Genetic Association Database - Last update: 2009-07-26
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ID	Association(Y/N)	Broad Phenotype	Disease Class	Disease Class Code	MeSH Disease Terms	Chromosom	Chr-Band	Gene	DNA Start	DNA End	P Value	Reference	Pubmed ID	Allele Author Discription	Allele Functional Effects	Polymophism Class	Gene Name	RefSeq	Population	MeSH Geolocation	Submitter	Locus Number	Unigene	 Narrow Phenotype	Mole. Phenotype	Journal	Title	rs Number	OMIM ID		GAD/CDC	Year	Conclusion	Study Info	Env. Factor	GI Gene A	GI Allele of Gene A	GI Gene B	GI Allele of Gene B	GI Gene C	GI Allele of Gene C	GI Association?	GI combine Env. Factor	GI relevant to Disease
125158		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Xiao, W. Y.  et al. 2005	16120569				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Yi chuan. 2005 Jul;27(4):518-22	[Polymorphism research on the distribution of four HLA alleles in five Chinese populations]		142800	11069	2	2005												
125159		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Zhou, L. X.  et al. 2005	16143070				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Xi bao yu fen zi mian yi xue za zhi. 2005 Sep;21(5):619-21	[Correlation between the polymorphism of HLA-A, -B, and -DRB1 alleles and susceptibility to leukemia.]		142800	11070	2	2005	 HLA-A01, -B38 and -DR15 alleles in Han population, Gansu province seem to contribute to the genetic susceptibility, while HLA-A11 and -DR03 alleles to the genetic resistance, to leukemia.											
125160	Y	alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-A	29963507	30085130		Xiao, F. L.  et al. 2005	16185849				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Journal of dermatological science. 2006 Feb;41(2):109-19	Association of HLA class I alleles with aloplecia areata in Chinese Hans.		142800	11071	2	2005	 This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.											
125155		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Kang, L.  et al. 2005	15793795				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):227-8	[Determination of HLA-A, -B allele polymorphism in the Luoba nationality living in Tibet Autonomous Region in China]		142800	11064	2	2005	 The distribution of HLA-A, -B allele polymorphism in the Luoba nationality is distinctive, but some of the gene distribution in the Luoba group is nearer to that in the Tibetan group. These are consistent with the results of ethnological, historical and sociological researches.	Cohort 92 healthy individuals of Luoba nationality Linzhi area, Tibet Autonomous Region 										
125157		melanoma	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Spinola, H.  et al. 2005	16101833				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2005 Sep;66(3):217-30	HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands.		142800	11068	2	2005												
125152		H. pylori infection	INFECTION	INF		6	6p21.3	HLA-A	29963507	30085130		Wu, G. G.  et al. 2004	15555263				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Zhonghua xue ye xue za zhi. 2004 Aug;25(8):473-7	[Study of HLA polymorphism in the 6965 Han bone marrow registry donors]		142800	11061	2	2004	 Large-scale DNA-based HLA genotyping used in bone marrow registry donors is highly accurate and reliable for estimating gene frequency and searching for new alleles. The discrepancy of HLA gene distribution between South and North China Han population showed the necessity of setting the more regions in South and North China to screen the bone marrow registry donors for bone marrow transplant.	Cohort 6,965 unrelated Han bone marrow donors, 4707 from South China origin and 2258 from north China 										
125153		H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Li, Z. H.  et al. 2004	15662734				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		China	CDC GDPinfo	3105	Hs.181244			Yi chuan. 2004 Mar;26(2):143-6	[Studies of the relationship of HLA polymorphisms and the infection of H. pylori in the population of Linqu in Shandong Province]		142800	11062	2	2004												
125150	N	lymphoma	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Maitland, K.  et al. 2004	15546341				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Dec;64(6):678-86	HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia.		142800	11059	2	2004	No consistent pattern was demonstrated for any HLA locus in relation to malaria endemicity.	Cohort 367 unrelated Melanesians Vanuatu and New Caledonia 										
125151		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	HLA-A	29963507	30085130		Grubic, Z.  et al. 2004	15554365				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Croatia	CDC GDPinfo	3105	Hs.181244			Reumatizam. 2004 ;51(1):11-May	[The distribution of HLA alleles class I and class II among patientes with psoriatic arthritis in Croatia]		142800	11060	2	2004	The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B* 13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients.	Cohort 58 psoriatic arthritis patients (28 male and 30 female) Croatia 										
125148		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Ma, H. J.  et al. 2004	15321756				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Di yi jun yi da xue xue bao. 2004 Aug;24(8):900-3	[HLA-Cw alleles polymorphism and haplotypes in Guangdong Han population]		142800	11057	2	2004	 HLA-Cw alleles have richer polymorphisms and their linkage disequilibrium with HLA-A, B, DRB1 exhibits geographic genetic characteristics.	Cohort 185 bone marrow donors 										
125149		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Farjadian, S.  et al. 2004	15496201				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		142800	11058	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
125144		myositis, sporadic inclusion-body	OTHER	OTH	Myositis, Inclusion Body	6	6p21.3	HLA-A	29963507	30085130		Lampe, J. B.  et al. 2003	14648147				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of neurology. 2003 Nov;250(11):1313-7	Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.		142800	11051	2	2003	After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal	Control German controls;Case:47 patients suffering from sporadic inclusion body:myositis										
125145		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases|Genetic Predisposition to Disease|Hyperplasia	6	6p21.3	HLA-A	29963507	30085130		Fernandez-Mestre, M. T.  et al. 2004	14700596				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Venezuela	CDC GDPinfo	3105	Hs.181244			Human immunology. 2004 Jan;65(1):54-9	HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis		142800	11052	2	2004	Thus, our results reflect the heterogeneity of our population and of the patients tested and suggest a limited influence of several HLA genes in this heterogenous disease or that these might be only markers of nearby non-HLA genes responsible for the susceptibility or resistance effect.	Case ethnically mixed Venezuelan patients with myasthenia gravis;Control:controls										
125141		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-A	29963507	30085130		Yu, M. L.  et al. 2003	12825172				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Taiwanese	Taiwan	CDC GDPinfo	3105	Hs.181244			The Journal of infectious diseases. 2003 Jul;188(1):62-5	Human leukocyte antigen class I and II alleles and response to interferon-alpha treatment, in Taiwanese patients with chronic hepatitis C virus infection.		142800	11048	2	2003	This suggests a role for a complex host-immunogenetics interplay in the response to IFN-alpha, in patients with chronic HCV infection.	Cohort 100 unrelated Taiwanese patients with chronic hepatitis C virus infection 		IFN	alpha	HLA	A11-DRB1*15 haplotype			Y		chronic hepatitis C virus
125142	N	HIV; cytomegalovirus retinitis	INFECTION	INF	Cytomegalovirus Retinitis|Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		De Lourdes Veronese Rodrigues, M.  et al. 2003	14510801				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Brazil	CDC GDPinfo	3105	Hs.181244			Acta ophthalmologica Scandinavica. 2003 Oct;81(5):514-6	Frequency of HLA class 1 and 2 alleles in Brazilian patients with AIDS and cytomegalovirus retinitis.		142800	11049	2	2003	 There was no association between HLA molecules/alleles and CMV-R in Brazilian patients with AIDS. However, the results support the role of the HLA system in the susceptibility to developing AIDS.	Case Brazilian patients with AIDS and cytomegalovirus:retinitis;Control:controls										
125138	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Philippines	CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142800	11044	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
125139	Y	nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Hildesheim, A.  et al. 2002	12464650				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese	Taiwan	CDC GDPinfo	3105	Hs.181244			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		142800	11045	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
125135		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-A	29963507	30085130		Miyagawa, S.  et al. 2002	11841366				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Japanese		CDC GDPinfo	3105	Hs.181244			The British journal of dermatology. 2002 Jan;146(1):52-8	Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.		142800	11039	2	2002	 These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV.	Control normal controls subjects;Case:51 Japanese patients with pemphigus										
125137	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Kitawaki, J.  et al. 2002	12392856				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Human immunology. 2002 Nov;63(11):1033-8	Association of HLA class I and class II alleles with susceptibility to endometriosis		142800	11043	2	2002	Therefore, our results indicated that the HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype was associated with endometriosis susceptibility. Our findings may provide an important clue to elucidating the pathogenesis of endometriosis.	Case:123 Japanese patients with endometriosis;Control:165 healthy women										
125132		HIV infection	INFECTION	INF	HIV Infections|Disease Progression|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Lockett, S. F.  et al. 2001	11464148				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of acquired immune deficiency syndromes (1999). 2001 Jul;27(3):277-80	Mismatched Human Leukocyte Antigen Alleles Protect Against Heterosexual HIV Transmission		142800	11035	2	2001	Analysis of the frequencies of specific alleles at the A, B, and DR loci revealed a significantly higher frequency of HLA DR5 among exposed uninfected individuals, relative to population controls.	Cohort 80 individuals at risk for heterosexual HIV infection 										
125133		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-A	29963507	30085130		Muro, M.  et al. 2001	11543893				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Spanish		CDC GDPinfo	3105	Hs.181244			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		142800	11037	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
125129		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Saito, S.  et al. 2000	11169242				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Japanese		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		142800	11031	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
125130		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-A	29963507	30085130		Bera, O.  et al. 2001	11285127				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2001 Mar;57(3):200-7	HLA class I and class II allele and haplotype diversity in Martinicans.		142800	11032	2	2001	In the whole, using PCR-based genotyping methods for HLA class I and class II loci, this study allows a preliminary description of HLA allele distribution in this Caribbean island and gives new elements which may be helpful in the anthropologic field as well as in HLA and disease association studies.	Cohort 100 Martinicans (admixture between African and French Caucasians) Martinicans 										
125127		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Cheng, L. H.  et al. 2005	15772003				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Di yi jun yi da xue xue bao. 2005 Mar;25(3):321-4	[Difference in HLA-A*02 allele distribution between Han populations in south and north China]		142800	11029	2	2005	 HLA-A*02 alleles possess high heterogeneity and genetic diversity in Chinese Han population with significantly different distributions in the two populations. HLA-A**020101, A*0203 and A*0207 may serve as the genetic markers for dividing Chinese Han individuals into southerners and northerners in anthropological studies.	Cohort 208/109 randomly selected individuals from south China (n=208) and from north China (n=109) China 										
125128		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-A	29963507	30085130		de Pablo, R.  et al. 2000	11169240				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	South American		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2000 Dec;56(6):507-14	HLA class I and class II allele distribution in the Peruvian population.		142800	11030	2	2000	Our data are consistent with the Mestizo character of this population. In terms of genetic distance Peruvians are closest to Bolivians, which is in agreement with the geographical location and the cultural and anthropological background of the two human groups. Several HLA-B alleles originally described in genetically isolated Amerindian tribes are also present in the sample studied here. This fact and the reported finding of these alleles in several Amerindian groups suggests that they were present in the first wave of humans that populated South America (Paleoindians) before they split to give rise to the different South American tribes.	Cohort Peruvian population sample Peru 										
125124		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperinsulinism|Insulin Resistance|Obesity	2	2p13	HK2	74913289	74973989		Vidal-Puig A1995	7883122				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4			Y Wang	3099	Hs.406266			Diabetes. 1995 Mar;44(3):340-6	Analysis of the hexokinase II gene in subjects with insulin resistance and NIDDM and detection of a Gln142-->His substitution.		601125	3116	1	1995												
125125	N	Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Beghe B 2004	14674935				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244	toluene diisocyanate-induced asthma		Allergy. 2004 Jan;59(1):61-4	Lack of association of HLA class I genes and TNF alpha-308 polymorphism in toluene diisocyanate-induced asthma.		142800	3117	1	2004	 These results suggest that HLA class I antigens and TNF-alpha A-308G are not associated with susceptibility or resistance to the development of TDI-induced asthma.											
125126		renal cell carcinoma	CANCER	CAN	Adenocarcinoma, Clear Cell|Carcinoma, Renal Cell|Kidney Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Maleno I 2004	14991587			haplotype	Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			International journal of cancer. Journal international du cancer. 2004 Apr;109(4):636-8	Low frequency of HLA haplotype loss associated with loss of heterozygocity in chromosome region 6p21 in clear renal cell carcinomas.		142800	3118	1	2004												
125120		diabetes, type 2	METABOLIC	MET	Precancerous Conditions|Diabetes Mellitus, Type 2	2	2p13	HK2	74913289	74973989		Echwald SM1995	7883123				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4			Y Wang	3099	Hs.406266			Diabetes. 1995 Mar;44(3):347-53	Identification of four amino acid substitutions in hexokinase II and studies of relationships to NIDDM, glucose effectiveness, and insulin sensitivity.		601125	3112	1	1995												
125121		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p13	HK2	74913289	74973989		Laakso M1995	7883120				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4	Finnish	Finland	Y Wang	3099	Hs.406266			Diabetes. 1995 Mar;44(3):330-4	Amino acid substitutions in hexokinase II among patients with NIDDM.		601125	3113	1	1995	We conclude that  mutations of the HKII gene are not a major etiological factor for NIDDM in the Finnish population.											
125122		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p13	HK2	74913289	74973989		Taylor RW 1996	8721778				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4		United States|Europe|Great Britain	Y Wang	3099	Hs.406266			Diabetologia. 1996 Mar;39(3):322-8	Variant sequences of the Hexokinase II gene in familial NIDDM.		601125	3114	1	1996												
125123		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p13	HK2	74913289	74973989		Ardehali H 1996	8834247				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4	Pima Indians		Y Wang	3099	Hs.406266			Human genetics. 1996 Apr;97(4):482-5	A novel (TA)n polymorphism in the hexokinase II gene: application to noninsulin-dependent diabetes mellitus in the Pima Indians.		601125	3115	1	1996												
125116	Y	esophageal cancer	CANCER	CAN		14	14q21-q24	HIF1A	61231991	61284729		Suzuki, K.  et al. 2003	12944107				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Medical hypotheses. 2003 Sep;61(3):385-9	Genetic variation in hypoxia-inducible factor 1alpha and its possible association with high altitude adaptation in Sherpas.		603348	17154	2	2003	A possible genetic variation in the HIF-1alpha gene might function in adaptation to living at high altitude. Because the activity of HIF-1 is regulated by multiple steps including the transcriptional level, the effect of the polymorphism in intron 13 on the cellular hypoxic responses remains to be elucidated.	Cohort Sherpas and Japanese native lowlanders 										
125118	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	2	2p13	HK2	74913289	74973989	n	Laakso M et al. 1995	7489847				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4		Finland	KGB	3099	Hs.406266			Diabetologia. 1995 May;38(5):617-22	Polymorphisms of the human hexokinase II gene: lack of association with NIDDM and insulin resistance.		601125	3110	1	1995												
125119		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	2	2p13	HK2	74913289	74973989		Yagi T 1996	8911786				Hexokinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000189.4	Japanese	Japan	Y Wang	3099	Hs.406266			Diabetic medicine. 1996 Oct;13(10):902-7	A population association study of four candidate genes (hexokinase II, glucagon-like peptide-1 receptor, fatty acid binding protein-2, and apolipoprotein C-II) with type 2 diabetes and impaired glucose tolerance in Japanese subjects.		601125	3111	1	1996												
125113		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Susceptibility	14	14q21-q24	HIF1A	61231991	61284729		Chau, C. H.  et al. 2005	16205110				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Cancer biology & therapy. 2005 Nov;4(11):1222-5	Polymorphism in the Hypoxia-Inducible Factor 1alpha Gene May Confer Susceptibility to Androgen-Independent Prostate Cancer.		603348	11027	2	2005												
125114		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	14	14q21-q24	HIF1A	61231991	61284729		Ling, T. S.  et al. 2005	16246222				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Chinese journal of digestive diseases. 2005 ;6(4):155-8	Common single nucleotide polymorphism of hypoxia-inducible factor-1alpha and its impact on the clinicopathological features of esophageal squamous cell carcinoma.		603348	11028	2	2005	 Although there is no significant difference of genotype distribution between ESCC patients and healthy controls, genotype C/T is associated with larger tumor and higher rate of lymph node metastasis.											
125115	Y	oxygen consumption	OTHER	OTH		14	14q21-q24	HIF1A	61231991	61284729		Prior, S. J.  et al. 2003	12865501				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Physiological genomics. 2003 Sep;15(1):20-6	Sequence variation in hypoxia-inducible factor 1alpha (HIF1A): association with maximal oxygenconsumption.		603348	17153	2	2003	We conclude that  HIF1A sequence variation is associated with VO2 max before and after aerobic exercise training in older humans.	Cohort 233 Caucasian and African-American subjects, with 155 of those subjects used to study VO2 max in relation to identified variants 										
125110	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	14	14q21-q24	HIF1A	61231991	61284729		Ollerenshaw, M.  et al. 2004	15350301				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Cancer genetics and cytogenetics. 2004 Sep;153(2):122-6	Polymorphisms in the hypoxia inducible factor-1alpha gene (HIF1A) are associated with the renal cell carcinoma phenotype		603348	11024	2	2004	These findings show that polymorphisms of the HIF1A gene may confer susceptibility to RCC.	Control normal healthy controls;Case:160 nontumor DNA samples from patients with renal cell:carcinoma										
125111	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Neoplasm Invasiveness	14	14q21-q24	HIF1A	61231991	61284729		Kuwai, T.  et al. 2004	15492789				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Oncology reports. 2004 Nov;12(5):1033-7	Single nucleotide polymorphism in the hypoxia-inducible factor-1alpha gene in colorectal carcinoma.		603348	11025	2	2004	These results suggest that the C1772T polymorphism in HIF-1alpha is not involved in progression or metastasis of colorectal carcinoma.	Case colorectal cancer patients;Control healthy control subjects										
125112		heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia	14	14q21-q24	HIF1A	61231991	61284729		Resar, J. R.  et al. 2005	16100168				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Chest. 2005 Aug;128(2):787-91	Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease.		603348	11026	2	2005	 These data suggest that variations in HIF-1alpha genotype may influence development of coronary artery collaterals in patients with significant coronary artery disease.											
125107	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23.33	HHEX	94439660	94445388		Prince, J. A.  et al. 2003	14517947				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3			CDC GDPinfo	3087	Hs.118651			Human mutation. 2003 Nov;22(5):363-71	Genetic variation in a haplotype block spanning IDE influences Alzheimer disease.		604420	17630	2	2003	These results provide substantial evidence that genetic variation within or extremely close to IDE impacts both disease risk and traits related to the severity of AD.	Case early- and late-onset AD cases from several independent sets of case-control materials;Control controls from several independent sets of case-control materials										
125108	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23.33	HHEX	94439660	94445388		Ertekin-Taner, N.  et al. 2004	15024728				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3			CDC GDPinfo	3087	Hs.118651			Human mutation. 2004 Apr;23(4):334-42	Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease.		604420	17631	2	2004	These results provide strong evidence for pathogenic variant(s) in the 276-kb region harboring IDE that influence intermediate AD phenotypes and risk for AD.	Control:108 age-matched controls;Case:109 late-onset Alzheimer's disease cases;Case:188 late-onset Alzheimer's disease cases;Control:188 age-matched controls										
125109	N	erythrocytosis, idiopathic	HEMATOLOGICAL	HEM	Polycythemia	14	14q21-q24	HIF1A	61231991	61284729		Percy, M. J.  et al. 2003	14521712				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDPinfo	3091	Hs.509554			Molecular cancer [electronic resource]. 2003 Sep;2:31	A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation		603348	11023	2	2003	 The Pro582Ser change represents a common polymorphism of HIF-1alpha that does not impair HIF-1alpha prolyl hydroxylation. Although the Pro582Ser polymorphism is located in the ODD domain of HIF-1alpha it does not diminish the association of HIF-1alpha with VHL. Thus, it is unlikely that this polymorphism accounts for the erythrocytosis in the group of IE patients studied.	Case patients with idiopathic erythrocytosis										
125104	Y	blood pressure, arterial; carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension|Disease Progression|Genetic Predisposition to Disease	7	7q21.1	HGF	81169379	81237388		Takiuchi, S.  et al. 2004	15064106				Hepatocyte growth factor (hepapoietin A; scatter factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000601.4	Japanese	Japan	CDC GDPinfo	3082	Hs.396530			Atherosclerosis. 2004 Apr;173(2):301-7	Identification of 21 single nucleotide polymorphisms in human hepatocyte growth factor gene and association with blood pressure and carotid atherosclerosis in the Japanese population.		142409	11021	2	2004	This study provides the first evidence that HGF may be a candidate susceptibility loci that affects the progression of atherosclerosis in Japanese subjects.	Cohort 2,412 Japanese subjects from the general population Suita city, Japan 										
125105	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity|Genetic Predisposition to Disease	7	7q21.1	HGF	81169379	81237388		Motone, M.  et al. 2004	15127882				Hepatocyte growth factor (hepapoietin A; scatter factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000601.4			CDC GDPinfo	3082	Hs.396530			Hypertension research. 2004 Apr;27(4):247-51	Association between hepatocyte growth factor gene polymorphism and essential hypertension.		142409	11022	2	2004	A sigYificaYt associatioY with hyperteYsioY was observed iY leaY or female subjects but Yot iY obese or male subjects. IY coYclusioY, our data suggested that C/A polymorphism iY iYtroY 13 of the HGF geYe is associated with susceptibility to esseYtial hyperteYsioY iY leaY or female subjects.											
125106		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	7	7q21.1	HGF	81169379	81237388		Watanabe, I.  et al. 2003	12732844				Hepatocyte growth factor (hepapoietin A; scatter factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000601.4	Japanese	Japan	CDC GDPinfo	3082	Hs.396530			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		142409	28517	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
125101		hemochromatosis	METABOLIC	MET	Hemochromatosis	1	1q21.1	HFE2	144124634	144128902		Le Gac, G.  et al. 2004	15254010				Hemochromatosis type 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213653.2		France	CDC GDPinfo	148738	Hs.632436			Human molecular genetics. 2004 Sep;13(17):1913-8	The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.		608374	17152	2	2004	Our new data reveals that mutations in the HJV gene could be associated with a similar effect. Taken together, these results emphasize that a search for modifier genes could enable us to more precisely distinguish those C282Y homozygous patients with a higher risk to develop a severe iron overload and, consequently, clinical complications.	Cohort 310 HFE C282Y homozygous patients 		HFE	C282Y/C282Y	HJV				Y		hereditary haemochromatosis
125102		diabetes, type 2; liver disease, chronic; hemochromatosis	METABOLIC	MET		1	1q21.1	HFE2	144124634	144128902		Barton, J. C.  et al. 2004	15610558				Hemochromatosis type 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213653.2	African Americans		CDC GDPinfo	148738	Hs.632436			BMC medical genetics [electronic resource]. 2004 Dec;5:29	Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population		608374	21698	2	2004	 HJV I222N and G320V are probably uncommon causes or modifiers of primary iron overload in adult whites and African Americans in Alabama. Double heterozygosity for HJV I222N and HFE C282Y may not promote increased iron absorption.	Cohort 241/124 Caucasian (n=241) and African American (n=124) individuals from the general population Alabama 										
125103		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Neoplasm Invasiveness	7	7q21.1	HGF	81169379	81237388		Hall CL 2004	15042617				Hepatocyte growth factor (hepapoietin A; scatter factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000601.4			KGB	3082	Hs.396530			The Prostate. 2004 May;59(2):167-76	Enhanced invasion of hormone refractory prostate cancer cells through hepatocyte growth factor (HGF) induction of urokinase-type plasminogen activator (u-PA).		142409	3107	1	2004	 These results demonstrate the biological significance of u-PA up-regulation in response to HGF in highly metastatic hormone refractory CaP cells.											
125098		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	6	6p21.3	HFE	26195487	26205036		Hefler, L.  et al. 2004	14706682				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		235200	27734	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
125099		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		De Jong, M. M.  et al. 2002	12433710				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		235200	28055	2	2002	Review article											
125100	Y	hemochromatosis	METABOLIC	MET	Hemochromatosis	1	1q21.1	HFE2	144124634	144128902		Pissia, M.  et al. 2004	15194541				Hemochromatosis type 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213653.2			CDC GDPinfo	148738	Hs.632436			Haematologica. 2004 Jun;89(6):742-3	Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece.		608374	17151	2	2004	No conclusion in abstract	Cohort individuals from the Greek population 										
125096		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Barton, A.  et al. 2002	11981324				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		235200	27454	2	2002	Review article											
125097		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	6	6p21.3	HFE	26195487	26205036		French, J. K.  et al. 2003	12514663				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		235200	27455	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
125093		cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Disease Progression	6	6p21.3	HFE	26195487	26205036		Stickel, F.  et al. 2005	16157826				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Archives of internal medicine. 2005 Sep;165(16):1835-40	Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis.		235200	21696	2	2005	 Cirrhosis is more likely to develop in C282Y homozygotes with the GSTP1 Val/Val genotype than in those with non-Val/Val genotypes, which in part explains the variable phenotypic expression of HHC and highlights the central role of oxidative stress in its pathogenesis.											
125094	Y	hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Jacolot, S.  et al. 2003	14670915				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Blood. 2004 Apr;103(7):2835-40	HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.		235200	21697	2	2003	Based on a digenic model of inheritance, these data suggest that the association of heterozygous mutations in the HFE and HAMP genes could lead, at least in some cases, to an adult-onset form of primary iron overload.	Cohort 392 C282Y homozygous hemochromatosis patients 										
125095		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Festa, F.  et al. 2005	15914210				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		235200	24582	2	2005												
125091		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	6	6p21.3	HFE	26195487	26205036		Robson, K. J.  et al. 2004	15060098				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	European		CDC GDPinfo	3077	Hs.233325			Journal of medical genetics. 2004 Apr;41(4):261-5	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.		235200	21694	2	2004	 We suggest that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of APOE4. Since 4% of Northern Europeans carry the two iron-related variants and since iron overload is a treatable condition, these results merit replication.	Case:191/69 cases with definite or probable AD (n=191) and with mild cognitive impairment (n=69) from the OPTIMA:cohort;Control:269 healthy elderly controls										
125092		iron levels	METABOLIC	MET	Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Zaahl, M. G.  et al. 2004	15338274				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Human genetics. 2004 Oct;115(5):409-17	Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload		235200	21695	2	2004	This study confirms the genetic heterogeneity of haemochromatosis and highlights the significance of CYBRD1 mutations in relation to iron overload.	Case:67 unrelated patients presenting with primary iron:overload;Control:70 population-matched controls										
125087		leukemia; hemochromatosis; iron metabolism	CANCER	CAN	Leukemia|Lymphoma|Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Dorak, M. T.  et al. 2002	12002748				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Leukemia & lymphoma. 2002 Mar;43(3):467-77	Hemochromatosis gene in leukemia and lymphoma.		235200	19817	2	2002	Review article											
125089	N	colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		McGlynn, K. A.  et al. 2005	15668490				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):158-63	Hemochromatosis gene mutations and distal adenomatous colorectal polyps.		235200	19819	2	2005	There was no relationship between any HFE genotype or haplotype and advanced adenoma. Stratification of HFE genotype by TFRC genotype did not change the results. In addition, there was no relationship between dietary iron intake and risk of adenoma or between HFE genotype and risk of adenoma, stratified by iron intake. These results do not support a relationship between HFE heterozygosity and risk of advanced distal adenoma.	Case:679 persons with the advanced distal adenoma from the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial;Control:697:controls										
125085	Y	cirrhosis; hepatocellular carcinoma	UNKNOWN	UNK	Carcinoma, Hepatocellular|Liver Neoplasms|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Beckman, L. E.  et al. 2000	11096344				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Oncology. 2000 Nov;59(4):317-22	Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma.		235200	19815	2	2000	Individuals carrying the HFE282Tyr allele (homo- and heterozygotes) in combination with homozygosity for the TFR Ser allele showed an increased risk for HCC (OR = 3.5; 95% confidence interval, CI = 1.3-9.3), which was further increased in HFE Tyr homozygotes and compound (Tyr/Asp) heterozygotes in combination with TFR 142Ser homozygosity (OR = 17.2; 95% CI = 1.8-168.9). The presence of liver cirrhosis could only be assessed in part of the patient material. In patients with verified liver cirrhosis the risk figures were substantially	Cohort 54 patients with hepatocellular carcinoma Sweden 										
125086	Y	porphyria cutanea tarda	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Lamoril, J.  et al. 2002	11929045				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		France	CDC GDPinfo	3077	Hs.233325			Cellular and molecular biology (Noisy-le-Grand, France). 2002 Feb;48(1):33-41	Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).		235200	19816	2	2002	Analysis of HFE genotypes indicated that C282Y (but not H63D nor S65C) is a susceptibility factor for the development of sPCT in West European continental patients. However, analysis of TFRC1 genotypes suggest that sPCT should be considered as a multifactorial disorder in which other intracellular iron metabolism genes could be involved.											
125083		iron levels	METABOLIC	MET	Leukemia, Lymphocytic, Acute|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Veneri, D.  et al. 2005	15863206				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Leukemia research. 2005 Jun;29(6):661-4	Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.		235200	19813	2	2005	Our study does not support the evidence of an association between hemochromatosis gene mutations and iron overload in AL patients.	Cohort 82 adult patients with acute leukemia 										
125084		breast cancer	CANCER	CAN	Breast Neoplasms|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Abraham, B. K.  et al. 2005	15894659				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	German	Germany	CDC GDPinfo	3077	Hs.233325			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1102-7	Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.		235200	19814	2	2005	Our data suggest that variants of the hemochromatosis-transferrin receptor system have no direct effect on the incidence of breast cancer in Germany. Possible effects on tumor progression and prognosis remain elusive.	Case:688 breast cancer patients:Germany;Control:724 population-based and age-matched controls										
125081		iron levels	METABOLIC	MET	Iron Overload	6	6p21.3	HFE	26195487	26205036		De Gobbi, M.  et al. 2003	12681966				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Italian	Italy	CDC GDPinfo	3077	Hs.233325			Haematologica. 2003 Apr;88(4):396-401	Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.		235200	19811	2	2003	 Our results confirm previous findings on C282Y and H63D mutations in Italy, show that the C282Y allele frequency is enriched in samples selected for altered iron parameters, and that a few rare genotypes are present in Northern Italy. None of the known TFR2 mutations was identified in this series confirming the preliminary indication of their rare occurrence. Subjects with hemochromatosis-associated genotypes show a persistently higher mean transferrin saturation than do those with wild type genotypes.	Cohort 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors 										
125082		rheumatoid arthritis	IMMUNE	IMM	Chondrocalcinosis|Rheumatic Diseases|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Rovetta, G.  et al. 2004	15785438				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Italy	CDC GDPinfo	3077	Hs.233325			Minerva medica. 2004 Dec;95(6):535-9	Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients.		235200	19812	2	2004	 The conclusion is drawn that this mutation may be correlated to various rheumatic diseases.	Cohort 118 consecutive patients (28 males, 90 females, mean age 58.5+/-13.44) Liguria 										
125078		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036			16324464				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Med Clin (Barc). 2005 Nov;125(19):721-6	[Hereditary hemochromatosis: phenotypic study in aSpanish population.]		235200	17150	2	2005	 HH patients have a noticeable phenotypic variability, and for that reason clinical symptoms are only orientative for the diagnosis. The relationship between HH and glucose metabolism should be investigated further. Iron parameters can be influenced by age, sex, HFE genotype, blood donation, alcohol intake and hepatitis C virus infection.											
125080	N	iron levels	METABOLIC	MET	alpha-Thalassemia|Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Chan, V.  et al. 2003	12667993				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		China	CDC GDPinfo	3077	Hs.233325			Blood cells, molecules & diseases. 2003 Jan-Feb;30(1):107-11	Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?		235200	19810	2	2003	Since only eight out of 45 iron-overloaded HbH patients carry a defect in the TFR2 or HFE gene in the heterozygote state and their iron loading status was comparable to the matched controls without such defects, it would appear that the accumulation of excess iron in HbH disease is more likely a result of increase dietary absorption secondary to ineffective erythropoiesis.	Control matched controls;Case:45 Chinese HbH disease patients										
125075	Y	iron levels; soluble transferrin receptor; transferrin	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Berez, V.  et al. 2005	15698609				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Catalan	Spain	CDC GDPinfo	3077	Hs.233325			Clinica chimica acta; international journal of clinical chemistry. 2005 Mar;353(2-Jan):205-8	Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.		235200	17147	2	2005	 The H63D mutation of the HFE gene has a moderate but significant influence on sTfR concentration in the general population, the presence of one or two mutated alleles being associated with an average of 0.27 mg/L less sTfR than nonmutated homozygotes.	Cohort 348 subjects 										
125076		hemochromatosis; dermatomyositis; juvenile arthritis; polymyositis	METABOLIC	MET	Rheumatic Diseases|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Putova, I.  et al. 2005	16047841				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Cas Lek Cesk. 2005 ;144(6):391-7; discussion 397-8	[Mutations in the HFE gene in patients with rheumatic diseases]		235200	17148	2	2005	 Results of this study show that heterozygosity for C282Y mutation may be a risk factor for juvenile idiopathic arthritis but not for polymyositis and dermatomyositis.											
125073	Y	hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Mura, C.  et al. 2005	15654232				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Genetics in medicine. 2005 Jan;7(1):68-73	A 6-year survey of HFE gene test for hemochromatosis diagnosis		235200	17145	2	2005	 The HFE gene test confirmed a genetic defect that may lead to iron loading in individuals when iron parameter values, especially for the C282Y/C282Y, were still low as well as for genotypes usually associated with low expressivity and penetrance (C282Y/H63D, H63D/H63D). This gene-test should allow a biochemical follow-up of patients carrying a disease-related genotype.	Cohort 3,523 individuals 										
125074		liver function; iron levels; ferritin; transferrin saturation	OTHER	OTH	Liver Diseases|Iron Overload	6	6p21.3	HFE	26195487	26205036		Lorenz, M.  et al. 2005	15673318				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Kidney international. 2005 Feb;67(2):691-7	Iron overload in kidney transplants: prospectiveanalysis of biochemical and genetic markers.		235200	17146	2	2005	 Our study demonstrates that iron overload is frequently present in renal transplant patients and shows a continuous decrease over time. This decrease is possibly impaired by the HFE C282Y and HFE H63D mutations. Furthermore, mutations in HFE may influence liver function as reflected by increased alanine-aminotransferase concentrations.	Cohort 438 renal transplant patients 										
125071		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Pardo, A.  et al. 2004	15388046				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Spanish	Spain	CDC GDPinfo	3077	Hs.233325			Gastroenterol Hepatol. 2004 Oct;27(8):437-43	[Genotype and phenotypic expression of hereditary hemochromatosis in Spain]		235200	17143	2	2004	 The genotypic and phenotypic expression of HH in Spain is very similar to that reported in Northern Europe. Thus, the genetic heterogeneity described in some Southern European regions cannot be considered a common feature to all countries of the Mediterranean Basin.	Cohort a large series of unrelated Spanish patients with hereditary hemochromatosis from different geographical origins Spain 										
125072		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Mouland, G.  et al. 2005	15643457				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Norway	CDC GDPinfo	3077	Hs.233325			Tidsskrift for den Norske laegeforening. 2005 Jan;125(1):20-2	[Elevated serum ferritin and hemochromatosis in general practice]		235200	17144	2	2005	In our opinion, persons with elevated serum ferritin should be offered a control of serum ferritin and transferrin saturation. If both these tests show elevated levels, a gene test for haemochromatosis should be performed. Persons who are homozygote for the haemochromatosis mutation should have a follow up with testing of serum ferritin with some years' intervals in order to secure that venesection is started in due time.	Cohort 379 of 519 persons aged 20-70 having tested positively for elevated serum ferritin over the five-year period 1996-2000 										
125069	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HFE	26195487	26205036		Ladero, J. M.  et al. 2003	14972004				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Rev Esp Enferm Dig. 2003 Dec;95(12):829-36	[HFE gene mutations, hepatic iron content, and histological severity in hepatitis C virus-induced chronic hepatitis]		235200	17141	2	2003	 our results suggest that the C282Y mutation, but not the H63D mutation, of the HFE gene is frequently associated with stainable iron in the liver in HCV-related chronic hepatitis. The HFE genotype is not related to the histological severity of the disease.	Control:181 healthy individuals from the same ethnic and geographical origin;Case:72 Caucasian Spaniard patients diagnosed with HCV-chronic infection, naive for antiviral therapy, and undergoing liver biopsy										
125070		chronic fatigue	OTHER	OTH	Hemochromatosis|Chronic Disease|Asthenia|Fatigue	6	6p21.3	HFE	26195487	26205036		Durand, D. V.  et al. 2004	15363617				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Rev Med Interne. 2004 Sep;25(9):623-8	[Haemochromatosis screening in 120 patients complaining with persistant fatigue]		235200	17142	2	2004	 None of these 120 patients consulting for unexplained chronic fatigue was found with hereditary haemochromatosis. Therefore observed prevalence is 0, with upper limit of 95% confidence interval at 2.5%. But the high prevalence (38%) of serum ferritin >or= 300 microg/l must be emphasized, corresponding usually to dysmetabolic hyperferritinemia.	Cohort 120 chronic fatigue patients, 19-86 years old, including 62 males and 58 females 										
125067		retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Hemochromatosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Peterlin, B.  et al. 2003	14618419				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Caucasian		CDC GDPinfo	3077	Hs.233325			Journal of human genetics. 2003 ;48(12):646-9	A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes.		235200	17138	2	2003	These data suggest that heterozygosity for C282Y might be a novel risk factor for PDR in Caucasians with type 2 diabetes.	Control:133 diabetic subjects without nephropathy;Case:90 subjects with type 2 diabetes with proliferative diabetic retinopathy										
125068		liver disease, chronic	METABOLIC	MET	Liver Diseases|Hemochromatosis|Chronic Disease	6	6p21.3	HFE	26195487	26205036		Thakur, V.  et al. 2004	14675248				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Indian	India	CDC GDPinfo	3077	Hs.233325			Journal of gastroenterology and hepatology. 2004 Jan;19(1):86-90	Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India.		235200	17140	2	2004	 Almost 10% of nonalcoholic CLD patients in India have iron overload, but this is independent of C282Y mutation of the HFE gene. Large population based studies are recommended to investigate the prevalence of this rare disorder in India.	Control:134 age matched healthy controls;Case:249 consecutive biopsy proven chronic liver disease:(HBV = 112, HCV = 72, cryptogenic = 65) patients										
125065	Y	iron levels	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Njajou, O. T.  et al. 2003	12673276				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			European journal of human genetics. 2003 Mar;11(3):225-31	A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism.		235200	17136	2	2003	Our study shows that the HFE C282Y and H63D are determinants of iron parameters in the elderly and will be effective in detecting individuals at high risk of hemochromatosis. However, when screening based on these two mutations, some individuals with subclinical hemochromatosis will be missed.	Cohort 342 individuals selected from a random group of 2095 subjects 										
125066	N	iron levels	METABOLIC	MET	Hepatitis|Metabolic Diseases|Iron Overload|Syndrome	6	6p21.3	HFE	26195487	26205036		Venat, L.  et al. 2003	12712916				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Presse Med. 2003 Mar;32(9):400-5	[Dysmetabolic hepatosiderosis, characteristics in 51 patients]		235200	17137	2	2003	 Dysmetabolic hepatosiderosis must be know by hospital practitioners because of their prevalence in cases of hyperferritinemia and their therapeutic incidence.	Cohort 51 patients hospitalised and/or seen in consultation, non-alcoholic, presenting with hyperferritinemia associated with a polymetabolic syndrome and/or hepatic steatosis 										
125063		hemochromatosis; dermatomyositis; juvenile arthritis; polymyositis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Larsen, L. E.  et al. 2002	12380399				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Danish	Denmark	CDC GDPinfo	3077	Hs.233325			Ugeskrift for laeger. 2002 Sep;164(39):4545-7	[Prevalence of hemochromatosis-associated mutations in the hemochromatosis gene in the Danish population]		235200	17134	2	2002	 A prevalence of 0.25% homozygotes and > 10% heterozygotes for C282Y makes hereditary haemochromatosis the potentially most common inherited disorder in Denmark. However, in new studies from USA of the association between genotype and disease in unselected populations the penetrance is very low. On this background, population screening for the presence of these mutations is not advisable.	Cohort 9174 individuals from a random sample of the Danish general population (The Copenhagen City Heart Study) 										
125064	N	diabetes, type 2	METABOLIC	MET	Hemochromatosis|Diabetes Mellitus, Type 2	6	6p21.3	HFE	26195487	26205036		Malecki, M. T.  et al. 2003	12601293				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Polish	Poland	CDC GDPinfo	3077	Hs.233325			Medical science monitor. 2003 Feb;9(2):BR91-5	A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population.		235200	17135	2	2003	 The frequency of HH-associated mutations in this population from south-eastern Poland is similar to other Caucasians. We found no evidence for the association of the C282Y mutation with T2DM. The results do suggest, however, that the H63D mutation may play a role in the pathogenesis of late onset T2DM and in males in this Polish population.	Control:169:controls;Case:222 Polish type 2 diabetics:Poland										
125061		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Bassett, M.  et al. 2001	11960577				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Australian	Australia	CDC GDPinfo	3077	Hs.233325			Genetic testing. 2001 ;5(4):317-20	Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents.		235200	17132	2	2001	These data suggest that an Australian neonatal genetic screening program for hemochromatosis is likely to be accepted by this and similar groups of subjects, but there should be an opportunity for parents who object to screening to opt out of any such program.	Cohort 135 consecutive, pregnant women and their partners attending a hospital antenatal clinic in the Australian Capital Territory Australia 										
125062	N	iron overload	METABOLIC	MET	Iron Overload|Alcoholism	6	6p21.3	HFE	26195487	26205036		Campos Franco, J.  et al. 2002	12361551				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Rev Clin Esp. 2002 Oct;202(10):534-9	[Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload]		235200	17133	2	2002	 In our setting, iron overload among alcoholic individuals seems to be independent of the presence of mutations C282Y, H63D and S65C in the HFE gene.	Cohort 32 active alcoholic individuals (29 males and 3 females, age range 30-67 years) with data of iron overload (increased serum ferritin with or without saturation of increased transferrin) 										
125059		ferritin; transferrin saturation	UNKNOWN	UNK	Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Gochee, P. A.  et al. 2002	11874997				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Gastroenterology. 2002 Mar;122(3):646-51	A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.		235200	17130	2	2002	 Presence of the H63D mutation results in a significant increase in serum transferrin saturation but does not result in significant iron overload. In the absence of the C282Y mutation, the H63D mutation is not clinically significant.	Cohort 2531 unrelated Caucasian subjects who did not possess the C282Y mutation 										
125060		retinopathy, diabetic	VISION	VIS	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Steiner, M.  et al. 2002	11875012				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Vietnamese	Vietnam|Germany	CDC GDPinfo	3077	Hs.233325			Gastroenterology. 2002 Mar;122(3):789-95	A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin.		235200	17131	2	2002	We describe for the first time a homozygous HFE splice site mutation (IVS5 G/A) in a non-Caucasian patient with hereditary hemochromatosis. Although the absence of this novel HFE gene mutation in Caucasian subjects suggests that the mutation is exclusive to this family, mutation screening in populations of different ethnic background is recommended to precisely define its contribution to hereditary hemochromatosis in non-Caucasian patients.	Cohort 220 Caucasian individuals 										
125057	N	diabetes, type 2; liver disease, chronic; hemochromatosis	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Campo, S.  et al. 2001	11454185				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Italian	Mediterranean Region	CDC GDPinfo	3077	Hs.233325			Liver. 2001 Aug;21(4):233-6	Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin		235200	17128	2	2001	 In Mediterranean populations from Southern Italy the C282Y mutation occurs sporadically and HFE polymorphisms seem to have little diagnostic relevance.	Case:100 chronic liver disease patients Sicily and Calabria;Case:100 type 2 diabetes patients Sicily and Calabria;Control:100 healthy controls Sicily and Calabria;Case:23 hepatocellular carcinoma patients Sicily and Calabria;Case:4 hereditary hemochromatosis patients Sicily and Calabria										
125058	N	hemochromatosis	METABOLIC	MET	Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Lee, P. L.  et al. 2001	11783942				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Blood cells, molecules & diseases. 2001 Sep-Oct;27(5):783-802	A study of genes that may modulate the expression of hereditary hemochromatosis: transferrinreceptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.		235200	17129	2	2001	no association between numerous polymorphisms and iron accumulation could be documented	Case a group of white, Asian, and African-American iron overload individuals;Control a group of white, Asian, and African-American normal individuals										
125054		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HFE	26195487	26205036		Shao, W.  et al. 2004	15304010				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		235200	11056	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
125055	Y	cirrhosis	OTHER	OTH	Liver Cirrhosis|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Osterreicher, C. H.  et al. 2005	15885363				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Journal of hepatology. 2005 Jun;42(6):914-9	Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis.		235200	11309	2	2005	 MPO genotype GG is associated with cirrhosis in patients with hereditary hemochromatosis.	Cohort 158 C282Y homozygotes without cofactors for fibrosis 										
125052		hemochromatosis	METABOLIC	MET	Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Lucotte, G.  et al. 2003	12972035	C282Y			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Europe	CDC GDPinfo	3077	Hs.233325			Blood cells, molecules & diseases. 2003 Sep-Oct;31(2):262-7	A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of themutation?		235200	11018	2	2003	The highest European frequencies are observed in the Celtic populations in Ireland, in the United Kingdom, and in France, but elevated frequencies are also observed in Scandinavia.											
125053		diabetes, type 2; liver disease, chronic; hemochromatosis	UNKNOWN	UNK		6	6p21.3	HFE	26195487	26205036		Barton, J. C.  et al. 2004	15610558	I222N and G320V			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	African Americans		CDC GDPinfo	3077	Hs.233325			BMC medical genetics [electronic resource]. 2004 Dec;5:29	Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population		235200	11020	2	2004	 HJV I222N and G320V are probably uncommon causes or modifiers of primary iron overload in adult whites and African Americans in Alabama. Double heterozygosity for HJV I222N and HFE C282Y may not promote increased iron absorption.	Cohort 241/124 Caucasian (n=241) and African American (n=124) individuals from the general population Alabama 										
125049	Y	Childhood Leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	6	6p21.3	HFE	26195487	26205036	5e-06	Dorak MT et al. Blood 1999;94(11):3957	10627122	The most common functional mutation of HFE gene	Abolishes the cell surface expression of HFE protein	coding sequence	Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Caucasian (Western Europe)		M.Tevfik DORAK, MD PhD	3077	Hs.233325	Acute Lymphoblastic leukemia		Blood. 1999 Dec;94(11):3957	The C282Y mutation of HFE is another male-specific risk factor for childhood acute lymphoblastic leukemia		235200	3105	1	1999		Case:117 + 135; Control:415 + 238										
125050	N	cardiovascular	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Hemochromatosis	6	6p21.3	HFE	26195487	26205036	n	Hetet G et al. 2001	11711473				hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Heart (British Cardiac Society). 2001 Dec;86(6):70	Idiopathic dilated cardiomyopathy: lack of association with haemochromatosis gene in the CARDIGENE study.		235200	3106	1	2001												
125051		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Roman, R.  et al. 2001	11730630	5569G/A		intron	Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Spain	CDC GDPinfo	3077	Hs.233325			Med Clin (Barc). 2001 Dec;117(18):690-1	[Importance of 5569G/A polymorphism in intron 4 of HFE gene in the diagnosis of hereditary hemochromatosis]		235200	11017	2	2001	 Although misdiagnosis was not committed, we recommend changing to any primer that does not include the 5569G/A polymorphism in the study of HH.	Case:20 patients with hemochromatosis;Control:56:controls										
125046		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Hypertension|Hemochromatosis|Diabetes Mellitus, Type 2	6	6p21.3	HFE	26195487	26205036		Moczulski DK 2001	11423500	C282Y and H63D			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			Y Wang	3077	Hs.233325	diabetic nephropathy		Diabetes care. 2001 Jul;24(7):1187-91	Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.		235200	3102	1	2001	 In conclusion, our study is the first to indicate that being a carrier of the H63D hemochromatosis mutation is a risk factor for nephropathy in type 2 diabetic patients. We also confirmed previous observations that the frequency of the 282Y mutation was higher in patients with type 2 diabetes than it was in the general population of healthy subjects.											
125047		diabetes, type 2	METABOLIC	MET	Hemochromatosis|Diabetes Mellitus, Type 2|Iron Overload	6	6p21.3	HFE	26195487	26205036		Florkowski CM 1999	10369430	Cys282Tyr and His63Asp			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		New Zealand	Y Wang	3077	Hs.233325			Diabetes research and clinical practice. 1999 Mar;43(3):199-203	Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population.		235200	3103	1	1999												
125048		insulin resistance	METABOLIC	MET	Fatty Liver|Liver Cirrhosis|Insulin Resistance|Iron Overload	6	6p21.3	HFE	26195487	26205036		Bugianesi E 2004	14752836				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Hepatology (Baltimore, Md). 2004 Jan;39(1):179-87	Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver.		235200	3104	1	2004												
125044		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	6	6p21.3	HFE	26195487	26205036		Robson KJ 2004	15060098				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	European		KGB	3077	Hs.233325			Journal of medical genetics. 2004 Apr;41(4):261-5	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.		235200	3100	1	2004	 We suggest that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of APOE4. Since 4% of Northern Europeans carry the two iron-related variants and since iron overload is a treatable condition, these results merit replication.	Case:191/69 cases with definite or probable AD (n=191) and with mild cognitive impairment (n=69) from the OPTIMA:cohort;Control:269 healthy elderly controls										
125045	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	6	6p21.3	HFE	26195487	26205036		Hefler L 2004	14706682	C282Y			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		235200	3101	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
125041	Y	hereditary hemochromatosis	OTHER	OTH	Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Mikhailova SV 2003	12942784				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	russian	Russia|Siberia	KGB	3077	Hs.233325			Genetika. 2003 Jul;39(7):988-95	Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia , trans Polimorfizm gena HFE~~~ assotsiirovannogo s nasledstvennym gemokhromatozom~~~ v populiatsiiakh Rossii.		235200	3097	1	2003												
125043		hemochromatosis	METABOLIC	MET	Liver Diseases|Hemochromatosis|Chronic Disease	6	6p21.3	HFE	26195487	26205036		Thakur V 2004	14675248	Cys282Tyr			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	European	India	KGB	3077	Hs.233325			Journal of gastroenterology and hepatology. 2004 Jan;19(1):86-90	Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India.		235200	3099	1	2004	 Almost 10% of nonalcoholic CLD patients in India have iron overload, but this is independent of C282Y mutation of the HFE gene. Large population based studies are recommended to investigate the prevalence of this rare disorder in India.	Control:134 age matched healthy controls;Case:249 consecutive biopsy proven chronic liver disease:(HBV = 112, HCV = 72, cryptogenic = 65) patients										
125038		haemochromatosis	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Carter K 2003	12846904				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			British journal of haematology. 2003 Jul;122(2):326-32	Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis.		235200	3094	1	2003												
125039		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Dekker MC 2003	12902032				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Neuroscience letters. 2003 Sep;348(2):117-9	Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism.		235200	3095	1	2003												
125040		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6p21.3	HFE	26195487	26205036		van der A DL 2003	12948285				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Netherlands	KGB	3077	Hs.233325			Cancer causes & control. 2003 Aug;14(6):541-5	Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands).		235200	3096	1	2003	 The Cys282Tyr mutation is not associated with an increased risk for colorectal cancer in postmenopausal women, although in combination with smoking a slightly increased risk cannot be excluded.											
125035	Y	Colon Cancer	METABOLIC	MET	Colonic Neoplasms	6	6p21.3	HFE	26195487	26205036	0.14	Shaheen NJ 2003	12529348	H63D or C282Y mutations			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	residents of North Carolina	North Carolina	KEW	3077	Hs.233325	risk		Journal of the National Cancer Institute. 2003 Jan;95(2):154-9			235200	3091	1	2003	 HFE gene mutations are associated with an increased risk of colon cancer. Cancer risk is greatest in mutation carriers who are older or consume high quantities of iron.	Case:475; Control:833										
125036		Cystic Fibrosis	OTHER	OTH	Intestinal Obstruction|Cystic Fibrosis|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Rohlfs EM 1998	10464603	C282Y and H63D			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			Genetic testing. 1998 ;2(1):85-8			235200	3092	1	1998												
125037	N	cirrhosis	OTHER	OTH	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis	6	6p21.3	HFE	26195487	26205036	n	Boige V 2003	12865278				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Gut. 2003 Aug;52(8):1178-81	Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis.		235200	3093	1	2003	 C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis.											
125032	Y	increased serum iron transferrin saturation and hemoglobin	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Datz C et al. 1998	9836708				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Clinical chemistry. 1998 Dec;44(12):2429-32	Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron transferrin saturation and hemoglobin in young women: a protective role against iron deficiency?		235200	3088	1	1998												
125033	Y	genetic markers	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Barton JC et al. 1996	9075570				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Blood cells, molecules & diseases. 1996 ;22(3):195-204	Hemochromatosis: association of severity of iron overload with genetic markers.		235200	3089	1	1996												
125034	Y	hereditary hemochromatosis in African Americans.	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Monaghan KG et al. 1998	9662273				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			American journal of hematology. 1998 Jul;58(3):213-7	Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans.		235200	3090	1	1998												
125029	Y	longevity	AGING	AGE		6	6p21.3	HFE	26195487	26205036		Lio D et al. 2002	11857056				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Sicilian		KGB	3077	Hs.233325			Genes and immunity. 2002 Feb;3(1):20-4	Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population.		235200	3085	1	2002												
125030		thromboembolic disease	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Activated Protein C Resistance|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		MacLean RM et al. 1999	10520044				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			British journal of haematology. 1999 Oct;107(1):210-2	Factor V Leiden and the common haemochromatosis mutation HFE C282Y: is there an association in familial venous thromboembolic disease?		235200	3086	1	1999												
125031		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Beutler E et al. 1997	9234244				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Asia|Europe	KGB	3077	Hs.233325			Molecular medicine (Cambridge, Mass). 1997 Jun;3(6):397-402	HLA-H and associated proteins in patients with hemochromatosis.		235200	3087	1	1997	 The lack of additional mutations in the HLA-H gene is remarkable, and we speculate that the C282Y mutation may be a gain-of-function change.											
125026		hepatic iron and fibrosis	OTHER	OTH	Fatty Liver|Liver Cirrhosis	6	6p21.3	HFE	26195487	26205036		Chitturi S et al. 2002	12085358				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Australia	KGB	3077	Hs.233325			Hepatology (Baltimore, Md). 2002 Jul;36(1):142-9	HFE mutations hepatic iron and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity.		235200	3082	1	2002												
125027	Y	cardiovascular death	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cardiovascular Diseases|Myocardial Infarction|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Roest M et al. 1999	10491369				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Circulation. 1999 Sep;100(12):1268-73	Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women.		235200	3083	1	1999												
125028	Y	venous thromboembolism	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Brown K et al. 1999	10233369				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			British journal of haematology. 1999 Apr;105(1):95-7	Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation.		235200	3084	1	1999												
125023	Y	diabetes, type 2	METABOLIC	MET	Hemochromatosis|Diabetes Mellitus, Type 2	6	6p21.3	HFE	26195487	26205036		Malecki MT et al. 2003	12601293				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	population	Poland	KGB	3077	Hs.233325			Medical science monitor. 2003 Feb;9(2):BR91-5	A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population.		235200	3079	1	2003	 The frequency of HH-associated mutations in this population from south-eastern Poland is similar to other Caucasians. We found no evidence for the association of the C282Y mutation with T2DM. The results do suggest, however, that the H63D mutation may play a role in the pathogenesis of late onset T2DM and in males in this Polish population.	Control:169:controls;Case:222 Polish type 2 diabetics:Poland										
125024	Y	hereditary hemochromatosis.	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Walburger DK et al. 2001	11465544				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Mutation research. 2001 Jan;432(4-Mar):69-78	An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis.		235200	3080	1	2001												
125025	N	increased transferrin saturation	OTHER	OTH	Iron Overload	6	6p21.3	HFE	26195487	26205036	n	Arya N et al. 1999	10660483				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Blood cells, molecules & diseases. 1999 Oct-Dec;25(6-May):354-7	HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.		235200	3081	1	1999												
125020	Y	Life expectancy	OTHER	OTH	Hemochromatosis|Diseases in Twins	6	6p21.3	HFE	26195487	26205036		Bathum L 2001	11700156	Exons 2 and 4			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Danish	Denmark	TJB	3077	Hs.233325			Archives of internal medicine. 2001 Nov;161(20):2441-4			235200	3076	1	2001	 In a high-carrier frequency population like Denmark, mutations in HFE show an age-related reduction in the frequency of heterozygotes for C282Y, which suggests that carrier status is associated with shorter life expectancy.											
125021	Y	Hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Menardi G et al. 2002	12537660				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Genetic testing. 2002 ;6(4):331-4	A very rare association of three mutations of the HFE gene for hemochromatosis.		235200	3077	1	2002	The clinical symptoms and laboratory findings of the patient and his relatives are consistent with the conclusion that the E168Q mutation by itself is unlikely to result in hemochromatosis.											
125022		Hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Koeken A et al. 2002	11939483				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			KGB	3077	Hs.233325			Clinical chemistry and laboratory medicine. 2002 Feb;40(2):122-5	Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method.		235200	3078	1	2002												
125017	Y	Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathies|Heart Failure|Hemochromatosis|Disease Progression	6	6p21.3	HFE	26195487	26205036	p=0.0036	Pereira AC 2001	11545759	C282Y			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			The American journal of cardiology. 2001 Aug;88(4):388-91			235200	3073	1	2001												
125019	N	Cardiovascular Disease	CARDIOVASCULAR	CARD	Brain Infarction|Cardiovascular Diseases|Myocardial Infarction|Arteriosclerosis|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036	n	Hetet G 2001	11380589	C282Y and H63D			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		France|Great Britain|Northern Ireland	TJB	3077	Hs.233325			European journal of clinical investigation. 2001 May;31(5):382-8			235200	3075	1	2001	 These three studies do not provide consistent evidence supporting the hypothesis that HFE mutations are associated with an increased risk of cardiovascular disease and with the development of arteriosclerosis.											
125014		Rheumatoid Arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Li J 2000	10990216	C282Y and H63D			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			The Journal of rheumatology. 2000 Sep;27(9):2074-7			235200	3070	1	2000	 H63D mutation appears to play a role in pathogenesis of RA. This study is small and must be regarded as preliminary. These data therefore need confirmation from independent studies.											
125015	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Rasmussen ML 2001	11257277	C282Y			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			Atherosclerosis. 2001 Feb;154(3):739-46	A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: theAtherosclerosis Risk in Communities (ARIC) study.		235200	3071	1	2001	Our prospective findings suggest that individuals carrying the HFE C282Y mutation may be at increased risk of CHD.	Case:243 CHD patients:Cohort:535 non-CHD patients	smoking (tobacco)									
125016		Juvenile Hemochromatosis	HEMATOLOGICAL	HEM	Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Montes- Cano M 2002	12064925				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Spanish	Spain	TJB	3077	Hs.233325			Blood cells, molecules & diseases. 2002 Mar-Apr;28(2):297-300			235200	3072	1	2002												
125011	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease|Hemochromatosis	6	6p21.3	HFE	26195487	26205036	n	Battiloro E 2000	10854101	C282Y and H63D			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			European journal of human genetics. 2000 May;8(5):389-92			235200	3067	1	2000		Case:174; Control:329										
125012	N	haemochromatosis	OTHER	OTH	Hemochromatosis	6	6p21.3	HFE	26195487	26205036	n	Campo S 2001	11454185	C282Y. H63D. and S65C			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Northern European and Southern Italian (Sicily and Calabria)	Mediterranean Region	TJB	3077	Hs.233325			Liver. 2001 Aug;21(4):233-6	Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin		235200	3068	1	2001	 In Mediterranean populations from Southern Italy the C282Y mutation occurs sporadically and HFE polymorphisms seem to have little diagnostic relevance.	Case:100 chronic liver disease patients Sicily and Calabria;Case:100 type 2 diabetes patients Sicily and Calabria;Control:100 healthy controls Sicily and Calabria;Case:23 hepatocellular carcinoma patients Sicily and Calabria;Case:4 hereditary hemochromato										
125013	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hemochromatosis	6	6p21.3	HFE	26195487	26205036	n	Claeys D 2002	11886425	Cys282Tyr. His63Asp. and Ser65Cys			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Swiss Caucasian	Switzerland	TJB	3077	Hs.233325			European journal of clinical investigation. 2002 Mar;32 Suppl 1:8-Mar			235200	3069	1	2002	 No direct association was found between genetic haemochromatosis and myocardial infarction among Swiss whites. Raised ferritin levels among patients suggest a role of increased iron stores in myocardial infarction, but iron overload was not an independent risk factor for Swiss coronary heart disease patients.	Case:177; Control:89										
125007		Sandhoff disease	OTHER	OTH	Sandhoff Disease|Chromosome Deletion	5	5q13	HEXB	73971603	74052869		Bikker H et al. 1990	1975561				Hexosaminidase B (beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000521.2		Europe	KGB	3074	Hs.69293			Human genetics. 1990 Aug;85(3):327-9	Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.		606873	3062	1	1990												
125008	Y	dramatically different phenotypes	OTHER	OTH	Sandhoff Disease	5	5q13	HEXB	73971603	74052869		McInnes B et al. 1992	1386607			splice variant	Hexosaminidase B (beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000521.2			KGB	3074	Hs.69293			The Journal of clinical investigation. 1992 Aug;90(2):306-14	An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.		606873	3063	1	1992												
125009	N	Sandhoff disease	OTHER	OTH	Sandhoff Disease	5	5q13	HEXB	73971603	74052869	n	Redonnet-Vernhet I et al. 1996	8950198				Hexosaminidase B (beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000521.2			KGB	3074	Hs.69293			Biochimica et biophysica acta. 1996 Nov;1317(2):127-33	Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.		606873	3064	1	1996	We conclude that  homozygosity for the G1514-->A mutation is exclusively responsible for the adult form of Sandhoff disease in this family, and that the A619-->G substitution is not a deleterious mutation but rather a common HEXB polymorphism.											
125004		HDAC inhibitor-induced growth arrest.	OTHER	OTH		7	7p21.1	HDAC9	18296569	19003517		Hitomi T 2003	14623092				Histone deacetylase 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_058176			KGB	9734	Hs.196054			FEBS letters. 2003 Nov;554(3):347-50	p15(INK4b) in HDAC inhibitor-induced growth arrest.		606543	6646	1	2003												
125005	Y	isolated congenital pituitary hypoplasia and septo-optic dysplasia	OTHER	OTH		3	3p21.2-p21.1	HESX1	57207264	57209320		Thomas PQ et al. 2001	11136712				Homeo box (expressed in ES cells) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003865.1			KGB	8820	Hs.171980			Human molecular genetics. 2001 Jan;10(1):39-45	Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.		601802	6597	1	2001												
125006	Y	evolving hypopitutarism	OTHER	OTH	Hypopituitarism	3	3p21.2-p21.1	HESX1	57207264	57209320		Carvalho LR 2003	14561704				Homeo box (expressed in ES cells) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003865.1			KGB	8820	Hs.171980			The Journal of clinical investigation. 2003 Oct;112(8):1192-201	A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.		601802	6598	1	2003												
125000	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Disease Progression|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Ramos-Arroyo, M. A.  et al. 2005	15716522				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Spanish	Spain	CDC GDPinfo	3064	Hs.518450			Journal of neurology, neurosurgery, and psychiatry. 2005 Mar;76(3):337-42	Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of directgenetic testing.		143100	17122	2	2005	 Direct HD genetic testing shows that the incidence and mutation rates of the disease are 2-3 times higher than previously reported. We also demonstrated the relevance of CAG repeat length assessment in diagnosing patients with late onset of symptoms and negative family history for HD.	Cohort 317 patients with symptoms compatible with Huntington's disease Spain 1994-2002 										
125001		Huntingtons disease	NEUROLOGICAL	NEUR	Huntington Disease|Atrophy	4	4p16.3	HD	3046205	3215485			16324236				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Functional neurology. 2005 Jul-Sep;20(3):127-30	Caudate nucleus atrophy in Huntington's disease and its relationship with clinical and genetic parameters		143100	17123	2	2005												
125002		myotonic dystrophy type 1	OTHER	OTH	Spinocerebellar Ataxias	4	4p16.3	HD	3046205	3215485		Savic, D.  et al. 2001	11807410				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		143100	26112	2	2001	Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions.	Control:133 healthy control subjects;Case:52 myotonic dystrophy type 1 patients;Control:68 patients with non-triplet neuromuscular diseases caused by point mutations, deletions or:duplications										
124997		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Wang, C. K.  et al. 2004	15273431				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Taiwanese	Taiwan	CDC GDPinfo	3064	Hs.518450			European neurology. 2004 ;52(2):96-100	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients.		143100	17119	2	2004	The data suggested frequent haplotypes in the Taiwanese population on which one or more mutational events leading to the disease occurred.	Control:172 unrelated normal subjects matched to the patients for ethnic origin;Case:53 Huntington's disease (HD) patients:Taiwan										
124998		Huntington's disease	NEUROLOGICAL	NEUR	Cognition Disorders|Huntington Disease	4	4p16.3	HD	3046205	3215485		Lemiere, J.  et al. 2004	15316797				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Journal of neurology. 2004 Aug;251(8):935-42	Cognitive changes in patients with Huntington's disease (HD) and asymptomatic carriers of the HD mutation--a longitudinal follow-up study.		143100	17120	2	2004	 Tasks measuring mainly attention, object and space perception and executive functions adequately assess the progression of HD disease. Other cognitive functions do not significantly deteriorate. Furthermore, problems in attention, working memory, verbal learning, verbal long-term memory and learning of random associations are the earliest cognitive manifestations in AC.	Cohort 42 subjects (19 Huntington's disease patients, 12 Huntington's disease mutation-carriers and 11 non-carriers) 										
124999	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Margolis, R. L.  et al. 2004	15468075				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Japanese, North America	North America|Japan	CDC GDPinfo	3064	Hs.518450			Annals of neurology. 2004 Nov;56(5):670-4	Huntington's Disease-like 2 (HDL2) in North America and Japan.		143100	17121	2	2004	The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype.	Cohort individuals from nine independent series of patients referred for HD testing or selected for the presence of an HD-like phenotype in North America or Japan North America and Japan 										
124994		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Taylor, S. D.   2004	14572927				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		Australia	CDC GDPinfo	3064	Hs.518450			Social science & medicine (1982). 2004 Jan;58(1):137-49	Predictive genetic test decisions for Huntington's disease: context, appraisal and new moralimperatives.		143100	17116	2	2004	Selected moral and ethical considerations involved in decision-making are examined, as well as the clinical and socio-political contexts in which predictive testing is located. The paper argues that psychosocial vulnerabilities generated by the availability of testing technologies and exacerbated by policy imperatives towards individual responsibility and self-governance should be addressed at broader societal levels.	Cohort 16 individuals at 50% risk for Huntington's disease 										
124995		sleep disorders; Tourette syndrome	UNKNOWN	UNK	Huntington Disease	4	4p16.3	HD	3046205	3215485			14714490				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	European	Russia	CDC GDPinfo	3064	Hs.518450			Molekuliarnaia biologiia. 2003 Nov-Dec;37(6):961-70	[In Process Citation]		143100	17117	2	2003	Micro-differentiation of the Volga-Ural populations corresponded to the European type.	Cohort Eleven populations of the Volga-Ural region Volga-Ural region 										
124996		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Decruyenaere, M.  et al. 2004	15032971				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Clinical genetics. 2004 Jan;65(1):24-31	Predictive testing for Huntington's disease:relationship with partners after testing.		143100	17118	2	2004	Qualitative data show that a test result leading to changed roles may induce significant marital distress. Another consequence of the test may be the changes in dynamics in asymptomatic carrier couples. A pre-test discussion of the possible impact of the test result on the relationship should result in a better preparation for and more understanding of the reactions after testing. Counselling after testing should stimulate an open communication between partners with consideration of needs and anxieties of both partners.	Cohort 26 carriers of the HD gene variant and 14 of their partners Cohort 33 non-carriers, and 17 or their partners 										
124991		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Disease Progression	4	4p16.3	HD	3046205	3215485		Squitieri, F.  et al. 2002	12548366				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Neurological sciences. 2002 Sep;23 Suppl 2:S107-8	CAG mutation effect on rate of progression in Huntington's disease.		143100	17113	2	2002	In conclusion, the CAG expanded repeat affects the disease progression only at a very upper pathological range and in rare cases initiating very early in the life, while it does not seem to affect in any way the severity of the phenotype in most HD patients. Other factors affecting the motor symptom progression, other than the expanded repeats, therefore have to be investigated.	Cohort 80 patients with Huntington's disease 										
124992	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Djousse, L.  et al. 2003	12784292				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		New England	CDC GDPinfo	3064	Hs.518450			American journal of medical genetics Part A. 2003 Jun;119(3):279-82	Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.		143100	17114	2	2003	These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.	Cohort 221/533 individuals from the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons 										
124993	N	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Akbas, F.  et al. 2003	12824708				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Turkish	Turkey	CDC GDPinfo	3064	Hs.518450			European neurology. 2003 ;50(1):20-4	DNA testing for Huntington disease in the Turkish population.		143100	17115	2	2003	The length of the CAG repeat expansion in Turkish HD patients and normal controls was similar to that reported from other populations. Negative correlations (r = -0.67) were also found between age of disease onset and repeat length.	Control:122 healthy controls;Case:127 paitents with Huntington's disease:Turkey										
124988		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Hecimovic, S.  et al. 2002	12204002				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		Croatia	CDC GDPinfo	3064	Hs.518450			Human mutation. 2002 Sep;20(3):233	Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, andDelta2642 (E2642del) polymorphisms.		143100	17110	2	2002	Our results indicate that HD mutations in Croatia could be of the same origin as in Western populations and also support the multi-step hypothesis for generating new HD alleles. Similar frequencies and distributions of both the CCG and the Delta2642 polymorphisms in Croatia and Western European normal chromosomes indicate that the prevalence rate of HD in Croatia may be as high as in Western populations. Since we estimated a lower	Case:44 Huntington patients:Croatia;Control:51 normal individuals										
124989		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Personality Disorders	4	4p16.3	HD	3046205	3215485		Close Kirkwood, S.  et al. 2002	12393306				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Journal of psychiatric research. 2002 Nov-Dec;36(6):377-82	Evaluation of psychological symptoms among presymptomatic HD gene carriers as measured by selected MMPI scales		143100	17111	2	2002	These results verify the presence of psychological symptoms in the early phases of MHD but not in PSGC. Thus, further study of the behavioral and mood symptoms thought to accompany HD using measures designed specifically to detect depressive symptoms and changes in behavior specific to HD is warranted to delineate the timing of onset of the psychological symptoms.	Cohort nongene carriers (NGC) (n=363), presymptomatic gene carriers (PSGC) (n=149), and those with manifest HD (MHD) (n=26) 										
124990		Huntington's disease; ataxia (SCA)	NEUROLOGICAL	NEUR	Huntington Disease|Cerebellar Ataxia	4	4p16.3	HD	3046205	3215485		Goizet, C.  et al. 2002	12427879				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		France	CDC GDPinfo	3064	Hs.518450			Neurology. 2002 Nov;59(9):1330-6	Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.		143100	17112	2	2002	 Counseling in multistep and multidisciplinary teams is important not only for presymptomatic testing in HD but also for less disabling diseases.	Cohort 712/46 persons seeking presymptomatic testing for HD (n = 712) and ADCA (n = 46) in 10 French centers 										
124985		Huntington's disease	NEUROLOGICAL	NEUR	Nervous System Diseases|Huntington Disease|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Horowitz, M. J.  et al. 2001	11745989				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			American journal of medical genetics. 2001 Oct;103(3):188-92	Psychological impact of news of genetic risk for Huntington disease.		143100	17107	2	2001	Results for noncarriers and carriers without HD neurological symptoms were consistent with the findings of previous studies indicating that news of genetic testing for the HD gene had limited detrimental impact.	Cohort participants involved in a 1-year longitudinal study 										
124986		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	4	4p16.3	HD	3046205	3215485		Berrios, G. E.  et al. 2002	11939977				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Acta psychiatrica Scandinavica. 2002 Mar;105(3):224-30	Psychiatric symptoms in neurologically asymptomatic Huntington's disease gene carriers: a comparisonwith gene negative at risk subjects.		143100	17108	2	2002	 The groups differed with respect to their profile of psychiatric symptoms. It is hypothesized that these differences are the expression of different mechanisms, i.e. that cognitive deficits relate more to genetic factors and neurotic complaints more to being brought up in a disturbed family background. Issues concerning instrument sensitivity, selection bias and the advantage of seriatim assessments are discussed.	Cohort subjects who were free from neurological and cognitive deficits (neurologically asymptomatic) 										
124987		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Evers-Kiebooms, G.  et al. 2002	11973620				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		Europe	CDC GDPinfo	3064	Hs.518450			European journal of human genetics. 2002 Mar;10(3):167-76	Predictive DNA-testing for Huntington's disease and reproductive decision making: a Europeancollaborative study		143100	17109	2	2002	The collaborative study clearly revealed an overall impact of the predictive test result on subsequent reproduction	Cohort 180/271 carriers (n=180) and non-carriers (n=271) who received a predictive test result in 1993-1998 Britain, Athens, Leiden, Leuven, Paris, Rome 										
124982		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Raskin, S.  et al. 2000	11105061				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		Brazil	CDC GDPinfo	3064	Hs.518450			Arquivos de neuro-psiquiatria. 2000 Dec;58(4):977-85	Huntington disease: DNA analysis in Brazilianpopulation.		143100	17104	2	2000	Data generated from this study may have significant implications for the etiology, knowledge of the incidence, diagnosis, prognosis, genetic counseling and treatment of HD Brazilian patients.	Case:44 Brazilian subjects with clinical findings suggestive of Huntington's disease;Control:92 Brazilian controls without Huntington's disease										
124983	N	Huntington's disease; ataxia (SCA)	NEUROLOGICAL	NEUR	Huntington Disease|Spinocerebellar Ataxias	4	4p16.3	HD	3046205	3215485		Cannella, M.  et al. 2001	11487199				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Neurological sciences. 2001 Feb;22(1):55-6	Presymptomatic tests in Huntington's disease and dominant ataxias		143100	17105	2	2001	There were no adverse events to results of both HD and SCA presymptomatic diagnoses.	Cohort 165 individuals requiring predictive Huntington's disease diagnosis 										
124984		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Almqvist, E.  et al. 2001	11595021				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6		British Columbia	CDC GDPinfo	3064	Hs.518450			Clinical genetics. 2001 Sep;60(3):198-205	High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.		143100	17106	2	2001	The findings indicate a three to four times higher new mutation rate than previously reported. Our findings also show that the yearly incidence rate for HD was 6.9 per million, which is two times higher than previous incidence studies performed prior to the identification of the HD mutation. We also identified five persons with a clinical presentation of HD but without CAG expansion (genocopies) (2.4%).	Cohort 205 All symptomatic individuals residing in BC who were referred for the genetic test for HD 1993-2000 										
124979		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Yu, S.  et al. 2000	11149616				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			Clinical genetics. 2000 Dec;58(6):469-72	Polymorphisms in the CAG repeat--a source of error in Huntington disease DNA testing.		143100	11014	2	2000	The PCR assay failed to detect one allele in the CAG alone assay because of single-base silent polymorphisms in the penultimate or the last CAG repeat. The region around and within the CAG repeat sequence in the Huntington disease gene is a hot-spot for DNA polymorphisms, which can occur in up to 1% of subjects tested for Huntington disease. These polymorphisms may interfere with amplification by PCR, and so have the potential to produce a diagnostic error.	Cohort 400 patients referred for Huntington's disease testing 										
124980		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		Saleem, Q.  et al. 2003	12956863				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Indian	India	CDC GDPinfo	3064	Hs.518450			Acta neurologica Scandinavica. 2003 Oct;108(4):281-6	Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population.		143100	11015	2	2003	 The distribution of CAG repeats in the normal population suggests a higher prevalence of HD, closer to that seen in Western Europe. Haplotype analysis suggests the presence of a founder mutation in a subset of families and provides evidence for multiple and geographically distinct origins for the HD mutation in India.	Cohort 150 ethnically matched controls India 										
124981	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p16.3	HD	3046205	3215485		McCusker, E. A.  et al. 2000	11008591				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Australian	New South Wales	CDC GDPinfo	3064	Hs.518450			The Medical journal of Australia. 2000 Aug;173(4):187-90	Prevalence of Huntington disease in New South Wales in 1996		143100	17103	2	2000	 Prevalence of HD in NSW is similar to estimated prevalence in other Australian and Western populations. Increasing numbers of cases are being diagnosed, and the 18 chronic care beds currently designated for HD patients in NSW are unlikely to be sufficient.	Cohort Huntington disease (HD) in New South Wales on Australian Census Day (6 August) 1996. 										
124976		sleep disorders; Tourette syndrome	OTHER	OTH	Tourette Syndrome|Disorders of Excessive Somnolence	6	6p11-q11	HCRTR2	55147029	55255377		Thompson, M. D.  et al. 2004	15274044				Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2			CDC GDPinfo	3062	Hs.151624			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):69-75	Variants of the orexin2/hcrt2 receptor gene identified in patients with excessive daytime sleepiness and patients with Tourette's syndrome comorbidity.		602393	17102	2	2004	Analysis of the ability of the mutant receptors to mobilize calcium compared to the wild-type receptor in response to orexin agonists indicated that they resulted in decreased potency at high (etaM) concentrations of orexin ligands. Further work is warranted to study the variability of the orexin/hypocretin system in a variety of disorders characterized by EDS.	Control:110 control subjects;Case:28/28/70 idiopathic sleep disorder patients diagnosed with excessive daytime sleepiness (EDS) (n = 28), narcolepsy (n = 28), Tourette's syndrome/chronic vocal or motor tic disorder (n = 70)										
124977		polydipsia	OTHER	OTH	Hyponatremia|Schizophrenia	6	6p11-q11	HCRTR2	55147029	55255377		Meerabux, J.  et al. 2005	15978554				Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2			CDC GDPinfo	3062	Hs.151624			Biological psychiatry. 2005 Sep;58(5):401-7	Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects.		602393	26111	2	2005	 Our preliminary data suggest that mutation carriers might have an increased susceptibility to polydipsia through an undetermined mechanism.											
124978	N	Tourette syndrome	PSYCH	PSY	Huntington Disease|Tourette Syndrome	4	4p16.3	HD	3046205	3215485	n	Hebebrand J et al. 1995	7727632				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			KGB	3064	Hs.518450			Biological psychiatry. 1995 Feb;37(3):209-11	No association between length of the (CAG)n repeat of the Huntington's disease gene and Tourette's syndrome.		143100	3061	1	1995												
124973		polydipsia	OTHER	OTH	Hyponatremia|Schizophrenia	17	17q21	HCRT	37589603	37590996		Meerabux, J.  et al. 2005	15978554				Hypocretin (orexin) neuropeptide precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001524.1			CDC GDPinfo	3060	Hs.158348			Biological psychiatry. 2005 Sep;58(5):401-7	Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects.		602358	21693	2	2005	 Our preliminary data suggest that mutation carriers might have an increased susceptibility to polydipsia through an undetermined mechanism.											
124974		polydipsia	OTHER	OTH	Hyponatremia|Schizophrenia	1	1p33	HCRTR1	31855873	31865801		Meerabux, J.  et al. 2005	15978554				Hypocretin (orexin) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001525.1			CDC GDPinfo	3061	Hs.388226			Biological psychiatry. 2005 Sep;58(5):401-7	Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects.		602392	24581	2	2005	 Our preliminary data suggest that mutation carriers might have an increased susceptibility to polydipsia through an undetermined mechanism.											
124975	Y	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	6	6p11-q11	HCRTR2	55147029	55255377		Rainero, I.  et al. 2004	15477554				Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2			CDC GDPinfo	3062	Hs.151624			Neurology. 2004 Oct;63(7):1286-8	A polymorphism of the hypocretin receptor 2 gene is associated with cluster headache.		602393	11013	2	2004	The data suggest that the HCRTR2 gene or a linked locus significantly modulates the risk for cluster headache.	Case:109 cluster headache patients;Control:211:controls										
124969	Y	seizures, febrile	NEUROLOGICAL	NEUR	Seizures, Febrile|Genetic Predisposition to Disease	19	19p13.3	HCN2	540892	568159		Ma, Y. N.  et al. 2005	15932727				Hyperpolarization activated cyclic nucleotide-gated potassium channel 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001194.2	Chinese		CDC GDPinfo	610	Hs.124161			Zhonghua yi xue za zhi. 2005 Mar;85(10):663-6	[Association between familial febrile convulsions and HCN2 gene]		602781	17099	2	2005	 HCN2 may not be a susceptibility gene for FC in Chinese population.	Control:101 normal children from the same area;Case:60 children with familial febrile convulsion (FC) of Han nationality population, aged 1.5 +/- 1.0 (8 months to 5 years old) northern China										
124971	N	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	17	17q21	HCRT	37589603	37590996		Hungs, M.  et al. 2001	11723284				Hypocretin (orexin) neuropeptide precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001524.1			CDC GDPinfo	3060	Hs.158348			Neurology. 2001 Nov;57(10):1893-5	Polymorphisms in the vicinity of the hypocretin/orexin are not associated with human narcolepsy		602358	11011	2	2001	None of the subjects carried -22T, a rare 5'UTR polymorphism previously reported to be associated with narcolepsy. The HCRT locus is not a major narcolepsy susceptibility locus.	Cohort 105 trio families ;Control:107 Caucasian control subjects;Case:80 Caucasian narcolepsy cases										
124972		sleep disorders	OTHER	OTH	Parkinson Disease|Disorders of Excessive Somnolence	17	17q21	HCRT	37589603	37590996		Rissling, I.  et al. 2005	16124668				Hypocretin (orexin) neuropeptide precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001524.1			CDC GDPinfo	3060	Hs.158348			Sleep. 2005 Jul;28(7):871-5	Preprohypocretin polymorphisms in Parkinson disease patients reporting "sleep attacks".		602358	11012	2	2005	 Our results show a significant association between the (-909T/C) preprohypocretin polymorphism and sudden onset of sleep in Parkinson disease. However, we could not demonstrate any interaction between the Taq IA and (-909T/C) polymorphisms with respect to the occurrence of sudden onset of sleep, suggesting that multiple genetic factors may contribute to the pathogenesis of this phenomenon.											
124966		beta-thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBG2	5226077	5623587		Winichagoon, P.  et al. 2000	11132233				Hemoglobin, gamma G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR616680			CDC GDPinfo	3048	Hs.302145			Journal of pediatric hematology/oncology. 2000 Nov-Dec;22(6):573-80	Genetic factors affecting clinical severity in beta-thalassemia syndromes.		142250	21691	2	2000	 Types of beta-thalassemia mutation and coinheritance of alpha-thalassemia in the patient who has at least one allele of the mild beta-thalassemia genotype are predictive for the clinical severity of the disease. However, a mild clinical symptom in some patients with betao/beta+-thalassemia or betao-thalassemia/Hb E who do not have a detectable alpha-thalassemia haplotype and no linkage with XmnI++ suggests that there are other confounding factors responsible for the severity differences of the disease.	Cohort 144 patients with beta-thalassemia were divided into mild (46 patients), intermediate (55 patients), and severe groups (43 patients). 										
124967	Y	liver cancer	CANCER	CAN	Liver Neoplasms	11	11p15.5	HCCA2	1447268	1458691		Wang Z et al. 2001	11798894				HCCA2 protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053005.2			KGB	81532	Hs.370360			Zhonghua yi xue za zhi. 2001 Mar;81(6):332-5	Cloning of liver cancer-related gene HCCA2 and association of that gene with liver cancer			6845	1	2001	 The novel gene HCCA2 may be related with the infiltration and proliferation of liver cancer.											
124968		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	3	3q13	HCLS1	122832935	122862405		Otsuka, J.  et al. 2004	15022330				Hematopoietic cell-specific Lyn substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005335.3			CDC GDPinfo	3059	Hs.14601			Arthritis and rheumatism. 2004 Mar;50(3):871-81	Association of a four-amino acid residue insertion polymorphism of the HS1 gene with systemic lupus erythematosus: molecular and functional analysis.		601306	11008	2	2004	 These results suggest that HS1 with the EPEP insertion polymorphism transmits accelerated signals from BCR and is involved in the pathogenesis of SLE.	Control:184 healthy individuals;Case:201 patients with SLE										
124963		thalassemia	HEMATOLOGICAL	HEM	Thalassemia	11	11p15.5	HBE1	5246155	5483458		Chan, L. C.  et al. 2001	11304851				Hemoglobin, epsilon 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005330.3		Thailand|China	CDC GDPinfo	3046	Hs.211831			Journal of clinical pathology. 2001 Apr;54(4):317-20	Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?		142100	21689	2	2001	 Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.	Cohort 95 subjects with MCV between 80 and 85 fL 										
124964		thalassemia; thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBE1	5246155	5483458		Krishnamurti L   2000	11132230				Hemoglobin, epsilon 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005330.3	Indian	India	CDC GDPinfo	3046	Hs.211831			Journal of pediatric hematology/oncology. 2000 Nov-Dec;22(6):558-63	Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or completeexclusion of beta-thalassemia by hemoglobin E.		142100	21690	2	2000	 A potentially large pool of unsuspected Hb E/beta-thalassemia cases exist in northeast India. The significance of this finding and possible contributory factors are discussed.	Cohort northeast India 										
124965	Y	Increased expression of the G gamma and A gamma globin	IMMUNE	IMM	beta-Thalassemia	11	11p15.5	HBG2	5226077	5623587		Balta G et al. 1994	7515719				hemoglobin, gamma G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR616680			KGB	3048	Hs.302145			Blood	Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer.		142250	3059	1	1994												
124960		thalassemia; thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Krishnamurti L   2000	11132230				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Indian	India	CDC GDPinfo	3043	Hs.523443			Journal of pediatric hematology/oncology. 2000 Nov-Dec;22(6):558-63	Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or completeexclusion of beta-thalassemia by hemoglobin E.		141900	17097	2	2000	 A potentially large pool of unsuspected Hb E/beta-thalassemia cases exist in northeast India. The significance of this finding and possible contributory factors are discussed.	Cohort northeast India 										
124961		cholelithiasis	METABOLIC	MET	Cholelithiasis|Gallstones|beta-Thalassemia|Gilbert Disease	11	11p15.5	HBB	5203271	5204877		Borgna-Pignatti, C.  et al. 2003	14555305				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			Haematologica. 2003 Oct;88(10):1106-9	Thalassemia minor, the Gilbert mutation, and the risk of gallstones		141900	20091	2	2003	 Thalassemia minor represents a risk factor for cholelithiasis and the Gilbert mutation further increases this risk. This is an additional example of how two genotypes can interact and modify a phenotype.	Case:143 women obligate carriers of beta-thalassemia;Control:170 hemotologically normal women		UGT1-A1	[(TA)7/(TA)6]	Gilbert mutation				Y		cholelithiasis
124962		sickle cell anemia; G6PD deficiency	HEMATOLOGICAL	HEM	Malaria, Falciparum|Sickle Cell Trait|Glucosephosphate Dehydrogenase Deficiency	11	11p15.5	HBB	5203271	5204877		Moormann, A. M.  et al. 2003	15307413				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Kenya	CDC GDPinfo	3043	Hs.523443			Transactions of the Royal Society of Tropical Medicine and Hygiene. 2003 Sep-Oct;97(5):513-4	Frequencies of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency differ in highland and nearby lowland malaria-endemic areas of Kenya.		141900	21688	2	2003	Lack of protective polymorphisms may contribute to morbidity and mortality during outbreaks of malaria in the highlands.	Cohort malaria-holoendemic lowland and highland area subjects Kenya 										
124957		thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Falchi, A.  et al. 2005	15609277				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Corsican	France|Italy	CDC GDPinfo	3043	Hs.523443			American journal of hematology. 2005 Jan;78(1):27-32	beta-globin gene cluster haplotypes associated with beta-thalassemia on Corsica island		141900	17094	2	2005	For the first time, this paper analyzes the association of beta-globin gene cluster haplotypes with the 2 more frequent beta-thalassemia mutations in an isolated population in the centre of Corsica (Corte), which presents certain genetic peculiarities. However, the analysis of beta-haplotypes will be very useful for the genetic epidemiological study in this region.	Cohort 43/47 non-related beta-thalassemia heterozygotes (n=43) and nonrelated healthy individuals (n=47) Corsica 										
124958		thalassemia	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Zhou, Y.  et al. 2005	15793780				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Chinese		CDC GDPinfo	3043	Hs.523443			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):180-4	[Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR]		141900	17095	2	2005	 The single-tube multiplex PCR protocol presented in this study is easy-to-handle, rapid, reliable and is cost-effective for detecting --(SEA), -alpha (3.7) and -alpha (4.2) chromosomes, and it is suitable for large-scale population screening and for rapid molecular genotyping in clinics.	Cohort 72 blood and prenatal archival DNA samples with various known alpha thalassemia genes or normal alpha globin gene sequence that had been confirmed by Southern blotting analysis or DNA sequencing 										
124959		thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia|Genetic Predisposition to Disease	11	11p15.5	HBB	5203271	5204877		Piras, I.  et al. 2005	16254903				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Italian	Italy	CDC GDPinfo	3043	Hs.523443			American journal of human biology. 2005 Nov-Dec;17(6):765-72	Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy.		141900	17096	2	2005												
124954		hemoglobin disorders	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Zhou, Y. Q.  et al. 2004	15482674				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			Zhonghua er ke za zhi Chinese journal of pediatrics. 2004 Sep;42(9):693-6	[Clinical phenotype genotype correlation in children with hemoglobin H disease in Zhuhai area of China.]		141900	17091	2	2004	 The phenotypes of HbH disease may be mainly related to the underlying genotypes. The children with alpha(T)alpha/--(SEA) genotype presented with more severe hematological and clinical phenotypes followed by the -alpha(4.2)/--(SEA) and then -alpha(3.7)/--(SEA) genotypes. But phenotypic severity was not simply related to the degree of alpha-globin deficiency. HbH levels were found to exacerbate anemia. These data might provide comprehensive and very valuable and basic information for the management of HbH disease, genetic counseling and prenatal diagnosis.	Cohort 43 children with hemoglobin H disease Zhuhai area of China 										
124955		thalassemia	HEMATOLOGICAL	HEM	alpha-Thalassemia|beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Kow Yin, S. K.  et al. 2004	15591902				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	multiracial Asian population in Singapore	Malaysia|Singapore|India|China	CDC GDPinfo	3043	Hs.523443			Journal of pediatric hematology/oncology. 2004 Dec;26(12):817-9	A molecular epidemiologic study of thalassemia using newborns' cord blood in a multiracial Asian population in Singapore: results andrecommendations for a population screening program.		141900	17092	2	2004	The highly accurate results make this molecular epidemiologic screening an ideal method to screen for and prevent severe thalassemia in high-risk populations.	Cohort 1,116 unselected sequential cord blood samples 										
124956		thalassemia, beta	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Magana, M. T.  et al. 2005	15607699				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Mexican		CDC GDPinfo	3043	Hs.523443			Blood cells, molecules & diseases. 2005 Jan-Feb;34(1):48-52	3' haplotypes of the beta-globin gene in beta(s)-chromosomes of Mexican individuals		141900	17093	2	2005	We stress the importance of the study of DNA polymorphisms at 3' Hp to allow understanding of the genetic diversity of beta(S)-chromosomes, as well as their implications in beta(S) gene expression and the possible effects on the clinical phenotype.	Cohort Mexican mestizos with African west coast origins 										
124951		sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	11	11p15.5	HBB	5203271	5204877		Costa, C.  et al. 2003	14529320				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			Molecular diagnosis. 2003 ;7(1):45-8	A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination		141900	17087	2	2003	We show in addition, that as little as 5% maternal contamination can be detected and that genotype determinations are unambiguous.	Cohort 20/50 retrospective (n=20) and prospective (n=50) cases of sickle cell disease 										
124952		sickle cell anemia	OTHER	OTH	Anemia, Sickle Cell|Sickle Cell Trait|Thalassemia	11	11p15.5	HBB	5203271	5204877		Rahimi, Z.  et al. 2003	14587041				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Iranian	Iran	CDC GDPinfo	3043	Hs.523443			American journal of hematology. 2003 Nov;74(3):156-60	Beta-globin gene cluster haplotypes in sickle cell patients from southwest Iran.		141900	17088	2	2003	The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population.	Case:81 randomly selected sickle cell patients, including 47 sickle cell anemia (SS), 17 sickle cell trait (AS), and 17 sickle/thalassemia (S/thal) southwest Iran										
124953		Hb F	UNKNOWN	UNK	Thalassemia|beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		De Angioletti, M.  et al. 2004	15327529				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Turkey|Greece|Italy|Sicily	CDC GDPinfo	3043	Hs.523443			British journal of haematology. 2004 Sep;126(5):743-9	Beta-thalassaemia-87 C-->G: relationship of the HbF modulation and polymorphisms in compound heterozygous patients.		141900	17090	2	2004	The high increase of the Hb F, mostly of the (G)gamma-type, strongly suggests the hypothesis that the 'T'-158 (G)gamma plays a principal role and that the other polymorphisms could exert a cooperative role in the modulation of Hb F in patients with erythropoietic stress.	Cohort 17 patients affected with thalassemia intermedia, who were compound heterozygotes for the beta-thalassaemia mutation beta-87 C-->G 										
124948		thalassemia, beta	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	11	11p15.5	HBB	5203271	5204877		Crawford, D. C.  et al. 2002	12394345				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			Genetics in medicine. 2002 Sep-Oct;4(5):328-35	Characterization of beta-globin haplotypes using blood spots from a population-based cohort of newborns with homozygous HbS.		141900	17084	2	2002	 The differences between populations probably reflect recent migration and admixture rather than selection.	Cohort a population-based cohort from three state newborn screening programs 										
124949		thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Georgiou, I.  et al. 2003	12581187				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Greece	CDC GDPinfo	3043	Hs.523443			European journal of haematology. 2003 Feb;70(2):75-8	Distribution and frequency of beta-thalassemia mutations in northwestern and central Greece		141900	17085	2	2003	 Population screening and prenatal diagnosis are significantly facilitated by these data. Furthermore, the detailed distribution tables of beta-thalassemia mutations are essential for counseling and extraction of genetic diversity estimates for population genetic studies in other inherited disorders.	Case:1130 unrelated subjects including 46 beta-thalassemia major, three beta -thalassemia intermedia and 1081 carriers identified in our antenatal screening:program										
124950	Y	sickle cell anemia	HEMATOLOGICAL	HEM	Pain|Anemia, Sickle Cell	11	11p15.5	HBB	5203271	5204877		Inati, A.  et al. 2003	12581188				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Lebanon	CDC GDPinfo	3043	Hs.523443			European journal of haematology. 2003 Feb;70(2):79-83	beta-Globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon		141900	17086	2	2003	Our findings suggest that fetal hemoglobin levels are important but not the only parameters that affect the severity of the disease. In addition, the high levels of HbF in patients with CAR haplotypes did not seem to ameliorate the severity of symptoms, suggesting that genetic factors other than haplotypes are the major determinants of increased HbF levels in Lebanon.	Cohort 50 patients diagnosed with sickle cell anemia Lebanon 										
124945		thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Pan, H.  et al. 1999	11721399				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		China	CDC GDPinfo	3043	Hs.523443			Zhonghua xue ye xue za zhi. 1999 Oct;20(10):527-8	[Screening of beta zero-thalassemia in cord blood from 2,423 newborns in Xilin county of Guangxi]		141900	17081	2	1999	 These data might be of help to prenatal diagnosis of beta zero-thalassemia in Guixi district.	Cohort 2423 newborns Xilin county of Guangxi, China 										
124946	Y	blood and blood forming organ disorders	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Zertal-Zidani, S.  et al. 2002	12082507				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			European journal of human genetics. 2002 May;10(5):320-6	Foetal haemoglobin in normal healthy adults:relationship with polymorphic sequences cis to the beta globin gene.		141900	17082	2	2002	More than 84% of the subjects with elevated HbF levels carried one or several of these four marker configurations, suggesting that the beta globin gene cluster exerts a significant effect on HbF expression in healthy individuals.	Cohort 827 unrelated healthy Algerian adults 										
124947	Y	thalassemia	HEMATOLOGICAL	HEM	Hemoglobinopathies	11	11p15.5	HBB	5203271	5204877		De Angioletti, M.  et al. 2002	12217813				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Albania	CDC GDPinfo	3043	Hs.523443			Haematologica. 2002 Sep;87(9):1002-3	Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders		141900	17083	2	2002	Genotype-phenotype correlation was established.	Cohort 58 unrelated Albanian patients 										
124942		thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Zahed, L.  et al. 2000	11186256				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Lebanon	CDC GDPinfo	3043	Hs.523443			Hemoglobin. 2000 Nov;24(4):269-76	Beta-thalassemia mutations and haplotype analysis in Lebanon.		141900	17078	2	2000	The five most common mutations were each found on two different haplotypes, and most linkages were as previously reported in other Mediterranean populations, with a few exceptions, also showing some clustering.	Cohort Lebanese beta-thalassemia samples 										
124943		thalassemia, beta	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Curuk, M. A.  et al. 2001	11480785				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Turkish	Turkey	CDC GDPinfo	3043	Hs.523443			Hemoglobin. 2001 May;25(2):241-5	Genetic heterogeneity of beta-thalassemia at Cukurova in southern Turkey.		141900	17079	2	2001	The frequency of common and rare mutations are reported, two of which were seen in Turkey for the first time	Cohort Carriers identified during a screening survey and patients referred to one laboratory Cukurova, Turkey 										
124944		Malaria infection	INFECTION	INF	Anemia, Sickle Cell|Sickle Cell Trait	11	11p15.5	HBB	5203271	5204877		Heijboer, H.  et al. 2001	11582643				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Africa|Suriname|Netherlands	CDC GDPinfo	3043	Hs.523443			Nederlands tijdschrift voor geneeskunde. 2001 Sep;145(37):1795-9	[One year of neonatal screening for sickle-cell disease in Emma Children's Hospital/Academic Medical Center in Amsterdam]		141900	17080	2	2001	 This targeted neonatal screening for sickle cell disease was feasible in a hospital setting. The number of children diagnosed with the disease supports the wider implementation of this method of early detection.	Cohort 1016 consecutive pregnant women under care of the Academic Medical Centre Amsterdam, the Netherlands November 1, 1998 through to October 31,1999 										
124939	Y	thalassemia	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Chen, J.  et al. 2004	15476181				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Chinese		CDC GDPinfo	3043	Hs.523443			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):498-501	[Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes]		141900	11007	2	2004	 beta-thalassemia mutations of CD41/42, CD17, CD71/72, IVS-II-654 had no influence on Hb F levels, but (G)Gamma-158(C-->T) had a strong association with moderately increased Hb F levels in beta-thalassemia heterozygotes in the Guangxi area of China.	Cohort 63 beta-thalassemia patients Guangxi, China 										
124940		thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Khateeb, B.  et al. 2000	11043018				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Pakistan	CDC GDPinfo	3043	Hs.523443			JPMA  The Journal of the Pakistan Medical Association. 2000 Sep;50(9):293-6	Genetic diversity of beta-thalassemia mutations in Pakistani population.		141900	17076	2	2000	 This study indicates that in Pakistan, the five most common mutations are IVS1-5 (G-C), IVS1-1 (G-T), Fr 41-42 (-TTCT) Fr 8-9 (+G) and deletion 619 bp. An important factor contributing to high incidence of thalassemia is the unawareness among people about the available diagnostic facilities for the prenatal diagnosis in Pakistan. Strict implementation of collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing beta-thalassemia in Pakistan.	Cohort 72 chorionic villus biopsy specimens from a tertiary care teaching hospital Karachi, Pakistan 										
124941		beta-thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Winichagoon, P.  et al. 2000	11132233				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDPinfo	3043	Hs.523443			Journal of pediatric hematology/oncology. 2000 Nov-Dec;22(6):573-80	Genetic factors affecting clinical severity in beta-thalassemia syndromes.		141900	17077	2	2000	 Types of beta-thalassemia mutation and coinheritance of alpha-thalassemia in the patient who has at least one allele of the mild beta-thalassemia genotype are predictive for the clinical severity of the disease. However, a mild clinical symptom in some patients with betao/beta+-thalassemia or betao-thalassemia/Hb E who do not have a detectable alpha-thalassemia haplotype and no linkage with XmnI++ suggests that there are other confounding factors responsible for the severity differences of the disease.	Cohort 144 patients with beta-thalassemia were divided into mild (46 patients), intermediate (55 patients), and severe groups (43 patients). 		beta-globin	beta+/beta+-thalassemia or beta+-thalassemia/Hb E	alpha- thalassemia haplotype		Ggamma-globin	XmnI polymorphism 5'	Y		beta-thalassemia
124936		transfusion-dependent Hb H disease	OTHER	OTH	Hydrops Fetalis|alpha-Thalassemia	11	11p15.5	HBB	5203271	5204877		Viprakasit V 2004	14978697				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			KGB	3043	Hs.523443			American journal of hematology. 2004 Mar;75(3):157-63	Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease.		141900	3058	1	2004												
124937		anemia in pregnancy	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Penaloza, R.  et al. 2001	11804203				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Mexican		CDC GDPinfo	3043	Hs.523443			Human biology; an international record of research. 2001 Dec;73(6):885-90	(AC)n dinucleotide repeat polymorphism in 5' beta-globin gene in native and Mestizo Mexican populations.		141900	11005	2	2001	We observed three alleles, A [(AC)16, B [(AC)14], and C [(AC)18], with a frequency of between 68.2% and 86.9%, 13.1% and 18.2%, and 6.7% and 13.7%, respectively. Allele C was present only in Purepecha and Mestizo groups.	Cohort Four ethnic Mexican groups (Mixteca, Nahua, Otomi, Purepecha) and a Mestizo population 										
124938		thalassemia, beta	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Hemoglobinopathies	11	11p15.5	HBB	5203271	5204877		Couto, F. D.  et al. 2004	15073633				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Brazil	CDC GDPinfo	3043	Hs.523443			Cad Saude Publica. 2004 Mar-Apr;20(2):529-33	C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador,Bahia, Brazil		141900	11006	2	2004	These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.	Cohort 683 newborns Cohort 763 newborns Cohort 843 neonates from two different maternity hospitals Salvador, Bahia, Brazil 										
124933		thalassemia	HEMATOLOGICAL	HEM	Thalassemia	16	16p13.3	HBA1	162874	167520		Chan, L. C.  et al. 2001	11304851				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		Thailand|China	CDC GDPinfo	3039	Hs.449630			Journal of clinical pathology. 2001 Apr;54(4):317-20	Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?		141800	17098	2	2001	 Based on the above figures and known prevalence rates of thalassaemia carriers, it would seem worthwhile to screen for globin gene mutations in partners of known thalassaemia carriers, regardless of MCV, to identify pregnancies at risk of Hb H disease or Hb E/beta thalassaemia.	Cohort 95 subjects with MCV between 80 and 85 fL 										
124934		sickle cell	OTHER	OTH	Anemia, Sickle Cell|Sickle Cell Trait|Thalassemia	11	11p15.5	HBB	5203271	5204877		Rahimi Z 2003	14587041				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Iran	KGB	3043	Hs.523443			American journal of hematology. 2003 Nov;74(3):156-60	Beta-globin gene cluster haplotypes in sickle cell patients from southwest Iran.		141900	3056	1	2003	The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population.	Case:81 randomly selected sickle cell patients, including 47 sickle cell anemia (SS), 17 sickle cell trait (AS), and 17 sickle/thalassemia (S/thal) southwest Iran										
124935		beta thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Lemsaddek W 2003	12827652				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	unknown	Morocco	KGB	3043	Hs.523443			American journal of hematology. 2003 Jul;73(3):161-8	Spectrum of beta thalassemia mutations and HbF levels in the heterozygous Moroccan population.		141900	3057	1	2003												
124930		microcytosis	OTHER	OTH	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Bergeron, J.  et al. 2005	15768555				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		North America	CDC GDPinfo	3039	Hs.449630			Hemoglobin. 2005 ;29(1):51-60	Prevalence of alpha-globin gene deletions among patients with unexplained microcytosis in a North-American population.		141800	17072	2	2005	We conclude that  a significant proportion (24.5%) of blood counts with microcytosis not explained by an iron deficiency, an inflammatory state or an abnormal Hb on HPLC, are caused by an alpha-globin gene deletion. The pertinence of genetic counseling for alpha-thal based on molecular diagnosis should be evaluated more formally in urban centers where this genetic condition is likely to have an increasing prevalence and clinical relevance.	Cohort 197 samples with normal ferritin and Hb HPLC Cohort 516 microcytic blood samples 										
124931		hemoglobin disorders	HEMATOLOGICAL	HEM	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Charoenkwan, P.  et al. 2005	15921165				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3	Thai	Thailand	CDC GDPinfo	3039	Hs.449630			Hemoglobin. 2005 ;29(2):133-40	Molecular and clinical features of Hb H disease in northern Thailand.		141800	17073	2	2005												
124932		thalasemia, alpha	HEMATOLOGICAL	HEM	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Sarkar, A. A.  et al. 2005	16042697				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		India	CDC GDPinfo	3039	Hs.449630			British journal of haematology. 2005 Aug;130(3):454-7	A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report ondeletional alpha-thalassaemia in the heterogeneous eastern Indian population.		141800	17074	2	2005												
124927		thalassemia, alpha	HEMATOLOGICAL	HEM		16	16p13.3	HBA1	162874	167520		Liu, J.  et al. 2001	11877072				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3			CDC GDPinfo	3039	Hs.449630			Zhonghua xue ye xue za zhi. 2001 Apr;22(4):193-6	[Study on new techniques for genetic diagnosis of deletional alpha-thalassemia]		141800	17069	2	2001	 The 3 PCR-based techniques established by our lab were accurate, simple, and well reproducible for gene diagnosis of the deletional alpha-thalassemia determinants.	Cohort not specified in abstract 										
124928		rheumatoid arthritis	IMMUNE	IMM	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Duan, S.  et al. 2003	12667291				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3	Chinese	China	CDC GDPinfo	3039	Hs.449630			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2003 Feb;11(1):54-60	[Study on gene mutations of alpha-thalassemia in the South of China]		141800	17070	2	2003	In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this reaserch probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.	Case:356 alpha-thalassemia patients South of China										
124929		thalassemia	HEMATOLOGICAL	HEM	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Liu, J. Z.  et al. 2004	15008263				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3	Chinese	China	CDC GDPinfo	3039	Hs.449630			Hemoglobin. 2004 Feb;28(1):39-44	Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method.		141800	17071	2	2004	To our surprise, the combined incidence of -alpha3.7 and -alpha4.2 was found to be as high as 38.0% among the Li people, and the -alpha4.2 genotype is more frequent than -alpha3.7 in the Li people. No SEA deletions were found in the Li samples.	Cohort 40 alpha-thalassemia patients Guangdong, Guangxi Province, China 										
124924		atopy; dermatitis and eczema	IMMUNE	IMM	Asthma|Eczema|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q33.3	HAVCR2	156445420	156468716		Graves, P. E.  et al. 2005	16159638				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3			CDC GDPinfo	84868	Hs.616365			The Journal of allergy and clinical immunology. 2005 Sep;116(3):650-6	Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33.		606652	12060	2	2005	 Our findings support a potential role for SNPs in TIM 1, TIM 3, and ITK, independent of each other, in allergic diseases.											
124925		asthma	IMMUNE	IMM	Hepatitis A|Asthma|Genetic Predisposition to Disease	5	5q33.3	HAVCR2	156445420	156468716		Gao, P. S.  et al. 2005	15867855				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3	African American		CDC GDPinfo	84868	Hs.616365			The Journal of allergy and clinical immunology. 2005 May;115(5):982-8	Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population		606652	21687	2	2005	 Our findings suggest that the genetic variants of the TIM-1 but not the TIM-3 gene contribute to asthma susceptibility in this African-American population.	Control:controls;Case African American asthmatic patients										
124926		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|alpha-Thalassemia|Genetic Predisposition to Disease	16	16p13.3	HBA1	162874	167520		Ubalee, R.  et al. 2005	15941417			promoter	Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		Melanesia	CDC GDPinfo	3039	Hs.449630			Tropical medicine & international health. 2005 Jun;10(6):544-9	Associations between frequencies of a susceptible TNF-alpha promoter allele and protective alpha-thalassaemias and malaria parasite incidence in Vanuatu.		141800	14363	2	2005												
124920	Y	asthma	IMMUNE	IMM	Hepatitis A|Asthma|Genetic Predisposition to Disease	5	5q33.2	HAVCR1	156389014	156418548		Gao, P. S.  et al. 2005	15867855				Hepatitis A virus cellular receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012206.1	African American		CDC GDPinfo	26762	Hs.129711			The Journal of allergy and clinical immunology. 2005 May;115(5):982-8	Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population		606518	17068	2	2005	 Our findings suggest that the genetic variants of the TIM-1 but not the TIM-3 gene contribute to asthma susceptibility in this African-American population.	Control:controls;Case African American asthmatic patients										
124921	N	atopic asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q33.3	HAVCR2	156445420	156468716	n	Noguchi F 2003	12618867				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3	Japanese	Japan	KEW	84868	Hs.616365			Genes and immunity. 2003 Mar;4(2):170-3			606652	6851	1	2003												
124922		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	5	5q33.3	HAVCR2	156445420	156468716		Chae, S. C.  et al. 2004	15325803				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3	Korean	Korea	CDC GDPinfo	84868	Hs.616365			Immunology letters. 2004 Aug;95(1):91-5	The polymorphisms of Th1 cell surface gene Tim-3 are associated in a Korean population with rheumatoid arthritis.		606652	11003	2	2004	These results strongly suggest that -574T>G and 4259G>T polymorphism of the Tim-3 might be associated with susceptibility to RA.	Case rheumatoid arthritis (RA) patients;Control controls without RA										
124917	Y	radiographically evident osteoarthritis	OTHER	OTH	Osteoarthritis	5	5q14.3	HAPLN1	82972499	83005169		Meulenbelt I et al. 1997	9336408				hyaluronan and proteoglycan link protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001884			KGB	1404	Hs.2799			Arthritis and rheumatism. 1997 Oct;40(10):1760-5	Investigation of the association of the CRTM and CRTL1 genes with radiographically evident osteoarthritis in subjects from the Rotterdam study.		115435	1417	1	1997	 These results suggest that the CRTM locus may play a role in the sex- and joint site-specific pattern of ROA development.											
124918	Y	macroglobulinemia	CANCER	CAN	Waldenstrom Macroglobulinemia|Genetic Predisposition to Disease	19	19q13.4	HAS1	56908176	56919033		Adamia, S.  et al. 2005	15794859				Hyaluronan synthase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001523.1			CDC GDPinfo	3036	Hs.57697			Clinical lymphoma. 2005 Mar;5(4):253-6	Potential impact of a single nucleotide polymorphism in the hyaluronan synthase 1 gene in Waldenstrom's macroglobulinemia.		601463	11002	2	2005	Based on the results obtained thus far, we speculate that individuals with HAS1 833G/G genotype are predisposed toward aberrant HAS1 splicing and expression of HAS1 variants, resulting in an enhanced risk of developing WM. Study of a larger group of patients and healthy donors is needed to confirm these speculations and to evaluate the prognostic significance of these findings.	Case patients with Waldenstrom's macroglobulinemia;Control healthy donors										
124919	N	atopic asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q33.2	HAVCR1	156389014	156418548	n	Noguchi F 2003	12618867	hHAVcr-1 allele			Hepatitis A virus cellular receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012206.1	Japanese	Japan	KEW	26762	Hs.129711			Genes and immunity. 2003 Mar;4(2):170-3			606518	6741	1	2003												
124913	Y	lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome|Multiple Sclerosis|Lupus Erythematosus, Systemic	19	19p13.3	HMHA1	1018173	1037627		Harangi, M.  et al. 2004	15593299				HMHA1 histocompatibility (minor) HA-1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC065223		Europe	CDC GDPinfo	23526	Hs.465521			European journal of immunology. 2005 Jan;35(1):305	Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome.		601155	21686	2	2004	Our results suggest that the HA-1 168His variant is associated with reduced susceptibility to primary Sjogren's syndrome.	Case patients with primary Sjogren's syndrome, systemic lupus erythematosus;Control ethnically matched controls										
124914		HELLP syndrome; acute fatty liver of pregnancy	OTHER	OTH	Fatty Liver|Pregnancy Complications|Fetal Diseases|HELLP Syndrome|Metabolism, Inborn Errors	2	2p23	HADHA	26267007	26321098		Yang, Z.  et al. 2002	12413376				Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000182.4			CDC GDPinfo	3030	Hs.516032			JAMA. 2002 Nov;288(17):2163-6	Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.		600890	17067	2	2002	 The association between AFLP and the E474Q mutation in the fetus is significant. Screening newborns for this mutation in pregnancies complicated by AFLP could allow early diagnosis and treatment in newborns and genetic counseling and prenatal diagnosis in subsequent pregnancies in affected families.	Cohort 108 consecutive blood samples from women who developed AFLP or HELLP syndrome, from their offspring, or from their partners 										
124915		schizophrenia	PSYCH	PSY		12	12q22-q24.1	HAL	94891272	94914202		Nobile M et al. 1997	9323322				Histidine ammonia-lyase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002108.2			KGB	3034	Hs.190783			Psychiatric genetics. 1997 ;7(3):107-9	Association study of schizophrenia and the histidase gene.		609457	3055	1	1997												
124910		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	12	12p12.2	GYS2	21580389	21649048		Watanabe, I.  et al. 2003	12732844				Glycogen synthase 2 (liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021957.2	Japanese	Japan	CDC GDPinfo	2998	Hs.82614			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138571	28499	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124911	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	1	1p36	H6PD	9217449	9253981		Millan, J. L.  et al. 2005	15827106	83557insA			Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004285.3			CDC GDPinfo	9563	Hs.463511			The Journal of clinical endocrinology and metabolism. 2005 Jul;90(7):4157-62	A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.		138090	11349	2	2005	 Digenic triallelic genotypes of the H6PD R453Q variant and HSD11B1 83557insA mutation do not always cause CRD. On the contrary, the H6PD R453Q variant is associated with PCOS and might influence its phenotype by influencing adrenal activity.	Case:116 polycystic ovary syndrome patients;Control:76 non-hyperandrogenic controls										
124912		body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones	METABOLIC	MET	Polycystic Ovary Syndrome	1	1p36	H6PD	9217449	9253981		White, P. C.   2005	16091483				Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004285.3		Texas	CDC GDPinfo	9563	Hs.463511			The Journal of clinical endocrinology and metabolism. 2005 Oct;90(10):5880-3	Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.		138090	17549	2	2005	 Previously reported associations of ACRD with HSD11B1 and H6PD alleles represent ascertainment bias. However, rare severe mutations in these genes cannot be ruled out.											
124907		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus	19	19q13.3	GYS1	54163193	54188361			11092303				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3		Japan	CDC GDPinfo	2997	Hs.386225			Diabetes care. 2000 Nov;23(11):1709-10	The Met416-->Val variant in the glycogen synthase gene: the prevalence and the association withdiabetes in a large number of Japanese individuals. Study Group for the Identification of Type 2 Diabetes Genes in Japanese.		138570	17064	2		These results suggest that the Met416?Val variant is not likely to be a single nucleotide polymorphism associated with susceptibility to type 2 diabestes. Moreover, this polymorphism does not affect the insulin sensitivity assessed by HOMA-IR in the present study, although the previous study showed the association between this variant and decreased insulin sensitivity evaluated by the minimal model analysis.	Case:1529 unrelated Japanese diabetic subjects;Control:901 unrelated controls with no past history of urinary sugar or glucose intolerance and having an HbA1c level <5.6%, and age of >60 years, and no family history of diabetes.										
124908		diabetes, type 2; hyperglycemia; uric acid	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia	19	19q13.3	GYS1	54163193	54188361		Wang, G.  et al. 2002	12411100				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Chinese		CDC GDPinfo	2997	Hs.386225			Chinese medical journal. 2002 Sep;115(9):1308-11	Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus.		138570	21685	2	2002	 In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose. It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level. The presence of the Arg64 allele in the beta(3)-AR gene may predispose patients to higher serum uric acid level.	Case:102 type 2 diabetes cases;Control:102 spousal controls										
124909		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	19	19q13.3	GYS1	54163193	54188361		Watanabe, I.  et al. 2003	12732844				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Japanese	Japan	CDC GDPinfo	2997	Hs.386225			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138570	28482	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124904	Y	insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.3	GYS1	54163193	54188361		Shimomura H et al. 1997	9267990				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Japanese	Japan	KGB	2997	Hs.386225			Diabetologia. 1997 Aug;40(8):947-52	A missense mutation of the muscle glycogen synthase gene (M416V) is associated with insulin resistance in the Japanese population.		138570	3054	1	1997												
124905		glycogen synthase protein in muscle	METABOLIC	MET		19	19q13.3	GYS1	54163193	54188361		St-Onge, J.  et al. 2001	11147787				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			CDC GDPinfo	2997	Hs.386225			Diabetes. 2001 Jan;50(1):195-8	The stimulation-induced increase in skeletal muscle glycogen synthase content is impaired in carriers of the glycogen synthase XbaI gene polymorphism.		138570	10998	2	2001	These data demonstrate that some individuals, because of their genetic background, are unable to stimulate the process of GS protein accumulation in skeletal muscle. These results could explain why some individuals appear to be genetically predisposed to developing skeletal muscle insulin resistance when exposed to unfavorable metabolic environments.	Cohort cohort of French-Canadian subjects 										
124906	N	diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.3	GYS1	54163193	54188361		Motoyama, K.  et al. 2003	12870167				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			CDC GDPinfo	2997	Hs.386225			Metabolism:  clinical and experimental. 2003 Jul;52(7):895-9	Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients.		138570	10999	2	2003	In conclusion, the M416V polymorphism of GYS1 gene is not associated with insulin resistance in type 2 diabetes.	Cohort 100 type 2 diabetic subjects 										
124900		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.3	GYS1	54163193	54188361		Nakayama T 1994	7983804				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Japanese	Japan	Y Wang	2997	Hs.386225			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2720-5	DNA polymorphism in the human glycogen synthase gene and non-insulin dependent diabetes mellitus in Japanese		138570	3050	1	1994												
124901		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.3	GYS1	54163193	54188361		Nakayama T1995	7796924				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Japanese		Y Wang	2997	Hs.386225			Nippon Naibunpi Gakkai zasshi. 1995 May;71(4):597-604	Microsatellite polymorphism of muscle glycogen synthase gene and non-insulin dependent diabetes mellitus		138570	3051	1	1995												
124902		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.3	GYS1	54163193	54188361		Kuroyama H 1994	7983805				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Japanese	Japan	Y Wang	2997	Hs.386225			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2726-30	Glycogen synthase gene-glycogen synthase gene in Japanese patients with NIDDM		138570	3052	1	1994												
124903		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Hyperinsulinism	19	19q13.3	GYS1	54163193	54188361		Hamada Y1995	8690180				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			Y Wang	2997	Hs.386225			Diabetologia. 1995 Oct;38(10):1249-50	The glycogen synthase gene in NIDDM and hypertension.		138570	3053	1	1995												
124896	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.3	GYS1	54163193	54188361		Motoyama K 2003	12870167				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			KGB	2997	Hs.386225			Metabolism:  clinical and experimental. 2003 Jul;52(7):895-9	Association of muscle glycogen synthase polymorphism with insulin resistance in type 2 diabetic patients.		138570	3046	1	2003	In conclusion, the M416V polymorphism of GYS1 gene is not associated with insulin resistance in type 2 diabetes.	Cohort 100 type 2 diabetic subjects										
124897		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.3	GYS1	54163193	54188361		Wang C 1998	11189236				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Chinese		Y Wang	2997	Hs.386225			Chinese medical journal. 1998 Oct;111(10):903-5	Polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus in Chinese population.		138570	3047	1	1998	 The results suggest that the Xbal polymorphism of the glycogen synthase gene could not be used as a genetic marker for NIDDM in Chinese population of Henan Han nationality.											
124898		diabetes, type 2	METABOLIC	MET	Albuminuria|Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	19	19q13.3	GYS1	54163193	54188361		Orho-Melander M 1999	10447527				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Finnish	Finland	Y Wang	2997	Hs.386225			Diabetologia. 1999 Sep;42(9):1138-45	A paired-sibling analysis of the XbaI polymorphism in the muscle glycogen synthase gene.		138570	3048	1	1999												
124899		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.3	GYS1	54163193	54188361		Majer M 1996	8721777				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3	Pima Indians	Arizona|Japan|Finland	Y Wang	2997	Hs.386225			Diabetologia. 1996 Mar;39(3):314-21	Association of the glycogen synthase locus on 19q13 with NIDDM in Pima Indians.		138570	3049	1	1996	We conclude that  our data do not indicate alterations in the GYS1 gene as the cause for the observed association, and that a different locus near GYS1 may be the contributing genetic element.											
124892		beta-glucuronidase	NORMALVARIATION	NV	Mucopolysaccharidosis VII	7	7q21.11	GUSB	65063107	65084681		Gratz, M.  et al. 2005	16272959				Glucuronidase, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000181.1			CDC GDPinfo	2990	Hs.255230			Pharmacogenetics and genomics. 2005 Dec;15(12):875-81	Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.		253220	17062	2	2005												
124893		malaria	INFECTION	INF	Malaria|Elliptocytosis, Hereditary|Genetic Predisposition to Disease|	2	2q14-q21	GYPC	127130153	127170716		Patel SS 2004	14695625				Glycophorin C (Gerbich blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002101.3		Papua New Guinea	KGB	2995	Hs.59138			American journal of hematology. 2004 Jan;75(1):5-Jan	Glycophorin C (Gerbich antigen blood group) and band 3 polymorphisms in two malaria holoendemic regions of Papua New Guinea.		110750	3043	1	2004												
124895	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia	19	19q13.3	GYS1	54163193	54188361		Wang G et al. 2002	12411100				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			KGB	2997	Hs.386225			Chinese medical journal. 2002 Sep;115(9):1308-11	Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus.		138570	3045	1	2002	 In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose. It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level. The presence of the Arg64 allele in the beta(3)-AR gene may predispose patients to higher serum uric acid level.	Case:102 type 2 diabetes cases;Control:102 spousal controls										
124889	Y	retinitis pigmentosa	VISION	VIS	Retinal Diseases	6	6p21.1	GUCA1B	42258999	42270672		Sato, M.  et al. 2004	15452722				Guanylate cyclase activator 1B (retina)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002098.3	Japanese		CDC GDPinfo	2979	Hs.446529			Graefes Arch Clin Exp Ophthalmol. 2005 Mar;243(3):235-42	Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.		602275	17060	2	2004	 A racial difference exists in the spectrum of mutations and/or polymorphisms in the GCAP 2 gene between British and Japanese populations. Our findings suggest that the mutation in the GCAP 2 gene can cause one form of autosomal dominant retinal dystrophy, with variable phenotypic expression and incomplete penetrance.	Cohort 63/33 unrelated patients with autosomal dominant retinitis pigmentosa (n=63) and patients with autosomal recessive retinitis pigmentosa (n=33) 										
124890	N	retinitis pigmentosa	OTHER	OTH		6	6p21.1	GUCA1B	42258999	42270672		Zhang, Q. J.  et al. 2002	15901556				Guanylate cyclase activator 1B (retina)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002098.3			CDC GDPinfo	2979	Hs.446529			Yi chuan. 2002 Jan;24(1):19-21	[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]		602275	21679	2	2002	We found no evidence that mutation in GUCA1B,GNGT1,or RGS9 gene is a cause of retinitis pigmentosa.	Cohort 120 probands with retinitis pigmentosa 										
124891	Y	cone degeneration	VISION	VIS	Retinal Degeneration	6	6p21.1	GUCA1B	42258999	42270672		Nishiguchi, K. M.  et al. 2004	15505030				Guanylate cyclase activator 1B (retina)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002098.3			CDC GDPinfo	2979	Hs.446529			Investigative ophthalmology & visual science. 2004 Nov;45(11):3863-70	A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration		602275	21680	2	2004	 A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. Properties of the GCAP1-I143NT mutant protein suggested that it is incompletely inactivated by high Ca2+ concentrations as should occur with dark adaptation. The continued activity of the mutant GCAP1 likely results in higher-than-normal scotopic cGMP levels which may, in turn, account for the progressive loss of cones.	Cohort 216/421 autosomal dominant cone degeneration patients, screened for GCAP1 (n=216) and GCAP2 (n=421) genes 										
124886		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q24.3	GSTZ1	76857106	76867693		Deng, Y.  et al. 2004	15288444				Glutathione transferase zeta 1 (maleylacetoacetate isomerase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145870.1			CDC GDPinfo	2954	Hs.26403			Neuroscience letters. 2004 Aug;366(3):326-31	Case-only study of interactions between genetic polymorphisms of GSTM1, P1, T1 and Z1 and smoking in Parkinson's disease.		603758	26109	2	2004	These data suggest that one or more GSTP1 polymorphisms may interact with cigarette smoking to influence the risk for PD.	Cohort 400 Parkinson's disease cases Cohort 402 healthy, aged individuals with smoking exposure information 	smoking (tobacco)									
124887		solar keratosis	OTHER	OTH	Keratosis|Genetic Predisposition to Disease	14	14q24.3	GSTZ1	76857106	76867693		Carless, M. A.  et al. 2002	12485442				Glutathione transferase zeta 1 (maleylacetoacetate isomerase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145870.1	Australian	Australia	CDC GDPinfo	2954	Hs.26403			The Journal of investigative dermatology. 2002 Dec;119(6):1373-8	The GSTM1 null genotype confers an increased risk for solar keratosis development in an Australian Caucasian population.		603758	26110	2	2002	Overall, glutathione-S-transferase M1 conferred a significant increase in risk of solar keratoses development, particularly in the presence of high outdoor exposure and synergistically with known phenotypic risk factors of fair skin and inability to tan.	Cohort volunteers involved in the Nambour Skin Cancer Prevention Trial Australia 	solar injury									
124888	Y	cone degeneration	VISION	VIS	Retinal Degeneration	6	6p21.1	GUCA1A	42231151	42255772		Nishiguchi, K. M.  et al. 2004	15505030				Guanylate cyclase activator 1A (retina)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000409.2			CDC GDPinfo	2978	Hs.92858			Investigative ophthalmology & visual science. 2004 Nov;45(11):3863-70	A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration		600364	17061	2	2004	 A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. Properties of the GCAP1-I143NT mutant protein suggested that it is incompletely inactivated by high Ca2+ concentrations as should occur with dark adaptation. The continued activity of the mutant GCAP1 likely results in higher-than-normal scotopic cGMP levels which may, in turn, account for the progressive loss of cones.	Cohort 216/421 autosomal dominant cone degeneration patients, screened for GCAP1 (n=216) and GCAP2 (n=421) genes 										
124883		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	22	22q11.2	GSTT2	22629608	22633383		Liu, Y.  et al. 2005	15654505				Glutathione S-transferase theta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013992	Japanese	Japan	CDC GDPinfo	2953	Hs.1581			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		600437	28053	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
124884		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q11.2	GSTT2	22629608	22633383		Landi, S.  et al. 2005	16006997				Glutathione S-transferase theta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013992			CDC GDPinfo	2953	Hs.1581			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		600437	28481	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124885	N	breast cancer	CANCER	CAN	Breast Neoplasms	14	14q24.3	GSTZ1	76857106	76867693		Smith, R. A.  et al. 2001	11737895				Glutathione transferase zeta 1 (maleylacetoacetate isomerase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145870.1			CDC GDPinfo	2954	Hs.26403			Breast cancer research. 2001 ;3(6):409-11	Investigation of glutathione S-transferase zeta and the development of sporadic breast cancer		603758	17058	2	2001	 Statistical analysis indicates that there is no association of the GSTZ1 variant and hence the gene does not appear to play a significant role in the development of sporadic breast cancer.	Case breast cancer cases;Control control population, matched for age and ethnicity										
124880		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sachse, C.  et al. 2002	12419832				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		England	CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		600436	28224	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
124881		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Kiyohara, C.  et al. 2002	12234692				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		600436	28287	2	2002	Review article		smoking (tobacco)									
124882		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	22	22q11.23	GSTT1	22706140	22714231		Watanabe, I.  et al. 2003	12732844				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese	Japan	CDC GDPinfo	2952	Hs.268573			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		600436	28463	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124877		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Xing, D.  et al. 2003	12883749				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Chinese	China	CDC GDPinfo	2952	Hs.268573			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		600436	27922	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
124878		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	22	22q11.23	GSTT1	22706140	22714231		Krajinovic, M.  et al. 2002	11895912				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		600436	27923	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
124879		cytogenetic studies	OTHER	OTH	DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Naccarati, A.  et al. 2005	16043197				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		600436	27924	2	2005												
124873		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Matthias, C.  et al. 2003	12548461				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		600436	27733	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
124874		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sepehr, A.  et al. 2004	15327835				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	2952	Hs.268573			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		600436	27919	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
124876		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		De Jong, M. M.  et al. 2002	12433710				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		600436	27921	2	2002	Review article											
124870		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Wang, X.  et al. 2001	11520401				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		China	CDC GDPinfo	2952	Hs.268573			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		600436	27730	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
124871		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Garte, S.  et al. 2001	11751440				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		600436	27731	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
124872		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	22	22q11.23	GSTT1	22706140	22714231		Matthias, C.  et al. 2002	12063626				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		600436	27732	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
124867	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Liang, G. Y.  et al. 2004	15640066				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Chinese	China	CDC GDPinfo	2952	Hs.268573			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		600436	27451	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
124868		styrene toxicity	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Ma, M.  et al. 2005	16125881				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		600436	27452	2	2005			smoking (tobacco)									
124869		prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Figer, A.  et al. 2003	14719475				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		600436	27453	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
124864		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Leng, S. G.  et al. 2004	15355699				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		600436	27448	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
124865		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Leng, S. G.  et al. 2004	15061915				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		600436	27449	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
124866		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Soucek, P.  et al. 2002	12397416				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		600436	27450	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
124861		DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	22	22q11.23	GSTT1	22706140	22714231		Vodicka, P.  et al. 2001	11535253				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		600436	27445	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
124862	Y	bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	22	22q11.23	GSTT1	22706140	22714231		Korytina, G. F.  et al. 2005	15928955				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		600436	27446	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
124863		emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Budhi, A.  et al. 2003	12579334				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese	Japan	CDC GDPinfo	2952	Hs.268573			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		600436	27447	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
124857		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	22	22q11.23	GSTT1	22706140	22714231		de Leon, J.  et al. 2005	16160620				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		600436	27441	2	2005												
124858		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	22	22q11.23	GSTT1	22706140	22714231			16393248				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		600436	27442	2	2006			alcohol smoking (tobacco)									
124860		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sarmanova, J.  et al. 2001	11406608				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		600436	27444	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
124854		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		To-Figueras, J.  et al. 2002	12359356				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer letters. 2002 Dec;187(2-Jan):95-101	Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk.		600436	26926	2	2002	These results on larynx cancer tend to confirm a former study on lung cancer (Cancer Lett. 173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers.	Control:203 healthy controls;Case:204 patients with larynx cancer										
124855		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Skuladottir, H.  et al. 2005	15829318				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Denmark|Norway	CDC GDPinfo	2952	Hs.268573			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		600436	26927	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
124856		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Brind, A. M.  et al. 2004	15525789				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Nov-Dec;39(6):478-83	The role of polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and A1 in susceptibility to alcoholic liver disease.		600436	26928	2	2004	 We have failed to demonstrate within the limitation of a case-control study a reproducible significant association of GST polymorphisms with susceptibility to ALD but there are suggestions that GSTA1 and GSTT1 warrant further study.	Control normal local controls;Case alcohol-related chronic liver disease patients North Staffordshire, Birmingham and Liverpool										
124851		exposure to 1,3-butadiene	PHARMACOGENOMIC	PHARM		22	22q11.23	GSTT1	22706140	22714231		Fustinoni, S.  et al. 2002	12376511				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1082-90	Influence of metabolic genotypes on biomarkers of exposure to 1,3-butadiene in humans.		600436	26923	2	2002	Our results indicate that the THBVal level is influenced by genotypes, and that the analysis of combined polymorphisms may be the key to a better understanding of the role played by polymorphism of BD-metabolizing enzymes.	Control:10:clerks;Case:30 Italian 1,3-butadiene-exposed workers										
124852		styrene toxicity	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Teixeira, J. P.  et al. 2004	14751678				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Toxicology. 2004 Feb;195(3-Feb):231-42	Occupational exposure to styrene: modulation ofcytogenetic damage and levels of urinary metabolites of styrene by polymorphisms in genes CYP2E1, EPHX1, GSTM1, GSTT1 and GSTP1.		600436	26924	2	2004	The present data seem to suggest that apart from the methodology usually used for monitoring populations occupationally exposed to styrene (urinary metabolites and biomarkers of early biological effects) the analysis of individual genotypes associated with the metabolic fate of styrene should also be carried out in order to evaluate the individual genetic susceptibility of exposed populations.	Control:28 control subjects;Case:28 reinforced plastic workers										
124853		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	22	22q11.23	GSTT1	22706140	22714231		Stoehlmacher, J.  et al. 2004	15213713				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		600436	26925	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
124848		cytogenetic studies	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Lodovici, M.  et al. 2004	15298956				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1342-8	Benzo(a)pyrene Diolepoxide (BPDE)-DNA Adduct Levels in Leukocytes of Smokers in Relation to Polymorphism of CYP1A1, GSTM1, GSTP1, GSTT1, and mEH		600436	26920	2	2004	In conclusion, CYP1A1, GSTM1, and GSTP1 genotyping seems to be a risk predictor of BPDE-DNA adduct formation in leukocytes.	Cohort 41 healthy smokers 	smoking (tobacco)									
124849		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Tuominen, R.  et al. 2002	11967624				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		600436	26921	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
124850		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Turner, F.  et al. 2004	15352038				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Great Britain	CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		600436	26922	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
124845		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		De Jong, D. J.  et al. 2003	12631667				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomalepoxide hydrolase.		600436	26917	2	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
124846	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Casson, A. G.  et al. 2003	12670526				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer detection and prevention. 2003 ;27(2):139-46	Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma.		600436	26918	2	2003	We conclude that  polymorphisms of GSTP1 and mEH may be implicated in individual susceptibility to esophageal adenocarcinoma, possibly as a result of increased Phase I activation (mEH) and impaired Phase II detoxification (GSTP1). GSTT1 may also play a role in esophageal tumorigenesis through a pathway that involves abnormalities in the p53 tumor suppressor gene.	Case:45 patients with surgically resected esophageal:adenocarcinomas;Control:45 healthy controls from the same geographic region matched for age, gender and smoking history										
124847		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Wang, L. D.  et al. 2003	12854128				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		China	CDC GDPinfo	2952	Hs.268573			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study ofpopulation from a high- incidence area in north China.		600436	26919	2	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124842		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	22	22q11.23	GSTT1	22706140	22714231		You, W. C.  et al. 2005	15734972				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Chinese		CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		600436	26914	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)									
124843	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Nam, R. K.  et al. 2003	14693733				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		600436	26915	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
124844		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sandford, A. J.  et al. 2002	12149538				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		600436	26916	2	2002	Review article		smoking (tobacco)									
124839		intrauterine growth	REPRODUCTION	REP		22	22q11.23	GSTT1	22706140	22714231		Yamada, H.  et al. 2004	14665706				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Molecular human reproduction. 2004 Jan;10(1):49-53	A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.		600436	26911	2	2004	The polymorphism of CYP17 that encodes the cytochrome P450c17alpha enzyme might be associated with the pathophysiology underlying fetal growth restriction.	Cohort 134 women who experienced singleton deliveries beyond 24 weeks gestation 										
124840		sex hormones	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ko, Y.  et al. 2001	11389067				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		600436	26912	2	2001	The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.	Case smoking cases;Control smoking controls	smoking (tobacco)									
124841		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Krajinovic, M.  et al. 2001	11291049				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Canadian	Canada|France	CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		600436	26913	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
124835		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Pakakasama, S.  et al. 2005	15981231				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Thailand	CDC GDPinfo	2952	Hs.268573			American journal of hematology. 2005 Jul;79(3):202-5	Polymorphisms of drug-metabolizing enzymes and risk of childhood acute lymphoblastic leukemia.		600436	26907	2	2005												
124837		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	22	22q11.23	GSTT1	22706140	22714231		Ishikawa, K.  et al. 2005	15838728				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		600436	26909	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
124838	Y	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Dialyna, I. A.  et al. 2001	11408954				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			International journal of molecular medicine. 2001 Jul;8(1):79-87	Genetic polymorphisms and transcriptional pattern analysis of CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes in breast cancer.		600436	26910	2	2001	Genotyping analysis did not show any correlation to breast cancer risk. However, RT-PCR analysis provided evidence that CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes are frequently deregulated in breast cancer and could be used as molecular biomarkers for better clinical management of such patients, with respect to chemotherapy.	Control:171 age and sex matched controls;Case:207 female breast cancer patients										
124831		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Garcia-Closas, M.  et al. 2005	16112301				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		600436	26108	2	2005			smoking (tobacco)									
124832		Parkinson's disease	NEUROLOGICAL	NEUR		22	22q11.23	GSTT1	22706140	22714231		Nishio, K.  et al. 2004	15279067				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		600436	26904	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
124834		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Murata, M.  et al. 2001	11275366				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese	Japan	CDC GDPinfo	2952	Hs.268573			Cancer letters. 2001 Apr;165(2):171-7	Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, CYP2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population		600436	26906	2	2001	This study suggests that the CYP1A1 polymorphism and its combination with GSTM1 may be associated with PCa susceptibility in the Japanese population.	Case not specified in abstract;Control not specified in abstract										
124827		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Juronen, E.  et al. 2000	11040079				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Experimental eye research. 2000 Nov;71(5):447-52	Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.		600436	26104	2	2000	The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.	Control:202:controls;Case:250 glaucoma patients:Estonia										
124828	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Lan, Q.  et al. 2001	11692073				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Polish	Poland	CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2001 Nov;11(8):655-61	Glutathione S-transferase genotypes and stomach cancer in a population-based case-control study in Warsaw, Poland		600436	26105	2	2001	These results suggest that the GSTT1 null genotype may be associated with increased risk of stomach cancer.	Case:304 stomach cancer patients:Warsaw, Poland;Control:427 control subjects not otherwise specified										
124829		oral cancer; leukoplakia	CANCER	CAN	Mouth Neoplasms|Leukoplakia	22	22q11.23	GSTT1	22706140	22714231		Sikdar, N.  et al. 2004	14735473				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Indian	India	CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2004 Mar;109(1):95-101	Glutathione S-transferase M3 (A/A) genotype as a risk factor for oral cancer and leukoplakia among Indian tobacco smokers		600436	26106	2	2004	It may be suggested that polymorphisms in GSTP1, GSTM1, GSTM3 and GSTT1 genes regulate risk of cancer and leukoplakia differentially among different tobacco habituals.	Case:109/256 leukoplakia (n=109) and oral cancer (n=256):patients;Control:259:controls	smoking (tobacco)									
124824		lung cancer; hamartomas	CANCER	CAN	Hamartoma|Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Diseases|Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Risch, A.  et al. 2001	11740339				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2001 Dec;11(9):757-64	Glutathione-S-transferase M1, M3, T1 and P1 polymorphisms and susceptibility to non-small-cell lung cancer subtypes and hamartomas.		600436	26101	2	2001	In conclusion, GST genotypes may act differently, either by detoxifying harmful tobacco carcinogens and/or by eliminating lung cancer chemopreventive agents. The latter role for GSTT1 would explain the observed lower risk of SCC and hamartoma associated with GSTT1 null. Further confirmatory studies are required.	Control:353 hospital control subjects;Case:389 Caucasian lung cancer patients (151 adenocarcinomas and 172 squamous cell carcinomas)										
124825		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	22	22q11.23	GSTT1	22706140	22714231		Flamant, C.  et al. 2004	15115915				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2004 May;14(5):295-301	Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.		600436	26102	2	2004	 These data provide the first evidence suggesting that polymorphism of the GSTM3 gene contributes to clinical severity in CF, which may have prognostic significance and could prompt to start a more targeted therapy in young patients with CF.	Cohort 146 children with cystic fibrosis 										
124826		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Fryer, A. A.  et al. 2004	15459020				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Australian	Australia	CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2005 Jan;26(1):185-91	Polymorphisms in glutathione S-transferases and non-melanoma skin cancer risk in Australian renal transplant recipients.		600436	26103	2	2004	These data confirm our UK findings, suggesting that protection against UVR-induced oxidative stress is important in NMSC development in recipients, but that this effect depends on immunosuppressant regimen.	Cohort 361 Queensland renal transplant recipients Queensland, Australia 										
124821		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Van Der Logt, E. M.  et al. 2004	15319294				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		600436	26098	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
124822		ototoxicity	OTHER	OTH	Osteosarcoma|Hearing Loss, Functional	22	22q11.23	GSTT1	22706140	22714231		Peters, U.  et al. 2000	11081456				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Anti-cancer drugs. 2000 Sep;11(8):639-43	Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin		600436	26099	2	2000	a protective effect was found for the GSTM3*B allele with a frequency of 0.18 in the group with normal hearing after therapy versus 0.025 in the group with hearing impairment. (chi2=5.37; p=0.02).	Control:19 patients with no hearing impairment under comparable doses of the drug;Case:20 patients early and highly sensitive to the ototoxicity of cisplatin	cisplatin									
124823	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Mitrunen, K.  et al. 2001	11303592				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Finland	CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):229-36	Glutathione S-transferase M1, M3, P1, and T1 genetic polymorphisms and susceptibility to breast cancer.		600436	26100	2	2001	Our findings support the view that GST genotypes contribute to the individual breast cancer risk, especially in certain combinations.	Control:482 healthy population controls;Case:483 incident breast cancer cases										
124818		DNA damage	OTHER	OTH	DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Buschini, A.  et al. 2003	12717779				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Environmental and molecular mutagenesis. 2003 ;41(4):243-52	Genetic polymorphism of drug-metabolizing enzymes and styrene-induced DNA damage.		600436	26095	2	2003	The field survey confirms that styrene exposure is associated with increased DNA damage and indicates a modulating role for GSTM1 and GSTT1 genotypes. In vitro experiments suggest that the extent of SO-induced DNA strand breaks depends, at least in part, on interindividual differences in GSH-conjugation capabilities.	Control:14 unexposed healthy controls;Case:48 worders exposed to styrene	styrene									
124819	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Yang, P.  et al. 2004	15192016				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2004 Oct;25(10):1935-44	Glutathione pathway genes and lung cancer risk in young and old populations.		600436	26096	2	2004	Results from logistic regression analyses supported the results from RPART models. GSH pathway genes are associated with lung cancer development in young and old populations through differing interactions with cigarette smoking and family history. Carefully evaluating multiple levels of gene-environment and gene-gene interactions is critical in assessing lung cancer risk.	Control:234 controls (165 young, 69 old) consecutively enrolled at the Mayo Clinic;Case:237 primary lung cancer patients (170 young, 67 old) consecutively enrolled at the Mayo Clinic:US:1997-2001	smoking (tobacco)									
124820	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Komiya, Y.  et al. 2004	15616829				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese		CDC GDPinfo	2952	Hs.268573			Journal of cancer research and clinical oncology. 2005 Apr;131(4):238-42	Human glutathione S-transferase A1, T1, M1, and P1 polymorphisms and susceptibility to prostate cancer in the Japanese population		600436	26097	2	2004	 These findings suggest that the GSTA1 and GSTT1 polymorphisms are associated with prostate cancer susceptibility, especially among smokers.	Case:190 Japanese male patients with prostate cancer;Control:294 healthy controls, frequency-matched for age	smoking (tobacco)									
124815		sulphamethoxazole hypersensitivity	PHARMACOGENOMIC	PHARM	HIV Seropositivity|Hypersensitivity	22	22q11.23	GSTT1	22706140	22714231		Pirmohamed, M.  et al. 2000	11186133				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2000 Nov;10(8):705-13	Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity		600436	26092	2	2000	Our results show that genetic polymorphisms in drug metabolizing enzymes are unlikely to be major predisposing factors in determining individual susceptibility to co-trimoxazole hypersensitivity in HIV-positive patients.	Case:56 HIV-positive patients with SMX hypersensitivity;Control:89 HIV-positive patients without SMX hypersensitivity	co-trimoxazole									
124816		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	22	22q11.23	GSTT1	22706140	22714231		Chernajovsky, Y.  et al. 2002	12421093				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		600436	26093	2	2002	Review article											
124817		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	22	22q11.23	GSTT1	22706140	22714231		Dufour, C.  et al. 2005	16079101				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian		CDC GDPinfo	2952	Hs.268573			Haematologica. 2005 Aug;90(8):1027-31	Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients.		600436	26094	2	2005	 The low/null activity polymorphisms of the detoxifying enzymes CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 are not associated with the risk of developing aplastic anemia or to the response to immunosuppressive therapy in Caucasian patients.											
124812		DNA adducts	OTHER	OTH	Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Brockstedt, U.  et al. 2002	11943609				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		600436	26089	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 										
124813		longevity	AGING	AGE	Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Pesch, B.  et al. 2004	15177664				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Germany	CDC GDPinfo	2952	Hs.268573			Toxicology letters. 2004 Jun;151(1):283-90	Polymorphic metabolic susceptibility genes and longevity: a study in octogonarians.		600436	26090	2	2004	Polymorphic metabolic susceptibility genes could become relevant for processes of aging when toxic defense mechanisms decline.	Case:205:octogenarians;Control:294 non-cancer persons aged less than 80 years										
124814	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Hung, R. J.  et al. 2004	15122594				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		600436	26091	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)									
124808	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease	22	22q11.23	GSTT1	22706140	22714231		Rahman, S. H.  et al. 2004	15131792				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Gastroenterology. 2004 May;126(5):1312-22	Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis		600436	26085	2	2004	 The functional GSTT-1*A genotype was associated with severe attacks of pancreatitis. Heightened oxidative stress characterized by glutathione depletion may be of importance in mediating the progression from mild to severe pancreatitis.	Control:263:controls;Case:320 patients with acute pancreatitis										
124809		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	22	22q11.23	GSTT1	22706140	22714231		Rahman, S. H.  et al. 2005	16047490				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Digestive diseases and sciences. 2005 Jul;50(7):1376-83	Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress andimpaired antioxidant capacity.		600436	26086	2	2005	We conclude that  the GSTT-1 functional genotype is associated with ICP. Evidence of altered glutathione redox status suggests that this disease modification may be a consequence of oxidative stress or the bioactivation of xenobiotics.											
124810		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Ceschi, M.  et al. 2005	15845652				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Chinese	Singapore|China	CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2005 Aug;26(8):1457-64	The effect of cyclin D1 (CCND1) G870A-polymorphism on breast cancer risk is modified by oxidative stress among Chinese women in Singapore.		600436	26087	2	2005	The AA genotype did not affect breast cancer risk. The results of this study are compatible with the hypothesis that the oxidant-antioxidant balance in cells is an important determinant of the direction of the cyclin D1 effect, leading either to cell proliferation or cell death.	Case:258 breast cancer cases nested into the Singapore Chinese Health Study;Control:670 female cohort controls nested into the Singapore Chinese Health Study										
124805		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Haque, A. K.  et al. 2004	15536330				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Applied immunohistochemistry & molecular morphology. 2004 Dec;12(4):315-22	CYP2E1 polymorphism, cigarette smoking, p53 expression, and survival in non-small cell lung cancer: a long term follow-up study.		600436	26082	2	2004	No association was found between survival and tumor type; tumor differentiation; expression of phospho-AKT, p27, and bcl-2; and polymorphic metabolizing genes other than CYP2E1. The significant association of long duration of smoking (>40 years) with loss of p53 expression and poor survival suggests inactivation of the protective p53 pathway in those who had a history of more than 40 years of smoking.	Cohort 87 lung cancer patients 	smoking (tobacco)									
124806		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	22	22q11.23	GSTT1	22706140	22714231		Harms, C.  et al. 2004	15199549				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		600436	26083	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
124807	N	diabetic neuropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	22	22q11.23	GSTT1	22706140	22714231			15125229				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Molekuliarnaia biologiia. 2004 Mar-Apr;38(2):244-9	[Search for the association of polymorphic markers for genes coding for antioxidant defense enzymes, with development of diabetic polyneuropathies in patients with type 1 diabetes mellitus]		600436	26084	2	2004	On this evidence, these markers were not associated with DPN in the sample examined.	Case:86 patients with type 1 diabetes with polyneuropathy and diabetic record no more than 5 years;Control:94 diabetic patients without polyneuropathy and diabetic record of at least 10 years										
124802		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Demichele, A.  et al. 2005	16110016				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of clinical oncology. 2005 Aug;23(24):5552-9	Drug-metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohort.		600436	26079	2	2005	 Combined genotypes at CYP3A4, CYP3A5, GSTM1, and GSTT1 influence the probability of treatment failure after high-dose adjuvant chemotherapy for node-positive breast cancer.		anthracycline chemotherapy									
124803		1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Kuljukka-Rabb, T.  et al. 2002	11859435				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of exposure analysis and environmental epidemiology. 2002 Jan-Feb;12(1):81-91	The effect of relevant genotypes on PAH exposure-related biomarkers.		600436	26080	2	2002	Our study shows that a comprehensive assessment of exposure is essential for elucidation of PAH exposure at a workplace. Even at high exposures metabolic polymorphisms seem to have some effect on biomarker levels, and should be assessed in biomonitoring studies	Cohort coke oven workers ;Control controls not specified	smoking (tobacco)									
124804		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic|DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Dirksen, U.  et al. 2003	14681495				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pediatric research. 2004 Mar;55(3):466-71	Glutathione S transferase theta 1 gene (GSTT1) null genotype is associated with an increased risk for acquired aplastic anemia in children.		600436	26081	2	2003	In no combinations of the mentioned parameters was an association found with acquired aplastic anemia. GST are mainly involved in metabolizing hematotoxic and mutagenic substrates such as benzene derivatives. The GSTT1 null genotype may modulate the metabolism of exogenous pollutants or toxic intermediates. The absence of the GSTT1 enzyme, leading to genetic susceptibility toward certain pollutants, might determine the individual risk for development of acquired aplastic anemia in children.	Control:controls;Case individuals with acquired aplastic anemia										
124799	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Sanyal, S.  et al. 2003	14688016				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		600436	26076	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
124800		leukemia/lymphoma, T-Cell	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Tsukasaki, K.  et al. 2001	11325850				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		600436	26077	2	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
124801		manganism, susceptibility to occupational chronic	OTHER	OTH	Central Nervous System Diseases|Manganese Poisoning|Occupational Diseases	22	22q11.23	GSTT1	22706140	22714231		Zheng, Y. X.  et al. 2002	12171760				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Biomarkers. 2002 Jul-Aug;7(4):337-46	Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.		600436	26078	2	2002	The results suggest that CYP2D6L gene polymorphism might influence susceptibility to manganese-induced neurotoxicity. However, because of limited sample size, our results should be validated in large-scale studies.	Case:49 patients with chronic manganism;Control:50 unrelated healthy controls who were welders and ferromanganese smelters and occupationally exposed to manganese dust and fume in the same workshops from three metallurgical industries										
124796		lung function	OTHER	OTH	Lung Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		He, J. Q.  et al. 2002	12153964				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			American journal of respiratory and critical care medicine. 2002 Aug;166(3):323-8	Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers.		600436	24575	2	2002	None of the genotypes studied had a statistically significant effect on decline of lung function when analyzed separately. There was an association between rapid decline of lung function and presence of all three GST polymorphisms (odds ratio [OR] = 2.83; p = 0.03). A combination of a family history of chronic obstructive pulmonary disease with GSTP1 105Ile/Ile genotype was also associated with rapid decline of lung function (OR = 2.20; p = 0.01). However, due to the multiple comparisons that were made, these associations may represent type 1 error. There was no association between HMOX1 (GT)n alleles and the rate of decline in lung function in smokers.	Case:299 rapid decliners [change in forced expiratory volume in 1 second (DeltaFEV(1)) = -152 +/- 2.5 ml/year] selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study;Control:322 nondecliners [DeltaFEV(1) = +15 +/- 1.5 ml/year]) selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study	family history									
124797	N	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	22	22q11.23	GSTT1	22706140	22714231		Chiu, B. C.  et al. 2005	15725081				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			British journal of haematology. 2005 Mar;128(5):610-5	Association of NAT and GST polymorphisms with non-Hodgkin's lymphoma: a population-basedcase-control study.		600436	24576	2	2005	In summary, although NAT1, NAT2, GSTM1, GSTT1, or GSTP1 polymorphisms do not appear to be associated with NHL risk overall, there might be gender-specific and subtype-specific associations that require confirmation.	Case:389 non-Hodgkin's lymphoma cases;Control:535 population-based controls										
124798	Y	lung cancer	CANCER	CAN	Lung Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Sorensen, M.  et al. 2004	15069685				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2004 Jun;110(2):219-24	Glutathione S-transferase T1 null-genotype is associated with an increased risk of lung cancer.		600436	24577	2	2004	These results suggest that the GSTT1 null-genotype is associated with an increased risk of lung cancer, especially in younger individuals.	Case lung cancer cases:Cohort population based cohort subjects matched on duration of smoking										
124793		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Zubowska, M.  et al. 2004	15738600				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Medycyna wieku rozwojowego. 2004 Apr-Jun;8(2 Pt 1):245-57	[Increased frequency of A-G transition at exon 5 of GSTP1 as a genetic risk factor for acute childhood leukaemia]		600436	24572	2	2004	 transition in exon 5 of GSTP1 gene (alone or combined with GSTM1 deletion) may be one of the molecular predictors of higher susceptibility to acute leukaemia in children. but not of the clinical course of this disease.	Control:460 healthy controls;Case:86 children with newly diagnosed acute leukaemia										
124794		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.23	GSTT1	22706140	22714231		Deng, Y.  et al. 2004	15288444				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Neuroscience letters. 2004 Aug;366(3):326-31	Case-only study of interactions between genetic polymorphisms of GSTM1, P1, T1 and Z1 and smoking in Parkinson's disease.		600436	24573	2	2004	These data suggest that one or more GSTP1 polymorphisms may interact with cigarette smoking to influence the risk for PD.	Cohort 400 Parkinson's disease cases Cohort 402 healthy, aged individuals with smoking exposure information 	smoking (tobacco)									
124795		solar keratosis	OTHER	OTH	Keratosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Carless, M. A.  et al. 2002	12485442				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Australian	Australia	CDC GDPinfo	2952	Hs.268573			The Journal of investigative dermatology. 2002 Dec;119(6):1373-8	The GSTM1 null genotype confers an increased risk for solar keratosis development in an Australian Caucasian population.		600436	24574	2	2002	Overall, glutathione-S-transferase M1 conferred a significant increase in risk of solar keratoses development, particularly in the presence of high outdoor exposure and synergistically with known phenotypic risk factors of fair skin and inability to tan.	Cohort volunteers involved in the Nambour Skin Cancer Prevention Trial Australia 	solar injury									
124790	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Schneider, A.  et al. 2004	15338373				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of gastroenterology. 2004 Aug;39(8):783-7	Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis		600436	24569	2	2004	 We conclude that genetic alterations in the MGST1, GSTM3, GSTT1, and GSTM1 genes do not play a dominant role in hereditary pancreatitis.	Control:183:controls;Case:30 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations to analyzie the entire coding region of MGST1 and GSTM3;Control:55:controls;Case:75/135 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations (n=75) and patients with a PRSS1 mutation (n=135) to analyzie the entire coding region of GSTT1 and GSTM1										
124791		head and neck cancer; benzene toxicity	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Xu, Q.  et al. 2005	15952134				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Korean		CDC GDPinfo	2952	Hs.268573			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):347-9	[Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, GSTT1, and GSTP1 in Korean]		600436	24570	2	2005	 The genetic distribution of the genes in Korean is similar to the distribution of those in Chinese; more than half of the Korean in the study sample lack GSTM1 and GSTT1; the frequency for GSTM1 and GSTT1 null type of Korean is 3 times that of Indian.											
124792	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Nazar-Stewart, V.  et al. 2003	12781423				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Washington	CDC GDPinfo	2952	Hs.268573			Lung cancer (Amsterdam, Netherlands). 2003 Jun;40(3):247-58	A population-based study of glutathione S-transferase M1, T1 and P1 genotypes and risk for lung cancer.		600436	24571	2	2003	These results support previous reports that the GSTM1 null genotype is associated with a modest increase in risk for lung cancer, particularly among heavy smokers, suggest no role for GSTT1 and the need for further study of GSTP1.	Case:274 males identified from 1993 to 1996 through the Fred Hutchinson Cancer Research Center Cancer Surveillance System registry western Washington State;Control:501 male age-matched controls selected by random-digit:dialing	smoking (tobacco)									
124787		liver cancer	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Kirk, G. D.  et al. 2005	15734960				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Gambia	CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):373-9	Hepatocellular carcinoma and polymorphisms in carcinogen-metabolizing and DNA repair enzymes in a population with aflatoxin exposure and hepatitis B virus endemicity.		600436	24566	2	2005	Our findings suggest that genetic modulation of carcinogen metabolism and DNA repair can alter susceptibility to HCC and that these effects may be modified by environmental factors.	Case:216 hepatocellular cancer cases Gambia, West Africa;Control:408 frequency-matched controls with no clinically apparent liver disease	peanuts									
124788		oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Buch, S. C.  et al. 2002	12016153				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Indian	India	CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2002 May;23(5):803-7	Polymorphism at GSTM1, GSTM3 and GSTT1 gene loci and susceptibility to oral cancer in an Indian population.		600436	24567	2	2002	The results suggest that the GSTM1 null genotype is a risk factor for development of oral cancer among Indian tobacco habitues.	Case:297 oral cancer patients;Control:450 healthy controls										
124789		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Medeiros, R.  et al. 2004	14968442				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Europe|Portugal	CDC GDPinfo	2952	Hs.268573			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: The role ofglutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms		600436	24568	2	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124784	Y	benzene toxicity	METABOLIC	MET	Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Wan, J.  et al. 2002	12460800				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Environmental health perspectives. 2002 Dec;110(12):1213-8	Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.		600436	24563	2	2002	Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.	Control:152 workers occupationally exposed to benzene;Case:156 benezene-poisoning patients South China	alcohol smoking (tobacco)									
124785		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Salama, S. A.  et al. 2002	12355548				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Environmental and molecular mutagenesis. 2002 ;40(3):153-60	Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers.		600436	24564	2	2002	Since the analysis of genetic susceptibility factors is still in its infancy, our study may stimulate additional investigations to understand the roles of genetic susceptibility and cigarette smoking in AR.	Case:120 atherosclerosis patients;Control:90 matched controls	smoking (tobacco)									
124786		leukemia; leukemia, myelodysplastic (TRLIMDS)	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	22	22q11.23	GSTT1	22706140	22714231		Naoe T  et al. 2000	11051261				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese	Japan	CDC GDPinfo	2952	Hs.268573			Clinical cancer research. 2000 Oct;6(10):4091-5	Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia.		600436	24565	2	2000	the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS.	Control:150/411 150 controls (unspecified) and 411 patients with de novo acute myeloid leukemia (AML);Case:58 patients with TRL/MDS										
124781		psoriasis	IMMUNE	IMM	Psoriasis	22	22q11.23	GSTT1	22706140	22714231		Richter-Hintz, D.  et al. 2003	12713578				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			The Journal of investigative dermatology. 2003 May;120(5):765-70	Allelic variants of drug metabolizing enzymes as risk factors in psoriasis.		600436	24560	2	2003	This is the first large-scale study on these enzymes and the results obtained support the concept that different activities of metabolizing enzymes can contribute to disease etiology and progression.	Control:235:controls;Case:327 Caucasian psoriasis patients										
124782	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sunaga, N.  et al. 2002	12163326				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):730-8	Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility.		600436	24561	2	2002	The result indicates that the NQO1-Pro/Pro and GSTT1-null genotypes are risk factors for lung adenocarcinoma development, and that the genetic factors for susceptibility to adenocarcinoma are different from those to squamous cell carcinoma. The enhanced risk of the NQO1-Pro/Pro genotype combined with the GSTT1-null genotype was more evident in smokers than in nonsmokers. Therefore, carcinogens in tobacco smoke, which are activated by NQO1 and detoxified by GSTT1, could have a role in lung adenocarcinoma development.	Control:152 control subjects;Case:198 patients with lung cancer	smoking (tobacco)									
124783		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Duell, E. J.  et al. 2002	12183419				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer research. 2002 Aug;62(16):4630-6	A Population-based Study of the Arg399Gln Polymorphism in X-Ray Repair Cross- Complementing Group 1 (XRCC1) and Risk of Pancreatic Adenocarcinoma		600436	24562	2	2002	Our results suggest that the XRCC1 399Gln allele is a potentially important determinant of susceptibility to smoking-induced pancreatic cancer. Our findings, including stronger associations and interactions among women, require replication in additional study populations.	Case:309 cases of pancreatic adenocarcinoma San Francisco Bay Area, California:1994-2001;Control:964:controls	obesity smoking (tobacco)									
124778	Y	non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	22	22q11.23	GSTT1	22706140	22714231		Kerridge, I.  et al. 2002	12139735				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		600436	24557	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
124779		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Lincz, L. F.  et al. 2004	15136237				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Australian		CDC GDPinfo	2952	Hs.268573			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		600436	24558	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
124780		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231			12018173				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Genetika. 2002 Apr;38(4):539-45	[Polymorphic genes of xenobiotic-metabolizing enzymes associated with bronchial asthma in genetically predisposed children]		600436	24559	2		The results obtained suggest an important role of xenobiotic-metabolizing enzymes in development of bronchial asthma.	Case children with bronchial asthma;Control healthy children	smoke (tobacco), passive									
124774		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Cheng, T. C.  et al. 2004	15455371				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Taiwan	CDC GDPinfo	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		600436	24553	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
124776	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Kim, Y. J.  et al. 2005	15734083				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			European journal of obstetrics, gynecology, and reproductive biology. 2005 Mar;119(1):42-6	Oxidative stress-related gene polymorphism and the risk of preeclampsia.		600436	24555	2	2005	 Polymorphisms in the oxidative stress-related genes (CYP1A1, GSTM1, GSTT1, MPO, MnSOD) do not seem to be risk factors for preeclampsia.	Case:121 preeclampsia patients;Control:214 healthy controls with an uncomplicated obstetric:history										
124777		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Pisani, P.  et al. 2002	11917213				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			European journal of cancer prevention. 2002 Feb;11(1):75-84	Cooking methods, metabolic polymorphisms and colorectal cancer		600436	24556	2	2002	Review article		diet smoking (tobacco)									
124771		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Covolo, L.  et al. 2005	16132793				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Italian		CDC GDPinfo	2952	Hs.268573			Cancer causes & control. 2005 Sep;16(7):831-8	Alcohol dehydrogenase 3, glutathione S-transferase M1 and T1 polymorphisms, alcohol consumption and hepatocellular carcinoma (Italy).		600436	24550	2	2005	 ADH3(1-1) and GSTT1 null genotypes did not modify the risk of HCC due to alcohol intake whereas an influence of GSTM1 null genotype for high ethanol consumption was suggested.		alcohol									
124772	Y	Hodgkin's disease	CANCER	CAN	Hodgkin Disease	22	22q11.23	GSTT1	22706140	22714231		Hohaus, S.  et al. 2003	12960134				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Clinical cancer research. 2003 Aug;9(9):3435-40	Association between glutathione S-transferase genotypes and Hodgkin's lymphoma risk and prognosis.		600436	24551	2	2003	 The GSTT1-null genotype may increase the risk for HL and is associated with favorable prognostic factors, and the presence of at least one GST deletion indicates an improved disease-free survival.	Control:176 normal blood donors;Case:90 patients with Hodgkin's lymphoma										
124773		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	22	22q11.23	GSTT1	22706140	22714231		Tuimala, J.  et al. 2002	12082022				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Hungary	CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		600436	24552	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
124767	N	lung cancer; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms|Respiratory Tract Diseases|Cardiovascular Diseases	22	22q11.23	GSTT1	22706140	22714231		Habdous, M.  et al. 2004	15047486				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Annales de biologie clinique. 2004 Jan-Feb;62(1):15-24	[Glutathione S-transferases genetic polymorphisms and human diseases: overview of epidemiologicalstudies]		600436	21677	2	2004	Contrary to cardiovascular disease, no evidence of interaction between GST genotype and smoking status was found in lung cancer but it has not been studied in other cancers. Consequently, other works are necessary to study the potential interaction between GST genotype and environmental carcinogens including tobacco smoke extract.		smoking (tobacco)									
124768	N	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pneumoconiosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Yucesoy, B.  et al. 2005	15923250				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Thorax. 2005 Jun;60(6):492-5	Lack of association between antioxidant gene polymorphisms and progressive massive fibrosis in coal miners.		600436	21678	2	2005	 The results of this study suggest that polymorphic genotypes within the GST gene cluster and MnSOD do not affect individual susceptibility to PMF.	Control:350 individuals with a similar underground mining tenure but no clinical or histological evidence of lung disease;Case:350 ex-coal miners with progressive massive fibrosis:cases										
124769		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Houlston, R. S.  et al. 2001	11487538				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		600436	24548	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
124764		pneumoconiosis, coal workers'	INFECTION	INF	Occupational Diseases|Pneumoconiosis	22	22q11.23	GSTT1	22706140	22714231		Zhai, R.  et al. 2002	11977425				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of occupational and environmental medicine. 2002 Apr;44(4):372-7	Genetic polymorphisms of MnSOD, GSTM1, GSTT1, and OGG1 in coal workers' pneumoconiosis		600436	21674	2	2002	Cumulative dust exposures, but not genetic polymorphisms, were associated significantly with the presence of CWP. This study illustrates the complexity of factors that may contribute to the development of CWP.	Control:160 controls (with no radiologic criteria for CWP);Case:99 cases with International Labor Organization chest radiologic criteria for CWP	coal dust smoking (tobacco)									
124765		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	22	22q11.23	GSTT1	22706140	22714231		Kim, E. J.  et al. 2005	15667866				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Korea	CDC GDPinfo	2952	Hs.268573			Urology. 2005 Jan;65(1):70-5	Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome ofbladder cancer.		600436	21675	2	2005	 Our data collectively suggest that these genetic polymorphisms may be useful as prognostic markers for bladder cancer in the clinical setting.	Control:153 control subjects;Case:153 patietns with primary bladder cancer										
124766		soft tissue sarcoma	CANCER	CAN	Sarcoma	22	22q11.23	GSTT1	22706140	22714231		Berwick, M.  et al. 2004	15459223				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of clinical oncology. 2004 Oct;22(19):3997-4001	Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma.		600436	21676	2	2004	 Further study of the role of the AhR polymorphism is warranted.	Cohort 120 newly diagnosed patients with soft tissue sarcoma 										
124760		breast cancer; thiopurine methyltransferase activity	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Hamdy, S. I.  et al. 2003	12814450				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			British journal of clinical pharmacology. 2003 Jun;55(6):560-9	Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.		600436	21670	2	2003	 We found that Egyptians resemble other Caucasians with regard to allelic frequencies of the tested variants of NAT2, GST and MDR-1. By contrast, this Egyptian population more closely resemble Africans with respect to the TPMT*3C allele, and shows a distinctly different frequency with regard to the SULT1A1*2 variant. The predominance of the slow acetylator genotype in the present study (60.50%) could not confirm a previously reported higher frequency of the slow acetylator phenotype in Egyptians (92.00%), indicating the possibility of the presence of other mutations not detectable as T341C, G590A and G857A. The purpose of our future studies is to investigate for new polymorphisms, which could be relatively unique to the Egyptian population.	Cohort 200 unrelated Egyptian subjects Egypt 										
124761	Y	cytogenetic studies	OTHER	OTH	Chromosome Aberrations	22	22q11.23	GSTT1	22706140	22714231		Tuimala, J.  et al. 2004	15450429				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Mutation research. 2004 Oct;554(2-Jan):319-33	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: effects on levelsof sister chromatid exchanges and chromosomal aberrations		600436	21671	2	2004	Our results are in line with earlier findings on the influence of NAT2, GSTT1, and GSTM1 polymorphisms on the level of lymphocyte chromosome damage and suggest that also XRCC1 polymorphism affects CA frequencies, thus apparently influencing DNA repair phenotype. It remains to be examined whether these or other genetic polymorphisms could explain the observed cancer risk predictivity of high CA frequency.	Cohort 145/6 peripheral lymphocytes of 145 (CAs) and 60 (SCEs) healthy Caucasians 										
124762	Y	benzene toxicity	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Chen, Y.  et al. 2005	15748501				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Feb;23(1):5-Jan	[Genetic polymorphisms of NQO1, GSTT1, STM1 and susceptibility to chronic benzene poisoning.]		600436	21672	2	2005	 The interaction of multi-genes may be an important role to BP. The genetic polymorphisms of 3 genes (NQO1, GSTT1 and GSTM1) led to declining of detoxifying ability in benzene metabolism, so the individual with NQO1 C609T T/T genotype, GSTT1 null genotype and GSTM1 null genotype is most susceptive to benzene. The results were consistent with that of the theoretic presumption. It could be suggested as a biomarker to assess the risk of benzene poisoning for individuals.	Case:100 patients with benzene poisoning;Control:90 workers exposed to benzene who were engaged in the same working time and job title as patients with benzene poisoning										
124757		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Hel, O. L.  et al. 2005	16049806				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Netherlands	CDC GDPinfo	2952	Hs.268573			Cancer causes & control. 2005 Aug;16(6):675-81	Cumulative genetic defects in carcinogen metabolism may increase breast cancer risk (The Netherlands).		600436	21667	2	2005			smoking (tobacco)									
124758		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Tiemersma, E. W.  et al. 2004	15090717				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Dutch	Netherlands	CDC GDPinfo	2952	Hs.268573			Cancer causes & control. 2004 Apr;15(3):225-36	Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population.		600436	21668	2	2004	 In this Dutch population, unfavorable meat consumption and preparation habits did not increase colorectal adenoma risk, and these associations were not influenced by relevant genetic polymorphisms.	Case:431 adenoma cases The Netherlands;Control:433 polyp-free controls	meat									
124759		tuberculosis; esophageal cancer	CANCER	CAN	Tuberculosis|Esophageal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Adams, C. H.  et al. 2003	12747608				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	South African		CDC GDPinfo	2952	Hs.268573			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):600-5	Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence.		600436	21669	2	2003	These variants could therefore be associated with high cancer susceptibility. In addition, the high proportion of NAT2 "fast" alleles may partially explain the high tuberculosis prevalence in South Africans, due to reduced isoniazid efficacy in the presence of rapid acetylation	Cohort African population samples 										
124754		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Cajas-Salazar, N.  et al. 2003	14626895				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Texas	CDC GDPinfo	2952	Hs.268573			International journal of hygiene and environmental health. 2003 Oct;206(6):473-83	Combined effect of MPO, GSTM1 and GSTT1 polymorphisms on chromosome aberrations and lung cancer risk		600436	21664	2	2003	Therefore, our study strengthens the combined use of genotype and biomarkers for genetic susceptibility to environmental cancer.	Case:110 Caucasian patients with lung cancer;Control:119 matched controls	smoking (tobacco)									
124755		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Kiffmeyer, W. R.  et al. 2004	14716779				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	2952	Hs.268573			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		600436	21665	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
124756	Y	leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid	22	22q11.23	GSTT1	22706140	22714231		Naoe, T.  et al. 2002	11840286				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Leukemia. 2002 Feb;16(2):203-8	Prognostic significance of the null genotype of glutathione S-transferase-T1 in patients with acute myeloid leukemia: increased early death afterchemotherapy.		600436	21666	2	2002	The null genotype of GSTT1 might be associated with increased toxicity after chemotherapy.	Cohort 193 patients with de novo acute myeloid leukemia (AML) other than M3 	chemotherapy									
124750	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Deng, Z. L.  et al. 2004	15634519				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Oct;26(10):598-600	[Frequent genetic deletion of detoxifying enzyme GSTM1 and GSTT1 genes in nasopharyngeal carcinoma patients in Guangxi Province, China]		600436	21660	2	2004	 In high-risk area, nasopharyngeal carcinoma patients and local residents have high frequency of GSTM1 and/or GSTT1 gene deletion. It suggests that a genetic susceptibility to putative chemical carcinogens may be responsible for NPC clustering in the high-risk area studied.	Control:135 control subjects;Case:91 patients with nasopharyngeal cancer Guangxi Province, China										
124751		mountain sickness	OTHER	OTH	Acute Disease|Genetic Predisposition to Disease|Altitude Sickness	22	22q11.23	GSTT1	22706140	22714231		Jiang, C. Z.  et al. 2005	16124895				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Jun;23(3):188-90	[Glutathione S-transferase M1, T1 genotypes and the risk of mountain sickness]		600436	21661	2	2005	 Genetic polymorphisms of glutathione S-transferase M1, T1 may be the risk factors in the development of mountain sickness.											
124752		PAH metabolites, urinary	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Lee, K. H.  et al. 2002	11936216				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Journal of toxicology and environmental health Part A. 2002 Mar;65(6-May):355-63	Influence of polymorphism of GSTM1 gene on association between glycophorin a mutant frequency and urinary PAH metabolites in incineration workers.		600436	21662	2	2002	These results suggest that the association between urinary 1-OHPG and GPA mutation might be modulated by the GSTM1 genotype.	Cohort 81 workers including 38 employees directly involved in incinerating industry wastes were recruited South Korea 										
124746		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ivashchenko, T. E.  et al. 2001	11234415				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Genetika. 2001 Jan;37(1):107-11	[Genetic factors in predisposition to bronchial asthma]		600436	21656	2	2001	The frequency of the GSTM1 0/0, GSTT1 0/0 individuals among the patients was 57.9%, while it was only 4.7% among the controls (chi 2 = 27.4; P < 0.001).	Case bronchial asthma patients;Control normal individuals from the northwestern Russia										
124747		head and neck cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Yang, J.  et al. 2003	12579490				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):11-Sep	[Frequencies distribution of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations]		600436	21657	2	2003	 The frequencies of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations were different, but they were almost the same in different districts of Yunnan.	Cohort 24 Yunnan populations China 										
124748	N	lung cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Lan, Q.  et al. 1999	12712736				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Chinese		CDC GDPinfo	2952	Hs.268573			Wei sheng yan jiu. 1999 Jan;28(1):11-Sep	[Glutathione S-transferase GSTM1 and GSTT1 genotypes and susceptibility to lung cancer]		600436	21658	2	1999	No association was found between GSTT1 null genotype and lung cancer. The rate of GSTM1 null genotype in Xuanwei City was found to be similar to those of other Chinese populations.	Case:86 newly diagnosed lung cancer cases Xuanwei City, China;Control:86 matched control subjects with the same sex, fuel type used, and age (=/- 2 years)										
124743	N	motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease	22	22q11.23	GSTT1	22706140	22714231		Shadrina, M. I.  et al. 2002	12500684				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Moscow	CDC GDPinfo	2952	Hs.268573			Genetika. 2002 Nov;38(11):1566-8	[Polymorphism of glutathione S-transferase genes M1 and T1 in patients with motor neuron disease from the city of Moscow]		600436	21653	2	2002	Apparently, these genes are not involved in MND pathogenesis in these patients.	Case patients with motor neuron disease:Moscow, Russia;Control random sample from the Moscow population:Moscow, Russia 										
124744	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Chen, K.  et al. 2004	15777499				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Nov;26(11):645-8	[Associations between genetic polymorphisms of glutathione S-transferase M1 and T1, smoking and susceptibility to colorectal cancer: a case-controlstudy.]		600436	21654	2	2004	 This study suggests that certain null GSTM1 and GSTT1 genotypes may be associated with an elevated risk of colorectal cancer which may be modified by interaction of the two genetic polymorphisms and cigarette smoking.	Case:126 colorectal cancer patients;Control:343 healthy controls	smoking (tobacco)									
124745	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Zou, L. L.  et al. 2004	15777500				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		China	CDC GDPinfo	2952	Hs.268573			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Nov;26(11):649-51	[Glutathione S-transferase T1, M1 gene polymorphism in leukemia patients in Shanghai area.]		600436	21655	2	2004	 Individuals who bear GSTT1 0/0 genotype or GSTT1 0/0-GSTM1 0/0 combined genotypes are more susceptible to leukemia, especially for male and younger carriers.	Control:183 healthy residents in the same city;Case:61 leukemia patients:Shanghai										
124740		hepatic GSTA1/GSTA2 expression	NORMALVARIATION	NV		22	22q11.23	GSTT1	22706140	22714231		Matsuno, K.  et al. 2004	15202795				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese		CDC GDPinfo	2952	Hs.268573			Clinical chemistry and laboratory medicine. 2004 May;42(5):560-2	Genetic analysis of glutathione S-transferase A1 and T1 polymorphisms in a Japanese population.		600436	21650	2	2004	This is the first report on the frequencies of allelic variants of GSTA1 and GST-1 in a Japanese population.	Cohort a Japanese population 										
124741		motor neuron disease	NEUROLOGICAL	NEUR		22	22q11.23	GSTT1	22706140	22714231			11898621				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Russian		CDC GDPinfo	2952	Hs.268573			Genetika. 2002 Feb;38(2):281-4	[Polymorphism of glutathione S-transferases M1 and T1 in several populations of Russia]		600436	21651	2		The highest frequency of individuals with the null genotype of both genes was observed in the Kalmyk and Buryat populations. The results may be used to study the effect of climatic and ecological conditions on multifactorial disease incidence in populations.	Cohort healthy donors from several Russian populations (ethnic Russians from the towns of Oshevensk and Kholmogory, Arkhangel'sk oblast; ethnic Khants; ethnic Kalmyks; and ethnic Buryats) 										
124742	N	asthma	IMMUNE	IMM	Asthma	22	22q11.23	GSTT1	22706140	22714231		Freidin, M. B.  et al. 2002	12173466				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Siberia	CDC GDPinfo	2952	Hs.268573			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):630-4	[Polymorphism of the theta1 and mu1 glutathione s-transferase genes (GSTT1, GSTM1) in patients with atopic bronchial asthma from the West Siberian region]		600436	21652	2	2002	No association was observed for GST and BA severity. Thus, the GST null alleles proved to be unimportant for BA.	Control:57 healthy individuals;Case:69 patients with atopic bronchial asthma Tomsk, West Siberia										
124737		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Caceres, D.  et al. 2004	15478298				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Rev Med Chil. 2004 Aug;132(8):961-70	[Gene-gene and gene-environment interactions as modifier factors of prostatic cancer risk: "acase-only" design study]		600436	21647	2	2004	 Gene-gene interactions may play a role modulating the susceptibility to PCa in a proportion of affected individuals.	Case:103 biopsy proven prostate cancer cases	smoking (tobacco)									
124738	N	hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Tiemersma, E. W.  et al. 2001	11440964				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Cancer epidemiology, biomarkers & prevention. 2001 Jul;10(7):785-91	Role of genetic polymorphism of glutathione-S-transferase T1 and microsomal epoxide hydrolase in aflatoxin-associated hepatocellular carcinoma.		600436	21648	2	2001	In conclusion, these epidemiological findings do not suggest significant roles of GSTT1 and EPHX in aflatoxin metabolism, although EPHX polymorphism is possibly related to the increased risk of HCC. Further studies are needed to investigate mechanisms by which the EPHX polymorphism potentially modifies cancer risk.	Case:112 incident cases of hepatocellular carcinoma:Sudan;Control:194	aflatoxin									
124739	Y	birth weight	REPRODUCTION	REP	Birth Weight	22	22q11.23	GSTT1	22706140	22714231		Liang, H. Y.  et al. 2005	15719050				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Beijing da xue xue bao Yi xue ban. 2005 Feb;37(1):85-9	[Associations of genetic polymorphisms in the EPHX1 gene and the GSTT1 gene with low birth weight in neonates]		600436	21649	2	2005	 The combination between genetic polymorphisms in the EPHX1 gene and the GSTT1 gene in neonates is significantly associated with neonatal low birth weight.	Control:173 mother-non low birth weight neonate pairs;Case:73 mother-low birth weight neonate pairs										
124734	Y	cardiovascular	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Cardiovascular Diseases|Myocardial Infarction|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2	22	22q11.23	GSTT1	22706140	22714231	0.001	Doney AS (05)	15927971	GSTT1 null	loss of function	block deletion	Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Scotland	CNAP	2952	Hs.268573	myocardial infarction, stroke, kidney f		Circulation. 2005 Jun;111(22):2927-34	Increased cardiovascular morbidity and mortality in type 2 diabetes is associated with the glutathione S transferase theta-null genotype: a Go-DARTS study.		600436	3041	1	2005	 Genetic absence of the GSTT1 enzyme is an independent and powerful predictor of premature vascular morbidity and death in individuals with type 2 diabetes.											
124735	Y	benzene toxicity	METABOLIC	MET	Occupational Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Zhang, Z. B.  et al. 2004	15256146				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Jun;22(3):168-72	[Case-only study on the relationship between genetic polymorphisms in toxicant metabolizing enzymes and risk of occupational chronic benzene poisoning]		600436	10995	2	2004	 There is interaction between the polymorphism of GSTT1 gene and moderate benzene exposure level; non-null GSTM1 gene and drinking x exposure level increase the risk of occupational chronic benzene poisoning; polymorphism of NQO1 gene C.609 also interacts with drinking, while polymorphism of NQO1 gene and drinking x smoking may further increase the risk of occupational chronic benzene poisoning.	Cohort 152 benzene poisoning workers 	benzene									
124736		benzene toxicity	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Wan, J.  et al. 2002	14694720				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2002 Oct;20(5):340-3	[Relation of genetic polymorphism of NQO1 and GSTT1 with risks of chronic benzene poisoning]		600436	12944	2	2002	 The subjects carrying NQO1c. 609 T/T genotype and together with the habit of smoking or drinking may be more susceptible to BP.	Case:152 chronic benzene poisoning patients;Control:152 workers occupationally exposed to benzene without poisoning manifestations	alcohol smoking (tobacco)									
124731		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Lee KM 2003	12860276				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			KGB	2952	Hs.268573			Cancer letters. 2003 Jul;196(2):179-86	N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1~~~ GSTT1) polymorphisms in breast cancer.		600436	3038	1	2003												
124732		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Medeiros R 2004	14968442				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	European	Europe|Portugal	KGB	2952	Hs.268573			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: the role of glutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms.		600436	3039	1	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124733		stomach cancer	CANCER	CAN	Stomach Neoplasms|Metaplasia	22	22q11.23	GSTT1	22706140	22714231		Chen SY 2004	14696128				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Taiwan	KGB	2952	Hs.268573			International journal of cancer. Journal international du cancer. 2004 Feb;108(4):606-12	Modification effects of GSTM1, GSTT1 and CYP2E1 polymorphisms on associations between raw salted food and incomplete intestinal metaplasia in a high-risk area of stomach cancer.		600436	3040	1	2004												
124726		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Landi, S.  et al. 2005	16006997				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		134660	28462	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124727	Y	Longevity	AGING	AGE		22	22q11.23	GSTT1	22706140	22714231	p=0.03	Taioli E 2001	11162685				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			KGB	2952	Hs.268573	detoxification of several drugs		Biochemical and biophysical research communications. 2001 Feb;280(5):1389-92	Polymorphisms of drug-metabolizing enzymes in healthy nonagenarians and centenarians: difference at GSTT1 locus.		600436	3034	1	2001		Case:94; Control:418										
124729		esophageal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Wang LD 2003	12854128				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	north Chinese	China	KGB	2952	Hs.268573			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China.		600436	3036	1	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124723		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Sachse, C.  et al. 2002	12419832				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		England	CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		134660	28147	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
124724		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Goode, E. L.  et al. 2002	12036913				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		134660	28222	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
124725		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Kiyohara, C.  et al. 2002	12234692				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		134660	28223	2	2002	Review article		smoking (tobacco)									
124720		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	11	11q13	GSTP1	67107861	67110699		Xing, D.  et al. 2003	12883749				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese	China	CDC GDPinfo	2950	Hs.523836			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		134660	27727	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
124721		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	11	11q13	GSTP1	67107861	67110699		Krajinovic, M.  et al. 2002	11895912				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		134660	27728	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
124722		cytogenetic studies	OTHER	OTH	DNA Damage	11	11q13	GSTP1	67107861	67110699		Naccarati, A.  et al. 2005	16043197				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		134660	27729	2	2005												
124717		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Matthias, C.  et al. 2003	12548461				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		134660	27440	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
124718		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	11	11q13	GSTP1	67107861	67110699			16369102				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		134660	27725	2	2006			diet family history stress									
124719		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		De Jong, M. M.  et al. 2002	12433710				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		134660	27726	2	2002	Review article											
124714		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q13	GSTP1	67107861	67110699		Figer, A.  et al. 2003	14719475				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		134660	26903	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
124715		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Garte, S.  et al. 2001	11751440				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		134660	27438	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
124716		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	11	11q13	GSTP1	67107861	67110699		Matthias, C.  et al. 2002	12063626				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		134660	27439	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
124711		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Soucek, P.  et al. 2002	12397416				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		134660	26900	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
124712		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Liang, G. Y.  et al. 2004	15640066				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese	China	CDC GDPinfo	2950	Hs.523836			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		134660	26901	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
124713		styrene toxicity	UNKNOWN	UNK		11	11q13	GSTP1	67107861	67110699		Ma, M.  et al. 2005	16125881				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		134660	26902	2	2005			smoking (tobacco)									
124708		emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Budhi, A.  et al. 2003	12579334				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Japanese	Japan	CDC GDPinfo	2950	Hs.523836			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		134660	26897	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
124709		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Leng, S. G.  et al. 2004	15355699				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		134660	26898	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
124710		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Leng, S. G.  et al. 2004	15061915				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		134660	26899	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
124705		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Sarmanova, J.  et al. 2001	11406608				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		134660	26894	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
124706		DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	11	11q13	GSTP1	67107861	67110699		Vodicka, P.  et al. 2001	11535253				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		134660	26895	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
124707		bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	11	11q13	GSTP1	67107861	67110699		Korytina, G. F.  et al. 2005	15928955				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		134660	26896	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
124702		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Skuladottir, H.  et al. 2005	15829318				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Denmark|Norway	CDC GDPinfo	2950	Hs.523836			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		134660	26074	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
124703		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Brind, A. M.  et al. 2004	15525789				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Nov-Dec;39(6):478-83	The role of polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and A1 in susceptibility to alcoholic liver disease.		134660	26075	2	2004	 We have failed to demonstrate within the limitation of a case-control study a reproducible significant association of GST polymorphisms with susceptibility to ALD but there are suggestions that GSTA1 and GSTT1 warrant further study.	Control normal local controls;Case alcohol-related chronic liver disease patients North Staffordshire, Birmingham and Liverpool										
124704		lymphoma; Hodgkin's disease	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Sarmanova, J.  et al. 2000	11191882				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		134660	26893	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
124699		styrene toxicity	UNKNOWN	UNK		11	11q13	GSTP1	67107861	67110699		Teixeira, J. P.  et al. 2004	14751678				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Toxicology. 2004 Feb;195(3-Feb):231-42	Occupational exposure to styrene: modulation ofcytogenetic damage and levels of urinary metabolites of styrene by polymorphisms in genes CYP2E1, EPHX1, GSTM1, GSTT1 and GSTP1.		134660	26071	2	2004	The present data seem to suggest that apart from the methodology usually used for monitoring populations occupationally exposed to styrene (urinary metabolites and biomarkers of early biological effects) the analysis of individual genotypes associated with the metabolic fate of styrene should also be carried out in order to evaluate the individual genetic susceptibility of exposed populations.	Control:28 control subjects;Case:28 reinforced plastic workers										
124700		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	11	11q13	GSTP1	67107861	67110699		Stoehlmacher, J.  et al. 2004	15213713				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		134660	26072	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
124701		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	11	11q13	GSTP1	67107861	67110699		To-Figueras, J.  et al. 2002	12359356				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer letters. 2002 Dec;187(2-Jan):95-101	Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk.		134660	26073	2	2002	These results on larynx cancer tend to confirm a former study on lung cancer (Cancer Lett. 173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers.	Control:203 healthy controls;Case:204 patients with larynx cancer										
124696		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Tuominen, R.  et al. 2002	11967624				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		134660	26068	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
124697		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Turner, F.  et al. 2004	15352038				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Great Britain	CDC GDPinfo	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		134660	26069	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
124698		exposure to 1,3-butadiene	PHARMACOGENOMIC	PHARM		11	11q13	GSTP1	67107861	67110699		Fustinoni, S.  et al. 2002	12376511				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1082-90	Influence of metabolic genotypes on biomarkers of exposure to 1,3-butadiene in humans.		134660	26070	2	2002	Our results indicate that the THBVal level is influenced by genotypes, and that the analysis of combined polymorphisms may be the key to a better understanding of the role played by polymorphism of BD-metabolizing enzymes.	Control:10:clerks;Case:30 Italian 1,3-butadiene-exposed workers										
124693	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Casson, A. G.  et al. 2003	12670526				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer detection and prevention. 2003 ;27(2):139-46	Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma.		134660	26065	2	2003	We conclude that  polymorphisms of GSTP1 and mEH may be implicated in individual susceptibility to esophageal adenocarcinoma, possibly as a result of increased Phase I activation (mEH) and impaired Phase II detoxification (GSTP1). GSTT1 may also play a role in esophageal tumorigenesis through a pathway that involves abnormalities in the p53 tumor suppressor gene.	Case:45 patients with surgically resected esophageal:adenocarcinomas;Control:45 healthy controls from the same geographic region matched for age, gender and smoking history										
124694		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Wang, L. D.  et al. 2003	12854128				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		China	CDC GDPinfo	2950	Hs.523836			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study ofpopulation from a high- incidence area in north China.		134660	26066	2	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124695	Y	cytogenetic studies	OTHER	OTH		11	11q13	GSTP1	67107861	67110699		Lodovici, M.  et al. 2004	15298956				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1342-8	Benzo(a)pyrene Diolepoxide (BPDE)-DNA Adduct Levels in Leukocytes of Smokers in Relation to Polymorphism of CYP1A1, GSTM1, GSTP1, GSTT1, and mEH		134660	26067	2	2004	In conclusion, CYP1A1, GSTM1, and GSTP1 genotyping seems to be a risk predictor of BPDE-DNA adduct formation in leukocytes.	Cohort 41 healthy smokers 	smoking (tobacco)									
124690		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q13	GSTP1	67107861	67110699		Nam, R. K.  et al. 2003	14693733				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		134660	26062	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
124691		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Sandford, A. J.  et al. 2002	12149538				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		134660	26063	2	2002	Review article		smoking (tobacco)									
124692		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		De Jong, D. J.  et al. 2003	12631667				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomalepoxide hydrolase.		134660	26064	2	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
124687		sex hormones	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Ko, Y.  et al. 2001	11389067				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		134660	26059	2	2001	The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.	Case smoking cases;Control smoking controls	smoking (tobacco)									
124689		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	11	11q13	GSTP1	67107861	67110699		You, W. C.  et al. 2005	15734972				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese		CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		134660	26061	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)									
124684		cytogenetic studies	OTHER	OTH		11	11q13	GSTP1	67107861	67110699		Cheng, J.  et al. 2005	15938845				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		134660	26056	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
124685	Y	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Dialyna, I. A.  et al. 2001	11408954				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			International journal of molecular medicine. 2001 Jul;8(1):79-87	Genetic polymorphisms and transcriptional pattern analysis of CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes in breast cancer.		134660	26057	2	2001	Genotyping analysis did not show any correlation to breast cancer risk. However, RT-PCR analysis provided evidence that CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes are frequently deregulated in breast cancer and could be used as molecular biomarkers for better clinical management of such patients, with respect to chemotherapy.	Control:171 age and sex matched controls;Case:207 female breast cancer patients										
124686		intrauterine growth	REPRODUCTION	REP		11	11q13	GSTP1	67107861	67110699		Yamada, H.  et al. 2004	14665706				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Molecular human reproduction. 2004 Jan;10(1):49-53	A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.		134660	26058	2	2004	The polymorphism of CYP17 that encodes the cytochrome P450c17alpha enzyme might be associated with the pathophysiology underlying fetal growth restriction.	Cohort 134 women who experienced singleton deliveries beyond 24 weeks gestation 										
124682	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Wikman, H.  et al. 2002	11927838				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		134660	24546	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
124683		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Garcia-Closas, M.  et al. 2005	16112301				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		134660	24547	2	2005			smoking (tobacco)									
124678		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms	11	11q13	GSTP1	67107861	67110699		Fryer, A. A.  et al. 2004	15459020				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Australian	Australia	CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2005 Jan;26(1):185-91	Polymorphisms in glutathione S-transferases and non-melanoma skin cancer risk in Australian renal transplant recipients.		134660	24542	2	2004	These data confirm our UK findings, suggesting that protection against UVR-induced oxidative stress is important in NMSC development in recipients, but that this effect depends on immunosuppressant regimen.	Cohort 361 Queensland renal transplant recipients Queensland, Australia 										
124679		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Juronen, E.  et al. 2000	11040079				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Experimental eye research. 2000 Nov;71(5):447-52	Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.		134660	24543	2	2000	The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.	Control:202:controls;Case:250 glaucoma patients:Estonia										
124680		stomach cancer	CANCER	CAN	Stomach Neoplasms	11	11q13	GSTP1	67107861	67110699		Lan, Q.  et al. 2001	11692073				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Polish	Poland	CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2001 Nov;11(8):655-61	Glutathione S-transferase genotypes and stomach cancer in a population-based case-control study in Warsaw, Poland		134660	24544	2	2001	These results suggest that the GSTT1 null genotype may be associated with increased risk of stomach cancer.	Case:304 stomach cancer patients:Warsaw, Poland;Control:427 control subjects not otherwise specified										
124675	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Mitrunen, K.  et al. 2001	11303592				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Finland	CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):229-36	Glutathione S-transferase M1, M3, P1, and T1 genetic polymorphisms and susceptibility to breast cancer.		134660	24539	2	2001	Our findings support the view that GST genotypes contribute to the individual breast cancer risk, especially in certain combinations.	Control:482 healthy population controls;Case:483 incident breast cancer cases										
124676		lung cancer; hamartomas	CANCER	CAN	Hamartoma|Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Diseases|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Risch, A.  et al. 2001	11740339				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2001 Dec;11(9):757-64	Glutathione-S-transferase M1, M3, T1 and P1 polymorphisms and susceptibility to non-small-cell lung cancer subtypes and hamartomas.		134660	24540	2	2001	In conclusion, GST genotypes may act differently, either by detoxifying harmful tobacco carcinogens and/or by eliminating lung cancer chemopreventive agents. The latter role for GSTT1 would explain the observed lower risk of SCC and hamartoma associated with GSTT1 null. Further confirmatory studies are required.	Control:353 hospital control subjects;Case:389 Caucasian lung cancer patients (151 adenocarcinomas and 172 squamous cell carcinomas)										
124677		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	11	11q13	GSTP1	67107861	67110699		Flamant, C.  et al. 2004	15115915				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2004 May;14(5):295-301	Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.		134660	24541	2	2004	 These data provide the first evidence suggesting that polymorphism of the GSTM3 gene contributes to clinical severity in CF, which may have prognostic significance and could prompt to start a more targeted therapy in young patients with CF.	Cohort 146 children with cystic fibrosis 										
124672		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Loktionov, A.  et al. 2001	11408349				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2001 Jul;22(7):1053-60	Glutathione-S-transferase gene polymorphisms in colorectal cancer patients: interaction betweenGSTM1 and GSTM3 allele variants as a risk-modulating factor.		134660	24536	2	2001	Our findings suggest that interactions of polymorphic genotypes within the GSTM gene cluster affect individual susceptibility to colorectal carcinogenesis, the GSTM3*B variant presence being a risk factor especially in combination with the GSTM1-null genotype.	Case:206 cancer (59 proximal and 147 distal) patients;Control:355 healthy controls										
124673		acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity	UNKNOWN	UNK		11	11q13	GSTP1	67107861	67110699		Thier, R.  et al. 2001	11535247				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Mutation research. 2001 Oct;482(2-Jan):41-6	Influence of polymorphisms of the human glutathione transferases and cytochrome P450 2E1 enzyme on the metabolism and toxicity of ethylene oxide and acrylonitrile.		134660	24537	2	2001	The data, therefore, point to a possible influence of a human enzyme polymorphism of the GSTP1 gene at codon 104 on the detoxication of acrylonitrile which calls for experimental toxicological investigation. The study also confirmed the impact of GSTT1 polymorphism on background N-(hydroxyethyl)-valine adduct levels in haemoglobin which are caused by endogenous ethylene oxide.	Cohort 59 persons with industrial handling of low levels of acrylonitrile 	acrylonitrile									
124674		ototoxicity	OTHER	OTH	Osteosarcoma|Hearing Loss, Functional	11	11q13	GSTP1	67107861	67110699		Peters, U.  et al. 2000	11081456				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Anti-cancer drugs. 2000 Sep;11(8):639-43	Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin		134660	24538	2	2000	a protective effect was found for the GSTM3*B allele with a frequency of 0.18 in the group with normal hearing after therapy versus 0.025 in the group with hearing impairment. (chi2=5.37; p=0.02).	Control:19 patients with no hearing impairment under comparable doses of the drug;Case:20 patients early and highly sensitive to the ototoxicity of cisplatin	cisplatin									
124669		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699			16365014				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2943-51	GSTP1 and GSTA1 polymorphisms interact with cruciferous vegetable intake in colorectal adenoma risk		134660	24533	2	2005			diet									
124670		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Komiya, Y.  et al. 2004	15616829				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Japanese		CDC GDPinfo	2950	Hs.523836			Journal of cancer research and clinical oncology. 2005 Apr;131(4):238-42	Human glutathione S-transferase A1, T1, M1, and P1 polymorphisms and susceptibility to prostate cancer in the Japanese population		134660	24534	2	2004	 These findings suggest that the GSTA1 and GSTT1 polymorphisms are associated with prostate cancer susceptibility, especially among smokers.	Case:190 Japanese male patients with prostate cancer;Control:294 healthy controls, frequency-matched for age	smoking (tobacco)									
124671		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Van Der Logt, E. M.  et al. 2004	15319294				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		134660	24535	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
124666		DNA damage	OTHER	OTH	DNA Damage	11	11q13	GSTP1	67107861	67110699		Buschini, A.  et al. 2003	12717779				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Environmental and molecular mutagenesis. 2003 ;41(4):243-52	Genetic polymorphism of drug-metabolizing enzymes and styrene-induced DNA damage.		134660	24530	2	2003	The field survey confirms that styrene exposure is associated with increased DNA damage and indicates a modulating role for GSTM1 and GSTT1 genotypes. In vitro experiments suggest that the extent of SO-induced DNA strand breaks depends, at least in part, on interindividual differences in GSH-conjugation capabilities.	Control:14 unexposed healthy controls;Case:48 worders exposed to styrene	styrene									
124667	Y	cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Leng, S.  et al. 2004	15466980				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1631-9	Effects of Genetic Polymorphisms of Metabolic Enzymes on Cytokinesis-Block Micronucleus in Peripheral Blood Lymphocyte among Coke-Oven Workers		134660	24531	2	2004	These results indicate that the mEH, GSTP1, and GSTM1 polymorphisms may play a role in sensitivity or genetic susceptibility to the genotoxic effects of PAH exposure in the coke-oven workers.	Case:141 coke-oven workers;Control:66 non-coke-oven worker controls	polycyclic aromatic hydrocarbons									
124668	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Yang, P.  et al. 2004	15192016				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2004 Oct;25(10):1935-44	Glutathione pathway genes and lung cancer risk in young and old populations.		134660	24532	2	2004	Results from logistic regression analyses supported the results from RPART models. GSH pathway genes are associated with lung cancer development in young and old populations through differing interactions with cigarette smoking and family history. Carefully evaluating multiple levels of gene-environment and gene-gene interactions is critical in assessing lung cancer risk.	Control:234 controls (165 young, 69 old) consecutively enrolled at the Mayo Clinic;Case:237 primary lung cancer patients (170 young, 67 old) consecutively enrolled at the Mayo Clinic:US:1997-2001	smoking (tobacco)									
124663		sulphamethoxazole hypersensitivity	PHARMACOGENOMIC	PHARM	HIV Seropositivity|Hypersensitivity	11	11q13	GSTP1	67107861	67110699		Pirmohamed, M.  et al. 2000	11186133				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics. 2000 Nov;10(8):705-13	Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity		134660	24527	2	2000	Our results show that genetic polymorphisms in drug metabolizing enzymes are unlikely to be major predisposing factors in determining individual susceptibility to co-trimoxazole hypersensitivity in HIV-positive patients.	Case:56 HIV-positive patients with SMX hypersensitivity;Control:89 HIV-positive patients without SMX hypersensitivity	co-trimoxazole									
124664		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	11	11q13	GSTP1	67107861	67110699		Chernajovsky, Y.  et al. 2002	12421093				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		134660	24528	2	2002	Review article											
124665		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	11	11q13	GSTP1	67107861	67110699		Dufour, C.  et al. 2005	16079101				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		CDC GDPinfo	2950	Hs.523836			Haematologica. 2005 Aug;90(8):1027-31	Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients.		134660	24529	2	2005	 The low/null activity polymorphisms of the detoxifying enzymes CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 are not associated with the risk of developing aplastic anemia or to the response to immunosuppressive therapy in Caucasian patients.											
124660	Y	DNA adducts	OTHER	OTH	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Brockstedt, U.  et al. 2002	11943609				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		134660	24524	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 										
124661		longevity	AGING	AGE	Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Pesch, B.  et al. 2004	15177664				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Germany	CDC GDPinfo	2950	Hs.523836			Toxicology letters. 2004 Jun;151(1):283-90	Polymorphic metabolic susceptibility genes and longevity: a study in octogonarians.		134660	24525	2	2004	Polymorphic metabolic susceptibility genes could become relevant for processes of aging when toxic defense mechanisms decline.	Case:205:octogenarians;Control:294 non-cancer persons aged less than 80 years										
124662		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q13	GSTP1	67107861	67110699		Hung, R. J.  et al. 2004	15122594				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		134660	24526	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)									
124657		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Ceschi, M.  et al. 2005	15845652				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese	Singapore|China	CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2005 Aug;26(8):1457-64	The effect of cyclin D1 (CCND1) G870A-polymorphism on breast cancer risk is modified by oxidative stress among Chinese women in Singapore.		134660	24521	2	2005	The AA genotype did not affect breast cancer risk. The results of this study are compatible with the hypothesis that the oxidant-antioxidant balance in cells is an important determinant of the direction of the cyclin D1 effect, leading either to cell proliferation or cell death.	Case:258 breast cancer cases nested into the Singapore Chinese Health Study;Control:670 female cohort controls nested into the Singapore Chinese Health Study										
124658	N	cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD	OTHER	OTH	Respiratory Tract Infections|Cystic Fibrosis|Chronic Disease	11	11q13	GSTP1	67107861	67110699			15125256				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Russia	CDC GDPinfo	2950	Hs.523836			Genetika. 2004 Mar;40(3):401-8	[Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases]		134660	24522	2	2004	In patients with chronic obstructive pulmonary disease (COPD), the frequencies of the GSTM1 and GSTP1 genotype combinations virtually did not differ from those in the control group suggesting that COPD severity is not related to changes in activities of glutathione S-transferases M1 and P1.	Control:controls;Case patients with cystic fibrosis and chronic bronchopulmonary diseases:Bashkortostan										
124659		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Larsen, J. E.  et al. 2005	16195240				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Carcinogenesis. 2005	CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.		134660	24523	2	2005			smoking (tobacco)									
124654		lung cancer	CANCER	CAN	Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Sorensen, M.  et al. 2004	15069685				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2004 Jun;110(2):219-24	Glutathione S-transferase T1 null-genotype is associated with an increased risk of lung cancer.		134660	21646	2	2004	These results suggest that the GSTT1 null-genotype is associated with an increased risk of lung cancer, especially in younger individuals.	Case lung cancer cases:Cohort population based cohort subjects matched on duration of smoking										
124655		pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease	11	11q13	GSTP1	67107861	67110699		Rahman, S. H.  et al. 2004	15131792				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Gastroenterology. 2004 May;126(5):1312-22	Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis		134660	24519	2	2004	 The functional GSTT-1*A genotype was associated with severe attacks of pancreatitis. Heightened oxidative stress characterized by glutathione depletion may be of importance in mediating the progression from mild to severe pancreatitis.	Control:263:controls;Case:320 patients with acute pancreatitis										
124656		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	11	11q13	GSTP1	67107861	67110699		Rahman, S. H.  et al. 2005	16047490				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Digestive diseases and sciences. 2005 Jul;50(7):1376-83	Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress andimpaired antioxidant capacity.		134660	24520	2	2005	We conclude that  the GSTT-1 functional genotype is associated with ICP. Evidence of altered glutathione redox status suggests that this disease modification may be a consequence of oxidative stress or the bioactivation of xenobiotics.											
124651	N	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	11	11q13	GSTP1	67107861	67110699		Chiu, B. C.  et al. 2005	15725081				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			British journal of haematology. 2005 Mar;128(5):610-5	Association of NAT and GST polymorphisms with non-Hodgkin's lymphoma: a population-basedcase-control study.		134660	21643	2	2005	In summary, although NAT1, NAT2, GSTM1, GSTT1, or GSTP1 polymorphisms do not appear to be associated with NHL risk overall, there might be gender-specific and subtype-specific associations that require confirmation.	Case:389 non-Hodgkin's lymphoma cases;Control:535 population-based controls										
124652		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699			16395669				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		134660	21644	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
124653		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Chan, E. C.  et al. 2005	16157195				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese		CDC GDPinfo	2950	Hs.523836			Cancer genetics and cytogenetics. 2005 Oct;162(1):20-Oct	Polymorphisms of the GSTM1, GSTP1, MPO, XRCC1, and NQO1 genes in Chinese patients with non-small cell lung cancers: relationship with aberrant promotermethylation of the CDKN2A and RARB genes.		134660	21645	2	2005												
124648	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q13	GSTP1	67107861	67110699		Deng, Y.  et al. 2004	15288444				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Neuroscience letters. 2004 Aug;366(3):326-31	Case-only study of interactions between genetic polymorphisms of GSTM1, P1, T1 and Z1 and smoking in Parkinson's disease.		134660	21640	2	2004	These data suggest that one or more GSTP1 polymorphisms may interact with cigarette smoking to influence the risk for PD.	Cohort 400 Parkinson's disease cases Cohort 402 healthy, aged individuals with smoking exposure information 	smoking (tobacco)									
124649		solar keratosis	UNKNOWN	UNK	Keratosis|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Carless, M. A.  et al. 2002	12485442				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Australian	Australia	CDC GDPinfo	2950	Hs.523836			The Journal of investigative dermatology. 2002 Dec;119(6):1373-8	The GSTM1 null genotype confers an increased risk for solar keratosis development in an Australian Caucasian population.		134660	21641	2	2002	Overall, glutathione-S-transferase M1 conferred a significant increase in risk of solar keratoses development, particularly in the presence of high outdoor exposure and synergistically with known phenotypic risk factors of fair skin and inability to tan.	Cohort volunteers involved in the Nambour Skin Cancer Prevention Trial Australia 	solar injury									
124650		lung function	OTHER	OTH	Lung Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		He, J. Q.  et al. 2002	12153964				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			American journal of respiratory and critical care medicine. 2002 Aug;166(3):323-8	Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers.		134660	21642	2	2002	None of the genotypes studied had a statistically significant effect on decline of lung function when analyzed separately. There was an association between rapid decline of lung function and presence of all three GST polymorphisms (odds ratio [OR] = 2.83; p = 0.03). A combination of a family history of chronic obstructive pulmonary disease with GSTP1 105Ile/Ile genotype was also associated with rapid decline of lung function (OR = 2.20; p = 0.01). However, due to the multiple comparisons that were made, these associations may represent type 1 error. There was no association between HMOX1 (GT)n alleles and the rate of decline in lung function in smokers.	Case:299 rapid decliners [change in forced expiratory volume in 1 second (DeltaFEV(1)) = -152 +/- 2.5 ml/year] selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study;Control:322 nondecliners [DeltaFEV(1) = +15 +/- 1.5 ml/year]) selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study	family history									
124645		head and neck cancer; benzene toxicity	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Xu, Q.  et al. 2005	15952134				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Korean		CDC GDPinfo	2950	Hs.523836			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):347-9	[Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, GSTT1, and GSTP1 in Korean]		134660	21637	2	2005	 The genetic distribution of the genes in Korean is similar to the distribution of those in Chinese; more than half of the Korean in the study sample lack GSTM1 and GSTT1; the frequency for GSTM1 and GSTT1 null type of Korean is 3 times that of Indian.											
124646		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Nazar-Stewart, V.  et al. 2003	12781423				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Washington	CDC GDPinfo	2950	Hs.523836			Lung cancer (Amsterdam, Netherlands). 2003 Jun;40(3):247-58	A population-based study of glutathione S-transferase M1, T1 and P1 genotypes and risk for lung cancer.		134660	21638	2	2003	These results support previous reports that the GSTM1 null genotype is associated with a modest increase in risk for lung cancer, particularly among heavy smokers, suggest no role for GSTT1 and the need for further study of GSTP1.	Case:274 males identified from 1993 to 1996 through the Fred Hutchinson Cancer Research Center Cancer Surveillance System registry western Washington State;Control:501 male age-matched controls selected by random-digit:dialing	smoking (tobacco)									
124647		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Zubowska, M.  et al. 2004	15738600				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Medycyna wieku rozwojowego. 2004 Apr-Jun;8(2 Pt 1):245-57	[Increased frequency of A-G transition at exon 5 of GSTP1 as a genetic risk factor for acute childhood leukaemia]		134660	21639	2	2004	 transition in exon 5 of GSTP1 gene (alone or combined with GSTM1 deletion) may be one of the molecular predictors of higher susceptibility to acute leukaemia in children. but not of the clinical course of this disease.	Control:460 healthy controls;Case:86 children with newly diagnosed acute leukaemia										
124642		perinatal mortality	OTHER	OTH	Obstetric Labor, Premature|Infant, Newborn, Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Raijmakers, M. T.  et al. 2004	15488121				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Netherlands	CDC GDPinfo	2950	Hs.523836			Acta obstetricia et gynecologica Scandinavica. 2004 Nov;83(11):1056-60	The Tyr113His polymorphism in exon 3 of the microsomal epoxide hydrolase gene is a risk factor for perinatal mortality.		134660	21634	2	2004	 Our results suggest that the maternal Tyr113His polymorphism in EPHX may be a risk factor for perinatal mortality. However, more research is needed to determine the implication of this finding.	Control:71/66 females (n=71) and males (n=66) with no complications in their obstetric history;Case:72/46 females (n=72) and males (n=46) with a history of preinatal mortality										
124643		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	11	11q13	GSTP1	67107861	67110699		Gebhardt, G. S.  et al. 2004	16147638				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Coloured population of the Western Cape, South Africa.	South Africa	CDC GDPinfo	2950	Hs.523836			Journal of obstetrics and gynaecology. 2004 Nov;24(8):866-72	Maternal and fetal single nucleotide polymorphisms in the epoxide hydrolase and gluthatione S-transferase P1 genes are not associated with pre-eclampsia in the Coloured population of the Western Cape, South Africa.		134660	21635	2	2004												
124644	N	polycyclic aromatic hydrocarbons	OTHER	OTH		11	11q13	GSTP1	67107861	67110699		Weiserbs, K. F.  et al. 2003	12775499				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	African American		CDC GDPinfo	2950	Hs.523836			Biomarkers. 2003 Mar-Apr;8(2):142-55	A cross-sectional study of polycyclic aromatic hydrocarbon-DNA adducts and polymorphism of glutathione S-transferases among heavy smokers by race/ethnicity		134660	21636	2	2003	We found no association between adduct levels and GSTP1 genotype. Although the mechanism is unclear, ethnic differences in DNA damage levels may in part explain why African-Americans have higher lung cancer incidence rates than other ethnic groups.	Cohort 151 smokers who were recruited for possible participation in an antioxidant vitamin intervention study 										
124639		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Antognelli, C.  et al. 2004	15538743				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			The Prostate. 2005 May;63(3):240-51	Association of CYP17, GSTP1, and PON1 polymorphisms with the risk of prostate cancer.		134660	21631	2	2004	 The three polymorphisms appear to be common genetic traits that are associated with an increased risk for PCa: the analysis of them all in each single case may be a predictable factor, particularly among groups exposed to PCa-related carcinogens.	Control:360 age-matched control patients with benign prostatic:hyperplasia;Case:384 patients with untreated prostate cancer										
124640	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Liang, G.  et al. 2005	15896461				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese	China	CDC GDPinfo	2950	Hs.523836			Cancer letters. 2005 Jun;223(2):265-74	Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population.		134660	21632	2	2005	The sequencing results of CYP1B1, GSTP1 and hOGG1 matched the ones of diASA-AMP technique. CYP1B1 432Val polymorphism may modulate the individual susceptibility of lung cancer among smokers in Chinese population. GSTP1 Ile105Val and hOGG1 Ser326Cys polymorphisms were not found to be risk factors of lung cancer in this study. The method diASA-AMP is rapid, specific and cost-effective. It can be used for rapid detection of the genes related with tumor susceptibility of population.	Control:controls;Case:227 patients with lung cancer	smoking (tobacco)									
124641		cutaneous reactions to sulfonamides	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Drug Hypersensitivity	11	11q13	GSTP1	67107861	67110699		Wolkenstein, P.  et al. 2005	16297214				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			The Journal of investigative dermatology. 2005 Nov;125(5):1080-2	Association analysis of drug metabolizing enzyme gene polymorphisms in AIDS patients with cutaneous reactions to sulfonamides.		134660	21633	2	2005												
124636		cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Disease Progression	11	11q13	GSTP1	67107861	67110699		Stickel, F.  et al. 2005	16157826				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Archives of internal medicine. 2005 Sep;165(16):1835-40	Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis.		134660	14050	2	2005	 Cirrhosis is more likely to develop in C282Y homozygotes with the GSTP1 Val/Val genotype than in those with non-Val/Val genotypes, which in part explains the variable phenotypic expression of HHC and highlights the central role of oxidative stress in its pathogenesis.			C282Y	homozygotes	GSTP1	Val/Val			Y		hereditary hemochromatosis and progression to Cirrhosis
124637	Y	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Guindalini, C.  et al. 2005	16272961				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Pharmacogenetics and genomics. 2005 Dec;15(12):891-3	A GSTP1 functional variant associated with cocaine dependence in a Brazilian population.		134660	17056	2	2005												
124638		central nervous system relapse	NEUROLOGICAL	NEUR	Leukemia, Lymphocytic, Acute|Central Nervous System Neoplasms|Recurrence	11	11q13	GSTP1	67107861	67110699		Stanulla, M.  et al. 2005	15717687				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			International journal of hematology. 2005 Jan;81(1):39-44	GSTP1 and MDR1 genotypes and central nervous system relapse in childhood acute lymphoblastic leukemia.		134660	21630	2	2005	These results suggested a modulating role for host genetic variation in the development of CNS relapse in childhood ALL treated according to Berlin-Frankfurt-Munster protocols.	Case childhood acute lymphoblastic leukemia cases with central nervous system relapse;Control matched controls	chemotherapy									
124633		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699			16317430				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			British journal of cancer. 2006 Jan;94(2):281-6	Polymorphisms of glutathione S-transferases (GST) and thymidylate synthase (TS) - novel predictors for response and survival in gastric cancer patients		134660	10992	2	2005												
124634	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Lin, P.  et al. 2003	12711112				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Taiwan	CDC GDPinfo	2950	Hs.523836			Lung cancer (Amsterdam, Netherlands). 2003 May;40(	Analysis of NQO1, GSTP1, and MnSOD genetic polymorphisms on lung cancer risk in Taiwan.		134660	14011	2	2003	These results suggest that NQO1 plays a role in the development of cigarette smoking-associated lung adenocarcinoma. In addition, GSTP1 polymorphism was associated with the risk of squamous cell lung carcinoma in Taiwan.	Case:198 lung cancer casese:Taiwan;Control:332:controls	smoking (tobacco)									
124635	N	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pneumoconiosis|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Yucesoy, B.  et al. 2005	15923250				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Thorax. 2005 Jun;60(6):492-5	Lack of association between antioxidant gene polymorphisms and progressive massive fibrosis in coal miners.		134660	14043	2	2005	 The results of this study suggest that polymorphic genotypes within the GST gene cluster and MnSOD do not affect individual susceptibility to PMF.	Control:350 individuals with a similar underground mining tenure but no clinical or histological evidence of lung disease;Case:350 ex-coal miners with progressive massive fibrosis:cases										
124630		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	11	11q13	GSTP1	67107861	67110699		Xiao, D.  et al. 2004	15161530				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese		CDC GDPinfo	2950	Hs.523836			Chinese medical journal. 2004 May;117(5):661-7	Relationship between polymorphisms of genes encoding microsomal epoxide hydrolase and glutathione S-transferase P1 and chronic obstructive pulmonary disease		134660	10968	2	2004	 mEH exon 3 heterozygotes might be associated with susceptibility to COPD in China. The interaction might exist between mEH genotype and smoke. The gene polymorphism for GSTP1 might not be associated with susceptibility to COPD in the Chinese population.	Control:100 age- and sex-matched healthy controls;Case:100 chronic obstructive pulmonary disease patients	smoking (tobacco)									
124631	N	motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease	11	11q13	GSTP1	67107861	67110699			15341277	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Russian	Russia	CDC GDPinfo	2950	Hs.523836			Genetika. 2004 Jun;40(6):850-2	[Analysis of the glutathione S-transferase P1 gene Ile105Val polymorphism in the patients with sporadic motor neuron disease from Russia]		134660	10970	2	2004	We conclude that  Ile105Val polymorphism is not associated with the risk of the disease development in the patients from Russia with sporadic form of MND.	Case Russian patients with motor neuron disease;Control:controls										
124632	Y	methamphetamine abuse; psychoses	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced|Amphetamine-Related Disorders	11	11q13	GSTP1	67107861	67110699		Hashimoto, T.  et al. 2005	15729709				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Japanese	Japan	CDC GDPinfo	2950	Hs.523836			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):9-May	A functional glutathione S-transferase P1 gene polymorphism is associated with methamphetamine-induced psychosis in Japanese population.		134660	10979	2	2005	Our findings suggest that the polymorphism (Ile105Val) on exon 5 of the GSTP1 gene may contribute to a vulnerability to psychosis associated with MAP abuse in Japanese population.	Case:189` methamphetamine abuseser;Control:199 normal controls										
124627	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	11	11q13	GSTP1	67107861	67110699		Xiao, D.  et al. 2003	14521761				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese		CDC GDPinfo	2950	Hs.523836			Zhonghua jie he he hu xi za zhi. 2003 Sep;26(9):555-8	[Association between polymorphisms in the gene coding for glutathione S-transferase P1 and chronic obstructive pulmonary disease]		134660	10961	2	2003	 The gene polymorphism for GSTP1 was not associated with susceptibility to COPD in the Chinese population.	Case:100 Chinese chronic obstructive pulmonary disease/COPD:patients;Control:100 age and sex matched healthy controls										
124628	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	11	11q13	GSTP1	67107861	67110699		Yuan, X. J.  et al. 2003	14642067				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese		CDC GDPinfo	2950	Hs.523836			Zhonghua yi xue za zhi. 2003 Nov;83(21):1863-6	[Analysis on GST-Pi genetic polymorphism in children with acute leukemia]		134660	10962	2	2003	 The gene mutation of GST-Pi exon5 is one of the potential vulnerable factors in leukemogenesis of the Chinese children and the genetic polymorphism of exon6 in Chinese is greatly different from that in other races. The role of the newly discovered variant genotype Asp(147) Try in leukemogenesis remains to be further studied.	Case:120 Chinese children with acute leukemia;Control:85 healthy children										
124629	N	lung cancer; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms|Respiratory Tract Diseases|Cardiovascular Diseases	11	11q13	GSTP1	67107861	67110699		Habdous, M.  et al. 2004	15047486				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDPinfo	2950	Hs.523836			Annales de biologie clinique. 2004 Jan-Feb;62(1):15-24	[Glutathione S-transferases genetic polymorphisms and human diseases: overview of epidemiologicalstudies]		134660	10964	2	2004	Contrary to cardiovascular disease, no evidence of interaction between GST genotype and smoking status was found in lung cancer but it has not been studied in other cancers. Consequently, other works are necessary to study the potential interaction between GST genotype and environmental carcinogens including tobacco smoke extract.		smoking (tobacco)									
124624		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Aynacioglu AS 2004	14748821				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			British journal of clinical pharmacology. 2004 Feb;57(2):213-7	Protective role of glutathione S-transferase P1 (GSTP1) Val105Val genotype in patients with bronchial asthma.		134660	3032	1	2004	 These results suggest a significant association between GSTP1 Ile105Val polymorphism and susceptibility to asthma and that the GSTP1 Val105Val genotype may be protective against developing this disease.											
124625		bronchopulmonary dysplasia.	OTHER	OTH	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Manar MH 2004	14726935				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Journal of perinatology. 2004 Jan;24(1):30-5	Association of glutathione-S-transferase-P1 (GST-P1) polymorphisms with bronchopulmonary dysplasia.		134660	3033	1	2004	 This pilot study suggests that BPD is associated with the presence of the GST-P1 105ile allele. Future prospective studies are warranted.											
124626	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Disease Susceptibility|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Lu, B.  et al. 2002	12485534				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese	China	CDC GDPinfo	2950	Hs.523836			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Oct;41(10):678-81	[Correlation between exon5 polymorphism of glutathione S-transferase P1 gene and susceptibility to chronic obstructive pulmonary disease in northern Chinese population of Han nationality living in Beijing, China]		134660	10955	2	2002	 The genetic polymorphism in GSTP1 gene exon5 was not associated with the susceptibility to COPD in northern Chinese population of Han nationality.	Control:67 smoking control subjects without COPD;Case:97 Chinese Han COPD patients:Beijing, China										
124621		hepatitis B-related hepatocellular carcinoma	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	11	11q13	GSTP1	67107861	67110699		Yu MW 2003	14519756				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Journal of the National Cancer Institute. 2003 Oct;95(19):1485-8	Polymorphisms in XRCC1 and glutathione S-transferase genes and hepatitis B-related hepatocellular carcinoma.		134660	3029	1	2003												
124622		smoking	CANCER	CAN	Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Miller DP 2003	14501269				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Epidemiology (Cambridge, Mass). 2003 Sep;14(5):545-51	Smoking and the risk of lung cancer: susceptibility with GSTP1 polymorphisms.		134660	3030	1	2003	 GSTP1 GG increases the lung cancer risk associated with pack-years of smoking.											
124623		esophageal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Wang LD 2003	12854128				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	north Chinese	China	KGB	2950	Hs.523836			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China.		134660	3031	1	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124617	Y	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Helzlsouer KJ et al. 1998	9539246				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Journal of the National Cancer Institute. 1998 Apr;90(7):512-8	Association between glutathione S-transferase M1 P1 and T1 genetic polymorphisms and development of breast cancer.		134660	3025	1	1998	 Our findings suggest that genetic variability in members of the GST gene family may be associated with an increased susceptibility to breast cancer.											
124619	Y	Lung cancer	CANCER	CAN	Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Wang Y et al. 2003	12660004				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	caucasian	United States	KGB	2950	Hs.523836			Lung cancer (Amsterdam, Netherlands). 2003 Apr;40(1):25-32	Association between glutathione S-transferase p1 polymorphisms and lung cancer risk in Caucasians: a case-control study.		134660	3027	1	2003												
124620		lung adenocarcinoma	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Wang J 2003	14607333				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	chinese	China	KGB	2950	Hs.523836			Cancer letters. 2003 Nov;201(2):185-93	GST genetic polymorphisms and lung adenocarcinoma susceptibility in a Chinese population.		134660	3028	1	2003												
124613	Y	cystic fibrosis.	OTHER	OTH	Liver Diseases|Cystic Fibrosis|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Henrion-Caude A et al. 2002	12297838				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Hepatology (Baltimore, Md). 2002 Oct;36(4 Pt 1):913-7	Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S-transferase P1 polymorphism.		134660	3021	1	2002												
124615		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q13	GSTP1	67107861	67110699		Pae CU et al. 2003	12691788				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Korean		KGB	2950	Hs.523836			Progress in neuro-psychopharmacology & biological psychiatry. 2003 May;27(3):519-23	Association study between glutathione S-transferase P1 polymorphism and schizophrenia in the Korean population.		134660	3023	1	2003												
124616	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	GSTP1	67107861	67110699	n	Adra 1999	10450859	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KCB	2950	Hs.523836			Clinical genetics. 1999 Jun;55(6):431-7			134660	3024	1	1999												
124610	Y	chemotherapy-induced leukemia	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Chromosome Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Allan JM et al. 2001	11553769			coding sequence	Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Proceedings of the National Academy of Sciences of the United States of America. 2001 Sep;98(20):11592-7	Polymorphism in glutathione S-transferase P1 is associated with susceptibility to chemotherapy-induced leukemia.		134660	3018	1	2001		Case:86; Control:414										
124611	N	COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	11	11q13	GSTP1	67107861	67110699	n	Yim JJ et al. 2002	12172904				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Korean	Korea	KGB	2950	Hs.523836			Lung. 2002 ;180(2):119-25	Lack of association between glutathione S-transferase P1 polymorphism and COPD in Koreans.		134660	3019	1	2002												
124612	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q13	GSTP1	67107861	67110699	n	Shepard TF et al. 2000	11097238	I105V			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1267-8	No association between the I105V polymorphism of the glutathione S-transferase P1 gene (GSTP1) and prostate cancer risk: a prospective study.		134660	3020	1	2000												
124605	N	Atopy. airway obstruction. BHR. asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q13	GSTP1	67107861	67110699	n	Fryer 2000	10806136				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KCB	2950	Hs.523836			American journal of respiratory and critical care medicine. 2000 May;161(5):1437-42			134660	3013	1	2000												
124606		Total IgE	IMMUNE	IMM	Bronchial Hyperreactivity|Respiratory Hypersensitivity|Genetic Predisposition to Disease|Inflammation	11	11q13	GSTP1	67107861	67110699		Spiteri 2000	10919500	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Allergy. 2000 ;55 Suppl 61:15-20			134660	3014	1	2000												
124608	Y	metastatic colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis	11	11q13	GSTP1	67107861	67110699		Stoehlmacher J et al. 2002	12072547				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		California	KGB	2950	Hs.523836			Journal of the National Cancer Institute. 2002 Jun;94(12):936-42	Association between glutathione S-transferase P1 T1 and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer.		134660	3016	1	2002	 The GSTP1 Ile(105)Val polymorphism is associated in a dose-dependent fashion with increased survival of patients with advanced colorectal cancer receiving 5-FU/oxaliplatin chemotherapy.											
124601	N	SPT	IMMUNE	IMM	Bronchial Hyperreactivity|Respiratory Hypersensitivity|Genetic Predisposition to Disease|Inflammation	11	11q13	GSTP1	67107861	67110699	n	Spiteri 2000	10919500	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Allergy. 2000 ;55 Suppl 61:15-20			134660	3009	1	2000												
124602	Y	Total IgE. SPT. FEV1	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q13	GSTP1	67107861	67110699	P<0.05	Fryer AA 2000	10806136	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			American journal of respiratory and critical care medicine. 2000 May;161(5):1437-42			134660	3010	1	2000												
124604	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699	n	Hakonarson H 2001	11739132	Ile105Val. A1387G (Ex 5)			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Icelandic	Iceland	KCB	2950	Hs.523836			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			134660	3012	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
124597		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q25.1	GSTO2	106018620	106049166	P=0.005	Li YJ et al 2003	14570706	-183T allele for GSTO2 SNP9		5'promoter	Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			KGB	119391	Hs.203634			Human molecular genetics. 2003 Dec;12(24):3259-67	Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.			6860	1	2003		Case:635 PD; Control:727										
124598		breast cancer; colorectal cancer; liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Cholangiocarcinoma|Breast Neoplasms|Bile Duct Neoplasms|Liver Neoplasms	10	10q25.1	GSTO2	106018620	106049166		Marahatta, S. B.  et al. 2005	15992993				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDPinfo	119391	Hs.203634			Cancer letters. 2005	Polymorphism of glutathione S-transferase Omega gene and risk of cancer.			21627	2	2005												
124599		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	10	10q25.1	GSTO2	106018620	106049166		Arning, L.  et al. 2004	15040808				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDPinfo	119391	Hs.203634			BMC medical genetics [electronic resource]. 2004 Mar;5:7	Glutathione S-Transferase omega 1 variation does not influence age at onset of Huntington's disease			21628	2	2004	 The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.	Control:228:controls;Case:232 patients with Huntington's disease										
124600		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q25.1	GSTO2	106018620	106049166		Ozturk, A.  et al. 2005	15917099				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDPinfo	119391	Hs.203634			Neurobiology of aging. 2005 Aug-Sep;26(8):1161-5	Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease.			21629	2	2005	Additional markers in these genes need to be screened to explore their role in the etiology of AD.	Control:735:controls;Case:990 sporadic late-onset Alzheimer's disease cases										
124593		breast cancer; colorectal cancer; liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Cholangiocarcinoma|Breast Neoplasms|Bile Duct Neoplasms|Liver Neoplasms	10	10q25.1	GSTO1	106004667	106017203		Marahatta, S. B.  et al. 2005	15992993				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDPinfo	9446	Hs.190028			Cancer letters. 2005	Polymorphism of glutathione S-transferase Omega gene and risk of cancer.		605482	10937	2	2005												
124594		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	10	10q25.1	GSTO1	106004667	106017203		Arning, L.  et al. 2004	15040808				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDPinfo	9446	Hs.190028			BMC medical genetics [electronic resource]. 2004 Mar;5:7	Glutathione S-Transferase omega 1 variation does not influence age at onset of Huntington's disease		605482	17033	2	2004	 The GSTO1 and GSTO2 genes flanked by the investigated polymorphisms are not comprised in a primary candidate region influencing AO in HD.	Control:228:controls;Case:232 patients with Huntington's disease										
124595	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Ozturk, A.  et al. 2005	15917099				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDPinfo	9446	Hs.190028			Neurobiology of aging. 2005 Aug-Sep;26(8):1161-5	Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease.		605482	17034	2	2005	Additional markers in these genes need to be screened to explore their role in the etiology of AD.	Control:735:controls;Case:990 sporadic late-onset Alzheimer's disease cases										
124596	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q25.1	GSTO2	106018620	106049166	P=0.005	Li YJ et al 2003	14570706				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			KGB	119391	Hs.203634	Age at onset		Human molecular genetics. 2003 Dec;12(24):3259-67	Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.			6859	1	2003		Case:1773 AD; Control:1041										
124589	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q25.1	GSTO1	106004667	106017203	0.007	Li YJ et al 2003	14570706	SNP7		coding sequence	Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			KGB	9446	Hs.190028	Age at onset		Human molecular genetics. 2003 Dec;12(24):3259-67	Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.		605482	6636	1	2003		Case:1773 AD; Control:1041										
124590	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q25.1	GSTO1	106004667	106017203		Li YJ et al 2003	14570706	SNP7		coding sequence	Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			KGB	9446	Hs.190028	age-at-onset		Human molecular genetics. 2003 Dec;12(24):3259-67	Glutathione S-transferase omega-1 modifiesage-at-onset of Alzheimer disease and Parkinson disease.		605482	6637	1	2003		Case:635 PD; Control:727										
124592	N	thyroid cancer	CANCER	CAN	Adenoma|Carcinoma, Papillary|Thyroid Neoplasms|Thyroid Nodule|Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Granja, F.  et al. 2005	15901998				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDPinfo	9446	Hs.190028			European journal of cancer prevention. 2005 Jun;14(3):277-80	GSTO polymorphism analysis in thyroid nodules suggest that GSTO1 variants do not influence the risk for malignancy.		605482	10936	2	2005	We conclude that  GSTO1 variants do not influence the risk for thyroid nodules or their pathologic and clinical characteristics.	Case:145 patients with thyroid nodules (84 women, 61 men; 17-81 years old; 49+/-14 years old);Control:173 healthy control individuals (87 women, 86 men; 18-81 years old; 47+/-18 years old)										
124586	Y	developing lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM4	110000225	110019431		Liloglou T et al. 2002	12140136				Glutathione S-transferase M4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000850.3			KGB	2948	Hs.348387			Lung cancer (Amsterdam, Netherlands). 2002 Aug;37(2):143-6	A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer.		138333	3008	1	2002	The polymorphism did not demonstrate any associations with tumour type, gender, and age at presentation. This is the first report on the implication of a polymorphism in the GSTM4 gene in lung cancer risk. Further studies are required to investigate the relation of this polymorphism to cancer risk to substantiate these findings.	Control:156 healthy control individuals;Case:163 lung cancer patients										
124587	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM4	110000225	110019431		Liloglou, T.  et al. 2002	12140136	T2517C			Glutathione S-transferase M4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000850.3			CDC GDPinfo	2948	Hs.348387			Lung cancer (Amsterdam, Netherlands). 2002 Aug;37(2):143-6	A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer.		138333	10934	2	2002	The polymorphism did not demonstrate any associations with tumour type, gender, and age at presentation. This is the first report on the implication of a polymorphism in the GSTM4 gene in lung cancer risk. Further studies are required to investigate the relation of this polymorphism to cancer risk to substantiate these findings.	Control:156 healthy control individuals;Case:163 lung cancer patients										
124588	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3	GSTM4	110000225	110019431		John, S.  et al. 2001	11508575				Glutathione S-transferase M4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000850.3			CDC GDPinfo	2948	Hs.348387			The Journal of rheumatology. 2001 Aug;28(8):1752-5	Linkage and association analysis of candidate genes in rheumatoid arthritis		138333	17032	2	2001	 Our results do not provide evidence of a role for these genes in RA susceptibility.	185 multiplex rheumatoid arthritis families 										
124583		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Matthias, C.  et al. 2003	12548461				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		138390	26892	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
124584		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Liu, Y.  et al. 2005	15654505				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Japanese	Japan	CDC GDPinfo	2947	Hs.2006			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		138390	27918	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
124585		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Landi, S.  et al. 2005	16006997				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		138390	28441	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124581		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Brind, A. M.  et al. 2004	15525789				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Nov-Dec;39(6):478-83	The role of polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and A1 in susceptibility to alcoholic liver disease.		138390	24518	2	2004	 We have failed to demonstrate within the limitation of a case-control study a reproducible significant association of GST polymorphisms with susceptibility to ALD but there are suggestions that GSTA1 and GSTT1 warrant further study.	Control normal local controls;Case alcohol-related chronic liver disease patients North Staffordshire, Birmingham and Liverpool										
124582		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	1	1p13.3	GSTM3	110078076	110084656		Matthias, C.  et al. 2002	12063626				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		138390	26891	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
124577	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Medeiros, R.  et al. 2004	14968442				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3		Europe|Portugal	CDC GDPinfo	2947	Hs.2006			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: The role ofglutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms		138390	21625	2	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124578	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Schneider, A.  et al. 2004	15338373				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Journal of gastroenterology. 2004 Aug;39(8):783-7	Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis		138390	21626	2	2004	 We conclude that genetic alterations in the MGST1, GSTM3, GSTT1, and GSTM1 genes do not play a dominant role in hereditary pancreatitis.	Control:183:controls;Case:30 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations to analyzie the entire coding region of MGST1 and GSTM3;Control:55:controls;Case:75/135 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations (n=75) and patients with a PRSS1 mutation (n=135) to analyzie the entire coding region of GSTT1 and GSTM1										
124579		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	1	1p13.3	GSTM3	110078076	110084656		To-Figueras, J.  et al. 2002	12359356				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Cancer letters. 2002 Dec;187(2-Jan):95-101	Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk.		138390	24516	2	2002	These results on larynx cancer tend to confirm a former study on lung cancer (Cancer Lett. 173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers.	Control:203 healthy controls;Case:204 patients with larynx cancer										
124574	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Wikman, H.  et al. 2002	11927838				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		138390	21622	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
124575		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Garcia-Closas, M.  et al. 2005	16112301				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		138390	21623	2	2005			smoking (tobacco)									
124576		oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Buch, S. C.  et al. 2002	12016153				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Indian	India	CDC GDPinfo	2947	Hs.2006			Carcinogenesis. 2002 May;23(5):803-7	Polymorphism at GSTM1, GSTM3 and GSTT1 gene loci and susceptibility to oral cancer in an Indian population.		138390	21624	2	2002	The results suggest that the GSTM1 null genotype is a risk factor for development of oral cancer among Indian tobacco habitues.	Case:297 oral cancer patients;Control:450 healthy controls										
124571		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Juronen, E.  et al. 2000	11040079				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Experimental eye research. 2000 Nov;71(5):447-52	Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.		138390	21619	2	2000	The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.	Control:202:controls;Case:250 glaucoma patients:Estonia										
124572		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Lan, Q.  et al. 2001	11692073				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Polish	Poland	CDC GDPinfo	2947	Hs.2006			Pharmacogenetics. 2001 Nov;11(8):655-61	Glutathione S-transferase genotypes and stomach cancer in a population-based case-control study in Warsaw, Poland		138390	21620	2	2001	These results suggest that the GSTT1 null genotype may be associated with increased risk of stomach cancer.	Case:304 stomach cancer patients:Warsaw, Poland;Control:427 control subjects not otherwise specified										
124573		oral cancer; leukoplakia	CANCER	CAN	Mouth Neoplasms|Leukoplakia	1	1p13.3	GSTM3	110078076	110084656		Sikdar, N.  et al. 2004	14735473				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Indian	India	CDC GDPinfo	2947	Hs.2006			International journal of cancer. Journal international du cancer. 2004 Mar;109(1):95-101	Glutathione S-transferase M3 (A/A) genotype as a risk factor for oral cancer and leukoplakia among Indian tobacco smokers		138390	21621	2	2004	It may be suggested that polymorphisms in GSTP1, GSTM1, GSTM3 and GSTT1 genes regulate risk of cancer and leukoplakia differentially among different tobacco habituals.	Case:109/256 leukoplakia (n=109) and oral cancer (n=256):patients;Control:259:controls	smoking (tobacco)									
124568		lung cancer; hamartomas	CANCER	CAN	Hamartoma|Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Diseases|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Risch, A.  et al. 2001	11740339				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Pharmacogenetics. 2001 Dec;11(9):757-64	Glutathione-S-transferase M1, M3, T1 and P1 polymorphisms and susceptibility to non-small-cell lung cancer subtypes and hamartomas.		138390	21616	2	2001	In conclusion, GST genotypes may act differently, either by detoxifying harmful tobacco carcinogens and/or by eliminating lung cancer chemopreventive agents. The latter role for GSTT1 would explain the observed lower risk of SCC and hamartoma associated with GSTT1 null. Further confirmatory studies are required.	Control:353 hospital control subjects;Case:389 Caucasian lung cancer patients (151 adenocarcinomas and 172 squamous cell carcinomas)										
124569	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	1	1p13.3	GSTM3	110078076	110084656		Flamant, C.  et al. 2004	15115915				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Pharmacogenetics. 2004 May;14(5):295-301	Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.		138390	21617	2	2004	 These data provide the first evidence suggesting that polymorphism of the GSTM3 gene contributes to clinical severity in CF, which may have prognostic significance and could prompt to start a more targeted therapy in young patients with CF.	Cohort 146 children with cystic fibrosis 										
124570		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Fryer, A. A.  et al. 2004	15459020				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Australian	Australia	CDC GDPinfo	2947	Hs.2006			Carcinogenesis. 2005 Jan;26(1):185-91	Polymorphisms in glutathione S-transferases and non-melanoma skin cancer risk in Australian renal transplant recipients.		138390	21618	2	2004	These data confirm our UK findings, suggesting that protection against UVR-induced oxidative stress is important in NMSC development in recipients, but that this effect depends on immunosuppressant regimen.	Cohort 361 Queensland renal transplant recipients Queensland, Australia 										
124565		acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity	UNKNOWN	UNK		1	1p13.3	GSTM3	110078076	110084656		Thier, R.  et al. 2001	11535247				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Mutation research. 2001 Oct;482(2-Jan):41-6	Influence of polymorphisms of the human glutathione transferases and cytochrome P450 2E1 enzyme on the metabolism and toxicity of ethylene oxide and acrylonitrile.		138390	21613	2	2001	The data, therefore, point to a possible influence of a human enzyme polymorphism of the GSTP1 gene at codon 104 on the detoxication of acrylonitrile which calls for experimental toxicological investigation. The study also confirmed the impact of GSTT1 polymorphism on background N-(hydroxyethyl)-valine adduct levels in haemoglobin which are caused by endogenous ethylene oxide.	Cohort 59 persons with industrial handling of low levels of acrylonitrile 	acrylonitrile									
124566		ototoxicity	OTHER	OTH	Osteosarcoma|Hearing Loss, Functional	1	1p13.3	GSTM3	110078076	110084656		Peters, U.  et al. 2000	11081456				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Anti-cancer drugs. 2000 Sep;11(8):639-43	Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin		138390	21614	2	2000	a protective effect was found for the GSTM3*B allele with a frequency of 0.18 in the group with normal hearing after therapy versus 0.025 in the group with hearing impairment. (chi2=5.37; p=0.02).	Control:19 patients with no hearing impairment under comparable doses of the drug;Case:20 patients early and highly sensitive to the ototoxicity of cisplatin	cisplatin									
124567	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Mitrunen, K.  et al. 2001	11303592				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3		Finland	CDC GDPinfo	2947	Hs.2006			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):229-36	Glutathione S-transferase M1, M3, P1, and T1 genetic polymorphisms and susceptibility to breast cancer.		138390	21615	2	2001	Our findings support the view that GST genotypes contribute to the individual breast cancer risk, especially in certain combinations.	Control:482 healthy population controls;Case:483 incident breast cancer cases										
124562		oral cancer; leukoplakia	CANCER	CAN	Leukoplakia, Oral|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Majumder, M.  et al. 2005	16172217				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2106-12	Increased risk of oral leukoplakia and cancer among mixed tobacco users carrying XRCC1 variant haplotypes and cancer among smokers carrying two risk genotypes: one on each of two loci, GSTM3 andXRCC1 (Codon 280).		138390	17031	2	2005				GSTM3		XRCC1	codon 280			Y	tobacco smokers and smokeless tobacco users	oral leukoplakia and cancer
124563	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Sorensen, M.  et al. 2004	15069685				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			International journal of cancer. Journal international du cancer. 2004 Jun;110(2):219-24	Glutathione S-transferase T1 null-genotype is associated with an increased risk of lung cancer.		138390	17047	2	2004	These results suggest that the GSTT1 null-genotype is associated with an increased risk of lung cancer, especially in younger individuals.	Case lung cancer cases:Cohort population based cohort subjects matched on duration of smoking										
124564	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Loktionov, A.  et al. 2001	11408349				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Carcinogenesis. 2001 Jul;22(7):1053-60	Glutathione-S-transferase gene polymorphisms in colorectal cancer patients: interaction betweenGSTM1 and GSTM3 allele variants as a risk-modulating factor.		138390	21612	2	2001	Our findings suggest that interactions of polymorphic genotypes within the GSTM gene cluster affect individual susceptibility to colorectal carcinogenesis, the GSTM3*B variant presence being a risk factor especially in combination with the GSTM1-null genotype.	Case:206 cancer (59 proximal and 147 distal) patients;Control:355 healthy controls										
124559		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	1	1p13.3	GSTM1	110031964	110037890		Watanabe, I.  et al. 2003	12732844				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	CDC GDPinfo	2944	Hs.301961			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138350	28440	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124560	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Medeiros R 2004	14968442				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	European	Europe|Portugal	KGB	2947	Hs.2006			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: the role of glutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms.		138390	3007	1	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124561		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Cortessis, V.  et al. 2001	11289100				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDPinfo	2947	Hs.2006			Cancer research. 2001 Mar;61(6):2381-5	A case-control study of microsomal epoxide hydrolase, smoking, meat consumption, glutathione S-transferase M3, and risk of colorectal adenomas		138390	17029	2	2001	These findings are consistent with causal roles for environmental polycyclic aromatic hydrocarbons and genetically encoded variants in enzymes whose actions lead to the production of activated polycyclic aromatic hydrocarbon metabolites.	Case:464 patients diagnosed with first occurrence of colorectal adenoma;Control:510 matched controls	meat doneness smoking (tobacco)									
124556		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Iwai, N.  et al. 2004	15167446				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	CDC GDPinfo	2944	Hs.301961			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		138350	28051	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
124557		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kiyohara, C.  et al. 2002	12234692				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		138350	28146	2	2002	Review article		smoking (tobacco)									
124558		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Landi, S.  et al. 2005	16006997				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		138350	28411	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124553		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sepehr, A.  et al. 2004	15327835				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	2944	Hs.301961			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		138350	27723	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
124554		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sturgis, E. M.  et al. 2002	11981277				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		138350	27724	2	2002	Review article											
124555		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sachse, C.  et al. 2002	12419832				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		England	CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		138350	28050	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
124550		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Xing, D.  et al. 2003	12883749				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese	China	CDC GDPinfo	2944	Hs.301961			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		138350	27435	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
124551		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	1	1p13.3	GSTM1	110031964	110037890		Krajinovic, M.  et al. 2002	11895912				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		138350	27436	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
124552		cytogenetic studies	OTHER	OTH	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Naccarati, A.  et al. 2005	16043197				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		138350	27437	2	2005												
124547		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	1	1p13.3	GSTM1	110031964	110037890		Bowen, D. T.  et al. 2002	12468438				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		138350	26890	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
124548		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		De Jong, M. M.  et al. 2002	12433710				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		138350	27433	2	2002	Review article											
124549		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wang, X.  et al. 2001	11520401				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		China	CDC GDPinfo	2944	Hs.301961			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		138350	27434	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
124544		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	1	1p13.3	GSTM1	110031964	110037890		de Leon, J.  et al. 2005	16160620				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		138350	26887	2	2005												
124545		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Garte, S.  et al. 2001	11751440				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		138350	26888	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
124546		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	1	1p13.3	GSTM1	110031964	110037890			16393248				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		138350	26889	2	2006			alcohol smoking (tobacco)									
124541		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	1	1p13.3	GSTM1	110031964	110037890		Ishikawa, K.  et al. 2005	15838728				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		138350	26054	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
124542		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	1	1p13.3	GSTM1	110031964	110037890		Murray, J. C.   2002	12030886				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		138350	26055	2	2002	Review article											
124538		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ivashchenko, T. E.  et al. 2003	12760253				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		138350	26051	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
124539		styrene toxicity	UNKNOWN	UNK		1	1p13.3	GSTM1	110031964	110037890		Ma, M.  et al. 2005	16125881				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		138350	26052	2	2005			smoking (tobacco)									
124540		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Figer, A.  et al. 2003	14719475				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		138350	26053	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
124535	Y	cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Leng, S. G.  et al. 2004	15061915				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		138350	26048	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
124537		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Liang, G. Y.  et al. 2004	15640066				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese	China	CDC GDPinfo	2944	Hs.301961			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		138350	26050	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
124532		bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	1	1p13.3	GSTM1	110031964	110037890		Korytina, G. F.  et al. 2005	15928955				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		138350	26045	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
124534		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Leng, S. G.  et al. 2004	15355699				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		138350	26047	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
124529		lymphoma; Hodgkin's disease	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Sarmanova, J.  et al. 2000	11191882				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		138350	26042	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
124531		DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	1	1p13.3	GSTM1	110031964	110037890		Vodicka, P.  et al. 2001	11535253				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		138350	26044	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
124526		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	1	1p13.3	GSTM1	110031964	110037890		Matthias, C.  et al. 2002	12063626				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		138350	26039	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
124527		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Matthias, C.  et al. 2003	12548461				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		138350	26040	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
124528		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Pakakasama, S.  et al. 2005	15981231				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Thailand	CDC GDPinfo	2944	Hs.301961			American journal of hematology. 2005 Jul;79(3):202-5	Polymorphisms of drug-metabolizing enzymes and risk of childhood acute lymphoblastic leukemia.		138350	26041	2	2005												
124524	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Murata, M.  et al. 2001	11275366				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	CDC GDPinfo	2944	Hs.301961			Cancer letters. 2001 Apr;165(2):171-7	Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, CYP2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population		138350	26037	2	2001	This study suggests that the CYP1A1 polymorphism and its combination with GSTM1 may be associated with PCa susceptibility in the Japanese population.	Case not specified in abstract;Control not specified in abstract										
124525	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Li, W. Y.  et al. 2004	15769360				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1042-5	[The relationship between genetic polymorphism of metabolizing enzymes and the genetic susceptibility to lung cancer]		138350	26038	2	2004	 Smoking and GSTM1-null genotype seemed to be the risk factors of lung cancer. Those who carrying GSTM1-null genotype and smoking cigarettes were prone to suffer from lung cancer to become the high-risk population of the disease.	Control:200:controls;Case:217 lung cancer cases	smoking (tobacco)									
124520		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	1	1p13.3	GSTM1	110031964	110037890		Stoehlmacher, J.  et al. 2004	15213713				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		138350	24514	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
124521	N	diabetic neuropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	1	1p13.3	GSTM1	110031964	110037890			15125229				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Molekuliarnaia biologiia. 2004 Mar-Apr;38(2):244-9	[Search for the association of polymorphic markers for genes coding for antioxidant defense enzymes, with development of diabetic polyneuropathies in patients with type 1 diabetes mellitus]		138350	24515	2	2004	On this evidence, these markers were not associated with DPN in the sample examined.	Case:86 patients with type 1 diabetes with polyneuropathy and diabetic record no more than 5 years;Control:94 diabetic patients without polyneuropathy and diabetic record of at least 10 years										
124517		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Haque, A. K.  et al. 2004	15536330				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Applied immunohistochemistry & molecular morphology. 2004 Dec;12(4):315-22	CYP2E1 polymorphism, cigarette smoking, p53 expression, and survival in non-small cell lung cancer: a long term follow-up study.		138350	24511	2	2004	No association was found between survival and tumor type; tumor differentiation; expression of phospho-AKT, p27, and bcl-2; and polymorphic metabolizing genes other than CYP2E1. The significant association of long duration of smoking (>40 years) with loss of p53 expression and poor survival suggests inactivation of the protective p53 pathway in those who had a history of more than 40 years of smoking.	Cohort 87 lung cancer patients 	smoking (tobacco)									
124518		smoking genotoxic effects	UNKNOWN	UNK		1	1p13.3	GSTM1	110031964	110037890		Hoffmann, H.  et al. 2005	16037119				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutagenesis. 2005 Sep;20(5):359-64	Genetic polymorphisms and the effect of cigarette smoking in the comet assay.		138350	24512	2	2005												
124519		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	1	1p13.3	GSTM1	110031964	110037890		Harms, C.  et al. 2004	15199549				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		138350	24513	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
124514		exposure to 1,3-butadiene	PHARMACOGENOMIC	PHARM		1	1p13.3	GSTM1	110031964	110037890		Fustinoni, S.  et al. 2002	12376511				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1082-90	Influence of metabolic genotypes on biomarkers of exposure to 1,3-butadiene in humans.		138350	24508	2	2002	Our results indicate that the THBVal level is influenced by genotypes, and that the analysis of combined polymorphisms may be the key to a better understanding of the role played by polymorphism of BD-metabolizing enzymes.	Control:10:clerks;Case:30 Italian 1,3-butadiene-exposed workers										
124516		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic|DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Dirksen, U.  et al. 2003	14681495				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pediatric research. 2004 Mar;55(3):466-71	Glutathione S transferase theta 1 gene (GSTT1) null genotype is associated with an increased risk for acquired aplastic anemia in children.		138350	24510	2	2003	In no combinations of the mentioned parameters was an association found with acquired aplastic anemia. GST are mainly involved in metabolizing hematotoxic and mutagenic substrates such as benzene derivatives. The GSTT1 null genotype may modulate the metabolism of exogenous pollutants or toxic intermediates. The absence of the GSTT1 enzyme, leading to genetic susceptibility toward certain pollutants, might determine the individual risk for development of acquired aplastic anemia in children.	Control:controls;Case individuals with acquired aplastic anemia										
124511		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Turner, F.  et al. 2004	15352038				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Great Britain	CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		138350	24505	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
124513		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sierra-Torres, C. H.  et al. 2003	12552594				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Environmental and molecular mutagenesis. 2003 ;41(1):69-76	Polymorphisms for chemical metabolizing genes and risk for cervical neoplasia		138350	24507	2	2003	Further studies using larger populations will be needed to confirm our observations and to validate data for disease prevention.	Control:75 matched healthy controls;Case:76 cases with high-grade cervical neoplasia or with invasive cervical cancer	smoking (tobacco)									
124508		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wang, L. D.  et al. 2003	12854128				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		China	CDC GDPinfo	2944	Hs.301961			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study ofpopulation from a high- incidence area in north China.		138350	24502	2	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124509	Y	cytogenetic studies	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Lodovici, M.  et al. 2004	15298956				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1342-8	Benzo(a)pyrene Diolepoxide (BPDE)-DNA Adduct Levels in Leukocytes of Smokers in Relation to Polymorphism of CYP1A1, GSTM1, GSTP1, GSTT1, and mEH		138350	24503	2	2004	In conclusion, CYP1A1, GSTM1, and GSTP1 genotyping seems to be a risk predictor of BPDE-DNA adduct formation in leukocytes.	Cohort 41 healthy smokers 	smoking (tobacco)									
124505		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sandford, A. J.  et al. 2002	12149538				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		138350	24499	2	2002	Review article		smoking (tobacco)									
124507		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Casson, A. G.  et al. 2003	12670526				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer detection and prevention. 2003 ;27(2):139-46	Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma.		138350	24501	2	2003	We conclude that  polymorphisms of GSTP1 and mEH may be implicated in individual susceptibility to esophageal adenocarcinoma, possibly as a result of increased Phase I activation (mEH) and impaired Phase II detoxification (GSTP1). GSTT1 may also play a role in esophageal tumorigenesis through a pathway that involves abnormalities in the p53 tumor suppressor gene.	Case:45 patients with surgically resected esophageal:adenocarcinomas;Control:45 healthy controls from the same geographic region matched for age, gender and smoking history										
124503		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Nam, R. K.  et al. 2003	14693733				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		138350	24497	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
124504		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Demichele, A.  et al. 2005	16110016				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of clinical oncology. 2005 Aug;23(24):5552-9	Drug-metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohort.		138350	24498	2	2005	 Combined genotypes at CYP3A4, CYP3A5, GSTM1, and GSTT1 influence the probability of treatment failure after high-dose adjuvant chemotherapy for node-positive breast cancer.		anthracycline chemotherapy									
124500		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Mathonnet, G.  et al. 2003	14510941				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Canada	CDC GDPinfo	2944	Hs.301961			British journal of haematology. 2003 Oct;123(1):45-8	Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.		138350	24494	2	2003	This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.	Case:287 French-Canadian children with acut lymphoblastic:leukemia;Control:320 French-Canadian healthy controls										
124501		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Li, D.  et al. 2002	11719088				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		138350	24495	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
124497		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Krajinovic, M.  et al. 2001	11291049				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Canadian	Canada|France	CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		138350	24491	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
124499		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	1	1p13.3	GSTM1	110031964	110037890		You, W. C.  et al. 2005	15734972				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese		CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		138350	24493	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)									
124495		intrauterine growth	REPRODUCTION	REP		1	1p13.3	GSTM1	110031964	110037890		Yamada, H.  et al. 2004	14665706				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Molecular human reproduction. 2004 Jan;10(1):49-53	A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.		138350	24489	2	2004	The polymorphism of CYP17 that encodes the cytochrome P450c17alpha enzyme might be associated with the pathophysiology underlying fetal growth restriction.	Cohort 134 women who experienced singleton deliveries beyond 24 weeks gestation 										
124496		sex hormones	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ko, Y.  et al. 2001	11389067				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		138350	24490	2	2001	The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.	Case smoking cases;Control smoking controls	smoking (tobacco)									
124491		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Komiya, Y.  et al. 2004	15616829				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese		CDC GDPinfo	2944	Hs.301961			Journal of cancer research and clinical oncology. 2005 Apr;131(4):238-42	Human glutathione S-transferase A1, T1, M1, and P1 polymorphisms and susceptibility to prostate cancer in the Japanese population		138350	21610	2	2004	 These findings suggest that the GSTA1 and GSTT1 polymorphisms are associated with prostate cancer susceptibility, especially among smokers.	Case:190 Japanese male patients with prostate cancer;Control:294 healthy controls, frequency-matched for age	smoking (tobacco)									
124493	Y	breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Dialyna, I. A.  et al. 2001	11408954				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			International journal of molecular medicine. 2001 Jul;8(1):79-87	Genetic polymorphisms and transcriptional pattern analysis of CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes in breast cancer.		138350	24487	2	2001	Genotyping analysis did not show any correlation to breast cancer risk. However, RT-PCR analysis provided evidence that CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes are frequently deregulated in breast cancer and could be used as molecular biomarkers for better clinical management of such patients, with respect to chemotherapy.	Control:171 age and sex matched controls;Case:207 female breast cancer patients										
124488	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Yang, P.  et al. 2004	15192016				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2004 Oct;25(10):1935-44	Glutathione pathway genes and lung cancer risk in young and old populations.		138350	21607	2	2004	Results from logistic regression analyses supported the results from RPART models. GSH pathway genes are associated with lung cancer development in young and old populations through differing interactions with cigarette smoking and family history. Carefully evaluating multiple levels of gene-environment and gene-gene interactions is critical in assessing lung cancer risk.	Control:234 controls (165 young, 69 old) consecutively enrolled at the Mayo Clinic;Case:237 primary lung cancer patients (170 young, 67 old) consecutively enrolled at the Mayo Clinic:US:1997-2001	smoking (tobacco)									
124490		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890			16365014				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2943-51	GSTP1 and GSTA1 polymorphisms interact with cruciferous vegetable intake in colorectal adenoma risk		138350	21609	2	2005			diet									
124486		cytogenetic studies	OTHER	OTH	Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Pavanello, S.  et al. 2004	15471894				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2005 Jan;26(1):169-75	Reduced nucleotide excision repair and GSTM1-null genotypes influence anti-B[a]PDE-DNA adduct levels in mononuclear white blood cells of highly PAH-exposed coke oven workers.		138350	21605	2	2004	The modulation of anti-B[a]PDE-DNA adducts in the LMF by GSTM1-null and some low-activity NER genotypes may be considered as a potential genetic susceptibility factor capable of modulating individual responses to PAH (B[a]P) genotoxic exposure and the consequent risk of cancer in coke oven workers.	Cohort 67 Polish coke overn workers 	polycyclic aromatic hydrocarbons smoking (tobacco)									
124487		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Skuladottir, H.  et al. 2005	15829318				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Denmark|Norway	CDC GDPinfo	2944	Hs.301961			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		138350	21606	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
124483		liver cancer	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Kirk, G. D.  et al. 2005	15734960				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Gambia	CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):373-9	Hepatocellular carcinoma and polymorphisms in carcinogen-metabolizing and DNA repair enzymes in a population with aflatoxin exposure and hepatitis B virus endemicity.		138350	21602	2	2005	Our findings suggest that genetic modulation of carcinogen metabolism and DNA repair can alter susceptibility to HCC and that these effects may be modified by environmental factors.	Case:216 hepatocellular cancer cases Gambia, West Africa;Control:408 frequency-matched controls with no clinically apparent liver disease	peanuts									
124484		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Sarmanova, J.  et al. 2004	15280903				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			European journal of human genetics. 2004 Oct;12(10):848-54	Breast cancer: role of polymorphisms inbiotransformation enzymes		138350	21603	2	2004	In conclusion, the results suggest that genetic polymorphisms in biotransformation enzymes may play a significant role in the development of breast cancer.	Case:238 patients with breast cancer;Control:313 healthy individuals										
124481		DNA damage	OTHER	OTH	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Buschini, A.  et al. 2003	12717779				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Environmental and molecular mutagenesis. 2003 ;41(4):243-52	Genetic polymorphism of drug-metabolizing enzymes and styrene-induced DNA damage.		138350	21600	2	2003	The field survey confirms that styrene exposure is associated with increased DNA damage and indicates a modulating role for GSTM1 and GSTT1 genotypes. In vitro experiments suggest that the extent of SO-induced DNA strand breaks depends, at least in part, on interindividual differences in GSH-conjugation capabilities.	Control:14 unexposed healthy controls;Case:48 worders exposed to styrene	styrene									
124482	Y	cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Leng, S.  et al. 2004	15466980				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1631-9	Effects of Genetic Polymorphisms of Metabolic Enzymes on Cytokinesis-Block Micronucleus in Peripheral Blood Lymphocyte among Coke-Oven Workers		138350	21601	2	2004	These results indicate that the mEH, GSTP1, and GSTM1 polymorphisms may play a role in sensitivity or genetic susceptibility to the genotoxic effects of PAH exposure in the coke-oven workers.	Case:141 coke-oven workers;Control:66 non-coke-oven worker controls	polycyclic aromatic hydrocarbons									
124477		aflatoxin-albumin	OTHER	OTH	Carcinoma, Hepatocellular|Liver Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Wojnowski, L.  et al. 2004	15454734				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Gambian	Gambia	CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2004 Oct;14(10):691-700	Increased levels of aflatoxin-albumin adducts are associated with CYP3A5 polymorphisms in The Gambia, West Africa		138350	21596	2	2004	 The CYP3A5 polymorphism is associated with increased levels of the mutagenic AFB1-exo-8,9-epoxide, particularly in individuals with low CYP3A4, and this may modulate individual risk of HCC.	Cohort 288 Gambian subjects 										
124478		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Lai, M. T.  et al. 2005	16018936				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	CDC GDPinfo	2944	Hs.301961			Urologic oncology. 2005 Jul-Aug;23(4):225-9	Glutathione S-transferase M1 gene but not insulin-like growth factor-2 gene or epidermal growth factor gene is associated with prostate cancer.		138350	21597	2	2005												
124479		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Habalova, V.  et al. 2004	15640939				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Neoplasma. 2004 ;51(5):352-7	Combined analysis of polymorphisms in glutathione S-transferase M1 and microsomal epoxide hydrolase in lung cancer patients		138350	21598	2	2004	Polymorphism in GSTM1 had no statistically significant impact on lung cancer risk. However, obtained results revealed that combinations GSTM1 null with homozygote His113/His139 EPHX1 genotype significantly increased lung cancer risk	Case:121 lung cancer patients;Control:150:controls	smoking (tobacco)									
124474		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Salama, S. A.  et al. 2002	12355548				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Environmental and molecular mutagenesis. 2002 ;40(3):153-60	Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers.		138350	21593	2	2002	Since the analysis of genetic susceptibility factors is still in its infancy, our study may stimulate additional investigations to understand the roles of genetic susceptibility and cigarette smoking in AR.	Case:120 atherosclerosis patients;Control:90 matched controls	smoking (tobacco)									
124475		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	1	1p13.3	GSTM1	110031964	110037890		Dufour, C.  et al. 2005	16079101				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDPinfo	2944	Hs.301961			Haematologica. 2005 Aug;90(8):1027-31	Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients.		138350	21594	2	2005	 The low/null activity polymorphisms of the detoxifying enzymes CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 are not associated with the risk of developing aplastic anemia or to the response to immunosuppressive therapy in Caucasian patients.											
124471		sulphamethoxazole hypersensitivity	PHARMACOGENOMIC	PHARM	HIV Seropositivity|Hypersensitivity	1	1p13.3	GSTM1	110031964	110037890		Pirmohamed, M.  et al. 2000	11186133				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2000 Nov;10(8):705-13	Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity		138350	21590	2	2000	Our results show that genetic polymorphisms in drug metabolizing enzymes are unlikely to be major predisposing factors in determining individual susceptibility to co-trimoxazole hypersensitivity in HIV-positive patients.	Case:56 HIV-positive patients with SMX hypersensitivity;Control:89 HIV-positive patients without SMX hypersensitivity	co-trimoxazole									
124472		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	1	1p13.3	GSTM1	110031964	110037890		Chernajovsky, Y.  et al. 2002	12421093				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		138350	21591	2	2002	Review article											
124473		benzene toxicity	METABOLIC	MET	Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wan, J.  et al. 2002	12460800				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Environmental health perspectives. 2002 Dec;110(12):1213-8	Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.		138350	21592	2	2002	Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.	Control:152 workers occupationally exposed to benzene;Case:156 benezene-poisoning patients South China	alcohol smoking (tobacco)									
124468		DNA adducts	OTHER	OTH	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Brockstedt, U.  et al. 2002	11943609				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		138350	21587	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 										
124469		longevity	AGING	AGE	Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Pesch, B.  et al. 2004	15177664				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Germany	CDC GDPinfo	2944	Hs.301961			Toxicology letters. 2004 Jun;151(1):283-90	Polymorphic metabolic susceptibility genes and longevity: a study in octogonarians.		138350	21588	2	2004	Polymorphic metabolic susceptibility genes could become relevant for processes of aging when toxic defense mechanisms decline.	Case:205:octogenarians;Control:294 non-cancer persons aged less than 80 years										
124466		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Duell, E. J.  et al. 2002	12183419				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer research. 2002 Aug;62(16):4630-6	A Population-based Study of the Arg399Gln Polymorphism in X-Ray Repair Cross- Complementing Group 1 (XRCC1) and Risk of Pancreatic Adenocarcinoma		138350	21585	2	2002	Our results suggest that the XRCC1 399Gln allele is a potentially important determinant of susceptibility to smoking-induced pancreatic cancer. Our findings, including stronger associations and interactions among women, require replication in additional study populations.	Case:309 cases of pancreatic adenocarcinoma San Francisco Bay Area, California:1994-2001;Control:964:controls	obesity smoking (tobacco)									
124467		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Noda, N.  et al. 2004	15375499				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Oncology reports. 2004 Oct;12(4):773-9	Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms.		138350	21586	2	2004	In conclusion, these findings suggest that K-ras mutations in smokers with lung adenocarcinoma may be due in part to accumulation of carcinogens, which is not adequately detoxified in individuals with certain CYP1A1 genotypes and the GSTM1(-) genotype.	Cohort 167/246 patients with lung squamous cell carcinoma (n=167) and lung adenocarcinoma (n=246) 	smoking (tobacco)									
124463		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890			12018173				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Genetika. 2002 Apr;38(4):539-45	[Polymorphic genes of xenobiotic-metabolizing enzymes associated with bronchial asthma in genetically predisposed children]		138350	21582	2		The results obtained suggest an important role of xenobiotic-metabolizing enzymes in development of bronchial asthma.	Case children with bronchial asthma;Control healthy children	smoke (tobacco), passive									
124465		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sunaga, N.  et al. 2002	12163326				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):730-8	Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility.		138350	21584	2	2002	The result indicates that the NQO1-Pro/Pro and GSTT1-null genotypes are risk factors for lung adenocarcinoma development, and that the genetic factors for susceptibility to adenocarcinoma are different from those to squamous cell carcinoma. The enhanced risk of the NQO1-Pro/Pro genotype combined with the GSTT1-null genotype was more evident in smokers than in nonsmokers. Therefore, carcinogens in tobacco smoke, which are activated by NQO1 and detoxified by GSTT1, could have a role in lung adenocarcinoma development.	Control:152 control subjects;Case:198 patients with lung cancer	smoking (tobacco)									
124460		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Pisani, P.  et al. 2002	11917213				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			European journal of cancer prevention. 2002 Feb;11(1):75-84	Cooking methods, metabolic polymorphisms and colorectal cancer		138350	21579	2	2002	Review article		diet smoking (tobacco)									
124461		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p13.3	GSTM1	110031964	110037890		Kerridge, I.  et al. 2002	12139735				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		138350	21580	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
124462		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Lincz, L. F.  et al. 2004	15136237				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Australian		CDC GDPinfo	2944	Hs.301961			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		138350	21581	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
124457		colorectal cancer; esophageal cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Liu, S. Z.  et al. 2004	15552037				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Yi chuan xue bao. 2004 Oct;31(10):1045-52	[Detecting genetic polymorphisms of CYP1 A1 and GSTM1 simultaneously with oligonucleotide microarray]		138350	21576	2	2004	Of 84 cases, 47.6% were calssified as GSTM1 null, close to the published data. It's interesting that there lack three genotypes of m1 -m2 locus in the	Cohort 84 healthy unrelated volunteers 										
124458		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890			16318816				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Nov;43(22):1467-70	[Polymorphism of metabolic gene and genetic susceptibility to prostate cancer.]		138350	21577	2	2005	 GSTM1 [null] genotype may be linked to prostate caner risk in Chinese population. GSTM1 [null] genotype was also related to the stage and grade, which may be helpful in determining the risk of locally disease and advanced PC.											
124459	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kim, Y. J.  et al. 2005	15734083				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			European journal of obstetrics, gynecology, and reproductive biology. 2005 Mar;119(1):42-6	Oxidative stress-related gene polymorphism and the risk of preeclampsia.		138350	21578	2	2005	 Polymorphisms in the oxidative stress-related genes (CYP1A1, GSTM1, GSTT1, MPO, MnSOD) do not seem to be risk factors for preeclampsia.	Case:121 preeclampsia patients;Control:214 healthy controls with an uncomplicated obstetric:history										
124454	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Xue, K.  et al. 2001	11295132				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese		CDC GDPinfo	2944	Hs.301961			Zhonghua yi xue yi chuan xue za zhi. 2001 Apr;18(2):125-7	[Polymorphisms of the CYP1A1 and GSTM1 genes and their combined effects on individual susceptibility to lung cancer in a Chinese population]		138350	21573	2	2001	 There is a synergy of susceptible genotypes GSTM1 0/0 and CYP1A1 Val/Val or CYP1A1 Ile/Val to enhance the individual susceptibility to lung cancer.	Case:106 patients with lung cancer;Control:106 paired non-cancer control persons										
124456		lung cancer	CANCER	CAN	Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Wang, B. G.  et al. 2004	15059326				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Feb;26(2):93-7	[A case control study on the impact of CYP450 MSPI and GST-M1 polymorphisms on the risk of lung cancer]		138350	21575	2	2004	 The combination of two genetic polymorphisms significantly increases the risk of lung cancer.	Control:138:controls;Case:91 lung cancer cases:Guangzhou										
124451		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Moore, L. E.  et al. 2004	15219943				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Argentina	CDC GDPinfo	2944	Hs.301961			Cancer letters. 2004 Aug;211(2):199-207	Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina.		138350	21570	2	2004	The MTHFR 677 CT and TT polymorphisms appeared protective against bladder cancer.	Case:106 bladder cancer cases;Control:109:controls	smoking (tobacco)									
124452	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Dresler, C. M.  et al. 2000	11137199				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Lung cancer (Amsterdam, Netherlands). 2000 Dec;30(3):153-60	Gender differences in genetic susceptibility for lung cancer.		138350	21571	2	2000	These data suggest that polymorphisms in CYP1A1 and GSTM1 contribute to the increased risk of females for lung cancer.	Control:163:controls;Case:180 Surgical patients with a diagnosis of lung cancer	smoking (tobacco)									
124453		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Larsen, J. E.  et al. 2005	16195240				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2005	CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.		138350	21572	2	2005			smoking (tobacco)									
124448		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Ceschi, M.  et al. 2005	15845652				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese	Singapore|China	CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2005 Aug;26(8):1457-64	The effect of cyclin D1 (CCND1) G870A-polymorphism on breast cancer risk is modified by oxidative stress among Chinese women in Singapore.		138350	21567	2	2005	The AA genotype did not affect breast cancer risk. The results of this study are compatible with the hypothesis that the oxidant-antioxidant balance in cells is an important determinant of the direction of the cyclin D1 effect, leading either to cell proliferation or cell death.	Case:258 breast cancer cases nested into the Singapore Chinese Health Study;Control:670 female cohort controls nested into the Singapore Chinese Health Study										
124449	N	cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD	OTHER	OTH	Respiratory Tract Infections|Cystic Fibrosis|Chronic Disease	1	1p13.3	GSTM1	110031964	110037890			15125256				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Russia	CDC GDPinfo	2944	Hs.301961			Genetika. 2004 Mar;40(3):401-8	[Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases]		138350	21568	2	2004	In patients with chronic obstructive pulmonary disease (COPD), the frequencies of the GSTM1 and GSTP1 genotype combinations virtually did not differ from those in the control group suggesting that COPD severity is not related to changes in activities of glutathione S-transferases M1 and P1.	Control:controls;Case patients with cystic fibrosis and chronic bronchopulmonary diseases:Bashkortostan										
124445		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	1	1p13.3	GSTM1	110031964	110037890		Tuimala, J.  et al. 2002	12082022				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Hungary	CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		138350	21564	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
124446		pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease	1	1p13.3	GSTM1	110031964	110037890		Rahman, S. H.  et al. 2004	15131792				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Gastroenterology. 2004 May;126(5):1312-22	Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis		138350	21565	2	2004	 The functional GSTT-1*A genotype was associated with severe attacks of pancreatitis. Heightened oxidative stress characterized by glutathione depletion may be of importance in mediating the progression from mild to severe pancreatitis.	Control:263:controls;Case:320 patients with acute pancreatitis										
124447		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	1	1p13.3	GSTM1	110031964	110037890		Rahman, S. H.  et al. 2005	16047490				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Digestive diseases and sciences. 2005 Jul;50(7):1376-83	Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress andimpaired antioxidant capacity.		138350	21566	2	2005	We conclude that  the GSTT-1 functional genotype is associated with ICP. Evidence of altered glutathione redox status suggests that this disease modification may be a consequence of oxidative stress or the bioactivation of xenobiotics.											
124443		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Bonner, M. R.  et al. 2005	15781210				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2005 Apr;582(2-Jan):53-60	Green tea consumption, genetic susceptibility, PAH-rich smoky coal, and the risk of lung cancer.		138350	21562	2	2005	Among GSTM1 null homozygotes, those who consumed green tea daily had a non-significant reduction in risk compared with non-consumers. Green tea consumption had no effect among OGG1 Ser(326) homozygotes or GSTM1 carriers. In addition, AKR1C3 genotype did not modulate the effect of green tea consumption. The chemopreventive effects of green tea in this population may be restricted to individuals who are particularly susceptible to oxidative stress and oxidative DNA damage.	Case:122 lung cancer cases;Control:122:controls	green tea									
124444		Hodgkin's disease	CANCER	CAN	Hodgkin Disease	1	1p13.3	GSTM1	110031964	110037890		Hohaus, S.  et al. 2003	12960134				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Clinical cancer research. 2003 Aug;9(9):3435-40	Association between glutathione S-transferase genotypes and Hodgkin's lymphoma risk and prognosis.		138350	21563	2	2003	 The GSTT1-null genotype may increase the risk for HL and is associated with favorable prognostic factors, and the presence of at least one GST deletion indicates an improved disease-free survival.	Control:176 normal blood donors;Case:90 patients with Hodgkin's lymphoma										
124439		soft tissue sarcoma	UNKNOWN	UNK	Sarcoma	1	1p13.3	GSTM1	110031964	110037890		Berwick, M.  et al. 2004	15459223				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of clinical oncology. 2004 Oct;22(19):3997-4001	Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma.		138350	20211	2	2004	 Further study of the role of the AhR polymorphism is warranted.	Cohort 120 newly diagnosed patients with soft tissue sarcoma 										
124440		maternal microchimerism	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Berry, S. M.  et al. 2004	15128924				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		138350	21559	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
124441		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Covolo, L.  et al. 2005	16132793				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Italian		CDC GDPinfo	2944	Hs.301961			Cancer causes & control. 2005 Sep;16(7):831-8	Alcohol dehydrogenase 3, glutathione S-transferase M1 and T1 polymorphisms, alcohol consumption and hepatocellular carcinoma (Italy).		138350	21560	2	2005	 ADH3(1-1) and GSTT1 null genotypes did not modify the risk of HCC due to alcohol intake whereas an influence of GSTM1 null genotype for high ethanol consumption was suggested.		alcohol									
124436	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Matsuzoe, D.  et al. 2001	11470766				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2001 Aug;22(8):1327-30	Glutathione S-transferase mu1 null genotype is associated with K-ras gene mutation in lung adenocarcinoma among smokers		138350	19715	2	2001	These findings suggest that the cause of K-ras gene mutation in smokers with lung adenocarcinoma may be in part an accumulation of BP diol epoxide which is not well detoxified in individuals with the GSTM1 null genotype.	Case:312 193 adenocarcinomas and 119 squamous cell carcinomas of lung	smoking (tobacco)									
124437		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Recurrence	1	1p13.3	GSTM1	110031964	110037890		Rocha, J. C.  et al. 2005	15713801				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Blood. 2005 Jun;105(12):4752-8	Pharmacogenetics of outcome in children with acute lymphoblastic leukemia.		138350	20050	2	2005	Polymorphisms interact to influence antileukemic outcome, and represent determinants of response that can be used to optimize therapy.	Cohort 246 children, 116 treated on the lower-risk (LR) and 130 on the higher-risk (HR) arms of a St. Jude protocol 	chemotherapy									
124438		global gene expression	OTHER	OTH	Leukemia, Lymphocytic, Acute	1	1p13.3	GSTM1	110031964	110037890		French, D.  et al. 2005	15857854				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Human molecular genetics. 2005 Jun;14(12):1621-9	Global gene expression as a function of germline genetic variation.		138350	20103	2	2005												
124433		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Tiemersma, E. W.  et al. 2004	15090717				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Dutch	Netherlands	CDC GDPinfo	2944	Hs.301961			Cancer causes & control. 2004 Apr;15(3):225-36	Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population.		138350	18517	2	2004	 In this Dutch population, unfavorable meat consumption and preparation habits did not increase colorectal adenoma risk, and these associations were not influenced by relevant genetic polymorphisms.	Case:431 adenoma cases The Netherlands;Control:433 polyp-free controls	meat									
124434		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Hel, O. L.  et al. 2005	16049806				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Netherlands	CDC GDPinfo	2944	Hs.301961			Cancer causes & control. 2005 Aug;16(6):675-81	Cumulative genetic defects in carcinogen metabolism may increase breast cancer risk (The Netherlands).		138350	18522	2	2005			smoking (tobacco)	GSTM123		GSTT123		NAT123		Y	smoking (tobacco)	Breast cancer
124435		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	1	1p13.3	GSTM1	110031964	110037890		Kim, E. J.  et al. 2005	15667866				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Korea	CDC GDPinfo	2944	Hs.301961			Urology. 2005 Jan;65(1):70-5	Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome ofbladder cancer.		138350	18752	2	2005	 Our data collectively suggest that these genetic polymorphisms may be useful as prognostic markers for bladder cancer in the clinical setting.	Control:153 control subjects;Case:153 patietns with primary bladder cancer										
124431	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Yanchina, E. D.  et al. 2004	15085249				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Bulletin of experimental biology and medicine. 200	Gene-gene interactions between glutathione-s transferase M1 and matrix metalloproteinase 9 in the formation of hereditary predisposition to chronic obstructive pulmonary disease.		138350	18330	2	2004	The combination of glutathione-S transferase M1 genotype 0/0 and matrix metalloproteinase 9 mutant allele (-15621) is a risk factor for chronic obstructive pulmonary disease (OR-7.7).	Cohort Patients with chronic obstructive pulmonary disease 		GSTM1	deletion	MMP9	-1562T			Y		chronic obstructive pulmonary disease/COPD
124432	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Hou, S. M.  et al. 2001	11219770				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2001 Feb;10(2):133-40	Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.		138350	18504	2	2001	These findings suggest that the influence of NAT2 genotype on AL and MF and its interaction with GSTM1 genotype may be dose dependent. The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.	Control:152/144 controls (n=152, 155 ever smokers and 154 never smokers) analyzed for the HPRT mutant frequency and controls analyzed for aromatic DNA adduct level (n=144, 113 current/recent smokers and 201 former/never smokers);Case:157/170 cases of lung cancer analyzed for the HPRT mutant frequency (n=157) and cases of lung cancer analyzed for aromatic DNA adduct level (n=170)	smoking (tobacco)									
124429	Y	solar keratosis	UNKNOWN	UNK	Keratosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Carless, M. A.  et al. 2002	12485442				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Australian	Australia	CDC GDPinfo	2944	Hs.301961			The Journal of investigative dermatology. 2002 Dec;119(6):1373-8	The GSTM1 null genotype confers an increased risk for solar keratosis development in an Australian Caucasian population.		138350	17059	2	2002	Overall, glutathione-S-transferase M1 conferred a significant increase in risk of solar keratoses development, particularly in the presence of high outdoor exposure and synergistically with known phenotypic risk factors of fair skin and inability to tan.	Cohort volunteers involved in the Nambour Skin Cancer Prevention Trial Australia 	solar injury									
124430	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Schneider, A.  et al. 2004	15338373				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of gastroenterology. 2004 Aug;39(8):783-7	Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis		138350	18260	2	2004	 We conclude that genetic alterations in the MGST1, GSTM3, GSTT1, and GSTM1 genes do not play a dominant role in hereditary pancreatitis.	Control:183:controls;Case:30 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations to analyzie the entire coding region of MGST1 and GSTM3;Control:55:controls;Case:75/135 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations (n=75) and patients with a PRSS1 mutation (n=135) to analyzie the entire coding region of GSTT1 and GSTM1										
124425		oral cancer; leukoplakia	CANCER	CAN	Mouth Neoplasms|Leukoplakia	1	1p13.3	GSTM1	110031964	110037890		Sikdar, N.  et al. 2004	14735473				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Indian	India	CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2004 Mar;109(1):95-101	Glutathione S-transferase M3 (A/A) genotype as a risk factor for oral cancer and leukoplakia among Indian tobacco smokers		138350	17044	2	2004	It may be suggested that polymorphisms in GSTP1, GSTM1, GSTM3 and GSTT1 genes regulate risk of cancer and leukoplakia differentially among different tobacco habituals.	Case:109/256 leukoplakia (n=109) and oral cancer (n=256):patients;Control:259:controls	smoking (tobacco)									
124426		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Zubowska, M.  et al. 2004	15738600				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Medycyna wieku rozwojowego. 2004 Apr-Jun;8(2 Pt 1):245-57	[Increased frequency of A-G transition at exon 5 of GSTP1 as a genetic risk factor for acute childhood leukaemia]		138350	17053	2	2004	 transition in exon 5 of GSTP1 gene (alone or combined with GSTM1 deletion) may be one of the molecular predictors of higher susceptibility to acute leukaemia in children. but not of the clinical course of this disease.	Control:460 healthy controls;Case:86 children with newly diagnosed acute leukaemia										
124427		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Garcia-Closas, M.  et al. 2005	16112301				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		138350	17054	2	2005			smoking (tobacco)									
124422		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Lan, Q.  et al. 2001	11692073				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Polish	Poland	CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2001 Nov;11(8):655-61	Glutathione S-transferase genotypes and stomach cancer in a population-based case-control study in Warsaw, Poland		138350	17037	2	2001	These results suggest that the GSTT1 null genotype may be associated with increased risk of stomach cancer.	Case:304 stomach cancer patients:Warsaw, Poland;Control:427 control subjects not otherwise specified										
124424	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Nazar-Stewart, V.  et al. 2003	12781423				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Washington	CDC GDPinfo	2944	Hs.301961			Lung cancer (Amsterdam, Netherlands). 2003 Jun;40(3):247-58	A population-based study of glutathione S-transferase M1, T1 and P1 genotypes and risk for lung cancer.		138350	17043	2	2003	These results support previous reports that the GSTM1 null genotype is associated with a modest increase in risk for lung cancer, particularly among heavy smokers, suggest no role for GSTT1 and the need for further study of GSTP1.	Case:274 males identified from 1993 to 1996 through the Fred Hutchinson Cancer Research Center Cancer Surveillance System registry western Washington State;Control:501 male age-matched controls selected by random-digit:dialing	smoking (tobacco)	GSTM1	null	GSTP1				Y	heavy smoking (tobacco)	lung cancer
124419		mountain sickness	OTHER	OTH	Acute Disease|Genetic Predisposition to Disease|Altitude Sickness	1	1p13.3	GSTM1	110031964	110037890		Jiang, C. Z.  et al. 2005	16124895				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Jun;23(3):188-90	[Glutathione S-transferase M1, T1 genotypes and the risk of mountain sickness]		138350	17028	2	2005	 Genetic polymorphisms of glutathione S-transferase M1, T1 may be the risk factors in the development of mountain sickness.			GSTM1	negative	GSTT1	negative			Y		mountain sickness
124420		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Medeiros, R.  et al. 2004	14968442				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Europe|Portugal	CDC GDPinfo	2944	Hs.301961			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: The role ofglutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms		138350	17030	2	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124421	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Juronen, E.  et al. 2000	11040079				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Experimental eye research. 2000 Nov;71(5):447-52	Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.		138350	17035	2	2000	The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.	Control:202:controls;Case:250 glaucoma patients:Estonia										
124416		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Peng, D. X.  et al. 2003	12754129				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Di yi jun yi da xue xue bao. 2003 May;23(5):458-9, 462	[Association between glutathione S-transferase M1 gene deletion and genetic susceptibility to endometriosis]		138350	17025	2	2003	 GSTM1 gene deletion might bea risk factor for endometriosis in women of Han nationality who are native residents in Guangdong Province.	Case:76 patients with endometriosis Guangdong Province, China;Control:80 controls (surgical patients for gynecological problems other than endometriosis)										
124418	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Deng, Z. L.  et al. 2004	15634519				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Oct;26(10):598-600	[Frequent genetic deletion of detoxifying enzyme GSTM1 and GSTT1 genes in nasopharyngeal carcinoma patients in Guangxi Province, China]		138350	17027	2	2004	 In high-risk area, nasopharyngeal carcinoma patients and local residents have high frequency of GSTM1 and/or GSTT1 gene deletion. It suggests that a genetic susceptibility to putative chemical carcinogens may be responsible for NPC clustering in the high-risk area studied.	Control:135 control subjects;Case:91 patients with nasopharyngeal cancer Guangxi Province, China										
124413	Y	hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Deng, Z.  et al. 2001	11859714				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		China	CDC GDPinfo	2944	Hs.301961			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2001 Nov;23(6):477-9	[Glutathione-S-transferase M1 genotype in patients with hepatocellular carcinoma]		138350	17022	2	2001	 GSTM1 is one of the pivotal phase II detoxicated enzymes for AFB1. GSTM1 genetic deletion predisposes the individuals to HCC. However, the development of a HCC not only requires a genetic susceptibility, but also a AFB1 highly contaminated environment. The synergism of carcinogenic viruses such as HBV and HCV is also needed. These, when happen to be present together in an area in Guangxi, would lead to a high incidence of HCC.	Case:162 HCC patients whose lesions had been confirmed by:pathology;Control:177 adults of local residents without cancer;Control:40 young men coming from other places with incidence of HCC										
124415	N	lung cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Lan, Q.  et al. 1999	12712736				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese		CDC GDPinfo	2944	Hs.301961			Wei sheng yan jiu. 1999 Jan;28(1):11-Sep	[Glutathione S-transferase GSTM1 and GSTT1 genotypes and susceptibility to lung cancer]		138350	17024	2	1999	No association was found between GSTT1 null genotype and lung cancer. The rate of GSTM1 null genotype in Xuanwei City was found to be similar to those of other Chinese populations.	Case:86 newly diagnosed lung cancer cases Xuanwei City, China;Control:86 matched control subjects with the same sex, fuel type used, and age (=/- 2 years)										
124410		pneumoconiosis, coal workers'	INFECTION	INF	Occupational Diseases|Pneumoconiosis	1	1p13.3	GSTM1	110031964	110037890		Zhai, R.  et al. 2002	11977425				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of occupational and environmental medicine. 2002 Apr;44(4):372-7	Genetic polymorphisms of MnSOD, GSTM1, GSTT1, and OGG1 in coal workers' pneumoconiosis		138350	14006	2	2002	Cumulative dust exposures, but not genetic polymorphisms, were associated significantly with the presence of CWP. This study illustrates the complexity of factors that may contribute to the development of CWP.	Control:160 controls (with no radiologic criteria for CWP);Case:99 cases with International Labor Organization chest radiologic criteria for CWP	coal dust smoking (tobacco)									
124411		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ivashchenko, T. E.  et al. 2001	11234415				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Genetika. 2001 Jan;37(1):107-11	[Genetic factors in predisposition to bronchial asthma]		138350	17020	2	2001	The frequency of the GSTM1 0/0, GSTT1 0/0 individuals among the patients was 57.9%, while it was only 4.7% among the controls (chi 2 = 27.4; P < 0.001).	Case bronchial asthma patients;Control normal individuals from the northwestern Russia										
124412		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid	1	1p13.3	GSTM1	110031964	110037890		Naoe, T.  et al. 2002	11840286				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Leukemia. 2002 Feb;16(2):203-8	Prognostic significance of the null genotype of glutathione S-transferase-T1 in patients with acute myeloid leukemia: increased early death afterchemotherapy.		138350	17021	2	2002	The null genotype of GSTT1 might be associated with increased toxicity after chemotherapy.	Cohort 193 patients with de novo acute myeloid leukemia (AML) other than M3 	chemotherapy									
124408	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM1	110031964	110037890		Harada, S.  et al. 2001	11688992				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Biochemical and biophysical research communications. 2001 Nov;288(4):887-92	An Association between Idiopathic Parkinson's Disease and Polymorphisms of Phase II Detoxification Enzymes: Glutathione S-TransferaseM1 and Quinone Oxidoreductase 1 and 2		138350	12949	2	2001	Our data suggested that the deletion of 29-bp nucleotides in the promoter region of the NQO2 gene associates with the development of PD	Control:100 unrelated healthy volunteers;Case:111 unrelated outpatients with idiopathic PD										
124409		alcohol abuse	CHEMDEPENDENCY	CHEM	Hallucinations|Alcohol Withdrawal Delirium|Chromosome Deletion|Disease Susceptibility	1	1p13.3	GSTM1	110031964	110037890		Okubo, T.  et al. 2003	12960511				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Japan	CDC GDPinfo	2944	Hs.301961			Alcoholism, clinical and experimental research. 2003 Aug;27(8 Suppl):68S-71S	Association analyses between polymorphisms of the phase II detoxification enzymes (GSTM1, NQO1, NQO2) and alcohol withdrawal symptoms.		138350	12950	2	2003	 Present data suggest that an insertion/deletion polymorphism in the promoter region of the NQO2 gene plays an important role in the pathogenesis of alcoholism and alcohol withdrawal symptoms.	Control:134 age-matched Japanese male controls (nonhabitual:drinkers);Case:247 Japanese male alcoholic patients with alcohol withdrawal symptoms or without the symptoms										
124404		DNA strand breakage	UNKNOWN	UNK	Colorectal Neoplasms|DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Kiss, I.  et al. 2000	11201682				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			European journal of cancer prevention. 2000 Dec;9(6):429-32	Allelic polymorphism of GSTM1 and NAT2 genes modifies dietary-induced DNA damage in colorectal mucosa		138350	12643	2	2000	Our study emphasizes the importance of using susceptibility markers in cancer epidemiology, since environmental effects are strongly modified by these genetic factors.	Cohort healthy volunteers 										
124406		breast cancer; thiopurine methyltransferase activity	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Hamdy, S. I.  et al. 2003	12814450				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			British journal of clinical pharmacology. 2003 Jun;55(6):560-9	Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.		138350	12652	2	2003	 We found that Egyptians resemble other Caucasians with regard to allelic frequencies of the tested variants of NAT2, GST and MDR-1. By contrast, this Egyptian population more closely resemble Africans with respect to the TPMT*3C allele, and shows a distinctly different frequency with regard to the SULT1A1*2 variant. The predominance of the slow acetylator genotype in the present study (60.50%) could not confirm a previously reported higher frequency of the slow acetylator phenotype in Egyptians (92.00%), indicating the possibility of the presence of other mutations not detectable as T341C, G590A and G857A. The purpose of our future studies is to investigate for new polymorphisms, which could be relatively unique to the Egyptian population.	Cohort 200 unrelated Egyptian subjects Egypt 										
124401	Y	PAH metabolites, urinary	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Lee, K. H.  et al. 2002	11936216				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of toxicology and environmental health Part A. 2002 Mar;65(6-May):355-63	Influence of polymorphism of GSTM1 gene on association between glycophorin a mutant frequency and urinary PAH metabolites in incineration workers.		138350	10997	2	2002	These results suggest that the association between urinary 1-OHPG and GPA mutation might be modulated by the GSTM1 genotype.	Cohort 81 workers including 38 employees directly involved in incinerating industry wastes were recruited South Korea 		GSTM1		GPA				Y	polycyclic aromatic hydrocarbon exposure	Urinary PAH metabolites in incineration workers
124402	Y	chronic toxic encephalopathy	NEUROLOGICAL	NEUR	Brain Diseases|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ahmadi, A.  et al. 2002	14992466				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Toxicology and industrial health. 2002 Jul;18(6):289-96	Interaction between smoking and glutathione S-transferase polymorphisms in solvent-induced chronic toxic encephalopathy.		138350	11305	2	2002	We suggest that the GSTM1 null genotype in smokers is a possible risk for solvent-induced CTE.	Control:32 non-chronic toxic encephalopathy patients;Case:56/27 chronic toxic encephalopathy (CTE, n = 56), incipient CTE (n = 27) patients	smoking (tobacco) solvents									
124403		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kiffmeyer, W. R.  et al. 2004	14716779				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	2944	Hs.301961			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		138350	12590	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
124398		head and neck cancer; benzene toxicity	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Xu, Q.  et al. 2005	15952134				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Korean		CDC GDPinfo	2944	Hs.301961			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):347-9	[Genetic polymorphisms of the CYP450 1A1, CYP450 2E1, GSTM1, GSTT1, and GSTP1 in Korean]		138350	10986	2	2005	 The genetic distribution of the genes in Korean is similar to the distribution of those in Chinese; more than half of the Korean in the study sample lack GSTM1 and GSTT1; the frequency for GSTM1 and GSTT1 null type of Korean is 3 times that of Indian.											
124399		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Chan, E. C.  et al. 2005	16157195				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese		CDC GDPinfo	2944	Hs.301961			Cancer genetics and cytogenetics. 2005 Oct;162(1):20-Oct	Polymorphisms of the GSTM1, GSTP1, MPO, XRCC1, and NQO1 genes in Chinese patients with non-small cell lung cancers: relationship with aberrant promotermethylation of the CDKN2A and RARB genes.		138350	10990	2	2005												
124400		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM1	110031964	110037890		Deng, Y.  et al. 2004	15288444				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Neuroscience letters. 2004 Aug;366(3):326-31	Case-only study of interactions between genetic polymorphisms of GSTM1, P1, T1 and Z1 and smoking in Parkinson's disease.		138350	10996	2	2004	These data suggest that one or more GSTP1 polymorphisms may interact with cigarette smoking to influence the risk for PD.	Cohort 400 Parkinson's disease cases Cohort 402 healthy, aged individuals with smoking exposure information 	smoking (tobacco)									
124395		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	1	1p13.3	GSTM1	110031964	110037890		Flamant, C.  et al. 2004	15115915				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2004 May;14(5):295-301	Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis.		138350	10965	2	2004	 These data provide the first evidence suggesting that polymorphism of the GSTM3 gene contributes to clinical severity in CF, which may have prognostic significance and could prompt to start a more targeted therapy in young patients with CF.	Cohort 146 children with cystic fibrosis 		GSTM3	*A					Y		cystic fibrosis
124396		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Fryer, A. A.  et al. 2004	15459020				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Australian	Australia	CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2005 Jan;26(1):185-91	Polymorphisms in glutathione S-transferases and non-melanoma skin cancer risk in Australian renal transplant recipients.		138350	10972	2	2004	These data confirm our UK findings, suggesting that protection against UVR-induced oxidative stress is important in NMSC development in recipients, but that this effect depends on immunosuppressant regimen.	Cohort 361 Queensland renal transplant recipients Queensland, Australia 										
124393	N	lung function	OTHER	OTH	Lung Diseases|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		He, J. Q.  et al. 2002	12153964				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			American journal of respiratory and critical care medicine. 2002 Aug;166(3):323-8	Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers.		138350	10952	2	2002	None of the genotypes studied had a statistically significant effect on decline of lung function when analyzed separately. There was an association between rapid decline of lung function and presence of all three GST polymorphisms (odds ratio [OR] = 2.83; p = 0.03). A combination of a family history of chronic obstructive pulmonary disease with GSTP1 105Ile/Ile genotype was also associated with rapid decline of lung function (OR = 2.20; p = 0.01). However, due to the multiple comparisons that were made, these associations may represent type 1 error. There was no association between HMOX1 (GT)n alleles and the rate of decline in lung function in smokers.	Case:299 rapid decliners [change in forced expiratory volume in 1 second (DeltaFEV(1)) = -152 +/- 2.5 ml/year] selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study;Control:322 nondecliners [DeltaFEV(1) = +15 +/- 1.5 ml/year]) selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study	family history	GSTM1	105Ile/Ile	GSTT1		GSTP1				lung function
124394	N	polycyclic aromatic hydrocarbons	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Weiserbs, K. F.  et al. 2003	12775499				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	African American		CDC GDPinfo	2944	Hs.301961			Biomarkers. 2003 Mar-Apr;8(2):142-55	A cross-sectional study of polycyclic aromatic hydrocarbon-DNA adducts and polymorphism of glutathione S-transferases among heavy smokers by race/ethnicity		138350	10959	2	2003	We found no association between adduct levels and GSTP1 genotype. Although the mechanism is unclear, ethnic differences in DNA damage levels may in part explain why African-Americans have higher lung cancer incidence rates than other ethnic groups.	Cohort 151 smokers who were recruited for possible participation in an antioxidant vitamin intervention study 										
124391		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Mitrunen, K.  et al. 2001	11303592				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Finland	CDC GDPinfo	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):229-36	Glutathione S-transferase M1, M3, P1, and T1 genetic polymorphisms and susceptibility to breast cancer.		138350	10941	2	2001	Our findings support the view that GST genotypes contribute to the individual breast cancer risk, especially in certain combinations.	Control:482 healthy population controls;Case:483 incident breast cancer cases										
124392		lung cancer; hamartomas	CANCER	CAN	Hamartoma|Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Diseases|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Risch, A.  et al. 2001	11740339				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2001 Dec;11(9):757-64	Glutathione-S-transferase M1, M3, T1 and P1 polymorphisms and susceptibility to non-small-cell lung cancer subtypes and hamartomas.		138350	10948	2	2001	In conclusion, GST genotypes may act differently, either by detoxifying harmful tobacco carcinogens and/or by eliminating lung cancer chemopreventive agents. The latter role for GSTT1 would explain the observed lower risk of SCC and hamartoma associated with GSTT1 null. Further confirmatory studies are required.	Control:353 hospital control subjects;Case:389 Caucasian lung cancer patients (151 adenocarcinomas and 172 squamous cell carcinomas)										
124388		leukemia, acute myeloid	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890			16321221				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua yi xue za zhi. 2005 Aug;85(33):2312-6	[Relationship between GSTT1, GSTM1 and NQO1 gene polymorphism and acute myeloid leukemia and recurrent chromosome translocations]		138350	10932	2	2005	 Determination of the NQO1(C609T) genotypes may be used as a stratification marker to predict high-risk individuals for AML, especially for AML with t (8; 21) (q22; q22)/AML-ETO fusion gene and t (15; 17) (q22; q11)/PML-RARalpha fusion gene.											
124389	Y	oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Buch, S. C.  et al. 2002	12016153				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Indian	India	CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2002 May;23(5):803-7	Polymorphism at GSTM1, GSTM3 and GSTT1 gene loci and susceptibility to oral cancer in an Indian population.		138350	10933	2	2002	The results suggest that the GSTM1 null genotype is a risk factor for development of oral cancer among Indian tobacco habitues.	Case:297 oral cancer patients;Control:450 healthy controls										
124390		ototoxicity	OTHER	OTH	Osteosarcoma|Hearing Loss, Functional	1	1p13.3	GSTM1	110031964	110037890		Peters, U.  et al. 2000	11081456				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Anti-cancer drugs. 2000 Sep;11(8):639-43	Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin		138350	10938	2	2000	a protective effect was found for the GSTM3*B allele with a frequency of 0.18 in the group with normal hearing after therapy versus 0.025 in the group with hearing impairment. (chi2=5.37; p=0.02).	Control:19 patients with no hearing impairment under comparable doses of the drug;Case:20 patients early and highly sensitive to the ototoxicity of cisplatin	cisplatin									
124385	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Zou, L. L.  et al. 2004	15777500				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		China	CDC GDPinfo	2944	Hs.301961			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Nov;26(11):649-51	[Glutathione S-transferase T1, M1 gene polymorphism in leukemia patients in Shanghai area.]		138350	10928	2	2004	 Individuals who bear GSTT1 0/0 genotype or GSTT1 0/0-GSTM1 0/0 combined genotypes are more susceptible to leukemia, especially for male and younger carriers.	Control:183 healthy residents in the same city;Case:61 leukemia patients:Shanghai										
124386	Y	hepatitis B; cirrhosis; liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis	1	1p13.3	GSTM1	110031964	110037890		Zhu, M. H.  et al. 2005	15812885				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhejiang da xue xue bao Yi xue ban. 2005 Mar;34(2):126-30	[Association of genetic polymorphisms in glutathione S-transferases M1 with hepatitis beta-related hepatocellular carcinoma.]		138350	10929	2	2005	 The GSTM1-null genotype may be associated with an increased risk of HCC, but not of CHB and LC.	Control:134 normal controls;Case:91 patients with heptocellular carcinoma (n=91), liver chirrhosis (n=58), and chronic hepatitis B (n=63)										
124387	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Long, X. D.  et al. 2005	16174455				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua gan zang bing za zhi. 2005 Sep;13(9):668-70	[A study about the association of detoxication gene GSTM1 polymorphism and the susceptibility to aflatoxin B1-related hepatocellular carcinoma]		138350	10931	2	2005	 The results suggest that genetic polymorphism of GSTM1 was susceptible to HCC and individuals who are GSTM1-null have an increased risk of developing HCC. There is evidence of interaction between GSTM1 polymorphism and AFB1 exposure, especially with low/median degrees of AFB1 exposure.		aflatoxin									
124382	N	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Huang, Z. G.   2004	15631753				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua liu xing bing xue za zhi. 2004 Oct;25(10):898-901	[Meta-analysis on glutathione S-transferase M1 polymorphisms and the risk of esophageal cancer]		138350	10925	2	2004	 Our results through Meta-analysis did not support the association between GSTM1 null genotype and esophageal cancer, but the smokers carring the GSTM1 null genotype might be associated with the increased risk of esophageal cancer.	Case:1,190 esophageal cancer cases from 11 studies;Control:1,964 controls from 11 studies										
124383	Y	benzene toxicity	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Chen, Y.  et al. 2005	15748501				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Feb;23(1):5-Jan	[Genetic polymorphisms of NQO1, GSTT1, STM1 and susceptibility to chronic benzene poisoning.]		138350	10926	2	2005	 The interaction of multi-genes may be an important role to BP. The genetic polymorphisms of 3 genes (NQO1, GSTT1 and GSTM1) led to declining of detoxifying ability in benzene metabolism, so the individual with NQO1 C609T T/T genotype, GSTT1 null genotype and GSTM1 null genotype is most susceptive to benzene. The results were consistent with that of the theoretic presumption. It could be suggested as a biomarker to assess the risk of benzene poisoning for individuals.	Case:100 patients with benzene poisoning;Control:90 workers exposed to benzene who were engaged in the same working time and job title as patients with benzene poisoning		NQO1	C609T T/T	GSTT1	null	GSTM1	null	Y	exposure to benzene	chronic benzene poisoning
124379	N	motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease	1	1p13.3	GSTM1	110031964	110037890		Shadrina, M. I.  et al. 2002	12500684				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Moscow	CDC GDPinfo	2944	Hs.301961			Genetika. 2002 Nov;38(11):1566-8	[Polymorphism of glutathione S-transferase genes M1 and T1 in patients with motor neuron disease from the city of Moscow]		138350	10921	2	2002	Apparently, these genes are not involved in MND pathogenesis in these patients.	Case patients with motor neuron disease:Moscow, Russia;Control random sample from the Moscow population:Moscow, Russia 										
124380		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Cajas-Salazar, N.  et al. 2003	14626895				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Texas	CDC GDPinfo	2944	Hs.301961			International journal of hygiene and environmental health. 2003 Oct;206(6):473-83	Combined effect of MPO, GSTM1 and GSTT1 polymorphisms on chromosome aberrations and lung cancer risk		138350	10922	2	2003	Therefore, our study strengthens the combined use of genotype and biomarkers for genetic susceptibility to environmental cancer.	Case:110 Caucasian patients with lung cancer;Control:119 matched controls	smoking (tobacco)	GSTM1	null	GSTT1	null	MPO	GA	Y	smoking	Lung Cancer
124381	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Hsieh, Y. Y.  et al. 2004	15299090			promoter	Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	CDC GDPinfo	2944	Hs.301961			Molecular human reproduction. 2004 Oct;10(10):713-7	Glutathione S-transferase M1 *null genotype but not myeloperoxidase promoter G-463A polymorphism is associated with higher susceptibility to endometriosis		138350	10924	2	2004	We conclude that  the GSTM1*null genotype is associated with a higher risk of endometriosis development. MPO-463*G/A gene polymorphism is not related to the susceptibility of endometriosis.	Case:150 women with endometriosis;Control:159 non-endometriosis women										
124376		motor neuron disease	NEUROLOGICAL	NEUR		1	1p13.3	GSTM1	110031964	110037890			11898621				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Russian		CDC GDPinfo	2944	Hs.301961			Genetika. 2002 Feb;38(2):281-4	[Polymorphism of glutathione S-transferases M1 and T1 in several populations of Russia]		138350	10918	2		The highest frequency of individuals with the null genotype of both genes was observed in the Kalmyk and Buryat populations. The results may be used to study the effect of climatic and ecological conditions on multifactorial disease incidence in populations.	Cohort healthy donors from several Russian populations (ethnic Russians from the towns of Oshevensk and Kholmogory, Arkhangel'sk oblast; ethnic Khants; ethnic Kalmyks; and ethnic Buryats) 										
124378	Y	lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Lu, W.  et al. 2002	12397651				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese	China	CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2002 Nov;102(3):275-9	Genetic polymorphism in myeloperoxidase but not GSTM1 is associated with risk of lung squamous cell carcinoma in a Chinese population.		138350	10920	2	2002	Our results confirm the previous reports showing that the variant A allele of MPO has a protective effect against risk of lung cancer.	Case:314 patients with lung cancer;Control:320 frequency-matched controls	smoking (tobacco)	GSTM123		MPO	A			Y	smoking (tobacco)	Variant A allele of MPO has a protective effect against risk of lung cancer
124373		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Fraser PA 2003	12563680				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			Y Wang	2944	Hs.301961			The Journal of rheumatology. 2003 Feb;30(2):276-82	Glutathione S-transferase M null homozygosity and risk of systemic lupus erythematosus associated with sun exposure: a possible gene-environment interaction for autoimmunity.		138350	3005	1	2003	 Our results suggest that GSTM1 homozygous null genotype may modify the effect of occupational sun exposure on the risk of SLE in caucasians.											
124374		anemia	HEMATOLOGICAL	HEM	Anemia, Aplastic|Myelodysplastic Syndromes|Chromosome Aberrations	1	1p13.3	GSTM1	110031964	110037890		Sutton JF 2004	14752874				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	caucasian		KGB	2944	Hs.301961			Pediatric blood & cancer. 2004 Feb;42(2):122-6	Increased risk for aplastic anemia and myelodysplastic syndrome in individuals lacking glutathione S-transferase genes.		138350	3006	1	2004	 There seems to be an increased risk for AA and MDS in individuals lacking GSTT1 or both GSTM1/GSTT1.											
124375		stomach cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Shen, J.  et al. 2001	11860849				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua liu xing bing xue za zhi. 2001 Feb;22(1):61-4	[Application of the interaction models between the polymorphism(s) of metabolic gene(s) and environmental exposure]		138350	10917	2	2001	 Logistic regression model can be used to evaluate gene-environment interaction and dose-response of exposure-gene effect.	Case:112 intestinal types of stomach cancer cases with endoscopy and pathology diagnosis in the Yangzhong City Hospital:China January 1997 to December 1998;Control:675 controls were selected from persons who had no history of digestive system cancers	smoking (tobacco)									
124370		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Medeiros R 2004	14968442				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	European	Europe|Portugal	KGB	2944	Hs.301961			The Prostate. 2004 Mar;58(4):414-20	Metabolic susceptibility genes and prostate cancer risk in a southern European population: the role of glutathione S-transferases GSTM1, GSTM3, and GSTT1 genetic polymorphisms.		138350	3002	1	2004	 Our results indicate that polymorphism in the GSTM3 may be an important biomarker for PC risk, especially in the definition of the genetic risk profile of populations of southern Europe.	Case:150 prostate cancer patients southern Europe;Control:185 community control subjects										
124371		cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Lee SA 2004	15047208				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Korean	Korea	KGB	2944	Hs.301961			Gynecologic oncology. 2004 Apr;93(1):14-8	Genetic polymorphisms of GSTM1, p21, p53 and HPV infection with cervical cancer in Korean women.		138350	3003	1	2004	 These findings suggest that the risk of cervical cancer may be related to GSTM1 genotype in women with high-risk HPV infection and that there is a possible gene-gene interaction in the incidence of cervical cancer.											
124372		stomach cancer	CANCER	CAN	Stomach Neoplasms|Metaplasia	1	1p13.3	GSTM1	110031964	110037890		Chen SY 2004	14696128				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	KGB	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2004 Feb;108(4):606-12	Modification effects of GSTM1, GSTT1 and CYP2E1 polymorphisms on associations between raw salted food and incomplete intestinal metaplasia in a high-risk area of stomach cancer.		138350	3004	1	2004												
124367		smoking	CANCER	CAN	Rectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Slattery ML 2003	14504199				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		California|Utah	KGB	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):882-9	Associations between smoking, passive smoking~~~ GSTM-1~~~ NAT2~~~ and rectal cancer.		138350	2999	1	2003												
124368		esophageal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wang LD 2003	12854128				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	north Chinese	China	KGB	2944	Hs.301961			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China.		138350	3000	1	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
124369		Decreased lung function	CARDIOVASCULAR	CARD	Respiratory Tract Diseases|Occupational Diseases	1	1p13.3	GSTM1	110031964	110037890		Luo JC 2004	15091291				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	KGB	2944	Hs.301961	exposure to epichlorohydrin		Journal of occupational and environmental medicine. 2004 Mar;46(3):280-6	Decreased lung function associated with occupational exposure to epichlorohydrin and the modification effects of glutathione s-transferase polymorphisms.		138350	3001	1	2004												
124364		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Lee KM 2003	12860276				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Cancer letters. 2003 Jul;196(2):179-86	N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1~~~ GSTT1) polymorphisms in breast cancer.		138350	2996	1	2003												
124365		orolaryngeal cancer	CANCER	CAN	Laryngeal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Park JY 2003	12747973				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Oral oncology. 2003 Jul;39(5):483-90	Epoxide hydrolase genotype and orolaryngeal cancer risk: interaction with GSTM1 genotype.		138350	2997	1	2003												
124366		childhood asthma.	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		David GL 2003	12969868				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1199-204	Nicotinamide adenine dinucleotide (phosphate) reduced:quinone oxidoreductase and glutathione S-transferase M1 polymorphisms and childhood asthma.		138350	2998	1	2003												
124361		polycyclic aromatic hydrocarbon-DNA adduct levels	OTHER	OTH	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	1	1p13.3	GSTM1	110031964	110037890		Rundle A 2003	14504203				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):911-4	The interaction between alcohol consumption and GSTM1 genotype on polycyclic aromatic hydrocarbon-DNA adduct levels in breast tissue.		138350	2993	1	2003												
124362		adenocarcinoma	CANCER	CAN	Adenocarcinoma|Intestinal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Norum Pedersen L 2003	12940438				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Scandinavian journal of gastroenterology. 2003 Aug;38(8):845-9	Glutathione S-transferase genotype and p53 mutations in adenocarcinoma of the small intestine.		138350	2994	1	2003												
124363		smoking	CANCER	CAN	Carcinoma, Adenosquamous|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kiyohara C 2003	12925969				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	KGB	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2003 Oct;107(1):139-44	Risk modification by CYP1A1 and GSTM1 polymorphisms in the association of environmental tobacco smoke and lung cancer: a case-control study in Japanese nonsmoking women.		138350	2995	1	2003												
124358		lung adenocarcinoma	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wang J 2003	14607333				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	chinese	China	KGB	2944	Hs.301961			Cancer letters. 2003 Nov;201(2):185-93	GST genetic polymorphisms and lung adenocarcinoma susceptibility in a Chinese population.		138350	2990	1	2003												
124359		smoking	CANCER	CAN	Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Ruano-Ravina A 2003	14666648				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Anticancer research. 2003 Sep-Oct;23(5b):4333-7	GSTM1 and GSTT1 polymorphisms, tobacco and risk of lung cancer: a case-control study from Galicia~~~ Spain.		138350	2991	1	2003	 The absence of the GSTM1 gene is, while that of the GSTT1 gene is seemingly not, implicated in susceptibility to lung cancer.											
124360		breast carcinoma	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Khedhaier A 2003	14562023				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Tunisia	KGB	2944	Hs.301961			British journal of cancer. 2003 Oct;89(8):1502-7	Glutathione S-transferases (GSTT1 and GSTM1) gene deletions in Tunisians: susceptibility and prognostic implications in breast carcinoma.		138350	2992	1	2003												
124355	Y	oral clefting	CANCER	CAN	Cleft Palate|Cleft Lip|Mouth Abnormalities|Prenatal Exposure Delayed Effects	1	1p13.3	GSTM1	110031964	110037890		Hartsfield JK Jr et al. 2001	11471167				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961	maternal smoking		American journal of medical genetics. 2001 Jul;102(1):21-4	Analysis of the EPHX1 113 polymorphism and GSTM1 homozygous null polymorphism and oral clefting associated with maternal smoking.		138350	2987	1	2001			smoking (tobacco), maternal									
124356	Y	urinary PAH metabolites	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Lee KH et al. 2002	11936216				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961	incineration workers	urinary 1-OHPG levels	Journal of toxicology and environmental health Part A. 2002 Mar;65(6-May):355-63	Influence of polymorphism of GSTM1 gene on association between glycophorin a mutant frequency and urinary PAH metabolites in incineration workers.		138350	2988	1	2002	These results suggest that the association between urinary 1-OHPG and GPA mutation might be modulated by the GSTM1 genotype.	Cohort 81 workers including 38 employees directly involved in incinerating industry wastes were recruited South Korea		GSTM1		GPA				Y	polycyclic aromatic hydrocarbon exposure	Urinary PAH metabolites in incineration workers
124357	Y	asbestos-associated pulmonary disorders	OTHER	OTH	Lung Diseases|Lung Neoplasms|Occupational Diseases|Disease Susceptibility	1	1p13.3	GSTM1	110031964	110037890		Hirvonen A et al. 1996	8961976				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Finland	KGB	2944	Hs.301961			Journal of the National Cancer Institute. 1996 Dec;88(24):1853-6	Glutathione S-transferase and N-acetyltransferase genotypes and asbestos-associated pulmonary disorders.		138350	2989	1	1996	 Individuals with homozygous deletion of the GSTM1 gene and a NAT2 slow-acetylator genotype who are exposed to high levels of asbestos appear to have enhanced susceptibility to asbestos-related pulmonary disorders.											
124352		breast cancer susceptibility	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Maugard CM et al. 1998	9679567				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		France	KGB	2944	Hs.301961			Chemico-biological interactions. 1998 Apr;111-112:365-75	Allelic deletion at glutathione S-transferase M1 locus and its association with breast cancer susceptibility.		138350	2984	1	1998												
124353	Y	aflatoxin-related hepatocarcinogenesis	CANCER	CAN	Hepatitis B, Chronic|Liver Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sun CA et al. 2001	11470760				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	KGB	2944	Hs.301961			Carcinogenesis. 2001 Aug;22(8):1289-94	Genetic polymorphisms of glutathione S-transferases M1 and T1 associated with susceptibility to aflatoxin-related hepatocarcinogenesis among chronic hepatitis B carriers: a nested case-control study in Taiwan.		138350	2985	1	2001												
124354		lung cancer susceptibility	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Zhong S et al. 1991	1680031				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Carcinogenesis. 1991 Sep;12(9):1533-7	Glutathione S-transferase mu locus: use of genotyping and phenotyping assays to assess association with lung cancer susceptibility.		138350	2986	1	1991												
124349	Y	breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Helzlsouer KJ et al. 1998	9539246				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Journal of the National Cancer Institute. 1998 Apr;90(7):512-8	Association between glutathione S-transferase M1 P1 and T1 genetic polymorphisms and development of breast cancer.		138350	2981	1	1998	 Our findings suggest that genetic variability in members of the GST gene family may be associated with an increased susceptibility to breast cancer.											
124350	Y	metastatic colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis	1	1p13.3	GSTM1	110031964	110037890		Stoehlmacher J et al. 2002	12072547				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		California	KGB	2944	Hs.301961			Journal of the National Cancer Institute. 2002 Jun;94(12):936-42	Association between glutathione S-transferase P1 T1 and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer.		138350	2982	1	2002	 The GSTP1 Ile(105)Val polymorphism is associated in a dose-dependent fashion with increased survival of patients with advanced colorectal cancer receiving 5-FU/oxaliplatin chemotherapy.											
124351		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3	GSTM1	110031964	110037890		Mattey DL et al. 2002	11920399	GSTM1 null			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	female Caucasian		KGB	2944	Hs.301961	smoking		Arthritis and rheumatism. 2002 Mar;46(3):640-6	Smoking and disease severity in rheumatoid arthritis: association with polymorphism at the glutathione S-transferase M1 locus.		138350	2983	1	2002	 Our data suggest that disease outcome in female RA patients with a history of smoking is significantly worse than in those who have never smoked. Smoking was associated with the most severe disease in patients who carried the GSTM1-null polymorphism. This association may be due in part to a relationship between the GSTM1 polymorphism and RF production in smokers.	Case:164										
124346	Y	high inducibility of cytochrome P450 1A1 gene transcription	OTHER	OTH	Lymphoma, B-Cell	1	1p13.3	GSTM1	110031964	110037890		Vaury C et al. 1995	7585625				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Cancer research. 1995 Dec;55(23):5520-3	Human glutathione S-transferase M1 null genotype is associated with a high inducibility of cytochrome P450 1A1 gene transcription.		138350	2978	1	1995												
124347	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sun GF et al. 1997	9065818				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Chinese	China	KGB	2944	Hs.301961			Cancer letters. 1997 Feb;113(2-Jan):169-72	Gene deficiency of glutathione S-transferase mu isoform associated with susceptibility to lung cancer in a Chinese population.		138350	2979	1	1997												
124348	N	cataract	VISION	VIS	Cataract	1	1p13.3	GSTM1	110031964	110037890	n	Alberti G et al. 1996	8631631				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Italian	United States|Italy	KGB	2944	Hs.301961			Investigative ophthalmology & visual science. 1996	Glutathione S-transferase M1 genotype and age-related cataracts. Lack of association in an Italian population.		138350	2980	1	1996	No associations between the GSTM1 alleles, including the null allele, and cataracts were detected in this study.	Case:202; Control:98										
124343	N	tumour characteristics and survival	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890	n	Lizard-Nacol S et al. 1999	11056682				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Breast cancer research. 1999 ;1(1):81-7	Glutathione S-transferase M1 null genotype: lack of association with tumour characteristics and survival in advanced breast cancer.		138350	2975	1	1999	 GSTM1-null genotype alone had no effect on tumour characteristics and outcome of patients with advanced breast cancers. The lack of correlation of GSTM1 genotype with clinical tumour features, clinical response to chemotherapy and survival exclude a role for GSTM1 polymorphism as a prognostic factor in advanced breast cancer.											
124345	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM1	110031964	110037890		Harada S et al. 2001	11688992				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Biochemical and biophysical research communications. 2001 Nov;288(4):887-92	An association between idiopathic Parkinson's disease and polymorphisms of phase II detoxification enzymes: glutathione S-transferase M1 and quinone oxidoreductase 1 and 2.		138350	2977	1	2001	Our data suggested that the deletion of 29-bp nucleotides in the promoter region of the NQO2 gene associates with the development of PD	Control:100 unrelated healthy volunteers;Case:111 unrelated outpatients with idiopathic PD										
124340		Bladder Cancer	CANCER	CAN	Tuberculosis|Urinary Bladder Neoplasms|Asthma	1	1p13.3	GSTM1	110031964	110037890		Kim WJ 2000	10840461	????			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Korean		TJB	2944	Hs.301961			The Journal of urology. 2000 Jul;164(1):209-13			138350	2972	1	2000	 Among Korean subjects, GSTM1 null genotype was a significant risk factor for bladder cancer. The reason why bronchial asthma and tuberculosis are risk factors in Korean subjects is yet unknown, but a variety of factors, including enzyme activities for detoxification, medication for these diseases and immunological background might be involved.	Case:221; Control:113										
124341	N	Breast Cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890	n	Bailey LR et al. 1998	9426059				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Cancer research. 1998 Jan;58(1):65-70	Breast cancer and CYPIA1 GSTM1 and GSTT1 polymorphisms: evidence of a lack of association in Caucasians and African Americans.		138350	2973	1	1998												
124342		polycyclic aromatic hydrocarbon-DNA adducts	OTHER	OTH	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Rundle A et al. 2000	11045791				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 2000 Oct;9(10):1079-85	The association between glutathione S-transferase M1 genotype and polycyclic aromatic hydrocarbon-DNA adducts in breast tissue.		138350	2974	1	2000												
124336	Y	Haematological Neoplasias	CANCER	CAN	Hematologic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Lemos MC 1999	10383893	Mutated allele GSTM1*0			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			TJB	2944	Hs.301961			Carcinogenesis. 1999 Jul;20(7):1225-9			138350	2968	1	1999		Case:160; Control:128										
124337	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p13.3	GSTM1	110031964	110037890	P = 0.0075	Harada S 2001	11181039	the GSTM1*0 allele			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			KGB	2944	Hs.301961			Biochemical and biophysical research communications. 2001 Feb;281(2):267-71			138350	2969	1	2001												
124338	N	Diabetic Nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1p13.3	GSTM1	110031964	110037890	n	Fujita H 2000	10901185	GSTM1 null genotype			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	KGB	2944	Hs.301961			Renal failure. 2000 ;22(4):479-86			138350	2970	1	2000		Case:105; Control:69										
124333		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6p12.1	GSTA4	52950709	52968099		Landi, S.  et al. 2005	16006997				Glutathione S-transferase A4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001512.2			CDC GDPinfo	2941	Hs.485557			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		605450	28377	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124334	Y	Longevity	AGING	AGE		1	1p13.3	GSTM1	110031964	110037890	p=0.03	Taioli E 2001	11162685				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			TJB	2944	Hs.301961			Biochemical and biophysical research communications. 2001 Feb;280(5):1389-92			138350	2966	1	2001		Case:94; Control:418										
124335	N	Colon Cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890	n	Kampman E 1999	9950235				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	United States	United States	TJB	2944	Hs.301961			Cancer epidemiology, biomarkers & prevention. 1999 Jan;8(1):15-24			138350	2967	1	1999												
124330		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p12.1	GSTA2	52723139	52736283		Ning, B.  et al. 2004	15128049				Glutathione S-transferase A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000846.3	African American		CDC GDPinfo	2939	Hs.94107			Pharmacogenetics. 2004 Jan;14(1):35-44	Human glutathione S-transferase A2 polymorphisms:variant expression, distribution in prostate cancer cases/controls and a novel form.		138360	21558	2	2004	UsiYg a prostate caYcer case-coYtrol populatioY, it was fouYd that GSTA1*A/GSTA2 C335 aYd GSTA1*B/GSTA2 G335 were iY liYkage disequilibrium iY CaucasiaYs but Yot iY AfricaY-AmericaYs. However, there were Yo sigYificaYt differeYces iY the distributioY of these polymorphisms or resultaYt haplotypes by case status. Yevertheless, the rare geYotypes, GSTA2*E/*E aYd GSTA1*B/*B + GSTA2*C/*C (poteYtial low GSTA2 activity aYd low hepatic GSTA1 aYd GSTA2 expressioY, respectively) could iYcrease the risk of adverse effects of xeYobiotics via compromised efficieYcy of detoxificatioY.	Control:controls;Case prostate cancer cases										
124331		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6p12.1	GSTA2	52723139	52736283		Landi, S.  et al. 2005	16006997				Glutathione S-transferase A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000846.3			CDC GDPinfo	2939	Hs.94107			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		138360	28336	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
124332		Parkinsons disease; Alzheimers disease	NEUROLOGICAL	NEUR	Neurodegenerative Diseases|Parkinson Disease	6	6p12.1	GSTA4	52950709	52968099			16054170				Glutathione S-transferase A4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001512.2			CDC GDPinfo	2941	Hs.485557			Mutation research. 2005 Nov;579(2-Jan):107-14	Molecular implications of the human glutathione transferase A-4 gene (hGSTA4) polymorphisms in NEUROLOGICALenerative diseases		605450	10916	2	2005												
124327		warfarin sensitivity	METABOLIC	MET		6	6p12.1	GSTA1	52764346	52776616		Loebstein, R.  et al. 2005	15900282				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Clinical pharmacology and therapeutics. 2005 May;77(5):365-72	Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9.		138359	26034	2	2005	 Variant mEH T 612 C genotypes are associated with warfarin doses of greater than 50 mg/wk beyond the effect of CYP2C9.	Cohort 100 patients undergoing therapeutic anticoagulation 										
124328		cyclophosphamide phamacokinetics	PHARMACOGENOMIC	PHARM		6	6p12.1	GSTA1	52764346	52776616		Timm, R.  et al. 2005	16116487				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			The pharmacogenomics journal. 2005 ;5(6):365-73	Association of cyclophosphamide pharmacokinetics to polymorphic cytochrome P450 2C19.		138359	26885	2	2005												
124329	Y	hepatic GSTA1/GSTA2 expression	NORMALVARIATION	NV		6	6p12.1	GSTA2	52723139	52736283		Coles, B. F.  et al. 2001	11692074				Glutathione S-transferase A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000846.3			CDC GDPinfo	2939	Hs.94107			Pharmacogenetics. 2001 Nov;11(8):663-9	Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression		138360	21557	2	2001	Because the polymorphism in hGSTA1 correlates with hGSTA1 and hGSTA2 expression in liver, and hGSTA1-1 and hGSTA2-2 exhibit differential catalysis of the detoxification of carcinogen metabolites and chemotherapeutics, the polymorphism is expected to be of significance for individual risk of cancer or individual response to chemotherapeutic agents.	Cohort 55 human livers 										
124324		hepatic GSTA1/GSTA2 expression	NORMALVARIATION	NV		6	6p12.1	GSTA1	52764346	52776616		Matsuno, K.  et al. 2004	15202795				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2	Japanese		CDC GDPinfo	2938	Hs.446309			Clinical chemistry and laboratory medicine. 2004 May;42(5):560-2	Genetic analysis of glutathione S-transferase A1 and T1 polymorphisms in a Japanese population.		138359	10994	2	2004	This is the first report on the frequencies of allelic variants of GSTA1 and GST-1 in a Japanese population.	Cohort a Japanese population 										
124325		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA1	52764346	52776616		Van Der Logt, E. M.  et al. 2004	15319294				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		138359	14663	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
124326		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	6	6p12.1	GSTA1	52764346	52776616		Sorensen, M.  et al. 2005	15808404				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Cancer letters. 2005 Apr;221(2):185-90	Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.		138359	21556	2	2005	The NAT2 fast acetylator genotype seemed to be protective against lung cancer in light smokers (20 cigarettes/day).	Case:265 lung cancer cases identified from a population-based case-cohort study of 54,220;Control:272 individuals from a sub-cohort used for comparison	smoking (tobacco)									
124321		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	6	6p12.1	GSTA1	52764346	52776616		Brind, A. M.  et al. 2004	15525789				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Nov-Dec;39(6):478-83	The role of polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and A1 in susceptibility to alcoholic liver disease.		138359	10975	2	2004	 We have failed to demonstrate within the limitation of a case-control study a reproducible significant association of GST polymorphisms with susceptibility to ALD but there are suggestions that GSTA1 and GSTT1 warrant further study.	Control normal local controls;Case alcohol-related chronic liver disease patients North Staffordshire, Birmingham and Liverpool										
124322	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA1	52764346	52776616		Komiya, Y.  et al. 2004	15616829				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2	Japanese		CDC GDPinfo	2938	Hs.446309			Journal of cancer research and clinical oncology. 2005 Apr;131(4):238-42	Human glutathione S-transferase A1, T1, M1, and P1 polymorphisms and susceptibility to prostate cancer in the Japanese population		138359	10977	2	2004	 These findings suggest that the GSTA1 and GSTT1 polymorphisms are associated with prostate cancer susceptibility, especially among smokers.	Case:190 Japanese male patients with prostate cancer;Control:294 healthy controls, frequency-matched for age	smoking (tobacco)	GSTA123		GSTT123				Y	smokers	prostate cancer
124323		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	6	6p12.1	GSTA1	52764346	52776616			16365014				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2943-51	GSTP1 and GSTA1 polymorphisms interact with cruciferous vegetable intake in colorectal adenoma risk		138359	10993	2	2005			diet	GSTP1	A313G	GSTA1	C-69T			Y	cruciferous vegetable intake	colorectal cancer
124318		hepatic GSTA1/GSTA2 expression	NORMALVARIATION	NV		6	6p12.1	GSTA1	52764346	52776616		Ping, J.  et al. 2005	16280386				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2	Chinese		CDC GDPinfo	2938	Hs.446309			Toxicological sciences. 2006 Feb;89(2):438-43	Genetic Analysis of Glutathione S-Transferase A1 Polymorphism in Chinese and the Influence of Genotype on Enzymatic Properties.		138359	10913	2	2005												
124319	Y	hepatic GSTA1/GSTA2 expression	NORMALVARIATION	NV		6	6p12.1	GSTA1	52764346	52776616		Coles, B. F.  et al. 2001	11692074			promoter	Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Pharmacogenetics. 2001 Nov;11(8):663-9	Effect of polymorphism in the human glutathione S-transferase A1 promoter on hepatic GSTA1 and GSTA2 expression		138359	10914	2	2001	Because the polymorphism in hGSTA1 correlates with hGSTA1 and hGSTA2 expression in liver, and hGSTA1-1 and hGSTA2-2 exhibit differential catalysis of the detoxification of carcinogen metabolites and chemotherapeutics, the polymorphism is expected to be of significance for individual risk of cancer or individual response to chemotherapeutic agents.	Cohort 55 human livers 										
124320	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p12.1	GSTA1	52764346	52776616		Ning, B.  et al. 2004	15128049				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2	African American		CDC GDPinfo	2938	Hs.446309			Pharmacogenetics. 2004 Jan;14(1):35-44	Human glutathione S-transferase A2 polymorphisms:variant expression, distribution in prostate cancer cases/controls and a novel form.		138359	10915	2	2004	UsiYg a prostate caYcer case-coYtrol populatioY, it was fouYd that GSTA1*A/GSTA2 C335 aYd GSTA1*B/GSTA2 G335 were iY liYkage disequilibrium iY CaucasiaYs but Yot iY AfricaY-AmericaYs. However, there were Yo sigYificaYt differeYces iY the distributioY of these polymorphisms or resultaYt haplotypes by case status. Yevertheless, the rare geYotypes, GSTA2*E/*E aYd GSTA1*B/*B + GSTA2*C/*C (poteYtial low GSTA2 activity aYd low hepatic GSTA1 aYd GSTA2 expressioY, respectively) could iYcrease the risk of adverse effects of xeYobiotics via compromised efficieYcy of detoxificatioY.	Control:controls;Case prostate cancer cases										
124315	N	vein occlusion, hepatic	CARDIOVASCULAR	CARD		6	6p12.1	GSTA1	52764346	52776616		Bredschneider, M.  et al. 2002	12087351				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Clinical pharmacology and therapeutics. 2002 Jun;71(6):479-87	Genetic polymorphisms of glutathione S-transferase A1, the major glutathione S-transferase in human liver: consequences for enzyme expression andbusulfan conjugation.		138359	10910	2	2002	 The identified GSTA1 polymorphisms are not likely to be related to the VOD because they do not appear to be associated with changes in GSTA expression or function. Compared with other members of the GST family, GSTA1 displays surprisingly little variation.	Cohort 48 normal human liver samples 										
124316	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness	6	6p12.1	GSTA1	52764346	52776616		Sweeney, C.  et al. 2003	12516103			promoter	Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			International journal of cancer. Journal international du cancer. 2003 Mar;103(6):810-4	Association between a glutathione S-transferase A1 promoter polymorphism and survival after breast cancer treatment		138359	10911	2	2003	These results, although based on a small study population, describe an apparent difference in survival after treatment for breast cancer according to GSTA1 genotype. Further studies should consider the possible association between the novel GSTA1*B variant and outcomes of cancer therapy.	Cohort 245 breast cancer patients treated with CP-containing combination chemotherapy 										
124317		urothelial cancer	CANCER	CAN	Urologic Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA1	52764346	52776616		Komiya, Y.  et al. 2005	15797627				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2	Japanese	Japan	CDC GDPinfo	2938	Hs.446309			Cancer letters. 2005 Apr;221(1):55-9	Human glutathion S-transferase A1 polymorphism and susceptibility to urothelial cancer in the Japanese population.		138359	10912	2	2005	This study suggests that exposure to food-derived PhIP could be one of the risk factors in the incidence of urothelial cancer in never smokers.	Case:341 urothelial cancer patients:Japan;Control:457 healthy controls	smoking (tobacco)									
124311		bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Nishiguchi, N.  et al. 2005	16289783				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Neuroscience letters. 2006 Feb;394(3):243-245	Association analysis of the glycogen synthase kinase-3beta gene in bipolar disorder.		605004	17018	2	2005												
124313		sickle cell and thalassaemia genes	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Glucosephosphate Dehydrogenase Deficiency|Thalassemia	8	8p21.1	GSR	30655976	30704985		Fathman CG et al. 1985	4043983				Glutathione reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000637.2	Saudi	Saudi Arabia	KGB	2936	Hs.271510			Human heredity. 1985 ;35(5):326-32	Glutathione reductase deficiency in association with sickle cell and thalassaemia genes in Saudi populations.		138300	2965	1	1985												
124314	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA1	52764346	52776616		Coles, B.  et al. 2001	11535243				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDPinfo	2938	Hs.446309			Mutation research. 2001 Oct;482(2-Jan):10-Mar	The role of human glutathione S-transferases (hGSTs) in the detoxification of the food-derived carcinogen metabolite N-acetoxy-PhIP, and the effect of a polymorphism in hGSTA1 on colorectal cancer risk.		138359	10909	2	2001	Thus, individuals who are homozygous hGSTA1(*)B, and who would be predicted to have the lowest levels of hGSTA1 expression in their livers, appear to be at risk of developing CRC, possibly as a result of inefficient hepatic detoxification of N-acetoxy-PhIP.	Case:100 Caucasian colorectal cancer patients;Control:226 Caucasian controls (not otherwise specified in:abstract)										
124307	Y	bipolar disorder	PSYCH	PSY	Sleep Deprivation|Genetic Predisposition to Disease|Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Benedetti, F.  et al. 2004	15351432			promoter	Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Neuroscience letters. 2004 Sep;368(2):123-6	A glycogen synthase kinase 3-beta promoter gene single nucleotide polymorphism is associated with age at onset and response to total sleep deprivation in bipolar depression		605004	10907	2	2004	Overall, these observations suggest a protective role for this genotype in respect to bipolar illness. Results warrant interest for the variants of genes pertaining to the molecular clock as possible endophenotypes of bipolar disorder, and for GSK3-beta as a target of a new class of antidepressant drugs, but caution ought to be taken in interpreting these preliminary results and future replication studies must be awaited because of the low frequency of the GSK3-beta*C/C genotype in the studied populations.	Cohort 60 depressed bipolar type I inpatients 										
124308	N	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	3	3q13.3	GSK3B	121028235	121295203		Lee, K. Y.  et al. 2005	16289845				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2	Korean		CDC GDPinfo	2932	Hs.445733			Neuroscience letters. 2006 Mar;395(2):175-8	No association of two common SNPs at position -1727 A/T, -50 C/T of GSK-3 beta polymorphisms with schizophrenia and bipolar disorder of Korean population.		605004	10908	2	2005												
124310	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	GSK3B	121028235	121295203		Ikeda, M.  et al. 2005	15719395				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2	Japanese		CDC GDPinfo	2932	Hs.445733			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):90-2	No association of GSK3beta gene (GSK3B) with Japanese schizophrenia.		605004	17017	2	2005	Because our samples provided quite high power, these results indicate that GSK3B may not play a major role in Japanese schizophrenia.	Control:352:controls;Case:381 Japanese schizophrenic cases										
124303		hepatocellular carcinoma.	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	3	3q13.3	GSK3B	121028235	121295203		Ban KC 2003	12969793				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2		Malaysia	KGB	2932	Hs.445733			Cancer letters. 2003 Sep;199(2):201-8	GSK-3beta phosphorylation and alteration of beta-catenin in hepatocellular carcinoma.		605004	2963	1	2003												
124305	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Benedetti, F.  et al. 2004	14729229			promoter	Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Neuroscience letters. 2004 Jan;355(2-Jan):37-40	A single nucleotide polymorphism in glycogen synthase kinase 3-beta promoter gene influences onset of illness in patients affected by bipolar disorder		605004	10905	2	2004	Results warrant interest for the variants of genes pertaining to the molecular clock as possible endophenotypes of bipolar disorder, but caution ought to be taken in interpreting these preliminary results and future replication studies must be awaited.	Cohort 185 Italian patients affected by bipolar disorder 										
124306		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	GSK3B	121028235	121295203		Scassellati, C.  et al. 2004	15179015	( -1727 A/T, -50 C/T and (CAA)n )			Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Neuropsychobiology. 2004 ;50(1):16-20	Association study of -1727 A/T, -50 C/T and (CAA)n repeat GSK-3beta gene polymorphisms with schizophrenia.		605004	10906	2	2004	In conclusion, we would speculate that this gene may be linked to some features of psychotic disorders rather than to schizophrenia itself.	Case:147 schizophrenic patients;Control:212 healthy individuals										
124300	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q31.3-q32.1	GRM8	125865892	126670546		Bolonna, A. A.  et al. 2001	11163549				Glutamate receptor, metabotropic 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000845.1			CDC GDPinfo	2918	Hs.449625			Schizophrenia research. 2001 Jan;47(1):99-103	Polymorphisms in the genes for mGluR types 7 and 8:association studies with schizophrenia.		601116	21554	2	2001	Both variants, present at high frequencies, failed to demonstrate any significant association with schizophrenia											
124301		delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcohol Withdrawal Delirium|Alcoholism	7	7q31.3-q32.1	GRM8	125865892	126670546		Preuss, U. W.  et al. 2002	11912074				Glutamate receptor, metabotropic 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000845.1			CDC GDPinfo	2918	Hs.449625			Alcohol and alcoholism (Oxford, Oxfordshire). 2002 Mar-Apr;37(2):174-8	No association between metabotropic glutamate receptors 7 and 8 (mGlur7 and mGlur8) gene polymorphisms and withdrawal seizures and delirium tremens in alcohol-dependent individuals.		601116	21555	2	2002	No significant associations were obtained between both receptor polymorphisms and alcohol withdrawal-induced seizures and delirium tremens. The negative results in this study question the role of these polymorphisms in the pathogenesis of alcohol withdrawal-induced seizures and delirium tremens.	Control:117 German controls;Case:182 German patients meeting DSM-IV alcohol dependence:criteria										
124302		autism	PSYCH	PSY	Autistic Disorder	X	Xp22.2-p22.13	GRPR	16051344	16081562		Marui, T.  et al. 2004	14729406				Gastrin-releasing peptide receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005314.2	Japanese		CDC GDPinfo	2925	Hs.567282			Brain & development. 2004 Jan;26(1):7-May	Gastrin-releasing peptide receptor (GRPR) locus in Japanese subjects with autism		305670	17015	2	2004	The allele frequencies and genotype distributions were not significantly different between the patients and controls. However, further studies are required to exclude the GRPR locus as a candidate locus for autism, considering the low frequency of the polymorphism in the Japanese subjects.	Case Japanese patients with autism;Control healthy subjects										
124297	N	delirium tremens, alcohol withdrawal-induced; seizures, alcohol withdrawal-induced	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcohol Withdrawal Delirium|Alcoholism	3	3p26.1-p25.1	GRM7	6877926	7758217		Preuss, U. W.  et al. 2002	11912074				Glutamate receptor, metabotropic 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000844.2			CDC GDPinfo	2917	Hs.570608			Alcohol and alcoholism (Oxford, Oxfordshire). 2002 Mar-Apr;37(2):174-8	No association between metabotropic glutamate receptors 7 and 8 (mGlur7 and mGlur8) gene polymorphisms and withdrawal seizures and delirium tremens in alcohol-dependent individuals.		604101	10903	2	2002	No significant associations were obtained between both receptor polymorphisms and alcohol withdrawal-induced seizures and delirium tremens. The negative results in this study question the role of these polymorphisms in the pathogenesis of alcohol withdrawal-induced seizures and delirium tremens.	Control:117 German controls;Case:182 German patients meeting DSM-IV alcohol dependence:criteria										
124298		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q31.3-q32.1	GRM8	125865892	126670546		Serajee FJ et al. 2003	12676915				Glutamate receptor, metabotropic 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000845.1			KGB	2918	Hs.449625			Journal of medical genetics. 2003 Apr;40(4):e42	The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism.		601116	2962	1	2003												
124299	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7q31.3-q32.1	GRM8	125865892	126670546		Takaki, H.  et al. 2004	15211621				Glutamate receptor, metabotropic 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000845.1	Japanese	Japan	CDC GDPinfo	2918	Hs.449625			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):14-Jun	Positive associations of polymorphisms in the metabotropic glutamate receptor type 8 gene (GRM8) with schizophrenia		601116	10904	2	2004	We conclude that  at least one susceptibility locus for schizophrenia is located within the GRM8 region in Japanese.	Case:100 Japanese schizophrenic cases;Control:100:controls										
124294	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q14.3	GRM5	87880625	88438761		Devon, R. S.  et al. 2001	11326300				Glutamate receptor, metabotropic 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000842.1			CDC GDPinfo	2915	Hs.147361			Molecular psychiatry. 2001 May;6(3):311-4	The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia.		604102	17014	2	2001	A case-control association study identified a significant difference in allele frequency distribution between schizophrenics and controls (P = 0.04). This is suggestive of involvement of the GRM5 gene in schizophrenia in this population.	Case:149 patients with bipolar affective disorder:Scotland;Case:231 schizophrenic patients:Scotland;Control:421 normal subjects who were blood donors:Scotland										
124295	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p26.1-p25.1	GRM7	6877926	7758217	n	Bray NJ et al. 2000	10994646				Glutamate receptor, metabotropic 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000844.2			KGB	2917	Hs.570608			Psychiatric genetics. 2000 Jun;10(2):83-6	No evidence for association between a non-synonymous polymorphism in the gene encoding human metabotropic glutamate receptor 7 and schizophrenia.		604101	2960	1	2000												
124296	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p26.1-p25.1	GRM7	6877926	7758217		Bolonna, A. A.  et al. 2001	11163549				Glutamate receptor, metabotropic 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000844.2			CDC GDPinfo	2917	Hs.570608			Schizophrenia research. 2001 Jan;47(1):99-103	Polymorphisms in the genes for mGluR types 7 and 8:association studies with schizophrenia.		604101	10902	2	2001	Both variants, present at high frequencies, failed to demonstrate any significant association with schizophrenia											
124290		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128			16380905				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2			CDC GDPinfo	2913	Hs.590575			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		601115	27432	2	2005												
124291		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	GRM4	34097605	34209421		Ohtsuki, T.  et al. 2001	11525421				Glutamate receptor, metabotropic 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000841.1	Japanese	Japan	CDC GDPinfo	2914	Hs.429018			Psychiatric genetics. 2001 Jun;11(2):79-83	Mutation screening of the metabotropic glutamate receptor mGluR4 (GRM4) gene in patients with schizophrenia.		604100	17013	2	2001	this study did not provide evidence for the contribution of the mGluR4 gene to schizophrenia in the Japanese.	Case schizophrenic patients:Japan;Control not specified in abstract										
124292		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	6	6p21.3	GRM4	34097605	34209421			16380905				Glutamate receptor, metabotropic 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000841.1			CDC GDPinfo	2914	Hs.429018			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		604100	27721	2	2005												
124287	N	schizophrenia; bipolar affective disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Marti, S. B.  et al. 2002	11840505				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2			CDC GDPinfo	2913	Hs.590575			American journal of medical genetics. 2002 Jan;114(1):46-50	Metabotropic glutamate receptor 3 (GRM3) gene variation is not associated with schizophrenia or bipolar affective disorder in the German population.		601115	17010	2	2002	It is therefore unlikely that this variant plays a major role in predisposing to schizophrenia and/or bipolar affective disorder at least in the German population.	Control not specified in abstract;Case:46 bipolar affective patients:Germany;Case:46 schizophrenic patients										
124288	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Chen, Q.  et al. 2005	15567072				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2	Chinese	China|Japan	CDC GDPinfo	2913	Hs.590575			Schizophrenia research. 2005 Feb;73(1):21-6	A case-control study of the relationship between the metabotropic glutamate receptor 3 gene and schizophrenia in the Chinese population.		601115	17011	2	2005	Our results partially support the previous studies in other ethnic groups and indicate that the GRM3 gene may play an important role in the etiology of schizophrenia in the Han Chinese.	Control:752:controls;Case:752 Chinese patients with schizophrenia										
124289	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Bishop, J. R.  et al. 2005	15913960				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2			CDC GDPinfo	2913	Hs.590575			Schizophrenia research. 2005 Sep;77(3-Feb):253-60	Association between the polymorphic GRM3 gene and negative symptom improvement during olanzapine treatment.		601115	17012	2	2005	 These data suggest that polymorphisms in the GRM3 gene may be useful as predictors of negative symptom improvement in persons with schizophrenia treated with olanzapine.	Cohort 42 subjects meeting DSM-IV criteria for schizophrenia 	olanzapine									
124284	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128	n	Marti SB et al. 2002	11840505				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2	German		KGB	2913	Hs.590575			American journal of medical genetics. 2002 Jan;114(1):46-50	Metabotropic glutamate receptor 3 (GRM3) gene variation is not associated with schizophrenia or bipolar affective disorder in the German population.		601115	2958	1	2002	It is therefore unlikely that this variant plays a major role in predisposing to schizophrenia and/or bipolar affective disorder at least in the German population.	Control not specified in abstract;Case:46 bipolar affective patients:Germany;Case:46 schizophrenic patients										
124285	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Fujii, Y.  et al. 2003	12782962				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2	Japanese		CDC GDPinfo	2913	Hs.590575			Psychiatric genetics. 2003 Jun;13(2):71-6	Positive associations of polymorphisms in the metabotropic glutamate receptor type 3 gene (GRM3) with schizophrenia.		601115	10900	2	2003	 Our data indicate that at least one susceptibility locus for schizophrenia is situated within or very close to the GRM3 region in the Japanese patients.	Case:100 Japanese schizophrenics;Control:100:controls										
124286	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Norton, N.  et al. 2005	15892884				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2			CDC GDPinfo	2913	Hs.590575			BMC psychiatry [electronic resource]. 2005 May;5(1):23	No evidence for association between polymorphisms in GRM3 and schizophrenia.		601115	10901	2	2005	 Examination of our own data and those of other groups leads us to conclude that at present, GRM3 should not be viewed as a gene for which there is replicated evidence for association with schizophrenia.	Case:674 schizophrenic cases:UK;Control:716:controls										
124281		weight maintenance	METABOLIC	MET	Obesity|Weight Loss	19	19q13.3	GRLF1	52113772	52200173		Vogels, N.  et al. 2005	16210701				Glucocorticoid receptor DNA binding factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004491.3			CDC GDPinfo	2909	Hs.509447			The American journal of clinical nutrition. 2005 Oct;82(4):740-6	Relation of weight maintenance and dietary restraint to peroxisome proliferator-activated receptor gamma2, glucocorticoid receptor, and ciliary neurotrophic factor polymorphisms.		605277	21553	2	2005	 The different genotypes of the PPARgamma2 and GRL genes contribute to WM, either directly (GRL) or indirectly (PPARgamma2 and GRL) via baseline body mass index and waist circumference, and to changes in Three-Factor Eating Questionnaire scores.											
124282	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p21.2	GRM2	51716145	51727665		Joo A et al. 2001	11317221				Glutamate receptor, metabotropic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000839.2			KGB	2912	Hs.121510			Molecular psychiatry. 2001 Mar;6(2):186-92	Structure and polymorphisms of the human metabotropic glutamate receptor type 2 gene (GRM2): analysis of association with schizophrenia.		604099	2957	1	2001	As we found no statistically significant differences in allele frequencies of each polymorphism, these polymorphisms apparently do not play a major role in schizophrenia.	Case:213:schizophrenics:Japan;Control:220 controls (not specified in abstract)										
124283	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p21.2	GRM2	51716145	51727665		Joo, A.  et al. 2001	11317221				Glutamate receptor, metabotropic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000839.2			CDC GDPinfo	2912	Hs.121510			Molecular psychiatry. 2001 Mar;6(2):186-92	Structure and polymorphisms of the human metabotropic glutamate receptor type 2 gene (GRM2):analysis of association with schizophrenia.		604099	10899	2	2001	As we found no statistically significant differences in allele frequencies of each polymorphism, these polymorphisms apparently do not play a major role in schizophrenia.	Case:213:schizophrenics:Japan;Control:220 controls (not specified in abstract)										
124278	N	schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.1-qter	GRIN2D	53589943	53639205		Williams, N. M.  et al. 2002	12082569				Glutamate receptor, ionotropic, N-methyl D-aspartate 2D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000836.1			CDC GDPinfo	2906	Hs.445015			Molecular psychiatry. 2002 ;7(5):508-14	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.		602717	26884	2	2002	Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.	Control:184 Caucasian blood donor controls;Case:184 Caucasian schizophrenics:Britain										
124279	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	GRK4	2935140	2938375		Speirs, H. J.  et al. 2004	15097232				G protein-coupled receptor kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182982.2			CDC GDPinfo	2868	Hs.32959			Journal of hypertension. 2004 May;22(5):931-6	Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension.		137026	13408	2	2004	 Genetic variation in GRK4gamma was associated with HT in the subjects studied.	Case:168 unrelated, Caucasian essential hypertensive (HT):patients;Control:312 normotensive controls										
124280		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	GRK4	2935140	2938375		Bengra, C.  et al. 2002	12446468				G protein-coupled receptor kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182982.2	Italian		CDC GDPinfo	2868	Hs.32959			Clinical chemistry. 2002 Dec;48(12):2131-40	Genotyping of essential hypertension single-nucleotide polymorphisms by a homogeneous PCR method with universal energy transfer primers.		137026	24486	2	2002	 We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.	Case:60 Italian hypertensive patients;Control:60 normotensive controls										
124275		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	12	12p12	GRIN2B	13605410	14024319		Foley, P. F.  et al. 2004	15542698				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2	Caucasian		CDC GDPinfo	2904	Hs.445066			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		138252	27431	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
124276	N	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q25	GRIN2C	70349762	70368561		Williams, N. M.  et al. 2002	12082569				Glutamate receptor, ionotropic, N-methyl D-aspartate 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000835.3			CDC GDPinfo	2905	Hs.436980			Molecular psychiatry. 2002 ;7(5):508-14	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.		138254	26033	2	2002	Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.	Control:184 Caucasian blood donor controls;Case:184 Caucasian schizophrenics:Britain										
124277		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.1-qter	GRIN2D	53589943	53639205		Makino, C.  et al. 2005	16094258				Glutamate receptor, ionotropic, N-methyl D-aspartate 2D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000836.1			CDC GDPinfo	2906	Hs.445015			Psychiatric genetics. 2005 Sep;15(3):215-21	Identification of single-nucleotide polymorphisms in the human N-methyl-D-aspartate receptor subunit NR2D gene, GRIN2D, and association study with schizophrenia.		602717	10896	2	2005	 We conclude that the GRIN2D locus is a possible genomic region contributing to schizophrenia susceptibility in the Japanese population.											
124272		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	12	12p12	GRIN2B	13605410	14024319		Arning, L.  et al. 2005	15742215				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Neurogenetics. 2005 Feb;6(1):25-8	NR2A and NR2B receptor gene variations modify age at onset in Huntington disease.		138252	21552	2	2005	We conclude that  these two genes, coding for NR2B and NR2A subtypes mainly expressed in the striatum, may influence the variability in AO of HD. Neuroprotective strategies for HD patients and persons at risk should be reconsidered in the light of these findings.	Cohort 167 Huntington's disease patients 										
124273	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Williams, N. M.  et al. 2002	12082569				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Molecular psychiatry. 2002 ;7(5):508-14	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.		138252	24485	2	2002	Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.	Control:184 Caucasian blood donor controls;Case:184 Caucasian schizophrenics:Britain										
124274		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12p12	GRIN2B	13605410	14024319			16380905				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		138252	26883	2	2005												
124269		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12p12	GRIN2B	13605410	14024319		Wernicke, C.  et al. 2003	14573320				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Biological psychiatry. 2003 Nov;54(9):922-8	Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.		138252	21549	2	2003	 These results suggest that variants in NMDAR genes are associated with alcoholism and related traits.	Control:335 controls of German origin;Case:367 alcoholic subjects of German origin										
124270	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Qin, S.  et al. 2005	15841096				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2		China	CDC GDPinfo	2904	Hs.445066			European journal of human genetics. 2005 Jul;13(7):807-14	An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray.		138252	21550	2	2005	These findings suggest that the combined effects of the polymorphisms in the GRIN1 and GRIN2B genes might be involved in the etiology of schizophrenia.	Control:140 Chinese control subjects;Case:253 Chinese patients with schizophrenia										
124271		schizophrenia; d-serine	PSYCH	PSY	Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Iwayama, Y.  et al. 2005	16266783				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Neuroscience letters. 2006 Feb;394(2):101-4	Analysis of correlation between serum d-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes.		138252	21551	2	2005												
124266	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Chiu, H. J.  et al. 2003	12824739				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2	Chinese		CDC GDPinfo	2904	Hs.445066			Neuropsychobiology. 2003 ;47(4):178-81	Association analysis of the genetic variants of the N-methyl D-aspartate receptor subunit 2b (NR2b) and treatment-refractory schizophrenia in the Chinese.		138252	17006	2	2003	These results show that GRIN2B genetic variations were not a major risk factor for treatment-refractory schizophrenic patients, but may influence the effect of clozapine during treatment.	Control:176 normal subjects;Case:193 Chinese treatment-refractory schizophrenic patients										
124267	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Di Maria, E.  et al. 2004	15211626				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2		Italy	CDC GDPinfo	2904	Hs.445066			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):27-9	Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: A case-control study		138252	17007	2	2004	These results suggest that GRIN2B variations might be linked with susceptibility to schizophrenia. Replication studies on larger samples are warranted to further test this hypothesis.	Control:156:controls;Case:188 Italian patients with schizophrenia										
124268		cognitive function	PSYCH	PSY		12	12p12	GRIN2B	13605410	14024319		Tsai, S. J.  et al. 2002	11979061				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Neuropsychobiology. 2002 ;45(3):128-30	Dopamine D2 receptor and N-methyl-D-aspartate receptor 2B subunit genetic variants and intelligence.		138252	21548	2	2002	These results suggest that genetic variants of the DRD2 gene may play a role in cognitive function. Considering the major role played by the dopaminergic system in general cognitive function, genetic variants of the dopamine receptors and those involved in metabolism and modulation of reuptake should be tested to improve gene-based prediction of general cognitive function.											
124263	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12p12	GRIN2B	13605410	14024319		Tsai, S. J.  et al. 2002	11956967				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2	Chinese		CDC GDPinfo	2904	Hs.445066			J Neural Transm. 2002 Apr;109(4):483-8	Association analysis for genetic variants of the NMDA receptor 2b subunit (GRIN2B) and Parkinson's disease.		138252	17001	2	2002	Our negative findings suggest that it is unlikely that the GRIN2B C2664T polymorphism plays a substantial role in conferring susceptibility to PD in the Chinese population. Further studies with other genetic variations of NMDA subunits, relating either to PD or to the therapeutic response for PD, are suggested.	Case:101 Chinese Parkinson's disease patients;Control:108 controls not otherwise specified in abstract										
124264	Y	schizophrenia	PSYCH	PSY	Pheochromocytoma|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Miyatake, R.  et al. 2002	12476325			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Molecular psychiatry. 2002 ;7(10):1101-6	Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia.		138252	17004	2	2002	These findings suggest that the T-200G variant causes dysfunction of NMDA receptors consisting of the NR2B subunit and may be involved in the development of schizophrenia. Replication studies of independent samples and family-based association studies are necessary to further evaluate the significance of our findings.	Case:100 patients with schizophrenia;Control:100:controls										
124265	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	12	12p12	GRIN2B	13605410	14024319		Schumann, G.  et al. 2003	12556902				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Molecular psychiatry. 2003 Jan;8(1):2-Nov	No association of alcohol dependence with a NMDA-receptor 2B gene variant.		138252	17005	2	2003	In conclusion, our results show no increased risk for alcohol dependence associated with a C2873T-SNP genotype of the NR2B subjunit, and show no significant association with the alcohol-dependent phenotypes presumed to carry a high genetic load. Although the NR2B subunit remains an important candidate gene for alcoholism, our results suggest that the C2873T polymporphism is not a promising lead to be followed up in larger patients samples. A systematic assessment of all the informative genetic variations of the NR2B subunit for an association with alcohol dependence is warranted.	Case:204 alcohol dependent patients;Control:258 unrelated controls										
124260		schizophrenia	PSYCH	PSY	Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Ohtsuki, T.  et al. 2001	11317224				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Molecular psychiatry. 2001 Mar;6(2):211-6	Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia		138252	16998	2	2001	Although we did not detect NMDAR2B protein variants, our findings support the possibility that the GRIN2B gene or a locus in linkage disequilibrium with it may confer susceptibility to schizophrenia. Replication studies in independent samples are warranted.	Case:268 patients with schizophrenia:Japan;Control:337 control subjects:Japan										
124261	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Hong, C. J.  et al. 2001	11807413				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Psychiatric genetics. 2001 Dec;11(4):219-22	Association analysis for NMDA receptor subunit 2B (GRIN2B) genetic variants and psychopathology and clozapine response in schizophrenia.		138252	16999	2	2001	Although replication of this research is required to confirm the results, an association for the GRIN2B C2664T polymorphism and clozapine treatment is suggested from our findings, which may assist in the prediction of optimal dosage for schizophrenic patients.	Cohort 100 schizophrenic patients 	clozapine									
124262	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p12	GRIN2B	13605410	14024319		Tsai, S. J.  et al. 2002	11844890				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			Dementia and geriatric cognitive disorders. 2002 ;13(2):91-4	Association analysis for the genetic variants of the NMDA receptor subunit 2b and Alzheimer's disease.		138252	17000	2	2002	The distribution of the NR2b genotypes and alleles did not differ significantly between AD patients and controls, however, suggesting that it is unlikely that the NR2b C2664T polymorphism plays a substantial role in conferring susceptibility to AD. We propose that other genetic variations of the NMDA subunits, relating either to AD or to the therapeutic response for NMDA partial agonists, may need further investigation.	Control:114 normal controls;Case:132 Alzheimer's disease patients										
124257	Y	alcoholism-related traits	CHEMDEPENDENCY	CHEM	Alcoholism	12	12p12	GRIN2B	13605410	14024319		Wernicke C 2003	14573320				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			KGB	2904	Hs.445066			Biological psychiatry. 2003 Nov;54(9):922-8	Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.		138252	2937	1	2003	 These results suggest that variants in NMDAR genes are associated with alcoholism and related traits.	Control:335 controls of German origin;Case:367 alcoholic subjects of German origin										
124258		schizophrenia	PSYCH	PSY	Pheochromocytoma|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Miyatake R et al. 2002	12476325	T-200G variant		promoter	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834			KGB	2904	Hs.445066			Molecular psychiatry. 2002 ;7(10):1101-6	Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia.		138252	2938	1	2002	These findings suggest that the T-200G variant causes dysfunction of NMDA receptors consisting of the NR2B  (GRIN2B) subunit and may be involved in the development of schizophrenia											
124259	N	alcohol abuse; alcohol withdrawal	CHEMDEPENDENCY	CHEM	Seizures|Alcohol Withdrawal Delirium|Alcoholism|Substance Withdrawal Syndrome	12	12p12	GRIN2B	13605410	14024319		Tadic, A.  et al. 2005	15812607				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDPinfo	2904	Hs.445066			European archives of psychiatry and clinical neuroscience. 2005 Apr;255(2):129-35	Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens.		138252	10894	2	2005	 Neither the analyzed SNPs nor any of their haplotypes likely modify susceptibility to alcohol dependence or withdrawal-related phenotypes.	Case:377 alcoholic patients;Control:464 healthy volunteers										
124254		schizophrenia	PSYCH	PSY	Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Itokawa, M.  et al. 2003	12724619			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDPinfo	2903	Hs.567280			Pharmacogenetics. 2003 May;13(5):271-8	A microsatellite repeat in the promoter of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene suppresses transcriptional activity and correlates with chronic outcome in schizophrenia.		138253	16997	2	2003	These results illustrate a genotype-phenotype correlation in schizophrenia and suggest that the longer (GT)(n) stretch may act as a risk-conferring factor that worsens chronic outcome by reducing GRIN2A levels in the brain.	Case:375:schizophrenics;Control:378:controls										
124255		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	16	16p13.2	GRIN2A	9762922	10184112		Arning, L.  et al. 2005	15742215				Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDPinfo	2903	Hs.567280			Neurogenetics. 2005 Feb;6(1):25-8	NR2A and NR2B receptor gene variations modify age at onset in Huntington disease.		138253	17008	2	2005	We conclude that  these two genes, coding for NR2B and NR2A subtypes mainly expressed in the striatum, may influence the variability in AO of HD. Neuroprotective strategies for HD patients and persons at risk should be reconsidered in the light of these findings.	Cohort 167 Huntington's disease patients 										
124256	N	schizophrenia	PSYCH	PSY	Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Williams, N. M.  et al. 2002	12082569				Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDPinfo	2903	Hs.567280			Molecular psychiatry. 2002 ;7(5):508-14	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.		138253	21547	2	2002	Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.	Control:184 Caucasian blood donor controls;Case:184 Caucasian schizophrenics:Britain										
124251		bipolar disorder	PSYCH	PSY	Bipolar Disorder	16	16p13.2	GRIN2A	9762922	10184112		Itokawa M 2003	12809987			5'promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			KGB	2903	Hs.567280			Neuroscience letters. 2003 Jul;345(1):53-6	Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans.		138253	2936	1	2003												
124252	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Iwayama-Shigeno, Y.  et al. 2005	15774266			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2	Japanese	Japan	CDC GDPinfo	2903	Hs.567280			Neuroscience letters. 2005 Apr;378(2):102-5	Extended analyses support the association of a functional (GT)n polymorphism in the GRIN2A promoter with Japanese schizophrenia.		138253	10891	2	2005	These results suggest a probable genetic effect for the GRIN2A promoter (GT)(n) variation on the predisposition to schizophrenia in Japanese cohorts.	Case:672 Japanese schizophrenic patients;Control:686:controls										
124253		schizophrenia; d-serine	PSYCH	PSY	Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Iwayama, Y.  et al. 2005	16266783			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDPinfo	2903	Hs.567280			Neuroscience letters. 2006 Feb;394(2):101-4	Analysis of correlation between serum d-serine levels and functional promoter polymorphisms of GRIN2A and GRIN2B genes.		138253	10895	2	2005												
124248	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Williams, N. M.  et al. 2002	12082569				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Molecular psychiatry. 2002 ;7(5):508-14	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.		138249	17003	2	2002	Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia.	Control:184 Caucasian blood donor controls;Case:184 Caucasian schizophrenics:Britain										
124249	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Qin, S.  et al. 2005	15841096				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832		China	CDC GDPinfo	2902	Hs.558334			European journal of human genetics. 2005 Jul;13(7):807-14	An association study of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) and NR2B subunit gene (GRIN2B) in schizophrenia with universal DNA microarray.		138249	17009	2	2005	These findings suggest that the combined effects of the polymorphisms in the GRIN1 and GRIN2B genes might be involved in the etiology of schizophrenia.	Control:140 Chinese control subjects;Case:253 Chinese patients with schizophrenia										
124250		weight loss	METABOLIC	MET	Obesity|Body Weight|Weight Loss	9	9q34.3	GRIN1	139153429	139183029		Spraggs, C. F.  et al. 2005	16272960				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Pharmacogenetics and genomics. 2005 Dec;15(12):883-9	Pharmacogenetics and obesity: common gene variantsinfluence weight loss response of the norepinephrine/dopamine transporter inhibitor GW320659 in obese subjects.		138249	19515	2	2005	 Polymorphisms in SLC6A2 and GRIN1 could be used to maximize effective obesity pharmacotherapy by norepinephrine/dopamine transporter inhibitors by identifying patients that may be predisposed to particularly good treatment weight loss response.		GW320659									
124246		schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Paus, S.  et al. 2004	15564900				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Psychiatric genetics. 2004 Dec;14(4):233-4	Systematic screening for mutations in the human N-methyl-D-aspartate receptor 1 gene in schizophrenic patients from the German population.		138249	16995	2	2004	Our results suggest that the NMDAR1 subunit is not frequently involved in the development of schizophrenia in the German population.	Control:controls;Case:46 German unrelated schizophrenic patients										
124247	Y	seizures	NEUROLOGICAL	NEUR	Alcohol Withdrawal Seizures|Alcohol-Related Disorders|Substance Withdrawal Syndrome|Genetic Predisposition to Disease	9	9q34.3	GRIN1	139153429	139183029		Rujescu, D.  et al. 2005	15635650				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):85-7	GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal.		138249	16996	2	2005	These findings support the hypothesis that the GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal. This novel finding warrants replication.	Case:442 alcohol-dependent patients from two case-control:samples;Control:442 unrelated controls from two case-control samples										
124242	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Begni, S.  et al. 2003	12679240	G1001C		promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Biological psychiatry. 2003 Apr;53(7):617-9	Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia.		138249	10890	2	2003	The association reported in this study suggests that the GRIN1 gene is a good candidate for the susceptibility to schizophrenia.	Case:139 Italian schizophrenic patients;Control:145 healthy control subjects										
124243	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q34.3	GRIN1	139153429	139183029		Wernicke, C.  et al. 2003	14573320				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Biological psychiatry. 2003 Nov;54(9):922-8	Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.		138249	10892	2	2003	 These results suggest that variants in NMDAR genes are associated with alcoholism and related traits.	Control:335 controls of German origin;Case:367 alcoholic subjects of German origin										
124244	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Sakurai, K.  et al. 2000	11109007				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			Neuroscience letters. 2000 Dec;296(3-Feb):168-70	Mutation analysis of the N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia.		138249	16993	2	2000	Results indicate that genomic variations of the GRIN1 gene are not likely to be involved substantially in the etiology of schizophrenia.	Control:controls;Case:48 Japanese patients with schizophrenia										
124239	Y	alcoholism-related traits	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q34.3	GRIN1	139153429	139183029		Wernicke C 2003	14573320				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			KGB	2902	Hs.558334			Biological psychiatry. 2003 Nov;54(9):922-8	Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.		138249	2934	1	2003	 These results suggest that variants in NMDAR genes are associated with alcoholism and related traits.	Control:335 controls of German origin;Case:367 alcoholic subjects of German origin										
124240	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029	n	Hammond L et al. 2002	12210277			splice variant	glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			KGB	2902	Hs.558334			American journal of medical genetics. 2002 Aug;114(6):631-6	Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia.		138249	2935	1	2002												
124241	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Tani, A.  et al. 2002	12363394				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832	Japanese		CDC GDPinfo	2902	Hs.558334			Schizophrenia research. 2002 Nov;58(1):83-6	Polymorphism analysis of the upstream region of the human N-methyl-D-aspartate receptor subunit NR1 gene (GRIN1): implications for schizophrenia.		138249	10889	2	2002	revealed no significant association between schizophrenia and the SNPs in the upstream region of GRIN1, these SNPs apparently do not play a critical role in the pathogenesis of schizophrenia in the Japanese population.	Case:191-196 Japanese patients with schizophrenia;Control:202-216:controls										
124235		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	1	1p34-p33	GRIK3	37039200	37272431		Delorme, R.  et al. 2004	15094479				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			CDC GDPinfo	2899	Hs.2389			Neuroreport. 2004 Mar;15(4):699-702	Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder.		138243	21545	2	2004	These findings suggest the need for further investigation of the role of GRIK2 in OCD.	Control:141:controls;Case:156 obsessive compulsive disorder patients										
124236		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q22.3	GRIK4	120036237	120362179			16325263				Glutamate receptor, ionotropic, kainate 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014619.2			CDC GDPinfo	2900	Hs.568901			Psychiatry research. 2006 Jan;141(1):39-51	Association study of polymorphisms in the GluR7, KA1 and KA2 kainate receptor genes (GRIK3, GRIK4, GRIK5) with schizophrenia		600282	21546	2	2005	We conclude that  SNPs in the gene regions of GRIK3, GRIK4 or GRIK5 do not play a major role in schizophrenia pathogenesis in the Japanese population.											
124238	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Begni S et al. 2003	12679240			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			KGB	2902	Hs.558334			Biological psychiatry. 2003 Apr;53(7):617-9	Association between the G1001C polymorphism in the GRIN1 gene promoter region and schizophrenia.		138249	2933	1	2003	The association reported in this study suggests that the GRIN1 gene is a good candidate for the susceptibility to schizophrenia.	Case:139 Italian schizophrenic patients;Control:145 healthy control subjects										
124232		delirium tremens, alcohol withdrawal-induced	UNKNOWN	UNK	Alcohol Withdrawal Seizures|Alcohol Withdrawal Delirium|Alcoholism	1	1p34-p33	GRIK3	37039200	37272431			16314883				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			CDC GDPinfo	2899	Hs.2389			The pharmacogenomics journal. 2006 Jan-Feb;6(1):34-41	Ionotropic glutamate receptor gene GRIK3 SER310ALA functional polymorphism is related to delirium tremens in alcoholics		138243	10886	2	2005												
124233		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	1	1p34-p33	GRIK3	37039200	37272431			16356644	Ser310Ala			Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2	Polish		CDC GDPinfo	2899	Hs.2389			Neuroscience letters. 2005	Family-based and case-control association studies of glutamate receptor GRIK3 Ser310Ala polymorphism in Polish patients and families with alcohol dependence		138243	10887	2	2005												
124234		schizophrenia	PSYCH	PSY	Schizophrenia	1	1p34-p33	GRIK3	37039200	37272431			16325263				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			CDC GDPinfo	2899	Hs.2389			Psychiatry research. 2006 Jan;141(1):39-51	Association study of polymorphisms in the GluR7, KA1 and KA2 kainate receptor genes (GRIK3, GRIK4, GRIK5) with schizophrenia		138243	10888	2	2005	We conclude that  SNPs in the gene regions of GRIK3, GRIK4 or GRIK5 do not play a major role in schizophrenia pathogenesis in the Japanese population.											
124228		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	6	6q16.3-q21	GRIK2	101953674	102623474		Delorme, R.  et al. 2004	15094479				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2			CDC GDPinfo	2898	Hs.98262			Neuroreport. 2004 Mar;15(4):699-702	Frequency and transmission of glutamate receptors GRIK2 and GRIK3 polymorphisms in patients with obsessive compulsive disorder.		138244	10883	2	2004	These findings suggest the need for further investigation of the role of GRIK2 in OCD.	Control:141:controls;Case:156 obsessive compulsive disorder patients										
124229	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p34-p33	GRIK3	37039200	37272431		Begni S et al. 2002	11986986				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			KGB	2899	Hs.2389			Molecular psychiatry. 2002 ;7(4):416-8	Association between the ionotropic glutamate receptor kainate 3 (GRIK3) ser310ala polymorphism and schizophrenia.		138243	2932	1	2002	We found a significant difference in the genotype distribution and in particular considering the ala allele as dominant. This finding suggests a potential role for GRIK3 for susceptibility to schizophrenia.	Control:116:controls;Case:99 schizophrenic patients										
124230	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p34-p33	GRIK3	37039200	37272431		Begni, S.  et al. 2002	11986986				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			CDC GDPinfo	2899	Hs.2389			Molecular psychiatry. 2002 ;7(4):416-8	Association between the ionotropic glutamate receptor kainate 3 (GRIK3) ser310ala polymorphism and schizophrenia.		138243	10884	2	2002	We found a significant difference in the genotype distribution and in particular considering the ala allele as dominant. This finding suggests a potential role for GRIK3 for susceptibility to schizophrenia.	Control:116:controls;Case:99 schizophrenic patients										
124225	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6q16.3-q21	GRIK2	101953674	102623474		Shibata H et al. 2002	12467946				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2			KGB	2898	Hs.98262			Psychiatry research. 2002 Dec;113(2-Jan):59-67	Association study of polymorphisms in the GluR6 kainate receptor gene (GRIK2) with schizophrenia.		138244	2930	1	2002	We conclude that  GRIK2 does not play a major role in the pathogenesis of schizophrenia in the Japanese population.	Case:100:aschizophrenics;Control:100:controls										
124226	N	idiopathic generalized epilepsies	OTHER	OTH	Epilepsy, Generalized	6	6q16.3-q21	GRIK2	101953674	102623474	n	Sander T et al. 1995	7675232				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2			KGB	2898	Hs.98262			Neurology. 1995 Sep;45(9):1713-20	Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies.		138244	2931	1	1995												
124227	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6q16.3-q21	GRIK2	101953674	102623474		Shibata, H.  et al. 2002	12467946				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2	Japanese		CDC GDPinfo	2898	Hs.98262			Psychiatry research. 2002 Dec;113(2-Jan):59-67	Association study of polymorphisms in the GluR6 kainate receptor gene (GRIK2) with schizophrenia.		138244	10882	2	2002	We conclude that  GRIK2 does not play a major role in the pathogenesis of schizophrenia in the Japanese population.	Case:100:aschizophrenics;Control:100:controls										
124220	N	schizophrenia	PSYCH	PSY	Schizophrenia	21	21q22.11	GRIK1	29831124	30234153		Shibata H et al. 2001	11702055				Glutamate receptor, ionotropic, kainate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000830.3			KGB	2897	Hs.473554			Psychiatric genetics. 2001 Sep;11(3):139-44	Association study of polymorphisms in the GluR5 kainate receptor gene (GRIK1) with schizophrenia.		138245	2926	1	2001	We conclude that  GRIK1 does not play a major role in schizophrenia pathogenesis in the Japanese population.	Case:193 Japanese schizophrenics;Control:199 healthy controls										
124222	N	schizophrenia	PSYCH	PSY	Schizophrenia	21	21q22.11	GRIK1	29831124	30234153		Shibata, H.  et al. 2001	11702055				Glutamate receptor, ionotropic, kainate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000830.3	Japanese		CDC GDPinfo	2897	Hs.473554			Psychiatric genetics. 2001 Sep;11(3):139-44	Association study of polymorphisms in the GluR5 kainate receptor gene (GRIK1) with schizophrenia		138245	10881	2	2001	We conclude that  GRIK1 does not play a major role in schizophrenia pathogenesis in the Japanese population.	Case:193 Japanese schizophrenics;Control:199 healthy controls										
124223	Y	autism	PSYCH	PSY	Autistic Disorder	6	6q16.3-q21	GRIK2	101953674	102623474	P = 0.007	Jamain S 2002	11920157				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2			KGB	2898	Hs.98262			Molecular psychiatry. 2002 ;7(3):302-10			138244	2928	1	2002												
124216	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q22	GRIA4	104986009	105358029		Guo, S.  et al. 2004	15450689				Glutamate receptor, ionotrophic, AMPA 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000829.1	Chinese		CDC GDPinfo	2893	Hs.503743			Neuroscience letters. 2004 Oct;369(2):168-72	No genetic association between polymorphisms in the AMPA receptor subunit GluR4 gene (GRIA4) and schizophrenia in the Chinese population		138246	10880	2	2004	Our results suggest that the three SNPs of GRIA4 are unlikely to play a major role in the susceptibility to schizophrenia in the Chinese population.	Case:372 Chinese schizophrenic cases;Control:392:controls										
124217		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q22	GRIA4	104986009	105358029		Makino, C.  et al. 2003	12497607				Glutamate receptor, ionotrophic, AMPA 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000829.1	Japanese		CDC GDPinfo	2893	Hs.503743			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):17-22	Positive association of the AMPA receptor subunit GluR4 gene (GRIA4) haplotype with schizophrenia:linkage disequilibrium mapping using SNPs evenly distributed across the gene region.		138246	16991	2	2003	These results suggest that at least one susceptibility locus for schizophrenia is located within or very close to the GRIA4 region in Japanese.	Case:100 Japanese schizophrenics;Control:100:controls										
124218		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	10	10q22	GRID1	87349291	88116230			16380905				Glutamate receptor, ionotropic, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017551.1			CDC GDPinfo	2894	Hs.530653			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		610659	26032	2	2005												
124213	N	intrauterine growth	REPRODUCTION	REP	Birth Weight	7	7p12-p11.2	GRB10	50625258	50828652		Kukuvitis, A.  et al. 2004	15506681				Growth factor receptor-bound protein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005311.3			CDC GDPinfo	2887	Hs.164060			Journal of pediatric endocrinology & metabolism. 2004 Sep;17(9):1215-20	Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10		601523	11603	2	2004	Thus, we found no evidence that IGF2R variants modulate intrauterine growth within the normal range. If such variants exist in GRB10, they are not in linkage disequilibrium with the marker studied.	Cohort 97 normal newborns Greece 										
124214		hyperoxaluias	OTHER	OTH	Hyperoxaluria, Primary	9	9q12	GRHPR	37412680	37426986		Rumsby, G.  et al. 2004	15327387				Glyoxylate reductase/hydroxypyruvate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012203.1			CDC GDPinfo	9380	Hs.155742			Kidney international. 2004 Sep;66(3):959-63	Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias		604296	21544	2	2004	 Limited mutation analysis can provide a useful first line test for PH1 and PH2 in patients in whom primary hyperoxaluria is suspected and in whom secondary causes have been excluded. Those patients in whom a single mutation, or no mutation, is found can then be selectively targeted for liver biopsy.	Cohort 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis 										
124215	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q22	GRIA4	104986009	105358029		Makino C et al. 2003	12497607				Glutamate receptor, ionotrophic, AMPA 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000829.1			KGB	2893	Hs.503743			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):17-22	Positive association of the AMPA receptor subunit GluR4 gene (GRIA4) haplotype with schizophrenia: linkage disequilibrium mapping using SNPs evenly distributed across the gene region.		138246	2924	1	2003	These results suggest that at least one susceptibility locus for schizophrenia is located within or very close to the GRIA4 region in Japanese.	Case:100 Japanese schizophrenics;Control:100:controls										
124210		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	19	19p13.3	GPX4	1054935	1057787		Watanabe, I.  et al. 2003	12732844				Glutathione peroxidase 4 (phospholipid hydroperoxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002085.3	Japanese	Japan	CDC GDPinfo	2879	Hs.433951			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138322	28410	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124211		infertility, male	REPRODUCTION	REP	Osteoporosis|Genetic Predisposition to Disease	17	17p11.2	GRAP	18864714	18891061		Lei, S. F.  et al. 2003	12491092				GRB2-related adaptor protein-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006613.3	Chinese	China	CDC GDPinfo	10750	Hs.567416			Journal of bone and mineral metabolism. 2003 ;21(1):34-42	Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity.		604330	21543	2	2003	Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.	Cohort 124 random individuals 										
124212		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	22	22q13.2	GRAP2	38627031	38710303		Saito, T.  et al. 2004	15063762				GRB2-related adaptor protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004810.2		Japan	CDC GDPinfo	9402	Hs.517499			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		604518	28286	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
124207		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	3	3p21.3	GPX1	49369612	49370795		Watanabe, I.  et al. 2003	12732844				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Japanese	Japan	CDC GDPinfo	2876	Hs.76686			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138320	28335	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124208		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	5	5q23	GPX3	150380191	150388747		Watanabe, I.  et al. 2003	12732844				Glutathione peroxidase 3 (plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002084.3	Japanese	Japan	CDC GDPinfo	2878	Hs.386793			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		138321	28376	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
124209	N	infertility, male	REPRODUCTION	REP	Infertility, Male	19	19p13.3	GPX4	1054935	1057787		Maiorino, M.  et al. 2002	12606444				Glutathione peroxidase 4 (phospholipid hydroperoxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002085.3			CDC GDPinfo	2879	Hs.433951			Biology of reproduction. 2003 Apr;68(4):1134-41	Genetic variations of gpx-4 and male infertility in humans.		138322	16989	2	2002	It is concluded that gpx-4 polymorphism cannot generally account for the correlation of PHGPx content of sperm and fertility-related parameters but deserves further attention as a potential cause of infertility in particular cases.	Control:21 fertile controls;Case:42 infertile patients										
124204		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Esfandiary, H.  et al. 2005	15774926				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		138320	27915	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
124205		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Iwai, N.  et al. 2004	15167446				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Japanese	Japan	CDC GDPinfo	2876	Hs.76686			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		138320	27916	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
124206		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Kiyohara, C.  et al. 2002	12234692				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		138320	28049	2	2002	Review article		smoking (tobacco)									
124201		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p21.3	GPX1	49369612	49370795		Knight, J. A.  et al. 2004	14744747				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Ontario	CDC GDPinfo	2876	Hs.76686			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):146-9	Genetic variants of GPX1 and SOD2 and breast cancer risk at the Ontario site of the Breast Cancer Family Registry.		138320	19669	2	2004	There is a significant trend of increasing risk with increasing number of alleles with four GCG repeats (P = 0.03). This variant has not previously been reported to be associated with breast cancer.	Control:372:controls;Case:399 breast cancer cases										
124202	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Ichimura, Y.  et al. 2004	15247771				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			The Journal of urology. 2004 Aug;172(2):728-32	Increased risk of bladder cancer associated with a glutathione peroxidase 1 codon 198 variant.		138320	19672	2	2004	 The GPX1 Pro/Leu genotype may significantly increase the risk of bladder cancer and the increased risk may be modified by the Ala-9Val MnSOD polymorphism. The GPX1 genotype may further affect the disease status of bladder cancer.	Control:209 normal controls;Case:213 bladder cancer patients										
124203	N	diabetic neuropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	3	3p21.3	GPX1	49369612	49370795			15125229				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Molekuliarnaia biologiia. 2004 Mar-Apr;38(2):244-9	[Search for the association of polymorphic markers for genes coding for antioxidant defense enzymes, with development of diabetic polyneuropathies in patients with type 1 diabetes mellitus]		138320	21542	2	2004	On this evidence, these markers were not associated with DPN in the sample examined.	Case:86 patients with type 1 diabetes with polyneuropathy and diabetic record no more than 5 years;Control:94 diabetic patients without polyneuropathy and diabetic record of at least 10 years										
124198	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	3	3p21.3	GPX1	49369612	49370795		Winter, J. P.  et al. 2003	12655278				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Europe	CDC GDPinfo	2876	Hs.76686			Coronary artery disease. 2003 Apr;14(2):149-53	Glutathione peroxidase 1 genotype is associated with an increased risk of coronary artery disease.		138320	16986	2	2003	 We conclude that individuals possessing one or two ALA6 alleles appear to be at a modest increased risk of CAD. This observation merits further investigation in other patient populations.	Control:146:controls;Case:207 men with angiographic evidence of significant coronary artery disease										
124199	Y	atherosclerosis, generalized; vascular disease	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Diabetes Mellitus, Type 2	3	3p21.3	GPX1	49369612	49370795		Hamanishi, T.  et al. 2004	15331559				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Japanese		CDC GDPinfo	2876	Hs.76686			Diabetes. 2004 Sep;53(9):2455-60	Functional variants in the glutathione peroxidase-1 (GPx-1) gene are associated with increased intima-media thickness of carotid arteries and risk of macrovascular diseases in japanese type 2 diabetic patients.		138320	16988	2	2004	These results suggest that functional variants in the GPx-1 gene are associated with increased IMT of carotid arteries and risk of cardiovascular and peripheral vascular diseases in type 2 diabetic patients.	Cohort 184 Japanese type 2 diabetic patients 										
124200	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Yang, P.  et al. 2004	15192016				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Carcinogenesis. 2004 Oct;25(10):1935-44	Glutathione pathway genes and lung cancer risk in young and old populations.		138320	17049	2	2004	Results from logistic regression analyses supported the results from RPART models. GSH pathway genes are associated with lung cancer development in young and old populations through differing interactions with cigarette smoking and family history. Carefully evaluating multiple levels of gene-environment and gene-gene interactions is critical in assessing lung cancer risk.	Control:234 controls (165 young, 69 old) consecutively enrolled at the Mayo Clinic;Case:237 primary lung cancer patients (170 young, 67 old) consecutively enrolled at the Mayo Clinic:US:1997-2001	smoking (tobacco)									
124195		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Ravn-Haren, G.  et al. 2005	16287877	Pro198Leu			Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Carcinogenesis. 2005	Associations between GPX1 Pro198Leu polymorphism, erythrocyte GPX activity, alcohol consumption and breast cancer risk in a prospective cohort study.		138320	10879	2	2005												
124196		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Skuladottir, H.  et al. 2005	15829318				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Denmark|Norway	CDC GDPinfo	2876	Hs.76686			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		138320	10981	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
124197		colorectal cancer	CANCER	CAN	Adenoma|Adenocarcinoma|Colorectal Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Hansen, R.  et al. 2005	15946795	Ser326Cys			Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Norway	CDC GDPinfo	2876	Hs.76686			Cancer letters. 2005 Nov;229(1):85-91	GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer.		138320	13001	2	2005												
124191	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	3	3p21.3	GPX1	49369612	49370795		Kote-Jarai, Z.  et al. 2002	12496980				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Prostate cancer and prostatic diseases. 2002 ;5(3):189-92	Association between the GCG polymorphism of the selenium dependent GPX1 gene and the risk of young onset prostate cancer.		138320	10875	2	2002	The result of this study suggests that the GPX1 genotype is unlikely to be associated with the risk of developing prostate cancer.	Control:260:controls;Case:267 prostate cancer cases										
124192	Y	head and neck cancer	CANCER	CAN	Neoplasms, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary	3	3p21.3	GPX1	49369612	49370795		Jefferies, S.  et al. 2005	15878749				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Oral oncology. 2005 May;41(5):455-61	Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck		138320	10876	2	2005	These results suggest that polymorphisms in the GPX1 gene may be a marker for SPT development and further studies are indicated.	Case:61 patients with second primary tumor after a primary squamous cell cancer of the head and neck										
124194		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	3	3p21.3	GPX1	49369612	49370795		Zhao, H.  et al. 2005	16230136				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Urology. 2005 Oct;66(4):769-74	Glutathione peroxidase 1 gene polymorphism and risk of recurrence in patients with superficial bladder cancer.		138320	10878	2	2005	 Our findings suggest that a genetic polymorphism in the hGPX1 gene may serve as a molecular marker for monitoring bladder cancer recurrence.											
124188		diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Hypertension|Diabetes Mellitus, Type 2	3	3p21.3	GPX1	49369612	49370795		Sergeeva TV 2001	11357375				glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			Y Wang	2876	Hs.76686	Complications		Genetika. 2001 Mar;37(3):418-21	Polymorphism of catalase and glutathione peroxidase genes in macrovascular complications in patients with non-insulin-dependent diabetes mellitus and hypertension , trans Polimorfizm genov katalazy i glutationperoksidazy i makrososudistye oslozhneniia u b		138320	2923	1	2001												
124189	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p21.3	GPX1	49369612	49370795		Ratnasinghe, D.  et al. 2000	11103801				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Chinese		CDC GDPinfo	2876	Hs.76686			Cancer research. 2000 Nov;60(22):6381-3	Glutathione peroxidase codon 198 polymorphism variant increases lung cancer risk		138320	10873	2	2000	Due to its high prevaleYce, the hGPX1 variaYt may coYtribute sigYificaYtly to luYg caYcer risk amoYg CaucasiaYs but Yot amoYg ethYic ChiYese who do Yot exhibit this polymorphism.	Control matched controls on age (+/-5 years);Case:315 lung cancer cases										
124190		stroke; oxidative stress	CARDIOVASCULAR	CARD	Cerebrovascular Accident	3	3p21.3	GPX1	49369612	49370795		Forsberg, L.  et al. 2000	11112379	Pro198Leu			Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Blood cells, molecules & diseases. 2000 Oct;26(5):423-6	Phenotype Determination of a Common Pro-Leu Polymorphism in Human Glutathione Peroxidase 1		138320	10874	2	2000	It can be concluded that the Pro/Leu genetic variation does not appear to compromise the defense against oxidative stress in red blood cells nor to be associated with stroke.	Case:101 stroke cases;Control:214:controls										
124184	Y	asthma	IMMUNE	IMM	Asthma	11	11q12-q13.3	GPR44	60374982	60380020		Huang, J. L.  et al. 2004	15345705				G protein-coupled receptor 44	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004778.1			CDC GDPinfo	11251	Hs.299567			Human molecular genetics. 2004 Nov;13(21):2691-7	Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability		604837	16983	2	2004	Transcriptional pulsing experiments showed that when compared to a non-transmitted haplotype (1544C-1651A), the 1544G-1651G haplotype confers a significantly higher level of reporter mRNA stability, suggesting that the CRTH2 gene on Chr. 11q is a strong candidate gene for asthma.	Case African American and Chinese asthmatic individuals;Control normal controls										
124185		bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major|Schizophrenia	X	Xq28	GPR50	150095782	150100595		Thomson, P. A.  et al. 2005	15452587				G protein-coupled receptor 50	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004224.1			CDC GDPinfo	9248	Hs.567390			Molecular psychiatry. 2005 May;10(5):470-8	Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor.		300207	16984	2	2005												
124186	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	3	3p21.3	GPX1	49369612	49370795		Kote-Jarai Z et al. 2002	12496980	GCG polymorphism			glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			KGB	2876	Hs.76686			Prostate cancer and prostatic diseases. 2002 ;5(3):189-92	Association between the GCG polymorphism of the selenium dependent GPX1 gene and the risk of young onset prostate cancer.		138320	2921	1	2002	The result of this study suggests that the GPX1 genotype is unlikely to be associated with the risk of developing prostate cancer.	Control:260:controls;Case:267 prostate cancer cases										
124181		obesity	METABOLIC	MET	Obesity|Hyperphagia	22	22q13.2	MCHR1	39405044	39408764		Gibson, W. T.  et al. 2004	15166293				melanin-concentrating hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF490537			CDC GDPinfo	2847	Hs.248122			Obesity research. 2004 May;12(5):743-9	Melanin-concentrating hormone receptor mutations and human obesity: functional analysis.		601751	16981	2	2004	In conclusion, mutations in the MCH receptors are not commonly found in humans with severe early onset obesity. Clarification of the relationship of these variants to obesity must await study in other populations and/or in genetically modified mice.	Case:106 subjects with severe early onset obesity and a history of hyperphagia;Control:541 Caucasian population controls										
124182	Y	insulin	METABOLIC	MET	Insulin Resistance	19	19q13.1	FFAR1	40534294	40535197		Ogawa, T.  et al. 2005	15736105	Arg211His			G protein-coupled receptor 40	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC039436	Japanese	Japan	CDC GDPinfo	2864	Hs.248127			Metabolism:  clinical and experimental. 2005 Mar;5	GPR40 gene Arg211His polymorphism may contribute to the variation of insulin secretory capacity in Japanese men.		603820	10872	2	2005	These results suggest that the Arg211His polymorphism in the GPR40 gene may contribute to the variation of insulin secretory capacity in Japanese men.	Cohort 327 healthy Japanese men 										
124183	N	diabetes, type 2; glucose tolerance; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.1	FFAR1	40534294	40535197		Hamid, Y. H.  et al. 2005	15606695				G protein-coupled receptor 40	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC039436			CDC GDPinfo	2864	Hs.248127			Diabetic medicine. 2005 Jan;22(1):74-80	Studies of relationships between variation of the human G protein-coupled receptor 40 Gene and Type 2 diabetes and insulin release		603820	16982	2	2005	 Variations in the coding region of GPR40 do not appear to be associated with Type 2 diabetes or insulin release alterations.	Control:18 normal glucose toleran subjects;Case:43/3 patients with type 2 diabetes (n=43) and with maturity onset of diabetes in the yount patients:(n=3):Cohort:5,597 non-diabetic middle-aged subjects from the Inter99:cohort										
124177	Y	obesity; blood pressure, arterial	METABOLIC	MET	Obesity	10	10q26.13	GPR10	120342905	120345150		Bhattacharyya, S.  et al. 2003	12716769				G protein-coupled receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC095539	Caucasian	Great Britain	CDC GDPinfo	2834	Hs.248119			Diabetes. 2003 May;52(5):1296-9	Association of polymorphisms in GPR10, the gene encoding the prolactin-releasing peptide receptor with blood pressure, but not obesity, in a U.K. Caucasian population.		600895	10870	2	2003	In conclusion, we have conducted the first genetic study of GPR10 and its ligand PrRP in relation to metabolic phenotypes and have identified an association between GPR10 polymorphisms and diastolic and systolic blood pressure. The alteration in signaling properties of the receptor produced by P305L may provide a functional basis for this association.	Cohort 1,084 UK Caucasian 										
124178	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		10	10q26.13	GPR10	120342905	120345150		Franks, P. W.  et al. 2004	14691196				G protein-coupled receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC095539			CDC GDPinfo	2834	Hs.248119			Hypertension. 2004 Feb;43(2):224-8	Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10		600895	16979	2	2004	Knowledge of GPR10 genotype may define those who are least likely to benefit from physical activity. These findings may have relevance in the targeted treatment of hypertensive disease.	Cohort 687 individuals from the MRC Ely study 										
124180	Y	obesity	METABOLIC	MET	Obesity, Morbid	22	22q13.2	MCHR1	39405044	39408764		Bell, C. G.  et al. 2005	16186414				melanin-concentrating hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF490537			CDC GDPinfo	2847	Hs.248122			Diabetes. 2005 Oct;54(10):3049-55	Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity.		601751	10871	2	2005												
124174		hereditary nonspherocytic hemolytic anemia (HNSHA).	OTHER	OTH	Anemia, Hemolytic, Congenital Nonspherocytic	19	19q13.1	GPI	39547725	39583076		Beutler E et al. 1997	9446754				Glucose phosphate isomerase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000175.2			KGB	2821	Hs.466471			Blood cells, molecules & diseases. 1997 Dec;23(3):402-9	Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).		172400	2916	1	1997												
124175	Y	blood pressure	CARDIOVASCULAR	CARD		10	10q26.13	GPR10	120342905	120345150		Franks PW 2004	14691196	G-62A and C914T			G protein-coupled receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC095539			KGB	2834	Hs.248119	physical activity		Hypertension. 2004 Feb;43(2):224-8	Association between physical activity and blood pressure is modified by variants in the G-protein coupled receptor 10.		600895	2919	1	2004	Knowledge of GPR10 genotype may define those who are least likely to benefit from physical activity. These findings may have relevance in the targeted treatment of hypertensive disease.	Cohort 687 individuals from the MRC Ely study										
124176	Y	blood pressure	METABOLIC	MET	Obesity	10	10q26.13	PRLHR	120342905	120345150		Bhattacharyya S et al. 2003	12716769				prolactin releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004248.2	Caucasian	Great Britain	KGB	2834	Hs.248119			Diabetes. 2003 May;52(5):1296-9	Association of polymorphisms in GPR10 the gene encoding the prolactin-releasing peptide receptor with blood pressure but not obesity in a U.K. Caucasian population.			2920	1	2003												
124170	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome	3	3q21	GP9	130262334	130263939		Noris P et al. 1997	9163595				Glycoprotein IX (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000174.2			KGB	2815	Hs.1144	low platelets		British journal of haematology. 1997 May;97(2):312-20	A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.		173515	2914	1	1997												
124171	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Hemorrhagic Disorders	3	3q21	GP9	130262334	130263939		Suzuki K et al. 1997	9432024				Glycoprotein IX (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000174.2			KGB	2815	Hs.1144	low platelets		British journal of haematology. 1997 Dec;99(4):794-800	Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.		173515	2915	1	1997												
124172		thrombocytopenia	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders|Thrombocytopenia|von Willebrand Disease	3	3q21	GP9	130262334	130263939		Noris, P.  et al. 2004	15477207				Glycoprotein IX (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000174.2			CDC GDPinfo	2815	Hs.1144			Haematologica. 2004 Oct;89(10):1219-25	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.		173515	26030	2	2004	 The diagnostic algorithm correctly diagnosed 26 of 28 patients with known disorders or phenotypic variants of known disorders. By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia.	Cohort 46 consecutive thrombocytopenia patients observed furing the last 5 years at a single institution 										
124166		thrombocytopenia	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders|Thrombocytopenia|von Willebrand Disease	3	3q29	GP5	195596838	195601284		Noris, P.  et al. 2004	15477207				Glycoprotein V (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004488.1			CDC GDPinfo	2814	Hs.73734			Haematologica. 2004 Oct;89(10):1219-25	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.		173511	24483	2	2004	 The diagnostic algorithm correctly diagnosed 26 of 28 patients with known disorders or phenotypic variants of known disorders. By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia.	Cohort 46 consecutive thrombocytopenia patients observed furing the last 5 years at a single institution 										
124167	Y	myocardial infarct; thrombosis, deep vein	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Coronary Thrombosis|Myocardial Infarction|Genetic Predisposition to Disease	19	19q13.4	GP6	60216886	60241444		Ollikainen, E.  et al. 2004	15306180				Glycoprotein VI (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016363.3			CDC GDPinfo	51206	Hs.631589			Atherosclerosis. 2004 Sep;176(1):95-9	Platelet membrane collagen receptor glycoprotein VI polymorphism is associated with coronary thrombosis and fatal myocardial infarction in middle-aged men.		605546	10868	2	2004	Our findings support previous results on the role of this GPVI polymorphism, or another linked polymorphism, as a possible predictor of the risk of coronary thrombosis.	Cohort 300 men of the helsinki Sudden Death Study 										
124168		myocardial infarct; brain infarction	CARDIOVASCULAR	CARD		19	19q13.4	GP6	60216886	60241444		Yu, Z. Q.  et al. 2005	15946524	T13254C			Glycoprotein VI (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016363.3	Chinese		CDC GDPinfo	51206	Hs.631589			Zhonghua xue ye xue za zhi. 2005 Mar;26(3):140-3	[Study on T13254C polymorphism of the platelet membrane glycoprotein VI in Chinese Han population]		605546	10869	2	2005	 The GPVI T13254C polymorphism appears in a low frequency in Chinese Han population. No relationship is found between T13254C polymorphism and the risk for thrombotic diseases.											
124163	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome	22	22q11.21-q11.23	GP1BB	18088290	18092297		Kunishima S et al. 2000	10928480				Glycoprotein Ib (platelet), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L20860			KGB	2812	Hs.517410	low platelets		Thrombosis and haemostasis. 2000 Jul;84(1):112-7	Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.		138720	2913	1	2000	the mutation is responsible for a BSS phenotype observed in the patient.											
124164		thrombocytopenia	HEMATOLOGICAL	HEM		22	22q11.21-q11.23	GP1BB	18088290	18092297		Kunishima, S.  et al. 2003	12648286				Glycoprotein Ib (platelet), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L20860			CDC GDPinfo	2812	Hs.517410			European journal of immunogenetics. 2003 Apr;30(2):159-61	Expression of low-frequency Ala108Pro substitution in the platelet glycoprotein Ibbeta gene.		138720	16977	2	2003	The Pro108 allele was not found in either cohort.	Cohort 208/200 208 healthy Japanese and 200 healthy Caucasians 										
124165		thrombocytopenia	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders|Thrombocytopenia|von Willebrand Disease	22	22q11.21-q11.23	GP1BB	18088290	18092297		Noris, P.  et al. 2004	15477207				Glycoprotein Ib (platelet), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L20860			CDC GDPinfo	2812	Hs.517410			Haematologica. 2004 Oct;89(10):1219-25	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.		138720	21540	2	2004	 The diagnostic algorithm correctly diagnosed 26 of 28 patients with known disorders or phenotypic variants of known disorders. By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia.	Cohort 46 consecutive thrombocytopenia patients observed furing the last 5 years at a single institution 										
124160	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	17	17pter-p12	GP1BA	4776371	4779067		Welsby, I. J.  et al. 2005	15892865				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		606672	26029	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
124161		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Adams, G. T.  et al. 2003	12871600				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		606672	28145	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
124162		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	17	17pter-p12	GP1BA	4776371	4779067		Navarro-Lopez, F.   2002	11975906				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		606672	28409	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
124157		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	17	17pter-p12	GP1BA	4776371	4779067		Carlsson, L. E.  et al. 2003	12724616				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		606672	24480	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
124158		lymphoproliferative disorders	OTHER	OTH	Coronary Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera|Genetic Predisposition to Disease|Hemorrhage	17	17pter-p12	GP1BA	4776371	4779067		Afshar-Kharghan, V.  et al. 2004	15166939				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Blood coagulation & fibrinolysis. 2004 Jan;15(1):21-4	Hemostatic gene polymorphisms and the prevalence of thrombotic complications in polycythemia vera and essential thrombocythemia		606672	24481	2	2004	In view of previous studies linking the presence of the Pl allele of GPIIIa to a higher risk for coronary artery thrombosis, our data have physiologic relevance. However, they need to be confirmed in a larger study.	Cohort 86 patients with polycythemia vera (43 patients) or essential thrombocythemia (43 patients) 										
124159	Y	angina	CARDIOVASCULAR	CARD	Angina, Unstable	17	17pter-p12	GP1BA	4776371	4779067		Yongbin, N.  et al. 2004	15346842				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Chinese		CDC GDPinfo	2811	Hs.1472			Clinical cardiology. 2004 Aug;27(8):455-8	Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients		606672	24482	2	2004	 Chinese patients with UA had increased frequencies of GP Ib alpha C/B genotype and Bbeta fibrinogen 448A allele. These data suggest that some genetic factors may influence the development of UA.	Case:69 Chinese patients (43 men, 26 women) with unstable:angina;Control:69 control subjects without coronary artery disease										
124154		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Ishii, K.  et al. 2004	14968555				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Japanese		CDC GDPinfo	2811	Hs.1472			Rinsho byori The Japanese journal of clinical pathology. 2004 Jan;52(1):22-7	[Genetic risk factors for ischemic cerebrovascular disease--analysis on fifteen candidate prothrombotic gene polymorphisms in the Japanese population]		606672	21537	2	2004	Carrying both of the two mutations might be associated with developing CVD at a younger age.	Case:200 genetically unrelated Japanese patients with ischemic CVD;Control:281 age- and gender-matched control subjects										
124155		heart disease, ischemic; peripheral arterial disease	CARDIOVASCULAR	CARD		17	17pter-p12	GP1BA	4776371	4779067		Hancer, V. S.  et al. 2005	15386532				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Turkish		CDC GDPinfo	2811	Hs.1472			Cell biochemistry and function. 2005 Jan-Feb;23(1):55-8	Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci.		606672	21538	2	2005												
124156		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	17	17pter-p12	GP1BA	4776371	4779067		Shields, D. C.  et al. 2002	12082590				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		606672	21539	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
124151	Y	myocardial infarction; sudden cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Coronary Disease|Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067		Mikkelsson, J.  et al. 2001	11514372				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3		Finland	CDC GDPinfo	2811	Hs.1472			Circulation. 2001 Aug;104(8):876-80	Platelet glycoprotein Ibalpha HPA-2 Met/VNTR B haplotype as a genetic predictor of myocardial infarction and sudden cardiac death.		606672	16976	2	2001	 Our results suggest that the HPA-2 Met/VNTR B haplotype of the platelet von Willebrand factor and thrombin receptor protein GP Ib-V-IX may be considered to be a major risk factor of coronary thrombosis, fatal MI, and SCD in early middle age.	Control:367 subjects that died of noncardiac causes;Case:65 men with coronary thrombosis from a group of 700 middle-aged white Finnish men who suffered sudden or violent out-of-hospital death.;Case:80 men with acute miocardial infarction from a group of 700 middle-aged white Finnish men who suffered sudden or violent out-of-hospital death.:Finland 1981 to 1982 and 1991 to 1992										
124152		lymphoproliferative disorders; blood transfusion complications	OTHER	OTH		17	17pter-p12	GP1BA	4776371	4779067		Jones, D. C.  et al. 2003	14675395				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			European journal of immunogenetics. 2003 Dec;30(6):415-9	Human platelet alloantigens (HPAs): PCR-SSPgenotyping of a UK population for 15 HPA alleles.		606672	17875	2	2003	This comprehensive HPA genotyping assay allows rapid, accurate and reproducible results at low cost.	Cohort 134 renal donors UK 										
124153		thrombocytopenia	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders|Thrombocytopenia|von Willebrand Disease	17	17pter-p12	GP1BA	4776371	4779067		Noris, P.  et al. 2004	15477207				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Haematologica. 2004 Oct;89(10):1219-25	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.		606672	18485	2	2004	 The diagnostic algorithm correctly diagnosed 26 of 28 patients with known disorders or phenotypic variants of known disorders. By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia.	Cohort 46 consecutive thrombocytopenia patients observed furing the last 5 years at a single institution 										
124148	N	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17pter-p12	GP1BA	4776371	4779067		Chen, C. H.  et al. 2004	15546585	C807T			Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Taiwanese	Taiwan	CDC GDPinfo	2811	Hs.1472			Journal of the neurological sciences. 2004 Dec;227(1):5-Jan	Platelet glycoprotein Ia C807T, Ib C3550T, and IIIa Pl(A1/A2) polymorphisms and ischemic stroke in young Taiwanese.		606672	11997	2	2004	In conclusion, platelet GP Ia C807T and GP Ib C3550T polymorphisms in our population are less common compared with Caucasians, and GP IIIa Pl(A1/A2) genetic mutation is not found, and all of them are not associated with ischemic stroke in young Taiwanese.	Case:157 Taiwanese young ischemic stroke patients:Sep, 2001 - Mar, 2003;Control:157 age- and sexmatched controls										
124149		heart disease, ischemic; myocardial infarction; sudden cardiac death	CARDIOVASCULAR	CARD		17	17pter-p12	GP1BA	4776371	4779067		DI Paola, J.  et al. 2005	15978109				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Journal of thrombosis and haemostasis. 2005 Jul;3(7):1511-21	Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkagedisequilibrium in a population diversity panel.		606672	12001	2	2005												
124150		heart disease, ischemic	CARDIOVASCULAR	CARD	Heart Diseases|Myocardial Ischemia|Intraoperative Complications	17	17pter-p12	GP1BA	4776371	4779067		Faraday, N.  et al. 2004	15564935				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Anesthesiology. 2004 Dec;101(6):1291-7	Platelet gene polymorphisms and cardiac risk assessment in vascular surgical patients.		606672	12050	2	2004	 Platelet polymorphisms are independent risk factors for postoperative myocardial ischemia and improve a risk prediction model when added to historic and surgical risk factors.	Cohort 190 patients who underwent infrainguinal, abdominal aortic, or thoracoabdominal vascular surgery 										
124145		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067		Rosenberg, N.  et al. 2002	12073410				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			The Israel Medical Association journal. 2002 Jun;4(6):411-4	Effects of platelet membrane glycoprotein polymorphisms on the risk of myocardial infarction in young males.		606672	11985	2	2002	 The platelet glycoproteins polymorphisms studied are not an independent risk factor for AMI.	Case:100 young males with first AMI before the age of 53;Control:119 healthy controls of similar age										
124146		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Iniesta, J. A.  et al. 2003	12499711				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3		Spain	CDC GDPinfo	2811	Hs.1472			Cerebrovascular diseases (Basel, Switzerland). 2003 ;15(2-Jan):51-5	Polymorphisms of platelet adhesive receptors: dothey play a role in primary intracerebral hemorrhage?		606672	11988	2	2003	 Our results suggest that these polymorphisms play a minor role in PIH.	Case:141 Caucasian patients diagnosed of primary intracerebral hemorrhage;Control:141/446 race-, age-, sex- and risk factor-matched controls (n=141) and general population controls (n=446)										
124147		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Anemia, Sickle Cell	17	17pter-p12	GP1BA	4776371	4779067		Castro, V.  et al. 2004	15355504				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Vox sanguinis. 2004 Aug;87(2):118-23	Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia.		606672	11996	2	2004	 The findings of this study suggest that the HPA-5b allele is a genetic risk factor for the development of OVC in patients with SCA. This allele could be explored as a target for the development of new therapeutic approaches.	Cohort 97 patients with sickle cell anemia 										
124142	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067		Ozelo, M. C.  et al. 2004	15269835				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Thrombosis and haemostasis. 2004 Aug;92(2):384-6	Platelet glycoprotein Ibalpha polymorphisms modulate the risk for myocardial infarction.		606672	10865	2	2004	Determination of VNTR of the GPIba gene may prove useful for identifying high-risk individuals for MI.	Case:180 survivors of myocardial infarction;Control:180 controls matched by age, gender, and race										
124143		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Gao, X. G.  et al. 2005	16118501				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Chinese	China	CDC GDPinfo	2811	Hs.1472			European neurology. 2005 ;54(2):73-7	Gene polymorphism of platelet glycoprotein I balpha in Chinese patients with large- and small-artery subtypes of ischemic stroke.		606672	10867	2	2005												
124144		thrombus formation, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Cadroy, Y.  et al. 2001	11698306				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Blood. 2001 Nov;98(10):3159-61	Role of 4 platelet membrane glycoprotein polymorphisms on experimental arterial thrombus formation in men		606672	11981	2	2001	platelet thrombus formation is significantly influenced by genetic variations of the GPIbalpha and GPIa receptors. The effect of these polymorphisms was dependent on the blood flow rate.	Cohort 40 healthy male volunteers randomly recruited 										
124139	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	17	17pter-p12	GP1BA	4776371	4779067		Baker, R. I.  et al. 2001	11418460				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Blood. 2001 Jul;98(1):36-40	Platelet glycoprotein Ibalpha Kozak polymorphism is associated with an increased risk of ischemic stroke.		606672	10861	2	2001	It was concluded that the Kozak T/C polymorphism, which is associated with an increase in platelet GP Ibalpha surface expression, is an independent risk factor for first-ever ischemic stroke.	Control:205 community controls randomly selected from the electoral roll and stratified by age, sex, and postal code;Case:219 cases of first-ever ischemic stroke										
124140		myocardial infarction	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067		Douglas, H.  et al. 2002	11751671	( -5T/C   Kozak sequence)			Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Heart (British Cardiac Society). 2002 Jan;87(1):70-4	Platelet membrane glycoprotein Ibalpha gene -5T/C Kozak sequence polymorphism as an independent risk factor for the occurrence of coronary thrombosis.		606672	10862	2	2002	 The homozygous TT Kozak genotype may be a significant factor in the outcome of coronary artery disease completed by myocardial infarction. Conversely, the Kozak C allele in the heterozygous state TC may confer some protection against myocardial infarction.	Control:168 individuals with no evidence of myocardial infarction (101 men and 67 women);Case:88 patients with confirmed previous myocardial infarction evident on ECG or ventriculogram (79 men and 9 women)										
124141	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Disease|Acute Disease	17	17pter-p12	GP1BA	4776371	4779067		Kenny, D.  et al. 2002	11994555				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			Journal of thrombosis and thrombolysis. 2002 Feb;13(1):13-9	Platelet glycoprotein Ib alpha receptor polymorphisms and recurrent ischaemic events in acute coronary syndrome patients.		606672	10863	2	2002	 In an unstable coronary syndrome population the T-5C polymorphism in GPIb(alpha) influences risk of subsequent MI.	Cohort 1014 patients presenting with unstable coronary syndromerecruited from the OPUS-TIMI 16 clinical trial 	orbofiban									
124136	Y	hyperactive surface receptor	OTHER	OTH	von Willebrand Disease	17	17pter-p12	GP1BA	4776371	4779067		Russell SD et al. 1993	8384898				glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472			Blood. 1993 Apr;81(7):1787-91	Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.		606672	2912	1	1993	The described mutation is associated with the pseudo-von Willebrand disease phenotype seen in this kindred. The resultant single amino acid substitution in glycoprotein Ib alpha relates to increased receptor function and to excessive binding of von Willebrand factor to the platelet surface.											
124137	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17pter-p12	GP1BA	4776371	4779067		Ishida, F.  et al. 2000	11167769				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3		Japan|Korea	CDC GDPinfo	2811	Hs.1472			British journal of haematology. 2000 Dec;111(4):1247-9	Genetic linkage of Kozak sequence polymorphism of the platelet glycoprotein Ib alpha with human platelet antigen-2 and variable number of tandem repeats polymorphism, and its relationship with coronary artery disease.		606672	10859	2	2000	No association was observed between these alleles and coronary artery disease in this case-control study. The clinical relevance of this polymorphism in the thrombotic status remains undetermined.	Case patients with coronary artery disease;Control:controls										
124138		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension	17	17pter-p12	GP1BA	4776371	4779067		Meiklejohn, D. J.  et al. 2001	11260063				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDPinfo	2811	Hs.1472			British journal of haematology. 2001 Mar;112(3):621-31	In vivo platelet activation in atherothrombotic stroke is not determined by polymorphisms of human platelet glycoprotein IIIa or Ib		606672	10860	2	2001	These data suggest an underlying prothrombotic state, but do not support the polymorphisms studied as risk factors for thrombotic stroke in this population.	Control matched controls;Case:150 patients with atherothrombotic stroke										
124133		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Ayala F 2003	12908817	VNTR			Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3		Spain	KGB	2811	Hs.1472			Breast cancer research and treatment. 2003 Jul;80(2):145-54	Genetic polymorphisms of platelet adhesive molecules: association with breast cancer risk and clinical presentation.		606672	2909	1	2003	Although confirmatory studies are needed, our results suggest that polymorphic genetic variation of integrins expressed in platelets and epithelial breast cells could modify the risk and the biological aggressiveness of breast carcinomas.											
124134	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Ishii K 2004	14968555	145Met			Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Japanese		KGB	2811	Hs.1472			Rinsho byori The Japanese journal of clinical pathology. 2004 Jan;52(1):22-7	Genetic risk factors for ischemic cerebrovascular disease--analysis on fifteen candidate prothrombotic gene polymorphisms in the Japanese population		606672	2910	1	2004	Carrying both of the two mutations might be associated with developing CVD at a younger age.	Case:200 genetically unrelated Japanese patients with ischemic CVD;Control:281 age- and gender-matched control subjects										
124135	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome	17	17pter-p12	GP1BA	4776371	4779067		Simsek S et al. 1994	7819107	Cys209 Ser			glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472	low platelets		British journal of haematology. 1994 Dec;88(4):839-44	Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.		606672	2911	1	1994	The mutation identified in the family studied, responsible for the deficiency of the GP Ib/IX/V complex, suggests that the cysteine at amino acid position 209 may be involved in disulphide bonding.											
124129	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067	n	Croft SA et al. 2000	10755818				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472			Blood. 2000 Mar;95(6):2183-4	Kozak sequence polymorphism in the platelet GPIbalpha gene is not associated with risk of myocardial infarction.		606672	2905	1	2000												
124130	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome	17	17pter-p12	GP1BA	4776371	4779067		Gonzalez-Manchon C et al. 2001	11776304				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472	low platelets		Thrombosis and haemostasis. 2001 Dec;86(6):1385-91	Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.		606672	2906	1	2001												
124132	Y	Resistance in vitro to low-dose aspirin	OTHER	OTH		17	17pter-p12	GP1BA	4776371	4779067		Macchi L 2003	13678940				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472			Journal of the American College of Cardiology. 2003 Sep;42(6):1115-9	Resistance in vitro to low-dose aspirin is associated with platelet PlA1 (GP IIIa) polymorphism but not with C807T(GP Ia/IIa) and C-5T Kozak (GP Ibalpha) polymorphisms.		606672	2908	1	2003	 Platelets homozygous for the Pl(A1) allele appear to be less sensitive to inhibitory action of low-dose aspirin. This differential sensitivity to aspirin may have potential clinical implications whereby specific antiplatelet therapy may be best tailored according to the patient's Pl(A) genotype.		aspirin									
124126		hypogonadism	METABOLIC	MET	Hypogonadism	4	4q21.2	GNRHR	68285693	68304399		Bhagavath, B.  et al. 2005	16213849				Gonadotropin-releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000406.2			CDC GDPinfo	2798	Hs.407587			Fertility and sterility. 2005 Oct;84(4):951-7	The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.		138850	16975	2	2005												
124127	N	puberty onset	UNKNOWN	UNK		4	4q21.2	GNRHR	68285693	68304399		Sedlmeyer, I. L.  et al. 2004	15546906				Gonadotropin-releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000406.2			CDC GDPinfo	2798	Hs.407587			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1091-9	Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation ofrole in pubertal timing.		138850	21536	2	2004	We conclude that  genetic variation in GNRH1 and GNRHR is not likely to be a substantial modulator of pubertal timing in the general population.	Control:216 women from the MEC who had early (menarche <11 yr of age) pubertal development;Case:290 women from the MEC who had late (menarche >/=15 yr of age) pubertal development										
124128	Y	Bernard-Soulier Syndrome	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders	17	17pter-p12	GP1BA	4776371	4779067		Ware J et al. 1990	2308962				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472	low platelets		Proceedings of the National Academy of Sciences of the United States of America. 1990 Mar;87(5):2026-30	Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.		606672	2904	1	1990	The molecular abnormality demonstrated in this family provides evidence that defective synthesis of GP Ib alpha alters the membrane expression of the GP Ib-IX complex and may be responsible for Bernard-Soulier syndrome.											
124123	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8p21-p11.2	GNRH1	25332692	25337836		Iwasaki, H.  et al. 2003	12633791				Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000825.2			CDC GDPinfo	2796	Hs.82963			Bone. 2003 Feb;32(2):185-90	Association of a Trp16Ser variation in the gonadotropin releasing hormone signal peptide with bone mineral density, revealed by SNP-dependent PCR typing.		152760	16973	2	2003	The results suggested that variation of the GnRH signal peptide may be an important risk factor for postmenopausal osteoporosis.	Cohort 384 postmenopausal Japanese women 										
124124	N	puberty onset	UNKNOWN	UNK		8	8p21-p11.2	GNRH1	25332692	25337836		Sedlmeyer, I. L.  et al. 2004	15546906				Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000825.2			CDC GDPinfo	2796	Hs.82963			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1091-9	Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation ofrole in pubertal timing.		152760	16974	2	2004	We conclude that  genetic variation in GNRH1 and GNRHR is not likely to be a substantial modulator of pubertal timing in the general population.	Control:216 women from the MEC who had early (menarche <11 yr of age) pubertal development;Case:290 women from the MEC who had late (menarche >/=15 yr of age) pubertal development										
124125	Y	periodontitis	IMMUNE	IMM	Periodontitis	8	8p21-p11.2	GNRH1	25332692	25337836		Suzuki, A.  et al. 2004	15490304				Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000825.2		Japan	CDC GDPinfo	2796	Hs.82963			Odontology. 2004 Sep;92(1):43-7	Large-scale investigation of genomic markers for severe periodontitis.		152760	26028	2	2004	These results suggest that SNPs in the GNRH1, PIK3R1, DPP4, FGL2, and CALCR genes are genomic markers for severe periodontitis. Our findings indicate the necessity of analyzing SNPs in genes on a large scale (i.e., genome-wide approach), to identify genomic markers for periodontitis.	Control:19 healthy volunteers;Case:22 Japanese patients with severe periodontitis										
124120		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	12	12p13	GNB3	6819378	6826818		Zee, R. Y.  et al. 2002	12082592				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		139130	28544	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
124121	N	retinitis pigmentosa	UNKNOWN	UNK		7	7q21.3	GNGT1	93058820	93378421		Zhang, Q. J.  et al. 2002	15901556				Guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021955.3			CDC GDPinfo	2792	Hs.642688			Yi chuan. 2002 Jan;24(1):19-21	[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]		189970	19264	2	2002	We found no evidence that mutation in GUCA1B,GNGT1,or RGS9 gene is a cause of retinitis pigmentosa.	Cohort 120 probands with retinitis pigmentosa 										
124122	Y	homocyteine	METABOLIC	MET	Folic Acid Deficiency	6	6p12	GNMT	43036477	43039596			16317120				Glycine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018960.4			CDC GDPinfo	27232	Hs.144914			The Journal of nutrition. 2005 Dec;135(12):2780-5	The Glycine N-Methyltransferase (GNMT) 1289 C->T Variant Influences Plasma Total Homocysteine Concentrations in Young Women after Restricting Folate Intake		606628	16972	2	2005			folate									
124117		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Warpeha, K. M.  et al. 2003	12724690				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		139130	27720	2	2003	Review article											
124118		atherosclerosis, coronary	CARDIOVASCULAR	CARD		12	12p13	GNB3	6819378	6826818		Ortlepp, J. R.  et al. 2002	12446192				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		139130	28048	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
124119		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	12	12p13	GNB3	6819378	6826818		Matayoshi, T.  et al. 2004	15824464				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		139130	28285	2	2004			thiazide diuretics									
124114		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Pollex, R. L.  et al. 2005	16276364				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Canadian		CDC GDPinfo	2784	Hs.631657			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		139130	26027	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
124115		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818			16314886				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			The pharmacogenomics journal. 2006 Jan-Feb;6(1):22-6	Interactions between five candidate genes and antihypertensive drug therapy on blood pressure		139130	26881	2	2005			antihypertensive									
124116		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	12	12p13	GNB3	6819378	6826818		Tiago, A. D.  et al. 2001	11447495				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	South African	South Africa	CDC GDPinfo	2784	Hs.631657			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		139130	26882	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
124111	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Pamies-Andreu, E.  et al. 2003	12624609				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Journal of human hypertension. 2003 Mar;17(3):187-91	Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.		139130	24479	2	2003	Although there is no association between salt sensitivity and the different studied genotypes of the RAAS and of the GNB3, our data show a greater risk for salt sensitivity among carriers of the W allele of the CYP11B2 1C polymorphism.	Cohort 102 essential hypertensive patients 										
124112		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Menzel, H. J.  et al. 2004	15138483				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		139130	26025	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria										
124113		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	12	12p13	GNB3	6819378	6826818		Lerer, B.  et al. 2002	12366879				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		139130	26026	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
124108	N	hypertension; obesity	CARDIOVASCULAR	CARD	Hypertension|Obesity|Weight Loss	12	12p13	GNB3	6819378	6826818		Potoczna, N.  et al. 2004	15531240				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Journal of gastrointestinal surgery. 2004 Nov;8(7):862-8; discussion 868	G protein polymorphisms do not predict weight loss and improvement of hypertension in severely obese patients.		139130	21535	2	2004	Regardless of the mechanism(s) involved for these discordant findings, GNB3 C825T, G814A, and GNAS1 T393C polymorphisms do not seem to be reliable predictors of long-term weight loss.	Cohort 347 severely obese patients (mean+/-SEM age, 42+/-1 years; 245 women and 59 men; mean+/-SEM body mass index, 43.9+/-0.3 kg/m(2)) 										
124109		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Shioji, K.  et al. 2004	15055253				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	CDC GDPinfo	2784	Hs.631657			Hypertension research. 2004 Jan;27(1):31-7	Association between hypertension and the alpha-adducin, beta1-adrenoreceptor, and G-protein beta3 subunit genes in the Japanese population; the Suita study.		139130	24477	2	2004	The present results do not agree with those in previous reports. Almost all common variants may have only a modest effect on common diseases, and a single study even employing 1,880 subjects may lack the statistical power to detect a real association. Accordingly, it will be necessary to verify the association between these three genes and hypertension using a larger number of subjects from the Suita cohort or another population.	Cohort 867/1,013 a large cohort representing the general population in Japan (867 males, 1,013 females) 										
124110	Y	diabetes, type 2; hypertension	METABOLIC	MET	Hypertrophy, Left Ventricular|Hypertension|Diabetes Mellitus, Type 2	12	12p13	GNB3	6819378	6826818			15332573				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Ter Arkh. 2004 ;76(6):30-5	[Polymorphic markers of GNB3 (C825T), AGTR1 (A1166C) and ACE (A2350G and I/D) genes in patients with arterial hypertension combined with diabetes mellitus type 2]		139130	24478	2	2004	 Polymorphic markers of ACE and GNB3 candidate genes influence clinical diversity of pathological signs in DM2 patients through modification of AH and LVH severity and the level of proinflammatory cytokines.	Cohort 89 hypertensive patients with type 2 diabetes 										
124105		weight gain	METABOLIC	MET	Weight Gain|Schizophrenia	12	12p13	GNB3	6819378	6826818		Tsai, S. J.  et al. 2004	15179018				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Neuropsychobiology. 2004 ;50(1):37-40	Association study of adrenergic beta3 receptor (Trp64Arg) and G-protein beta3 subunit gene (C825T) polymorphisms and weight change during clozapine treatment.		139130	21532	2	2004	Further exploration of other genetic variants implicated in clozapine-induced BWC is important, however, in order to predict and reduce clozapine-associated weight gain.	Cohort 87 treatment-resistant schizophrenic patients 										
124106		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Izawa, H.  et al. 2003	12654703				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese		CDC GDPinfo	2784	Hs.631657			Hypertension. 2003 May;41(5):1035-40	Prediction of genetic risk for hypertension.		139130	21533	2	2003	These results suggest that 2 and 1 genes may be susceptibility loci for hypertension in Japanese men and women, respectively, and that genotyping of these polymorphisms may prove informative for prediction of the genetic risk for hypertension.	Case:1067 unrelated Japanese subjects with hypertension;Control:873:controls										
124107	N	bipolar disorder; major depressive disorder	PSYCH	PSY	Mood Disorders	12	12p13	GNB3	6819378	6826818		Serretti, A.  et al. 2002	11992559				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3variants.		139130	21534	2	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months 	lithium									
124102		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	12	12p13	GNB3	6819378	6826818		Eisenhardt, A.  et al. 2003	12825146				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Herz. 2003 Jun;28(4):304-13	Genetic risk factors for erectile dysfunction and genetic determinants of drug response--on the way to improve drug safety?		139130	21529	2	2003	Considering cardiovascular side effects under sildenafil treatment, it would be interesting to determine if genetic factors have an impact on the side effect profile of this drug.	Cohort erectile dysfunction patients 	sildenafil									
124103	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension	12	12p13	GNB3	6819378	6826818		Morrison, A. C.  et al. 2001	11283377				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		United States	CDC GDPinfo	2784	Hs.631657			Stroke; a journal of cerebral circulation. 2001 Apr;32(4):822-9	G-protein beta3 subunit and alpha-adducin polymorphisms and risk of subclinical and clinical stroke.		139130	21530	2	2001	 The GNbeta3 gene 825C/T polymorphism is significantly associated with incident clinical ischemic stroke in a white middle-aged American population, but not in blacks. This association does not appear to be mediated by established stroke risk factors, specifically blood pressure levels or hypertension status.	Case:202 subclinical cerebral infarct cases from the Atherosclerosis Risk in Communities (ARIC) Study;Control:211 individuals rom a stratified random sample (MRI-CRS) participating in the MRI examination										
124104		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Arterial Occlusive Diseases|Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Morrison, A. C.  et al. 2002	12052841				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Hypertension. 2002 Jun;39(6):1053-7	ADD1 460W allele associated with cardiovascular disease in hypertensive individuals.		139130	21531	2	2002	An interaction with hypertension in the association between the ADD1 G460W polymorphism and cardiovascular disease merits further testing in additional populations.	Case:144 peripheral arterial disease cases;Case:408 incident coronary heart disease cases;Control:684 stratified random individuals of the ARIC cohort;Control:703 stratified random individuals of the ARIC cohort										
124099		depression	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	12	12p13	GNB3	6819378	6826818		Joyce, P. R.  et al. 2003	14604448				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			The international journal of neuropsychopharmacology. 2003 Dec;6(4):339-46	Age-dependent antidepressant pharmacogenomics:polymorphisms of the serotonin transporter and G protein beta3 subunit as predictors of response to fluoxetine and nortriptyline.		139130	16970	2	2003	These differential pharmacogenetic predictors of antidepressant response by age, may provide clues to understanding the discontinuities in pharmacological responsiveness of child/adolescent and adult depressive disorders.	Cohort 169 depressed patients randomized to treatment with either fluoxetine or nortriptyline 	fluoxetine nortriptyline									
124100	Y	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Arteriosclerosis	12	12p13	GNB3	6819378	6826818		Yamamoto, M.  et al. 2004	15033462				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	CDC GDPinfo	2784	Hs.631657			Biochemical and biophysical research communications. 2004 Apr;316(3):744-8	Association of GNB3 gene with pulse pressure and clustering of risk factors for cardiovascular disease in Japanese		139130	16971	2	2004	Although the effect of the gene on each phenotype appears to be weak, considering the combined impact of the effects of the C825T polymorphism on risk factors, the GNB3 gene may be an important gene for human health.	Cohort a large Japanese population 										
124101	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	12	12p13	GNB3	6819378	6826818		Obineche, E. N.  et al. 2001	11768721				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		United Arab Emirates	CDC GDPinfo	2784	Hs.631657			Hypertension research. 2001 Nov;24(6):635-9	An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.		139130	21528	2	2001	In conclusion, our results suggest an association between LVH and the C825T allele of the G-protein beta3 subunit gene.	Control:115 age- and sex-matched controls (23 hypertensives and 92 normotensives) who did not present with LVH, from United Arab Emirati population;Case:98 subjects with LVH (78 hypertensives and 20 normotensives) from United Arab Emirati population										
124096		myocardial infarct	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Hypertrophy, Left Ventricular|Myocardial Infarction|Hypertension	12	12p13	GNB3	6819378	6826818		Klintschar, M.  et al. 2005	16139102				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Forensic science international. 2005 Oct;153(3-Feb):142-6	DNA polymorphisms in the tyrosin hydroxylase and GNB3 genes: association with unexpected death fromacute myocardial infarction and increased heart weight.		139130	14237	2	2005												
124097		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	12	12p13	GNB3	6819378	6826818		Hong, C. J.  et al. 2005	16302021				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Chinese		CDC GDPinfo	2784	Hs.631657			The pharmacogenomics journal. 2006 Jan-Feb;6(1):27-33	Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder.		139130	14498	2	2005			fluoxetine									
124098	N	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	12	12p13	GNB3	6819378	6826818		Shliakhto, E. V.  et al. 2003	12891286				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Kardiologiia. 2003 ;43(1):44-6	[Association of a polymorphic marker C825T of the beta(3) subunit of G-protein with myocardial hypertrophy in patients with hypertensive disease]		139130	16969	2	2003	 No association exists between polymorphic marker C825T of the CNB3 gene and left ventricular hypertrophy in patients with essential hypertension.	Cohort 135 patients with hypertensive disease (essential hypertension) 										
124093	Y	vasoconstriction, coronary	CARDIOVASCULAR	CARD	Coronary Disease	12	12p13	GNB3	6819378	6826818		Naber, C. K.  et al. 2003	12724620	Glu298Asp			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Pharmacogenetics. 2003 May;13(5):279-84	Role of the eNOS Glu298Asp variant on the GNB3825T allele dependent determination of alpha-adrenergic coronary constriction.		139130	12802	2	2003	Contrary to the initial analysis, the Glu298Asp variant of the eNOS gene provides no additional information on the genetic basis of alpha(2)-adrenoceptor-induced coronary vasoconstriction, which appears exclusively associated to the 825T allele at GNB3. Analysis of modifying genes appears crucial for the understanding of genetic associations.	Cohort 48 individuals receiving either the alpha(1)-adrenoceptor agonist methoxamine (5 mg i.c.) and/or the alpha(2)-adrenoceptor agonist BHT 933 (5 mg i.c.) 	BHT 933 methoxamine									
124094		vascular response	CARDIOVASCULAR	CARD		12	12p13	GNB3	6819378	6826818		Mitchell, A.  et al. 2005	15961981				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Clinical pharmacology and therapeutics. 2005 Jun;77(6):495-502	Insulin-mediated venodilation is impaired in young, healthy carriers of the 825T allele of the G-protein beta3 subunit gene (GNB3).		139130	12880	2	2005	 This study is the first to show the influence of a genetic polymorphism on insulin-mediated venodilation in men in vivo. Further studies are needed to determine whether these results translate to other vascular beds, and possible gender-specific differences remain to be investigated.											
124095	N	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	12	12p13	GNB3	6819378	6826818		Meirhaeghe, A.  et al. 2005	15978856				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		France	CDC GDPinfo	2784	Hs.631657			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):293-9	Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.		139130	13770	2	2005												
124090	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		12	12p13	GNB3	6819378	6826818		Lee, J.  et al. 2005	16015130				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Korean		CDC GDPinfo	2784	Hs.631657			Medicine and science in sports and exercise. 2005 Jul;37(7):1138-43	Association between the GNB3 polymorphism and blood pressure in young Korean men.		139130	10858	2	2005	 The current findings of the study suggest that increased body fatness along with low cardiorespiratory fitness may magnify the genetic susceptibility of the GNB3 825T allele to elevated blood pressure in this study population.		obesity									
124091	N	acetylcholine responsiveness	UNKNOWN	UNK		12	12p13	GNB3	6819378	6826818		Grossmann, M.  et al. 2001	11434508				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Pharmacogenetics. 2001 Jun;11(4):307-16	Heterogeneity in hand veins responses to acetylcholine is not associated with polymorphisms in the G-protein beta3-subunit (C825T) and endothelial nitric oxide synthase (G894T) genes but with serum low density lipoprotein cholesterol.		139130	12735	2	2001	We did not find any association of the variability in ACh response with GNB3 or eNOS allele status. On the other hand, a significant positive correlation between ACh responsiveness and low density lipoprotein-cholesterol status was detected. Two recently discovered gene polymorphisms are not responsible for the profound heterogeneity in venodilator response to ACh. Surprisingly, this variability appears to relate to the lipid status of the subjects. The exact nature of this new finding requires further study.	Cohort 37 healthy subjects 										
124092		kidney transplant complications	IMMUNE	IMM	Arteriosclerosis	12	12p13	GNB3	6819378	6826818		Viklicky, O.  et al. 2002	12424427				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Kidney & blood pressure research. 2002 ;25(4):245-9	G-protein beta-3-subunit and eNOS gene polymorphism in transplant recipients with long-term renal graft function.		139130	12781	2	2002	 Our data suggest that these gene polymorphisms have only a minor influence on long-term renal graft function.	Case patients with kidney grafts;Control transplant recipients										
124087	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	12	12p13	GNB3	6819378	6826818		Lee, H. J.  et al. 2003	14647404				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			The pharmacogenomics journal. 2004 ;4(1):29-33	Association between a G-protein beta 3 subunit gene polymorphism and the symptomatology and treatment responses of major depressive disorders.		139130	10854	2	2003	These results suggest that the T allele of the C825T polymorphism in the GNB3 gene is associated with MDD. It was also demonstrated that MDD patients bearing the T allele had a severe symptomatology and a better response to antidepressant treatment than patients without the T allele.	Case:106 major depressive disorder patients;Control:133 healthy controls										
124088	Y	body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system	METABOLIC	MET		12	12p13	GNB3	6819378	6826818		Matsunaga, T.  et al. 2005	15831363	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese		CDC GDPinfo	2784	Hs.631657			American journal of hypertension. 2005 Apr;18(4 Pt 1):523-9	Association of C825T polymorphism of G protein beta3 subunit with the autonomic nervous system in young healthy Japanese individuals.		139130	10856	2	2005	 These observations suggested that GNB3 C825T polymorphism is associated with ANS in youth. These findings raise the possibility that individuals who are T allele carriers are at increased risk for developing hypertension in relation to ANS function.	Cohort 94 young Japanese healthy men 										
124089	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Kiani, J. G.  et al. 2005	15855877	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		United Arab Emirates	CDC GDPinfo	2784	Hs.631657			Neuro endocrinology letters. 2005 Apr;26(2):87-8	Association of G-protein beta-3 subunit gene (GNB3) T825 allele with Type II diabetes.		139130	10857	2	2005												
124084	Y	insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders	METABOLIC	MET	Hypertension|Insulin Resistance|Obesity	12	12p13	GNB3	6819378	6826818		Brand, E.  et al. 2003	12658019	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Journal of hypertension. 2003 Apr;21(4):729-37	An epidemiological study of blood pressure and metabolic phenotypes in relation to the Gbeta3 C825T polymorphism.		139130	10851	2	2003	 Male and female carriers of the T allele at position 825 of the G-protein beta(3)-subunit gene have a slightly higher haematocrit and erythrocyte count. Male TT homozygotes have a higher blood pressure and are more obese and insulin-resistant than C allele carriers. We speculate that the higher blood pressure in TT homozygous men might arise via a metabolic pathway characterized by obesity and insulin resistance as well as via increased peripheral resistance secondary to the higher haematocrit.	Cohort 737/775 men (n=737) and women (n=775) enrolled in a Belgian population study Belgium 										
124085	Y	hypertension; insulin; obesity	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Obesity	12	12p13	GNB3	6819378	6826818		Chen, Y. Y.  et al. 2003	12930636	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Zhonghua yi xue za zhi. 2003 Jul;83(14):1229-32	[Association between G-protein beta(3) subunit (GNB(3)) gene C825T polymorphism, hypertension, insulin resistance and obesity]		139130	10852	2	2003	 CT and TT genotype of GNB(3) C825T was correlated with insulin sensitivity, blood pressure, and BMI. GNB(3) C825T gene enhances the hypertensive effect of insulin resistance.	Case:187 first generation offspring of hypertensives:Daqing, China;Control:189 first generation offspring of nonhypertensives										
124086		hypertension	CARDIOVASCULAR	CARD		12	12p13	GNB3	6819378	6826818		Wang, H.  et al. 2003	12947562	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Chinese		CDC GDPinfo	2784	Hs.631657			Beijing da xue xue bao Yi xue ban. 2003 Aug;35(4):423-5	[G protein beta 3 subunit C825T polymorphism and essential hypertension in Chinese]		139130	10853	2	2003	 In Chinese, patients with TT genotype had higher aldosterone level and lower angiotensin converting enzyme (ACE) activity.	Control:140/61 normotensives (n=140) and healthy persons with hypertensive family history (n=61);Case:408 Chinese essential hypertensive patients										
124081	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Schizophrenia	12	12p13	GNB3	6819378	6826818		Kunugi, H.  et al. 2002	12075862	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		Japan	CDC GDPinfo	2784	Hs.631657			J Neural Transm. 2002 Feb;109(2):213-8	Association study of C825T polymorphism of the G-protein b3 subunit gene with schizophrenia and mood disorders.		139130	10847	2	2002	We obtained no evidence for an association of the polymorphism with any diagnostic group.	Control:198:controls;Case:68 depressive patients										
124082	Y	body mass; hypertension; insulin sensitivity	METABOLIC	MET	Hypertension|Insulin Resistance|Obesity	12	12p13	GNB3	6819378	6826818		Poch, E.  et al. 2002	12109775				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Clinical and experimental hypertension (New York, NY :  1993). 2002 Jul;24(5):345-53	Association of the G protein beta3 subunit T allele with insulin resistance in essential hypertension.		139130	10848	2	2002	These results suggest a relationship between the 825T allele of GNB3 and insulin resistance in the essential hypertensive patients studied, which seems to be independent of BMI.	Cohort 130 urelated patients with essential hypertension 										
124083	Y	arterial wall changes	CARDIOVASCULAR	CARD	Vascular Diseases|Hypertrophy	12	12p13	GNB3	6819378	6826818		Hanon, O.  et al. 2002	12566975	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Journal of vascular research. 2002 Nov-Dec;39(6):497-503	Association between the G protein beta3 subunit 825t allele and radial artery hypertrophy.		139130	10849	2	2002	These results suggest that some genetic characteristics determine in part the patterns of radial artery geometrical changes. As the 825T allele is associated with vascular hypertrophy of a muscular artery but not with structural changes of an elastic artery, we hypothesize that the 825T allele may be a genetic marker of arteriolosclerosis.	Cohort 306 subjects (age 49 +/- 12 years) without evidence of cardiovascular disease and never treated with cardiovascular drugs 										
124078	N	mood disorder	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	12	12p13	GNB3	6819378	6826818		Lin, C. N.  et al. 2001	11586049	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Neuropsychobiology. 2001 ;44(3):118-21	Association Analysis of a Functional G Protein beta3 Subunit Gene Polymorphism (C825T) in Mood Disorders		139130	10844	2	2001	The results reveal that it is not likely that the C825T polymorphism in the GNB3 gene subunit is involved in mood disorder pathogenesis. Further studies of the associations between other G protein subunits and mood disorder are needed to fully elaborate the involvement of this protein in mood disorders.	Case:144 mood disorder patients;Control:153 nromal controls										
124079	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Gonzalez-Nunez, D.  et al. 2001	11816511	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Nefrologia. 2001 Jul-Aug;21(4):355-61	[Absence of an association between the C825T polymorphism of the G-protein beta 3 subunit and salt-sensitivity in essential arterial hypertension]		139130	10845	2	2001	These results indicate that the GNB3 C825T polymorphism has no major influence on the pressor response to salt in essential hypertension and therefore do not support its usefulness as an early genetic marker of salt sensitivity in this disease.	Cohort 46 patients with essential hypertension 	salt									
124080		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Dai, S. P.  et al. 2002	11985260	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Chinese		CDC GDPinfo	2784	Hs.631657			Yi chuan xue bao. 2002 Apr;29(4):294-8	[Polymorphism analysis of 825C/T of the G-protein beta 3 subunit in high risk population of hypertension in the northeast China]		139130	10846	2	2002	Although GNB3 is not a susceptible gene of hypertension in the northeast Chinese, it still has some effects on regulation of the blood pressure in susceptible women.	Control:110 healthy controls in general population;Case:133 patients with essential hypertension in high risk population of hypertension northeast China;Control:257 healthy control subjects;Case:98 patients with essential hypertension in general:population										
124075		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Schizophrenia	12	12p13	GNB3	6819378	6826818		Kunugi H et al. 2002	12075862				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		Japan	KGB	2784	Hs.631657			J Neural Transm. 2002 Feb;109(2):213-8	Association study of C825T polymorphism of the G-protein b3 subunit gene with schizophrenia and mood disorders.		139130	2902	1	2002	We obtained no evidence for an association of the polymorphism with any diagnostic group.	Control:198:controls;Case:68 depressive patients										
124076	Y	hypertension; myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	12	12p13	GNB3	6819378	6826818		Hengstenberg, C.  et al. 2001	11230982				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDPinfo	2784	Hs.631657			Cardiovascular research. 2001 Mar;49(4):820-7	Association between a polymorphism in the G protein beta3 subunit gene (GNB3) with arterial hypertension but not with myocardial infarction		139130	10842	2	2001	 In male individuals from a large population-based sample, the T allele of the GNB3 polymorphism was associated with arterial hypertension. However, the effects of the GNB3 825T allele on blood pressure were small and did not translate to a clinically relevant increase of risk for MI.	Control:2052 Individuals from a population-based sample;Case:606 patients suffering from premature MI										
124077	N	obesity; diabetes, unspecified	METABOLIC	MET	Diabetes Mellitus|Obesity|Diabetes Complications	12	12p13	GNB3	6819378	6826818		Ohshiro, Y.  et al. 2001	11520049	825C/T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	CDC GDPinfo	2784	Hs.631657			Biochemical and biophysical research communications. 2001 Aug;286(4):678-80	Analysis of 825C/T polymorphism of G proteinbeta3 subunit in obese/diabetic Japanese.		139130	10843	2	2001	We concluded that the 825-T allele is not associated with obesity or diabetes associated with obesity at least in the Japanese population.	Cohort 208 severly obese subjects, including 146 probands with diabetes Japan 										
124072		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p13	GNB3	6819378	6826818		Fernandez-Real JM 2003	12511541				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			Y Wang	2784	Hs.631657	Complications		Hypertension. 2003 Jan;41(1):124-9	G protein beta3 gene variant, vascular function, and insulin sensitivity in type 2 diabetes.		139130	2899	1	2003												
124073		unexplained (functional) dyspepsia.	OTHER	OTH	Abdominal Pain|Dyspepsia	12	12p13	GNB3	6819378	6826818		Holtmann G 2004	15057736	C825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657	Homozygous GNB3 825C carrier status is associated with unexplained predominantly upper abdominal symptoms		Gastroenterology. 2004 Apr;126(4):971-9	G-protein beta 3 subunit 825 CC genotype is associated with unexplained (functional) dyspepsia.		139130	2900	1	2004	 Homozygous GNB3 825C carrier status is associated with unexplained predominantly upper abdominal symptoms.											
124074		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Krippl P 2004	15019160				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Cancer letters. 2004 Mar;206(1):59-62	The 825C>T polymorphism of the G-protein beta-3 subunit gene (GNB3) and breast cancer.		139130	2901	1	2004	We conclude that  the GNB3 825C>T polymorphism does not appear to be associated with breast cancer risk, but may influence development of metastasis in low-grade tumors.											
124069	Y	cardiovascular	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Arteriosclerosis	12	12p13	GNB3	6819378	6826818		Yamamoto M 2004	15033462				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	KGB	2784	Hs.631657			Biochemical and biophysical research communications. 2004 Apr;316(3):744-8	Association of GNB3 gene with pulse pressure and clustering of risk factors for cardiovascular disease in Japanese.		139130	2896	1	2004	Although the effect of the gene on each phenotype appears to be weak, considering the combined impact of the effects of the C825T polymorphism on risk factors, the GNB3 gene may be an important gene for human health.	Cohort a large Japanese population										
124070		diabetes, type 2	METABOLIC	MET	Kidney Diseases|Diabetic Nephropathies|Albuminuria|Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Zychma MJ 2000	10970984				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			Y Wang	2784	Hs.631657	diabetic nephropathy		American journal of nephrology. 2000 Jul-Aug;20(4):305-10	G-Protein beta(3) subunit C825T variant, nephropathy and hypertension in patients with type 2 (Non-insulin-dependent) diabetes mellitus.		139130	2897	1	2000	 The study provided evidence against the major impact of the GNB3 C825T polymorphism on the increased risk of the development of nephropathy or hypertension in type 2 diabetic patients.											
124071		overweight	METABOLIC	MET	Obesity	12	12p13	GNB3	6819378	6826818		Suwazono Y 2004	14742836				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	KGB	2784	Hs.631657			Obesity research. 2004 Jan;12(1):8-Apr	Lack of association between human G-protein beta3 subunit variant and overweight in Japanese workers.		139130	2898	1	2004												
124066	N	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1	12	12p13	GNB3	6819378	6826818	n	Fogarty DG et al. 1998	9833937				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657	diabetic nephropathy		Diabetologia. 1998 Nov;41(11):1304-8	The C825T polymorphism in the human G-protein beta3 subunit gene is not associated with diabetic nephropathy in Type I diabetes mellitus.		139130	2893	1	1998												
124067	Y	coronary artery vasoconstriction.	CARDIOVASCULAR	CARD	Coronary Vasospasm	12	12p13	GNB3	6819378	6826818		Meirhaeghe A et al. 2001	11350093				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			European heart journal. 2001 May;22(10):845-8	The human G-protein beta3 subunit C825T polymorphism is associated with coronary artery vasoconstriction.		139130	2894	1	2001	 The C825T polymorphism of the G-protein beta3 subunit may be a genetic determinant of coronary artery vasomotion in humans.											
124068	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Teraguchi H 2004	15046042	825C -> T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese		KGB	2784	Hs.631657			Journal of cardiology. 2004 Feb;43(2):92-3	Prediction of genetic risk for hypertension		139130	2895	1	2004	 These results suggest that two and one genes may be susceptibility loci for hypertension in Japanese men and women, respectively, and that genotyping of these polymorphisms may prove informative for prediction of the genetic risk for hypertension.	Case:1067; Control:873										
124061	Y	normal variation	NORMALVARIATION	NV		12	12p13	GNB3	6819378	6826818		Nurnberger J 2003	12844135	C825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657	young, healthy male subjects.		Clinical pharmacology and therapeutics. 2003 Jul;74(1):53-60	Effect of the C825T polymorphism of the G protein beta 3 subunit on the systolic blood pressure-lowering effect of clonidine in young, healthy male subjects.		139130	2888	1	2003	The results of this study suggest that the 825T allele may be a relevant pharmacogenetic marker in the use of centrally acting sympatholytic drugs.											
124062	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Zeltner R et al. 2001	11244012				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Hypertension. 2001 Mar;37(3):882-6	G-protein beta(3) subunit gene (GNB3) 825T allele is associated with enhanced renal perfusion in early hypertension.		139130	2889	1	2001	The GNB3 825T variant is associated with increased renal perfusion in this study. Because early renal hemodynamic changes play a pivotal role in the pathogenesis of essential hypertension, our data suggest a relevance of increased G-protein activation in the pathogenesis of hypertension.											
124064	Y	reduced kidney allograft survival	OTHER	OTH	Kidney Failure, Chronic	12	12p13	GNB3	6819378	6826818		Beige J et al. 1999	10446939				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Journal of the American Society of Nephrology. 1999 Aug;10(8):1717-21	Donor G protein beta3 subunit 825TT genotype is associated with reduced kidney allograft survival.		139130	2891	1	1999												
124058	Y	Venous response to nitroglycerin	OTHER	OTH		12	12p13	GNB3	6819378	6826818		Mitchell A 2003	14586390	825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Clinical pharmacology and therapeutics. 2003 Nov;74(5):499-504	Venous response to nitroglycerin is enhanced in young, healthy carriers of the 825T allele of the G protein beta3 subunit gene (GNB3).		139130	2885	1	2003	 Our results suggest that the GNB3 C825T polymorphism determines venous response to nitroglycerin and that G proteins may be involved in the signal transduction pathway.											
124059	Y	grade II hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818	0.021	Sartori M 2003	14557282	825T		coding sequence	Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	461 grade I hypertensives		KGB	2784	Hs.631657			Hypertension. 2003 Nov;42(5):909-14	G-protein beta3-subunit gene 825T allele and hypertension: a longitudinal study in young grade I hypertensives.		139130	2886	1	2003	In young patients with grade I hypertension, the 825T allele is associated with increased risk of progression to more severe hypertension requiring antihypertensive therapy. The GNB3 825T allele may be considered a genetic marker of predisposition for hypertension.											
124060	Y	seasonal affective disorder	OTHER	OTH	Seasonal Affective Disorder	12	12p13	GNB3	6819378	6826818		Willeit M 2003	14512207				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Biological psychiatry. 2003 Oct;54(7):682-6	C825T polymorphism in the G protein beta3-subunit gene is associated with seasonal affective disorder.		139130	2887	1	2003	 The G(beta)3 C825T polymorphism was associated with SAD in our study sample. This finding strengthens the evidence for the involvement of G protein-coupled signal transduction in the pathogenesis of affective disorder.											
124054	N	renal transplant rejection	IMMUNE	IMM	Kidney Failure, Chronic	12	12p13	GNB3	6819378	6826818	n	Hocher B et al. 2002	12000471	825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Pediatric transplantation. 2002 Apr;6(2):141-6	G protein beta3 subunit 825T genotype is not associated with differing outcome in pediatric renal transplant recipients.		139130	2881	1	2002	In conclusion, in a sizeable number of pediatric renal transplant recipients the GNB3 C825T polymorphism was found not to be a genetic risk factor for end-stage kidney disease. In addition, kidney graft function and survival was also found not to be associated with a recipient GNB3 C825T polymorphism.											
124055	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	12	12p13	GNB3	6819378	6826818	n	Serretti A et al. 2002	11992559			coding sequence	Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Italian (Caucasian)		Serretti	2784	Hs.631657			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: Analysis of COMT, MAO-A, and Gbeta3 variants		139130	2882	1	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months	lithium									
124056	Y	major and bipolar depressives	PSYCH	PSY	Depressive Disorder	12	12p13	GNB3	6819378	6826818	P=0.009	Serretti A et al. 2003	12650956			coding sequence	Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Italian (Caucasian)		Serretti	2784	Hs.631657			European neuropsychopharmacology. 2003 Mar;13(2):117-22	SSRIs antidepressant activity is influenced by Gbeta3 variants		139130	2883	1	2003	Subjects with Gbeta3 T/T variants showed better response to treatment (P=0.009) and this effect was independent from analyzed demographic and clinical variables.	Case:490										
124051	Y	depression	PSYCH	PSY		12	12p13	GNB3	6819378	6826818		Exton MS 2003	12634518	825T and 825C alleles			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	healthy medical students		KEW	2784	Hs.631657			Neuroreport. 2003 Mar;14(3):531-3			139130	2878	1	2003	We conclude that  the G protein beta3 subunit 825T allele is predictive of depressive mood in a young, healthy population.											
124052	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Siffert W et al. 1998	9425898				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Nature genetics. 1998 Jan;18(1):45-8	Association of a human G-protein beta3 subunit variant with hypertension.		139130	2879	1	1998	Genotype analysis of 427 normotensive and 426 hypertensive subjects suggests a significant association of the T allele with essential hypertension.											
124053	Y	radial artery hypertrophy	CARDIOVASCULAR	CARD	Vascular Diseases|Hypertrophy	12	12p13	GNB3	6819378	6826818		Hanon O et al. 2002	12566975	825t			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Journal of vascular research. 2002 Nov-Dec;39(6):497-503	Association between the G protein beta3 subunit 825t allele and radial artery hypertrophy.		139130	2880	1	2002	These results suggest that some genetic characteristics determine in part the patterns of radial artery geometrical changes. As the 825T allele is associated with vascular hypertrophy of a muscular artery but not with structural changes of an elastic artery, we hypothesize that the 825T allele may be a genetic marker of arteriolosclerosis.	Cohort 306 subjects (age 49 +/- 12 years) without evidence of cardiovascular disease and never treated with cardiovascular drugs										
124049	Y	serum potassium and total cholesterol levels but not	OTHER	OTH	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Ishikawa K et al. 2000	10701813				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		Japan	KGB	2784	Hs.631657			American journal of hypertension. 2000 Feb;13(2):140-5	Human G-protein beta3 subunit variant is associated with serum potassium and total cholesterol levels but not with blood pressure.		139130	2876	1	2000	The T825 allele of GNB3 is associated with increased serum potassium and total cholesterol levels but not with blood pressure in a Japanese population.											
124050		bipolar disorder	PSYCH	PSY	Bipolar Disorder	12	12p13	GNB3	6819378	6826818		Corson TW et al. 2001	11317211				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Molecular psychiatry. 2001 Mar;6(2):125-6	Association analysis of G-protein beta 3 subunit gene with altered Ca(2+) homeostasis in bipolar disorder.		139130	2877	1	2001												
124044	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818	n	Snapir A et al. 2001	11725157	C825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Journal of hypertension. 2001 Dec;19(12):2149-55	G-protein beta3 subunit C825T polymorphism: no association with risk for hypertension and obesity.		139130	2871	1	2001	 We conclude that the C825T polymorphism of the G-protein beta3 subunit gene does not notably contribute to the development of hypertension or obesity, and is not a significant determinant for blood pressure and body mass index in white men.											
124045	Y	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	12	12p13	GNB3	6819378	6826818		Dzida G et al. 2002	12165748				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Polish	Poland	KGB	2784	Hs.631657	diabetic hypertension		Medical science monitor. 2002 Aug;8(8):CR597-602	G-protein beta3 subunit gene C825T polymorphism is associated with arterial hypertension in Polish patients with type 2 diabetes mellitus.		139130	2872	1	2002	 In this population, the T825 variant of the GNB3 gene was not associated with type 2 diabetes itself, nor with overweight and obesity, but was associated with diabetic hypertension. Upon confirmation of our results this variant may be useful as a genetic marker of susceptibility to hypertension and vascular complications in type 2 diabetes.											
124047	Y	enhanced atrial inward rectifier potassium currents	OTHER	OTH	Heart Diseases	12	12p13	GNB3	6819378	6826818		Dobrev D et al. 2000	10931811				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Circulation. 2000 Aug;102(6):692-7	G-Protein beta(3)-subunit 825T allele is associated with enhanced human atrial inward rectifier potassium currents.		139130	2874	1	2000	 We found an association between the Gbeta(3) 825T allele and amplitude of human atrial I(K1) and I(K,ACh). Increased background current density in TT carriers could shorten action potential duration and may be due to I(K,ACh) being constitutively active in this genotype.											
124041	Y	hypertension	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	12	12p13	GNB3	6819378	6826818		Hengstenberg C et al. 2001	11230982				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Cardiovascular research. 2001 Mar;49(4):820-7	Association between a polymorphism in the G protein beta3 subunit gene (GNB3) with arterial hypertension but not with myocardial infarction.		139130	2868	1	2001	 In male individuals from a large population-based sample, the T allele of the GNB3 polymorphism was associated with arterial hypertension. However, the effects of the GNB3 825T allele on blood pressure were small and did not translate to a clinically relevant increase of risk for MI.	Control:2052 Individuals from a population-based sample;Case:606 patients suffering from premature MI										
124042	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Jacobi J et al. 1999	10526907				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Journal of hypertension. 1999 Oct;17(10):1457-62	825T allele of the G-protein beta3 subunit gene (GNB3) is associated with impaired left ventricular diastolic filling in essential hypertension.		139130	2869	1	1999	 The GNB3 825T allele was associated with impaired left ventricular diastolic filling in hypertensive subjects in this study. Since alterations in left ventricular filling have been identified as an early marker of hypertensive heart disease, the GNB3 C825T polymorphism may influence cardiac adaptation to increased afterload.											
124043	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Dong Y et al. 1999	10601117				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2		Africa|Caribbean Region|London	KGB	2784	Hs.631657			Hypertension. 1999 Dec;34(6):1193-6	Association between the C825T polymorphism of the G protein beta3-subunit gene and hypertension in blacks.		139130	2870	1	1999	The study shows, for the first time, a high frequency of the 825T allele in black people, and it provides evidence that the T allele may be a susceptibility factor for the development of hypertension in blacks.											
124037	N	cone-rod dystrophies	VISION	VIS	Retinal Degeneration	1	1p13.1	GH	109857755	109867747		Pina AL 2004	15094710	lysine-270			Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005272			KGB	2780	Hs.36973			Molecular vision [electronic resource]. 2004 Apr;10:265-71	A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.		139340	2865	1	2004	 We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule. The co-segregation analysis showed that the deletion is not co-inherited with the disease phenotype and therefore is not the disease causing mutation. Apparently the function of this molecule is not altered by this mutation, due to a compensatory effect of aminoacid 271. Taken together, the presence of this deletion in healthy individuals, and our protein modeling results, predict that alpha-cone transducin molecule is able to tolerate structurally and functionally the K270del.											
124038		asthma	IMMUNE	IMM	Asthma	1	1p36.33	GNB1	1706588	1812355		Dewar, J. C.  et al. 2003	12724032				Guanine nucleotide binding protein (G protein), beta polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002074.2		Great Britain	CDC GDPinfo	2782	Hs.430425			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		139380	28144	2	2003	Review article											
124039	Y	hypertension and obesity	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension|Insulin Resistance	12	12p13	GNB3	6819378	6826818	0.012	Wascher TC 2003	12624279	GNB3 825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	white subjects of middle eastern (Austrian) origin	Austria	KEW	2784	Hs.631657	insulin resistance and cartoid atherosclerosis		Stroke; a journal of cerebral circulation. 2003 Mar;34(3):605-9			139130	2866	1	2003	 In summary, our results demonstrate that the GNB3 825T allele is associated with reduced insulin sensitivity in men with abdominal fat distribution and with more advanced carotid atherosclerosis in middle-aged white men and women.											
124034	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder	19	19p11-p12	GMIP	19601284	19615455		Tadokoro, K.  et al. 2005	16086184				GEM interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016573.2			CDC GDPinfo	51291	Hs.49427			Neurogenetics. 2005 Sep;6(3):127-33	The Gem interacting protein (GMIP) gene is associated with major depressive disorder.		609694	16961	2	2005												
124035		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease	7	7p22-p21	GNA12	2734266	2850485		Iida, A.  et al. 2004	15221642				Guanine nucleotide binding protein (G protein) alpha 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007353.2			CDC GDPinfo	2768	Hs.487341			Journal of human genetics. 2004 ;49(8):445-8	Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.		604394	16962	2	2004	The collection of genetic variations reported here will serve as a useful resource for analyzing potential associations between genotypes and susceptibility to common diseases as well as efficacy and/or adverse reactions to drugs.	Cohort Japanese individuals 										
124036	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	18	18p11.22-p11.21	GNAL	11679264	11871919		Zill, P.  et al. 2003	12782961				Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182978.1			CDC GDPinfo	2774	Hs.136295			Psychiatric genetics. 2003 Jun;13(2):65-9	Analysis of polymorphisms in the alpha-subunit of the olfactory G-protein Golf in lithium-treated bipolar patients.		139312	10833	2	2003	 The results of the present study do not support the hypothesis that the G(olf) gene is a major susceptibility factor for bipolar disorders.	Control:139 healthy controls;Case:149 bipolar patients under litium treatment	lithium									
124031	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	2	2q32-q34	GLS	191453846	191538515		Zhang, B.  et al. 2005	15642443				Glutaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014905.2			CDC GDPinfo	2744	Hs.116448			European psychiatry. 2005 Jan;20(1):45-9	An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.		138280	26880	2	2005	Therefore, we conclude the polymorphisms studied in the five genes do not play major roles in pathogenesis of paranoid schizophrenia in the population investigated.	Control:108 matched controls;Case:80 paranoid schizophrenics northern China										
124032	Y	brain cancer	CANCER	CAN	Astrocytoma|Oligodendroglioma|Brain Neoplasms|Chromosome Deletion	19	19q13.3	GLTSCR1	52803264	52898291		Yang, P.  et al. 2005	15834925				Glioma tumor suppressor candidate region gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015711.1			CDC GDPinfo	29998	Hs.97244			Cancer. 2005 Jun;103(11):2363-72	Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas.		605690	21526	2	2005	 These results suggested that alterations in GLTSCR1 (or a closely linked gene) were associated with the development and progression of oligodendroglioma.	Control:108 general controls;Case:141 cases with gliomas (61 cases with astrocytomas, 40 cases with oligodendrogliomas, 40 cases with mixed:oligoastrocytomas)										
124033	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	1	1q31	GLUL	180618291	180627573		Zhang, B.  et al. 2005	15642443				Glutamate-ammonia ligase (glutamine synthetase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002065.4			CDC GDPinfo	2752	Hs.518525			European psychiatry. 2005 Jan;20(1):45-9	An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.		138290	27430	2	2005	Therefore, we conclude the polymorphisms studied in the five genes do not play major roles in pathogenesis of paranoid schizophrenia in the population investigated.	Control:108 matched controls;Case:80 paranoid schizophrenics northern China										
124028		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21	GLP1R	39124594	39163497		Tokuyama, Y.  et al. 2004	15364163				Glucagon-like peptide 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002062.2	Japanese	Japan	CDC GDPinfo	2740	Hs.389103			Diabetes research and clinical practice. 2004 Oct;66(1):63-9	Five missense mutations in glucagon-like peptide 1 receptor gene in Japanese population.		138032	16959	2	2004	Thr149Met mutation was detected in one case among 791 type 2 diabetes patients, but not in control subjects. The patient with this mutation exhibited impairment of both insulin secretion, insulin sensitivity and glucose effectiveness, which may be partially explained by Thr149Met mutation in GLP-1R, though family linkage analysis and function analysis remain to be examined.	Control:318:controls;Case:791 unrelated Japanese type 2 diabetic subjects a										
124029	N	epilepsy, idiopathic generalized	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	4	4q33-q34	GLRA3	175799772	175987040		Sobetzko, D.  et al. 2001	11496371				Glycine receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006529.1			CDC GDPinfo	8001	Hs.413099			American journal of medical genetics. 2001 Aug;105(6):534-8	Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.		600421	16960	2	2001	Thus, no association between IGE and alterations in GLRA3 or GLRB genes could be detected, indicating that both genes do not play a major causative role in the epileptogenesis of common IGE subtypes. Still, these novel single nucleotide polymorphisms may be useful markers for candidate gene analyses of other disorders.	Case:104 a group of sporadic IGE patients;Control:141 not specified in abstract										
124030	N	epilepsy, idiopathic generalized	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	4	4q31.3	GLRB	158216787	158312301		Sobetzko, D.  et al. 2001	11496371				Glycine receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000824.2			CDC GDPinfo	2743	Hs.32973			American journal of medical genetics. 2001 Aug;105(6):534-8	Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.		138492	21525	2	2001	Thus, no association between IGE and alterations in GLRA3 or GLRB genes could be detected, indicating that both genes do not play a major causative role in the epileptogenesis of common IGE subtypes. Still, these novel single nucleotide polymorphisms may be useful markers for candidate gene analyses of other disorders.	Case:104 a group of sporadic IGE patients;Control:141 not specified in abstract										
124025		atherosclerosis, coronary; tuberculosis	CARDIOVASCULAR	CARD		6	6p21.3-p21.1	GLO1	38751679	38778930		Evseeva IV  et al. 2001	11771313				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1	Russian		CDC GDPinfo	2739	Hs.268849			Genetika. 2001 Nov;37(11):1571-7	[Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of Russia]		138750	26024	2	2001	Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean FST = 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1 locus (FST = 0.056).											
124026		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3-p21.1	GLO1	38751679	38778930			11785295				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDPinfo	2739	Hs.268849			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		138750	26879	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
124027		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	6	6p21.3-p21.1	GLO1	38751679	38778930			11436564				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDPinfo	2739	Hs.268849			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		138750	27429	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
124021		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q14	GLI2	121210292	121466321			16327884				GLI-Kruppel family member GLI2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005270.3			CDC GDPinfo	2736	Hs.111867			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		165230	21524	2	2005												
124022		pro-thrombotic factors	UNKNOWN	UNK	Diabetic Angiopathies|Genetic Predisposition to Disease	6	6p21.3-p21.1	GLO1	38751679	38778930			16305054				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDPinfo	2739	Hs.268849			Diabetes & vascular disease research. 2004 May;1(1):34-9	Common polymorphisms in the glyoxalase-1 gene and their association with pro-thrombotic factors		138750	10830	2	2004												
124023		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	6	6p21.3-p21.1	GLO1	38751679	38778930			16352396				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDPinfo	2739	Hs.268849			Neuroscience letters. 2005	Association analysis of the functional Ala111Glu polymorphism of the glyoxalase I gene in panic disorder		138750	10831	2	2005												
124018		hearing loss/deafness	OTHER	OTH	Hearing Loss|Hearing Loss, Sensorineural|Vestibulocochlear Nerve Diseases	13	13q11-q12.1	GJB6	19694100	19704372		Cheng, X.  et al. 2005	16222667				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDPinfo	10804	Hs.511757			American journal of medical genetics Part A. 2005 Nov;139(1):13-8	Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.		604418	21523	2	2005												
124019		Fabry disease	METABOLIC	MET	Fabry Disease	X	Xq22	GLA	100539434	100549657		Schafer, E.  et al. 2005	15776423				Galactosidase, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000169.1			CDC GDPinfo	2717	Hs.69089			Human mutation. 2005 Apr;25(4):412	Thirty-Four Novel Mutations of the GLA Gene in 121 Patients with Fabry Disease		301500	16958	2	2005	Both point mutations (74.4%) and 'short length' rearrangements (25.6%) were found, including missense (54.4%), nonsense (14.4%), and splice site point mutations (5.6%), deletions (17.8%) or insertions/duplications (5.6%) of a few nucleotides, and complex rearrangements including larger deletions (2.2%). GLA mutations were identified in 82 (97.6%) of the 84 unrelated male patients.	Cohort 121 Fabry disease patients including 84 male and 37 female index cases 										
124020	Y	pituitary anomalies and holoprosencephaly-like features.	OTHER	OTH	Skin Neoplasms|Holoprosencephaly|Facies	2	2q14	GLI2	121210292	121466321		Roessler E 2003	14581620				GLI-Kruppel family member GLI2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005270.3			KGB	2736	Hs.111867			Proceedings of the National Academy of Sciences of the United States of America. 2003 Nov;100(23):13424-9	Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.		165230	2864	1	2003												
124014		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Belintani Piatto, V.  et al. 2004	15464305				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2		Brazil	CDC GDPinfo	10804	Hs.511757			Hearing research. 2004 Oct;196(2-Jan):87-93	Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.		604418	21519	2	2004	These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients.	Cohort 33 unrelated non-syndromic deaf Brazilians 										
124015		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Frei, K.  et al. 2004	15464308				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2	Eastern Austria	Austria	CDC GDPinfo	10804	Hs.511757			Hearing research. 2004 Oct;196(2-Jan):115-8	Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.		604418	21520	2	2004	Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria.	Cohort 76 unrelated individuals (33 families and 43 sporadic cases) with deafness from eastern Austria Eastern Austria 										
124016		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Dalamon, V.  et al. 2005	15964725				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2		Argentina	CDC GDPinfo	10804	Hs.511757			Hearing research. 2005 Sep;207(2-Jan):43-9	Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.		604418	21521	2	2005												
124011		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sensorineural|Disease Progression	13	13q11-q12.1	GJB6	19694100	19704372		Ravecca, F.  et al. 2005	16076412				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDPinfo	10804	Hs.511757			The Journal of otolaryngology. 2005 Apr;34(2):126-34	Cx26 gene mutations in idiopathic progressive hearing loss.		604418	16955	2	2005	 About 23% of our patients (nine subjects) presented with mutations in GJB2, and 18% (seven subjects) were heterozygous. However, most of the described mutations are recessive, so a monogenic model of inheritance cannot explain the deafness phenotype. On the basis of these findings, we can speculate that the heterozygote Cx26 genotype could be a cause of progressive hearing loss, probably in association with mutations in other alleles. Thus, we recommend carefully following all hearing-impaired subjects with GJB2 mutations, even if they present with only mild hearing loss, because the hearing deficit could worsen. Furthermore, molecular analysis of the Cx26 gene should also be performed in adult patients affected with idiopathic progressive hearing loss.											
124012		hearing loss/deafness	OTHER	OTH	Hearing Loss	13	13q11-q12.1	GJB6	19694100	19704372		Fitzgerald, T.  et al. 2004	15025729				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2		New York	CDC GDPinfo	10804	Hs.511757			Clinical genetics. 2004 Apr;65(4):338-42	The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility ofgenetic screening for hearing defects		604418	21517	2	2004	Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342-kb deletion in the GJB6 gene.	Cohort 2089 consecutive anonymous newborn dried blood specimens tested for two GJB2 mutations Cohort 2112 additional anonymous newborn dried blood specimens tested for the GJB6 342-kb deletion 										
124013	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss	13	13q11-q12.1	GJB6	19694100	19704372		Gronskov, K.  et al. 2004	15345117				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2	Danish	Denmark	CDC GDPinfo	10804	Hs.511757			Genetic testing. 2004 ;8(2):181-4	GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment		604418	21518	2	2004	In conclusion, our data are in accordance with results from other Northern European populations. Furthermore, our data on the GJB6 deletion suggest that routine screening for this deletion could help to explain hearing impairment in some Northern European NSHI patients heterozygous for a mutation in GJB2.	Cohort 44 non-syndromic hearing impairment patients of Spanish origin Cohort 509 unselected samples from the Danish newborn population 										
124008		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss	13	13q11-q12.1	GJB6	19694100	19704372		Del Castillo, I.  et al. 2003	14571368				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2		United States|Israel|Europe	CDC GDPinfo	10804	Hs.511757			American journal of human genetics. 2003 Dec;73(6):1452-8	Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.		604418	16947	2	2003	Our results also suggest that additional mutations remain to be identified, either in DFNB1 or in other unlinked genes involved in epistatic interactions with GJB2. Analysis of haplotypes associated with the deletion revealed a founder effect in Ashkenazi Jews and also suggested a common founder for countries in Western Europe. These results have important implications for the diagnosis and counseling of families with DFNB1 deafness.	Cohort a cohort of Spanish patients 										
124009		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Erbe, C. B.  et al. 2004	15064611				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDPinfo	10804	Hs.511757			The Laryngoscope. 2004 Apr;114(4):607-11	Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.		604418	16949	2	2004	 Cx26 and Cx30 mutations were present in 41.2% of children tested in the study population. Audiometric data supported previous studies demonstrating a greater degree of hearing loss in subjects who are homozygous for the 35delG mutation.	Cohort 68 children with nonsyndromic sensorineural hearing loss 										
124010		deafness	OTHER	OTH	Deafness	13	13q11-q12.1	GJB6	19694100	19704372		Feldmann, D.  et al. 2004	15150777				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDPinfo	10804	Hs.511757			American journal of medical genetics Part A. 2004 Jun;127(3):263-7	Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypicand phenotypic analysis.		604418	16950	2	2004	Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss.	Cohort 255 French patients presenting with a phenotype compatible with DFNB1 										
124005		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Bilateral	1	1p34	GJB3	35019376	35025436		Mhatre, A.  et al. 2003	12630965				Gap junction protein, beta 3, 31kDa (connexin 31)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024009.2			CDC GDPinfo	2707	Hs.522561			Clinical genetics. 2003 Feb;63(2):154-9	Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.		603324	16944	2	2003	This study suggests that while sequence alterations are common, pathogenic mutations of CX31 are infrequent in sporadic non-syndromic hearing impairment.	Cohort 63 individuals with non-syndromic hearing impairment 										
124006	N	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural|Chromosome Disorders	1	1p34	GJB3	35019376	35025436		Frei, K.  et al. 2004	15276679				Gap junction protein, beta 3, 31kDa (connexin 31)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024009.2		Austria	CDC GDPinfo	2707	Hs.522561			Hearing research. 2004 Aug;194(2-Jan):81-6	Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria		603324	16945	2	2004	Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations.	Cohort familial and sporadic cases of isolated non-syndromic hearing impaired patients Austria 										
124007	N	hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural|Syndrome	13	13q11-q12.1	GJB6	19694100	19704372		Gunther, B.  et al. 2003	12872268				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2		Turkey|Austria|Bosnia-Herzegovina|Yugoslavia	CDC GDPinfo	10804	Hs.511757			Human mutation. 2003 Aug;22(2):180	The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.		604418	16946	2	2003	None of these patients was carrying the deletion in GJB6 indicating that the occurrence of this deletion is restricted to certain populations.	Cohort 393 patients with non-syndromic hearing loss Austria, Turkey, Serbia and Bosnia 										
124001		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Dalamon, V.  et al. 2005	15964725				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Argentina	CDC GDPinfo	2706	Hs.591234			Hearing research. 2005 Sep;207(2-Jan):43-9	Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.		121011	16954	2	2005												
124003		hearing loss/deafness	OTHER	OTH	Hearing Loss|Hearing Loss, Sensorineural|Vestibulocochlear Nerve Diseases	13	13q11-q12	GJB2	19659604	19665114		Cheng, X.  et al. 2005	16222667				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			American journal of medical genetics Part A. 2005 Nov;139(1):13-8	Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.		121011	16957	2	2005												
124004		deafness, nonsyndromic	OTHER	OTH	Deafness|Genetic Predisposition to Disease	13	13q11-q12	GJB2	19659604	19665114		Hutchin, T.  et al. 2005	16283880				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Clinical genetics. 2005 Dec;68(6):506-12	Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.		121011	19493	2	2005												
123998	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss	13	13q11-q12	GJB2	19659604	19665114		Gronskov, K.  et al. 2004	15345117				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Danish	Denmark	CDC GDPinfo	2706	Hs.591234			Genetic testing. 2004 ;8(2):181-4	GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment		121011	16951	2	2004	In conclusion, our data are in accordance with results from other Northern European populations. Furthermore, our data on the GJB6 deletion suggest that routine screening for this deletion could help to explain hearing impairment in some Northern European NSHI patients heterozygous for a mutation in GJB2.	Cohort 44 non-syndromic hearing impairment patients of Spanish origin Cohort 509 unselected samples from the Danish newborn population 										
123999		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Belintani Piatto, V.  et al. 2004	15464305				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Brazil	CDC GDPinfo	2706	Hs.591234			Hearing research. 2004 Oct;196(2-Jan):87-93	Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.		121011	16952	2	2004	These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients.	Cohort 33 unrelated non-syndromic deaf Brazilians 										
124000		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Frei, K.  et al. 2004	15464308				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Eastern Austria	Austria	CDC GDPinfo	2706	Hs.591234			Hearing research. 2004 Oct;196(2-Jan):115-8	Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.		121011	16953	2	2004	Data therefore exclude a digenetic association of del(GJB6-D13S1830) with heterozygous GJB2 mutations as a cause of deafness in a representative sample of the population from Eastern Austria.	Cohort 76 unrelated individuals (33 families and 43 sporadic cases) with deafness from eastern Austria Eastern Austria 										
123995	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Bilateral|Syndrome	13	13q11-q12	GJB2	19659604	19665114		Shi, G. Z.  et al. 2005	15932734				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Zhonghua yi xue za zhi. 2005 Mar;85(10):689-92	[Mutations of GJB2 gene in infants with non-syndromic hearing impairment]		121011	16942	2	2005	 GJB2 analysis is an important test for infants with severe-to-profound bilateral NSHI. 235delC is the main pathogenic mutation site in GJB2 gene.	Case:20 infants with severe-to-profound bilateral non-syndromic hearing impairment, 11 male and 9 female, aged 3 months to 3 years;Control:50 persons with normal hearing, 25 males and 25 female, aged 20 approximately 50, all without family history of hearing impairment										
123997		hearing loss/deafness	OTHER	OTH	Hearing Loss	13	13q11-q12	GJB2	19659604	19665114		Fitzgerald, T.  et al. 2004	15025729				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		New York	CDC GDPinfo	2706	Hs.591234			Clinical genetics. 2004 Apr;65(4):338-42	The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility ofgenetic screening for hearing defects		121011	16948	2	2004	Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342-kb deletion in the GJB6 gene.	Cohort 2089 consecutive anonymous newborn dried blood specimens tested for two GJB2 mutations Cohort 2112 additional anonymous newborn dried blood specimens tested for the GJB6 342-kb deletion 										
123992		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Preciado, D. A.  et al. 2004	15577772				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Otolaryngology--head and neck surgery. 2004 Dec;131(6):804-9	A diagnostic paradigm for childhood idiopathic sensorineural hearing loss		121011	16939	2	2004	 Based on diagnostic yields, we propose a cost-effective stepwise diagnostic paradigm to replace the more commonly used and costly simultaneous testing approach. EBM RATING: C.	Cohort patients presenting with childhood idiopathic sensorineural hearing loss 1993 - 2002 										
123993	Y	hearing loss/deafness	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease	13	13q11-q12	GJB2	19659604	19665114		Oguchi, T.  et al. 2005	15700112				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Journal of human genetics. 2005 ;50(2):76-83	Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss iscorrelated with genotypes and protein expression patterns.		121011	16940	2	2005	The results of the present study, taken together with phenotypes caused by other types of mutations, support the general rule that phenotypes caused by the truncating GJB2 mutations are more severe than those caused by missense mutations. The present in vitro study further confirmed that differences in phenotypes could be explained by the protein expression pattern.	Cohort 60 Japanese hearing impaired patients 										
123994		hearing loss	OTHER	OTH	Hearing Loss	13	13q11-q12	GJB2	19659604	19665114		Piatto, V. B.  et al. 2005	15858675				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Brazil	CDC GDPinfo	2706	Hs.591234			Jornal de pediatria. 2005 Mar-Apr;81(2):139-42	[Prospects for genetic hearing loss screening:35delG mutation tracking in a newborn population]		121011	16941	2	2005	 Using the molecular test allowed for the identification of the 35delG mutation in the study population with the possibility of being used as a complement to neonatal audiometric screening as being simple, fast, and easily to perform with low costs.	Cohort 233 newborns Brazil 										
123989		hearing loss, sensorineural	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Mesolella, M.  et al. 2004	15236885				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			International journal of pediatric otorhinolaryngology. 2004 Aug;68(8):995-1005	Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearingrehabilitation.		121011	16936	2	2004	 In conclusion, we hope that further developments in the research on genetic hearing impairments will promptly result in advances in clinical practice.	Cohort 39 patients, 16 males and 23 females, aged between six and 17 years (mean 12 years), affected by non syndromic congenital deafness, presumably hereditary Naples, Italy 										
123990	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Sinnathuray, A. R.  et al. 2004	15547422				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Otology & neurotology. 2004 Nov;25(6):930-4	Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.		121011	16937	2	2004	 Pediatric cochlear implantees with GJB2-related deafness appear to have equal or better speech discrimination compared with a group of prelingually deaf children with deafness of unknown etiology.	Cohort 31 prelingually deaf pediatric cochlear implantees, of which there were 30 with nonsyndromic deafness of unknown etiology, and one with keratitis-ichthyosis-deafness syndrome 										
123991	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Sinnathuray, A. R.  et al. 2004	15547423				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Otology & neurotology. 2004 Nov;25(6):935-42	Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation.		121011	16938	2	2004	 In pediatric cochlear implantees, GJB2-related deafness is a predictor of good speech intelligibility.	Cohort 38/1 patients with nonsyndromic deafness of unknown cause (n=38) and a patients with keratitisichthyosis-deafness syndrome (n=1) from an observational retrospective cohort study of pediatric cochlear implantees 										
123986		hearing loss/deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Xiao, Z.  et al. 2000	12768774				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Chinese	China	CDC GDPinfo	2706	Hs.591234			Zhonghua er bi yan hou ke za zhi. 2000 Jun;35(3):188-91	[Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment]		121011	16933	2	2000	 The prevalence of deafness-causing mutations in Cx26 gene in Chinese with autosomal recessive NSHI maybe is lower than that of other ethnic groups. Heterozygous deletion AT at position 299-300 of Cx26 cDNA can lead to autosomal dominant hereditary hearing loss (DFNA3).	Control:100 normal adults;Case:16/39/30 infants with sporadic congenital deaf-mutism (n=16), patients with autosomal recessive hereditary hearing loss (n=39) and patients with autosomal dominant hereditary hearing loss (n=30)										
123987	Y	hearing loss, sensorineural	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Schade, G.  et al. 2003	12851846				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Ghana|Germany	CDC GDPinfo	2706	Hs.591234			Laryngo- rhino- otologie. 2003 Jun;82(6):397-401	[Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment]		121011	16934	2	2003	 Screening for GJB2 mutations in DNA recovered from buccal smears of individuals with inherited hearing impairment offers an easy, non-invasive method for early diagnosis and a basis of genetic counselling.	Cohort 59 Caucasian and Ghanaian individuals 										
123988	Y	hearing loss, sensorineural	OTHER	OTH	Hearing Loss|Disease Progression	13	13q11-q12	GJB2	19659604	19665114		Cryns, K.  et al. 2004	14985372				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		United States|Belgium|Italy|Spain	CDC GDPinfo	2706	Hs.591234			Journal of medical genetics. 2004 Mar;41(3):147-54	A genotype-phenotype correlation for GJB2 (connexin 26) deafness.		121011	16935	2	2004	 This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes. Furthermore, this study shows that it will be possible to refine this correlation and extend it to additional genotypes. These data will be useful in evaluating habilitation options for people with GJB2 related deafness.	Cohort 277 unrelated patients with hearing impairment Italy, Belgium, Spain and US 										
123983		hearing loss, sensorineural	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Simsek, M.  et al. 2002	12490065			promoter	Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Genetic testing. 2002 ;6(3):225-8	A PCR-RFLP test for simultaneous detection of two single-nucleotide insertions in the Connexin-26 gene promoter.		121011	16930	2	2002	All of the samples analyzed using the PCR test and DNA sequencing were found to contain both the G and A insertions in the GJB2 gene promoter. This PCR test will be useful in studying the prevalence of these two insertions in other populations.	Control:160 control subjects;Case:51 unrelated patients with nonsyndromic autosomal recessive deafness										
123984		hearing loss, sensorineural	OTHER	OTH	Hearing Loss|Deafness|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114			12501766				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Vestnik otorinolaringologii. 2002 ;(6):5-Dec	[DNA diagnosis in congenital and early childhood hypoacusis and deafness]		121011	16931	2		Thus, mutations in connexine gene26 present a problem for parents with normal hearing. Therefore, families with a deaf child should be referred for medicogenetic consultations.	Cohort 75 children with isolated hypoacusis (deafness) 										
123985	N	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Gallo-Teran, J.  et al. 2002	12530196				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Spain	CDC GDPinfo	2706	Hs.591234			Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71	[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria]		121011	16932	2	2002	 The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.	Case:21 patients from 21 non-consanguineous unrelated families affected by late-onset bilateral non-syndromic sensoineural hearing loss:Cantabria										
123980		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Frei, K.  et al. 2002	12107817				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Austria	CDC GDPinfo	2706	Hs.591234			European journal of human genetics. 2002 Jul;10(7):427-32	Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.		121011	16927	2	2002	The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method.	Cohort 46/40 individuals from affected families (n=46) and sporadic cases (n=40) 										
123981		deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Hanamitsu, M.  et al. 2002	12174613				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Nippon Jibiinkoka Gakkai kaiho. 2002 Jul;105(7):799-803	[Detection with restriction enzyme for mutation 233delC of the connexin26 gene]		121011	16928	2	2002	 In targeting the mutation 233delC of the connexin 26 gene, restriction enzyme Apa I appears to be the most useful and economic method.	Cohort 61 patients visiting the hospital suspected of hereditary deafness March 1997 - October 1999 										
123982		hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural|Diseases in Twins	13	13q11-q12	GJB2	19659604	19665114		Toth, T.  et al. 2002	12420583				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Hungary	CDC GDPinfo	2706	Hs.591234			Orvosi hetilap. 2002 Oct;143(40):2285-9	[Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary]		121011	16929	2	2002	 The phenotypic manifestation varied in 30% of all analyzed patients, making genetic counseling extremely difficult. Due to this knowledge mutation analysis of GJB2 cannot distinctly predict the degree of hearing impairment.	Control:cont;Case:30 sporadic cases with nonsyndromic hearing impairment										
123977		deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Lerer, I.  et al. 2001	11668644				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Human mutation. 2001 Nov;18(5):460	A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: Anovel founder mutation in Ashkenazi Jews		121011	16924	2	2001	The deletion mutation was on the same haplotypic background in all the families, and therefore is a founder mutation that increases the impact of GJB2 in the etiology of prelingual recessive non-syndromic hearing loss in the Ashkenazi population.	Cohort 100 Ashkenazi individuals from a control group 										
123978	N	deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Simsek, M.  et al. 2001	11748849				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Oman	CDC GDPinfo	2706	Hs.591234			Human mutation. 2001 Dec;18(6):545-6	Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.		121011	16925	2	2001	We conclude that  this change could not be associated with deafness since it was present in all the control and patient samples sequenced.	Control:280 healthy controls;Case:95 deaf patients										
123979		hearing loss, sensorineural	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Khidiiatova, I. M.  et al. 2002	12068628				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Caucasian	Bashkiria	CDC GDPinfo	2706	Hs.591234			Molekuliarnaia biologiia. 2002 May-Jun;36(3):438-41	[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region]		121011	16926	2	2002	Thus, the populations of the Volga-Ural region proved to vary in 35delG frequency. In total, the mutation occurs at a relatively high frequency in these populations, necessitating DNA diagnostics (including prenatal tests) for non-syndromic autosomal recessive deafness. Since 35delG is common in most Caucasian populations and can be easily detected by PCR, we think that testing for this mutation must be the first essential procedure in DNA diagnostics of hereditary hearing disorders regardless of patient's ethnicity. In further studies, we intend to analyze other mutations of GJB2 in non-syndromic autosomal recessive deafness and in other hereditary hearing disorders.	Case:50 unrelated individuals with sensorineural hearing:loss:Russia										
123974		deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Lin, D.  et al. 2001	11438992				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Human mutation. 2001 ;18(1):42-51	Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).		121011	16921	2	2001	These results yield sensitivity and specificity of 100% for DHPLC-based detection of Cx26 mutations, and demonstrate that DHPLC is a highly sensitive and specific method of screening for sequence variations in Cx26 that is time and labor efficient. Further, our experience suggests that DHPLC screening alone followed by DNA sequencing only when DHPLC is abnormal may be adequate for identification of all sequence alterations in Cx26. Copyright 2001 Wiley-Liss, Inc.	Cohort 154 patients with hereditary hearing impairment 										
123975		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Van Laer, L.  et al. 2001	11483639				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Journal of medical genetics. 2001 Aug;38(8):515-8	A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.		121011	16922	2	2001	We conclude that  the 35delG mutation is derived from a common, albeit ancient founder.	Case hearing impaired patients homozygous for the 35delG:mutation:Belgium, UK, USA;Control normal hearing controls										
123976		deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Marlin, S.  et al. 2001	11493200				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDPinfo	2706	Hs.591234			Archives of otolaryngology--head & neck surgery. 2001 Aug;127(8):927-33	Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.		121011	16923	2	2001	 Interpretation of results for the molecular diagnosis of mutations in the connexin 26 gene is difficult in almost one third of cases. Close collaboration between geneticists familiar with deafness and otolaryngologists is essential to provide a high standard of genetic advice.	Cohort 96 unrelated deaf children in whom the CX26 mutations had been detected consecutively 										
123971		Hearing loss	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114	0.008	Salvinelli F 2004	14979964	35delG			Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			KGB	2706	Hs.591234			The Journal of laryngology and otology. 2004 Jan;118(1):11-Aug	Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.		121011	2861	1	2004	Residual shape audiograms were more frequent in homozygotes. A molecular analysis for the 35delG mutation should be performed in cases of symmetric, severe-profound congenital hearing loss, as a genetic cause is probable in such cases.											
123972	Y	deafness	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Frei K 2004	14676473	439 G-->A, E147K	This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26.		Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			KGB	2706	Hs.591234			Audiology & neuro-otology. 2004 Jan-Feb;9(1):47-50	A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness.		121011	2862	1	2004	This missense mutation (E147K) is located in the highly conserved, putative K(+) channel lining sequence of the third transmembrane domain (TM3) of Cx26. Hearing impairment associated with this mutation was congenital, moderate to profound and showed no signs of progressive deterioration.											
123973		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Tekin, M.  et al. 2001	11409864				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Turkish	United States|Turkey	CDC GDPinfo	2706	Hs.591234			Human genetics. 2001 May;108(5):385-9	Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and highfrequency of the 35delG mutation in Caucasians.		121011	16920	2	2001	screening of 674 Turkish subjects with no known hearing loss revealed twelve 35delG heterozygotes but no examples of the 167delT mutation.	Cohort 674 subjects with no known hearing loss Turkey 										
123967		dominant non-syndromic sensorineural hearing loss	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Janecke AR et al. 2001	11354642				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			KGB	2706	Hs.591234			Human genetics. 2001 Mar;108(3):269-70	De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.		121011	2857	1	2001												
123969		deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Gasmelseed NM 2004	14722929				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Kenya and Sudan	Kenya|Sudan	KGB	2706	Hs.591234			Human mutation. 2004 Feb;23(2):206-7	Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.		121011	2859	1	2004		406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non-syndromic deafness.										
123970		deafness	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Roux AF 2004	15070423	35delG			Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	French	France	KGB	2706	Hs.591234			BMC medical genetics [electronic resource]. 2004 Mar;5:5	Molecular epidemiology of DFNB1 deafness in France.		121011	2860	1	2004	 Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness.											
123964	N	nonsyndromic neurosensory deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural|Syndrome	13	13q11-q12	GJB2	19659604	19665114	n	Griffith AJ et al. 2000	10903123				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			KGB	2706	Hs.591234			American journal of human genetics. 2000 Sep;67(3):745-9	Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.		121011	2854	1	2000												
123965	N	deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Simsek M et al. 2001	11748849				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Omani	Oman	KGB	2706	Hs.591234			Human mutation. 2001 Dec;18(6):545-6	Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.		121011	2855	1	2001	We conclude that  this change could not be associated with deafness since it was present in all the control and patient samples sequenced.	Control:280 healthy controls;Case:95 deaf patients										
123966	Y	GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations	OTHER	OTH	Hearing Loss, Sensorineural|Disease Progression|Recurrence	13	13q11-q12	GJB2	19659604	19665114		Janecke AR et al. 2002	12189487				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Austria	KGB	2706	Hs.591234			Human genetics. 2002 Aug;111(2):145-53	Progressive hearing loss and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.		121011	2856	1	2002												
123961		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Boerkoel, C. F.  et al. 2002	11835375				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2			CDC GDPinfo	2705	Hs.333303			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		304040	24474	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
123962	Y	nonsyndromic hearing loss	OTHER	OTH	Hearing Disorders	13	13q11-q12	GJB2	19659604	19665114		Park HJ et al. 2000	10983956				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Korea	KGB	2706	Hs.591234			The Laryngoscope. 2000 Sep;110(9):1535-8	Connexin26 mutations associated with nonsyndromic hearing loss.		121011	2852	1	2000	 The frequency of 235delC allele showed much higher in the patients (5%) than in newborns (0.5%). We rarely found 35delC mutant in both groups. These results suggest that the different types of Cx26 mutations affect autosomal recessive NSHL according to ethnic background.											
123963	Y	non-syndromic neurosensory deafness (DFNB1)	OTHER	OTH	Deafness|Hearing Loss, Conductive|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Zelante L et al. 1997	9285800				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Mediterranean Region	KGB	2706	Hs.591234			Human molecular genetics. 1997 Sep;6(9):1605-9	Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.		121011	2853	1	1997	The identification of GJB2 as the DFNB1 gene should provide a better understanding of the biology of normal and abnormal hearing, help form the basis for diagnosis and may facilitate development of strategies for treatment of this common genetic disorder.											
123958		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Da, Y.  et al. 2000	11024208				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2	Chinese		CDC GDPinfo	2705	Hs.333303			Zhonghua yi xue yi chuan xue za zhi. 2000 Oct;17(5):316-8	A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.		304040	16918	2	2000	 This mutation has not been reported previously. A proportion of CMTX patients may exist in the group of CMT1 patients in China.	Control:50 normal controls;Case:6/10 6 Chinese unrelated CMT1 patients without duplication and 10 Chinese unrelated CMT2 patients										
123959	N	neuropathy, Charcot-Marie-Tooth	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Bergmann, C.  et al. 2001	11295246			promoter	Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2	German	Germany	CDC GDPinfo	2705	Hs.333303			Brain research  Molecular brain research. 2001 Mar;88(2-Jan):183-5	A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.		304040	16919	2	2001	These divergent results are important for genetic counselling and require careful consideration of ethnic backgrounds and of diagnostic and experimental pitfalls.	Case Charcot-Marie-Tooth patients:Germany;Control healthy control individuals (not otherwise specified in abstract)										
123960		neuropathy, Charcot-Marie-Tooth	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Takashima, H.  et al. 2001	11545686				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2			CDC GDPinfo	2705	Hs.333303			Genetics in medicine. 2001 Sep-Oct;3(5):335-42	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.		304040	21516	2	2001	 DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases.	Cohort 168 patients with Charcot-Marie-Tooth neuropathy 										
123954	Y	Charcot-Marie-Tooth disease	OTHER	OTH	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Lin C et al. 1999	10587015				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2			KGB	2705	Hs.333303			The Tohoku journal of experimental medicine. 1999 Jul;188(3):239-44	Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.		304040	2848	1	1999	Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.											
123955	Y	X-linked Charcot-Marie tooth disease	OTHER	OTH	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Tan CC et al. 1996	8829637				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2		Canada	KGB	2705	Hs.333303			Human mutation. 1996 ;7(2):167-71	Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.		304040	2849	1	1996	This work supports the findings that mutations in Connexin 32 (GBJ1) are involved in CMTX.											
123956	Y	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Luo W et al. 2002	12362307				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2	Chinese		KGB	2705	Hs.333303			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):367-9	A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing		304040	2850	1	2002	 This mutation has not been reported previously. Central nervous system can be affected in CMT patients.											
123951		hypertension; lung cancer; abdominal aortic aneurysm	CANCER	CAN	Myocardial Infarction|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Lanfear, D. E.  et al. 2004	15234427				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2	African American, European Americans	United States	CDC GDPinfo	2701	Hs.296310			Journal of the American College of Cardiology. 2004 Jul;44(1):165-7	Genotypes associated with myocardial infarction risk are more common in African Americans than in European Americans.		121012	16917	2	2004	 We found higher frequencies of disease-associated genotypes in AA than in EA. Our results also show that more AA than EA carry multiple risk-associated genotypes. Future studies need to assess whether such genetic profiles predict adverse outcomes in U.S. populations and contribute to racial disparities in CVD burden.	Control;Case:95/95 healthy African Americans (n=95) and 95 healthy European Americans (n=95)										
123953	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	1	1q21.1	GJA5	145694955	145712108		Firouzi, M.  et al. 2004	15297374				Gap junction protein, alpha 5, 40kDa (connexin 40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005266.4			CDC GDPinfo	2702	Hs.447968			Circulation research. 2004 Aug;95(4):e29-33	Association of Human Connexin40 Gene Polymorphisms With Atrial Vulnerability as a Risk Factor for Idiopathic Atrial Fibrillation		121013	10829	2	2004	This study provides strong evidence linking Cx40 polymorphisms to enhanced atrial vulnerability and increased risk of AF.	Control:253:controls;Case:30 subjects without structural heart disease, of whom 14 had documented sporadic paroxysmal atrial fibrillation (AF) and 16 had no AF history										
123948		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1p35.1	GJA4	35031185	35033935		Yeh, H. I.  et al. 2001	11744143				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2		Taiwan	CDC GDPinfo	2701	Hs.296310			International journal of cardiology. 2001 Dec;81(3-Feb):251-5	Connexin37 gene polymorphism and coronary artery disease in Taiwan.		121012	10826	2	2001	 The observation indicates that the polymorphism in the connexin37 gene potentially plays a role in the manifestation of coronary atherosclerosis in Taiwan.	Control:102 controls (60+/-11 years; male/female, 70/32);Case:177 subjects with coronary artery disease (age, 61+/-11:years; male/female, 120/57)										
123949		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1p35.1	GJA4	35031185	35033935		Yamada, Y.  et al. 2002	12477941				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2			CDC GDPinfo	2701	Hs.296310			The New England journal of medicine. 2002 Dec;347(24):1916-23	Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.		121012	10827	2	2002	 Determination of the genotypes of the connexin 37, plasminogen-activator inhibitor type 1, and stromelysin-1 genes may prove reliable in predicting the genetic risk of myocardial infarction and might thus contribute to the primary prevention of this condition.	Control:2242 unrelated Japanese controls (1306 men and 936:women);Case:2819 unrelated Japanese patients with myocardial infarction (2003 men and 816 women)										
123950	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1p35.1	GJA4	35031185	35033935		Listi, F.  et al. 2005	15982495	C1019T			Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2		Sicily	CDC GDPinfo	2701	Hs.296310			International journal of cardiology. 2005 Jul;102(2):269-71	Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a studyin patients from Sicily.		121012	10828	2	2005												
123945		hypoplastic left heart syndrome	DEVELOPMENTAL	DEV	Hypoplastic Left Heart Syndrome	6	6q21-q23.2	GJA1	121798443	121812572		Dasgupta, C.  et al. 2001	11470490				Gap junction protein, alpha 1, 43kDa (connexin 43)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000165.2			CDC GDPinfo	2697	Hs.74471			Mutation research. 2001 Aug;479(2-Jan):173-86	Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)		121014	16915	2	2001	Results from in vitro phosphorylation indicate that the absence of arginines 362 and 376 completely abolishes phosphorylation in the connexin43 channel regulation domain suggesting a possible mechanism for the pathologies associated with HLHS.	Case:14 heart transplant recipients;Control:46:controls										
123946		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	6	6q21-q23.2	GJA1	121798443	121812572		Chen, P.  et al. 2005	15978203				Gap junction protein, alpha 1, 43kDa (connexin 43)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000165.2			CDC GDPinfo	2697	Hs.74471			Chinese medical journal. 2005 Jun;118(12):971-6	Mutations of connexin43 in fetuses with congenital heart malformations.		121014	16916	2	2005	 Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.											
123947	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Hirashiki A 2003	14563588	1019C3T (Pro319Ser)			Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2	Japanese high risk men	Japan	KGB	2701	Hs.296310			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		121012	2847	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
123941	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	GIF	59353321	59369550	n	Adra 1999	10450859	D11S1335-XXX			Gastric intrinsic factor (vitamin B synthesis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005142.2			KCB	2694	Hs.110014			Clinical genetics. 1999 Jun;55(6):431-7			609342	2843	1	1999												
123942		congenital intrinsic factor deficiency.	OTHER	OTH	Anemia, Pernicious	11	11q13	GIF	59353321	59369550		Gordon MM 2004	14695536				Gastric intrinsic factor (vitamin B synthesis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005142.2			KGB	2694	Hs.110014			Human mutation. 2004 Jan;23(1):85-91	A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.		609342	2844	1	2004												
123943		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.3	GIPR	50863341	50877557		Kubota A et al. 1996	8922354				gastric inhibitory polypeptide receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000164.2	Japanese	Japan	KGB	2696	Hs.251412			Diabetes. 1996 Dec;45(12):1701-5	GIPR		137241	2845	1	1996												
123944	Y	non-syndromic deafness	OTHER	OTH	Deafness|Syndrome	6	6q21-q23.2	GJA1	121798443	121812572		Liu XZ et al. 2001	11741837	Leu-->Phe substitution, codon 11;  Val-->Ala transversion, codon 24.			Gap junction protein, alpha 1, 43kDa (connexin 43)				KGB	2697	Hs.74471			Human molecular genetics. 2001 Dec;10(25):2945-51	Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.		121014	2846	1	2001	To our knowledge this is the first alpha connexin gene to be associated with non-syndromic deafness. Cx43 must also play a critical role in the physiology of hearing, presumably by participating in the recycling of potassium to the cochlear endolymph.											
123937	N	obesity	DEVELOPMENTAL	DEV	Obesity|Body Weight	3	3q26.31	GHSR	173645644	173648897		Wang, H. J.  et al. 2004	14715843				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1			CDC GDPinfo	2693	Hs.248115			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):157-62	Ghrelin receptor gene: identification of severalsequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature		601898	16912	2	2004	In conclusion, we did not obtain conclusive evidence for an involvement of the ghrelin receptor gene in body weight regulation or SNS in our study groups.	Case:184 extremely obese children and adolescents;Control:184 healthy underweight students										
123938		ghrelin receptor	NORMALVARIATION	NV		3	3q26.31	GHSR	173645644	173648897		Vartiainen, J.  et al. 2004	15080774				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1			CDC GDPinfo	2693	Hs.248115			European journal of endocrinology. 2004 Apr;150(4):457-63	Sequencing analysis of the ghrelin receptor (growth hormone secretagogue receptor type 1a) gene.		601898	16913	2	2004	 This study was the first genomic screening of the GHS-R1a gene in a population. It suggests that genetic variations in the GHS-R1a gene are not the main regulators of IGF-I levels. However, the variants may be associated with IGFBP-1 concentrations and insulin metabolism.	Cohort 86/86 individuals with low (n=96) and high (n=96) IGF-I levels from OPERA (Oulu Project Elucidating Risk of Atherosclerosis) 										
123939		anorexia nervosa; bulimia	PSYCH	PSY	Panic Disorder|Eating Disorders|Bulimia Nervosa	3	3q26.31	GHSR	173645644	173648897			16362631				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1	Japanese		CDC GDPinfo	2693	Hs.248115			J Neural Transm. 2005	Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population		601898	21515	2	2005												
123934		mammographic measurments	OTHER	OTH	Breast Neoplasms	7	7p14	GHRHR	30970160	30985668		Mulhall, C.  et al. 2005	16284391				Growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2			CDC GDPinfo	2692	Hs.767			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2648-54	Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.		139191	21514	2	2005	 We have found associations between mammographic density and two SNPs in the pituitary growth hormone gene, one of them also associated with serum growth hormone levels. These findings suggest that the GH1 gene may also influence breast cancer risk.											
123935		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p14	GHRHR	30970160	30985668			16214911				Growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2		Europe	CDC GDPinfo	2692	Hs.767			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		139191	24473	2	2005												
123936	N	short normal stature.	DEVELOPMENTAL	DEV	Obesity|Body Weight	3	3q26.31	GHSR	173645644	173648897		Wang HJ 2004	14715843				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1			KGB	2693	Hs.248115			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):157-62	Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature.		601898	2841	1	2004	In conclusion, we did not obtain conclusive evidence for an involvement of the ghrelin receptor gene in body weight regulation or SNS in our study groups.	Case:184 extremely obese children and adolescents;Control:184 healthy underweight students										
123931	Y	mandibular height	OTHER	OTH		5	5p13-p12	GHR	42459782	42757683		Zhou, J.  et al. 2005	16246940				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2	Chinese		CDC GDPinfo	2690	Hs.125180			Journal of dental research. 2005 Nov;84(11):1052-6	The Growth Hormone Receptor Gene is Associated with Mandibular Height in a Chinese Population.		600946	16902	2	2005												
123932		breast cancer	CANCER	CAN	Breast Neoplasms	20	20q11.2	GHRH	35312903	35323652			16214911				Growth hormone releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021081.3		Europe	CDC GDPinfo	2691	Hs.37023			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		139190	21513	2	2005												
123933	Y	elevated response to GHRH by pituitary somatotrophinomas	OTHER	OTH	Pituitary Neoplasms|Acromegaly	7	7p14	GHRHR	30970160	30985668		Adams EF et al. 2000	10944436				growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2			KGB	2692	Hs.767			Biochemical and biophysical research communications. 2000 Aug;275(1):33-6	A polymorphism in the growth hormone (GH)-releasing hormone (GHRH) receptor gene is associated with elevated response to GHRH by human pituitary somatotrophinomas in vitro.		139191	2840	1	2000												
123926		metabolic syndrome	METABOLIC	MET		5	5p13-p12	GHR	42459782	42757683		Zhou, J.  et al. 2004	15061875				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2	Chinese		CDC GDPinfo	2690	Hs.125180			Zhonghua kou qiang yi xue za zhi. 2004 Mar;39(2):97-9	[Single nucleotide polymorphisms of growth hormone receptor gene in Chinese Han ethnic population]		600946	10815	2	2004	 It is suggested that the SNP of GHR are unevenly distributed and different in different ethnic populations.	Cohort 106 unrelated healthy Chinese Hans 										
123927	Y	growth hormone responsiveness	METABOLIC	MET	Turner Syndrome	5	5p13-p12	GHR	42459782	42757683		Binder, G.  et al. 2005	16291706				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDPinfo	2690	Hs.125180			The Journal of clinical endocrinology and metabolism. 2006 Feb;91(2):659-664	The d3-Growth Hormone Receptor Polymorphism is Associated with Increased Responsiveness to GH in Turner Syndrome and Short SGA Children.		600946	10816	2	2005												
123929		growth hormone deficiency	METABOLIC	MET	Growth Disorders	5	5p13-p12	GHR	42459782	42757683			16394090				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDPinfo	2690	Hs.125180			The Journal of clinical endocrinology and metabolism. 2006	Common polymorphisms of the Growth Hormone (GH) Receptor do not correlate with the growth response to exogenous recombinant human GH in GH deficient children		600946	10818	2	2006	 The most common GHR polymorphisms, alone or in association, do not appear to affect the growth response to rhGH in GHD children.		recombinant human Growth Hormone									
123923		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q24.2	GH1	59348294	59349930			16214911				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340		Europe	CDC GDPinfo	2688	Hs.500468			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		139250	16903	2	2005												
123924		mammographic measurments	OTHER	OTH	Breast Neoplasms	17	17q24.2	GH1	59348294	59349930		Mulhall, C.  et al. 2005	16284391				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDPinfo	2688	Hs.500468			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2648-54	Pituitary growth hormone and growth hormone-releasing hormone receptor genes and associations with mammographic measures and serum growth hormone.		139250	16904	2	2005	 We have found associations between mammographic density and two SNPs in the pituitary growth hormone gene, one of them also associated with serum growth hormone levels. These findings suggest that the GH1 gene may also influence breast cancer risk.											
123925	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Birth Weight	17	17q24.2	GH2	59303103	59312955		Day, I. N.  et al. 2004	15531513				Growth hormone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR621109			CDC GDPinfo	2689	Hs.406754			The Journal of clinical endocrinology and metabolism. 2004 Nov;89(11):5569-76	Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster.		139240	24472	2	2004	Common diversity in GH-CSH correlates with low 1-yr weight and with features of the metabolic syndrome in later life. GH-CSH genotype adds substantially to, but does not account for, the associations between low body weight, at birth and in infancy, and the metabolic syndrome.	Cohort subjects aged 59-72 yr Hertfordshire, UK 	fetal growth infant growth									
123920	Y	bone mass	METABOLIC	MET	Osteoporosis|Birth Weight	17	17q24.2	GH1	59348294	59349930		Dennison, E. M.  et al. 2004	15472182				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDPinfo	2688	Hs.500468			The Journal of clinical endocrinology and metabolism. 2004 Oct;89(10):4898-903	Polymorphism in the growth hormone gene, weight in infancy, and adult bone mass.		139250	10812	2	2004	This study suggests that common diversity in the GH1 region predisposes to osteoporosis via effects on the level of GH expression. The interaction with infant weight suggests that early environment may influence the effect of GH1 genotype on bone loss.	Cohort 205/132 men (n=205) and women (n=132), aged 61-73 yr, in the Hertfordshire Cohort Study 	weight in infancy									
123921	Y	intrauterine growth	REPRODUCTION	REP		17	17q24.2	GH1	59348294	59349930		Adkins, R. M.  et al. 2005	15691369				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDPinfo	2688	Hs.500468			BMC pregnancy and childbirth [electronic resource]. 2005 Feb;5(1):2	Association between fetal growth restriction and polymorphisms at sites -1 and +3 of pituitary growth hormone: a case-control study.		139250	10813	2	2005	 There is suggestive association between fetal growth restriction and the presence of C alleles at sites -1 and +3 of the pituitary growth hormone gene.	Case:42 fetal growth restricted subjects;Control:83 normal birth weight subjects										
123922	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q24.2	GH1	59348294	59349930			16322331				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDPinfo	2688	Hs.500468			Endocrine-related cancer. 2005 Dec;12(4):917-28	Association of polymorphisms and haplotypes in the human growth hormone 1 (GH1) gene with breast cancer		139250	11593	2	2005												
123917	Y	growth hormone secretion and height	METABOLIC	MET		17	17q24.2	GH1	59348294	59349930		Hasegawa Y et al. 2000	10720078				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162			KGB	2688	Hs.500468			The Journal of clinical endocrinology and metabolism. 2000 Mar;85(3):1290-5	Identification of novel human GH-1 gene polymorphisms that are associated with growth hormone secretion and height.		139250	2839	1	2000												
123918	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	17	17q24.2	GH1	59348294	59349930		Le Marchand, L.  et al. 2002	11904318				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDPinfo	2688	Hs.500468			Journal of the National Cancer Institute. 2002 Mar;94(6):454-60	Association of a common polymorphism in the human GH1 gene with colorectal neoplasia.		139250	10810	2	2002	 The human T1663A GH1 gene polymorphism, which may confer lower levels of GH and IGF-I, appears to be associated with a decreased risk of colorectal cancer.	Case:139 colorectal adenocarcinoma patients from a sigmoidoscopy screening-based study:Hawaii;Control:202 control subjects not otherwise specified in:abstract;Case:535 patients with colorectal adenocarcinoma from a population-based study:Hawaii;Control:650 control subjects not otherwise specified in:abstract										
123919	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q24.2	GH1	59348294	59349930		Ren, Z.  et al. 2004	15241820				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340	Chinese		CDC GDPinfo	2688	Hs.500468			Cancer. 2004 Jul;101(2):251-7	Genetic polymorphisms in the human growth hormone-1 gene (GH1) and the risk of breast carcinoma.		139250	10811	2	2004	 The results of the current study suggest that genetic polymorphisms in the proximal promoter region and in the fourth intron of the GH1 gene are unrelated to breast carcinoma risk in Chinese women.	Case:1,193 Chinese women with breast carcinoma;Control:1,310 healthy women from the same community										
123913	Y	warfarin therapy, response to	METABOLIC	MET		2	2p12	GGCX	85629713	85642090		Wadelius, M.  et al. 2005	15883587				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDPinfo	2677	Hs.77719			The pharmacogenomics journal. 2005 ;5(4):262-70	Common VKORC1 and GGCX polymorphisms associated with warfarin dose.		137167	14769	2	2005	Genotype-based dose predictions may in future enable personalised drug treatment from the start of warfarin therapy.	Cohort 201 warfarin-treated patients 										
123914		warfarin sensitivity	METABOLIC	MET		2	2p12	GGCX	85629713	85642090		Loebstein, R.  et al. 2005	15900282				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDPinfo	2677	Hs.77719			Clinical pharmacology and therapeutics. 2005 May;77(5):365-72	Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9.		137167	24471	2	2005	 Variant mEH T 612 C genotypes are associated with warfarin doses of greater than 50 mg/wk beyond the effect of CYP2C9.	Cohort 100 patients undergoing therapeutic anticoagulation 										
123916	Y	colorectal neoplasia.	CANCER	CAN	Colorectal Neoplasms	17	17q24.2	GH1	59348294	59349930		Le Marchand L et al. 2002	11904318				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			KGB	2688	Hs.500468			Journal of the National Cancer Institute. 2002 Mar;94(6):454-60	Association of a common polymorphism in the human GH1 gene with colorectal neoplasia.		139250	2838	1	2002	 The human T1663A GH1 gene polymorphism, which may confer lower levels of GH and IGF-I, appears to be associated with a decreased risk of colorectal cancer.	Case:139 colorectal adenocarcinoma patients from a sigmoidoscopy screening-based study:Hawaii;Control:202 control subjects not otherwise specified in:abstract;Case:535 patients with colorectal adenocarcinoma from a population-based study:Hawaii;Control:65										
123910		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	5	5q31.1-q31.3	GFRA3	137615967	137638152		Borrego, S.  et al. 2002	12490080				GDNF family receptor alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001496.3	German	Spain	CDC GDPinfo	2676	Hs.58042			Thyroid. 2002 Nov;12(11):1017-22	Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer.		605710	24469	2	2002	Our results show that no statistical signification was found when Spanish sMTC patients were compared to controls. Taken together with the observations in the German sMTC series, the present findings suggest that GFRA1-193C > G and 537T > C could be in linkage disequilibrium with other loci responsible for the disease with a founder effect in Germany. Alternatively, the combined observations might also suggest that, if indeed the polymorphisms are functional, the effect is small.	Control:100 normal controls;Case:51 Spanish sporadic medullary thyroid carcinoma:patients										
123911	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	5	5q31.1-q31.3	GFRA3	137615967	137638152		Borrego, S.  et al. 2003	12624147				GDNF family receptor alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001496.3			CDC GDPinfo	2676	Hs.58042			Journal of medical genetics. 2003 Mar;40(3):e18	Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.		605710	24470	2	2003	Like the genes encoding the first three co-receptors of RET, no traditional germline mutations in GFRA4 were found in HSCR> Thus, non of the four co-receptor genes appear to contribute, to a significant degree, to the aetiology of HSCR, at least in the non-familial form. It is difficult to explain the lack of traditional and low penetrance sense, in the pathogenetsis of isolated and familial HSCR>	Control:115 age- and geographically-matched healthy controls;Case:72 isolated Hirshprung's disease cases southern Spain										
123912	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	20	20p13-p12	GFRA4	3587938	3592046		Borrego, S.  et al. 2003	12624147				GDNF family receptor alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022139.3			CDC GDPinfo	64096	Hs.302025			Journal of medical genetics. 2003 Mar;40(3):e18	Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.			26023	2	2003	Like the genes encoding the first three co-receptors of RET, no traditional germline mutations in GFRA4 were found in HSCR> Thus, non of the four co-receptor genes appear to contribute, to a significant degree, to the aetiology of HSCR, at least in the non-familial form. It is difficult to explain the lack of traditional and low penetrance sense, in the pathogenetsis of isolated and familial HSCR>	Control:115 age- and geographically-matched healthy controls;Case:72 isolated Hirshprung's disease cases southern Spain										
123907		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q26	GFRA1	117812942	118022966		Borrego, S.  et al. 2002	12490080				GDNF family receptor alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005264.3	German	Spain	CDC GDPinfo	2674	Hs.591913			Thyroid. 2002 Nov;12(11):1017-22	Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer.		601496	16899	2	2002	Our results show that no statistical signification was found when Spanish sMTC patients were compared to controls. Taken together with the observations in the German sMTC series, the present findings suggest that GFRA1-193C > G and 537T > C could be in linkage disequilibrium with other loci responsible for the disease with a founder effect in Germany. Alternatively, the combined observations might also suggest that, if indeed the polymorphisms are functional, the effect is small.	Control:100 normal controls;Case:51 Spanish sporadic medullary thyroid carcinoma:patients										
123908	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q26	GFRA1	117812942	118022966		Borrego, S.  et al. 2003	12624147				GDNF family receptor alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005264.3			CDC GDPinfo	2674	Hs.591913			Journal of medical genetics. 2003 Mar;40(3):e18	Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.		601496	16900	2	2003	Like the genes encoding the first three co-receptors of RET, no traditional germline mutations in GFRA4 were found in HSCR> Thus, non of the four co-receptor genes appear to contribute, to a significant degree, to the aetiology of HSCR, at least in the non-familial form. It is difficult to explain the lack of traditional and low penetrance sense, in the pathogenetsis of isolated and familial HSCR>	Control:115 age- and geographically-matched healthy controls;Case:72 isolated Hirshprung's disease cases southern Spain										
123909		hepatitis C; liver cancer	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	10	10q26	GFRA1	117812942	118022966		Kato, N.  et al. 2005	16175604				GDNF family receptor alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005264.3		Japan	CDC GDPinfo	2674	Hs.591913			Hepatology (Baltimore, Md). 2005 Oct;42(4):846-53	Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C.		601496	24468	2	2005												
123904	Y	diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Diabetes Mellitus, Type 2	2	2p13	GFPT1	69405910	69467829		Elbein, S. C.  et al. 2004	15308130				Glutamine-fructose-6-phosphate transaminase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002056.1	African American		CDC GDPinfo	2673	Hs.580300			Molecular genetics and metabolism. 2004 Aug;82(4):321-8	Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy.		138292	16896	2	2004	Variants in the GFPT1 gene show suggestive evidence of an association with diabetic nephropathy among African-American individuals, and increased GFPT1 gene expression may characterize Caucasian subjects with diabetic nephropathy. Both findings need to be confirmed in other populations.	Cohort Caucasian and African-American populations 										
123905	Y	insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity	2	2p13	GFPT1	69405910	69467829		Weigert, C.  et al. 2004	15613432				Glutamine-fructose-6-phosphate transaminase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002056.1			CDC GDPinfo	2673	Hs.580300			The Journal of clinical endocrinology and metabolism. 2005 Mar;90(3):1639-43	The -913 G/A glutamine:fructose-6-phosphateaminotransferase gene polymorphism is associated with measures of obesity and intramyocellular lipid content in nondiabetic subjects		138292	16897	2	2004	In conclusion, we identified two polymorphisms in the 5'-flanking region of GFAT, of which the -913 SNP seems to alter the risk for obesity and IMCL accumulation in male subjects.	Cohort 412 nondiabetic, metabolically characterized Caucasians 	hyperinsulinemic-euglycemic clamp									
123906		diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q34-q35	GFPT2	179660305	179712921		Zhang, H.  et al. 2004	14764791				Glutamine-fructose-6-phosphate transaminase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005110.1			CDC GDPinfo	9945	Hs.30332			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):748-55	Common variants in glutamine:fructose-6-phosphateamidotransferase 2 (GFPT2) gene are associated with type 2 diabetes, diabetic nephropathy, and increased GFPT2 mRNA levels.		603865	16898	2	2004	We propose that the 3' UTR variant results in increased GFPT2 mRNA levels with resultant increased hexosamine flux. The I471V variant may contribute to altered protein function or may simply be in linkage disequilibrium with the 3' UTR.	Cohort Caucasian and African-American individuals 										
123901	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p13.1-p12	GDNF	37851509	37875539		Michelato, A.  et al. 2004	15003293	3' UTR (AGG)n		3' UTR	Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2		Italy	CDC GDPinfo	2668	Hs.248114			Neuroscience letters. 2004 Mar;357(3):235-7	3' UTR (AGG)n repeat of glial cell line-derived neurotrophic factor (GDNF) gene polymorphism in schizophrenia.		600837	10809	2	2004	These results support that the (AGG)(n) >/=15 alleles could be protective factors against schizophrenia and thus they suggest a possible involvement of GDNF gene in the genetic liability to illness.	Case schizophrenic patients:Italy;Control:controls										
123902	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p13.1-p12	GDNF	37851509	37875539		Lee, K.  et al. 2001	11600185				Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2			CDC GDPinfo	2668	Hs.248114			Psychiatry research. 2001 Oct;104(1):7-Nov	Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: polymorphism screening andassociation analysis		600837	16894	2	2001	Overall, we obtained no solid evidence for the involvement of the GDNF gene in the pathogenesis of schizophrenia, although further studies in larger numbers of subjects will be required to conclude whether the trinucleotide repeat polymorphism is associated with the development of schizophrenia.	Control:98 control subjects;Case:99 schizophrenic patients:Japan										
123903	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies	2	2p13	GFPT1	69405910	69467829		Ng, D. P.  et al. 2004	14988277				Glutamine-fructose-6-phosphate transaminase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002056.1			CDC GDPinfo	2673	Hs.580300			Diabetes. 2004 Mar;53(3):865-9	Scrutiny of the glutamine-fructose-6-phosphate transaminase 1 (GFPT1) locus reveals conserved haplotype block structure not associated with diabetic nephropathy.		138292	16895	2	2004	Genetic variation in GFPT1 is thus unlikely to have a major impact on susceptibility to diabetic nephropathy.	Control:114 type 2 diabetic subjects with normoalbuminuria despite >15 years of diabetes;Case:202 type 2 diabetic subjects with diabetic nephropathy;Control:289 type 1 diabetic subjects with normoalbuminuria despite >15 years of diabetes;Case:324 type 1 diabetic subjects with diabetic nephropathy										
123898		premature ovarian failure; primary amenorrhea; secondary amenorrhea	REPRODUCTION	REP	Ovarian Failure, Premature	5	5q31.1	GDF9	132224776	132228376		Dixit, H.  et al. 2005	16278619				Growth differentiation factor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005260.3	Indian		CDC GDPinfo	2661	Hs.25022			Menopause (New York, NY). 2005 Nov-Dec;12(6):749-54	Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure.		601918	16893	2	2005	 We report two rare missense mutations, c.199A>C and c.646G>A, which are associated with ovarian failure. The presence of the c.447>T mutation might indicate a higher risk for POF. Haplotype C-T was significantly associated with ovarian failure, whereas the C-C haplotype was representative of the control group.											
123899	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p13.1-p12	GDNF	37851509	37875539		Lee K et al. 2001	11600185				Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2			KGB	2668	Hs.248114			Psychiatry research. 2001 Oct;104(1):7-Nov	Glial cell line-derived neurotrophic factor (GDNF) gene and schizophrenia: polymorphism screening and association analysis.		600837	2836	1	2001	Overall, we obtained no solid evidence for the involvement of the GDNF gene in the pathogenesis of schizophrenia, although further studies in larger numbers of subjects will be required to conclude whether the trinucleotide repeat polymorphism is associated with the development of schizophrenia.	Control:98 control subjects;Case:99 schizophrenic patients:Japan										
123900	Y	Schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p13.1-p12	GDNF	37851509	37875539		Michelato A 2004	15003293				Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2	Italian	Italy	KGB	2668	Hs.248114			Neuroscience letters. 2004 Mar;357(3):235-7	3' UTR (AGG)n repeat of glial cell line-derived neurotrophic factor (GDNF) gene polymorphism in schizophrenia.		600837	2837	1	2004	These results support that the (AGG)(n) >/=15 alleles could be protective factors against schizophrenia and thus they suggest a possible involvement of GDNF gene in the genetic liability to illness.	Case schizophrenic patients:Italy;Control:controls										
123895		muscle testing; sarcopenia	NORMALVARIATION	NV	Muscle Weakness|Muscular Atrophy	2	2q32.2	GDF8	190628670	190635700		Corsi, A. M.  et al. 2002	12165013				Growth differentiation factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005259.1	Italian	Italy	CDC GDPinfo	2660	Hs.41565			Journal of the American Geriatrics Society. 2002 Aug;50(8):1463	Myostatin polymorphisms and age-related sarcopenia in the Italian population		601788	10807	2	2002	Our findings confirm thos reported by Seibert et al. and suggest that the genotype K153R may be associated with accelerated sarcopenia	Cohort 450 subjects from the original cohort of 1,306 participants who donated blood specimen 										
123896		muscle testing	AGING	AGE	Muscular Atrophy|Genetic Predisposition to Disease	2	2q32.2	GDF8	190628670	190635700		Seibert, M. J.  et al. 2001	11555072				Growth differentiation factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005259.1		Baltimore	CDC GDPinfo	2660	Hs.41565			Journal of the American Geriatrics Society. 2001 Aug;49(8):1093-6	Polymorphic variation in the human myostatin (GDF-8) gene and association with strength measures in the Women's Health and Aging Study II cohort		601788	16892	2	2001	 Recognizing that small sample size in the study of genes of modest effect are unlikely to yield significant differences, these data suggest an association of the R153 allele with lower strength in high-functioning older women, which should be studied further in a larger cohort.	Cohort 286 women, age 70-79 from the Women's Health and Aging Study II population 										
123897		muscle testing	NORMALVARIATION	NV		2	2q32.2	GDF8	190628670	190635700		Thomis, M. A.  et al. 2004	15083369				Growth differentiation factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005259.1			CDC GDPinfo	2660	Hs.41565			European journal of applied physiology. 2004 Jul;92(3):267-74	Exploration of myostatin polymorphisms and the angiotensin-converting enzyme insertion/deletion genotype in responses of human muscle to strength training		601788	21510	2	2004	This study therefore does not support the hypothesis that an increased muscle fiber hypertrophic effect of strength training is present in D-allele carriers.	Cohort 57 males [22.4 (3.7) years] who participated in a 10-week, high-resistance training program for the elbow flexors 										
123892		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Vocal Cord Paralysis|Respiratory Paralysis|Charcot-Marie-Tooth Disease|	8	8q21.11	GDAP1	75425172	75441890		Stojkovic T 2004	15019704				Ganglioside-induced differentiation-associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018972.2	French	France	KGB	54332	Hs.168950			Neuromuscular disorders. 2004 Apr;14(4):261-4	Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.		606598	6771	1	2004												
123893		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyps|Carcinoma|Colorectal Neoplasms|Neoplasm Metastasis	19	19p13.1-13.2	PLAB	18360279	18360986		Brown, D. A.  et al. 2003	12855642				Growth differentiation factor 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ883534			CDC GDPinfo	9518	Hs.515258			Clinical cancer research. 2003 Jul;9(7):2642-50	MIC-1 serum level and genotype: associations withprogress and prognosis of colorectal carcinoma.		605312	18937	2	2003	 This study identifies a strong association between MIC-1 serum levels and neoplastic progression within the large bowel. We suggest that the measurement of serum MIC-1 levels and determination of MIC-1 genotype may have clinical use in the management of patients with CRC.	Cohort 193/224 patients having adenomatous polyps (n=193) and a separate cohort of patients (n=224) 										
123894		strength measures	AGING	AGE	Muscular Atrophy|Genetic Predisposition to Disease	2	2q32.2	GDF8	190628670	190635700		Seibert MJ et al. 2001	11555072				Growth differentiation factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005259.1		Baltimore	KGB	2660	Hs.41565			Journal of the American Geriatrics Society. 2001 Aug;49(8):1093-6	Polymorphic variation in the human myostatin (GDF-8) gene and association with strength measures in the Women's Health and Aging Study II cohort.		601788	2835	1	2001	 Recognizing that small sample size in the study of genes of modest effect are unlikely to yield significant differences, these data suggest an association of the R153 allele with lower strength in high-functioning older women, which should be studied further in a larger cohort.	Cohort 286 women, age 70-79 from the Women's Health and Aging Study II population										
123889		Charcot-Marie-Tooth neuropathy	OTHER	OTH	Charcot-Marie-Tooth Disease|Nerve Degeneration	8	8q21.11	GDAP1	75425172	75441890		Senderek J et al. 2003	12566285				Ganglioside-induced differentiation-associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018972.2		Turkey|Germany	KGB	54332	Hs.168950			Brain. 2003 Mar;126(Pt 3):642-9	Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.		606598	6768	1	2003												
123890		autosomal recessive Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Demyelinating Diseases|Charcot-Marie-Tooth Disease|Genetic Predisposition to Disease|	8	8q21.11	GDAP1	75425172	75441890		Ammar N 2003	14561495				Ganglioside-induced differentiation-associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018972.2			KGB	54332	Hs.168950			Neuromuscular disorders. 2003 Nov;13(9):720-8	Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.		606598	6769	1	2003												
123891		vocal cord palsy	OTHER	OTH	Vocal Cord Paralysis|Charcot-Marie-Tooth Disease	8	8q21.11	GDAP1	75425172	75441890		Sevilla T 2003	12821518				Ganglioside-induced differentiation-associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018972.2			KGB	54332	Hs.168950			Brain. 2003 Sep;126(Pt 9):2023-33	Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.		606598	6770	1	2003												
123885	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1p22.1	GCLM	94125177	94147600		Nakamura, S.  et al. 2002	12081989				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDPinfo	2730	Hs.315562			Circulation. 2002 Jun;105(25):2968-73	Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction.		601176	10804	2	2002	 These findings suggest that the -588T polymorphism of the GCLM gene may suppress GCLM gene induction in response to oxidants and that it is a genetic risk factor for MI.	Control:428 control subjects (as defined by angiography);Case:429 patients with myocardial infarction Kumanmoto Prefecture, Japan										
123886	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p22.1	GCLM	94125177	94147600		Nakamura, S. I.  et al. 2003	12975258				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2		Japan	CDC GDPinfo	2730	Hs.315562			Circulation. 2003 Sep;108(12):1425-7	Polymorphism in glutamate-cysteine ligase modifier subunit gene is associated with impairment of nitric oxide-mediated coronary vasomotor function.		601176	10805	2	2003	 The -588T polymorphism of the GCLM gene causes a decrease in endothelial NO bioactivity, leading to impairment of endothelium-dependent vasomotor function in large and resistance coronary arteries. The GCL-GSH-NO axis may play a role in the defense system against coronary artery disease.	Cohort 157 consecutive subjects who had normal coronary angiograms 										
123887	Y	congenital cataracts	VISION	VIS	Cataract	6	6p24	GCNT2	10629638	10737587		Yu LC et al. 2003	12424189				Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145649.3		Taiwan	KGB	2651	Hs.519884			Blood. 2003 Mar;101(6):2081-8	The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.		600429	2833	1	2003												
123882	N	obesity	METABOLIC	MET	Obesity	2	2p23	GCKR	27573209	27600054		Veiga-da-Cunha, M.  et al. 2003	12739015				Glucokinase (hexokinase 4) regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001486.2	French	France	CDC GDPinfo	2646	Hs.89771			Diabetologia. 2003 May;46(5):704-11	Mutations in the glucokinase regulatory protein gene in 2p23 in obese French caucasians.		600842	16891	2	2003	Mutations that affect the properties of GKRP are found in the French population, but they do not seem to account for the linkage between the 2p23 locus and quantitative markers of obesity.	Control:384 individuals of normal weight;Case:720 unrelated obese individuals:France										
123883		decreased glutathione production.	OTHER	OTH		6	6p12	GCLC	53470098	53517790		Hamilton D 2003	12663448				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			KGB	2729	Hs.271264			Blood. 2003 Jul;102(2):725-30	A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.		606857	2863	1	2003												
123884		myocardial infarct; coronary endothelial vasomotor dysfunction	CARDIOVASCULAR	CARD	Autonomic Nervous System Diseases|Cardiovascular Diseases|Myocardial Infarction	6	6p12	GCLC	53470098	53517790		Koide, S.  et al. 2003	12598062				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDPinfo	2729	Hs.271264			Journal of the American College of Cardiology. 2003 Feb;41(4):539-45	Association of polymorphism in glutamate-cysteine ligase catalytic subunit gene with coronary vasomotor dysfunction and myocardial infarction.		606857	10803	2	2003	 The -129T polymorphism of the GCLC gene may suppress the GCLC gene induction response to an oxidant, and it is implicated in coronary endothelial vasomotor dysfunction and MI.	Control:179 male controls;Case:255 male patients with myocardial infact:Cohort:62 male subjects										
123879		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Glucose Intolerance	7	7p15.3-p15.1	GCK	44150394	44195563		Weng, J.  et al. 2002	11772903				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Swedish	Sweden	CDC GDPinfo	2645	Hs.1270			Diabetes care. 2002 Jan;25(1):68-71	Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.		138079	17507	2	2002	 MODY mutations but not autoimmunity contribute to GDM in Swedish women with a family history of diabetes and increase the risk of subsequent diabetes.	Case:66 Swedish women with gestational diabetes mellitus:Sweden;Control:82 type 2 diabetic patients;Control:86 healthy controls										
123880		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Boutin, P.  et al. 2001	11440371				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDPinfo	2645	Hs.1270			Diabetologia. 2001 Jun;44(6):775-8	Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are thetechniques of DHPLC and direct sequencing used in combination?		138079	19769	2	2001	Our results suggest that combining denaturing high-performance liquid chromatography and direct sequencing is a good approach for the routine detection of HNF-1alpha and GCK mutations in MODY families. Denaturing high-performance liquid chromatography appears to be a powerful tool in genetic testing and the method could be applied to the molecular diagnosis of other human genetic diseases.											
123881		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	7	7p15.3-p15.1	GCK	44150394	44195563		Forsyth, L.  et al. 2005	15918042				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDPinfo	2645	Hs.1270			Journal of molecular medicine (Berlin, Germany). 2005 Aug;83(8):610-8	Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly		138079	21509	2	2005	We identified the first G6PC1 promoter polymorphism, which lowers expression, potentially increasing risk of hypoglycaemia and hence risk of sudden and unexpected death.	Case:126 infants who died suddenly and unexpectedly (78 SIDS, 48 non-SIDS);Control:70 healthy, living infants										
123875		diabetes, post-renal transplant; post-renal transplant diabetes	METABOLIC	MET	Diabetes Mellitus|Postoperative Complications	7	7p15.3-p15.1	GCK	44150394	44195563		Nam, J. H.  et al. 2000	11106831				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDPinfo	2645	Hs.1270			Diabetes research and clinical practice. 2000 Dec;50(3):169-76	Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.		138079	16887	2	2000	We found a GCK mutation on the exon in subjects with PTDM and we speculate that this mutation may be one of the possible contributing factors of PTDM, although variations of the GCK gene are not common causes of PTDM.	Control:45 normal controls;Case:58 post-renal transplantation allograft recipients with diabetes										
123876	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Genetic Predisposition to Disease	7	7p15.3-p15.1	GCK	44150394	44195563		Han, H.  et al. 1999	11263168				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Chinese		CDC GDPinfo	2645	Hs.1270			Zhonghua fu chan ke za zhi. 1999 Jan;34(1):23-6	[Association of glucokinase gene with gestational diabetes mellitus in Chinese]		138079	16888	2	1999	Our results suggest that GCK gene was associated with Chinese GDM, and haplotype of GCK1/GCK2 B/2 was a protective factor for GDM.	Case:40 unrelated gestational diabetics;Control:43 unspecified controls										
123878		diabetes, type 2	METABOLIC	MET		7	7p15.3-p15.1	GCK	44150394	44195563			16378108				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Chinese		CDC GDPinfo	2645	Hs.1270			Beijing da xue xue bao Yi xue ban. 2005 Dec;37(6):591-4	[Contribution of MODY2 gene to the pathogenesis of Chinese early onset familial type 2 diabetes.]		138079	16890	2	2005	 Our research suggested in Chinese population the prevalences of MODY2 was less than 1% in early onset familial type 2 diabetic patients, the IVS9+8 C>T polymorphism at MODY2 gene, intron 9 or nearby genes was associated with early onset familial type 2 diabetes .											
123872	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7p15.3-p15.1	GCK	44150394	44195563		Marz, W.  et al. 2004	15173029	G(-30)A		promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDPinfo	2645	Hs.1270			Circulation. 2004 Jun;109(23):2844-9	G(-30)A polymorphism in the pancreatic promoter of the glucokinase gene associated with angiographic coronary artery disease and type 2 diabetes mellitus.		138079	10799	2	2004	 The A allele of the pancreatic promoter of glucokinase increases the risk of CAD in individuals with and without T2DM. Furthermore, at least in CAD, it is associated with an augmented prevalence of T2DM.	Cohort 2,567 patients with coronary artery disease 										
123873		glucose; birth weight	METABOLIC	MET	Glucose Intolerance|Birth Weight	7	7p15.3-p15.1	GCK	44150394	44195563		Weedon, M. N.  et al. 2005	15677518			promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		England|Sweden	CDC GDPinfo	2645	Hs.1270			Diabetes. 2005 Feb;54(2):576-81	Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene		138079	10800	2	2005	This study establishes that common genetic variation, in addition to rare mutations and environmental factors, can affect both FPG and birth weight.	Cohort 1,763 Caucasian normoglycemic adult subjects UK 										
123874		glucose tolerance; metabolic syndrome; hyperglycemia	METABOLIC	MET	Hyperglycemia|Metabolic Syndrome X	7	7p15.3-p15.1	GCK	44150394	44195563		Rose, C. S.  et al. 2005	16186409	G(-30)A		promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDPinfo	2645	Hs.1270			Diabetes. 2005 Oct;54(10):3026-31	A -30G>A polymorphism of the beta-cell-specific glucokinase promoter associates with hyperglycemia in the general population of whites.		138079	10802	2	2005												
123868		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Elbein SC 1994	8163053				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Caucasian		Y Wang	2645	Hs.1270			Diabetologia. 1994 Feb;37(2):182-7	Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus.		138079	2831	1	1994												
123869	Y	reduced beta-cell function	OTHER	OTH		7	7p15.3-p15.1	GCK	44150394	44195563		Stone LM et al. 1996	8603762			promoter	glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese		KGB	2645	Hs.1270			Diabetes. 1996 Apr;45(4):422-8	A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men.		138079	2832	1	1996	We conclude that  the -30 beta-cell GCK gene promoter variant is associated with reduced beta-cell function in middle-aged Japanese-American men and may contribute to the high risk of abnormal glucose tolerance in this population.											
123871		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Fetal Growth Retardation|Hypoglycemia|Sudden Infant Death	7	7p15.3-p15.1	GCK	44150394	44195563		Burchell, A.  et al. 2002	12515438				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		Great Britain	CDC GDPinfo	2645	Hs.1270			Child:  care, health and development. 2002 Sep;28 Suppl 1:37-9	Polymorphisms in genes involved in glucose metabolism in cases of Sudden Infant Death Syndrome		138079	10798	2	2002	 We have found rare novel polymorphisms in the glucokinase gene in the infant samples. In contrast in these samples, we have not found any examples of the previously reported mutations in the coding region of the glucokinase gene found in MODY. This clearly shows that while MODY babies are often small, MODY is not a common cause of either intra-uterine growth retardation or of SIDS.	Cohort 129 infants who were either growth retarded or appropriately grown for gestational age 										
123864		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7p15.3-p15.1	GCK	44150394	44195563		Hattersley AT 1992	1349989				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			Y Wang	2645	Hs.1270	MODY		Lancet. 1992 May;339(8805):1307-10	Linkage of type 2 diabetes to the glucokinase gene.		138079	2827	1	1992												
123865		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Kim DY 1994	7913622				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Korean		Y Wang	2645	Hs.1270			The Korean journal of internal medicine. 1994 Jan;9(1):25-31	Polymorphism of glucokinase gene in non-insulin dependent diabetes mellitus.		138079	2828	1	1994												
123866		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Laurino C 1994	7988743				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Italian	Italy	Y Wang	2645	Hs.1270	Complications		Molecular and cellular endocrinology. 1994 Sep;104(2):147-51	Linkage analysis does not support a role for glucokinase gene in the aetiology of type 2 diabetes mellitus among north western Italians.		138079	2829	1	1994	We conclude that  glucokinase polymorphism is not a major determinant of type 2 diabetes mellitus, at least in our population, but, consistent with LOD score obtained, in some pedigrees it could assume a minor role in the aetiology of this disease.											
123867		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Eto K 1993	8325443				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese	Japan	Y Wang	2645	Hs.1270			Diabetes. 1993 Aug;42(8):1133-7	Sequence variations of the glucokinase gene in Japanese subjects with NIDDM.		138079	2830	1	1993	We conclude that  the prevalence of structural mutations in the glucokinase gene responsible for NIDDM appears to be rare among Japanese patients. To our knowledge, this is the first thorough study describing the ethnic prevalence of mutations and sequence variations in the glucokinase gene in NIDDM.											
123860		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Nishi S 1994	8200206				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese	Japan	Y Wang	2645	Hs.1270			Diabetic medicine. 1994 Mar;11(2):193-7	Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects.		138079	2823	1	1994												
123861		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Shimokawa K 1994	8077376				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese	Japan	Y Wang	2645	Hs.1270			The Journal of clinical endocrinology and metabolism. 1994 Sep;79(3):883-6	Analysis of the glucokinase gene promoter in Japanese subjects with noninsulin-dependent diabetes mellitus.		138079	2824	1	1994	We conclude that  the prevalence of mutations in the promoter of the glucokinase gene responsible for NIDDM is rare among Japanese patients.											
123862		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Stoffel M 1992	1502186				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			Y Wang	2645	Hs.1270			Proceedings of the National Academy of Sciences of the United States of America. 1992 Aug;89(16):7698-702	Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.		138079	2825	1	1992												
123863		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Lotfi K 2004	9267992				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Swedish	Sweden	Y Wang	2645	Hs.1270			Diabetologia. 1997 Aug;40(8):959-62	The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus. Diabetes Incidence Study in Sweden (DISS).		138079	2826	1	2004												
123856	Y	reduced early insulin response to oral glucose	OTHER	OTH	Diabetes, Gestational	7	7p15.3-p15.1	GCK	44150394	44195563		Zaidi FK et al. 1997	9088772			promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		Great Britain	KGB	2645	Hs.1270			Diabetic medicine. 1997 Mar;14(3):228-34	Homozygosity for a common polymorphism in the islet-specific promoter of the glucokinase gene is associated with a reduced early insulin response to oral glucose in pregnant women.		138079	2819	1	1997												
123857		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Tawata M 1994	7888697				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese		Y Wang	2645	Hs.1270			Acta diabetologica. 1994 Dec;31(4):238-41	Variant forms of glucokinase gene in Japanese patients with late-onset type 2 diabetes.		138079	2820	1	1994												
123858		diabetes, type 2	METABOLIC	MET	Pregnancy in Diabetics|Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Zouali H 1993	8349034				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	French		Y Wang	2645	Hs.1270			Diabetes. 1993 Sep;42(9):1238-45	Linkage analysis and molecular scanning of glucokinase gene in NIDDM families.		138079	2821	1	1993												
123859		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Tanizawa Y 1993	8314445				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Caucasian	United States|Wales	Y Wang	2645	Hs.1270			Diabetologia. 1993 May;36(5):409-13	Two microsatellite repeat polymorphisms flanking opposite ends of the human glucokinase gene: use in haplotype analysis of Welsh Caucasians with type 2 (non-insulin-dependent) diabetes mellitus.		138079	2822	1	1993												
123852	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	7	7p15.3-p15.1	GCK	44150394	44195563		Rowe RE et al. 1995	7663523				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			KGB	2645	Hs.1270			Nature genetics. 1995 Jun;10(2):240-2	Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7.		138079	2815	1	1995												
123853		non-Type 1 diabetes mellitus	OTHER	OTH	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Wu HP et al. 1995	8745202				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		Taiwan	KGB	2645	Hs.1270			Diabetes research and clinical practice. 1995 Oct;30(1):21-6	CA-repeated microsatellite polymorphism of the glucokinase gene and its association with non-insulin-dependent diabetes mellitus in Taiwanese.		138079	2816	1	1995												
123854	N	reduced insulin secretion	OTHER	OTH	Diabetes Mellitus, Type 2|Glucose Intolerance	7	7p15.3-p15.1	GCK	44150394	44195563	n	Rissanen J et al. 1998	9653619			promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		Finland	KGB	2645	Hs.1270			Diabetes care. 1998 Jul;21(7):1194-7	Glucokinase gene islet promoter region variant (G-->A) at nucleotide -30 is not associated with reduced insulin secretion in Finns.		138079	2817	1	1998	 These results indicate that the variant (-30) of the islet promoter region of the GCK gene does not have a significant effect on insulin secretion in Finnish subjects with NGT, IGT, or NIDDM.											
123855	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Xiang K et al. 1995	7712840				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Chinese		KGB	2645	Hs.1270			Chinese medical journal. 1995 Jan;108(1):9-May	The population association of glucokinase gene with type 2 (noninsulin-dependent) diabetes mellitus in Chinese.		138079	2818	1	1995												
123848	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Takekawa K et al. 1994	7924873				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese	Japan	KGB	2645	Hs.1270			Diabetes research and clinical practice. 1994 Apr;23(3):141-6	Early-onset type 2 (non-insulin-dependent) diabetes mellitus is associated with glucokinase locus but not with adenosine deaminase locus in the Japanese population.		138079	2811	1	1994												
123849	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7p15.3-p15.1	GCK	44150394	44195563		Chiang FT et al. 1997	9324112	(-258) G-to-A			Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			KGB	2645	Hs.1270			American journal of hypertension. 1997 Sep;10(9 Pt 1):1049-52	Nucleotide(-258) G-to-A transition variant of the liver glucokinase gene is associated with essential hypertension.		138079	2812	1	1997												
123850		diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		McCarthy MI et al. 1993	8359581				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2		India	KGB	2645	Hs.1270			Diabetologia. 1993 Jul;36(7):633-41	Positive association in the absence of linkage suggests a minor role for the glucokinase gene in the pathogenesis of type 2 (non-insulin-dependent) diabetes mellitus amongst south Indians.		138079	2813	1	1993												
123851		type 2 diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Hattersley AT et al. 1993	8261750				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	caucasian		KGB	2645	Hs.1270			Diabetic medicine. 1993 Oct;10(8):694-8	Microsatellite polymorphisms at the glucokinase locus: a population association study in Caucasian type 2 diabetic subjects.		138079	2814	1	1993												
123844		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	14	14q22.1-q22.2	GCH1	54378473	54439292		Shang, H.  et al. 2005	15679701				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2			CDC GDPinfo	2643	Hs.86724			European journal of neurology. 2005 Feb;12(2):131-8	Clinical and molecular genetic evaluation of patients with primary dystonia		600225	19958	2	2005	Our study supports the notion that primary dystonia is a genetically heterogeneous disease.	Cohort 40 patients with primary dystonia 										
123845		Diabetes Mellitus	METABOLIC	MET	Diabetes, Gestational|Pregnancy in Diabetics	7	7p15.3-p15.1	GCK	44150394	44195563		Chiu KC et al. 1994	8150222				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			KGB	2645	Hs.1270			Diabetologia. 1994 Jan;37(1):104-10	Glucokinase gene in gestational diabetes mellitus: population association study and molecular scanning.		138079	2808	1	1994												
123846	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	7	7p15.3-p15.1	GCK	44150394	44195563	n	Bain SC et al. 1992	1351630				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			KGB	2645	Hs.1270			Lancet. 1992 Jul;340(8810):54-5	Lack of association between type 1 diabetes and the glucokinase gene.		138079	2809	1	1992												
123847	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	7	7p15.3-p15.1	GCK	44150394	44195563		Noda K et al. 1993	8325445				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese	Japan	KGB	2645	Hs.1270			Diabetes. 1993 Aug;42(8):1147-52	Polymorphic microsatellite repeat markers at the glucokinase gene locus are positively associated with NIDDM in Japanese.		138079	2810	1	1993												
123840	Y	body mass; adiposity	METABOLIC	MET	Insulin Resistance	17	17q25	GCGR	2320462	2330377		Siani, A.  et al. 2001	11707539	Gly40Ser			Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160			CDC GDPinfo	2642	Hs.208			Obesity research. 2001 Nov;9(11):722-6	Gly40Ser polymorphism of the glucagon receptor gene is associated with central adiposity in men.		138033	10796	2	2001	The Gly40Ser polymorphism of the GCG-R gene is associated with central adiposity independently from total body mass in men.	Cohort 985 working men (The Olivetti Heart Study) 1994 										
123842	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q25	GCGR	2320462	2330377		Deng, H.  et al. 2001	12536714				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160	Chinese		CDC GDPinfo	2642	Hs.208			Hunan yi ke da xue xue bao. 2001 Aug;26(4):291-3	[Gly40Ser mutation of glucagon receptor gene and NIDDM in Han nationality]		138033	16886	2	2001	 The mutation doesn't associate with NIDDM in Chinese, even though the mutation was reported to be associated with NIDDM in certain French and Caucasians, genetic heterogeneity of NIDDM among ethnic groups should be considered.	Control:136:controls;Case:82 non-insulin-dependent diabetes millitus Chinese Han:patients Hunan province, China										
123843	Y	broad range of clinical presentations	OTHER	OTH	Dystonia	14	14q22.1-q22.2	GCH1	54378473	54439292		Markova ED et al. 1999	10457396				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2			KGB	2643	Hs.86724			European journal of neurology. 1999 Sep;6(5):605-8	A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia.		600225	2807	1	1999												
123836		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	17	17q25	GCGR	2320462	2330377		Odawara M 1996	8931690				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR606256	Japanese	Japan	Y Wang	2642	Hs.208			Human genetics. 1996 Dec;98(6):636-9	Absence of association between the Gly40-->Ser mutation in the human glucagon receptor and Japanese patients with non-insulin-dependent diabetes mellitus or impaired glucose tolerance.		138033	2803	1	1996												
123837		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	17	17q25	GCGR	1860193	1870108		Ogata M 1996	8879960	Gly40-ser			Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160	Japanese		Y Wang	2642	Hs.208			Diabetes research and clinical practice. 1996 Jul;33(2):71-4	Absence of the Gly40-ser mutation in the glucagon receptor gene in Japanese subjects with NIDDM.		138033	2804	1	1996												
123838		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q25	GAPD	1860193	1870108		Odawara M 1996	8732726	Gly40Ser			Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160	Japanese	Japan	Y Wang	2642	Hs.208			Diabetes care. 1996 May;19(5):547	Gly40Ser substitution in the glucagon receptor is rarely involved in the pathogenesis of NIDDM in Japanese patients.		138033	2805	1	1996												
123839	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q25	GCGR	2320462	2330377		Deng H 2001	12536714	Gly40Ser			Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160	Chinese		Y Wang	2642	Hs.208			Hunan yi ke da xue xue bao. 2001 Aug;26(4):291-3	Gly40Ser mutation of glucagon receptor gene and NIDDM in Han nationality		138033	2806	1	2001	 The mutation doesn't associate with NIDDM in Chinese, even though the mutation was reported to be associated with NIDDM in certain French and Caucasians, genetic heterogeneity of NIDDM among ethnic groups should be considered.	Control:136:controls;Case:82 non-insulin-dependent diabetes millitus Chinese Han:patients Hunan province, China										
123832	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	17	17q25	GCGR	2320462	2330377	n	Huang X et al. 1995	8690179				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160		Finland|France	KGB	2642	Hs.208			Diabetologia. 1995 Oct;38(10):1246-8	Lack of association between the Gly40Ser polymorphism in the glucagon receptor gene and NIDDM in Finland.		138033	2799	1	1995												
123833		diabetes, type 2	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hyperglycemia	17	17q25	GCGR	2320462	2330377		Gough SC et al. 1995	8541847				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR606256		Great Britain	KGB	2642	Hs.208			Human molecular genetics. 1995 Sep;4(9):1609-12	Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?		138033	2800	1	1995												
123834	N	diabetes, type 2	OTHER	OTH	Diabetes Mellitus, Type 2	17	17q25	GCGR	2320462	2330377	n	Fujisawa T et al. 1995	7589886				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR606256		Japan|France|Italy	KGB	2642	Hs.208			Diabetologia. 1995 Aug;38(8):983-5	A mutation in the glucagon receptor gene (Gly40Ser): heterogeneity in the association with diabetes mellitus.		138033	2801	1	1995												
123835	Y	central adiposity	METABOLIC	MET	Insulin Resistance	17	17q25	GCGR	2320462	2330377		Siani A et al. 2001	11707539				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160			KGB	2642	Hs.208			Obesity research. 2001 Nov;9(11):722-6	Gly40Ser polymorphism of the glucagon receptor gene is associated with central adiposity in men.		138033	2802	1	2001	The Gly40Ser polymorphism of the GCG-R gene is associated with central adiposity independently from total body mass in men.	Cohort 985 working men (The Olivetti Heart Study) 1994										
123828		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36-q37	GCG	162707633	162717003		Tanizawa Y 1994	7983806				Glucagon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002054.2	Japanese	Japan	Y Wang	2641	Hs.516494	MODY		Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2731-6	Human glucagon-like peptide-1 receptor gene in NIDDM		138030	2796	1	1994												
123829	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36-q37	GCG	162707633	162717003		Shiota, D.  et al. 2002	11961492				Glucagon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002054.2		Brazil	CDC GDPinfo	2641	Hs.516494			Pancreas. 2002 May;24(4):386-90	Role of the Gly40Ser Mutation in the Glucagon Receptor Gene in Brazilian Patients With Type 2 Diabetes Mellitus		138030	16884	2	2002	 Our results show that the Gly40Ser mutation in the glucagon receptor gene is not associated with type 2 diabetes in a Brazilian population. However, a reduction of insulin secretion was observed in Gly40Ser carriers.	Case:115 patients with type 2 diabetes:Brazil;Control:115 control subjects not specified further in abstract										
123830	Y	non-Type 1 diabetes mellitus	OTHER	OTH	Diabetes Mellitus, Type 2	17	17q25	GCGR	2320462	2330377		Ristow M et al. 1996	8858207				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160		Germany	KGB	2642	Hs.208			Diabetes research and clinical practice. 1996 May;32(3):183-5	Restricted geographical extension of the association of a glucagon receptor gene mutation (Gly40Ser) with non-insulin-dependent diabetes mellitus.		138033	2797	1	1996												
123831	Y	non-Type 1 diabetes mellitus	OTHER	OTH	Diabetes Mellitus, Type 2	17	17q25	GCGR	2320462	2330377		Hager J et al. 1995	7773293				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC001166			KGB	2642	Hs.208			Nature genetics. 1995 Mar;9(3):299-304	A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus.		138033	2798	1	1995												
123824		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101			11436564				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		139200	26878	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
123825	Y	free glutarate excretion	OTHER	OTH	Amino Acid Metabolism, Inborn Errors	19	19p13.2	GCDH	12862973	12871783		Christensen E et al. 1997	9266361				Glutaryl-Coenzyme A dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000159.2		Netherlands|Spain	KGB	2639	Hs.532699			Journal of inherited metabolic disease. 1997 Jul;20(3):383-6	Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.		608801	2793	1	1997												
123826		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36-q37	GCG	162707633	162717003		Tanizawa Y 1994	8194659				Glucagon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002054.2	Caucasian		Y Wang	2641	Hs.516494			Diabetes. 1994 Jun;43(6):752-7	Human glucagon-like peptide-1 receptor gene in NIDDM. Identification and use of simple sequence repeat polymorphisms in genetic analysis.		138030	2794	1	1994												
123821		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	4	4q12-q13	GC	72826274	72890101		Park, B. L.  et al. 2004	15607028				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	Korean	Korea	CDC GDPinfo	2638	Hs.418497			Journal of biochemistry and molecular biology. 2004 Nov;37(6):691-9	Association of interleukin 10 haplotype with low bone mineral density in Korean postmenopausal women		139200	26021	2	2004	Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.	Cohort 370 Korean postmenopausal women 										
123822		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	4	4q12-q13	GC	72826274	72890101			11785295				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		139200	26022	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
123823		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		4	4q12-q13	GC	72826274	72890101		Scheil, H. G.  et al. 2004	15648851				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		139200	26877	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
123818		lung function; PAH metabolites, urinary	OTHER	OTH		4	4q12-q13	GC	72826274	72890101		Morera, B.  et al. 2001	12189808				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Rev Biol Trop. 2001 Sep-Dec;49(4-Mar):1253-60	Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci		139200	17995	2	2001	Allele frequencies of the markers HLA-DQA1 and GYPA were found to be significantly different between the populations of Nicaragua and Costa Rica. Nevertheless, genetic distances showed that Nicaragua is close to other Hispanic-admixed populations like those from Argentina, Chile, Colombia, Costa Rica, and USA Hispanics. The loci set was assessed to be useful for paternity testing and individual identification in the Nicaraguan population residing in Costa Rica.	Cohort 100 unrelated Nicaraguans Costa Rica 										
123819		Alzheimer's disease; chronic obstructive pulmonary disease/COPD	NEUROLOGICAL	NEUR		4	4q12-q13	GC	72826274	72890101		Das, K.  et al. 2003	14523999				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	Indian		CDC GDPinfo	2638	Hs.418497			Anthropol Anz. 2003 Sep;61(3):261-8	Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India		139200	21508	2	2003	The overall analysis showed that these polymorphisms are useful anthropological markers for micro-evolutionary and genetic structure studies.	Cohort three subpopulations (Bison Horn Maria of the Kuakonda and Tokapal Block, and Abuj Maria of the Abujmar Hills of the Orchha block) of the Maria Gond tribe Madhya Pradesh, India 										
123820		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	4	4q12-q13	GC	72826274	72890101			15230135				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Ter Arkh. 2004 ;76(5):61-5	[Allele polymorphism of alkaline phosphatase, acid soluble phosphatase, and vitamin D-binding protein genes in postmenopausal osteoporosis]		139200	24467	2	2004	 It is suggested that genotypes SS, 2F and FS have marked functional differences in fixation and transport of vitamin D active metabolites involved in metabolism of bone tissue in OP.	Control:51 osteoporosis free femas in the same age interval (mean age 69.0 +/- 5.6 years);Case:70 females with osteoporosis aged 60-79 years (mean age 71.0 +/- 6.2 years)										
123815		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101		Lu, M.  et al. 2004	15059409				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Feb;43(2):117-20	[The relationship between vitamin D binding protein gene polymorphism and chronic obstructive pulmonary disease]		139200	10793	2	2004	 Our result suggests that allele 1F is one of the risk factors for COPD associated with smoking. 1F homozygote may increase the risk of COPD. On the other hand, allele 2 might have a protective effect on pathogenesis of COPD.	Control:52 Han Nationality smokers without COPD;Case:69 Han Nationality smokers with COPD:China										
123816	N	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101		Kasuga, I.  et al. 2003	12947140				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDPinfo	2638	Hs.418497			Thorax. 2003 Sep;58(9):790-3	Lack of association of group specific component haplotypes with lung function in smokers.		139200	16880	2	2003	 The GC haplotype does not contribute to reduced lung function in this cohort of smokers.	Cohort a large cohort of smokers with high or low lung function 										
123817	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive|Chronic Disease	4	4q12-q13	GC	72826274	72890101		Laufs, J.  et al. 2004	14987123				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	Icelandic	Iceland	CDC GDPinfo	2638	Hs.418497			American journal of pharmacogenomics. 2004 ;4(1):63-8	Association of vitamin d binding protein variants with chronic mucus hypersecretion in iceland		139200	16882	2	2004	Taken together, these results demonstrate that the GC*1F and GC*2 alleles are associated with sputum hypersecretion in individuals who are at increased risk of developing COPD.	Case:102/46/48 chronic obstructive pulmonary disease patients (n=102), asthmat patients (n=46) and patients with chronic mucous hypersecretion (n=48);Control:183:controls										
123812	Y	bone mineral density	METABOLIC	MET	Osteoporosis|Spinal Fractures	4	4q12-q13	GC	72826274	72890101		Papiha SS et al. 1999	10485974				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			KGB	2638	Hs.418497			Calcified tissue international. 1999 Oct;65(4):262-6	Vitamin D binding protein gene in male osteoporosis: association of plasma DBP and bone mineral density with (TAAA)(n)-Alu polymorphism in DBP.		139200	2790	1	1999												
123813	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	4	4q12-q13	GC	72826274	72890101	n	Niino M et al. 2002	12044990				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	Japanese	Japan	KGB	2638	Hs.418497			Journal of neuroimmunology. 2002 Jun;127(2-Jan):177-9	No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS.		139200	2791	1	2002												
123814		COPD	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101		Ito I 2004	14718422				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	Japanese		KGB	2638	Hs.418497			Chest. 2004 Jan;125(1):63-70	Risk and severity of COPD is associated with the group-specific component of serum globulin 1F allele.		139200	2792	1	2004	 Gc-globulin polymorphism is significantly associated with susceptibility to COPD, and also with the severity of the disease.											
123808		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Osteoarthritis	4	4q12-q13	GC	72826274	72890101		Kahl LE et al. 1989	2786461				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			KGB	2638	Hs.418497			Disease markers. 1989 Apr-Jun;7(2):71-8	Alpha-1-antitrypsin (PI) and vitamin-D binding globulin (GC) phenotypes in rheumatoid arthritis: absence of an association.		139200	2786	1	1989												
123809		oral glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State	4	4q12-q13	GC	72826274	72890101		Baier LJ et al. 1998	9709981				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			KGB	2638	Hs.418497			The Journal of clinical endocrinology and metabolism. 1998 Aug;83(8):2993-6	Variations in the vitamin D-binding protein (Gc locus) are associated with oral glucose tolerance in nondiabetic Pima Indians.		139200	2787	1	1998												
123810	Y	fasting plasma insulin levels	OTHER	OTH	Insulin Resistance	4	4q12-q13	GC	72826274	72890101		Hirai M et al. 2000	10843180				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036030	Japanese	Japan	KGB	2638	Hs.418497			The Journal of clinical endocrinology and metabolism. 2000 May;85(5):1951-3	Variations in vitamin D-binding protein (group-specific component protein) are associated with fasting plasma insulin levels in Japanese with normal glucose tolerance.		139200	2788	1	2000												
123804	Y	Gaucher disease	METABOLIC	MET	Hypertension, Pulmonary|Gaucher Disease	1	1q21	GBA	153450239	153463837		Mistry, P.  et al. 2002	12359135				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):91-8	Pulmonary hypertension in type 1 Gaucher's disease:genetic and epigenetic determinants of phenotype and response to therapy.		606463	21507	2	2002	Our study reveals a remarkable predisposition for PH in type 1 GD. Progression to severe, life-threatening PH occurs in the presence of additional genetic factors (non-N370S GBA mutation, positive family history, and ACE I gene polymorphism) and epigenetic modifiers (i.e., asplenia and female sex). Splenectomy should be avoided and in high-risk patients, ERT+/-vasodilators/coumadin should be initiated.	Case:134 consecutive patients with Type 1 Gaucher's disease (on enzyme replacment therapy (n=94) and untreated:(n=40))	enzyme replacement therapy									
123805		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	3	3p12.3	GBE1	81621540	81893640		McCarthy, J. J.  et al. 2003	14557872				Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000158.1			CDC GDPinfo	2632	Hs.436062			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		607839	26020	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
123806		hepatitis B	INFECTION	INF	Hepatitis B	1	1p22.2	GBP2	89344430	89388846		King, J. K.  et al. 2002	12447867				Guanylate binding protein 2, interferon-inducible	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004120.3			CDC GDPinfo	2634	Hs.386567			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		600412	26876	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
123801	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	1	1q21	GBA	153450239	153463837		Aharon-Peretz, J.  et al. 2004	15525722				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			The New England journal of medicine. 2004 Nov;351(19):1972-7	Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.		606463	16874	2	2004	 Our results suggest that heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease.	Control:1,543 healthy Ashkenazi Jews;Case:99/74 Ashkenazi patients with Parkinson's disease (n=99) and Alzheimer's disease (n=74)										
123802		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Elstein, D.  et al. 2005	15857183				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Genetic testing. 2005 ;9(1):26-9	Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.		606463	16875	2	2005	Although genotype-phenotype correlation in this case may be difficult, because the V394L mutation when seen in a compound heterozygote with a null allele results in neuronopathic disease, one cannot conclude that this mutation is protective of neuronopathic disease and hence this is important for counseling of at-risk populations.	Cohort 2,836 Gaucher disease patients from the international registry Cohort 476 Gaucher disease patients from a large referral clinic 										
123803		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Gaucher Disease|Dementia|Disease Progression|Genetic Predisposition to Disease	1	1q21	GBA	153450239	153463837		Aharon-Peretz, J.  et al. 2005	16148263				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Neurology. 2005 Nov;65(9):1460-1	Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.		606463	16876	2	2005												
123798		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Brautbar, A.  et al. 2003	12972024				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Blood cells, molecules & diseases. 2003 Sep-Oct;31(2):187-9; discussion 190-1	The 1604A (R496H) mutation in Gaucher disease:genotype/phenotype correlation.		606463	16871	2	2003	There was a marked overrepresentation of severe alleles in patients carrying the 1604A mutation, suggesting that many patients who are compound heterozygotes for 1604A are not diagnosed as having Gaucher disease because their disease is presumably so mild as to evade detection. In view of its rarity and mild expression, the inclusion of the 1604A mutation in the standard kit for screening for Gaucher disease is unnecessary.	Cohort Patients in two Gaucher clinics (in the United States and Israel) and from an international Gaucher registry Cohort 200 healthy Ashkenazi Jews 										
123799	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Gaucher Disease	1	1q21	GBA	153450239	153463837		Lwin, A.  et al. 2004	14728994				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Molecular genetics and metabolism. 2004 Jan;81(1):70-3	Glucocerebrosidase mutations in subjects with parkinsonism		606463	16872	2	2004	Our findings suggest that mutations in glucocerebrosidase may be a risk factor for the development of parkinsonism.	Cohort 57 subjects carrying the diagnosis of Parkinson disease 										
123800	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1q21	GBA	153450239	153463837		Sato, C.  et al. 2004	15517592				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDPinfo	2629	Hs.282997			Movement disorders. 2005 Mar;20(3):367-70	Analysis of the glucocerebrosidase gene in Parkinson's disease.		606463	16873	2	2004	Our results demonstrate a marginally significant association of GBA mutations with PD and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD (P = 0.048).	Control:122 normal controls;Case:88 Parkinson's disease cases										
123795	Y	Gaucher disease	OTHER	OTH	Gaucher Disease	1	1q21	GBA	153450239	153463837		Zimran A et al. 1994	8160756				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			KGB	2629	Hs.282997			American journal of medical genetics. 1994 Mar;50(1):74-8	RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.		606463	2784	1	1994												
123796		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q21	GBA	153450239	153463837		Clark, L. N.  et al. 2004	15517591				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2	Jewish		CDC GDPinfo	2629	Hs.282997			Movement disorders. 2005 Jan;20(1):100-3	Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.		606463	10792	2	2004	The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study.	Case:160 Parkinson's disease patients of Jewish ethnicity;Control:92 controls of Jewish ethnicity										
123797		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Torralba, M. A.  et al. 2002	12482401				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2	Spanish	Spain	CDC GDPinfo	2629	Hs.282997			Blood cells, molecules & diseases. 2002 Jul-Aug;29(1):35-40	High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.		606463	16870	2	2002	Such a high prevalence in this sample suggests that this allele can be more common than expected among GD patients.	Case:124 Spanish Gaucher disease patients										
123792		transient myeloproliferative disorder	DEVELOPMENTAL	DEV	Leukemia, Megakaryoblastic, Acute|Down Syndrome|Myeloproliferative Disorders	X	Xp11.23	GATA1	48529905	48537661		Xu, G.  et al. 2003	12816863				GATA binding protein 1 (globin transcription factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002049.2			CDC GDPinfo	2623	Hs.765			Blood. 2003 Oct;102(8):2960-8	Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome.		305371	16867	2	2003	These results indicate that expression of GATA-1 with a defective N-terminal activation domain contributes to the expansion of TMD blast cells and that other genetic changes contribute to the development of AMKL in Down's syndrome.	Cohort 22 transient myeloproliferative disorder of Down's syndrome 										
123793		lymphoproliferative disorders	OTHER	OTH	Thrombocythemia, Hemorrhagic	X	Xp11.23	GATA1	48529905	48537661		Gandini, D.  et al. 2004	15136229				GATA binding protein 1 (globin transcription factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002049.2			CDC GDPinfo	2623	Hs.765			Haematologica. 2004 May;89(5):613-5	No mutations in the GATA-1 gene detected in patients with acquired essential thrombocythemia.		305371	16868	2	2004	We screened this gene in 46 patients with essential thrombocythemia and identified only a common single nucleotide polymorphism that is unlikely to be of pathological significance.	Cohort 46 patients with essential thrombocythemia 										
123794	Y	asthma	IMMUNE	IMM	Asthma	10	10p15	GATA3	8136672	8157170		Pykalainen, M.  et al. 2005	15637551				GATA binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002295.1		Finland	CDC GDPinfo	2625	Hs.524134			The Journal of allergy and clinical immunology. 2005 Jan;115(1):80-7	Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes		131320	19722	2	2005	 We identified a panel of novel SNPs in genes coding for proteins important in the T H 1/T H 2 cell differentiation. SNPs of the GATA3 gene showed an initial association to asthma-related phenotypes. Elucidation of the importance of the identified panel of SNPs in other T H 1/T H 2 mediated diseases will be of great interest.	Case:245 asthmatic patients;Control:405 population-based controls										
123789		stroke, atherothrombotic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Angina Pectoris|Myocardial Infarction|Genetic Predisposition to Disease	13	13q34	GAS6	113546912	113590396		Munoz, X.  et al. 2004	15108283				Growth arrest-specific 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000820.1			CDC GDPinfo	2621	Hs.369201			Human mutation. 2004 May;23(5):506-12	Human vitamin K-dependent GAS6: gene structure,allelic variation, and association with stroke.		600441	16866	2	2004	The SNP identification in GAS6 reported here would be very useful in future association studies aimed at determining the physiologic role of GAS6 in stroke and other human diseases.	Case stroke patients;Control:controls										
123790	Y	macrothrombocytopenia and anemia	OTHER	OTH	Anemia|Anemia, Dyserythropoietic, Congenital|Thrombocytopenia	X	Xp11.23	GATA1	48529905	48537661		Freson K et al. 2002	11809723				GATA binding protein 1 (globin transcription factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002049.2			KGB	2623	Hs.765			Human molecular genetics. 2002 Jan;11(2):147-52	Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.		305371	2782	1	2002	We conclude that  the nature of the amino acid substitution at position 218 of the Nf of GATA1 is of crucial importance in determining the severity of the phenotype in X-linked macrothrombocytopenia patients and possibly also in inducing skewed X inactivation.											
123791	Y	megakaryocytic malignancies	OTHER	OTH	Leukemia, Megakaryoblastic, Acute|Cell Transformation, Neoplastic|Down Syndrome|Myeloproliferative Disorders|Trisomy	X	Xp11.23	GATA1	48529905	48537661		Rainis L 2003	12649131				GATA binding protein 1 (globin transcription factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002049.2			KGB	2623	Hs.765			Blood. 2003 Aug;102(3):981-6	Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.		305371	2783	1	2003												
123786		galactosemia; hyperphenylalaninaemia	METABOLIC	MET	Galactosemias|Phenylketonurias	9	9p13	GALT	34636634	34640573		Zekanowski, C.  et al. 2001	11678552				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Polish	Poland	CDC GDPinfo	2592	Hs.522090			Journal of medical screening. 2001 ;8(3):132-6	Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience		606999	18804	2	2001	 Identification of mild or intermediate mutations causing HPA could provide fast and reliable information about future clinical outcome of a newborn infant. Molecular diagnosis of HPA should be preceded by biochemical analysis and implemented to differentiate mild forms of HPA and cases of ambiguous classification. Because of multiple rare mutations scattered on all exons, scanning of the entire PAH coding sequence could be useful and cost beneficial. Routine genotyping is not proposed in classic phenylketonuria and classic galactosaemia, as it provides limited additional, prospective information on the clinical phenotype.	Cohort 101 hyperphenylalaninaemic patients Cohort 77 patients with classic galactosaemia 										
123787	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Nerve Degeneration	19	19q13.1	GAPDHS	40716153	40728061	0.005	Li Y et al 2004	15507493				Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092032	Caucasian			26330	Hs.248017			Proceedings of the National Academy of Sciences of	Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.		609169	6739	1	2004		Case:1089; Control:1196										
123788	Y	proximal chromosome 9p to q and distal chromosome 9q	CANCER	CAN	Carcinoma, Transitional Cell|Bladder Neoplasms|Chromosome Deletion|	9	9q21.3-q22	GAS1	88749097	88751924		Simoneau AR et al. 1996	8895761				Growth arrest-specific 1				KGB	2619	Hs.65029			Cancer research. 1996 Nov;56(21):5039-43	Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and the initial screening for GAS1 and PTC mutations.		139185	2781	1	1996												
123783		galactosemia	METABOLIC	MET	Galactosemias|Mental Retardation	9	9p13	GALT	34636634	34640573		Schweitzer-Krantz, S.   2003	14614623				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3		Germany	CDC GDPinfo	2592	Hs.522090			European journal of pediatrics. 2003 Dec;162 Suppl 1:S50-3	Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issueof galactosaemia.		606999	16862	2	2003	 Newborn screening for classical galactosaemia does not change the long-term complications of the disease such as speech disorders, mental retardation, ataxia and in females hypergonadotropic hypogonadism.	Cohort 148 galactosemic patients born between 1955 and 1995 Germany 										
123784	Y	cataract, presenile	VISION	VIS	Galactosemias|Cataract	9	9p13	GALT	34636634	34640573		Karas, N.  et al. 2003	14707519				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Slovene		CDC GDPinfo	2592	Hs.522090			Journal of inherited metabolic disease. 2003 ;26(7):699-704	Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.		606999	16863	2	2003	Our results support the reported association of decreased GALT activity with idiopathic presenile cataract. Molecular analysis indicates that, in the Slovenian population, this association is linked to the K285N mutation, which is neonatally benign in heterozygotes.	Case Slovenian patients with idiopathic presenile:cataract;Control:controls										
123785		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	9	9p13	GALT	34636634	34640573		Mlinar, B.  et al. 2005	16009197				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	2592	Hs.522090			Fertility and sterility. 2005 Jul;84(1):253-5	Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure.		606999	16864	2	2005												
123780	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	9	9p13	GALT	34636634	34640573		Cozen, W.  et al. 2002	11936817				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3		California	CDC GDPinfo	2592	Hs.522090			Cancer causes & control. 2002 Mar;13(2):113-20	Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States).		606999	16859	2	2002	 Differences in galactose intake and GALT metabolism do not contribute significantly to the risk of ovarian cancer. There is some evidence that galactose intake may play a role in the development of borderline ovarian cancer among women who carry the uncommon GALT N314D polymorphism. More data are needed if this latter suggestion is to be definitively addressed.	Case:136 borderline ovarian cancer cases;Case:312 Hyperandrogenism and the insulin gene VNTR regulatory polymorphism are not associated in Spanish women. Los Angeles, California:1992-1998;Control:452 English-speaking non-Asian women with at least one intact ovary matched to cases on race/ethnicity (African-American, Latina, non-Latina White), date of birth (+/- at 3 years) and residence:neighborhood	diet hormones, exogenous									
123781		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	9	9p13	GALT	34636634	34640573		Goodman, M. T.  et al. 2002	12370157				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3		California|Hawaii	CDC GDPinfo	2592	Hs.522090			American journal of epidemiology. 2002 Oct;156(8):693-701	Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer		606999	16860	2	2002	The risk associated with the presence of at least one variant Asp314 allele was 0.77 (95% confidence	Case:239 ovarian cancer cases;Control:244 population controls										
123782		endometriosis	REPRODUCTION	REP	Galactosemias	9	9p13	GALT	34636634	34640573		Lukac-Bajalo, J.  et al. 2002	12521227			intron	Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Caucasian	Slovenia	CDC GDPinfo	2592	Hs.522090			Clinical chemistry and laboratory medicine. 2002 Nov;40(11):1109-13	Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population		606999	16861	2	2002	These results correlate well with those reported for most other healthy Caucasian populations.	Cohort 174 individuals from a healthy Slovenian population 										
123777	N	infertility, female	REPRODUCTION	REP	Galactosemias|Infertility, Female	9	9p13	GALT	34636634	34640573		Lukac Bajalo, J.  et al. 2005	15749517	Q188R, K285N, and N314D			Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	2592	Hs.522090			Fertility and sterility. 2005 Mar;83(3):776-8	Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility.		606999	10791	2	2005	No statistically significant differences were observed in the allele frequencies between the infertile women and control groups.	Case infertile women;Control:controls										
123778	N	endometriosis	REPRODUCTION	REP	Endometriosis	9	9p13	GALT	34636634	34640573		Stefansson, H.  et al. 2001	11704127				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	2592	Hs.522090			Fertility and sterility. 2001 Nov;76(5):1019-22	Endometriosis is not associated with or linked to the GALT gene		606999	16857	2	2001	The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.	Control:213 unrelated control women;Case:85 women with endometriosis										
123779		galactosemia	METABOLIC	MET	Galactosemias	9	9p13	GALT	34636634	34640573		Item, C.  et al. 2002	11919338				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3		Austria	CDC GDPinfo	2592	Hs.522090			Pediatric research. 2002 Apr;51(4):511-6	Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.		606999	16858	2	2002	We conclude that  a rapid and automatable confirmation test for unknown GALT mutations, e.g. on a high-density oligonucleotide array basis, has the potential to lower the recall rate of galactosemia screening in our population by about five-fold from 0.25 to 0.046%. Further research, however, will be required before the development of such a test can be advocated.	Case:110 newborns with a positive total galactose screening:test										
123774	N	congenital anomalies	DEVELOPMENTAL	DEV		9	9p13	GALT	34636634	34640573		Klipstein, S.  et al. 2003	12606594	N314D			Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	2592	Hs.522090			Molecular human reproduction. 2003 Mar;9(3):171-4	The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina.		606999	10788	2	2003	It is unlikely that either maternal or fetal GALT enzyme activity could affect paramesonephric duct development, because neither galactosaemic subjects nor their children have an increased incidence of uterine anomalies.	Control:138:controls;Case:32 patients with congenital absence of the uterus and:vagina										
123775	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	9	9p13	GALT	34636634	34640573		Fung, W. L.  et al. 2003	12869412	N314D			Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3		Canada	CDC GDPinfo	2592	Hs.522090			Cancer epidemiology, biomarkers & prevention. 2003 Jul;12(7):678-80	The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer.		606999	10789	2	2003	We conclude that  the GALT N314D allele does not predispose to epithelial ovarian cancer.	Control:364 unaffected female controls;Case:891 incident cases of epithelial ovarian cancer										
123776		endometriosis	REPRODUCTION	REP	Galactosemias|Syndrome	9	9p13	GALT	34636634	34640573		Tighe, O.  et al. 2004	15308134				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Irish	Ireland	CDC GDPinfo	2592	Hs.522090			Molecular genetics and metabolism. 2004 Aug;82(4):345-7	Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population.		606999	10790	2	2004	No significant differences in allele frequency were detected between the Traveller and non-Traveller groups, or between the Irish population groups and the literature values for Northern and Western Europe.	Cohort 743 blood samples Ireland 										
123771	Y	galactosemia	OTHER	OTH	Galactosemias	9	9p13	GALT	34636634	34640573		Fridovich-Keil JL et al. 1995	7887417				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR606256			KGB	2592	Hs.522090			Am J Hum Genet	Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.		606999	2778	1	1995												
123772	Y	Duarte galactosemia	OTHER	OTH	Galactosemias	9	9p13	GALT	34636634	34640573		Elsas LJ et al. 1994	8198125				galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR606256			KGB	2592	Hs.522090			American journal of human genetics. 1994 Jun;54(6)	A common mutation associated with the Duarte galactosemia allele.		606999	2779	1	1994	We conclude that  the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%.											
123773		galactosemia	METABOLIC	MET	Galactosemias	9	9p13	GALT	34636634	34640573		Suzuki, M.  et al. 2001	11511927				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	2592	Hs.522090			Human genetics. 2001 Aug;109(2):210-5	Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.		606999	10787	2	2001	Based upon the gene frequency of the Q188R mutation in the White population, the birth incidence of classic galactosemia is estimated at one patient per 47,000 in the White population. This prevalence would be increased by inbreeding. It agrees well with the results from newborn screening programs and is only minimally higher than that reported in most studies, suggesting that most, if not all, infants with the galactosemia genotype are born and survive sufficiently long to be screened.	Cohort 4796 subjects from diverse ethnic groups 										
123768	N	Endometriosis	REPRODUCTION	REP	Endometriosis	9	9p13	GALT	34636634	34640573	n	Stefansson H et al. 2001	11704127				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			KGB	2592	Hs.522090			Fertility and sterility. 2001 Nov;76(5):1019-22	Endometriosis is not associated with or linked to the GALT gene.		606999	2775	1	2001	The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.	Control:213 unrelated control women;Case:85 women with endometriosis										
123769		ovarian cancer and endometriosis	CANCER	CAN	Ovarian Diseases|Ovarian Neoplasms|Endometriosis	9	9p13	GALT	34636634	34640573		Morland SJ et al. 1998	9714048				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			KGB	2592	Hs.522090			International journal of cancer. Journal international du cancer. 1998 Sep;77(6):825-7	Mutation of galactose-1-phosphate uridyl transferase and its association with ovarian cancer and endometriosis.		606999	2776	1	1998												
123770	Y	Endometriosis	REPRODUCTION	REP	Scoliosis|Endometriosis|Prenatal Exposure Delayed Effects	9	9p13	GALT	34636634	34640573		Cramer DW et al. 1996	9238674	N314D			Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			KGB	2592	Hs.522090			Molecular human reproduction. 1996 Mar;2(3):149-52	Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).		606999	2777	1	1996												
123764		Galactokinase deficiency	METABOLIC	MET	Galactosemias	17	17q24	GALK1	71265612	71272875		Hunter, M.  et al. 2002	11978884				Galactokinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000154.1	Gypsy, Roma	Turkey|Europe|Bulgaria|Hungary|Spain|Switzerland	CDC GDPinfo	2584	Hs.407966			Pediatric research. 2002 May;51(5):602-6	The P28T Mutation in the GALK1 Gene Accounts for Galactokinase Deficiency in Roma (Gypsy) Patients across Europe		604313	16855	2	2002	The P28T mutation is thus likely to account for a high proportion of galactokinase deficiency cases across Europe. Mutation-based pilot newborn screening programs would provide current incidence figures and help to design long-term prevention of infantile cataracts due to galactokinase deficiency.	Cohort 803 unrelated control individuals of Romani ethnicity from Bulgaria, Hungary, and Spain 										
123765	N	cataract, senile	VISION	VIS	Cataract	17	17q24	GALK1	71265612	71272875		Maraini, G.  et al. 2003	12942049				Galactokinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000154.1	Italian	Italy	CDC GDPinfo	2584	Hs.407966			Molecular vision [electronic resource]. 2003 Aug;9:397-400	Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.		604313	16856	2	2003	 In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. Since this is due to a lack of sequence changes in both affected and control individuals, this study cannot rule out the possibility of an association in other populations.	Case persons with clinically significant age-related:cataract:Italy;Control persons without lens opacities										
123766		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q24-q31	GALNT3	166311569	166358952		Kristiansen OP 2004	10679951				UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004482.2	Danish	Denmark	Y Wang	2591	Hs.170986			Human mutation. 2000 Mar;15(3):295-6	IDDM7 links to insulin-dependent diabetes mellitus in Danish multiplex families but linkage is not explained by novel polymorphisms in the candidate gene GALNT3. The Danish Study Group of Diabetes in Childhood and The Danish IDDM Epidemiology and Genetics		601756	2774	1	2004												
123761	Y	generalized epimerase-deficiency galactosemia	OTHER	OTH	Galactosemias	1	1p36-p35	GALE	23994675	23999881		Wohlers TM et al. 1999	9973283				UDP-galactose-4-epimerase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000403.3			KGB	2582	Hs.632380			American journal of human genetics. 1999 Feb;64(2):462-70	Identification and characterization of a mutation in the human UDP-galactose-4-epimerase gene associated with generalized epimerase-deficiency galactosemia.		606953	2772	1	1999												
123762	N	age-related cataract	VISION	VIS	Cataract	17	17q24	GALK1	71265612	71272875	n	Maraini G 2003	12942049				Galactokinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000154.1	Italian	Italy	KGB	2584	Hs.407966			Molecular vision [electronic resource]. 2003 Aug;9:397-400	Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.		604313	2773	1	2003	 In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. Since this is due to a lack of sequence changes in both affected and control individuals, this study cannot rule out the possibility of an association in other populations.	Case persons with clinically significant age-related:cataract:Italy;Control persons without lens opacities										
123763		Galactokinase deficiency	METABOLIC	MET	Cataract	17	17q24	GALK1	71265612	71272875		Okano, Y.  et al. 2001	11231902				Galactokinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000154.1	Chinese	Japan|Korea	CDC GDPinfo	2584	Hs.407966			American journal of human genetics. 2001 Apr;68(4):1036-42	A Genetic Factor for Age-Related Cataract:Identification and Characterization of a Novel Galactokinase Variant, "Osaka," in Asians		604313	16854	2	2001	The K(m) values for galactose and ATP-Mg(2+) in erythrocytes with homozygous A198V were similar to those of the healthy adult control subjects. A population study for A198V revealed prevalences of 4.1% in Japanese and 2.8% in Koreans, lower incidence in Taiwanese and Chinese, no incidence in blacks and whites from the United States, and a significantly high frequency (7.8%; P<.023) in Japanese individuals with bilateral cataract.	Control healthy adult control subjects;Case:3 infants with mild GALK deficiency										
123757		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q13.2	GAL	68208558	68215219		Eckenrode S 2004	10982176				Galanin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015973.3			Y Wang	51083	Hs.278959			Human genetics. 2000 Jan;106(1):14-8	Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses.		137035	6759	1	2004												
123759		anxiety disorder; alcoholism	PSYCH	PSY	Alcoholism	11	11q13.2	GAL	68208558	68215219			16314872				Galanin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015973.3			CDC GDPinfo	51083	Hs.278959			Molecular psychiatry. 2005	Association of galanin haplotypes with alcoholism and anxiety in two ethnically distinct populations		137035	16853	2	2005												
123760		Krabbe disease	NEUROLOGICAL	NEUR	Leukodystrophy, Globoid Cell	14	14q31	GALC	87469110	87529660		Harzer K et al. 2002	11814461	30-kb-deleted/502T allele		other	Galactosylceramidase (Krabbe disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000153.2			KGB	2581	Hs.513439	late onset (LOGLD)Krabbe disease		Clinica chimica acta; international journal of clinical chemistry. 2002 Mar;317(2-Jan):77-84	Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease.		606890	2771	1	2002	 A GALC genotype with one deleted and one polymorphic GALC activity-reducing allele can lead to enzymatic and clinical signs of LOGLD in the absence of marked GALC-PS deficiency. If an active PS hydrolysis in the fibroblasts of a LOGLD patient also reflected such hydrolysis in the brain, the psychosine hypothesis for GLD may need to be revised.											
123754	Y	obesity; birth weight	METABOLIC	MET	Obesity|Birth Weight	10	10p11.23	GAD2	26545599	26633493		Meyre, D.  et al. 2005	15671113				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDPinfo	2572	Hs.231829			The Journal of clinical endocrinology and metabolism. 2005 Apr;90(4):2384-90	Is glutamate decarboxylase 2 (GAD2) a genetic link between low birth weight and subsequent development of obesity in children?		138275	16851	2	2005	These results confirm the association between GAD2 -243 promoter SNP and the risk for obesity and suggest that GAD2 may be a polygenic component of the complex mechanisms linking birth weight to further risk for metabolic diseases, possibly involving the pleiotropic effect of insulin on fetal growth and later on feeding behavior.	Control:controls;Case:635 French Caucasian severely obese children from 3 different medical centers										
123755	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10p11.23	GAD2	26545599	26633493		De Luca, V.  et al. 2004	15091314				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDPinfo	2572	Hs.231829			Psychiatric genetics. 2004 Mar;14(1):39-42	Polymorphisms in glutamate decarboxylase genes:analysis in schizophrenia.		138275	21505	2	2004	Although our results are negative, this was the first study to investigate GAD genes in schizophrenia, and further studies of these genes, particularly with schizophrenia subtypes, may prove valuable.	Control:46:controls;Case:46 schizophrenic cases										
123756	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	10	10p11.23	GAD2	26545599	26633493		Zhang, B.  et al. 2005	15642443				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDPinfo	2572	Hs.231829			European psychiatry. 2005 Jan;20(1):45-9	An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.		138275	26019	2	2005	Therefore, we conclude the polymorphisms studied in the five genes do not play major roles in pathogenesis of paranoid schizophrenia in the population investigated.	Control:108 matched controls;Case:80 paranoid schizophrenics northern China										
123751	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10p11.23	GAD2	26545599	26633493	n	Johnson GC et al. 2002	12196483	all exons, the 3' untranslated region (UTR), the 5' UTR, and the 5' upstream region of GAD2			Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1	UK and Finnish families	Europe	Y Wang	2572	Hs.231829			Diabetes. 2002 Sep;51(9):2866-70	A comprehensive, statistically powered analysis of GAD2 in type 1 diabetes.		138275	2769	1	2002	Our results suggest that GAD2 does not play a major role in type 1 diabetes in these two European populations.											
123752		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10p11.23	GAD2	26545599	26633493		Wapelhorst B 2004	8679901				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			Y Wang	2572	Hs.231829			Autoimmunity. 1995 ;21(2):127-30	Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus.		138275	2770	1	2004												
123753	N	obesity	METABOLIC	MET	Obesity, Morbid|Genetic Predisposition to Disease	10	10p11.23	GAD2	26545599	26633493		Swarbrick, M. M.  et al. 2005	16122350				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDPinfo	2572	Hs.231829			PLoS biology. 2005 Sep;3(9):e315	Lack of support for the association between GAD2 polymorphisms and severe human obesity.		138275	10786	2	2005												
123748	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q31	GAD1	171381445	171425905		De Luca, V.  et al. 2004	15091314				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2			CDC GDPinfo	2571	Hs.420036			Psychiatric genetics. 2004 Mar;14(1):39-42	Polymorphisms in glutamate decarboxylase genes:analysis in schizophrenia.		605363	10785	2	2004	Although our results are negative, this was the first study to investigate GAD genes in schizophrenia, and further studies of these genes, particularly with schizophrenia subtypes, may prove valuable.	Control:46:controls;Case:46 schizophrenic cases										
123749		depression	PSYCH	PSY	Depressive Disorder	2	2q31	GAD1	171381445	171425905		Lappalainen, J.  et al. 2004	14681921				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2			CDC GDPinfo	2571	Hs.420036			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):81-6	Mutation screen of the glutamate decarboxylase-67 gene and haplotype association to unipolar depression.		605363	16849	2	2004	These results demonstrate a significant within-gene LD for GAD67 in the EA population and begin to establish a haplotype map for this gene. Furthermore, these results suggest that common genetic variation within the GAD67 gene does not play a major role in the predisposition to unipolar depression	Case:103 European-American subjects with depression;Control:125 European-American psychiatrically screened controls										
123750	Y	cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q31	GAD1	171381445	171425905		Kanno, K.  et al. 2004	15103710				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2	Japanese		CDC GDPinfo	2571	Hs.420036			American journal of medical genetics Part A. 2004 May;127(1):6-Nov	Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population		605363	16850	2	2004	Our data suggest that GAD67 is involved in the pathogenesis of NSCLP in the Japanese population.	Control:controls;Case:50 cleft lip with or without cleft palate probands:Japan										
123744		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	15	15q12	GABRG3	24799262	25451729		Dick DM 2004	14745296				Gamma-aminobutyric acid (GABA) A receptor, gamma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033223.1			KGB	2567	Hs.569475			Alcoholism, clinical and experimental research. 2004 Jan;28(1):9-Apr	Association of GABRG3 with alcohol dependence.		600233	2767	1	2004	 These analyses suggest that GABRG3 may be involved in the risk for alcohol dependence. These findings support the theory that the predisposition to alcoholism may be inherited as a general state of central nervous system disinhibition/hyperexcitability that results from an altered responsiveness to GABA.											
123746		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q33-q34	GABRP	170143342	170173628		Petryshen, T. L.  et al. 2005	16172613				Gamma-aminobutyric acid (GABA) A receptor, pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014211.1			CDC GDPinfo	2568	Hs.26225			Molecular psychiatry. 2005 Dec;10(12):1074-88, 1057	Genetic investigation of chromosome 5q GABA(A) receptor subunit genes in schizophrenia.		602729	26875	2	2005												
123747		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q31	GAD1	171381445	171425905		Rambrand T 2004	9048916				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2	Danish		Y Wang	2571	Hs.420036			Human genetics. 1997 Feb;99(2):177-85	Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings. The Danish Study Group of Diabetes in Childhood.		605363	2768	1	2004												
123741		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q31.1-q33.1	GABRG2	161427294	161515106		Petryshen, T. L.  et al. 2005	16172613				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Molecular psychiatry. 2005 Dec;10(12):1074-88, 1057	Genetic investigation of chromosome 5q GABA(A) receptor subunit genes in schizophrenia.		137164	26018	2	2005												
123742		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	5	5q31.1-q33.1	GABRG2	161427294	161515106		Foley, P. F.  et al. 2004	15542698				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Caucasian		CDC GDPinfo	2566	Hs.7195			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		137164	26874	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
123743		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Dick, D. M.  et al. 2003	12766633				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		137164	28046	2	2003	Review article											
123738		seizures	NEUROLOGICAL	NEUR	Epilepsy, Absence	5	5q31.1-q33.1	GABRG2	161427294	161515106		Ito, M.  et al. 2005	15955415				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Japanese	Japan	CDC GDPinfo	2566	Hs.7195			Neuroscience letters. 2005 Aug;383(3):220-4	Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.		137164	21503	2	2005												
123739	Y	prefrontal activity	NEUROLOGICAL	NEUR		5	5q31.1-q33.1	GABRG2	161427294	161515106		Winterer, G.  et al. 2000	11140951				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Human genetics. 2000 Nov;107(5):513-8	Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.		137164	21504	2	2000	No genotypic association was found for the GABRB2 nucleotide exchange polymorphism with any electrophysiological parameter. A significant association was found between the genotype of the intronic GABRG2 G-->A nucleotide exchange and the event-related N100/P200. A comparison of homozygous subjects carrying either the G/G or A/A genotype of the GABRG2 polymorphism consistently revealed an even stronger difference in the effect-size. Taking into account the risk of false-positive association findings attributable to multiple testing, our results encourage further replication studies to examine the phenotype-genotype relationship of GABRG2 gene variants and event-related prefrontal activity.	Cohort 95 psychiatrically healthy subjects of German descent 										
123740		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q31.1-q33.1	GABRG2	161427294	161515106		Chang, Y. T.  et al. 2002	12232773				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Taiwanese	Taiwan	CDC GDPinfo	2566	Hs.7195			Molecular psychiatry. 2002 ;7(8):828-9	Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.		137164	26017	2	2002	These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.	Control:149 subjects who had never drunk or only occasionally drank small quantities, and were matched to the cases by ethnicity and sex;Case:158 alcohol dependent Taiwanese Han:Taiwan										
123735	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic	5	5q31.1-q33.1	GABRG2	161427294	161515106		Madia, F.  et al. 2003	12694927				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Epilepsy research. 2003 Mar;53(3):196-200	No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.		137164	16845	2	2003	Our study demonstrates that GABRG2 is not a commonly involved in the etiology of SMEI and suggests that other and yet unidentified genes are involved in the syndrome	Case:53 severe myoclonic epilepsy of infancy patients										
123736	N	seizures, febrile	NEUROLOGICAL	NEUR	Seizures, Febrile	5	5q31.1-q33.1	GABRG2	161427294	161515106		Nakayama, J.  et al. 2003	12759178				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Japanese	Japan	CDC GDPinfo	2566	Hs.7195			Neuroscience letters. 2003 Jun;343(2):117-20	Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.		137164	16846	2	2003	Our results indicate that genomic variations of GABRG2 are not likely to be substantially involved in the etiology of FS in the Japanese population.	Control:106 control subjects;Case:55 independent Japanese trios with febrile seizures										
123737	Y	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Genetic Predisposition to Disease|Schizophrenia	5	5q31.1-q33.1	GABRG2	161427294	161515106		Nishiyama, T.  et al. 2005	15772696				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			The pharmacogenomics journal. 2005 ;5(2):89-95	Haplotype association between GABAA receptor gamma2 subunit gene (GABRG2) and methamphetamine use disorder.		137164	16847	2	2005	Although no associations were found in either allelic or genotypic frequencies, we detected a haplotypic association in GABRG2 with METH use disorder, but not with schizophrenia. This finding partly replicates a recent case-control study of GABRG2 in METH use disorder, and thus indicates that GABRG2 may be one of the susceptibility genes of METH use disorder.	Case:178/288 methanphetamine use disorder subjects (n-178) and:schizophrenics (n=288);Control:288:controls										
123732		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	5	5q31.1-q33.1	GABRG2	161427294	161515106		Li T et al. 2002	11920858				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Chinese	China	KGB	2566	Hs.7195			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		137164	2766	1	2002												
123734	Y	epilepsy; seizures, febrile	NEUROLOGICAL	NEUR	Epilepsy, Absence|Seizures, Febrile	5	5q31.1-q33.1	GABRG2	161427294	161515106		Kananura, C.  et al. 2002	12117362				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Archives of neurology. 2002 Jul;59(7):1137-41	A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.		137164	16844	2	2002	 Our study identified a splice-donor-site mutation that was probably causing a nonfunctional GABRG2 subunit. This mutation occurred in heterozygosity in the affected members of a single nuclear family, exhibiting a phenotypic spectrum of childhood absence epilepsy and febrile convulsions. The GABRG2 gene seems to confer a rare rather than a frequent major susceptibility effect to common idiopathic absence epilepsy syndromes.	Case:135 patients with idiopathic absence epilepsy;Control:154 unrelated and ethnically matched controls										
123729	Y	event-related prefrontal activity	NEUROLOGICAL	NEUR		5	5q31.1-q33.1	GABRG2	161427294	161515106		Winterer G et al. 2000	11140951				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			KGB	2566	Hs.7195			Human genetics. 2000 Nov;107(5):513-8	Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.		137164	2763	1	2000	No genotypic association was found for the GABRB2 nucleotide exchange polymorphism with any electrophysiological parameter. A significant association was found between the genotype of the intronic GABRG2 G-->A nucleotide exchange and the event-related N100/P200. A comparison of homozygous subjects carrying either the G/G or A/A genotype of the GABRG2 polymorphism consistently revealed an even stronger difference in the effect-size. Taking into account the risk of false-positive association findings attributable to multiple testing, our results encourage further replication studies to examine the phenotype-genotype relationship of GABRG2 gene variants and event-related prefrontal activity.	Cohort 95 psychiatrically healthy subjects of German descent										
123730		mood disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	5	5q31.1-q33.1	GABRG2	161427294	161515106		Yamada K 2003	12946574				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			KGB	2566	Hs.7195			Neuroscience letters. 2003 Sep;349(1):12-Sep	Evidence of association between gamma-aminobutyric acid type A receptor genes located on 5q34 and female patients with mood disorders.		137164	2764	1	2003												
123731	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q31.1-q33.1	GABRG2	161427294	161515106	n	Hsu YP et al. 1998	9602154			splice variant	Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Chinese	Taiwan	KGB	2566	Hs.7195			Brain research  Molecular brain research. 1998 May;56(2-Jan):284-6	Search for mutations near the alternatively spliced 8-amino-acid exon in the GABAA receptor gamma 2 subunit gene and lack of allelic association with alcoholism among four aboriginal groups and Han Chinese in Taiwan.		137164	2765	1	1998												
123726	Y	alcohol-dependence	CHEMDEPENDENCY	CHEM	Korsakoff Syndrome|Alcoholism|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Loh EW et al. 1999	10578235				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Scottish	Scotland	KGB	2566	Hs.7195			Molecular psychiatry. 1999 Nov;4(6):539-44	Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population.		137164	2760	1	1999												
123727		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	5	5q31.1-q33.1	GABRG2	161427294	161515106		Sander T et al. 1999	10195814				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			KGB	2566	Hs.7195			Alcoholism, clinical and experimental research. 1999 Mar;23(3):427-31	Association analysis of sequence variants of GABA(A) alpha6 beta2 and gamma2 gene cluster and alcohol dependence.		137164	2761	1	1999												
123728	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q31.1-q33.1	GABRG2	161427294	161515106		Chang YT et al. 2002	12232773				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1		Taiwan	KGB	2566	Hs.7195			Molecular psychiatry. 2002 ;7(8):828-9	Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.		137164	2762	1	2002	These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.	Control:149 subjects who had never drunk or only occasionally drank small quantities, and were matched to the cases by ethnicity and sex;Case:158 alcohol dependent Taiwanese Han:Taiwan										
123723	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence|Seizures, Febrile	5	5q31.1-q33.1	GABRG2	161427294	161515106		Kananura C et al. 2002	12117362			splice variant	Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			KGB	2566	Hs.7195			Archives of neurology. 2002 Jul;59(7):1137-41	A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.		137164	2757	1	2002	 Our study identified a splice-donor-site mutation that was probably causing a nonfunctional GABRG2 subunit. This mutation occurred in heterozygosity in the affected members of a single nuclear family, exhibiting a phenotypic spectrum of childhood absence epilepsy and febrile convulsions. The GABRG2 gene seems to confer a rare rather than a frequent major susceptibility effect to common idiopathic absence epilepsy syndromes.	Case:135 patients with idiopathic absence epilepsy;Control:154 unrelated and ethnically matched controls										
123724	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	5	5q31.1-q33.1	GABRG2	161427294	161515106		Li T et al. 2002	11920858				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Chinese	China	KGB	2566	Hs.7195			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		137164	2758	1	2002	Overall our results indicates that GABA(A)gamma2 genes is not likely to be a major genetic risk factor for heroin abuse in this population											
123725	Y	alcohol-dependence	CHEMDEPENDENCY	CHEM	Korsakoff Syndrome|Alcoholism|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Loh EW et al. 1999	10578235				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1	Scottish	Scotland	KGB	2566	Hs.7195	Korsakoff's psychosis		Molecular psychiatry. 1999 Nov;4(6):539-44	Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population.		137164	2759	1	1999	Our findings provide evidence for a role for the GABAA receptor subunit cluster on chromosome 5q33 in susceptibility to the alcohol dependence syndrome and Korsakoff's psychosis.											
123720		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	15	15q11.2-q12	GABRB3	24339786	24767432		Konishi, T.  et al. 2004	15318112				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4	Mexican	Los Angeles	CDC GDPinfo	2562	Hs.302352			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		137192	27427	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
123721		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	1	1p	GABRD	1940702	1952050		Lenzen, K. P.  et al. 2005	16023832				Gamma-aminobutyric acid (GABA) A receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000815.2			CDC GDPinfo	2563	Hs.113882			Epilepsy research. 2005 Jun;65(2-Jan):53-7	Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.		137163	16843	2	2005	 Our results provide no evidence that the functional GABRD His220 allele mediates a substantial susceptibility effect to common IGE syndromes in the German population.											
123722		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	4	4p12	GABRG1	45732543	45820839		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173536.3		United States	CDC GDPinfo	2565	Hs.375051			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		137166	26873	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123717		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	15	15q11.2-q12	GABRB3	24339786	24767432		Lu, J.  et al. 2002	12048673				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDPinfo	2562	Hs.302352			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):183-6	[Case-control study and transmission/disequilibrium test of childhood absence epilepsy]		137192	21502	2	2002	 Both microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The gamma-aminobutyric acid receptor subtype A genes GABRA5 and GABRB3 may be directly involved either in the etiology of CAE or in linkage disequilibrium with disease-predisposing sites.	Control:100:controls;Case:90 Chinese cases with childhood absence epilepsy										
123718		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	15	15q11.2-q12	GABRB3	24339786	24767432		Murray, J. C.   2002	12030886				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDPinfo	2562	Hs.302352			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		137192	24466	2	2002	Review article											
123719		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4		United States	CDC GDPinfo	2562	Hs.302352			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		137192	26016	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123714	Y	post-traumatic stress disorder	PSYCH	PSY	Sleep Initiation and Maintenance Disorders|Genetic Predisposition to Disease|Anxiety Disorders|Combat Disorders|Depressive Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Feusner, J.  et al. 2001	11711165				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDPinfo	2562	Hs.302352			Psychiatry research. 2001 Nov;104(2):109-17	GABA(A) receptor beta3 subunit gene and psychiatric morbidity in a post-traumatic stress disorder population		137192	16839	2	2001	In conclusion, the present study indicates that in a population of PTSD patients, heterozygosity of the GABRB3 major (G1) allele confers higher levels of somatic symptoms, anxiety/insomnia, social dysfunction and depression than found in homozygosity.	Cohort Caucasian male post-traumatic stress disorder patients 										
123715		alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease|Mood Disorders	15	15q11.2-q12	GABRB3	24339786	24767432		Young, R. M.  et al. 2004	15296817				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDPinfo	2562	Hs.302352			Psychiatry research. 2004 Jul;127(3):171-83	Alcohol-related expectancies are associated with the D(2) dopamine receptor and GABA(A) receptor beta3 subunit genes		137192	21500	2	2004	Biological influence in the development of some classes of cognitions is hypothesized. The clinical implications, particularly with regard to patient-treatment matching and the development of an integrated psychological and pharmacogenetic approach, are discussed.	Cohort 56 medically ill patients diagnosed with alcohol dependence 										
123716		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	15	15q11.2-q12	GABRB3	24339786	24767432		Konishi, T.  et al. 2004	15066703				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4	Mexican		CDC GDPinfo	2562	Hs.302352			Alcohol (Fayetteville, NY). 2004 Jan;32(1):45-52	Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans.		137192	21501	2	2004	Our findings indicate that the DRD2 -141C Ins allele and the 5-HTTLPR S allele are genetic risk factors for alcoholism in Mexican-Americans, and that smoking modulates the association between genetic risk factors and alcoholism.	Case:130 Mexican-American alcoholic men;Control:251 nonalcoholic control subjects (105 men and 146:women)										
123711		cirrhosis, alcoholic; alcoholism	OTHER	OTH	Alcoholism	5	5q34	GABRB2	160648013	160907708		Foley, P. F.  et al. 2004	15542698				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Caucasian		CDC GDPinfo	2561	Hs.591728			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		600232	26015	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
123712	Y	autism	PSYCH	PSY	Autistic Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Buxbaum JD et al. 2002	11920158				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			KGB	2562	Hs.302352			Molecular psychiatry. 2002 ;7(3):311-6	Association between a GABRB3 polymorphism and autism.		137192	2755	1	2002	These findings support a role for genetic variants within the GABA receptor gene complex in 15q11-13 in autistic disorder.											
123713	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Papadimitriou GN et al. 2001	11378843				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			KGB	2562	Hs.302352			American journal of medical genetics. 2001 May;105(4):317-20	GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.		137192	2756	1	2001	the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness 											
123708	N	prefrontal activity	NEUROLOGICAL	NEUR		5	5q34	GABRB2	160648013	160907708		Winterer, G.  et al. 2000	11140951				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1			CDC GDPinfo	2561	Hs.591728			Human genetics. 2000 Nov;107(5):513-8	Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.		600232	10783	2	2000	No genotypic association was found for the GABRB2 nucleotide exchange polymorphism with any electrophysiological parameter. A significant association was found between the genotype of the intronic GABRG2 G-->A nucleotide exchange and the event-related N100/P200. A comparison of homozygous subjects carrying either the G/G or A/A genotype of the GABRG2 polymorphism consistently revealed an even stronger difference in the effect-size. Taking into account the risk of false-positive association findings attributable to multiple testing, our results encourage further replication studies to examine the phenotype-genotype relationship of GABRG2 gene variants and event-related prefrontal activity.	Cohort 95 psychiatrically healthy subjects of German descent 										
123709		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q34	GABRB2	160648013	160907708		Chang, Y. T.  et al. 2002	12232773				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Taiwanese	Taiwan	CDC GDPinfo	2561	Hs.591728			Molecular psychiatry. 2002 ;7(8):828-9	Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.		600232	24464	2	2002	These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.	Control:149 subjects who had never drunk or only occasionally drank small quantities, and were matched to the cases by ethnicity and sex;Case:158 alcohol dependent Taiwanese Han:Taiwan										
123710		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q34	GABRB2	160648013	160907708		Petryshen, T. L.  et al. 2005	16172613				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1			CDC GDPinfo	2561	Hs.591728			Molecular psychiatry. 2005 Dec;10(12):1074-88, 1057	Genetic investigation of chromosome 5q GABA(A) receptor subunit genes in schizophrenia.		600232	24465	2	2005												
123704		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe	4	4p12	GABRB1	46728335	47123202		Ren, L.  et al. 2005	16278087				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2	Chinese		CDC GDPinfo	2560	Hs.27283			Seizure. 2005 Dec;14(8):611-3	Lack of GABA(B)R1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy.		137190	16838	2	2005												
123706	Y	alcohol-dependence	CHEMDEPENDENCY	CHEM	Korsakoff Syndrome|Alcoholism|Genetic Predisposition to Disease	5	5q34	GABRB2	160648013	160907708		Loh EW et al. 1999	10578235				gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Scottish	Scotland	KGB	2561	Hs.591728			Molecular psychiatry. 1999 Nov;4(6):539-44	Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population.		600232	2753	1	1999	Our findings provide evidence for a role for the GABAA receptor subunit cluster on chromosome 5q33 in susceptibility to the alcohol dependence syndrome and Korsakoff's psychosis.											
123707		event-related prefrontal activity	NEUROLOGICAL	NEUR		5	5q34	GABRB2	160648013	160907708		Winterer G et al. 2000	11140951				gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1			KGB	2561	Hs.591728			Human genetics. 2000 Nov;107(5):513-8	Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man.		600232	2754	1	2000												
123700	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	4	4p12	GABRB1	46728335	47123202		Parsian A et al. 1999	10490712				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			KGB	2560	Hs.27283			American journal of medical genetics. 1999 Oct;88(5):533-8	Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene.		137190	2751	1	1999	Results with TH and DRD4 genes indicate that these two genes may not play major roles in the development of alcoholism.											
123701	Y	manic-depressive illness	PSYCH	PSY	Bipolar Disorder	4	4p12	GABRB1	46728335	47123202		Puertollano R et al. 1997	9184321				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			KGB	2560	Hs.27283			American journal of medical genetics. 1997 May;74(3):342-4	A study of genetic association between manic-depressive illness and a highly polymorphic marker from the GABRbeta-1 gene.		137190	2752	1	1997												
123703		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Agoraphobia|Panic Disorder	4	4p12	GABRB1	46728335	47123202		Sand, P. G.  et al. 2000	11324945				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2		Germany	CDC GDPinfo	2560	Hs.27283			Psychiatric genetics. 2000 Dec;10(4):191-4	Exonic variants of the GABA(B) receptor gene and panic disorder.		137190	16837	2	2000	There was no indication of an increased vulnerability to panic disorder or agoraphobia with respect to the allelic variants under study.	Case panic disorder patients with and without:agoraphobia;Control blood donors										
123697		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q34	GABRA6	161045547	161061690		Petryshen, T. L.  et al. 2005	16172613				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			Molecular psychiatry. 2005 Dec;10(12):1074-88, 1057	Genetic investigation of chromosome 5q GABA(A) receptor subunit genes in schizophrenia.		137143	21499	2	2005												
123698		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	5	5q34	GABRA6	161045547	161061690		Foley, P. F.  et al. 2004	15542698				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1	Caucasian		CDC GDPinfo	2559	Hs.90791			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		137143	24463	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
123699		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q34	GABRA6	161045547	161061690		Dick, D. M.  et al. 2003	12766633				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		137143	27718	2	2003	Review article											
123694	Y	lipids; obesity; glucose; cortisol	METABOLIC	MET	Obesity	5	5q34	GABRA6	161045547	161061690		Rosmond, R.  et al. 2002	12080446				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			International journal of obesity and related metabolic disorders. 2002 Jul;26(7):938-41	Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion.		137143	16833	2	2002	 These findings suggest a role of the 1519T>C polymorphism in GABRA6 in the predisposition to hypercortisolism and perhaps abdominal obesity. The pathophysiology may involve various environmental factors, particularly stress, that destabilize the GABA-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability.	Cohort 284 unrelated Swedish men born in 1944. 										
123695	Y	alcohol abuse; neuroticism	CHEMDEPENDENCY	CHEM	Alcoholism|Neurotic Disorders	5	5q34	GABRA6	161045547	161061690		Sen, S.  et al. 2004	14744464				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			Biological psychiatry. 2004 Feb;55(3):244-9	Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism.		137143	16835	2	2004	 These findings support a role for the serotonin transporter and GABA(A) alpha6 subunit in depression-related traits.	Cohort 384 subjects who completed the Neuroticism, Extraversion, and Openness Personality Inventory 										
123696	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q34	GABRA6	161045547	161061690		Chang, Y. T.  et al. 2002	12232773				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1	Taiwanese	Taiwan	CDC GDPinfo	2559	Hs.90791			Molecular psychiatry. 2002 ;7(8):828-9	Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.		137143	21498	2	2002	These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.	Control:149 subjects who had never drunk or only occasionally drank small quantities, and were matched to the cases by ethnicity and sex;Case:158 alcohol dependent Taiwanese Han:Taiwan										
123691		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	5	5q34	GABRA6	161045547	161061690		Sander T et al. 1999	10195814				gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			KGB	2559	Hs.90791			Alcoholism, clinical and experimental research. 1999 Mar;23(3):427-31	Association analysis of sequence variants of GABA(A) alpha6 beta2 and gamma2 gene cluster and alcohol dependence.		137143	2750	1	1999												
123692	Y	anxiety disorder; blood pressure, arterial; memory impairment	PSYCH	PSY		5	5q34	GABRA6	161045547	161061690		Uhart, M.  et al. 2004	15197399				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			Molecular psychiatry. 2004 Nov;9(11):998-1006	GABRA6 gene polymorphism and an attenuated stress response.		137143	10780	2	2004	These results suggest that the T1521C polymorphism in the GABRA6 gene is associated with specific personality characteristics as well as a marked attenuation in hormonal and blood pressure responses to psychological stress.	Cohort 56 healthy subjects 										
123693	Y	obesity; cortisol	METABOLIC	MET	Obesity	5	5q34	GABRA6	161045547	161061690		Rosmond, R.  et al. 2002	12079890				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDPinfo	2559	Hs.90791			Annals of the New York Academy of Sciences. 2002 Jun;967:566-70	Association between a variant at the GABA(A)alpha6 receptor subunit gene, abdominal obesity, and cortisol secretion.		137143	16832	2	2002	In conclusion, these findings suggest a role of the point substitution (T-to-C) at nucleotide 1519 of GABRA6 in the predisposition to hypercortisolism and perhaps abdominal obesity. The pathophysiology may involve various environmental factors, particularly stress, that destabilize the GABA-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability.	Cohort 284 unrelated Swedish men born in 1944. 										
123688	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Korsakoff Syndrome|Alcoholism|Genetic Predisposition to Disease	5	5q34	GABRA6	161045547	161061690		Loh EW et al. 1999	10578235				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1	Scottish	Scotland	KGB	2559	Hs.90791			Molecular psychiatry. 1999 Nov;4(6):539-44	Association between variants at the GABAAbeta2 GABAAalpha6 and GABAAgamma2 gene cluster and alcohol dependence in a Scottish population.		137143	2747	1	1999	Our findings provide evidence for a role for the GABAA receptor subunit cluster on chromosome 5q33 in susceptibility to the alcohol dependence syndrome and Korsakoff's psychosis.											
123689	Y	obesity	METABOLIC	MET	Obesity	5	5q34	GABRA6	161045547	161061690		Rosmond R et al. 2002	12080446				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			KGB	2559	Hs.90791			International journal of obesity and related metabolic disorders. 2002 Jul;26(7):938-41	Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion.		137143	2748	1	2002	 These findings suggest a role of the 1519T>C polymorphism in GABRA6 in the predisposition to hypercortisolism and perhaps abdominal obesity. The pathophysiology may involve various environmental factors, particularly stress, that destabilize the GABA-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability.	Cohort 284 unrelated Swedish men born in 1944.										
123690	Y	obesity	METABOLIC	MET	Obesity	5	5q34	GABRA6	161045547	161061690		Rosmond R et al. 2002	12079890				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			KGB	2559	Hs.90791			Annals of the New York Academy of Sciences. 2002 Jun;967:566-70	Association between a variant at the GABA(A)alpha6 receptor subunit gene abdominal obesity and cortisol secretion.		137143	2749	1	2002	In conclusion, these findings suggest a role of the point substitution (T-to-C) at nucleotide 1519 of GABRA6 in the predisposition to hypercortisolism and perhaps abdominal obesity. The pathophysiology may involve various environmental factors, particularly stress, that destabilize the GABA-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability.	Cohort 284 unrelated Swedish men born in 1944.										
123685		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	15	15q11.2-q12	GABRA5	24663150	24777091		Lu, J.  et al. 2002	12048673				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			CDC GDPinfo	2558	Hs.24969			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):183-6	[Case-control study and transmission/disequilibrium test of childhood absence epilepsy]		137142	16840	2	2002	 Both microsatellite DNA GABRA5 and GABRB3 are good genetic markers. The gamma-aminobutyric acid receptor subtype A genes GABRA5 and GABRB3 may be directly involved either in the etiology of CAE or in linkage disequilibrium with disease-predisposing sites.	Control:100:controls;Case:90 Chinese cases with childhood absence epilepsy										
123686		bipolar disorder	PSYCH	PSY	Bipolar Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou, G. N.  et al. 2001	11378843				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			CDC GDPinfo	2558	Hs.24969			American journal of medical genetics. 2001 May;105(4):317-20	GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.		137142	21497	2	2001	No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease.	Control:44 unrelated controls (blood donors):Greek;Case:48 unrelated bipolar patients:Greek										
123687		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2		United States	CDC GDPinfo	2558	Hs.24969			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		137142	24462	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123682		bipolar disorder	PSYCH	PSY	Bipolar Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou GN et al. 2001	11378843				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			KGB	2558	Hs.24969			American journal of medical genetics. 2001 May;105(4):317-20	GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.		137142	7598	1	2001	No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease.	Control:44 unrelated controls (blood donors):Greek;Case:48 unrelated bipolar patients:Greek										
123683	Y	schizophrenia	PSYCH	PSY	Mood Disorders|Schizophrenia	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou, G.  et al. 2001	11287792				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			CDC GDPinfo	2558	Hs.24969			Neuropsychobiology. 2001 ;43(3):141-4	Association between GABA-A Receptor Alpha 5 Subunit Gene Locus and Schizophrenia of a Later Age of Onset		137142	16830	2	2001	These results suggest that common pathophysiological mechanisms may possibly underlie affective disorders and schizophrenia, at least in a subgroup of patients.	Case:46 schizophrenic patients:Greek;Control:50 healthy individuals, unrelated:Greek										
123684	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Otani, K.  et al. 2005	15882799				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2		Japan	CDC GDPinfo	2558	Hs.24969			Neuroscience letters. 2005 Jun;381(2-Jan):108-13	The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder.		137142	16831	2	2005	These results suggest that the GABRA5 gene may confer susceptibility to bipolar I disorder.	Control:controls;Case bipolar I and II disorder patients										
123679	Y	schizophrenia	PSYCH	PSY	Mood Disorders|Schizophrenia	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou G et al. 2001	11287792				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			KGB	2558	Hs.24969			Neuropsychobiology. 2001 ;43(3):141-4	Association between GABA-A receptor alpha 5 subunit gene locus and schizophrenia of a later age of onset.		137142	2744	1	2001	These results suggest that common pathophysiological mechanisms may possibly underlie affective disorders and schizophrenia, at least in a subgroup of patients.	Case:46 schizophrenic patients:Greek;Control:50 healthy individuals, unrelated:Greek										
123680	Y	major depression	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Oruc L et al. 1997	9267853				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			KGB	2558	Hs.24969			Neuropsychobiology. 1997 ;36(2):62-4	Positive association between the GABRA5 gene and unipolar recurrent major depression.		137142	2745	1	1997	Our results suggest a possible involvement of this gene in unipolar but not in bipolar disorder.											
123681	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou GN et al. 1998	9514592				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			KGB	2558	Hs.24969			American journal of medical genetics. 1998 Feb;81(1):73-80	Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder.		137142	2746	1	1998	The presence or absence of the 282-bp allele in the genotype of BP patients was not shown to influence the age of onset and the overall clinical severity, but was found to be associated with a preponderance of manic over depressive episodes in the course of the illness.	48 bipolar patients (BP), 40 unipolar patients (UP), and 50 healthy individuals, age- and sex-matched to the patients.										
123676	N	suicide	PSYCH	PSY		X	Xq28	GABRA3	151087185	151370486		Baca-Garcia, E.  et al. 2004	14751442				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2	Spanish		CDC GDPinfo	2556	Hs.123024			Progress in neuro-psychopharmacology & biological psychiatry. 2004 Mar;28(2):409-12	Lack of association between polymorphic variations in the alpha 3 subunit GABA receptor gene (GABRA3) and suicide attempts.		305660	16829	2	2004	This study can rule out even small size effects in the total sample and suggests a lack of association between GABRA3 polymorphism and suicide attempt, in the Spanish population.	Case:184 suicide attempters:Spain;Control:275 control blood donors										
123677		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	4	4p12	GABRA4	46615673	46690337		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000809.2		United States	CDC GDPinfo	2557	Hs.248112			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		137141	21496	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123678		bipolar disorder	PSYCH	PSY	Bipolar Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Papadimitriou GN et al. 2001	11378843				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			KGB	2558	Hs.24969			American journal of medical genetics. 2001 May;105(4):317-20	GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.		137142	2743	1	2001	No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease.	Control:44 unrelated controls (blood donors):Greek;Case:48 unrelated bipolar patients:Greek										
123673	Y	depressive disorder, major	PSYCH	PSY	Bipolar Disorder	X	Xq28	GABRA3	151087185	151370486		Henkel, V.  et al. 2004	15048654				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			CDC GDPinfo	2556	Hs.123024			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):82-7	The gamma amino butyric acid (GABA) receptor alpha-3 subunit gene polymorphism in unipolar depressive disorder: A genetic association study		305660	10779	2	2004	The results of our study indicate that GABRA 3 gene might also be involved in the genetic pathophysiology of unipolar major depressive disorder (at least in female patients), even if the findings do not support a predominant role of GABRA 3.	Control:151 healthy subjects;Case:201 German unipolar depressive patients										
123674	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq28	GABRA3	151087185	151370486		Papadimitriou, G. N.  et al. 2001	11378843				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			CDC GDPinfo	2556	Hs.123024			American journal of medical genetics. 2001 May;105(4):317-20	GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.		305660	16827	2	2001	No differences in allelic frequencies between bipolar patients and controls were found for GABRB3, while this locus and GABRA5 did not seem to be in significant linkage disequilibrium. In conclusion, the GABRB3 CA-repeat polymorphism we investigated does not present the observed association between bipolar affective illness and GABRA5. This could be due to higher mutation rate in the GABRB3 CA-repeat polymorphism, but it might also signify that GABRA5 is the gene actually associated with the disease.	Control:44 unrelated controls (blood donors):Greek;Case:48 unrelated bipolar patients:Greek										
123675	N	affective disorder	PSYCH	PSY	Affective Disorders, Psychotic	X	Xq28	GABRA3	151087185	151370486		Massat, I.  et al. 2001	11602034				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			CDC GDPinfo	2556	Hs.123024			The international journal of neuropsychopharmacology. 2001 Sep;4(3):273-8	Lack of association between GABRA3 and unipolar affective disorder: a multicentre study.		305660	16828	2	2001	Our negative results suggest that GABRA3 does not confer susceptibility nor is it in linkage disequilibrium with another close gene involved in the genetic aetiology of UPAD.	Case:106 unipolar affective disorder patients;Control:212 not otherwise specified										
123670	N	manic-depressive illness	PSYCH	PSY	Bipolar Disorder	X	Xq28	GABRA3	151087185	151370486	n	Puertollano R et al. 1995	8546157				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			KGB	2556	Hs.123024			American journal of medical genetics. 1995 Oct;60(5):434-5	Lack of association between manic-depressive illness and a highly polymorphic marker from GABRA3 gene.		305660	2742	1	1995	We have not found significant differences between controls and patients in allele frequencies or genotypes.											
123671		bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq28	GABRA3	151087185	151370486		Massat I et al. 2002	11840313				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			KGB	2556	Hs.123024			Molecular psychiatry. 2002 ;7(2):201-7	Excess of allele1 for alpha3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentric association study.		305660	7597	1	2002	Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD.	Case:185 bipolar affective disorder patients;Control:370:controls										
123672		bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq28	GABRA3	151087185	151370486		Massat, I.  et al. 2002	11840313				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			CDC GDPinfo	2556	Hs.123024			Molecular psychiatry. 2002 ;7(2):201-7	Excess of allele1 for alpha3 subunit GABA receptor gene (GABRA3) in bipolar patients: a multicentricassociation study.		305660	10778	2	2002	Our findings suggest that the GABRA3 polymorphism may confer susceptibility to or may be in linkage disequilibrium with another gene involved in the genetic etiology of BPAD.	Case:185 bipolar affective disorder patients;Control:370:controls										
123667		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	4	4p12	GABRA2	45946462	46087178		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1		United States	CDC GDPinfo	2555	Hs.116250			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		137140	16848	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123668	N	Unipolar Affective Disorder	PSYCH	PSY	Affective Disorders, Psychotic	X	Xq28	GABRA3	151087185	151370486	n	Massat I 2001	11602034	GABRA3 dinucleotide polymorphism			Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			KGB	2556	Hs.123024			The international journal of neuropsychopharmacology. 2001 Sep;4(3):273-8	Lack of association between GABRA3 and unipolar affective disorder: a multicentre study.		305660	2740	1	2001	Our negative results suggest that GABRA3 does not confer susceptibility nor is it in linkage disequilibrium with another close gene involved in the genetic aetiology of UPAD.	Case:106 unipolar affective disorder patients;Control:212 not otherwise specified										
123669	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	X	Xq28	GABRA3	151087185	151370486		Gade-Andavolu R et al. 1998	9561979				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			KGB	2556	Hs.123024			Archives of neurology. 1998 Apr;55(4):513-6	Association between the gamma-aminobutyric acid A3 receptor gene and multiple sclerosis.		305660	2741	1	1998	 These results suggest the GABRA3 gene may be a risk factor for MS. As with the DRD2 gene, the effect may be mediated through its regulation of prolactin release.											
123663	Y	alcohol effects	CHEMDEPENDENCY	CHEM		4	4p12	GABRA2	45946462	46087178		Pierucci-Lagha, A.  et al. 2005	15702134				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDPinfo	2555	Hs.116250			Neuropsychopharmacology. 2005 Jun;30(6):1193-203	GABRA2 alleles moderate the subjective effects of alcohol, which are attenuated by finasteride.		137140	10777	2	2005	These findings provide preliminary evidence that the risk of alcoholism associated with GABRA2 alleles may be related to differences in the subjective response to alcohol. The effects of finasteride provide indirect evidence for a mediating role of neuroactive steroids in some of the subjective effects of alcohol.	Cohort 27 healthy social drinkers (15 males) completed a randomized, double-blind, placebo-controlled study of high-dose finasteride 	finasteride									
123664	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p12	GABRA2	45946462	46087178		Covault, J.  et al. 2004	15274050				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDPinfo	2555	Hs.116250			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):104-9	Allelic and haplotypic association of GABRA2 with alcohol dependence.		137140	16824	2	2004	These findings replicate and extend recently reported findings, which together underscore the potential contribution of polymorphic variation at the GABRA2 locus to the risk for alcohol dependence.	Control:334 European American controls;Case:446 alcohol dependent European American subjects										
123665	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p12	GABRA2	45946462	46087178		Lappalainen, J.  et al. 2005	15834213				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1	Russian	Russia	CDC GDPinfo	2555	Hs.116250			Alcoholism, clinical and experimental research. 2005 Apr;29(4):493-8	Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population.		137140	16825	2	2005	 These findings suggest that genetic variants of GABRA2 increase risk for AD in the Russian population and provide additional support to the hypothesis that polymorphic variation at the GABRA2 locus plays an important role in predisposing to AD at least in European-ancestry populations.	Control:100 male population controls;Case:113 Russian alcohol dependent males:St. Petersburg, Russia										
123660		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	5	5q34-q35	GABRA1	161206982	161258992		Foley, P. F.  et al. 2004	15542698				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Caucasian		CDC GDPinfo	2554	Hs.175934			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		137160	21495	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
123661		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q34-q35	GABRA1	161206982	161258992		Dick, D. M.  et al. 2003	12766633				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDPinfo	2554	Hs.175934			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		137160	27426	2	2003	Review article											
123662	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4p12	GABRA2	45946462	46087178	P=.000000022	Edenberg HJ 2004	15024690				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			KGB	2555	Hs.116250			American journal of human genetics. 2004 Apr;74(4):705-14	Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations.		137140	2739	1	2004	The very strong association of GABRA2 with both alcohol dependence and the beta frequency of the electroencephalogram, combined with biological evidence for a role of this gene in both phenotypes, suggest that GABRA2 might influence susceptibility to alcohol dependence by modulating the level of neural excitation.											
123657		seizures	NEUROLOGICAL	NEUR	Epilepsy, Absence	5	5q34-q35	GABRA1	161206982	161258992		Ito, M.  et al. 2005	15955415				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Japanese	Japan	CDC GDPinfo	2554	Hs.175934			Neuroscience letters. 2005 Aug;383(3):220-4	Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.		137160	16823	2	2005												
123658	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q34-q35	GABRA1	161206982	161258992		Chang, Y. T.  et al. 2002	12232773				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Taiwanese	Taiwan	CDC GDPinfo	2554	Hs.175934			Molecular psychiatry. 2002 ;7(8):828-9	Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han.		137160	16834	2	2002	These LD findings, together with the association results, suggest that the GABRA6 and GABRA1 genes account for alcohol susceptibility in Han and exert their genetic influences in a somewhat dominant and synergistic fashion.	Control:149 subjects who had never drunk or only occasionally drank small quantities, and were matched to the cases by ethnicity and sex;Case:158 alcohol dependent Taiwanese Han:Taiwan										
123659		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q34-q35	GABRA1	161206982	161258992		Petryshen, T. L.  et al. 2005	16172613				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDPinfo	2554	Hs.175934			Molecular psychiatry. 2005 Dec;10(12):1074-88, 1057	Genetic investigation of chromosome 5q GABA(A) receptor subunit genes in schizophrenia.		137160	16836	2	2005												
123654		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q34-q35	GABRA1	161206982	161258992		Winterer, G.  et al. 2003	12645817				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDPinfo	2554	Hs.175934			Behavior genetics. 2003 Jan;33(1):15-Jul	Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients.		137160	16820	2	2003	It is concluded that this particular association may only be observable under physiologic conditions and that alpha low voltage in alcohol-dependent subjects is under the control of either different genes or that it is related to the disease process.	Control:114 normal subject;Case:128 patients suffering from alcoholism										
123655		epilepsy, juvenile myoclonic	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile|Epilepsy, Generalized|Genetic Predisposition to Disease	5	5q34-q35	GABRA1	161206982	161258992		Kapoor, A.  et al. 2003	14631097				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Indian	India	CDC GDPinfo	2554	Hs.175934			Journal of genetics. 2003 Apr-Aug;82(2-Jan):17-21	Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India		137160	16821	2	2003	One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (chi-square = 11.44, d.f. = 1, P = 0.0007), suggesting genetic association between JME and genes located in the proximity of the DNA marker.	Control matched population controls;Case juvenile myoclonic epilepsy probands										
123656	Y	depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	5	5q34-q35	GABRA1	161206982	161258992		Horiuchi, Y.  et al. 2004	14706423				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDPinfo	2554	Hs.175934			Biological psychiatry. 2004 Jan;55(1):40-5	Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders.		137160	16822	2	2004	 These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders.	Case:125/147 Japanese patients with bipolar disorder (n=125) and patients with depressive disorders (n=147);Control:191 healthy controls										
123651		alcohol-dependence	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q34-q35	GABRA1	161206982	161258992		Winterer G et al. 2003	12645817				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			KGB	2554	Hs.175934			Behavior genetics. 2003 Jan;33(1):15-Jul	Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients.		137160	7713	1	2003	It is concluded that this particular association may only be observable under physiologic conditions and that alpha low voltage in alcohol-dependent subjects is under the control of either different genes or that it is related to the disease process.	Control:114 normal subject;Case:128 patients suffering from alcoholism										
123652	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q34-q35	GABRA1	161206982	161258992		Imai K et al. 2002	12210273				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			KGB	2554	Hs.175934			American journal of medical genetics. 2002 Aug;114(6):605-8	Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia.		137160	7714	1	2002	These data did not support our hypothesis that polymorphisms of the GABA(B) receptor gene may confer vulnerability for schizophrenia.	Control:100 healthy controls;Case:102 unrelated schizophrenic patients										
123653	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q34-q35	GABRA1	161206982	161258992		Imai, K.  et al. 2002	12210273				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDPinfo	2554	Hs.175934			American journal of medical genetics. 2002 Aug;114(6):605-8	Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia.		137160	10776	2	2002	These data did not support our hypothesis that polymorphisms of the GABA(B) receptor gene may confer vulnerability for schizophrenia.	Control:100 healthy controls;Case:102 unrelated schizophrenic patients										
123648	N	Major Psychoses	PSYCH	PSY	Psychotic Disorders	5	5q34-q35	GABRA1	161206982	161258992	n	Serretti A et al. 1999	10050966			coding sequence	Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Italian (Caucasian)		Serretti	2554	Hs.175934	major psychoses		American journal of medical genetics. 1999 Feb;88(1):44-9	No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses		137160	2736	1	1999		Case:SKZ=162; BP=152; UP=83; DELUSIONAL=56; NOS:8										
123649	N	mood disorders	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder	5	5q34-q35	GABRA1	161206982	161258992	n	Serretti A et al. 1998	10512150			coding sequence	Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Caucasian		Serretti et al. 1999	2554	Hs.175934	BP and Major depressive		Psychiatry research. 1999 Jul;87(1):19-Jul	Dopamine receptor D2, D4, GABAA Alpha-1 subunit genes and response to lithium prophylaxis in mood disorders		137160	2737	1	1998		Case:125										
123650	Y	mood disorder	PSYCH	PSY	Mood Disorders	5	5q34-q35	GABRA1	161206982	161258992		Horiuchi Y 2004	14706423			haplotype	Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Japanese		KGB	2554	Hs.175934			Biological psychiatry. 2004 Jan;55(1):40-5	Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders.		137160	2738	1	2004	 These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders.	Case:125/147 Japanese patients with bipolar disorder (n=125) and patients with depressive disorders (n=147);Control:191 healthy controls										
123645		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	6	6p21.31	GABBR1	29631386	29708839		Tan, N. C.  et al. 2005	15857448				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1		Australia|Italy	CDC GDPinfo	2550	Hs.167017			Epilepsia. 2005 May;46(5):778-80	Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?		603540	16819	2	2005	 We did not replicate the reported associations between the c.1465G-->A variant and susceptibility to TLE. We suggest that the initial positive association may be due to undetected population stratification; the importance of genomic control is emphasized. Population-specific effects also may play a role, and we highlight the need to demonstrate an in vitro functional effect to give biologic meaning to any proposed association.	Control:164 healthy controls;Case:234 patients with temporal lobe epilepsy										
123646		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.31	GABBR1	29631386	29708839		Wieczorek, S.  et al. 2004	15309313				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDPinfo	2550	Hs.167017			Journal of molecular medicine (Berlin, Germany). 2004 Oct;82(10):696-705	Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.		603540	26014	2	2004	These results, although exploratory and still to be confirmed in independent samples, support a complex pathogenetic model for narcolepsy, including disturbances of neurotransmission rather than involvement of autoimmunity.	Cohort 254 narcolepsy subjects 										
123647	N	mood disorder.	PSYCH	PSY	Sleep Initiation and Maintenance Disorders|Genetic Predisposition to Disease|Mood Disorders|Bipolar Disorder|Somatoform Disorders	5	5q34-q35	GABRA1	161206982	161258992	n	Serretti A et al. 1998	9861645				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Italian (Caucasian)	Italy	Serretti	2554	Hs.175934	depressive symptomatology		Psychiatric genetics. 1998 ;8(4):251-4	GABAA alpha-1 subunit gene not associated with depressive symptomatology in mood disorders.		137160	2735	1	1998		Case:67										
123643	N	epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Seizures, Febrile|Syndrome|Genetic Predisposition to Disease	6	6p21.31	GABBR1	29631386	29708839		Ma, S.  et al. 2005	15799783				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDPinfo	2550	Hs.167017			BMC medical genetics [electronic resource]. 2005 Mar;6:13	The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.		603540	16817	2	2005	 Our results indicate that TLE preceded by FS is not associated with the polymorphisms or mutations in the GABBR1 gene, including the G1465A polymorphism. The proportion of TLE patients with FS in the original study, reporting this positive association, did not differ between allele A negative and positive cases. Thus, our failure to reproduce this result is likely applicable to all non-lesional TLE epilepsies.	Control individuals from two independent matched control:groups;Case:120 unrelated individuals with temporal lobe epilepsy										
123644	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.31	GABBR1	29631386	29708839		Zai, G.  et al. 2005	15820424				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDPinfo	2550	Hs.167017			European neuropsychopharmacology. 2005 May;15(3):347-52	Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia.		603540	16818	2	2005	Further investigations of the role of GABBR1 in SCZ are warranted.	Control:150 healthy controls;Case:150 unrelated schizophrenic patients										
123640	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	6	6p21.31	GABBR1	29631386	29708839		Anaya, M.  et al. 2001	11844143				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDPinfo	2550	Hs.167017			Tissue antigens. 2001 Nov;58(5):324-8	Linkage disequilibrium of HLA-A11 and A1 with one of the polymorphisms of the gamma-aminobutyric acid receptor type B.		603540	10773	2	2001	The frequency of the polymorphism did not differ between patients and controls.	Control:118 normal Caucasians New England;Case:161 Caucasian epileptic patients:USA										
123641		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	6	6p21.31	GABBR1	29631386	29708839		Salzmann, A.  et al. 2005	15946333	(G1465A)			Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDPinfo	2550	Hs.167017			Epilepsia. 2005 Jun;46(6):931-3	GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy.		603540	10774	2	2005	 The association between the variant G1465A and the sample of patients could not be replicated, so these results exclude a major effect of this polymorphism in the susceptibility to nonlesional TLE. Larger samples should be tested to determine whether the G1465A in exon 7 of the GABA(B)(1) receptor gene is a susceptibility factor for nonlesional TLE.											
123642	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	6	6p21.31	GABBR1	29631386	29708839		Lu, J.  et al. 2003	12770685				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1	Chinese	China	CDC GDPinfo	2550	Hs.167017			Neuroscience letters. 2003 Jun;343(3):151-4	The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population.		603540	16815	2	2003	We postulate that the GABBR1 gene might not be a susceptibility gene for CAE at least in the Chinese population.	Case:96 childhood absence epilepsy cases;Control:96 normal controls										
123637		hyperbilirubinemia	METABOLIC	MET	Anemia, Hemolytic, Congenital Nonspherocytic|Gilbert Disease|Jaundice, Neonatal|Jaundice	X	Xq28	G6PD	153412799	153428981		Costa, E.  et al. 2002	12680285				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Acta Med Port. 2002 Nov-Dec;15(6):409-12	[Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]		305900	20089	2	2002	It was not possible to assess the influence of abnormal alleles in the severity of the neonatal hyperbilirubinemia. However, these abnormal alleles did not account for the severity of jaundice in children who presented variants related to CNSHA, since 5 were treated with an exchange transfusion and none presented abnormal alleles.	Cohort 20 children with G6PD deficiency 										
123638	Y	delayed onset of glycogenosis type II.	OTHER	OTH	Glycogen Storage Disease Type II	17	17q25.2-q25.3	GAA	75689949	75708274		Boerkoel CF et al. 1995	7717400			splice variant	Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000152.2			KGB	2548	Hs.1437			American journal of human genetics. 1995 Apr;56(4):887-97	Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.		606800	2734	1	1995												
123639		glycogen storage disease	METABOLIC	MET	Glycogen Storage Disease Type II	17	17q25.2-q25.3	GAA	75689949	75708274		Chamoles, N. A.  et al. 2004	15313146				Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000152.2			CDC GDPinfo	2548	Hs.1437			Clinica chimica acta; international journal of clinical chemistry. 2004 Sep;347(2-Jan):97-102	Glycogen storage disease type II: enzymaticscreening in dried blood spots on filter paper.		606800	16814	2	2004	 We developed a simple and noninvasive screening method for glycogen storage disease II. The method could be incorporated into newborn screening.	Case samples from glycogen storage disease II patients and obligate heterozygotes;Control:controls										
123634		G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Jiang, W.  et al. 2005	16331553				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):607-11	[Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants.]		305900	16813	2	2005	 DHPLC is of great advantage to screen the G6PD deficient variants with accuracy, convenience, automation and less cost, and significantly to identify the female heterozygote and clinical type IV individuals with G6PD deficiency.											
123635		sickle cell anemia; G6PD deficiency	HEMATOLOGICAL	HEM	Malaria, Falciparum|Sickle Cell Trait|Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Moormann, A. M.  et al. 2003	15307413				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Kenya	CDC GDPinfo	2539	Hs.461047			Transactions of the Royal Society of Tropical Medicine and Hygiene. 2003 Sep-Oct;97(5):513-4	Frequencies of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency differ in highland and nearby lowland malaria-endemic areas of Kenya.		305900	17089	2	2003	Lack of protective polymorphisms may contribute to morbidity and mortality during outbreaks of malaria in the highlands.	Cohort malaria-holoendemic lowland and highland area subjects Kenya 										
123636		hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	X	Xq28	G6PD	153412799	153428981		Huang, M. J.  et al. 2002	12439228				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Pharmacogenetics. 2002 Nov;12(8):663-6	Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia		305900	20087	2	2002	Our data suggest that pronounced hyperbilirubinemia in G6PD-deficient male adults is attributable to the coinheritance of homozygous variation in the gene.	Cohort 115 adults with unconjugated hyperbilirubinemia 										
123630	N	diabetes, type 2; diabetes	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Diabetic Ketoacidosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	X	Xq28	G6PD	153412799	153428981		Sobngwi, E.  et al. 2005	15914531				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Africa, Western|France	CDC GDPinfo	2539	Hs.461047			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4446-51	High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes.		305900	16809	2	2005	 This study suggests that 1) G6PD deficiency alone is not causative of KPD; and 2) alterations in genes controlling both insulin secretion and G6PD-mediated antioxidant defenses may contribute to the predisposition to KPD in West Africans.	Case:100/59 individuals from an extended population of KPD (n =:100), T2DM (n = 59);Control:55 normoglycemic controls;Case:59/59 hospitalized West Africans with KPD (n = 59), type 2 diabetes (T2DM, n = 59);Control:85 controls from the extended population										
123631		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Malaria, Vivax|Elliptocytosis, Hereditary|Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Shimizu, H.  et al. 2005	16059744				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Indonesia	CDC GDPinfo	2539	Hs.461047			Journal of human genetics. 2005 ;50(8):420-4	Glucose-6-phosphate dehydrogenase deficiency and Southeast Asian ovalocytosis in asymptomatic Plasmodium carriers in Sumba island, Indonesia.		305900	16810	2	2005												
123632		G6PD deficiency	METABOLIC	MET	Malaria|Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Matsuoka, H.  et al. 2005	16136268				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Journal of human genetics. 2005 ;50(9):468-72	Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the mostcommon variant in the Cambodian population.		305900	16811	2	2005												
123627		G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Du, C.  et al. 1997	15625830				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Chinese		CDC GDPinfo	2539	Hs.461047			Zhonghua xue ye xue za zhi. 1997 Oct;18(10):535-7	[A case of nt 1004C --> A G6PD gene mutation in Yunnan Han people]		305900	16806	2	1997	 This mutation is the second case in Chinese, and the first case in Yunnan province.	Cohort 823 Chinese Han individuals Yunnan, China 										
123628		G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Xiu, J.  et al. 2005	15748456				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Feb;13(1):147-50	[G6PD Gene Mutations in Shui people in Sandu of Guizhou]		305900	16807	2	2005		Cohort 1,090 Shui people from the general people belonging to Sandu of Guizhou China 										
123629		hyperbilirubinemia	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Zhang, D. T.  et al. 2005	15766741				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Chinese		CDC GDPinfo	2539	Hs.461047			Clinical biochemistry. 2005 Apr;38(4):390-4	Detection of three common G6PD gene mutations in Chinese individuals by probe melting curves.		305900	16808	2	2005	 This fluorescent melting curve analysis is a simple, rapid, and effective method for clinical diagnosis and screening of G6PD deficiency.	Cohort 57 Chinese samples obtained from two groups of G6PD-deficient individuals 										
123624	N	G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Menounos, P. G.  et al. 2003	12696079			promoter	Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Greece	CDC GDPinfo	2539	Hs.461047			Journal of clinical laboratory analysis. 2003 ;17(3):90-2	Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene.		305900	16803	2	2003	We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus.	Cohort 65 G6PD-deficient individuals 										
123625		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Ozmen, I.  et al. 2004	15558953				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Turkey	CDC GDPinfo	2539	Hs.461047			Journal of enzyme inhibition and medicinal chemistry. 2004 Aug;19(4):355-60	Investigation of the mutation points and effects of some drugs on glucose-6-phosphate dehydrogenase-deficient people in the Erzurum region.		305900	16804	2	2004	Although remifentanil hydrochloride, fentanyl citrate (I50 values; 1.45mM and 6.1 mM, respectively) inhibited the activity of the enzyme belonging to the healthy person, they did not alter enzyme activity on two of the three persons with G6PD deficiency. Other drugs (alfentanil hydrochloride and pethidine hydrochloride) did not effect the enzyme activity of the healthy or G6PD-deficient children.	Control healthy persons;Case:1,183 children aged 0.5-6 years from three samples Erzurum, eastern Anatolia										
123626		G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		He, Y.  et al. 1997	15622766				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Zhonghua xue ye xue za zhi. 1997 Apr;18(4):193-6	[Identification of G6PD gene mutations in several nationalities from Yunnan province]		305900	16805	2	1997	 The mutation probably had been prevalent before the emergence of these national minorities. The approximate rate of G6PD gene mutations provided in Yunnan province may, in some respects, help to interpret the molecular evolution.	Cohort 29 G6PD patients Yunan province, China 										
123621		G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Liu, J.  et al. 2000	11876979				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDPinfo	2539	Hs.461047			Zhonghua xue ye xue za zhi. 2000 Apr;21(4):190-1	[Comparative study of three common G6PD gene mutations in Yao and Han People in Guangxi]		305900	16800	2	2000	 The main G6PD mutations in Yao people were the same with Han people in Guangxi, but G1376T mutation was higher than that in Han people. The C1311T mutation in Yao people in Guangxi was reported for the first time.	Case:71 G6PD deficient individuals (34 of Yao people, 37 from Han people)										
123622		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Yang, Z.  et al. 2000	11877026				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		China	CDC GDPinfo	2539	Hs.461047			Zhonghua xue ye xue za zhi. 2000 Oct;21(10):509-11	[The preliminary study on the gene mutations of sixty patients with G6PD deficiency in Yunnan province]		305900	16801	2	2000	 The G6PD gene in Yunnan people is heterogeneous. Research of G6PD gene mutation types may provide some useful data for clinical diagnosis and prevention of G6PD deficiency, and for human genetic study.	Case:60 patients with G6PD deficiency										
123623		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Jaundice, Neonatal	X	Xq28	G6PD	153412799	153428981		Ainoon, O.  et al. 2003	12497642				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Malaysian	Malaysia	CDC GDPinfo	2539	Hs.461047			Human mutation. 2003 Jan;21(1):101	Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.		305900	16802	2	2003	Our findings together with other preliminary data on the presence of the Mediterranean variant in this region provide evidence of strong Arab influence in the Malay Archipelago. Copyright 2002 Wiley-Liss, Inc.	Cohort 86 cord blood samples on 86 male Malay neonates diagnosed as G6PD deficiency in the National University of Malaysia Hospital Malaysia 										
123618		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Li, K. C.  et al. 1999	11400793				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Hong Kong	CDC GDPinfo	2539	Hs.461047			The Southeast Asian journal of tropical medicine and public health. 1999 ;30 Suppl 2:79-83	Adequacy and pitfalls of G6PD deficiency counseling in Hong Kong.		305900	16797	2	1999	The findings revealed that though telephone counseling had its shortcoming it served the target group effectively. Telephone counseling is still the method of choice for the G6PD deficiency counseling in this locality.	Cohort >300 parents on infants screened through the Neonatal Screening Unit of Clinical Genetic Service Hong Kong 										
123619		hyperbilirubinemia	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Iwai, K.  et al. 2001	11499668				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Asia, Southeastern	CDC GDPinfo	2539	Hs.461047			Human genetics. 2001 Jun;108(6):445-9	Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.		305900	16798	2	2001	presentation of glucose-6-phosphate dehydrogenase mutation frequencies in Southeast Asia	Cohort 4317 participants (2019 males, 2298 females) from 16 ethnic groups Myanmar, Lao in Laos, and Amboinese in Indonesia 										
123620		G6PD deficiency	METABOLIC	MET	Metabolism, Inborn Errors|Jaundice, Neonatal	X	Xq28	G6PD	153412799	153428981		Nuchprayoon, I.  et al. 2002	11793482				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	non-Chinese Southeast Asian	Thailand	CDC GDPinfo	2539	Hs.461047			Human mutation. 2002 Feb;19(2):185	Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the mostcommon deficiency variant in the Thai population.		305900	16799	2	2002	With the data from other Southeast Asian ethnic groups such as Laotians, G6PD Viangchan (871G>A) is probably the most common variant in non-Chinese Southeast Asian population	Cohort 522 Thai cord blood samples (male=350, female=172) Bangkok, Thailand 										
123615	Y	malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	X	Xq28	G6PD	153412799	153428981		Mombo, L. E.  et al. 2003	12641410				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Gabon	CDC GDPinfo	2539	Hs.461047			The American journal of tropical medicine and hygiene. 2003 Feb;68(2):186-90	Human genetic polymorphisms and asymptomatic Plasmodium falciparum malaria in Gabonese schoolchildren.		305900	12318	2	2003	We conclude that  G6PD A- heterozygous females are protected against all forms of P. falciparum malaria, and that the TNFalpha(-238A) allele confers protection against clinical malaria.	Cohort 158 Gabonese schoolchildren 										
123616		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Cai, W.  et al. 2000	11024211				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Chinese	China	CDC GDPinfo	2539	Hs.461047			Zhonghua yi xue yi chuan xue za zhi. 2000 Oct;17(5):326-8	1376G-->T mutation of G6PD gene in Han and Li nationalities in Hainan, China.		305900	16795	2	2000	 1376G-->T is a common mutation which causes G6PD deficiency in the Han nationality and the Li nationality in Hainan, China. Based on the phylogenetic tree of populations in China, these results indicate that the mutation might occur prior to the divergence of the Han and Li nationalities. It is of significance to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.	Cohort 59/32 59 Han nationality cases and 32 Li nationality cases of G6PD Hainan, China 										
123617		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Arambula, E.  et al. 2000	11042039				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Mexican	Mexico	CDC GDPinfo	2539	Hs.461047			Blood cells, molecules & diseases. 2000 Aug;26(4):387-94	Glucose-6-phosphate dehydrogenase mutations and haplotypes in Mexican Mestizos.		305900	16796	2	2000	The results show that although G-6-PD deficiency is heterogeneous at the DNA level in Mexico, only	Cohort 1985 unrelated male subjects from the general population four states of the Pacific coast 										
123612		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	X	Xq28	G6PD	153412799	153428981		Lucarelli P 1978	621091				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			Y Wang	2539	Hs.461047			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		305900	2733	1	2004												
123613		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Samilchuk, E.  et al. 2003	12972027			promoter	Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Kuwait	CDC GDPinfo	2539	Hs.461047			Blood cells, molecules & diseases. 2003 Sep-Oct;31(2):201-5	Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis.		305900	10772	2	2003	Thus, 4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter.	Cohort 1,080 Kuwaiti male blood donors 										
123614		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	X	Xq28	G6PD	153412799	153428981		Upperman, J. S.  et al. 2005	15718915				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	African American		CDC GDPinfo	2539	Hs.461047			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		305900	11900	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
123608	Y	chronic non-spherocytic haemolytic anaemia.	HEMATOLOGICAL	HEM	Anemia, Hemolytic, Congenital Nonspherocytic|Chronic Disease	X	Xq28	G6PD	153412799	153428981		Filosa S et al. 1994	7959695				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			KGB	2539	Hs.461047			Human genetics. 1994 Nov;94(5):560-2	A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.		305900	2729	1	1994												
123609		chronic nonspherocytic anemia.	HEMATOLOGICAL	HEM	Anemia, Hemolytic, Congenital Nonspherocytic	X	Xq28	G6PD	153412799	153428981		Saad ST et al. 1997	9298828				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Brazil	KGB	2539	Hs.461047			Human mutation. 1997 ;10(3):245-7	G6PD sumare: a novel mutation in the G6PD gene (1292 T-->G) associated with chronic nonspherocytic anemia.		305900	2730	1	1997												
123611		anemia	HEMATOLOGICAL	HEM	Infection|Anemia|Glucosephosphate Dehydrogenase Deficiency|Granulomatous Disease, Chronic	X	Xq28	G6PD	153412799	153428981		Agudelo-Florez P 2004	14978696				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			KGB	2539	Hs.461047			American journal of hematology. 2004 Mar;75(3):151-6	Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections.		305900	2732	1	2004												
123605		glycogen storage disease	METABOLIC	MET	Glycogen Storage Disease Type I	17	17q21	G6PC	38306340	38318912		Ekstein, J.  et al. 2004	15316959				Glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000151.1	Jewish		CDC GDPinfo	2538	Hs.212293			American journal of medical genetics Part A. 2004 Aug;129(2):162-4	Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.		232200	16794	2	2004	This carrier frequency translates into a predicted disease prevalence of 1 in 20,000, five times higher than for the general Caucasian population, confirming a founder effect and elevated frequency of GSDIa in the AJ population. We observed no carriers of the Q347X mutation. Among the 30 GSDIa affected AJ subjects, all were homozygous for R83C. These results indicate that R83C is the only prevalent mutation for GSDIa in the Ashkenazi population.	Cohort 20,719/4,290 Ashkenazi Jewish subjects tested for the R83C mutation (n=20,719) and for the Q347X mutation (n=4,290) Cohort 30 Ashkenazi Jewish Glycogen storage disease type Ia individuals 										
123606	Y	haemoglobinopathies	OTHER	OTH	Malaria|Anemia, Sickle Cell|Glucosephosphate Dehydrogenase Deficiency|Hemoglobinopathies|Thalassemia	X	Xq28	G6PD	153412799	153428981		Ayoub EM et al. 1986	3699836				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3		Saudi Arabia	KGB	2539	Hs.461047			Human heredity. 1986 ;36(2):107-12	Association of red cell glucose-6-phosphate dehydrogenase with haemoglobinopathies.		305900	2727	1	1986												
123607	Y	undetectable glucose-6-phosphate dehydrogenase enzyme activity	OTHER	OTH		X	Xq28	G6PD	153412799	153428981		Maeda M et al. 1992	1353664				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			KGB	2539	Hs.461047			American journal of human genetics. 1992 Aug;51(2):386-95	Molecular abnormalities of a human glucose-6-phosphate dehydrogenase variant associated with undetectable enzyme activity and immunologically cross-reacting material.		305900	2728	1	1992												
123602		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	22	22q13.2-q13.31	XRCC6	40347240	40389998		Fu, Y. P.  et al. 2003	12750264				X-ray repair complementing defective repair in Chinese hamster cells 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001469.3			CDC GDPinfo	2547	Hs.292493			Cancer research. 2003 May;63(10):2440-6	Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.		152690	27373	2	2003	Based on comprehensive NHEJ gene profiles, this study provides new insights to suggest the role of the NHEJ pathway in breast cancer development and supports the possibility that breast cancer is initiated by estrogen exposure, which causes DNA DSBs.	Control:379 healthy controls;Case:254 primary breast cancer patients										
123603		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q13.2-q13.31	XRCC6	40347240	40389998		Lee, K. M.  et al. 2005	15958648				X-ray repair complementing defective repair in Chinese hamster cells 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001469.3			CDC GDPinfo	2547	Hs.292493			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		152690	28031	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
123604	Y	SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	17	17q21	G6PC	38306340	38318912		Forsyth, L.  et al. 2005	15918042				Glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000151.1			CDC GDPinfo	2538	Hs.212293			Journal of molecular medicine (Berlin, Germany). 2005 Aug;83(8):610-8	Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly		232200	10801	2	2005	We identified the first G6PC1 promoter polymorphism, which lowers expression, potentially increasing risk of hypoglycaemia and hence risk of sudden and unexpected death.	Case:126 infants who died suddenly and unexpectedly (78 SIDS, 48 non-SIDS);Control:70 healthy, living infants										
123598	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21	FZD3	28407691	28477880		Ide, M.  et al. 2004	15364045				Frizzled homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017412.2			CDC GDPinfo	7976	Hs.40735			Biological psychiatry. 2004 Sep;56(6):462-5	Genetic and expression analyses of FZD3 in schizophrenia.		606143	16792	2	2004	 Although two prior studies have reported associations using limited numbers of SNPs on FZD3, our intensive study failed to support any major contribution of FZD3 to schizophrenia susceptibility.	Case:540 schizophrenia patients;Control:540 control samples										
123599	N	schizophrenia; bipolar disorder; depression	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	8	8p21	FZD3	28407691	28477880		Hashimoto, R.  et al. 2005	15657645				Frizzled homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017412.2			CDC GDPinfo	7976	Hs.40735			J Neural Transm. 2005 Feb;112(2):303-7	Association study of the frizzled-3 (FZD3) gene with schizophrenia and mood disorders		606143	16793	2	2005	We failed to find significant association in the four SNPs or haplotype analysis. The FZD3 gene might not play a role in conferring susceptibility to major psychosis in our sample.	Case Japanese patients with schizophrenia, bipolar disorder or unipolar depression;Control:controls										
123601		retinopathy	VISION	VIS	Osteoporosis|Vitreoretinopathy, Proliferative	11	11q14.2	FZD4	86334368	86344081		Qin, M.  et al. 2005	15981244				Frizzled homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012193.2			CDC GDPinfo	8322	Hs.591968			Human mutation. 2005 Aug;26(2):104-12	Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.		604579	18083	2	2005												
123595		Alzheimer's disease; schizophrenia	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Schizophrenia	6	6q21	FYN	112089177	112301320		Nakano, Y.  et al. 2004	15098360				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			CDC GDPinfo	2534	Hs.390567			No to shinkei Brain and nerve. 2004 Feb;56(2):153-6	[Analysis of the fyn kinase gene in Alzheimer's disease and schizophrenia]		137025	16789	2	2004	Thus, it is unlikely that these polymorphisms play an important role in the pathogenesis of Alzheimer's disease or schizophrenia.	Control:controls;Case Alzheimer's disease and schizophrenic patients										
123596	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21	FZD3	28407691	28477880		Katsu, T.  et al. 2003	14642436				Frizzled homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017412.2			CDC GDPinfo	7976	Hs.40735			Neuroscience letters. 2003 Dec;353(1):53-6	The human frizzled-3 (FZD3) gene on chromosome 8p21, a receptor gene for Wnt ligands, is associated with the susceptibility to schizophrenia		606143	16790	2	2003	Our data suggest that dysregulation of the Wnt-signaling pathway may be involved in the susceptibility to schizophrenia.	Case patients with schizophrenia;Control:controls										
123597	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21	FZD3	28407691	28477880		Zhang, Y.  et al. 2004	15274031				Frizzled homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017412.2	Chinese	China	CDC GDPinfo	7976	Hs.40735			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):16-9	Positive association of the human frizzled 3 (FZD3) gene haplotype with schizophrenia in Chinese Han population.		606143	16791	2	2004	These results suggested that the FZD3 gene might be involved in the predisposition to schizophrenia.	Case Chinese Han schizophrenic patients;Control control subjects										
123592	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q21	FYN	112089177	112301320		Watanabe, T.  et al. 2004	15082191				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3	Japanese	Japan	CDC GDPinfo	2534	Hs.390567			Neuroscience letters. 2004 Apr;360(2-Jan):109-11	No genetic association between Fyn kinase gene polymorphisms (-93A/G, IVS10+37T/C and Ex12+894T/G) and Japanese sporadic Alzheimer's disease.		137025	10771	2	2004	These results suggest that the Fyn polymorphisms (-93A/G, IVS10+37T/C and Ex12+894T/G) investigated here have no genetic association with sporadic AD.	Control:127 healthy controls;Case:182 Japanese sporadic Alzheimers disease cases										
123593	N	schizophrenia; alcoholism	PSYCH	PSY	Alcoholism|Schizophrenia	6	6q21	FYN	112089177	112301320		Ishiguro, H.  et al. 2000	11121167				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			CDC GDPinfo	2534	Hs.390567			American journal of medical genetics. 2000 Dec;96(6):716-20	Mutation and association analysis of the Fyn kinase gene with alcoholism and schizophrenia.		137025	16787	2	2000	Results of the present study did not provide evidence for the involvement of the genomic Fyn gene mutations in alcoholism or schizophrenia. 	Control:controls;Case:48 unrelated alcoholics (n=48) and schizophrenics:(n=16)										
123594	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q21	FYN	112089177	112301320		Schumann, G.  et al. 2003	14675807				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			CDC GDPinfo	2534	Hs.390567			Biological psychiatry. 2003 Dec;54(12):1422-6	Analysis of genetic variations of protein tyrosine kinase fyn and their association with alcohol dependence in two independent cohorts.		137025	16788	2	2003	 Our results indicate a possible association of alcohol dependence with a genotype of the SNP T137346C of the PTK fyn, with C being the risk allele.	Control:365 unrelated control subjects from two independent:samples;Case:430 alcohol-dependent patients										
123589		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		1	1q21-q22	FY	157439720	157442914		Chiaroni, J.  et al. 2004	15754970				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430			CDC GDPinfo	2532	Hs.153381			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		110700	21494	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
123590	N	schizophrenia	PSYCH	PSY	Alcoholism|Schizophrenia	6	6q21	FYN	112089177	112301320		Ishiguro H et al. 2000	11121167				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			KGB	2534	Hs.390567			American journal of medical genetics. 2000 Dec;96(6):716-20	Mutation and association analysis of the Fyn kinase gene with alcoholism and schizophrenia.		137025	2725	1	2000	Results of the present study did not provide evidence for the involvement of the genomic Fyn gene mutations in alcoholism or schizophrenia. 	Control:controls;Case:48 unrelated alcoholics (n=48) and schizophrenics:(n=16)										
123591	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6q21	FYN	112089177	112301320	n	Ohnuma T et al. 2003	12750000				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			KGB	2534	Hs.390567			Neuroscience letters. 2003 May;343(1):70-2	No genetic association between polymorphisms in the Fyn kinase gene and age of schizophrenic onset.		137025	2726	1	2003												
123586		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21-q22	FY	157439720	157442914		Parasol, N.  et al. 2001	11446431				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430			CDC GDPinfo	2532	Hs.153381			Human biology; an international record of research. 2001 Apr;73(2):307-13	Duffy antigen/receptor for chemokines (DARC):genotypes in Ashkenazi and non-Ashkenazi Jews in Israel.		110700	16783	2	2001	Duffy antigens are receptors for chemokines and bind Plasmodium vivax. Study of Duffy genotypes in additional populations might help in elucidating the possible functional significance of Duffy allele polymorphism.	Case:50 non-Ashkenazi Jews with schizophrenia:Israel;Control:54 non-Ashkenazi Jews without schizophrenia:Israel;Case:59 Ashkenazi Jews with schizophrenia:Israel;Control:66 Ashkenazi Jews without schizophrenia:Israel										
123587		Malaria infection	INFECTION	INF	Malaria	1	1q21-q22	FY	157439720	157442914		Cavasini, C. E.  et al. 2001	11813069				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430		Brazil	CDC GDPinfo	2532	Hs.153381			Revista da Sociedade Brasileira de Medicina Tropical. 2001 Nov-Dec;34(6):591-5	Duffy blood group genotypes among malaria patients in Rond????nia, Western Brazilian Amazon.		110700	16784	2	2001	The Fy x allele, which has recently been associated with very weak erythrocyte expression of Duffy antigen, was not found in local P. vivax patients.	Control:59 non-vivax malaria controls;Case:68 Plasmodium vivax-infected patients:Rondonia, Brazil										
123588		kidney transplant complications	IMMUNE	IMM	Acute Disease|Genetic Predisposition to Disease	1	1q21-q22	FY	157439720	157442914		Mange, K. C.  et al. 2004	15327416				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430	African American		CDC GDPinfo	2532	Hs.153381			Kidney international. 2004 Sep;66(3):1187-92	Duffy antigen receptor and genetic susceptibility of African Americans to acute rejection and delayed function		110700	16785	2	2004	 The susceptibility of African American recipients to acute rejection and to DGF was not confirmed to be associated with DARC alleles or genotype. Future studies should exclude a potential role of donor-related DARC in transplant outcomes.	Cohort 222 African American recipients of cadaveric renal allografts from eight adult transplant centers 										
123583		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	9	9q13-q21.1	FXN	70840163	70878772		Culjkovic, B.  et al. 2000	11121205				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3			CDC GDPinfo	2395	Hs.29978			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		606829	27717	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
123585		Friedreichs ataxia	NEUROLOGICAL	NEUR		1	1q21-q22	FY	157439720	157442914		Castilho, L.  et al. 2004	15569072				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430			CDC GDPinfo	2532	Hs.153381			Vox sanguinis. 2004 Oct;87(3):190-5	A novel FY allele in Brazilians.		110700	10770	2	2004	These findings highlight the importance of establishing the incidence and nature of molecular events that impact on Duffy expression in different populations.	Cohort 361 blood donors (182 of African ancestry and 179 of Caucasian ancestry) Brazil 										
123580	Y	G130V mutation	OTHER	OTH	Friedreich Ataxia|Ataxia|Disease Progression|	9	9q13-q21.1	FRDA	70840163	70878772		McCabe DJ et al. 2002	11843702				frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181425			KGB	2395	Hs.29978			Archives of neurology. 2002 Feb;59(2):296-300	Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene.		606829	2716	1	2002	 This report confirms that compound heterozygous patients with FA who have a GAA expansion and a G130V mutation may present with an ataxic phenotype and that intrafamilial phenotypic variability in these pedigrees can occur. It also emphasizes the importance of performing molecular genetic analysis for the GAA trinucleotide expansion in patients presenting with a spastic paraparesis of undetermined etiology, especially when there is neurophysiologic evidence of a sensory axonal neuropathy.											
123581		Friedreichs ataxia	NEUROLOGICAL	NEUR	Friedreich Ataxia	9	9q13-q21.1	FXN	70840163	70878772		Chattopadhyay, B.  et al. 2004	15180699				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3	Indian	India	CDC GDPinfo	2395	Hs.29978			Annals of human genetics. 2004 May;68(Pt 3):189-95	Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.		606829	16781	2	2004	We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations.	Cohort 6/160 Freidreich ataxia patients (n=6) and ethnically matched normal individuals (n=160) India 										
123582		diabetes, type 2	METABOLIC	MET	Friedreich Ataxia|Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	9	9q13-q21.1	FXN	70840163	70878772		Holmkvist, J.  et al. 2005	15827563				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3		Finland	CDC GDPinfo	2395	Hs.29978			European journal of human genetics. 2005 Jul;13(7):849-55	Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.		606829	16782	2	2005	In conclusions, this study excludes a role of genetic variation within the X25 gene, but instead suggests that genetic variation downstream the X25 gene, may increase risk for T2D.	Control:326 healthy controls;Case:523 individuals with type 2 diabetes										
123576		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19p13.3	FUT3	5793901	5802482		Chen, Y. L.  et al. 2005	16008680				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1		Taiwan	CDC GDPinfo	2525	Hs.169238			Clinical and experimental allergy. 2005 Jul;35(7):926-32	ABO/secretor genetic complex is associated with the susceptibility of childhood asthma in Taiwan.		111100	24460	2	2005	 We concluded that blood group O/secretors (Se/Se) and O/Le(a-b-) were associated with childhood asthma, and may act as one of the predominant factors for environmental triggers of allergy for asthmatic children in Taiwan.											
123578	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q13-q21.1	FXN	70840163	70878772		Shadrina MI et al. 2002	11862710				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3	Moscow	Moscow	KGB	2395	Hs.29978			Molekuliarnaia biologiia. 2002 Jan-Feb;36(1):37-9	Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population trans Sviaz' polimorfnogo trinukleotidnogo povtora (GAA)n v gene Frataksina s sakharnym diabetom tipa 2 v Moscovskoi popul		606829	2714	1	2002												
123579	Y	diabetes, type 2	METABOLIC	MET	Friedreich Ataxia|Diabetes Mellitus, Type 2	9	9q13-q21.1	FXN	70840163	70878772		Ristow M et al. 1998	9588463				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3		United States|Germany	KGB	2395	Hs.29978			Diabetes. 1998 May;47(5):851-4	An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.		606829	2715	1	1998	We conclude that  the X25/frataxin GAA repeat polymorphism is associated with NIDDM in a frequency higher than any other mutation heretofore described. Further studies are needed to elucidate the possible role of frataxin in the pathogenesis of NIDDM.											
123573		Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms	19	19p13.3	FUT3	5793901	5802482		Ikehara, Y.  et al. 2001	11535550				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1		Japan	CDC GDPinfo	2525	Hs.169238			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):971-7	Polymorphisms of two fucosyltransferase genes (Lewis and Secretor genes) involving type I Lewis antigens are associated with the presence of anti-Helicobacter pylori IgG antibody.		111100	21492	2	2001	We conclude that  Se and Le genotypes affect susceptibility to H. pylori infection.	Cohort 239 participants not otherwise specified in abstract 										
123574		H. pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms|Gastritis|Peptic Ulcer|Genetic Predisposition to Disease	19	19p13.3	FUT3	5793901	5802482		Oba-Shinjo, S. M.  et al. 2004	15338364				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1	Japanese	Brazil|Japan	CDC GDPinfo	2525	Hs.169238			Journal of gastroenterology. 2004 Aug;39(8):717-23	Association of Lewis and Secretor gene polymorphisms and Helicobacter pylori seropositivity among Japanese-Brazilians		111100	21493	2	2004	 These results are inconsistent with previous work and may have been modulated by an external factor or some other unidentified factor. Japanese-Brazilians are genotypically the same as Japanese, but their lifestyle is adapted to that of Brazil. Further investigations are necessary to clarify this influence on susceptibility to H. pylori infection.	Cohort 942 healthy volunteer Japanese-Brazilians, who were tested for the presence of anti- H. pylori IgG antibodies 										
123570	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease	19	19p13.3	FUT3	5793901	5802482		Cakir, B.  et al. 2004	14687237				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDPinfo	2525	Hs.169238			Journal of internal medicine. 2004 Jan;255(1):40-51	Association of the Lewis genotype with cardiovascular risk factors and subclinical carotid atherosclerosis: the Atherosclerosis Risk inCommunities (ARIC) study.		111100	16777	2	2004	 The lack of a statistically significant association between Lewis 'genotype' and subclinical atherosclerosis in our data suggests that earlier studies reporting associations at the 'phenotypic' level may reflect aspects of the biology of the Lewis system other than an inherent genetic property.	Case:419 individuals with carotid IMT of >1.0mm:Cohort:761 men and women aged 45-64 years without known clinical atherosclerotic disease;Control:819:controls										
123571		obesity	METABOLIC	MET	Obesity	19	19p13.3	FUT3	5793901	5802482		Hein, H. O.  et al. 2005	15832169				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1		Denmark	CDC GDPinfo	2525	Hs.169238			International journal of obesity (2005). 2005 May;29(5):540-2	The Lewis blood group--a new genetic marker of obesity.		111100	16778	2	2005	The frequency of the Le(a-b-) phenotype may vary substantially in different populations. Identification of this new genetic marker of obesity may, for example, contribute to the explanation of individual and ethnic differences in the prevalence of obesity.	Cohort 3,290 men aged 53-75 y, mean=63 										
123572		H. pylori infection; stomach cancer; peptic ulcer	CANCER	CAN	Helicobacter Infections|Peptic Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	19	19p13.3	FUT3	5793901	5802482		Yei, C. J.  et al. 2005	16097066				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1		Taiwan	CDC GDPinfo	2525	Hs.169238			World journal of gastroenterology. 2005 Aug;11(31):4891-4	Lewis blood genotypes of peptic ulcer and gastric cancer patients in Taiwan.		111100	16779	2	2005	 Lewis blood genotype or phenotype may not play a role in the pathogenesis of H pylori infection. However, bacterial strain differences and the presence of more than one attachment mechanism may limit the value of epidemiological studies in elucidating this matter.											
123567		Le(b) antigen	OTHER	OTH	Helicobacter Infections|Genetic Predisposition to Disease	19	19p13.3	FUT3	5793901	5802482		Serpa, J.  et al. 2003	12730721				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1	Portuguese	Portugal	CDC GDPinfo	2525	Hs.169238			Journal of human genetics. 2003 ;48(4):183-9	Lewis enzyme (alpha1-3/4 fucosyltransferase) polymorphisms do not explain the Lewis phenotype in the gastric mucosa of a Portuguese population.		111100	10766	2	2003	Among the 47 Lewis negative individuals in blood, only nine were also negative in gastric mucosa, suggesting the existence of another alpha 1-4 fucosyltransferase that is responsible for Le(a) and Le(b) synthesis in gastric mucosa.	Cohort 460 asymptomatic or dyspeptic individuals northern Portugal 										
123568		non-secretor status	OTHER	OTH		19	19p13.3	FUT3	5793901	5802482		Jiang, J. M.  et al. 2003	15639865				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDPinfo	2525	Hs.169238			Yi chuan. 2003 May;25(3):258-60	[Analysis of lewis gene polymorphism in high and low incidence area of gastric cancer in shandong province.]		111100	10767	2	2003	This suggests that Linqu and Cangshan populations may share the same genetic background.T59G mutation of Lewis gene could not be used as a genetic marker for Linqu and Cangshan populations and is not relevant to the difference in incidence of gastric cancer between them.	Cohort individuals from Linqu and Cangshan populations Shandong Province 										
123569		H. pylori infection; stomach cancer	CANCER	CAN		19	19p13.3	FUT3	5793901	5802482		Pan, J. M.  et al. 2003	15639866				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDPinfo	2525	Hs.169238			Yi chuan. 2003 May;25(3):261-6	[Analysis of Polymorphisms on Lewis Blood Group Antigen Related SE Gene in the Populations in Shandong with High-risk of Gastric Cancer and Beijing.]		111100	10768	2	2003	We concluded that Shandong population from high-risk area of gastric cancer shared a high distribution of se(w)/se(w) genotype,which could be considered as one of the genetic markers.	Case:69 cancer patients from high-risk area of gastric cancer in Shandong;Control:73/93 non-cancer individuals from high-risk area of gastric cancer in Shandong (n=73) and control individuals from Beijing (n=93)										
123564		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19q13.3	FUT2	53891049	53901019		Chen, Y. L.  et al. 2005	16008680				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3		Taiwan	CDC GDPinfo	2524	Hs.579928			Clinical and experimental allergy. 2005 Jul;35(7):926-32	ABO/secretor genetic complex is associated with the susceptibility of childhood asthma in Taiwan.		182100	21491	2	2005	 We concluded that blood group O/secretors (Se/Se) and O/Le(a-b-) were associated with childhood asthma, and may act as one of the predominant factors for environmental triggers of allergy for asthmatic children in Taiwan.											
123565	N	atherosclerotic disease	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis	19	19p13.3	FUT3	5793901	5802482		Salomaa V et al. 2000	10886491			coding sequence	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149	European Americans (NHLBI Family Heart Study)		KGB	2525	Hs.169238			Journal of internal medicine. 2000 Jun;247(6):689-98	Genetic background of Lewis negative blood group phenotype and its association with atherosclerotic disease in the NHLBI family heart study.		111100	2724	1	2000	 Four specific mutations of fucosyltransferase 3 gene are responsible for the vast majority of Lewis (a-b-) phenotypes in Caucasians. These mutations are common in the population at large and may be associated with increased risk of coronary heart disease. Further studies using larger samples are warranted.											
123566		carotid atherosclerosis	CARDIOVASCULAR	CARD		19	19p13.3	FUT3	5793901	5802482		Cakir, B.  et al. 2002	12424536				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1	African Americans		CDC GDPinfo	2525	Hs.169238			Annals of hematology. 2002 Oct;81(10):558-65	Distribution of Lewis (FUT3)genotype and allele:frequencies in a biethnic United States population.		111100	10765	2	2002	Four specific SNPs of the Lewis genotype are common in the population at large. However, these four SNPs seem to fail to explain the majority of Lewis-negative phenotype in African Americans, given that Lewis-negative genotype prevalence was about one-third of what was expected. Use of rapid DNA sequencing and simultaneous Lewis phenotype determination could avoid the problems associated with haplotype determination and Lewis genotype grouping. Further studies testing SNPs of the Lewisgene are warranted, in particular among African Americans.	Cohort 761 males and females who had no known/detected clinical atherosclerotic disease (577 Caucasians, 184 African Americans) 										
123561	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms|Gastritis|Peptic Ulcer|Genetic Predisposition to Disease	19	19q13.3	FUT2	53891049	53901019		Oba-Shinjo, S. M.  et al. 2004	15338364				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3	Japanese	Brazil|Japan	CDC GDPinfo	2524	Hs.579928			Journal of gastroenterology. 2004 Aug;39(8):717-23	Association of Lewis and Secretor gene polymorphisms and Helicobacter pylori seropositivity among Japanese-Brazilians		182100	10763	2	2004	 These results are inconsistent with previous work and may have been modulated by an external factor or some other unidentified factor. Japanese-Brazilians are genotypically the same as Japanese, but their lifestyle is adapted to that of Brazil. Further investigations are necessary to clarify this influence on susceptibility to H. pylori infection.	Cohort 942 healthy volunteer Japanese-Brazilians, who were tested for the presence of anti- H. pylori IgG antibodies 										
123562		Helicobacter pylori infection	INFECTION	INF		19	19q13.3	FUT2	53891049	53901019		Park, K. U.  et al. 2005	15809881				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3	Korean		CDC GDPinfo	2524	Hs.579928			Annals of hematology. 2005 Oct;84(10):656-60	The fusion allele of the FUT2 (secretor type alpha(1,2)-fucosyltransferase) gene at a high frequency and a new se385 allele in a Korean population.		182100	10764	2	2005	The null alleles of the FUT2 gene are another example of rare alleles occurring with unexpectedly high frequencies in distinct geographic regions or populations.	Cohort 348 random donors Bundang, Korea 										
123558		H. pylori infection	INFECTION	INF		19	19q13.3	FUT2	53891049	53901019		Chang, J. G.  et al. 2002	11916003				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDPinfo	2524	Hs.579928			Journal of human genetics. 2002 ;47(2):60-5	Molecular analysis of mutations and polymorphisms of the Lewis secretor type alpha(1,2)-fucosyltransferase gene reveals that Taiwan aborigines are of Austronesian derivation.		182100	10760	2	2002	The genetic analysis confirms that the origins of Taiwan aborigines are Austronesian and that they are closely related to the Filipino and Indonesian populations. We suggest that mutations or polymorphisms of the FUT2 gene are very good markers for investigating population genetics.	Cohort Taiwan aborigines, Caucasians, Japanese and Thai, Filipino and Indonesian individuals 										
123559		Parkinson's disease	NEUROLOGICAL	NEUR		19	19q13.3	FUT2	53891049	53901019		Zhang, Y.  et al. 2002	12645255				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3	Chinese		CDC GDPinfo	2524	Hs.579928			Yi chuan xue bao. 2002 ;29(11):949-52	[Study of ABO blood group secretor type alpha(1,2)-fucosyltransferase gene polymorphism in Chinese]		182100	10761	2	2002	The fusion gene was not found in the two investigated ethnic groups. The frequencies of G849A nonsense mutation in Shandong Han Chinese and Mongolian of Inner Mongolia individuals were the same, 0.0055.	Cohort 191/208 191 Manchu individuals from Liaoning Province and 208 Mongolian individuals from Inner Mongolia China Cohort 90/90 90 unrelated Han Chinese from Shandong Province and 90 Mongolian from Inner Mongolia China 										
123560		non-secretor status	OTHER	OTH	Peptic Ulcer	19	19q13.3	FUT2	53891049	53901019		Serpa, J.  et al. 2004	15250822				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3	Portuguese	Portugal	CDC GDPinfo	2524	Hs.579928			The Biochemical journal. 2004 Nov;383(Pt. 3):469-74	Two new FUT2 (fucosyltransferase 2 gene) missense polymorphisms, 739G-->A and 839T-->C, are partly responsible for non-secretor status in a Caucasian population from Northern Portugal.		182100	10762	2	2004	By kinetic studies it was demonstrated that the two new FUT2 mutants (739G>A and 839T>C) are almost inactive and are responsible for some non-secretor cases.	Cohort 36 Caucasian non-secretor individuals Northern Portugal 										
123555	Y	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms	19	19q13.3	FUT2	53891049	53901019		Ikehara, Y.  et al. 2001	11535550				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3		Japan	CDC GDPinfo	2524	Hs.579928			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):971-7	Polymorphisms of two fucosyltransferase genes (Lewis and Secretor genes) involving type I Lewis antigens are associated with the presence of anti-Helicobacter pylori IgG antibody.		182100	10757	2	2001	We conclude that  Se and Le genotypes affect susceptibility to H. pylori infection.	Cohort 239 participants not otherwise specified in abstract 										
123556		H. pylori infection	INFECTION	INF		19	19q13.3	FUT2	53891049	53901019		Yu, L. C.  et al. 2001	11606829				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3	Taiwanese		CDC GDPinfo	2524	Hs.579928			Transfusion. 2001 Oct;41(10):1279-84	Polymorphism and distribution of the Secretor alpha(1,2)-fucosyltransferase gene in various Taiwanese populations		182100	10758	2	2001	 The Se genes have a polymorphic distribution among various Taiwanese populations, and this agrees with previous results for Lewis phenotype distributions. The Se(w) allele and the three se alleles are responsible for the Le(a+b+) and Le(a+b-) phenotypes, respectively.	Cohort Taiwanese population groups, including the two major populations, Minnan and Hakka Taiwanese, and 11 indigenous groups Taiwan 										
123557		H. pylori infection	INFECTION	INF		19	19q13.3	FUT2	53891049	53901019		Pang, H.  et al. 2001	11806852				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDPinfo	2524	Hs.579928			Annals of human genetics. 2001 Sep;65(Pt 5):429-37	Polymorphism of the human ABO-Secretor locus (FUT2) in four populations in Asia: indication of distinctAsian subpopulations.		182100	10759	2	2001	The distribution of nonfunctional alleles at the FUT2 locus provided further evidence of human migration among the Asian populations.	Cohort 190 unrelated individuals (40 Tibetan and 53 Tamang from Nepal, 42 Indonesian from Surabaya, and 55 Uygur from Urumqi) 										
123552		blood pressure	CARDIOVASCULAR	CARD		15	15q26.1	FURIN	89212888	89227691		Li JP 2004	15043778			haplotype	Furin (paired basic amino acid cleaving enzyme)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002569.2			KGB	5045	Hs.513153			Chinese medical journal. 2004 Mar;117(3):382-8	The association between paired basic amino acid cleaving enzyme 4 gene haplotype and diastolic blood pressure.		136950	4827	1	2004	 This study for the first time demonstrated that PACE4 gene may play an important role in the regulation of DBP. This association indicates that variations influencing DBP resides in or near this genomic region.											
123553		Parkinson's disease	NEUROLOGICAL	NEUR		19	19q13.3	FUT1	53943079	53950459		Chen, D. P.  et al. 2004	15487706				Fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000148.2	Taiwanese		CDC GDPinfo	2523	Hs.69747			Annals of clinical and laboratory science. 2004 ;34(3):314-8	Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.		211100	10755	2	2004	These findings in the Taiwanese population confirm previous observations in other populations that the Bombay and para-Bombay phenotypes are due to diverse, sporadic, nonfunctional alleles, predominantly ha and hb, leading to H deficiency of red blood cells. In contrast to previous reports of non-prevalent associations of h alleles with para-Bombay phenotype, our results suggest a regional allele preference associated with para-Bombay individuals in Taiwan.	Cohort 250,000 Taiwan blood samples during 5 years Taiwan 										
123554		Parkinson's disease	NEUROLOGICAL	NEUR		19	19q13.3	FUT1	53943079	53950459		Xu, X.  et al. 2005	16331565				Fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000148.2	Chinese		CDC GDPinfo	2523	Hs.69747			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):657-60	[Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population.]		211100	10756	2	2005	 The C35T substitution of FUT1 gene is not a mutation which gives rise to a non-functional h allele responsible for para-Bombay phenotype but a single nucleotide polymorphism in Chinese population.											
123549	N	NEUROLOGICALenerative disease	NEUROLOGICAL	NEUR	Neurodegenerative Diseases	19	19q13.3-q13.4	FTL	54160377	54161948		Vidal R 2004	15099026				Ferritin, light polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF244604			KGB	2512	Hs.433670			Journal of neuropathology and experimental neurology. 2004 Apr;63(4):363-80	Intracellular ferritin accumulation in neural and extraneural t characterizes a NEUROLOGICALenerative disease associated with a mutation in the ferritin light polypeptide gene.		134790	2723	1	2004												
123550	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.3-q13.4	FTL	54160377	54161948		Chen, R.  et al. 2002	12459518				Ferritin, light polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF244604		North America	CDC GDPinfo	2512	Hs.433670			Neuroscience letters. 2002 Dec;335(2):144-6	Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America.		134790	16773	2	2002	The results showed that none of them had the mutation, indicating that genetic defects in the FTL gene are unlikely to be a common cause of typical PD, at least in a North America population.	Cohort 253 patients with a clinical diagnosis of idiopathic Parkinson's disease 										
123551		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.3-q13.4	FTL	54160377	54161948		Felletschin, B.  et al. 2003	14615048				Ferritin, light polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF244604			CDC GDPinfo	2512	Hs.433670			Neuroscience letters. 2003 Nov;352(1):53-6	Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra.		134790	21489	2	2003	Although functional analysis will show, whether this sequence variation might be causative for single cases of PD, the results indicate that mutations in the ferritin genes are not a common cause for PD with increased levels of iron of the SN.	Control:186:controls;Case:186 Parkinson's disease patients, in whom an increased amount of iron of the substantia nigra (SN) was priorly identified by transcranial ultrasound										
123545		infertility, male	REPRODUCTION	REP	Infertility, Male	2	2p21-p16	FSHR	49043155	49235134		Galan, J. J.  et al. 2005	16213843				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Fertility and sterility. 2005 Oct;84(4):910-8	Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.		136435	26012	2	2005												
123546		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	5	5q11.2	FST	52812351	52817661		Tucci, S.  et al. 2001	11232039				Follistatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006350.2	Caucasian		CDC GDPinfo	10468	Hs.9914			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):446-9	Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus		136470	24458	2	2001	In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. It remains to be determined if this susceptibility gene is the insulin receptor gene itself or a closely located gene. Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS.	Case:85 Caucasian polycystic ovarian syndrome patients;Control:87 age-matched Caucasian control women										
123547	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3q13.33	FSTL1	121595815	121652515		Ehara, Y.  et al. 2004	15638044				Follistatin-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007085.3			CDC GDPinfo	11167	Hs.591316			Clinical and experimental rheumatology. 2004 Nov-Dec;22(6):707-12	Follistatin-related protein gene (FRP) is expressed in the synovial tissues of rheumatoid arthritis, but its polymorphisms are not associated with genetic susceptibility		605547	10754	2	2004	 FRP mRNA is overexpressed in RA synovium, the product of which exerts inhibitory activity on synovial cell growth. Although new polymorphic sites were identified, they were not associated with susceptibility to RA, suggesting that overexpression of FRP is secondarily caused by synovial environment of RA.	Control:220 healthy individuals;Case:224 patients with rheumatoid arthritis										
123542		testosterone; FSH, basal; inhibin B levels; semen parameters	METABOLIC	MET		2	2p21-p16	FSHR	49043155	49235134		Asatiani, K.  et al. 2002	12059813				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Andrologia. 2002 Jun;34(3):172-6	Distribution and function of FSH receptor genetic variants in normal men.		136435	16769	2	2002	This clinical finding demonstrates that, differently from females, in whom a significant correlation between FSHR polymorphism and basal FSH levels was found, the FSHR genotype has no influence on clinical parameters in males.	Cohort 150 men 										
123543	N	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	2	2p21-p16	FSHR	49043155	49235134		Sundblad, V.  et al. 2004	15249125				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2		Argentina	CDC GDPinfo	2492	Hs.1428			Molecular and cellular endocrinology. 2004 Jul;222(2-Jan):53-9	Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).		136435	16770	2	2004	We suggest that mutations in FSHR gene are rare in women with POF in Argentine. Presence of a particular FSHR isoform does not appear to be associated with this disease.	Case:20 women with premature ovarian failure:Argentina;Control:44:controls										
123544		azoospermia	REPRODUCTION	REP	Oligospermia	2	2p21-p16	FSHR	49043155	49235134		Ahda, Y.  et al. 2005	15955888				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Journal of andrology. 2005 Jul-Aug;26(4):494-9	Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men.		136435	16771	2	2005	We conclude that  the FSHR haplotype does not associate with different serum FSH levels but it is differently distributed in normal and azoospermic men. The A-Ala-Ser and the G-Thr-Asn allele might represent genetic factors contributing to phenotypic expression of severe spermatogenetic impairment.											
123539		invitro fertilization	REPRODUCTION	REP		2	2p21-p16	FSHR	49043155	49235134		Behre, H. M.  et al. 2005	15970792				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Pharmacogenetics and genomics. 2005 Jul;15(7):451-6	Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach tocontrolled ovarian hyperstimulation.		136435	10752	2	2005												
123540		infertility, female	REPRODUCTION	REP	Infertility, Female|Genetic Predisposition to Disease	2	2p21-p16	FSHR	49043155	49235134		Falconer, H.  et al. 2005	16026410				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Acta obstetricia et gynecologica Scandinavica. 2005 Aug;84(8):806-11	Follicle-stimulating hormone receptor polymorphisms in a population of infertile women.		136435	10753	2	2005	 The results show that Ser/Ser-680 predominates in the studied infertile population. Furthermore, women with normal ovarian reserve and the Ser/Ser FSH receptor variant had significantly higher FSH levels, compared to women with Asn/Asn and Asn/Ser variants. FSH receptor genotyping may, thus, be interesting as an adjunct indicator of ovarian reserve for infertile women undergoing assisted reproduction, and may be helpful in the determination of the starting dosage of FSH in in vitro fertilization.											
123541	N	polycystic ovarian syndrome; premature ovarian failure	METABOLIC	MET	Polycystic Ovary Syndrome|Ovarian Failure, Premature	2	2p21-p16	FSHR	49043155	49235134		Tong, Y.  et al. 2001	11383926				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2	Chinese	Singapore	CDC GDPinfo	2492	Hs.1428			Horm Metab Res. 2001 Apr;33(4):221-6	Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome		136435	16768	2	2001	It appears from this study that mutations in the coding regions of FSHR gene are not a causative factor of the above clinical manifestations in Chinese Singapore women.	Case:124 women with polycystic ovary syndrome;Case:16 women with premature ovarian failure;Control:236 normal control subjects										
123536		infertility, female	REPRODUCTION	REP	Anovulation|Infertility, Female	2	2p21-p16	FSHR	49043155	49235134		Laven, J. S.  et al. 2003	14556822				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			Fertility and sterility. 2003 Oct;80(4):986-92	Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility		136435	10749	2	2003	Normogonadotropic anovulatory infertile patients have a different FSH receptor genotype than do normo-ovulatory controls. Although this characteristic is associated with increased baseline FSH serum levels, altered ovarian sensitivity to exogenous FSH during ovulation induction could not be established.	Case:148 normogonadotropic anovulatory infertile women;Control:30 normo-ovulatory controls										
123537		ovarian hyperstimulation syndrome	METABOLIC	MET	Ovarian Hyperstimulation Syndrome|Genetic Predisposition to Disease|Iatrogenic Disease	2	2p21-p16	FSHR	49043155	49235134		Daelemans, C.  et al. 2004	15579795				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			The Journal of clinical endocrinology and metabolism. 2004 Dec;89(12):6310-5	Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism.		136435	10750	2	2004	These results were unexpected, because the frequency of the S(680) allele was previously found to be increased among poor responders to FSH stimulation. In a second phase, we studied FSHr allele frequencies according to the severity of OHSS. Interestingly, a significant enrichment in the allele N(680) was observed as the severity of OHSS increased (P = 0.034). Bearing in mind the limitations of the small number of patients studied and the possibility of sampling biases, these results suggest that the genotype in position 680 of the FSHr cannot predict which patients will develop OHSS, but could be a predictor of severity of symptoms among OHSS patients.	Case:130 Caucasian female patients who were treated by IVF but never developed ovarian hyperstimulation:syndrome;Control:99 Caucasian femal controls										
123538	Y	menstrual cycle	REPRODUCTION	REP		2	2p21-p16	FSHR	49043155	49235134		Greb, R. R.  et al. 2005	15886248				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDPinfo	2492	Hs.1428			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4866-72	A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle.		136435	10751	2	2005	 The FSH receptor Ser680/Ser680 genotype is associated with higher ovarian threshold to FSH, decreased negative feedback of luteal secretion to the pituitary during the intercycle transition, and longer menstrual cycles.	Cohort 12/9 women volunteers homozygous for the Asn(680)(n=12) and Ser(680)(n=9) variant with normal menstrual cycle 										
123533		normogonadotropic anovulatory infertility	REPRODUCTION	REP	Anovulation|Infertility, Female	2	2p21-p16	FSHR	49043155	49235134		Laven JS 2003	14556822				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			KGB	2492	Hs.1428			Fertility and sterility. 2003 Oct;80(4):986-92	Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility.		136435	2720	1	2003	Normogonadotropic anovulatory infertile patients have a different FSH receptor genotype than do normo-ovulatory controls. Although this characteristic is associated with increased baseline FSH serum levels, altered ovarian sensitivity to exogenous FSH during ovulation induction could not be established.	Case:148 normogonadotropic anovulatory infertile women;Control:30 normo-ovulatory controls										
123534		efficacy of follicle-stimulating hormone	OTHER	OTH		2	2p21-p16	FSHR	49043155	49235134		de Castro F 2003	12969700	Ser680Asn			Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			KGB	2492	Hs.1428			Fertility and sterility. 2003 Sep;80(3):571-6	Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone.		136435	2721	1	2003	 The results support a role for FSHR gene in COS outcome.											
123535		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genital Diseases, Female	2	2p21-p16	FSHR	49043155	49235134		Sudo, S.  et al. 2002	12356937				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2		Japan	CDC GDPinfo	2492	Hs.1428			Molecular human reproduction. 2002 Oct;8(10):893-9	Genetic and functional analyses of polymorphisms in the human FSH receptor gene.		136435	10748	2	2002	These results suggest that although FSH receptor polymorphisms have no discernible effect on FSH receptor function in vitro, there are associations between the genotype and some aspects of patient status.	Cohort 522 Japanese women 										
123530		retinitis pigmentosa; macular dystrophy	VISION	VIS	Retinitis Pigmentosa|Macular Degeneration	17	17q25	FSCN2	77110011	77114632		Gamundi, M. J.  et al. 2005	16280978				Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012418.1	Spanish		CDC GDPinfo	25794	Hs.118555			Molecular vision [electronic resource]. 2005 Nov;11:922-8	Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.		607643	16767	2	2005	 The photoreceptor-specific FSCN2 gene showed a relatively high number of sequence variations. The mutation 208delG in FSCN2, the only mutation so far associated with adRP or adMD, and which presumably causes a null allele, was not detected in these Spanish families. The nonsense mutation, Lys302Stop, detected in one adRP Spanish family is not the cause of the disease. These findings support the fact that the kind and frequency of the mutations depend on the ethnic population.											
123531	Y	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome|Acne Vulgaris|Hirsutism|Obesity|Menstruation Disturbances	11	11p13	FSHB	30209138	30213400		Tong Y et al. 2000	11119757				Follicle stimulating hormone, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000510.2			KGB	2488	Hs.36975			Fertility and sterility. 2000 Dec;74(6):1233-6	Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome.		136530	2719	1	2000	The AccI polymorphism in FSHbeta gene may be associated with PCOS in some women, especially those with obesity.	Control:105 normal controls;Case:135 patients with polycystic ovarian syndrome:Singapore	obesity									
123532		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Acne Vulgaris|Hirsutism|Obesity|Menstruation Disturbances	11	11p13	FSHB	30209138	30213400		Tong, Y.  et al. 2000	11119757				Follicle stimulating hormone, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000510.2			CDC GDPinfo	2488	Hs.36975			Fertility and sterility. 2000 Dec;74(6):1233-6	Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome.		136530	10747	2	2000	The AccI polymorphism in FSHbeta gene may be associated with PCOS in some women, especially those with obesity.	Control:105 normal controls;Case:135 patients with polycystic ovarian syndrome:Singapore	obesity									
123527	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	2	2qter	FRZB	183406981	183439743		Min, J. L.  et al. 2005	15818669				Frizzled-related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001463.2		Netherlands	CDC GDPinfo	2487	Hs.128453			Arthritis and rheumatism. 2005 Apr;52(4):1077-80	Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites.		605083	16765	2	2005	 Our results confirm that the R324G variant of the FRZB gene is involved in OA and indicate a role of this variant in several generalized OA phenotypes. A more extended OA phenotype may indeed be expected from genetic variation in an essential pathway of skeletal development such as Wnt signaling.	Control controls from the Rotterdam Study;Case subjects from the Genetics, osteoARthritis and Progression study:Cohort:1,369 subjects (ages 55-70 years) from a population-based cohort (the Rotterdam Study)										
123528	Y	Autosomal dominant macular degeneration	OTHER	OTH	Retinitis Pigmentosa|Macular Degeneration	17	17q25	FSCN2	77110011	77114632		Wada Y 2003	14609921				Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012418.1			KGB	25794	Hs.118555			Archives of ophthalmology. 2003 Nov;121(11):1613-20	Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene.		607643	6727	1	2003	 The 208delG mutation in the FSCN2 gene produces not only autosomal dominant retinitis pigmentosa but also ADMD in the Japanese population. This mutation is relatively common in Japanese patients with autosomal dominant retinal degeneration and showed clinical variability. CLINICAL RELEVANCE: Autosomal dominant retinitis pigmentosa and ADMD can be caused by the same 208delG mutation. We suggest that mutations in the FSCN2 gene can lead to a spectrum of phenotypes.											
123529		retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	17	17q25	FSCN2	77110011	77114632		Wada, Y.  et al. 2003	14661542				Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012418.1	Japanese	Japan	CDC GDPinfo	25794	Hs.118555			Nippon Ganka Gakkai zasshi. 2003 Nov;107(11):687-94	[Molecular genetic analysis for Japanese patients with autosomal dominant retinitis pigmentosa]		607643	16766	2	2003	 The Pro 23 His and Pro 347 Leu mutations in the rhodopsin gene are representative mutations for ADRP in other countries, but the mutation in the rhodopsin gene is very rare in Japanese patients with ADRP. On the other hand, a novel 208 delG mutation in the FSCN 2 gene was identified in 14 patients from 4 Japanese families with ADRP. This mutation was found in 3.3% of patients with ADRP, which suggests that this mutation might be relatively common and characteristic in Japanese patients with ADRP.	Cohort 120 Japanese patients with autosomal dominant retinitis pigmentosa 										
123524	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Zavattari, P.  et al. 2004	15220219				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2		Italy	CDC GDPinfo	50943	Hs.247700			Diabetes. 2004 Jul;53(7):1911-4	No association between variation of the FOXP3 gene and common type 1 diabetes in the Sardinian population.		300292	16748	2	2004	Our data indicate that allelic variation in or near the coding regions of the FOXP3 gene does not have a major role in the inherited susceptibility to the common form of type 1 diabetes.	Case:268 male type 1 diabetic cases:Sardinia;Control:326 male controls										
123525	N	periodontitis	IMMUNE	IMM	Periodontitis, Juvenile	19	19q13.4	FPR1	56940837	56946962		Zhang, Y.  et al. 2003	12595898				Formyl peptide receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002029.3			CDC GDPinfo	2357	Hs.753			Genes and immunity. 2003 Jan;4(1):22-9	Evaluation of human leukocyte N-formylpeptide receptor (FPR1) SNPs in aggressive periodontitis patients.		136537	16749	2	2003	These data do not support the hypothesis that the FPR1 SNPs c.329T>C and c.378C>G play an etiologic role in aggressive periodontitis, but do suggest that SNPs in the second extracellular loop may be etiologically important.	Case:111 ethnically diverse periodontitis patients;Control:115:controls										
123526	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6q21-q22.3	FRK	116369385	116488614		Ohnuma, T.  et al. 2003	12750000				Fyn-related kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002031.2			CDC GDPinfo	2444	Hs.89426			Neuroscience letters. 2003 May;343(1):70-2	No genetic association between polymorphisms in the Fyn kinase gene and age of schizophrenic onset.		606573	10746	2	2003	The present study reports that there is no indication that the three polymorphisms in the Fyn gene are associated with the age of schizophrenic onset.	Cohort 139 unrelated schizophrenics 										
123520		autism	PSYCH	PSY	Autistic Disorder	7	7q31	FOXP2	113513617	114117391		Gauthier, J.  et al. 2003	12655497				Forkhead box P2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014491.1			CDC GDPinfo	93986	Hs.282787			American journal of medical genetics Part A. 2003 Apr;118(2):172-5	Mutation screening of FOXP2 in individuals diagnosed with autistic disorder.		605317	16746	2	2003	We identified four silent polymorphisms that were equally distributed between patients and controls.	Case subjects diagnosed with autistic disorder;Control normal controls										
123521	N	autism	PSYCH	PSY	Autistic Disorder	7	7q31	FOXP2	113513617	114117391		Marui, T.  et al. 2005	15998549				Forkhead box P2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014491.1	Japanese		CDC GDPinfo	93986	Hs.282787			Neuroscience research. 2005 Sep;53(1):91-4	No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.		605317	16747	2	2005												
123522	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Bassuny WM et al. 2003	12750858				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2	Japanese		Y Wang	50943	Hs.247700			Immunogenetics. 2003 Jun;55(3):149-56	A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfingene associated with type 1 diabetes.		300292	6757	1	2003	In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.	Case Japanese type 1 diabetics;Control:controls										
123523	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Bassuny, W. M.  et al. 2003	12750858			promoter	Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2	Japanese		CDC GDPinfo	50943	Hs.247700			Immunogenetics. 2003 Jun;55(3):149-56	A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes.		300292	10742	2	2003	In conclusion, the FOXP3/Scurfin gene appears to confer a significant susceptibility to type 1 diabetes in the Japanese population.	Case Japanese type 1 diabetics;Control:controls										
123517		longevity	AGING	AGE		13	13q14.1	FOXO1A	40027816	40138734		Kojima, T.  et al. 2004	15582274				Forkhead box O1A (rhabdomyosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015.2	Japanese		CDC GDPinfo	2308	Hs.370666			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		136533	18902	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
123518		schizophrenia	PSYCH	PSY	Language Disorders|Hallucinations|Genetic Predisposition to Disease|Schizophrenia	7	7q31	FOXP2	113513617	114117391		Sanjuan, J.  et al. 2005	15653268				Forkhead box P2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014491.1			CDC GDPinfo	93986	Hs.282787			Schizophrenia research. 2005 Mar;73(3-Feb):253-6	FOXP2 polymorphisms in patients with schizophrenia.		605317	10740	2	2005	 This study would not support a possible role of the two FOXP2 analyzed polymorphisms in the vulnerability to schizophrenia.											
123519	Y	autism	PSYCH	PSY	Autistic Disorder	7	7q31	FOXP2	113513617	114117391		Li, H.  et al. 2005	15737702				Forkhead box P2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014491.1	Japanese		CDC GDPinfo	93986	Hs.282787			Brain & development. 2005 Apr;27(3):207-10	Absence of causative mutations and presence of autism-related allele in FOXP2 in Japanese autistic patients.		605317	10741	2	2005	Our results may suggest a relationship between autism and the FOXP2 gene or a gene located nearby.	Control:50 control individuals;Case:53 Japanese autistic patients										
123512		BPES	OTHER	OTH	Blepharophimosis|Blepharoptosis|Abnormalities, Multiple|Syndrome	3	3q23	FOXL2	140145755	140148491		Udar N 2003	12938087				Forkhead box L2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023067.2			KGB	668	Hs.289292			Human mutation. 2003 Sep;22(3):222-8	Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.		605597	988	1	2003												
123513	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	3	3q23	FOXL2	140145755	140148491		Harris, S. E.  et al. 2002	12149404				Forkhead box L2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023067.2		Slovenia|New Zealand	CDC GDPinfo	668	Hs.289292			Molecular human reproduction. 2002 Aug;8(8):729-33	Identification of novel mutations in FOXL2 associated with premature ovarian failure		605597	16744	2	2002	novel mutations in FOXL2 are associated with premature ovarian failure	Control:100 normal controls;Case:70 POF patients New Zealand and Slovenia										
123514	N	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	3	3q23	FOXL2	140145755	140148491		Bodega, B.  et al. 2004	15181179				Forkhead box L2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023067.2			CDC GDPinfo	668	Hs.289292			Molecular human reproduction. 2004 Aug;10(8):555-7	Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure.		605597	16745	2	2004	The analysis did not reveal any mutation in the 240 analysed chromosomes, indicating that mutations in the FOXL2 coding region are rarely associated with non-syndromic POF.	Cohort 70 idiopathic premature ovarian failure patients 										
123509		thyroid dysgenesis	DEVELOPMENTAL	DEV	Choristoma	9	9q22	FOXE1	99655357	99658818		Hishinuma, A.  et al. 2001	11580993				Forkhead box E1 (thyroid transcription factor 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004473.3			CDC GDPinfo	2304	Hs.159234			European journal of endocrinology. 2001 Oct;145(4):385-9	Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis.		602617	10739	2	2001	 These results suggest that the polymorphism of the polyalanine tract of TITF2 is not a frequent cause of developmental defects of the human thyroid gland.	Control:101 normal individuals;Case:46 patients with thyroid dysgenesis										
123510		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	9	9q22	FOXE1	99655357	99658818			16327884				Forkhead box E1 (thyroid transcription factor 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004473.3			CDC GDPinfo	2304	Hs.159234			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		602617	18026	2	2005												
123511	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	3	3q23	FOXL2	140145755	140148491		Harris SE et al. 2002	12149404				Forkhead box L2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023067.2		Slovenia|New Zealand	KGB	668	Hs.289292			Molecular human reproduction. 2002 Aug;8(8):729-33	Identification of novel mutations in FOXL2 associated with premature ovarian failure.		605597	987	1	2002	novel mutations in FOXL2 are associated with premature ovarian failure	Control:100 normal controls;Case:70 POF patients New Zealand and Slovenia										
123506	N	body mass; triglycerides; diabetes, type 2; glucose	METABOLIC	MET		16	16q22-16q24	FOXC2	85158442	85159948		Kovacs, P.  et al. 2003	12716768				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1	Pima Indian		CDC GDPinfo	2303	Hs.436448			Diabetes. 2003 May;52(5):1292-5	Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians.		602402	16741	2	2003	Our data indicate that variation in FOXC2 may have a minor role in body weight control and seems to be involved in the regulation of basal glucose turnover and plasma triglyceride levels in women, but this gene does not significantly contribute to the etiology of type 2 diabetes in Pima Indians.	Cohort 937 full-blooded Pima Indians 										
123507	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus	16	16q22-16q24	FOXC2	85158442	85159948		Yanagisawa, K.  et al. 2003	14530861				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1	Danish	Denmark	CDC GDPinfo	2303	Hs.436448			Diabetologia. 2003 Nov;46(11):1576-80	The FOXC2 -512C>T variant is associated with hypertriglyceridaemia and increased serum C-peptide in Danish Caucasian glucose-tolerant subjects		602402	16742	2	2003	Our data suggest that the FOXC2 -512C>T variant is not associated with Type 2 diabetes. However, among glucose-tolerant subjects the variant is associated with hypertriglyceridaemia and increased fasting serum C-peptide.	Control:505/219 unrelated glucose-tolerant control subjects (n=505)and glucose-tolerant offspring of Type 2 diabetic probands (n=219);Case:705 unrelated type 2 diabetic patients										
123508		insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	16	16q22-16q24	FOXC2	85158442	85159948		Haap, M.  et al. 2005	15926113				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1			CDC GDPinfo	2303	Hs.436448			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		602402	24455	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
123503	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q22-16q24	FOXC2	85158442	85159948		Osawa, H.  et al. 2003	12540636				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1	Japanese	Japan	CDC GDPinfo	2303	Hs.436448			Diabetes. 2003 Feb;52(2):562-7	Systematic search for single nucleotide polymorphisms in the FOXC2 gene: the absence ofevidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes		602402	10736	2	2003	Thus, the SNPs identified in the FOXC2 gene are unlikely to have major effects on susceptibility to Japanese type 2 diabetes.	Case:195 Japanese type 2 diabetics;Control:200 control subjects										
123504	Y	body mass; diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease	16	16q22-16q24	FOXC2	85158442	85159948		Carlsson, E.  et al. 2004	15597109	(-512C>T)			Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1			CDC GDPinfo	2303	Hs.436448			International journal of obesity (2005). 2005 Mar;29(3):268-74	Role of the FOXC2 -512C>T polymorphism in type 2 diabetes: possible association with thedysmetabolic syndrome.		602402	10737	2	2004	 We conclude that FOXC2 is associated with obesity and metabolic deterioration but does not contribute to an increased risk for type 2 diabetes.	Control:307 control subjects;Case:390 type 2 diabetic patients										
123505	Y	lipid metabolism disorders; obesity	METABOLIC	MET	Insulin Resistance|Hyperlipidemias|Obesity	16	16q22-16q24	FOXC2	85158442	85159948		Carlsson, E.  et al. 2004	15601967	(-512C>T)			Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1			CDC GDPinfo	2303	Hs.436448			Obesity research. 2004 Nov;12(11):1738-43	The FOXC2 C-512T polymorphism is associated with obesity and dyslipidemia.		602402	10738	2	2004	Our data suggest that FOXC2 is a weak but consistent candidate gene for obesity and dyslipidemia.	Case:127 obese subjects;Control:127 normal-weight nondiabetic subjects matched for age and sex										
123499		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20p11	FOXA2	22509822	22514102		Hinokio Y 2000	10868948				Forkhead box A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021784.3		Japan	Y Wang	3170	Hs.155651			Diabetes. 2000 Feb;49(2):302-5	Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young.		600288	3180	1	2000												
123500		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20p11	FOXA2	22509822	22514102		Zhu Q 2000	11043867				Forkhead box A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021784.3	Japanese	Japan	Y Wang	3170	Hs.155651	MODY		Diabetologia. 2000 Sep;43(9):1197-200	Identification of missense mutations in the hepatocyte nuclear factor-3beta gene in Japanese subjects with late-onset Type II diabetes mellitus.		600288	3181	1	2000												
123502	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q22-16q24	FOXC2	85158442	85159948		Osawa H et al. 2003	12540636				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1	Japanese	Japan	KGB	2303	Hs.436448			Diabetes. 2003 Feb;52(2):562-7	Systematic search for single nucleotide polymorphisms in the FOXC2 gene: the absence of evidence for the association of three frequent single nucleotide polymorphisms and four common haplotypes with Japanese type 2 diabetes.		602402	2694	1	2003	Thus, the SNPs identified in the FOXC2 gene are unlikely to have major effects on susceptibility to Japanese type 2 diabetes.	Case:195 Japanese type 2 diabetics;Control:200 control subjects										
123495	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	11	11q13.3-q13.5	FOLR2	71605490	71610638		O'Leary, V. B.  et al. 2003	12809644				Folate receptor 2 (fetal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000803.2	Irish	Ireland	CDC GDPinfo	2350	Hs.433159			Molecular genetics and metabolism. 2003 Jun;79(2):129-33	Analysis of the human folate receptor beta gene for an association with neural tube defects.		136425	16740	2	2003	In conclusion, SNP rs651646 within the FRbeta gene is polymorphic but is not associated with neural tube defects within the Irish population.	Case:254 NTD-affected children and their parents;Control:296 pregnant women who did not give birth to an NTD-affected child										
123497		normal variation	NORMALVARIATION	NV	Malignant Hyperthermia	14	14q24.3	FOS	74815283	74818665		Umino Y et al. 2000	10980557	497 (T/G) and 829 (T/C)			v-fos FBJ murine osteosarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005252.2			KGB	2353	Hs.25647			Human mutation. 2000 Sep;16(3):279	Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association.		164810	2712	1	2000												
123498		bone density	METABOLIC	MET	Osteoporosis	14	14q24.3	FOS	74815283	74818665		Mizuguchi, T.  et al. 2004	14727154				V-fos FBJ murine osteosarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005252.2		Japan	CDC GDPinfo	2353	Hs.25647			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		164810	19622	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
123492	N	Neural Tube Defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	11	11q13.3-q14.1	FOLR1	71578249	71585014	n	Barber RC 1998	9545095				Folate receptor 1 (adult)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016725			KGB	2348	Hs.73769			American journal of medical genetics. 1998 Apr;76(4):310-7			136430	2710	1	1998												
123493		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13.3-q14.1	FOLR1	71578249	71585014		Zhang, G.  et al. 2005	15754024				Folate receptor 1 (adult)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016725	Chinese	China	CDC GDPinfo	2348	Hs.73769			International journal of molecular medicine. 2005 Apr;15(4):627-32	Polymorphisms and mutations of the folate receptor-alpha gene and risk of gastric cancer in a Chinese population.		136430	10735	2	2005	These results support the hypothesis that genetic polymorphism in the FR-alpha gene may contribute to susceptibility to carcinogenesis of the gastric cancer in the at-risk Chinese population.	Case:296 gastric cancer cases northern China;Control:354 age and sex-matched controls										
123494		homocystinuria	METABOLIC	MET	Hyperhomocysteinemia	11	11q13.3-q14.1	FOLR1	71578249	71585014		Nilsson, T. K.  et al. 2004	14972645			promoter	Folate receptor 1 (adult)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016725			CDC GDPinfo	2348	Hs.73769			Clinical biochemistry. 2004 Mar;37(3):224-9	Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: anadditional contributor to hyperhomocysteinemia?		136430	16739	2	2004	 The promoter region of FR-alpha may harbor much more genetic variation than its highly conserved exons, and not just isolated, unique mutations. This could be a new factor contributing to gene-food interaction explaining part of the hyperhomocysteinemia panorama. Extended searches for polymorphisms further upstream in the FR-alpha gene are warranted.	Cohort 778 patients with hyperhomocysteinemia 										
123490	Y	kidney transplant; folate; homocysteine	PHARMACOGENOMIC	PHARM		11	11p11.2	FOLH1	49124762	49186798		Winkelmayer, W. C.  et al. 2003	12753319				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			Kidney international. 2003 Jun;63(6):2280-5	Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients.		600934	19250	2	2003	 We conclude that GCP2 1561C>T is associated with elevated folate levels. GCP2 1561C>T and RFC1 80G>A are no major determinants of tHcy plasma levels in kidney transplant patients.	Cohort 730 kidney allograft recipients 										
123491		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism	11	11p11.2	FOLH1	49124762	49186798		Morin, I.  et al. 2003	12855225				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1		Canada	CDC GDPinfo	2346	Hs.380325			Molecular genetics and metabolism. 2003 Jul;79(3):197-200	Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.		600934	19251	2	2003	Since this small study is the first to demonstrate increased risk for women with the RFC-1 variant for having a child with a NTD, additional larger studies are required to confirm this change as another potential genetic modifier for spina bifida risk.	Case mothers of spina bifida offspring;Control control women										
123486		kidney failure, chronic; folate; homocysteine	RENAL	REN	Kidney Failure, Chronic	11	11p11.2	FOLH1	49124762	49186798		Fodinger, M.  et al. 2003	12707400				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			Journal of the American Society of Nephrology. 2003 May;14(5):1314-9	Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients.		600934	13499	2	2003	In conclusion, GCP2 1561C>T, but not RFC1 80G>A, is a predictor of red blood cell folate level in chronic dialysis patients. Both polymorphisms have no major effect on tHcy plasma concentration in end-stage renal disease patients.	Cohort 120 chronic dialysis patients 										
123488	Y	folate	METABOLIC	MET		11	11p11.2	FOLH1	49124762	49186798		Melse-Boonstra, A.  et al. 2004	15321811				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			The American journal of clinical nutrition. 2004 Sep;80(3):700-4	Bioavailability of polyglutamyl folic acid relative to that of monoglutamyl folic acid in subjects with different genotypes of the glutamate carboxypeptidase II gene.		600934	16738	2	2004	 The 1561T allele of the GCPII gene does not impair the bioavailability of polyglutamyl folic acid. However, the allele is associated with higher folate status. This association may be explained by yet unidentified factors controlling the expression of the GCPII gene.	Cohort 180 healthy adults aged 50-75 y who received 323 nmol monoglutamyl folic acid/d (n = 59), 262 nmol heptaglutamyl folic acid/d (n = 61), or placebo (n = 60) for 12 wk 	folate									
123484	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	11	11p11.2	FOLH1	49124762	49186798		Afman, L. A.  et al. 2003	12514270				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1		Netherlands	CDC GDPinfo	2346	Hs.380325			The Journal of nutrition. 2003 Jan;133(1):75-7	The H475Y Polymorphism in the II Gene Increases Plasma Folate without Affecting the Risk for Neural Tube Defects in Humans		600934	10734	2	2003	This variation was associated with increased plasma folate (P < 0.04) and tended to be associated with decreased plasma tHcy (P < 0.09). It was not associated with erythrocyte folate or the risk for NTD. The H475Y polymorphism in the GCPII gene may increase the deconjugation activity of the FGCP enzyme, resulting in an increased absorption of folate in the body, as reflected by the increased plasma folate and decreased plasma homocysteine concentrations.	Control:101:controls;Case:96/113/97 neural tube defect patients (n=96) and their mothers (n=113) and fathers (n=97)										
123485		colorectal cancer; folate, erythrocyte	CANCER	CAN	Colorectal Neoplasms	11	11p11.2	FOLH1	49124762	49186798		Chen, J.  et al. 2004	15122597				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):617-20	Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study.		600934	12531	2	2004	Findings from our prospective investigation indicate that these newly identified polymorphisms in one-carbon metabolizing genes have limited functionality in modifying folate status and related CRC risk.	Case:270 incident colorectal cancer cases;Control:453:controls										
123480	N	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q34	FN1	215933423	216009036		Nakata, K.  et al. 2003	12497612				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			CDC GDPinfo	2335	Hs.203717			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):41-4	Association study between the fibronectin gene and schizophrenia.		135600	16736	2	2003	These data did not provide evidence for a contribution of the FN1 gene to susceptibility to schizophrenia.	Case:104 schizophrenic patients in the Japanese population;Control:104 age- and gender-matched controls										
123481	Y	lower levels of serum folate and hyperhomocysteinemia	OTHER	OTH	Hyperhomocysteinemia	11	11p11.2	FOLH1	49124762	49186798		Devlin AM et al. 2000	11092759				folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			KGB	2346	Hs.380325			Human molecular genetics. 2000 Nov;9(19):2837-44	Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia.		600934	2709	1	2000	These data suggest that the presence of the H475Y GCPII allele impairs the intestinal absorption of dietary folates, resulting in relatively low blood folate levels and consequent hyperhomocysteinemia.	Cohort 75 healthy Caucasian population										
123482	N	folate	METABOLIC	MET		11	11p11.2	FOLH1	49124762	49186798		Vargas-Martinez, C.  et al. 2002	12042430				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			The Journal of nutrition. 2002 Jun;132(6):1176-9	The glutamate carboxypeptidase gene II (C>T) polymorphism does not affect folate status in the Framingham Offspring cohort.		600934	10732	2	2002	Our data show that the GCPII C1561T polymorphism is not a determinant of plasma folate or total homocysteine concentrations in this large cohort of participants from the Framingham Offspring Study.	Cohort 1324 men (n=680) and women (n=644) attending the fifth examination of the Framingham Offspring Study 										
123477	N	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q34	FN1	215933423	216009036		Nakata K et al. 2003	12497612				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			KGB	2335	Hs.203717			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):41-4	Association study between the fibronectin gene and schizophrenia.		135600	2707	1	2003	These data did not provide evidence for a contribution of the FN1 gene to susceptibility to schizophrenia.	Case:104 schizophrenic patients in the Japanese population;Control:104 age- and gender-matched controls										
123478	Y	systemic sclerosis	OTHER	OTH	Pulmonary Fibrosis|Scleroderma, Systemic	2	2q34	FN1	215933423	216009036		Avila JJ et al. 1999	9870923				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			KGB	2335	Hs.203717			American journal of respiratory cell and molecular biology. 1999 Jan;20(1):106-12	Fibronectin gene polymorphisms associated with fibrosing alveolitis in systemic sclerosis.		135600	2708	1	1999	We conclude that  genotypes of the fibronectin gene are useful prognostic factors in SSc, helping to predict individuals likely to develop pulmonary fibrosis.											
123479	N	lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	2	2q34	FN1	215933423	216009036		Siemianowicz, K.  et al. 2001	11605051				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			CDC GDPinfo	2335	Hs.203717			Oncology reports. 2001 Nov-Dec;8(6):1289-92	Fibronectin gene polymorphism in patients with lung cancer		135600	10731	2	2001	There were no statistically significant differences in the distribution of studied genotypes between lung cancer patients and controls.	Control:53 controls without any malignant or proliferative:disease;Case:63 patients with squamous cell lung cancer										
123474		premature ovarian failure	REPRODUCTION	REP	Fragile X Syndrome|Ovarian Failure, Premature	X	Xq27.3	FMR1	146801200	146840303			16161415				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Tsitol Genet. 2005 Mar-Apr;39(2):59-63	[The use of DNA analysis for diagnostics of hereditary premature ovarian failure]		309550	17799	2	2005												
123475		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Sharma, D.  et al. 2001	11119302				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	Caucasian	India	CDC GDPinfo	2332	Hs.103183			Genetic epidemiology. 2001 Jan;20(1):129-144	Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population		309550	21484	2	2001	CGG/GCC repeat variation at FMR1 and FMR2 loci observed in this study sample are different from that reported for the other Caucasian and Asian populations	Control unaffected controls;Case:130 mild/moderate mental retardation, with/without family history, and the fragile X clinical phenotype in an institutionalized population in New:Delhi, India										
123476		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq28	AFF2	147389830	147889899		Sharma, D.  et al. 2001	11119302				AF4/FMR2 family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002025.2	Caucasian	India	CDC GDPinfo	2334	Hs.496911			Genetic epidemiology. 2001 Jan;20(1):129-144	Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population		309548	8549	2	2001	CGG/GCC repeat variation at FMR1 and FMR2 loci observed in this study sample are different from that reported for the other Caucasian and Asian populations	Control unaffected controls;Case:130 mild/moderate mental retardation, with/without family history, and the fragile X clinical phenotype in an institutionalized population in New:Delhi, India										
123471	Y	multiple system atophy	OTHER	OTH	Multiple System Atrophy|Olivopontocerebellar Atrophies|Cerebellar Ataxia|Tremor|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Biancalana, V.  et al. 2005	15956167				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Archives of neurology. 2005 Jun;62(6):962-6	FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.		309550	16733	2	2005	 We confirm the recent initial description of FXTAS in women. Our data suggest that FXTAS is rare in MSA and indicate that FXTAS might be less prevalent than proposed.											
123472		cognitive performance	PSYCH	PSY	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Allen, E. G.  et al. 2005	15971024				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Behavior genetics. 2005 Jul;35(4):435-45	Examination of the effect of the polymorphic CGG repeat in the FMR1 gene on cognitive performance.		309550	16734	2	2005												
123473	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	X	Xq27.3	FMR1	146801200	146840303		Bretherick, K. L.  et al. 2005	16078053				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Human genetics. 2005 Aug;117(4):376-82	FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.		309550	16735	2	2005												
123468		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Cerebellar Ataxia	X	Xq27.3	FMR1	146801200	146840303		Brussino, A.  et al. 2005	15642922				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Neurology. 2005 Jan;64(1):145-7	FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.		309550	16730	2	2005												
123469		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Hedrich, K.  et al. 2005	15929093				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Movement disorders. 2005 Aug;20(8):1060-2	Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?		309550	16731	2	2005	3 premutation carriers (2 patients, 1 control) were detected. Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation.	Cohort 673 individuals with and without parkisonism 										
123470		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Rosales-Reynoso, M. A.  et al. 2005	15950084				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	Mexican	Mexico	CDC GDPinfo	2332	Hs.103183			Archives of medical research. 2005 Jul-Aug;36(4):412-7	Genetic diversity at the FMR1 locus in Mexican population.		309550	16732	2	2005	 Allele distribution in FMR1 gene from Mexican mestizos is different from that of other reported populations around the world. This unusual modal pattern probably is related to the particular ethnic background of the Mexican population. On the other hand, PCR on modified DNA is a valuable and efficient method for determination of CGG repetitive sequences in FMR1 gene.											
123465		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Moore, C. J.  et al. 2004	15483045				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Brain. 2004 Dec;127(Pt 12):2672-81	The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy		309550	16727	2	2004	Regional grey and white matter density is significantly affected in male pre-mutation carriers of FraX recruited on the basis of genetic, not clinical, phenotype. The association of voxel density reduction and ageing is consistent with observations of a subgroup of older pre-mutation males who present with cognitive decline. Moreover, our findings suggest, for the first time, an association between voxel density reduction and genetic variation in FraX.	Control healthy male controls;Case:20 adult male pre-mutation members of known FraX families 20										
123467		ovarian dysfunction	REPRODUCTION	REP	Menopause, Premature|Ovarian Failure, Premature|Genetic Predisposition to Disease	X	Xq27.3	FMR1	146801200	146840303		Sullivan, A. K.  et al. 2004	15608041				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Human reproduction (Oxford, England). 2005 Feb;20(2):402-12	Association of FMR1 repeat size with ovarian dysfunction		309550	16729	2	2004	 We found a significant positive association of repeat size with ovarian dysfunction, but have preliminary evidence that this relationship is non-linear. We suggest that FMR1 repeat size in the lower range (<80 repeats) contributes to the variation in age at menopause; thus, FMR1 could be considered a quantitative trait locus. More importantly, when repeat size exceeds this threshold, the increase in risk for ovarian dysfunction is clinically significant. Intriguingly, this risk appears to plateau, or perhaps decrease, among women with very high repeats (> or =100 repeats).	Cohort 507 women 										
123462		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Rife, M.  et al. 2002	12116303				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Prenatal diagnosis. 2002 Jun;22(6):459-62	Pilot study for the neonatal screening of fragile X syndrome.		309550	16724	2	2002	Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree.	Cohort 100 newborn males 										
123463		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Sharma, D.  et al. 2003	12596051				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	Indian	India	CDC GDPinfo	2332	Hs.103183			Human genetics. 2003 Mar;112(3):262-71	FMR1 haplotype analyses among Indians: a weakfounder effect and other findings.		309550	16725	2	2003	Though overall allele frequency distributions at the individual loci are more similar to Western Caucasians compared with others, significant differences are observed in haplotypic associations	Cohort a large ethnically complex Indian population 										
123459		mental retardation	DEVELOPMENTAL	DEV		X	Xq27.3	FMR1	146801200	146840303		Faradz, S. M.  et al. 2000	11415517				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Annals of human genetics. 2000 Jul;64(Pt 4):329-39	Genetic diversity at the FMR1 locus in the Indonesian population.		309550	16721	2	2000	These differences distinguish the Indonesian population from all previously reported Asian, European and African populations.	Cohort 1069 male volunteers from twelve Indonesian sub-populations Indonesia 										
123460		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome|Fetal Diseases	X	Xq27.3	FMR1	146801200	146840303		Toledano-Alhadef, H.  et al. 2001	11443541				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3		Israel	CDC GDPinfo	2332	Hs.103183			American journal of human genetics. 2001 Aug;69(2):351-60	Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.		309550	16722	2	2001	Because of the high prevalence of fragile-X premutation or full-mutation alleles, even in the general population, and because of the cost-effectiveness of the program, we recommend that screening to identify female carriers should be carried out on a wide scale.	Cohort 14,334 Israeli women of child-bearing age, who were either preconceptional or pregnant and had no family history of mental retardation 1992 - 2000 										
123461		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Crawford, D. C.  et al. 2002	12116230				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	African American	United States	CDC GDPinfo	2332	Hs.103183			American journal of medical genetics. 2002 Jul;110(3):226-33	Prevalence of the fragile X syndrome in African-Americans		309550	16723	2	2002	Results demonstrate that one-quarter to one-third of the children identified with the fragile X syndrome attending Atlanta public schools are not diagnosed before the age of 10 years. Also, a revised prevalence for the syndrome revealed a higher point estimate for African-American males	Cohort a large Caucasian and African-American population 										
123456		mental disorder	DEVELOPMENTAL	DEV		X	Xq27.3	FMR1	146801200	146840303		Mitchell, R.  et al. 2005	15617547				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Clinical genetics. 2005 Jan;67(1):38-46	FMR1 alleles in Tasmania: a screening study of thespecial educational needs population		309550	10730	2	2005	Contrary to expectation, given the normal frequency of grey zone alleles, no premutation (PM) or full mutation (FM) allele was detected in either sample, with only 15 fragile X families diagnosed through routine clinical admissions registered in Tasmania up to 2002. An explanation of this discrepancy could be that the C19th founders of Tasmania carried few PM or FM alleles. The eight to ten generations since white settlement of Tasmania has been insufficient time for susceptible grey zone alleles to evolve into the larger expansions.	Case:1,253 males with special educational needs:Tasmania;Control:578 consecutive male births										
123457		Fragile X Syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Mulatinho, M. V.  et al. 2000	11142760				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3		Brazil	CDC GDPinfo	2332	Hs.103183			Genetic testing. 2000 ;4(3):283-7	FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation.		309550	16719	2	2000	Our results are similar to those reported previously and point to the necessity of expanding the molecular investigation toward other causes of MR, such as subtle chromosomal rearrangements, as suggested recent by a combination of fluorescence in situ hybridization (FISH) and PCR studies.	Cohort 85 institutionalized individuals with severe MR, 38 males and 47 females 										
123453		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Nolin, S. L.  et al. 2003	12529854				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			American journal of human genetics. 2003 Feb;72(2):454-64	Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.		309550	10727	2	2003	These studies should allow improved risk assessments for genetic counseling of women with premutation or intermediate-size alleles.	Cohort individuals from a collaboration of 13 laboratories in eight countries 										
123454	Y	autism	PSYCH	PSY	Mental Retardation|Autistic Disorder	X	Xq27.3	FMR1	146801200	146840303		Shinahara, K.  et al. 2004	15000256				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	Japanese	Japan	CDC GDPinfo	2332	Hs.103183			The journal of medical investigation. 2004 Feb;51(2-Jan):52-8	Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan.		309550	10728	2	2004	Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients.	Control:50:controls;Case:90 autistic or mentally retarded children:Japan										
123455		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor	X	Xq27.3	FMR1	146801200	146840303		Garcia Arocena, D.  et al. 2004	15300658				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			Movement disorders. 2004 Aug;19(8):930-3	Screen for expanded FMR1 alleles in patients with essential tremor		309550	10729	2	2004	Screening of movement disorder patients with other clinical features of FXTAS (e.g., ataxia and parkinsonism) may be more likely to yield expanded FMR1 alleles.	Cohort 81 essential tremor patients (40 males, 41 females) 										
123450		fragile X syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Jara L et al. 1998	9475597				fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	normal Chilean	Chile	KGB	2332	Hs.103183			American journal of medical genetics. 1998 Jan;75(3):277-82	Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.		309550	2706	1	1998												
123451		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Dombrowski, C.  et al. 2002	11854169				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3		Quebec	CDC GDPinfo	2332	Hs.103183			Human molecular genetics. 2002 Feb;11(4):371-8	Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of anAGG interruption is a late event in the generation of fragile X syndrome alleles.		309550	10725	2	2002	The loss of AGG interruptions thus appears to be a late event that leads to greatly increased instability and may be related to the haplotype background of specific FMR1 alleles.	Cohort 10572 independent males from the same population 										
123452		ovarian dysfunction	REPRODUCTION	REP	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Mingroni-Netto, R. C.  et al. 2002	12210320				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3	South American	Brazil|Paraguay	CDC GDPinfo	2332	Hs.103183			American journal of medical genetics. 2002 Aug;111(3):243-52	Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.		309550	10726	2	2002	This suggests a general trend for higher genetic diversity among Africans; these rarer alleles could be African in origin and would have been lost or possibly were not present in the groups that gave rise to the Europeans.	Cohort normal South American populations of different ethnic background 										
123447	Y	fragile X syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome|Chromosome Fragility	X	Xq27.3	FMR1	146801200	146840303		Brown TC et al. 1997	9415473				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			KGB	2332	Hs.103183			American journal of medical genetics. 1997 Dec;73(4):447-55	Instability of the FMR2 trinucleotide repeat region associated with expanded FMR1 alleles.		309550	2703	1	1997												
123448		fragile X associated tremor/ataxia syndrome	OTHER	OTH	Ataxia|Tremor|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Tassone F 2004	15060119				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			KGB	2332	Hs.103183			Journal of medical genetics. 2004 Apr;41(4):e43	Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome.		309550	2704	1	2004												
123449		fragile X-associated tremor/ataxia syndrome	OTHER	OTH	Ataxia|Tremor|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Jacquemont S 2004	14747503				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3		California	KGB	2332	Hs.103183			JAMA. 2004 Jan;291(4):460-9	Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.		309550	2705	1	2004	 The study demonstrates that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing FXTAS. Since male premutation carriers are relatively common in the general population, older men with ataxia and intention tremor should be screened for the FMR1 mutation, especially if these signs are accompanied by parkinsonism, autonomic dysfunction, or cognitive decline, regardless of family history.											
123444		hypertension	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension|Metabolism, Inborn Errors|Genetic Predisposition to Disease	1	1q23-q25	FMO3	169326659	169353583			16324215				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4	Caucasian		CDC GDPinfo	2328	Hs.445350			BMC medical genetics [electronic resource]. 2005 ;6:41	Polymorphisms of the Flavin Containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians		136132	10724	2	2005	 These results suggest that the variants in the FMO3 gene do not predispose to essential hypertension in this population.											
123445		hypertension	CARDIOVASCULAR	CARD		1	1q23-q25	FMO3	169326659	169353583		Cashman, J. R.  et al. 2001	11717182				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDPinfo	2328	Hs.445350			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Dec;29(12):1629-37	Population distribution of human flavin-containing monooxygenase form 3: gene polymorphisms		136132	16718	2	2001	tatistically significant heterogeneity in the relative frequencies of single and multiple site alleles, haplotypes, and genotypes of the human FMO3 among ethnic subdivisions suggests that population differences in the susceptibility of humans to abnormal metabolism or adverse drug reactions for chemicals metabolized by human FMO3 could exist.	Cohort male and female blood bank donors representative of non-Hispanic Caucasians, non-Hispanic African Americans, Hispanics, and Asians sampled from the United States United States 										
123446	N	global DNA methylation defect	OTHER	OTH	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303	n	Burman RW et al. 1999	10521303				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			KGB	2332	Hs.103183			American journal of human genetics. 1999 Nov;65(5):1375-86	Hypomethylation of an expanded FMR1 allele is not associated with a global DNA methylation defect.		309550	2702	1	1999												
123441		leukemia, myeloid	CANCER	CAN		1	1q23-q25	FMO3	169326659	169353583		Zeng, W.  et al. 2003	12903042				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDPinfo	2328	Hs.445350			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):318-21	[The frequency distribution of flavin-containing monooxygenase 3 mutant alleles in 28 populations from Yunnan]		136132	10721	2	2003	 It was found that the frequencies of FMO3 mutant alleles varied not only in different ethnic groups, but also in different populations that stemmed from the same ethnic group.	Cohort individuals of 28 populations originating from 24 ethnic minorities Yunnan, China 										
123442		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli	1	1q23-q25	FMO3	169326659	169353583		Hisamuddin, I. M.  et al. 2004	15623613				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDPinfo	2328	Hs.445350			Clinical cancer research. 2004 Dec;10(24):8357-62	Genetic polymorphisms of human flavin monooxygenase 3 in sulindac-mediated primary chemoprevention of familial adenomatous polyposis.		136132	10722	2	2004	 Polymorphisms in FMO3, particularly at the E158K and E308G loci, may reduce activity in catabolizing sulindac and result in an increased efficacy to prevent polyposis in FAP.	Cohort 41 familial adenomatous polyposis patients 	sulindac									
123443		colon polyps	CANCER	CAN	Adenoma|Adenomatous Polyps|Adenomatous Polyposis Coli|Colorectal Neoplasms	1	1q23-q25	FMO3	169326659	169353583		Hisamuddin, I. M.  et al. 2005	16214918				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDPinfo	2328	Hs.445350			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2366-9	Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis.		136132	10723	2	2005			sulindac									
123438		leukemia, myeloid	CANCER	CAN		1	1q23-q25	FMO2	169421011	169448446		Krueger, S. K.  et al. 2005	15864117				Flavin containing monooxygenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001460.2	African American		CDC GDPinfo	2327	Hs.144912			Pharmacogenetics and genomics. 2005 Apr;15(4):245-56	Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics.		603955	10719	2	2005	 SNPs would not alter FMO2 activity in individuals possessing at least one FMO2*1 allele. It is likely that these SNPs will segregate similarly in African-American populations. Therefore, estimates that 26% of African-Americans and 2-7% of Hispanic-Americans have at least one FMO2*1 allele should closely reflect the percentages producing active FMO2 protein.	Cohort 154 Hispanic individuals 										
123439		leukemia, myeloid	CANCER	CAN		1	1q23-q25	FMO2	169421011	169448446		Krueger, S. K.  et al. 2004	15355885				Flavin containing monooxygenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001460.2	Mexican		CDC GDPinfo	2327	Hs.144912			Drug metabolism and disposition:  the biological fate of chemicals. 2004 Dec;32(12):1337-40	Differences in FMO2*1 allelic frequency between Hispanics of Puerto Rican and Mexican descent		603955	16717	2	2004	There was strong evidence (p=0.0066) that FMO2*1 is more common among Puerto Ricans (7%) than individuals of Mexican descent (2%). The overall occurrence of FMO2*1 among Hispanics of all origins is estimated to be between 2 and 7%.	Cohort 632 Hispanic individuals, including 280 individuals of Mexican origin and 327 individuals of Puerto Rican origin 										
123440		hypertension	CARDIOVASCULAR	CARD		1	1q23-q25	FMO3	169326659	169353583		Lattard, V.  et al. 2003	12814961				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4	African American		CDC GDPinfo	2328	Hs.445350			Drug metabolism and disposition:  the biological fate of chemicals. 2003 Jul;31(7):854-60	Two new polymorphisms of the FMO3 gene in Caucasian and African-American populations: comparativegenetic and functional studies.		136132	10720	2	2003	Based on the functional activity of the variant FMO3 enzymes, it is likely that population differences exist for compounds primarily metabolized by FMO3.	Cohort 134/120 African Americans (n=134) and Caucasians (n=120) US 										
123435		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	13	13q12	FLT3	27475410	27572729		Boissel, N.  et al. 2005	16046528				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Blood. 2005 Nov;106(10):3618-20	Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype.		136351	21483	2	2005												
123436		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729		Bowen, D. T.  et al. 2002	12468438				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		136351	26011	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
123437		leukemia, myeloid	CANCER	CAN		1	1q23-q25	FMO2	169421011	169448446		Whetstine, J. R.  et al. 2000	11042094				Flavin containing monooxygenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001460.2			CDC GDPinfo	2327	Hs.144912			Toxicology and applied pharmacology. 2000 Nov;168(3):216-24	Ethnic differences in human flavin-containing monooxygenase 2 (FMO2) polymorphisms: detection ofexpressed protein in African-Americans.		603955	10718	2	2000	functional FMO2 is expressed in only a small percentage of the overall population. However, in certain ethnic groups, active pulmonary FMO2 enzyme will be present in a significant number of individuals.	Cohort 332 organ donors from Intl Inst for Adv of Med, African-American population (n = 180), Caucasians (n = 52), and Koreans (n = 100) that were unrelated African-American, Caucasian, Korean 										
123431		leukemia, acute myeloid	CANCER	CAN		13	13q12	FLT3	27475410	27572729		Wang, L. H.  et al. 2005	16185475				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Zhonghua xue ye xue za zhi. 2005 Jun;26(6):335-8	[Detection of point mutation at second tyrosine kinase domain of FLT3 gene in acute myeloid leukemia]		136351	16715	2	2005												
123432		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729		Auewarakul, C. U.  et al. 2005	16213360				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1		Thailand	CDC GDPinfo	2322	Hs.507590			Cancer genetics and cytogenetics. 2005 Oct;162(2):127-34	Mutations of the FLT3 gene in adult acute myeloid leukemia: determination of incidence andidentification of a novel mutation in a Thai population.		136351	16716	2	2005												
123433		leukemia	CANCER	CAN	Leukemia, Promyelocytic, Acute	13	13q12	FLT3	27475410	27572729		Kuchenbauer, F.  et al. 2005	16029447				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			British journal of haematology. 2005 Jul;130(2):196-202	Impact of FLT3 mutations and promyelocytic leukaemia-breakpoint on clinical characteristics and prognosis in acute promyelocytic leukaemia.		136351	18297	2	2005												
123434		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	13	13q12	FLT3	27475410	27572729		Schnittger, S.  et al. 2005	16076867				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		136351	21482	2	2005												
123427		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729		Yanada, M.  et al. 2005	15959528				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Leukemia. 2005 Aug;19(8):1345-9	Prognostic significance of FLT3 internal tandem duplication and tyrosine kinase domain mutations for acute myeloid leukemia: a meta-analysis.		136351	16710	2	2005												
123428		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729		Noguera, N. I.  et al. 2005	15973451				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Leukemia. 2005 Aug;19(8):1479-82	Simultaneous detection of NPM1 and FLT3-ITD mutations by capillary electrophoresis in acute myeloid leukemia.		136351	16711	2	2005												
123429		leukemia	CANCER	CAN	Leukemia|Myelodysplastic Syndromes|Leukocytosis|Acute Disease	13	13q12	FLT3	27475410	27572729		Wang, L.  et al. 2005	15996732				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1	Chinese		CDC GDPinfo	2322	Hs.507590			Leukemia research. 2005 Dec;29(12):1393-8	Analysis of FLT3 internal tandem duplication and D835 mutations in Chinese acute leukemia patients.		136351	16712	2	2005												
123430		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729		Goemans, B. F.  et al. 2005	16015387				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Leukemia. 2005 Sep;19(9):1536-42	Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia.		136351	16713	2	2005												
123423		leukemia, acute lymphoblastic	CANCER	CAN		13	13q12	FLT3	27475410	27572729		Xu, B.  et al. 2005	16234090				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Di yi jun yi da xue xue bao. 2005 Oct;25(10):1207-10	Detection of FLT3 gene and FLT3/ITD mutation by polymerase chain reaction-single-strand conformation polymorphism in patients with acute lymphoblastic leukemia.		136351	10716	2	2005	 FLT3 gene can be detected in both B-and T-lineage ALL patients, but more frequently in the former. In B-lineage ALL patients, FLT3 gene is more frequent in cases with undifferentiated than those with differentiated blast cells. FLT3/ITD is rarely detected in ALL patients and FLT3/ITD mutation detection might be helpful to identify the genotypes and evaluate the prognosis of acute leukemia.											
123424	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	13	13q12	FLT3	27475410	27572729			16320249				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Genes, chromosomes & cancer. 2006 Apr;45(4):332-7	D324N single-nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias		136351	10717	2	2005												
123426	Y	leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Translocation, Genetic|Recurrence	13	13q12	FLT3	27475410	27572729		Nanri, T.  et al. 2005	15902284				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Leukemia. 2005 Aug;19(8):1361-6	Mutations in the receptor tyrosine kinase pathway are associated with clinical outcome in patients with acute myeloblastic leukemia harboring t(8;21)(q22;q22).		136351	16709	2	2005	These results suggest that activating mutations in the RTK pathway play a role in part as an additional event leading to the development of t(8;21) AML. The 6-year cumulative incidence of relapse in patients with RTK pathway mutations was 79.8%, compared with 13.5% in patients lacking such mutations (P=0.0029). Furthermore, the 6-year relapse-free survival in patients with mutations was 18% compared to 60% in those without mutations (P=0.0340), indicating that RTK mutations are associated with the clinical outcome in t(8;21) AML	Cohort 37 acute myeloblastic leukemia patients 										
123419		acute promyelocytic leukemia	OTHER	OTH	Leukemia, Promyelocytic, Acute|Acute Disease	13	13q12	FLT3	27475410	27572729		Noguera NI et al. 2002	12399960				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1	Italian		KGB	2322	Hs.507590			Leukemia. 2002 Nov;16(11):2185-9	Alterations of the FLT3 gene in acute promyelocytic leukemia: association with diagnostic characteristics and analysis of clinical outcome in patients treated with the Italian AIDA protocol.		136351	2698	1	2002												
123420		acute promyelocytic leukemia.	CANCER	CAN	Leukemia, Promyelocytic, Acute|Recurrence	13	13q12	FLT3	27475410	27572729		Shih LY 2003	12973844				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			KGB	2322	Hs.507590			Cancer. 2003 Sep;98(6):1206-16	Internal tandem duplication and Asp835 mutations of the FMS-like tyrosine kinase 3 (FLT3) gene in acute promyelocytic leukemia.		136351	2699	1	2003	 The current study found that ITD or Asp835 mutations of the FLT3 gene were present in 36.4% of patients with APL; however, these mutations had no prognostic impact. FLT3/ITD frequently was associated with S-type PML/RAR alpha and with the M3v form of leukemia.											
123421		acute myeloid leukemia	CANCER	CAN	Langerhans Cell Sarcoma|Leukemia, Myeloid|Leukemia, Myelomonocytic, Acute|Leukemia, Monocytic, Acute|Acute Disease	13	13q12	FLT3	27475410	27572729		Andersson A 2004	15059064				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			KGB	2322	Hs.507590	elderly patients, M4/M5 subtypes of leukemia		European journal of haematology. 2004 May;72(5):307-13	Clinical impact of internal tandem duplications and activating point mutations in FLT3 in acute myeloid leukemia in elderly patients.		136351	2700	1	2004	 A correlation was observed between FLT3 abnormalities and leukocytosis, a normal karyotype, and the M4/M5 subtypes of leukemia. However, no clear-cut prognostic impact of FLT3 abnormalities was identified in elderly AML patients.											
123416	Y	skin condition	UNKNOWN	UNK	Skin Diseases|Genetic Predisposition to Disease	1	1q21	FLG	150541274	150564303		Ginger, R. S.  et al. 2005	16261374				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1			CDC GDPinfo	2312	Hs.23783			Archives of dermatological research. 2005 Dec;297(6):235-41	Filaggrin repeat number polymorphism is associated with a dry skin phenotype.		135940	10713	2	2005												
123417	Y	Ewing's sarcoma	OTHER	OTH	"Sarcoma, Ewing's|Neuroectodermal Tumors, Primitive|Bone Neoplasms|"	11	11q24.1-q24.3	FLI1	128069198	128187521		de Alava E et al. 2000	10702401				Friend leukemia virus integration 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002017.2			KGB	2313	Hs.504281	lower proliferative rate		The American journal of pathology. 2000 Mar;156(3):849-55	Association of EWS-FLI1 type 1 fusion with lower proliferative rate in Ewing's sarcoma.		193067	2697	1	2000												
123418		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	3	3p14.3	FLNB	57969166	58133017		Anaya, J. M.  et al. 2002	12077712				Filamin B, beta (actin binding protein 278)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001457.2	Colombian	Colombia	CDC GDPinfo	2317	Hs.476448			Seminars in arthritis and rheumatism. 2002 Jun;31(6):396-405	TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjogren's syndrome.		603381	10714	2	2002	 The data show genetic evidence suggesting that, in Colombians, a region immersed or in the vicinity in the HLA class II system is strongly associated with a predisposition to acquire pSS, which is probably located between the TAP2 and HLA-DQB1 locus. Our results confirm that the HLA-DRB1*0301-DQB1*0201 haplotype participates in the pathogenesis of pSS.	Case:73 Colombian patients with primary Sjogren's syndromec:(95% women);Control:76 healthy controls										
123412	N	maculopathy	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	HMCN1	183970305	184426708		Hayashi, M.  et al. 2004	15370542				Hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031935			CDC GDPinfo	83872	Hs.58877			Ophthalmic genetics. 2004 Jun;25(2):111-9	Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: geneticvariation in laminin genes and in exon 104 of HEMICENTIN-1.		608548	21480	2	2004	Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM. However, as in many instances in similar studies, involvement of rare amino acid-changing variants in a fraction of ARM cannot be ruled out.	Control matched unaffected controls;Case:368 age-related maculopathy patients										
123413		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p23.3	FKBP1B	24126131	24140054		Benjafield, A.  et al. 2003	14616768				FK506 binding protein 1B, 12.6 kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004116.2			CDC GDPinfo	2281	Hs.306834			Clinical genetics. 2003 Nov;64(5):433-8	Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension.		600620	21481	2	2003	Our study thus suggests possible involvement of EDNRA in essential HT.	Case:155 essential hypertensive patients with two hypertensive parents;Control:245 normotensives whose parents were both normotensive										
123414	Y	depression	PSYCH	PSY		6	6p21.3-21.2	FKBP5	35649344	35804375		Binder, E. B.  et al. 2004	15565110				FK506 binding protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004117.2			CDC GDPinfo	2289	Hs.407190			Nature genetics. 2004 Dec;36(12):1319-25	Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment		602623	10711	2	2004	These findings support a central role of genes regulating the HPA axis in the causality of depression and the mechanism of action of antidepressant drugs.	Case:294 depressed individuals (Caucasians by self report) admitted to the Max-Planck Institute of Psychiatry:Munich, Germany;Control:399 matched controls (ethnicity, sex, age), randomly selected from a Munich-based community without presence of anxiety or affective disorders:Munich, Germany	antidepressants									
123409		hereditary leiomyomatosis	CANCER	CAN	Leiomyomatosis|Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	1	1q42.1	FH	239727526	239749677		Toro JR 2003	12772087				Fumarate hydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000143.2		North America	KGB	2271	Hs.498239			American journal of human genetics. 2003 Jul;73(1):95-106	Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.			2689	1	2003												
123410		leiomyoma	OTHER	OTH	Leiomyoma|Carcinoma, Renal Cell|Uterine Neoplasms|	1	1q42.1	FH	239727526	239749677		Lehtonen R 2004	14695314				Fumarate hydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000143.2			KGB	2271	Hs.498239			The American journal of pathology. 2004 Jan;164(1):17-22	Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.			2690	1	2004												
123411		macular degeneration	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	HMCN1	183970305	184426708		McKay, G. J.  et al. 2004	15467524				Hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031935	Irish	Ireland	CDC GDPinfo	83872	Hs.58877			Molecular vision [electronic resource]. 2004 Sep;10:682-7	a novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among northern irish age related macular degeneration patients		608548	16706	2	2004	 We describe a rapid assay for the genotyping of the Gln5345Arg mutation using real-time fluorescence PCR to facilitate rapid processing of samples through combined amplification and detection steps. These characteristics are suitable for a clinical setting where high throughput diagnostic procedures are required. The frequency of this mutation within the Northern Ireland population has been estimated at 0.2%, concurring with previous findings that this mutation is a rare variant associated with AMD. A rapid diagnostic assay will facilitate a reliable and convenient evaluation of the frequency of the Gln5345Arg mutation and its association with AMD within other populations.	Control:163:controls;Case:508/25 affected age related macular degeneration patients (n=508) and individuals possibly affected (n=25) Northern Ireland										
123406		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	8	8p22-p21.3	FGL1	17766179	17812154		Saito, T.  et al. 2004	15063762				Fibrinogen-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004467.3		Japan	CDC GDPinfo	2267	Hs.491143			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		605776	28220	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
123407	Y	periodontitis	IMMUNE	IMM	Periodontitis	7	7q11.23	FGL2	76660623	76667086		Suzuki, A.  et al. 2004	15490304				Fibrinogen-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006682.2		Japan	CDC GDPinfo	10875	Hs.520989			Odontology. 2004 Sep;92(1):43-7	Large-scale investigation of genomic markers for severe periodontitis.		605351	24454	2	2004	These results suggest that SNPs in the GNRH1, PIK3R1, DPP4, FGL2, and CALCR genes are genomic markers for severe periodontitis. Our findings indicate the necessity of analyzing SNPs in genes on a large scale (i.e., genome-wide approach), to identify genomic markers for periodontitis.	Control:19 healthy volunteers;Case:22 Japanese patients with severe periodontitis										
123408		cutaneous and uterine leiomyomata	OTHER	OTH	Leiomyoma|Skin Neoplasms|Uterine Neoplasms|	1	1q42.1	FH	239727526	239749677		Martinez-Mir A 2003	14632190				Fumarate hydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000143.2			KGB	2271	Hs.498239			The Journal of investigative dermatology. 2003 Oct;121(4):741-4	Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.			2688	1	2003												
123403		myocardial infarct	CARDIOVASCULAR	CARD		4	4q28	FGG	155744735	155753352		Mannila, M. N.  et al. 2005	15735812				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDPinfo	2266	Hs.546255			Thrombosis and haemostasis. 2005 Mar;93(3):570-7	Contribution of haplotypes across the fibrinogen gene cluster to variation in risk of myocardial infarction.		134850	24451	2	2005	In conclusion, fibrinogen haplotypes, but not SNPs in isolation, are associated with variation in risk of MI.	Case:377 postinfarction patients;Control:387 healthy individuals										
123404		myocardial infarct; thromboembolism, venous; thrombosis, deep vein	CARDIOVASCULAR	CARD		4	4q28	FGG	155744735	155753352		Ivaskevicius, V.  et al. 2005	15795540				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4	Caucasian		CDC GDPinfo	2266	Hs.546255			Blood coagulation & fibrinolysis. 2005 Apr;16(3):205-8	gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.		134850	24452	2	2005	From these data we estimated that homozygous individuals for gammaAla82Gly should occur at a	Cohort 200 blood donors 										
123405		fibrinogen	METABOLIC	MET	Venous Thrombosis	4	4q28	FGG	155744735	155753352		Uitte de Willige, S.  et al. 2005	16144795				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDPinfo	2266	Hs.546255			Blood. 2005 Dec;106(13):4176-83	Genetic variation in the fibrinogen gamma gene increases the risk of deep venous thrombosis by reducing plasma fibrinogen {gamma}' levels.		134850	24453	2	2005												
123400		Aalpha and gamma fibrinogen plasma levels	OTHER	OTH		4	4q28	FGG	155744735	155753352		Menegatti M et al. 2001	11562340				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			KGB	2266	Hs.546255			Thrombosis research. 2001 Aug;103(4):299-307	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.		134850	2687	1	2001	In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.	Cohort 200 healthy individuals Italy										
123401		fibrinogen	OTHER	OTH		4	4q28	FGG	155744735	155753352		Menegatti, M.  et al. 2001	11562340				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDPinfo	2266	Hs.546255			Thrombosis research. 2001 Aug;103(4):299-307	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.		134850	21479	2	2001	In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.	Cohort 200 healthy individuals Italy 										
123402	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGG	155744735	155753352		Boekholdt, S. M.  et al. 2001	11748101				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDPinfo	2266	Hs.546255			Circulation. 2001 Dec;104(25):3063-8	Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review.		134850	24450	2	2001	 Associations between these genetic variations and myocardial infarction were weak or absent. In the absence of clinical implications, our results indicate that screening of patients with myocardial infarction for these genetic variations is not warranted.											
123397		breast cancer; colorectal cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Lymphatic Metastasis	5	5q35.1-qter	FGFR4	176446526	176457732		Spinola, M.  et al. 2005	16012724	Arg(388)			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDPinfo	2264	Hs.165950			Oncology reports. 2005 Aug;14(2):415-9	FGFR4 Gly388Arg polymorphism and prognosis of breast and colorectal cancer.		134935	10707	2	2005												
123398		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	5	5q35.1-qter	FGFR4	176446526	176457732		Spinola, M.  et al. 2005	16061909	Arg(388)			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDPinfo	2264	Hs.165950			Journal of clinical oncology. 2005 Oct;23(29):7307-11	Functional FGFR4 Gly388Arg polymorphism predicts prognosis in lung adenocarcinoma patients.		134935	10708	2	2005	 This study suggests that FGFR4 Gly388Arg polymorphism may predict prognosis in lung adenocarcinoma.											
123399		Aalpha and gamma fibrinogen plasma levels	OTHER	OTH		4	4q28	FGG	155744735	155753352		Menegatti M et al. 2001	11562340				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			KGB	2266	Hs.546255			Thrombosis research. 2001 Aug;103(4):299-307	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.		134850	2686	1	2001	In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.	Cohort 200 healthy individuals Italy										
123394	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Disease Progression	5	5q35.1-qter	FGFR4	176446526	176457732		Bange, J.  et al. 2002	11830541	Arg(388)			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDPinfo	2264	Hs.165950			Cancer research. 2002 Feb;62(3):840-7	Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele.		134935	10704	2	2002	Our results support the conclusion that the FGFR4 Arg(388) allele represents a determinant that is innocuous in healthy individuals but predisposes cancer patients for significantly accelerated disease progression.	Cohort 84 breast cancer patients 										
123395	Y	bone cancer; soft tissue sarcoma	CANCER	CAN	Sarcoma|Bone Neoplasms|Soft Tissue Neoplasms|Neoplasm Metastasis	5	5q35.1-qter	FGFR4	176446526	176457732		Morimoto, Y.  et al. 2003	14601095	Arg(388)			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDPinfo	2264	Hs.165950			Cancer. 2003 Nov;98(10):2245-50	Single nucleotide polymorphism in fibroblast growth factor receptor 4 at codon 388 is associated with prognosis in high-grade soft tissue sarcoma.		134935	10705	2	2003	 In the current study, the authors found a significant correlation between FGFR4 SNP and prognosis in patients with soft tissue sarcoma, although the samples were comprised of various histologic types. This SNP might be used to improve the prediction of clinical prognosis and lead to new treatment strategies in patients with soft tissue sarcomas.	Control:102 healthy volunteers;Case:143 patients with high-grade bone and soft tissue sarcomas at Okayama University Hospital:Japan:1986-2002										
123396	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Metastasis|Disease Progression|Recurrence	5	5q35.1-qter	FGFR4	176446526	176457732		Wang, J.  et al. 2004	15448004	Arg(388)			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDPinfo	2264	Hs.165950			Clinical cancer research. 2004 Sep;10(18 Pt 1):6169-78	The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression.		134935	10706	2	2004	 The FGFR-4 Arg388 allele is associated with both an increased incidence and clinical aggressiveness of prostate cancer and results in changes in cellular motility and invasiveness in immortalized prostate epithelial cells consistent with the promotion of metastasis.	Case men undergoing radical prostatectomy;Control:controls										
123391		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Disease Progression|Recurrence	4	4p16.3	FGFR3	1764831	1780396		Hernandez, S.  et al. 2005	16061860				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			CDC GDPinfo	2261	Hs.1420			Clinical cancer research. 2005 Aug;11(15):5444-50	FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution andlack of association with prognosis.		134934	16700	2	2005												
123392	Y	Cancer progression and tumor cell motility	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Disease Progression	5	5q35.1-qter	FGFR4	176446526	176457732		Bange J et al. 2002	11830541				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			KGB	2264	Hs.165950			Cancer research. 2002 Feb;62(3):840-7	Cancer progression and tumor cell motility are associated with the FGFR4 Arg(388) allele.		134935	2684	1	2002	Our results support the conclusion that the FGFR4 Arg(388) allele represents a determinant that is innocuous in healthy individuals but predisposes cancer patients for significantly accelerated disease progression.	Cohort 84 breast cancer patients										
123393	Y	high-grade soft tissue sarcoma	CANCER	CAN	Sarcoma|Bone Neoplasms|Soft Tissue Neoplasms|Neoplasm Metastasis	5	5q35.1-qter	FGFR4	176446526	176457732		Morimoto Y 2003	14601095	codon 388			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			KGB	2264	Hs.165950			Cancer. 2003 Nov;98(10):2245-50	Single nucleotide polymorphism in fibroblast growth factor receptor 4 at codon 388 is associated with prognosis in high-grade soft tissue sarcoma.		134935	2685	1	2003	 In the current study, the authors found a significant correlation between FGFR4 SNP and prognosis in patients with soft tissue sarcoma, although the samples were comprised of various histologic types. This SNP might be used to improve the prediction of clinical prognosis and lead to new treatment strategies in patients with soft tissue sarcomas.	Control:102 healthy volunteers;Case:143 patients with high-grade bone and soft tissue sarcomas at Okayama University Hospital:Japan:1986-2002										
123388	Y	multiple myeloma	CANCER	CAN	Multiple Myeloma|Cell Transformation, Neoplastic|Bone Diseases, Developmental|Translocation, Genetic	4	4p16.3	FGFR3	1764831	1780396		Fracchiolla NS et al. 1998	9763594				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			KGB	2261	Hs.1420	skeletal disorders		Blood. 1998 Oct;92(8):2987-9	FGFR3 gene mutations associated with human skeletal disorders occur rarely in multiple myeloma.		134934	2681	1	1998												
123389		achondroplasia	DEVELOPMENTAL	DEV	Achondroplasia	4	4p16.3	FGFR3	1764831	1780396		Su, Y. N.  et al. 2004	15221641				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			CDC GDPinfo	2261	Hs.1420			Journal of human genetics. 2004 ;49(8):399-403	Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.		134934	16698	2	2004	In conclusion, we demonstrated that DHPLC is an efficient, accurate, and sensitive technique to detect the single gene mutation of achondroplasia in clinical applications.	Cohort 17/120 Achondroplasia (n=17) and unaffected (n=120) cases 										
123390		craniosynostosis	OTHER	OTH	Craniosynostoses|Intracranial Hypertension|Syndrome	4	4p16.3	FGFR3	1764831	1780396		Thomas, G. P.  et al. 2005	15915095				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			CDC GDPinfo	2261	Hs.1420			The Journal of craniofacial surgery. 2005 May;16(3):347-52; discussion 353-4	FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.		134934	16699	2	2005	This highlights the need for genetic analysis and long-term clinical follow-up in apparently "isolated" coronal synostosis.	Cohort 76 patients with isolated coronal synostosis operated on in a single dedicated craniofacial unit over 25 years 										
123385	Y	craniosynostosis	OTHER	OTH	Craniofacial Dysostosis|Craniosynostoses|Acrocephalosyndactylia	10	10q26	FGFR2	123227844	123347962		Kan, S. H.  et al. 2002	11781872				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3			CDC GDPinfo	2263	Hs.533683			American journal of human genetics. 2002 Feb;70(2):472-86	Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.		176943	16697	2	2002	We conclude that  the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.	Case:259 patients with craniosynostosis in whom mutations in other genes (e.g., FGFR1, FGFR3, and TWIST)										
123386	Y	thanatophoric dysplasia	OTHER	OTH	Thanatophoric Dysplasia	4	4p16.3	FGFR3	1764831	1780396		Nerlich AG et al. 1996	8723102				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			KGB	2261	Hs.1420			American journal of medical genetics. 1996 May;63(1):155-60	Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.		134934	2679	1	1996												
123387	Y	craniosynostosis	OTHER	OTH	Craniosynostoses	4	4p16.3	FGFR3	1764831	1780396		Moko SB et al. 2001	11467490				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2		New Zealand	KGB	2261	Hs.1420			Journal of cranio-maxillo-facial surgery. 2001 Feb;29(1):22-4	New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.		134934	2680	1	2001	 Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses.											
123382		fibrous dysplasia	OTHER	OTH	Fibrous Dysplasia of Bone	12	12p13.3	FGF23	4347653	4359155		Riminucci M 2003	12952917				Fibroblast growth factor 23	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020638.2			KGB	8074	Hs.287370			The Journal of clinical investigation. 2003 Sep;112(5):683-92	FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.		605380	6563	1	2003												
123383	Y	Chiari type I malformation and syringomyelia	OTHER	OTH	Craniofacial Dysostosis|Syringomyelia|Arnold-Chiari Malformation	10	10q26	FGFR2	123227844	123347962		Fujisawa H et al. 2002	12186468				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3			KGB	2263	Hs.533683			Journal of neurosurgery. 2002 Aug;97(2):396-400	A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.		176943	2682	1	2002	 The FGFR2 missense mutation was detected in Crouzon syndrome but not in sporadic Chiari I with syringomyelia or lambdoid synostosis. A novel FGFR2 mutation, Tyr281Cys, was found in familial Crouzon syndrome with Chiari I and syringomyelia. It may be informative to look for this in patients with Crouzon syndrome and associated syringomyelia.											
123384	Y	Pfeiffer syndrome	OTHER	OTH	Acrocephalosyndactylia	10	10q26	FGFR2	123227844	123347962		Tartaglia M et al. 1997	9150725				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3			KGB	2263	Hs.533683			Human genetics. 1997 May;99(5):602-6	Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.		176943	2683	1	1997												
123378		ataxia (SCA)	NEUROLOGICAL	NEUR	Ataxia|Genetic Predisposition to Disease	13	13q34	FGF14	101173035	101852125		Dalski, A.  et al. 2004	15470364				Fibroblast growth factor 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004115.2			CDC GDPinfo	2259	Hs.508616			European journal of human genetics. 2005 Jan;13(1):118-20	Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms inpatients with inherited ataxias.		601515	16694	2	2004	In one patient, we detected a novel single base pair deletion in exon 4 (c.487delA) creating a frameshift mutation. In addition, we found DNA polymorphisms in exon 1a, 4, and 5, an amino-acid exchange at position 124, as well as a single-nucleotide polymorphism in the 3'-untranslated region of exon 5.	Control:208 control samples;Case:208 nonrelated familial ataxia cases										
123379		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	13	13q34	FGF14	101173035	101852125		Brusco, A.  et al. 2004	15148151				Fibroblast growth factor 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004115.2	Italian	Italy	CDC GDPinfo	2259	Hs.508616			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		601515	27424	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
123380		ataxia (SCA)	NEUROLOGICAL	NEUR		4	4q26-q27	FGF2	123967312	124038840		Beranek, M.  et al. 2003	12590983			promoter	Fibroblast growth factor 2 (basic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002006.3	Czech		CDC GDPinfo	2247	Hs.284244			Human immunology. 2003 Mar;64(3):374-7	Genetic variation in the promoter region of the basic fibroblast growth factor gene.		134920	16695	2	2003	Newly identified variants in the bFGF gene promoter appear to be common polymorphisms in the Czech population.	Cohort 126 healthy Caucasian subjects 										
123375	N	Aarskog-Scott syndrome	DEVELOPMENTAL	DEV	Craniofacial Abnormalities|Urogenital Abnormalities|Syndrome|	X	Xp11.21	FGD1	54488611	54539324		Orrico A	14560308				FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004463.2			KGB	2245	Hs.631767			European journal of human genetics. 2004 Jan;12(1):16-23	Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.		305400	2678	1	2004												
123376	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	5	5q31	FGF1	141953305	142057802		Yamagata, H.  et al. 2004	15358178				Fibroblast growth factor 1 (acidic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000800.2			CDC GDPinfo	2246	Hs.483635			Biochemical and biophysical research communications. 2004 Aug;321(2):320-3	Promoter polymorphism in fibroblast growth factor 1 gene increases risk of definite Alzheimer's disease		131220	21477	2	2004	The results showed that the FGF1 gene is associated with autopsy-confirmed AD.	Case:100 Japanese autopsy-confirmed late-onset Alzheimer's disease patients;Control:106 age-matched non-demented controls										
123377		brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	5	5q31	FGF1	141953305	142057802		Yoneyama, T.  et al. 2003	12750963				Fibroblast growth factor 1 (acidic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000800.2			CDC GDPinfo	2246	Hs.483635			Journal of human genetics. 2003 ;48(6):309-14	Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.		131220	21478	2	2003	No associations of FBN2 and LOX with IA were detected in the present study.	Case:172 intracranial aneurysm patients;Control:192:controls										
123372		blood pressure, arterial	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Sass, C.  et al. 2004	15076187				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		134830	27913	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
123373		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Adams, G. T.  et al. 2003	12871600				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		134830	28045	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
123374		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	4	4q28	FGB	155703595	155711688		Zee, R. Y.  et al. 2002	12082592				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		134830	28531	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
123369		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	4	4q28	FGB	155703595	155711688		Hefler, L.  et al. 2004	14706682				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		134830	27422	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
123370		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Rubattu, S.  et al. 2005	15968394				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Italy	CDC GDPinfo	2244	Hs.300774			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		134830	27423	2	2005												
123371		lipid metabolism	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Pallaud, C.  et al. 2001	11714857				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		134830	27716	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
123366		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688			16324093				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Italy	CDC GDPinfo	2244	Hs.300774			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		134830	26010	2	2005												
123367		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	4	4q28	FGB	155703595	155711688		French, J. K.  et al. 2003	12514663				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		134830	26871	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
123368	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688			12615788				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		134830	26872	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
123362		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases	4	4q28	FGB	155703595	155711688		Fox, C. S.  et al. 2004	14963283				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Massachusetts	CDC GDPinfo	2244	Hs.300774			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of Association Between Polymorphisms in the Hemostatic Factor Pathway Genes and Carotid Intimal Medial Thickness. The Framingham Heart Study		134830	24448	2	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort 										
123363		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	4	4q28	FGB	155703595	155711688			16353042				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Kardiologiia. 2005 ;45(12):17-24	[Associations of Hemostasis Factors Genes With Early Development of Ischemic Heart Disease and Manifestation of Myocardial Infarction in Young Age.]		134830	24449	2	2005	 Thus we obtained data on the presence of independent association between IHD risk and manifestation of MI in young age with genotype TT of polymorphic marker C(-426)T of F5 gene as well as with traditional risk factors of IHD.											
123364		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Pongracz, E.  et al. 2002	12122980				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Europe|Hungary	CDC GDPinfo	2244	Hs.300774			Ideggyogy Sz. 2002 Mar;55(4-Mar):111-7	[Genetics of blood coagulation in young stroke patients]		134830	26008	2	2002	 Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.	Control:173 healthy blood donors;Case:253 patients with stroke										
123359		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	4	4q28	FGB	155703595	155711688		Xenophontos, S. L.  et al. 2002	12518110				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Greek	Cyprus	CDC GDPinfo	2244	Hs.300774			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		134830	24445	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
123360		placental vascular complications	HEMATOLOGICAL	HEM	Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Abruptio Placentae|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thrombophilia|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Camilleri, R. S.  et al. 2004	15091001				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Blood coagulation & fibrinolysis. 2004 Mar;15(2):139-47	-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications.		134830	24446	2	2004	These data suggest that factor V Leiden is associated with an increased risk of obstetric complications, but that the -455A allele of beta-fibrinogen, PGM and MTHFR do not appear to be implicated.	Control:100 parous women with no history of obstetric or medical complications;Case:147 women with obstetric complications associated with placental vascular disease										
123361		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Donati, M. B.  et al. 2001	11926770				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Haematologica. 2001 Nov;86(11 Suppl 2):28-30	Genetic polymorphisms of clotting factors and coronary heart disease		134830	24447	2	2001	Review article											
123356		myocardial infarct; thromboembolism, venous; thrombosis, deep vein	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Ivaskevicius, V.  et al. 2005	15795540				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Caucasian		CDC GDPinfo	2244	Hs.300774			Blood coagulation & fibrinolysis. 2005 Apr;16(3):205-8	gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.		134830	21474	2	2005	From these data we estimated that homozygous individuals for gammaAla82Gly should occur at a	Cohort 200 blood donors 										
123357		fibrinogen	METABOLIC	MET	Venous Thrombosis	4	4q28	FGB	155703595	155711688		Uitte de Willige, S.  et al. 2005	16144795				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Blood. 2005 Dec;106(13):4176-83	Genetic variation in the fibrinogen gamma gene increases the risk of deep venous thrombosis by reducing plasma fibrinogen {gamma}' levels.		134830	21475	2	2005												
123358	Y	angina	CARDIOVASCULAR	CARD	Angina, Unstable	4	4q28	FGB	155703595	155711688		Yongbin, N.  et al. 2004	15346842				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Chinese		CDC GDPinfo	2244	Hs.300774			Clinical cardiology. 2004 Aug;27(8):455-8	Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients		134830	21476	2	2004	 Chinese patients with UA had increased frequencies of GP Ib alpha C/B genotype and Bbeta fibrinogen 448A allele. These data suggest that some genetic factors may influence the development of UA.	Case:69 Chinese patients (43 men, 26 women) with unstable:angina;Control:69 control subjects without coronary artery disease										
123353		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688		Doggen CJ  et al. 2000	11054085				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			British journal of haematology. 2000 Sep;110(4):935-8	Fibrinogen polymorphisms are not associated with the risk of myocardial infarction.		134830	21471	2	2000	We conclude that  a genetic propensity to high fibrinogen levels does not affect the risk of myocardial infarction. This is evidence against a causal role for fibrinogen levels in the aetiology of myocardial infarction.	Case:560 patients with a myocardial infarction In the Study of Myocardial Infarctions Leiden:Leiden;Control:646 control subjects										
123354		fibrinogen	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Liang, L.  et al. 2005	16086292				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):457-61	[Nine polymorphisms of fibrinogen gene and their association with plasma fibrinogen levels in Hainan Han population]		134830	21472	2	2005	 There was linkage disequilibrium between the fibrinogen gene loci. The beta -455G/A beta 448G/A, alpha Fg Taq I polymorphisms were associated with the difference in plasma fibrinogen in men. A(-455), T(-148) and alpha Taq I T1 alleles were associated with higher fibrinogen levels.											
123355		myocardial infarct	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Mannila, M. N.  et al. 2005	15735812				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Thrombosis and haemostasis. 2005 Mar;93(3):570-7	Contribution of haplotypes across the fibrinogen gene cluster to variation in risk of myocardial infarction.		134830	21473	2	2005	In conclusion, fibrinogen haplotypes, but not SNPs in isolation, are associated with variation in risk of MI.	Case:377 postinfarction patients;Control:387 healthy individuals										
123350		myocardial infarct; lipoprotein; obesity	CARDIOVASCULAR	CARD	Myocardial Infarction|Obesity|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Pegoraro, R. J.  et al. 2005	16049588				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Indian		CDC GDPinfo	2244	Hs.300774			Cardiovascular journal of South Africa. 2005 May-Jun;16(3):152-7	Coagulation gene polymorphisms as risk factors for myocardial infarction in young Indian Asians.		134830	21468	2	2005	 In young Indian Asians who are both obese and smoke, the beta-fibrinogen genetic polymorphisms -455G-->A and -148C-->T, which are in linkage disequilibrium, are significant risk factors for the development of MI. Factor VII genetic variants, namely the 10 bp promoter insertion/deletion and R353Q polymorphisms, may possibly play a protective role through their association with elevated HDL and low LDL levels, respectively.		smoking (tobacco)									
123351		fibrinogen; factor VII; plasminogen activator inhibitor-1	METABOLIC	MET	Cerebral Infarction|Myocardial Ischemia	4	4q28	FGB	155703595	155711688		Ando, R.  et al. 2002	12141403				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Clinical nephrology. 2002 Jul;58(1):25-32	Association of beta-fibrinogen and factor VII polymorphism with plasma fibrinogen and factor VII levels, and no association of PAI-1 polymorphism with plasma PAI-1 levels in hemodialysis patients.		134830	21469	2	2002	 In HD patients, beta-fibrinogen and factor VII polymorphisms affected plasma levels of fibrinogen and factor VII, respectively. Beta-fibrinogen polymorphism was not an independent but a possible risk factor for CI in HD patients. Further study will be needed to confirm the precise role of 5-fibrinogen polymorphisms in the pathogenesis of CI in HD patients.	Control:100:controls;Case:149 hemodialysis patients										
123352		fibrinogen; thrombosis, venous	METABOLIC	MET	Venous Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Austin, H.  et al. 2000	11027931				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	African American	United States	CDC GDPinfo	2244	Hs.300774			Journal of clinical epidemiology. 2000 Oct;53(10):997-1001	Venous thrombosis in relation to fibrinogen and factor VII genes among African-Americans.		134830	21470	2	2000	The study is limited by its small size. However, despite this limitation, it supports the belief that increased plasma fibrinogen levels are associated with increased venous thrombosis risk. The study also indicated that the HaeIII and the BclI polymorphisms of the beta fibrinogen gene and the MspI polymorphisms of the factor VII gene are not strong determinants of venous thrombosis.	Control:185 control subjects;Case:91 venous thrombosis cases										
123347		thromboembolism, venous; homocysteine; thromboembolism, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis	4	4q28	FGB	155703595	155711688		Harrington, D. J.  et al. 2003	12747593				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):496-500	Genetic variations observed in arterial and venous thromboembolism--relevance for therapy, risk prevention and prognosis.		134830	21465	2	2003	factor V Leiden was found to be a risk factor in venous thrombosis, while the methylenetetrahydrofolate reductase C677T mutation was a significant variable in both venous and arterial thrombosis. In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the -455G/A beta-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.	Cohort 146/199/58 patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) North Western Russia 	vitamins									
123348	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Laasanen, J.  et al. 2002	12151156				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Finnish		CDC GDPinfo	2244	Hs.300774			Obstetrics and gynecology. 2002 Aug;100(2):317-20	Fibrinogen and factor VII promoter polymorphisms in women with preeclampsia.		134830	21466	2	2002	 The G-455A polymorphism of the fibrinogen gene promoter and the decamer insertion or deletion polymorphism of the factor VII gene promoter are unlikely to be major genetic predisposing factors for preeclampsia in subjects from eastern Finland.	Control:115 healthy control pregnant women;Case:133 preeclamptic pregnant women eastern Finland										
123349		thrombosis, deep vein	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Bloemenkamp, K. W.  et al. 2002	12616980				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Vascular pharmacology. 2002 Aug;39(3):131-6	Genetic polymorphisms modify the response of factor VII to oral contraceptive use: an example ofgene-environment interaction.		134830	21467	2	2002	We conclude that  an individual's genetic variation may contribute to the response of plasma factor VII to oral contraceptive use.	Cohort 95 women radomized to receive two types of oral contraceptives 	oral contraceptive									
123344	Y	nephritis, lupus; glomerular microthrombus	IMMUNE	IMM	Lupus Nephritis|Thrombosis	4	4q28	FGB	155703595	155711688		Gong, R.  et al. 2002	11836675				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):5-Jan	[Genetic variations in plasminogen activator inhibitor-1 gene and beta fibrinogen gene associated with glomerular microthrombosis in lupus nephritis and the gene dosage effect]		134830	19387	2	2002	 The above findings indicated that genetic variations in PAI-1 and beta fibrinogen loci might represent risk factors for glomerular microthrombosis in LN. They may have synergetic impact and present gene dosage effect on the susceptibility to this pathological subphenotype.	Case:101 patients with biopsy proven LN with (n=46) and without glomerular microthrombus (n=55);Control:128 unrelated healthy adults		plasminogen activator inhibitor-1 (PAI-1)	675 4G/5G	beta fibrinogen	455 G/A			Y		glomerular microthrombosis in lupus nephritis
123345		fibrinogen; triglyceride	METABOLIC	MET	Arterial Occlusive Diseases|Peripheral Vascular Diseases|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Jamshidi, Y.  et al. 2002	12048138				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Atherosclerosis. 2002 Jul;163(1):183-92	Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial.		134830	21463	2	2002	Thus while these genotypes are a minor determinant of baseline triglyceride and fibrinogen levels, there is little evidence from this study that the magnitude of response to bezafibrate treatment in men with peripheral vascular disease is determined by variation at these loci.	Cohort 158 diabetics Cohort 654 non-diabetics 	bezafibrate smoking (tobacco)									
123346	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	4	4q28	FGB	155703595	155711688		Volzke, H.  et al. 2004	12899665				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		134830	21464	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
123341		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Venous Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Mannila, M. N.  et al. 2004	15583729				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Europe	CDC GDPinfo	2244	Hs.300774			Thrombosis and haemostasis. 2004 Dec;92(6):1240-9	Plasma fibrinogen concentration predicts the risk of myocardial infarction differently in various parts of Europe: effects of beta-fibrinogengenotype and environmental factors. The HIFMECH Study.		134830	16692	2	2004	Thus, plasma fibrinogen concentration contributes differently to MI across Europe, and a disease-related stimulus is required to evoke allele-specific regulation of fibrinogen synthesis.	Control healthy individuals;Case postinfarction patients Stockholm, London, Marseille, San Giovanni Rotondo										
123342		cardiovascular disease; fibrinogen	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Cardiovascular Diseases|Diabetes Mellitus|Genetic Predisposition to Disease|Inflammation	4	4q28	FGB	155703595	155711688		Liu, Y.  et al. 2005	15983960				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			American journal of kidney diseases. 2005 Jul;46(1):78-85	Beta-fibrinogen haplotypes and the risk for cardiovascular disease in a dialysis cohort.		134830	16693	2	2005	 The FGB gene likely does not have an important role in determining the variation in elevated plasma fibrinogen levels or excess CVD risk in dialysis patients.											
123343		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	4	4q28	FGB	155703595	155711688		Shields, D. C.  et al. 2002	12082590				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		134830	17770	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
123338	N	thromboembolism, venous; myocardial infarction; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Artery Disease|Myocardial Infarction|Venous Thrombosis	4	4q28	FGB	155703595	155711688		Blake, G. J.  et al. 2001	11728146			promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Massachusetts|Germany	CDC GDPinfo	2244	Hs.300774			European heart journal. 2001 Dec;22(24):2262-6	Mutation in the promoter region of the beta-fibrinogen gene and the risk of future myocardial infarction, stroke and venous thrombosis		134830	16686	2	2001	 In a large prospective cohort, carriage of the T allele for the C148T mutation in the beta-fibrinogen promoter gene was not associated with an increased subsequent risk of cardiovascular events.	Case:751 participants in the Physicians' Health Study who subsequently developed myocardial infarction, stroke or venous thromboembolism;Control:751 age- and smoking-matched controls										
123339	Y	nephropathy in other diseases; peripheral vascular disease	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetic Angiopathies|Diabetic Retinopathy|Peripheral Vascular Diseases|Diabetes Mellitus, Type 1	4	4q28	FGB	155703595	155711688		Klein, R. L.  et al. 2003	12716802				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Diabetes care. 2003 May;26(5):1439-48	Fibrinogen is a marker for nephropathy and peripheral vascular disease in type 1 diabetes:studies of plasma fibrinogen and fibrinogen gene polymorphism in the DCCT/EDIC cohort.		134830	16688	2	2003	Multiple regression analyses demonstrated that plasma fibrinogen was independently correlated with high albumin excretion rate in men, and with low average ankle-brachial index in women. Fibrinogen was not correlated with the severity of retinopathy. Carotid artery intima-medial thickness was not correlated with fibrinogen, and the G(-455)A polymorphism in the 5' promoter region of the beta-fibrinogen gene did not influence circulating fibrinogen levels. However, the presence of the more common G(-455) allele was associated with greater intima-medial thickness in the internal carotid artery. Last, hyperfibrinogenemia in type 1 diabetes is associated with components of the insulin resistance syndrome trait cluster, and the association is influenced by sex.	Cohort 909 microvascular or macrovascular dissease patients with type 1 diabetes enrolled in the Diabetes ;Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications										
123340		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688			15575509	G(-455)A			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Moscow	CDC GDPinfo	2244	Hs.300774			Genetika. 2004 Oct;40(10):1406-9	[Association of polymorphic marker G(-455)A of gene FGB with coronary artery disease]		134830	16691	2	2004	Allele A of the G(-455)A polymorphic marker has been found to be associated with an increased fibrinogen content of blood plasma in women with CAD.	Case patients with coronary artery disease (CAD), including those who have had myocardial infarction:Moscow;Control:controls										
123334	Y	acute coronary syndrome	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Qin, Q.  et al. 2005	16080811				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):622-6	[Association of matrix metalloproteinase-9 and platelet membrane glycoprotein VI polymorphisms with acute coronary syndrome]		134830	10700	2	2005	 Serum levels of MMP-9 and Fib were independent risk factors of ACS. There was an obvious relationship between the Bbeta-148C/T mutation and high Fib level. No significant difference between controls and ACS patients was found in the frequencies of MMP-9 C-1562T and G5564A, Fib Bbeta-148C/T and GPVI T13254C genotypes and alleles (P > 0.05).											
123336		longevity	AGING	AGE	Thrombosis|Inflammation	4	4q28	FGB	155703595	155711688		Reiner, A. P.  et al. 2005	15939070			promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Atherosclerosis. 2005 Jul;181(1):175-83	Common promoter polymorphisms of inflammation and thrombosis genes and longevity in older adults: thecardiovascular health study.		134830	13702	2	2005												
123337		fibrinogen	METABOLIC	MET	Cardiovascular Diseases	4	4q28	FGB	155703595	155711688		Cook, D. G.  et al. 2001	11296154				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		England	CDC GDPinfo	2244	Hs.300774			American journal of epidemiology. 2001 Apr;153(8):799-806	Ethnic differences in fibrinogen levels: the roleof environmental factors and the beta-fibrinogen gene.		134830	16685	2	2001	These differences in fibrinogen levels were not explained by genotypes or by measured environmental variables, including smoking,	Cohort 453 Whites aged 40-59 years south London, England March 1994 to July 1996 Cohort 459 South Asian Indians south London, England March 1994 to July 1996 Cohort 479 black individuals south London, England March 1994 to July 1996 	smoking (tobacco)									
123331	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Monraats, P. S.  et al. 2005	15735811	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Thrombosis and haemostasis. 2005 Mar;93(3):564-9	-455G/A polymorphism and preprocedural plasma levels of fibrinogen show no association with the risk of clinical restenosis in patients with coronary stent placement.		134830	10696	2	2005	In conclusion, the presence of -455G/A polymorphism in the fibrinogen beta-gene and preprocedural fibrinogen level is not associated with an increased risk of TVR or combined endpoint in a patient population with coronary stent placement. Therefore, these parameters are not worthwhile for stratifying patients at risk for restenosis pre-stenting.	Cohort 2,257 patients successfully genotyped of 2,309 paatients receiving coronary stent 										
123332	N	thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis	4	4q28	FGB	155703595	155711688		Camilleri, R. S.  et al. 2005	15795538	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Blood coagulation & fibrinolysis. 2005 Apr;16(3):193-8	No association between pulmonary embolism or deep vein thrombosis and the -455G/A beta-fibrinogen gene polymorphism.		134830	10697	2	2005	While the results should be interpreted with caution as the frequency of the -455A allele is rare, the -455A allele of the beta-fibrinogen gene does not appear to be associated with an increased risk of PE or DVT.	Control:190:controls;Case:339 pulmonary embolism and/or deep vein thrombosis:patients										
123333		albuminuria; fibrinogen	HEMATOLOGICAL	HEM	Albuminuria|Diabetes Mellitus, Type 2	4	4q28	FGB	155703595	155711688		Javorsky, M.  et al. 2005	15857159				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Physiological research. 2005	Relationship among urinary albumin excretion rate, lipoprotein lipase PvuII polymorphism and plasma fibrinogen in type 2 diabetic patients.		134830	10698	2	2005	Albuminuria is the best predictor of fibrinogen plasma levels in type 2 diabetic patients. Relationship between albuminuria and fibrinogenemia may be modified by the genotype LPL PvuII, which also shows a weak association with plasma fibrinogen level in type 2 diabetes patients.	Cohort 131 type 2 diabetic patients (mean age 62+/-10 years, 33 % male) 										
123328	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		van Goor, M. P.  et al. 2005	15608011	( - 148 C/T)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of neurology, neurosurgery, and psychiatry. 2005 Jan;76(1):121-3	The - 148 C/T fibrinogen gene polymorphism and fibrinogen levels in ischaemic stroke: acase-control study		134830	10693	2	2005	 -148 C/T fibrinogen gene polymorphism was not a strong risk factor for ischaemic stroke. High fibrinogen levels early after acute stroke probably represent an acute phase response.	Case:124 ischemic stroke patients;Control:125:controls										
123329	Y	fibrinogen; Budd-Chiari syndrome	METABOLIC	MET	Budd-Chiari Syndrome|Budd-Chiari Syndrome	4	4q28	FGB	155703595	155711688		Wang, S. Y.  et al. 2004	15631828	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Oct;43(10):753-5	[The relationship between beta fibrinogen gene-455G/A polymorphisms and Budd-Chiari syndrome.]		134830	10694	2	2004	 beta fibrinogen gene -455G/A polymorphism is associated with increased plasma fibrinogen levels and may be an important risk factor in the pathogenesis of BCS.	Control:105 healthy persons;Case:53 patients with Budd-Chiari syndrome										
123330	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Poglajen, G.  et al. 2004	15709716	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Slovene		CDC GDPinfo	2244	Hs.300774			Folia biologica. 2004 ;50(6):203-4	The -455G/A polymorphism of the beta fibrinogen gene and the Bgl II polymorphism of the alpha2beta1 integrin gene and myocardial infarction in patients with type 2 diabetes.		134830	10695	2	2004	The present study demonstrates that neither the Bgl II gene polymorphism nor -455G/A polymorphism in the beta fibrinogen gene is a genetic marker for MI in Slovene population (Caucasians) with type 2 diabetes.	Case:142 Caucasians with type 2 diabetes:Slovakia;Control:234 diabetic subjects with no history of coronary artery disease										
123325	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Bozic, M.  et al. 2003	15170397				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Pathophysiology of haemostasis and thrombosis. 2003 May-Jun;33(3):164-9	Fibrinogen polymorphisms TaqI, HaeIII and BclI are not associated with a higher risk of deep vein thrombosis.		134830	10690	2	2003	It was concluded from these data that the polymorphisms Taq I, Hae III and Bcl I are not major risk factors for DVT.	Case:114 patients with deep vein thrombosis;Control:244 healthy subjects										
123326	Y	hypertension; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension	4	4q28	FGB	155703595	155711688		Dong, Q.  et al. 2004	15192836	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):274-6	[Association between the polymorphism of beta-fibrinogen gene -455G/A and ischemic stroke]		134830	10691	2	2004	 Plasma fibrinogen level could be affected by the beta-fibrinogen gene -455G/A polymorphism. And A(-455) allele may be an independent risk factor for ischemic stroke.	Case:86/85 hypertensive patients with (n=86) and without (n=85) ischemic stroke;Control:90 healthy persons										
123327	Y	cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Sun, H.  et al. 2004	15300640	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):382-5	[Relationship between fibrinogen B beta gene FGB -455G/A polymorphism and atherosclerotic cerebral infarction]		134830	10692	2	2004	 The study demonstrates that A allele of the B beta gene FGB -455G/A polymorphism may be a susceptible predictor of the occurrence of ACI, particularly in smokers.	Case:132 Chinese Han patients with atherosclerotic cerebral:infarction;Control:148 healthy controls matching on age and sex	smoking (tobacco)									
123322	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688		Maghzal, G. J.  et al. 2003	14652632				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		New Zealand	CDC GDPinfo	2244	Hs.300774			Thrombosis and haemostasis. 2003 Dec;90(6):1021-8	Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans.		134830	10686	2	2003	Our results demonstrate that the fibrinogen Bbeta -455 G/A polymorphism is not associated with myocardial infarction and further-more the closely linked Bbeta Arg448Lys protein coding variation does not have an influence on the function nor the structure of the protein in a purified system.	Cohort myocardial infarction patients 										
123323		fibrinogen	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Gong, W.  et al. 2003	14669221			promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Chinese		CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):512-6	[Preliminary study on single nucleotide polymorphisms and linkage disequilibrium in promoter region of fibrinogen B beta gene]		134830	10687	2	2003	 The results show there is a complete linkage disequilibrium between -148C/T and -455G/A and a negative linkage disequilibrium between -854G/A and -148C/T, as well as between -854G/A and -455G/A. This study has provided population genetics data on FGB beta gene promoter in Chinese southern Han population.	Cohort 377 Chinese southern Han individuals 										
123324	Y	cerebrovascular disease, ischemic; fibrinogen	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Bi, S.  et al. 2004	15104216	( -455G/A)		promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Chinese medical sciences journal. 2004 Mar;19(1):5-Jan	Beta-fibrinogen promoter -455 G/A (HaeIII) polymorphism prediction of plasma fibrinogen but not of ischemic cerebrovascular disease		134830	10689	2	2004	 Although a small effect cannot be excluded, beta-fibrinogen gene -455 G/A polymorphism is an independent predictor of plasma fibrinogen, but not of ischemic cerebrovascular disease.	Case:134 acute ischemic cerebrovascular disease (ICVD) cases;Control:166:controls										
123319		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	4	4q28	FGB	155703595	155711688		Sahingur, S. E.  et al. 2003	12710752	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of periodontology. 2003 Mar;74(3):329-37	Association of increased levels of fibrinogen and the -455G/A fibrinogen gene polymorphism with chronic periodontitis.		134830	10683	2	2003	 The results indicate that a higher percentage of chronic periodontitis patients exhibit genotypes associated with higher plasma fibrinogen levels than healthy individuals. Furthermore, periodontitis patients have significantly higher fibrinogen levels compared to healthy individuals. The presence of H1H2 or H2H2 genotypes as well as elevated fibrinogen levels, in conjunction with other factors, may put individuals at higher risk of having periodontal disease, or may result from periodontal infection-genetic interactions.	Control:75 periodontally healthy subjects, matched to age, gender, and race;Case:79 chronic periodontitis patients										
123320	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688		Lewandowski, K.  et al. 2003	14618197				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Kardiologia polska. 2003 Sep;59(9):205-12	Myocardial infarction in patients aged less than 40 years. Frequency of BclI polymorphism in the fibrinogen beta-chain gene and plasma fibrinogen.		134830	10684	2	2003	 1. Polymorphism of BclI betaFbg gene is associated with an increased fibrinogen plasma level. 2. There is no association between BclI polymorphism of betaFbg gene and the number of affected coronary arteries. This may confirm the hypothesis of multi-factorial aetiology of CAD in young patients suffering MI.	Control:78 age- and gender-matched healthy volunteers;Case:99 male patients with premature coronary artery disease who had myocardial infarction in the mean age of 37.4+-/-3.2 years										
123321		Legg-Perthes disease	OTHER	OTH	Legg-Perthes Disease	4	4q28	FGB	155703595	155711688		Dilley, A.  et al. 2003	14629463	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Journal of thrombosis and haemostasis. 2003 Nov;1(11):2317-21	The beta fibrinogen gene G-455-A polymorphism is a risk factor for Legg-Perthes disease		134830	10685	2	2003	Although this difference in the odds ratios is not statistically significant (P = 0.2), it suggests a possible interactive effect of cigarette smoke and the b fibrinogen gene G-455-A polymorphism in the risk of developing Legg-Perthes disease.	Case:55 cases of Legg-Perthes disease;Control:56 age, race and gender-matched healthy controls	smoking (tobacco)									
123316	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Renner, W.  et al. 2002	12406024	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			European journal of clinical investigation. 2002 Oct;32(10):755-8	G-455A polymorphism of the fibrinogen beta gene and deep vein thrombosis.		134830	10678	2	2002	 Our data suggest that the fibrinogen-elevating FGB G-455A gene polymorphism is not linked to an increased risk for deep venous thrombosis.	Case:307 patients with documented deep venous thrombosis;Control:316 control subjects										
123317	Y	fibrinogen	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Li, F. Q.  et al. 2001	12578626	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2001 Jun;9(2):165-168	[Effect of beta-Fibrinogen-455 Gene Polymorphism on Plasma Fibrinogen Levels in Patients with Ischemic Stroke]		134830	10680	2	2001	Our data demonstrates an association of the beta-Fg promoter A-455 allele with higher fibrinogen levels in the general population, and suggests that the A-allele may be a susceptible predictor of ischemic stroke, particularly in aging and smoking.	Case:104 individuals with verified ischemic stroke;Control:156 healthy individuals	smoking (tobacco)									
123318	Y	stroke, lacunar	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Brain Infarction|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Martiskainen, M.  et al. 2003	12637691	( -455G/A)		promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Stroke; a journal of cerebral circulation. 2003 Apr;34(4):886-91	Fibrinogen gene promoter -455 A allele as a risk factor for lacunar stroke.		134830	10682	2	2003	 Stroke patients carrying the A allele of the Bbeta-fibrinogen -455G/A polymorphism frequently presented with multiple lacunar infarcts. This association was stronger among hypertensives and smokers. These associations suggest that the A allele may predispose to atherothrombotic events in cerebrovascular circulation.	Cohort 486 consecutive patients 55 to 85 years of age who, 3 months after ischemic stroke, completed a detailed stroke assessment 	smoking (tobacco)									
123313	Y	stroke; fibrinogen	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Liu, Y.  et al. 2000	11798781	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Chinese		CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue za zhi. 2000 May;80(5):336-8	[beta-fibrinogen gene -455A/G polymorphism and plasma fibrinogen level in Chinese stroke patients]		134830	10674	2	2000	 Plasma fibrinogen expression is affected by the beta-fibrinogen gene - 455A/G polymorphism. H2 allele is a risk factor for ischaemic stroke in Chinese men.	Control:74 control patients (60.6 +/- 10.8 years) without any thromboembolic events;Case:91 Chinese patients (63.5 +/- 10.1 years) with ischaemic stroke;Control:98 healthy blood donors (37.5 +/- 13.3 years)										
123314	Y	fibrinogen	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Yang, Z.  et al. 2000	11877019	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua xue ye xue za zhi. 2000 Sep;21(9):463-5	[The study of beta-fibrinogen gene - 455 G/A, - 148 C/T, 448 G/A polymorphisms and their association with plasma fibrinogen levels]		134830	10675	2	2000	 The three polymorphisms loci are strong linkage disequilibrium. It suggests that beta-Fg gene - 455 G/A, - 148 C/T, 448 G/A polymorphisms are associated with plasma fibrinogen levels.	Cohort 156 Han individuals Guangdong, China 										
123315	Y	stroke, ischemic; fibrinogen	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Liu, Y.  et al. 2002	11940334	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Chinese	China	CDC GDPinfo	2244	Hs.300774			Chinese medical journal. 2002 Feb;115(2):214-6	beta-fibrinogen gene -455A/G polymorphism and plasma fibrinogen level in Chinese stroke patients		134830	10676	2	2002	 Plasma fibrinogen expression is affected by the beta-fibrinogen gene -455A/G polymorphism, and the H2 allele may be a risk factor for ischemic stroke in Chinese males.	Control:74 Chinese elderly control subjects (60.6 10.8 years) without any thromboembolic events;Case:91 patients (63.5 10.1 years) with ischemic stroke;Control:98 healthy blood donators as young control (37.5 13.3:years)										
123310	N	intimal medial thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases	4	4q28	FGB	155703595	155711688		Fox CS 2004	14963283	HindIII beta-148,			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Massachusetts	KGB	2244	Hs.300774			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of association between polymorphisms in the hemostatic factor pathway genes and carotid intimal medial thickness: the Framingham Heart Study.		134830	2677	1	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort										
123311	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis	4	4q28	FGB	155703595	155711688		Folsom, A. R.  et al. 2001	11293402	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		United States	CDC GDPinfo	2244	Hs.300774			Annals of epidemiology. 2001 Apr;11(3):166-70	Beta-fibrinogen gene -455G/A polymorphism and coronary heart disease incidence: theAtherosclerosis Risk in Communities (ARIC) Study.		134830	10672	2	2001	 Although a small effect cannot be excluded, -455G/A does not appear to be an important genetic determinant of CHD.	Case:398 incident coronary heart disease cases over a median of 5.3 years of follow up;Control:498 random sample from Atherosclerosis Risk in Communities Study cohort										
123312		fibrinogen	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Liu, G.  et al. 1999	11601216	( -455G/A)			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Chinese		CDC GDPinfo	2244	Hs.300774			Zhonghua xue ye xue za zhi. 1999 May;20(5):255-7	[Identification of beta-FBG-455G/A polymorphisms in 210 samples of Guangdong population and the relationship with plasma fibrinogen level]		134830	10673	2	1999	 The frequency of beta-FBG G/A-455 A-allele in Guangdong Chinese population is higher than that in European. The plasma fibrinogen level in G/A genotype is higher than that in G/G genotype. It suggested that the beta-FBG gene expression might be associated with the genotype.	Cohort 210 subjects from the Guandong Chinese population 										
123307	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	4	4q28	FGB	155703595	155711688		Volzke H 2004	12899665				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		134830	2674	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
123308	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	4	4q28	FGB	155703595	155711688		Hefler L 2004	14706682	-455 G to A			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		134830	2675	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
123309		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	4	4q28	FGB	155703595	155711688		Carter AM 1996	8908392				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Caucasian		Y Wang	2244	Hs.300774	Complications		Diabetes care. 1996 Nov;19(11):1265-8	Beta-fibrinogen gene-455 G/A polymorphism and fibrinogen levels. Risk factors for coronary artery disease in subjects with NIDDM.		134830	2676	1	1996	 These data suggest a relationship between the -455 G/A beta-fibrinogen gene polymorphism and the development of CAD in subjects with NIDDM. This relationship was not associated with variations in fibrinogen levels, suggesting that this polymorphism may be in linkage with a polymorphism within the coding region of the beta-fibrinogen gene, which results in an alteration in the stability of the fibrin clot.											
123304	Y	chronic periodontitis.	IMMUNE	IMM	Periodontitis|Chronic Disease	4	4q28	FGB	155703595	155711688		Sahingur SE et al. 2003	12710752	G-455-A			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Journal of periodontology. 2003 Mar;74(3):329-37	Association of increased levels of fibrinogen and the -455G/A fibrinogen gene polymorphism with chronic periodontitis.		134830	2671	1	2003	 The results indicate that a higher percentage of chronic periodontitis patients exhibit genotypes associated with higher plasma fibrinogen levels than healthy individuals. Furthermore, periodontitis patients have significantly higher fibrinogen levels compared to healthy individuals. The presence of H1H2 or H2H2 genotypes as well as elevated fibrinogen levels, in conjunction with other factors, may put individuals at higher risk of having periodontal disease, or may result from periodontal infection-genetic interactions.	Control:75 periodontally healthy subjects, matched to age, gender, and race;Case:79 chronic periodontitis patients										
123305	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	4	4q28	FGB	155703595	155711688		Behague I et al. 1996	8565160				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Circulation. 1996 Feb;93(3):440-9	Beta fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. The ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde.		134830	2672	1	1996	 Genetic variants of the beta fibrinogen gene are associated with an increased plasma level of fibrinogen, especially in smokers. The association with CAD appears to be the consequence of an increased risk of MI in subjects with severe CAD who carry the predisposing beta fibrinogen genotypes.											
123306	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	4	4q28	FGB	155703595	155711688		Volzke H 2004	12899665	-455 G/A			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		134830	2673	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
123301		plasma fibrinogen levels	METABOLIC	MET		4	4q28	FGB	155703595	155711688		de Maat MP et al. 1995	7600117				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Arteriosclerosis, thrombosis, and vascular biology. 1995 Jul;15(7):856-60	Gender-related association between beta-fibrinogen genotype and plasma fibrinogen levels and linkage disequilibrium at the fibrinogen locus in Greenland Inuit.		134830	2668	1	1995												
123302	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688	n	Doggen CJ et al. 2000	11054085				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			British journal of haematology. 2000 Sep;110(4):935-8	Fibrinogen polymorphisms are not associated with the risk of myocardial infarction.		134830	2669	1	2000	We conclude that  a genetic propensity to high fibrinogen levels does not affect the risk of myocardial infarction. This is evidence against a causal role for fibrinogen levels in the aetiology of myocardial infarction.	Case:560 patients with a myocardial infarction In the Study of Myocardial Infarctions Leiden:Leiden;Control:646 control subjects										
123303	Y	smoking	OTHER	OTH		4	4q28	FGB	155703595	155711688		Thomas AE et al. 1996	9001796				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774	smoking		Clinical genetics. 1996 Oct;50(4):184-90	Association of genetic variation at the beta-fibrinogen gene locus and plasma fibrinogen levels; interaction between allele frequency of the G/A-455 polymorphism age and smoking.		134830	2670	1	1996												
123297	Y	Lupus	IMMUNE	IMM	Lupus Nephritis|Thrombosis	4	4q28	FGB	155703595	155711688		Gong R et al. 2002	11836675				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):5-Jan	Genetic variations in plasminogen activator inhibitor-1 gene and beta fibrinogen gene associated with glomerular microthrombosis in lupus nephritis and the gene dosage effect		134830	2664	1	2002	 The above findings indicated that genetic variations in PAI-1 and beta fibrinogen loci might represent risk factors for glomerular microthrombosis in LN. They may have synergetic impact and present gene dosage effect on the susceptibility to this pathological subphenotype.	Case:101 patients with biopsy proven LN with (n=46) and without glomerular microthrombus (n=55);Control:128 unrelated healthy adults		plasminogen activator inhibitor-1 (PAI-1)	675 4G/5G	beta fibrinogen	455 G/A			Y		glomerular microthrombosis in lupus nephritis
123299		myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Acute-Phase Reaction	4	4q28	FGB	155703595	155711688		Gardemann A et al. 1997	9241743				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Thrombosis and haemostasis. 1997 Jun;77(6):1120-6	Positive association of the beta fibrinogen H1/H2 gene variation to basal fibrinogen levels and to the increase in fibrinogen concentration during acute phase reaction but not to coronary artery disease and myocardial infarction.		134830	2666	1	1997	 Obviously, the H2 allele of the fibrinogen H1/H2 genotype does not only influence basal fibrinogen concentrations, but particularly also the extent of fibrinogen level increase during acute phase reaction. Whereas the fibrinogen plasma level is positively associated with coronary artery disease and myocardial infarction, the H2 allele-although exhibiting an association with elevated fibrinogen levels-was not positively associated with CAD and MI.											
123300	Y	Atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	4	4q28	FGB	155703595	155711688		Humphries SE et al. 1995	7749821	G-455-A			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Europe	KGB	2244	Hs.300774			Arteriosclerosis, thrombosis, and vascular biology. 1995 Jan;15(1):96-104	European Atherosclerosis Research Study: genotype at the fibrinogen locus (G-455-A beta-gene) is associated with differences in plasma fibrinogen levels in young men and women from different regions in Europe. Evidence for gender-genotype-environment inte		134830	2667	1	1995												
123293	Y	post-trauma fibrinogen increase	OTHER	OTH	Craniocerebral Trauma|Thoracic Injuries	4	4q28	FGB	155703595	155711688		Ferrer-Antunes C et al. 1998	9851811				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Thrombosis research. 1998 Dec;92(5):207-12	Association between polymorphisms in the fibrinogen alpha- and beta-genes on the post-trauma fibrinogen increase.		134830	2660	1	1998												
123294	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688		Zito F et al. 1997	9437197				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		Italy	KGB	2244	Hs.300774			Arteriosclerosis, thrombosis, and vascular biology. 1997 Dec;17(12):3489-94	Bcl I polymorphism in the fibrinogen beta-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels. A case-control study in a sample of GISSI-2 patients.		134830	2661	1	1997												
123295	Y	plasma fibrinogen levels	METABOLIC	MET		4	4q28	FGB	155703595	155711688		Thomas AE et al. 1991	1871708			promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Thrombosis and haemostasis. 1991 May;65(5):487-90	Variation in the promoter region of the beta fibrinogen gene is associated with plasma fibrinogen levels in smokers and non-smokers.		134830	2662	1	1991												
123296	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Arteriosclerosis|Hypertension	4	4q28	FGB	155703595	155711688		Nishiuma S et al. 1998	9690809			promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Japanese	Japan	KGB	2244	Hs.300774			Blood coagulation & fibrinolysis. 1998 Jun;9(4):373-9	Genetic variation in the promoter region of the beta-fibrinogen gene is associated with ischemic stroke in a Japanese population.		134830	2663	1	1998												
123290		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGA	155723729	155731347		Rubattu, S.  et al. 2005	15968394				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3		Italy	CDC GDPinfo	2243	Hs.351593			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		134820	26870	2	2005												
123291		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Adams, G. T.  et al. 2003	12871600				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		134820	27912	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
123292	Y	post-trauma fibrinogen increase	OTHER	OTH	Craniocerebral Trauma|Thoracic Injuries	4	4q28	FGB	155703595	155711688		Ferrer-Antunes C et al. 1998	9851811				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Thrombosis research. 1998 Dec;92(5):207-12	Association between polymorphisms in the fibrinogen alpha- and beta-genes on the post-trauma fibrinogen increase.		134830	2659	1	1998												
123287		fibrinogen	METABOLIC	MET	Venous Thrombosis	4	4q28	FGA	155723729	155731347		Uitte de Willige, S.  et al. 2005	16144795				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			Blood. 2005 Dec;106(13):4176-83	Genetic variation in the fibrinogen gamma gene increases the risk of deep venous thrombosis by reducing plasma fibrinogen {gamma}' levels.		134820	16704	2	2005												
123288		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347			16324093				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3		Italy	CDC GDPinfo	2243	Hs.351593			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		134820	24444	2	2005												
123289		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	4	4q28	FGA	155723729	155731347		Ozbek, N.  et al. 2005	15831156				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		134820	26869	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
123284	Y	angina	CARDIOVASCULAR	CARD	Angina, Unstable	4	4q28	FGA	155723729	155731347		Yongbin, N.  et al. 2004	15346842				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	Chinese		CDC GDPinfo	2243	Hs.351593			Clinical cardiology. 2004 Aug;27(8):455-8	Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients		134820	12020	2	2004	 Chinese patients with UA had increased frequencies of GP Ib alpha C/B genotype and Bbeta fibrinogen 448A allele. These data suggest that some genetic factors may influence the development of UA.	Case:69 Chinese patients (43 men, 26 women) with unstable:angina;Control:69 control subjects without coronary artery disease										
123285		myocardial infarct	CARDIOVASCULAR	CARD		4	4q28	FGA	155723729	155731347		Mannila, M. N.  et al. 2005	15735812				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			Thrombosis and haemostasis. 2005 Mar;93(3):570-7	Contribution of haplotypes across the fibrinogen gene cluster to variation in risk of myocardial infarction.		134820	16702	2	2005	In conclusion, fibrinogen haplotypes, but not SNPs in isolation, are associated with variation in risk of MI.	Case:377 postinfarction patients;Control:387 healthy individuals		FGG	FGA*1					Y		myocardial infarction
123286		myocardial infarct; thromboembolism, venous; thrombosis, deep vein	CARDIOVASCULAR	CARD		4	4q28	FGA	155723729	155731347		Ivaskevicius, V.  et al. 2005	15795540	Ala82Gly			Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	Caucasian		CDC GDPinfo	2243	Hs.351593			Blood coagulation & fibrinolysis. 2005 Apr;16(3):205-8	gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians.		134820	16703	2	2005	From these data we estimated that homozygous individuals for gammaAla82Gly should occur at a	Cohort 200 blood donors 										
123281	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGA	155723729	155731347		Doggen CJ  et al. 2000	11054085				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			British journal of haematology. 2000 Sep;110(4):935-8	Fibrinogen polymorphisms are not associated with the risk of myocardial infarction.		134820	10671	2	2000	We conclude that  a genetic propensity to high fibrinogen levels does not affect the risk of myocardial infarction. This is evidence against a causal role for fibrinogen levels in the aetiology of myocardial infarction.	Case:560 patients with a myocardial infarction In the Study of Myocardial Infarctions Leiden:Leiden;Control:646 control subjects										
123282		fibrinogen	METABOLIC	MET		4	4q28	FGA	155723729	155731347		Liang, L.  et al. 2005	16086292				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):457-61	[Nine polymorphisms of fibrinogen gene and their association with plasma fibrinogen levels in Hainan Han population]		134820	10701	2	2005	 There was linkage disequilibrium between the fibrinogen gene loci. The beta -455G/A beta 448G/A, alpha Fg Taq I polymorphisms were associated with the difference in plasma fibrinogen in men. A(-455), T(-148) and alpha Taq I T1 alleles were associated with higher fibrinogen levels.											
123283	N	fibrinogen	OTHER	OTH		4	4q28	FGA	155723729	155731347		Menegatti, M.  et al. 2001	11562340				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			Thrombosis research. 2001 Aug;103(4):299-307	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.		134820	10709	2	2001	In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.	Cohort 200 healthy individuals Italy 										
123278	N	fibrinogen	METABOLIC	MET		4	4q28	FGA	155723729	155731347		Kain, K.  et al. 2002	12117709				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDPinfo	2243	Hs.351593			American journal of epidemiology. 2002 Jul;156(2):174-9	Increased fibrinogen levels among South Asians versus Whites in the United Kingdom are not explained by common polymorphisms.		134820	10668	2	2002	These findings suggest that increased fibrinogen levels among South Asians versus Whites are not due to differences in the prevalence of genetic polymorphisms that encode for fibrinogen.	Cohort 100/100 apparently healthy United Kingdom South Asians (n=100) and age- and sex-matched whites (n=100) 										
123279		obesity	METABOLIC	MET	Obesity	4	4q28	FGA	155723729	155731347		He, Z. H.  et al. 2005	15795809				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	Chinese		CDC GDPinfo	2243	Hs.351593			International journal of sports medicine. 2005 May;26(4):253-7	The aerobic fitness (VO2 peak) and alpha-fibrinogen genetic polymorphism in obese and non-obese Chinese boys.		134820	10669	2	2005	We came to the conclusion that prepubertal obese boys exhibited impaired aerobic fitness compared with their normal weight peers. VO (2) peak is closely related to LBW and independent of FM. This relationship remains constant irrespective of the TaqI alpha-fibrinogen genotypes that may be associated with fatness in boys.	Cohort 77 Chinese boys with similar lifestyle, 47 diagnosed as obese 										
123280	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347			16362348				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	Taiwanese		CDC GDPinfo	2243	Hs.351593			Human genetics. 2005	Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population		134820	10670	2	2005												
123275	Y	plasma fibrinogen levels in smokers and non-smokers	METABOLIC	MET		4	4q28	FGA	155723729	155731347		Thomas AE et al. 1995	7473646				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			KGB	2243	Hs.351593			Journal of medical genetics. 1995 Aug;32(8):585-9	The association of combined alpha and beta fibrinogen genotype on plasma fibrinogen levels in smokers and non-smokers.		134820	2656	1	1995												
123276		abnormal fibrin polymerization and thrombophilia	OTHER	OTH	Thrombosis|Blood Coagulation Disorders	4	4q28	FGA	155723729	155731347		Koopman J et al. 1993	8473507				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			KGB	2243	Hs.351593			The Journal of clinical investigation. 1993 Apr;91(4):1637-43	Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.		134820	2657	1	1993												
123277		Aalpha and gamma fibrinogen plasma levels	OTHER	OTH		4	4q28	FGA	155723729	155731347		Menegatti M et al. 2001	11562340				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			KGB	2243	Hs.351593			Thrombosis research. 2001 Aug;103(4):299-307	Identification of four novel polymorphisms in the Aalpha and gamma fibrinogen genes and analysis of association with plasma levels of the protein.		134820	2658	1	2001	In the multivariate linear regression analysis, no statistically significant association with plasma fibrinogen levels was found.	Cohort 200 healthy individuals Italy										
123271		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	11	11q12	FEN1	61316725	61321286		Otto, C. J.  et al. 2001	11260214				Flap structure-specific endonuclease 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004111.4			CDC GDPinfo	2237	Hs.409065			Clinical genetics. 2001 Feb;59(2):122-7	The "flap" endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease.		600393	16682	2	2001	The identification of a candidate gene(s) in HD or other CAG-expansion disorders implicated in TNR instability will elucidate the mechanism of expansion for this growing family of neurological disorders.	Case:15 Huntington's disease parent/child pairs;Control:50:controls										
123272	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	11	11q24.2	FEZ1	124820857	124871333		Yamada, K.  et al. 2004	15522253				Fasciculation and elongation protein zeta 1 (zygin I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005103.3	Japanese		CDC GDPinfo	9638	Hs.224008			Biological psychiatry. 2004 Nov;56(9):683-90	Association analysis of FEZ1 variants with schizophrenia in Japanese cohorts.		604825	16683	2	2004	 A modest association between FEZ1 and schizophrenia suggests that this gene and the DISC1-mediated molecular pathway might play roles in the development of schizophrenia, with FEZ1 affecting only a small subset of Japanese schizophrenia patients.	Control age- and gender-matched control subjects;Case:119/360 Japanese bipolar disorder (n=119) and schizophrenic:(n=360) patients										
123273	Y	renal amyloidosis	OTHER	OTH	Kidney Diseases|Amyloidosis	4	4q28	FGA	155723729	155731347		Benson MD et al. 1993	8097946				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			KGB	2243	Hs.351593			Nature genetics. 1993 Mar;3(3):252-5	Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.		134820	2654	1	1993												
123268		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	1	1q23	FCGR2A	159741843	159760427		Kornman, K. S.  et al. 2001	11887471				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		146790	25999	2	2001	Review Article											
123269		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies|Muscular Dystrophy, Duchenne	9	9q31-q33	FCMD	107360231	107443220		Kato, R.  et al. 2004	15103718				Fukuyama type congenital muscular dystrophy (fukutin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006731.1	Japanese		CDC GDPinfo	2218	Hs.55777			American journal of medical genetics Part A. 2004 May;127(1):54-7	A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.		607440	16681	2	2004	The diagnostic method we developed will provide a rapid and reliable diagnosis of FCMD, which can bring important information in genetic counseling, such as the accurate mode of inheritance, recurrence risk and a life expectancy.	Cohort 18 Fukuyama-type congenital muscular dystrophy patients Cohort 335 patients with Duchenne muscular dystrophy 										
123270		erythropoietic protoporphyria	UNKNOWN	UNK	Protoporphyria, Erythropoietic|Genetic Predisposition to Disease	18	18q21.3	FECH	53366534	53404988			16385445				Ferrochelatase (protoporphyria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012515.1			CDC GDPinfo	2235	Hs.465221			American journal of human genetics. 2006 Jan;78(1):14-Feb	Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria		177000	10667	2	2006												
123265		lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Van Der Pol, W. L.  et al. 2003	12830330				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Immunogenetics. 2003 Jul;55(4):240-6	Evidence for non-random distribution of Fcgamma receptor genotype combinations.		146790	21411	2	2003	This study provides important information for the interpretation of studies reporting associations of FcgammaR alleles with disease, and underscores the apparent differences in FcgammaR heterogeneity between ethnic groups.	Cohort 514/149 Dutch Caucasian (n=514) and Japanese blood donors (n=149) 										
123266		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	1	1q23	FCGR2A	159741843	159760427		Tsao, B. P.   2002	12126589				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		146790	24412	2	2002	Review article											
123267		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Choi, E. H.  et al. 2005	16110781				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		146790	24413	2	2005												
123262	Y	cystic fibrosis; P. aeruginosa infection	INFECTION	INF	Pseudomonas Infections|Cystic Fibrosis|Disease Susceptibility	1	1q23	FCGR2A	159741843	159760427		Rose, V. D.  et al. 2004	15367919				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			European journal of human genetics. 2005 Jan;13(1):96-101	Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis		146790	21408	2	2004	The observation that CF patients carrying the R allele of FcgammaRIIA are at higher risk of acquiring chronic P. aeruginosa infection suggests that the FcgammaRII loci genetic variation is contributing to this infection susceptibility.	Case:167 Italian unrelated patients with cystic fibrosis;Control:50 control subjects										
123263		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	1	1q23	FCGR2A	159741843	159760427		Lehrnbecher, T.  et al. 2005	16107886				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		146790	21409	2	2005												
123264		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Tsuchiya, N.  et al. 2003	12858454				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	CDC GDPinfo	2212	Hs.352642			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		146790	21410	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
123259		otitis media	OTHER	OTH	Otitis Media with Effusion|Recurrence	1	1q23	FCGR2A	159741843	159760427		Straetemans, M.  et al. 2005	15742161				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of clinical immunology. 2005 Jan;25(1):78-86	Immunological status in the aetiology of recurrent otitis media with effusion: serum immunoglobulinlevels, functional mannose-binding lectin and Fc receptor polymorphisms for IgG.		146790	18161	2	2005												
123260		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Criswell, L. A.  et al. 2004	15457442				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		146790	19934	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
123261	N	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Loke, H.  et al. 2002	12363051				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Vietnamese	Vietnam	CDC GDPinfo	2212	Hs.352642			The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variationin the vitamin d receptor and Fc gamma receptor IIa genes.		146790	20141	2	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
123256	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Matsumoto, I.  et al. 2005	16277670				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis research & therapy. 2005 ;7(6):R1183-8	A functional variant of Fcgamma receptor IIIA is associated with rheumatoid arthritis in individuals who are positive for anti-glucose-6-phosphate isomerase antibodies.		146790	16672	2	2005												
123257		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Chung, H. Y.  et al. 2003	14761117				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Taiwan	CDC GDPinfo	2212	Hs.352642			Journal of clinical periodontology. 2003 Nov;30(11):954-60	Gm (23) allotypes and Fcgamma receptor genotypes as risk factors for various forms of periodontitis.		146790	16676	2	2003	 The Gm (23-) allotype might be a potential risk factor for CP. Although the R131 allele of FcgammaR IIa occurred more frequently in G-AP than in CP, its clinical significance could not be justified in this study.	Case:50/30 patients with chronic periodontitis (n=50) and patients with generalized aggressive periodontitis:(n=30);Control:74 healthy controls										
123258		allograft rejection, heart	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Vamvakopoulos, J. E.  et al. 2002	12095061				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		146790	17771	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
123253		immunotherapy response	IMMUNE	IMM	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Lymphoma, Follicular	1	1q23	FCGR2A	159741843	159760427		Weng, W. K.  et al. 2004	15483014				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of clinical oncology. 2004 Dec;22(23):4717-24	Clinical Outcome of Lymphoma Patients After Idiotype Vaccination Is Correlated With Humoral Immune Response and Immunoglobulin G Fc Receptor Genotype		146790	16667	2	2004	 This study is the first to identify the predictive value of FcgammaR polymorphism on clinical outcome in patients who received active immunotherapy with tumor antigen vaccines. Our results imply that the antibodies induced against a tumor antigen are beneficial and that FcgammaR-bearing cells mediate an antitumor effect by killing antibody-coated tumor cells.	Cohort 136 patients with follicular lymphoma who had received Id vaccination 	idiotype vaccination									
123254		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Jonsen, A.  et al. 2004	15535834				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		146790	16669	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
123255		agranulocytosis, drug induced	HEMATOLOGICAL	HEM	Agranulocytosis	1	1q23	FCGR2A	159741843	159760427		Mosyagin, I.  et al. 2005	16160618				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of clinical psychopharmacology. 2005 Oct;25(5):435-40	Drug-induced agranulocytosis: impact of differentfcgamma receptor polymorphisms?		146790	16671	2	2005												
123250		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Fu, Y.  et al. 2002	12027254				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	African American		CDC GDPinfo	2212	Hs.352642			Journal of periodontology. 2002 May;73(5):517-23	Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans.		146790	16659	2	2002	 These data suggest that the Fc gammaRIIIb NA2 allele and/or NA2/NA2 genotype may represent risk markers for susceptibility to LAgP in African-Americans.	Case:48 localized aggressive periodontitis African-American:subjects;Control:67 periodontally-healthy African-American subjects										
123251	Y	myasthenia gravis	IMMUNE	IMM	Thymoma|Myasthenia Gravis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		van der Pol, W. L.  et al. 2003	14597109				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Dutch	Netherlands	CDC GDPinfo	2212	Hs.352642			Journal of neuroimmunology. 2003 Nov;144(2-Jan):143-7	Association of the Fc gamma receptor IIA-R/R131 genotype with myasthenia gravis in Dutch patients.		146790	16663	2	2003	These data suggest that the FcgammaRIIa-R/R131 genotype is a marker for susceptibility to MG.	Case:107 myasthenia gravis patients;Control:239 healthy controls										
123252		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	1	1q23	FCGR2A	159741843	159760427		Gruel, Y.  et al. 2004	15191947				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Blood. 2004 Nov;104(9):2791-3	The homozygous FcgammaRIIIa-158V genotype is a risk factor for heparin-induced thrombocytopenia in patients with antibodies to heparin-platelet factor 4 complexes.		146790	16666	2	2004	Since anti-H/PF4 Abs are mainly IgG1 and IgG3, clearance of sensitized platelets may be increased in patients homozygous for the FcgammaRIIIa-158V allotype, thus contributing to the development of thrombocytopenia.	Case:102 patients with definite heparin-induced:thrombocytopenia;Control:86/84 patients treated by heparin (86 subjects without detectable Abs to H/PF4, Ab- group; 84 patients with Abs to H/PF4 without HIT, Ab+ group)										
123247		pneumonia	INFECTION	INF	Pneumococcal Infections	1	1q23	FCGR2A	159741843	159760427		Moens, L.  et al. 2005	16150646				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Clinical immunology (Orlando, Fla). 2006 Jan;118(1):20-3	Fcgamma-receptor IIA genotype and invasive pneumococcal infection.		146790	16652	2	2005												
123248		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427			16356189				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis research & therapy. 2005 Nov;8(1):R5	Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a majorsusceptibility gene at this locus, with an additional contribution from FCGR3B		146790	16654	2	2005												
123249		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket|Chronic Disease|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR2A	159741843	159760427		Kobayashi, T.  et al. 2001	11699473				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	CDC GDPinfo	2212	Hs.352642			Journal of periodontology. 2001 Oct;72(10):1324-31	The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients		146790	16658	2	2001	 Our results document the Fc gamma RIIIa-158V allele and possibly Fc gamma RIIIb-NA2 to be associated with severity of CP in Japanese patients.	Case:39 Japanese non-smoking patients with moderate chronic:periodontitis;Case:50 Japanese non-smoking patients with severe chronic:periodontitis;Control:64 ace-matched, non-smoking healthy controls										
123244	Y	nephropathy in other diseases	RENAL	REN	Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Zuniga, R.  et al. 2003	12571856				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2003 Feb;48(2):460-70	Identification of IgG subclasses and C-reactive protein in lupus nephritis: the relationshipbetween the composition of immune deposits and FCgamma receptor type IIA alleles.		146790	16649	2	2003	 FcgammaRIIA genes are associated with proliferative renal disease and may contribute to disease pathogenesis. FcgammaRIIa-R131, the variant with low affinity for IgG2, has high affinity for CRP. Thus, FcgammaRIIa-R131 may contribute to impaired removal of circulating immune complexes, as well as efficiently triggering phagocyte activation and the release of inflammatory mediators within glomeruli.	Cohort 80 patients with lupus nephritis 										
123245	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Inflammation	1	1q23	FCGR2A	159741843	159760427		van der Meer, I. M.  et al. 2004	15583733				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Thrombosis and haemostasis. 2004 Dec;92(6):1273-6	Genetic variation in Fcgamma receptor IIa protects against advanced peripheral atherosclerosis. The Rotterdam Study.		146790	16650	2	2004	This is the first study showing that the H131 allele of FcgammaRIIa protects against advanced peripheral atherosclerosis.	Control:411:controls;Case:430 subjects with advanced peripheral atherosclerosis										
123246		graft versus host disease	IMMUNE	IMM	Leukemia, Myeloid|Graft vs Host Disease|Acute Disease|Recurrence	1	1q23	FCGR2A	159741843	159760427		van der Straaten, H. M.  et al. 2005	15744239				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Biology of blood and marrow transplantation. 2005 Mar;11(3):206-12	The FcgammaRIIa-polymorphic site as a potential target for acute graft-versus-host disease in allogeneic stem cell transplantation.		146790	16651	2	2005	We conclude that  the polymorphism of the FcgammaRIIa receptor may be a candidate target for acute GVHD.											
123241	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Ni, P.  et al. 2000	11110978				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Chinese	China	CDC GDPinfo	2212	Hs.352642			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):409-12	[The association and linkage analysis between the FcgammaR II a-131 and system lupus erythematosus]		146790	16646	2	2000	 This study suggests that FcgammaR II a-131 is a major factor predisposing to the development of SLE in southern Chinese Han population.	Case southern Chinese Han individuals with systemic lupus erythematosus:China;Control:controls										
123242	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Pricop, L.  et al. 2002	12215902			promoter	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Genes and immunity. 2002 Oct;3 Suppl 1:S47-50	Characterization of the FcgammaRIIA promoter and 5'UTR sequences in patients with systemic lupus erythematosus.		146790	16647	2	2002	The polymorphisms are present in both disease-free and SLE donors and do not associate with quantitative changes in FcgammaRIIa phagocytic function.	Control:20 normal donors;Case:53 systemic lupus erythematosus patients										
123243		HIV	INFECTION	INF	AIDS-Related Opportunistic Infections|Respiratory Tract Infections|HIV Infections|Recurrence	1	1q23	FCGR2A	159741843	159760427		Payeras, A.  et al. 2002	12390315				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Clinical and experimental immunology. 2002 Nov;130(2):271-8	Risk factors in HIV-1-infected patients developing repetitive bacterial infections: toxicological,clinical, specific antibody class responses, opsonophagocytosis and Fcgamma RIIa polymorphism characteristics		146790	16648	2	2002	These data indicate that vaccination strategies against encapsulated bacteria can be unsuccessful in the HIV-1-infected patients presenting repetitive bacterial respiratory tract infections if behavioural aspects or measures to improve adherence to HAART therapies are not considered.	Case:33 HIV-1 seropositive patients with previous repetitive bacterial respiratory tract infection;Control:33/27 HIV-1 seropositive controls (matched by CD4-cell counts, N=33) without these antecedents and healthy:controls (n=27)										
123238	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Cutaneous|Lupus Erythematosus, Systemic|Lupus Nephritis|Lupus Vasculitis, Central Nervous System	1	1q23	FCGR2A	159741843	159760427		Villarreal, J.  et al. 2001	11561111				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Spanish	Spain	CDC GDPinfo	2212	Hs.352642			Rheumatology (Oxford, England). 2001 Sep;40(9):1009-12	Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients.		146790	12198	2	2001	 The MBL gene codon 54 mutant allele appears to be a risk factor for SLE, whilst haplotypes encoding for high levels of MBL are protective against the disease. Differences between controls and patients were not significant when considering the FcgammaRIIa polymorphisms; similar results were observed for renal affectation.	Case:125 SLE patients:Barcelona, Spain;Control:138 geographically matched controls										
123239		SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome	1	1q23	FCGR2A	159741843	159760427		Yuan, F. F.  et al. 2005	16185324				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Tissue antigens. 2005 Oct;66(4):291-6	Influence of FcgammaRIIA and MBL polymorphisms on severe acute respiratory syndrome.		146790	12326	2	2005												
123240	Y	bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	1	1q23	FCGR2A	159741843	159760427		Rocha, V.  et al. 2002	12393699				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		146790	13090	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
123235	Y	rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Berdeli, A.  et al. 2004	15369725				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Turkey	CDC GDPinfo	2212	Hs.352642			Clinical biochemistry. 2004 Oct;37(10):925-9	Involvement of immunoglobulin FcgammaRIIA and FcgammaRIIIB gene polymorphisms in susceptibility to rheumatic fever		146790	10664	2	2004	 The FcgammaRIIA-R/H-131 polymorphism may be an important marker in determining predisposition to RF.	Control:117 healthy controls;Case:66 rheumatic fever cases										
123236		atherothrombosis	CARDIOVASCULAR	CARD		1	1q23	FCGR2A	159741843	159760427		Schallmoser, K.  et al. 2005	15735807				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Thrombosis and haemostasis. 2005 Mar;93(3):544-8	The Fc gammaRIIa polymorphism R/H131, autoantibodies against the platelet receptors GPIb alpha and Fc gammaRIIa and a risk for thromboembolism in lupus anticoagulant patients.		146790	11158	2	2005	There was no correlation between the presence of anti-FcgammaRIIa or anti-GPIbalpha autoantibodies and the FcgammaRIIa -R/H131 polymorphism, nor the incidence of TE, nor HLA class II alleles.	Control:27 patients with lupus anticoagulant without thromboembolic disease;Case:46 patients with lupus anticoagulant and thromboembolic disease										
123237		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Dijstelbloem, H. M.  et al. 2002	11953994			promoter	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2002 Apr;46(4):1125-6	The R-H polymorphism of FCgamma receptor IIa as a risk factor for systemic lupus erythematosus is independent of single-nucleotide polymorphisms in the interleukin-10 gene promoter		146790	11621	2	2002	These findings support the notion that other regulatory elements in the IL-10 gene influence IL-10 production and possibly have relevance in SLE. Whether there are syngergistic effects between such elements and Fc gamma R polymorphisms remains to be determined.	Control:163:controls;Case:180 Caucasian systemic lupus erythematosus patients										
123232		malaria	INFECTION	INF	Sickle Cell Trait	1	1q23	FCGR2A	159741843	159760427		Kuwano, S. T.  et al. 2000	11099670				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Indian	Brazil	CDC GDPinfo	2212	Hs.352642			Transfusion. 2000 Nov;40(11):1388-92	Allelic polymorphisms of human fcgamma receptor IIa and Fcgamma receptor IIIb among distinct groups in Brazil.		146790	10660	2	2000	 Overall, the data indicate that the distribution of the FcgammaRIIIB alleles is significantly different in Amazon Indians from the distribution in Brazilian blood donors or African Brazilian patients with SCD, but that it is similar to the distributions reported in Asian populations. Moreover, the distribution of the FcgammaRIIA and FcgammaRIIIB alleles among Brazilian blood donors and SCD patients is comparable to the distributions reported in whites from the United States and Europe.	Cohort 263 unrelated Brazilian subjects, including Amazon Indians (n = 92), blood donors (n = 85), and patients with sickle cell disease (SCD) (n = 86) 										
123233	Y	malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Omi, K.  et al. 2002	12421634				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Thailand	CDC GDPinfo	2212	Hs.352642			Parasitology international. 2002 Dec;51(4):361-6	Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria.		146790	10662	2	2002	This study reveals that, with the FcgammaRIIIB-NA2 allele, the FcgammaRIIA-131H/H genotype is associated with susceptibility to cerebral malaria (OR 1.85, 95% CI 1.14-3.01; P=0.012), although these polymorphisms are not individually involved in the disease severity. Our results suggest that FcgammaRIIA-131H/R and FcgammaRIIIB-NA1/NA2 polymorphisms have an interactive effect on host defense against malaria infection.	Case:107 cerebral malaria patients;Control:157/202 non-cerebral sever (n=157) and mild (n=202) mala										
123234	Y	lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Lee, H. S.  et al. 2003	12867584				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Korean		CDC GDPinfo	2212	Hs.352642			Rheumatology (Oxford, England). 2003 Dec;42(12):1501-7	Independent association of HLA-DR and FCgamma receptor polymorphisms in Korean patients with systemic lupus erythematosus.		146790	10663	2	2003	 Our results suggest that FcgammaRIIa-R/R131 homozygote and HLA-DRB1*15 allele are independent risk factors in Korean SLE patients without additive or synergistic effects.	Control:144 Korean disease-free controls;Case:299 SLE patients meeting 1982 ACR criteria										
123229		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	1	1q23	FCGR2A	159741843	159760427		Taniuchi, S.  et al. 2005	16133986				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of clinical immunology. 2005 Jul;25(4):309-13	Polymorphism of Fcgamma RIIa may affect the efficacy of gamma-globulin therapy in Kawasaki disease.		146790	10655	2	2005												
123230		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	1	1q23	FCGR2A	159741843	159760427		Tanaka, Y.  et al. 2005	16221721	r IIIa-176V/V			Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Nephrology, dialysis, transplantation. 2005 Nov;20(11):2439-45	FcgammaRIIa-131R allele and FcgammaRIIIa-176V/V genotype are risk factors for progression of IgA nephropathy.		146790	10658	2	2005	 The present study shows that polymorphisms of FcgammaRIIa and FcgammaRIIIa influence the severity of IgAN in Japanese patients but not the incidence, suggesting that IgG-IC may play important roles in the progression and prognosis of this disease via FcgammaRs.											
123231		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Tsuchiya, N.  et al. 2005	16227149				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Thailand|China|Japan	CDC GDPinfo	2212	Hs.352642			Autoimmunity. 2005 Aug;38(5):347-52	Role of Fc gamma receptor IIb polymorphism in the genetic background of systemic lupus erythematosus:insights from Asia.		146790	10659	2	2005												
123226	Y	Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		van Sorge, N. M.  et al. 2005	15833371				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of neuroimmunology. 2005 May;162(2-Jan):157-64	Severity of Guillain-Barr???? syndrome is associated with Fc gamma Receptor III polymorphisms.		146790	10650	2	2005	Results suggest that FcgammaRIII genotypes may represent mild disease-modifying factors in GBS.	Case:345 Guillain-Barre syndrome patients from Dutch and British cohorts;Control:714 healthy controls										
123227		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Inflammation	1	1q23	FCGR2A	159741843	159760427		Gavasso, S.  et al. 2005	15910853				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Atherosclerosis. 2005 Jun;180(2):277-82	Fcgamma receptor IIIA polymorphism as a risk-factor for coronary artery disease.		146790	10651	2	2005	 Our data provide evidence for an association between FcgammaRIIIA allelic variants and coronary atherosclerosis. Genetic variation in this IgG-receptor may influence the clearance of antibodies by monocyte-derived macrophages involved in the pathogenesis of CAD.	Cohort 882 patients undergoing diagnostic coronary angiogrpahy 										
123228		lupus erythematosus; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Torkildsen, O.  et al. 2005	15946259				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Immunology. 2005 Jul;115(3):416-21	Ethnic variation of Fc gamma receptor polymorphism in Sami and Norwegian populations.		146790	10652	2	2005												
123223		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Su, K.  et al. 2004	15153543			promoter	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of immunology (Baltimore, Md :  1950). 2004 Jun;172(11):7186-91	A Promoter Haplotype of the Immunoreceptor Tyrosine-Based Inhibitory Motif-Bearing FcgammaRIIb Alters Receptor Expression and Associates with Autoimmunity. I. Regulatory FCGR2B Polymorphisms and Their Association with Systemic Lupus Erythematosus		146790	10646	2	2004	These results suggest that an expression variant of FCGR2B is a risk factor for human lupus and implicate FCGR2B in disease pathogenesis.	Control:controls;Case Caucasians with systemic lupus erythematosus										
123224	N	lupus erythematosus	IMMUNE	IMM	Infection|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Chen, J. Y.  et al. 2004	15194589				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Taiwan	CDC GDPinfo	2212	Hs.352642			Annals of the rheumatic diseases. 2004 Jul;63(7):877-80	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms of systemic lupus erythematosus in Taiwan.		146790	10647	2	2004	 Fcgamma receptor IIa, IIIa, and IIIb polymorphisms may be responsible for the development of distinct manifestations of lupus patients in Taiwan, but there is no significantly skewed distribution in the susceptibility to lupus as a whole.	Case:302 patients with systemic lupus erythematosus:Taiwan;Control:311 healthy blood donors										
123225	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Chronic	1	1q23	FCGR2A	159741843	159760427		Lin, T. S.  et al. 2004	15217834				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Blood. 2005 Jan;105(1):289-91	FCGR3A and FCGR2A polymorphisms may not correlate with response to alemtuzumab in chronic lymphocytic leukemia.		146790	10648	2	2004	These findings indicate that FCRgammaIIIA and FCRgammaIIA polymorphisms may not predict response to alemtuzumab in CLL. Future studies examining larger cohorts of alemtuzumab treated CLL patients will be required to definitively determine the predictive value of specific FcR polymorphisms to treatment response.	Cohort 36 relapsed chronic lymphocytic leukemia patients treated with thrice weekly alemtuzumab for 12 weeks 	alemtuzumab									
123220		periodontitis	IMMUNE	IMM	Periodontitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Loos, B.  et al. 2003	12834496				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian	United States|Europe	CDC GDPinfo	2212	Hs.352642			Journal of clinical periodontology. 2003 Jul;30(7):595-602	Fcgamma receptor polymorphisms in relation to periodontitis.		146790	10640	2	2003	 The current study of relative small sample size suggests that the FcgammaRIIa-H/H131 genotype may be a putative susceptibility and severity factor, and the FcgammaRIIIa-V158 allele a putative susceptibility factor for periodontitis in Northern European Caucasians. These results need further verification and the biological importance of these findings needs further investigation.	Control:61 controls (Northern European Caucasian background, mean ages 44 and 42 years):case:68 periodontitis patients (Northern European Caucasian background, mean ages 44 and 42 years)	smoking (tobacco)									
123221	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	1	1q23	FCGR2A	159741843	159760427		Breij, E. C.  et al. 2003	12864991				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of neuroimmunology. 2003 Jul;140(2-Jan):210-5	No association of Fc gamma RIIa, Fc gamma RIIIa and Fc gamma RIIIb polymorphisms with MS		146790	10642	2	2003	We conclude that  Fcgamma receptor polymorphisms influence neither susceptibility nor clinical disease course of MS.	Case:432 multiple sclerosis patients;Control:515 healthy controls										
123222		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Chu, Z. T.  et al. 2004	14651519				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Chinese		CDC GDPinfo	2212	Hs.352642			Tissue antigens. 2004 Jan;63(1):21-7	Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in theAsian populations.		146790	10644	2	2004	When the present results were combined with our previous data on the Japanese and the Thais using meta-analytic methods, highly significant and independent association was observed for FCGR2B and FCGR3A genotypes. These results strongly suggested that FCGR2B is a common susceptibility factor to SLE in the Asians.	Control:129 healthy controls;Case:167 Chinese patients with systemic lupus erythematosus										
123217		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Sullivan, K. E.  et al. 2003	12626795				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Rheumatology (Oxford, England). 2003 Mar;42(3):446-52	Analysis of polymorphisms affecting immune complex handling in systemic lupus erythematosus.		146790	10636	2	2003	 The results of the study suggest that genes may interact in ways that either synergize or modify the effect of a single genetic effect and imply that association studies must be interpreted within the genetic background of the populations.	Case:166 systemic lupus erythematosus patients;Control:212 control subjects										
123218		multiple sclerosis; lupus erythematosus; Wegener's granulomatosis; Guillain-Barre syndrome; thrombocytopenic purpura, idiopathic	IMMUNE	IMM	Wegener Granulomatosis|Guillain-Barre Syndrome|Autoimmune Diseases|Lupus Erythematosus, Systemic|Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR2A	159741843	159760427		Binstadt, B. A.  et al. 2003	12704346				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			The Journal of allergy and clinical immunology. 2003 Apr;111(4):697-703	IgG Fc receptor polymorphisms in human disease:implications for intravenous immunoglobulin therapy.		146790	10638	2	2003	Review article											
123219	Y	lupus erythematosus; periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Kobayashi, T.  et al. 2003	12710759				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of periodontology. 2003 Mar;74(3):378-84	Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms.		146790	10639	2	2003	 These results show the FcgammaRIIa-R131 allele to be associated with periodontitis risk in SLE patients.	Case:42/18 SLE patients with periodontitis (n=42) and SLE patients without periodontitis (n=18);Control:42/42 healthy subjects with periodontitis (n=42), and healthy subjects without periodontitis (n=42 )										
123214	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2A	159741843	159760427		Kyogoku, C.  et al. 2002	12486608				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	CDC GDPinfo	2212	Hs.352642			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		146790	10632	2	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
123215		thrombocytopenic purpura, idiopathic	HEMATOLOGICAL	HEM	Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR2A	159741843	159760427		Carcao, M. D.  et al. 2003	12492589				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			British journal of haematology. 2003 Jan;120(1):135-41	Fcgamma receptor IIa and IIIa polymorphisms in childhood immune thrombocytopenic purpura.		146790	10633	2	2003	These observations underscore the importance of Fcgamma receptor-mediated cell clearance in childhood ITP.	Control:130 healthy control subjects;Case:98 children diagnosed with childhood immune thrombocytopenic purpura										
123216	Y	malaria	INFECTION	INF	Malaria, Cerebral	1	1q23	FCGR2A	159741843	159760427		Omi, K.  et al. 2002	12501257				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Thai		CDC GDPinfo	2212	Hs.352642			Japanese journal of infectious diseases. 2002 Oct;55(5):167-9	Absence of association between the Fc gamma receptor IIIA-176F/V polymorphism and the severity of malaria in Thai.		146790	10634	2	2002	Thus, we concluded that the association of Fc gamma RIIA-131H/R and Fc gamma RIIIB-NA1/NA2 polymorphisms with cerebral malaria in Thailand is not due to the LD caused by Fc gamma RIIIA-176F/V.	Cohort 462 adult Thai patients with Plasmodium falciparum malaria 										
123211	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Gonzalez-Escribano, M. F.  et al. 2002	12121275				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Spanish	Spain	CDC GDPinfo	2212	Hs.352642			European journal of immunogenetics. 2002 Aug;29(4):301-6	FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB polymorphisms in Spanish patients with systemic lupus erythematosus.		146790	10628	2	2002	With respect to the FcgammaRIIA-131 and FcgammaRIIIA-176 polymorphisms, no differences were found between patients and controls. Patient stratification according to their lupus-related nephritis status gave similar genotypic distribution patterns in both disease categories in all the cases.	Control:194 ethnically matched controls;Case:276 Spanish patients (34 male and 242 female) with systemic lupus erythematosus										
123212	Y	systemic lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Manger, K.  et al. 2002	12176802				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	German	Germany	CDC GDPinfo	2212	Hs.352642			Annals of the rheumatic diseases. 2002 Sep;61(9):786-92	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms		146790	10629	2	2002	 The results of this explorative study support the view that the FcgammaRIIa/IIIa and IIIb polymorphisms constitute factors influencing clinical manifestations and the disease course of SLE but do not represent genetic risk factors for the occurrence of SLE. Higher frequencies of clinical symptoms, haematological and immunological abnormalities as well as an earlier onset of clinical symptoms, haematological and immunological markers of active disease were found in patients with the IIA-R/R131 genotype and the double negative and triple negative genotypes.	Case:140 German patients with systemic lupus erythematosus:Germany;Control:187 German controls										
123208		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Fu, Y.  et al. 1999	11776881				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Zhonghua kou qiang yi xue za zhi. 1999 Nov;34(6):364-6	[Relevance of Fc gamma R polymorphism to the susceptibility of early-onset periodontitis]		146790	10621	2	1999	 These results suggest that the Fc gamma RIIIB NA1/NA1 may be a risk indicator for the susceptibility of the EOP.	Control:27 healthy controls;Case:33 subjects with early-onset periodontitis										
123209	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Taylor, V. I.  et al. 2002	11835346				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			American journal of hematology. 2002 Feb;69(2):109-14	Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell disease.		146790	10624	2	2002	We conclude that  polymorphisms of the low-affinity Fcgamma receptors are not associated with stroke in SS disease.	Case:51 Jamaican adult SS disease stroke cases;Control:51 SS disease-matched controls										
123210	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2A	159741843	159760427		Brun, J. G.  et al. 2002	12064825				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			The Journal of rheumatology. 2002 Jun;29(6):1135-40	Immunoglobulin G fc-receptor (FcgammaR) IIA, IIIA, and IIIB polymorphisms related to disease severity in rheumatoid arthritis.		146790	10627	2	2002	 FcgammaRIIA is implicated as a possible disease modifying gene in RA. Individuals homozygous for the FcgammaRIIA R allele have less efficient binding of IgG2 subclasses than individuals homozygous for the H allele. Less effective processing of circulating immune complexes in RA patients homozygous for the FcgammaRIIA R allele may therefore contribute to a more unfavorable course.	Case:114 patients with rheumatoid arthritis;Case:96:controls										
123205		lupus nephritis	IMMUNE	IMM	Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Seligman, V. A.  et al. 2001	11263776	r IIIA-158F			Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian		CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2001 Mar;44(3):618-25	The Fcgamma receptor IIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians but not non-Caucasians		146790	10617	2	2001	 The FcgammaRIIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians, but not among non-Caucasians. These results suggest that ethnic variation is critical in defining the specific genetic factors underlying the pathogenesis of SLE, and they have important prognostic and therapeutic implications as well.	Case:235 patients with systemic lupus erythematosus (SLE) and proven nephritis:Cohort:352 SLE patients with no evidence of renal disease										
123206		periodontitis	IMMUNE	IMM	Periodontal Diseases	1	1q23	FCGR2A	159741843	159760427		Meisel, P.  et al. 2001	11528518				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Genes and immunity. 2001 Aug;2(5):258-62	Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases.		146790	10618	2	2001	The results are evidence that the FcgammaRIIIa genotype coding for the high affinity receptor imposes an additional risk of bone loss as does the FcgammaRIIIb genotype coding for the low affinity receptor.	Cohort 154 Caucasian subjects 										
123207		meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR2A	159741843	159760427		van Der Pol, W. L.  et al. 2001	11740730				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			The Journal of infectious diseases. 2001 Dec;184(12):1548-55	Relevance of Fcgamma receptor and interleukin-10 polymorphisms for meningococcal disease.		146790	10620	2	2001	These data provide further evidence for the association of polymorphic genes on chromosome 1 and meningococcal disease.	Control:183 first-degree relatives of meningococcal disease:patients;Control:239 healthy controls subjects;Case:50 patients with meningococcal disease										
123202	N	meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR2A	159741843	159760427		Smith, I.  et al. 2003	12729187				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Norway	CDC GDPinfo	2212	Hs.352642			Epidemiology and infection. 2003 Apr;130(2):193-9	FcgammaRIIa and FcgammaRIIIb polymorphisms were not associated with meningococcal disease in Western Norway.		146790	10611	2	2003	In contrast to previous findings, our study indicates that in Norwegian teenagers and adults, the FcgammaRIIa and FcgammaRIIIb allotypes are not decisive for the acquisition or for the severity of meningococcal disease.	Control:100 healthy adult controls;Case:50 meningococcal disease patients aged 14-60 years, with bacteriologically confirmed disease Western Norway										
123203	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Dijstelbloem, H. M.  et al. 2000	11145038				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian		CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2000 Dec;43(12):2793-800	Fcgamma receptor polymorphisms in systemic lupus erythematosus: association with disease and in vivoclearance of immune complexes.		146790	10615	2	2000	 In Caucasian populations, the R/H polymorphism of FcgammaRIIa is a minor determinant in susceptibility to SLE, whereas the V/F polymorphism of FcgammaRIIIa is associated with a set of disease manifestations. Notably, the R/H polymorphism of FcgammaRIIa affects the clearance of immune complexes in vivo, which may influence the course of a disease such as SLE.	Control:154:controls;Case:230 Caucasian patients with SLE										
123204	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Zuniga, R.  et al. 2001	11229467				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Hispanic		CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2001 Feb;44(2):361-7	Low-binding alleles of Fcgamma receptor types IIA and IIIA are inherited independently and are associated with systemic lupus erythematosus in Hispanic patients		146790	10616	2	2001	 We observed an increase in the frequency of low-binding FcgammaR alleles in an SLE population with a high prevalence of renal disease. The apparent selection for the FcgammaRIIa-R131;FcgammaRIIIa-F176 haplotype in Hispanic patients suggests that low-binding alleles of both FcgammaRIIa and FcgammaRIIIa confer risk for SLE and may act additively in the pathogenesis of disease, whereas the high-binding haplotype FcgammaRIIa-H131;FcgammaRIIIa-V176 is protective, particularly in the homozygous state.	Control:53 disease-free control subjects;Case:67 Hispanic systemic lupus erythematosus (SLE):patients										
123199	Y	kidney transplant complications	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Yuan, F. F.  et al. 2004	15371685				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Transplantation. 2004 Sep;78(5):766-9	Association of Fc gamma receptor IIA polymorphisms with acute renal-allograft rejection.		146790	10607	2	2004	These results reveal a significant association between FcgammaRIIA-R/R131 and acute renal-graft rejection, and it is likely that FcgammaRIIA polymorphisms could be useful markers for potential risk of rejection.	Case renal-allograft recipients (rejectors) with acute graft rejection;Control a number of control groups										
123200	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2A	159741843	159760427		Pawlik, A.  et al. 2004	15675264				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Pol Arch Med Wewn. 2004 Aug;112(2):907-10	[The influence of FcgammaRIIa polymorphism on rheumatoid arthritis]		146790	10608	2	2004	Our results suggest, that FcgammaRIIa polymorphism does not represent an important genetic risk factor for RA activity.	Cohort 75 patients with rheumatoid arthritis 										
123201		otitis media; pneumococcal infection	INFECTION	INF		1	1q23	FCGR2A	159741843	159760427		Wiertsema, S. P.  et al. 2005	16198451				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Vaccine. 2006 Feb;24(6):792-7	Pneumococcal vaccine efficacy for mucosal pneumococcal infections depends on Fcgamma receptor IIa polymorphism.		146790	10609	2	2005			pneumococcal vaccination									
123196	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Tang, Y.  et al. 2004	15190804				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Chinese	China	CDC GDPinfo	2212	Hs.352642			Hua xi kou qiang yi xue za zhi. 2004 Apr;22(2):158-61	[The association between Fc gamma receptor IIA gene polymorphism and susceptibility to chronic periodontitis in Chinese Han nationality]		146790	10604	2	2004	 The Fc gamma RIIA-R/R131 genotype may be one of the contributors for the increased susceptibility to severe CP in Chinese Han nationality.	Case:63/103 Chinese Han patients with patients with severe chronic periodontitis (n=63) and mild to moderate chronic periodontitis (n=103);Control:80 healthy individuals										
123197	N	kidney transplant complications	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Pawlik, A.  et al. 2004	15251320				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Transplantation proceedings. 2004 Jun;36(5):1311-3	The FcgammaRIIa polymorphism in patients with chronic kidney graft rejection.		146790	10605	2	2004	The results suggest that the FcgammaRIIa polymorphism is not an important genetic risk factor for chronic rejection of kidney allografts.	Cohort 121 										
123198	Y	placental malaria	INFECTION	INF	Pregnancy Complications, Infectious|HIV Infections|Pregnancy Complications, Parasitic|Malaria|Placenta Diseases|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Brouwer, K. C.  et al. 2004	15319871				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Kenya	CDC GDPinfo	2212	Hs.352642			The Journal of infectious diseases. 2004 Sep;190(6):1192-8	Polymorphism of Fc receptor IIa for immunoglobulin G is associated with placental malaria in HIV-1-positive women in western Kenya.		146790	10606	2	2004	 The present study suggests that the IgG2-binding Fc gamma RIIa-His/His131 genotype is associated with enhanced susceptibility to PM in HIV-positive women but not in HIV-negative women.	Cohort 903 pregnant women of known human immunodeficiency virus (HIV)-1 status 	HIV									
123193		nephropathy in other diseases	RENAL	REN	Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Paula Bazilio, A.  et al. 2004	15004265				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Brazil	CDC GDPinfo	2212	Hs.352642			Nephrology, dialysis, transplantation. 2004 Jun;19(6):1427-31	Fc gamma RIIa polymorphism: a susceptibility factorfor immune complex-mediated lupus nephritis in Brazilian patients.		146790	10601	2	2004	 The skewed distribution of Fc gamma RIIa genotypes with the predominance of homozygous R/R131 genotype observed in lupus nephritis emphasizes its importance as a heritable risk factor for IC-mediated renal injury in Brazilian lupus patients.	Case:119 systemic lupus erythematosus patients;Control:48 healthy volunteers										
123194	Y	HIV	INFECTION	INF	Pregnancy Complications, Infectious|HIV Infections|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Brouwer, K. C.  et al. 2004	15166534				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			AIDS (London, England). 2004 May;18(8):1187-94	Polymorphism of Fc receptor IIa for IgG in infants is associated with susceptibility to perinatal HIV-1 infection		146790	10602	2	2004	 This study provides the first evidence that the infant Fc gamma RIIa His/His131 genotype is associated with susceptibility to perinatal HIV-1 transmission and further suggests that there is a dose-response relationship for the effect of the Fc gamma RIIa His131 gene on transmission.	Cohort 448 HIV-seropositive mothers and their infants from a cohort study 										
123195	N	kidney transplant complications	IMMUNE	IMM	Acute Disease	1	1q23	FCGR2A	159741843	159760427		Pawlik, A.  et al. 2003	15171001				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Annals of transplantation. 2003 ;8(4):24-6	The Fc gamma RIIa polymorphism in patients with acute kidney graft rejection.		146790	10603	2	2003	We suggest that Fc gamma RIIa polymorphism is not important risk factor for acute kidney graft rejection susceptibility.	Cohort 115 kidney allograft recipients 										
123190		systemic lupus erythematosus	IMMUNE	IMM		1	1q23	FCGR2A	159741843	159760427		Carrington, C. V.  et al. 2003	14641546				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			European journal of immunogenetics. 2003 Oct;30(5):375-9	Analysis of Fc gamma receptor II (CD32) polymorphism in populations of African and South Asian ancestry reveals east-west geographic gradients of allele frequencies.		146790	10598	2	2003	Comparison with other populations revealed east-west geographic gradients of allele frequencies.	Cohort Pakistanis and in Trinidadians of South Asian, African and mixed ancestry 										
123191	Y	malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Cooke, G. S.  et al. 2003	14740869				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Gambia	CDC GDPinfo	2212	Hs.352642			The American journal of tropical medicine and hygiene. 2003 Dec;69(6):565-8	Association of Fcgamma receptor IIa (CD32) polymorphism with severe malaria in West Africa.		146790	10599	2	2003	This is the first evidence for an association between CD32 polymorphism and severe malaria and provides an example of balancing selective pressures from different infectious diseases operating at the same genetic locus.	Cohort West Africans with mild and severe malarial disease 										
123192	N	atopy	IMMUNE	IMM	Asthma|Rhinitis|Dermatitis, Atopic	1	1q23	FCGR2A	159741843	159760427		Pawlik, A.  et al. 2004	14976391				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Poland	CDC GDPinfo	2212	Hs.352642			International archives of allergy and immunology. 2004 Mar;133(3):233-8	The FcgammaRIIa polymorphism in children with atopic diseases.		146790	10600	2	2004	 It seems that the FcgammaRIIa polymorphism does not represent an important genetic risk factor for atopic diseases susceptibility.	Control:126 healthy subjects;Case:140 atopic children										
123187	Y	antiphospholipid syndrome	IMMUNE	IMM	Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Karassa, F. B.  et al. 2003	12847687				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2003 Jul;48(7):1930-8	Role of the Fcgamma receptor IIA polymorphism in the antiphospholipid syndrome: an internationalmeta-analysis.		146790	10595	2	2003	 The FcgammaRIIA-R/H131 polymorphism is an important determinant of predisposition to APS, with different influences on SLE and APS susceptibility per se.	Control:1,420/1,655 SLE controls (n=1,420) and disease-free controls:(n=1,655);Case:481 antiphospholipid syndrome cases										
123188		platelet aggregation	HEMATOLOGICAL	HEM		1	1q23	FCGR2A	159741843	159760427		Chen, J.  et al. 2003	12871511	His131Arg			Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Journal of thrombosis and haemostasis. 2003 Feb;1(2):355-62	Platelet FcgammaRIIA His131Arg polymorphism and platelet function: antibodies to platelet-boundfibrinogen induce platelet activation.		146790	10596	2	2003	We concluded that (a) the His131Arg polymorphism of FcgammaRIIA does not affect intrinsic platelet reactivity; (b) RIBS antibodies are able to cross-link FcgammaRIIA and activate platelets, and this activation has a modest effect on Arg131 platelets; and (c) flow cytometric based platelet assays may need to compensate for this FcgammaRIIA His131Arg effect on platelet activation.	Cohort 73 healthy donors 										
123189	Y	lupus erythematosus	IMMUNE	IMM	Kidney Diseases|Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Khoa, P. D.  et al. 2003	14514134				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Vietnamese	Vietnam	CDC GDPinfo	2212	Hs.352642			Lupus. 2003 ;12(9):704-6	Fc gamma receptor II polymorphism in Vietnamese patients with systemic lupus erythematosus.		146790	10597	2	2003	The unusual distribution of Fc gammaRIIA polymorphism suggested that Fc gammaRIIA might be involved in the development of SLE in Vietnamese patients.	Control:43 healthy controls;Case:48 systemic lupus erythematosus patients										
123184	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Pawlik, A.  et al. 2002	12508778				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Poland	CDC GDPinfo	2212	Hs.352642			Clinical and experimental rheumatology. 2002 Nov-Dec;20(6):841-4	FC gamma RIIa polymorphism in patients with rheumatoid arthritis.		146790	10592	2	2002	 The results suggest that the Fc gamma RIIa polymorphism is not a risk factor for RA.	Control:148 healthy subjects;Case:82 patients with rheumatoid arthritis										
123185		lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Carrion, F.  et al. 2003	12643213				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Chile	CDC GDPinfo	2212	Hs.352642			Rev Med Chil. 2003 Jan;131(1):8-Nov	[Study of polymorphism of Fc gamma IIa receptors in Chilean patients with systemic lupus erythematosus]		146790	10593	2	2003	 Our results suggest that in Chilean patients with SLE, as well as in many other populations, the R131 allotype is not a major factor predisposing to the development of SLE or lupus nephritis.	Control:44 ethnically matched disease-free controls;Case:52 Chilean systemic lupus erythematosus patients										
123186	Y	Streptococcus pneumoniae	UNKNOWN	UNK	Pneumococcal Infections	1	1q23	FCGR2A	159741843	159760427		Yuan, F. F.  et al. 2003	12752683				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Immunology and cell biology. 2003 Jun;81(3):192-5	FcgammaRIIA polymorphisms in Streptococcus pneumoniae infection.		146790	10594	2	2003	Thus, it appears that the FcgammaRIIA-H131 polymorphic form, even in the heterozygous form, may be protective for pneumococcal sepsis and children with FcgammaRIIA-R/R131 genotype could be more at risk of infection with invasive Streptococcus pneu-moniae.	Case children with pneumococcal sepsis;Control healthy random donor population individuals and other control groups										
123181		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Yun, H. R.  et al. 2001	11480843				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Korean		CDC GDPinfo	2212	Hs.352642			Lupus. 2001 ;10(7):466-72	FcgammaRIIa/IIIa polymorphism and its association with clinical manifestations in Korean lupus patients		146790	10589	2	2001	In contrast to other ethnic patients, in our study cohort, clinical manifestation was different between male and female, and FcgammaRIIa and FcgammaRIIIa showed somewhat different clinical associations between the genders.	Control:197 disease-free controls;Case:300 systemic lupus erythematosus patients (48 male, 252 female) meeting 1982 ACR criteria:Korea										
123182	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR2A	159741843	159760427		Domingo, P.  et al. 2002	11812402				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			The American journal of medicine. 2002 Jan;112(1):19-25	Associations between Fc gamma receptor IIA polymorphisms and the risk and prognosis of meningococcal disease.		146790	10590	2	2002	 The FcgammaRIIA-R/R131 allotype is associated with more severe forms of meningococcal disease.	Case:130 patients with microbiologically proven meningococcal disease:1987-1998;Control:260 asymptomatic sex-matched blood donors										
123183	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Karassa, F. B.  et al. 2002	12115187				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			Arthritis and rheumatism. 2002 Jun;46(6):1563-71	Role of the Fcgamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis.		146790	10591	2	2002	 The FcgammaRIIa-R/H131 polymorphism represents a significant risk factor for SLE but has no clear effect on susceptibility for lupus nephritis.	Case:1,405/1,709 patients with lupus nephritis (n=1,405), and SLE patients without nephritis (n=1,709);Control:2580 non-SLE controls										
123178	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Botto M 1996	8625518				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian Afo-Caribbean and Chinese		Y Wang	2212	Hs.352642			Clinical and experimental immunology. 1996 May;104(2):264-8	Fc gamma RIIa polymorphism in systemic lupus erythematosus (SLE): no association with disease.		146790	2649	1	1996												
123179	Y	systemic lupus erythematosus; lupus nephritis	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Sato, H.  et al. 2001	11237133				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	CDC GDPinfo	2212	Hs.352642			Lupus. 2001 ;10(2):97-101	FcgammaRIIa polymorphism in Japanese patients with systemic lupus erythematosus.		146790	10587	2	2001	The difference in the distribution of FcgammaRIIa alleles between patients with SLE and normal subjects indicates that this polymorphism is a candidate of susceptibility gene for SLE in Japanese.	Control normal controls;Case:90 Japanese patients with systemic lupus erythematosus										
123180	Y	Malaria infection	INFECTION	INF	Malaria, Falciparum	1	1q23	FCGR2A	159741843	159760427		Shi, Y. P.  et al. 2001	11398118				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Kenya	CDC GDPinfo	2212	Hs.352642			The Journal of infectious diseases. 2001 Jul;184(1):107-11	Fcgamma receptor IIa (CD32) polymorphism is associated with protection of infants against high-density Plasmodium falciparum infection. VII. Asembo Bay Cohort Project.		146790	10588	2	2001	the FcgammaRIIa-Arg/Arg131 genotype, which does not bind to IgG2, is a host genetic factor for protection against high-density P. falciparum infection.	Case P. falciparum infected infants from a large community-based birth cohort study western Kenya;Control non-P. falciparum infected infants from a large community-based birth cohort study western Kenya	Plasmodium falciparum									
123175	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Gonzalez-Escribano MF 2002	12121275				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Spanish	Spain	Y Wang	2212	Hs.352642			European journal of immunogenetics. 2002 Aug;29(4):301-6	FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB polymorphisms in Spanish patients with systemic lupus erythematosus.		146790	2646	1	2002	With respect to the FcgammaRIIA-131 and FcgammaRIIIA-176 polymorphisms, no differences were found between patients and controls. Patient stratification according to their lupus-related nephritis status gave similar genotypic distribution patterns in both disease categories in all the cases.	Control:194 ethnically matched controls;Case:276 Spanish patients (34 male and 242 female) with systemic lupus erythematosus										
123176	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Karassa FB 2002	12115187				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			Y Wang	2212	Hs.352642			Arthritis and rheumatism. 2002 Jun;46(6):1563-71	Role of the Fcgamma receptor IIa polymorphism in susceptibility to systemic lupus erythematosus and lupus nephritis: a meta-analysis.		146790	2647	1	2002	 The FcgammaRIIa-R/H131 polymorphism represents a significant risk factor for SLE but has no clear effect on susceptibility for lupus nephritis.	Case:1,405/1,709 patients with lupus nephritis (n=1,405), and SLE patients without nephritis (n=1,709);Control:2580 non-SLE controls										
123177		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Carrion F 2003	12643213				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Chile	Y Wang	2212	Hs.352642			Rev Med Chil. 2003 Jan;131(1):8-Nov	Study of polymorphism of Fc gamma IIa receptors in Chilean patients with systemic lupus erythematosus , trans Estudio del polimorfismo de receptores Fc gamma IIa en pacientes chilenos con lupus eritematoso sistemico.		146790	2648	1	2003	 Our results suggest that in Chilean patients with SLE, as well as in many other populations, the R131 allotype is not a major factor predisposing to the development of SLE or lupus nephritis.	Control:44 ethnically matched disease-free controls;Case:52 Chilean systemic lupus erythematosus patients										
123172	Y	systemic lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Manger K 2002	12176802				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Germany	Y Wang	2212	Hs.352642			Annals of the rheumatic diseases. 2002 Sep;61(9):786-92	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms.		146790	2643	1	2002	 The results of this explorative study support the view that the FcgammaRIIa/IIIa and IIIb polymorphisms constitute factors influencing clinical manifestations and the disease course of SLE but do not represent genetic risk factors for the occurrence of SLE. Higher frequencies of clinical symptoms, haematological and immunological abnormalities as well as an earlier onset of clinical symptoms, haematological and immunological markers of active disease were found in patients with the IIA-R/R131 genotype and the double negative and triple negative genotypes.	Case:140 German patients with systemic lupus erythematosus:Germany;Control:187 German controls										
123173	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Karassa FB 2003	12847687				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			Y Wang	2212	Hs.352642			Arthritis and rheumatism. 2003 Jul;48(7):1930-8	Role of the Fcgamma receptor IIA polymorphism in the antiphospholipid syndrome: an international meta-analysis.		146790	2644	1	2003	 The FcgammaRIIA-R/H131 polymorphism is an important determinant of predisposition to APS, with different influences on SLE and APS susceptibility per se.	Control:1,420/1,655 SLE controls (n=1,420) and disease-free controls:(n=1,655);Case:481 antiphospholipid syndrome cases										
123174	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Dijstelbloem HM 2000	11145038				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian		Y Wang	2212	Hs.352642			Arthritis and rheumatism. 2000 Dec;43(12):2793-800	Fcgamma receptor polymorphisms in systemic lupus erythematosus: association with disease and in vivo clearance of immune complexes.		146790	2645	1	2000	 In Caucasian populations, the R/H polymorphism of FcgammaRIIa is a minor determinant in susceptibility to SLE, whereas the V/F polymorphism of FcgammaRIIIa is associated with a set of disease manifestations. Notably, the R/H polymorphism of FcgammaRIIa affects the clearance of immune complexes in vivo, which may influence the course of a disease such as SLE.	Control:154:controls;Case:230 Caucasian patients with SLE										
123169		systemic lupus erythematosus	IMMUNE	IMM	Hematologic Diseases|Lupus Erythematosus, Systemic|Immune System Diseases	1	1q23	FCGR2A	159741843	159760427		Manger K 1998	9663473				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian		Y Wang	2212	Hs.352642			Arthritis and rheumatism. 1998 Jul;41(7):1181-9	Fcgamma receptor IIa polymorphism in Caucasian patients with systemic lupus erythematosus: association with clinical symptoms.		146790	2640	1	1998	 The FcgammaRIIa polymorphism constitutes an additional factor that might influence the clinical manifestations and course of SLE, but does not represent a genetic risk factor for the occurrence of SLE.											
123170	Y	systemic lupus erythematosus	IMMUNE	IMM	Kidney Diseases|Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Khoa PD 2003	14514134				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Vietnam	Y Wang	2212	Hs.352642			Lupus. 2003 ;12(9):704-6	Fc gamma receptor II polymorphism in Vietnamese patients with systemic lupus erythematosus.		146790	2641	1	2003	The unusual distribution of Fc gammaRIIA polymorphism suggested that Fc gammaRIIA might be involved in the development of SLE in Vietnamese patients.	Control:43 healthy controls;Case:48 systemic lupus erythematosus patients										
123171		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Kyogoku C 2004	14872513				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian	California	Y Wang	2212	Hs.352642			Arthritis and rheumatism. 2004 Feb;50(2):671-3	Association of Fcgamma receptor IIA, but not IIB and IIIA, polymorphisms with systemic lupus erythematosus: A family-based association study in Caucasians.		146790	2642	1	2004												
123166	N	atopic disease	IMMUNE	IMM	Asthma|Rhinitis|Dermatitis, Atopic	1	1q23	FCGR2A	159741843	159760427		Pawlik A 2004	14976391				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Poland	KGB	2212	Hs.352642			International archives of allergy and immunology. 2004 Mar;133(3):233-8	The FcgammaRIIa polymorphism in children with atopic diseases.		146790	2637	1	2004	 It seems that the FcgammaRIIa polymorphism does not represent an important genetic risk factor for atopic diseases susceptibility.	Control:126 healthy subjects;Case:140 atopic children										
123167	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Pricop L 2002	12215902				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			Y Wang	2212	Hs.352642			Genes and immunity. 2002 Oct;3 Suppl 1:S47-50	Characterization of the FcgammaRIIA promoter and 5'UTR sequences in patients with systemic lupus erythematosus.		146790	2638	1	2002	The polymorphisms are present in both disease-free and SLE donors and do not associate with quantitative changes in FcgammaRIIa phagocytic function.	Control:20 normal donors;Case:53 systemic lupus erythematosus patients										
123168	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Sato H 2001	11237133				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	Y Wang	2212	Hs.352642			Lupus. 2001 ;10(2):97-101	FcgammaRIIa polymorphism in Japanese patients with systemic lupus erythematosus.		146790	2639	1	2001	The difference in the distribution of FcgammaRIIa alleles between patients with SLE and normal subjects indicates that this polymorphism is a candidate of susceptibility gene for SLE in Japanese.	Control normal controls;Case:90 Japanese patients with systemic lupus erythematosus										
123162		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Song YW 1998	9506569				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Korean	Korea	Y Wang	2212	Hs.352642			Arthritis and rheumatism. 1998 Mar;41(3):421-6	Abnormal distribution of Fc gamma receptor type IIa polymorphisms in Korean patients with systemic lupus erythematosus.		146790	2633	1	1998	 An abnormal distribution of Fc gammaRIIa polymorphisms was associated with SLE in Korean patients. There was a significant decrease in the Fc gammaRIIa-H/H131 genotype and H131 allelic frequency in SLE patients, particularly in those with nephritis. This suggests that the H131 allele confers some protection from SLE in this population.											
123163		systemic lupus erythematosus	IMMUNE	IMM	Pneumococcal Infections|Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Yee AM 1997	9182932				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			Y Wang	2212	Hs.352642			Arthritis and rheumatism. 1997 Jun;40(6):1180-2	Fc gammaRIIA polymorphism as a risk factor for invasive pneumococcal infections in systemic lupus erythematosus.		146790	2634	1	1997												
123164		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Yun HR 2001	11480843				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Korean		Y Wang	2212	Hs.352642			Lupus. 2001 ;10(7):466-72	FcgammaRIIa/IIIa polymorphism and its association with clinical manifestations in Korean lupus patients.		146790	2635	1	2001	In contrast to other ethnic patients, in our study cohort, clinical manifestation was different between male and female, and FcgammaRIIa and FcgammaRIIIa showed somewhat different clinical associations between the genders.	Control:197 disease-free controls;Case:300 systemic lupus erythematosus patients (48 male, 252 female) meeting 1982 ACR criteria:Korea										
123159	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427	n	Kyogoku C et al. 2002	12115230	H131R		coding sequence	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan|Netherlands	Tsuchiya N	2212	Hs.352642			Arthritis and rheumatism. 2002 May;46(5):1242-54			146790	2630	1	2002	 These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.	Case:193; Control:303										
123160		Lupus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Yap SN et al. 1999	10413210				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Chinese	Malaysia|China	KGB	2212	Hs.352642			Lupus. 1999 ;8(4):305-10	Human Fc gamma receptor IIA (FcgammaRIIA) genotyping and association with systemic lupus erythematosus (SLE) in Chinese and Malays in Malaysia.		146790	2631	1	1999												
123161	Y	Severe Malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427	0.03	Cooke GS, Aucan C et al. Am J Trop Med Hyg 2003	14740869	(H/R131)	A single nucleotide change within the CD32 molecule alters a histidine (H) to an arginine (R) residue at position 131 and changes its function in vitro. The presence of the H131 allele is essential for the efficient binding of IgG2 subtypes.1 In its absen	coding sequence	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Gambia	Gambia	Christophe Aucan	2212	Hs.352642	Cerebral Malaria, Severe Malarial Anaemia, Mild Malaria		The American journal of tropical medicine and hygiene. 2003 Dec;69(6):565-8	Association of Fcgamma receptor IIa (CD32) polymorphism with severe malaria in West Africa		146790	2632	1	2003	This is the first evidence for an association between CD32 polymorphism and severe malaria and provides an example of balancing selective pressures from different infectious diseases operating at the same genetic locus.	Cohort West Africans with mild and severe malarial disease										
123156		lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced	IMMUNE	IMM		1	1q21.2-q21.3	FCGR1A	148020911	148030698		Van Der Pol, W. L.  et al. 2003	12830330				Fc fragment of IgG, high affinity Ia, receptor (CD64)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000566.2			CDC GDPinfo	2209	Hs.77424			Immunogenetics. 2003 Jul;55(4):240-6	Evidence for non-random distribution of Fcgamma receptor genotype combinations.		146760	16661	2	2003	This study provides important information for the interpretation of studies reporting associations of FcgammaR alleles with disease, and underscores the apparent differences in FcgammaR heterogeneity between ethnic groups.	Cohort 514/149 Dutch Caucasian (n=514) and Japanese blood donors (n=149) 										
123157		fulminant meningococcal septic shock in children	INFECTION	INF	Meningitis, Meningococcal|Shock, Septic	1	1q23	FCGR2A	159741843	159760427	0.03	Bredius RG 1994	7930726	FCGR2AR131R			Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	25 SS children		KGB	2212	Hs.352642			The Journal of infectious diseases. 1994 Oct;170(4):848-53			146790	2628	1	1994												
123158	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2A	159741843	159760427	n	Kyogoku C et al. 2002	12486608	H131R		coding sequence	Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Japanese	Japan	Tsuchiya N	2212	Hs.352642			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		146790	2629	1	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
123153		Atopy	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	19	19p13.3	FCER2	7659661	7672999		Laitinen T 2000	10712310				Fc fragment of IgE, low affinity II, receptor for (CD23A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC027879	Finnish	Finland|Spain	KGB	2208	Hs.465778			American journal of respiratory and critical care			151445	2626	1	2000												
123154	Y	Atopy	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	19	19p13.3	FCER2	7659663	7670969		Laitinen T 2000	10712310				Fc fragment of IgE, low affinity II, receptor for (CD23A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC027879		Finland|Spain	KGB	2208	Hs.465778			American journal of respiratory and critical care			151445	2627	1	2000												
123155	Y	asthma; allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate|Genetic Predisposition to Disease	1	1q21.2-q21.3	FCGR1A	148020911	148030698		Korzycka-Zaborowska, B.  et al. 2004	15087090				Fc fragment of IgG, high affinity Ia, receptor (CD64)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000566.2	Polish	Poland	CDC GDPinfo	2209	Hs.77424			Allergologia et immunopathologia. 2004 Mar-Apr;32(2):53-8	Genetic variants of FcepsilonRIbeta and Il-4 and atopy in a Polish population.		146760	16644	2	2004	 The results suggest that FcRIint2 polymorphism is related to atopy and may influence its development.	Control:87 non-atopic, non-asthmatic controls;Case:98 unrelated patients with asthma and/or allergic:rhinitis:Lodz, Poland										
123150		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Hypersensitivity, Immediate	1	1q23	FCER1G	159451710	159455662		Tenbrock, K.  et al. 2002	11980568				Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004106.1			CDC GDPinfo	2207	Hs.433300			Clin Sci (Lond).. 2002 May;102(5):507-12	Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome.		147139	10586	2	2002	We conclude that  polymorphisms in the IL4 receptor, the high-affinity IgE receptor and IL13 do not seem to predict the clinical course of NS, despite the fact that serum IgE elevations are more frequent in patients with NS than in normal control subjects. The investigated polymorphisms may contribute to the IgE switch in patients with NS.	Control healthy controls;Case:78 atopic children with nephrotic syndrome (n=33) and nephrotic syndrome patients without atopy (n=45)										
123151		asthma	IMMUNE	IMM	Asthma	1	1q23	FCER1G	159451710	159455662		Nanavaty, U.  et al. 2001	11202474				Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004106.1			CDC GDPinfo	2207	Hs.433300			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		147139	24411	2	2001	Review article											
123152		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q23	FCER1G	159451710	159455662		Humma, L. M.  et al. 2002	12116890				Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004106.1			CDC GDPinfo	2207	Hs.433300			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		147139	27910	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
123147		asthma	IMMUNE	IMM	Asthma	1	1q23	FCER1A	157526129	157544638		Zhang, X.  et al. 2004	15562891	E237G			Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2	Chinese		CDC GDPinfo	2205	Hs.897			Annals of allergy, asthma & immunology. 2004 Nov;93(5):499-503	The E237G polymorphism of the high-affinity IgE receptor beta chain and asthma.		147140	10584	2	2004	 There were interethnic differences in the frequencies of the G variant among Chinese, Malay, and Indian populations. The E237G polymorphism of FcsRI beta may be a risk factor for asthma in the Chinese population.	Case:291 asthmatic patients (141 Chinese, 68 Malay, and 82:Indian);Control:355 asymptomatic blood donors (157 Chinese, 100 Malay, and 98 Indian)										
123148		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	1	1q23	FCER1A	157526129	157544638		Arnaiz, N. O.  et al. 2003	14655898				Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2		Washington	CDC GDPinfo	2205	Hs.897			Archives of environmental health. 2003 Apr;58(4):197-200	Genetic factors and asthma in aluminum smelter workers		147140	21407	2	2003	The asthma-like condition associated with potroom work remains poorly understood. Future investigations of genetic susceptibility and occupational asthma may provide pathophysiologic insights into these work-related conditions, but larger numbers of subjects will be required.	Control smelter potroom workers who didn't develop respiratory problems;Case smelter potroom workers who developed asthma-like:conditions										
123149		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCER1G	159451710	159455662		Wu J 2002	11898918				Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004106.1			Y Wang	2207	Hs.433300			Lupus. 2002 ;11(1):42-5	Conservation of FcepsilonRI gamma chain coding region in normals and in SLE patients.		147139	2625	1	2002												
123144	N	nephropathy	OTHER	OTH	Kidney Diseases|Glomerulonephritis|Glomerulonephritis, IGA	1	1q23	FCER1A	157526129	157544638		Narita, I.  et al. 2001	11776381			promoter	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2			CDC GDPinfo	2205	Hs.897			Journal of human genetics. 2001 ;46(12):694-8	Genetic polymorphisms in the promoter and 5' UTR region of the Fc alpha receptor (CD89) are not associated with a risk of IgA nephropathy.		147140	10581	2	2001	The present study indicates that the analyzed polymorphisms of the FcalphaR gene do not appear to be primarily involved in the susceptibility to IgAN.	Case:151 patients with immunoglobulin A glomerulonephritis;Control:163 patients with other glomerular diseases shown to have no mesangial IgA deposition by renal biopsy										
123145	Y	allergic diseases	IMMUNE	IMM	Hypersensitivity, Immediate	1	1q23	FCER1A	157526129	157544638		Hasegawa, M.  et al. 2003	12902495	-66T/C		promoter	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2			CDC GDPinfo	2205	Hs.897			Journal of immunology (Baltimore, Md :  1950). 2003 Aug;171(4):1927-33	A novel -66T/C polymorphism in Fc epsilon RI alpha-chain promoter affecting the transcription activity: possible relationship to allergicdiseases.		147140	10582	2	2003	Our findings for the first time demonstrate the presence of FcepsilonRIalpha polymorphism related to the allergic diseases.	Case allergic individuals;Control nonallergic individuals										
123146	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCER1A	157526129	157544638		Kaneko, S.  et al. 2004	15140034				Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2			CDC GDPinfo	2205	Hs.897			Tissue antigens. 2004 Jun;63(6):572-7	A novel polymorphism of FcalphaRI (CD89) associated with aggressive periodontitis.		147140	10583	2	2004	These results document a genetic polymorphism at the FcalphaRI ligand-binding site to be associated with susceptibility to AGP.	Case:46 Japanese aggressive periodontitis patients;Control:80 race-matched healthy controls										
123141	N	Ignephropathy	OTHER	OTH	Kidney Diseases|Glomerulonephritis|Glomerulonephritis, IGA	19	19q13.2-q13.4	CD89	60077360	60092251	n	Narita I et al. 2001	11776381			promoter	Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000			KGB	2204	Hs.193122			Journal of human genetics. 2001 ;46(12):694-8	Genetic polymorphisms in the promoter and 5' UTR region of the Fc alpha receptor (CD89) are not associated with a risk of IgA nephropathy.			2575	1	2001												
123142	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	19	19q13.2-q13.4	FCAR	60077360	60093650		Tsuge, T.  et al. 2001	11281451			promoter	Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000.2			CDC GDPinfo	2204	Hs.631534			Human genetics. 2001 Feb;108(2):128-33	Polymorphism in promoter region of Fcalpha receptor gene in patients with IgA nephropathy.		147045	10579	2	2001	Polymorphisms of the FcalphaR promoter region therefore appear to be associated with susceptibility to IgA nephropathy, suggesting the importance of the FcalphaR gene and its expression in this disease.	Control:50 patients with other primary glomerulonephritis;Control:83 healthy adults;Case:90 patients with IgA nephropathy										
123143	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19q13.2-q13.4	FCAR	60077360	60093650		Jasek, M.  et al. 2004	15564774				Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000.2			CDC GDPinfo	2204	Hs.631534			International archives of allergy and immunology. 2004 Dec;135(4):325-31	Are single nucleotide polymorphisms of the immunoglobulin A Fc receptor gene associated with allergic asthma?		147045	10580	2	2004	 FcalphaRI polymorphism does not seem to be a risk factor in allergic asthma. Nevertheless, this is the first report on the distribution of 6 single nucleotide polymorphisms of the FCAR gene in a human population and the first study on FCAR polymorphism in allergic asthma.	Control:100 healthy controls;Case:112 patients diagnosed with allergic asthma										
123137	Y	Marfan syndrome	DEVELOPMENTAL	DEV	Marfan Syndrome	15	15q21.1	FBN1	46487796	46725210		Loeys, B.  et al. 2004	15241795				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDPinfo	2200	Hs.591133			Human mutation. 2004 Aug;24(2):140-6	Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.		134797	16641	2	2004	In conclusion, the involvement of the FBN1-gene could be demonstrated in at least 91% of all MFS patients (85/93), which strongly suggests that this gene is the predominant, if not the sole, locus for MFS.	Cohort 93 Marfan syndrome patients 										
123139	Y	congenital contractural arachnodactyly	DEVELOPMENTAL	DEV	Contracture|Connective Tissue Diseases|Syndrome	5	5q23-q31	FBN2	127621499	127901815		Maslen C et al. 1997	9199560			splice variant	Fibrillin 2 (congenital contractural arachnodactyly)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001999.3			KGB	2201	Hs.519294			American journal of human genetics. 1997 Jun;60(6):1389-98	A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.		121050	2572	1	1997												
123140	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	5	5q23-q31	FBN2	127621499	127901815		Yoneyama, T.  et al. 2003	12750963				Fibrillin 2 (congenital contractural arachnodactyly)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001999.3			CDC GDPinfo	2201	Hs.519294			Journal of human genetics. 2003 ;48(6):309-14	Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.		121050	18062	2	2003	No associations of FBN2 and LOX with IA were detected in the present study.	Case:172 intracranial aneurysm patients;Control:192:controls										
123134	Y	Marfan syndrome	DEVELOPMENTAL	DEV	Marfan Syndrome|Ectopia Lentis|Aortic Valve Insufficiency|Aortic Valve Stenosis|Mitral Valve Prolapse|Aortic Aneurysm	15	15q21.1	FBN1	46487796	46725210		Loeys, B.  et al. 2001	11700157				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDPinfo	2200	Hs.591133			Archives of internal medicine. 2001 Nov;161(20):2447-54	Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.		134797	16638	2	2001	 This study showed a significant difference in the number of FBN1 mutations between patients fulfilling and those not fulfilling the diagnostic criteria for MFS, which seems to be a good predictor of the presence of an FBN1 mutation. A comprehensive clinical evaluation is mandatory before establishing a definitive diagnosis. An FBN1 mutation analysis is helpful to identify individuals at high risk for MFS who need careful follow-up, particularly in families displaying phenotypic variability and in children.	Cohort 171 consecutive patients referred for FBN1 analysis because either MFS was diagnosed or they had signs suggestive of MFS 										
123135	Y	coronary artery disease; aortic stiffness	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q21.1	FBN1	46487796	46725210		Medley, T. L.  et al. 2002	11854120				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDPinfo	2200	Hs.591133			Circulation. 2002 Feb;105(7):810-5	Fibrillin-1 genotype is associated with aortic stiffness and disease severity in patients with coronary artery disease.		134797	16639	2	2002	 Although a causative link has not been shown, these data are consistent with an important role for fibrillin-1 genotype in cardiovascular risk associated with large-artery stiffening and pulse pressure elevation in individuals with coronary disease.	Cohort 145 Patients (113 men), 62+/-9 years of age (mean+/-SD), with angiographically confirmed coronary disease 										
123136		sclerosis, systemic	OTHER	OTH	Scleroderma, Systemic	15	15q21.1	FBN1	46487796	46725210		Kodera, T.  et al. 2002	12384286			promoter	Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Japanese	Japan	CDC GDPinfo	2200	Hs.591133			Gene. 2002 Sep;297(2-Jan):61-7	Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma.		134797	16640	2	2002	Sequence analysis revealed eight coding and 14 non-coding SNPs and other polymorphisms. Among them, a CT insertion in the 5'-untranslated region of exon A had a significant negative association with disease.	Case:22 patients with systemic sclerosis:Japan;Control:25 healthy volunteers lacking any feature of systemic:sclerosis										
123131	Y	mitral valve prolapse.	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Mitral Valve Insufficiency|Genetic Predisposition to Disease	15	15q21.1	FBN1	46487796	46725210		Chou HT 2003	12918850				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3		Taiwan	KGB	2200	Hs.591133			The Journal of heart valve disease. 2003 Jul;12(4):475-81	Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse.		134797	2571	1	2003	 Patients with MVP have higher frequencies of FBN1 exon 15 TT and exon 27 GG genotypes, which supports a role of the FBN1 exon 15 and 27 polymorphisms in determining the risk of MVP among the Chinese population in Taiwan.	Case:100 patients with mitral valve prolapse:Taiwan;Control:140 age- and sex-matched normal controls										
123132	Y	systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	15	15q21.1	FBN1	46487796	46725210		Tan, F. K.  et al. 2001	11315929				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Japanese	United States|Japan	CDC GDPinfo	2200	Hs.591133			Arthritis and rheumatism. 2001 Apr;44(4):893-901	Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations		134797	10577	2	2001	 A SNP in the 5'-untranslated region of FBN1 (SNP-1, C allele) was strongly associated with SSc in the Choctaw. Furthermore, this polymorphism is present on 2 unique FBN1 haplotypes found only in Choctaw SSc patients. The same 2 haplotypes demonstrate associations with SSc in the Japanese. These data extend the earlier microsatellite studies and are consistent with the hypothesis that FBN1 or a nearby gene on chromosome 15q is involved in SSc susceptibility in the Choctaw and the Japanese.	Case:18 Choctaw patients with systemic sclerosis;Control:49 normal Chotaw subjects, age and sex matched;Control:50 healthy subjects recruited from an academic medical center in Tokyo:Japan;Case:53 systemic sclerosis patients:Japan										
123133	Y	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Mitral Valve Insufficiency|Genetic Predisposition to Disease	15	15q21.1	FBN1	46487796	46725210		Chou, H. T.  et al. 2003	12918850				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Chinese	Taiwan	CDC GDPinfo	2200	Hs.591133			The Journal of heart valve disease. 2003 Jul;12(4):475-81	Association between fibrillin-1 gene exon 15 and 27 polymorphisms and risk of mitral valve prolapse.		134797	10578	2	2003	 Patients with MVP have higher frequencies of FBN1 exon 15 TT and exon 27 GG genotypes, which supports a role of the FBN1 exon 15 and 27 polymorphisms in determining the risk of MVP among the Chinese population in Taiwan.	Case:100 patients with mitral valve prolapse:Taiwan;Control:140 age- and sex-matched normal controls										
123127	Y	scleroderma	OTHER	OTH	Scleroderma, Systemic	15	15q21.1	FBN1	46487796	46725210		Kodera T et al. 2002	12384286			promoter	Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Japanese	Japan	KGB	2200	Hs.591133			Gene. 2002 Sep;297(2-Jan):61-7	Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma.		134797	2567	1	2002	Sequence analysis revealed eight coding and 14 non-coding SNPs and other polymorphisms. Among them, a CT insertion in the 5'-untranslated region of exon A had a significant negative association with disease.	Case:22 patients with systemic sclerosis:Japan;Control:25 healthy volunteers lacking any feature of systemic:sclerosis										
123129	Y	aortic stiffness and disease severity	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q21.1	FBN1	46487796	46725210		Medley TL et al. 2002	11854120				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			KGB	2200	Hs.591133			Circulation. 2002 Feb;105(7):810-5	Fibrillin-1 genotype is associated with aortic stiffness and disease severity in patients with coronary artery disease.		134797	2569	1	2002	 Although a causative link has not been shown, these data are consistent with an important role for fibrillin-1 genotype in cardiovascular risk associated with large-artery stiffening and pulse pressure elevation in individuals with coronary disease.	Cohort 145 Patients (113 men), 62+/-9 years of age (mean+/-SD), with angiographically confirmed coronary disease										
123130	Y	Marfan phenotype	DEVELOPMENTAL	DEV	Marfan Syndrome	15	15q21.1	FBN1	46487796	46725210		Putnam EA et al. 1996	8882780				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			KGB	2200	Hs.591133			American journal of medical genetics. 1996 Mar;62(3):233-42	Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.		134797	2570	1	1996												
123124		macular degeneration	VISION	VIS	Macular Degeneration	14	14q32.1	FBLN5	91405507	91483788		Stone, E. M.  et al. 2004	15269314				Fibulin 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006329.2			CDC GDPinfo	10516	Hs.332708			The New England journal of medicine. 2004 Jul;351(4):346-53	Missense variations in the fibulin 5 gene and age-related macular degeneration.		604580	16637	2	2004	 Missense mutations in the fibulin 5 gene were found in 1.7 percent of patients with AMD. Many variations in other fibulin genes were also found in these patients, and the evolutionary conservation of the affected residues suggests that several of these variations may also be involved in AMD.	Case:402 patients with age-related macular degeneration;Control:429 control subjects										
123125	Y	systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	15	15q21.1	FBN1	46487796	46725210		Tan FK et al. 2001	11315929				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Japanese	United States|Japan	KGB	2200	Hs.591133			Arthritis and rheumatism. 2001 Apr;44(4):893-901	Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations.		134797	2565	1	2001	 A SNP in the 5'-untranslated region of FBN1 (SNP-1, C allele) was strongly associated with SSc in the Choctaw. Furthermore, this polymorphism is present on 2 unique FBN1 haplotypes found only in Choctaw SSc patients. The same 2 haplotypes demonstrate associations with SSc in the Japanese. These data extend the earlier microsatellite studies and are consistent with the hypothesis that FBN1 or a nearby gene on chromosome 15q is involved in SSc susceptibility in the Choctaw and the Japanese.	Case:18 Choctaw patients with systemic sclerosis;Control:49 normal Chotaw subjects, age and sex matched;Control:50 healthy subjects recruited from an academic medical center in Tokyo:Japan;Case:53 systemic sclerosis patients:Japan										
123126	Y	cardiovascular	CARDIOVASCULAR	CARD		15	15q21.1	FBN1	46487796	46725210		Powell JT et al. 1997	9404258				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			KGB	2200	Hs.591133			Heart (British Cardiac Society). 1997 Oct;78(4):396-8	An association between arterial pulse pressure and variation in the fibrillin-1 gene.		134797	2566	1	1997	 There appears to be a significant association between fibrillin-1 genotype and arterial pulse pressure in men aged 50 to 61 years.											
123121	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	1	1q23	FASLG	170894807	170902635		Vasilescu, A.  et al. 2004	15042330				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Immunogenetics. 2004 Apr;56(1):56-60	Genomic analysis of Fas and FasL genes and absence of correlation with disease progression in AIDS.		134638	21404	2	2004	We did not find any statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression.	Control:155 healthy controls of Caucasian origin;Case:212 HIV-1-seropositive patients presenting extreme disease phenotypes										
123122		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia|Lupus Erythematosus, Systemic	1	1q23	FASLG	170894807	170902635		Nolsoe, R. L.  et al. 2005	16163374				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		United States	CDC GDPinfo	356	Hs.2007			Genes and immunity. 2005 Dec;6(8):699-706	Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia.		134638	21405	2	2005	We conclude that  the FAS/FASL promoter haplotypes are functional and that polymorphisms in FAS may contribute to thrombocytopenia in SLE.											
123123		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Relapsing-Remitting	1	1q23	FASLG	170894807	170902635		Lucas, M.  et al. 2004	15218339				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Spanish		CDC GDPinfo	356	Hs.2007			European neurology. 2004 ;52(1):7-Dec	A study of promoter and intronic markers of ApoI/Fas gene and the interaction with Fas ligand in relapsing multiple sclerosis.		134638	21406	2	2004	In conclusion, our findings suggest a weak association between the intronic marker Fas-MaeI and MS and a relative interaction with Fas ligand in an MS cohort of South Spanish extraction.	Control:215 healthy individuals;Case:312 relapsing multiple sclerosis patients of Spanish:extraction:Spain										
123117	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Zhang, X.  et al. 2005	15937082				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Journal of medical genetics. 2005 Jun;42(6):479-84	Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer.		134638	21400	2	2005	 These results are consistent with our initial findings in oesophageal cancer and further support the hypothesis that the FAS and FASL triggered apoptosis pathway plays an important role in human carcinogenesis.	Case:1,000 lung cancer patients;Control:1,270:controls										
123119		HIV	INFECTION	INF	HIV Infections	1	1q23	FASLG	170894807	170902635		Nasi, M.  et al. 2005	16158329				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Immunogenetics. 2005 Oct;57(9):628-35	Genetic polymorphisms of Fas (CD95) and Fas ligand (CD178) influence the rise in CD4+ T cell count after antiretroviral therapy in drug-na????ve HIV-positive patients.		134638	21402	2	2005												
123120		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635			16313826				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Zhonghua yi xue za zhi. 2005 Aug;85(30):2132-5	[Genetic polymorphisms of apoptosis-associated genes FAS and FASL and risk of colorectal cancer.]		134638	21403	2	2005	 These findings suggest that the FAS-1377G/A and FASL-844T/C polymorphisms may be genetic susceptibility factors for colorectal cancer among Chinese population.											
123114		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q23	FASLG	170894807	170902635		Kantarci, O. H.  et al. 2004	14698859				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Journal of neuroimmunology. 2004 Jan;146(2-Jan):162-70	CD95 polymorphisms are associated with susceptibility to MS in women. A population-based study of CD95 and CD95L in MS		134638	21397	2	2004	Our results agree with the previously published studies and highlight that the association of the polymorphisms is restricted to women with MS. We did not find an association between CD95L and susceptibility to MS nor CD95 or CD95L and age of onset, disease course and disease severity.	Case:221 multiple sclerosis patients representing 79% ascertainment in Olmsted County, MN Olmsted County, MN;Control:442 gender-, age- and ethnicity-matched controls										
123115	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Disease Progression	1	1q23	FASLG	170894807	170902635		Sun, T.  et al. 2004	15240787				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		China	CDC GDPinfo	356	Hs.2007			Journal of the National Cancer Institute. 2004 Jul;96(13):1030-6	Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma.		134638	21398	2	2004	 Genetic polymorphisms in the death pathway genes FAS and FASL appear to be associated with an increased risk of developing esophageal squamous-cell carcinoma.	Case:588 esophageal squamous-cell carcinoma;Control:648 control subjects	smoking (tobacco)									
123116		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Fernandez, R. M.  et al. 2005	15806311				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			International journal of molecular medicine. 2005 May;15(5):865-9	Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.		134638	21399	2	2005	Our results show that the differences in the distribution of the polymorphic variants were not statistically significant when the group of patients was compared to the other groups. Thus, it seems to indicate that the variants here analysed are not involved in the pathogenesis of the disease in our population. However this does not let us to completely exclude such genes as potential candidates for the disease. A complete genetic analysis of the genes involved in the intricate regulatory system of the apoptosis may lead to the identification of susceptibility factors for the disease and a better understanding of its etiology.	Case women with endometriosis;Control women without symptoms of endometriosis and confirmed unaffected women										
123111		Crohn's disease	IMMUNE	IMM	Intestinal Fistula|Crohn Disease	1	1q23	FASLG	170894807	170902635		Hlavaty, T.  et al. 2005	16181301				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Alimentary pharmacology & therapeutics. 2005 Oct;22(7):613-26	Polymorphisms in apoptosis genes predict response to infliximab therapy in luminal and fistulizing Crohn's disease.		134638	21394	2	2005	 We observed that polymorphisms in FasL/Fas system and caspase-9 influence the response to infliximab in luminal and fistulizing Crohn's disease. The strongest association was seen between the Fas ligand -843 TT genotype and non-response. Concomitant mercaptopurine/azathioprine therapy, however, was able to overcome the effect of unfavourable genotypes in luminal disease.		azathioprine infliximab mercaptopurine									
123112		Sjogren's syndrome, primary	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Bolstad, A. I.  et al. 2000	11036836				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		Norway	CDC GDPinfo	356	Hs.2007			The Journal of rheumatology. 2000 Oct;27(10):2397-405	Fas and Fas ligand gene polymorphisms in primary Sjogren's syndrome.		134638	21395	2	2000	 We describe the positions and frequencies of several polymorphisms in the genes encoding Fas and FasL in patients with primary SS. None caused any amino acid change. Three Fas alleles, of which one is located in the promoter area, showed significant although modest differences between patients and controls.	Case:70 patients with primary Sjogren's syndrome;Control:72:controls										
123113	N	longevity	AGING	AGE		1	1q23	FASLG	170894807	170902635		Pinti, M.  et al. 2002	11965496				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Cell death and differentiation. 2002 Apr;9(4):431-8	Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies oncentenarians.		134638	21396	2	2002	On the whole, our data suggest that Fas and FasL polymorphisms, as well as their haplotypes, are unlikely to be associated with successful human longevity.	Case:50:centenarians Northern Italy;Control:86 young donors										
123108	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q23	FASLG	170894807	170902635		Rosenmann, H.  et al. 2004	14739535			promoter	Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		Israel	CDC GDPinfo	356	Hs.2007			Dementia and geriatric cognitive disorders. 2004 ;17(3):143-6	The Fas Promoter Polymorphism at Position -670 Is Not Associated with Late-Onset Sporadic Alzheimer's Disease		134638	10574	2	2004	These findings show no evidence for an association between the Fas promoter polymorphism at position -670 and AD in our population.	Control:controls;Case:86/19 Jewish sporadic late onset (n=96) and early onset (n=19) Alzheimer's disease patients										
123109	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Chen, J. Y.  et al. 2005	15674374	-844C/C		promoter	Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Taiwanese	Taiwan	CDC GDPinfo	356	Hs.2007			Genes and immunity. 2005 Mar;6(2):123-8	The -844C/T polymorphism in the Fas ligand promoter associates with Taiwanese SLE.		134638	10575	2	2005	This study confirmed that -844C/C genotype is associated with lupus susceptibility. The -1094A/C polymorphism is not significantly associated with lupus disease susceptibility, albeit the role of NF-kappaB pathway in FasL promoter activation remains unclear. Fas/FasL pathway may contribute to SLE polygenic disease entity.	Case:260 systemic lupus erythematosus patients:Taiwan;Control:280 healthy controls										
123110	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Sun, T.  et al. 2005	16186185	-844C/C			Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			The Journal of experimental medicine. 2005 Oct;202(7):967-74	FASL -844C polymorphism is associated with increased activation-induced T cell death and risk of cervical cancer.		134638	10576	2	2005												
123106	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q23	FASLG	170894807	170902635		Zayas, M. D.  et al. 2001	11438180				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Journal of neuroimmunology. 2001 Jun;116(2):238-41	Association of a CA repeat polymorphism upstream of the Fas ligand gene with multiple sclerosis.		134638	10572	2	2001	The results suggest that chromosomes with B allele have a genetic background that reduces susceptibility to MS, particularly in the familial forms.	Control:139 healthy controls in Spanish and American:populations:US, Spain;Case:177 unrelated relapsing and remitting multiple sclerosis (MS) patients in Spanish and American:populations:US, Spain										
123107	N	Graves' disease	IMMUNE	IMM	Autoimmune Diseases|Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Stuck, B. J.  et al. 2003	12559631				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		Germany|Italy	CDC GDPinfo	356	Hs.2007			Human immunology. 2003 Feb;64(2):285-9	Fas ligand gene polymorphisms are not associated with Hashimoto's thyroiditis and Graves' disease		134638	10573	2	2003	In conclusion, our data do not suggest common genetic FasL variants to significantly contribute to the pathogenesis of either Hashimoto's thyroiditis or Graves' disease.	Control:197 healthy controls;Case:251 patients with Grave's disease										
123102	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1q23	FASLG	170894807	170902635	n	Nolsoe RL et al. 2002	11845233				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		Denmark	Y Wang	356	Hs.2007			Diabetologia. 2002 Jan;45(1):134-9	Complete mutation scan of the human Fas ligand gene: linkage studies in Type Idiabetes mellitus families.		134638	7566	1	2002												
123103		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FASLG	170894807	170902635		Kojima T 2000	10643709				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			Y Wang	356	Hs.2007			Arthritis and rheumatism. 2000 Jan;43(1):135-9	Analysis of fas ligand gene mutation in patients with systemic lupus erythematosus.		134638	7567	1	2000	 Using the same methods used in the present studies (PCR/SSCP), one group of investigators identified a structural defect of the FasL molecule in 1 of 75 SLE patients evaluated. Among the 143 SLE patients in the present study, however, we did not identify any mutations or polymorphisms of the FasL gene. Our results suggest that a FasL defect is not the major contributing factor in the pathogenesis of SLE.											
123104		systemic lupus erythematosus	IMMUNE	IMM	Lymphoproliferative Disorders|Lupus Erythematosus, Systemic|Syndrome	1	1q23	FASLG	170894807	170902635		Wu J 1996	8787672				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			Y Wang	356	Hs.2007			The Journal of clinical investigation. 1996 Sep;98(5):1107-13	Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.		134638	7568	1	1996												
123099		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	FAS	90740267	90765522		Prince, J. A.  et al. 2001	11436125				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		Sweden	CDC GDPinfo	355	Hs.244139			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		134637	28043	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
123100	N	Longevity	AGING	AGE		1	1q23	FASLG	170894807	170902635		Pinti M 2002	11965496	CD178			Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Northern Italy		TJB	356	Hs.2007			Cell death and differentiation. 2002 Apr;9(4):431-8	Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies oncentenarians.		134638	857	1	2002	On the whole, our data suggest that Fas and FasL polymorphisms, as well as their haplotypes, are unlikely to be associated with successful human longevity.	Case:50:centenarians Northern Italy;Control:86 young donors										
123101	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q23	FASLG	170894807	170902635		Zayas MD et al. 2001	11438180				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			KGB	356	Hs.2007			Journal of neuroimmunology. 2001 Jun;116(2):238-41	Association of a CA repeat polymorphism upstream of the Fas ligand gene with multiple sclerosis.		134638	858	1	2001	The results suggest that chromosomes with B allele have a genetic background that reduces susceptibility to MS, particularly in the familial forms.	Control:139 healthy controls in Spanish and American:populations:US, Spain;Case:177 unrelated relapsing and remitting multiple sclerosis (MS) patients in Spanish and American:populations:US, Spain										
123097	N	spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	10	10q24.1	FAS	90740267	90765522		Lee, Y. H.  et al. 2001	11771526				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Clinical rheumatology. 2001 ;20(6):420-2	Polymorphsims of CTLA-4 exon 1 +49, CTLA-4 promoter -318 and Fas promoter -670 in spondyloarthropathies.		134637	21393	2	2001	We found no association between the polymorphisms of the CTLA-4 exon 1 +49, CTLA-4 promoter -318 and Fas promoter -670 genes and SpA. However, further studies are required to discover the possible contribution of the polymorphisms of the CTLA-4 and Fas to the pathogenesis of SpA.	Case:54 spondyloarthropathy patients;Control:87/84 bronchial asthma patients (n=87) and healthy:controls (n=84)										
123098		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	10	10q24.1	FAS	90740267	90765522		Ishikawa, K.  et al. 2005	15838728				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		134637	24410	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
123095	Y	thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia|Lupus Erythematosus, Systemic	10	10q24.1	FAS	90740267	90765522		Nolsoe, R. L.  et al. 2005	16163374			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		United States	CDC GDPinfo	355	Hs.244139			Genes and immunity. 2005 Dec;6(8):699-706	Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia.		134637	16636	2	2005	We conclude that  the FAS/FASL promoter haplotypes are functional and that polymorphisms in FAS may contribute to thrombocytopenia in SLE.											
123096		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Feuk, L.  et al. 2003	12497631				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Human mutation. 2003 Jan;21(1):53-60	Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.		134637	21391	2	2003	These results together with previous data suggest that a promoter marker in TNFRSF6 plays a moderate but demonstrable role in AD etiology.	Case:121 early-onset dementia cases;Control:152:controls										
123092	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q24.1	FAS	90740267	90765522		Vasilescu, A.  et al. 2004	15042330				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Immunogenetics. 2004 Apr;56(1):56-60	Genomic analysis of Fas and FasL genes and absence of correlation with disease progression in AIDS.		134637	16632	2	2004	We did not find any statistically significant association of Fas and FasL polymorphisms and haplotypes with AIDS progression.	Control:155 healthy controls of Caucasian origin;Case:212 HIV-1-seropositive patients presenting extreme disease phenotypes										
123093		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Relapsing-Remitting	10	10q24.1	FAS	90740267	90765522		Lucas, M.  et al. 2004	15218339			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Spanish		CDC GDPinfo	355	Hs.244139			European neurology. 2004 ;52(1):7-Dec	A study of promoter and intronic markers of ApoI/Fas gene and the interaction with Fas ligand in relapsing multiple sclerosis.		134637	16633	2	2004	In conclusion, our findings suggest a weak association between the intronic marker Fas-MaeI and MS and a relative interaction with Fas ligand in an MS cohort of South Spanish extraction.	Control:215 healthy individuals;Case:312 relapsing multiple sclerosis patients of Spanish:extraction:Spain										
123090		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522			16313826				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Zhonghua yi xue za zhi. 2005 Aug;85(30):2132-5	[Genetic polymorphisms of apoptosis-associated genes FAS and FASL and risk of colorectal cancer.]		134637	10571	2	2005	 These findings suggest that the FAS-1377G/A and FASL-844T/C polymorphisms may be genetic susceptibility factors for colorectal cancer among Chinese population.											
123091		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	FAS	90740267	90765522		Feuk, L.  et al. 2000	11129341				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Human genetics. 2000 Oct;107(4):391-6	apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease:finding of a positive association for a polymorphism in the TNFRSF6 gene.		134637	16630	2	2000	These results imply that TNFRSF6, in interaction with APOE4, is a genetic risk factor for sporadic EOAD. Hence, the AD risk contributed by APOE4 could be mechanistically related to a pathway in common with FAS-mediated apoptosis.	Control:152 not otherwise specified in abstract;Case:165 combined cases from two sample sets above:Scotland;Control:358 controls not otherwise specified in abstract;Control:510 combined controls from two sample sets above;Case:78 early onset Alzheimer's disease patients:Scotland;Case:87 early onset Alzheimer's disease patients:Scotland										
123087		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Lai, H. C.  et al. 2005	15996722				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Gynecologic oncology. 2005 Oct;99(1):113-8	Genetic polymorphisms of FAS and FASL (CD95/CD95L) genes in cervical carcinogenesis: An analysis ofhaplotype and gene-gene interaction.		134637	10568	2	2005	 The FAS -1377A/-670A haplotype in combination with FASL -844C is associated with cervical carcinogenesis.											
123088		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		McIlroy, D.  et al. 2005	16148554			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			European journal of gastroenterology & hepatology. 2005 Oct;17(10):1081-8	FAS promoter polymorphisms correlate with activity grade in hepatitis C patients.		134637	10569	2	2005	 Genetic polymorphism in the FAS gene may account for some of the histopathological variability in chronic hepatitis C.											
123084	Y	cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Ueda, M.  et al. 2005	15894356	A670G		promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Japanese		CDC GDPinfo	355	Hs.244139			Gynecologic oncology. 2005 Jul;98(1):129-33	Fas gene promoter -670 polymorphism (A/G) is associated with cervical carcinogenesis.		134637	10565	2	2005	 Fas gene promoter -670 polymorphism (A/G) may be closely associated with cervical carcinogenesis in a Japanese population.	Control:controls;Case:49/167 high-grade (n=49) and low-greade (n=167) squamous intraepithelial lesion cases										
123085	Y	cirrhosis, biliary primary; hepatitis type 1, autoimmune (AIH-1)	UNKNOWN	UNK	Hepatitis, Autoimmune|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Hiraide, A.  et al. 2005	15929764				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			The American journal of gastroenterology. 2005 Jun;100(6):1322-9	Fas polymorphisms influence susceptibility to autoimmune hepatitis.		134637	10566	2	2005	 These results indicate a genetic link of Fas polymorphisms to the development of AIH. Further studies are needed to determine the genetic factors contributing to the development of AIH.	Control:132 ethnically matched controls;Case:74/98 Japanese patients with autoimmune hepatitis (n=74) and primary biliary cirrhosis (n=98)										
123082		preeclampsia; intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Pre-Eclampsia	10	10q24.1	FAS	90740267	90765522		Sziller, I.  et al. 2005	15695771	A670G			Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		Hungary	CDC GDPinfo	355	Hs.244139			Molecular human reproduction. 2005 Mar;11(3):207-10	An A > G polymorphism at position -670 in the Fas (TNFRSF6) gene in pregnant women with pre-eclampsia and intrauterine growth restriction.		134637	10563	2	2005	Carriage of the TNFRSF6-670 polymorphism in the neonate was not associated with pre-eclampsia or IUGR. Maternal possession of the TNFRSF6-670*G increases the risk for pre-eclampsia and pre-eclampsia-associated IUGR in women who deliver at <37 weeks.	Case:38 Hungarian pregnant women with pre-eclampsia;Control:89 normotensive controls	blood pressure									
123083		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Fernandez, R. M.  et al. 2005	15806311			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			International journal of molecular medicine. 2005 May;15(5):865-9	Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.		134637	10564	2	2005	Our results show that the differences in the distribution of the polymorphic variants were not statistically significant when the group of patients was compared to the other groups. Thus, it seems to indicate that the variants here analysed are not involved in the pathogenesis of the disease in our population. However this does not let us to completely exclude such genes as potential candidates for the disease. A complete genetic analysis of the genes involved in the intricate regulatory system of the apoptosis may lead to the identification of susceptibility factors for the disease and a better understanding of its etiology.	Case women with endometriosis;Control women without symptoms of endometriosis and confirmed unaffected women										
123080	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	10	10q24.1	FAS	90740267	90765522		Xia, B.  et al. 2005	15637757	A670G			Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Chinese		CDC GDPinfo	355	Hs.244139			World journal of gastroenterology. 2005 Jan;11(3):415-7	Association of Fas-670 gene polymorphism with inflammatory bowel disease in Chinese patients		134637	10561	2	2005	 Fas-670 polymorphism is not associated with IBD in Chinese patients.	Control:124 healthy controls;Case:50 unrelated Chinese patients with IBD (38 patients with ulcerative colitis and 12 with Crohn's:disease)										
123081	Y	preterm delivery	REPRODUCTION	REP	Fetal Membranes, Premature Rupture	10	10q24.1	FAS	90740267	90765522		Kalish, R. B.  et al. 2005	15672026	A670G		promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		New York City	CDC GDPinfo	355	Hs.244139			American journal of obstetrics and gynecology. 2005 Jan;192(1):208-12	A single nucleotide A>G polymorphism at position -670 in the Fas gene promoter: relationship topreterm premature rupture of fetal membranes in multifetal pregnancies.		134637	10562	2	2005	 A genetic variant in the Fas gene is associated with an increased rate of PPROM in multifetal pregnancies.	Case:33 mother-infant sets with pregnancies having preterm premature rupture of membranes;Control:77 mother-infant sets with no spontaneous preterm:birth										
123078	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Disease Progression	10	10q24.1	FAS	90740267	90765522		Sun, T.  et al. 2004	15240787				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		China	CDC GDPinfo	355	Hs.244139			Journal of the National Cancer Institute. 2004 Jul;96(13):1030-6	Polymorphisms of death pathway genes FAS and FASL in esophageal squamous-cell carcinoma.		134637	10559	2	2004	 Genetic polymorphisms in the death pathway genes FAS and FASL appear to be associated with an increased risk of developing esophageal squamous-cell carcinoma.	Case:588 esophageal squamous-cell carcinoma;Control:648 control subjects	smoking (tobacco)	FAS	1377G/A	FASL	844T/C			Y	tobacco smoking	esophageal squamous-cell carcinoma
123079	N	cervical cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Disease Progression	10	10q24.1	FAS	90740267	90765522		Dybikowska, A.  et al. 2004	15289903			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		Poland	CDC GDPinfo	355	Hs.244139			International journal of molecular medicine. 2004 Sep;14(3):475-8	Evaluation of Fas gene promoter polymorphism in cervical cancer patients.		134637	10560	2	2004	Our results do not confirm the hypothesis that AA genotype in Fas gene promoter may be engaged in the development of cervical neoplasia.	Case cervical cancer patients:Poland;Control:controls										
123075	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	10	10q24.1	FAS	90740267	90765522		Kantarci, O. H.  et al. 2004	14698859				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Journal of neuroimmunology. 2004 Jan;146(2-Jan):162-70	CD95 polymorphisms are associated with susceptibility to MS in women. A population-based study of CD95 and CD95L in MS		134637	10556	2	2004	Our results agree with the previously published studies and highlight that the association of the polymorphisms is restricted to women with MS. We did not find an association between CD95L and susceptibility to MS nor CD95 or CD95L and age of onset, disease course and disease severity.	Case:221 multiple sclerosis patients representing 79% ascertainment in Olmsted County, MN Olmsted County, MN;Control:442 gender-, age- and ethnicity-matched controls										
123076		kidney transplant complications	IMMUNE	IMM	Kidney Failure, Chronic	10	10q24.1	FAS	90740267	90765522		Cappellesso, S.  et al. 2004	14736971				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Nephrology, dialysis, transplantation. 2004 Feb;19(2):439-43	Association of donor TNFRSF6 (FAS) gene polymorphism with acute rejection in renal transplant patients: a case-control study		134637	10557	2	2004	 This study suggests that donor TNFRSF6 polymorphism directly or indirectly influences acute kidney rejection episodes.	Case:35 non-hyperimmunized adult patients who had received cadaveric kidney transplants and experienced acute rejection in the first 6 months after renal:transplantation;Control:70 non-acute rejection patients matched for age and number of HLA-DR mismatches										
123073	Y	lung cancer	CANCER	CAN	Lung Neoplasms	10	10q24.1	FAS	90740267	90765522		Wang, L. E.  et al. 2003	14512182	A670G			Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Lung cancer (Amsterdam, Netherlands). 2003 Oct;42(1):8-Jan	Fas A670G polymorphism, apoptotic capacity in lymphocyte cultures, and risk of lung cancer.		134637	10554	2	2003	These data suggest that alteration in the apoptotic pathway may be a risk factor for lung cancer and this risk may be modulated by the Fas -A670G polymorphism. Larger prospective studies are needed to verify these findings.	Case:68 lung cancer patients;Control:74 cancer-free controls										
123074	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	10	10q24.1	FAS	90740267	90765522		Mullighan, C. G.  et al. 2004	14672901			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Annals of the rheumatic diseases. 2004 Jan;63(1):98-101	Fas gene promoter polymorphisms in primary Sjogren's syndrome.		134637	10555	2	2004	 This study does not confirm an earlier report of an association between pSS and the Fas promoter -670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.	Case:101 paitnets with primary Sjogren's syndrome;Control:108 Caucasian contorls										
123071		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Niino, M.  et al. 2002	12188927			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Japanese	Japan	CDC GDPinfo	355	Hs.244139			BMC neurology [electronic resource]. 2002 Aug;2:8	An examination of the Apo-1/Fas promoter Mva I polymorphism in Japanese patients with multiple sclerosis		134637	10552	2	2002	 Overall, our findings suggest that Apo-1/Fas promoter gene polymorphisms are not conclusively related to susceptibility to MS or the clinical characteristics of Japanese patients with MS.	Case:114 Japanese patients with conventional MS;Control:121 healthy controls										
123072	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Sibley, K.  et al. 2003	12907599			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Cancer research. 2003 Aug;63(15):4327-30	Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia.		134637	10553	2	2003	These data suggest that variation in the FAS gene promoter may affect FAS gene expression and modulate apoptotic signaling, contributing to an increased risk of AML.	Case adult acute myeloid leukemia patients;Control:controls										
123069	N	longevity	AGING	AGE		10	10q24.1	FAS	90740267	90765522		Pinti, M.  et al. 2002	11965496				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Cell death and differentiation. 2002 Apr;9(4):431-8	Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies oncentenarians.		134637	10550	2	2002	On the whole, our data suggest that Fas and FasL polymorphisms, as well as their haplotypes, are unlikely to be associated with successful human longevity.	Case:50:centenarians Northern Italy;Control:86 young donors										
123070	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Kanemitsu, S.  et al. 2002	12064832			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		Japan	CDC GDPinfo	355	Hs.244139			The Journal of rheumatology. 2002 Jun;29(6):1183-8	A functional polymorphism in fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus.		134637	10551	2	2002	 Fas promoter -670A/G polymorphism was significantly associated with SLE, suggesting a possibility that Fas promoter contributes, at least in part, to the pathogenesis of SLE.	Case:109 systemic lupus erythematosus patients;Control:140:controls										
123066	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Kanemitsu S et al. 2002	12064832			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209361		Japan	KGB	355	Hs.244139			The Journal of rheumatology. 2002 Jun;29(6):1183-8	A functional polymorphism in fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus.		134637	856	1	2002	 Fas promoter -670A/G polymorphism was significantly associated with SLE, suggesting a possibility that Fas promoter contributes, at least in part, to the pathogenesis of SLE.											
123068	Y	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Lee, Y. H.  et al. 2001	11550967	A670G		promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			The Journal of rheumatology. 2001 Sep;28(9):2008-11	Fas promoter -670 polymorphism is associated with development of anti-RNP antibodies in systemic lupus erythematosus.		134637	10549	2	2001	 Our data suggest that the Fas promoter -670 polymorphism is associated with development of anti-RNP antibodies in SLE.	Case:87 patients with rheumatoid arthritis;Case:87 patients with systemic lupus erythematosus;Control:87 healthy controls										
123063	N	multiple sclerosis	IMMUNE	IMM	HIV Infections|Multiple Sclerosis|Lupus Erythematosus, Systemic	10	10q24.1	FAS	90740267	90765522	n	Cascino I et al. 1998	9553736				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			KGB	355	Hs.244139			Disease markers. 1998 Feb;13(4):221-5	Fas gene polymorphisms are not associated with systemic lupus erythematosus multiple sclerosis and HIV infection.		134637	853	1	1998												
123064		extranodal disease	OTHER	OTH	Lymphoma, Non-Hodgkin|Paraneoplastic Syndromes|Sjogren's Syndrome|Autoimmune Diseases|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Gronbaek K et al. 1998	9787134				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			KGB	355	Hs.244139			Blood. 1998 Nov;92(9):3018-24	Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity.		134637	854	1	1998												
123065	N	Juvenile Idiopathic Arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522	n	Donn R 2002	11824955				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	UK		KGB	355	Hs.244139			The Journal of rheumatology. 2002 Jan;29(1):166-8			134637	855	1	2002	 The -670 polymorphism of Fas does not appear to be associated with susceptibility to JIA.	Case:342; Control:255										
123060		cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Ovarian Neoplasms|Fanconi Anemia|Bloom Syndrome|Genetic Predisposition to Disease	9	9q22.3	FANCC	96901156	97119812		Koren-Michowitz, M.  et al. 2005	15726604				Fanconi anemia, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000136.2	Jewish	Israel	CDC GDPinfo	2176	Hs.494529			American journal of hematology. 2005 Mar;78(3):203-6	Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in riskmodification for cancer development.		227645	25998	2	2005	Coinheritance of FA and/or BS mutations seems to be more prevalent among BRCA mutation carriers, but a larger study encompassing more women may help in clarifying this issue.	Cohort 100 Ashkenazi women with known BRCA1 and BRCA2 mutations 										
123061		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	9	9p13	FANCG	35063834	35070013		Zienolddiny, S.  et al. 2005	16195237				Fanconi anemia, complementation group G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004629.1			CDC GDPinfo	2189	Hs.591084			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		602956	27909	2	2005												
123062	N	Longevity	AGING	AGE		10	10q24.1	FAS	90740267	90765522		Pinti M 2002	11965496	CD95			Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Northern Italy		TJB	355	Hs.244139			Cell death and differentiation. 2002 Apr;9(4):431-8	Genetic polymorphisms of Fas (CD95) and FasL (CD178) in human longevity: studies oncentenarians.		134637	852	1	2002	On the whole, our data suggest that Fas and FasL polymorphisms, as well as their haplotypes, are unlikely to be associated with successful human longevity.	Case:50:centenarians Northern Italy;Control:86 young donors										
123056		Fanconi Anemia	HEMATOLOGICAL	HEM	Fanconi Anemia	16	16q24.3	FANCA	88331459	88410566			15917947				Fanconi anemia, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000135.2		Brazil	CDC GDPinfo	2175	Hs.567267			Brazilian journal of medical and biological research. 2005 May;38(5):669-73	Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation		607139	16628	2	2005												
123057	N	fanconi anemia	HEMATOLOGICAL	HEM	Fanconi Anemia|Congenital Abnormalities	9	9q22.3	FANCC	96901156	97119812	n	Futaki M et al. 2000	10666230	IVS4 + 4 A to T			Fanconi anemia, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000136.2	Japanese	Japan|Europe	KGB	2176	Hs.494529			Blood. 2000 Feb;95(4):1493-8	The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.		227645	2564	1	2000												
123058	Y	pancreatic cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Pancreatic Ductal|Carcinoma, Papillary|Pancreatic Neoplasms	9	9q22.3	FANCC	96901156	97119812		Couch, F. J.  et al. 2005	15695377				Fanconi anemia, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000136.2			CDC GDPinfo	2176	Hs.494529			Cancer research. 2005 Jan;65(2):383-6	Germ line Fanconi anemia complementation group C mutations and pancreatic cancer.		227645	16629	2	2005	Taken together these data support the assertion that inherited mutations in FANCC can predispose to pancreatic cancer.	Case:421 sequentially collected pancreatic cancer cases diagnosed at the Mayo Clinic;Control:658 control individuals										
123053	Y	body mass; insulin	NORMALVARIATION	NV	Insulin Resistance	8	8q21	FABP4	82553489	82558004		Damcott, C. M.  et al. 2004	15015141				Fatty acid binding protein 4, adipocyte	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001442.1		United States	CDC GDPinfo	2167	Hs.391561			Metabolism:  clinical and experimental. 2004 Mar;53(3):303-9	Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males.		600434	16627	2	2004	These findings provide evidence that FABP4 and PPARgamma work together to influence a biologic pathway affecting insulin sensitivity and body composition, illustrating the importance of investigating the joint effect of genes in determining susceptibility for complex disease.	Cohort 314 Hispanic and non-Hispanic white makes participating in the San Luis Valley Diabetes Study 										
123054		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q13.3	FADD	69726916	69731134		Eckenrode S 2004	10982176				Fas (TNFRSF6)-associated via death domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003824.2			Y Wang	8772	Hs.86131			Human genetics. 2000 Jan;106(1):14-8	Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses.		602457	6587	1	2004												
123055		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	16	16q24.3	FANCA	88331459	88410566		Thompson, E.  et al. 2005	15860134			promoter	Fanconi anemia, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000135.2			CDC GDPinfo	2175	Hs.567267			BMC cancer [electronic resource]. 2005 Apr;5(1):43	A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.		607139	10547	2	2005	 The allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.	Control:256 normal controls;Case:352/390 breast cancer (n=352) and ovarian cancer (n=390):patients										
123050		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	1	1p33-p32	FABP3	31610686	31618510		Stumvoll M 2002	11756320				Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004102.3			Y Wang	2170	Hs.584756	Complications		Diabetes. 2002 Jan;51(1):37-41	Association of the T-G polymorphism in adiponectin (exon 2) with obesity and insulin sensitivity: interaction with family history of type 2 diabetes.		134651	2563	1	2002												
123051		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p33-p32	FABP3	31610686	31618510		Doo Shin, H.  et al. 2003	12872269				Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004102.3			CDC GDPinfo	2170	Hs.584756			Human mutation. 2003 Aug;22(2):180	Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitus.		134651	10546	2	2003	By logistic and multiple regression analysis, one insertion/deletion polymorphism in the 3' end (c.634+483delT) of FABP3 appeared to be weakly associated with increased risk of type 2 diabetes (OR=1.78-1.94, P=0.03-0.04) and waist/hip ratio (WHR) (P=0.03).	Case subjects with type 2 diabetes;Control:controls										
123052	Y	insulin sensitivity and body composition	NORMALVARIATION	NV	Insulin Resistance	8	8q21	FABP4	82553489	82558004		Damcott CM 2004	15015141	FABP4-376			Fatty acid binding protein 4, adipocyte	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001442.1	Hispanic and non-Hispanic white males	United States	KGB	2167	Hs.391561			Metabolism:  clinical and experimental. 2004 Mar;53(3):303-9	Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males.		600434	2542	1	2004	These findings provide evidence that FABP4 and PPARgamma work together to influence a biologic pathway affecting insulin sensitivity and body composition, illustrating the importance of investigating the joint effect of genes in determining susceptibility for complex disease.	Cohort 314 Hispanic and non-Hispanic white makes participating in the San Luis Valley Diabetes Study										
123047		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Bertolini, S.  et al. 2004	15135251				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		134640	26862	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
123048		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Vincent, S.  et al. 2002	12691171				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		134640	26863	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
123049		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p33-p32	FABP3	31610686	31618510		Shin HD 2003	12872269				Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004102.3			Y Wang	2170	Hs.584756			Human mutation. 2003 Aug;22(2):180	Polymorphisms in fatty acid-binding protein-3 (FABP3) - putative association with type 2 diabetes mellitus.		134651	2562	1	2003	By logistic and multiple regression analysis, one insertion/deletion polymorphism in the 3' end (c.634+483delT) of FABP3 appeared to be weakly associated with increased risk of type 2 diabetes (OR=1.78-1.94, P=0.03-0.04) and waist/hip ratio (WHR) (P=0.03).	Case subjects with type 2 diabetes;Control:controls										
123044		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Pollex, R. L.  et al. 2005	16276364				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Canadian		CDC GDPinfo	2169	Hs.282265			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		134640	24408	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
123045		lipids	METABOLIC	MET	Cardiovascular Diseases	4	4q28-q31	FABP2	120457852	120462766		Pisciotta, L.  et al. 2003	14650352				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):202-10	Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.		134640	24409	2	2003	 Extended high-intensity PA in men aged over 40 years may modify their metabolic cardiovascular risk factors even in the presence of some unfavourable genotypes.	Case:100 men aged over 40 years who cycle 120-150 Km/week;Control:100 age-matched sedentary control	physical activity									
123046		triglycerides	METABOLIC	MET		4	4q28-q31	FABP2	120457852	120462766		Ribalta, J.  et al. 2005	15764642				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		134640	25997	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
123041		metabolic syndrome	METABOLIC	MET	Coronary Disease|Metabolic Syndrome X	4	4q28-q31	FABP2	120457852	120462766		Pollex, R. L.  et al. 2005	15869758				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Canadian		CDC GDPinfo	2169	Hs.282265			Atherosclerosis. 2006 Jan;184(1):121-9	Metabolic syndrome in aboriginal Canadians:Prevalence and genetic associations		134640	21387	2	2005	 The high MetS prevalence in Oji-Cree adults, especially women, is consistent with their high risk of T2DM and CHD. Functional polymorphisms in three candidate genes for plasma lipoproteins and blood pressure were associated with MetS in adult Oji-Cree. Furthermore, several female adolescents met the adult MetS criteria, suggesting that the genesis of MetS begins in youth, especially among aboriginal females.	Cohort 515/115 adult (>/=18 years old, n=515) and adolescent (<18 years old, n=115) Oji-Cree subjects 										
123042		lipid metabolism disorders; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Hyperlipidemias|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Guettier, J. M.  et al. 2004	15598690				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Indian	India	CDC GDPinfo	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2005 Mar;90(3):1705-11	Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein C-III genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population.		134640	21388	2	2004	The association of the polymorphisms with MS and dyslipidemia could contribute to the high CVD prevalence in this population.	Case:110 Asian Indian diabetes cases from the Chennai Urban Population Study South India;Control:70:controls										
123043		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Horibe, H.  et al. 2004	15135268				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Atherosclerosis. 2004 May;174(1):181-7	Genetic risk for restenosis after coronary balloon angioplasty.		134640	21389	2	2004	Genotyping of these polymorphisms may prove informative for assessment of genetic risk for restenosis after POBA.	Cohort 730 individuals (424 men, 306 women) who underwent successful plain old balloon angioplasty in at least one major coronary artery and were examined angiographically 6 months after the procedure 										
123038		lipids; glucose; C-peptide	METABOLIC	MET		4	4q28-q31	FABP2	120457852	120462766		Dworatzek, P. D.  et al. 2004	15159243				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			The American journal of clinical nutrition. 2004 Jun;79(6):1110-7	Postprandial lipemia in subjects with the threonine 54 variant of the fatty acid-binding protein 2 gene is dependent on the type of fat ingested		134640	16624	2	2004	 The A54T polymorphism results in a diet-gene interaction: the T54 group had increased chylomicron cholesterol after olive oil only. Nevertheless, the greater hepatic insulin clearance in T54 carriers suggests that the polymorphism may not be deleterious in nonobese subjects.	Cohort 22 healthy nonobese individuals (11 homozygotes and 11 T54 carriers) 	diet fat									
123039		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Cerebrovascular Accident|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Wanby, P.  et al. 2005	16013194				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Vascular medicine (London, England). 2005 May;10(2):103-8	Genetic variation of the intestinal fatty acid-binding protein 2 gene in carotid atherosclerosis.		134640	16626	2	2005												
123035		body mass; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Weiss, E. P.  et al. 2002	12209017				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Physiological genomics. 2002 Sep;10(3):145-57	Fatty acid binding protein-2 gene variants and insulin resistance: gene and gene-environmentinteraction effects		134640	16621	2	2002	Review article											
123036	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Kunsan, X.  et al. 1999	12899384	Ala54Thr			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Chinese medical sciences journal. 1999 Mar;14(1):46-51	The association of Ala54Thr variant of intestinal fatty acid binding protein gene with general and regional adipose tissue depots.		134640	16622	2	1999	 FABP2 is associated with regional adipose tissue depot. The decreased femoral subcutaneous adipose tissue depot in NIDDM subjects is related to FABP2-Thr54 variant.	Cohort 165 subjects (86 were normal glucose tolerant and 79 were non-insulin-dependent diabetics) 										
123037		diabetes, type 1	IMMUNE	IMM		4	4q28-q31	FABP2	120457852	120462766		Formanack, M. L.  et al. 2003	14666368			promoter	Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Caucasian		CDC GDPinfo	2169	Hs.282265			Diabetologia. 2004 Feb;47(2):349-51	Variation in the FABP2 promoter affects gene expression: implications for prior associationstudies.		134640	16623	2	2003	Two functional variations exist in FABP2-the coding Ala54Thr and the variant promoter. In the Pima Indian population, but not the Caucasian population, these two functional variants are always carried on the same allele. Therefore, some of the in vivo phenotypic associations previously attributed to the Ala54Thr substitution, which alters binding characteristics of the protein, could instead be due to promoter variation, which alters expression levels.	Cohort 20 Pima Indians 										
123032	Y	insulin sensitivity	METABOLIC	MET	Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Brown, M. D.  et al. 2001	11555846				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Metabolism:  clinical and experimental. 2001 Sep;50(9):1102-5	FABP2 genotype is associated with insulin sensitivity in older women.		134640	16618	2	2001	It was concluded that FABP2 genotype influences insulin sensitivity independent of body composition, habitual physical activity levels, and HRT status in postmenopausal white women	Case:23 athletic posmenopausal Caucasian women:Cohort:60 postmenopausal Caucasian women (18 sedentary, 19 physically active, 23 athletic)	hormone replacement therapy physical activity									
123033	Y	cholesterol, HDL; triglycerides; adiposity	METABOLIC	MET	Obesity	4	4q28-q31	FABP2	120457852	120462766		Berthier, M. T.  et al. 2001	11707533				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Obesity research. 2001 Nov;9(11):668-75	Effects of the FABP2 A54T mutation on triglyceride metabolism of viscerally obese men.		134640	16619	2	2001	The FABP2 A54T missense mutation may contribute to the TG enrichment of HDL in the postprandial state that, in turn, may alter the risk of atherosclerotic vascular disease.	Cohort 217 men 										
123034	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance|Metabolic Syndrome X	4	4q28-q31	FABP2	120457852	120462766		Erkkila, A. T.  et al. 2002	12189904				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Finnish	Finland	CDC GDPinfo	2169	Hs.282265			Nutrition, metabolism, and cardiovascular diseases. 2002 Apr;12(2):53-9	Variation in the fatty acid binding protein 2 gene is not associated with markers of metabolic syndrome in patients with coronary heart disease		134640	16620	2	2002	 The Ala54Thr polymorphism of the FABP2 gene is not associated with CHD, markers of the metabolic syndrome, or the fatty acid profile of serum lipids in Finnish CHD patients.	Cohort 414 coronary heart disease patients (mean age 61 years, range 33-74, EUROASPIRE Study) 										
123028	Y	insulin	METABOLIC	MET	Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Marin, C.  et al. 2005	16002819	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			The American journal of clinical nutrition. 2005 Jul;82(1):196-200	The Ala54Thr polymorphism of the fatty acid-binding protein 2 gene is associated with a change in insulin sensitivity after a change in the type of dietary fat.		134640	10543	2	2005	 Insulin sensitivity decreased in subjects with the Thr54 allele of the FABP2 polymorphism when SFAs were replaced by MUFAs and carbohydrates.		diet									
123030		cholesterol; triglycerides; cirrhosis, alcoholic; lipids	METABOLIC	MET		4	4q28-q31	FABP2	120457852	120462766		Salguero, M. L.  et al. 2005	16289894				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Hepatology research. 2005	The role of FABP2 gene polymorphism in alcoholic cirrhosis.		134640	10545	2	2005												
123031		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Che, D.  et al. 2002	15776585				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Senegalese		CDC GDPinfo	2169	Hs.282265			Dakar Med. 2002 ;47(1):18-21	[Genetic polymorphism of pyruvate dehydrogenase kinase 4 (PDK4), paraoxonase 2 (PON2), and fatty acid binding protein 2 (FABP2) in the NIDDM population of Senegal]		134640	13079	2	2002	These results suggest that none of these gene variants is a major NIDDM predisposing locus for the negroid population of Senegal.	Case black subjects with non-insulin dependent diabetes:mellitus:Dakar, Senegal;Control subjects without diabetes										
123025	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	4	4q28-q31	FABP2	120457852	120462766		Wanby, P.  et al. 2004	15527447				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Acta neurologica Scandinavica. 2004 Dec;110(6):355-60	The FABP2 gene polymorphism in cerebrovascular disease.		134640	10540	2	2004	 Our findings suggest an involvement of the FABP2 (A54T) gene polymorphism in the pathogenesis of CVD. The FABP2 T54 allele appears to be a genetic susceptibility marker for TIA and non-cardioembolic infarction at younger onset.	Control:158 control subjects;Case:407 patients diagnosed with acute cerebrovascular:disease										
123026	Y	body fat	METABOLIC	MET		4	4q28-q31	FABP2	120457852	120462766		Lara-Castro, C.  et al. 2004	15572430	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	African American		CDC GDPinfo	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1196-201	Association of the intestinal fatty acid-binding protein Ala54Thr polymorphism and abdominal adipose tissue in African-American and Caucasian women.		134640	10541	2	2004	We conclude that  women carriers of the FABP2 Thr allele have lower TAT and SAAT than noncarriers of the mutation. This association is present in Caucasian, but not in African-American, women.	Cohort 223 premenopausal African-American (n = 103), and Caucasian (n = 120) women 										
123027	Y	obesity	METABOLIC	MET	Obesity|Body Weight	4	4q28-q31	FABP2	120457852	120462766		Takakura, Y.  et al. 2005	15620432	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese		CDC GDPinfo	2169	Hs.282265			Diabetes research and clinical practice. 2005 Jan;67(1):36-42	Thr54 allele of the FABP2 gene affects resting metabolic rate and visceral obesity		134640	10542	2	2005	In conclusion, Thr54 allele of FABP2 has associations with lower adjusted resting metabolic rate, resistance in reducing visceral white adipose tissue (WAT) and early onset of obesity in Japanese obese women.	Control:controls;Case:80 Japanese obese women										
123022	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Duarte, N. L.  et al. 2003	12855223	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Tonga	CDC GDPinfo	2169	Hs.282265			Molecular genetics and metabolism. 2003 Jul;79(3):183-8	Obesity, Type II diabetes and the Ala54Thr polymorphism of fatty acid binding protein 2 in the Tongan population.		134640	10537	2	2003	We conclude that  there is a high prevalence of the FABP2 Ala54Thr polymorphism in Tongans. The polymorphism may be involved in lipid metabolism as the Thr allele is associated with low total and LDL cholesterol levels in this population.	Cohort 1,022 Tongan subjects, 433 men and 589 women aged 15-85 years 										
123023	Y	cholesterol; triglycerides; diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Nakanishi, S.  et al. 2004	14686962				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	CDC GDPinfo	2169	Hs.282265			Diabetes, obesity & metabolism. 2004 Jan;6(1):45-9	The effect of polymorphism in the intestinal fatty acid-binding protein 2 gene on fat metabolism is associated with gender and obesity amongst non-diabetic Japanese-Americans.		134640	10538	2	2004	 These results therefore suggested that the effects of the FABP2 polymorphism on TG, LDL-C and body mass index were associated with gender difference and obesity amongst non-diabetic Japanese-American subjects.	Cohort Japanese-Americans (123 men and 126 women) who were diagnosed as non-diabetic by a 75 g oral glucose tolerance test at the baseline 										
123019	N	obesity; dyslipidemia	METABOLIC	MET	Hyperlipidemias|Obesity	4	4q28-q31	FABP2	120457852	120462766		Endo, K.  et al. 2001	11866034	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	CDC GDPinfo	2169	Hs.282265			Journal of atherosclerosis and thrombosis. 2001 ;8(3):80-3	No association found between the Ala54Thr polymorphism of FABP2 gene and obesity and obesity with dyslipidemia in Japanese schoolchildren.		134640	10534	2	2001	Our data suggested that Ala54Thr polymorphism of the FABP2 gene is not a major contributing factor for obesity and obesity with dyslipidemia in Japanese children.	Case:370 children with morbid obesity;Control:463 control children of normal weight										
123020		triglycerides; diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Geschonke, K.  et al. 2002	12079887			promoter	Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Annals of the New York Academy of Sciences. 2002 Jun;967:548-53	Detection of a Promoter Polymorphism in the Gene of Intestinal Fatty Acid Binding Protein (I-FABP)		134640	10535	2	2002	In conclusion, we suggest that I-FABP does play a major role in dietary fatty acid uptake. We speculate that this protein is not responsible for transporting the fatty acids from the intestine epithelium to the blood. I-FABP is more likely a fatty acid storage protein in the intestine epithelial cell. Therefore, a larger amount of I-FABP protein might protect from fast high postprandial triglyceride levels that are supposed to contribute to the metabolic syndrome.	Case:45 type 2 diabetic patients;Control:55 unaffected subjects										
123021	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertriglyceridemia	4	4q28-q31	FABP2	120457852	120462766		Georgopoulos, A.  et al. 2002	12161503	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):3735-9	Unlike type 2 diabetes, type 1 does not interact with the codon 54 polymorphism of the fatty acid binding protein 2 gene.		134640	10536	2	2002	In conclusion, in contrast to type 2, type 1 diabetes does not interact with the codon 54 polymorphism of the fatty acid binding protein 2 gene to cause hypertriglyceridemia/dyslipidemia. Insulin resistance could account possibly for this difference.	Cohort 181 type 1 diabetics with similar glycemic control as the type 2 patients 										
123016	Y	insulin resistance	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Chiu, K. C.  et al. 2001	11299043	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			BMC genetics [electronic resource]. 2001 ;2:7	The A54T polymorphism at the intestinal fatty acid binding protein 2 is associated with insulin resistance in glucose tolerant Caucasians.		134640	10530	2	2001	 The A54T polymorphism at the FABP2 locus is a risk factor for insulin resistance in a Caucasian population.	Cohort 55 healthy and normotensive Caucasian subjects with normal glucose tolerance 										
123017	Y	body mass; diabetes, type 2; insulin; glucose; HbA(1c)	METABOLIC	MET	Cardiovascular Diseases|Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Galluzzi, J. R.  et al. 2001	11423496	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Massachusetts	CDC GDPinfo	2169	Hs.282265			Diabetes care. 2001 Jul;24(7):1161-6	Association of the Ala54-Thr polymorphism in the intestinal fatty acid-binding protein with 2-h postchallenge insulin levels in the Framingham Offspring Study.		134640	10531	2	2001	 These results suggest that the FABP2 Thr54 allele may have a minor contribution to the insulin resistance syndrome in a white general population.	Cohort 1648 Subjects who were participants in the Framingham Offspring Study, a long-term community-based prospective observational study of risk factors for cardiovascular disease (762 men and 922 women) 	alcohol beta blockers estrogen menopause smoking (tobacco)									
123018		cholesterol, HDL; cholesterol, LDL; cholesterol, VLDL	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Galluzzi, J. R.  et al. 2001	11730822	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Atherosclerosis. 2001 Dec;159(2):417-24	Association of the A/T54 polymorphism in the intestinal fatty acid binding protein with variations in plasma lipids in the Framingham Offspring Study.		134640	10533	2	2001	Our data are consistent with the T54 IFABP increasing the flux of lipids through the enterocyte leading to an increase in chylomicron secretion.	Cohort 1930 participants, a representative sample of the Framingham Offspring Study 	alcohol beta blockers estrogen smoking (tobacco)									
123013		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Daimon M 2003	12646233				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	Y Wang	2169	Hs.282265			Biochemical and biophysical research communications. 2003 Mar;302(4):751-8	Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.		134640	2560	1	2003												
123014		obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Nakanishi S 2004	14686962				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	KGB	2169	Hs.282265			Diabetes, obesity & metabolism. 2004 Jan;6(1):45-9	The effect of polymorphism in the intestinal fatty acid-binding protein 2 gene on fat metabolism is associated with gender and obesity amongst non-diabetic Japanese-Americans.		134640	2561	1	2004	 These results therefore suggested that the effects of the FABP2 polymorphism on TG, LDL-C and body mass index were associated with gender difference and obesity amongst non-diabetic Japanese-American subjects.	Cohort Japanese-Americans (123 men and 126 women) who were diagnosed as non-diabetic by a 75 g oral glucose tolerance test at the baseline										
123015	Y	hyperinsulinemia; fat oxidation; intestinal fatty acid absorption	METABOLIC	MET	Hyperinsulinism	4	4q28-q31	FABP2	120457852	120462766		Kim, C. H.  et al. 2001	11288045	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Korean	Korea	CDC GDPinfo	2169	Hs.282265			Metabolism:  clinical and experimental. 2001 Apr;50(4):473-6	Codon 54 polymorphism of the fatty acid binding protein 2 gene is associated with increased fat oxidation and hyperinsulinemia, but not with intestinal fatty acid absorption in Korean men		134640	10529	2	2001	These results suggest that the Ala54Thr substitution in the FABP2 gene is associated with increased fat oxidation and hyperinsulinemia in normal Korean men, but these effects are not mediated by an increase in the intestinal fatty acid absorption.	Cohort 96 healthy young men Korea 										
123009	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766	n	Hirashiki A 2003	14563588	2445G3A (Ala54Thr)			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	KGB	2169	Hs.282265			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		134640	2556	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
123010	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Yoshioka K 2003	14605999				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	Y Wang	2169	Hs.282265	diabetic retinopathy		Horm Metab Res. 2003 Oct;35(10):625-7	Fatty acid binding protein gene 2 polymorphism is not associated with diabetic retinopathy in Japanese type 2 diabetic patients.		134640	2557	1	2003												
123011		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Boullu-Sanchis S 1999	10443326				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Indian population of Guadeloupe	Guadeloupe	Y Wang	2169	Hs.282265			Diabetes & metabolism. 1999 Jun;25(2):150-6	Type 2 diabetes mellitus: association study of five candidate genes in an Indian population of Guadeloupe, genetic contribution of FABP2 polymorphism.		134640	2558	1	1999												
123006	Y	increased fat oxidation and hyperinsulinemia	METABOLIC	MET	Hyperinsulinism	4	4q28-q31	FABP2	120457852	120462766		Kim CH et al. 2001	11288045				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Korean	Korea	KGB	2169	Hs.282265			Metabolism:  clinical and experimental. 2001 Apr;50(4):473-6	Codon 54 polymorphism of the fatty acid binding protein 2 gene is associated with increased fat oxidation and hyperinsulinemia but not with intestinal fatty acid absorption in Korean men.		134640	2553	1	2001	These results suggest that the Ala54Thr substitution in the FABP2 gene is associated with increased fat oxidation and hyperinsulinemia in normal Korean men, but these effects are not mediated by an increase in the intestinal fatty acid absorption.	Cohort 96 healthy young men Korea										
123007	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Georgopoulos A et al. 2000	10999802				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			KGB	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2000 Sep;85(9):3155-60	Codon-54 polymorphism of the fatty acid-binding protein 2 gene is associated with elevation of fasting and postprandial triglyceride in type 2 diabetes.		134640	2554	1	2000												
123008	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Hypertriglyceridemia	4	4q28-q31	FABP2	120457852	120462766	n	Georgopoulos A et al. 2002	12161503				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			Y Wang	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):3735-9	Unlike type 2 diabetes, type 1 does not interact with the codon 54 polymorphismof the fatty acid binding protein 2 gene.		134640	2555	1	2002	In conclusion, in contrast to type 2, type 1 diabetes does not interact with the codon 54 polymorphism of the fatty acid binding protein 2 gene to cause hypertriglyceridemia/dyslipidemia. Insulin resistance could account possibly for this difference.	Cohort 181 type 1 diabetics with similar glycemic control as the type 2 patients										
123003	Y	plasma lipoproteins	METABOLIC	MET		4	4q28-q31	FABP2	120457852	120462766		Hegele RA et al. 1997	9373766				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			KGB	2169	Hs.282265			European journal of clinical investigation. 1997 Oct;27(10):857-62	Intestinal fatty acid-binding protein variation associated with variation in the response of plasma lipoproteins to dietary fibre.		134640	2550	1	1997												
123004	Y	father-child incompatibility of Gc	OTHER	OTH	Chromosome Deletion	4	4q28-q31	FABP2	120457852	120462766		Yamamoto Y et al. 1989	2773996				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			KGB	2169	Hs.282265			American journal of medical genetics. 1989 Apr;32(4):520-3	Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.		134640	2551	1	1989												
123005	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance|Metabolic Syndrome X	4	4q28-q31	FABP2	120457852	120462766	n	Erkkila AT et al. 2002	12189904				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Finland	AE	2169	Hs.282265			Nutrition, metabolism, and cardiovascular diseases. 2002 Apr;12(2):53-9	Variation in the fatty acid binding protein 2 gene is not associated with markers of metabolic syndrome in patients with coronary heart disease.		134640	2552	1	2002	 The Ala54Thr polymorphism of the FABP2 gene is not associated with CHD, markers of the metabolic syndrome, or the fatty acid profile of serum lipids in Finnish CHD patients.	Cohort 414 coronary heart disease patients (mean age 61 years, range 33-74, EUROASPIRE Study)										
122998	N	dyslipidemia	METABOLIC	MET	Hyperlipidemias|Obesity	4	4q28-q31	FABP2	120457852	120462766	n	Endo K et al. 2001	11866034				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	KGB	2169	Hs.282265			Journal of atherosclerosis and thrombosis. 2001 ;8(3):80-3	No association found between the Ala54Thr polymorphism of FABP2 gene and obesity and obesity with dyslipidemia in Japanese schoolchildren.		134640	2545	1	2001	Our data suggested that Ala54Thr polymorphism of the FABP2 gene is not a major contributing factor for obesity and obesity with dyslipidemia in Japanese children.	Case:370 children with morbid obesity;Control:463 control children of normal weight										
122999	N	coronary heart disease in nondiabetic subjects	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766	n	Saarinen L et al. 1998	9589253				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			KGB	2169	Hs.282265			Diabetes care. 1998 May;21(5):849-50	Variants of the fatty acid-binding protein 2 gene are not associated with coronary heart disease in nondiabetic subjects and in patients with NIDDM.		134640	2546	1	1998	 The variants of the FABP2 gene are not likely to contribute to the risk of CHD in Finnish nondiabetic and NIDDM subjects.											
123001	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Carlsson M et al. 2000	10946885	T 54 allele			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Sweden	KGB	2169	Hs.282265			The Journal of clinical endocrinology and metabolism. 2000 Aug;85(8):2801-4	The T 54 allele of the intestinal fatty acid-binding protein 2 is associated with a parental history of stroke.		134640	2548	1	2000												
122995		cholesterol; cholesterol, LDL; insulin; apoB	METABOLIC	MET	Insulin Resistance|Hypertriglyceridemia|Genetic Predisposition to Disease	2	2p11	FABP1	88203624	88208693		Stan, S.  et al. 2004	15547295				Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1	Canadian	Canada	CDC GDPinfo	2168	Hs.380135			Journal of lipid research. 2005 Feb;46(2):320-7	Intestinal fatty acid binding protein and microsomal triglyceride transfer protein polymorphisms in French-Canadian youth.		134650	10528	2	2004	Our study suggests that the effects of allelic variations of FABP2 on lipid traits are context dependent, indicating that this variant may play an important role in the pathogenesis of cardiovascular disease in presence of IRS or hypertriglyceridemia.	Cohort 1,742 French Canadians aged 9, 13 and 16 years who took part into the 1999 Quebec Child and Adolescent Health and Social Survey 										
122996	Y	lipoprotein	METABOLIC	MET	Hyperlipoproteinemias	2	2p11	FABP1	88203624	88208693		Brouillette, C.  et al. 2004	15249972				Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1			CDC GDPinfo	2168	Hs.380135			Journal of human genetics. 2004 ;49(8):424-32	Effect of liver fatty acid binding protein (FABP) T94A missense mutation on plasma lipoprotein responsiveness to treatment with fenofibrate.		134650	16617	2	2004	These results suggest that the LFABP T94A missense mutation could influence obesity indices as well as the risk to exhibit residual hypertriglyceridmia following a lipid-lowering therapy with fenofibrate.	Cohort 130 French Canadian subjects treated with fenofibrate 	fenofibrate									
122997	N	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance|Obesity	4	4q28-q31	FABP2	120457852	120462766	n	Hayakawa T et al. 1999	10337870				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	KGB	2169	Hs.282265			Metabolism:  clinical and experimental. 1999 May;48(5):655-7	Variation of the fatty acid binding protein 2 gene is not associated with obesity and insulin resistance in Japanese subjects.		134640	2544	1	1999												
122992	Y	obesity	METABOLIC	MET	Obesity	1	1p35-p34	FAAH	46632578	46652104		Sipe, J. C.  et al. 2005	15809662				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1			CDC GDPinfo	2166	Hs.528334			International journal of obesity (2005). 2005 Jul;29(7):755-9	Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH).		602935	10526	2	2005	 These results suggest a role for the FAAH 385 A/A missense polymorphism as an endocannabinoid risk factor in overweight/obesity and may provide indirect evidence to support cannabinoid antagonist treatment strategies in overweight disorders.	Cohort 2,667 subjects of white, black and Asian ancestry 										
122993	Y	increased plasma triglyceride levels	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p11	FABP1	88203624	88208693		Meirhaeghe A et al. 2000	10807750			intron	Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1	French	France	KGB	2168	Hs.380135			Arteriosclerosis, thrombosis, and vascular biology. 2000 May;20(5):1330-4	Intronic polymorphism in the fatty acid transport protein 1 gene is associated with increased plasma triglyceride levels in a French population.		134650	2543	1	2000												
122994		lipoproteins	METABOLIC	MET	Metabolic Syndrome X	2	2p11	FABP1	88203624	88208693		Robitaille, J.  et al. 2004	15308127				Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1	Canadian	Canada|France	CDC GDPinfo	2168	Hs.380135			Molecular genetics and metabolism. 2004 Aug;82(4):296-303	Plasma concentrations of apolipoprotein B are modulated by a gene--diet interaction effect between the LFABP T94A polymorphism and dietary fat intake in French-Canadian men.		134650	10527	2	2004	In conclusion, T94/T94 exhibit higher apo B levels whereas carriers of the A94 allele seem to be protected against high apo B levels when consuming a high fat and saturated fat diet. These findings reinforce the importance to take into account gene-diet interactions in the prevention and management of the metabolic syndrome.	Cohort 623 French-Canadian men recruited through the Chicoutimi Lipid Clinic 	fat									
122989		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq27.1-q27.2	F9	138440560	138473283		Shetty, S.  et al. 2001	11396323				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2			CDC GDPinfo	2158	Hs.522798			The National medical journal of India. 2001 Mar-Apr;14(2):81-3	Carrier detection and prenatal diagnosis in families with haemophilia.		306900	21385	2	2001	 Using the above polymorphic markers of factors VIII and IX genes, a diagnosis could be made in the majority of families.	Cohort 159 families with haemophilia A and B were analysed for carrier detection by DNA analysis, over the last 6 years 										
122990	Y	problem drug use	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	1	1p35-p34	FAAH	46632578	46652104	0.001	Sipe JC et al. 2002	12060782	cDNA 385 C->A	Reduced FAAH activity and expression of P129T variant	coding sequence	Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1	White ancestral origin		KGB	2166	Hs.528334			Proceedings of the National Academy of Sciences of the United States of America. 2002 Jun;99(12):8394-9	A missense mutation in human fatty acid amide hydrolase associated with problem drug use.		602935	2541	1	2002		Case:372; Control:1737										
122991	N	schizophrenia; methamphetamine dependence	PSYCH	PSY	Amphetamine-Related Disorders|Genetic Predisposition to Disease|Schizophrenia	1	1p35-p34	FAAH	46632578	46652104		Morita, Y.  et al. 2005	15721218				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1		Japan	CDC GDPinfo	2166	Hs.528334			Neuroscience letters. 2005 Mar;376(3):182-7	A nonsynonymous polymorphism in the human fatty acid amide hydrolase gene did not associate with either methamphetamine dependence or schizophrenia.		602935	10525	2	2005	Because the Pro129Thr polymorphism reduces enzyme instability, it is unlikely that dysfunction of FAAH and enhanced endocannabinoid system induce susceptibility to either methamphetamine dependence/psychosis or schizophrenia.	Control:controls;Case methamphetamine dependence/psychosis and schizophrenia cases										
122986		fibrinogen; thrombosis, venous	METABOLIC	MET		X	Xq27.1-q27.2	F9	138440560	138473283		Bi, Z. M.  et al. 2002	12513796				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Chinese		CDC GDPinfo	2158	Hs.522798			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2002 Jun;10(3):247-50	[Sal I, Nru I and Mse I restriction fragment length polymorphisms of factor IX gene in Chinese Han people]		306900	10523	2	2002	It was concluded that the SalIand NruI and MseI RFLPs of FIX gene may be useful markers for carrier detection and prenatal diagnosis in Chinese families with hemophilia B patients.	Cohort unrelated normal Chinese Han people 										
122987		hemophilia	HEMATOLOGICAL	HEM	Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Ghandil, P.  et al. 2004	15183040				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Iranian	Iran	CDC GDPinfo	2158	Hs.522798			Thrombosis research. 2004 ;113(5):289-93	Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population		306900	10524	2	2004	Therefore, carrier detection might be possible for informative Iranian haemophilia B families in the familial cases. Additionally, similarities in term of heterozygosity rates for these two polymorphic sites were seen between some European and Iranian populations.	Cohort 50/50 Iranian haemophilia B families (n=50) and normal females (n=50) Iran 										
122988		hemophilia	HEMATOLOGICAL	HEM	Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Belvini, D.  et al. 2005	15921378				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Italian		CDC GDPinfo	2158	Hs.522798			Haematologica. 2005 May;90(5):635-42	Molecular genotyping of the Italian cohort of patients with hemophilia B.		306900	16616	2	2005	 The data have been used to build the Italian mutation database to provide each family with knowledge of the disease-causing defect for genetic counseling. This Italian study confirms the marked heterogeneity of factor IX mutations in the population and the presence of a degree of genotype/phenotype discordance. The identification of the mutation can also be used to predict risk of inhibitor development.	Cohort 238 of 269 patients followed by 25 regional centers (153 with severe, 59 with moderate and 26 with mild hemophilia B) 										
122983		factor XI deficiency.	HEMATOLOGICAL	HEM	Factor XI Deficiency	X	Xq27.1-q27.2	F9	138440560	138473283		Tsukahara A 2003	12879434				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2			KGB	2158	Hs.522798			American journal of hematology. 2003 Aug;73(4):279-84	Compound heterozygosity for two novel mutations in a severe factor XI deficiency.		306900	2531	1	2003												
122984		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq27.1-q27.2	F9	138440560	138473283		Sasanakul, W.  et al. 2000	11122405				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Thai	Thailand	CDC GDPinfo	2158	Hs.522798			Haemophilia. 2000 Nov;6(6):715-6	Frequencies of five polymorphisms associated with the factor IX gene in the Thai population.		306900	10521	2	2000	Therefore, the suggested initial test for determining haemophilia B carriers in the Thai population includes Mse1, Sal1, or Nru1. If the results are not informative, then Dde1 and Hha1 polymorphisms should be perfomed.	Cohort 74 Thai subjects (27females, 31 males from 18 										
122985		hemophilia	HEMATOLOGICAL	HEM	Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Chowdhury, M. R.  et al. 2001	11754413				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Chinese	India	CDC GDPinfo	2158	Hs.522798			American journal of hematology. 2001 Dec;68(4):246-8	Factor IX gene polymorphisms in Indian population.		306900	10522	2	2001	A comparison of the heterozygosity rates of these three markers with the other ethnic groups showed that Indian population had almost similar pattern with the Caucasians and American blacks but differed significantly from the Orientals including Japanese, Chinese and Malays.	Cohort Indian population 										
122980	Y	factor VIII and factor IX genes	HEMATOLOGICAL	HEM	Hemophilia A|Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Goodeve AC et al. 1994	7910050				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Thai and Western European	Thailand|Europe	KGB	2158	Hs.522798			Blood coagulation & fibrinolysis. 1994 Feb;5(1):29-35	A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations.		306900	2528	1	1994												
122981	Y	Haemophilia	OTHER	OTH	Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Yang R et al. 1999	10583536				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Chinese	China	KGB	2158	Hs.522798			Haemophilia. 1999 Nov;5(6):453-5	Polymorphisms associated with the factor IX gene in Chinese people inverted question marklettere.		306900	2529	1	1999												
122982	Y	factor VIII and factor IX genes	HEMATOLOGICAL	HEM	Hemophilia A|Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Goodeve AC et al. 1994	7910050				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Thai and Western European	Thailand|Europe	KGB	2158	Hs.522798			Blood coagulation & fibrinolysis. 1994 Feb;5(1):29-35	A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations.		306900	2530	1	1994												
122977	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	X	Xq28	F8	153717257	153904192		Franco, R. F.  et al. 2000	11091190				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			British journal of haematology. 2000 Oct;111(1):118-21	Factor XIII Val34Leu and the risk of venous thromboembolism in factor V Leiden carriers.		306700	21384	2	2000	In conclusion, the impact of FXIII Val34Leu on the venous thromboembolic risk is modest, suggesting that screening for this mutation in factor V Leiden carriers is not justified.	Cohort 352 factor V Leiden carriers who were first-degree relatives of 132 thrombotic propositi 										
122978	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192			12615788				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		306700	25996	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
122979		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192		Adams, G. T.  et al. 2003	12871600				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		306700	27715	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
122974	Y	thromboembolism, venous	CARDIOVASCULAR	CARD		X	Xq28	F8	153717257	153904192		Tirado, I.  et al. 2005	15735796				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Thrombosis and haemostasis. 2005 Mar;93(3):468-74	The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism.		306700	21381	2	2005	In conclusion, high FVIII levels and non-O blood groups, likely those with the A(1) allele, are independent risk factors for venous thromboembolism and should be considered in evaluating of thrombophilia.	Control:250 unrelated controls;Case:250 patients with venous thrombosis										
122975		retinal vascular occlusive disease	OTHER	OTH	Retinal Vein Occlusion	X	Xq28	F8	153717257	153904192		Boyd, S.  et al. 2001	11673296				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			The British journal of ophthalmology. 2001 Nov;85(11):1313-5	Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion.		306700	21382	2	2001	 This study has not identified new risk factors for CRVO.	Case:63 consecutive patients with central retinal vein:occlusion;Control:63 age matched controls										
122976		thromboembolism, venous; protein C	CARDIOVASCULAR	CARD		X	Xq28	F8	153717257	153904192		Scanavini, D.  et al. 2005	15735794				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Thrombosis and haemostasis. 2005 Mar;93(3):453-6	The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.		306700	21383	2	2005	Our findings point toward the presence of genetic determinant of coagulation factor levels with a biologically significant role, but with a poor predictive value to estimate thrombotic risk beyond established risk factors.	Control:145 healthy women;Case:150 thrombotic women										
122971		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Jayandharan, G.  et al. 2005	16128892				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Haemophilia. 2005 Sep;11(5):481-91	Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis byinversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions.		306700	16614	2	2005												
122972		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Shetty, S.  et al. 2001	11396323				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			The National medical journal of India. 2001 Mar-Apr;14(2):81-3	Carrier detection and prenatal diagnosis in families with haemophilia.		306700	16615	2	2001	 Using the above polymorphic markers of factors VIII and IX genes, a diagnosis could be made in the majority of families.	Cohort 159 families with haemophilia A and B were analysed for carrier detection by DNA analysis, over the last 6 years 										
122973		fibrinogen; thrombosis, venous	METABOLIC	MET	Venous Thrombosis|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192		Austin, H.  et al. 2000	11027931				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	African American	United States	CDC GDPinfo	2157	Hs.632836			Journal of clinical epidemiology. 2000 Oct;53(10):997-1001	Venous thrombosis in relation to fibrinogen and factor VII genes among African-Americans.		306700	16684	2	2000	The study is limited by its small size. However, despite this limitation, it supports the belief that increased plasma fibrinogen levels are associated with increased venous thrombosis risk. The study also indicated that the HaeIII and the BclI polymorphisms of the beta fibrinogen gene and the MspI polymorphisms of the factor VII gene are not strong determinants of venous thrombosis.	Control:185 control subjects;Case:91 venous thrombosis cases										
122968	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Recurrence	X	Xq28	F8	153717257	153904192		Brummer, J.  et al. 2002	11848448				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Caucasian		CDC GDPinfo	2157	Hs.632836			Thrombosis and haemostasis. 2002 Jan;87(1):170	Absence of mutations at the APC interacting sites of factor VIII in Caucasians		306700	16611	2	2002	In conclusion, this analysis, together with the data of a study in 50 Afro-Americans (Hooper, et al, 1998), indicates that polymorphisms at the APC binding site of factor VIII may not play a major role in the pathogenesis of venous thrombosis.	Control:102 Caucasian individuals without a history of:thrombosis;Case:65 consecutive Caucasian patients with recurrent venous thrombosis										
122969		thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	X	Xq28	F8	153717257	153904192		Prayoonwiwat, W.  et al. 2001	12041568	Arg336 and Arg562			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Thai	Thailand	CDC GDPinfo	2157	Hs.632836			The Southeast Asian journal of tropical medicine and public health. 2001 Dec;32(4):880-3	Mutations at the activated protein C cleavage sites Arg336 and Arg562 of factor VIII in Thai patients with venous thrombosis.		306700	16612	2	2001	Neither heterozygous nor homozygous mutations were detected both thrombosis patients or normal volunteers. However, further studies with larger samples of venous thrombosis patients are recommended.	Control:100 Thai healthy volunteers;Case:81 Thai patients with venous thrombosis										
122970		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A|Inversion, Chromosome	X	Xq28	F8	153717257	153904192		Sawecka, J.  et al. 2005	16088320			intron	Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Polish	Poland	CDC GDPinfo	2157	Hs.632836			Archivum immunologiae et therapiae experimentalis. 2005 Jul-Aug;53(4):352-6	Prevalence of the intron 22 inversion of the factor VIII gene and inhibitor development in Polish patients with severe hemophilia A.		306700	16613	2	2005	 The prevalence of the intron 22 inversion mutation of the factor VIII gene in Polish hemophiliacs is similar to that in other European countries. Treatment regimens with either cryoprecipitate or virus-inactivated plasma-derived factor VIII concentrates may affect inhibitor formation in hemophilia A patients.											
122965	Y	hemophilia	HEMATOLOGICAL	HEM	Hemophilia A|Autoimmune Diseases|Inversion, Chromosome	X	Xq28	F8	153717257	153904192			16380445				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Blood. 2005	Polymorphisms in the IL-10 but not in the IL-1{beta} and IL-4 genes are associated with inhibitor development in patients with hemophilia A		306700	11656	2	2005												
122966		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Thrombophilia	X	Xq28	F8	153717257	153904192		Infante-Rivard, C.  et al. 2005	15824541				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Epidemiology (Cambridge, Mass). 2005 May;16(3):281-7	Thrombophilic polymorphisms and intrauterine growth restriction.		306700	13697	2	2005	 Overall, there seems to be little or no indication that thrombophilic genes, at least individually, have an effect on intrauterine growth restriction.	Control:472 controls (greater than the 10th percentile);Case:493 cases of intrauterine growth restriction (birthweight less than the 10th percentile for gestational age and sex)										
122967	Y	coronary heart disease; myocardial infarction; stroke; cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Ischemic Attack, Transient|Cerebral Hemorrhage|Coronary Disease|Myocardial Infarction|Arteriosclerosis|Thrombosis|Hypertension|Diabetes Mellitus|Hyperlipidemias|Disease Progression|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192		Gemmati, D.  et al. 2001	11391716	(VAL34Leu)			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			American journal of hematology. 2001 Jul;67(3):183-8	A common mutation in the gene for coagulation factor XIII-A (VAL34Leu): a risk factor for primaryintracerebral hemorrhage is protective against atherothrombotic diseases.		306700	16610	2	2001	This study indicates that in our population possession of the FXIII Val34Leu mutation predisposes to the occurrence of primary intracerebral hemorrhage and protects against cerebral and myocardial infarction. A wider modulatory role in the progression and onset of atherothrombotic diseases could be ascribed to FXIII Val34Leu.	Case patients diagnosed as having cerebrovascular diseases (cerebral infarction/transient ischaemic:attack, 120/120);Control patients admitted to the hospital without history of vascular disease as a matched control group;Case:130 patients diagnosed as having primary intracerebral:hemorrhage;Control:200 healthy subjects;Case:240 patients diagnosed as having coronary heart disease (myocardial infarction/no myocardial infarction,:120/120)										
122962		body mass; lipids	METABOLIC	MET		X	Xq28	F8	153717257	153904192		Tai, H.  et al. 2000	12578706	Intron 22 (CA)n		intron	Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Chinese		CDC GDPinfo	2157	Hs.632836			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2000 Jun;8(2):142-144	[Study on the Polymorphism of Intron 22 (CA)n Repeat within FVIII Gene in Dai, Yi and Han Populations of Yunnan Province]		306700	10518	2	2000	In conclusion, it was obvious that the locus cannot be acted as DNA genetic marker of FVIII gene in the three populations in Yunnan.	Cohort Dai, Yi and Han populations Yunnan Province 										
122963		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Chowdhury, M. R.  et al. 2003	12768323				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Indian	India	CDC GDPinfo	2157	Hs.632836			Annals of hematology. 2003 Jul;82(7):427-30	Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism-Indian experience		306700	10519	2	2003	Of the 41 CVS tested, 21 were found to be male fetuses and of these 13 were found likely to be affected with hemophilia A. Only in 12.2% of the families were none of the markers informative.	Cohort 41 chorionic villus samples from 41 families with a history of hemophilia A 										
122964		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Kim, J. W.  et al. 2005	15660987				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2		Korea	CDC GDPinfo	2157	Hs.632836			Haemophilia. 2005 Jan;11(1):38-42	Identification of new dinucleotide-repeat polymorphisms in factor VIII gene using fluorescent PCR.		306700	10520	2	2005	We observed five different alleles of Intron 1, 10 of Intron 24, nine of Intron 13 and six of Intron 22. The observed HR for Intron 1, 24, 13 and 22 were 34.0, 35.2, 53.0 and 42.6%, while the expected HR were 33.6, 36.3, 50.1 and 44.3%, respectively. Heterozygosity rate with the combined use of all four intragenic markers was 76.6% (383/500).	Cohort 500 unrelated healthy women 										
122959	N	migraine	NEUROLOGICAL	NEUR	Cerebrovascular Disorders|Migraine Disorders	X	Xq28	F8	153717257	153904192		Iniesta, J.  et al. 2001	11737010	Val34Leu			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Cephalalgia. 2001 Oct;21(8):837-41	Role of factor XIII Val 34 Leu polymorphism in patients with migraine		306700	10515	2	2001	These data suggest that the factor XIII Leu 34 allele does not play a protective role against these disorders in our population.	Case:106 patients with migraine (17 with coexisting ischemic:CVD) Southern Spain;Control:116 patients with ischemic CVD;Control:467 healthy Caucasian controls										
122960	Y	retinal artery occlusion	VISION	VIS	Retinal Artery Occlusion	X	Xq28	F8	153717257	153904192		Weger, M.  et al. 2001	11739969	Val34Leu			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			Stroke; a journal of cerebral circulation. 2001 Dec;32(12):2759-61	Role of factor XIII Val34Leu polymorphism in retinal artery occlusion.		306700	10516	2	2001	 Because prevalence of homozygous Leu genotype was significantly higher in controls, we conclude that the Leu/Leu genotype is associated with a protective effect against retinal artery occlusion.	Case:108 patients with retinal artery occlusion;Control:313 age- and sex-matched controls										
122961	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	X	Xq28	F8	153717257	153904192		Van Hylckama Vlieg, A.  et al. 2002	12358922	Val34Leu			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			British journal of haematology. 2002 Oct;119(1):169-75	Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis.		306700	10517	2	2002	In this study, a weak protective effect against venous thrombosis was found, of FXIII 34Leu as well as of increased FXIII activity.	Case patietns with deep venous thrombosis;Control:controls										
122956		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Chowdhury, M. R.  et al. 2000	11122386				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Indian	India	CDC GDPinfo	2157	Hs.632836			Haemophilia. 2000 Nov;6(6):625-30	Factor VIII gene polymorphisms in the Asian Indian population.		306700	10512	2	2000	Application of HindIII, BclI and the intron 22 dinucleotide repeat combined were diagnostic in 87.2% of haemophilia A families studied.	Control:150/ families of the cases and 150 women from nonhaemophilic families;Case:63 Asian Indian haemophiliacs										
122957		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	X	Xq28	F8	153717257	153904192		Shetty, S.  et al. 2000	11128113				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Indian	India	CDC GDPinfo	2157	Hs.632836			Haematologia. 2000 ;30(3):203-7	St 14 (DX S52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families.		306700	10513	2	2000	Out of 65 families studied using this polymorphism for carrier detection and antenatal diagnosis, 58 were informative with this polymorphism. thus indicating that this polymorphism can serve as an important marker in the carrier detection and prenatal diagnosis of haemophilia A families.	Cohort 282 unrelated subjects India 										
122958	N	thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	X	Xq28	F8	153717257	153904192		Kamphuisen, P. W.  et al. 2001	11722428				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDPinfo	2157	Hs.632836			British journal of haematology. 2001 Oct;115(1):156-8	High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene.		306700	10514	2	2001	Our data do not support the hypothesis that a single functional sequence variation in the factor VIII or VWF gene explains the majority of high factor VIII levels and thrombotic risk.	Case:301 thrombosis patients;Control:301 matched healthy controls										
122953		plasma factor XIII	METABOLIC	MET	Myocardial Infarction|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192		Heng CK 2004	14593529	V34L			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Indian	Singapore|India|China	KGB	2157	Hs.632836			Human genetics. 2004 Jan;114(2):186-91	The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore.		306700	2526	1	2004												
122954	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	X	Xq28	F8	153717257	153904192		Kohler HP et al. 1998	9459313				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			KGB	2157	Hs.632836			Thrombosis and haemostasis. 1998 Jan;79(1):13-Aug	Association of a common polymorphism in the factor XIII gene with myocardial infarction.		306700	2527	1	1998												
122955	Y	hemophilia	HEMATOLOGICAL	HEM		X	Xq28	F8	153717257	153904192		Attie-Castro, F. A.  et al. 2000	11057857	Val34Leu			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Japanese		CDC GDPinfo	2157	Hs.632836			Thrombosis and haemostasis. 2000 Oct;84(4):601-3	Ethnic heterogeneity of the factor XIII Val34Leu polymorphism.		306700	10511	2	2000	These data confirm that FXIII Val34Leu is highly prevalent in Caucasians and indicate that it is rarer in populations of African origin. The very high frequency among Amerindians indicates that FXIII Val34Leu is not absent among Asians, and since it has a very low prevalence in Japanese, a heterogeneity in its distribution in Asia may be inferred. Taken together, our data showed that FXIII Val34Leu exhibits a significant ethnic heterogeneity, a finding that is relevant for studies relating this polymorphism with thrombotic and bleeding disorders.	Cohort 450 										
122949	Y	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	X	Xq28	F8	153717257	153904192		Catto AJ et al. 1999	9920839				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2		England	KGB	2157	Hs.632836			Blood. 1999 Feb;93(3):906-8	Association of a common polymorphism in the factor XIII gene with venous thrombosis.		306700	2522	1	1999												
122950	Y	brain infarction	CARDIOVASCULAR	CARD	Brain Infarction	X	Xq28	F8	153717257	153904192		Elbaz A et al. 2000	10627467				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			KGB	2157	Hs.632836			Blood. 2000 Jan;95(2):586-91	The association between the Val34Leu polymorphism in the factor XIII gene and brain infarction.		306700	2523	1	2000												
122951		factor VII deficiency	HEMATOLOGICAL	HEM	Factor VII Deficiency	X	Xq28	F8	153717257	153904192		Sabater-Lleal M 2003	12935978				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Spanish	Spain	KGB	2157	Hs.632836			Haematologica. 2003 Aug;88(8):906-13	Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications.		306700	2524	1	2003	 These results highlight the importance of a concerted effect of multiple genetic factors in determining FVII levels. Since there is evidence that FVII levels constitute a risk factor for coronary heart disease and considering the importance of F7 DNA polymorphisms in determining FVII levels, further analyses of these polymorphisms should yield information to aid the understanding of the quantitative variation in FVII levels and the relative genetic risk for cardiovascular disease in the general population.											
122946	N	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	X	Xq28	F8	153717257	153904192	n	Kamphuisen PW et al. 2001	11722428				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			KGB	2157	Hs.632836			British journal of haematology. 2001 Oct;115(1):156-8	High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene.		306700	2519	1	2001	Our data do not support the hypothesis that a single functional sequence variation in the factor VIII or VWF gene explains the majority of high factor VIII levels and thrombotic risk.	Case:301 thrombosis patients;Control:301 matched healthy controls										
122947	N	primary intracerebral hemorrhage and healthy controls	CARDIOVASCULAR	CARD	Cerebral Hemorrhage	X	Xq28	F8	153717257	153904192	n	Cho KH et al. 2002	11961312	Val34Leu			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Korean	Korea	KGB	2157	Hs.632836			Journal of Korean medical science. 2002 Apr;17(2):249-53	No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.		306700	2520	1	2002												
122948		high plasma factor VIII: C levels	OTHER	OTH	Venous Thrombosis	X	Xq28	F8	153717257	153904192		Mansvelt EP et al. 1998	9798969				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			KGB	2157	Hs.632836			Thrombosis and haemostasis. 1998 Oct;80(4):561-5	Analysis of the F8 gene in individuals with high plasma factor VIII: C levels and associated venous thrombosis.		306700	2521	1	1998												
122943		atherosclerosis, coronary	CARDIOVASCULAR	CARD		13	13q34	F7	112808105	112822996		Ortlepp, J. R.  et al. 2002	12446192				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		227500	27907	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
122944		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	13	13q34	F7	112808105	112822996		Zee, R. Y.  et al. 2002	12082592				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		227500	28516	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
122945	Y	factor VIII and factor IX genes	HEMATOLOGICAL	HEM	Hemophilia A|Hemophilia B	X	Xq28	F8	153717257	153904192		Goodeve AC et al. 1994	7910050				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2	Thai and Western European	Thailand|Europe	KGB	2157	Hs.632836			Blood coagulation & fibrinolysis. 1994 Feb;5(1):29-35	A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations.		306700	2518	1	1994												
122940		longevity	AGING	AGE		13	13q34	F7	112808105	112822996		Stessman, J.  et al. 2005	15621215				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		227500	25994	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
122941		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	13	13q34	F7	112808105	112822996		Rubattu, S.  et al. 2005	15968394				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Italy	CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		227500	25995	2	2005												
122942		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Adams, G. T.  et al. 2003	12871600				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		227500	27421	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
122937		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Shaw, G. M.  et al. 2005	16100725				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		California	CDC GDPinfo	2155	Hs.36989			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		227500	24405	2	2005			smoking (tobacco), maternal									
122938	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996			12615788				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		227500	24406	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
122939		coronary artery disease	CARDIOVASCULAR	CARD	Intracranial Embolism|Cardiovascular Diseases|Coronary Thrombosis|Thrombophilia|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Wu, A. H.  et al. 2001	11397354				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			The American journal of cardiology. 2001 Jun;87(12):1361-6	Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases.		227500	24407	2	2001	This study shows that for some genes, further studies are unnecessary, whereas for others, no more enrollments are needed. The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies.	studies clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor 										
122934		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	13	13q34	F7	112808105	112822996			16353042				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Kardiologiia. 2005 ;45(12):17-24	[Associations of Hemostasis Factors Genes With Early Development of Ischemic Heart Disease and Manifestation of Myocardial Infarction in Young Age.]		227500	21379	2	2005	 Thus we obtained data on the presence of independent association between IHD risk and manifestation of MI in young age with genotype TT of polymorphic marker C(-426)T of F5 gene as well as with traditional risk factors of IHD.											
122935	N	cerebral infarct	OTHER	OTH	Cerebral Infarction	13	13q34	F7	112808105	112822996		Petrovic, D.  et al. 2003	12859287				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Slovenia	CDC GDPinfo	2155	Hs.36989			Acta neurologica Scandinavica. 2003 Aug;108(2):109-13	Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.		227500	21380	2	2003	 The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.	Control:115 control subjects;Case:96 Slovene patients who suffered atherothrombotic cerebral infarction										
122936		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	13	13q34	F7	112808105	112822996		Kornman, K. S.  et al. 2001	11887471				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		227500	24404	2	2001	Review Article											
122931	Y	myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	13	13q34	F7	112808105	112822996		Xu, G.  et al. 2003	12579498				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		China	CDC GDPinfo	2155	Hs.36989			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):39-42	[Association of coagulation factor V,VII gene polymorphisms with coronary heart disease]		227500	21376	2	2003	 The Q allele of the R353Q polymorphism of the FVII gene may be a protective factor against myocardial infarction.	Control:210:controls;Case:234 Chinese Han coronary heart disease patients										
122932		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Donati, M. B.  et al. 2001	11926770				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Haematologica. 2001 Nov;86(11 Suppl 2):28-30	Genetic polymorphisms of clotting factors and coronary heart disease		227500	21377	2	2001	Review article											
122933		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases	13	13q34	F7	112808105	112822996		Fox, C. S.  et al. 2004	14963283				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Massachusetts	CDC GDPinfo	2155	Hs.36989			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of Association Between Polymorphisms in the Hemostatic Factor Pathway Genes and Carotid Intimal Medial Thickness. The Framingham Heart Study		227500	21378	2	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort 										
122928	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Arterial Occlusive Diseases|Thrombosis|Thrombophilia	13	13q34	F7	112808105	112822996		Yeh, P. S.  et al. 2004	15351855				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Taiwan	CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2004 Sep;92(3):583-9	Prognosis of young ischemic stroke in Taiwan:impact of prothrombotic genetic polymorphisms		227500	19408	2	2004	Our data indicate that the prothrombotic genetic polymorphisms do not have a significant influence on the prognosis in young ischemic stroke due to arterial occlusion or undetermined causes in Taiwan.	Cohort 231 patients younger than 50 years (mean age 44.6 years, range 25 to 49 years) with acute ischemic stroke due to large artery atherosclerosis (n=90), small artery occlusion (n=114) or undetermined cause (n=27) Taiwan 										
122929		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction	13	13q34	F7	112808105	112822996		Kakko, S.  et al. 2002	12486862				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			European journal of clinical investigation. 2002 Sep;32(9):643-8	Polymorphisms of genes affecting thrombosis and risk of myocardial infarction.		227500	21374	2	2002	 The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.	Case:142 acute myocardial infaction survivors;Control:142 age- and sex-matched control subjects	smoking (tobacco)									
122930	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction|Diabetic Angiopathies|Hypertension	13	13q34	F7	112808105	112822996		Petrovic, D.  et al. 2001	11334615				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Slovenia	CDC GDPinfo	2155	Hs.36989			Ann Genet. 2001 Jan-Mar;44(1):33-6	Joint effect of G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism on the risk of premature coronary artery disease.		227500	21375	2	2001	In conclusion, we provide evidence for a joint effect on CAD risk between G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between factor V point mutation and metabolic risk factors.	Control:132 healthy subjects;Case:167 patients with coronary artery disease younger than 55 years old:Slovenia										
122925	Y	factor VII levels	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Nour, M.  et al. 2004	15469874				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Tunisian		CDC GDPinfo	2155	Hs.36989			Clinica chimica acta; international journal of clinical chemistry. 2004 Nov;349(2-Jan):199-202	Prevalence in a Tunisian Arabic population of factor VII DNA variants and relation to factor VII plasma levels.		227500	16608	2	2004	 The prevalence of the Q allele which was found to be associated with lower plasma FVIIc levels is high in Tunisian population. Further analyses should yield information on the protective role of carrying the Q allele for coronary heart disease.	Cohort 240 healthy Tunisians Tunisia 										
122926		factor VII deficiency	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Mariani, G.  et al. 2005	15735798				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2005 Mar;93(3):481-7	Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.		227500	16609	2	2005	Our study depicts the ample clinical picture of this rare disorder, proposes a severity classification and provides arguments for the early management of the disease in the severe cases. Genotype-phenotype relationships indicate the presence of major environmental and/or extragenic components modulating expressivity of FVII deficiency.	Cohort 313 patients with factor II deficiency 										
122927		heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hyperlipoproteinemia Type II	13	13q34	F7	112808105	112822996		Meshkov, A. N.  et al. 2005	16091654				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Kardiologiia. 2005 ;45(7):14-Oct	[Genetic Factors of Risk of Ischemic Heart Disease Development in Patients With Familial Hypercholesterolemia.]		227500	17884	2	2005	 In patients with FHC polymorphisms in factor VII and GPIIIa genes but not C677T polymorphism of MTHFR gene were associated with the presence of IHD.											
122922		factor VII antigen; factor VII coagulant activity	HEMATOLOGICAL	HEM	Factor VII Deficiency	13	13q34	F7	112808105	112822996		Liu, Y.  et al. 2002	11943935				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Chinese	Singapore|China	CDC GDPinfo	2155	Hs.36989			Blood coagulation & fibrinolysis. 2002 Apr;13(3):217-24	Genotype associations of factor VII gene with plasma factor VII coagulant activity and antigen levels in healthy Chinese		227500	16605	2	2002	In the Chinese, the 10 bp insertion may reduce transcription of the FVII gene, leading to the decreased synthesis of FVII protein and thus FVIIc.	Cohort 423 healthy Chinese individuals (209 male and 214 female) 										
122923	Y	obesity	METABOLIC	MET	Hyperlipidemias|Obesity	13	13q34	F7	112808105	112822996		Berthier, M. T.  et al. 2003	12851844				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Journal of human genetics. 2003 ;48(7):367-73	Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of visceralobesity.		227500	16606	2	2003	In conclusion, results of the present study suggest that the factor VII R353 allele is associated with lower concentrations of plasma apo B levels. However, the presence of visceral obesity abolishes this effect. Further studies will be necessary to confirm this association and the mechanism involved.	Cohort 299 French-Canadian men, selected in order to cover a wide range of body fatness values 										
122924	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Carcinoma, Hepatocellular|Coronary Disease|Myocardial Infarction	13	13q34	F7	112808105	112822996		Carew, J. A.  et al. 2003	14521602				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Journal of thrombosis and haemostasis. 2003 Oct;1(10):2179-85	A functional haplotype in the 5' flanking region of the factor VII gene is associated with an increased risk of coronary heart disease		227500	16607	2	2003	 The promoter haplotype, -670C/-630G/402A, was associated with significantly increased plasma FVII coagulant activity, risk of an initial coronary event, particularly acute myocardial infarction, and reporter gene expression.	Cohort 1,957 men 										
122919		cerebral palsy	OTHER	OTH	Cerebral Palsy|Thrombosis|Hypertension	13	13q34	F7	112808105	112822996		Nelson, K. B.  et al. 2005	15718364				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Pediatric research. 2005 Apr;57(4):494-9	Genetic polymorphisms and cerebral palsy in very preterm infants.		227500	12863	2	2005	We conclude that  further study of genetic factors that may influence susceptibility to CP in very preterm infants is warranted.	Control:119 control children;Case:96 singleton infants with later-diagnosed cerebral:palsy										
122920	N	fibrinogen; factor VII; plasminogen activator inhibitor-1	METABOLIC	MET	Cerebral Infarction|Myocardial Ischemia	13	13q34	F7	112808105	112822996		Ando, R.  et al. 2002	12141403				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Clinical nephrology. 2002 Jul;58(1):25-32	Association of beta-fibrinogen and factor VII polymorphism with plasma fibrinogen and factor VII levels, and no association of PAI-1 polymorphism with plasma PAI-1 levels in hemodialysis patients.		227500	13640	2	2002	 In HD patients, beta-fibrinogen and factor VII polymorphisms affected plasma levels of fibrinogen and factor VII, respectively. Beta-fibrinogen polymorphism was not an independent but a possible risk factor for CI in HD patients. Further study will be needed to confirm the precise role of 5-fibrinogen polymorphisms in the pathogenesis of CI in HD patients.	Control:100:controls;Case:149 hemodialysis patients										
122921		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Zito, F.  et al. 2000	11044420				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Circulation. 2000 Oct;102(17):2058-62	Epidemiological and genetic associations of activated factor XII concentration with factor VII activity, fibrinopeptide A concentration, and risk of coronary heart disease in men.		227500	16604	2	2000	 The C46T polymorphism is a determinant of FXIIa, FPA, and possibly FVIIc, suggesting that FXII influences the activity state of the coagulation pathway and FPA cleavage from fibrinogen in vivo. Plasma FXIIa is increased in middle-aged men at high risk of CHD.	Cohort 2624 men 50 to 61 years of age who were free of CHD at baseline 										
122916	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Laasanen, J.  et al. 2002	12151156			promoter	Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Finnish		CDC GDPinfo	2155	Hs.36989			Obstetrics and gynecology. 2002 Aug;100(2):317-20	Fibrinogen and factor VII promoter polymorphisms in women with preeclampsia.		227500	10677	2	2002	 The G-455A polymorphism of the fibrinogen gene promoter and the decamer insertion or deletion polymorphism of the factor VII gene promoter are unlikely to be major genetic predisposing factors for preeclampsia in subjects from eastern Finland.	Control:115 healthy control pregnant women;Case:133 preeclamptic pregnant women eastern Finland										
122917		thrombosis, deep vein	CARDIOVASCULAR	CARD		13	13q34	F7	112808105	112822996		Bloemenkamp, K. W.  et al. 2002	12616980				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Vascular pharmacology. 2002 Aug;39(3):131-6	Genetic polymorphisms modify the response of factor VII to oral contraceptive use: an example ofgene-environment interaction.		227500	10681	2	2002	We conclude that  an individual's genetic variation may contribute to the response of plasma factor VII to oral contraceptive use.	Cohort 95 women radomized to receive two types of oral contraceptives 	oral contraceptive									
122918		myocardial infarct; lipoprotein; obesity	CARDIOVASCULAR	CARD	Myocardial Infarction|Obesity|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Pegoraro, R. J.  et al. 2005	16049588				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Indian		CDC GDPinfo	2155	Hs.36989			Cardiovascular journal of South Africa. 2005 May-Jun;16(3):152-7	Coagulation gene polymorphisms as risk factors for myocardial infarction in young Indian Asians.		227500	10699	2	2005	 In young Indian Asians who are both obese and smoke, the beta-fibrinogen genetic polymorphisms -455G-->A and -148C-->T, which are in linkage disequilibrium, are significant risk factors for the development of MI. Factor VII genetic variants, namely the 10 bp promoter insertion/deletion and R353Q polymorphisms, may possibly play a protective role through their association with elevated HDL and low LDL levels, respectively.		smoking (tobacco)									
122913		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	13	13q34	F7	112808105	112822996		Miller, C. H.  et al. 2005	15968393				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2005 Jun;93(6):1089-94	Elevated factor VII as a risk factor for recurrent fetal loss. Relationship to factor VII gene polymorphisms.		227500	10508	2	2005												
122914	Y	factor VII	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Mtiraoui, N.  et al. 2005	16003772	Arg353Gln		promoter	Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Tunisian		CDC GDPinfo	2155	Hs.36989			American journal of hematology. 2005 Jul;79(1):16-Nov	Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians.		227500	10509	2	2005												
122915		atherosclerosis, coronary	CARDIOVASCULAR	CARD		13	13q34	F7	112808105	112822996		Lu, Q.  et al. 2005	16331575				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):691-3	[Plasma activated coagulation factor VI and Msp I polymorphism in elderly patients with coronary heart disease.]		227500	10510	2	2005	 Plasma F7a level may be an independent risk factor of coronary heart disease in elderly patients, and it may be influenced by the Msp I polymorphism of F7 gene.											
122910		atherosclerosis, coronary; FVII levels	CARDIOVASCULAR	CARD	Angina Pectoris|Chronic Disease|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Jeffery, S.  et al. 2005	15837082	Arg353Gln			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			International journal of cardiology. 2005 Apr;100(3):395-9	A protective contribution of the Q allele of the R353Q polymorphism of the Factor VII gene in individuals with chronic stable angina?		227500	10505	2	2005	 The degree of vessel disease as seen at day case angiography is independent of polymorphism status, but there appears nonetheless to be a moderate protective effect of the Q allele against stable angina, in that angiographic investigation occurs a few years later for RQ heterozygotes than RR homozygotes. The effect may be mediated by reduced levels of Factor VII.	Cohort 519 chronic stable angina patients attending the hospital for routine day case angiography over a 20 month period 										
122911		hepatitis; liver disease, chronic	OTHER	OTH	Hepatitis, Chronic|Liver Cirrhosis	13	13q34	F7	112808105	112822996		Grimaudo, S.  et al. 2005	15893284				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Digestive and liver disease. 2005 Jun;37(6):446-50	Prolonged prothrombin time, Factor VII and activated FVII levels in chronic liver disease are partly dependent on Factor VII gene polymorphisms.		227500	10506	2	2005	 Our findings help to explain the not infrequent finding of a severely prolonged prothrombin time in patients who are otherwise in a good functional class.											
122912	Y	factor VII	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Mtiraoui, N.  et al. 2005	15952268	Arg353Gln		promoter	Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Tunisian		CDC GDPinfo	2155	Hs.36989			American journal of hematology. 2005 May;79(1):6-Nov	Reduction in coagulation factor VII plasma levels by R353Q but not the -323P0/10 promoter polymorphism in healthy Tunisians.		227500	10507	2	2005												
122907	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	13	13q34	F7	112808105	112822996		Bozzini, C.  et al. 2004	15351850			promoter	Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2004 Sep;92(3):541-9	Influence of polymorphisms in the factor VII gene promoter on activated factor VII levels and on the risk of myocardial infarction in advanced coronary atherosclerosis		227500	10502	2	2004	We can conclude that FVII gene polymorphisms with an opposite effect on FVIIa levels may modulate the risk of MI in males with advanced CAD. This study highlights a "within-gene" interaction, and the need to explore polymorphisms in candidate gene(s) in detail.	Cohort 934 subjects of both sexes, all with an angiographic documentation of coronary vessels 										
122908	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	13	13q34	F7	112808105	112822996		Sass, C.  et al. 2004	15452029				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Hypertension. 2004 Nov;44(5):674-80	Association between factor VII polymorphisms and blood pressure: the Stanislas Cohort.		227500	10503	2	2004	These results suggest that the FVII gene may be a susceptibility locus for hypertension.	Case:547 hypertensives enrolled in a clinical trial;Control:624 normotensives drawn from the Stanislas Cohor										
122909		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases	13	13q34	F7	112808105	112822996		Eriksson-Berg, M.  et al. 2005	15711754				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2005 Feb;93(2):351-8	Influence of factor VII gene polymorphisms and environmental factors on plasma coagulation factor VII concentrations in middle-aged women with and without manifest coronary heart disease.		227500	10504	2	2005	Large-scale prospective studies of CHD including FVII haplotypes and sensitive and specific FVII measurements are needed in women.	Control:220 middle-aged women without coronary heart disease;Case:238 middle-aged women with coronary heart disease										
122904		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus|Hypercholesterolemia	13	13q34	F7	112808105	112822996		Lindman, A. S.  et al. 2004	15081566	Arg353Gln			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Norway	CDC GDPinfo	2155	Hs.36989			Thrombosis research. 2004 ;113(1):57-65	Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at high risk for coronary heart disease.		227500	10499	2	2004	 No significant associations between the R353Q polymorphism and MI, CVD, or diabetes were observed, although the polymorphism strongly influenced plasma levels of FVII. Serum PC correlated significantly with FVIIag and inversely with FVIIa, independently of genotype.	Cohort 560 elderly men, characterized as hypercholesterolemi in 1972 										
122905	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	13	13q34	F7	112808105	112822996		Ogawa, M.  et al. 2004	15170085	Arg353Gln			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Japanese	Japan	CDC GDPinfo	2155	Hs.36989			Circulation journal. 2004 Jun;68(6):520-5	R353Q polymorphism, activated factor VII, and risk of premature myocardial infarction in Japanese men.		227500	10500	2	2004	 The Q allele may be protective against premature MI.	Case:127 Japanese men with their first MI at or before 45 years of age;Control:150 matched healthy controls										
122906		triglycerides; coagulation factor VII; phospolipids	METABOLIC	MET	Coronary Disease|Arteriosclerosis	13	13q34	F7	112808105	112822996		Lindman, A. S.  et al. 2004	15175795				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2004 Jun;91(6):1097-104	The effects of long-term diet and omega-3 fatty acid supplementation on coagulation factor VII and serum phospholipids with special emphasis on the R353Q polymorphism of the FVII gene.		227500	10501	2	2004	The results indicate the dietary advice to be more favourable in reducing this risk factor for CVD as compared to specific VLC n-3 supplementation.	Cohort 219 subjects from the Diet and Omega-3 Intervention Trial on atherosclerosis (DOIT) 	diet very long chain n-3 fatty acids									
122901		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	13	13q34	F7	112808105	112822996		Xu, G.  et al. 2003	12935410				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Chinese	China	CDC GDPinfo	2155	Hs.36989			Chinese medical journal. 2003 Aug;116(8):1194-7	Polymorphisms in the coagulation factor VII gene and the risk of myocardial infarction in patients undergoing coronary angiography		227500	10496	2	2003	 Carrying the F VII Gln(353) gene may be a protective factor against MI in the Chinese Hans.	Cohort 374 patients undergoing selective coronary angiography 										
122902	Y	cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Acute Disease	13	13q34	F7	112808105	112822996		Kang, W. Y.  et al. 2004	14733777				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Chinese	China|Europe	CDC GDPinfo	2155	Hs.36989			Chinese medical journal. 2004 Jan;117(1):71-4	Polymorphisms of the coagulation factor VII gene and its plasma levels in relation to acute cerebral infarction differences in allelic frequencies between Chinese Han and European populations		227500	10497	2	2004	 The results indicate that increased plasma FVII levels may contribute to thrombosis in cerebral infarction. And there was no significant difference in genotype frequencies of these five FVII gene polymorphisms between the acute cerebral infarction and control groups. Moreover, these results showed that the frequencies of protective allele, including -401T, 5'F7 A2 and 353Q were lower, but that -402A, which was previously found to be associated with increased plasma FVII levels, is higher in Chinese Han population.	Control:149 age-matched patients clinically free of vascular:disease;Case:62 Chinese Han patients with acute cerebral infarction										
122903		coagulation disorder	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Ghiu, I. A.  et al. 2004	14766762				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Journal of applied physiology (Bethesda, Md :  1985). 2004 Mar;96(3):985-90	Selected genetic polymorphisms and plasma coagulation factor VII changes with exercise training.		227500	10498	2	2004	We conclude that  plasma FVII-Ag changes with exercise training are more closely related to selected lipid-related genotypes than FVII gene promoter variants.	Cohort 46 healthy sedentary men and women 										
122898		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Disease Progression	13	13q34	F7	112808105	112822996		Shimokata, K.  et al. 2002	12091048				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Japanese	Japan	CDC GDPinfo	2155	Hs.36989			Thrombosis research. 2002 Mar;105(6):493-8	Effects of coagulation Factor VII polymorphisms on the coronary artery disease in Japanese: Factor VIIpolymorphism and coronary disease.		227500	10493	2	2002	In conclusion, M2 and/or 10 allele has protective effects on the developing CAD in individuals with a normal cholesterol level.	Cohort 380 unrelated Japanese individuals (mean 64 years) who underwent coronary angiography and whose cholesterol levels were within normal range 										
122899		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	13	13q34	F7	112808105	112822996		Kang, W.  et al. 2002	12482354				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Zhonghua xue ye xue za zhi. 2002 Sep;23(9):457-9	[Study on plasma coagulation factor VII (FVII) levels and polymorphisms of FVII gene in patients with coronary heart disease]		227500	10494	2	2002	 Increased FVII levels, especially FVIIa and FVIIc in plasma, may contribute to coronary artery thrombosis. There was significant difference in IVS7 genotype frequency between control and AMI groups, but the rest weren't significantly different. FVII: Ag was significantly higher in -402A homozygote than that in -402G homozygote. Polymorphism of -402 G/A may play an indirect role in AMI by regulating plasma FVII levels.	Control:149:controls;Case:60/33 coronary heart disease (n=60) and acute myocardial:infarction (n=33) cases										
122900		stroke; insulin resistance	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Insulin Resistance	13	13q34	F7	112808105	112822996		Kain, K.  et al. 2002	12529745	Arg353Gln			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Asia	CDC GDPinfo	2155	Hs.36989			Thrombosis and haemostasis. 2002 Dec;88(6):954-60	Coagulation factor VII activity, Arg/Gln353 polymorphism and features of insulin resistance in first-degree-relatives of South Asian patients with stroke.		227500	10495	2	2002		Case:140/146 South Asian stroke subjects (n=140) and first-degree relatives (n=146):UK;Control:143 control subjects without a personal or a family history of stroke living in the UK										
122895		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	13	13q34	F7	112808105	112822996		Heywood DM 1996	8701397				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			Y Wang	2155	Hs.36989			Thrombosis and haemostasis. 1996 Mar;75(3):401-6	Factor VII gene polymorphisms, factor VII:C levels and features of insulin resistance in non-insulin-dependent diabetes mellitus.		227500	2516	1	1996												
122896	N	intimal medial thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases	13	13q34	F7	112808105	112822996		Fox CS 2004	14963283	Arg/Gln			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Massachusetts	KGB	2155	Hs.36989			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of association between polymorphisms in the hemostatic factor pathway genes and carotid intimal medial thickness: the Framingham Heart Study.		227500	2517	1	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort										
122897		body mass; lipids	METABOLIC	MET		13	13q34	F7	112808105	112822996		Stengard, J. H.  et al. 2001	11555697				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDPinfo	2155	Hs.36989			Blood coagulation & fibrinolysis. 2001 Sep;12(6):445-52	Utility of the Arg/Gln polymorphism of the factor VII (FVII) gene, serum lipid levels and body mass index in the prediction of the FVII:C and FVII:Agin North Karelia; a cross-sectional and prospective study.		227500	10492	2	2001	A consequence of these complex genetic architectures is that predictive utility of the Arg/Gln genotypes depends on population, gender, serum lipid levels, and BMI, and changes in these factors over time.	Cohort 465 individuals (203 males and 262 females, aged 45-64 years, who were seen twice North karelia 1992 and 1995 										
122891	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996	n	Batalla A 2001	11578716	R353Q and intron 7 hypervariable region			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Middle- Aged Spanish	Spain	KGB	2155	Hs.36989			International journal of cardiology. 2001 Sep-Oct;80(3-Feb):209-12			227500	2512	1	2001		Case:175; Control:200										
122892	Y	plasma factor VII activity and antigen levels	METABOLIC	MET		13	13q34	F7	112808105	112822996		Saha N et al. 1994	7981180				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			KGB	2155	Hs.36989			Arteriosclerosis and thrombosis. 1994 Dec;14(12):1923-7	Association of factor VII genotype with plasma factor VII activity and antigen levels in healthy Indian adults and interaction with triglycerides.		227500	2513	1	1994												
122894		thrombotic diseases	OTHER	OTH	Thrombosis	13	13q34	F7	112808105	112822996		Herrmann FH 2004	14689519	F7 IVS7, FV7 R353Q			Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Indian	Costa Rica	KGB	2155	Hs.36989			American journal of human biology. 2004 Jan-Feb;16(1):82-6	Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.		227500	2515	1	2004												
122888		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	1	1q23	F5	167747815	167822393		Pallaud, C.  et al. 2001	11341749				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		France|Italy	CDC GDPinfo	2153	Hs.30054			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		227400	28143	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
122889		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	1	1q23	F5	167747815	167822393		Navarro-Lopez, F.   2002	11975906				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		227400	28375	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
122890		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	1	1q23	F5	167747815	167822393		Zee, R. Y.  et al. 2002	12082592				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		227400	28498	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
122885		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1q23	F5	167747815	167822393		Hefler, L.  et al. 2004	14706682				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		227400	26861	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122886		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	1	1q23	F5	167747815	167822393			16369102				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		227400	27420	2	2006			diet family history stress									
122887		blood pressure, arterial	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Sass, C.  et al. 2004	15076187				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		227400	27712	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
122882		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	1	1q23	F5	167747815	167822393		De Maat, M. P.  et al. 2004	15333035				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes		227400	25993	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
122883		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Adams, G. T.  et al. 2003	12871600				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		227400	26859	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
122884		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Casas, J. P.  et al. 2004	15534175				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		227400	26860	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
122879		menopause	REPRODUCTION	REP	Thrombophilia	1	1q23	F5	167747815	167822393		Tempfer, C. B.  et al. 2005	15879922				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		227400	25990	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
122880		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q23	F5	167747815	167822393		Tempfer, C. B.  et al. 2004	15120696				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		227400	25991	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
122881		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	1	1q23	F5	167747815	167822393		Ozbek, N.  et al. 2005	15831156				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		227400	25992	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
122876	N	cancer; thromboembolism, venous	CANCER	CAN	Neoplasms|Venous Thrombosis	1	1q23	F5	167747815	167822393		Ramacciotti, E.  et al. 2003	12757770				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis research. 2003 Feb;109(4):171-4	Prevalence of factor V Leiden, FII G20210A, FXIII Val34Leu and MTHFR C677T polymorphisms in cancer patients with and without venous thrombosis		227400	24402	2	2003	The present data do not point to an association between the four polymorphisms here investigated and the risk of VTE in cancer patients.	Cohort 211 unrelated and unselected patients (M/F ratio 0.5, mean age 57 years, range 12-91 years) with a diagnosis of cancer Sao Paulo, Brazil 										
122877		intrauterine growth retardation	REPRODUCTION	REP	Fetal Growth Retardation	1	1q23	F5	167747815	167822393		Infante-Rivard, C.  et al. 2005	16192348				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Canada	CDC GDPinfo	2153	Hs.30054			American journal of epidemiology. 2005 Nov;162(9):891-7	Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns		227400	24403	2	2005												
122878		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	1	1q23	F5	167747815	167822393		French, J. K.  et al. 2003	12514663				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		227400	25989	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
122873		varicose ulcers	UNKNOWN	UNK	Varicose Ulcer|Chronic Disease|Disease Progression	1	1q23	F5	167747815	167822393		Gemmati, D.  et al. 2004	15453833				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Wound repair and regeneration. 2004 Sep-Oct;12(5):512-7	Factor XIII V34L polymorphism modulates the risk of chronic venous leg ulcer progression and extension.		227400	24399	2	2004	We conclude that  FXIII antigen levels and FXIII V34L polymorphism may play a crucial role in the complex cascade of CVU pathophysiology, being significantly related to the CVU progression and extension because of the direct effects they have on the FXIII molecular activity.	Control:195 healthy controls (91 of them sex- and age-matched);Case:91 chronic venous leg ulcer patients										
122874		birth weight; preterm delivery	REPRODUCTION	REP	Premature Birth	1	1q23	F5	167747815	167822393		Hartel, C.  et al. 2005	16113789				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 Jul;94(1):88-92	Polymorphisms of haemostasis genes as risk factors for preterm delivery.		227400	24400	2	2005												
122875		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	1	1q23	F5	167747815	167822393		Rubattu, S.  et al. 2005	15968394				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Italy	CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		227400	24401	2	2005												
122870	Y	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Grossmann, R.  et al. 2002	12439143				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Blood coagulation & fibrinolysis. 2002 Oct;13(7):583-90	Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease		227400	24396	2	2002	In conclusion, in younger adults the FVL mutation is a risk factor for cerebrovascular disease. FIIM, the MTHFR TT677 genotype and the CBS 844ins68 mutation did not contribute to the risk in this group of patients. The EPCR 4031ins23 mutation is very rare, its possible role needs further investigation.	Control:186 healthy age-matched and sex-matched blood donors;Case:93 patients younger than 50 years old with thromboembolic strokes or transient ischemic:attacks										
122871		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	1	1q23	F5	167747815	167822393		Weger, M.  et al. 2005	16157382				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		227400	24397	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
122872	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Butt, C.  et al. 2002	12480694				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Newfoundland	CDC GDPinfo	2153	Hs.30054			Blood. 2003 Apr;101(8):3037-41	Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-geneinteraction.		227400	24398	2	2002	Based on our data, 1) the FII 20210A allele is a risk factor for MI, possibly important for early onset; 2) FVL may predispose for early onset MI; 3) the FXIII-A L34 allele predisposes for MI in males only; however, 4) interaction between the FII 20210A and FXIII-A L34 alleles form a synergistic co-effect which strongly predisposes for MI, placing combined carriers at high risk for MI.	Case:500 myocardial infarct patients:Newfoundland;Control:500:controls										
122867		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1q23	F5	167747815	167822393		Pongracz, E.  et al. 2002	12122980				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Europe|Hungary	CDC GDPinfo	2153	Hs.30054			Ideggyogy Sz. 2002 Mar;55(4-Mar):111-7	[Genetics of blood coagulation in young stroke patients]		227400	24393	2	2002	 Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.	Control:173 healthy blood donors;Case:253 patients with stroke										
122868		longevity	CARDIOVASCULAR	CARD	Vascular Diseases	1	1q23	F5	167747815	167822393		Hessner, M. J.  et al. 2001	11568114				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		227400	24394	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
122869		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1q23	F5	167747815	167822393		Austin, H.  et al. 2002	12468767				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		United States	CDC GDPinfo	2153	Hs.30054			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		227400	24395	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
122864	N	cardiac death; cardiac morbidity	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q23	F5	167747815	167822393		Volzke, H.  et al. 2005	15676177				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			International journal of cardiology. 2005 Jan;98(1):133-9	Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery		227400	24390	2	2005	 We conclude that there are interactions between the angiotensin II type 1 receptor 1166 A/C as well as the angiotensinogen 235 M/T gene polymorphism and age with respect to the outcome after coronary artery bypass graft surgery. The glycoprotein IIIa PlA1/PlA2 and the factor V Leiden 1691 G/A gene polymorphisms were not associated with mid-term mortality or cardiac morbidity after coronary artery bypass grafting.	Cohort 247 coronary artery bypass graft surgery patients 										
122865	Y	thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Activated Protein C Resistance|Thrombophilia	1	1q23	F5	167747815	167822393		Matyskova, M.  et al. 2002	11998221				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Cas Lek Cesk. 2002 Mar;141(5):146-51	[ABO/H blood groups and factor V Leiden]		227400	24391	2	2002	 There is a 1.76 times higher thrombosis risk (1/0.5697 = 1.76) in factor V Leiden carriers with blood group non-0 compared to blood group 0. The ProC Global mean values differ in patients with blood group 0 and in non-0 persons.	Control:controls;Case individuals with thrombophilia										
122866	N	stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Chen, J.  et al. 2001	11718065				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		China	CDC GDPinfo	2153	Hs.30054			Zhonghua liu xing bing xue za zhi. 2001 Aug;22(4):273-6	A study of relationship between oral contraceptives and gene polymorphism and types of stroke		227400	24392	2	2001	 The results suggested that possible association existed between the use of COC and the onset of hemorrhagic stroke, however the mutations of G1691-->A in factor V gene, G20210-->A in prothrombin gene and I/D polymorphism of ACE gene did not seem to contribute to this association.	Case:111 female patients with stroke were selected and with questionnaires filled in and blood samples:collected										
122861		pregnancy loss, recurrent	REPRODUCTION	REP	Infertility, Female|Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	1	1q23	F5	167747815	167822393		Wolf, C. E.  et al. 2003	15170393				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Pathophysiology of haemostasis and thrombosis. 2003 May-Jun;33(3):134-7	Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor.		227400	21371	2	2003	9/49 women with RPL showed coagulation disorders with heterozygous FV Leiden mutation (5), FXII (1), protein C (1) or protein S (2) deficiency. However, due to the small number of patients studied, no definite conclusion can be drawn.	Control:controls;Case:49/32 women with at least 2 unexplained early abortions (n=49) and women with infertility (n=32)										
122862		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Thrombophilia|Syndrome|Recurrence	1	1q23	F5	167747815	167822393		Marcucci, R.  et al. 2005	15994914				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Heart    2005	PAI-1 and homocysteine, but not lipoprotein (a) nor thrombophilic polymorphism, are associated with the occurrence of major adverse cardiac events after successful coronary stenting.		227400	21372	2	2005	 Increased PAI-1 and homocysteine concentrations are independent risk factors for MACE after successful coronary stenting, whereas Lp(a) and thrombophilic polymorphisms are not predictive.											
122863	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q23	F5	167747815	167822393		Ranjith, N.  et al. 2003	14523329				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Indian	India	CDC GDPinfo	2153	Hs.30054			Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction		227400	21373	2	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
122858	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombosis	1	1q23	F5	167747815	167822393		Krause, M.  et al. 2005	15886801				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Caucasian		CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 May;93(5):867-71	Lipoprotein (a) and other prothrombotic risk factors in Caucasian women with unexplained recurrent miscarriage. Results of a multicentre case-control study.		227400	21368	2	2005	Upon univariate analysis the heterozygous FV mutation, Lp(a) > 30 mg/dL, increased APA/ACA and BMI > 25 kg/m(2) in combination with a prothrombotic risk factor were found to be significantly associated with uRM. In multivariate	Control:133 age-matched healthy controls;Case:133 Caucasian women aged 17-40 years (median 29 years) suffering from unexplained recurrent miscarriage:1998 - 2003										
122859		pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia	1	1q23	F5	167747815	167822393		Glueck, C. J.  et al. 2005	16154434				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Metabolism:  clinical and experimental. 2005 Oct;54(10):1345-9	The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity:etiologies for sporadic miscarriage.		227400	21369	2	2005												
122860		cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Venous Thrombosis	1	1q23	F5	167747815	167822393		Lichy, C.  et al. 2005	16155788				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of neurology. 2005	Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems.		227400	21370	2	2005	 In this large series of CVT patients, a positive association with established thrombophilic risk factors FVL and especially the PT G20210A mutation was confirmed. In contrast, our study found no significant association of CVT with SNPs of the TAFI and the PZ genes. Other than testing for FVL and the PT G20210A mutation, exploration of these potential thrombophilic variants seems to be of limited value in the investigation of CVT.											
122855	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Varela, M. L.  et al. 2001	11738073				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis research. 2001 Dec;104(5):317-24	Major and potential prothrombotic genotypes in a cohort of patients with venous thromboembolism.		227400	21365	2	2001	We conclude that  FVL and the PT-20210A are risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms do not appear to be associated with VT in our country.	Case:192 consecutive unrelated patients referred for evaluation of thrombophilia because of VT;Control:200 healthy controls										
122856		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Thrombosis|Hypertension|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		D'Aniello, G.  et al. 2003	14508198				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of hypertension. 2003 Oct;21(10):1915-20	The search for thrombophilic gene mutations in women with gestational hypertension does not help in predicting poor pregnancy outcome.		227400	21366	2	2003	 Only Factor II:C activity levels, uterine arterial Doppler and a history of familial hypertension are useful in predicting poor pregnancy outcome in gestational hypertension.	Cohort 59 women with gestational hypertension were prospectively tested between 24 and 26 weeks of gestation 										
122857		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Disease Progression	1	1q23	F5	167747815	167822393		Gerhardt, A.  et al. 2005	15842353				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of thrombosis and haemostasis. 2005 Apr;3(4):686-91	The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia.		227400	21367	2	2005	Hereditary risk factors for venous thrombosis do not predispose for severe preeclampsia. However, women who are carriers of the G20210A prothrombin gene mutation and the PAI-1 5G/5G genotype are at risk for early onset of severe preeclampsia. It appears that these risk factors do not induce the pathomechanism but accelerate the course of preeclampsia.	Control:277 normal women;Case:97 women with a history of preeclampsia;Case:97 women with evere preeclampsia in previous:pregnancies										
122852		stroke	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Patnaik, M.  et al. 2004	15096570				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			The Journal of molecular diagnostics. 2004 May;6(2):137-44	Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay.		227400	21362	2	2004	The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods.	Cohort 1,448 tested genotypes 										
122853		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	1	1q23	F5	167747815	167822393		Mansilha, A.  et al. 2005	16061406				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			European journal of vascular and endovascular surgery. 2005 Nov;30(5):545-9	Genetic polymorphisms and risk of recurrent deep venous thrombosis in young people: prospectivecohort study.		227400	21363	2	2005	 In this study, the risk of recurrent deep venous thrombosis in young people was not related with the presence of FV G1691A, FII G20210A, MTHFR C677T or PAI-1 4G/5G polymorphisms.											
122854		antiphospholipid syndrome	IMMUNE	IMM	Thrombophilia|Antiphospholipid Syndrome	1	1q23	F5	167747815	167822393		Forastiero, R.  et al. 2001	11454529				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Haematologica. 2001 Jul;86(7):735-41	The combination of thrombophilic genotypes is associated with definite antiphospholipid syndrome.		227400	21364	2	2001	 Present data indicate that testing for heritable thrombophilia would be important to identify aPL subjects with an increased risk of developing APS.	Case:105 consecutive unselected patients with antiphospholipid antibodies grouped as having antiphospholipid syndrome (n= 69) and not having antiphospholipid syndrome (n= 36);Control:200 healthy subjects										
122849		stroke, ischemic; cerebrovascular disease; thrombosis, arterial	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Antiphospholipid Syndrome	1	1q23	F5	167747815	167822393			16320685				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ter Arkh. 2005 ;77(10):49-53	[Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome]		227400	21359	2	2005	 It is suggested that mutations studied do not play a significant role in development of cerebral and systemic thrombosis in patients with PAPS. The leading role belongs to antiphospholipid antibodies (aPL). Sometimes these mutations may protect from thrombogenic aPL action. This could underlie less frequent development of recurrent ischemic stroke in patients with mutation.											
122850	Y	thromboembolism, venous	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Ray, J. G.  et al. 2001	11806787				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Current controlled trials in cardiovascular medicine. 2001 ;2(3):141-149	Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factorsfor venous thromboembolism in women.		227400	21360	2	2001	 Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.	Control Age-matched control women who were free of venous:thrombosis;Case:129 women aged 16-79 years with objectively confirmed:VTE										
122851		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Meglic, L.  et al. 2003	14597244				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			European journal of obstetrics, gynecology, and reproductive biology. 2003 Dec;111(2):157-63	Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism.		227400	21361	2	2003	 Women with pregnancy-related venous thromboembolism have an increased prevalence of inheritable thrombophilic defects predisposing them to an increased risk of thrombosis.	Case:30 women with a history of objectively confirmed venous thromboembolism during pregnancy or the:puerperium;Control:56 women with normal pregnancies										
122846	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Chuansumrit, A.  et al. 2004	15691154				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Thai	Thailand	CDC GDPinfo	2153	Hs.30054			The Southeast Asian journal of tropical medicine and public health. 2004 Jun;35(2):450-2	Absence of factor V Arg306--Thr and low factor V Arg306->Gly mutation prevalence in Thai blood donors.		227400	21356	2	2004	The low prevalence of factor V gene mutations in the codon Arg 306 may be relevant to the low rate of thrombosis among the Thai population.	Case:30 Thai children (boys 20, girls 10) experiencing a total of 36 thrombotic episodes;Control:500 healthy Thai adult voluntary blood donors (males 285, females 215)										
122847	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis	1	1q23	F5	167747815	167822393			15790048				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Vojnosanitetski pregled  Military-medical and pharmaceutical review. 2005 Mar;62(3):201-5	[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]		227400	21357	2	2005	 Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.	Cohort 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium 										
122848		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Almawi, W. Y.  et al. 2005	16082606				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Journal of thrombosis and thrombolysis. 2005 Jun;19(3):189-96	A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis.		227400	21358	2	2005	 This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT.											
122843		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Activated Protein C Resistance|Protein C Deficiency|Protein S Deficiency	1	1q23	F5	167747815	167822393		Prochazka, M.  et al. 2003	12879654				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ceska Gynekol. 2003 May;68(3):162-6	[Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia]		227400	21353	2	2003	 We didn't find any difference in the prevalence of genetic mutations in patients with preeclampsia compared to the control group. The prevalence of APC resistance was statistically higher in preeclamptic patients compared to the control group.	Case:38 women with confirmed diagnosis of preeclampsia;Control:50 women, chosen randomly										
122844		thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393			14669613				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ter Arkh. 2003 ;75(10):78-80	[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis]		227400	21354	2	2003	 Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.	Cohort 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery) 										
122845	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q23	F5	167747815	167822393		Driul, L.  et al. 2004	15531855				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Minerva ginecologica. 2004 Oct;56(5):385-90	[Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flowvelocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase]		227400	21355	2	2004	 We demonstrated the important association between FV Leiden mutation, abnormal uterine artery Doppler flow velocimetry at 24 weeks and pre-eclampsia in our low-risk population.	Case women with preeclampsia;Control patients with normal pregnancies										
122840		thrombosis	CARDIOVASCULAR	CARD	Budd-Chiari Syndrome|Venous Thrombosis|Budd-Chiari Syndrome|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Heller, C.  et al. 2000	11122096				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			British journal of haematology. 2000 Nov;111(2):534-9	Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - amulticentre case-control study. For the Childhood Thrombophilia Study Group.		227400	21350	2	2000	The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy.	Control:100 age- and sex-matched healthy controls;Case:65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10)										
122841		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Thrombophilia|Recurrence	1	1q23	F5	167747815	167822393		Bykowska, K.  et al. 2000	11434083				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Polish	Poland	CDC GDPinfo	2153	Hs.30054			Pol Arch Med Wewn. 2000 Nov;104(5):729-33	[Prevalence of G20210A prothrombin gene mutation in Poland]		227400	21351	2	2000	Our results indicate that the presence of the 20210A allele is a mild risk factor for venous thrombosis if not associated with other	Case:323 subjects with venous thromboembolism before the age of 45, recurrent VTE or thrombosis in an unusual:site.;Control:399 healthy individuals										
122842		pregnancy complications	REPRODUCTION	REP	Pregnancy Complications, Hematologic|Blood Coagulation Disorders	1	1q23	F5	167747815	167822393		Arcadia, P.  et al. 2002	11828266				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Minerva ginecologica. 2002 Feb;54(1):13-Sep	[Genetic mutations, acquired coagulation system disorders and obstetric pathology. Personal experience]		227400	21352	2	2002	 It is important to evaluate the hemocoagulation patterns in women with a history of complicated pregnancies.	Control:36 pregnancies without complications;Case:63 patients with pregnancy complications										
122837	Y	polycystic ovary syndrome; pregnancy loss, recurrent	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Blood Coagulation Disorders|Hyperinsulinism|Insulin Resistance|Recurrence|Body Weight	1	1q23	F5	167747815	167822393		Glueck, C. J.  et al. 2003	14669168				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Metabolism:  clinical and experimental. 2003 Dec;52(12):1627-32	Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrentpregnancy loss.		227400	21347	2	2003	The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.	Control:116 healthy Caucasian females;Case:33/16 Caucasian women referred for diagnosis and treatment of polycystic ovary syndrome (PCOS) subsequently found to have recurrent pregnancy loss (n=33) and women referred for recurrent pregnancy loss but no PCOS (n=16)										
122838		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	1	1q23	F5	167747815	167822393		Moutereau, S.  et al. 2004	15146467				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Human mutation. 2004 Jun;23(6):621-8	An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.		227400	21348	2	2004	Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense. Hum Mutat											
122839		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia	1	1q23	F5	167747815	167822393		Infante-Rivard, C.  et al. 2002	12097536				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			The New England journal of medicine. 2002 Jul;347(1):19-25	Absence of association of thrombophilia polymorphisms with intrauterine growth restriction.		227400	21349	2	2002	 Our findings do not indicate that there are associations between maternal or newborn polymorphisms associated with thrombophilia and an increased risk of intrauterine growth restriction.	Control:472 controls (with birth weight at or above the 10th:percentile);Case:493 newborns with intrauterine growth restriction (defined by birth weight below the 10th percentile for gestational age and sex according to Canadian norms) and their parents										
122834		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion	1	1q23	F5	167747815	167822393		Dodson, P. M.  et al. 2003	12928694				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Eye (London, England). 2003 Aug;17(6):772-7	The platelet glycoprotein Ia/IIa gene polymorphism C807T/G873A: a novel risk factor for retinal veinocclusion.		227400	21344	2	2003	These results suggest a major role for GpIa/IIa polymorphisms in the pathogenesis of RVO.	Case patients with retinal vasular occlusion;Control:controls										
122835		preeclampsia; hypertension, gestational	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Hematologic|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Morrison, E. R.  et al. 2002	12038776				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2002 May;87(5):779-85	Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: resultsfrom a large population-based study and systematic review.		227400	21345	2	2002	We conclude that  these prothrombotic genotypes are not associated with the development of PE or GH in our population. The systematic review supports our conclusion, for all but cases of severe disease. which appear to be associated with FVL and, to a lesser extent, MTHFR C677T. There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension.	Control:303/164 women with gestational hypertension (n=303), and control women (n=164);Case:404 women who developed preeclampsia										
122836	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1q23	F5	167747815	167822393		Hohlagschwandtner, M.  et al. 2003	12738509				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Fertility and sterility. 2003 May;79(5):1141-8	Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage.		227400	21346	2	2003	Our data fall short of showing any significant association between single polymorphisms of the MTHFR, the Factor V Leiden, the Factor II Prothrombin, the HPA 1 and APO B genes or combinations of these polymorphisms and the occurrence of IRM.	Control:101 healthy postmenopausal women with at least two live births and no history of pregnancy loss;Case:145 women with a history of three or more consecutive pregnancy losses before 20 weeks gestation										
122831		lymphoproliferative disorders	OTHER	OTH	Coronary Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera|Genetic Predisposition to Disease|Hemorrhage	1	1q23	F5	167747815	167822393		Afshar-Kharghan, V.  et al. 2004	15166939				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Blood coagulation & fibrinolysis. 2004 Jan;15(1):21-4	Hemostatic gene polymorphisms and the prevalence of thrombotic complications in polycythemia vera and essential thrombocythemia		227400	21341	2	2004	In view of previous studies linking the presence of the Pl allele of GPIIIa to a higher risk for coronary artery thrombosis, our data have physiologic relevance. However, they need to be confirmed in a larger study.	Cohort 86 patients with polycythemia vera (43 patients) or essential thrombocythemia (43 patients) 										
122832		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	1	1q23	F5	167747815	167822393		Rudack, C.  et al. 2004	15109703				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		227400	21342	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
122833		pregnancy loss, recurrent; fetal loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia|Recurrence	1	1q23	F5	167747815	167822393		Gerhardt, A.  et al. 2005	15630502				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 Jan;93(1):124-9	The polymorphism of platelet membrane integrin alpha2beta1 (alpha2807TT) is associated with premature onset of fetal loss.		227400	21343	2	2005	This study demonstrates a significant association of the alpha(2)807TT genotype of the platelet membrane integrin alpha(2)beta(1) with premature onset of early fetal loss. It appears that this risk factor does not induce the pathomechanism, but modulates the course of fetal loss. Furthermore, our study confirms the association of FVL with late fetal loss.	Case:104 women with fetal loss, including women with recurrent early fetal loss (n=34);Control:277 normal women										
122828	Y	placental vascular complications	HEMATOLOGICAL	HEM	Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Abruptio Placentae|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Camilleri, R. S.  et al. 2004	15091001				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Blood coagulation & fibrinolysis. 2004 Mar;15(2):139-47	-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications.		227400	21338	2	2004	These data suggest that factor V Leiden is associated with an increased risk of obstetric complications, but that the -455A allele of beta-fibrinogen, PGM and MTHFR do not appear to be implicated.	Control:100 parous women with no history of obstetric or medical complications;Case:147 women with obstetric complications associated with placental vascular disease										
122830		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	1	1q23	F5	167747815	167822393		Carlsson, L. E.  et al. 2003	12724616				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		227400	21340	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
122825		coronary artery disease	CARDIOVASCULAR	CARD	Intracranial Embolism|Cardiovascular Diseases|Coronary Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Wu, A. H.  et al. 2001	11397354				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			The American journal of cardiology. 2001 Jun;87(12):1361-6	Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases.		227400	21335	2	2001	This study shows that for some genes, further studies are unnecessary, whereas for others, no more enrollments are needed. The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies.	studies clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor 										
122826		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393			16324093				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Italy	CDC GDPinfo	2153	Hs.30054			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		227400	21336	2	2005												
122827		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	1	1q23	F5	167747815	167822393		Xenophontos, S. L.  et al. 2002	12518110				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Greek	Cyprus	CDC GDPinfo	2153	Hs.30054			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		227400	21337	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
122822		stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Hobson-Peters, J.  et al. 2005	16006096				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Molecular and cellular probes. 2005 Aug;19(4):290-7	A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations.		227400	21332	2	2005												
122823		fetal loss, late; pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Fetal Death|Thrombophilia	1	1q23	F5	167747815	167822393		Santoro, R.  et al. 2005	16170289				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Minerva ginecologica. 2005 Aug;57(4):447-50	[Prothrombotic gene mutations in women with recurrent abortions and intrauterine fetal death]		227400	21333	2	2005	 Our data suggest that the screening for the FVL and FII G20210A mutations is useful in the setting of unexplained early and late pregnancy loss. Further studies are necessary in order to clarify the real impact of prothrombotic molecular defects on the pregnancy outcome and then to evaluate the appropriate therapeutic approach.											
122824	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393			12615788				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		227400	21334	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
122819	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q23	F5	167747815	167822393		Gupta, N.  et al. 2003	14701945				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Indian	India	CDC GDPinfo	2153	Hs.30054			Indian journal of medical sciences. 2003 Dec;57(12):535-42	Absence of factor V leiden (G1691A) mutation, FII G20210A allele in coronary artery disease in North India		227400	21329	2	2003	 Our results indicate that both these polymorphisms were totally absent in our population, therefore, these variants cannot be considered as independent risk factors or as a predictor for CAD. However, there is a need to confirm the above findings on patients from different populations from different parts of the country as there are reports which show that the incidence of Factor V Leiden varies from 1.3 % to 10%.	Control:200 age and sex matched controls from north India;Case:200 angiographically proven coronary artery disease:patients North India										
122820	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Venous Thrombosis	1	1q23	F5	167747815	167822393		Meseguer, E.  et al. 2004	15088159				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Neurologia. 2004 Apr;19(3):99-105	[Prothrombotic factors in stroke]		227400	21330	2	2004	 This study suggests that prothrombin 20210A polymorphism may play a role in stroke under 60 years of age. Factor V Leiden does not seem to be related to stroke.	Control blood donors;Case:312 stroke cases, 73 were under 60 years										
122821		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications|Venous Thrombosis	1	1q23	F5	167747815	167822393		Samama, M. M.  et al. 2004	15918665				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Bull Acad Natl Med. 2004 ;188(8):1377-93; discussion 1393-6	[Pregnancy-associated venous thrombosis in women with hereditary heterozygous factor V Leiden and/or factor II gene mutations]		227400	21331	2	2004												
122816	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	1	1q23	F5	167747815	167822393		Volzke, H.  et al. 2004	12899665				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		227400	19395	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
122817		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	1	1q23	F5	167747815	167822393			16353042				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Kardiologiia. 2005 ;45(12):17-24	[Associations of Hemostasis Factors Genes With Early Development of Ischemic Heart Disease and Manifestation of Myocardial Infarction in Young Age.]		227400	19418	2	2005	 Thus we obtained data on the presence of independent association between IHD risk and manifestation of MI in young age with genotype TT of polymorphic marker C(-426)T of F5 gene as well as with traditional risk factors of IHD.											
122818		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Morgan, T. M.  et al. 2003	12791034				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Clinical genetics. 2003 Jul;64(1):17-Jul	Overestimation of genetic risks owing to small sample sizes in cardiovascular studies		227400	21328	2	2003	Despite research-based genotyping of over 50,000 subjects, the overall risk for myocardial infarction as a result of PLA2 and ACE D remains doubtful. Our study provides a clear example of how publication of underpowered studies can spuriously implicate polymorphisms as genetic risk factors.											
122814		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Wang, P. H.  et al. 2005	15921597				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Zhonghua liu xing bing xue za zhi. 2005 Jan;26(1):54-7	[Study on the significance and application of crossover analysis in assessing gene-environmental interaction]		227400	16599	2	2005	 Crossover analysis should further be applied in gene-environmental interaction studies.	Control:controls;Case venous thrombosis cases										
122815	Y	thromboembolism, venous; homocysteine; thromboembolism, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis	1	1q23	F5	167747815	167822393		Harrington, D. J.  et al. 2003	12747593				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):496-500	Genetic variations observed in arterial and venous thromboembolism--relevance for therapy, risk prevention and prognosis.		227400	16689	2	2003	factor V Leiden was found to be a risk factor in venous thrombosis, while the methylenetetrahydrofolate reductase C677T mutation was a significant variable in both venous and arterial thrombosis. In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the -455G/A beta-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.	Cohort 146/199/58 patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) North Western Russia 	vitamins									
122811		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Pongracz, E.  et al. 2003	12861956				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ideggyogy Sz. 2003 May;56(6-May):157-64	[Significance of Factor V gene A506G mutation (Leiden) in the pathogenesis of ischemic stroke]		227400	16588	2	2003	 When comparing stroke patients to control population there is no significant increase in the frequency of Leiden mutation. Leiden mutation together with hyperlipidaemia and stroke in the family history results in high risk for ischaemic stroke in young patients.	Control:171 healthy persons;Case:254 ischemic stroke patients										
122812	Y	myocardial infarct	CARDIOVASCULAR	CARD	Thrombosis|Activated Protein C Resistance	1	1q23	F5	167747815	167822393		Hudecek, J.  et al. 2003	14689680				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Slovakia	CDC GDPinfo	2153	Hs.30054			Vnitr Lek. 2003 Nov;49(11):845-50	[Factor V Leiden and the Slovak population]		227400	16591	2	2003	The authors therefore suppose an active role of the Leiden mutation of FV gene in the pathogenesis of this disease.	Cohort 152 healthy individuals Cohort 349 patients with thrombosis in anamnesis Slovak Republic in Europe Cohort 41 patients with myocardial infarction 										
122813		activated protein C resistance	UNKNOWN	UNK		1	1q23	F5	167747815	167822393		Gandrille, S.  et al. 2003	14711617				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Annales de biologie clinique. 2003 Nov-Dec;61(6):723-7	[In Process Citation]		227400	16592	2	2003	Finally, the Stagen factor V Leiden mutation is easy and rapid to use in hospital or private laboratories, and is well-suited for small series of patients of the latter.	Cohort 300 thrombophilic patients from a prospective cohort study 										
122808	N	thrombosis, cerebral venous	CARDIOVASCULAR	CARD	Cerebral Arterial Diseases|Venous Thrombosis	1	1q23	F5	167747815	167822393		Meng, Q.  et al. 2002	11953127				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Zhonghua yi xue za zhi. 2002 Jan;82(1):47-9	[Cerebral venous thrombosis and factor V Leiden mutation]		227400	16583	2	2002	 Factor V Leiden mutation is not a crucial risk factor of cerebral venous thrombosis.	Case:20 patients with cerebral venous thrombosis:China;Control:50 controls of Chinese origin										
122809	N	post myocardial infarction complications	UNKNOWN	UNK	Myocardial Infarction|Activated Protein C Resistance	1	1q23	F5	167747815	167822393		Baykan, M.  et al. 2001	12101832				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Turkey	CDC GDPinfo	2153	Hs.30054			Anadolu kardiyoloji dergisi. 2001 Dec;1(4):242-5; AXIV	[Effects of factor V Leiden mutations on prognosis in patients with acute myocardial infarction]		227400	16586	2	2001	 Post MI complications, including reinfarction, heart failure, angina pectoris and cardiac mortality were not increased in patients with factor V Leiden.	Cohort 122 patients with first acute myocardial infarction (aged 56 +/- 11, 82 men/40 women) 										
122810		activated protein C resistance	UNKNOWN	UNK	Pregnancy Complications, Hematologic|Venous Thrombosis|Activated Protein C Resistance	1	1q23	F5	167747815	167822393		Prochazka, M.  et al. 2002	12434659				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ceska Gynekol. 2002 Sep;67(5):251-4	[In Process Citation]		227400	16587	2	2002	 APC resistance and factor V. Leiden represent as important factors in the aetiology of deep venous thrombosis in pregnancy.	Case:33 women with confirmed deep venous thrombosis;Control:51 pregnant women, chosen rendomly										
122805	N	thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Hessner, M. J.  et al. 2000	11057878				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Caucasian		CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2000 Oct;84(4):724-5	The C536T transition in the tissue factor pathway inhibitor (TFPI) gene does not contribute to risk of venous thrombosis among carriers of factor V Leiden.		227400	16577	2	2000	A synergistic relationship between FVL and the TFPI 536C genotype was not observed in that the frequency between symptomatic and asymptomatic FVL carriers was not significantly different, nor was there a significant difference, collectively, between this group of Caucasian thrombotic individuals and asymptomatic individuals regardless of FVL status.	Cohort 482 unrelated individuals with a first or recurrent diagnosed venous thromboembolic event (FVL carriers n=225, and FVL-negative n=257) 								N		
122806	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	1	1q23	F5	167747815	167822393		Franco, R. F.  et al. 2000	11091190				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			British journal of haematology. 2000 Oct;111(1):118-21	Factor XIII Val34Leu and the risk of venous thromboembolism in factor V Leiden carriers.		227400	16578	2	2000	In conclusion, the impact of FXIII Val34Leu on the venous thromboembolic risk is modest, suggesting that screening for this mutation in factor V Leiden carriers is not justified.	Cohort 352 factor V Leiden carriers who were first-degree relatives of 132 thrombotic propositi 		factor XIII	Val34Leu	F5				N		venous thromboembolism
122807	Y	thrombophilia	HEMATOLOGICAL	HEM	Venous Thrombosis|Thrombophilia	1	1q23	F5	167747815	167822393		Papaian, L. P.  et al. 2001	11523408				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Ter Arkh. 2001 ;73(7):47-51	[Changes in hemostasis system in patients with hereditary thrombophilia caused by mutation of blood coagulation factor V ( factor V Leiden)]		227400	16581	2	2001	 Detection of signs of hypercoagulation in patients with inherited thrombophilia at recovery in carriers of Leyden's factor V without clinical manifestations of thrombosis shows it necessary to make a particularly careful monitoring of the hemostatic system in these subjects. This is especially important for hypercoagulation-predisposing situations, such as pregnancy, surgical interventions, long-term immobilization, use of contraceptives, etc. when preventive measures may be used to prevent thrombotic events.	Cohort 112 individuals (101 patients aged 15-69 years who had venous thrombosis and 10 individuals with mutation of Leyden's factor V without manifestations in the history of thrombosis) 										
122802		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Thrombosis|Venous Thrombosis	1	1q23	F5	167747815	167822393		Medina, P.  et al. 2005	16113830	4600A/G and 4678G/C			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 Aug;94(2):389-94	Influence of the 4600A/G and 4678G/C polymorphisms in the endothelial protein C receptor (EPCR) gene on the risk of venous thromboembolism in carriers of factor V Leiden.		227400	13349	2	2005												
122803	N	cerebral infarct	OTHER	OTH	Cerebral Infarction	1	1q23	F5	167747815	167822393		Petrovic, D.  et al. 2003	12859287				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Slovenia	CDC GDPinfo	2153	Hs.30054			Acta neurologica Scandinavica. 2003 Aug;108(2):109-13	Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.		227400	13661	2	2003	 The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.	Control:115 control subjects;Case:96 Slovene patients who suffered atherothrombotic cerebral infarction										
122804	N	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases	1	1q23	F5	167747815	167822393		Fox, C. S.  et al. 2004	14963283				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Massachusetts	CDC GDPinfo	2153	Hs.30054			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of Association Between Polymorphisms in the Hemostatic Factor Pathway Genes and Carotid Intimal Medial Thickness. The Framingham Heart Study		227400	13676	2	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort 										
122799	Y	thromboembolism, venous; protein C	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Scanavini, D.  et al. 2005	15735794				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2005 Mar;93(3):453-6	The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.		227400	10490	2	2005	Our findings point toward the presence of genetic determinant of coagulation factor levels with a biologically significant role, but with a poor predictive value to estimate thrombotic risk beyond established risk factors.	Control:145 healthy women;Case:150 thrombotic women										
122800		thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Penco, S.  et al. 2005	16266408				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Annals of human genetics. 2005 Nov;69(Pt 6):693-706	Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.		227400	10491	2	2005	 The findings of this study illustrate the power of ANN in evaluating multifactorial data, and show that the different sensitivities of the models of elaboration are related to the characteristics of the data. This may contribute to a better understanding of the role played by genetic polymorphisms in VTE, and help to define, if possible, a test panel of genetic variants to estimate an individual's probability of developing the disease.											
122801		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Donati, M. B.  et al. 2001	11926770				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Haematologica. 2001 Nov;86(11 Suppl 2):28-30	Genetic polymorphisms of clotting factors and coronary heart disease		227400	12035	2	2001	Review article											
122796	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction|Diabetic Angiopathies|Hypertension	1	1q23	F5	167747815	167822393		Petrovic, D.  et al. 2001	11334615	G1691A			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Slovenia	CDC GDPinfo	2153	Hs.30054			Ann Genet. 2001 Jan-Mar;44(1):33-6	Joint effect of G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism on the risk of premature coronary artery disease.		227400	10484	2	2001	In conclusion, we provide evidence for a joint effect on CAD risk between G1691A factor V point mutation and factor VII Arg/Gln(353) gene polymorphism as well as between factor V point mutation and metabolic risk factors.	Control:132 healthy subjects;Case:167 patients with coronary artery disease younger than 55 years old:Slovenia		G1691A	factor V point mutation	factor VII	Arg/Gln(353)			Y		premature coronary artery disease
122797	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Ameziane, N.  et al. 2002	12195688			intron	Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Thrombosis and haemostasis. 2002 Aug;88(2):195-9	The -33T-->C polymorphism in intron 7 of the TFPI gene influences the risk of venous thromboembolism, independently of the factor V Leiden and prothrombin mutations		227400	10486	2	2002	These results suggest that the CC genotype of the TFPI intron 7 polymorphism is an independent protective factor for venous thromboembolism, an effect probably mediated by increased TFPI levels.	Case:330 cases with venous thromboembolism;Control:826:controls		TFPI intron 7	CC					Y		venous thromboembolism
122798		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	1	1q23	F5	167747815	167822393		Xu, G.  et al. 2003	12579498				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		China	CDC GDPinfo	2153	Hs.30054			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):39-42	[Association of coagulation factor V,VII gene polymorphisms with coronary heart disease]		227400	10487	2	2003	 The Q allele of the R353Q polymorphism of the FVII gene may be a protective factor against myocardial infarction.	Control:210:controls;Case:234 Chinese Han coronary heart disease patients										
122792	N	ovarian hyperstimulation syndrome	METABOLIC	MET	Ovarian Hyperstimulation Syndrome|Thrombophilia	1	1q23	F5	167747815	167822393		Fabregues F 2004	15066453	F5 leiden			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054	thrombophilia		Fertility and sterility. 2004 Apr;81(4):989-95	Prevalence of thrombophilia in women with severe ovarian hyperstimulation syndrome and cost-effectiveness of screening.		227400	2508	1	2004												
122794	Y	recurrence and early onset of venous thrombosis	OTHER	OTH	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease|Recurrence	1	1q23	F5	167747815	167822393		Gemmati D et al. 2001	11684865				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Haemostasis. 2001 Mar-Apr;31(2):99-105	Coexistence of factor V G1691A and factor II G20210A gene mutations in a thrombotic family is associated with recurrence and early onset of venous thrombosis.		227400	2510	1	2001												
122795	N	acute coronary events	CARDIOVASCULAR	CARD	Coronary Disease|Acute Disease	1	1q23	F5	167747815	167822393	n	Ameziane N et al. 2001	11307836				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Thrombosis and haemostasis. 2001 Mar;85(3):566-7	No association between the R2 factor V gene and acute coronary events.		227400	2511	1	2001												
122789	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1q23	F5	167747815	167822393		Hefler L 2004	14706682	Leiden			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		227400	2505	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122790	N	intimal medial thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases	1	1q23	F5	167747815	167822393		Fox CS 2004	14963283	Leiden			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Massachusetts	KGB	2153	Hs.30054			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of association between polymorphisms in the hemostatic factor pathway genes and carotid intimal medial thickness: the Framingham Heart Study.		227400	2506	1	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort										
122791		Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Thrombosis|Hypereosinophilic Syndrome	1	1q23	F5	167747815	167822393		Engelmann MG 2004	15026880				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Angiology. 2004 Mar-Apr;55(2):221-5	Hypereosinophilic syndrome associated with heterozygous factor V gene mutation: an unusual combination resulting in an acute coronary syndrome and recurrent cerebral stroke-a case report.		227400	2507	1	2004												
122787	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	1	1q23	F5	167747815	167822393		Volzke H 2004	12899665	Leiden 1691 G/A,			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		227400	2503	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
122788	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1q23	F5	167747815	167822393		Hefler L 2004	14706682	H1299R			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		227400	2504	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122783		recurrent abortions	OTHER	OTH	Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	1	1q23	F5	167747815	167822393		Pauer HU 2003	12956845				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Germany	KGB	2153	Hs.30054			Acta obstetricia et gynecologica Scandinavica. 2003 Oct;82(10):942-7	Analyzes of three common thrombophilic gene mutations in German women with recurrent abortions.		227400	2499	1	2003	 The results of the present study reveal no relationship between these common three thrombophilic mutations and recurrent abortions for the German population, and further studies are essentially recommended on whether a thrombophilia evaluation should be performed in patients with recurrent abortions.											
122785		Perthes' disease	OTHER	OTH	Legg-Perthes Disease|Activated Protein C Resistance	1	1q23	F5	167747815	167822393		Szepesi K 2004	15125132				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			The Journal of bone and joint surgery  British volume. 2004 Apr;86(3):426-9	The most severe forms of Perthes' disease associated with the homozygous Factor V Leiden mutation.		227400	2501	1	2004												
122786		thrombotic diseases	OTHER	OTH	Thrombosis	1	1q23	F5	167747815	167822393		Herrmann FH 2004	14689519				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Indian	Costa Rica	KGB	2153	Hs.30054			American journal of human biology. 2004 Jan-Feb;16(1):82-6	Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.		227400	2502	1	2004												
122780		Recurrent deep-vein thrombosis	OTHER	OTH	Venous Thrombosis|Activated Protein C Resistance|Recurrence	1	1q23	F5	167747815	167822393		Willems M 2003	12884202				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054	liver transplantation		Liver transplantation. 2003 Aug;9(8):870-3	Recurrent deep-vein thrombosis based on homozygous factor V Leiden mutation acquired after liver transplantation.		227400	2496	1	2003												
122781		deficiency of coagulation factor V	OTHER	OTH	Factor V Deficiency|Hemorrhage	1	1q23	F5	167747815	167822393		Montefusco MC 2003	12816860				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Blood. 2003 Nov;102(9):3210-6	Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.		227400	2497	1	2003												
122782		chronic hepatitis C virus infection.	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	1	1q23	F5	167747815	167822393		Wright M 2003	12865283				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Gut. 2003 Aug;52(8):1206-10	Factor V Leiden polymorphism and the rate of fibrosis development in chronic hepatitis C virus infection.		227400	2498	1	2003	 Possession of the factor V Leiden polymorphism significantly increases the risk of rapid disease progression in HCV, suggesting a role for the coagulation system in the pathogenesis of fibrotic liver disease.											
122777	N	acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q23	F5	167747815	167822393	n	Ranjith N 2003	14523329				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	young indian asian	India	KGB	2153	Hs.30054			Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction.		227400	2493	1	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
122778		natural menopause.	OTHER	OTH		1	1q23	F5	167747815	167822393		van Asselt KM 2003	14501610				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Menopause (New York, NY). 2003 Sep-Oct;10(5):477-81	Factor V Leiden mutation accelerates the onset of natural menopause.		227400	2494	1	2003	 We found that the factor V Leiden mutation was related, but not statistically significant, to an earlier age at menopause; smoking possibly enhances this effect. The mutation can be one of the genetic determinants of menopausal age operating through a vascular mechanism.											
122774	N	thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V	OTHER	OTH	Retinal Vein Occlusion	1	1q23	F5	167747815	167822393	n	Raguenes O et al. 1996	8685200				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Presse Med. 1996 Mar;25(9):460	1691 G to A mutation of the factor V gene: no association with thrombosis of the central retinal vein trans Mutation 1691 g-->a du gene du facteur V: pas d'association avec les thromboses de la veine centrale de la retine.		227400	2490	1	1996												
122775	Y	thrombosis and resistance to activated protein C	OTHER	OTH	Thrombosis|Activated Protein C Resistance	1	1q23	F5	167747815	167822393		Mumford AD 2003	14617013				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			British journal of haematology. 2003 Nov;123(3):496-501	Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C.		227400	2491	1	2003												
122776		Pregnancy-associated venous thromboembolism	OTHER	OTH	Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis	1	1q23	F5	167747815	167822393		Samama MM 2003	14531916				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			British journal of haematology. 2003 Oct;123(2):327-34	Pregnancy-associated venous thromboembolism (VTE) in combined heterozygous factor V Leiden (FVL) and prothrombin (FII) 20210 A mutation and in heterozygous FII single gene mutation alone.		227400	2492	1	2003												
122771	Y	delayed graft function acute rejection episodes and long-term graft dysfunction	OTHER	OTH	Proteinuria|Thrombosis|Activated Protein C Resistance|Acute Disease|Genetic Predisposition to Disease|Postoperative Complications	1	1q23	F5	167747815	167822393		Hocher B et al. 2002	11858477				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Thrombosis and haemostasis. 2002 Feb;87(2):194-8	Association of factor V Leiden mutation with delayed graft function acute rejection episodes and long-term graft dysfunction in kidney transplant recipients.		227400	2487	1	2002												
122772		preeclampsia	OTHER	OTH	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Watanabe H et al. 2002	11950065				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Japanese	Japan	KGB	2153	Hs.30054			Journal of human genetics. 2002 ;47(3):131-5	Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese women.		227400	2488	1	2002												
122773	N	hemochromatosis	METABOLIC	MET	Hemochromatosis	1	1q23	F5	167747815	167822393	n	Le Marechal C et al. 1999	10383194				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Blood. 1999 Jun;93(11):4024-5	No association between factor V Leiden and C282Y mutation in the hereditary hemochromatosis gene.		227400	2489	1	1999												
122767	Y	hereditary thrombophilia.	OTHER	OTH	Thrombophilia	1	1q23	F5	167747815	167822393		Linfert DR et al. 1998	9785636				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Connecticut medicine. 1998 Sep;62(9):519-25	Rapid multiplex analysis for the factor V Leiden and prothrombin G20210A mutations associated with hereditary thrombophilia.		227400	2483	1	1998												
122768		factor V levels	HEMATOLOGICAL	HEM	Thrombosis	1	1q23	F5	167747815	167822393		Lunghi B et al. 1996	8713778				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Thrombosis and haemostasis. 1996 Jan;75(1):45-8	Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma.		227400	2484	1	1996												
122769	Y	factor V Leiden	HEMATOLOGICAL	HEM	Protein C Deficiency|Blood Protein Disorders|Protein C Deficiency	1	1q23	F5	167747815	167822393		Castaman G et al. 1997	9375735			coding sequence	Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	thrombotic family		KGB	2153	Hs.30054			British journal of haematology. 1997 Nov;99(2):257-61	Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V.		227400	2485	1	1997												
122764	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	1	1p22-p21	F3	94767460	94779903		Welsby, I. J.  et al. 2005	15892865				Coagulation factor III (thromboplastin, tissue factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001993.2			CDC GDPinfo	2152	Hs.62192			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		134390	24389	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
122765	Y	Vascular Disease	CARDIOVASCULAR	CARD	Vascular Diseases	1	1q23	F5	167747815	167822393		Hessner MJ 2001	11568114	G169A Leiden			Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Caucasian		TJB	2153	Hs.30054			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		227400	2481	1	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors										
122766	Y	reduced intrapartum blood loss--a possible evolutionary selection mechanism	OTHER	OTH	Fetal Growth Retardation|Pre-Eclampsia|Postpartum Hemorrhage|Blood Coagulation Disorders	1	1q23	F5	167747815	167822393		Lindqvist PG et al. 1998	9459326				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Thrombosis and haemostasis. 1998 Jan;79(1):69-73	Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism.		227400	2482	1	1998	 The remarkably high prevalence of the potentially harmful factor V gene mutation in the general population may be the result of an evolutionary selection mechanism conferring such survival advantages as reduction in the risk of intrapartum bleeding on carriers of the FV:Q506 allele.											
122761		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	11	11p11-q12	F2	46697330	46717631		Zee, R. Y.  et al. 2002	12082592				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		176930	28480	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
122762	Y	platelet receptor density and the response to SFLLRN	OTHER	OTH		5	5q13	F2R	22931881	22934295		Dupont A et al. 2003	12406873			intron	coagulation factor II (thrombin) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001992			KGB	2149	Hs.612027			Blood. 2003 Mar;101(5):1833-40	An intronic polymorphism in the PAR-1 gene is associated with platelet receptor density and the response to SFLLRN.		187930	2480	1	2003												
122763	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Thrombosis|Acute Disease|Genetic Predisposition to Disease	1	1p22-p21	F3	94767460	94779903		Malarstig, A.  et al. 2005	16239598				Coagulation factor III (thromboplastin, tissue factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001993.2			CDC GDPinfo	2152	Hs.62192			Arteriosclerosis, thrombosis, and vascular biology. 2005 Dec;25(12):2667-72	Genetic variations in the tissue factor gene are associated with clinical outcome in acute coronary syndrome and expression levels in human monocytes.		134390	16576	2	2005	 The 5466 AG genotype is a novel predictor of cardiovascular death in ACS and may act through a high TF response.											
122758		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Hefler, L.  et al. 2004	14706682				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		176930	25988	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122759		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11p11-q12	F2	46697330	46717631		Pallaud, C.  et al. 2001	11359462				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		176930	27711	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
122760		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	11	11p11-q12	F2	46697330	46717631		Pallaud, C.  et al. 2001	11341749				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		France|Italy	CDC GDPinfo	2147	Hs.410092			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		176930	28042	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
122755		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	11	11p11-q12	F2	46697330	46717631		De Maat, M. P.  et al. 2004	15333035				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes		176930	24388	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
122756		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Adams, G. T.  et al. 2003	12871600				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		176930	25986	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
122757		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Casas, J. P.  et al. 2004	15534175				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		176930	25987	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
122752		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	11	11p11-q12	F2	46697330	46717631		McCarthy, J. J.  et al. 2003	14557872				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		176930	24385	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
122753		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	11	11p11-q12	F2	46697330	46717631		Tempfer, C. B.  et al. 2004	15120696				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		176930	24386	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
122754		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	11	11p11-q12	F2	46697330	46717631		Ozbek, N.  et al. 2005	15831156				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		176930	24387	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
122749	N	cancer; thromboembolism, venous	CANCER	CAN	Neoplasms|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Ramacciotti, E.  et al. 2003	12757770				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Thrombosis research. 2003 Feb;109(4):171-4	Prevalence of factor V Leiden, FII G20210A, FXIII Val34Leu and MTHFR C677T polymorphisms in cancer patients with and without venous thrombosis		176930	21326	2	2003	The present data do not point to an association between the four polymorphisms here investigated and the risk of VTE in cancer patients.	Cohort 211 unrelated and unselected patients (M/F ratio 0.5, mean age 57 years, range 12-91 years) with a diagnosis of cancer Sao Paulo, Brazil 										
122750		intrauterine growth retardation	REPRODUCTION	REP	Fetal Growth Retardation	11	11p11-q12	F2	46697330	46717631		Infante-Rivard, C.  et al. 2005	16192348				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Canada	CDC GDPinfo	2147	Hs.410092			American journal of epidemiology. 2005 Nov;162(9):891-7	Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns		176930	21327	2	2005												
122751		menopause	REPRODUCTION	REP	Thrombophilia	11	11p11-q12	F2	46697330	46717631		Tempfer, C. B.  et al. 2005	15879922				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		176930	24384	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
122746		varicose ulcers	UNKNOWN	UNK	Varicose Ulcer|Chronic Disease|Disease Progression	11	11p11-q12	F2	46697330	46717631		Gemmati, D.  et al. 2004	15453833				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Wound repair and regeneration. 2004 Sep-Oct;12(5):512-7	Factor XIII V34L polymorphism modulates the risk of chronic venous leg ulcer progression and extension.		176930	21323	2	2004	We conclude that  FXIII antigen levels and FXIII V34L polymorphism may play a crucial role in the complex cascade of CVU pathophysiology, being significantly related to the CVU progression and extension because of the direct effects they have on the FXIII molecular activity.	Control:195 healthy controls (91 of them sex- and age-matched);Case:91 chronic venous leg ulcer patients										
122747		birth weight; preterm delivery	REPRODUCTION	REP	Premature Birth	11	11p11-q12	F2	46697330	46717631		Hartel, C.  et al. 2005	16113789				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Thrombosis and haemostasis. 2005 Jul;94(1):88-92	Polymorphisms of haemostasis genes as risk factors for preterm delivery.		176930	21324	2	2005												
122748		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	11	11p11-q12	F2	46697330	46717631		Rubattu, S.  et al. 2005	15968394				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Italy	CDC GDPinfo	2147	Hs.410092			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		176930	21325	2	2005												
122743	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Grossmann, R.  et al. 2002	12439143				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Blood coagulation & fibrinolysis. 2002 Oct;13(7):583-90	Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease		176930	21320	2	2002	In conclusion, in younger adults the FVL mutation is a risk factor for cerebrovascular disease. FIIM, the MTHFR TT677 genotype and the CBS 844ins68 mutation did not contribute to the risk in this group of patients. The EPCR 4031ins23 mutation is very rare, its possible role needs further investigation.	Control:186 healthy age-matched and sex-matched blood donors;Case:93 patients younger than 50 years old with thromboembolic strokes or transient ischemic:attacks										
122744		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	11	11p11-q12	F2	46697330	46717631		Weger, M.  et al. 2005	16157382				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		176930	21321	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
122745	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Butt, C.  et al. 2002	12480694				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Newfoundland	CDC GDPinfo	2147	Hs.410092			Blood. 2003 Apr;101(8):3037-41	Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-geneinteraction.		176930	21322	2	2002	Based on our data, 1) the FII 20210A allele is a risk factor for MI, possibly important for early onset; 2) FVL may predispose for early onset MI; 3) the FXIII-A L34 allele predisposes for MI in males only; however, 4) interaction between the FII 20210A and FXIII-A L34 alleles form a synergistic co-effect which strongly predisposes for MI, placing combined carriers at high risk for MI.	Case:500 myocardial infarct patients:Newfoundland;Control:500:controls										
122740		longevity	CARDIOVASCULAR	CARD	Vascular Diseases	11	11p11-q12	F2	46697330	46717631		Hessner, M. J.  et al. 2001	11568114				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		176930	21317	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
122741		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	11	11p11-q12	F2	46697330	46717631		Austin, H.  et al. 2002	12468767				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		United States	CDC GDPinfo	2147	Hs.410092			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		176930	21318	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
122742		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Shaw, G. M.  et al. 2005	16100725				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		California	CDC GDPinfo	2147	Hs.410092			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		176930	21319	2	2005			smoking (tobacco), maternal									
122737	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	11	11p11-q12	F2	46697330	46717631		Welsby, I. J.  et al. 2005	15892865				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		176930	21314	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
122738		stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Chen, J.  et al. 2001	11718065				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		China	CDC GDPinfo	2147	Hs.410092			Zhonghua liu xing bing xue za zhi. 2001 Aug;22(4):273-6	A study of relationship between oral contraceptives and gene polymorphism and types of stroke		176930	21315	2	2001	 The results suggested that possible association existed between the use of COC and the onset of hemorrhagic stroke, however the mutations of G1691-->A in factor V gene, G20210-->A in prothrombin gene and I/D polymorphism of ACE gene did not seem to contribute to this association.	Case:111 female patients with stroke were selected and with questionnaires filled in and blood samples:collected										
122739		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	11	11p11-q12	F2	46697330	46717631		Pongracz, E.  et al. 2002	12122980				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Europe|Hungary	CDC GDPinfo	2147	Hs.410092			Ideggyogy Sz. 2002 Mar;55(4-Mar):111-7	[Genetics of blood coagulation in young stroke patients]		176930	21316	2	2002	 Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.	Control:173 healthy blood donors;Case:253 patients with stroke										
122734		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombosis	11	11p11-q12	F2	46697330	46717631		Krause, M.  et al. 2005	15886801				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Caucasian		CDC GDPinfo	2147	Hs.410092			Thrombosis and haemostasis. 2005 May;93(5):867-71	Lipoprotein (a) and other prothrombotic risk factors in Caucasian women with unexplained recurrent miscarriage. Results of a multicentre case-control study.		176930	19411	2	2005	Upon univariate analysis the heterozygous FV mutation, Lp(a) > 30 mg/dL, increased APA/ACA and BMI > 25 kg/m(2) in combination with a prothrombotic risk factor were found to be significantly associated with uRM. In multivariate	Control:133 age-matched healthy controls;Case:133 Caucasian women aged 17-40 years (median 29 years) suffering from unexplained recurrent miscarriage:1998 - 2003										
122735		pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Glueck, C. J.  et al. 2005	16154434				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Metabolism:  clinical and experimental. 2005 Oct;54(10):1345-9	The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity:etiologies for sporadic miscarriage.		176930	19416	2	2005												
122736		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Activated Protein C Resistance|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Matyskova, M.  et al. 2002	11998221				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Cas Lek Cesk. 2002 Mar;141(5):146-51	[ABO/H blood groups and factor V Leiden]		176930	21313	2	2002	 There is a 1.76 times higher thrombosis risk (1/0.5697 = 1.76) in factor V Leiden carriers with blood group non-0 compared to blood group 0. The ProC Global mean values differ in patients with blood group 0 and in non-0 persons.	Control:controls;Case individuals with thrombophilia										
122731		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Thrombosis|Hypertension|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		D'Aniello, G.  et al. 2003	14508198				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of hypertension. 2003 Oct;21(10):1915-20	The search for thrombophilic gene mutations in women with gestational hypertension does not help in predicting poor pregnancy outcome.		176930	19396	2	2003	 Only Factor II:C activity levels, uterine arterial Doppler and a history of familial hypertension are useful in predicting poor pregnancy outcome in gestational hypertension.	Cohort 59 women with gestational hypertension were prospectively tested between 24 and 26 weeks of gestation 										
122732	Y	polycystic ovary syndrome; pregnancy loss, recurrent	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Blood Coagulation Disorders|Hyperinsulinism|Insulin Resistance|Recurrence|Body Weight	11	11p11-q12	F2	46697330	46717631		Glueck, C. J.  et al. 2003	14669168				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Metabolism:  clinical and experimental. 2003 Dec;52(12):1627-32	Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrentpregnancy loss.		176930	19401	2	2003	The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.	Control:116 healthy Caucasian females;Case:33/16 Caucasian women referred for diagnosis and treatment of polycystic ovary syndrome (PCOS) subsequently found to have recurrent pregnancy loss (n=33) and women referred for recurrent pregnancy loss but no PCOS (n=16)										
122733		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Disease Progression	11	11p11-q12	F2	46697330	46717631		Gerhardt, A.  et al. 2005	15842353				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of thrombosis and haemostasis. 2005 Apr;3(4):686-91	The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia.		176930	19410	2	2005	Hereditary risk factors for venous thrombosis do not predispose for severe preeclampsia. However, women who are carriers of the G20210A prothrombin gene mutation and the PAI-1 5G/5G genotype are at risk for early onset of severe preeclampsia. It appears that these risk factors do not induce the pathomechanism but accelerate the course of preeclampsia.	Control:277 normal women;Case:97 women with a history of preeclampsia;Case:97 women with evere preeclampsia in previous:pregnancies										
122728		thromboembolism, venous	CARDIOVASCULAR	CARD		11	11p11-q12	F2	46697330	46717631		Ray, J. G.  et al. 2001	11806787				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Current controlled trials in cardiovascular medicine. 2001 ;2(3):141-149	Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factorsfor venous thromboembolism in women.		176930	18418	2	2001	 Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.	Control Age-matched control women who were free of venous:thrombosis;Case:129 women aged 16-79 years with objectively confirmed:VTE										
122729	Y	antiphospholipid syndrome	IMMUNE	IMM	Thrombophilia|Antiphospholipid Syndrome	11	11p11-q12	F2	46697330	46717631		Forastiero, R.  et al. 2001	11454529				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Haematologica. 2001 Jul;86(7):735-41	The combination of thrombophilic genotypes is associated with definite antiphospholipid syndrome.		176930	19383	2	2001	 Present data indicate that testing for heritable thrombophilia would be important to identify aPL subjects with an increased risk of developing APS.	Case:105 consecutive unselected patients with antiphospholipid antibodies grouped as having antiphospholipid syndrome (n= 69) and not having antiphospholipid syndrome (n= 36);Control:200 healthy subjects		MTHFR	677TT	PT	20210A	PAI-1	(4G/4G)	Y		antiphospholipid syndrome
122730		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Varela, M. L.  et al. 2001	11738073				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Thrombosis research. 2001 Dec;104(5):317-24	Major and potential prothrombotic genotypes in a cohort of patients with venous thromboembolism.		176930	19386	2	2001	We conclude that  FVL and the PT-20210A are risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms do not appear to be associated with VT in our country.	Case:192 consecutive unrelated patients referred for evaluation of thrombophilia because of VT;Control:200 healthy controls										
122725	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11p11-q12	F2	46697330	46717631		Boekholdt, S. M.  et al. 2001	11748101				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Circulation. 2001 Dec;104(25):3063-8	Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review.		176930	16701	2	2001	 Associations between these genetic variations and myocardial infarction were weak or absent. In the absence of clinical implications, our results indicate that screening of patients with myocardial infarction for these genetic variations is not warranted.											
122726		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631			16324093				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Italy	CDC GDPinfo	2147	Hs.410092			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		176930	17726	2	2005												
122727	N	preeclampsia; hypertension, gestational	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Hematologic|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Morrison, E. R.  et al. 2002	12038776				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Thrombosis and haemostasis. 2002 May;87(5):779-85	Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: resultsfrom a large population-based study and systematic review.		176930	17857	2	2002	We conclude that  these prothrombotic genotypes are not associated with the development of PE or GH in our population. The systematic review supports our conclusion, for all but cases of severe disease. which appear to be associated with FVL and, to a lesser extent, MTHFR C677T. There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension.	Control:303/164 women with gestational hypertension (n=303), and control women (n=164);Case:404 women who developed preeclampsia										
122721		stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD		11	11p11-q12	F2	46697330	46717631		Hobson-Peters, J.  et al. 2005	16006096				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Molecular and cellular probes. 2005 Aug;19(4):290-7	A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations.		176930	16600	2	2005												
122722		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Almawi, W. Y.  et al. 2005	16082606				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of thrombosis and thrombolysis. 2005 Jun;19(3):189-96	A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis.		176930	16601	2	2005	 This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT.			F5		PRT	G20210A	MTHFR	C677T	Y		deep venous thrombosis
122724	Y	stroke, ischemic; cerebrovascular disease; thrombosis, arterial	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Antiphospholipid Syndrome	11	11p11-q12	F2	46697330	46717631			16320685				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Ter Arkh. 2005 ;77(10):49-53	[Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome]		176930	16603	2	2005	 It is suggested that mutations studied do not play a significant role in development of cerebral and systemic thrombosis in patients with PAPS. The leading role belongs to antiphospholipid antibodies (aPL). Sometimes these mutations may protect from thrombogenic aPL action. This could underlie less frequent development of recurrent ischemic stroke in patients with mutation.											
122718		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Chuansumrit, A.  et al. 2004	15691154	Arg306--Thr and low factor V Arg306->Gly			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Thai	Thailand	CDC GDPinfo	2147	Hs.410092			The Southeast Asian journal of tropical medicine and public health. 2004 Jun;35(2):450-2	Absence of factor V Arg306--Thr and low factor V Arg306->Gly mutation prevalence in Thai blood donors.		176930	16596	2	2004	The low prevalence of factor V gene mutations in the codon Arg 306 may be relevant to the low rate of thrombosis among the Thai population.	Case:30 Thai children (boys 20, girls 10) experiencing a total of 36 thrombotic episodes;Control:500 healthy Thai adult voluntary blood donors (males 285, females 215)										
122719	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631			15790048				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Vojnosanitetski pregled  Military-medical and pharmaceutical review. 2005 Mar;62(3):201-5	[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]		176930	16597	2	2005	 Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.	Cohort 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium 										
122720		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Samama, M. M.  et al. 2004	15918665				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Bull Acad Natl Med. 2004 ;188(8):1377-93; discussion 1393-6	[Pregnancy-associated venous thrombosis in women with hereditary heterozygous factor V Leiden and/or factor II gene mutations]		176930	16598	2	2004				F5	heterozygous	factor II				Y		venous thromboembolism
122715		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Meseguer, E.  et al. 2004	15088159				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Neurologia. 2004 Apr;19(3):99-105	[Prothrombotic factors in stroke]		176930	16593	2	2004	 This study suggests that prothrombin 20210A polymorphism may play a role in stroke under 60 years of age. Factor V Leiden does not seem to be related to stroke.	Control blood donors;Case:312 stroke cases, 73 were under 60 years										
122716		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	11	11p11-q12	F2	46697330	46717631		Moutereau, S.  et al. 2004	15146467				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Human mutation. 2004 Jun;23(6):621-8	An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.		176930	16594	2	2004	Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense. Hum Mutat											
122717		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	11	11p11-q12	F2	46697330	46717631		Driul, L.  et al. 2004	15531855				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Minerva ginecologica. 2004 Oct;56(5):385-90	[Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flowvelocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase]		176930	16595	2	2004	 We demonstrated the important association between FV Leiden mutation, abnormal uterine artery Doppler flow velocimetry at 24 weeks and pre-eclampsia in our low-risk population.	Case women with preeclampsia;Control patients with normal pregnancies										
122712		pregnancy complications	REPRODUCTION	REP	Pregnancy Complications, Hematologic|Blood Coagulation Disorders	11	11p11-q12	F2	46697330	46717631		Arcadia, P.  et al. 2002	11828266				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Minerva ginecologica. 2002 Feb;54(1):13-Sep	[Genetic mutations, acquired coagulation system disorders and obstetric pathology. Personal experience]		176930	16582	2	2002	 It is important to evaluate the hemocoagulation patterns in women with a history of complicated pregnancies.	Control:36 pregnancies without complications;Case:63 patients with pregnancy complications										
122713		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Activated Protein C Resistance|Protein C Deficiency|Protein S Deficiency	11	11p11-q12	F2	46697330	46717631		Prochazka, M.  et al. 2003	12879654				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Ceska Gynekol. 2003 May;68(3):162-6	[Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia]		176930	16589	2	2003	 We didn't find any difference in the prevalence of genetic mutations in patients with preeclampsia compared to the control group. The prevalence of APC resistance was statistically higher in preeclamptic patients compared to the control group.	Case:38 women with confirmed diagnosis of preeclampsia;Control:50 women, chosen randomly										
122714		thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631			14669613				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Ter Arkh. 2003 ;75(10):78-80	[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis]		176930	16590	2	2003	 Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.	Cohort 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery) 										
122709		stroke	CARDIOVASCULAR	CARD		11	11p11-q12	F2	46697330	46717631		Chang, J.  et al. 2005	15952132				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Chinese		CDC GDPinfo	2147	Hs.410092			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):341-3	[Frequency of prothrombin gene G20210A variant in the 3'-untranslated region in Zhuang ethnic Chinese]		176930	16575	2	2005	 Factor II gene 3'-UT G20210A mutant allele is absent in the 99 Chinese Zhuang ethnic patients with ischemic stroke and myocardial infarction and is absent in 106 normal healthy Zhuang people. FII G20210A mutation may not be a major risk factor for thrombogenesis in ethnic Chinese.											
122710		thrombosis	CARDIOVASCULAR	CARD	Budd-Chiari Syndrome|Venous Thrombosis|Budd-Chiari Syndrome|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Heller, C.  et al. 2000	11122096				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			British journal of haematology. 2000 Nov;111(2):534-9	Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - amulticentre case-control study. For the Childhood Thrombophilia Study Group.		176930	16579	2	2000	The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy.	Control:100 age- and sex-matched healthy controls;Case:65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10)										
122711	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Thrombophilia|Recurrence	11	11p11-q12	F2	46697330	46717631		Bykowska, K.  et al. 2000	11434083				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Polish	Poland	CDC GDPinfo	2147	Hs.410092			Pol Arch Med Wewn. 2000 Nov;104(5):729-33	[Prevalence of G20210A prothrombin gene mutation in Poland]		176930	16580	2	2000	Our results indicate that the presence of the 20210A allele is a mild risk factor for venous thrombosis if not associated with other	Case:323 subjects with venous thromboembolism before the age of 45, recurrent VTE or thrombosis in an unusual:site.;Control:399 healthy individuals		PT	20210A	factor V Leiden mutation		MTHFR	homozygous C677T mutation	Y	age < 45 years	venous thromboembolism
122705	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Thrombophilia|Syndrome|Recurrence	11	11p11-q12	F2	46697330	46717631		Marcucci, R.  et al. 2005	15994914				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Heart    2005	PAI-1 and homocysteine, but not lipoprotein (a) nor thrombophilic polymorphism, are associated with the occurrence of major adverse cardiac events after successful coronary stenting.		176930	13704	2	2005	 Increased PAI-1 and homocysteine concentrations are independent risk factors for MACE after successful coronary stenting, whereas Lp(a) and thrombophilic polymorphisms are not predictive.											
122706		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	11	11p11-q12	F2	46697330	46717631		Mansilha, A.  et al. 2005	16061406				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			European journal of vascular and endovascular surgery. 2005 Nov;30(5):545-9	Genetic polymorphisms and risk of recurrent deep venous thrombosis in young people: prospectivecohort study.		176930	13706	2	2005	 In this study, the risk of recurrent deep venous thrombosis in young people was not related with the presence of FV G1691A, FII G20210A, MTHFR C677T or PAI-1 4G/5G polymorphisms.											
122708	N	stroke	CARDIOVASCULAR	CARD	Brain Infarction|Ischemic Attack, Transient	11	11p11-q12	F2	46697330	46717631		Chang, J. H.  et al. 2000	12212242				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Chinese		CDC GDPinfo	2147	Hs.410092			Hunan yi ke da xue xue bao. 2000 Feb;25(1):36-8	[Frequency of prothrombin gene G20210A variant in the 3'-untranslated region in Chinese people with ischemic stroke]		176930	16574	2	2000	 Factor II gene 3'-UT G20210A mutant allele is absent in Chinese patients with ischemic stroke and normal subjects; its mutation may not be a major risk factor for thrombogenesis in Chinese people.	Control:46 healthy Chinese people;Case:49 Chinese patients with thrombosis										
122702		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Meglic, L.  et al. 2003	14597244				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			European journal of obstetrics, gynecology, and reproductive biology. 2003 Dec;111(2):157-63	Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism.		176930	13667	2	2003	 Women with pregnancy-related venous thromboembolism have an increased prevalence of inheritable thrombophilic defects predisposing them to an increased risk of thrombosis.	Case:30 women with a history of objectively confirmed venous thromboembolism during pregnancy or the:puerperium;Control:56 women with normal pregnancies										
122703	Y	stroke	CARDIOVASCULAR	CARD	Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Patnaik, M.  et al. 2004	15096570				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			The Journal of molecular diagnostics. 2004 May;6(2):137-44	Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay.		176930	13679	2	2004	The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods.	Cohort 1,448 tested genotypes 										
122704		pregnancy loss, recurrent	REPRODUCTION	REP	Infertility, Female|Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Wolf, C. E.  et al. 2003	15170393				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Pathophysiology of haemostasis and thrombosis. 2003 May-Jun;33(3):134-7	Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor.		176930	13682	2	2003	9/49 women with RPL showed coagulation disorders with heterozygous FV Leiden mutation (5), FXII (1), protein C (1) or protein S (2) deficiency. However, due to the small number of patients studied, no definite conclusion can be drawn.	Control:controls;Case:49/32 women with at least 2 unexplained early abortions (n=49) and women with infertility (n=32)										
122699	Y	hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Rudack, C.  et al. 2004	15109703	GPIaC807T			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		176930	13146	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
122700		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	11	11p11-q12	F2	46697330	46717631		Xenophontos, S. L.  et al. 2002	12518110				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Greek	Cyprus	CDC GDPinfo	2147	Hs.410092			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		176930	13649	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
122701		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Jastrzebska, M.  et al. 2003	14592559			5'promoter	Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032854		Poland	CDC GDPinfo	2244	Hs.300774			Thrombosis research. 2003 Jun;110(6-May):339-44	Relationships between fibrinogen, plasminogen activator inhibitor-1, and their gene polymorphisms in current smokers with essential hypertension.		134830	13666	2	2003	 Smoking potentiates the prothrombotic effect of allele A455 and PAI-1 4G/4G genotype in untreated essential hypertension, reflected by increased levels of haemostatic risk factors and accelerated progression of cardiovascular diseases.	Control:40 controls (including 8 smokers);Case:90 patients (including 30 smokers) with essential:hypertension	smoking (tobacco)	FGB	G455A	PAI-1	4G/4G			Y	smoking (tobacco)	hypertension and cardiovascular disease
122696		coronary artery disease	CARDIOVASCULAR	CARD	Intracranial Embolism|Cardiovascular Diseases|Coronary Thrombosis|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Wu, A. H.  et al. 2001	11397354				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			The American journal of cardiology. 2001 Jun;87(12):1361-6	Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases.		176930	12030	2	2001	This study shows that for some genes, further studies are unnecessary, whereas for others, no more enrollments are needed. The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies.	studies clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor 										
122697	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	11	11p11-q12	F2	46697330	46717631		Hohlagschwandtner, M.  et al. 2003	12738509				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Fertility and sterility. 2003 May;79(5):1141-8	Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage.		176930	12038	2	2003	Our data fall short of showing any significant association between single polymorphisms of the MTHFR, the Factor V Leiden, the Factor II Prothrombin, the HPA 1 and APO B genes or combinations of these polymorphisms and the occurrence of IRM.	Control:101 healthy postmenopausal women with at least two live births and no history of pregnancy loss;Case:145 women with a history of three or more consecutive pregnancy losses before 20 weeks gestation								N		
122698		lymphoproliferative disorders	OTHER	OTH	Coronary Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera|Genetic Predisposition to Disease|Hemorrhage	11	11p11-q12	F2	46697330	46717631		Afshar-Kharghan, V.  et al. 2004	15166939				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Blood coagulation & fibrinolysis. 2004 Jan;15(1):21-4	Hemostatic gene polymorphisms and the prevalence of thrombotic complications in polycythemia vera and essential thrombocythemia		176930	12047	2	2004	In view of previous studies linking the presence of the Pl allele of GPIIIa to a higher risk for coronary artery thrombosis, our data have physiologic relevance. However, they need to be confirmed in a larger study.	Cohort 86 patients with polycythemia vera (43 patients) or essential thrombocythemia (43 patients) 										
122693		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion	11	11p11-q12	F2	46697330	46717631		Dodson, P. M.  et al. 2003	12928694	C807T/G873A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Eye (London, England). 2003 Aug;17(6):772-7	The platelet glycoprotein Ia/IIa gene polymorphism C807T/G873A: a novel risk factor for retinal veinocclusion.		176930	11990	2	2003	These results suggest a major role for GpIa/IIa polymorphisms in the pathogenesis of RVO.	Case patients with retinal vasular occlusion;Control:controls										
122694	Y	pregnancy loss, recurrent; fetal loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia|Recurrence	11	11p11-q12	F2	46697330	46717631		Gerhardt, A.  et al. 2005	15630502	C807T			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Thrombosis and haemostasis. 2005 Jan;93(1):124-9	The polymorphism of platelet membrane integrin alpha2beta1 (alpha2807TT) is associated with premature onset of fetal loss.		176930	11998	2	2005	This study demonstrates a significant association of the alpha(2)807TT genotype of the platelet membrane integrin alpha(2)beta(1) with premature onset of early fetal loss. It appears that this risk factor does not induce the pathomechanism, but modulates the course of fetal loss. Furthermore, our study confirms the association of FVL with late fetal loss.	Case:104 women with fetal loss, including women with recurrent early fetal loss (n=34);Control:277 normal women										
122695	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631			12615788				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		176930	12017	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
122690	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11p11-q12	F2	46697330	46717631		Gupta, N.  et al. 2003	14701945	G1691A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Indian	India	CDC GDPinfo	2147	Hs.410092			Indian journal of medical sciences. 2003 Dec;57(12):535-42	Absence of factor V leiden (G1691A) mutation, FII G20210A allele in coronary artery disease in North India		176930	10489	2	2003	 Our results indicate that both these polymorphisms were totally absent in our population, therefore, these variants cannot be considered as independent risk factors or as a predictor for CAD. However, there is a need to confirm the above findings on patients from different populations from different parts of the country as there are reports which show that the incidence of Factor V Leiden varies from 1.3 % to 10%.	Control:200 age and sex matched controls from north India;Case:200 angiographically proven coronary artery disease:patients North India										
122691		placental vascular complications	HEMATOLOGICAL	HEM	Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Abruptio Placentae|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Camilleri, R. S.  et al. 2004	15091001	( -455G/A)			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Blood coagulation & fibrinolysis. 2004 Mar;15(2):139-47	-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications.		176930	10688	2	2004	These data suggest that factor V Leiden is associated with an increased risk of obstetric complications, but that the -455A allele of beta-fibrinogen, PGM and MTHFR do not appear to be implicated.	Control:100 parous women with no history of obstetric or medical complications;Case:147 women with obstetric complications associated with placental vascular disease										
122692		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	11	11p11-q12	F2	46697330	46717631		Carlsson, L. E.  et al. 2003	12724616				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		176930	11989	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
122687		sickle cell anemia	HEMATOLOGICAL	HEM	Vascular Diseases|Anemia, Sickle Cell	11	11p11-q12	F2	46697330	46717631		Couto, F. D.  et al. 2004	15481892	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Brazil	CDC GDPinfo	2147	Hs.410092			Hemoglobin. 2004 Aug;28(3):237-41	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil		176930	10483	2	2004	These results became important once the C677T MTHFR gene polymorphism was found to be an independent risk factor for vascular disease, a common clinical event in sickle cell disease.	Cohort 69/50 sickle cell disease patients tested for the C677T MTHFR gene polymorphism (n=69) and for the G20210A mutation (n=50) 										
122688		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Infante-Rivard, C.  et al. 2002	12097536				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			The New England journal of medicine. 2002 Jul;347(1):19-25	Absence of association of thrombophilia polymorphisms with intrauterine growth restriction.		176930	10485	2	2002	 Our findings do not indicate that there are associations between maternal or newborn polymorphisms associated with thrombophilia and an increased risk of intrauterine growth restriction.	Control:472 controls (with birth weight at or above the 10th:percentile);Case:493 newborns with intrauterine growth restriction (defined by birth weight below the 10th percentile for gestational age and sex according to Canadian norms) and their parents										
122689		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11p11-q12	F2	46697330	46717631		Ranjith, N.  et al. 2003	14523329				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Indian	India	CDC GDPinfo	2147	Hs.410092			Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction		176930	10488	2	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
122684	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Hefler L 2004	14706682	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		176930	2479	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122685		thrombosis	CARDIOVASCULAR	CARD	Thromboembolism|Thrombosis|Venous Thrombosis|Protein C Deficiency|Protein S Deficiency	11	11p11-q12	F2	46697330	46717631		Chan, D. K.  et al. 2000	11167771				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Chinese	China|Australia|Europe	CDC GDPinfo	2147	Hs.410092			British journal of haematology. 2000 Dec;111(4):1253-5	A comparison of polymorphism in the 3'-untranslated region of the prothrombin gene between Chinese and Caucasians in Australia		176930	10481	2	2000	The relatively low incidence of venous thromboembolism in the Chinese population compared with Caucasians is probably as a result of the low prevalence of factor V Leiden or other environmental or genetic factors.	Cohort 302 Caucasian individuals Australia 										
122686		retinal vascular occlusive disease	UNKNOWN	UNK	Retinal Vein Occlusion	11	11p11-q12	F2	46697330	46717631		Boyd, S.  et al. 2001	11673296	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			The British journal of ophthalmology. 2001 Nov;85(11):1313-5	Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion.		176930	10482	2	2001	 This study has not identified new risk factors for CRVO.	Case:63 consecutive patients with central retinal vein:occlusion;Control:63 age matched controls										
122681		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Silingardi M 2004	15077257				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Italian	Italy	KGB	2147	Hs.410092			Arthritis and rheumatism. 2004 Apr;51(2):177-83	Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis.		176930	2476	1	2004	 The frequency and types of vascular lesions in Italian BD patients were similar to those reported in studies from other countries. No association between factor V Leiden mutation and G20210A mutation in the 3'-untranslated region of the prothrombin gene with DVT was found. However, a prothrombin gene G20210A mutation may influence the development and severity of ocular involvement in BD.											
122682		thrombotic diseases	OTHER	OTH	Thrombosis	11	11p11-q12	F2	46697330	46717631		Herrmann FH 2004	14689519	20210G>A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Indian	Costa Rica	KGB	2147	Hs.410092			American journal of human biology. 2004 Jan-Feb;16(1):82-6	Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.		176930	2477	1	2004												
122683		coronary ischaemic syndrome	CARDIOVASCULAR	CARD	Myocardial Ischemia	11	11p11-q12	F2	46697330	46717631		Burzotta F 2004	14676252	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Heart (British Cardiac Society). 2004 Jan;90(1):82-6	G20210A prothrombin gene polymorphism and coronary ischaemic syndromes: a phenotype-specific meta-analysis of 12 034 subjects.		176930	2478	1	2004	 G20210A prothrombin gene polymorphism may represent a modest but significant risk factor for myocardial infarction at young ages and favour the expression of ischaemic heart disease among individuals who have a limited extent of coronary atherosclerosis at angiography.											
122677		Hepatic artery thrombosis	OTHER	OTH	Thrombosis|Postoperative Complications	11	11p11-q12	F2	46697330	46717631		Mas VR 2003	12865818	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Virginia	KGB	2147	Hs.410092			Transplantation. 2003 Jul;76(1):247-9	Hepatic artery thrombosis after liver transplantation and genetic factors: prothrombin G20210A polymorphism.		176930	2472	1	2003												
122678		atherothrombotic cerebral infarction.	OTHER	OTH	Cerebral Infarction	11	11p11-q12	F2	46697330	46717631		Petrovic D 2003	12859287				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Slovenia	KGB	2147	Hs.410092			Acta neurologica Scandinavica. 2003 Aug;108(2):109-13	Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.		176930	2473	1	2003	 The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.											
122679		recurrent abortions	OTHER	OTH	Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Pauer HU 2003	12956845				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Germany	KGB	2147	Hs.410092			Acta obstetricia et gynecologica Scandinavica. 2003 Oct;82(10):942-7	Analyzes of three common thrombophilic gene mutations in German women with recurrent abortions.		176930	2474	1	2003	 The results of the present study reveal no relationship between these common three thrombophilic mutations and recurrent abortions for the German population, and further studies are essentially recommended on whether a thrombophilia evaluation should be performed in patients with recurrent abortions.											
122673		plasma prothrombin levels	METABOLIC	MET	Thrombophilia	11	11p11-q12	F2	46697330	46717631		Ceelie H et al. 2001	11434686				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Thrombosis and haemostasis. 2001 Jun;85(6):1066-70	Polymorphisms in the prothrombin gene and their association with plasma prothrombin levels.		176930	2468	1	2001												
122675		Pregnancy-associated venous thromboembolism	OTHER	OTH	Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Samama MM 2003	14531916				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			British journal of haematology. 2003 Oct;123(2):327-34	Pregnancy-associated venous thromboembolism (VTE) in combined heterozygous factor V Leiden (FVL) and prothrombin (FII) 20210 A mutation and in heterozygous FII single gene mutation alone.		176930	2470	1	2003												
122676	N	acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11p11-q12	F2	46697330	46717631	n	Ranjith N 2003	14523329				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	young indian asian	India	KGB	2147	Hs.410092			Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction.		176930	2471	1	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
122669	Y	factor V Leiden	HEMATOLOGICAL	HEM	Thrombosis	11	11p11-q12	F2	46697330	46717631		Howard TE et al. 1998	9446674			3' untranslated	Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Blood. 1998 Feb;91(3):1092	The prothrombin gene 3'-untranslated region mutation is frequently associated with factor V Leiden in thrombophilic patients and shows ethnic-specific variation in allele frequency.		176930	2464	1	1998												
122670	Y	venous thrombosis	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Thrombophlebitis|Thrombophilia|Disease Susceptibility	11	11p11-q12	F2	46697330	46717631		Kapur RK et al. 1997	9409269				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		New York	KGB	2147	Hs.410092			Arteriosclerosis, thrombosis, and vascular biology. 1997 Nov;17(11):2875-9	A prothrombin gene mutation is significantly associated with venous thrombosis.		176930	2465	1	1997												
122672	Y	Spinal cord infarction and recurrent venous thrombosis	CARDIOVASCULAR	CARD	Spinal Cord Ischemia|Venous Thrombosis|Infarction|Recurrence	11	11p11-q12	F2	46697330	46717631		Gonzalez-Ordonez AJ et al. 2001	11742625			3'untranslated	Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Neurologia. 2001 Nov;16(9):434-8	Spinal cord infarction and recurrent venous thrombosis in association with estrogens and the 20210A allele of the prothrombin gene trans Mielopatia aguda isquemica y trombosis venosa recurrente asociada a estrogenos y alelo 20210A del gen de la protromb		176930	2467	1	2001												
122665	Y	massive thrombosis	OTHER	OTH	Thrombosis	11	11p11-q12	F2	46697330	46717631		Howard TE et al. 1997	9282798			3' untranslated	Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Blood coagulation & fibrinolysis. 1997 Jul;8(5):316-9	A patient homozygous for a mutation in the prothrombin gene 3'-untranslated region associated with massive thrombosis.		176930	2460	1	1997												
122667	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	11	11p11-q12	F2	46697330	46717631		Tursen U et al. 2001	11820731				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Archives of dermatological research. 2001 Nov;293(10):537-9	Association of factor V Leiden and prothrombin gene mutation with Behcet's disease.		176930	2462	1	2001												
122668	Y	elevated plasma prothrombin levels and an increase	OTHER	OTH	Thrombophlebitis|Factor V Deficiency|Disease Susceptibility	11	11p11-q12	F2	46697330	46717631		Poort SR et al. 1996	8916933			3' untranslated	Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Netherlands	KGB	2147	Hs.410092			Blood. 1996 Nov;88(10):3698-703	A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.		176930	2463	1	1996												
122661	N	coronary artery disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Myocardial Infarction|Hypercholesterolemia|Obesity|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631	n	Eikelboom JW et al. 1998	9869153				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Western Australia	KGB	2147	Hs.410092			Thrombosis and haemostasis. 1998 Dec;80(6):878-80	No association between the 20210 G/A prothrombin gene mutation and premature coronary artery disease.		176930	2456	1	1998	We conclude that  the 20210 G/A prothrombin gene mutation is not a major risk factor for premature coronary artery disease in our predominantly Caucasian Australian population.											
122662	Y	Early occlusion of coronary by-pass	OTHER	OTH	Coronary Disease|Thrombosis|Recurrence	11	11p11-q12	F2	46697330	46717631		Varela ML et al. 1999	10695772				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Blood coagulation & fibrinolysis. 1999 Oct;10(7):443-6	Early occlusion of coronary by-pass associated with the presence of factor V Leiden and the prothrombin 20210A allele: case report.		176930	2457	1	1999												
122663		Small for gestational age infant	OTHER	OTH	Fetal Growth Retardation|Placental Insufficiency|Pregnancy Complications, Hematologic|Thrombosis|Infarction	11	11p11-q12	F2	46697330	46717631		Verspyck E et al. 1999	10391523				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			European journal of obstetrics, gynecology, and reproductive biology. 1999 Apr;83(2):143-4	Small for gestational age infant in association with maternal prothrombin gene variant (nt 20210A).		176930	2458	1	1999												
122657		inflammatory bowel disease; colorectal cancer; ACE activity; coronary atherosclerosis	CANCER	CAN		1	1q31-q32.1	F13B	195274943	195303020		Khitrinskaia Iiu  et al. 2001	11771311				Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1			CDC GDPinfo	2165	Hs.435782			Genetika. 2001 Nov;37(11):1553-8	[Analysis of Alu-polymorphism in Buryat populations]		134580	24383	2	2001	Analysis of autosomal Alu insertions suggests the uniformity of the Buryat gene pool											
122658	Y	Vascular Disease	CARDIOVASCULAR	CARD	Vascular Diseases	11	11p11-q12	F2	46697330	46717631		Hessner MJ 2001	11568114	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Caucasian		TJB	2147	Hs.410092			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		176930	2453	1	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors										
122659	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631	n	Coulet F et al. 2000	10823287				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	caucasian	Europe	KGB	2147	Hs.410092			Thrombosis and haemostasis. 2000 May;83(5):796-7	Lack of association of the prothrombin gene variant G20210A with myocardial infarction in Caucasian males.		176930	2454	1	2000												
122654	N	nonfatal myocardial infarction.	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q31-q32.1	F13B	195274943	195303020		Reiner AP 2003	12456499			coding sequence	Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1	post-menopausal women		KGB	2165	Hs.435782			Blood. 2003 Jul;102(1):25-30	Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.		134580	2540	1	2003	If confirmed, these findings may permit a better assessment of the cardiovascular risks and benefits associated with postmenopausal estrogen therapy.	Cohort 955 post-menopausal women	estrogen									
122655		thrombosis, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	1	1q31-q32.1	F13B	195274943	195303020		Komanasin, N.  et al. 2005	16241947	(His95Arg)			Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1			CDC GDPinfo	2165	Hs.435782			Journal of thrombosis and haemostasis. 2005 Nov;3(11):2487-96	A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociationand venous thrombosis.		134580	10480	2	2005	 We have identified three FXIIIB polymorphisms, one of which codes for substitution of His95Arg. The Arg95 variant associates with a moderately increased risk for venous thrombosis, and with increased dissociation of the FXIII subunits in plasma, although in vitro steady-state binding between purified subunits was not affected.											
122656		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q31-q32.1	F13B	195274943	195303020		Reiner, A. P.  et al. 2002	12456499				Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1			CDC GDPinfo	2165	Hs.435782			Blood. 2003 Jul;102(1):25-30	Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.		134580	21312	2	2002	If confirmed, these findings may permit a better assessment of the cardiovascular risks and benefits associated with postmenopausal estrogen therapy.	Cohort 955 post-menopausal women 	estrogen									
122650		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	6	6p25.3-p24.3	F13A1	6089309	6265923		Hefler, L.  et al. 2004	14706682				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		134570	24382	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
122651		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923			11963567				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		134570	25985	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
122652		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	6	6p25.3-p24.3	F13A1	6089309	6265923		Navarro-Lopez, F.   2002	11975906				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		134570	28334	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
122647		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	6	6p25.3-p24.3	F13A1	6089309	6265923		Ozbek, N.  et al. 2005	15831156				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		134570	21310	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
122648	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	6	6p25.3-p24.3	F13A1	6089309	6265923		De Maat, M. P.  et al. 2004	15333035			coding sequence	Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes	5985	134570	21311	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
122644	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6p25.3-p24.3	F13A1	6089309	6265923		Clark, P.  et al. 2003	12632025				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Blood coagulation & fibrinolysis. 2003 Feb;14(2):155-7	The G-to-T point mutation in codon 34 of the factor XIII gene and the risk of pre-eclampsia.		134570	16570	2	2003	We conclude that  the presence of leucine at this site is not associated with a protection against pre-eclampsia to the magnitude of that reported in other thrombotic disease.	Case:102 pre-eclampsia cases;Control:208 matched control subjects										
122645		heart disease, ischemic; peripheral arterial disease	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Hancer, V. S.  et al. 2005	15386532				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Turkish		CDC GDPinfo	2162	Hs.335513			Cell biochemistry and function. 2005 Jan-Feb;23(1):55-8	Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci.		134570	16571	2	2005												
122646		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Reiner, A. P.  et al. 2002	12456499				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Blood. 2003 Jul;102(1):25-30	Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.		134570	16573	2	2002	If confirmed, these findings may permit a better assessment of the cardiovascular risks and benefits associated with postmenopausal estrogen therapy.	Cohort 955 post-menopausal women 	estrogen									
122641	Y	pregnancy loss, recurrent; coagulation disorder	REPRODUCTION	REP	Abortion, Spontaneous|Abortion, Habitual	6	6p25.3-p24.3	F13A1	6089309	6265923		Dossenbach-Glaninger, A.  et al. 2003	12816904	4G/5G			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Clinical chemistry. 2003 Jul;49(7):1081-6	Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and earlypregnancy loss.		134570	13658	2	2003	 Homozygosity for PAI-1 4G or FXIII 34Leu polymorphisms as well as compound carrier status is associated with early pregnancy loss.	Control:48 unrelated parous healthy controls without a history of pregnancy loss;Case:49 unrelated Caucasian women with a history of two consecutive or three to six nonconsecutive early pregnancy losses										
122642	Y	thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Alhenc-Gelas, M.  et al. 2000	11154123				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2000 Dec;84(6):1117-8	The FXIII Val 34 Leu mutation and the risk of venous thrombosis.		134570	16568	2	2000	The results of this meta-analysis show that the FXIII Val 34 Leu mutation previously demonstrated to be protective against arterial thrombotic process could have a weak protective effect against venous thromboembolism.	Control:1229 controls from the Paris Thrombosis Study;Case:1340 cases from 5 studies, including results reported in this article;Control:2211 controls from 5 studies, including results reported in this article;Case:354 patients with VTE from the Paris Thrombosis Study										
122643		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Coronary Artery Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Warner, D.  et al. 2001	11307805				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Asia|Great Britain	CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2001 Mar;85(3):408-11	Coagulation factor XIII and cardiovascular disease in UK Asian patients undergoing coronary angiography		134570	16569	2	2001	This evidence does not support the hypothesis that FXIIIVal34Leu is protective against MI in the UK Asian population. FXIII B-subunit levels are strongly linked to risk factors for cardiovascular disease, suggesting an underlying association with insulin resistance.	Cohort group of UK Asians attending for coronary angiography UK 										
122638		birth weight; preterm delivery	REPRODUCTION	REP	Premature Birth	6	6p25.3-p24.3	F13A1	6089309	6265923		Hartel, C.  et al. 2005	16113789				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2005 Jul;94(1):88-92	Polymorphisms of haemostasis genes as risk factors for preterm delivery.		134570	10478	2	2005												
122640	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Kakko, S.  et al. 2002	12486862				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			European journal of clinical investigation. 2002 Sep;32(9):643-8	Polymorphisms of genes affecting thrombosis and risk of myocardial infarction.		134570	11987	2	2002	 The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.	Case:142 acute myocardial infaction survivors;Control:142 age- and sex-matched control subjects	smoking (tobacco)									
122635	Y	brain hemorrhage; stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Hemorrhage|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Slowik, A.  et al. 2005	15644629	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Cerebrovascular diseases (Basel, Switzerland). 2005 ;19(3):165-70	Coagulation factor XIII VaI34Leu polymorphism in patients with small vessel disease or primary intracerebral hemorrhage.		134570	10474	2	2005	 Our results suggest that the Val/Val genotype of FXIII could be associated with an increased risk of SVD stroke.	Control:127 controls matched to patients with primary intracerebral hemorrhage;Control:135 age- and sex-matched controls matched to patients with ischemic stroke due to small vessel disease;Case:64 patients with primary intracerebral hemorrhage;Case:66 patients with ischemic stroke due to small vessel:disease										
122636		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	6	6p25.3-p24.3	F13A1	6089309	6265923		Rubattu, S.  et al. 2005	15968394				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Italy	CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2005 Jun;93(6):1095-100	Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population.		134570	10476	2	2005												
122637		vascular disease	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Undas, A.  et al. 2005	16102108	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Journal of thrombosis and haemostasis. 2005 Sep;3(9):2015-21	Factor XIII Val34Leu polymorphism and gamma-chain cross-linking at the site of microvascular injury in healthy and coumadin-treated subjects.		134570	10477	2	2005												
122632	Y	varicose ulcers	UNKNOWN	UNK	Varicose Ulcer|Chronic Disease|Disease Progression	6	6p25.3-p24.3	F13A1	6089309	6265923		Gemmati, D.  et al. 2004	15453833	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Wound repair and regeneration. 2004 Sep-Oct;12(5):512-7	Factor XIII V34L polymorphism modulates the risk of chronic venous leg ulcer progression and extension.		134570	10471	2	2004	We conclude that  FXIII antigen levels and FXIII V34L polymorphism may play a crucial role in the complex cascade of CVU pathophysiology, being significantly related to the CVU progression and extension because of the direct effects they have on the FXIII molecular activity.	Control:195 healthy controls (91 of them sex- and age-matched);Case:91 chronic venous leg ulcer patients										
122633		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p25.3-p24.3	F13A1	6089309	6265923		Barbosa, H. C.  et al. 2004	15533380	Val34Leu, Tyr204Phe			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Caucasian	Brazil	CDC GDPinfo	2162	Hs.335513			Fertility and sterility. 2004 Nov;82(5):1455-7	Tyr204Phe and Val34Leu polymorphisms in two Brazilian ethnic groups and in patients with recurrent miscarriages		134570	10472	2	2004	The prevalence of these polymorphisms did not differ between patients with RM and controls or between Caucasian and blacks, suggesting that these polymorphisms cannot be considered a risk factor for RM.	Control:171/27 Brazilian controls (Caucasians, n=171, Blacks,:n=27);Case:86 patients with recurrent miscarriages (53 Caucasians and 33 Blacks):Brazil										
122634		coronary fibrinolysis	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Marin, F.  et al. 2005	15629368	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	European		CDC GDPinfo	2162	Hs.335513			Journal of the American College of Cardiology. 2005 Jan;45(1):25-9	A pharmacogenetic effect of factor XIII valine 34 leucine polymorphism on fibrinolytic therapy for acute myocardial infarction.		134570	10473	2	2005	 In a large cohort of nonselected and consecutive acute MI patients from two different European populations, we show clinical evidence that the presence of the Leu34 allele reduces the efficacy of fibrinolytic therapy.	Cohort 293 consecutive myocardial infarction patients (62 +/- 12 years; 231 males) from two different European populations 	fibrinolytic drugs smoking (tobacco)									
122629	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease|Inflammation	6	6p25.3-p24.3	F13A1	6089309	6265923		Marin, F.  et al. 2004	15350843	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Journal of molecular and cellular cardiology. 2004 Sep;37(3):699-704	Factor XIII Val34Leu polymorphism modulates the prothrombotic and inflammatory state associated with atrial fibrillation		134570	10468	2	2004	 FXIII Val34Leu polymorphism was independently associated with IL6 levels in AF. The Leu34 allele may potentially influence the prothrombotic state in these patients by modulating the inflammatory state.	Control:585 unrelated subjects from the same geographical area;Case:90 stable outpatients (73 +/- 8 years) with persistent atrial fibrillation										
122630	Y	subconjunctival hemorrhage	OTHER	OTH	Conjunctival Diseases|Eye Hemorrhage	6	6p25.3-p24.3	F13A1	6089309	6265923		Parmeggiani, F.  et al. 2004	15364237	G-to-T transition in exon 2 of the factor XIIIA gene resulting in a substitution of leucine for valine at amino acid 34 (Val34Leu)	Antithrombotic, hyperfibrinolytic	coding sequence	Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Caucasian patients		CDC GDPinfo	2162	Hs.335513			American journal of ophthalmology. 2004 Sep;138(3)	Prevalence of factor XIII Val34Leu polymorphism in patients affected by spontaneous subconjunctival hemorrhage.		134570	10469	2	2004	 Both homozygosity and heterozygosity for FXIII Val34Leu predispose to idiopathic subconjunctival hemorrhage, emphasizing the role of Leu34 allele as inherited risk factor for spontaneous, especially recurrent, subconjunctival hemorrhages.	Control:107 healthy subjects matched for age and gender;Case:107 white patients suffering from one or more episodes of idiopathic subconjunctival hemorrhage										
122631		subconjunctival hemorrhage	UNKNOWN	UNK		6	6p25.3-p24.3	F13A1	6089309	6265923		Shemirani, A. H.  et al. 2004	15387436	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Clinical chemistry and laboratory medicine. 2004 ;42(8):877-9	Rapid detection of the factor XIII Val34Leu (163 G-->T) polymorphism by real-time PCR using fluorescence resonance energy transfer detection and melting curve analysis.		134570	10470	2	2004	Using this method, an allele frequency of 24.2% was obtained (n=113), which well agrees with the allele frequency obtained by PCR-RFLP on a different group of the same ethnic Hungarian population (25.9%).	Cohort 113 individuals of Hungarian ethnicity 										
122626		pulmonary thromboembolism	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Zidane, M.  et al. 2003	12958613	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2003 Sep;90(3):439-45	Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively proven pulmonary embolism.		134570	10465	2	2003	The frequency of FXIIIA Leu34Leu in PE patients and	Case patients with objectively demonstrated pulmonary:embolism;Control non-pulmonary embolism patients										
122627		factor 13 activity	UNKNOWN	UNK	Myocardial Infarction|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Heng, C. K.  et al. 2003	14593529	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Chinese	Singapore|India|China	CDC GDPinfo	2162	Hs.335513			Human genetics. 2004 Jan;114(2):186-91	The impact of factor XIIIa V34L polymorphism on plasma factor XIII activity in the Chinese and Asian Indians from Singapore.		134570	10466	2	2003	The effect of V34L polymorphism on FXIII activity in the Indian females is independent of the effects of the P564L and E651Q polymorphic sites in the FXIIIa gene.	Control:controls;Case Asian Indian coronary artery disease patients:Cohort:532 Asian Indian and Chinses healthy individuals:Singapore										
122628	N	antiphospholipid syndrome	IMMUNE	IMM	Venous Thrombosis|Antiphospholipid Syndrome	6	6p25.3-p24.3	F13A1	6089309	6265923		Diz-Kucukkaya, R.  et al. 2004	14870915	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Lupus. 2004 ;13(1):32-5	Factor XIII Val34Leu polymorphism does not contribute to the prevention of thrombotic complications in patients with antiphospholipid syndrome.		134570	10467	2	2004	Our results showed that the FXIII Leu allele has no protective effect in the development of thrombosis in APS.	Control:126/60 healthy controls (n=126) and healthy subjects who were age- and sex-matched with thrombotic APS group:(n=60);Case:60/22 antiphospholipid syndrome patients with arterial and venous thrombosis (n=60) and antiphospholipid antibody (aPLA) positive patients with first trimester abortus and/or thrombocytopenia (n=22)										
122623	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident|Ischemic Attack, Transient|Cerebral Hemorrhage	6	6p25.3-p24.3	F13A1	6089309	6265923		Endler, G.  et al. 2003	12542492	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			British journal of haematology. 2003 Jan;120(2):310-4	Is the factor XIII 34Val/Leu polymorphism a protective factor for cerebrovascular disease?		134570	10462	2	2003	In contrast to previously reported findings in smaller collectives, our data suggest that an association of the FXIII Val34Leu polymorphism with a decreased risk of ischaemic stroke or an increased risk of intracerebral haemorrhage is highly unlikely. Thus, screening for the FXIII Val34Leu polymorphism will not contribute significantly to the risk prediction of cerebrovascular disease.	Control:718/369 patients with ischaemic stroke (n=718, 63 +/- 14 years; 395 men, 323 women) and healthy control subjects (n=369, 59 +/- 14 years; 299 men, 170:women);Case:94 patients with primary arterial intracerebral										
122625	N	cancer; thromboembolism, venous	CANCER	CAN	Neoplasms|Venous Thrombosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Ramacciotti, E.  et al. 2003	12757770	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis research. 2003 Feb;109(4):171-4	Prevalence of factor V Leiden, FII G20210A, FXIII Val34Leu and MTHFR C677T polymorphisms in cancer patients with and without venous thrombosis		134570	10464	2	2003	The present data do not point to an association between the four polymorphisms here investigated and the risk of VTE in cancer patients.	Cohort 211 unrelated and unselected patients (M/F ratio 0.5, mean age 57 years, range 12-91 years) with a diagnosis of cancer Sao Paulo, Brazil 										
122620	N	intracerebral hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage	6	6p25.3-p24.3	F13A1	6089309	6265923		Cho, K. H.  et al. 2002	11961312	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Korean	Korea	CDC GDPinfo	2162	Hs.335513			Journal of Korean medical science. 2002 Apr;17(2):249-53	No Association of Factor XIII Val34Leu Polymorphism with Primary Intracerebral Hemorrhage and Healthy Controls in Korean Population		134570	10459	2	2002	In conclusion, the results of this study suggest that FXIII Val34Leu be absent or rare both in patients with PICH and in healthy controls among Koreans.	Control:48 controls matched for age, sex, and risk factors for cerebrovascular diseases;Case:58 in-patients with primary intracerebral hemorrhage										
122621	Y	intracranial hemorrhage; white matter disease	CARDIOVASCULAR	CARD	Intracranial Hemorrhages|Infant, Premature, Diseases|Leukomalacia, Periventricular	6	6p25.3-p24.3	F13A1	6089309	6265923		Gopel, W.  et al. 2002	12072871	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			The Journal of pediatrics. 2002 Jun;140(6):688-92	The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g.		134570	10460	2	2002	 VLBW infants carrying the factor XIII 34Leu polymorphism had a decreased risk for white matter disorders.	Control:301 control infants born at term;Case:531 very low birth weight [VLBW] infants born at term										
122622	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Butt, C.  et al. 2002	12480694	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Newfoundland	CDC GDPinfo	2162	Hs.335513			Blood. 2003 Apr;101(8):3037-41	Combined carrier status of prothrombin 20210A and factor XIII-A Leu34 alleles as a strong risk factor for myocardial infarction: evidence of a gene-geneinteraction.		134570	10461	2	2002	Based on our data, 1) the FII 20210A allele is a risk factor for MI, possibly important for early onset; 2) FVL may predispose for early onset MI; 3) the FXIII-A L34 allele predisposes for MI in males only; however, 4) interaction between the FII 20210A and FXIII-A L34 alleles form a synergistic co-effect which strongly predisposes for MI, placing combined carriers at high risk for MI.	Case:500 myocardial infarct patients:Newfoundland;Control:500:controls		FII	2021230A	FXIII	A L34			Y		myocardial infarction
122617		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Metabolic Syndrome X	6	6p25.3-p24.3	F13A1	6089309	6265923		Mills, J. D.  et al. 2002	11916071	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2002 Mar;87(3):409-14	Factor XIII-circulating levels and the Val34Leu polymorphism in the healthy male relatives of patients with severe coronary artery disease.		134570	10456	2	2002	There was no difference in genotype frequency at the FXIII Val34Leu polymorphism between relatives and controls. FXIII B-subunit levels are elevated in the relatives of CAD patients and this is independent of other cardiovascular risk factors.	Case:185 healthy male relatives aged 65 or less were recruited from 125 patients with multi-vessel CAD;Control:185 healthy, age-matched controls										
122618	Y	hemorrhage, intracerebral	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Hypertension|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Corral, J.  et al. 2000	11920201	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Spain	CDC GDPinfo	2162	Hs.335513			The hematology journal. 2000 ;1(4):269-73	Factor XIII Val34Leu polymorphism in primary intracerebral haemorrhage.		134570	10457	2	2000	 The results suggest that the Leu 34 allele of the A-chain factor XIII gene has a minor role in the development of non-traumatic primary intracerebral haemorrhage. Moreover, the simultaneous presence of the Leu 34 allele with selected risk factors for this disease does not increase the risk of developing this disease.	Case:116 Patients with non-traumatic primary intracerebral:haemorrhage;Control:116 age-, race-, sex- and risk factor-matched controls;Control:465 individuals from the general population										
122614		stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Hemorrhage|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Reiner, A. P.  et al. 2001	11692020				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2580-6	Polymorphisms of coagulation factor XIII subunit A and risk of nonfatal hemorrhagic stroke in young white women		134570	10453	2	2001	 Our findings suggest that the Phe204 and Leu564 variants of coagulation factor XIII may be markers for genetic susceptibility to hemorrhagic stroke in women aged <45 years.	Control:345 demographically similar control subjects;Case:42 white women aged <45 years with nonfatal hemorrhagic stroke										
122615	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Aleksic, N.  et al. 2002	11834540	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Maryland|North Carolina|Minnesota|Mississippi	CDC GDPinfo	2162	Hs.335513			Arteriosclerosis, thrombosis, and vascular biology. 2002 Feb;22(2):348-52	Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The AtherosclerosisRisk in Communities (ARIC) Study.		134570	10454	2	2002	This prospective study did not provide evidence of a reduced CHD risk for the FXIIIA 34Leu allele.	Cohort 15792 healthy subjects recruited from 4 US communities into the Atherosclerosis Risk in Communities (ARIC) study 1987-1989 										
122616	Y	myocardial infarction; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Reiner, A. P.  et al. 2002	11841441				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			British journal of haematology. 2002 Feb;116(2):376-82	Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women.		134570	10455	2	2002	Our results suggest that the factor XIIIA Val34Leu variant may be associated with a decreased risk of MI among young women with other risk factors. The relationship of factor XIIIA polymorphisms to cerebrovascular disease requires further study.	Case white women <45-years of age with myocardial infarction (MI) and ischaemic stroke in a population-based study;Control:345 demographically similar controls										
122611	N	coronary artery calcification	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Calcinosis|Diabetes Mellitus, Type 1	5	5q33-qter	F12	176761746	176764079		Colhoun, H. M.  et al. 2002	12052484				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			Atherosclerosis. 2002 Aug;163(2):363-9	Activated factor XII levels and factor XII 46C>T genotype in relation to coronary artery calcification in patients with type 1 diabetes and healthy subjects.		234000	16567	2	2002	We conclude that  plasma FXIIa is under strong genetic control but also reflects plasma triglycerides and endothelial activation or dysfunction. FXIIa appears unlikely to be directly atherogenic but may be a useful marker of coronary atherosclerosis because of its association with these other factors. Type 1 diabetes is associated with lower levels of FXIIa despite a greater prevalence of atherosclerosis.	Case:190 type 1 diabetic subjects;Control:192 randomly sampled subjects from the general:population										
122612	Y	nonfatal myocardial infarction.	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Reiner AP 2003	12456499			coding sequence	Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	post-menopausal women		KGB	2162	Hs.335513	myocardial infarction		Blood. 2003 Jul;102(1):25-30	Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction.		134570	2538	1	2003	If confirmed, these findings may permit a better assessment of the cardiovascular risks and benefits associated with postmenopausal estrogen therapy.	Cohort 955 post-menopausal women	estrogen									
122613	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Margaglione, M.  et al. 2000	11154124	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Thrombosis and haemostasis. 2000 Dec;84(6):1118-9	Factor XIII Val34Leu polymorphism and risk of deep vein thrombosis.		134570	10452	2	2000	In conclusion, this study provides no evidences for an association between the FXIII Val34leu gene polymorphism and a history of deep vein thrombosis suggesting that an important contribution to the occurrence of deep vein thrombosis is unlikely and that the FXIII Val34leu gene polymorphism is not a useful tool for risk assessment.	Control:1045 apparently healthy subjects without a clinical history of venous thromboembolism;Case:331/96 patients presenting with deep vein thrombosis in leg (n=331) or at unusual sites (n=96)										
122607	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Acute Disease|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079		Santamaria, A.  et al. 2004	15257949	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2	Spanish		CDC GDPinfo	2161	Hs.1321			Haematologica. 2004 Jul;89(7):878-9	Homozygosity of the T allele of the 46 C-->T polymorphism in the F12 gene is a risk factor for acute coronary artery disease in the Spanish population.		234000	10449	2	2004	We found a 6-fold higher risk of acute CAD associated with the homozygosity of the T allele of the F12, 46C-->T polymorphism in the Spanish population.	Control:controls;Case Spanish acute coronary artery disease patients										
122608		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	5	5q33-qter	F12	176761746	176764079		Walch, K.  et al. 2005	16167952	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			BJOG. 2005 Oct;112(10):1434-6	The C46T polymorphism of the coagulation factor XII gene and idiopathic recurrent miscarriage.		234000	10450	2	2005												
122610		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	5	5q33-qter	F12	176761746	176764079		Weger, M.  et al. 2005	16157382				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		234000	12002	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
122604		atherothrombosis	CARDIOVASCULAR	CARD	Thrombosis|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079		Tirado, I.  et al. 2003	15000805	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			Genetic testing. 2003 ;7(4):295-301	Rapid detection of the 46C --> T polymorphism in the factor XII gene, a novel genetic risk factor for thrombosis, by melting peak analysis using fluorescence hybridization probes.		234000	10446	2	2003	In conclusion, the technique presented allows for easy, reliable, and rapid detection of this polymorphism, and is suitable for typing both small and large numbers of DNA samples.	Cohort 100 subjects 										
122605		thromboembolism, venous; factor XII levels	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079		Tirado, I.  et al. 2004	15116249	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2	Spanish	Spain	CDC GDPinfo	2161	Hs.1321			Thrombosis and haemostasis. 2004 May;91(5):899-904	Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis.		234000	10447	2	2004	This study confirms that the 46C-->T polymorphism is a genetic risk factor for venous thrombosis in the Spanish population. In addition, our results confirm that a genome-wide scan coupled with a classical case-control association study is an extremely valuable approach to identify DNA variants that affect complex diseases.	Control:250 Spanish subjects matched for sex and age as a:controls;Case:250 unrelated consecutive Spanish patients suffering from venous thrombotic disease										
122606		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	5	5q33-qter	F12	176761746	176764079		Santamaria, A.  et al. 2004	15232129	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2	Spanish	Spain	CDC GDPinfo	2161	Hs.1321			Stroke; a journal of cerebral circulation. 2004 Aug;35(8):1795-9	Homozygosity of the T allele of the 46 C->T polymorphism in the F12 gene is a risk factor for ischemic stroke in the Spanish population.		234000	10448	2	2004	 This study suggests that the 46 C-->T polymorphism is a genetic risk factor for IS in the Spanish population. In addition, our results confirm that the use of genetic linkage studies along with a case-control association study is an extremely valuable approach for identifying DNA variants that affect complex diseases.	Case:205 individuals diagnosed with ischemic stroke;Control:231 age-gender-ethnic control subjects										
122601	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	5	5q33-qter	F12	176761746	176764079		Iinuma, Y.  et al. 2002	11821096	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			Fertility and sterility. 2002 Feb;77(2):353-6	Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T),is linked to recurrent miscarriage.		234000	10443	2	2002	Factor XII activity overall, but not the 46C/T common genetic polymorphism, is associated with recurrent miscarriage.	Control:67 controls with no obstetric complications or history of miscarriage;Case:83 patients with a history of two or more unexplained first-trimester recurrent miscarriages										
122602		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction|Syndrome|Acute Disease	5	5q33-qter	F12	176761746	176764079		Endler, G.  et al. 2001	11843842	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2		Austria	CDC GDPinfo	2161	Hs.1321			British journal of haematology. 2001 Dec;115(4):1007-9	Homozygosity for the C-->T polymorphism at nucleotide 46 in the 5' untranslated region of the factor XII gene protects from development of acute coronary syndrome.		234000	10444	2	2001		Control:227 patients with stable coronary artery disease;Case:303 patients with acute coronary syndrome										
122603	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia	5	5q33-qter	F12	176761746	176764079		Zito, F.  et al. 2002	12208481	C-->T nt 46			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2		Great Britain	CDC GDPinfo	2161	Hs.1321			Atherosclerosis. 2002 Nov;165(1):153-8	Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study.		234000	10445	2	2002	 The TT genotype of the FXII 46C>T polymorphism is associated with a high risk of CHD in men with high cholesterol. We hypothesise that reduced fibrinolysis in these men, as a consequence of lower plasma FXIIa, may be the mechanism leading to higher risk, and that pravastatin treatment may enhance this effect.	Case:441 coronary heart disease cases;Control:990:controls	pravastatin									
122598	Y	high or low factor XIII specific activity.	OTHER	OTH	Abortion, Habitual	5	5q33-qter	F12	176761746	176764079		Anwar R et al. 1999	9920838				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2		England	KGB	2161	Hs.1321			Blood. 1999 Feb;93(3):897-905	Genotype/phenotype correlations for coagulation factor XIII: specific normal polymorphisms are associated with high or low factor XIII specific activity.		234000	2536	1	1999	Overall, we have identified 23 unique FXIIIA genotypes. Certain specific FXIIIA genotypes consistently give rise to high, low, or median FXIII specific activity levels, while others appear to have little or no consistent influence on the FXIII phenotype. These genotype to phenotype relationships are discussed in light of the growing interest in the role of FXIII in clinical problems involving an increased thrombotic tendency.											
122599	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia	5	5q33-qter	F12	176761746	176769183		Zito F et al. 2002	12208481				coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505		Great Britain	KGB	2161	Hs.1321			Atherosclerosis. 2002 Nov;165(1):153-8	Association of the factor XII 46C>T polymorphism with risk of coronary heart disease (CHD) in the WOSCOPS study.			2537	1	2002	 The TT genotype of the FXII 46C>T polymorphism is associated with a high risk of CHD in men with high cholesterol. We hypothesise that reduced fibrinolysis in these men, as a consequence of lower plasma FXIIa, may be the mechanism leading to higher risk, and that pravastatin treatment may enhance this effect.		pravastatin									
122600	Y	f12 plasma deficiency, moderate	UNKNOWN	UNK	Factor XII Deficiency	5	5q33-qter	F12	176761746	176764079		Endler, G.  et al. 2001	11248286	C-->T nt 46		promoter	Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2		Austria	CDC GDPinfo	2161	Hs.1321			Thrombosis research. 2001 Feb;101(4):255-60	A common C-->T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity.		234000	10442	2	2001	Among 100 healthy newborns, we found 64% homozygous carriers of the wildtype FXII 46C allele, 29% were heterozygous for FXII C46T, and 7% homozygous for FXII 46T. Evaluation of plasma FXII activity and genotype in 80 randomly selected and unrelated individuals revealed a highly statistically significant (P<.001) association of the FXII 46T allele with reduced FXII plasma activity.	Cohort 100 healthy newborns 										
122595		prostate cancer	CANCER	CAN	Factor XI Deficiency	4	4q35	F11	187424111	187447829		Zivelin, A.  et al. 2002	11895778				Coagulation factor XI (plasma thromboplastin antecedent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_019559	French	France	CDC GDPinfo	2160	Hs.1430			Blood. 2002 Apr;99(7):2448-54	Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.		264900	16566	2	2002	the prevalence of the mutant allele was 0.005	Cohort 206 individuals of French Basque origin 										
122596	Y	Activated factor XII levels	OTHER	OTH	Cardiovascular Diseases	5	5q33-qter	F12	176761746	176764079		Ishii K et al. 2000	10870808				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			KGB	2161	Hs.1321			Blood coagulation & fibrinolysis. 2000 Apr;11(3):277-84	Activated factor XII levels are dependent on factor XII 46C/T genotypes and factor XII zymogen levels and are associated with vascular risk factors in patients and healthy subjects.		234000	2534	1	2000												
122597	Y	factor XII-deficient patients	HEMATOLOGICAL	HEM	Factor XII Deficiency	5	5q33-qter	F12	176761746	176764079		Hofferbert S et al. 1996	8641707				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			KGB	2161	Hs.1321			Human genetics. 1996 Jun;97(6):838-41	A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.		234000	2535	1	1996												
122591		osteochondromas	METABOLIC	MET	Exostoses, Multiple Hereditary	11	11p12-p11	EXT2	44073674	44223556		Wuyts, W.  et al. 2005	16283885				Exostoses (multiple) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000401.2			CDC GDPinfo	2132	Hs.368404			Clinical genetics. 2005 Dec;68(6):542-7	An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.		608210	21309	2	2005												
122592		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q35-q36	EZH2	148135407	148212347		Bachmann, N.  et al. 2005	16015586				Enhancer of zeste homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004456.3			CDC GDPinfo	2146	Hs.444082			The Prostate. 2005 Nov;65(3):252-9	Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer.		601573	16565	2	2005	 We have possibly identified haplotypes which mark alleles that have a beneficial effect on the development of prostate cancer. Moreover, our results suggest that genetic variations of the EZH2 gene are not responsible for the linkage of 7q to aggressive prostate cancer.											
122593		factor XI deficiency	HEMATOLOGICAL	HEM	Intestinal Diseases|Factor XI Deficiency|Ulcer	4	4q35	F11	187424111	187447829		Iijima K et al. 2000	11122101				Coagulation factor XI (plasma thromboplastin antecedent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_019559			KGB	2160	Hs.1430			British journal of haematology. 2000 Nov;111(2):556-8	A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain.		264900	2532	1	2000												
122586		osteochondromas	METABOLIC	MET	Exostoses, Multiple Hereditary	8	8q24.11-q24.13	EXT1	118880782	119193239		Vink, G. R.  et al. 2004	15586175				Exostoses (multiple) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000127.2			CDC GDPinfo	2131	Hs.492618			European journal of human genetics. 2005 Apr;13(4):470-4	Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations andexonic deletions account for more than half of the mutations.		608177	16563	2	2004	In patients suspected to be affected by MO, we recommend a quantitative analysis such as MLPA, followed by direct sequence analysis for the screening of the EXT1 and EXT2 genes.	Cohort 35 patients with multiple osteochondromas 										
122587		osteochondromas	METABOLIC	MET	Exostoses, Multiple Hereditary	8	8q24.11-q24.13	EXT1	118880782	119193239		Wuyts, W.  et al. 2005	16283885				Exostoses (multiple) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000127.2			CDC GDPinfo	2131	Hs.492618			Clinical genetics. 2005 Dec;68(6):542-7	An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.		608177	16564	2	2005												
122588	Y	hereditary multiple exostoses	OTHER	OTH	Exostoses, Multiple Hereditary	11	11p12-p11	EXT2	44073674	44223556		Kobayashi S et al. 2000	10679296				Exostoses (multiple) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000401.2			KGB	2132	Hs.368404			Biochemical and biophysical research communications. 2000 Feb;268(3):860-7	Association of EXT1 and EXT2 hereditary multiple exostoses gene products in Golgi apparatus.		608210	2451	1	2000												
122589		Hereditary multiple exostoses	OTHER	OTH	Neoplasms|Exostoses, Multiple Hereditary	11	11p12-p11	EXT2	44073674	44223556		Vujic M 2004	14654969				Exostoses (multiple) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000401.2			KGB	2132	Hs.368404			International journal of molecular medicine. 2004 Jan;13(1):47-52	Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.		608210	2452	1	2004												
122583	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q42-q43	EXO1	240078157	240119671		Yamamoto, H.  et al. 2005	15550454				Exonuclease 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006027.3	Japanese	Japan	CDC GDPinfo	9156	Hs.498248			Carcinogenesis. 2005 Feb;26(2):411-6	Single nucleotide polymorphisms in the EXO1 gene and risk of colorectal cancer in a Japanese population.		606063	10440	2	2005	This is the first report to provide evidence for an association of EXO1 gene polymorphisms with colorectal cancer risk. The EXO1 genotypes were not associated with any clinicopathological characteristics in colorectal cancer patients.	Cohort colorectal cancer patients 										
122584	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	1	1q42-q43	EXO1	240078157	240119671		Jagmohan-Changur, S.  et al. 2003	12517792				Exonuclease 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006027.3			CDC GDPinfo	9156	Hs.498248			Cancer research. 2003 Jan;63(1):154-8	EXO1 Variants Occur Commonly in Normal Population:Evidence against a Role in Hereditary Nonpolyposis Colorectal Cancer		606063	16562	2	2003	Several variants observed in patients were also observed in controls with similar frequencies, including the truncating variant proposed previously to be a disease-causing mutation. Thus, little evidence was obtained to support a major causative role of EXO1 in HNPCC, although we cannot exclude a role for EXO1 as a low penetrance cancer susceptibility or modifying gene.	Case European familal colorectal cancer cases;Control population controls										
122585		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	1	1q42-q43	EXO1	240078157	240119671		Zienolddiny, S.  et al. 2005	16195237				Exonuclease 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006027.3			CDC GDPinfo	9156	Hs.498248			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		606063	27710	2	2005												
122580		systemic lupus erythematosus	OTHER	OTH	Lupus Erythematosus, Systemic	11	11q23.3	ETS1	127833869	127962663		Sullivan KE 2000	10874305				V-ets erythroblastosis virus E26 oncogene homolog 1 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005238.2			Y Wang	2113	Hs.369438			Human mutation. 2000 ;16(1):49-53	3' polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.		164720	2448	1	2000												
122581		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q23.3	ETS1	127833869	127962663		Aparicio JM 2004	1982251				V-ets erythroblastosis virus E26 oncogene homolog 1 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005238.2	Japanese	Japan	Y Wang	2113	Hs.369438			Disease markers. 1990 Sep-Oct;8(5):283-94	Non-HLA genetic factors and insulin dependent diabetes mellitus in the Japanese: TCRA, TCRB and TCRG, INS, THY1, CD3D and ETS1		164720	2449	1	2004												
122582		childhood acute lymphoblastic leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Translocation, Genetic	12	12p13	TEL	11694054	11939592		Raynaud S et al. 1996	8639909				ets variant gene 6 (TEL oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001987			KGB	2120	Hs.504765			Blood. 1996 Apr;87(7):2891-9	The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.		600618	2450	1	1996												
122576		bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Lau, H. H.  et al. 2005	15781005				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Chinese		CDC GDPinfo	2100	Hs.443150			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		601663	25983	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
122577		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Fukatsu, T.  et al. 2004	15330195				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese	Japan	CDC GDPinfo	2100	Hs.443150			Anticancer research. 2004 Jul-Aug;24(4):2431-7	Genetic polymorphisms of hormone-related genes and prostate cancer risk in the Japanese population.		601663	25984	2	2004	This pilot study showed that CYP1B1 and PR polymorphisms, alone or in combination, might be associated with prostate cancer risk. They might, therefore, have potential as a tool for identifying high-risk individuals.	Case:147 Japanese prostate cancer patients;Control:266 urological controls										
122578		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Iwai, N.  et al. 2004	15167446				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese	Japan	CDC GDPinfo	2100	Hs.443150			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		601663	27419	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
122572		colon cancer; rectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	14	14q	ESR2	63763503	63875021		Slattery ML, et al.Cancer Epidemiol Biomarkers Pre	16365013				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Cancer epidemiology, biomarkers & prevention. 2005	Associations between ERalpha, ERbeta, and AR genotypes and colon and rectal cancer		601663	24378	2	2005	Our results suggest that the ERbeta gene is more important than ERalpha in the etiology of colorectal cancer.		hormone replacement therapy									
122573		infertility, male	REPRODUCTION	REP	Infertility, Male	14	14q	ESR2	63763503	63875021		Galan, J. J.  et al. 2005	16213843				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Fertility and sterility. 2005 Oct;84(4):910-8	Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.		601663	24379	2	2005												
122574		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Massart, F.  et al. 2004	15698546				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):413-8	Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm.		601663	24380	2	2004	No difference in ELN, ERalpha, PR and TGFbeta1 allele frequencies was observed in AAA patients versus controls (P>0.05). However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2)=5.220; OR=1.82, P<0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility.	Control:225 healthy Caucasian controls (mean age 71.20+/-6.85:years);Case:99 unrelated Caucasian abdominal aortic aneurysm patients (mean age 69.8+/-7.1 years)										
122568	Y	hormone disturbance	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Westberg, L.  et al. 2004	15272917				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Clinical endocrinology. 2004 Aug;61(2):216-23	Polymorphisms in oestrogen and progesterone receptor genes: possible influence on prolactinlevels in women.		601663	21305	2	2004	 These data suggest that genetic variants of both the ERbeta and the PGR may influence prolactin release.	Cohort 270 42-year-old women 										
122569		androgen levels	OTHER	OTH		14	14q	ESR2	63763503	63875021		Westberg, L.  et al. 2001	11397855				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2562-8	Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women.		601663	24375	2	2001	Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ERbeta gene, respectively.	Cohort 270 women from a population based cohort 										
122570		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	14	14q	ESR2	63763503	63875021		Fytili, P.  et al. 2005	16098017				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Clinical genetics. 2005 Sep;68(3):268-77	Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis.		601663	24376	2	2005												
122571		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q	ESR2	63763503	63875021			16317584				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Breast cancer research and treatment. 2005	Microsatellite profile in hormonal receptor genes associated with breast cancer		601663	24377	2	2005												
122565	N	osteoporosis	METABOLIC	MET	Osteoporosis|Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Fountas, L.  et al. 2004	15258723				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Osteoporosis international. 2004 Dec;15(12):948-56	Estrogen receptor alpha gene analysis in osteoporosis and familial osteoporosis.		601663	21302	2	2004	Genetic alterations in exons 1 and 2 of ERalpha are not associated to osteoporosis and familial osteoporosis. Moreover, the codon 10 and codon 87 polymorphisms do not seem to be correlated with BMD and bone turnover markers.	Control:62 unrelated normal subjects (age 46.1+/-9.5 years);Case:72 unrelated osteoporotic subjects (age 52.3+/-7.9:years)										
122566		breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Gold, B.  et al. 2004	15604249				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Cancer research. 2004 Dec;64(24):8891-900	Estrogen receptor genotypes and haplotypes associated with breast cancer risk.		601663	21303	2	2004	We define several other haplotypes in Ashkenazi Jews in both ESR1 and ESR2 that may elevate susceptibility to breast cancer. In contrast, we found no association between any PGR variant or haplotype and breast cancer. Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk.	Cohort 1,011 individuals with histologically confirmed breast cancer New York City 										
122567		menarche	REPRODUCTION	REP		14	14q	ESR2	63763503	63875021		Stavrou, I.  et al. 2005	16210384				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Human reproduction (Oxford, England). 2006 Feb;21(2):554-7	Combined estrogen receptor {alpha} and estrogen receptor {beta} genotypes influence the age of menarche.		601663	21304	2	2005	 Combined ERalpha and ERbeta polymorphisms may influence the age of menarche.											
122562		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	14	14q	ESR2	63763503	63875021		Evangelopoulos, D.  et al. 2003	12691862				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Clinica chimica acta; international journal of clinical chemistry. 2003 May;331(2-Jan):37-44	Molecular analysis of the estrogen receptor alpha gene in men with coronary artery disease:association with disease status.		601663	21299	2	2003	 We conclude that ERalpha genotypes play no role in the incidence of CAD disease, however, ERalpha codon 10 may be a genetic factor controlling some vessels' angiographic complications.	Case:40 men with coronary artery disease;Control:50 healthy men										
122563		bone density	METABOLIC	MET	Osteoporosis	14	14q	ESR2	63763503	63875021		Khosla, S.  et al. 2004	15070949				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2004 Apr;89(4):1808-16	Relationship of Estrogen Receptor Genotypes to Bone Mineral Density and to Rates of Bone Loss in Men		601663	21300	2	2004	These data thus indicate that the ER-alpha genotype may modulate the relationship between BMD or rates of bone loss and estrogen levels in men and that bone mass in men with the X or P alleles may be more susceptible to the consequences of estrogen deficiency (and conversely, benefit most from estrogen sufficiency) than in men with the xx or pp genotypes.	Cohort 283 randomly sampled men stratified by age Rochester, Minnesota 										
122564	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		14	14q	ESR2	63763503	63875021		Ellis, J. A.  et al. 2004	15167447				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Journal of hypertension. 2004 Jun;22(6):1127-31	Sex-dependent association of blood pressure with oestrogen receptor genes ERalpha and ERbeta		601663	21301	2	2004	These results suggest that ERalpha and ERbeta may be involved in the genetic regulation of blood pressure in men, that the two genes may have different roles, and that these genes may contribute to the differences in blood pressures between the sexes.	Cohort 718 unrelated healthy white individuals (386 men and 332 women) from the parental generation of the Victorian Family Heart Study 										
122559		left ventricular mass; left ventricular wall thickness	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	14	14q	ESR2	63763503	63875021		Peter, I.  et al. 2005	16280269				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			American journal of hypertension. 2005 Nov;18(11):1388-95	Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women.		601663	21296	2	2005	 The ESR2 polymorphisms are associated with LV structural differences in women with hypertension in a community-based population. These data are consistent with the hypothesis that genetic factors may mediate part of the observed sex-based differences in LV structure and remodeling.											
122560		anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	14	14q	ESR2	63763503	63875021		Eastwood, H.  et al. 2002	11803451				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		England	CDC GDPinfo	2100	Hs.443150			Molecular psychiatry. 2002 ;7(1):86-9	Variation in the ESR1 and ESR2 genes and genetic susceptibility to anorexia nervosa.		601663	21297	2	2002	Analysis of haplotypes at ESR1 and ESR2 showed no significant evidence of association with AN suggesting that the variability in ESR2 alone may contribute to the genetic susceptibility to AN.	Case:170 female, Caucasian AN sufferers;Control:52 female controls										
122561	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Chistiakov, D.  et al. 2002	11887032				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Russian	Russia	CDC GDPinfo	2100	Hs.443150			Medical science monitor. 2002 Mar;8(3):CR180-4	Further studies of genetic susceptibility to Graves' disease in a Russian population.		601663	21298	2	2002	 The D727E variant of the TSHR gene is associated with Graves' disease in a Russian population. The E727 allele and the heterozygous D727E genotype are related to higher risk of the disease. No association with GD was found for polymorphic microsatellites of the ESR1 and ESR2 gene.	Case:78 urelated Russian patients with Graves' disease;Control:93 control subjects not otherwise specified in:abstract										
122556	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Wang, Z.  et al. 2004	15193490				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese		CDC GDPinfo	2100	Hs.443150			Fertility and sterility. 2004 Jun;81(6):1650-6	Polymorphisms in the estrogen receptor beta gene but not estrogen receptor alpha gene affect the risk of developing endometriosis in a Japanese population.		601663	21293	2	2004	The AluI polymorphism in the ERbeta gene is associated with an increased risk of stage IV endometriosis in a Japanese population.	Case:132 Japanese women diagnosed with endometriosis by laparotomy or laparoscopy;Control:182:controls										
122557		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Mansur Ade, P.  et al. 2005	16099331				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Archives of medical research. 2005 Sep-Oct;36(5):511-7	Genetic polymorphisms of estrogen receptors in patients with premature coronary artery disease.		601663	21294	2	2005	 Our data suggest that mutation of the ESR2 is an independent risk marker for premature CAD.											
122558		varicose ulcers	CARDIOVASCULAR	CARD	Varicose Ulcer|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Ashworth, J. J.  et al. 2005	16153823				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of steroid biochemistry and molecular biology. 2005 Nov;97(3):266-70	The dinucleotide (CA) repeat polymorphism of estrogen receptor beta but not the dinucleotide (TA) repeat polymorphism of estrogen receptor alpha is associated with venous ulceration.		601663	21295	2	2005												
122552		Alzheimer's Disease	NEUROLOGICAL	NEUR	Breast Neoplasms|Alzheimer Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Pirskanen, M.  et al. 2005	15944651				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			European journal of human genetics. 2005 Sep;13(9):1000-6	Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women.		601663	21289	2	2005												
122553		ovulatory dysfunctions	REPRODUCTION	REP	Menstruation Disturbances	14	14q	ESR2	63763503	63875021		Sundarrajan, C.  et al. 2001	11231990				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):135-9	Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders.		601663	21290	2	2001		Case patients with ovulatory dysfunction;Control:controls										
122554	N	uterine cancer	CANCER	CAN	Leiomyoma|Uterine Neoplasms	14	14q	ESR2	63763503	63875021		Massart, F.  et al. 2003	12552233				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Medical science monitor. 2003 Jan;9(1):BR25-30	Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas.		601663	21291	2	2003	 Polymorphisms in the genes encoding for ERalpha, ERbeta and PR did not correlate with the occurrence of uterine leiomyomas in our Caucasian population.	Case:188 premenopausal women affected by uterine leiomyomas;Control:225 post-menopausal healthy controls										
122548		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q	ESR2	63763503	63875021		Forsell, C.  et al. 2001	11781694				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			European journal of human genetics. 2001 Oct;9(10):802-4	Investigations of a CA repeat in the oestrogen receptor beta gene in patients with Alzheimer's disease.		601663	16540	2	2001	In conclusion, our findings suggest the ERbeta allele 5 to be a protective factor. However, this has to be confirmed in a larger population.	Control:110 healthy age-matched controls;Case:336 Alzheimer's disease cases										
122549		prostate cancer	CANCER	CAN		14	14q	ESR2	63763503	63875021		Xu, L.  et al. 2003	12865336				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Endocrinology. 2003 Aug;144(8):3541-6	Human estrogen receptor beta 548 is not a common variant in three distinct populations.		601663	16544	2	2003	it is concluded that hERbeta548 is not a common variant in Africans, Caucasians, or Asians.	Cohort 96/100/128 African (n = 96), Caucasian (n = 100), and Asian (n = 128) subjects 										
122550	Y	breast cancer	CANCER	CAN	Breast Neoplasms	14	14q	ESR2	63763503	63875021		Zheng, S. L.  et al. 2003	14633679				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Chinese		CDC GDPinfo	2100	Hs.443150			Cancer research. 2003 Nov;63(22):7624-9	Joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women.		601663	16545	2	2003	Our results are consistent with the hypothesis of a joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk.	Case:1,134 postmenopausal breast cancer cases;Control:1,235:controls	estrogen menstruation									
122544		menopause; premenstrual symptoms	REPRODUCTION	REP	Headache|Premenstrual Syndrome|Hot Flashes	14	14q	ESR2	63763503	63875021		Takeo, C.  et al. 2005	16115604				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		Japan	CDC GDPinfo	2100	Hs.443150			Gender medicine. 2005 Jun;2(2):96-105	Association of cytosine-adenine repeat polymorphism of the estrogen receptor-beta gene with menopausal symptoms.		601663	10434	2	2005	 CA repeat polymorphism of the ERbeta gene may be associated with menopausal and premenstrual symptoms. Premenstrual symptom scores were significantly related to menopausal symptom scores.											
122545	Y	bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Ichikawa, S.  et al. 2005	16118344				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Caucasian		CDC GDPinfo	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2005 Nov;90(11):5921-7	Polymorphisms in the estrogen receptor beta (ESR2) gene are associated with bone mineral density in Caucasian men and women.		601663	10435	2	2005	 ESR2 polymorphisms are significantly associated with bone mass in both men and women. However, the ESR2 gene is not entirely responsible for our original linkage, and an additional gene(s) in chromosome 14q contributes to the determination of BMD.											
122546		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	14	14q	ESR2	63763503	63875021		Efstathiadou, Z.  et al. 2005	16125346				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Greek		CDC GDPinfo	2100	Hs.443150			Maturitas. 2005	Correlation of estrogen receptor beta gene polymorphisms with spinal bone mineral density in peri- and post-menopausal Greek women.		601663	10436	2	2005												
122540	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Hakansson, A.  et al. 2005	15635591				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):88-92	Interaction of polymorphisms in the genes encoding interleukin-6 and estrogen receptor beta on the susceptibility to Parkinson's disease.		601663	10428	2	2005	Our results indicate that the G-174C SNP in the IL-6 promoter may influence the risk for developing PD, particularly regarding early age of onset PD, and that the effect is modified by interaction of the G-1730A SNP in the ERbeta gene.	Case:258 patients with Parkinson's disease;Control:308:controls		IL-6 promoter	G-174C SNP	ERbeta	G-1730A SNP			Y		Parkinson's disease
122541		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Hypertension	14	14q	ESR2	63763503	63875021		Maruyama, A.  et al. 2004	15894829				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Hypertension research. 2004 Dec;27(12):903-9	Association study using single nucleotide polymorphisms in the estrogen receptor beta (ESR2) gene for preeclampsia.		601663	10429	2	2004	Thus, a possible mutation linked to a SNP may prescribe a genetic predisposition for patients with a family history of hypertension in PE.	Control:160 age-matched non-preeclamptic ubjects;Case:84 preeclamptic patients	family history									
122542	Y	infertility, male	REPRODUCTION	REP	Germinoma|Testicular Neoplasms|Infertility, Male|Hypospadias|Cryptorchidism	14	14q	ESR2	63763503	63875021		Aschim, E. L.  et al. 2005	15998774				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Swedish men		CDC GDPinfo	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5343-8	The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility.	rs1256049	601663	10430	2	2005	 Polymorphisms in ERbeta may have modulating effects on human spermatogenesis. The phenotype of TDS seems to be, at least partly, determined by the genotype.											
122537	N	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Prenatal Exposure Delayed Effects	14	14q	ESR2	63763503	63875021		Setiawan, V. W.  et al. 2004	15280642				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		United States	CDC GDPinfo	2100	Hs.443150			Cancer causes & control. 2004 Aug;15(6):627-33	Estrogen Receptor beta lpar; ESR2 ) Polymorphisms and Endometrial Cancer (United States)		601663	10424	2	2004	 Our results indicate that ESR2 polymorphisms may not be associated with endometrial cancer risk.	Case:222 endometrial cancer cases from the Nurses' Health:Study;Control:666:controls	body mass hormone replacement therapy									
122538	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	14	14q	ESR2	63763503	63875021		Scariano, J. K.  et al. 2004	15354857				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Calcified tissue international. 2004 Jun;74(6):501-8	Estrogen receptor beta dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women		601663	10426	2	2004	Because the ESR2 CA repeat size was neither associated with change in BMD nor serum levels of biochemical markers of bone turnover, it is likely that ESR2 CA repeat genotype is significantly linked to the attainment of peak bone mass in women.	Cohort 226 healthy women (60-98 years) 										
122539		cholesterol; cholesterol, LDL	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Almeida, S.  et al. 2005	15381922				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The pharmacogenomics journal. 2005 ;5(1):30-4	Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status.		601663	10427	2	2005			hormone replacement therapy menopause									
122534	Y	bulimia	PSYCH	PSY	Bulimia	14	14q	ESR2	63763503	63875021		Nilsson, M.  et al. 2004	14699439				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Molecular psychiatry. 2004 Jan;9(1):28-34	Association of estrogen receptor beta gene polymorphisms with bulimic disease in women		601663	10419	2	2004	Our findings point towards a possible role of ERbeta and/or neighboring genes in the etiology of disease in bulimic patients.	Control:60:controls;Case:76 bulimic women										
122535	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	14	14q	ESR2	63763503	63875021		Scariano, J. K.  et al. 2004	15354857				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Calcified tissue international. 2004 Jun;74(6):501-8	Estrogen Receptor beta Dinucleotide (CA) Repeat Polymorphism is Significantly Associated with Bone Mineral Density in Postmenopausal Women		601663	10420	2	2004	Because the ESR2 CA repeat size was neither associated with change in BMD nor serum levels of biochemical markers of bone turnover, it is likely that ESR2 CA repeat genotype is significantly linked to the attainment of peak bone mass in women.	Cohort 226 healthy women 										
122536	Y	bone mass	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Shearman, A. M.  et al. 2004	15068501				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Journal of bone and mineral research. 2004 May;19(5):773-81	Estrogen receptor Beta polymorphisms are associated with bone mass in women and men: the framinghamstudy		601663	10421	2	2004	 We have observed significant association of common ESR2 variants with measures of femoral BMD in both men and women.	Cohort 723/795 men (n=723) and women (n=795) (mean age, 60 years) from the offspring cohort of the population-based Framingham Study 										
122531		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	14	14q	ESR2	63763503	63875021		Arko, B.  et al. 2002	12137804				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The Journal of steroid biochemistry and molecular biology. 2002 Jun;81(2):147-52	No major effect of estrogen receptor beta gene RsaI polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis.		601663	10414	2	2002	Our results suggest that RsaI polymorphism of ERbeta gene is probably not an important genetic determinant of BMD and does not significantly influence the responsiveness to alendronate therapy.	Cohort 79 Slovenian postmenopausal women with osteoporosis 	alendronate									
122532	Y	bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Lau, H. H.  et al. 2002	12151079				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Chinese		CDC GDPinfo	2100	Hs.443150			Bone. 2002 Aug;31(2):276-81	Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women.		601663	10415	2	2002	We conclude that  ER beta gene polymorphisms are associated with higher BMD in premenopausal women, suggesting that the ER beta gene may have a modulatory role in bone metabolism in young adulthood.	Cohort 325 healthy southern Chinese women 										
122533		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q	ESR2	63763503	63875021		Forsti, A.  et al. 2003	12846425				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Breast cancer research and treatment. 2003 Jun;79(3):409-13	Polymorphisms in the estrogen receptor beta gene and risk of breast cancer: no association.		601663	10418	2	2003	No difference in the allele distribution of the six studied polymorphisms was found between the breast cancer and control groups.	Case:219 Finnish sporadic breast cancer cases;Control:248 ethnically matched male controls										
122527	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	14	14q	ESR2	63763503	63875021		Ogawa S et al. 2000	11185739				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			KGB	2100	Hs.443150			Journal of human genetics. 2000 ;45(6):327-30	Association of estrogen receptor beta (ESR2) gene polymorphism with blood pressure.		601663	2445	1	2000												
122528	Y	bone mineral density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Ogawa S et al. 2000	10708589				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			KGB	2100	Hs.443150			Biochemical and biophysical research communications. 2000 Mar;269(2):537-41	Association of estrogen receptor beta gene polymorphism with bone mineral density.		601663	2446	1	2000												
122530	N	bone density; Graves' disease; thyroiditis, Hashimoto's	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Ban, Y.  et al. 2001	11180758				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese		CDC GDPinfo	2100	Hs.443150			BMC medical genetics [electronic resource]. 2001 ;2:1	Lack of association between estrogen receptor beta dinucleotide repeat polymorphism and autoimmune thyroid diseases in Japanese patients		601663	10411	2	2001	 The present results do not support an association between the ERbeta microsatellite marker and AITD in the Japanese population. We also suggest that the ERbeta microsatellite polymorphism has at most a minor pathogenic importance in predicting the risk of osteoporosis as a complication of GD.	Case:114 patients with Hashimoto's thyroidosis;Case:133 patients with Grave's Disease;Control:179 unspecified controls										
122524		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q25.1	ESR1	152053407	152466099		Prince, J. A.  et al. 2001	11436125				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Sweden	CDC GDPinfo	2099	Hs.208124			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		133430	27906	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
122525	Y	menstrual disorders	REPRODUCTION	REP	Menstruation Disturbances	14	14q	ESR2	63763503	63875021		Sundarrajan C et al. 2001	11231990				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			KGB	2100	Hs.443150			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):135-9	Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders.		601663	2443	1	2001		Case patients with ovulatory dysfunction;Control:controls										
122526	Y	bone mineral density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Lau HH et al. 2002	12151079				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Chinese		KGB	2100	Hs.443150			Bone. 2002 Aug;31(2):276-81	Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal but not postmenopausal southern Chinese women.		601663	2444	1	2002	We conclude that  ER beta gene polymorphisms are associated with higher BMD in premenopausal women, suggesting that the ER beta gene may have a modulatory role in bone metabolism in young adulthood.	Cohort 325 healthy southern Chinese women										
122521		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Huber, A.  et al. 2005	16202920				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		133430	27417	2	2005												
122522		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Huber, A.  et al. 2005	16260521				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		133430	27418	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
122523		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Liu, Y.  et al. 2005	15654505				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese	Japan	CDC GDPinfo	2099	Hs.208124			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		133430	27709	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
122518		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Comings, D. E.  et al. 2003	12712467				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		133430	25981	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
122519		bone density	NORMALVARIATION	NV		6	6q25.1	ESR1	152053407	152466099		Willing, M. C.  et al. 2003	12879219				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		133430	26857	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
122520		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Iwai, N.  et al. 2004	15167446				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese	Japan	CDC GDPinfo	2099	Hs.208124			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		133430	26858	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
122515		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Fukatsu, T.  et al. 2004	15330195				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese	Japan	CDC GDPinfo	2099	Hs.208124			Anticancer research. 2004 Jul-Aug;24(4):2431-7	Genetic polymorphisms of hormone-related genes and prostate cancer risk in the Japanese population.		133430	24374	2	2004	This pilot study showed that CYP1B1 and PR polymorphisms, alone or in combination, might be associated with prostate cancer risk. They might, therefore, have potential as a tool for identifying high-risk individuals.	Case:147 Japanese prostate cancer patients;Control:266 urological controls										
122516		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Guo, S. W.   2005	16244490				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Gynecologic and obstetric investigation. 2005 Oct;61(2):90-105	Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis.		133430	25979	2	2005												
122517		menarche; menopause	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Gorai, I.  et al. 2003	12574216				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese		CDC GDPinfo	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2003 Feb;88(2):799-803	Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women.		133430	25980	2	2003	The results suggest that the estrogen-metabolizing CYP17 genotype influences age at menarche in healthy postmenopausal Japanese women.	Cohort 317 postmenopausal Japanese women, aged 46 yr and over 										
122512		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Modugno, F.  et al. 2001	11595700				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Clinical cancer research. 2001 Oct;7(10):3092-6	Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model ofprostate cancer risk.		133430	24371	2	2001	 Estrogen and aromatase may play a role in prostate cancer. A multigenic model of prostate cancer susceptibility is also supported.	Control:241 Caucasian male controls;Case:88 Caucasian prostate cancer patients										
122513		estradiol; sex hormone binding globulin	UNKNOWN	UNK	Breast Neoplasms	6	6q25.1	ESR1	152053407	152466099		Low, Y. L.  et al. 2005	15668497				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Europe	CDC GDPinfo	2099	Hs.208124			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):213-20	Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions.		133430	24372	2	2005	We conclude that  higher isoflavone exposure is associated with lower plasma estradiol in postmenopausal women and that this preliminary study is suggestive of the involvement of diet-gene interactions.	Cohort 125 free-living postmenopausal women taking part in a cohort study (European Prospective Investigation of Cancer and Nutrition-Norfolk) 	isoflavones phytoestrogen									
122514		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Donn, R. P.  et al. 2002	12154211				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Great Britain	CDC GDPinfo	2099	Hs.208124			Rheumatology (Oxford, England). 2002 Aug;41(8):930-6	Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.		133430	24373	2	2002	 The lack of association with polymorphisms of these neuroendocrine genes suggests that they are not involved in susceptibility to JIA.	Control:276 unrelated, healthy UK Caucasian controls;Case:463 clinically characterized UK Caucasian JIA patients										
122509		pregnancy loss, recurrent	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Sheehan, D.  et al. 2001	11383910				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Irish		CDC GDPinfo	2099	Hs.208124			Journal of endocrinological investigation. 2001 Apr;24(4):236-45	An assessment of genetic markers as predictors of bone turnover in healthy adults.		133430	24368	2	2001	These findings suggest that healthy Irish adults with either the tt or ff VDR genotype have higher rates of bone turnover than those with Tt or TT, or Ff or FF genotypes, respectively, and therefore may have a higher risk of low bone mineral density and osteoporosis in later life.	Cohort 118 healthy Irish adults (aged 19-67 yr) 										
122510		bone density; fractures	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Bandres, E.  et al. 2005	15966503				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Spanish	Spain	CDC GDPinfo	2099	Hs.208124			Journal of endocrinological investigation. 2005 Apr;28(4):312-21	Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women.		133430	24369	2	2005												
122511		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Lau, H. H.  et al. 2005	15781005				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		CDC GDPinfo	2099	Hs.208124			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		133430	24370	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
122506		bone density	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Dvornyk, V.  et al. 2003	12914574				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		CDC GDPinfo	2099	Hs.208124			Annals of human genetics. 2003 May;67(Pt 3):216-27	Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for EthnicDifference of Bone Mass		133430	24365	2	2003	If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.	Cohort 1,131 randomly selected individuals from Caucasian and Chinese populations 										
122507		bone density	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Dvornyk, V.  et al. 2005	16117875				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese, Caucasian		CDC GDPinfo	2099	Hs.208124			Chinese medical journal. 2005 Aug;118(15):1235-44	Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bonemass.		133430	24366	2	2005	 The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.											
122508		cardiovascular disease risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases	6	6q25.1	ESR1	152053407	152466099		Hall, W. L.  et al. 2005	16332659				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The American journal of clinical nutrition. 2005 Dec;82(6):1260-8; quiz 1365-6	Soy-isoflavone-enriched foods and inflammatory biomarkers of cardiovascular disease risk in postmenopausal women: interactions with genotypeand equol production		133430	24367	2	2005	 Isoflavones have beneficial effects on CRP concentrations, but not on other inflammatory biomarkers of cardiovascular disease risk in postmenopausal women, and may improve VCAM-1 in an ERbeta gene polymorphic subgroup.		diet									
122503		infertility, male	REPRODUCTION	REP	Infertility, Male	6	6q25.1	ESR1	152053407	152466099		Galan, J. J.  et al. 2005	16213843				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Fertility and sterility. 2005 Oct;84(4):910-8	Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.		133430	21287	2	2005												
122504		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Massart, F.  et al. 2004	15698546				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):413-8	Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm.		133430	21288	2	2004	No difference in ELN, ERalpha, PR and TGFbeta1 allele frequencies was observed in AAA patients versus controls (P>0.05). However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2)=5.220; OR=1.82, P<0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility.	Control:225 healthy Caucasian controls (mean age 71.20+/-6.85:years);Case:99 unrelated Caucasian abdominal aortic aneurysm patients (mean age 69.8+/-7.1 years)										
122505		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Katsumata, K.  et al. 2002	11984699				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese		CDC GDPinfo	2099	Hs.208124			Journal of bone and mineral metabolism. 2002 ;20(3):164-9	Association of gene polymorphisms and bone density in Japanese girls.		133430	24364	2	2002	These results suggest that the Fok I polymorphism of the VDR gene and the Dra II polymorphism of the PTH gene are risk factors for low bone density in Japanese girls.	Cohort 125 healthy Japanese girls (age, 13.4 +/- 0.89 years; range, 12-15 years) 										
122500		bone cancer	CANCER	CAN	Bone Neoplasms|Body Weight	6	6q25.1	ESR1	152053407	152466099		Ruza, E.  et al. 2003	14528100				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of pediatric hematology/oncology. 2003 Oct;25(10):780-6	Analysis of Polymorphisms of the Vitamin D Receptor, Estrogen Receptor, and Collagen Ialpha1 Genes and Their Relationship With Height in Children With Bone Cancer		133430	21284	2	2003	 Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene.	Control standards published for Spanish reference children according to sex and age;Case:58/36 osteosarcoma (n=58) and Ewing sarcoma (n=36):patients										
122501	N	menopause	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Kok, H. S.  et al. 2004	15539439				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Dutch		CDC GDPinfo	2099	Hs.208124			Human reproduction (Oxford, England). 2005 Feb;20(2):536-42	No association of estrogen receptor alpha and cytochrome P450c17alpha polymorphisms with age at menopause in a Dutch cohort.		133430	21285	2	2004	 No evidence was found for a relationship between common variants of the ERalpha gene and the CYP17 gene with age at natural menopause.	Cohort 358 Caucasian women with natural menopause 										
122502		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Hsieh, Y. Y.  et al. 2005	15749482				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Fertility and sterility. 2005 Mar;83(3):567-72	Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis.		133430	21286	2	2005	ERalpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.	Control:108 normal controls;Case:119 women with endometriosis										
122497		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Colson, N. J.  et al. 2005	15654614				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Neurogenetics. 2005 Feb;6(1):17-23	Investigation of hormone receptor genes in migraine.		133430	21281	2	2005												
122498		osteoporosis	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Gennari, L.  et al. 2002	12127038				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of steroid biochemistry and molecular biology. 2002 May;81(1):24-Jan	Genetics of osteoporosis: role of steroid hormonereceptor gene polymorphisms.		133430	21282	2	2002	Review article											
122499		osteoporosis, postmenopausal; estradiol	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Brodowska, A.   2003	15552843				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Annales Academiae Medicae Stetinensis. 2003 ;49:111-30	[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes]		133430	21283	2	2003	The following conclusions were drawn: 1. There is no connection between VDR and ER gene polymorphism and degree of osteoporosis before treatment. 2. XX, PP and Bb markers or X, P, B alleles are associated with a significant decrease in therapeutic efficacy. Nevertheless, satisfactory results were achieved in each woman with primary osteoporosis. 3. Estradiol concentration in serum before and during HRT does not depend on the polymorphism of VDR and ER genes.	Cohort 44 postmenopausal women aged 44-75 years with primary osteoporosis on cyclic HRT (hormonal replacement therapy) 	calcium hormone replacement therapy physical activity Vitamin D									
122493		androgen levels	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		Westberg, L.  et al. 2001	11397855				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2562-8	Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women.		133430	21277	2	2001	Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ERbeta gene, respectively.	Cohort 270 women from a population based cohort 										
122494		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	6	6q25.1	ESR1	152053407	152466099		Fytili, P.  et al. 2005	16098017				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Clinical genetics. 2005 Sep;68(3):268-77	Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis.		133430	21278	2	2005												
122496		colon cancer; rectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	6	6q25.1	ESR1	152053407	152466099		Slattery ML, et al.Cancer Epidemiol Biomarkers Pre	16365013				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Cancer epidemiology, biomarkers & prevention. 2005	Associations between ERalpha, ERbeta, and AR genotypes and colon and rectal cancer		133430	21280	2	2005	Our results suggest that the ERbeta gene is more important than ERalpha in the etiology of colorectal cancer.		hormone replacement therapy									
122490		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6q25.1	ESR1	152053407	152466099		Tempfer, C. B.  et al. 2004	15120696				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		133430	21274	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
122491		dementia	PSYCH	PSY	Dementia|Alzheimer Disease|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Lin, G. F.  et al. 2003	12852830				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese	China	CDC GDPinfo	2099	Hs.208124			Acta pharmacologica Sinica. 2003 Jul;24(7):651-6	Polymorphism of alpha-estrogen receptor and aryl hydrocarbon receptor genes in dementia patients in Shanghai suburb.		133430	21275	2	2003	 The distribution of ER polymorphisms was significantly different between Chinese and some other ethnic populations. The results suggested that ER-alpha gene polymorphisms might be related to the individual susceptibility to AD, especially in the females. However, it did not support the association of Ahr gene polymorphism with higher risk of senile dementia.	Control:125 healthy individuals selected from the same:community;Case:52 Chinese senile demential patients:Shanghai, China										
122492		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Otsuki, T.  et al. 2004	15375600				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			International journal of molecular medicine. 2004 Oct;14(4):669-76	Effects of genetic and nutritional factors on bone mineral density in young adults		133430	21276	2	2004	These results suggested that a complex array of genetic factors, such as two or more SNPs or SNPs and gender, may be important to BMD.	Cohort 53 healthy volunteers 										
122487		menarche	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Stavrou, I.  et al. 2005	16210384				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Human reproduction (Oxford, England). 2006 Feb;21(2):554-7	Combined estrogen receptor {alpha} and estrogen receptor {beta} genotypes influence the age of menarche.		133430	16554	2	2005	 Combined ERalpha and ERbeta polymorphisms may influence the age of menarche.											
122488	Y	bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Yang, X.  et al. 2003	12895309				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Zhonghua fu chan ke za zhi. 2003 May;38(5):273-6	[Study on the relationship between some genetic factors and peak bone mineral density in Beijing young women]		133430	20143	2	2003	 (1) Body weight and BMI play important roles to PBMD of Beijing women. (2) There was no significant difference of BMD levels between VDR genotypes at any site. (3) PvuII polymorphism of ER gene was associated with low Ward triangle BMD. (4) There was significant relationship between the combination of ER and VDR polymorphisms at lumbar and hip BMD. Our data suggest that genetic variation at the ER locus, singly and in relation to the VDR locus, may influence the attainment and maintenance of peak bone mass in young women.	Cohort 159 volunteer young women Beijing 										
122489		cholestasis	METABOLIC	MET	Cholestasis|Pregnancy Complications	6	6q25.1	ESR1	152053407	152466099		Eloranta, M.  et al. 2002	12206920				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Finnish	Finland	CDC GDPinfo	2099	Hs.208124			European journal of obstetrics, gynecology, and reproductive biology. 2002 Sep;104(2):109-12	Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.		133430	21273	2	2002	 The present data indicate that polymorphism of the ERalpha gene and MDR3 gene 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest.	Control:47 healthy control women;Case:57 women with diagnosis of obsteric cholestasis										
122484	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		6	6q25.1	ESR1	152053407	152466099		Ellis, J. A.  et al. 2004	15167447				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of hypertension. 2004 Jun;22(6):1127-31	Sex-dependent association of blood pressure with oestrogen receptor genes ERalpha and ERbeta		133430	16547	2	2004	These results suggest that ERalpha and ERbeta may be involved in the genetic regulation of blood pressure in men, that the two genes may have different roles, and that these genes may contribute to the differences in blood pressures between the sexes.	Cohort 718 unrelated healthy white individuals (386 men and 332 women) from the parental generation of the Victorian Family Heart Study 										
122485	N	osteoporosis	METABOLIC	MET	Osteoporosis|Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Fountas, L.  et al. 2004	15258723				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Osteoporosis international. 2004 Dec;15(12):948-56	Estrogen receptor alpha gene analysis in osteoporosis and familial osteoporosis.		133430	16549	2	2004	Genetic alterations in exons 1 and 2 of ERalpha are not associated to osteoporosis and familial osteoporosis. Moreover, the codon 10 and codon 87 polymorphisms do not seem to be correlated with BMD and bone turnover markers.	Control:62 unrelated normal subjects (age 46.1+/-9.5 years);Case:72 unrelated osteoporotic subjects (age 52.3+/-7.9:years)										
122486	N	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Gold, B.  et al. 2004	15604249				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Cancer research. 2004 Dec;64(24):8891-900	Estrogen receptor genotypes and haplotypes associated with breast cancer risk.		133430	16550	2	2004	We define several other haplotypes in Ashkenazi Jews in both ESR1 and ESR2 that may elevate susceptibility to breast cancer. In contrast, we found no association between any PGR variant or haplotype and breast cancer. Genetic epidemiology study replication and functional assays of the haplotypes should permit a better understanding of the role of steroid receptor genetic variants and breast cancer risk.	Cohort 1,011 individuals with histologically confirmed breast cancer New York City 										
122481	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Chistiakov, D.  et al. 2002	11887032				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Russian	Russia	CDC GDPinfo	2099	Hs.208124			Medical science monitor. 2002 Mar;8(3):CR180-4	Further studies of genetic susceptibility to Graves' disease in a Russian population.		133430	16542	2	2002	 The D727E variant of the TSHR gene is associated with Graves' disease in a Russian population. The E727 allele and the heterozygous D727E genotype are related to higher risk of the disease. No association with GD was found for polymorphic microsatellites of the ESR1 and ESR2 gene.	Case:78 urelated Russian patients with Graves' disease;Control:93 control subjects not otherwise specified in:abstract										
122482		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6q25.1	ESR1	152053407	152466099		Evangelopoulos, D.  et al. 2003	12691862				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Clinica chimica acta; international journal of clinical chemistry. 2003 May;331(2-Jan):37-44	Molecular analysis of the estrogen receptor alpha gene in men with coronary artery disease:association with disease status.		133430	16543	2	2003	 We conclude that ERalpha genotypes play no role in the incidence of CAD disease, however, ERalpha codon 10 may be a genetic factor controlling some vessels' angiographic complications.	Case:40 men with coronary artery disease;Control:50 healthy men										
122483	Y	bone density	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Khosla, S.  et al. 2004	15070949				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2004 Apr;89(4):1808-16	Relationship of Estrogen Receptor Genotypes to Bone Mineral Density and to Rates of Bone Loss in Men		133430	16546	2	2004	These data thus indicate that the ER-alpha genotype may modulate the relationship between BMD or rates of bone loss and estrogen levels in men and that bone mass in men with the X or P alleles may be more susceptible to the consequences of estrogen deficiency (and conversely, benefit most from estrogen sufficiency) than in men with the xx or pp genotypes.	Cohort 283 randomly sampled men stratified by age Rochester, Minnesota 										
122478	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q25.1	ESR1	152053407	152466099		Urakami, K.  et al. 2001	11774719				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Nippon Ronen Igakkai zasshi Japanese journal of geriatrics. 2001 Nov;38(6):769-71	[Analysis of causative genes and genetic risk factor in Alzheimer's disease]		133430	16538	2	2001	Polymorphism of the ER alpha gene may be a genetic risk factor for sporadic Alzheimer's disease.	Case sporadic Alzheimer's disease patients;Control controls not specified in abstract										
122479	Y	osteoporosis, postmenopausal; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Ongphiphadhanakul, B.  et al. 2005	15647972				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Osteoporosis international. 2005 Oct;16(10):1233-8	A specific haplotype in the 3' end of estrogen-receptor alpha gene is associated with low bone mineral density in premenopausal women and increased risk of postmenopausal osteoporosis.		133430	16539	2	2005	We concluded that a specific haplotype in the 3' end of the ERalpha gene is associated with lower BMD in premenopausal women and is associated with a higher risk of osteoporosis in postmenopausal women. It is likely that the haplotype allele exerts its influence on bone as early as during young adulthood to increase the risk of osteoporosis later in life.	Cohort 352/202 Thai postmenopausal (n=352) and premenopausal (n=202) women 										
122480	N	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	6	6q25.1	ESR1	152053407	152466099		Eastwood, H.  et al. 2002	11803451				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		England	CDC GDPinfo	2099	Hs.208124			Molecular psychiatry. 2002 ;7(1):86-9	Variation in the ESR1 and ESR2 genes and genetic susceptibility to anorexia nervosa.		133430	16541	2	2002	Analysis of haplotypes at ESR1 and ESR2 showed no significant evidence of association with AN suggesting that the variability in ESR2 alone may contribute to the genetic susceptibility to AN.	Case:170 female, Caucasian AN sufferers;Control:52 female controls										
122475		spinal ossification	UNKNOWN	UNK	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Ogata, N.  et al. 2002	12195069				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Japan	CDC GDPinfo	2099	Hs.208124			Spine. 2002 Aug;27(16):1765-71	Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity		133430	13401	2	2002	 The contribution of genetic backgrounds is likely to be stronger in women than in men with ossification of the posterior longitudinal ligament of the spine. Estrogen receptor polymorphism was associated with both initiation and promotion of the disorder, but interleukin-1beta polymorphism was associated only with its initiation in women.	Case:120 patients (77 men and 43 women) with ossification of the posterior longitudinal ligament of the spine;Control:306 ontrol subjects without the disorder (166 men and 140 women)										
122476	Y	spondylosis, lumbar	UNKNOWN	UNK	Spinal Osteophytosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099			16362385				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			European spine journal. 2005	Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women		133430	13404	2	2005	ER and VDR genes may contribute to lumbar spondylosis in a distinct manner: estrogen sensitivity influences the severity in the early phase after menopause while vitamin D plays an important role at older ages when the contribution of estrogen loss is weaker.											
122477		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6q25.1	ESR1	152053407	152466099		Choi, J. Y.  et al. 2005	16151677				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Korean	Korea	CDC GDPinfo	2099	Hs.208124			Calcified tissue international. 2005 Sep;77(3):152-9	Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women.		133430	14382	2	2005												
122472	Y	varicose ulcers	UNKNOWN	UNK	Varicose Ulcer|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Ashworth, J. J.  et al. 2005	16153823				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of steroid biochemistry and molecular biology. 2005 Nov;97(3):266-70	The dinucleotide (CA) repeat polymorphism of estrogen receptor beta but not the dinucleotide (TA) repeat polymorphism of estrogen receptor alpha is associated with venous ulceration.		133430	10437	2	2005												
122473		left ventricular mass; left ventricular wall thickness	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	6	6q25.1	ESR1	152053407	152466099		Peter, I.  et al. 2005	16280269				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			American journal of hypertension. 2005 Nov;18(11):1388-95	Association of estrogen receptor beta gene polymorphisms with left ventricular mass and wall thickness in women.		133430	10439	2	2005	 The ESR2 polymorphisms are associated with LV structural differences in women with hypertension in a community-based population. These data are consistent with the hypothesis that genetic factors may mediate part of the observed sex-based differences in LV structure and remodeling.											
122474	Y	bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Koh, J. M.  et al. 2002	12457453				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			European journal of endocrinology. 2002 Dec;147(6):777-83	Estrogen receptor alpha gene polymorphisms Pvu II and Xba I influence association between leptin receptor gene polymorphism (Gln223Arg) and bone mineral density in young men.		133430	12158	2	2002	 This study indicates that the Gln223Arg polymorphism of LEPR is important for determination of the peak bone mass in men and that it is influenced by ERalpha gene polymorphisms.	Cohort 219 healthy volunteers aged 10-34 years 										
122468		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Middleton, P. G.  et al. 2003	12815477				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Bone marrow transplantation. 2003 Jul;32(1):41-7	Oestrogen receptor alpha gene polymorphism associates with occurrence of graft-versus-host disease and reduced survival in HLA-matched sib-allo BMT.		133430	10417	2	2003	Variation in transplant performance because of ER genotype suggests an underlying role for oestrogens in the pathophysiology of transplant-related complications, and suggests that oestrogen-related therapy may offer a new modality of post-transplant support.	Cohort 108 patients receiving a bone marrow transplant from an HLA-matched sibling donor 										
122469	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Wang, Z.  et al. 2004	15193490				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese		CDC GDPinfo	2099	Hs.208124			Fertility and sterility. 2004 Jun;81(6):1650-6	Polymorphisms in the estrogen receptor beta gene but not estrogen receptor alpha gene affect the risk of developing endometriosis in a Japanese population.		133430	10422	2	2004	The AluI polymorphism in the ERbeta gene is associated with an increased risk of stage IV endometriosis in a Japanese population.	Case:132 Japanese women diagnosed with endometriosis by laparotomy or laparoscopy;Control:182:controls										
122470		hormone disturbance	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Westberg, L.  et al. 2004	15272917				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Clinical endocrinology. 2004 Aug;61(2):216-23	Polymorphisms in oestrogen and progesterone receptor genes: possible influence on prolactinlevels in women.		133430	10423	2	2004	 These data suggest that genetic variants of both the ERbeta and the PGR may influence prolactin release.	Cohort 270 42-year-old women 										
122465		femoral neck geometry	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		Xiong, D. H.  et al. 2005	16292600				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Caucasian		CDC GDPinfo	2099	Hs.208124			Osteoporosis international. 2005 Dec;16(12):2113-22	Association analysis of estrogen receptor alpha gene polymorphisms with cross-sectional geometry of the femoral neck in Caucasian nuclear families.		133430	10410	2	2005												
122466	Y	ovulatory dysfunctions	REPRODUCTION	REP	Menstruation Disturbances	6	6q25.1	ESR1	152053407	152466099		Sundarrajan, C.  et al. 2001	11231990				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):135-9	Association between estrogen receptor-beta gene polymorphisms and ovulatory dysfunctions in patients with menstrual disorders.		133430	10412	2	2001		Case patients with ovulatory dysfunction;Control:controls										
122467	N	uterine cancer	CANCER	CAN	Leiomyoma|Uterine Neoplasms	6	6q25.1	ESR1	152053407	152466099		Massart, F.  et al. 2003	12552233				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Medical science monitor. 2003 Jan;9(1):BR25-30	Analysis of estrogen receptor (ERalpha and ERbeta) and progesterone receptor (PR) polymorphisms in uterine leiomyomas.		133430	10416	2	2003	 Polymorphisms in the genes encoding for ERalpha, ERbeta and PR did not correlate with the occurrence of uterine leiomyomas in our Caucasian population.	Case:188 premenopausal women affected by uterine leiomyomas;Control:225 post-menopausal healthy controls										
122462		body mass; muscle testing	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Grundberg, E.  et al. 2005	15734595				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Swedish		CDC GDPinfo	2099	Hs.208124			Maturitas. 2005 Mar;50(3):153-60	A TA-repeat polymorphism in the gene for the estrogen receptor alpha does not correlate with muscle strength or body composition in young adult Swedish women.		133430	10406	2	2005	 The TA-repeat in the human ERalpha gene does not correlate with muscle strength or body mass measurements, indicating that body composition is not as sensitive to genetic variation in this receptor as other target organs for estrogen.	Cohort 175 randomly selected healthy Swedish women, aged 20-39 										
122463	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Lu, X.  et al. 2005	15842934				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		CDC GDPinfo	2099	Hs.208124			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Mar;43(5):290-3	[The XbaI and PvuII gene polymorphisms of the estrogen receptor alpha gene in Chinese women with breast cancer]		133430	10408	2	2005	 The XbaI gene polymorphism of ERalpha gene was associated with breast cancer risk, more significantly in postmenopausal women. The XbaI X allele could decrease the risk of breast cancer. No apparent effect of the PvuII gene polymorphisms of ERalpha gene was identified.	Case Chinese women with breast cancer;Control healthy Han Chinese										
122464	Y	bone mass	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Zhang, Z.  et al. 2005	16086289				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):447-9	[Association of Xba I, Pvu II, and Bst U I polymorphisms of estrogen receptor-alpha gene with bone mass in men]		133430	10409	2	2005	 This study suggests that Bst UI polymorphism in ER-alpha gene may be absent or rare in Chinese Han population. Pvu II polymorphism possibly influences the loss of trabecular bone mass in old men.											
122459		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis	6	6q25.1	ESR1	152053407	152466099		Vasconcelos, A.  et al. 2002	12100115	codon 325			Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Portugal	CDC GDPinfo	2099	Hs.208124			The breast journal. 2002 Jul-Aug;8(4):226-9	Analysis of estrogen receptor polymorphism in codon 325 by PCR-SSCP in breast cancer: association withlymph node metastasis.		133430	10399	2	2002	Our data suggest that there is a relationship between the ER325 polymorphism and susceptibility to breast cancer (OR = 2.3; 1.10 < OR < 5.1) and that it can also be related with the metastasization process.	Control:69 individuals without any known pathology;Case:70 breast cancer patients										
122460	Y	psychoses; neuroticism	PSYCH	PSY	Neurotic Disorders	6	6q25.1	ESR1	152053407	152466099		Westberg, L.  et al. 2003	12556917				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Molecular psychiatry. 2003 Jan;8(1):118-22	Association between a dinucleotide repeat polymorphism of the estrogen receptor alpha gene and personality traits in women		133430	10401	2	2003	The results suggest that the studied dinucleotide repeat polymorphism of the ER alpha gene may contribute to specific components of personality.	Cohort 172 42-year-old women who had been assessed using the Karolinska Scales of Personality 										
122461		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Grundberg, E.  et al. 2004	15579774				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Swedish		CDC GDPinfo	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2004 Dec;89(12):6173-8	A deletion polymorphism in the RIZ gene, a female sex steroid hormone receptor coactivator, exhibits decreased response to estrogen in vitro and associates with low bone mineral density in young Swedish women.		133430	10405	2	2004	We conclude that  RIZ1 may be a new candidate gene for involvement in the variation seen in BMD.	Cohort 343 Swedish women aged 20-39 										
122456	Y	quantitative calcaneal ultrasounds	OTHER	OTH	Body Weight	6	6q25.1	ESR1	152053407	152466099		Patel, M. S.  et al. 2000	11092404				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of bone and mineral research. 2000 Nov;15(11):2231-9	Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound.		133430	10396	2	2000	This is the first demonstration of specific genetic effects on calcaneal QUS encoded by alleles of genes directly involved in mediating estrogen effects on bone.	Cohort 663 white women aged 18-35 years 										
122457	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q25.1	ESR1	152053407	152466099		Li, Y.  et al. 2001	11798902				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Zhonghua yi xue za zhi. 2001 Apr;81(7):389-92	[Association between estrogen receptor gene polymorphisms and acute myocardial infraction]		133430	10397	2	2001	 XbaI polymorphisms are not related to AMI. But PvuII polymorphisms are associated with AMI, they might be a risk factor for AMI.	Control:118 controls not otherwise specified in abstract;Case:75 acute myocardial infarction patients										
122458	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Yang Deficiency|Yin Deficiency	6	6q25.1	ESR1	152053407	152466099		An, S.  et al. 2000	11938861				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		CDC GDPinfo	2099	Hs.208124			Zhongguo Zhong xi yi jie he za zhi Zhongguo Zhongxiyi jiehe zazhi. 2000 Dec;20(12):907-10	[Study on relationship between estrogen receptor gene polymorphism and syndrome differentiation typing of female postmenopausal osteoporosis in Traditional Chinese medicine]		133430	10398	2	2000	 Estrogen receptor gene RFLPs is related to TCM Syndrome Differentiation typing.	Cohort 246 Chinese postmenopausal women, age 44-80 years, mean 65.8 years 										
122453		lymph node metastasis	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis	6	6q25.1	ESR1	152053407	152466099		Vasconcelos A et al. 2002	12100115	codon 325			Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Portugal	KGB	2099	Hs.208124			The breast journal. 2002 Jul-Aug;8(4):226-9	Analysis of estrogen receptor polymorphism in codon 325 by PCR-SSCP in breast cancer: association with lymph node metastasis.		133430	7699	1	2002	Our data suggest that there is a relationship between the ER325 polymorphism and susceptibility to breast cancer (OR = 2.3; 1.10 < OR < 5.1) and that it can also be related with the metastasization process.	Control:69 individuals without any known pathology;Case:70 breast cancer patients										
122454	Y	osteoporotic fractures but polymorphisms	OTHER	OTH	Osteoporosis|Fractures, Bone	6	6q25.1	ESR1	152053407	152466099		Langdahl BL et al. 2000	11092403			intron	Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Journal of bone and mineral research. 2000 Nov;15(11):2222-30	A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not.		133430	7707	1	2000	A TA repeat polymorphism in the ER gene is associated with increased risk of osteoporotic fractures and a modest reduction in bone mass. Polymorphisms in the first exon and first intron of the ER gene are not associated with osteoporotic fractures, bone mass, or bone turnover.	Control:188 women and 64 men who are normal;Case:190 women and 30 men with vertebral fractures										
122455	N	osteoporosis	OTHER	OTH	Osteoporosis|Fractures, Bone	6	6q25.1	ESR1	152053407	152466099		Langdahl, B. L.  et al. 2000	11092403			intron	Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Journal of bone and mineral research. 2000 Nov;15(11):2222-30	A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not		133430	10395	2	2000	A TA repeat polymorphism in the ER gene is associated with increased risk of osteoporotic fractures and a modest reduction in bone mass. Polymorphisms in the first exon and first intron of the ER gene are not associated with osteoporotic fractures, bone mass, or bone turnover.	Control:188 women and 64 men who are normal;Case:190 women and 30 men with vertebral fractures										
122450	Y	endometriosis adenomyosis and leiomyomata.	REPRODUCTION	REP	Leiomyomatosis|Uterine Neoplasms|Endometriosis	6	6q25.1	ESR1	152053407	152466099		Kitawaki J et al. 2001	11139535				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			Hum Reprod	Oestrogen receptor-alpha gene polymorphism is associated with endometriosis adenomyosis and leiomyomata.		133430	2441	1	2001												
122451	Y	skeletal responsiveness to estrogen	METABOLIC	MET		6	6q25.1	ERA	152170378	152466099		Ongphiphadhanakul B et al. 2001	11765043				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			Journal of endocrinological investigation. 2001 Nov;24(10):749-55	Association of a T262C transition in exon 1 of estrogen-receptor-alpha gene with skeletal responsiveness to estrogen in post-menopausal women.			2442	1	2001												
122452	Y	acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q25.1	ESR1	152053407	152466099		Li Y et al. 2001	11798902				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Zhonghua yi xue za zhi. 2001 Apr;81(7):389-92	Association between estrogen receptor gene polymorphisms and acute myocardial infraction		133430	7697	1	2001	 XbaI polymorphisms are not related to AMI. But PvuII polymorphisms are associated with AMI, they might be a risk factor for AMI.	Control:118 controls not otherwise specified in abstract;Case:75 acute myocardial infarction patients										
122446	Y	urolithiasis	METABOLIC	MET	Urinary Calculi	6	6q25.1	ER	152170378	152466099		Chen WC et al. 2001	11564035				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			BJU international. 2001 Sep;88(4):432-6	The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men.			2437	1	2001	 Urolithiasis among men appears to be associated with AR gene CAG repeat and ER gene TA repeat polymorphisms, whereas there was no significant association among female stone patients. These sex hormone receptors seem to be related to the higher incidence of stone formation among men.											
122448	Y	bone mineral density	METABOLIC	MET		6	6q25.1	ER	152170378	152466099		Ongphiphadhanakul B et al. 1998	10209569				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			Clinical endocrinology. 1998 Dec;49(6):803-9	Serum oestradiol and oestrogen-receptor gene polymorphism are associated with bone mineral density independently of serum testosterone in normal males.			2439	1	1998	 Serum oestradiol is more related to bone mass than free testosterone in normal men. Oestrogen-receptor gene polymorphism is also associated with bone mass in men independently of oestradiol levels. Serum oestradiol together with oestrogen-receptor genotype may partly determine bone mass in males.											
122449	Y	age of menarche	DEVELOPMENTAL	DEV		6	6q25.1	ESR1	152053407	152466099		Stavrou I et al. 2002	11925413				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			Hum Reprod	Association of polymorphisms of the oestrogen receptor alpha gene with the age of menarche.		133430	2440	1	2002												
122442	Y	bone mineral density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Sowers M 2004	14764789	PvuII and XbaI polymorphisms			Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):733-9	Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations.		133430	2433	1	2004		Case:604										
122444	Y	bone mineral density	METABOLIC	MET	Osteoporosis	6	6q25.1	ESR1	152053407	152466099		Khosla S 2004	15070949			5'promoter	Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			The Journal of clinical endocrinology and metabolism. 2004 Apr;89(4):1808-16	Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men.		133430	2435	1	2004	These data thus indicate that the ER-alpha genotype may modulate the relationship between BMD or rates of bone loss and estrogen levels in men and that bone mass in men with the X or P alleles may be more susceptible to the consequences of estrogen deficiency (and conversely, benefit most from estrogen sufficiency) than in men with the xx or pp genotypes.	Cohort 283 randomly sampled men stratified by age Rochester, Minnesota										
122445	Y	calcium excretion	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		Hoshino S et al. 2000	10783849				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Journal of bone and mineral metabolism. 2000 ;18(3):153-7	Identification of a novel polymorphism of estrogen receptor-alpha gene that is associated with calcium excretion in urine.		133430	2436	1	2000												
122438	Y	radiographic osteoarthritis of the knee	OTHER	OTH	Osteoarthritis, Knee	6	6q25.1	ESR1	152053407	152466099		Bergink AP 2003	12847685				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	elderly		KGB	2099	Hs.208124			Arthritis and rheumatism. 2003 Jul;48(7):1913-22	Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women.		133430	2429	1	2003	 This study shows that polymorphisms in the ERalpha gene are associated with radiographic OA of the knee, and in particular with osteophytosis, in both elderly men and elderly women.											
122440		normal variation	NORMALVARIATION	NV		6	6q25.1	ESR1	152053407	152466099		Willing MC 2003	12879219				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		133430	2431	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
122441		Height	NORMALVARIATION	NV	Osteoporosis, Postmenopausal	6	6q25.1	ESR1	152053407	152466099		Schuit SC 2004	14715865				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124	pre- and postmenopausal women		The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):303-9	Height in pre- and postmenopausal women is influenced by estrogen receptor alpha gene polymorphisms.		133430	2432	1	2004												
122435		prostate cancer.	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Tanaka Y 2003	12891629				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Molecular carcinogenesis. 2003 Aug;37(4):202-8	Polymorphisms of estrogen receptor alpha in prostate cancer.		133430	2426	1	2003												
122436		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Shin A 2003	12889606				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Breast cancer research and treatment. 2003 Jul;80(1):127-31	Estrogen receptor alpha gene polymorphisms and breast cancer risk.		133430	2427	1	2003												
122437		aortic valve sclerosis	CARDIOVASCULAR	CARD	Aortic Valve Stenosis	6	6q25.1	ESR1	152053407	152466099		Nordstrom P 2003	12859695				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Journal of internal medicine. 2003 Aug;254(2):140-6	Oestrogen receptor alpha gene polymorphism is related to aortic valve sclerosis in postmenopausal women.		133430	2428	1	2003	 We have demonstrated that the PvuII polymorphism in the ORalpha gene is related to both the presence of AS in postmenopausal women and to lipid levels in adolescent females, suggesting that this polymorphism may influence the risk of AS partly by affecting lipid levels.											
122431		bone mineral density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Sapir-Koren R 2003	14506618				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Metabolism:  clinical and experimental. 2003 Sep;52(9):1129-35	Genetic effects of estrogen receptor alpha and collagen IA1 genes on the relationships of parathyroid hormone and 25 hydroxyvitamin D with bone mineral density in Caucasian women.		133430	2422	1	2003	We conclude that  in the studied elderly women, the Px haplotype may be involved in causing the phenotypic expression of higher circulating levels of PTH and higher bone turnover, which, in turn, may lead to bone loss.											
122432		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.1	ESR1	152053407	152466099		Cai Q 2003	14504194				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		China	KGB	2099	Hs.208124			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):853-9	Genetic polymorphisms in the estrogen receptor alpha gene and risk of breast cancer: results from the Shanghai Breast Cancer Study.		133430	2423	1	2003												
122433	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Iwamoto I 2003	12962933				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Japan	KGB	2099	Hs.208124			Obstetrics and gynecology. 2003 Sep;102(3):506-11	Association of estrogen receptor alpha and beta3-adrenergic receptor polymorphisms with endometrial cancer.		133430	2424	1	2003	 Estrogen receptor alpha polymorphisms, but not beta3-adrenergic receptor gene, may be associated with a risk of endometrial cancer.											
122426	N	bone mineral density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099	n	Zhang et al,2003	12927786			other	Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		HW	2099	Hs.208124	bone mineral density		Biochemical and biophysical research communications. 2003 Sep;308(4):777-83	Estrogen receptor alpha and vitamin D receptor gene polymorphisms and bone mineral density: association study of healthy pre- and postmenopausal Chinese women		133430	2417	1	2003												
122428		height in children	CANCER	CAN	Bone Neoplasms|Body Weight	6	6q25.1	ESR1	152053407	152466099		Ruza E 2003	14528100				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Journal of pediatric hematology/oncology. 2003 Oct;25(10):780-6	Analysis of polymorphisms of the vitamin D receptor, estrogen receptor~~~ and collagen Ialpha1 genes and their relationship with height in children with bone cancer.		133430	2419	1	2003	 Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene.	Control standards published for Spanish reference children according to sex and age;Case:58/36 osteosarcoma (n=58) and Ewing sarcoma (n=36):patients										
122429	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Cai Q 2003	14522892				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Cancer research. 2003 Sep;63(18):5727-30	Association of breast cancer risk with a GT dinucleotide repeat polymorphism upstream of the estrogen receptor-alpha gene.		133430	2420	1	2003												
122422	Y	male infertility	REPRODUCTION	REP	Infertility, Male	6	6q25.1	ESR1	152053407	152466099		Kukuvitis A et al. 2002	12031042				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			International journal of andrology. 2002 Jun;25(3):149-52	Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men.		133430	2413	1	2002												
122424	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Alzheimer Disease	6	6q25.1	ESR1	152053407	152466099	n	Mattila KM et al. 2002	12174171				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Finland	KGB	2099	Hs.208124			Acta neurologica Scandinavica. 2002 Sep;106(3):128-30	Lack of association between an estrogen receptor 1 gene polymorphism and Parkinson's disease with dementia.		133430	2415	1	2002	 We failed to demonstrate an association between dementia-associated PD and the ESR1 PvuII polymorphism in Finnish subjects.											
122425	Y	serum low-density lipoprotein metabolism	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		Kikuchi T et al. 2000	10677056				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Acta Paediatr. 2000 Jan;89(1):42-5	Association of serum low-density lipoprotein metabolism with oestrogen receptor gene polymorphisms in healthy children.		133430	2416	1	2000												
122418	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q25.1	ESR1	152053407	152466099		Brandi ML et al. 1999	10558867				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Italy	KGB	2099	Hs.208124			Biochemical and biophysical research communications. 1999 Nov;265(2):335-8	Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease.		133430	2409	1	1999												
122419	Y	bone mineral density	METABOLIC	MET	Fractures, Bone|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Ioannidis JP et al. 2002	12412813				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Journal of bone and mineral research. 2002 Nov;17(11):2048-60	Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis.		133430	2410	1	2002												
122421	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Rheumatoid Nodule	6	6q25.1	ESR1	152053407	152466099		Ushiyama T et al. 1999	10343533				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Annals of the rheumatic diseases. 1999 Jan;58(1):10-Jul	Association of oestrogen receptor gene polymorphisms with age at onset of rheumatoid arthritis.		133430	2412	1	1999	 Some variants of the OR gene are related to the onset of RA in women in certain age periods, suggesting the role of the interaction between the OR gene and serum concentrations of oestrogen at the onset of the disease.											
122414	Y	idiopathic azoospermia	OTHER	OTH	Oligospermia	6	6q25.1	ESR1	152053407	152466099		Suzuki Y et al. 2002	12477541				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Fertility and sterility. 2002 Dec;78(6):1341-3	Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia.		133430	2405	1	2002												
122415	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Kunnas TA et al. 2000	10915129			5'promoter	Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Finnish		KGB	2099	Hs.208124			BMJ (Clinical research ed). 2000 Jul;321(7256):273-4	Association of polymorphism of human alpha oestrogen receptor gene with coronary artery disease in men: a necropsy study.		133430	2406	1	2000		Case:52; Control:67										
122416	Y	In Vitro Fertilization	REPRODUCTION	REP	Infertility, Female	6	6q25.1	ESR1	152053407	152466099		Sundarrajan C et al. 1999	10460216				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Singapore	KGB	2099	Hs.208124	outome of ovarian stimulation		Molecular human reproduction. 1999 Sep;5(9):797-802	Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF.		133430	2407	1	1999												
122411	N	major depressive disorder	PSYCH	PSY	Disease Susceptibility|Depressive Disorder	6	6q25.1	ESR1	152053407	152466099	n	Tsai SJ 2003	12605096				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Chinese		KEW	2099	Hs.208124	suicidal behaviors		Psychiatric genetics. 2003 Mar;13(1):19-22			133430	2402	1	2003	 Our results suggest that the ER-alpha may play a role in the susceptibility of MDD in females.	Case:154; Control:226										
122412	Y	bone mineral density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Koh JM et al. 2002	12457453				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			European journal of endocrinology. 2002 Dec;147(6):777-83	Estrogen receptor alpha gene polymorphisms Pvu II and Xba I influence association between leptin receptor gene polymorphism (Gln223Arg) and bone mineral density in young men.		133430	2403	1	2002	 This study indicates that the Gln223Arg polymorphism of LEPR is important for determination of the peak bone mass in men and that it is influenced by ERalpha gene polymorphisms.	Cohort 219 healthy volunteers aged 10-34 years										
122413	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099	n	Savettieri G et al. 2002	12098649				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Italy	KGB	2099	Hs.208124			Neuroscience letters. 2002 Jul;327(2):115-8	Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans.		133430	2404	1	2002												
122407		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	13	13q14.1-q14.2	ESD	46243391	46269368			11785295				Esterase D/formylglutathione hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001984.1			CDC GDPinfo	2098	Hs.432491			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		133280	24363	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
122408		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	13	13q14.1-q14.2	ESD	46243391	46269368			11436564				Esterase D/formylglutathione hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001984.1			CDC GDPinfo	2098	Hs.432491			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		133280	25978	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
122409	Y	bone mineral density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099	P=0.036	Yamada Y 2002	12110951	adjusted BMD for the femoral neck was significantly lower in women aged 60 years or over with the GG genotype than in those with the AA or AG genotypes			Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	participants in the National Institure For Longevity Sciences Longitudinal Study of Aging	Japan	KEW	2099	Hs.208124			Journal of molecular medicine (Berlin, Germany). 2002 Jul;80(7):452-60			133430	2400	1	2002		Case:4468										
122404	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	21	21q22.3	ERG	38661052	38955488		Lau, E. M.  et al. 2001	11472898				V-ets erythroblastosis virus E26 oncogene like (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182918.2	Chinese	China	CDC GDPinfo	2078	Hs.473819			Bone. 2001 Jul;29(1):96-8	Estrogen receptor gene polymorphism and bone mineral density in postmenopausal Chinese women.		165080	10392	2	2001	We conclude that  postmenopausal Chinese women who were homozygous for the XX genotype had slightly higher BMD than the others. However, the difference in BMD was small and was unlikely to have any clinical significance. The ERG is not a major determinant of BMD in Chinese women in Hong Kong.	Cohort 454 postmenopausal Chinese women, aged 55-79 years 										
122405		tuberculosis	INFECTION	INF		13	13q14.1-q14.2	ESD	46243391	46269368		Tarskaia, L. A.  et al. 2002	11963573				Esterase D/formylglutathione hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001984.1			CDC GDPinfo	2098	Hs.432491			Genetika. 2002 Mar;38(3):426-9	[Genetic polymorphism of erythrocytic enzymes in Yakut populations]		133280	21272	2	2002	The allelic frequencies of the polymorphic systems	Cohort Yakut populations 										
122406		atherosclerosis, coronary; tuberculosis	CARDIOVASCULAR	CARD		13	13q14.1-q14.2	ESD	46243391	46269368		Evseeva IV  et al. 2001	11771313				Esterase D/formylglutathione hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001984.1	Russian		CDC GDPinfo	2098	Hs.432491			Genetika. 2001 Nov;37(11):1571-7	[Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of Russia]		133280	24362	2	2001	Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean FST = 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1 locus (FST = 0.056).											
122401		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Weiss, J. M.  et al. 2005	16284373				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		133530	25975	2	2005												
122402		cytogenetic studies	OTHER	OTH	DNA Damage	13	13q22	ERCC5	102249399	102326346		Naccarati, A.  et al. 2005	16043197				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		133530	26856	2	2005												
122403		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	13	13q22	ERCC5	102249399	102326346		Zienolddiny, S.  et al. 2005	16195237				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		133530	27416	2	2005												
122399		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Cell Transformation, Neoplastic	13	13q22	ERCC5	102249399	102326346		Mort, R.  et al. 2003	12865926				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			British journal of cancer. 2003 Jul;89(2):333-7	Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.		133530	25973	2	2003	We conclude that  these genes do not have an important role in protection against colorectal carcinogenesis.	Case colorectal cancer patients;Control:controls										
122400		lung cancer	CANCER	CAN	Lung Neoplasms	13	13q22	ERCC5	102249399	102326346		Shen, M.  et al. 2005	15849729				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2	Chinese		CDC GDPinfo	2073	Hs.258429			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		133530	25974	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
122396		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	13	13q22	ERCC5	102249399	102326346			16343742				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		133530	24359	2	2005			smoking (tobacco)									
122397		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	13	13q22	ERCC5	102249399	102326346		Gu, J.  et al. 2005	15746040				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Clinical cancer research. 2005 Feb;11(4):1408-15	Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.		133530	24360	2	2005	 These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.	Cohort 288 paitnets with superficial bladder cancer 	Bacillus Calmette-Guerin treatment									
122398	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	13	13q22	ERCC5	102249399	102326346		Millikan, R. C.  et al. 2005	16258177				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Carcinogenesis. 2005	Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the GenesEnvironment and Melanoma study.		133530	24361	2	2005												
122394		cytogenetic studies	OTHER	OTH		13	13q22	ERCC5	102249399	102326346		Kuricova, M.  et al. 2005	15992842				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Toxicology and applied pharmacology. 2005 Sep;207(2 Suppl):302-9	DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity.		133530	21271	2	2005	Adhesion molecules sL-selectin and sICAM-1 were associated with XPC genotype (P < 0.05). Individual susceptibility may be reflected in genotoxic and immunotoxic responses to environmental and occupational exposures to xenobiotics.		styrene									
122395		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	13	13q22	ERCC5	102249399	102326346		Sanyal, S.  et al. 2003	14688016				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		133530	24358	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
122391		esophageal cancer; laryngeal cancer; oropharynx cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Esophageal Neoplasms|Laryngeal Neoplasms|Oropharyngeal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Cui, Y.  et al. 2005	16094634				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			International journal of cancer. Journal international du cancer. 2006 Mar;118(3):714-20	Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.		133530	10389	2	2005			alcohol smoking (tobacco)									
122393		cytogenetic studies	OTHER	OTH	DNA Damage|Chromosome Aberrations	13	13q22	ERCC5	102249399	102326346		Vodicka, P.  et al. 2004	14729591				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Carcinogenesis. 2004 May;25(5):757-63	Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and singlestrand breaks in DNA		133530	21270	2	2004	Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes coding DNA repair enzymes.	Cohort a central European population 										
122389		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Jeon, H. S.  et al. 2003	12869423				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Carcinogenesis. 2003 Oct;24(10):1677-81	Relationship between XPG codon 1104 polymorphism and risk of primary lung cancer.		133530	10385	2	2003	These results suggest that the XPG codon 1104 polymorphism contributes to genetic susceptibility to lung cancer.	Case:310 lung cancer patients;Control:311 healthy controls										
122390	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Xeroderma Pigmentosum	13	13q22	ERCC5	102249399	102326346		Blankenburg, S.  et al. 2004	15494739				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			European journal of human genetics. 2005 Feb;13(2):253-5	No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.		133530	10387	2	2004	We found no association of the homozygous 1580A, 1601C, 2166A, and 3507G genotypes with increased risks of melanoma. Exploratory analyses of subgroups of melanoma patients compared to all controls indicated no association of these genotypes with increased risks for development of multiple primary melanomas (n=28), a negative family history for melanoma (n=277), melanomas in individuals with a low number of nevi (n=273), melanomas in individuals older than 55 years (n=142), and melanomas thicker than 1 mm (n=126).	Case:294 hospital-based Caucasian patients with malignant:melanoma;Control:375 healthy control individuals from the same area matched by sex										
122386		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	16	16p13.3-p13.11	ERCC4	13921523	13949705		Zienolddiny, S.  et al. 2005	16195237				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		133520	26855	2	2005												
122387		primary lung cancer.	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Jeon HS 2003	12869423				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			KGB	2073	Hs.258429			Carcinogenesis. 2003 Oct;24(10):1677-81	Relationship between XPG codon 1104 polymorphism and risk of primary lung cancer.		133530	2397	1	2003	These results suggest that the XPG codon 1104 polymorphism contributes to genetic susceptibility to lung cancer.	Case:310 lung cancer patients;Control:311 healthy controls										
122388		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Kumar, R.  et al. 2003	12494477				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			International journal of cancer. Journal international du cancer. 2003 Feb;103(5):671-5	Single nucleotide polymorphisms in the XPG gene:determination of role in DNA repair and breast cancer risk.		133530	10384	2	2003	The XPG gene exhibited marginally significant increased frequency of the variant allele in cases compared to controlsCombined heterozygote and variant homozygote genotype frequency was also higher in cases than controls	Case:220 breast cancer cases;Control:308:controls										
122383		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	16	16p13.3-p13.11	ERCC4	13921523	13949705		Matullo, G.  et al. 2005	16284380				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		133520	24357	2	2005			smoking (tobacco)									
122384		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705			16393248				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		133520	25972	2	2006			alcohol smoking (tobacco)									
122385		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	16	16p13.3-p13.11	ERCC4	13921523	13949705		Krajinovic, M.  et al. 2002	11895912				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		133520	26854	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
122380		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Mathonnet, G.  et al. 2003	14625810				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		133520	24354	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
122381		lung cancer	CANCER	CAN	Lung Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Shen, M.  et al. 2005	15849729				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1	Chinese		CDC GDPinfo	2072	Hs.567265			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		133520	24355	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
122382		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Weiss, J. M.  et al. 2005	16284373				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		133520	24356	2	2005												
122378		breast cancer	CANCER	CAN	Breast Neoplasms|Obesity|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Lee, S. A.  et al. 2005	15886521				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1	Korean	Korea	CDC GDPinfo	2072	Hs.567265			Experimental & molecular medicine. 2005 Apr;37(2):86-90	Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer.		133520	21267	2	2005	Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women.	Control:502:controls;Case:574 breast cancer cases:Korea										
122379	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Millikan, R. C.  et al. 2005	16258177				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Carcinogenesis. 2005	Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the GenesEnvironment and Melanoma study.		133520	21268	2	2005												
122374	Y	xeroderma pigmentosum	OTHER	OTH	Xeroderma Pigmentosum	2	2q21	ERCC3	127731335	127768222		Vermeulen W et al. 1994	8304337				Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000122.1			KGB	2071	Hs.469872			American journal of human genetics. 1994 Feb;54(2):191-200	Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.		133510	2396	1	1994												
122375		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Cell Transformation, Neoplastic	2	2q21	ERCC3	127731335	127768222		Mort, R.  et al. 2003	12865926				Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000122.1			CDC GDPinfo	2071	Hs.469872			British journal of cancer. 2003 Jul;89(2):333-7	Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.		133510	24353	2	2003	We conclude that  these genes do not have an important role in protection against colorectal carcinogenesis.	Case colorectal cancer patients;Control:controls										
122376	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Smith, T. R.  et al. 2003	14652281				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			Cancer epidemiology, biomarkers & prevention. 2003	DNA-repair genetic polymorphisms and breast cancer risk.		133520	10382	2	2003	We provide evidence that variants of XRCC1, XRCC3, and ERCC4/XPF genes, particularly in combination, contribute to breast cancer susceptibility.	Case:253 breast cancer cases;Control:268:controls		XRCC1	Arg194Trp	XRCC3	Thr241Met	ERCC4/XPF	Arg415Gln	Y		breast cancer
122371		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Xing, D.  et al. 2003	12883749				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Chinese	China	CDC GDPinfo	2068	Hs.487294			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		126340	26853	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
122372		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Sturgis, E. M.  et al. 2002	11981277				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		126340	27415	2	2002	Review article											
122373		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Starinsky, S.  et al. 2004	15523694				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Israel	CDC GDPinfo	2068	Hs.487294			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		126340	27707	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
122368	Y	meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Sadetzki, S.  et al. 2005	15824172				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Israel	CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		126340	25969	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
122369		cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Naccarati, A.  et al. 2005	16043197				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		126340	25970	2	2005												
122370		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Zienolddiny, S.  et al. 2005	16195237				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		126340	25971	2	2005												
122365		leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms	19	19q13.3	ERCC2	50546685	50566016			16308313				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study.		126340	21266	2	2005												
122366		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Isla, D.  et al. 2004	15277258				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Annals of oncology. 2004 Aug;15(8):1194-203	Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer		126340	24351	2	2004	 Patients homozygous for the ERCC1 118 C allele demonstrated a significantly better survival. ERCC1 SNP assessment could be an important component of tailored chemotherapy trials.	Cohort 62 docetaxel-cisplatin-treated advanced non-small-cell lung cancer patients 	cisplatin docetaxel									
122367		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Vogel, U.  et al. 2005	15936590				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Caucasian	Denmark	CDC GDPinfo	2068	Hs.487294			Cancer detection and prevention. 2005 ;29(3):209-14	Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50.		126340	24352	2	2005	While it cannot be ruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma.	Case:322 basal cell carcinoma cases nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion) Copenhagen and Aarhus, Denmark;Control:322 controls nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion)										
122362		melanoma	CANCER	CAN	Melanoma	19	19q13.3	ERCC2	50546685	50566016		Liu, D.  et al. 2005	15709194				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Clinical cancer research. 2005 Feb;11(3):1237-46	Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study.		126340	21263	2	2005	 Cytokine gene polymorphisms predicted clinical outcome for advanced melanoma patients who received biochemotherapy. The combined effects of multiple genetic polymorphisms may provide more accurate prognostic information. Additional independent studies are needed to confirm these pilot findings.	Cohort 90 patients with stage IV melanoma treated with biochemotherapy, including cisplatin, vinblastine, and dacarbazine combined with interleukin (IL)-2 and IFN-alpha either with or without tamoxifen 	cisplatin dacarbazine IFN-alpha interleukin (IL)-2 tamoxifen vinblastine									
122363		testicular cancer	CANCER	CAN	Testicular Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Laska, M. J.  et al. 2005	15885892				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Denmark	CDC GDPinfo	2068	Hs.487294			Cancer letters. 2005 Jul;225(2):245-51	Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.		126340	21264	2	2005	To our knowledge this is the first study of DNA repair gene polymorphisms and risk of testicular cancer.	Case:184 testicular cancer cases Copenhagen Greater Area in Denmark;Control:194 population-based controls										
122364		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016			16351803				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Ai zheng. 2005 Dec;24(12):1510-3	[Correlation of Genetic Polymorphisms in Nucleotide Excision Repair System to Sensitivity of Advanced Non-Small Cell Lung Cancer Patients to Platinum-based Chemotherapy.]		126340	21265	2	2005	 The genetic polymorphisms of XPC-PAT, XPD Lys751Gln, and ERCC1 C8092A in nucleotide excision repair system may be associated with sensitivity of NSCLC patients to platinum-based chemotherapy.		chemotherapy									
122359		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Matullo, G.  et al. 2005	16284380				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		126340	21260	2	2005			smoking (tobacco)									
122360		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	19	19q13.3	ERCC2	50546685	50566016		Gu, J.  et al. 2005	15746040				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Clinical cancer research. 2005 Feb;11(4):1408-15	Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.		126340	21261	2	2005	 These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.	Cohort 288 paitnets with superficial bladder cancer 	Bacillus Calmette-Guerin treatment									
122361		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	19	19q13.3	ERCC2	50546685	50566016		Stoehlmacher, J.  et al. 2004	15213713				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		126340	21262	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
122356		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Cell Transformation, Neoplastic	19	19q13.3	ERCC2	50546685	50566016		Mort, R.  et al. 2003	12865926				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			British journal of cancer. 2003 Jul;89(2):333-7	Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.		126340	21257	2	2003	We conclude that  these genes do not have an important role in protection against colorectal carcinogenesis.	Case colorectal cancer patients;Control:controls										
122357		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Shen, M.  et al. 2005	15849729				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Chinese		CDC GDPinfo	2068	Hs.487294			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		126340	21258	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
122358		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Weiss, J. M.  et al. 2005	16284373				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		126340	21259	2	2005												
122353		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Sturgis, E. M.  et al. 2002	12220217				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Archives of otolaryngology--head & neck surgery. 2002 Sep;128(9):1084-8	DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck.		126340	21254	2	2002	 These 2 polymorphisms may contribute to the risk of SCCHN, but larger studies are needed to confirm their role in SCCHN. Combining common DNA repair gene polymorphisms into models of genetic risk of SCCHN may improve risk estimates.	Case:330 newly diagnosed case subjects with SCCHN;Control:330 cancer-free control subjects matched on age (+/- 5 years), sex, smoking status, and alcohol use										
122354		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Ryu, J. S.  et al. 2004	15140544				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Lung cancer (Amsterdam, Netherlands). 2004 Jun;44(3):311-6	Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy.		126340	21255	2	2004	Therefore, we suggest that the C/C genotype in codon 118 of ERCC1 is a surrogate marker for predicting better survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy.	Cohort 109 patients with non-small-cell lung cancer treated with cisplatin combination chemotherapy 	cisplatin									
122355		glioma	CANCER	CAN	Glioma|Brain Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Wrensch, M.  et al. 2005	16212814				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Neuro-oncology. 2005 Oct;7(4):495-507	ERCC1 and ERCC2 polymorphisms and adult glioma.		126340	21256	2	2005												
122350		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Festa, F.  et al. 2005	15914210				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		126340	21251	2	2005												
122351		smoking genotoxic effects	UNKNOWN	UNK		19	19q13.3	ERCC2	50546685	50566016		Hoffmann, H.  et al. 2005	16037119				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Mutagenesis. 2005 Sep;20(5):359-64	Genetic polymorphisms and the effect of cigarette smoking in the comet assay.		126340	21252	2	2005												
122352		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	19	19q13.3	ERCC2	50546685	50566016		Harms, C.  et al. 2004	15199549				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		126340	21253	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
122347		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Buch, S.  et al. 2005	15754315				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Molecular carcinogenesis. 2005 Apr;42(4):222-8	Association of polymorphisms in the cyclin D1 and XPD genes and susceptibility to cancers of the upper aero-digestive tract.		126340	21248	2	2005	This is the first study to suggest an associative interaction between XPD and CCND1 genetic polymorphisms, tobacco exposure, and cancer risk.	Control:269:controls;Case:273 upper aero-digestive tract cancer cases	smoking (tobacco)									
122348		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Sanyal, S.  et al. 2003	14688016				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		126340	21249	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
122349		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.3	ERCC2	50546685	50566016			16343742				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		126340	21250	2	2005			smoking (tobacco)									
122344		neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	19	19q13.3	ERCC2	50546685	50566016		Olshan, A. F.  et al. 2005	15887293				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			American journal of medical genetics Part A. 2005 Jun;135(3):268-73	Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.		126340	21245	2	2005	This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.	Case:250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program;Control:350 non-malformation controls										
122346		radiotherapy sensitivity	UNKNOWN	UNK	Breast Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Chang-Claude, J.  et al. 2005	16000577				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Clinical cancer research. 2005 Jul;11(13):4802-9	Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients.		126340	21247	2	2005	 The XRCC1 399Gln or APE1 148Glu alleles may be protective against the development of acute side effects after radiotherapy in patients with normal weight.		body mass									
122341		DNA repair capacity	UNKNOWN	UNK	Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Qiao, Y.  et al. 2002	11872635				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2002 Feb;23(2):295-9	Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes.		126340	20198	2	2002	We concluded that these NER polymorphisms may modulate DRC and may be useful biomarkers for identifying individuals at risk of developing cancer.	Cohort 102 healthy non-Hispanic white subjects 										
122342		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016			16311243				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005	Concordance of multiple analytical approaches demonstrates a complex relationship between DNA repair gene SNPs, smoking, and bladder cancer susceptibility		126340	20204	2	2005	These results support the hypothesis that common polymorphisms in DNA repair genes modify bladder cancer risk and emphasize the need for a multifaceted statistical approach to identify gene-gene and gene-environment interactions.		smoking (tobacco)									
122343		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Mathonnet, G.  et al. 2003	14625810				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		126340	21244	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
122338		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016			16373199				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Thai		CDC GDPinfo	2068	Hs.487294			International journal of hygiene and environmental health. 2006 ;209(1):21-9	Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand		126340	14845	2	2006			alcohol betel quid smoking (tobacco)									
122339		hyperkeratosis	OTHER	OTH	Arsenic Poisoning|Keratosis|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Ahsan, H.  et al. 2003	12749816				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Bangladesh	CDC GDPinfo	2068	Hs.487294			Toxicology letters. 2003 Jul;143(2):123-31	DNA repair gene XPD and susceptibility to arsenic-induced hyperkeratosis.		126340	16533	2	2003	In conclusion, our findings suggest that the DNA repair gene XPD may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions. Future larger studies are needed to confirm this novel finding and investigate how combinations of different candidate genes and/or other host and environmental factors may influence the risk of arsenic induced skin and other cancers.	Control:105 healthy control from the same community;Case:29 hyperkeratosis cases:Bangladesh										
122340		cytogenetic studies	OTHER	OTH	Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Pavanello, S.  et al. 2004	15471894				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005 Jan;26(1):169-75	Reduced nucleotide excision repair and GSTM1-null genotypes influence anti-B[a]PDE-DNA adduct levels in mononuclear white blood cells of highly PAH-exposed coke oven workers.		126340	20195	2	2004	The modulation of anti-B[a]PDE-DNA adducts in the LMF by GSTM1-null and some low-activity NER genotypes may be considered as a potential genetic susceptibility factor capable of modulating individual responses to PAH (B[a]P) genotoxic exposure and the consequent risk of cancer in coke oven workers.	Cohort 67 Polish coke overn workers 	polycyclic aromatic hydrocarbons smoking (tobacco)	GSTM1	null	XPC-PAT	+/+			Y	coke oven workers	cancer
122335		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Zhang, L.  et al. 2005	16002061				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Clinica chimica acta; international journal of clinical chemistry. 2005 Sep;359(2-Jan):150-5	Single nucleotide polymorphisms for DNA repair genes in breast cancer patients.		126340	14839	2	2005	 The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.											
122336		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Huang, W. Y.  et al. 2005	16030112				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1747-53	Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer: apooled analysis.		126340	14840	2	2005			alcohol smoking (tobacco)									
122337		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasms, Second Primary	19	19q13.3	ERCC2	50546685	50566016			16369171				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			The Laryngoscope. 2005 Dec;115(12):2221-31	DNA Repair Gene Polymorphisms and Risk of Second Primary Neoplasms and Mortality in Oral Cancer Patients		126340	14844	2	2005	 Polymorphisms in the DNA repair enzyme gene XRCC3 241Met was associated with an increased risk of second neoplasms, and polymorphisms of the XRCC1 399Gln gene were associated with a decreased risk of all-cause mortality in patients with primary OSCC. These findings require confirmation in other populations before the clinical implications can be considered.											
122332		stomach cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Huang, W. Y.  et al. 2005	15802298				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Polish	Poland	CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005 Aug;26(8):1354-9	Selected DNA repair polymorphisms and gastric cancer in Poland.		126340	14820	2	2005	Selected DNA repair polymorphisms did not have independent effects on gastric cancer risk, however, they may modify smoking- and possible diet-related risks for this disease. There results need replication in larger epidemiological studies of gastric cancer.	Case:281 incident gastric cancer cases:Warsaw, Poland;Control:390:controls	diet smoking (tobacco)									
122333		cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Rzeszowska-Wolny, J.  et al. 2005	16038584				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Radiation research. 2005 Aug;164(2):132-40	Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro.		126340	14825	2	2005												
122334		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	19	19q13.3	ERCC2	50546685	50566016		Casson, A. G.  et al. 2005	15878910				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005 Sep;26(9):1536-41	Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma		126340	14837	2	2005	We conclude that  the malignant phenotype probably results from a summation of polymorphic nucleotide excision repair genes showing opposing effects (an increased risk of XPC versus a protective effect of XPD). The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. As GERD and BE are highly prevalent in the general population, this protective effect may well explain why only a fraction of individuals with GERD and BE progress into invasive EADC.	Case:126/125/56 patients with gastroesophageal reflux disease (n=126), Barrett esophagus (n=125) and esophageal:adenocarcinoma (n=56);Control:95 strictly asymptomatic healthy individuals										
122329		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Yuan, P.  et al. 2005	16061005				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Zhonghua yi xue za zhi. 2005 Apr;85(14):972-5	[Polymorphisms in nucleotide excision repair genes XPC and XPD and clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer]		126340	14806	2	2005	 These results suggest that genetic polymorphisms in nucleotide excision repair might be associated with clinical response to platinum-based chemotherapy.		chemotherapy									
122330		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Gao, W. M.  et al. 2003	12844488	Asp312Asn			Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2003 Oct;24(10):1671-6	Association of the DNA repair gene XPD Asp312Asn polymorphism with p53 gene mutations in tobacco-related non-small cell lung cancer.		126340	14809	2	2003	These results suggest that individuals who smoke and have the XPD codon 312 Asp/Asp genotype may be at a greater risk of p53 mutations, especially if combined with other polymorphisms that may result in deficient DNA repair.	Cohort 204 smokers with non-small cell lung cancer 	smoking (tobacco)									
122331		cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Leng, S.  et al. 2004	15764301				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Biomarkers. 2004 Jul-Oct;9(5-Apr):395-406	Associations between XRCC1 and ERCC2 polymorphisms and DNA damage in peripheral blood lymphocyte among coke oven workers.		126340	14819	2	2004	The study showed that the alkaline comet assay is a suitable biomarker in the detection of DNA damage among coke-oven workers and it suggested that the A allele of G27466A polymorphism of XRCC1 may be associated with decreased DNA repair capacity toward PAH-induced base damage and strand breaks.	Case:143 coke-oven workers;Control:50 non-coke-oven workers	polycyclic aromatic hydrocarbons									
122326	Y	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Chen, C. C.  et al. 2005	16172101				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		126340	11782	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
122327		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Chen, S.  et al. 2002	12151350				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Chinese	China	CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2002 Aug;23(8):1321-5	DNA repair gene XRCC1 and XPD polymorphisms and risk of lung cancer in a Chinese population.		126340	12603	2	2002	Our results suggested that the genotypes of XRCC1 194Trp/Trp and XPD 751 Lys allele might be the risk genotypes for lung cancer in Chinese population.	Case:109 Chinese lung cancer patients;Control:109 healthy Chinese control subjects (individually matched on age and gender)	smoking (tobacco)	XRCC1	194Trp/Trp	XPD	751 Lys			Y		lung cancer
122328		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Vogel, U.  et al. 2005	15837542				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Denmark	CDC GDPinfo	2068	Hs.487294			Cancer letters. 2005 May;222(1):67-74	Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer.		126340	14797	2	2005	We found that XPA A23G and XPC Lys939Gln polymorphisms may be risk factors for lung cancer and evidence that positive interactions between the polymorphisms in XPA/XPD and XPC/XPD may occur.	Case:265 lung cancer cases:Cohort:272 individuals used for comparison from 54,220 members of a Danish prospective cohort study										
122323	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Millikan, R. C.  et al. 2005	16258177				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2005	Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the GenesEnvironment and Melanoma study.		126340	10390	2	2005												
122324		colorectal cancer; colorectal polyps	CANCER	CAN	Adenoma|Colorectal Neoplasms|Colonic Polyps|Genetic Predisposition to Disease|Hyperplasia	19	19q13.3	ERCC2	50546685	50566016		Bigler, J.  et al. 2005	16284370				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2501-8	DNA repair polymorphisms and risk of colorectal adenomatous or hyperplastic polyps.		126340	10391	2	2005			smoking (tobacco)									
122325	Y	brain cancer	CANCER	CAN	Astrocytoma|Oligodendroglioma|Brain Neoplasms|Chromosome Deletion	19	19q13.3	ERCC2	50546685	50566016		Yang, P.  et al. 2005	15834925				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer. 2005 Jun;103(11):2363-72	Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas.		126340	10832	2	2005	 These results suggested that alterations in GLTSCR1 (or a closely linked gene) were associated with the development and progression of oligodendroglioma.	Control:108 general controls;Case:141 cases with gliomas (61 cases with astrocytomas, 40 cases with oligodendrogliomas, 40 cases with mixed:oligoastrocytomas)										
122320		breast cancer	CANCER	CAN	Breast Neoplasms|Obesity|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Lee, S. A.  et al. 2005	15886521				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Korean	Korea	CDC GDPinfo	2068	Hs.487294			Experimental & molecular medicine. 2005 Apr;37(2):86-90	Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer.		126340	10383	2	2005	Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women.	Control:502:controls;Case:574 breast cancer cases:Korea		ERCC2	Asp(312)Asn	ERCC4	Ser(835)			Y		breast cancer in Korea
122321		cytogenetic studies	OTHER	OTH	DNA Damage|Chromosome Aberrations	19	19q13.3	ERCC2	50546685	50566016		Vodicka, P.  et al. 2004	14729591				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2004 May;25(5):757-63	Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and singlestrand breaks in DNA		126340	10386	2	2004	Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes coding DNA repair enzymes.	Cohort a central European population 										
122322		cytogenetic studies	OTHER	OTH		19	19q13.3	ERCC2	50546685	50566016		Kuricova, M.  et al. 2005	15992842				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Toxicology and applied pharmacology. 2005 Sep;207(2 Suppl):302-9	DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity.		126340	10388	2	2005	Adhesion molecules sL-selectin and sICAM-1 were associated with XPC genotype (P < 0.05). Individual susceptibility may be reflected in genotoxic and immunotoxic responses to environmental and occupational exposures to xenobiotics.		styrene									
122317		lung cancer	CANCER	CAN		19	19q13.3	ERCC2	50546685	50566016		Camps, C.  et al. 2003	14624713				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Spanish		CDC GDPinfo	2068	Hs.487294			Clinical lung cancer. 2003 Jan;4(4):237-41	Assessment of Nucleotide Excision Repair XPD Polymorphisms in the Peripheral Blood of Gemcitabine/ Cisplatin-Treated Advanced Non-Small-Cell Lung Cancer Patients		126340	10375	2	2003	Although no significant correlation was observed between XPD genotype and objective response, a trend toward better response was observed in patients with XPD polymorphism at codon 312. The map of the nucleotide excision repair pathway can be used to design translational research studies to identify and validate predictive markers of response to cisplatin, and the Spanish Lung Cancer Group has recently accrued 250 gemcitabine/cisplatin-treated NSCLC patients for a prospective assessment of XPD genotype	Cohort 39 patients with gemcitabine/cisplatin-treated locally advanced non-small-cell lung cancer 	cisplatin gemcitabine									
122318	N	breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Kuschel, B.  et al. 2005	16030124				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1828-31	Common polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not associated with breast cancer risk.		126340	10376	2	2005												
122319	Y	thyroid cancer	CANCER	CAN	Thyroid Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Silva, S. N.  et al. 2005	16214924				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Portugal	CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2407-12	Association of polymorphisms in ERCC2 gene with non-familial thyroid cancer risk.		126340	10377	2	2005												
122314		glioma	CANCER	CAN	Glioma|Brain Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Caggana, M.  et al. 2001	11319176				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer epidemiology, biomarkers & prevention. 2001 Apr;10(4):355-60	Associations Between ERCC2 Polymorphisms and Gliomas		126340	10372	2	2001	Although the pattern of association observed here is consistent with a role of ERCC2 variants in the prevention or causation of glioma, these results are also consistent with the possibility that another gene linked to ERCC2 may be involved. This seems especially so because the strongest association was observed with a silent nucleotide variation.	Control:169 controls selected from those identified through random digit dialing who also had blood samples collected, frequency matched for gender, ethnicity, and age;Case:187 cases of adult onset gliomas										
122315		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Park, D. J.  et al. 2001	11751380				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer research. 2001 Dec;61(24):8654-8	A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer.		126340	10373	2	2001	We conclude that  XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to platinum-based chemotherapy.	Cohort 73 patients with metastatic colorectal cancer 	platinum-based chemotheraphy									
122316		lung cancer; esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Xing, D.  et al. 2003	12579497				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Chinese	China	CDC GDPinfo	2068	Hs.487294			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):35-8	[Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing]		126340	10374	2	2003	 The above findings indicate that the Asp312Asn and Lys751Gln polymorphisms in the XPD locus are associated with the risk of lung SCC but not lung adenocarcinoma or esophageal SCC in this Chinese population.	Case:351/325 patients with lung cancer (n=351) and esophageal:cancer (n=325):Beijing, China;Control:383 healthy controls	smoking (tobacco)									
122311		arsenic-induced hyperkeratosis	OTHER	OTH	Arsenic Poisoning|Keratosis|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Ahsan H 2003	12749816				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Bangladesh	KGB	2068	Hs.487294			Toxicology letters. 2003 Jul;143(2):123-31	DNA repair gene XPD and susceptibility to arsenic-induced hyperkeratosis.		126340	2394	1	2003	In conclusion, our findings suggest that the DNA repair gene XPD may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions. Future larger studies are needed to confirm this novel finding and investigate how combinations of different candidate genes and/or other host and environmental factors may influence the risk of arsenic induced skin and other cancers.	Control:105 healthy control from the same community;Case:29 hyperkeratosis cases:Bangladesh										
122312		lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Liang G 2003	12740916				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	chinese	China	KGB	2068	Hs.487294			International journal of cancer. Journal international du cancer. 2003 Jul;105(5):669-73	Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population.		126340	2395	1	2003												
122313		skin cancer; squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Xeroderma Pigmentosum	19	19q13.3	ERCC2	50546685	50566016		Shen, H.  et al. 2001	11309287			intron	Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Cancer research. 2001 Apr;61(8):3321-5	An intronic poly (at) polymorphism of the dna repair gene xpc and risk of squamous cell carcinoma of the head and neck: a case-control study		126340	10371	2	2001	The case-control findings support the hypothesis that the XPC-PAT+ allele may contribute to the risk of developing SCCHN.	Case:287 non-Hispanic white squamous cell carcinoma of head and neck patients;Control:311 control subjects matched on age, sex, ethnicity, and smoking status										
122308		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Kiyohara, C.  et al. 2002	12234692				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		126380	27905	2	2002	Review article		smoking (tobacco)									
122309	Y	Xeroderma pigmentosum and trichothiodystrophy	OTHER	OTH	Xeroderma Pigmentosum|Hair Diseases	19	19q13.3	ERCC2	50546685	50566016		Taylor EM et al. 1997	9238033				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			KGB	2068	Hs.487294			Proceedings of the National Academy of Sciences of the United States of America. 1997 Aug;94(16):8658-63	Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.		126340	2392	1	1997												
122310	Y	smoking	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Gao WM 2003	12844488				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			KGB	2068	Hs.487294			Carcinogenesis. 2003 Oct;24(10):1671-6	Association of the DNA repair gene XPD Asp312Asn polymorphism with p53 gene mutations in tobacco-related non-small cell lung cancer.		126340	2393	1	2003	These results suggest that individuals who smoke and have the XPD codon 312 Asp/Asp genotype may be at a greater risk of p53 mutations, especially if combined with other polymorphisms that may result in deficient DNA repair.	Cohort 204 smokers with non-small cell lung cancer	smoking (tobacco)									
122305		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	19	19q13.2-q13.3	ERCC1	50604711	50673926		Zienolddiny, S.  et al. 2005	16195237				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		126380	24348	2	2005												
122306		body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	CANCER	CAN		19	19q13.2-q13.3	ERCC1	50604711	50673926		Ford, B. N.  et al. 2000	11062157				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Carcinogenesis. 2000 Nov;21(11):1977-81	Identification of single nucleotide polymorphisms in human DNA repair genes.		126380	24349	2	2000	Using this approach, possible associations of sequence variation, and hence of variation in DNA repair, with disease risk can be assessed.	Cohort 142 healthy individuals 										
122307		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926			16393248				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		126380	24350	2	2006			alcohol smoking (tobacco)									
122302		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Weiss, J. M.  et al. 2005	16284373				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		126380	20196	2	2005												
122303	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Isla, D.  et al. 2004	15277258				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Annals of oncology. 2004 Aug;15(8):1194-203	Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer		126380	21242	2	2004	 Patients homozygous for the ERCC1 118 C allele demonstrated a significantly better survival. ERCC1 SNP assessment could be an important component of tailored chemotherapy trials.	Cohort 62 docetaxel-cisplatin-treated advanced non-small-cell lung cancer patients 	cisplatin docetaxel									
122304		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Vogel, U.  et al. 2005	15936590				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Caucasian	Denmark	CDC GDPinfo	2067	Hs.435981			Cancer detection and prevention. 2005 ;29(3):209-14	Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50.		126380	21243	2	2005	While it cannot be ruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma.	Case:322 basal cell carcinoma cases nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion) Copenhagen and Aarhus, Denmark;Control:322 controls nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion)										
122299		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Cell Transformation, Neoplastic	19	19q13.2-q13.3	ERCC1	50604711	50673926		Mort, R.  et al. 2003	12865926				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			British journal of cancer. 2003 Jul;89(2):333-7	Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.		126380	10379	2	2003	We conclude that  these genes do not have an important role in protection against colorectal carcinogenesis.	Case colorectal cancer patients;Control:controls										
122300		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	19	19q13.2-q13.3	ERCC1	50604711	50673926		Stoehlmacher, J.  et al. 2004	15213713				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		126380	14794	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin	XPD	751	ERCC1	118	GSTP1	105	Y	5-FU/oxaliplatin chemotherapy	colorectal cancer
122301		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	19	19q13.2-q13.3	ERCC1	50604711	50673926		Gu, J.  et al. 2005	15746040				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2005 Feb;11(4):1408-15	Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.		126380	14796	2	2005	 These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.	Cohort 288 paitnets with superficial bladder cancer 	Bacillus Calmette-Guerin treatment									
122296		leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer	CANCER	CAN		19	19q13.2-q13.3	ERCC1	50604711	50673926			16314400				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Carcinogenesis. Epub 2005 Nov	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study		126380	10368	2	2005												
122297		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926			16351803				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Ai zheng. 2005 Dec;24(12):1510-3	[Correlation of Genetic Polymorphisms in Nucleotide Excision Repair System to Sensitivity of Advanced Non-Small Cell Lung Cancer Patients to Platinum-based Chemotherapy.]		126380	10369	2	2005	 The genetic polymorphisms of XPC-PAT, XPD Lys751Gln, and ERCC1 C8092A in nucleotide excision repair system may be associated with sensitivity of NSCLC patients to platinum-based chemotherapy.		chemotherapy									
122298	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926			16364765				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Chinese		CDC GDPinfo	2067	Hs.435981			Cancer genetics and cytogenetics. 2006 Jan;164(1):66-70	Lack of association between DNA repair gene ERCC1 polymorphism and risk of lung cancer in a Chinese population		126380	10370	2	2006			smoking (tobacco)									
122293		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Park, D. J.  et al. 2003	16224397				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical advances in hematology & oncology. 2003 Mar;1(3):162-6	ERCC1 gene polymorphism as a predictor for clinical outcome in advanced colorectal cancer patients treated with platinum-based chemotherapy.		126380	10365	2	2003			chemotherapy									
122294		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	19	19q13.2-q13.3	ERCC1	50604711	50673926		Matullo, G.  et al. 2005	16284380				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		126380	10366	2	2005			smoking (tobacco)	XRCC3		XRCC1		PCNA	6084C	Y	smoking (tobacco)	bladder cancer
122295		leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926			16308313				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Carcinogenesis. 2005	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study.		126380	10367	2	2005												
122290		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Lee, K. M.  et al. 2005	15958648				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		126380	10362	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
122291		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Viguier, J.  et al. 2005	16144923	codon 118			Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2005 Sep;11(17):6212-7	ERCC1 codon 118 polymorphism is a predictive factor for the tumor response to oxaliplatin/5-fluorouracil combination chemotherapy in patients with advanced colorectal cancer.		126380	10363	2	2005	 Our observations allowed us to define the first useful predictive criterion for oxaliplatin/5-FU response in patients with metastatic colorectal cancer.		5-flurouracil Irinotecan oxaliplatin									
122292		glioma	CANCER	CAN	Glioma|Brain Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Wrensch, M.  et al. 2005	16212814				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Neuro-oncology. 2005 Oct;7(4):495-507	ERCC1 and ERCC2 polymorphisms and adult glioma.		126380	10364	2	2005												
122287	Y	gastrointestinal toxicity	UNKNOWN	UNK	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Hematologic Diseases|Nausea|Vomiting	19	19q13.2-q13.3	ERCC1	50604711	50673926		Suk, R.  et al. 2005	15746057				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2005 Feb;11(4):1534-8	Polymorphisms in ERCC1 and grade 3 or 4 toxicity in non-small cell lung cancer patients.		126380	10358	2	2005	 Adjusting for performance status and type of treatment regimen, carrying at least one ERCC1 8092A allele is associated with a >2-fold increase in grade 3 or 4 gastrointestinal toxicity among platinum-treated non-small cell lung cancer patients.	Cohort 214 stage III and IV non-small cell lung cancer patients treated first line with platinum-based chemotherapy 	chemotherapy									
122288		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Shen, M.  et al. 2005	15849729				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Chinese		CDC GDPinfo	2067	Hs.435981			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		126380	10359	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
122284	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Zhou, W.  et al. 2004	15297394				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2004 Aug;10(15):4939-43	Excision repair cross-complementation group 1 polymorphism predicts overall survival in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy		126380	10355	2	2004	In conclusion, the ERCC1 C8092A polymorphism may be a useful predictor of OS in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy.	Cohort 128 advanced non-small cell lung cancer patients treated with platinum-based chemotheraphy 	chemotherapy									
122285		melanoma	CANCER	CAN	Melanoma	19	19q13.2-q13.3	ERCC1	50604711	50673926		Liu, D.  et al. 2005	15709194				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Clinical cancer research. 2005 Feb;11(3):1237-46	Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study.		126380	10356	2	2005	 Cytokine gene polymorphisms predicted clinical outcome for advanced melanoma patients who received biochemotherapy. The combined effects of multiple genetic polymorphisms may provide more accurate prognostic information. Additional independent studies are needed to confirm these pilot findings.	Cohort 90 patients with stage IV melanoma treated with biochemotherapy, including cisplatin, vinblastine, and dacarbazine combined with interleukin (IL)-2 and IFN-alpha either with or without tamoxifen 	cisplatin dacarbazine IFN-alpha interleukin (IL)-2 tamoxifen vinblastine									
122281		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Sturgis, E. M.  et al. 2002	12220217				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Archives of otolaryngology--head & neck surgery. 2002 Sep;128(9):1084-8	DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck.		126380	10350	2	2002	 These 2 polymorphisms may contribute to the risk of SCCHN, but larger studies are needed to confirm their role in SCCHN. Combining common DNA repair gene polymorphisms into models of genetic risk of SCCHN may improve risk estimates.	Case:330 newly diagnosed case subjects with SCCHN;Control:330 cancer-free control subjects matched on age (+/- 5 years), sex, smoking status, and alcohol use										
122283	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Ryu, J. S.  et al. 2004	15140544				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Lung cancer (Amsterdam, Netherlands). 2004 Jun;44(3):311-6	Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy.		126380	10353	2	2004	Therefore, we suggest that the C/C genotype in codon 118 of ERCC1 is a surrogate marker for predicting better survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy.	Cohort 109 patients with non-small-cell lung cancer treated with cisplatin combination chemotherapy 	cisplatin									
122278		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Sasaki, H.  et al. 2005	16003726				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Japanese	Japan	CDC GDPinfo	2064	Hs.446352			International journal of cancer. Journal international du cancer. 2006 Jan;118(1):180-4	EGFR and erbB2 mutation status in Japanese lung cancer patients.		164870	21241	2	2005												
122279		multiple sclerosis	IMMUNE	IMM		12	12q13	ERBB3	54760158	54783395		Goedde, R.  et al. 2005	16143043				V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001982.2			CDC GDPinfo	2065	Hs.118681			Journal of negative results in biomedicine [electronic resource]. 2005 Sep;4:7	An extended association screen in multiple sclerosis using 202 microsatellite markers targeting apoptosis-related genes does not reveal new predisposing factors.		190151	16531	2	2005												
122280		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q33.3-q34	ERBB4	211948686	213111597		Norton, N.  et al. 2005	16249994				V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005235.1			CDC GDPinfo	2066	Hs.390729			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):96-101	Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia.		600543	16532	2	2005												
122275	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Frank, B.  et al. 2005	15550452				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Carcinogenesis. 2005 Mar;26(3):643-7	The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.		164870	16528	2	2005	Computational analyses suggest that the Val654-Val655 allele provokes receptor dimerization and activation, thus stimulating kinase activity and cell transformation. We hypothesize that ERBB2 Val654 represents an oncogenic variant which might, in addition, influence clinical outcome and predict a worse prognosis.	Case:348 German familial breast cancer cases;Control:960 corresponding controls										
122276	N	breast cancer	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms|Carcinoma, Ductal, Breast|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		An, H. J.  et al. 2005	15693849				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Korean	Korea	CDC GDPinfo	2064	Hs.446352			Pathology international. 2005 Feb;55(2):48-52	Her2 genotype and breast cancer progression in Korean women.		164870	16529	2	2005	These results suggest that Her2 polymorphism at codon 655 is not associated with the development of breast cancer in Korean women. However, there is a possibility that the valine allele at codon 655 might be related to increased risk of breast cancer progression.	Control:127 Korean control women;Case:177 Korean woment with breast cancer										
122277		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Pinto, D.  et al. 2005	16112085				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Portugal	CDC GDPinfo	2064	Hs.446352			Biochemical and biophysical research communications. 2005 Oct;335(4):1173-8	The influence of HER2 genotypes as molecular markers in ovarian cancer outcome.		164870	16530	2	2005												
122273		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Keshava, C.  et al. 2001	11578807				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Caucasian	United States	CDC GDPinfo	2064	Hs.446352			Cancer letters. 2001 Nov;173(1):37-41	Distribution of HER2(V655) genotypes in breast cancer cases and controls in the United States.		164870	16526	2	2001	The current study suggests the HER2(V655) allele is not a breast cancer risk factor for Caucasians, African-Americans, or Latinas.	Case multiracial cases of breast cancer United States;Control not specified in abstract										
122274		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		McKean-Cowdin, R.  et al. 2001	11731415				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Cancer research. 2001 Dec;61(23):8393-4	Germ-line HER-2 variant and breast cancer risk by stage of disease.		164870	16527	2	2001	Risk of localized breast cancer was significantly elevated among women with the HER-2 variant, but not among women with regional or metastatic disease. Women with at least one copy of the Valine variant were approximately one-half as likely to have high-stage as low-stage breast cancer (P =.02), and this effect was present across racial/ethnic groups.	Cohort women participating in the Hawaii and Los Angeles Multiethnic Cohort 										
122270	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Kalemi, T. G.  et al. 2005	15837541	codon 72			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Greece	CDC GDPinfo	2064	Hs.446352			Cancer letters. 2005 May;222(1):57-65	The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece.		164870	14448	2	2005	results showed that p53 codon 72 polymorphism is statistically significantly associated with breast cancer (OR for Arg/Arg to non-Arg/Arg was 6.66, P=0.0001 at 95% CI 2.63-16.9), but not Her 2 and MTHFR polymorphisms	Case:42 women with breast cancer Northern Greece;Control:51:controls										
122271	N	body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin	METABOLIC	MET		17	17q11.2-q12	ERBB2	35097918	35138441		Bagger, Y. Z.  et al. 2000	11910656				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Danish		CDC GDPinfo	2064	Hs.446352			Climacteric. 2000 Jun;3(2):84-91	Vitamin D receptor and estrogen receptor gene polymorphisms in postmenopausal Danish women: norelation to bone markers or serum lipoproteins		164870	14701	2	2000	 A clinically significant relationship between VDR and ER genotypes and biochemical markers of bone turnover or serum lipoproteins could not be demonstrated in healthy Danish postmenopausal women.	Cohort 499 Danish postmenopausal women after 2 years of hormone replacement therapy Denmark 	hormone replacement therapy									
122268		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness	17	17q11.2-q12	ERBB2	35097918	35138441		Nelson, S. E.  et al. 2005	15987431	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		United States	CDC GDPinfo	2064	Hs.446352			Breast cancer research. 2005 ;7(3):R357-64	A case-control study of the HER2 Ile655Val polymorphism in relation to risk of invasive breast cancer.		164870	10347	2	2005	 Although results from our population-based case-control study show an inverse association between the HER2 Ile655Val polymorphism and risk of invasive breast cancer, most other studies of this single-nucleotide polymorphism suggest an overall null association. Any further study of this polymorphism should involve sample populations with complete risk factor information and sufficient power to evaluate gene-environment interactions between the HER2 polymorphism and factors such as age and family history of breast cancer.		body mass family history									
122269		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local	17	17q11.2-q12	ERBB2	35097918	35138441		Han, W.  et al. 2005	16000574				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Korea	CDC GDPinfo	2064	Hs.446352			Clinical cancer research. 2005 Jul;11(13):4775-8	A haplotype analysis of HER-2 gene polymorphisms:association with breast cancer risk, HER-2 protein expression in the tumor, and disease recurrence in Korea.		164870	10348	2	2005	 Our results suggest that the currently identified genetic polymorphisms of HER-2 are not associated with an increased risk of breast cancer in Korean women, whereas one haplotype does affect protein expression of the tumor and disease outcome.											
122264		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Yokomizo, A.  et al. 2004	15389808				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Japanese		CDC GDPinfo	2064	Hs.446352			The Prostate. 2005 Jan;62(1):49-53	Association of HER-2 polymorphism with Japanese sporadic prostate cancer susceptibility.		164870	10343	2	2004	 Our results indicate that the frequency of Val655 in HER-2 was significantly lower in Japanese Pca patients, however, it was recently reported that Val655 was significant higher in breast cancer patients. This contradictory observation in prostate and breast cancer patients is interesting considering the opposite hormonal sensitivity of these two cancers.	Control:233 matched controls;Case:285 Japanese sporadic prostate cancer patients										
122265	N	breast cancer	CANCER	CAN	Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Benusiglio, P. R.  et al. 2005	15743501				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		England	CDC GDPinfo	2064	Hs.446352			Breast cancer research. 2005 ;7(2):R204-9	Common ERBB2 polymorphisms and risk of breast cancer in a white British population: acase-control study.		164870	10344	2	2005	 In our population, common ERBB2 polymorphisms are not involved in predisposition to breast cancer.	Case:2,192 breast cancer cases:UK;Control:2,257:controls										
122266		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Millikan, R. C.  et al. 2005	15754131	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Breast cancer research and treatment. 2005 Feb;89(3):309-12	HER2 codon 655 polymorphism and breast cancer:results from kin-cohort and case-control analyses.		164870	10345	2	2005	The results provide additional evidence that HER2 codon 655 genotype may predispose to early-onset breast cancer.	Control:controls;Case breast cancer cases										
122261	N	breast cancer	CANCER	CAN	Neoplasms, Ductal, Lobular, and Medullary|Breast Neoplasms|Neoplasm Invasiveness	17	17q11.2-q12	ERBB2	35097918	35138441		Akisik, E.  et al. 2004	15126109				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Experimental and molecular pathology. 2004 Jun;76(3):260-3	Estrogen receptor codon 594 and HER2 codon 655 polymorphisms and breast cancer risk.		164870	10340	2	2004	In conclusion, our results support the view that both the ER codon 594 and HER2 codon 655 polymorphisms are not associated with increased risk of breast cancer.	Case breast cancer cases;Control:controls										
122263		breast cancer	CANCER	CAN	Carcinoma, Ductal|Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Kamali-Sarvestani, E.  et al. 2004	15374636	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Iranian	Iran	CDC GDPinfo	2064	Hs.446352			Cancer letters. 2004 Nov;215(1):83-7	Ile to Val polymorphism at codon 655 of HER-2 gene and breast cancer risk in Iranian women.		164870	10342	2	2004	This association was not found to be significant in the present study. The association between HER-2 genotypes frequency and clinicopathological data was also insignificant, suggesting that the HER-2 polymorphism at codon 655 is unlikely to be a susceptibility locus in Iranian patients with breast cancer.	Control:138:controls;Case:204 Iranian breast cancer cases										
122258	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Disease Progression	17	17q11.2-q12	ERBB2	35097918	35138441		Kuraoka, K.  et al. 2003	14520697				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):593-6	A single nucleotide polymorphism in the transmembrane domain coding region of HER-2 is associated with development and malignant phenotype of gastric cancer.		164870	10337	2	2003	These results suggest that this nucleotide polymorphism in the transmembrane domain-coding region of HER-2 could be associated with development of gastric carcinoma and may serve as a predictor of risk for a malignant phenotype of gastric cancer. The association of HER-2 genotype with clinicopathologic characteristics of gastric cancer was also suggested, which has to be confirmed with a larger sample size.	Case:212 gastric cancer patients;Control:287 control subjects										
122259		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Rutter, J. L.  et al. 2003	14569185	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		District of Columbia	CDC GDPinfo	2064	Hs.446352			Epidemiology (Cambridge, Mass). 2003 Nov;14(6):694-700	The HER2 I655V polymorphism and breast cancer risk in Ashkenazim.		164870	10338	2	2003	These analyses suggest that the HER2 valine allele might be associated with increased risk of breast cancer, especially in young women and in women with a family history of the disease.	Cohort 5,318 Ashkenazi female patients from a community-based study Washington, DC 										
122255	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Wang, L.  et al. 2002	11857355	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			International journal of cancer. Journal international du cancer. 2002 Feb;97(6):787-90	No association between HER-2 gene polymorphism at codon 655 and a risk of bladder cancer.		164870	10334	2	2002	These results suggested that the HER-2 polymorphism at codon 655 is unlikely to be associated with the onset of bladder cancer. Furthermore, the findings suggest no association between this polymorphism and the disease progression in bladder cancer, although the possibility remains that the Ile/Ile genotype may be related to an increased risk of disease progression.	Case:232 patients with transitional cell carcinoma of the:bladder;Control:408 normal controls	smoking (tobacco)									
122257		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Millikan, R.  et al. 2003	12846420	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	African Americans		CDC GDPinfo	2064	Hs.446352			Breast cancer research and treatment. 2003 Jun;79(3):355-64	HER2 codon 655 polymorphism and risk of breast cancer in African Americans and whites.		164870	10336	2	2003	 The HER2 codon 655 polymorphism may be one of many low-penetrant genes that make a minor contribution to breast cancer, particularly in subgroups of women. Additional large studies, as well as data pooling, will be needed to estimate the contribution of such genes to breast cancer risk.	Control:1,808:controls;Case:2,015 breast cancer cases from the Carolina Breast Cancer:study										
122252	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	HER2	35097918	35138441		Ameyaw MM et al. 2002	12166652				v-erb-b2 erythroblastic leukemia viral oncogene homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005862			KGB	2064	Hs.446352			Journal of human genetics. 2002 ;47(4):172-5	Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer.		164870	2390	1	2002												
122254		bladder cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Ameyaw, M. M.  et al. 2000	11106692				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	African American	Africa|United States|China	CDC GDPinfo	2064	Hs.446352			Journal of the National Cancer Institute. 2000 Dec;92(23):1947	Re: population-based, case-control study of HER2genetic polymorphism and breast cancer risk.		164870	10333	2	2000	These data suggest that this SNP has variable frequency in different ethnic groups. In addition, intraracial differences in allele frequency were seen. The presence of the Val allele in the African-American population, but not in the African population is consistent with the genetic mixing, which has been identified through historical and molecular analysis. However, the presence of many first-generation immigrant populations in the United States provides warning for the overinterpretation of results from any one ethnic group. Therefore, the usefulness of the HER2 SNP in the determination of risk, prognosis, and treatment response of breast cancer will be dramatically different between ethnic populations.	Cohort 275/90/200 Caucasian (n=275), African-American (n=90), and African-Ghanain (n=200) healthy blood donors. 										
122249	Y	breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis	17	17q11.2-q12	ERBB2	35097918	35138441		Zhou D et al. 1987	3664511				-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			KGB	2064	Hs.446352			Cancer research. 1987 Nov;47(22):6123-5	Association of multiple copies of the c-erbB-2 oncogene with spread of breast cancer.		164870	2387	1	1987												
122250		non-inflammatory breast carcinomas	CANCER	CAN	Adenocarcinoma|Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Prost S et al. 1994	7927865				-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			KGB	2064	Hs.446352			International journal of cancer. Journal international du cancer. 1994 Sep;58(6):763-8	Association of c-erbB2-gene amplification with poor prognosis in non-inflammatory breast carcinomas but not in carcinomas of the inflammatory type.		164870	2388	1	1994												
122251	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	17	17q11.2-q12	HER2	35097918	35138441	n	Wang L et al. 2002	11857355				v-erb-b2 erythroblastic leukemia viral oncogene homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005862			KGB	2064	Hs.446352			International journal of cancer. Journal international du cancer. 2002 Feb;97(6):787-90	No association between HER-2 gene polymorphism at codon 655 and a risk of bladder cancer.		164870	2389	1	2002			smoking (tobacco)									
122246		oral cavity cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Chen IH 2003	12915878				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Taiwan	KGB	2064	Hs.446352			British journal of cancer. 2003 Aug;89(4):681-6	Prognostic significance of EGFR and Her-2 in oral cavity cancer in betel quid prevalent area cancer prognosis.		164870	2384	1	2003												
122247	Y	gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Disease Progression	17	17q11.2-q12	ERBB2	35097918	35138441		Kuraoka K 2003	14520697				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			KGB	2064	Hs.446352			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):593-6	A single nucleotide polymorphism in the transmembrane domain coding region of HER-2 is associated with development and malignant phenotype of gastric cancer.		164870	2385	1	2003	These results suggest that this nucleotide polymorphism in the transmembrane domain-coding region of HER-2 could be associated with development of gastric carcinoma and may serve as a predictor of risk for a malignant phenotype of gastric cancer. The association of HER-2 genotype with clinicopathologic characteristics of gastric cancer was also suggested, which has to be confirmed with a larger sample size.	Case:212 gastric cancer patients;Control:287 control subjects										
122248		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Ginestier C 2004	14991893				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			KGB	2064	Hs.446352			The Journal of pathology. 2004 Mar;202(3):286-98	Comparative multi-methodological measurement of ERBB2 status in breast cancer.		164870	2386	1	2004												
122242	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	8	8p21-p12	EPHX2	27404561	27458403		Ohtoshi, K.  et al. 2005	15845398				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4		Japan	CDC GDPinfo	2053	Hs.212088			Biochemical and biophysical research communications. 2005 May;331(1):347-50	Association of soluble epoxide hydrolase gene polymorphism with insulin resistance in type 2 diabetic patients.		132811	10332	2	2005	These results suggest that sEH and EDHF play some important role in the pathogenesis of insulin resistance found in type 2 diabetes.	Control:205 non-diabetic subjects;Case:294 Japanese type 2 diabetic patients										
122243	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	8	8p21-p12	EPHX2	27404561	27458403		Fornage, M.  et al. 2005	16115816				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			CDC GDPinfo	2053	Hs.212088			Human molecular genetics. 2005 Oct;14(19):2829-37	The soluble epoxide hydrolase gene harbors sequence variation associated with susceptibility to and protection from incident ischemic stroke.		132811	16525	2	2005												
122245	Y	Familial erythrocytosis	OTHER	OTH	Polycythemia	19	19p13.3-p13.2	EPOR	11349300	11356019		Arcasoy MO et al. 1997	9192789				Erythropoietin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000121.2			KGB	2057	Hs.631624			Blood. 1997 Jun;89(12):4628-35	Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.		133171	2383	1	1997												
122238	N	Asthma	IMMUNE	IMM	Asthma	8	8p21-p12	EPHX2	27404561	27458403	n	Unoki M 2000	10830912	A1701G			Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	Japanese	Japan	KCB	2053	Hs.212088			Human genetics. 2000 Apr;106(4):440-6			132811	2380	1	2000												
122240	Y	coronary artery calcification	CARDIOVASCULAR	CARD	Coronary Artery Disease|Calcinosis|Genetic Predisposition to Disease	8	8p21-p12	EPHX2	27404561	27458403		Fornage M 2004	14732757				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	American		KGB	2053	Hs.212088			Circulation. 2004 Jan;109(3):335-9	Polymorphism of the soluble epoxide hydrolase is associated with coronary artery calcification in African-American subjects: The Coronary Artery Risk Development in Young Adults (CARDIA) study.		132811	2382	1	2004	 These data suggest an intriguing and possibly novel role for sEH in the pathogenesis of atherosclerosis, which deserves additional investigation.	Cohort young, largely asymptomatic African-American and non-Hispanic white subjects										
122241	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Calcinosis|Genetic Predisposition to Disease	8	8p21-p12	EPHX2	27404561	27458403		Fornage, M.  et al. 2004	14732757				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	African American		CDC GDPinfo	2053	Hs.212088			Circulation. 2004 Jan;109(3):335-9	Polymorphism of the Soluble Epoxide Hydrolase Is Associated With Coronary Artery Calcification in African-American Subjects. The Coronary Artery Risk Development In Young Adults (CARDIA) Study		132811	10331	2	2004	 These data suggest an intriguing and possibly novel role for sEH in the pathogenesis of atherosclerosis, which deserves additional investigation.	Cohort young, largely asymptomatic African-American and non-Hispanic white subjects 										
122234		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Landi, S.  et al. 2005	16006997				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		132810	28283	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
122235	N	Asthma	IMMUNE	IMM	Asthma	8	8p21-p12	EPHX2	27404561	27458403	n	Unoki M 2000	10830912	T1759C			Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	Japanese	Japan	KCB	2053	Hs.212088			Human genetics. 2000 Apr;106(4):440-6			132811	2377	1	2000												
122236	N	Asthma	IMMUNE	IMM	Asthma	8	8p21-p12	EPHX2	27404561	27458403	n	Unoki M 2000	10830912	G1272A			Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	Japanese	Japan	KCB	2053	Hs.212088			Human genetics. 2000 Apr;106(4):440-6			132811	2378	1	2000												
122237	N	Asthma	IMMUNE	IMM	Asthma	8	8p21-p12	EPHX2	27404561	27458403	n	Unoki M 2000	10830912	G847A			Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	Japanese	Japan	KCB	2053	Hs.212088			Human genetics. 2000 Apr;106(4):440-6			132811	2379	1	2000												
122231		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Esfandiary, H.  et al. 2005	15774926				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		132810	27705	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
122232		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Kiyohara, C.  et al. 2002	12234692				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		132810	27706	2	2002	Review article		smoking (tobacco)									
122233		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Sachse, C.  et al. 2002	12419832				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		England	CDC GDPinfo	2052	Hs.89649			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		132810	27904	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
122228		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	1	1q42.1	EPHX1	224064453	224099884			16369102				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		132810	26851	2	2006			diet family history stress									
122229		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Wang, X.  et al. 2001	11520401				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		China	CDC GDPinfo	2052	Hs.89649			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		132810	26852	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
122230		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Liu, Y.  et al. 2005	15654505				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Japanese	Japan	CDC GDPinfo	2052	Hs.89649			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		132810	27414	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
122226	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Figer, A.  et al. 2003	14719475				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		132810	24347	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
122227		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Garte, S.  et al. 2001	11751440				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		132810	25968	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
122222		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Liang, G. Y.  et al. 2004	15640066				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Chinese	China	CDC GDPinfo	2052	Hs.89649			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		132810	24343	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
122223		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Ivashchenko, T. E.  et al. 2003	12760253				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		132810	24344	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
122224		cytogenetic studies	OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884		Cheng, J.  et al. 2005	15938845				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		132810	24345	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
122219		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Leng, S. G.  et al. 2004	15355699				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		132810	24340	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
122220		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Leng, S. G.  et al. 2004	15061915				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		132810	24341	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
122221		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Soucek, P.  et al. 2002	12397416				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		132810	24342	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
122216		DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	1	1q42.1	EPHX1	224064453	224099884		Vodicka, P.  et al. 2001	11535253				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		132810	24337	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
122217		bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	1	1q42.1	EPHX1	224064453	224099884		Korytina, G. F.  et al. 2005	15928955				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		132810	24338	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
122218	Y	emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Budhi, A.  et al. 2003	12579334				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Japanese	Japan	CDC GDPinfo	2052	Hs.89649			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		132810	24339	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
122213		cytogenetic studies	OTHER	OTH	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Naccarati, A.  et al. 2005	16043197				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		132810	24334	2	2005												
122214		lymphoma; Hodgkin's disease	CANCER	CAN		1	1q42.1	EPHX1	224064453	224099884		Sarmanova, J.  et al. 2000	11191882				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		132810	24335	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
122215		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Sarmanova, J.  et al. 2001	11406608				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		132810	24336	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
122210		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic|DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Dirksen, U.  et al. 2003	14681495				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Pediatric research. 2004 Mar;55(3):466-71	Glutathione S transferase theta 1 gene (GSTT1) null genotype is associated with an increased risk for acquired aplastic anemia in children.		132810	21238	2	2003	In no combinations of the mentioned parameters was an association found with acquired aplastic anemia. GST are mainly involved in metabolizing hematotoxic and mutagenic substrates such as benzene derivatives. The GSTT1 null genotype may modulate the metabolism of exogenous pollutants or toxic intermediates. The absence of the GSTT1 enzyme, leading to genetic susceptibility toward certain pollutants, might determine the individual risk for development of acquired aplastic anemia in children.	Control:controls;Case individuals with acquired aplastic anemia										
122211		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Haque, A. K.  et al. 2004	15536330				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Applied immunohistochemistry & molecular morphology. 2004 Dec;12(4):315-22	CYP2E1 polymorphism, cigarette smoking, p53 expression, and survival in non-small cell lung cancer: a long term follow-up study.		132810	21239	2	2004	No association was found between survival and tumor type; tumor differentiation; expression of phospho-AKT, p27, and bcl-2; and polymorphic metabolizing genes other than CYP2E1. The significant association of long duration of smoking (>40 years) with loss of p53 expression and poor survival suggests inactivation of the protective p53 pathway in those who had a history of more than 40 years of smoking.	Cohort 87 lung cancer patients 	smoking (tobacco)									
122212		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		van der Logt, E. M.  et al. 2005	16039674				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Mutation research. 2006 Jan;593(2-Jan):39-49	Role of epoxide hydrolase, NAD(P)H:quinoneoxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer.		132810	24333	2	2005												
122207		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Sierra-Torres, C. H.  et al. 2003	12552594				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Environmental and molecular mutagenesis. 2003 ;41(1):69-76	Polymorphisms for chemical metabolizing genes and risk for cervical neoplasia		132810	21235	2	2003	Further studies using larger populations will be needed to confirm our observations and to validate data for disease prevention.	Control:75 matched healthy controls;Case:76 cases with high-grade cervical neoplasia or with invasive cervical cancer	smoking (tobacco)									
122208		exposure to 1,3-butadiene	PHARMACOGENOMIC	PHARM		1	1q42.1	EPHX1	224064453	224099884		Fustinoni, S.  et al. 2002	12376511				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1082-90	Influence of metabolic genotypes on biomarkers of exposure to 1,3-butadiene in humans.		132810	21236	2	2002	Our results indicate that the THBVal level is influenced by genotypes, and that the analysis of combined polymorphisms may be the key to a better understanding of the role played by polymorphism of BD-metabolizing enzymes.	Control:10:clerks;Case:30 Italian 1,3-butadiene-exposed workers										
122209		styrene toxicity	UNKNOWN	UNK		1	1q42.1	EPHX1	224064453	224099884		Teixeira, J. P.  et al. 2004	14751678				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Toxicology. 2004 Feb;195(3-Feb):231-42	Occupational exposure to styrene: modulation ofcytogenetic damage and levels of urinary metabolites of styrene by polymorphisms in genes CYP2E1, EPHX1, GSTM1, GSTT1 and GSTP1.		132810	21237	2	2004	The present data seem to suggest that apart from the methodology usually used for monitoring populations occupationally exposed to styrene (urinary metabolites and biomarkers of early biological effects) the analysis of individual genotypes associated with the metabolic fate of styrene should also be carried out in order to evaluate the individual genetic susceptibility of exposed populations.	Control:28 control subjects;Case:28 reinforced plastic workers										
122204		cytogenetic studies	OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884		Schlade-Bartusiak, K.  et al. 2004	15036125				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Mutation research. 2004 Mar;558(2-Jan):121-30	Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes.		132810	21232	2	2004	Our study shows that the combined analysis of polymorphisms in metabolizing enzymes may lead to a better understanding of their contribution to an individual's susceptibility to DEB.	Cohort 63 healthy donors 										
122205		warfarin sensitivity	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Loebstein, R.  et al. 2005	15900282				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Clinical pharmacology and therapeutics. 2005 May;77(5):365-72	Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9.		132810	21233	2	2005	 Variant mEH T 612 C genotypes are associated with warfarin doses of greater than 50 mg/wk beyond the effect of CYP2C9.	Cohort 100 patients undergoing therapeutic anticoagulation 										
122206		cervical cancer	CANCER	CAN	Warts|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Au, W. W.   2004	15138035				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		United States|Venezuela	CDC GDPinfo	2052	Hs.89649			Toxicology. 2004 May;198(3-Jan):117-20	Life style, environmental and genetic susceptibility to cervical cancer.		132810	21234	2	2004	Our study indicates that the same susceptibility factors can have very different roles in the development of the same disease such as CC in different countries. The information is useful for the development of effective but different disease prevention programs for different countries in the control of CC.	Cohort cervical cancer patients Venezuela 										
122201		1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Kuljukka-Rabb, T.  et al. 2002	11859435				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Journal of exposure analysis and environmental epidemiology. 2002 Jan-Feb;12(1):81-91	The effect of relevant genotypes on PAH exposure-related biomarkers.		132810	21229	2	2002	Our study shows that a comprehensive assessment of exposure is essential for elucidation of PAH exposure at a workplace. Even at high exposures metabolic polymorphisms seem to have some effect on biomarker levels, and should be assessed in biomonitoring studies	Cohort coke oven workers ;Control controls not specified	smoking (tobacco)									
122202		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Yin, L.  et al. 2001	11551408				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		China	CDC GDPinfo	2052	Hs.89649			Lung cancer (Amsterdam, Netherlands). 2001 Aug-Sep;33(3-Feb):133-41	Genetic polymorphisms of NAD(P)H quinone oxidoreductase, CYP1A1 and microsomal epoxide hydrolase and lung cancer risk in Nanjing, China.		132810	21230	2	2001	Our results suggest that HYL1*2 polymorphism might be a risk factor for smoking-associated lung cancer in China.	Case:84 lung cancer patients:Nanjing, China;Control:84 controls matched by age, gender, occupation and smoking status	smoking (tobacco)									
122198		cytogenetic studies	OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884		Lodovici, M.  et al. 2004	15298956				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1342-8	Benzo(a)pyrene Diolepoxide (BPDE)-DNA Adduct Levels in Leukocytes of Smokers in Relation to Polymorphism of CYP1A1, GSTM1, GSTP1, GSTT1, and mEH		132810	21226	2	2004	In conclusion, CYP1A1, GSTM1, and GSTP1 genotyping seems to be a risk predictor of BPDE-DNA adduct formation in leukocytes.	Cohort 41 healthy smokers 	smoking (tobacco)									
122199		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Tuominen, R.  et al. 2002	11967624				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		132810	21227	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
122200		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Turner, F.  et al. 2004	15352038				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Great Britain	CDC GDPinfo	2052	Hs.89649			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		132810	21228	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
122195		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		De Jong, D. J.  et al. 2003	12631667				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomalepoxide hydrolase.		132810	21223	2	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
122196	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Casson, A. G.  et al. 2003	12670526				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer detection and prevention. 2003 ;27(2):139-46	Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma.		132810	21224	2	2003	We conclude that  polymorphisms of GSTP1 and mEH may be implicated in individual susceptibility to esophageal adenocarcinoma, possibly as a result of increased Phase I activation (mEH) and impaired Phase II detoxification (GSTP1). GSTT1 may also play a role in esophageal tumorigenesis through a pathway that involves abnormalities in the p53 tumor suppressor gene.	Case:45 patients with surgically resected esophageal:adenocarcinomas;Control:45 healthy controls from the same geographic region matched for age, gender and smoking history										
122197		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Wang, L. D.  et al. 2003	12854128				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		China	CDC GDPinfo	2052	Hs.89649			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study ofpopulation from a high- incidence area in north China.		132810	21225	2	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
122192		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Sandford, A. J.  et al. 2002	12149538				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		132810	21220	2	2002	Review article		smoking (tobacco)									
122193		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	1	1q42.1	EPHX1	224064453	224099884		Ishikawa, K.  et al. 2005	15838728				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		132810	21221	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
122194		prostate cancer	CANCER	CAN	Cleft Palate|Cleft Lip|Mouth Abnormalities|Prenatal Exposure Delayed Effects	1	1q42.1	EPHX1	224064453	224099884		Hartsfield, J. K. Jr et al. 2001	11471167				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			American journal of medical genetics. 2001 Jul;102(1):21-4	Analysis of the EPHX1 113 polymorphism and GSTM1 homozygous null polymorphism and oral clefting associated with maternal smoking		132810	21222	2	2001	Using the odds ratio as a measure of association, we did not observe elevated risks of CL/P associated with either allelic comparison. This suggests that when mothers smoke periconceptionally, their infants having these alleles at either (or both) loci were not at substantially increased risk for CL/P compared to infants with the wild-type alleles.	Control:110 tested for EPHX1 genotype;Control:51 tested for GSTM1;Case:79 infants were diagnosed with isolated cleft lip with or without cleft palate tested to GSTM1;Case:85 infants were diagnosed with isolated cleft lip with or without cleft palate tested for EPHX1	smoking (tobacco), maternal									
122189	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Lin, Y. C.  et al. 2005	16029924				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer letters. 2005	The association between microsomal epoxide hydrolase genotypes and esophageal squamous-cell-carcinoma in Taiwan: Interactionbetween areca chewing and smoking.		132810	16523	2	2005			areca smoking (tobacco)									
122190		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Hersh, C. P.  et al. 2005	15817713				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			American journal of respiratory cell and molecular biology. 2005 Jul;33(1):71-8	Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.		132810	17504	2	2005	Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.	Case chronic obstructive pulmonary disease cases;Control:controls										
122191		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	1	1q42.1	EPHX1	224064453	224099884		Murray, J. C.   2002	12030886				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		132810	21219	2	2002	Review article											
122186		carbamazepine	UNKNOWN	UNK	Epilepsy	1	1q42.1	EPHX1	224064453	224099884		Nakajima, Y.  et al. 2005	15692831				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Japanese	Japan	CDC GDPinfo	2052	Hs.89649			European journal of clinical pharmacology. 2005 Mar;61(1):25-34	Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients.		132810	16519	2	2005	 These results show that some EPHX1 haplotypes are associated with altered CBZ-epoxide metabolism. This is the first report on the haplotype structures of EPHX1 and their potential in vivo effects.	Cohort 96 Japanese epileptic patients, including 58 carbamazepine-administered patients 										
122187		1,3-butadiene toxicity	PHARMACOGENOMIC	PHARM		1	1q42.1	EPHX1	224064453	224099884		Abdel-Rahman, S. Z.  et al. 2005	15716486				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Toxicological sciences. 2005 May;85(1):624-31	Variability in human sensitivity to 1,3-butadiene:influence of polymorphisms in the 5'-flanking region of the microsomal epoxide hydrolase gene (EPHX1).		132810	16520	2	2005	These new data confirm and extend our previous findings that sensitivity to the genotoxic effects of BD is inversely correlated with predicted mEH activity.	Cohort 49 non-smoking workers from two styrene-butadiene rubber facilities southeast Texas 										
122188		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Park, J. Y.  et al. 2005	15901990				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			European journal of cancer prevention. 2005 Jun;14(3):223-30	Genetic analysis of microsomal epoxide hydrolase gene and its association with lung cancer risk.		132810	16522	2	2005	These results suggest that the EH polymorphism plays an important role in lung cancer risk and is linked to tobacco smoke exposure.	Case:182 Caucasian incident cases with primary lung cancer;Control:365 frequency-matched controls	smoking (tobacco)									
122183		orolaryngeal cancer	CANCER	CAN	Laryngeal Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Park, J. Y.  et al. 2003	12747973				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian		CDC GDPinfo	2052	Hs.89649			Oral oncology. 2003 Jul;39(5):483-90	Epoxide hydrolase genotype and orolaryngeal cancer risk: interaction with GSTM1 genotype.		132810	16514	2	2003	These results suggest that EH polymorphisms play an important role in risk for orolaryngeal cancer in Caucasians.	Control:335:controls;Case:81/142 African American (n=81) and Caucasian (n=142) incident orolaryngeal cancer patients										
122184		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Sarmanova, J.  et al. 2004	15280903				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			European journal of human genetics. 2004 Oct;12(10):848-54	Breast cancer: role of polymorphisms inbiotransformation enzymes		132810	16517	2	2004	In conclusion, the results suggest that genetic polymorphisms in biotransformation enzymes may play a significant role in the development of breast cancer.	Case:238 patients with breast cancer;Control:313 healthy individuals										
122185		placental abruption	REPRODUCTION	REP	Abruptio Placentae	1	1q42.1	EPHX1	224064453	224099884		Toivonen, S.  et al. 2004	15582499				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Journal of the Society for Gynecologic Investigation. 2004 Dec;11(8):540-4	Low-activity haplotype of the microsomal epoxide hydrolase gene is protective against placental abruption.		132810	16518	2	2004	 The use of two intragenic SNPs jointly in haplotype analysis of association demonstrated that the genetically determined low-activity haplotype C-A (His113-His139) was significantly less frequent in women with placental abruption.	Control:115 healthy control pregnant women;Case:117 women with placental abruption										
122180	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q42.1	EPHX1	224064453	224099884		Gebhardt, G. S.  et al. 2004	16147638				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Coloured population of the Western Cape, South Africa.	South Africa	CDC GDPinfo	2052	Hs.89649			Journal of obstetrics and gynaecology. 2004 Nov;24(8):866-72	Maternal and fetal single nucleotide polymorphisms in the epoxide hydrolase and gluthatione S-transferase P1 genes are not associated with pre-eclampsia in the Coloured population of the Western Cape, South Africa.		132810	10989	2	2004												
122181	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Wenghoefer, M.  et al. 2003	12491039				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Archives of toxicology. 2003 Jan;77(1):37-41	Association between head and neck cancer and microsomal epoxide hydrolase genotypes.		132810	16512	2	2003	This supports uncertainties in categorizing genotypes with respect to limited enzyme activity data, especially when taken from in vitro experiments.	Control:189:controls;Case:280 squamous cell head and neck cancer patients	smoking (tobacco)									
122182		1,3-butadiene sensitivity	PHARMACOGENOMIC	PHARM		1	1q42.1	EPHX1	224064453	224099884		Abdel-Rahman, S. Z.  et al. 2003	12605384				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Environmental and molecular mutagenesis. 2003 ;41(2):140-6	Variability in human sensitivity to 1,3-butadiene:Influence of the allelic variants of the microsomal epoxide hydrolase gene.		132810	16513	2	2003	Our results indicate that mEH genotypes may play a significant role in human sensitivity to the genotoxic effects of exposure to BD.	Cohort 49 nonsmoking workers from two styrene-butadiene rubber facilities southeast Texas 										
122177	Y	DNA damage	OTHER	OTH	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Buschini, A.  et al. 2003	12717779				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Environmental and molecular mutagenesis. 2003 ;41(4):243-52	Genetic polymorphism of drug-metabolizing enzymes and styrene-induced DNA damage.		132810	10958	2	2003	The field survey confirms that styrene exposure is associated with increased DNA damage and indicates a modulating role for GSTM1 and GSTT1 genotypes. In vitro experiments suggest that the extent of SO-induced DNA strand breaks depends, at least in part, on interindividual differences in GSH-conjugation capabilities.	Control:14 unexposed healthy controls;Case:48 worders exposed to styrene	styrene									
122178		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Leng, S.  et al. 2004	15466980				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1631-9	Effects of Genetic Polymorphisms of Metabolic Enzymes on Cytokinesis-Block Micronucleus in Peripheral Blood Lymphocyte among Coke-Oven Workers		132810	10973	2	2004	These results indicate that the mEH, GSTP1, and GSTM1 polymorphisms may play a role in sensitivity or genetic susceptibility to the genotoxic effects of PAH exposure in the coke-oven workers.	Case:141 coke-oven workers;Control:66 non-coke-oven worker controls	polycyclic aromatic hydrocarbons									
122179		perinatal mortality	OTHER	OTH	Obstetric Labor, Premature|Infant, Newborn, Diseases|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Raijmakers, M. T.  et al. 2004	15488121	Tyr113His			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Netherlands	CDC GDPinfo	2052	Hs.89649			Acta obstetricia et gynecologica Scandinavica. 2004 Nov;83(11):1056-60	The Tyr113His polymorphism in exon 3 of the microsomal epoxide hydrolase gene is a risk factor for perinatal mortality.		132810	10974	2	2004	 Our results suggest that the maternal Tyr113His polymorphism in EPHX may be a risk factor for perinatal mortality. However, more research is needed to determine the implication of this finding.	Control:71/66 females (n=71) and males (n=66) with no complications in their obstetric history;Case:72/46 females (n=72) and males (n=46) with a history of preinatal mortality										
122174		lung cancer	CANCER	CAN	Lung Neoplasms|Cocarcinogenesis	1	1q42.1	EPHX1	224064453	224099884			16357600				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Epidemiology (Cambridge, Mass). 2006 Jan;17(1):89-99	EPHX1 Polymorphisms and the Risk of Lung Cancer: AHuGE Review		132810	10329	2	2006	 EPHX1 enzyme may act as a phase I enzyme in lung carcinogenesis. The low-activity genotype of EPHX1 gene is associated with decreased risk of lung cancer among whites.											
122175	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q42.1	EPHX1	224064453	224099884		Farin, F. M.  et al. 2001	11692079				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Pharmacogenetics. 2001 Nov;11(8):703-8	Genetic polymorphisms of microsomal and soluble epoxide hydrolase and the risk of Parkinson's disease		132810	10330	2	2001	Common polymorphisms within EPHX1 and EPHX2 do not appear to be important risk factors for Parkinson's disease.	Case:133 idiopathic Parkinson's disease patients;Control:212 control subjects matched on age, gender and:ethnicity										
122176		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	1	1q42.1	EPHX1	224064453	224099884		To-Figueras, J.  et al. 2002	12359356				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer letters. 2002 Dec;187(2-Jan):95-101	Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk.		132810	10953	2	2002	These results on larynx cancer tend to confirm a former study on lung cancer (Cancer Lett. 173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers.	Control:203 healthy controls;Case:204 patients with larynx cancer										
122171		liver cancer	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Kirk, G. D.  et al. 2005	15734960				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Gambia	CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):373-9	Hepatocellular carcinoma and polymorphisms in carcinogen-metabolizing and DNA repair enzymes in a population with aflatoxin exposure and hepatitis B virus endemicity.		132810	10326	2	2005	Our findings suggest that genetic modulation of carcinogen metabolism and DNA repair can alter susceptibility to HCC and that these effects may be modified by environmental factors.	Case:216 hepatocellular cancer cases Gambia, West Africa;Control:408 frequency-matched controls with no clinically apparent liver disease	peanuts	GSTM1	null	HLY1	2 (HY/HH)	XRCC1	(AG/GG)	Y	aflatoxin exposure due to groundnut consumption and Hepatitis B virus endemicity	hepatocellular carcinoma
122172		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Voho, A.  et al. 2005	16005144				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer letters. 2005	EPHX1 gene polymorphisms and individual susceptibility to lung cancer.		132810	10327	2	2005												
122173		vinyl choride toxicity	UNKNOWN	UNK		1	1q42.1	EPHX1	224064453	224099884		Li, Y.  et al. 2005	16201204				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	French		CDC GDPinfo	2052	Hs.89649			International journal of occupational medicine and environmental health. 2005 ;18(2):133-8	Polymorphisms of microsomal epoxide hydrolase in French vinyl chloride workers.		132810	10328	2	2005	 The results suggest that polymorphisms in microsomal epoxide hydrolase do not play a significant role in susceptibility to the mutagenic effects of vinyl chloride.											
122168	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Huang, W. Y.  et al. 2005	15668489				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):152-7	Microsomal epoxide hydrolase polymorphisms and risk for advanced colorectal adenoma.		132810	10323	2	2005	In conclusion, EPHX1 variants at codon 113 and 139 associated with high predicted enzymatic activity appear to increase risk for colorectal adenoma, particularly among recent and current smokers.	Case:772 ases with advanced adenoma (adenoma >/=1 cm or containing high-grade dysplasia or villous, including tubulovillous, elements) of the distal colon (left-sided, descending colon and sigmoid or:rectum);Control:777 gender- and age-matched controls who were screen-negative for left-sided adenoma	smoking (tobacco)									
122169		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Park, J. Y.  et al. 2005	15702235				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			International journal of molecular medicine. 2005 Mar;15(3):443-8	Polymorphisms for microsomal epoxide hydrolase and genetic susceptibility to COPD.		132810	10324	2	2005	As expected, a significant correlation between smoking dose and severity of COPD was observed (p<0.001). These results suggest that EH codon 113 polymorphism may modify risk for COPD.	Case:131 chronic obstructive pulmonary disease patients;Control:262 individually matched controls by age (+/-5 years)										
122170	Y	birth weight	REPRODUCTION	REP	Birth Weight	1	1q42.1	EPHX1	224064453	224099884		Liang, H. Y.  et al. 2005	15719050				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Beijing da xue xue bao Yi xue ban. 2005 Feb;37(1):85-9	[Associations of genetic polymorphisms in the EPHX1 gene and the GSTT1 gene with low birth weight in neonates]		132810	10325	2	2005	 The combination between genetic polymorphisms in the EPHX1 gene and the GSTT1 gene in neonates is significantly associated with neonatal low birth weight.	Control:173 mother-non low birth weight neonate pairs;Case:73 mother-low birth weight neonate pairs		EPHX1	139	GSTT1				Y		low birth weight in neonates
122165		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	1	1q42.1	EPHX1	224064453	224099884		Harms, C.  et al. 2004	15199549				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		132810	10319	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)	GSTM1/T1	null	XPD	Lys/Gln + Gln/Gln			Y	smoking (tobacco)	lung cancer
122166		benzene toxicity	METABOLIC	MET	Occupational Diseases|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Zhang, Z. B.  et al. 2004	15256148				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Jun;22(3):176-80	[Relationship of genetic polymorphism of microsomal epoxide hydrolase with susceptibility of chronic benzene poisoning]		132810	10320	2	2004	 The subjects carrying mEHc.113 C/C genotype and together with non-smoking or non-drinking habit may have lower risk of chronic benaene poisoning.	Control:152 workers occupationally exposed to benzene without poisoning manifestations;Case:152 benzene poisoning patients	benzene smoking (tobacco)									
122167	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Habalova, V.  et al. 2004	15640939				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Neoplasma. 2004 ;51(5):352-7	Combined analysis of polymorphisms in glutathione S-transferase M1 and microsomal epoxide hydrolase in lung cancer patients		132810	10322	2	2004	The combined EPHX1 homozygote genotype His113/His139 (predicted very slow activity) versus all other genotype combination was associated with an increased risk of lung cancer . No overall relationship between genotype combinations predicted high EPHX1 activity and lung cancer risk was confirmed in all followed respects. 	Case:121 lung cancer patients;Control:150:controls	smoking (tobacco)									
122162	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Xiao, D.  et al. 2003	14642084				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Chinese		CDC GDPinfo	2052	Hs.89649			Zhonghua yi xue za zhi. 2003 Oct;83(20):1782-6	[Association between polymorphisms in the microsomal epoxide hydrolase (mEH) gene and chronic obstructive pulmonary disease]		132810	10316	2	2003	 (1) mEH heterozygotes in exon3 might be associated with the susceptibility to COPD in China. (2) The interaction might be existed between mEH genotype and smoke.	Case:100 chronic obstructive pulmonary disease patients:China;Control:100 age and sex matched controls	smoking (tobacco)									
122163	N	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Zhang, J. H.  et al. 2003	14669306	tyr113his			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Chinese	China	CDC GDPinfo	2052	Hs.89649			World journal of gastroenterology. 2003 Dec;9(12):2654-7	Epoxide hydrolase Tyr113His polymorphism is not associated with susceptibility to esophageal squamous cell carcinoma in population of North China.		132810	10317	2	2003	 MEH Tyr113His polymorphism may not be used as a stratification marker in screening individuals at a high risk of ESCC.	Control:252 healthy subjects;Case:257 patients with esophageal squamous cell carcinoma										
122164		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Tranah, G. J.  et al. 2004	14988221				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Carcinogenesis. 2004 Jul;25(7):1211-8	Epoxide hydrolase polymorphisms, cigarette smoking, and risk of colorectal adenoma in the Nurses' Health Study and the Health Professionals Follow-Up Study		132810	10318	2	2004	Our results indicate that individuals exposed to >/=25 pack-years smoking were at increased risk for colorectal adenoma and that risk is related to dose of tobacco carcinogens and mEH activity level, but the results were not consistent between men and women.	Case:376 prevalent colorectal adenoma cases from the Health Professionals Follow-Up Study;Case:556 incident colorectal adenoma cases from the Nurses' Health Study;Control:557 controls from the Nurses' Health Study;Control:725 controls from the Health Professionals Follow-Up:Study										
122159	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	1	1q42.1	EPHX1	224064453	224099884		Korhonen, S.  et al. 2003	12798882				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Fertility and sterility. 2003 Jun;79(6):1353-7	Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are associated with polycystic ovary syndrome.		132810	10313	2	2003	The use of two intragenic single nucleotide polymorphisms jointly in haplotype analysis of association demonstrated that the genetically determined low activity haplotype C-G (His113-Arg139) was significantly associated with PCOS.	Case:112 Caucasian women with polycystic ovary syndrome;Control:115 healthy controls										
122160		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Gsur, A.  et al. 2003	12915882				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			British journal of cancer. 2003 Aug;89(4):702-6	Association of microsomal epoxide hydrolase polymorphisms and lung cancer risk		132810	10314	2	2003	Our results support the hypothesis that genetically reduced mEH activity may be protective against lung cancer.	Case:277 newly diagnosed lung cancer patients;Control:496 control subjects										
122161		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Cajas-Salazar, N.  et al. 2003	12935919				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer genetics and cytogenetics. 2003 Sep;145(2):97-102	Effect of epoxide hydrolase polymorphisms on chromosome aberrations and risk for lung cancer		132810	10315	2	2003	In conclusion, the CA data provides evidence to support that susceptibility mEH alleles are significantly involved with the development of lung cancer from cigarette smoking.	Case:110 lung cancer patients;Control:119 matched controls										
122156		sister-chromatid exchanges	UNKNOWN	UNK	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Lei, Y.  et al. 2002	12160895				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Mutation research. 2002 Aug;519(2-Jan):93-101	Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers.		132810	10308	2	2002	Our results support previous epidemiological studies that XRCC1 may play a role in cigarette smoking-induced lung cancer.	Cohort 61 workers without significant exposure to mutagens were recruited. Questionnaires were completed to obtain detailed occupational, smoking, and medical histories. SCE frequency in periphe 	smoking (tobacco)									
122157	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q42.1	EPHX1	224064453	224099884		Laasanen, J.  et al. 2002	12173035				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			European journal of human genetics. 2002 Sep;10(9):569-73	Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia.		132810	10309	2	2002	The use of two intragenic SNPs jointly in haplotype analysis of association demonstrated that the genetically determined high-activity haplotype T-A (Tyr113-His139) was significantly associated with preeclampsia.	Control:115 healthy control pregnant women;Case:133 preeclamptic pregnant women										
122158		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	1	1q42.1	EPHX1	224064453	224099884		Rodriguez, F.  et al. 2002	12234472	tyr113his, his139arg			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Analytical biochemistry. 2002 Sep;308(1):120-6	Detection of polymorphisms at exons 3 (Tyr113-->His) and 4 (His139-->Arg) of the microsomal epoxide hydrolase gene using fluorescence PCR method combined with melting curves analysis.		132810	10310	2	2002	The proportion of individuals who were homozygous mutant for exon 3 was significantly higher in the COPD group than in the control group (p=0.004). LightCycler fluorescence genotyping of exon 4 polymorphisms correlated perfectly with SSCP results. RFLP assay classified 2 patients as homozygous mutant while LightCycler analysis genotyped them as heterozygous. DNA analysis by PCR and sequencing confirmed the LightCycler result. These high-speed (about 40 min for 32 samples), highly sensitive, and specific small-volume assays with low labor requirements hold great promise as tools for rapid detection of COPD susceptibility.	Control:146 healthy controls;Case:79 chronic obstructive pulmonary disease patients										
122153	N	chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Zhang, R.  et al. 2002	11940289				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Chinese		CDC GDPinfo	2052	Hs.89649			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Jan;41(1):4-Nov	[Microsomal epoxide hydrolase gene polymorphism and susceptibility to chronic obstructive pulmonary disease in Han nationality of North China]		132810	10305	2	2002	 Genetic polymorphism in mEH is not associated with development of COPD in Han nationality of North China.	Control:52 healthy Han Chinese smoking control subjects;Case:55 Han Chinese patients with chronic obstructive pulmonary disease North China										
122154		cirrhosis; hepatocellular carcinoma; hepatitis	UNKNOWN	UNK	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Sonzogni, L.  et al. 2002	12085365				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Hepatology (Baltimore, Md). 2002 Jul;36(1):195-201	Polymorphisms of microsomal epoxide hydrolase gene and severity of HCV-related liver disease.		132810	10306	2	2002	In conclusion, mEH gene polymorphisms were significantly associated with HCV-related liver disease severity and HCC risk. Men were at higher risk than women; this might be explained by hormonal regulation of gene expression or by differential exposure to environmental toxins.	Case:394 patients at different stages of disease, including 92 asymptomatic carriers, 109 patients with chronic hepatitis, 100 patients with cirrhosis, and 93 patients with HCC;Control:99 healthy blood donors	hepatitis C									
122155	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Lee, W. J.  et al. 2002	12141066				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Biomarkers. 2002 May-Jun;7(3):230-41	Microsomal epoxide hydrolase polymorphisms and lung cancer risk: a quantitative review		132810	10307	2	2002	In conclusion, this study suggests a possible effect of mEH polymorphisms at exon 3 in modulating lung cancer. If present, this effect may vary among different populations, possibly because of interaction with genetic or environmental factors.	Control:1633 controls from 8 studies for pooled analysis;Case:2078 lung cancer cases from 7 published studies for:meta-analysis;Control:3081 controls from 7 published studies for meta-analysis;Case:986 lung cancer cases from 8 studies for pooled:analysis										
122150		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		To-Figueras, J.  et al. 2001	11597790				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer letters. 2001 Nov;173(2):155-62	Lung cancer susceptibility in relation to combined polymorphisms of microsomal epoxide hydrolase and glutathione S-transferase P1.		132810	10302	2	2001	Our results agree with these observations in vitro and suggest that a genetically determined combination of a high-activity mEH and a low-activity GSTpi may increase lung cancer risk among smokers.	Case:176 Northwestern Mediterranean Caucasian lung cancer:patients;Control:187 Northwestern Mediterranean Caucasian healthy:smokers										
122151	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Zhao, H.  et al. 2002	11813302				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	non-Hispanic		CDC GDPinfo	2052	Hs.89649			Molecular carcinogenesis. 2002 Feb;33(2):99-104	Microsomal epoxide hydrolase polymorphisms and lung cancer risk in non-Hispanic whites.		132810	10303	2	2002	These findings suggest that these variant alleles of exon 3 and exon 4 of mEPHX modulates lung cancer risk.	Control:163 controls matched for age, sex, ethnicity, and smoking history;Case:181 non-Hispanic Caucasian lung cancer cases										
122152		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Chromosome Aberrations|Acute Disease|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Lebailly, P.  et al. 2002	11849215				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			British journal of haematology. 2002 Mar;116(3):587-94	Genetic polymorphisms in microsomal epoxide hydrolase and susceptibility to adult acute myeloid leukaemia with defined cytogenetic abnormalities.		132810	10304	2	2002	This suggests that AML cases with defined chromosomal abnormalities could be related to specific carcinogen exposures and, furthermore, suggests that smoking and genetic polymorphisms in HYL1 could be risk factors for AML with [minus sign]7/del(7q) or t(8;21).	Control:155 age-, sex- and residence-matched controls;Case:93 cases of acute myeloid leukemia (26 cases with [minus sign]7/del(7q) and 24 cases with t(8;21), as well as 43 cases with normal karyotype)	smoking (tobacco)									
122147	N	hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Tiemersma, E. W.  et al. 2001	11440964				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2001 Jul;10(7):785-91	Role of genetic polymorphism of glutathione-S-transferase T1 and microsomal epoxide hydrolase in aflatoxin-associated hepatocellular carcinoma.		132810	10297	2	2001	In conclusion, these epidemiological findings do not suggest significant roles of GSTT1 and EPHX in aflatoxin metabolism, although EPHX polymorphism is possibly related to the increased risk of HCC. Further studies are needed to investigate mechanisms by which the EPHX polymorphism potentially modifies cancer risk.	Case:112 incident cases of hepatocellular carcinoma:Sudan;Control:194	aflatoxin									
122148	Y	infant birthweight	REPRODUCTION	REP	Birth Weight	1	1q42.1	EPHX1	224064453	224099884		Wu, D.  et al. 2001	11480169				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Yi chuan xue bao. 2001 ;28(7):595-600	[Analysis of association between gene polymorphisms of microsomal epoxide hydrolase (EPHX1) and infant birthweight]		132810	10299	2	2001	Our data provide polymorphisms of EPHX1 in mothers were significant association with birthweight of their infant, and showed gene-environmental interaction in relation to birthweight.	Cohort 342 female workers were collected in textile mill 	smoking (tobacco) stress									
122149	N	colorectal polyps	CANCER	CAN	Colonic Polyps	1	1q42.1	EPHX1	224064453	224099884		Ulrich, C. M.  et al. 2001	11489754	tyr113his			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Cancer epidemiology, biomarkers & prevention. 2001 Aug;10(8):875-82	Epoxide hydrolase tyr113his polymorphism is associated with elevated risk of colorectal polyps in the presence of smoking and high meat intake		132810	10300	2	2001	Although mEH polymorphisms are not associated with an increased risk of colorectal polyps overall, genotypes that produce a slow phenotype appear to be associated with an increased risk in the presence of smoking and high intakes of cooked meat.	Case:202 cases with colonoscopially confirmed hyperplastic:polyps;Case:530 cases with colonoscopically confirmed adenomas;Control:649 polyp-free at colonoscopy	meat consumption smoking (tobacco)									
122144		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Spurdle, A. B.  et al. 2001	11255266	Tyr113His			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Molecular carcinogenesis. 2001 Jan;30(1):71-8	The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovariancancer.		132810	10294	2	2001	The results suggest that the proposed EPHX-mediated bioactivation of components of cigarette smoke to mutagenic forms is unlikely to be involved in the etiology of ovarian cancer in general but that a greater rate of EPHX-mediated detoxification may decrease the risk of endometrioid ovarian cancer	Control:287 unaffected individuals of European descent, taken from the Australian twin registry, matched by age:Australia:1985 - 1996;Case:545 patients of European descent with epithelial ovarian cancer:Australia, multicenter:1985 - 1996	smoking (tobacco)									
122145	Y	preeclampsia	REPRODUCTION	REP	HELLP Syndrome|Pre-Eclampsia	1	1q42.1	EPHX1	224064453	224099884		Zusterzeel, P. L.  et al. 2001	11283205				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Journal of medical genetics. 2001 Apr;38(4):234-7	A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia.		132810	10295	2	2001	 Women with the high activity genotype in exon 3, which could reflect differences in metabolic activation of endogenous or exogenous toxic compounds, may have enhanced susceptibility to pre-eclampsia. However, polymorphisms in the epoxide hydrolase gene do not seem to influence the risk for concurrent development of the HELLP syndrome.	Control:151 healthy female controls;Case:183 non-pregnant women with a history of pre-eclampsia										
122146	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Wu(5), X.  et al. 2001	11375900				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Mexican, African American	United States	CDC GDPinfo	2052	Hs.89649			Carcinogenesis. 2001 Jun;22(6):923-8	The association of microsomal epoxide hydrolase polymorphisms and lung cancer risk in African-Americans and Mexican-Americans.		132810	10296	2	2001	These findings suggest that the presence of the exon 4 and exon 3 polymorphisms of mEPHX may be associated with an increased risk of lung cancer particularly among younger Mexican-Americans in this study.	Case:138 lung cancer cases (60 Mexican-American and 78:African-American);Control:148 controls (76 Mexican-American and 72:African-American)										
122141	Y	COPD	OTHER	OTH	Lung Diseases, Obstructive|Disease Susceptibility	1	1q42.1	EPHX1	224064453	224099884	P<0.01	Smith CAD 1997	9288046	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	U.K.		KGB	2052	Hs.89649			Lancet. 1997 Aug;350(9078):630-3			132810	2374	1	1997												
122142	N	Emphysema	OTHER	OTH	Disease Susceptibility|Emphysema	1	1q42.1	EPHX1	224064453	224099884	n	Takeyabu K 2000	10853854	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Japan	KGB	2052	Hs.89649			The European respiratory journal. 2000 May;15(5):891-4			132810	2375	1	2000												
122143	Y	COPD severity	OTHER	OTH	Lung Neoplasms|Lung Diseases, Obstructive	1	1q42.1	EPHX1	224064453	224099884	P=<0.05	Yoshikawa M 2000	10601573	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Japanese	Japan	KGB	2052	Hs.89649			International journal of molecular medicine. 2000 Jan;5(1):49-53			132810	2376	1	2000												
122137			OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884		Przybyla-Zawislak BD 2003	12869654				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			Molecular pharmacology. 2003 Aug;64(2):482-90	Polymorphisms in human soluble epoxide hydrolase.		132810	2370	1	2003												
122139	Y	COPD	OTHER	OTH	Lung Diseases, Obstructive|Disease Susceptibility	1	1q42.1	EPHX1	224064453	224099884	P<0.01	Smith CAD 1997	9288046	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			Lancet. 1997 Aug;350(9078):630-3			132810	2372	1	1997												
122140	N	Emphysema	OTHER	OTH	Disease Susceptibility|Emphysema	1	1q42.1	EPHX1	224064453	224099884	n	Takeyabu K 2000	10853854	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Japanese	Japan	KGB	2052	Hs.89649			The European respiratory journal. 2000 May;15(5):891-4			132810	2373	1	2000												
122134		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Spurdle AB et al. 2001	11255266	Tyr113His			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			Molecular carcinogenesis. 2001 Jan;30(1):71-8	The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer.		132810	2367	1	2001	The results suggest that the proposed EPHX-mediated bioactivation of components of cigarette smoke to mutagenic forms is unlikely to be involved in the etiology of ovarian cancer in general but that a greater rate of EPHX-mediated detoxification may decrease the risk of endometrioid ovarian cancer	Control:287 unaffected individuals of European descent, taken from the Australian twin registry, matched by age:Australia:1985 - 1996;Case:545 patients of European descent with epithelial ovarian cancer:Australia, multicenter:1985 - 1996	smoking (tobacco)									
122135		esophageal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Wang LD 2003	12854128				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	north Chinese	China	KGB	2052	Hs.89649			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China.		132810	2368	1	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
122136		microsomal epoxide hydrolase	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		de Jong DJ et al. 2003	12631667				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomal epoxide hydrolase.		132810	2369	1	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
122131	Y	preeclampsia.	REPRODUCTION	REP	Pre-Eclampsia	1	1q42.1	EPHX1	224064453	224099884		Laasanen J et al. 2002	12173035				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			European journal of human genetics. 2002 Sep;10(9):569-73	Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia.		132810	2364	1	2002	The use of two intragenic SNPs jointly in haplotype analysis of association demonstrated that the genetically determined high-activity haplotype T-A (Tyr113-His139) was significantly associated with preeclampsia.	Control:115 healthy control pregnant women;Case:133 preeclamptic pregnant women										
122132	Y	colorectal polyps (adenoma or hyperplastic)	CANCER	CAN	Colonic Polyps	1	1q42.1	EPHX1	224064453	224099884		Ulrich CM et al. CEBP 2001;10:875-882	11489754	Tyr113His and His139Arg	Tyr113His --> reduced act. His139Arg poss. increased activity	coding sequence	Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	case-control study (colonoscopy-screened, clinic-based)		KGB	2052	Hs.89649	colorectal polyps		Cancer epidemiology, biomarkers & prevention. 2001 Aug;10(8):875-82	Epoxide hydrolase Tyr113His polymorphism is associated with elevated risk of colorectal polyps in the presence of smoking and high meat intake.		132810	2365	1	2001	Although mEH polymorphisms are not associated with an increased risk of colorectal polyps overall, genotypes that produce a slow phenotype appear to be associated with an increased risk in the presence of smoking and high intakes of cooked meat.	Case:202 cases with colonoscopially confirmed hyperplastic:polyps;Case:530 cases with colonoscopically confirmed adenomas;Control:649 polyp-free at colonoscopy	meat consumption smoking (tobacco)									
122133	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Wu X et al. 2001	11375900				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		United States	KGB	2052	Hs.89649			Carcinogenesis. 2001 Jun;22(6):923-8	The association of microsomal epoxide hydrolase polymorphisms and lung cancer risk in African-Americans and Mexican-Americans.		132810	2366	1	2001	These findings suggest that the presence of the exon 4 and exon 3 polymorphisms of mEPHX may be associated with an increased risk of lung cancer particularly among younger Mexican-Americans in this study.	Case:138 lung cancer cases (60 Mexican-American and 78:African-American);Control:148 controls (76 Mexican-American and 72:African-American)										
122128	Y	ovalostomatocytosis	OTHER	OTH	Anemia, Hemolytic, Congenital	15	15q15-q21	EPB42	41276719	41300773		Kanzaki A et al. 1995	8547605				Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1			KGB	2038	Hs.368642			International journal of hematology. 1995 Jun;61(4):165-78	Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2 hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network.		177070	2362	1	1995												
122129	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p36.1-p35	EPHB2	22909917	23114410		Kittles, R. A.  et al. 2005	16155194				EPH receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017449	African American		CDC GDPinfo	2048	Hs.523329			Journal of medical genetics. 2005	A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.		600997	16509	2	2005	 Our data show that the K1019X mutation in the EphB2 gene differs in frequency between AA and EA, is associated with increased risk for PC in AA men with a positive family history, and may be an important genetic risk factor for prostate cancer in AA.											
122130	Y	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome	1	1q42.1	EPHX1	224064453	224099884		Korhonen S et al. 2003	12798882				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			KGB	2052	Hs.89649			Fertility and sterility. 2003 Jun;79(6):1353-7	Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are associated with polycystic ovary syndrome.		132810	2363	1	2003	The use of two intragenic single nucleotide polymorphisms jointly in haplotype analysis of association demonstrated that the genetically determined low activity haplotype C-G (His113-Arg139) was significantly associated with PCOS.	Case:112 Caucasian women with polycystic ovary syndrome;Control:115 healthy controls										
122124	Y	erythrocyte band 4.2 deficiency.	OTHER	OTH	Anemia	15	15q15-q21	EPB42	41276719	41300773		Iwamoto S et al. 1993	8319790				Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1			KGB	2038	Hs.368642			European journal of haematology. 1993 May;50(5):286-91	Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.		177070	2358	1	1993												
122125	Y	hereditary haemolytic anaemia.	OTHER	OTH	Anemia, Hemolytic	15	15q15-q21	EPB42	41276719	41300773		Hayette S et al. 1995	7772513				Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1			KGB	2038	Hs.368642			British journal of haematology. 1995 Apr;89(4):762-70	A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.		177070	2359	1	1995												
122126	Y	hereditary spherocytosis (protein 4.2Notame).	OTHER	OTH	Spherocytosis, Hereditary	15	15q15-q21	EPB42	41276719	41300773		Matsuda M et al. 1995	8528207			splice variant	Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1		Japan	KGB	2038	Hs.368642			Human molecular genetics. 1995 Jul;4(7):1187-91	A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame).		177070	2360	1	1995												
122127	Y	hereditary hemolytic anemia	OTHER	OTH	Anemia, Hemolytic	15	15q15-q21	EPB42	41276719	41300773		Bouhassira EE et al. 1992	1558976				Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1	Japanese	Japan	KGB	2038	Hs.368642			Blood. 1992 Apr;79(7):1846-54	An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON).		177070	2361	1	1992												
122120	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Meyre, D.  et al. 2005	16025115				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Nature genetics. 2005 Aug;37(8):863-7	Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.		173335	16506	2	2005												
122121		erythropoietin	OTHER	OTH	Retinal Neovascularization|Retinopathy of Prematurity|Disease Models, Animal|Hyperoxia	2	2p21-p16	EPAS1	46378066	46467340		Morita M et al. 2003	12606578				endothelial PAS domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001430.3			KGB	2034	Hs.468410			The EMBO journal. 2003 Mar;22(5):1134-46	HLF/HIF-2alpha is a key factor in retinopathy of prematurity in association with erythropoietin.		603349	2356	1	2003												
122122	Y	elite endurance	NORMALVARIATION	NV		2	2p21-p16	EPAS1	46378066	46467340		Henderson, J.  et al. 2005	16208515				Endothelial PAS domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001430.3			CDC GDPinfo	2034	Hs.468410			Human genetics. 2005 Dec;118(4-Mar):416-23	The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes.		603349	16508	2	2005												
122117		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Saarela, T.  et al. 2005	16272817	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Gynecologic and obstetric investigation. 2005 Nov;61(3):124-127	Plasma Cell Membrane Glycoprotein-1 K121Q Polymorphism in Preeclampsia.		173335	10293	2	2005												
122118		bone density	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Tahara, M.  et al. 2005	15834329				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Spine. 2005 Apr;30(8):877-80; discussion 881	The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms.		173335	12166	2	2005	 The present results suggest that the IVS20-11delT variant of the NPPS gene and the A861G variant of the leptin receptor gene are associated with more extensive OPLL, but not with the frequency with which it occurs.	Case:172 ossification of posterior longitudinal ligament of the spine patients;Control:93 non-ossification of posterior longitudinal ligament of the spine controls										
122119	Y	nephropathy in other diseases	RENAL	REN	Albuminuria|Diabetes Mellitus, Type 2	6	6q22-q23	ENPP1	132170852	132254043		De Cosmo, S.  et al. 2003	14514598				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Diabetes care. 2003 Oct;26(10):2898-902	PC-1 amino acid variant Q121 is associated with a lower glomerular filtration rate in type 2 diabetic patients with abnormal albumin excretion rates.		173335	16505	2	2003	 Among patients with type 2 diabetes with abnormal AER, those carrying the Q PC-1 genotype have more severe DN but not a faster GFR decline than KK patients, thus suggesting faster DN development since diabetes diagnosis in XQ patients.	Cohort 125 patients with type 2 diabetes and abnormal albumin excretion rate 										
122114	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Diabetes Mellitus, Type 2|Insulin Resistance	6	6q22-q23	ENPP1	132170852	132254043		Bacci, S.  et al. 2005	16186408	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Diabetes. 2005 Oct;54(10):3021-5	The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction.		173335	10290	2	2005			smoking (tobacco)									
122115	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Suk, E. K.  et al. 2005	16207325				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Chuvasha		CDC GDPinfo	5167	Hs.527295			Arthritis research & therapy. 2005 ;7(5):R1082-90	Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.		173335	10291	2	2005												
122116		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Obesity, Morbid	6	6q22-q23	ENPP1	132170852	132254043		Matsuoka, N.  et al. 2005	16231022	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	African American, Caucasian		CDC GDPinfo	5167	Hs.527295			International journal of obesity (2005). 2006 Feb;30(2):233-7	Association of K121Q polymorphism in ENPP1 (PC-1) with BMI in Caucasian and African-American adults.		173335	10292	2	2005												
122111	N	insulin	METABOLIC	MET	Insulin Resistance|Body Weight	6	6q22-q23	ENPP1	132170852	132254043		Morrison, J. A.  et al. 2004	15045693				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Metabolism:  clinical and experimental. 2004 Apr;53(4):465-8	Population-specific alleles: The polymorphism(k121q) of the human glycoprotein PC-1 gene is strongly associated with race but not with insulin resistance in black and white children		173335	10287	2	2004	The K121Q polymorphism was not associated with insulin, glucose, or HOMA IR measures in black or white children. However, the QQ genotype was population-specific, encompassing most black children versus 1% to 3% of white children. As such, K121Q genotyping should be useful in epidemiology, population genetics, and forensic anthropology.	Cohort 301 hospital based sample (137 blacks and 164 whites) Cohort 639 school based sample (344 blacks and 295 whites) 										
122112		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Heinonen, S.  et al. 2004	15374726	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Fertility and sterility. 2004 Sep;82(3):743-5	The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome.		173335	10288	2	2004	This suggests that impaired insulin signaling is of etiologic importance in PCOS.											
122113	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Abate, N.  et al. 2005	15793263	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1		Texas|India	CDC GDPinfo	5167	Hs.527295			Diabetes. 2005 Apr;54(4):1207-13	ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes.		173335	10289	2	2005	Although further replication studies are necessary to test the validity of the described genotype-phenotype relationship, our study supports the hypothesis that ENPP1 121Q predicts genetic susceptibility to type 2 diabetes in both South Asians and Caucasians.	Cohort 1,083 migrant South Asians living in Dallas, Texas (121 with type 2 diabetes) Dallas, Texas Cohort 679 nonmigrant South Asians living in Chennai, India (223 with type 2 diabetes) Chennai, India Cohort 858 nonmigrant Caucasians living in Dallas, Texas (141 with type 2 diabetes) Dallas, Texas 										
122108	Y	insulin; lipoprotein; lipids	METABOLIC	MET	Insulin Resistance|Hyperlipidemias	6	6q22-q23	ENPP1	132170852	132254043		Kubaszek, A.  et al. 2003	12547881	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Finnish	Finland	CDC GDPinfo	5167	Hs.527295			Diabetes care. 2003 Feb;26(2):464-7	The K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with dyslipidemia		173335	10284	2	2003	 In healthy normoglycemic Finnish subjects, the K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with impaired insulin secretion or dyslipidemia.	Cohort 110/295 normoglycemic subjects (n=110) and a separate sample of normoglycemic subjects (n=295) who underwent first-phase insulin secretion determination Finland 										
122109	N	cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; insulin; obesity; leptin	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Gonzalez-Sanchez, J. L.  et al. 2003	12740448	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Spanish	Spain	CDC GDPinfo	5167	Hs.527295			Obesity research. 2003 May;11(5):603-5	K121Q PC-1 gene polymorphism is not associated with insulin resistance in a Spanish population.		173335	10285	2	2003	The results showed that the K121Q PC-1 polymorphism in the Spanish population has no significant impact on insulin sensitivity.	Cohort 293 Spanish nonrelated adults (44.7% men and 55.3% women) ages 35 to 64 years randomly chosen from a nationwide population-based survey on obesity and related conditions, including insulin resistance and cardiovascular risk factors 										
122110	Y	diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Hamaguchi, K.  et al. 2004	15001634	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1		Dominican Republic	CDC GDPinfo	5167	Hs.527295			The Journal of clinical endocrinology and metabolism. 2004 Mar;89(3):1359-64	The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes.		173335	10286	2	2004	These results indicate that the PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic, contributing to both insulin resistance and type 2 diabetes.	Cohort 775 subjects representing the Dominican Republic population Dominican Republic 										
122105		ossification of the posterior longitudinal ligament	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6q22-q23	ENPP1	132170852	132254043		Koshizuka, Y.  et al. 2002	11771660				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Journal of bone and mineral research. 2002 Jan;17(1):138-44	Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine.		173335	10281	2	2002	We conclude that  the IVS15-14T --> C substitution in the human NPPS gene is associated not only with susceptibility to, but also with severity of OPLL.	Case:180 Ossification of the posterior longitudinal ligament:patients;Control:265 non-ossification of the posterior longitudinal ligament controls										
122106	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic|Proteinuria|Diabetes Mellitus, Type 1|Disease Progression	6	6q22-q23	ENPP1	132170852	132254043		Canani, L. H.  et al. 2002	11916943				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1		Boston	CDC GDPinfo	5167	Hs.527295			Diabetes. 2002 Apr;51(4):1188-93	Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes.		173335	10282	2	2002	We conclude that  carriers of the Q variant of ENPP1 are at increased risk for developing ESRD early in the course of type 1 diabetes.	Control:307 diabetic patients with normal urinary albumin:excretion;Case:352 patients with advanced diabetic nephropathy (200 had persistent proteinuria and 152 had end-stage renal disease)										
122107		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Endler, G.  et al. 2002	12483464	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDPinfo	5167	Hs.527295			Journal of molecular medicine (Berlin, Germany). 2002 Dec;80(12):791-5	The K121Q polymorphism in the plasma cell membrane glycoprotein 1 gene predisposes to early myocardial infarction.		173335	10283	2	2002	Our data indicate that the PC-1 121Q allele might predispose independently of other well established risk factors for early myocardial infarction. Testing for the PC-1 K121Q polymorphism might be valuable in patients with a family history of atherosclerotic vascular disease and myocardial infarction.	Cohort two independent series of cardiovascular patients at a defined endpoint of atherosclerotic vascular disease 										
122102	Y	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Birth Weight	6	6q22-q23	ENPP1	132170852	132254043		Kubaszek A 2004	15126519	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1				Y Wang	5167	Hs.527295			The Journal of clinical endocrinology and metabolism. 2004 May;89(5):2044-7	The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth.		173335	4921	1	2004	We conclude that  the interaction between the K121Q polymorphism of the PC-1 gene and birth length affects insulin sensitivity and increases susceptibility to type 2 diabetes and hypertension in adulthood.											
122103	Y	ossification of the posterior longitudinal ligament of the spine (OPLL)	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6q22-q23	ENPP1	132170852	132254043		Nakamura I et al. 1999	10453738				ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			KGB	5167	Hs.527295			Human genetics. 1999 Jun;104(6):492-7	Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).		173335	4922	1	1999												
122104	Y	cholesterol; diabetes, type 2; insulin; glucose; insulin resistance; PC-1 protein content; systolic blood pressure	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	6	6q22-q23	ENPP1	132170852	132254043		Frittitta, L.  et al. 2001	11473061				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1		Italy	CDC GDPinfo	5167	Hs.527295			Diabetes. 2001 Aug;50(8):1952-5	A cluster of three single nucleotide polymorphisms in the 3'-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities		173335	10280	2	2001	In conclusion, we have identified a possible molecular mechanism for PC-1 overexpression that confers an increased risk for insulin resistance-related abnormalities.	Case type 2 diabetic patients:Gargano, Italy;Control healthy controls:Cohort individuals from Sicily, Italy:Sicily, Italy										
122099		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Epistaxis|Arteriovenous Malformations|Telangiectasia, Hereditary Hemorrhagic	9	9q33-q34.1	ENG	129617115	129656805		Berg, J.  et al. 2003	12920067				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			CDC GDPinfo	2022	Hs.76753			Journal of medical genetics. 2003 Aug;40(8):585-90	Hereditary haemorrhagic telangiectasia: aquestionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.		131195	21218	2	2003	 Our questionnaire based study provides evidence that the HHT phenotype caused by mutations in endoglin (HHT1) is distinct from, and more severe than, HHT caused by mutations in ALK1 (HHT2). This has significant implications for diagnosis, screening, and treatment in the two different forms of HHT, as well as for understanding the pathogenesis of the disease.	Cohort 83 subjects affected with hereditary hemorrhagic telangiectasia 										
122100	Y	ossification of the posterior longitudinal ligament of the spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6q22-q23	ENPP1	132170852	132254043		Koshizuka Y et al. 2002	11771660				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			KGB	5167	Hs.527295			Journal of bone and mineral research. 2002 Jan;17(1):138-44	Nucleotide pyrophosphatase gene polymorphism associated with ossification of the posterior longitudinal ligament of the spine.		173335	4919	1	2002	We conclude that  the IVS15-14T --> C substitution in the human NPPS gene is associated not only with susceptibility to, but also with severity of OPLL.	Case:180 Ossification of the posterior longitudinal ligament:patients;Control:265 non-ossification of the posterior longitudinal ligament controls										
122101	Y	diabetes, type 2	METABOLIC	MET	Insulin Resistance|Obesity, Morbid	6	6q22-q23	ENPP1	132170852	132254043		Baratta R 2003	14574455			3'untranslated	Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			Alex Wang	5167	Hs.527295	Overall, a significant interaction between the two genes was observed on body mass index, insulin levels (both fasting and after OGTT) and both insulin sensitivity (i.e., insulin sensitivity index and M value) and insulin secretion (i.e., HOMA-B%) indexes		Journal of molecular medicine (Berlin, Germany). 2003 Nov;81(11):718-23	Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) and PPARgamma2 (P12A) polymorphisms.		173335	4920	1	2003												
122095	N	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	9	9q33-q34.1	ENG	129617115	129656805		Pera, J.  et al. 2005	15926713				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	Polish	Poland	CDC GDPinfo	2022	Hs.76753			Journal of neurosurgery. 2005 May;102(5):879-81	Endoglin gene insertion polymorphism not associated with aneurysmal subarachnoid hemorrhage.		131195	10278	2	2005	 The authors failed to find an association between the intronic insertion polymorphism of the ENG gene and aneurysmal SAH in a Polish population.	Case:119 patients with aneurysmal subarachnoid hemorrhage:Poland;Control:119 sex-matched healthy volunteers										
122097		hereditary hemorrhagic telangiectasia	OTHER	OTH	Telangiectasia, Hereditary Hemorrhagic|Genetic Predisposition to Disease	9	9q33-q34.1	ENG	129617115	129656805		Dakeishi, M.  et al. 2002	11793473				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	Japanese	Japan	CDC GDPinfo	2022	Hs.76753			Human mutation. 2002 Feb;19(2):140-8	Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.		131195	16504	2	2002	We recommend that families with HHT be screened for gene mutations in order that high-risk individuals receive early diagnosis and treatment initiation that will substantially alter their clinical course and prognosis.	Cohort 137 pedigree members from 9 HHT probands 										
122098		cerebral arteriopathy	CARDIOVASCULAR	CARD	Arteriovenous Malformations	9	9q33-q34.1	ENG	129617115	129656805		Pawlikowska, L.  et al. 2005	16179574				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			CDC GDPinfo	2022	Hs.76753			Stroke; a journal of cerebral circulation. 2005 Oct;36(10):2278-80	Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.		131195	21217	2	2005	 A common polymorphism in ALK1 is associated with sporadic BAVM, suggesting that genetic variation in genes mutated in familial BAVM syndromes may play a role in sporadic BAVMs.											
122091	N	stroke	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	9	9q33-q34.1	ENG	129617115	129656805	n	Krex D et al. 2001	11692035	intron 7 insertion		intron	Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	white	Japan	KGB	2022	Hs.76753			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2689-94	Lack of association between endoglin intron 7 insertion polymorphism and intracranial aneurysms in a white population: evidence of racial/ethnic differences.		131195	2353	1	2001	 The genetic polymorphism in the vicinity of 3' end of exon 7 in the endoglin gene was not significantly associated with the occurrence of intracranial aneurysms in the white population. There are ethnic-related differences of allele frequencies between our white controls and the previously reported Japanese controls.	Case:121 white patients who had been treated for intracranial aneurysms;Control:124 healthy white blood donors;Control:15 Japanese volunteers										
122092		intracranial aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	9	9q33-q34.1	ENG	129617115	129656805		Onda H 2003	12775886				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	Japanese	Japan	KGB	2022	Hs.76753			Stroke; a journal of cerebral circulation. 2003 Jul;34(7):1640-4	Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese.		131195	2354	1	2003	 We provide evidence that there is no association between the 6bINS polymorphism or 4 SNPs in ENG and IA and that there is no linkage between the ENG locus and IA, indicating that ENG is not a major susceptibility gene for IA in Japanese.											
122093		hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Telangiectasia, Hereditary Hemorrhagic	9	9q33-q34.1	ENG	129617115	129656805		Chaouat A 2004	15115879				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			KGB	2022	Hs.76753			Thorax. 2004 May;59(5):446-8	Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.		131195	2355	1	2004												
122087		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	19	19q13.3	EMP3	53520453	53525622		Burmester, J. K.  et al. 2004	15583422				Epithelial membrane protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001425.1			CDC GDPinfo	2014	Hs.9999			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		602335	24332	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
122088		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	2	2q13-q21	EN1	119316216	119322229		Weese-Mayer, D. E.  et al. 2004	15240857				Engrailed homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001426.2			CDC GDPinfo	2019	Hs.271977			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		131290	26850	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
122089	N	autism	PSYCH	PSY	Autistic Disorder	7	7q36	EN2	154943584	154950287	n	Zhong H et al. 2003	12525552				Engrailed homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001427.2			KGB	2020	Hs.134989			Journal of medical genetics. 2003 Jan;40(1):e4	No association between the EN2 gene and autistic disorder.		131310	2351	1	2003												
122084	N	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Massart, F.  et al. 2004	15698546				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDPinfo	2006	Hs.252418			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):413-8	Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm.		130160	16551	2	2004	No difference in ELN, ERalpha, PR and TGFbeta1 allele frequencies was observed in AAA patients versus controls (P>0.05). However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2)=5.220; OR=1.82, P<0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility.	Control:225 healthy Caucasian controls (mean age 71.20+/-6.85:years);Case:99 unrelated Caucasian abdominal aortic aneurysm patients (mean age 69.8+/-7.1 years)										
122086		maculopathy	VISION	VIS	Macular Degeneration	6	6q14	ELOVL4	80681247	80713941		Conley, Y. P.  et al. 2005	15930014				Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022726.2			CDC GDPinfo	6785	Hs.101915			Human molecular genetics. 2005 Jul;14(14):1991-2002	Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.		605512	16503	2	2005	These results support a potential role for multiple pathways in the etiology of ARM, including pathways involved with fatty acid biosynthesis and the complement system.	Control:120 clearly unaffected, unrelated controls;Case:796/196 clearly affected familial cases (n=338 families, 796 individuals), clearly affected, unrelated sporadic cases (n=196)										
122081	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Krex, D.  et al. 2004	15218274				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939		Japan	CDC GDPinfo	2006	Hs.252418			Cerebrovascular diseases (Basel, Switzerland). 2004 ;18(2):104-10	Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences.		130160	10275	2	2004	 We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations. However, our data provide strong evidence for racial/ethnic differences in the association of SNP and specific haplotypes of the elastin gene with the phenotype. There might be other genetic variants of the elastin gene associated with IA in Caucasians.	Case:120 Caucasian patients with intracranial aneurysm;Control:172:controls										
122082	Y	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Ruigrok, Y. M.  et al. 2004	15297630				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939	Dutch	Netherlands	CDC GDPinfo	2006	Hs.252418			Stroke; a journal of cerebral circulation. 2004 Sep;35(9):2064-8	Association of Polymorphisms and Haplotypes in the Elastin Gene in Dutch Patients With Sporadic Aneurysmal Subarachnoid Hemorrhage		130160	10276	2	2004	 Variants and haplotypes within the elastin gene are associated with the risk of sporadic SAH in Dutch patients. Gradual increase of statistical power with the inclusion of 2 or 3 SNPs in the studied haplotypes supports the validity of our conclusion that the elastin gene is a susceptibility locus for SAH.	Control:167 matching controls;Case:167 subarachnoid hemorrhage patients the Netherlands										
122083		Williams syndrome	UNKNOWN	UNK	Williams Syndrome	7	7q11.23	ELN	73080362	73122172		Amenta, S.  et al. 2005	15774842				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939	Greek	Greece	CDC GDPinfo	2006	Hs.252418			Pediatric research. 2005 Jun;57(6):789-95	Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population		130160	16502	2	2005	This is the first report on WS patients in the Greek population.	Cohort 50 Greek children with the clinical diagnosis of Williams syndrome Greece 										
122078	N	stroke	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage|Aneurysm, Ruptured|Rupture, Spontaneous|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172	n	Hofer A et al. 2003	12690215				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939		Japan|Austria|Germany	KGB	2006	Hs.252418			Stroke; a journal of cerebral circulation. 2003 May;34(5):1207-11	Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe.		130160	2350	1	2003	 Our data probably reflect increased genetic heterogeneity of intracranial aneurysm in Europe compared with Japan.	Case:175/30 sporadic brain aneurysm patients (n=175) and familial patients (n=30) Central Europe;Control:235 population controls										
122079	Y	carotid artery distensibility	CARDIOVASCULAR	CARD		7	7q11.23	ELN	73080362	73122172		Hanon, O.  et al. 2001	11711520	Ser422Gly			Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDPinfo	2006	Hs.252418			Hypertension. 2001 Nov;38(5):1185-9	Aging, Carotid Artery Distensibility, and the Ser422Gly Elastin Gene Polymorphism in Humans		130160	10273	2	2001	The preseYt results iYdicate a relatioYship betweeY the Ser422Gly polymorphism aYd the disteYsibility of elastic arteries but Yot of muscular arteries aYd suggest that there is aY age-geYotype iYteractioY for carotid artery disteYsibility.	Cohort 320 subjects (49+/-12 years of age) without evidence of cardiovascular disease and who had never been treated with cardiovascular drugs 										
122080		brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage|Aneurysm, Ruptured|Rupture, Spontaneous|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Hofer, A.  et al. 2003	12690215				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939	Japanese	Japan|Austria|Germany	CDC GDPinfo	2006	Hs.252418			Stroke; a journal of cerebral circulation. 2003 May;34(5):1207-11	Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe.		130160	10274	2	2003	 Our data probably reflect increased genetic heterogeneity of intracranial aneurysm in Europe compared with Japan.	Case:175/30 sporadic brain aneurysm patients (n=175) and familial patients (n=30) Central Europe;Control:235 population controls										
122074		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Figer, A.  et al. 2003	14719475				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		605367	21214	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
122075	N	macular degeneration, age-related	VISION	VIS	Macular Degeneration	1	1p34	ELAVL4	50286375	50439643		Ayyagari, R.  et al. 2001	11803489				ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021952.2			CDC GDPinfo	1996	Hs.213050			Ophthalmic genetics. 2001 Dec;22(4):233-9	Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.		168360	16501	2	2001	No statistically significant association was observed between sequence variants in the ELOVL4 gene and susceptibility to AMD. However, for the detection of modest effects of multiple alleles in a complex disease, the analysis of larger cohorts of patients may be required.	Control:551 age-matched controls;Case:778 patients with age-related macular degeneration										
122076		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11p13-p12	ELF5	34456917	34491906		Baron, R. M.  et al. 2002	12359648				E74-like factor 5 (ets domain transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198381.1		United States	CDC GDPinfo	2001	Hs.11713			American journal of respiratory and critical care medicine. 2002 Oct;166(7):927-32	DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma.		605169	21215	2	2002	This study suggests that epithelium-specific ETS-2 and ETS-3 genes are unlikely to contain polymorphic loci that have a major impact on asthma susceptibility in our population.	Control:177 white subjects without asthma;Case:311 white subjects with asthma										
122071		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Camp, N. J.  et al. 2004	15593091				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Genetic epidemiology. 2005 Apr;28(3):232-43	Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 andfamilial early-onset prostate cancer.		605367	16498	2	2004	Our results suggest that 8 tSNPs are required to comprehensively assess associations in ELAC2, and that haplotypes should be considered for analysis, and that a knowledge of mutation history may be helpful in parsing allelic heterogeneity and suggesting combinations of haplotypes to be tested.	Case prostate cancer cases;Control:controls										
122072	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Maier, C.  et al. 2005	15714208				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	German		CDC GDPinfo	60528	Hs.434232			British journal of cancer. 2005 Mar;92(6):1159-64	Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene.		605367	16499	2	2005	Our results are not consistent with a high penetrance of deleterious RNASEL mutations. Due to the low frequency of germline mutations present in our sample, RNASEL does not have a significant impact on prostate cancer susceptibility in the German population.	Control:207:controls;Case:227 prostate cancer patients										
122073	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Metastasis	17	17p11.2	ELAC2	12836432	12862049		Noonan-Wheeler, F. C.  et al. 2005	16114055				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4		United States	CDC GDPinfo	60528	Hs.434232			The Prostate. 2006 Jan;66(1):49-56	Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.		605367	16500	2	2005	 These results suggest that, in a European-American population, ELAC2 217L and RNASEL 541E are associated with metastatic sporadic disease. ELAC2 and RNASEL SNP analysis may prove useful in determining which patients are at risk for developing clinically significant prostate carcinoma.											
122068	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Camp, N. J.  et al. 2002	12515253				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			American journal of human genetics. 2002 Dec;71(6):1475-8	Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer.		605367	16495	2	2002	In conclusion, our summary analyses indicate convincing evidence for the role of ELAC2 in prostate cancer, suggest moderate familial risk, and estimate that risk genotypes in ELAC2 may cause 2% of prostate cancer in the general population.	Case prostate cancer cases combined from 7 studies;Control controls combined from 7 studies										
122069	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Fujiwara, H.  et al. 2002	12522685				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	CDC GDPinfo	60528	Hs.434232			Journal of human genetics. 2002 ;47(12):641-8	Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series		605367	16496	2	2002	Although the Leu217 and Thr541 variants of ELAC2 are less common in Japanese than in Caucasians, both variants confer significantly increased risk of prostate cancer in Japanese. Carriage of these variants was not associated with age at diagnosis, tumor stage, or tumor grade in these Japanese prostate cancer patients. The allele-specific pattern of risk observed in Japanese and familial Caucasian patients was qualitatively similar; however, the magnitude of that risk was considerably greater in Japanese than in Caucasians.	Control:242/114 male population controls (N=242) and male low-risk:controls (n=114);Case:350 Japanese prostate cancer patients										
122070	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Adler, D.  et al. 2003	14625808				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Journal of human genetics. 2003 ;48(12):634-8	HPC2/ELAC2 gene variants associated with incident prostate cancer		605367	16497	2	2003	In summary, the HPC2 gene variants Leu217 and Thr541 were associated with an increased risk for prostate cancer and for PIN in males undergoing radical prostatectomies in the Calgary region.	Case:199 prostate cancer cases Calgary region;Control:525 healthy male controls										
122064		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Vesprini, D.  et al. 2001	11254449				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			American journal of human genetics. 2001 Apr;68(4):912-7	HPC2 variants and screen-detected prostate cancer.		605367	16491	2	2001	We conclude that  HPC2 genotyping is unlikely to be a useful adjunct to PSA in the prediction of the presence of biopsy-detected prostate cancer in asymptomatic men.	Control:922 healthy women fom the same population;Case:944 prostate biopsy patients										
122066		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Wang, L.  et al. 2001	11522646				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Cancer research. 2001 Sep;61(17):6494-9	Role of HPC2/ELAC2 in hereditary prostate cancer.		605367	16493	2	2001	Cumulatively, these results suggest that alterations within the HPC2/ELAC2 gene play a limited role in genetic susceptibility to HPC.	Case:446 prostate cancer patients from 164 families with hereditary prostate cancer;Control:502 population-based controls										
122067	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Shea, P. R.  et al. 2002	12384782				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4		Trinidad and Tobago	CDC GDPinfo	60528	Hs.434232			Human genetics. 2002 Oct;111(5-Apr):398-400	ELAC2 and prostate cancer risk in Afro-Caribbeans of Tobago.		605367	16494	2	2002	The absence of ELAC2 mutations and lack of association between polymorphisms in ELAC2 and prostate cancer in cases and controls leads us to conclude that ELAC2 does not contribute significantly to the elevated prevalence of prostate cancer in Afro-Caribbean males of Tobago.	Case Afro-Caribbean male prostate cancer cases:Tobago;Control:controls										
122061	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Yokomizo, A.  et al. 2004	15368467				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	CDC GDPinfo	60528	Hs.434232			The Prostate. 2004 Nov;61(3):248-52	HPC2/ELAC2 polymorphism associated with Japanese sporadic prostate cancer		605367	10271	2	2004	 Our results indicate that Thr allele at 541 in HPC2/ELAC2 has strong significance in the predisposition of sporadic Pca in Japan. This polymorphism can be useful to predict the personal Pca risk, which lead the effective screening of Pca.	Control:233 matched controls;Case:285 Japanese prostate cancer patients										
122062	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Rennert, H.  et al. 2005	15824169				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	European American, African American	Philadelphia	CDC GDPinfo	60528	Hs.434232			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):949-57	Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.		605367	10272	2	2005	Therefore, MSR1 and RNASEL may play a role in prostate cancer progression and severity.	Control:473/163 European American (n=473) and African American:(n=163) controls;Case:888/131 European American (n=888) and African American (n=131) prostate cancer cases	family history									
122063	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Xu, J.  et al. 2001	11254448				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			American journal of human genetics. 2001 Apr;68(4):901-11	Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.		605367	16490	2	2001	In association analyses, family-based tests did not reveal excess transmission of the Leu217 and/or Thr541 alleles to affected offspring, and population-based tests failed to reveal any statistically significant difference in the allele frequencies of the two polymorphisms between patients with prostate cancer and control subjects.	Control:222 unaffected males;Case:249 patients with sporadic prostate cancer										
122058	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Severi, G.  et al. 2003	12783937				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Journal of the National Cancer Institute. 2003 Jun;95(11):818-24	ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer.		605367	10268	2	2003	 There is no evidence that either ELAC2 polymorphism is associated with prostate cancer or PSA level.	Control:732 control subjects;Case:825 prostate cancer patients										
122059		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Takahashi, H.  et al. 2003	12949798	Ser217Leu			ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	CDC GDPinfo	60528	Hs.434232			International journal of cancer. Journal international du cancer. 2003 Nov;107(2):224-8	Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men.		605367	10269	2	2003	We concluded that germline/somatic mutations of HPC2/ELAC2 are uncommon in PCa. Similarly, allelic imbalances at the gene locus and changes in expression are rare. Although no difference in allele frequency at Ser217Leu between patients with PCa and controls has been reported in a Western population, this polymorphism is a potential indicator of PCa risk in Japanese men and it should be examined in other ethnic groups.	Cohort 109 patients with hereditary/familial prostate cancer (Pca) including 11 patients from 1 hereditary and 9 familial Pca 										
122060	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Stanford, J. L.  et al. 2003	14504198				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):876-81	Association of HPC2/ELAC2 polymorphisms with risk of prostate cancer in a population-based study.		605367	10270	2	2003	We estimate that the Ser(217)Leu genotype may account for approximately 14% of less aggressive prostate cancer cases and 9% of all sporadic cases in the general United States population of white men	Control:538 controls from the same general population were identified through random-digit dialing;Case:591 middle-aged men with prostate cancer from the Seattle-Puget Sound Surveillance, Epidemiology, and End Results Cancer Registry King County, Washington										
122055	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Suarez, B. K.  et al. 2001	11431329				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Cancer research. 2001 Jul;61(13):4982-4	Polymorphisms in the prostate cancer susceptibility gene HPC2/ELAC2 in multiplex families and healthy controls.		605367	10265	2	2001	A significant increase in the frequency of the T allele is seen in the prostate cancer subjects compared with controls. There is, however, little evidence for excess clustering of the T allele within the multiplex families known to be segregating this allele, and there is no evidence for linkage of prostate cancer to the HPC2/ELAC2 region of chromosome 17p11.2 in these families. The T allele shows no association with either Gleason score or age-of-onset in segregating families.	Case:257 multiplex prostate cancer sibships;Control:355 race-matched healthy unrelated controls										
122056		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Meitz, J. C.  et al. 2002	12373607				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			British journal of cancer. 2002 Oct;87(8):905-8	HPC2/ELAC2 polymorphisms and prostate cancer risk:analysis by age of onset of disease		605367	10266	2	2002	We conclude that  any association between the Thr541 variant and prostate cancer is likely to be weak.	Case:432 prostate cancer patients (including 262 patients:diagnosed:Britain;Control:469 UK, population based control individuals with no family history of cancer										
122057	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Suzuki, K.  et al. 2002	12552947				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	CDC GDPinfo	60528	Hs.434232			Anticancer research. 2002 Nov-Dec;22(6B):3507-11	Association of HPC2/ELAC2 polymorphism with prostate cancer risk in a Japanese population.		605367	10267	2	2002	 The present study suggested that the common variants in the HPC2/ELAC2 gene play a limited role in the risk of prostate cancer in the Japanese population.	Control:106:controls;Case:81 Japanese prostate cancer patients with a family:history										
122052	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Rebbeck TR et al. 2000	10986046				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			KGB	60528	Hs.434232			American journal of human genetics. 2000 Oct;67(4):1014-9	Association of HPC2/ELAC2 genotypes and prostate cancer.		605367	6802	1	2000												
122053	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	17	17p11.2	ELAC2	12836432	12862049		Stanford JL 2003	14504198				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Population-based, King Co., WA		KGB	60528	Hs.434232			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):876-81	Association of HPC2/ELAC2 polymorphisms with risk of prostate cancer in a population-based study.		605367	6803	1	2003	We estimate that the Ser(217)Leu genotype may account for approximately 14% of less aggressive prostate cancer cases and 9% of all sporadic cases in the general United States population of white men	Control:538 controls from the same general population were identified through random-digit dialing;Case:591 middle-aged men with prostate cancer from the Seattle-Puget Sound Surveillance, Epidemiology, and End Results Cancer Registry King County, Washingt										
122054	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Takahashi H 2003	12949798				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	KGB	60528	Hs.434232			International journal of cancer. Journal international du cancer. 2003 Nov;107(2):224-8	Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men.		605367	6804	1	2003	We concluded that germline/somatic mutations of HPC2/ELAC2 are uncommon in PCa. Similarly, allelic imbalances at the gene locus and changes in expression are rare. Although no difference in allele frequency at Ser217Leu between patients with PCa and controls has been reported in a Western population, this polymorphism is a potential indicator of PCa risk in Japanese men and it should be examined in other ethnic groups.	Cohort 109 patients with hereditary/familial prostate cancer (Pca) including 11 patients from 1 hereditary and 9 familial Pca										
122049	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049	n	Suzuki K 2002	12552947	Ser217 and Ala541			ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	KEW	60528	Hs.434232			Anticancer research. 2002 Nov-Dec;22(6B):3507-11	Association of HPC2/ELAC2 polymorphism with prostate cancer risk in a Japanese population.		605367	6799	1	2002	 The present study suggested that the common variants in the HPC2/ELAC2 gene play a limited role in the risk of prostate cancer in the Japanese population.	Control:106:controls;Case:81 Japanese prostate cancer patients with a family:history										
122050	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Fujiwara H et al. 2002	12522685				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4	Japanese	Japan	KGB	60528	Hs.434232			Journal of human genetics. 2002 ;47(12):641-8	Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.		605367	6800	1	2002	Although the Leu217 and Thr541 variants of ELAC2 are less common in Japanese than in Caucasians, both variants confer significantly increased risk of prostate cancer in Japanese. Carriage of these variants was not associated with age at diagnosis, tumor stage, or tumor grade in these Japanese prostate cancer patients. The allele-specific pattern of risk observed in Japanese and familial Caucasian patients was qualitatively similar; however, the magnitude of that risk was considerably greater in Japanese than in Caucasians.	Control:242/114 male population controls (N=242) and male low-risk:controls (n=114);Case:350 Japanese prostate cancer patients										
122051	Y	familial or sporadic prostate cancer.	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17p11.2	ELAC2	12836432	12862049		Xu J et al. 2001	11254448				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			KGB	60528	Hs.434232			American journal of human genetics. 2001 Apr;68(4):901-11	Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.		605367	6801	1	2001	In association analyses, family-based tests did not reveal excess transmission of the Leu217 and/or Thr541 alleles to affected offspring, and population-based tests failed to reveal any statistically significant difference in the allele frequencies of the two polymorphisms between patients with prostate cancer and control subjects.	Control:222 unaffected males;Case:249 patients with sporadic prostate cancer										
122046	Y	lung cancer	CANCER	CAN	Lung Neoplasms	19	19p13.3	ELA2	803290	807246		Taniguchi, K.  et al. 2002	11948122			promoter	Elastase 2, neutrophil	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001972.2			CDC GDPinfo	1991	Hs.99863			Clinical cancer research. 2002 Apr;8(4):1115-20	Polymorphisms in the promoter region of the neutrophil elastase gene are associated with lung cancer development.		130130	10263	2	2002	In conclusion, our findings support an etiological role of NE in lung cancer development.	Control:299:controls;Case:348 primary lung cancer cases										
122047		lung cancer	CANCER	CAN	Lung Neoplasms	19	19p13.3	ELA2	803290	807246		Park, J. Y.  et al. 2005	15892999			promoter	Elastase 2, neutrophil	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001972.2			CDC GDPinfo	1991	Hs.99863			Lung cancer (Amsterdam, Netherlands). 2005 Jun;48(3):315-21	Polymorphisms in the promoter region of neutrophil elastase gene and lung cancer risk.		130130	10264	2	2005	These results confirm that the NE promoter region polymorphisms may influence in risk for lung cancer.	Case:113 Caucasian lung cancer cases;Control:131:controls										
122048		neutropenia	HEMATOLOGICAL	HEM	Neutropenia	19	19p13.3	ELA2	803290	807246		Bellanne-Chantelot, C.  et al. 2004	14962902				Elastase 2, neutrophil	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001972.2		France	CDC GDPinfo	1991	Hs.99863			Blood. 2004 Jun;103(11):4119-25	Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81patients from the French Neutropenia Register.		130130	16489	2	2004	This study underlines the importance of ELA2 molecular screening to identify patients who may be at particular risk of severe bacterial infections and/or acute myeloid leukemia/myelodysplasia. By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms.	Cohort 81 unrelated patients with severe congenital neutropenia (n = 54) or CN (n = 27) 										
122043	Y	hepatitis C	INFECTION	INF	Hepatitis C	2	2p22-p21	EIF2AK2	37187202	37237694		Knapp, S.  et al. 2003	12944978				Eukaryotic translation initiation factor 2-alpha kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002759.1			CDC GDPinfo	5610	Hs.131431			Genes and immunity. 2003 Sep;4(6):411-9	Polymorphisms in interferon-induced genes and the outcome of hepatitis C virus infection: roles ofMxA, OAS-1 and PKR.		176871	10262	2	2003	Polymorphisms in the interferon-induced genes, MxA, OAS-1 and PKR appear thus associated with HCV outcome.	Cohort patients with hepatitis C virus infection 										
122044		hepatitis B	INFECTION	INF	Hepatitis B	2	2p22-p21	EIF2AK2	37187202	37237694		King, J. K.  et al. 2002	12447867				Eukaryotic translation initiation factor 2-alpha kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002759.1			CDC GDPinfo	5610	Hs.131431			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		176871	21213	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
122045		hepatitis B	INFECTION	INF	Hepatitis B	14	14q23.3	EIF2S1	66896786	66922986		King, J. K.  et al. 2002	12447867				Eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004094.4			CDC GDPinfo	1965	Hs.151777			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		603907	24331	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
122040		neuropathy, Charcot-Marie-Tooth	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Takashima, H.  et al. 2001	11545686				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			CDC GDPinfo	1959	Hs.1395			Genetics in medicine. 2001 Sep-Oct;3(5):335-42	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.		129010	18351	2	2001	 DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases.	Cohort 168 patients with Charcot-Marie-Tooth neuropathy 										
122041		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Boerkoel, C. F.  et al. 2002	11835375				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			CDC GDPinfo	1959	Hs.1395			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		129010	21212	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
122042	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11p12	EHF	34599243	34639657		Baron, R. M.  et al. 2002	12359648				Ets homologous factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012153.3		United States	CDC GDPinfo	26298	Hs.502306			American journal of respiratory and critical care medicine. 2002 Oct;166(7):927-32	DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma.		605439	16487	2	2002	This study suggests that epithelium-specific ETS-2 and ETS-3 genes are unlikely to contain polymorphic loci that have a major impact on asthma susceptibility in our population.	Control:177 white subjects without asthma;Case:311 white subjects with asthma										
122037	Y	peripheral demyelinating neuropathies	CARDIOVASCULAR	CARD	Hereditary Central Nervous System Demyelinating Diseases|Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Vandenberghe N et al. 2002	12471219				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			KGB	1959	Hs.1395			Journal of medical genetics. 2002 Dec;39(12):e81	Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.		129010	2348	1	2002	In conclusion, we confirm that EGR2 mutations are not frequent in HMSN and represent <1% of the cases. Their occurrence seems restricted to the more severe phenotypes of DSS and CH but they are also, more rarely, associated with a CMT1 phenotype.	Cohort 101 unrelated probands presenting with peripheral neuropathy and without PMP22, MP2 or GJB1 mutations										
122038	Y	neuropathy	CARDIOVASCULAR	CARD	Hereditary Central Nervous System Demyelinating Diseases|Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Vandenberghe, N.  et al. 2002	12471219				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			CDC GDPinfo	1959	Hs.1395			Journal of medical genetics. 2002 Dec;39(12):e81	Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.		129010	16485	2	2002	In conclusion, we confirm that EGR2 mutations are not frequent in HMSN and represent <1% of the cases. Their occurrence seems restricted to the more severe phenotypes of DSS and CH but they are also, more rarely, associated with a CMT1 phenotype.	Cohort 101 unrelated probands presenting with peripheral neuropathy and without PMP22, MP2 or GJB1 mutations 										
122039	Y	neuropathy	NEUROLOGICAL	NEUR	Scoliosis|Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Mikesova, E.  et al. 2005	16198564				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			CDC GDPinfo	1959	Hs.1395			Neuromuscular disorders. 2005 Nov;15(11):764-7	Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.		129010	16486	2	2005												
122034		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Saito, T.  et al. 2004	15063762				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		Japan	CDC GDPinfo	1956	Hs.488293			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		131550	28141	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
122035		lipid variables	METABOLIC	MET	Myocardial Infarction	5	5q31.1	EGR1	137829079	137832903		Brand E et al. 2000	10794543				Early growth response 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001964.2			KGB	1958	Hs.326035			Journal of molecular medicine (Berlin, Germany). 2000 ;78(2):81-6	Identification of two polymorphisms in the early growth response protein-1 gene: possible association with lipid variables.		128990	2346	1	2000	We conclude that  the C-151T polymorphism of the EGR-1 gene may contribute to modifications of the lipid metabolism. Our findings need to be replicated in independent studies, and in vitro promoter studies should evaluate the functional consequence of the -151T allele, which disrupts a consensus core sequence for the ubiquitous transcription factor activator protein 4.											
122036	Y	Charcot-Marie-Tooth type 1 disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Bellone E et al. 1999	10502832				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			KGB	1959	Hs.1395			Human mutation. 1999 Oct;14(4):353-4	A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.		129010	2347	1	1999												
122031	Y	anaplastic astrocytoma; glioblastoma multiforme	CANCER	CAN	Astrocytoma|Glioblastoma|Brain Neoplasms	7	7p12	EGFR	55054218	55242525		Smith, J. S.  et al. 2001	11504770				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of the National Cancer Institute. 2001 Aug;93(16):1246-56	PTEN mutation, EGFR amplification, and outcome in patients with anaplastic astrocytoma and glioblastoma multiforme.		131550	19135	2	2001	 PTEN mutation and EGFR amplification are important prognostic factors in patients with anaplastic astrocytoma and in older patients with glioblastoma multiforme, respectively.	Cohort 174 patients enrolled in Mayo Clinic Cancer Center and North Central Cancer Treatment Group clinical trials for newly diagnosed gliomas 										
122032		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525			16376942				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese		CDC GDPinfo	1956	Hs.488293			The Journal of surgical research. 2005	Uncommon V599E BRAF Mutations in Japanese Patients with Lung Cancer		131550	21210	2	2005	 V599E BRAF mutation was uncommon in Japanese lung cancer. All three genes mutations were predominantly found in female nonsmoking subjects with adenocarcinomas. However, completely exclusive mutation status would help us to choose custom-made molecular target therapy for the lung cancer.											
122033		urinary calculus	METABOLIC	MET	Urinary Calculi	7	7p12	EGFR	55054218	55242525		Chen, W. C.  et al. 2003	12719950				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Urological research. 2003 Jul;31(3):218-22	Vascular endothelial growth factor gene polymorphism is associated with calcium oxalate stone disease.		131550	21211	2	2003	We conclude that  the VEGF gene Bst U I polymorphism is a suitable genetic marker of urolithiasis.	Case:230 patients with calcium oxalate stone;Control:230 normal controls										
122028		lung cancer	CANCER	CAN	Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525			16353158				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			International journal of cancer Journal international du cancer. 2005	Frequent EGFR mutations in noninvasive bronchioloalveolar carcinoma		131550	16484	2	2005												
122029	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7p12	EGFR	55054218	55242525		Lai, M. T.  et al. 2005	16018936				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		Taiwan	CDC GDPinfo	1956	Hs.488293			Urologic oncology. 2005 Jul-Aug;23(4):225-9	Glutathione S-transferase M1 gene but not insulin-like growth factor-2 gene or epidermal growth factor gene is associated with prostate cancer.		131550	17671	2	2005												
122030		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Eberhard, D. A.  et al. 2005	16043828				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of clinical oncology. 2005 Sep;23(25):5900-9	Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib.		131550	17963	2	2005	 EGFR mutations may be a positive prognostic factor for survival in advanced NSCLC patients treated with chemotherapy with or without erlotinib, and may predict greater likelihood of response. Patients with KRAS-mutant NSCLC showed poorer clinical outcomes when treated with erlotinib and chemotherapy. Further studies are needed to confirm the findings of this retrospective subset analysis.		carboplatin erlotinib paclitaxel									
122025		lung cancer; gefitinib response	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Tomizawa, Y.  et al. 2005	16203769				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Clinical cancer research. 2005 Oct;11(19 Pt 1):6816-22	Clinicopathologic significance of the mutations of the epidermal growth factor receptor gene in patients with non-small cell lung cancer.		131550	16481	2	2005	 These results in Japanese (East Asian) patients indicated that EGFR mutation plays an important role in pathogenesis of lung adenocarcinoma.											
122026		liver cancer; nasopharyngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	7	7p12	EGFR	55054218	55242525			16324836				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Caucasian		CDC GDPinfo	1956	Hs.488293			Eur J Cancer. 2006 Jan;42(1):109-11	Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma		131550	16482	2	2005												
122027		liver cancer; nasopharyngeal cancer	CANCER	CAN	Carcinoma, Hepatocellular|Nasopharyngeal Neoplasms	7	7p12	EGFR	55054218	55242525			16344724				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Pharmacogenetics and genomics. 2006 Jan;16(1):73-4	Lack of somatic mutations in EGFR tyrosine kinase domain in hepatocellular and nasopharyngeal carcinoma		131550	16483	2	2006												
122022		lung cancer; smoking behavior	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Shih, J. Y.  et al. 2005	16152581				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			International journal of cancer. Journal international du cancer. 2006 Feb;118(4):963-9	Epidermal growth factor receptor mutations in needle biopsy/aspiration samples predict response to gefitinib therapy and survival of patients with advanced nonsmall cell lung cancer.		131550	16478	2	2005			gefitinib									
122023	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Uramoto, H.  et al. 2005	16198442				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese		CDC GDPinfo	1956	Hs.488293			Lung cancer (Amsterdam, Netherlands). 2006 Jan;51(1):71-7	Epidermal growth factor receptor mutations are associated with gefitinib sensitivity in non-small cell lung cancer in Japanese.		131550	16479	2	2005			gefintinib smoking (tobacco)									
122024		lung cancer; colorectal cancer; esophageal cancer; stomach cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Esophageal Neoplasms|Colonic Neoplasms|Stomach Neoplasms|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Endo, K.  et al. 2005	16199108				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Lung cancer (Amsterdam, Netherlands). 2005 Dec;50(3):375-84	Epidermal growth factor receptor gene mutation in non-small cell lung cancer using highly sensitive and fast TaqMan PCR assay.		131550	16480	2	2005												
122019		stomach cancer	CANCER	CAN	Cholangiocarcinoma|Bile Duct Neoplasms	7	7p12	EGFR	55054218	55242525		Gwak, G. Y.  et al. 2005	16032426				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of cancer research and clinical oncology. 2005 Oct;131(10):649-52	Detection of response-predicting mutations in the kinase domain of the epidermal growth factor receptor gene in cholangiocarcinomas.		131550	16475	2	2005	 This study, for the first time, demonstrates that a subset of cholangiocarcinoma patients has response-predicting EGFR mutations. Therefore, a highly selected application of the EGFR kinase inhibitor would be therapeutically effective in these patients.											
122020		lung cancer; smoking behavior	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sonobe, M.  et al. 2005	16052218				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			British journal of cancer. 2005 Aug;93(3):355-63	Mutations in the epidermal growth factor receptor gene are linked to smoking-independent, lung adenocarcinoma.		131550	16476	2	2005												
122021	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local	7	7p12	EGFR	55054218	55242525		Kondo, M.  et al. 2005	16140420				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Lung cancer (Amsterdam, Netherlands). 2005 Dec;50(3):385-91	Mutations of epidermal growth factor receptor of non-small cell lung cancer were associated with sensitivity to gefitinib in recurrence after surgery.		131550	16477	2	2005												
122016		lung cancer	CANCER	CAN	Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Hsieh, R. K.  et al. 2005	16002952				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Chest. 2005 Jul;128(1):317-21	Female sex and bronchioloalveolar pathologic subtype predict EGFR mutations in non-small cell lung cancer.		131550	16472	2	2005	 In our series, female sex and bronchioloalveolar pathologic subtype predicted the presence of EGFR mutations in lung adenocarcinomas, and the high frequency of EGFR mutations supports the hypothesis that genetic backgrounds and/or environmental factors may affect the pathogenesis of certain lung cancers.											
122017		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sasaki, H.  et al. 2005	16003726				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese	Japan	CDC GDPinfo	1956	Hs.488293			International journal of cancer. Journal international du cancer. 2006 Jan;118(1):180-4	EGFR and erbB2 mutation status in Japanese lung cancer patients.		131550	16473	2	2005												
122018	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Rosell, R.  et al. 2005	16011858				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Lung cancer (Amsterdam, Netherlands). 2005 Oct;50(1):25-33	Mutations in the tyrosine kinase domain of the EGFR gene associated with gefitinib response in non-small-cell lung cancer.		131550	16474	2	2005			gefitinib									
122013	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sasaki, H.  et al. 2005	15837743				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese	Japan	CDC GDPinfo	1956	Hs.488293			Clinical cancer research. 2005 Apr;11(8):2924-9	EGFR Mutation status in Japanese lung cancer patients: genotyping analysis using LightCycler.		131550	16469	2	2005	 Using the LightCycler PCR assay, the EGFR L858R mutation status might correlate with gender, pathologic subtypes, and gefitinib sensitivity of lung cancers. However, further genotyping studies are needed to confirm the mechanisms of EGFR mutations for the sensitivity or resistance of gefitinib therapy for the lung cancer.	Cohort 118 surgically treated lung cancer cases from Nagoya City University Hospital (n=102) and gefitinib-treated lung cancer cases from Kinki-chuo Chest Medical Center (n=16) Japan 	gefitinib									
122015		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Takano, T.  et al. 2005	15998907				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of clinical oncology. 2005 Oct;23(28):6829-37	Epidermal growth factor receptor gene mutations and increased copy numbers predict gefitinib sensitivity in patients with recurrent non-small-cell lung cancer.		131550	16471	2	2005	 EGFR mutations and increased copy numbers were significantly associated with better clinical outcome in gefitinib-treated NSCLC patients.											
122010		melanoma	CANCER	CAN		7	7p12	EGFR	55054218	55242525		Bielawski, K. P.  et al. 2005	16240846			intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Polish		CDC GDPinfo	1956	Hs.488293			The International journal of biological markers. 2005 Jul-Sep;20(3):184-8	An epidermal growth factor receptor intron 1 polymorphism in healthy women in Poland.		131550	10261	2	2005												
122011		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Han, S. W.  et al. 2005	15710947				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of clinical oncology. 2005 Apr;23(11):2493-501	Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib.		131550	16467	2	2005	 Our data further support the importance of EGFR mutation with regard to gefitinib sensitivity. In addition to its predictive role, EGFR mutation confers significant survival benefits on NSCLC patients treated with gefitinib.	Cohort 90 consecutive non-small-cell lung cancer patients treated with gefitinib 	gefittinib									
122012	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Recurrence, Local	7	7p12	EGFR	55054218	55242525		Mitsudomi, T.  et al. 2005	15738541				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of clinical oncology. 2005 Apr;23(11):2513-20	Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence.		131550	16468	2	2005	 EGFR mutations were a good predictor of clinical benefit of gefitinib in this setting.	Cohort 59 patients with lung cancer who were treated with gefitinib 	gefitinib									
122007		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	7	7p12	EGFR	55054218	55242525		Etienne-Grimaldi, M. C.  et al. 2005	15829495				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Annals of oncology. 2005 Jun;16(6):934-41	Analysis of the dinucleotide repeat polymorphism in the epidermal growth factor receptor (EGFR) gene in head and neck cancer patients.		131550	10258	2	2005	 Intron 1 EGFR polymorphism may be implicated in the regulation of EGFR expression in head and neck tumors.	Cohort 112 head and neck cancer patients (100 men, 12 women; mean age 60 years) 										
122009		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p12	EGFR	55054218	55242525		Zhang, W.  et al. 2005	16098254				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Clinical colorectal cancer. 2005 Jul;5(2):124-31	Gene polymorphisms of epidermal growth factor receptor and its downstream effector, interleukin-8, predict oxaliplatin efficacy in patients with advanced colorectal cancer.		131550	10260	2	2005	 Overall, our data suggest that gene polymorphisms active in the EGFR pathway may be associated with the sensitivity of colorectal cancer patients to platinum-based chemotherapy.		5-flurouracil oxaliplatin									
122004	Y	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Magistroni, R.  et al. 2003	12653106				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Journal of nephrology. 2003 Jan-Feb;16(1):110-5	Epidermal growth factor receptor polymorphism and autosomal dominant polycystic kidney disease.		131550	10255	2	2003	 These findings suggest an association between the EGFR microsatellite polymorphism and ADPKD. However, it is difficult to establish which alleles are protective and which harmful. A larger, multicenter study may help clarify these results and is also required to replicate our preliminary finding of an association between ADPKD and the EGFR polymorphism.	Case:46 unrelated patients with autosomal dominant polycystic kidney disease and end stage renal:disease;Control:58 healthy controls										
122005	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Huang, C. M.  et al. 2004	15540509				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		Taiwan	CDC GDPinfo	1956	Hs.488293			Lupus. 2004 ;13(10):773-6	Epidermal growth factor receptor (EGFR) gene Bsr I polymorphism is associated with systemic lupus erythematosus.		131550	10256	2	2004	The results suggest that the EGFR gene Bsr I polymorphism is related to SLE.	Control:100 unrelated healthy individuals;Case:119 Chinese patients with systemic lupus erythematosus:patients:Taiwan										
122001		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p12	EGFR	55054218	55242525		Brandt B 2004	14729599				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		Germany	KGB	1956	Hs.488293			Cancer research. 2004 Jan;64(1):12-Jul	Modification of breast cancer risk in young women by a polymorphic sequence in the egfr gene.		131550	2344	1	2004												
122002		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p12	EGFR	55054218	55242525		Buerger H 2004	15095477				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese	Japan|Germany	KGB	1956	Hs.488293			The Journal of pathology. 2004 May;203(1):545-50	Allelic length of a CA dinucleotide repeat in the egfr gene correlates with the frequency of amplifications of this sequence--first results of an inter-ethnic breast cancer study.		131550	2345	1	2004												
122003		prostate cancer	CANCER	CAN		7	7p12	EGFR	55054218	55242525		Liu, W.  et al. 2003	12631599			intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Clinical cancer research. 2003 Mar;9(3):1009-12	Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism.		131550	10254	2	2003	 Major interethnic differences in the allelic frequencies of the EGFR intron 1 polymorphism exist. Our results may contribute to a better understanding of the molecular basis underlying ethnic differences in drug response and may be helpful for future strategies of individualized therapy with EGFR inhibitors.	Cohort 183/84/66 Caucasian (n = 183), African-American (n = 84), and Asian (n = 66) 										
121998	Y	glioblastoma multiforme	CANCER	CAN	Glioblastoma	7	7p12	EGFR	55054218	55242525		Hayashi Y et al. 1997	9217972				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			KGB	1956	Hs.488293			Brain pathology (Zurich, Switzerland). 1997 Jul;7(3):871-5	Association of EGFR gene amplification and CDKN2 (p16/MTS1) gene deletion in glioblastoma multiforme.		131550	2341	1	1997												
121999		cervical squamous cell carcinoma.	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	7	7p12	EGFR	55054218	55242525		Cho NH 2003	14599865				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			KGB	1956	Hs.488293			Gynecologic oncology. 2003 Nov;91(2):346-53	P63 and EGFR as prognostic predictors in stage IIB radiation-treated cervical squamous cell carcinoma.		131550	2342	1	2003	 The expression of p63 gene is associated with poor survival and locoregional failure, whereas EGFR expression was found to be a prognostic predictor of extrapelvic failure. Both molecules were found to be potent molecular risk factors in patients with FIGO stage IIB SCC of the uterine cervix, who had received radiotherapy and concurrent chemotherapy.											
122000		oral cavity cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	7	7p12	EGFR	55054218	55242525		Chen IH 2003	12915878				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		Taiwan	KGB	1956	Hs.488293			British journal of cancer. 2003 Aug;89(4):681-6	Prognostic significance of EGFR and Her-2 in oral cavity cancer in betel quid prevalent area cancer prognosis.		131550	2343	1	2003												
121995		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q25	EGF	111053498	111152868		Frossard, P. M.  et al. 2002	12009575				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		United Arab Emirates	CDC GDPinfo	1950	Hs.419815			Molecular immunology. 2002 May;38(13-Dec):969-76	A study of five human cytokine genes in human essential hypertension		131530	17643	2	2002	However, although they do not reach statistical significance (which may be due to the relatively restricted number of subjects included in this study), the distribution differences (in normotensives and hypertensives) observed in the cases of EGF and TNF-alpha reflect trends that could be expected from a mechanistic explanation of the pathways that underlie the patho-physiology of hypertension.	Case:81:hypertensives Abu Dhabi Emirate;Control:93:normotensives										
121996		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	4	4q25	EGF	111053498	111152868		Suzuki, A.  et al. 2004	15081423				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Japanese	Japan	CDC GDPinfo	1950	Hs.419815			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		131530	26848	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
121997		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Saito, T.  et al. 2004	15063762				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		Japan	CDC GDPinfo	1950	Hs.419815			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		131530	28041	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
121991	Y	heart rate; arrhythmia, cardiac	CARDIOVASCULAR	CARD		4	4q25	EGF	111053498	111152868		Puttonen, S.  et al. 2005	15913871	A61G			Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			Progress in neuro-psychopharmacology & biological psychiatry. 2005 Jun;29(5):702-7	Epidermal growth factor A61G polymorphism and cardiac autonomic control in adults.		131530	10251	2	2005	The present findings suggest that epidermal growth factor A61G polymorphism is associated with cardiac control in women.	Cohort 75 young adults 										
121992	Y	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q25	EGF	111053498	111152868		Hanninen, K.  et al. 2005	16115648	A61G			Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			Journal of psychiatric research. 2005	Epidermal growth factor a61g polymorphism is associated with the age of onset of schizophrenia in male patients.		131530	10252	2	2005												
121993	N	stomach cancer	CANCER	CAN	Stomach Neoplasms	4	4q25	EGF	111053498	111152868		Goto, Y.  et al. 2005	16214932				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2454-6	No association between EGF gene polymorphism and gastric cancer.		131530	10253	2	2005												
121994	N	melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Randerson-Moor, J. A.  et al. 2004	15373781			5' promoter	Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			The Journal of investigative dermatology. 2004 Oct;123(4):755-9	The relationship between the epidermal growth factor (EGF) 5'UTR variant A61G and melanoma/nevus susceptibility.		131530	16466	2	2004	This is the second study to find no association between EGF +61 and melanoma susceptibility.	Case:380 melanoma cases;Control:697 healthy women										
121988	N	schizophrenia; lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease|Schizophrenia	4	4q25	EGF	111053498	111152868		Lim, Y. J.  et al. 2005	15663953				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Korean	Korea	CDC GDPinfo	1950	Hs.419815			Neuroscience letters. 2005 Feb;374(3):157-60	Epidermal growth factor gene polymorphism is different between schizophrenia and lung cancer patients in Korean population.		131530	10248	2	2005	These results indicate that schizophrenia is not associated with AluI polymorphism of EGF gene and EGF gene polymorphism is different between schizophrenia and lung cancer patients.	Control:132:controls;Case:174/122 schizophrenic patients (n=174) and lung cancer:patients (n=122):Korea										
121989	N	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q25	EGF	111053498	111152868		Watanabe, Y.  et al. 2005	15729146				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Japanese		CDC GDPinfo	1950	Hs.419815			Neuroreport. 2005 Mar;16(4):403-5	No association of EGF polymorphism with schizophrenia in a Japanese population.		131530	10249	2	2005	Our results suggest that the polymorphism in EGF gene might not confer increased susceptibility for schizophrenia in a Japanese population.	Case:337 Japanese schizophrenic cases;Control:421:controls										
121990	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	4	4q25	EGF	111053498	111152868		Hamai, Y.  et al. 2005	15860930				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			Pathobiology. 2005 ;72(3):133-8	A single nucleotide polymorphism in the 5' untranslated region of the EGF gene is associated with occurrence and malignant progression of gastric cancer.		131530	10250	2	2005	 Our findings suggest that the A-G polymorphism of EGF is involved not only in the occurrence but also in the malignant progression of gastric cancer.	Case:200 gastric cancer patients;Control:230 healthy controls										
121983		glioblastoma multiforme	CANCER	CAN	Glioblastoma	4	4q25	EGF	111053498	111152868		Bhowmick DA 2004	14973082				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			KGB	1950	Hs.419815			Cancer research. 2004 Feb;64(4):1220-3	A functional polymorphism in the EGF gene is found with increased frequency in glioblastoma multiforme patients and is associated with more aggressive disease.		131530	2340	1	2004												
121984	Y	malignant melanoma	CANCER	CAN	Melanoma	4	4q25	EGF	111053498	111152868		Shahbazi, M.  et al. 2002	11844511				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		Europe	CDC GDPinfo	1950	Hs.419815			Lancet. 2002 Feb;359(9304):397-401	Association between functional polymorphism in EGF gene and malignant melanoma.		131530	10244	2	2002	This study suggests that high EGF production might be important in the development of malignant melanoma.	Case:135 white European patients presenting with malignant melanoma or who were attending the Dermatology Departments at the Leicester Royal Infirmary or North Staffordshire Hospitals between 1996 and 1997 United Kingdom:January, 1994- December, 1997;Control:99 healthy white European volunteers (mainly medical and laboratory staff) with an age range of 20??60 years who had no evidence of melanoma)										
121985	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		McCarron, S. L.  et al. 2003	14520709	A61G			Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		Great Britain	CDC GDPinfo	1950	Hs.419815			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):673-5	EGF +61 gene polymorphism and susceptibility to and prognostic markers in cutaneous malignant melanoma		131530	10245	2	2003	In summary, in our group, the EGF +61 polymorphism was not a risk factor for CMM susceptibility, but this polymorphism may play a role in disease progression.	Case:159 cutaneous malignant melanoma patients;Control:310:controls										
121980	Y	malignant melanoma	CANCER	CAN	Melanoma	4	4q25	EGF	111053498	111152868		Shahbazi M et al. 2002	11844511				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		Europe	KGB	1950	Hs.419815			Lancet. 2002 Feb;359(9304):397-401	Association between functional polymorphism in EGF gene and malignant melanoma.		131530	2337	1	2002	This study suggests that high EGF production might be important in the development of malignant melanoma.	Case:135 white European patients presenting with malignant melanoma or who were attending the Dermatology Departments at the Leicester Royal Infirmary or North Staffordshire Hospitals between 1996 and 1997 United Kingdom:January, 1994- December, 1997;Cont										
121981	N	cutaneous malignant melanoma.	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		McCarron SL 2003	14520709				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		Great Britain	KGB	1950	Hs.419815			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):673-5	EGF +61 gene polymorphism and susceptibility to and prognostic markers in cutaneous malignant melanoma.		131530	2338	1	2003	In summary, in our group, the EGF +61 polymorphism was not a risk factor for CMM susceptibility, but this polymorphism may play a role in disease progression.	Case:159 cutaneous malignant melanoma patients;Control:310:controls										
121982	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	4	4q25	EGF	111053498	111152868	0.004	Suzuki A 2004	15081423				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Japanese	Japan	KGB	1950	Hs.419815			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		131530	2339	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
121976	N	early onset drusen	OTHER	OTH	Retinal Drusen	2	2p16	EFEMP1	55946605	56004436	n	Sauer CG et al. 2001	11262647				EGF-containing fibulin-like extracellular matrix protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004105.3			KGB	2202	Hs.76224			Ophthalmic genetics. 2001 Mar;22(1):27-34	EFEMP1 is not associated with sporadic early onset drusen.		601548	2574	1	2001	We conclude that  EFEMP1 is unlikely to be involved in the disease in this patient group. This suggests that mutations in a different as yet unknown gene or genes may lead to the early onset drusen phenotype.											
121977		macular degeneration	VISION	VIS	Retinal Degeneration|Macular Degeneration|Retinal Drusen	2	2p16	EFEMP1	55946605	56004436		Narendran, N.  et al. 2005	15218514				EGF-containing fibulin-like extracellular matrix protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004105.3			CDC GDPinfo	2202	Hs.76224			Eye (London, England). 2005 Jan;19(1):5-Nov	Analysis of the EFEMP1 gene in individuals and families with early onset drusen.		601548	16464	2	2005	 The term early onset drusen encompasses a wide range of phenotypes and our findings indicate that it is likely that more than one gene is involved in its causation. It is essential that these clinical phenotypes are well described and categorised to allow greater possibility of success in the search for other disease genes.	Case individuals presenting with drusen/end-stage maculopathy at 60 years or under identified from retinal clinics:Melbourne;Control:116 ethnically matched controls were collected from the same community										
121978		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	6	6p12.3	EFHC1	52393070	52465177			16378686				EF-hand domain (C-terminal) containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018100.1			CDC GDPinfo	114327	Hs.403171			Neuroscience letters. 2005	Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG		608815	13768	2	2005												
121972		glaucoma; glaucoma, primary open-angle	VISION	VIS	Vision Disorders|Glaucoma, Open-Angle	13	13q22	EDNRB	77367616	77447665		Ishikawa, K.  et al. 2005	15988412				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Molecular vision [electronic resource]. 2005 Jun;11:431-7	Association between glaucoma and gene polymorphism of endothelin type A receptor.		131244	24329	2	2005	 The polymorphism of EDNRA/C+70G may be related to NTG risk factors.											
121973		stroke, lacunar; small-vessel disease	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction|Leukoaraiosis	13	13q22	EDNRB	77367616	77447665		Gormley, K.  et al. 2005	16002759				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Stroke; a journal of cerebral circulation. 2005 Aug;36(8):1656-60	Polymorphisms in genes of the endothelin system and cerebral small-vessel disease.		131244	24330	2	2005	 This study, in a well-phenotyped population, does not support a role for genetic variation in the ET system as a risk factor for cerebral SVD.											
121974		hypertension	CARDIOVASCULAR	CARD	Hypertension	13	13q22	EDNRB	77367616	77447665		Liljedahl, U.  et al. 2003	12544508				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		131244	28460	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
121969		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Hirschsprung Disease	13	13q22	EDNRB	77367616	77447665		Soufir, N.  et al. 2005	16145050				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Journal of the National Cancer Institute. 2005 Sep;97(17):1297-301	Association between endothelin receptor B nonsynonymous variants and melanoma risk.		131244	16463	2	2005												
121970	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders	13	13q22	EDNRB	77367616	77447665		Tzourio, C.  et al. 2001	11376172				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Neurology. 2001 May;56(10):1273-7	Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism.		131244	21209	2	2001	 A variant of the ET(A) receptor gene modulates the risk for migraine. These results offer new insights into the pathophysiology of the vascular component of migraine.	Cohort 1188 A population-based study of elderly individuals Nantes, western France 										
121971		cardiomyopathy, idiopathic dilated	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	13	13q22	EDNRB	77367616	77447665		Herrmann, S.  et al. 2001	11601839				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			European heart journal. 2001 Oct;22(20):1948-53	A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy.		131244	24328	2	2001	 Our results suggest that genetic variation in the ETA receptor predicts survival in dilated cardiomyopathy patients, which might have important consequences for the identification of high-risk individuals.	Cohort 125 unrelated dilated cardiomyopathy patients of a well characterized dilated cardiomyopathy cohort 										
121966	N	Asthma	IMMUNE	IMM	Asthma	13	13q22	EDNRB	77367616	77447665	n	Mao X 1999	10448102	ET-RA AB			Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1	Japanese	Japan|England	KCB	1910	Hs.82002			Biochemical and biophysical research communications. 1999 Aug;262(1):259-62			131244	2335	1	1999												
121967	Y	Hirschsprung disease	OTHER	OTH	Hirschsprung Disease|Horse Diseases	13	13q22	EDNRB	77367616	77447665		Metallinos DL et al. 1998	9585428				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			KGB	1910	Hs.82002			Mammalian genome. 1998 Jun;9(6):426-31	A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease.		131244	2336	1	1998												
121968	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Down Syndrome|Genetic Predisposition to Disease	13	13q22	EDNRB	77367616	77447665		Zaahl, M. G.  et al. 2003	12628594				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDPinfo	1910	Hs.82002			Molecular and cellular probes. 2003 Feb;17(1):49-54	Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease:predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome.		131244	10241	2	2003	Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype.	Cohort 52 unrelated sporadic Hirschsprung's disease patients 										
121961		cardiomyopathy, idiopathic dilated	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	4	4q31.22-q31.23	EDNRA	148621579	148685555		Herrmann, S.  et al. 2001	11601839				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			European heart journal. 2001 Oct;22(20):1948-53	A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy.		131243	21206	2	2001	 Our results suggest that genetic variation in the ETA receptor predicts survival in dilated cardiomyopathy patients, which might have important consequences for the identification of high-risk individuals.	Cohort 125 unrelated dilated cardiomyopathy patients of a well characterized dilated cardiomyopathy cohort 										
121962		glaucoma; glaucoma, primary open-angle	VISION	VIS	Vision Disorders|Glaucoma, Open-Angle	4	4q31.22-q31.23	EDNRA	148621579	148685555		Ishikawa, K.  et al. 2005	15988412				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Molecular vision [electronic resource]. 2005 Jun;11:431-7	Association between glaucoma and gene polymorphism of endothelin type A receptor.		131243	21207	2	2005	 The polymorphism of EDNRA/C+70G may be related to NTG risk factors.											
121964		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.22-q31.23	EDNRA	148621579	148685555		Liljedahl, U.  et al. 2003	12544508				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		131243	28439	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
121957	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders	4	4q31.22-q31.23	EDNRA	148621579	148685555		Tzourio C et al. 2001	11376172				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			KGB	1909	Hs.183713			Neurology. 2001 May;56(10):1273-7	Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism.		131243	2334	1	2001	 A variant of the ET(A) receptor gene modulates the risk for migraine. These results offer new insights into the pathophysiology of the vascular component of migraine.	Cohort 1188 A population-based study of elderly individuals Nantes, western France										
121959	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders	4	4q31.22-q31.23	EDNRA	148621579	148685555		Tzourio, C.  et al. 2001	11376172	(ETA -231 A/G)			Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Neurology. 2001 May;56(10):1273-7	Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism.		131243	10239	2	2001	 A variant of the ET(A) receptor gene modulates the risk for migraine. These results offer new insights into the pathophysiology of the vascular component of migraine.	Cohort 1188 A population-based study of elderly individuals Nantes, western France 										
121960	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.22-q31.23	EDNRA	148621579	148685555		Benjafield, A.  et al. 2003	14616768				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Clinical genetics. 2003 Nov;64(5):433-8	Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension.		131243	10710	2	2003	Our study thus suggests possible involvement of EDNRA in essential HT.	Case:155 essential hypertensive patients with two hypertensive parents;Control:245 normotensives whose parents were both normotensive										
121954		atherosclerosis, coronary	CARDIOVASCULAR	CARD		6	6p24.1	EDN1	12398644	12404763		Ortlepp, J. R.  et al. 2002	12446192				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		131240	27704	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
121955		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p24.1	EDN1	12398644	12404763		Zee, R. Y.  et al. 2002	12082592				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		131240	28438	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
121956	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p34	EDN2	41717032	41722884		Sharma P et al. 1999	10489105				Endothelin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001956.2			KGB	1907	Hs.1407			Journal of hypertension. 1999 Sep;17(9):1281-7	Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension.		131241	2333	1	1999	 This newly identified polymorphism of the ET2 gene tracked significantly in hypertensives when blood pressure was assessed as a quantitative trait. The difference in genotype and allele frequencies between the extremes of blood pressure suggest that the ET2 locus influences the severity rather than the initial development of hypertension.											
121950		left ventricular hypertrophy; blood flow; left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	6	6p24.1	EDN1	12398644	12404763		Minushkina, L. O.  et al. 2005	15699938				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Kardiologiia. 2005 ;45(1):41-50	[Angiotensin Converting Enzyme, NO-Synthase, and Endothelin-1 Genes and Left Ventricular Hypertrophy in Natives of Yakutia With Hypertensive Disease.]		131240	21204	2	2005	Polymorphic marker G7831A of ACE gene was not associated with severity of hypertrophy of left ventricular myocardium as well as with state of systolic and diastolic left ventricular function. Patients with allele Asn of EDN1 gene in the genotype had significantly lower value of peak A integral of transmitral blood flow. Patients with allele 4a of NOS3 gene had thicker left ventricular walls, greater left ventricular myocardial mass and mass index.	Cohort 70 natives of Yakutia with hypertension (31 men and 39 women) Yakutia 										
121951		blood pressure, arterial	CARDIOVASCULAR	CARD		6	6p24.1	EDN1	12398644	12404763		Funalot, B.  et al. 2004	15126915				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Journal of hypertension. 2004 Apr;22(4):739-43	Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study.		131240	21205	2	2004	 Results from this large association study suggest that the genes encoding ECE-1 and ET-1 interact to modulate BP levels in women.	Cohort 1,189 subjects participating in the Etude du Vieillissement Arteriel 										
121952		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	6	6p24.1	EDN1	12398644	12404763		Weese-Mayer, D. E.  et al. 2004	15240857				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		131240	25965	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
121947		lymphoma	CANCER	CAN		6	6p24.1	EDN1	12398644	12404763		Vasku, V.  et al. 2004	15818445				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Acta dermatovenerologica Alpina, Panonica, et Adriatica. 2004 Dec;13(4):111-6, 118	Association of variants in angiotensin-converting enzyme and endothelin-1 genes with phototherapy in cutaneous T-cell lymphoma.		131240	21201	2	2004	Some polymorphic variants in ACE and EDN1 genes (a heterozygote ID in I/D ACE, a homozygote -4A-4A in -3A /-4A EDN1 and genotypes GA and GG in G8002A EDN1) seem to carry an advantage for phototherapy effectiveness in patients with CTCL.	Control:203 non-cutaneous T-cell lymphoma group of the similar age and gender distribution;Case:77 patients with cutaneous T-cell lymphoma, diagnosed and treated at the First Dermatological Clinic of St. Ann's Faculty Hospital Brno (46 men and 31 women, median age 62, range 26-80 years)										
121948		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Holla, L. I.  et al. 2001	11210078				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Journal of periodontology. 2001 Jan;72(1):85-9	Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis		131240	21202	2	2001	 This study is of an exploratory nature. Considering the number of significant results, however, at least a part of the observed associations may obviously be real and our findings suggest that interactions of the TNF-beta, ET-1, and ACE genes may be involved in susceptibility to adult periodontitis.	Case:63 Caucasian patients with adult periodontitis;Control:95 orally healthy controls										
121949		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Kankova, K.  et al. 2001	11399938				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Ophthalmologica. 2001 Jul-Aug;215(4):294-8	Duration of non-Insulin-dependent diabetes mellitus and the TNF-beta NcoI genotype as predictive factors in proliferative diabetic retinopathy.		131240	21203	2	2001	Our results identified the allele variant TNF-beta(2) being associated with PDR in NIDDM. Diabetes duration and the TNF-beta NcoI genotype were proven to significantly predict PDR occurrence. The TNF-beta(2) allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.	Case non-PDR NIDDM subjects;Control:176 nondiabetic subjects;Case:246 Caucasian non-insulin-dependent diabetes mellitus (NIDDM) subjects with defined proliferative diabetic retinopathy status (PDR)										
121944	Y	kidney dysfunction	RENAL	REN	Kidney Failure, Chronic|Albuminuria	6	6p24.1	EDN1	12398644	12404763		Pinto-Sietsma, S. J.  et al. 2003	14514737				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Journal of the American Society of Nephrology. 2003 Oct;14(10):2596-602	Role of the endothelin-1 gene locus for renal impairment in the general nondiabetic population.		131240	16460	2	2003	Although a fuYctioYal relevaYce of the EDY1 G-Y haplotype itself remaiYs uYclear, the data demoYstrate that geYetic variatioY at the EDY1 locus has a sigYificaYt effect oY glomerular filtratioY but Yot oY UAE iY the geYeral	Cohort 7,291 nondiabetic subjects from the Prevention of Renal and Vascular End-Stage Disease (PREVEND) study 										
121945	Y	left ventricular hypertrophy; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	6	6p24.1	EDN1	12398644	12404763		Hallberg, P.  et al. 2004	15188945				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Swedish		CDC GDPinfo	1906	Hs.511899			Clinical cardiology. 2004 May;27(5):287-90	Gender-specific association between preproendothelin-1 genotype and reduction of systolic blood pressure during antihypertensive treatment--results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA).		131240	16461	2	2004	 Our finding suggests a gender-specific relationship between the G5665T preproendothelin-1 polymorphism and change in SBP in response to antihypertensive treatment with irbesartan or atenolol, suggesting the endothelin pathway to be a common mechanism included in the hypertensive action of the drugs.	Cohort 102 patients with essential hypertension and left ventricular hypertrophy 	atenolol irbesartan									
121946		left ventricular hypertrophy; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	6	6p24.1	EDN1	12398644	12404763		Dong, Y.  et al. 2004	15505112				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Hypertension. 2004 Dec;44(6):884-90	Endothelin-1 Gene and Progression of Blood Pressure and Left Ventricular Mass. Longitudinal Findings in Youth		131240	16462	2	2004	In summary, our results uncover a sex-specific protective effect of variation in the ET-1 gene on the progression of hypertension risk, and a SES-specific effect on risk of developing left ventricular hypertrophy in multiethnic youth.	Cohort 537 European American and black youths with 12 assessments during a 15-year period 										
121941		blood pressure	CARDIOVASCULAR	CARD	Hypertension|Obesity	6	6p24.1	EDN1	12398644	12404763		Asai, T.  et al. 2001	11751711				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Japanese	Japan	CDC GDPinfo	1906	Hs.511899			Hypertension. 2001 Dec;38(6):1321-4	Endothelin-1 gene variant associates with blood pressure in obese Japanese subjects: the OhasamaStudy.		131240	16457	2	2001	Baseline characteristics (age, BMI, systolic and diastolic BP, and antihypertensive treatment) of all subjects were not significantly different according to the genotype of G/T polymorphism. However, in obese subjects (> or =25 kg/m(2)) diastolic BPs were significantly associated with G/T polymorphism of ET-1. After adjustment for confounding factors, significant association remained; for overweight subjects, diastolic BP level in those with T allele (GT + TT) was 1.8 mm Hg (P=0.04) higher than in those with GG genotype. That similar results were obtained from subjects of different races suggests that the Lys198Asn polymorphism of ET-1 is involved in determination of BP levels in obese subjects.	Cohort 250 subjects from Ohasama, a cohort in a rural community of northern Japan Japan 										
121942		asthma; atopy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p24.1	EDN1	12398644	12404763		Holla, L. L.  et al. 2001	11831453				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2		Czech Republic	CDC GDPinfo	1906	Hs.511899			Journal of investigational allergology & clinical immunology. 2001 ;11(3):193-8	Variants of endothelin-1 gene in atopic diseases.		131240	16458	2	2001	 These findings suggest that ET-1 may participate in the pathogenesis of high total serum IgE level in clinically manifested atopic diseases in our population.	Control:186 unrelated referent subjects with negative familial history of asthma/atopy.;Case:270 Czech patients (Caucasians, Central Europe) with clinically manifested atopic diseases										
121943		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Jin, J. J.  et al. 2003	12511547				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Hypertension. 2003 Jan;41(1):163-7	Association of endothelin-1 gene variant with hypertension		131240	16459	2	2003	Considering the combined impact of obesity and hypertension on the development of cardiovascular and cerebrovascular disorders, T allele carriers might represent elective targets for therapy to lower their body weight.	Cohort large Japanese population sample 	body mass									
121938		stroke, lacunar; small-vessel disease	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction|Leukoaraiosis	6	6p24.1	EDN1	12398644	12404763		Gormley, K.  et al. 2005	16002759				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Stroke; a journal of cerebral circulation. 2005 Aug;36(8):1656-60	Polymorphisms in genes of the endothelin system and cerebral small-vessel disease.		131240	10243	2	2005	 This study, in a well-phenotyped population, does not support a role for genetic variation in the ET system as a risk factor for cerebral SVD.											
121939		psoriasis	IMMUNE	IMM	Psoriasis|Neovascularization, Pathologic	6	6p24.1	EDN1	12398644	12404763		Vasku, V. = V et al. 2002	12077518	C(-735)T			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Dermatology (Basel, Switzerland). 2002 ;204(4):262-5	Genotype association of C(-735)T polymorphism in matrix metalloproteinase 2 gene with G(8002)A endothelin 1 gene with plaque psoriasis.		131240	12437	2	2002	 The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.	Case:119 patients with plaque psoriasis, aged 44 15 years;Control:119 healthy subjects without any individual history of psoriasis, aged 37 15 years										
121940	Y	hypertension; cirrhosis	CARDIOVASCULAR	CARD	Hepatitis B, Chronic|Hypertension, Portal|Liver Cirrhosis	6	6p24.1	EDN1	12398644	12404763		Cheng, Y. Q.  et al. 2004	15623376				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Zhonghua gan zang bing za zhi. 2004 Nov;12(11):669-72	[Relationship of endothelin-1 (ET-1) TaqI and tumor necrosis factor (TNF) a gene polymorphism with portal hypertension in liver cirrhosis.]		131240	14356	2	2004	 ET-1 TaqI polymorphism and TNFa polymorphism are associated with portal hypertension, and are new risk factors for the occurrence of portal hypertension. TCF2 genotype may be a susceptible gene of portal hypertension.	Case:106 patients with liver cirrhosis following HBV C:infection;Control:108:controls										
121934	Y	arrhythmia, cardiac	CARDIOVASCULAR	CARD		6	6p24.1	EDN1	12398644	12404763		Kozak, M.  et al. 2004	15838369				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Journal of cardiovascular pharmacology. 2004 Nov;44:S92-S95	Endothelin-1 Gene Polymorphism in Patients with Malignant Arrhythmias.		131240	10236	2	2004	All our results indicate that the presence of the ET-1 genotype (++) in patients with structural heart disease, severe left ventricular dysfunction and malignant ventricular arrhythmias increases the risk for these patients of hemodynamic collapse during these arrhythmias.	Cohort 26 consecutive patients with malignant ventricular arrhythmias and implantable cardioverterdefibrillators with a mean age of 62.7 +/- 12.2 years and a mean left ventricular ejection fraction of 0.37 +/- 11.0 										
121935		vasoconstriction	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763			16097909	Lys198Asn			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Annals of behavioral medicine. 2005 Aug;30(1):85-9	Interactive effects of anger expression and ET-1 Lys198Asn polymorphism on vasoconstriction reactivity to behavioral stress		131240	10237	2	2005	 Individuals with a genetic predisposition for exaggerated vasoconstriction who also display low AM skills may be at particular risk for development of stress-induced EH. Such individuals may particularly benefit from anger management training.		behavioral traits									
121936		cardiomyopathy, idiopathic dilated	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	6	6p24.1	EDN1	12398644	12404763		Herrmann, S.  et al. 2001	11601839				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			European heart journal. 2001 Oct;22(20):1948-53	A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy.		131240	10240	2	2001	 Our results suggest that genetic variation in the ETA receptor predicts survival in dilated cardiomyopathy patients, which might have important consequences for the identification of high-risk individuals.	Cohort 125 unrelated dilated cardiomyopathy patients of a well characterized dilated cardiomyopathy cohort 										
121931		blood pressure, arterial	CARDIOVASCULAR	CARD	Obesity|Stress	6	6p24.1	EDN1	12398644	12404763		Treiber, F. A.  et al. 2003	12963677	Lys198Asn			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Hypertension. 2003 Oct;42(4):494-9	Endothelin-1 gene Lys198Asn polymorphism and blood pressure reactivity.		131240	10233	2	2003	In conclusion, the findings point out the importance of examining the impact of genetic polymorphisms on blood pressure control phenotypes within the context of potentiating environmental factors.	Cohort 161/213 black (n=161) and white (n=213) American normotensive young adults (mean age, 18.5+/-2.7 years) 										
121932		hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6p24.1	EDN1	12398644	12404763		Tanaka, C.  et al. 2004	15198485	Lys198Asn			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Hypertension research. 2004 May;27(5):367-71	Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene.		131240	10234	2	2004	Our transient expression study indicates that the Lys198Asn polymorphism may not directly affect ET-1 and big ET-1 production. Another variant in the EDN1 gene in linkage disequilibrium with the Lys198Asn polymorphism may be responsible for the association with BP, or the interaction between the EDN1 Lys198Asn polymorphism and other factors such as obesity may be involved in the mechanisms elevating BP in vivo.	Cohort 54 hypertensive subjects 										
121933	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6p24.1	EDN1	12398644	12404763		Kaetsu, A.  et al. 2004	15369130				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Japanese	Japan	CDC GDPinfo	1906	Hs.511899			Journal of epidemiology. 2004 Jul;14(4):129-36	The lack of relationship between an endothelin-1 gene polymorphism (Ala288ser) and incidence of hypertension: a retrospective cohort study amongJapanese workers		131240	10235	2	2004	 The ET-1 gene polymorphism in this study did not seem to be associated with the incidence of hypertension among the Japanese workers.	Cohort 922 Japanese workers at a company Shimane Prefecture in Japan 	alcohol smoking (tobacco)									
121928		preeclampsia; blood pressure; endothelin-1	METABOLIC	MET	Pre-Eclampsia	6	6p24.1	EDN1	12398644	12404763		Barden, A. E.  et al. 2001	11593097	Lys198Asn			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Journal of hypertension. 2001 Oct;19(10):1775-82	Association between the endothelin-1 gene Lys198Asn polymorphism blood pressure and plasma endothelin-1 levels in normal and pre-eclamptic pregnancy.		131240	10230	2	2001	 The Lys198Asn polymorphism does not directly contribute to the incidence of pre-eclampsia. However, the association of the T-allele with raised blood pressure and the T/T genotype with increased plasma ET-1 levels suggest that this polymorphism may interact with other genes or environmental factors to sensitize pregnant women to develop pre-eclampsia.	Case:72 proteinuric pre-eclamptics;Control:81 normal pregnant women										
121929		heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low	6	6p24.1	EDN1	12398644	12404763		Vasku, A.  et al. 2002	12565798				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Experimental and molecular pathology. 2002 Dec;73(3):230-3	The double heterozygote of two endothelin-1 gene polymorphisms (G8002A and -3A/-4A) is related to big endothelin levels in chronic heart failure.		131240	10231	2	2002	The double heterozygote variants of two ET-1 gene polymorphisms were associated with significantly less risk for chronic heart failure with higher levels of big endothelin.	Cohort 103 patients with chronic heart failure 										
121930		hypertension, cirrhotic portal	CARDIOVASCULAR	CARD	Hypertension, Portal|Liver Cirrhosis	6	6p24.1	EDN1	12398644	12404763		Lin, J. S.  et al. 2003	12887757				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Zhonghua yi xue za zhi. 2003 Mar;83(6):463-6	[Correlation between polymorphism of TaqI of ET-1 gene and cirrhotic portal hypertension]		131240	10232	2	2003	 Polymorphism of TaqI of ET-1 gene is correlated with the pathogenesis of cirrhotic portal hypertension. It may be one of the risk factors of portal hypertension.	Case:106 patients with cirrhosis after hepatitis B;Control:108 healthy blood donors										
121924	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763	P=0.044	Immervoll T 2001	11668616	T4124C			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	German. Swedish		KCB	1906	Hs.511899			Human mutation. 2001 Oct;18(4):327-36			131240	2329	1	2001												
121925	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763	n	Hirashiki A 2003	14563588	5665G3T (Lys198Asn)			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Japanese	Japan	KGB	1906	Hs.511899			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		131240	2330	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
121927	Y	plasma endothelin-1 levels	METABOLIC	MET	Pre-Eclampsia	6	6p24.1	EDN1	12398644	12404763		Barden AE et al. 2001	11593097				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KGB	1906	Hs.511899	pre-eclamptic pregnancy		Journal of hypertension. 2001 Oct;19(10):1775-82	Association between the endothelin-1 gene Lys198Asn polymorphism blood pressure and plasma endothelin-1 levels in normal and pre-eclamptic pregnancy.		131240	2332	1	2001	 The Lys198Asn polymorphism does not directly contribute to the incidence of pre-eclampsia. However, the association of the T-allele with raised blood pressure and the T/T genotype with increased plasma ET-1 levels suggest that this polymorphism may interact with other genes or environmental factors to sensitize pregnant women to develop pre-eclampsia.	Case:72 proteinuric pre-eclamptics;Control:81 normal pregnant women										
121919	N	Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Dermatitis, Atopic|Hypersensitivity, Immediate	6	6p24.1	EDN1	12398644	12404763	n	Holla 1999	10200023	8000			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KGB	1906	Hs.511899			The Journal of allergy and clinical immunology. 1999 Apr;103(4):702-8			131240	2324	1	1999	 It follows that the examined polymorphisms in the genes for ACE, angiotensinogen, and ET-1 could participate in the etiopathogenesis of atopic diseases.											
121920	N	Asthma	IMMUNE	IMM	Asthma	6	6p24.1	EDN1	12398644	12404763	n	Mao X 1999	10448102	ET-1AB			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Japanese	Japan|England	KCB	1906	Hs.511899			Biochemical and biophysical research communications. 1999 Aug;262(1):259-62			131240	2325	1	1999												
121921	Y	Total IgE. Eosinophilia. DRS	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763	P=0.044	Immervoll T 2001	11668616	T4124C			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	German. Swedish		KGB	1906	Hs.511899			Human mutation. 2001 Oct;18(4):327-36			131240	2326	1	2001												
121923		glaucoma	VISION	VIS	Glaucoma, Open-Angle	6	6p24.1	EDN1	12398644	12404763		Tunny TJ et al. 1998	9493554				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KGB	1906	Hs.511899			Clinical and experimental pharmacology & physiology. 1998 Jan;25(1):26-9	Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma.		131240	2328	1	1998												
121915		blood pressure, arterial; heart rate; orthostatic intolerance	CARDIOVASCULAR	CARD	Hypotension, Orthostatic	1	1p36.1	ECE1	21418938	21544493		Winker, R.  et al. 2005	16234608			5' promoter	Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDPinfo	1889	Hs.195080			The American journal of the medical sciences. 2005 Oct;330(4):166-71	Influence of an insertion variant in the 5'UTR of the endothelin-1 gene on orthostatic intolerance.		600423	16455	2	2005	 Our current results suggest that the hereditary adenine insertion variant in the 5'-UTR of the endothelin-1 gene is protective for orthostatic intolerance. The increased ET-1 protein expression that has been linked with the I variant might be associated with a more efficient hemodynamic response to standing. This is likely one of several common genetic loci that may represent modifiers of orthostatic intolerance phenotypes.											
121916		SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death	1	1p36.1	ECE1	21418938	21544493		Weese-Mayer, D. E.  et al. 2004	15240857				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDPinfo	1889	Hs.195080			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		600423	24327	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
121918	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763	P=0.044	Immervoll 2001	11668616	T4124C			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KCB	1906	Hs.511899			Human mutation. 2001 Oct;18(4):327-36			131240	2323	1	2001												
121911	Y	early-stage breast cancers	CANCER	CAN	Breast Neoplasms	8	8q23	EBAG9	110621104	110646567		Tsuneizumi M et al. 2001	11705872				Estrogen receptor binding site associated, antigen, 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004215.3			KGB	9166	Hs.409368			Clinical cancer research. 2001 Nov;7(11):3526-32	Overrepresentation of the EBAG9 gene at 8q23 associated with early-stage breast cancers.		605772	6614	1	2001												
121913	Y	ventricular arrhythmia, malignant	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Arrhythmias, Cardiac	1	1p36.1	ECE1	21418938	21544493		Kozak, M.  et al. 2002	12011762				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDPinfo	1889	Hs.195080			Medical science monitor. 2002 May;8(5):BR164-7	Endothelin-1 gene polymorphism in the identification of patients at risk for malignant ventricular arrhythmia		600423	10228	2	2002	 All our results suggested that the presence of the (++)ET-1 genotype in patients with structural heart disease, severe left ventricular dysfunction, and malignant ventricular arrhythmia put these patients at a higher risk of hemodynamic collapse during arrhythmic episodes.	Cohort 26 consecutive patients with malignant ventricular arrhythmia and implantable cardioverter defibrillators (ICD), mean age 62.7I12.2 years, mean LVEF 0.37I11 										
121914		blood pressure, arterial	CARDIOVASCULAR	CARD		1	1p36.1	ECE1	21418938	21544493		Funalot, B.  et al. 2004	15126915				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDPinfo	1889	Hs.195080			Journal of hypertension. 2004 Apr;22(4):739-43	Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study.		600423	16454	2	2004	 Results from this large association study suggest that the genes encoding ECE-1 and ET-1 interact to modulate BP levels in women.	Cohort 1,189 subjects participating in the Etude du Vieillissement Arteriel 										
121907		affective disorder	PSYCH	PSY		12	12q22-q23	DUSP6	88265967	88270427		Toyota T et al. 2000	11032376				Dual specificity phosphatase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001946.2			KGB	1848	Hs.298654			Molecular psychiatry. 2000 Sep;5(5):461, 489-94	Association study on the DUSP6 gene an affective disorder candidate gene on 12q23 performed by using fluorescence resonance energy transfer-based melting curve analysis on the LightCycler.		602748	2319	1	2000												
121909	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36	DVL1	1260520	1274623		Russ, C.  et al. 2002	11803455				Dishevelled, dsh homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004421.2			CDC GDPinfo	1855	Hs.74375			Molecular psychiatry. 2002 ;7(1):104-9	Identification of genomic organisation, sequence variants and analysis of the role of the human dishevelled 1 gene in late onset Alzheimer's disease		601365	16450	2	2002	Statistical analysis showed there to be no significant association between any of the detected polymorphisms and AD. However, control populations are an intrinsic problem in AD genetic studies and this is to be true for the control group we used as for those used in other studies.	Case:24 Alzheimer's disease patients;Control:24 controls with no evidence of cognitive impairment										
121910	Y	Lung carcinomas	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	20	20q11.2	E2F1	31727149	31737854		Gorgoulis VG et al. 2002	12237873				E2F transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050369			KGB	1869	Hs.96055			The Journal of pathology. 2002 Oct;198(2):142-56	Transcription factor E2F-1 acts as a growth-promoting factor and is associated with adverse prognosis in non-small cell lung carcinomas.		189971	2322	1	2002												
121903	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Liao, H. M.  et al. 2004	15374586				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Chinese		CDC GDPinfo	84062	Hs.571148			Schizophrenia research. 2004 Nov;71(1):185-9	Mutation analysis of the human dystrobrevin-binding protein 1 gene in schizophrenic patients.		607145	16448	2	2004	Thus, in contrast to prior studies reporting positive association of the DTNBP1 gene with schizophrenia in both Irish and German population, our data indicate that the human DTNBP1 is unlikely a major susceptible gene for schizophrenia in Chinese Han patients from Taiwan.	Cohort 94 Chinese Han schizophrenic patients 										
121904		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Li, T.  et al. 2005	16044171				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Chinese, Scottish		CDC GDPinfo	84062	Hs.571148			Molecular psychiatry. 2005 Nov;10(11):1037-44	Identifying potential risk haplotypes for schizophrenia at the DTNBP1 locus in Han Chinese and Scottish populations.		607145	16449	2	2005												
121905		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic	5	5q34	DUSP1	172127706	172130809		Cho ML 2003	12765304				Dual specificity phosphatase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004417.2	Korean		Y Wang	1843	Hs.171695			Lupus. 2003 ;12(5):400-5	Association of homozygous deletion of the Humhv3005 and the VH3-30.3 genes with renal involvement in systemic lupus erythematosus.			2317	1	2003												
121900	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Van Den Bogaert, A.  et al. 2003	14618545				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDPinfo	84062	Hs.571148			American journal of human genetics. 2003 Dec;73(6):1438-43	The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease.		607145	16445	2	2003	Our results suggest that genetic variation in the dysbindin gene is particularly involved in the development of schizophrenia in cases with a familial loading of the disease. This would also explain the difficulty of replicating this association in consecutively ascertained case-control samples, which usually comprise only a small proportion of subjects with a family history of disease.	Control:285/113/272 German (n=285), Polish (n=113), and Swedish (n=272):controls;Case:418/294/142 German (n=418), Polish (n=294), and Swedish (n=142) cases of schizophrenia										
121901	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	6	6p22.3	DTNBP1	15631017	15771250		Zill, P.  et al. 2004	15274041				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDPinfo	84062	Hs.571148			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):55-8	The dysbindin gene in major depression: anassociation study.		607145	16446	2	2004	In conclusion, our results suggest that SNPs in the dysbindin gene are unlikely to play a major role in the pathophysiology of major depression or are in linkage disequilibrium (LD) with a neighboring mutation or gene. Further analysis are needed to confirm these results.	Control:220 healthy controls;Case:293 major depression patients										
121902	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Funke, B.  et al. 2004	15362017				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDPinfo	84062	Hs.571148			American journal of human genetics. 2004 Nov;75(5):891-8	Association of the DTNBP1 locus with schizophrenia in a U.S. population.		607145	16447	2	2004	Our study provides further evidence for a role of the DTNBP1 gene in the genetic etiology of schizophrenia.	Case:524 individuals with schizophrenia or schizoaffective:disorder;Control:573 control subjects										
121897		Schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Williams NM 2004	15066891			haplotype	Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			KGB	84062	Hs.571148			Archives of general psychiatry. 2004 Apr;61(4):336-44	Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1).		607145	6849	1	2004	 DTNBP1 is a susceptibility gene for schizophrenia. Specific risk and protective haplotypes were identified and replicated. Association with educational achievement may suggest protection mediated by IQ, although this needs to be confirmed in an independent data set.											
121898		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	6	6p22.3	DTNBP1	15631017	15771250		Raybould, R.  et al. 2005	15820225				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3		Great Britain	CDC GDPinfo	84062	Hs.571148			Biological psychiatry. 2005 Apr;57(7):696-701	Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1).		607145	10226	2	2005	 Our data suggest that variation at the polymorphisms examined does not make a major contribution to susceptibility to bipolar disorder in general. They are consistent with the possibility that DTNBP1 influences susceptibility to a subset of bipolar disorder cases with psychosis. However, our subset sample is small and the hypothesis requires testing in independent, adequately powered samples.	Control:1,407 ethnically matched controls;Case:726 Caucasian bipolar I patients:UK										
121899	N	schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Morris, D. W.  et al. 2003	12591580				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Irish		CDC GDPinfo	84062	Hs.571148			Schizophrenia research. 2003 Apr;60(3-Feb):167-72	No evidence for association of the dysbindin gene [DTNBP1] with schizophrenia in an Irish population-based study.		607145	16444	2	2003	No evidence was found to suggest an association between the DTNBP1 gene and schizophrenia in our sample. Possible reasons for these findings are discussed.	Case:219 schizophrenia cases;Control:231:controls										
121894		inherited myopathy	OTHER	OTH	Muscular Dystrophies	18	18q12	DTNA	30327278	30725364		Jones KJ 2003	12899872				Dystrobrevin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001390.3			KGB	1837	Hs.643454			Neuromuscular disorders. 2003 Aug;13(6):456-67	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.		601239	2316	1	2003												
121895	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250	0.00068	Schwab SG 2003	12474144	two-locus haplotype and three-locus haplotype and non-transmitted parental haplotype			Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Triad families		KEW	84062	Hs.571148			American journal of human genetics. 2003 Jan;72(1):185-90			607145	6847	1	2003												
121896	N	schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250	n	Morris DW 2003	12591580				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Irish		KEW	84062	Hs.571148			Schizophrenia research. 2003 Apr;60(3-Feb):167-72	No evidence for association of the dysbindin gene [DTNBP1] with schizophrenia in an Irish population-based study.		607145	6848	1	2003	No evidence was found to suggest an association between the DTNBP1 gene and schizophrenia in our sample. Possible reasons for these findings are discussed.	Case:219 schizophrenia cases;Control:231:controls										
121890	Y	pemphigus foliaceus	IMMUNE	IMM	Pemphigus	18	18q12.1	DSG1	27152049	27191391		Ayed MB et al. 2002	12209366				Desmoglein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001942.1		Tunisia	KGB	1828	Hs.2633			Genes and immunity. 2002 Sep;3(6):378-9	Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism.		125670	2315	1	2002	Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.											
121891	Y	pemphigus foliaceus	IMMUNE	IMM	Pemphigus	18	18q12.1	DSG1	27152049	27191391		Ayed, M. B.  et al. 2002	12209366				Desmoglein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001942.1	Tunisian	Tunisia	CDC GDPinfo	1828	Hs.2633			Genes and immunity. 2002 Sep;3(6):378-9	Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism.		125670	10225	2	2002	Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.											
121892	Y	pemphigus foliaceus	IMMUNE	IMM	Pemphigus	18	18q12.1	DSG1	27152049	27191391		Martel, P.  et al. 2001	11294567				Desmoglein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001942.1			CDC GDPinfo	1828	Hs.2633			Genes and immunity. 2001 Feb;2(1):41-3	A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease.		125670	16443	2	2001	Thus, pemphigus foliaceus constitutes another example of autoimmune disease in which the autoantigen polymorphism contributes to disease susceptibility.	Case:36 Caucasian pemphigus foliaceus patients;Control:98 controls not otherwise specified in abstract										
121887	Y	myotonic dystrophy type 1	OTHER	OTH	Spinocerebellar Ataxias	12	12p13.31	ATN1	6903886	6924076		Savic, D.  et al. 2001	11807410	31 CAG repeat allele			atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1			CDC GDPinfo	1822	Hs.143766			Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		125370	12096	2	2001	Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions.	Control:133 healthy control subjects;Case:52 myotonic dystrophy type 1 patients;Control:68 patients with non-triplet neuromuscular diseases caused by point mutations, deletions or:duplications										
121888		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	12	12p13.31	ATN1	6903886	6924076		Brusco, A.  et al. 2004	15148151				atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1	Italian	Italy	CDC GDPinfo	1822	Hs.143766			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		125370	19308	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
121889		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	12	12p13.31	ATN1	6903886	6924076		Culjkovic, B.  et al. 2000	11121205				atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1			CDC GDPinfo	1822	Hs.143766			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		125370	20550	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
121884	Y	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq22	DRP2	100361640	100402573		Hong, L. E.  et al. 2005	15858820				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1			CDC GDPinfo	1821	Hs.159291			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):11-Aug	Dihydropyrimidinase-related protein 2 (DRP-2) gene and association to deficit and nondeficit schizophrenia.		300052	16442	2	2005	We conclude that  the DRP-2 *2236 C allele may mark another polymorphism in DRP-2, or in a nearby gene, that may influence susceptibility to schizophrenia.	Case:117 subjects with schizophrenia;Control:72 subjects without schizophrenia										
121885	Y	schizophrenia	PSYCH	PSY	Spinocerebellar Degenerations|Bipolar Disorder|Schizophrenia	12	12p13.31	ATN1	6903886	6924076		Morris-Rosendahl DJ et al. 1997	9184318	CAG repeats			atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1		France	KGB	1822	Hs.143766			American journal of medical genetics. 1997 May;74(3):324-30	Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: tentative association between B37 and schizophrenia.			2314	1	1997												
121886		carotid artery intima-media thickness; spinocerebellar ataxia; Huntington's disease; myotonic dystrophy	CARDIOVASCULAR	CARD		12	12p13.31	ATN1	6903886	6924076		Popova, S. N.  et al. 2001	11781699				atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1			CDC GDPinfo	1822	Hs.143766			European journal of human genetics. 2001 Nov;9(11):829-35	Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.		125370	8845	2	2001	The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)(5) and (CTG)(11-14), but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied.	Cohort healthy unrelated individuals from nine East European populations (Russia, Ukrainia, and Belarussian) Cohort healthy unrelated individuals from the Caucasian population Adyg Cohort healthy unrelated individuals from the Siberian Yakut 										
121881	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Paranoid	X	Xq22	DRP2	100361640	100402573		Nakata, K.  et al. 2003	12679234				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1		Japan	CDC GDPinfo	1821	Hs.159291			Biological psychiatry. 2003 Apr;53(7):571-6	The human dihydropyrimidinase-related protein 2 gene on chromosome 8p21 is associated with paranoid-type schizophrenia.		300052	16439	2	2003	 Our results suggest that the *2236C allele in the 3'UTR of the DRP-2 gene, or an unknown mutation in linkage disequilibrium with this allele, may reduce the susceptibility to schizophrenia, especially the paranoid subtype.	Case Japanese schizophrenic patients;Control:controls										
121882	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	X	Xq22	DRP2	100361640	100402573		Nakata, K.  et al. 2003	12951196				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1		Japan	CDC GDPinfo	1821	Hs.159291			Neuroscience letters. 2003 Oct;349(3):171-4	No association between the dihydropyrimidinase-related protein 2 (DRP-2) gene and bipolar disorder in humans.		300052	16440	2	2003	The present study did not provide any evidence for a contribution of the DRP-2 gene to susceptibility to BPD.	Case Japanese bipola disorder cases;Control:controls										
121883	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Paranoid	X	Xq22	DRP2	100361640	100402573		Nakata, K.  et al. 2004	15027329				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1			CDC GDPinfo	1821	Hs.159291			Nihon shinkei seishin yakurigaku zasshi. 2004 Feb;24(1):33-7	[The human dihydropyrimidinase-related protein 2 (DRP-2) gene on chromosome 8p21 is associated with paranoid-type schizophrenia]		300052	16441	2	2004	These results suggest that the *2236C allele in the 3'UTR of the DRP-2 gene, or an unknown mutation in linkage disequilibrium with this allele, may reduce the susceptibility to schizophrenia, especially the paranoid subtype.	Case patients with schizophrenia and paranoid-type:schizophrenia;Control:controls										
121877		panic disorder; migraine	PSYCH	PSY	Migraine without Aura|Panic Disorder	4	4p16.1	DRD5	9392700	9394731		Stochino, M. E.  et al. 2003	12967601				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3		Italy	CDC GDPinfo	1816	Hs.380681			Pharmacological research. 2003 Nov;48(5):531-4	Association study between the phenotype migraine without aura-panic disorder and dopaminergic receptor genes.		126453	25964	2	2003	This result does not seem to support, in our limited sample, a common pathological basis, with regard to the dopaminergic system, between migraine and panic. Should migraine and panic disorder share some common mechanisms, these could be sought in neuro-chemical systems other than the dopaminergic one.	Cohort 100 probands suffereing from migraine without aura 										
121878	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Bobb, A. J.  et al. 2005	15717291				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		126453	27411	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
121879		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	4	4p16.1	DRD5	9392700	9394731		Lerman, C.  et al. 2003	12627466				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		126453	27903	2	2003	Review article											
121874		Parkinson's disease; bipolar disorder	NEUROLOGICAL	NEUR		4	4p16.1	DRD5	9392700	9394731		Wang, J.  et al. 2000	11024217				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Zhonghua yi xue yi chuan xue za zhi. 2000 Oct;17(5):348-51	Dopamine receptor gene polymorphisms in Guangzhou Hans.		126453	24324	2	2000	 The polymorphisms of DRD2, DRD3, DRD5 gene in Guangzhou Hans were high and different from those in other populations.	Cohort 141 healthy Guangzhou Hans China 										
121875	N	hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	4	4p16.1	DRD5	9392700	9394731		Wang, J.  et al. 2004	14732464				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126453	24325	2	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121876		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731			16389711				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Encephale. 2005 Jul-Aug;31(4 Pt 1):437-47	[Meta-analysis of candidate genes in attention-deficit hyperactivity disorder]		126453	24326	2	2005												
121871		attention deficit hyperactivity disorder	PSYCH	PSY		4	4p16.1	DRD5	9392700	9394731		Bobb, A. J.  et al. 2004	15457500				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			American journal of medical genetics. 2004 Sep;{}:	Molecular genetic studies of ADHD: 1991 to 2004.		126453	21199	2	2004	All candidate gene approaches continue to face the problem of relatively low power, given modest odds ratios for even the best replicated genes.	Control:controls;Case attention deficit hyperactivity disorder cases										
121872		schizophrenia	PSYCH	PSY	Schizophrenia	4	4p16.1	DRD5	9392700	9394731		Hoogendoorn, M. L.  et al. 2005	15635698				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3	Dutch		CDC GDPinfo	1816	Hs.380681			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):9-Jun	No association between 12 dopaminergic genes and schizophrenia in a large Dutch sample.		126453	21200	2	2005	The results of our comprehensive analysis provide no evidence for association between schizophrenia and 12 dopaminergic genes in a large Dutch sample.	Case:208 schizophrenic patients in a pooled sample;Case:282 Dutch schizophrenic patients;Control:288 unmatched control individuals;Control:585 control individuals										
121873		migraine	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	4	4p16.1	DRD5	9392700	9394731		Shepherd, A. G.  et al. 2002	12047334				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Headache. 2002 May;42(5):346-51	Dopamine receptor genes and migraine with and without aura: an association study.		126453	24323	2	2002	 These findings offer no evidence for allelic association between the tested dopamine receptor gene polymorphisms and the more prevalent forms of migraine and, therefore, do not support a role for these genes in the pathogenesis of the disorder.	Case:275:migraineurs;Control:275 age- and sex-matched individuals free of migraine										
121868	N	nicotine dependence; smoking initiation	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	4	4p16.1	DRD5	9392700	9394731		Sullivan, P. F.  et al. 2001	11353446				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			American journal of medical genetics. 2001 Apr;105(3):259-65	An association study of DRD5 with smoking initiation and progression to nicotine dependence.		126453	16433	2	2001	These data are not consistent with a strong etiological role for DRD5 in the etiology of these complex smoking behaviors.	Cohort 900 population-based sample 	smoking (tobacco)									
121869	Y	dystonia, cervical	NEUROLOGICAL	NEUR	Torticollis|Genetic Predisposition to Disease	4	4p16.1	DRD5	9392700	9394731		Brancati, F.  et al. 2003	12700316				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3		Italy	CDC GDPinfo	1816	Hs.380681			Journal of neurology, neurosurgery, and psychiatry. 2003 May;74(5):665-6	Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia.		126453	16435	2	2003	These results provide further evidence of an association between DRD5 and cervical dystonia, supporting the involvement of the dopamine pathway in the pathogenesis of CD.	Case:104 Italian cervical dystonia patients;Control:104 healthy conttrols										
121870	N	dystonia, focal	NEUROLOGICAL	NEUR	Dystonic Disorders|Genetic Predisposition to Disease	4	4p16.1	DRD5	9392700	9394731		Sibbing, D.  et al. 2003	14581671				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3		France|Germany	CDC GDPinfo	1816	Hs.380681			Neurology. 2003 Oct;61(8):1097-101	Candidate gene studies in focal dystonia.		126453	16437	2	2003	 No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.	Control matched controls;Case:100 German focal idiopathic torsion dystonia patients;Control:100 matched controls;Case:121 French focal idiopathic torsion dystonia patients										
121865	Y	cervical dystonia	OTHER	OTH	Dystonia	4	4p16.1	DRD5	9392700	9394731		Placzek, M. R.  et al. 2001	11459908				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Journal of neurology, neurosurgery, and psychiatry. 2001 Aug;71(2):262-4	Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene.		126453	10222	2	2001	Further studies are required to confirm the finding of a significant association with an allele in the D5 receptor gene in patients with cervical dystonia and to assess whether these alleles are part of distinct haplotypes associated with other polymorphisms imparting a functional effect on the D5 receptor.	Case:100 patients with cervical dystonia;Control:100 not specified in abstract										
121866	Y	blepharospasm	UNKNOWN	UNK	Blepharospasm	4	4p16.1	DRD5	9392700	9394731		Misbahuddin, A.  et al. 2002	11781417				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Neurology. 2002 Jan;58(1):124-6	A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.		126453	10223	2	2002	Allele 2 of a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for this receptor.	Case patients with focal dystonia blepharospasm;Control not specified in abstract										
121867	Y	conduct disorder; oppositional defiant disorder; antisocial personality disorder	PSYCH	PSY	Substance-Related Disorders|Attention Deficit and Disruptive Behavior Disorders|Conduct Disorder|Antisocial Personality Disorder	4	4p16.1	DRD5	9392700	9394731		Vanyukov MM  et al. 2000	11054773				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			American journal of medical genetics. 2000 Oct;96(5):654-8	Antisociality, substance dependence, and the DRD5 gene: a preliminary study.		126453	16432	2	2000	The data suggest involvement of the DRD5 locus in the variation and sexual dimorphism of SD liability and antisociality and in the developmental continuity of antisociality.	Cohort adult European-Americans in a pilot population-based study European-Americans 										
121862		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Lowe N 2004	14732906				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			American journal of human genetics. 2004 Feb;74(2):348-56	Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes.		126453	2311	1	2004												
121863	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	4	4p16.1	DRD5	9392700	9394731	n	Wang J 2004	14732464	978T>C			Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3	Chinese		KGB	1816	Hs.380681	visual hallucinations		Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126453	2312	1	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121864	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p16.1	DRD5	9392700	9394731		Wang, J.  et al. 2001	11445276				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDPinfo	1816	Hs.380681			Neuroscience letters. 2001 Jul;308(1):21-4	Dopamine D5 receptor gene polymorphism and the risk of levodopa-induced motor fluctuations in patients with Parkinson's disease.		126453	10221	2	2001	The results suggest that the DRD5 T978C polymorphism is not associated with the susceptibility to PD, nor with the risk of developing motor fluctuations in PD. Therefore, other polymorphisms that alter the expression of the dopamine receptors should be further studied.	Control:110 unrelated, volunteers or spouses of cases, from same hospital as cases, matched for age, gender, ethnic origin, area of residence;Case:120 subjects with sporadic Parkinson's disease										
121858	Y	schizophrenia	PSYCH	PSY	Schizophrenia	4	4p16.1	DRD5	9392700	9394731		Williams NM et al. 1997	9285966				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			Psychiatric genetics. 1997 ;7(2):83-5	Association between schizophrenia and a microsatellite polymorphism at the dopamine D5 receptor gene.		126453	2307	1	1997												
121859	N	schizophrenia	PSYCH	PSY	Schizophrenia	4	4p16.1	DRD5	9392700	9394731	n	Sobell JL et al. 1995	7633397				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			Human molecular genetics. 1995 Apr;4(4):507-14	The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease.		126453	2308	1	1995												
121860	Y	Cervical dystonia	OTHER	OTH	Dystonia	4	4p16.1	DRD5	9392700	9394731		Placzek MR et al. 2001	11459908				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			Journal of neurology, neurosurgery, and psychiatry. 2001 Aug;71(2):262-4	Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene.		126453	2309	1	2001	Further studies are required to confirm the finding of a significant association with an allele in the D5 receptor gene in patients with cervical dystonia and to assess whether these alleles are part of distinct haplotypes associated with other polymorphisms imparting a functional effect on the D5 receptor.	Case:100 patients with cervical dystonia;Control:100 not specified in abstract										
121854		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Iwata, Y.  et al. 2003	12497608				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Japanese		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		126452	26847	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
121855	Y	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	4	4p16.1	DRD5	9392700	9394731	P = 0.024	Muir WJ 2001	11304828	148 bp allele of DRD5			Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			American journal of medical genetics. 2001 Mar;105(2):152-8			126453	2304	1	2001												
121856	Y	substance abuse	OTHER	OTH	Substance-Related Disorders	4	4p16.1	DRD5	9392700	9394731		Vanyukov MM et al. 1998	9583233				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			Behavior genetics. 1998 Mar;28(2):75-82	An association between a microsatellite polymorphism at the DRD5 gene and the liability to substance abuse: pilot study.		126453	2305	1	1998												
121851		personality disorders	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Munafo, M. R.  et al. 2003	12808427				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2003 May;8(5):471-84	Genetic polymorphisms and personality in healthy adults: a systematic review and meta-analysis.		126452	24322	2	2003	Implications for the design of future association studies of human personality are discussed, including the likely sample sizes that will be required to achieve sufficient power and the potential role of moderating variables such as sex.	Cohort individuals from 46 studies contributed to the analysis 										
121852		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Rybakowski, J. K.  et al. 2005	15785860				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			J Neural Transm. 2005 Nov;112(11):1575-82	An association study of dopamine receptors polymorphisms and the Wisconsin Card Sorting Test in schizophrenia.		126452	25963	2	2005	The results may suggest an association between DRD1 gene polymorphism and performance on PFC test in schizophrenia. Also, the gender-dependent role of DRD2 in this process may be presumed.	Cohort 138 schizophrenic patients 										
121853	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Bobb, A. J.  et al. 2005	15717291				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		126452	26846	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
121848		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Psychotic Disorders	11	11p15.5	DRD4	627304	630703		Chen, C. K.  et al. 2004	15564898				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2004 Dec;14(4):223-6	Association analysis of dopamine D2-like receptor genes and methamphetamine abuse.		126452	24319	2	2004	 Chance fluctuations in the frequency of rare alleles and ascertainment differences in the case and control samples cannot be ruled out. Therefore, further studies of the seven-repeat allele in MAMP abusers and controls should be performed before an association can be established.	Case:154 individuals with methamphetamine-induced psychosis;Control:252 methamphetamine users with no psychosis;Case:416 methamphetamine abusers from a hospital and a detention center:Taipei;Control:435:controls										
121849		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11p15.5	DRD4	627304	630703		Lattuada, E.  et al. 2004	15383158				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The international journal of neuropsychopharmacology. 2004 Dec;7(4):489-93	Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association studywith repeated assessment.		126452	24320	2	2004	We did not observe any significant association for the DRD2 and DRD3 polymorphisms.	Cohort 84 patients with residual schizophrenia 										
121850	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	11	11p15.5	DRD4	627304	630703		Diaz-Anzaldua, A.  et al. 2004	15094788				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Canadian	Quebec	CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2004 Mar;9(3):272-7	Tourette syndrome and dopaminergic genes: afamily-based association study in the French Canadian founder population.		126452	24321	2	2004	These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.	Cohort 110 French Canadian Tourette syndrome patients 										
121845	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dyskinesia, Drug-Induced|Psychoses, Substance-Induced	11	11p15.5	DRD4	627304	630703		Kaiser, R.  et al. 2003	12796525				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neurology. 2003 Jun;60(11):1750-5	L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism.		126452	24316	2	2003	 Genetic variations of the DRD2, DRD3, and DRD4 do not influence the occurrence of L -dopa-induced adverse effects. However, the nine copy allele 40-bp VNTR of the DAT is a predictor for the occurrence of psychosis or dyskinesia in L -dopa-treated patients.	Cohort 183 patients with Parkinson's disease 	L-dopa									
121846		Parkinson's disease; sleep disorders	NEUROLOGICAL	NEUR	Parkinson Disease|Disorders of Excessive Somnolence|Narcolepsy|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Rissling, I.  et al. 2004	15390060				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Movement disorders. 2004 Nov;19(11):1279-84	Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks".		126452	24317	2	2004	No significant association between two other investigated polymorphisms and the phenomenon of "sleep attacks" in PD was observed.	Case:137 Parkinson's disease patients with sudden onset of:sleep;Control:137 Parkinson's disease patients without sudden onset of sleep matched according to drug therapy, disease duration, sex, and age										
121847		bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p15.5	DRD4	627304	630703		Leszczynska-Rodziewicz, A.  et al. 2005	15917720				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Polish		CDC GDPinfo	1815	Hs.99922			Medical science monitor. 2005 Jun;11(6):CR289-295	Lack of association between polymorphisms of dopamine receptors, type D2, and bipolar affective illness in a Polish population.		126452	24318	2	2005	 The results suggests that the studied gene variants of type D2 dopamine receptors are not promising candidate genes for bipolar affective illness. We did not consider the family history of the examined subjects, and also the control group was not psychiatrically screened, which may contribute to the lack of significant results.	Case:339 Polish bipolar patients;Control:366:controls										
121842		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Mochi, M.  et al. 2003	12624717				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neurological sciences. 2003 Feb;23(6):301-5	A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes.		126452	24313	2	2003	Our data iYdicate that MO, but Yot MA, shows sigYificaYt geYetic associatioY with DRD4.	Control:117:controls;Case:93/101 individuals with migraine with aura (n=93) and with migraine without aura (n=101)										
121843		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	11	11p15.5	DRD4	627304	630703		Lerer, B.  et al. 2002	12366879				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		126452	24314	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
121844	N	bipolar disorder; major depressive disorder; rapid cycling mood disorder	PSYCH	PSY	Mood Disorders	11	11p15.5	DRD4	627304	630703		Cusin, C.  et al. 2002	11992560				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.		126452	24315	2	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
121839	N	P300 event-related potentials	NEUROLOGICAL	NEUR		11	11p15.5	DRD4	627304	630703		Tsai, S. J.  et al. 2003	12605102				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2003 Mar;13(1):51-3	Association analysis for dopamine D3 receptor, dopamine D4 receptor and dopamine transporter genetic polymorphisms and P300 event-related potentials for normal young females.		126452	21198	2	2003	 Our negative findings suggest that these genetic polymorphisms do not play a major role in the modulation of P300 event-related potentials.	Cohort 120 normal young Han-Chinese females 										
121840		longevity	AGING	AGE		11	11p15.5	DRD4	627304	630703		Stessman, J.  et al. 2005	15621215				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		126452	24311	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
121841		nicotine dependence; cotinine	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Huang, S.  et al. 2005	16272956				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Pharmacogenetics and genomics. 2005 Dec;15(12):839-50	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.		126452	24312	2	2005	 CYP2A6 haploinsufficiency increases likelihood of continuing smoking in teenagers. We hypothesize an explanatory 'occupancy' model to explain why haploinsufficiency results in faster progression to nicotine dependence, but lower subsequent consumption.											
121836		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11p15.5	DRD4	627304	630703		Segman, R. H.  et al. 2003	14583797				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The pharmacogenomics journal. 2003 ;3(5):277-83	Association of dopaminergic and serotonergic genes with tardive dyskinesia in patients with chronic schizophrenia.		126452	21195	2	2003	No significant associations were found. Within the limitations imposed by the size of the clinical sample, these findings suggest that the above polymorphic loci do not contribute significantly to risk for TD. Further examination of loci that yielded positive results at a trend level and investigation of other candidate genetic loci coding for antipsychotic drug targets is warranted.	Case:59 schizophrenic patients with tardive dyskinesia:patients;Control:63 schizophrenic patients without tardive dyskinesia										
121837		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11p15.5	DRD4	627304	630703		Chong, S. A.  et al. 2003	12497614				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	China	CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):51-4	Polymorphisms of dopamine receptors and tardive dyskinesia among Chinese patients with schizophrenia.		126452	21196	2	2003	Our results did not indicate that the D2 genotype has a role in the pathophysiology of TD in Chinese patients with schizophrenia. The association of TD with the serine/serine genotype of the DRD3 may be an epiphenomenon of patients with a subtype of schizophrenia who had more exposure to neuroleptics.	Case:117 Chinese patients with tardive dyskinesia;Control:200 patients without tardive dyskinesia										
121838		depression	PSYCH	PSY	Obsessive-Compulsive Disorder|Personality Disorders	11	11p15.5	DRD4	627304	630703		Joyce, P. R.  et al. 2003	12860355				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatry research. 2003 Jul;119(2-Jan):10-Jan	Polymorphisms of DRD4 and DRD3 and risk of avoidant and obsessive personality traits and disorders.		126452	21197	2	2003	Our results suggest that genetic polymorphisms of DRD4 and DRD3 may well be associated with personality traits, and that conflicting findings to date may arise from the problem of phenotype definition.	Cohort 145 depressed patients 										
121833		personality disorders	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Lee, H. J.  et al. 2003	12898574				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):44-9	D2 and D4 dopamine receptor gene polymorphisms and personality traits in a young Korean population.		126452	21192	2	2003	These results, thus, confirmed the previous findings in which the long repeats of the DRD4-exon III polymorphism are related to NS personality trait, and also suggested that the DRD2 less frequent alleles were also associated with the reward-dependent trait.	Cohort 243 young alcohol- and drug-na????ve Koreans who were blood-unrelated Korea 										
121834	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p15.5	DRD4	627304	630703		Serretti, A.  et al. 2001	11728608				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatry research. 2001 Nov;104(3):195-203	No association between dopamine D(2) and D(4) receptor gene variants and antidepressant activity of two selective serotonin reuptake inhibitors		126452	21193	2	2001	The investigated DRD2 and DRD4 gene variants therefore do not seem to play a major role in the antidepressant activity of SSRIs, at least in the present sample.	Cohort 364 inpatients affected by a major depressive episode treated with fluvoxamine, 300 mg/day (n=266), or paroxetine, 20-40 mg/day (n=98). 	fluvoxamine paroxetine									
121835		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Hopfer, C. J.  et al. 2005	15845322				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Drug and alcohol dependence. 2005 May;78(2):187-93	Genetic influences on quantity of alcohol consumed by adolescents and young adults.		126452	21194	2	2005	 Genetic influence on drinking behavior was common in adolescents longitudinally assessed 1 year apart, but was less correlated between these adolescents and their assessment as young adults at a subsequent time point. Polymorphisms in genes of the dopaminergic system appear to influence variation in drinking behavior.	Cohort 4,432 youth assessed during adolescence (mean age of 16) and then 1 and 6 years later 										
121830		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703			16389711				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Encephale. 2005 Jul-Aug;31(4 Pt 1):437-47	[Meta-analysis of candidate genes in attention-deficit hyperactivity disorder]		126452	21189	2	2005												
121831		hormone disturbance	METABOLIC	MET		11	11p15.5	DRD4	627304	630703		Jonsson, E. G.  et al. 2004	15102340				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			BMC psychiatry [electronic resource]. 2004 Mar;4:4	Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.		126452	21190	2	2004	 The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.	Cohort 90 healthy volunteers 										
121832	N	methamphetamine abuse	PSYCH	PSY	Amphetamine-Related Disorders	11	11p15.5	DRD4	627304	630703		Tsai, S. J.  et al. 2002	11901357				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	China	CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2002 Mar;12(1):29-33	No association for D2 and D4 dopamine receptor polymorphisms and methamphetamine abuse in Chinese males.		126452	21191	2	2002	No significant difference was demonstrated for genotype or allele frequency when comparing MAP-dependent and control cases for the DRD2 TaqI and the DRD4 gene exon III VNTR polymorphisms, suggesting that these two polymorphisms do not play major roles in MAP dependence for our sample of Chinese males.	Case methamphetamine-dependent cases;Control controls not otherwise specified in abstract										
121827		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Zhang, M.  et al. 2003	12579508				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		CDC GDPinfo	1815	Hs.99922			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):69-71	[Associations between six functional genes and schizophrenia]		126452	21186	2	2003	 The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.	Control:controls;Case:67 Chinese Han schizophrenic patients										
121828		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703			16281377				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(10):35-41	[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives]		126452	21187	2	2005												
121829		shyness	UNKNOWN	UNK	Genetic Predisposition to Disease|Anxiety Disorders	11	11p15.5	DRD4	627304	630703		Arbelle, S.  et al. 2003	12668354				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The American journal of psychiatry. 2003 Apr;160(4):671-6	Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism.		126452	21188	2	2003	 This study provisionally identifies a common genetic polymorphism, 5-HTTLPR, that modestly (effect size=7%) contributed to greater shyness scores in a nonclinical group of second-grade students. These first findings may be relevant to previous reports that have shown an association between the 5-HTTLPR long form and obsessive-compulsive disorder and autism.	Cohort 98 second-grade children 										
121823		mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.5	DRD4	627304	630703			16319504				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychobiology. 2005 Nov;53(1):16-Sep	Temperament and Character in Mood Disorders:Influence of DRD4, SERTPR, TPH and MAO-A Polymorphisms		126452	16430	2	2005												
121824		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Elovainio, M.  et al. 2005	15312696				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Biological psychology. 2005 Jan;68(1):79-86	Does the level of LDL cholesterol moderate a relationship between DRD4 and novelty seeking?		126452	21183	2	2005	Our findings suggest that the genetic determination of temperament may be dependent on biological factors, such as LDL cholesterol.		cholesterol									
121826		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	11	11p15.5	DRD4	627304	630703		Li, T.  et al. 2004	15274053				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		Taiwan	CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):120-4	Association analysis of the DRD4 and COMT genes in methamphetamine abuse.		126452	21185	2	2004	We conclude that  genetic variation in the dopamine system may encode an additive effect on risk of becoming a methamphetamine abuser.	Case:416 Han Chinese methamphetamine abusing subjects:Taiwan;Control:435 normal controls										
121819		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			16152802			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Russian		CDC GDPinfo	1815	Hs.99922			Genetika. 2005 Jul;41(7):966-72	[Polymorphic markers of the dopamine D4 receptor gene promoter region and personality traits in mentally healthy individuals from the Russian population]		126452	16424	2	2005												
121820		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Todd, R. D.  et al. 2005	16178930				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		United States	CDC GDPinfo	1815	Hs.99922			Journal of child psychology and psychiatry, and allied disciplines. 2005 Oct;46(10):1067-73	Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes.		126452	16425	2	2005	 Use of alternative population-based defined ADHD subtypes may help resolve some of the variable results presented for candidate gene association studies in ADHD.											
121821	N	attention deficit hyperactivity disorder	PSYCH	PSY	Mental Disorders|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Meulen, E. M.  et al. 2005	16178931				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Dutch		CDC GDPinfo	1815	Hs.99922			Journal of child psychology and psychiatry, and allied disciplines. 2005 Oct;46(10):1074-80	High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD.		126452	16426	2	2005	 The sibling correlation may indicate a familial clustering of methylphenidate response. This response is possibly associated with the presence of one or two alleles at the DRD4-7R locus, but not with DAT1-10R homozygosity in the Dutch population.											
121815		novelty seeking	PSYCH	PSY	Alcoholic Intoxication	11	11p15.5	DRD4	627304	630703		Lahti, J.  et al. 2005	15900228				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2005 Jun;15(2):133-9	Novelty seeking: interaction between parentalalcohol use and dopamine D4 receptor gene exon III polymorphism over 17 years.		126452	16420	2	2005	These results provide preliminary information on gene-environment interaction on the temperament trait of novelty seeking and may partly explain the heterogeneity of findings concerning the association between DRD4 polymorphisms and novelty seeking.	Cohort 150 individuals as a subsample of a population-based sample of children and adolescents (n=2149) examined in 1980 and 1983 on parental alcohol use and rearing practices 1997 	parental alcohol use									
121816		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Bellgrove, M. A.  et al. 2005	15909295				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):81-6	DRD4 gene variants and sustained attention in attention deficit hyperactivity disorder (ADHD):effects of associated alleles at the VNTR and -521 SNP.		126452	16421	2	2005	Our results suggest dissociable effects of the "associated alleles" of DRD4 gene variants on	Cohort 54 attention deficit hyperactivity disorer probands 										
121818	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Brookes, K. J. = Bsc et al. 2005	16143039				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Taiwanese	Taiwan	CDC GDPinfo	1815	Hs.99922			BMC medical genetics [electronic resource]. 2005 Sep;6:31	No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study.		126452	16423	2	2005	 The DRD4 gene markers investigated were not found to be associated with ADHD in this Taiwanese sample. Further work in Taiwanese and other Asian populations will therefore be required to establish whether the reports of association of DRD4 genetic variants in Caucasian samples can be generalised to Asian populations.											
121812		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Strobel, A.  et al. 2004	15640766				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuroreport. 2004 Oct;15(15):2411-5	Dopamine D4 receptor exon III genotype influence on the auditory evoked novelty P3.		126452	16416	2	2004	These findings suggest that the DRD4 exon III polymorphism influences the processing of novelty and that this influence depends on tonic dopaminergic activity.	Cohort 46 healthy volunteers 										
121813		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Durston, S.  et al. 2005	15724142				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2005 Jul;10(7):678-85	Differential effects of DRD4 and DAT1 genotype on fronto-striatal gray matter volumes in a sample of subjects with attention deficit hyperactivity disorder, their unaffected siblings, and controls.		126452	16417	2	2005	This demonstrates that, by constraining our investigations by prior knowledge of gene expression, including samples in which the distribution of phenotypic variance is wide and under heritable influences, and by using intermediate phenotypes, such as neuroimaging, we may begin to map out the pathways by which genes influence behavior.	Case subjects with attention deficit hyperactivity:disorder;Control:controls										
121814		cognitive function	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Dreisbach, G.  et al. 2005	15839794				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Behavioral neuroscience. 2005 Apr;119(2):483-90	Dopamine and cognitive control: the influence ofspontaneous eyeblink rate and dopamine gene polymorphisms on perseveration and distractibility.		126452	16418	2	2005	Results converge with neuropsychological models that suggest a modulatory role of prefrontal dopaminergic activity for processes of cognitive control.	Cohort 72 young adults 										
121809	Y	weight gain	METABOLIC	MET	Weight Gain|Bulimia|Seasonal Affective Disorder	11	11p15.5	DRD4	627304	630703		Levitan, R. D.  et al. 2004	15522250				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Biological psychiatry. 2004 Nov;56(9):665-9	The dopamine-4 receptor gene associated with binge eating and weight gain in women with seasonal affective disorder: an evolutionary perspective.		126452	16412	2	2004	 Pending replication in other samples, these results point to a genetic factor that could help in the early identification and treatment of women at higher risk for seasonal weight gain associated with binge eating behavior. At a theoretic level, the current results suggest a novel link between evolutionary models of seasonal weight gain on the one hand and the DRD4 gene on the other.	Cohort 131 women with winter seasonal affective disorder 										
121810	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Leung, P. W.  et al. 2004	15578612				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):54-6	Dopamine receptor D4 (DRD4) gene in Han Chinese children with attention-deficit/hyperactivity disorder (ADHD): increased prevalence of the2-repeat allele.		126452	16414	2	2004	We hypothesize that an increased frequency of any non-4R allele may define the association of the DRD4 gene with ADHD that holds across ethnicity. The present findings, however, obtained with a small ADHD sample size, should be replicated.	Control ethnically-matched controls;Case:32 Han Chinese children with a confirmed ADHD diagnosis and normal IQ who were:methylphenidate-responders										
121811	Y	schizophrenia; bipolar disorder; psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703		Chotai, J.  et al. 2004	15627807				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychobiology. 2005 ;51(1):9-Mar	Interaction between the tryptophan hydroxylase gene and the serotonin transporter gene in schizophrenia but not in bipolar or unipolar affective disorders.		126452	16415	2	2004	Thus, an interaction between TPH and 5-HTTLPR genes constitutes susceptibility to schizophrenia, thereby yielding apparent relationships between the major psychiatric symptomatology scores and genotype combinations in samples that are obtained by pooling schizophrenia with other diagnostic categories.	Control:241:controls;Case:814 patients comprising 114 with schizophrenia, 416 with bipolar affective disorder and 284 with unipolar affective disorder										
121806		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		El-Faddagh, M.  et al. 2004	15206004				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			J Neural Transm. 2004 Jul;111(7):883-9	Association of dopamine D4 receptor (DRD4) gene with attention-deficit/hyperactivity disorder (ADHD) in a high-risk community sample: alongitudinal study from birth to 11 years of age		126452	16406	2	2004	 These findings provide additional evidence for the role of the dopamine D4 receptor in ADHD during the course of child development.	Cohort 265 individuals from a high-risk community sample who have been followed from birth to 11 years of age 										
121807	N	psychoses	PSYCH	PSY	Psychotic Disorders	11	11p15.5	DRD4	627304	630703		Serretti, A.  et al. 2004	15364409				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	German		CDC GDPinfo	1815	Hs.99922			Neuroscience letters. 2004 Sep;368(3):269-73	DRD4 exon 3 variants are not associated with symptomatology of major psychoses in a German population.		126452	16409	2	2004	Our present results, obtained in an independent German sample, did not confirm the association between DRD4 variants and delusional symptomatology. However it should be considered that the original sample included a much higher rate of mood disorders and this could partially explain the discrepancy.	Cohort 394 subjects, affected by bipolar disorder (n = 32), schizoaffective disorder (n = 45), and schizophrenia (n = 317) Germany 										
121808		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Frank, Y.  et al. 2004	15519116				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Pediatric neurology. 2004 Nov;31(5):345-8	Dopamine D4 receptor gene and attention deficit hyperactivity disorder.		126452	16411	2	2004	There was no significant association between dopamine D4 receptor gene alleles, Novelty Seeking traits, and the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition diagnosis of attention deficit hyperactivity disorder-Hyperactive impulsive type or Inattentive type.	Control:24 control subjects;Case:81 children with attention deficit hyperactivity:disorder										
121803	Y	obesity; affective disorder	METABOLIC	MET	Obesity|Body Weight|Hyperphagia|Attention Deficit Disorder with Hyperactivity|Seasonal Affective Disorder	11	11p15.5	DRD4	627304	630703		Levitan, R. D.  et al. 2003	14560322				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychopharmacology. 2004 Jan;29(1):179-86	Childhood inattention and dysphoria and adult obesity associated with the dopamine D4 receptor gene in overeating women with seasonal affective disorder.		126452	16400	2	2003	This developmental course may reflect different manifestations of the same underlying vulnerability related to central dopamine dysfunction. Given the possibility of population stratification when studying genotype/phenotype relationships, future use of genomic controls and replication of our findings in other overeating and/or ADD populations are needed to confirm these initial results.	Cohort 108 women with winter SAD and carbohydrate craving/weight gain 										
121804		novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Keltikangas-Jarvinen, L.  et al. 2003	14569271				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2004 Mar;9(3):308-11	Nature and nurture in novelty seeking.		126452	16401	2	2003	The genotype had no effects on NS when the childhood environment was more favorable. Although the results are preliminary, pending replication, they nevertheless provide important information on the long-term effects of nurture and nature on NS temperament.	Cohort 92 children from a representative population sample of healthy young Finns (n=2149) 	socio-emotional environment									
121805	N	personality disorders	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Ronai, Z.  et al. 2004	15048652			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):74-8	A novel A/G SNP in the -615th position of the dopamine D4 receptor promoter region as a source of misgenotyping of the -616 C/G SNP		126452	16403	2	2004	Using these methods, no association was found between the -616 C/G SNP and personality factors of Cloninger's temperament and character inventory (N = 153) in our population.	Cohort 153 healthy Caucasian individuals 										
121800		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Jonsson, E. G.  et al. 2003	12648742				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Schizophrenia research. 2003 May;61(1):111-9	Dopamine D4 receptor gene (DRD4) variants and schizophrenia: meta-analyses.		126452	16397	2	2003	Meta-analysis of the DRD4 promoter variant (-521C/T tentatively supported an association with schizophrenia. A significant role of the -521C/T variant is supported by functional investigations, where a significant effect on transcriptional efficiency was observed (Okuyama et al., 1999). Although comprising more than 1400 subjects from two different ethnical groups, the meta-analysis included only three separate studies. Therefore the association must be regarded as preliminary. Further studies of this DRD4 variant are warranted.	Case schizophenic cases;Control:controls										
121801	N	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	11	11p15.5	DRD4	627304	630703		Hemmings, S. M.  et al. 2003	12650952				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			European neuropsychopharmacology. 2003 Mar;13(2):93-8	Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.		126452	16398	2	2003	Although no statistically significant genotypic or allelic associations were detected, the data yielded interesting preliminary results that warrant further discussion and investigation.	Control:129 control individuals;Case:71 obsessive compulsive disorder patients in the genetically homogeneous Afrikaner population										
121802		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Hutchison, K. E.  et al. 2003	12888781				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychopharmacology. 2003 Oct;28(10):1882-8	Olanzapine reduces craving for alcohol: a DRD4 VNTRpolymorphism by pharmacotherapy interaction.		126452	16399	2	2003	The findings indicated that olanzapine reduces craving for alcohol at baseline for both DRD4 S and DRD4 L individuals, but only reduces craving after exposure to alcohol cues and after a priming dose of alcohol for DRD4 L individuals.	Cohort heav social drinkers 	olanzapine									
121796		attention-deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill, J. S.  et al. 2002	11986982				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(4):383-91	The dopamine D4 receptor and the hyperactivity phenotype: a developmental-epidemiological study.		126452	16391	2	2002	We found no evidence to support this association.	Cohort 1037 a large, unselected birth cohort 										
121797	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Bookman, E. B.  et al. 2002	12192624			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	African Americans		CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(7):786-9	DRD4 promoter SNPs and gender effects on Extraversion in African Americans		126452	16392	2	2002	This study provides further evidence that genetic variation within the DRD4 promoter and gender differences contribute to variation in Novelty Seeking behaviors such as Extraversion.	Cohort 71 unrelated African Americans 										
121798		novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Schinka, J. A.  et al. 2002	12210280				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2002 Aug;114(6):643-8	DRD4 and novelty seeking: results of meta-analyses.		126452	16393	2	2002	Results provided no support for a relationship between NS and the presence of the 7-repeat allele of the VNTR polymorphism. A small positive effect, however, was found for long repeats of the same polymorphism. The most promising findings were obtained for the relationship with the -521 C/T promoter polymorphism, for which the analysis showed an effect size of 0.32. The positive findings are consistent with a polygenic model of influence on fundamental personality dimensions.											
121793	Y	temperament	OTHER	OTH		11	11p15.5	DRD4	627304	630703		Auerbach, J. G.  et al. 2001	11583250			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of child psychology and psychiatry, and allied disciplines. 2001 Sep;42(6):777-83	The association of the dopamine D4 receptor gene (DRD4) and the serotonin transporter promoter gene (5-HTTLPR) with temperament in 12-month-old infants.		126452	16387	2	2001	The infants were observed in a series of standard temperament episodes that elicited fear, anger, pleasure, interest, and activity. The implications and limitations of these findings are discussed.	Cohort 61 infants aged 12 months 										
121794	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Jonsson, E. G.  et al. 2002	11803441				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(1):18-20	No association between dopamine D4 receptor gene variants and novelty seeking.		126452	16389	2	2002	Our data do not provide evidence for associations between the two DRD2 polymorphisms and Novely Seeking. Several reasons may account for our failure to replicate the reported associations. First, our sample may not have provided sufficient power to detect	Cohort 276 unrelated healthy volunteers of German ethnicity (205 women and 71 men) 										
121795	Y	disorganized attachment behavior	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Lakatos, K.  et al. 2002	11803443				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(1):27-31	Further evidence for the role of the dopamine D4 receptor (DRD4) gene in attachment disorganization:interaction of the exon III 48-bp repeat and the -521 C/T promoter polymorphisms.		126452	16390	2	2002	In the presence of both risk alleles the odds ratio for disorganized attachment increased tenfold. This result supports our previous postulation that the DRD4 gene plays a role in the development of attachment behavior in low-risk, non-clinical populations.	Cohort infants from a non-clinical low-risk population 										
121790		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill, J.  et al. 2001	11443530				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2001 Jul;6(4):440-4	Attention deficit hyperactivity disorder (ADHD) and the dopamine D4 receptor gene: evidence ofassociation but no linkage in a UK sample.		126452	16384	2	2001	We conclude that  the case-control findings are likely to be falsely positive, resulting from genetic stratification. However we can not rule out alternative explanations of low statistical power and gene-environment correlation.	Control:189 not specified in abstract;Case:32 attention deficit hyperactivity disorder patients										
121791		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Roman, T.  et al. 2001	11449401				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2001 Jul;105(5):471-8	Attention-deficit hyperactivity disorder: a studyof association with both the dopamine transporter gene and the dopamine D4 receptor gene.		126452	16385	2	2001	These results add to the group of studies that together suggest a small effect of these genes in the susceptibility to ADHD	Control ethnically matched control sample;Case:81 Attention-deficit hyperactivity disorder children and adolescents and their parents:Brazil										
121792	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Jonsson, E. G.  et al. 2001	11496369			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2001 Aug;105(6):525-8	No association between a promoter dopamine D(4) receptor gene variant and schizophrenia.		126452	16386	2	2001	The present results do not support a major role for DRD4 in the etiology of schizophrenia among Caucasians from Sweden.	Case:132 Caucasian patients with schizophrenia:Sweden;Control:388 Caucasian control subjects:Sweden										
121787	Y	personality trait of spritual acceptance	PSYCH	PSY	Substance-Related Disorders	11	11p15.5	DRD4	627304	630703		Comings, D. E.  et al. 2000	11324944				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2000 Dec;10(4):185-9	The DRD4 gene and the spiritual transcendence scale of the character temperament index.		126452	16381	2	2000	These results suggest the DRD4 gene may play a role in the personality trait of spiritual acceptance. This may be a function of the high concentration of the dopamine D4 receptor in the cortical areas, especially the frontal cortex.	Cohort 200 male subjects (81 college students and 119 subjects from an addiction treatment unit) 										
121788	Y	schizophrenia; depressive disorder, major; bipolar disorder; delusional disorder; psychosis	PSYCH	PSY	Psychotic Disorders|Schizophrenia, Paranoid	11	11p15.5	DRD4	627304	630703		Serretti, A.  et al. 2001	11353451				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2001 Apr;105(3):283-90	DRD4 exon 3 variants associated with delusional symptomatology in major psychoses: a study on 2,011affected subjects.		126452	16382	2	2001	This analysis in an enlarged sample suggests that DRD4*Long alleles exert a small but significant influence on the delusional symptomatology in subjects affected by major psychoses.	Case:2011 inpatients affected by bipolar disorder (811), major depressive disorder (635), schizophrenia (419), delusional disorder (104), psychotic:disorder (42);Control:601 healthy controls										
121789	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Schmidt, L. A.  et al. 2001	11409696				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2001 Mar;11(1):25-9	Association of DRD4 with attention problems in normal childhood development.		126452	16383	2	2001	Our results show that the DRD4 gene influences normal as well as pathological attention processes, and the results highlight the utility of longitudinal measurements in psychiatric genetics.	Cohort non-clinically selected sample of children for whom maternal reports of attention problems were available at 4 and 7 years of age. 										
121783		personality disorders	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			16316914				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Indian		CDC GDPinfo	1815	Hs.99922			Annals of human biology. 2005 Sep-Oct;32(5):574-84	Indian ethnic populations characterized by dopamine (D4) receptor VNTR polymorphism		126452	10217	2	2005	 The allele frequency estimates for DRD4 provided here will contribute towards developing an informative database for this functionally relevant locus. This will prove useful when studying the association between genetic factors and pathogenesis of disease in Indian populations and will address the concern of biased results of association due to population admixtures.											
121784	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Bhaduri, N.  et al. 2005	16331654				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Indian		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):61-6	Association of dopamine D4 receptor (DRD4) polymorphisms with attention deficit hyperactivity disorder in Indian population		126452	10218	2	2005												
121786	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703		Bau, C. H.  et al. 2001	11244477				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2001 Jan;6(1):9-Jul	DRD4 and DAT1 as modifying genes in alcoholism:interaction with novelty seeking on level of alcohol consumption		126452	16380	2	2001	The possible presence of an interaction effect between DRD4 and DAT1 gnotypes with novelty seeking on the level of consumption suggests that these genotypes may increase the alcohol-seeking behavior in high novelty seeking individuals, supporting that model.	Control:112:controls;Case:114:alcoholics										
121779		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11p15.5	DRD4	627304	630703		Szilagyi, A.  et al. 2005	16167465			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychopharmacologia Hungarica. 2005 Mar;7(1):28-33	Combined effect of promoter polymorphisms in the dopamine D4 receptor and the serotonin transporter genes in heroin dependence.		126452	10213	2	2005												
121780	Y	alcohol abuse; blood pressure, arterial	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Sen, S.  et al. 2005	16182111				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of hypertension. 2005 Sep;18(9 Pt 1):1206-10	Association between a dopamine-4 receptor polymorphism and blood pressure.		126452	10214	2	2005	 In this white population, the long variant of the DRD4 gene is associated with a 3-mm Hg higher systolic and 2-mm Hg higher diastolic BP.											
121782		schizophrenia; personality traits	PSYCH	PSY	Personality Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703			16252386				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(9):42-7	[Dopamine receptor DRD4 gene polymorphism and its association with schizophrenia spectrum disorders and personality traits of patients]		126452	10216	2	2005												
121775		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	11	11p15.5	DRD4	627304	630703		Laucht, M.  et al. 2005	15843770				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of the American Academy of Child and Adolescent Psychiatry. 2005 May;44(5):477-84	Association of the DRD4 exon III polymorphism with smoking in fifteen-year-olds: a mediating role fornovelty seeking?		126452	10208	2	2005	 These findings highlight the importance of considering the mechanisms underlying the association between genetic factors and tobacco use separately by gender and, possibly, by developmental period.	Cohort 384 children from an original birth cohort (born 1986-1988) from a high-risk community sample 										
121777		schizophrenia	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Zhao, A.  et al. 2005	16086296				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		CDC GDPinfo	1815	Hs.99922			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):470-2	[Distribution of genotype and allele frequencies of dopamine D4 receptor gene 48 bp variable number tandem repeat polymorphism in Chinese Han population in Hunan]		126452	10211	2	2005	 The distributions of allele of DRD4 gene exhibit regional and ethnic heterogeneity.											
121778		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit and Disruptive Behavior Disorders	11	11p15.5	DRD4	627304	630703		Kim, Y. S.  et al. 2005	16165273				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean	Korea	CDC GDPinfo	1815	Hs.99922			Neuroscience letters. 2005 Dec;390(3):176-81	Family-based association study of DAT1 and DRD4 polymorphism in Korean children with ADHD.		126452	10212	2	2005												
121772		suicide	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Zalsman, G.  et al. 2004	15565493				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			J Neural Transm. 2004 Dec;111(12):1593-603	DRD4 receptor gene exon III polymorphism in inpatient suicidal adolescents.		126452	10204	2	2004	The relevance of this finding to increased depression severity in suicidal adolescents, if replicated, is as yet unclear.	Control:167 healthy control subjects;Case:69 inpatient adolescents who recently attempted:suicide										
121773	Y	cholesterol, HDL; triglycerides; personality trait	METABOLIC	MET		11	11p15.5	DRD4	627304	630703		Elovainio, M.  et al. 2004	15627814				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychobiology. 2005 ;51(1):53-8	Relationship between DRD4 polymorphism and lipid metabolism: what is the role of novelty seeking?		126452	10205	2	2004	 Our preliminary findings suggest that there is a link between the dopaminergic receptor gene DRD4 and lipid metabolism, but this link is dependent on gender.	Cohort 125 subjects from the ongoing population-based study of 'Cardiovascular Risk in Young Finns' 1997 										
121774	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Hamarman, S.  et al. 2004	15662148				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of child and adolescent psychopharmacology. 2004 ;14(4):564-74	Dopamine receptor 4 (DRD4) 7-repeat allele predicts methylphenidate dose response in children with attention deficit hyperactivity disorder: apharmacogenetic study.		126452	10206	2	2004	 Children with ADHD possessing the DRD4 7R allele require higher doses of methylphenidate for symptom improvement and symptom normalization. This pharmacogenetic study demonstrates that the 7-repeat allele of the DRD4 gene VNTR polymorphism correlates with treatment outcomes.	Cohort 45 children, aged 7-15 years, with attention deficit hyperactivity disorder 	methylphenidate									
121769		schizophrenia	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			15341274				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Russian		CDC GDPinfo	1815	Hs.99922			Genetika. 2004 Jun;40(6):835-40	[Analysis of the DRD4 gene polymorphism in populations of Russia and neighboring countries]		126452	10200	2	2004	The data obtained can serve as the basis for the investigation of the possible role of the DRD4 alleles as the risk factors for the development of alcoholism and other types of addictions.	Cohort 544 individuals living in Russia (Russians, Bashkirs, Tatars, and Mordovians) and in the neighboring countries (Kazakhs and Ukrainians) Russia, Kazakstan and Ukrane 										
121770	N	disorganized attachment	PSYCH	PSY	Reactive Attachment Disorder	11	11p15.5	DRD4	627304	630703		Bakermans-Kranenburg, M.  et al. 2004	15513263	( -521 C/T )		promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Attachment & human development. 2004 Sep;6(3):211-8; discussion 219-22	No association of the dopamine D4 receptor (DRD4) and -521 C/T promoter polymorphisms with infant attachment disorganization		126452	10202	2	2004	Even when we combined our sample with the Lakatos sample, the interaction effect of the DRD4 and -521 C/T polymorphisms on disorganized attachment was absent.	Cohort 132 infants 										
121771	N	personality disorders	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Becker, K.  et al. 2004	15517431				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			J Neural Transm. 2005 Jun;112(6):847-58	The dopamine D4 receptor gene exon III polymorphism is associated with novelty seeking in 15-year-old males from a high-risk community sample.		126452	10203	2	2004	Males in the DRD4-7r allele group scored significantly higher on the NS (p = .002) and the harm avoidance (p = .045) scales than males without this allele. In females no association with temperament was observed. This association could not be explained by the presence of either an attention-deficit/hyperactivity disorder (ADHD) or a DRD4 by ADHD interaction.	Cohort 303 15-year-old adolescents (144 males, 159 females) 										
121766	Y	personality disorders	PSYCH	PSY	Obsessive-Compulsive Disorder	11	11p15.5	DRD4	627304	630703		Szekely, A.  et al. 2004	15048658				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):106-10	Human personality dimensions of persistence and harm avoidance associated with DRD4 and 5-HTTLPR polymorphisms		126452	10197	2	2004	These results are discussed in relation to the recent findings on infant temperament. Association between the DRD4 7-repeat allele and Persistence can be theoretically linked to the 7-repeat allele as a risk factor for attention deficit hyperactivity disorder.	Cohort 157 ethnically homogeneous Caucasians 										
121767		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Qian, Q.  et al. 2004	15211638				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	China	CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):84-9	Family-based and case-control association studies of DRD4 and DAT1 polymorphisms in Chinese attention deficit hyperactivity disorder patients suggest long repeats contribute to genetic risk for the disorder		126452	10198	2	2004	he long-repeat alleles of DRD4 (ranging from 4 to 6 repeats) and DAT1 (ranging from 11 to 12 repeats), were present more frequently in ADHD probands than controls (P < 0.05), although there was no significant allelic association when the alleles were analyzed separately from each other and there findings were not supported by within family tests of association. An exploratory stratification by gender suggests that long-repeat alleles of DRD4 and DAT1 may increase the risk for ADHD in Han Chinese children.	Control:226:controls;Case:340 Han Chinese attention deficit hyperactivity disorder cases										
121768		hyperkinetic conduct disorder	OTHER	OTH	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity|Conduct Disorder	11	11p15.5	DRD4	627304	630703		Seeger, G.  et al. 2004	15288435				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuroscience letters. 2004 Aug;366(3):282-6	Gene-environment interaction in hyperkinetic conduct disorder (HD + CD) as indicated by season of birth variations in dopamine receptor (DRD4) gene polymorphism.		126452	10199	2	2004	Supporting this hypothesis, we found an interaction between the seasons of birth and the expression of the DRD4 candidate gene in children with HD + CD as well as in controls, which differ significantly from each other. Depending on the season of birth, children carrying the DRD4*7R allele showed different relative risks for developing HD + CD.	Control healthy controls;Case childen with hyperkinetic disorder and conduct:disorder	season of birth									
121763		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Xing, Q.  et al. 2003	14623368				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		China	CDC GDPinfo	1815	Hs.99922			Schizophrenia research. 2003 Dec;65(1):14-Sep	Association analysis of polymorphisms in the upstream region of the human dopamine D4 receptor gene in schizophrenia.		126452	10194	2	2003	This might cause the alteration of the transcriptional regulation of the DRD4 gene, as the consensus sequences of binding sites for several known transcription factors are involved in this region.	Control:206 healthy controls;Case:210 schizophrenic patients										
121764	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Langley, K.  et al. 2004	14702261				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The American journal of psychiatry. 2004 Jan;161(1):133-8	Association of the Dopamine D(4) Receptor Gene 7-Repeat Allele With Neuropsychological Test Performance of Children With ADHD		126452	10195	2	2004	 In children with ADHD, possession of the DRD4 7-repeat allele appears to be associated with an inaccurate, impulsive response style on neuropsychological tasks that is not explained by ADHD symptom severity.	Cohort 133 drug-na????ve children 6 to 13 years of age who fulfilled diagnostic criteria for ADHD 										
121765		bipolar disorder; depression	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Shimada, M. K.  et al. 2004	15044110			intron	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Biochemical and biophysical research communications. 2004 Apr;316(4):1186-90	Polymorphism in the second intron of dopamine receptor D4 gene in humans and apes		126452	10196	2	2004	Because of usefulness of primates in behavioral science, this polymorphism may be a useful marker for association studies with behavioral traits in both humans and apes.	Cohort 210 Japanese 										
121760		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill, J.  et al. 2003	12960764				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuroreport. 2003 Aug;14(11):1463-6	Polymorphisms in the dopamine D4 receptor gene and attention-deficit hyperactivity disorder.		126452	10191	2	2003	We found that none of the markers is individually associated with ADHD, although there is evidence to suggest that a haplotype of markers in the 5' promoter region of the gene (allele 2 of the 120 bp duplication, the C allele of the -616 substitution, and the C allele of the -521 substitution) may confer susceptibility.	Cohort 188 attention deficit hyperactivity disorder patients 										
121761	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Glatt, S. J.  et al. 2003	13129658				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Biological psychiatry. 2003 Sep;54(6):629-35	Schizophrenia is not associated with DRD4 48-base-pair-repeat length or individual alleles:results of a meta-analysis.		126452	10192	2	2003	 Despite over 90% power to detect a significant odds ratio of 1.4 or less, none was observed. This polymorphism seems not to influence risk for most schizophrenia cases; however, a sex-dependent relationship, or a role in some clinical features of the disorder, cannot be excluded and should be pursued experimentally.	Control:>=2,100 controls from 14-16 studies;Case:>=2,300 schizophrenic cases from 14-16 studies										
121762	Y	bone density	METABOLIC	MET	Body Weight	11	11p15.5	DRD4	627304	630703		Yamada, Y.  et al. 2003	14605948				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Japanese	Japan	CDC GDPinfo	1815	Hs.99922			Journal of human genetics. 2003 ;48(12):629-33	Association of a polymorphism of the dopamine receptor D4 gene with bone mineral density in Japanese men.		126452	10193	2	2003	These results implicate DRD4 as a candidate locus for reduced BMD in Japanese men.	Cohort 2,228 Japanese subjects randly recruited to a population-bassed, prospective cohort study 										
121757	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Keltikangas-Jarvinen, L.  et al. 2003	12764221				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychosomatic medicine. 2003 May-Jun;65(3):471-6	Association between the type 4 dopamine receptor gene polymorphism and novelty seeking		126452	10184	2	2003	 The present study confirmed previous findings on the association between the type 4 dopamine receptor gene and novelty seeking, in particular exploratory excitability and impulsiveness. The tendency to avoid or approach a novel situation is a core concept of several temperamental theories. The present findings support the hypothesis that this tendency is associated with DRD4 and might concern temperament psychology in general, not only the concept of novelty seeking.	Cohort 150 high and low novelty-seeking scorers (the highest and lowest 10%) from a randomized, population-based sample of Finnish citizens in six age cohorts Finland 										
121758		schizophrenia; bipolar disorder; affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Mood Disorders|Bipolar Disorder|Schizophrenia	11	11p15.5	DRD4	627304	630703		Chotai, J.  et al. 2003	12860364				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		Italy	CDC GDPinfo	1815	Hs.99922			Psychiatry research. 2003 Jul;119(2-Jan):99-111	Gene-environment interaction in psychiatric disorders as indicated by season of birth variations in tryptophan hydroxylase (TPH), serotonin transporter (5-HTTLPR) and dopamine receptor (DRD4) gene polymorphisms.		126452	10188	2	2003	Our results thus suggest an interaction between the seasons of birth and the expression of the candidate genes, and that season of birth is a confounding variable when investigating the role of the candidate genes in susceptibility to psychiatric disorders.	Control:395:controls;Case:954 patients with unipolar affective disorder, bipolar affective disorder, and schizophrenia										
121759	Y	attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Qian, Q.  et al. 2003	12947560				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		CDC GDPinfo	1815	Hs.99922			Beijing da xue xue bao Yi xue ban. 2003 Aug;35(4):412-8	[Association studies of dopamine D4 receptor gene and dopamine transporter gene polymorphisms in Han Chinese patients with attention deficit hyperactivity disorder]		126452	10190	2	2003	 The long-repeat alleles of DRD4 (after a stratification by gender) and DAT1 may increase the risk for ADHD in Han Chinese children.	Control:226 unrelated controls;Case:340 Chinese attention deficit hyperactivity disorder:children										
121754		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Lee, H. J.  et al. 2003	12627471				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		CDC GDPinfo	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):76-80	Allelic variants interaction of dopamine receptor D4 polymorphism correlate with personality traits in young Korean female population.		126452	10180	2	2003	We found that the interaction between the two alleles of DRD4 polymorphism, 48-bp VNTR and -521 C/T, were significantly high on NS (F = 4.88, P = 0.029) and persistence (P) (F = 5.05, P = 0.027) personality scores, suggesting that the variants of DRD4 gene influence the NS and P (persistent) personality traits. When analyzed independently, however, the two different alleles of DRD4 polymorphisms, 48-bp VNTR and -521 C/T, there was no direct correlation with the personality traits.	Cohort young Korean females 										
121755	Y	temperament	OTHER	OTH		11	11p15.5	DRD4	627304	630703		De Luca, A.  et al. 2003	12687422				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neurogenetics. 2003 Aug;4(4):207-12	Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants.		126452	10182	2	2003	This study corroborates only in part previous results on the link between the DRD4 gene and human temperament.	Cohort 1- to 5-month-old neonates assessed by the Early and Revised Infancy Temperament Questionnaire 										
121756		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Zalsman, G.  et al. 2003	12729944				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			European neuropsychopharmacology. 2003 May;13(3):183-5	DRD4 exon III polymorphism and response to risperidone in Israeli adolescents with schizophrenia: a pilot pharmacogenetic study.		126452	10183	2	2003	Studies in larger groups of adolescent schizophrenia patients are warranted to clarify the possible association between DRD4 exon III repeat alleles and the response to risperidone.	Cohort 24 Israeli Jewish adolescent inpatients with first-episode schizophrenia 										
121751	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Lung, F.  et al. 2002	12223255				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian		CDC GDPinfo	1815	Hs.99922			Schizophrenia research. 2002 Oct;57(3-Feb):239-45	Ethnic heterogeneity in allele variation in the DRD4 gene in schizophrenia.		126452	10174	2	2002	No significant genotype differences were noted between patients and controls for the whole sample. However, reorganization of the studies into different groups by the geographical origin of samples revealed significant ethnic heterogeneity. In addition, there was a significant association between the long form of DRD4 gene and schizophrenia in Caucasians, especially those with familial schizophrenia.	Case:1431 schizophrenic patients (sporadic cases 1309, familial cases 122);Control:1439:controls										
121752		personality trait, 'Novelty Seeking'	PSYCH	PSY	Alcoholism	11	11p15.5	DRD4	627304	630703		Soyka, M.  et al. 2002	12393313				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of psychiatric research. 2002 Nov-Dec;36(6):429-35	Dopamine D 4 receptor gene polymorphism and extraversion revisited: results from the Munichgene bank project for alcoholism		126452	10175	2	2002	These findings are in line with a number of more recent studies questioning the association between novelty-seeking and DRD4 dopamine receptor gene polymorphism. Possible implications of these findings are discussed.	Cohort 181 alcoholic subjects 										
121753	N	personality disorders	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Strobel, A.  et al. 2003	12606846				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuropsychobiology. 2003 ;47(1):52-6	Lack of association between polymorphisms of the dopamine D4 receptor gene and personality.		126452	10179	2	2003	Our findings are in line with several earlier studies which have failed to replicate the initial association results. Hence, our data do not provide evidence for a role of DRD4 exon III and the -521C/T polymorphism in the modulation of novelty seeking and extraversion.	Cohort 115 healthy German volunteers 										
121747	Y	smoking behavior	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Hutchison, K. E.  et al. 2002	11866166				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of abnormal psychology. 2002 Feb;111(1):134-43	The DRD4 VNTR polymorphism influences reactivity to smoking cues.		126452	10168	2	2002	Analyses suggested that participants homozygous or heterozygous for the 7 repeat (or longer) allele of DRD4 demonstrated significantly greater craving, more arousal, less positive affect, and more attention to the smoking cues than did the participants in the S group.											
121748	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703		Hutchison, K. E.  et al. 2002	11950104				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Health psychology. 2002 Mar;21(2):139-46	The DRD4 VNTR polymorphism moderates craving after alcohol consumption		126452	10170	2	2002	Results suggested that DRD4 L participants demonstrated significantly higher craving after consumption of alcohol as compared with the control beverage.	Cohort participants 										
121750	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Kluger, A. N.  et al. 2002	12192615				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(7):712-7	A meta-analysis of the association between DRD4 polymorphism and novelty seeking		126452	10173	2	2002	(a) on average, there is no association between DRD4 polymorphism and novelty seeking (average d= 0.06 with 95% CI of 0.09), where 13 reports suggest that the presence of longer alleles is associated with higher novelty seeking scores and seven reports su											
121744	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Todd, R. D.  et al. 2001	11449395				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2001 Jul;105(5):432-8	Lack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twins.		126452	10165	2	2001	In contrast to most, but not all, previous studies, we failed to demonstrate any significant association of the exon 3 7-repeat allele with ADHD. Nor did we replicate the association of the 5'120 base pair repeat polymorphism. We do find a significant association of the exon 3 3-repeat allele with a novel talkative/impulsive latent-class-defined subtype of ADHD	Cohort population-derived samples of DSM-IV ADHD subtypes 										
121745		hyperkinetic disorder	OTHER	OTH	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Seeger, G.  et al. 2001	11684336				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neuroscience letters. 2001 Nov;313(2-Jan):45-8	Marker gene polymorphisms in hyperkinetic disorder - predictors of clinical response to treatment with methylphenidate?		126452	10166	2	2001	Thus, our study supports the hypothesis that marker gene polymorphism may be helpful in identifying MPH non-responders.	Cohort hyperkinetic disorder patients 	methylphenidate	DRD4	7	5HTT	LL			Y		hyperkinetic disorder
121746	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Tang, Y.  et al. 2001	11718085				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		CDC GDPinfo	1815	Hs.99922			Zhonghua yi xue za zhi. 2001 Aug;81(16):995-8	Schizophrenia and dopamine D4 gene polymorphism in Chinese population: association analysis		126452	10167	2	2001	 The most common allele in Chinese schizophrenics was 4 repeats in the 48 bp VNTR polymorphism of DRD4 gene exon III. The repeat number of 48 bp is probably associated with schizophrenia. Lack of 2-3 repeats or excess of genotype with 4-repeat allele may be associated with increased vulnerability to schizophrenia.	Cohort 171 Chinese Han psychiatrically normal controls ;Case:510 Chinese Han DSM-IV schizophrenics										
121741	Y	psychosis	PSYCH	PSY	Mental Disorders	11	11p15.5	DRD4	627304	630703		Rinetti, G.  et al. 2001	11282178				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Archives of medical research. 2001 Jan-Feb;32(1):35-8	Dopamine D4 receptor (DRD4) gene polymorphism in the first psychotic episode.		126452	10162	2	2001	 A significantly lower frequency of the four repeat (4-R) carriers in the FPE group was observed. This association was sustained mainly by the affective psychotic group (chi2 = 9.99 df = 2, p = 0.0073). Although these results require testing with stringent methods, it is suggested that the DRD4-4R allele may confer some protection against psychosis, mainly of the affective subtype.	Case:37 patients with a first psychotic episode;Control:37 matched control group										
121742	Y	adaptability trait	UNKNOWN	UNK		11	11p15.5	DRD4	627304	630703		De Luca, A.  et al. 2001	11354829				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Neurogenetics. 2001 Mar;3(2):79-82	Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinalstudy in 1- to 5-month-old neonates.		126452	10163	2	2001	These results confirm and extend the genetic influence of the DRD4 gene in human temperament at birth.	Cohort 122 neonates assessed for behavior measurements at 1 and 5 months of life Italy 										
121743	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Faraone, S. V.  et al. 2001	11431226				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The American journal of psychiatry. 2001 Jul;158(7):1052-7	Meta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorder.		126452	10164	2	2001	 Although the association between ADHD and DRD4 is small, these results suggest that it is real. Further studies are needed to clarify what variant of DRD4 (or some nearby gene) accounts for this association.	Meta-analysis was applied to case-control and family-based studies 										
121738		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11p15.5	DRD4	627304	630703		Li, T.  et al. 2000	11054768				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	China	CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2000 Oct;96(5):616-21	Association analysis of polymorphisms in the DRD4 gene and heroin abuse in Chinese subjects.		126452	10159	2	2000	The association we observed between inhalers and the DRD4 polymorphism is difficult to interpret, although it is possible that the association is explained by different levels of novelty seeking between the two subgroups.	Control:304:controls;Case:405 heroin-abusing subjects Sichuan Province, Southwest China										
121739	Y	disorganized attachment behavior	PSYCH	PSY	Genetic Predisposition to Disease|Child Behavior Disorders|Reactive Attachment Disorder	11	11p15.5	DRD4	627304	630703		Lakatos, K.  et al. 2000	11126393				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2000 Nov;5(6):633-7	Dopamine D4 receptor (DRD4) gene polymorphism is associated with attachment disorganization in infants.		126452	10160	2	2000	We suggest that, in non-clinical, low-social-risk populations, having a 7-repeat allele predisposes infants to attachment disorganization.	Cohort 90 infants 										
121740	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Ronai, Z.  et al. 2001	11244482	( -521 C/T )		promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2001 Jan;6(1):35-8	Association between Novelty Seeking and the -521 C/T polymorphism in the promoter region of the DRD4 gene.		126452	10161	2	2001	We found a weak association between NS and CC vs CT or TT genotypes (P < 0.06). Examination of this relation in male and female sex groups, however, strengthened the association for females (P < 0.01), but showed no genotypic effect for males.	Cohort 109 healthy Hungarian volunteers Hungary 										
121735	Y	temperament in 3-year-old infants	OTHER	OTH		11	11p15.5	DRD4	627304	630703		De Luca A 2003	12687422				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Neurogenetics. 2003 Aug;4(4):207-12	Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants.		126452	2301	1	2003	This study corroborates only in part previous results on the link between the DRD4 gene and human temperament.	Cohort 1- to 5-month-old neonates assessed by the Early and Revised Infancy Temperament Questionnaire										
121736		obesity	METABOLIC	MET	Obesity|Body Weight|Hyperphagia|Attention Deficit Disorder with Hyperactivity|Seasonal Affective Disorder	11	11p15.5	DRD4	627304	630703		Levitan RD 2004	14560322				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Neuropsychopharmacology. 2004 Jan;29(1):179-86	Childhood inattention and dysphoria and adult obesity associated with the dopamine D4 receptor gene in overeating women with seasonal affective disorder.		126452	2302	1	2004	This developmental course may reflect different manifestations of the same underlying vulnerability related to central dopamine dysfunction. Given the possibility of population stratification when studying genotype/phenotype relationships, future use of genomic controls and replication of our findings in other overeating and/or ADD populations are needed to confirm these initial results.	Cohort 108 women with winter SAD and carbohydrate craving/weight gain										
121737	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Langley K 2004	14702261				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			The American journal of psychiatry. 2004 Jan;161(1):133-8	Association of the dopamine D4 receptor gene 7-repeat allele with neuropsychological test performance of children with ADHD.		126452	2303	1	2004	 In children with ADHD, possession of the DRD4 7-repeat allele appears to be associated with an inaccurate, impulsive response style on neuropsychological tasks that is not explained by ADHD symptom severity.	Cohort 133 drug-na????ve children 6 to 13 years of age who fulfilled diagnostic criteria for ADHD										
121732	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Glatt SJ 2003	13129658	48-base-pair-repeat			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Biological psychiatry. 2003 Sep;54(6):629-35	Schizophrenia is not associated with DRD4 48-base-pair-repeat length or individual alleles: results of a meta-analysis.		126452	2298	1	2003	 Despite over 90% power to detect a significant odds ratio of 1.4 or less, none was observed. This polymorphism seems not to influence risk for most schizophrenia cases; however, a sex-dependent relationship, or a role in some clinical features of the disorder, cannot be excluded and should be pursued experimentally.	Control:>=2,100 controls from 14-16 studies;Case:>=2,300 schizophrenic cases from 14-16 studies										
121733		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill J 2003	12960764				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Neuroreport. 2003 Aug;14(11):1463-6	Polymorphisms in the dopamine D4 receptor gene and attention-deficit hyperactivity disorder.		126452	2299	1	2003	We found that none of the markers is individually associated with ADHD, although there is evidence to suggest that a haplotype of markers in the 5' promoter region of the gene (allele 2 of the 120 bp duplication, the C allele of the -616 substitution, and the C allele of the -521 substitution) may confer susceptibility.	Cohort 188 attention deficit hyperactivity disorder patients										
121734		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Lee HJ 2003	12898574				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		KGB	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):44-9	D2 and D4 dopamine receptor gene polymorphisms and personality traits in a young Korean population.		126452	2300	1	2003	These results, thus, confirmed the previous findings in which the long repeats of the DRD4-exon III polymorphism are related to NS personality trait, and also suggested that the DRD2 less frequent alleles were also associated with the reward-dependent trait.	Cohort 243 young alcohol- and drug-na????ve Koreans who were blood-unrelated Korea										
121728	N	bipolar disorder	PSYCH	PSY	Sleep Deprivation|Genetic Predisposition to Disease|Bipolar Disorder	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 1999	10646829			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922			Psychiatry research. 1999 Dec;89(2):107-14	Dopamine receptor D4 is not associated with antidepressant activity of sleep deprivation		126452	2293	1	1999		Case:BP: 124										
121729	N	mood disorders	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder	11	11p15.5	DRD4	627304	630703	n	Seretti A 1999	10512150			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian		Serretti et al. 1999	1815	Hs.99922	BP and Major depressive		Psychiatry research. 1999 Jul;87(1):19-Jul	Dopamine receptor D2, D4, GABAA Alpha-1 subunit genes and response to lithium prophylaxis in mood disorders.		126452	2295	1	1999		Case:125										
121730	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703	n	Marino C 2003	14505070				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		Italy	KGB	1815	Hs.99922			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126452	2296	1	2003												
121724		heroin abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	11	11p15.5	DRD4	627304	630703		Li T et al. 1997	9322237				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		KGB	1815	Hs.99922			Molecular psychiatry. 1997 Sep;2(5):413-6	Association analysis of the dopamine D4 gene exon III VNTR and heroin abuse in Chinese subjects.		126452	2289	1	1997	We conclude that  our findings support the hypothesis that alleles of the DRD4 exon III VNTR are susceptibility factors for heroin abuse.											
121726	N	Major Psychoses	PSYCH	PSY	Psychotic Disorders	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 1999	10050966			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922	Major Psychosis		American journal of medical genetics. 1999 Feb;88(1):44-9	No Interaction of GABAA Alpha-1 Subunit and		126452	2291	1	1999		Case:SKZ=162; BP=152; UP=83; DELUSIONAL=56; NOS:8										
121727	N	Major Psychoses	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Paranoid Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 1999	10490703			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922			American journal of medical genetics. 1999 Oct;88(5):481-5	No Interaction Between Serotonin Transporter		126452	2292	1	1999		Case:SKZ=162; BP=152; UP=83; DELUSIONAL=56; NOS:8										
121720	Y	ADHD	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Faraone SV et al. 2001	11431226	7-repeat allele			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			The American journal of psychiatry. 2001 Jul;158(7):1052-7	Meta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorder.		126452	2285	1	2001	 Although the association between ADHD and DRD4 is small, these results suggest that it is real. Further studies are needed to clarify what variant of DRD4 (or some nearby gene) accounts for this association.	Meta-analysis was applied to case-control and family-based studies										
121721	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Ekelund J et al. 1999	10484963				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Finnish		KGB	1815	Hs.99922			The American journal of psychiatry. 1999 Sep;156(9):1453-5	Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample.		126452	2286	1	1999	 These results confirm the original findings of an association between the DRD4 gene and novelty seeking, while showing that novelty seeking is probably not influenced by the polymorphism itself but, rather, a different DNA variant in the DRD4 gene or another gene in linkage disequilibrium with it.											
121722	Y	psychotic disorders	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder|Psychotic Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703		Weiss J et al. 1996	9353244				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			European journal of medical research. 1996 Jun;1(9):439-45	Association between different psychotic disorders and the DRD4 polymorphism but no differences in the main ligand binding region of the DRD4 receptor protein compared to controls.		126452	2287	1	1996												
121716		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill J et al. 2001	11443530				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2001 Jul;6(4):440-4	Attention deficit hyperactivity disorder (ADHD) and the dopamine D4 receptor gene: evidence of association but no linkage in a UK sample.		126452	2281	1	2001	We conclude that  the case-control findings are likely to be falsely positive, resulting from genetic stratification. However we can not rule out alternative explanations of low statistical power and gene-environment correlation.	Control:189 not specified in abstract;Case:32 attention deficit hyperactivity disorder patients										
121717	N	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Jonsson EG et al. 1997	9137132				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			The American journal of psychiatry. 1997 May;154(5):697-9	Lack of evidence for allelic association between personality traits and the dopamine D4 receptor gene polymorphisms.		126452	2282	1	1997	 The previously reported association between dopamine D4 receptor alleles and novelty seeking was not replicated. Possible reasons for this include differences in personality inventories, ethnicity, and type I or type II errors.											
121718	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 2002	11992558			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922			American journal of medical genetics. 2002 May;114(4):361-9	Family-based association study of 5-HTTLPR TPH MAO-A and DRD4 polymorphisms in mood disorders.		126452	2283	1	2002		Case:103BP-58 MD										
121712		side-effects of clozapine	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Rietschel M et al. 1996	8914122				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Neuropsychopharmacology. 1996 Nov;15(5):491-6	Efficacy and side-effects of clozapine: testing for association with allelic variation in the dopamine D4 receptor gene.		126452	2277	1	1996												
121713	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Kohn Y et al. 1997	9088883				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			European neuropsychopharmacology. 1997 Feb;7(1):39-43	Dopamine D4 receptor gene polymorphisms: relation to ethnicity no association with schizophrenia and response to clozapine in Israeli subjects.		126452	2278	1	1997												
121715	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703	n	Parsian A et al. 1997	9184311				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1997 May;74(3):281-5	No association between polymorphisms in the human dopamine D3 and D4 receptors genes and alcoholism.		126452	2280	1	1997												
121708	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Ono Y et al. 1997	9342200				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Japanese		KGB	1815	Hs.99922			American journal of medical genetics. 1997 Sep;74(5):501-3	Association between dopamine D4 receptor (D4DR) exon III polymorphism and novelty seeking in Japanese subjects.		126452	2273	1	1997												
121709		novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Malhotra AK et al. 1996	9154232				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 1996 Nov;1(5):388-91	The association between the dopamine D4 receptor (D4DR) 16 amino acid repeat polymorphism and novelty seeking.		126452	2274	1	1996												
121711	Y	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	11	11p15.5	DRD4	627304	630703		Millet B et al. 2003	12497615				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):55-9	Association between the dopamine receptor D4 (DRD4) gene and obsessive-compulsive disorder.		126452	2276	1	2003												
121704		Novelty Seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Benjamin J et al. 1996	8528258				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Nature genetics. 1996 Jan;12(1):81-4	Population and familial association between the D4 dopamine receptor gene and measures of Novelty Seeking.		126452	2269	1	1996												
121705	N	mood disorders	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 1998	9754692			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	affect		Serretti	1815	Hs.99922	Self-esteem		Psychiatry research. 1998 Aug;80(2):137-44	Self-esteem in remitted patients with mood disorders is not associated with the dopamine receptor D4 and the serotonin transporter genes.		126452	2270	1	1998		Case:103 BP-59 UP										
121706		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Daniels J et al. 1994	7810584				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1994 Sep;54(3):256-8	Repeat length variation in the dopamine D4 receptor gene shows no evidence of association with schizophrenia.		126452	2271	1	1994												
121707	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Okuyama Y et al. 1999	10329380			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Biochemical and biophysical research communications. 1999 May;258(2):292-5	A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia.		126452	2272	1	1999												
121700	N	mood disorder	PSYCH	PSY	Depressive Disorder, Major	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 2001	11728608			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	affect		Serretti	1815	Hs.99922	depressive symptomatology		Psychiatry research. 2001 Nov;104(3):195-203	No association between dopamine D(2) and D(4) receptor gene variants and antidepressant activity of two selective serotonin reuptake inhibitors.		126452	2265	1	2001	The investigated DRD2 and DRD4 gene variants therefore do not seem to play a major role in the antidepressant activity of SSRIs, at least in the present sample.	Cohort 364 inpatients affected by a major depressive episode treated with fluvoxamine, 300 mg/day (n=266), or paroxetine, 20-40 mg/day (n=98).	fluvoxamine paroxetine									
121701	N	novelty seeking	PSYCH	PSY	Alcoholism|Depressive Disorder	11	11p15.5	DRD4	627304	630703	n	Sullivan PF et al. 1998	9433345				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	New Zealand	New Zealand	KGB	1815	Hs.99922			The American journal of psychiatry. 1998 Jan;155(1):98-101	No association between novelty seeking and the type 4 dopamine receptor gene (DRD4) in two New Zealand samples.		126452	2266	1	1998	 In these samples, there was no suggestion that the DRD4 polymorphism contributed to individual differences in the behavioral trait of novelty seeking.											
121703	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703	n	Hawi Z et al. 2000	10898897				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Irish		KGB	1815	Hs.99922			American journal of medical genetics. 2000 Jun;96(3):268-72	No association of the dopamine DRD4 receptor (DRD4) gene polymorphism with attention deficit hyperactivity disorder (ADHD) in the Irish population.		126452	2268	1	2000												
121696	N	mood disorders	PSYCH	PSY	Mood Disorders	11	11p15.5	DRD4	627304	630703		Cusin C et al. 2002	11992560				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A COMT 5-HT2A DRD2 and DRD4 polymorphisms with illness time course in mood disorders.		126452	2261	1	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
121698	Y	temperament	OTHER	OTH		11	11p15.5	DRD4	627304	630703		Auerbach JG et al. 2001	11583250			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Journal of child psychology and psychiatry, and allied disciplines. 2001 Sep;42(6):777-83	The association of the dopamine D4 receptor gene (DRD4) and the serotonin transporter promoter gene (5-HTTLPR) with temperament in 12-month-old infants.		126452	2263	1	2001	The infants were observed in a series of standard temperament episodes that elicited fear, anger, pleasure, interest, and activity. The implications and limitations of these findings are discussed.	Cohort 61 infants aged 12 months										
121699		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Curran S et al. 2001	11378855				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 2001 May;105(4):387-93	QTL association analysis of the DRD4 exon 3 VNTR polymorphism in a population sample of children screened with a parent rating scale for ADHD symptoms.		126452	2264	1	2001												
121692		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Franke P et al. 2000	10673776				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2000 Jan;5(1):101-4	DRD4 exon III VNTR polymorphism-susceptibility factor for heroin dependence? Results of a case-control and a family-based association approach.		126452	2257	1	2000												
121693	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703	n	Parsian A et al. 1997	9184311				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1997 May;74(3):281-5	No association between polymorphisms in the human dopamine D3 and D4 receptors genes and alcoholism.		126452	2258	1	1997												
121695	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Jonsson EG et al. 2002	11803441				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2002 ;7(1):18-20	No association between dopamine D4 receptor gene variants and novelty seeking.		126452	2260	1	2002	Our data do not provide evidence for associations between the two DRD2 polymorphisms and Novely Seeking. Several reasons may account for our failure to replicate the reported associations. First, our sample may not have provided sufficient power to detect	Cohort 276 unrelated healthy volunteers of German ethnicity (205 women and 71 men)										
121689		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703		Ishiguro H et al. 2000	10776673				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Alcoholism, clinical and experimental research. 2000 Mar;24(3):343-7	Association study between genetic polymorphisms in the 14-3-3 eta chain and dopamine D4 receptor genes and alcoholism.		126452	2254	1	2000	 YWHAH and DRD4 do not appear to play a major role in the development of alcoholism.											
121690	Y	alcoholism	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Muramatsu T et al. 1996	8929946				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		Japan	KGB	1815	Hs.99922			Journal of medical genetics. 1996 Feb;33(2):113-5	Association between alcoholism and the dopamine D4 receptor gene.		126452	2255	1	1996												
121691	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Jonsson EG et al. 2001	11496369			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 2001 Aug;105(6):525-8	No association between a promoter dopamine D(4) receptor gene variant and schizophrenia.		126452	2256	1	2001	The present results do not support a major role for DRD4 in the etiology of schizophrenia among Caucasians from Sweden.	Case:132 Caucasian patients with schizophrenia:Sweden;Control:388 Caucasian control subjects:Sweden										
121684	Y	attention problems	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Schmidt LA et al. 2001	11409696				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Psychiatric genetics. 2001 Mar;11(1):25-9	Association of DRD4 with attention problems in normal childhood development.		126452	2249	1	2001	Our results show that the DRD4 gene influences normal as well as pathological attention processes, and the results highlight the utility of longitudinal measurements in psychiatric genetics.	Cohort non-clinically selected sample of children for whom maternal reports of attention problems were available at 4 and 7 years of age.										
121685	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		LaHoste GJ et al. 1996	9118321				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 1996 May;1(2):121-4	Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder.		126452	2250	1	1996												
121686		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Holmes J et al. 2000	11032386				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2000 Sep;5(5):523-30	A family-based and case-control association study of the dopamine D4 receptor gene and dopamine transporter gene in attention deficit hyperactivity disorder.		126452	2251	1	2000												
121680	N	mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Paranoid Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Serretti A et al. 1999	10490704			other	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922	depressive symptomatology		American journal of medical genetics. 1999 Oct;88(5):486-91	Dopamine receptor D4 gene is not associated with major psychoses.		126452	2245	1	1999		Case:SKZ=229; BP=210; UP=126; DELUSIONAL=86; Control:471										
121681		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11p15.5	DRD4	627304	630703		Li T et al. 2000	11054768				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	China	KGB	1815	Hs.99922			American journal of medical genetics. 2000 Oct;96(5):616-21	Association analysis of polymorphisms in the DRD4 gene and heroin abuse in Chinese subjects.		126452	2246	1	2000	The association we observed between inhalers and the DRD4 polymorphism is difficult to interpret, although it is possible that the association is explained by different levels of novelty seeking between the two subgroups.	Control:304:controls;Case:405 heroin-abusing subjects Sichuan Province, Southwest China										
121683	Y	attachment disorganization	PSYCH	PSY	Genetic Predisposition to Disease|Child Behavior Disorders|Reactive Attachment Disorder	11	11p15.5	DRD4	627304	630703		Lakatos K et al. 2000	11126393				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2000 Nov;5(6):633-7	Dopamine D4 receptor (DRD4) gene polymorphism is associated with attachment disorganization in infants.		126452	2248	1	2000	We suggest that, in non-clinical, low-social-risk populations, having a 7-repeat allele predisposes infants to attachment disorganization.	Cohort 90 infants										
121676		schizophrenia	PSYCH	PSY	Obsessive-Compulsive Disorder|Bipolar Disorder|Schizophrenia	11	11p15.5	DRD4	627304	630703		Di Bella D et al. 1996	8902887				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian		KGB	1815	Hs.99922			Psychiatric genetics. 1996 ;6(3):119-21	Association study of a null mutation in the dopamine D4 receptor gene in Italian patients with obsessive-compulsive disorder bipolar mood disorder and schizophrenia.		126452	2241	1	1996												
121677		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Petronis A et al. 1995	8546161				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1995 Oct;60(5):452-5	Association study between the dopamine D4 receptor gene and schizophrenia.		126452	2242	1	1995												
121678	N	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Jonsson EG et al. 1998	9723153				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Psychological medicine. 1998 Jul;28(4):985-9	Lack of association between dopamine D4 receptor gene and personality traits.		126452	2243	1	1998	 The dopamine D4 receptor gene is probably not of importance to the different personality dimensions as measured by the Karolinska Scales of Personality.											
121679	Y	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Okuyama Y et al. 2000	10673770			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2000 Jan;5(1):64-9	Identification of a polymorphism in the promoter region of DRD4 associated with the human novelty seeking personality trait.		126452	2244	1	2000												
121672		pathological gambling	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Perez de Castro I et al. 1997	9352568				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Pharmacogenetics. 1997 Oct;7(5):345-8	Genetic association study between pathological gambling and a functional DNA polymorphism at the D4 receptor gene.		126452	2237	1	1997												
121673	N	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Strobel A 2003	12606846				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	German		KEW	1815	Hs.99922	extraversion or novelty seeking		Neuropsychobiology. 2003 ;47(1):52-6	Lack of association between polymorphisms of the dopamine D4 receptor gene and personality.		126452	2238	1	2003	Our findings are in line with several earlier studies which have failed to replicate the initial association results. Hence, our data do not provide evidence for a role of DRD4 exon III and the -521C/T polymorphism in the modulation of novelty seeking and extraversion.	Cohort 115 healthy German volunteers										
121675	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Tang Y et al. 2001	11718085				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese		KGB	1815	Hs.99922			Zhonghua yi xue za zhi. 2001 Aug;81(16):995-8	Schizophrenia and dopamine D4 gene polymorphism in Chinese population: association analysis		126452	2240	1	2001	 The most common allele in Chinese schizophrenics was 4 repeats in the 48 bp VNTR polymorphism of DRD4 gene exon III. The repeat number of 48 bp is probably associated with schizophrenia. Lack of 2-3 repeats or excess of genotype with 4-repeat allele may be associated with increased vulnerability to schizophrenia.	Cohort 171 Chinese Han psychiatrically normal controls ;Case:510 Chinese Han DSM-IV schizophrenics										
121668	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703	n	Todd RD 2001	11449395	Exon 3 polymorphism containing a number of imperfect 48 base pair repeats			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Twins		KGB	1815	Hs.99922			American journal of medical genetics. 2001 Jul;105(5):432-8	Lack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twins.		126452	2233	1	2001	In contrast to most, but not all, previous studies, we failed to demonstrate any significant association of the exon 3 7-repeat allele with ADHD. Nor did we replicate the association of the 5'120 base pair repeat polymorphism. We do find a significant association of the exon 3 3-repeat allele with a novel talkative/impulsive latent-class-defined subtype of ADHD	Cohort population-derived samples of DSM-IV ADHD subtypes										
121669	N	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p15.5	DRD4	627304	630703	n	Wan DC 1999	10091613	4-Repeat allele. 2-Repeat allele. and 7-Repeat allele			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Chinese	Hong Kong	KGB	1815	Hs.99922			Movement disorders. 1999 Mar;14(2):225-9			126452	2234	1	1999		Case:101; Control:105										
121670	N	Attention Defict/ Hyperactivity Disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703	n	Castellanos FX 1998	9774777	DRD4* 7R			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 1998 Sep;3(5):431-4			126452	2235	1	1998		Case:41; Control:56										
121664		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Iwata, Y.  et al. 2003	12497608				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Japanese		CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		126451	25962	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
121665		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Dick, D. M.  et al. 2003	12766633				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		126451	26845	2	2003	Review article											
121667	N	novelty seeking	OTHER	OTH		11	11p15.5	DRD4	627304	630703	n	Herbst JH 2000	10910792	48-base-pair repeat in the D4DR gene			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	BLSA		KGB	1815	Hs.99922			The American journal of psychiatry. 2000 Aug;157(8):1285-90			126452	2232	1	2000	 This investigation produced no support for the temperament-character model at either the biological or psychological level.											
121661		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Rybakowski, J. K.  et al. 2005	15785860				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			J Neural Transm. 2005 Nov;112(11):1575-82	An association study of dopamine receptors polymorphisms and the Wisconsin Card Sorting Test in schizophrenia.		126451	24309	2	2005	The results may suggest an association between DRD1 gene polymorphism and performance on PFC test in schizophrenia. Also, the gender-dependent role of DRD2 in this process may be presumed.	Cohort 138 schizophrenic patients 										
121662		panic disorder; migraine	PSYCH	PSY	Migraine without Aura|Panic Disorder	3	3q13.3	DRD3	115330246	115380589		Stochino, M. E.  et al. 2003	12967601				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Italy	CDC GDPinfo	1814	Hs.121478			Pharmacological research. 2003 Nov;48(5):531-4	Association study between the phenotype migraine without aura-panic disorder and dopaminergic receptor genes.		126451	24310	2	2003	This result does not seem to support, in our limited sample, a common pathological basis, with regard to the dopaminergic system, between migraine and panic. Should migraine and panic disorder share some common mechanisms, these could be sought in neuro-chemical systems other than the dopaminergic one.	Cohort 100 probands suffereing from migraine without aura 										
121663		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	3	3q13.3	DRD3	115330246	115380589		de Leon, J.  et al. 2005	16160620				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		126451	25961	2	2005												
121658	N	hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	3	3q13.3	DRD3	115330246	115380589		Wang, J.  et al. 2004	14732464				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126451	21180	2	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121659	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	3	3q13.3	DRD3	115330246	115380589		Li, T.  et al. 2002	11920858				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese	China	CDC GDPinfo	1814	Hs.121478			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		126451	21181	2	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
121660	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Zhang, Z.  et al. 2003	12673575				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		CDC GDPinfo	1814	Hs.121478			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):98-102	[Pharmacogenetic assessment of antipsychotic-induced tardive dyskinesia:contribution of 5-hydroxytryptamine 2C receptor gene and of a combination of dopamine D3 variant allele (Gly) and MnSOD wild allele (Val)]		126451	21182	2	2003	 The excess of -697 variant in the promoter regulation region of the HTR2C gene may be a risk factor for the susceptibility to the occurrence of TD in Chinese male patients with schizophrenia. A combination of DRD3 variant allele (Gly) and MnSOD wild allele (Val) may increase the susceptibility to the development of TD.	Case:42 schizophrenics with persistent tardive dyskinesia;Control:59 schizophrenics without tardive dyskinesia										
121655		Tourette syndrome	PSYCH	PSY	Tourette Syndrome	3	3q13.3	DRD3	115330246	115380589		Diaz-Anzaldua, A.  et al. 2004	15094788				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Canadian	Quebec	CDC GDPinfo	1814	Hs.121478			Molecular psychiatry. 2004 Mar;9(3):272-7	Tourette syndrome and dopaminergic genes: afamily-based association study in the French Canadian founder population.		126451	21177	2	2004	These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.	Cohort 110 French Canadian Tourette syndrome patients 										
121656		personality disorders	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589		Munafo, M. R.  et al. 2003	12808427				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Molecular psychiatry. 2003 May;8(5):471-84	Genetic polymorphisms and personality in healthy adults: a systematic review and meta-analysis.		126451	21178	2	2003	Implications for the design of future association studies of human personality are discussed, including the likely sample sizes that will be required to achieve sufficient power and the potential role of moderating variables such as sex.	Cohort individuals from 46 studies contributed to the analysis 										
121657		Parkinson's disease; bipolar disorder	NEUROLOGICAL	NEUR		3	3q13.3	DRD3	115330246	115380589		Wang, J.  et al. 2000	11024217				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Zhonghua yi xue yi chuan xue za zhi. 2000 Oct;17(5):348-51	Dopamine receptor gene polymorphisms in Guangzhou Hans.		126451	21179	2	2000	 The polymorphisms of DRD2, DRD3, DRD5 gene in Guangzhou Hans were high and different from those in other populations.	Cohort 141 healthy Guangzhou Hans China 										
121652		bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Leszczynska-Rodziewicz, A.  et al. 2005	15917720				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Polish		CDC GDPinfo	1814	Hs.121478			Medical science monitor. 2005 Jun;11(6):CR289-295	Lack of association between polymorphisms of dopamine receptors, type D2, and bipolar affective illness in a Polish population.		126451	21174	2	2005	 The results suggests that the studied gene variants of type D2 dopamine receptors are not promising candidate genes for bipolar affective illness. We did not consider the family history of the examined subjects, and also the control group was not psychiatrically screened, which may contribute to the lack of significant results.	Case:339 Polish bipolar patients;Control:366:controls										
121653		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Psychotic Disorders	3	3q13.3	DRD3	115330246	115380589		Chen, C. K.  et al. 2004	15564898				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2004 Dec;14(4):223-6	Association analysis of dopamine D2-like receptor genes and methamphetamine abuse.		126451	21175	2	2004	 Chance fluctuations in the frequency of rare alleles and ascertainment differences in the case and control samples cannot be ruled out. Therefore, further studies of the seven-repeat allele in MAMP abusers and controls should be performed before an association can be established.	Case:154 individuals with methamphetamine-induced psychosis;Control:252 methamphetamine users with no psychosis;Case:416 methamphetamine abusers from a hospital and a detention center:Taipei;Control:435:controls										
121654	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Lattuada, E.  et al. 2004	15383158				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			The international journal of neuropsychopharmacology. 2004 Dec;7(4):489-93	Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association studywith repeated assessment.		126451	21176	2	2004	We did not observe any significant association for the DRD2 and DRD3 polymorphisms.	Cohort 84 patients with residual schizophrenia 										
121649		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcoholism|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Wodarz, N.  et al. 2003	14628173				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Germany	CDC GDPinfo	1814	Hs.121478			Archives of women\s mental health. 2003 Nov;6(4):225-30	The candidate gene approach in alcoholism: arethere gender-specific differences?		126451	21171	2	2003	Our results demonstrate that a varying sex distribution in the samples investigated might contribute to the heterogeneous results reported in association studies for candidate genes in alcoholism and, therefore, should be taken into account in future studies.	Cohort a large sample of primary alcoholics 										
121650	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dyskinesia, Drug-Induced|Psychoses, Substance-Induced	3	3q13.3	DRD3	115330246	115380589		Kaiser, R.  et al. 2003	12796525				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neurology. 2003 Jun;60(11):1750-5	L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism.		126451	21172	2	2003	 Genetic variations of the DRD2, DRD3, and DRD4 do not influence the occurrence of L -dopa-induced adverse effects. However, the nine copy allele 40-bp VNTR of the DAT is a predictor for the occurrence of psychosis or dyskinesia in L -dopa-treated patients.	Cohort 183 patients with Parkinson's disease 	L-dopa									
121651		Parkinson's disease; sleep disorders	NEUROLOGICAL	NEUR	Parkinson Disease|Disorders of Excessive Somnolence|Narcolepsy|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Rissling, I.  et al. 2004	15390060				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Movement disorders. 2004 Nov;19(11):1279-84	Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks".		126451	21173	2	2004	No significant association between two other investigated polymorphisms and the phenomenon of "sleep attacks" in PD was observed.	Case:137 Parkinson's disease patients with sudden onset of:sleep;Control:137 Parkinson's disease patients without sudden onset of sleep matched according to drug therapy, disease duration, sex, and age										
121646	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Recurrence	3	3q13.3	DRD3	115330246	115380589		Wiesbeck, G. A.  et al. 2003	12811641				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			J Neural Transm. 2003 Jul;110(7):813-20	Dopamine D2 (DAD2) and dopamine D3 (DAD3) receptor gene polymorphisms and treatment outcome in alcohol dependence		126451	21168	2	2003	In conclusion, we found no evidence that the DAD2 or DAD3 gene variants investigated have a major influence on treatment outcome in primary alcohol dependence.	Cohort individuals suffering from primary alcohol dependence 										
121647		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Messas, G.  et al. 2005	16094250				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2005 Sep;15(3):171-4	Association study of dopamine D2 and D3 receptor gene polymorphisms with cocaine dependence.		126451	21169	2	2005												
121648	N	bipolar disorder	PSYCH	PSY	Sleep Deprivation|Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Benedetti, F.  et al. 2003	12834818				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatry research. 2003 Jun;118(3):241-7	Dopamine receptor D2 and D3 gene variants are not associated with the antidepressant effect of total sleep deprivation in bipolar depression.		126451	21170	2	2003	Consideration of possible stratification effects such as gender, age at onset and duration of illness did not reveal any association either. The tested gene variants are not a main factor influencing TSD outcome in bipolar disorder.	Cohort 124 depressed inpatients affected by bipolar disorder 	sleep deprivation									
121643		migraine	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	3	3q13.3	DRD3	115330246	115380589		Shepherd, A. G.  et al. 2002	12047334				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Headache. 2002 May;42(5):346-51	Dopamine receptor genes and migraine with and without aura: an association study.		126451	21165	2	2002	 These findings offer no evidence for allelic association between the tested dopamine receptor gene polymorphisms and the more prevalent forms of migraine and, therefore, do not support a role for these genes in the pathogenesis of the disorder.	Case:275:migraineurs;Control:275 age- and sex-matched individuals free of migraine										
121644		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	3	3q13.3	DRD3	115330246	115380589		Wang, J.  et al. 2001	11425949				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neurology. 2001 Jun;56(12):1757-9	Association study of dopamine D2, D3 receptor gene polymorphisms with motor fluctuations in PD		126451	21166	2	2001	These findings suggest that DRD2 TaqIA polymorphism may be associated with an increased risk for developing motor fluctuations in PD.	Cohort Parkinson's disease patients 										
121640		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Chronic Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Segman, R. H.  et al. 2002	11839369				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Biological psychiatry. 2002 Feb;51(3):261-3	Interactive effect of cytochrome P450 17alpha-hydroxylase and dopamine D3 receptor gene polymorphisms on abnormal involuntary movements in chronic schizophrenia.		126451	21162	2	2002	 Schizophrenia patients who carry the dopamine D3gly allele and the cytochrome P 450 17alpha-hydroxylase A2-A2 genotype may be more likely to develop abnormal orofoacial and distal involuntary movements and to be incapacitated by these movements when chronically exposed to classical antipsychotic drugs.	Case:55 schizophrenia patients with tardive dyskinesia;Control:58 schizophrenia patients without tardive dyskinesia										
121641		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Ozdemir, V.  et al. 2001	11179771				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Journal of biochemical and biophysical methods. 2001 Jan;47(2-Jan):151-7	Pharmacogenetic assessment of antipsychotic-induced movement disorders: contribution of the dopamine D3receptor and cytochrome P450 1A2 genes.		126451	21163	2	2001	Review article											
121642	Y	psychosis	PSYCH	PSY	Alzheimer Disease|Hallucinations|Genetic Predisposition to Disease|Psychotic Disorders	3	3q13.3	DRD3	115330246	115380589		Holmes, C.  et al. 2001	11723200				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Great Britain	CDC GDPinfo	1814	Hs.121478			Journal of neurology, neurosurgery, and psychiatry. 2001 Dec;71(6):777-9	Psychosis and aggression in Alzheimer's disease:the effect of dopamine receptor gene variation.		126451	21164	2	2001	An association was found between the presence of psychotic symptoms and aggressive behaviour and the DRD1 polymorphism and between the presence of psychosis, but not aggression, and the DRD3 polymorphism. Specifically, carriers of the DRD1 B2 allele were more likely to be aggressive or experience hallucinations whereas homozygous carriers of the DRD3 1 allele were more likely to experience delusions.	Cohort 134 patients with late onset Alzheimer's disease 										
121637	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Reynolds, G. P.  et al. 2005	15695058				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			European neuropsychopharmacology. 2005 Mar;15(2):143-51	Pharmacogenetics of treatment in first-episode schizophrenia: D3 and 5-HT2C receptor polymorphismsseparately associate with positive and negative symptom response.		126451	17599	2	2005	The D2 polymorphism was found not to be significantly associated with baseline levels or changes in total PANSS in these patients. The D3 genotype is associated with the change in total PANSS (p<0.01), an effect reflecting positive and general (each p<0.0	Cohort 117 schizophrenic patients 	antipsychotic drug									
121638		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Joober, R.  et al. 2000	11104840				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Journal of psychiatric research. 2000 Jul-Oct;34(5-Apr):285-91	DRD3 and DAT1 genes in schizophrenia: anassociation study		126451	19516	2	2000	 These results do not support the role of either of these genes in increasing susceptibility to schizophrenia or in modulating its phenotype in the studied population.	Case:42 two groups of schizophrenic patients, one of excellent neuroleptic responders and one of:nonresponders (N=64);Control:89 A group of healthy volunteers screened for major psychiatric disorders was also included	neuroleptic response									
121639		schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Liou, Y. J.  et al. 2004	15626824				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese	Taiwan	CDC GDPinfo	1814	Hs.121478			Neuromolecular medicine. 2004 ;5(3):243-51	Association analysis of the dopamine D3 receptor gene ser9gly and brain-derived neurotrophic factor gene val66met polymorphisms with antipsychotic-induced persistent tardive dyskinesia and clinical expression in Chinese schizophrenic patients.		126451	21161	2	2004	We concluded that the BDNF val66met genetic polymorphism may exert its effect on the clinically phenotypic variability after TD has occurred. Further replication studies with larger sample size and stringent definition for TD is necessary.	Cohort 216 schizophrenic patients (Tardive dyskenesia, n=102/non-tardive dyskinesia, n=114) 										
121635		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Baritaki, S.  et al. 2004	15083167				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			European journal of human genetics. 2004 Jul;12(7):535-41	Association between schizophrenia and DRD3 or HTR2 receptor gene variants		126451	17584	2	2004	In conclusion, from genetic association analysis of this schizophrenic population, a significant association is clearly determined between the HTR2 genetic polymorphism and the presence of schizophrenic disorder, manifested as increased risk of schizophrenia for carriers of the T-102 allele.	Case:114 hospitalized schizophrenics:Greece;Control:192:controls										
121636	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Akathisia, Drug-Induced|Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Segman, R. H.  et al. 2000	11140333				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychopharmacology. 2000 Nov;152(4):408-13	Association between the serotonin 2C receptor gene and tardive dyskinesia in chronic schizophrenia:additive contribution of 5-HT2Cser and DRD3gly alleles to susceptibility.		126451	17590	2	2000	 These findings support a small but significant contribution of the HT2CR and DRD3 to susceptibility to TD, which is additive in nature.	Case:55 schizophrenic patients with tardive dyskinesia;Control:60/97 schizophrenic patients without tardive dyskinesia (n=60) and normal control subjects (n=97)										
121631	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Jonsson, E. G.  et al. 2003	12605094				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Swedish		CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2003 Mar;13(1):12-Jan	Dopamine D3 receptor gene Ser9Gly variant and schizophrenia: association study and meta-analysis.		126451	16374	2	2003	 Whereas the present Swedish case-control analysis did not yield any evidence for association with the diagnosis, the present meta-analysis suggests that the DRD3 gene confer susceptibility to schizophrenia. Reasons for the discrepancies between prior studies are discussed.	Case:156 Swedish patients with schizophrenia;Control:463 control subjects										
121632	N	psychoses	PSYCH	PSY	Alzheimer Disease|Hallucinations|Psychotic Disorders	3	3q13.3	DRD3	115330246	115380589		Craig, D.  et al. 2004	15342129				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neuroscience letters. 2004 Sep;368(1):33-6	Psychotic symptoms in Alzheimer's disease are not influenced by polymorphic variation at the dopamine receptor DRD3 gene		126451	16377	2	2004	Logistic regression failed to detect any influence of APOE, gender, family history or prior psychiatric history. In conclusion, we were unable to confirm previously reported associations between the DRD3 BalI polymorphism and psychotic symptoms in AD.	Cohort a large cohort of Alzheimer's disease patients with a diagnosis of probable Alzheimer's disease of 3 years or more duration Northern Ireland 										
121633		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Keri, S.  et al. 2005	15998189				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Behavioral neuroscience. 2005 Jun;119(3):687-93	Habit learning and the genetics of the dopamine D3 receptor: evidence from patients with schizophreniaand healthy controls.		126451	16378	2	2005												
121628	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Anney, R. J.  et al. 2002	12082567			promoter	Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Molecular psychiatry. 2002 ;7(5):493-502	Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.		126451	16371	2	2002	No associations were observed with schizophrenia. In addition we failed to replicate previous findings of association with homozygosity of the Ser9Gly variant. The results from this study imply that neither the coding nor the regulatory region of DRD3 plays a major role in predisposition to schizophrenia.	Control matched controls;Case unrelated schizophrenic patients										
121629	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	3	3q13.3	DRD3	115330246	115380589		Lee, M. S.  et al. 2002	12218663				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Korean	Korea	CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2002 Sep;12(3):173-6	No association between the dopamine D3 receptor gene and Korean alcohol dependence.		126451	16372	2	2002	These results suggest that any role played by this receptor may account for only part of the variation in susceptibility to alcoholism.	Case:67 Korean alcoholic men;Control:67 age-matched normal male controls										
121630	N	personality disorders	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589		Jonsson, E. G.  et al. 2003	12555237				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):61-5	Association study between dopamine D3 receptor gene variant and personality traits.		126451	16373	2	2003	We conclude that  the investigated DRD3 polymorphism does not have a major impact on personality in the investigated population.	Cohort 273 individuals from the Swedish population Sweden 										
121625	N	schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Garcia-Barcelo, M. M.  et al. 2001	11478419				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese	Hong Kong	CDC GDPinfo	1814	Hs.121478			J Neural Transm. 2001 ;108(6):671-7	Dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients		126451	16367	2	2001	We found no evidence that the dopamine D3 receptor gene is likely to confer susceptibility to the development of tardive dyskinesia in Chinese patients with schizophrenia.	Case:65 Schizophrenic patients with Tardive dyskinesia;Control:66 Schizophrenic patients without trardive dyskenesia										
121626	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	3	3q13.3	DRD3	115330246	115380589		Gorwood, P.  et al. 2001	11762133				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Pathologie-biologie. 2001 Nov;49(9):710-7	The genetics of addiction: alcohol-dependence andD3 dopamine receptor gene.		126451	16369	2	2001	There is good evidence that gene coding for the dopamine receptor D3 does not play a major role in the genetic vulnerability to alcoholism.	Case:131 French male alcholoic-patients (DSM III-R) criteria;Control:68 healthy controls, matched for sex and origins										
121627	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Lerer, B.  et al. 2002	12062911				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neuropsychopharmacology. 2002 Jul;27(1):105-19	Pharmacogenetics of tardive dyskinesia: combinedanalysis of 780 patients supports association with dopamine D3 receptor gene Ser9Gly polymorphism.		126451	16370	2	2002	These findings support a small but significant contribution of the DRD3 ser9gly polymorphism to TD susceptibility that is demonstrable over and above population effects and the effect of age and gender on the phenotype.	Cohort 780 patients (317 with TD and 463 without TD) 										
121622	Y	schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Szekeres, G.  et al. 2004	14681904				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):5-Jan	Role of dopamine D3 receptor (DRD3) and dopamine transporter (DAT) polymorphism in cognitive dysfunctions and therapeutic response to atypical antipsychotics in patients with schizophrenia.		126451	13813	2	2004	These results suggest that the S/S genotype of the DRD3 is associated with worse therapeutic response and more severe executive dysfunctions in patients with schizophrenia.	Cohort patients with schizophrenia 	clozapine olanzapine quetiapine risperidone									
121623		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Zhang, Z. J.  et al. 2003	12960753				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		China	CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2003 Sep;13(3):187-92	Interaction between polymorphisms of the dopamine D3 receptor and manganese superoxide dismutase genes in susceptibility to tardive dyskinesia.		126451	14016	2	2003	 These results indicate a possible synergistic effect of genetic factors influencing mitochondrial free radical scavenging and dopamine receptor function on the susceptibility to tardive dyskinesia.	Case:42 Chinese Han schizophrenic patients with persistent tardive dyskinesia;Control:59 Chinese Han schizophrenic patients consistently without tardive dyskinesia										
121624	Y	schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Meszaros, K.  et al. 2000	11063791				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatry research. 2000 Oct;96(2):179-83	Association study of schizophrenia spectrum disorders and dopamine D3 receptor gene: isschizoaffective disorder special?		126451	16366	2	2000	Our results possibly indicate an association of schizoaffective disorder with DRD3 homozygosity (P=0.056).	Control:120 healthy controls;Case:95 patients with schizophrenia and schizophrenia spectrum disorders										
121619		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Chong, S. A.  et al. 2003	12497614				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese	China	CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):51-4	Polymorphisms of dopamine receptors and tardive dyskinesia among Chinese patients with schizophrenia.		126451	10177	2	2003	Our results did not indicate that the D2 genotype has a role in the pathophysiology of TD in Chinese patients with schizophrenia. The association of TD with the serine/serine genotype of the DRD3 may be an epiphenomenon of patients with a subtype of schizophrenia who had more exposure to neuroleptics.	Case:117 Chinese patients with tardive dyskinesia;Control:200 patients without tardive dyskinesia										
121620	N	P300 event-related potentials	NEUROLOGICAL	NEUR		3	3q13.3	DRD3	115330246	115380589		Tsai, S. J.  et al. 2003	12605102				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatric genetics. 2003 Mar;13(1):51-3	Association analysis for dopamine D3 receptor, dopamine D4 receptor and dopamine transporter genetic polymorphisms and P300 event-related potentials for normal young females.		126451	10178	2	2003	 Our negative findings suggest that these genetic polymorphisms do not play a major role in the modulation of P300 event-related potentials.	Cohort 120 normal young Han-Chinese females 										
121621		depression	PSYCH	PSY	Obsessive-Compulsive Disorder|Personality Disorders	3	3q13.3	DRD3	115330246	115380589		Joyce, P. R.  et al. 2003	12860355				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Psychiatry research. 2003 Jul;119(2-Jan):10-Jan	Polymorphisms of DRD4 and DRD3 and risk of avoidant and obsessive personality traits and disorders.		126451	10187	2	2003	Our results suggest that genetic polymorphisms of DRD4 and DRD3 may well be associated with personality traits, and that conflicting findings to date may arise from the problem of phenotype definition.	Cohort 145 depressed patients 										
121616	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Lane, H. Y.  et al. 2005	15643094	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Journal of clinical psychopharmacology. 2005 Feb;25(1):11-Jun	Dopamine D3 receptor Ser9Gly polymorphism and risperidone response.		126451	10155	2	2005	These data suggest that the DRD3 Ser9Gly polymorphism or, alternatively, another genetic variation that is in linkage disequilibrium, may influence response to risperidone in negative symptoms and social functioning.	Cohort 123 Chinese Han patients with acutely exacerbated schizophrenia 	risperidone									
121617	Y	alcohol abuse; impulse control disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Mood Disorders|Antisocial Personality Disorder	3	3q13.3	DRD3	115330246	115380589		Limosin, F.  et al. 2005	15935433				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			European psychiatry. 2005 May;20(3):304-6	Association between dopamine receptor D3 gene BalI polymorphism and cognitive impulsiveness in alcohol-dependent men.		126451	10156	2	2005	Age at interview, antisocial personality disorder, other comorbid addictive disorder, age at onset of alcohol-dependence, and lifetime mood disorders did not constitute confusing intermediate factors.	Case:108 French alcoholic-dependent patients;Control:71 healthy controls										
121618		P300 potentials	NEUROLOGICAL	NEUR		3	3q13.3	DRD3	115330246	115380589			16395310	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Neuropsychopharmacology. 2006	A Ser9Gly Polymorphism in the Dopamine D3 Receptor Gene (DRD3) and Event-Related P300 Potentials		126451	10158	2	2006												
121613	N	blood pressure, arterial; nephropathy in other diseases	CARDIOVASCULAR	CARD	Diabetic Neuropathies|Diabetes Mellitus, Type 1	3	3q13.3	DRD3	115330246	115380589		Pettersson-Fernholm, K. J.  et al. 2004	15004255				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Finland	CDC GDPinfo	1814	Hs.121478			Nephrology, dialysis, transplantation. 2004 Jun;19(6):1432-6	Dopamine D3 receptor gene polymorphisms, blood pressure and nephropathy in type 1 diabetic patients.		126451	10152	2	2004	 These results do not provide evidence for an involvement of the dopamine D3 receptor gene in blood pressure levels or in the pathogenesis of diabetic nephropathy in type 1 diabetic patients.	Cohort 996 type 1 diabetic patients from the multicentre, nationwide FinnDiane Study 										
121614		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589			15553379	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Russian		CDC GDPinfo	1814	Hs.121478			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2004 ;104(10):57-61	[D3 dopamine receptor gene Ser9Gly polymorphism in Russian patients with schizophrenia]		126451	10153	2	2004	A role of sex-dependent association between Ser9Gly DRD3 polymorphism and schizophrenia is discussed.	Control:150 healthy subjects without family history of schizophrenia, 60 male and 90 female, aged 32.7+/-13.5 years;Case:150 patients with schizophrenia, 69 male and 81 female, aged 34.8+/-13.87 years, age at disease onset 24.3+/-9 years										
121615	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Staddon, S.  et al. 2005	15567076				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Spain	CDC GDPinfo	1814	Hs.121478			Schizophrenia research. 2005 Feb;73(1):49-54	Association between dopamine D3 receptor gene polymorphisms and schizophrenia in an isolate population.		126451	10154	2	2005	These results may suggest that these polymorphisms exert a combined or synergistic effect on susceptibility to schizophrenia, or are in linkage with an unknown causative factor. However, further replication in independent samples is required.	Case:118 patients with schizophrenia or schizoaffective:disorder Navarra, Northern Spain;Control:162:controls										
121610	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Szekeres, G.  et al. 2002	12632798				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Ideggyogy Sz. 2002 Nov;55(12-Nov):377-81	[Correlation between the effectiveness of atypical antipsychotics and dopamine D3 receptor polymorphism in schizophrenia]		126451	10148	2	2002	 Based on our results, the worse therapeutic response to atypical antipsychotics is associated with Ser9 variant of dopamine D3 receptor.	Control:45 healthy controls;Case:75 patients with schizophrenia	antipsychotic drug									
121611	Y	impulse control disorder	PSYCH	PSY	Impulse Control Disorders|Attention Deficit Disorder with Hyperactivity	3	3q13.3	DRD3	115330246	115380589		Retz, W.  et al. 2003	12721816				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			J Neural Transm. 2003 May;110(5):561-72	Dopamine D3 receptor gene polymorphism and violent behavior: relation to impulsiveness andADHD-related psychopathology.		126451	10149	2	2003	The results of our study suggest that variations of the DRD3 gene are likely involved in the regulation of impulsivity and some psychopathological aspects of ADHD related to violent behavior.	Case violent offenders;Control non-violent individuals										
121612	N	cocaine abuse	CHEMDEPENDENCY	CHEM		3	3q13.3	DRD3	115330246	115380589		Freimer, M.  et al. 1996	12893467				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Addiction biology. 1996 ;1(3):281-7	No association between D3 dopamine receptor (DRD3) alleles and cocaine dependence.		126451	10151	2	1996	These results are consistent with no role for genetic variation of the D3 dopamine receptor in susceptibility to cocaine dependence.	Control local (Connecticut) control subjects for both groups, and with a larger sample of literature controls (for the white subjects) and a contrast group of schizophrenic patients (for the black:subjects);Case:61/62 white (n=62) and black (n=62) cocaine-dependent:individuals										
121607	Y	eye movement disturbances	PSYCH	PSY	Ocular Motility Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Rybakowski, J. K.  et al. 2001	11673801				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Molecular psychiatry. 2001 Nov;6(6):718-24	Dopamine D3 receptor (DRD3) gene polymorphism is associated with the intensity of eye movement disturbances in schizophrenic patients and healthy subjects.		126451	10143	2	2001	We suggest that the DRD3 Ser9Gly polymorphism may be a contributing factor to the performance of eye movements used as a phenotypic marker of schizophrenia.	Case:119 schizophrenic patients;Control:94 unrelated healthy control subjects										
121608	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q13.3	DRD3	115330246	115380589		Soma, M.  et al. 2002	11796958	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Japanese	Japan	CDC GDPinfo	1814	Hs.121478			Medical science monitor. 2002 Jan;8(1):CR1-4	Ser9Gly polymorphism in the dopamine D3 receptor gene is not associated with essential hypertension in the Japanese.		126451	10144	2	2002	 The Ser9Gly polymorphism in the DRD3 gene are not associated with EH. However, our negative result does not exclude the possibility of another variant elsewhere in or near the DRD3 gene in EH.	Case:181 Japanese patients with essential hypertension, with a positive family history of hypertension:Japan;Control:181 age-matched subjects with normal blood pressure, with no family history of hypertension:Japan										
121609	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Woo, S. I.  et al. 2002	12109967	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Korean	Korea	CDC GDPinfo	1814	Hs.121478			Psychiatry and clinical neurosciences. 2002 Aug;56(4):469-74	Association of the Ser9Gly polymorphism in the dopamine D3 receptor gene with tardive dyskinesia in Korean schizophrenics.		126451	10147	2	2002	In conclusion, we suggest that Gly/Gly homozygotes in the MscI polymorphic site of the dopamine D3 receptor gene may cause some change in the function of the dopamine D3 receptor and may be involved the pathogenesis of TD.	Control:54 schizophrenic patients without TD;Case:59 schizophrenic patients with TD										
121604		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Elvidge, G.  et al. 2001	11378841				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics. 2001 May;105(4):307-11	Allelic variation of a BalI polymorphism in the DRD3 gene does not influence susceptibility to bipolar disorder: results of analysis andmeta-analysis.		126451	10139	2	2001	We conclude that  variation at the BalI RFLP is not an important factor influencing the susceptibility to bipolar disorder. It remains possible, however, that other sequence variations within the DRD3 gene could play a role.	Control:225 recruited from family practitioner clinics (n=119) and blood transfusion centers (n=106), group matched for age and sex;Case:229 bipolar disorder										
121605	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Cordeiro, Q. Jr et al. 2001	11400029	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			Arquivos de neuro-psiquiatria. 2001 Jun;59(2-A):219-22	[Study of association between the ser-9-gly polymorphism of the D3 dopaminergic receptor and schizophrenia]		126451	10140	2	2001	We conclude that  this D3 polymorphism is not a risk factor for schizophrenia in our sample.	Case:141 schizophrenic patients;Control:189 matched controls										
121606	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Liao, D. L.  et al. 2001	11490179	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		CDC GDPinfo	1814	Hs.121478			Neuropsychobiology. 2001 ;44(2):95-8	Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients.		126451	10142	2	2001	Our results are in line with a previous report, the results of which suggest that the presence of the DRD3(ser-gly) genotype may be a risk factor for the development of TD in patients treated with antipsychotics.	Cohort 115 schizophrenic patients from chronic wards 										
121601	N	alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Recurrence	3	3q13.3	DRD3	115330246	115380589		Wiesbeck GA 2003	12811641				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			J Neural Transm. 2003 Jul;110(7):813-20	Dopamine D2 (DAD2) and dopamine D3 (DAD3) receptor gene polymorphisms and treatment outcome in alcohol dependence.		126451	2230	1	2003	In conclusion, we found no evidence that the DAD2 or DAD3 gene variants investigated have a major influence on treatment outcome in primary alcohol dependence.	Cohort individuals suffering from primary alcohol dependence										
121602	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	3	3q13.3	DRD3	115330246	115380589	n	Wang J 2004	14732464	Ser9Gly and Msp1			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		KGB	1814	Hs.121478	visual hallucinations		Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126451	2231	1	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121603	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Kremer, I.  et al. 2000	11121180				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics. 2000 Dec;96(6):778-80	No association between the dopamine D3 receptor Bal I polymorphism and schizophrenia in a family-based study of a Palestinian Arab population.		126451	10138	2	2000	We failed to obtain any evidence in 129 Palestinian triads, using the haplotype relative risk (allele	Cohort 129 Palestinian triads 										
121597		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Dubertret C et al. 1998	9674978				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	caucasian		KGB	1814	Hs.121478			American journal of medical genetics. 1998 Jul;81(4):318-22	Meta-analysis of DRD3 gene and schizophrenia: ethnic heterogeneity and significant association in Caucasians.		126451	2226	1	1998												
121598	N	mood disorder	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589	n	Serretti A et al. 1998	11281956			other	Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Italian (Caucasian)		SERRETTI	1814	Hs.121478	bipolar and major depression		The international journal of neuropsychopharmacology. 1998 Dec;1(2):125-129	Dopamine receptor D3 gene and response to lithium prophylaxis in mood disorders		126451	2227	1	1998		Case:BP: 43; UP: 12										
121599	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Yang L et al. 1993	8103292				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1993 Jul;48(2):83-6	No association between schizophrenia and homozygosity at the D3 dopamine receptor gene.		126451	2228	1	1993												
121600	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	3	3q13.3	DRD3	115330246	115380589	n	Marino C 2003	14505070				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Italy	KGB	1814	Hs.121478			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126451	2229	1	2003												
121593	Y	bipolar disorder	PSYCH	PSY	Alcoholism|Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Parsian A et al. 1995	7573178				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1995 Jun;60(3):234-7	Possible association between the dopamine D3 receptor gene and bipolar affective disorder.		126451	2222	1	1995												
121594	N	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	3	3q13.3	DRD3	115330246	115380589	n	Catalano M et al. 1994	7810583				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1994 Sep;54(3):253-5	Lack of association between obsessive-compulsive disorder and the dopamine D3 receptor gene: some preliminary considerations.		126451	2223	1	1994												
121595	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Liao DL et al. 2001	11490179	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		KGB	1814	Hs.121478			Neuropsychobiology. 2001 ;44(2):95-8	Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia in Chinese schizophrenic patients.		126451	2224	1	2001	Our results are in line with a previous report, the results of which suggest that the presence of the DRD3(ser-gly) genotype may be a risk factor for the development of TD in patients treated with antipsychotics.	Cohort 115 schizophrenic patients from chronic wards										
121589	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Shaikh S et al. 1996	8641685	Ser-9-Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Human genetics. 1996 Jun;97(6):714-9	Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophrenia.		126451	2218	1	1996												
121590	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	3	3q13.3	DRD3	115330246	115380589	n	Kahsar-Miller M et al. 1999	10065778				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Southeastern United States	KGB	1814	Hs.121478			Fertility and sterility. 1999 Mar;71(3):436-8	Dopamine D3 receptor polymorphism is not associated with the polycystic ovary syndrome.		126451	2219	1	1999												
121592	Y	schizophrenia	PSYCH	PSY	Schizotypal Personality Disorder|Psychotic Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Sabate O et al. 1994	7903510				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			The American journal of psychiatry. 1994 Jan;151(1):107-11	Failure to find evidence for linkage or association between the dopamine D3 receptor gene and schizophrenia.		126451	2221	1	1994	 The hypothesis that the DRD3 gene has a predisposing role in schizophrenia was not supported by these population and family studies. However, the possibility that this gene has a role in the etiology of the disease cannot be definitely excluded because of the intrinsic limitations of the methods of analysis and the number of subjects studied.											
121585	N	Anorexia Nervosa	PSYCH	PSY	Anorexia Nervosa	3	3q13.3	DRD3	115330246	115380589	n	Bruins- Slot L 1998	9442347	Bal I DRD3 polymorphism			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Biological psychiatry. 1998 Jan;43(1):76-8			126451	2214	1	1998	 Despite the fact that the number of patients tested is small, there is good evidence that the Bal I DRD3 polymorphism does not play a major role in the genetic component of anorexia nervosa. It would be useful to test polymorphisms of the other genes coding for dopamine receptors.	Case:39; Control:42										
121586		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Spurlock G et al. 1998	9514583				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1998 Feb;81(1):24-8	European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms.		126451	2215	1	1998												
121588	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	3	3q13.3	DRD3	115330246	115380589	n	Lee MS et al. 2002	12218663				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Korean	Korea	KGB	1814	Hs.121478			Psychiatric genetics. 2002 Sep;12(3):173-6	No association between the dopamine D3 receptor gene and Korean alcohol dependence.		126451	2217	1	2002	These results suggest that any role played by this receptor may account for only part of the variation in susceptibility to alcoholism.	Case:67 Korean alcoholic men;Control:67 age-matched normal male controls										
121581		schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Segman R et al. 1999	10395214				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Israel	KGB	1814	Hs.121478			Molecular psychiatry. 1999 May;4(3):247-53	Genotypic association between the dopamine D3 receptor and tardive dyskinesia in chronic schizophrenia.		126451	2210	1	1999												
121582	Y	schizophrenia	PSYCH	PSY	Ocular Motility Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Rybakowski JK et al. 2001	11673801				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Molecular psychiatry. 2001 Nov;6(6):718-24	Dopamine D3 receptor (DRD3) gene polymorphism is associated with the intensity of eye movement disturbances in schizophrenic patients and healthy subjects.		126451	2211	1	2001	We suggest that the DRD3 Ser9Gly polymorphism may be a contributing factor to the performance of eye movements used as a phenotypic marker of schizophrenia.	Case:119 schizophrenic patients;Control:94 unrelated healthy control subjects										
121584	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Ishiguro H et al. 2000	10889555				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Molecular psychiatry. 2000 Jul;5(4):433-8	Mutation and association analysis of the 5' region of the dopamine D3 receptor gene in schizophrenia patients: identification of the Ala38Thr polymorphism and suggested association between DRD3 haplotypes and schizophrenia.		126451	2213	1	2000												
121577		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Kalsi G et al. 1998	9800221				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Great Britain|Iceland	KGB	1814	Hs.121478			Psychiatric genetics. 1998 ;8(3):187-9	Tests of linkage allelic and genotypic association between schizophrenia and the gene for the D3 dopamine receptor DRD3.		126451	2206	1	1998												
121578	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Ebstein RP et al. 1997	9017973				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Human heredity. 1997 Jan-Feb;47(1):16-Jun	Evidence for an association between the dopamine D3 receptor gene DRD3 and schizophrenia.		126451	2207	1	1997												
121579	Y	schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Meszaros K et al. 2000	11063791				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Psychiatry research. 2000 Oct;96(2):179-83	Association study of schizophrenia spectrum disorders and dopamine D3 receptor gene: is schizoaffective disorder special?		126451	2208	1	2000	Our results possibly indicate an association of schizoaffective disorder with DRD3 homozygosity (P=0.056).	Control:120 healthy controls;Case:95 patients with schizophrenia and schizophrenia spectrum disorders										
121580		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Malhotra AK et al. 1998	9491816				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Molecular psychiatry. 1998 Jan;3(1):72-5	The dopamine D3 receptor (DRD3) Ser9Gly polymorphism and schizophrenia: a haplotype relative risk study and association with clozapine response.		126451	2209	1	1998												
121573		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Nimgaonkar VL et al. 1993	8135304				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1993 Dec;48(4):214-7	Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: probable effects of family history of schizophrenia?		126451	2202	1	1993												
121575	N	bipolar affective disorder.	PSYCH	PSY	Bipolar Disorder|Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Shaikh S et al. 1993	8098068				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Journal of medical genetics. 1993 Apr;30(4):308-9	The dopamine D3 receptor gene: no association with bipolar affective disorder.		126451	2204	1	1993												
121576	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q13.3	DRD3	115330246	115380589	n	Soma M et al. 2002	11796958	Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Japanese	Japan	KGB	1814	Hs.121478			Medical science monitor. 2002 Jan;8(1):CR1-4	Ser9Gly polymorphism in the dopamine D3 receptor gene is not associated with essential hypertension in the Japanese.		126451	2205	1	2002	 The Ser9Gly polymorphism in the DRD3 gene are not associated with EH. However, our negative result does not exclude the possibility of another variant elsewhere in or near the DRD3 gene in EH.	Case:181 Japanese patients with essential hypertension, with a positive family history of hypertension:Japan;Control:181 age-matched subjects with normal blood pressure, with no family history of hypertension:Japan										
121570	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	3	3q13.3	DRD3	115330246	115380589		Comings DE et al. 1993	8096616				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Lancet. 1993 Apr;341(8849):906	Association between Tourette's syndrome and homozygosity at the dopamine D3 receptor gene.		126451	2199	1	1993												
121571	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Anney RJ et al. 2002	12082567			promoter	Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Molecular psychiatry. 2002 ;7(5):493-502	Characterisation mutation detection and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia.		126451	2200	1	2002	No associations were observed with schizophrenia. In addition we failed to replicate previous findings of association with homozygosity of the Ser9Gly variant. The results from this study imply that neither the coding nor the regulatory region of DRD3 plays a major role in predisposition to schizophrenia.	Control matched controls;Case unrelated schizophrenic patients										
121572		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Nimgaonkar VL et al. 1996	8950407				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1996 Nov;67(6):505-14	Association study of schizophrenia and the dopamine D3 receptor gene locus in two independent samples.		126451	2201	1	1996												
121565	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Crocq MA et al. 1992	1362221				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Journal of medical genetics. 1992 Dec;29(12):858-60	Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.		126451	2194	1	1992												
121566	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Jonsson EG et al. 1999	10402502				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1999 Aug;88(4):352-7	Trend for an association between schizophrenia and D3S1310 a marker in proximity to the dopamine D3 receptor gene.		126451	2195	1	1999												
121567	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Basile VS et al. 1999	10379516				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Neuropsychopharmacology. 1999 Jul;21(1):17-27	Association of the MscI polymorphism of the dopamine D3 receptor gene with tardive dyskinesia in schizophrenia.		126451	2196	1	1999												
121568	N	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	3	3q13.3	DRD3	115330246	115380589	n	Devor EJ et al. 1998	9686422				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Psychiatric genetics. 1998 ;8(2):49-52	The Bal I and Msp I polymorphisms in the dopamine D3 receptor gene display linkage disequilibrium with each other but no association with Tourette syndrome.		126451	2197	1	1998												
121561	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589	n	Piccardi MP et al. 1997	9129711				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1997 Apr;74(2):137-9	No evidence of association between dopamine D3 receptor gene and bipolar affective disorder.		126451	2190	1	1997												
121562	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Staner L et al. 1998	9613861				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478	novelty-seeking		American journal of medical genetics. 1998 Mar;81(2):192-4	Association between novelty-seeking and the dopamine D3 receptor gene in bipolar patients: a preliminary report.		126451	2191	1	1998												
121563	Y	affective disorder	PSYCH	PSY	Depressive Disorder	3	3q13.3	DRD3	115330246	115380589		Dikeos DG et al. 1999	10697826				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Psychiatric genetics. 1999 Dec;9(4):189-95	Association between the dopamine D3 receptor gene locus (DRD3) and unipolar affective disorder.		126451	2192	1	1999												
121564	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Rothschild LG et al. 1996	8723055				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1996 Apr;67(2):232-4	No association detected between a D3 receptor gene-expressed variant and schizophrenia.		126451	2193	1	1996												
121557		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Asherson P et al. 1996	9118322				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Molecular psychiatry. 1996 May;1(2):125-32	Linkage association and mutational analysis of the dopamine D3 receptor gene in schizophrenia.		126451	2186	1	1996												
121558	Y	schizophrenia	PSYCH	PSY	Dyskinesias|Akathisia, Drug-Induced|Acute Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Eichhammer P et al. 2000	10893495				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Germany	KGB	1814	Hs.121478			American journal of medical genetics. 2000 Apr;96(2):187-91	Association of dopamine D3-receptor gene variants with neuroleptic induced akathisia in schizophrenic patients: a generalization of Steen's study on DRD3 and tardive dyskinesia.		126451	2187	1	2000												
121559		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Kennedy JL et al. 1995	8825896				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1995 Dec;60(6):558-62	Association study of dopamine D3 receptor gene and schizophrenia.		126451	2188	1	1995												
121560		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	3	3q13.3	DRD3	115330246	115380589		Zappia M et al. 2002	11889264				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478	motor fluctuations		Neurology. 2002 Mar;58(5):837; author reply 837-8	Association study of dopamine D2 D3 receptor gene polymorphisms with motor fluctuations in PD.		126451	2189	1	2002												
121553	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Jonsson E et al. 1993	8517175				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Acta psychiatrica Scandinavica. 1993 May;87(5):345-9	Lack of association between schizophrenia and alleles in the dopamine D3 receptor gene.		126451	2182	1	1993												
121554	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Griffon N et al. 1996	8678117				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1996 Feb;67(1):63-70	Dopamine D3 receptor gene: organization transcript variants and polymorphism associated with schizophrenia.		126451	2183	1	1996												
121555	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Williams J et al. 1998	9577838				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		Europe	KGB	1814	Hs.121478			Molecular psychiatry. 1998 Mar;3(2):141-9	A meta-analysis and transmission disequilibrium study of association between the dopamine D3 receptor gene and schizophrenia.		126451	2184	1	1998												
121556	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Chen CH et al. 1997	9034004				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1997 Feb;74(1):40-3	Further evidence of no association between Ser9Gly polymorphism of dopamine D3 receptor gene and schizophrenia.		126451	2185	1	1997												
121549	N	Alcohol Dependence	CHEMDEPENDENCY	CHEM	Alcoholism	3	3q13.3	DRD3	115330246	115380589	n	Gorwood P1995	8825889	DRD2 TaqI A1			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1995 Dec;60(6):529-31			126451	2178	1	1995												
121550	N	manic-depressive illness	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589	n	Gomez-Casero E et al. 1996	9149327				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Spanish		KGB	1814	Hs.121478			Psychiatric genetics. 1996 ;6(4):209-12	No association between particular DRD3 and DAT gene polymorphisms and manic-depressive illness in a Spanish sample.		126451	2179	1	1996												
121551	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	<0.05	Jonsson EG 2003	12605094				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Swedish		KEW	1814	Hs.121478			Psychiatric genetics. 2003 Mar;13(1):12-Jan	Dopamine D3 receptor gene Ser9Gly variant and schizophrenia: association study and meta-analysis.		126451	2180	1	2003	 Whereas the present Swedish case-control analysis did not yield any evidence for association with the diagnosis, the present meta-analysis suggests that the DRD3 gene confer susceptibility to schizophrenia. Reasons for the discrepancies between prior studies are discussed.	Case:156 Swedish patients with schizophrenia;Control:463 control subjects										
121545		cognitive impairment	PSYCH	PSY	Memory Disorders	11	11q23	DRD2	112785526	112851091		Bartres-Faz, D.  et al. 2002	12113906				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neuroscience letters. 2002 Jul;327(3):177-80	Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment.		126450	25959	2	2002	Multiple regression analyses showed that the APOC1 polymorphism was the only variable which predicted NAA/Cr values in basal ganglia. NAA/Cr metabolites in the medial temporal lobe but not in the basal ganglia region were related with lower performance in verbal memory.	Cohort 44 subjects with age-related memory impairment 										
121547		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Konishi, T.  et al. 2004	15318112				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Mexican	Los Angeles	CDC GDPinfo	1813	Hs.73893			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		126450	26844	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
121548		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Lerman, C.  et al. 2003	12627466				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		126450	27410	2	2003	Review article											
121542		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Iwata, Y.  et al. 2003	12497608				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Japanese		CDC GDPinfo	1813	Hs.73893			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		126450	24308	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
121543	Y	alcoholism; renal disease, end stage	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Connor, J. P.  et al. 2002	11918988				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Australia	CDC GDPinfo	1813	Hs.73893			European psychiatry. 2002 Mar;17(1):17-23	D(2) dopamine receptor (DRD2) polymorphism is associated with severity of alcohol dependence.		126450	25957	2	2002	In sum, alcohol-dependent patients with the DRD2 A(1) allele compared to patients without this allele are characterized by greater severity of their disorder across a range of problem drinking indices. The implications of these findings are discussed.	Cohort sample of Caucasian adults recruited from an alcohol detoxification unit ;Control:260 control subjects not otherwise specified in:abstract;Case:260 end stage renal disease patients										
121544		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Dick, D. M.  et al. 2003	12766633				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		126450	25958	2	2003	Review article											
121539		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	11	11q23	DRD2	112785526	112851091		Wieczorek, S.  et al. 2004	15309313				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Journal of molecular medicine (Berlin, Germany). 2004 Oct;82(10):696-705	Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.		126450	24305	2	2004	These results, although exploratory and still to be confirmed in independent samples, support a complex pathogenetic model for narcolepsy, including disturbances of neurotransmission rather than involvement of autoimmunity.	Cohort 254 narcolepsy subjects 										
121540		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	11	11q23	DRD2	112785526	112851091		de Leon, J.  et al. 2005	16160620				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		126450	24306	2	2005												
121541		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Koks, S.  et al. 2005	15927089				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			The international journal of neuropsychopharmacology. 2005	Analysis of SNP profiles in patients with major depressive disorder.		126450	24307	2	2005	Altogether we were able to find some nominal associations, but due to small sample size these results should be taken as exploratory. However, the effect of GAGT haplotype on the CCKAR gene may be considered as increasing the risk for MDD.	Control:160 healthy controls;Case:177 patients with major depressive disorder										
121536		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Rybakowski, J. K.  et al. 2005	15785860				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			J Neural Transm. 2005 Nov;112(11):1575-82	An association study of dopamine receptors polymorphisms and the Wisconsin Card Sorting Test in schizophrenia.		126450	21159	2	2005	The results may suggest an association between DRD1 gene polymorphism and performance on PFC test in schizophrenia. Also, the gender-dependent role of DRD2 in this process may be presumed.	Cohort 138 schizophrenic patients 										
121537		panic disorder; migraine	PSYCH	PSY	Migraine without Aura|Panic Disorder	11	11q23	DRD2	112785526	112851091		Stochino, M. E.  et al. 2003	12967601				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Italy	CDC GDPinfo	1813	Hs.73893			Pharmacological research. 2003 Nov;48(5):531-4	Association study between the phenotype migraine without aura-panic disorder and dopaminergic receptor genes.		126450	21160	2	2003	This result does not seem to support, in our limited sample, a common pathological basis, with regard to the dopaminergic system, between migraine and panic. Should migraine and panic disorder share some common mechanisms, these could be sought in neuro-chemical systems other than the dopaminergic one.	Cohort 100 probands suffereing from migraine without aura 										
121538		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Comings, D. E.  et al. 2003	12712467				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		126450	24304	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
121533		alcoholism; cirrhosis	CHEMDEPENDENCY	CHEM	Hepatitis C|Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Pastorelli, R.  et al. 2001	11236836				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Italian	Italy	CDC GDPinfo	1813	Hs.73893			Alcoholism, clinical and experimental research. 2001 Feb;25(2):221-7	Genetic determinants of alcohol addiction and metabolism: a survey in Italy.		126450	21156	2	2001	 Overall, our results provided no evidence of an increased susceptibility to develop alcoholism that was associated with the three genotypes investigated, either alone or in combination. An increased risk of developing liver cirrhosis for S/S homozygous carriers among alcohol-dependent patients was observed for the first time.	Case:60 alcoholics admitted to a specialized referral:center:Florence, Italy;Control:64 blood donors from the same hospital:Florence, Italy	alcohol smoking (tobacco)									
121534		smoking behavior	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Freire, M. T.  et al. 2005	16032443				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			European archives of psychiatry and clinical neuroscience. 2005	Polymorphisms in the DBH and DRD2 gene regions and smoking behavior.		126450	21157	2	2005												
121535	N	smoking behavior	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Johnstone, E. C.  et al. 2004	15077009				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Pharmacogenetics. 2004 Feb;14(2):83-90	Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch		126450	21158	2	2004	There was no association between patch effectiveness and DRD2 exon 8. Short-term effectiveness of the nicotine patch may be related to dopamine beta-hydroxylase and dopamine D2 receptor genotype. Our results support the need for further investigation into personalized therapies for smoking cessation based on individual genotype.	Cohort 1,532 of the 1612 subjects still available from a 1991-1993 randomized control trial 										
121530	N	bipolar disorder; major depressive disorder; rapid cycling mood disorder	PSYCH	PSY	Mood Disorders	11	11q23	DRD2	112785526	112851091		Cusin, C.  et al. 2002	11992560				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.		126450	21153	2	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
121531		schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Yamanouchi, Y.  et al. 2003	14610521				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Japanese		CDC GDPinfo	1813	Hs.73893			The pharmacogenomics journal. 2003 ;3(6):356-61	Effect of DRD2, 5-HT2A, and COMT genes on antipsychotic response to risperidone.		126450	21154	2	2003	These results should be treated with caution because of limitations due to small sample size, heterogeneity of patients with respect to past antipsychotic use history, and no correction for multiple corrections. However, the present findings generate important hypotheses in a sample of Japanese schizophrenia patients that may lay the foundation for future pharmacogenomics investigations in other populations.	Cohort 73 Japanese patients with schizophrenia 	risperidone									
121532		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Munafo, M.  et al. 2004	15370155				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Nicotine & tobacco research. 2004 Aug;6(4):583-97	The genetic basis for smoking behavior: asystematic review and meta-analysis.		126450	21155	2	2004	The evidence for a contribution of specific genes to smoking behavior remains modest. Implications for the design of future studies are discussed, such as the need for the development of more specific phenotypes to increase the genetic signal in candidate gene studies.	Cohort individuals from 28 studies on smoking behavior 										
121527		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11q23	DRD2	112785526	112851091		Zhang, Z.  et al. 2003	12673575				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese		CDC GDPinfo	1813	Hs.73893			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):98-102	[Pharmacogenetic assessment of antipsychotic-induced tardive dyskinesia:contribution of 5-hydroxytryptamine 2C receptor gene and of a combination of dopamine D3 variant allele (Gly) and MnSOD wild allele (Val)]		126450	19667	2	2003	 The excess of -697 variant in the promoter regulation region of the HTR2C gene may be a risk factor for the susceptibility to the occurrence of TD in Chinese male patients with schizophrenia. A combination of DRD3 variant allele (Gly) and MnSOD wild allele (Val) may increase the susceptibility to the development of TD.	Case:42 schizophrenics with persistent tardive dyskinesia;Control:59 schizophrenics without tardive dyskinesia										
121528		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	11	11q23	DRD2	112785526	112851091		Lerer, B.  et al. 2002	12366879				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		126450	21151	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
121529	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Matsushita, S.  et al. 2001	11600186				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Japan	CDC GDPinfo	1813	Hs.73893			Psychiatry research. 2001 Oct;104(1):19-26	Alcoholism, ALDH2*2 allele and the A1 allele of the dopamine D2 receptor gene: an association study		126450	21152	2	2001	Although there remains a possibility that the DRD2 TaqI A polymorphism plays some role in modifying the phenotype of the disease, these results suggest that neither the A1 allele nor the homozygous A1 genotype is associated with alcoholism.	Control:295 unrelated controls:Japan;Case:583:alcoholics:Japan										
121524	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease|Depressive Disorder	11	11q23	DRD2	112785526	112851091		Audrain-McGovern, J.  et al. 2004	15229055				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Virginia	CDC GDPinfo	1813	Hs.73893			The American journal of psychiatry. 2004 Jul;161(7):1224-30	Interacting effects of genetic predisposition and depression on adolescent smoking progression.		126450	19527	2	2004	 These results provide the first evidence, to the authors' knowledge, for an association of the DRD2 A1 allele with smoking progression among adolescents. This effect is potentiated by depression symptoms. These effects appear to be specific to adolescents who have had at least some nicotine exposure (i.e., at least a puff of a cigarette).	Cohort 615 adolescents, including those who had never smoked, and in a subgroup including only adolescents who had been exposed to nicotine (i.e., smoked at least a puff of a cigarette) (N=292) 										
121525		attention deficit hyperactivity disorder	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Bobb, A. J.  et al. 2004	15457500				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			American journal of medical genetics. 2004 Sep;{}:	Molecular genetic studies of ADHD: 1991 to 2004.		126450	19529	2	2004	All candidate gene approaches continue to face the problem of relatively low power, given modest odds ratios for even the best replicated genes.	Control:controls;Case attention deficit hyperactivity disorder cases										
121526	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091		Auerbach, J. G.  et al. 2001	11409697				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatric genetics. 2001 Mar;11(1):31-5	DRD4 related to infant attention and information processing: a developmental link to ADHD?		126450	19549	2	2001	Our results provide evidence for a possible developmental link between DRD4 and ADHD via early sustained attention and information processing.	Cohort not defined in abstract 		DRD4	exon III	5-HTTLPR				Y		attention deficit hyperactivity disorder
121521	Y	cognitive function	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Tsai, S. J.  et al. 2002	11979061				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neuropsychobiology. 2002 ;45(3):128-30	Dopamine D2 receptor and N-methyl-D-aspartate receptor 2B subunit genetic variants and intelligence.		126450	17002	2	2002	These results suggest that genetic variants of the DRD2 gene may play a role in cognitive function. Considering the major role played by the dopaminergic system in general cognitive function, genetic variants of the dopamine receptors and those involved in metabolism and modulation of reuptake should be tested to improve gene-based prediction of general cognitive function.											
121522		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11q23	DRD2	112785526	112851091		Li, T.  et al. 2002	11920858				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	CDC GDPinfo	1813	Hs.73893			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		126450	17576	2	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
121523		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Kelada, S. N.  et al. 2002	12428723			intron	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neurotoxicology. 2002 Oct;23(5-Apr):515-9	Gender difference in the interaction of smoking and monoamine oxidase B intron 13 genotype in Parkinson's disease		126450	18120	2	2002	These results suggest that a strong gender difference exists with respect to the modifying effect of MAO-B genotype on the smoking association with PD.	Case:186 incident idiopathic Parkinson's disease cases;Control:296 age- and gender-matched controls	smoking (tobacco)									
121518		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Psychotic Disorders	11	11q23	DRD2	112785526	112851091		Chen, C. K.  et al. 2004	15564898				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatric genetics. 2004 Dec;14(4):223-6	Association analysis of dopamine D2-like receptor genes and methamphetamine abuse.		126450	16413	2	2004	 Chance fluctuations in the frequency of rare alleles and ascertainment differences in the case and control samples cannot be ruled out. Therefore, further studies of the seven-repeat allele in MAMP abusers and controls should be performed before an association can be established.	Case:154 individuals with methamphetamine-induced psychosis;Control:252 methamphetamine users with no psychosis;Case:416 methamphetamine abusers from a hospital and a detention center:Taipei;Control:435:controls										
121519	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Hopfer, C. J.  et al. 2005	15845322				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Drug and alcohol dependence. 2005 May;78(2):187-93	Genetic influences on quantity of alcohol consumed by adolescents and young adults.		126450	16419	2	2005	 Genetic influence on drinking behavior was common in adolescents longitudinally assessed 1 year apart, but was less correlated between these adolescents and their assessment as young adults at a subsequent time point. Polymorphisms in genes of the dopaminergic system appear to influence variation in drinking behavior.	Cohort 4,432 youth assessed during adolescence (mean age of 16) and then 1 and 6 years later 										
121520	Y	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease|Mood Disorders	11	11q23	DRD2	112785526	112851091		Young, R. M.  et al. 2004	15296817				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatry research. 2004 Jul;127(3):171-83	Alcohol-related expectancies are associated with the D(2) dopamine receptor and GABA(A) receptor beta3 subunit genes		126450	16841	2	2004	Biological influence in the development of some classes of cognitions is hypothesized. The clinical implications, particularly with regard to patient-treatment matching and the development of an integrated psychological and pharmacogenetic approach, are discussed.	Cohort 56 medically ill patients diagnosed with alcohol dependence 										
121515	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11q23	DRD2	112785526	112851091		Segman, R. H.  et al. 2003	14583797				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			The pharmacogenomics journal. 2003 ;3(5):277-83	Association of dopaminergic and serotonergic genes with tardive dyskinesia in patients with chronic schizophrenia.		126450	16402	2	2003	No significant associations were found. Within the limitations imposed by the size of the clinical sample, these findings suggest that the above polymorphic loci do not contribute significantly to risk for TD. Further examination of loci that yielded positive results at a trend level and investigation of other candidate genetic loci coding for antipsychotic drug targets is warranted.	Case:59 schizophrenic patients with tardive dyskinesia:patients;Control:63 schizophrenic patients without tardive dyskinesia										
121516		Tourette syndrome	PSYCH	PSY	Tourette Syndrome	11	11q23	DRD2	112785526	112851091		Diaz-Anzaldua, A.  et al. 2004	15094788				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Canadian	Quebec	CDC GDPinfo	1813	Hs.73893			Molecular psychiatry. 2004 Mar;9(3):272-7	Tourette syndrome and dopaminergic genes: afamily-based association study in the French Canadian founder population.		126450	16404	2	2004	These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.	Cohort 110 French Canadian Tourette syndrome patients 										
121517	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11q23	DRD2	112785526	112851091		Lattuada, E.  et al. 2004	15383158				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			The international journal of neuropsychopharmacology. 2004 Dec;7(4):489-93	Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association studywith repeated assessment.		126450	16410	2	2004	We did not observe any significant association for the DRD2 and DRD3 polymorphisms.	Cohort 84 patients with residual schizophrenia 										
121512	N	bipolar disorder	PSYCH	PSY	Sleep Deprivation|Bipolar Disorder	11	11q23	DRD2	112785526	112851091		Benedetti, F.  et al. 2003	12834818				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatry research. 2003 Jun;118(3):241-7	Dopamine receptor D2 and D3 gene variants are not associated with the antidepressant effect of total sleep deprivation in bipolar depression.		126450	16375	2	2003	Consideration of possible stratification effects such as gender, age at onset and duration of illness did not reveal any association either. The tested gene variants are not a main factor influencing TSD outcome in bipolar disorder.	Cohort 124 depressed inpatients affected by bipolar disorder 	sleep deprivation									
121513		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Wodarz, N.  et al. 2003	14628173				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Germany	CDC GDPinfo	1813	Hs.73893			Archives of women\s mental health. 2003 Nov;6(4):225-30	The candidate gene approach in alcoholism: arethere gender-specific differences?		126450	16376	2	2003	Our results demonstrate that a varying sex distribution in the samples investigated might contribute to the heterogeneous results reported in association studies for candidate genes in alcoholism and, therefore, should be taken into account in future studies.	Cohort a large sample of primary alcoholics 										
121514	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Serretti, A.  et al. 2001	11728608				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatry research. 2001 Nov;104(3):195-203	No association between dopamine D(2) and D(4) receptor gene variants and antidepressant activity of two selective serotonin reuptake inhibitors		126450	16388	2	2001	The investigated DRD2 and DRD4 gene variants therefore do not seem to play a major role in the antidepressant activity of SSRIs, at least in the present sample.	Cohort 364 inpatients affected by a major depressive episode treated with fluvoxamine, 300 mg/day (n=266), or paroxetine, 20-40 mg/day (n=98). 	fluvoxamine paroxetine									
121509	Y	temperament	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Lakatos, K.  et al. 2003	12556912			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Molecular psychiatry. 2003 Jan;8(1):90-7	Association of D4 dopamine receptor gene and serotonin transporter promoter polymorphisms with infants' response to novelty		126450	13885	2	2003	These genotype effects were not redundant with the previously reported association between the 7-repeat DRD4 allele and disorganized attachment behavior. Although both temperament and attachment behavior were affected by the DRD4 repeat polymorphism, the effect on temperament measures was modified by the infants' 5-HTTLPR genotype.	Cohort 90 infants 										
121510	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Dubertret, C.  et al. 2001	11343878				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	French		CDC GDPinfo	1813	Hs.73893			Schizophrenia research. 2001 Apr;49(2-Jan):203-12	Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients.		126450	16363	2	2001	As the haplotype contains nearly the entire DRD2 gene, we found convergent evidence in our sample for a significant role of the DRD2 gene in the risk for schizophrenia. This haplotype may be more specifically involved in the disorder's onset at a later age in some patients, or, alternatively, may be implicated as a modifying factor acting on age of onset.	Control:100:parents;Control:50 healthy, matched controls;Case:50 patients diagnosed with schizophrenia										
121511	N	substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	11	11q23	DRD2	112785526	112851091		Young, R. M.  et al. 2004	15345265				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Addictive behaviors. 2004 Sep;29(7):1275-94	Advances in molecular genetics and the prevention and treatment of substance misuse: Implications ofassociation studies of the A(1) allele of the D(2) dopamine receptor gene		126450	16365	2	2004	The data did not support a significant association between the A(1) allele and personality features. While the specific mechanism underlying these associations requires further elucidation, this genetic marker shows promise as a marker of brain reinforcement processes. Possible ways of utilising the A(1) allele to inform prevention and treatment initiatives are discussed.											
121506		schizophrenia; opium abuse	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091		Vieyra, G.  et al. 2003	12708251				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Rev Med Chil. 2003 Feb;131(2):135-43	[Distribution of DRD4 and DAT1 alleles from dopaminergic system in a mixed Chilean population]		126450	13807	2	2003	In a Chilean population sample, the frequency of DRD4 and DAT1 alleles was very similar to that of European populations.	Cohort 100 blood donors in two public hospitals in Santiago Santiago, Chile 										
121507		smoking behavior	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Lerman, C.  et al. 2003	14570538				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Health psychology. 2003 Sep;22(5):541-8	Effects of dopamine transporter and receptor polymorphisms on smoking cessation in a bupropion clinical trial.		126450	13812	2	2003	These results provide the first evidence from a prospective clinical trial that genes that alter dopamine function may influence smoking cessation and relapse during the treatment phase.	Cohort 418 smokers of European ancestry 	bupropion									
121508		smoking behavior	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Erblich, J.  et al. 2005	15381926				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	African American		CDC GDPinfo	1813	Hs.73893			Molecular psychiatry. 2005 Apr;10(4):407-14	Effects of dopamine D2 receptor (DRD2) and transporter (SLC6A3) polymorphisms on smoking cue-induced cigarette craving among African-American smokers.		126450	13820	2	2005				DRD2	D2 dopamine receptor	TaqI	A1 RFLP	SLC6A3	9-repeat VNTR	Y	smoking (cigarettes)	Cigarette craving among African-American smokers.
121503	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Lane, H. Y.  et al. 2004	15140279	Ser311Cys			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			The international journal of neuropsychopharmacology. 2004 Dec;7(4):461-70	Effects of dopamine D2 receptor Ser311Cys polymorphism and clinical factors on risperidone efficacy for positive and negative symptoms and social function.		126450	11462	2	2004	The preliminary results suggest that variations in the DRD2 gene influence risperidone treatment response for positive, negative, and cognitive symptoms, general psychopathology, and social functioning. Several clinical factors may also contribute to inter-individual differences in risperidone treatment response.	Cohort 123 Han Chinese patients with acutely exacerbated schizophrenia 	risperidone	HTR2A	T102C	DRD2	Ser311Cys			Y		risperidone efficacy for positive and negative symptoms of schizophrenia
121504		smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Costa-Mallen, P.  et al. 2005	15955630			intron	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Washington	CDC GDPinfo	1813	Hs.73893			Neuroscience letters. 2005 Sep;385(2):158-62	Genotype combinations for monoamine oxidase-B intron 13 polymorphism and dopamine D2 receptor TaqIB polymorphism are associated with ever-smoking status among men.		126450	12304	2	2005			smoking (tobacco)									
121505	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	11	11q23	DRD2	112785526	112851091		Chen, W. J.  et al. 2001	11807408			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	CDC GDPinfo	1813	Hs.73893			Psychiatric genetics. 2001 Dec;11(4):187-95	Genetic polymorphisms of the promoter region of dopamine D2 receptor and dopamine transporter genes and alcoholism among four aboriginal groups and Han Chinese in Taiwan.		126450	13797	2	2001	The results suggest that both the DRD2 promoter region and the DAT gene do not play a significant role in conferring vulnerability to alcoholism.	Case:203 alcohol dependents with withdrawal symptoms among four aboriginal groups (Atayal, Ami, Bunun, and Paiwan) and Han Chinese in Taiwan.:Taiwan;Control:213 sex- and ethnicity-matched individuals who were screened to exclude those with alcohol problems among four aboriginal groups (Atayal, Ami, Bunun, and Paiwan) and Han Chinese in Taiwan.										
121500	N	hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	11	11q23	DRD2	112785526	112851091		Wang, J.  et al. 2004	14732464				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126450	10224	2	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121501	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Konishi, T.  et al. 2004	15066703				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Mexican		CDC GDPinfo	1813	Hs.73893			Alcohol (Fayetteville, NY). 2004 Jan;32(1):45-52	Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans.		126450	10782	2	2004	Our findings indicate that the DRD2 -141C Ins allele and the 5-HTTLPR S allele are genetic risk factors for alcoholism in Mexican-Americans, and that smoking modulates the association between genetic risk factors and alcoholism.	Case:130 Mexican-American alcoholic men;Control:251 nonalcoholic control subjects (105 men and 146:women)										
121502		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	11	11q23	DRD2	112785526	112851091		Foley, P. F.  et al. 2004	15542698				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian		CDC GDPinfo	1813	Hs.73893			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		126450	10893	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls		DRD2	TaqI	GABAA	beta2	EAAT2	G603A	Y	consumption of alcohol	alcoholism cirrhosis
121497		Parkinson's disease; sleep disorders	NEUROLOGICAL	NEUR	Parkinson Disease|Disorders of Excessive Somnolence|Narcolepsy|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Rissling, I.  et al. 2004	15390060				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Movement disorders. 2004 Nov;19(11):1279-84	Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks".		126450	10201	2	2004	No significant association between two other investigated polymorphisms and the phenomenon of "sleep attacks" in PD was observed.	Case:137 Parkinson's disease patients with sudden onset of:sleep;Control:137 Parkinson's disease patients without sudden onset of sleep matched according to drug therapy, disease duration, sex, and age										
121498	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11q23	DRD2	112785526	112851091		Leszczynska-Rodziewicz, A.  et al. 2005	15917720				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Polish		CDC GDPinfo	1813	Hs.73893			Medical science monitor. 2005 Jun;11(6):CR289-295	Lack of association between polymorphisms of dopamine receptors, type D2, and bipolar affective illness in a Polish population.		126450	10210	2	2005	 The results suggests that the studied gene variants of type D2 dopamine receptors are not promising candidate genes for bipolar affective illness. We did not consider the family history of the examined subjects, and also the control group was not psychiatrically screened, which may contribute to the lack of significant results.	Case:339 Polish bipolar patients;Control:366:controls										
121499		Parkinson's disease; bipolar disorder	NEUROLOGICAL	NEUR		11	11q23	DRD2	112785526	112851091		Wang, J.  et al. 2000	11024217				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Zhonghua yi xue yi chuan xue za zhi. 2000 Oct;17(5):348-51	Dopamine receptor gene polymorphisms in Guangzhou Hans.		126450	10220	2	2000	 The polymorphisms of DRD2, DRD3, DRD5 gene in Guangzhou Hans were high and different from those in other populations.	Cohort 141 healthy Guangzhou Hans China 										
121494	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dyskinesia, Drug-Induced|Psychoses, Substance-Induced	11	11q23	DRD2	112785526	112851091		Kaiser, R.  et al. 2003	12796525				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neurology. 2003 Jun;60(11):1750-5	L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism.		126450	10185	2	2003	 Genetic variations of the DRD2, DRD3, and DRD4 do not influence the occurrence of L -dopa-induced adverse effects. However, the nine copy allele 40-bp VNTR of the DAT is a predictor for the occurrence of psychosis or dyskinesia in L -dopa-treated patients.	Cohort 183 patients with Parkinson's disease 	L-dopa									
121495		personality disorders	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Munafo, M. R.  et al. 2003	12808427				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Molecular psychiatry. 2003 May;8(5):471-84	Genetic polymorphisms and personality in healthy adults: a systematic review and meta-analysis.		126450	10186	2	2003	Implications for the design of future association studies of human personality are discussed, including the likely sample sizes that will be required to achieve sufficient power and the potential role of moderating variables such as sex.	Cohort individuals from 46 studies contributed to the analysis 										
121496		personality disorders	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Lee, H. J.  et al. 2003	12898574				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Korean		CDC GDPinfo	1813	Hs.73893			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):44-9	D2 and D4 dopamine receptor gene polymorphisms and personality traits in a young Korean population.		126450	10189	2	2003	These results, thus, confirmed the previous findings in which the long repeats of the DRD4-exon III polymorphism are related to NS personality trait, and also suggested that the DRD2 less frequent alleles were also associated with the reward-dependent trait.	Cohort 243 young alcohol- and drug-na????ve Koreans who were blood-unrelated Korea 										
121491	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Recurrence	11	11q23	DRD2	112785526	112851091		Wiesbeck, G. A.  et al. 2003	12811641				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			J Neural Transm. 2003 Jul;110(7):813-20	Dopamine D2 (DAD2) and dopamine D3 (DAD3) receptor gene polymorphisms and treatment outcome in alcohol dependence		126450	10150	2	2003	In conclusion, we found no evidence that the DAD2 or DAD3 gene variants investigated have a major influence on treatment outcome in primary alcohol dependence.	Cohort individuals suffering from primary alcohol dependence 										
121492		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Messas, G.  et al. 2005	16094250				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatric genetics. 2005 Sep;15(3):171-4	Association study of dopamine D2 and D3 receptor gene polymorphisms with cocaine dependence.		126450	10157	2	2005												
121493	N	methamphetamine abuse	PSYCH	PSY	Amphetamine-Related Disorders	11	11q23	DRD2	112785526	112851091		Tsai, S. J.  et al. 2002	11901357				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	CDC GDPinfo	1813	Hs.73893			Psychiatric genetics. 2002 Mar;12(1):29-33	No association for D2 and D4 dopamine receptor polymorphisms and methamphetamine abuse in Chinese males.		126450	10169	2	2002	No significant difference was demonstrated for genotype or allele frequency when comparing MAP-dependent and control cases for the DRD2 TaqI and the DRD4 gene exon III VNTR polymorphisms, suggesting that these two polymorphisms do not play major roles in MAP dependence for our sample of Chinese males.	Case methamphetamine-dependent cases;Control controls not otherwise specified in abstract										
121488	Y	schizophrenia	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Peng, D.  et al. 2005	15696493			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):94-5	[Association of schizophrenia with a promoter polymorphism in the dopamine D2 receptor gene]		126450	10136	2	2005	 The -141C del polymorphism is associated with schizophrenia.The polymorphism may modify the association with other factors. Possibly -141C del in the DRD(2) promoter region is a strong candidate for a protective factor for this trait.	Control:100 normal controls;Case:120 schizophrenic patients										
121489	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Wang, J.  et al. 2001	11425949				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Neurology. 2001 Jun;56(12):1757-9	Association study of dopamine D2, D3 receptor gene polymorphisms with motor fluctuations in PD		126450	10141	2	2001	These findings suggest that DRD2 TaqIA polymorphism may be associated with an increased risk for developing motor fluctuations in PD.	Cohort Parkinson's disease patients 										
121490	Y	bipolar affective disorder; unipolar affective disorder	PSYCH	PSY	Bipolar Disorder	11	11q23	DRD2	112785526	112851091		Massat, I.  et al. 2002	11857579				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			American journal of medical genetics. 2002 Mar;114(2):177-85	Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders.		126450	10146	2	2002	Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations	Case:133 unipolar affective disorder patients tested for:DRD2;Control:133 control subjects not otherwise specified tested for:DRD2;Case:136 unipolar affective disorder patients tested for:DRD3;Case:325 bipolar affective disorder tested for DRD3;Case:358 bipolar affective disorder patients tested for DRD2;Control:358 controls not otherwise specified in abstract tested for DRD2										
121485	N	schizophrenia	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Rohrmeier, T.  et al. 2003	14509080	(-141C Ins/Del)			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Psychiatrische Praxis. 2003 May;30 Suppl 2:S212-5	[No association of 141C-ins/del polymorphism in the D2 dopamine receptor gene in schizophrenia]		126450	10133	2	2003	Thus, our data do not support the hypothesis that the -141C Ins variant plays a major role in predisposition to schizophrenia. To confirm our conclusion further preferentially family based studies are needed.	Control:244:controls;Case:268 schizophrenic patients										
121486	N	opium abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	11	11q23	DRD2	112785526	112851091			15270299				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Russian		CDC GDPinfo	1813	Hs.73893			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2004 ;104(4):46-9	[Association study of NcoI and TaqI A dopamine receptor D2 gene polymorphism in opium addicts]		126450	10134	2	2004	No association was found between TaqI A DRD2 polymorphism and opium addiction in the Russians and the Tatars.	Cohort Russian and Tatar opium addicted patients 										
121487		psychoses; methamphetamine dependence	PSYCH	PSY	Psychoses, Substance-Induced|Atrophy	11	11q23	DRD2	112785526	112851091		Harano, M.  et al. 2004	15542731				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Annals of the New York Academy of Sciences. 2004 Oct;1025:307-15	A polymorphism of DRD2 gene and brain atrophy in methamphetamine psychosis.		126450	10135	2	2004	It is suggested that in methamphetamine psychosis the TaqI A polymorphism not only regulates prolongation of psychosis symptoms but also influences the form of the temporal lobe.	Cohort patients with methamphetamine psychosis 										
121482	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Kapelski, P.  et al. 2002	12149917	(-141C Ins/Del)		promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Poland	CDC GDPinfo	1813	Hs.73893			Psychiatria polska. 2002 May-Jun;36(3):413-9	[Lack of association between 141C Ins/Del promoter polymorphism of DRD2 gene and schizophrenia]		126450	10130	2	2002	No relationship between the polymorphism under study and schizophrenia has been found.	Case patients with schizophrenia;Control healthy controls										
121483	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Chen, T. J.  et al. 2002	12422061				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese		CDC GDPinfo	1813	Hs.73893			Neuropsychobiology. 2002 ;46(3):141-4	Association analysis of two dopamine D2 receptor gene polymorphisms and p300 event-related potential in depressive patients.		126450	10131	2	2002	The results demonstrate that neither polymorphism is associated with P300 amplitude or latency, even after gender analysis. We suggest that these two DRD2 polymorphisms have no major effects on P300 components for the Chinese population. The association between the DRD2 polymorphism and P300 components may depend on ethnicity, the psychiatric state of the subjects, or the investigative paradigms used.	Cohort 105 patients diagnosed with major depression 										
121484	N	schizophrenia	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Rohrmeier, T.  et al. 2003	13130378				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			VernacularTitle. 2003 May;30(Suppl 2):212-215	[No Association of the - 141C Ins/Del Polymorphism of the Dopamine D2 Receptor with Schizophrenia]		126450	10132	2	2003	Thus, our data do not support the hypothesis that the - 141C Ins variant plays a major role in predisposition to schizophrenia. To confirm our conclusion further preferentially family based studies are needed.	Control:244:controls;Case:268 schizophrenic patients										
121479	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Grevle, L.  et al. 2000	11104188				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Movement disorders. 2000 Nov;15(6):1070-4	Allelic association between the DRD2 TaqI A polymorphism and Parkinson's disease.		126450	10127	2	2000	The current study showed that there is a statistically significant association between the DRD2 variant allele A1 and PD. This association is most pronounced in patients with definite PD and becomes nonsignificant when the clinical picture is classified as atypical PD.	Case:72 patients with Parkinson's disease;Control:81:controls										
121480	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Hori, H.  et al. 2001	11304833				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			American journal of medical genetics. 2001 Mar;105(2):176-8	Association analysis between two functional dopamine D2 receptor gene polymorphisms and schizophrenia.		126450	10128	2	2001	Our findings indicate that an association between the two functional DRD2 gene polymorphisms, Ser311Cys and -141C Ins/Del, and schizophrenia is unlikely. Copyright 2001 Wiley-Liss, Inc.	Control:201:controls;Case:241 schizophrenic patients:Japan										
121481	Y	schizophrenia; schizoaffective disorder; affective disorder	PSYCH	PSY	Personality Disorders|Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Golimbet, V. E.  et al. 2001	11765615				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2001 ;101(11):50-3	[Dopamine receptor gene (DRD2) polymorphism in patients with endogenous psychoses with regard to their clinical heterogeneity]		126450	10129	2	2001	In the light of this finding, A2A2 DRD2 genotype appears to be related to chronicity of schizophrenia.	Control:117/111 healthy control subjects (n = 117) and first-degree relatives of the patients with psychoses who show no signs of mental diseases (n = 111);Case:184/63/121 patients with schizophrenia (n = 184), schizoaffective psychosis (n = 63), affective:disorders (n = 121)										
121476	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	11	11q23	DRD2	112785526	112851091	n	Wang J 2004	14732464	32806 C>T			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese		KGB	1813	Hs.73893	visual hallucinations		Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126450	2176	1	2004	Our data suggest that the loci investigated here are not associated with the visual hallucinogenesis in Parkinson's disease.	Case Parkinson's disease patients with hallucinations;Control Parkinson's disease patients without hallucinations										
121477	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Disease Susceptibility	11	11q23	DRD2	112785526	112851091		Hietala J et al. 1997	9264134				dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Finland	KGB	1813	Hs.73893			Psychiatric genetics. 1997 ;7(1):19-25	Allelic association between D2 but not D1 dopamine receptor gene and alcoholism in Finland.		126450	2177	1	1997												
121478		tardive dyskinesia	NEUROLOGICAL	NEUR		11	11q23	DRD2	112785526	112851091		Galeeva, A. R.  et al. 2000	11094753				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Genetika. 2000 Oct;36(10):1394-400	[Polymorphism of the dopamine D2 receptor gene in populations from the Volga-Ural region]		126450	10126	2	2000	Population-specific patterns of the main TaqIA- and NcoI-polymorphisms distribution were established. Specific trends in changes of genotype and allele frequency of the dopamine D2 receptor gene depending on the ethnicity of the population were revealed.	Cohort eight populations of the Volga-Ural region belonging to Turkic (Bashkirs, Tatars, and Chuvashes), Finno-Ugric (Maris, Komis, Mordovians, and Udmurts), and Eastern-Slavic (Russians) ethnic groups 										
121471	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091	n	Marino C 2003	14505070				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Italy	KGB	1813	Hs.73893			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126450	2171	1	2003												
121472	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091	n	Marino C 2003	14505070				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Italy	KGB	1813	Hs.73893			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126450	2172	1	2003												
121473		posttraumatic stress disorder.	OTHER	OTH	Epilepsy, Post-Traumatic	11	11q23	DRD2	112785526	112851091		Lawford BR 2003	12957328				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			European neuropsychopharmacology. 2003 Oct;13(5):313-20	D2 dopamine receptor gene polymorphism: paroxetine and social functioning in posttraumatic stress disorder.		126450	2173	1	2003												
121474	N	alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Recurrence	11	11q23	DRD2	112785526	112851091		Wiesbeck GA 2003	12811641				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			J Neural Transm. 2003 Jul;110(7):813-20	Dopamine D2 (DAD2) and dopamine D3 (DAD3) receptor gene polymorphisms and treatment outcome in alcohol dependence.		126450	2174	1	2003	In conclusion, we found no evidence that the DAD2 or DAD3 gene variants investigated have a major influence on treatment outcome in primary alcohol dependence.	Cohort individuals suffering from primary alcohol dependence										
121467	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091	0.012	Serretti A et al. 1998	9850987			other	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Italian (Caucasian)		SERRETTI	1813	Hs.73893	schizophrenia		Schizophrenia research. 1998 Nov;34(3):207-10	Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatology of schizophrenia		126450	2167	1	1998		Case:SKZ: 99; DELUSIONAL: 5										
121468	N	mood disorder	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder	11	11q23	DRD2	112785526	112851091	n	Seretti A 1999	10512150			other	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian		SERRETTI, 1999	1813	Hs.73893	BP and Major depressive		Psychiatry research. 1999 Jul;87(1):19-Jul	Dopamine receptor D2, D4, GABAA Alpha-1 subunit genes and response to lithium prophylaxis in mood disorders.		126450	2168	1	1999		Case:125										
121469	N	mood disorders	PSYCH	PSY	Mood Disorders|Bipolar Disorder	11	11q23	DRD2	112785526	112851091	n	Serretti A et al. 1999	10402492				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Italian (Caucasian)		Serretti et al. 1999	1813	Hs.73893	bipolar disorder		American journal of medical genetics. 1999 Aug;88(4):294-7	Dopamine D2 receptor gene not associated with symptomatology of mood disorders.		126450	2169	1	1999		Case:47										
121470		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Chromosome Deletion	11	11q23	DRD2	112785526	112851091		Ishiguro H et al. 1998	9660310	-141C Ins/Del			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Japan	KGB	1813	Hs.73893			Alcoholism, clinical and experimental research. 1998 Jun;22(4):845-8	Association study between the -141C Ins/Del and TaqI A polymorphisms of the dopamine D2 receptor gene and alcoholism.		126450	2170	1	1998												
121463	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Noble EP et al. 1991	2069496				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Archives of general psychiatry. 1991 Jul;48(7):648-54	Allelic association of the D2 dopamine receptor gene with receptor-binding characteristics in alcoholism.		126450	2163	1	1991												
121464	N	stress disorder	PSYCH	PSY	Stress Disorders, Post-Traumatic	11	11q23	DRD2	112785526	112851091	n	Gelernter J et al. 1999	10088049				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Biological psychiatry. 1999 Mar;45(5):620-5	No association between D2 dopamine receptor (DRD2) A system alleles or DRD2 haplotypes and posttraumatic stress disorder.		126450	2164	1	1999	 We conclude that DRD2 alleles are not associated with PTSD in this sample, and that genetic variation at the DRD2 locus is not likely to be an important contributor to risk for this disorder.											
121465		mood disorders	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Disorganized	11	11q23	DRD2	112785526	112851091		Serretti A et al. 2000	11001590				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			Serretti	1813	Hs.73893			Schizophrenia research. 2000 Jun;43(3-Feb):161-2	Further evidence supporting the association between the Dopamine receptor D2 Ser/Cys311 variant and disorganized symptomatology of schizophrenia		126450	2165	1	2000												
121459	N	personality traits	PSYCH	PSY		11	11q23	DRD2	112785526	112851091	n	Gebhardt C et al. 2000	11204349				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Psychiatric genetics. 2000 Sep;10(3):131-7	Non-association of dopamine D4 and D2 receptor genes with personality in healthy individuals.		126450	2159	1	2000												
121460	Y	aura anxiety and depression	PSYCH	PSY	Migraine Disorders|Anxiety Disorders|Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Peroutka SJ et al. 1998	9513185				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Molecular medicine (Cambridge, Mass). 1998 Jan;4(1):14-21	Comorbid migraine with aura anxiety and depression is associated with dopamine D2 receptor (DRD2) NcoI alleles.		126450	2160	1	1998	 These data indicate that MWA, anxiety disorders, and major depression can be components of a distinct clinical syndrome associated with allelic variations within the DRD2 gene. Clinical recognition of this genetically based syndrome has significant diagnostic and therapeutic implications.											
121461		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Bau CH et al. 2000	10898904	TaqI A1			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Brazil	KGB	1813	Hs.73893			American journal of medical genetics. 2000 Jun;96(3):302-6	The TaqI A1 allele of the dopamine D2 receptor gene and alcoholism in Brazil: association and interaction with stress and harm avoidance on severity prediction.		126450	2161	1	2000												
121455	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Gorwood P et al. 2000	10881204				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			European psychiatry. 2000 Mar;15(2):90-6	Reappraisal of the association between the DRD2 gene alcoholism and addiction.		126450	2155	1	2000												
121456	Y	neuroleptic malignant syndrome	OTHER	OTH	Neuroleptic Malignant Syndrome|Genetic Predisposition to Disease|Depressive Disorder|Schizophrenia	11	11q23	DRD2	112785526	112851091		Suzuki A et al. 2001	11579007				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			The American journal of psychiatry. 2001 Oct;158(10):1714-6	Association of the TaqI A polymorphism of the dopamine D(2) receptor gene with predisposition to neuroleptic malignant syndrome.		126450	2156	1	2001	 These findings suggest that the TaqI A DRD(2) polymorphism is associated with the predisposition to neuroleptic malignant syndrome.											
121457	Y	schizophrenia	PSYCH	PSY	Substance-Related Disorders|Alcoholism|Disease Susceptibility|Schizophrenia	11	11q23	DRD2	112785526	112851091		Goldman D et al. 1997	9259374				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Arizona	KGB	1813	Hs.73893			American journal of medical genetics. 1997 Jul;74(4):386-94	Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 markers to alcoholism substance abuse and schizophrenia in Southwestern American Indians.		126450	2157	1	1997												
121458	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Bolos AM et al. 1990	1979357				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			JAMA. 1990 Dec;264(24):3156-60	Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism.		126450	2158	1	1990												
121451	N	Cigarette Smoking	OTHER	OTH	Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091	n	Singleton AB 1998	10022750	DRD2*A1			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Great Britain	KGB	1813	Hs.73893			Pharmacogenetics. 1998 Apr;8(2):125-8			126450	2151	1	1998	We conclude that , in the individuals studied, the dopamine D2 receptor TaqI locus does not affect the drive to smoke. This may be caused by the locus being unrelated to impulsive/addictive/compulsive behaviour, the polymorphism being in linkage disequilibrium with another distinct locus or, alternatively, smoking may represent a behaviour that is not directly comparable to impulsive/addictive/compulsive behaviours previously associated with the DRD2*A1 allele.	Case:104; Control:117										
121452	Y	reduced energy expenditure	METABOLIC	MET		11	11q23	DRD2	112785526	112851091		Tataranni PA et al. 2001	11289060	Ser311Cys			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Diabetes. 2001 Apr;50(4):901-4	A Ser311Cys mutation in the human dopamine receptor D2 gene is associated with reduced energy expenditure.		126450	2152	1	2001												
121453		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Kaneshima M et al. 1997	9472122	Cys311			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Okinawan		KGB	1813	Hs.73893			Psychiatry and clinical neurosciences. 1997 Dec;51(6):379-81	An association study between the Cys311 variant of dopamine D2 receptor gene and schizophrenia in the Okinawan population.		126450	2153	1	1997												
121447	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Gelernter J et al. 1991	1832467				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			JAMA. 1991 Oct;266(13):1801-7	No association between an allele at the D2 dopamine receptor gene (DRD2) and alcoholism.		126450	2147	1	1991	We conclude that  our data do not support an allelic association between the A1 allele at DRD2 and alcoholism.											
121448		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Neiswanger K et al. 1995	7485259				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1995 Aug;60(4):267-71	Association and linkage studies of the TAQI A1 allele at the dopamine D2 receptor gene in samples of female and male alcoholics.		126450	2148	1	1995												
121450	N	methamphetamine abuse	PSYCH	PSY	Amphetamine-Related Disorders	11	11q23	DRD2	112785526	112851091	n	Tsai SJ et al. 2002	11901357				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	KGB	1813	Hs.73893			Psychiatric genetics. 2002 Mar;12(1):29-33	No association for D2 and D4 dopamine receptor polymorphisms and methamphetamine abuse in Chinese males.		126450	2150	1	2002	No significant difference was demonstrated for genotype or allele frequency when comparing MAP-dependent and control cases for the DRD2 TaqI and the DRD4 gene exon III VNTR polymorphisms, suggesting that these two polymorphisms do not play major roles in MAP dependence for our sample of Chinese males.	Case methamphetamine-dependent cases;Control controls not otherwise specified in abstract										
121443	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	11	11q23	DRD2	112785526	112851091		Hori H et al. 2001	11803529				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	tardive dyskinesia		American journal of medical genetics. 2001 Dec;105(8):774-8	Association between three functional polymorphisms of dopamine D2 receptor gene and tardive dyskinesia in schizophrenia.		126450	2143	1	2001												
121444	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Blum K et al. 1991	1839129				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Alcohol (Fayetteville, NY). 1991 Sep-Oct;8(5):409-16	Association of the A1 allele of the D2 dopamine receptor gene with severe alcoholism.		126450	2144	1	1991												
121445	Y	anovulation and fecundity	REPRODUCTION	REP	Polycystic Ovary Syndrome|Anovulation	11	11q23	DRD2	112785526	112851091		Legro RS et al. 1994	7962432				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Human reproduction (Oxford, England). 1994 Jul;9(7):1271-5	Association of dopamine D2 receptor gene haplotypes with anovulation and fecundity in female Hispanics.		126450	2145	1	1994	We conclude that  D2 receptor alleles may be associated with reproductive success through altered gonadotrophin secretion and that this effect may be independent of ovulatory function.											
121439	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11q23	DRD2	112785526	112851091	n	Souery D et al. 1996	8950413				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	catecholamine neurotransmission		American journal of medical genetics. 1996 Nov;67(6):551-5	Association study of bipolar disorder with candidate genes involved in catecholamine neurotransmission: DRD2 DRD3 DAT1 and TH genes.		126450	2139	1	1996												
121440	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Arinami T et al. 1993	8094979	A1 allele of DRD2			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Japanese	Japan	KGB	1813	Hs.73893			Biological psychiatry. 1993 Jan;33(2):108-14	Association between severity of alcoholism and the A1 allele of the dopamine D2 receptor gene TaqI A RFLP in Japanese.		126450	2140	1	1993												
121441	N	reduced dopamine D2 receptor density	OTHER	OTH	Substance-Related Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Pohjalainen T et al. 1999	10780270	-141C Ins/Del		promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Pharmacogenetics. 1999 Aug;9(4):505-9	The dopamine D2 receptor 5'-flanking variant -141C Ins/Del is not associated with reduced dopamine D2 receptor density in vivo.		126450	2141	1	1999												
121442	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Blum K et al. 1990	1969501				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			JAMA. 1990 Apr;263(15):2055-60	Allelic association of human dopamine D2 receptor gene in alcoholism.		126450	2142	1	1990												
121435	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Conduct Disorder	11	11q23	DRD2	112785526	112851091		Lu RB et al. 2001	11236830				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Alcoholism, clinical and experimental research. 2001 Feb;25(2):177-84	Dopamine D2 receptor gene (DRD2) is associated with alcoholism with conduct disorder.		126450	2135	1	2001												
121436	N	major psychosis	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Sasaki T et al. 1996	8837713				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1996 Jul;67(4):415-7	No evidence for association of dopamine D2 receptor variant (Ser311/Cys311) with major psychosis.		126450	2136	1	1996												
121437		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Parsian A et al. 1991	2069497				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Archives of general psychiatry. 1991 Jul;48(7):655-63	Alcoholism and alleles of the human D2 dopamine receptor locus. Studies of association and linkage.		126450	2137	1	1991												
121438	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Laine TP et al. 2001	11373265	A1 allele			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	high dopamine transporter density		Alcohol and alcoholism (Oxford, Oxfordshire). 2001 May-Jun;36(3):262-5	The A1 allele of the D2 dopamine receptor gene is associated with high dopamine transporter density in detoxified alcoholics.		126450	2138	1	2001												
121431		metamphetamine dependence	OTHER	OTH	Substance-Related Disorders	11	11q23	DRD2	112785526	112851091		Sery O et al. 2001	11300226				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Physiological research. 2001 ;50(1):43-50	The association study of DRD2 ACE and AGT gene polymorphisms and metamphetamine dependence.		126450	2131	1	2001												
121432	Y	short-term response to haloperidol treatment	OTHER	OTH	Psychoses, Substance-Induced|Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Schafer M et al. 2001	11329406				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			The American journal of psychiatry. 2001 May;158(5):802-4	Association of short-term response to haloperidol treatment with a polymorphism in the dopamine D(2) receptor gene.		126450	2132	1	2001	 These results support the hypothesis that genetic variations in the DRD2 gene may influence the individual response to antipsychotics.											
121433	N	alcohol-use disorders	CHEMDEPENDENCY	CHEM	Alcoholism|Disease Susceptibility	11	11q23	DRD2	112785526	112851091	n	Chen CH et al. 1996	8886168				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	atayal natives of Taiwan	Taiwan	KGB	1813	Hs.73893			American journal of medical genetics. 1996 Sep;67(5):488-90	Lack of association between TaqI A1 allele of dopamine D2 receptor gene and alcohol-use disorders in atayal natives of Taiwan.		126450	2133	1	1996												
121434	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Tanaka T et al. 1996	8723049	Cys311			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1996 Apr;67(2):208-11	Lack of association between dopamine D2 receptor gene Cys311 variant and schizophrenia.		126450	2134	1	1996												
121427	Y	early-onset alcoholism	OTHER	OTH	Alcoholism	11	11q23	DRD2	112785526	112851091		Kono Y et al. 1997	9129720				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Japan	KGB	1813	Hs.73893			American journal of medical genetics. 1997 Apr;74(2):179-82	Association between early-onset alcoholism and the dopamine D2 receptor gene.		126450	2127	1	1997												
121429	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Hori H et al. 2001	11304833				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 2001 Mar;105(2):176-8	Association analysis between two functional dopamine D2 receptor gene polymorphisms and schizophrenia.		126450	2129	1	2001	Our findings indicate that an association between the two functional DRD2 gene polymorphisms, Ser311Cys and -141C Ins/Del, and schizophrenia is unlikely. Copyright 2001 Wiley-Liss, Inc.	Control:201:controls;Case:241 schizophrenic patients:Japan										
121430	N	mood disorder	PSYCH	PSY	Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091	n	Serretti A et al. 2001	11728608			coding sequence	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	affect		Serretti	1813	Hs.73893	depressive symptomatology		Psychiatry research. 2001 Nov;104(3):195-203	No association between dopamine D(2) and D(4) receptor gene variants and antidepressant activity of two selective serotonin reuptake inhibitors.		126450	2130	1	2001	The investigated DRD2 and DRD4 gene variants therefore do not seem to play a major role in the antidepressant activity of SSRIs, at least in the present sample.	Cohort 364 inpatients affected by a major depressive episode treated with fluvoxamine, 300 mg/day (n=266), or paroxetine, 20-40 mg/day (n=98).	fluvoxamine paroxetine									
121423		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11q23	DRD2	112785526	112851091		Li T et al. 2002	11920858				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	KGB	1813	Hs.73893			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		126450	2123	1	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
121424	N	human intelligence	PSYCH	PSY	Mental Retardation	11	11q23	DRD2	112785526	112851091	n	Moises HW et al. 2001	11261743				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			J Neural Transm. 2001 ;108(1):115-21	No association between dopamine D2 receptor gene (DRD2) and human intelligence.		126450	2124	1	2001												
121425		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Zappia M et al. 2002	11889264				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	motor fluctuations		Neurology. 2002 Mar;58(5):837; author reply 837-8	Association study of dopamine D2 D3 receptor gene polymorphisms with motor fluctuations in PD.		126450	2125	1	2002												
121426	N	general cognitive ability	PSYCH	PSY		11	11q23	DRD2	112785526	112851091	n	Petrill SA et al. 1997	9145541				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	general cognitive ability		Behavior genetics. 1997 Jan;27(1):29-31	No association between general cognitive ability and the A1 allele of the D2 dopamine receptor gene.		126450	2126	1	1997												
121419		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Craddock N et al. 1995	7551964	(Ser311-->Cys)			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Great Britain	KGB	1813	Hs.73893			Psychiatric genetics. 1995 ;5(2):63-5	Association study of bipolar disorder using a functional polymorphism (Ser311-->Cys) in the dopamine D2 receptor gene.		126450	2119	1	1995												
121420	N	alcohol	OTHER	OTH	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Gelernter J et al. 1999	10327432				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Neuropsychopharmacology. 1999 Jun;20(6):640-9	D2 dopamine receptor gene (DRD2) allele and haplotype frequencies in alcohol dependent and control subjects: no association with phenotype or severity of phenotype.		126450	2120	1	1999												
121422	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Verga M et al. 1997	9187010				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Schizophrenia research. 1997 May;25(2):117-21	No association of the Ser/Cys311 DRD2 molecular variant with schizophrenia using a classical case control study and the haplotype relative risk.		126450	2122	1	1997												
121415	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Blum K et al. 1993	8095394				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Alcohol (Fayetteville, NY). 1993 Jan-Feb;10(1):59-67	Genetic predisposition in alcoholism: association of the D2 dopamine receptor TaqI B1 RFLP with severe alcoholics.		126450	2115	1	1993												
121416	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Higuchi S et al. 1994	7980596				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Biochemical and biophysical research communications. 1994 Nov;204(3):1199-205	Association of structural polymorphism of the dopamine D2 receptor gene and alcoholism.		126450	2116	1	1994												
121417	Y	myoclonus dystonia	OTHER	OTH	Dystonia|Myoclonus	11	11q23	DRD2	112785526	112851091		Klein C et al. 1999	10220438				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Proceedings of the National Academy of Sciences of the United States of America. 1999 Apr;96(9):5173-6	Association of a missense change in th D2 dopamine receptor with myoclonus dystonia.		126450	2117	1	1999												
121411		schizophrenia	PSYCH	PSY	Mood Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Arinami T et al. 1996	8723039	S311C			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1996 Apr;67(2):133-8	Further association study on dopamine D2 receptor variant S311C in schizophrenia and affective disorders.		126450	2111	1	1996												
121412	N	mood disorders	PSYCH	PSY	Mood Disorders	11	11q23	DRD2	112785526	112851091		Cusin C et al. 2002	11992560				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A COMT 5-HT2A DRD2 and DRD4 polymorphisms with illness time course in mood disorders.		126450	2112	1	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
121413	Y	heritability of stature	OTHER	OTH		11	11q23	DRD2	112785526	112851091		Arinami T et al. 1999	10738526				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Annals of human genetics. 1999 Mar;63(Pt 2):147-51	Supportive evidence for contribution of the dopamine D2 receptor gene to heritability of stature: linkage and association studies.		126450	2113	1	1999												
121414	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Lee MS et al. 1997	9285968				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Korean	Korea	KGB	1813	Hs.73893			Psychiatric genetics. 1997 ;7(2):93-5	No association between the dopamine D2 receptor gene and Korean alcoholism.		126450	2114	1	1997												
121407	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Turner E et al. 1992	1347705				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Biological psychiatry. 1992 Feb;31(3):285-90	Lack of association between an RFLP near the D2 dopamine receptor gene and severe alcoholism.		126450	2107	1	1992												
121408	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091	n	Sander T et al. 1999	10235291				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	German	Germany	KGB	1813	Hs.73893			Alcoholism, clinical and experimental research. 1999 Apr;23(4):578-81	Lack of an allelic association between polymorphisms of the dopamine D2 receptor gene and alcohol dependence in the German population.		126450	2108	1	1999												
121409		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Lobos EA et al. 1998	9754627				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1998 Sep;81(5):411-9	Association analysis in an evolutionary context: cladistic analysis of the DRD2 locus to test for association with alcoholism.		126450	2109	1	1998												
121410	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Limosin F et al. 2002	12376935	TaqI a polymorphism			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 2002 Nov;112(4):343-6	Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence.		126450	2110	1	2002												
121403	Y	elevated blood pressure and personality disorders	OTHER	OTH	Hypertension|Personality Disorders	11	11q23	DRD2	112785526	112851091		Rosmond R et al. 2001	11494094	Polymorphism in exon 6			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Sweden	KGB	1813	Hs.73893			Journal of human hypertension. 2001 Aug;15(8):553-8	Polymorphism in exon 6 of the dopamine D(2) receptor gene (DRD2) is associated with elevated blood pressure and personality disorders in men.		126450	2103	1	2001												
121404	Y	brain receptor-binding characteristics	NEUROLOGICAL	NEUR		11	11q23	DRD2	112785526	112851091		Ritchie T et al. 2003	12587665				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Neurochemical research. 2003 Jan;28(1):73-82	Association of seven polymorphisms of the D2 dopamine receptor gene with brain receptor-binding characteristics.		126450	2104	1	2003												
121405	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11q23	DRD2	112785526	112851091		Perez de Castro I et al. 1995	7760324				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Spanish		KGB	1813	Hs.73893			Journal of medical genetics. 1995 Feb;32(2):131-4	A weak association between TH and DRD2 genes and bipolar affective disorder in a Spanish sample.		126450	2105	1	1995												
121399	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Wang J et al. 2001	11425949				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese		KGB	1813	Hs.73893	motor fluctuations		Neurology. 2001 Jun;56(12):1757-9	Association study of dopamine D2 D3 receptor gene polymorphisms with motor fluctuations in PD.		126450	2099	1	2001	These findings suggest that DRD2 TaqIA polymorphism may be associated with an increased risk for developing motor fluctuations in PD.	Cohort Parkinson's disease patients										
121400		heroin use and response to methadone treatment	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	11	11q23	DRD2	112785526	112851091		Lawford BR et al. 2000	11054765				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 2000 Oct;96(5):592-8	The D(2) dopamine receptor A(1) allele and opioid dependence: association with heroin use and response to methadone treatment.		126450	2100	1	2000												
121401	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11q23	DRD2	112785526	112851091	n	Nothen MM et al. 1992	1346486				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			The American journal of psychiatry. 1992 Feb;149(2):199-201	Lack of association between dopamine D1 and D2 receptor genes and bipolar affective disorder.		126450	2101	1	1992												
121402	Y	cocaine dependence.	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	11	11q23	DRD2	112785526	112851091		Noble EP et al. 1993	8261891				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Drug and alcohol dependence. 1993 Oct;33(3):271-85	Allelic association of the D2 dopamine receptor gene with cocaine dependence.		126450	2102	1	1993												
121395	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Kapelski P et al. 2002	12149917			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Poland	KGB	1813	Hs.73893			Psychiatria polska. 2002 May-Jun;36(3):413-9	Lack of association between 141C Ins/Del promoter polymorphism of DRD2 gene and schizophrenia trans Brak asocjacji pomiedzy polimorfizmem -141C Ins/Del w odcinku promotorowym genu DRD2 a schizofrenia.		126450	2095	1	2002	No relationship between the polymorphism under study and schizophrenia has been found.	Case patients with schizophrenia;Control healthy controls										
121396		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Spurlock G et al. 1998	9514583				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1998 Feb;81(1):24-8	European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms.		126450	2096	1	1998												
121397	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091	n	Nanko S et al. 1994	7726209				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1994 Dec;54(4):361-4	No allelic association between Parkinson's disease and dopamine D2 D3 and D4 receptor gene polymorphisms.		126450	2097	1	1994												
121398	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Migraine Disorders|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091	n	Maude S et al. 2001	11409701	-141C Ins/Del			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Great Britain	KGB	1813	Hs.73893			Psychiatric genetics. 2001 Mar;11(1):49-52	The -141C Ins/Del polymorphism of the dopamine D2 receptor gene is not associated with either migraine or Parkinson's disease.		126450	2098	1	2001												
121391	N	substance abusers	OTHER	OTH	Substance-Related Disorders|Personality Disorders	11	11q23	DRD2	112785526	112851091	n	Smith SS et al. 1993	8104042				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Biological psychiatry. 1993 Jun;33(12-Nov):845-8	Comorbid psychopathy is not associated with increased D2 dopamine receptor TaqI A or B gene marker frequencies in incarcerated substance abusers.		126450	2091	1	1993												
121392		substance use	OTHER	OTH	Substance-Related Disorders	11	11q23	DRD2	112785526	112851091		O'Hara BF et al. 1993	8102114				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	caucasian		KGB	1813	Hs.73893			Human heredity. 1993 Jul-Aug;43(4):209-18	Dopamine D2 receptor RFLPs haplotypes and their association with substance use in black and Caucasian research volunteers.		126450	2092	1	1993												
121393	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	11	11q23	DRD2	112785526	112851091		Jenkinson CP et al. 2000	11093282				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Arizona	KGB	1813	Hs.73893			International journal of obesity and related metabolic disorders. 2000 Oct;24(10):1233-8	Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesity or type 2 diabetes mellitus in Pima Indians.		126450	2093	1	2000	 Heterozygotes at the Ser311Cys DRD2 polymorphism had a slightly higher BMI than homozygotes, however neither the Ser311Cys nor the TaqIA polymorphism accounted for the linkage with BMI on chromosome 11 in Pima Indians.											
121394	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Arinami T et al. 1997	9097961			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Human molecular genetics. 1997 Apr;6(4):577-82	A functional polymorphism in the promoter region of the dopamine D2 receptor gene is associated with schizophrenia.		126450	2094	1	1997												
121387	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Jonsson EG et al. 1999	10541004			promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Schizophrenia research. 1999 Nov;40(1):31-6	Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia.		126450	2087	1	1999												
121388		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Schindler KM et al. 2002	12399954				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Portuguese	Portugal	KGB	1813	Hs.73893			Molecular psychiatry. 2002 ;7(9):1002-5	Association and linkage disequilibrium between a functional polymorphism of the dopamine-2 receptor gene and schizophrenia in a genetically homogeneous Portuguese population.		126450	2088	1	2002												
121390	Y	severity of alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Connor JP et al. 2002	11918988				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Australia	KGB	1813	Hs.73893			European psychiatry. 2002 Mar;17(1):17-23	D(2) dopamine receptor (DRD2) polymorphism is associated with severity of alcohol dependence.		126450	2090	1	2002	In sum, alcohol-dependent patients with the DRD2 A(1) allele compared to patients without this allele are characterized by greater severity of their disorder across a range of problem drinking indices. The implications of these findings are discussed.	Cohort sample of Caucasian adults recruited from an alcohol detoxification unit ;Control:260 control subjects not otherwise specified in:abstract;Case:260 end stage renal disease patients										
121383	N	personality traits	PSYCH	PSY		11	11q23	DRD2	112785526	112851091	n	Katsuragi S 2001	11740982	DRD2 promoter region		5`promoter	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Psychiatry research. 2001 Dec;105(2-Jan):123-7			126450	2083	1	2001												
121384	N	antipsychotic agent-induced weight gain	METABOLIC	MET	Weight Gain|Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Zhang ZJ 2003	12617772				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese Han		KEW	1813	Hs.73893			Acta pharmacologica Sinica. 2003 Mar;24(3):235-40			126450	2084	1	2003	 The TaqI A polymorphism of DRD2 gene is therefore unlikely to play an important role in antipsychotic agent-induced weight gain, a side effect of antipsychotic treatment. Furthermore, increase in body weight is unlikely to be prediction of therapeutic response to antipsychotic treatment in schizophrenia.											
121385	N	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091	n	Gelernter J et al. 1999	10023512				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Biological psychiatry. 1999 Feb;45(3):340-5	No association between D2 dopamine receptor (DRD2) alleles or haplotypes and cocaine dependence or severity of cocaine dependence in European- and African-Americans.		126450	2085	1	1999	 Our data do not support an association between DRD2 alleles or haplotypes and cocaine dependence, in EA or AA subjects. Moreover, DRD2 alleles are not associated with severity of cocaine dependence in this sample.											
121379	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5q35.1	DRD1	174800280	174803769		Bobb, A. J.  et al. 2005	15717291				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		126449	25956	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
121380	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	10	10q26.3	DRD1IP	134988922	135000401		Laurin, N.  et al. 2005	16172615				Dopamine receptor D1 interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015722.2			CDC GDPinfo	50632	Hs.148680			Molecular psychiatry. 2005 Dec;10(12):1117-25	Association of the calcyon gene (DRD1IP) with attention deficit/hyperactivity disorder.		604647	16362	2	2005												
121381	N	Schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091	n	Arranz MJ 1998	9918131	???-141C Ins/Del ???			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese		KGB	1813	Hs.73893			Pharmacogenetics. 1998 Dec;8(6):481-4			126450	2081	1	1998												
121382	N	Alcohol Dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Gorwood P1995	8825889	DRD2 TaqI A1			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1995 Dec;60(6):529-31			126450	2082	1	1995												
121376		panic disorder; migraine	PSYCH	PSY	Migraine without Aura|Panic Disorder	5	5q35.1	DRD1	174800280	174803769		Stochino, M. E.  et al. 2003	12967601				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3		Italy	CDC GDPinfo	1812	Hs.2624			Pharmacological research. 2003 Nov;48(5):531-4	Association study between the phenotype migraine without aura-panic disorder and dopaminergic receptor genes.		126449	16436	2	2003	This result does not seem to support, in our limited sample, a common pathological basis, with regard to the dopaminergic system, between migraine and panic. Should migraine and panic disorder share some common mechanisms, these could be sought in neuro-chemical systems other than the dopaminergic one.	Cohort 100 probands suffereing from migraine without aura 										
121377		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	5	5q35.1	DRD1	174800280	174803769		Koks, S.  et al. 2005	15927089				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			The international journal of neuropsychopharmacology. 2005	Analysis of SNP profiles in patients with major depressive disorder.		126449	21149	2	2005	Altogether we were able to find some nominal associations, but due to small sample size these results should be taken as exploratory. However, the effect of GAGT haplotype on the CCKAR gene may be considered as increasing the risk for MDD.	Control:160 healthy controls;Case:177 patients with major depressive disorder										
121378		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q35.1	DRD1	174800280	174803769		Iwata, Y.  et al. 2003	12497608				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Japanese		CDC GDPinfo	1812	Hs.2624			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		126449	21150	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
121373		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q35.1	DRD1	174800280	174803769		Beige, J.  et al. 2004	15607627				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Japanese		CDC GDPinfo	1812	Hs.2624			American journal of hypertension. 2004 Dec;17(12 Pt 1):1184-7	Ethnic origin determines the impact of genetic variants in dopamine receptor gene (DRD1) concerning essential hypertension		126449	16361	2	2004	Our findings in these Caucasian patients are in contrast to a recent Japanese study that revealed a significant association of the -48 G-allele with hypertension. Thus, racial differences may play an important role concerning the association of variants in the dopamine receptor type 1 gene with essential hypertension.	Control:209 normotensive controls;Case:493 Caucasian hypertensive patients										
121374	Y	psychosis	PSYCH	PSY	Alzheimer Disease|Hallucinations|Genetic Predisposition to Disease|Psychotic Disorders	5	5q35.1	DRD1	174800280	174803769		Holmes, C.  et al. 2001	11723200				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3		Great Britain	CDC GDPinfo	1812	Hs.2624			Journal of neurology, neurosurgery, and psychiatry. 2001 Dec;71(6):777-9	Psychosis and aggression in Alzheimer's disease:the effect of dopamine receptor gene variation.		126449	16368	2	2001	An association was found between the presence of psychotic symptoms and aggressive behaviour and the DRD1 polymorphism and between the presence of psychosis, but not aggression, and the DRD3 polymorphism. Specifically, carriers of the DRD1 B2 allele were more likely to be aggressive or experience hallucinations whereas homozygous carriers of the DRD3 1 allele were more likely to experience delusions.	Cohort 134 patients with late onset Alzheimer's disease 										
121375	N	migraine	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	5	5q35.1	DRD1	174800280	174803769		Shepherd, A. G.  et al. 2002	12047334				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			Headache. 2002 May;42(5):346-51	Dopamine receptor genes and migraine with and without aura: an association study.		126449	16434	2	2002	 These findings offer no evidence for allelic association between the tested dopamine receptor gene polymorphisms and the more prevalent forms of migraine and, therefore, do not support a role for these genes in the pathogenesis of the disorder.	Case:275:migraineurs;Control:275 age- and sex-matched individuals free of migraine										
121369	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	5	5q35.1	DRD1	174800280	174803769		Severino, G.  et al. 2005	15704231	A48G			Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):37-8	A48G polymorphism in the D1 receptor genes associated with bipolar I disorder.		126449	10125	2	2005	An association between the DRD1 gene and bipolar I disorder (BP I) in the Sardinian population is suggested.	Case:107 Sardinian bipolar 1 patients;Control:129 healthy control subjects										
121371		panic disorder	PSYCH	PSY	Panic Disorder|Depressive Disorder	5	5q35.1	DRD1	174800280	174803769		Maron, E.  et al. 2005	15722953				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			Psychiatric genetics. 2005 Mar;15(1):17-24	Association study of 90 candidate gene polymorphisms in panic disorder.		126449	11475	2	2005	 The study results suggest that genetic variants of several candidate genes of neurotransmitter systems, each of a minor individual effect, may contribute to the susceptibility to PD. Our data also indicate that genetic variability may have a distinctive influence on pure and comorbid phenotypes of PD.	Case:127 patients with panic disorder;Control:146 healthy controls										
121372	N	Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease	5	5q35.1	DRD1	174800280	174803769		Chou, I. C.  et al. 2004	15564897				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Taiwanese	Taiwan	CDC GDPinfo	1812	Hs.2624			Psychiatric genetics. 2004 Dec;14(4):219-21	Association analysis between Tourette's syndrome and dopamine D1 receptor gene in Taiwanese children.		126449	16360	2	2004	 These data suggest that DRD1 gene may not be a useful marker for prediction of the susceptibility of TS.	Case:148 children with Tourette syndrome;Control:83 normal control subjects										
121365	Y	Narcolepsy-cataplexy syndrome	OTHER	OTH	Narcolepsy	2	2q31.2	DRB1	178685427	178702628		Peraita-Adrados R et al. 1999	11382879	DRB1*0806DQB*0602			Developmentally regulated RNA-binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152945.2	caucasian	Spain	KGB	129831	Hs.377257			Sleep research online [electronic resource] :  SRO. 1999 ;2(2):29-31	Narcolepsy-cataplexy syndrome associated with DRB1*0806-DQB*0602 haplotype in a Caucasian patient.			6862	1	1999												
121366	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	5	5q35.1	DRD1	174800280	174803769	n	Nothen MM et al. 1992	1346486				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			KGB	1812	Hs.2624			The American journal of psychiatry. 1992 Feb;149(2):199-201	Lack of association between dopamine D1 and D2 receptor genes and bipolar affective disorder.		126449	2079	1	1992												
121367	Y	essential hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q35.1	DRD1	174800280	174803769		Sato M et al. 2000	10948075				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			KGB	1812	Hs.2624			Hypertension. 2000 Aug;36(2):183-6	Dopamine D1 receptor gene polymorphism is associated with essential hypertension.		126449	2080	1	2000												
121368	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q35.1	DRD1	174800280	174803769		Limosin, F.  et al. 2003	12966314				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			Alcoholism, clinical and experimental research. 2003 Aug;27(8):1226-8	Association between dopamine receptor D1 gene DdeI polymorphism and sensation seeking in alcohol-dependent men.		126449	10124	2	2003	 That is the first report of a male limited association between the DRD1 gene polymorphism and sensation-seeking score in alcohol-dependent subjects.	Cohort 72 alcohol-dependent male and female patients 										
121361	Y	periodontitis	IMMUNE	IMM	Periodontitis	2	2q24.3	DPP4	162557000	162639298		Suzuki, A.  et al. 2004	15490304				Dipeptidylpeptidase 4 (CD26, adenosine deaminase complexing protein 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001935.3		Japan	CDC GDPinfo	1803	Hs.368912			Odontology. 2004 Sep;92(1):43-7	Large-scale investigation of genomic markers for severe periodontitis.		102720	21148	2	2004	These results suggest that SNPs in the GNRH1, PIK3R1, DPP4, FGL2, and CALCR genes are genomic markers for severe periodontitis. Our findings indicate the necessity of analyzing SNPs in genes on a large scale (i.e., genome-wide approach), to identify genomic markers for periodontitis.	Control:19 healthy volunteers;Case:22 Japanese patients with severe periodontitis										
121363		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	8	8p22-p21	DPYSL2	26427904	26571610			16380905				Dihydropyrimidinase-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001386.4			CDC GDPinfo	1808	Hs.173381			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		602463	24303	2	2005												
121364	Y	schizophrenia	PSYCH	PSY		2	2q31.2	DRB1	178685427	178702628		Arinami T et al. 1998	9713902				Developmentally regulated RNA-binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152945.2	Japanese		KGB	129831	Hs.377257			Schizophrenia research. 1998 Jul;32(2):81-6	Evidence supporting an association between the DRB1 gene and schizophrenia in Japanese.			6861	1	1998												
121357	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823		Aung, P. P.  et al. 2005	16211278			promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3	Japanese	Japan	CDC GDPinfo	1789	Hs.251673			Oncology reports. 2005 Nov;14(5):1151-4	No evidence of correlation between the single nucleotide polymorphism of DNMT3B promoter and gastric cancer risk in a Japanese population.		602900	10122	2	2005												
121358	Y	attention deficit hyperactivity disorder-like phenotype	PSYCH	PSY	Inversion, Chromosome|Genetic Predisposition to Disease	3	3p21.31	DOCK3	50687675	51396669		de Silva MG 2003	14569117				Dedicator of cytokinesis 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004947.3			KGB	1795	Hs.476284			Journal of medical genetics. 2003 Oct;40(10):733-40	Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.		603123	2078	1	2003	 These two disrupted genes are candidates for involvement in the pathway leading to the neuropsychological condition in this family.											
121359	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Genetic Predisposition to Disease	2	2p13	DOK1	74629660	74638186		Sellick, G. S.  et al. 2005	15541476				Docking protein 1, 62kDa (downstream of tyrosine kinase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001381.2			CDC GDPinfo	1796	Hs.103854			Leukemia research. 2005 Jan;29(1):59-61	Germline mutations in Dok1 do not predispose to chronic lymphocytic leukemia.		602919	16348	2	2005	This result indicates that germline mutations in Dok1 are unlikely to cause an inherited predisposition to CLL.	Cohort 140 familial chronic lymphocytic leukemia cases 										
121354		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Heart Neoplasms	20	20q11.2	DNMT3B	30813851	30860823		Wang, Y. M.  et al. 2005	15962389			promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3	Chinese	China	CDC GDPinfo	1789	Hs.251673			World journal of gastroenterology. 2005 Jun;11(23):3623-7	Single nucleotide polymorphism in DNA methyltransferase 3B promoter and its association with gastric cardiac adenocarcinoma in North China.		602900	10119	2	2005	 The distribution of DNMT3B SNP in North China is distinct from that in Caucasians. Although this SNP has been associated with susceptibility to lung, head, neck and breast cancer, it may not be used as a stratification marker to predict susceptibility and lymphatic metastasis of GCA, at least in the population of North China.		family history smoking (tobacco)									
121355		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	20	20q11.2	DNMT3B	30813851	30860823		Singal, R.  et al. 2005	16012746				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDPinfo	1789	Hs.251673			Oncology reports. 2005 Aug;14(2):569-73	Polymorphisms in the DNA methyltransferase 3b gene and prostate cancer risk.		602900	10120	2	2005												
121356		leukemia, adult acute	CANCER	CAN	Leukemia|Acute Disease	20	20q11.2	DNMT3B	30813851	30860823		Li, Y.  et al. 2005	16194411	C46359T		promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDPinfo	1789	Hs.251673			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2005 Aug;44(8):588-91	[The C46359T polymorphism of DNMT3B promoter gene and pathogenesis of acute leukemia]		602900	10121	2	2005	 Different distribution of genotypes in different races, the CT heterozygote was relative to the pathogenesis of AL.											
121351	Y	lung cancer	CANCER	CAN	Lung Neoplasms	20	20q11.2	DNMT3B	30813851	30860823		Shen, H.  et al. 2002	12208751			promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDPinfo	1789	Hs.251673			Cancer research. 2002 Sep;62(17):4992-5	A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer.		602900	10116	2	2002	These results suggest that this novel variant of DNMT3B is associated with increased risk of lung cancer and may contribute to identifying individuals genetically susceptible to tobacco-induced cancers. Additional studies on the underlying molecular mechanism of this polymorphism are warranted.	Case:319 lung cancer cases;Control:340 healthy controls frequency matched on age (+/-5 years), sex, ethnicity, and smoking status										
121352		breast cancer	CANCER	CAN	Breast Neoplasms	20	20q11.2	DNMT3B	30813851	30860823		Montgomery, K. G.  et al. 2004	15217506	DNMT3B C-->T		promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3		Great Britain	CDC GDPinfo	1789	Hs.251673			Breast cancer research. 2004 ;6(4):R390-4	The DNMT3B C-->T promoter polymorphism and risk of breast cancer in a British population: acase-control study.		602900	10117	2	2004	 Our findings contrast with those of a previous study, which showed that individuals carrying at least one T allele have a significantly increased risk of developing lung cancer. This discrepancy might be an artefact resulting from a chance variation, or it might point to differing influences of promoter hypermethylation in these cancer types.	Control:258:controls;Case:352 breast cancer cases:UK										
121353	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823		Lee, S. J.  et al. 2004	15528220				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3		Korea	CDC GDPinfo	1789	Hs.251673			Carcinogenesis. 2005 Feb;26(2):403-9	DNMT3B polymorphisms and risk of primary lung cancer.		602900	10118	2	2004	These results suggest that the DNMT3B -283T>C polymorphism influence DNMT3B expression, thus contributing to the genetic susceptibility to lung cancer.	Control:432 healthy controls frequency-matched for age and sex;Case:432 Korean lung cancer patients										
121348	Y	lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic	19	19p13.2	DNASE2	12847024	12853335		Shin, H. D.  et al. 2005	15723160				Deoxyribonuclease II, lysosomal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001375.2		Korea	CDC GDPinfo	1777	Hs.118243			Journal of human genetics. 2005 ;50(3):107-11	DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.		126350	10114	2	2005	No significant associations with the risk of SLE were detected. However, further analyses of association with the risk of renal disorder among SLE patients revealed several positive associations. One promoter SNP (-1066G>C), +2630T>C (Ser145Ser), +6235G>C and one haplotype showed weak associations with the risk of nephritis among SLE patients.	Control:330 healthy subjects;Case:350 Korean systemic lupus erythematosus patients										
121349		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	19	19p13.2	DNMT1	10105021	10166811		Park, B. L.  et al. 2004	15375672				DNA (cytosine-5-)-methyltransferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001379.1		Korea	CDC GDPinfo	1786	Hs.202672			Journal of human genetics. 2004 ;49(11):642-6	Association analyses of DNA methyltransferase-1 (DNMT1) polymorphisms with systemic lupus erythematosus.		126375	10115	2	2004	The DNMT1 variations and haplotypes clarified in this study would provide valuable information for future genetic studies of other autoimmune diseases.	Cohort 680 Korean individuals with systemic lupus erythematosus 										
121350	Y	lung cancer	CANCER	CAN	Lung Neoplasms	20	20q11.2	DNMT3B	30813851	30860823		Shen H et al. 2002	12208751			promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			KGB	1789	Hs.251673			Cancer research. 2002 Sep;62(17):4992-5	A novel polymorphism in human cytosine DNA-methyltransferase-3B promoter is associated with an increased risk of lung cancer.		602900	2077	1	2002	These results suggest that this novel variant of DNMT3B is associated with increased risk of lung cancer and may contribute to identifying individuals genetically susceptible to tobacco-induced cancers. Additional studies on the underlying molecular mechanism of this polymorphism are warranted.	Case:319 lung cancer cases;Control:340 healthy controls frequency matched on age (+/-5 years), sex, ethnicity, and smoking status										
121345		breast cancer	CANCER	CAN		16	16p13.3	DNASE1	3642940	3648097		Yasuda, T.  et al. 2004	15363449				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Japanese		CDC GDPinfo	1773	Hs.629638			Legal medicine (Tokyo, Japan). 2004 Oct;6(4):242-5	A novel 56-bp variable tandem repeat polymorphism in the human deoxyribonuclease I gene and its population data.		125505	10112	2	2004	Although there was a general uniformity for the polymorphism in the Japanese population, significant differences in genotype distribution were found between the Japanese and German populations. Furthermore, linkage disequilibrium between the HumDN1 and DNase I protein polymorphisms was revealed.	Cohort 423/89 Japanese (n=423) and Germans (n=89) 										
121346		breast cancer	CANCER	CAN		16	16p13.3	DNASE1	3642940	3648097			16382368				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Turkish		CDC GDPinfo	1773	Hs.629638			Biochemical genetics. 2005 Dec;43(12-Nov):629-35	Analysis of genetic polymorphism of deoxyribonuclease I in ovambo and turk populations using a genotyping method		125505	10113	2	2005												
121347		lupus erythematosus	IMMUNE	IMM		16	16p13.3	DNASE1	3642940	3648097		Takeshita, H.  et al. 2001	11332641				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Japanese		CDC GDPinfo	1773	Hs.629638			Human biology; an international record of research. 2001 Feb;73(1):129-34	Geographical north-south decline in DNASE1*2 in Japanese populations.		125505	16347	2	2001	Our examination of DNase I types revealed a decreasing north-to-south gradient in the DNASE1 allele.	Cohort 2000 Japanese subjects living in nine prefectures Japan 										
121343		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p13.3	DNASE1	3642940	3648097		Chakraborty P 2003	14613299				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3		Tunisia	Y Wang	1773	Hs.629638			Arthritis and rheumatism. 2003 Nov;48(11):3297-8	The A/T mutation in exon 2 of the DNASE1 gene is not present in Tunisian patients with systemic lupus erythematosus or in healthy subjects.		125505	2076	1	2003												
121344		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p13.3	DNASE1	3642940	3648097		Shin, H. D.  et al. 2004	15333586				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Japanese		CDC GDPinfo	1773	Hs.629638			Human molecular genetics. 2004 Oct;13(20):2343-50	Common DNASE1 Polymorphism Associated with Autoantibody Production Among Systemic Lupus Erythematosus Patients		125505	10111	2	2004	The frequency of the homozygous minor allele (Arg/Arg) was much higher in patients who had the anti-RNP antibody (31.3%) than in patients who did not have this antibody (14.4%) (P=0.0006, OR=2.86). In addition, the A/T mutation in exon 2 of DNASE reported in two Japanese SLE patients was not present in SLE patients (n=350) or controls (n=330) in our Korean population which, combined with the results of previous reports, strongly suggests that the mutation is not present in three major ethnic	Control:330:controls;Case:350 systemic lupus erythematousus patients:Korea										
121339		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	19	19q13.3	DMPK	50964815	50977655 		Culjkovic, B.  et al. 2000	11121205				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		605377	26843	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
121340		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21	DMTF1	86619663	86663584		Forsti, A.  et al. 2004	15010895				Cyclin D binding myb-like transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021145.2		Poland|Finland	CDC GDPinfo	9988	Hs.556096			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		608491	14833	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
121341	Y	reduced level of RNfrom the DMWD allele adjacent to the expanded repeat	OTHER	OTH	Myotonic Dystrophy	19	19q13.3	DMWD	50978103	50987900		Alwazzan M et al. 1999	10400997				Dystrophia myotonica-containing WD repeat motif	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004943.1			KGB	1762	Hs.515474			Human molecular genetics. 1999 Aug;8(8):1491-7	Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.		609857	2075	1	1999												
121336		cataract	VISION	VIS	Myotonic Dystrophy|Cataract	19	19q13.3	DMPK	50964815	50977655 		Munoz Rojas, M. V.  et al. 2005	15824798				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			Arquivos brasileiros de oftalmologia. 2005 Jan-Feb;68(1):15-20	[Myotonic dystrophy type 1 in cataract patients:molecular diagnosis for screening and genetic counseling]		605377	16346	2	2005	 These results emphazise the importance of screening for MD1 gene carriers among cataract patients, and further genetic counselling.	Cohort 60 select cataract patients 										
121337		carotid artery intima-media thickness	CARDIOVASCULAR	CARD	Thrombosis	19	19q13.3	DMPK	50964815	50977655 		Zannad, F.  et al. 2001	11903304				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3		France	CDC GDPinfo	1760	Hs.631596			Clinical and experimental pharmacology & physiology. 2001 Dec;28(12):1007-10	Environmental and genetic determinants of intima-media thickness of the carotid artery.		605377	21146	2	2001	Associations between CIMT and polymorphisms in the apolipoprotein CIII, cholesteryl ester transfer protein, methylene tetrahydrofolate reductase and fibrinogen genes were observed and explained approximately 20% of CIMT variation in men. 8. In women, none of the studied polymorphisms was associated with CIMT variation. 9. Our study gives new perspectives for understanding CIMT variability in healthy middle-aged subjects.	Cohort 369 subjects (aged from 10 to 54 years) from the Stanislas cohort from 89 families 	alcohol smoking (tobacco)									
121338		carotid artery intima-media thickness; spinocerebellar ataxia; Huntington's disease; myotonic dystrophy	CARDIOVASCULAR	CARD		19	19q13.3	DMPK	50964815	50977655 		Popova, S. N.  et al. 2001	11781699				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			European journal of human genetics. 2001 Nov;9(11):829-35	Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.		605377	24302	2	2001	The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)(5) and (CTG)(11-14), but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied.	Cohort healthy unrelated individuals from nine East European populations (Russia, Ukrainia, and Belarussian) Cohort healthy unrelated individuals from the Caucasian population Adyg Cohort healthy unrelated individuals from the Siberian Yakut 										
121333		schizophrenia	PSYCH	PSY	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Culjkovic, B.  et al. 2002	11903110				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3		Yugoslavia	CDC GDPinfo	1760	Hs.631596			Acta neurologica Scandinavica. 2002 Jan;105(1):55-8	CTG repeat polymorphism in DMPK gene in healthy Yugoslav population.		605377	10109	2	2002	 Relatively high frequency of large sized normal alleles found in our population, suggest that prevalence of DM1 in Yugoslavia should not be different from the prevalence in other European populations.	Cohort 235 healthy individuals of Yugoslav origin 										
121334		cataract	VISION	VIS	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 			15981568				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3		Asia, Central|Siberia	CDC GDPinfo	1760	Hs.631596			Molekuliarnaia biologiia. 2005 May-Jun;39(3):385-93	[Polymorphism of CTG-repeats in the DMPK gene in populations of Yakutia and central Asia]		605377	10110	2	2005												
121335		myotonic dystrophy type 1	OTHER	OTH	Myotonic Dystrophy|Disease Progression	19	19q13.3	DMPK	50964815	50977655 		Savic, D.  et al. 2002	11793472				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			Human mutation. 2002 Feb;19(2):131-9	250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1.		605377	16345	2	2002	We showed that the largest expansion in each DM1 phenotypic class reflects somatic instability of mutant allele over time independently of progenitor allele size and patient's age at sampling. The mean of the largest expansion was significantly different between phenotypic classes, implying the possible association between expansion-biased somatic instability of mutant alleles over time and progression of neuromuscular symptoms.	Cohort 46 juvenile-adult DM1 patients 										
121330		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	DLST	74418371	74440198		Prince, J. A.  et al. 2001	11436125				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3		Sweden	CDC GDPinfo	1743	Hs.525459			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		126063	27702	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
121331	Y	bone density; tricho-dento-osseous syndrome	METABOLIC	MET	Tooth Abnormalities|Abnormalities, Multiple|Syndrome	17	17q21	DLX3	45422367	45427587		Haldeman, R. J.  et al. 2004	15454107				Distal-less homeo box 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005220.2			CDC GDPinfo	1747	Hs.134194			Bone. 2004 Oct;35(4):988-97	Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome.		600525	16335	2	2004	The markedly increased bone density in individuals having the DLX3, 4 bp DEL,NT3198 mutation shows that this alteration affects both endochondral and intramembranous bone formation and suggests that the DLX3 gene is important in bone formation and/or homeostasis of the appendicular skeleton.	Control:controls;Case tricho-dento-osseous syndrome patients										
121332		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	17	17q21	DLX3	45422367	45427587		Ichikawa, E.  et al. 2005	16247549				Distal-less homeo box 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005220.2	Japanese		CDC GDPinfo	1747	Hs.134194			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		600525	21145	2	2005												
121327	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	DLST	74418371	74440198		Sheu KF et al. 1999	10227647				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3			KGB	1743	Hs.525459			Neurology. 1999 Apr;52(7):1505-7	A DLST genotype associated with reduced risk for Alzheimer's disease.		126063	2074	1	1999												
121328	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	DLST	74418371	74440198		Ma, Q.  et al. 2001	11825528				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3			CDC GDPinfo	1743	Hs.525459			Zhonghua yi xue za zhi. 2001 Oct;81(20):1246-8	[Association between DLST gene polymorphism and Alzheimer's disease]		126063	10108	2	2001	 The AT/AC genotype of DLST gene is associated with an increased risk for SAD.	Case:105 patients with sporadic Alzheimer disease;Control:109 normal controls										
121329	N	Alzheimer's disease; Wernicke-Korsakoff syndrome	NEUROLOGICAL	NEUR	Alzheimer Disease|Korsakoff Syndrome|Alcoholism|Cognition Disorders	14	14q24.3	DLST	74418371	74440198		Matsushita, S.  et al. 2001	11445257				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3	Japanese	Japan	CDC GDPinfo	1743	Hs.525459			Neurobiology of aging. 2001 Jul-Aug;22(4):569-74	No association between DLST gene and Alzheimer's disease or Wernicke-Korsakoff syndrome.		126063	16334	2	2001	Examination of specific DLST gene polymorphism in 247 Japanese AD patients, 53 alcoholic WKS patients, and 368 nondemented Japanese control subjects revealed no significant differences in DLST genotypes and failed to replicate the findings of earlier studies indicating an association between DLST gene polymorphism and AD.	Case:247 Alzheimer's disease patients:Japan;Control:368 nondemented control subjects:Japan;Case:53 alcoholic Wernicke-Korsakoff syndrome patients										
121324	Y	Axial skeletal defects	DEVELOPMENTAL	DEV	Osteochondrodysplasias	19	19q13	DLL3	44681426	44690949		Dunwoodie SL et al. 2002	11923214				Delta-like 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016941.2			KGB	10683	Hs.127792			Development (Cambridge, England). 2002 Apr;129(7):	Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.		602768 		6673	1	2002												
121325	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Korsakoff Syndrome|Alcoholism|Cognition Disorders	14	14q24.3	DLST	74418371	74440198	n	Matsushita S et al. 2001	11445257				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3		Japan	KGB	1743	Hs.525459			Neurobiology of aging. 2001 Jul-Aug;22(4):569-74	No association between DLST gene and Alzheimer's disease or Wernicke-Korsakoff syndrome.		126063	2072	1	2001	Examination of specific DLST gene polymorphism in 247 Japanese AD patients, 53 alcoholic WKS patients, and 368 nondemented Japanese control subjects revealed no significant differences in DLST genotypes and failed to replicate the findings of earlier studies indicating an association between DLST gene polymorphism and AD.	Case:247 Alzheimer's disease patients:Japan;Control:368 nondemented control subjects:Japan;Case:53 alcoholic Wernicke-Korsakoff syndrome patients										
121326	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	DLST	74418371	74440198		Ma Q et al. 2001	11825528				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001933.3			KGB	1743	Hs.525459			Zhonghua yi xue za zhi. 2001 Oct;81(20):1246-8	Association between DLST gene polymorphism and Alzheimer's disease		126063	2073	1	2001	 The AT/AC genotype of DLST gene is associated with an increased risk for SAD.	Case:105 patients with sporadic Alzheimer disease;Control:109 normal controls										
121320	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Daly, M. J.  et al. 2005	15841097	R30Q			Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3		Quebec|Great Britain	CDC GDPinfo	9231	Hs.500245			European journal of human genetics. 2005 Jul;13(7):835-9	Association of DLG5 R30Q variant with inflammatory bowel disease.		604090	16332	2	2005	This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect.	Case inflammatory bowel disease cases from two well-powered, independent case-control cohorts;Control controls from two well-powered, independent case-control cohorts										
121321	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Noble, C. L.  et al. 2005	15843420				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	German	Scotland	CDC GDPinfo	9231	Hs.500245			Gut. 2005 Oct;54(10):1416-20	DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population.		604090	16333	2	2005	 The present data contrast strongly with previous data from Germany. DLG5 113A is not associated with disease susceptibility and haplotype A does not confer resistance. Further work is required to evaluate the significance of DLG5 in other populations from geographically diverse regions.	Control:294 healthy controls;Case:374/305 Crohn's disease (n=374) and ulcerative colitits:(n=305) cases:Scotland										
121322		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	10	10q23	DLG5	79220554	79356354		Stoll, M.  et al. 2004	15107852				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3		Europe	CDC GDPinfo	9231	Hs.500245			Nature genetics. 2004 May;36(5):476-80	Genetic variation in DLG5 is associated with inflammatory bowel disease		604090	21143	2	2004	This is suggestive of a complex pattern of gene-gene interaction between DLG5 and CARD15, reflecting the complex nature of polygenic diseases. Further functional studies will evaluate the biological significance of DLG5 variants.											
121316	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q31-q32	DLD	107318821	107348879		Brown, A. M.  et al. 2004	15389771			3'untranslated	Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000108.3	Jewish (mostly)		CDC GDPinfo	1738	Hs.131711			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):60-6	Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population.	rs8721, rs17154615, rs4564	246900	16329	2	2004	The DLD genotype appears to operate independently of APOE in conferring AD risk.	Control:controls;Case Alzheimer's disease cases New York, NY									none	
121317		schizophrenia	PSYCH	PSY	Schizophrenia	17	17p13.1	DLG4	7033933	7063745		Aoyama, S.  et al. 2003	12950712				Discs, large homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001365.1			CDC GDPinfo	1742	Hs.463928			Psychiatry and clinical neurosciences. 2003 Oct;57(5):545-7	Mutation and association analysis of the DAP-1 gene with schizophrenia.		602887	16330	2	2003	The results do not provide evidence that the DAP-1 gene is involved in vulnerability to schizophrenia.	Case schizophrenic patients;Control:controls										
121318	Y	Crohn's disease and IBD	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	10	10q23	DLG5	79220554	79356354	P = 0.0006	Stoll M 2004	15107852				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European	Europe	KGB	9231	Hs.500245			Nature genetics. 2004 May;36(5):476-80	Genetic variation in DLG5 is associated with inflammatory bowel disease		604090	6617	1	2004	This is suggestive of a complex pattern of gene-gene interaction between DLG5 and CARD15, reflecting the complex nature of polygenic diseases. Further functional studies will evaluate the biological significance of DLG5 variants.											
121313		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	X	Xq28	DKC1	153644343	153659154		Yamaguchi, H.  et al. 2005	15814878				Dyskeratosis congenita 1, dyskerin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001363.2			CDC GDPinfo	1736	Hs.4747			The New England journal of medicine. 2005 Apr;352(14):1413-24	Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.		300126	18568	2	2005	 Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.	Case:124/81 patients with apparent acquired aplastic anemia with an additional number examined for genetic variations in TERT (n=81);Control:282/246 control subjects and an additional number examined for genetic variations in TERT (n=246)										
121314	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	DLC1	12985242	13416766		Zheng SL 2003	12873722				Deleted in liver cancer 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182643.1			KGB	10395	Hs.134296			Mutation research. 2003 Jul;528(2-Jan):45-53	Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen and association study.		604258	6663	1	2003	These results suggest that DLC1 is unlikely to play an important role in prostate cancer susceptibility.	Control:222 unaffected controls;Case:249 sporadic prostate cancer cases										
121315	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	DLC1	12985242	13416766		Zheng, S. L.  et al. 2003	12873722				Deleted in liver cancer 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182643.1			CDC GDPinfo	10395	Hs.134296			Mutation research. 2003 Jul;528(2-Jan):45-53	Evaluation of DLC1 as a prostate cancer susceptibility gene: mutation screen andassociation study.		604258	16328	2	2003	These results suggest that DLC1 is unlikely to play an important role in prostate cancer susceptibility.	Control:222 unaffected controls;Case:249 sporadic prostate cancer cases										
121308		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Zhang, X.  et al. 2005	16039834				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	Japanese		CDC GDPinfo	27185	Hs.13318			Schizophrenia research. 2005 Nov;79(3-Feb):175-80	Association study of the DISC1/TRAX locus with schizophrenia in a Japanese population.		605210	16324	2	2005												
121309	Y	cognitive function	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Thomson, P. A.  et al. 2005	16054297				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDPinfo	27185	Hs.13318			Neuroscience letters. 2005 Nov;389(1):41-5	Association between genotype at an exonic SNP in DISC1 and normal cognitive aging.		605210	16325	2	2005												
121310		cognitive function	PSYCH	PSY	Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Burdick, K. E.  et al. 2005	16056147				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDPinfo	27185	Hs.13318			Neuroreport. 2005 Aug;16(12):1399-402	DISC1 and neurocognitive function in schizophrenia.		605210	16326	2	2005												
121311	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641			16389590				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDPinfo	27185	Hs.13318			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):155-9	Genetic association between schizophrenia and the DISC1 gene in the Scottish population		605210	16327	2	2006												
121305		insulin resistance	METABOLIC	MET	Insulin Resistance|Obesity	14	14q24.2-q24.3	DIO2	79733621	79748276		Mentuccia, D.  et al. 2002	11872697				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDPinfo	1734	Hs.202354			Diabetes. 2002 Mar;51(3):880-3	Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with theTrp64Arg variant of the beta-3-adrenergic receptor.		601413	21142	2	2002	This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants.	Cohort 972 nondiabetic patients, 135 of whom underwent euglycemic-hyperinsulinemic clamps 										
121306	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Kockelkorn, T. T.  et al. 2004	15342131				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	Japanese		CDC GDPinfo	27185	Hs.13318			Neuroscience letters. 2004 Sep;368(1):41-5	Association study of polymorphisms in the 5' upstream region of human DISC1 gene with schizophrenia		605210	10107	2	2004	These results suggest that the genomic interval of DISC1 probably involved in transcriptional regulation does not display major genetic relevance in Japanese schizophrenia patients.	Case:198 Japanese cases of schizophrenia;Control:198:controls;Control:519:controls;Case:532 Japanese independent schizophrenic cases										
121307	Y	schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Hodgkinson, C. A.  et al. 2004	15386212				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDPinfo	27185	Hs.13318			American journal of human genetics. 2004 Nov;75(5):862-72	Disrupted in schizophrenia 1 (DISC1): associationwith schizophrenia, schizoaffective disorder, and bipolar disorder		605210	16323	2	2004	These data support the idea that these apparently distinct disorders have at least a partially convergent etiology and that variation at the DISC1 locus predisposes individuals to a variety of psychiatric disorders.	Case North American white schizophrenia and schizoaffective disorder cases;Control:controls										
121302	N	cognitive ability; hypothyroidism	PSYCH	PSY	Hypothyroidism	14	14q24.2-q24.3	DIO2	79733621	79748276		Appelhof, B. C.  et al. 2005	16144953				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDPinfo	1734	Hs.202354			The Journal of clinical endocrinology and metabolism. 2005 Nov;90(11):6296-9	Polymorphisms in type 2 are not associated with well-being, neurocognitive functioning, and preference for combined thyroxine/3,5,3'-triiodothyronine therapy		601413	10106	2	2005	 The DII-ORFa-Gly3Asp and DII-Thr92Ala polymorphisms do not explain differences in well-being, neurocognitive functioning, or appreciation of T4/T3 combination therapy in patients treated for hypothyroidism.											
121303	Y	mental retardation	DEVELOPMENTAL	DEV	Mental Retardation	14	14q24.2-q24.3	DIO2	79733621	79748276		Guo, T. W.  et al. 2004	15286152				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2		China	CDC GDPinfo	1734	Hs.202354			Journal of medical genetics. 2004 Aug;41(8):585-90	Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China		601413	16321	2	2004	 We conclude that allelic variation in the DIO2 gene may affect the amount of T3 available and in an iodine-deficient environment may partly determine overall risk of MR.	Control:controls;Case mental retardation cases										
121304	N	body mass; diabetes, type 2; glucose tolerance; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	14	14q24.2-q24.3	DIO2	79733621	79748276			16356084	Thr92Ala			Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDPinfo	1734	Hs.202354			Thyroid. 2005 Nov;15(11):1223-7	The Thr92Ala Deiodinase Type 2 (DIO2) Variant Is Not Associated with Type 2 Diabetes or Indices of Insulin Resistance in the Old Order of Amish		601413	16322	2	2005												
121299	Y	insulin resistance	METABOLIC	MET	Insulin Resistance|Obesity	14	14q24.2-q24.3	DIO2	79733621	79748276		Mentuccia D et al. 2002	11872697				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			KGB	1734	Hs.202354			Diabetes. 2002 Mar;51(3):880-3	Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor.		601413	2071	1	2002	This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants.	Cohort 972 nondiabetic patients, 135 of whom underwent euglycemic-hyperinsulinemic clamps										
121300	Y	hormone disturbance	METABOLIC	MET	Genetic Predisposition to Disease	14	14q24.2-q24.3	DIO2	79733621	79748276		Peeters, R. P.  et al. 2005	15727947				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2		Netherlands	CDC GDPinfo	1734	Hs.202354			American journal of physiology Endocrinology and metabolism. 2005 Jul;289(1):E75-81	A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters.		601413	10104	2	2005	This new polymorphism in the 5'-UTR of D2 is associated with iodothyronine levels in blood donors, but not in elderly men. We hypothesize that this might be explained by the decline in skeletal muscle size during aging, resulting in a relative decrease in the contribution of D2 to serum T3 production.	Cohort 156/350 healthy blood donors (n=156. age 46.3+/-12.2) and 350 ambulant elderly men (n=350, age 77.7+/-3.5) 										
121301	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	14	14q24.2-q24.3	DIO2	79733621	79748276		Canani, L. H.  et al. 2005	15797963	A/G (Thr92Ala)			Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDPinfo	1734	Hs.202354			The Journal of clinical endocrinology and metabolism. 2005 Jun;90(6):3472-8	The type 2 deiodinase A/G (Thr92Ala) polymorphism is associated with decreased enzyme velocity and increased insulin resistance in patients with type 2 diabetes mellitus.		601413	10105	2	2005	In conclusions, the A/G polymorphism is associated with greater insulin resistance in DM2 patients and with lower D2 velocity in tissue samples. These findings suggest that the D2-generated T3 in skeletal muscle plays a role in insulin resistance.	Cohort 183 patients with type 2 diabetes 										
121296	Y	Smith-Lemli-Opitz syndrome	UNKNOWN	UNK	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	5	5q11.2-q13.2	DHFR	79957800	79986556		Goto, Y.  et al. 2001	11448909				Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3			CDC GDPinfo	1719	Hs.83765			Clinical cancer research. 2001 Jul;7(7):1952-6	A novel single-nucleotide polymorphism in the 3'-untranslated region of the human dihydrofolate reductase gene with enhanced expression.		126060	10101	2	2001	There was no significant difference in genotype frequencies between the cases and controls. These data suggest that the novel DHFR 829 polymorphism is associated with a positive role in gene expression and provide evidence of a functional SNP in the 3' regulatory region of the gene.	Case:37 patients with childhood leukemias/lymphomas:Japan;Control:83 healthy children:Japan	methotrexate									
121297	Y	birth weight; preterm delivery	REPRODUCTION	REP	Premature Birth	5	5q11.2-q13.2	DHFR	79957800	79986556		Johnson, W.G.  et al. 2005	15755837				Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3			CDC GDPinfo	1719	Hs.83765			The American journal of clinical nutrition. 2005 Mar;81(3):664-8	Common dihydrofolate reductase 19-base pair deletion allele: a novel risk factor for pretermdelivery.		126060	10102	2	2005	 The DHFR 19-base pair deletion allele may be a risk factor for preterm delivery. In the presence of low dietary folate, the allele may also be a risk factor for low birth weight. This may be a gene-environment interaction.	Cohort 324 pregnant women Camden, NJ 	folate									
121298	Y	body mass; muscle testing; IGF-I	METABOLIC	MET		1	1p33-p32	DIO1	54132448	54149347		Peeters, R. P.  et al. 2004	15483075				Deiodinase, iodothyronine, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000792.5			CDC GDPinfo	1733	Hs.251415			The Journal of clinical endocrinology and metabolism. 2005 Jan;90(1):256-63	A polymorphism in type I deiodinase is associated with circulating free insulin-like growth factor I levels and body composition in humans.		147892	10103	2	2004	A polymorphism that results in a decreased D1 activity is associated with an increase in free IGF-I levels. The pathophysiological significance of this association with IGF-I is supported by an increased muscle strength and muscle mass in carriers of the D1 haplotype 2 allele in a population of elderly men. The association of D1 haplotype allele 2 with serum T3 levels in the elderly population suggests a relative increase in its contribution to circulating T3 in old age.	Cohort 156/350 blood donors (n=156) and elderly men (n=350) 										
121293		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	11	11q13.2-q13.5	DHCR7	70823104	70837125		Nowaczyk, M. J.  et al. 2001	11503168				7-dehydrocholesterol reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001360.1		Europe	CDC GDPinfo	1717	Hs.503134			American journal of medical genetics. 2001 Sep;102(4):383-6	Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.		602858	16318	2	2001	Ours is the first report of the IVS8-1G-->C mutation in persons of African ancestry	Cohort 2978 individuals of European Caucasian and Black backgrounds 										
121294		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	11	11q13.2-q13.5	DHCR7	70823104	70837125		Ciara, E.  et al. 2004	15521979				7-dehydrocholesterol reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001360.1	Polish	Poland	CDC GDPinfo	1717	Hs.503134			Clinical genetics. 2004 Dec;66(6):517-24	DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.		602858	16319	2	2004	In compound heterozygotes with one null mutation, the phenotype severity depends on the localization	Cohort 37 Polish patients with Smith-Lemli-Opitz syndrome 										
121295		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	11	11q13.2-q13.5	DHCR7	70823104	70837125		Witsch-Baumgartner, M.  et al. 2004	15286151				7-dehydrocholesterol reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001360.1			CDC GDPinfo	1717	Hs.503134			Journal of medical genetics. 2004 Aug;41(8):577-84	Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome		602858	21141	2	2004	 These results suggest that the efficiency of cholesterol transport from the mother to the embryo is affected by the maternal apo E genotype and extend the role of apo E and its disease associations to modulation of embryonic development and malformations.	Cohort 137 biochemically characterised patients with Smith-Lemli-Opitz syndrome and 59 of their parents 										
121290	Y	body mass; cholesterol, HDL; blood pressure	METABOLIC	MET	Body Weight	8	8q24.3	DGAT1	145510762	145521350		Ludwig, E.  et al. 2002	12123490			promoter	Diacylglycerol O-acyltransferase homolog 1 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012079.2	Turkish	Turkey	CDC GDPinfo	8694	Hs.521954			Clinical genetics. 2002 Jul;62(1):68-73	DGAT1 promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women.		604900	10099	2	2002	Our findings suggest that genetic variation at the DGAT1 locus may influence BMI and other metabolic parameters associated with cardiovascular risk in selected human populations.	Cohort 476/846 random Turkis population (women=476, men=846) 										
121291	N	obesity	METABOLIC	MET	Obesity, Morbid	8	8q24.3	DGAT1	145510762	145521350		Coudreau, S. K.  et al. 2003	14569040	C79T			Diacylglycerol O-acyltransferase homolog 1 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012079.2	French	France	CDC GDPinfo	8694	Hs.521954			Obesity research. 2003 Oct;11(10):1163-7	Role of the DGAT gene C79T single-nucleotide polymorphism in French obese subjects.		604900	10100	2	2003	Although the T79C SNP of the DGAT gene was studied in several groups of white subjects, the association between this SNP and obesity-related phenotypes, previously described, was not confirmed in our population.	Control:contr;Case:1,357 obese French adults and children										
121292		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	11	11q13.2-q13.5	DHCR7	70823104	70837125		Battaile, K. P.  et al. 2001	11161831	( IVS8-1G>C )			7-dehydrocholesterol reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001360.1			CDC GDPinfo	1717	Hs.503134			Molecular genetics and metabolism. 2001 Jan;72(1):67-71	Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.		602858	16317	2	2001	The calculated carrier frequency for all mutations based on this result is 1 in 30, predicting an SLOS incidence of 1 in 1590 to 1 in 13,500. The current incidence estimate may, therefore, significantly underestimate the true incidence of SLOS. This discrepancy between calculated and observed incidence could be due to undiagnosed mild cases, misdiagnosed severe cases, death prior to diagnosis, or fetal loss. More comprehensive incidence studies are needed to determine if SLOS is as common as predicted by the very high (1 in 30) carrier frequency determined in this study.	Cohort 1503 anonymous blood samples from random newborn screening blood spot cards 										
121287		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	8	8p23	DEFB103A	7776135	7777590		Vankeerberghen, A.  et al. 2005	15820309				Defensin, beta 103A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018661.2		Europe	CDC GDPinfo	55894	Hs.283082			Genomics. 2005 May;85(5):574-81	Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.		606611	21139	2	2005	Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found.	Case cystic fibrosis patients:Europe;Control healthy individuals										
121288		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Iridocyclitis	6	6p23	DEK	18332378	18372778		Murray KJ et al. 1997	9058666				DEK oncogene (DNA binding)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003472.2			KGB	7913	Hs.484813			The Journal of rheumatology. 1997 Mar;24(3):560-7	Antibodies to the 45 kDa DEK nuclear antigen in pauciarticular onset juvenile rheumatoid arthritis and iridocyclitis: selective association with MHC gene.		125264	6558	1	1997	 Antibodies to the 45 kDa DEK protein are characteristic of the pauciarticular onset subtype of JRA, particularly in patients with a history of iridocyclitis. The occurrence of anti-DEK antibodies is significantly but paradoxically associated with the presence of the HLA-A2 allele in such patients.											
121289		desmin-associated restrictive cardiomyopathy.	CARDIOVASCULAR	CARD	Cardiomyopathy, Restrictive	2	2q35	DES	219991342	219999705		Zhang J et al. 2001	11298680				Desmin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001927.3			KGB	1674	Hs.594952			Clinical genetics. 2001 Apr;59(4):248-56	Clinical and molecular studies of a large family with desmin-associated restrictive cardiomyopathy.		125660	2057	1	2001												
121283	N	periodontal disease	IMMUNE	IMM	Periodontal Diseases	8	8p23.2-p23.1	DEFB1	6715508	6722939		Boniotto, M.  et al. 2004	15242954				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDPinfo	1672	Hs.32949			Clinical and diagnostic laboratory immunology. 2004 Jul;11(4):766-9	Novel hairpin-shaped primer assay to study the association of the -44 single-nucleotide polymorphism of the DEFB1 gene with early-onset periodontal disease.		602056	10096	2	2004	The results indicate that the -44 SNP has a similar distribution between EOP and healthy patients, suggesting that it is not associated with the disease.	Control healthy controls from different ethnic backgrounds;Case human DNA samples obtained from two cohorts of early onset periodontal disease										
121284	Y	asthma	IMMUNE	IMM	Asthma	8	8p23.2-p23.1	DEFB1	6715508	6722939		Levy, H.  et al. 2005	15696078				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDPinfo	1672	Hs.32949			The Journal of allergy and clinical immunology. 2005 Feb;115(2):252-8	Association of defensin beta-1 gene polymorphisms with asthma.		602056	10097	2	2005	 Variation in DEFB1 contributes to asthma diagnosis, with apparent gender-specific effects.	Case:517 asthmatics from the Nurses' Health Study;Control:519 controls from the Nurses' Health Study										
121285	N	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	8	8p23.2-p23.1	DEFB1	6715508	6722939		Vankeerberghen, A.  et al. 2005	15820309				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3		Europe	CDC GDPinfo	1672	Hs.32949			Genomics. 2005 May;85(5):574-81	Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.		602056	10098	2	2005	Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found.	Case cystic fibrosis patients:Europe;Control healthy individuals										
121280	Y	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	P=0.0012	Matsushita I 2002	11829455	Val38Ile			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Japanese	Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2056	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121281	Y	Candida	INFECTION	INF	Candidiasis|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	8	8p23.2-p23.1	DEFB1	6715508	6722939		Jurevic, R. J.  et al. 2003	12517831				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDPinfo	1672	Hs.32949			Journal of clinical microbiology. 2003 Jan;41(1):90-6	Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays andassociation with Candida carriage in type I diabetics and nondiabetic controls		602056	10094	2	2003	These results indicate that genetic variations in the DEFB1 gene encoding hBD-1 may have a major role in mediating and/or contributing to susceptibility to oral infection.	Case:43 type 1 diabetic patients;Control:50 nondiabetic controls										
121282		cystic fibrosis; Candida	INFECTION	INF		8	8p23.2-p23.1	DEFB1	6715508	6722939		Jurevic, R. J.  et al. 2002	12537649				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDPinfo	1672	Hs.32949			Genetic testing. 2002 ;6(4):261-9	Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations.		602056	10095	2	2002	Our results show that genotypic variability among ethnic groups will need to be addressed when performing associative genetic studies of innate defense mechanisms and susceptibility to disease.	Cohort five ethnic populations 										
121275	Y	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	P=0.0012	Matsushita I 2002	11829455	Val38Ile			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3		Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2051	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121277	N	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	n	Matsushita I 2002	11829455	Ala48Val			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Japanese	Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2053	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121278	N	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	n	Matsushita I 2002	11829455	C-44G			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Japanese	Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2054	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121272		apoptosis	CANCER	CAN	Stomach Neoplasms	12	12q13.1-q13.2	DDIT3	56196637	56200567		Kim R et al. 1999	10470115				DNA-damage-inducible transcript 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004083.4			KGB	1649	Hs.505777			Anticancer research. 1999 May-Jun;19(3A):1779-83	Introduction of gadd153 gene into gastric cancer cells can modulate sensitivity to anticancer agents in association with apoptosis.		126337	2050	1	1999												
121273	N	juvenile oligoarthritis	OTHER	OTH	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	DDR1	30959839	30975912		Zeggini, E.  et al. 2004	15213330				Discoidin domain receptor family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013993.2			CDC GDPinfo	780	Hs.593011			Rheumatology (Oxford, England). 2004 Sep;43(9):1138-41	Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis.		600408	10092	2	2004	 The DDR1 SNPs examined are not involved in susceptibility to juvenile oligoarthritis.	Case:135 simplex juvenile idiopathic arthritis families consisting of one affected child and healthy:parent(s);Control:199 healthy individuals										
121274	Y	azoospermia; oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia	11	11q24	DDX25	125279612	125298215		Zhoucun A.  et al. 2005	16293649				DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013264.2			CDC GDPinfo	29118	Hs.420263			Human reproduction (Oxford, England). 2005	Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment.		607663	10093	2	2005	 Results of the present study indicate that SNP IVS6+55G--T and c.852C--T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia, suggesting that variations in GRTH gene may contribute to susceptibility to spermatogenic impairment in humans.											
121269	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	7	7p11	DDC	50493627	50600537		Jahnes E et al. 2002	12116187				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2			KGB	1644	Hs.359698			American journal of medical genetics. 2002 Jul;114(5):519-22	Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder.		107930	2049	1	2002	Thus, our results do not support an involvement of the 1-bp or 4-bp deletion within the DDC gene in the etiology of affective disorders.	Case:228/183 unrelated German patients with BPAD (208 patients with BP I disorder, 20 patients with BP II disorder, n=228), and unrelated patients with unipolar affective disorder (n=183);Control:234 healthy control subjects										
121270	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	7	7p11	DDC	50493627	50600537		Zhang, B.  et al. 2004	15318031				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2	Chinese		CDC GDPinfo	1644	Hs.359698			Psychiatric genetics. 2004 Sep;14(3):161-3	No association between polymorphisms in the DDC gene and paranoid schizophrenia in a northern Chinese population.		107930	10091	2	2004	We conclude that  the polymorphisms studied do not play a major role in paranoid schizophrenia pathogenesis in the population investigated.	Control:108:controls;Case:80 paranoid schizophrenics northern China										
121271	N	bipolar affective disorder; unipolar affective disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	7	7p11	DDC	50493627	50600537		Jahnes, E.  et al. 2002	12116187				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2			CDC GDPinfo	1644	Hs.359698			American journal of medical genetics. 2002 Jul;114(5):519-22	Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder.		107930	16315	2	2002	Thus, our results do not support an involvement of the 1-bp or 4-bp deletion within the DDC gene in the etiology of affective disorders.	Case:228/183 unrelated German patients with BPAD (208 patients with BP I disorder, 20 patients with BP II disorder, n=228), and unrelated patients with unipolar affective disorder (n=183);Control:234 healthy control subjects										
121265	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	X	Xq22.3-q23	DCX	110423662	110542062		Vourc'h, P.  et al. 2002	11857568				Doublecortex; lissencephaly, X-linked (doublecortin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000555.2			CDC GDPinfo	1641	Hs.34780			American journal of medical genetics. 2002 Mar;108(2):164-7	Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder.		300121	16313	2	2002	Our results make improbable a participation of the DCX gene in epilepsy and mental reardation observed in patients with autism or in the autistic disorder itself.	Control:165 volunteers and anonymous persons selected after ethnic and medical questionnaire;Case:59 patients with autism										
121266	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1p22	DDAH1	85556755	85816521		Akbar, F.  et al. 2004	15501905				Dimethylarginine dimethylaminohydrolase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012137.2		Finland	CDC GDPinfo	23576	Hs.379858			Molecular human reproduction. 2005 Jan;11(1):73-7	Haplotypic association of DDAH1 with susceptibility to pre-eclampsia		604743	16314	2	2004	The observed haplotypic association provides the first evidence of the importance of DDAH1 polymorphisms in pre-eclampsia susceptibility.	Control:112 healthy controls;Case:132 women with pre-eclampsia										
121267		bipolar affective disorder.	PSYCH	PSY	Bipolar Disorder	7	7p11	DDC	50493627	50600537		Borglum AD et al. 1999	10578236				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2			KGB	1644	Hs.359698			Molecular psychiatry. 1999 Nov;4(6):545-51	Two novel variants in the DOPA decarboxylase gene: association with bipolar affective disorder.		107930	2047	1	1999												
121268		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	7	7p11	DDC	50493627	50600537		Hawi Z et al. 2001	11443526				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2	Irish		KGB	1644	Hs.359698			Molecular psychiatry. 2001 Jul;6(4):420-4	Dopa decarboxylase gene polymorphisms and attention deficit hyperactivity disorder (ADHD): no evidence for association in the Irish population.		107930	2048	1	2001												
121262	Y	renal disease	IMMUNE	IMM	Diabetic Nephropathies|Proteinuria|Diabetes Mellitus, Type 1|Disease Progression	12	12q13.2	DCN	90063165	90100937		De Cosmo, S.  et al. 2002	12187087	179 allelic variant			Decorin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001920.3			CDC GDPinfo	1634	Hs.642609			Nephron. 2002 Sep;92(1):72-6	The Decorin gene 179 allelic variant is associated with a slower progression of renal disease in patients with type 1 diabetes		125255	16311	2	2002	 The 179 allele variant of the Decorin gene is related to a slower progression of DN in type 1 diabetic patients with albuminuria and receiving antihypertensive therapy.	Cohort 79 patients from 175 European patients with diabetic nephropathy who had at least 2 years follow-up 										
121263		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	5	5q31.1	DCOHM	134268708	134333243		Boutin P 1999	10096793	Gly574Ser			6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032151		Senegal|United States	Y Wang	84105	Hs.527213			Diabetologia. 1999 Mar;42(3):380-1	Missense mutation Gly574Ser in the transcription factor HNF-1alpha is a marker of atypical diabetes mellitus in African-American children.		609836	6850	1	1999												
121264		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	2	2p13	DCTN1	74441789	74472502		Munch, C.  et al. 2004	15326253				Dynactin 1 (p150, glued homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004082.2			CDC GDPinfo	1639	Hs.516111			Neurology. 2004 Aug;63(4):724-6	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.		601143	16312	2	2004	The allelic variants of the DCTN1 gene may represent a previously unknown genomic risk factor for ALS.	Control:150 unrelated control subjects;Case:250 patients with amyotrophic lateral sclerosis										
121259		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	18	18q21.3	DCC	48120568	49311780		Starinsky, S.  et al. 2004	15523694				Deleted in colorectal carcinoma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005215.1		Israel	CDC GDPinfo	1630	Hs.579550			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		120470	27409	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
121260	Y	leukemia	CANCER	CAN	Leukemia, Myeloid|Acute Disease	4	4q13.3-q21.1	DCK	72078255	72115477		Shi, J. Y.  et al. 2004	15564883				Deoxycytidine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000788.1			CDC GDPinfo	1633	Hs.709			Pharmacogenetics. 2004 Nov;14(11):759-68	Association between single nucleotide polymorphisms in deoxycytidine kinase and treatment response among acute myeloid leukaemia patients.		125450	10090	2	2004	These results indicate that rSNP haplotypes of dCK gene may serve as a genetic marker for predicting drug responsiveness, which will be beneficial in establishing more effective AML chemotherapeutic regimens.	Cohort 122 acute myeloid lukemia patients 	chemotherapy									
121261	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Proteinuria|Diabetes Mellitus, Type 1|Disease Progression	12	12q13.2	DCN	90063165	90100937		De Cosmo S et al. 2002	12187087				Decorin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001920.3			KGB	1634	Hs.642609			Nephron. 2002 Sep;92(1):72-6	The Decorin gene 179 allelic variant is associated with a slower progression of renal disease in patients with type 1 diabetes.		125255	1725	1	2002	 The 179 allele variant of the Decorin gene is related to a slower progression of DN in type 1 diabetic patients with albuminuria and receiving antihypertensive therapy.	Cohort 79 patients from 175 European patients with diabetic nephropathy who had at least 2 years follow-up										
121256		schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	18	18q21.3	DCC	48120568	49311780		Speight G et al. 2000	10889538				Deleted in colorectal carcinoma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005215.1			KGB	1630	Hs.579550			Molecular psychiatry. 2000 May;5(3):327-31	Comparative sequencing and association studies of aromatic L-amino acid decarboxylase in schizophrenia and bipolar disorder.		120470	1724	1	2000												
121257	N	rheumatoid arthritis; diabetes, type 1; Graves' disease	IMMUNE	IMM	Colorectal Neoplasms|Autoimmune Diseases	18	18q21.3	DCC	48120568	49311780		Hall, R. J.  et al. 2003	14571268	Arg201Gly			Deleted in colorectal carcinoma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005215.1			CDC GDPinfo	1630	Hs.579550			European journal of human genetics. 2003 Nov;11(11):840-4	The deleted in colorectal carcinoma (DCC) gene 201 R --> G polymorphism: no evidence for geneticassociation with autoimmune disease.		120470	10088	2	2003	Thus, the DCC 201 R --> G polymorphism does not appreciably influence risk of developing the autoimmune diseases tested.	Control:2,225 control subjects;Case:2,253 subjects with rheumatoid arthritis, type I diabetes and Graves' disease New Zealand and UK										
121258	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	18	18q21.3	DCC	48120568	49311780		de Jong, M. M.  et al. 2004	15646429	Arg201Gly			Deleted in colorectal carcinoma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005215.1			CDC GDPinfo	1630	Hs.579550			Digestive and liver disease. 2004 Dec;36(12):821-3	No association between the Arg201Gly polymorphism of the DCC gene and colorectal cancer.		120470	10089	2	2004	 No association was observed between the Arg201Gly polymorphism of DCC and colorectal cancer risk.	Control:220:controls;Case:625 unselected Caucasian colorectal cancer patients	family history									
121252		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.3	DBP	53825756	53832400		Ongagna, J. C.  et al. 2005	15820770				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2			CDC GDPinfo	1628	Hs.414480			Clinical biochemistry. 2005 May;38(5):415-9	Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes.		124097	10087	2	2005	These finding supports a role of the vitamin D endocrine system in the autoimmune process of type 1 diabetes.	Case:110 type 1 diabetic subjects;Control:68:controls										
121253	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.3	DBP	53825756	53832400		Ye, W. Z.  et al. 2001	11230793				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	French	France	CDC GDPinfo	1628	Hs.414480			Metabolism:  clinical and experimental. 2001 Mar;50(3):366-9	Variations in the vitamin D-binding protein (Gc locus) and risk of type 2 diabetes mellitus in French Caucasians		124097	16308	2	2001	our study suggests that genetic variants of the DBP gene are not associated with the susceptibility to type 2 DM in French Caucasians.	Case French Caucasian type 2 diabetes mellitus patients;Control French Canadian controls										
121254	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.3	DBP	53825756	53832400		Malecki, M. T.  et al. 2002	12062854				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Polish	Poland	CDC GDPinfo	1628	Hs.414480			Diabetes research and clinical practice. 2002 Aug;57(2):99-104	Vitamin D binding protein gene and genetic susceptibility to type 2 diabetes mellitus in a Polish population.		124097	16309	2	2002	No evidence was found for an association between DBP frequent polymorphisms and T2DM in this population.	Control:162:controls;Case:231 type 2 diabetic patients										
121249		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.3	DBP	53825756	53832400		Ongagna JC 2004	11239517				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Alsacian	France	Y Wang	1628	Hs.414480			Clinical biochemistry. 2001 Feb;34(1):59-63	The HLA-DQB alleles and amino acid variants of the vitamin D-binding protein in diabetic patients in Alsace.		124097	1722	1	2004	 The study of the DQB1 chain confirmed the value of alleles encoding for an amino acid different from Asp in position 57 (NA) in the susceptibility to type 1 diabetes. The allele frequency of the HaeIII site, but not of the StyI site, differed between patients and controls (HaeIII p < 0.001; StyI p > 0.05).											
121250		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	19	19q13.3	DBP	53825756	53832400		Klupa T 2004	10576765				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	white Americans of European origin	Massachusetts	Y Wang	1628	Hs.414480			European journal of endocrinology. 1999 Nov;141(5):490-3	Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin.		124097	1723	1	2004	 DNA polymorphisms in the DBP gene are not associated with diabetes in white Americans of European origin.											
121251	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.3	DBP	53825756	53832400		Niino, M.  et al. 2002	12044990				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Japanese	Japan	CDC GDPinfo	1628	Hs.414480			Journal of neuroimmunology. 2002 Jun;127(2-Jan):177-9	No association of vitamin D-binding protein gene polymorphisms in Japanese patients with MS.		124097	10086	2	2002	These results suggest that DBP does not contribute to the development of MS in Japanese.	Case:107 Japanese patients with multiple sclerosis;Control:109 healthy controls										
121245	N	azoospermia, male infertility, oligozoospermia	REPRODUCTION	REP		3	3p24.3	DAZL	16603304	16622010		Becherini, L.  et al. 2004	15595957				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2	Italian		CDC GDPinfo	1618	Hs.131179			International journal of andrology. 2004 Dec;27(6):375-81	DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkableethnic differences.		601486	10075	2	2004	We failed to detect new mutations. We confirmed previous results showing no evidence for a functional role of the T12A mutation. Surprisingly, the T54A polymorphism, which was present in 7.4% of the Chinese patients was absent in our Caucasian population. This remarkable difference represent an example of how ethnic background is important also for polymorphisms involved in spermatogenesis and contributes to better select clinically relevant tests, specifically based on the ethnic origin of the infertile patients.	Case infertile Italian men;Control normospermic Italian men										
121246		azoospermia; infertility, male	REPRODUCTION	REP		3	3p24.3	DAZL	16603304	16622010		Yang, X. J.  et al. 2005	16051679				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2	Japanese		CDC GDPinfo	1618	Hs.131179			Mol Hum Reprod    2005	Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility.		601486	10076	2	2005												
121247		azoospermia; oligospermia; infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia	3	3p24.3	DAZL	16603304	16622010		Yang, X. J.  et al. 2005	16123080				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2	Japanese	Japan	CDC GDPinfo	1618	Hs.131179			Molecular human reproduction. 2005 Jul;11(7):513-5	Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility.		601486	10077	2	2005												
121242	Y	azoospermia; oligospermia	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	3	3p24.3	DAZL	16603304	16622010		Teng, Y. N.  et al. 2002	12414900				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2		Taiwan	CDC GDPinfo	1618	Hs.131179			The Journal of clinical endocrinology and metabolism. 2002 Nov;87(11):5258-64	Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure.		601486	10072	2	2002	Our findings provide strong evidence for the role of the autosomal DAZL gene in human spermatogenesis.	Control:controls;Case:160 infertile Taiwanese men presenting with severe oligozoospermia and nonobstructive asoospermia										
121243		infertility, male	REPRODUCTION	REP	Infertility, Male	3	3p24.3	DAZL	16603304	16622010		Bartoloni, L.  et al. 2004	15220464	T54A			Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2	Italian	Italy	CDC GDPinfo	1618	Hs.131179			Molecular human reproduction. 2004 Aug;10(8):613-5	Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients.		601486	10073	2	2004	Since the Italian population usually shows allelic frequencies similar to the other Caucasian populations, we suggest that the T54A allele might play a role in infertility only in Taiwanese or Asiatic individuals.	Control:63:controls;Case:95 infertile Italian patients:Italy										
121244	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Genetic Predisposition to Disease	3	3p24.3	DAZL	16603304	16622010		Tschanter, P.  et al. 2004	15520024	A260G and A386G			Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2		Germany	CDC GDPinfo	1618	Hs.131179			Human reproduction (Oxford, England). 2004 Dec;19(12):2771-6	No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population.		601486	10074	2	2004	 In a selected Caucasian population, the DAZL SNP 386 is completely absent and SNP 260 is not associated with spermatogenic failure and therefore does not represent a molecular marker for genetic diagnosis of male infertility.	Control:165 normozoospermic men;Case:202 oligo- or azoospermic patients										
121238	Y	azoospermia; oligospermia; infertility, male	REPRODUCTION	REP		Y	Yq11.223	DAZ1	23684894	23754545		Yang, Y.  et al. 2004	15476166				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4	Chinese		CDC GDPinfo	1617	Hs.522868			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):444-7	[Idiopathic male infertility and partial copy deletion of DAZ gene family]		400003	16297	2	2004	 The frequency of partial copy deletion of DAZ gene in Chinese idiopathic azoospermia or severe oligozoospermia patients is much higher than that of fertile controls, suggesting that the deletion of DAZ1/DAZ2 may be one of the important genetic etiological factors of spermatogenesis damage. The pattern and prevalence of DAZ partial copy deletion are similar to those of Caucasians populations, and detection of DAZ gene partial copy deletion by PCR-RFLP may be adopted as an additional clinical gene diagnostic measure after AZF microdeletion detection.	Case:197/166 Chinese patients with azoospermia (n=197) and with severe oligozoospermia (n=166);Control:210 fertile men										
121239		azoospermia; infertility, male	REPRODUCTION	REP	Infertility, Male	Y	Yq11.223	DAZ1	23684894	23754545		Writzl, K.  et al. 2004	15571102				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4	Slovenian and Bosnian	Bosnia-Herzegovina|Slovenia	CDC GDPinfo	1617	Hs.522868			Collegium antropologicum. 2004 ;28 Suppl 2:283-9	Copy number of DAZ genes in Slovenian and Bosnian general population.		400003	16298	2	2004	we demonstrate that DAZ genes are not only prone to deletions but also to duplication events.	Cohort 100 male samples from Slovenian and Bosnian general population 										
121240		spermatogenesis	DEVELOPMENTAL	DEV		Y	Yq11.223	DAZ1	23684894	23754545		Lepretre, A. C.  et al. 2005	16021857				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDPinfo	1617	Hs.522868			Journal of assisted reproduction and genetics. 2005 Apr;22(4):141-8	No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men.		400003	16299	2	2005	 The different DAZ-haplotypes are compatible with normal spermatogenesis.											
121235	Y	asthma	IMMUNE	IMM	Asthma	1	1q21-q22	DAP3	153925497	153974943		Hirota, T.  et al. 2004	15179560				Death associated protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033657.1			CDC GDPinfo	7818	Hs.516746			Journal of human genetics. 2004 ;49(7):370-5	Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma.		602074	16295	2	2004	These results indicated that specific variants of the DAP3 gene might be associated with the mechanisms responsible for adult BA and contribute to airway inflammation and remodeling.	Case childhood and adult asthma patients;Control:controls										
121236		pediatric lymphoma	CANCER	CAN	Lymphoma	9	9q34.1	DAPK1	89302477	89513369		Shiramizu B 2003	14595709				Death-associated protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004938.2			KGB	1612	Hs.380277			Medical and pediatric oncology. 2003 Dec;41(6):527-31	Epigenetic changes in the DAP-kinase CpG island in pediatric lymphoma.		600831	1720	1	2003	 In these pediatric lymphoid tumors, hypermethylation of the DAP-kinase promoter region with associated loss of DAP-kinase gene expression was associated with B-cell malignancies and thus may be important in the development and/or provide a prognostic tool in B- cell lymphomas.											
121237		oligozoospermia	REPRODUCTION	REP	Oligospermia	Y	Yq11.223	DAZ1	23684894	23754545		Fernandes, S.  et al. 2002	11870237				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDPinfo	1617	Hs.522868			Molecular human reproduction. 2002 Mar;8(3):286-98	High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.		400003	16296	2	2002	We therefore conclude that the deletion of the DAZ1/DAZ2 gene doublet in five out of our 63 oligozoospermic patients (8%) is responsible for the patients' reduced sperm numbers. It is most likely caused by intrachromosomal recombination events between two long repetitive sequence blocks (AZFc-Rep1) flanking the DAZ gene structures.	Control:107 DNA samples from men with proven fertility;Case:63 DNA samples from men with idiopathic:oligozoospermia										
121232		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Wang, X.  et al. 2004	15194506				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2	Chinese	China	CDC GDPinfo	267012	Hs.381382			Biochemical and biophysical research communications. 2004 Jul;319(4):1281-6	Association of G72/G30 with schizophrenia in the Chinese population.		607408	16292	2	2004	Our data provide further evidence that markers of the G72/G30 genes are associated with schizophrenia in a non-Caucasian population.	Case:537 Han Chinese schizophrenic cases;Control:538:controls										
121233		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Korostishevsky, M.  et al. 2005	16082701				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDPinfo	267012	Hs.381382			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):91-5	Transmission disequilibrium and haplotype analyses of the G72/G30 locus: Suggestive linkage toschizophrenia in Palestinian Arabs living in the North of Israel.		607408	16293	2	2005												
121234	Y	delusional disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Paranoid Disorders|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Schulze, T. G.  et al. 2005	16263850				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDPinfo	267012	Hs.381382			The American journal of psychiatry. 2005 Nov;162(11):2101-8	Genotype-Phenotype Studies in Bipolar Disorder Showing Association Between the DAOA/G30 Locus and Persecutory Delusions: A First Step Toward aMolecular Genetic Classification of Psychiatric Phenotypes.		607408	16294	2	2005	 These data suggest that bipolar affective disorder with persecutory delusions constitutes a distinct subgroup of bipolar affective disorder that overlaps with schizophrenia.											
121228	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12q24	DAO	107776836	107801676		Liu, X.  et al. 2004	15464270				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3	Chinese		CDC GDPinfo	1610	Hs.113227			Neuroscience letters. 2004 Oct;369(3):228-33	Association of DAAO with schizophrenia in the Chinese population.		124050	16291	2	2004	In the haplotype analysis based on the information of linkage-disequilibrium block across this gene locus, we demonstrated a highly significant association between schizophrenia and a DAAO haplotype (P = 2.0173 x 10(-21)), which therefore provides an independent statistical support for association of the DAAO gene with schizophrenia and indicates that the DAAO gene may play a significant role in the etiology of schizophrenia in the Han Chinese.	Control:536:controls;Case:547 schizophrenic cases:China										
121229		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12q24	DAO	107776836	107801676			16380905				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3			CDC GDPinfo	1610	Hs.113227			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		124050	21135	2	2005												
121230		schizophrenia; psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Childhood|Psychotic Disorders	13	13q33.2	DAOA	104916216	104941384		Addington, A. M.  et al. 2004	15121480				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDPinfo	267012	Hs.381382			Biological psychiatry. 2004 May;55(10):976-80	Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified.		607408	10070	2	2004	 These findings, although limited by potential referral bias, confirm and strengthen previous reports that G72/G30 is a susceptibility locus both for schizophrenia and bipolar disorder.	Cohort 98 schizophrenic probands 										
121224		asthma	IMMUNE	IMM	Asthma	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Dewar, J. C.  et al. 2003	12724032				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2		Great Britain	CDC GDPinfo	10800	Hs.201300			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		300201	27902	2	2003	Review article											
121225	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	13	13q14.12-q21.1	CYSLTR2	48178951	48181499	0.0016	Thompson MD 2003	14515063	The M202V mutation is located within the extracellular region of the fifth transmembrane spanning domain of CysLT2 receptor, a position that may alter ligand binding and effector signalling			Cysteinyl leukotriene receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020377.2	Tristan da Cunha	Atlantic Islands	KGB	57105	Hs.253706	independent of asthma		Pharmacogenetics. 2003 Oct;13(10):641-9	A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da Cunha.		605666	6787	1	2003												
121227	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Translocation, Genetic	X	Xq21.3	DACH2	85290280	85974261		Bione, S.  et al. 2004	15459172				Dachshund homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053281.2			CDC GDPinfo	117154	Hs.86603			Human reproduction (Oxford, England). 2004 Dec;19(12):2759-66	Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.			18962	2	2004	 Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype.	Cohort 200+ Italian premature ovarian failure patients 										
121220	Y	lipoproteins	METABOLIC	MET	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8q21.3	CYP7B1	65671245	65873902		Jakobsson, J.  et al. 2004	15007371			promoter	Cytochrome P450, family 7, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004820.2			CDC GDPinfo	9420	Hs.491869			The pharmacogenomics journal. 2004 ;4(4):245-50	A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians.		603711	10068	2	2004	This polymorphism is associated with phenotypic differences in an expression system and a widely different allele frequency in two ethnic populations, with great differences in the incidence of prostate cancer.	Cohort 150/153 Swedish men (n=150) and Koreans (n=153) 										
121221	N	Asthma	IMMUNE	IMM	Asthma	X	Xq13.2-21.1	CYSLT1	77414785	77469743	n	Unoki M 2000	10830912	T927C			cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639		Japan	KCB	10800	Hs.201300			Human genetics. 2000 Apr;106(4):440-6			300201	6676	1	2000												
121222		asthma	IMMUNE	IMM	Asthma	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Lima, J. J.  et al. 2005	16293801				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDPinfo	10800	Hs.201300			American journal of respiratory and critical care medicine. 2006 Feb;173(4):379-85	Influence of Leukotriene Pathway Polymorphisms on Response to Montelukast in Asthma.		300201	24298	2	2005												
121223	N	asthma	IMMUNE	IMM	Asthma	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Choi, J. H.  et al. 2004	14749922				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2	Korean	Korea	CDC GDPinfo	10800	Hs.201300			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with ahaplotype of 5-lipoxygenase.		300201	24299	2	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
121217	Y	cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	8	8q11-q12	CYP7A1	59565291	59575275		Kajinami, K.  et al. 2004	15262185				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Atherosclerosis. 2004 Aug;175(2):287-93	Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin.		118455	24296	2	2004	We conclude that  the ABCG8 H19 and CYP7A1 C-204 alleles appear to interact in a dose-dependent manner on atorvastatin response.	Cohort 337 hypercholesterolemic patients treated with atorvastatin 10mg 	atorvastatin									
121218	Y	cholelithiasis	METABOLIC	MET	Gallstones	8	8q11-q12	CYP7A1	59565291	59575275		Jiang, Z. Y.  et al. 2004	15133863				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			World journal of gastroenterology. 2004 May;10(10):1508-12	Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.		118455	24297	2	2004	 With an association analysis, it was determined that A allele of CYP7A gene and X+ allele of APOB gene might be considered as risk genes for GSD. These alleles are related with differences of serum lipids among subjects. Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors. But the mechanism for these two alleles responsible for GSD requires further investigations.	Case:105 patients with gallbladder stone disease;Control:274 control subjects										
121219		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Han, Z.  et al. 2002	12116231				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2		Micronesia	CDC GDPinfo	1581	Hs.1644			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		118455	27701	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
121214	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Hofman, M.  et al. 2005	15707388				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Clin Sci (Lond).. 2005 Jun;108(6):539-45	Genetic variation in the rate-limiting enzyme in cholesterol catabolism (cholesterol 7alpha-hydroxylase) influences the progression of atherosclerosis and risk of new clinical events.		118455	16290	2	2005	In conclusion, we present evidence that the CC variant of the A-278C polymorphism in the rate-limiting enzyme in the catabolism of cholesterol, CYP7A1, increases the progression of atherosclerosis and possibly the risk of a new clinical event.	Cohort 715 male patients with coronary atherosclerosis participating in the REGRESS-study 										
121215	Y	cholesterol, LDL; cholesterol, total	METABOLIC	MET		8	8q11-q12	CYP7A1	59565291	59575275		Hubacek, J. A.  et al. 2003	12810154				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2	Czech		CDC GDPinfo	1581	Hs.1644			Clinical biochemistry. 2003 Jun;36(4):263-7	Polymorphisms in CYP-7A1, not APOE, influence the change in plasma lipids in response to population dietary change in an 8 year follow-up; results from the Czech MONICA study.		118455	21133	2	2003	 Variation in the CYP-7A1 gene may play an important role in an individual's sensitivity to dietary composition.	Cohort 131 males for whom dietary composition markedly changed and total cholesterol decreased (from 6.21 +/- 1.31 mmol/L in 1988 - 5.43 +/- 1.06 mmol/L in 1996) over an 8 yr follow-up study 										
121216	Y	hypercholesterolemia; cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	8	8q11-q12	CYP7A1	59565291	59575275		Kajinami, K.  et al. 2005	15910869				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Atherosclerosis. 2005 Jun;180(2):407-15	A promoter polymorphism in cholesterol 7alpha-hydroxylase interacts with apolipoprotein E genotype in the LDL-lowering response to atorvastatin.		118455	21134	2	2005	We concluded that the CYP7A1 A-204C promoter variant was associated with poor response to atorvastatin, which were additively enhanced by common variants in another locus, APOE.	Cohort 324 hypercholesterolemic patients treated with atorvastatin 	atorvastatin									
121211	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Hagiwara, T.  et al. 2005	15805302				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Cancer research. 2005 Apr;65(7):2979-82	Genetic polymorphism in cytochrome P450 7A1 and risk of colorectal cancer: the Fukuoka ColorectalCancer Study.		118455	10066	2	2005	A decreased risk of proximal colon cancer in relation to the CC genotype of CYP7A1 A-203C, which probably renders less activity of the enzyme converting cholesterol to bile acids, is new evidence for the role of bile acids in colorectal carcinogenesis.	Case:685 colorectal cancer cases Fukuoka area, Japan;Control:778 randomly selected controls										
121212		cholesterol, LDL; bile acid synthesis	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms	8	8q11-q12	CYP7A1	59565291	59575275		Abrahamsson, A.  et al. 2005	16115473				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Atherosclerosis. 2005 Sep;182(1):37-45	Common polymorphisms in the CYP7A1 gene do not contribute to variation in rates of bile acid synthesis and plasma LDL cholesterol concentration.		118455	10067	2	2005												
121213		lipoproteins	METABOLIC	MET		8	8q11-q12	CYP7A1	59565291	59575275		Hegele, R. A.  et al. 2001	11257258			promoter	Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2	Canadian		CDC GDPinfo	1581	Hs.1644			Atherosclerosis. 2001 Feb;154(3):579-87	Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations.		118455	16289	2	2001	Our findings suggest that the common -278A promoter variant of CYP7 was inconsistently associated with variation in plasma LDL- and HDL-cholesterol in samples from three independent populations. The inconsistencies could be due to differences in genetic background or to unspecified environmental or genetic factors.	Cohort 190 Keewatin Inuit Cohort 325 Ontario Oji-Cree Cohort 594 Alberta Hutterites 										
121208	Y	hypercholesterolemia; hyperlipidemia; hypertriglyceridemia; dysbetalipoproteinemia	METABOLIC	MET	Hypertriglyceridemia	8	8q11-q12	CYP7A1	59565291	59575275		Hofman, M. K.  et al. 2004	15241483	A-278C		promoter	Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			European journal of human genetics. 2004 Nov;12(11):935-41	Modulating effect of the A-278C promoter polymorphism in the cholesterol 7alpha-hydroxylase gene on serum lipid levels in normolipidaemic and hypertriglyceridaemic individuals.		118455	10063	2	2004	Our results show that the A-278C polymorphism in the CYP7A1 gene has an effect on triglyceride levels in normolipidaemic males and on cholesterol levels in patients with hypertriglyceridaemia.	Cohort hypertriglyceridaemia (HTG), combined hyperlipidaemia (CH), familial dysbetalipoproteinaemia (FD) and familial hypercholesterolaemia (FH) subjects 										
121209	Y	lipids	METABOLIC	MET		8	8q11-q12	CYP7A1	59565291	59575275		Hofman, M. K.  et al. 2004	15333704	A-278C			Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			The Journal of nutrition. 2004 Sep;134(9):2200-4	CYP7A1 A-278C Polymorphism Affects the Response of Plasma Lipids after Dietary Cholesterol or Cafestol Interventions in Humans		118455	10064	2	2004	No effects of the polymorphism were found in the saturated and trans fat interventions. In conclusion, the CYP7A1 polymorphism has a small but significant effect on the increase in plasma HDL cholesterol and plasma total cholesterol after an increased intake of dietary cholesterol and cafestol, respectively.	Cohort 496 normolipidemic subjects 	cafestol cholesterol fat									
121210		cholesterol; cholesterol, HDL; atherosclerosis, coronary; cholesterol, LDL	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Zhou, B.  et al. 2004	15640003				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Yi chuan. 2004 May;26(3):283-6	[Association of 7alpha-hydroxylase gene polymorphism with levels of plasma lipids.]		118455	10065	2	2004	The results indicating that no direct association was found between the A-204C polymorphism and CHD,but there was significant correlation between this polymorphism and the levels of TC ,and there was significant correlation in CHD patient group between this polymorphism and levels of HDL-C and LDL-C.	Control:101:controls;Case:183 coronary heart disease patients										
121205	N	Asthma	IMMUNE	IMM	Asthma	19	19p13.2	CYP4F3	15612706	15632570	n	Unoki M 2000	10830912	A1073G			Cytochrome P450, family 4, subfamily F, polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000896.1	Japanese	Japan	KCB	4051	Hs.106242			Human genetics. 2000 Apr;106(4):440-6			601270	4397	1	2000												
121206	Y	plasma lipoproteins	METABOLIC	MET		8	8q11-q12	CYP7	59565290	59575262		Hegele RA et al. 2001	11257258			promoter	cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M93133	Canadian		KGB	1581	Hs.1644			Atherosclerosis. 2001 Feb;154(3):579-87	Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations.		118455	1669	1	2001												
121207	N	cholesterol	METABOLIC	MET	Hypercholesterolemia	8	8q11-q12	CYP7A1	59565291	59575275		Hubacek, J. A.  et al. 2003	14515446				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDPinfo	1581	Hs.1644			Cas Lek Cesk. 2003 ;142(7):423-6	[Polymorphism in the regulatory part of the cholesterol 7 alpha hydroxylase gene in children with high and low levels of cholesterol]		118455	10062	2	2003	 The A-204-->C polymorphism in the gene for CYP-7A1 is not the major determinant of plasma lipid levels in childhood. Its impact is expressed only on high cholesterol background.	Case:82 children in high cholesterolemic group from 2000 children tested;Control:86 children in low cholesterolemic group from 2000 children tested										
121202		hypertension	CARDIOVASCULAR	CARD		1	1p34-p12	CYP4B1	47037328	47057672		Hiratsuka, M.  et al. 2004	15499177				Cytochrome P450, family 4, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000779.2	French		CDC GDPinfo	1580	Hs.436317			Drug metabolism and pharmacokinetics. 2004 Apr;19(2):114-9	Human CYP4B1 gene in the japanese population analyzed by denaturing HPLC		124075	16288	2	2004	The allele frequencies among Japanese relative to those in French Caucasians for CYP4B1(*)1 (0.490 vs. 0.724) and CYP4B1(*)2 (0.328 vs. 0.147) significantly differed. Our results suggest that high throughput DHPLC can rapidly detect pharmacologically important variants in CYP genes.	Cohort 192 Japanese individuals 										
121203	N	Asthma	IMMUNE	IMM	Asthma	19	19p13.2	CYP4F3	15612706	15632570	n	Unoki M 2000	10830912	C806A			Cytochrome P450, family 4, subfamily F, polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000896.1	Japanese	Japan	KCB	4051	Hs.106242			Human genetics. 2000 Apr;106(4):440-6			601270	4395	1	2000												
121204	N	Asthma	IMMUNE	IMM	Asthma	19	19p13.2	CYP4F3	15612706	15632570	n	Unoki M 2000	10830912	G1043A			Cytochrome P450, family 4, subfamily F, polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000896.1	Japanese	Japan	KCB	4051	Hs.106242			Human genetics. 2000 Apr;106(4):440-6			601270	4396	1	2000												
121198		hypertension; left ventricular function	CARDIOVASCULAR	CARD	Hypertension	1	1p33	CYP4A11	47167432	47180004		Mayer, B.  et al. 2005	16144986				Cytochrome P450, family 4, subfamily A, polypeptide 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000778.2			CDC GDPinfo	1579	Hs.1645			Hypertension. 2005 Oct;46(4):766-71	Association of the T8590C polymorphism of CYP4A11 with hypertension in the MONICA Augsburg echocardiographic substudy.		601310	10060	2	2005												
121199	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p33	CYP4A11	47167432	47180004		Gainer, J. V.  et al. 2004	15611369				Cytochrome P450, family 4, subfamily A, polypeptide 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000778.2		United States|Tennessee	CDC GDPinfo	1579	Hs.1645			Circulation. 2005 Jan;111(1):63-9	Functional Variant of CYP4A11 20-Hydroxyeicosatetraenoic Acid Synthase Is Associated With Essential Hypertension		601310	16287	2	2004	 We identified a variant of the human CYP4A11 (T8590C) that encodes for a monooxygenase with reduced 20-HETE synthase activity. The association of the T8590C variant with hypertension supports its role as a polygenic determinant of blood pressure control in humans, and results obtained from the large population database suggest that the relevance of the variant may vary according to hypertension comorbidity.	Cohort 512 Caucasians Tennessee 										
121200		myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy|Arrhythmias, Cardiac|Arrhythmias, Cardiac|Genetic Predisposition to Disease	19	19q13.3	DMPK	50964815	50977655 		Hardin, B. A.  et al. 2003	14510658				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			Annals of noninvasive electrocardiology. 2003 Jul;8(3):227-32	Heart rate variability declines with increasing age and CTG repeat length in patients with myotonic dystrophy type 1.		605377	16336	2	2003	 In DM1 patients a decline in HRV is observed as the patient ages and CTG repeat length increases.	Cohort 289 patients in whom the diagnosis of myotonic dystrophy type 1 										
121195	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Chalmers, K. A.  et al. 2004	15106838				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Neuroreport. 2004 Jan;15(1):95-8	APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease		604087	24294	2	2004	Here we report that polymorphisms within the APOE promoter, ACE1 and CYP46 gene are not risk factors for AD and are not associated with parenchymal or vascular accumulation of Abeta.	Control:58:controls;Case:86 neuropathologically confirmed cases of Alzheimer's:disease										
121196		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Kabbara, A.  et al. 2004	15172102				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1	French	France	CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2004 Jun;363(2):139-43	Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.		604087	24295	2	2004	We were unable to detect any polymorphisms in the coding and exon/intron sequences of the APOF. Finally, we excluded APOM as a genetic determinant of AD in our large French case control population.	Case French Alzheimer's disease patients;Control:controls										
121197		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Shibata, N.  et al. 2005	16157450				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1		Caribbean Region|Ontario|Florida	CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2006 Jan;391(3):142-6	Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.		604087	25953	2	2005												
121192	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Johansson, A.  et al. 2004	15034781				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1		Europe	CDC GDPinfo	10858	Hs.25121			Human genetics. 2004 May;114(6):581-7	Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease		604087	21130	2	2004	Our results provide an important independent replication of previous findings, supporting the existence of CYP46A1 sequence variants that contribute to variability in beta-amyloid metabolism.	Case cases of Alzheimer's disease from three independent northern European case-control series;Control controls from three independent northern European case-control series										
121193	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Combarros, O.  et al. 2004	15286456				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):257-60	Genetic association of CYP46 and risk for Alzheimer's disease.		604087	21131	2	2004	Our results indicate that the intron 2 CYP46 C/C genotype may predispose to AD, and this association is independent of the apolipoprotein E genotype.	Control:315:controls;Case:321 sporadic Alzheimer's disease patients										
121194		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Papassotiropoulos, A.  et al. 2005	16013913				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1		Greece|Switzerland	CDC GDPinfo	10858	Hs.25121			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		604087	21132	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
121188	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Borroni, B.  et al. 2004	15165699				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Neurobiology of aging. 2004 Jul;25(6):747-51	Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from riskfactors to disease modulators		604087	21126	2	2004	These findings provide direct evidence that CYP46 and ApoE polymorphisms synergically increase the risk for AD development, and influence on the rate of cognitive decline.	Control:134 age- and gender-matched controls;Case:157 Alzheimer's disease patients										
121189		cholesterol	METABOLIC	MET	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Vega, G. L.  et al. 2004	15975088				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Current Alzheimer research. 2004 Feb;1(1):71-7	The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins.		604087	21127	2	2004												
121191		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Juhasz, A.  et al. 2005	16258842				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1		Hungary	CDC GDPinfo	10858	Hs.25121			Neurochemical research. 2005 Aug;30(8):943-8	CYP46 T/C Polymorphism is not Associated with Alzheimer's Dementia in a Population from Hungary.		604087	21129	2	2005												
121185	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Wang, B.  et al. 2004	15450677			intron	Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1	Chinese		CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2004 Oct;369(2):104-7	Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese		604087	10056	2	2004	Our data reveal that the polymorphism of CYP46 intron 2 is implicated in the susceptibility to LOAD and a strong synergistic interaction between CYP46 TT homozoygots and APOE epsilon4 carrier status on the risk of LOAD.	Control:113 healthy controls;Case:99 Chinese sporadic late-onset Alzheimer's disease:patients										
121186	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Desai, P.  et al. 2002	12123847				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2002 Aug;328(1):12-Sep	Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease.		604087	16281	2	2002	Our data indicate that the Intron 2 polymorphism of CYP46 does not affect the risk of AD in our sample.	Control:401/61 American Caucasian (n=401) and African American:(n=61) controls;Case:434/54 American Caucasian (n=434) and African American (n=54) Alzheimer's disease cases										
121187		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Golanska, E.  et al. 2005	15936520				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2005 Jul;383(2-Jan):105-8	CYP46: a risk factor for Alzheimer's disease or acoincidence?		604087	16285	2	2005	We discovered a new single nucleotide substitution in CYP46 intron 2, but found no difference in particular genotype or allele frequencies between AD patients and controls. However, the GG genotype of the known rs754203 polymorphic site might be a risk factor for AD, especially in APOE varepsilon4 carriers. Interestingly, in AD patients the rs754203 G allele was more frequent in males than in females. However, considering the extreme divergence of results obtained by different authors, a clear connection between the CYP46 gene and AD is questionable.	Control:173 healthy individuals;Case:215 Polish Alzheimer's disease cases										
121182	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Kolsch, H.  et al. 2002	12232784				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Molecular psychiatry. 2002 ;7(8):899-902	Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease.		604087	10051	2	2002	Our results indicate that the CYP46 gene locus may predispose to AD by increasing the 24S-hydroxycholesterol/cholesterol ratio in the brain.	Case:114 Alzheimer's disease patients;Control:144 healthy controls										
121183	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Papassotiropoulos, A.  et al. 2003	12533085			intron	Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Archives of neurology. 2003 Jan;60(1):29-35	Increased Brain beta-Amyloid Load, Phosphorylated Tau, and Risk of Alzheimer Disease Associated With an Intronic CYP46 Polymorphism		604087	10052	2	2003	 CYP46 influences brain beta-amyloid load, cerebrospinal fluid levels of beta-amyloid peptides and phosphorylated tau, and the genetic risk of late-onset sporadic AD.	Case:201 patients with alzheimer's disease;Control:248 control subjects										
121184	N	Alzheimer's disease; brain lesions or calcifications	NEUROLOGICAL	NEUR	Alzheimer Disease|Postmortem Changes	14	14q32.1	CYP46A1	99220507	99263391		Ingelsson, M.  et al. 2004	15331159			intron	Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDPinfo	10858	Hs.25121			Neuroscience letters. 2004 Sep;367(2):228-31	Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease.		604087	10055	2	2004	Despite growing evidence implicating cholesterol metabolism in AD risk and Abeta generation, our data does not support a robust genetic relationship between the CYP46 intron 2 polymorphism and AD risk or neuropathology.	Control:105 non-demented controls;Case:178 Alzheimer's disease patients										
121178	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A43	99083752	99170757		Zeigler-Johnson, C.  et al. 2004	15548719				Cytochrome P450, family 3, subfamily A, polypeptide 43	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022820.3			CDC GDPinfo	64816	Hs.306220			Cancer research. 2004 Nov;64(22):8461-7	CYP3A4, CYP3A5, and CYP3A43 genotypes and haplotypes in the etiology and severity of prostate cancer.		606534	21101	2	2004	The observation that CYP3A4 and CYP3A43 were associated with prostate cancer, are not in linkage equilibrium, and are both involved in testosterone metabolism, suggest that both CYP3A4*1B and CYP3A43*3 may influence the probability of having prostate cancer and disease severity.	Control:396:controls;Case:622 incident prostate cancer cases										
121179	Y	enzyme activity	METABOLIC	MET		7	7q21-q22.1	CYP3A7	99140595	99170757		Smit, P.  et al. 2005	15985487				Cytochrome P450, family 3, subfamily A, polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000765.2			CDC GDPinfo	1551	Hs.111944			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5313-6	A common polymorphism in the CYP3A7 gene is associated with a nearly 50% reduction in serum dehydroepiandrosterone sulfate levels.		605340	10050	2	2005	 The CYP3A7*1C polymorphism causes the persistence of enzymatic activity of CYP3A7 during adult life, resulting in lower circulating DHEAS and estrone levels.											
121181	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46	99220507	99263391		Papassotiropoulos A et al. 2003	12533085			intron	cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209749			KGB	10858	Hs.25121			Archives of neurology. 2003 Jan;60(1):29-35	Increased brain beta-amyloid load phosphorylated tau and risk of Alzheimer disease associated with an intronic CYP46 polymorphism.		604087	6678	1	2003	 CYP46 influences brain beta-amyloid load, cerebrospinal fluid levels of beta-amyloid peptides and phosphorylated tau, and the genetic risk of late-onset sporadic AD.											
121175		hypertension	CARDIOVASCULAR	CARD		19	19q13.1	CYP2S1	46390954	46405284		Saarikoski, S. T.  et al. 2004	15450424				Cytochrome P450, family 2, subfamily S, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030622.6	Caucasian		CDC GDPinfo	29785	Hs.98370			Mutation research. 2004 Oct;554(2-Jan):267-77	Identification of genetic polymorphisms of CYP2S1 in a Finnish Caucasian population			9994	2	2004	The respective allelic variants, CYP2S1*2 ([10347C > T]) and CYP2S1*3 (13106C > T; 13255A > G]), occurred in our study population at frequencies of 0.50 and 3.75%, respectively. The most common of the variant alleles was CYP2S1*1H (23.8%), harbouring a 13255A > G substitution located in the 3'UTR.	Cohort 100 male Finnish Caucasians Finland 										
121176		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A43	99083752	99170757		Cauffiez, C.  et al. 2004	14695544				Cytochrome P450, family 3, subfamily A, polypeptide 43	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022820.3			CDC GDPinfo	64816	Hs.306220			Human mutation. 2004 Jan;23(1):101	First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: Identificationof a loss-of-function variant		606534	10034	2	2004	Thirty-four samples (4.83%) were found to be heterozygous and one homozygous (0.14%) for the nucleotide deletion, which suggests that, although the potential significance of this polymorphism remains to be further evaluated, some individuals are deficient for CYP3A43 activity.	Cohort 352 French individuals 										
121177	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A43	99083752	99170757		Stone, A.  et al. 2005	15894682				Cytochrome P450, family 3, subfamily A, polypeptide 43	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022820.3	African American	Arkansas	CDC GDPinfo	64816	Hs.306220			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1257-61	CYP3A43 Pro(340)Ala polymorphism and prostate cancer risk in African Americans and Caucasians.		606534	10035	2	2005	Our results suggest that the CYP3A43-Pro(340)Ala polymorphism contributes to prostate cancer risk.	Case:490 incident prostate cancer cases (124 African Americans and 358 Caucasians);Control:494 controls (167 African Americans and 319 Caucasians)										
121172		diabetes, type 2; hypertension; diabetes, type 1	UNKNOWN	UNK		1	1p31.3-p31.2	CYP2J2	60131567	60165011		Lee, S. S.  et al. 2005	15861034				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2			CDC GDPinfo	1573	Hs.152096			Pharmacogenetics and genomics. 2005 Feb;15(2):105-13	Identification and functional characterization of novel CYP2J2 variants: G312R variant causes loss ofenzyme catalytic activity.		601258	16221	2	2005												
121173	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p31.3-p31.2	CYP2J2	60131567	60165011		King, L. M.  et al. 2005	15864120				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Caucasian		CDC GDPinfo	1573	Hs.152096			Pharmacogenetics and genomics. 2005 Jan;15(1):13-Jul	Single nucleotide polymorphisms in the CYP2J2 and CYP2C8 genes and the risk of hypertension.		601258	21078	2	2005	This study provides evidence for an association between CYP2J2*7 genotype and hypertension in Caucasian males and Caucasians without a family history of hypertension, but suggests no association between CYP2C8*3 genotype and hypertension. Confirmation of these findings in additional populations is warranted.	Control normotensive individuals;Case individuals with hypertension:Tennessee	family history									
121174		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Dreisbach, A. W.  et al. 2005	16202848				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	African Americans		CDC GDPinfo	1573	Hs.152096			American journal of hypertension. 2005 Oct;18(10):1276-81	The Prevalence of CYP2C8, 2C9, 2J2, and soluble epoxide hydrolase polymorphisms in African Americans with hypertension.		601258	24274	2	2005	 These results suggest that these epoxygenase-related SNP are not associated with increased risk of hypertension in the African American population. There was significant linkage disequilibrium between CYP2C8*3 and CYP2C9*2 alleles that was not associated with hypertension.											
121169	N	diabetes, type 2; hypertension; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Pucci, L.  et al. 2003	14575523				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Caucasian		CDC GDPinfo	1573	Hs.152096			American journal of pharmacogenomics. 2003 ;3(5):355-8	Cytochrome P450 2J2 polymorphism in healthy Caucasians and those with diabetes mellitus.		601258	9989	2	2003	 The CYP2J2*6 allele is rare in the Caucasian population, and no association is inferred between this allelic variant and diabetic complications.	Case patients with type 1 or type 2 diabetes;Control sample from a Caucasian population										
121170	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Spiecker, M.  et al. 2004	15466638				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2		Germany	CDC GDPinfo	1573	Hs.152096			Circulation. 2004 Oct;110(15):2132-6	Risk of Coronary Artery Disease Associated With Polymorphism of the Cytochrome P450 Epoxygenase CYP2J2		601258	9990	2	2004	 A functionally relevant polymorphism of the CYP2J2 gene is independently associated with an increased risk of coronary artery disease.	Control:255 control subjects;Case:289 patients with coronary artery disease										
121171		attention deficit disorder; conduct disorder; oppositional defiant disorder	PSYCH	PSY		1	1p31.3-p31.2	CYP2J2	60131567	60165011		Wang, H.  et al. 2005	16182271				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Chinese		CDC GDPinfo	1573	Hs.152096			Clinica chimica acta; international journal of clinical chemistry. 2006 Mar;365(2-Jan):125-8	CYP2J2*7 single nucleotide polymorphism in a Chinese population.		601258	9992	2	2005	 The CYP2J2*7 variant represents a relatively rare polymorphism in Chinese, with the allele frequency being comparable to that of Korean, but significantly lower than those of African and White groups. This data may be informative to design population-based association study of genetic predisposition to CYP2J2 related diseases and treatments.											
121166		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Kajander, O. A.  et al. 2001	11696658				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		124040	27699	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
121167		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		124040	28140	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
121168		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	10	10q24.3-qter	CYP2E1	135190856	135224714		Watanabe, I.  et al. 2003	12732844				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese	Japan	CDC GDPinfo	1571	Hs.12907			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		124040	28218	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
121163		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Sepehr, A.  et al. 2004	15327835				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	1571	Hs.12907			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		124040	27405	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
121164		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Esfandiary, H.  et al. 2005	15774926				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		124040	27406	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
121165		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		124040	27407	2	2002	Review article		smoking (tobacco)									
121160	Y	liver cancer; liver disease	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Silvestri, L.  et al. 2003	12569554				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			International journal of cancer. Journal international du cancer. 2003 Apr;104(3):310-7	CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer		124040	25940	2	2003	Polymorphic variants of CYP genes may contribute to the progression of liver disease and HCC risk in HCV-infected subjects.	Case:87/92/91 chronic hepatitis (n=87), cirrhosis (n=92) and hepatocellular carcinoma (n=91) cases;Control:90/99 asymptomatic carriers (n=90) of chronic hepatitis and blood donors (n=99)	hepatitis C									
121161		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		De Jong, M. M.  et al. 2002	12433710				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		124040	26835	2	2002	Review article											
121162		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Sturgis, E. M.  et al. 2002	11981277				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		124040	26836	2	2002	Review article											
121157		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Xing, D.  et al. 2003	12883749				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	CDC GDPinfo	1571	Hs.12907			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		124040	25937	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
121158		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Wang, X.  et al. 2001	11520401				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		China	CDC GDPinfo	1571	Hs.12907			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		124040	25938	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
121159		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	10	10q24.3-qter	CYP2E1	135190856	135224714		Krajinovic, M.  et al. 2002	11895912				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		124040	25939	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
121154		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	10	10q24.3-qter	CYP2E1	135190856	135224714		Konishi, T.  et al. 2004	15318112				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Mexican	Los Angeles	CDC GDPinfo	1571	Hs.12907			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		124040	25934	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
121155		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	10	10q24.3-qter	CYP2E1	135190856	135224714		Kim, M. S.  et al. 2004	15220553				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		124040	25935	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
121156		alcohol abuse	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism	10	10q24.3-qter	CYP2E1	135190856	135224714		Kee, J. Y.  et al. 2003	12824748				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Taehan Kan Hakhoe chi. 2003 Jun;9(2):89-97	[Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors]		124040	25936	2	2003	 These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.	Case:12/30 heavy drinkers (n=12) and alcoholic liver cirrhosis:patients (n=30);Control:42 healthy controls										
121152		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Lee, H. C.  et al. 2001	11748356				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Korean	Korea	CDC GDPinfo	1571	Hs.12907			Journal of Korean medical science. 2001 Dec;16(6):745-50	Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population.		124040	25932	2	2001	The prevalences of heterozygous ALDH2*1/*2 plus homozygous ALDH2*2/*2 in patients with alcoholic cirrhosis (7.1%) and alcoholics without evidence of liver disease (3.8%) were significantly lower than that in nondrinkers (45.3%). The c2 allele frequencies of the CYP2E1 in alcoholic cirrhosis, alcoholics without evidence of liver disease, and nondrinkers were 0.21, 0.20, and 0.20, respectively. Allele frequencies of ADH2*2 in the three groups were 0.78, 0.74, and 0.77 and those of ADH3*1 were 0.94, 0.98, and 0.95. Therefore, we confirmed the observation that the ALDH2*2 gene protects against the development of alcoholism. However, the development of cirrhosis in Korean alcoholic patients was not associated with polymorphisms of ethanol-metabolizing enzymes.	Control:52 alcoholics without liver disease;Case:56 male alcoholic cirrhosis patients:Korea;Control:64 non drinkers										
121153		cirrhosis; pancreatitis; esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Alcoholism	10	10q24.3-qter	CYP2E1	135190856	135224714		Chao YC  et al. 2000	11051375				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	CDC GDPinfo	1571	Hs.12907			The American journal of gastroenterology. 2000 Oct;95(10):2958-64	Chinese alcoholic patients with esophageal cancer are genetically different from alcoholics with acute pancreatitis and liver cirrhosis.		124040	25933	2	2000	 The allele frequency of ADH2*1 and ALDH2*1 are different among subpopulations of alcoholics, suggesting that alcoholic patients with different specific types of organ damage are genetically different. The Chinese alcoholic patients with the ADH2*1 and ALDH2*2 allele are more susceptible to esophageal Ca.	Control:241 nonalcoholic patients;Case:281 alcoholics (59 with esophageal CA, 87 with acute pancreatitis, 116 with liver cirrhosis, 19 with cirrhosis and pancreatitis										
121149		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	10	10q24.3-qter	CYP2E1	135190856	135224714		Matthias, C.  et al. 2002	12063626				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		124040	24271	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
121150		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Matthias, C.  et al. 2003	12548461				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		124040	24272	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
121146	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	10	10q24.3-qter	CYP2E1	135190856	135224714		Kimura, Y.  et al. 2005	15690482				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis.		124040	24268	2	2005	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
121147		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Garte, S.  et al. 2001	11751440				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		124040	24269	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
121148		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Li, W. Y.  et al. 2004	15769360				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1042-5	[The relationship between genetic polymorphism of metabolizing enzymes and the genetic susceptibility to lung cancer]		124040	24270	2	2004	 Smoking and GSTM1-null genotype seemed to be the risk factors of lung cancer. Those who carrying GSTM1-null genotype and smoking cigarettes were prone to suffer from lung cancer to become the high-risk population of the disease.	Control:200:controls;Case:217 lung cancer cases	smoking (tobacco)									
121143		stomach cancer	CANCER	CAN	Stomach Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Nan, H. M.  et al. 2005	15991278				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		124040	24265	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
121144		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Murata, M.  et al. 2001	11275366				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese	Japan	CDC GDPinfo	1571	Hs.12907			Cancer letters. 2001 Apr;165(2):171-7	Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, CYP2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population		124040	24266	2	2001	This study suggests that the CYP1A1 polymorphism and its combination with GSTM1 may be associated with PCa susceptibility in the Japanese population.	Case not specified in abstract;Control not specified in abstract										
121140		styrene toxicity	UNKNOWN	UNK		10	10q24.3-qter	CYP2E1	135190856	135224714		Ma, M.  et al. 2005	16125881				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		124040	21076	2	2005			smoking (tobacco)									
121141		systemic sclerosis	UNKNOWN	UNK	Scleroderma, Systemic|Disease Susceptibility	10	10q24.3-qter	CYP2E1	135190856	135224714		Povey, A.  et al. 2001	11263781				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Arthritis and rheumatism. 2001 Mar;44(3):662-5	Cytochrome P2 polymorphisms and susceptibility to scleroderma following exposure to organic solvents		124040	21077	2	2001	 Our results suggest that alleles at CYP loci may be involved in increasing susceptibility to scleroderma among subjects who have been exposed to organic solvents.	Cohort 106 population controls ;Case:7 patients who had developed scleroderma after exposure to solvents;Control:71 patients with scleroderma without solvent exposure	organic solvents									
121142		hepatitis, acute alcoholic	OTHER	OTH	Hepatitis, Alcoholic|Acute Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714			16324524				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Rev Clin Esp. 2005 Nov;205(11):528-32	[Genetic susceptibility to the develpment of acute alcoholic hepatitis: role of genetic mutations indehydrogenae alcohol, aldehyde dehydrogenase and cytochrome P450 2E1.]		124040	24264	2	2005	 The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.											
121137		1-hydroxypyrene, urinary; 2-naphtol	METABOLIC	MET		10	10q24.3-qter	CYP2E1	135190856	135224714		Kim, Y. D.  et al. 2003	14646291				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Journal of occupational health. 2003 May;45(3):160-7	Effects of genetic polymorphisms in metabolic enzymes on the relationships between 8-hydroxydeoxyguanosine levels in human leukocytes and urinary 1-hydroxypyrene and 2-naphthol concentrations.		124040	21073	2	2003	In conclusion, there is a significant correlation between the 8-OHdG level in leukocytes and the urinary 1-OHP concentration in the population not occupationally exposed to PAHs. This relationship is affected by genetic polymorphisms in PAH metabolic enzymes.	Cohort 105 healthy Korean males without occupational exposure to polycyclic aromatic hydrocarbons 	smoking (tobacco)									
121138		schizophrenia	PSYCH	PSY		10	10q24.3-qter	CYP2E1	135190856	135224714		Mendoza-Cantu, A.  et al. 2004	14695651				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Mexican		CDC GDPinfo	1571	Hs.12907			Cell biochemistry and function. 2004 Jan-Feb;22(1):29-34	Genotype and allele frequencies of polymorphic cytochromes P450 CYP1A2 and CYP2E1 in Mexicans		124040	21074	2	2004	These frequencies are higher than those previously reported for other human populations.	Cohort 159 Mexicans 										
121139		gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Tsukino, H.  et al. 2002	12115524				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese		CDC GDPinfo	1571	Hs.12907			International journal of cancer. Journal international du cancer. 2002 Aug;100(4):425-8	Effects of cytochrome P450 (CYP) 2A6 gene deletion and CYP2E1 genotypes on gastric adenocarcinoma.		124040	21075	2	2002	These results suggest that the CTY2A6 deletion is associated with gastric adenocarcinoma among Japanese populations.	Case:120 Japanese patients with gastric adenocarcinoma;Control:158 healthy controls	smoking (tobacco)									
121135		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Mathonnet, G.  et al. 2003	14510941				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		Canada	CDC GDPinfo	1571	Hs.12907			British journal of haematology. 2003 Oct;123(1):45-8	Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.		124040	21071	2	2003	This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.	Case:287 French-Canadian children with acut lymphoblastic:leukemia;Control:320 French-Canadian healthy controls										
121136		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	10	10q24.3-qter	CYP2E1	135190856	135224714		Li, D.  et al. 2002	11719088				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		124040	21072	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
121131		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Liang, G. Y.  et al. 2004	15640066				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	CDC GDPinfo	1571	Hs.12907			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		124040	21067	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
121132		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Ivashchenko, T. E.  et al. 2003	12760253				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		124040	21068	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
121133		cytogenetic studies	OTHER	OTH		10	10q24.3-qter	CYP2E1	135190856	135224714		Cheng, J.  et al. 2005	15938845				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		124040	21069	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
121128		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Leng, S. G.  et al. 2004	15355699				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		124040	21064	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
121129		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Leng, S. G.  et al. 2004	15061915				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		124040	21065	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
121130		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Soucek, P.  et al. 2002	12397416				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		124040	21066	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
121126	Y	bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	10	10q24.3-qter	CYP2E1	135190856	135224714		Korytina, G. F.  et al. 2005	15928955				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		124040	21062	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
121127		emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Budhi, A.  et al. 2003	12579334				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese	Japan	CDC GDPinfo	1571	Hs.12907			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		124040	21063	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
121122		cytogenetic studies	OTHER	OTH	DNA Damage	10	10q24.3-qter	CYP2E1	135190856	135224714		Naccarati, A.  et al. 2005	16043197				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		124040	21058	2	2005												
121123		lymphoma; Hodgkin's disease	CANCER	CAN		10	10q24.3-qter	CYP2E1	135190856	135224714		Sarmanova, J.  et al. 2000	11191882				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		124040	21059	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
121124		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Sarmanova, J.  et al. 2001	11406608				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		124040	21060	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
121119		cholesterol, HDL; blood pressure, arterial; acetaldehyde; lipid peroxide	METABOLIC	MET		10	10q24.3-qter	CYP2E1	135190856	135224714			16365683				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Journal of human genetics. 2006 ;51(2):104-11	ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumers		124040	21055	2	2005												
121120		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	10	10q24.3-qter	CYP2E1	135190856	135224714		You, W. C.  et al. 2005	15734972				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese		CDC GDPinfo	1571	Hs.12907			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		124040	21056	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)									
121121	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Wang, J.  et al. 2000	11798822				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese		CDC GDPinfo	1571	Hs.12907			Zhonghua yi xue za zhi. 2000 Aug;80(8):585-7	[Association between cytochrome P-450 enzyme gene polymorphisms and Parkinson's disease]		124040	21057	2	2000	 Our data suggest that CYP1A1 gene polymorphisms might be a genetic susceptible factor for early-onset PD, and CYP2E1 RsaI and PstI polymorphisms might not be a genetic susceptible factor for both early- and late-onset PD in the Chinese population tested.	Control:150 urelated healthy controls;Case:158 patients with Parkinson's disease										
121116	Y	alcoholism	CHEMDEPENDENCY	CHEM	Congenital Abnormalities	10	10q24.3-qter	CYP2E1	135190856	135224714		McCarver DG   2001	11259352				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Apr;29(4 Pt 2):562-5	Adh2 and cyp2e1 genetic polymorphisms: risk factorsfor alcohol-related birth defects		124040	21052	2	2001	genetic differences in ADH and CYP2E1 are likely determinants of offspring risk of intrauterine ethanol exposure.	Cohort African Americans and Caucasians 	alcohol									
121117		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		van der Logt, E. M.  et al. 2005	16039674				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Mutation research. 2006 Jan;593(2-Jan):39-49	Role of epoxide hydrolase, NAD(P)H:quinoneoxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer.		124040	21053	2	2005												
121118	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Raimondi, S.  et al. 2004	15370874				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Biomarkers. 2004 Mar-Apr;9(2):180-9	Association of metabolic gene polymorphisms with alcohol consumption in controls.		124040	21054	2	2004	Therefore, no significant association between CYP2E1 RsaI, CYP2E1 DraI, ADH1C, NQO1 polymorphisms and alcohol consumption was observed in healthy controls.	Cohort 2,224 subjects with information on both alcohol consumption and at least one of the studied polymorphisms 										
121113		cervical cancer	CANCER	CAN	Warts|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Au, W. W.   2004	15138035				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		United States|Venezuela	CDC GDPinfo	1571	Hs.12907			Toxicology. 2004 May;198(3-Jan):117-20	Life style, environmental and genetic susceptibility to cervical cancer.		124040	16516	2	2004	Our study indicates that the same susceptibility factors can have very different roles in the development of the same disease such as CC in different countries. The information is useful for the development of effective but different disease prevention programs for different countries in the control of CC.	Cohort cervical cancer patients Venezuela 										
121114		exposure to 1,3-butadiene	PHARMACOGENOMIC	PHARM		10	10q24.3-qter	CYP2E1	135190856	135224714		Fustinoni, S.  et al. 2002	12376511				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1082-90	Influence of metabolic genotypes on biomarkers of exposure to 1,3-butadiene in humans.		124040	17041	2	2002	Our results indicate that the THBVal level is influenced by genotypes, and that the analysis of combined polymorphisms may be the key to a better understanding of the role played by polymorphism of BD-metabolizing enzymes.	Control:10:clerks;Case:30 Italian 1,3-butadiene-exposed workers		CYP2E1		GSTM1		GSTT1 and THBVal		Y	"1,3-butadiene carcinogen"	"exposure to 1,3-butadiene "
121110	N	alcoholism; cirrhosis	CHEMDEPENDENCY	CHEM	Hepatitis C|Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Pastorelli, R.  et al. 2001	11236836				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Italian	Italy	CDC GDPinfo	1571	Hs.12907			Alcoholism, clinical and experimental research. 2001 Feb;25(2):221-7	Genetic determinants of alcohol addiction and metabolism: a survey in Italy.		124040	16218	2	2001	 Overall, our results provided no evidence of an increased susceptibility to develop alcoholism that was associated with the three genotypes investigated, either alone or in combination. An increased risk of developing liver cirrhosis for S/S homozygous carriers among alcohol-dependent patients was observed for the first time.	Case:60 alcoholics admitted to a specialized referral:center:Florence, Italy;Control:64 blood donors from the same hospital:Florence, Italy	alcohol smoking (tobacco)									
121111		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Salama, S. A.  et al. 2002	12355548				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Environmental and molecular mutagenesis. 2002 ;40(3):153-60	Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers.		124040	16219	2	2002	Since the analysis of genetic susceptibility factors is still in its infancy, our study may stimulate additional investigations to understand the roles of genetic susceptibility and cigarette smoking in AR.	Case:120 atherosclerosis patients;Control:90 matched controls	smoking (tobacco)	GSTM1	null allele	CYP2E1	5B			Y	cigarette smoking	Significantly higher frequency of chromosomal aberrations in Atherosclerosis (AR)
121107		acrylonitrile metabolism/toxicity; ethylene oxide metabolism/toxicity	UNKNOWN	UNK		10	10q24.3-qter	CYP2E1	135190856	135224714		Thier, R.  et al. 2001	11535247				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Mutation research. 2001 Oct;482(2-Jan):41-6	Influence of polymorphisms of the human glutathione transferases and cytochrome P450 2E1 enzyme on the metabolism and toxicity of ethylene oxide and acrylonitrile.		124040	10946	2	2001	The data, therefore, point to a possible influence of a human enzyme polymorphism of the GSTP1 gene at codon 104 on the detoxication of acrylonitrile which calls for experimental toxicological investigation. The study also confirmed the impact of GSTT1 polymorphism on background N-(hydroxyethyl)-valine adduct levels in haemoglobin which are caused by endogenous ethylene oxide.	Cohort 59 persons with industrial handling of low levels of acrylonitrile 	acrylonitrile									
121108	N	preterm delivery	REPRODUCTION	REP		10	10q24.3-qter	CYP2E1	135190856	135224714		Liang, H. Y.  et al. 2002	12561466				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Yi chuan xue bao. 2002 Oct;29(10):847-53	[Association of CYP2E1 of PON2311 polymorphisms in neonates with preterm]		124040	13264	2	2002	In conclusion, Rsa I polymorphism in the 5'-flanking region of CYP2E1 in neonates is not associated with preterm, however, PON2311 polymorphism in neonates is significantly associated with preterm. Furthermore, the gene interaction between Rsa I polymorphism in the 5'-flanking region of CYP2E1 and PON2311 polymorphism in neonates is significantly associated with preterm.	Case live born mother-neonate preterms;Control live born mother-neonate term controls										
121104		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Iizasa, T.  et al. 2005	16142352				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese	Japan	CDC GDPinfo	1571	Hs.12907			Oncology reports. 2005 Oct;14(4):919-23	A polymorphism in the 5'-flanking region of the CYP2E1 gene and elevated lung adenocarcinoma risk in a Japanese population.		124040	9988	2	2005	We conclude that  the A4/A4 genotype of the 5'-flanking region of CYP2E1 was significantly more frequent in lung adenocarcinoma cases than in healthy controls and, therefore, may be involved in the development of lung adenocarcinoma.											
121105		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Sierra-Torres, C. H.  et al. 2003	12552594				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Environmental and molecular mutagenesis. 2003 ;41(1):69-76	Polymorphisms for chemical metabolizing genes and risk for cervical neoplasia		124040	10311	2	2003	Further studies using larger populations will be needed to confirm our observations and to validate data for disease prevention.	Control:75 matched healthy controls;Case:76 cases with high-grade cervical neoplasia or with invasive cervical cancer	smoking (tobacco)									
121101	Y	benzene toxicity	METABOLIC	MET	Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Wan, J.  et al. 2002	12460800				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Environmental health perspectives. 2002 Dec;110(12):1213-8	Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.		124040	9983	2	2002	Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.	Control:152 workers occupationally exposed to benzene;Case:156 benezene-poisoning patients South China	alcohol smoking (tobacco)									
121102	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	10	10q24.3-qter	CYP2E1	135190856	135224714			15125228				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		Bashkiria	CDC GDPinfo	1571	Hs.12907			Molekuliarnaia biologiia. 2004 Mar-Apr;38(2):239-43	[Insertional polymorphism of the CYP2E1 gene in infiltrative pulmonary tuberculosis in populations of Bashkortostan Republic]		124040	9985	2	2004	The CYP2E1 polymorphism was associated with infiltrative pulmonary tuberculosis in the Bashkortostan population.	Cohort three ethnic groups Bashkortostan 										
121103	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Yu, W. P.  et al. 2004	15182482				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		China	CDC GDPinfo	1571	Hs.12907			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 May;38(3):162-6	[Genetic polymorphism in cytochrome P450 2E1, salted food and colorectal cancer susceptibility: acase-control study]		124040	9986	2	2004	 The CYP2E1 C2 allele is a susceptibility factor for colorectal cancer, especially for colon cancer, and there is an apparent gene-environment interaction between the susceptible genotype and salted food.	Case:126 colorectal cancer cases;Control:343 normal controls	diet salt									
121098	Y	genetic polymorphism	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Li Z et al. 2000	11776598				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	KGB	1571	Hs.12907			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2000 Jan;22(1):7-May	Susceptibility to lung cancer in Chinese is associated with genetic polymorphism in cytochrome P4502E1		124040	8087	1	2000	 The CYP2E1 c1/c1 genotype is a susceptibility factor for development of lung cancer in Chinese and there is an apparent gene-environment interaction between the susceptible genotype and cigarette smoking.	Control:137 frequency-matched normal controls;Case:92 lung cancer cases	smoking (tobacco)									
121099		leukemia	CANCER	CAN	Leukemia, Pre-b-cell|Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Krajinovic, M.  et al. 2002	11774269				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			International journal of cancer. Journal international du cancer. 2002 Jan;97(2):230-6	Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia.		124040	9979	2	2002	It is therefore plausible that exposure to xenobiotics metabolized by these enzymes play a role in the etiology of childhood ALL.	Case:174 Aculte lymphoblastic leukemia patients of French Canadian origin;Control:337 controls of French-Canadian origin		CYP2E1	5	NQO1	2 and 3	MPO	wild-type	Y	"exposure to xenobiotics present in organic solvents, tobacco smoke, drugs, plastic derivatives and pesticides"	Acute lymphoblastic leukemia (ALL)
121100	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Li, Z.  et al. 2000	11776598				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	CDC GDPinfo	1571	Hs.12907			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2000 Jan;22(1):7-May	[Susceptibility to lung cancer in Chinese is associated with genetic polymorphism in cytochrome P4502E1]		124040	9980	2	2000	 The CYP2E1 c1/c1 genotype is a susceptibility factor for development of lung cancer in Chinese and there is an apparent gene-environment interaction between the susceptible genotype and cigarette smoking.	Control:137 frequency-matched normal controls;Case:92 lung cancer cases	smoking (tobacco)									
121095	Y	preterm birth	REPRODUCTION	REP		10	10q24.3-qter	CYP2E1	135190856	135224714		Liang HY et al. 2002	12561466				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			KGB	1571	Hs.12907			Yi chuan xue bao. 2002 Oct;29(10):847-53	Association of CYP2E1 of PON2311 polymorphisms in neonates with preterm		124040	1666	1	2002	In conclusion, Rsa I polymorphism in the 5'-flanking region of CYP2E1 in neonates is not associated with preterm, however, PON2311 polymorphism in neonates is significantly associated with preterm. Furthermore, the gene interaction between Rsa I polymorphism in the 5'-flanking region of CYP2E1 and PON2311 polymorphism in neonates is significantly associated with preterm.	Case live born mother-neonate preterms;Control live born mother-neonate term controls										
121096		liver cancer risk in HCV antibody-positive	CANCER	CAN	Hepatitis C|Liver Neoplasms|Liver Cirrhosis	10	10q24.3-qter	CYP2E1	135190856	135224714		Kato S 2003	12940444				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese	Japan	KGB	1571	Hs.12907			Scandinavian journal of gastroenterology. 2003 Aug;38(8):886-93	Genetic polymorphisms of aldehyde dehydrogenase 2, cytochrome p450 2E1 for liver cancer risk in HCV antibody-positive japanese patients and the variations of CYP2E1 mRNA expression levels in the liver due to its polymorphism.		124040	1667	1	2003	 ALDH2 and CYP2E1 polymorphisms may modify the risk of development of HCC against the background of LC in the Japanese. Polymorphism analysis of alcohol-metabolizing enzymes using molecular techniques may be useful in the risk assessment of liver cancer in patients with hepatitis C virus infection.											
121097		stomach cancer	CANCER	CAN	Stomach Neoplasms|Metaplasia	10	10q24.3-qter	CYP2E1	135190856	135224714		Chen SY 2004	14696128				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		Taiwan	KGB	1571	Hs.12907			International journal of cancer. Journal international du cancer. 2004 Feb;108(4):606-12	Modification effects of GSTM1, GSTT1 and CYP2E1 polymorphisms on associations between raw salted food and incomplete intestinal metaplasia in a high-risk area of stomach cancer.		124040	1668	1	2004												
121092	Y	liver cirrhosis	OTHER	OTH	Fatty Liver, Alcoholic|Liver Cirrhosis, Alcoholic|Disease Susceptibility	10	10q24.3-qter	CYP2E1	135190856	135224714		Maezawa Y et al. 1994	7908498				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		Japan	KGB	1571	Hs.12907			The American journal of gastroenterology. 1994 Apr;89(4):561-5	Association between restriction fragment length polymorphism of the human cytochrome P450IIE1 gene and susceptibility to alcoholic liver cirrhosis.		124040	1663	1	1994	 This result suggests that susceptibility to alcoholic liver cirrhosis may be associated with the RsaI and PstI polymorphism of the P450IIE1 gene.											
121093	Y	adult brain tumors	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		De Roos AJ 2003	12540498	GSTP1 105 Val/Val			Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	patients from 3 USA hospitals	United States	KEW	1571	Hs.12907			Cancer epidemiology, biomarkers & prevention. 2003 Jan;12(1):14-22			124040	1664	1	2003		Case:782; Control:1277										
121094	Y	lung cancer	CANCER	CAN	Neoplasms|Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Uematsu F et al. 1991	1673675				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			KGB	1571	Hs.12907			Japanese journal of cancer research. 1991 Mar;82(3):254-6	Association between restriction fragment length polymorphism of the human cytochrome P450IIE1 gene and susceptibility to lung cancer.		124040	1665	1	1991												
121087	N	Human Hepatocellular Carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714	n	Lee HS 1997	9180139	c1. c2			Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Korean and Japanese	Japan|Korea	KGB	1571	Hs.12907			International journal of cancer. Journal international du cancer. 1997 May;71(5):737-40			124040	1658	1	1997	We conclude that  there is a lack of association of the polymorphisms of CYP2E1 with the risk of HCC in humans.	Case:171; Control:31										
121089		esophageal cancer and lung cancer	CANCER	CAN	Esophageal Neoplasms|Lung Neoplasms|Alcoholism|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Itoga S et al. 2002	12198369				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		Japan	KGB	1571	Hs.12907			Alcoholism, clinical and experimental research. 2002 Aug;26(8 Suppl):15S-19S	Tandem repeat polymorphism of the CYP2E1 gene: an association study with esophageal cancer and lung cancer.		124040	1660	1	2002	 The distribution of genotypes and allele frequencies of the tandem repeats of the 5'-flanking region of the CYP2E1 gene was significantly different in patients with esophageal cancer.											
121090	N	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcohol Amnestic Disorder|Alcoholism	10	10q24.3-qter	CYP2E1	135190856	135224714	n	Ball DM et al. 1995	8556966				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			KGB	1571	Hs.12907			Drug and alcohol dependence. 1995 Oct;39(3):181-4	No association between the c2 allele at the cytochrome P450IIE1 gene and alcohol induced liver disease alcohol Korsakoff's syndrome or alcohol dependence syndrome.		124040	1661	1	1995												
121084		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	10	10q24	CYP2C9	96688429	96739137		Watanabe, I.  et al. 2003	12732844				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese	Japan	CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		601130	28139	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
121085	Y	genetically deficient metabolism of debrisoquine and other drugs	OTHER	OTH		22	22q13	CYP2D7P1				Skoda RC et al. 1988	2899325				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104			KGB	1564	Hs.567233			Proceedings of the National Academy of Sciences of the United States of America. 1988 Jul;85(14):5240-3	Two mutant alleles of the human cytochrome P-450db1 gene (P450C2D1) associated with genetically deficient metabolism of debrisoquine and other drugs.			1613	1	1988												
121086		manganism, susceptibility to occupational chronic	OTHER	OTH	Central Nervous System Diseases|Manganese Poisoning|Occupational Diseases	22	22q13.1	CYP2D6	40852444	40856827		Zheng, Y. X.  et al. 2002	12171760				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1564	Hs.333497			Biomarkers. 2002 Jul-Aug;7(4):337-46	Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.		124030	21051	2	2002	The results suggest that CYP2D6L gene polymorphism might influence susceptibility to manganese-induced neurotoxicity. However, because of limited sample size, our results should be validated in large-scale studies.	Case:49 patients with chronic manganism;Control:50 unrelated healthy controls who were welders and ferromanganese smelters and occupationally exposed to manganese dust and fume in the same workshops from three metallurgical industries										
121081		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	10	10q24	CYP2C9	96688429	96739137		Humma, L. M.  et al. 2002	12116890				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		601130	27402	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
121082		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		England	CDC GDPinfo	1559	Hs.282624			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		601130	27403	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
121083		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24	CYP2C9	96688429	96739137		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		601130	27900	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
121078		ulcer, gastric; repaglinide pharmacology; coagulation disorder	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Halling, J.  et al. 2005	16025294				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Faroese		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2005 Aug;61(7):491-7	Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.		601130	24247	2	2005	 The frequency of CYP2D6 poor metabolizers is twofold higher among the Faroese population than other Caucasians, while the frequencies of Faroese subjects with decreased CYP2C19, CYP2C8 and CYP2C9 enzyme activity are the same as seen in other Caucasian populations. A possible consequence might be a higher incidence of side effects among Faroese patients taking pharmaceuticals that are CYP2D6 substrates.											
121079		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Gaikovitch, E. A.  et al. 2003	12879168				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Russian		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		601130	25925	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
121075		cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Hematologic Neoplasms	10	10q24	CYP2C9	96688429	96739137		Xie, H.  et al. 2005	16183265				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of pharmaceutical sciences. 2006 Jan;27(1):54-61	Pharmacogenetics of cyclophosphamide in patients with hematological malignancies.		601130	24244	2	2005												
121076		premature ovarian failure; lupus nephritis	REPRODUCTION	REP	Lupus Nephritis|Kidney Failure, Chronic|Ovarian Failure, Premature	10	10q24	CYP2C9	96688429	96739137		Takada, K.  et al. 2004	15248218				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Arthritis and rheumatism. 2004 Jul;50(7):2202-10	Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.		601130	24245	2	2004	 Determination of selected cytochrome P450 enzyme genotypes may be valuable for predicting the risk of premature ovarian failure in lupus nephritis patients treated with cyclophosphamide. The association of these genotypes with renal response needs further validation.	Cohort 62 patients with proliferative lupus nephritis treated with cyclophosphamide 	cyclophosphamide									
121077		cyclophosphamide phamacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Timm, R.  et al. 2005	16116487				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2005 ;5(6):365-73	Association of cyclophosphamide pharmacokinetics to polymorphic cytochrome P450 2C19.		601130	24246	2	2005												
121072		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		McGreavey, L. E.  et al. 2005	16141797				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics and genomics. 2005 Oct;15(10):713-21	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.		601130	21022	2	2005	 Our study confirmed the reduction in risk of colorectal cancer with regular NSAID use (odds ratio (OR) = 0.73, 95% confidence interval (CI) (0.56, 0.95)) but showed that none of the polymorphic genes studied appeared to modify the protective effect of regular NSAID use.		nonsteroidal anti-inflammatory (NSAID)									
121073	Y	phenytoin levels	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Kerb, R.  et al. 2001	11908757				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2001 ;1(3):204-10	The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels.		601130	24242	2	2001	The regression equation that fitted the data best included the number of mutant CYP2C9 and MDR*T alleles as predictory variables and explained 15.4% of the variability of phenytoin data (r2 = 0.154, P = 0.0002). Furthermore, analysis of CYP2C9 and MDR1 genotypes in 35 phenytoin-treated patients recruited from therapeutic drug monitoring showed that combined CYP2C9 and MDR1 analysis has some predictive value not only in the controlled settings of a clinical trial, but also in the daily clinical practice.	Cohort 96 healthy Turkish volunteers 										
121074		phenytoin	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Allabi, A. C.  et al. 2005	16220110				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics and genomics. 2005 Nov;15(11):779-86	CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population.		601130	24243	2	2005												
121070	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q24	CYP2C9	96688429	96739137		Yasar, U.  et al. 2003	14646690				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Sweden	CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2003 Dec;13(12):715-20	Allelic variants of cytochromes P450 2C modify the risk for acute myocardial infarction.		601130	21020	2	2003	Possession of rare genetic variants of the CYP2C8 and CYP2C9 genes in females is associated with a modest increase in risk of AMI. This might be related to genetic differences in the formation of endogenous vasoregulating eicosanoids.	Case:1,172 acute myocardial infarction cases who participated in the Stockholm Heart Epidemiology Program (SHEEP);Control:1,503 controls (matched by age, sex and residential area) who participated in the Stockholm Heart Epidemiology Program (SHEEP)										
121071		hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24	CYP2C9	96688429	96739137		Dreisbach, A. W.  et al. 2005	16202848				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	African Americans		CDC GDPinfo	1559	Hs.282624			American journal of hypertension. 2005 Oct;18(10):1276-81	The Prevalence of CYP2C8, 2C9, 2J2, and soluble epoxide hydrolase polymorphisms in African Americans with hypertension.		601130	21021	2	2005	 These results suggest that these epoxygenase-related SNP are not associated with increased risk of hypertension in the African American population. There was significant linkage disequilibrium between CYP2C8*3 and CYP2C9*2 alleles that was not associated with hypertension.											
121067		cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Hamdy, S. I.  et al. 2002	12047484				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	African American		CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2002 Jun;53(6):596-603	Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.		601130	21017	2	2002	 Comparing our data with that obtained in several Caucasian, African-American and Asian populations, we found that Egyptians resemble Caucasians with regard to allelic frequencies of the tested variants of CYP2C9, CYP2C19, CYP2E1 and DPYD. Our results may help in better understanding the molecular basis underlying ethnic differences in drug response, and contribute to improved individualization of drug therapy in the Egyptian population.	Cohort 247 unrelated Egyptian subjects 										
121068		anticoagulant complications; ibuprofen clearance	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Yasar, U.  et al. 2002	12435384				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Biochemical and biophysical research communications. 2002 Nov;299(1):25-8	Linkage between the CYP2C8 and CYP2C9 genetic polymorphisms		601130	21018	2	2002	The number of subjects carrying both of the CYP2C8*1*3 and CYP2C9*1*2 was 4.5-fold higher than expected. This strong association may be of importance especially for the metabolism of common substrates of CYP2C8 and CYP2C9 like arachidonic acid that produces physiologically active metabolites.	Cohort 1468 subjects that were used as population-based controls in the Stockholm Heart Epidemiology Program (SHEEP) 										
121065		seizures; thrombosis, deep vein; systemic sclerosis	NEUROLOGICAL	NEUR		10	10q24	CYP2C9	96688429	96739137		Eriksson, S.  et al. 2002	15090156				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Assay and drug development technologies. 2002 Nov;1(1 Pt 1):49-59	Cytochrome p450 genotyping by multiplexed real-time dna sequencing with pyrosequencing technology.		601130	21015	2	2002	Pyrosequencing technology offers a highly automated, rapid, and accurate method for identification of cytochrome p450 alleles, which is suitable for pharmacogenomic research, as well as for routine assessment of patient genotypes.	Cohort patients samples 										
121066		cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Ishiguro, A.  et al. 2005	15691505				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Analytical biochemistry. 2005 Feb;337(2):256-61	High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.		601130	21016	2	2005	To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.	Cohort 139 Japanese volunteers 										
121062		drug hypersensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Egger, T.  et al. 2005	15813658				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Drugs & aging. 2005 ;22(3):265-72	Cytochrome p450 polymorphisms in geriatric patients: impact on adverse drug reactions--a pilotstudy.		601130	21012	2	2005	 In this investigation geriatric patients showed a high rate of ADRs. However, no association between the ADR rate and the patients' genotype could be detected, which most likely was a result of the small number of patient samples analysed.Although prophylactic genotyping would have not prevented ADRs in this pilot study, physicians nevertheless have to be aware of potential genetic mutations in patients with polypharmacy.	Cohort 243 patients in a geriatric rehabilitation ward, mean age 80.2 +/- 7.7 years 										
121063		fluoxetine pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Scordo, M. G.  et al. 2005	16236141				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Basic & clinical pharmacology & toxicology. 2005 Nov;97(5):296-301	Influence of CYP2C9, 2C19 and 2D6 genetic polymorphisms on the steady-state plasma concentrations of the enantiomers of fluoxetine and norfluoxetine.		601130	21013	2	2005												
121064		doxepin metabolism	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2002	12360109				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2002 Oct;12(7):571-80	Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers.		601130	21014	2	2002	The CYP2D6 polymorphism had a major impact on E-doxepin pharmacokinetics and CYP2D6 PMs might be at an elevated risk for adverse drug effects when treated with common recommended doses.	Cohort healthy volunteers 	doxepin									
121059		lung cancer; liver cancer	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Bozina, N.  et al. 2003	12950145				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	European		CDC GDPinfo	1559	Hs.282624			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9,CYP2C19, and CYP2D6 in Croatian population.		601130	21009	2	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia 										
121060		trimipramine pharmakokinetics	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2003	14520122				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of clinical psychopharmacology. 2003 Oct;23(5):459-66	Effects of polymorphisms in CYP2D6, CYP2C9, and CYP2C19 on trimipramine pharmacokinetics.		601130	21010	2	2003	This indicates that both CYP2C enzymes contribute to the demethylation of desmethyltrimipramine and CYP2D6 to further metabolism.	Cohort 42 healthy volunteers 	trimipramine									
121061		arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Scordo, M. G.  et al. 2004	15177309				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDPinfo	1559	Hs.282624			Pharmacological research. 2004 Aug;50(2):195-200	Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population.		601130	21011	2	2004	Frequencies of both CYP2C9 and CYP2C19 allelic variants, as well as CYP2D6 detrimental alleles, in Italian subjects were similar to those of other Caucasian populations. Conversely, the prevalence of CYP2D6 gene duplication among Italians resulted very high, confirming the higher frequency of CYP2D6 UM in the Mediterranean area compared to Northern Europe.	Cohort 360 unrelated healthy Italian volunteers (210 males and 150 females, aged 19-52 years) Italy 										
121056	Y	chlorpropamide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Shon, J. H.  et al. 2005	15842554				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2005 May;59(5):552-63	Chlorpropamide 2-hydroxylation is catalysed by CYP2C9 and CYP2C19 in vitro: chlorpropamidedisposition is influenced by CYP2C9, but not by CYP2C19 genetic polymorphism.		601130	21006	2	2005	 These results suggest that chlorpropamide disposition is principally determined by CYP2C9 activity in vivo, although both CYP2C9 and CYP2C19 have a catalysing activity of chlorpropamide 2-hydroxylation pathway.	Cohort 21 healthy subjects 										
121057		phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Taguchi, M.  et al. 2005	15855721				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese		CDC GDPinfo	1559	Hs.282624			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):107-12	Evaluation of phenytoin dosage regimens based on genotyping of CYP2C subfamily in routinely treated Japanese patients.		601130	21007	2	2005	These findings suggested that the mechanism responsible for the large variability in the clearance of phenytoin is not completely resolved, and that we should not overestimate the usefulness of genotyping the CYP2C subfamily in determining the dosage regimens of the drug.	Cohort 20 routinely treated Japanese patients 										
121058		E7070 phamacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q24	CYP2C9	96688429	96739137		Yamada, Y.  et al. 2005	16232205				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Cancer science. 2005 Oct;96(10):721-8	Phase I pharmacokinetic and pharmacogenomic study of E7070 administered once every 21 days.		601130	21008	2	2005												
121054		lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Bravo-Villalta, H. V.  et al. 2005	15776277				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	South American		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2005 May;61(3):179-84	Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative andcomparative study		601130	21004	2	2005	 This is the first study to investigate a South American population for genetic polymorphism in the CYP2C subfamily. The Bolivian population differs from most other ethnic groups in the incidence of CYP2C9 and CYP2C19 common variants that might be influenced by its admixture characteristics.	Cohort Bolivian individuals Bolivia 										
121055		glyburide pharmacokinetics	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Yin, O. Q.  et al. 2005	16198656				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 Oct;78(4):370-7	CYP2C9, but not CYP2C19, polymorphisms affect the pharmacokinetics and pharmacodynamics of glyburide in Chinese subjects.		601130	21005	2	2005	 CYP2C9, but not CYP2C19, polymorphism appears to exert a dominant influence on glyburide pharmacokinetics and pharmacodynamics in vivo. Further studies in diabetic patients with long-term dosing are warranted to confirm these findings.											
121050		lung cancer	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Allabi, A. C.  et al. 2003	14616425				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2003 Dec;56(6):653-7	Genetic polymorphisms of CYP2C9 and CYP2C19 in the Beninese and Belgian populations.		601130	21000	2	2003	 Differences of allele frequencies between Beninese and Belgian populations were statistically significant for CYP2C9*2, *3, *5 and *11, but not for CYP2C9*4 or for CYP2C19*2 and *3.	Cohort 111/121 Beninese (n=111) and Belgian (n=121) Caucasian populations 										
121051	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Hung, C. C.  et al. 2004	15385837				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Taiwan	CDC GDPinfo	1559	Hs.282624			Therapeutic drug monitoring. 2004 Oct;26(5):534-40	Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms.		601130	21001	2	2004	The results revealed that the CYP2C9 and CYP2C19 polymorphisms have dramatic effects on the population pharmacokinetic parameters of phenytoin, especially for CYP2C9. Based on the Vm and Km values obtained in this study, the recommended dose ranges for G1, G2, G3, G4, and G5 patients would be 5.5-7, 5-7, 5-6, 3-4, and 2-3 mg/kg/d, respectively.	Cohort 169 epileptic patients receiving phenytoin treatment for more than 1 month 	phenytoin									
121052		phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Huang, Y.  et al. 2004	15569425				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Zhonghua yi xue za zhi. 2004 Oct;84(20):1686-9	[Association between genetic polymorphisms of CYP2C19 and CYP2C9 and phenytoin serum concentration]		601130	21002	2	2004	 Phenytoin is metabolized via CYP2C19 and CYP2C9. The PHT serum concentration of the PM is significantly higher. Genotyping helps predict the clinical response to PHT administration.	Cohort 200 patients with epilepsy, aged 2-68 										
121047		anticoagulant complications	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Wadelius, M.  et al. 2003	14676821				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2004 ;4(1):40-8	Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors.		601130	20997	2	2003	CYP3A5 did not affect warfarin dosing. An ABCB1 haplotype containing the exon 26 3435T variant was over-represented among low-dose patients. Thirty-six patients with serious bleeding complications had higher prothrombin time international normalised ratios than 189 warfarin-treated patients without serious bleeding, but there were no significant differences in CYP2C9, CYP3A5 or ABCB1 genotypes and allelic variants.	Cohort 201 stable warfarin-treated patients 	warfarin									
121048		tamoxifen, metabolism	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Coller, J. K.  et al. 2002	12207635				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2002 Aug;54(2):157-67	The influence of CYP2B6, CYP2C9 and CYP2D6 genotypes on the formation of the potent antioestrogen Z-4-hydroxy-tamoxifen in human liver		601130	20998	2	2002	 CYP2B6, CYP2C9 and CYP2D6 genotypes all affected Z-4-hydroxy-tamoxifen formation and can predict individual ability to catalyse this reaction.	Cohort 50 human liver samples 	tamoxifen									
121044		warfarin therapy, response to	PHARMACOGENOMIC	PHARM	Heart Diseases	10	10q24	CYP2C9	96688429	96739137		Veenstra, D. L.  et al. 2005	16141794				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese	Hong Kong	CDC GDPinfo	1559	Hs.282624			Pharmacogenetics and genomics. 2005 Oct;15(10):687-91	Association of Vitamin K epoxide reductase complex 1 (VKORC1) variants with warfarin dose in a Hong Kong Chinese patient population.		601130	20168	2	2005	 VKORC1 genotype is the dominant genetic influence on inter-individual variability in warfarin dose in Hong Kong Chinese. The lower mean dose of warfarin in Chinese, relative to Europeans, appears to be a reflection of their preponderance of the 'low-dose' VKORC1 H1/H1 (homozygous group A) genotype.											
121045		leukemia, childhood acute; hypertension	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Verstuyft, C.  et al. 2003	12805007				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Annales de biologie clinique. 2003 May-Jun;61(3):305-9	[A new, rapid and robust genotyping method for CYP2C9 and MDR1]		601130	20995	2	2003	Allelic discrimination assays based on fluorescent PCR gave entire satisfaction for CYP2C9 and MDR1 genotyping. This reliable genotyping strategy can be easily used in clinical practice and should be further developed for additional SNPs identification.	Cohort 16/55 subjects with previously identified CYP2C9 (n=16) and ABCB1 (n=55) genotypes 										
121041		endoxifen	PHARMACOGENOMIC	PHARM	Breast Neoplasms	10	10q24	CYP2C9	96688429	96739137		Jin, Y.  et al. 2005	15632378				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of the National Cancer Institute. 2005 Jan;97(1):30-9	CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment.		601130	16211	2	2005	 Interactions between CYP2D6 polymorphisms and coadministered antidepressants and other drugs that are CYP2D6 inhibitors may be associated with altered tamoxifen activity.	Cohort 80 patients with newly diagnosed breast cancer 	CYP2D6 inhibitors tamoxifen									
121042		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Loebstein, R.  et al. 2005	15900282				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 May;77(5):365-72	Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9.		601130	16521	2	2005	 Variant mEH T 612 C genotypes are associated with warfarin doses of greater than 50 mg/wk beyond the effect of CYP2C9.	Cohort 100 patients undergoing therapeutic anticoagulation 										
121043		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyps|Colonic Neoplasms	10	10q24	CYP2C9	96688429	96739137		Bigler, J.  et al. 2001	11325819				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Cancer research. 2001 May;61(9):3566-9	CYP2C9 and UGT1A6 genotypes modulate the protective effect of aspirin on colon adenoma risk.		601130	20079	2	2001	the effectiveness of chemopreventive drugs can be modulated by the genotype of metabolizing enzymes.	Case:474 adenoma cases;Control:563:controls										
121038	Y	depression	PSYCH	PSY	Mental Disorders	10	10q24	CYP2C9	96688429	96739137		LLerena, A.  et al. 2004	14726986				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2004 Feb;59(12):869-73	Effect of CYP2D6 and CYP2C9 genotypes on fluoxetine and norfluoxetine plasma concentrations during steady-state conditions		601130	16202	2	2004	 The present results show that CYP2D6 and potentially CYP2C9 genotypes seem to influence fluoxetine plasma concentration during steady-state conditions in patients.	Cohort 64 White European psychiatric patients receiving antidepressant monotherapy with fluoxetine 	fluoxetine									
121039		haloperidol, plasma	PHARMACOGENOMIC	PHARM	Mental Disorders	10	10q24	CYP2C9	96688429	96739137		LLerena, A.  et al. 2004	15048614				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacopsychiatry. 2004 Mar;37(2):69-73	Relationship between haloperidol plasma concentration, debrisoquine metabolic ratio, CYP2D6 and CYP2C9 genotypes in psychiatric patients		601130	16203	2	2004	 The present data support the dose-dependent inhibitory effect of haloperidol on CYP2D6, and the influence of this enzyme activity on haloperidol plasma concentration under steady-state conditions. The inhibitory effect of haloperidol on CYP2D6 enzyme activity may result in drug interactions and unexpected high plasma concentrations when drugs metabolized by the same enzyme are given concomitantly with haloperidol.	Cohort 30 Caucasian psychiatric patients under haloperidol monotherapy 	haloperidol									
121035		piroxicam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Perini, J. A.  et al. 2005	16198655				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 Oct;78(4):362-9	Influence of CYP2C9 genotypes on the pharmacokinetics and pharmacodynamics of piroxicam.		601130	16184	2	2005	 Piroxicam's oral clearance was impaired and its inhibitory effect on cyclooxygenase 1 activity was increased in CYP2C9*1/*2 or CYP2C9*1/*3 individuals, as compared with CYP2C 9*1 homozygous individuals.											
121036		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Wilke, R. A.  et al. 2005	16303885				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical medicine & research. 2005 Nov;3(4):207-13	Impact of Age, CYP2C9 Genotype and Concomitant Medication on the Rate of Rise for Prothrombin Time During the First 30 Days of Warfarin Therapy.		601130	16185	2	2005												
121037		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137			16321620				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 Nov;78(5):540-50	Several-fold increase in risk of overanticoagulation by CYP2C9 mutations		601130	16186	2	2005	 The CYP2C9*2 and *3 single-nucleotide polymorphisms significantly increase the risk of overanticoagulation during the first 2 weeks of warfarin treatment, with increased INR levels evident after only 4 days' treatment in *2 carriers. Our prospective data are consistent with results from previous retrospective studies and indicate that CYP2C9 genotyping may be a means of improving safety during warfarin induction.		warfarin									
121032	Y	irbesartan phamacokinetics	PHARMACOGENOMIC	PHARM	Hypertension	10	10q24	CYP2C9	96688429	96739137		Hong, X.  et al. 2005	16094537	CYP2C9*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2005 Oct;61(9):627-34	CYP2C9*3 allelic variant is associated with metabolism of irbesartan in Chinese population.		601130	16181	2	2005	 Our study suggests that the CYP2C9*3 plays an important role in the metabolism of irbesartan and/or is in linkage disequilibrium with another potential CYP2C9 allele, both of which possibly modify the pharmacokinetics of irbesartan.											
121033		trimipramine pharmakokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Nakai, K.  et al. 2005	16111713				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese		CDC GDPinfo	1559	Hs.282624			Life sciences. 2005 Nov;78(1):107-11	Ethnic differences in CYP2C9*2 (Arg144Cys) and CYP2C9*3 (Ile359Leu) genotypes in Japanese and Israeli populations.		601130	16182	2	2005												
121034		warfarin sensitivity	METABOLIC	MET	Thromboembolism	10	10q24	CYP2C9	96688429	96739137		Hillman, M. A.  et al. 2005	16160068				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical medicine & research. 2005 Aug;3(3):137-45	A prospective, randomized pilot trial of model-based warfarin dose initiation using CYP2C9 genotype and clinical data.		601130	16183	2	2005	 Prospective application of a multivariate CYP2C9 gene-based warfarin dosing model is feasible.											
121029	Y	warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Veenstra, D. L.  et al. 2005	15900281				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	European		CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 May;77(5):353-64	CYP2C9 haplotype structure in European American warfarin patients and association with clinical outcomes.		601130	16178	2	2005	 These data establish a whole-gene, high-resolution haplotype structure for CYP2C9 in a European American patient population and suggest that genetic variation in exons, rather than the promoter or other regulatory regions, is largely responsible for warfarin sensitivity associated with CYP2C9 variants in this population.	Cohort 192 European American patients stabilized on warfarin therapy 										
121030		anticoagulant complications	METABOLIC	MET	Overdose	10	10q24	CYP2C9	96688429	96739137		Visser, L. E.  et al. 2005	15961979				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2005 Jun;77(6):479-85	Allelic variants of cytochrome P450 2C9 modify the interaction between nonsteroidal anti-inflammatory drugs and coumarin anticoagulants.		601130	16179	2	2005	 Several NSAIDs were associated with overanticoagulation. For NSAIDs that are known CYP2C9 substrates, this risk was modified by allelic variants of CYP2C9. More frequent INR monitoring of patients taking NSAIDs is warranted.		anticoagulation nonsteroidal anti-inflammatory (NSAID)									
121026	Y	coagulation disorder	HEMATOLOGICAL	HEM	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Sanderson, S.  et al. 2005	15714076				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Genetics in medicine. 2005 Feb;7(2):97-104	CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematicreview and meta-analysis.		601130	16175	2	2005	 Patients with CYP2C9*2 and CYP2C9*3 alleles have lower mean daily warfarin doses and a greater risk of bleeding. Testing for gene variants could potentially alter clinical management in patients commencing warfarin. Evidence for the clinical utility and cost-effectiveness of genotyping is needed before routine testing can be recommended.											
121027		warfarin sensitivity	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Voora, D.  et al. 2005	15841315				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2005 Apr;93(4):700-5	Prospective dosing of warfarin based on cytochrome P-450 2C9 genotype.		601130	16176	2	2005												
121023		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Zhao, F.  et al. 2004	15371982				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Sep;76(3):210-9	Novel CYP2C9 genetic variants in Asian subjects and their influence on maintenance warfarin dose.		601130	16172	2	2004	 Interethnic differences in warfarin dosing in Asian subjects may result from other genetic, dietary, or environmental influences; however, these novel variants in the gene warrant further characterization through functional studies.	Cohort 125 patients who were receiving a stable daily warfarin dose to maintain international normalized ratio values between 2 and 3 through comprehensive sequencing of the promoter and coding regions of the CYP2C9 gene 										
121024		lornoxicam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		LLerena, A.  et al. 2004	15452553	CYP2C9*2			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Mexican		CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2004 ;4(6):403-6	Lower frequency of CYP2C9*2 in Mexican-Americans compared to Spaniards.		601130	16173	2	2004	The obtained frequency of CYP2C9 alleles is compatible with the genomic assembly of the constitutive potential ethnic origin of this population, and supports the need of pharmacogenetic studies for optimizing the recommended drug dosages to Mexican-Americans.	Cohort 98/102 Mexican-Americans (n=98 subjects) and Spaniards (n=102 subjects) 										
121025	Y	lornoxicam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Zhang, Y.  et al. 2005	15606435				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2005 Jan;59(1):14-7	Lornoxicam pharmacokinetics in relation to cytochrome P450 2C9 genotype.		601130	16174	2	2005	 The results show that the pharmacokinetics of lornoxicam are dependent on CYP2C9 polymorphism. In particular, the presence of the CYP2C9*3 allele impairs the oral clearance of lornoxicam.	Cohort 18 healthy Chinese male subjects 										
121020		tenoxicam concentrations	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Vianna-Jorge, R.  et al. 2004	15229460				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	African American		CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Jul;76(1):18-26	CYP2C9 genotypes and the pharmacokinetics of tenoxicam in Brazilians		601130	16169	2	2004	 The allelic and genotypic frequencies of CYP2C9*1, *2, and *3 in white and black Brazilians are similar to those reported for other white (Caucasian) and black (African and African American) populations, respectively. Heterozygosis for CYP2C9*3, and to a lesser degree CYP2C9*2, increases the exposure to tenoxicam during single and repeated doses.	Cohort 21 individuals with CYP2C9*1/*1 (n = 12), CYP2C9*1/*2 (n = 4), or CYP2C9*1/*3 genotypes (n = 5), after single oral doses of 20 mg tenoxicam Cohort 331 healthy Brazilians, classified as white (n = 136), black (n = 77), or intermediate (n = 118) Brazil 	tenoxicam									
121021		anticoagulant complications	METABOLIC	MET	Thromboembolism	10	10q24	CYP2C9	96688429	96739137		Hillman, M. A.  et al. 2004	15284536				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2004 Aug;14(8):539-47	Relative impact of covariates in prescribing warfarin according to CYP2C9 genotype		601130	16170	2	2004	These results will help strengthen the mathematical models that are currently being developed for prospective gene-based warfarin dosing.	Cohort 453 patients managed by the anticoagulation service of a large, horizontally integrated, multispecialty group practice 	warfarin									
121018	Y	losartan oxidation	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Babaoglu, M. O.  et al. 2004	15197523				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Turkish		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2004 Jul;60(5):337-42	CYP2C9 genetic variants and losartan oxidation in a Turkish population.		601130	16167	2	2004	 The urinary losartan to E3174 metabolic ratio after a 25-mg losartan dose was found to be a safe and useful phenotyping assay for CYP2C9 activity in vivo. CYP2C9*3 variant allele is a major determinant of the enzyme activity, and it decreases losartan metabolism significantly, while CYP2C9*2 allele has less impact on enzyme function.	Cohort 85 Turkish unrelated subjects 										
121019		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Aquilante, C. L.  et al. 2004	15222661				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacotherapy. 2004 Jun;24(6):720-6	Comparison of cytochrome P450 2C9 genotyping methods and implications for the clinical laboratory.		601130	16168	2	2004	 Compared with RFLP, genotype determination by Pyrosequencing is a more time-efficient, cost-effective, and robust method for CYP2C9 genotyping. Because of its wide applicability and ease of use, Pyrosequencing is a promising technology for future pharmacogenomic investigations.	Cohort 253 subjects participating in a warfarin pharmacogenomic study 										
121015	Y	acenocoumarol response	PHARMACOGENOMIC	PHARM	Blood Coagulation Disorders	10	10q24	CYP2C9	96688429	96739137		Schalekamp, T.  et al. 2004	15116052				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Netherlands	CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 May;75(5):394-402	Acenocoumarol stabilization is delayed in CYP2C93 carriers.		601130	16164	2	2004	 In carriers of the CYP2C9*3 allele more difficulties in terms of stabilization and overanticoagulation were found as compared with wild-type subjects or CYP2C9*2 carriers. CYP2C9 genotyping could be useful to identify potential candidates for more frequent INR controls to minimize problems with acenocoumarol anticoagulation status.	Cohort 231 subjects from 2 anticoagulation clinics the Netherlands 	acenocoumarol									
121016	Y	acenocoumarol response	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Morin, S.  et al. 2004	15116053				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 May;75(5):403-14	Pharmacogenetics of acenocoumarol pharmacodynamics.		601130	16165	2	2004	 Overall, CYP2C9-related genetic variability accounts for 14% of the interindividual variability in acenocoumarol pharmacodynamic response. The information found by haplotype analysis is mainly related to the CYP2C9*3 SNP.	Cohort 236 healthy volunteers 	acenocoumarol									
121017	Y	anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Ma, J. D.  et al. 2004	15145963				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of clinical pharmacology. 2004 Jun;44(6):570-6	Limited sampling strategy of S-warfarin concentrations, but not warfarin S/R ratios, accurately predicts S-warfarin AUC during baseline and inhibition in CYP2C9 extensive metabolizers.		601130	16166	2	2004	LSS using S-warfarin concentrations is an efficient and accurate technique to evaluate S-warfarin AUC(0- infinity ) when using warfarin as a CYP2C9 probe drug.	Cohort 51 healthy subjects 										
121012		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Kamali, F.  et al. 2004	15001972				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Mar;75(3):204-12	Contribution of age, body size, and CYP2C9 genotype to anticoagulant response to warfarin.		601130	16161	2	2004	 This study showed that age and CYP2C9 polymorphism affect warfarin dose requirements in patients receiving long-term therapy and having stable control of anticoagulation. It is anticipated that using dosing regimens modified to take into account the contribution of age and CYP2C9 genotype has the potential to improve the safety of warfarin therapy.	Cohort 121 patients with stable warfarin dose requirements and an international normalized ratio (INR) of the prothrombin time within the target range of 2.0 to 3.0 	warfarin									
121013		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Ablin, J.  et al. 2004	15066644	CYP2C9*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of internal medicine. 2004 Feb;15(1):22-27	Warfarin therapy is feasible in CYP2C9*3 homozygous patients.		601130	16162	2	2004	Dose requirement was correlated with CYP2C9 genotype and possibly affected by age and concurrent intake of interfering drugs. Prospective studies are needed to test the feasibility and cost effectiveness of using algorithms based on these parameters for adjusting initial warfarin dose to meet individual needs.	Cohort co patients who maintain stable anticoagulation on low or regular doses of warfarin 										
121009	N	platelet aggregation	HEMATOLOGICAL	HEM		10	10q24	CYP2C9	96688429	96739137		Van Dijk, K. N.  et al. 2004	14691574				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2004 Jan;91(1):95-101	Potential interaction between acenocoumarol and diclofenac, naproxen and ibuprofen and role of CYP2C9 genotype.		601130	16158	2	2004	The average increase in INR was between 1 and 4. Polymorphism of CYP2C9 does not seem to be a relevant risk factor for the NSAID-acenocoumarol interaction.	Cohort 112 patients who received both acenocoumarol and one of the NSAIDs 	acenocoumarol diclofenac ibuprofen naproxen									
121010		gastrointestinal bleeding	OTHER	OTH	Gastrointestinal Hemorrhage|Acute Disease|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Martinez, C.  et al. 2004	14707031				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of pharmacology. 2004 Jan;141(2):205-8	Genetic predisposition to acute gastrointestinal bleeding after NSAIDs use.		601130	16159	2	2004	The odds ratio for bleeding patients receiving CYP2C9 substrates (n=33) was 2.5 for heterozygous and 3.7 for homozygous carriers of mutations (P<0.015), suggesting that the inherited impairment of CYP2C9 activity increases the risk for severe adverse drug reactions after NSAIDs use.	Control:124 individuals receiving NSAIDs with no adverse:effects;Case:94 individuals with acute bleeding after NSAIDs use	nonsteroidal anti-inflammatory (NSAID)									
121006	Y	depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	10	10q24	CYP2C9	96688429	96739137		LLerena, A.  et al. 2003	14583800				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2003 ;3(5):300-2	CYP2C9 gene and susceptibility to major depressive disorder.		601130	16155	2	2003	The results suggest that CYP2C9 genetic polymorphism may be related to a major depressive disorder due to an alteration in endogenous metabolism, although a linkage between CYP2C9 and some other gene related to depression cannot be ruled out.	Control:138 healthy volunteers;Case:70 psychiatric outpatients suffering from major depressive disorder;Control:89 schizophenic patients										
121007		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Shikata, E.  et al. 2003	14656880				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Blood. 2004 Apr;103(7):2630-5	Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and gamma-glutamyl carboxylase) gene variants with warfarin sensitivity.		601130	16156	2	2003	These results suggest that part of the considerable inter-patient variation is attributable to genetic variation, and the combined genotyping of CYP2C9 and certain vitamin K-dependent protein genes is useful for predicting anticoagulant responses.	Cohort 45 patients 	warfarin									
121008		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Gage, B. F.  et al. 2004	14691573				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2004 Jan;91(1):87-94	Use of pharmacogenetics and clinical factors to predict the maintenance dose of warfarin.		601130	16157	2	2004	In conclusion, the maintenance warfarin dose can be estimated from demographic, clinical, and pharmacogenetic factors that can be obtained at the time of warfarin initiation.	Cohort 369 patients who were taking a maintenance dose of warfarin 	warfarin									
121003	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24	CYP2C9	96688429	96739137		Wen, S. Y.  et al. 2003	12800253				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			World journal of gastroenterology. 2003 Jun;9(6):1342-6	Rapid detection of the known SNPs of CYP2C9 using oligonucleotide microarray.		601130	16152	2	2003	 The oligonucleotide microarray made in this study is a reliable assay for detecting the CYP2C9 known alleles and the heterozygous CYP2C9*1/*3 has no significant effects on the therapeutic outcome of Irbesartan.	Cohort 62 high blood pressure patients who received Irbesartan 	irbesartan									
121004	N	phenytoin	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Yang, J. Q.  et al. 2003	12803577	P450 2C9			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese, French		CDC GDPinfo	1559	Hs.282624			Fundamental & clinical pharmacology. 2003 Jun;17(3):373-6	Frequency of cytochrome P450 2C9 allelic variants in the Chinese and French populations.		601130	16153	2	2003	The low frequency of the CYP2C9*2 and CYP2C9*3 allelic variants in Chinese subjects does not justify their detection in clinical practice, unlike French Caucasians.	Cohort 394/151 Chinese (n=394) and French Caucasians (n=151) Shanghai/Paris 										
121005	Y	acenocoumarol pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Thijssen, H. H.  et al. 2003	12844136				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2003 Jul;74(1):61-8	Acenocoumarol pharmacokinetics in relation to cytochrome P450 2C9 genotype.		601130	16154	2	2003	 The results show S-acenocoumarol pharmacokinetics to be dependent on CYP2C9 polymorphism. In particular, the presence of the CYP2C9*3 allele impairs oral clearance of the coumarin.	Cohort 26 healthy volunteers 	acenocoumarol									
121000		cardiovascular disease	CARDIOVASCULAR	CARD		10	10q24	CYP2C9	96688429	96739137		Daly, A. K.  et al. 2003	12724615				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2003 May;13(5):247-52	Pharmacogenetics of oral anticoagulants.		601130	16149	2	2003	Review article		anticoagulation									
121001	Y	anticoagulant complications	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Hummers-Pradier, E.  et al. 2003	12728288				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Jul;59(3):213-9	Determination of bleeding risk using genetic markers in patients taking phenprocoumon		601130	16150	2	2003	 CYP2C9*3 variants are associated with an increased bleeding risk in patients anticoagulated with phenprocoumon. Screening can identify patients with a high risk of bleeding. Appropriate clinical consequences (restricted indication for anticoagulation, careful induction, adjustment of target INR, closer monitoring or self-testing of INR) as well as the cost-effectiveness of screening for variant CYP2C9 with regard to patient outcomes should be subject of further research.	Cohort 185 adult anticoagulated patients in 12 teaching general practices and one university outpatient clinic 	phenprocoumon									
121002		diclofenac metabolism	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Dorado, P.  et al. 2003	12734606				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Spanish		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Jul;59(3):221-5	CYP2C9 genotypes and diclofenac metabolism in Spanish healthy volunteers.		601130	16151	2	2003	 The frequencies of CYP2C9*1, *2, and *3 alleles in the Spanish population reported here were similar to those found in the previously studied white European populations, and different of the previously reported in another Spanish population. CYP2C9*3 allele seems to influence the 4'-hydroxylation of diclofenac, although there is a large overlapping in the urinary metabolic ratio between the genotype groups studied	Cohort 102 healthy Spanish volunteers 	diclofenac									
120997		anticoagulant complications	METABOLIC	MET	Overdose|Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Verstuyft, C.  et al. 2003	12634980				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Mar;58(11):739-45	Genetic and environmental risk factors for oral anticoagulant overdose.		601130	16146	2	2003	 This is the first observational study investigating the role of CYP2C9 genetic polymorphism together with other environmental OA overdose risk factors. Our results support the view that although the CYP2C9*3/CYP2C9*3 genotype is associated soon after the introduction of OA with dramatic overanticoagulation, OA overdose is mostly related to environmental factors.	Case:75 consecutive patients with oral anticoagulant:overdose;Control:75 control patients										
120998	N	thioridazine plasma levels	PHARMACOGENOMIC	PHARM	Psychotic Disorders	10	10q24	CYP2C9	96688429	96739137		Berecz, R.  et al. 2003	12682803				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 May;59(1):45-50	Thioridazine steady-state plasma concentrations are influenced by tobacco smoking and CYP2D6, but not by the CYP2C9 genotype.		601130	16147	2	2003	 The results show that the plasma concentrations of thioridazine and its metabolites are influenced by tobacco smoking and the CYP2D6 genotype, and support the dose-dependent inhibition of CYP2D6 by thioridazine. CYP2C9 does not play an important role in thioridazine metabolism.	Cohort 76 Caucasian psychiatric patients receiving thioridazine monotherapy 	smoking (tobacco)									
120995	N	nonsteroidal anti-inflammatory response	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Brenner, S. S.  et al. 2003	12603175				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacokinetics. 2003 ;42(3):283-92	Influence of age and cytochrome P450 2C9 genotype on the steady-state disposition of diclofenac and celecoxib.		601130	16144	2	2003	 Age and CYP2C9 genotype do not significantly affect the steady-state disposition of celecoxib and diclofenac. This would indicate that both drugs need no dosage reduction in the elderly (at least up to 75 years) and that, besides CYP2C9, additional CYP species contribute to the elimination of both agents.	Cohort 12/12 young (n=12, age 32 +/- 5 years, bodyweight 71 +/- 12kg; mean +/- SD) and elderly (n=12, 68 +/- 2 years, 82 +/- 15kg) healthy, drug-free, nonsmoking Caucasians of both sexes 	celecoxib diclofenac									
120996	Y	blood and blood forming organ disorders	HEMATOLOGICAL	HEM		10	10q24	CYP2C9	96688429	96739137		Takahashi, H.  et al. 2003	12621390				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese		CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2003 Mar;73(3):253-63	Population differences in S-warfarin metabolism between CYP2C9 genotype-matched Caucasian and Japanese patients.		601130	16145	2	2003	 These findings indicate that population differences in the frequencies of known variant CYP2C9 alleles account only in part for the variability observed in in vivo CYP2C9 activity in different populations. In addition, a gene-dose effect of defective CYP2C9 alleles on the in vivo CYP2C9 activity is evident in Japanese patients but not in Caucasian patients. Further studies are required to identify currently unknown factor(s) (eg, transcriptional regulation) responsible for the large intrapopulation and interpopulation variability in CYP2C9 activity.	Cohort 90/47 Japanese (n=90) and Caucasian (n=47) patients receiving maintenance warfarin therapy 	warfarin									
120993		myocardial infarct	CARDIOVASCULAR	CARD		10	10q24	CYP2C9	96688429	96739137		Yasar, U.  et al. 2002	12451434				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2002 Nov;58(8):555-8	Analysis of CYP2C9*5 in Caucasian, Oriental and black-African populations.		601130	16142	2	2002	 The CYP2C9*5 allele was analysed using a polymerase chain reaction-based endonuclease method, and it was found in three Tanzanians (allele frequency, 0.0082) but not in Ethiopians, Caucasians or Orientals.	Cohort 150/183/200/150 150 Ethiopians, 183 Tanzanians, 200 Caucasians from Sweden and 150 Orientals from Korea 										
120994	N	diclofenac pharmacokinetics and pharmacodynamics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2003	12534640				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2003 Jan;55(1):51-61	Pharmacokinetics of diclofenac and inhibition of cyclooxygenases 1 and 2: no relationship to theCYP2C9 genetic polymorphism in humans		601130	16143	2	2003	 Polymorphisms of the CYP2C9 gene had no discernible effect on the pharmacokinetics and pharmacodynamics of diclofenac. The question of whether enzymes other than CYP2C9 play a major role in diclofenac 4'-hydroxylation in vivo or whether 4'-hydroxylation is not a rate-limiting step in diclofenac elimination in vivo, or whether the effect of the CYP2C9 polymorphisms is substrate-dependent, needs further investigation.	Cohort 20 of 516 healthy volunteers selected for all allelic combinations of the two CYP2C9 variants Arg144Cys (*2) and Ile359Leu (*3) 	diclofenac									
120990	Y	anticoagulant complications	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Tassies, D.  et al. 2002	12414349				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Haematologica. 2002 Nov;87(11):1185-91	Pharmacogenetics of acenocoumarol: cytochrome P450CYP2C9 polymorphisms influence dose requirements and stability of anticoagulation.		601130	16139	2	2002	 CYP2C9*3 is related to lower acenocoumarol dose requirements, a higher frequency of over-anticoagulation at the initiation of therapy and an unstable anticoagulant response.	Cohort 325/84 acenocoumarol-treated patients (INR target between 2.0 and 3.0) (n=325) and in an additional group of patients with repeated bleeding (n=84) 	acenocoumarol									
120991		CYP2C9 activity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Lee, C. R.  et al. 2002	12426520				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2002 Nov;72(5):562-71	Evaluation of cytochrome P4502C9 metabolic activity with tolbutamide in CYP2C91 heterozygotes.		601130	16140	2	2002	 CYP2C9 activity was significantly reduced in (*)1 heterozygotes compared with (*)1 homozygotes, and metabolism was more severely impaired in (*)1/(*)3 individuals compared with those expressing (*)1/(*)2.	Cohort 15 healthy individuals 										
120992		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Burian, M.  et al. 2002	12445031				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2002 Nov;54(5):518-21	Validation of a new fluorogenic real-time PCR assay for detection of CYP2C9 allelic variants and CYP2C9 allelic distribution in a German population.		601130	16141	2	2002	 This assay is simple and rapid and may be used for CYP2C9-genotyping in a clinical setting.	Cohort 118 DNA samples 										
120987	Y	gastrointestinal bleeding	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Niemi, M.  et al. 2002	12235454				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2002 Sep;72(3):326-32	Glyburide and glimepiride pharmacokinetics in subjects with different CYP2C9 genotypes.		601130	16136	2	2002	 Genetic polymorphisms of CYP2C9 markedly affect the pharmacokinetics of both glyburide and glimepiride. The influence of the CYP2C9*3 variant allele on glyburide and glimepiride pharmacokinetics may be clinically significant.	Cohort 29 healthy volunteers 	glimepirideglyburide									
120988		blood pressure	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	10	10q24	CYP2C9	96688429	96739137		Hallberg, P.  et al. 2002	12359989				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Sweden	CDC GDPinfo	1559	Hs.282624			Journal of hypertension. 2002 Oct;20(10):2089-93	The CYP2C9 genotype predicts the blood pressure response to irbesartan: results from the SwedishIrbesartan Left Ventricular Hypertrophy Investigation vs Atenolol (SILVHIA) trial.		601130	16137	2	2002	 The CYP2C9 genotype seems to predict the DBP response to irbesartan, but not to atenolol, in patients with essential hypertension.	Cohort 102 patients with essential hypertension and left ventricular hypertrophy were allocated randomly to groups to receive double-blind treatment with either irbesartan ( = 49) or the beta -adrenergic receptor blocker, atenolol ( = 53) 	atenolol irbesartan									
120989		hypertension	CARDIOVASCULAR	CARD		10	10q24	CYP2C9	96688429	96739137		Xie, H. G.  et al. 2002	12406644				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Advanced drug delivery reviews. 2002 Nov;54(10):1257-70	CYP2C9 allelic variants: ethnic distribution andfunctional significance.		601130	16138	2	2002												
120984	N	lung cancer	CANCER	CAN	Lung Neoplasms	10	10q24	CYP2C9	96688429	96739137		Garcia-Martin, E.  et al. 2002	11911968				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Cancer letters. 2002 Jun;180(1):41-6	Influence of cytochrome P450 CYP2C9 genotypes in lung cancer risk.		601130	16133	2	2002	Association between CYP2C9 polymorphism and lung cancer risk was not identified in this study.	Case:104 lung cancer patients;Control:197 healthy controls										
120986		acenocoumarol, sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Hermida, J.  et al. 2002	12010835				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Blood. 2002 Jun;99(11):4237-9	Differential effects of 2C9*3 and 2C9*2 variants of cytochrome P-450 CYP2C9 on sensitivity to acenocoumarol		601130	16135	2	2002	Because acenocoumarol sensitivity with the 2C9*2 variant does not seem to be clinically relevant, the drug could be an alternative to warfarin in 2C9*2 carriers.	Cohort patients using acenocoumarol, divided into three goups- low, medium and high dose requirements 	acenocoumarol									
120981		gastrointestinal bleeding	OTHER	OTH		10	10q24	CYP2C9	96688429	96739137		Garcia-Martin, E.  et al. 2001	11372590				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2001 Apr;57(1):47-9	High frequency of mutations related to impaired CYP2C9 metabolism in a Caucasian population.		601130	16130	2	2001	 In some Caucasian populations the impact of the CYP2C9 polymorphism may be much higher than that estimated from genotyping studies published to date.	Cohort 157 healthy subjects Spain 										
120982	N	gastric ulceration	OTHER	OTH	Stomach Ulcer	10	10q24	CYP2C9	96688429	96739137		Martin, J. H.  et al. 2001	11422024				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2001 Jun;51(6):627-30	Is cytochrome P450 2C9 genotype associated with NSAID gastric ulceration?		601130	16131	2	2001	 These results do not support the hypothesis that gastric ulceration resulting from NSAID usage is linked to the poor metabolizing genotypes of CYP2C9.	Case:23 people with a history of gastric ulceration attributed to NSAIDs;Control:32 people on NSAIDs without gastropathy	nonsteroidal anti-inflammatory (NSAID)									
120978	Y	warfarin sensitivity	METABOLIC	MET	Cardiovascular Diseases	10	10q24	CYP2C9	96688429	96739137		Yuan, H. Y.  et al. 2005	15888487			promoter	Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			Human molecular genetics. 2005 Jul;14(13):1745-51	A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.		601130	14770	2	2005	The promoter polymorphism abolished an E-box consensus sequences and dual luciferase assay revealed that VOKRC1 promoter with the G allele had a 44% increase of activity compared to the A allele. The differences in allele frequencies of A/G allele and its levels of VKORC1 promoter activity may underscore the inter-individual differences in warfarin dosage as well as inter-ethnic differences between Chinese and Caucasians.	Control:104/95/92 randomly selected Chinese patients receiving warfarin (n=104), normal Chinese controls (n=95) and normal Caucasian controls (n=92);Case:16 Chinese patients having warfarin sensitivity (=1.5 mg/d, n=11) or resistance (=6.0 mg/d, n=5)										
120979		warfarin therapy, response to	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Sconce, E. A.  et al. 2005	15947090				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Blood. 2005 Oct;106(7):2329-33	The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a newdosing regimen.		601130	14771	2	2005												
120976		sulphamethoxazole hypersensitivity	PHARMACOGENOMIC	PHARM	HIV Seropositivity|Hypersensitivity	10	10q24	CYP2C9	96688429	96739137		Pirmohamed, M.  et al. 2000	11186133				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2000 Nov;10(8):705-13	Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity		601130	10939	2	2000	Our results show that genetic polymorphisms in drug metabolizing enzymes are unlikely to be major predisposing factors in determining individual susceptibility to co-trimoxazole hypersensitivity in HIV-positive patients.	Case:56 HIV-positive patients with SMX hypersensitivity;Control:89 HIV-positive patients without SMX hypersensitivity	co-trimoxazole									
120977		cutaneous reactions to sulfonamides	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Drug Hypersensitivity	10	10q24	CYP2C9	96688429	96739137		Wolkenstein, P.  et al. 2005	16297214				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The Journal of investigative dermatology. 2005 Nov;125(5):1080-2	Association analysis of drug metabolizing enzyme gene polymorphisms in AIDS patients with cutaneous reactions to sulfonamides.		601130	10991	2	2005												
120973		tolbutamide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Li, J.  et al. 2005	16268502				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Yao xue xue bao. 2005 Aug;40(8):695-9	[Influence of cytochrom P450 CYP2C9 polymorphism on the pharmacokinetics of tolbutamide metabolism using oligonucleotide genotyping microarray]		601130	9955	2	2005	 CYP2C9 genetic polymorphism has a significant influence on the pharmacokinetics of tolbutamide. Pharmacogenomic study will be helpful in guiding rational and individualized medication. Key words: tolbutamide; cytochrom P450 CYP2C9; allele; single nucleotide polymorphism; genotyping											
120974		glimepiride pharmacokinetics	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	10	10q24	CYP2C9	96688429	96739137			16325295				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Diabetes research and clinical practice. 2005	Effect of CYP2C9 genetic polymorphisms on the efficacy and pharmacokinetics of glimepiride in subjects with type 2 diabetes		601130	9956	2	2005												
120975	Y	hypoglycemia	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2004	15005635				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacokinetics. 2004 ;43(4):267-78	Influence of CYP2C9 and CYP2D6 polymorphisms on the pharmacokinetics of nateglinide in genotyped healthy volunteers.		601130	9967	2	2004	 The effect of CYP2C9 polymorphisms on nateglinide kinetics may cause a slightly increased risk for hypoglycaemia, which may become relevant in diabetic patients.	Cohort 26 healthy volunteers chosent for their CYP2C9 and CYP2D6 genotype 	nateglinide									
120971		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Mas, S.  et al. 2005	16082538				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Spanish		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2005 Oct;61(9):635-41	Simultaneous genotyping of CYP2C9*2, *3, and 5' flanking region (C-1189T) polymorphisms in a Spanish population through a new minisequencing multiplex single-base extension analysis.		601130	9953	2	2005	 Our results confirm previously reported Caucasian frequencies for the CYP2C9*2 and *3 alleles and, for the first time, provide data on the frequency of the CYP2C9 5' flanking region (C-1189T), a recently described polymorphism, in a Spanish population. The SBE technique detects unequivocally the three polymorphisms in a single reaction, which makes it suitable for the analysis of CYP2C9 in the many therapeutic situations in which it is involved.											
120972		acenocoumarol response	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Bae, J. W.  et al. 2005	16187974				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Korean		CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2005 Oct;60(4):418-22	Allele and genotype frequencies of CYP2C9 in a Korean population.		601130	9954	2	2005	 The frequency of the CYP2C9*3 allele in the Korean population studied was significantly higher than reported elsewhere, and a novel allele, CYP2C9*13, was found at a frequency of 0.006 (95% confidence interval 0, 0.012). Only three genotypes of CYP2C9, CYP2C9*1/*1,*1/*3 and *1/*13 were observed in this Korean population.											
120967		warfarin therapy, response to	PHARMACOGENOMIC	PHARM	Body Weight	10	10q24	CYP2C9	96688429	96739137		Herman, D.  et al. 2005	15824753				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			The pharmacogenomics journal. 2005 ;5(3):193-202	Influence of CYP2C9 polymorphisms, demographic factors and concomitant drug therapy on warfarin metabolism and maintenance dose.		601130	9949	2	2005	These results can serve as a starting point for designing prospective studies in patients in the initiation phase of genotype-based warfarin therapy.	Cohort 189 patients on warfarin therapy 										
120968		tolbutamide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Chen, K.  et al. 2005	15896241				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			Journal of clinical pharmacy and therapeutics. 2005 Jun;30(3):241-9	Relationship of P450 2C9 genetic polymorphisms in Chinese and the pharmacokinetics of tolbutamide.		601130	9950	2	2005	 The P450 2C9 activity was significantly reduced in *1 heterozygotes compared with *1 homozygotes, and the metabolism of tolbutamide was more severely impaired in *3/*3 individuals compared with those expressing *1/*3. Using tolbutamide as a P450 2C9 probe, P450 2C9 genotype was the major determinant of P450 2C9 phenotype.	Cohort 20 healthy individuals expressing the P450 2C9*1/*1, *1/*3 and *3/*3 genotypes 										
120969		warfarin therapy, response to	PHARMACOGENOMIC	PHARM	Thrombosis	10	10q24	CYP2C9	96688429	96739137		Sirotkina, O. V.  et al. 2005	15940194				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Kardiologiia. 2005 ;45(4):61-63	[Clinical Value of Allele Variants of Cytochrome CYP2C9 gene for Anticoagulation Therapy With Warfarin.]		601130	9951	2	2005												
120964		torsemide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Vormfelde, S. V.  et al. 2004	15592327				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Dec;76(6):557-66	CYP2C9 polymorphisms and the interindividual variability in pharmacokinetics and pharmacodynamics of the loop diuretic drug torsemide.		601130	9946	2	2004	 Torsemide pharmacokinetics differed significantly between subgroups with different CYP2C9 genotypes, and diuretic effects were slightly more exaggerated in carriers of CYP2C9*3 alleles. To answer the question of whether these findings have clinical implications, further studies in patients undergoing long-term torsemide treatment are required.	Cohort 36 healthy volunteers 										
120965		coagulation disorder	HEMATOLOGICAL	HEM		10	10q24	CYP2C9	96688429	96739137		King, B. P.  et al. 2004	15608560				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2004 Dec;14(12):813-22	Upstream and coding region CYP2C9 polymorphisms:correlation with warfarin dose and metabolism		601130	9947	2	2004	 The coding region non-synonymous polymorphisms associated with the CYP2C9*2 and CYP2C9*3 alleles are the major CYP2C9-related factor affecting warfarin dose in UK Caucasians. Upstream CYP2C9 polymorphisms do not appear to be important independent determinants of dose requirement.	Cohort 20 Caucasian patients requiring UK 										
120966		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Lee, S. S.  et al. 2005	15795654				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Vietnamese		CDC GDPinfo	1559	Hs.282624			Therapeutic drug monitoring. 2005 Apr;27(2):208-10	Genetic polymorphism of CYP2C9 in a Vietnamese Kinh population.		601130	9948	2	2005	These results suggest that CYP2C9*2 may be absent in Vietnamese Kinh population and that CYP2C9*3 is major allelic variant that causes interindividual variation of drug responses to CYP2C9 substrate drugs in the Vietnamese Kinh population.	Cohort 157 Vietnamese subjects Vietnam 										
120961	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	10	10q24	CYP2C9	96688429	96739137		Chan, A. T.  et al. 2004	15290664				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical gastroenterology and hepatology. 2004 Aug;2(8):704-12	A prospective study of genetic polymorphisms in the cytochrome P-450 2C9 enzyme and the risk for distal colorectal adenoma.		601130	9943	2	2004	 Polymorphisms in the CYP2C9 enzyme are associated with elevated risk for colorectal adenoma. This observation does not appear to be related to modification of the effect of aspirin on adenoma risk, but may be associated with differential metabolism of environmental carcinogens.	Case:394 colorectal cancer cases;Control:396:controls	smoking (tobacco)									
120962	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24	CYP2C9	96688429	96739137		Yu, B. N.  et al. 2004	15369736				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese	China	CDC GDPinfo	1559	Hs.282624			Clinica chimica acta; international journal of clinical chemistry. 2004 Oct;348(2-Jan):57-61	CYP2C9 allele variants in Chinese hypertension patients and healthy controls		601130	9944	2	2004	 To our knowledge, this is the first report on CYP2C9 frequencies in hypertension patients. Our study implied that CYP2C9*3 had a secondary protective effect in females, which may be useful for studying hypertension pathogenesis and therapeutics.	Case:239 hypertensive patients;Control:265 healthy controls										
120958		coagulation disorder	HEMATOLOGICAL	HEM	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Joffe, H. V.  et al. 2004	15175798				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2004 Jun;91(6):1123-8	Warfarin dosing and cytochrome P450 2C9 polymorphisms.		601130	9940	2	2004	In conclusion, CYP2C9*2 or *3 compound heterozygotes and homozygotes have low warfarin requirements even after excluding liver disease, excessive alcohol or acetaminophen consumption, low body weight, advancing age, and drug interactions. These polymorphisms increase the rate of excessive anticoagulation, but this risk does not appear to be associated with higher bleeding rates when anticoagulation status is closely monitored.	Cohort 73 patients with stable warfarin doses for >/=1 month and International Normalized Ratios (INR) of 2.0-3.0 	warfarin									
120959		anticoagulant complications	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Visser, L. E.  et al. 2004	15213846				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2004 Jul;92(1):61-6	The risk of bleeding complications in patients with cytochrome P450 CYP2C9*2 or CYP2C9*3 alleles on acenocoumarol or phenprocoumon.		601130	9941	2	2004	Although one might consider the assessment of the CYP2C9 genotype of a patient for dose adjustment before starting treatment with acenocoumarol, a prospective randomised trial should demonstrate whether this reduces the increased risk of major bleeding events.	Cohort 996 subjects from a population-based cohort in a sample of the Rotterdam Study 	acenocoumarol phenprocoumin									
120960		acenocoumarol, sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Blaisdell, J.  et al. 2004	15284535				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2004 Aug;14(8):527-37	Discovery of new potentially defective alleles of human CYP2C9		601130	9942	2	2004	Further clinical studies are needed to determine the effect of these new polymorphisms on the metabolism of CYP2C9 substrates.	Cohort 92 individuals from three different racial groups 										
120956		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Takahashi, H.  et al. 2004	15070684				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese		CDC GDPinfo	1559	Hs.282624			Blood. 2004 Apr;103(8):3055-7	5'-Flanking region polymorphisms of CYP2C9 and their relationship to S-warfarin metabolism in white and Japanese patients.		601130	9938	2	2004	In conclusion, either unidentified polymorphisms further upstream in the promoter region or environmental factor(s) account for the differences in the warfarin doses between whites and Japanese.	Cohort 22/38 with (n=22) and Japanese (n=38) patients whose unbound oral clearance of S-warfarin had been previously determined 	warfarin									
120957		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Visser, L. E.  et al. 2004	15128048				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2004 Jan;14(1):27-33	The risk of overanticoagulation in patients with cytochrome P450 CYP2C9*2 or CYP2C9*3 alleles on acenocoumarol or phenprocoumon.		601130	9939	2	2004	A clear genotype-dose relationship was found for acenocoumarol-treated patients. For patients on phenprocoumon, no significant differences were found between variant genotypes and the wild-type genotype. Individuals with one or more CYP2C9*2 or CYP2C9*3 allele(s) require a significantly lower dose of acenocoumarol compared to wild-type patients. Phenprocoumon appears to be a clinically useful alternative in patients carrying the CYP2C9*2 and *3 alleles.	Cohort 1,124 patients from the Rotterdam Study who were treated with acenocoumarol or phenprocoumon 	acenocoumarol phenprocoumon									
120953		cutaneous adverse drug reaction	OTHER	OTH	Drug Eruptions	10	10q24	CYP2C9	96688429	96739137		Lee, A. Y.  et al. 2004	15024534				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2004 May;60(3):155-9	Genetic polymorphism of cytochrome P450 2C9 in diphenylhydantoin-induced cutaneous adverse drug reactions.		601130	9935	2	2004	 A CYP2C9*3 variant could play a role in the proportion of patients with DPH-induced CADRs that differ from patients with DPH-induced CADRs showing positive patch-test results.	Case:10 patients with diphenylhydantoin-induced cutaneous adverse drug reactions;Control:39 neurological patients without diphenylhydantoin-induced cutaneous adverse drug reactions (n=39) and non-exposed controls;Control:40/58 diphenylhydantoin-exposed (n=40) and non-exposed:controls (n=58)	diphenylhydantoin									
120954		warfarin therapy, response to	PHARMACOGENOMIC	PHARM	Thrombosis	10	10q24	CYP2C9	96688429	96739137		Siguret, V.  et al. 2004	15050794				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Rev Med Interne. 2004 Apr;25(4):271-4	[Cytochrome P450 2C9 polymorphisms (CYP2C9) and warfarin maintenance dose in elderly patients]		601130	9936	2	2004	 In elderly patients, a genetic influence on response to warfarin does exist as in younger patients.	Cohort 126 patients on warfarin maintenance 	warfarin									
120950		acenocoumarol response	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Adithan, C.  et al. 2003	14504850				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Indian		CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Nov;59(9-Aug):707-9	Allele and genotype frequency of CYP2C9 in Tamilnadu population.		601130	9932	2	2003	 CYP2C9*3 is the most frequent mutant allele found in the Tamilian population. The distribution of this mutant allele in the Tamilian population was found to be lesser than in Caucasians but higher than in Chinese.	Cohort 135 unrelated Tamilian healthy human volunteers Tamilnadu 										
120951	N	coagulation disorder	HEMATOLOGICAL	HEM		10	10q24	CYP2C9	96688429	96739137		Lee, S.  et al. 2003	14661864				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Korean		CDC GDPinfo	1559	Hs.282624			Archives of pharmacal research. 2003 Nov;26(11):967-72	Polymorphism in CYP2C9 as a non-critical factor of warfarin dosage adjustment in Korean patients.		601130	9933	2	2003	In conclusion, polymorphism in CYP2C9 is not a critical factor for assessing warfarin dose requirement and risk of bleeding complications in a Korean population.	Cohort Patients on warfarin therapy for longer than 1 year Jul 1999-Dec 2000 	warfarin									
120952		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Takahashi, H.  et al. 2003	15070684				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese		CDC GDPinfo	1559	Hs.282624			Blood. 2004 Apr;103(8):3055-7	5'-Flanking region polymorphisms of CYP2C9 and their relationship to S-warfarin metabolism in Caucasian and Japanese patients		601130	9934	2	2003	In conclusion, either unidentified polymorphisms further upstream in the promoter region or environmental factor(s) account for the differences in the warfarin doses between Caucasians and Japanese.	Cohort 22/38 Caucasian (n=22) and Japanese (n=38) patients whose unbound oral clearance of S-warfarin had been previously determined 										
120947		lipids	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2003	12891229				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2003 Aug;74(2):186-94	Influence of CYP2C9 polymorphisms on the pharmacokinetics and cholesterol-lowering activity of (-)-3S,5R-fluvastatin and (+)-3R,5S-fluvastatin in healthy volunteers.		601130	9929	2	2003	 The pharmacokinetics of both enantiomers of fluvastatin depended on the CYP2C9 genotype, with a 3-fold group mean difference in the active enantiomer and even greater differences in the inactive enantiomer, but differences in plasma concentrations were not reflected in cholesterol lowering after 14 days of fluvastatin intake in healthy volunteers.	Cohort 26 healthy individuals 	fluvastatin									
120949		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Zainuddin, Z.  et al. 2003	14500040				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinica chimica acta; international journal of clinical chemistry. 2003 Oct;336(2-Jan):97-102	A simple method for the detection of CYP2C9 polymorphisms: nested allele-specific multiplexpolymerase chain reaction.		601130	9931	2	2003	 This is the first nested allele-specific multiplex PCR method reported to allow for the simultaneously detection of five CYP2C9 alleles.	Cohort 40 unrelated healthy Malaysian Indian volunteers 										
120944	Y	warfarin therapy, response to	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Tabrizi, A. R.  et al. 2002	11893129				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of the American College of Surgeons. 2002 Mar;194(3):267-73	The frequency and effects of cytochrome P450 (CYP) 2C9 polymorphisms in patients receiving warfarin.		601130	9926	2	2002	 CYP2C9 polymorphisms are common, associated with significant reductions in warfarin dose, and partly account for interpatient variability in warfarin sensitivity. As interactions between genetic factors and other variables that influence warfarin effect are more completely understood, CYP analysis may prove a useful adjunct for increasing the safety and efficacy of this agent.	Cohort Patients requiring chronic anticoagulation with warfarin sodium (warfarin) were recruited over an 11-month period from the inpatient and outpatient divisions of a tertiary care medical center in this prospective observational study. US 6/1999-5/2000 	warfarin									
120945		seizures; thrombosis, deep vein	NEUROLOGICAL	NEUR		10	10q24	CYP2C9	96688429	96739137		Lee, C. R.  et al. 2002	11927841				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2002 Apr;12(3):251-63	Cytochrome P450 2C9 polymorphisms: a comprehensivereview of the in-vitro and human data.		601130	9927	2	2002	Review article		diclofenac losartan phentoin tolbutamide warfarin									
120941	Y	warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Leung, A. Y.  et al. 2001	11588061				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			Blood. 2001 Oct;98(8):2584-7	Genetic polymorphism in exon 4 of cytochrome P450 CYP2C9 may be associated with warfarin sensitivity in Chinese patients.		601130	9923	2	2001	In conclusion, Chinese patients showed genetic polymorphisms of CYP2C9 in exon 4 and at codon 208; most were heterozygous Leu208Val and homozygous Val208. Homozygous Leu208, a common allele in Caucasians, is uncommon in this cohort. The significance of these CYP2C9 polymorphic alleles remains to be determined. (Blood.	Cohort 89 Chinese patients receiving warfarin 	warfarin									
120942		warfarin sensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Scordo, M. G.  et al. 2001	11678789				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2001 Oct;52(4):447-50	Genetic polymorphism of cytochrome P450 2C9 in a Caucasian and a black African population.		601130	9924	2	2001	 Our results indicate that the Ethiopian population has a unique relative distribution of the CYP2C9 alleles, which is not similar to any other ethnic group hitherto described.	Cohort 150 Ethiopians from an Ethiopian population Cohort 157 Italians from an Italian population 										
120938		phenytoin	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Yoon, Y. R.  et al. 2001	11298075				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Korean		CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2001 Mar;51(3):277-80	Frequency of cytochrome P450 2C9 mutant alleles in a Korean population.		601130	9920	2	2001	 CYP2C9*3 seems to be an allelic variant related to the functional polymorphism of CYP2C9, but this variant is rarely seen among Koreans compared with Caucasians. Routine genotyping of the CYP2C9*2 allele is considered to be unnecessary in Korean and East Asians, because this allele appears to be extremely rare or absent in these populations.	Cohort 574 subjects Korea 										
120940	Y	phenytoin metabolism	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Shintani, M.  et al. 2001	11503012				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2001 Aug;70(2):175-82	Genetic polymorphisms and functional characterization of the 5'-flanking region of the human CYP2C9 gene: in vitro and in vivo studies.		601130	9922	2	2001	 In addition to the two major mutations in the coding region (CYP2C9*2 and CYP2C9*3 ), mutations in the 5'-flanking region of the human CYP2C9 gene appear to contribute to the large interindividual variability in drug metabolism activity.	Case:133 adult epileptic patients;Control:50 healthy volunteers										
120935		candesartan	OTHER	OTH	Heart Failure|Hypertension	10	10q24	CYP2C9	96688429	96739137		Uchida S 2003	14586391				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			KGB	1559	Hs.282624			Clinical pharmacology and therapeutics. 2003 Nov;74(5):505-8	Altered pharmacokinetics and excessive hypotensive effect of candesartan in a patient with the CYP2C91/3 genotype.		601130	1610	1	2003												
120936		lung cancer; liver cancer	CANCER	CAN		10	10q24	CYP2C9	96688429	96739137		Bozina N 2003	12950145				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	croatian		KGB	1559	Hs.282624			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9, CYP2C19, and CYP2D6 in Croatian population.		601130	1611	1	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia										
120937	Y	warfarin therapy	PHARMACOGENOMIC	PHARM	Hemorrhage	10	10q24	CYP2C9	96688429	96739137	<.001	Higashi MK 2002	11926893	CYP2C9*2 and CYP2C9*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			KGB	1559	Hs.282624	anticoagulation-related outcomes during warfarin therapy		JAMA. 2002 Apr;287(13):1690-8	Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy.		601130	1612	1	2002	 The results of our study suggest that the CYP2C9*2 and CYP2C9*3 polymorphisms are associated with an increased risk of overanticoagulation and of bleeding events among patients in a warfarin anticoagulation clinic setting, although small numbers in some cases would suggest the need for caution in interpretation. Screening for CYP2C9 variants may allow clinicians to develop dosing protocols and surveillance techniques to reduce the risk of adverse drug reactions in patients receiving warfarin.	Cohort 200 patients receiving long-term warfarin therapy for various indications April 1990-May, 2001										
120932		repaglinide pharmacokinetics	OTHER	OTH		10	10q23.33	CYP2C8	96786518	96819244		Niemi, M.  et al. 2005	15961978				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinical pharmacology and therapeutics. 2005 Jun;77(6):468-78	Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics.		601129	20993	2	2005	 Genetic polymorphism in SLCO1B1 is a major determinant of interindividual variability in the pharmacokinetics of repaglinide. The effect of SLCO1B1 polymorphism on the pharmacokinetics of repaglinide may be clinically important.											
120934	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24	CYP2C9	96688429	96739137		Martinez C et al. 2001	11470765				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			KGB	1559	Hs.282624			Carcinogenesis. 2001 Aug;22(8):1323-6	Association of CYP2C9 genotypes leading to high enzyme activity and colorectal cancer risk.		601130	1609	1	2001	We conclude that  CYP2C9 polymorphism can be considered as a secondary risk factor for colorectal cancer in the studied population: those individuals with genotypes leading to high enzyme activity were at increased risk. The association of the CYP2C9 polymorphism to colorectal cancer risk could be related to CYP2C9-mediated metabolic activation of polycyclic aromatic hydrocarbons and heterocyclic aromatic amines. In addition, the key role of CYP2C9 in the metabolic inactivation of non-steroidal anti- inflammatory drugs could diminish the protective effect of these drugs against colorectal cancer.											
120929		repaglinide pharmacology	PHARMACOGENOMIC	PHARM	Malaria, Falciparum	10	10q23.33	CYP2C8	96786518	96819244			16359408				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3		Ghana	CDC GDPinfo	1558	Hs.282871			Tropical medicine & international health. 2005 Dec;10(12):1271-3	Short communication: high prevalence of thecytochrome P450 2C8*2 mutation in Northern Ghana		601129	16128	2	2005												
120930		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Ovarian Neoplasms|Thrombocytopenia|Leukopenia|Nausea|Vomiting	10	10q23.33	CYP2C8	96786518	96819244		Nakajima, M.  et al. 2005	15901749				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Japanese	Japan	CDC GDPinfo	1558	Hs.282871			Journal of clinical pharmacology. 2005 Jun;45(6):674-82	Pharmacokinetics of paclitaxel in ovarian cancer patients and genetic polymorphisms of CYP2C8, CYP3A4, and MDR1.		601129	20991	2	2005	Genotyping of the CYP2C8, CYP3A4, and MDR1 genes might not be essential to predict adverse effects of paclitaxel in Japanese patients, although an allelic variant of MDR1 may functionally affect the pharmacokinetics of its metabolite.	Cohort Japanese ovarian cancer patients 										
120931		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q23.33	CYP2C8	96786518	96819244		Henningsson, A.  et al. 2005	16299241				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinical cancer research. 2005 Nov;11(22):8097-104	Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel.		601129	20992	2	2005	 This study indicates that the presently evaluated variant alleles in the CYP2C8, CYP3A4, CYP3A5, and ABCB1 genes do not explain the substantial interindividual variability in paclitaxel pharmacokinetics.											
120926	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q23.33	CYP2C8	96786518	96819244		Yasar, U.  et al. 2003	14646690				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3		Sweden	CDC GDPinfo	1558	Hs.282871			Pharmacogenetics. 2003 Dec;13(12):715-20	Allelic variants of cytochromes P450 2C modify the risk for acute myocardial infarction.		601129	16125	2	2003	Possession of rare genetic variants of the CYP2C8 and CYP2C9 genes in females is associated with a modest increase in risk of AMI. This might be related to genetic differences in the formation of endogenous vasoregulating eicosanoids.	Case:1,172 acute myocardial infarction cases who participated in the Stockholm Heart Epidemiology Program (SHEEP);Control:1,503 controls (matched by age, sex and residential area) who participated in the Stockholm Heart Epidemiology Program (SHEEP)										
120927		malaria, plasmodium falciparum	INFECTION	INF	Genetic Predisposition to Disease	10	10q23.33	CYP2C8	96786518	96819244		Weise, A.  et al. 2004	15074466				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinical laboratory. 2004 ;50(4-Mar):141-8	Development and evaluation of a rapid and reliable method for cytochrome P450 2C8 genotyping		601129	16126	2	2004	In conclusion, the elaborated protocol for real-time PCR analysis of gene mutations CYP2C8*2, *3, and *4 is reliable and cost effective, and thus, suitable for routine laboratory use.	Cohort 122 Caucasian subjects (56 male, 66 female, age (mean 										
120928		visual disorder	INFECTION	INF		10	10q23.33	CYP2C8	96786518	96819244		Muthiah, Y. D.  et al. 2004	15469873				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinica chimica acta; international journal of clinical chemistry. 2004 Nov;349(2-Jan):191-8	A simple multiplex PCR method for the concurrent detection of three CYP2C8 variants.		601129	16127	2	2004	 We have successfully developed and optimized a multiplex PCR method suitable for use in population studies of CYP2C8 polymorphism.	Cohort 57 healhy Malaysian volunteers 										
120923	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q23.33	CYP2C8	96786518	96819244		King, L. M.  et al. 2005	15864120				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Caucasian		CDC GDPinfo	1558	Hs.282871			Pharmacogenetics and genomics. 2005 Jan;15(1):13-Jul	Single nucleotide polymorphisms in the CYP2J2 and CYP2C8 genes and the risk of hypertension.		601129	9991	2	2005	This study provides evidence for an association between CYP2J2*7 genotype and hypertension in Caucasian males and Caucasians without a family history of hypertension, but suggests no association between CYP2C8*3 genotype and hypertension. Confirmation of these findings in additional populations is warranted.	Control normotensive individuals;Case individuals with hypertension:Tennessee	family history									
120925	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	10	10q23.33	CYP2C8	96786518	96819244		McGreavey, L. E.  et al. 2005	16141797				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Pharmacogenetics and genomics. 2005 Oct;15(10):713-21	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.		601129	14666	2	2005	 Our study confirmed the reduction in risk of colorectal cancer with regular NSAID use (odds ratio (OR) = 0.73, 95% confidence interval (CI) (0.56, 0.95)) but showed that none of the polymorphic genes studied appeared to modify the protective effect of regular NSAID use.		nonsteroidal anti-inflammatory (NSAID)									
120920		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	10	10q23.33	CYP2C8	96786518	96819244		Cavaco, I.  et al. 2005	15785959				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3		Tanzania	CDC GDPinfo	1558	Hs.282871			European journal of clinical pharmacology. 2005 Mar;61(1):15-8	CYP2C8 polymorphism frequencies among malaria patients in Zanzibar.		601129	9917	2	2005	 CYP2C8 non-wild type alleles have a significant prevalence in the East African population studied. The consequent frequency of 3.6% of patients homozygous for slow metabolizer alleles represent a significant fraction of the population potentially in higher risk of adverse effects due to a less efficient metabolism of amodiaquine. As approximately 10(6) first-line treatments are currently performed in Zanzibar per year, this represents a non-negligible absolute number of amodiaquine exposures. This information constitutes a background for the pharmacovigilance programs presently being employed in Zanzibar.	Cohort 165 unrelated malaria patients Zanzibar 										
120922		repaglinide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244			16390351				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			British journal of clinical pharmacology. 2006 Jan;61(1):49-57	The impact of CYP2C8 polymorphism and grapefruit juice on the pharmacokinetics of repaglinide		601129	9919	2	2006	 The pharmacokinetics of repaglinide in subjects carrying the CYP2C8*3 mutant allele did not differ significantly from those in the wild-types. Grapefruit juice increased the bioavailability of repaglinide, suggesting significant intestinal elimination of the drug which was assumed to be primarily mediated by CYP3A4 in the gut.											
120918		drug hypersensitivity	METABOLIC	MET		10	10q23.33	CYP2C8	96786518	96819244		Martinez, C.  et al. 2005	15606441				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Caucasian		CDC GDPinfo	1558	Hs.282871			British journal of clinical pharmacology. 2005 Jan;59(1):62-9	The effect of the cytochrome P450 CYP2C8 polymorphism on the disposition of (R)-ibuprofen enantiomer in healthy subjects		601129	9915	2	2005	 Polymorphism of the CYP2C8 gene was found to be common, with nearly 30% of the population studied carrying the variant CYP2C8*3 allele. The presence of the latter caused a significant effect on the disposition of (R)-ibuprofen. This suggests that a substantial proportion of Caucasian subjects may show alterations in the disposition of drugs that are CYP2C8 substrates.	Cohort 25`individuals Cohort 355 randomly selected Spanish Caucasians 	ibuprofen									
120919		malaria	INFECTION	INF	Malaria, Falciparum	10	10q23.33	CYP2C8	96786518	96819244		Cavaco, I.  et al. 2005	15785959				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3		Tanzania	CDC GDPinfo	1558	Hs.282871			European journal of clinical pharmacology. 2005 Mar;61(1):15-8	CYP2C8 polymorphism frequencies among malaria patients in Zanzibar		601129	9916	2	2005	 CYP2C8 non-wild type alleles have a significant prevalence in the East African population studied. The consequent frequency of 3.6% of patients homozygous for slow metabolizer alleles represent a significant fraction of the population potentially in higher risk of adverse effects due to a less efficient metabolism of amodiaquine. As approximately 10(6) first-line treatments are currently performed in Zanzibar per year, this represents a non-negligible absolute number of amodiaquine exposures. This information constitutes a background for the pharmacovigilance programs presently being employed in Zanzibar.	Cohort native African individuals Cohort malaria patients Zanzibar 										
120915		malaria, plasmodium falciparum	INFECTION	INF		10	10q23.33	CYP2C8	96786518	96819244		Nakajima, M.  et al. 2003	12756196				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Japanese		CDC GDPinfo	1558	Hs.282871			Drug metabolism and disposition:  the biological fate of chemicals. 2003 Jun;31(6):687-90	Genetic polymorphisms of CYP2C8 in Japanese population.		601129	9912	2	2003	Although several SNPs such as CYP2C8*2, CYP2C8*3, CYP2C8*4, and P404A have been reported to reduce the enzymatic activity, pharmacokinetic abnormalities of drugs metabolized by polymorphic CYP2C8 might be rare in Japanese.	Cohort 200 Japanese individuals Japan 										
120916	Y	repaglinide pharmacology	OTHER	OTH		10	10q23.33	CYP2C8	96786518	96819244		Niemi, M.  et al. 2003	14534525				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinical pharmacology and therapeutics. 2003 Oct;74(4):380-7	Polymorphism in CYP2C8 is associated with reduced plasma concentrations of repaglinide.		601129	9913	2	2003	 Unexpectedly, the CYP2C8*3 variant allele was associated with reduced plasma concentrations of repaglinide. The effects of CYP2C8 polymorphisms on the pharmacokinetics of CYP2C8 substrates warrant further study.	Cohort 28 healthy volunteers 	repaglinide									
120917	Y	ibuprofen clearance	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244		Garcia-Martin, E.  et al. 2004	15289789				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Clinical pharmacology and therapeutics. 2004 Aug;76(2):119-27	Interindividual variability in ibuprofen pharmacokinetics is related to interaction of cytochrome P450 2C8 and 2C9 amino acid polymorphisms.		601129	9914	2	2004	 Low ibuprofen clearance occurs in a substantial proportion of healthy subjects, is not enantiospecific, and is strongly linked to CYP2C8 and CYP2C9 polymorphisms.	Cohort 130 healthy individuals who received a single oral dose of 400 mg racemic ibuprofen 										
120912	Y	reduced plasma concentrations of repaglinide	OTHER	OTH		10	10q23.33	CYP2C8	96786518	96819244		Niemi M 2003	14534525				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			KGB	1558	Hs.282871			Clinical pharmacology and therapeutics. 2003 Oct;74(4):380-7	Polymorphism in CYP2C8 is associated with reduced plasma concentrations of repaglinide.		601129	1608	1	2003	 Unexpectedly, the CYP2C8*3 variant allele was associated with reduced plasma concentrations of repaglinide. The effects of CYP2C8 polymorphisms on the pharmacokinetics of CYP2C8 substrates warrant further study.	Cohort 28 healthy volunteers	repaglinide									
120913		repaglinide pharmacology	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244		Dai, D.  et al. 2001	11668219				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Pharmacogenetics. 2001 Oct;11(7):597-607	Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug paclitaxel and arachidonic acid.		601129	9910	2	2001	Thus, CYP2C8*3 is defective in the metabolism of	Cohort African-Americans, Caucasians, Asians, not otherwise specified in abstract 										
120914		anticoagulant complications; ibuprofen clearance	METABOLIC	MET		10	10q23.33	CYP2C8	96786518	96819244		Yasar, U.  et al. 2002	12435384				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDPinfo	1558	Hs.282871			Biochemical and biophysical research communications. 2002 Nov;299(1):25-8	Linkage between the CYP2C8 and CYP2C9 genetic polymorphisms		601129	9911	2	2002	The number of subjects carrying both of the CYP2C8*1*3 and CYP2C9*1*2 was 4.5-fold higher than expected. This strong association may be of importance especially for the metabolism of common substrates of CYP2C8 and CYP2C9 like arachidonic acid that produces physiologically active metabolites.	Cohort 1468 subjects that were used as population-based controls in the Stockholm Heart Epidemiology Program (SHEEP) 										
120909		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		England	CDC GDPinfo	1557	Hs.282409			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		124020	26831	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
120910		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		124020	27696	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
120911		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Watanabe, I.  et al. 2003	12732844				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese	Japan	CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		124020	28039	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
120906		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		124020	24239	2	2002	Review article		smoking (tobacco)									
120907		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Mochizuki, J.  et al. 2005	16048566				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of gastroenterology and hepatology. 2005 Aug;20(8):1191-7	Genetic polymorphisms of cytochrome P450 in patients with hepatitis C virus-associated hepatocellular carcinoma.		124020	24240	2	2005	 There is no statistically significant difference in genetic mutant alleles between the two groups, except for the genotype of CYP2A6*4A homozygous. The frequency of this genotype in the HCC patients (0.144) is significantly higher than that in healthy Japanese (0.034; P < 0.05; odds ratio 3.36). The clinical significance related to HCC is unknown. Further evaluation of CYP2A6*4A (deletion type) in HCV-related HCC patients is required.											
120908		HIV	INFECTION	INF	HIV Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Haas, D. W.  et al. 2005	16267764				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The Journal of infectious diseases. 2005 Dec;192(11):1931-42	Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials GroupStudy.		124020	24241	2	2005	 Genetic variants predict plasma exposure to efavirenz and nelfinavir, and they may predict virologic failure and/or emergence of drug-resistant virus. These associations with treatment responses must be validated in other studies.		efavirenz nelfinavir									
120903		premature ovarian failure; lupus nephritis	REPRODUCTION	REP	Lupus Nephritis|Kidney Failure, Chronic|Ovarian Failure, Premature	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Takada, K.  et al. 2004	15248218				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Arthritis and rheumatism. 2004 Jul;50(7):2202-10	Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.		124020	20989	2	2004	 Determination of selected cytochrome P450 enzyme genotypes may be valuable for predicting the risk of premature ovarian failure in lupus nephritis patients treated with cyclophosphamide. The association of these genotypes with renal response needs further validation.	Cohort 62 patients with proliferative lupus nephritis treated with cyclophosphamide 	cyclophosphamide									
120904		cyclophosphamide phamacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Timm, R.  et al. 2005	16116487				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The pharmacogenomics journal. 2005 ;5(6):365-73	Association of cyclophosphamide pharmacokinetics to polymorphic cytochrome P450 2C19.		124020	20990	2	2005												
120905		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Gaikovitch, E. A.  et al. 2003	12879168				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Russian		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		124020	24238	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
120900		CYP1A2 activity	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Han, X. M.  et al. 2002	12445035				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2002 Nov;54(5):540-3	Inducibility of CYP1A2 by omeprazole in vivo related to the genetic polymorphism of CYP1A2.		124020	20986	2	2002	 The CYP1A2*1C and CYP1A2*1F genetic polymorphisms influenced the induction of CYP1A2 activity in vivo by omeprazole.	Cohort 12 extensive metabolizers 	omeprazole									
120901		mephobarbital metabolism	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kobayashi, K.  et al. 2004	15284537				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2004 Aug;14(8):549-56	Pharmacogenetic roles of CYP2C19 and CYP2B6 in the metabolism of R- and S-mephobarbital in humans		124020	20987	2	2004	 Our results indicate that the 4'-hydroxylation of R-MPB is mediated via CYP2C19 and that the rapid 4'-hydroxylation of R-MPB results in a marked difference in the pharmacokinetic profiles between R-MPB and S-MPB in the different CYP2C19 genotypic individuals. In addition, a minor fraction of the interindividual variability in PB formation from MPB may be explainable by the CYP2B6*6 allele.	Cohort 9/10/11 9 homozygous extensive metabolizers of CYP2C19, 10 heterozygous Ems, and 11 poor metabolizers recruited from a Japanese population, 	mephobarbital									
120902		cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Hematologic Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Xie, H.  et al. 2005	16183265				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			European journal of pharmaceutical sciences. 2006 Jan;27(1):54-61	Pharmacogenetics of cyclophosphamide in patients with hematological malignancies.		124020	20988	2	2005												
120897		phenytoin	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Allabi, A. C.  et al. 2005	16220110				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics and genomics. 2005 Nov;15(11):779-86	CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population.		124020	20983	2	2005												
120898	N	leukemia, adult acute	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid|Acute Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Roddam, P. L.  et al. 2000	11037802				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2000 Oct;10(7):605-15	Poor metabolizers at the cytochrome P450 2D6 and 2C19 loci are at increased risk of developing adult acute leukaemia.		124020	20984	2	2000	For this CYP450 locus, an increased risk was suggested in secondary leukaemia (OR 2.67, 95% CI 0.44-16.3) and amongst AML cases with a chromosomal abnormality (OR 6.72, 95% CI 2.22-20.4). No difference in CYP1A1 genotype distribution was found for acute leukaemia, AML, ALL or any other diagnostic classification group used. No significant interactions between CYP2D6, CYP2C19 or CYP1A1 were found.	Case:550 cases of acute leukemia;Control:950 matched controls	smoking (tobacco)									
120899		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bowen, D. T.  et al. 2002	12468438				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		124020	20985	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
120894		cancer; HIV infection	CANCER	CAN	HIV Infections|Neoplasms|Disease Progression	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Williams, M. L.  et al. 2002	11865668				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Current opinion in drug discovery & development. 2002 Jan;5(1):144-9	Genotype/phenotype comparisons: a probe for theeffect of disease progression on drug metabolism		124020	18507	2	2002	Thus, polymorphic enzymes such as CYP2C19 and NAT2 can be used to probe changes in drug-metabolizing enzyme capacities. The development of genotype/phenotype discordances should reflect general changes in metabolic capabilities and, thus, alterations in the activities of other important enzymes such as CYP3A. The data also suggest that the genotype/phenotype probes can be used to optimize the clinical treatment of patients with advanced disease states.	Cohort HIV+/AIDS patients and patients with advanced cancer 										
120896		phenytoin levels	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kerb, R.  et al. 2001	11908757				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The pharmacogenomics journal. 2001 ;1(3):204-10	The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels.		124020	20982	2	2001	The regression equation that fitted the data best included the number of mutant CYP2C9 and MDR*T alleles as predictory variables and explained 15.4% of the variability of phenytoin data (r2 = 0.154, P = 0.0002). Furthermore, analysis of CYP2C9 and MDR1 genotypes in 35 phenytoin-treated patients recruited from therapeutic drug monitoring showed that combined CYP2C9 and MDR1 analysis has some predictive value not only in the controlled settings of a clinical trial, but also in the daily clinical practice.	Cohort 96 healthy Turkish volunteers 										
120892		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Peptic Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sapone, A.  et al. 2003	12809821				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Caucasian		CDC GDPinfo	1557	Hs.282409			The American journal of gastroenterology. 2003 May;98(5):1010-5	The clinical role of cytochrome p450 genotypes in Helicobacter pylori management.		124020	16241	2	2003	 This first pharmacogenomics study on the influence of different CYP genotypes on H. pylori therapy suggests that, as in Asian populations, CYP2C19 genotype patterns are probably also relevant in Caucasians receiving H. pylori eradication regimens that include omeprazole. The possibility of a favorable drug interaction mediated by CYP2C19 and CYP3A4 requires investigation.	Cohort 143 consecutive Italian Caucasian patients with H. pylori infection diagnosed and treated with 1-wk triple therapy according to European Helicobacter Pylori Study Group guidelines 	H. pylori therapy omeprazole									
120893		lansoprazole phamacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yasui-Furukori, N.  et al. 2004	15496639				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of clinical pharmacology. 2004 Nov;44(11):1223-9	Effects of fluvoxamine on lansoprazole pharmacokinetics in relation to CYP2C19 genotypes.		124020	16250	2	2004	The present study indicates that there are significant drug interactions between lansoprazole and fluvoxamine in EMs. CYP2C19 is predominantly involved in lansoprazole metabolism in EMs.	Cohort 18 volunteers 	fluvoxamine lansoprazole									
120888	Y	depression	PSYCH	PSY	Depressive Disorder	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Steimer, W.  et al. 2004	15590749				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical chemistry. 2005 Feb;51(2):376-85	Amitriptyline or not, that is the question:pharmacogenetic testing of CYP2D6 and CYP2C19 identifies patients with low or high risk for side effects in amitriptyline therapy.		124020	16210	2	2004	 Combined pharmacogenetic testing for CYP2D6 and CYP2C19 identifies patients with low risk for side effects in amitriptyline therapy and could possibly be used to individualize antidepressive regimens and reduce treatment cost. Identification of genotypes associated with slightly reduced intermediate metabolism may be more important than currently anticipated. It could also be the key to demonstrating cost-effectiveness for CYP2D6 genotyping in critical dose drugs.	Cohort 50 Caucasian inpatients with at least medium-grade depressive disorder 	amitriptyline									
120889		drug hypersensitivity	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Koski, A.  et al. 2005	16024198				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Forensic science international. 2005	CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies.		124020	16215	2	2005												
120890		lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Saito, M.  et al. 2005	15752376				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2005 Mar;59(3):302-9	Effects of clarithromycin on lansoprazole pharmacokinetics between CYP2C19 genotypes.		124020	16231	2	2005	 The present study indicates that there are significant drug interactions between lansoprazole and clarithromycin in all CYP2C19 genotype groups probably through CYP3A inhibition. The bioavailability of lansoprazole might, to some extent, be increased through inhibition of P-glycoprotein during clarithromycin treatment.	Cohort 18 volunteers 	clarithromycin lansoprazole									
120885		citalopram metabolism	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Holmgren, P.  et al. 2004	15068562				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of analytical toxicology. 2004 Mar;28(2):94-104	Enantioselective analysis of citalopram and its metabolites in postmortem blood and genotyping for CYD2D6 and CYP2C19		124020	16204	2	2004	The presence of drugs metabolized by and/or inhibiting these enzymes in several of the cases suggests that such pharmacokinetic interactions are a more important (practical) problem than metabolic deficiency. Enantioselective analysis of citalopram and its metabolites can provide additional information when interpreting forensic toxicology results and might be a necessity in the future.	Cohort 53 autopsy cases 										
120886		seizures; thrombosis, deep vein; systemic sclerosis	NEUROLOGICAL	NEUR		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Eriksson, S.  et al. 2002	15090156				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Assay and drug development technologies. 2002 Nov;1(1 Pt 1):49-59	Cytochrome p450 genotyping by multiplexed real-time dna sequencing with pyrosequencing technology.		124020	16205	2	2002	Pyrosequencing technology offers a highly automated, rapid, and accurate method for identification of cytochrome p450 alleles, which is suitable for pharmacogenomic research, as well as for routine assessment of patient genotypes.	Cohort patients samples 										
120882	Y	amitriptyline metabolism	METABOLIC	MET	Mental Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Shimoda, K.  et al. 2002	12172336				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Journal of clinical psychopharmacology. 2002 Aug;22(4):371-8	The impact of CYP2C19 and CYP2D6 genotypes on metabolism of amitriptyline in Japanese psychiatric patients		124020	16192	2	2002	Therefore, the genotype of CYP2C19 is one of the important determinants of the plasma concentrations of AT and the capacity to desmethylate AT. Mother compound AT is shunted via hydroxylation pathways from AT to EHAT and ZHAT in the subjects with homozygotes of mutated alleles of CYP2C19 in order to compensate for the decreased capacity to desmethylate AT.	Cohort 50 psychiatric patients 										
120883		doxepin metabolism	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kirchheiner, J.  et al. 2002	12360109				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2002 Oct;12(7):571-80	Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers.		124020	16194	2	2002	The CYP2D6 polymorphism had a major impact on E-doxepin pharmacokinetics and CYP2D6 PMs might be at an elevated risk for adverse drug effects when treated with common recommended doses.	Cohort healthy volunteers 	doxepin									
120884	Y	liver disease	OTHER	OTH		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kumashiro, R.  et al. 2003	12963435				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Hepatology research. 2003 Aug;26(4):337-342	Association of troglitazone-induced liver injury with mutation of the cytochrome P450 2C19 gene.		124020	16198	2	2003	In conclusion, troglitazone-induced liver injury occurred more frequently in subjects with the CYP 2C19 mutations in Japanese patients.	Cohort 39 Japanese type 2 diabetic subjects 	troglitazone									
120880		phenytoin levels	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Tamminga, W. J.  et al. 2001	11829201				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Dutch		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2001 Dec;57(10):717-22	The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers.		124020	16189	2	2001	 The frequencies of CYP2D6 and CYP2C19 allelic variants were in accordance with other European populations. Assessment of *3, *4, *6, *7, and *8 alleles for CYP2D6, and *2 and *3 for CYP2C19, predicted the phenotype with an accuracy of over 98.6%. A gene-dose effect was found for CYP2C19. CYP2C19 heterozygous female subjects had a decreased CYP2C19 activity that may be at least partly due to the use of oral contraceptives.	Cohort 765 unrelated healthy volunteers 										
120881		CYP2C19 activity; CYP2D6 activitiy	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Aklillu, E.  et al. 2002	12142727				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Swedish, Ethiopians		CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2002 Jul;12(5):375-83	Evidence for environmental influence on CYP2D6-catalysed debrisoquine hydroxylation as demonstrated by phenotyping and genotyping of Ethiopians living in Ethiopia or in Sweden.		124020	16191	2	2002	In conclusion, the results indicate a significant influence of environmental factors as an explanation for the difference in capacity for CYP2D6, but not CYP2C19 metabolism between Caucasians and Black Africans. Additional factors remain to be elucidated to fully explain the interethnic differences in CYP2D6 activity.	Cohort 70/114/134 Ethiopians living in Sweden (n = 70) were assessed and compared to our previously published data from Ethiopians living in Ethiopia (n = 114) and Swedish Caucasians (n = 134) 										
120877		etizolam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Fukasawa, T.  et al. 2005	16261363				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 Dec;61(11):791-5	Pharmacokinetics and pharmacodynamics of etizolam are influenced by polymorphic CYP2C19 activity.		124020	16123	2	2005	 The present study suggests that the single-dose pharmacokinetics and pharmacodynamics of etizolam are influenced by polymorphic CYP2C19 activity.											
120878		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sugimoto, M.  et al. 2005	16268979				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese	Japan	CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2005 Nov;22(10):1033-40	Poor metabolizer genotype status of CYP2C19 is a risk factor for developing gastric cancer in Japanese patients with Helicobacter pylori infection.		124020	16124	2	2005	 In H. pylori-positive Japanese, poor metabolizers of CYP2C19 appear to be at an increased risk for developing gastric cancer, especially diffuse type, and may require an intensive follow-up for scrutinizing possible gastric cancer development.											
120879	Y	clomipramine metabolism	PHARMACOGENOMIC	PHARM	Depressive Disorder	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yokono, A.  et al. 2001	11763000				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Journal of clinical psychopharmacology. 2001 Dec;21(6):549-55	The effect of CYP2C19 and CYP2D6 genotypes on the metabolism of clomipramine in Japanese psychiatric patients.		124020	16188	2	2001	These results suggest that genotyping CYP2C19 is useful for grossly predicting the risk of getting high plasma concentrations of C and the low individual capacity to demethylate C because there is marked interindividual variability within each genotype. However, the genotyping of CYP2D6 is not useful for predicting the individual capacity to hydroxylate DC.	Cohort 51 Japanese psychiatric patients (18 men and 33 women) 										
120874		diabetes, type 2	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Fukushima-Uesaka, H.  et al. 2005	16141610	CYP2C9 allelic variants:ethnic distribution and functional significance.			Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Drug metabolism and pharmacokinetics. 2005 Aug;20(4):300-7	Genetic variations and haplotypes of CYP2C19 in a Japanese population.		124020	16120	2	2005												
120875		omeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ishizawa, Y.  et al. 2005	16231968				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacokinetics. 2005 ;44(11):1179-89	The effect of aging on the relationship between the cytochrome P450 2C19 genotype and omeprazole pharmacokinetics.		124020	16121	2	2005	 The elderly EMs showed wide variance in the in vivo CYP2C19 activity and were phenotypically closer to the elderly PMs than the young EMs were to the young PMs. Some of the elderly homozygous EMs, as well as heterozygous EMs, have a metabolic activity similar to PMs, and the CYP2C19 genotype may therefore not be as useful as phenotyping in the elderly.											
120876		E7070 phamacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yamada, Y.  et al. 2005	16232205				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Cancer science. 2005 Oct;96(10):721-8	Phase I pharmacokinetic and pharmacogenomic study of E7070 administered once every 21 days.		124020	16122	2	2005												
120871		lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2005	15963095				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2005 Jul;60(1):61-8	Enantioselective disposition of lansoprazole in relation to CYP2C19 genotypes in the presence of fluvoxamine.		124020	16117	2	2005	 The magnitude of the contribution of CYP2C19 to the metabolism of (S)-lansoprazole is much greater compared with that of the (R)-enantiomer. In extensive metabolizers, hepatic CYP2C19 plays an important role in the absorption and elimination of lansoprazole, particularly the (S)-enantiomer.		fluvoxamine									
120872		carisoprodol pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bramness, J. G.  et al. 2005	16021435				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 Aug;61(7):499-506	The CYP2C19 genotype and the use of oral contraceptives influence the pharmacokinetics of carisoprodol in healthy human subjects.		124020	16118	2	2005	 Subsequent to a single-dose administration of carisoprodol, the carisoprodol AUC was approximately 45% larger in CYP2C19 IMs than in EMs. The use of oral contraceptives increased the AUC by approximately 60% in both EMs and IMs. Despite these pharmacokinetic effects, no significant differences with respect to the CYP2C19 IM and EM genotypes were observed in the acute impairing effects of a single dose of carisoprodol.		oral contraceptive									
120873		ulcer, gastric	UNKNOWN	UNK	Stomach Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ando, T.  et al. 2005	16133961				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Digestive diseases and sciences. 2005 Sep;50(9):1625-31	A comparative study on endoscopic ulcer healing of omeprazole versus rabeprazole with respect to CYP2C19 genotypic differences.		124020	16119	2	2005			omeprazole rabeprazole									
120868		lansoprazole disposition	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2005	15856433				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Chirality. 2005 Jun;17(6):338-44	Effect of clarithromycin on the enantioselective disposition of lansoprazole in relation to CYP2C19 genotypes.		124020	16114	2	2005	The present study suggests that there are significant drug interactions between (R)- or (S)-lansoprazole and clarithromycin in EMs by inhibiting the CYP3A4-catalyzed sulfoxidation primarily during the first pass, whereas in PMs, the overall metabolism of lansoprazole is inhibited.	Cohort 18 healthy Japanese subjects 	clarithromycin									
120869		gastric disease	OTHER	OTH		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sugimoto, M.  et al. 2005	15903128				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2005 Apr;77(4):302-11	Comparison of an increased dosage regimen of rabeprazole versus a concomitant dosage regimen of famotidine with rabeprazole for nocturnal gastric acid inhibition in relation to cytochrome P450 2C19 genotypes.		124020	16115	2	2005	 The combination regimen of famotidine plus rabeprazole is more effective for nocturnal acid inhibition in homozygous and heterozygous EMs than the increased dosage regimen of rabeprazole. This concomitant therapy could be a rescue regimen for patients with nocturnal acid breakthrough refractory to a standard PPI therapy who are likely to be CYP2C19 EMs.	Cohort 15 Helicobacter pylori-negative volunteers, consisting of 5 homozygous extensive metabolizers (EMs), 6 heterozygous EMs, and 4 poor metabolizers 	famotidine rabeprazole									
120865	N	rabeprazole pharmacokinetics	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hu, Y. M.  et al. 2005	15715938				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Acta pharmacologica Sinica. 2005 Mar;26(3):384-8	Pharmacodynamic effects and kinetic disposition of rabeprazole in relation to CYP2C19 genotype in healthy Chinese subjects.		124020	16111	2	2005	 In healthy Chinese Han subjects, the pharmacokinetics of rabeprazole are dependent on a certain degree on CYP2C19 genotype status; however, the acid-inhibitory efficacy of rabeprazole is not influenced significantly by CYP2C19 genetic polymorphism.	Cohort 20 healthy Chinese Han volunteer subjects 	rabeprazole									
120866	Y	chlorpropamide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Shon, J. H.  et al. 2005	15842554				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2005 May;59(5):552-63	Chlorpropamide 2-hydroxylation is catalysed by CYP2C9 and CYP2C19 in vitro: chlorpropamidedisposition is influenced by CYP2C9, but not by CYP2C19 genetic polymorphism.		124020	16112	2	2005	 These results suggest that chlorpropamide disposition is principally determined by CYP2C9 activity in vivo, although both CYP2C9 and CYP2C19 have a catalysing activity of chlorpropamide 2-hydroxylation pathway.	Cohort 21 healthy subjects 										
120867		phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Taguchi, M.  et al. 2005	15855721				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):107-12	Evaluation of phenytoin dosage regimens based on genotyping of CYP2C subfamily in routinely treated Japanese patients.		124020	16113	2	2005	These findings suggested that the mechanism responsible for the large variability in the clearance of phenytoin is not completely resolved, and that we should not overestimate the usefulness of genotyping the CYP2C subfamily in determining the dosage regimens of the drug.	Cohort 20 routinely treated Japanese patients 										
120862		omeprezole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yin, O. Q.  et al. 2004	15608563				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2004 Dec;14(12):841-50	Pharmacogenetics and herb-drug interactions:experience with Ginkgo biloba and omeprazole		124020	16108	2	2004	 Our results show that G biloba can induce omeprazole hydroxylation in a CYP2C19 genotype-dependent manner and concurrently reduce the renal clearance of 5-hydroxyomeprazole. Co-administration of G. biloba with omeprazole or other CYP2C19 substrates may significantly reduce their effect, but further studies are warranted.	Cohort 18 healthy Chinese subjects 	Ginkgo biloba									
120864		H. pylori infection	INFECTION	INF	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sheu, B. S.  et al. 2005	15691303				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2005 Feb;21(3):283-8	Esomeprazole 40 mg twice daily in triple therapy and the efficacy of Helicobacter pylori eradication related to CYP2C19 metabolism.		124020	16110	2	2005	 Esomeprazole 40 mg twice daily for triple therapy may improve the H. pylori eradication compared to omeprazole-based therapy, but only for homologous extensive metabolizers of CYP2C19.	Cohort 200 H. pylori-infected dyspeptic patients 	clarithromycin esomeprazole omeprazole									
120860		gastric disease	OTHER	OTH	Stomach Diseases	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Roh, H. K.  et al. 2004	15447734				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Korean	Korea	CDC GDPinfo	1557	Hs.282409			Basic & clinical pharmacology & toxicology. 2004 Sep;95(3):112-9	Omeprazole treatment of Korean patients: effects ongastric pH and gastrin release in relation to CYP2C19 geno- and phenotypes.		124020	16106	2	2004	We suggest that the reason why the wt/wt had high concentrations of omeprazole similar to those in the other two genotype groups is that some of them were old with low CYP2C19 activity. In these patients omeprazole accumulated from the first to the eighth dose similar to that in the heterozygotes.	Cohort 26 Korean patients with acid related disease 	omeprazole									
120861		lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2004	15448955				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2004 Nov;60(9):623-8	Pharmacokinetic differences between the enantiomers of lansoprazole and its metabolite, 5-hydroxylansoprazole, in relation to CYP2C19 genotypes.		124020	16107	2	2004	 The magnitude of the contribution of CYP2C19 to the 5-hydroxylation of ( S)-lansoprazole was greater than that of the ( R)-enantiomer. The R/S ratios for the AUC of lansoprazole for the homEMs, hetEMs and PMs were 12.7, 8.5 and 5.8, respectively, suggesting a significant effect of CYP2C19 polymorphisms on the stereoselective disposition of lansoprazole.	Cohort 18 Healthy subjects, of whom 6 were homozygous extensive metabolizers (homEMs), 6 were heterozygous extensive metabolizers (hetEMs) and 6 were poor metabolizers (PMs) 										
120857		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Itagaki, F.  et al. 2004	15285851				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The Journal of pharmacy and pharmacology. 2004 Aug;56(8):1055-9	Effect of lansoprazole and rabeprazole on tacrolimus pharmacokinetics in healthy volunteers with CYP2C19 mutations		124020	16103	2	2004	These observations suggest that drug interaction between tacrolimus and lansoprazole occurs in subjects with higher lansoprazole blood concentrations corresponding to CYP2C19 genetic status. In contrast, rabeprazole has minimal effect on tacrolimus pharmacokinetics regardless of CYP2C19 genotype status.	Cohort 19 healthy subjects 	lansoprazole rabeprazole tacrolimus									
120858	Y	lasoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hu, Y. R.  et al. 2004	15301728				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Acta pharmacologica Sinica. 2004 Aug;25(8):986-90	Pharmacokinetics of lansoprazole in Chinese healthy subjects in relation to CYP2C19 genotypes.		124020	16104	2	2004	 CYP2C19 genotype is the major factor to influence the interindividual kinetic variability of lansoprazole. Individualized dose regimen of lansoprazole, based on identification of genotype, can be of great benefit for the reasonable use of this drug.	Cohort 9/9 homozygous extensive metabolizers (n=9) and 9 poor metabolizers (n=9) recruited for the study from a total of 70 healthy Chinese volunteers 	lansoprazole									
120859	Y	quazepam pharmacokinetics	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Fukasawa, T.  et al. 2004	15385836				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Therapeutic drug monitoring. 2004 Oct;26(5):529-33	Single oral dose pharmacokinetics of quazepam is influenced by CYP2C19 activity.		124020	16105	2	2004	The present study suggests that the single oral dose pharmacokinetics of quazepam are influenced by CYP2C19 activity but not by cigarette smoking.	Cohort 20 healthy Japanese volunteers 										
120855		omeprazole metabolism	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yin, O. Q.  et al. 2004	15145965				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Journal of clinical pharmacology. 2004 Jun;44(6):582-9	Omeprazole as a CYP2C19 marker in Chinese subjects:assessment of its gene-dose effect and intrasubject variability.		124020	16101	2	2004	In view of the clear gene-dose effect, concordance with mephenytoin HI, and low intrasubject variability, omeprazole MR following a 40-mg oral dose can be considered as a specific and sensitive marker for CYP2C19 activity in Chinese subjects.	Cohort 27 healthy male chinese subjects 										
120856	Y	lung cancer; esophageal cancer; stomach cancer; bladder cancer	CANCER	CAN	Neoplasms|Esophageal Neoplasms|Stomach Neoplasms|Lung Neoplasms|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Shi, W. X.  et al. 2004	15222046				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			World journal of gastroenterology. 2004 Jul;10(13):1961-3	Frequencies of poor metabolizers of cytochrome P450 2C19 in esophagus cancer, stomach cancer, lung cancer and bladder cancer in Chinese population.		124020	16102	2	2004	 CYP2C19 PMs have a high incidence of esophagus cancer, stomach cancer and lung cancer, conversely they have a low incidence of bladder cancer. It suggests that CYP2C19 may participate in the activation of procarcinogen of esophagus cancer, stomach cancer and lung cancer, but may involve in the detoxification of carcinogens of bladder cancer.	Case:135/148/212/112 esophagus cancer (n=135), stomach cancer (n=148), lung cancer (n=212), bladder cancer (n=112);Control:372:controls										
120852	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Duodenal Ulcer|Stomach Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Lee, S. B.  et al. 2003	14695703				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The Korean journal of gastroenterology. 2003 Dec;42(6):468-75	Efficacy of Triple Therapy with Rabeprazole for Helicobacter pylori Infection in relation to CYP2C19 Genotype		124020	16098	2	2003	 In the eradication therapy of H. pylori, no statistically significant difference in therapeutic efficacy of rabeprazole was found among different CYP2C19 genotypes.	Cohort 116 H. pylori infected patients with gastric ulcer and duodenal ulcer 	amoxycillin clarithromycin rabeprazole									
120853		fluvoxamine metabolism; omeprazole metabolism	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yasui-Furukori, N.  et al. 2004	15025747				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2004 Apr;57(4):487-94	Different inhibitory effect of fluvoxamine on omeprazole metabolism between CYP2C19 genotypes.		124020	16099	2	2004	 Even a low dose of fluvoxamine increased omeprazole exposure in EMs, but did not increase omeprazole exposure in PMs after a single oral dose of omeprazole. These findings confirm a potent inhibitory effect of fluvoxamine on CYP2C19 activity. The bioavailability of omeprazole might, to some extent, be increased through inhibition of P-glycoprotein during fluvoxamine treatment.	Cohort 18 volunteers 	fluvoxamine omeprazole									
120854		CYP1A2 activity	METABOLIC	MET	Chromosome Aberrations|Micronuclei, Chromosome-Defective	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sinues, B.  et al. 2004	15119530				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Human & experimental toxicology. 2004 Mar;23(3):107-13	Omeprazole treatment: genotoxicity biomarkers, andpotential to induce CYP1A2 activity in humans.		124020	16100	2	2004		Cohort 33 healthy volunteers 	omeprazole									
120849	Y	carisoprodol metabolism	PHARMACOGENOMIC	PHARM	Substance-Related Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bramness, J. G.  et al. 2003	12835613				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2003 Jul;13(7):383-8	Association between blood carisoprodol:meprobamateconcentration ratios and CYP2C19 genotype in carisoprodol-drugged drivers: decreased metaboliccapacity in heterozygous CYP2C19*1/CYP2C19*2 subjects?		124020	16095	2	2003	This result indicates a gene dosage effect where	Cohort 358 blood samples from apprehended drivers, two polarized groups were selected; a high-ratio group 	carisoprodol									
120850	Y	metabolism disorders	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hoskins, J. M.  et al. 2003	13680037				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2003 Nov;59(9-Aug):611-4	Concordance between proguanil phenotype and CYP2C19 genotype in Chinese.		124020	16096	2	2003	 A gene-dose effect of CYP2C19 genotype on the conversion of proguanil to cycloguanil and 4-chlorophenylbiguanide has been demonstrated in ethnic Chinese subjects. Complete concordance between PM CYP2C19 genotype and PM phenotype was only achieved with probit analysis of proguanil metabolite ratios that incorporated 4-chlorophenylbiguanide.	Cohort 38 ethnic Chinese subjects 	proguanil									
120851		gastric disease	OTHER	OTH		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Shimatani, T.  et al. 2003	14653835				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2003 Dec;18(12-Nov):1149-57	Effect of omeprazole 10 mg on intragastric pH in three different CYP2C19 genotypes, compared with omeprazole 20 mg and lafutidine 20 mg, a new H2-receptor antagonist.		124020	16097	2	2003	 Omeprazole 10 mg strongly suppresses acid secretion, but depending on the CYP2C19 genotypes shows greater interindividual variations in suppression than 20 mg.	Cohort 18 healthy subjects without Helicobacter pylori participated 	lafutidine omeprazole									
120846		thalidomide metabolites	UNKNOWN	UNK	Prostatic Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ando, Y.  et al. 2002	12642692				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Cancer biology & therapy. 2002 Nov-Dec;1(6):669-73	Pharmacogenetic associations of CYP2C19 genotype with in vivo metabolisms and pharmacological effects of thalidomide.		124020	16092	2	2002	Although this study had no power to detect the statistical significance of the CYP2C19 genotype, the findings were consistent with our hypothesis. The role of CYP2C19 polymorphism in thalidomide treatments remains to be elucidated.	Cohort 63 prostate cancer cases 	thalidomide									
120848		gastric disease	OTHER	OTH	Gastroesophageal Reflux	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Egan, L. J.  et al. 2003	12823155				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2003 Jun;17(12):1521-8	CYP2C19 pharmacogenetics in the clinical use of proton-pump inhibitors for gastro-oesophageal reflux disease: variant alleles predict gastricacid suppression, but not oesophageal acid exposure or reflux symptoms.		124020	16094	2	2003	 These results indicate that factors other than gastric acid secretion are important determinants of reflux in GERD patients. This suggests that CYP2C19 genotype testing will not be useful in proton-pump inhibitor therapy of GERD, except perhaps in identifying patients at risk for hypochlorhydria and consequent hypergastrinemia.	Cohort 66 gastro-oesophageal reflux disease subjects 										
120844		gastroesophageal reflux disease	UNKNOWN	UNK	Helicobacter Infections|Gastroesophageal Reflux	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2002	12386647				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2002 Oct;72(4):453-60	Effect of cytochrome P4502C19 genotypic differences on cure rates for gastroesophageal reflux disease by lansoprazole.		124020	16090	2	2002	 CYP2C19 genotype status, as well as the grade of GERD before treatment, is one of the determinants for the success or failure of treatment of GERD with lansoprazole. The low cure rate in patients with the homozygous extensive metabolizer genotype appeared to be a result of these patients having the lowest plasma lansoprazole levels among the 3 genotype groups.	Cohort 65 patients with gastroesophageal reflux disease 	lansoprazole									
120845	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Peptic Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kawabata, H.  et al. 2003	12534411				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2003 Jan;17(2):259-64	Effect of different proton pump inhibitors, differences in CYP2C19 genotype and antibiotic resistance on the eradication rate of Helicobacter pylori infection by a 1-week regimen of proton pump inhibitor, amoxicillin and clarithromycin		124020	16091	2	2003	 The success of the 1-week proton pump inhibitor-amoxicillin-clarithromycin regimen depends on the susceptibility of H. pylori to clarithromycin. Moreover, differences in CYP2C19 genotype influence the eradication rates of lansoprazole-based therapy, and the rabeprazole-based regimen has an advantage especially in extensive metabolizers.	Cohort 187 H. pylori-infected peptic ulcer patients 	amoxicillin clarithromycin lansoprazole rabeprazole									
120840		metabolites of lansoprazole; metabolites of omerprazole; metabolites of sodium rabeprazole	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sakai, T.  et al. 2001	11474773				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmaceutical research. 2001 Jun;18(6):721-7	CYP2C19 genotype and pharmacokinetics of three proton pump inhibitors in healthy subjects		124020	16086	2	2001	 CYP2C19 genotype dependence will be found in the anti-H. pylori therapy even when lansoprazole is used as the PPI.	Cohort 18 healthy volunteersJapan 	lansoprazole omeprazole sodium rabeprazole									
120841		4'-hydroxymephenytoin; S/R-mephenytoin	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		He, N.  et al. 2002	11956668				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2002 Apr;58(1):15-8	CYP2C19 genotype and S-mephenytoin 4'-hydroxylation phenotype in a Chinese Dai population.		124020	16087	2	2002	 The frequencies of PMs and CYP2C19*3 allele in the Chinese Dai population are significantly lower than those in the Han population. The CYP2C19 genotype analysis is largely consistent with the mephenytoin phenotype analysis. The variability of S/R ratios in EMs and PMs shows a gene-dosage effect.	Cohort 193 healthy Chinese Dai volunteers 										
120838		cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ishiguro, A.  et al. 2005	15691505				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Analytical biochemistry. 2005 Feb;337(2):256-61	High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.		124020	12659	2	2005	To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.	Cohort 139 Japanese volunteers 										
120839		Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Duodenal Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2001	11240980				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2001 Mar;69(3):158-68	Effect of genotypic differences in CYP2C19 on cure rates for Helicobacter pylori infection by triple therapy with a proton pump inhibitor, amoxicillin, and clarithromycin		124020	16085	2	2001	 The majority of patients without initial eradication of H pylori had an extensive metabolizer CYP2C19 genotype but were successfully re-treated with high doses of lansoprazole and an antibiotic to which H pylori was sensitive, such as amoxicillin, even when the patients were infected with clarithromycin-resistant strains of H pylori.	Cohort 261 patients infected with H pylori 	amoxicillin clarithromycin lansoprazole omeprazole									
120836	Y	methadone toxicity; etizolam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yu, B. N.  et al. 2003	12975335				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Drug metabolism and disposition:  the biological fate of chemicals. 2003 Oct;31(10):1255-9	Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19.		124020	10013	2	2003	The results show that CYP3A4 is not the major enzyme in the N-demethylation of citalopram among extensive metabolizers. The polymorphism of CYP2C19 plays an important role in the N- demethylation of citalopram in vivo. The extensive metabolizers and poor metabolizers of CYP2C19 had significant difference in disposition of citalopram in vivo.		citalopram									
120837		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Peptic Ulcer|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2004	15017629				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical gastroenterology and hepatology. 2004 Jan;2(1):22-30	Polymorphism of interleukin-1beta affects the eradication rates of Helicobacter pylori by triple therapy.		124020	11772	2	2004	 IL-1beta-511 polymorphism is one of the determinants of successful eradication of H. pylori using triple therapy with a PPI, amoxicillin, and clarithromycin, together with CYP2C19 genotype and bacterial resistance to clarithromycin.	Cohort 336 patients infected with H. pylori 	amoxycillin clarithromycin lansoprazole omeprazole									
120834		systemic sclerosis	UNKNOWN	UNK	Scleroderma, Systemic|Disease Susceptibility	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Povey, A.  et al. 2001	11263781				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Arthritis and rheumatism. 2001 Mar;44(3):662-5	Cytochrome P2 polymorphisms and susceptibility to scleroderma following exposure to organic solvents		124020	9978	2	2001	 Our results suggest that alleles at CYP loci may be involved in increasing susceptibility to scleroderma among subjects who have been exposed to organic solvents.	Cohort 106 population controls ;Case:7 patients who had developed scleroderma after exposure to solvents;Control:71 patients with scleroderma without solvent exposure	organic solvents									
120835		cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hamdy, S. I.  et al. 2002	12047484				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	African American		CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2002 Jun;53(6):596-603	Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.		124020	9982	2	2002	 Comparing our data with that obtained in several Caucasian, African-American and Asian populations, we found that Egyptians resemble Caucasians with regard to allelic frequencies of the tested variants of CYP2C9, CYP2C19, CYP2E1 and DPYD. Our results may help in better understanding the molecular basis underlying ethnic differences in drug response, and contribute to improved individualization of drug therapy in the Egyptian population.	Cohort 247 unrelated Egyptian subjects 										
120831	N	drug hypersensitivity	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Egger, T.  et al. 2005	15813658				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Drugs & aging. 2005 ;22(3):265-72	Cytochrome p450 polymorphisms in geriatric patients: impact on adverse drug reactions--a pilotstudy.		124020	9973	2	2005	 In this investigation geriatric patients showed a high rate of ADRs. However, no association between the ADR rate and the patients' genotype could be detected, which most likely was a result of the small number of patient samples analysed.Although prophylactic genotyping would have not prevented ADRs in this pilot study, physicians nevertheless have to be aware of potential genetic mutations in patients with polypharmacy.	Cohort 243 patients in a geriatric rehabilitation ward, mean age 80.2 +/- 7.7 years 										
120832		ulcer, gastric; repaglinide pharmacology; coagulation disorder	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Halling, J.  et al. 2005	16025294				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Faroese		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 Aug;61(7):491-7	Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.		124020	9974	2	2005	 The frequency of CYP2D6 poor metabolizers is twofold higher among the Faroese population than other Caucasians, while the frequencies of Faroese subjects with decreased CYP2C19, CYP2C8 and CYP2C9 enzyme activity are the same as seen in other Caucasian populations. A possible consequence might be a higher incidence of side effects among Faroese patients taking pharmaceuticals that are CYP2D6 substrates.											
120829	N	amitriptyline; nortriptyline	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Steimer, W.  et al. 2004	15205367				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical chemistry. 2004 Sep;50(9):1623-33	Allele-Specific Change in Concentration and Functional Gene Dose for the Prediction of Steady-State Serum Concentrations of Amitriptyline and Nortriptyline in CYP2C19 and CYP2D6 Extensive and Intermediate Metabolizers		124020	9969	2	2004	 AT and NT concentrations can be predicted within the group of CYP2D6 extensive metabolizers. The ASCOC provides substantial advantages compared with current methods of analysis. CYP2D6 but not CYP2C19 correlates with the sum of both concentrations used to guide AT therapy.	Cohort 50 Caucasians receiving amitriptyline 	amitriptyline									
120830		H. pylori infection	INFECTION	INF		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Luo, H. R.  et al. 2004	15651900				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Jewish		CDC GDPinfo	1557	Hs.282409			American journal of pharmacogenomics. 2004 ;4(6):395-401	Polymorphisms of CYP2C19 and CYP2D6 in Israeli Ethnic Groups		124020	9971	2	2004	 This is the first study of the CYP2D6 gene polymorphism in Israeli ethnic groups, either Jewish or Arab. Furthermore, this is also the first study of the CYP2C19 gene polymorphism in Jewish or Arab subgroups living in Israel. The frequencies of various alleles for the CYP2D6 gene are significantly different among the ethnic groups in Israel. These new findings may have important clinical implications in administrating drugs metabolized by CYP2D6 and for CYP2D6-related adverse drug reactions in the Israeli population.	Cohort Israelis from four different ethnic backgrounds 										
120826		lung cancer; liver cancer	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bozina, N.  et al. 2003	12950145				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	European		CDC GDPinfo	1557	Hs.282409			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9,CYP2C19, and CYP2D6 in Croatian population.		124020	9965	2	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia 										
120827		trimipramine pharmakokinetics	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kirchheiner, J.  et al. 2003	14520122				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of clinical psychopharmacology. 2003 Oct;23(5):459-66	Effects of polymorphisms in CYP2D6, CYP2C9, and CYP2C19 on trimipramine pharmacokinetics.		124020	9966	2	2003	This indicates that both CYP2C enzymes contribute to the demethylation of desmethyltrimipramine and CYP2D6 to further metabolism.	Cohort 42 healthy volunteers 	trimipramine									
120828		arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Scordo, M. G.  et al. 2004	15177309				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Caucasian		CDC GDPinfo	1557	Hs.282409			Pharmacological research. 2004 Aug;50(2):195-200	Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population.		124020	9968	2	2004	Frequencies of both CYP2C9 and CYP2C19 allelic variants, as well as CYP2D6 detrimental alleles, in Italian subjects were similar to those of other Caucasian populations. Conversely, the prevalence of CYP2D6 gene duplication among Italians resulted very high, confirming the higher frequency of CYP2D6 UM in the Mediterranean area compared to Northern Europe.	Cohort 360 unrelated healthy Italian volunteers (210 males and 150 females, aged 19-52 years) Italy 										
120823		liver disease, chronic and cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ohnishi, A.  et al. 2005	16239354				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of clinical pharmacology. 2005 Nov;45(11):1221-9	In Vivo Metabolic Activity of CYP2C19 and CYP3A in Relation to CYP2C19 Genetic Polymorphism in Chronic Liver Disease.		124020	9909	2	2005												
120824		arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Griese, E. U.  et al. 2001	11207032				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Australian		CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2001 Feb;11(1):69-76	Allele and genotype frequencies of polymorphic cytochromes P4502D6, 2C19 and 2E1 in aborigines from western Australia		124020	9958	2	2001	For CYP2D6 and CYP2C19, allele frequencies and predicted phenotypes differed significantly from those for Caucasians but were similar to those for Orientals indicating a close relationship to East Asian populations.	Cohort people living in the far north of Western Australia Australia 										
120825		psychiatric disorders	PSYCH	PSY	Mental Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Dandara, C.  et al. 2001	11372584				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	African		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2001 Apr;57(1):7-Nov	Genetic polymorphism of CYP2D6 and CYP2C19 in east- and southern African populations including psychiatric patients.		124020	9959	2	2001	 The genotype results predict a low prevalence of people with deficient CYP2D6 and CYP2C19 activity among linguistically (Bantu) related populations of East and Southern Africa. The high frequency of the low-activity CYP2D6*17 allele predicts that the Bantu people have a reduced capacity to metabolise drugs that are CYP2D6 substrates.	Case:176 psychiatric patients South Africa (Venda), Tanzania, and Zimbabwe;Control:212 healthy individuals South Africa (Venda), Tanzania, and Zimbabwe										
120820		gastroesophageal reflux disease	UNKNOWN	UNK	Gastroesophageal Reflux|Esophagitis, Peptic|Recurrence	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ohkusa, T.  et al. 2005	15932363				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2005 Jun;21(11):1331-9	Effect of CYP2C19 polymorphism on the safety and efficacy of omeprazole in Japanese patients with recurrent reflux oesophagitis.		124020	9906	2	2005	 Long-term treatment with omeprazole was well-tolerated in Japanese patients, irrespective of their cytochrome P450 2C19 metabolic genotype, indicating that dose adjustment depending on metabolic genotype is not required during treatment with omeprazole.	Cohort 119 Japanese patients with recurrent reflux esophagitis 	omeprazole									
120821		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2005	15952098				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical gastroenterology and hepatology. 2005 Jun;3(6):564-73	Influence of CYP2C19 polymorphism and Helicobacter pylori genotype determined from gastric tissue samples on response to triple therapy for H pylori infection.		124020	9907	2	2005	 SNPs of CYP2C19 and 23S rRNA of H pylori using RUT-positive gastric mucosal samples could be predictable determinants for H pylori eradication by triple therapy.		amoxycillin clarithromycin lansoprazole									
120822		glyburide pharmacokinetics	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yin, O. Q.  et al. 2005	16198656				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2005 Oct;78(4):370-7	CYP2C9, but not CYP2C19, polymorphisms affect the pharmacokinetics and pharmacodynamics of glyburide in Chinese subjects.		124020	9908	2	2005	 CYP2C9, but not CYP2C19, polymorphism appears to exert a dominant influence on glyburide pharmacokinetics and pharmacodynamics in vivo. Further studies in diabetic patients with long-term dosing are warranted to confirm these findings.											
120817		phenytoin	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ding, H. W.  et al. 2004	15639978				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Yi chuan. 2004 Mar;26(2):151-4	[Cytochrome P450 2C19 Gene Polymorphism in 104 Chinese Zang Volunteers.]		124020	9903	2	2004	The frequency of CYP2C19(m1) allele was 0.308, which was in agreement with that in other published data.	Cohort 104 unrelated volunteer Zang subjects China 										
120818		hypertension; H. pylori infection	CARDIOVASCULAR	CARD		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Jose, R.  et al. 2005	15660966				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Fundamental & clinical pharmacology. 2005 Feb;19(1):101-5	CYP2C9 and CYP2C19 genetic polymorphisms:frequencies in the south Indian population.		124020	9904	2	2005	The frequency of CYP2C9*2 mutant alleles in south Indians was higher than in Chinese and Caucasians, while CYP2C9*3 was similar to Caucasians. CYP2C19*2 was higher than in other major populations reported so far. The relatively high CYP2C19 poor-metabolizer genotype frequency of 12.6% indicates that over 28 million south Indians are poor metabolizers of CYP2C19 substrates.	Cohort unrelated, healthy volunteers from the three south Indian states of Andhra Pradesh, Karnataka and Kerala south India 										
120819		lung cancer; esophageal cancer; stomach cancer; bladder cancer; warfarin sensitivity	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bravo-Villalta, H. V.  et al. 2005	15776277				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	South American		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 May;61(3):179-84	Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative andcomparative study		124020	9905	2	2005	 This is the first study to investigate a South American population for genetic polymorphism in the CYP2C subfamily. The Bolivian population differs from most other ethnic groups in the incidence of CYP2C9 and CYP2C19 common variants that might be influenced by its admixture characteristics.	Cohort Bolivian individuals Bolivia 										
120815	Y	phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Huang, Y.  et al. 2004	15569425				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Zhonghua yi xue za zhi. 2004 Oct;84(20):1686-9	[Association between genetic polymorphisms of CYP2C19 and CYP2C9 and phenytoin serum concentration]		124020	9901	2	2004	 Phenytoin is metabolized via CYP2C19 and CYP2C9. The PHT serum concentration of the PM is significantly higher. Genotyping helps predict the clinical response to PHT administration.	Cohort 200 patients with epilepsy, aged 2-68 										
120816		lung cancer; esophageal cancer; stomach cancer; bladder cancer	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Niu, C. Y.  et al. 2004	15612662				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Chinese journal of digestive diseases. 2004 ;5(2):76-80	Genetic polymorphism analysis of cytochrome P4502C19 in Chinese Uigur and Han populations		124020	9902	2	2004	 The results indicate that the distribution frequency of the poor and the extensive metabolizers in the Uigur population is significantly lower and higher, respectively (P < 0.025), than in the Han population. There are significant differences between the Uigur and Han populations regarding the CYP2C19 allele frequency, which is consistent with results for the Caucasian population. On the other hand, there are significant interethnic differences when the Uigur population is compared with the Miao and Dai populations.	Cohort 96/104 Uigur (n=96) and Han (n=104) healthy unrelated subjects China 										
120811	N	phenytoin	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Fu, L. Q.  et al. 2004	15171646				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Yao xue xue bao. 2004 Mar;39(3):161-3	[Comparison of genetic polymorphism of cytochrome CYP2C19 between men and women in Chinese population]		124020	9897	2	2004	 There is no statistical difference in ocurance of wt/wt and m1/m1 between in male and in female, so gender have no significant effect on genetic polymorphism of cytochrome CYP2C19.	Cohort 140 healthy Chinese 										
120812		psychiatric disorders	PSYCH	PSY		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yang, Y. S.  et al. 2004	15327595				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Malaysian		CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2004 Sep;58(3):332-5	Genetic polymorphism of cytochrome P450 2C19 in healthy Malaysian subjects.		124020	9898	2	2004	 Phenotyping and genotyping revealed significant differences in the prevalence rates among the three ethnic groups in Malaysia, with Chinese recording highest prevalence.	Cohort 142 healthy, unrelated Malaysians aged 18-29 years Malaysia 										
120813		H. pylori infection	INFECTION	INF	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Schwab, M.  et al. 2004	15371981				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2004 Sep;76(3):201-9	CYP2C19 polymorphism is a major predictor of treatment failure in white patients by use of lansoprazole-based quadruple therapy for eradication of Helicobacter pylori.		124020	9899	2	2004	 Eradication rates of H pylori highly depend on CYP2C19 in white patients if standard doses of lansoprazole (30 mg twice daily) are administered within a quadruple regimen. Because wt/wt individuals have lower eradication rates and lower serum concentrations of lansoprazole, these patients might benefit from a higher proton pump inhibitor dosage.	Cohort 131 H pylori -positive white (German) patients treated by quadruple therapy including lansoprazole (30 mg twice daily for 5 days) 	lansoprazole									
120808		intragastric acidity	OTHER	OTH	Duodenal Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Wang, H.  et al. 2003	14636465				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2003 Nov;42(11):777-80	[The effect of proton pump inhibitor on intragastric acidity and it relation to S-mephenytoin hydroxylase genetic polymorphism]		124020	9894	2	2003	 The effect of Rab on control of intragastric pH was less affected by an individual's CYP2C19 status. Both Rab and Ome could not overcome NAB, but Rab could shorten the sustaining time of nocturnal acid breakthrough.	Cohort 30 duodenal ulcer patients 	omeprazole rabeprazole									
120809		periodontitis	IMMUNE	IMM	Gingival Hypertrophy|Epilepsy|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Soga, Y.  et al. 2004	14659971				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Life sciences. 2004 Jan;74(7):827-34	CYP2C polymorphisms, phenytoin metabolism and gingival overgrowth in epileptic subjects.		124020	9895	2	2004	Therefore, we concluded although the gene analysis is not directly related to diagnose the disease itself, it can be utilized in estimating serum phenytoin concentration from drug dose, which in turn serves to predict the future development and clinical course of the disease.	Case:28 epileptic patients taking phenytoin;Control:56 unrelated healthy subjects	phenytoin									
120810		H. pylori infection	INFECTION	INF	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		He, X. X.  et al. 2004	14990013				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese	China	CDC GDPinfo	1557	Hs.282409			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Jan;43(1):13-5	[Effect of CYP2C19 genetic polymorphism on treatment efficacy of Helicobacter pylori infection with rabeprazole-based triple therapy in Chinese]		124020	9896	2	2004	 The efficacy of rabeprazole-based triple regimens is less affected by the CYP2C19 genotype, the RAC regimen can be considered in Chinese.	Cohort 128 subjects with Hp positive gastritis or peptic ulcers 	amoxycillin clarithromycin metronidazole rabeprazole									
120805		gastric ulcer, HIV, malaria	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Adithan, C.  et al. 2003	12919183				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Indian		CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2003 Sep;56(3):331-3	Allele and genotype frequency of CYP2C19 in a Tamilian population.		124020	9891	2	2003	 The distribution of CYP2C19*1/*1 in the Tamilian population is lower than that in Caucasians, Africans and the North Indian population. The CYP2C19*1/*2 is significantly higher in Tamilians when compared with other populations. The CYP2C19*1/*3 allele, which was not reported in the North Indian and Caucasian populations has been identified in 2.7% of the Tamilian population.	Cohort 112 unrelated heatlhy Tamilian human volunteers 										
120806		depression	PSYCH	PSY		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Masta, A.  et al. 2003	14583683				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2003 Nov;13(11):697-700	Analysis of Sepik populations of Papua New Guinea suggests an increase of CYP2C19 null allele frequencies during the colonization of Melanesia.		124020	9892	2	2003	This study highlights the medical consequences of population origins and the need for a better understanding of the genetic diversity of our global species.	Cohort three malarious populations from inland East Sepik Province, Papua New Guinea East Sepik Province, Papua New Guinea 										
120807	Y	lung cancer	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Allabi, A. C.  et al. 2003	14616425				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			British journal of clinical pharmacology. 2003 Dec;56(6):653-7	Genetic polymorphisms of CYP2C9 and CYP2C19 in the Beninese and Belgian populations.		124020	9893	2	2003	 Differences of allele frequencies between Beninese and Belgian populations were statistically significant for CYP2C9*2, *3, *5 and *11, but not for CYP2C9*4 or for CYP2C19*2 and *3.	Cohort 111/121 Beninese (n=111) and Belgian (n=121) Caucasian populations 										
120802	Y	ulcer, gastric	UNKNOWN	UNK	Stomach Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Wada, F.  et al. 2002	12235924				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			The Journal of international medical research. 2002 Jul-Aug;30(4):413-21	Polymorphism of CYP2C19 and gastric emptying in patients with proton pump inhibitor-resistant gastric ulcers.		124020	9888	2	2002	Our results suggest that rate of gastric emptyiYg, but Yot CYP2C19 polymorphism, is likely to be aY importaYt factor iY the delayed healiYg of patieYts with PPI-resistaYt gastric ulcer.	Control:46 healthy volunteers;Case:7/21 patients with proton pump inhibitor (PPI)-resistant ulcers (n=7) and with PPI-sensitive ulcers (n=21)										
120803		anticoagulant complications	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Scordo, M. G.  et al. 2002	12496751				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Clinical pharmacology and therapeutics. 2002 Dec;72(6):702-10	Influence of CYP2C9 and CYP2C19 genetic polymorphisms on warfarin maintenance dose and metabolic clearance.		124020	9889	2	2002	 CYP2C9 genetic polymorphisms markedly influence warfarin dose requirements and metabolic clearance of the S-warfarin enantiomer, although nongenetic factors may also contribute to their large interindividual variability.	Cohort 93 Italian outpatients receiving long-term warfarin anticoagulant therapy 	warfarin									
120804	Y	esophagitis	OTHER	OTH	Gastroesophageal Reflux|Esophagitis, Peptic	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kawamura, M.  et al. 2003	12656699				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2003 Apr;17(7):965-73	The effects of lansoprazole on erosive reflux oesophagitis are influenced by CYP2C19 polymorphism.		124020	9890	2	2003	 The therapeutic effect of lansoprazole on erosive reflux oesophagitis is influenced by the CYP2C19 genotype status. Therefore, a test of CYP2C19 genotype may be useful for the medical treatment of reflux oesophagitis with lansoprazole.	Cohort 88 Japanese patients with erosive reflux esophagitis 	lansoprazole									
120799		Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Dojo, M.  et al. 2001	11785712				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Japan	CDC GDPinfo	1557	Hs.282409			Digestive and liver disease. 2001 Nov;33(8):671-5	Effects of CYP2C19 gene polymorphism on cure rates for Helicobacter pylori infection by triple therapy with proton pump inhibitor (omeprazole or rabeprazole), amoxycillin and clarithromycin in Japan.		124020	9885	2	2001	 Triple therapy with proton pump inhibitor (omeprazole or rabeprazole), amoxycillin, and clarithromycin is sufficiently effective in cure of Helicobacter pylori infection regardless of CYP2C19 status.	Cohort 170 Helicobacter pylori-positive patients with chronic gastritis 	amoxycillin clarithromycin proton pump inhibitor									
120800		phenytoin	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Zhang, S.  et al. 2002	11836688				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Chinese		CDC GDPinfo	1557	Hs.282409			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):52-4	[Cytochrome P450 2C19 gene polymorphism in four Chinese nationality populations]		124020	9886	2	2002	 The frequencies of CYP2C19*2 were in agreement with those of other published data on Asian, but were different from those data on European and African.	Cohort sample from 4 Chinese nationality populations (Miao, Buyi, Tu and Dulong) 										
120801		depression	PSYCH	PSY		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Tassaneeyakul, W.  et al. 2002	11927837				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Thai		CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2002 Apr;12(3):221-5	Analysis of the CYP2C19 polymorphism in a North-eastern Thai population.		124020	9887	2	2002	The PM phenotype and the frequencies of CYP2C19 defective alleles in Thais, particularly CYP2C19*3, were lower than those observed in other Oriental populations. It is noteworthy that there was a case of nonaccordance between phenotype and genotype in one of the PMs. Whether this PM represents a novel defective allele requires further investigation.	Cohort 107 North-eastern Thai subjects 										
120796		lung cancer; esophageal cancer; stomach cancer; bladder cancer	CANCER	CAN	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yamada, S.  et al. 2001	11686476				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Asia	CDC GDPinfo	1557	Hs.282409			Journal of gastroenterology. 2001 Oct;36(10):669-72	Genetic differences in CYP2C19 single nucleotide polymorphisms among four Asian populations		124020	9882	2	2001	 Many factors, including CYP2C19 polymorphisms, affect the success rate of Helicobacterpylori eradication with PPI-based therapy. We suspect that CYP2C19 polymorphisms may not be the main factor associated with differences among these four Asian populations in the success rates of H. pylori eradication with PPI-based therapy.	Cohort Japanese, Chinese, Thai, and Vietnamese populations 										
120797	N	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Peptic Ulcer|Dyspepsia	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miwa, H.  et al. 2001	11713950				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Digestive diseases and sciences. 2001 Nov;46(11):2445-50	Clarithromycin resistance, but not CYP2C-19 polymorphism, has a major impact on treatment success in 7-day treatment regimen for cure of H. pylori infection: a multiple logistic regressionanalysis		124020	9883	2	2001	These observations indicate only clarithromycin susceptibility, not CYP2C-19 polymorphism, has a major impact on the treatment success when using a seven-day OAC H. pylori treatment regimen.	Cohort 156 H. pylori-positive peptic ulcer or NUD patients who presented to our university hospital 	amoxycillin clarithromycin omeprazole									
120798	N	visual disorder	UNKNOWN	UNK	Vision Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Lutz, M.  et al. 2002	11773867				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Pharmacogenetics. 2002 Jan;12(1):73-5	Visual disorders associated with omeprazole and their relation to CYP2C19 polymorphism.		124020	9884	2	2002	The PM genotype does not appear to be a risk factor for omeprazole-associated visual disorders.	Cohort 29 patients not otherwise specified in abstract 	omeprazole									
120793		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Central Nervous System Diseases	19	19q13.2	CYP2B6	46189043	46216141		Haas, D. W.  et al. 2004	15622315				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	African American		CDC GDPinfo	1555	Hs.1360			AIDS (London, England). 2004 Dec;18(18):2391-400	Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical TrialsGroup study.		123930	20980	2	2004	 A CYP2B6 allelic variant that is more common in African-Americans than in Europeans-Americans was associated with significantly greater efavirenz plasma exposure during HIV therapy. Inter-individual differences in metabolism may, in part, explain susceptibility to efavirenz central nervous system side effects.	Cohort 89/50/15 European-Americans (n=89), African-Americans (n=50) and Hispanics (n=15) HIV infected subjects in a 24 week cohort 										
120794		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kortunay S 1999	10364917				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104			Y Wang	1557	Hs.282409			Annals of the rheumatic diseases. 1999 Mar;58(3):182-5	CYP2C19 genotype does not represent a genetic predisposition in idiopathic systemic lupus erythematosus.		124020	1606	1	1999	 The results of this study indicate that CYP2C19 genotype does not represent a genetic predisposition in idiopathic SLE patients.											
120795		lung cancer; liver cancer	CANCER	CAN		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bozina N 2003	12950145				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	croatian		KGB	1557	Hs.282409			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9, CYP2C19~~~ and CYP2D6 in Croatian population.		124020	1607	1	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia										
120790		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome	19	19q13.2	CYP2B6	46189043	46216141			16392089				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Clinical infectious diseases. 2006 Feb;42(3):401-7	Pharmacogenetics of plasma efavirenz exposure after treatment discontinuation: an Adult AIDS ClinicalTrials Group Study		123930	16084	2	2006	 The CYP2B6 position 516 TT genotype or a prolonged measured elimination half-life may predict increased risk of developing drug resistance among patients who discontinue efavirenz-containing regimens. This has implications for strategies to safely discontinue antiretroviral regimens while avoiding the emergence of drug resistance.											
120791		tamoxifen, metabolism	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Coller, J. K.  et al. 2002	12207635				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			British journal of clinical pharmacology. 2002 Aug;54(2):157-67	The influence of CYP2B6, CYP2C9 and CYP2D6 genotypes on the formation of the potent antioestrogen Z-4-hydroxy-tamoxifen in human liver		123930	16193	2	2002	 CYP2B6, CYP2C9 and CYP2D6 genotypes all affected Z-4-hydroxy-tamoxifen formation and can predict individual ability to catalyse this reaction.	Cohort 50 human liver samples 	tamoxifen									
120792		HIV	INFECTION	INF	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Haas, D. W.  et al. 2005	16267764				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			The Journal of infectious diseases. 2005 Dec;192(11):1931-42	Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials GroupStudy.		123930	20979	2	2005	 Genetic variants predict plasma exposure to efavirenz and nelfinavir, and they may predict virologic failure and/or emergence of drug-resistant virus. These associations with treatment responses must be validated in other studies.		efavirenz nelfinavir									
120787		mephobarbital metabolism	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Kobayashi, K.  et al. 2004	15284537				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Pharmacogenetics. 2004 Aug;14(8):549-56	Pharmacogenetic roles of CYP2C19 and CYP2B6 in the metabolism of R- and S-mephobarbital in humans		123930	16081	2	2004	 Our results indicate that the 4'-hydroxylation of R-MPB is mediated via CYP2C19 and that the rapid 4'-hydroxylation of R-MPB results in a marked difference in the pharmacokinetic profiles between R-MPB and S-MPB in the different CYP2C19 genotypic individuals. In addition, a minor fraction of the interindividual variability in PB formation from MPB may be explainable by the CYP2B6*6 allele.	Cohort 9/10/11 9 homozygous extensive metabolizers of CYP2C19, 10 heterozygous Ems, and 11 poor metabolizers recruited from a Japanese population, 	mephobarbital									
120788	Y	cyclophosphamide phamacokinetics	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Timm, R.  et al. 2005	16116487				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			The pharmacogenomics journal. 2005 ;5(6):365-73	Association of cyclophosphamide pharmacokinetics to polymorphic cytochrome P450 2C19.		123930	16082	2	2005												
120789		cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Hematologic Neoplasms	19	19q13.2	CYP2B6	46189043	46216141		Xie, H.  et al. 2005	16183265				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			European journal of pharmaceutical sciences. 2006 Jan;27(1):54-61	Pharmacogenetics of cyclophosphamide in patients with hematological malignancies.		123930	16083	2	2005												
120784	Y	cyclophosphamide bioactivation	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Xie, H. J.  et al. 2003	12629583				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			The pharmacogenomics journal. 2003 ;3(1):53-61	Role of polymorphic human CYP2B6 in cyclophosphamide bioactivation		123930	16078	2	2003	Our results demonstrate that the polymorphic CYP2B6 is a major enzyme in the bioactivation of CPA. Moreover, we identified a strong impact of CYP2B6*6 on CPA 4-hydroxylation.	Cohort 67 human liver specimens 										
120785		HIV	INFECTION	INF	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Tsuchiya, K.  et al. 2004	15194512	CYP2B6 *6 (Q172H and K262R)			Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Biochemical and biophysical research communications. 2004 Jul;319(4):1322-6	Homozygous CYP2B6 *6 (Q172H and K262R) correlates with high plasma efavirenz concentrations in HIV-1 patients treated with standard efavirenz-containing regimens.		123930	16079	2	2004	EFV dose could be decreased in those patients harboring the genotype to reduce toxicity with compromising potency, representing the first step of the Tailor-Made therapy of HIV-1 infection.	Cohort 35 EFV-treated HIV-1 patients in International Medical Center of Japan. Japan 	efavirenz									
120786		premature ovarian failure; lupus nephritis	REPRODUCTION	REP	Lupus Nephritis|Kidney Failure, Chronic|Ovarian Failure, Premature	19	19q13.2	CYP2B6	46189043	46216141		Takada, K.  et al. 2004	15248218				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Arthritis and rheumatism. 2004 Jul;50(7):2202-10	Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.		123930	16080	2	2004	 Determination of selected cytochrome P450 enzyme genotypes may be valuable for predicting the risk of premature ovarian failure in lupus nephritis patients treated with cyclophosphamide. The association of these genotypes with renal response needs further validation.	Cohort 62 patients with proliferative lupus nephritis treated with cyclophosphamide 	cyclophosphamide									
120781		efavirenz toxicity; nevirapine toxicity	PHARMACOGENOMIC	PHARM	HIV Infections|HIV Seropositivity	19	19q13.2	CYP2B6	46189043	46216141		Rotger, M.  et al. 2005	15864119				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Pharmacogenetics and genomics. 2005 Jan;15(1):5-Jan	Influence of CYP2B6 polymorphism on plasma and intracellular concentrations and toxicity of efavirenz and nevirapine in HIV-infected patients.		123930	9881	2	2005	 CYP2B6 516TT was associated with greater plasma and intracellular exposure to EFV, and greater plasma exposure to NVP. Intracellular drug concentration, and CYP2B6 genotype were predictors of EFV neuropsychological toxicity. CYP2B6 genotyping may be useful to complement an individualization strategy based on plasma drug determinations to increase the safety and tolerability of EFV.	Cohort 167/59 participants receiving EFV (n=167) and receiving NVP (n=59) recruited within the genetics project of the Swiss HIV Cohort Study 										
120782		styrene toxicity	UNKNOWN	UNK		19	19q13.2	CYP2B6	46189043	46216141		Ma, M.  et al. 2005	16125881				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		123930	10988	2	2005			smoking (tobacco)									
120783		smoking behavior	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2B6	46189043	46216141		Lerman, C.  et al. 2002	12439223				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Pharmacogenetics. 2002 Nov;12(8):627-34	Pharmacogenetic investigation of smoking cessation treatment.		123930	16077	2	2002	We conclude that  smokers with the CYP2B6 variant may be more vulnerable to abstinence symptoms and relapse. Bupropion may attenuate these effects, especially among females. Additional trials are warranted to confirm these results, as are studies to explore the neurobiological mechanisms. Such research could ultimately enable practitioners to select the optimal type and dose of medication for individual smokers.	Cohort 426 smokers of European Caucasian ancestry 	bupropion									
120778		bupropion pharmacokinetics	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	19	19q13.2	CYP2B6	46189043	46216141		Kirchheiner, J.  et al. 2003	14515060				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Pharmacogenetics. 2003 Oct;13(10):619-26	Bupropion and 4-OH-bupropion pharmacokinetics in relation to genetic polymorphisms in CYP2B6.		123930	9878	2	2003	Only a minor fraction of the variability in bupropion and hydroxybupropion kinetics could be explained by the known CYP2B6 amino acid variants, in particular by the CYP2B6*4 allele. The role of this allele should also be studied in other CYP2B6 substrates, including cyclophosphamide, halothane, mianserin, promethazine and propofol.	Cohort 121 healthy male volunteers 	bupropion									
120779		HIV	INFECTION	INF		19	19q13.2	CYP2B6	46189043	46216141		Jacob, R. M.  et al. 2004	15178651				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDPinfo	1555	Hs.1360			Clinical chemistry. 2004 Aug;50(8):1372-7	Identification of CYP2B6 sequence variants by use of multiplex PCR with allele-specific genotyping.		123930	9879	2	2004	 This method is simple, reliable, rapid, and amenable to automation and could facilitate the large-scale genotypic analysis of CYP2B6.	Cohort a Caucasian population 										
120780		premature ovarian failure; lupus nephritis	REPRODUCTION	REP		19	19q13.2	CYP2B6	46189043	46216141		Cho, J. Y.  et al. 2004	15383491				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Korean		CDC GDPinfo	1555	Hs.1360			Drug metabolism and disposition:  the biological fate of chemicals. 2004 Dec;32(12):1341-4	Haplotype structure and allele frequencies of CYP2B6 in a Korean population.		123930	9880	2	2004	In conclusion, we found 11 previously described polymorphisms and identified four major haplotypes of CYP2B6 in Koreans. The frequencies of the *1J or *6B alleles, which may reduce CYP2B6 enzyme expression, were found to be significantly different between Koreans and Caucasians.	Cohort individuals in a Korean population 										
120775		CYP2A6	METABOLIC	MET		19	19q13.2	CYP2A7	46073183	46226008		Oscarson, M.  et al. 2002	12325023				Cytochrome P450, family 2, subfamily A, polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000764.2	Chinese		CDC GDPinfo	1549	Hs.250615			Human mutation. 2002 Oct;20(4):275-83	Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity		608054	20977	2	2002	The CYP2A6(*)12 allele was present at an allele frequency of 2.2% among Spaniards, but was absent in Chinese.	Cohort 97/92 unrelated Chinese individuals (n=97) and unrelated volunteers from the Zaragoza area in northern Spain Spain, China 										
120776		smoking	CHEMDEPENDENCY	CHEM	Alcoholism	19	19q13.2	CYP2B6	46189043	46216141		Miksys S 2003	12814665				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			KGB	1555	Hs.1360			Neuropharmacology. 2003 Jul;45(1):122-32	Smoking, alcoholism and genetic polymorphisms alter CYP2B6 levels in human brain.		123930	1605	1	2003												
120777		prostate cancer; liver function	CANCER	CAN		19	19q13.2	CYP2B6	46189043	46216141		Hiratsuka, M.  et al. 2002	12242601				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Japanese		CDC GDPinfo	1555	Hs.1360			European journal of clinical pharmacology. 2002 Sep;58(6):417-21	Allele and genotype frequencies of CYP2B6 and CYP3A5 in the Japanese population.		123930	9877	2	2002	 Our results contribute to a better understanding of the molecular basis of ethnic differences in drug response, which may help to improve individualization of drug therapy and offer a preliminary basis for more rational use of drugs that are substrates for CYP2B6 and CYP3A5 in the Japanese population.	Cohort 265 unrelated Japanese subjects 										
120772		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Sepehr, A.  et al. 2004	15327835				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	1548	Hs.439056			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		122720	26830	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
120773		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Malats, N.   2001	12120227				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		122720	27400	2	2001	Review article		alcohol smoking (tobacco)									
120774		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		122720	27401	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
120770		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Xing, D.  et al. 2003	12883749				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Chinese	China	CDC GDPinfo	1548	Hs.439056			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		122720	24237	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
120771		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4		England	CDC GDPinfo	1548	Hs.439056			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		122720	25924	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
120766		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Batra, V.  et al. 2003	12740294				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		122720	20974	2	2003	Review article											
120767		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		122720	20975	2	2002	Review article		smoking (tobacco)									
120768		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Mochizuki, J.  et al. 2005	16048566				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Journal of gastroenterology and hepatology. 2005 Aug;20(8):1191-7	Genetic polymorphisms of cytochrome P450 in patients with hepatitis C virus-associated hepatocellular carcinoma.		122720	20976	2	2005	 There is no statistically significant difference in genetic mutant alleles between the two groups, except for the genotype of CYP2A6*4A homozygous. The frequency of this genotype in the HCC patients (0.144) is significantly higher than that in healthy Japanese (0.034; P < 0.05; odds ratio 3.36). The clinical significance related to HCC is unknown. Further evaluation of CYP2A6*4A (deletion type) in HCV-related HCC patients is required.											
120763	Y	CYP2A6 phenotype	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2A6	46041283	46048180		Haberl, M.  et al. 2005	16041240				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Pharmacogenetics and genomics. 2005 Sep;15(9):609-24	Three haplotypes associated with CYP2A6 phenotypes in Caucasians.		122720	16076	2	2005	A CYP2A6*1A-like allele and alleles *9B and *12B are major genetic determinants of CYP2A6 phenotype variation in Caucasians											
120764		nicotine dependence; cotinine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Huang, S.  et al. 2005	16272956				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Pharmacogenetics and genomics. 2005 Dec;15(12):839-50	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.		122720	16427	2	2005	 CYP2A6 haploinsufficiency increases likelihood of continuing smoking in teenagers. We hypothesize an explanatory 'occupancy' model to explain why haploinsufficiency results in faster progression to nicotine dependence, but lower subsequent consumption.											
120765		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Munafo, M.  et al. 2004	15370155				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Nicotine & tobacco research. 2004 Aug;6(4):583-97	The genetic basis for smoking behavior: asystematic review and meta-analysis.		122720	19528	2	2004	The evidence for a contribution of specific genes to smoking behavior remains modest. Implications for the design of future studies are discussed, such as the need for the development of more specific phenotypes to increase the genetic signal in candidate gene studies.	Cohort individuals from 28 studies on smoking behavior 										
120760		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Swan, G. E.  et al. 2005	15861035				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Pharmacogenetics and genomics. 2005 Feb;15(2):115-25	Nicotine metabolism: the impact of CYP2A6 onestimates of additive genetic influence.		122720	16073	2	2005												
120761		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Mwenifumbo, J. C.  et al. 2005	15861044				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Canadian		CDC GDPinfo	1548	Hs.439056			Pharmacogenetics and genomics. 2005 Mar;15(3):189-92	Ethnic variation in CYP2A6*7, CYP2A6*8 and CYP2A6*10 as assessed with a novel haplotyping method.		122720	16074	2	2005	Our new method demonstrated higher frequencies of CYP2A6*7 and CYP2A6*10, and a lower frequency of CYP2A6*8 in Asian populations, but no significant change of allele frequencies in Caucasian or African-Canadian populations.	Cohort 112/221/319/207/64/110/113 Chinese-Canadian (n=112), Chinese-American (n=221), Taiwanese (n=319), Korean-American (n=207) and Japanese-Canadian (n=64), Caucasian (n=110) and African-Canadian (n=113) 										
120762		smoking behavior	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Gambier, N.  et al. 2005	15940289				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	French		CDC GDPinfo	1548	Hs.439056			The pharmacogenomics journal. 2005 ;5(4):271-5	Association of CYP2A6*1B genetic variant with the amount of smoking in French adults from the Stanislas cohort.		122720	16075	2	2005												
120757		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Carter, B.  et al. 2004	15203795				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Nicotine & tobacco research. 2004 Apr;6(2):221-7	A meta-analytic review of the CYP2A6 genotype and smoking behavior.		122720	16070	2	2004	What role, if any, the CYP2A6 gene plays in smoking behavior will be understood only if future research addresses these methodological concerns.	Control nonsmokers from 11 studies;Case smokers from 11 studies										
120758		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Schoedel, K. A.  et al. 2004	15475735				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Caucasian		CDC GDPinfo	1548	Hs.439056			Pharmacogenetics. 2004 Sep;14(9):615-26	Ethnic variation in CYP2A6 and association of genetically slow nicotine metabolism and smoking in adult Caucasians.		122720	16071	2	2004	This study demonstrates that slow nicotine inactivators are less likely to be adult smokers (dependent or non-dependent). Slow inactivators also smoked fewer cigarettes per day and had an earlier age of first smoking (only dependent smokers).	Cohort Chinese, Japanese, Canadian Native Indian, African-North American and Caucasian DNA samples Cohort 224/375 adult Caucasian smokers (n = 224) (1-99 cigarettes/lifetime) and smokers (n = 375) (>/= 100 cigarettes/lifetime) 	smoking (tobacco)									
120754	Y	gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Tsukino, H.  et al. 2002	12115524				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		CDC GDPinfo	1548	Hs.439056			International journal of cancer. Journal international du cancer. 2002 Aug;100(4):425-8	Effects of cytochrome P450 (CYP) 2A6 gene deletion and CYP2E1 genotypes on gastric adenocarcinoma.		122720	16067	2	2002	These results suggest that the CTY2A6 deletion is associated with gastric adenocarcinoma among Japanese populations.	Case:120 Japanese patients with gastric adenocarcinoma;Control:158 healthy controls	smoking (tobacco)									
120755		lung cancer; nicotine	CANCER	CAN	Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Xu, C.  et al. 2002	12406643				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Advanced drug delivery reviews. 2002 Nov;54(10):1245-56	CYP2A6 genetic variation and potential consequences		122720	16068	2	2002	Review article		smoking (tobacco)									
120756	N	smoking behavior	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180		Ando, M.  et al. 2003	12749606				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		CDC GDPinfo	1548	Hs.439056			Journal of epidemiology. 2003 May;13(3):176-81	Association of CYP2A6 gene deletion with cigarette smoking status in Japanese adults		122720	16069	2	2003	 Despite the possible protection against active smoking behavior in subjects homozygous for the deletion allele, the CYP2A6 polymorphism has only a limited impact on public health because no protective effect was found in heterozygous subjects.	Cohort 240 Japanese adults, who visited Aichi Cancer Center as outpatients Japan 										
120752	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Tyndale, R. F.  et al. 2001	11259349			coding sequence	Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Apr;29(4 Pt 2):548-52	Variable cyp2a6-mediated nicotine metabolism alters smoking behavior and risk		122720	16065	2	2001	Both kinetic and behavioral experiments in human smokers demonstrated that inhibiting CYP2A6 in vivo decreased nicotine metabolism and smoking behavior.	Cohort 400 males and females, heavy and light smokers 	smoking behavior									
120753	Y	oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Topcu, Z.  et al. 2002	11960911				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4		Sri Lanka	CDC GDPinfo	1548	Hs.439056			Carcinogenesis. 2002 Apr;23(4):595-8	CYP2A6 gene deletion reduces oral cancer risk in betel quid chewers in Sri Lanka		122720	16066	2	2002	Our data suggest that deficient CYP2A6 activity due to genetic polymorphism reduces oral cancer risk in betel quid chewers.	Control:135 control subjects with no lesions;Case:286 subjects showing oral malignant or premalignant:lesions Sri Lanka	betel quid									
120748		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Kamataki, T.  et al. 2005	16176798				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Biochemical and biophysical research communications. 2005 Dec;338(1):306-10	Genetic polymorphism of CYP2A6 as one of the potential determinants of tobacco-related cancer risk.		122720	9873	2	2005												
120749		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	19	19q13.2	CYP2A6	46041283	46048180			16377082				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Cancer letters. 2005	Cytochrome P450 2A6 polymorphism in nasopharyngeal carcinoma		122720	9874	2	2005												
120750		tobacco dependence	UNKNOWN	UNK	Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180		Zabetian CP  et al. 2000	11054771				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			American journal of medical genetics. 2000 Oct;96(5):638-45	Functional variants at CYP2A6: new genotypingmethods, population genetics, and relevance to studies of tobacco dependence.		122720	16063	2	2000	In the population study, we found consistently low allele frequencies (	Cohort samples from six populations 										
120745		enzyme activity	METABOLIC	MET		19	19q13.2	CYP2A6	46041283	46048180		Fukami, T.  et al. 2004	15592323				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Clinical pharmacology and therapeutics. 2004 Dec;76(6):519-27	A novel polymorphism of human CYP2A6 gene CYP2A6*17 has an amino acid substitution (V365M) that decreases enzymatic activity in vitro and in vivo.		122720	9870	2	2004	We found a novel allele in black subjects that affects the nicotine metabolism in vitro and in vivo.	Cohort 96/163/92/209 black subjects (n = 96), white subjects (n = 163), Japanese subjects (n = 92), and Korean subjects (n = 209) 										
120746	Y	smoking behavior	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Gyamfi, M. A.  et al. 2005	15660270				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Ghanaian		CDC GDPinfo	1548	Hs.439056			European journal of clinical pharmacology. 2005 Feb;60(12):855-7	High prevalence of cytochrome P (450) 2A6*1A alleles in a black African population of Ghana		122720	9871	2	2005	 This study provides, for the first time, the results of the analysis of CYP2A6 allele frequency in black African populations and confirms large ethnic differences in the polymorphic CYP2A6 gene.	Cohort 120 black Africans- including 105 Ghanaians, 12 Nigerians, 2 Ivorians and 1 Ugandan 										
120747		enzyme activity	METABOLIC	MET		19	19q13.2	CYP2A6	46041283	46048180		Fukami, T.  et al. 2005	15993850				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	African American		CDC GDPinfo	1548	Hs.439056			Biochemical pharmacology. 2005 Sep;70(5):801-8	A novel CYP2A6*20 allele found in African-American population produces a truncated protein lacking enzymatic activity.		122720	9872	2	2005												
120742		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Nakajima, M.  et al. 2004	15225612				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			FEBS letters. 2004 Jul;569(3-Jan):75-81	Novel human CYP2A6 alleles confound gene deletion analysis		122720	9867	2	2004	This is the first report of a method that can distinguish between CYP2A6*4A, CYP2A6*4D, and CYP2A6*1F which could otherwise cause a mistyping as CYP2A6*4D.	Cohort 165 Caucasians 										
120743	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Fujieda, M.  et al. 2004	15308589				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		CDC GDPinfo	1548	Hs.439056			Carcinogenesis. 2004 Dec;25(12):2451-8	Evaluation of CYP2A6 genetic polymorphisms as determinants of smoking behavior and tobacco-related lung cancer risk in male Japanese smokers.		122720	9868	2	2004	These results presumably suggest that the CYP2A6 is one of the principal determinants affecting not only smoking behaviors but also susceptibility to tobacco-related lung cancer.	Case:1,094 lung cancer cases;Control:611:controls	smoking (tobacco)									
120744	Y	smoking behavior	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Vasconcelos, G. M.  et al. 2004	15534625				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			The pharmacogenomics journal. 2005 ;5(1):42-8	CYP2A6 genetic polymorphisms and correlation with smoking status in Brazilians.		122720	9869	2	2004	These data suggest that the CYP2A6(*)1B is associated with smoking dependence in white and intermediate, but not black Brazilians.	Cohort 412 healthy Brazilians, self-recognized as white (n=147), black (n=123) and intermediate (n=142), and classified as smokers (n=205, including 61 ex-smokers) and nonsmokers (n=207) 										
120739		lung cancer; smoking behavior; nicotine	CANCER	CAN		19	19q13.2	CYP2A6	46041283	46048180		Nakajima, M.  et al. 2002	12487152				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Drug metabolism reviews. 2002 Nov;34(4):865-77	Interindividual differences in nicotine metabolism and genetic polymorphisms of human CYP2A6		122720	9864	2	2002	Review article											
120741	Y	nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Yoshida, R.  et al. 2003	12844137			promoter	Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Clinical pharmacology and therapeutics. 2003 Jul;74(1):69-76	Effects of polymorphism in promoter region of human CYP2A6 gene (CYP2A6*9) on expression level of messenger ribonucleic acid and enzymatic activity in vivo and in vitro.		122720	9866	2	2003	Thus it is suggested that the mutation in the TATA box (CYP2A6*9 allele) caused the decreased in vivo enzymatic activity. With an in vitro study, it was shown that the expression levels of CYP2A6 messenger ribonucleic acid and coumarin 7-hydroxylase activity in human livers genotyped as CYP2A6*1/CYP2A6*9 and CYP2A6*9/CYP2A6*9 tended to be lower than those in human livers genotyped as CYP2A6*1/CYP2A6*1, although there was no significant difference because of the small number of samples. These in vitro data supported the in vivo data demonstrating that the CYP2A6*9 allele caused the decreased expression level and enzymatic activity of CYP2A6.	Cohort 92/209 Japanese (n=92) and Korean (n=209) subjects 										
120736		lung cancer; smoking behavior	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Ariyoshi, N.  et al. 2002	12223434				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4		Japan	CDC GDPinfo	1548	Hs.439056			Cancer epidemiology, biomarkers & prevention. 2002 Sep;11(9):890-4	Genetic polymorphism of CYP2A6 gene and tobacco-induced lung cancer risk in male smokers.		122720	9861	2	2002	These data suggest that male smokers possessing the *1A/*1A genotype have higher risk for tobacco-induced lung cancers.	Case:370 lung cancer cases;Control:380 control smokers										
120737		CYP2A6	METABOLIC	MET		19	19q13.2	CYP2A6	46041283	46048180		Oscarson, M.  et al. 2002	12325023				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Chinese		CDC GDPinfo	1548	Hs.439056			Human mutation. 2002 Oct;20(4):275-83	Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity		122720	9862	2	2002	The CYP2A6(*)12 allele was present at an allele frequency of 2.2% among Spaniards, but was absent in Chinese.	Cohort 97/92 unrelated Chinese individuals (n=97) and unrelated volunteers from the Zaragoza area in northern Spain Spain, China 										
120738	Y	nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Yoshida, R.  et al. 2002	12445030				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			British journal of clinical pharmacology. 2002 Nov;54(5):511-7	Genetic polymorphisms in human CYP2A6 gene causing impaired nicotine metabolism.		122720	9863	2	2002	 It was clarified that the impaired in vivo nicotine metabolism was caused by CYP2A6*7 and CYP2A6*10 alleles.	Cohort 92/209 Japanese (n=92) and Korean (n=209) individuals 										
120733		CYP2A6	METABOLIC	MET		19	19q13.2	CYP2A6	46041283	46048180		Paschke, T.  et al. 2001	11684323				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	African American		CDC GDPinfo	1548	Hs.439056			Toxicology. 2001 Nov;168(3):259-68	Comparison of cytochrome P450 2A6 polymorphism frequencies in Caucasians and African-Americans using a new one-step PCR-RFLP genotyping method.		122720	9858	2	2001	We conclude that  both alleles are considerably less frequent in populations than previously reported.	Cohort 450 305 African Americans and 145 Caucasians 										
120734	N	smoking behavior; nicotine amounts inhaled per day	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180		Zhang, X.  et al. 2001	11725533				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		CDC GDPinfo	1548	Hs.439056			Nihon Arukoru Yakubutsu Igakkai Zasshi. 2001 Oct;36(5):486-90	Lack of association between smoking and CYP2A6 gene polymorphisms in A Japanese population.		122720	9859	2	2001	These results suggest that either the deletion or non-deletion of the CYP2A6 gene shows no significant effect on smoking behavior for the Japanese population examined.	Control:141:non-smokers;Case:96:smokers:Japan										
120730	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Loriot, M. A.  et al. 2001	11207029				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	French	France	CDC GDPinfo	1548	Hs.439056			Pharmacogenetics. 2001 Feb;11(1):39-44	Genetic polymorphisms of cytochrome P450 2A6 in a case-control study on lung cancer in a French population		122720	9855	2	2001	In this Caucasian population, we found neither a relation between genetically impaired nicotine metabolism and cigarette consumption, nor any modification of lung cancer risk related to the presence of defective CYP2A6 alleles (odds ratio = 1.1, 95% confidence interval = 0.7-1.9).	Case:244 lung cancer patients;Control:250 unspecified controls	smoking (tobacco)									
120731	Y	enzyme activity	METABOLIC	MET		19	19q13.2	CYP2A6	46041283	46048180		Ariyoshi, N.  et al. 2001	11237731				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Biochemical and biophysical research communications. 2001 Mar;281(3):810-4	A novel single nucleotide polymorphism altering stability and activity of CYP2a6.		122720	9856	2	2001	These data suggest that iYdividuals homozygous for the T1412C variaYt allele or heterozygous for this aYd a defect allele such as the CYP2A6*4 may be poor metabolizer of YicotiYe, but Yot coumariY.	Cohort Japanese 										
120732		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Kwon, J. T.  et al. 2001	11434509				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Korean		CDC GDPinfo	1548	Hs.439056			Pharmacogenetics. 2001 Jun;11(4):317-23	Nicotine metabolism and CYP2A6 allele frequencies in Koreans.		122720	9857	2	2001	The ethnic difference in cotinine formation might be due to environmental and/or diet factors as well as genetic factors.	Cohort 209 Koreans Korea 										
120727	N	smoking	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180	n	Zhang X et al. 2001	11725533				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		KGB	1548	Hs.439056	smoking		Nihon Arukoru Yakubutsu Igakkai Zasshi. 2001 Oct;36(5):486-90	Lack of association between smoking and CYP2A6 gene polymorphisms in A Japanese population.		122720	1603	1	2001	These results suggest that either the deletion or non-deletion of the CYP2A6 gene shows no significant effect on smoking behavior for the Japanese population examined.	Control:141:non-smokers;Case:96:smokers:Japan										
120728	Y	smoking	OTHER	OTH	Pulmonary Emphysema	19	19q13.2	CYP2A6	46041283	46048180		Minematsu N 2003	12832682				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			KGB	1548	Hs.439056			Thorax. 2003 Jul;58(7):623-8	Association of CYP2A6 deletion polymorphism with smoking habit and development of pulmonary emphysema.		122720	1604	1	2003	 Subjects with the CYP2A6del allele tend not to be heavy habitual smokers but can be light habitual smokers. The CYP2A6del polymorphism may inhibit smokers from giving up smoking, but appears to function as a protective factor against the development of pulmonary emphysema independent of smoking habit.		smoking (tobacco)									
120729		lung cancer; smoking behavior	CANCER	CAN		19	19q13.2	CYP2A6	46041283	46048180		Oscarson, M.   2001	11159795				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Feb;29(2):91-5	Genetic polymorphisms in the cytochrome P450 2A6 (CYP2A6) gene: implications for interindividualdifferences in nicotine metabolism.		122720	9854	2	2001	Review article											
120724	Y	Addison's disease; Graves' disease	IMMUNE	IMM	Graves Disease|Addison Disease	12	12q13.1-q13.3	CYP27B1	56442383	56447243		Jennings, C. E.  et al. 2005	15956353			promoter	Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3		Great Britain	CDC GDPinfo	1594	Hs.524528			Journal of molecular endocrinology. 2005 Jun;34(3):859-63	A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population.		264700	16062	2	2005												
120725	Y	smoking	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180		Ando M et al. 2003	12749606				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese		KGB	1548	Hs.439056	smoking		Journal of epidemiology. 2003 May;13(3):176-81	Association of CYP2A6 gene deletion with cigarette smoking status in Japanese adults.		122720	1601	1	2003	 Despite the possible protection against active smoking behavior in subjects homozygous for the deletion allele, the CYP2A6 polymorphism has only a limited impact on public health because no protective effect was found in heterozygous subjects.	Cohort 240 Japanese adults, who visited Aichi Cancer Center as outpatients Japan										
120722	Y	diabetes, type 1; Addison's disease; Graves' disease; thyroiditis, chronic lymphocytic	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Addison Disease|Thyroiditis, Autoimmune	12	12q13.1-q13.3	CYP27B1	56442383	56447243		Lopez, E. R.  et al. 2004	15296474			promoter	Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3	German	Germany	CDC GDPinfo	1594	Hs.524528			European journal of endocrinology. 2004 Aug;151(2):193-7	A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans		264700	9845	2	2004	 The CYP27B1 promoter (-1260) C/A polymorphism appears to be associated with endocrine autoimmune diseases but the CYP27B1 intron 6 (+2838) C/T polymorphism appears to be associated only with Hashimoto's thyroiditis. These results imply a regulatory difference of the CYP27B1 hydroxylase to predispose to endocrine autoimmunity.	Case:124/139/334/252 patients with Addison's disease (n=124), Hashimoto's thyroiditis (n=139), Graves' disease (n=334), type 1 diabetes mellitus (n=252);Control:320 healthy controls										
120723	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q13.1-q13.3	CYP27B1	56442383	56447243		Hawkins, G. A.  et al. 2002	12386916				Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3			CDC GDPinfo	1594	Hs.524528			The Prostate. 2002 Nov;53(3):175-8	Sequence variants in the human 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27B1) gene are not associated with prostate cancer risk.		264700	16061	2	2002	 This study suggests that the CYP27B1 gene does not play a major role as a prostate cancer susceptibility gene.	Control:222:controls;Case:245 prostate cancer cases										
120718	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Xanthomatosis, Cerebrotendinous	2	2q33-qter	CYP27A1	219354948	219388259		Wakamatsu N et al. 1999	10406988				Cytochrome P450, family 27, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000784.2			KGB	1593	Hs.516700			Journal of neurology, neurosurgery, and psychiatry. 1999 Aug;67(2):195-8	Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.		606530	1716	1	1999	 CTX with parkinsonism is caused by mutations with a severe impact on enzyme function. The two mutations described here are likely to cause loss of function because they are chain terminating or affect an essential site in the protein.											
120720		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	12	12q13.1-q13.3	CYP27B1	56442383	56447243		Malecki MT et al. 2003	12746631				Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3	population	Poland	KGB	1594	Hs.524528			Diabetes & metabolism. 2003 Apr;29(2 Pt 1):119-24	Association study of the vitamin D: 1alpha-hydroxylase (CYP1alpha) gene and type 2 diabetes mellitus in a Polish population.		264700	1718	1	2003	 Vitamin D 1alpha-hydroxylase is not a major gene for T2DM in a Polish population. However, this gene may be associated with T2DM in subjects with obesity. Thus, to definitely determine the role of this gene in T2DM further studies are necessary in other populations using larger sample size.											
120715		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Torres, N.  et al. 2003	14502362				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Brazilian journal of medical and biological research. 2003 Oct;36(10):1311-8	Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.		201910	20973	2	2003	This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH.	Case:50 Brazilian patients with the classical (salt										
120716		neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele|Genetic Predisposition to Disease	10	10q23-q24	CYP26A1	94823221	94827631		Deak, K. L.  et al. 2005	16237707				Cytochrome P450, family 26, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000783.2			CDC GDPinfo	1592	Hs.150595			Birth defects research Part A, Clinical and molecular teratology. 2005 Nov;73(11):868-75	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.		602239	25923	2	2005	 These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.											
120717		neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele|Genetic Predisposition to Disease	2	2p13.2	CYP26B1	72209874	72228471		Deak, K. L.  et al. 2005	16237707				Cytochrome P450, family 26, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019885.2			CDC GDPinfo	56603	Hs.91546			Birth defects research Part A, Clinical and molecular teratology. 2005 Nov;73(11):868-75	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.		605207	26829	2	2005	 These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.											
120713		hyperandrogenism; premature pubarche	METABOLIC	MET	Hirsutism|Puberty, Precocious|Hyperandrogenism|Genetic Predisposition to Disease	6	6p21.3	CYP21A2	32114060	32117398		Witchel, S. F.  et al. 2001	11287026				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Fertility and sterility. 2001 Apr;75(4):724-30	Candidate gene analysis in premature pubarche and adolescent hyperandrogenism		201910	20971	2	2001	Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome.	Control:15 healthy control women;Case:29 adolescent girls with hyperandrogenism										
120714		cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD; 21-hydroxylase deficiency	OTHER	OTH	Cystic Fibrosis|Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Ezquieta, B.  et al. 2005	16238926				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Spanish		CDC GDPinfo	1589	Hs.278430			Med Clin (Barc). 2005 Oct;125(13):493-5	[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening.]		201910	20972	2	2005	 We have found that CF is less frequent and NC21OHD more frequent in the Spanish population than in other Caucasian populations.											
120711		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Cavarzere, P.  et al. 2005	15818055				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Italian	Italy	CDC GDPinfo	1589	Hs.278430			Hormone research. 2005 ;63(4):180-6	Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report threeyears into the program.		201910	16058	2	2005	 After 33 months of screening for CAH in North-Eastern Italy, we report an incidence of 1:21,380. In 5 out of 6 affected babies, the diagnosis was established only after a positive screening test, which prevented a severe salt-wasting crisis in these babies. The cut-off level related to gestational age led to a significant reduction in the number of false-positives among preterm babies.We therefore intend to continue with the screening program for CAH in North-Eastern Italy, keeping a gestational-age-related cut-off in the hope that our data may encourage a national screening program for CAH.											
120712		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Sido, A. G.  et al. 2005	16046588				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Romania	CDC GDPinfo	1589	Hs.278430			The Journal of clinical endocrinology and metaboli	21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.		201910	16059	2	2005	 The present study is the first countrywide report of mutational analysis in a Romanian patient population with 21-hydroxylase deficiency. Molecular diagnosis was performed in a small number of CAH patients proved not to suffer from 21-hydroxylase deficiency but from 11beta-hydroxylase deficiency, and a new mutation was identified.											
120709		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Bachega, T. A.  et al. 2004	15761541				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Arquivos brasileiros de endocrinologia e metabologia. 2004 Oct;48(5):697-704	[Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotypecorrelation]		201910	16056	2	2004	The good genotype-phenotype correlation in patients with 21-hydroxylase deficiency shows the usefulness of genotype to predict the clinical form for genetic counseling, prenatal diagnosis and to confirm neonatal screening diagnosis, except in cases with I2 splice mutation.	Cohort 205 patients with the three different clinical forms of 21-hydroxylase deficiency 										
120710		congentical adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Vakili, R.  et al. 2005	15775714				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Iran	CDC GDPinfo	1589	Hs.278430			Hormone research. 2005 ;63(3):119-24	Molecular Analysis of the CYP21 Gene and Prenatal Diagnosis in Families with 21-Hydroxylase Deficiency in Northeastern Iran		201910	16057	2	2005	 These molecular procedures proved to be sensitive and rapid for the detection of the most common mutations of the CYP21 gene and prenatal diagnosis. Increased 17-hydroxyprogesterone, found in neonatal CAH screening, can be confirmed by these mutation analyses.	Cohort 30 congentical adrenal hyperplasia patients 										
120707		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Nordenstrom, A.  et al. 2005	15627780				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		India|Great Britain	CDC GDPinfo	1589	Hs.278430			Hormone research. 2005 ;63(1):22-8	Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England:implications for neonatal screening.		201910	16054	2	2005	Our findings strongly support the need for implementation of a neonatal screening programme for CAH in the UK which may reduce the male infant mortality.	Cohort 73 congential adrenal hyperplasia children (44 female, 29 male; 54 white, 19 Asian) treated at the Royal Manchester Children's Hospital UK 										
120708	Y	polycystic ovary syndrome; adrenal androgen	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism|Genetic Predisposition to Disease	6	6p21.3	CYP21A2	32114060	32117398		Witchel, S. F.  et al. 2005	15705377				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Fertility and sterility. 2005 Feb;83(2):371-5	Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.		201910	16055	2	2005	The G972R variant of the IRS1 gene might represent a modifier locus among women who are heterozygous carriers of CYP21 mutations, potentially increasing their risk of developing AA excess in PCOS. Nonetheless, this IRS1 variant and CYP21 mutations seem to play a limited role in the development of PCOS in the population studied.	Case:114 consecutive patients of non-Hispanic white race diagnosed with polycystic ovary syndrome from a University reproductive endocrinology laboratory and outpatient clinic;Control:95 healthy controls										
120705		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Baumgartner-Parzer, S.  et al. 2004	15572419				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Austria|Yugoslavia	CDC GDPinfo	1589	Hs.278430			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):775-8	Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population.		201910	16052	2	2004	In conclusion, the observed CAH carrier frequency of 9.5% suggests a higher prevalence of CAH heterozygosity in a middle European population than hitherto estimated independent of the individuals Yugoslav or non-Yugoslav origin.	Cohort 100/100 migrants from the former Yugoslavia (n=100) and individuals of non-Yugolavian origin (n=100) Austria 										
120706		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Kosel, S.  et al. 2005	15608154				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Clinical chemistry. 2005 Feb;51(2):298-304	Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.		201910	16053	2	2005	 If samples with increased 17-OHP values were screened genetically, the number of retests would decrease by approximately 90%, but the overall sensitivity of CAH screening would remain the same. Adding a second-tier genetic step would require a modest increase in costs, but is counterbalanced by fewer recalls, less clinical follow-up, and a reduction in unnecessary worry for families.	Cohort 810,000 newborns Jan, 1999 - Dec, 2003 										
120703		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Zeng, X.  et al. 2004	15110320				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Molecular genetics and metabolism. 2004 May;82(1):38-47	Detection and assignment of CYP21 mutations using peptide mass signature genotyping.		201910	16050	2	2004	This assay has the potential to provide high-throughput, cost-effective analysis of the CYP21 gene to detect known mutations and identify novel variants in samples obtained from patients with CAH, individuals suspected to have CAH, and heterozygous carriers.	Cohort 150 DNA samples 										
120704		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Zhang, B.  et al. 2004	15493145				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Chinese		CDC GDPinfo	1589	Hs.278430			Yi chuan xue bao. 2004 Sep;31(9):950-5	[Molecular characterization of mutations and phenotype/genotype correlation in Chinese patients with 21-hydroxylase deficiency]		201910	16051	2	2004	In conclusion, the most common mutations in Chinese 21-OHD were l172N, i2g and Del. The genotype of Chinese 21-OHD has strong correlation with the phenotype.	Control:34 normal controls;Case:35 Chinese patients with 21-hydroxylase deficiency										
120701		late-onset congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Polycystic Ovary Syndrome|Adrenal Hyperplasia, Congenital|Hirsutism	6	6p21.3	CYP21A2	32114060	32117398		Yarman, S.  et al. 2004	15004406				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Turkish	Turkey	CDC GDPinfo	1589	Hs.278430			Endocrine journal. 2004 Feb;51(1):31-6	The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.		201910	16048	2	2004	As a result, LOCAH due to 21-OH deficiency is unexpectedly high in Turkish patients with hirsutism and PCO.	Cohort 61 women with hirsutism and polycystic ovary 										
120702		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398			15027205				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Russia	CDC GDPinfo	1589	Hs.278430			Genetika. 2004 Jan;40(1):97-101	[In Process Citation]		201910	16049	2	2004		Control:50 healthy donors;Case:96 patients with congenital adrenal hyperplasia northwestern Russia										
120699		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Kotaska, K.  et al. 2003	14514162				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Czech	Czech Republic	CDC GDPinfo	1589	Hs.278430			Central European journal of public health. 2003 Sep;11(3):124-8	Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.		201910	16046	2	2003	Significant differencies in selected regions were determined by ANOVA statistical analysis (One-sample t-test, confidence interval) at value of p < 0.05.	Case:87 unrelated Czech patients with different forms of steroid 21-hydroxylase deficiency										
120700		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Balsamo, A.  et al. 2003	14671153				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			The Journal of clinical endocrinology and metabolism. 2003 Dec;88(12):5680-8	CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.		201910	16047	2	2003	Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.	Cohort 55 patients affected by 21-hydroxylase deficiency 										
120697		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Stikkelbroeck, N. M.  et al. 2003	12915679				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	European	Netherlands	CDC GDPinfo	1589	Hs.278430			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3852-9	CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: sixnovel mutations and a specific cluster of four mutations		201910	16043	2	2003	The frequency of CYP21 mutations and the genotype-phenotype correlation in 21-hydroxylase deficient patients in The Netherlands show in general high concordance with previous reports from other Western European countries. However, a cluster of four pseudogene-derived point mutations on exons 7 and 8 on a single allele, observed in almost 2% of the unrelated	Cohort 198 patients with 21-hydroxylase deficiency The Netherlands 										
120698		21-hydroxylase deficiency	METABOLIC	MET		6	6p21.3	CYP21A2	32114060	32117398		Kotaska, K.  et al. 2003	12966197				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Czech		CDC GDPinfo	1589	Hs.278430			Medical principles and practice. 2003 Oct-Dec;12(4):243-7	Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.		201910	16044	2	2003	 A high prevalence of P30L mutations, mostly associated with nonclassical forms of congenital adrenal hyperplasia, was found in Czech patients with classic simple virilizing forms of steroid 21-hydroxylase deficiency.	Cohort 76 Czech patients diagnosed with steroid 21-hydroxylase deficiency 										
120695		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital|Metabolism, Inborn Errors	6	6p21.3	CYP21A2	32114060	32117398		Pinto, G.  et al. 2003	12788866				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2624-33	Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency:relevance of genotype for management.		201910	16041	2	2003	Genotyping, combined with neonatal screening and optimal medical and surgical treatment, can help in the management of CAH.	Cohort 68 patients with congenital adrenal hyperplasia 										
120696		21-hydroxylase deficiency	METABOLIC	MET	Metabolism, Inborn Errors	6	6p21.3	CYP21A2	32114060	32117398		Grigorescu-Sido, A.  et al. 2003	12876419				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Hormone research. 2003 ;60(2):84-90	Growth analysis in patients with 21-hydroxylase deficiency influence of glucocorticoid dosage, age at diagnosis, phenotype and genotype on growth and height outcome.		201910	16042	2	2003	 Hydrocortisone substitution in 21-hydroxylase-deficient patients should be kept at the lowest efficient level, if possible <20 during the first year and <15 mg/m2/day until age 5 and during puberty. Normal growth and not complete androgen suppression should be aimed for.	Cohort 37 patients with 21-hydroxylase deficiency (17 had completed growth, 20 still growing). 										
120693		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Krone, N.  et al. 2002	12028996				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Clinical chemistry. 2002 Jun;48(6 Pt 1):818-25	Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia.		201910	16039	2	2002	 This novel mutation screening strategy rapidly detects 90-95% of all mutations associated with CAH and appears applicable as a tool for confirmation of increased 17-hydroxyprogesterone found in neonatal CAH screening.	Case:40 congenital adrenal hyperplasia patients										
120694	N	precocious pubarche	DEVELOPMENTAL	DEV	Hyperinsulinism|Puberty, Precocious|Hyperandrogenism	6	6p21.3	CYP21A2	32114060	32117398		Potau, N.  et al. 2002	12370110				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Spanish	Spain	CDC GDPinfo	1589	Hs.278430			European journal of endocrinology. 2002 Oct;147(4):485-8	Molecular defects of the CYP21 gene in Spanish girls with isolated precocious pubarche		201910	16040	2	2002	 The incidence of molecular defects in the CYP21 gene in the present study was comparable in the PP and control groups. We found no relationship between the presence of carrier status and endocrine-metabolic abnormalities. Prospective studies of larger cohorts of PP girls are needed to ascertain the long-term clinical relevance of CYP21 heterozygosity.	Control:35:controls;Case:53 unrelated girls with a history of PP (14 prepubertal, 8 pubertal and 31 postmenarcheal)										
120691		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital|Acne Vulgaris|Hirsutism|Oligomenorrhea	6	6p21.3	CYP21A2	32114060	32117398		Speiser, P. W.  et al. 2000	11073721				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Molecular genetics and metabolism. 2000 Nov;71(3):527-34	A multicenter study of women with nonclassical congenital adrenal hyperplasia: relationshipbetween genotype and phenotype.		201910	16037	2	2000	These data have important implications for genetic counseling. In summary, we describe differences in clinical, hormonal, and genetic characteristics among a multiethnic group of females with NCAH.	Cohort women carrying a severe and a mild CYP21 mutation (Group 1, N = 26) and women homozygous for mild mutations (Group 2, N = 8). 										
120692		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital|Infant, Premature, Diseases	6	6p21.3	CYP21A2	32114060	32117398		Nordenstrom, A.  et al. 2001	11581476				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDPinfo	1589	Hs.278430			Pediatrics. 2001 Oct;108(4):E68	Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels andCYP21 genotypes in preterm infants.		201910	16038	2	2001	 On the basis of these results, we omitted the extraction step and changed the cutoff levels in the Swedish screening program for preterm infants. We chose to use a cutoff level of 400 nmol/L plasma in infants who were born before week 35 and 150 nmol/L for infants who were born in weeks 35 and 36. For detecting more patients, the cutoff level would have to be much lower, which would result in a number of false-positive tests that we consider to be unacceptably high. It is clear that neonatal screening cannot detect all infants with CAH. Some milder forms of the disease, just like in the past, will have to be diagnosed on the basis of clinical signs and symptoms.	Cohort 12/6200 preterm infants with CAH diagnosed 										
120688	Y	congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Lobato MN et al. 1999	10364682				cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Spanish	Spain	KGB	1589	Hs.278430			Human heredity. 1999 Jun;49(3):169-75	Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.		201910	1711	1	1999												
120690		nonclassic steroid 21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A1	32090516	32111160		Helmberg A et al. 1992	1406709				cytochrome P450, family 21, subfamily a, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			KGB	1589	Hs.278430			Molecular endocrinology (Baltimore, Md). 1992 Aug;6(8):1318-22	R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.		201910	1713	1	1992												
120686		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Stikkelbroeck NM 2003	12915679				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Netherlands	KGB	1589	Hs.278430			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3852-9	CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.		201910	1709	1	2003	The frequency of CYP21 mutations and the genotype-phenotype correlation in 21-hydroxylase deficient patients in The Netherlands show in general high concordance with previous reports from other Western European countries. However, a cluster of four pseudogene-derived point mutations on exons 7 and 8 on a single allele, observed in almost 2% of the unrelated	Cohort 198 patients with 21-hydroxylase deficiency The Netherlands										
120687		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21B	32114120	32117398		Ghanem N et al. 1990	1979956				cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			KGB	1589	Hs.278430			Human genetics. 1990 Dec;86(2):117-25	Defective deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.			1710	1	1990												
120683		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Haiman, C. A.  et al. 2003	12602902				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		601771	27399	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
120685		21-hydroxylase deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Kotaska K 2003	14514162				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Czech Republic	KGB	1589	Hs.278430			Central European journal of public health. 2003 Sep;11(3):124-8	Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.		201910	1708	1	2003	Significant differencies in selected regions were determined by ANOVA statistical analysis (One-sample t-test, confidence interval) at value of p < 0.05.	Case:87 unrelated Czech patients with different forms of steroid 21-hydroxylase deficiency										
120680		breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Le Marchand, L.  et al. 2005	16103451				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		601771	26826	2	2003												
120681		estrogen levels	NORMALVARIATION	NV	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Lurie, G.  et al. 2005	15941966				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1521-7	Association of genetic polymorphisms with serum estrogens measured multiple times during a 2-year period in premenopausal women.		601771	26827	2	2005												
120682		mammographic density	OTHER	OTH	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Maskarinec, G.  et al. 2004	15382051				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):683-8	An investigation of mammographic density and gene variants in healthy women.		601771	26828	2	2004	Our data suggest lower mammographic density for women carrying the COMT and CYP1A2 variant alleles than for women carrying the common alleles, though this is the opposite of what is commonly hypothesized from the enzyme function.	Cohort 328 healthy women of different ethnicities 										
120677		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Huber, A.  et al. 2005	16202920				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		601771	26823	2	2005												
120678		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Huber, A.  et al. 2005	16260521				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		601771	26824	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
120679		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2p21	CYP1B1	38148249	38156796		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		601771	26825	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
120674		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Liu, Y.  et al. 2005	15654505				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Japanese	Japan	CDC GDPinfo	1545	Hs.154654			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		601771	26819	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
120675		testosterone; estradiol; androstenedione; DHEA; progesterone	METABOLIC	MET		2	2p21	CYP1B1	38148249	38156796		Garcia-Closas, M.  et al. 2002	12385014				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):172-8	Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.		601771	26820	2	2002	Our data suggest that circulating levels of progesterone might be related to parity and alcohol consumption, however the biological plausibility of the observed associations is unclear. We found little support for an influence of the evaluated genetic polymorphisms in the steroid synthesis and metabolism pathway on serum hormone levels, except for a possible effect of the CYP1B1 L432V and S453N polymorphisms on serum estradiol levels. Copyright 2002 Wiley-Liss, Inc.	Cohort 218 pre-menopausal women from Kaiser Permanente Health Plan Portland, Oregon 	alcohol									
120676	Y	menopause	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Hefler, L. A.  et al. 2005	15774541				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian		CDC GDPinfo	1545	Hs.154654			Human reproduction (Oxford, England). 2005 May;20(5):1422-7	Estrogen-metabolizing gene polymorphisms and age at natural menopause in Caucasian women		601771	26822	2	2005	 We present the most comprehensive data on estrogen-metabolizing gene polymorphisms and timing of natural menopause to date. The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women.	Cohort 1,360 Caucasian women with natural menopause 										
120671		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		England	CDC GDPinfo	1545	Hs.154654			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		601771	24235	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
120672		sex hormones	METABOLIC	MET	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Tworoger, S. S.  et al. 2004	14744739				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):94-101	Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women.		601771	25921	2	2004	This study provides further evidence that genetic variation may appreciably alter sex hormone concentrations in postmenopausal women not taking hormone therapy.	Cohort 171 postmenopausal women 										
120673		hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Dunning, A. M.  et al. 2004	15199113				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		England	CDC GDPinfo	1545	Hs.154654			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		601771	25922	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
120668		puberty onset	DEVELOPMENTAL	DEV	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Kadlubar, F. F.  et al. 2003	12692107				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian	New York	CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2003 Apr;12(4):327-31	The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer.		601771	24232	2	2003	CYP1B1, CYP3A4, and CYP3A5 rapid variants were more common in African-American than in Hispanic or Caucasian girls.	Cohort 137 healthy nine-year-old-girls from two pediatric clinics 										
120669	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Saijo, Y.  et al. 2004	15299091				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Japan	CDC GDPinfo	1545	Hs.154654			Molecular human reproduction. 2004 Oct;10(10):729-33	Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not involved in the risk of recurrent pregnancy loss		601771	24233	2	2004	The present study suggests that the Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not major genetic regulators in RPL.	Case:113 Japanese women with recurrent pregnancy loss;Control:203 ethnically matched women experiencing at least one live birth and no spontaneous abortions										
120670		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	2	2p21	CYP1B1	38148249	38156796		Doherty, J. A.  et al. 2005	15734958				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):357-66	Genetic factors in catechol estrogen metabolism in relation to the risk of endometrial cancer.		601771	24234	2	2005	Some of our findings are consistent with the hypothesis that increased estrogen 2-hydroxylation is associated with decreased endometrial cancer risk, but replication of these results is required before any firm conclusions can be reached.	Case:371 population-based endometrial cancer cases;Control:420:controls										
120665		ovarian cancer	CANCER	CAN	Carcinoma|Ovarian Neoplasms	2	2p21	CYP1B1	38148249	38156796		Sellers, T. A.  et al. 2005	16284375				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2536-43	Estrogen bioactivation, genetic polymorphisms, and ovarian cancer.		601771	24229	2	2005												
120666		hot flashes	OTHER	OTH	Genetic Predisposition to Disease|Hot Flashes	2	2p21	CYP1B1	38148249	38156796			16319265				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Obstetrics and gynecology. 2005 Dec;106(6):1372-81	Cytochrome Gene Polymorphisms, Serum Estrogens, and Hot Flushes in Midlife Women		601771	24230	2	2005	 These data suggest that a CYP1B1 polymorphism may be associated with severe and persistent hot flushes, independent of E2 and estrone levels.		estrogen									
120667	N	menarche	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Lai, J.  et al. 2001	11749050				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Molecular genetics and metabolism. 2001 Dec;74(4):449-57	CYP gene polymorphisms and early menarche.		601771	24231	2	2001	The polymorphic variants of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes are unlikely to influence age of menarche.	Cohort 583 nulliparous women between ages 17 and 35, of various ethnic backgrounds 										
120662	Y	sex hormones	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Ko, Y.  et al. 2001	11389067				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		601771	20969	2	2001	The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.	Case smoking cases;Control smoking controls	smoking (tobacco)									
120663		testicular cancer	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms	2	2p21	CYP1B1	38148249	38156796		Starr, J. R.  et al. 2005	16172230				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2183-90	Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.		601771	20970	2	2005												
120664		mamographic density	OTHER	OTH	Breast Neoplasms|Atherosclerosis	2	2p21	CYP1B1	38148249	38156796		Lord, S. J.  et al. 2005	15987428				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Breast cancer research. 2005 ;7(3):R336-44	Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.		601771	24228	2	2005	 Although based on small numbers, these findings suggest that the magnitude of the increase in mammographic density in women using combined estrogen and progestin therapy may be greater in those with genetically determined lower activity of enzymes that metabolize estrogen and progesterone.											
120659		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Han, W.  et al. 2004	14734460				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Korea	CDC GDPinfo	1545	Hs.154654			Clinical cancer research. 2004 Jan;10(1 Pt 1):124-30	Associations between Breast Cancer Susceptibility Gene Polymorphisms and Clinicopathological Features		601771	20966	2	2004	 These results indicate that polymorphisms of some selected breast cancer susceptibility genes are associated with the clinicopathological phenotypes of breast cancer.	Cohort 664 Korean primary breast cancer patients 										
120660	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Wenzlaff AS et al. 2005	16051642				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	nonsmokers 18-84 years of age	United States	CDC GDPinfo	1545	Hs.154654			Carcinogenesis. 2005 Dec;26(12):2207-12	CYP1A1 and CYP1B1 polymorphisms and risk of lung cancer among never smokers: a population-basedstudy.	rs 1056836	601771	20967	2	2005			smoke (tobacco), passive	NQO1	C(609)T	GSTP1	Ile105Val	GSTM1	null			
120661		2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics	METABOLIC	MET		2	2p21	CYP1B1	38148249	38156796		Landi, M. T.  et al. 2005	15596250				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Italian		CDC GDPinfo	1545	Hs.154654			Toxicology. 2005 Feb;207(2):191-202	CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy.		601771	20968	2	2005	Genetic variation in cytochrome P450 induction may identify subjects with variable responsiveness to TCDD and potentially increased risk of disease.	Cohort 121 subjects from the Seveso population accidentally exposed to 2,3,7,8-Tetrachlorodibenzo-p-dioxin Italy 1976 										
120656		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Listgarten, J.  et al. 2004	15102677				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Clinical cancer research. 2004 Apr;10(8):2725-37	Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms		601771	20963	2	2004	We have shown that multiple SNP sites from different genes over distant parts of the genome are better at identifying breast cancer patients than any one SNP alone. As high-throughput technology for SNPs improves and as more SNPs are identified, it is likely that much higher predictive accuracy will be achieved and a useful clinical tool developed.	Control matched normal controls;Case:174 breast cancer patients										
120657	N	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Lee, K. M.  et al. 2003	12618873				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Korean		CDC GDPinfo	1545	Hs.154654			British journal of cancer. 2003 Mar;88(5):675-8	Genetic polymorphisms of cytochrome P450 19 and 1B1, alcohol use, and breast cancer risk in Korean women.		601771	20964	2	2003	The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here.	Case Korean breast cancer patients;Control:controls										
120658	N	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Thyagarajan, B.  et al. 2004	15072827				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer letters. 2004 Apr;207(2):183-9	CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study		601771	20965	2	2004	Our data shows no association between breast cancer and the Leu432Val polymorphism of the CYP1B1 gene or the tetranucleotide repeats of the CYP19 gene.	Case:178 incident breast cancer cases in the Atherosclerosis Risk in Communities study;Control:356 controls in the Atherosclerosis Risk in Communities:study										
120653		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Kocabas, N. A.  et al. 2005	15386537				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Turkey	CDC GDPinfo	1545	Hs.154654			Cell biochemistry and function. 2005 Jan-Feb;23(1):73-6	Genetic polymorphism of manganese superoxide dismutase (MnSOD) and breast cancer susceptibility.		601771	20960	2	2005												
120654	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Saintot, M.  et al. 2003	14520706				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1, catechol-o-methyltransferase and tobacco exposure in breast cancer risk		601771	20961	2	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
120655		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Cicek, M. S.  et al. 2005	16172228				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2173-7	Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.		601771	20962	2	2005												
120650	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Disease Susceptibility	2	2p21	CYP1B1	38148249	38156796		McGrath, M.  et al. 2003	14656940				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Carcinogenesis. 2004 Apr;25(4):559-65	Cytochrome P450 1B1 and catechol-O-methyltransferase polymorphisms and endometrial cancer susceptibility.		601771	20957	2	2003	Our data suggest, that the CYP1B1 Ser allele may decrease endometrial cancer risk by altering the production of catechol estrogens. However, further studies are warranted to elucidate the role of CYP1B1 in endometrial cancer.	Case:222 cases of endometrial cancer nested within the Nurses' Healthy Study;Control:666:controls	body mass hormone replacement therapy smoking (tobacco)									
120651	Y	breast cancer; endometrial cancer	CANCER	CAN	Breast Neoplasms|Endometrial Neoplasms	2	2p21	CYP1B1	38148249	38156796			15285606				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Molekuliarnaia biologiia. 2004 May-Jun;38(3):386-93	[Polymorphisms of CYP1B1 and COMT in breast and endometrial cancer]		601771	20958	2	2004	Risk of endometrial, but not breast, cancer was significantly higher in carriers of CYP1B1 genotype Val432/Val. This was explained by stronger estrogen dependence and, consequently, higher estrogen reactivity of the endometrium as compared with the mammary gland.	Control:152 healthy women;Case:210/138 breast cancer (n=210) and endometrial cancer:(n=138) patients										
120647		longevity	AGING	AGE	Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Pesch, B.  et al. 2004	15177664				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Germany	CDC GDPinfo	1545	Hs.154654			Toxicology letters. 2004 Jun;151(1):283-90	Polymorphic metabolic susceptibility genes and longevity: a study in octogonarians.		601771	17048	2	2004	Polymorphic metabolic susceptibility genes could become relevant for processes of aging when toxic defense mechanisms decline.	Case:205:octogenarians;Control:294 non-cancer persons aged less than 80 years										
120648		glaucoma, early-onset	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Vincent, A. L.  et al. 2002	11774072				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Canada	CDC GDPinfo	1545	Hs.154654			American journal of human genetics. 2002 Feb;70(2):448-60	Digenic inheritance of early-onset glaucoma:CYP1B1, a potential modifier gene.		601771	18915	2	2002	This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway.	Cohort 60 indiviuals with juvenile or early-onset glaucoma greater Toronto area, Canada 										
120649	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Kocabas, N. A.  et al. 2002	12415427				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Turkish		CDC GDPinfo	1545	Hs.154654			Archives of toxicology. 2002 Nov;76(11):643-9	Cytochrome P450 CYP1B1 and catechol O-methyltransferase (COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population.		601771	20956	2	2002	We conclude that  the CYP1B1* 3 allele appears to be a factor for susceptibility to breast cancer in Turkish women especially those with a BMI greater than 24 kg/m(2).	Control:103 healthy unrelated women;Case:84 breast cancer patients:Turkey										
120644		glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Kaur, K.  et al. 2005	15733270				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Clinical genetics. 2005 Apr;67(4):335-40	Myocilin gene implicated in primary congenital glaucoma.		601771	16032	2	2005	These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease.	Cohort 72 primary congenital glaucoma patients 										
120645		catecholestrogen formation; catecholestrogen metabolism	UNKNOWN	UNK		2	2p21	CYP1B1	38148249	38156796		Aklillu, E.  et al. 2005	15958554				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer research. 2005 Jun;65(12):5105-11	Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene.		601771	16033	2	2005												
120646	Y	glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Chakrabarti S et al. 2006	16384942			coding sequence	Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian	Africa|Americas|Asia|Europe	CDC GDPinfo	1545	Hs.154654			Investigative ophthalmology & visual science. 2006 Jan;47(1):43-7	Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are Strongly Structured by Geographic and Haplotype Backgrounds		601771	16034	2	2006	 The strong association of specific haplotypes with some predominant CYP1B1 mutations underlying PCG and the observed geographical clustering, probably due to founder effects, may be useful for predictive testing.											
120641	Y	glaucoma, primary congenital	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Reddy, A. B.  et al. 2004	15475877				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian	India	CDC GDPinfo	1545	Hs.154654			Molecular vision [electronic resource]. 2004 Sep;10:696-702	Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.		601771	16028	2	2004	 This study provides a mutation spectrum of CYP1B1 causing primary congenital glaucoma in Indian populations that has implications in devising molecular diagnostics for rapid screening.	Cohort 64 Indian primary congenital glaucoma patients 										
120642		glaucoma, early-onset	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Koraszewska-Matuszewska, B.  et al. 2004	15636228				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Polish	Poland	CDC GDPinfo	1545	Hs.154654			Klinika oczna. 2004 ;106(3 Suppl):436-9	[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma]		601771	16030	2	2004	The haplotypes in homozygous state (C/C/A, C/C/G, and G/T/A) were present in 52.6% cases. Since it is suggested that the presence of these haplotypes may be linked to mutations in exon II of the CYP1B1 gene, we plan to analyze that exon in the future.	Cohort 72 unrelated Polish patients with primary congenital glaucoma, juvenile glaucoma and juvenile glaucoma suspects 										
120643		glaucoma, primary open-angle; glaucoma, primary congenital	VISION	VIS	Glaucoma, Open-Angle	2	2p21	CYP1B1	38148249	38156796		Chakrabarti, S.  et al. 2005	15723004				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian	India	CDC GDPinfo	1545	Hs.154654			Molecular vision [electronic resource]. 2005 Feb;11:111-3	Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.		601771	16031	2	2005	 The myocilin mutation, Gln48His, represents an allelic condition involving a spectrum of glaucoma phenotypes in Indian populations, and could be a potential risk factor towards disease predisposition among patients of Indian origin. The study also highlights the role of MYOC as a candidate in different glaucoma subtypes that needs to be investigated further.											
120638		breast cancer	CANCER	CAN	Breast Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Li, D.  et al. 2002	12183407				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer research. 2002 Aug;62(16):4566-70	Genetic and environmental determinants on tissue response to in vitro carcinogen exposure and risk of breast cancer.		601771	16025	2	2002	These observations suggest that genetic susceptibility to carcinogen exposure may play an important role in breast carcinogenesis.	Control:60 noncancer controls;Case:76 breast cancer cases										
120639		glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Ohtake, Y.  et al. 2003	12598442				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Japanese		CDC GDPinfo	1545	Hs.154654			The British journal of ophthalmology. 2003 Mar;87(3):302-4	Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma.		601771	16026	2	2003	 In clinically diagnosed cases of PCG, a subgroup shows a CYP1B1 gene mutation. Age at onset was earlier in PCG patients with CYP1B1 mutations than in patients without mutations. Women were more prevalent among patients with mutations than those without mutations.	Cohort 66 Japanese pateints with primary congenital glaucoma 										
120640		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	2	2p21	CYP1B1	38148249	38156796		Melki, R.  et al. 2004	15342693				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	French	France	CDC GDPinfo	1545	Hs.154654			Journal of medical genetics. 2004 Sep;41(9):647-51	CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.		601771	16027	2	2004	 CYP1B1 mutations might pose a significant risk for early-onset POAG and might also modify glaucoma phenotype in patients who do not carry a MYOC mutation.	Case:236 unrelated French Caucasian primary open-angle glaucoma patients;Control:47 population-matched controls										
120635	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Liang, G.  et al. 2005	15896461				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Chinese	China	CDC GDPinfo	1545	Hs.154654			Cancer letters. 2005 Jun;223(2):265-74	Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population.		601771	10983	2	2005	The sequencing results of CYP1B1, GSTP1 and hOGG1 matched the ones of diASA-AMP technique. CYP1B1 432Val polymorphism may modulate the individual susceptibility of lung cancer among smokers in Chinese population. GSTP1 Ile105Val and hOGG1 Ser326Cys polymorphisms were not found to be risk factors of lung cancer in this study. The method diASA-AMP is rapid, specific and cost-effective. It can be used for rapid detection of the genes related with tumor susceptibility of population.	Control:controls;Case:227 patients with lung cancer	smoking (tobacco)									
120636		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	2	2p21	CYP1B1	38148249	38156796		Sorensen, M.  et al. 2005	15808404				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer letters. 2005 Apr;221(2):185-90	Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.		601771	12663	2	2005	The NAT2 fast acetylator genotype seemed to be protective against lung cancer in light smokers (20 cigarettes/day).	Case:265 lung cancer cases identified from a population-based case-cohort study of 54,220;Control:272 individuals from a sub-cohort used for comparison	smoking (tobacco)									
120637		menopause	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Aklillu, E.  et al. 2002	11854439				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Molecular pharmacology. 2002 Mar;61(3):586-94	Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population.		601771	16024	2	2002	The results emphasize the necessity of a complete haplotype analysis of enzyme variants for evaluation of functional consequences in vivo and for analyses of genetic polymorphisms in relation to, for example, cancer incidence.	Cohort an Ethiopian population Ethiopia 										
120632	Y	menarche	REPRODUCTION	REP	Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Kocabas, N. A.  et al. 2005	15777990				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Turkish	Turkey	CDC GDPinfo	1545	Hs.154654			Archives of medical research. 2005 Jan-Feb;36(1):19-23	Polymorphisms related to estrogen and xenobiotic metabolism in healthy Turkish women.		601771	9841	2	2005	 To my knowledge, this is the first genetic study on the association of these genes with susceptibility in Turkish women. Although the small sample size of each combination of estrogen metabolizing, results suggest that the CYP1B1 *3 and COMT-L alleles influence age at menarche in healthy Turkish women.	Cohort healthy Turkish women 	body mass									
120633	Y	glaucoma, primary open-angle	VISION	VIS	Optic Nerve Diseases|Vision Disorders|Glaucoma, Open-Angle	2	2p21	CYP1B1	38148249	38156796			16319821				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	French		CDC GDPinfo	1545	Hs.154654			Molecular vision [electronic resource]. 2005 Nov;11:1012-7	Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma		601771	9844	2	2005	 The common N453S coding variant of CYP1B1 is potentially a factor of severity in POAG patients.											
120634		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	2	2p21	CYP1B1	38148249	38156796		Hung, R. J.  et al. 2004	15122594				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		601771	10966	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)	GSTM1	null	GSTT1	null	NAT2		Y	"age of onset, smoking and occupational exposure to polycyclic aromatic hydrocarbons (PAHs) and aromatic amines"	bladder cancer
120629	Y	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Saintot, M.  et al. 2004	15075793				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		France	CDC GDPinfo	1545	Hs.154654			European journal of cancer prevention. 2004 Feb;13(1):83-6	Interaction between genetic polymorphism of cytochrome P450-1B1 and environmental pollutants in breast cancer risk		601771	9835	2	2004	Our results suggested that the Val CYP1B1 allele increases the susceptibility to breast cancer in women exposed to waste incinerator or agricultural pollutants.	Case breast cancer patients living near to a waste incinerator for more than 10 years										
120630	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2p21	CYP1B1	38148249	38156796		Cecchin, E.  et al. 2004	15255550				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian		CDC GDPinfo	1545	Hs.154654			The International journal of biological markers. 2004 Apr-Jun;19(2):160-3	Lack of association of CYP1 B1*3 polymorphism and ovarian cancer in a Caucasian population.		601771	9837	2	2004	These results do not support a favoring role of CYP1B1*3 in ovarian cancer development in our population.	Case:223 cases of ovarian cancer;Control:280 healthy female blood donors										
120631	N	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	2	2p21	CYP1B1	38148249	38156796		Rylander-Rudqvist, T.  et al. 2004	15342454				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Sweden	CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2004 Sep;13(9):1515-20	Cytochrome P450 1B1 gene polymorphisms and postmenopausal endometrial cancer risk.		601771	9839	2	2004	We found no evidence for an overall association between CYP1B1 genotype and endometrial cancer risk, nor was there any clear indication of gene-environment interaction.	Control postmenopausal Swedish control women;Case postmenopausal Swedish women with endometrial:cancer:Sweden	body mass family history hormone replacement therapy oral contraceptive smoking (tobacco)									
120626	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Chang, B. L.  et al. 2003	14562027				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			British journal of cancer. 2003 Oct;89(8):1524-9	Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer.		601771	9830	2	2003	These findings suggest that genetic polymorphisms in CYP1B1 may modify the risk for CaP.	Case:159/245 hereditary prostate cancer probands (n=159) and sporadic prostate cancer cases (n=245);Control:222 unaffected men										
120627		pregnancy loss, recurrent	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Sasaki, M.  et al. 2003	14961553				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	German		CDC GDPinfo	1545	Hs.154654			Human mutation. 2003 Jun;21(6):652	Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations		601771	9833	2	2003	This report clearly demonstrates rare variants that correspond to hyper-activity of CYP1B1 protein are significantly 1ess frequent in the Japanese population.	Cohort 112/200/200 German (n=112), Japanese (n=200) and Americans (n=200) 										
120628		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	2	2p21	CYP1B1	38148249	38156796		Sasaki, M.  et al. 2004	15041720				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Clinical cancer research. 2004 Mar;10(6):2015-9	Polymorphisms of the CYP1B1 Gene as Risk Factors for Human Renal Cell Cancer		601771	9834	2	2004	 The present study demonstrates for the first time that the polymorphisms at codons 119 and 432 may be risk factors for renal cancer, especially in the male population.	Control:200 healthy controls;Case:211 cases of human renal cell cancer										
120623	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Tanaka, Y.  et al. 2002	12200121				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Biochemical and biophysical research communications. 2002 Aug;296(4):820-6	Polymorphisms of the CYP1B1 gene have higher risk for prostate cancer.		601771	9826	2	2002	This is the first report that demonstrates the polymorphism at codon 119 of CYP1B1 to be associated with prostatic carcinogenesis. These results are important in understanding the role of CYP1B1 polymorphisms in the pathogenesis of prostate cancer.	Case:117 prostate cancer samples:Japan;Control:200 healthy normal subjects										
120624	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Rylander-Rudqvist, T.  et al. 2003	12844487				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Carcinogenesis. 2003 Sep;24(9):1533-9	Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk.		601771	9828	2	2003	We explored the effect of CYP1B1 genotype on breast cancer risk in subgroups defined by body mass index, family history, smoking and Catechol-O-methyl transferase genotype, but found no convincing evidence for interaction. In summary, our results strongly indicate that the studied CYP1B1 gene polymorphisms do not influence breast cancer risk overall but may modify the risk after long-term menopausal hormone use.	Control:1,498:controls;Case:1,521 breast cancer cases	family history hormone replacement therapy smoking (tobacco)									
120625	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Sasaki, M.  et al. 2003	12873984				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDPinfo	1545	Hs.154654			Cancer research. 2003 Jul;63(14):3913-8	CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions.		601771	9829	2	2003	This is the first report that demonstrates that the rare polymorphisms at codons 119 and 432 of CYP1B1 gene have higher risk for endometrial cancer, and positive correlations with ERalpha and ERbeta expressions in endometrial cancer.	Case:113 Japanese endometrial cancer patients;Control:202 healthy controls										
120620	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Tang, Y. M.  et al. 2000	11221602	Leu432Val			Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		China	CDC GDPinfo	1545	Hs.154654			Pharmacogenetics. 2000 Dec;10(9):761-6	Human CYP1B1 Leu432Val gene polymorphism: ethnicdistribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls		601771	9823	2	2000	These preliminary data indicate that genetic polymorphisms in CYP1B1 might play an important role in human prostate carcinogenesis.	Case:50 men with prostate cancer;Control:50 unspecified controls										
120621	Y	catecholestrogen formation; catecholestrogen metabolism	UNKNOWN	UNK	Carcinoma|Ovarian Neoplasms	2	2p21	CYP1B1	38148249	38156796		Goodman, M. T.  et al. 2001	11303589				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Hawaii	CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):209-16	Case-control study of ovarian cancer and polymorphisms in genes involved in catecholestrogen formation and metabolism.		601771	9824	2	2001	These findings suggest that the CYP1B1-Val allele and perhaps other genetic polymorphisms in combination with environmental or hormonal exposures are susceptibility factors for ovarian cancer.	Case:129 epithelial ovarian cancer cases:Hawaii:1993-1999;Control:144:controls	smoking (tobacco)									
120622	Y	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		De Vivo, I.  et al. 2002	12010864				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		United States	CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2002 May;11(5):489-92	Association of CYP1B1 polymorphisms and breast cancer risk		601771	9825	2	2002	The results presented do not support a strong association between m1 and m2 and the risk of breast cancer.	Case:453 cases from a nested case control design within the Nurses' Health Study cohort;Control:456 controls from a nested case control design within the Nurses' Health Study cohort										
120617		primary congenital glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Reddy AB 2003	14507861				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		India	KGB	1545	Hs.154654			Investigative ophthalmology & visual science. 2003 Oct;44(10):4200-3	Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.		601771	1597	1	2003	The results suggest extensive allelic heterogeneity in the Indian patients with PCG, with the predominant allele being R368H among the 146 Indian patients tested. It appears possible to use this approach for carrier detection in pedigrees with a positive family history and in population screening. The approach also offers a method for rapid screening of potential carriers and affected individuals.											
120618	Y	glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796	0.0001	Panicker SG 2004	15037581				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian	India	KGB	1545	Hs.154654			Investigative ophthalmology & visual science. 2004 Apr;45(4):1149-56	Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.		601771	1598	1	2004	 This is the first study to attempt to devise a severity index for grading various PCG phenotypes and to use genotype as an indicator to predict the prognoses of the disorder. This index may help guide therapy and counseling of the afflicted family regarding the progression of the disorder. All patients with severe phenotypes showed poor prognoses (r = 0.976; P < 0.0001). The data derived from this study could be used as an added clinical tool in disease management. Integrated management of PCG that makes use of a genetic approach could yield better results than medical, surgical, and rehabilitation interventions alone.											
120619		metabolism of benzo[a]pyrene (B[a]P)	PHARMACOGENOMIC	PHARM	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Mammen JS 2003	12807732				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654			Carcinogenesis. 2003 Jul;24(7):1247-55	Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.		601771	1599	1	2003												
120614	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Chang BL 2003	14562027				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654			British journal of cancer. 2003 Oct;89(8):1524-9	Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer.		601771	1594	1	2003	These findings suggest that genetic polymorphisms in CYP1B1 may modify the risk for CaP.	Case:159/245 hereditary prostate cancer probands (n=159) and sporadic prostate cancer cases (n=245);Control:222 unaffected men										
120615	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Rylander-Rudqvist T 2003	12844487				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654			Carcinogenesis. 2003 Sep;24(9):1533-9	Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk.		601771	1595	1	2003	We explored the effect of CYP1B1 genotype on breast cancer risk in subgroups defined by body mass index, family history, smoking and Catechol-O-methyl transferase genotype, but found no convincing evidence for interaction. In summary, our results strongly indicate that the studied CYP1B1 gene polymorphisms do not influence breast cancer risk overall but may modify the risk after long-term menopausal hormone use.	Control:1,498:controls;Case:1,521 breast cancer cases	family history hormone replacement therapy smoking (tobacco)									
120616	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Rylander-Rudqvist T 2003	12844487				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654			Carcinogenesis. 2003 Sep;24(9):1533-9	Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk.		601771	1596	1	2003	We explored the effect of CYP1B1 genotype on breast cancer risk in subgroups defined by body mass index, family history, smoking and Catechol-O-methyl transferase genotype, but found no convincing evidence for interaction. In summary, our results strongly indicate that the studied CYP1B1 gene polymorphisms do not influence breast cancer risk overall but may modify the risk after long-term menopausal hormone use.	Control:1,498:controls;Case:1,521 breast cancer cases	family history hormone replacement therapy smoking (tobacco)									
120611	Y	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Bailey LR et al. 1998	9823305				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654			Cancer research. 1998 Nov;58(22):5038-41	Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer.		601771	1591	1	1998												
120612	Y	breast and lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Breast Neoplasms|Lung Neoplasms	2	2p21	CYP1B1	38148249	38156796		Watanabe J et al. 2000	10739169				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Japan	KGB	1545	Hs.154654			Pharmacogenetics. 2000 Feb;10(1):25-33	Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer.		601771	1592	1	2000												
120613	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Saintot M 2003	14520706	Val432Leu CYP1B1		coding sequence	Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			KGB	1545	Hs.154654	smoking		International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1~~~ catechol-o-methyltransferase and tobacco exposure in breast cancer risk.		601771	1593	1	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
120608		estrogen	UNKNOWN	UNK	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Lurie, G.  et al. 2005	15941966				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1521-7	Association of genetic polymorphisms with serum estrogens measured multiple times during a 2-year period in premenopausal women.		124060	25919	2	2005												
120609		mammographic density	OTHER	OTH	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Maskarinec, G.  et al. 2004	15382051				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):683-8	An investigation of mammographic density and gene variants in healthy women.		124060	25920	2	2004	Our data suggest lower mammographic density for women carrying the COMT and CYP1A2 variant alleles than for women carrying the common alleles, though this is the opposite of what is commonly hypothesized from the enzyme function.	Cohort 328 healthy women of different ethnicities 										
120610	Y	glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Belmouden A et al. 2002	12372064				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Morocco	KGB	1545	Hs.154654			Clinical genetics. 2002 Oct;62(4):334-9	A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.		601771	1590	1	2002												
120605		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q24	CYP1A2	72828236	72835994		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		124060	25916	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
120606		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Esfandiary, H.  et al. 2005	15774926				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		124060	25917	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
120607		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Le Marchand, L.  et al. 2005	16103451				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		124060	25918	2	2003												
120602		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q24	CYP1A2	72828236	72835994		Le Marchand, L.   2002	12484238				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			IARC scientific publications. 2002 ;156:481-5	Meat intake, metabolic genes and colorectal cancer		124060	20954	2	2002	Thus, our data provide additional suppurt for the hypotheses that nitrosamines are carcinogenic to the rectum in humans and that red meat and particularly processed meats are significant sources of exposure for these compounds.	Case:727 Japanese, Caucasian or Native Hiwaiian colorectal cancer cases;Control:727 controls matched on sex, age and ethnicity	aspirin diet meat physical activity smoking (tobacco)									
120603		prostate cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Duzhak, T. G.  et al. 2001	11507974				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Siberia	CDC GDPinfo	1544	Hs.1361			International journal of circumpolar health. 2001 Apr;60(2):228-34	Genetic polymorphisms of CYP1A1, GSTM1 and P53 genes in a unique Siberian population of Tundra Nentsi and its pharmacogenetic importance		124060	20955	2	2001	Thus the prevalence of two polymorphic genes CYP1A1 and GSTM1 responsible for the biotransformation of polycyclic aromatic hydrocarbons was too high in the non-healthy group.	Cohort a unique Siberian population of Tundra Nentsi 										
120604		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Almeida, S.  et al. 2005	16130011				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			The pharmacogenomics journal. 2005 ;5(6):346-51	Estrogen-metabolizing gene polymorphisms and lipid levels in women with different hormonal status.		124060	24227	2	2005			hormone replacement therapy									
120599		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		England	CDC GDPinfo	1544	Hs.1361			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		124060	20951	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
120601		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Murata, M.  et al. 2001	11275366				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese	Japan	CDC GDPinfo	1544	Hs.1361			Cancer letters. 2001 Apr;165(2):171-7	Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, CYP2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population		124060	20953	2	2001	This study suggests that the CYP1A1 polymorphism and its combination with GSTM1 may be associated with PCa susceptibility in the Japanese population.	Case not specified in abstract;Control not specified in abstract										
120596		puberty onset	UNKNOWN	UNK	Breast Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Kadlubar, F. F.  et al. 2003	12692107				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Caucasian	New York	CDC GDPinfo	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2003 Apr;12(4):327-31	The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer.		124060	20948	2	2003	CYP1B1, CYP3A4, and CYP3A5 rapid variants were more common in African-American than in Hispanic or Caucasian girls.	Cohort 137 healthy nine-year-old-girls from two pediatric clinics 										
120597	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Saijo, Y.  et al. 2004	15299091				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Japan	CDC GDPinfo	1544	Hs.1361			Molecular human reproduction. 2004 Oct;10(10):729-33	Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not involved in the risk of recurrent pregnancy loss		124060	20949	2	2004	The present study suggests that the Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not major genetic regulators in RPL.	Case:113 Japanese women with recurrent pregnancy loss;Control:203 ethnically matched women experiencing at least one live birth and no spontaneous abortions										
120598		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q24	CYP1A2	72828236	72835994		Doherty, J. A.  et al. 2005	15734958				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):357-66	Genetic factors in catechol estrogen metabolism in relation to the risk of endometrial cancer.		124060	20950	2	2005	Some of our findings are consistent with the hypothesis that increased estrogen 2-hydroxylation is associated with decreased endometrial cancer risk, but replication of these results is required before any firm conclusions can be reached.	Case:371 population-based endometrial cancer cases;Control:420:controls										
120593		methadone toxicity	PHARMACOGENOMIC	PHARM	Poisoning	15	15q24	CYP1A2	72828236	72835994		Wong, S. H.  et al. 2003	14640293				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Journal of forensic sciences. 2003 Nov;48(6):1406-15	Pharmacogenomics as an aspect of molecular autopsy for forensic pathology/toxicology: does genotypingCYP 2D6 serve as an adjunct for certifying methadone toxicity?		124060	16245	2	2003	Thus, CYP 2D6 mutations may not yet be directly associated with methadone toxicity. However, pharmacogenomics, complementing other case findings, served as an adjunct in interpreting methadone toxicity of poor and intermediate metabolizers.	Case:21 methadone cases from the Milwaukee County Medical Examiner's Office:1998-2000;Control:23:controls										
120594		testicular cancer	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms	15	15q24	CYP1A2	72828236	72835994		Starr, J. R.  et al. 2005	16172230				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2183-90	Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.		124060	16263	2	2005												
120595	N	menarche	REPRODUCTION	REP		15	15q24	CYP1A2	72828236	72835994		Lai, J.  et al. 2001	11749050				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Molecular genetics and metabolism. 2001 Dec;74(4):449-57	CYP gene polymorphisms and early menarche.		124060	20947	2	2001	The polymorphic variants of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes are unlikely to influence age of menarche.	Cohort 583 nulliparous women between ages 17 and 35, of various ethnic backgrounds 										
120590		CYP1A2 enzymatic activity	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Castorena-Torres, F.  et al. 2005	15763632				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Toxicology letters. 2005 Apr;156(3):331-9	CYP1A2 phenotype and genotype in a population from the Carboniferous Region of Coahuila, Mexico.		124060	16020	2	2005	These results suggest that intron I polymorphism and PAH exposure are relevant factors that modulate CYP1A2 enzymatic activity.	Cohort 46 male volunteers northern Coahuila, Mexico 	polycyclic aromatic hydrocarbons									
120591	Y	lung cancer	CANCER	CAN	Lung Neoplasms	15	15q24	CYP1A2	72828236	72835994		Chiou, H. L.  et al. 2005	15890241				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer letters. 2005 Jun;223(1):93-101	NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.		124060	16022	2	2005	These results suggested never-smoking females with NAT2 fast acetylator were more prone to lung cancer and reflected the possibility that exposure to heterocyclic amines may contribute to the female lung cancer development in Taiwan.	Case:162 never-smoking lung cancer patients:Taiwan;Control:208 never-smoking non-cancer controls										
120592		CYP1A2 activity	METABOLIC	MET	Asthma|Pulmonary Disease, Chronic Obstructive	15	15q24	CYP1A2	72828236	72835994			16385402				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese		CDC GDPinfo	1544	Hs.1361			European journal of clinical pharmacology. 2006 Jan;62(1):23-8	Phenotype-genotype analysis of CYP1A2 in Japanese patients receiving oral theophylline therapy		124060	16023	2	2005	 These results suggest that the CYP1A2*1C and CYP1A2*1F genotypes are not crucial factors for the variability of CYP1A2 activity and that the CYP1A2*1K haplotype is either nil or only shows a very low frequency in Japanese.		theophylline									
120588	Y	2-Amino-1-methyl-6-phenylimidazo[4,5-b]pyridine	METABOLIC	MET	Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Moonen, H. J.  et al. 2004	15110095				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Food and chemical toxicology. 2004 Jun;42(6):869-78	CYP1A2 and NAT2 genotype/phenotype relations and urinary excretion of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in a human dietary intervention study.		124060	16016	2	2004	Although the found correlations are driven primarily by a small number of subjects possessing the homozygous variant constellation, the strong influence of this genotype indicates that the CYP1A2*1F polymorphism could play an important role in human cancer risk susceptibility.	Cohort 71 human volunteers after consumption of either a high (7.4 ng/g) or low (1.7 ng/g) dose of PhIP 										
120589	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Tiwari, A. K.  et al. 2004	15505641				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			The pharmacogenomics journal. 2005 ;5(1):60-9	Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects: I. Association ofCYP1A2 gene polymorphism		124060	16018	2	2004	We observed increased severity of TD among TD-Y smokers, who were carriers of CYP1A2(*)1C (G>A) variant allele and had received only typical antipsychotic drugs (F(1,8)=9.203, P=0.016). No significant association of CYP1A2(*)1F with TD was observed irrespective of the class of drug they received or their smoking status. However, we found a significant association of CYP1A2(*)1F with schizophrenia (chi(2)=6.572, df=2, P=0.037).	Cohort 335 schizophrenia sufferers north India 	antipsychotic drug smoking (tobacco)									
120584		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	15	15q24	CYP1A2	72828236	72835994		Gago-Dominguez, M.  et al. 2003	12663508				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Carcinogenesis. 2003 Mar;24(3):483-9	Permanent hair dyes and bladder cancer: riskmodification by cytochrome P4501A2 and N-acetyltransferases 1 and 2.		124060	16012	2	2003	Frequency- and duration-related dose-response relationships confined to CYP1A2 'slow' individuals were all positive and statistically significant. No such associations were noted among CYP1A2 'rapid' individuals. Among lifelong non-smoking women, individuals exhibiting the non-NAT1*10 genotype showed a statistically significant increase in bladder cancer risk	Case:159 bladder cancer cases of the Los Angeles Bladder Cancer Study;Control:164:controls	hair dye									
120585	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Tobacco Use Disorder|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Chong, S. A.  et al. 2003	12790158				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Journal of psychiatry & neuroscience. 2003 May;28(3):185-9	Smoking and tardive dyskinesia: lack of involvementof the CYP1A2 gene.		124060	16013	2	2003	 Consistent with other studies, the prevalence of TD was significantly higher among smokers than non-smokers; however, we did not find an association between the C --> A genetic polymorphism of CYP1A2 and TD.	Case:104:smokers;Control:187:non-smokers	smoking (tobacco)									
120581		lung cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urologic Neoplasms	15	15q24	CYP1A2	72828236	72835994		Tsukino, H.  et al. 2003	14648207				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Japan	CDC GDPinfo	1544	Hs.1361			Journal of cancer research and clinical oncology. 2004 Feb;130(2):99-106	Cytochrome P450 (CYP) 1A2, sulfotransferase (SULT) 1A1, and N-acetyltransferase (NAT) 2 polymorphisms and susceptibility to urothelial cancer.		124060	14103	2	2003	 Our results suggest that SULT1A1 *1/*1 and NAT2 slow acetylator genotypes might modulate the effect of carcinogenic arylamines contained in tobacco smoke, and that the modulation of NAT2 intermediate and slow acetylator genotype has a tendency to present a higher risk for highly differentiated tumors among heavy-smokers.	Case:306 Japanese patients with urothelial transitional cell:carcinoma;Control:306 healthy controls	smoking (tobacco)									
120582		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Ozdemir, V.  et al. 2001	11179771				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Journal of biochemical and biophysical methods. 2001 Jan;47(2-Jan):151-7	Pharmacogenetic assessment of antipsychotic-induced movement disorders: contribution of the dopamine D3receptor and cytochrome P450 1A2 genes.		124060	16008	2	2001	Review article											
120583	N	CYP1A2 activity	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Nordmark, A.  et al. 2002	12445029				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			British journal of clinical pharmacology. 2002 Nov;54(5):504-10	The effect of the CYP1A2 *1F mutation on CYP1A2 inducibility in pregnant women.		124060	16010	2	2002	 The effect of the CYP1A2*1F mutation on CYP1A2 activity in smoking pregnant women could not be confirmed.	Cohort 904 pregnant women who served as control subjects in a case-control study of early fetal loss 	smoking (tobacco)									
120578		caffeine metabolic ratio; smoking mutagenicity	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Pavanello, S.  et al. 2005	16188490				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Mutation research. 2005 Nov;587(2-Jan):59-66	Influence of the genetic polymorphism in the 5'-noncoding region of the CYP1A2 gene on CYP1A2 phenotype and urinary mutagenicity in smokers.		124060	9821	2	2005			smoking (tobacco)									
120579		pancreatic cancer	CANCER	CAN		15	15q24	CYP1A2	72828236	72835994		Skarke, C.  et al. 2005	16307269				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			European journal of clinical pharmacology. 2005 Dec;61(12):887-92	Rapid genotyping for relevant CYP1A2 alleles by pyrosequencing.		124060	9822	2	2005	 Pyrosequencing facilitates rapid and reliable detection of those CYP1A2 alleles that, based on current knowledge, can be considered predictive for the CYP1A2 phenotype.											
120575		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	15	15q24	CYP1A2	72828236	72835994		Mochizuki, J.  et al. 2005	16048566				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Journal of gastroenterology and hepatology. 2005 Aug;20(8):1191-7	Genetic polymorphisms of cytochrome P450 in patients with hepatitis C virus-associated hepatocellular carcinoma.		124060	9818	2	2005	 There is no statistically significant difference in genetic mutant alleles between the two groups, except for the genotype of CYP2A6*4A homozygous. The frequency of this genotype in the HCC patients (0.144) is significantly higher than that in healthy Japanese (0.034; P < 0.05; odds ratio 3.36). The clinical significance related to HCC is unknown. Further evaluation of CYP2A6*4A (deletion type) in HCV-related HCC patients is required.											
120576		caffeine metabolic ratio	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Chen, X.  et al. 2005	16153396				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Chinese		CDC GDPinfo	1544	Hs.1361			Clinical pharmacology and therapeutics. 2005 Sep;78(3):249-59	The G-113A polymorphism in CYP1A2 affects the caffeine metabolic ratio in a Chinese population.		124060	9819	2	2005	 The G-3113A polymorphism is associated with decreased CYP1A2 activity, haplotype pairs 10 and 13 are responsible for high CYP1A2 activity, and haplotype pairs 5, 8, 9, 12, and 15 are responsible for low CYP1A2 activity in Chinese subjects.											
120577	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	15	15q24	CYP1A2	72828236	72835994		Moonen, H.  et al. 2005	16157215				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Cancer letters. 2005 Nov;229(1):25-31	The CYP1A2-164A-->C polymorphism (CYP1A2*1F) is associated with the risk for colorectal adenomas in humans.		124060	9820	2	2005												
120572		cholangiocarcinoma	CANCER	CAN	Cholangiocarcinoma|Liver Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Prawan, A.  et al. 2005	15901993				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			European journal of cancer prevention. 2005 Jun;14(3):245-50	Association between genetic polymorphisms of CYP1A2, arylamine N-acetyltransferase 1 and 2 and susceptibility to cholangiocarcinoma.		124060	9814	2	2005	This study suggests that the NAT2 polymorphism may be a modifier of individual risk to CCA.	Case:216 cholangiocarcinoma cases;Control:233 control subjects										
120573		clozapine pharmacokinetics	PHARMACOGENOMIC	PHARM	Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Kootstra-Ros, J. E.  et al. 2005	15949157				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Annals of clinical biochemistry. 2005 May;42(Pt 3):216-9	The cytochrome P450 CYP1A2 genetic polymorphisms *1F and *1D do not affect clozapine clearance in a group of schizophrenic patients.		124060	9816	2	2005	 Although this study was performed using samples from a limited number of patients, routine genotyping of CYP1A2 *1F, *1C or *1D polymorphisms for their effect on metabolic capacity is, at least in Caucasians, not yet indicated.											
120574		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Li, D.  et al. 2005	15987714				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Carcinogenesis. 2006 Jan;27(1):103-11	Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer1.		124060	9817	2	2005			smoking (tobacco)									
120569	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesias|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Matsumoto, C.  et al. 2004	15564895				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese	Japan	CDC GDPinfo	1544	Hs.1361			Psychiatric genetics. 2004 Dec;14(4):209-13	Genetic association analysis of functional polymorphisms in the cytochrome P450 1A2 (CYP1A2) gene with tardive dyskinesia in Japanese patients with schizophrenia.		124060	9811	2	2004	 We did not find significant associations between the 734C/A and -2964G/A polymorphisms of CYP1A2 gene and TD in Japanese patients with schizophrenia. Our results suggest that these CYP1A2 gene polymorphisms may not contribute to TD susceptibility.	Cohort 199 Japanese patients with schizophrenia 	antipsychotic drug									
120570		urinary mutagenicity	UNKNOWN	UNK	Epilepsy|Arrhythmias, Cardiac|Arrhythmias, Cardiac	15	15q24	CYP1A2	72828236	72835994		Soyama, A.  et al. 2005	15770072				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese	Japan	CDC GDPinfo	1544	Hs.1361			Drug metabolism and pharmacokinetics. 2005 Feb;20(1):24-33	Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population.		124060	9812	2	2005	Our findings provide fundamental and useful information for genotyping CYP1A2 in the Japanese, and probably Asian populations.	Cohort 250 Japanese subjects 										
120571		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Sata, F.  et al. 2005	15849225				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Molecular human reproduction. 2005 May;11(5):357-60	Caffeine intake, CYP1A2 polymorphism and the risk of recurrent pregnancy loss.		124060	9813	2	2005	It was demonstrated for the first time that an increase in caffeine intake deteriorates the fecundity among susceptible women.	Control:147:controls;Case:58 cases with two or more recurrent pregnancy loss	caffeine									
120566		porphyria	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Gardlo, K.  et al. 2003	14714565				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Experimental dermatology. 2003 Dec;12(6):843-8	Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda		124060	9807	2	2003	We found an increased incidence of the m4 polymorphism in the familial type of PCT (odds ratio 5.5, P-value 0.01), whereas the m1 and m2 mutations, might be provoked by a higher susceptibility to porphyrogens via the cytochrome p4501A1 m4 polymorphism.	Control healthy controls;Case:65 Caucasian patients with porphyria cutanea tarda										
120567		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Dandara, C.  et al. 2004	15387446				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Clinical chemistry and laboratory medicine. 2004 ;42(8):939-41	Frequency of -163 C>A and 63 C>G single nucleotide polymorphism of cytochrome P450 1A2 in two African populations.		124060	9809	2	2004	We report here a high frequency of -163 C>A base change and an absence of the 63 C>G change in the two African populations.	Cohort 143/71 Zimbabwe (n=143) and Tanzania (n=71) healthy subjects 										
120568	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Cornelis, M. C.  et al. 2004	15466009				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Costa Rica	CDC GDPinfo	1544	Hs.1361			Journal of medical genetics. 2004 Oct;41(10):758-62	Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction		124060	9810	2	2004	 The low inducibility genotype for CYP1A2 was associated with an increased risk of MI. This effect was independent of smoking status and suggests that a substrate of CYP1A2 that is detoxified rather than activated may play a role in CHD.	Case:873 subjects with a first acute non-fatal myocardial:infarction Costa Rica;Control:932 population based controls, matched for age, sex, and area of residence										
120563		porphyria	HEMATOLOGICAL	HEM		15	15q24	CYP1A2	72828236	72835994		Todesco, L.  et al. 2003	12851801	-3858G-->A and -164C-->A			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Caucasian		CDC GDPinfo	1544	Hs.1361			European journal of clinical pharmacology. 2003 Aug;59(4):343-6	Determination of -3858G-->A and -164C-->A genetic polymorphisms of CYP1A2 in blood and saliva by rapid allelic discrimination: large difference inthe prevalence of the -3858G-->A mutation between Caucasians and Asians.		124060	9804	2	2003	 For the -164C-->A mutation, we found an allelic frequency of 68% in the Caucasian population, comparable with data published for Asians and Caucasians. For the -3858G-->A mutation, the allele frequency was only 2% in Caucasians, a much lower value than the approximately 25% reported in Asians (P<0.001). The presented allelic discrimination allows fast and accurate detection of these two mutations. Genotype calls were 100% identical for DNA from saliva and blood. Saliva is easily accessible and represents an excellent alternative to the traditionally used venous blood for genotyping.	Cohort 17/100 saliva (n=17) and blood samples (n=100) from Caucasians 										
120564		endometrial cancer	CANCER	CAN		15	15q24	CYP1A2	72828236	72835994		Aklillu, E.  et al. 2003	12920202				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Molecular pharmacology. 2003 Sep;64(3):659-69	Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression:characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1.		124060	9805	2	2003	The results indicate a novel polymorphism in intron 1 of importance for Ets-dependent CYP1A2 expression in vivo and inducibility of the enzyme, which might be of critical importance for determination of interindividual differences in drug metabolism and sensitivity to carcinogens activated by CYP1A2.	Cohort 100/73 Ethiopians living in Ethiopia (n = 100) or in Sweden (n = 73) 										
120561		schizophrenia	PSYCH	PSY		15	15q24	CYP1A2	72828236	72835994		Hamdy, S. I.  et al. 2003	12630986				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese		CDC GDPinfo	1544	Hs.1361			British journal of clinical pharmacology. 2003 Mar;55(3):321-4	Genotyping of four genetic polymorphisms in the CYP1A2 gene in the Egyptian population.		124060	9802	2	2003	 The present study is the first to describe the frequencies of four known allelic variants of CYP1A2 among the Egyptian population. CYP1A2*1C and *1E occurred at frequencies significantly lower than that in Japanese, while similar frequencies were observed for CYP1A2*1D and *1F. The CYP1A2*1F frequency appeared to be identical to that of Caucasians. This does not exclude the possibility of the presence of new mutations relatively specific to the Egyptian population that have not been identified.	Cohort 212 unrelated Egyptian subjects 										
120562		asthma	IMMUNE	IMM	Asthma	15	15q24	CYP1A2	72828236	72835994		Obase, Y.  et al. 2003	12732846				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Clinical pharmacology and therapeutics. 2003 May;73(5):468-74	Polymorphisms in the CYP1A2 gene and theophylline metabolism in patients with asthma		124060	9803	2	2003	 Given its potential side effects, theophylline may need to be used with care in patients with the A allele at site -2964(G/A) in the CYP1A2 gene, because theophylline metabolism levels are lower in such patients, particularly in young asthmatic individuals.	Control:159 healthy Japanese volunteers;Case:75 Japanese patients with asthma										
120558		CYP1A2 activity	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Han, X. M.  et al. 2002	12445035				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			British journal of clinical pharmacology. 2002 Nov;54(5):540-3	Inducibility of CYP1A2 by omeprazole in vivo related to the genetic polymorphism of CYP1A2.		124060	9799	2	2002	 The CYP1A2*1C and CYP1A2*1F genetic polymorphisms influenced the induction of CYP1A2 activity in vivo by omeprazole.	Cohort 12 extensive metabolizers 	omeprazole									
120559		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q24	CYP1A2	72828236	72835994		Sachse, C.  et al. 2003	12534642				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			British journal of clinical pharmacology. 2003 Jan;55(1):68-76	Polymorphisms in the cytochrome P450 CYP1A2 gene (CYP1A2) in colorectal cancer patients and controls: allele frequencies, linkagedisequilibrium and influence on caffeine metabolism		124060	9800	2	2003	 (i) CYP1A2 polymorphisms are in linkage disequilibrium. Therefore, only -164A-->C (CYP1A2*1F) and -2464T-->delT (CYP1A2*1D) need to be analysed in the routine assessment of CYP1A2 genotype; (ii) in vivo CYP1A2 activity is lower in colorectal cancer patients than in controls, and (iii) CYP1A2 genotype had no effect on phenotype (based on the caffeine metabolite ratio). However, this remains to be confirmed in a larger study.	Case:49 colorectal cancer cases;Control:65:controls	smoking (tobacco)									
120560		schizophrenia	OTHER	OTH		15	15q24	CYP1A2	72828236	72835994		van der Weide, J.  et al. 2003	12618594				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Pharmacogenetics. 2003 Mar;13(3):169-72	The effect of smoking and cytochrome P450 CYP1A2 genetic polymorphism on clozapine clearance and dose requirement		124060	9801	2	2003	Dosage adjustment based on smoking behaviour would be of value in order to lower the incidence of non-therapeutic serum drug levels and, consequently, intoxication or inadequate antipsychotic response.	Cohort 80 smoking and nonsmoking schizophrenic patients on long-term clozapine therapy 	smoking (tobacco)									
120555		clozapine, response to	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Ozdemir, V.  et al. 2001	11763009			intron	Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Journal of clinical psychopharmacology. 2001 Dec;21(6):603-7	Treatment-resistance to clozapine in association with ultrarapid CYP1A2 activity and the C-->A polymorphism in intron 1 of the CYP1A2 gene: effectof grapefruit juice and low-dose fluvoxamine.		124060	9796	2	2001	not included in abstract	Cohort schizophrenic patients 										
120556	N	schizophrenia	PSYCH	PSY	Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Shimoda, K.  et al. 2002	11817502			intron	Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese		CDC GDPinfo	1544	Hs.1361			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Feb;26(2):261-5	Lack of impact of CYP1A2 genetic polymorphism (C/A polymorphism at position 734 in intron 1 and G/A polymorphism at position -2964 in the 5'-flanking region of CYP1A2) on the plasma concentration of haloperidol in smoking male Japanese with schizophrenia.		124060	9797	2	2002	The present study suggests that the genotyping of CYP1A2 cannot predict the steady state plasma levels of HAL in male smoking schizophrenics.	Cohort 40 male smokers with schizophrenia 	haloperidol									
120557	Y	urinary mutagenicity	UNKNOWN	UNK		15	15q24	CYP1A2	72828236	72835994		Pavanello, S.  et al. 2002	12067576				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Food and chemical toxicology. 2002 Aug;40(8):1139-44	Role of metabolic polymorphisms NAT2 and CYP1A2 on urinary mutagenicity after a pan-fried hamburger meal		124060	9798	2	2002	In conclusion, this study indicates that CYP1A2 and NAT2 activities influence the presence of urinary mutagens after a meal of pan-fried hamburger (rich in HHAs) and consequently their potential genotoxic risk.	Cohort 50 subjects tested after a meal of pan-fried hamburger 	meat consumption									
120552		caffeine metabolite ratio	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Han, X. M.  et al. 2001	11470995	G-2964A and C734A			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Pharmacogenetics. 2001 Jul;11(5):429-35	Plasma caffeine metabolite ratio (17X/137X) in vivo associated with G-2964A and C734A polymorphisms of human CYP1A2		124060	9792	2	2001	Since Qidong is a special region with particularly high incidence of hepatocellular carcinoma in China, the association of phenotypes with genotypes of CYP1A2 in the Qidong population might result from some inducible environmental factors such as those of cigarettes in smokers.	Cohort 163 healthy volunteers Qidong, China 	smoking (tobacco)									
120553	N	tardive dyskinesia	OTHER	OTH	Dyskinesia, Drug-Induced|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Schulze, T. G.  et al. 2001	11496364				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			American journal of medical genetics. 2001 Aug;105(6):498-501	Lack of association between a functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene and tardive dyskinesia in schizophrenia.		124060	9793	2	2001	our results do not support the hypothesis that the C-->A polymorphism in the CYP1A2 gene is involved in the etiology of TD in the German population.	Cohort 119 patients with schizophrenia (82 smokers, 37 individuals with unknown smoking status) Germany Cohort 85 patients with schizophrenia (44 smokers, 41 individuals with unknown smoking status) US 										
120554		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Han, X. M.  et al. 2000	11501059	G-2964A and C734A			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Chinese		CDC GDPinfo	1544	Hs.1361			Acta pharmacologica Sinica. 2000 Nov;21(11):1031-4	G-2964A and C734A genetic polymorphisms of CYP1A2 in Chinese population.		124060	9794	2	2000	 The distribution of the G-2964A and C734A genetic polymorphisms did not show significant difference between Chinese and Japanese populations. The incidence of C734A in Chinese was also similar to that in Caucasian population.	Cohort individuals from Qidong and Changsha populations China 										
120549		porphyria cutanea tarda	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Christiansen, L.  et al. 2000	11153915				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Human genetics. 2000 Dec;107(6):612-4	Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda.		124060	9788	2	2000	The results demonstrate that the frequency of the highly inducible A/A genotype is increased in both familial and sporadic PCT. This suggests that inheritance of this genotype is a susceptibility factor in development of PCT.	Cohort Danish patients with porphyria curanea tarda 										
120550		schizophrenia	PSYCH	PSY		15	15q24	CYP1A2	72828236	72835994		Aitchison, K. J.  et al. 2000	11186132				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Taiwanese		CDC GDPinfo	1544	Hs.1361			Pharmacogenetics. 2000 Nov;10(8):695-704	Identification of novel polymorphisms in the 5' flanking region of CYP1A2, characterization of interethnic variability, and investigation of their functional significance		124060	9789	2	2000	The frequency of the T-3591G substitution was found to be significantly higher (P < 0.0001) in Taiwanese (allele frequency 0.128, n = 125) compared to Caucasians (0.017, n = 87) or African Americans (0.024, n = 104).	Cohort Taiwanese, Caucasians and African Americans 										
120546	N	Smoking	OTHER	OTH		15	15q24	CYP1A2	72828236	72835994	n	Van Der Weide J 2003	12618594				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	patients on long-term clozapine therapy		KEW	1544	Hs.1361	clozapine serum concentrations		Pharmacogenetics. 2003 Mar;13(3):169-72	The effect of smoking and cytochrome P450 CYP1A2 genetic polymorphism on clozapine clearance and dose requirement		124060	1587	1	2003	Dosage adjustment based on smoking behaviour would be of value in order to lower the incidence of non-therapeutic serum drug levels and, consequently, intoxication or inadequate antipsychotic response.	Cohort 80 smoking and nonsmoking schizophrenic patients on long-term clozapine therapy	smoking (tobacco)									
120547		schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Basile VS et al. 2000	10889552				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			KGB	1544	Hs.1361			Molecular psychiatry. 2000 Jul;5(4):410-7	A functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene: association with tardive dyskinesia in schizophrenia.		124060	1588	1	2000												
120548	Y	Plasma caffeine metabolite ratio	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Han XM et al. 2001	11470995				cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			KGB	1544	Hs.1361			Pharmacogenetics. 2001 Jul;11(5):429-35	Plasma caffeine metabolite ratio (17X/137X) in vivo associated with G-2964A and C734A polymorphisms of human CYP1A2.		124060	1589	1	2001			smoking (tobacco)									
120543		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Goode, E. L.  et al. 2002	12036913				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		108330	28137	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
120544	N	Tardive Dyskinesia in Schizophrenia	OTHER	OTH	Dyskinesia, Drug-Induced|Schizophrenia	15	15q24	CYP1A2	72828236	72835994	n	Schulze TG 2001	11496364	C--> A polymorphism			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	?		KGB	1544	Hs.1361			American journal of medical genetics. 2001 Aug;105(6):498-501	Lack of association between a functional polymorphism of the cytochrome P450 1A2 (CYP1A2) gene and tardive dyskinesia in schizophrenia.		124060	1585	1	2001	our results do not support the hypothesis that the C-->A polymorphism in the CYP1A2 gene is involved in the etiology of TD in the German population.	Cohort 119 patients with schizophrenia (82 smokers, 37 individuals with unknown smoking status) Germany Cohort 85 patients with schizophrenia (44 smokers, 41 individuals with unknown smoking status) US										
120545		Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Le Marchand L 2001	11751443	CYP1A2 rapid phenotype			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Oahu. Hawaii		TJB	1544	Hs.1361			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1259-66			124060	1586	1	2001		Case:349; Control:467	meat doneness smoking (tobacco)									
120541		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Haiman, C. A.  et al. 2003	12602902				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		108330	26818	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
120542		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	15	15q22-q24	CYP1A1	72798942	72804930		Watanabe, I.  et al. 2003	12732844				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	CDC GDPinfo	1543	Hs.72912			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		108330	27899	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
120539	Y	breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Hefler, L. A.  et al. 2004	15241822				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		108330	25915	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
120540		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Malats, N.   2001	12120227				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		108330	26817	2	2001	Review article		alcohol smoking (tobacco)									
120535		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang, P. N.  et al. 2004	15591802				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Taiwan	CDC GDPinfo	1543	Hs.72912			Dementia and geriatric cognitive disorders. 2005 ;19(3-Feb):120-5	Estrogen-metabolizing gene COMT polymorphism synergistic APOE epsilon4 allele increases the risk of Alzheimer disease.		108330	25911	2	2004	Further studies to clarify this interaction may improve our understanding of the generic risks for AD.	Case:66 patients with Alzheimer's disease;Control:86 age- and gender-matched normal subjects										
120536		menopause	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Hefler, L. A.  et al. 2005	15774541				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDPinfo	1543	Hs.72912			Human reproduction (Oxford, England). 2005 May;20(5):1422-7	Estrogen-metabolizing gene polymorphisms and age at natural menopause in Caucasian women		108330	25912	2	2005	 We present the most comprehensive data on estrogen-metabolizing gene polymorphisms and timing of natural menopause to date. The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women.	Cohort 1,360 Caucasian women with natural menopause 										
120537		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Huber, A.  et al. 2005	16202920				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		108330	25913	2	2005												
120533		menarche; menopause	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Gorai, I.  et al. 2003	12574216				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese		CDC GDPinfo	1543	Hs.72912			The Journal of clinical endocrinology and metabolism. 2003 Feb;88(2):799-803	Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women.		108330	24226	2	2003	The results suggest that the estrogen-metabolizing CYP17 genotype influences age at menarche in healthy postmenopausal Japanese women.	Cohort 317 postmenopausal Japanese women, aged 46 yr and over 										
120534		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Sepehr, A.  et al. 2004	15327835				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	1543	Hs.72912			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		108330	25909	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
120529		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Le Marchand, L.  et al. 2005	16103451				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		108330	24222	2	2003												
120530		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Yin, P. H.  et al. 2004	15341023				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Taiwan	CDC GDPinfo	1543	Hs.72912			Cancer letters. 2004 Aug;212(2):195-201	Polymorphisms of estrogen-metabolizing genes and risk of hepatocellular carcinoma in Taiwan females		108330	24223	2	2004	These findings strongly suggest that estrogen play a critical role in female hepatocarcinogenesis.	Case hepatocellular carcinoma patients:Taiwan;Control:controls										
120531		estrogen	UNKNOWN	UNK	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Lurie, G.  et al. 2005	15941966				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1521-7	Association of genetic polymorphisms with serum estrogens measured multiple times during a 2-year period in premenopausal women.		108330	24224	2	2005												
120526	N	endometriosis	REPRODUCTION	REP	Endometriosis	15	15q22-q24	CYP1A1	72798942	72804930		Watanabe, T.  et al. 2001	11393538				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of human genetics. 2001 ;46(6):342-6	Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis ofpolymorphism in endometriosis.		108330	24219	2	2001	No association was found between uterine endometriosis and any polymorphisms in the AHRR, AHR, ARNT, or CYP1A1 genes analyzed in the present study.	Cohort 108 healthy women Japan 										
120527		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Esfandiary, H.  et al. 2005	15774926				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		108330	24220	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
120528		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Sturgis, E. M.  et al. 2002	11981277				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		108330	24221	2	2002	Review article											
120523		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			11436564				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		108330	24216	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
120524		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		De Jong, M. M.  et al. 2002	12433710				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		108330	24217	2	2002	Review article											
120525		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tsuchiya, M.  et al. 2005	16084889				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Fertility and sterility. 2005 Aug;84(2):454-8	Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution toendometriosis susceptibility and severity.		108330	24218	2	2005	 AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.											
120520		hot flashes	OTHER	OTH	Genetic Predisposition to Disease|Hot Flashes	15	15q22-q24	CYP1A1	72798942	72804930			16319265				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Obstetrics and gynecology. 2005 Dec;106(6):1372-81	Cytochrome Gene Polymorphisms, Serum Estrogens, and Hot Flushes in Midlife Women		108330	20944	2	2005	 These data suggest that a CYP1B1 polymorphism may be associated with severe and persistent hot flushes, independent of E2 and estrone levels.		estrogen									
120521		intrauterine growth	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Yamada, H.  et al. 2004	14665706				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Molecular human reproduction. 2004 Jan;10(1):49-53	A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.		108330	20945	2	2004	The polymorphism of CYP17 that encodes the cytochrome P450c17alpha enzyme might be associated with the pathophysiology underlying fetal growth restriction.	Cohort 134 women who experienced singleton deliveries beyond 24 weeks gestation 										
120522		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Miyoshi, Y.  et al. 2003	14602139				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Eur J Cancer. 2003 Nov;39(17):2531-7	Association of genetic polymorphisms in CYP19 and CYP1A1 with the oestrogen receptor-positive breast cancer risk.		108330	20946	2	2003	The combiYatioY of CYP19 (TTTA)(7(-3bp)) aYd CYP1A1 (6235)C/T polymorphisms is associated with aY ER-positive, but Yot ER-Yegative, breast caYcer risk, aYd, thus, would be useful iY the selectioY of caYdidates for chemopreveYtioY with tamoxifeY.	Control:191 healthy female controls;Case:257 breast cancer patients										
120517		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Xing, D.  et al. 2003	12883749				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese	China	CDC GDPinfo	1543	Hs.72912			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		108330	20941	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
120518		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Almeida, S.  et al. 2005	16130011				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			The pharmacogenomics journal. 2005 ;5(6):346-51	Estrogen-metabolizing gene polymorphisms and lipid levels in women with different hormonal status.		108330	20942	2	2005			hormone replacement therapy									
120519		ovarian cancer	CANCER	CAN	Carcinoma|Ovarian Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Sellers, T. A.  et al. 2005	16284375				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2536-43	Estrogen bioactivation, genetic polymorphisms, and ovarian cancer.		108330	20943	2	2005												
120515		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	15	15q22-q24	CYP1A1	72798942	72804930		Krajinovic, M.  et al. 2002	11895912				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		108330	20939	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
120516		leukemia/lymphoma, T-Cell	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tsukasaki, K.  et al. 2001	11325850				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		108330	20940	2	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
120512		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang, X.  et al. 2001	11520401				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		China	CDC GDPinfo	1543	Hs.72912			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		108330	20936	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
120514		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Houlston, R. S.  et al. 2001	11487538				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		108330	20938	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
120510		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Chowbay, B.  et al. 2005	15931768				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		108330	20934	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
120511	Y	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Dialyna, I. A.  et al. 2001	11408954				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			International journal of molecular medicine. 2001 Jul;8(1):79-87	Genetic polymorphisms and transcriptional pattern analysis of CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes in breast cancer.		108330	20935	2	2001	Genotyping analysis did not show any correlation to breast cancer risk. However, RT-PCR analysis provided evidence that CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes are frequently deregulated in breast cancer and could be used as molecular biomarkers for better clinical management of such patients, with respect to chemotherapy.	Control:171 age and sex matched controls;Case:207 female breast cancer patients										
120507		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Figer, A.  et al. 2003	14719475				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		108330	20145	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
120508		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930			16393248				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		108330	20197	2	2006			alcohol smoking (tobacco)									
120505	Y	macular degeneration	VISION	VIS	Macular Degeneration	15	15q22-q24	CYP1A1	72798942	72804930		Kimura, K.  et al. 2000	11124296				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			American journal of ophthalmology. 2000 Dec;130(6):769-73	Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration		108330	19664	2	2000	 The results suggest that manganese superoxide dismutase gene polymorphism is associated with exudative age-related macular degeneration. Microsomal epoxide hydrolase is another enzyme that may be associated with the disease. The exudative form of age-related macular degeneration may have genetic risk factors against oxidative stress and/or effects of xenobiotics. Further association studies in other polymorphic genes for xenobiotic-metabolizing enzymes are needed to elucidate the environmental-genetic interaction in the underlying cause of age-related macular degeneration.	Case:102 patients with the exudative form of age-related macular degeneration who were recruited in the Kagoshima University Hospital.:Japanese between 1993 and 1998;Control:200 systemically healthy individuals who had no senescent ocular disorders and were over 50 years of age.										
120506		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang, X. L.  et al. 2003	12704594				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Progress in cardiovascular diseases. 2003 Mar-Apr;45(5):361-82	Genetic influence on cigarette-induced cardiovascular disease.		108330	19675	2	2003	Review article		smoking (tobacco)									
120503	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Liang, G. Y.  et al. 2004	15640066				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese	China	CDC GDPinfo	1543	Hs.72912			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		108330	17051	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
120504	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			12018173				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Genetika. 2002 Apr;38(4):539-45	[Polymorphic genes of xenobiotic-metabolizing enzymes associated with bronchial asthma in genetically predisposed children]		108330	18508	2		The results obtained suggest an important role of xenobiotic-metabolizing enzymes in development of bronchial asthma.	Case children with bronchial asthma;Control healthy children	smoke (tobacco), passive									
120501		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Leng, S. G.  et al. 2004	15061915				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		108330	17046	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)	GSTM1		NQO1		mEH gene		Y	occupational PAH-exposure	chromosomal damage in peripheral blood lymphocytes among coke oven workers
120502		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Turner, F.  et al. 2004	15352038				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Great Britain	CDC GDPinfo	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		108330	17050	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
120498	Y	breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Krajinovic, M.  et al. 2001	11291049				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Canadian	Canada|France	CDC GDPinfo	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		108330	17036	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
120500		emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Budhi, A.  et al. 2003	12579334				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	CDC GDPinfo	1543	Hs.72912			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		108330	17042	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
120496	N	leukemia, adult acute	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid|Acute Disease	15	15q22-q24	CYP1A1	72798942	72804930		Roddam, P. L.  et al. 2000	11037802				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Pharmacogenetics. 2000 Oct;10(7):605-15	Poor metabolizers at the cytochrome P450 2D6 and 2C19 loci are at increased risk of developing adult acute leukaemia.		108330	16187	2	2000	For this CYP450 locus, an increased risk was suggested in secondary leukaemia (OR 2.67, 95% CI 0.44-16.3) and amongst AML cases with a chromosomal abnormality (OR 6.72, 95% CI 2.22-20.4). No difference in CYP1A1 genotype distribution was found for acute leukaemia, AML, ALL or any other diagnostic classification group used. No significant interactions between CYP2D6, CYP2C19 or CYP1A1 were found.	Case:550 cases of acute leukemia;Control:950 matched controls	smoking (tobacco)							N	age-related association (40 years and over)	adult acute leukaemia
120497		1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Kuljukka-Rabb, T.  et al. 2002	11859435				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of exposure analysis and environmental epidemiology. 2002 Jan-Feb;12(1):81-91	The effect of relevant genotypes on PAH exposure-related biomarkers.		108330	16511	2	2002	Our study shows that a comprehensive assessment of exposure is essential for elucidation of PAH exposure at a workplace. Even at high exposures metabolic polymorphisms seem to have some effect on biomarker levels, and should be assessed in biomonitoring studies	Cohort coke oven workers ;Control controls not specified	smoking (tobacco)									
120494	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Doherty, J. A.  et al. 2005	15734958				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):357-66	Genetic factors in catechol estrogen metabolism in relation to the risk of endometrial cancer.		108330	16019	2	2005	Some of our findings are consistent with the hypothesis that increased estrogen 2-hydroxylation is associated with decreased endometrial cancer risk, but replication of these results is required before any firm conclusions can be reached.	Case:371 population-based endometrial cancer cases;Control:420:controls										
120495		2,3,7,8-Tetrachlorodibenzo-p-dioxin; pharmacokinetics	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Landi, M. T.  et al. 2005	15596250				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Italian		CDC GDPinfo	1543	Hs.72912			Toxicology. 2005 Feb;207(2):191-202	CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy.		108330	16029	2	2005	Genetic variation in cytochrome P450 induction may identify subjects with variable responsiveness to TCDD and potentially increased risk of disease.	Cohort 121 subjects from the Seveso population accidentally exposed to 2,3,7,8-Tetrachlorodibenzo-p-dioxin Italy 1976 										
120492		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		England	CDC GDPinfo	1543	Hs.72912			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		108330	16009	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
120493		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Le Marchand, L.   2002	12484238				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			IARC scientific publications. 2002 ;156:481-5	Meat intake, metabolic genes and colorectal cancer		108330	16011	2	2002	Thus, our data provide additional suppurt for the hypotheses that nitrosamines are carcinogenic to the rectum in humans and that red meat and particularly processed meats are significant sources of exposure for these compounds.	Case:727 Japanese, Caucasian or Native Hiwaiian colorectal cancer cases;Control:727 controls matched on sex, age and ethnicity	aspirin diet meat physical activity smoking (tobacco)									
120489	Y	endometriosis	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Peng, D.  et al. 2003	12903034				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):284-6	[Association between gene mutation of cytochrome P450 1A1 in exon 7 A4889G locus and susceptibility to endometriosis]		108330	16005	2	2003	 The above results suggest that gene mutation of CYP1A1 in exon 7 A4889G locus might be a genetic susceptible factor of endometriosis. The mutation allele of CYP1A1 gene appears to increase the risk of endometriosis.	Case:76 patients with endometriosis;Control:80 healthy controls										
120491		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Caceres, D.  et al. 2004	15478298				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Rev Med Chil. 2004 Aug;132(8):961-70	[Gene-gene and gene-environment interactions as modifier factors of prostatic cancer risk: "acase-only" design study]		108330	16007	2	2004	 Gene-gene interactions may play a role modulating the susceptibility to PCa in a proportion of affected individuals.	Case:103 biopsy proven prostate cancer cases	smoking (tobacco)	GSTT1		CYP1A1				Y		prostrate cancer
120486		dysmenorrhea	OTHER	OTH	Genetic Predisposition to Disease|Dysmenorrhea	15	15q22-q24	CYP1A1	72798942	72804930		Wu, D.  et al. 2001	11172643				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yi xue yi chuan xue za zhi. 2001 Feb;18(1):47-50	[Analysis on associations of cytochrome P450 1A1-Hinc II and glutathion S-transferase-theta with primary dysmenorrhea]		108330	16002	2	2001	 The results suggested that GSTT1 polymorphism be associated with heavy primary dysmenorrhea.	Cohort 499 female workers in a textile mill 										
120487	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Zhang, H.  et al. 2000	11860900				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2000 Mar;34(2):69-71	[Cytochrome P450IA1 and the genetic susceptibility to esophageal carcinoma]		108330	16003	2	2000	 The mutation of CYPIA1 ,89 site maybe one of important host susceptible factors of EC, and the risk would increase significantly in smokers.	Case:111 cases of esophageal cancer;Control:114 controls not otherwise specified in abstract	smoking (tobacco)									
120488		psoriasis	IMMUNE	IMM	Psoriasis	15	15q22-q24	CYP1A1	72798942	72804930		Richter-Hintz, D.  et al. 2003	12713578				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			The Journal of investigative dermatology. 2003 May;120(5):765-70	Allelic variants of drug metabolizing enzymes as risk factors in psoriasis.		108330	16004	2	2003	This is the first large-scale study on these enzymes and the results obtained support the concept that different activities of metabolizing enzymes can contribute to disease etiology and progression.	Control:235:controls;Case:327 Caucasian psoriasis patients										
120483		1-hydroxypyrene, urinary; 2-naphtol	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Kim, Y. D.  et al. 2003	14646291				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of occupational health. 2003 May;45(3):160-7	Effects of genetic polymorphisms in metabolic enzymes on the relationships between 8-hydroxydeoxyguanosine levels in human leukocytes and urinary 1-hydroxypyrene and 2-naphthol concentrations.		108330	14661	2	2003	In conclusion, there is a significant correlation between the 8-OHdG level in leukocytes and the urinary 1-OHP concentration in the population not occupationally exposed to PAHs. This relationship is affected by genetic polymorphisms in PAH metabolic enzymes.	Cohort 105 healthy Korean males without occupational exposure to polycyclic aromatic hydrocarbons 	smoking (tobacco)									
120484		cytogenetic studies	OTHER	OTH	DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Naccarati, A.  et al. 2005	16043197				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		108330	14805	2	2005												
120485		smoking genotoxic effects	UNKNOWN	UNK		15	15q22-q24	CYP1A1	72798942	72804930		Hoffmann, H.  et al. 2005	16037119				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Mutagenesis. 2005 Sep;20(5):359-64	Genetic polymorphisms and the effect of cigarette smoking in the comet assay.		108330	14841	2	2005												
120481	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Kim, Y. J.  et al. 2005	15734083				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			European journal of obstetrics, gynecology, and reproductive biology. 2005 Mar;119(1):42-6	Oxidative stress-related gene polymorphism and the risk of preeclampsia.		108330	14038	2	2005	 Polymorphisms in the oxidative stress-related genes (CYP1A1, GSTM1, GSTT1, MPO, MnSOD) do not seem to be risk factors for preeclampsia.	Case:121 preeclampsia patients;Control:214 healthy controls with an uncomplicated obstetric:history										
120482	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Noda, N.  et al. 2004	15375499				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Oncology reports. 2004 Oct;12(4):773-9	Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms.		108330	14089	2	2004	In conclusion, these findings suggest that K-ras mutations in smokers with lung adenocarcinoma may be due in part to accumulation of carcinogens, which is not adequately detoxified in individuals with certain CYP1A1 genotypes and the GSTM1(-) genotype.	Cohort 167/246 patients with lung squamous cell carcinoma (n=167) and lung adenocarcinoma (n=246) 	smoking (tobacco)	K-ras		CYP1A1	m1/m2	GSTM1	-	Y	smoking (tobacco)	lung adenocarcinoma
120477	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Yen, J. H.  et al. 2003	12590982				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Taiwan	CDC GDPinfo	1543	Hs.72912			Human immunology. 2003 Mar;64(3):366-73	Manganese superoxide dismutase and cytochrome P450 1A1 genes polymorphisms in rheumatoid arthritis in Taiwan.		108330	14009	2	2003	MnSOD gene polymorphisms are not related to susceptibility to RA in Taiwan, whereas individuals with CYP1A1 4887A tend to avoid the development of RA. Moreover, CYP1A1 4889G/G and 4887C/A may play a role in the development of Sjogren's syndrome, especially in the presence of MnSOD 1183T/T. These findings are preliminary. A further confirmation study is necessary.	Case:112 patients with rheumatoid arthritis:Taiwan;Control:96:controls										
120479		arthritis	IMMUNE	IMM	Arthritis, Reactive	15	15q22-q24	CYP1A1	72798942	72804930		Yen, J. H.  et al. 2003	14687717				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Immunology letters. 2003 Dec;90(3-Feb):151-4	Cytochrome P450 1A1 and manganese superoxide dismutase genes polymorphisms in reactive arthritis.		108330	14019	2	2003	CYP1A1 4887A may be a risk factor for the development of reactive arthritis, especially in the presence of Mn SOD 1183T/T.	Case:43 patients with reactive arthritis following Chlamydia trachomatis infection;Control:92 healthy controls										
120475		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Sunaga, N.  et al. 2002	12163326				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):730-8	Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility.		108330	12994	2	2002	The result indicates that the NQO1-Pro/Pro and GSTT1-null genotypes are risk factors for lung adenocarcinoma development, and that the genetic factors for susceptibility to adenocarcinoma are different from those to squamous cell carcinoma. The enhanced risk of the NQO1-Pro/Pro genotype combined with the GSTT1-null genotype was more evident in smokers than in nonsmokers. Therefore, carcinogens in tobacco smoke, which are activated by NQO1 and detoxified by GSTT1, could have a role in lung adenocarcinoma development.	Control:152 control subjects;Case:198 patients with lung cancer	smoking (tobacco)	NQO1	Pro/Pro	GSTT1	null			Y	smoking (tobacco)	Lung adenocarcinoma
120476		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Li, D.  et al. 2002	11719088				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		108330	14004	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
120473		Alzheimer's disease; asthma	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930			14582397				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Genetika. 2003 Sep;39(9):1268-74	[Polymorphism of genes for xenobiotic metabolism in petrochemical workers]		108330	12654	2	2003	There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, in the corresponding industrial subgroup a clear trend towards lower frequency of rapid acetylators was demonstrated. In addition, the odds ratio of the disease development for the workers with slow acetylator phenotype was 1.7.	Control:controls;Case petrochemical workers occupationally exposed to adverse action of chemical compounds	petrochemicals									
120474		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Lincz, L. F.  et al. 2004	15136237				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Australian		CDC GDPinfo	1543	Hs.72912			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		108330	12656	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
120471	Y	non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	15	15q22-q24	CYP1A1	72798942	72804930		Kerridge, I.  et al. 2002	12139735				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		108330	12648	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
120472	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Gao, J. P.  et al. 2003	12680328				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua nan ke xue. 2003 Feb;9(1):32-5	[Relationship between genetic polymorphisms of metabolizing enzymes and prostate cancer]		108330	12650	2	2003	 The CYP1A1 Ile-Val gene polymorphisms might be associated with the occurrence of prostate cancer, while MspI gene polymorphisms and NAT2 slow acetylator genotype might not be associated with the occurrence of prostate cancer.	Control:112 healthy cases selected as the control randomly;Case:48 patients with prostate cancer										
120468	Y	bronchitis; pneumonia	INFECTION	INF	Bronchitis|Pneumonia|Genetic Predisposition to Disease|Recurrence	15	15q22-q24	CYP1A1	72798942	72804930		Korytina, G. F.  et al. 2005	15928955				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):700-10	Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children.		108330	10984	2	2005	Our findings indicate that the polymorphisms of the CYP1A1, CYP2E1, and GSTT1 genes probably play a substantial part in susceptibility to severe airway and lung injury in cases of children with chronic bronchitis and relapsing pneumonia.	Case:129/50 Tatar children with chronic bronchitis (n=129) and relapsing pneumonia (n=50) South Ural region of Russia;Control:227 ethnically matched healthy individuals										
120469	Y	cytogenetic studies	OTHER	OTH		15	15q22-q24	CYP1A1	72798942	72804930		Cheng, J.  et al. 2005	15938845				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		108330	10985	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
120466	Y	cytogenetic studies	OTHER	OTH		15	15q22-q24	CYP1A1	72798942	72804930		Lodovici, M.  et al. 2004	15298956				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1342-8	Benzo(a)pyrene Diolepoxide (BPDE)-DNA Adduct Levels in Leukocytes of Smokers in Relation to Polymorphism of CYP1A1, GSTM1, GSTP1, GSTT1, and mEH		108330	10969	2	2004	In conclusion, CYP1A1, GSTM1, and GSTP1 genotyping seems to be a risk predictor of BPDE-DNA adduct formation in leukocytes.	Cohort 41 healthy smokers 	smoking (tobacco)									
120467	Y	1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Leng, S. G.  et al. 2004	15355699			3'untranslated	Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		108330	10971	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
120464		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Casson, A. G.  et al. 2003	12670526				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer detection and prevention. 2003 ;27(2):139-46	Associations between genetic polymorphisms of Phase I and II metabolizing enzymes, p53 and susceptibility to esophageal adenocarcinoma.		108330	10957	2	2003	We conclude that  polymorphisms of GSTP1 and mEH may be implicated in individual susceptibility to esophageal adenocarcinoma, possibly as a result of increased Phase I activation (mEH) and impaired Phase II detoxification (GSTP1). GSTT1 may also play a role in esophageal tumorigenesis through a pathway that involves abnormalities in the p53 tumor suppressor gene.	Case:45 patients with surgically resected esophageal:adenocarcinomas;Control:45 healthy controls from the same geographic region matched for age, gender and smoking history										
120465	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang, L. D.  et al. 2003	12854128				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		China	CDC GDPinfo	1543	Hs.72912			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study ofpopulation from a high- incidence area in north China.		108330	10960	2	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
120462		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Soucek, P.  et al. 2002	12397416				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		108330	10954	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
120463		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		De Jong, D. J.  et al. 2003	12631667				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomalepoxide hydrolase.		108330	10956	2	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
120460		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Garte, S.  et al. 2001	11751440				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		108330	10949	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
120461		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	15	15q22-q24	CYP1A1	72798942	72804930		Matthias, C.  et al. 2002	12063626				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		108330	10951	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
120458		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Loktionov, A.  et al. 2001	11408349				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Carcinogenesis. 2001 Jul;22(7):1053-60	Glutathione-S-transferase gene polymorphisms in colorectal cancer patients: interaction betweenGSTM1 and GSTM3 allele variants as a risk-modulating factor.		108330	10944	2	2001	Our findings suggest that interactions of polymorphic genotypes within the GSTM gene cluster affect individual susceptibility to colorectal carcinogenesis, the GSTM3*B variant presence being a risk factor especially in combination with the GSTM1-null genotype.	Case:206 cancer (59 proximal and 147 distal) patients;Control:355 healthy controls		GSTM1	null	GSTM3	*B			Y	smoking	colorectal cancer
120459	Y	DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	15	15q22-q24	CYP1A1	72798942	72804930		Vodicka, P.  et al. 2001	11535253				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		108330	10947	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
120456		sex hormones	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Ko, Y.  et al. 2001	11389067				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		108330	10942	2	2001	The results of the present study indicate that polymorphic variants of CYP1B1 relate significantly to the individual susceptibility of smokers to HNSCC.	Case smoking cases;Control smoking controls	smoking (tobacco)									
120457		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Sarmanova, J.  et al. 2001	11406608				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		108330	10943	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
120452		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Ivashchenko, T. E.  et al. 2003	12760253				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		108330	10312	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
120453		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		108330	10351	2	2002	Review article		smoking (tobacco)									
120450	Y	prostate cancer	CANCER	CAN	Cleft Palate|Cleft Lip|Mouth Abnormalities|Prenatal Exposure Delayed Effects	15	15q22-q24	CYP1A1	72798942	72804930		Hartsfield, J. K. Jr et al. 2001	11471167	tyr113his			Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			American journal of medical genetics. 2001 Jul;102(1):21-4	Analysis of the EPHX1 113 polymorphism and GSTM1 homozygous null polymorphism and oral clefting associated with maternal smoking		108330	10298	2	2001	Using the odds ratio as a measure of association, we did not observe elevated risks of CL/P associated with either allelic comparison. This suggests that when mothers smoke periconceptionally, their infants having these alleles at either (or both) loci were not at substantially increased risk for CL/P compared to infants with the wild-type alleles.	Control:110 tested for EPHX1 genotype;Control:51 tested for GSTM1;Case:79 infants were diagnosed with isolated cleft lip with or without cleft palate tested to GSTM1;Case:85 infants were diagnosed with isolated cleft lip with or without cleft palate tested for EPHX1	smoking (tobacco), maternal									
120451		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Yin, L.  et al. 2001	11551408				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		China	CDC GDPinfo	1543	Hs.72912			Lung cancer (Amsterdam, Netherlands). 2001 Aug-Sep;33(3-Feb):133-41	Genetic polymorphisms of NAD(P)H quinone oxidoreductase, CYP1A1 and microsomal epoxide hydrolase and lung cancer risk in Nanjing, China.		108330	10301	2	2001	Our results suggest that HYL1*2 polymorphism might be a risk factor for smoking-associated lung cancer in China.	Case:84 lung cancer patients:Nanjing, China;Control:84 controls matched by age, gender, occupation and smoking status	smoking (tobacco)									
120448	Y	liver cancer; liver disease	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Silvestri, L.  et al. 2003	12569554				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2003 Apr;104(3):310-7	CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer		108330	10008	2	2003	Polymorphic variants of CYP genes may contribute to the progression of liver disease and HCC risk in HCV-infected subjects.	Case:87/92/91 chronic hepatitis (n=87), cirrhosis (n=92) and hepatocellular carcinoma (n=91) cases;Control:90/99 asymptomatic carriers (n=90) of chronic hepatitis and blood donors (n=99)	hepatitis C									
120449		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Pakakasama, S.  et al. 2005	15981231				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Thailand	CDC GDPinfo	1543	Hs.72912			American journal of hematology. 2005 Jul;79(3):202-5	Polymorphisms of drug-metabolizing enzymes and risk of childhood acute lymphoblastic leukemia.		108330	10027	2	2005												
120446	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang, J.  et al. 2000	11798822				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese		CDC GDPinfo	1543	Hs.72912			Zhonghua yi xue za zhi. 2000 Aug;80(8):585-7	[Association between cytochrome P-450 enzyme gene polymorphisms and Parkinson's disease]		108330	9981	2	2000	 Our data suggest that CYP1A1 gene polymorphisms might be a genetic susceptible factor for early-onset PD, and CYP2E1 RsaI and PstI polymorphisms might not be a genetic susceptible factor for both early- and late-onset PD in the Chinese population tested.	Control:150 urelated healthy controls;Case:158 patients with Parkinson's disease										
120447		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Mathonnet, G.  et al. 2003	14510941				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Canada	CDC GDPinfo	1543	Hs.72912			British journal of haematology. 2003 Oct;123(1):45-8	Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.		108330	9984	2	2003	This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.	Case:287 French-Canadian children with acut lymphoblastic:leukemia;Control:320 French-Canadian healthy controls		MLH1	Val-219	GSTM1	null	CYP1A1	2A	Y	exposure to xenobiotics	Acute lymphoblastic leukaemia (ALL)
120444		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Li, W. Y.  et al. 2004	15769360				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1042-5	[The relationship between genetic polymorphism of metabolizing enzymes and the genetic susceptibility to lung cancer]		108330	9972	2	2004	 Smoking and GSTM1-null genotype seemed to be the risk factors of lung cancer. Those who carrying GSTM1-null genotype and smoking cigarettes were prone to suffer from lung cancer to become the high-risk population of the disease.	Control:200:controls;Case:217 lung cancer cases	smoking (tobacco)									
120445		manganism, susceptibility to occupational chronic	OTHER	OTH	Central Nervous System Diseases|Manganese Poisoning|Occupational Diseases	15	15q22-q24	CYP1A1	72798942	72804930		Zheng, Y. X.  et al. 2002	12171760				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Biomarkers. 2002 Jul-Aug;7(4):337-46	Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.		108330	9977	2	2002	The results suggest that CYP2D6L gene polymorphism might influence susceptibility to manganese-induced neurotoxicity. However, because of limited sample size, our results should be validated in large-scale studies.	Case:49 patients with chronic manganism;Control:50 unrelated healthy controls who were welders and ferromanganese smelters and occupationally exposed to manganese dust and fume in the same workshops from three metallurgical industries										
120441		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Han, W.  et al. 2004	14734460				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Korea	CDC GDPinfo	1543	Hs.72912			Clinical cancer research. 2004 Jan;10(1 Pt 1):124-30	Associations between Breast Cancer Susceptibility Gene Polymorphisms and Clinicopathological Features		108330	9832	2	2004	 These results indicate that polymorphisms of some selected breast cancer susceptibility genes are associated with the clinicopathological phenotypes of breast cancer.	Cohort 664 Korean primary breast cancer patients 										
120442	N	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wenzlaff AS et al. 2005	16051642				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		United States	CDC GDPinfo	1543	Hs.72912			Carcinogenesis. 2005 Dec;26(12):2207-12	CYP1A1 and CYP1B1 polymorphisms and risk of lung cancer among never smokers: a population-basedstudy.		108330	9842	2	2005			smoke (tobacco), passive							Y	environmental tobacco smoke - passive	lung cancer
120438	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Murata, M.  et al. 2001	11275366				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	CDC GDPinfo	1543	Hs.72912			Cancer letters. 2001 Apr;165(2):171-7	Genetic polymorphisms in cytochrome P450 (CYP) 1A1, CYP1A2, CYP2E1, glutathione S-transferase (GST) M1 and GSTT1 and susceptibility to prostate cancer in the Japanese population		108330	9790	2	2001	This study suggests that the CYP1A1 polymorphism and its combination with GSTM1 may be associated with PCa susceptibility in the Japanese population.	Case not specified in abstract;Control not specified in abstract										
120440	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Saijo, Y.  et al. 2004	15299091				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Japan	CDC GDPinfo	1543	Hs.72912			Molecular human reproduction. 2004 Oct;10(10):729-33	Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not involved in the risk of recurrent pregnancy loss		108330	9808	2	2004	The present study suggests that the Ah receptor, CYP1A1, CYP1A2 and CYP1B1 gene polymorphisms are not major genetic regulators in RPL.	Case:113 Japanese women with recurrent pregnancy loss;Control:203 ethnically matched women experiencing at least one live birth and no spontaneous abortions										
120435		colorectal cancer; esophageal cancer	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Liu, S. Z.  et al. 2004	15552037				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Yi chuan xue bao. 2004 Oct;31(10):1045-52	[Detecting genetic polymorphisms of CYP1 A1 and GSTM1 simultaneously with oligonucleotide microarray]		108330	9785	2	2004	Of 84 cases, 47.6% were calssified as GSTM1 null, close to the published data. It's interesting that there lack three genotypes of m1 -m2 locus in the	Cohort 84 healthy unrelated volunteers 										
120436	Y	preterm delivery	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Jin, Y.  et al. 2004	15605089				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Beijing da xue xue bao Yi xue ban. 2004 Dec;36(6):595-9	[Association of cytochrome P450 gene MSP1 polymorphism and risk of preterm.]		108330	9786	2	2004	 Both infant and maternal CYP1A1 C/C6235 genotype both can increase the risk of preterm delivery in our study population, which suggests a possible role of human cytochrome P450 variability in the etiology of preterm delivery.	Control:247 families with full term infants;Case:249 families with preterm delivery infants:Anqing, China										
120437		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			16318816				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Nov;43(22):1467-70	[Polymorphism of metabolic gene and genetic susceptibility to prostate cancer.]		108330	9787	2	2005	 GSTM1 [null] genotype may be linked to prostate caner risk in Chinese population. GSTM1 [null] genotype was also related to the stage and grade, which may be helpful in determining the risk of locally disease and advanced PC.											
120433	Y	anemia, iron deficiency	HEMATOLOGICAL	HEM	Anemia, Iron-Deficiency|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			12934333				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Klinicheskaia laboratornaia diagnostika. 2003 Jul;(7):40-2	[Polymorphism of xenobiotic detoxication genes in patients with iron deficiency anemia]		108330	9782	2	2003	Combinations of genotypes according to polymorphous systems of CYP1A1, GSTM1 and Nat2 were detected, which is typical of IDA patients and which can be used as molecular-genetic markers of the disease.	Case:102 patients with iron-deficiency anemia (IDA);Control:105 virtually healthy persons		CYP1A1		GSTM1		Nat2		Y		iron deficiency anemia
120434		lung cancer	CANCER	CAN	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Wang, B. G.  et al. 2004	15059326				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Feb;26(2):93-7	[A case control study on the impact of CYP450 MSPI and GST-M1 polymorphisms on the risk of lung cancer]		108330	9783	2	2004	 The combination of two genetic polymorphisms significantly increases the risk of lung cancer.	Control:138:controls;Case:91 lung cancer cases:Guangzhou										
120429	N	Parkinson's disease	NEUROLOGICAL	NEUR		15	15q22-q24	CYP1A1	72798942	72804930		Liu, P.  et al. 2001	11484167				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):283-5	[Genetic polymorphisms of cytochrome P450 1A1 and susceptibility of early-onset Parkinson's disease]		108330	9778	2	2001	 The above results suggest that the Msp I polymorphisms of cytochrome P450 1A1 itself might not be associated with idiopathic early-onset Parkinson's disease.	Case:126 patients with idiopathic early-onset Parkinson's:disease;Control:172 healthy controls										
120431		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Duell, E. J.  et al. 2002	12183419				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Cancer research. 2002 Aug;62(16):4630-6	A Population-based Study of the Arg399Gln Polymorphism in X-Ray Repair Cross- Complementing Group 1 (XRCC1) and Risk of Pancreatic Adenocarcinoma		108330	9780	2	2002	Our results suggest that the XRCC1 399Gln allele is a potentially important determinant of susceptibility to smoking-induced pancreatic cancer. Our findings, including stronger associations and interactions among women, require replication in additional study populations.	Case:309 cases of pancreatic adenocarcinoma San Francisco Bay Area, California:1994-2001;Control:964:controls	obesity smoking (tobacco)	XRCC1	399Gln	GSTT1 (in women)	null	GSTM1 (in women)	null		smoking (tobacco)	pancreatic cancer
120426		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Scleroderma, Systemic	15	15q22-q24	CYP1A1	72798942	72804930		von Schmiedeberg S 1999	10599336				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			Y Wang	1543	Hs.72912			Advances in experimental medicine and biology. 1999 ;455:147-52	Polymorphisms of the xenobiotic-metabolizing enzymes CYP1A1 and NAT-2 in systemic sclerosis and lupus erythematosus.		108330	1583	1	1999												
120427	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang J et al. 2000	11798822				cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese		KGB	1543	Hs.72912			Zhonghua yi xue za zhi. 2000 Aug;80(8):585-7	Association between cytochrome P-450 enzyme gene polymorphisms and Parkinson's disease		108330	1584	1	2000	 Our data suggest that CYP1A1 gene polymorphisms might be a genetic susceptible factor for early-onset PD, and CYP2E1 RsaI and PstI polymorphisms might not be a genetic susceptible factor for both early- and late-onset PD in the Chinese population tested.											
120428	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Xue, K.  et al. 2001	11295132				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese		CDC GDPinfo	1543	Hs.72912			Zhonghua yi xue yi chuan xue za zhi. 2001 Apr;18(2):125-7	[Polymorphisms of the CYP1A1 and GSTM1 genes and their combined effects on individual susceptibility to lung cancer in a Chinese population]		108330	9777	2	2001	 There is a synergy of susceptible genotypes GSTM1 0/0 and CYP1A1 Val/Val or CYP1A1 Ile/Val to enhance the individual susceptibility to lung cancer.	Case:106 patients with lung cancer;Control:106 paired non-cancer control persons										
120423		blood dioxin	OTHER	OTH	Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tsuchiya Y 2003	12729704				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	KGB	1543	Hs.72912	dietary habits		Chemosphere. 2003 Jul;52(1):213-9	Effects of dietary habits and CYP1A1 polymorphisms on blood dioxin concentrations in Japanese men.		108330	1580	1	2003												
120424	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930	< 0.005	Yen JH 2003	14611903			coding sequence	Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Taiwanese		Y Wang	1543	Hs.72912			Immunology letters. 2003 Nov;90(1):19-24	Cytochrome P450 and manganese superoxide dismutase genes polymorphisms in systemic lupus erythematosus.		108330	1581	1	2003	 CYP1A1 4887A may be a precipitating factor for the development of SLE. It also tended to be associated with the occurrence of renal involvement in SLE patients. A synergistic effect was found between CYP1A1 4887C/A and Mn SOD 1183T/T on the susceptibility to SLE.	Case:90; Control:94										
120425	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Yen JH 2004	15124938			coding sequence	Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Taiwanese	Taiwan	KGB	1543	Hs.72912			Scandinavian journal of rheumatology. 2004 ;33(1):19-23	Cytochrome p450 1Al gene polymorphisms in patients with psoriatic arthritis.		108330	1582	1	2004	 CYP1A1 4887A and 4889G may be precipitating factors for susceptibility to psoriatic arthritis in Taiwan. An additive effect was found between CYP1A1 4887A and 4889G.	Case:52; Control:90										
120420	Y	esophageal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Wang LD 2003	12854128				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	north Chinese	China	KGB	1543	Hs.72912			World journal of gastroenterology. 2003 Jul;9(7):1394-7	CYP1A1, GSTs and mEH polymorphisms and susceptibility to esophageal carcinoma: study of population from a high- incidence area in north China.		108330	1577	1	2003	 The present results suggest that CYP1A1 3' polymorphism may be one of the promising protective factors and its wild gene type may be an indicator for higher susceptibility to esophageal cancer. mEH slow allele variant, associated with the progression of esophageal precancerous lesions, may contribute to the high susceptibility to esophageal carcinoma.	Case Chinese esophageal cancer patients north China;Control:controls										
120421	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Chang BL 2003	12845676				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2003 Sep;106(3):375-8	Polymorphisms in the CYP1A1 gene are associated with prostate cancer risk.		108330	1578	1	2003												
120422		blood dioxin	OTHER	OTH	Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tsuchiya Y 2003	12729704				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	KGB	1543	Hs.72912	dietary habits		Chemosphere. 2003 Jul;52(1):213-9	Effects of dietary habits and CYP1A1 polymorphisms on blood dioxin concentrations in Japanese men.		108330	1579	1	2003												
120418	N	xenobiotic metabolism	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930	n	Makarova OV 2003	14582397	1462V mutation in exon 17		coding sequence	Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Russian petrochemical workers		KGB	1543	Hs.72912			Genetika. 2003 Sep;39(9):1268-74	Polymorphism of genes for xenobiotic metabolism in petrochemical workers , trans Polimorfizm genov metabolizma ksenobiotikov u rabochikh neftekhimicheskikh proizvodstv.		108330	1575	1	2003	There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, in the corresponding industrial subgroup a clear trend towards lower frequency of rapid acetylators was demonstrated. In addition, the odds ratio of the disease development for the workers with slow acetylator phenotype was 1.7.	Control:controls;Case petrochemical workers occupationally exposed to adverse action of chemical compounds	petrochemicals									
120419		smoking	CANCER	CAN	Carcinoma, Adenosquamous|Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Kiyohara C 2003	12925969				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	KGB	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2003 Oct;107(1):139-44	Risk modification by CYP1A1 and GSTM1 polymorphisms in the association of environmental tobacco smoke and lung cancer: a case-control study in Japanese nonsmoking women.		108330	1576	1	2003												
120415	N	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease	15	15q22-q24	CYP1A1	72798942	72804930	n	Chan DK 2002	11793160				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese	Hong Kong	KGB	1543	Hs.72912			J Neural Transm. 2002 ;109(1):35-9			108330	1572	1	2002												
120416	N	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930	n	Tefre T et al. 1991	1726950				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Norwegian	Norway	KGB	1543	Hs.72912			Pharmacogenetics. 1991 Oct;1(1):20-5	Human CYP1A1 (cytochrome P(1)450) gene: lack of association between the Msp I restriction fragment length polymorphism and incidence of lung cancer in a Norwegian population.		108330	1573	1	1991												
120417	N	lung cancer	CANCER	CAN	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930	n	Kelsey KT et al. 1994	8020143				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Carcinogenesis. 1994 Jun;15(6):1121-4	A race-specific genetic polymorphism in the CYP1A1 gene is not associated with lung cancer in African Americans.		108330	1574	1	1994												
120412	Y	cancer susceptibility	CANCER	CAN	Lung Neoplasms|Disease Susceptibility	15	15q22-q24	CYP1A1	72798942	72804930		Persson I et al. 1997	9070254				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Biochemical and biophysical research communications. 1997 Feb;231(1):227-30	In vitro kinetics of two human CYP1A1 variant enzymes suggested to be associated with interindividual differences in cancer susceptibility.		108330	1569	1	1997												
120413	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Susceptibility	15	15q22-q24	CYP1A1	72798942	72804930		Taioli E et al. 1995	7641189				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		United States	KGB	1543	Hs.72912			Cancer research. 1995 Sep;55(17):3757-8	A CYP1A1 restriction fragment length polymorphism is associated with breast cancer in African-American women.		108330	1570	1	1995												
120414	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Disease Susceptibility	15	15q22-q24	CYP1A1	72798942	72804930		Hirvonen A et al. 1993	7908263				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Environmental health perspectives. 1993 Oct;101 Suppl 3:109-12	Polymorphism in CYP1A1 and CYP2D6 genes: possible association with susceptibility to lung cancer.		108330	1571	1	1993												
120409	Y	smoking	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Nakachi K et al. 1995	7554077				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912	smoking		Carcinogenesis. 1995 Sep;16(9):2209-13	Association of cigarette smoking and CYP1A1 polymorphisms with adenocarcinoma of the lung by grades of differentiation.		108330	1566	1	1995												
120411	Y	lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms|Disease Susceptibility	15	15q22-q24	CYP1A1	72798942	72804930		Nakachi K et al. 1993	8319207				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	KGB	1543	Hs.72912			Cancer research. 1993 Jul;53(13):2994-9	Polymorphisms of the CYP1A1 and glutathione S-transferase genes associated with susceptibility to lung cancer in relation to cigarette dose in a Japanese population.		108330	1568	1	1993												
120406		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Rebbeck TR et al. 1994	8000303				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 1994 Sep;3(6):511-4	Genetics of CYP1A1: coamplification of specific alleles by polymerase chain reaction and association with breast cancer.		108330	1563	1	1994												
120407	Y	adenocarcinoma of the lung	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Taioli E et al. 1995	7834609				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		United States	KGB	1543	Hs.72912			Cancer research. 1995 Feb;55(3):472-3	A specific African-American CYP1A1 polymorphism is associated with adenocarcinoma of the lung.		108330	1564	1	1995												
120408	Y	CYP1A1 genetic polymorphisms	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Miyoshi Y et al. 2002	12100112				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese	Japan	KGB	1543	Hs.72912			The breast journal. 2002 Jul-Aug;8(4):209-15	Breast cancer risk associated with CYP1A1 genetic polymorphisms in Japanese women.		108330	1565	1	2002												
120403	N	lung cancer	CANCER	CAN	Lung Neoplasms|Lung Diseases|Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930	n	Hirvonen A et al. 1992	1284589				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Finnish	Finland	KGB	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 1992 Sep-Oct;1(6):485-9	Point-mutational MspI and Ile-Val polymorphisms closely linked in the CYP1A1 gene: lack of association with susceptibility to lung cancer in a Finnish study population.		108330	1560	1	1992												
120404		oral squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tanimoto K et al. 1999	10435155				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Japan	KGB	1543	Hs.72912			Oral oncology. 1999 Mar;35(2):191-6	Polymorphisms of the CYP1A1 and GSTM1 gene involved in oral squamous cell carcinoma in association with a cigarette dose.		108330	1561	1	1999												
120405	Y	CYP1A1 polymorphisms	CANCER	CAN	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Ishibe N et al. 1997	9419406				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		United States	KGB	1543	Hs.72912			Cancer epidemiology, biomarkers & prevention. 1997 Dec;6(12):1075-80	Susceptibility to lung cancer in light smokers associated with CYP1A1 polymorphisms in Mexican- and African-Americans.		108330	1562	1	1997												
120400	Y	Cigarette Smoking. Coronary Artery Disease. and Diabetes	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930	?	Wang XL 2002	11996959	C			Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Atherosclerosis. 2002 Jun;162(2):391-7			108330	1557	1	2002												
120401	Y	lung cancer	CANCER	CAN	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Wang YC et al. 1999	10418172				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Zhonghua yi xue za zhi. 1999 Jul;62(7):402-10	Influence of polymorphism at p53 CYP1A1 and GSTM1 loci on p53 mutation and association of p53 mutation with prognosis in lung cancer.		108330	1558	1	1999	 Our data suggest that p53 gene mutation may not be associated with polymorphisms of p53, CYP1A1 and GSTM1 genes, and it may have no significant effect on the prognosis of lung cancer patients in Taiwan.											
120402	Y	lung cancer	CANCER	CAN	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Kawajiri K et al. 1996	8548778				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912			Cancer research. 1996 Jan;56(1):72-6	Association of CYP1A1 germ line polymorphisms with mutations of the p53 gene in lung cancer.		108330	1559	1	1996												
120397		testosterone; estradiol; androstenedione; DHEA; progesterone	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086		Garcia-Closas, M.  et al. 2002	12385014				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):172-8	Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.		107910	25908	2	2002	Our data suggest that circulating levels of progesterone might be related to parity and alcohol consumption, however the biological plausibility of the observed associations is unclear. We found little support for an influence of the evaluated genetic polymorphisms in the steroid synthesis and metabolism pathway on serum hormone levels, except for a possible effect of the CYP1B1 L432V and S453N polymorphisms on serum estradiol levels. Copyright 2002 Wiley-Liss, Inc.	Cohort 218 pre-menopausal women from Kaiser Permanente Health Plan Portland, Oregon 	alcohol									
120399	Y	Longevity	AGING	AGE		15	15q22-q24	CYP1A1	72798942	72804930	p=0.03	Taioli E 2001	11162685				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			TJB	1543	Hs.72912			Biochemical and biophysical research communications. 2001 Feb;280(5):1389-92			108330	1556	1	2001		Case:94; Control:418										
120394		sex hormones	METABOLIC	MET	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Tworoger, S. S.  et al. 2004	14744739				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):94-101	Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women.		107910	24214	2	2004	This study provides further evidence that genetic variation may appreciably alter sex hormone concentrations in postmenopausal women not taking hormone therapy.	Cohort 171 postmenopausal women 										
120395	Y	hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Dunning, A. M.  et al. 2004	15199113				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		England	CDC GDPinfo	1588	Hs.511367			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		107910	24215	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
120396		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Haiman, C. A.  et al. 2003	12602902				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		107910	25907	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
120391		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Huber, A.  et al. 2005	16202920				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		107910	24211	2	2005												
120392		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Huber, A.  et al. 2005	16260521				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		107910	24212	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
120393		breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Hefler, L. A.  et al. 2004	15241822				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		107910	24213	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
120388	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent	15	15q21.1	CYP19A1	49288961	49418086		Latil, A. G.  et al. 2001	11571725				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	French		CDC GDPinfo	1588	Hs.511367			Cancer. 2001 Sep;92(5):1130-7	Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways.		107910	24208	2	2001	 The association between the 171-bp allele of CYP19 and prostate carcinoma risk suggests that aromatase could be used as a new indicator for prostate carcinoma prevention in men of White French ethnogeographic origin. Conversely, it is possible that an individual carries both a high- and a low-risk marker (e.g., CYP17 A2 allele and V89L in SRD5A2) resulting in no overall difference in risk observed across the population. For these reasons, the development of a polygenic model, incorporating multiple loci from the individual genes may maximize the chance of identifying individuals with high-risk genotypes.	Control:156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort;Case:226 proatate cancer patients										
120390		menopause	REPRODUCTION	REP		15	15q21.1	CYP19A1	49288961	49418086		Hefler, L. A.  et al. 2005	15774541				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDPinfo	1588	Hs.511367			Human reproduction (Oxford, England). 2005 May;20(5):1422-7	Estrogen-metabolizing gene polymorphisms and age at natural menopause in Caucasian women		107910	24210	2	2005	 We present the most comprehensive data on estrogen-metabolizing gene polymorphisms and timing of natural menopause to date. The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women.	Cohort 1,360 Caucasian women with natural menopause 										
120385		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	15	15q21.1	CYP19A1	49288961	49418086		Tucci, S.  et al. 2001	11232039				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDPinfo	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):446-9	Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus		107910	20931	2	2001	In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. It remains to be determined if this susceptibility gene is the insulin receptor gene itself or a closely located gene. Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS.	Case:85 Caucasian polycystic ovarian syndrome patients;Control:87 age-matched Caucasian control women										
120386		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Han, D. F.  et al. 2005	16232327				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Chinese medical journal. 2005 Sep;118(18):1507-16	Polymorphisms of estrogen-metabolizing genes and breast cancer risk: a multigenic study.		107910	20932	2	2005	 This study supports the hypothesis that breast cancer can be initiated by estrogen exposure and that estrogen metabolizing genes are involved in this mechanism. This multigenic model is useful for identifying individuals who are at higher risks of breast cancer.											
120387		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Guo, S. W.   2005	16244490				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Gynecologic and obstetric investigation. 2005 Oct;61(2):90-105	Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis.		107910	24207	2	2005												
120382		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Berstein, L. M.  et al. 2004	15072828				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer letters. 2004 Apr;207(2):191-6	CYP17 and CYP19 genetic polymorphisms in endometrial cancer: association with intratumoralaromatase activity		107910	20928	2	2004	Thus, specific set of genetic polymorphisms (carrying of CYP17 A1 allele and combination of longest A6 or A7 CYP19 alleles) may predispose to the induction of higher rate of local estrogen biosynthesis in malignant endometrium, that in its turn may support growth of the latter. Further studies are warranted to connect revealed regularities with the type I or II of EC.	Control:116/188 non-affected women primarily of postmenopausal age tested for polymorphisms in CYP19 (n=116) and CYP17:(n=188) gene;Case:136/165 endometrial cancer patients tested for polymorphisms in CYP19 (n=136) and CYP17 (n=165):gene										
120383		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q21.1	CYP19A1	49288961	49418086		Letonja, M.  et al. 2005	16045239				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDPinfo	1588	Hs.511367			Folia biologica. 2005 ;51(3):76-81	Are the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene genetic markers for premature coronary artery disease in Caucasians?		107910	20929	2	2005												
120384		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086			14714492				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Molekuliarnaia biologiia. 2003 Nov-Dec;37(6):975-82	[In Process Citation]		107910	20930	2	2003	Risk of BC was especially high in the presence of both factors (7.3% vs. 0%, P < 0.01). Allele (TTTA)8 and genotype A2/A2 were assumed to be risk factors of BC.	Control:119 healthy women;Case:123 breast cancer patients										
120379		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Donn, R. P.  et al. 2002	12154211				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		Great Britain	CDC GDPinfo	1588	Hs.511367			Rheumatology (Oxford, England). 2002 Aug;41(8):930-6	Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.		107910	20925	2	2002	 The lack of association with polymorphisms of these neuroendocrine genes suggests that they are not involved in susceptibility to JIA.	Control:276 unrelated, healthy UK Caucasian controls;Case:463 clinically characterized UK Caucasian JIA patients										
120380		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Douglas, J. A.  et al. 2005	16103457				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):2035-9	Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.		107910	20926	2	2005												
120381	Y	osteoporosis, postmenopausal; bone density; hormone disturbance	METABOLIC	MET	Osteoporosis, Postmenopausal	15	15q21.1	CYP19A1	49288961	49418086		Somner, J.  et al. 2004	14715870				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):344-51	Polymorphisms in the P450 c17 (17-Hydroxylase/17,20-Lyase) and P450 c19 (Aromatase) Genes: Association with Serum SexSteroid Concentrations and Bone Mineral Density in Postmenopausal Women		107910	20927	2	2004	In conclusion, both CYP 17 and CYP 19 are candidate genes for osteoporosis in postmenopausal women.	Control:116:controls;Case:136 postmenopausal osteoporotic women										
120376		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Modugno, F.  et al. 2001	11595700				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Clinical cancer research. 2001 Oct;7(10):3092-6	Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model ofprostate cancer risk.		107910	20921	2	2001	 Estrogen and aromatase may play a role in prostate cancer. A multigenic model of prostate cancer susceptibility is also supported.	Control:241 Caucasian male controls;Case:88 Caucasian prostate cancer patients										
120377		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	15	15q21.1	CYP19A1	49288961	49418086		Combarros, O.  et al. 2005	16020944				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		Spain	CDC GDPinfo	1588	Hs.511367			Dementia and geriatric cognitive disorders. 2005 ;20(3-Feb):153-7	Interaction between CYP19 aromatase and butyrylcholinesterase genes increases Alzheimer's disease risk.		107910	20922	2	2005												
120378		estradiol; sex hormone binding globulin	UNKNOWN	UNK	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Low, Y. L.  et al. 2005	15668497				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		Europe	CDC GDPinfo	1588	Hs.511367			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):213-20	Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions.		107910	20924	2	2005	We conclude that  higher isoflavone exposure is associated with lower plasma estradiol in postmenopausal women and that this preliminary study is suggestive of the involvement of diet-gene interactions.	Cohort 125 free-living postmenopausal women taking part in a cohort study (European Prospective Investigation of Cancer and Nutrition-Norfolk) 	isoflavones phytoestrogen									
120373	Y	bone density	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086			16344016				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Bone. 2005	A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women		107910	16001	2	2005												
120374		infertility, male	REPRODUCTION	REP	Infertility, Male	15	15q21.1	CYP19A1	49288961	49418086		Galan, J. J.  et al. 2005	16213843				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Fertility and sterility. 2005 Oct;84(4):910-8	Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.		107910	18740	2	2005												
120375		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	15	15q21.1	CYP19A1	49288961	49418086		Roberts, R. O.  et al. 2005	16302261				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			The Prostate. 2006 Mar;66(4):392-404	Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.		107910	20920	2	2005	 Polymorphisms in HSD3B1, CYP19, AKR1C3 genes may be associated with an enlarged prostate in older men. These data provide insights into genes that should be examined further for their potential role in the pathogenesis of BPH. (c) 2005 Wiley-Liss, Inc.											
120370	Y	osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis	15	15q21.1	CYP19A1	49288961	49418086	0.001	Riancho, J. A.  et al. 2005	15794932		Influence on Bone Mineral Density		Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Spanish (Caucasian)		CDC GDPinfo	1588	Hs.511367			Bone. 2005 May;36(5):917-25	Aromatase gene and osteoporosis: relationship often polymorphic loci with bone mineral density.	rs1062033; rs10046	107910	15997	2	2005	Common variations of CYP19-aromatase are associated with differences in BMD that seem to be important from an individual as well as from a population perspective.	Cross-sectional 286 postmenopausal women 										
120371	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Paynter, R. A.  et al. 2005	15800924				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			International journal of cancer. Journal international du cancer. 2005 Aug;116(2):267-74	CYP19 (aromatase) haplotypes and endometrial cancer risk.		107910	15998	2	2005	Our data suggest that there is a high-frequency CYP19 haplotype related to higher estrogen to androgen ratios and increased risk of endometrial cancer and that this association may primarily pertain to postmenopausal women.	Case:222 endometrial cancer cases from the Nurses' Health:Study:1989-1990;Control:666 matched controls										
120372	Y	hyperandrogenism	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Puberty, Precocious|Hyperandrogenism	15	15q21.1	CYP19A1	49288961	49418086		Petry, C. J.  et al. 2005	15802318			other	Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		Great Britain|Spain	CDC GDPinfo	1588	Hs.511367			Human reproduction (Oxford, England). 2005 Jul;20(7):1837-43	Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women.	rs2414096	107910	15999	2	2005	 This study suggests that common variation at the aromatase gene (and not just rare loss-of-function mutations) is associated with androgen excess in girls and young women.	Cohort 109 young women volunteers Oxford, UK ;Case:186 Spanish girls with precocious pubarche:Barcelona, Spain;Control:71 healthy controls										
120367		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Fukatsu, T.  et al. 2004	15330195				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese	Japan	CDC GDPinfo	1588	Hs.511367			Anticancer research. 2004 Jul-Aug;24(4):2431-7	Genetic polymorphisms of hormone-related genes and prostate cancer risk in the Japanese population.		107910	10425	2	2004	This pilot study showed that CYP1B1 and PR polymorphisms, alone or in combination, might be associated with prostate cancer risk. They might, therefore, have potential as a tool for identifying high-risk individuals.	Case:147 Japanese prostate cancer patients;Control:266 urological controls										
120368		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Haiman, C. A.  et al. 2003	12944421				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Human molecular genetics. 2003 Oct;12(20):2679-92	A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.		107910	15993	2	2003	Our findings suggest the hypothesis that women with the long-range CYP19 haplotype 2b-3c may be carriers of a predisposing breast cancer susceptibility allele.	Case:1,355 African-American, Hawaiian, Japanese, Latina and White breast cancer cases from the the Multiethnic Cohort Study;Control:2,580:controls										
120369	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Gennari, L.  et al. 2004	15181061				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2803-10	A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: effects on bone metabolism.		107910	15995	2	2004	In conclusion, differences in estrogen levels due to polymorphism at the aromatase CYP19 gene may predispose men to increased age-related bone loss and fracture risk.	Cohort 300/200 elderly males who were recruited by direct mailing and followed longitudinally for 2 (n = 300) and 4 (n = 200) yr 										
120364	Y	bone density; fractures	METABOLIC	MET	Osteopetrosis|Spinal Fractures|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Dick, I. M.  et al. 2004	15613678				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2		Australia	CDC GDPinfo	1588	Hs.511367			American journal of physiology Endocrinology and metabolism. 2005 May;288(5):E989-95	Association of an aromatase TTTA repeat polymorphism with circulating estrogen, bone structure and biochemistry in older women		107910	9766	2	2004	Therefore, a common polymorphism of the aromatase gene, perhaps in linkage disequilibrium with a functionally significant CYP19 polymorphism, is associated with bone structure and bone turnover, either by local effects or by effects on circulating bioactive estrogen.	Cohort 1257 women aged 70 years and greater 										
120365	N	endometriosis	REPRODUCTION	REP	Endometriosis	15	15q21.1	CYP19A1	49288961	49418086		Tsuchiya, M.  et al. 2005	15640252				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese	Japan	CDC GDPinfo	1588	Hs.511367			Human reproduction (Oxford, England). 2005 Apr;20(	Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19		107910	9767	2	2005	 Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.	Cohort 138 women undergoing diagnostic laparoscopy 										
120366		testosterone; androgen; phytoestrogen	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086		Low, Y. L.  et al. 2005	16251630				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			The Journal of nutrition. 2005 Nov;135(11):2680-6	Polymorphisms in the CYP19 Gene May Affect the Positive Correlations between Serum and Urine Phytoestrogen Metabolites and Plasma Androgen Concentrations in Men.		107910	9774	2	2005	We conclude that  enterolactone and equol are positively associated with plasma androgen concentrations, and interactions with CYP19 gene may be involved.											
120361	Y	bone density; fractures, vertebral	METABOLIC	MET	Fractures, Bone|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Zarrabeitia, M. T.  et al. 2004	15132727				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			European journal of endocrinology. 2004 May;150(5):699-704	A common polymorphism in the 5'-untranslated region of the aromatase gene influences bone mass and fracture risk.		107910	9761	2	2004	 A common biallelic polymorphism in the 5'-untranslated region of the CYP19-aromatase gene was associated with significant differences in bone mass and the risk of vertebral fractures in postmenopausal women. Given the frequency of allelic variants, genotype-related differences appear to be important from the perspective of the individual as well as the general population. Further studies are needed to elucidate underlying mechanisms that may be dependent on differences in estrogen bioactivity at the bone tissue level.	Cohort 299 women (116 premenopausal and 183 postmenopausal) 	calcium height menopause obesity									
120362	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Dialyna, I.  et al. 2004	15177662				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Greek	Greece	CDC GDPinfo	1588	Hs.511367			Toxicology letters. 2004 Jun;151(1):267-71	A tetranucleotide repeat polymorphism in the CYP19 gene and breast cancer susceptibility in a Greek population exposed and not exposed to pesticides.		107910	9762	2	2004	Lack of strong association suggests that the polymorphic TTTA short tandem repeat of CYP19 gene may have not a functional effect on the enzyme's activity and thus its role in the development of breast cancer remains unclear.	Case Greek breast cancer patients;Control healthy Greek women										
120358	Y	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Miyoshi, Y.  et al. 2003	14602139				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Eur J Cancer. 2003 Nov;39(17):2531-7	Association of genetic polymorphisms in CYP19 and CYP1A1 with the oestrogen receptor-positive breast cancer risk.		107910	9755	2	2003	The combiYatioY of CYP19 (TTTA)(7(-3bp)) aYd CYP1A1 (6235)C/T polymorphisms is associated with aY ER-positive, but Yot ER-Yegative, breast caYcer risk, aYd, thus, would be useful iY the selectioY of caYdidates for chemopreveYtioY with tamoxifeY.	Control:191 healthy female controls;Case:257 breast cancer patients		CYP1239	(TTTA)(7(-3bp))	CYP123A123	(6235)C/T			Y		ER positive breast cancer
120359	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Suzuki, K.  et al. 2003	14981949			intron	Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese		CDC GDPinfo	1588	Hs.511367			Anticancer research. 2003 Nov-Dec;23(6D):4941-6	Association of the genetic polymorphism of the CYP19 intron 4[TTTA]n repeat with familial prostate cancer risk in a Japanese population.		107910	9758	2	2003	 In the present study, we found that short polymorphic genotypes of [TTTA]n repeats of the CYP19 gene were associated with familial prostate cancer risk.	Control:116 normal controls;Case:99 Japanese familial prostate cancer cases										
120360	N	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Thyagarajan, B.  et al. 2004	15072827				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer letters. 2004 Apr;207(2):183-9	CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study		107910	9759	2	2004	Our data shows no association between breast cancer and the Leu432Val polymorphism of the CYP1B1 gene or the tetranucleotide repeats of the CYP19 gene.	Case:178 incident breast cancer cases in the Atherosclerosis Risk in Communities study;Control:356 controls in the Atherosclerosis Risk in Communities:study										
120355	Y	endometriosis	REPRODUCTION	REP	Leiomyomatosis|Endometriosis|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Kado, N.  et al. 2002	11925378				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese	Japan	CDC GDPinfo	1588	Hs.511367			Human reproduction (Oxford, England). 2002 Apr;17(4):897-902	Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women.		107910	9750	2	2002	 The results suggest that the 3 bp I/D polymorphism of the CYP19 gene may be weakly associated with the susceptibility of endometriosis in a Japanese population.	Case:140 Japanese patients with endometriosis ( 67 with adenomyosis and/or leiomyomas);Control:177 Japanese healthy control women										
120356	Y	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Lee, K. M.  et al. 2003	12618873				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Korean		CDC GDPinfo	1588	Hs.511367			British journal of cancer. 2003 Mar;88(5):675-8	Genetic polymorphisms of cytochrome P450 19 and 1B1, alcohol use, and breast cancer risk in Korean women.		107910	9753	2	2003	The results suggest that the CYP19 Arg(264)Cys polymorphism modifies breast cancer risk (OR=1.5, 95% CI=1.1-2.2), especially in association with alcohol consumption (P for interaction=0.04), whereas the CYP1B1 Leu(432)Val polymorphism appears to play no role here.	Case Korean breast cancer patients;Control:controls										
120357		bone density	METABOLIC	MET	Osteoporosis	15	15q21.1	CYP19A1	49288961	49418086		Van Pottelbergh, I.  et al. 2003	12843146				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3075-81	Bioavailable estradiol and an aromatase gene polymorphism are determinants of bone mineral density changes in men over 70 years of age.		107910	9754	2	2003	In conclusion, the results of this prospective observational study support the view that BioE(2) is a determinant of bone density changes in elderly men and, furthermore, provide an indication that the aromatase enzyme may exert a direct modulatory action on bone metabolism at the tissue level in elderly men.	Cohort 214 community-dwelling men aged 71-86 yr 										
120352	Y	adult male height	OTHER	OTH		15	15q21.1	CYP19A1	49288961	49418086		Ellis JA et al. 2001	11549641				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			KGB	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 2001 Sep;86(9):4147-50	Significant population variation in adult male height associated with the Y chromosome and the aromatase gene.		107910	1705	1	2001												
120353	Y	Breast Cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288960	49418086		Miyoshi Y et al. 2000	10956405				cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031226	Japanese		KGB	1588	Hs.511367			International journal of cancer. Journal internati	Breast cancer risk associated with polymorphism in CYP19 in Japanese women.		107910	1706	1	2000												
120354	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Berstein, L. M.  et al. 2001	11216915				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Journal of cancer research and clinical oncology. 2001 Feb;127(2):135-8	CYP19 gene polymorphism in endometrial cancer patients		107910	9749	2	2001	 Thus, CYP19 polymorphism might be one of the genetic risk factors for endometrial cancer development.	Control:110 non-affected women;Case:85 endometrial cancer patients										
120349	Y	Female pseudohermaphroditism	OTHER	OTH	Pseudohermaphroditism	15	15q21.1	CYP19A1	49288961	49418086		Ludwig M et al. 1998	9829218				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			KGB	1588	Hs.511367			Journal of pediatric endocrinology & metabolism. 1998 Sep-Oct;11(5):657-64	Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.		107910	1702	1	1998												
120350	Y	prostate carcinoma	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Suzuki K 2003	14508827				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese	Japan	KGB	1588	Hs.511367			Cancer. 2003 Oct;98(7):1411-6	Genetic polymorphisms of estrogen receptor alpha, CYP19~~~ catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population.		107910	1703	1	2003	 Genetic polymorphisms of genes in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.											
120351	N	adult height or insulin resistance	OTHER	OTH	Insulin Resistance	15	15q21.1	CYP19A1	49288961	49418086	n	Weedon MN 2003	12864794				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	UK population	Great Britain	KGB	1588	Hs.511367			Clinical endocrinology. 2003 Aug;59(2):175-9	Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population.		107910	1704	1	2003	 We have not confirmed the initial observation in a larger replication cohort. Our results highlight the importance of replicating initial results from genetic association studies.											
120346		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Liu, Y.  et al. 2005	15654505				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese	Japan	CDC GDPinfo	1586	Hs.438016			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		202110	25906	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
120347		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Goode, E. L.  et al. 2002	12036913				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		202110	27896	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
120348	Y	aromatase excess syndrome	OTHER	OTH	Gynecomastia|Syndrome|Feminization	15	15q21.1	CYP19A1	49288961	49418086		Stratakis CA et al. 1998	9543166				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			KGB	1588	Hs.511367			The Journal of clinical endocrinology and metabolism. 1998 Apr;83(4):1348-57	The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription.		107910	1701	1	1998												
120344		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Haiman, C. A.  et al. 2003	12602902				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		202110	24205	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
120345		testosterone; estradiol; androstenedione; DHEA; progesterone	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Garcia-Closas, M.  et al. 2002	12385014				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):172-8	Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.		202110	24206	2	2002	Our data suggest that circulating levels of progesterone might be related to parity and alcohol consumption, however the biological plausibility of the observed associations is unclear. We found little support for an influence of the evaluated genetic polymorphisms in the steroid synthesis and metabolism pathway on serum hormone levels, except for a possible effect of the CYP1B1 L432V and S453N polymorphisms on serum estradiol levels. Copyright 2002 Wiley-Liss, Inc.	Cohort 218 pre-menopausal women from Kaiser Permanente Health Plan Portland, Oregon 	alcohol									
120341		lymphoma; non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	10	10q24.3	CYP17A1	104580277	104587280		Skibola, C. F.  et al. 2005	16214922				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		San Francisco	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2391-401	Polymorphisms and haplotypes in the cytochrome P450 17A1, prolactin, and catechol-O-methyltransferase genes and non-Hodgkin lymphoma risk.		202110	20918	2	2005												
120342		cirrhosis; liver cancer; hepatitis C, chronic	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Rossi, L.  et al. 2003	12971967				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Journal of hepatology. 2003 Oct;39(4):564-70	Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.		202110	20919	2	2003	 CYP17 high-activity alleles associated with increased circulating levels of estrogens and androgens may affect liver cancer risk in HCV-infected women.	Case:387 hepatitis C virus patients (100 asymptomatic carriers, 105 hepatitis, 90 cirrhosis and 92 hepatocellular carcinomas);Control:78 healthy subjects										
120338		estrogen	UNKNOWN	UNK	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Lurie, G.  et al. 2005	15941966				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1521-7	Association of genetic polymorphisms with serum estrogens measured multiple times during a 2-year period in premenopausal women.		202110	20915	2	2005												
120339		mammographic density	OTHER	OTH	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Maskarinec, G.  et al. 2004	15382051				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):683-8	An investigation of mammographic density and gene variants in healthy women.		202110	20916	2	2004	Our data suggest lower mammographic density for women carrying the COMT and CYP1A2 variant alleles than for women carrying the common alleles, though this is the opposite of what is commonly hypothesized from the enzyme function.	Cohort 328 healthy women of different ethnicities 										
120340	Y	menarche; menopause	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Gorai, I.  et al. 2003	12574216				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese		CDC GDPinfo	1586	Hs.438016			The Journal of clinical endocrinology and metabolism. 2003 Feb;88(2):799-803	Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women.		202110	20917	2	2003	The results suggest that the estrogen-metabolizing CYP17 genotype influences age at menarche in healthy postmenopausal Japanese women.	Cohort 317 postmenopausal Japanese women, aged 46 yr and over 										
120335		sex hormones	METABOLIC	MET	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Tworoger, S. S.  et al. 2004	14744739				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):94-101	Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women.		202110	20912	2	2004	This study provides further evidence that genetic variation may appreciably alter sex hormone concentrations in postmenopausal women not taking hormone therapy.	Cohort 171 postmenopausal women 										
120336		hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Dunning, A. M.  et al. 2004	15199113				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		England	CDC GDPinfo	1586	Hs.438016			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		202110	20913	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
120337		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Yin, P. H.  et al. 2004	15341023				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Taiwan	CDC GDPinfo	1586	Hs.438016			Cancer letters. 2004 Aug;212(2):195-201	Polymorphisms of estrogen-metabolizing genes and risk of hepatocellular carcinoma in Taiwan females		202110	20914	2	2004	These findings strongly suggest that estrogen play a critical role in female hepatocarcinogenesis.	Case hepatocellular carcinoma patients:Taiwan;Control:controls										
120333		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Huber, A.  et al. 2005	16260521				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		202110	20910	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
120334	Y	breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Hefler, L. A.  et al. 2004	15241822				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		202110	20911	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
120330	Y	bone density; height	METABOLIC	MET	Osteoporosis, Postmenopausal|Obesity|Genetic Predisposition to Disease|Thinness	10	10q24.3	CYP17A1	104580277	104587280		Tofteng, C. L.  et al. 2004	15129369				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Danish		CDC GDPinfo	1586	Hs.438016			Calcified tissue international. 2004 Aug;75(2):123-32	Two single nucleotide polymorphisms in the CYP17 and COMT Genes--relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy. The Danish Osteoporosis Prevention Study.		202110	20907	2	2004	In conclusion, the A2 allele of the CYP17 T(27)-C polymorphism is associated with reduced bone mass and bone size in lean perimenopausal women, whereas high BMI protects against this negative association. The COMT G(1947)-A polymorphism is not associated with bone parameters in this study.	Cohort 1,795 ecent postmenopausal women, assigned to either hormone replacement therapy (HRT) or no treatment and followed for 5 years 	hormone replacement therapy obesity									
120331		menopause	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Hefler, L. A.  et al. 2005	15774541				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDPinfo	1586	Hs.438016			Human reproduction (Oxford, England). 2005 May;20(5):1422-7	Estrogen-metabolizing gene polymorphisms and age at natural menopause in Caucasian women		202110	20908	2	2005	 We present the most comprehensive data on estrogen-metabolizing gene polymorphisms and timing of natural menopause to date. The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women.	Cohort 1,360 Caucasian women with natural menopause 										
120328	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Garner, E. I.  et al. 2002	12036914				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2002 Jun;62(11):3058-62	Polymorphisms of the estrogen-metabolizing genes CYP17 and catechol-O-methyltransferase and risk of epithelial ovarian cancer.		202110	20905	2	2002	Possession of the A2 variant of CYP17 appears to increase risk for ovarian cancer, whereas possession of the Val/Met variant of COMT decreases the risk for mucinous tumors. Confirmation in other populations and further exploration of potential pathogenetic mechanisms will be necessary.	Case ovarian cancer cases from a population-based study;Control:controls	oral contraceptive smoking (tobacco)									
120329	N	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Tan, W.  et al. 2003	14575568				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Chinese		CDC GDPinfo	1586	Hs.438016			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2003 Sep;25(5):453-6	[Relation between single nucleotide polymorphism in estrogen-metabolizing genes COMT, CYP17 and breast cancer risk among Chinese women]		202110	20906	2	2003	 The allele encoding for low activity COMT, but not CYP17, may be a genetic risk factor for breast cancer among Chinese women.	Control:150 frequency-matched controls;Case:250 Chinese breast cancer patients										
120326		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Ribeiro, M. L.  et al. 2002	11847524				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Brazil	CDC GDPinfo	1586	Hs.438016			Brazilian journal of medical and biological research. 2002 Feb;35(2):205-13	Allelic frequencies of six polymorphic markers for risk of prostate cancer.		202110	20903	2	2002	When both repeat lengths are considered jointly, this Brazilian population is remarkably different from the others. Further studies on prostate cancer patients need to be conducted to assess the significance of these markers in the Brazilian population.	Cohort 200 individuals from two cities in the State of Sao Paulo Brazil 										
120327		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Forrest, M. S.  et al. 2005	15711606				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Great Britain	CDC GDPinfo	1586	Hs.438016			Prostate cancer and prostatic diseases. 2005 ;8(1):95-102	Association between hormonal genetic polymorphisms and early-onset prostate cancer.		202110	20904	2	2005	These findings suggest that common polymorphisms in the AR and SRD5A2 genes may be associated with early-onset CaP in British men.Prostate Cancer and Prostatic Diseases advance online publication, 15	Case:288/50 UK males diagnosed with prostate cancer diagnosed at the age of 55 y or younger (n=288) and and additional group (n=50) of cases not selected for:age:UK;Control:700/76 population-based controls (n=700) and controls not selected by age (n=76)										
120324		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent	10	10q24.3	CYP17A1	104580277	104587280		Latil, A. G.  et al. 2001	11571725				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	French		CDC GDPinfo	1586	Hs.438016			Cancer. 2001 Sep;92(5):1130-7	Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways.		202110	20901	2	2001	 The association between the 171-bp allele of CYP19 and prostate carcinoma risk suggests that aromatase could be used as a new indicator for prostate carcinoma prevention in men of White French ethnogeographic origin. Conversely, it is possible that an individual carries both a high- and a low-risk marker (e.g., CYP17 A2 allele and V89L in SRD5A2) resulting in no overall difference in risk observed across the population. For these reasons, the development of a polygenic model, incorporating multiple loci from the individual genes may maximize the chance of identifying individuals with high-risk genotypes.	Control:156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort;Case:226 proatate cancer patients										
120325	Y	prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	10	10q24.3	CYP17A1	104580277	104587280		Azzouzi, A. R.  et al. 2002	12370109				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			European journal of endocrinology. 2002 Oct;147(4):479-84	Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate.		202110	20902	2	2002	 These results suggested that common variants of the CYP17 gene are associated with prostate enlargement and therefore may increase the risk of development of BPH in this population, while infrequent variants of the aromatase gene (CYP19) could be of a protective nature.	Cohort 195 French Caucasians 										
120322		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	10	10q24.3	CYP17A1	104580277	104587280		Tucci, S.  et al. 2001	11232039				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDPinfo	1586	Hs.438016			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):446-9	Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus		202110	16772	2	2001	In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. It remains to be determined if this susceptibility gene is the insulin receptor gene itself or a closely located gene. Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS.	Case:85 Caucasian polycystic ovarian syndrome patients;Control:87 age-matched Caucasian control women										
120323		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Guo, S. W.   2005	16244490				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Gynecologic and obstetric investigation. 2005 Oct;61(2):90-105	Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis.		202110	20900	2	2005												
120320		puberty onset	UNKNOWN	UNK	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Kadlubar, F. F.  et al. 2003	12692107	CYP3A4*1B			Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian	New York	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2003 Apr;12(4):327-31	The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer.		202110	16240	2	2003	CYP1B1, CYP3A4, and CYP3A5 rapid variants were more common in African-American than in Hispanic or Caucasian girls.	Cohort 137 healthy nine-year-old-girls from two pediatric clinics 										
120321		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Nam, R. K.  et al. 2003	14693733				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		202110	16246	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
120317		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Onland-Moret, N. C.  et al. 2005	15824149				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Netherlands	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):815-20	Cyp17, urinary sex steroid levels and breast cancer risk in postmenopausal women.		202110	15988	2	2005	In conclusion, this paper shows that women with low BMI and the A2A2 genotype had higher endogenous sex steroid levels compared with women with the A1A1 genotype. However, these increased sex steroid levels are not translated into an increased breast cancer risk in these women.	Case:335 incident postmenopausal breast cancer cases which occurred after follow-up of the entire cohort;Control:373 individuals randomly sampled from the cohort:Cohort:9,349 individuals from a large population based cohort, the DOM-cohort the Netherands	body mass									
120318		estrogen	UNKNOWN	UNK		10	10q24.3	CYP17A1	104580277	104587280		Small, C. M.  et al. 2005	15878919				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Human reproduction (Oxford, England). 2005 Aug;20(8):2162-7	CYP17 genotype predicts serum hormone levels among pre-menopausal women		202110	15989	2	2005	 The CYP17 T27C polymorphism may be a marker of endocrine function.	Cohort 164 pre-menopausal women 										
120319		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280			14714492				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Molekuliarnaia biologiia. 2003 Nov-Dec;37(6):975-82	[In Process Citation]		202110	15994	2	2003	Risk of BC was especially high in the presence of both factors (7.3% vs. 0%, P < 0.01). Allele (TTTA)8 and genotype A2/A2 were assumed to be risk factors of BC.	Control:119 healthy women;Case:123 breast cancer patients										
120315	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Lin, C. C.  et al. 2003	12954495			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Urologic oncology. 2003 Jul-Aug;21(4):262-5	CYP17 gene promoter allelic variant is not associated with prostate cancer.		202110	15986	2	2003	Although a possible interaction between CYP17 gene C/T polymorphism and SP-1 transcription factor has been reported in the literature, we did not find any evidence for this the difference among clinical staging, pathological grading, or responsiveness to hormonal therapy in prostate cancer.	Control:121 healthy male volunteers;Case:93 patients with prostate cancer										
120316	Y	spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	10	10q24.3	CYP17A1	104580277	104587280		Mori, K.  et al. 2004	15372520				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese		CDC GDPinfo	1586	Hs.438016			American journal of medical genetics Part A. 2004 Oct;130(2):169-71	Association of CYP17 with HLA-B27-negative seronegative spondyloarthropathy in Japanese males.		202110	15987	2	2004	The CYP17 SNP is associated with SNSA in HLA-B27-negative Japanese males.	Case:149 Japanese male seronegative spondyloarthropathy:patients;Control:380:controls										
120313	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Chang, B.  et al. 2001	11668516				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):354-9	Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer.		202110	15984	2	2001	In conclusion, our results suggest that the CYP17 gene or other genes in the region may increase the susceptibility to prostate cancer in men; however, the polymorphism in the 5' promoter region has a minor role if any in increasing prostate cancer susceptibility in our study sample.	Case:159 hereditary prostate cancer patients;Control:211 unaffected control subjects;Case:249 sporadic prostate cancer patients										
120314		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		McCann, S. E.  et al. 2002	12368392				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			The Journal of nutrition. 2002 Oct;132(10):3036-41	The risk of breast cancer associated with dietary lignans differs by CYP17 genotype in women		202110	15985	2	2002	Our results suggest that CYP17 genotype may be important in modifying the effect on breast cancer risk of exogenous estrogens, particularly for premenopausal women.	Case:207 women with primary, incident, histologically confirmed breast cancer;Control:288 controls frequency matched to cases by age and county of residence	diet									
120311	Y	testosterone; bone density; stature	OTHER	OTH	Osteoporosis	10	10q24.3	CYP17A1	104580277	104587280		Zmuda, J. M.  et al. 2001	11341336				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Journal of bone and mineral research. 2001 May;16(5):911-7	A common promotor variant in the cytochrome P450c17alpha (CYP17) gene is associated with bioavailability testosterone levels and bone size in men.		202110	15982	2	2001	These results suggest that allelic variation at the CYP17 locus may contribute to the genetic influence on stature and femoral size in men.	Cohort 333 white men aged 51-84 years (mean +/- SD; 66+/-7 years) 										
120312	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Kittles, R. A.  et al. 2001	11535545			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	African American		CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):943-7	Cyp17 promoter variant associated with prostate cancer aggressiveness in African Americans.		202110	15983	2	2001	Our results suggest that the C allele of the CYP17 polymorphism is significantly associated with increased prostate cancer risk and clinically advanced disease in African Americans.	Control:241 healthy male volunteers (Nigerian (n = 56), European-American (n = 74), and African-American (n:= 111));Case:71 African-American men affected with prostate cancer										
120308		bone density	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Yamada, Y.  et al. 2005	15953542				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese		CDC GDPinfo	1586	Hs.438016			Genomics. 2005 Jul;86(1):76-85	Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men.		202110	14773	2	2005	CYP17A1 and MTP are susceptibility loci for increased BMD in postmenopausal and premenopausal Japanese women, respectively, and that VLDLR constitutes such a locus in Japanese men.											
120309		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Feigelson, H. S.  et al. 2001	11212283				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2001 Jan;61(2):785-9	Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two importantcandidates		202110	15980	2	2001		Control:1508 randomly selected controls from a a multiethnic:cohort;Case:850 incident breast cancer cases from a a multiethnic:cohort	hormone replacement therapy									
120310	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		McKean-Cowdin, R.  et al. 2001	11221867				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2001 Feb;61(3):848-9	Risk of endometrial cancer and estrogen replacement therapy history by CYP17 genotype		202110	15981	2	2001	These preliminary findings suggest that CYP17 or other variants in estrogen biosynthesis or metabolism pathways may be potential markers of endometrial cancer susceptibility due to ERT.	Control:391 randomly selected controls from a multiethnic cohort in Hawaii and Los Angeles, California;Case:51 incident endometrial cancer cases from a multiethnic cohort in Hawaii and Los Angeles,:California	estrogen									
120305	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Chacko, P.  et al. 2004	15604994				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Indian	India	CDC GDPinfo	1586	Hs.438016			Breast cancer (Tokyo, Japan). 2004 ;11(4):380-8	CYP17 and SULT1A1 gene polymorphisms in Indian breast cancer.		202110	14114	2	2004	 These results suggest that both CYP17 and SULT1A1 genotypes could be important determinants of breast cancer risk in Indian women and may help in early identification of high risk subjects. Such genotype analysis resulting in a high-risk profile holds considerable promise for individualizing screening, diagnosis and therapeutic intervention in breast cancer.	Control:140 healthy age-matched controls;Case:140 breast cancer cases										
120306	Y	oral cancer	CANCER	CAN	Mouth Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Chen, W. C.  et al. 2005	15799583				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Chinese	China|Taiwan	CDC GDPinfo	1586	Hs.438016			Acta oto-laryngologica. 2005 Jan;125(1):96-9	CYP17 and tumor necrosis factor-alpha gene polymorphisms are associated with risk of oral cancer in Chinese patients in Taiwan.		202110	14360	2	2005	 Patients who carry the T/T homozygote of CYP17 C/T gene polymorphism may have a higher risk of developing oral cancer. OBJECTIVE: Cancer of the oral cavity is the most commonly seen malignancy in Taiwan, and its rising incidence poses a formidable challenge to oncologists. The CYP17 gene encodes P450c17alpha, an enzyme involved in the metabolism of steroid hormones. Tumor necrosis factor-alpha (TNF-alpha) is one of the cytokines produced by macrophages, and its function has been postulated to play a role in cancer formation. We investigated whether polymorphisms of CYP17 and TNF-alpha genes are associated with oral cancer. MATERIAL AND METHODS: Polymorphisms of CYP17 and TNF-alpha genes were detected by polymerase chain reaction-based restriction analysis in 137 patients with oral cancer and 102 normal controls. RESULTS: The results for the CYP17 gene revealed a significant difference between oral cancer patients and normal controls (p =0.0063), but there was no significant difference for the TNF-alpha gene (p =0.4753).	Control:102 normal controls;Case:137 oral cancer patients										
120302	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Antognelli, C.  et al. 2004	15538743				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			The Prostate. 2005 May;63(3):240-51	Association of CYP17, GSTP1, and PON1 polymorphisms with the risk of prostate cancer.		202110	10976	2	2004	 The three polymorphisms appear to be common genetic traits that are associated with an increased risk for PCa: the analysis of them all in each single case may be a predictable factor, particularly among groups exposed to PCa-related carcinogens.	Control:360 age-matched control patients with benign prostatic:hyperplasia;Case:384 patients with untreated prostate cancer										
120303	Y	urinary calculus	METABOLIC	MET	Urinary Calculi	10	10q24.3	CYP17A1	104580277	104587280		Chen, W. C.  et al. 2003	12719950				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Urological research. 2003 Jul;31(3):218-22	Vascular endothelial growth factor gene polymorphism is associated with calcium oxalate stone disease.		202110	11598	2	2003	We conclude that  the VEGF gene Bst U I polymorphism is a suitable genetic marker of urolithiasis.	Case:230 patients with calcium oxalate stone;Control:230 normal controls										
120299	N	menopause	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Kok, H. S.  et al. 2004	15539439				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Dutch		CDC GDPinfo	1586	Hs.438016			Human reproduction (Oxford, England). 2005 Feb;20(2):536-42	No association of estrogen receptor alpha and cytochrome P450c17alpha polymorphisms with age at menopause in a Dutch cohort.		202110	10404	2	2004	 No evidence was found for a relationship between common variants of the ERalpha gene and the CYP17 gene with age at natural menopause.	Cohort 358 Caucasian women with natural menopause 										
120300	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Hsieh, Y. Y.  et al. 2005	15749482				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Fertility and sterility. 2005 Mar;83(3):567-72	Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis.		202110	10407	2	2005	ERalpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.	Control:108 normal controls;Case:119 women with endometriosis										
120301	Y	intrauterine growth	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Yamada, H.  et al. 2004	14665706				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Molecular human reproduction. 2004 Jan;10(1):49-53	A polymorphism in the CYP17 gene and intrauterine fetal growth restriction.		202110	10963	2	2004	The polymorphism of CYP17 that encodes the cytochrome P450c17alpha enzyme might be associated with the pathophysiology underlying fetal growth restriction.	Cohort 134 women who experienced singleton deliveries beyond 24 weeks gestation 										
120296		liver function	OTHER	OTH		10	10q24.3	CYP17A1	104580277	104587280		Lang, T.  et al. 2001	11470993				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Pharmacogenetics. 2001 Jul;11(5):399-415	Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver		202110	9876	2	2001	These data demonstrate that the extensive interindividual variability of CYP2B6 expression and function is not only due to regulatory phenomena, but also caused by a common genetic polymorphism.	a large number of liver samples Cohort 215 subject, not otherwise described 										
120297	N	menarche	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Lai, J.  et al. 2001	11749050				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Molecular genetics and metabolism. 2001 Dec;74(4):449-57	CYP gene polymorphisms and early menarche.		202110	10003	2	2001	The polymorphic variants of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes are unlikely to influence age of menarche.	Cohort 583 nulliparous women between ages 17 and 35, of various ethnic backgrounds 										
120293		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	10	10q24.3	CYP17A1	104580277	104587280		Letonja, M.  et al. 2005	16045239				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDPinfo	1586	Hs.438016			Folia biologica. 2005 ;51(3):76-81	Are the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene genetic markers for premature coronary artery disease in Caucasians?		202110	9769	2	2005												
120294		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Han, D. F.  et al. 2005	16232327				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Chinese medical journal. 2005 Sep;118(18):1507-16	Polymorphisms of estrogen-metabolizing genes and breast cancer risk: a multigenic study.		202110	9772	2	2005	 This study supports the hypothesis that breast cancer can be initiated by estrogen exposure and that estrogen metabolizing genes are involved in this mechanism. This multigenic model is useful for identifying individuals who are at higher risks of breast cancer.											
120295		hot flashes	OTHER	OTH	Genetic Predisposition to Disease|Hot Flashes	10	10q24.3	CYP17A1	104580277	104587280			16319265				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Obstetrics and gynecology. 2005 Dec;106(6):1372-81	Cytochrome Gene Polymorphisms, Serum Estrogens, and Hot Flushes in Midlife Women		202110	9843	2	2005	 These data suggest that a CYP1B1 polymorphism may be associated with severe and persistent hot flushes, independent of E2 and estrone levels.		estrogen									
120291	Y	osteoporosis, postmenopausal; bone density; hormone disturbance	METABOLIC	MET	Osteoporosis, Postmenopausal	10	10q24.3	CYP17A1	104580277	104587280		Somner, J.  et al. 2004	14715870				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):344-51	Polymorphisms in the P450 c17 (17-Hydroxylase/17,20-Lyase) and P450 c19 (Aromatase) Genes: Association with Serum SexSteroid Concentrations and Bone Mineral Density in Postmenopausal Women		202110	9756	2	2004	In conclusion, both CYP 17 and CYP 19 are candidate genes for osteoporosis in postmenopausal women.	Control:116:controls;Case:136 postmenopausal osteoporotic women										
120292		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Berstein, L. M.  et al. 2004	15072828				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer letters. 2004 Apr;207(2):191-6	CYP17 and CYP19 genetic polymorphisms in endometrial cancer: association with intratumoralaromatase activity		202110	9760	2	2004	Thus, specific set of genetic polymorphisms (carrying of CYP17 A1 allele and combination of longest A6 or A7 CYP19 alleles) may predispose to the induction of higher rate of local estrogen biosynthesis in malignant endometrium, that in its turn may support growth of the latter. Further studies are warranted to connect revealed regularities with the type I or II of EC.	Control:116/188 non-affected women primarily of postmenopausal age tested for polymorphisms in CYP19 (n=116) and CYP17:(n=188) gene;Case:136/165 endometrial cancer patients tested for polymorphisms in CYP19 (n=136) and CYP17 (n=165):gene										
120288	Y	sex hormones	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Wang, J. Q.  et al. 2005	15999490				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Zhonghua nan ke xue. 2005 Jun;11(6):442-4	[Association between polymorphism of CYP17 gene and serum hormone concentrations in aged men]		202110	9746	2	2005	 A2 allele does not increase sex hormone levels in aged men, but the T/E, ratio was higher in the > 66.7 group than in the < 66.7 group. This may be closely associated with the mechanism of benign prostate hyperplasia and prostate cancer in aged men.											
120289	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Einarsdottir, K.  et al. 2005	16280037			5'promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Breast cancer research. 2005 ;7(6):R890-6	CYP17 gene polymorphism in relation to breast cancer risk: a case-control study.	rs743572	609300	9747	2	2005	 It is unlikely that CYP17 c.1-34T>C has a role in breast cancer etiology, overall or in combination with established non-genetic breast cancer risk factors.		hormone replacement therapy, menarche, menopause, diabetes, parity, first birth, BMI, family history									
120290		biliary duct stones; biliary tract cancer; gallbladder cancer; gallstones	CANCER	CAN	Biliary Tract Neoplasms|Gallstones|Obesity|Diabetes Complications	10	10q24.3	CYP17A1	104580277	104587280			16381022				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			International journal of cancer Journal international du cancer. 2005	CYP17 MspA1 polymorphism and risk of biliary tract cancers and gallstones: A population-based study inShanghai, China		202110	9748	2	2005			body mass diabetes parity									
120285	Y	lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Skibola, C. F.  et al. 2005	15916684				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			British journal of haematology. 2005 Jun;129(5):618-21	Polymorphisms in cytochrome P450 17A1 and risk of non-Hodgkin lymphoma.		202110	9743	2	2005	Associations of CYP17A1 polymorphisms with increased risk of NHL suggest a role for oestrogen in lymphomagenesis.	Case non-Hodgkin lymphoma cases;Control:controls										
120286		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Verla-Tebit, E.  et al. 2005	15987450			5' promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	German	Germany	CDC GDPinfo	1586	Hs.438016			Breast cancer research. 2005 ;7(4):R455-64	CYP17 5'-UTR MspA1 polymorphism and the risk of premenopausal breast cancer in a German population-based case-control study.		202110	9744	2	2005	 Our results do not indicate a major influence of CYP17 MspA1 polymorphism on the risk of premenopausal breast cancer, but suggest that it may have an impact on breast cancer risk among nulliparous women. The finding, however, needs to be confirmed in further studies.											
120282		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Shin, M. H.  et al. 2005	15761247				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Korean	Korea	CDC GDPinfo	1586	Hs.438016			Experimental & molecular medicine. 2005 Feb;37(1):7-Nov	Genetic polymorphism of CYP17 and breast cancer risk in Korean women.		202110	9740	2	2005	Our results suggest that genetic polymorphism in 5'-untranslated region of CYP17 might play a role in breast cancer development in Korean women among younger women aged less than 50 or leaner women with body mass index less than 22 kg/m(2).	Control:337:controls;Case:462 Korean incident breast cancer cases:Seoul:1994 - 2001										
120283	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Asghar, T.  et al. 2005	15823822				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese	Japan|Great Britain	CDC GDPinfo	1586	Hs.438016			Gynecological endocrinology. 2005 Feb;20(2):59-63	Lack of association between endometriosis and the CYP17 MspA1 polymorphism in UK and Japanese populations.		202110	9741	2	2005												
120284	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Vesovic, Z.  et al. 2005	15865082			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	German	Germany	CDC GDPinfo	1586	Hs.438016			Anticancer research. 2005 Mar-Apr;25(2B):1303-7	Role of a CYP17 promoter polymorphism for familial prostate cancer risk in Germany		202110	9742	2	2005	 Our results do not suggest a role of CYP17 as a high-risk susceptibility gene for familial prostate cancer, nor as a modifier for the disease risk in the European population.	Case North American prostate cancer cases;Control:controls										
120279	N	bone mass	METABOLIC	MET	Osteoporosis	10	10q24.3	CYP17A1	104580277	104587280		Zhang, Z. L.  et al. 2004	15663233				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Dec;26(6):687-91	[Relationship of msp AI polymorphism in cytochrome P450c 17alpha gene with bone mass and bone size in Shanghai men of Han nationality]		202110	9737	2	2004	 Msp AI polymorphism of CYP17 gene is not a genetic factor that influence the variation of bone mass and bone size in Shanghai men of Han nationality.	Control:423 healthy ment;Case:73 unrealted Chinese Han men with osteoporosis:Shanghai										
120280	N	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	10	10q24.3	CYP17A1	104580277	104587280		Tigli, H.  et al. 2003	15686129				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Turkey	CDC GDPinfo	1586	Hs.438016			Research communications in molecular pathology and pharmacology. 2003 ;113-114:307-14	Cyp17 genetic polymorphism in prostate cancer and benign prostatic hyperplasia.		202110	9738	2	2003	Our data provide no evidence for an association between prostate cancer risk and the CYP17 gene polymorphism.	Case prostate cancer;Control controls and benign prostatic hyperplasia patients										
120276	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	10	10q24.3	CYP17A1	104580277	104587280		Kahsar-Miller, M.  et al. 2004	15482786				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Southeastern United States	CDC GDPinfo	1586	Hs.438016			Fertility and sterility. 2004 Oct;82(4):973-5	Role of a CYP17 polymorphism in the regulation of circulating dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome		202110	9734	2	2004	It does not appear that this common variant of CYP17, a T to C substitution in the 5' promoter region, plays a significant role in the adrenal androgen excess of PCOS.	Control:161 matched controls;Case:259 consecutive unselected white patients with the polycystic ovary syndrome										
120277		endometriosis	REPRODUCTION	REP	Endometriosis	10	10q24.3	CYP17A1	104580277	104587280		Hsieh, Y. Y.  et al. 2004	15536258			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Journal of genetics. 2004 Aug;83(2):189-92	Cytochrome P450c17alpha 5'-untranslated region *T/C polymorphism in endometriosis.		202110	9735	2	2004	Despite the CYP17* T allele appearing to be associated with a trend of increased risk of endometriosis, CYP17 5'-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility.	Case:119 women with severe endometriosis;Control:128 women without endometriosis										
120273		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	10	10q24.3	CYP17A1	104580277	104587280		Lo, S. F.  et al. 2004	15235815				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Chinese	Taiwan	CDC GDPinfo	1586	Hs.438016			Rheumatology international. 2005 Oct;25(8):580-4	Association of CYP17 gene polymorphism and rheumatoid arthritis in Chinese patients in central Taiwan.		202110	9731	2	2004	This study suggests that the A2 allele may significantly decrease the overall risk of developing RA. In women, the protective effect of A2 mainly affects the older age group. In men, the clinical severity of RA may decrease in patients with the A2/A2 genotype.	Case:146/47 female (n=146) and male (n=47) rheumatoid arthritis:patients;Control:42/59 female (n=42) and male (n=59) controls										
120274		hormone levels	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Sharp, L.  et al. 2004	15466495				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			American journal of epidemiology. 2004 Oct;160(8):729-40	CYP17 Gene Polymorphisms: Prevalence andAssociations with Hormone Levels and Related Factors. A HuGE Review		202110	9732	2	2004	Review article											
120275		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Kakinuma, H.  et al. 2004	15477877				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Japan	CDC GDPinfo	1586	Hs.438016			Prostate cancer and prostatic diseases. 2004 ;7(4):333-7	Serum sex steroid hormone levels and polymorphisms of CYP17 and SRD5A2: implication for prostatecancer risk.		202110	9733	2	2004	The linear trends across the CYP17 genotypes in serum-free testosterone and androstenedione levels were found, suggesting the importance of the polymorphism of CYP17 in determining the circulating androgen levels.	Cohort 164 Japanese males 										
120270	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Sata, F.  et al. 2003	14561815				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Japan	CDC GDPinfo	1586	Hs.438016			Molecular human reproduction. 2003 Nov;9(11):725-8	A polymorphism in the CYP17 gene relates to the risk of recurrent pregnancy loss.		202110	9726	2	2003	These results suggest that possession of the A2 variant of CYP17 may predispose to an increased risk of RPL with a gene dosage effect.	Case:117 women with recurrent pregnancy loss;Control:164:controls										
120272	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Dos Santos, A.  et al. 2002	15195127			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Brazil	CDC GDPinfo	1586	Hs.438016			Prostate cancer and prostatic diseases. 2002 ;5(1):28-31	No association of the 5(') promoter region polymorphism of CYP17 gene with prostate cancer risk		202110	9730	2	2002	Our results provide no evidence for an association between prostate cancer risk and CYP17 T/C polymorphism.	Control:200 healthy individuals;Case:92 prostate cancer patients:Brazil										
120268	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Cui, J. S.  et al. 2003	12652520				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Genetic epidemiology. 2003 Apr;24(3):161-72	Regressive logistic and proportional hazards disease models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast cancer.		202110	9723	2	2003	This aYalytical approach is well-suited to the data that arise from populatioY-based case-coYtrol-family studies, iY which cases, coYtrols aYd relatives are studied, aYd geYotype is measured for some but Yot all subjects.	Case:1,447 breast cancer cases from the Australian Breast Cancer Family Study and 213 relatives of cases:probands;Control:787:controls										
120269	N	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Madigan, M. P.  et al. 2003	12949806				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		China	CDC GDPinfo	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2003 Nov;107(2):271-5	CYP17 polymorphisms in relation to risks of prostate cancer and benign prostatic hyperplasia: apopulation-based study in China.		202110	9724	2	2003	We found no associations of CYP17 genotypes with serum sex hormone levels or other biomarkers after correction for multiple comparisons. Large population-based studies are needed to clarify whether CYP17 plays a role in prostate cancer risk and whether genotype effects vary in different racial/ethnic and other subgroups.	Case:174/182 prostate cancer cases (n=174) and benign prostatic:hyperplasia (n=182);Control:274 population controls										
120266		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Ambrosone, C. B.  et al. 2003	12631398				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Breast cancer research. 2003 ;5(2):R45-51	CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors.		202110	9721	2	2003	 These results suggest that the effects of factors that may alter breast cancer risk through a hormonal mechanism may be less important among premenopausal women with putative higher lifetime exposures to circulating estrogens related to the CYP17 A2 allele.	Case premenopausal and postmenopausal European-American breast cancer cases western New York;Control controls frequency matched by age and by county of:residence	oral contraceptive pregnancy									
120267	N	breast cancer; breast cancer, male	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male	10	10q24.3	CYP17A1	104580277	104587280		Gudmundsdottir, K.  et al. 2003	12644832			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			British journal of cancer. 2003 Mar;88(6):933-6	CYP17 promoter polymorphism and breast cancer risk in males and females in relation to BRCA2 status.		202110	9722	2	2003	Our findings do not indicate a role for the CYP17 T-C polymorphism in female breast cancer, but a role in male carriers of a BRCA2 mutation could not be excluded because of the small sample size.	Control:309/395 male (n=309) and female (n=395) controls;Case:39/523 male (n=39) and female (n=523) breast cancer cases										
120263		endometrial cancer; hyperinsulinemia	CANCER	CAN	Endometrial Neoplasms|Hyperinsulinism	10	10q24.3	CYP17A1	104580277	104587280		Berstein, L. M.  et al. 2002	12530262				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Voprosy onkologii. 2002 ;48(6):673-8	[Genetic polymorphism of steroid 17 alpha-hydroxylase/17,20-lyase (CYP17) and hyperinsulinemia in endometrial carcinoma]		202110	9718	2	2002	Hence, CYP17 polymorphism which is represented by the "normal" A1/A1 genotype might be a factor of risk for endometrial carcinoma. Since this genetic variety may develop through an unconventional (nonsteroid) pathway, taking relevant preventive measures in high-risk groups should be recommended.	Case:114 endometrial carcinoma patients;Control:182 healthy women										
120264	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Ntais, C.  et al. 2003	12582021				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Africa|Asia|Europe	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2003 Feb;12(2):120-6	Association of the CYP17 Gene Polymorphism with the Risk of Prostate Cancer: A Meta-Analysis		202110	9719	2	2003	The meta-analysis suggests that the CYP17 polymorphism is unlikely to increase considerably the risk of sporadic prostate cancer on a wide population basis, especially in subjects of European descent. Previously reported associations may reflect publication bias, although it is also possible that the polymorphism may be important in subjects of African descent.	Case:2404 patients with prostate cancer from 10 studies;Control:2755:controls										
120260	N	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Susceptibility	10	10q24.3	CYP17A1	104580277	104587280		Ye, Z.  et al. 2002	11880540				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Mutagenesis. 2002 Mar;17(2):119-26	The CYP17 MspA1 polymorphism and breast cancer risk: a meta-analysis.		202110	9714	2	2002	Our results suggest that CYP17 MspA1 polymorphism may be at best a weak modifier of breast cancer risk but is not a significant independent risk factor.	Case:4227 breast cancer cases;Control:4730 individual controls										
120261	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Stanford, J. L.  et al. 2002	11895872				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Washington	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2002 Mar;11(3):243-7	A polymorphism in the CYP17 gene and risk of prostate cancer.		202110	9715	2	2002	These results suggest that the CYP17 A2/A2 genotype predicts susceptibility to prostate cancer in white men with a family history of the disease. It is also possible that CYP17 interacts with other genes that influence risk of familial prostate cancer.	Control:538 sontrols of similar age without the disease;Case:590 incident prostate cancer cases from a large population-based study										
120262	N	endometrial cancer	CANCER	CAN	Breast Neoplasms|Endometrial Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Berstein, L. M.  et al. 2002	11911969				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer letters. 2002 Jun;180(1):47-53	CYP17 genetic polymorphism in endometrial cancer:are only steroids involved?		202110	9716	2	2002	We conclude that IL-1A genotype is not a major risk factor for LOAD.	Case:114 endometrial cancer patients;Control:182 healthy women										
120257	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Haiman, C. A.  et al. 2001	11358812				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2001 May;61(10):3955-60	A polymorphism in CYP17 and endometrial cancer risk.		202110	9711	2	2001	These data suggest that the A2 allele of CYP17 decreases endometrial cancer risk, but has only weak effects on endogenous estrogen levels among postmenopausal women.	Case:184 endometrial cancer patients nested within the Nurses' Health Study cohort;Control:554 controls nested within the Nurses Health Study:Cohort										
120259		prostate cancer; steroid hormones	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Haiman, C. A.  et al. 2001	11440959				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2001 Jul;10(7):743-8	The relationship between a polymorphism in CYP17 with plasma hormone levels and prostate cancer.		202110	9713	2	2001	CYP17 genotype may possibly confer a small increased susceptibility to prostate cancer but is not a strong predictor of endogenous steroid hormone levels in men.	Case:590 prostate cancer patients nested within the Physicians' Health Study cohort;Control:780 controls nested within the Physicians' Health Study:cohort										
120255		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Mitrunen, K.  et al. 2000	11142420				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Finland	CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2000 Dec;9(12):1343-8	Steroid metabolism gene CYP17 polymorphism and the development of breast cancer.		202110	9709	2	2000	Because these findings (a tendency of inverse association was found for premenopausal women carrying the A2 allele containing genotypes and a protective effect of later age at menarche (> or =13 years) was mainly limited to women with A1/A1 genotype and a remarkably lower risk for premenopausal women with at least one child (odds ratio, 0.22; 95% CI, 0.07-0.62) to be mainly attributable to the A1/A1 genotype) are based on relatively small numbers in stratified analysis, they should, however, be interpreted with caution before being confirmed in future studies.	Control:482 population controls, all of homogenous Finnish:origin;Case:483 incident breast cancer patients, all of homogenous Finnish origin										
120256	N	androgen levels	METABOLIC	MET	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Allen, N. E.  et al. 2001	11303586				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):185-9	The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men.		202110	9710	2	2001	These results suggest that the CYP17 MspA1 I polymorphism is not associated with testosterone concentrations and that the SRD5A2 V89L polymorphism is not a strong determinant of A-diol-g concentration in Caucasian men.	Cohort 621 men Britain 										
120252		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Spurdle, A. B.  et al. 2000	11036113			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Australian	Australia	CDC GDPinfo	1586	Hs.438016			Journal of the National Cancer Institute. 2000 Oct;92(20):1674-81	CYP17 promoter polymorphism and breast cancer in Australian women under age forty years.		202110	9706	2	2000	 The CC genotype may modify the effect of other familial risk factors for early-onset breast cancer.	Control:284/91 population-sampled control subjects (n=284) and relatives of case subjects (n=91);Case:369 cases subjects under 40 years of age at diagnosis of a first primary breast cancer										
120254		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Miyoshi, Y.  et al. 2000	11094312				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese	Japan	CDC GDPinfo	1586	Hs.438016			Eur J Cancer. 2000 Dec;36(18):2375-9	Genetic polymorphism in CYP17 and breast cancer risk in japanese women		202110	9708	2	2000	These results suggest that CYP17 polymorphism(1931T/C) would be useful in the selection of Japanese women at a high risk for developing breast cancer at the age of >/=55 years.	Case not defined in abstract;Control not defined in abstract										
120249	Y	Bone Size	OTHER	OTH	Osteoporosis	10	10q24.3	CYP17A1	104583250	104587161		Zmunda JM 2001	11341336	T-->C substitution at -34bp			cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094106	Caucasian		TJB	1586	Hs.438016			Journal of bone and mineral research. 2001 May;16(			202110	1698	1	2001												
120250	N	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104583250	104587161	n	Dunning AM et al. 1998	9667690				cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094106			KGB	1586	Hs.438016			British journal of cancer. 1998 Jun;77(11):2045-7	No association between a polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer.		609300	1699	1	1998	We conclude that  these alleles do not significantly alter breast cancer risk in the English population.											
120251	Y	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17	104583250	104587161		Wu AH 2003	12584742	high risk allele CYP17 A2A2			cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094106	individuals from the Singapore Chinese Health Study Cohort	Singapore	KEW	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7			202110	1700	1	2003		Case:188; Control:671										
120246		systemic lupus erythematosus	IMMUNE	IMM	Adrenal Hyperplasia, Congenital|Lupus Erythematosus, Systemic	10	10q24.3	CYP17A1	104580277	104587280		Sullivan KE 1998	9588749				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			Y Wang	1586	Hs.438016			Arthritis and rheumatism. 1998 May;41(5):940-1	The polymorphic CYP17 allele is not found with increased frequency in systemic lupus erythematosus.		202110	1695	1	1998												
120247		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Cicek MS 2004	14991867				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			The Prostate. 2004 Apr;59(1):69-76	Association of prostate cancer risk and aggressiveness to androgen pathway genes: SRD5A2, CYP17, and the AR.		202110	1696	1	2004	 These findings suggest that the SRD5A2 V89L variant may influence risk of developing prostate cancer, especially among men with a younger age of diagnosis or more aggressive disease.											
120248	Y	serum estrogen and progesterone concentrations	OTHER	OTH		10	10q24.3	CYP17A1	104580277	104587280		Feigelson HS et al. 1998	9485002				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Cancer research. 1998 Feb;58(4):585-7	Cytochrome P450c17alpha gene (CYP17) polymorphism is associated with serum estrogen and progesterone concentrations.		202110	1697	1	1998												
120243	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Neoplasms, Hormone-Dependent|Cell Transformation, Neoplastic|Prostatic Hyperplasia|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Gsur A et al. 2000	10897051			5'promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		KGB	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2000 Aug;87(3):434-7	A polymorphism in the CYP17 gene is associated with prostate cancer risk.		202110	1692	1	2000		Case:63; Control:126										
120244	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280	n	Lin CC 2003	12954495			5'promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Urologic oncology. 2003 Jul-Aug;21(4):262-5	CYP17 gene promoter allelic variant is not associated with prostate cancer.		202110	1693	1	2003	Although a possible interaction between CYP17 gene C/T polymorphism and SP-1 transcription factor has been reported in the literature, we did not find any evidence for this the difference among clinical staging, pathological grading, or responsiveness to hormonal therapy in prostate cancer.	Control:121 healthy male volunteers;Case:93 patients with prostate cancer										
120245	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	10	10q24.3	CYP17A1	104580277	104587280		Somner J 2004	14715870				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):344-51	Polymorphisms in the P450 c17 (17-hydroxylase/17,20-Lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women.		202110	1694	1	2004	In conclusion, both CYP 17 and CYP 19 are candidate genes for osteoporosis in postmenopausal women.	Control:116:controls;Case:136 postmenopausal osteoporotic women										
120240	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280	0.04	Wadelius M et al. 1999	10591544			5'promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		KGB	1586	Hs.438016			Pharmacogenetics. 1999 Oct;9(5):635-9	Prostate cancer associated with CYP17 genotype.		202110	1689	1	1999		Case:178; Control:160										
120241	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Helzlsouer KJ et al. 1998	9796641				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Maryland	KGB	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 1998 Oct;7(10):945-9	Association between CYP17 polymorphisms and the development of breast cancer.		202110	1690	1	1998												
120242	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Kittles RA et al. 2001	11535545			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):943-7	Cyp17 promoter variant associated with prostate cancer aggressiveness in African Americans.		202110	1691	1	2001	Our results suggest that the C allele of the CYP17 polymorphism is significantly associated with increased prostate cancer risk and clinically advanced disease in African Americans.	Control:241 healthy male volunteers (Nigerian (n = 56), European-American (n = 74), and African-American (n:= 111));Case:71 African-American men affected with prostate cancer										
120237	Y	male breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male	10	10q24.3	CYP17A1	104580277	104587280		Young IE et al. 1999	10487625				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			British journal of cancer. 1999 Sep;81(1):141-3	A polymorphism in the CYP17 gene is associated with male breast cancer.		202110	1686	1	1999												
120238	Y	endometriosis	REPRODUCTION	REP	Leiomyomatosis|Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Kado N et al. 2002	11925378				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese	Japan	KGB	1586	Hs.438016			Human reproduction (Oxford, England). 2002 Apr;17(4):897-902	Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women.		202110	1687	1	2002	 The results suggest that the 3 bp I/D polymorphism of the CYP19 gene may be weakly associated with the susceptibility of endometriosis in a Japanese population.											
120239	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Chang B et al. 2001	11668516				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):354-9	Linkage and association of CYP17 gene in hereditary and sporadic prostate cancer.		202110	1688	1	2001	In conclusion, our results suggest that the CYP17 gene or other genes in the region may increase the susceptibility to prostate cancer in men; however, the polymorphism in the 5' promoter region has a minor role if any in increasing prostate cancer susceptibility in our study sample.	Case:159 hereditary prostate cancer patients;Control:211 unaffected control subjects;Case:249 sporadic prostate cancer patients										
120234	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Habuchi T et al. 2000	11059764				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Cancer research. 2000 Oct;60(20):5710-3	Increased risk of prostate cancer and benign prostatic hyperplasia associated with a CYP17 gene polymorphism with a gene dosage effect.		202110	1683	1	2000	the A1 allele of the CYP17 polymorphism is associated with an increased risk of prostate cancer and BPH, with a gene dosage effect. However, the CYP17 genotype does not seem to influence the disease status in prostate cancer.	Control:131 male controls;Case:252/202 252 prostate cancer patients,202 BPH patients										
120235	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Rheumatoid Nodule	10	10q24.3	CYP17A1	104580277	104587280		Huang J et al. 1999	10609072				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Clinical and experimental rheumatology. 1999 Nov-Dec;17(6):721-4	Possible association of CYP17 gene polymorphisms with the onset of rheumatoid arthritis.		202110	1684	1	1999	 The RFLPs of the CYP17 gene may constitute a disease modifying factor through sex hormone production.											
120236	Y	Polycystic ovaries and premature male pattern baldness	METABOLIC	MET	Polycystic Ovary Syndrome|Alopecia	10	10q24.3	CYP17A1	104580277	104587280		Carey AH et al. 1994	7849715				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Human molecular genetics. 1994 Oct;3(10):1873-6	Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.		202110	1685	1	1994												
120231	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis	10	10q24.3	CYP17A1	104580277	104587280		Bergman-Jungestrom M et al. 1999	10404084				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Sweden	KGB	1586	Hs.438016			International journal of cancer. Journal international du cancer. 1999 Aug;84(4):350-3	Association between CYP17 gene polymorphism and risk of breast cancer in young women.		202110	1680	1	1999												
120232	Y	serum androgen concentrations	METABOLIC	MET	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Allen NE et al. 2001	11303586				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):185-9	The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men.		202110	1681	1	2001	These results suggest that the CYP17 MspA1 I polymorphism is not associated with testosterone concentrations and that the SRD5A2 V89L polymorphism is not a strong determinant of A-diol-g concentration in Caucasian men.	Cohort 621 men Britain										
120233	N	serum testosterone levels	OTHER	OTH	Polycystic Ovary Syndrome	10	10q24.3	CYP17A1	104580277	104587280	n	Yanagi H et al. 1996	8923880				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			KGB	1586	Hs.438016			The Journal of clinical endocrinology and metabolism. 1996 Nov;81(11):4174	5' polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries.		202110	1682	1	1996												
120228		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	8	8q21-q22	CYP11B2	143988976	143996261		Matayoshi, T.  et al. 2004	15824464				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		124080	28216	2	2004			thiazide diuretics									
120229		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	8	8q21-q22	CYP11B2	143988976	143996261		Navarro-Lopez, F.   2002	11975906				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		124080	28280	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
120230		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Liljedahl, U.  et al. 2003	12544508				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		124080	28407	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
120226		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	8	8q21-q22	CYP11B2	143988976	143996261		Hashizume, K.  et al. 2005	15914614				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	CDC GDPinfo	1585	Hs.632054			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		124080	27397	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
120227		atherosclerosis, coronary	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Ortlepp, J. R.  et al. 2002	12446192				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		124080	27398	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
120224		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Kosachunhanun, N.  et al. 2003	14530292				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		124080	26816	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
120225		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Kajander, O. A.  et al. 2001	11696658				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		124080	27396	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
120222		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Poch, E.  et al. 2001	11711524				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		124080	25904	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
120223		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Ortlepp, J. rR.  et al. 2001	11696688				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Coronary artery disease. 2001 Sep;12(6):493-7	A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts		124080	25905	2	2001	 The CMA allele G is a genetic risk factor for atherosclerosis in venous coronary artery bypass grafts. Its importance has to be shown in further studies. Other polymorphisms of the renin-angiotensin-aldosterone system do not seem to play a role in bypass degeneration.	Cohort 101 patients who had follow-up coronary angiography due to symptoms 88 +/- 52 months after coronary artery bypass graft surgery 										
120220		kidney failure, chronic	RENAL	REN	Kidney Failure, Acute|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Fabris, B.  et al. 2005	15662219				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		Italy	CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2005 Feb;23(2):309-16	Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.		124080	25902	2	2005	 Our findings suggest that in patients with essential hypertension an unfavorable genetic pattern of RAAS may contribute to the increased risk for the development of renal failure.	Control:172 hypertensive patients without renal insufficiency matched for age and hypertension duration to within 2 years;Case:86 hypertensive patients with renal insufficiency										
120221	Y	renal allograft function	UNKNOWN	UNK	Disease Progression	8	8q21-q22	CYP11B2	143988976	143996261		Nicod, J.  et al. 2002	11923700				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Transplantation. 2002 Mar;73(6):960-5	Recipient RAS gene variants and renal allograft function.		124080	25903	2	2002	 The rate of decline in renal allograft function is strongly associated with the CYP11B2 but not AGT, ACE, or AGT1R genotypes. This finding suggests that certain genetic factors related to the RAS are important determinants of long-term renal allograft function.	Cohort 223 first-allograft recipients 										
120218		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Disease Progression	8	8q21-q22	CYP11B2	143988976	143996261		Coll, E.  et al. 2003	12832734				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of nephrology. 2003 May-Jun;16(3):357-64	Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency.		124080	25900	2	2003	 These results indicate that susceptibility to faster progression to ESRD is associated with the AT1R A1166C polymorphism. This association remains significant after adjustment for relevant covariates, highlighting the importance of analyzing genetic risk factors in the context of clinical and biochemical variables.	Cohort 104 end-stage renal disease patients 										
120219		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Castellano, M.  et al. 2003	14508191				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Italian	Italy	CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2003 Oct;21(10):1853-60	Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPERProject.		124080	25901	2	2003	 Our results suggest that some allelic variants of RAAS genes carry a small but identifiable risk of developing arterial hypertension.	Case:1850 hypertensive subjects:Italy;Control:611 normotensive subjects										
120216		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Kurland, L.  et al. 2002	11910301				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		Sweden	CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2002 Apr;20(4):657-63	Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from theSwedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (		124080	25898	2	2002	The angiotensinogen T174M and M235T and the AT1-receptor A1166C polymorphisms were related to the change in LVH during antihypertensive treatment with an AT1-receptor antagonist; of these angiotensinogen T174M was the most powerful. This highlights the role of the RAAS for left ventricular hypertrophy and the potential of pharmacogenetics as a tool for guidance of antihypertensive therapy.	Cohort Patients with essential hypertension and echocardiographically diagnosed LVH 	atenolol irbesartan									
120217		blood pressure, arterial; atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Kikuya, M.  et al. 2003	12627873				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	CDC GDPinfo	1585	Hs.632054			Hypertension research. 2003 Feb;26(2):141-5	A/C1166 gene polymorphism of the angiotensin II type 1 receptor (AT1) and ambulatory blood pressure: the Ohasama Study.		124080	25899	2	2003	These results indicated that AT1 A/C1166 polymorphism was not associated with any clinical parameters associated with hypertension or atherosclerosis in the Japanese population.	Cohort 802 Japanese subjects aged 40 and over from the Ohasama Study 										
120214		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Tiago, A. D.  et al. 2001	11447495				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	South African	South Africa	CDC GDPinfo	1585	Hs.632054			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		124080	25896	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
120215		aortic stiffness	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Lajemi, M.  et al. 2001	11288810				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2001 Mar;19(3):407-13	Angiotensin II type 1 receptor-153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects		124080	25897	2	2001	 AT1 receptor genotypes could influence arterial ageing in hypertensive subjects. These results also show that the association between genotypes and arterial stiffness may manifest itself later in life.	Cohort 441 18-74 year old untreated hypertensive subjects European origin 										
120212	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Henderson, S. O.  et al. 2004	15545843				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	African American		CDC GDPinfo	1585	Hs.632054			The American journal of the medical sciences. 2004 Nov;328(5):266-73	Multiple Polymorphisms in the renin- angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort.		124080	24201	2	2004	 These data suggest that the (-535)T allele of AGTR1 and (-344)T allele of CYP11B2 may increase hypertension risk among African Americans but not among Latinos. Characterization of the linkage disequilibrium and haplotype patterns in the RAAS pathway genes will be crucial to understanding differences in hypertension susceptibility in these ethnic populations.	Cohort African American and Latino members of the Multiethnic Cohort Study 										
120213		blood pressure	CARDIOVASCULAR	CARD	Hyperaldosteronism	8	8q21-q22	CYP11B2	143988976	143996261		Mulatero, P.  et al. 2002	12107246				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3337-43	Blood pressure in patients with primary aldosteronism is influenced by bradykinin B(2) receptor and alpha-adducin gene polymorphisms.		124080	24202	2	2002	These data suggest that genetic variants of alpha-adducin and the bradykinin B(2)-R influence the blood pressure levels in patients with primary aldosteronism.	Cohort 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism) 										
120210		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Porto, P. I.  et al. 2003	12611423				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Clinical and experimental hypertension (New York, NY :  1993). 2003 Feb;25(2):117-30	Renin-angiotensin-aldosterone system loci and multilocus interactions in young-onset essential hypertension.		124080	24199	2	2003	 In addition to the angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) gene variants, gene-gene interactions may be important causative factors in a complex disease such as young-onset essential hypertension.	Control:121 age-matched normotensives, recruited from a high-school student population of 934 interviewed:individuals;Case:54 adolescents with hypertension, recruited from a high-school student population of 934 interviewed:individuals										
120211		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Tiago, A. D.  et al. 2003	14643573				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		South Africa	CDC GDPinfo	1585	Hs.632054			American journal of hypertension. 2003 Dec;16(12):1006-10	Impact of renin-angiotensin-aldosterone system gene variants on the severity of hypertension in patients with newly diagnosed hypertension.		124080	24200	2	2003	 A variant within the CYP11B2 locus has a clinically important impact on the severity of SBP changes in individuals with newly diagnosed hypertension who are of African ethnicity.	Cohort 231 newly diagnosed hypertensive patients of African ancestry who had never received hypertension treatment 										
120208		restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis	8	8q21-q22	CYP11B2	143988976	143996261		Ryu, S. K.  et al. 2002	12205735				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Yonsei medical journal. 2002 Aug;43(4):461-72	Renin-angiotensin-aldosterone system (RAAS) gene polymorphism as a risk factor of coronary in-stent restenosis.		124080	24197	2	2002	In conclusion, while the ACE I/D polymorphism promoted the progress of in-stent restenosis and was of clinical significance, the other potential variables examined did not correlate with in-stent restenosis.	Cohort 238 patients (272 stents) who underwent coronary stenting and follow-up angiography 										
120209		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	8	8q21-q22	CYP11B2	143988976	143996261		Tiago, A. D.  et al. 2002	12031704				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Cardiovascular research. 2002 Jun;54(3):584-9	An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.		124080	24198	2	2002	 A CYP11B2 gene variant predicts the variable improvement in LV ejection fraction that occurs subsequent to initiating medical therapy in IDC. These data suggest a role for the aldosterone synthase locus in regulating the progression of heart failure.	Case:107 patients with dilated cadiomyopathy	ACE inhibitor digoxin furosemide									
120206		intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis	8	8q21-q22	CYP11B2	143988976	143996261		Balkestein, E. J.  et al. 2002	12172317				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Caucasian	Belgium	CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2002 Aug;20(8):1551-61	Carotid and femoral intima-media thickness in relation to three candidate genes in a Caucasian population.		124080	24195	2	2002	This study shows that a relationship exists between the intima-media thickness of the large muscular femoral artery and the ACE gene. This relationship is only apparent in the presence of either the alpha-adducin 460Trp or the aldosterone synthase -344T allele. These findings may have clinical implications for the assessment of genetic cardiovascular risk.	Cohort 380 subjects enrolled in a population study 										
120207		renal disease, end stage	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Lovati, E.  et al. 2001	11422735				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		124080	24196	2	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
120204		carotid and femoral artery stiffness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	8	8q21-q22	CYP11B2	143988976	143996261		Balkestein, E. J.  et al. 2001	11711521				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension. 2001 Nov;38(5):1190-7	Carotid and femoral artery stiffness in relation to three candidate genes in a white population.		124080	24193	2	2001	These data show that functional large artery properties are influenced by the ACE I/D polymorphism. Cross-sectional compliance and distensibility coefficients are influenced by the ACE I/D genotype, but this influence depends on the vascular territory and genetic background.	Cohort 756 subjects enrolled in a population study 										
120205		creatinine; protein excretion, urinary	METABOLIC	MET	Proteinuria|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Wang, J. G.  et al. 2001	11728946				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			American journal of kidney diseases. 2001 Dec;38(6):1158-68	Renal function in relation to three candidate genes		124080	24194	2	2001	Thus, in the present cross-sectional analysis, renal function was slightly but consistently impaired when both the ACE D and alpha-adducin Trp alleles were present. These findings, together with experimental studies and our previous reports on femoral intima media thickness and the incidence of hypertension, constitute a growing body of evidence delineating a clinical entity genetically determined by the risk-carrying ACE D and alpha-adducin Trp alleles.	Cohort 1454 participants drawn at random from the population (64.3% of those invited), aged 43.4 years and included 744 women (51.2%) 										
120202		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Clark, C. J.  et al. 2000	11116113				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension. 2000 Dec;36(6):990-4	alpha-adducin and angiotensin I-converting enzyme polymorphisms in essential hypertension		124080	24191	2	2000	no evidence was found to suggest an association between either the alpha-adducin G460W or the ACE I/D polymorphism and hypertension in a careful case-control study. Furthermore, the alpha-adducin G460W, ACE I/D, and aldosterone synthase SF-1 and IC polymorphisms do not appear to interact in our hypertensive population.	Control individually age- and gender-matched normotensive control subjects;Case:128 patients with essential hypertension										
120203		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Staessen, J. A.  et al. 2001	11518842				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Caucasian		CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2001 Aug;19(8):1349-58	Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.		124080	24192	2	2001	 Epistatic interactions between the ACE, ADD and AS genes contribute to the prevalence and incidence of hypertension in Caucasians. The clinical relevance of the risk-conferring haplotypes identified in our prospective study was underscored by their positive predictive values, which under the assumption of a 20% life-time risk of hypertension, ranged from 29.8-40.1%.	Cohort 1461 subjects randomly selected from a Caucasian population 										
120200		11beta-hydroxylase activity	PHARMACOGENOMIC	PHARM		8	8q21-q22	CYP11B2	143988976	143996261		Ganapathipillai, S.  et al. 2004	15507509				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1220-5	CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity.		124080	20898	2	2004	These findings indicate that genotypes at the CYP11B locus are in strong LD and that identified haplotypes predict 11beta-hydroxylase activity.	Cohort 100/99 individuals from populations of Europe (n = 100) and South America (n = 99) 										
120201		hypertension; hyperaldosteronism	CARDIOVASCULAR	CARD	Hypertension|Hyperaldosteronism	8	8q21-q22	CYP11B2	143988976	143996261		Adler, G.  et al. 2005	16110193				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		Poland	CDC GDPinfo	1585	Hs.632054			Journal of applied genetics. 2005 ;46(3):329-32	Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinicalcentres in Poland.		124080	20899	2	2005												
120198	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Pamies-Andreu, E.  et al. 2003	12624609				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of human hypertension. 2003 Mar;17(3):187-91	Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.		124080	20896	2	2003	Although there is no association between salt sensitivity and the different studied genotypes of the RAAS and of the GNB3, our data show a greater risk for salt sensitivity among carriers of the W allele of the CYP11B2 1C polymorphism.	Cohort 102 essential hypertensive patients 										
120199		hypertension	CARDIOVASCULAR	CARD	Hypertension|Hyperaldosteronism	8	8q21-q22	CYP11B2	143988976	143996261		Nicod, J.  et al. 2004	15062555				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Molecular and cellular endocrinology. 2004 Feb;214(2-Jan):167-74	Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.		124080	20897	2	2004	 We present here a complete method for the genetic analysis of the CYP11B1 and CYP11B2 genes. By this method we could not identify genetic variants responsible for a GRA-like phenotype. The presence of high levels of 18OHF should not be used alone as a diagnosis tool for GRA.	Cohort 429 hypertensive patients 										
131007		Atopy. BHR	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Hill MR1995	12944417	Leu181/Leu183			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	British/Australian		KGB	2206	Hs.386748			Human molecular genetics. 2003 Oct;12(20):2577-85			147138	2621	1	1995												
120197	Y	heart rate	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Stolarz, K.  et al. 2004	15238568				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Hypertension. 2004 Aug;44(2):156-62	Genetic variation in CYP11B2 and AT1R influences heart rate variability conditional on sodium excretion.		124080	20895	2	2004	Thus, CYP11B2 C-344T and AT1R A1166C polymorphisms affect the autonomic modulation of heart rate, but these genetic effects depend on sodium excretion.	Cohort 320 unrelated subjects 										
138627		C4A null	HEMATOLOGICAL	HEM	Lupus Erythematosus, Systemic	6	6p21.3	C4A	32057812	32078435		Poncet D et al. 1983	6606418				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			KGB	720	Hs.534847			Australian and New Zealand journal of medicine. 1983 Oct;13(5):483-8	Complement allotyping in SLE: association with C4A null.		120810	7550	1	1983												
120194		hypertension; nephrotic syndrome	CARDIOVASCULAR	CARD	Glomerulonephritis|Chronic Disease	8	8q21-q22	CYP11B2	143988976	143996261		Kamyshova, E. S.  et al. 2005	16078594				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Ter Arkh. 2005 ;77(6):16-20	[The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis]		124080	20892	2	2005	 There is association of polymorphic markers I/D of ACE gene, C(-344)T of gene CYP11B2 and 4a/4b of gene NOS3 with clinical features of CGN. Carriers of alleles associated with high activity of PAAC--allele D of gene ACE, allele C of gene CYP11B2 and allele 4a of gene NOS3--had more severe clinical picture at all stages of the disease.											
120195		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Bengra, C.  et al. 2002	12446468				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Italian		CDC GDPinfo	1585	Hs.632054			Clinical chemistry. 2002 Dec;48(12):2131-40	Genotyping of essential hypertension single-nucleotide polymorphisms by a homogeneous PCR method with universal energy transfer primers.		124080	20893	2	2002	 We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.	Case:60 Italian hypertensive patients;Control:60 normotensive controls										
120191	Y	blood pressure, arterial; arterial wall changes	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Wojciechowska, W.  et al. 2004	15614025				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2004 Dec;22(12):2311-9	Association of peripheral and central arterial wave reflections with the CYP11B2 -344C allele and sodium excretion		124080	20889	2	2004	 The CYP11B2 C-344T polymorphism affects arterial stiffness. However, sodium intake seems to modulate this genetic effect.	Cohort 64 unrelated individuals randomly recruited from three European populations 										
120193	N	nephropathy	RENAL	REN	Glomerulonephritis|Chronic Disease|Disease Progression	8	8q21-q22	CYP11B2	143988976	143996261			15532370				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Ter Arkh. 2004 ;76(9):16-20	[Association of the complex of polymorphic markers of ACE genes, aldosteron synthetase and endothelial synthetase of nitric oxide with progression of chronic glomerulonephritis]		124080	20891	2	2004	 No association was detected between polymorphic markers of genes ACE, CYP11B2 and NOS3 and onset of CGN. Carriage of D+C+4a allele combination is an independent factor of risk for fast progression of chronic renal failure.	Case:117 chronic glomerulonephritis patients;Control:80 controls free of renal diseases and arterial:hypertension										
120189		aldosterone	METABOLIC	MET		8	8q21-q22	CYP11B2	143988976	143996261		Kathiresan, S.  et al. 2005	15882548				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			American journal of hypertension. 2005 May;18(5 Pt 1):657-65	Clinical and genetic correlates of serum aldosterone in the community: the Framingham HeartStudy.		124080	18718	2	2005	 We observed a complex relation between serum aldosterone and vascular risk factors. The genetic contribution to serum aldosterone level was modest.	Cohort 2,891 Framingham Offspring Study participants (53.2% women, mean age 59 years) 										
120190		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Chen, A.  et al. 2002	12133420				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 May;41(5):298-301	[The relationship of aldosterone synthase gene polymorphism with hypertension and left ventricular hypertrophy]		124080	20888	2	2002	 (1) No relationship between the polymorphism of CYP11B2 gene and ACE gene with essential hyptension could be found. (2) A significant relationship between the polymorphism of ACE and CYP11B2 gene with LVH in EH could be found. I allele of ACE gene and C allele of CYP11B2 gene may be independent risk factors for LVH in hypertensive patients. (3) There is a synergistic effect between the polymorphism of ACE gene and CYP11B2 gene to result in LVH in EH.	Cohort 136 hypertensive patients 										
120187	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Gu, D.  et al. 2004	15479186				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Chinese	China	CDC GDPinfo	1585	Hs.632054			Clinical genetics. 2004 Nov;66(5):409-16	Haplotypic analyses of the aldosterone synthase gene CYP11B2 associated with stage-2 hypertension in northern Han Chinese.		124080	15978	2	2004	These results indicate that the Lys173 and the IC-conversion allele of the CYP11B2 gene confer an increased risk for stage-2 hypertension in northern Han Chinese women.	Control age-, gender-, and area-matched controls;Case:503 northern Han Chinese hypertensive										
120188		left ventricular hypertrophy; sodium, urinary	CARDIOVASCULAR	CARD	Hypertension, Renal|Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Isaji, M.  et al. 2005	15894890				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2005 Jun;23(6):1149-57	Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2.		124080	15979	2	2005	 The -344CC or intron 2 conversion (-/-) genotype in CYP11B2 may be a risk factor for developing sodium-sensitive cardiac hypertrophy. Ethnic differences in the distribution of CYP11B2 genotypes combined with differences in salt intake might account for inconsistencies between previous reports.	Case:360 hypertensive Japanese individuals;Control:535 normotensive individuals										
120185	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Wrona, A.  et al. 2004	15230231			promoter	Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Caucasian	Poland	CDC GDPinfo	1585	Hs.632054			Pol Arch Med Wewn. 2004 Feb;111(2):191-7	[Promoter variants of aldosterone synthase gene (CYP11B2) and salt-sensitivity of blood pressure]		124080	15976	2	2004	Our preliminary results suggest the lack of association of the T(-344)C CYP11B2 polymorphism with salt-sensitive hypertension as well as with activity of plasma renin-angiotensin-aldosterone system in Caucasian patients.	Cohort 68 Polish hypertensives 	salt									
120186	Y	hormone disturbance	METABOLIC	MET		8	8q21-q22	CYP11B2	143988976	143996261		Kennon, B.  et al. 2004	15272911				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Clinical endocrinology. 2004 Aug;61(2):174-81	Aldosterone synthase gene variation and adrenocortical response to sodium status, angiotensin II and ACTH in normal male subjects.		124080	15977	2	2004	 We conclude that this polymorphism has no major influence on normal zona glomerulosa function but is associated with a change in 11beta-hydroxylation in the zona fasciculata. The mechanism remains uncertain, but alteration of 11-deoxycortisol levels without change in cortisol suggests altered efficiency of 11beta-hydroxylation. In the long term, this may lead to a minor but chronic increase in ACTH drive to the gland, which may have consequences for steroid synthesis and predispose to the risk of cardiovascular disease.	Cohort 44 normal volunteers stratified by CYP11B2 genotype 	sodium									
120183		aldosterone	METABOLIC	MET	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Lim, P. O.  et al. 2002	12213905				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4398-402	Variation at the aldosterone synthase (CYP11B2) locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio.		124080	15974	2	2002	This study supports the notion that there is a genetic component that regulates aldosterone production and that hyperaldosteronism might develop over time in susceptible individuals.	Cohort 375 consecutive referrals to the Tayside hypertension clinic 1998 										
120184	N	myocardial infarct; atherosclerosis, coronary; cardiac death; revascularization, coronary	CARDIOVASCULAR	CARD	Coronary Disease	8	8q21-q22	CYP11B2	143988976	143996261		Payne, J. R.  et al. 2004	15135254			promoter	Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		Great Britain	CDC GDPinfo	1585	Hs.632054			Atherosclerosis. 2004 May;174(1):81-6	The -344T>C promoter variant of the gene for aldosterone synthase (CYP11B2) is not associated with cardiovascular risk in a prospective study of UK healthy men.		124080	15975	2	2004	 Aldosterone synthase genotype is unrelated to overall CAD events risk. A possible interaction with smoking requires confirmation.	Cohort 2,490 healthy middle-aged Caucasian male subjects from the Second Northwick Park Heart Study 										
120181	Y	hypertension	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Matsubara, M.  et al. 2001	11728005				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese		CDC GDPinfo	1585	Hs.632054			Clinical and experimental hypertension (New York, NY :  1993). 2001 Nov;23(8):603-10	Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasamastudy.		124080	15972	2	2001	These results indicate the presence of 3 allelic haplotypes of CYP11B2, -344C with normal intron 2 and 173R, -344T with normal intron 2 and 173K, and -344T with converted intron 2 and 173K, in the general Japanese population. The frequency (total 1.0) was 0.35, 0.53, and 0.12, respectively. The presence of allelic haplotypes is considered to be an additional genetic information to individual polymorphism of CYP11B2 to determine the linkage between CYP11B2 polymorphisms and hypertension.	Cohort 1290 participants of the Ohasama study, who represent the general population of a rural community of northern Japan northern Japan 										
120182		blood pressure	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Ortlepp, J. R.  et al. 2002	12065207				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			European journal of pharmacology. 2002 Jun;445(2-Jan):151-2	Variants of the CYP11B2 gene predict response to therapy with candesartan.		124080	15973	2	2002	Genotyping for two candidate genes was performed in 116 patients. Genotypes of the CYP11B2 promotor polymorphism significantly predicted a positive	Cohort 116 patients with an elevated diastolic blood pressure 	candesartan									
120179		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Listgarten, J.  et al. 2004	15102677				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Clinical cancer research. 2004 Apr;10(8):2725-37	Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms		124080	9836	2	2004	We have shown that multiple SNP sites from different genes over distant parts of the genome are better at identifying breast cancer patients than any one SNP alone. As high-throughput technology for SNPs improves and as more SNPs are identified, it is likely that much higher predictive accuracy will be achieved and a useful clinical tool developed.	Control matched normal controls;Case:174 breast cancer patients										
120180		Conn's syndrome	CARDIOVASCULAR	CARD	Adenoma|Adrenal Cortex Neoplasms|Hyperaldosteronism	8	8q21-q22	CYP11B2	143988976	143996261		Inglis, G. C.  et al. 2001	11422106				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Clinical endocrinology. 2001 Jun;54(6):725-30	Polymorphic differences from normal in the aldosterone synthase gene (CYP11B2) in patients with primary hyperaldosteronism and adrenal tumour (Conn's syndrome).		124080	15971	2	2001	 While it is unlikely that this difference from normal is related to tumour growth, these genotypes may predispose the tumour to aldosterone production.	Control normal controls;Case:27 well-characterized Conn's syndrome cases										
120176	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Autoimmune Diseases|Disease Progression|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Goeb, V.  et al. 2005	16207322				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Arthritis research & therapy. 2005 ;7(5):R1056-62	Association between the TNFRII 196R allele and diagnosis of rheumatoid arthritis.		124080	9703	2	2005												
120177		blood pressure, arterial	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Casiglia, E.  et al. 2005	16208140				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2005 Nov;23(11):1991-6	C-344T polymorphism of the aldosterone synthase gene and blood pressure in the elderly: apopulation-based study.		124080	9704	2	2005	 These data support the concept that the C-344T polymorphism plays a role in controlling systolic blood pressure and the age-related increase in systolic blood pressure in response to age and to body fat, possibly through differences in modulation of aldosterone synthesis.		antihypertensive smoking (tobacco)									
120173		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Rajput, C.  et al. 2005	15643128				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2005 Jan;23(1):79-86	CYP11B2 gene polymorphisms and hypertension in highlanders accustomed to high salt intake.		124080	9700	2	2005	 Our findings showed a correlation of C allele with high BMI, suggesting that -344T/C polymorphism is in linkage disequilibrium with a functional polymorphism on the adjacent 11-beta hydroxylase gene. The correlation of the intron-2 conversion allele with high SBP and ARR associates it with hypertension. The intron-2 conversion could be a functional variant, since it has been suggested to lead to overexpression of the gene; however, the presence of another functional variant in linkage disequilibrium within the gene cannot be ruled out.	Case:100 hypertensive highlanders;Control:190 normotensive highlanders										
120174		small artery compliance	UNKNOWN	UNK		8	8q21-q22	CYP11B2	143988976	143996261		Li, X. L.  et al. 2005	16080805	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):599-602	[Relationship between the aldosterone synthase (CYP11B2)-344C/T polymorphism and small artery compliance]		124080	9701	2	2005	 The CYP11B-344C/T polymorphism is associated with small artery compliance, and TT subjects are susceptible to abnormality of small arterial compliance.											
120171	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Xu, X.  et al. 2004	15583997	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Kazakh population of Xinjiang Barlikun area.	China	CDC GDPinfo	1585	Hs.632054			Zhonghua yi xue yi chuan xue za zhi. 2004 Dec;21(6):622-4	[Association of the T(-344)C polymorphism of aldosterone synthase gene CYP11B2 with essential hypertension in Xinjiang Kazakh isolated group.]		124080	9698	2	2004	 The results suggested that the T(-344)C polymorphism of CYP11B2 gene may be associated with hypertension in female Kazakh population of Xinjiang Barlikun area.	Control:168 normotensive controls;Case:186:hypertensives Xinjiang Barlikun, China										
120172	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Rao, L.  et al. 2003	15600184				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Chinese		CDC GDPinfo	1585	Hs.632054			Sichuan da xue xue bao Yi xue ban. 2003 Jan;34(1):70-1, 74	[Associations between aldosterone synthase gene polymorphisms and left ventricular structure and function in Chinese normal Han People]		124080	9699	2	2003	 The above data are not in favor of a significant association between the polymorphisms of aldosterone synthase gene CYP11B2 and the LV structure and function in Chinese normal Han people.	Cohort 110 Chinese Han persons aged 20 to 49 years 										
120169	Y	hypertension	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Sun, X. J.  et al. 2004	15505931	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):502-4	Associations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationality in Shandong province		124080	9696	2	2004	 These results suggest that -344T/C polymorphism of CYP11B2 gene may be associated with low-renin essential hypertension in the Han nationality in Shandong province.	Case Chinese Han primary, normal- or high-renin hypertensive patients Shangdong Province, China;Control:controls										
120170	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	8	8q21-q22	CYP11B2	143988976	143996261		Rao, L.  et al. 2004	15573760				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Chinese		CDC GDPinfo	1585	Hs.632054			Sichuan da xue xue bao Yi xue ban. 2004 Nov;35(6):809-11	[Study on association between aldosterone synthase gene polymorphism and the left ventricular structure and function of patients with dilated cardiomyopathy in China]		124080	9697	2	2004	 The data were not in favor of a significant association between the aldosterone synthase gene CYP11B2 and the left ventricular structure and function in patients with DCM.	Cohort 89 patients with dilated cardiomyopathy China 										
120167		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	8	8q21-q22	CYP11B2	143988976	143996261		Heller, S.  et al. 2004	15223724	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Blood pressure. 2004 ;13(3):158-63	Association of -344/T/C aldosterone synthase polymorphism (CYP11B2) with left ventricular structure and humoral parameters in young normotensive men.		124080	9694	2	2004	 In agreement with previous studies, we found that the TT genotype of T-344C polymorphism of aldosterone synthase gene was associated with significantly higher levels of PRA in normotensive men. In subjects with high PRA, the TT genotype was associated with higher values of the LVMI.	Cohort 113 normotensive mid-European Caucasian men aged 18-40 years (mean 27 +/- 5 years) 										
120168	Y	blood pressure, arterial; renin activity; aldosterone	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Barbato, A.  et al. 2004	15361760	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2004 Oct;22(10):1895-901	Aldosterone synthase gene (CYP11B2) C-344T polymorphism, plasma aldosterone, renin activity and blood pressure in a multi-ethnic population.		124080	9695	2	2004	 In this multi-ethnic population, the C-344T CYP1B2 polymorphism is associated with blood pressure, plasma aldosterone levels and ARR. Although significant differences in allele frequencies were found between groups, ethnicity does not explain the results.	Cohort 1,313 middle-aged men and women (456 white, 441 of African origin and 416 South Asian) 										
120165	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Fibrosis	8	8q21-q22	CYP11B2	143988976	143996261		Stella, P.  et al. 2004	14736447				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of the American College of Cardiology. 2004 Jan;43(2):265-70	Association between aldosterone synthase (CYP11B2) polymorphism and left ventricular mass in human essential hypertension		124080	9692	2	2004	 Our data suggest that -344C/T polymorphism affects LV mass and thickness in essential hypertension, independent of adrenal aldosterone. A role for intracardiac aldosterone synthesis is hypothesized.	Cohort 210 never-treated, middle-aged patients (age 41.6 +/- 1.4 years) affected by mild to moderate essential hypertension 										
120166	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Matsubara, M.  et al. 2004	15055249				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	CDC GDPinfo	1585	Hs.632054			Hypertension research. 2004 Jan;27(1):6-Jan	CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasamastudy.		124080	9693	2	2004	Therefore, -344C/T polymorphism in CYP11B2 was considered an independent genetic factor possibly associated with hypertension or atherosclerotic diseases in the Japanese population.	Cohort 1,242 subjects aged 40 and over Ohasama, Japan 										
120163		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Kumar, N. N.  et al. 2003	12817181				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2003 Jul;21(7):1331-7	Haplotype analysis of aldosterone synthase gene (CYP11B2) polymorphisms shows association with essential hypertension.		124080	9690	2	2003	 The T-344C and A6547G, but not the T4986C, variants of the aldosterone synthase gene are associated with HT in females of the Anglo-Celtic population studied. This was reinforced by haplotype analysis.	Case:146:hypertensives;Control:291 normotensive Caucasians										
120164	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	8	8q21-q22	CYP11B2	143988976	143996261		Sarzani, R.  et al. 2003	14704730				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of human hypertension. 2003 Dec;17(12):859-64	Aldosterone synthase alleles and cardiovascular phenotype in young adults		124080	9691	2	2003	In conclusion, the CYP11B2 C(-344)T polymorphism appears to have a slight role in the cardiovascular phenotype of young healthy adults, even if these genotype/phenotype relationships might change with ageing.	Cohort 420 white Caucasian students (mean age 23.5 years, s.d. 2.5 years) 										
120161	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	8	8q21-q22	CYP11B2	143988976	143996261		Zhao, S. P.  et al. 2003	12783697				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Zhonghua fu chan ke za zhi. 2003 Feb;38(2):94-7	[Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome]		124080	9688	2	2003	 (1) The variants (T-->C) of -344T polymorphism site of CYP11B2 gene predisposes increased risk of PCOS. (2) The genotype of -344CC, -344TC may be susceptible genotype of PCOS and has related to the enhanced functional activity of ovarian renin angiotensin system in PCOS.	Case patients with polycystic ovary syndrome;Control:controls										
120162		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Nicod, J.  et al. 2003	12788845				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2495-500	A biallelic gene polymorphism of CYP11B2 predicts increased aldosterone to renin ratio in selected hypertensive patients.		124080	9689	2	2003	These findings support the view of a molecular basis regulating aldosterone production.	Cohort 141 hypertensive patients 										
120159		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Zhu, H.  et al. 2003	12544440				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2003 Jan;21(1):87-95	Contrasting associations between aldosterone synthase gene polymorphisms and essential hypertension in blacks and in whites		124080	9686	2	2003	 The contrasting associations between these variants and essential hypertension do not necessarily exclude the possibility that other, as yet undefined, variants of the aldosterone synthase gene could be linked with hypertension in black people. Nonetheless, the strong association between the intron 2 conversion allele and essential hypertension in the white population reinforces the view that the increased blood pressure may be due, at least in part, to abnormal expression of enzymes involved in the metabolism of adrenal mineralocorticoids.	Control:95/99 white (n=95) and black (n=99) controls;Case:98/146 white (n=98) and black (n=146) hypertensive:individuals										
120160	Y	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Hypertension|Disease Progression|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Song, J.  et al. 2003	12746403				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of medical genetics. 2003 May;40(5):372-6	Gender specific association of aldosterone synthase gene polymorphism with renal survival in patients with IgA nephropathy.		124080	9687	2	2003	Genetic variation in or near the CYP11B2 gene is a possible genetic marker for the progression of renal dysfunction in females with IgAN but not males.	Cohort 271 patients with biopsy proven Ig A nephropathy 										
120157	Y	hypertension	CARDIOVASCULAR	CARD	Ventricular Dysfunction, Left|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Asadullina, G. V.  et al. 2002	12391843	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Russian	Bashkiria	CDC GDPinfo	1585	Hs.632054			Molekuliarnaia biologiia. 2002 Sep-Oct;36(5):805-6	[Association of the -344T/C polymorphism of the aldosterone synthase gene with essential hypertension]		124080	9684	2	2002	Thus, we for the first time analyzed the -344T/C CYP11b2 polymorphism in ethnic Russians from Bashkortostan and associated it with DDLV in EH	Case:78 men who had stage II hypertension:Russia;Control:93 unrelated men without signs of cardiovascular or other chonic disorders										
120158	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Tsukada, K.  et al. 2002	12444540				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of human hypertension. 2002 Nov;16(11):789-93	Positive association of CYP11B2 gene polymorphism with genetic predisposition to essential hypertension.		124080	9685	2	2002	Our data suggest that the -344C allele of CYP11B2 gene polymorphism is associated with the genetic predisposition to develop essential hypertension.	Control:221 normotensive subjects;Case:250 essential hypertension subjects										
120154		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Kurland, L.  et al. 2002	12022239	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			American journal of hypertension. 2002 May;15(5):389-93	Aldosterone synthase (CYP11B2) -344 C/T polymorphism is related to antihypertensive response: result from the Swedish Irbesartan LeftVentricular Hypertrophy Investigation versus Atenolol (SILVHIA) trial.		124080	9681	2	2002	 The aldosterone synthase -344 C/T polymorphism was related to the BP-lowering response in hypertensive patients treated with the AT1-receptor antagonist irbesartan.	Cohort 43/43 Patients with mild-to-moderate primary hypertension and left ventricular hypertrophy randomized to receive treatment with either irbesartan (n = 43), or atenolol (n = 43) 	atenolol irbesartan									
120155		blood pressure; aldosterone	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Russo, P.  et al. 2002	12195120	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2002 Sep;20(9):1785-92	Interaction between the C(-344)T polymorphism of CYP11B2 and age in the regulation of blood pressure and plasma aldosterone levels: cross-sectional andlongitudinal findings of the Olivetti Prospective Heart Study		124080	9682	2	2002	 Inter-individual variation of blood pressure and plasma aldosterone is affected by the interaction of C(-344)T polymorphism and ageing, thus supporting a role for this variant in mechanisms affecting blood pressure regulation.	Cohort 811 untreated men from the cross-sectional and longitudinal (1980-1995) survey of male workers in southern Italy 										
120152		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Rossi, E.  et al. 2001	11587161	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Italian	Italy	CDC GDPinfo	1585	Hs.632054			American journal of hypertension. 2001 Sep;14(9 Pt 1):934-41	-344C/T polymorphism of CYP11B2 gene in Italian patients with idiopathic low renin hypertension.		124080	9679	2	2001	The present study suggests that the -344C/T polymorphism, or a functional variant in linkage disequilibrium with it, may play a role in the abnormal regulation of aldosterone secretion in idiopathic low renin hypertension.	Control:126 normotensive control subjects;Case:30 subjects with idiopathic hyperaldosteronism;Case:53 patients with low renin essential hypertension:Italy;Control:78 patients with normal to high renin essential:hypertension										
120153		blood pressure	CARDIOVASCULAR	CARD	Cardiovascular Diseases	8	8q21-q22	CYP11B2	143988976	143996261		Matsubara, M.  et al. 2001	11725161	(-344C/T )			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	CDC GDPinfo	1585	Hs.632054			Journal of hypertension. 2001 Dec;19(12):2179-84	Aldosterone synthase gene (CYP11B2) C-334T polymorphism, ambulatory blood pressure and nocturnal decline in blood pressure in the general Japanese population: the Ohasama Study.		124080	9680	2	2001	 Although the C-344 T polymorphism of CYP11B2 did not directly influence the level of 24 h BP, the CC genotype was associated with decreased nocturnal BP in elderly or male Japanese. Since prevalence of previous cardiovascular disease was significantly less in homozygous CC subjects, greater nocturnal BP decline in this genotype appears to be beneficial in the circadian BP rhythm.	Cohort 802 subjects, aged 40 and over Japan 	alcohol antihypertensive drug smoking (tobacco)									
120149	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	8	8q21-q22	CYP11B2	143988976	143996261		Tiago AD et al. 2002	12031704				cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498			KGB	1585	Hs.511880	improvement in left ventricular ejection fraction		Cardiovascular research. 2002 Jun;54(3):584-9	An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.		124080	1679	1	2002	 A CYP11B2 gene variant predicts the variable improvement in LV ejection fraction that occurs subsequent to initiating medical therapy in IDC. These data suggest a role for the aldosterone synthase locus in regulating the progression of heart failure.		ACE inhibitor digoxin furosemide									
120151	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Tsujita, Y.  et al. 2001	11325068				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	CDC GDPinfo	1585	Hs.632054			Hypertension research. 2001 Mar;24(2):105-9	Lack of association between genetic polymorphism of CYP11B2 and hypertension in Japanese: the SuitaStudy.		124080	9678	2	2001	the T(-344)C polymorphism of CYP11B2 is unlikely to influence blood pressure status in the Japanese population.	Case:1535 hypertensive subjects:Japan;Control:2514 normotensive subjects:Japan										
120146	Y	cardiovascular	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Ventricular Dysfunction, Left	8	8q21-q22	CYP11B2	143988976	143996261		Takai E et al. 2002	12433910				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			KGB	1585	Hs.632054			Heart (British Cardiac Society). 2002 Dec;88(6):649-50	Association between aldosterone synthase (CYP11B2) gene polymorphism and left ventricular volume in patients with dilated cardiomyopathy.		124080	1676	1	2002												
120147	Y	hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Chen AH et al. 2002	12376254				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			KGB	1585	Hs.632054			Di yi jun yi da xue xue bao. 2002 Aug;22(8):704-6	Association between aldosterone synthase gene polymorphism and hypertrophic cardiomyopathy		124080	1677	1	2002	 CT genotype of CYP11B2 gene may be one of factors responsible for the pathogenesis of HCM in a proportion of patients.	Case:15 hypertrophic cardiomyopathy patients;Control:18 healthy subjects										
120148	Y	essential hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261	0.008	Tsukada K 2002	12444540	-344T/C			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			KEW	1585	Hs.632054			Journal of human hypertension. 2002 Nov;16(11):789-93	Positive association of CYP11B2 gene polymorphism with genetic predisposition to essential hypertension.		124080	1678	1	2002	Our data suggest that the -344C allele of CYP11B2 gene polymorphism is associated with the genetic predisposition to develop essential hypertension.	Control:221 normotensive subjects;Case:250 essential hypertension subjects										
120143	N	Hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261	n	Tsujita Y 2001	11325068				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Japanese	Japan	KGB	1585	Hs.632054			Hypertension research. 2001 Mar;24(2):105-9	Lack of association between genetic polymorphism of CYP11B2 and hypertension in Japanese: the SuitaStudy.		124080	1673	1	2001	the T(-344)C polymorphism of CYP11B2 is unlikely to influence blood pressure status in the Japanese population.	Case:1535 hypertensive subjects:Japan;Control:2514 normotensive subjects:Japan										
120144	Y	End- Stage Renal Disease (ESRD)	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Lovati E 2001	11422735	``-344T/C			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			TJB	1585	Hs.632054			Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		124080	1674	1	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
120141	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261	P = 0.01	Zhu H 2003	12544440	344T allele: K173 allele			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	white and black individuals London no association in Blacks		KEW	1585	Hs.632054			Journal of hypertension. 2003 Jan;21(1):87-95	Contrasting associations between aldosterone synthase gene polymorphisms and essential hypertension in blacks and in whites		124080	1671	1	2003	 The contrasting associations between these variants and essential hypertension do not necessarily exclude the possibility that other, as yet undefined, variants of the aldosterone synthase gene could be linked with hypertension in black people. Nonetheless, the strong association between the intron 2 conversion allele and essential hypertension in the white population reinforces the view that the increased blood pressure may be due, at least in part, to abnormal expression of enzymes involved in the metabolism of adrenal mineralocorticoids.	Control:95/99 white (n=95) and black (n=99) controls;Case:98/146 white (n=98) and black (n=146) hypertensive:individuals										
120142	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261	n	Tiret L 2000	10636255	T-344C polymorphism			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			KGB	1585	Hs.632054			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			124080	1672	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
120138	Y	11beta-hydroxylase activity	PHARMACOGENOMIC	PHARM		8	8q21	CYP11B1	143950774	143958238		Ganapathipillai, S.  et al. 2004	15507509				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3			CDC GDPinfo	1584	Hs.184927			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1220-5	CYP11B2-CYP11B1 haplotypes associated with decreased 11 beta-hydroxylase activity.		202010	15968	2	2004	These findings indicate that genotypes at the CYP11B locus are in strong LD and that identified haplotypes predict 11beta-hydroxylase activity.	Cohort 100/99 individuals from populations of Europe (n = 100) and South America (n = 99) 										
120139		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	8	8q21	CYP11B1	143950774	143958238		Paperna, T.  et al. 2005	16030166				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3		Morocco	CDC GDPinfo	1584	Hs.184927			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5463-5	Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.		202010	15969	2	2005	 The high incidence of 11-OHD in MJ, therefore, is only partially explained by the presence of R448H as a founder mutation.											
120140		hypertension; hyperaldosteronism	CARDIOVASCULAR	CARD	Hypertension|Hyperaldosteronism	8	8q21	CYP11B1	143950774	143958238		Adler, G.  et al. 2005	16110193				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3		Poland	CDC GDPinfo	1584	Hs.184927			Journal of applied genetics. 2005 ;46(3):329-32	Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinicalcentres in Poland.		202010	15970	2	2005												
120136		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21	CYP11B1	143950774	143958238		Sugiyama, T.  et al. 2001	11675945				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3	Japanese	Japan	CDC GDPinfo	1584	Hs.184927			Hypertension research. 2001 Sep;24(5):515-21	Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population.		202010	9676	2	2001	Our data did not support the association between Mendelian disease gene variants and essential hypertension in the Japanese. However, the present study did not definitively resolve this issue and further investigation is certainly warranted.	Case:247 severe hypertensive patients with early onset (<45:years);Control:291 older normotensive subjects (>60 years)										
120137		hypertension	CARDIOVASCULAR	CARD	Hypertension|Hyperaldosteronism	8	8q21	CYP11B1	143950774	143958238		Nicod, J.  et al. 2004	15062555				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3			CDC GDPinfo	1584	Hs.184927			Molecular and cellular endocrinology. 2004 Feb;214(2-Jan):167-74	Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production.		202010	15967	2	2004	 We present here a complete method for the genetic analysis of the CYP11B1 and CYP11B2 genes. By this method we could not identify genetic variants responsible for a GRA-like phenotype. The presence of high levels of 18OHF should not be used alone as a diagnosis tool for GRA.	Cohort 429 hypertensive patients 										
120133	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Larsen, J. E.  et al. 2005	16195240				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Carcinogenesis. 2005	CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.		118485	17055	2	2005			smoking (tobacco)									
120134		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Cicek, M. S.  et al. 2005	16172228				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2173-7	Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.		118485	17953	2	2005												
120135		testosterone; estradiol; androstenedione; DHEA; progesterone	METABOLIC	MET		15	15q23-q24	CYP11A1	72417156	72447020		Garcia-Closas, M.  et al. 2002	12385014				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):172-8	Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.		118485	20887	2	2002	Our data suggest that circulating levels of progesterone might be related to parity and alcohol consumption, however the biological plausibility of the observed associations is unclear. We found little support for an influence of the evaluated genetic polymorphisms in the steroid synthesis and metabolism pathway on serum hormone levels, except for a possible effect of the CYP1B1 L432V and S453N polymorphisms on serum estradiol levels. Copyright 2002 Wiley-Liss, Inc.	Cohort 218 pre-menopausal women from Kaiser Permanente Health Plan Portland, Oregon 	alcohol									
120130		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q23-q24	CYP11A1	72417156	72447020		Douglas, J. A.  et al. 2005	16103457				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):2035-9	Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.		118485	9770	2	2005												
120131		polycystic ovary syndrome; testosterone	METABOLIC	MET	Polycystic Ovary Syndrome	15	15q23-q24	CYP11A1	72417156	72447020		Gaasenbeek, M.  et al. 2004	15126571			promoter	Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			The Journal of clinical endocrinology and metabolism. 2004 May;89(5):2408-13	Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.		118485	15966	2	2004	These studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies.	Control:controls:Cohort:1,589 women from a population-based birth cohort:Finland;Case:371 polycystic ovary syndrome patients:UK										
120132	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Dresler, C. M.  et al. 2000	11137199				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Lung cancer (Amsterdam, Netherlands). 2000 Dec;30(3):153-60	Gender differences in genetic susceptibility for lung cancer.		118485	17019	2	2000	These data suggest that polymorphisms in CYP1A1 and GSTM1 contribute to the increased risk of females for lung cancer.	Control:163:controls;Case:180 Surgical patients with a diagnosis of lung cancer	smoking (tobacco)									
120127	N	polycystic ovary syndrome; hyperandrogenism	METABOLIC	MET		15	15q23-q24	CYP11A1	72417156	72447020		Tan, L.  et al. 2005	15793791				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1	Chinese		CDC GDPinfo	1583	Hs.303980			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):216-8	[Relationship between the microsatellite polymorphism of CYP11 alpha gene and the pathogenesis of hyperandrogenism of polycystic ovary syndrome in Chinese]		118485	9673	2	2005	 Micro-satellite polymorphism (tttta)n of gene CYP11 alpha exists in Chinese women and the polymorphism does not relate to the pathogenesis of hyperandrogenism in women with PCOS.	Control:50 normal women;Case:86 polycystic ovary syndrome cases										
120128		polycystic ovary syndrome; hyperandrogenism	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism	15	15q23-q24	CYP11A1	72417156	72447020		Tan, L.  et al. 2005	16116976	(TTTTA)( n )			Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1	Chinese		CDC GDPinfo	1583	Hs.303980			Journal of Huazhong University of Science and Technology Medical sciences. 2005 ;25(2):212-4	Role of the pentanucleotide (tttta)n polymorphisms of Cyp11alpha gene in the pathogenesis of hyperandrogenism in Chinese women with polycystic ovary syndrome.		118485	9674	2	2005												
120129	N	ovarian hyperstimulation syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Ovarian Hyperstimulation Syndrome|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020			16391898	(TTTTA)( n )		promoter	Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Journal of assisted reproduction and genetics. 2006	No Association Between the Microsatellite Polymorphism (TTTTA)( n ) in the Promoter of the CYP11A Gene and Ovarian Hyperstimulation Syndrome		118485	9675	2	2006												
120124		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Goth-Goldstein, R.  et al. 2000	11062177				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			Carcinogenesis. 2000 Nov;21(11):2119-22	Interindividual variation in CYP1A1 expression in breast tissue and the role of genetic polymorphism.		118485	9670	2	2000	We conclude that  high CYP1A1 expression could be a risk factor for breast cancer and that the known CYP1A1 polymorphisms are not good predictors of CYP1A1 expression.	Case:26 breast tissue specimens from breast cancer patients;Control:32 breast tissue specimens from cancer-free:individuals										
120125	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	15	15q23-q24	CYP11A1	72417156	72447020		Kumazawa, T.  et al. 2004	15054879				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDPinfo	1583	Hs.303980			International journal of cancer. Journal international du cancer. 2004 May;110(1):140-4	Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer.		118485	9671	2	2004	Our results suggest that the CYP11A1 polymorphism may have a significant influence on the development of advanced and/or high grade prostate cancer and the absence of the CYP11A1 (tttta)4 allele, i.e., the homozygosity for the (tttta)6 or longer allele, could be a useful marker for the prediction of disease progression of prostate cancer.	Control:213/299 benign prostatic hyperplasia patients (n=213) and male controls (n=299);Case:278 prostate cancer patients										
120121	Y	Multiple familial trichoepithelioma and familial cylindromatosis	CANCER	CAN	Neoplasms, Basal Cell|Skin Neoplasms	16	16q12-q13	CYLD	49333461	49393347		Zheng G 2004	15024746	c.1462delA (P.Ile488fsX9) in exon 9, a nonsense mutation, c.2128C>T (p. Gln710X) in exon 17, and a missense mutation, c.2822A>T (p. Asp941Val) in exon 21			Cylindromatosis (turban tumor syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015247.2	chinese	China	KGB	1540	Hs.578973			Human mutation. 2004 Apr;23(4):400	CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.			1555	1	2004												
120122	Y	advanced prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	15	15q23-q24	CYP11A1	72417156	72447020		Kumazawa T 2004	15054879				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			KGB	1583	Hs.303980			International journal of cancer. Journal international du cancer. 2004 May;110(1):140-4	Microsatellite polymorphism of steroid hormone synthesis gene CYP11A1 is associated with advanced prostate cancer.		118485	1670	1	2004	Our results suggest that the CYP11A1 polymorphism may have a significant influence on the development of advanced and/or high grade prostate cancer and the absence of the CYP11A1 (tttta)4 allele, i.e., the homozygosity for the (tttta)6 or longer allele, could be a useful marker for the prediction of disease progression of prostate cancer.	Control:213/299 benign prostatic hyperplasia patients (n=213) and male controls (n=299);Case:278 prostate cancer patients										
120123		lung cancer	CANCER	CAN	Lung Neoplasms	15	15q23-q24	CYP11A1	72417156	72447020		London, S. J.  et al. 2000	11008920	I462V			Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1	Chinese	China	CDC GDPinfo	1583	Hs.303980			Cancer epidemiology, biomarkers & prevention. 2000 Sep;9(9):987-91	CYP1A1 I462V genetic polymorphism and lung cancer risk in a cohort of men in Shanghai, China		118485	9669	2	2000	In this Chinese cohort, with CYP1A1 valine allele frequency intermediate between Japanese and Caucasian populations, the I462V polymorphism is not related to lung cancer overall, but it might play a role at lower levels of cigarette smoking among subjects with impaired carcinogen detoxification as assessed by the GSTM1-null genotype.	Case:214 incident cases of lung cancer in a prospective cohort study of 18,244 middle-aged and older men in:Shanghai, China.;Control:669 controls in the same prospective cohort study	smoking (tobacco)									
120118		atherosclerosis, coronary	CARDIOVASCULAR	CARD		16	16q24	CYBA	87237197	87244958		Ortlepp, J. R.  et al. 2002	12446192				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		608508	26815	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
120119		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	16	16q24	CYBA	87237197	87244958		Navarro-Lopez, F.   2002	11975906				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		608508	28215	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
120120	Y	iron levels	METABOLIC	MET	Hemochromatosis|Iron Overload	2	2q31.1	CYBRD1	172087232	172122885		Zaahl, M. G.  et al. 2004	15338274				Cytochrome b reductase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024843.2			CDC GDPinfo	79901	Hs.221941			Human genetics. 2004 Oct;115(5):409-17	Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload		605745	19473	2	2004	This study confirms the genetic heterogeneity of haemochromatosis and highlights the significance of CYBRD1 mutations in relation to iron overload.	Case:67 unrelated patients presenting with primary iron:overload;Control:70 population-matched controls										
120115		cardiotoxicity, anthracycline-induced	CARDIOVASCULAR	CARD	Heart Diseases|Drug Toxicity	16	16q24	CYBA	87237197	87244958		Wojnowski, L.  et al. 2005	16330681				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Circulation. 2005 Dec;112(24):3754-62	NAD(P)H Oxidase and Multidrug Resistance Protein Genetic Polymorphisms Are Associated With Doxorubicin-Induced Cardiotoxicity		608508	24189	2	2005	 Genetic variants in doxorubicin transport and free radical metabolism may modulate the individual risk to develop ACT.											
120116		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	16	16q24	CYBA	87237197	87244958		French, J. K.  et al. 2003	12514663				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		608508	24190	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
120117		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Iwai, N.  et al. 2004	15167446				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	CDC GDPinfo	1535	Hs.513803			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		608508	25895	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
120112		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q24	CYBA	87237197	87244958		Hsueh, Y. M.  et al. 2005	16076760				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Taiwan	CDC GDPinfo	1535	Hs.513803			Journal of toxicology and environmental health Part A. 2005 Sep;68(17-18):1471-84	Genetic polymorphisms of oxidative and antioxidant enzymes and arsenic-related hypertension.		608508	20884	2	2005			arsenic									
120113		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Choi, E. H.  et al. 2005	16110781				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		608508	20885	2	2005												
120114	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Kokubo, Y.  et al. 2005	15671602				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	CDC GDPinfo	1535	Hs.513803			Circulation journal. 2005 Feb;69(2):138-42	Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.		608508	20886	2	2005	 The significance of the G(-930)A polymorphism of CYBA was confirmed in the present study with adequate statistical power, which strengthens the hypothesis that this polymorphism is important in the pathogenesis of hypertension and confers susceptibility.	Cohort 3,652 subjects recruited from the Suita study Japan 										
120109		coronary artery spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Murase, Y.  et al. 2004	15172469				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	CDC GDPinfo	1535	Hs.513803			European heart journal. 2004 Jun;25(11):970-7	Genetic risk and gene-environment interaction in coronary artery spasm in Japanese men and women.		608508	17778	2	2004	 The NADH/NADPH oxidase p22 phox gene is a susceptibility locus for coronary artery spasm in men, and the stromelysin-1 and interleukin-6 genes are susceptibility loci in women.	Control:1,595 controls (762 men, 833 women);Case:593 subjects with coronary artery spasm (453 men, 140:women)										
120110	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q24	CYBA	87237197	87244958		Lee, W. H.  et al. 2001	11530961				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Korean	Korea	CDC GDPinfo	1535	Hs.513803			Vascular medicine (London, England). 2001 ;6(2):103-8	Genetic factors associated with endothelial dysfunction affect the early onset of coronary artery disease in Korean males.		608508	18600	2	2001	The ecNOS gene a/b polymorphism and the NADH/NADPH oxidase p22 phox gene C242T polymorphism were found to be significantly associated with the development of CAD in Korean male patients less than 51 years old.	Control:215 healthy male control subjects;Case:305 male coronary artery disease patients:Korea										
120111		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Horibe, H.  et al. 2004	15135268				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Atherosclerosis. 2004 May;174(1):181-7	Genetic risk for restenosis after coronary balloon angioplasty.		608508	19852	2	2004	Genotyping of these polymorphisms may prove informative for assessment of genetic risk for restenosis after POBA.	Cohort 730 individuals (424 men, 306 women) who underwent successful plain old balloon angioplasty in at least one major coronary artery and were examined angiographically 6 months after the procedure 										
120106		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis	16	16q24	CYBA	87237197	87244958		Shimo-Nakanishi, Y.  et al. 2004	15186954				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Atherosclerosis. 2004 Jul;175(1):109-15	Functional effects of NAD(P)H oxidase p22(phox) C242T mutation in human leukocytes and association with thrombotic cerebral infarction.		608508	15964	2	2004	 We conclude that C242T of p22(phox) gene is not involved in thrombotic cerebral infarction but more likely in increased NAD(P)H oxidase activity in phagocytes.	Case:120 patients with thrombotic cerebral infarction;Control:177 control subjects										
120107	Y	oxidative stress	OTHER	OTH		16	16q24	CYBA	87237197	87244958		Park, J. Y.  et al. 2005	16002772				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Journal of applied physiology (Bethesda, Md :  1985). 2005 Nov;99(5):1905-11	NADPH oxidase p22phox gene variants are associated with systemic oxidative stress biomarker responses to exercise training.		608508	15965	2	2005			physical activity									
120108		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	16	16q24	CYBA	87237197	87244958		Ishikawa, K.  et al. 2005	15838728				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		608508	16635	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
120103	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	16	16q24	CYBA	87237197	87244958		Wolf, G.  et al. 2002	12147803				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Germany	CDC GDPinfo	1535	Hs.513803			Nephrology, dialysis, transplantation. 2002 Aug;17(8):1509-12	No association between a genetic variant of the p22(phox) component of NAD(P)H oxidase and the incidence and progression of IgA nephropathy.		608508	15961	2	2002	 It appears that the C242T polymorphism is not associated with IgA nephropathy or active lupus nephritis and may not affect the progressive deterioration of renal function in patients with IgA nephropathy. However, whether the C242T polymorphism plays a role in other renal diseases remains to be studied.	Case:127 patients with IgA nephropathy from a homogenous etnic group northern Germany;Control:46/151 patients with active lupus nepritis (n=46) and healthy blood donors (n=151)										
120104	Y	atherosclerosis	METABOLIC	MET	Carotid Artery Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Hayaishi-Okano, R.  et al. 2003	12547880				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	CDC GDPinfo	1535	Hs.513803			Diabetes care. 2003 Feb;26(2):458-63	Association of NAD(P)H Oxidase p22 phox Gene Variation With Advanced Carotid Atherosclerosis in Japanese Type 2 Diabetes		608508	15962	2	2003	 These results show that the C242T mutation in the p22 phox gene is associated with progression of asymptomatic atherosclerosis in the subjects with type 2 diabetes and is also associated with insulin resistance in nondiabetic subjects.	Case:200 Japanese type 2 diabetic subjects;Control:215 nondiabetic subjects										
120105		diabetes, type 1; nephropathy in other diseases	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Hodgkinson, A. D.  et al. 2003	14578247				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Diabetes care. 2003 Nov;26(11):3111-5	Association of the p22phox component of NAD(P)H oxidase with susceptibility to diabetic nephropathy in patients with type 1 diabetes.		608508	15963	2	2003	 In conclusion, these results suggest NAD(P)H oxidase together with the polyol pathway may contribute to the pathogenesis of diabetic nephropathy.	Control normal healthy controls;Case patients with type 1 diabetes with or without microvascular complications										
120100	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Disease Susceptibility	16	16q24	CYBA	87237197	87244958		Allanore, Y.  et al. 2004	15530459				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	French	France	CDC GDPinfo	1535	Hs.513803			Clinica chimica acta; international journal of clinical chemistry. 2004 Dec;350(2-Jan):51-5	Lack of association of eNOS (G894T) and p22phox NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients.		608508	12854	2	2004	 Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.	Control:49 ehtnically matched controls;Case:77 French Caucasian patients with systemic sclerosis										
120101	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Van Der Logt, E. M.  et al. 2005	15865106				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Anticancer research. 2005 Mar-Apr;25(2B):1465-70	No association between genetic polymorphisms in NAD(P)H oxidase p22phox and paraoxonase 1 and colorectal cancer risk		608508	13240	2	2005	 Variant genotypes of NAD(P)H oxidase p22phox and PON1 do not contribute to the susceptibility to CRC.	Control:354:controls;Case:365 Caucasian colorectal cancer cases										
120102		angina	CARDIOVASCULAR	CARD	Angina Pectoris, Variant|Microvascular Angina|Coronary Vasospasm	16	16q24	CYBA	87237197	87244958		Mashiba, J.  et al. 2005	16308493	Q/R192			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese		CDC GDPinfo	1535	Hs.513803			Circulation journal. 2005 Dec;69(12):1466-71	Vasospastic Angina and Microvascular Angina are Differentially Influenced by PON1 A632G Polymorphism in the Japanese.		608508	13256	2	2005	 There was a significant association between PON1 A632G polymorphism and MVA as well as VSA, but the impact of this on VSA and MVA is different in the Japanese.											
120097		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Ishii, K.  et al. 2004	14968555				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese		CDC GDPinfo	1535	Hs.513803			Rinsho byori The Japanese journal of clinical pathology. 2004 Jan;52(1):22-7	[Genetic risk factors for ischemic cerebrovascular disease--analysis on fifteen candidate prothrombotic gene polymorphisms in the Japanese population]		608508	10864	2	2004	Carrying both of the two mutations might be associated with developing CVD at a younger age.	Case:200 genetically unrelated Japanese patients with ischemic CVD;Control:281 age- and gender-matched control subjects										
120098		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16q24	CYBA	87237197	87244958		Moore, L. E.  et al. 2004	15219943				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Argentina	CDC GDPinfo	1535	Hs.513803			Cancer letters. 2004 Aug;211(2):199-207	Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina.		608508	10923	2	2004	The MTHFR 677 CT and TT polymorphisms appeared protective against bladder cancer.	Case:106 bladder cancer cases;Control:109:controls	smoking (tobacco)	GSTM1	null	GSTT1	null	MTHFR	677 CT and TT	Y	smoking	bladder cancer
120099	N	peripheral vascular disease	CARDIOVASCULAR	CARD		16	16q24	CYBA	87237197	87244958		Fricker, R.  et al. 2004	15255799				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			British journal of clinical pharmacology. 2004 Aug;58(2):169-77	Endothelial venodilator response in carriers of genetic polymorphisms involved in NO synthesis and degradation.		608508	12842	2	2004	 This study suggests that the studied polymorphisms of NOSIII and CYBA do not significantly modulate endothelium-dependent venodilation in individuals without vascular risk factors.	Cohort 72 healthy male Caucasians after careful exclusion of cardiovascular risk factors 										
120094		cytogenetic studies	OTHER	OTH	Hypercholesterolemia|DNA Damage	16	16q24	CYBA	87237197	87244958		Shin, M. J.  et al. 2005	15936011	242T			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Clinica chimica acta; international journal of clinical chemistry. 2005 Oct;360(2-Jan):46-51	A beneficial effect of simvastatin on DNA damage in 242T allele of the NADPH oxidase p22phox in hypercholesterolemic patients.		608508	9666	2	2005	 Simvastatin significantly reduced DNA damage of hypercholesterolemic patients. This study showed that simvastatin has a beneficial effect on the improvement of DNA damage in patients with the 242T allele of NADPH oxidase p22phox gene.	Cohort 72 hypercholesterolemic patients 	simvastatin									
120095		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Doi, K.  et al. 2005	16215641				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Journal of human genetics. 2005 ;50(12):641-7	Haplotype analysis of NAD(P)H oxidase p22 phox polymorphisms in end-stage renal disease.		608508	9667	2	2005												
120096		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Disease Progression	16	16q24	CYBA	87237197	87244958			16358232				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Journal of nephrology. 2005 Nov-Dec;18(6):733-8	Relationship of p22phox C242T polymorphism with nephropathy in type 2 diabetic patients		608508	9668	2	2005	 Our study shows a gene-environment interaction associated with the increased risk of DN progression in Caucasian Brazilian smokers with type 2 diabetes. Further studies should be performed to clarify whether it exists, and to what extent there is a relationship between the p22phox C242T polymorphism and DN.		smoking (tobacco)									
120091		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q24	CYBA	87237197	87244958		San Jose, G.  et al. 2004	15210651	( -930A/G)			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Hypertension. 2004 Aug;44(2):163-9	Functional Effect of the p22phox -930A/G Polymorphism on p22phox Expression and NADPH Oxidase Activity in Hypertension		608508	9663	2	2004	In conclusion, these results suggest that hypertensive subjects carrying the GG genotype of the p22(phox) -930(A/G) polymorphism are highly exposed to NADPH oxidase-mediated oxidative stress.	Case:70 patients with essential hypertension;Control:70 normotensive controls										
120092	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		He, M.  et al. 2004	15461271				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Chinese		CDC GDPinfo	1535	Hs.513803			Wei sheng yan jiu. 2004 Jul;33(4):443-6	[Study on the relationship between the polymorphism of P22phox C242T, vitamin E and coronary heart disease]		608508	9664	2	2004	 The polymorphism of P22phox C242T is associated with CHD in Chinese. Vitamin E is protective against CHD and there is effect on the progress of CHD in the interaction of the polymorphism of P22phox C242T and vitamin E.	Case:151 Chinese patients with coronary heart disease;Control:254:controls	Vitamin E									
120093		agranulocytosis	HEMATOLOGICAL	HEM	Agranulocytosis|Schizophrenia	16	16q24	CYBA	87237197	87244958		Mosyagin, I.  et al. 2004	15538122				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Journal of clinical psychopharmacology. 2004 Dec;24(6):613-7	Impact of myeloperoxidase and NADPH-oxidase polymorphisms in drug-induced agranulocytosis.		608508	9665	2	2004	Sequencing the entire coding region of the NADPH subunit CYBB (gpS1phase) disclosed that CYBB is a highly conserved gene, which does not represent a risk factor for clozapine-induced agranulocytosis. The impact of the polymorphic myeloperoxidase, however, needs further verification to predict a patient's risk to develop drug-induced agranulocytosis.	Control:controls;Case agranulocytosis patients	clozapine ticlopidine									
120088		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	16	16q24	CYBA	87237197	87244958		Matsunaga-Irie, S.  et al. 2004	14747204				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Diabetes care. 2004 Feb;27(2):303-7	Relation between development of nephropathy and the p22phox C242T and receptor for advanced glycation end product G1704T gene polymorphisms in type 2 diabetic patients.		608508	9660	2	2004	 These results suggest that assessment of the combination of NADPH p22phox C242T and RAGE G1704T polymorphisms may be useful in identifying the risk for developing diabetic nephropathy in type 2 diabetic patients.	Control:108 type 2 diabetic patients without diabetic:nephropathy;Case:73 type 2 diabetic patients developing diabetic nephropathy for 10 years or more		NADPH	p22phox C242T	RAGE	G1704T			Y		development of nephropathy in type 2 diabetes
120089	Y	NADPH Oxidase	OTHER	OTH	Arteriosclerosis|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Wyche, K. E.  et al. 2004	15078863				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Hypertension. 2004 Jun;43(6):1246-51	C242T CYBA Polymorphism of the NADPH Oxidase Is Associated With Reduced Respiratory Burst in Human Neutrophils		608508	9661	2	2004	Because p22(phox) exists in both the neutrophil and vessel wall, vascular oxidative stress is likely diminished in individuals with this polymorphism.	Cohort 90 subjects 										
120090		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Myocardial Infarction	16	16q24	CYBA	87237197	87244958		Mata-Balaguer, T.  et al. 2004	15193812				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Spanish	Spain	CDC GDPinfo	1535	Hs.513803			International journal of cardiology. 2004 Jun;95(3-Feb):145-51	Angiotensin-converting enzyme and p22(phox) polymorphisms and the risk of coronary heart disease in a low-risk Spanish population.		608508	9662	2	2004	 Among subjects of a Mediterranean population with low risk for CHD, the presence of DD ACE genotype could be a risk factor for myocardial infarction, and we confirm the linkage disequilibrium between two nucleotide positions of the ACE gene and the polymorphism for an Alu insertion.	Case:104 myocardial infarction cases, younger than 55 years:Spain;Control:106 controls, younger than 55 years										
120085		NADPH Oxidase	OTHER	OTH		16	16q24	CYBA	87237197	87244958		Ji, Z.  et al. 2003	12697486				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Chinese		CDC GDPinfo	1535	Hs.513803			Di yi jun yi da xue xue bao. 2003 Apr;23(4):387-8, 390	C242T p22phox gene polymorphism in the population of Han nationality in Guangdong province.		608508	9657	2	2003	It was found that the C and T allele frequencies were 0.934 and 0.066, and CC and CT+TT genotype frequencies were 0.877 and 0.123, respectively, in the population of Han nationality in Guangdong Province, suggesting the presence of C242T p22phox gene polymorphism with significant racial differences.	Cohort 122 unrelated healthy candidates of Han nationality 										
120086		lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q24	CYBA	87237197	87244958		Nakano, T.  et al. 2003	12927691				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Japan	CDC GDPinfo	1535	Hs.513803			Clinica chimica acta; international journal of clinical chemistry. 2003 Sep;335(2-Jan):101-7	NAD(P)H oxidase p22phox Gene C242T polymorphism and lipoprotein oxidation.		608508	9658	2	2003	 The effect was inconsistent among the markers, but these results suggest that the CYBA C242T polymorphism is involved in NAD(P)H oxidase activity and affects oxidation of lipoproteins by altering the redox state in the vasculature.	Cohort 134 type 2 diabetic patients 										
120087		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	16	16q24	CYBA	87237197	87244958		Matsunaga, S.  et al. 2003	14679084				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese		CDC GDPinfo	1535	Hs.513803			Annals of the New York Academy of Sciences. 2003 Nov;1005:324-7	Nicotinamide adenine dinucleotide phosphate oxidase (NADPH oxidase) P22 Phox C242T gene polymorphism in type 1 diabetes.		608508	9659	2	2003	In conclusion, the p22 phox C242T gene polymorphism did not affect the susceptibility to and clinical course of Japanese type 1 diabetes.	Case:287 Japanese type 1 diabetic patients;Control:425 unrelated nondiabetic subjects										
120082		cholesterol, LDL; insulin resistance	METABOLIC	MET	Insulin Resistance	16	16q24	CYBA	87237197	87244958		Hayaishi-Okano, R.  et al. 2002	12226552				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	CDC GDPinfo	1535	Hs.513803			Journal of atherosclerosis and thrombosis. 2002 ;9(4):200-5	NAD (P) H oxidase p22 phox C242T polymorphism affects LDL particle size and insulin resistance in Japanese subjects.		608508	9654	2	2002	Our data demonstrate that variation in the small NAD(P)H oxidase subunit p22 phox gene substantially influences LDL particle size and may also reflect differences in the insulin sensitivity of non-diabetic subjects.	Cohort 260 healthy Japanese subjects 										
120083		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q24	CYBA	87237197	87244958		Zafari, A. M.  et al. 2002	12230880				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Antioxidants & redox signaling. 2002 Aug;4(4):675-80	The A640G and C242T p22(phox) polymorphisms in patients with coronary artery disease.		608508	9655	2	2002	Our study does not support a functional role for the A640G or C242T polymorphisms either in the severity of CAD or in determining endothelial function in older men.	Cohort 216 patients referred for coronary angiography 										
120084	N	hypercholesterolemia	OTHER	OTH	Hypercholesterolemia	16	16q24	CYBA	87237197	87244958		Schneider, M. P.  et al. 2003	12639216				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Clin Sci (Lond).. 2003 Jul;105(1):97-103	The C242T p22phox polymorphism and endothelium-dependent vasodilation in subjects with hypercholesterolaemia.		608508	9656	2	2003	At a power of 80%, our study excludes a major effect of the C242T CYBA p22phox polymorphism on acetylcholine-mediated endothelium-dependent vasodilation and basal, nitric oxide mediated vascular tone of the human forearm circulation in hypercholesterolemic subjects.	Cohort 90 subjects with elevated cholesterol 										
120079	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Ishii K 2004	14968555	72 Tyr			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese		KGB	1535	Hs.513803			Rinsho byori The Japanese journal of clinical pathology. 2004 Jan;52(1):22-7	Genetic risk factors for ischemic cerebrovascular disease--analysis on fifteen candidate prothrombotic gene polymorphisms in the Japanese population		608508	1554	1	2004	Carrying both of the two mutations might be associated with developing CVD at a younger age.	Case:200 genetically unrelated Japanese patients with ischemic CVD;Control:281 age- and gender-matched control subjects										
120080	Y	vascular NAD(P)H oxidase activity	CARDIOVASCULAR	CARD	Arteriosclerosis	16	16q24	CYBA	87237197	87244958		Guzik, T. J.  et al. 2000	11023926				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			Circulation. 2000 Oct;102(15):1744-7	Functional effect of the C242T polymorphism in the NAD(P)H oxidase p22phox gene on vascular superoxide production in atherosclerosis.		608508	9652	2	2000	 Association of the CYBA 242T allele with reduced NAD(P)H oxidase activity in human blood vessels suggests that genetic variation in NAD(P)H oxidase components may play a significant role in modulating superoxide production in human atherosclerosis.	Case:110 patients with coronary artery disease and identified risk factors										
120081	Y	coronary endothelial vasodilator function	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		Schachinger, V.  et al. 2001	11133215				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDPinfo	1535	Hs.513803			European heart journal. 2001 Jan;22(1):96-101	NADH/NADPH oxidase p22 phox gene polymorphism is associated with improved coronary endothelial vasodilator function.		608508	9653	2	2001	 The C242T polymorphism of the p22 phox gene is an important independent determinant of coronary endothelial vasodilator function. These results provide the first clinical evidence for the functional significance of a polymorphism of a gene related to superoxide anion production in the vascular wall.	Cohort 93 patients with coronary artery disease 										
120076	N	CHD	OTHER	OTH	Coronary Disease	16	16q24	CYBA	87237197	87244958	n	Saha N et al. 1999	10583446				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF414120	Chinese		KGB	1535	Hs.513803			European journal of clinical investigation. 1999 Dec;29(12):999-1002	The p22 phox polymorphism C242T is not associated with CHD risk in Asian Indians and Chinese.		608508	1551	1	1999	 The p22 phox codon 72 polymorphism is not associated with the risk of CHD in the present samples of Asian Indians and Chinese.											
120077	Y	cholesterol	METABOLIC	MET	Coronary Disease|Hypercholesterolemia|Disease Susceptibility	16	16q24	CYBA	87237197	87244958		Shimokata K 2004	14709372	242C -T (His72Tyr)			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese		KGB	1535	Hs.513803			Atherosclerosis. 2004 Jan;172(1):167-73	Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia.		608508	1552	1	2004		Case:3085										
120078		diabetes, type 2	METABOLIC	MET	Carotid Artery Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Hayaishi-Okano R 2003	12547880				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	Y Wang	1535	Hs.513803	Complications		Diabetes care. 2003 Feb;26(2):458-63	Association of NAD(P)H oxidase p22 phox gene variation with advanced carotid atherosclerosis in Japanese type 2 diabetes.		608508	1553	1	2003	 These results show that the C242T mutation in the p22 phox gene is associated with progression of asymptomatic atherosclerosis in the subjects with type 2 diabetes and is also associated with insulin resistance in nondiabetic subjects.	Case:200 Japanese type 2 diabetic subjects;Control:215 nondiabetic subjects										
120072	N	peripheral arterial occlusive disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Peripheral Vascular Diseases|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958	n	Renner W et al. 2000	10996353				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			KGB	1535	Hs.513803			Atherosclerosis. 2000 Sep;152(1):175-9	C242T polymorphism of the p22 phox gene is not associated with peripheral arterial occlusive disease.		608508	1547	1	2000												
120073	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Moreno MU et al. 2003	12729892			promoter	Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			KGB	1535	Hs.513803			FEBS letters. 2003 May;542(3-Jan):27-31	Preliminary characterisation of the promoter of the human p22(phox) gene: identification of a new polymorphism associated with hypertension.		608508	1548	1	2003												
120074	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958	n	Hirashiki A 2003	14563588	242C3T (His72Tyr)			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese	Japan	KGB	1535	Hs.513803			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		608508	1549	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
120069	Y	HIV; pneumocystis carinii pneumonia	INFECTION	INF	Pneumonia, Pneumocystis|Acquired Immunodeficiency Syndrome	3	3p21	CXCR6	45959976	45964849		Duggal, P.  et al. 2003	12761559				Chemokine (C-X-C motif) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006564.1	African Americans	Baltimore	CDC GDPinfo	10663	Hs.34526			Genes and immunity. 2003 Jun;4(4):245-50	Genetic influence of CXCR6 chemokine receptor alleles on PCP-mediated AIDS progression among African Americans.		605163	9651	2	2003	We suggest that CXCR6 may play a role in late-stage HIV-1 infection and may alter the progression to death after initial infection with PCP.	Cohort 805 individuals from an African-American injection drug-using cohort Baltimore, MD, USA 										
120070	Y	coronary heart disease in younger individuals.	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		Gardemann A et al. 1999	10488959	A640G			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			KGB	1535	Hs.513803			Atherosclerosis. 1999 Aug;145(2):315-23	The p22 phox A640G gene polymorphism but not the C242T gene variation is associated with coronary heart disease in younger individuals.		608508	1545	1	1999	 Our observations allow the assumption that the p22 phox A640G gene polymorphism is independently associated with the presence and extent of coronary artery disease.											
120071	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		Schachinger V et al. 2001	11133215				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			KGB	1535	Hs.513803			European heart journal. 2001 Jan;22(1):96-101	NADH/NADPH oxidase p22 phox gene polymorphism is associated with improved coronary endothelial vasodilator function.		608508	1546	1	2001	 The C242T polymorphism of the p22 phox gene is an important independent determinant of coronary endothelial vasodilator function. These results provide the first clinical evidence for the functional significance of a polymorphism of a gene related to superoxide anion production in the vascular wall.	Cohort 93 patients with coronary artery disease										
120066		HIV	INFECTION	INF	HIV Infections	2	2q21	CXCR4	136588388	136592195		Petersen, D. C.  et al. 2005	16284526				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1	African	South Africa	CDC GDPinfo	7852	Hs.421986			Journal of acquired immune deficiency syndromes (1999). 2005 Dec;40(5):521-6	Risk for HIV-1 Infection Associated With a Common CXCL12 (SDF1) Polymorphism and CXCR4 Variation in an African Population.		162643	20883	2	2005												
120067		asthma; HIV disease progression	IMMUNE	IMM	HIV Infections	2	2q21	CXCR4	136588388	136592195		Su, B.  et al. 2000	11175286				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1			CDC GDPinfo	7852	Hs.421986			European journal of human genetics. 2000 Dec;8(12):975-9	Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations.		162643	24187	2	2000	From these data, we estimated the risk of AIDS onset (relative hazard, RH) of each population. This survey shows that the substantial allele frequency differences of each of these mutations translate into an extensive variation in relative hazards for AIDS in worldwide populations. However, no evidence of natural selection against the mutant gene carriers is detected.	Cohort 2341 individuals without any known history of HIV-1 infection and AIDS symptoms from 70 worldwide populations 										
120068		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	2	2q21	CXCR4	136588388	136592195		Mazzucchelli, R.  et al. 2001	11693435				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1			CDC GDPinfo	7852	Hs.421986			Journal of biological regulators and homeostatic agents. 2001 Jul-Sep;15(3):265-71	Role of CCR5, CCR2 and SDF-1 gene polymorphisms in a population of HIV-1 infected individuals		162643	24188	2	2001	Taken together, our results indicate that genetic background involving CCR5, CCR2 and SDF-1 alleles may play a limited role in the natural history of HIV-1 infection.	Case:112 subjects with a typical course of HIV-1 infection;Control:117 healthy controls										
120064		HIV	INFECTION	INF	HIV Infections	2	2q21	CXCR4	136588388	136592195		Brumme, Z. L.  et al. 2005	15995960				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1		British Columbia	CDC GDPinfo	7852	Hs.421986			The Journal of infectious diseases. 2005 Aug;192(3):466-74	Molecular and clinical epidemiology of CXCR4-using HIV-1 in a large population of antiretroviral-naive individuals.		162643	15959	2	2005	 Baseline CD4 cell count, pVL, HIV-1 V3 sequence, and CCR5 Delta 32 genotype were the strongest determinants of CXCR4-using HIV-1 in this population. After adjustment for baseline parameters, the presence of X4 variants before initiation of highly active antiretroviral therapy was not independently associated with a poorer outcome of therapy.		antiretroviral									
120065		asthma	IMMUNE	IMM	HIV Infections	2	2q21	CXCR4	136588388	136592195		Li, C.  et al. 2005	15787642				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1	Chinese	China	CDC GDPinfo	7852	Hs.421986			International journal of immunogenetics. 2005 Apr;32(2):99-106	Distribution of human chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms and haplotypes of the CC chemokine receptor 5 (CCR5) promoter in Chinese people, and the effects of CCR5 haplotypes on CCR5 expression.		162643	20882	2	2005	Therefore, this study not only reports the frequencies for the CX(3)CR1 and CCR5 promoter haplotypes in a Chinese population living in Taiwan, but also identifies a statistical link between the P1/P1 haplotype and the elevated CCR5 expression levels in the study group.	Cohort 96 HIV-negative Chinese individuals Taiwan 										
120059	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	X	Xq13	CXCR3	70752490	70755092	n	Kato H et al. 2000	11196695				Chemokine (C-X-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001504.1	Japanese	Japan	Tsuchiya N	2833	Hs.198252			Genes and immunity. 2000 Jun;1(5):330-7			600894	2918	1	2000		Case:146; Control:242										
120060	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	X	Xq13	CXCR3	70752490	70755092		Cheong, H. S.  et al. 2005	16043121				Chemokine (C-X-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001504.1		Korea	CDC GDPinfo	2833	Hs.198252			Biochemical and biophysical research communications. 2005 Sep;334(4):1219-25	CXCR3 polymorphisms associated with risk of asthma.		600894	9649	2	2005												
120062		HIV/SIV infection	INFECTION	INF	HIV Infections	2	2q21	CXCR4	136588388	136592195		Puissant B 2003	12879309				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1			KGB	7852	Hs.421986			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1~~~ CCR2 and CXCR4 genes with regard to HIV/SIV infection.		162643	6556	1	2003												
120056	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction	17	17p13	CXCL16	4583580	4589863		Lundberg, G. A.  et al. 2005	15836657				Chemokine (C-X-C motif) ligand 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022059.1			CDC GDPinfo	58191	Hs.592117			Journal of internal medicine. 2005 May;257(5):415-22	Severity of coronary artery stenosis is associated with a polymorphism in the CXCL16/SR-PSOX gene.		605398	9648	2	2005	 The present work provides evidence that CXCL16 is involved in processes leading to enhanced stenosis in atherosclerotic coronary arteries.	Control:387 sex- and age-matched controls;Case:387 unselected survivors of a first myocardial infarction aged <60 years:Cohort:468 patients undergoing percutaneous transluminal coronary angioplasty with stent implant										
120057		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	4	4q21	CXCL6	74921276	74923341	ns	Relton CL 2004	15060097	1561C-->T			Chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002993.2	UK	Great Britain	KGB	6372	Hs.164021			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		138965	5361	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:208; Control:600										
120058	N	systemic lupus erythematosus	IMMUNE	IMM	Rheumatic Diseases	X	Xq13	CXCR3	70752490	70755092	n	Kato H et al. 2000	11196695				Chemokine (C-X-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001504.1	Japanese	Japan	Tsuchiya N	2833	Hs.198252			Genes and immunity. 2000 Jun;1(5):330-7			600894	2917	1	2000		Case:80; Control:242										
120052		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Promrat, K.  et al. 2003	12557141				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Gastroenterology. 2003 Feb;124(2):352-60	Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C		600835	25892	2	2003	 In this cohort, the frequency of CCR5Delta32 homozygosity in patients with hepatitis C was similar to controls. The high prevalence of CCR5Delta32 homozygosity in the hepatitis C virus patients of the earlier study likely reflects resistance to human immunodeficiency virus infection in hemophiliacs rather than a susceptibility to hepatitis C virus infection. Expression of CCR5 and RANTES may be important in the modulation of hepatic inflammation and response to interferon therapy in chronic hepatitis C.	Control:2380 blood donors;Case:417 patients with liver diseases (339 with hepatitis C)										
120053		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	10	10q11.1	CXCL12	44185610	44200548		Liu, H.  et al. 2004	15319853				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			The Journal of infectious diseases. 2004 Sep;190(6):1055-8	Analysis of genetic polymorphisms in CCR5, CCR2, stromal cell-derived factor-1, RANTES, and dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin in seronegative individuals repeatedly exposed to HIV-1.		600835	25893	2	2004	The frequency of homozygous C-C chemokine receptor (CCR) 5- Delta 32 was higher in ES than in HIV-1-seropositive individuals. However, the CCR5-59029A, CCR2-64I, stromal cell-derived factor (SDF)-1-3'A, RANTES (regulated on activation, normally T cell-expressed and -secreted)-403A, and RANTES-28G polymorphisms were not associated with resistance to HIV-1 infection. Furthermore, we identified novel variants in the DC-SIGN (dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin) repeat region and observed that heterozygous DC-SIGN reduced the risk of HIV-1 infection.	Case:316 HIV-1-seropositive individuals;Control:425 HIV-1-seronegative individuals;Case:94 repeatedly exposed seronegative (ES) individuals										
120054		HIV infection	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Roman, F.  et al. 2002	12032878				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Caucasian	Germany	CDC GDPinfo	6387	Hs.522891			HIV clinical trials. 2002 May-Jun;3(3):195-201	Prevalence of HIV co-receptor polymorphisms in HIV-infected patients and uninfected volunteers in Luxembourg.		600835	25894	2	2002	 Overall, allele frequencies were comparable to frequencies reported in previous studies in Caucasian populations.	Control:158 uninfected, healthy volunteers;Case:288 HIV-1-infected patients:Luxembourg										
120049		HIV	INFECTION	INF	Disease Progression|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		De Pinho Lott Carvalhaes, F. A.  et al. 2004	15754978				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Indian	Brazil|Japan	CDC GDPinfo	6387	Hs.522891			Human biology; an international record of research. 2004 Aug;76(4):643-6	Distribution of CCR5-delta32, CCR2-64I, and SDF1-3'A mutations in populations from the Brazilian Amazon region.		600835	24185	2	2004	The results suggest that Amerindians may be genetically more susceptible to HIV-1 infection and disease progression than the other human groups studied.	Cohort individuals of the urban population of Belem and in Afro-Brazilians, Amerindians, and Japanese immigrants Para, Brazil 										
120050		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Apostolakis, S.  et al. 2005	16286055				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		Greece	CDC GDPinfo	6387	Hs.522891			Journal of clinical virology. 2005 Dec;34(4):310-4	Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population.		600835	24186	2	2005												
120051		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Simeoni, E.  et al. 2004	15302103				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			European heart journal. 2004 Aug;25(16):1438-46	Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis.		600835	25891	2	2004	 RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers. The association was enhanced in smokers and ACS, conditions where platelet activation and inflammation predominate. RANTES A-403 may increase genetic susceptibility to CAD.	Case coronary artery disease patients from the LUdwigshafen Risk and Cardiovascular health (LURIC):cohort;Control controls from the LUdwigshafen Risk and Cardiovascular health (LURIC) cohort										
120046		HIV disease progression	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Lathey, J. L.  et al. 2001	11709782				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			The Journal of infectious diseases. 2001 Dec;184(11):1402-11	Associations of CCR5, CCR2, and stromal cell-derived factor 1 genotypes with human immunodeficiency virus disease progression in patients receiving nucleoside therapy.		600835	24182	2	2001	The SDF-1 homozygous 3'A variant was related to more-rapid disease progression, and CCR5 Delta32 was associated with reduced rates of hazard for disease progression in nucleoside-treated subjects.	Cohort 354 human immunodeficiency virus type 1 positive subjects who were being treated with nucleosides 										
120047		HIV	INFECTION	INF	HIV Infections|AIDS Dementia Complex|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Singh, K. K.  et al. 2003	14624371				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			The Journal of infectious diseases. 2003 Nov;188(10):1461-72	Genetic influence of CCR5, CCR2, and SDF1 variants on human immunodeficiency virus 1 (HIV-1)-related disease progression and neurological impairment, in children with symptomatic HIV-1 infection.		600835	24183	2	2003	Thus, in children with the CCR5-wt/wt genotype, variants at CCR5-59029 have the broadest impact on disease progression. These data suggest that, in children, host genetics plays an important role in HIV-1-related disease progression and neurological impairment.	Cohort 1,049 children with symptomatic HIV-1 infection who participated in 2 clinical trials US 										
120043		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR		10	10q11.1	CXCL12	44185610	44200548		Ye, J. J.  et al. 2003	15639953				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Chinese		CDC GDPinfo	6387	Hs.522891			Yi chuan. 2003 Nov;25(6):655-9	[Distribution of the HIV/AIDS Associated CCR5Delta32,CCR2b-64I,SDF1-3'A Allelesin Chinese Dai and Chingpaw Populations from Dehong Autonomous Prefecture of Yunnan Province.]		600835	24179	2	2003	The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3'A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3'A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.	Cohort 101/113 Dai (n=101) and Chingpaw (n=113) individuals Yunnan Province, China 										
120044		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity	10	10q11.1	CXCL12	44185610	44200548		Geskus, R. B.  et al. 2005	15980693				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2005 Jul;39(3):321-6	Causal pathways of the effects of age and the CCR5-Delta32, CCR2-64I, and SDF-1 3'A alleles on AIDS development.		600835	24180	2	2005	 Age and the CCR5-Delta32 deletion and CCR2-64I mutation influence AIDS progression by affecting CD4 and HIV-1 RNA. The SDF-1 3'A allele increases the AIDS risk, but this effect is countered by its effect on CD4 and HIV-1 RNA level.											
120045		HIV	INFECTION	INF		10	10q11.1	CXCL12	44185610	44200548		Wang, X. H.  et al. 2005	16261210				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Chinese		CDC GDPinfo	6387	Hs.522891			Zhonghua shi yan he lin chuang bing du xue za zhi. 2005 Sep;19(3):256-9	[Effect of CCR5delta32, CCR5m303, CCR2-64I and SDF1-3'A gene polymorphism on the prognosis of Chinese HIV-1 carriers]		600835	24181	2	2005	 CCR2-64I gene mutation may not significantly affect virus load of Chinese HIV-1 carriers, nor it affect the incubation period of HIV-1 carriers. SDF1-3'A gene mutation can decrease virus load, but it may not prolong the incubation period of HIV-1 carriers.											
120040		HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Singh, K. K.  et al. 2004	15076247				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		United States	CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2004 Mar;35(3):309-13	Prevalence of Chemokine and Chemokine Receptor Polymorphisms in Seroprevalent Children With Symptomatic HIV-1 Infection in the United States		600835	24176	2	2004	These analyses show that the distribution of chemokine receptor and chemokine genetic polymorphisms varies significantly across race/ethnicity subgroups of HIV-1-infected children in the United States.	Cohort 1,057 children with symptomatic HIV-1 infection US 										
120041		HIV	INFECTION	INF		10	10q11.1	CXCL12	44185610	44200548		Ryabov, G. S.  et al. 2004	15140377				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Russian		CDC GDPinfo	6387	Hs.522891			Genetic testing. 2004 ;8(1):73-6	Prevalence of alleles associated with HIV resistance in Russia.		600835	24177	2	2004	A significant linkage disequilibrium (p = 0.0034) between CCR2-64I and SDF1-3'A alleles was observed.	Cohort 171 HIV-1-seronegative individuals Moscow 										
120042		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548			15575507				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Ukrainian, Russian, Belarusian	Byelarus|Russia|Ukraine	CDC GDPinfo	6387	Hs.522891			Genetika. 2004 Oct;40(10):1394-401	[Distribution of the HIV-1 resistance-conferring alleles (CCR5delta32, CCR2-64I, and SDF1 3'A) in Russian, Ukrainian, and Belarusian populations]		600835	24178	2	2004	The data on the allele frequencies and the relative hazard values in Russians, Ukrainians and Belarussians can be used as the predictors of AIDS onset and progression rate in HIV-1-infected individuals from the populations studied.	Cohort HIV-infected individuals from three native population samples from Russia, Ukraine, and Belarus 										
120037		human T lymphotropic virus type I infection	INFECTION	INF	HTLV-I Infections	10	10q11.1	CXCL12	44185610	44200548		Hisada, M.  et al. 2002	12001056				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		Jamaica	CDC GDPinfo	6387	Hs.522891			The Journal of infectious diseases. 2002 May;185(9):1351-4	Chemokine receptor gene polymorphisms and risk of human T lymphotropic virus type I infection in Jamaica.		600835	24173	2	2002	These findings suggest that CCR2-64I, or alleles in linkage disequilibrium with it, may affect the risk of HTLV-I infection in a recessive manner.	Case:116 HTLV-I positive persons of African descent:Jamaica;Control:126 HTLV-I negative persons of African descent	human T lymphotropic virus									
120038		liver transplantation, immunosuppression after	IMMUNE	IMM		10	10q11.1	CXCL12	44185610	44200548		Schroppel, B.  et al. 2002	12201365				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			American journal of transplantation. 2002 Aug;2(7):640-5	The impact of polymorphisms in chemokine and chemokine receptors on outcomes in liver transplantation.		600835	24174	2	2002	In conclusion, CCR2-641, CCR5delta32, and SDF1-3'A genotypes did not influence the risk for acute rejection or graft survival. However, in liver allograft recipients SDF1-3'A is significantly associated with higher mortality.	Cohort 207 liver transplant recipients 										
120039		HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous	10	10q11.1	CXCL12	44185610	44200548		Wang, F. S.  et al. 2003	12571520				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Chinese	China	CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2003 Feb;32(2):124-30	Population survey of CCR5 delta32, CCR5 m303, CCR2b 64I, and SDF1 3'A allele frequencies in indigenous Chinese healthy individuals, and in HIV-1-infected and HIV-1-uninfected individuals in HIV-1 risk groups.		600835	24175	2	2003	Our finding is the first reporting that there is likely no effect of the examined polymorphisms in our study on HIV-1 transmission in the Chinese Han population, However, the genetic effects of these and other AIDS-modifying polymorphisms on the pathogenesis and clinical outcome of HIV-1/AIDS diseases is under investigation in Chinese populations.	Cohort 3165 indigenous healthy subjects representing eight ;Case:330 HIV-1 infected (86 subjects infected by sexual transmission and 198 subjects infected by HIV-1-contaminated blood or by sharing injection equipment; the remaining 46 subjects said nothing about HIV-1 transmission);Control:474 HIV-1-uninfected Han Chinese belonging to one of										
120034		HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Du, Q.  et al. 2000	11860823				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Caucasian	China	CDC GDPinfo	6387	Hs.522891			Zhonghua liu xing bing xue za zhi. 2000 Dec;21(6):413-6	[Polymorphisms of chemokine receptor alleles influencing genetic susceptibility to HIV-1 infection in Mongolia population in China]		600835	24170	2	2000	 Compared with the Caucasian American, there were higher frequencies of CCR2b-64I and SDF1-3'A alleles and lower frequency of CCR5-Delta32 allele found in Mongolian population while the factors responsible for the variation of genetic polymorphisms in different ethnic populations need to be clarified.	Cohort 134 Mongolian subjects 										
120035		HIV infection	INFECTION	INF	Hepatitis, Viral, Human|Flaviviridae Infections|HIV Infections|Viremia	10	10q11.1	CXCL12	44185610	44200548		Tillmann, H. L.  et al. 2002	11964548				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			AIDS (London, England). 2002 Mar;16(5):808-9	Chemokine receptor polymorphisms and GB virus C status in HIV-positive patients.		600835	24171	2	2002	On the basis of our findings we can exclude the possibility that either the chemokine receptor polymorphisms or the SDF-1 polymorphism explain the beneficial outcome of GBV-C infected patients with HIV infection	Cohort 288 HIV-positive patients typed for CCR-5 and SDF-1 Cohort 293 HIV-positive patients typed for CCR-2 	GB virus C									
120036		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Ramana, G. V.  et al. 2001	11988632				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		India	CDC GDPinfo	6387	Hs.522891			Journal of genetics. 2001 Dec;80(3):137-40	Distribution of HIV-1 resistance-conferring polymorphic alleles SDF-1-3'A, CCR2-64I and CCR5-Delta32 in diverse populations of Andhra Pradesh, South India.		600835	24172	2	2001	The mean number of mutant alleles (for the three loci together) carried by each individual varies from 0.475 (in Vizag Brahmins) to 0.959 (in Bohra Muslims). The estimated relative hazard values for the populations, computed from the three-locus genotype data, are comparable to those from Africa and Southeast Asia, where AIDS is known to be widespread.	Cohort 525 healthy individuals without any history of HIV-1 infection from 11 diverse populations Andhra Pradesh, South India 										
120031		HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Ioannidis, J. P.  et al. 2001	11694103				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Annals of internal medicine. 2001 Nov;135(9):782-95	Effects of CCR5-Delta32, CCR2-64I, and SDF-1 3'A Alleles on HIV-1 Disease Progression: AnInternational Meta-Analysis of Individual-Patient Data		600835	24167	2	2001	 The CCR5-Delta32 and CCR2-64I alleles had a strong protective effect on progression of HIV-1 infection, but SDF-1 3'A homozygosity carried no such protection.	Studies 19 prospective cohort studies and case-control studies United States, Europe, and Australia 										
120032		HIV; myocardial infarction	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q11.1	CXCL12	44185610	44200548		Wang, F.  et al. 2001	11729511				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Chinese	China	CDC GDPinfo	6387	Hs.522891			Chinese medical journal. 2001 Nov;114(11):1162-6	Genotypes and polymorphisms of mutant CCR5-delta 32, CCR2-64I and SDF1-3' a HIV-1 resistance alleles in indigenous Han Chinese		600835	24168	2	2001	 The CCR5-delta 32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese. The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791) in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.	Cohort 1251 subjects (915 men and 336 women) aged 15-80 years(none HIV-1 positive) 										
120033		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Wang, F.  et al. 2000	11860793				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Chinese	China	CDC GDPinfo	6387	Hs.522891			Zhonghua liu xing bing xue za zhi. 2000 Aug;21(4):256-60	[Distribution of HIV resistance CCR5-delta 32, CCR2-64 I and SDF1-3'A alleles and their polymorphisms in the Han population in China]		600835	24169	2	2000	 Our data was the first findings on the frequency and polymorphism of CCR5(Delta)32, CCR2-64I and SDF1-3'A alleles in indigenous Han population in China which implied that the indigenous Han people might have a higher genetic susceptibility to the infection of sexually transmitted HIV-1 (R-5) strain. Further study is needed to clarify the significance of higher frequency of CCR2-64I and SDF1-3'A alleles in Han population.	Cohort 1267 subjects, of which consisted 98.7% (1 251/1 267) Han people 										
120028		HIV infection	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Sei, S.  et al. 2001	11504955				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			AIDS (London, England). 2001 Jul;15(11):1343-52	Protective effect of CCR5 delta 32 heterozygosity is restricted by SDF-1 genotype in children with HIV-1 infection.		600835	20879	2	2001	 In pediatric AIDS, the protective effect of CCR5 wt/Delta 32 is more pronounced in early years of infection and appears to be abrogated by the SDF1-3'A genotype.	Cohort 127 (58 Caucasians, 60 African-Americans and nine Hispanics) perinatally HIV-1-infected children 										
120029		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q11.1	CXCL12	44185610	44200548		Mazzucchelli, R.  et al. 2001	11693435				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Journal of biological regulators and homeostatic agents. 2001 Jul-Sep;15(3):265-71	Role of CCR5, CCR2 and SDF-1 gene polymorphisms in a population of HIV-1 infected individuals		600835	20880	2	2001	Taken together, our results indicate that genetic background involving CCR5, CCR2 and SDF-1 alleles may play a limited role in the natural history of HIV-1 infection.	Case:112 subjects with a typical course of HIV-1 infection;Control:117 healthy controls										
120030		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q11.1	CXCL12	44185610	44200548		Vicenzi, E.  et al. 2000	11023492				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			The Journal of infectious diseases. 2000 Nov;182(5):1579-80	CCR2-64I polymorphism, syncytium-inducing human immunodeficiency virus strains, and disease progression.		600835	24166	2	2000	No correlation was found between SDF-1 genotype and viral phenotype	Case:191/40 HIV infected subjects randomly selected from the San Francisco Men's Health Study (n=191) and men from the Milan cohort (n=40)										
120024		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Ma, L.  et al. 2005	16123688				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		Cameroon	CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2005 Sep;40(1):89-95	Distribution of CCR2-64I and SDF1-3'A alleles and HIV status in 7 ethnic populations of Cameroon.		600835	20875	2	2005												
120025		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q11.1	CXCL12	44185610	44200548		Passam, A. M.  et al. 2005	16286054				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Journal of clinical virology. 2005 Dec;34(4):302-9	CCR2-64I and CXCL12 3'A alleles confer a favorable prognosis to AIDS patients undergoing HAART therapy.		600835	20876	2	2005	 Our results suggest that patients carrying either CCR2-64I or CXCL12 3'A have a more favorable prognosis during HAART treatment.		antiretroviral									
120027		HIV	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Vidal, F.  et al. 2005	16249700				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		Spain	CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2005 Nov;40(3):276-9	Lack of association of SDF-1 3'A variant allele with long-term nonprogressive HIV-1 infection is extended beyond 16 years.		600835	20878	2	2005												
120021	N	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Wang, C.  et al. 2004	15021309				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		600835	20872	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
120022		HIV infection; hepatitis C infection	INFECTION	INF	Hepatitis C, Chronic|HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Woitas, R. P.  et al. 2002	12215924				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Deutsche medizinische Wochenschrift (1946). 2002 Sep;127(36):1807-12	[Do polymorphisms of the SDF1 and CCR2b genes modify the course of hepatitis C or HIV/HCV co-infection?]		600835	20873	2	2002	 These results suggest that the SDF1 - 3'A and CCR2b-V64I mutations do not affect the course of HCV and HIV/HCV infection in the same manner as does the CCR5-Delta32 mutation.	Control:112 heatlhy blood donors;Case:130/105/153 patients with HIV/HCV coinfection (n = 130), HIV infection (n = 105), HCV infection (n = 153)										
120023		HIV; HIV disease progression	INFECTION	INF	Acquired Immunodeficiency Syndrome	10	10q11.1	CXCL12	44185610	44200548		Lewandowska, M.  et al. 2002	12436194				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Polish	Poland	CDC GDPinfo	6387	Hs.522891			Journal of human genetics. 2002 ;47(11):585-9	Distribution of two HIV-1-resistant polymorphisms (SDF1-3'A and CCR2-64I alleles) in the Polish population		600835	20874	2	2002	The different pattern of prevalence of the SDF1-3'A and CCR2-64I alleles in Poland might suggest that the CCR2-64I allele was spread much earlier than the SDF1-3'A allele in the population of Poland.	Cohort blood donors from 16 provinces, covering the entire territory of Poland Poland 										
120018		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Razmkhah, M.  et al. 2005	15955592				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Iranian		CDC GDPinfo	6387	Hs.522891			Lung cancer (Amsterdam, Netherlands). 2005 Sep;49(3):311-5	Stromal cell-derived factor-1 (SDF-1) gene and susceptibility of Iranian patients with lung cancer.		600835	15957	2	2005	We conclude that  AA and AG genotypes of SDF-1 may be considered as factors increasing the susceptibility of Iranian patients to lung cancer.											
120019		HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Modi, W. S.  et al. 2005	16177829				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		United States	CDC GDPinfo	6387	Hs.522891			Genes and immunity. 2005 Dec;6(8):691-8	Haplotype analysis of the SDF-1 (CXCL12) gene in a longitudinal HIV-1/AIDS cohort study.		600835	15958	2	2005												
120020		HIV	INFECTION	INF	Disease Susceptibility	10	10q11.1	CXCL12	44185610	44200548		Koning, F. A.  et al. 2004	15166527				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			AIDS (London, England). 2004 May;18(8):1117-26	Correlates of resistance to HIV-1 infection in homosexual men with high-risk sexual behaviour		600835	17159	2	2004	 Low in vitro R5 susceptibility of cells from the HRSN men was due to beta-chemokine mediated inhibition of virus replication. The presence of HIV-1 specific cytotoxic T cells in both HRSN and pre-SC participants may signify exposure to the virus rather than protection from infection. Host genetic characteristics and other factors affecting innate immunity may contribute to differential resistance to HIV-1 infection among exposed seronegative individuals.	Control:15 HIV-negative pre-seroconversion homosexual men from the same Amsterdam Cohort Study;Case:29 high-risk seronegative homosexual men from the same Amsterdam Cohort Study										
120015	Y	atherosclerosis	CARDIOVASCULAR	CARD	HIV Infections|Carotid Artery Diseases	10	10q11.1	CXCL12	44185610	44200548		Coll, B.  et al. 2005	16227796				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			AIDS (London, England). 2005 Nov;19(16):1877-83	The stromal derived factor-1 mutated allele (SDF1-3'A) is associated with a lower incidence of atherosclerosis in HIV-infected patients.		600835	9646	2	2005	 The SDF1-3'A allele is associated with a lower presence of subclinical carotid atherosclerosis in an HIV-infected population.											
120016	Y	HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Petersen, D. C.  et al. 2005	16284526				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	African	South Africa	CDC GDPinfo	6387	Hs.522891			Journal of acquired immune deficiency syndromes (1999). 2005 Dec;40(5):521-6	Risk for HIV-1 Infection Associated With a Common CXCL12 (SDF1) Polymorphism and CXCR4 Variation in an African Population.		600835	9650	2	2005												
120017	N	diabetes, type 1; thyroid disease, autoimmune	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Kawasaki, E.  et al. 2004	15699497				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Annals of the New York Academy of Sciences. 2004 Dec;1037:79-83	Stromal cell-derived factor-1 chemokine gene variant in patients with type 1 diabetes and autoimmune thyroid disease.		600835	15956	2	2004	These results suggest that the SDF1-3'A variant is not associated with genetic susceptibility to type 1 diabetic patients and AITD.	Control:106 healthy subjects;Case:54/75/137 type 1 diabetic patients with autoimmune thyroid disease (n=54) and without (n=75) and nondiabetic patients with autoimmune thyroid disease										
120011		HIV	INFECTION	INF		10	10q11.1	CXCL12	44185610	44200548		Kimura, R.  et al. 2002	11950063				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Journal of human genetics. 2002 ;47(3):117-21	Anthropological implication of the SDF1-3'A allele distribution in Southeast Asia and Melanesia		600835	9642	2	2002	The geographic distribution of the SDF1-3'A frequencies in the Pacific region was interpreted by an admixture of Austronesians with the aboriginal people in situ. In addition, this study found high proportions of SDF1-3'A/3'A homozygous individuals in several populations, which will enable us to evaluate roles of the SDF1 genotypes in SDF-1 expression.	Cohort populations of mainland Southeast Asia 										
120012		HIV	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Watanabe, M. A.  et al. 2003	12860456				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			Microbial pathogenesis. 2003 Jul;35(1):31-4	SDF-1 gene polymorphisms and syncytia induction in Brazilian HIV-1 infected individuals.		600835	9643	2	2003	Our data indicate that there is no correlation between SDF-1 alleles and syncytium inducing HIV.	Control:60 non-HIV blood donors;Case:62 HIV infected patients										
120013	N	diabetes, type 1	IMMUNE	IMM		10	10q11.1	CXCL12	44185610	44200548		Shigihara, T.  et al. 2003	14679085				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Japanese		CDC GDPinfo	6387	Hs.522891			Annals of the New York Academy of Sciences. 2003 Nov;1005:328-31	Stromal cell-derived factor-1 chemokine gene polymorphism is not associated with onset age of Japanese type 1 diabetes.		600835	9644	2	2003	The SDF-1 gene polymorphism was not associated with onset age (or onset pattern) of type 1 diabetes in Japanese. Further study is necessary to conclude whether SDF-1 gene polymorphism affects the onset age in type 1 diabetes in general.	Control:270 healthy subjects;Case:298 Japanese type 1 diabetic patients										
120008	N	diabetes, type 1	IMMUNE	IMM		10	10q11.1	CXCL12	44185610	44200548	n	Shigihara T et al. 2003	14679085				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Japanese		Y Wang	6387	Hs.522891			Annals of the New York Academy of Sciences. 2003 Nov;1005:328-31	Stromal cell-derived factor-1 chemokine gene polymorphism is not associated with onset age of Japanese type 1 diabetes.		600835	5366	1	2003	The SDF-1 gene polymorphism was not associated with onset age (or onset pattern) of type 1 diabetes in Japanese. Further study is necessary to conclude whether SDF-1 gene polymorphism affects the onset age in type 1 diabetes in general.	Control:270 healthy subjects;Case:298 Japanese type 1 diabetic patients										
120009	Y	increased perinatal immunodeficiency virus type 1 transmission	OTHER	OTH	HIV Infections|Disease Progression|Genetic Predisposition to Disease|	10	10q11.1	SDF1	44185610	44200548		John GC et al. 2000	10823884				chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647204			KGB	6387	Hs.522891			Journal of virology. 2000 Jun;74(12):5736-9	Maternal SDF1 3'A polymorphism is associated with increased perinatal human immunodeficiency virus type 1 transmission.		600835	5367	1	2000												
120010	Y	hematopoietic progenitor cells, mobilization of	HEMATOLOGICAL	HEM	Lymphoma|Hodgkin Disease|Multiple Myeloma|Hematologic Neoplasms	10	10q11.1	CXCL12	44185610	44200548		Benboubker, L.  et al. 2001	11328308				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			British journal of haematology. 2001 Apr;113(1):247-50	Association between the SDF1-3'A allele and high levels of CD34(+) progenitor cells mobilized into peripheral blood in humans.		600835	9641	2	2001	This is the first report showing the involvement of genetic factors for HPC mobilization in humans and suggests a significant role for SDF-1 in this process.	Cohort 63 patients with malignancy 										
120005	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10q11.1	CXCL12	44185610	44200548		Dubois-Laforgue D et al. 2001	11334429				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			KGB	6387	Hs.522891			Diabetes. 2001 May;50(5):1211-3	A common stromal cell-derived factor-1 chemokine gene variant is associated with the early onset of type 1 diabetes.		600835	5363	1	2001												
120006	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10q11.1	CXCL12	44185610	44200548		Ide A et al. 2003	14522095				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Japanese	Japan	Y Wang	6387	Hs.522891			Human immunology. 2003 Oct;64(10):973-8	Stromal-cell derived factor-1 chemokine gene variant is associated with type 1 diabetes age at onset in Japanese population		600835	5364	1	2003												
120007	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10q11.1	CXCL12	44185610	44200548		Dubois-Laforgue D et al. 2001	11334429				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			Y Wang	6387	Hs.522891			Diabetes. 2001 May;50(5):1211-3	A common stromal cell-derived factor-1 chemokine gene variant is associated with the early onset of type 1 diabetes		600835	5365	1	2001												
120001		kidney transplant rejection	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Abdi, R.  et al. 2002	11856781				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601470	24164	2	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients 										
120002		HIV infection	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Roman, F.  et al. 2002	12032878				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3	Caucasian	Germany	CDC GDPinfo	1524	Hs.78913			HIV clinical trials. 2002 May-Jun;3(3):195-201	Prevalence of HIV co-receptor polymorphisms in HIV-infected patients and uninfected volunteers in Luxembourg.		601470	24165	2	2002	 Overall, allele frequencies were comparable to frequencies reported in previous studies in Caucasian populations.	Control:158 uninfected, healthy volunteers;Case:288 HIV-1-infected patients:Luxembourg										
120003		heart transplant complications	OTHER	OTH	Acute Disease	3	3p21	CX3CR1	39279988	39296531			16314800				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Transplantation. 2005 Nov;80(9):1309-15	CCR5, RANTES and CX3CR1 Polymorphisms: PossibleGenetic Links with Acute Heart Rejection		601470	25890	2	2005	 This exploratory study in heart transplantation suggests that the outcomes of EAR and LAR episodes may be influenced by genetic variant interactions such as CX3CR1 249I*CCR5 No-E and CCR5 E*RANTES -403A.											
119998		HIV	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Brumme, Z. L.  et al. 2003	12545080				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			AIDS (London, England). 2003 Jan;17(2):201-8	Influence of polymorphisms within the CX3CR1 and MDR-1 genes on initial antiretroviral therapy response		601470	20869	2	2003	 Polymorphisms in MDR-1 and CX3CR1 may be associated with accelerated virological and immunological therapy failure, respectively.	Cohort 461 HIV-infected, antiretroviral-na????ve individuals British Columbia, Canada 										
119999	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Bayley, J. P.  et al. 2003	12889997				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Tissue antigens. 2003 Aug;62(2):170-4	Association between polymorphisms in the human chemokine receptor genes CCR2 and CX3CR1 and rheumatoid arthritis.		601470	20870	2	2003	We found no evidence for a significant independent role for the CCR2 and CX3CR1 variants in the susceptibility to or severity of rheumatoid arthritis.	Cohort 282/101 consecutive rheumatoid arthritis patients from a rheumatology outpatient clinic (n=282) and female rheumatoid arthritis patients (n=101) 										
120000		HIV	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Vidal, F.  et al. 2005	16284527				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3	Spanish	Spain	CDC GDPinfo	1524	Hs.78913			Journal of acquired immune deficiency syndromes (1999). 2005 Dec;40(5):527-31	Spanish HIV-1-Infected Long-Term Nonprogressors of More Than 15 Years Have an Increased Frequency of the CX3CR1 249I Variant Allele.		601470	20871	2	2005	 CX3CR1 249I variant allele is more frequent in Spanish HIV-1-infected LTNPs of >15 years. This effect is independent of the presence of the CCR5Delta32 allele.											
119995	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Acute Disease|Genetic Predisposition to Disease|Inflammation	3	3p21	CX3CR1	39279988	39296531		Niessner, A.  et al. 2005	15886814	V249I and T280M			Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Thrombosis and haemostasis. 2005 May;93(5):949-54	Opposite effects of CX3CR1 receptor polymorphisms V249I and T280M on the development of acute coronary syndrome. A possible implication of fractalkine in inflammatory activation.		601470	9640	2	2005	In conclusion, I249 and M280 have opposite effects on the occurrence of ACS. The presence of I249 not 	Cohort 1,152 patients with suspected coronary artery disease 										
119996		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	3	3p21	CX3CR1	39279988	39296531		Rios, D. L.  et al. 2005	16026776				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):138-46	Endothelial nitric oxide synthase and fractalkine chemokine receptor polymorphisms on angiographically assessed coronary atherosclerosis.		601470	12882	2	2005	 The -786T > C was the polymorphism associated with severe CAD in this study. Haplotype analyses can be extremely helpful in unraveling the influence of different markers within a gene.											
119997		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Disease Progression|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Faure, S.  et al. 2003	12626895				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3		France	CDC GDPinfo	1524	Hs.78913			Journal of acquired immune deficiency syndromes (1999). 2003 Mar;32(3):335-7	Deleterious genetic influence of CX3CR1 genotypes on HIV-1 disease progression.		601470	15954	2	2003	These results may explain the conflicting results published on the impact of CX3CR1 polymorphism in seroconverters.	Cohort HIV patients of the French SEROCO cohort 										
119992	Y	cardiovascular disease; cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Infarction|Myocardial Infarction|Arteriosclerosis|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Lavergne, E.  et al. 2005	15681302				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Arteriosclerosis, thrombosis, and vascular biology. 2005 Apr;25(4):847-53	Adverse associations between CX3CR1 polymorphisms and risk of cardiovascular or cerebrovascular disease.		601470	9637	2	2005	 The rare CX3CR1 alleles were associated with an increased risk of BI and with reduced frequency of cardiovascular history. We propose that the extra adhesion of monocytes observed in individuals carrying rare alleles of CX3CR1 may favor mechanisms leading to stroke.	Case cerebrovascular disease cases of the GENIC case-control study of brain infarction;Control controls of the GENIC case-control study of brain:infarction										
119993	N	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	3	3p21	CX3CR1	39279988	39296531		Muhlbauer, M.  et al. 2005	15809764				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Oncology reports. 2005 May;13(5):957-63	Lack of association between the functional CX3CR1 polymorphism V249I and hepatocellular carcinoma.		601470	9638	2	2005	In summary, these results suggest that the patho-physiological role of individual chemokines in carcinogenesis may vary and that the functional CX3CR1 polymorphism V249I is no genetic risk factor for HCC. However, additional independent studies in HCC patients with different ethnic background will be needed to confirm the present study and to elucidate the functional role of CX3CR1 and its polymorphism V249I in chronic liver disease and hepatocarcinogenesis.	Case:183 hepatocellular cancer patients;Control:99 healthy controls										
119994	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CX3CR1	39279988	39296531		Singh, K. K.  et al. 2005	15871132				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			The Journal of infectious diseases. 2005 Jun;191(11):1971-80	Genetic Polymorphisms in CX3CR1 Predict HIV-1 Disease Progression in Children Independently of CD4+ Lymphocyte Count and HIV-1 RNA Load		601470	9639	2	2005	 CX3CR1 genotypes and haplotypes impact HIV-1 disease progression independently of CD4+ lymphocyte count and plasma HIV-1 RNA load, suggesting that the fundamental role of CX3CR1 in the alteration of disease progression might be the recruitment of immunomodulatory cells responsible for the control of HIV-1.	Cohort 1,055 HIV-1-infected children 										
119989		HIV	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Liu, M. X.  et al. 2003	12975017				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3	Chinese	China	CDC GDPinfo	1524	Hs.78913			Zhonghua liu xing bing xue za zhi. 2003 Jul;24(7):595-8	[Distribution of HIV-1 coreceptor CX3CR1 allelic polymorphisms in general population, HIV-1 high-risk group and HIV-1 carriers of Chinese indigenous Han and Uygur people]		601470	9634	2	2003	 I249 mutation was the sine qua non of M280 mutation, and most I249 alleles were accompanied by M280. The frequency of I249-M280 haplotype in Uygur population (13.3%) was adjacent to Caucasian people (15.8%), and that of I249-T280 haplotype (2.8%) was obviously lower than Caucasian people (12.5%); while both of them in Han people were much lower (0.9% and 2.4%). I249-M280 haplotype could accelerate AIDS progression according to Faure et al, while might be associated with HIV-1 susceptibility.	Case HIV-1 infected individuals of Chinese indigenous Han and Uygur people;Control uninfected individuals n of Chinese indigenous Han and Uygur people										
119990	Y	coronary artery disease, occlusive	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Ghilardi, G.  et al. 2004	15118174				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Stroke; a journal of cerebral circulation. 2004 Jun;35(6):1276-9	Internal carotid artery occlusive disease and polymorphisms of fractalkine receptor CX3CR1: agenetic risk factor.		601470	9635	2	2004	 The results show that the CX3CR1 M280 is an independent genetic risk factor for ICA occlusive disease and that I249 is involved in the stability of carotid plaques. Even if obtained from a relatively limited patient series, these results might have relevant implications for treatment of ICA stenosis and possibly prevention of carotid related stroke. Further prospective cross-sectional studies are needed to confirm these results.	Case:108 patients consecutively recruited for internal carotid artery occlusive disease;Control:204 subjects without internal carotid artery occlusive:disease										
119991	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	3	3p21	CX3CR1	39279988	39296531		Hattori, H.  et al. 2005	15644279	T280M and V249I			Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3	Japanese		CDC GDPinfo	1524	Hs.78913			Neuroscience letters. 2005 Feb;374(2):132-5	T280M and V249I polymorphisms of fractalkine receptor CX3CR1 and ischemic cerebrovascular disease.		601470	9636	2	2005	Our results show that these CX3CR1 gene polymorphisms are not associated with an increased risk for ischemic CVD in the Japanese population.	Case:235 Japanese patients with ischemic cerebrovascular:disease;Control:306 age- and sex-matched healthy controls										
119986	Y	atherosclerosis; coronary vascular endothelial dysfunction	CARDIOVASCULAR	CARD	Coronary Artery Disease	3	3p21	CX3CR1	39279988	39296531		McDermott, D. H.  et al. 2001	11532900				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Circulation research. 2001 Aug;89(5):401-7	Association between polymorphism in the chemokine receptor CX3CR1 and coronary vascular endothelial dysfunction and atherosclerosis.		601470	9631	2	2001	The association between CX3CR1 genotype and endothelial function was independent of established risk factors and presence of CAD by multivariate analysis (P=0.02). Thus, the CX3CR1 I249 allele is associated with decreased risk of CAD and improved endothelium-dependent vasodilation. This suggests that CX3CR1 may be involved in the pathogenesis of CAD.	Cohort 339 Caucasian individuals who underwent cardiac catheterization (n=197 with and n=142 without CAD, respectively) 										
119987	N	peripheral vascular disease	CARDIOVASCULAR	CARD	Peripheral Vascular Diseases|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Gugl, A.  et al. 2003	12535747				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Atherosclerosis. 2003 Feb;166(2):339-43	Two polymorphisms in the fracalkine receptor CX(3)CR1 are not associated with peripheral arterial disease		601470	9632	2	2003	 In this study we could not detect a difference in genotype frequencies of the V249I and T280M polymorphisms in CX(3)CR1 between PAD patients and controls. CAD concomitant with PAD was also not affected by the I- or the M-allele.	Case:522 human subjects with documented PAD;Control:522 age and sex matched controls										
119988	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Kwa, D.  et al. 2003	12646802				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3	French		CDC GDPinfo	1524	Hs.78913			AIDS (London, England). 2003 Mar;17(5):759-61	Lack of evidence for an association between a polymorphism in CX3CR1 and the clinical course of HIV infection or virus phenotype evolution.		601470	9633	2	2003	Our results contradict the observations by Faure et al. in the French cohorts, but are in agreement with observations in several north American cohorts.	Cohort 241 men in the Amsterdam Cohort of Homosexual Men with HIV 										
119983		HIV/SIV infection	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Puissant B 2003	12879309				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			KGB	1524	Hs.78913			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1, CCR2 and CXCR4 genes with regard to HIV/SIV infection.		601470	1544	1	2003												
119984	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Acute Disease|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Moatti, D.  et al. 2001	11264153				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Blood. 2001 Apr;97(7):1925-8	Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease		601470	9629	2	2001	The results show that CX3CR1 I249 is an independent genetic risk factor for coronary artery disease and that CX3CR1 may be involved in the pathogenesis of atherosclerotic disease.	Case:151 patients with acute coronary syndromes;Control:249 healthy controls										
119985		HIV infection	INFECTION	INF	HIV Infections|HIV Seropositivity|Disease Progression	3	3p21	CX3CR1	39279988	39296531		Hendel, H.  et al. 2001	11391174				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDPinfo	1524	Hs.78913			Journal of acquired immune deficiency syndromes (1999). 2001 Apr;26(5):507-11	Validation of genetic case-control studies in AIDS and application to the CX3CR1 polymorphism.		601470	9630	2	2001	we effectively observed that the genetic frequencies of some polymorphisms could vary by as much as 10% (absolute percentage) when computing them on the first 50 NP subjects enrolled, on the first 100, or on all the NPs tested (240 study subjects). This observation emphasizes the need for caution in case-control studies involving small	Control:244 HIV disease nonprogressors;Case:80 rapid HIV disease progressors from the largest case-control cohort known to date, the GRIV cohort										
119980	N	bone density	METABOLIC	MET	Body Weight	1	1q21	CTSK	149035310	149047436		Giraudeau, F. S.  et al. 2004	14753734				Cathepsin K (pycnodysostosis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000396.2	Scottish	Scotland	CDC GDPinfo	1513	Hs.632466			Journal of bone and mineral research. 2004 Jan;19(1):31-41	Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.		601105	15953	2	2004	 We discovered two intronic SNPs (8% and 9% frequency), but no common exonic SNPs (> 1% frequency), and found that three STRs at the immediate 5' end of the CTSK locus are highly polymorphic. The population frequencies of haplotypes defined by these five polymorphisms were estimated, and a cladogram was derived showing proximity of relationship and likely descent of the 30 most common CTSK haplotypes. Regression analyses revealed that approximately 39% of spine and 19% of hip rate of change in BMD was accounted for by nongenetic factors. For baseline BMD values in premenopausal women, nongenetic predictors explained 11% of the variance at the spine and 13% at the hip. Adjusted BMD values showed no statistically significant association with any of the individual CTSK polymorphisms or CTSK haplotypes.	Cohort 3,000 perimenopausal Scottish women Scotland 										
119981		pheochromocytoma	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Hippel-Lindau Disease|	10	10p11.21	CUL2	35338811	35419552		Duerr EM et al. 1999	10487688				Cullin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003591.2			KGB	8453	Hs.82919			The Journal of clinical endocrinology and metabolism. 1999 Sep;84(9):3207-11	Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.			6569	1	1999												
119982	Y	Human Renal Transplantation	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Abdi R 2002	11856781	T280M and V249I			Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			KGB	1524	Hs.78913			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601470	1543	1	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients										
119977		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Prince, J. A.  et al. 2001	11436125				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3		Sweden	CDC GDPinfo	1509	Hs.121575			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		116840	27395	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
119978	Y	cardiovascular disease; cerebrovascular disease	CARDIOVASCULAR	CARD	Brain Infarction|Myocardial Infarction	14	14q11.2	CTSG	24112563	24115306		Herrmann, S. M.  et al. 2001	11557685				Cathepsin G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001911.2			CDC GDPinfo	1511	Hs.421724			Arteriosclerosis, thrombosis, and vascular biology. 2001 Sep;21(9):1538-43	Characterization of polymorphic structure of cathepsin G gene: role in cardiovascular andcerebrovascular diseases.		116830	15952	2	2001	Our results indicate that the CTSG Ser125 allele is associated with plasma fibrinogen levels in MI patients from the ECTIM Study and with BI in the GENIC Study. Further studies should be carried out to define the underlying mechanisms.	Case cases from the Etude Cas-Temoins sur l'Infarctus du Myocarde (ECTIM Study);Case cases from the Etude du Profil Genetique de l'Infarctus Cerebral (GENIC Study);Control controls from the Etude Cas-Temoins sur l'Infarctus du Myocarde (ECTIM Study);Control controls from the Etude du Profil Genetique de l'Infarctus Cerebral (GENIC Study)										
119979	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q11.2	CTSG	24112563	24115306		Bhojak, T. J.  et al. 2001	11502364				Cathepsin G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001911.2			CDC GDPinfo	1511	Hs.421724			Neuroscience letters. 2001 Aug;309(2):138-40	Genetic polymorphism in the cathepsin G gene and the risk of Alzheimer's disease.		116830	20868	2	2001	Our data show no effect of this cathepsin G polymorphism in AD. Characterization of additional polymorphisms in this gene may provide more conclusive answers.	Control:310 age-matched controls;Case:464 late-onset AD cases										
119974		Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia, Multi-Infarct|Dementia|Alzheimer Disease|Genetic Predisposition to Disease|Depressive Disorder	11	11p15.5	CTSD	1730560	1741798		Heun, R.  et al. 2004	15211070				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3		Germany	CDC GDPinfo	1509	Hs.121575			Dementia and geriatric cognitive disorders. 2004 ;18(2):151-8	Contribution of Apolipoprotein E and Cathepsin D Genotypes to the Familial Aggregation of Alzheimer's Disease		116840	20867	2	2004	 Familial aggregation of late-onset AD is likely to be caused by several genetic risk factors. Variants of the apolipoprotein E and cathepsin D genes influenced the risk of AD in relatives of nondemented control subjects. The lack of an influence of these genotypes on the risk of AD in relatives of AD subjects may be the consequence of complementary reductions of other genetic risk factors such as various, yet unknown susceptibility genes in patients and, consequently, in their first-degree relatives.	Control:144 nondemented controls;Case:70 Alzheimer's disease casesand 1,420 first-degree:relatives										
119975	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Styczynska, M.  et al. 2003	12782337				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Polish	Poland	CDC GDPinfo	1509	Hs.121575			Neuroscience letters. 2003 Jun;344(2):99-102	Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.		116840	24163	2	2003	Our results suggest that the APOE epsilon 4 allele is the only known genetic risk factor for late-onset, sporadic AD.	Case:100 cases of late-onset Alzheimer's disease;Control:100 healthy controls										
119976		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	11	11p15.5	CTSD	1730560	1741798		Suzuki, A.  et al. 2004	15081423				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Japanese	Japan	CDC GDPinfo	1509	Hs.121575			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		116840	25889	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119971	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		11	11p15.5	CTSD	1730560	1741798		Sun, Y.  et al. 2005	15843343				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Chinese		CDC GDPinfo	1509	Hs.121575			Yi chuan. 2005 Mar;27(2):190-4	[The C224T polymorphism in the cathepsin D gene is not associated with sporadic Alzheimer's disease in Chinese]		116840	20864	2	2005	We find no strong evidence of association between the CTSD C224T polymorphism and Chinese sporadic AD. Whereas there may be a weak synergistic interaction between ApoE epsilon4 and CTSD T allele.	Case Chinese sporadic Alzheimer's disease patients;Control age-matched controls										
119972		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Capurso, C.  et al. 2005	16127101				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	European	Europe|Italy	CDC GDPinfo	1509	Hs.121575			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Aug;60(8):991-6	The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations.		116840	20865	2	2005												
119973	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Schulte, T.  et al. 2003	12811635				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDPinfo	1509	Hs.121575			J Neural Transm. 2003 Jul;110(7):749-55	Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease		116840	20866	2	2003	Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk.	Control:340:controls;Case:457 German Parkinson's disease patients										
119968	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Li, X. Q.  et al. 2004	15211064				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Chinese		CDC GDPinfo	1509	Hs.121575			Dementia and geriatric cognitive disorders. 2004 ;18(2):115-9	Association between Cathepsin D Polymorphism and Alzheimer's Disease in a Chinese Han Population		116840	9625	2	2004	No direct association was found between CTSD polymorphism and AD risk. There might be a weak synergistic interaction between CTSD T and APOEepsilon4 allele in increasing the risk for developing AD.	Case:156 sporadic Alzheimer's disease patients;Control:183:controls										
119969	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Jhoo, J. H.  et al. 2005	16085063				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Korean	Korea	CDC GDPinfo	1509	Hs.121575			Archives of gerontology and geriatrics. 2005 Sep-Oct;41(2):121-7	Lack of association of cathepsin D genetic polymorphism with Alzheimer's disease in Koreans.		116840	9627	2	2005												
119970	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Menzer, G.  et al. 2001	11304834				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3		Germany|Italy|Switzerland	CDC GDPinfo	1509	Hs.121575			American journal of medical genetics. 2001 Mar;105(2):179-82	Non-replication of association between cathepsin D genotype and late onset Alzheimer disease.		116840	15948	2	2001	We could Yot coYfirm aY associatioY betweeY CTSD geYotype aYd AD, although there was a slight but Yot sigYificaYt iYcrease iY frequeYcy of the T allele aYd T carrier status iY AD. Post hoc data aYalyses suggested that there might be a stroYger effect of CTSD geYotype oY AD risk iY males, aYd aY iYteractioY betweeY CTSD aYd APOE geYotypes iY males but Yot females.	Control:302 non-demented controls;Case:324 Caucasian late-onset AD patients Germany, Switzerland, and Italy										
119965		intelligence	NEUROLOGICAL	NEUR	Cognition Disorders	11	11p15.5	CTSD	1730560	1741798		Payton, A.  et al. 2003	12556904				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDPinfo	1509	Hs.121575			Molecular psychiatry. 2003 Jan;8(1):14-8	Cathepsin D exon 2 polymorphism associated with general intelligence in a healthy older population.		116840	9622	2	2003	We observed a significant association (P=0.01) between a functional C>T (Ala>Val) transition within exon 2 of the CTSD gene that increases the secretion of pro-CTSD from the cell, and the AH4-1 score at initial testing on entry to the longitudinal study. Interestingly, CTSD is transported by IGF2R from the trans Golgi network to the lysosome.	Cohort 767 healthy adults with a fillow-up period of over 15 years 										
119966	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Ingegni, T.  et al. 2003	12826741				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Italian		CDC GDPinfo	1509	Hs.121575			Dementia and geriatric cognitive disorders. 2003 ;16(3):151-5	Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease.		116840	9623	2	2003	Our data indicate no significant association between this polymorphism and the risk of AD. Likewise there was no association between CTSD polymorphism and the apolipoprotein E genotype in the risk of developing AD.	Control:120:controls;Case:142 Alzheimer's disease patients										
119967	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Ntais, C.  et al. 2004	15003956	Ala224Val			Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDPinfo	1509	Hs.121575			American journal of epidemiology. 2004 Mar;159(6):527-36	Meta-analysis of the association of the cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer's disease: a HuGE gene-diseaseassociation review.		116840	9624	2	2004	The meta-analysis shows that the CTSD polymorphism is not a major risk factor for Alzheimer's disease, although a small effect or an enhancement of the APOE*4 effect cannot be excluded.	Case:3,174 Alzheimer's disease cases from 14 studies;Control:3,298 controls from 14 studies										
119962	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	11	11p15.5	CTSD	1730560	1741798	0.002	Suzuki A 2004	15081423				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Japanese	Japan	KGB	1509	Hs.121575			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		116840	1542	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119963	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Mateo, I.  et al. 2002	11840502				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Spanish	Spain	CDC GDPinfo	1509	Hs.121575			American journal of medical genetics. 2002 Jan;114(1):31-3	Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample.		116840	9620	2	2002	We did not observe any association between the T-allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender.	Case:311 sporadic Alzheimer's disease patients;Control:346 control subjects										
119964	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Bagnoli, S.  et al. 2002	12147324				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Italian	Italy	CDC GDPinfo	1509	Hs.121575			Neuroscience letters. 2002 Aug;328(3):273-6	Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.		116840	9621	2	2002	Thus, our data do not support a role for the catD gene as a genetic risk factor in the development of AD.	Case Alzheimer's disease patients;Control:controls										
119959	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798	n	Bertram L et al. 2001	11198280				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			KGB	1509	Hs.121575			Annals of neurology. 2001 Jan;49(1):114-6	No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease.		116840	1539	1	2001												
119960		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Menzer G et al. 2001	11304834				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3		Germany|Italy|Switzerland	KGB	1509	Hs.121575			American journal of medical genetics. 2001 Mar;105(2):179-82	Non-replication of association between cathepsin D genotype and late onset Alzheimer disease.		116840	1540	1	2001	We could Yot coYfirm aY associatioY betweeY CTSD geYotype aYd AD, although there was a slight but Yot sigYificaYt iYcrease iY frequeYcy of the T allele aYd T carrier status iY AD. Post hoc data aYalyses suggested that there might be a stroYger effect of CTSD geYotype oY AD risk iY males, aYd aY iYteractioY betweeY CTSD aYd APOE geYotypes iY males but Yot females.	Control:302 non-demented controls;Case:324 Caucasian late-onset AD patients Germany, Switzerland, and Italy										
119961	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Schulte T 2003	12811635				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			KGB	1509	Hs.121575			J Neural Transm. 2003 Jul;110(7):749-55	Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease.		116840	1541	1	2003	Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk.	Control:340:controls;Case:457 German Parkinson's disease patients										
119956	Y	colorectal cancer	CANCER	CAN		8	8p22	CTSB	11737442	11763055		MacKenzie, J. R.  et al. 2001	11513559				Cathepsin B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001908.3			CDC GDPinfo	1508	Hs.520898			Molecular and cellular probes. 2001 Aug;15(4):235-7	A polymorphic marker for the human cathepsin B gene		116810	15947	2	2001	The human CTSB gene is located on chromosome 8 and the alleles described here can potentially be used as markers in linkage and association studies of cancers and other diseases.	Cohort 70 non-related Australian blood donors 										
119957		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	11	11q14.1-q14.3	CTSC	87666407	87710586		Kornman, K. S.  et al. 2001	11887471				Cathepsin C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001814.2			CDC GDPinfo	1075	Hs.128065			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		602365	20863	2	2001	Review Article											
119958	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798	n	Mateo I 2002	11840502	T- allele of a biallelic (alleles C and T) polymorphism in the exon 2 of the catD			Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Spanish	Spain	KGB	1509	Hs.121575			American journal of medical genetics. 2002 Jan;114(1):31-3	Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample.		116840	1538	1	2002	We did not observe any association between the T-allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender.	Case:311 sporadic Alzheimer's disease patients;Control:346 control subjects										
119953		colorectal cancer	CANCER	CAN	Neoplasms|Colorectal Neoplasms|Chromosome Aberrations	3	3p21	CTNNB1	41216015	41256938			16356174				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			CDC GDPinfo	1499	Hs.476018			BMC cancer [electronic resource]. 2005 ;5:160	Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study		116806	20862	2	2005	 CTNNB1 mutations seem to be of minor importance in sporadic colorectal cancer. The main differences in tumour and patient characteristics are found between groups of patients based on mismatch repair deficiency.											
119954		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	3	3p21	CTNNB1	41216015	41256938		Fearnhead, N. S.  et al. 2004	15520370				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			CDC GDPinfo	1499	Hs.476018			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(45):15992-7	Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.		116806	24162	2	2004	This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.	Case:124 patients with multiple adenomas;Control:483 random controls										
119955		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	3	3p21	CTNNB1	41216015	41256938		Starinsky, S.  et al. 2004	15523694				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2		Israel	CDC GDPinfo	1499	Hs.476018			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		116806	26814	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
119949		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	2	2q33	CTLA4	204440753	204446928		Watanabe, I.  et al. 2003	12732844				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		123890	27693	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
119950		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q22.2	CTNNA3	67349936	69125933		Martin, E. R.  et al. 2005	16199552				Catenin (cadherin-associated protein), alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013266.1			CDC GDPinfo	29119	Hs.325275			Journal of medical genetics. 2005 Oct;42(10):787-92	Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.		607667	20861	2	2005	 This study suggests that VR22 or a nearby gene influences susceptibility to Alzheimer's disease, and the effect is dependent on APOE status.			CTNNA3		APOE	APOE4					
119951	Y	high exposure to aflatoxin B1.	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	3	3p21	CTNNB1	41216015	41256938		Devereux TR et al. 2001	11429783				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			KGB	1499	Hs.476018			Molecular carcinogenesis. 2001 Jun;31(2):68-73	CTNNB1 mutations and beta-catenin protein accumulation in human hepatocellular carcinomas associated with high exposure to aflatoxin B1.		116806	1536	1	2001												
119945		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Kurylowicz, A.  et al. 2005	16279844				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Thyroid. 2005 Oct;15(10):1119-24	Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease.		123890	20859	2	2005	 Our results support the notion that CD40 C-1T polymorphism has a modest effect on genetic susceptibility to sporadic GD.											
119946		kidney transplant complications	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928			16378074				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		123890	20860	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
119947		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Barton, A.  et al. 2002	11981324				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		123890	25887	2	2002	Review article											
119942		diabetes, type 1; celiac disease; myasthenia gravis	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Guzman, V. B.  et al. 2005	16112024				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human immunology. 2005 Jul;66(7):773-6	Characterization of CD28, CTLA4, and ICOS polymorphisms in three Brazilian ethnic groups.		123890	20856	2	2005												
119943		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Piras, G.  et al. 2005	15953005				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			British journal of haematology. 2005 Jun;129(6):784-90	Genetic analysis of the 2q33 region containing CD28-CTLA4-ICOS genes: association withnon-Hodgkin's lymphoma.		123890	20857	2	2005												
119944		celiac disease	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Brophy, K.  et al. 2005	16237465				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Irish		CDC GDPinfo	1493	Hs.247824			Genes and immunity. 2006 Jan;7(1):19-26	Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population.		123890	20858	2	2005												
119938		graft versus host disease	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Daly, A. K.  et al. 2002	12083951				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		123890	20852	2	2002	Review article											
119939		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Luomala, M.  et al. 2003	14616291				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Acta neurologica Scandinavica. 2003 Dec;108(6):396-400	Promoter polymorphism of IL-10 and severity of multiple sclerosis.		123890	20853	2	2003	Our results suggest that differential production of IL-10 might be a factor in the severity of MS.	Control:109,400:controls;Case:93,116 multiple sclerosis patients										
119940	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ihara, K.  et al. 2001	11685455				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Immunogenetics. 2001 Aug;53(6):447-54	Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population		123890	20854	2	2001	Of the three genes encoding co-stimulatory molecules, the CTLA-4 gene appears to confer risks for the development of type 1 diabetes.	Case Japanese type 1 diabetic patients;Control not specified in abstract										
119935		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Tsuchiya, N.  et al. 2003	12858454				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		123890	19931	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
119936	Y	autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Akamizu, T.  et al. 2000	11081251				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Thyroid. 2000 Oct;10(10):851-8	Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients.		123890	20033	2	2000	These results confirm and expand on our previous study suggesting that alleles of the TSHR and CTLA-4 genes, or genes near them contribute to AITD susceptibility and set the stage for future studies of interactions between these genes and AITD.	Control:218 Japanese controls;Case:349 unrelated Japanese autoimmune thyroid disease:patients										
119937		hypoparathyroidism	METABOLIC	MET	Hypoparathyroidism|Polyendocrinopathies, Autoimmune	2	2q33	CTLA4	204440753	204446928			16313305				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			International journal of immunogenetics. 2005 Dec;32(6):393-400	Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism		123890	20851	2	2005												
119932		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Skorka, A.  et al. 2005	15943829				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish	Poland	CDC GDPinfo	1493	Hs.247824			Clinical endocrinology. 2005 Jun;62(6):679-82	Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population:association and gene dose-dependent correlation with age of onset.		123890	19178	2	2005	 We replicated the association between Graves' disease and PTPN22 'T' reported in British Caucasians. We also found a gene dose-dependent effect of PTPN22 'T' on the age of onset of Graves' disease.											
119933		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928			16380915				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Swedish	North America|Sweden	CDC GDPinfo	1493	Hs.247824			American journal of human genetics. 2005 Dec;77(6):1044-60	Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association ofSusceptibility with PTPN22, CTLA4, and PADI4		123890	19187	2	2005												
119934		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Miterski, B.  et al. 2004	15018649				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Germany	CDC GDPinfo	1493	Hs.247824			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		123890	19901	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
119929	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Fajardy, I.  et al. 2002	12047362				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		France	CDC GDPinfo	1493	Hs.247824			European journal of immunogenetics. 2002 Jun;29(3):251-7	CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study andsegregation analysis. Evidence of a maternal effect.		123890	17805	2	2002	Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. This potential parental effect needs to be confirmed in a larger data set.	Case:134 type 1 diabetic patients;Control:273 control subjects										
119930		beta cell autoimmunity	IMMUNE	IMM	Autoimmune Diseases	2	2q33	CTLA4	204440753	204446928		Hermann, R.  et al. 2005	16025255				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Finland	CDC GDPinfo	1493	Hs.247824			Diabetologia. 2005 Sep;48(9):1766-75	The effect of HLA class II, insulin and CTLA4 gene regions on the development of humoral beta cell autoimmunity.		123890	17813	2	2005												
119931		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Alenius, G. M.  et al. 2004	15517637				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of rheumatology. 2004 Nov;31(11):2230-5	Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis.		123890	19129	2	2004	 We identified an association between psoriatic arthritis and one of the microsatellite markers within the TNFB locus at the HLA region on chromosome 6. Linkage disequilibrium between TNFB123 and certain HLA-B antigens was found.	Case:120 patients with psoriasis and defined joint disease:Sweden;Control:94 controls with the same ethnic background as the patients from the same region as the cases										
119926		liver disease, alcoholic	OTHER	OTH	Fatty Liver|Liver Cirrhosis, Alcoholic|Alcoholism	2	2q33	CTLA4	204440753	204446928		Vidali, M.  et al. 2003	12540792				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Hepatology (Baltimore, Md). 2003 Feb;37(2):410-9	Genetic and epigenetic factors in autoimmune reactions toward cytochrome P4502E1 in alcoholic liver disease		123890	17684	2	2003	In conclusion, antigenic stimulation by HER-modified CYP2E1 combined with an impaired control of T-cell proliferation by CTLA-4 mutation promotes the development of anti-CYP2E1 autoantibodies that might contribute to alcohol-induced liver injury.	Control:37/59 heavy drinkers without liver disease or steatosis only (n=37), and healthy subjects (n=59);Case:90 patients with alcoholic fibrosis/cirrhosis										
119927		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Steck, A. K.  et al. 2005	16046318				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Diabetes. 2005 Aug;54(8):2482-6	Association of non-HLA genes with type 1 diabetes autoimmunity.		123890	17760	2	2005												
119928		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Graham, J.  et al. 2002	11978629				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Diabetes. 2002 May;51(5):1346-55	Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes.		123890	17804	2	2002	We conclude that  age and genetic factors such as HLA-DQ and INS VNTR need to be combined with islet autoantibody markers when evaluating the risk for type 1 diabetes development.	Control:702 control subjects aged 0-34 years;Case:971 incident patients with type 1 diabetes										
119923	Y	thyroiditis, chronic lymphocytic	UNKNOWN	UNK	Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Terauchi, M.  et al. 2003	15055474				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		CDC GDPinfo	1493	Hs.247824			Journal of endocrinological investigation. 2003 Dec;26(12):1208-12	Interactions of HLA-DRB4 and CTLA-4 genes influence thyroid function in Hashimoto's thyroiditis in Japanese population.		123890	17483	2	2003	These findings suggest that the interaction between the HLA-DRB4 and CTLA-4 genes determines the thyroid function of TPO-positive goitrous Japanese HT patients.	Control:105:controls;Case:70 Japanese Hashimoto's thyroiditis patients										
119924	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hunt, K. A.  et al. 2005	15657618				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Great Britain	CDC GDPinfo	1493	Hs.247824			European journal of human genetics. 2005 Apr;13(4):440-4	A common CTLA4 haplotype associated with coeliac disease		123890	17623	2	2005	A common CTLA4 haplotype shows strong association with coeliac disease, and contains multiple alleles reported to affect immunological function. Loss of tolerance to dietary antigens in coeliac disease may be mediated in part by heritable variants in co-signalling genes regulating T-cell responses.	Case:340 Caucasian celiac disease cases:UK;Control:973/705 healthy controls tested for ICOS (n=973) and for CTLA4 haplotype (n=705)										
119925		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928			16390390				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Pediatric diabetes. 2005 Dec;6(4):213-20	Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus		123890	17626	2	2005												
119920	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q33	CTLA4	204440753	204446928		Rasmussen, H. B.  et al. 2001	11239948				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	Europe	CDC GDPinfo	1493	Hs.247824			Journal of the neurological sciences. 2001 Mar;184(2):143-7	CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese.		123890	17451	2	2001	Our results do not support the assumption that CTLA4 influences susceptibility to MS in European Caucasians. On the other hand, they raise the possibility that the development of MS in other ethnic groups involves interaction between CTLA4 and DR2.	Control:125 healthy control subjects from a population of white:Caucasians;Case:84 MS patients from a population of white Caucasians										
119921		arthritis	IMMUNE	IMM	Cardiovascular Diseases	2	2q33	CTLA4	204440753	204446928		Ordovas, J. M.  et al. 2002	11891412				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Current opinion in lipidology. 2002 Apr;13(2):113-7	The APOE locus and the pharmacogenetics of lipid response		123890	17458	2	2002	Review article											
119922	Y	sclerosis, systemic	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Takeuchi, F.  et al. 2002	12508774				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Clinical and experimental rheumatology. 2002 Nov-Dec;20(6):823-8	Association of CTLA-4 with systemic sclerosis in Japanese patients.		123890	17461	2	2002	 In Japanese scleroderma, the +49A allele of CTLA-4 increased in the presence of SSc with the anti-RNP antibody.	Control:107 normal subjects;Case:66 Japanese systemic sclerosis patients										
119917	N	thyroiditis, Hashimoto's	IMMUNE	IMM	Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Petrone, A.  et al. 2001	11288988				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	CDC GDPinfo	1493	Hs.247824			Thyroid. 2001 Feb;11(2):171-5	Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population		123890	17332	2	2001	These data suggest that these two polymorphic sites at CTLA-4 do not play a major role in the susceptibility of the disease in an Italian population while female gender, age over 50 years, HLA DRB1*04-DQB1*0301 haplotype increase the risk of developing HT.	Case:126 patients with Hashimoto's thyroiditis Italy-Lazio region;Control:301 control subjects Italy-Lazio region										
119918	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Zalloua, P. A.  et al. 2004	15301861				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Lebanon	CDC GDPinfo	1493	Hs.247824			Human immunology. 2004 Jul;65(7):719-24	Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.		123890	17401	2	2004	This study suggests that CTLA4 is a candidate susceptibility gene for T1D.	Case:190 patients with type 1 diabetes and their families;Control:96 control individuals										
119919	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q33	CTLA4	204440753	204446928		Lorentzen, A. R.  et al. 2005	16005527				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Norway	CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2005 Sep;166(2-Jan):197-201	Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients.		123890	17432	2	2005												
119913	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928			16325273				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2006 Feb;171(2-Jan):193-7	No evidence of a significant role for CTLA-4 in multiple sclerosis		123890	15942	2	2005												
119914	N	endometriosis	REPRODUCTION	REP	Endometriosis|Autoimmune Diseases	2	2q33	CTLA4	204440753	204446928			16373368				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Molecular human reproduction. 2005 Oct;11(10):745-749	Variants of the CTLA4 gene that segregate with autoimmune diseases are not associated with endometriosis		123890	15943	2	2005												
119915	N	spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	2	2q33	CTLA4	204440753	204446928		Lee, Y. H.  et al. 2001	11771526	( -670 )		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Clinical rheumatology. 2001 ;20(6):420-2	Polymorphsims of CTLA-4 exon 1 +49, CTLA-4 promoter -318 and Fas promoter -670 in spondyloarthropathies.		123890	16631	2	2001	We found no association between the polymorphisms of the CTLA-4 exon 1 +49, CTLA-4 promoter -318 and Fas promoter -670 genes and SpA. However, further studies are required to discover the possible contribution of the polymorphisms of the CTLA-4 and Fas to the pathogenesis of SpA.	Case:54 spondyloarthropathy patients;Control:87/84 bronchial asthma patients (n=87) and healthy:controls (n=84)										
119909		rheumatoid arthritis	IMMUNE	IMM	Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ramirez-Soriano, A.  et al. 2005	16034471				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Genes and immunity. 2005 Dec;6(8):646-57	Haplotype tagging efficiency in worldwide populations in CTLA4 gene.		123890	15938	2	2005												
119910	Y	myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis	2	2q33	CTLA4	204440753	204446928		Chuang, W. Y.  et al. 2005	16178018	CTLA4high			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Annals of neurology. 2005 Oct;58(4):644-8	A CTLA4high genotype is associated with myasthenia gravis in thymoma patients.		123890	15939	2	2005												
119911		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2q33	CTLA4	204440753	204446928		Caputo, M.  et al. 2005	16206510	CTLA4 +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Autoimmunity. 2005 Jun;38(4):277-81	Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA).		123890	15940	2	2005												
119906	Y	lupus erythematosus	IMMUNE	IMM	Epstein-Barr Virus Infections|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Parks, C. G.  et al. 2005	15818712				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		North Carolina|South Carolina	CDC GDPinfo	1493	Hs.247824			Arthritis and rheumatism. 2005 Apr;52(4):1148-59	Association of Epstein-Barr virus with systemic lupus erythematosus: effect modification by race,age, and cytotoxic T lymphocyte-associated antigen 4 genotype.		123890	15935	2	2005	 These findings suggest that repeated or reactivated EBV infection, which results in increased EBV-IgA seroprevalence and higher IgG antibody titers, may be associated with SLE, and that the CTLA-4 genotype influences immune responsiveness to EBV in SLE patients. The observed patterns of effect modification by race, age, and CTLA-4 genotype should be examined in other studies and may help frame new hypotheses regarding the role of EBV in SLE etiology.	Case:230 subjects recently diagnosed as having SLE (144 African American and 86 white) from university and community-based clinics;Control:276 age-, sex-, and state-matched subjects (72 African American and 204 white) recruited from driver's license registries	Epstein-Barr virus									
119907	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lei, C.  et al. 2005	15841095				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	CDC GDPinfo	1493	Hs.247824			European journal of human genetics. 2005 Jul;13(7):823-8	Association of the CTLA-4 gene with rheumatoid arthritis in Chinese Han population.		123890	15936	2	2005	These results suggested that the CTLA-4 gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in RA disease.	Control:250 healthy controls;Case:326 rheumatoid arthritis patients										
119903	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Ban, Y.  et al. 2004	15356063				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2004 Sep;89(9):4562-8	Analysis of immune regulatory genes in familial and sporadic graves' disease		123890	15932	2	2004	These results suggested that HLA-DR3 and CTLA-4 conferred a general increased risk for GD in both the sporadic and familial forms, and that the risk conferred by them was additive. However, HLA-DR3 and CTLA-4 did not have a stronger effect in the familial GD patients, suggesting that additional genes must contribute to the aggregation of GD within families.	Control:150 matched controls;Case:160 Caucasian Graves' disease patients (69 familial and 91 sporadic)		HLA-DR3		CTLA-4	A/G(49) SNP			Y		Graves' disease
119904	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Samsami Dehaghani, A.  et al. 2005	15617700				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			International journal of gynaecology and obstetrics. 2005 Jan;88(1):19-24	Heterozygosity in CTLA-4 gene and severe preeclampsia		123890	15933	2	2005	 These data suggest that heterozygosity in the CTLA-4 A49G allele might be a predisposing factor for severe preeclampsia. Whether the observed association results from linkage imbalance with other loci on chromosome 2 or other polymorphisms of the CTLA-4 gene or even from a preferential transfer and/or expression of one allele from a heterozygous mother to the fetus will be the subject of future investigations.	Control:151 healthy women;Case:36 pregnant women with severe preeclampsia										
119905	N	diabetes, type 1	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Li-Sucholeiki, X. C.  et al. 2005	15708585				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Mutation research. 2005 Mar;570(2):267-80	Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry.		123890	15934	2	2005	The data suggest that it is unlikely that rare variants in the scanned regions of CTLA4 represent a significant proportion of T1D risk and illustrate that CDCE-based mutational spectrometry of DNA pools offers a feasible and cost-effective means of testing the role of rare variants in susceptibility to common diseases.	Case:1,799/2,102 young American adults and two T1D populations, one American (1799 individuals) and one from the United Kingdom (2102 individuals);Control:10,464 pooled genomic DNA from young American adults										
119900	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression	2	2q33	CTLA4	204440753	204446928		Ghaderi, A.  et al. 2004	15218356				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Breast cancer research and treatment. 2004 Jul;86(1):7-Jan	Cytotoxic T lymphocyte antigen-4 gene in breast cancer.		123890	15929	2	2004	The observed decrease in the frequency of GG genotype in the breast cancer patients is contrary to the frequently reported increase of GG genotype in autoimmune diseases. In addition, the data implies that polymorphism of ctla-4 exon 1 contributes in tumor progression.	Control:151 age/sex matched normal individuals;Case:197 women with primary breast cancer										
119901	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Torres, B.  et al. 2004	15248219				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Arthritis and rheumatism. 2004 Jul;50(7):2211-5	Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus.		123890	15930	2	2004	 The 3'-UTR of the CTLA4 gene is involved in susceptibility to SLE.	Control:293 healthy controls;Case:395 patients with systemic lupus erythematosus										
119902	Y	Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Zhou, Y.  et al. 2004	15334480				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Arthritis and rheumatism. 2004 Aug;50(8):2645-50	An analysis of CTLA-4 and proinflammatory cytokine genes in Wegener's granulomatosis		123890	15931	2	2004	 The Ctla4 (AT)n 86 allele has been previously demonstrated to be crucial for maintenance of normal levels of CTLA-4 expression and balance between T cell activation and inhibition. Our results in American patients confirm findings from a Scandinavian cohort in which a positive association between WG and longer alleles of (AT)n in the Ctla4 3'-UTR was demonstrated. Diminished frequencies of the most effective allele for CTLA-4 expression may represent a WG-related susceptibility mutation that accounts, in part, for increased T cell activation and clonal expansion in WG. Blockade of T cell costimulation using CTLA-4Ig might be a useful therapeutic intervention, providing an alternative or complementary approach to conventional treatment with immunosuppressive agents.	Case:117 American patients with Wegener's granulomatosis;Control:123 ethnically matched healthy controls										
119897	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Furugaki, K.  et al. 2004	14986169				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Journal of human genetics. 2004 ;49(3):166-8	Association of the T-cell regulatory gene CTLA4 with Graves' disease and autoimmune thyroid disease in the Japanese		123890	15926	2	2004	These results suggested that the CTLA4 gene is involved in the susceptibility for GD and AITD in the Japanese.	Control:266 healthy controls;Case:380 autoimmune thryroid disease patients:Japan										
119898	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928		Barton, A.  et al. 2004	15022315				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Arthritis and rheumatism. 2004 Mar;50(3):748-52	Haplotype analysis in simplex families and novel analytic approaches in a case-control cohort reveal no evidence of association of the CTLA-4 gene with rheumatoid arthritis.		123890	15927	2	2004	 No evidence for association of CTLA-4 with RA was detected using family or case-control methods.	Control:173 unrelated controls;Case:759 unrelated patients with rheumatoid arthritis										
119899		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Barreto, M.  et al. 2004	15138458				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Portugal	CDC GDPinfo	1493	Hs.247824			European journal of human genetics. 2004 Aug;12(8):620-6	Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.		123890	15928	2	2004	The functional characterization of disease-associated CTLA4 gene variants is now required to elucidate their role in the pathogenesis of SLE and other autoimmune diseases.											
119894		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		King, A. L.  et al. 2003	14675397				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			European journal of immunogenetics. 2003 Dec;30(6):427-32	Coeliac disease: investigation of proposed causalvariants in the CTLA4 gene region.		123890	15923	2	2003		Control:100 unrelated/unaffected controls;Case:149 family trios with type 1 diabetic proband										
119895	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	2	2q33	CTLA4	204440753	204446928		Jun, T. Y.  et al. 2004	14678452				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean		CDC GDPinfo	1493	Hs.247824			Psychiatry and clinical neurosciences. 2004 Feb;58(1):21-4	No evidence for an association of the CTLA4 gene with bipolar I disorder.		123890	15924	2	2004	In the present study an association was not found of exon 1 (+49) polymorphism of CTLA4 gene with bipolar disorder in the Korean population.	Control:149 age- and sex-matched subjects without current or past history of autoimmune diseases or mental:disorder;Case:90 patients without serious medical illness, neurologic illness, hormonal disorder, or concomitant mental illness were selected from among Korean patients diagnosed with bipolar disorder										
119896	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	2	2q33	CTLA4	204440753	204446928		Hudson, L. L.  et al. 2004	14705224				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	African American		CDC GDPinfo	1493	Hs.247824			The Journal of rheumatology. 2004 Jan;31(1):85-7	Ethnic differences in cytotoxic T lymphocyte associated antigen 4 genotype associations with systemic sclerosis		123890	15925	2	2004	 Our data show that the exon 1 (+49) polymorphism of the CTLA-4 gene is associated with systemic sclerosis in African Americans.	Control matched controls;Case:293 African American and Caucasian patients with systemic sclerosis										
119891	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Mora, B.  et al. 2003	12559633	CTLA4 +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	CDC GDPinfo	1493	Hs.247824			Human immunology. 2003 Feb;64(2):297-301	CTLA-4 +49 A/G dimorphism in Italian patients with celiac disease		123890	15920	2	2003	These data support CTLA-4 as a predisposing gene for CD in an Italian population with a prominent role in patients not carrying the high-risk human leukocyte antigen-DQ2 molecules.	Control:144 ethnically matched controls;Case:86 Italian celiac disease patients										
119892	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Vaidya, B.  et al. 2003	12780750				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Clinical endocrinology. 2003 Jun;58(6):732-5	CTLA4 gene and Graves' disease: association ofGraves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism.		123890	15921	2	2003	 The promoter CTLA4(-318)C/T polymorphism is not in linkage disequilibrium with the pathogenic polymorphism(s) at the CTLA4 locus. The alleles of both the exon 1 CTLA4(49)A/G and the intron 1 CTLA4(1822)C/T polymorphisms are associated with GD, which is stronger in patients with TAO.	Case:301 white patients with Graves' disease;Control:349 healthy ethnically matched local controls										
119893	Y	liver transplant	OTHER	OTH		2	2q33	CTLA4	204440753	204446928		Reuver Pd, P.  et al. 2003	14629291	CTLA4 +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			American journal of transplantation. 2003 Dec;3(12):1587-94	Recipient ctla-4 +49 g/g genotype is associated with reduced incidence of acute rejection after liver transplantation		123890	15922	2	2003	In conclusion, this pilot study suggests that liver transplant recipients homozygous for CTLA-4 + 49 G have a reduced risk of acute rejection.	Cohort 135/73 liver transplant recipients (n=135) and donors (n=73) 										
119888		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	2	2q33	CTLA4	204440753	204446928		Masterman, T.  et al. 2002	12458054				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2002 Oct;131(2-Jan):208-12	CTLA4 dimorphisms and the multiple sclerosis phenotype.		123890	15917	2	2002	In stage 1, deviations in CTLA4 haplotype frequencies were observed in patients subgrouped by course; in stage 2, none of these original associations were confirmed.	Cohort multiple sclerosis patients as part of a two-stage study 										
119889	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Maurer, M.  et al. 2002	12458055				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2002 Oct;131(2-Jan):213-5	CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis.		123890	15918	2	2002	The results suggest that dysregulation of CTLA4-driven down-regulation of T-cell function due a genetic dimorphism in exon 1 may be involved in the pathogenesis of different MS disease subtypes.	Case multiple sclerosis patients;Control:control										
119890	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Kantarci, O. H.  et al. 2003	12507781				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Minnesota|Boston	CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2003 Jan;134(2-Jan):133-41	CTLA4 is associated with susceptibility to multiple sclerosis.		123890	15919	2	2003	We did not detect linkage with MS susceptibility in multiplex families. We did not find a strong association with age at onset, disease course or severity. CTLA-4 is associated with susceptibility to MS.	Case:122 sporadic patients with multiple sclerosis;Control:244 age-, gender- and ethnicity-matched controls										
119885	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Ban, Y.  et al. 2001	11681491				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Autoimmunity. 2001 ;34(1):39-43	No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population.		123890	15914	2	2001	The present study did not support an association between the CTLA-4 microsatellite marker and type 1 diabetes in our Japanese study population.	Case:118 Japanese patients with type 1 diabetes;Control:195 control subjects, not otherwise specified in:abstract										
119886	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Cinek, O.  et al. 2002	12047357	CTLA4 +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Czech	Czech Republic	CDC GDPinfo	1493	Hs.247824			European journal of immunogenetics. 2002 Jun;29(3):219-22	The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children.		123890	15915	2	2002	This may be another piece of evidence against the +49 A/G transition as the aetiological polymorphism within the CTLA4 gene.	Control:289:controls;Case:305 diabetic children										
119887	Y	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Klitz, W.  et al. 2002	12185534				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Philippines	CDC GDPinfo	1493	Hs.247824			Immunogenetics. 2002 Aug;54(5):310-3	Association of CTLA-4 variation with type I diabetes in Filipinos		123890	15916	2	2002	We report the association of CTLA-4 A49G variation (cytotoxic T-lymphocyte associated-4) to TID among Filipinos, consistent with some but not all previous reports in other ethnic groups. The G allele frequency (0.61 versus 0.45, P=0.003) and GG genotype frequency (0.42 versus 0.22, P=0.004) were each increased in patients compared to controls, respectively. Among Filipinos, the CTLA-4 genotypes are associated with disease only in the presence of the predisposing DR3, 4, and 9 haplotypes ( P=0.012). Compared to the AA genotype, the increased risk of diabetes predisposition is greatest in genotype GG bearing the DR susceptible alleles ( DR3, 4, and 9) (odds ratio=4.6, P=0.001), demonstrating that non- HLA loci, acting in concert with HLA, can play potent roles in modifying susceptibility to TID.	Case:90 patients with type 1 diabetes:Philipines;Control:94:controls										
119882	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lee, Y. J.  et al. 2001	11327371	-318 C-T		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of pediatric endocrinology & metabolism. 2001 Apr;14(4):383-8	The promoter region of the CTLA4 gene is associated with type 1 diabetes mellitus.		123890	15911	2	2001	This study demonstrates that nucleotide -318 C-T polymorphism of the CTLA4 gene is associated with type 1 DM. The promoter allele -318 C confers a risk of type 1 DM but allele -318 T confers protection against this disease.	Control:260 healthy siblings of the cases;Case:347 unrelated children with type 1 diabetes mellitus (age at diagnosis 7.2+/-3.8 years)										
119883	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Osei-Hyiaman, D.  et al. 2001	11522687				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	Ghana	CDC GDPinfo	1493	Hs.247824			Diabetes. 2001 Sep;50(9):2169-71	Association of a novel point mutation (C159G) of the CTLA4 gene with type 1 diabetes in West Africans but not in Chinese.		123890	15912	2	2001	The Yovel CTLA4 geYe polymorphism at Yucleotide positioY 159 sigYificaYtly associated with type 1 diabetes iY West AfricaYs, but Yot iY ChiYese. OY the other haYd, the CTLA4 geYe polymorphism at Yucleotide positioY 49 sigYificaYtly associated with type 1 diabetes iY ChiYese, but Yot iY West AfricaYs.	Case:182 unrelated type 1 diabetes children Ghana, West Africa;Control:201 control subjects from same area Ghana, West Africa;Case:350 type 1 diabetic children central China;Control:420 healthy control subjects from same geographic area central China										
119884		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Allahabadia, A.  et al. 2001	11583755				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Lancet. 2001 Sep;358(9286):984-5	MHC class II region, CTLA4 gene, and ophthalmopathy in patients with Graves' disease.		123890	15913	2	2001	Allelic frequencies of these genes in patients with Graves' disease who did and did not have concurrent thyroid-associated ophthalmopathy did not differ, and are, therefore, unlikely to contribute to its development.	Cohort patients with Graves' disease who did and did not have concurrent thyroid-associated ophthalmopathy 										
119879		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Martin, A. M.  et al. 2003	14566095				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		123890	11877	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
119880	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Abe, T.  et al. 2001	11606170				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Diabetic medicine. 2001 Sep;18(9):726-31	CTLA4 gene polymorphism contributes to the mode of onset of diabetes with antiglutamic acid decarboxylase antibody in Japanese patients:genetic analysis of diabetic patients with antiglutamic acid decarboxylase antibody.		123890	11937	2	2001	 Our data showed that GAD-Ab+ Japanese patients presenting with Type 2 diabetes have shifted A allele while patients with abrupt onset have shifted G allele of CTLA4 gene polymorphism. Our results suggest that immunological function and polymorphism of the CTLA4 gene may contribute to the pathogenesis and progression of Type 1 diabetes.	Cohort 51 Patients with Type 2 diabetes who were GAD-Ab+ Japan 										
119881	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression	2	2q33	CTLA4	204440753	204446928		Bittencourt, P. L.  et al. 2003	12911663				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Brazil	CDC GDPinfo	1493	Hs.247824			Journal of gastroenterology and hepatology. 2003 Sep;18(9):1061-6	Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis.		123890	14345	2	2003	 Susceptibility to PBC in Brazil is not associated with HLA-DR and DQ antigens and CTLA-4 genotypes. TNFA alleles were not shown to influence disease progression.	Case primary biliary cirrhosis patients;Control healthy controls										
119876		diabetes, type 1; Graves' disease	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Mochizuki, M.  et al. 2003	12610047				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Diabetes care. 2003 Mar;26(3):843-7	Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disease in Japanese children.		123890	11257	2	2003	 We have demonstrated that a distinct association exists between the G allele of CTLA-4 and high values of GAD Ab, residual beta-cell function, and the absence of HLA-DRB1*0405.	Control:controls;Case:97/20 Japnese children with type 1 diabetes (n=97) and Graves disease (n=20)		CTLA-4	G	GAD Ab				Y		autoimmune thyroid disease
119877		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Spriewald, B. M.  et al. 2005	15708894				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Annals of the rheumatic diseases. 2005 Mar;64(3):457-61	Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis.		123890	11560	2	2005	 Disease susceptibility and clinical course in WG may be associated with distinct polymorphisms of cytokine and CTLA4 genes.	Case:32 patients with generalized Wegener's granulomatosis;Control:91 healthy controls										
119878	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Ide, A.  et al. 2004	14709415			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Journal of autoimmunity. 2004 Feb;22(1):73-8	Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes		123890	11716	2	2004	These results suggest that the IL-18 gene polymorphism is associated with a type 1 diabetes susceptibility, and there might be a gene-gene interaction between IL-18 gene with susceptible CTLA-4 gene.	Control:114 normal controls;Case:116 patients with type 1 diabetes										
119873	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Iwama, S.  et al. 2005	15640608				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		CDC GDPinfo	1493	Hs.247824			Hormone research. 2005 ;63(2):55-60	Association of HLA-DR, -DQ Genotype and CTLA-4 Gene Polymorphism with Graves' Disease in Japanese Children		123890	11234	2	2005	 the association of HLA-DRB1 and DQB1 genotype with susceptibility to childhood onset GD differs from that in adult onset GD, whereas the association between CTLA-4 gene polymorphism and childhood onset GD is similar to that in adult onset GD in Japanese individuals, but the association is weak.	Control healthy controls;Case:43 Japanese Graves' disease patients										
119874	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Petrone, A.  et al. 2005	15785242				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	CDC GDPinfo	1493	Hs.247824			Thyroid. 2005 Mar;15(3):232-8	CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population.		123890	11239	2	2005	These results highlight the role of the CTLA-4 locus, in addition to HLA, in the susceptibility to GD. Inside the CTLA-4 region, CT60 appears to be the most associated polymorphism to GD, however, further studies are needed to identify the etiologic variant.	Case:150 patients with Graves' disease;Control:301 controls matched for age and gender										
119875		diabetes, type 1; thyroid disease, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928			16352685				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2005	The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multi-centercollaborative study in Japan		123890	11253	2	2005	 Given the high frequency of AITD in patients with type 1 diabetes, these data suggest the possibility that the association of CTLA4 with type 1 diabetes in previous studies may have been secondary to AITD, suggesting the importance of subclassification of type 1 diabetes relative to AITD in genetic studies.											
119870	Y	oral squamous cell cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	2	2q33	CTLA4	204440753	204446928			16393254				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of oral pathology & medicine. 2006 Jan;35(1):51-4	Association of CTLA-4 gene polymorphism with oral squamous cell carcinoma		123890	9619	2	2006												
119871	Y	diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Cosentino, A.  et al. 2002	12021137				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Annals of the New York Academy of Sciences. 2002 Apr;958:337-40	CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults.		123890	11117	2	2002	The results of our study show that LADA is positively associated with the CTLA-4 A/G genotype, similarly to T1DM, thus providing further supporting evidence of the autoimmune origin of this form of diabetes mellitus of the adult.	Case:80 latent autoimmune diabetes patients;Control:85 healthy subjects										
119872		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hauache, O. M.  et al. 2005	16276008				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Brazil	CDC GDPinfo	1493	Hs.247824			Disease markers. 2005 ;21(3):139-45	Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes.		123890	11166	2	2005												
119865		Graves' disease	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Sahin, M.  et al. 2005	16137550				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Turkish		CDC GDPinfo	1493	Hs.247824			European journal of internal medicine. 2005 Sep;16(5):352-5	Cytotoxic T lymphocyte-associated molecule-4 polymorphisms in Turkish Graves' disease patients and association with probability of remission after antithyroid therapy.		123890	9614	2	2005	 We conclude that the occurrence of GD is linked to the A/G polymorphism of the CTLA molecule in the Turkish population and is associated with a lower chance of remission after discontinuation of PTU treatment.		propranolol PTU									
119866	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	2	2q33	CTLA4	204440753	204446928		Rajaee, A.  et al. 2005	16189655				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Iranian		CDC GDPinfo	1493	Hs.247824			Rheumatology international. 2005	Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients.		123890	9615	2	2005												
119867		rheumatoid arthritis; arthritis, juvenile	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Suppiah, V.  et al. 2005	16248997	(+49 A/G),  (CT60)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Experimental and molecular pathology. 2005	The CTLA4 + 49A/G and CT60 polymorphisms and chronic inflammatory arthropathies in Northern Ireland.		123890	9616	2	2005												
119861	Y	Graves' disease; Hashimoto's thyroiditis	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ban, Y.  et al. 2005	16040335	(CT60)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Autoimmunity. 2005 Mar;38(2):151-3	Association of a CTLA-4 3' untranslated region (CT60) single nucleotide polymorphism with autoimmune thyroid disease in the Japanese population.		123890	9610	2	2005												
119862		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Eye Diseases|Erythema Nodosum|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Sallakci, N.  et al. 2005	16045690	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Turkish	Turkey	CDC GDPinfo	1493	Hs.247824			Clinical and experimental dermatology. 2005 Sep;30(5):546-50	CTLA-4 gene 49A/G polymorphism in Turkish patients with Bechet's disease.		123890	9611	2	2005												
119864		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928		Han, S.  et al. 2005	16133179	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human genetics. 2005 Nov;118(1):123-132	Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis.		123890	9613	2	2005												
119857	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Solerio, E.  et al. 2005	15888281				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	CDC GDPinfo	1493	Hs.247824			Digestive and liver disease. 2005 Mar;37(3):170-5	CTLA4 gene polymorphism in Italian patients with colorectal adenoma and cancer.		123890	9606	2	2005	 There is no significant correlation between CTLA4 A+49G polymorphism and the risk of colorectal neoplasm among Italian Caucasians.	Case:132/186 Italian Caucasian patients who underwent colonoscopy with colorectal cancer (n=132) and colorectal adenoma (n=186);Control:238 healthy controls who underwent colonoscopy										
119858		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Kavvoura, F. K.  et al. 2005	15961581				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			American journal of epidemiology. 2005 Jul;162(1):16-Mar	CTLA-4 gene polymorphisms and susceptibility to type 1 diabetes mellitus: a HuGE Review andmeta-analysis.		123890	9607	2	2005	This meta-analysis demonstrates that the CTLA-4*G genotype is associated with type 1 diabetes.											
119859		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hou, W.  et al. 2005	15973119				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	CDC GDPinfo	1493	Hs.247824			Inflammatory bowel diseases. 2005 Jul;11(7):653-6	CTLA-4 gene polymorphisms in Chinese patients with ulcerative colitis.		123890	9608	2	2005	 The C-318T and A+49G polymorphisms of the CTLA-4 gene were not associated with UC in Chinese Han patients.											
119854	N	aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Svahn, J.  et al. 2005	15812539	(+49 A/G), ( -318C>T)		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian		CDC GDPinfo	1493	Hs.247824			Bone marrow transplantation. 2005 Mar;35 Suppl 1:S89-92	The polymorphisms -318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population.		123890	9603	2	2005	This study indicates that the polymorphisms -318C>T and 49A>G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression.	Control:100 normal controls;Case:67 patients with acquired aplastic anemia										
119855	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Complications|Diabetic Ketoacidosis|Chronic Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Mojtahedi, Z.  et al. 2005	15860238	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Iranian	Iran	CDC GDPinfo	1493	Hs.247824			Diabetes research and clinical practice. 2005 May;68(2):111-6	CTLA-4 +49 A/G polymorphism is associated with predisposition to type 1 diabetes in Iranians.		123890	9604	2	2005	In conclusion, the result of this study in combination with the previous reports of other ethnic populations showed that CTLA-4 +49 A/G polymorphism confers genetic susceptibility to type 1 diabetes, particularly in younger individuals.	Case:109 patients with type 1 diabetes;Control:331 healthy subjects										
119856	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hattori, N.  et al. 2005	15881277				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Mar;22(1):27-32	Cytotoxic T-lymphocyte antigen 4 gene polymorphisms in sarcoidosis patients.		123890	9605	2	2005	 The CTLA-4 polymorphisms are not associated with disease susceptibility of sarcoidosis, but these genetic variations significantly influence phenotypes of sarcoidosis.	Control:100 healthy control subjects;Case:106 sarcoidosis patients										
119851	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Liang, H.  et al. 2004	15711022	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Endocrine. 2004 Nov;25(2):105-9	Association between CTLA-4 +49 A/G polymorphism and type 1B diabetes in Japanese population.		123890	9600	2	2004	In conclusion, the +49 A/G polymorphism of CTLA-4 gene was associated with the occurrence of type 1B diabetes in a Japanese population, and type 1B dia-betics with a GG genotype were associated with more severe cell dysfunction than their type 1A counterparts.	Case:30 Japanese type 1 diabetic patients (14 type 1B and 16 type 1A);Control:40 non-diabetic subjects										
119852	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Rueda, B.  et al. 2005	15784471				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human immunology. 2005 Mar;66(3):321-5	CTLA4/CT60 polymorphism is not relevant in susceptibility to autoimmune inflammatory intestinal disorders.		123890	9601	2	2005	Therefore, our results suggest that the CTLA4/CT60 polymorphism does not play a major role in inflammatory intestinal disorders.	Control:454 unrelated healthy individuals;Case:528 Spanish patients with IBD (284 with Crohn disease and 244 with ulcerative colitis)										
119853	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Wang, X.  et al. 2005	15790344	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	CDC GDPinfo	1493	Hs.247824			American journal of reproductive immunology (New York, NY :  1989). 2005 Feb;53(2):100-5	Association of the A/G polymorphism at position 49 in exon 1 of CTLA-4 with the susceptibility to unexplained recurrent spontaneous abortion in the Chinese population.		123890	9602	2	2005	 Our findings suggest that A/G polymorphism in exon-1 of CTLA-4 is associated with the immunopathogenesis of RSA, and it confers susceptibility to RSA in Chinese population.	Control:117 women with normal pregnancy history;Case:168 patients with unexplained recurrent spontaneous:abortion:Shanghai, China										
119848	Y	vitiligo; autoimmune disease	IMMUNE	IMM	Vitiligo|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Blomhoff, A.  et al. 2005	15649153				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Pigment cell research. 2005 Feb;18(1):55-8	CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases.		123890	9597	2	2005	The results indicate that the polymorphisms in the CTLA4 gene region confer susceptibility to vitiligo when occurring together with other autoimmune diseases, but not in patients with isolated vitiligo. This raises the possibility that there are two distinct forms of vitiligo where only a subgroup of patients may have a disease caused by the autoimmune destruction of melanocytes.	Case:100 vitiligo patients:UK;Control:140 healthy controls										
119849	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Fukazawa, T.  et al. 2005	15652423				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2005 Feb;159(2-Jan):225-9	CTLA-4 gene polymorphism is not associated with conventional multiple sclerosis in Japanese		123890	9598	2	2005	Our results suggest that CTLA-4 gene polymorphisms are neither conclusively related to susceptibility nor to the clinical characteristics of MS, especially in Japanese patients with conventional/classical form and clinical features identical to those of their counterparts in Western countries.	Case:133 Japanese multiple sclerosis patients;Control:156 healthy controls										
119850	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lee, Y. H.  et al. 2005	15688186				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human genetics. 2005 Apr;116(5):361-7	CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis.		123890	9599	2	2005	In conclusion, this meta-analysis supports the CTLA-4 exon-1 +49 (A/G) polymorphism influencing the risk for developing SLE, especially in Asians.											
119845	Y	myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Thymus Hyperplasia	2	2q33	CTLA4	204440753	204446928		Mao, H.  et al. 2004	15583985				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Zhonghua yi xue yi chuan xue za zhi. 2004 Dec;21(6):574-8	[Studies on the genetic pathogenesis of myasthenia gravis caused by CTLA-4 gene polymorphism.]		123890	9594	2	2004	 There are strong positive linkages among four SNPs. C/T-1772 and A/G-1661 polymorphisms can result in inefficient transcription of CTLA-4 gene. T>C-1772 mutation also affects gene splicing. These SNPs may constitute a factor of susceptibility to disease.	Control healthy controls;Case myasthenia gravis patients										
119846		IgE levels	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Chang, J. C.  et al. 2004	15610363				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Pediatric allergy and immunology. 2004 Dec;15(6):506-12	Gender-limited association of cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphism with cord blood IgE levels		123890	9595	2	2004	Association of the CTLA-4 (+49) polymorphism with elevated CB IgE levels was found only in female infants. Newborn infants with the (+49, GG and -318, CC) genotype tended to have a low rate of elevated CB IgE.	Cohort 644 consecutive umbilical cord bloods 										
119847	N	Addison's disease	IMMUNE	IMM	Addison Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Perez de Nanclares, G.  et al. 2004	15621571				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Autoimmunity. 2004 Sep-Nov;37(7-Jun):453-6	No evidence of association of CTLA4 polymorphisms with Addison's disease.		123890	9596	2	2004	 Our results did not show any evidence of association of any of the CTLA4 gene polymorphisms with the disease. This might result from population-specific differences in genetic and environmental susceptibility to AD.	Control:111 unrelated healthy subjects from the general:populations;Case:57 patients with autoimmune Addison's disease (autoimmunity for anti 21-hydroxylase was:confirmed)										
119842	Y	Graves' disease; ophthalmopathy, Graves'	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Frydecka, I.  et al. 2004	15507878	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish		CDC GDPinfo	1493	Hs.247824			Archivum immunologiae et therapiae experimentalis. 2004 Sep-Oct;52(5):369-74	CTLA-4 (CD152) gene polymorphism at position 49 in exon 1 in Graves' disease in a Polish population of the Lower Silesian region.		123890	9591	2	2004	 Our results showed that the AA genotype in patients with GD is associated with a lower risk of GO severity.	Control:154 matched healthy subjects from the Lower Silesia:region;Case:99 unrelated Polish patients with Graves' disease,of whom 50 had clinically evident Graves':ophtalmopathy:Poland										
119843	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Parks, C. G.  et al. 2004	15540511				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	African Americans	Southeastern United States	CDC GDPinfo	1493	Hs.247824			Lupus. 2004 ;13(10):784-91	CTLA-4 gene polymorphisms and systemic lupus erythematosus in a population-based study of whites and African-Americans in the southeastern United States.		123890	9592	2	2004	These findings suggest allelic variation in this region of CTLA4 is not a major independent risk factor for SLE, but may contribute to risk of disease in younger African-Americans or in the presence of certain immunogenetic markers.	Case:230 recently diagnosed systemic lupus erythematosus:patients;Control:276:controls										
119844		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Orozco, G.  et al. 2004	15546339	CT60			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Spanish	Spain	CDC GDPinfo	1493	Hs.247824			Tissue antigens. 2004 Dec;64(6):667-70	Cytotoxic T-lymphocyte antigen-4-CT60 polymorphism in rheumatoid arthritis.		123890	9593	2	2004	In conclusion, our results do not support an association between CT60A/G polymorphism and susceptibility to RA in the Spanish population, although the contribution of other positions located within the 3' region of the CTLA-4 gene to RA susceptibility cannot be discarded.	Control:398:controls;Case:433 Spanish rheumatoid arthritis patients										
119839	Y	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Hepatitis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Fan, L. Y.  et al. 2004	15378793				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	CDC GDPinfo	1493	Hs.247824			World journal of gastroenterology. 2004 Oct;10(20):3056-9	Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population.		123890	9588	2	2004	 Polymorphisms of CTLA-4 gene probably confer susceptibility to AIH and PBC in Chinese population.	Control:160 healthy controls;Case:62/77 Chinese autoimmune hepatitis patients, 77 Chinese primary biliary cirrhosis patients										
119840	Y	cirrhosis, biliary primary; hepatitis, autoimmune	UNKNOWN	UNK		2	2q33	CTLA4	204440753	204446928		Fan, L.  et al. 2004	15476165	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese		CDC GDPinfo	1493	Hs.247824			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):440-3	[Study on the relationship of CTLA-4 -318, +49 polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in a Chinese population]		123890	9589	2	2004	 The above findings suggest that the polymorphisms of CTLA-4 gene probably confer susceptibility to AIH and PBC in the Chinese population.	Control:160 healthy controls;Case:62/77 Chinese autoimmuni hepatitis patients (n=62) and Chinese primary biliary cirrhosis patients										
119841	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Xu, A. P.  et al. 2004	15485777	( -1722)		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese		CDC GDPinfo	1493	Hs.247824			Di yi jun yi da xue xue bao. 2004 Oct;24(10):1107-12	[Association of CTLA-4 promoter -1722 polymorphism with systemic lupus erythematosus in Chinese.]		123890	9590	2	2004	 CTLA-4 promoter -1722 polymorphism appears to be associated with SLE susceptibility in southern Chinese population.	Case:103 SLE patients (13 males and 90 females with an average age of 33.63+/-12.58 years) southern China;Control:110 healthy ethnically matched controls (21 males and 89 females with an average age of 27.49+/-8.60:years)										
119837	Y	Addison's disease	IMMUNE	IMM	Addison Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Blomhoff, A.  et al. 2004	15240634				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Great Britain|Norway	CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3474-6	Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.		123890	9586	2	2004	This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.	Case:134 patients with Addison's disease Norway and United Kingdom;Control:413 healthy controls										
119838		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Haller, K.  et al. 2004	15305888	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			European journal of clinical investigation. 2004 Aug;34(8):543-8	Type 1 diabetes is insulin -2221 MspI and CTLA-4 +49 A/G polymorphism dependent.		123890	9587	2	2004	 There exists a significant association between the C-allele of -2221 MspI in the insulin gene and type 1 diabetes. The CTLA-4 G-allele is also positively correlated with type 1 diabetes. According to the regression model the investigated gene polymorphisms are independent risk factors for development of type 1 diabetes in the Estonian population. We propose that -2221 MspI is a good marker for evaluation of risk of insulin gene haplotype in type 1 diabetes patients.	Control:158 healthy controls;Case:69/301 type 1 (n = 69), type 2 diabetes (n = 301) patients										
119833	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Nakkash-Chmaisse, H.  et al. 2004	15182328				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Lebanon	CDC GDPinfo	1493	Hs.247824			European journal of immunogenetics. 2004 Jun;31(3):141-3	CTLA-4 gene polymorphism and its association with Graves' disease in the Lebanese population.		123890	9582	2	2004	This suggests that the CTLA-4 gene might play a role in the development of Graves' disease in the Lebanese population.	Case:34 patients with Graves' disease:Lebanon;Control:38 healthy individuals										
119834	Y	celiac disease	IMMUNE	IMM	Celiac Disease	2	2q33	CTLA4	204440753	204446928		Van Belzen, M. J.  et al. 2004	15199380	(+49 A/G),  CT60			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Dutch	Netherlands	CDC GDPinfo	1493	Hs.247824			European journal of human genetics. 2004 Sep;12(9):782-5	CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.		123890	9583	2	2004	These results indicate the involvement of the CTLA4 gene in coeliac disease development. The haplotype carrying the CT60 G-allele was shown to be associated with lower mRNA levels of the soluble CTLA-4 isoform, providing a possible mechanism for the T-cell-mediated destruction of the small intestine.	Control:controls;Case celiac disease patients the Netherlands										
119835	Y	cirrhosis, alcoholic; liver disease	UNKNOWN	UNK	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Valenti, L.  et al. 2004	15208156	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	CDC GDPinfo	1493	Hs.247824			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Jul-Aug;39(4):276-80	Cytotoxic T-lymphocyte antigen-4 A49G polymorphism is associated with susceptibility to and severity of alcoholic liver disease in Italian patients.		123890	9584	2	2004	 The CTLA-4 polymorphic G allele, probably by interfering with the immune response, may confer susceptibility to ALD and, in homozygous state, to alcoholic cirrhosis.	Case:183/115/102 patients with chronic alcoholic liver disease (n=183, 61 cirrhosis), end-stage HCV cirrhosis (n=115 ) and non-alcoholic fatty liver disease:(n=102);Control:93/43 healthy subjects (n=93) and heavy drinkers without liver disease (n=43)										
119830	Y	oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Shin, Y. N.  et al. 2004	15061706				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Taiwan	CDC GDPinfo	1493	Hs.247824			Journal of oral pathology & medicine. 2004 Apr;33(4):200-3	Association of CTLA-4 gene polymorphism with oral submucous fibrosis in Taiwan.		123890	9579	2	2004	 This is the first report that the CTLA-4 +49 G allele confers an increased risk of OSF in Taiwan.	Control:147 healthy controls;Case:62 patients with oral submucous fibrosis:Taiwan										
119831	Y	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Monne, M.  et al. 2004	15114591				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			American journal of hematology. 2004 May;76(1):14-8	Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and susceptibility to non-Hodgkin's lymphoma.		123890	9580	2	2004	The data obtained indicate that the CTLA-4+49A/G polymorphism may have a role in genetic susceptibility to NHL.	Cohort patients with non-Hodgkin's lymphoma 										
119832	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bilinska, M.  et al. 2004	15180809				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Acta neurologica Scandinavica. 2004 Jul;110(1):67-71	Progression of multiple sclerosis is associated with exon 1 CTLA-4 gene polymorphism.		123890	9581	2	2004	 The results of our study indicate that CTLA-4 (A49G) exon 1 polymorphism is associated with MS progression.	Case:152 multiple sclerosis patients;Control:154:controls										
119827	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Recurrence	2	2q33	CTLA4	204440753	204446928		Wang, P. W.  et al. 2004	14715845				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Taiwan	CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):169-73	Cytotoxic T lymphocyte-associated molecule-4 polymorphism and relapse of graves' hyperthyroidism after antithyroid withdrawal		123890	9576	2	2004	We conclude that  the A/G polymorphism of the cytotoxic T lymphocyte-associated molecule-4 gene affects the progress of GD. The G/G genotype is associated with poor outcome.	Case:148 Chinese Graves' disease patients;Control:171:controls										
119828	Y	asthma; dermatitis and eczema; rhinitis	IMMUNE	IMM	Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928		Yang, K.  et al. 2004	14720259	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Clinical and experimental allergy. 2004 Jan;34(1):32-7	Polymorphism of the immune-braking gene CTLA-4 (+49) involved in gender discrepancy of serum total IgE levels and allergic diseases		123890	9577	2	2004	In females only, the CTLA-4 (+49), but not the IL-4 promoter (-590), polymorphism was significantly associated with elevation of total IgE levels and allergic rhinitis. Here, we have, for the first time, demonstrated a gender-linked genetic relationship with allergic disease.	Cohort 1,333 participants aged 19-49 years 										
119829	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	2	2q33	CTLA4	204440753	204446928		Jiang, Y.  et al. 2004	15059373				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese		CDC GDPinfo	1493	Hs.247824			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Mar;43(3):191-4	[Association between the cytotoxic T lymphocyte antigen-4 gene microsatellite polymorphism and inflammatory bowel diseases in the Chinese]		123890	9578	2	2004	 CTLA-4 gene microsatellite polymorphism was strongly associated with ulcerative colitis in Chinese Han patients in Hubei province.	Control:140 healthy controls;Case:54/14 Chinese Han patients with IBD (54 ulcerative colitis and 14 Crohn's disease):China										
119824		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Aguilar, F.  et al. 2003	14522090				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Spanish	Spain	CDC GDPinfo	1493	Hs.247824			Human immunology. 2003 Oct;64(10):936-40	CTLA4 polymorphism in spanish patients with systemic lupus erythematosus		123890	9573	2	2003	No differences in the distribution of the genotype frequencies between patients and controls were found in any case. Our results from the Spanish autochthonous population differ from those found in the Korean population regarding the involvement of the polymorphism located at -1722 in the susceptibility to SLE.	Control:194 ethnically matched volunteer bone marrow donors;Case:276 Spanish autochthonous patients										
119825	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Kalantari, T.  et al. 2003	14567561				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Iranian	Iran	CDC GDPinfo	1493	Hs.247824			Autoimmunity. 2003 Aug;36(5):313-6	Exon-1 polymorphism of ctla-4 gene in Iranian patients with Graves' disease.		123890	9574	2	2003	In conclusion, consistent with the results of most other studies, the presence of a G allele in position 49 of ctla-4 exon-1 is associated with susceptibility to GD in Iranian population.	Case:90 Iranian Graves' disease patients:Iran;Control:90 age/sex matched normal healthy controls										
119826		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Handa, T.  et al. 2003	14620161				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		CDC GDPinfo	1493	Hs.247824			Sarcoidosis, vasculitis, and diffuse lung diseases	Cytotoxic T-lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism affects lymphocyte profiles in bronchoalveolar lavage of patients with sarcoidosis.		123890	9575	2	2003	 CTLA-4 exonl polymorphism might affect BAL fluid lymphocyte profiles in Japanese sarcoidosis patients.	Case:135 Japanese sarcoidosis patients;Control:97:controls										
119821	N	hepatitis	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bittencourt, P. L.  et al. 2003	12873588				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Brazil	CDC GDPinfo	1493	Hs.247824			The American journal of gastroenterology. 2003 Jul;98(7):1616-20	Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil.		123890	9570	2	2003	 Susceptibility to AIH-1 and AIH-2 in Brazilian patients is not influenced by exon 1 CTLA-4 gene polymorphisms at position 49.	Case:106/26 patients with autoimmune hepatitis type 1 (n=106) and autoimmune hepatitis type 2 (n=26):Brazil;Control:67 healthy control subjects										
119822	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q33	CTLA4	204440753	204446928		Bocko, D.  et al. 2003	12894875	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish	Poland	CDC GDPinfo	1493	Hs.247824			Archivum immunologiae et therapiae experimentalis. 2003 ;51(3):201-5	Lack of association between an exon 1 CTLA-4 gene polymorphism A(49)G and multiple sclerosis in a Polish population of the Lower Silesia region.		123890	9571	2	2003	The distribution of CTLA-4 exon 1 A(49)G genotype, phenotype and allele frequencies did not differ between patients with MS and healthy subjects.	Control:101 age- and sex-matched healthy subjects;Case:102 unrelated Polish MS patients Lower Silesia region, Poland										
119823	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lee, C. S.  et al. 2003	14505215				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	Taiwan	CDC GDPinfo	1493	Hs.247824			Clinical rheumatology. 2003 Sep;22(3):221-4	Association of CTLA4 gene A-G polymorphism with rheumatoid arthritis in Chinese.		123890	9572	2	2003	We concluded that, the CTLA4 49 A-G polymorphism is associated with RA in Chinese patients from Taiwan.	Case:186 unrelated Chinese adults with rheumatoid arthritis:Taiwan;Control:203 randomly selected normal adults										
119818	Y	anemia; thrombocytopenic purpura, idiopathic	HEMATOLOGICAL	HEM	Leukemia, Lymphocytic, Chronic|Anemia, Hemolytic, Autoimmune|Purpura, Thrombocytopenic, Idiopathic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Pavkovic, M.  et al. 2003	12555221				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			American journal of hematology. 2003 Feb;72(2):147-9	CTLA-4 exon 1 polymorphism in patients with autoimmune blood disorders.		123890	9566	2	2003	The obtained data indicate that the G allele of CTLA-4 predisposes to the development of AIHA, particularly among patients with CLL.	Control:100/100 healthy individuals (n=100) and CLL patients without clinical evidence for an autoimmune disease:(n=100);Case:50/60 patients with autoimmune hemolytic anemia (AIHA), of which 20 had idiopathic AIHA and 30 had AIHA and chronic lymphocytic leukemia (CLL) (n=50) and patients with immune thrombocytopenic purpura:(n=60)										
119819	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bouqbis, L.  et al. 2003	12618861	(-1661G allele)		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Morocco	CDC GDPinfo	1493	Hs.247824			Genes and immunity. 2003 Mar;4(2):132-7	Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.		123890	9567	2	2003	The present work stresses the need to perform exhaustive analysis of the promoter region polymorphisms in order to detect association with the disease.	Case South Moroccan type 1 diabetics;Control:controls										
119820	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic	2	2q33	CTLA4	204440753	204446928		Yee, L. J.  et al. 2003	12696006				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of infectious diseases. 2003 Apr;187(8):1264-71	Association of CTLA4 polymorphisms with sustained response to interferon and ribavirin therapy for chronic hepatitis C virus infection.		123890	9568	2	2003	CTLA4 49G in exon 1 alone and in a haplotype with -318C promoter is associated with sustained IFNalpha+R response in white patients with HCV genotype 1 infection.	Case:79 Caucasian interferon and ribavirin therapy nonresponders with chronic hepatitis C virus;Control:79 Caucasian responders with chronic hepatitis C virus	interferon ribavirin									
119815	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	2	2q33	CTLA4	204440753	204446928		Xia, B.  et al. 2002	12465728				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese, Dutch	China|Netherlands	CDC GDPinfo	1493	Hs.247824			Scandinavian journal of gastroenterology. 2002 Nov;37(11):1296-300	CTLA4 gene polymorphisms in Dutch and Chinese patients with inflammatory bowel disease		123890	9563	2	2002	 C-318T and A+49G CTLA4 gene polymorphisms and their haplotypes are not associated in Dutch Caucasian patients with IBD and in Chinese patients with UC.	Case:139/163 unrelated Dutch Caucasian patients with ulcerative colitis (n=139) and patients with Crohn disease:(n=163);Control:174 healthy controls of Dutch Caucasian origin;Case:35 Chinese Han patients with ulcerative colitis;Control:62 healthy Chinese Han controls										
119816	Y	diabetes, type 2; diabetes, type 1	METABOLIC	MET	Diabetes Mellitus	2	2q33	CTLA4	204440753	204446928		Ma, Y.  et al. 2002	12515273				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	CDC GDPinfo	1493	Hs.247824			Chinese medical journal. 2002 Aug;115(8):1248-50	CTLA-4 gene A/G polymorphism associated with diabetes mellitus in Han Chinese		123890	9564	2	2002	 CTLA-4 49 AA is protective from diabetes mellitus, whereas, CTLA-4 49 G allele (both as homozygotes and as heterozygotes ) confers an increased risk of diabetes mellitus.	Case:31/31 type 1 (n=31) and type 2 (n=31) diabetics;Control:36:controls										
119817	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bednarczuk, T.  et al. 2003	12534352				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan|Europe	CDC GDPinfo	1493	Hs.247824			European journal of endocrinology. 2003 Jan;148(1):13-8	Association of cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves' ophthalmopathy in European and Japanese populations		123890	9565	2	2003	 (i) Allele G and G/G genotype confer genetic susceptibility to GD; (ii) CTLA-4 A49G polymorphism is not associated with the development of GO; (iii) different non-genetic factors may contribute to GO in different populations.	Case:264/319 Caucasian patients with Graves' disease (n=264), of which 95 had clinically evident GO (NOSPECS class >/=3) and Japanese patients with Grave's disease (n=319), of which 99 had ophthalmopathy										
119812	N	thyroiditis, Hashimoto's	IMMUNE	IMM	Deltaretrovirus Infections|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Tomoyose, T.  et al. 2002	12225635				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Japan	CDC GDPinfo	1493	Hs.247824			Thyroid. 2002 Aug;12(8):673-7	Cytotoxic T-lymphocyte antigen-4 gene polymorphisms and human T-cell lymphotrophic virus-1 infection:their associations with Hashimoto's thyroiditis in Japanese patients.		123890	9560	2	2002	Frequency of polymorphism in the promoter did not differ between patients with HT and controls, nor between controls with and without HTLV-1 Ab. HTLV-1 infection is not associated with CTLA-4 polymorphisms in either HT or controls. HTLV-1 infection is not regulated by genetic factor such as CTLA-4, and may affect occurrence of HT as an independent purely environmental factor.	Case:143 Japanese patients with Hashimoto's thyroiditis;Control:199:controls	human T lymphotropic virus									
119813	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Hudson, L. L.  et al. 2002	12384790				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Human genetics. 2002 Oct;111(5-Apr):452-5	CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant associationwith a determinant in the promoter region.		123890	9561	2	2002	These results show that allelic variation at the -1722 site influences susceptibility to SLE. This is the first report to our knowledge implicating CTLA-4genotypes at the -1722 locus in susceptibility to any disease.	Case:130 systemic lupus erythematosus patients;Control:200 ethnically matched controls										
119814	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lee, Y. H.  et al. 2002	12455815	(+49 A/G),  promoter(-318)		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean	Korea	CDC GDPinfo	1493	Hs.247824			Scandinavian journal of rheumatology. 2002 ;31(5):266-70	No association of polymorphisms of the CTLA-4 exon 1(+49) and promoter(-318) genes with rheumatoid arthritis in the Korean population.		123890	9562	2	2002	Our data show that the polymorphisms within the CTLA-4 exon 1(+49) and promoter(-318) genes are not associated with susceptibility to RA and its clinical/serological manifestations in the Korean population.	Case:86 rheumatoid arthritis patients:Korea;Control:86 healthy controls										
119809	Y	bronchial hyperresponsiveness	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	2	2q33	CTLA4	204440753	204446928		Lee, S. Y.  et al. 2002	12114354				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Chest. 2002 Jul;122(1):171-6	Association of asthma severity and bronchial hyperresponsiveness with a polymorphism in the cytotoxic T-lymphocyte antigen-4 gene.		123890	9557	2	2002	 The CTLA-4 promoter (-318 C/T) T allele may serve as a clinically useful marker of severe asthma. The CTLA-4 exon 1 (+49 A/G) polymorphism may have a disease-modifying effect in asthmatic airways.	Case:88 asthmatic patients;Control:88 healthy control subjects										
119810	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Wood, J. P.  et al. 2002	12121283				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			European journal of immunogenetics. 2002 Aug;29(4):347-9	A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes.		123890	9558	2	2002	Thus, the CD28 intron 3 polymorphism does not appear to be associated with susceptibility to type 1 diabetes.	Case:176 type 1 diabetic patients;Control:220 healthy controls										
119811	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Andreevskii, T. V.  et al. 2002	12173468	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Russian	Russia	CDC GDPinfo	1493	Hs.247824			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):643-8	[Polymorphism A/G in position +49 of CTLA4 exon 1 in multiple sclerosis in Russians]		123890	9559	2	2002	The results showed that the CTLA4 dimorphism does not affect susceptibility to MS in ethnic Russians, be these stratified or not with regard to DRB1 alleles corresponding to serologic specificities DR1 to DR16.	Case:168 multiple sclerosis:Russia;Control:209 healthy subjects										
119806	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Yung, E.  et al. 2002	12030917				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China|Hong Kong	CDC GDPinfo	1493	Hs.247824			Clinical endocrinology. 2002 May;56(5):649-53	CTLA-4 gene A-G polymorphism and childhood Graves' disease.		123890	9554	2	2002	 This study confirms that CTLA-4 49 A-G polymorphism is associated with Graves' disease in Chinese children. The CTLA-4 49 G allele confers an increased risk of childhood Graves' disease.	Case:123 Chinese children with Graves' disease (104 girls and 19 boys);Control:158 racially matched healthy controls										
119807		Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Kinjo, Y.  et al. 2002	12050220	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2593-6	Remission of Graves' hyperthyroidism and A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte-associated molecule-4 gene.		123890	9555	2	2002	Graves' patients with the G allele need to continue ATD treatment for longer periods.	Case Graves' disease patients;Control:controls	antithyroid drug									
119808	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Zaletel, K.  et al. 2002	12097196				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Thyroid. 2002 May;12(5):373-6	The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed Graves' disease.		123890	9556	2	2002	In conclusion, our findings suggest that G allele carrying genotype of the CTLA-4 gene influences higher production of TPOAb and TgAb, and therefore, support the hypothesis that CTLA-4 gene plays a major role in TAb production.	Cohort 67 patients with newly diagnosed Graves' disease 										
119803		Graves' disease	IMMUNE	IMM	Autoimmune Diseases|Graves Disease	2	2q33	CTLA4	204440753	204446928		Kouki, T.  et al. 2002	11936461				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of endocrinological investigation. 2002 Mar;25(3):208-13	Relation of three polymorphisms of the CTLA-4 gene in patients with Graves' disease.		123890	9551	2	2002	It is not possible at this time to determine their unique relation to CTLA-4 function. Studies relating each polymorphism to CTLA4 function are required to determine whether one, or both, polymorphism(s) promote autoimmune disease.	Case:120 Graves' disease patients										
119804	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q33	CTLA4	204440753	204446928		Jun, T. Y.  et al. 2002	12007590				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean	Korea	CDC GDPinfo	1493	Hs.247824			Psychiatry research. 2002 May;110(1):19-25	Polymorphism of CTLA-4 gene at position 49 of exon 1 may be associated with schizophrenia in the Korean population.		123890	9552	2	2002	This study suggests a putative role of the CTLA-4 gene polymorphism at position 49 of exon 1 for schizophrenia in the Korean population, although the detailed mechanisms remained to be elucidated.	Case:116 schizophrenic patients:Korea;Control:149 normal healthy Koreans from the Catholic Hemopoietic Stem Cell Information Bank										
119805	Y	Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Giscombe, R.  et al. 2002	12022356			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The Journal of rheumatology. 2002 May;29(5):950-3	Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis.		123890	9553	2	2002	 The CTLA-4 SNP in the promoter region at position -318 is associated with WG. The loss of linkage disequilibrium between allele A of CDS 1 and the short 86 bp in the (AT)n in patients indicates that the promoter SNP and the (AT)n polymorphism are independent genetic risk factors.	Control:100 ethnically matched healthy controls;Case:32 patients with Wegener's granulomatosis										
119800		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Thymus Hyperplasia	2	2q33	CTLA4	204440753	204446928		Wang, X. B.  et al. 2002	11857062			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Sweden	CDC GDPinfo	1493	Hs.247824			Genes and immunity. 2002 Feb;3(1):46-9	CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis.		123890	9548	2	2002	Our results suggest that the SNP at position +49 in CDS1 might be associated with the manifestations of MG.	Case myasthenia gravis patients;Control controls not otherwise specified										
119801	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Vaidya, B.  et al. 2002	11886967				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Rheumatology (Oxford, England). 2002 Feb;41(2):180-3	An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies.		123890	9549	2	2002	 The association between the CTLA4 G allele and early RA is largely explained by individuals with RA who have coexisting autoimmune endocrinopathies.	Case:123 unrelated Caucasian probands with early rheumatoid:arthritis north-east of England;Control:349 locally ethnically matched controls										
119802	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928		Rodriguez, M. R.  et al. 2002	11916172				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Spain	CDC GDPinfo	1493	Hs.247824			Human immunology. 2002 Jan;63(1):76-81	Association of the CTLA4 3' untranslated region polymorphism with the susceptibility to rheumatoid arthritis.		123890	9550	2	2002	We conclude that  the strongest association between CTLA4 gene polymorphisms and RA susceptibility occurs with the 3' UTR polymorphism.	Case:141 Spanish patients (38 men and 103 women) with rheumatoid arthritis;Control:194 ethnically-matched healthy controls										
119797	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Kamoun Abid, H.  et al. 2001	11776689				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Tunisian	Tunisia	CDC GDPinfo	1493	Hs.247824			Pathologie-biologie. 2001 Dec;49(10):794-8	[Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population]		123890	9545	2	2001	This results indicate that CTLA-4/G allele was significantly associated with predisposition to type 1 diabetes in our group from Tunisian population.	Control:48 healthy subjects;Case:74 type 1 diabetic patients:Tunisia										
119798		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases	2	2q33	CTLA4	204440753	204446928		Mack, R.  et al. 2001	11788096	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Jewish		CDC GDPinfo	1493	Hs.247824			Genetic testing. 2001 ;5(3):269-71	Prevalence of CTLA-4 polymorphism A49G in Ashkenazi Jews.		123890	9546	2	2001	The low prevalence of the autoimmune-associated G allele among Ashkenazi Jewish and Spanish populations may explain a lower than expected incidence of diabetes in HLA-susceptible populations.	Cohort 100 DNA samples from Ashkenazi Jews 										
119799	Y	hypothyroidism, autoimmune	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Nithiyananthan, R.  et al. 2002	11842815				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Great Britain	CDC GDPinfo	1493	Hs.247824			Thyroid. 2002 Jan;12(1):6-Mar	Polymorphism of the CTLA-4 gene is associated with autoimmune hypothyroidism in the United Kingdom.		123890	9547	2	2002	These results suggest that the CTLA-4 gene region on chromosome 2q33 is a susceptibility locus for autoimmune hypothyroidism in the United Kingdom.	Case:158 Caucasian patients with autoimmune hypothyroidism:Britain;Control:384 Caucasian control subjects										
119794	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Lee, Y. H.  et al. 2001	11678447			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Lupus. 2001 ;10(9):601-5	Polymorphisms of the CTLA-4 exon 1 and promoter gene in systemic lupus erythematosus.		123890	9541	2	2001	In conclusion, no correlation was found between CTLA-4 exon 1 (+49) and promoter (-318) polymorphisms and SLE in our study.	Case:80 systemic lupus erythematosus patients;Control:86 healthy control subjects										
119795	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Liu, M. F.  et al. 2001	11678454			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese		CDC GDPinfo	1493	Hs.247824			Lupus. 2001 ;10(9):647-9	CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus.		123890	9542	2	2001	The preliminary study does not suggest an association of the known polymorphism in exon 1 and promoter of CTLA-4 gene with Chinese SLE. However, SLE is a very heterogeneous syndrome and CTLA-4 gene polymorphism might correlate with some specific clinical features. To exploring this possibility, subgroup analysis in more patients needs to be performed.	Case:81 patients with systemic lupus erythematosus;Control:81 normal controls										
119796	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hadj Kacem, H.  et al. 2001	11726229				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Tunisian	Tunisia	CDC GDPinfo	1493	Hs.247824			Clinical immunology (Orlando, Fla). 2001 Dec;101(3):361-5	CTLA-4 gene polymorphisms in Tunisian patients with Graves' disease.		123890	9544	2	2001	In conclusion, these results show that the CTLA-4 gene, or one closely associated with it, confers susceptibility to GD in a Tunisian population.	Case Grave's disease patients;Control not specified in abstract										
119791	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		McCormack, R. M.  et al. 2001	11477480				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Northern Ireland	CDC GDPinfo	1493	Hs.247824			Genes and immunity. 2001 Jun;2(4):233-5	Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population.		123890	9538	2	2001	Our results suggest that the CTLA4 gene may play a minor role in the overall genetic predisposition to type 1 diabetes in this UK population.	Case:144 type 1 diabetic patients northern Ireland:297 nuclear families;Control:307 controls not otherwise specified in abstract										
119792	N	depression	PSYCH	PSY	Depressive Disorder, Major	2	2q33	CTLA4	204440753	204446928		Jun, T. Y.  et al. 2001	11555351				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean		CDC GDPinfo	1493	Hs.247824			Psychiatry and clinical neurosciences. 2001 Oct;55(5):533-7	Polymorphism of CTLA-4 gene for major depression in the Korean population.		123890	9539	2	2001	Although the present study produced negative results for the association of exon 1 polymorphism of CTLA-4 gene with major depression in the Korean population, further systematic research, including diverse clinical variables, would be necessary.	Control:149 normal individuals from the Catholic Hemopoietic Stem Cell Bank of Korea:Korea;Case:77 patients diagnosed with major depression without neurological illness, hormonal disorder, or comorbid mental illness:Korea										
119793	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Milicic, A.  et al. 2001	11580858	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian	Great Britain	CDC GDPinfo	1493	Hs.247824			Tissue antigens. 2001 Jul;58(1):50-4	Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians.		123890	9540	2	2001	We conclude that , although the importance of the B7-CTLA-4 interaction in the development of RA can not be excluded, the CTLA-4 gene is unlikely to be a predisposing factor to this disease.	Case:421 Caucasians rheumatoid arthritis cases:Britain;Control:452 Caucasians healthy controls										
119788	N	diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2	2	2q33	CTLA4	204440753	204446928		Rau, H.  et al. 2001	11158025	codon 17			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Germany	CDC GDPinfo	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2001 Feb;86(2):653-5	The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus.		123890	9535	2	2001	CTLA4 alanine-17 does not represent a major risk factor for type 2 diabetes. Additional studies on larger groups and different ethnic groups are warranted to clarify the association of the GG genotype with faster ss-cell failure and the lower rate of microvascular complications in AA carriers.	Case:300 Caucasian patients with type 2 diabetes;Control:466 healthy controls										
119790	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ahmed, S.  et al. 2001	11426024				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			Rheumatology (Oxford, England). 2001 Jun;40(6):662-7	Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population.		123890	9537	2	2001	 We conclude that the CTLA-4 gene appears to play a significant role in the development of SLE in the Japanese population.	Case:113 SLE patients;Control:200 recruited normal individals northern Kyushu area of Japan										
119785	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Torres B et al.2004	15248219			3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Spanish		Javier Martin	1493	Hs.247824			Arthritis and rheumatism. 2004 Jul;50(7):2211-5	Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus		123890	1535	1	2004	 The 3'-UTR of the CTLA4 gene is involved in susceptibility to SLE.	Control:293 healthy controls;Case:395 patients with systemic lupus erythematosus										
119786	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Kouki, T.  et al. 2000	11086105	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of immunology (Baltimore, Md :  1950). 2000 Dec;165(11):6606-11	CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease.	rs-231775-inferred	123890	9533	2	2000	We related CTLA-4 polymorphism to mAb augmentation of T cell proliferation in each subgroup (GD, HT, NC). Although PBMC from individuals with the G/G alleles showed 132% augmentation, those with the A/A alleles showed 193% augmentation (p = 0.019). CTLA-4 polymorphism affects the inhibitory function of CTLA-4. The G allele is associated with reduced control of T cell proliferation and thus contributes to the pathogenesis of GD and presumably of other autoimmune diseases.	Control:43 normal controls;Case:45/18 Graves (n=45) and Hashimoto's thyroiditis (n=43) disease patients										
119787	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Yanagawa, T.  et al. 2000	11128657				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			The Journal of rheumatology. 2000 Dec;27(12):2740-2	CTLA-4 gene polymorphism in Japanese patients with rheumatoid arthritis.		123890	9534	2	2000	 The CTLA-4 gene is associated with Japanese patients with RA carrying the susceptible HLA allele.	Control:200:controls;Case:85 Japanese patients with rheumatoid arthritis										
119782		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Fernandez-Blanco L 2004	14730632				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			Y Wang	1493	Hs.247824			Arthritis and rheumatism. 2004 Jan;50(1):328-9	A CTLA-4 polymorphism associated with susceptibility to systemic lupus erythematosus.		123890	1532	1	2004												
119783	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Abe T 2001	11606170				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	Y Wang	1493	Hs.247824			Diabetic medicine. 2001 Sep;18(9):726-31	CTLA4 gene polymorphism contributes to the mode of onset of diabetes with antiglutamic acid decarboxylase antibody in Japanese patients: genetic analysis of diabetic patients with antiglutamic acid decarboxylase antibody.		123890	1533	1	2001	 Our data showed that GAD-Ab+ Japanese patients presenting with Type 2 diabetes have shifted A allele while patients with abrupt onset have shifted G allele of CTLA4 gene polymorphism. Our results suggest that immunological function and polymorphism of the CTLA4 gene may contribute to the pathogenesis and progression of Type 1 diabetes.	Cohort 51 Patients with Type 2 diabetes who were GAD-Ab+ Japan										
119784	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Orozco G et al. 2004	15546339			3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Spanish	Spain	Javier Martin	1493	Hs.247824			Tissue antigens. 2004 Dec;64(6):667-70	Cytotoxic T-lymphocyte antigen-4-CT60 polymorphism in rheumatoid arthritis		123890	1534	1	2004	In conclusion, our results do not support an association between CT60A/G polymorphism and susceptibility to RA in the Spanish population, although the contribution of other positions located within the 3' region of the CTLA-4 gene to RA susceptibility cannot be discarded.	Control:398:controls;Case:433 Spanish rheumatoid arthritis patients										
119779	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928		Barton A 2004	15022315			haplotype	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Arthritis and rheumatism. 2004 Mar;50(3):748-52	Haplotype analysis in simplex families and novel analytic approaches in a case-control cohort reveal no evidence of association of the CTLA-4 gene with rheumatoid arthritis.		123890	1529	1	2004	 No evidence for association of CTLA-4 with RA was detected using family or case-control methods.	Control:173 unrelated controls;Case:759 unrelated patients with rheumatoid arthritis										
119780		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Donner H 2004	8989248				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			Y Wang	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 1997 Jan;82(1):143-6	CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus.		123890	1530	1	2004												
119781		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Aguilar F 2003	14522090				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Spanish	Spain	Y Wang	1493	Hs.247824			Human immunology. 2003 Oct;64(10):936-40	CTLA4 polymorphism in Spanish patients with systemic lupus erythematosus.		123890	1531	1	2003	No differences in the distribution of the genotype frequencies between patients and controls were found in any case. Our results from the Spanish autochthonous population differ from those found in the Korean population regarding the involvement of the polymorphism located at -1722 in the susceptibility to SLE.	Control:194 ethnically matched volunteer bone marrow donors;Case:276 Spanish autochthonous patients										
119776	Y	systemic sclerosis	IMMUNE	IMM	Scleroderma, Systemic	2	2q33	CTLA4	204440753	204446928		Hudson LL 2004	14705224				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	African Americans		KGB	1493	Hs.247824			The Journal of rheumatology. 2004 Jan;31(1):85-7	Ethnic differences in cytotoxic T lymphocyte associated antigen 4 genotype associations with systemic sclerosis.		123890	1526	1	2004	 Our data show that the exon 1 (+49) polymorphism of the CTLA-4 gene is associated with systemic sclerosis in African Americans.	Control matched controls;Case:293 African American and Caucasian patients with systemic sclerosis										
119777		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Fernandez-Blanco L 2004	14730632				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Arthritis and rheumatism. 2004 Jan;50(1):328-9	A CTLA-4 polymorphism associated with susceptibility to systemic lupus erythematosus.		123890	1527	1	2004												
119778	N	bipolar I disorder	PSYCH	PSY	Bipolar Disorder	2	2q33	CTLA4	204440753	204446928		Jun TY 2004	14678452				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean		KGB	1493	Hs.247824			Psychiatry and clinical neurosciences. 2004 Feb;58(1):21-4	No evidence for an association of the CTLA4 gene with bipolar I disorder.		123890	1528	1	2004	In the present study an association was not found of exon 1 (+49) polymorphism of CTLA4 gene with bipolar disorder in the Korean population.	Control:149 age- and sex-matched subjects without current or past history of autoimmune diseases or mental:disorder;Case:90 patients without serious medical illness, neurologic illness, hormonal disorder, or concomitant mental illness were selected from a										
119772		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Lowe RM 2004	11092697				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Sweden	Y Wang	1493	Hs.247824			Autoimmunity. 2000 Oct;32(3):173-80	The length of the CTLA-4 microsatellite (AT)N-repeat affects the risk for type 1 diabetes. Diabetes Incidence in Sweden Study Group		123890	1522	1	2004												
119774	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Lee YH 2001	11678447				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			Y Wang	1493	Hs.247824			Lupus. 2001 ;10(9):601-5	Polymorphisms of the CTLA-4 exon 1 and promoter gene in systemic lupus erythematosus.		123890	1524	1	2001	In conclusion, no correlation was found between CTLA-4 exon 1 (+49) and promoter (-318) polymorphisms and SLE in our study.	Case:80 systemic lupus erythematosus patients;Control:86 healthy control subjects										
119775	Y	autoimmune thyroid disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Furugaki K 2004	14986169				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Journal of human genetics. 2004 ;49(3):166-8	Association of the T-cell regulatory gene CTLA4 with Graves' disease and autoimmune thyroid disease in the Japanese.		123890	1525	1	2004	These results suggested that the CTLA4 gene is involved in the susceptibility for GD and AITD in the Japanese.	Control:266 healthy controls;Case:380 autoimmune thryroid disease patients:Japan										
119768	Y	oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Shin YN 2004	15061706				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Taiwan	KGB	1493	Hs.247824			Journal of oral pathology & medicine. 2004 Apr;33(4):200-3	Association of CTLA-4 gene polymorphism with oral submucous fibrosis in Taiwan.		123890	1518	1	2004	 This is the first report that the CTLA-4 +49 G allele confers an increased risk of OSF in Taiwan.	Control:147 healthy controls;Case:62 patients with oral submucous fibrosis:Taiwan										
119769		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Takeuchi F 2003	12942714				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	Y Wang	1493	Hs.247824			Clinical and experimental rheumatology. 2003 Jul-Aug;21(4):527-8	CTLA-4 dimorphisms in Japanese patients with systemic lupus erythematosus.		123890	1519	1	2003												
119771	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Liu MF 2001	11678454				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese		Y Wang	1493	Hs.247824			Lupus. 2001 ;10(9):647-9	CTLA-4 gene polymorphism in promoter and exon-1 regions in Chinese patients with systemic lupus erythematosus.		123890	1521	1	2001	The preliminary study does not suggest an association of the known polymorphism in exon 1 and promoter of CTLA-4 gene with Chinese SLE. However, SLE is a very heterogeneous syndrome and CTLA-4 gene polymorphism might correlate with some specific clinical features. To exploring this possibility, subgroup analysis in more patients needs to be performed.	Case:81 patients with systemic lupus erythematosus;Control:81 normal controls										
119765	Y	Total IgE	IMMUNE	IMM	Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928		Yang KD 2004	14720259				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Clinical and experimental allergy. 2004 Jan;34(1):32-7	Polymorphism of the immune-braking gene CTLA-4 (+49) involved in gender discrepancy of serum total IgE levels and allergic diseases.		123890	1515	1	2004	In females only, the CTLA-4 (+49), but not the IL-4 promoter (-590), polymorphism was significantly associated with elevation of total IgE levels and allergic rhinitis. Here, we have, for the first time, demonstrated a gender-linked genetic relationship with allergic disease.	Cohort 1,333 participants aged 19-49 years										
119766		Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Teutsch SM 2004	14975605				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Australian	Australia	KGB	1493	Hs.247824			Journal of neuroimmunology. 2004 Mar;148(2-Jan):218-30	Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients.		123890	1516	1	2004	Our results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms.	Cohort multiple sclerosis patients										
119767	N	diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2	2	2q33	CTLA4	204440753	204446928		Rau H 2001	11158025	codon 17 polymorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian	Germany	Y Wang	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2001 Feb;86(2):653-5	The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus.		123890	1517	1	2001	CTLA4 alanine-17 does not represent a major risk factor for type 2 diabetes. Additional studies on larger groups and different ethnic groups are warranted to clarify the association of the GG genotype with faster ss-cell failure and the lower rate of microvascular complications in AA carriers.	Case:300 Caucasian patients with type 2 diabetes;Control:466 healthy controls										
119762	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Vaidya B et al. 2002	11886967				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Rheumatology (Oxford, England). 2002 Feb;41(2):180-3	An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies.		123890	1512	1	2002	 The association between the CTLA4 G allele and early RA is largely explained by individuals with RA who have coexisting autoimmune endocrinopathies.	Case:123 unrelated Caucasian probands with early rheumatoid:arthritis north-east of England;Control:349 locally ethnically matched controls										
119763		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Van der Auwera BJ 2004	9353155				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Belgian		Y Wang	1493	Hs.247824			Clinical and experimental immunology. 1997 Oct;110(1):98-103	CTLA-4 gene polymorphism confers susceptibility to insulin-dependent diabetes mellitus (IDDM) independently from age and from other genetic or immune disease markers. The Belgian Diabetes Registry		123890	1513	1	2004												
119764	Y	Graves' hyperthyroidism	IMMUNE	IMM	Graves Disease|Recurrence	2	2q33	CTLA4	204440753	204446928		Wang PW 2004	14715845				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Taiwan	KGB	1493	Hs.247824	antithyroid withdrawal		The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):169-73	Cytotoxic T lymphocyte-associated molecule-4 polymorphism and relapse of Graves' hyperthyroidism after antithyroid withdrawal.		123890	1514	1	2004	We conclude that  the A/G polymorphism of the cytotoxic T lymphocyte-associated molecule-4 gene affects the progress of GD. The G/G genotype is associated with poor outcome.	Case:148 Chinese Graves' disease patients;Control:171:controls										
119759	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Ongagna JC et al. 2002	11900275				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Alsacian	France	Y Wang	1493	Hs.247824			International journal of experimental diabetes research. 2002 ;3(1):9-Jan	Markers for risk of type 1 diabetes in relatives of Alsacian patients with type 1 diabetes		123890	1509	1	2002	 The CTLA-4 49 Ala allele confers an increased risk of type 1 diabetes, independent of age and HLA-DQ genetic markers.	Case:62 type 1 diabetics;Control:84 nondiabetic control subjects										
119760	N	autoimmune hepatitis types 1 and 2	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bittencourt PL 2003	12873588				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Brazil	KGB	1493	Hs.247824			The American journal of gastroenterology. 2003 Jul;98(7):1616-20	Cytotoxic T lymphocyte antigen-4 gene polymorphisms do not confer susceptibility to autoimmune hepatitis types 1 and 2 in Brazil.		123890	1510	1	2003	 Susceptibility to AIH-1 and AIH-2 in Brazilian patients is not influenced by exon 1 CTLA-4 gene polymorphisms at position 49.	Case:106/26 patients with autoimmune hepatitis type 1 (n=106) and autoimmune hepatitis type 2 (n=26):Brazil;Control:67 healthy control subjects										
119761	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		van Veen T 2003	12864988				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Journal of neuroimmunology. 2003 Jul;140(2-Jan):188-93	CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis.		123890	1511	1	2003	These data suggest that the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease.	Control:181:controls;Case:514 patients with multiple sclerosis										
119756	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Fajardy I et al. 2002	12047362				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		France	Y Wang	1493	Hs.247824			European journal of immunogenetics. 2002 Jun;29(3):251-7	CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect		123890	1506	1	2002	Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. This potential parental effect needs to be confirmed in a larger data set.	Case:134 type 1 diabetic patients;Control:273 control subjects										
119757	Y	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Klitz W et al. 2002	12185534				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Filipinos	Philippines	Y Wang	1493	Hs.247824			Immunogenetics. 2002 Aug;54(5):310-3	Association of CTLA-4 variation with type I diabetes in Filipinos		123890	1507	1	2002	We report the association of CTLA-4 A49G variation (cytotoxic T-lymphocyte associated-4) to TID among Filipinos, consistent with some but not all previous reports in other ethnic groups. The G allele frequency (0.61 versus 0.45, P=0.003) and GG genotype frequency (0.42 versus 0.22, P=0.004) were each increased in patients compared to controls, respectively. Among Filipinos, the CTLA-4 genotypes are associated with disease only in the presence of the predisposing DR3, 4, and 9 haplotypes ( P=0.012). Compared to the AA genotype, the increased risk of diabetes predisposition is greatest in genotype GG bearing the DR susceptible alleles ( DR3, 4, and 9) (odds ratio=4.6, P=0.001), demonstrating that non- HLA loci, acting in concert with HLA, can play potent roles in modifying susceptibility to TID.	Case:90 patients with type 1 diabetes:Philipines;Control:94:controls										
119758	Y	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Mochizuki M et al. 2003	12610047				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	Y Wang	1493	Hs.247824			Diabetes care. 2003 Mar;26(3):843-7	Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disease in Japanese children		123890	1508	1	2003	 We have demonstrated that a distinct association exists between the G allele of CTLA-4 and high values of GAD Ab, residual beta-cell function, and the absence of HLA-DRB1*0405.	Control:controls;Case:97/20 Japnese children with type 1 diabetes (n=97) and Graves disease (n=20)		CTLA-4	G	GAD Ab				Y		autoimmune thyroid disease
119753	N	Hashimoto's thyroiditis in an Italian population.	IMMUNE	IMM	Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928	n	Petrone A et al. 2001	11288988				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian	Italy	KGB	1493	Hs.247824			Thyroid. 2001 Feb;11(2):171-5	Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population.		123890	1503	1	2001	These data suggest that these two polymorphic sites at CTLA-4 do not play a major role in the susceptibility of the disease in an Italian population while female gender, age over 50 years, HLA DRB1*04-DQB1*0301 haplotype increase the risk of developing HT.	Case:126 patients with Hashimoto's thyroiditis Italy-Lazio region;Control:301 control subjects Italy-Lazio region										
119754	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Guja C et al. 2002	12003670				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Romanian	Romania	Y Wang	1493	Hs.247824			Journal of cellular and molecular medicine. 2002 Jan-Mar;6(1):75-81	The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population		123890	1504	1	2002												
119755	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Turpeinen H et al. 2003	12919291				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Finnish	Finland	Y Wang	1493	Hs.247824			European journal of immunogenetics. 2003 Aug;30(4):289-93	A linkage analysis of the CTLA4 gene region in Finnish patients with type 1 diabetes.		123890	1505	1	2003												
119750	N	autoimmune thyroid disease	IMMUNE	IMM	Thyroid Diseases|Hypothyroidism|Autoimmune Diseases|Graves Disease|Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928	n	Heward JM et al. 1998	9861324			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		China|Hong Kong	KGB	1493	Hs.247824			Clinical endocrinology. 1998 Sep;49(3):331-4	No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies.		123890	1500	1	1998	 These data suggest that the C-T change in exon 1 of the promoter region of the CTLA-4 gene does not play a role, nor is in linkage disequilibrium with a disease causing mutation, in the development of autoimmune disease.											
119751	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928	n	Ban Y et al. 2001	11681491				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Autoimmunity. 2001 ;34(1):39-43	No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population.		123890	1501	1	2001	The present study did not support an association between the CTLA-4 microsatellite marker and type 1 diabetes in our Japanese study population.	Case:118 Japanese patients with type 1 diabetes;Control:195 control subjects, not otherwise specified in:abstract										
119752	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q33	CTLA4	204440753	204446928		Jun TY et al. 2002	12007590				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean	Korea	KGB	1493	Hs.247824			Psychiatry research. 2002 May;110(1):19-25	Polymorphism of CTLA-4 gene at position 49 of exon 1 may be associated with schizophrenia in the Korean population.		123890	1502	1	2002	This study suggests a putative role of the CTLA-4 gene polymorphism at position 49 of exon 1 for schizophrenia in the Korean population, although the detailed mechanisms remained to be elucidated.	Case:116 schizophrenic patients:Korea;Control:149 normal healthy Koreans from the Catholic Hemopoietic Stem Cell Information Bank										
119745	N	Asthma. Atopy. specific IgE. total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	n	Heinzmann A 2000	10792419	A49G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	German		KCB	1493	Hs.247824			European journal of immunogenetics. 2000 Apr;27(2):57-61			123890	1495	1	2000	We conclude that  neither gene is likely to exert a major influence on the development of asthma or atopy in our population. However, it might prove useful to test for association of these polymorphisms with asthma in populations recruited through asthmatic but not necessarily atopic individuals.											
119746	Y	autoimmune hypothyroidism	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Nithiyananthan R et al. 2002	11842815				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Great Britain	KGB	1493	Hs.247824			Thyroid. 2002 Jan;12(1):6-Mar	Polymorphism of the CTLA-4 gene is associated with autoimmune hypothyroidism in the United Kingdom.		123890	1496	1	2002	These results suggest that the CTLA-4 gene region on chromosome 2q33 is a susceptibility locus for autoimmune hypothyroidism in the United Kingdom.	Case:158 Caucasian patients with autoimmune hypothyroidism:Britain;Control:384 Caucasian control subjects										
119747	Y	susceptibility to autoimmune disease	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Diabetes Mellitus, Type 1|Graves Disease|Disease Models, Animal|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ueda H et al. 2003	12724780				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Nature. 2003 May;423(6939):506-11	Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease.		123890	1497	1	2003												
119741	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928	2e-05	Marron MP 1997	9259273	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Human molecular genetics. 1997 Aug;6(8):1275-82			123890	1491	1	1997												
119743	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Nakao F et al. 2000	11096256				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		KGB	1493	Hs.247824			Experimental and clinical immunogenetics. 2000 ;17(4):179-84	Lack of association between CD28/CTLA-4 gene polymorphisms and atopic asthma in the Japanese population.		123890	1493	1	2000												
119744	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	0.0026	Lee YJ et al. 2001	11327371	CTLA4 promoter -318 C		promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese in Taiwan		KGB	1493	Hs.247824			Journal of pediatric endocrinology & metabolism. 2001 Apr;14(4):383-8	The promoter region of the CTLA4 gene is associated with type 1 diabetes mellitus.		123890	1494	1	2001	This study demonstrates that nucleotide -318 C-T polymorphism of the CTLA4 gene is associated with type 1 DM. The promoter allele -318 C confers a risk of type 1 DM but allele -318 T confers protection against this disease.	Control:260 healthy siblings of the cases;Case:347 unrelated children with type 1 diabetes mellitus (age at diagnosis 7.2+/-3.8 years)										
119737		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Holopainen P et al. 1999	10372542				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Tissue antigens. 1999 May;53(5):470-5	CD28/CTLA4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study.		123890	1487	1	1999												
119738	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		McCormack RM et al. 2001	11477480				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	UK	Northern Ireland	KGB	1493	Hs.247824			Genes and immunity. 2001 Jun;2(4):233-5	Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population.		123890	1488	1	2001	Our results suggest that the CTLA4 gene may play a minor role in the overall genetic predisposition to type 1 diabetes in this UK population.	Case:144 type 1 diabetic patients northern Ireland:297 nuclear families;Control:307 controls not otherwise specified in abstract										
119739	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	n	Hizawa N 2001	11447385	A49G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KCB	1493	Hs.247824			The Journal of allergy and clinical immunology. 2001 Jul;108(1):74-9			123890	1489	1	2001	 Our findings suggest that promoter polymorphisms of both CTLA4 and FCER1B are genetic factors that influence total serum IgE levels in patients with asthma. This supports the theory that variance in total serum IgE levels in patients with asthma is determined by mutations in multiple genes, each of which has a relatively small effect on the phenotype.											
119734	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928		Rodriguez MR et al. 2002	11916172			3' untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Spain	KGB	1493	Hs.247824			Human immunology. 2002 Jan;63(1):76-81	Association of the CTLA4 3' untranslated region polymorphism with the susceptibility to rheumatoid arthritis.		123890	1484	1	2002	We conclude that  the strongest association between CTLA4 gene polymorphisms and RA susceptibility occurs with the 3' UTR polymorphism.	Case:141 Spanish patients (38 men and 103 women) with rheumatoid arthritis;Control:194 ethnically-matched healthy controls										
119735	Y	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Nistico L et al. 1996	8817351				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Human molecular genetics. 1996 Jul;5(7):1075-80	The CTLA-4 gene region of chromosome 2q33 is linked to and associated with type 1 diabetes. Belgian Diabetes Registry.		123890	1485	1	1996												
119736	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Milicic A et al. 2001	11580858	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	British Caucasians	Great Britain	KGB	1493	Hs.247824			Tissue antigens. 2001 Jul;58(1):50-4	Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians.		123890	1486	1	2001	We conclude that , although the importance of the B7-CTLA-4 interaction in the development of RA can not be excluded, the CTLA-4 gene is unlikely to be a predisposing factor to this disease.	Case:421 Caucasians rheumatoid arthritis cases:Britain;Control:452 Caucasians healthy controls										
119731	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ihara K et al. 2001	11685455				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Immunogenetics. 2001 Aug;53(6):447-54	Association studies of CTLA-4 CD28 and ICOS gene polymorphisms with type 1 diabetes in the Japanese population.		123890	1481	1	2001	Of the three genes encoding co-stimulatory molecules, the CTLA-4 gene appears to confer risks for the development of type 1 diabetes.	Case Japanese type 1 diabetic patients;Control not specified in abstract										
119732	Y	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Awata T et al. 1998	9421386				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Diabetes. 1998 Jan;47(1):128-9	Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population.		123890	1482	1	1998												
119733		CTLA4 CD28 haplotypes	OTHER	OTH	Celiac Disease|Autoimmune Diseases	2	2q33	CTLA4	204440753	204446928		Holopainen PM et al. 2001	11509583				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Journal of immunology (Baltimore, Md :  1950). 2001 Sep;167(5):2457-8	Technical note: linkage disequilibrium and disease-associated CTLA4 gene polymorphisms.		123890	1483	1	2001	We conclude that  the previous reports studying merely a single polymorphism could not distinguish which variation actually caused the functional difference. Hence, either mutagenesis approaches or studies with data on all linked polymorphisms are still needed to determine the genuine functional risk polymorphism in this gene region.											
119727	Y	multiple myeloma	CANCER	CAN	Multiple Myeloma|Paraproteinemias|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Zheng C et al. 2001	11167807				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			British journal of haematology. 2001 Jan;112(1):216-8	Cytotoxic T-lymphocyte antigen-4 microsatellite polymorphism is associated with multiple myeloma.		123890	1477	1	2001	The results showed that frequencies of the genotype 86/86 and of the allele 86 were significantly decreased in MM and MGUS compared with matched healthy controls, indicating that the CTLA-4 microsatellite polymorphism might represent a susceptibility locus for MM and MGUS.	Case patients with multiple myeloma;Control ethnically matched healthy controls										
119728		Addison's disease	IMMUNE	IMM	Addison Disease	2	2q33	CTLA4	204440753	204446928		Vaidya B et al. 2000	10690877				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 2000 Feb;85(2):688-91	Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease.		123890	1478	1	2000												
119729	Y	Coeliac	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		King AL et al. 2002	11826026				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Journal of medical genetics. 2002 Jan;39(1):51-4	CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families.		123890	1479	1	2002												
119724	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Osei-Hyiaman D et al. 2001	11522687				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	Ghana	KGB	1493	Hs.247824			Diabetes. 2001 Sep;50(9):2169-71	Association of a novel point mutation (C159G) of the CTLA4 gene with type 1 diabetes in West Africans but not in Chinese.		123890	1474	1	2001	The Yovel CTLA4 geYe polymorphism at Yucleotide positioY 159 sigYificaYtly associated with type 1 diabetes iY West AfricaYs, but Yot iY ChiYese. OY the other haYd, the CTLA4 geYe polymorphism at Yucleotide positioY 49 sigYificaYtly associated with type 1 diabetes iY ChiYese, but Yot iY West AfricaYs.	Case:182 unrelated type 1 diabetes children Ghana, West Africa;Control:201 control subjects from same area Ghana, West Africa;Case:350 type 1 diabetic children central China;Control:420 healthy control subjects from same geographic area central China										
119725	Y	autoimmune thyroid disease	IMMUNE	IMM	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Takara M et al. 2000	10895849				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Diabetes care. 2000 Jul;23(7):975-8	Association of CTLA-4 gene A/G polymorphism in Japanese type 1 diabetic patients with younger age of onset and autoimmune thyroid disease.		123890	1475	1	2000	 An association was detected between the CTLA-4 gene polymorphism and younger-onset type 1 diabetes with AITD. The G variant was suggested to be genetically linked to AITD-associated type 1 diabetes of younger onset in this apanese population. The defect in these patients presumably lies in a T-cell-mediated autoimmune mechanism.											
119726	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	2	2q33	CTLA4	204440753	204446928		Lee SY et al. 2002	12114354				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Chest. 2002 Jul;122(1):171-6	Association of asthma severity and bronchial hyperresponsiveness with a polymorphism in the cytotoxic T-lymphocyte antigen-4 gene.		123890	1476	1	2002	 The CTLA-4 promoter (-318 C/T) T allele may serve as a clinically useful marker of severe asthma. The CTLA-4 exon 1 (+49 A/G) polymorphism may have a disease-modifying effect in asthmatic airways.	Case:88 asthmatic patients;Control:88 healthy control subjects										
119721	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Hudson LL et al. 2002	12384790			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Human genetics. 2002 Oct;111(5-Apr):452-5	CTLA-4 gene polymorphisms in systemic lupus erythematosus: a highly significant association with a determinant in the promoter region.		123890	1471	1	2002	These results show that allelic variation at the -1722 site influences susceptibility to SLE. This is the first report to our knowledge implicating CTLA-4genotypes at the -1722 locus in susceptibility to any disease.	Case:130 systemic lupus erythematosus patients;Control:200 ethnically matched controls										
119722	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q33	CTLA4	204440753	204446928	n	Rasmussen HB et al. 2001	11239948				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	Europe	KGB	1493	Hs.247824			Journal of the neurological sciences. 2001 Mar;184(2):143-7	CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese.		123890	1472	1	2001	Our results do not support the assumption that CTLA4 influences susceptibility to MS in European Caucasians. On the other hand, they raise the possibility that the development of MS in other ethnic groups involves interaction between CTLA4 and DR2.	Control:125 healthy control subjects from a population of white:Caucasians;Case:84 MS patients from a population of white Caucasians										
119723	N	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928	n	Djilali-Saiah I et al. 1998	9421385				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Diabetes. 1998 Jan;47(1):125-7	No major role for the CTLA-4 gene in the association of autoimmune thyroid disease with IDDM.		123890	1473	1	1998												
119718	N	autoimmune thyroid disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	22	22q13.1	CYP2D6	40852444	40856827	n	Maalej A et al. 2001	11704287				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1493	Hs.333497			Human immunology. 2001 Nov;62(11):1245-50	Lack of linkage and association between autoimmune thyroid diseases and the CTLA-4 gene in a large Tunisian family.		123890	1468	1	2001												
119719	Y	autoimmune thyroid disease	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Akamizu T et al. 2000	11081251				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Thyroid. 2000 Oct;10(10):851-8	Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients.		123890	1469	1	2000	These results confirm and expand on our previous study suggesting that alleles of the TSHR and CTLA-4 genes, or genes near them contribute to AITD susceptibility and set the stage for future studies of interactions between these genes and AITD.	Control:218 Japanese controls;Case:349 unrelated Japanese autoimmune thyroid disease:patients										
119720	Y	Addison's disease	IMMUNE	IMM	Addison Disease|Autoimmune Diseases|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Kemp EH et al. 1998	10197076				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		Estonia|Finland|England|Norway	KGB	1493	Hs.333497			Clinical endocrinology. 1998 Nov;49(5):609-13	A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients.		123890	1470	1	1998	 These results indicate that differences exist in the frequency of the 106 base pair allele in different population groups and in only the English population was the 106 base pair allele associated with Addison's disease.											
119714	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ahmed S et al. 2001	11426024				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	KGB	1493	Hs.247824			Rheumatology (Oxford, England). 2001 Jun;40(6):662-7	Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population.		123890	1464	1	2001	 We conclude that the CTLA-4 gene appears to play a significant role in the development of SLE in the Japanese population.	Case:113 SLE patients;Control:200 recruited normal individals northern Kyushu area of Japan										
119715	N	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827	n	Heward J et al. 1999	10364920				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1493	Hs.333497			Annals of the rheumatic diseases. 1999 Mar;58(3):193-5	The A-G polymorphism in exon 1 of the CTLA-4 gene is not associated with systemic lupus erythematosus.		123890	1465	1	1999	 These data suggest that the A-G polymorphism in exon 1 of the CTLA-4 gene does not play a part in the genetic susceptibility to the development of SLE.											
119717	Y	diabetes mellitus	METABOLIC	MET	Diabetes Mellitus	2	2q33	CTLA4	204440753	204446928		Ma Y et al. 2002	12515273				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	KGB	1493	Hs.247824			Chinese medical journal. 2002 Aug;115(8):1248-50	CTLA-4 gene A/G polymorphism associated with diabetes mellitus in Han Chinese.		123890	1467	1	2002	 CTLA-4 49 AA is protective from diabetes mellitus, whereas, CTLA-4 49 G allele (both as homozygotes and as heterozygotes ) confers an increased risk of diabetes mellitus.	Case:31/31 type 1 (n=31) and type 2 (n=31) diabetics;Control:36:controls										
119710	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Kamoun Abid H et al. 2001	11776689				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Tunisian	Tunisia	KGB	1493	Hs.247824			Pathologie-biologie. 2001 Dec;49(10):794-8	Association between type 1 diabetes and polymorphism of the CTLA-4 gene in a Tunisian population trans Etude de l'association entre diabete type 1 et polymorphisme du gene CTLA-4 dans une population tunisienne.		123890	1460	1	2001	This results indicate that CTLA-4/G allele was significantly associated with predisposition to type 1 diabetes in our group from Tunisian population.	Control:48 healthy subjects;Case:74 type 1 diabetic patients:Tunisia										
119712		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases	22	22q13.1	CYP2D6	40852444	40856827		Huang D et al. 1998	9688341				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1493	Hs.333497	myasthenia gravis with thymoma		Journal of neuroimmunology. 1998 Aug;88(2-Jan):192-8	Genetic association of Ctla-4 to myasthenia gravis with thymoma.		123890	1462	1	1998												
119713	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Ligers A et al. 1999	10408973				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1493	Hs.247824			Journal of neuroimmunology. 1999 Jun;97(2-Jan):182-90	The CTLA-4 gene is associated with multiple sclerosis.		123890	1463	1	1999	Our results suggest that a dysregulation of CTLA-4-driven downregulation of T-cell activation could be involved in the pathogenesis of MS.											
119706	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Matsushita M et al. 1999	10674972	Ala17Thr		coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	Tsuchiya N	1493	Hs.247824			Tissue antigens. 1999 Dec;54(6):578-84			123890	1456	1	1999		Case:71; Control:150										
119707		Wegener's granulomatosis	OTHER	OTH	Wegener Granulomatosis	2	2q33	CTLA4	204440753	204446928		Huang D et al. 2000	10685804				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF414120			KGB	1493	Hs.247824			The Journal of rheumatology. 2000 Feb;27(2):397-40	Polymorphisms in CTLA-4 but not tumor necrosis factor-alpha or interleukin 1beta genes are associated with Wegener's granulomatosis.		123890	1457	1	2000	 This is the first report of a T cell related gene in association with WG. The Ctla-4 itself, or a gene close to Ctla-4, may thus contribute to the pathogenesis of WG by allowing an increased T cell activation by antigen.											
119709	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Hayashi H et al. 1999	10619986				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF414120	Japanese	Japan	KGB	1493	Hs.247824	CTLA4 exon 1 polymorphism (49 A/G) association with anti GAD antibodies.		Clinical endocrinology. 1999 Dec;51(6):793-9	Association of CTLA-4 polymorphism with positive anti-GAD antibody in Japanese subjects with type 1 diabetes mellitus.		123890	1459	1	1999	 There was no evidence that the CTLA-4 exon 1 polymorphism (49 A/G) confers genetic susceptibility to type 1 diabetes mellitus in our case-control study in Japanese subjects. However, the frequency of positive GAD-Ab was higher in the GG subjects. CTLA-4 polymorphism might contribute to the clinical heterogeneity of type 1 diabetes mellitus in Japanese subjects.											
119703	Y	Graves' disease	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Diabetes Mellitus, Type 1|Graves Disease|Disease Models, Animal|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	P = 2.72 x 10-8	Ueda H 2003	12724780	CT60- JO31- JO30 or JO27_1 in the 6.1-kb region 3' of CTLA4	In the mouse model of type 1 diabetes susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain.	3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	white UK born		KGB	1493	Hs.247824			Nature. 2003 May;423(6939):506-11			123890	1453	1	2003		Case:384 Graves' disease cases; Control:652 controls										
119704	Y	diabetes, type 1	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Diabetes Mellitus, Type 1|Graves Disease|Disease Models, Animal|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	P = 5.7 x 10-6	Ueda H 2003	12724780	J030/G	In the mouse model of type 1 diabetes susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain.	3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	white european		KGB	1493	Hs.247824			Nature. 2003 May;423(6939):506-11	Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease		123890	1454	1	2003		Case:3671 type 1 diabetes families										
119705	Y	autoimmune hypothyroidism	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Diabetes Mellitus, Type 1|Graves Disease|Disease Models, Animal|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	P = 0.0005	Ueda H 2003	12724780	CT60 SNP 3' untranslated	In the mouse model of type 1 diabetes susceptibility was also associated with variation in CTLA-4 gene splicing with reduced production of a splice form encoding a molecule lacking the CD80/CD86 ligand-binding domain.	3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	UK		KGB	1493	Hs.247824			Nature. 2003 May;423(6939):506-11			123890	1455	1	2003		Case:AIH 228 cases; Control:844 controls										
119700	Y	Grave`s disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	P = 0.001	Hadj Kacem H 2001	11726229	CTLA-4 (AT)-224-bp allele		3`untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Tunisia	KGB	1493	Hs.247824			Clinical immunology (Orlando, Fla). 2001 Dec;101(3):361-5			123890	1450	1	2001												
119701	N	Graves' ophthalmopathy	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Bednarczuk T 2003	12534352	A49G		coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish and Japanese	Japan|Europe	Tomasz Bednarczuk	1493	Hs.247824			European journal of endocrinology. 2003 Jan;148(1):13-8	Association of cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves' ophthalmopathy in European and Japanese populations		123890	1451	1	2003	 (i) Allele G and G/G genotype confer genetic susceptibility to GD; (ii) CTLA-4 A49G polymorphism is not associated with the development of GO; (iii) different non-genetic factors may contribute to GO in different populations.	Case:264/319 Caucasian patients with Graves' disease (n=264), of which 95 had clinically evident GO (NOSPECS class >/=3) and Japanese patients with Grave's disease (n=319), of which 99 had ophthalmopathy										
119702	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Cinek O 2002	12047357	+49 A/G		coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Czech	Czech Republic	KGB	1493	Hs.247824			European journal of immunogenetics. 2002 Jun;29(3):219-22	The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children.		123890	1452	1	2002	This may be another piece of evidence against the +49 A/G transition as the aetiological polymorphism within the CTLA4 gene.	Control:289:controls;Case:305 diabetic children										
119697		thyroid orbitopathy	OTHER	OTH	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Buzzetti R et al. 1999	10577673				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Lancet. 1999 Nov;354(9192):1824	CTLA-4 and HLA gene susceptibility to thyroid-associated orbitopathy.		123890	1447	1	1999												
119698		thyroid associated orbitopathy	METABOLIC	MET	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Vaidya B et al. 1999	10475192				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Lancet. 1999 Aug;354(9180):743-4	Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy.		123890	1448	1	1999												
119699	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	0.0004	Bouqbis L 2003	12618861	1661G allele		5'promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	South Moroccan	Morocco	KEW	1493	Hs.247824			Genes and immunity. 2003 Mar;4(2):132-7	Association of the CTLA4 promoter region (-1661G allele) with type 1 diabetes in the South Moroccan population.		123890	1449	1	2003	The present work stresses the need to perform exhaustive analysis of the promoter region polymorphisms in order to detect association with the disease.	Case South Moroccan type 1 diabetics;Control:controls										
119693	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	P=0.00470	Hizawa N 2001	11447385	C-318T (-318C)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		KCB	1493	Hs.247824			The Journal of allergy and clinical immunology. 2001 Jul;108(1):74-9			123890	1443	1	2001	 Our findings suggest that promoter polymorphisms of both CTLA4 and FCER1B are genetic factors that influence total serum IgE levels in patients with asthma. This supports the theory that variance in total serum IgE levels in patients with asthma is determined by mutations in multiple genes, each of which has a relatively small effect on the phenotype.											
119694	Y	autoimmune hepatitis	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	P =.004	Agarwal K 2000	10613727	over-representation of the G allele in patients compared to controls			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Hepatology (Baltimore, Md). 2000 Jan;31(1):49-53			123890	1444	1	2000												
119695	Y	coeliac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	p < 0.0001	Djilali-Saiah I 1998	10189842	The A allele of the CTLA-4 position 49			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Gut. 1998 Aug;43(2):187-9			123890	1445	1	1998	 The CTLA-4 gene polymorphism is a non-HLA determinant that predisposes to coeliac disease. Whether it directly contributes to disease susceptibility or represents a marker for a locus in linkage disequilibrium with CTLA-4 needs further investigation.											
119690	N	Asthma. Atopy. specific IgE. total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	n	Heinzmann A 2000	10792419	C-318T			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	German		KCB	1493	Hs.247824			European journal of immunogenetics. 2000 Apr;27(2):57-61			123890	1440	1	2000	We conclude that  neither gene is likely to exert a major influence on the development of asthma or atopy in our population. However, it might prove useful to test for association of these polymorphisms with asthma in populations recruited through asthmatic but not necessarily atopic individuals.											
119691	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Nakao 2000	11096256	C-318T (-318C)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KCB	1493	Hs.247824			Experimental and clinical immunogenetics. 2000 ;17(4):179-84			123890	1441	1	2000												
119684	Y	Grave`s disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	0.01	Yanagawa T 1997	9459626	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Japan	KGB	1493	Hs.247824			Thyroid. 1997 Dec;7(6):843-6			123890	1434	1	1997												
119686	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	n	Hizawa N 2001	11447385	A49G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese		KCB	1493	Hs.247824			The Journal of allergy and clinical immunology. 2001 Jul;108(1):74-9			123890	1436	1	2001	 Our findings suggest that promoter polymorphisms of both CTLA4 and FCER1B are genetic factors that influence total serum IgE levels in patients with asthma. This supports the theory that variance in total serum IgE levels in patients with asthma is determined by mutations in multiple genes, each of which has a relatively small effect on the phenotype.											
119687	Y	H-Thyroiditis	IMMUNE	IMM	Addison Disease|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928	0.03	Donner H 1997	9398726	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 1997 Dec;82(12):4130-2			123890	1437	1	1997												
119680		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Yanagawa T 1999	10052685	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Autoimmunity. 1999 ;29(1):53-6			123890	1430	1	1999												
119681		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Cox NJ 2001	11507694				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			American journal of human genetics. 2001 Oct;69(4):820-30			123890	1431	1	2001												
119682	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	0.006	Harbo HF 1999	10082437	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Norway	KGB	1493	Hs.247824			Tissue antigens. 1999 Jan;53(1):106-10			123890	1432	1	1999												
119683	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q33	CTLA4	204440753	204446928	0.009	Gonzalez MF 1999	10203024	A/G 49. a A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Spain	KGB	1493	Hs.247824			Tissue antigens. 1999 Mar;53(3):296-300			123890	1433	1	1999												
119677		aortic stenosis	CARDIOVASCULAR	CARD	Aortic Valve Stenosis|Calcinosis|Fibrosis	6	6q23.1	CTGF	132311009	132314211		Ortlepp, J. R.  et al. 2004	15039132				Connective tissue growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001901.2			CDC GDPinfo	1490	Hs.591346			European heart journal. 2004 Mar;25(6):514-22	The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis		121009	20850	2	2004	 Calcification of stenotic aortic valves consists of Ca-deficient hexagonal hydroxyapatite. Gender and genetic polymorphisms have an impact on the degree of aortic valve calcification.	Cohort 187 individuals whose stenotic aortic valve was excised 										
119678		homocysteine	METABOLIC	MET	Carotid Stenosis	1	1p31.1	CTH	70649542	70677841		Wang, J.  et al. 2004	15151507				Cystathionase (cystathionine gamma-lyase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001902.4			CDC GDPinfo	1491	Hs.19904			Clinical genetics. 2004 Jun;65(6):483-6	Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.		607657	9532	2	2004	The findings suggest that common variation in CTH may be a determinant of plasma tHcy concentrations.	Cohort 496 Caucasian subjects 										
119679	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	p=0.02	Maurer M 2002	12458055	CTLA4 A/G dimorphism in exon 1 (+49)	several in vitro studies demonstrated that the +49 polymorphism alters CTLA4 function upon activation of T cells	coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	German		kgb	1493	Hs.247824	primary progressive MS		Journal of neuroimmunology. 2002 Oct;131(2-Jan):213-5	CTLA4 exon 1 dimorphism is associated with primary progressive multiple sclerosis.		123890	1429	1	2002	The results suggest that dysregulation of CTLA4-driven down-regulation of T-cell function due a genetic dimorphism in exon 1 may be involved in the pathogenesis of different MS disease subtypes.	Case multiple sclerosis patients;Control:control										
119673	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	3	3q21	CSTA	123526700	123543505		Samuelsson, L.  et al. 2004	15175029				Cystatin A (stefin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005213.3			CDC GDPinfo	1475	Hs.518198			The Journal of investigative dermatology. 2004 Jun;122(6):1399-400	Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5.		184600	15909	2	2004	We did not detect association with either of the genes.	Control:controls;Case psoriasis cases										
119674		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	21	21q22.3	CSTB	44018258	44020687		Mz, H.  et al. 2005	16205844				Cystatin B (stefin B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000100.2		Kuwait	CDC GDPinfo	1476	Hs.695			Journal of biomedical science. 2005 Oct;12(5):815-8	Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.		601145	20849	2	2005												
119676	N	tuberculosis susceptibility	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	NLIIF	218972721	218978908	n	Ma X et al. 2002	11950066				CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF229162		Texas	KGB	58190	Hs.444468			Journal of human genetics. 2002 ;47(3):140-5	Ethnic divergence and linkage disequilibrium of novel SNPs in the human NLI-IF gene: evidence of human origin and lack of association with tuberculosis susceptibility.		605323	6797	1	2002												
119669		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Nacmias, B.  et al. 2005	16188386				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2	Italian		CDC GDPinfo	1471	Hs.304682			Neuroscience letters. 2006 Jan;392(2-Jan):110-3	Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.		604312	20847	2	2005												
119671		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Chiu, C. J.  et al. 2002	12101112				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2		Taiwan	CDC GDPinfo	1471	Hs.304682			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		604312	24161	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid									
119672		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Cacabelos, R.   2002	12452480				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		604312	27394	2	2002	Review article											
119666	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Finckh U  et al. 2000	11074789				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Archives of neurology. 2000 Nov;57(11):1579-83	Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.		604312	20844	2	2000	 CST3 is a susceptibility gene for late-onset AD, especially in patients aged 75 years and older. To our knowledge, CST3 B is the first autosomal recessive risk allele in late-onset AD.	Case:260 AD patients from U Hosp Hamburg-Eppendorf, and 6476 from independent multicenter study:Germany;Control:390 age-matched, cognitively normal control subjects										
119667	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Beyer, K.  et al. 2001	11711204				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Neuroscience letters. 2001 Nov;315(2-Jan):17-20	Alzheimer's disease and the cystatin C gene polymorphism: an association study		604312	20845	2	2001	The CST3-A allele was seen to be an accumulation risk factor for early-onset AD. Furthermore, a synergistic association among the CST3-A allele, APOE4 and AD was found in AD patients whose ages were between 60 and 74 years.	Control:155 controls not otherwise specified in abstract;Case:159 Alzheimer's disease patients										
119668		Alzheimer's disease; dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Lin, C.  et al. 2003	14672279				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			The Chinese journal of physiology. 2003 Sep;46(3):111-5	The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia.		604312	20846	2	2003	These results suggest that CST3 might interact with APOE4 on conferring vascular pathologies.	Control:115 control individuals;Case:127/70 Alzheimer's disease (n=127) and vascular dementia:(n=70) cases										
119663		myocardial infarct; angina; cystatin C	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction	20	20p11.21	CST3	23556533	23566574		Noto, D.  et al. 2005	15882666				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			International journal of cardiology. 2005 May;101(2):213-7	Cystatin C levels are decreased in acute myocardial infarction: effect of cystatin C G73A genepolymorphism on plasma levels.		604312	15907	2	2005	 Cystatin C is decreased in acute myocardial infarction. It is still not clear whether lower cystatin C levels are causally linked to the acute event or just represent a negative acute phase response. The CST3 gene G73A polymorphism functionally affects cystatin C plasma levels.	Control:controls;Case patients with acute myocardial infarction and unstable angina patients										
119664		cognitive impairment; Alzheimers disease	PSYCH	PSY	Alzheimer Disease|Cognition Disorders	20	20p11.21	CST3	23556533	23566574		Babiloni, C.  et al. 2005	16213753				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			NeuroImage. 2006 Feb;29(3):948-64	Genotype (cystatin C) and EEG phenotype in Alzheimer disease and mild cognitive impairment: Amulticentric study.		604312	15908	2	2005												
119665	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Crawford, F. C.  et al. 2000	10993992				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Neurology. 2000 Sep;55(6):763-8	A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease.		604312	20843	2	2000	 The reduced or absent risk for AD conferred by APOE in older populations has been well reported in the literature, prompting the suggestion that additional genetic risk factors confer risk for later-onset AD. In the author's dataset the opposite effects of APOE and CST3 genotype on risk for AD with increasing age suggest that CST3 is one of the risk factors for later-onset AD. Although the functional significance of this coding polymorphism has not yet been reported, several hypotheses can be proposed as to how variation in an amyloidogenic cysteine protease inhibitor may have pathologic consequences for AD.	Control:134 community-based controls;Case:309 clinic- and community-based cases of Alzheimer's:disease										
119660	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Monastero, R.  et al. 2005	16131730				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2		Italy	CDC GDPinfo	1471	Hs.304682			J Alzheimers Dis    2005    7    291-5	No association between the cystatin C gene polymorphism and Alzheimer's disease: acase-control study in an Italian population.		604312	9530	2	2005												
119661		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Zurdel, J.  et al. 2002	11815350				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			The British journal of ophthalmology. 2002 Feb;86(2):214-9	CST3 genotype associated with exudative age related macular degeneration.		604312	15904	2	2002	 Genotyping data, the absence of a significant difference in allele frequencies between patients and controls, and survival analyses suggest an increased susceptibility for ARMD in CST3 B/B homozygotes. Therefore, CST3 B may be a recessive risk allele, significantly contributing to disease risk in up to 6.6% of German ARMD patients. Functional correlates of the allelic CST3 variants A and B remain to be investigated.	Case:167 patients with exudative exudative age related macular degeneration;Control:517 control subjects										
119662		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Loew, M.  et al. 2005	15860739				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Arteriosclerosis, thrombosis, and vascular biology. 2005 Jul;25(7):1470-4	Genotype and plasma concentration of cystatin C in patients with coronary heart disease and risk for secondary cardiovascular events.		604312	15906	2	2005	 The major haplotype -82G/-5G/+4A of the cystatin C gene determines plasma levels of cystatin C with homozygous persons having the highest plasma levels, but there was no association with secondary CVD events in this study.	Cohort 1,013 patients with manifest coronary heart disease, aged 30 to 70 years participating in an in-hospital rehabilitation program 										
119657	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Beyer K et al. 2001	11711204				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			KGB	1471	Hs.304682			Neuroscience letters. 2001 Nov;315(2-Jan):17-20	Alzheimer's disease and the cystatin C gene polymorphism: an association study.		604312	1428	1	2001	The CST3-A allele was seen to be an accumulation risk factor for early-onset AD. Furthermore, a synergistic association among the CST3-A allele, APOE4 and AD was found in AD patients whose ages were between 60 and 74 years.	Control:155 controls not otherwise specified in abstract;Case:159 Alzheimer's disease patients										
119658	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Maruyama, H.  et al. 2001	11468325				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2	Japanese	Japan	CDC GDPinfo	1471	Hs.304682			Neurology. 2001 Jul;57(2):337-9	Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease.		604312	9526	2	2001	The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype.	Case Japanese patients with Alzheimer's disease;Control Japanese normal controls										
119659	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574		Dodel, R. C.  et al. 2002	11865157			promoter	Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Neurology. 2002 Feb;58(4):664	A polymorphism in the cystatin C promoter region is not associated with an increased risk of AD		604312	9528	2	2002	In our data set, we failed to show an overrepresentation of the CSTS-1 genotype in patients with Alzheimer's disease compared with controls. The discrepancies between our data and those previously reported may be for several reasons. Further carefully designed studies are warranted to evaluate whether a risk for AD is associated with carrying one or more polymorphisms of the cystatin C gene.	Control:181 unrelated age-matched control subjects;Case:287 white patients with Alzheimer's disease:Munich, Germany										
119654	N	cystatin SA protein	UNKNOWN	UNK		20	20p11.21	CST2	23752403	23755312		Minaguchi, K.  et al. 2002	12013824				Cystatin SA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ683774	Japanese		CDC GDPinfo	1470	Hs.516939			The Bulletin of Tokyo Dental College. 2002 Feb;43(1):41-4	Sac I Restriction Fragment Length Polymorphism (RFLP) related to the human CST2 gene		123856	9523	2	2002	The gene frequencies in the Japanese population were 0.326 for 3.5 kb allele and 0.674 for 8.3 kb allele (n = 86). The phenotypes of the polymorphism showed no association with the previously reported electrophoretic cystatin SA protein phenotypes.	Cohort 86 sample from the Japanese population Japan 										
119655	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Zurdel J et al. 2002	11815350				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			KGB	1471	Hs.304682			The British journal of ophthalmology. 2002 Feb;86(2):214-9	CST3 genotype associated with exudative age related macular degeneration.		604312	1426	1	2002	 Genotyping data, the absence of a significant difference in allele frequencies between patients and controls, and survival analyses suggest an increased susceptibility for ARMD in CST3 B/B homozygotes. Therefore, CST3 B may be a recessive risk allele, significantly contributing to disease risk in up to 6.6% of German ARMD patients. Functional correlates of the allelic CST3 variants A and B remain to be investigated.	Case:167 patients with exudative exudative age related macular degeneration;Control:517 control subjects										
119656	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p11.21	CST3	23556533	23566574	n	Maruyama H et al. 2001	11468325				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2	Japanese	Japan	KGB	1471	Hs.304682			Neurology. 2001 Jul;57(2):337-9	Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease.		604312	1427	1	2001	The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype.	Case Japanese patients with Alzheimer's disease;Control Japanese normal controls										
119651	Y	D-amphetamine response	NORMALVARIATION	NV		22	22q13.1	CSNK1E	37016642	37124473	0.001	Veenstra-Vanderweele, J.  et al. 2006	16237383			3'untranslated	Casein kinase 1, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152221.2	mixed student population from Chicago IL, USA		CDC GDPinfo	1454	Hs.474833			Neuropsychopharmacology. 2006	Association between the Casein Kinase 1 Epsilon Gene Region and Subjective Response to D-Amphetamine.	rs135745	600863	15903	2	2005	rs135745 was associated with differential sensitivity to acute d-amphetamine administration in helthy, non-drug abusing young adults											
119652	Y	seizures, febrile	NEUROLOGICAL	NEUR		19	19p13.3	CSNK1G2	1892187	1932336		Ma, Y.  et al. 2004	15300631				Casein kinase 1, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001319.5			CDC GDPinfo	1455	Hs.129332			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):347-50	[Five single nucleotide polymorphisms of casein kinase I gamma 2 gene in children with familial febrile convulsions]		602214	9521	2	2004	 These data indicate that SNPs rs740423, rs2277737, rs1059684 of CSNK1G2 gene may contribute to familial febrile convulsions in children.	Control:101:controls;Case:53 Chinese Han children with familial febrile:convulsions Hebei province, China										
119653	Y	seizures, febrile	NEUROLOGICAL	NEUR	Seizures|Fever	19	19p13.3	CSNK1G2	1892187	1932336		Yinan, M.  et al. 2004	15342122				Casein kinase 1, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001319.5	Chinese	China	CDC GDPinfo	1455	Hs.129332			Neuroscience letters. 2004 Sep;368(1):6-Feb	Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population		602214	9522	2	2004	This study suggests that CSNK1G2 gene may be a susceptibility gene for FS in the northern Chinese Han population.	Control:101 normal controls;Case:60 Chinese Han febrile seizure patients										
119647		leukemia, myeloid; myelodysplastic syndrome	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	1	1p35-p34.3	CSF3R	36704230	36721096		Wolfler, A.  et al. 2005	15644419				Colony stimulating factor 3 receptor (granulocyte)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000760.2			CDC GDPinfo	1441	Hs.524517			Blood. 2005 May;105(9):3731-6	A functional single-nucleotide polymorphism of the G-CSF receptor gene predisposes individuals to high-risk myelodysplastic syndrome.		138971	9520	2	2005	These results suggest that lifelong altered G-CSF response by the G-CSF-R_785Lys may render individuals susceptible to development of high-risk MDS.	Case:116 patients with primary myelodysplastic syndromes (MDS), de novo AML (84 patients);Control:232 age- and sex-matched controls										
119648	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Birth Weight	17	17q24.2	CSH1	59303103	59327719		Day, I. N.  et al. 2004	15531513				Chorionic somatomammotropin hormone 1 (placental lactogen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001317.3			CDC GDPinfo	1442	Hs.406754			The Journal of clinical endocrinology and metabolism. 2004 Nov;89(11):5569-76	Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster.		150200	10814	2	2004	Common diversity in GH-CSH correlates with low 1-yr weight and with features of the metabolic syndrome in later life. GH-CSH genotype adds substantially to, but does not account for, the associations between low body weight, at birth and in infancy, and the metabolic syndrome.	Cohort subjects aged 59-72 yr Hertfordshire, UK 	fetal growth infant growth									
119649	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Birth Weight	17	17q24.2	CSH2	59303103	59327719		Day, I. N.  et al. 2004	15531513				Chorionic somatomammotropin hormone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648892			CDC GDPinfo	1443	Hs.558315			The Journal of clinical endocrinology and metabolism. 2004 Nov;89(11):5569-76	Late life metabolic syndrome, early growth, and common polymorphism in the growth hormone and placental lactogen gene cluster.		118820	20842	2	2004	Common diversity in GH-CSH correlates with low 1-yr weight and with features of the metabolic syndrome in later life. GH-CSH genotype adds substantially to, but does not account for, the associations between low body weight, at birth and in infancy, and the metabolic syndrome.	Cohort subjects aged 59-72 yr Hertfordshire, UK 	fetal growth infant growth									
119644	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	CSF2	131437383	131439758		Rafatpanah, H.  et al. 2003	13679820				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2			CDC GDPinfo	1437	Hs.1349			The Journal of allergy and clinical immunology. 2003 Sep;112(3):593-8	Association between novel GM-CSF gene polymorphisms and the frequency and severity of atopic dermatitis.		138960	9519	2	2003	 The GM-CSF genotype is an important genetic marker predicting an individual's predisposition to atopic dermatitis.	Case:113 children with atopic dermatitis;Control:114:controls										
119645		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	17	17q11.2-q12	CSF3	35425213	35427592		Lan, Q.  et al. 2005	16230423				Colony stimulating factor 3 (granulocyte)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000759.2			CDC GDPinfo	1440	Hs.2233			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		138970	14695	2	2005												
119646		severe chronic neutropenia	IMMUNE	IMM	Neutropenia	1	1p35-p34.3	CSF3R	36704230	36721096		Sinha S 2003	14528102	182-bp deletion in the extracellular domain of the G-CSFR			Colony stimulating factor 3 receptor (granulocyte)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000760.2			KGB	1441	Hs.524517			Journal of pediatric hematology/oncology. 2003 Oct;25(10):791-6	Deletional mutation of the external domain of the human granulocyte colony-stimulating factor receptor in a patient with severe chronic neutropenia refractory to granulocyte colony-stimulating factor.		138971	1425	1	2003												
119641		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	CSF2	131437383	131439758		Rohrbach 1999	10400873	T2600C			Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2			KCB	1437	Hs.1349			The Journal of allergy and clinical immunology. 1999 Jul;104(1):247-8			138960	1423	1	1999												
119642	Y	atopic dermatitis.	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	CSF2	131437383	131439758		Rafatpanah H 2003	13679820				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2			KGB	1437	Hs.1349			The Journal of allergy and clinical immunology. 2003 Sep;112(3):593-8	Association between novel GM-CSF gene polymorphisms and the frequency and severity of atopic dermatitis.		138960	1424	1	2003	 The GM-CSF genotype is an important genetic marker predicting an individual's predisposition to atopic dermatitis.	Case:113 children with atopic dermatitis;Control:114:controls										
119643	Y	asthma; atopy; dermatitis and eczema	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	CSF2	131437383	131439758		He, J. Q.  et al. 2003	12629028				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2			CDC GDPinfo	1437	Hs.1349			Chest. 2003 Mar;123(3 Suppl):438S	Polymorphisms of the GM-CSF genes and the development of atopic diseases in at-risk children.		138960	9518	2	2003	Our data suggest that GM-CSF 545A, 3606T, and 3928C alleles are risk factors for the development of atopy and atopic diseases	Cohort 370 children at high risk for atopy and atopic diseases 										
119638	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q21.1	KCNIP3	95326798	95415552	n	Buxbaum JD et al. 2000	11072133				Kv channel interacting protein 3, calsenilin				KGB	30818	Hs.437376			Neuroscience letters. 2000 Nov;294(3):135-8	Genomic structure expression pattern and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease.			6753	1	2000												
119639	Y	Crohn's disease	IMMUNE	IMM		5	5q33-q35	CSF1R	149413050	149473128		Zapata Velandia, A. M.  et al. 2004	15144560			intron	Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005211.2			CDC GDPinfo	1436	Hs.483829			Journal of immune based therapies and vaccines. 2004 May;2(1):6	Association of the T allele of an intronic single nucleotide polymorphism in the colony stimulating factor 1 receptor with Crohn's disease: acase-control study.		164770	9517	2	2004	 We conclude that the colony stimulating factor receptor 1 gene may be a susceptibility gene for Crohn's disease.	Control:108 ethnically similar controls;Case:111 unrelated patients with Crohn's disease										
119640		Parkinson's disease	NEUROLOGICAL	NEUR		5	5q33-q35	CSF1R	149413050	149473128			11852791				Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005211.2			CDC GDPinfo	1436	Hs.483829			Genetika. 2002 Jan;38(1):33-40	[Detection of two polymorphic sites in the human c-fms gene: allele frequency and genotype in somepopulations of Russia]		164770	15901	2		The wide distribution of the mutant allele in human populations of the two races was considered indicative of an adaptive role of the polymorphism in providing a certain level of the gene product, a receptor, in certain cell processes.	Cohort individuals from several populations, including Artic Mongoloids, Central Asian Mongoloids, and Caucasoid Russians and Germans 										
119634	Y	zonular pulverulent cataract	VISION	VIS	Cataract	2	2q33-q35	CRYGC	208701107	208702872		Ren Z et al. 2000	10914683				Crystallin, gamma C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020989.2			KGB	1420	Hs.72910			Human genetics. 2000 May;106(5):531-7	A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.		123680	1420	1	2000												
119635		familial cataract	VISION	VIS	Eye Diseases, Hereditary|Cataract|Genetic Predisposition to Disease|	2	2q33-q35	CRYGD	208694576	208697458		Burdon KP 2004	14693780				Crystallin, gamma D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006891.2			KGB	1421	Hs.546247			The British journal of ophthalmology. 2004 Jan;88(1):79-83	Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.		123690	1421	1	2004	 Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population.											
119637		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p31-p22	CRYZ	74943771	74971315		Shao, M.  et al. 2001	11295131				Crystallin, zeta (quinone reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001889.2			CDC GDPinfo	1429	Hs.83114			Zhonghua yi xue yi chuan xue za zhi. 2001 Apr;18(2):122-4	[Polymorphism of MAO-B gene and NAD(P)H: quinoneoxidoreductase gene in Parkinson's disease]		123691	12300	2	2001	 The cDNA 609T allele of NQO1 gene might be a risk factor of PD, which could be associated with the genetic susceptibility of PD. The high activity A or AA genotype of MAO-B and the low activity genotype of NQO1 gene might have synergistic effect. When both genotypes coexist, the risk of suffering PD will be increased greatly.	Case:126 Parkinson's disease patients;Control:136 healthy control subjects matched for age, sex and:origin										
119631	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11q22.3-q23.1	CRYAB	111284559	111287683		Van Veen, T.  et al. 2003	14610128				Crystallin, alpha B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001885.1		Netherlands	CDC GDPinfo	1410	Hs.408767			Neurology. 2003 Nov;61(9):1245-9	[Alpha]B-crystallin genotype has impact on the multiple sclerosis phenotype.		123590	15900	2	2003	 Carriers of the rare allele CRYAB-650*C had an increased likelihood of a noninflammatory, neurodegenerative phenotype characterized by a relatively rapid, primary progressive clinical disease course.	Cohort sporadic cases of multiple sclerosis 										
119632		congenital nuclear cataract	VISION	VIS	Cataract	17	17q11.2-q12	CRYBA1	24598000	24605628		Qi Y 2004	14598164				Crystallin, beta A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005208.3		China	KGB	1411	Hs.46275			Human genetics. 2004 Jan;114(2):192-7	A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.		123610	1418	1	2004												
119633		familial cataract	VISION	VIS	Eye Diseases, Hereditary|Cataract|Genetic Predisposition to Disease|	17	17q11.2-q12	CRYBA1	24598000	24605628		Burdon KP 2004	14693780				Crystallin, beta A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005208.3			KGB	1411	Hs.46275			The British journal of ophthalmology. 2004 Jan;88(1):79-83	Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.		123610	1419	1	2004	 Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population.											
119627		C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Araujo, F.  et al. 2004	15469865				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Clinica chimica acta; international journal of clinical chemistry. 2004 Nov;349(2-Jan):129-34	The influence of tumor necrosis factor -308 and C-reactive protein G1059C gene variants on serum concentration of C-reactive protein: evidence foran age-dependent association.		123260	15897	2	2004	 These findings suggest an association between a functional genetic variant of the TNF-alpha gene and hs-CRP levels at particular age groups.	Cohort 684 asymptomatic Brazilian individuals, 295 men (43.1%) and 389 women Brazil 										
119628	Y	myocardial infarct; stroke; angina; peripheral vascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Lupus Erythematosus, Systemic	1	1q21-q23	CRP	157948702	157951003		Szalai, A. J.  et al. 2005	15797975				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Caucasian	United States	CDC GDPinfo	1401	Hs.76452			Rheumatology (Oxford, England). 2005 Jul;44(7):864-8	Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association betweenC-reactive protein (CRP) gene polymorphisms and vascular events.		123260	15898	2	2005	 The CRP GT20 variant is more likely to occur in African-American and Hispanic SLE patients than in Caucasian ones, and SLE patients carrying the GT20 allele are more likely to develop vascular arterial events.	Case:25 SLE patients who developed vascular arterial events (i.e. myocardial infarction, angina, coronary artery bypass graft surgery, stroke, claudication, gangrene or significant tissue loss and/or arterial peripheral thrombosis) from the LUMINA cohort:US;Control:32 ethnically matched patients with no previous vascular arterial events										
119629		myocardial infarct; C-reactive protein; stroke, ischemic	CARDIOVASCULAR	CARD	Atherosclerosis	1	1q21-q23	CRP	157948702	157951003		Miller, D. T.  et al. 2005	16266402				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Annals of human genetics. 2005 Nov;69(Pt 6):623-38	Association of common CRP gene variants with CRP levels and cardiovascular events.		123260	15899	2	2005												
119623		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease|Inflammation|Postoperative Complications	1	1q21-q23	CRP	157948702	157951003		Grocott, H. P.  et al. 2005	16051899				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1854-8	Genetic polymorphisms and the risk of stroke after cardiac surgery.		123260	9514	2	2005	 We demonstrate that common genetic variants of CRP (3'UTR 1846C/T) and IL-6 (-174G/C) are significantly associated with the risk of stroke after cardiac surgery, suggesting a pivotal role of inflammation in post-cardiac surgery stroke.											
119624	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	1	1q21-q23	CRP	157948702	157951003			16344720				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Pharmacogenetics and genomics. 2006 Jan;16(1):37-42	No association between C-reactive protein gene polymorphisms and decrease of C-reactive protein serum concentration after infliximab treatment in Crohn's disease		123260	9515	2	2006			infliximab									
119626	Y	C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Obisesan, T. O.  et al. 2004	15271790				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Arteriosclerosis, thrombosis, and vascular biology. 2004 Oct;24(10):1874-9	C-reactive protein genotypes affect baseline, but not exercise training-induced changes, in C-reactive protein levels		123260	15895	2	2004	 CRP +219G/A and -732A/G genotypes and haplotypes and exercise training appear to modulate CRP levels. However, training-induced CRP reductions appear to be independent of genotype at these loci.	Cohort 63 sedentary men and women aged 50 to 75 years old 	physical activity									
119619	Y	C-reactive protein	IMMUNE	IMM	Periodontitis|Inflammation	1	1q21-q23	CRP	157948702	157951003		D'Aiuto, F.  et al. 2005	15777561	(+1444C>T)			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2005 Apr;179(2):413-7	C-reactive protein (+1444C>T) polymorphism influences CRP response following a moderate inflammatory stimulus.		123260	9510	2	2005	CRP genotype may need to be considered when CRP values are used in coronary risk prediction.	Cohort 55 consecutive patients suffering from periodontitis 										
119621	Y	C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Carlson, C. S.  et al. 2005	15897982			promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	African American		CDC GDPinfo	1401	Hs.76452			American journal of human genetics. 2005 Jul;77(1):64-77	Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels.	rs3093062, rs3091244	123260	9512	2	2005	Of the common single-nucleotide polymorphisms (SNPs) identified, several in the CRP promoter region are strongly associated with CRP levels in a large cohort study of cardiovascular risk in European American and African American young adults. We also demonstrate the functional importance of these SNPs in vitro.	Cohort European American and African American young adults 										
119622		C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Eklund, C.  et al. 2005	16026589	SNP 1059			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			International journal of immunogenetics. 2005 Aug;32(4):229-32	Epistatic effect of C-reactive protein (CRP) single nucleotide polymorphism (SNP) +1059 and interleukin-1B SNP +3954 on CRP concentration in healthy male blood donors.		123260	9513	2	2005												
119616	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q21-q23	CRP	157948702	157951003		Chen, J.  et al. 2004	15517131	-717A>G			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Chinese	China	CDC GDPinfo	1401	Hs.76452			Journal of molecular medicine (Berlin, Germany). 2005 Jan;83(1):72-8	-717A>G polymorphism of human C-reactive protein gene associated with coronary heart disease in ethnic Han Chinese: the Beijing atherosclerosisstudy.		123260	9507	2	2004	The association of this polymorphism with CHD supports the belief that carriers of -717A allele of the CRP gene are genetically predisposed to CHD in the Chinese Han population, and it remains possible that this polymorphism is in disequilibrium with one as yet unidentified functional polymorphism in the vicinity.	Control:615 age-matched male normal controls;Case:619 male Chinese Han coronary heart disease patients										
119617		cardiovascular disease; C-reactive protein	CARDIOVASCULAR	CARD		1	1q21-q23	CRP	157948702	157951003		Suk, H. J.  et al. 2005	15585211				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2005 Jan;178(1):139-45	Relation of polymorphism within the C-reactive protein gene and plasma CRP levels.		123260	9508	2	2005	The present data provide evidence of a genetic component of CRP levels, independently of traditional risk factors for cardiovascular disease. Whether genetic markers can add to information yielded by high sensitivity CRP (hsCRP) in assessing cardiovascular risk needs further evaluation.	Cohort 2,397 participants of a community-based study; 1334 with no prior cardiovascular history and 1063 with a prior cardiovascular history 										
119618	Y	myocardial infarct; atherosclerosis, coronary; C-reactive protein	CARDIOVASCULAR	CARD	Coronary Disease	1	1q21-q23	CRP	157948702	157951003		Kovacs, A.  et al. 2005	15585218			promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2005 Jan;178(1):193-8	A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein.		123260	9509	2	2005	The prognostic role and therapeutic implications in CHD and the functionality of this polymorphism remain to be determined.	Case middle-aged post-infarction patients;Control population based controls										
119613	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Acute Disease	1	1q21-q23	CRP	157948702	157951003		Flex, A.  et al. 2004	15286457				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):261-4	Polymorphisms of the macrophage inhibitory factor and C-reactive protein genes in subjects with Alzheimer's dementia.		123260	9504	2	2004	Although these data need further confirmation, they indicate that CRP and MIF gene polymorphisms are not associated with AD.	Case:116 Italian subjects affected by probable Alzheimer's:disease;Control:184 age- and sex-matched controls										
119614	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	1	1q21-q23	CRP	157948702	157951003		Zee, R. Y.  et al. 2004	15304023				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Journal of thrombosis and haemostasis. 2004 Aug;2(8):1240-3	C-reactive protein gene polymorphisms and the risk of venous thromboembolism: a haplotype-basedanalysis.		123260	9505	2	2004	In conclusion, we found no evidence for an association between the CRP polymorphisms/haplotypes tested and the risk of venous thromboembolism.	Control:130 matched controls;Case:130 venous thromboembolism cases from the Physicians Health Study										
119615	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis	1	1q21-q23	CRP	157948702	157951003		Zee, R. Y.  et al. 2004	15380464				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2004 Oct;176(2):393-6	C-reactive protein gene polymorphisms and the incidence of post-angioplasty restenosis.		123260	9506	2	2004	In conclusion, we found no evidence for an association between the polymorphisms/haplotypes thereof tested and restenosis after angioplasty.	Case:342 post-angioplasty patients who developed restenosis;Control:437 post-angioplasty patients who did not develop:retensosis										
119608	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Vickers MA 2002	11922913			5'promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			TJB	1401	Hs.76452			Cardiovascular research. 2002 Mar;53(4):1029-34			123260	1416	1	2002	 Baseline plasma CRP is a significantly heritable cardiovascular risk factor. Levels are associated with genotype at the -174G/C polymorphism of the IL-6 gene.											
119609	Y	C-reactive protein	CARDIOVASCULAR	CARD	Lupus Erythematosus, Systemic	1	1q21-q23	CRP	157948702	157951003		Szalai, A. J.  et al. 2002	11857055			intron	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	African American		CDC GDPinfo	1401	Hs.76452			Genes and immunity. 2002 Feb;3(1):14-9	Association between baseline levels of C-reactive protein (CRP) and a dinucleotide repeat polymorphism in the intron of the CRP gene.		123260	9500	2	2002	The frequency of GT(16) and GT(21) was two-fold higher in Caucasians than in African-Americans, but there was no difference in allele distribution between patients and controls.	Case individuals with systemic lupus erythematus;Control controls not specified in abstract										
119610		thrombosis, arterial	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction	1	1q21-q23	CRP	157948702	157951003		Zee, R. Y.  et al. 2002	11947917				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2002 May;162(1):217-9	Polymorphism in the human C-reactive protein (CRP) gene, plasma concentrations of CRP, and the risk of future arterial thrombosis		123260	9501	2	2002	These data suggest that genetic and environmental determinants each importantly contribute to the vascular risk associated with inflammation.	Cohort apparently healthy men 										
119604	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21-q23	CRP	157948702	157951003	0.014	Wolford JK 2003	12618085			5'promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Pima Indians		KEW	1401	Hs.76452			Molecular genetics and metabolism. 2003 Feb;78(2):136-44	A C-reactive protein promoter polymorphism is associated with type 2 diabetes mellitus in Pima Indians.		123260	1412	1	2003	Linkage analyses that adjusted for the effect of these polymorphisms indicated that they do not in themselves account for the observed linkage with T2DM on chromosome 1q. However, these findings suggest that variation within the CRP locus may play a role in diabetes susceptibility in Pima Indians.	Cohort 1300 Pima Indians										
119605	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	1	1q21-q23	CRP	157948702	157951003		Margaglione M et al. 2000	10634818				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			KGB	1401	Hs.76452			Arteriosclerosis, thrombosis, and vascular biology. 2000 Jan;20(1):198-203	C-reactive protein in offspring is associated with the occurrence of myocardial infarction in first-degree relatives.		123260	1413	1	2000												
119607		Cardiac Disease	CARDIOVASCULAR	CARD	Lupus Erythematosus, Systemic	1	1q21-q23	CRP	157948702	157951003		Szalai AJ 2002	11857055	Polymorphic GT repeat in the intron			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	African Americans and Caucasians		TJB	1401	Hs.76452			Genes and immunity. 2002 Feb;3(1):14-9	Association between baseline levels of C-reactive protein (CRP) and a dinucleotide repeat polymorphism in the intron of the CRP gene.		123260	1415	1	2002	The frequency of GT(16) and GT(21) was two-fold higher in Caucasians than in African-Americans, but there was no difference in allele distribution between patients and controls.	Case individuals with systemic lupus erythematus;Control controls not specified in abstract										
119601		asthma	IMMUNE	IMM	Asthma	17	17q12-q22	CRHR1	41217448	41268973		Weiss, S. T.  et al. 2004	16113459				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDPinfo	1394	Hs.417628			Proceedings of the American Thoracic Society. 2004 ;1(4):364-7	Asthma steroid pharmacogenetics: a study strategyto identify replicated treatment responses.		122561	15892	2	2004			steroids									
119602	N	obesity	METABOLIC	MET	Obesity	17	17q12-q22	CRHR1	41217448	41268973		Challis, B. G.  et al. 2004	14724656				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDPinfo	1394	Hs.417628			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):442-6	Genetic variation in the corticotrophin-releasing factor receptors: identification ofsingle-nucleotide polymorphisms and association studies with obesity in UK Caucasians		122561	15894	2	2004	 Mutations in the coding sequence of the CRF-R1 and CRF-R2 genes are unlikely to be a common monogenic cause of early-onset obesity. In an adult UK Caucasian population, the CRF-R1 C861T polymorphism is associated with increased BMI.	Cohort Caucasians from a population-based cohort UK 										
119603	Y	progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Neurodegenerative Diseases|Genetic Predisposition to Disease	17	17q12-q22	CRHR1	41217448	41268973		Pastor, P.  et al. 2004	15293277				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2		Spain	CDC GDPinfo	1394	Hs.417628			Annals of neurology. 2004 Aug;56(2):249-58	Novel haplotypes in 17q21 are associated with progressive palsy		122561	17792	2	2004	A specific subhaplotype (H1E'(A)) was present in patients but was not observed in the controls. Furthermore, the haplotype, was rarely present in the disease group suggesting plays a protective role. The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the pathogenic allele exists in a subgroup of PSP patients.	Case progressive supranuclear palsy cases from 2 case-control samples;Control controls from 2 case-control samples										
119598	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q12-q22	CRHR1	41217448	41268973		Dahl, J. P.  et al. 2005	15992556				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDPinfo	1394	Hs.417628			Journal of psychiatric research. 2005 Sep;39(5):475-9	Lack of association between single nucleotide polymorphisms in the corticotropin releasing hormone receptor 1 (CRHR1) gene and alcohol dependence.		122561	9499	2	2005												
119599	Y	asthma	IMMUNE	IMM	Asthma	17	17q12-q22	CRHR1	41217448	41268973		Tantisira, K. G.  et al. 2004	15128701				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDPinfo	1394	Hs.417628			Human molecular genetics. 2004 Jul;13(13):1353-9	Corticosteroid pharmacogenetics: association ofsequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids.		122561	15890	2	2004	These data indicate that genetic variants in CRHR1 have pharmacogenetic effects influencing asthmatic response to corticosteroids, provide a rationale for predicting therapeutic response in asthma and other corticosteroid-treated diseases, and suggests this gene pathway as a potential novel therapeutic target.	Cohort three populations not otherwise specified in abstract 	corticosteroids									
119600	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q12-q22	CRHR1	41217448	41268973		Licinio, J.  et al. 2004	15365580				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2	Mexican		CDC GDPinfo	1394	Hs.417628			Molecular psychiatry. 2004 Dec;9(12):1075-82	Association of a corticotropin-releasing hormone receptor 1 haplotype and antidepressant treatment response in Mexican-Americans.		122561	15891	2	2004	These findings also suggest that variations in the CRHR1 gene may affect response to CRHR1 agonists or antagonists.	Cohort 80 depressed Mexican-Americans in Los Angeles who completed a prospective randomized, placebo lead-in, double-blind treatment of fluoxetine or desipramine, with active treatment for 8 weeks Los Angeles, California 	desipramine fluoxetine									
119595	Y	depression	PSYCH	PSY	Mood Disorders|Depressive Disorder, Major	8	8q13	CRH	67251172	67253252		Claes, S.  et al. 2003	14573312				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1			CDC GDPinfo	1392	Hs.75294			Biological psychiatry. 2003 Nov;54(9):867-72	The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden.		122560	15889	2	2003	 The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.	Control matched controls;Case:89 patients with recurrent major depressions										
119596	Y	major depression	PSYCH	PSY	Mood Disorders|Depressive Disorder, Major	5	5q11.2-q13.3	CRHBP	76284435	76301055		Claes S 2003	14573312				Corticotropin releasing hormone binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001882.3	swedish		KGB	1393	Hs.115617			Biological psychiatry. 2003 Nov;54(9):867-72	The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden.		122559	1411	1	2003	 The corticotropin releasing hormone binding protein gene is likely to be involved in the genetic vulnerability for major depression.											
119597	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Personality Disorders	17	17q12-q22	CRHR1	41217448	41268973		Soyka, M.  et al. 2004	15203442				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDPinfo	1394	Hs.417628			Addiction biology. 2004 Mar;9(1):73-9	No association of CRH1 receptor polymorphism haplotypes, harm avoidance and other personality dimensions in alcohol dependence: results from theMunich gene bank project for alcoholism.		122561	9498	2	2004	Based on the examination of 170 alcoholic subjects no association was found between CRH1 receptor haplotypes of four single nuclotid polymorphisms (SNPs) and low and high temperament traits of harm avoidance, novelty seeking and reward dependence. The possible implications of these findings are discussed.	Cohort 170 alcoholic subjects 										
119592	N	polymyalgia rheumatica	OTHER	OTH	Polymyalgia Rheumatica|Giant Cell Arteritis|Giant Cell Arteritis	8	8q13	CRH	67251172	67253252		Gonzalez-Gay, M. A.  et al. 2002	12051390			promoter	Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1			CDC GDPinfo	1392	Hs.75294			Clinical and experimental rheumatology. 2002 Mar-Apr;20(2):133-8	Corticotropin releasing hormone promoter polymorphisms in giant cell arteritis and polymyalgia rheumatica.		122560	9496	2	2002	 Polymorphisms in the CRH gene regulatory region do not appear to be associated with increased susceptibility to PMR or GCA. The CRH-A2 allele may encode risk for the development of visual complications in GCA, although further studies to confirm this will be required.	Control:147 ethnically matched controls;Case:86 patients with isolated polymyalgia rheumatica Lugo region, northwest Spain										
119593		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	8	8q13	CRH	67251172	67253252		Gonzalez-Gay, M. A.  et al. 2003	12734882			promoter	Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1	Spanish	Spain	CDC GDPinfo	1392	Hs.75294			The Journal of rheumatology. 2003 May;30(5):913-7	Corticotropin-releasing hormone promoter polymorphisms in patients with rheumatoid arthritis from northwest Spain.		122560	9497	2	2003	 In Northwest Spain, polymorphism in the CRH gene regulatory region may play a role as a disease susceptibility marker for late onset seronegative RA.	Control:147 ethnically matched controls;Case:177 patients with rheumatoid arthritis Lugo region of Northwest Spain										
119594		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	8	8q13	CRH	67251172	67253252		Donn, R. P.  et al. 2002	12154211				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1		Great Britain	CDC GDPinfo	1392	Hs.75294			Rheumatology (Oxford, England). 2002 Aug;41(8):930-6	Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.		122560	13328	2	2002	 The lack of association with polymorphisms of these neuroendocrine genes suggests that they are not involved in susceptibility to JIA.	Control:276 unrelated, healthy UK Caucasian controls;Case:463 clinically characterized UK Caucasian JIA patients										
119588	N	panic disorder	PSYCH	PSY	Agoraphobia|Panic Disorder	10	10p11.21	CREM	35455806	35541892		Domschke, K.  et al. 2003	12555239				CAMP responsive element modulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181571.1			CDC GDPinfo	1390	Hs.200250			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):70-8	Human nuclear transcription factor gene CREM:genomic organization, mutation screening, and association analysis in panic disorder.		123812	15888	2	2003	This suggests that the CREM P 2 promoter trinucleotide polymorphism is not a major susceptibility factor in the pathogenesis of panic disorder. Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary.	Cohort 88/76/62 German (n=88), Italian (n=76) and Spanish (n=62) patients with panic disorder 										
119589		bipolar disorder	PSYCH	PSY	Bipolar Disorder	8	8q13	CRH	67251172	67253252		Alda M et al. 2000	10893493				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1			KGB	1392	Hs.75294			American journal of medical genetics. 2000 Apr;96(2):178-81	Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLI study.		122560	1409	1	2000												
119590		obesity	METABOLIC	MET	Obesity	8	8q13	CRH	67251172	67253252		Challis BG 2004	14724656				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1	caucasian		KGB	1392	Hs.75294			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):442-6	Genetic variation in the corticotrophin-releasing factor receptors: identification of single-nucleotide polymorphisms and association studies with obesity in UK Caucasians.		122560	1410	1	2004	 Mutations in the coding sequence of the CRF-R1 and CRF-R2 genes are unlikely to be a common monogenic cause of early-onset obesity. In an adult UK Caucasian population, the CRF-R1 C861T polymorphism is associated with increased BMI.											
119585		neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele|Genetic Predisposition to Disease	1	1q21.3	CRABP2	154936029	154941999		Deak, K. L.  et al. 2005	16237707				Cellular retinoic acid binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001878.2			CDC GDPinfo	1382	Hs.405662			Birth defects research Part A, Clinical and molecular teratology. 2005 Nov;73(11):868-75	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.		180231	24160	2	2005	 These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.											
119586	Y	Leber congenital amaurosis	OTHER	OTH	Optic Atrophies, Hereditary|Blindness	1	1q31-q32.1	CRB1	195504030	195714208		Lotery, A. J.  et al. 2001	11231775				Crumbs homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201253.1			CDC GDPinfo	23418	Hs.126135			Archives of ophthalmology. 2001 Mar;119(3):415-20	Mutations in the CRB1 gene cause Leber congenital amaurosis.		604210	15885	2	2001	 In our cohort of patients with LCA, coding sequence variations were observed in the CRB1 gene more frequently than in any of the other 5 known LCA-associated genes. Likely disease-causing sequence variations have now been identified in 64 (28%) of 233 subjects in this cohort. CLINICAL RELEVANCE: Molecular diagnosis can confirm and clarify the diagnosis in an increasing fraction of patients with LCA. As genotype data accumulate, clinical phenotypes associated with specific mutations may be established. This will facilitate the counseling of patients regarding their visual prognosis and the likelihood of associated systemic anomalies.	Control:140:controls;Case:190 unrelated individuals with Leber congenital:amaurosis										
119587		Rubinstein-Taybi syndrome	OTHER	OTH	Rubinstein-Taybi Syndrome	16	16p13.3	CREBBP	3715056	3870122			16359492				CREB binding protein (Rubinstein-Taybi syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004380.1			CDC GDPinfo	1387	Hs.459759			Congenital anomalies. 2005 Dec;45(4):125-31	Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography		600140	15887	2	2005												
119582		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Fitness, J.  et al. 2004	15381817				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	Malawian	Malawi	CDC GDPinfo	1378	Hs.334019			The American journal of tropical medicine and hygiene. 2004 Sep;71(3):341-9	Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.		120620	19458	2	2004	Genetic susceptibility to TB in Africans appears polygenic. The relevant genes and variants may vary significantly between populations, and may be affected by HIV infection status.	Case:514 tuberculosis cases Karonga district, northern Malawi;Control:913:controls	HIV									
119583		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	1	1q32	CR2	205694292	205729863		Hirunsatit, R.  et al. 2003	12546713				Complement component (3d/Epstein Barr virus) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006658.1			CDC GDPinfo	1380	Hs.445757			BMC genetics [electronic resource]. 2003 Jan;4:3	Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.		120650	13120	2	2003	 We present genetic evidence leading to hypothesize a possibility of PIGR to function as the EBV nasopharyngeal epithelium receptor via IgA-EBV complex transcytosis failure. The PIGR1739C-->T is a missense mutation changing alanine to valine near endoproteolytic cleavage site. This variant could alter the efficiency of PIGR to release IgA-EBV complex and consequently increase the susceptibility of populations in endemic areas to develop NPC.	Case:175 nasopharyngeal cancer cases;Control:317 controls, divided into Thai, Chinese and Thai-Chinese based on their respective ethnic:origins										
119584		neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele|Genetic Predisposition to Disease	15	15q24	CRABP1	76419757	76427622		Deak, K. L.  et al. 2005	16237707				Cellular retinoic acid binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004378.1			CDC GDPinfo	1381	Hs.346950			Birth defects research Part A, Clinical and molecular teratology. 2005 Nov;73(11):868-75	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.		180230	20839	2	2005	 These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.											
119579		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Hodgson, U.  et al. 2005	15733500	C5507G			Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	Finnish	Finland	CDC GDPinfo	1378	Hs.334019			Respiratory medicine. 2005 Mar;99(3):265-7	The polymorphism C5507G of complement receptor 1 does not explain idiopathic pulmonary fibrosis among the Finns.		120620	9493	2	2005	We conclude that  G5507 is not a susceptibility allele for idiopathic pulmonary fibrosis among Finnish patients.	Control:164 population based controls;Case:96 Finnish patients with idiopathic pulmonary fibrosis:Finland										
119580	Y	anemia, malaria related; malaria, cerebral	HEMATOLOGICAL	HEM	Malaria, Cerebral|Malaria, Falciparum|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Thathy, V.  et al. 2005	16277654				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			CDC GDPinfo	1378	Hs.334019			Malaria journal [electronic resource]. 2005 ;4:54	Complement receptor 1 polymorphisms associated with resistance to severe malaria in Kenya.		120620	9494	2	2005	 These results support the hypothesis that the Sl2 allele and, possibly, the McCb allele evolved in the context of malaria transmission and that in certain combinations probably confer a survival advantage on these populations.											
119581		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Nath, S. K.  et al. 2005	16133175				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			CDC GDPinfo	1378	Hs.334019			Human genetics. 2005 Nov;118(2):225-34	Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.		120620	11651	2	2005												
119576		hemodialysis	OTHER	OTH		1	1q32	CR1	205736095	205881733		Tamano, M.  et al. 2004	15069174				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			CDC GDPinfo	1378	Hs.334019			Nephrology, dialysis, transplantation. 2004 Jun;19(6):1467-73	Quantitative polymorphism of complement receptor type 1 (CR1) in patients undergoing haemodialysis		120620	9490	2	2004	 Use of a non-biocompatible dialysis membrane may contribute to acquired loss of E-CR1 in haemodialysis patients.	Control normal controls;Case:195 Japanese hemodialysis patients										
119577	Y	nephropathy	RENAL	REN	Glomerulonephritis|Autoimmune Diseases|Immune Complex Diseases|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Katyal, M.  et al. 2004	15072851				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	Indian	India	CDC GDPinfo	1378	Hs.334019			Molecular immunology. 2004 Apr;40(18):1325-32	Association of complement receptor 1 (CR1, CD35, C3b/C4b receptor) density polymorphism with glomerulonephritis in Indian subjects		120620	9491	2	2004	This is the first study of its kind in the Indian population, in which, the direct effect of a particular genotype on the E-CR1 levels and its possible association with the disease has been studied simultaneously.	Control:117 normal Indian subjects;Case:65 Indian patients suffering from glomerulonephritis										
119573	Y	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Zorzetto, M.  et al. 2003	12773320				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			CDC GDPinfo	1378	Hs.334019			American journal of respiratory and critical care medicine. 2003 Aug;168(3):330-4	Complement receptor 1 gene polymorphisms are associated with idiopathic pulmonary fibrosis		120620	9487	2	2003	These findings agree with speculations on the role of the complement receptor 1 gene in idiopathic pulmonary fibrosis.	Control:166:controls;Case:74 patients with pulmonary fibrosis										
119574	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis B, Chronic|Liver Cirrhosis|Adhesions	1	1q32	CR1	205736095	205881733		Mao, Y. L.  et al. 2003	12869997				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			CDC GDPinfo	1378	Hs.334019			Zhonghua shi yan he lin chuang bing du xue za zhi. 2003 Jun;17(2):146-8	[Changes of ECR1 genomic density polymorphism, quantitative expression and the activity of ECR1 natural adhesion in patients with chronic hepatitis]		120620	9488	2	2003	 Defective expression of ECR1 in chronic hepatitis B may be acquired through central and/or peripheral mechanisms. It is very important to study the quantitative expression in the patients with chronic hepatitis.	Case patients with chronic hepatitis;Control healthy individuals										
119570		malaria	INFECTION	INF	Malaria, Falciparum|alpha-Thalassemia	1	1q32	CR1	205736095	205881733		Cockburn IA 2004	14694201				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3		Papua New Guinea	KGB	1378	Hs.334019			Proceedings of the National Academy of Sciences of the United States of America. 2004 Jan;101(1):272-7	A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria.		120620	1407	1	2004												
119571		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Mitchell JA 1989	2575471				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Clinical and experimental immunology. 1989 Dec;78(3):354-8	CR1 polymorphism in hydralazine-induced systemic lupus erythematosus: DNA restriction fragment length polymorphism.		120620	1408	1	1989												
119572	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	1	1q32	CR1	205736095	205881733		Zorzetto, M.  et al. 2002	12091241				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3		Italy	CDC GDPinfo	1378	Hs.334019			American journal of respiratory cell and molecular biology. 2002 Jul;27(1):17-23	Complement receptor 1 gene polymorphisms in sarcoidosis.		120620	9486	2	2002	These findings agree with speculations on the role of CR1 gene as a possible susceptibility factor.	Case:91 sarcoid patients;Control:94/71 healthy volunteers (N=94) and patients with chronic obstructive pulmonary disease (n=71)										
119567		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Tebib JG 1989	2573360				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Arthritis and rheumatism. 1989 Nov;32(11):1465-9	The frequency of complement receptor type 1 (CR1) gene polymorphisms in nine families with multiple cases of systemic lupus erythematosus.		120620	1404	1	1989												
119568		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Cornillet P 1992	1352746				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	French	France	Y Wang	1378	Hs.334019			Clinical and experimental immunology. 1992 Jul;89(1):22-5	Increased frequency of the long (S) allotype of CR1 (the C3b/C4b receptor, CD35) in patients with systemic lupus erythematosus.		120620	1405	1	1992												
119569		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Kiss E 1996	9161700				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Autoimmunity. 1996 ;25(1):53-8	CR1 density polymorphism and expression on erythrocytes of patients with systemic lupus erythematosus.		120620	1406	1	1996												
119564		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Moulds JM 1996	8706338				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Clinical and experimental immunology. 1996 Aug;105(2):302-5	Structural polymorphisms of complement receptor 1 (CR1) in systemic lupus erythematosus (SLE) patients and normal controls of three ethnic groups.		120620	1401	1	1996												
119565		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1q32	CR1	205736095	205881733		Ruuska PE 2004	1352745				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Clinical and experimental immunology. 1992 Jul;89(1):18-21	Normal C3b receptor (CR1) genomic polymorphism in patients with insulin-dependent diabetes mellitus (IDDM): is the low erythrocyte CR1 expression an acquired phenomenon?		120620	1402	1	2004												
119566		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Mitchell JA 1989	2721176				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Complement and inflammation. 1989 ;6(2):88-93	Size polymorphism of the erythrocyte complement receptor type 1 (CR1) in systemic lupus erythematosus induced by hydralazine.		120620	1403	1	1989												
119561	Y	idiopathic pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Zorzetto M 2003	12773320				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			KGB	1378	Hs.334019			American journal of respiratory and critical care medicine. 2003 Aug;168(3):330-4	Complement receptor 1 gene polymorphisms are associated with idiopathic pulmonary fibrosis.		120620	1398	1	2003	These findings agree with speculations on the role of the complement receptor 1 gene in idiopathic pulmonary fibrosis.	Control:166:controls;Case:74 patients with pulmonary fibrosis										
119562		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Wilson JG 87	2881967				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Journal of immunology (Baltimore, Md :  1950). 1987 Apr;138(8):2708-10	Deficiency of the C3b/C4b receptor (CR1) of erythrocytes in systemic lupus erythematosus: analysis of the stability of the defect and of a restriction fragment length polymorphism of the CR1 gene.		120620	1399	1	1987												
119563		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q32	CR1	205736095	205881733		Van Dyne S 87	2958190				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3			Y Wang	1378	Hs.334019			Clinical and experimental immunology. 1987 Jun;68(3):570-9	The polymorphism of the C3b/C4b receptor in the normal population and in patients with systemic lupus erythematosus.		120620	1400	1	1987												
119558	Y	variable myopathy	OTHER	OTH	Mitochondrial Myopathies	1	1p32	CPT2	53434688	53452455		Vladutiu GD et al. 2000	10873395				carnitine palmitoyltransferase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000098			KGB	1376	Hs.274336			Mol Genet Metab	A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.		600650	1396	1	2000												
119559		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1p32	CPT2	53434688	53452455		Tripodi, G.  et al. 2005	15647998				Carnitine palmitoyltransferase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000098.1			CDC GDPinfo	1376	Hs.274336			Journal of renal nutrition. 2005 Jan;15(1):7-Feb	Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.		600650	24159	2	2005	 These results identify the carnitine-transporter gene family as candidate modifiers of LVMI in human hypertension. The use of common SNPs to define informative haplotypes associated with the phenotype of interest is the starting point for progress toward identification of the trapped contributing SNP(s).	Cohort 215 never-treated, middle-aged patients with mild essential hypertension 										
119560	Y	severe malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	1	1q32	CR1	205736095	205881733		Bellamy R et al. 1998	9861406				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	West African	Gambia	KGB	1378	Hs.334019			Transactions of the Royal Society of Tropical Medicine and Hygiene. 1998 May-Jun;92(3):312-6	Absence of an association between intercellular adhesion molecule 1 complement receptor 1 and interleukin 1 receptor antagonist gene polymorphisms and severe malaria in a West African population.		120620	1397	1	1998												
119555		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Thrombophilia	13	13q14.11	CPB2	45525322	45577212		Juhan-Vague, I.  et al. 2002	12006404				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2		Europe	CDC GDPinfo	1361	Hs.512937			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):867-73	Plasma thrombin-activatable fibrinolysis inhibitor antigen concentration and genotype in relation to myocardial infarction in the north and south of Europe.		603101	15882	2	2002	There was a difference in allele frequency between cases and controls for the Ala147Thr polymorphism, with Thr147 allele carriers being more frequent in controls than in cases in 2 centers, Stockholm (P=0.03) and San Giovanni Rotondo (P=0.03); the odds ratio for the entire cohort was 0.78 (P<0.05). In conclusion, patients with a recent MI presented lower values of TAFI Ag and higher frequencies of the "TAFI-decreasing" alleles. The geographical differences observed do not contribute to explaining the North-South gradient in MI risk in Europe.	Case:598 men recruited 3 to 6 months after MI northern and southern Europe;Control:653 age-matched controls										
119556		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	13	13q14.11	CPB2	45525322	45577212	n.s.	De Maat, M. P.  et al. 2004	15333035			coding sequence	Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2			CDC GDPinfo	1361	Hs.512937			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes	1926447	603101	19407	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
119557		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	11	11q13.1-q13.2	CPT1A	68278663	68365881		Tripodi, G.  et al. 2005	15647998				Carnitine palmitoyltransferase 1A (liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001876.2			CDC GDPinfo	1374	Hs.503043			Journal of renal nutrition. 2005 Jan;15(1):7-Feb	Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.		600528	15884	2	2005	 These results identify the carnitine-transporter gene family as candidate modifiers of LVMI in human hypertension. The use of common SNPs to define informative haplotypes associated with the phenotype of interest is the starting point for progress toward identification of the trapped contributing SNP(s).	Cohort 215 never-treated, middle-aged patients with mild essential hypertension 										
119552	Y	blood pressure	CARDIOVASCULAR	CARD		13	13q14.11	CPB2	45525322	45577212		Koschinsky, M.  et al. 2001	11903334				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2			CDC GDPinfo	1361	Hs.512937			Clinical genetics. 2001 Nov;60(5):345-9	Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAF1) with blood pressure.		603101	9483	2	2001	Although the mechanism underlying the association is unclear, the findings are of interest because TAFI may provide a link between coagulation and blood pressure regulation.	Cohort aboriginal Canadians 										
119553	Y	angina	CARDIOVASCULAR	CARD	Angina Pectoris	13	13q14.11	CPB2	45525322	45577212		Morange, P. E.  et al. 2003	12624641				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2		France|Northern Ireland	CDC GDPinfo	1361	Hs.512937			Thrombosis and haemostasis. 2003 Mar;89(3):554-60	Association between TAFI antigen and Ala147Thr polymorphism of the TAFI gene and the angina pectoris incidence. The PRIME Study (Prospective Epidemiological Study of MI).		603101	9484	2	2003	Genotyping for the Ala147Thr polymorphism seems to be a reliable tool to assess the risk mediated by TAFI.	Case:143 participants (81 from France and 62 from Ireland) who subsequently developed angina pectoris France and Northern Ireland;Control:286 age-matched participants who remained free of disease during the 5 years of follow-up										
119554	N	cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Arteriosclerosis|Cadaver	13	13q14.11	CPB2	45525322	45577212		Akatsu, H.  et al. 2004	15521922				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2			CDC GDPinfo	1361	Hs.512937			British journal of haematology. 2004 Nov;127(4):440-7	TAFI polymorphisms at amino acids 147 and 325 are not risk factors for cerebral infarction.		603101	9485	2	2004	None of our results showed any statistical correlation between TAFI polymorphisms and CI.	Control patients with no vascular problems and population-based controls;Case:253 cliniconeuropathologically confirmed cases of cerebral infaction										
119549	Y	hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	4	4p13-p12	CORIN	47290774	47534816		Dries, D. L.  et al. 2005	16216958				Corin, serine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006587			CDC GDPinfo	10699	Hs.518618			Circulation. 2005 Oct;112(16):2403-10	Corin gene minor allele defined by 2 missense mutations is common in blacks and associated with high blood pressure and hypertension.		605236	9481	2	2005	 The corin I555 (P568) allele is common in blacks and is associated with higher blood pressure and an increased risk for prevalent hypertension.											
119550	Y	thrombin-activatable fibrinolysis inhibitor levels	HEMATOLOGICAL	HEM		13	13q14.11	CPB2	45525322	45577212		Brouwers GJ et al. 2001	11565542				carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M75106			KGB	1361	Hs.512937			Blood. 2001 Sep;98(6):1992-3	A novel possibly functional single nucleotide polymorphism in the coding region of the thrombin-activatable fibrinolysis inhibitor (TAFI) gene is also associated with TAFI levels.		603101	1395	1	2001												
119551		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	13	13q14.11	CPB2	45525322	45577212		Franco, R. F.  et al. 2001	11410415			promoter	Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2		Brazil	CDC GDPinfo	1361	Hs.512937			Haematologica. 2001 May;86(5):510-7	Identification of polymorphisms in the 5'-untranslated region of the TAFI gene:relationship with plasma TAFI levels and risk of venous thrombosis.		603101	9482	2	2001	Polymorphisms in the TAFI promoter determine plasma antigen levels and may influence the risk of venous thrombophilia.	Case:388 patients with deep venous thrombosis;Control:388:controls										
119546	N	osteoarthrosis	OTHER	OTH	Osteoarthritis, Hip|Osteoarthritis, Knee	19	19p13.1	COMP	18754582	18763114		Mabuchi, A.  et al. 2001	11501943				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2	Japanese		CDC GDPinfo	1311	Hs.1584			Journal of human genetics. 2001 ;46(8):456-62	Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.		600310	9471	2	2001	The results do not support an association between COMP and OA in the Japanese population.	Case patients with osteoarthrosis;Control not specified in abstract										
119547		multiple epiphyseal dysplasia; pseudoachondroplasia	DEVELOPMENTAL	DEV	Osteochondrodysplasias	19	19p13.1	COMP	18754582	18763114		Mabuchi, A.  et al. 2004	15266613				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2			CDC GDPinfo	1311	Hs.1584			American journal of medical genetics Part A. 2004 Aug;129(1):35-8	Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.		600310	15876	2	2004	Our results indicate that circulating COMP levels reflect genetic abnormalities in COMP, providing an easier, more rapid and cost-efficient method for diagnosing PSACH and particularly for MED.	Control:controls;Case:21 patients with pseudoachondroplasia or multiple epiphyseal dysplasia										
119548	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	19	19p13.1	COMP	18754582	18763114		Jakkula, E.  et al. 2004	15523498				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2			CDC GDPinfo	1311	Hs.1584			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		600310	25885	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
119543	N	osteoarthrosis	OTHER	OTH	Osteoarthritis, Hip|Osteoarthritis, Knee	19	19p13.1	COMP	18754582	18763114		Mabuchi A et al. 2001	11501943				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2			KGB	1311	Hs.1584	knee and hip joints		Journal of human genetics. 2001 ;46(8):456-62	Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.		600310	1392	1	2001	The results do not support an association between COMP and OA in the Japanese population.	Case patients with osteoarthrosis;Control not specified in abstract										
119544		pseudoachondroplasia and multiple epiphyseal dysplasia	OTHER	OTH	Dwarfism|Achondroplasia|Osteochondrodysplasias	19	19p13.1	COMP	18754582	18763114		Mabuchi A et al. 2003	12483304				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2			KGB	1311	Hs.1584			Human genetics. 2003 Jan;112(1):84-90	Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.		600310	1393	1	2003												
119545		pseudoachondroplasia	DEVELOPMENTAL	DEV	Osteochondrodysplasias|Genetic Predisposition to Disease	19	19p13.1	COMP	18754582	18763114		Spitznagel L 2004	14580238	His587-->Arg			Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2			KGB	1311	Hs.1584			The Biochemical journal. 2004 Jan;377(Pt 2):479-87	Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).		600310	1394	1	2004												
119539	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	20	20q13.3	COL9A3	60918858	60942956		Jakkula, E.  et al. 2004	15523498				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDPinfo	1299	Hs.126248			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		120270	24155	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
119540		disc degeneration	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	20	20q13.3	COL9A3	60918858	60942956		Solovieva, S.  et al. 2005	16133074				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDPinfo	1299	Hs.126248			European spine journal. 2005	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.		120270	25884	2	2005												
119542		end-plate acetylcholinesterase deficiency (Type Ic)	OTHER	OTH	Neuromuscular Diseases|Syndrome	3	3p25	COLQ	15466643	15538262		Donger C et al. 1998	9758617				Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005677.2			KGB	8292	Hs.146735			American journal of human genetics. 1998 Oct;63(4):967-75	Mutation in the human acetylcholinesterase-associated collagen gene COLQ is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).		603033	6567	1	1998												
119536	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	20	20q13.3	COL9A3	60918858	60942956		Asamura, K.  et al. 2005	15917166				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDPinfo	1299	Hs.126248			Auris, nasus, larynx. 2005 Jun;32(2):113-7	Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.		120270	15875	2	2005	The present data indicate that mutations of COL9A3 may cause non-syndromic hearing impairment.	Control:150 normal controls;Case:159 non-syndromic sensorineural deafness patients										
119537		osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Osteoarthritis, Knee	20	20q13.3	COL9A3	60918858	60942956		Ikeda, T.  et al. 2002	12096843				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2	Japanese		CDC GDPinfo	1299	Hs.126248			Journal of bone and mineral research. 2002 Jul;17(7):1290-6	Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.		120270	20821	2	2002	Our studies have identified two susceptibility loci	Control:289:controls;Case:417 osteoarthritis patients:Japan										
119538		intervertebral disc disease	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	20	20q13.3	COL9A3	60918858	60942956		Kales, S. N.  et al. 2004	15167667				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2	Greek	Greece	CDC GDPinfo	1299	Hs.126248			Spine. 2004 Jun;29(11):1266-70	The Role of Collagen IX Tryptophan Polymorphisms in Symptomatic Intervertebral Disc Disease in Southern European Patients		120270	20822	2	2004	 The differences in Trp allele frequency we found between Greek and Finnish patients with intervertebral disc disease most likely represent true differences in polymorphism prevalence between the respective populations. The 2 previously described Trp alleles in COL9A2 and COL9A3 are likely to be less significant susceptibility factors for intervertebral disc disease development in Southern European populations.	Control:102 age-matched controls without spinal complaints from:hospitals;Case:105 symptomatic patients with radiographically and/or surgically proven lumbar (98%, n = 103) or cervical (2%, n = 2) intervertebral disc disease:Athens, Greece										
119533		osteoarthritis	METABOLIC	MET	Osteoarthritis	1	1p33-p32	COL9A2	40538749	40555647		Jakkula, E.  et al. 2005	15922184				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			CDC GDPinfo	1298	Hs.418012			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		120260	26813	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
119534		disc degeneration, lumbar spine	AGING	AGE	Intervertebral Disk Displacement|Obesity|Chronic Disease	20	20q13.3	COL9A3	60918858	60942956		Solovieva, S.  et al. 2002	12461395				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2		Finland	CDC GDPinfo	1299	Hs.126248			Spine. 2002 Dec;27(23):2691-6	COL9A3 Gene Polymorphism and Obesity in Intervertebral Disc Degeneration of the Lumbar Spine: Evidence of Gene-Environment Interaction		120270	9470	2	2002	 The effect of obesity on lumbar disc degeneration seems to be modified by the collagen IX gene polymorphism, so that people who carry the Trp3 allele are at increased risk if they are persistently obese.	Cohort 135 middle-aged men who had undergone magnetic resonance imaging (MRI) of the lumbar spine 	obesity									
119535	N	sciatica	UNKNOWN	UNK		20	20q13.3	COL9A3	60918858	60942956		Karppinen, J.  et al. 2003	12601188				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDPinfo	1299	Hs.126248			Radiology. 2003 Apr;227(1):143-8	Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.		120270	15874	2	2003	 The results of this study indicate that the presence of Trp3 allele is associated with Scheuermann disease and intervertebral disk degeneration. No associations were found for other radiologic phenotypes.	Cohort 153 patients with sciatica 										
119530		lumbar disk disease	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Paassilta, P.  et al. 2001	11308397				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3		Finland	CDC GDPinfo	1298	Hs.418012			JAMA. 2001 Apr;285(14):1843-9	Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease		120260	15871	2	2001	 This study led to the identification of a novel common genetic risk factor for LDD, confirming that genetic risk factors likely play a significant role in LDD.	Case:171 individuals with lumbar disk disease;Control:321 controls (186 healthy individuals, 83 patients with primary osteoarthritis, 31 with rheumatoid arthritis, and 21 with chondrodysplasias):Finland February 1997 to May 1998										
119531	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	1	1p33-p32	COL9A2	40538749	40555647		Jakkula, E.  et al. 2004	15523498				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			CDC GDPinfo	1298	Hs.418012			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		120260	20820	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
119532		disc degeneration	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Solovieva, S.  et al. 2005	16133074				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			CDC GDPinfo	1298	Hs.418012			European spine journal. 2005	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.		120260	24154	2	2005												
119527		intervertebral disc disease	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Kales, S. N.  et al. 2004	15167667				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3	Greek	Greece	CDC GDPinfo	1298	Hs.418012			Spine. 2004 Jun;29(11):1266-70	The Role of Collagen IX Tryptophan Polymorphisms in Symptomatic Intervertebral Disc Disease in Southern European Patients		120260	9466	2	2004	 The differences in Trp allele frequency we found between Greek and Finnish patients with intervertebral disc disease most likely represent true differences in polymorphism prevalence between the respective populations. The 2 previously described Trp alleles in COL9A2 and COL9A3 are likely to be less significant susceptibility factors for intervertebral disc disease development in Southern European populations.	Control:102 age-matched controls without spinal complaints from:hospitals;Case:105 symptomatic patients with radiographically and/or surgically proven lumbar (98%, n = 103) or cervical (2%, n = 2) intervertebral disc disease:Athens, Greece										
119528	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Takata, Y.  et al. 2005	16249825				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3	Japanese		CDC GDPinfo	1298	Hs.418012			Clinical rheumatology. 2005	The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population.		120260	9468	2	2005												
119529		disc degeneration	AGING	AGE	Spinal Diseases	1	1p33-p32	COL9A2	40538749	40555647			16371896				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			CDC GDPinfo	1298	Hs.418012			Spine. 2005 Dec;30(24):2735-42	The TRP2 allele of COL9A2 is an age-dependent risk factor for the development and severity of intervertebral disc degeneration		120260	9469	2	2005	 This largest-ever population study using MRI to define DDD demonstrates for the first time that the Trp2 allele is a significant risk factor for the development and severity of degeneration. The association is age- dependent as it is more prevalent in some age groups than in others. The contrasting Trp allele frequencies between the Finns and the Chinese are the first indication that the genetic risk factors for DDD varies between ethnic groups.											
119524		osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6q12-q14	COL9A1	70982528	71069494		Jakkula, E.  et al. 2005	15922184				Collagen, type IX, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001851.3			CDC GDPinfo	1297	Hs.590892			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		120210	25883	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
119525	Y	intervertebral disc disease	OTHER	OTH	Intervertebral Disk Displacement|Sciatica|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Annunen S et al. 1999	10411504				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			KGB	1298	Hs.418012			Science. 1999 Jul;285(5426):409-12	An allele of COL9A2 associated with intervertebral disc disease.		120260	1388	1	1999												
119526		sciatica	UNKNOWN	UNK	Sciatica|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Karppinen, J.  et al. 2002	11805640				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3		Finland	CDC GDPinfo	1298	Hs.418012			Spine. 2002 Jan;27(1):78-83	Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.		120260	9465	2	2002	 The patients with the Trp2 allele were more flexible, and more often tended to have a radial tear in a nonherniated disc than their control counterparts.	Cohort 159 patients with sciatica 										
119521		dystrophic epidermolysis bullosa	UNKNOWN	UNK	Epidermolysis Bullosa Dystrophica	3	3p21.1	COL7A1	48576509	48607689		Csikos, M.  et al. 2005	15888141	425A-->G			Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000094.2		Europe	CDC GDPinfo	1294	Hs.476218			The British journal of dermatology. 2005 May;152(5):879-86	High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detectionstrategies in dystrophic epidermolysis bullosa.		120120	15869	2	2005	 High recurrence of the splice-site mutation 425A-->G in central European patients with DEB should be taken into account when designing COL7A1 mutation detection strategies. Reporting of three novel COL7A1 mutations in this study further emphasizes the molecular heterogeneity of DEB and provides more information for studies on genotype-phenotype correlations in different DEB subtypes.											
119522	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip	6	6q12-q14	COL9A1	70982528	71069494		Alizadeh, B. Z.  et al. 2005	15880806				Collagen, type IX, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001851.3			CDC GDPinfo	1297	Hs.590892			Arthritis and rheumatism. 2005 May;52(5):1437-42	Evidence for a role of the genomic region of the gene encoding for the alpha1 chain of type IX collagen (COL9A1) in hip osteoarthritis: Apopulation-based study.		120210	15870	2	2005	 Our data suggest that susceptibility for hip OA is conferred within or close to the COL9A1 gene in linkage disequilibrium with the COL9A1 509-8B2 marker.	Control:269 controls without radiographic osteoarthritis;Case:71 patients with radiographic hip osteoarthritis from the Rotterdam Study										
119523	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	6	6q12-q14	COL9A1	70982528	71069494		Jakkula, E.  et al. 2004	15523498				Collagen, type IX, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001851.3			CDC GDPinfo	1297	Hs.590892			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		120210	15872	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
119518		Ullrich congenital muscular dystrophy	OTHER	OTH	Muscular Dystrophies	21	21q22.3	COL6A1	46226090	46249391		Pan TC 2003	12840783				Collagen, type VI, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001848.2			KGB	1291	Hs.474053			American journal of human genetics. 2003 Aug;73(2):355-69	New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.		120220	1387	1	2003												
119519	Y	skeletal hyperostosis	UNKNOWN	UNK	Hyperostosis, Diffuse Idiopathic Skeletal|Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	21	21q22.3	COL6A1	46226090	46249391		Tsukahara, S.  et al. 2005	16227896				Collagen, type VI, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001848.2	Japanese		CDC GDPinfo	1291	Hs.474053			Spine. 2005 Oct;30(20):2321-4	COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese.		120220	15867	2	2005	 Because COL6A1 could be a susceptibility to the occurrence of DISH and OPLL in the Japanese population, we consider that COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament.											
119520		dystrophic epidermolysis bullosa	UNKNOWN	UNK	Epidermolysis Bullosa Dystrophica	3	3p21.1	COL7A1	48576509	48607689		Gardella, R.  et al. 2002	12485454				Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000094.2	Italian	Italy	CDC GDPinfo	1294	Hs.476218			The Journal of investigative dermatology. 2002 Dec;119(6):1456-62	Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.		120120	15868	2	2002	Indeed, haplotype analysis supported propagation of ancestral mutated alleles within the Italian population for these particular mutations. Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations.	Case:51 Italian dystrophic epidermolysis bullosa patients										
119515		Alport syndrome	DEVELOPMENTAL	DEV	Nephritis, Hereditary	X	Xq22	COL4A5	107569809	107827431		Wang, F.  et al. 2002	12478350				Collagen, type IV, alpha 5 (Alport syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000495.3	Chinese	China	CDC GDPinfo	1287	Hs.369089			Pediatric nephrology (Berlin, Germany). 2002 Dec;17(12):1013-20	Phenotypic and genotypic features of Alport syndrome in Chinese children.		303630	15866	2	2002	Chinese AS patients were characterized clinically with hematuria, heavy proteinuria, and more juvenile forms. Mutations in these patients were usually small mutations, while a large deletion involving the 5' part of both COL4A5 and COL4A6 genes was identified.	Cohort 44 unrelated Alport syndrome patients 										
119516		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	2	2q14-q32	COL5A2	189604885	189752850		McCarthy, J. J.  et al. 2003	14557872				Collagen, type V, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000393.3			CDC GDPinfo	1290	Hs.445827			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		120190	20819	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
119517		ossification of the posterior longitudinal ligament of the spine	METABOLIC	MET	Spinal Diseases|Ossification of Posterior Longitudinal Ligament	21	21q22.3	COL6A1	46226090	46249391		Tanaka T 2003	12958705				Collagen, type VI, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001848.2			KGB	1291	Hs.474053			American journal of human genetics. 2003 Oct;73(4):812-22	Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21~~~ as the locus for ossification of the posterior longitudinal ligament of the spine.		120220	1386	1	2003												
119512	Y	late-onset Alport syndrome	OTHER	OTH	Nephritis, Hereditary	X	Xq22	COL4A5	107569809	107827431		Turco AE et al. 1995	8825605				Collagen, type IV, alpha 5 (Alport syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000495.3			KGB	1287	Hs.369089			Clinical genetics. 1995 Nov;48(5):261-3	A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.		303630	1385	1	1995												
119513		Alport syndrome	DEVELOPMENTAL	DEV	Nephritis, Hereditary|Kidney Failure, Chronic|Disease Progression	X	Xq22	COL4A5	107569809	107827431		Albert I  et al. 2000	11051113				Collagen, type IV, alpha 5 (Alport syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000495.3		Europe	CDC GDPinfo	1287	Hs.369089			Journal of epidemiology and biostatistics. 2000 ;5(3):169-75	The use of frailty models in genetic studies:application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA).		303630	15864	2	2000	 This study shows the importance of characterising the mutation at the molecular level in genetic studies, to understand the relationship between genotype and phenotype. The frailty models constitute an attractive approach in this context, when the phenotype is characterised by a censored end-point.	Cohort European Community Alport Syndrome Concerted Action group (ECASCA) registry database 										
119514		Alport syndrome	DEVELOPMENTAL	DEV	Nephritis, Hereditary|Kidney Failure, Chronic	X	Xq22	COL4A5	107569809	107827431		Gross, O.  et al. 2002	12105244				Collagen, type IV, alpha 5 (Alport syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000495.3		Europe	CDC GDPinfo	1287	Hs.369089			Nephrology, dialysis, transplantation. 2002 Jul;17(7):1218-27	Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinicalcounselling.		303630	15865	2	2002	 Knowledge of the mutation adds significant information about the progress of renal and extrarenal disease in males with X-linked AS. We suggest that the considerable prognostic relevance of a patient's genotype should be included in the classification of the Alport phenotype.											
119509	N	Goodpasture's disease	RENAL	REN	Anti-Glomerular Basement Membrane Disease	2	2q36-q37	COL4A3	227737524	227887751		Persson, U.  et al. 2004	15199166				Collagen, type IV, alpha 3 (Goodpasture antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000091.3		Sweden	CDC GDPinfo	1285	Hs.570065			Nephrology, dialysis, transplantation. 2004 Aug;19(8):2030-5	Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.		120070	9464	2	2004	 This study effectively falsifies the hypothesis that a minor alteration in the COL4A3 gene could be a major factor in the aetiology of GP. Scandinavian GP patients have an MHC distribution similar to that which has been described previously for Anglo-Saxon patients.	Control:controls;Case:15 patients with Goodpasture's disease										
119510	Y	nephropathy, basement membrane	RENAL	REN	Nephritis, Hereditary|Hematuria|Proteinuria	2	2q36-q37	COL4A3	227737524	227887751		Wang, Y. Y.  et al. 2004	14871398				Collagen, type IV, alpha 3 (Goodpasture antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000091.3			CDC GDPinfo	1285	Hs.570065			Kidney international. 2004 Mar;65(3):786-90	COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN).		120070	15862	2	2004	 COL4A3 mutations are common in TBMN.	Cohort 62 unrelated individuals diagnosed with TBMN by renal biopsy (N= 49, 79%) or a positive family history of hematuria but without a biopsy (N= 13, 21%) 										
119511		nephropathy	RENAL	REN	Hematuria	2	2q35-q37	COL4A4	227575670	227737519		Buzza, M.  et al. 2003	12631110				Collagen, type IV, alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000092.3			CDC GDPinfo	1286	Hs.591645			Kidney international. 2003 Feb;63(2):447-53	Mutations in the COL4A4 gene in thin basement membrane disease.		120131	15863	2	2003	 Pathogenic COL4A4 mutations were demonstrated in three of the nine (33%) families in whom hematuria segregated with the COL4A3/COL4A4 locus. Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. The S969X mutation described here in TBMD for the first time, as well as the R1377X mutation, also occur in autosomal recessive Alport syndrome.	Cohort 48 unrelated individuals with thin basement membrane disease 										
119506	Y	coronary artery disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Disease|Angina, Unstable|Myocardial Infarction|Genetic Predisposition to Disease|Hemorrhage	2	2q31	COL3A1	189547343	189585717		Muckian, C.  et al. 2002	12149201				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			CDC GDPinfo	1281	Hs.443625			Blood. 2002 Aug;100(4):1220-3	Genetic variability in the extracellular matrix as a determinant of cardiovascular risk: associationof type III collagen COL3A1 polymorphisms with coronary artery disease		120180	15861	2	2002	We conclude that  variants in the COL3A1 gene, the product of which is a vessel-wall protein and platelet ligand, modulate the risk of coronary artery disease and could also modulate the response to antithrombotic therapy. This is the first reported association between polymorphisms of extracellular matrix components and cardiovascular risk.	Case:224 patients with stable angina;Control:306 control subjects:Cohort:703 acute coronary syndrome (ACS) patients with myocardial infarction (MI) and unstable angina:Cohort:924 Caucasian patients from the OPUS (Orbofiban in Patients with Unstable coronary Syndromes)										
119507	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	13	13q34	COL4A1	109599310	109757459	0.003	Suzuki A 2004	15081423				Collagen, type IV, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001845.3	Japanese	Japan	KGB	1282	Hs.17441			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		120130	1384	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119508		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	13	13q34	COL4A1	109599310	109757459		Suzuki, A.  et al. 2004	15081423				Collagen, type IV, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001845.3	Japanese	Japan	CDC GDPinfo	1282	Hs.17441			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		120130	24153	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119503		coronary artery disease	CARDIOVASCULAR	CARD		2	2q31	COL3A1	189547343	189585717		Martinez, L.  et al. 2005	15838180				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			CDC GDPinfo	1281	Hs.443625			Human heredity. 2005 ;59(2):109-17	Superimposing polymorphism: the case of a pointmutation within a polymorphic Alu insertion.		120180	9463	2	2005	It is possible that superimposing polymorphisms like this one found in the COL3A1 locus may accentuate signals from genetic drift events allowing for visualization of recent dispersal patterns.	Cohort individuals from 19 worldwide populations 										
119505	N	cervical artery dissection, spontaneous	CARDIOVASCULAR	CARD	Vertebral Artery Dissection|Aneurysm, Dissecting|Vertebral Artery Dissection	2	2q31	COL3A1	189547343	189585717		Von Pein, F.  et al. 2002	12140670				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			CDC GDPinfo	1281	Hs.443625			Journal of neurology. 2002 Jul;249(7):862-6	Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections.		120180	15860	2	2002	This study confirms and extends earlier work which suggests that COL3A1 mutations are not a major cause for isolated sCAD.	Case:45 patients with spontaneous cervical artery:dissection;Control:50 healthy control subjects										
119499	Y	Ehlers-Danlos syndrome type IV	OTHER	OTH	Ehlers-danlos Syndrome|Chromosome Deletion	2	2q31	COL3A1	189547343	189585717		Lee B et al. 1991	1998337				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			KGB	1281	Hs.443625			American journal of human genetics. 1991 Mar;48(3):511-7	Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.		120180	1381	1	1991												
119500	Y	mild Ehlers-Danlos syndrome type IV	OTHER	OTH	Ehlers-danlos Syndrome|Chromosome Deletion	2	2q31	COL3A1	189547343	189585717		Vissing H et al. 1991	2002056				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			KGB	1281	Hs.443625			The Journal of biological chemistry. 1991 Mar;266(8):5244-8	Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.		120180	1382	1	1991												
119501	N	scleroderma	OTHER	OTH	Scleroderma, Systemic	2	2q31	COL3A1	189547343	189585717	n	Kratz LE et al. 1989	2574578				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			KGB	1281	Hs.443625			Arthritis and rheumatism. 1989 Dec;32(12):1597-600	Lack of association between scleroderma and types I and III procollagen gene restriction fragment length polymorphisms.		120180	1383	1	1989												
119496		osteoarthritis	METABOLIC	MET	Osteoarthritis	12	12q13.11-q13.2	COL2A1	46653014	46684552		Zhai, G.  et al. 2004	15082485			promoter	Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			CDC GDPinfo	1280	Hs.408182			Annals of the rheumatic diseases. 2004 May;63(5):544-8	Insulin-like growth factor I gene promoter polymorphism, collagen type II alpha1 (COL2A1) gene, and the prevalence of radiographic osteoarthritis: the Rotterdam Study.		120140	9461	2	2004	 SUBJECTS: with genetically determined low IGF-I expression (non-carriers of the 192 bp allele) may be at increased risk of ROA before the age of 65 years. Furthermore, an interaction between the IGF-I and COL2A1 genes is suggested.	Cohort 1,546/808 individuals genotyped for IGF-I (n = 1546) and COL2A1 gene polymorphisms (n = 808) were selected from a random sample (n = 1583) derived from the Rotterdam study 		IGF-I		COL2A1				Y	aged 65 years or younger	radiographic osteoarthritis
119497		disc degeneration	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	12	12q13.11-q13.2	COL2A1	46653014	46684552		Solovieva, S.  et al. 2005	16133074				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			CDC GDPinfo	1280	Hs.408182			European spine journal. 2005	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.		120140	20818	2	2005												
119498		osteoarthritis	METABOLIC	MET	Osteoarthritis	12	12q13.11-q13.2	COL2A1	46653014	46684552		Jakkula, E.  et al. 2005	15922184				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			CDC GDPinfo	1280	Hs.408182			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		120140	24152	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
119493	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility	12	12q13.11-q13.2	COL2A1	46653014	46684552	n	Pile KD et al. 1993	8508280				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			KGB	1280	Hs.408182			British journal of rheumatology. 1993 Jun;32(6):456-7	Susceptibility to rheumatoid arthritis is not associated with a single common allele of the type 2 collagen gene (COL2A1)		120140	1380	1	1993												
119494		osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Osteoarthritis, Knee	12	12q13.11-q13.2	COL2A1	46653014	46684552		Ikeda, T.  et al. 2002	12096843				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3	Japanese		CDC GDPinfo	1280	Hs.408182			Journal of bone and mineral research. 2002 Jul;17(7):1290-6	Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.		120140	9459	2	2002	Our studies have identified two susceptibility loci	Control:289:controls;Case:417 osteoarthritis patients:Japan										
119495		osteoarthritis; hip dysplasia	AGING	AGE	Osteoarthritis, Hip|Hip Dislocation, Congenital|Genetic Predisposition to Disease	12	12q13.11-q13.2	COL2A1	46653014	46684552		Granchi, D.  et al. 2002	12360016				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			CDC GDPinfo	1280	Hs.408182			Clinical orthopaedics and related research. 2002 Oct;(403):108-17	Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia.		120140	9460	2	2002	These results indicate that genetic markers could contribute to the understanding of the natural history of this disease.	Case:143 patients having a total hip replacement for idiopathic osteoarthritis or osteoarthritis secondary to developmental hip dysplasia										
119490	Y	Osteoarthritis	AGING	AGE	Osteoarthritis, Hip|Hip Dislocation, Congenital|Genetic Predisposition to Disease	12	12q13.11-q13.2	COL2A1	46653014	46684552		Granchi D 2004	12360016	PvuII restriction site of the COL2A1			Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3	Caucasian-total joint replacement		KGB	1280	Hs.408182	Secondary to Hip Dysplasia		Clinical orthopaedics and related research. 2002 Oct;(403):108-17	Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia.		120140	1377	1	2004	These results indicate that genetic markers could contribute to the understanding of the natural history of this disease.	Case:143 patients having a total hip replacement for idiopathic osteoarthritis or osteoarthritis secondary to developmental hip dysplasia										
119491	Y	retinal detachment	OTHER	OTH	Eye Diseases|Retinal Degeneration|Retinal Detachment|Retinal Perforations|Connective Tissue Diseases|Syndrome	12	12q13.11-q13.2	COL2A1	46653014	46684552		Go SL 2003	12939326				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			KGB	1280	Hs.408182			Investigative ophthalmology & visual science. 2003 Sep;44(9):4035-43	Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.		120140	1378	1	2003	 In two large families with RRD, linkage was found at the COL2A1 locus. In one of these families an Arg453Ter mutation was identified, which is surprising, because all predominantly ocular Stickler syndrome cases until now have been associated with protein-truncating mutations in exon 2, an exon subject to alternative splicing. In contrast, the Arg453Ter mutation and other protein-truncating mutations in the helical domain of COL2A1 have been associated until now with classic Stickler syndrome.											
119492		Strudwick variant of spondyloepimetaphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias|Congenital Abnormalities	12	12q13.11-q13.2	COL2A1	46653014	46684552		Tysoe C 2003	12925722				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			KGB	1280	Hs.408182			QJM. 2003 Sep;96(9):663-71	A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.		120140	1379	1	2003												
119487		osteoarthritis of the knee	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	12	12q13.11-q13.2	COL2A1	46653014	46684552		Uitterlinden AG et al. 2000	10902746				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3		Netherlands	KGB	1280	Hs.408182			Arthritis and rheumatism. 2000 Jul;43(7):1456-64	Adjacent genes for COL2A1 and the vitamin D receptor are associated with separate features of radiographic osteoarthritis of the knee.		120140	1374	1	2000	 Our findings demonstrate that both the COL2A1 gene and the VDR gene are involved in ROA, but in separate features. The COL2A1 genotype is associated with JSN, while the VDR genotype is associated with osteophytes.											
119488	Y	Stickler syndrome (hereditary arthro-ophthalmopathy)	OTHER	OTH	Cartilage Diseases|Myopia|Retinal Detachment|Syndrome	12	12q13.11-q13.2	COL2A1	46653014	46684552		Brown DM et al. 1995	7711727				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			KGB	1280	Hs.408182			Human molecular genetics. 1995 Jan;4(1):141-2	Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).		120140	1375	1	1995												
119489	Y	Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis	DEVELOPMENTAL	DEV	Osteochondrodysplasias|Foot Deformities, Congenital|Hand Deformities, Congenital|Osteoarthritis	12	12q13.11-q13.2	COL2A1	46653014	46684552		Reginato AJ et al. 1994	8024616				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3		Chile	KGB	1280	Hs.408182			Arthritis and rheumatism. 1994 Jul;37(7):1078-86	Familial spondyloepiphyseal dysplasia tarda brachydactyly and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical radiographic and pathologic findin		120140	1376	1	1994												
119484		bone density	METABOLIC	MET	Osteoporosis|Body Weight	7	7q22.1	COL1A2	93861808	93898480		Lei, S. F.  et al. 2005	15917161				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Chinese		CDC GDPinfo	1278	Hs.489142			Maturitas. 2005 Jun;51(2):199-206	Bone mineral density and five prominent candidate genes in Chinese men: associations, interactioneffects and their implications.		120160	24151	2	2005	The results suggest that the AHSG gene is associated with the spine BMD in Chinese men. The present study represents the first effort to simultaneously investigate the effects of single gene locus as well as gene-by-gene interactions of multiple genes on BMD variation in Chinese men.	Cohort 258 unrelated healthy Chinese men aged 50-80 years 										
119485		bone density	NORMALVARIATION	NV		7	7q22.1	COL1A2	93861808	93898480		Willing, M. C.  et al. 2003	12879219				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			CDC GDPinfo	1278	Hs.489142			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		120160	25882	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
119486	N	osteoarthritis of the hip	AGING	AGE	Osteoarthritis, Hip	12	12q13.11-q13.2	COL2A1	46653014	46684552	n	Aerssens J et al. 1998	9811048				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3		Belgium	KGB	1280	Hs.408182			Arthritis and rheumatism. 1998 Nov;41(11):1946-50	Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR COL1A1 and COL2A1 in postmenopausal women.		120140	1373	1	1998	 In Belgian postmenopausal women, the examined polymorphisms of the candidate genes VDR, COL1A1, and COL2A1 do not significantly contribute to an increased prevalence of OAH or to differences in BMD.											
119481	N	otosclerosis	OTHER	OTH	Otosclerosis	7	7q22.1	COL1A2	93861808	93898480		Rodriguez, L.  et al. 2004	15211650				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Spanish	Spain	CDC GDPinfo	1278	Hs.489142			American journal of medical genetics Part A. 2004 Jul;128(1):19-22	Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain		120160	20815	2	2004	We found no evidence supporting the putative link of COL1A1 and COL1A2 genes with OTSC.	Control:controls;Case Caucasian individuals with otosclerosis Northwest Spain										
119482		hearing loss/deafness; osteogenesis imperfecta	OTHER	OTH	Osteogenesis Imperfecta|Hearing Loss	7	7q22.1	COL1A2	93861808	93898480		Hartikka, H.  et al. 2004	15241796				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			CDC GDPinfo	1278	Hs.489142			Human mutation. 2004 Aug;24(2):147-54	Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.		120160	20816	2	2004	These results suggest that the basis of hearing loss in OI is complex, and it is a result of multifactorial, still unknown genetic effects.	Cohort 54 Finnish osteogenesis imperfecta patients with previously diagnosed hearing loss or age 35 years or more 										
119483		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480		Chiu, C. J.  et al. 2002	12101112				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3		Taiwan	CDC GDPinfo	1278	Hs.489142			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		120160	20817	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid									
119478		bone mass	METABOLIC	MET		7	7q22.1	COL1A2	93861808	93898480		De Stefano, G. F.  et al. 2002	12160476				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			CDC GDPinfo	1278	Hs.489142			Annals of human biology. 2002 Jul-Aug;29(4):432-41	Analysis of three RFLPs of the COL1A2 (Type I Collagen) in the Amhara and the Oromo of Ethiopia.		120160	15858	2	2002	 The present findings suggest the presence of a differential level of genetic relatedness with south-Saharan peoples in the two Ethiopian groups, which could reflect their different history and seems to indicate the existence of genetic sub-structure within the country.	Cohort 171 Amhara and Oromo individuals Ethiopia 										
119479	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480		Yoneyama, T.  et al. 2004	14739420				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3		Japan	CDC GDPinfo	1278	Hs.489142			Stroke; a journal of cerebral circulation. 2004 Feb;35(2):443-8	Collagen Type I {alpha}2 (COL1A2) Is the Susceptible Gene for Intracranial Aneurysms		120160	15859	2	2004	 The variant of COL1A2 could be a genetic risk factor for IA patients with family history.	Case:260 intracranial aneurysm patients (including 115 familial cases);Control:293:controls	family history									
119475	Y	intracranial aneurysms	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480	0.00087	Yoneyama T 2004	14739420	Ala-459 and Pro-459			Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Japanese	Japan	KGB	1278	Hs.489142			Stroke; a journal of cerebral circulation. 2004 Feb;35(2):443-8	Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms.		120160	1372	1	2004	 The variant of COL1A2 could be a genetic risk factor for IA patients with family history.	Case:260 intracranial aneurysm patients (including 115 familial cases);Control:293:controls	family history									
119476	Y	bone mass	OTHER	OTH	Fractures, Bone|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480		Suuriniemi, M.  et al. 2003	12813128				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Finnish	Finland	CDC GDPinfo	1278	Hs.489142			Physiological genomics. 2003 Aug;14(3):217-24	Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls.		120160	9457	2	2003	We conclude that  the COL1A2 polymorphism is associated with nonosteoporotic fractures in prepubertal girls independently of bone density.	Cohort 244 prepubertal Finnish girls Finland 										
119477		bone density	METABOLIC	MET		7	7q22.1	COL1A2	93861808	93898480			16316921				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Colorado Indians of Ecuador		CDC GDPinfo	1278	Hs.489142			Annals of human biology. 2005 Sep-Oct;32(5):666-78	COL1A2 (type I collagen) polymorphisms in the Colorado Indians of Ecuador		120160	9458	2	2005	 The present findings suggest the presence of a low level of genetic relatedness between the Colorado and the Cayapa, despite their supposed common ethnogenesis. This confirms what has been inferred from other genetic data about the high degree of heterogeneity among Native Americans, even within the same linguistic branch, thus supporting the existence of genetic sub-structure within the central and southern American populations.											
119472	Y	osteoporosis	METABOLIC	MET		7	7q22.1	COL1A2	93861808	93898480	0.004-0.05	Liu XH 2003	14555266	intragenic marker MspI in the COL1A2 gene		other	Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Chinese		Yongjun Liu	1278	Hs.489142	BMD, bone size		Bone. 2003 Oct;33(4):614-9	Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families		120160	1369	1	2003												
119473	Y	fractures	OTHER	OTH	Fractures, Bone|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480		Suuriniemi M 2003	12813128				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3		Finland	KGB	1278	Hs.489142			Physiological genomics. 2003 Aug;14(3):217-24	Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls.		120160	1370	1	2003	We conclude that  the COL1A2 polymorphism is associated with nonosteoporotic fractures in prepubertal girls independently of bone density.	Cohort 244 prepubertal Finnish girls Finland										
119474		normal variation	NORMALVARIATION	NV		7	7q22.1	COL1A2	93861808	93898480		Willing MC 2003	12879219				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			KGB	1278	Hs.489142	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		120160	1371	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
119469		bone density	NORMALVARIATION	NV		17	17q21.3-q22.1	COL1A1	45616455	45633999		Willing, M. C.  et al. 2003	12879219				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		120150	24150	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
119470	Y	osteogenesis imperfecta	OTHER	OTH	Osteogenesis Imperfecta	7	7q22.1	COL1A2	93861808	93898480		Jaiswal AK et al. 1983	6313757				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			KGB	1278	Hs.489142			The Journal of clinical investigation. 1983 Oct;72(4):1262-7	Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.		120160	1367	1	1983												
119471	Y	systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	7	7q22.1	COL1A2	93861808	93898480		Hata R et al. 2000	10872800				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			KGB	1278	Hs.489142			Biochemical and biophysical research communications. 2000 May;272(1):36-40	Association of functional microsatellites in the human type I collagen alpha2 chain (COL1A2) gene with systemic sclerosis.		120160	1368	1	2000												
119466	N	bone density	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Braga, V.  et al. 2002	12016463				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Italy	CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2002 Jun;70(6):457-62	Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men.		120150	20811	2	2002	In conclusion, the polymorphism of CTR gene but not VDR and COLIA1 is associated with osteoporosis incidence and the levels of alkaline phosphatase and estradiol. The lower BMD in CC genotype is apparently associated in males with depressed bone formation and lower estradiol levels.	Cohort 253 a sample of unrelated Italian men 										
119467		bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Lau, H. H.  et al. 2005	15781005				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese		CDC GDPinfo	1277	Hs.172928			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		120150	20812	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
119468		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Suzuki, A.  et al. 2004	15081423				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Japanese	Japan	CDC GDPinfo	1277	Hs.172928			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		120150	20813	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119463		pregnancy loss, recurrent	REPRODUCTION	REP		17	17q21.3-q22.1	COL1A1	45616455	45633999		Sheehan, D.  et al. 2001	11383910				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Irish		CDC GDPinfo	1277	Hs.172928			Journal of endocrinological investigation. 2001 Apr;24(4):236-45	An assessment of genetic markers as predictors of bone turnover in healthy adults.		120150	20808	2	2001	These findings suggest that healthy Irish adults with either the tt or ff VDR genotype have higher rates of bone turnover than those with Tt or TT, or Ff or FF genotypes, respectively, and therefore may have a higher risk of low bone mineral density and osteoporosis in later life.	Cohort 118 healthy Irish adults (aged 19-67 yr) 										
119464		bone density; fractures	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Bandres, E.  et al. 2005	15966503				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Spanish	Spain	CDC GDPinfo	1277	Hs.172928			Journal of endocrinological investigation. 2005 Apr;28(4):312-21	Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women.		120150	20809	2	2005												
119465	Y	bone density	METABOLIC	MET	Body Weight	17	17q21.3-q22.1	COL1A1	45616455	45633999		Braga, V.  et al. 2000	11136533				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Italy	CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2000 Nov;67(5):361-366	Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women.		120150	20810	2	2000	These findings suggest an association between the COLIA1 gene polymorphism more with the age-related rate of bone loss than with peak bone mass, which apparently is somewhat affected by CTR gene polymorphism.	Cohort 663/52 663 postmenopausal (aged 48-85 years) and 52 perimenopausal (aged 47-53 years) women. 										
119461	N	osteoporosis; cirrhosis, primary biliary	METABOLIC	MET	Bone Diseases|Liver Cirrhosis, Biliary	17	17q21.3-q22.1	COL1A1	45616455	45633999		Lakatos, P. L.  et al. 2004	15049048				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Orvosi hetilap. 2004 Feb;145(7):331-6	[In Process Citation]		120150	17661	2	2004	 In contrast to previous studies the s allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.	Control:139 age-matched female subjects;Case:70 female patients with primary biliary cirrhosis										
119462		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Chiu, C. J.  et al. 2002	12101112				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Taiwan	CDC GDPinfo	1277	Hs.172928			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		120150	18324	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid	COL1A1	CC	COL1A2	AA			Y	increased risk of OSF with increasing number of high-risk alleles	oral submucous fibrosis
119457		bone density	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Barros, E. R.  et al. 2002	12185380				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Brazil	CDC GDPinfo	1277	Hs.172928			Brazilian journal of medical and biological research. 2002 Aug;35(8):885-93	Bone mineral density in young women of the city of Sao Paulo, Brazil: correlation with both collagentype I alpha 1 gene polymorphism and clinical aspects		120150	15854	2	2002	We conclude that  a family history of osteoporosis and age at menarche are factors that may influence bone mass in our population.	Cohort 220 young women Sao Paulo, Brazil 										
119458	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Gong, G.  et al. 2002	12447604				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2003 Feb;72(2):113-23	Association between bone mineral density and candidate genes in different ethnic populations and its implications.		120150	15855	2	2002	Review article											
119459	N	otosclerosis	OTHER	OTH	Otosclerosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Rodriguez, L.  et al. 2004	15211650				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Spanish	Spain	CDC GDPinfo	1277	Hs.172928			American journal of medical genetics Part A. 2004 Jul;128(1):19-22	Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain		120150	15856	2	2004	We found no evidence supporting the putative link of COL1A1 and COL1A2 genes with OTSC.	Control:controls;Case Caucasian individuals with otosclerosis Northwest Spain										
119454		bone cancer	CANCER	CAN	Bone Neoplasms|Body Weight	17	17q21.3-q22.1	COL1A1	45616455	45633999		Ruza, E.  et al. 2003	14528100				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Journal of pediatric hematology/oncology. 2003 Oct;25(10):780-6	Analysis of Polymorphisms of the Vitamin D Receptor, Estrogen Receptor, and Collagen Ialpha1 Genes and Their Relationship With Height in Children With Bone Cancer		120150	14716	2	2003	 Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene.	Control standards published for Spanish reference children according to sex and age;Case:58/36 osteosarcoma (n=58) and Ewing sarcoma (n=36):patients										
119455	Y	bone density; fractures, vertebral	METABOLIC	MET	Osteoporosis|Spinal Injuries	17	17q21.3-q22.1	COL1A1	45616455	45633999		Uitterlinden, A. G.  et al. 2004	15514891				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Netherlands	CDC GDPinfo	1277	Hs.172928			American journal of human genetics. 2004 Dec;75(6):1032-45	Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites		120150	14727	2	2004	The molecular mechanism whereby these moderate SOST genotype effects are mediated remains to be elucidated, but it is likely to involve differences in regulation of SOST gene expression.	Cohort 1,939 elderly men and women from a large population-based prospective-cohort study of Dutch whites The Netherlands 		SOST	promoter region (SRP3)	SOST	COLIA1 Sp1			Y	old age	"bone density fractures, vertebral"
119451		infertility, male	REPRODUCTION	REP	Osteoporosis|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Lei, S. F.  et al. 2003	12491092				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese	China	CDC GDPinfo	1277	Hs.172928			Journal of bone and mineral metabolism. 2003 ;21(1):34-42	Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity.		120150	11862	2	2003	Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.	Cohort 124 random individuals 										
119452	N	bone mass	METABOLIC	MET	Liver Cirrhosis, Biliary	17	17q21.3-q22.1	COL1A1	45616455	45633999		Pares, A.  et al. 2001	11230734				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Hepatology (Baltimore, Md). 2001 Mar;33(3):554-60	Collagen type Ialpha1 and vitamin D receptor gene polymorphisms and bone mass in primary biliary cirrhosis.		120150	14697	2	2001	In conclusion, the COLIA1 but not VDR polymorphism is a genetic marker of peak bone mass in patients with PBC, although the severity of cholestasis is the main factor for osteoporosis since it is associated with the rate of bone loss.	Cohort 61 women with primary biliary cirrhosis (age, 54.1 =/- 1.1 years) 										
119448		hip dislocation, congenital	DEVELOPMENTAL	DEV		17	17q21.3-q22.1	COL1A1	45616455	45633999		Jiang, J.  et al. 2005	15952128	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese		CDC GDPinfo	1277	Hs.172928			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):327-9	[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population]		120150	9454	2	2005	 There exists racial difference in the distribution of the PCOL2 and Sp1 polymorphisms of COL1A1 gene. The results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibility gene of CDH in Chinese population.											
119449	Y	lumbar disc disease	AGING	AGE	Spinal Diseases|Low Back Pain|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Tilkeridis, C.  et al. 2005	15994869				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Journal of medical genetics. 2005 Jul;42(7):e44	Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits.		120150	9455	2	2005	 A previously studied sequence change of the regulatory region of the COL1A1 gene, the same as has previously been associated with low BMD in many populations and LDD in older adults, showed a strong association with LDD in young male soldiers who were recently diagnosed with this disease.											
119450	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	17	17q21.3-q22.1	COL1A1	45616455	45633999		Yamada, Y.  et al. 2005	16114814	-1997G-->T			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Japanese	Japan	CDC GDPinfo	1277	Hs.172928			Human biology; an international record of research. 2005 Feb;77(1):27-36	Association of a -1997G-->T polymorphism of the collagen Ialpha1 gene with bone mineral density in postmenopausal Japanese women.		120150	9456	2	2005												
119445		bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Lau, E. M.  et al. 2004	15085313	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese	China	CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2004 Aug;75(2):133-7	The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women		120150	9451	2	2004	We conclude that  the COLI Al Sp1 binding site is absent in Hong Kong Chinese, whereas the COLI A2 Eco R1 and Puv II genetic polymorphisms may be associated with the BMD of elderly Chinese men.	Cohort 683 Chinese men and women Hong Kong 										
119446	Y	otosclerosis	OTHER	OTH	Osteoporosis|Otosclerosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		McKenna, M. J.  et al. 2004	15241219	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Otology & neurotology. 2004 Jul;25(4):447-50	Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a sharedgenetic etiology with osteoporosis.		120150	9452	2	2004	 Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COL1A1 gene.	Case:100 otosclerosis patients;Control:108 control subjects										
119447		bone density	METABOLIC	MET	Neoplasms	17	17q21.3-q22.1	COL1A1	45616455	45633999		Muszynska-Roslan, K.  et al. 2004	15638371				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Rocz Akad Med Bialymst. 2004 ;49 Suppl 1:46-8	Association of collagen type I alpha1 gene polymorphism with bone density in survivors of childhood cancer--preliminary report		120150	9453	2	2004	In conclusion, our preliminary observations suggest that COLIA1 genotype may affect bone accrual in a population treated for childhood cancer. Further investigations in a greater population are needed.	Cohort 41 survivors (15 girls) of childhood cancer (the mean age 8.9 years) 										
119442	Y	osteoporosis	METABOLIC	MET	Osteoporosis|Fractures, Bone|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Moskalenko, M. V.  et al. 2002	12575457				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Russia	CDC GDPinfo	1277	Hs.172928			Genetika. 2002 Dec;38(12):1699-703	[Analysis of association of Col1a1 gene alleles with the development of osteoporosis]		120150	9448	2	2002	Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.	Control individuals from northwestern Russia;Case:64/15/98 patients with severe osteoporosis complicated by fractures (n=64), children with idiopathic osteoporosis (n=15) and women with postmenopausal osteoporosis developed at the background of estadiol-deficiency state:Russia										
119443		bone density	METABOLIC	MET	Wrist Injuries|Fractures, Bone|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Gerdhem, P.  et al. 2003	14595528	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Swedish		CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2004 Mar;74(3):264-9	Association of the collagen type 1 (COL1A 1) Sp1 binding site polymorphism to femoral neck bone mineral density and wrist fracture in 1044 elderly Swedish women.		120150	9449	2	2003	The presence of at least one copy of the "s" allele was associated with lower femoral neck BMD and previous wrist fracture and in addition, it was related to an increased risk for wrist fracture.	Cohort 1,044 women, all 75 years old, participating in the population-based Osteoporosis Prospective Risk Assessment study in Malmo (OPRA) Sweden 										
119439		bone density	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Qureshi, A. M.  et al. 2002	11907712				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2002 Mar;70(3):158-63	COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy.		120150	9445	2	2002	Our data raise the possibility that COLIA1 genotyping could be used to target etidronate therapy to those most likely to respond in terms of FN BMD, with potential benefits in terms of economic cost and clinical outcome.	Cohort 108 perimenopausal women with osteopenia who had been randomized to receive cyclical etidronate therapy for 2 years with a 1-year treatment-free follow-up 	etidronate									
119440		osteoporosis	METABOLIC	MET	Osteoporosis|Femoral Neck Fractures	17	17q21.3-q22.1	COL1A1	45616455	45633999		Montanaro, L.  et al. 2002	12211646				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Clinical chemistry and laboratory medicine. 2002 Jun;40(6):550-3	Allele frequency of the G-->T mutation of the col1A1 gene analyzed by an ARMS-PCR in osteoporotic subjects with femoral neck fractures.		120150	9446	2	2002	There were 66.7% dominant SS subjects, 27.9% Ss heterozygotes and 5.4% ss recessive homozygotes.	Case:240 osteoporotic subjects with femur fractures										
119441	Y	bone mass	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Sluis, I. M.  et al. 2002	12232678				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Caucasian		CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2002 Nov;71(5):393-9	Collagen Ialpha1 polymorphism is associated with bone characteristics in Caucasian children and young adults.		120150	9447	2	2002	In conclusion, the COLIA1 polymorphism in children and young adults is associated with several bone characteristics. However, at least a part of the COLIA1 effect on bone mass may be related to differences in frame size.	Cohort 148 Caucasian children and young adults 										
119436		bone loss	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		MacDonald, H. M.  et al. 2001	11547832	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Journal of bone and mineral research. 2001 Sep;16(9):1634-41	COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss.		120150	9442	2	2001	We conclude that  women homozygous for the Sp1 polymorphism are at significantly increased risk of excess rates of bone loss at the spine, but this effect may be nullified by the use of HRT.	Cohort 734 women who were followed up over a 5- to 7-year period Scotland 	hormone replacement therapy									
119437	Y	femoral neck geometry	OTHER	OTH	Osteoporosis, Postmenopausal|Femoral Neck Fractures|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Qureshi, A. M.  et al. 2001	11683425				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2001 Aug;69(2):67-72	Association between COLIA1 Sp1 alleles and femoral neck geometry		120150	9443	2	2001	The association COLIAI genotype and increased femoral neck angle noted here may therefore contribute to the BMD-independent increase in hip fracture risk noted in previous studies of individuals who carry the 's' allele.	Case:153 patients with hip fracture;Control:183 normal subjects drawn at random from the local:population										
119438	Y	bone density; muscle strength	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Van Pottelbergh, I.  et al. 2001	11716195	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Osteoporosis international. 2001 ;12(10):895-901	Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men.		120150	9444	2	2001	In conclusion, the COL1A1 Sp1 polymorphism is associated with BMD at the forearm and upper limb muscle strength in elderly men, the findings of multivariate analyses suggesting that the genotype-specific differences for BMD might be mediated, at least in part, by differences in muscle strength.	Cohort community-dwelling men over age 70 years 										
119433	Y	mild osteogenesis imperfecta	OTHER	OTH	Osteogenesis Imperfecta|Otosclerosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		McKenna MJ et al. 1998	9752968				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			The American journal of otology. 1998 Sep;19(5):604-10	Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.		120150	1366	1	1998	 Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele.											
119434	Y	osteoporosis	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Lambrinoudaki, I.  et al. 2001	11508783	COL1A1 Sp1		intron	Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese	China	CDC GDPinfo	1277	Hs.172928			Journal of endocrinological investigation. 2001 Jul-Aug;24(7):499-502	Absence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Ialpha1 gene in Southern Chinese		120150	9440	2	2001	In conclusion, the "s" allele, associated with low BMD and increased fracture risk in Caucasians, is non-existent or very rare in the Southern Chinese population. The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations.	Cohort 181 women, aged 51.1+/-8.8 yr 										
119435	Y	bone fractures	OTHER	OTH	Fractures, Bone	17	17q21.3-q22.1	COL1A1	45616455	45633999		Efstathiadou, Z.  et al. 2001	11547828	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Journal of bone and mineral research. 2001 Sep;16(9):1586-92	Association of collagen Ialpha 1 Sp1 polymorphism with the risk of prevalent fractures: ameta-analysis.		120150	9441	2	2001	The meta-analysis suggests an important role for the Spl polymorphism in the regulation of fracture risk; however, potential heterogeneity across ethnic groups, age groups, and skeletal sites may be important to clarify in future studies. Very large studies or meta-analyses are required to document subtle genetic differences in fracture risk.	Cohort 3641 subjects from 13 eligible studies 										
119430	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999	0.006	Suzuki A 2004	15081423				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Japanese	Japan	KGB	1277	Hs.172928			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		120150	1363	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119431	Y	mild chondrodysplasia	OTHER	OTH	Osteochondrodysplasias|Osteoarthritis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Knowlton RG et al. 1990	2300123				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			The New England journal of medicine. 1990 Feb;322(8):526-30	Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia.		120150	1364	1	1990												
119432	Y	achondroplasia	DEVELOPMENTAL	DEV	Achondroplasia	17	17q21.3-q22.1	COL1A1	45616455	45633999		Fathman CG et al. 1985	2991928				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Proceedings of the National Academy of Sciences of the United States of America. 1985 Aug;82(16):5465-9	Nonrandom association of a type II procollagen genotype with achondroplasia.		120150	1365	1	1985												
119427	N	bone mineral density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999	n	Berg JP et al. 2000	10913946				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			European journal of endocrinology. 2000 Aug;143(2):261-5	The Sp1 binding site polymorphism in the collagen type I alpha 1 (COLIA1) gene is not associated with bone mineral density in healthy children adolescents and young adults.		120150	1360	1	2000												
119428	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Fractures|Fractures, Spontaneous	17	17q21.3-q22.1	COL1A1	45616455	45633999		Keen RW et al. 1999	10025922				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Arthritis and rheumatism. 1999 Feb;42(2):285-90	Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density increased fracture risk and increased collagen turnover.		120150	1361	1	1999	 These data support the findings that the COL1A1 gene polymorphism is associated with low BMD and fracture risk, and suggest a possible physiologic effect on total body turnover of type I collagen.											
119429		normal variation	NORMALVARIATION	NV		17	17q21.3-q22.1	COL1A1	45616455	45633999		Willing MC 2003	12879219				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		120150	1362	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
119424	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Pun YL et al. 1994	8129781				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Arthritis and rheumatism. 1994 Feb;37(2):264-9	Clinical correlations of osteoarthritis associated with a single-base mutation (arginine519 to cysteine) in type II procollagen gene. A newly defined pathogenesis.		120150	1357	1	1994												
119425		alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic	17	17q21.3-q22.1	COL1A1	45616455	45633999		Weiner FR et al. 1988	2906396				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Molecular aspects of medicine. 1988 ;10(2):159-68	Haplotype analysis of a type I collagen gene and its association with alcoholic cirrhosis in man.		120150	1358	1	1988												
119426	N	osteoporosis	AGING	AGE	Osteoporosis|Osteoporosis, Postmenopausal|Spinal Diseases|Fractures, Bone|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999	n	Pluijm SM 2004	14672895	The guanine (G) to thymidine (T) polymorphism in the first intron of the COLIA1 gene		5'promoter	Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2				1277	Hs.172928	intervertebral disc degeneration		Annals of the rheumatic diseases. 2004 Jan;63(1):71-7	Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women.		120150	1359	1	2004	 COLIA1 Sp1 polymorphism may be a genetic risk factor related to intervertebral disc degeneration in older people. Previously reported associations between the COLIAI Sp1 genotype and lower BMD or QUS values, higher levels of DPD/Cr, and an increased fracture risk in either men or women could not be confirmed.	Cohort 966 men and women (>/=65 years) of the Longitudinal Aging Study Amsterdam										
119421	Y	mild chondrodysplasia	OTHER	OTH	Osteochondrodysplasias|Osteoarthritis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Ala-Kokko L et al. 1990	1975693				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Proceedings of the National Academy of Sciences of the United States of America. 1990 Sep;87(17):6565-8	Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.		120150	1354	1	1990												
119422	Y	plasma protein C levels	METABOLIC	MET	Protein C Deficiency	17	17q21.3-q22.1	COL1A1	45616455	45633999		Couture P et al. 1998	9798967				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Canada	KGB	1277	Hs.172928			Thrombosis and haemostasis. 1998 Oct;80(4):551-6	Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.		120150	1355	1	1998												
119423	Y	femoral neck geometry	OTHER	OTH	Osteoporosis, Postmenopausal|Femoral Neck Fractures|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Qureshi AM et al. 2001	11683425				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Calcified tissue international. 2001 Aug;69(2):67-72	Association between COLIA1 Sp1 alleles and femoral neck geometry.		120150	1356	1	2001	The association COLIAI genotype and increased femoral neck angle noted here may therefore contribute to the BMD-independent increase in hip fracture risk noted in previous studies of individuals who carry the 's' allele.	Case:153 patients with hip fracture;Control:183 normal subjects drawn at random from the local:population										
119418	Y	prevalent fractures	OTHER	OTH	Fractures, Bone	17	17q21.3-q22.1	COL1A1	45616455	45633999		Efstathiadou Z et al. 2001	11547828				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			Journal of bone and mineral research. 2001 Sep;16(9):1586-92	Association of collagen Ialpha 1 Sp1 polymorphism with the risk of prevalent fractures: a meta-analysis.		120150	1351	1	2001	The meta-analysis suggests an important role for the Spl polymorphism in the regulation of fracture risk; however, potential heterogeneity across ethnic groups, age groups, and skeletal sites may be important to clarify in future studies. Very large studies or meta-analyses are required to document subtle genetic differences in fracture risk.	Cohort 3641 subjects from 13 eligible studies										
119419	Y	spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis	OTHER	OTH	Osteochondrodysplasias|Osteoarthritis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Bleasel JF et al. 1995	7738948				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			The Journal of rheumatology. 1995 Feb;22(2):255-61	Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis.		120150	1352	1	1995												
119420	Y	osteoporosis	METABOLIC	MET	Osteoporosis|Fractures, Bone|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Moskalenko MV et al. 2002	12575457				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Russia	KGB	1277	Hs.172928			Genetika. 2002 Dec;38(12):1699-703	Analysis of association of Col1a1 gene alleles with the development of osteoporosis trans Analiz assotsiatsii allelei gena Col1a1 s razvitiem osteoporoza.		120150	1353	1	2002	Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.	Control individuals from northwestern Russia;Case:64/15/98 patients with severe osteoporosis complicated by fractures (n=64), children with idiopathic osteoporosis (n=15) and women with postmenopausal osteoporosis developed at the background of estadiol-d										
119415	Y	bone characteristics	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		van der Sluis IM et al. 2002	12232678				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	caucasian		KGB	1277	Hs.172928			Calcified tissue international. 2002 Nov;71(5):393-9	Collagen Ialpha1 polymorphism is associated with bone characteristics in Caucasian children and young adults.		120150	1348	1	2002	In conclusion, the COLIA1 polymorphism in children and young adults is associated with several bone characteristics. However, at least a part of the COLIA1 effect on bone mass may be related to differences in frame size.	Cohort 148 Caucasian children and young adults										
119416	Y	bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Sainz J et al. 1999	10084560				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			The Journal of clinical endocrinology and metabolism. 1999 Mar;84(3):853-5	Association of collagen type 1 alpha1 gene polymorphism with bone density in early childhood.		120150	1349	1	1999												
119417	Y	osteoporosis	METABOLIC	MET	Osteoporosis|Spinal Fractures	17	17q21.3-q22.1	COL1A1	45616455	45633999		Grant SF et al. 1996	8841196				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		Great Britain	KGB	1277	Hs.172928			Nature genetics. 1996 Oct;14(2):203-5	Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene.		120150	1350	1	1996												
119412	N	bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999	n	Tao C et al. 1999	10566692				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			KGB	1277	Hs.172928			The Journal of clinical endocrinology and metabolism. 1999 Nov;84(11):4293-4	No association was found between collagen alphaI type 1 gene and bone density in prepubertal children.		120150	1345	1	1999												
119413	Y	osteoporosis	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Roux C et al. 1998	9433891				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2		France	KGB	1277	Hs.172928			Arthritis and rheumatism. 1998 Jan;41(1):187-8	Association of a polymorphism in the collagen I alpha1 gene with osteoporosis in French women.		120150	1346	1	1998												
119414	Y	osteoporosis	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Lambrinoudaki I et al. 2001	11508783			intron	Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese	China	KGB	1277	Hs.172928			Journal of endocrinological investigation. 2001 Jul-Aug;24(7):499-502	Absence of high-risk s allele associated with osteoporosis at the intronic SP1 binding-site of collagen Ialpha1 gene in Southern Chinese.		120150	1347	1	2001	In conclusion, the "s" allele, associated with low BMD and increased fracture risk in Caucasians, is non-existent or very rare in the Southern Chinese population. The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations.	Cohort 181 women, aged 51.1+/-8.8 yr										
119409	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	10	10q24.3	COL17A1	105781035	105835628	0.008	Suzuki A 2004	15081423				Collagen, type XVII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000494.2	Japanese	Japan	KGB	1308	Hs.117938			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		113811	1391	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119410	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	10	10q24.3	COL17A1	105781035	105835628		Suzuki, A.  et al. 2004	15081423				Collagen, type XVII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000494.2	Japanese	Japan	CDC GDPinfo	1308	Hs.117938			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		113811	9437	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
119406		disc degeneration	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	6	6p21.3	COL11A2	33238446	33268223		Solovieva, S.  et al. 2005	16133074				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDPinfo	1302	Hs.390171			European spine journal. 2005	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.		601868	9467	2	2005												
119407		ossification of spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6p21.3	COL11A2	33238446	33268223		Maeda, S.  et al. 2001	11289713				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDPinfo	1302	Hs.390171			Journal of human genetics. 2001 ;46(1):4-Jan	Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.		601868	15850	2	2001	OPLL is predominantly observed in males. with a	Case ossification of the posterior longitudinal ligament of the spine (OPLL) cases:Japan;Control non-ossification of the posterior longitudinal ligament of the spine (OPLL) controls:Japan										
119408		osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6p21.3	COL11A2	33238446	33268223		Jakkula, E.  et al. 2005	15922184				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDPinfo	1302	Hs.390171			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		601868	20807	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
119403	Y	osteochondrodysplasias	OTHER	OTH	Osteochondrodysplasias|Osteoarthritis|Syndrome	6	6p21.3	COL11A2	33238446	33268223		Vikkula M et al. 1995	7859284				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1		Netherlands	KGB	1302	Hs.390171			Cell. 1995 Feb;80(3):431-7	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.		601868	1389	1	1995	The results suggest that mutations in collagen XI genes are associated with a spectrum of abnormalities in human skeletal development and support the conclusion of others, based on studies of murine chondrodysplasia, that collagen XI is essential for skeletal morphogenesis.											
119404	Y	ossification of the posterior longitudinal ligament of the spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6p21.3	COL11A2	33238446	33268223		Maeda S et al. 2001	11289713				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			KGB	1302	Hs.390171			Journal of human genetics. 2001 ;46(1):4-Jan	Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.		601868	1390	1	2001	OPLL is predominantly observed in males. with a	Case ossification of the posterior longitudinal ligament of the spine (OPLL) cases:Japan;Control non-ossification of the posterior longitudinal ligament of the spine (OPLL) controls:Japan										
119405		ossification of spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament	6	6p21.3	COL11A2	33238446	33268223		Maeda, S.  et al. 2001	11341341				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDPinfo	1302	Hs.390171			Journal of bone and mineral research. 2001 May;16(5):948-57	Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine.		601868	9436	2	2001	In the present study, a strong allelic association with non-OPLL (p = 0.0003) was observed with an intron 6 polymorphism [intron 6 (-4A)], in which the intron 6 (-4A) allele is more frequently observed in non-OPLL subjects than in OPLL patients.	Case ossification of the posterior longitudinal ligament:patients;Control non-ossification of the posterior longitudinal ligament subjects										
119399		schizophrenia; cocaine dependence	PSYCH	PSY	Cocaine-Related Disorders|Schizophrenia	6	6q14-q15	CNR1	88906303	88932281			16314880				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			The pharmacogenomics journal. 2005	(AAT)n repeat in the cannabinoid receptor gene (CNR1): association with cocaine addiction in anAfrican-Caribbean population		114610	15844	2	2005												
119401	Y	body mass	METABOLIC	MET		9	9p13	CNTFR	34541430	34579722		Roth, S. M.  et al. 2003	12807897	C174T			Ciliary neurotrophic factor receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147164.1			CDC GDPinfo	1271	Hs.129966			Journal of applied physiology (Bethesda, Md :  1985). 2003 Oct;95(4):1425-30	C174T polymorphism in the CNTF receptor gene is associated with fat-free mass in men and women.		118946	9435	2	2003	There were no significant sex by genotype interactions. The results indicate that the C174T polymorphism in exon 9 of CNTFR is significantly associated with FFM in men and women, with concomitant differences in muscular strength.	Cohort 465 men and women (20-90 yr.) from the Baltimore Longitudinal Study of Aging 										
119402		osteoarthritis	METABOLIC	MET	Osteoarthritis	1	1p21	COL11A1	103114610	103346640		Jakkula, E.  et al. 2005	15922184				Collagen, type XI, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001854.3			CDC GDPinfo	1301	Hs.523446			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		120280	15873	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
119395	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia|Schizophrenia, Disorganized|Schizophrenia, Paranoid	6	6q14-q15	CNR1	88906303	88932281		Ujike, H.  et al. 2002	12082570				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		Japan	CDC GDPinfo	1268	Hs.75110			Molecular psychiatry. 2002 ;7(5):515-8	CNR1, central cannabinoid receptor gene, associated with susceptibility to hebephrenic schizophrenia.		114610	15840	2	2002	The present findings indicated that certain alleles or genotypes of the CNR1 gene may confer a susceptibility of schizophrenia, especially of the hebephrenic type.	Case:schizophrenics:Japan;Control age-matched controls										
119396	N	alcoholism	CHEMDEPENDENCY	CHEM	Seizures|Delirium|Alcoholism|Genetic Predisposition to Disease	6	6q14-q15	CNR1	88906303	88932281		Preuss, U. W.  et al. 2003	14714115				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			European archives of psychiatry and clinical neuroscience. 2003 Dec;253(6):275-80	Alcoholism-related phenotypes and genetic variants of the CB1 receptor		114610	15841	2	2003	 This study failed to confirm an earlier report of a potential role of a CNR1 polymorphism in the pathogenesis of delirium tremens.	Case:196 alcoholic subjects;Control:210 non-alcoholic controls										
119398	Y	osteoporosis	METABOLIC	MET	Osteoporosis	6	6q14-q15	CNR1	88906303	88932281		Karsak, M.  et al. 2005	16204352				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			Human molecular genetics. 2005 Nov;14(22):3389-96	Cannabinoid receptor type 2 gene is associated with human osteoporosis.		114610	15843	2	2005												
119392	N	response to cannabis	UNKNOWN	UNK	Marijuana Abuse	6	6q14-q15	CNR1	88906303	88932281		Hoehe, M. R.  et al. 2000	11324942				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			Psychiatric genetics. 2000 Dec;10(4):173-7	Comparative sequencing of the human CB1 cannabinoid receptor gene coding exon: no structural mutationsin individuals exhibiting extreme responses to cannabis.		114610	15837	2	2000	No evidence for structural mutations was obtained, which might provide some insight into the molecular basis of individually different responsiveness to cannabinoids. Comparison of CB1 cannabinoid receptor amino acid sequences between species substantiated evidence that the protein sequence is relatively well conserved.	Cohort group showing acute psychotic symptoms after cannabis intake Cohort group that did not develop any psychopathology after long-term heavy cannabis abuse 										
119393	N	mood disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Affective Disorders, Psychotic	6	6q14-q15	CNR1	88906303	88932281		Tsai, S. J.  et al. 2001	11353438				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		Taiwan	CDC GDPinfo	1268	Hs.75110			American journal of medical genetics. 2001 Apr;105(3):219-21	Association study between cannabinoid receptor gene (CNR1) and pathogenesis and psychotic symptoms of mood disorders.		114610	15838	2	2001	The results showed that the triplet repeat polymorphism in the promoter region of the CNR1 gene was not likely to be involved in the pathogenesis or in the psychotic symptoms of mood disorders.	Case:154 mood disorder patients;Control:165 normal controls										
119394		schizophrenia	PSYCH	PSY	Schizophrenia	6	6q14-q15	CNR1	88906303	88932281		Leroy, S.  et al. 2001	11803524				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			American journal of medical genetics. 2001 Dec;105(8):749-52	Schizophrenia and the cannabinoid receptor type 1 (CB1): association study using a single-basepolymorphism in coding exon 1.		114610	15839	2	2001	These results are the first report of an significant association between CB1 receptor and a subtype of schizophrenia. Studies are needed to confirm and further explore the precise role of the cannabinoid system in schizophrenia.	Case:102 patients with schizophrenia;Control:62 ethnic- and gender-matched controls										
119389		schizophrenia	PSYCH	PSY	Schizophrenia	6	6q14-q15	CNR1	88906303	88932281		Leroy S et al. 2001	11803524				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			KGB	1268	Hs.75110			American journal of medical genetics. 2001 Dec;105(8):749-52	Schizophrenia and the cannabinoid receptor type 1 (CB1): association study using a single-base polymorphism in coding exon 1.		114610	1340	1	2001	These results are the first report of an significant association between CB1 receptor and a subtype of schizophrenia. Studies are needed to confirm and further explore the precise role of the cannabinoid system in schizophrenia.	Case:102 patients with schizophrenia;Control:62 ethnic- and gender-matched controls										
119390	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcohol Withdrawal Delirium|Alcoholism	6	6q14-q15	CNR1	88906303	88932281		Schmidt, L. G.  et al. 2002	11841893				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			Drug and alcohol dependence. 2002 Feb;65(3):221-4	Association of a CB1 cannabinoid receptor gene (CNR1) polymorphism with severe alcohol dependence.		114610	9433	2	2002	This finding suggests that the homozygous genotype CNR1 1359A/A confers vulnerability to alcohol withdrawal delirium.	Case:121 severely affected Caucasian alcoholics;Control:36 most likely non-alcoholic controls.										
119391		depression in Parkinson's disease	PSYCH	PSY	Parkinson Disease|Depressive Disorder	6	6q14-q15	CNR1	88906303	88932281		Barrero, F. J.  et al. 2005	15668727				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			The pharmacogenomics journal. 2005 ;5(2):135-41	Depression in Parkinson's disease is related to a genetic polymorphism of the cannabinoid receptor gene (CNR1).		114610	9434	2	2005	Since the alleles with long expansions may have functional impact in cannabinoid neurotransmission, our data suggest that the pharmacological manipulation of cannabinoid neurotransmission could open a new therapeutic approach for the treatment of depression in PD and possibly in other conditions.	Control:41:controls;Case:48 Parkinson's disease patients										
119385		iv drug use	OTHER	OTH	Substance-Related Disorders|Alcoholism|Heroin Dependence|Substance Abuse, Intravenous|Disease Susceptibility	6	6q14-q15	CNR1	88906303	88932281		Comings DE et al. 1997	9106242				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			KGB	1268	Hs.75110			Molecular psychiatry. 1997 Mar;2(2):161-8	Cannabinoid receptor gene (CNR1): association with i.v. drug use.		114610	1336	1	1997												
119386	N	mood disorders	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Affective Disorders, Psychotic	6	6q14-q15	CNR1	88906303	88932281		Tsai SJ et al. 2001	11353438				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		Taiwan	KGB	1268	Hs.75110	psychotic symptoms		American journal of medical genetics. 2001 Apr;105(3):219-21	Association study between cannabinoid receptor gene (CNR1) and pathogenesis and psychotic symptoms of mood disorders.		114610	1337	1	2001	The results showed that the triplet repeat polymorphism in the promoter region of the CNR1 gene was not likely to be involved in the pathogenesis or in the psychotic symptoms of mood disorders.	Case:154 mood disorder patients;Control:165 normal controls										
119387		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q14-q15	CNR1	88906303	88932281		Covault J et al. 2001	11526463				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			KGB	1268	Hs.75110			Molecular psychiatry. 2001 Sep;6(5):501-2	Association study of cannabinoid receptor gene (CNR1) alleles and drug dependence.		114610	1338	1	2001												
119388		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q14-q15	CNR1	88906303	88932281		Tsai SJ et al. 2000	11204352				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		China	KGB	1268	Hs.75110			Psychiatric genetics. 2000 Sep;10(3):149-51	Association study of a cannabinoid receptor gene (CNR1) polymorphism and schizophrenia.		114610	1339	1	2000												
119381	Y	Schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia|Schizophrenia, Disorganized|Schizophrenia, Paranoid	6	6q14-q15	CNR1	88906303	88932281	P=0.0028	Ujike H 2002	12082570	1359G/A at codon 453 and AAT			Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	Japanese	Japan	KGB	1268	Hs.75110			Molecular psychiatry. 2002 ;7(5):515-8	CNR1, central cannabinoid receptor gene, associated with susceptibility to hebephrenic schizophrenia.		114610	1332	1	2002	The present findings indicated that certain alleles or genotypes of the CNR1 gene may confer a susceptibility of schizophrenia, especially of the hebephrenic type.	Case:schizophrenics:Japan;Control age-matched controls										
119383	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Seizures|Alcohol Withdrawal Delirium|Alcoholism	6	6q14-q15	CNR1	88906303	88932281		Schmidt LG et al. 2002	11841893				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			KGB	1268	Hs.75110			Drug and alcohol dependence. 2002 Feb;65(3):221-4	Association of a CB1 cannabinoid receptor gene (CNR1) polymorphism with severe alcohol dependence.		114610	1334	1	2002	This finding suggests that the homozygous genotype CNR1 1359A/A confers vulnerability to alcohol withdrawal delirium.	Case:121 severely affected Caucasian alcoholics;Control:36 most likely non-alcoholic controls.										
119384	Y	P300 event-related potential	OTHER	OTH	Substance-Related Disorders|Alcoholism|Marijuana Abuse	6	6q14-q15	CNR1	88906303	88932281		Johnson JP et al. 1997	9106243				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			KGB	1268	Hs.75110			Molecular psychiatry. 1997 Mar;2(2):169-71	Association between the cannabinoid receptor gene (CNR1) and the P300 event-related potential.		114610	1335	1	1997												
119378		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	14	14q11.2	CMA1	24044551	24047311		Hashizume, K.  et al. 2005	15914614				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Japanese	Japan	CDC GDPinfo	1215	Hs.135626			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		118938	26812	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
119379		nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	18	18q22.3	CNDP1	70352671	70403241		Janssen, B.  et al. 2005	16046297				Carnosine dipeptidase 1 (metallopeptidase M20 family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032649.5			CDC GDPinfo	84735	Hs.400613			Diabetes. 2005 Aug;54(8):2320-7	Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat ofthe carnosinase gene CNDP1.			15834	2	2005												
119380	Y	achromatopsia	DEVELOPMENTAL	DEV	Color Vision Defects|Dog Diseases	8	8q21-q22	CNGB3	87655276	87825017		Kohl, S.  et al. 2004	15657609				Cyclic nucleotide gated channel beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019098.2			CDC GDPinfo	54714	Hs.154433			European journal of human genetics. 2005 Mar;13(3):302-8	CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia		605080	15835	2	2004	In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.	Cohort 341 independent patients with achromatopsia 										
119375	Y	atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Ortlepp, J. rR.  et al. 2001	11696688				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Coronary artery disease. 2001 Sep;12(6):493-7	A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts		118938	24149	2	2001	 The CMA allele G is a genetic risk factor for atherosclerosis in venous coronary artery bypass grafts. Its importance has to be shown in further studies. Other polymorphisms of the renin-angiotensin-aldosterone system do not seem to play a role in bypass degeneration.	Cohort 101 patients who had follow-up coronary angiography due to symptoms 88 +/- 52 months after coronary artery bypass graft surgery 										
119376	N	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Nalogowska-Glo&sacute;nicka, K.  et al. 2000	11208365				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2		Poland	CDC GDPinfo	1215	Hs.135626			Medical science monitor. 2000 May-Jun;6(3):523-9	Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension		118938	25880	2	2000	 On the basis of the results of our study, we may suggest that AGTR1 gene A1166C polymorphism may predispose women to the development of PIH. It seems that ACE gene I/D and Pst1 RFLP polymorphism, AGT gene M235T polymorphism, and finally chymase gene CMA/B polymorphism do not play any significant role in the pathogenesis of PIH in Caucasian women.	Case:126 women suffering from PIH;Control:150 healthy pregnant women	pregnancy									
119377		atherosclerosis, coronary	CARDIOVASCULAR	CARD		14	14q11.2	CMA1	24044551	24047311		Ortlepp, J. R.  et al. 2002	12446192				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		118938	25881	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
119372	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	14	14q11.2	CMA1	24044551	24047311		He, H.  et al. 2005	15788353				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Annals of human biology. 2005 Jan-Feb;32(1):30-43	A study of the relationships between angiotensin- converting enzyme gene, chymase gene polymorphisms, pharmacological treatment with ACE inhibitor and regression of left ventricular hypertrophy in essential hypertension patients treated with benazepril.		118938	20803	2	2005	 Hypertension patients with the DD genotype are more likely to have regression of LVH when treated with benazepril than patients with other genotypes of ACE. No evidence was found to support an association between CMA genotype and regression of LVH in patients or to support the interaction between the two genes in regression of LVH.	Cohort 157 patients with hypertension 	benazapril									
119373	N	hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	14	14q11.2	CMA1	24044551	24047311		He, H.  et al. 2004	15555355				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Zhonghua liu xing bing xue za zhi. 2004 Sep;25(9):756-60	[Association between angiotensin converting enzyme gene, chymase gene and regression of left ventricular hypertrophy in patients treated with angiotensin converting enzyme inhibitors.]		118938	20804	2	2004	 Hypertensive patients with DD genotype were more likely to have regression of left ventricular hypertrophy when treated with ACE inhibitors than patients with other ACE genotypes. No evidence was found to support an association between CMA genotype and regression of LVH in those patients.	Cohort 157 patients with essential hypertension and left ventricular hypertrophy 										
119374		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	14	14q11.2	CMA1	24044551	24047311		Zychma, M. J.  et al. 2000	11096141				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1965-70	Angiotensinogen M235T and chymase gene CMA/B polymorphisms are not associated with nephropathy in type II diabetes.		118938	20805	2	2000	 Our study provided evidence against an association between angiotensinogen M235T or chymase gene CMA/B polymorphisms and the presence of incipient or overt nephropathy in Caucasian patients with type II diabetes.	Control:243 normoalbuminuric controls with long-duration diabetes were selected from a group of 941 type II diabetic patients with established renal status;Case:323/127 323 microalbuminuric and 127 overt proteinuric:cases										
119368	Y	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Disease Progression	14	14q11.2	CMA1	24044551	24047311		Sliwa-Strojek, K.  et al. 2000	11303326				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Pol Arch Med Wewn. 2000 Jul;104(1):363-9	[Polymorphism of the chymase gene and development of retinopathy in type 2 diabetic patients]		118938	9427	2	2000	We conclude that  CMA/B hCC chymase gene polymorphism is associated with the presence of diabetic retinopathy. Association is expressed by decreased frequency of GG genotype in female group without retinopathy.	Cohort 587 type 2 diabetic patients with diabetes duration longer than 10 years 										
119369	N	asthma; dermatitis and eczema	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Disease Susceptibility	14	14q11.2	CMA1	24044551	24047311		Iwanaga, T.  et al. 2004	15248847			promoter	Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Clinical and experimental allergy. 2004 Jul;34(7):1037-42	Polymorphism of the mast cell chymase gene (CMA1) promoter region: lack of association with asthmabut association with serum total immunoglobulin E levels in adult atopic dermatitis.		118938	9428	2	2004	 These data suggest that CMA1 promoter polymorphism does not contribute to asthma susceptibility or severity but may be involved in regulating IgE levels in patients with eczema.	Control:184 non-asthmatic adults;Case:341 asthmatic families										
119370	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Sharma, S.  et al. 2005	15924217				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2		India	CDC GDPinfo	1215	Hs.135626			Journal of human genetics. 2005 ;50(6):276-82	A novel (TG)n(GA)m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels.		118938	9430	2	2005	These results suggest that the CMA1 gene contributes to asthma susceptibility and may be involved in regulating IgE levels in atopic asthma.	Control:controls;Case asthma cases from two independent cohorts recruited from the Indian population										
119365	N	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311	n	Kawashima T et al. 1998	9748697				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Human heredity. 1998 Sep-Oct;48(5):271-4	No evidence for an association between a variant of the mast cell chymase gene and atopic dermatitis based on case-control and haplotype-relative-risk analyses.		118938	1284	1	1998												
119366	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Disease Progression	14	14q11.2	CMA1	24044551	24047311		Sliwa-Strojek K 2000	11303326				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			Y Wang	1215	Hs.135626	Complications		Pol Arch Med Wewn. 2000 Jul;104(1):363-9	Polymorphism of the chymase gene and development of retinopathy in type 2 diabetic patients , trans Polimorfizm genu chymazy a rozwoj retinopatii cukrzycowej u chorych na cukrzyce typu 2.		118938	1285	1	2000	We conclude that  CMA/B hCC chymase gene polymorphism is associated with the presence of diabetic retinopathy. Association is expressed by decreased frequency of GG genotype in female group without retinopathy.	Cohort 587 type 2 diabetic patients with diabetes duration longer than 10 years										
119367	N	diabetes, type 2	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	14	14q11.2	CMA1	24044551	24047311		Zychma MJ 2000	11096141				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Caucasian		Y Wang	1215	Hs.135626	Complications		Nephrology, dialysis, transplantation. 2000 Dec;15(12):1965-70	Angiotensinogen M235T and chymase gene CMA/B polymorphisms are not associated with nephropathy in type II diabetes.		118938	1286	1	2000	 Our study provided evidence against an association between angiotensinogen M235T or chymase gene CMA/B polymorphisms and the presence of incipient or overt nephropathy in Caucasian patients with type II diabetes.	Control:243 normoalbuminuric controls with long-duration diabetes were selected from a group of 941 type II diabetic patients with established renal status;Case:323/127 323 microalbuminuric and 127 overt proteinuric:cases										
119360	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311		Pascale E et al. 2001	11173969				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Italian	Italy	KGB	1215	Hs.135626			Human heredity. 2001 ;51(3):177-9	Absence of association between a variant of the mast cell chymase gene and atopic dermatitis in an Italian population.		118938	1279	1	2001												
119361	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	14	14q11.2	CMA1	24044551	24047311	n	Gardemann A et al. 2000	10917873	A(-1903)G			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Atherosclerosis. 2000 Jun;150(2):445-6	The chyrnase A(-1903)G gene polymorphism is not associated with the risk and extent of coronary heart disease.		118938	1280	1	2000												
119362	N	cardiovascular	CARDIOVASCULAR	CARD	Cardiomegaly|Myocardial Infarction	14	14q11.2	CMA1	24044551	24047311	n	Pfeufer A et al. 1998	9794357				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			The American journal of cardiology. 1998 Oct;82(8):979-81	Chymase gene locus is not associated with myocardial infarction and is not linked to heart size or blood pressure.		118938	1281	1	1998												
119355	Y	ARDS mortality	OTHER	OTH	Respiratory Distress Syndrome, Adult|Disease Progression|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311	<0.02	Marshall RP 2002	11893690	CMA/B G allele			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	112 ARDS (Caucasian)		KGB	1215	Hs.135626	mortality		Chest. 2002 Mar;121(3 Suppl):68S-69S			118938	1274	1	2002												
119356		Atopic dermatitis	IMMUNE	IMM	Asthma|Rhinitis|Eczema|Hypersensitivity, Immediate	14	14q11.2	CMA1	24044551	24047311		Mao XQ 1996	8774571	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Lancet. 1996 Aug;348(9027):581-3			118938	1275	1	1996												
119358	N	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311	n	Forrest 1999	10550754	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			The Journal of allergy and clinical immunology. 1999 Nov;104(5):1066-70			118938	1277	1	1999	 We have identified a clinically homogeneous cohort of patients with atopic eczema to identify genetic factors predisposing to the development of atopy. We postulate that there are certain loci that predispose to atopy in general and other loci that determine which of the atopic phenotypes is expressed.											
119359		HDL cholesterol	METABOLIC	MET		14	14q11.2	CMA1	24044551	24047311		Fukuda M et al. 2002	12047032				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Hypertension research. 2002 Mar;25(2):179-84	Association of a mast cell chymase gene variant with HDL cholesterol but not with blood pressure in the Ohasama study.		118938	1278	1	2002												
119350	N	Asthma	IMMUNE	IMM	Asthma	14	14q11.2	CMA1	24044551	24047311	n	Unoki M 2000	10830912	C-1777T			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Japanese	Japan	KCB	1215	Hs.135626			Human genetics. 2000 Apr;106(4):440-6			118938	1269	1	2000												
119351	N	Asthma	IMMUNE	IMM	Asthma	14	14q11.2	CMA1	24044551	24047311	n	Unoki M 2000	10830912	G-1903A			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Japanese	Japan	KCB	1215	Hs.135626			Human genetics. 2000 Apr;106(4):440-6			118938	1270	1	2000												
119352	N	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311	n	Kawashima T 1998	9748697	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Japanese		KGB	1215	Hs.135626			Human heredity. 1998 Sep-Oct;48(5):271-4			118938	1271	1	1998												
119353	N	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311	n	Pascale E 2001	11173969	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Italian	Italy	KGB	1215	Hs.135626			Human heredity. 2001 ;51(3):177-9			118938	1272	1	2001												
119346	Y	cholesterol; cholesterol, LDL; carotid atherosclerosis	METABOLIC	MET	Hypertension	8	8p21-p12	CLU	27510367	27528244		Miwa, Y.  et al. 2005	15883054				Clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001831.2	Japanese		CDC GDPinfo	1191	Hs.436657			Biochemical and biophysical research communications. 2005 Jun;331(4):1587-93	Insertion/deletion polymorphism in clusterin gene influences serum lipid levels and carotid intima-media thickness in hypertensive Japanese females.		185430	9423	2	2005	In conclusion, the clusterin gene polymorphism may contribute to the serum lipid levels and the progression of carotid atherosclerosis in hypertensive Japanese females.	Cohort 525 hypertensives no treated with lipid lowering agents 										
119347	Y	hypertension; preeclampsia	CARDIOVASCULAR	CARD	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	8	8p21-p12	CLU	27510367	27528244		Chen, M.  et al. 2005	15925890				Clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001831.2			CDC GDPinfo	1191	Hs.436657			Gynecologic and obstetric investigation. 2005 ;60(3):133-8	Association of apolipoprotein J gene 866C-->T polymorphism with preeclampsia and essential hypertension.		185430	9424	2	2005	The results suggested that the 866C-->T polymorphism might be associated with PE and EH. It is plausible that apo J may play a certain role in the predisposition to PE and EH.	Case preeclampsia and hypertension cases:Guizhou, China;Control:controls										
119348		Total IgE	IMMUNE	IMM	Asthma|Rhinitis|Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311		Mao XQ 1998	9463800	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2	Japanese		KGB	1215	Hs.135626			Human heredity. 1998 Jan-Feb;48(1):38-41			118938	1267	1	1998												
119343	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6pter-p21.1	CLPS	35870737	35873080		Lindner, I.  et al. 2005	16189801				Colipase, pancreatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001832.2		Germany	CDC GDPinfo	1208	Hs.1340			Molecular nutrition & food research. 2005 Oct;49(10):972-6	Putative association between a new polymorphism in exon 3 (Arg109Cys) of the pancreatic colipase gene and type 2 diabetes mellitus in two independent Caucasian study populations.		120105	9422	2	2005												
119344		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	19	19q13.2-q13.3	CLPTM1	50150477	50188439		Ichikawa, E.  et al. 2005	16247549				Cleft lip and palate associated transmembrane protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001294.1	Japanese		CDC GDPinfo	1209	Hs.444441			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		604783	18847	2	2005												
119345		cleft lip with cleft palate; cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	19	19q13.2-q13.3	CLPTM1	50150477	50188439		Turhani, D.  et al. 2005	16122939				Cleft lip and palate associated transmembrane protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001294.1			CDC GDPinfo	1209	Hs.444441			Journal of cranio-maxillo-facial surgery. 2005 Oct;33(5):301-6	Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.		604783	19208	2	2005	 These results suggest that a simultaneous occurrence of PVRL1 and CLPTM 1 gene mutations in cleft patients does not correlate with the type of cleft (left, right, bilateral) or the gender of the patients. If a combination of the intron change IVS7-10G/A, exon changes Gly331Gly, Ala88Ala and Pro309Pro of the CLMPT 1 gene and Glu441-Gly442 ins Glu mutation of the PVRL 1 gene could be a genetic factor for non-syndromic clefts of the primary and the secondary palates, it is important to investigate more patients and controls.											
119339	N	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache|Genetic Predisposition to Disease	4	4q12	CLOCK	55993416	56107754		Rainero, I.  et al. 2005	16232160	3092 T-->C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Cephalalgia. 2005 Nov;25(11):1078-81	Lack of association between the 3092 T-->C Clock gene polymorphism and cluster headache.		601851	9421	2	2005												
119340	Y	insomnia	OTHER	OTH	Sleep Initiation and Maintenance Disorders|Mood Disorders	4	4q12	CLOCK	55993416	56107754		Serretti, A.  et al. 2003	12898572				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):35-8	Genetic dissection of psychopathological symptoms:insomnia in mood disorders and CLOCK gene polymorphism.		601851	15829	2	2003	This preliminary observation leads to hypothesize a possible involvement of the CLOCK gene polymorphism in the sleep disregulations in MDD and BP.	Cohort 620 patients affected by major depressive disorder and bipolar disorder 										
119342		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	4	4q12	CLOCK	55993416	56107754		Serretti, A.  et al. 2004	15475734				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Pharmacogenetics. 2004 Sep;14(9):607-13	Pharmacogenetics of selective serotonin reuptake inhibitor response: a 6-month follow-up.		601851	19983	2	2004	 Some subjects showing remission after acute treatment relapsed within 6 months, despite undertaking a maintenance treatment; the causes could be heterogeneous, but CLOCK gene variants may influence the outcome.	Cohort 185 inpatients affected by recurrent major depression consecutively admitted to the Psychiatric Inpatient Unit of San Raffaele Hospital 1998n - 2003 	antidepressants									
119336	N	affective psychoses	PSYCH	PSY	Mood Disorders	4	4q12	CLOCK	55993416	56107754		Bailer, U.  et al. 2005	15572273	T3111C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			European neuropsychopharmacology. 2005 Jan;15(1):51-5	No association of clock gene T3111C polymorphism and affective disorders.		601851	9418	2	2005	Results suggest that there is no association between the T3111C SNP and affective disorders in general. Data of our sample replicate prior findings of Desan et al. [Am. J. Med. Genet. 12 (2000) 418]. Subsamples of patients with high numbers of affective episodes did show some deviations in genotypes (p=0.0585).	Case:102 affective disorder patients;Control:103 healthy controls										
119337	Y	sleep disorders	OTHER	OTH		4	4q12	CLOCK	55993416	56107754		Mishima, K.  et al. 2004	15578592	T3111C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2	Japanese		CDC GDPinfo	9575	Hs.436975			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):101-4	The 3111T/C polymorphism of hClock is associated with evening preference and delayed sleep timing in a Japanese population sample.		601851	9419	2	2004	The present findings in a Japanese population sample, which should have a relatively low risk of population stratification effects, suggest the significance of the association of the 3111C/C allele of hClock with evening preference.	Cohort 421 Japanese subjects 										
119338		5-flurouracil pharmacokinetics	PHARMACOGENOMIC	PHARM	Esophageal Neoplasms	4	4q12	CLOCK	55993416	56107754		Miki, I.  et al. 2005	15905809	T3111C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Therapeutic drug monitoring. 2005 Jun;27(3):369-74	Circadian variability of pharmacokinetics of 5-fluorouracil and CLOCK T3111C genetic polymorphism in patients with esophageal carcinoma.		601851	9420	2	2005	The CLOCK T3111C genotype did not have a significant impact on the variation of the plasma concentrations of 5-FU in this study population. Further studies are needed to clarify the mechanism of these phenomena and to identify an easy-to-assess marker of circadian rhythms for use in individualizing delivery of 5-FU.	Cohort 30 esophageal cancer patients treated with chemoradiotherapy 										
119333	N	circadian variability	OTHER	OTH		4	4q12	CLOCK	55993416	56107754		Robilliard, D. L.  et al. 2002	12464098	T3111C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Journal of sleep research. 2002 Dec;11(4):305-12	The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects.		601851	9415	2	2002	These results do not support Clock 3111C as a marker for diurnal preference, tau, or delayed sleep phase syndrome in humans.	Case:105/26/16 control subjects with defined diurnal preference (n=105), blind subjects with free-running circadian rhythms and characterized with regard to circadian period (n=26) and delayed sleep phase syndrome:patients (n=16);Control:484 individuals chosen from a larger population by Horne-Ostberg questionnaire analysis, from which three subgroups were selected (evening, intermediate and morning preference)										
119334		sleep disorders	OTHER	OTH	Sleep Disorders, Circadian Rhythm	4	4q12	CLOCK	55993416	56107754		Archer, S. N.  et al. 2003	12841365				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Sleep. 2003 Jun;26(4):413-5	A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference.		601851	9416	2	2003	 The length of the Per3 repeat region identifies a potential genetic marker for extreme diurnal preference.	Cohort subjects with defined diurnal preference as determined by the Horne-Ostberg questionnaire and patients with delayed sleep phase syndrome 										
119335	Y	bipolar disorder	PSYCH	PSY	Recurrence|Bipolar Disorder	4	4q12	CLOCK	55993416	56107754		Benedetti, F.  et al. 2003	14582141				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Nov;123(1):23-6	Influence of CLOCK gene polymorphism on circadian mood fluctuation and illness recurrence in bipolar depression.		601851	9417	2	2003	This preliminary observation leads to hypothesize a role for the CLOCK gene polymorphism in the regulation of long-term illness recurrence in bipolar disorder. Given the post-hoc nature of the finding, replication in independent samples is necessary to confirm it.	Cohort 101 patients affected by bipolar disorder type I 										
119330	N	sleep and circadian rhythmicity	OTHER	OTH		4	4q12	CLOCK	55993416	56107754	n	Robilliard DL et al. 2002	12464098				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			KGB	9575	Hs.436975			Journal of sleep research. 2002 Dec;11(4):305-12	The 3111 Clock gene polymorphism is not associated with sleep and circadian rhythmicity in phenotypically characterized human subjects.		601851	6638	1	2002	These results do not support Clock 3111C as a marker for diurnal preference, tau, or delayed sleep phase syndrome in humans.	Case:105/26/16 control subjects with defined diurnal preference (n=105), blind subjects with free-running circadian rhythms and characterized with regard to circadian period (n=26) and delayed sleep phase syndrome:patients (n=16);Control:484 individuals c										
119331	Y	diurnal preference	OTHER	OTH		4	4q12	CLOCK	55993416	56107754		Katzenberg D et al. 1998	9779516				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			KGB	9575	Hs.436975			Sleep. 1998 Sep;21(6):569-76	A CLOCK polymorphism associated with human diurnal preference.		601851	6639	1	1998												
119332	N	depression	PSYCH	PSY	Depressive Disorder	4	4q12	CLOCK	55993416	56107754		Zill, P.  et al. 2002	11927173			promoter	Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Neuropsychopharmacology. 2002 Apr;26(4):489-93	Identification of a naturally occurring polymorphism in the promoter region of the norepinephrine transporter and analysis in major depression.		601851	9414	2	2002	Our results suggest that the investigated polymorphisms are not major susceptibility factors in the etiology of major depression.	Case:100 patients with major depression;Control:100 healthy controls										
119326		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p36	CLCNKB	16221072	16256063		Kokubo, Y.  et al. 2005	15671602				Chloride channel Kb	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000085.1	Japanese	Japan	CDC GDPinfo	1188	Hs.352243			Circulation journal. 2005 Feb;69(2):138-42	Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.		602023	12076	2	2005	 The significance of the G(-930)A polymorphism of CYBA was confirmed in the present study with adequate statistical power, which strengthens the hypothesis that this polymorphism is important in the pathogenesis of hypertension and confers susceptibility.	Cohort 3,652 subjects recruited from the Suita study Japan 										
119327	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36	CLCNKB	16221072	16256063		Speirs, H. J.  et al. 2005	16003175				Chloride channel Kb	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000085.1			CDC GDPinfo	1188	Hs.352243			Journal of hypertension. 2005 Aug;23(8):1491-6	No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36.		602023	14423	2	2005	 Our data fail to support previous association findings for TNFRSF1B and CLCNKB at the chromosome 1p36 locus implicated in hypertension.											
119329		variant late infantile neuronal ceroid lipofuscinosis.	OTHER	OTH	Neuronal Ceroid-Lipofuscinosis	15	15q23	CLN6	66286383	66309079		Sharp JD 2003	12815591				Ceroid-lipofuscinosis, neuronal 6, late infantile, variant	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017882.1			KGB	54982	Hs.584921			Human mutation. 2003 Jul;22(1):35-42	Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.		606725	6775	1	2003												
119322	N	cholelithiasis; urinary calculus	METABOLIC	MET	Nephrocalcinosis|Kidney Calculi|Kidney Failure|Genetic Predisposition to Disease	X	Xp11.23-p11.22	CLCN5	49573964	49750632		Rebelo, M. A.  et al. 2005	15692680				Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000084.1			CDC GDPinfo	1184	Hs.49114			An Acad Bras Cienc. 2005 Mar;77(1):95-101	Screening for CLCN5 mutation in renal calcium stone formers patients.		300008	15827	2	2005	CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.	Cohort 35 patients (23 males and 12 females), age 35 +/-; 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis 										
119323	Y	bone density	METABOLIC	MET		16	16p13	CLCN7	1435344	1465013		Pettersson, U.  et al. 2005	16234969				Chloride channel 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001287.3			CDC GDPinfo	1186	Hs.459649			Journal of bone and mineral research. 2005 Nov;20(11):1960-7	Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women.		602727	9411	2	2005	 Our study indicates that the V418M polymorphism of CLCN7 contributes to the genetic regulation of femoral neck BMD in women and adds to accumulating evidence that indicates that subtle polymorphic variation in genes that cause monogenic bone diseases also contribute to regulation of BMD in normal subjects.											
119325		osteoporosis	METABOLIC	MET	Osteopetrosis	16	16p13	CLCN7	1435344	1465013		Frattini, A.  et al. 2003	14584882				Chloride channel 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001287.3			CDC GDPinfo	1186	Hs.459649			Journal of bone and mineral research. 2003 Oct;18(10):1740-7	Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.		602727	15828	2	2003	 In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis. The remaining five cases were heterozygous for a ClCN7 mutation, including two brothers from a large family with a history of ADO-II in which the presence of a second ClCN7 mutation was formally excluded. Despite an early and severe clinical presentation, these five patients all reached adulthood, suggesting that the degree of dominant interference with chloride channel function can vary widely. Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms. These findings have prognostic implications, might complicate prenatal diagnosis of human osteopetroses, and could be relevant to the management of these patients.	Cohort 94 patients in which a diagnosis of severe osteopetrosis was made within the first 2 years of age 										
119319	N	cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases	3	3q27-q28	CLCN2	185547087	185561961		Blaisdell, C. J.  et al. 2004	15507145				Chloride channel 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004366.2			CDC GDPinfo	1181	Hs.436847			BMC medical genetics [electronic resource]. 2004 Oct;5:26	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.		600570	9410	2	2004	 CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.	Cohort adult cystic fibrosis dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%) 										
119320	Y	hypercalciuric nephrocalcinosis	OTHER	OTH	Kidney Diseases|Nephrocalcinosis|Renal Tubular Transport, Inborn Errors|Proteinuria	X	Xp11.23-p11.22	CLCN5	49573964	49750632		Lloyd SE et al. 1997	9062355				Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000084.1	Japanese	Japan	KGB	1184	Hs.49114			The Journal of clinical investigation. 1997 Mar;99(5):967-74	Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).		300008	1264	1	1997												
119321		Dent's disease	OTHER	OTH	Kidney Diseases|Proteinuria	X	Xp11.23-p11.22	CLCN5	49573964	49750632		Claverie-Martin F 2003	14569459				Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000084.1	Spanish		KGB	1184	Hs.49114			Human genetics. 2003 Nov;113(6):480-5	De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease.		300008	1265	1	2003												
119315		endurance performance	NORMALVARIATION	NV		19	19q13.2-q13.3	CKM	50501510	50517974		Lucia, A.  et al. 2005	16037885				Creatine kinase, muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001824.2			CDC GDPinfo	1158	Hs.334347			International journal of sports medicine. 2005 Jul-Aug;26(6):442-7	Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races?		123310	20802	2	2005	We conclude that  in top-level professional cyclists capable of completing a classic 3-wk tour race, the frequency distribution of the D allele and the DD genotype seems to be higher than in other endurance athletes such as elite runners (in whom the I allele is especially frequent).											
119316	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p31-p22	CLCA1	86706982	86738562		Kamada, F.  et al. 2004	15318163				Chloride channel, calcium activated, family member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001285.1			CDC GDPinfo	1179	Hs.194659			Genes and immunity. 2004 Nov;5(7):540-7	Association of the hCLCA1 gene with childhood and adult asthma.		603906	15826	2	2004	Our data suggested that variation of the hCLCA1 gene affects patients' susceptibility for asthma.	Case:384/480 child (n=384) and adult (n=480) patients with:asthma;Control:672:controls										
119317		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p31-p22	CLCA2	86662412	86694828		Li X 2004	14973555				Chloride channel, calcium activated, family member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006536.4			KGB	9635	Hs.241551			Oncogene. 2004 Feb;23(7):1474-80	CLCA2 tumour suppressor gene in 1p31 is epigenetically regulated in breast cancer.		604003	6645	1	2004												
119311		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	6	6q23.3	CITED2	139735089	139737478		Sperling, S.  et al. 2005	16287139				Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006079.3	caucasian		CDC GDPinfo	10370	Hs.82071	septal defect		Human mutation. 2005 Dec;26(6):575-82	Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.		602937	15824	2	2005		392 cases, 192 controls		HIF1A		TFAP2						
119312		macular degeneration, age-related	VISION	VIS	Macular Degeneration	14	14q32	CKB	103055748	103058923			16384981				Creatine kinase, brain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001823.3			CDC GDPinfo	1152	Hs.173724			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		123280	24148	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
119313		heart anomalies, congenital	CARDIOVASCULAR	CARD		19	19q13.2-q13.3	CKM	50501510	50517974		Zhou, D. Q.  et al. 2005	16120572				Creatine kinase, muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001824.2	Chinese		CDC GDPinfo	1158	Hs.334347			Yi chuan. 2005 Jul;27(4):535-8	[An A/G polymorphism in muscle-specific creatine kinase gene in Han population in Northern China]		123310	9408	2	2005												
119308	Y	amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	1	1q44	NLRP3	245646097	245679029		Aganna, E.  et al. 2004	15071491				Cold autoinflammatory syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004895.3			CDC GDPinfo	114548	Hs.159483			Genes and immunity. 2004 Jun;5(4):289-93	Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis		606416	19921	2	2004	Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.	Control:130 healthy controls;Case:61/31 juvenile idiopathic arthritis patients with (n=61) and without (n=31) amyloidosis;Case:67/34 rheumatoid arthritis patients with amyloidosis (n=67) and without amyloidosis (n=34)										
119309		Familial Mediterranean Fever; hyper-IgD syndrome	IMMUNE	IMM	Autoimmune Diseases|Familial Mediterranean Fever|Syndrome|Inflammation	1	1q44	NLRP3	245646097	245679029		Simon, A.  et al. 2005	16234278				Cold autoinflammatory syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004895.3			CDC GDPinfo	114548	Hs.159483			Rheumatology (Oxford, England). 2005	Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.		606416	19925	2	2005	 Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.											
119310	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	18	18p11.21	CIDEA	12244369	12267592		Dahlman, I.  et al. 2005	16186410	V115F			Cell death-inducing DFFA-like effector a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001279.2	Swedish	Sweden	CDC GDPinfo	1149	Hs.249129			Diabetes. 2005 Oct;54(10):3032-4	The CIDEA gene V115F polymorphism is associated with obesity in Swedish subjects.		604440	9404	2	2005												
119305	N	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	17	17p13-p12	CHRNE	4741839	4747148		Bonifati, D. M.  et al. 2004	14981744				Cholinergic receptor, nicotinic, epsilon polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000080.2		India|Great Britain	CDC GDPinfo	1145	Hs.579243			Muscle & nerve. 2004 Mar;29(3):436-9	Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.		100725	9403	2	2004	These data provide no evidence that heteroallelic mutations or polymorphisms in the AChR epsilon subunit are involved in the development of autoimmune early-onset MG but raise issues for future studies.	Cohort 167 patients with early-onset myasthenia gravis 										
119306	Y	macular corneal dystrophy	VISION	VIS	Corneal Dystrophies, Hereditary	16	16q22	CHST6	74064522	74086427		Warren JF 2003	14609920				Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021615.4		India	KGB	4166	Hs.487510			Archives of ophthalmology. 2003 Nov;121(11):1608-12	Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.		605294	4481	1	2003	 A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I MCD in a cohort of patients in southern India. CLINICAL RELEVANCE: An improved understanding of the genetic basis of MCD allows for earlier, more accurate diagnosis of affected individuals, and may provide the foundation for the development of novel disease treatments.											
119307	Y	macular corneal dystrophy.	VISION	VIS	Corneal Dystrophies, Hereditary	16	16q22	CHST6	74064522	74086427		Aldave AJ 2004	15013869				Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021615.4	American	United States	KGB	4166	Hs.487510			American journal of ophthalmology. 2004 Mar;137(3):465-73	Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.		605294	4482	1	2004	 A variety of previously unreported mutations in the coding region of the CHST6 gene are associated with type I macular corneal dystrophy in a cohort of patients from the United States.											
119302		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q21.3	CHRNB2	152806880	152818977		Kawamata, J.  et al. 2002	12214130				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDPinfo	1141	Hs.591493			J Alzheimers Dis    2002    4    71-6	Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.		118507	25878	2	2002	These findings suggested that genetic polymorphisms of the neuronal nAChR genes might be related to the pathogenesis of sporadic AD.	Case Alzheimer's disease cases;Control:controls										
119303		smoking behavior	CHEMDEPENDENCY	CHEM		8	8p11.2	CHRNB3	42671718	42711366			16314871				Cholinergic receptor, nicotinic, beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000749.3			CDC GDPinfo	1142	Hs.96094			Molecular psychiatry. 2005	Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes		118508	25879	2	2005												
119304		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Genetic Predisposition to Disease	2	2q33-q34	CHRND	233099165	233108449		Giraud, M.  et al. 2004	14735155				Cholinergic receptor, nicotinic, delta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000751.1			CDC GDPinfo	1144	Hs.156289			Genes and immunity. 2004 Jan;5(1):80-3	Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis		100720	15823	2	2004	The data warrant a detailed investigation of CHRND polymorphism in MG patients.	Control:168 healthy controls;Case:350/84 unrelated nonthymoma (n=350) and thymoma (n=84) myasthenia gravis patients										
119299	N	seizures, febrile	NEUROLOGICAL	NEUR	Seizures, Febrile|Genetic Predisposition to Disease	1	1q21.3	CHRNB2	152806880	152818977		Peng, C. T.  et al. 2004	15033200				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1		Taiwan	CDC GDPinfo	1141	Hs.591493			Pediatric neurology. 2004 Mar;30(3):186-9	Association of the nicotinic receptor beta 2 subunit and febrile seizures		118507	15821	2	2004	The results indicated that genotypes and allelic frequencies in both groups were not significantly different. These data suggest that nicotinic acetylcholine receptor beta 2 subunit polymorphisms are not a useful marker for prediction of the susceptibility to febrile seizures.	Case:104 children with febrile seizures;Control:83 control patients										
119300		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	1	1q21.3	CHRNB2	152806880	152818977		Lerman, C.  et al. 2003	12627466				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDPinfo	1141	Hs.591493			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		118507	19977	2	2003	Review article											
119301		smoking behavior	CHEMDEPENDENCY	CHEM		1	1q21.3	CHRNB2	152806880	152818977			16314871				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDPinfo	1141	Hs.591493			Molecular psychiatry. 2005	Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes		118507	24147	2	2005												
119296	N	smoking	OTHER	OTH	Tobacco Use Disorder	1	1q21.3	CHRNB2	152806880	152818977	n	Silverman MA et al. 2000	11054772				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			KGB	1141	Hs.591493	smoking		American journal of medical genetics. 2000 Oct;96(5):646-53	Haplotypes of four novel single nucleotide polymorphisms in the nicotinic acetylcholine receptor beta2-subunit (CHRNB2) gene show no association with smoking initiation or nicotine dependence.		118507	1262	1	2000	None of the four polymorphisms we tested, nor their estimated haplotypes, were associated with smoking initiation or progression to nicotine dependence.	Control:317:nonsmokers;Case:317/238 smokers with high nicotine dependence (n=317) and low levels of nicotine dependence (n=238)										
119297	N	smoking behavior; nicotine dependence	OTHER	OTH	Tobacco Use Disorder	1	1q21.3	CHRNB2	152806880	152818977		Silverman, M. A.  et al. 2000	11054772				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDPinfo	1141	Hs.591493			American journal of medical genetics. 2000 Oct;96(5):646-53	Haplotypes of four novel single nucleotide polymorphisms in the nicotinic acetylcholine receptor beta2-subunit (CHRNB2) gene show no association with smoking initiation or nicotine dependence.		118507	9401	2	2000	None of the four polymorphisms we tested, nor their estimated haplotypes, were associated with smoking initiation or progression to nicotine dependence.	Control:317:nonsmokers;Case:317/238 smokers with high nicotine dependence (n=317) and low levels of nicotine dependence (n=238)										
119298	N	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	1	1q21.3	CHRNB2	152806880	152818977		Lueders, K. K.  et al. 2002	11906688				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDPinfo	1141	Hs.591493			Nicotine & tobacco research. 2002 Feb;4(1):115-25	Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2).		118507	9402	2	2002	No significant associations of the individual markers or their haplotypes to smoking behavior or level of nicotine dependence were found.	Cohort 743 individuals for whom information on smoking history and lifelong nicotine dependence was available 										
119293	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Bobb, A. J.  et al. 2005	15717291				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDPinfo	1137	Hs.10734			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		118504	20799	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
119294		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Kawamata, J.  et al. 2002	12214130				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDPinfo	1137	Hs.10734			J Alzheimers Dis    2002    4    71-6	Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.		118504	20800	2	2002	These findings suggested that genetic polymorphisms of the neuronal nAChR genes might be related to the pathogenesis of sporadic AD.	Case Alzheimer's disease cases;Control:controls										
119295		smoking behavior	CHEMDEPENDENCY	CHEM		4	4p14	CHRNA9	40032225	40051730			16314871				Cholinergic receptor, nicotinic, alpha polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017581.2			CDC GDPinfo	55584	Hs.272278			Molecular psychiatry. 2005	Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes		605116	20801	2	2005												
119290	Y	seizures, febrile	OTHER	OTH	Seizures, Febrile|Genetic Predisposition to Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Chou, I. C.  et al. 2003	12887442				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3		Taiwan	CDC GDPinfo	1137	Hs.10734			Epilepsia. 2003 Aug;44(8):1089-93	Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.		118504	9398	2	2003	 This study demonstrated an association between the CHRNA4 gene and FCs. Individuals with the T allele had a higher incidence of FCs. These data suggest that the CHRNA4 gene or a closely linked gene might be one of the susceptibility factors for FCs.	Case:102 children with febrile seizures;Control:80 nromal controls										
119291		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Kim, S. A.  et al. 2004	15902904				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3	Korean		CDC GDPinfo	1137	Hs.10734			Alcohol (Fayetteville, NY). 2004 Oct-Nov;34(3-Feb):115-20	Association of polymorphisms in nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4), mu-opioid receptor gene (OPRM1), and ethanol-metabolizing enzyme genes with alcoholism in Korean patients.		118504	13028	2	2004	The polymorphisms of ADH2, ALDH2, and CYP2E1 were significantly different in Korean patients with alcoholism and Korean control subjects without alcoholism, but ADH3 and OPRM1 did not differ between the two groups.	Case:127 Korean patients with alcoholism;Control:185 subjects without alcoholism										
119292		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Mz, H.  et al. 2005	16205844				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3		Kuwait	CDC GDPinfo	1137	Hs.10734			Journal of biomedical science. 2005 Oct;12(5):815-8	Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.		118504	19318	2	2005												
119287	Y	febrile convulsions	OTHER	OTH	Seizures, Febrile|Genetic Predisposition to Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Chou IC 2003	12887442				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3		Taiwan	KGB	1137	Hs.10734			Epilepsia. 2003 Aug;44(8):1089-93	Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.		118504	1259	1	2003	 This study demonstrated an association between the CHRNA4 gene and FCs. Individuals with the T allele had a higher incidence of FCs. These data suggest that the CHRNA4 gene or a closely linked gene might be one of the susceptibility factors for FCs.	Case:102 children with febrile seizures;Control:80 nromal controls										
119288		nocturnal frontal lobe epilepsy	OTHER	OTH	Epilepsy, Frontal Lobe|Sleep Disorders	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Leniger T 2003	12823585				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			KGB	1137	Hs.10734			Epilepsia. 2003 Jul;44(7):981-5	A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.		118504	1260	1	2003	 nAChR mutations found in familial epilepsy are not always associated with an autosomal dominant mode of inheritance. alpha4-T265I is the first nAChR allele showing a markedly reduced penetrance consistent with a major gene effect. The low penetrance of the mutation is probably caused by unknown genetic or environmental factors or both.											
119289	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Kent, L.  et al. 2001	11409698				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDPinfo	1137	Hs.10734			Psychiatric genetics. 2001 Mar;11(1):37-40	Nicotinic acetylcholine receptor alpha4 subunit gene polymorphism and attention deficit hyperactivity disorder.		118504	9396	2	2001	The Transmission Disequilibrium Test demonstrated no evidence that variation at the nicotinic acetylcholine alpha 4 receptor Cfol polymorphism influences susceptibility to ADHD.	Cohort 70 parent-proband trios 										
119284	N	bipolar disorder	PSYCH	PSY	Tobacco Use Disorder|Genetic Predisposition to Disease|Bipolar Disorder	8	8p21	CHRNA2	27374181	27392675		Lohoff, F. W.  et al. 2005	15996750				Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000742.1			CDC GDPinfo	1135	Hs.558310			Psychiatry research. 2005 Jun;135(3):171-7	No association between common variations in the neuronal nicotinic acetylcholine receptor alpha2 subunit gene (CHRNA2) and bipolar I disorder.		118502	15812	2	2005												
119285		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	15	15q24	CHRNA3	76672449	76700377		Kawamata, J.  et al. 2002	12214130				Cholinergic receptor, nicotinic, alpha polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000743.2			CDC GDPinfo	1136	Hs.89605			J Alzheimers Dis    2002    4    71-6	Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.		118503	9397	2	2002	These findings suggested that genetic polymorphisms of the neuronal nAChR genes might be related to the pathogenesis of sporadic AD.	Case Alzheimer's disease cases;Control:controls										
119286		panic disorder	PSYCH	PSY	Panic Disorder	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Steinlein OK et al. 1997	9129724				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			KGB	1137	Hs.10734			American journal of medical genetics. 1997 Apr;74(2):199-201	Neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and panic disorder: an association study.		118504	1258	1	1997												
119281		alcohol abuse; drug dependence; affective psychoses	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease|Mood Disorders	7	7q31-q35	CHRM2	136203938	136352311		Luo, X.  et al. 2005	16000316				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDPinfo	1129	Hs.535891			Human molecular genetics. 2005 Aug;14(16):2421-34	CHRM2 gene predisposes to alcohol dependence, drug dependence and affective disorders: results from anextended case-control structured association study.		118493	15810	2	2005	We conclude that  variation in CHRM2 predisposes to AD, DD and affective disorders. One haplotype block within the 5'-UTR of CHRM2 may be more important for the development of these disorders than other regions. Interaction between two specific alleles within this block and interaction between two specific diplotypes covering this block multiplicatively increased risk for AD and DD. Although interaction between these two diplotypes also increased risk for affective disorders, the magnitude of the increased risk was less than the sum of the individual risks. In addition, a specific diplotype might inversely affect risk for AD and DD and risk for affective disorders.											
119282	N	asthma	IMMUNE	IMM	Asthma	7	7q31-q35	CHRM2	136203938	136352311		Yamamoto, T.  et al. 2002	12381439				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDPinfo	1129	Hs.535891			Ann Genet. 2002 Jul-Sep;45(3):109-13	Mutation screening of the muscarinic m2 and m3 receptor genes in asthmatics, outgrow subjects, and normal controls.		118493	15811	2	2002	Our data suggest that both the m2 and m3 receptor genes are highly conserved, and no significant genetic mutations are related to their possible functional changes in human asthma.	Case:102/58 current asthmatics (n=102) and patients who outgrew:asthma (n=58);Control:70 random non-asthmatic controls										
119283		asthma	IMMUNE	IMM	Asthma	7	7q31-q35	CHRM2	136203938	136352311		Dewar, J. C.  et al. 2003	12724032				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1		Great Britain	CDC GDPinfo	1129	Hs.535891			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		118493	26811	2	2003	Review article											
119278	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Susceptibility	11	11q13	CHRM1	62432726	62445588		Liu, H. C.  et al. 2005	15383745				Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2			CDC GDPinfo	1128	Hs.632119			Dementia and geriatric cognitive disorders. 2005 ;19(1):42-5	Association analysis for the muscarinic M1 receptor genetic polymorphisms and Alzheimer's disease.		118510	20797	2	2005	Our negative findings suggest that it is unlikely that the CHRM1 C267A polymorphism plays a substantial role in conferring susceptibility to AD. We propose that other genetic variations of CHRM1, relating either to AD or to the therapeutic response for AD, may need further investigation.	Control:169 normal controls;Case:232 Alzheimer's disease cases										
119279	Y	major depression	PSYCH	PSY	Depressive Disorder, Major	7	7q31-q35	CHRM2	136203938	136352311		Comings DE et al. 2002	12116189				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			KGB	1129	Hs.535891			American journal of medical genetics. 2002 Jul;114(5):527-9	Association of the muscarinic cholinergic 2 receptor (CHRM2) gene with major depression in women.		118493	1257	1	2002	These results are consistent with a gender-specific role of the CHRM2 gene in depression in women.	Case:126 women with major depression;Control:304 women without major depression										
119280	Y	depression	PSYCH	PSY	Depressive Disorder, Major	7	7q31-q35	CHRM2	136203938	136352311		Comings, D. E.  et al. 2002	12116189				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDPinfo	1129	Hs.535891			American journal of medical genetics. 2002 Jul;114(5):527-9	Association of the muscarinic cholinergic 2 receptor (CHRM2) gene with major depression in women.		118493	15809	2	2002	These results are consistent with a gender-specific role of the CHRM2 gene in depression in women.	Case:126 women with major depression;Control:304 women without major depression										
119274	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p26.1	CHL1	213649	426097		Chen, Q. Y.  et al. 2005	15653271				Cell adhesion molecule with homology to L1CAM (close homolog of L1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006614.2	Chinese		CDC GDPinfo	10752	Hs.148909			Schizophrenia research. 2005 Mar;73(3-Feb):269-74	Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population		607416	15807	2	2005	Our results confirm the positive association between CHL1 gene and schizophrenia and indicate that CHL1 may be involved in the etiology of schizophrenia.	Case:560 Chinese Han schizophrenic cases;Control:576:controls										
119276	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	CHRM1	62432726	62445588	n	Adra 1999	10450859	A1494G			Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2			KCB	1128	Hs.632119			Clinical genetics. 1999 Jun;55(6):431-7			118510	1256	1	1999												
119277	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q13	CHRM1	62432726	62445588		Liao, D. L.  et al. 2003	14504414				Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2			CDC GDPinfo	1128	Hs.632119			Neuropsychobiology. 2003 ;48(2):72-6	Association of muscarinic m1 receptor genetic polymorphisms with psychiatric symptoms and cognitive function in schizophrenic patients.		118510	9395	2	2003	 This study demonstrated that in schizophrenic patients, the heterozygote group of CHRM1 C267A polymorphism (267C/A) had more correct responses and less perseverative errors on the WCST performance than the 267C/C homozygote group, implicating that this polymorphism may be related to prefrontal cortical function. Our results also suggested that the C267A polymorphism plays no major role in the susceptibility to and clinical manifestations of schizophrenia.	Cohort 243 schizophrenic patients hospitalized in chronic care wards 										
119270	Y	bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	1	1q31-q32	CHIT1	201448581	201508560		Lehrnbecher, T.  et al. 2005	16107886				Chitinase 1 (chitotriosidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003465.1			CDC GDPinfo	1118	Hs.201688			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		600031	19882	2	2005												
119271		IQ	OTHER	OTH		3	3p26.1	CHL1	213649	426097		Angeloni D et al. 1999	10551550				cell adhesion molecule with homology to L1CAM (close homolog of L1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006614.2			KGB	10752	Hs.148909			Psychiatric genetics. 1999 Sep;9(3):165-7	Two single nucleotide polymorphisms (SNPs) in the CALL gene for association studies with IQ.		607416	6674	1	1999												
119273	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p26.1	CHL1	213649	426097		Sakurai, K.  et al. 2002	11986985				Cell adhesion molecule with homology to L1CAM (close homolog of L1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006614.2			CDC GDPinfo	10752	Hs.148909			Molecular psychiatry. 2002 ;7(4):412-5	An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia.		607416	9394	2	2002	An association between this CHL1 gene polymorphism and schizophrenia supports the notion that cell adhesion molecules are involved in the etiology of schizophrenia.	Control:229 Japanese control subjects;Case:282 Japanese schizophrenic patients										
119267	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	20	20pter-p12	CHGB	5840167	5854003		Iijima, Y.  et al. 2004	15219467				Chromogranin B (secretogranin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001819.1	Japanese	Japan	CDC GDPinfo	1114	Hs.516874			Biological psychiatry. 2004 Jul;56(1):7-Oct	Association between chromogranin b gene polymorphisms and schizophrenia in the Japanese population.		118920	9393	2	2004	 Results suggest that the CHGB variations are involved in the susceptibility to schizophrenia in our study population.	Control:192 healthy controls;Case:192 Japanese schizophrenic patients										
119268	N	candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q31-q32	CHIT1	201448581	201508560		Choi, E. H.  et al. 2005	16110781				Chitinase 1 (chitotriosidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003465.1			CDC GDPinfo	1118	Hs.201688			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		600031	10654	2	2005												
119269		filiariasis	INFECTION	INF	Elephantiasis, Filarial|Genetic Predisposition to Disease	1	1q31-q32	CHIT1	201448581	201508560		Hise, A. G.  et al. 2003	14551607				Chitinase 1 (chitotriosidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003465.1			CDC GDPinfo	1118	Hs.201688			Genes and immunity. 2003 Oct;4(7):524-7	Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis		600031	14290	2	2003	These results indicate that a CHIT1 genotype associated previously with susceptibility to filariasis in residents of southern India and TLR2 and TLR4 polymorphisms do not correlate with infection status or disease phenotype in this Melanesian population.	Cohort 906 residents of an area of Papua New Guinea where bancroftian filariasis is endemic Papua New Guinea 										
119264		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Gorski, B.  et al. 2005	15980987				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish	Poland	CDC GDPinfo	11200	Hs.291363			Breast cancer research and treatment. 2005 Jul;92(1):19-24	Breast cancer predisposing alleles in Poland.		604373	20796	2	2005												
119265		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	22	22q11	CHEK2	27413730	27467822		Rajkumar, T.  et al. 2003	14507240				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Indian	India	CDC GDPinfo	11200	Hs.291363			Asian Pacific journal of cancer prevention. 2003 Jul-Sep;4(3):203-8	BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.		604373	24145	2	2003	This is the first study from South India, on BRCA1, BRCA2 & CHEK2 (1100 del C) mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer, using the sensitive DHPLC approach.	Control healthy blood donors;Case:22 breast cancer patients with a family history of breat and/or ovarian cancer and early onset breast:cancer South India										
119266	Y	schizophrenia	PSYCH	PSY	Schizophrenia	20	20pter-p12	CHGB	5840167	5854003		Zhang, B.  et al. 2002	11959426				Chromogranin B (secretogranin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001819.1	Chinese		CDC GDPinfo	1114	Hs.516874			Neuroscience letters. 2002 May;323(3):229-33	Polymorphisms of chromogranin B gene associated with schizophrenia in Chinese Han population.		118920	9392	2	2002	Our results confirm the role of neuropeptides in the pathogenesis of schizophrenia.	Case Chinese Han schizophrenia cases;Control Chinese Han controls										
119261		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Meijers-Heijboer, H.  et al. 2002	11967536				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Nature genetics. 2002 May;31(1):55-9	Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations		604373	15805	2	2002	This suggests that the biological mechanisms underlying the elevated risk of breast cancer in CHEK2 mutation carriers are already subverted in carriers of BRCA1 or BRCA2 mutations, which is consistent with participation of the encoded proteins in the same pathway.	Cohort healthy individuals 										
119262		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q12.1	RAD53	27418917	27419534		Allinen, M.  et al. 2001	11461078				CHK2 checkpoint homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF217975	Finnish		CDC GDPinfo	11200	Hs.182898			British journal of cancer. 2001 Jul;85(2):209-12	Mutation analysis of the CHK2 gene in families with hereditary breast cancer		604373	19214	2	2001	The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population.	Case individuals from 79 Finnish hereditary breast cancer families;Control healthy controls										
119263		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Frank, B.  et al. 2005	15987456				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Breast cancer research. 2005 ;7(4):R502-5	TP53-binding protein variants and breast cancer risk: a case-control study.		604373	20795	2	2005	 The lack of association casts doubt on the putative effects of D353E, G412S, and K1136Q on breast cancer risk. Investigating a larger study cohort might elucidate the influence of the 6bp deletion 1347_1352delTATCCC. Studying the functional effect and the impact of this variant on the risk of other cancers may be revealing.											
119257		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		de Jong, M. M.  et al. 2005	15852425	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Genes, chromosomes & cancer. 2005 Aug;43(4):377-82	Colorectal cancer and the CHEK2 1100delC mutation.		604373	15800	2	2005	Together, the results are consistent with a low-penetrance effect (OR 1.5-2.0) of the CHEK2 1100delC on CRC risk. Large case-control studies are required to clarify the exact role of the CHEK2 1100delC mutation in CRC.	Control:230:controls;Case:629/105 unselected colorectal cancer cases (n=629) and colorectal cancer cases diagnosed in patients before age 50 (n=105)										
119258		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		de Jong, M. M.  et al. 2005	16043347				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Eur J Cancer. 2005 Aug;41(12):1819-23	No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors.		604373	15802	2	2005												
119260		breast cancer	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms	22	22q11	CHEK2	27413730	27467822		Johnson, N.  et al. 2005	16257342	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		Great Britain	CDC GDPinfo	11200	Hs.291363			Lancet. 2005 Oct;366(9496):1554-7	Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes:a familial study.		604373	15804	2	2005												
119254	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Friedrichsen, D. M.  et al. 2004	15535844				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Breast cancer research. 2004 ;6(6):R629-35	Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.		604373	15797	2	2004	 The CHEK2 variants are rare in the western Washington population and, based on accumulated evidence across studies, are unlikely to be major breast cancer susceptibility genes. Thus, screening for the 1100delC variant may have limited usefulness in breast cancer prevention programs in the USA.	Control:459:controls;Case:506 young women with breast cancer western Washington										
119255	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Bogdanova, N.  et al. 2005	15810020				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		Byelarus|Germany	CDC GDPinfo	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2005 Aug;116(2):263-6	Association of two mutations in the CHEK2 gene with breast cancer.		604373	15798	2	2005	Our data indicate that the I157T allele, and possibly the IVS2+1G > A allele, of the CHEK2 gene contribute to inherited breast cancer susceptibility.	Control:307 population controls Republic of Belarus;Case:424 breast cancer cases Republic of Belarus;Control:486 population controls:Germany;Case:996 German breast cancer cases from a hospital-based:cohort:Germany										
119256	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplastic Syndromes, Hereditary|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		van Puijenbroek, M.  et al. 2005	15818573	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			The Journal of pathology. 2005 Jun;206(2):198-204	Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.		604373	15799	2	2005	It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer.	Cohort 564 familial colorectal tumour cases 										
119251	N	breast cancer	CANCER	CAN	Carcinoma, Medullary|Carcinoma, Ductal|Carcinoma, Lobular|Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Kilpivaara, O.  et al. 2004	15472904				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2005 Feb;113(4):575-80	Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients.		604373	15794	2	2004	No significant correlation was seen between CHEK2 status and hormone receptor status, histology, lymph node status, or overall survival.	Cohort 1,297 unselected breast cancer patients 										
119252		breast cancer, male	CANCER	CAN	Breast Neoplasms, Male|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Sodha, N.  et al. 2004	15488637				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Cancer letters. 2004 Nov;215(2):187-9	Analysis of familial male breast cancer for germline mutations in CHEK2.		604373	15795	2	2004	One individual was found to harbour the 1100delC variant. No other mutations were identified. Variants other than 1100delC are rare in male breast cancer.	Cohort 26 breast cancer cases with male representation 										
119253	Y	cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Cybulski, C.  et al. 2004	15492928				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		Poland	CDC GDPinfo	11200	Hs.291363			American journal of human genetics. 2004 Dec;75(6):1131-5	CHEK2 is a multiorgan cancer susceptibility gene.		604373	15796	2	2004	The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought.	Control:4,000:controls:Po;Case:4,008 cancer cases:Poland										
119248	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822			15122511	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			American journal of human genetics. 2004 Jun;74(6):1175-82	CHEK2*1100delC and susceptibility to breast cancer:a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.		604373	15791	2	2004	The results are consistent with the hypothesis that CHEK2*1100delC multiplies the risks associated with susceptibility alleles in other genes to increase the risk of breast cancer.	Case:10,860 breast cancer cases from 10 case-control studies;Control:9,065 controls from 10 case-control studies										
119249		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Kilpivaara, O.  et al. 2004	15239132				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2004 Sep;111(4):543-7	CHEK2 variant I157T may be associated with increased breast cancer risk.		604373	15792	2	2004	These functional properties of the I157T protein suggest that this variant may have negative effect on the pool of normal CHEK2 protein in heterozygous carrier cells by formation of heterodimers with wild-type CHEK2. The I157T variant may be associated with breast cancer risk, but the risk is lower than for 1100delC.	Control population controls;Case population-based series of breast cancer patients										
119250	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Baysal, B. E.  et al. 2004	15385111				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Gynecologic oncology. 2004 Oct;95(1):62-9	Analysis of CHEK2 gene for ovarian cancer susceptibility.		604373	15793	2	2004	 These results suggest that variations in CHEK2 do not make a significant contribution to the pathogenesis of OvCa in the U.S. population.	Case ovarian cancer cases ascertained from the United States through Gynecologic Oncology Group, the University of Hawaii Cancer Research Center, and Creighton University:US;Control controls recruited from Pittsburgh and Hawaii										
119245	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Broeks, A.  et al. 2004	14997059				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		Netherlands	CDC GDPinfo	11200	Hs.291363			Breast cancer research and treatment. 2004 Jan;83(1):91-3	Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers.		604373	15788	2	2004	These results warrant prolonged medical surveillance and may indicate a clinically important interaction between CHEK2 heterozygosity and radiation in the development of contralateral breast cancer.	Cohort bilateral breast cancer patients 										
119246	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Cybulski, C.  et al. 2004	15087378				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish		CDC GDPinfo	11200	Hs.291363			Cancer research. 2004 Apr;64(8):2677-9	A novel founder CHEK2 mutation is associated with increased prostate cancer risk.		604373	15789	2	2004	Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk.	Control:1,921:controls;Case:690 familial prostate cancer cases:Poland										
119247		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	22	22q11	CHEK2	27413730	27467822		Dufault, M. R.  et al. 2004	15095295				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2004 Jun;110(3):320-5	Limited relevance of the CHEK2 gene in hereditary breast cancer.		604373	15790	2	2004	The low prevalence and penetrance of the exon 10 deletion mutations together with no, or an uncertain elevation in risk for other CHEK2 mutations suggests a limited relevance for CHEK2 mutations in familial breast cancer. Further evaluation of the unique variants observed in breast cancer is required to determine if they may play a role in a polygenic model of familial breast cancer. Nevertheless, it seems premature to include CHEK2 screening in genetic testing.	Case:30 unrelated patients from 516 breast cancer families negative for BRCA1 and BRCA2 gene mutations:German;Control:500 healthy women aged over 50 years										
119242	N	colorectal cancer	CANCER	CAN	Adenoma|Carcinoma|Colorectal Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Lipton, L.  et al. 2003	14568168	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Cancer letters. 2003 Oct;200(2):149-52	Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.		604373	15785	2	2003	The CHEK2 1100delC allele was not over-represented in cases suggesting that this variant is not associated with an increased risk of colorectal disease.	Cohort 149 patients with multiple colorectal adenomas some of whom developed colorectal cancer 										
119243	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Seppala, E. H.  et al. 2003	14612911				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		Finland	CDC GDPinfo	11200	Hs.291363			British journal of cancer. 2003 Nov;89(10):1966-70	CHEK2 variants associate with hereditary prostate cancer.		604373	15786	2	2003	The results suggest that CHEK2 variants are low-penetrance prostate cancer predisposition alleles that contribute significantly to familial clustering of prostate cancer at the population level.	Case:120 patients with hereditary prostate cancer;Control:480 population controls										
119244	N	breast cancer, male	CANCER	CAN	Breast Neoplasms, Male|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Syrjakoski, K.  et al. 2004	14648717	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2004 Jan;108(3):475-6	CHEK2 1100delC is not a risk factor for male breast cancer population.		604373	15787	2	2004	Our results indicate that CHEK2 1100delC variant does not substantially increase the risk of male breast cancer at the population level. We cannot exclude the fact that a small fraction of hereditary, family-positive male breast cancers could be attributable to CHEK2 mutations.	Cohort 114 Finnish male breast cancer patients 										
119239	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Sodha, N.  et al. 2002	12454775				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			British journal of cancer. 2002 Dec;87(12):1445-8	CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.		604373	9389	2	2002	This study provides further evidence that sequence variation in CHEK2 is associated with an increased risk of breast cancer, and implies that tumorigenesis in association with CHEK2 mutations does not involve loss of the wild type allele.	Control:300 healthy controls;Case:68 individuals from 68 breast cancer families										
119240	N	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Kuschel, B.  et al. 2003	12917215				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDPinfo	11200	Hs.291363			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):809-12	Common polymorphisms in checkpoint kinase 2 are not associated with breast cancer risk.		604373	9390	2	2003	We conclude that  the CHEK2 polymorphisms IVS + 1a and a1013g do not confer an increased risk of breast cancer. It is also unlikely that other, as yet unidentified, common polymorphisms that affect risk are present in the gene in the British population.	Case:1,786 breast cancer cases:UK;Control:1,828:controls										
119241	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Shaag, A.  et al. 2005	15649950				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Jewish		CDC GDPinfo	11200	Hs.291363			Human molecular genetics. 2005 Feb;14(4):555-63	Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population		604373	9391	2	2005	We conclude that  CHEK2.S428F increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women, whereas CHEK2.P85L is a neutral allele. In general, these results suggest that selecting probands with extended haplotypes that co-segregate with disease can improve the efficiency of resequencing efforts and that quantitative complementation tests in yeast can be used to evaluate variants in genes with highly conserved function.	Case:1,632 Ashkenazi Jewish population breast cancer patients not selected for family history or age at diagnosis;Control:1,673:controls										
119237		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156		Cook, L. J.  et al. 2005	15690550				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDPinfo	1103	Hs.302002			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):8-May	Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.		118490	24144	2	2005	Replication analyses of these two loci failed to detect any significant association for disease in our case-control samples.	Case Alzheimer's disease cases from two sample sets;Control controls from two sample sets										
119238		CHARGE syndrome	DEVELOPMENTAL	DEV	Spinal Diseases|Mouth Diseases|Choanal Atresia|Vestibular Diseases|Central Nervous System Diseases|Coloboma|Heart Defects, Congenital|Abnormalities, Multiple|Syndrome	8	8q12.2	CHD7	61753892	61942021		Jongmans, M.  et al. 2005	16155193				Chromodomain helicase DNA binding protein 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017780.2			CDC GDPinfo	55636	Hs.20395			Journal of medical genetics. 2005	CHARGE syndrome: the phenotypic spectrum ofmutations in the CHD7 gene.		608892	15783	2	2005	 CHD7 mutations account for the majority of the cases with CHARGE syndrome, with a broad clinical variability and without an obvious genotype-phenotype correlation. In one case evidence for germline mosaicism was provided.											
119233	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156		Harold, D.  et al. 2003	12759818				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3		Great Britain	CDC GDPinfo	1103	Hs.302002			Human genetics. 2003 Aug;113(3):258-67	Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.		118490	19469	2	2003	Three non-coding SNPs were detected in SLC18A3. None demonstrated any reproducible association with late-onset AD in our samples. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium.	Case:500 late-onset Alzheimer's disease cases:UK;Control:500:controls										
119234	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156		Kim, K. W.  et al. 2004	15276243				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDPinfo	1103	Hs.302002			Neuroscience letters. 2004 Aug;366(2):182-6	Choline acetyltransferase G +4 A polymorphism confers a risk for Alzheimer's disease in concert with Apolipoprotein E 4		118490	20793	2	2004	The ChAT AA is a novel genetic risk factor AD, and the SSVS is a useful approach for analyzing association with multiple candidate genes simultaneously.	Case:246 Alzheimer's disease patients;Control:561 non-demented controls										
119235		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156		Ozturk, A.  et al. 2005	16223550				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDPinfo	1103	Hs.302002			Neurobiology of aging. 2005	Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.		118490	20794	2	2005												
119230	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156	n	Harold D 2003	12759818				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3		Great Britain	KGB	1103	Hs.302002			Human genetics. 2003 Aug;113(3):258-67	Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.		118490	1255	1	2003	Three non-coding SNPs were detected in SLC18A3. None demonstrated any reproducible association with late-onset AD in our samples. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium.	Case:500 late-onset Alzheimer's disease cases:UK;Control:500:controls										
119231	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156		Mubumbila, V.  et al. 2002	12401548				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDPinfo	1103	Hs.302002			Neuroscience letters. 2002 Nov;333(1):12-Sep	Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease.		118490	9387	2	2002	We suggest that such a polymorphism might be one of the events conferring an increased risk for deterioration of memory and cognition functions in AD.	Case Alzheimer's disease patients;Control:controls										
119232	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156		Schwarz, S.  et al. 2003	12770689				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDPinfo	1103	Hs.302002			Neuroscience letters. 2003 Jun;343(3):167-70	Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer's disease		118490	9388	2	2003	We conclude that  the previously identified polymorphism is not associated with AD.	Control:143 cognitively healthy controls;Case:242 patiuents with Alzheimer's disease										
119227		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23	CH25H	90955673	90957051		Shibata, N.  et al. 2005	16157450				Cholesterol 25-hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003956.3		Caribbean Region|Ontario|Florida	CDC GDPinfo	9023	Hs.47357			Neuroscience letters. 2006 Jan;391(3):142-6	Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.		604551	24142	2	2005												
119228	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156		Mubumbila V et al. 2002	12401548				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			KGB	1103	Hs.302002			Neuroscience letters. 2002 Nov;333(1):12-Sep	Identification of a single nucleotide polymorphism in the choline acetyltransferase gene associated with Alzheimer's disease.		118490	1253	1	2002	We suggest that such a polymorphism might be one of the events conferring an increased risk for deterioration of memory and cognition functions in AD.	Case Alzheimer's disease patients;Control:controls										
119229	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156	n	Schwarz S et al. 2003	12770689				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			KGB	1103	Hs.302002			Neuroscience letters. 2003 Jun;343(3):167-70	Lack of association between a single nucleotide polymorphism within the choline acetyltransferase gene and patients with Alzheimer's disease.		118490	1254	1	2003	We conclude that  the previously identified polymorphism is not associated with AD.	Control:143 cognitively healthy controls;Case:242 patiuents with Alzheimer's disease										
119223		pancreatitis	IMMUNE	IMM	Pancreatitis, Alcoholic	7	7q31.2	CFTR	116893073	117095954		Perri, F.  et al. 2003	12939655				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			European journal of human genetics. 2003 Sep;11(9):687-92	Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis		602421	19105	2	2003	The supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse.	Cohort 45/34 unrelated alcoholic chronic pancreatitis patients (n=45) and patients with alcoholic liver disease (n=34) 										
119224	Y	pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Bernardino, A. L.  et al. 2003	14526128				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Brazil	CDC GDPinfo	1080	Hs.489786			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients		602421	19106	2	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
119220		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing	7	7q31.2	CFTR	116893073	117095954		Neri, T. M.  et al. 2003	14567462				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Italy	CDC GDPinfo	1080	Hs.489786			Digestive and liver disease. 2003 Aug;35(8):571-6	Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.		602421	17185	2	2003	 These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.	Control:183 normal controls of the same population;Case:64 primary sclerosing cholangitis patients Northern Italy		HLA	DRB1*01 *1601 or *04	HLA	"DRB1*03, DQA1*0501, DQB1*02 "	TNFA2		Y		primary sclerosing cholangitis
119222		pancreatitis; hypertrypsinemia	IMMUNE	IMM	Pancreatitis|Infant, Newborn, Diseases	7	7q31.2	CFTR	116893073	117095954		Gomez Lira, M.  et al. 2001	12120234				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Pancreatology. 2001 ;1(5):538-42	CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.		602421	19103	2	2001	 The CFTR gene may be involved in IP and NHNST, while the Try4 gene may be involved in IP, but not in NHNST, in this limited series of observations.	Cohort 32/50 sporadic idiopathic pancreatitis patients (N=32) and neonates with hypertrypsinemai and normal sweat chloride tests (n=50) 										
119217		asthma; chronic obstructive pulmonary disease	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Dahl, M.  et al. 2005	16212675			intron	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Respiratory research. 2005 Oct;6(1):113	Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study.		602421	15781	2	2005	 Polythymidine 5T heterozygosity is not associated with pulmonary dysfunction or disease in the adult Caucasian population. Furthermore, our results support that F508del heterozygosity is associated with increased asthma risk independently of the 5T allele.											
119218		cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD; 21-hydroxylase deficiency	OTHER	OTH	Cystic Fibrosis|Adrenal Hyperplasia, Congenital	7	7q31.2	CFTR	116893073	117095954		Ezquieta, B.  et al. 2005	16238926				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Spanish		CDC GDPinfo	1080	Hs.489786			Med Clin (Barc). 2005 Oct;125(13):493-5	[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening.]		602421	16060	2	2005	 We have found that CF is less frequent and NC21OHD more frequent in the Spanish population than in other Caucasian populations.											
119219		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Sandford, A. J.  et al. 2002	12149538				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		602421	17040	2	2002	Review article		smoking (tobacco)									
119214		nasal polyposis	OTHER	OTH	Cystic Fibrosis|Nasal Polyps	7	7q31.2	CFTR	116893073	117095954		Kostuch, M.  et al. 2005	16075239				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			European archives of oto-rhino-laryngology. 2005 Dec;262(12):982-6	Analysis of most common CFTR mutations in patients affected by nasal polyps.		602421	15778	2	2005												
119215		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Ashavaid, T. F.  et al. 2005	16137181				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Indian	India	CDC GDPinfo	1080	Hs.489786			Molecular diagnosis. 2005 ;9(2):59-66	Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.		602421	15779	2	2005	 The findings of this study suggest a difference in relative frequencies and spectrum of CFTR mutations in Indian CF cases. A larger screening study of the entire CFTR gene in clinically well defined CF cases is required to delineate common mutations in the CFTR gene and enable molecular diagnosis of CF in India.											
119216		pancreatitis, alcoholic	IMMUNE	IMM	Pancreatitis, Alcoholic	7	7q31.2	CFTR	116893073	117095954		Lee, K. H.  et al. 2005	16187186				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Korean		CDC GDPinfo	1080	Hs.489786			Digestive diseases and sciences. 2005 Oct;50(10):1852-6	Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.		602421	15780	2	2005												
119211		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Alvarez, A. E.  et al. 2004	15505732				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Brazil	CDC GDPinfo	1080	Hs.489786			Jornal de pediatria. 2004 Sep-Oct;80(5):371-9	[Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristicsof 104 patients and their association with genotype and disease severity.]		602421	15775	2	2004	 The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients.	Cohort 104 patients assisted at UNICAMP hospital's Cystic Fibrosis Clinic Jul, 1990 - Jul, 2000 										
119212		cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Exocrine Pancreatic Insufficiency	7	7q31.2	CFTR	116893073	117095954			15637983				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Srpski arhiv za celokupno lekarstvo. 2001 May-Jun;129 Suppl 1:9-Jun	[Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis]		602421	15776	2		On the basis of both preceding hypotheses and our present data (Table 2 and Table 3), it was possible to classify mutations as "severe" or "mild" with respect to pancreatic function (Table 4). This study strengthens the hypothesis that pancreatic function status in CF is genetically determined by specific mutations at the CF locus. Our data also strongly support the hypothesis that, with respect to pancreatic function, "mild" mutant alleles confer a higher residual CFTR activity than do "severe" mutant alleles. Although PS occurs in patients who have one or two "mild" mutations, PI occurs in patients who are homozygous or who are genetic compounds of two "severe" mutant alleles.	Cohort 32 cystic fibrosis patients Belgrade, Ireland 										
119209		cystic fibrosis; P. aeruginosa infection	INFECTION	INF	Pseudomonas Infections|Cystic Fibrosis|Disease Susceptibility	7	7q31.2	CFTR	116893073	117095954		Rose, V. D.  et al. 2004	15367919				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			European journal of human genetics. 2005 Jan;13(1):96-101	Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis		602421	15773	2	2004	The observation that CF patients carrying the R allele of FcgammaRIIA are at higher risk of acquiring chronic P. aeruginosa infection suggests that the FcgammaRII loci genetic variation is contributing to this infection susceptibility.	Case:167 Italian unrelated patients with cystic fibrosis;Control:50 control subjects		FcgammaRIIA	R					Y		cystic fibrosis P. aeruginosa infection
119210	Y	blood pressure, arterial; cystic fibrosis	CARDIOVASCULAR	CARD	Hypertension	7	7q31.2	CFTR	116893073	117095954		Super, M.  et al. 2004	15477385				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Hypertension. 2004 Dec;44(6):878-83	Blood pressure and the cystic fibrosis gene:evidence for lower pressure rises with age in female carriers.		602421	15774	2	2004	Older CF carrier females had lower systolic and diastolic pressures than matched control subjects, with a tendency for blood pressure to increase less with age. This could result in significant reduction in stroke and heart disease. The effect on blood pressure is insufficient to prevent hypertension, though it remains conceivable that the severity might be ameliorated in carriers.	Case:232 known CF mutation carriers;Control:246 mutation-negative controls										
119206	Y	bronchiectasis	OTHER	OTH	Bronchiectasis	7	7q31.2	CFTR	116893073	117095954		Casals, T.  et al. 2004	15151509				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Clinical genetics. 2004 Jun;65(6):490-5	Bronchiectasis in adult patients: an expression ofheterozygosity for CFTR gene mutations?		602421	15770	2	2004	These results suggest the involvement of the CFTR gene in bronchiectasis of unknown etiology in adult patients.	Control subjects from the general population in which the same molecular analysis was previously performed;Case:55 bronchiectasis adult patients with unknown etiology										
119207		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Garcia Hernandez, G.  et al. 2004	15171831				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Spain	CDC GDPinfo	1080	Hs.489786			Med Clin (Barc). 2004 May;122(18):698-700	[Patients with cystic fibrosis managed at the cystic fibrosis units of Madrid: cross-sectionalstudy of 387 subjects]		602421	15771	2	2004	 CF patients from Madrid have a good nutritional status, less P. aeruginosa colonization, less pancreatic insufficiency and better lung function than those of the American CF Registry. The lower prevalence of homozygous F508del in our population may explain, at least partly, our findings.	Cohort 387 cystic fibrosis patients Spain 2001 										
119208	Y	pancreatitis	IMMUNE	IMM	HIV Infections|Pancreatitis|Acute Disease	7	7q31.2	CFTR	116893073	117095954		Felley, C.  et al. 2004	15238770				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			AIDS (London, England). 2004 Jul;18(11):1521-7	The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: acase-control study.		602421	15772	2	2004	 CFTR mutations and SPINK-1 polymorphisms are frequent among HIV-positive patients suffering from acute pancreatitis. These mutations may increase the susceptibility to pancreatitis when exposed to environmental risk factors.	Case:51 patients with hyperamylasemia identified during a toxicity study among 1,152 participants of the Swiss HIV Cohort Study:Aug, 1999;Control:51 HIV-infected controls matched according to sex, age, CD4 cell count, viraemia and medication use										
119203	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Gomez-Lira, M.  et al. 2003	12825076				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Italian	Italy	CDC GDPinfo	1080	Hs.489786			European journal of human genetics. 2003 Jul;11(7):543-6	Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.		602421	15767	2	2003	The association of SPINK1 with CFTR gene mutations in IP patients is statistically significant (3/32 IP cases and 0/100 control individuals carrying mutations in both genes; Fisher's exact test P=0.01).	Cohort 32 idiopathic pancreatitis patients Italy 										
119204		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Texereau, J.  et al. 2004	14760158				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Thorax. 2004 Feb;59(2):156-8	Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis.		602421	15768	2	2004	 These data suggest a possible link between the NOS1 gene locus and the rate of decline in lung function in patients with CF.	Case:59 patients with cystic fibrosis;Control:59 healthy controls										
119205	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Naruse, S.  et al. 2004	15084988				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Japanese	Japan	CDC GDPinfo	1080	Hs.489786			Pancreas. 2004 Apr;28(3):e80-5	A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.		602421	15769	2	2004	 CFTR dysfunction as evidenced by a finger sweat chloride test is present in about half of Japanese patients with chronic pancreatitis, suggesting that this test may be useful for detecting the high-risk group. A higher proportion of the (TG) 12 allele may be a genetic background for elevated sweat chloride concentrations in Japanese patients.	Control:25 healthy volunteers;Case:25 Japanese patients with chronic (21 alcoholic and 4:idiopathic) pancreatitis										
119200	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954			12624947				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Russian	Bashkiria	CDC GDPinfo	1080	Hs.489786			Molekuliarnaia biologiia. 2003 Jan-Feb;37(1):61-7	[The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan]		602421	15764	2	2003	Bashkortostan was shown to differ in CFTR mutation spectrum from other regions of Russia. The results will allow direct DNA diagnostics of CF in far more families. Molecular screening of probands' relatives will contribute to identification and medical genetic counseling of heterozygous carriers, which is essential for CF prevention.	Cohort patients with cystic fibrosis Bashkortosan, Russia 										
119202	N	congenital absence of the uterus and vagina	DEVELOPMENTAL	DEV	Uterine Diseases	7	7q31.2	CFTR	116893073	117095954		Timmreck, L. S.  et al. 2003	12794695				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			American journal of medical genetics Part A. 2003 Jul;120(1):72-6	Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.		602421	15766	2	2003	This data suggests that it is unlikely for CFTR mutations to cause CAUV in females as they cause CBAVD in some males. Furthermore, the data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have CFTR mutations.	Cohort 25 patients with congenital absence of the uterus and vagina 										
119197		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Navarro, H.  et al. 2002	12143267				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Rev Med Chil. 2002 May;130(5):475-81	[Correlation between phenotype and genotype in a group of patients with cystic fibrosis]		602421	15761	2	2002	 Most patients studied had a severe cystic fibrosis mutation, which was associated with more severe respiratory, pancreatic and nutritional involvement. The early diagnosis of the disease, which would allow to improve the prognosis and the quality of life, must be emphasized.	Cohort 25 patients (14 men, aged between 18 months and 25 years) with a diagnosis of cystic fibrosis based on clinical features plus two abnormal sweat tests 										
119198	Y	congenital bilateral absence of the vas deferens	DEVELOPMENTAL	DEV	Cystic Fibrosis|Congenital Abnormalities	7	7q31.2	CFTR	116893073	117095954		Wang, Z.  et al. 2002	12151438				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Human reproduction (Oxford, England). 2002 Aug;17(8):2066-72	Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.		602421	15762	2	2002	 Compound heterozygosity of severe/mild mutations accounted for the vast majority of the CBAVD patients with two mutations, and underscores the value of a more extensive CF mutation panel for men with CBAVD. The CF100 panel enables higher carrier detection rates especially for men with CBAVD, their partners, partners of known CF carriers, and those with 'mild' CF with rarer mutations.	Cohort 92 men with CBAVD 										
119194		cystic fibrosis	OTHER	OTH	Pseudomonas Infections|Intestinal Obstruction|Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Brouard, J.  et al. 2001	11683083				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	French		CDC GDPinfo	1080	Hs.489786			Arch Pediatr. 2001 Aug;8 Suppl 3:603-609	Article in French- Cystic fibrosis neonatal screening programme in Normandy (France).		602421	15758	2	2001	These results must be compared with the lower Brasfield score at diagnosis in infants diagnosed after 40 days of life (p < 0.01).	Case:150 children diagnosed with cystic fibrosis:Normandy, France between 1980 and 1997										
119195	Y	cystic fibrosis	OTHER	OTH	Pseudomonas Infections|Pneumonia, Bacterial|Cystic Fibrosis|Exocrine Pancreatic Insufficiency|Respiratory Insufficiency	7	7q31.2	CFTR	116893073	117095954		Loubieres, Y.  et al. 2002	11796434				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Chest. 2002 Jan;121(1):73-80	Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.		602421	15759	2	2002	 This study suggests that pulmonary disease appears to be associated with the severity of CF transmembrane regulator mutations.	Cohort 51 adult CF patients 										
119196		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Telleria Orriols, J.  et al. 2002	12139895				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			An Esp Pediatr. 2002 Jul;57(1):60-5	[Neonatal screening for cystic fibrosis]		602421	15760	2	2002	 The two-stage screening method fulfills the required criteria. Its sensitivity is 98.5 % and the basic model can be used in other regions although genetic screening should be optimized by pilot programs to identify the local spectrum of CFTR mutations.	Cohort 36,086 newborns from Castille and Leon (Spain) Spain Jan, 1999-Jun, 2001 										
119191	Y	liver disease, chronic	OTHER	OTH	Liver Diseases|Cystic Fibrosis|Chronic Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Gabolde, M.  et al. 2001	11333866				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Journal of medical genetics. 2001 May;38(5):310-1	The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis		602421	15755	2	2001	These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients.	Cohort 216 homogeneous homozygous DeltaF508 patients 		mannose binding lectin						Y		cirrhosis in cystic fibrosis
119192		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Feldmann, D.  et al. 2001	11397675				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Annales de biologie clinique. 2001 May-Jun;59(3):277-83	[Genetic testing for cystic fibrosis: evaluation ofthe Elucigene CF20 kit in blood and buccal cells]		602421	15756	2	2001	We demonstrated a first time amplification rate of	Cohort 60 samples (30 blood, 30 mouthwash) from cystic fibrosis patients, carriers and unaffected individuals 										
119193		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Repetto, G.  et al. 2001	11680956				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Chile	CDC GDPinfo	1080	Hs.489786			Rev Med Chil. 2001 Aug;129(8):841-7	[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis]		602421	15757	2	2001	 Our results suggest that the majority of undetected mutations are associated with atypical phenotypes or that some patients in this series could have other diseases. We recommend to include mutation analysis in the evaluation of Chilean patients with CF. It is useful to establish prognosis and genetic counselling.	Cohort 57 patients with established diagnosis or suspicion of CF Chile 										
119189		cystic fibrosis; chronic bronchopulmonary diseases; chronic obstructive pulmonary disease/COPD	OTHER	OTH	Respiratory Tract Infections|Cystic Fibrosis|Chronic Disease	7	7q31.2	CFTR	116893073	117095954			15125256				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Russia	CDC GDPinfo	1080	Hs.489786			Genetika. 2004 Mar;40(3):401-8	[Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases]		602421	10967	2	2004	In patients with chronic obstructive pulmonary disease (COPD), the frequencies of the GSTM1 and GSTP1 genotype combinations virtually did not differ from those in the control group suggesting that COPD severity is not related to changes in activities of glutathione S-transferases M1 and P1.	Control:controls;Case patients with cystic fibrosis and chronic bronchopulmonary diseases:Bashkortostan		GSTM1	null	GSTP1	V/V			Y		cystic fibrosis and chronic respiratory tract diseases
119190		cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Infant, Newborn, Diseases	7	7q31.2	CFTR	116893073	117095954		Siret, D.  et al. 2000	11109941				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Arch Pediatr. 2000 Nov;7(11):1154-62	[Does neonatal screening of cystic fibrosis affect outcome? Comparative study of two cohorts in Britanny and Loire-Atlantique with follow-up after ten years]		602421	15754	2	2000	 The homogeneity of both populations and their follow-up points out that even if the numbers of children are small and the study is retrospective, some benefits of neonatal screening appear, which are already found in other countries where it is partly practiced. This leads us recommend its general use in our populations, which should be associated with the follow-up of the screened children in cystic fibrosis centers to achieve the most of its benefits.	Cohort All children with cystic fibrosis born between 01/01/89 and 31/12/97 in Brittany and the Loire-Atlantique, excluding the meconium ileus 										
119187		cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases|alpha 1-Antitrypsin Deficiency|Disease Progression|Acute-Phase Reaction	7	7q31.2	CFTR	116893073	117095954		Frangolias, D. D.  et al. 2003	12689922				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			American journal of respiratory cell and molecular biology. 2003 Sep;29(3 Pt 1):390-6	Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.		602421	9385	2	2003	alpha1-AT genotype did not predict pulmonary disease severity and was not associated with more severe clinical outcome (death or lung transplantation) or age of onset of Pseudomonas aeruginosa infection. BMI was a significant predictor of alpha1-AT levels during exacerbations. alpha1-AT genotype is not a major contributor to the variability of pulmonary disease severity in CF.	Cohort 716 cystic fibrosis patients 		CFTR		alpha1-AT gene	"Z, S, and G1237-->A "			Y	Body mass index	Cystic fibrosis
119188	N	pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Matsubayashi, H.  et al. 2003	14688470				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Cancer biology & therapy. 2003 Nov-Dec;2(6):652-5	Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer.		602421	9386	2	2003	We conclude that  the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polymorphisms do not predispose to the development of pancreatic adenocarcinoma. Furthermore, the N34S polymorphism is rarely found in patients with severe idiopathic chronic pancreatitis.	Control:177/112 chronic cholecystitis controls (n=177) and colorectal cancer controls (n=112);Case:36 patients with familial pancreatic cancer										
119184		CFTR mutation spectrum	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Scotet V 2003	12815607				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		France|Ireland	KGB	1080	Hs.489786			Human mutation. 2003 Jul;22(1):105	Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.		602421	1252	1	2003												
119185		cystic fibrosis	OTHER	OTH		7	7q31.2	CFTR	116893073	117095954			12068629			intron	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Molekuliarnaia biologiia. 2002 May-Jun;36(3):442-6	[Tetranucleotide tandem repeat polymorphism of the CFTR gene intron 6B in populations of the Volga-Ural region]		602421	9383	2		In total, the populations proved to be heterogeneous in TTR allele frequency distribution, the interpopulation difference being significant in most cases.	Cohort eight ethnic populations of the Volga-Ural region, including Bashkir, Tatar, Chuvash, Mari, Mordvinian, Udmurt, Komi-Permyak, and Russian 										
119186		infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia	7	7q31.2	CFTR	116893073	117095954		Kusic, J.  et al. 2002	12073281				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Srpski arhiv za celokupno lekarstvo. 2002 Jan-Feb;130(2-Jan):6-Jan	[Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia]		602421	9384	2	2002	 We concluded that CFTR gene plays a role in the aetiology of obstructive azoospermia and that is also could be involved in some cases of impaired spermatogenesis and sperm maturation. Due to the high incidence of CFTR mutations in patients with obstructive azoospermia we suggest screening of CFTR mutations before assisted reproduction.	Cohort 21 infertile men with oligo or azoospermia 										
119181		Asthma	IMMUNE	IMM	Cystic Fibrosis|Asthma|Disease Susceptibility	7	7q31.2	CFTR	116893073	117095954		Dahl 1998	9654257	deltaF508			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Denmark	KCB	1080	Hs.489786			Lancet. 1998 Jun;351(9120):1911-3			602421	1249	1	1998												
119182	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Kerem E et al. 1997	9196095			splice variant	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			American journal of respiratory and critical care medicine. 1997 Jun;155(6):1914-20	A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.		602421	1250	1	1997												
119183	Y	pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Bernardino AL 2003	14526128				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Brazilian	Brazil	KGB	1080	Hs.489786			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.		602421	1251	1	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
119178		recurrent or chronic idiopathic pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Chronic Disease|Recurrence	7	7q31.2	CFTR	116893073	117095954		Ockenga J et al. 2000	10950058				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			The American journal of gastroenterology. 2000 Aug;95(8):2061-7	Mutations of the cystic fibrosis gene but not cationic trypsinogen gene are associated with recurrent or chronic idiopathic pancreatitis.		602421	1246	1	2000	 CFTR mutations are associated with recurrent acute, or chronic idiopathic pancreatitis, whereas mutations of the cationic trypsinogen mutation do not appear to be a frequent pathogenetic factor.											
119179	Y	elevated sweat chloride concentrations	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Mickle JE et al. 1998	9499426				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Human molecular genetics. 1998 Apr;7(4):729-35	A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.		602421	1247	1	1998												
119180		sarcoidosis	IMMUNE	IMM	Cystic Fibrosis|Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Bombieri C et al. 2000	10980579				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			European journal of human genetics. 2000 Sep;8(9):717-20	Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.		602421	1248	1	2000												
119175	Y	Lung disease	OTHER	OTH	Cystic Fibrosis|Lung Diseases	7	7q31.2	CFTR	116893073	117095954		Noone PG et al. 2000	11069835				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			American journal of respiratory and critical care medicine. 2000 Nov;162(5):1919-24	Lung disease associated with the IVS8 5T allele of the CFTR gene.		602421	1243	1	2000												
119176		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Chillon M et al. 1995	7534040			splice variant	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Spanish		KGB	1080	Hs.489786			American journal of human genetics. 1995 Mar;56(3):623-9	A novel donor splice site in intron 11 of the CFTR gene created by mutation 1811+1.6kbA-->G produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.		602421	1244	1	1995												
119177		atypical sinopulmonary disease	OTHER	OTH	Cystic Fibrosis|Lung Diseases|Paranasal Sinus Diseases	7	7q31.2	CFTR	116893073	117095954		Friedman KJ et al. 1997	9259194	5T allele			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Human mutation. 1997 ;10(2):108-15	Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease.		602421	1245	1	1997												
119172	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Hojo S et al. 1998	9550362				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Clinical genetics. 1998 Jan;53(1):50-3	Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype.		602421	1240	1	1998												
119173	Y	postnatal female survival	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Macek M Jr et al. 1997	9150719				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Human genetics. 1997 May;99(5):565-72	Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.		602421	1241	1	1997												
119174	N	diabetes, type 2	METABOLIC	MET	Cystic Fibrosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954	n	Braun J et al. 1999	10612489	deltaF508			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Experimental and clinical endocrinology & diabetes. 1999 ;107(8):568-9	No association between the deltaF508 cystic fibrosis mutation and type 2 diabetes mellitus.		602421	1242	1	1999												
119169		COPD	OTHER	OTH	Cystic Fibrosis|Bronchiectasis|Bronchitis|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Gervais R 1993	8105250				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Lancet. 1993 Oct;342(8877):997			602421	1237	1	1993												
119170	N	Protection against bronchial asthma	IMMUNE	IMM	Cystic Fibrosis|Asthma|Disease Susceptibility|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954	n	Schroeder 1995	7585155	deltaF508			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		New York	KGB	1080	Hs.489786			Nature medicine. 1995 Jul;1(7):703-5			602421	1238	1	1995												
119171		cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Exocrine Pancreatic Insufficiency	7	7q31.2	CFTR	116893073	117095954		Wagner K et al. 1992	1377659				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3		Austria	KGB	1080	Hs.489786			Human genetics. 1992 Jun;89(4):437-8	Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families.		602421	1239	1	1992												
119166	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954	n	Hakonarson H 2001	11739132	deltaF508. +128ex10			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Icelandic	Iceland	KCB	1080	Hs.489786			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			602421	1234	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
119167		COPD	OTHER	OTH	Cystic Fibrosis|Bronchiectasis|Bronchitis|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Gervais R 1993	8105250				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			KGB	1080	Hs.489786			Lancet. 1993 Oct;342(8877):997			602421	1235	1	1993												
119168	Y	allergic bronchopulmonary aspergillosis ABPA	IMMUNE	IMM	Aspergillosis, Allergic Bronchopulmonary|Asthma	7	7q31.2	CFTR	116893073	117095954	P=0.01	Marchand E 2001	11243954	5 mutations - see txt			Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Belgium		KGB	1080	Hs.489786			Chest. 2001 Mar;119(3):762-7	Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.		602421	1236	1	2001	 These findings indicate that in patients without a clinical diagnosis of CF, CFTR gene mutations could be involved in the development of ABPA, in association with other genetic or environmental factors.											
119163	Y	glomerulonephritis	RENAL	REN	Glomerulonephritis, Membranoproliferative	1	1q32	CFH	194887763	194983257		Abrera-Abeleda, M. A.  et al. 2005	16299065				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Journal of medical genetics. 2005	Variations in the Complement Regulatory Genes Factor H (CFH) and Factor H Related 5 (CFHR5) are Associated with Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease).		134370	15753	2	2005	 We have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. While our data can be interpreted to further implicate complement in the pathogenesis of MPGN II/DDD, these associations could also be unrelated to disease pathophysiology. Functional studies are required to resolve this question.											
119164		macular degeneration, age-related	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Rivera, A.  et al. 2005	16174643				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Human molecular genetics. 2005 Nov;14(21):3227-36	Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.		134370	18947	2	2005												
119165		glomerulonephritis	RENAL	REN	Glomerulonephritis, Membranoproliferative	1	1q22-q23	CFHL5	195213330	195245427		Abrera-Abeleda, M. A.  et al. 2005	16299065				Complement factor H-related 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF295327			CDC GDPinfo	81494	Hs.282594			Journal of medical genetics. 2005	Variations in the Complement Regulatory Genes Factor H (CFH) and Factor H Related 5 (CFHR5) are Associated with Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease).		608593	20791	2	2005	 We have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. While our data can be interpreted to further implicate complement in the pathogenesis of MPGN II/DDD, these associations could also be unrelated to disease pathophysiology. Functional studies are required to resolve this question.											
119159		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Haines, J. L.  et al. 2005	15761120				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Science. 2005 Apr;308(5720):419-21	Complement factor H variant increases the risk of age-related macular degeneration.		134370	15749	2	2005	This common variant likely explains approximately 43% of AMD in older adults.											
119160		macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Hageman, G. S.  et al. 2005	15870199				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Proceedings of the National Academy of Sciences of the United States of America. 2005 May;102(20):7227-32	A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration		134370	15750	2	2005	We propose that genetic variation in a regulator of the alternative complement pathway, when combined with a triggering event, such as infection, underlie a major proportion of AMD in the human population.	Control:400 matched controls;Case:900 age-related macular degeneration cases										
119161		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Zareparsi, S.  et al. 2005	15895326	Y402H			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			American journal of human genetics. 2005 Jul;77(1):149-53	Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.		134370	15751	2	2005	A multiplicative model fits the data well, and we estimate the population frequency of the high-risk C allele to be 0.39 (95% confidence interval 0.36-0.42) and the genotype relative risk to be 2.44 (95% confidence interval 2.08-2.83) for TC heterozygotes and 5.93 (95% confidence interval 4.33-8.02) for CC homozygotes.	Case age-related macular degeneration cases;Control:controls										
119156		myocardial infarct; thromboembolism, venous; C-reactive protein; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Venous Thrombosis|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Zee, R. Y.  et al. 2005	16229850				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Atherosclerosis. 2005	Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: A nested case-control study.		134370	9381	2	2005	 In this large, prospective cohort of apparently healthy Caucasian men, we found no association of the complement factor H Y402H gene polymorphism with risk of incident thromboembolic events, nor with baseline levels of C-reactive protein.											
119157	Y	macular degeneration, age-related	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257			16379025				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	French		CDC GDPinfo	3075	Hs.363396			Molecular vision [electronic resource]. 2005 ;11:1135-40	Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population		134370	9382	2	2005	 These results suggest the contribution of the Y402H polymorphism of the CFH gene to exudative AMD susceptibility also in the French population. This relationship with the CFH may lead to early detection and new strategies for prevention and treatment of AMD.											
119158		hemolytic uremic syndrome	METABOLIC	MET	Kidney Failure, Chronic|Hemolytic-Uremic Syndrome	1	1q32	CFH	194887763	194983257		Neumann, H. P.  et al. 2003	12960213				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2		Austria|Germany|Italy|Switzerland	CDC GDPinfo	3075	Hs.363396			Journal of medical genetics. 2003 Sep;40(9):676-81	Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of Germanspeaking countries.		134370	15748	2	2003	 FH1 germline mutations occur with considerable frequency in patients with aHUS. Hypocomplementaemia is not regularly associated with a germline mutation, and factor H serum levels can even be elevated. Screening for FH1 mutations contributes to the classification of aHUS.	Control:100:controls;Case:111 German patients with atypical hemolytic uremic:syndrome										
119153	Y	hemolytic uremic syndrome	METABOLIC	MET	Hemolytic-Uremic Syndrome|Purpura, Thrombotic Thrombocytopenic|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Caprioli, J.  et al. 2003	14583443				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Human molecular genetics. 2003 Dec;12(24):3385-95	Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: theC-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.		134370	9378	2	2003	In conclusion HF1 mutations are frequent in patients with D-HUS (24%). Common polymorphisms of HF1 may contribute to D-HUS manifestation in subjects with and without HF1 mutations.	Case:101 patients with non-Shiga toxin-associated and diarrhoea negative haemolytic uraemic syndrome;Control:106:controls										
119154		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Edwards, A. O.  et al. 2005	15761121				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Science. 2005 Apr;308(5720):421-4	Complement factor H polymorphism and age-related macular degeneration.		134370	9379	2	2005	Possession of at least one histidine at amino acid 402 increased the risk of AMD 2.7-fold and accounts for 50% of the attributable risk of AMD.	Control controls in two independent case-control:populations;Case cases in two independent case-control populations										
119155	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Klein, R. J.  et al. 2005	15761122				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			Science. 2005 Apr;308(5720):385-9	Complement factor H polymorphism in age-related macular degeneration.		134370	9380	2	2005	Individuals homozygous for the risk alleles have a 7.4-fold increased likelihood of AMD (95% CI 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.	Control:50:controls;Case:96 macular degeneration cases										
119150		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	16	16q21	CETP	55553262	55575257		Zee, R. Y.  et al. 2002	12082592				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		118470	28406	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
119151	Y	atypical hemolytic uremic syndrome	OTHER	OTH	Hemolytic-Uremic Syndrome	1	1q32	CFH	194887763	194983257		Ying L et al. 1999	10577907				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			KGB	3075	Hs.363396			American journal of human genetics. 1999 Dec;65(6):1538-46	Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.		134370	3065	1	1999												
119152		Haemolytic uraemic syndrome	METABOLIC	MET	Kidney Failure, Chronic|Hemolytic-Uremic Syndrome	1	1q32	HF1	194912740	194983257		Neumann HP 2003	12960213				complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186		Austria|Germany|Italy|Switzerland	KGB	3075	Hs.363396			Journal of medical genetics. 2003 Sep;40(9):676-81	Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.		134370	3066	1	2003	 FH1 germline mutations occur with considerable frequency in patients with aHUS. Hypocomplementaemia is not regularly associated with a germline mutation, and factor H serum levels can even be elevated. Screening for FH1 mutations contributes to the classification of aHUS.											
119147		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Pallaud, C.  et al. 2001	11575217				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	French		CDC GDPinfo	1071	Hs.89538			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		118470	27388	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
119148		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Pallaud, C.  et al. 2001	11341749				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		France|Italy	CDC GDPinfo	1071	Hs.89538			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		118470	27895	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
119149		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q21	CETP	55553262	55575257		Liljedahl, U.  et al. 2003	12544508				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		118470	28373	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
119144		blood pressure, arterial	CARDIOVASCULAR	CARD		16	16q21	CETP	55553262	55575257		Sass, C.  et al. 2004	15076187				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		118470	27385	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
119145		lipid metabolism	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Pallaud, C.  et al. 2001	11714857				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		118470	27386	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
119146		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Pallaud, C.  et al. 2001	11359462				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		118470	27387	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
119141		cholesterol, HDL; cholesterol, LDL; lathosterol	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Plat, J.  et al. 2002	11952809				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European journal of clinical investigation. 2002 Apr;32(4):242-50	Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption		118470	24141	2	2002	 These findings suggest that all subjects who want to lower their cholesterol concentration, will benefit from plant stanol ester consumption, irrespective of their apoA-IV, SR-BI, HMG-CoA reductase, CETP, or apoE genotype.	Cohort 112 nonhypercholesterolemic subjects, of whom 70 consumed 3 small middle dot8-4 small middle dot0 g plant stanol esters a day for 8 weeks 	plant stanol esters									
119142		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	16	16q21	CETP	55553262	55575257		van Aalst-Cohen, E. S.  et al. 2005	16030523				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		118470	26810	2	2005			alcohol beta blockers body mass smoking (tobacco)									
119143		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Han, Z.  et al. 2002	12116231				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		Micronesia	CDC GDPinfo	1071	Hs.89538			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		118470	27384	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
119138		atherosclerosis, coronary	CARDIOVASCULAR	CARD		16	16q21	CETP	55553262	55575257		Ortlepp, J. R.  et al. 2002	12446192				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		118470	24138	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
119139		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Tobin, M. D.  et al. 2004	15039125				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European heart journal. 2004 Mar;25(6):459-67	Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study		118470	24139	2	2004	 We report associations of two polymorphisms and haplotypes at two loci with risk of MI that warrants testing in future studies. Furthermore, we demonstrate the application of a multilocus assay in the setting of a large association study and the additional benefit gained from the study of haplotypes to identify variants influencing risk of coronary heart disease.	Control:505:controls;Case:547 acute myocardial infarct cases										
119140	Y	myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Relvas, W. G.  et al. 2005	15585206				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2005 Jan;178(1):101-5	Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects.		118470	24140	2	2005	Therefore, among these genetic polymorphisms, TaqIB of CETP and MspI of apolipoprotein AI appeared to help significantly to identify diabetic individuals. In particular, the former may have an additional role in the primary prevention of coronary disease.	Control:100 non-diabetic middle aged individuals;Case:119 diabetic middle aged individuals										
119135		cholesterol; cholesterol, HDL; lipoprotein; lipids	METABOLIC	MET	Coronary Artery Disease	16	16q21	CETP	55553262	55575257		Ayyobi, A. F.  et al. 2005	16039291				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2005 Aug;181(2):363-9	Cholesterol ester transfer protein (CETP) Taq1B polymorphism influences the effect of a standardized cardiac rehabilitation program on lipid risk markers.		118470	20789	2	2005												
119136		triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Foucher, C.  et al. 2004	15608561				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Pharmacogenetics. 2004 Dec;14(12):823-9	Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes		118470	20790	2	2004	 These results indicate that elevated baseline TG levels and PPARA gene intron 7 G/G genotype were associated with TG reduction > 30% after fenofibrate treatment in patients with type 2 diabetes.	Cohort subjects with type 2 diabetes treated with micronized fenofibrate 	fenofibrate									
119137		asthma; lipids; memory impairment	IMMUNE	IMM		16	16q21	CETP	55553262	55575257		Hamdy, I.  et al. 2002	11956670				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European journal of clinical pharmacology. 2002 Apr;58(1):29-36	Allele and genotype frequencies of polymorphic DCP1, CETP, ADRB2, and HTR2A in the Egyptian population.		118470	24137	2	2002	 We have explored the frequencies of important allelic variants DCP1, CETP, ADRB2, and HTR2A among the Egyptian population focusing on the ethnic diversity in the distribution of the tested mutant alleles. Our results may help in better understanding the observed ethnic variation in angiotensin-converting enzyme inhibition and atherosclerosis therapy. It also may contribute to better characterization of interethnic differences in isoprenaline and clozapine response, which will have implications for the cost effective and rational prescribing of these drugs.	Cohort 242 urelated individuals in the Egyptian population 										
119132	N	lipoproteins	METABOLIC	MET	Hypercholesterolemia	16	16q21	CETP	55553262	55575257		Hubacek, J. A.  et al. 2001	11284423				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Cas Lek Cesk. 2001 Feb;140(3):79-81	[Polymorphisms in genes for cholesterol ester transfer protein, apolipoprotein C-III and lipoprotein lipase in children with high and low cholesterol levels] ]		118470	20786	2	2001	 Common polymorphisms in the CETP and apo CIII genes do not determine the plasma lipid levels in childhood. The carriers of the rare allele in the LPL gene could be genetically predisposed to low plasma lipid levels.	Cohort 168 children selected from opposite ends of the cholesterol distribution curve of 2000 children(82 children in high cholesterol group and 86 children in low cholesterol group) 										
119133		lipoprotein, LDL; lipids; preeclampsia; apolipoproteins	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Belo, L.  et al. 2004	14687732				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			European journal of obstetrics, gynecology, and reproductive biology. 2004 Jan;112(1):15-Sep	Apolipoprotein E and cholesteryl ester transfer protein polymorphisms in normal and preeclamptic pregnancies.		118470	20787	2	2004	 Neither of our candidate genes showed association with preeclampsia. However, apo E genotype was associated with changes in lipid and lipoprotein profiles in pregnant women.	Control:144 normal pregnant women (67 in the third trimester);Case:51 cases of preeclampsia in the third trimester of:gestation										
119134		cardiovascular disease risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Hall, W. L.  et al. 2005	16332659				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			The American journal of clinical nutrition. 2005 Dec;82(6):1260-8; quiz 1365-6	Soy-isoflavone-enriched foods and inflammatory biomarkers of cardiovascular disease risk in postmenopausal women: interactions with genotypeand equol production		118470	20788	2	2005	 Isoflavones have beneficial effects on CRP concentrations, but not on other inflammatory biomarkers of cardiovascular disease risk in postmenopausal women, and may improve VCAM-1 in an ERbeta gene polymorphic subgroup.		diet									
119129		lipoproteins	METABOLIC	MET	Metabolic Syndrome X|Dyslipidemias	16	16q21	CETP	55553262	55575257			16343038				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Physiological research. 2005	Effect of gene polymorphisms on lipoprotein levels in patients with dyslipidemia of metabolic syndrome		118470	20783	2	2005												
119130		lipids	METABOLIC	MET	Coronary Disease	16	16q21	CETP	55553262	55575257		Talmud, P. J.  et al. 2001	11533368				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Pediatrics. 2001 Sep;108(3):E50	Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study.		118470	20784	2	2001	 All genotypes were associated with clear relationships to plasma lipid levels in adults, but the effects were weaker in their children, unless stressed by body fat. atherosclerosis, cardiovascular disease, child, lipids, genetics.	Cohort 495 children and their parents (n=353) in the Columbia University BioMarkers Study 1994-1998 										
119131	Y	lipoprotein	METABOLIC	MET	Myocardial Ischemia	16	16q21	CETP	55553262	55575257		Humphries, S. E.  et al. 2002	12514935				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	non-Hispanic, Hispanic		CDC GDPinfo	1071	Hs.89538			Nutrition, metabolism, and cardiovascular diseases. 2002 Aug;12(4):163-72	Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: theColumbia University BioMarkers Study		118470	20785	2	2002	 These data confirm the role of genetic variants of CETP, LPL and APOC3 in determining the relationship between VLDL, LDL and HDL particles.	Cohort 264/95 Hispanic men (n=40) and women (n=223) and non-Hispanic Caucasian men (n=42) and women (n=53) 										
119126		nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Chronic Disease	16	16q21	CETP	55553262	55575257		Hadjadj, S.  et al. 2000	11096142				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1971-6	Lack of relationship in long-term type 1 diabetic patients between diabetic nephropathy and polymorphisms in apolipoprotein varepsilon, lipoprotein lipase and cholesteryl ester transfer protein		118470	20780	2	2000	 These results support no or only marginal effects of a genetic basis for lipid disturbances encountered in diabetic nephropathy.	Case:104/126/107 104 (21%) incipient nephropathy, 126 (25%) established nephropathy and 107 (22%) advanced:nephropathy;Control:157 patients (32%) had no nephropathy										
119127		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	16	16q21	CETP	55553262	55575257		Miltiadous, G.  et al. 2005	15864114				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Pharmacogenetics and genomics. 2005 Apr;15(4):219-25	Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.		118470	20781	2	2005												
119128		cholesterol, HDL; triglycerides	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Arai, H.  et al. 2005	16205020				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Japanese		CDC GDPinfo	1071	Hs.89538			Journal of atherosclerosis and thrombosis. 2005 ;12(5):240-50	Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000.		118470	20782	2	2005												
119122		cholesterol, HDL; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Whiting, B. M.  et al. 2005	16086925				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			American heart journal. 2005 Aug;150(2):243-50	Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.		118470	20776	2	2005	 Five SNPs predicted differences in risk-related lipids but not angiographic CAD. These discrepancies suggest that genetic determinants of CAD are complex and intermediate phenotypes are poor surrogates. These findings have important implications for future directions in genetic research.											
119123		heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia	CARDIOVASCULAR	CARD		16	16q21	CETP	55553262	55575257		Cui, H.  et al. 2005	15696473				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Chinese		CDC GDPinfo	1071	Hs.89538			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):22-6	[Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population]		118470	20777	2	2005	 The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.	Cohort 209 normal Han ethnic subjects, aged 59+/-10 years,recruited from 5 medical centers western China 										
119124		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	16	16q21	CETP	55553262	55575257		Bercovich, D.  et al. 2005	16002074				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2006 Mar;185(1):97-107	The association of common SNPs and haplotypes in the CETP and MDR1 genes with lipids response to fluvastatin in familial hypercholesterolemia.		118470	20778	2	2005	 CETP and MDR1 have independent effects on lipid changes following fluvastatin treatment. The results of this study may lead to an improved understanding of the genetic determinants of lipids response to treatment.		fluvastatin									
119118	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Blankenberg, S.  et al. 2004	15085362				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Z Kardiol. 2004 ;93 Suppl 4:IV16-23	[Genetic variation of the cholesterol ester transfer protein gene and the prevalence of coronary artery disease. The AtheroGene case control study]		118470	15747	2	2004	 CETP genotypes have an significant but moderate impact on systemic HDL-cholesterol concentration. The A-allel of the CETP/C-629A polymorphism is associated with a reduced CAD risk. This risk reduction is probably mediated by elevated HDL-concentration. Whether genotyping of the CETP/C-629A polymorphism provides information over and above that obtained by HDL-cholesterol measurement has to be further investigated in various prospective studies.	Case:1,214 patients with documented coronary artery disease;Control:754 population controls										
119119		cholesterol, HDL; lipoprotein	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Talmud, P. J.  et al. 2002	12174215				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Annals of human genetics. 2002 Mar;66(Pt 2):111-24	Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men.		118470	17977	2	2002	Thus despite the key roles played by these enzymes in HDL metabolism, variation at these loci, at least as detected by these common genotypes, contributes minimally to the variance in HDL-C and apoAI levels in healthy men, highlighting the polygenic and multifactorial control of HDL-C.	Cohort 2773 healthy middle-aged men participating in the second Northwick Park Heart Study 	alcohol smoking (tobacco)									
119120		cholesterol, HDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Inazu, A.  et al. 2001	11322655			promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Japanese		CDC GDPinfo	1071	Hs.89538			Journal of human genetics. 2001 ;46(4):172-7	Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population.		118470	18032	2	2001	These genetic attributes may be among the many factors that contribute to the relatively higher serum HDL-C levels in Japanese subjects.	Cohort 299 men from the general population Japan 										
119115	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Zheng, K.  et al. 2003	12579494				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Chinese	China	CDC GDPinfo	1071	Hs.89538			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):23-6	[Study on the association of cholesteryl ester transfer protein gene mutations with the susceptibility to coronary atherosclerotic heart disease]		118470	15744	2	2003	 IVS14A and 451Q mutants of CETP gene were rare in Chinese population and 442G mutant gene was possibly one of the susceptibility factors to CHD in Chinese.	Case:203 Chinese coronary atherosclerotic heart disease:patients;Control:209 unrelated control individuals										
119116	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Zheng, K. Q.  et al. 2004	14732872	(L296 Q)			Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		China	CDC GDPinfo	1071	Hs.89538			Acta biochimica et biophysica Sinica. 2004 Jan;36(1):33-6	A novel missense mutation (L296 Q) in cholesteryl ester transfer protein gene related to coronary heart disease.		118470	15745	2	2004	All these results suggest that the Q(296) mutation in CETP gene was closely related to CHD, and the identification of new mutations in the CETP gene will afford the opportunity to investigate the relationship between CETP gene and CHD.	Case:203 coronary heart disease patients;Control:209 healthy volunteers										
119117		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Curb, J. D.  et al. 2004	14967821				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Journal of lipid research. 2004 May;45(5):948-53	A prospective study of HDL cholesterol and cholesteryl ester transfer protein gene mutations and the risk of coronary heart disease in the elderly		118470	15746	2	2004	These data indicate that HDL-C remains an important risk factor for CHD in the elderly. Whether a CETP mutation offers additional protection against CHD warrants further investigation.	Cohort 2,340 men aged 71-93 in the Honolulu Heart Program Hawaii 										
119112	Y	cholesterol, HDL	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Hodoglugil, U.  et al. 2005	15996208				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Turkish	Turkey	CDC GDPinfo	1071	Hs.89538			Clinical genetics. 2005 Aug;68(2):118-27	An interaction between the TaqIB polymorphism of cholesterol ester transfer protein and smoking is associated with changes in plasma high-density lipoprotein cholesterol levels in Turks.		118470	9377	2	2005			smoking (tobacco)									
119113		atherosclerosis, coronary	CARDIOVASCULAR	CARD		16	16q21	CETP	55553262	55575257		Jap, T. S.  et al. 2002	11887180			intron	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Metabolism:  clinical and experimental. 2002 Mar;51(3):394-7	A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia.		118470	15742	2	2002	In conclusion, a novel intron 1 splice site mutation in the CETP gene in 1 patient with hyperalphalipoproteinemia and D442G allelic frequency of 4.46% was found among a normal population in Taiwan.	Cohort 224 random Han Chinese subjects China 										
119114	Y	cholesterol, HDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Choi, H. S.  et al. 2002	12164095				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Korean		CDC GDPinfo	1071	Hs.89538			The Korean journal of internal medicine. 2002 Jun;17(2):83-7	A common mutation in cholesteryl ester transfer protein gene and plasma HDL cholesterol level before and after hormone replacement therapy in Korean postmenopausal women.		118470	15743	2	2002	 D442G mutation is common in Korean postmenopausal women and it is associated with increased plasma HDL cholesterol level. HRT for postmenopausal women increased plasma HDL cholesterol level in similar amounts regardless of the presence or absence of D442G mutation.	Cohort 228 women aged over 40 years 	hormone replacement therapy									
119109		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Chaaba, R.  et al. 2004	15382463				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Tunis Med. 2004 Mar;82(3):282-8	[Role of cholesteryl ester transfer protein activity and genetic polymorphism in ischemic heart disease in type 2 diabetic patients]		118470	9374	2	2004	An association between the presence of the B2B2 genotype, decreased CETP activity and increased of plasma HDL-C was observed in healthy subjects but not in diabetics with coronary artery disease.	Control:92 healthy subjects;Case:93 non insulino-dependant diabetics with coronary artery disease										
119110		cholesterol, LDL; lipoprotein	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Lucchi, T.  et al. 2005	15859394	I405V			Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Annali italiani di medicina interna. 2005 Jan-Mar;20(1):45-50	[I405V polymorphism of the cholesteryl ester transfer protein gene in young and very old individuals]		118470	9375	2	2005	Subjects with the V/V genotype had lower serum concentrations of CETP. The frequency of this genotype in the very old was more than double that in the young population. Young adults with the V/V genotype had a less atherogenic lipoprotein pattern [lower total and LDL cholesterol levels, lower apolipoprotein (Apo) B levels, and a lower Apo B/Apo A-I ratio] than those with the I/V or I/I genotypes. The very old subjects, particularly those with the V/V genotype, had larger LDL than the young adults. The prevalence of clinical endpoints was much lower among the very old subjects with the V/V genotype.	Cohort 100 healthy young adults (median age 31 years) Cohort 100 very old subjects (median age 89 years) 										
119111		cholesterol; triglycerides; diabetes, type 2; cholesterol, LDL; lipoproteins; indulinh	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Jiang, T.  et al. 2005	15952120				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):298-301	[Association between insulin resistance and cholesteryl ester transfer protein gene polymorphism in type 2 diabetes mellitus]		118470	9376	2	2005	 The CETP-TaqIB genotype is independently associated with insulin resistance and lipid metabolism. It may be an important risk factor of insulin resistance in type 2 diabetes.											
119106	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	16	16q21	CETP	55553262	55575257		Freeman, D. J.  et al. 2003	14563342				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		Scotland	CDC GDPinfo	1071	Hs.89538			European heart journal. 2003 Oct;24(20):1833-42	A polymorphism of the cholesteryl ester transfer protein gene predicts cardiovascular events in non-smokers in the West of Scotland Coronary Prevention Study.	rs708272	118470	9370	2	2003	 The association between CETP TaqIB genotype and cardiovascular risk is primarily in non-smokers, is not fully explained by effects on HDL levels or LDL size, and the benefit of pravastatin treatment was not influenced by this polymorphism.	Control:1,108 controls from the West of Scotland Coronary Prevention Study;Case:498 cardiovascular disease patients from the West of Scotland Coronary Prevention Study	pravastatin smoking (tobacco)									
119107	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	16	16q21	CETP	55553262	55575257		Fidani, L.  et al. 2004	15036597				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Neuroscience letters. 2004 Mar;357(2):152-4	An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease.		118470	9372	2	2004	No statistically significant differences have emerged with respect to either genotype or allele frequencies between the AD and control populations. CETP TaqI B did not interact significantly with either APOE epsilon4 or LPLS447X, in this study.	Case:102 clinically diagnosed late onset AD patients;Control:97 spousal controls										
119108	N	hyperlipidemia	METABOLIC	MET	Hyperlipidemias	16	16q21	CETP	55553262	55575257		Zhao, Y.  et al. 2004	15098490				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Wei sheng yan jiu. 2004 Jan;33(1):94-7	[Relationship between gene polymorphism at CETP locus and hyperlipidemia in the middle-aged and the elder]		118470	9373	2	2004	 The study could not draw the conclusion that the polymorphism at CETP locus was associated with hyperlipidemia in the middle-aged and the elder in Beijing.	Cohort 421 population-based sample individuals Xicheng district, Beijing 										
119103		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	16	16q21	CETP	55553262	55575257		Liu, S.  et al. 2002	11888533				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2002 Apr;161(2):469-74	A prospective study of TaqIB polymorphism in the gene coding for cholesteryl ester transfer protein and risk of myocardial infarction in middle-aged men		118470	9367	2	2002	 In this prospective study of apparently healthy middle-aged US men, carriers of the B2 allele of the TaqIB in the CETP gene had higher HDL concentrations, but did not have lower risk of MI. CONDENSED ABSTRACT: In a cohort of apparently healthy middle-aged US men, the relation between CETP genotype and MI risk was prospectively examined in a nested case-control study. After adjusting for coronary risk factors (but not HDL), the 9-year risk of developing MI did not differ significantly by genotype. Comparing to the B1B1 genotype, the relative risks for future MI were 1.12 (95% CI 0.74-1.70) for the B1B2 genotype and 0.95 (95% CI 0.54-1.66) for the B2B2 genotype.	Case:384 men out of 14917 from the men enrolled in the Physicians' Health Study who susequently developed a first myocardial infarction;Control:384 age and smoking matched participants who remained free of cardiovascular disease during follow up										
119104		cholelithiasis	METABOLIC	MET	Cholelithiasis	16	16q21	CETP	55553262	55575257		Zhang, M.  et al. 1999	12205929				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Hua xi yi ke da xue xue bao. 1999 Mar;30(1):68-71	[Polymorphism at cholesteryl ester transfer protein gene loci in patients with gallstone]		118470	9368	2	1999	The results suggest that B1 allele is the major gene in the patients with gallstones, and B2 allele is more frequently revealed in the controls.	Case:104 patients subjected to cholecystectomy for symptomatic gallstone disease;Control:68 healthy controls										
119100		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	16	16q21	CETP	55553262	55575257		Fidani L 2004	15036597				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Neuroscience letters. 2004 Mar;357(2):152-4	An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease.		118470	1232	1	2004	No statistically significant differences have emerged with respect to either genotype or allele frequencies between the AD and control populations. CETP TaqI B did not interact significantly with either APOE epsilon4 or LPLS447X, in this study.	Case:102 clinically diagnosed late onset AD patients;Control:97 spousal controls										
119101	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Loss	16	16q21	CETP	55553262	55575257		Heilbronn LK et al. 2002	11996962				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Atherosclerosis. 2002 Jun;162(2):419-24	Association between HDL-cholesterol and the Taq1B polymorphism in the cholesterol ester transfer protein gene in obese women.		118470	1233	1	2002												
119102	Y	cholesterol, HDL; cholesteryl ester transfer protein	METABOLIC	MET	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Le Goff, W.  et al. 2002	11888509	(-971G/A)		promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2002 Apr;161(2):269-79	A novel cholesteryl ester transfer protein promoter polymorphism (-971G/A) associated with plasma high-density lipoprotein cholesterol levels. Interaction with the TaqIB and -629C/A polymorphisms.		118470	9366	2	2002	Our findings strongly suggest the existence of as yet unidentified functional polymorphisms in the CETP gene promoter that could explain the association between specific polymorphisms of the CETP gene and both plasma HDL-C and CETP concentrations.	Cohort the Etude Cas-Temoins de l'Infarctus du Myocarde (control-myocardial infarction cases) cohort 										
119097		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		van Venrooij FV 2003	12663600				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			Y Wang	1071	Hs.89538	Complications		Diabetes care. 2003 Apr;26(4):1216-23	Common cholesteryl ester transfer protein gene polymorphisms and the effect of atorvastatin therapy in type 2 diabetes.		118470	1229	1	2003	 In conclusion, the B1B1/CC carriers of the CETP polymorphisms have a more atherogenic lipid profile, including low HDL, and they respond better to statin therapy. These results favor the hypothesis that CETP polymorphisms modify the effect of statin treatment and may help to identify patients who will benefit most from statin therapy.											
119098		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Kawasaki I 2002	11872695				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Japanese	Japan	Y Wang	1071	Hs.89538	Complications		Diabetes. 2002 Mar;51(3):871-4	Relationship between TaqIB cholesteryl ester transfer protein gene polymorphism and macrovascular complications in Japanese patients with type 2 diabetes.		118470	1230	1	2002												
119099	N	preeclamptic pregnancies	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Belo L 2004	14687732				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			European journal of obstetrics, gynecology, and reproductive biology. 2004 Jan;112(1):15-Sep	Apolipoprotein E and cholesteryl ester transfer protein polymorphisms in normal and preeclamptic pregnancies.		118470	1231	1	2004	 Neither of our candidate genes showed association with preeclampsia. However, apo E genotype was associated with changes in lipid and lipoprotein profiles in pregnant women.	Control:144 normal pregnant women (67 in the third trimester);Case:51 cases of preeclampsia in the third trimester of:gestation										
119092	Y	cardiovascular events in non-smokers	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	16	16q21	CETP	55553262	55575257	0.03	Freeman DJ 2003	14563342	CETP TaqIB	intronic	unknown	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	West of Scotaland Coronary Prevention Study	Scotland	KGB	1071	Hs.89538			European heart journal. 2003 Oct;24(20):1833-42	A polymorphism of the cholesteryl ester transfer protein gene predicts cardiovascular events in non-smokers in the West of Scotland Coronary Prevention Study.	rs708272	118470	1224	1	2003	 The association between CETP TaqIB genotype and cardiovascular risk is primarily in non-smokers, is not fully explained by effects on HDL levels or LDL size, and the benefit of pravastatin treatment was not influenced by this polymorphism.	Control:1,108 controls from the West of Scotland Coronary Prevention Study;Case:498 cardiovascular disease patients from the West of Scotland Coronary Prevention Study	pravastatin smoking (tobacco)									
119093	Y	low high-density lipoprotein cholesterol concentration	OTHER	OTH		16	16q21	CETP	55553262	55575257		Al-Daghri NM 2003	12773093				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Clin Sci (Lond).. 2003 Oct;105(4):467-72	Association between the cholesteryl ester transfer protein TaqI-detectable B polymorphism and low high-density lipoprotein cholesterol concentration in Saudis.		118470	1225	1	2003												
119095	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257	0.0001	Klerkx et al. 2003	12499392	-629C->A		5'promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Males with CAD			1071	Hs.89538	CETP concentration		Human molecular genetics. 2003 Jan;12(2):111-23	Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629C->A polymorphism and a novel promotor variant are independently associated with CETP concentration		118470	1227	1	2003												
119088	Y	diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Bernard S et al. 1998	9469586				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Journal of lipid research. 1998 Jan;39(1):59-65	Association between plasma HDL-cholesterol concentration and Taq1B CETP gene polymorphism in non-insulin-dependent diabetes mellitus.		118470	1220	1	1998												
119089		cardiovascular	CARDIOVASCULAR	CARD	Myocardial Infarction	16	16q21	CETP	55553262	55575257		Corbex M et al. 2000	10861897				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Genetic epidemiology. 2000 Jul;19(1):64-80	Extensive association analysis between the CETP gene and coronary heart disease phenotypes reveals several putative functional polymorphisms and gene-environment interaction.		118470	1221	1	2000												
119090	Y	macroangiopathy	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Meguro S et al. 2001	11369008				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Japanese	Japan	KGB	1071	Hs.89538			Atherosclerosis. 2001 May;156(1):151-6	Cholesteryl ester transfer protein polymorphism associated with macroangiopathy in Japanese patients with type 2 diabetes.		118470	1222	1	2001												
119091	Y	hypercholesterolemia	METABOLIC	MET	Cardiovascular Diseases|Hyperlipoproteinemia Type II	16	16q21	CETP	55553262	55575257		Carmena-Ramon R et al. 2001	11398140				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		Spain	KGB	1071	Hs.89538			Metabolism:  clinical and experimental. 2001 Jun;50(6):651-6	Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and plasma lipoprotein levels in familial hypercholesterolemia.		118470	1223	1	2001												
119085	Y	high plasma CETP activity.	OTHER	OTH	Coronary Disease	16	16q21	CETP	55553262	55575257		Kakko S et al. 1998	9543093				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Atherosclerosis. 1998 Feb;136(2):233-40	R451Q mutation in the cholesteryl ester transfer protein (CETP) gene is associated with high plasma CETP activity.		118470	1217	1	1998												
119086		lipoproteins and plasma lipids	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Noone E et al. 2000	11029971				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			The British journal of nutrition. 2000 Aug;84(2):203-9	Effect of postprandial lipaemia and Taq 1B polymorphism of the cholesteryl ester transfer protein (CETP) gene on CETP mass activity associated lipoproteins and plasma lipids.		118470	1218	1	2000												
119087	Y	plasma high-density lipoprotein cholesterol levels	METABOLIC	MET	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257		Le Goff W et al. 2002	11888509			promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Atherosclerosis. 2002 Apr;161(2):269-79	A novel cholesteryl ester transfer protein promoter polymorphism (-971G/A) associated with plasma high-density lipoprotein cholesterol levels. Interaction with the TaqIB and -629C/A polymorphisms.		118470	1219	1	2002	Our findings strongly suggest the existence of as yet unidentified functional polymorphisms in the CETP gene promoter that could explain the association between specific polymorphisms of the CETP gene and both plasma HDL-C and CETP concentrations.	Cohort the Etude Cas-Temoins de l'Infarctus du Myocarde (control-myocardial infarction cases) cohort										
119080	Y	exceptional longevity	AGING	AGE	Cardiovascular Diseases|Hypertension|Metabolic Syndrome X	16	16q21	CETP	55553262	55575257	P =.001	Barzilai N 2003	14559957	I 405 V		coding sequence	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Ashkenazi Jews		KGB	1071	Hs.89538	HDL and LDL particle sizes		JAMA. 2003 Oct;290(15):2030-40			118470	1212	1	2003	 Individuals with exceptional longevity and their offspring have significantly larger HDL and LDL particle sizes. This phenotype is associated with a lower prevalence of hypertension, cardiovascular disease, the metabolic syndrome, and increased homozygosity for the I405V variant in CETP. These findings suggest that lipoprotein particle sizes are heritable and promote a healthy aging phenotype.	Case:429; Control:847										
119082	Y	low CETP activity	OTHER	OTH	Coronary Disease	16	16q21	CETP	55553262	55575257		Tamminen M et al. 1996	8830936			3' untranslated	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Atherosclerosis. 1996 Aug;124(2):237-47	A polymorphic site in the 3' untranslated region of the cholesteryl ester transfer protein (CETP) gene is associated with low CETP activity.		118470	1214	1	1996												
119083	Y	cholesteryl ester transfer protein plasma lipid levels	OTHER	OTH	Coronary Disease	16	16q21	CETP	55553262	55575257		Corella D et al. 2000	10998464				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Spanish	Spain	KGB	1071	Hs.89538			Atherosclerosis. 2000 Oct;152(2):367-76	Association of TaqIB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population.		118470	1215	1	2000												
119076	N	carboxylesterase 2 activity	NORMALVARIATION	NV		16	16q22.1	CES2	65525847	65536495		Wu, M. H.  et al. 2004	15475733				Carboxylesterase 2 (intestine, liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003869.4			CDC GDPinfo	8824	Hs.282975			Pharmacogenetics. 2004 Sep;14(9):595-605	Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene.		605278	20774	2	2004	The 5'-UTR-363 SNP is located in one of the three promoters of CES2. However, we did not observe significant differences in CES2 activities (irinotecan and procaine hydrolysis) among individuals with different haplotypes.	Cohort African-Americans, Asian-Americans and European-Americans.samples from the SNP Consortium Cohort 78 normal individuals 										
119078		cancer	CANCER	CAN		16	16q22.1	CES2	65525847	65536495		Mathijssen, R. H.  et al. 2003	12960109				Carboxylesterase 2 (intestine, liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003869.4			CDC GDPinfo	8824	Hs.282975			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		605278	27383	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
119079		HDL Cholesterol	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Knoblauch H 2002	12023990				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	German		TJB	1071	Hs.89538			Human molecular genetics. 2002 Jun;11(12):1477-85			118470	1211	1	2002												
119073	N	breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male	22	22q11	CHEK2	27413730	27467822		Offit, K.  et al. 2003	12529183	1100delC			Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3		New York	CDC GDPinfo	11200	Hs.291363			BMC medical genetics [electronic resource]. 2003 J	Frequency of CHEK2*1100delC in New York breast cancer cases and controls.		604373	15784	2	2003	 The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds.	Control:1,665 healthy New York volunteers;Case:300 cases of breast cancer North America										
119074		cancer	CANCER	CAN		16	16q13-q22.1	CES1	54394264	54424576		Mathijssen, R. H.  et al. 2003	12960109				Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025195.1			CDC GDPinfo	1066	Hs.558865			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		114835	26809	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
119075	N	cancer	CANCER	CAN		16	16q22.1	CES2	65525847	65536495		Charasson, V.  et al. 2004	15592324				Carboxylesterase 2 (intestine, liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003869.4			CDC GDPinfo	8824	Hs.282975			Clinical pharmacology and therapeutics. 2004 Dec;76(6):528-35	Pharmacogenetics of human carboxylesterase 2, an enzyme involved in the activation of irinotecan into SN-38.		605278	15741	2	2004	 The hCE2 gene presents several polymorphisms, none of which seems to be involved in significant variations in protein activity and, therefore, in irinotecan activation.	Cohort 115 human DNA samples 										
119070		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	20	20q13.1	CEBPB	48240782	48242619		Wu J 2003	12496392				CCAAT/enhancer binding protein (C/EBP), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005194.2			Y Wang	1051	Hs.517106			Journal of immunology (Baltimore, Md :  1950). 2003 Jan;170(1):132-8	A novel polymorphic CAAT/enhancer-binding protein beta element in the FasL gene promoter alters Fas ligand expression: a candidate background gene in African American systemic lupus erythematosus patients.		189965	1210	1	2003												
119071	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q13.3	CELSR1	45135394	45311731		Georgieva, L.  et al. 2003	12782967				Cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014246.1		Bulgaria|Great Britain	CDC GDPinfo	9620	Hs.252387			Psychiatric genetics. 2003 Jun;13(2):103-6	Genetic variation in the seven-pass transmembrane cadherin CELSR1: lack of association withschizophrenia.		604523	15738	2	2003	 We conclude that variations in the nine ectodomains of CELSR1 do not increase susceptibility to schizophrenia.	Control:157:controls;Case:180 schizophrenic patients:UK										
119072		carboxylesterase 2 activity	UNKNOWN	UNK		16	16q13-q22.1	CES1	54394264	54424576		Wu, M. H.  et al. 2004	15475733				Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025195.1			CDC GDPinfo	1066	Hs.558865			Pharmacogenetics. 2004 Sep;14(9):595-605	Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human carboxylesterase 2 gene.		114835	9365	2	2004	The 5'-UTR-363 SNP is located in one of the three promoters of CES2. However, we did not observe significant differences in CES2 activities (irinotecan and procaine hydrolysis) among individuals with different haplotypes.	Cohort African-Americans, Asian-Americans and European-Americans.samples from the SNP Consortium Cohort 78 normal individuals 										
119066		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	19	19q13.1	CEBPA	38482775	38485160		Doorn-Khosrovani S, et al 2003	12692518				CCAAT/enhancer binding protein (C/EBP), alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004364			CDC GDPinfo	1050	Hs.643434			The hematology journal. 2003 ;4(1):31-40	Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML		116897	15736	2	2002	In contrast, low CEBPA expression in AML with intermediate-risk karyotype (n=6) seemed to be associated with poor prognosis (not significant). By including this newly developed PCR-assay, we define a subgroup of good-risk patients within the heterogeneous intermediate-risk group of AML.	Cohort 277 de novo AMLs 										
119068		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.1	CEBPA	38482775	38485160		Boissel, N.  et al. 2005	16046528				CCAAT/enhancer binding protein (C/EBP), alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004364			CDC GDPinfo	1050	Hs.643434			Blood. 2005 Nov;106(10):3618-20	Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype.		116897	16714	2	2005												
119069		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.1	CEBPA	38482775	38485160		Schnittger, S.  et al. 2005	16076867				CCAAT/enhancer binding protein (C/EBP), alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004364			CDC GDPinfo	1050	Hs.643434			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		116897	18298	2	2005												
119062		colon cancer	CANCER	CAN	Carcinoma|Colonic Neoplasms|Liver Neoplasms|Intestinal Polyps|Colonic Polyps|Disease Progression|	5	5q31-q33	Cdx1	149526536	149544314		Domon-Dell C 2003	12970739				Caudal type homeo box transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001804			KGB	1044	Hs.1545			Oncogene. 2003 Sep;22(39):7913-21	Cdx1 homeobox gene during human colon cancer progression.		600746	1208	1	2003												
119064		bone density	METABOLIC	MET	Osteoporosis|Body Weight	19	19q13.2	CEACAM1	47703297	47724479		Lei, S. F.  et al. 2005	15917161				Carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001712.3	Chinese		CDC GDPinfo	634	Hs.512682			Maturitas. 2005 Jun;51(2):199-206	Bone mineral density and five prominent candidate genes in Chinese men: associations, interactioneffects and their implications.		109770	20773	2	2005	The results suggest that the AHSG gene is associated with the spine BMD in Chinese men. The present study represents the first effort to simultaneously investigate the effects of single gene locus as well as gene-by-gene interactions of multiple genes on BMD variation in Chinese men.	Cohort 258 unrelated healthy Chinese men aged 50-80 years 										
119065		acute myeloid leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.1	CEBPA	38482775	38485160		Preudhomme C et al. 2002	12351377				CCAAT/enhancer binding protein (C/EBP), alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004364		United States|France|Great Britain	KGB	1050	Hs.643434			Blood. 2002 Oct;100(8):2717-23	Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA).		116897	1209	1	2002												
119058		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	CDSN	31190848	31196202		Chang, Y. T.  et al. 2003	12653732				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3	Chinese	China|Taiwan	CDC GDPinfo	1041	Hs.556031			The British journal of dermatology. 2003 Mar;148(3):418-23	A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.		602593	15733	2	2003	 HLA-Cw6 remains the most significant susceptibility gene in Chinese patients with psoriasis. However, the role of the CDSN gene in the pathogenesis of psoriasis deserves further scrutiny.	Case:105 Chinese patients with psoriasis vulgaris;Control:160 control subjects of similar ages										
119059		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Ameen, M.  et al. 2005	15953084				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3	Japanese		CDC GDPinfo	1041	Hs.556031			Clinical and experimental dermatology. 2005 Jul;30(4):414-8	Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations.		602593	15734	2	2005												
119061		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Allen, M.  et al. 2005	15654960				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3			CDC GDPinfo	1041	Hs.556031			The Journal of investigative dermatology. 2005 Jan;124(1):103-6	The Major Psoriasis Susceptibility Locus PSORS1 Is not a Risk Factor for Late-Onset Psoriasis		602593	20772	2	2005	These data suggest that the exclusion of LOP subjects from case-control studies will aid further delineation of the PSORS1 locus. Future genome-wide studies will be required to identify loci conferring risk for late-onset disease.	Case:145 patients with late-onset psoriasis;Control:309 normal controls										
119055		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Tazi Ahnini R et al. 1999	10332047				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3			KGB	1041	Hs.556031			Human molecular genetics. 1999 Jun;8(6):1135-40	Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis.		602593	1207	1	1999												
119056	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Hui, J.  et al. 2002	12366786				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3	Japanese	Japan	CDC GDPinfo	1041	Hs.556031			Tissue antigens. 2002 Jul;60(1):77-83	Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis		602593	9360	2	2002	These findings indicate that CDSN is not a major psoriasis susceptibility gene.	Case:101 Japanese psoriasis patients;Control:166 Japanese subjects without psoriasis										
119057	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Orru, S.  et al. 2002	12472658				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3		Italy	CDC GDPinfo	1041	Hs.556031			Tissue antigens. 2002 Oct;60(4):292-8	Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).		602593	15732	2	2002	Our study showed that these CDSN haplotypes are very stable and well-conserved in the Sardinian population. The CDSN2 haplotype was found to be associated with susceptibility to psoriasis. The association did not depend upon any one of the intragenic SNPs taken separately. At the HLA-C locus, the Cw6 and Cw7 alleles were dragged along by linkage disequilibrium with the CDSN2 haplotype and only revealed a trend towards association with the disease. Therefore, the intragenic SNPs of the CDSN gene and the HLA-Cw6 and Cw7 alleles are not directly involved in susceptibility to psoriasis. However, the strong association of the CDSN2 haplotype suggests a possible role for the CDSN gene and its chromosome region in susceptibility to psoriasis.	Case psoriasis patients:Sardinia, Italy;Control:controls		CDSN	CDSN2 haplotype	HLA-C	Cw6 and Cw7			Y		Psoriasis
119052		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Starinsky, S.  et al. 2004	15523694				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3		Israel	CDC GDPinfo	1030	Hs.72901			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		600431	25875	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
119053		melanoma, sporadic primary	CANCER	CAN	Melanoma	1	1p32	CDKN2C	51206195	51212897		Kumar, R.  et al. 2001	11668523				Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001262.2			CDC GDPinfo	1031	Hs.525324			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):388-93	A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.		603369	25876	2	2001	The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls.	Case:229 melanoma cases;Control:235 controls not otherhwise specified in abstract										
119054	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Orru S et al. 2002	12472658				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3		Italy	KGB	1041	Hs.556031			Tissue antigens. 2002 Oct;60(4):292-8	Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).		602593	1206	1	2002	Our study showed that these CDSN haplotypes are very stable and well-conserved in the Sardinian population. The CDSN2 haplotype was found to be associated with susceptibility to psoriasis. The association did not depend upon any one of the intragenic SNPs taken separately. At the HLA-C locus, the Cw6 and Cw7 alleles were dragged along by linkage disequilibrium with the CDSN2 haplotype and only revealed a trend towards association with the disease. Therefore, the intragenic SNPs of the CDSN gene and the HLA-Cw6 and Cw7 alleles are not directly involved in susceptibility to psoriasis. However, the strong association of the CDSN2 haplotype suggests a possible role for the CDSN gene and its chromosome region in susceptibility to psoriasis.	Case psoriasis patients:Sardinia, Italy;Control:controls		CDSN	CDSN2 haplotype	HLA-C	Cw6 and Cw7			Y		Psoriasis
119049		uveal melanoma	CANCER	CAN	Melanoma|Uveal Neoplasms	9	9p21	CDKN2B	21992901	21999312		Hearle, N.  et al. 2003	12556369				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDPinfo	1030	Hs.72901			Investigative ophthalmology & visual science. 2003 Feb;44(2):458-62	Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma.		600431	24134	2	2003	 These findings suggest that less than 2% of cases of uveal melanoma can be ascribed to germline mutations in BRCA2, P16(INK4A), P14(ARF), or P15. It is likely that mutations in other genes contribute to an inherited predisposition to uveal melanoma.	Cohort 385 patients with uveal melanoma 										
119050		melanoma, sporadic primary	CANCER	CAN	Melanoma	9	9p21	CDKN2B	21992901	21999312		Kumar, R.  et al. 2001	11668523				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDPinfo	1030	Hs.72901			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):388-93	A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.		600431	24135	2	2001	The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls.	Case:229 melanoma cases;Control:235 controls not otherhwise specified in abstract										
119051		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	9	9p21	CDKN2B	21992901	21999312		Soto Martinez, J. L.  et al. 2005	15960923				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDPinfo	1030	Hs.72901			Clinical & translational oncology. 2005 May;7(4):156-64	Mutation and homozygous deletion analyses of genes that control the G1/S transition of the cell cycle in skin melanoma: p53, p21, p16 and p15.		600431	24136	2	2005	 Our results suggest that these genes are involved in melanoma tumorigenesis; but perhaps not in the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas need to be studied.											
119046	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Kibel, A. S.  et al. 2003	12727815				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDPinfo	1027	Hs.238990			Cancer research. 2003 May;63(9):2033-6	CDKN1A and CDKN1B Polymorphisms and Risk of Advanced Prostate Carcinoma		600778	20763	2	2003	These results suggest that in a European-American population, CDKN1A and CDKN1B variants are associated with advanced prostate cancer. Analysis of CDKN1A and/or CDKN1B genotypes may prove useful in determining which patients are at risk for developing advanced prostate carcinoma and therefore would gain the most from aggressive screening, prophylaxis, and/or treatment.	Control:106:controls;Case:96 European-American prostate cancer cases										
119047		body mass; diabetes, type 2; glucose; birth weight	METABOLIC	MET	Diabetes Mellitus, Type 2|Birth Weight	11	11p15.5	CDKN1C	2861387	2863571		Nielsen, E. M.  et al. 2005	15821902				Cyclin-dependent kinase inhibitor 1C (p57, Kip2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000076.1		Denmark	CDC GDPinfo	1028	Hs.106070			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):353-61	Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits.		600856	20764	2	2005												
119048	N	Glioma	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312	n	Gao L 1997	9815774	?			Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			KGB	1030	Hs.72901			Clinical cancer research. 1997 Jun;3(6):977-81			600431	1205	1	1997												
119042		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Chang BL 2004	15026335				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			KGB	1027	Hs.238990			Cancer research. 2004 Mar;64(6):1997-9	A polymorphism in the CDKN1B gene is associated with increased risk of hereditary prostate cancer.		600778	1201	1	2004												
119043	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Gonzalez, P.  et al. 2004	15061869			promoter	Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDPinfo	1027	Hs.238990			BMC biology [electronic resource]. 2004 Apr;2(1):5	A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction.		600778	9352	2	2004	 These data suggest that -838A is associated with reduced p27kip1 promoter activity and increased risk of myocardial infarction.	Case myocardial infarct cases;Control healthy controls										
119044	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Mouth Neoplasms|Disease Progression	12	12p13.1-p12	CDKN1B	12761575	12766570		Li, G.  et al. 2004	15217930				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDPinfo	1027	Hs.238990			Clinical cancer research. 2004 Jun;10(12 Pt 1):3996-4002	Association between the V109G polymorphism of the p27 gene and the risk and progression of oral squamous cell carcinoma.		600778	9353	2	2004	 Our findings suggest that the p27 109GG variant genotype may not play a major role in the etiology of SCCHN but may be associated with an increased risk in at-risk subgroups or subsets of SCCHN, particularly oral cavity cancer and possibly tumor progression. Larger studies with oral squamous cell carcinoma are needed to verify these findings.	Control:1,224 cancer-free controls frequency matched to the cases by age (+/-5 years), sex, and smoking status;Case:713 hospital-based oral squamous cell carcinoma of the head and nceck cases	alcohol									
119039		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Lee, J. E.  et al. 2004	14764039				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Korean	Korea	CDC GDPinfo	1026	Hs.370771			International journal of gynecological cancer. 2004 Jan-Feb;14(1):118-25	Gene-gene and gene-environmental interactions of p53, p21, and IRF-1 polymorphisms in Korean women with cervix cancer		116899	11954	2	2004	 We found that the level of education, the age at first intercourse, and the number of children were independent risk factors in cervix carcinogenesis. The specific combinations of p53, p21, and IRF-1 gene-gene and gene-environmental interactions were significantly noted in the cervix carcinogenesis of Korean women.	Case:185 Korean cervical cancer patients;Control:345 normal healthy women	age at first sexual intercourse parity									
119040		esophageal cancer	CANCER	CAN	Esophageal Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Xi, Y. G.  et al. 2002	12400017				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Chinese	China	CDC GDPinfo	1026	Hs.370771			Oncogene. 2002 Oct;21(50):7745-8	Esophageal cancer in Chinese population: nopolymorphism in codon 149 of P21(Waf1/Cip1) cyclin dependent kinase gene		116899	15711	2	2002	In conclusion, no polymorphism exists in codon 149 of P21(Waf1/Cip1). It is not appropriate to use it as a susceptible site of the gene in cancer study.	Case:80 esophageal cancer patients;Control:80 normal blood donors										
119041		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Soto Martinez, J. L.  et al. 2005	15960923				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Clinical & translational oncology. 2005 May;7(4):156-64	Mutation and homozygous deletion analyses of genes that control the G1/S transition of the cell cycle in skin melanoma: p53, p21, p16 and p15.		116899	15730	2	2005	 Our results suggest that these genes are involved in melanoma tumorigenesis; but perhaps not in the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas need to be studied.											
119036	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Li, G.  et al. 2005	15878916				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Carcinogenesis. 2005 Sep;26(9):1596-602	Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck		116899	9350	2	2005	Our results suggest that the presence of these two p21 polymorphisms may be a marker of genetic susceptibility to SCCHN.	Control:1,229 cancer-free controls frequency matched by age, sex and ethnicity;Case:716 patients newly diagnosed with squamous cell carcinoma of the head and neck										
119037	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Kibel, A. S.  et al. 2003	12727815				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Cancer research. 2003 May;63(9):2033-6	CDKN1A and CDKN1B Polymorphisms and Risk of Advanced Prostate Carcinoma		116899	9351	2	2003	These results suggest that in a European-American population, CDKN1A and CDKN1B variants are associated with advanced prostate cancer. Analysis of CDKN1A and/or CDKN1B genotypes may prove useful in determining which patients are at risk for developing advanced prostate carcinoma and therefore would gain the most from aggressive screening, prophylaxis, and/or treatment.	Control:106:controls;Case:96 European-American prostate cancer cases										
119038	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Lai, K. C.  et al. 2005	16289646				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2		Taiwan	CDC GDPinfo	1026	Hs.370771			European journal of surgical oncology. 2005 Dec;31(10):1135-40	Association of genetic polymorphisms of MK, IL-4, p16, p21, p53 genes and human gastric cancer in Taiwan.		116899	9359	2	2005	 Genetic susceptibility testing is a tool to evaluate the association of genetic polymorphisms with gastric cancer carcinogenesis.		alcohol									
119034		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Hishida, A.  et al. 2004	15291355	codon 31			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Japanese	Japan	CDC GDPinfo	1026	Hs.370771			Leukemia & lymphoma. 2004 May;45(5):957-64	Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese.		116899	9348	2	2004	Further examination with a sufficiently larger population and other ethnicities are required to confirm our findings.	Case non-Hodgkin's lymphoma cases:Japan;Control:controls										
119035		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	6	6p21.2	CDKN1A	36754464	36763087		Huang, S. P.  et al. 2004	15598783	codon 31			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2217-24	p53 Codon 72 and p21 codon 31 polymorphisms in prostate cancer.		116899	9349	2	2004	Our findings suggest that the p21 codon 31 polymorphism may be associated with the development of prostate enlargement and cancer.	Case:200 prostate cancer cases:Taiwan;Control:247/181 age-matched male controls (n=247) and non-age-matched symptomatic benign prostatic hyperplasic patients (n=181)										
119030	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Invasiveness|Disease Progression	6	6p21.2	CDKN1A	36754464	36763087		Chen, W. C.  et al. 2002	12474524	codon 31			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Urologic oncology. 2002 Mar-Apr;7(2):63-6	p21 gene codon 31 polymorphism is associated with bladder cancer.		116899	9344	2	2002	Although the mechanism is unclear, our results show p21 gene is associated with tumor grade.	Control:119 healthy controls;Case:53 bladder cancer patients:Taiwan										
119031		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	6	6p21.2	CDKN1A	36754464	36763087		Tsai, F. J.  et al. 2004	14738489				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Chinese		CDC GDPinfo	1026	Hs.370771			Acta ophthalmologica Scandinavica. 2004 Feb;82(1):76-80	A codon 31ser-arg polymorphism of the WAF-1/CIP-1/p21/tumour suppressor gene in Chinese primary open-angle glaucoma		116899	9345	2	2004	 This study suggests that an association exists between the Arg allele of the p21 codon 31 polymorphism and POAG in the Chinese population.	Case:58 primary open-angle glaucoma patients;Control:59 healthy volunteers										
119032	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Wu, M. T.  et al. 2004	15036662	codon 31			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2		Taiwan	CDC GDPinfo	1026	Hs.370771			Cancer letters. 2004 Mar;205(1):61-8	Influences of lifestyle habits and p53 codon 72 and p21 codon 31 polymorphisms on gastric cancer risk in Taiwan.		116899	9346	2	2004	In summary, our data indicate that in Taiwan, H. pylori infection, smoking and areca chewing are significant risk predictors for developing gastric cancer. p53 codon 72 and p21 codon 31 genotypes did not modify these risks.	Control:192 hospital-based controls;Case:89 gastric adenocarcinoma hospital-based cases:Taiwan	Helicobacter pylori smoking (tobacco) tobacco, chewing									
119027		skin cancer	CANCER	CAN	Melanoma|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Bowen's Disease|Skin Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Konishi, R.  et al. 2000	11084299				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Journal of dermatological science. 2000 Dec;24(3):177-83	Polymorphisms of p21 cyclin-dependent kinase inhibitor and malignant skin tumors.		116899	9341	2	2000	Although the p21 polymorphisms were found not to be involved with skin carcinogenesis, ethnic differences of the allele frequency distribution must be taken into account in studying the role of the p21 polymorphism in carcinogenesis.	Case:113;Control:165 healthy Japanese										
119028		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Harima, Y.  et al. 2001	11179504				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Japanese	Japan	CDC GDPinfo	1026	Hs.370771			International journal of molecular medicine. 2001 Mar;7(3):261-4	Polymorphism of the WAF1 gene is related to susceptibility to cervical cancer in Japanese women.		116899	9342	2	2001	In conclusion, the increased frequency of WAF1 polymorphism in the patients studied implied that codon 31 Arg allele of the WAF1 gene may be associated with a tendency to develop cervical carcinoma. To our knowledge, this is the first report of WAF1 somatic mutations in primary human cervical cancer.	Control:unspecified;Case:66 patients with cervical cancer										
119029		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Keshava, C.  et al. 2002	11815410				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Caucasian		CDC GDPinfo	1026	Hs.370771			Cancer epidemiology, biomarkers & prevention. 2002 Jan;11(1):127-30	Waf-1 (p21) and p53 polymorphisms in breast cancer.		116899	9343	2	2002	we did not see an interaction between Waf-1(ser31) and p53(1--2-1). Consistent with the finding that p53(1--2-1) is a risk factor for Caucasian women was the observation of a strong interaction between race and p53 (P < 0.01).	Case:160 Caucasians, African-Americans and Latinas breast cancer patients;Control:327 controls of same ethnic origin								N		
119024		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Bahl R et al. 2000	10656678				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			KGB	1026	Hs.370771			Oncogene. 2000 Jan;19(3):323-8	Novel polymorphism in p21(waf1/cip1) cyclin dependent kinase inhibitor gene: association with human esophageal cancer.		116899	1198	1	2000												
119025	N	Lung Cancer	CANCER	CAN	Carcinoma, Adenosquamous|Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087	n	Shih CM 2000	10744039	Ser/ Arg and Arg/ Arg			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Taiwan	Taiwan	KGB	1026	Hs.370771			Japanese journal of cancer research. 2000 Jan;91(1):15-Sep			116899	1199	1	2000		Case:155; Control:189										
119026		glaucoma	VISION	VIS	Glaucoma, Open-Angle	6	6p21.2	CDKN1A	36754464	36763087		Tsai FJ 2004	14738489				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			KGB	1026	Hs.370771			Acta ophthalmologica Scandinavica. 2004 Feb;82(1):76-80	A codon 31ser-arg polymorphism of the WAF-1/CIP-1/p21/tumour suppressor gene in Chinese primary open-angle glaucoma.		116899	1200	1	2004	 This study suggests that an association exists between the Arg allele of the p21 codon 31 polymorphism and POAG in the Chinese population.	Case:58 primary open-angle glaucoma patients;Control:59 healthy volunteers										
119021		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Neoplasms, Multiple Primary	12	12q14	CDK4	56428269	56432431		Puig, S.  et al. 2005	15860862				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			CDC GDPinfo	1019	Hs.95577			Journal of clinical oncology. 2005 May;23(13):3043-51	Role of the CDKN2A locus in patients with multiple primary melanomas.		123829	15728	2	2005	 MPM patients are good candidates for CDKN2A mutational screening. These patients and some of their siblings should be included in a program of specific follow-up with total body photography and digital dermoscopy, which will result in the early detection of melanoma in this subset of high-risk patients and improve phenotypic characterization.	Case:104 multiple primary melanoma patients										
119022		body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	CANCER	CAN		5	5q12.1	CDK7	68566470	68609006		Ford, B. N.  et al. 2000	11062157				Cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001799.2			CDC GDPinfo	1022	Hs.184298			Carcinogenesis. 2000 Nov;21(11):1977-81	Identification of single nucleotide polymorphisms in human DNA repair genes.		601955	20762	2	2000	Using this approach, possible associations of sequence variation, and hence of variation in DNA repair, with disease risk can be assessed.	Cohort 142 healthy individuals 										
119023	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Precancerous Conditions|Leukoplakia	6	6p21.2	CDKN1A	36754464	36763087		Ralhan R et al. 2000	10873097				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			KGB	1026	Hs.370771			Clinical cancer research. 2000 Jun;6(6):2440-7	Association between polymorphism in p21(Waf1/Cip1) cyclin-dependent kinase inhibitor gene and human oral cancer.		116899	1197	1	2000												
119018		melanoma, sporadic primary	CANCER	CAN	Melanoma	12	12q14	CDK4	56428269	56432431		Kumar, R.  et al. 2001	11668523				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			CDC GDPinfo	1019	Hs.95577			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):388-93	A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.		123829	9355	2	2001	The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls.	Case:229 melanoma cases;Control:235 controls not otherhwise specified in abstract										
119019		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	12	12q14	CDK4	56428269	56432431		Einsiedel, H. G.  et al. 2001	11426564				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			CDC GDPinfo	1019	Hs.95577			Leukemia & lymphoma. 2001 Jan;40(4-Mar):413-7	Absence of mutations in the CDKN2 binding site of CDK4 in childhood acute lymphoblastic leukemia.		123829	15709	2	2001	Here we report the absence of point mutations in the CDKN2-binding site of CDK4 in 100 cases of childhood ALL	Case:100 cases of childhood ALL										
119020		body mass; diabetes, type 2; glucose; birth weight	METABOLIC	MET	Diabetes Mellitus, Type 2|Birth Weight	12	12q14	CDK4	56428269	56432431		Nielsen, E. M.  et al. 2005	15821902				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2		Denmark	CDC GDPinfo	1019	Hs.95577			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):353-61	Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits.		123829	15710	2	2005												
119015		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Sadetzki, S.  et al. 2005	15824172				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Israel	CDC GDPinfo	999	Hs.461086			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		192090	20761	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
119016		breast cancer	CANCER	CAN	Breast Neoplasms	16	16q22.1	CDH1	67328695	67426945		Goode, E. L.  et al. 2002	12036913				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		192090	26808	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
119017	N	Glioma	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	12	12q14	CDK4	56428269	56432431	n	Gao L 1997	9815774	?			Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			KGB	1019	Hs.95577			Clinical cancer research. 1997 Jun;3(6):977-81			123829	1196	1	1997												
119012		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Lindstrom, S.  et al. 2005	16189707				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Human genetics. 2005 Dec;118(4-Mar):339-47	Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoterSNP.		192090	15708	2	2005			family history									
119013	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	16	16q22.1	CDH1	67328695	67426945		Verma, L.  et al. 2001	11158177				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Journal of medical genetics. 2001 Feb;38(2):E7	Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.		192090	19839	2	2001	In summary, we did not detect evidence to suggest that germline TGFBR2 or CDH1 mutations are a frequent occurrence in patients with early onset colorectal cancer or hereditary nonpolyposis colon cancer syndrome.	Control:30 normal controls;Case:67 patients with early onset colorectal cancer										
119014		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Porter, T. R.  et al. 2002	11896626				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Oncogene. 2002 Mar;21(12):1928-33	Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.		192090	20760	2	2002	No significant differences between the frequency of CDH1 -160A/C genotypes in familial, sporadic colorectal cancer cases and controls were seen, although a possible association between the low expressing A allele and right-sided tumours was detected in familial cases.	Control:171 controls not otherwise specified in abstract;Case:206 familial cases of colorectal cancer										
119010	N	breast cancer; prostate cancer; gastric cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms|Prostatic Neoplasms	16	16q22.1	CDH1	67328695	67426945		Jonsson, B. A.  et al. 2002	11948460				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			International journal of cancer. Journal international du cancer. 2002 Apr;98(6):838-43	Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer		192090	15706	2	2002	We found several germline mutations of unknown clinical significance in the CDH1 gene that probably do not explain the association of prostate, gastric and/or breast cancers in the HPC-families. Two missense mutations and a mutation in intron 5 were identified that do not influence the risk of hereditary or sporadic prostate cancer in general and are considered to be pedigree specific. In a family with hereditary gastric cancer of the diffuse type, we identified the first truncating germline mutation in a Scandinavian family.	Case:136 cases with hereditary prostate cancer:Cohort:20 individuals (17 members from 13 HPC families and 3 members from 3 families with hereditary gastric:cancer (HGC));Case:215 cases of sporadic prostate cancer;Control:422 age matched controls										
119011		gastrointestinal cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Humar, B.  et al. 2002	12444556				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Italy	CDC GDPinfo	999	Hs.461086			Oncogene. 2002 Nov;21(53):8192-5	Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer		192090	15707	2	2002	The odds ratio associated with the A-allele was 2.27 for CA-heterozygotes (95%CI 1.16-4.44) and 7.84 for AA-homozygotes (95%CI 2.89-21.24). Two additional polymorphisms (the 48+6T-->C and the 2076C-->T variant) were genotyped and shown to be equally distributed among cases and controls. Haplotype analysis with the three polymorphisms confirmed an association with disease (P<0.004). However, this analysis suggested the -160C-->A CDH1 promoter polymorphism may be in linkage disequilibrium with a distinct aetiological locus or acts in combination with other functional variants in or near the CDH1 region.	Case:53 diffuse gastric cancer cases;Control:70 matched controls										
119005		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	16	16q22.1	CDH1	67328695	67426945		Lin, H. J.  et al. 2005	16276119				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Ophthalmic research. 2006 ;38(1):44-8	Association of E-Cadherin Gene 3'-UTR C/T Polymorphism with Primary Open Angle Glaucoma.		192090	9338	2	2005	 CDH-1 is closely related to metalloproteinase and plays an important but not well-understood role in the onset and progression of POAG. The exact role of CDH-1 in POAG could be resolved by the posttranslated products of the gene and the protein-protein interaction of the gene products in the future.											
119007		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945			16372334				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			The Prostate. 2005	E-cadherin polymorphisms and haplotypes influence risk for prostate cancer		192090	9340	2	2005	 Our data indicate that CDH1 likely is a low-penetrant PCA susceptibility gene, however, population differences in linkage disequilibrium within the CDH1 gene region may influence the effect of susceptibility alleles such as -160A.											
119008	Y	prostate cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Stomach Neoplasms|Prostatic Neoplasms	16	16q22.1	CDH1	67328695	67426945		Ikonen, T.  et al. 2001	11705864				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Clinical cancer research. 2001 Nov;7(11):3465-71	Association of E-cadherin germ-line alterations with prostate cancer.		192090	15704	2	2001	We conclude that  individual rare mutations and polymorphisms in the CDH1 gene, such as S270A, may contribute to the onset of PCA and warrant further investigations in other populations. However, the CDH1 gene does not appear to explain the link between prostate and gastric cancer.	Case:120 familial prostate cancer patients;Case:472 unselected prostate cancer patients;Control:923 blood donors										
119002	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Kamoto, T.  et al. 2005	15741307				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Japanese		CDC GDPinfo	999	Hs.461086			Japanese journal of clinical oncology. 2005 Mar;35(3):158-61	Association of a genetic polymorphism of the E-cadherin gene with prostate cancer in a Japanese population.		192090	9335	2	2005	A marginally significant difference was found between prostate cancer patients and male controls (P = 0.053). No significant difference was observed between prostate cancer and BPH patients. When patients with prostate cancer were divided into two groups, stage A+B and stage C+D, a significant difference was observed between progressive cancer patients (stage C+D) and male controls (odds ratio = 1.93, P = 0.016). It is possible that the presence of one A allele resulted in an increased risk of cancer progression.	Control:209/139 benign prostatic hyperplasia patients (n=209) and male controls (n=139);Case:236 Japanese patients with prostate cancer										
119003		esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Zhang, X. F.  et al. 2005	15890089				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Ai zheng. 2005 May;24(5):513-9	[Correlation of E-cadherin polymorphisms to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma]		192090	9336	2	2005	 CDH1 C-160A SNP has no relation with susceptibility and lymphatic metastasis of ESCC and GCA. However, individuals with G-347GA GA allele have high risk of developing GCAu individuals with -160A/-347GA haplotype have high risk of developing ESCC.	Case:239 gastric cardiac adenocarcinoma cases northern China;Control:343 healthy controls										
119004		stomach cancer	CANCER	CAN		16	16q22.1	CDH1	67328695	67426945		Song, C.  et al. 2005	16215948	C-160A			Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Chinese		CDC GDPinfo	999	Hs.461086			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):557-9	[Association of -160(C-->A) polymorphism in CDH1 gene with gastric cancer risk in Fujian Chinese population]		192090	9337	2	2005	 -160(C-->A) polymorphism in CDH1 gene promoter region may not be in association with genetic susceptibility to gastric cancer in Chinese population from Fujian.											
118999	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Jonsson, B. A.  et al. 2004	14961571	C-160A		promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Sweden	CDC GDPinfo	999	Hs.461086			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):348-52	-160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer		192090	9332	2	2004	Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer.	Case:1,036 prostate cancer cases from 3 population-based:studies:Sweden;Control:669:controls										
119000	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16q22.1	CDH1	67328695	67426945		Shin, Y.  et al. 2004	15231691				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Carcinogenesis. 2004 Nov;25(11):2173-6	A functional polymorphism (-347 G-->GA) in the E-cadherin gene is associated with colorectal cancer.		192090	9333	2	2004	Taken together, our results suggest that the E-cadherin -347 G-->GA polymorphism may be associated with colorectal cancer.	Control:147 normal controls;Case:260 colorectal cancer patients										
119001	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Lu, Y.  et al. 2005	15609397	C-160A		promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Chinese		CDC GDPinfo	999	Hs.461086			World journal of gastroenterology. 2005 Jan;11(1):56-60	E-cadherin gene C-160A promoter polymorphism and risk of non-cardia gastric cancer in a Chinese population		192090	9334	2	2005	 E-cadherin gene C-160A promoter polymorphism may not play a major role in the etiology of non-cardia gastric cancer in Chinese population.	Case:206 non-cardia gastric cancer patients:China;Control:261 age- and sex-matched but unrelated cancer-free:controls										
118996	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis|Disease Progression	16	16q22.1	CDH1	67328695	67426945		Kuraoka, K.  et al. 2003	12851691			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Japanese	Japan	CDC GDPinfo	999	Hs.461086			International journal of oncology. 2003 Aug;23(2):421-7	Correlation of a single nucleotide polymorphism in the E-cadherin gene promoter with tumorigenesis and progression of gastric carcinoma in Japan.		192090	9329	2	2003	These results suggest that the C/A SNP in the E-cadherin promoter may be a good marker for malignancy of gastric carcinomas.	Case:106 gastric cancer cases;Control:90 cancer-free controls										
118997	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Park, W. S.  et al. 2003	12923325	C-160A		promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Korean	Korea	CDC GDPinfo	999	Hs.461086			Journal of Korean medical science. 2003 Aug;18(4):501-4	A Single Nucleotide Polymorphism in the E-cadherin Gene Promoter-160 is Not Associated with Risk of Korean Gastric Cancer		192090	9330	2	2003	These results suggest that the -160 C/A polymorphism of the E-cadherin has no direct effect on the risk of Korean gastric cancer development and on its histological classification.	Control:146 nromal healthy individuals;Case:292 Korean gastric cancer patients										
118998	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	16	16q22.1	CDH1	67328695	67426945		Zhang, X.  et al. 2003	14501773			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			The Journal of urology. 2003 Oct;170(4 Pt 1):1379-82	Association between a C/A single nucleotide polymorphism of the E-cadherin gene promoter and transitional cell carcinoma of the bladder.		192090	9331	2	2003	 The -160 C/A single nucleotide polymorphism of the E-cadherin gene promoter is associated with TCCB. This single nucleotide polymorphism may serve as a prognostic marker of TCCB.	Case:50 patients with transitional cell carcinoma of the:bladder;Control:50 normal controls										
118993	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Pharoah, P. D.  et al. 2002	12209998	C-160A			Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Canada|Germany|Portugal	CDC GDPinfo	999	Hs.461086			International journal of cancer. Journal international du cancer. 2002 Sep;101(2):196-7	CDH1 c-160a promotor polymorphism is not associated with risk of stomach cancer.		192090	9326	2	2002	We found no evidence for differences in risk for the intestinal- and diffuse-type histopathologic subgroups.	Control:266:controls;Case:433 stomach cancer patients										
118994	Y	urinary calculus	METABOLIC	MET	Urinary Calculi	16	16q22.1	CDH1	67328695	67426945		Tsai, F. J.  et al. 2003	12740491				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Urologia internationalis. 2003 ;70(4):278-81	Association of E-cadherin gene 3'-UTR C/T polymorphism with calcium oxalate stone disease.		192090	9327	2	2003	 The results revealed significant differences between normal individuals and calcium stone disease patients (p = 0.0013). The distribution of genotype TT homozygote was higher in stone patients (51.5%) than in the control group (43.4%). The odds ratio for T allele compared to C allele was 2.0. We have concluded that polymorphisms of CDH-1 3'-UTR is a valid genetic marker for calcium stone disease.	Control:103 healthy cotnrols;Case:148 patients with calcium oxalate stone										
118995	Y	urothelial cancer	CANCER	CAN	Urologic Neoplasms|Kidney Neoplasms|Ureteral Neoplasms|Urinary Bladder Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Tsukino, H.  et al. 2003	12767511				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Japan	CDC GDPinfo	999	Hs.461086			Cancer letters. 2003 May;195(1):53-8	E-cadherin gene polymorphism and risk of urothelial cancer		192090	9328	2	2003	The present study demonstrates for the first time that E-cadherin A/A genotype may be associated with susceptibility to urothelial cancer, but not with the progression of disease.	Case:314 urothelial cancer patients;Control:314 age-sex matched controls										
118990		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Jonsson BA 2004	14961571	'-160C/A		5' promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Sweden	KGB	999	Hs.461086			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):348-52	-160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer.		192090	1194	1	2004	Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer.	Case:1,036 prostate cancer cases from 3 population-based:studies:Sweden;Control:669:controls										
118991	Y	gastric carcinoma risk	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Lymphatic Metastasis	16	16q22.1	CDH1	67328695	67426945		Wu MS et al. 2002	11920500			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			Cancer. 2002 Mar;94(5):1443-8	Association of the -160 C --> a promoter polymorphism of E-cadherin gene with gastric carcinoma risk.		192090	1195	1	2002	 The authors' data suggest that individuals with E-cadherin -160 A/A genotype have a decreased risk of GC. Further work is mandatory to clarify the functional relevance of the A allele in vivo and to confirm the inverse association of the A/A genotype with GC in large epidemiologic studies.	Control:196 unaffected controls;Case:201 gastric cancer cases	Helicobacter pylori smoking (tobacco)									
118992		gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Lymphatic Metastasis	16	16q22.1	CDH1	67328695	67426945		Wu, M. S.  et al. 2002	11920500	C-160A		promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Cancer. 2002 Mar;94(5):1443-8	Association of the -160 C --> a promoter polymorphism of E-cadherin gene with gastric carcinoma risk.		192090	9325	2	2002	 The authors' data suggest that individuals with E-cadherin -160 A/A genotype have a decreased risk of GC. Further work is mandatory to clarify the functional relevance of the A allele in vivo and to confirm the inverse association of the A/A genotype with GC in large epidemiologic studies.	Control:196 unaffected controls;Case:201 gastric cancer cases	Helicobacter pylori smoking (tobacco)									
118987	Y	prostate cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Stomach Neoplasms|Prostatic Neoplasms	16	16q22.1	CDH1	67328695	67426945		Ikonen T et al. 2001	11705864				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			Clinical cancer research. 2001 Nov;7(11):3465-71	Association of E-cadherin germ-line alterations with prostate cancer.		192090	1191	1	2001	We conclude that  individual rare mutations and polymorphisms in the CDH1 gene, such as S270A, may contribute to the onset of PCA and warrant further investigations in other populations. However, the CDH1 gene does not appear to explain the link between prostate and gastric cancer.	Case:120 familial prostate cancer patients;Case:472 unselected prostate cancer patients;Control:923 blood donors										
118988		prostate cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms|Prostatic Neoplasms	16	16q22.1	CDH1	67328695	67426945		Jonsson BA et al. 2002	11948460				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			International journal of cancer. Journal international du cancer. 2002 Apr;98(6):838-43	Germline mutations in E-cadherin do not explain association of hereditary prostate cancer gastric cancer and breast cancer.		192090	1192	1	2002	We found several germline mutations of unknown clinical significance in the CDH1 gene that probably do not explain the association of prostate, gastric and/or breast cancers in the HPC-families. Two missense mutations and a mutation in intron 5 were identified that do not influence the risk of hereditary or sporadic prostate cancer in general and are considered to be pedigree specific. In a family with hereditary gastric cancer of the diffuse type, we identified the first truncating germline mutation in a Scandinavian family.	Case:136 cases with hereditary prostate cancer:Cohort:20 individuals (17 members from 13 HPC families and 3 members from 3 families with hereditary gastric:cancer (HGC));Case:215 cases of sporadic prostate cancer;Control:422 age matched controls										
118989	Y	transitional cell carcinoma of the bladder.	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	16	16q22.1	CDH1	67328695	67426945		Zhang X 2003	14501773			5'promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			The Journal of urology. 2003 Oct;170(4 Pt 1):1379-82	Association between a C/A single nucleotide polymorphism of the E-cadherin gene promoter and transitional cell carcinoma of the bladder.		192090	1193	1	2003	 The -160 C/A single nucleotide polymorphism of the E-cadherin gene promoter is associated with TCCB. This single nucleotide polymorphism may serve as a prognostic marker of TCCB.	Case:50 patients with transitional cell carcinoma of the:bladder;Control:50 normal controls										
118984	Y	diffuse gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Humar B et al. 2002	12444556				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Italy	KGB	999	Hs.461086			Oncogene. 2002 Nov;21(53):8192-5	Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer.		192090	1188	1	2002	The odds ratio associated with the A-allele was 2.27 for CA-heterozygotes (95%CI 1.16-4.44) and 7.84 for AA-homozygotes (95%CI 2.89-21.24). Two additional polymorphisms (the 48+6T-->C and the 2076C-->T variant) were genotyped and shown to be equally distributed among cases and controls. Haplotype analysis with the three polymorphisms confirmed an association with disease (P<0.004). However, this analysis suggested the -160C-->A CDH1 promoter polymorphism may be in linkage disequilibrium with a distinct aetiological locus or acts in combination with other functional variants in or near the CDH1 region.	Case:53 diffuse gastric cancer cases;Control:70 matched controls										
118985	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945	n	Pharoah PD et al. 2002	12209998				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2		Canada|Germany|Portugal	KGB	999	Hs.461086			International journal of cancer. Journal international du cancer. 2002 Sep;101(2):196-7	CDH1 c-160a promotor polymorphism is not associated with risk of stomach cancer.		192090	1189	1	2002	We found no evidence for differences in risk for the intestinal- and diffuse-type histopathologic subgroups.	Control:266:controls;Case:433 stomach cancer patients										
118986		breast carcinomas	CANCER	CAN	Carcinoma, Lobular|Carcinoma in Situ|Breast Neoplasms|Neoplasm Invasiveness|Disease Progression	16	16q22.1	CDH1	67328695	67426945		Rieger-Christ KM et al. 2001	11322170				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			Molecular pathology. 2001 Apr;54(2):91-7	Disparate E-cadherin mutations in LCIS and associated invasive breast carcinomas.		192090	1190	1	2001	 These data support the hypothesis that LCIS is not a precursor of invasive breast carcinoma but a marker of increased risk of developing invasive disease.											
118980	Y	Alzheimer's disease; dementia	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease|Genetic Predisposition to Disease	10	10q21.1	CDC2	62208241	62223930		Johansson, A.  et al. 2003	12648761				Cell division cycle 2, G1 to S and G2 to M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001786.2			CDC GDPinfo	983	Hs.334562			Neuroscience letters. 2003 Apr;340(1):69-73	Increased frequency of a new polymorphism in the cell division cycle 2 (cdc2) gene in patients with Alzheimer's disease and frontotemporal dementia.		116940	9324	2	2003	Our findings suggest that the Ex6+7I allele is associated with tauopathies, both AD and FTD.	Control:160:controls;Case:272/70 Alzzheimer's disease (n=272) and frontotemporal:dementia (n=70) cases										
118981	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21.1	CDC2	62208241	62223930		Johansson, A.  et al. 2005	16192727				Cell division cycle 2, G1 to S and G2 to M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001786.2			CDC GDPinfo	983	Hs.334562			Dementia and geriatric cognitive disorders. 2005 ;20(6):367-74	Genetic association of CDC2 with cerebrospinal fluid tau in Alzheimer's disease.		116940	15702	2	2005												
118982	Y	altered cell-cycle	OTHER	OTH	Anemia	3	3p21	Cdc25A	48173671	48204805		Melkun E et al. 2002	12411323				Cell division cycle 25A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001789			KGB	993	Hs.1634			Blood. 2002 Nov;100(10):3804-11	A naturally occurring point substitution in Cdc25A and not Fv2/Stk is associated with altered cell-cycle status of early erythroid progenitor cells.		116947	1186	1	2002												
118977		rheumatoid arthritis; systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q21	CD86	123256910	123322673		Matsushita, M.  et al. 2000	11196673				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3		Japan	CDC GDPinfo	942	Hs.171182			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		601020	20757	2	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample 										
118978		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	3	3q21	CD86	123256910	123322673		Handa, T.  et al. 2005	15942292				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3			CDC GDPinfo	942	Hs.171182			Respiration; international review of thoracic diseases. 2005 May-Jun;72(3):243-8	Polymorphisms of B7 (CD80 and CD86) genes do not affect disease susceptibility to sarcoidosis.		601020	20758	2	2005	 There was no relationship between the B7 gene polymorphisms studied and disease susceptibility or BAL fluid cell profiles in Japanese sarcoidosis patients.											
118979		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	3	3q21	CD86	123256910	123322673		Teutsch, S. M.  et al. 2004	14975605				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3	Australian	Australia	CDC GDPinfo	942	Hs.171182			Journal of neuroimmunology. 2004 Mar;148(2-Jan):218-30	Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients.		601020	24130	2	2004	Our results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms.	Cohort multiple sclerosis patients 										
118973	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3q21	CD86	123256910	123322673	n	Turpeinen H et al. 2002	12187923				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3		Finland	KGB	942	Hs.171182			Diabetologia. 2002 Jul;45(7):1041-2	CD86 gene polymorphisms: no association with Type I diabetes among Finnish subjects.		601020	1168	1	2002												
118974	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q21	CD86	123256910	123322673	n	Matsushita M et al. 2000	11196673				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3	Japanese	Japan	Tsuchiya N	942	Hs.171182			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		601020	1169	1	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample										
118975	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	3	3q21	CD86	123256910	123322673		Eur J Immunogenet 29, 331-333, 2002	12121279		no effects	other	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3	Finland	Finland	Jukka Partanen	942	Hs.171182			European journal of immunogenetics. 2002 Aug;29(4):331-3	CD80 (B7-1) and CD86 (B7-2) genes and genetic susceptibility to coeliac disease		601020	1170	1	2002		Case:96 families										
118970		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	3	3q13.3-q21	CD80	120725829	120761171		Saito, T.  et al. 2004	15063762				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2		Japan	CDC GDPinfo	941	Hs.838			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		112203	27894	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
118971	Y	hepatitis C	INFECTION	INF	Hepatitis C	11	11p15.5	CD81	2355122	2375225		Hennig, B. J.  et al. 2002	12209363				CD81 antigen (target of antiproliferative antibody 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004356.3			CDC GDPinfo	975	Hs.54457			Genes and immunity. 2002 Sep;3(6):359-67	Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection		186845	12132	2	2002	Overall, our data add to the increasing body of evidence of the involvement of host genetic factors in infectious disease and hepatitis C infection in particular. Similar studies should be conducted in other population in order to confirm, or otherwise, these findings.	Cohort 837 hepatitis C patients 	anti-viral treatment									
118972	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q21	CD86	123256910	123322673	n	Matsushita M et al. 2000	11196673				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3	Japanese	Japan	Tsuchiya N	942	Hs.171182			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		601020	1167	1	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample										
118967		rheumatoid arthritis; systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q13.3-q21	CD80	120725829	120761171		Matsushita, M.  et al. 2000	11196673				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2		Japan	CDC GDPinfo	941	Hs.838			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		112203	9320	2	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample 										
118968		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	3	3q13.3-q21	CD80	120725829	120761171		Handa, T.  et al. 2005	15942292				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2			CDC GDPinfo	941	Hs.838			Respiration; international review of thoracic diseases. 2005 May-Jun;72(3):243-8	Polymorphisms of B7 (CD80 and CD86) genes do not affect disease susceptibility to sarcoidosis.		112203	9322	2	2005	 There was no relationship between the B7 gene polymorphisms studied and disease susceptibility or BAL fluid cell profiles in Japanese sarcoidosis patients.											
118969		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	3	3q13.3-q21	CD80	120725829	120761171		Teutsch, S. M.  et al. 2004	14975605				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2	Australian	Australia	CDC GDPinfo	941	Hs.838			Journal of neuroimmunology. 2004 Mar;148(2-Jan):218-30	Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients.		112203	20756	2	2004	Our results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms.	Cohort multiple sclerosis patients 										
118964	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q13.3-q21	CD80	120725829	120761171	n	Matsushita M et al. 2000	11196673				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2	Japanese	Japan	Tsuchiya N	941	Hs.838			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		112203	1164	1	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample										
118965	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3q13.3-q21	CD80	120725829	120761171	n	Matsushita M et al. 2000	11196673				CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2	Japanese	Japan	Tsuchiya N	941	Hs.838			Genes and immunity. 2000 Oct;1(7):428-34	New polymorphisms of human CD80 and CD86: lack ofassociation with rheumatoid arthritis and systemic lupus erythematosus.		112203	1165	1	2000	None of the observed variations was significantly associated with RA or SLE. Further studies will be of particular interest to examine the functional difference of the promoter alleles for the transcriptional activity of CD80, as well as the evolutionary pathway of the four alleles.	Cohort Japanese population sample										
118966	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	3	3q13.3-q21	CD80	120725829	120761171		Eur J Immunogenet 29, 331-333, 2002	12121279		no effects	other	CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005191.2	Finland	Finland	Jukka Partanen	941	Hs.838			European journal of immunogenetics. 2002 Aug;29(4):331-3	CD80 (B7-1) and CD86 (B7-2) genes and genetic susceptibility to coeliac disease		112203	1166	1	2002		Case:96 families										
118961		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11p13	CD44	35116992	35210525		Barton, A.  et al. 2002	11981324				CD44 antigen (homing function and Indian blood group system)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000610.3			CDC GDPinfo	960	Hs.502328			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		107269	24129	2	2002	Review article											
118962		leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Lymphoma, Mantle-cell|Genetic Predisposition to Disease	11	11q13	CD5	60626542	60651899		Perez-Chacon, G.  et al. 2005	15981803			promoter	CD5 antigen (p56-62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014207.2			CDC GDPinfo	921	Hs.58685			American journal of clinical pathology. 2005 May;123(5):646-50	Polymorphism in the CD5 gene promoter in B-cell chronic lymphocytic leukemia and mantle cell lymphoma.		153340	9319	2	2005												
118963	Y	lupus erythematosus	IMMUNE	IMM	Genetic Predisposition to Disease	9	9p13.3	CD72	35599975	35608410		Hitomi, Y.  et al. 2004	15459183				CD72 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001782.1			CDC GDPinfo	971	Hs.116481			Human molecular genetics. 2004 Dec;13(23):2907-17	CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B.		107272	10614	2	2004	These results indicated that presence of CD72-*2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72.	Case:160/87 Japanese (n=160), Thai (n=87) systemic lupus erythematosus patients;Control:277/187:Japanese (n=277), Thai (n=187) controls										
118958	N	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	X	Xq26	CD40LG	135558001	135570215		Campbell, S. J.  et al. 2003	12955358				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2	West African	Africa, Western	CDC GDPinfo	959	Hs.592244			Immunogenetics. 2003 Oct;55(7):502-7	Variants of the CD40 ligand gene are not associated with increased susceptibility to tuberculosis in West Africa.		308230	15700	2	2003	We conclude that  common genetic variation in TNFSF5 is not likely to affect tuberculosis susceptibility in West Africa and the linkage observed in this region is not due to variation in TNFSF5.	Case tuberculosis patients West Africa;Control:controls										
118959	N	Graves' disease	IMMUNE	IMM	Graves Disease	X	Xq26	CD40LG	135558001	135570215		Houston, F. A.  et al. 2004	15307939				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2	U.K. population		CDC GDPinfo	959	Hs.592244			Thyroid. 2004 Jul;14(7):506-9	Role of the CD40 locus in Graves' disease.		308230	15701	2	2004	We are unable to confirm a role for CD40 in Graves' disease pathogenesis in our U.K. population, however, further studies involving larger patient cohorts and a saturated SNP marker map are required to resolve this issue.	Control:446 healthy controls;Case:451 unrelated white subjects with Graves' disease:UK										
118960		Lupus	IMMUNE	IMM	Thrombocytopenia|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	11	11p13	CD44	35116992	35210525		Kaufman KM et al. 2002	12215908				CD44 antigen (homing function and Indian blood group system)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000610.3			KGB	960	Hs.502328			Genes and immunity. 2002 Oct;3 Suppl 1:S86-8	A genetic marker within the CD44 gene confirms linkage at 11p13 in African-American families with lupus stratified by thrombocytopenia but genetic association with CD44 is not present.		107269	1185	1	2002												
118955		malaria	INFECTION	INF	Malaria, Falciparum	X	Xq26	CD40LG	135558001	135570215		Sabeti P et al. 2002	12140747				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2		Gambia	KGB	959	Hs.592244			Genes and immunity. 2002 Aug;3(5):286-91	CD40L association with protection from severe malaria.		308230	1184	1	2002												
118956	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	X	Xq26	CD40LG	135558001	135570215		Citores, M. J.  et al. 2004	14962968				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2			CDC GDPinfo	959	Hs.592244			Annals of the rheumatic diseases. 2004 Mar;63(3):310-7	The dinucleotide repeat polymorphism in the 3'UTR of the CD154 gene has a functional role on protein expression and is associated with systemic lupus erythematosus.		308230	9317	2	2004	 The CD154 3'UTR microsatellite is associated with SLE, and the most represented alleles in patients were accompanied by a more prolonged protein expression in activated lymphocytes from controls.	Case:80 patients with systemic lupus erythematosus;Control:80:controls										
118957		kidney transplant complications	IMMUNE	IMM		X	Xq26	CD40LG	135558001	135570215			16378074				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2			CDC GDPinfo	959	Hs.592244			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		308230	9318	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
118952	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Onouchi, Y.  et al. 2004	15367912				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDPinfo	958	Hs.472860			European journal of human genetics. 2004 Dec;12(12):1062-8	CD40 ligand gene and Kawasaki disease		109535	15699	2	2004	Our results suggest a role of CD40L in the pathogenesis of CAL and might explain the excess of males affected with KD.	Control:controls;Case Kawasaki disease patients										
118953	Y	hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals	IMMUNE	IMM	Hypergammaglobulinemia	X	Xq26	CD40LG	135558001	135570215		Garber E et al. 1999	10559240				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2			KGB	959	Hs.592244			The Journal of biological chemistry. 1999 Nov;274(47):33545-50	CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.		308230	1182	1	1999												
118954	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	X	Xq26	CD40LG	135558001	135570215	0.0043.	Citores MJ 2004	14962968	3' UTR >24 CA repeats		3'untranslated	CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2	Spanish		KGB	959	Hs.592244	controls carrying two alleles containing >24 CA repeats maintained a longer protein expression, whereas the homozygotes for 24 CA repeats were those that first down regulated the CD154 protein expression.		Annals of the rheumatic diseases. 2004 Mar;63(3):310-7	The dinucleotide repeat polymorphism in the 3'UTR of the CD154 gene has a functional role on protein expression and is associated with systemic lupus erythematosus.		308230	1183	1	2004	 The CD154 3'UTR microsatellite is associated with SLE, and the most represented alleles in patients were accompanied by a more prolonged protein expression in activated lymphocytes from controls.	Case:80 patients with systemic lupus erythematosus;Control:80:controls										
118949	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Mukai, T.  et al. 2005	16127217			promoter	CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4	Japanese	Japan	CDC GDPinfo	958	Hs.472860			Endocrine journal. 2005 Aug;52(4):471-7	A C/T polymorphism in the 5' untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese.		109535	9316	2	2005												
118950	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Kurylowicz, A.  et al. 2005	16279844				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDPinfo	958	Hs.472860			Thyroid. 2005 Oct;15(10):1119-24	Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease.		109535	13428	2	2005	 Our results support the notion that CD40 C-1T polymorphism has a modest effect on genetic susceptibility to sporadic GD.											
118951		hepatitis B	INFECTION	INF	Hepatitis B	20	20q12-q13.2	CD40	44180312	44191791		Zhou, G.  et al. 2004	14695541				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDPinfo	958	Hs.472860			Human mutation. 2004 Jan;23(1):99-100	Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection		109535	15698	2	2004	The information from this study of the TNFRSF5 would be useful for genetic studies of other common diseases.	Control:384 spontaneously recovered subjects;Case:603 persistent HBV infected patients										
118946	N	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	20	20q12-q13.2	TNFRSF5	44180382	44191560	n	Campbell SJ 2003	12955358				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209660		Africa, Western	KGB	958	Hs.472860			Immunogenetics. 2003 Oct;55(7):502-7	Variants of the CD40 ligand gene are not associated with increased susceptibility to tuberculosis in West Africa.		109535	1181	1	2003	We conclude that  common genetic variation in TNFSF5 is not likely to affect tuberculosis susceptibility in West Africa and the linkage observed in this region is not due to variation in TNFSF5.											
118947	Y	Graves' disease; Hashimoto's thyroiditis	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Kim, T. Y.  et al. 2003	14611700			promoter	CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4	Korean	Korea	CDC GDPinfo	958	Hs.472860			Thyroid. 2003 Oct;13(10):919-25	A C/T polymorphism in the 5'-untranslated region of the CD40 gene is associated with Graves' disease in Koreans.		109535	9314	2	2003	In conclusion, the C allele in the 5'-untranslated region of the CD40 gene may confer genetic susceptibility to Graves' disease in Koreans.	Case:132/118 Korean patients with Graves' disease (n=132) and Hashimoto's thryroiditis (n=118);Control:164 normal controls										
118948	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Heward, J. M.  et al. 2004	15272925				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4		Great Britain	CDC GDPinfo	958	Hs.472860			Clinical endocrinology. 2004 Aug;61(2):269-72	A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians.		109535	9315	2	2004	 These data suggest that this polymorphism of the CD40 gene is not associated with GD in the UK and is therefore not contributing to disease susceptibility in the chromosomal region designated GD-2.	Control:785 control subjects with no history of autoimmune:disease;Case:800 Caucasian patients with Graves' disease:UK										
118943		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12pter-p12	CD4	6768911	6800237		Ghabanbasani MZ 2004	8082309				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3	Belgian		Y Wang	920	Hs.631659			Clinical and experimental immunology. 1994 Sep;97(3):517-21	Possible association of CD3 and CD4 polymorphisms with insulin-dependent diabetes mellitus (IDDM).		186940	1107	1	2004												
118944		hepatitis C; hypothyroidism	INFECTION	INF		12	12pter-p12	CD4	6768911	6800237		Das, B.  et al. 2004	15317218				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3	Indian		CDC GDPinfo	920	Hs.631659			Journal of forensic sciences. 2004 Jul;49(4):861-2	Molecular genetic analysis of TPO and CD4 loci among two endogamous ethnic groups of Maharashtra in Western India.		186940	20016	2	2004	no conclusion in abstract	Cohort 82/79 random, unrelated individuals from the Konkanastha Brahmins and Marathas ethnic groups of Maharashtra (n=82 for TPO and n=79 for CD4) Western India 										
118945		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	12	12pter-p12	CD4	6768911	6800237		Saito, T.  et al. 2004	15063762				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3		Japan	CDC GDPinfo	920	Hs.631659			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		186940	27690	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
118939		diabetes, type 1	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Diabetes Mellitus, Type 1|Autoimmune Diseases|	11	11q23	CD3E	117680661	117692100		Timon M 2004	1671848				CD3E antigen, epsilon polypeptide (TiT3 complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000733.2	Spanish		Y Wang	916	Hs.3003			Human genetics. 1991 Feb;86(4):363-4	A diallelic RFLP of the CD3-epsilon chain of the clonotypic T-lymphocyte receptor is not associated with certain autoimmune diseases		186830	1103	1	2004												
118940	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12pter-p12	CD4	6768911	6800237		Kristiansen OP et al. 1998	9519727				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3		Denmark	KGB	920	Hs.631659			Diabetes. 1998 Feb;47(2):281-3	Linkage and association between a CD4 gene polymorphism and IDDM in Danish IDDM patients. The Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood.		186940	1104	1	1998												
118941		pediatric AIDS progression.	INFECTION	INF	HIV Infections|Disease Progression	12	12pter-p12	CD4	6768911	6800237		Casartelli N 2003	14557639				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3			KGB	920	Hs.631659			Journal of virology. 2003 Nov;77(21):11536-45	CD4 and major histocompatibility complex class I downregulation by the human immunodeficiency virus type 1 nef protein in pediatric AIDS progression.		186940	1105	1	2003												
118942		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12pter-p12	CD4	6768911	6800237		Ghabanbasani MZ 2004	8082309				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3	Belgian		Y Wang	920	Hs.631659			Clinical and experimental immunology. 1994 Sep;97(3):517-21	Possible association of CD3 and CD4 polymorphisms with insulin-dependent diabetes mellitus (IDDM).		186940	1106	1	2004												
118935	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	4	4p15	CD38	15389028	15459804		Gonzalez-Escribano, M. F.  et al. 2004	15219386				CD38 antigen (p45)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001775.2	Spanish	Spain	CDC GDPinfo	952	Hs.479214			Human immunology. 2004 Jun;65(6):660-4	CD38 polymorphisms in Spanish patients with systemic lupus erythematosus.		107270	9313	2	2004	In conclusion, a slight contribution of the polymorphism located in intron 1 of the CD38 gene in the clinical features of SLE could be postulated.	Control:194:controls;Case:276 Spanish patients with systemic lupus erythematosus										
118936	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	4	4p15	CD38	15389028	15459804			16369895				CD38 antigen (p45)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001775.2			CDC GDPinfo	952	Hs.479214			Journal of bone and mineral metabolism. 2006 ;24(1):28-35	CD38 is associated with premenopausal and postmenopausal bone mineral density and postmenopausal bone loss		107270	15697	2	2006												
118937		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	4	4p15	CD38	15389028	15459804		Antonelli, A.  et al. 2002	12242463				CD38 antigen (p45)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001775.2			CDC GDPinfo	952	Hs.479214			Diabetologia. 2002 Sep;45(9):1298-306	Autoimmunity to CD38 and GAD in Type I and Type II diabetes: CD38 and HLA genotypes and clinicalphenotypes.		107270	17270	2	2002	 Anti-CD 38 autoimmunity identifies a clinical phenotype similar to non-autoimmune Type II diabetes, with relative preserved beta-cell function and weak genetic influence.	Control:100 non-diabetic control subjects;Case:298/98 adults with type 2 (n=298) and type 1 (n=98):diabetics										
118932		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q11.2	CD36	79836826	80144261		Iwai, N.  et al. 2004	15167446				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese	Japan	CDC GDPinfo	948	Hs.120949			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		173510	24128	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
118933		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	7	7q11.2	CD36	79836826	80144261		Watanabe, I.  et al. 2003	12732844				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese	Japan	CDC GDPinfo	948	Hs.120949			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		173510	27382	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
118934		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15	CD38	15389028	15459804		Yagui K et al. 1998	9754820				CD38 antigen (p45)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001775.2	Japanese	Japan	KGB	952	Hs.479214			Diabetologia. 1998 Sep;41(9):1024-8	A missense mutation in the CD38 gene a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro.		107270	1180	1	1998												
118929		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	7	7q11.2	CD36	79836826	80144261		Lepretre, F.  et al. 2004	15671915				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	French	France	CDC GDPinfo	948	Hs.120949			Diabetes & metabolism. 2004 Nov;30(5):459-63	Genetic study of the CD36 gene in a French diabetic population.		173510	15696	2	2004	 Thus, the -178 A/C SNP promoter mutation in the CD36 gene represents a putative genetic marker for insulin-resistance in the French population, although it does not appear to contribute to the genetic risk for T2D.	Control:221:controls;Case:454 type 2 diabetic subjects:France										
118930		malaria	INFECTION	INF	Malaria, Falciparum	7	7q11.2	CD36	79836826	80144261		Amodu, O. K.  et al. 2005	16002039				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1		Nigeria	CDC GDPinfo	948	Hs.120949			Acta tropica. 2005 Sep;95(3):248-55	Plasmodium falciparum malaria in south-west Nigerian children: is the polymorphism of ICAM-1and E-selectin genes contributing to the clinical severity of malaria?		173510	18886	2	2005												
118931	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q11.2	CD36	79836826	80144261		Kuriki, K.  et al. 2005	15780035				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese	Japan	CDC GDPinfo	948	Hs.120949			Asian Pacific journal of cancer prevention. 2005 Jan-Mar;6(1):62-8	Relation of the CD36 gene A52C polymorphism to the risk of colorectal cancer among Japanese, with reference to with the aldehyde dehydrogenase 2 gene Glu487Lys polymorphism and drinking habit.		173510	20755	2	2005	Our findings suggest a significant interaction between alcohol consumption and the CD36 gene A52C polymorphism related to the metabolism of long-chain fatty acids and oxidized LDL in the etiology of colorectal cancer.	Case:128 colorectal cancer cases;Control:238 cancer-free controls	alcohol									
118926	Y	Malaria infection	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum	7	7q11.2	CD36	79836826	80144261		Pain, A.  et al. 2001	11377606				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1		Kenya	CDC GDPinfo	948	Hs.120949			Lancet. 2001 May;357(9267):1502-3	A non-sense mutation in Cd36 gene is associated with protection from severe malaria.		173510	15693	2	2001	These findings suggest that this Cd36 mutation might have a complex effect on malaria infection by decreasing parasite sequestration, and also by decreasing host immune responses.	Case:693 African children with severe malaria:Africa;Control:693 ethnically matched controls	Plasmodium falciparum									
118927	Y	body mass; cholesterol; cholesterol, HDL; triglycerides; blood pressure; insulin resistance	METABOLIC	MET	Insulin Resistance	7	7q11.2	CD36	79836826	80144261		Kajihara, S.  et al. 2001	11718687	Pro90Ser			CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese	Japan	CDC GDPinfo	948	Hs.120949			Clinica chimica acta; international journal of clinical chemistry. 2001 Dec;314(2-Jan):125-30	Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese		173510	15694	2	2001	 The CD36Pro90Ser mutation is not necessarily related to the insulin resistance syndrome, but is associated with high free fatty acid concentrations in Japanese.	Cohort 142 Japanese individuals; 91 normal subjects (45 male and 46 female) randomly selected from the 780 Pro90 homozygotes and the 51 (29 male and 22 females) CD36-deficient subjects (Ser90 homozygote and Pro90Ser heterozygote) Cohort 831 Japanese adults undergoing health screening 										
118928	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q11.2	CD36	79836826	80144261		Ma, X.  et al. 2004	15282206				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Caucasian		CDC GDPinfo	948	Hs.120949			Human molecular genetics. 2004 Oct;13(19):2197-205	A Common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in caucasians		173510	15695	2	2004	In conclusion, this comprehensive study of CD36 variability indicates that common polymorphisms at this locus modulate lipid metabolism and cardiovascular risk in Caucasians.	Cohort 585 non-diabetic individuals of Caucasian origin 										
118923	Y	malaria	INFECTION	INF	Malaria, Cerebral	7	7q11.2	CD36	79836826	80144261		Omi, K.  et al. 2002	12506336				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Thai		CDC GDPinfo	948	Hs.120949			American journal of human genetics. 2003 Feb;72(2):364-74	CD36 polymorphism is associated with protection from cerebral malaria.		173510	9310	2	2002	Since exon 5 of the gene is known to encode the ligand-binding domain for P. falciparum-infected erythrocytes, in3(TG)(12) itself or a primary variant on the haplotype with in3(TG)(12) may be responsible for protection from cerebral malaria in Thailand. Results of the present study suggest that LD mapping has potential for detecting a disease-associated variant on the basis of haplotype blocks.	Cohort 475 adult Thai patients with P. falciparum malaria 										
118924	Y	malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	7	7q11.2	CD36	79836826	80144261		Omi, K.  et al. 2002	12971464				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Thai	Thailand	CDC GDPinfo	948	Hs.120949			The Southeast Asian journal of tropical medicine and public health. 2002 ;33 Suppl 3:4-Jan	Polymorphisms of CD36 in Thai malaria patients.		173510	9311	2	2002	Although independent studies should be performed in order to confirm our findings, the 539delAC allele might be a high-risk variant for cerebral malaria in Thai.	Cohort mild and cerebrla malaria patients northwet Thailand 										
118925	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q11.2	CD36	79836826	80144261		Kuriki, K.  et al. 2005	15860439				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese	Japan	CDC GDPinfo	948	Hs.120949			Nutrition and cancer. 2005 ;51(2):170-7	Increased risk of colorectal cancer due to interactions between meat consumption and the CD36 gene A52C polymorphism among Japanese.		173510	9312	2	2005	Our findings suggest that interactions between moderate-high meat consumption and the CD36 gene A52C polymorphism may increase the risk of colorectal cancer.	Case:128 colorectal cancer cases;Control:238 non-cancer controls	diet									
118920	Y	celiac disease	IMMUNE	IMM		2	2q33	CD28	204279442	204310801		Brophy, K.  et al. 2005	16237465				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1	Irish		CDC GDPinfo	940	Hs.591629			Genes and immunity. 2006 Jan;7(1):19-26	Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population.		186760	17625	2	2005												
118921		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	1	1q32	CD34	206126505	206151306		Saito, T.  et al. 2004	15063762				CD34 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025109.1		Japan	CDC GDPinfo	947	Hs.374990			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		142230	27381	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
118922	Y	cerebral malaria	INFECTION	INF	Malaria, Cerebral	7	7q11.2	CD36	79836826	80144261		Omi K et al. 2003	12506336				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1			KGB	948	Hs.120949			American journal of human genetics. 2003 Feb;72(2):364-74	CD36 polymorphism is associated with protection from cerebral malaria.		173510	1176	1	2003	Since exon 5 of the gene is known to encode the ligand-binding domain for P. falciparum-infected erythrocytes, in3(TG)(12) itself or a primary variant on the haplotype with in3(TG)(12) may be responsible for protection from cerebral malaria in Thailand. Results of the present study suggest that LD mapping has potential for detecting a disease-associated variant on the basis of haplotype blocks.	Cohort 475 adult Thai patients with P. falciparum malaria										
118916	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		van Veen, T.  et al. 2003	12864988				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			CDC GDPinfo	940	Hs.591629			Journal of neuroimmunology. 2003 Jul;140(2-Jan):188-93	CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis.		186760	9569	2	2003	These data suggest that the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease.	Control:181:controls;Case:514 patients with multiple sclerosis										
118917		diabetes, type 1; celiac disease; myasthenia gravis	IMMUNE	IMM		2	2q33	CD28	204279442	204310801		Guzman, V. B.  et al. 2005	16112024				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			CDC GDPinfo	940	Hs.591629			Human immunology. 2005 Jul;66(7):773-6	Characterization of CD28, CTLA4, and ICOS polymorphisms in three Brazilian ethnic groups.		186760	11529	2	2005												
118918	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Popat, S.  et al. 2002	12059054				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1		Sweden	CDC GDPinfo	940	Hs.591629			Scandinavian journal of gastroenterology. 2002 May;37(5):536-9	Mutational analysis of CD28 in coeliac disease.		186760	15692	2	2002	 There is no evidence from this study that mutations in CD28, which lead to an altered protein, contribute to coeliac disease susceptibility.	Cohort 52 children with biopsy proven coeliac disease attending one Swedish centre Sweden 										
118919		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Piras, G.  et al. 2005	15953005				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			CDC GDPinfo	940	Hs.591629			British journal of haematology. 2005 Jun;129(6):784-90	Genetic analysis of the 2q33 region containing CD28-CTLA4-ICOS genes: association withnon-Hodgkin's lymphoma.		186760	17624	2	2005												
118912	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		van Veen T 2003	12864988				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			KGB	940	Hs.591629			Journal of neuroimmunology. 2003 Jul;140(2-Jan):188-93	CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis.		186760	1162	1	2003	These data suggest that the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease.	Control:181:controls;Case:514 patients with multiple sclerosis										
118913		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CD28	204279442	204310801		Owerbach D 2004	9166681				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			Y Wang	940	Hs.591629			Diabetes. 1997 Jun;46(6):1069-74	Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35.		186760	1163	1	2004												
118915		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Ihara, K.  et al. 2001	11685455				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1	Japanese	Japan	CDC GDPinfo	940	Hs.591629			Immunogenetics. 2001 Aug;53(6):447-54	Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population		186760	9543	2	2001	Of the three genes encoding co-stimulatory molecules, the CTLA-4 gene appears to confer risks for the development of type 1 diabetes.	Case Japanese type 1 diabetic patients;Control not specified in abstract										
118908	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Encephalomyelitis, Autoimmune, Experimental|Disease Progression|Genetic Predisposition to Disease	Y	6q21	CD24	19611913	19614093		Zhou, Q.  et al. 2003	14657362				CD24 antigen (small cell lung carcinoma cluster 4 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013230.2			CDC GDPinfo	934	Hs.375108			Proceedings of the National Academy of Sciences of the United States of America. 2003 Dec;100(25):15041-6	CD24 is a genetic modifier for risk and progression of multiple sclerosis.		600074	15691	2	2003	Thus, CD24 polymorphism is a genetic modifier for susceptibility and progression of MS in the central Ohio cohort that we studied, perhaps by affecting the efficiency of CD24 expression on the cell surface.	Control:207 population controls;Case:242 multiple sclerosis patients										
118909	N	Asthma. Atopy. specific IgE. total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CD28	204279442	204310801	n	Heinzmann A 2000	10792419	T19int3C			CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1	German		KCB	940	Hs.591629			European journal of immunogenetics. 2000 Apr;27(2):57-61			186760	1159	1	2000	We conclude that  neither gene is likely to exert a major influence on the development of asthma or atopy in our population. However, it might prove useful to test for association of these polymorphisms with asthma in populations recruited through asthmatic but not necessarily atopic individuals.											
118910	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801	n	Nakao 2000	11096256	T19int3C			CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			KCB	940	Hs.591629			Experimental and clinical immunogenetics. 2000 ;17(4):179-84			186760	1160	1	2000												
118911	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801	n	Wood JP et al. 2002	12121283				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			KGB	940	Hs.591629			European journal of immunogenetics. 2002 Aug;29(4):347-9	A recently described polymorphism in the CD28 gene on chromosome 2q33 is not associated with susceptibility to type 1 diabetes.		186760	1161	1	2002												
118905	Y	SARS infection	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	19	19p13	CLEC4M	7734080	7740491	0.027	Chan VS et al. 2006	16369534		cells homozygous for L-SIGN show higher binding capacity for SARS-CoV, higher proteasome-dependent viral degradation and a lower capacity for trans infection. Thus, homozygosity for L-SIGN plays a protective role during SARS infection.		C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3	Hong Kong	Hong Kong	KGB	10332	Hs.421437	protection from SARS infection		Nature genetics. 2006 Jan;38(1):38-46	Homozygous L-SIGN (CLEC4M) plays a protective role in SARS coronavirus infection		605872	6662	1	2006		Case:285; Control:843										
118906		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	19	19p13	CLEC4M	7734080	7740491		Kobayashi, N.  et al. 2002	12403912				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3	Japanese	Japan	CDC GDPinfo	10332	Hs.421437			Japanese journal of infectious diseases. 2002 Aug;55(4):131-3	Polymorphisms and haplotypes of the CD209L gene and their association with the clinical courses of HIV-positive Japanese patients.		605872	9413	2	2002	Among HIV-infected patients, the A allele in intron 5 at IMS-JST025124 was associated with the higher number of lowest CD4+ cell counts during the whole clinical course. In 44 patients, whose CD4+ cells were counted on more than three occassions before the start of anti-retroviral treatment, this A allele was again associated with the higher number of the lowest CD4 cell counts during untreated periods.	Control:56 uninfected individuals;Case:59 HIV-infected patients:Japan										
118907	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Encephalomyelitis, Autoimmune, Experimental|Disease Progression|Genetic Predisposition to Disease	Y	6q21	CD24	19611913	19614093	0.023	Zhou Q 2003	14657362	The reported SNP for CD24 is a replacement of T at nucleotide 226 by C (TC) in the coding region of exon 2 , which results in a substitution of Ala at amino acid 57 by Val near the GPI anchorage site of the mature protein.		coding sequence	CD24 antigen (small cell lung carcinoma cluster 4 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013230.2	central Ohio (US) cohort		KGB	934	Hs.375108	50% of CD24v/v patients with expanded disability status scale 6.0 reached the milestone in 5 years, whereas the CD24a/v (P = 0.00037) and CD24a/a (P = 0.0016) patients did so in 16 and 13 years, respectively.		Proceedings of the National Academy of Sciences of the United States of America. 2003 Dec;100(25):15041-6	CD24 is a genetic modifier for risk and progression of multiple sclerosis.		600074	1158	1	2003	Thus, CD24 polymorphism is a genetic modifier for susceptibility and progression of MS in the central Ohio cohort that we studied, perhaps by affecting the efficiency of CD24 expression on the cell surface.	Control:207 population controls;Case:242 multiple sclerosis patients										
118902	Y	HIV	INFECTION	INF	HIV Infections	19	19p13	CD209	7710881	7718406		Martin, M. P.  et al. 2004	15564514			promoter	CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2			CDC GDPinfo	30835	Hs.278694			Journal of virology. 2004 Dec;78(24):14053-6	Association of DC-SIGN promoter polymorphism with increased risk for parenteral, but not mucosal, acquisition of human immunodeficiency virus type 1 infection.		604672	9308	2	2004	A potential role for DC-SIGN specific to systemic acquisition and dissemination of infection is suggested.	Cohort 1,611 European-American participants at risk for parenteral (n = 713) or mucosal (n = 898) infection 										
118903	Y	dengue disease	INFECTION	INF	Dengue	19	19p13	CD209	7710881	7718406		Sakuntabhai, A.  et al. 2005	15838506			promoter	CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2			CDC GDPinfo	30835	Hs.278694			Nature genetics. 2005 May;37(5):507-13	A variant in the CD209 promoter is associated with severity of dengue disease.		604672	15690	2	2005	These results indicate that CD209 has a crucial role in dengue pathogenesis, which discriminates between severe dengue fever and dengue hemorrhagic fever. This may have consequences for therapeutic and preventive strategies.	Case dengue fever and dengue hemorrhagic fever cases;Control:controls;Case individuals from 3 independent cohorts:Thailand										
118904		clinical courses of HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	19	19p13	CD209L	7734080	7739461		Kobayashi N et al. 2002	12403912				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_214677	Japanese	Japan	KGB	10332	Hs.421437			Japanese journal of infectious diseases. 2002 Aug;55(4):131-3	Polymorphisms and haplotypes of the CD209L gene and their association with the clinical courses of HIV-positive Japanese patients.		605872	6661	1	2002												
118899		pulmonary disease, Mycobacterium malmoense	CARDIOVASCULAR	CARD	Mycobacterium Infections|Lung Diseases	1	1q22-q23	CD1C	156526186	156531188		Jones, D. C.  et al. 2001	11580851				CD1C antigen, c polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001765.1			CDC GDPinfo	911	Hs.1311			Tissue antigens. 2001 Jul;58(1):19-23	CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.		188340	24127	2	2001	No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.	Control:342 normal controls;Case:49 HIV-negative patients with M. malmoense pulmonary:disease										
118900		pulmonary disease, Mycobacterium malmoense	CARDIOVASCULAR	CARD	Mycobacterium Infections|Lung Diseases	1	1q22-q23	CD1D	156416360	156422840		Jones, D. C.  et al. 2001	11580851				CD1D antigen, d polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001766.2			CDC GDPinfo	912	Hs.1799			Tissue antigens. 2001 Jul;58(1):19-23	CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.		188410	25874	2	2001	No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.	Control:342 normal controls;Case:49 HIV-negative patients with M. malmoense pulmonary:disease										
118901		pulmonary disease, Mycobacterium malmoense	CARDIOVASCULAR	CARD	Mycobacterium Infections|Lung Diseases	1	1q22-q23	CD1E	156590163	156593967		Jones, D. C.  et al. 2001	11580851				CD1E antigen, e polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030893.1			CDC GDPinfo	913	Hs.249217			Tissue antigens. 2001 Jul;58(1):19-23	CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.		188411	26806	2	2001	No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.	Control:342 normal controls;Case:49 HIV-negative patients with M. malmoense pulmonary:disease										
118896	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164		Tsuchiya, N.  et al. 2004	15593213				CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4			CDC GDPinfo	930	Hs.632193			Arthritis and rheumatism. 2004 Dec;50(12):4002-7	Association of a functional CD19 polymorphism with susceptibility to systemic sclerosis.		107265	9307	2	2004	 The CD19 -499G>T polymorphism is associated with higher CD19 expression in B cells, and with susceptibility to SSc.	Case:134 patients with systemic sclerosis;Control:96 healthy individuals recruited at Kanazawa:Univeristy										
118897		pulmonary disease, Mycobacterium malmoense	CARDIOVASCULAR	CARD	Mycobacterium Infections|Lung Diseases	1	1q22-q23	CD1A	156490550	156494682		Jones, D. C.  et al. 2001	11580851				CD1a antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001763.1			CDC GDPinfo	909	Hs.1309			Tissue antigens. 2001 Jul;58(1):19-23	CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.		188370	15689	2	2001	No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.	Control:342 normal controls;Case:49 HIV-negative patients with M. malmoense pulmonary:disease										
118898		pulmonary disease, Mycobacterium malmoense	CARDIOVASCULAR	CARD	Mycobacterium Infections|Lung Diseases	1	1q22-q23	CD1B	156564363	156567945		Jones, D. C.  et al. 2001	11580851				CD1b antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001764.1			CDC GDPinfo	910	Hs.1310			Tissue antigens. 2001 Jul;58(1):19-23	CD1 genotyping of patients with Mycobacterium malmoense pulmonary disease.		188360	20754	2	2001	No significant difference was observed between the patient and control cohorts. Positive linkage disequilibrium values of 0.73 were observed between CD1A*02 and CD1E*01 (P<0.0001; chi2 test), and 0.94 between CD1A*01 and CD1E*02 (P<0.0001; chi2 test). Typing was also performed for two previously described CD1D alleles (CD1D*01 and CD1D*02), although only CD1D*01 was detected.	Control:342 normal controls;Case:49 HIV-negative patients with M. malmoense pulmonary:disease										
118893	Y	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164	0.006	Kuroki K et al.2002	12215898	GT repeat		3'untranslated	CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4	Japanese	California|Japan	Tsuchiya N	930	Hs.632193			Genes and immunity. 2002 Oct;3 Suppl 1:S21-30	Polymorphisms of human CD19 gene: possibleassociation with susceptibility to systemic lupus erythematosus in Japanese.		107265	1154	1	2002	These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT)(15-18), may be associated with susceptibility to SLE in Japanese.	Case two groups of Japanese SLE patients, rheumatoid arthritis, and Crohn's disease patients;Control:controls										
118894	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164	n	Kuroki K et al.2002	12215898				CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4	Japanese	California|Japan	Tsuchiya N	930	Hs.632193			Genes and immunity. 2002 Oct;3 Suppl 1:S21-30	Polymorphisms of human CD19 gene: possibleassociation with susceptibility to systemic lupus erythematosus in Japanese.		107265	1155	1	2002	These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT)(15-18), may be associated with susceptibility to SLE in Japanese.	Case two groups of Japanese SLE patients, rheumatoid arthritis, and Crohn's disease patients;Control:controls										
118895	Y	rheumatoid arthritis; Crohn's disease; systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164		Kuroki, K.  et al. 2002	12215898				CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4	Japanese	California|Japan	CDC GDPinfo	930	Hs.632193			Genes and immunity. 2002 Oct;3 Suppl 1:S21-30	Polymorphisms of human CD19 gene: possibleassociation with susceptibility to systemic lupus erythematosus in Japanese.		107265	9306	2	2002	These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT)(15-18), may be associated with susceptibility to SLE in Japanese.	Case two groups of Japanese SLE patients, rheumatoid arthritis, and Crohn's disease patients;Control:controls										
118890		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	5	5q22-q32	CD14	139991500	139993439		Zee, R. Y.  et al. 2002	12082592				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		158120	28372	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
118891	Y	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164	0.006	Kuroki K et al.2002	12215898	GT repeat		3'untranslated	CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4	Japanese	California|Japan	Tsuchiya N	930	Hs.632193			Genes and immunity. 2002 Oct;3 Suppl 1:S21-30	Polymorphisms of human CD19 gene: possibleassociation with susceptibility to systemic lupus erythematosus in Japanese.		107265	1152	1	2002	These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT)(15-18), may be associated with susceptibility to SLE in Japanese.	Case two groups of Japanese SLE patients, rheumatoid arthritis, and Crohn's disease patients;Control:controls										
118892	N	Crohn's disease	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164	n	Kuroki K et al.2002	12215898				CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4	Japanese	California|Japan	Tsuchiya N	930	Hs.632193			Genes and immunity. 2002 Oct;3 Suppl 1:S21-30	Polymorphisms of human CD19 gene: possibleassociation with susceptibility to systemic lupus erythematosus in Japanese.		107265	1153	1	2002	These results suggested that either the slight reduction in the CD19 mRNA level associated with the elongation of GT repeat, or an allele of another locus in linkage disquilibrium with CD19 (GT)(15-18), may be associated with susceptibility to SLE in Japanese.	Case two groups of Japanese SLE patients, rheumatoid arthritis, and Crohn's disease patients;Control:controls										
118887		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Gazouli, M.  et al. 2005	15655821				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Greek	Greece	CDC GDPinfo	929	Hs.163867			World journal of gastroenterology. 2005 Feb;11(5):681-5	Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population		158120	20751	2	2005	 Our results indicate that co-existence of a mutation in either the TLR4 or CD14 gene, and in NOD2/CARD15 is associated with an increased susceptibility to developing CD compared to UC, and to developing either CD or UC compared to healthy individuals.	Control:100 healthy individuals;Case:120/85 Greek patietns with Crohn's disease (n=120) and ulcerative colitis (n=85)										
118888		necrotizing enterocolitis	INFECTION	INF	Enterocolitis, Necrotizing|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439			16385250				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of pediatric gastroenterology and nutrition. 2006 Jan;42(1):27-31	Genetic Polymorphisms of CD14, Toll-like Receptor 4, and Caspase-Recruitment Domain 15 Are Not Associated with Necrotizing Enterocolitis in Very Low Birth Weight Infants		158120	20752	2	2006	 Carrier state of the tested CD14, TLR4, and CARD15 SNPs is not associated with NEC risk in VLBW infants.											
118889		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Crohn Disease	5	5q22-q32	CD14	139991500	139993439		Arnott, I. D.  et al. 2004	15190267				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Irish	Scotland|Ireland	CDC GDPinfo	929	Hs.163867			Genes and immunity. 2004 Aug;5(5):417-25	NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence forgenetic heterogeneity within Europe?		158120	20753	2	2004	In conclusion, we present compelling evidence for genetic heterogeneity within Europe. These NOD2/CARD15 variants have a minor contribution in Scottish and Irish CD patients, consistent with an emerging pattern from Northern Europe.Genes and Immunity advance online publication, 10 June 2004;	Control:304:controls;Case:612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD:Scotland, Ireland										
118884	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Klein, W.  et al. 2003	12940436				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Scandinavian journal of gastroenterology. 2003 Aug;38(8):834-6	Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.		158120	20748	2	2003	 Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.	Control:controls;Case:253 patients with Crohn's disease										
118885		Crohn's disease	IMMUNE	IMM	Crohn Disease	5	5q22-q32	CD14	139991500	139993439		Leung, E.  et al. 2005	16174099				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Immunology and cell biology. 2005 Oct;83(5):498-503	Polymorphisms of CARD15/NOD2 and CD14 genes in New Zealand Crohn's disease patients.		158120	20749	2	2005												
118886		preterm delivery	REPRODUCTION	REP	Premature Birth	5	5q22-q32	CD14	139991500	139993439		Hartel, C.  et al. 2004	15516360				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Molecular human reproduction. 2004 Dec;10(12):911-5	Polymorphisms of genes involved in innate immunity:association with preterm delivery		158120	20750	2	2004	The overall influence of the investigated polymorphisms on the development of preterm delivery seems moderate, since only the maternal IL6-174G genotype was associated with preterm birth and none of the polymorphisms were associated with intrauterine infection as the cause of preterm birth.	Control:491 term-born infants;Case:909 preterm very-low-birth-weight infants										
118881		asthma	IMMUNE	IMM	Asthma|Acute Disease	5	5q22-q32	CD14	139991500	139993439			16387800				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of respiratory and critical care medicine. 2005	Acute Asthma in Children: Relationship Between CD14and CC16 Genotype, Plasma Levels and Severity		158120	15688	2	2005	 Plasma levels of sCD14 and CC16 were higher during acute asthma in the subjects. Those with CD14 -159CC and CC16 38AA had no change in sCD14 and CC16 levels and more severe asthma.											
118882	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Combarros, O.  et al. 2005	15854776				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		158120	20746	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
118883		sepsis	INFECTION	INF	Sepsis	5	5q22-q32	CD14	139991500	139993439		Ahrens, P.  et al. 2004	14739370				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Pediatric research. 2004 Apr;55(4):652-6	Mutations of Genes Involved in the Innate Immune System as Predictors of Sepsis in Very Low Birth Weight Infants		158120	20747	2	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants 										
118877		IgE levels	IMMUNE	IMM	Asthma	5	5q22-q32	CD14	139991500	139993439		Wang, J. Y.  et al. 2004	15602630				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Taiwanese	Taiwan	CDC GDPinfo	929	Hs.163867			Journal of human genetics. 2005 ;50(1):36-41	Association study using combination analysis of SNP and STRP markers: CD14 promoter polymorphism andIgE level in Taiwanese asthma children.		158120	15684	2	2004	The CD14/-2984 polymorphism but not the CD14/-159 is associated with IgE level in Taiwanese asthmatic children. The CD14/-159 allele was observed only to be associated with IgE level when -159T was part of a haplotype containing a D5S2011 E allele. The combination analysis using SNP and STRP markers provided a novel method for increasing detection power in candidate gene association studies.	Case:105 Taiwanese asthma children with High-IgE-level:Taiwan;Control:85 Taiwanese asthma children with normal-IgE-level										
118878		asthma	IMMUNE	IMM	Asthma	5	5q22-q32	CD14	139991500	139993439		Choudhry, S.  et al. 2005	15879416				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of respiratory and critical care medicine. 2005 Jul;172(2):173-82	CD14-Tobacco Gene-Environment Interaction Modify Asthma Severity and IgE Levels in Latino Asthmatics		158120	15685	2	2005	 Our data suggest a gene-by-environment interaction between CD14 genotypes and ETS, which affects pulmonary function and IgE levels among Latinos with asthma.	Cohort 72 Puerto Rican, Mexican and African American asthmatics 										
118879		cystic fibrosis	OTHER	OTH	Pseudomonas Infections|Pneumonia, Bacterial|Cystic Fibrosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Martin, A. C.  et al. 2005	15975149	(C-159-->T)			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Respiratory research. 2005 Jun;6(1):63	CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis.		158120	15686	2	2005												
118874		appendicitis	INFECTION	INF	Appendicitis|Acute Disease	5	5q22-q32	CD14	139991500	139993439		Rivera-Chavez, F. A.  et al. 2004	15273551				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Annals of surgery. 2004 Aug;240(2):269-77	Innate immunity genes influence the severity of acute appendicitis.		158120	15681	2	2004	 Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.	Cohort 134 patients with acute appendicitis treated at an urban hospital 										
118875		CD14 levels	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Guerra, S.  et al. 2004	15373760				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of reproductive immunology (New York, NY :  1989). 2004 Sep;52(3):204-11	The differential effect of genetic variation on soluble CD14 levels in human plasma and milk		158120	15682	2	2004	 Our findings suggest the existence of cell-specific regulation mechanisms of CD14 gene expression.	Cohort 196/152 women during pregnancy (n = 196) and in milk in the postpartum (n = 152) 										
118876	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease|Disease Progression|Multiple Organ Failure	5	5q22-q32	CD14	139991500	139993439		Rahman, S. H.  et al. 2004	15599151				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Critical care medicine. 2004 Dec;32(12):2457-63	Soluble CD14 receptor expression and monocyte heterogeneity but not the C-260T CD14 genotype are associated with severe acute pancreatitis.		158120	15683	2	2004	 Increased soluble CD14 expression is associated with the systemic inflammatory response to acute pancreatitis and an expansion of the proinflammatory CD14+/CD16+ monocyte subset. Its targeted disruption may afford some benefit in preventing the development of systemic complications.	Case:117 patients with pancreatitis (34 severe);Control:263:controls										
118871		atopy	IMMUNE	IMM	Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		O'Donnell, A. R.  et al. 2004	14617510				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		New South Wales	CDC GDPinfo	929	Hs.163867			American journal of respiratory and critical care medicine. 2004 Mar;169(5):615-22	Age-specific relationship between CD14 and atopy in a cohort assessed from age 8 to 25 years.		158120	15676	2	2004	These data suggest that the influence of CD14 -159C on the atopic phenotype may be age specific, exerting an effect during midchildhood, which is no longer apparent by early adulthood.	Cohort 305 children of the same age followed longitudinally over many years 										
118872	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	5	5q22-q32	CD14	139991500	139993439		Karhukorpi, J.  et al. 2003	14672339				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of reproductive immunology (New York, NY :  1989). 2003 Oct;50(4):346-50	Searching for links between endotoxin exposure and pregnancy loss: CD14 polymorphism in idiopathicrecurrent miscarriage.		158120	15677	2	2003	 Although we were not able to find a statistically significant association between CD14 genotypes and IRM in our relatively small study population, a further study with a larger sample size is warranted to explore the role of high-producing CD14 genotypes in IRM. Also studies highlighting environmental LPS triggers and other intrinsic mediators of LPS signalling are needed to solve the enigmatic role of LPS in IRM in humans.	Control:127 nromal controls;Case:38 Finnish women with idiopathic recurrent miscarriage										
118873	Y	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	5	5q22-q32	CD14	139991500	139993439		Tal, G.  et al. 2004	15143473				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of infectious diseases. 2004 Jun;189(11):2057-63	Association between common Toll-like receptor 4 mutations and severe respiratory syncytial virus disease.		158120	15679	2	2004	 These findings suggest that TLR4 mutations, but not the CD14/-159 polymorphism, are associated with an increased risk of severe RSV bronchiolitis in previously healthy infants.	Control:82/90 ambulatory infants with mild RSV bronchiolitis (n=82) and healthy adults (n=90);Case:99 infants hospitalized with severe RSV bronchiolitis										
118868		atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	5	5q22-q32	CD14	139991500	139993439		Elghannam, H.  et al. 2000	11199329				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		158120	15673	2	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study 	fluvastatin									
118869		smoking dependence	CHEMDEPENDENCY	CHEM		5	5q22-q32	CD14	139991500	139993439		Hubacek, J.  et al. 2002	12011764				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Medical science monitor. 2002 May;8(5):BR172-4	Is the CD14 receptor gene a marker for smoking dependence?		158120	15674	2	2002	 The C-159-->T polymorphism in the CD14 gene could be a genetic marker associated with smoking dependence, but confirmation in a large population study is necessary.	Cohort 135 representative selected male Caucasians 										
118870	Y	C-reactive protein	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Hubacek, J. A.  et al. 2003	12756848	(C-159-->T)			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Cas Lek Cesk. 2003 Mar;142(3):174-6	[In Process Citation]		158120	15675	2	2003	 CD14 C-159-->T polymorphism could be the first described genetic marker associated with plasma level of C-reactive protein.	Cohort 166 representatively selected male Caucasians with known plasma level of CRP 										
118865	N	Chlamydia	INFECTION	INF	Chlamydia Infections|Fallopian Tube Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439			16368002	C(-260)T		5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Dutch Caucasian		CDC GDPinfo	929	Hs.163867			BMC infectious diseases [electronic resource]. 2005 ;5:114	The CD14 functional gene polymorphism -260 C>T is not involved in either the susceptibility to Chlamydia trachomatis infection or the development of tubal pathology	rs2569190	158120	9303	2	2005	 The CD14 -260 C>T genotype distributions were identical in all three cohorts, showing that this polymorphism is not involved in the susceptibility to or severity of sequelae of C. trachomatis infection.									N		
118866		stroke, ischemic	CARDIOVASCULAR	CARD	Helicobacter Infections|Brain Ischemia|Cerebrovascular Accident|Atherosclerosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439			16386288	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Thrombosis research Supplement. 2005	Helicobacter pylori infection and the CD14 C(-260)T gene polymorphism in ischemic stroke		158120	9305	2	2005	 These results suggest that H. pylori infection is a risk factor for ischemic stroke and that CD14 polymorphism is not.		Helicobacter pylori									
118867	Y	liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Martins, A.  et al. 2005	16148556				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European journal of gastroenterology & hepatology. 2005 Oct;17(10):1099-104	Are genetic polymorphisms of tumour necrosis factor alpha, interleukin-10, CD14 endotoxin receptor or manganese superoxide dismutase associated with alcoholic liver disease?		158120	14049	2	2005	 No association was found between the previously implicated polymorphisms of TNF-alpha, IL-10, CD14 and MnSOD, either individually or simultaneously, and the presence of established ALD.											
118861		cirrhosis, alcoholic; hepatitis C	UNKNOWN	UNK	Hepatitis C, Chronic|Liver Diseases, Alcoholic	5	5q22-q32	CD14	139991500	139993439		Meiler, C.  et al. 2005	16273620				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			World journal of gastroenterology. 2005 Oct;11(38):6031-7	Different effects of a CD14 gene polymorphism on disease outcome in patients with alcoholic liver disease and chronic hepatitis C infection.		158120	9299	2	2005	 Considering serum transaminases as surrogate markers for alcoholic liver damage, the CD14 polymorphism seems to exhibit different effects during the course of ALD. Differences in genotype distribution between cirrhotic HCV patients and alcoholics and the known functional impact of this polymorphism on CD14 expression levels further indicate differences in the pathophysiological role of CD14 and CD14-mediated lipopolysaccharides signal transduction with regard to the stage as well as the type of the underlying liver disease.											
118862		alcoholism; cirrhosis; esophageal cancer; pancreatitis, acute	CANCER	CAN	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	5	5q22-q32	CD14	139991500	139993439		Chao, Y. C.  et al. 2005	16273622			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Chinese		CDC GDPinfo	929	Hs.163867			World journal of gastroenterology. 2005 Oct;11(38):6043-8	CD14 promoter polymorphism in Chinese alcoholic patients with cirrhosis of liver and acute pancreatitis.		158120	9300	2	2005	 The C allele may be associated with some mechanism, which is important in the pathogenesis of alcoholic pancreatitis, and that alcoholic patients with acute pancreatitis and cirrhosis of liver are probably two different subpopulations.											
118863		asthma; allergen sensitization	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Tan, C. Y.  et al. 2005	16292464			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of human genetics. 2006 ;51(1):59-67	Association of CD14 promoter polymorphisms and soluble CD14 levels in mite allergen sensitization of children in Taiwan.		158120	9301	2	2005												
118856		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Inflammation	5	5q22-q32	CD14	139991500	139993439		Rylander, R.  et al. 2005	16142747				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Sweden	CDC GDPinfo	929	Hs.163867			American journal of industrial medicine. 2005 Oct;48(4):302-7	Organic dust induced inflammation--role of atopy and TLR-4 and CD14 gene polymorphisms.		158120	9293	2	2005			endotoxin									
118858	Y	CD14 expression	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Lin, J.  et al. 2005	16194368				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Aug;43(15):1024-7	[CD14 genomic polymorphism influences CD14 expression in whole blood culture]		158120	9296	2	2005	 The -159C/T promoter polymorphism of the LPS receptor CD14 may influence the CD14 expression as well as release in whole blood culture, and it might be associated with TNF-alpha response to LPS stimulation.											
118859		periodontitis	IMMUNE	IMM	Periodontitis|Disease Susceptibility|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Laine, M. L.  et al. 2005	16246938				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of dental research. 2005 Nov;84(11):1042-6	CD14 and TLR4 Gene Polymorphisms in Adult Periodontitis.		158120	9297	2	2005	We conclude that  the CD14-260T/T genotype contributes to the susceptibility to severe periodontitis in Dutch Caucasians.											
118852	Y	cholestasis; biliary atresia	METABOLIC	MET	Biliary Atresia|Cholestasis|Liver Cirrhosis	5	5q22-q32	CD14	139991500	139993439		Shih, H. H.  et al. 2005	16061600			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Pediatrics. 2005 Aug;116(2):437-41	Promoter polymorphism of the CD14 endotoxin receptor gene is associated with biliary atresia and idiopathic neonatal cholestasis.		158120	9289	2	2005	 These findings show that the single-nucleotide polymorphism at CD14/-159 is associated with the development of BA and INC. Endotoxin susceptibility may play a role in the pathogenesis of infantile cholestasis.											
118853	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	5	5q22-q32	CD14	139991500	139993439		Guo, Q. S.  et al. 2005	16085746				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Chinese		CDC GDPinfo	929	Hs.163867			Postgraduate medical journal. 2005 Aug;81(958):526-9	Polymorphisms of CD14 gene and TLR4 gene are not associated with ulcerative colitis in Chinese patients.		158120	9290	2	2005												
118855	Y	heart failure	CARDIOVASCULAR	CARD		5	5q22-q32	CD14	139991500	139993439		Kruger, S.  et al. 2005	16137548	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European journal of internal medicine. 2005 Sep;16(5):345-7	CD14 gene -260 C/T polymorphism is associated with chronic heart failure.		158120	9292	2	2005	 The C -260T polymorphism of CD14 seems to influence the susceptibility for the development of CHF. The T allele is less frequent among CHF patients than among controls. The TT genotype could be a new genetic protective factor against the development of CHF.											
118848		Crohn's disease	IMMUNE	IMM	Crohn Disease|Disease Susceptibility	5	5q22-q32	CD14	139991500	139993439		Griga, T.  et al. 2005	15966209				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Hepato-gastroenterology. 2005 May-Jun;52(63):808-11	CD14 expression on monocytes and soluble CD14 plasma levels in correlation to the promotor polymorphism of the endotoxin receptor CD14 gene in patients with inactive Crohn's disease.		158120	9285	2	2005	 Our data show that the membrane-bound CD14 monocyte expression and the soluble CD14 plasma levels in patients with inactive Crohn's disease completely differ from that in healthy individuals. In order to develop individualized therapy strategies further studies should be carried out to evaluate whether the TT genotype is associated with differences in the clinical course of Crohn's disease and in the response to antibacterial treatment.											
118849		pancreatitis; sepsis	IMMUNE	IMM	Shock, Septic|Pancreatitis|Acute Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Zhang, D. L.  et al. 2005	16038043				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			World journal of gastroenterology. 2005 Jul;11(28):4409-13	Association of polymorphisms of IL and CD14 genes with acute severe pancreatitis and septic shock.		158120	9286	2	2005	 IL-10-1082G plays an important role in the susceptibility of SAP patients to septic shock. Genetic factors are not important in determination of disease severity or susceptibility to AP.											
118851		sepsis	INFECTION	INF	Sepsis|Critical Illness	5	5q22-q32	CD14	139991500	139993439		Nakada, T. A.  et al. 2005	16051275				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese	Japan	CDC GDPinfo	929	Hs.163867			The Journal of surgical research. 2005 Dec;129(2):322-8	Influence of Toll-like Receptor 4, CD14, Tumor Necrosis Factor, and Interleukine-10 Gene Polymorphisms on Clinical Outcome in Japanese Critically Ill Patients.		158120	9288	2	2005												
118844	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Genetic Predisposition to Disease|Inflammation	5	5q22-q32	CD14	139991500	139993439		Morange, P. E.  et al. 2005	15777548				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Atherosclerosis. 2005 Apr;179(2):317-23	Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on the risk of myocardial infarction: the HIFMECH study.		158120	9279	2	2005	The data indicate a role for CD14/C-260T in MI. The risk mediated by the polymorphism is highly dependent on IL-6 plasma levels.	Case:533 men with myocardial infarct;Control:575 sex- and age-matched controls										
118845	Y	dermatitis and eczema	IMMUNE	IMM	Eczema	5	5q22-q32	CD14	139991500	139993439		Litonjua, A. A.  et al. 2005	15867866				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		New England	CDC GDPinfo	929	Hs.163867			The Journal of allergy and clinical immunology. 2005 May;115(5):1056-62	Polymorphisms in the 5' region of the CD14 gene are associated with eczema in young children		158120	9282	2	2005	 Our results contradict previous reports that have found a protective effect of the T allele of SNP rs2569190 (C-159T) against atopic disorders. Nevertheless, these results confirm the importance of polymorphisms in CD14 in the development of atopy, and future studies of this gene region will need to account for linkage disequilibrium and environmental exposures unique to the study population.	Cohort 244 2-year-old white children from 2 birth cohorts northeastern United States 										
118846		asthma	IMMUNE	IMM	Asthma	5	5q22-q32	CD14	139991500	139993439		Zambelli-Weiner, A.  et al. 2005	15940135	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Barbados	CDC GDPinfo	929	Hs.163867			The Journal of allergy and clinical immunology. 2005 Jun;115(6):1203-9	Evaluation of the CD14/-260 polymorphism and house dust endotoxin exposure in the Barbados Asthma Genetics Study.		158120	9283	2	2005	 These data suggest that the CD14-260 polymorphism may play a role in controlling risk to atopic disease and underscore the importance of incorporating key environmental exposures into studies of genetic risk factors.		house dust									
118841	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439		Kedda, M. A.  et al. 2005	15741437	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Australian	Australia	CDC GDPinfo	929	Hs.163867			Thorax. 2005 Mar;60(3):211-4	The CD14 C-159T polymorphism is not associated with asthma or asthma severity in an Australian adult population.		158120	9276	2	2005	 This study confirms that there is no association between the CD14 C-159T polymorphism and asthma or asthma severity and a weak association between this polymorphism and atopy in an adult population.	Case:264/115/79 mild (n = 264), moderate (n = 225) and severe (n = 79) Caucasian asthmatic patients:Australia;Control:443 non-asthmatic controls										
118842	Y	systemic inflammatory response syndrome	IMMUNE	IMM	Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	5	5q22-q32	CD14	139991500	139993439		Sutherland, A. M.  et al. 2005	15753758				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		British Columbia	CDC GDPinfo	929	Hs.163867			Critical care medicine. 2005 Mar;33(3):638-44	Polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of infection in critically ill adults.		158120	9277	2	2005	 Single nucleotide polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of positive bacterial cultures and sepsis but not with altered prevalence of septic shock or decreased 28-day survival. Furthermore, CD14 single nucleotide polymorphisms were associated with Gram-negative bacteria and Toll-like receptor-2 with Gram-positive bacteria, whereas mannose-binding lectin was not associated with a particular organism class. Thus, single nucleotide polymorphisms in innate immunity receptors may alter recognition and clearance of bacteria without changing outcomes of critically ill adults with systemic inflammatory response syndrome.	Cohort 252 critically ill Caucasians with systemic inflammatory response syndrome 										
118843	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Peters, K.  et al. 2005	15764151	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian	Australia	CDC GDPinfo	929	Hs.163867			Scandinavian journal of gastroenterology. 2005 Feb;40(2):194-7	Lack of association of the CD14 promoter polymorphism--159C/T with Caucasian inflammatory bowel disease.		158120	9278	2	2005	 It is possible that the association seen in other studies may be due to population stratification or to the CD14 polymorphism being in linkage with the real disease-causing variant(s).	Case:110 sporadic inflammatory bowel disease patients:Australia;Control:189 healthy individuals										
118838	Y	cardiovascular disease; carotid artery damage	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Kidney Failure, Chronic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Losito, A.  et al. 2005	15640605	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Blood purification. 2005 ;23(2):128-33	Association of the -159C/T Polymorphism of the Endotoxin Receptor (CD14) with Carotid Artery Disease and Cardiovascular Mortality in Dialysis Patients		158120	9272	2	2005	 These results demonstrate an association between the -159 C/T polymorphism of the CD14 gene and carotid artery disease in dialysis patients. We hypothesize that the low plasma clearance of endotoxin associated with the CC genotype facilitates the atherogenic action of endotoxin-derived cytokines in haemodialysis patients.	Case:158 hemodialysis patients;Control:168 healthy controls										
118839	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		van der Paardt, M.  et al. 2005	15647432				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Annals of the rheumatic diseases. 2005 Feb;64(2):235-8	No evidence for involvement of the Toll-like receptor 4 (TLR4) A896G and CD14-C260T polymorphisms in susceptibility to ankylosing spondylitis.		158120	9273	2	2005	 There is no evidence for involvement of the CD14 C-260T or TLR4 A896G polymorphisms in susceptibility to AS. An important role of bacteria and genetic predisposition of the innate immune system in cases of AS cannot be excluded by these findings. Therefore, studies of the surprisingly highly polymorphic candidate genes in this field should be continued.	Case:113 unrelated Caucasian Dutch ankylosing spondylitis:patients;Control:170 ethnically matched healthy controls										
118840	Y	atherosclerosis, coronary; acute coronary syndrome	CARDIOVASCULAR	CARD	Myocardial Infarction|Syndrome	5	5q22-q32	CD14	139991500	139993439		Arroyo-Espliguero, R.  et al. 2005	15686783	C(-260)T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			International journal of cardiology. 2005 Feb;98(2):307-12	CD14 C(-260)T promoter polymorphism and prevalence of acute coronary syndromes.		158120	9275	2	2005	 The CD14 C(-260)T polymorphism is associated with a history of ACS and it may represent a genetically determined risk factor for the development of ACS and atheromatous plaque vulnerability in angina patients.	Case:334 patients with coronary artery disease;Control:94 patients with normal coronary arteriogram										
118835	Y	periodontal disease	IMMUNE	IMM	Periodontitis	5	5q22-q32	CD14	139991500	139993439		Folwaczny, M.  et al. 2004	15491315	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of clinical periodontology. 2004 Nov;31(11):991-5	The CD14 -159C-to-T promoter polymorphism in periodontal disease		158120	9268	2	2004	 Herein, the C -159T promoter polymorphism of the CD14 gene was associated in female but not in male patients with periodontal disease.	Case:70 patients with periodontal disease;Control:75 healthy controls										
118836	N	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	0.095	Barber, R. C.  et al. 2004	15520404			5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of medical genetics. 2004 Nov;41(11):808-13	TLR4 and TNF-alpha polymorphisms are associated with an increased risk for severe sepsis following burn injury.	rs2569190	158120	9270	2	2004	 The TLR4 +896 and TNF-alpha -308 polymorphisms were significantly associated with an increased risk for severe sepsis following burn trauma.	Cohort 159 patients with burns >/=20% of their total body surface area or any smoke inhalation injury without significant non-burn related trauma or spinal cord injury, and survived >48 h post-admission 										
118837	Y	pulmonary function	CARDIOVASCULAR	CARD	Farmer's Lung|Airway Obstruction|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Levan, T. D.  et al. 2004	15591473				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of respiratory and critical care medicine. 2005 Apr;171(7):773-9	Polymorphisms in the CD14 gene associated with pulmonary function in farmers.		158120	9271	2	2004	 We conclude that the CD14/-159 or CD14/-1619 loci may play a role in modulating lung function and wheeze among agricultural workers.	Cohort 19/78/11/86 CD14/-159TT farmers (n = 19), farmers with the C allele (n = 78), farmers with the CD14/-1619GG genotype (n =11), farmers with the A allele (n = 86) 										
118832	Y	asthma	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Conjunctivitis, Allergic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Fageras Bottcher, M.  et al. 2004	15356557				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Swedish	Sweden	CDC GDPinfo	929	Hs.163867			The Journal of allergy and clinical immunology. 2004 Sep;114(3):561-7	A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children		158120	9265	2	2004	 A TLR4 polymorphism modifies innate immune responses in children and may be an important determinant for the development of asthma. This may influence the outcome of intervention studies that use microbial stimuli as immune modulators.	Cohort 115 Swedish children aged 8 and 14 years 										
118833	Y	kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Proteinuria|Graft vs Host Disease|Chronic Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Viklicky, O.  et al. 2004	15369724				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Clinical biochemistry. 2004 Oct;37(10):919-24	Association of methylenetetrahydrofolate reductase T677 allele with early development of chronic allograft nephropathy		158120	9266	2	2004	 The MTHFR T677 allele is associated with the presence of CAN in kidney graft biopsies 12 months after transplantation.	Control:365 normal controls;Case:92 kidney transplant recipients with stable renal fraft function and no signs of acute rejection										
118834	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Sharma, M.  et al. 2004	15378299	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Indian	India	CDC GDPinfo	929	Hs.163867			Immunogenetics. 2004 Oct;56(7):544-7	Suggestive evidence of association of C-159T functional polymorphism of the CD14 gene with atopic asthma in northern and northwestern Indian populations.		158120	9267	2	2004	These findings provide suggestive evidence of association of the CD14 gene locus with atopic asthma in northern and northwestern Indian populations.	Case:187 northern and northwestern Indian atopic asthmatics;Control:227 normal controls										
118829		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q22-q32	CD14	139991500	139993439		Torok, H. P.  et al. 2004	15207785				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Clinical immunology (Orlando, Fla). 2004 Jul;112(1):85-91	Polymorphisms of the lipopolysaccharide-signaling complex in inflammatory bowel disease: associationof a mutation in the Toll-like receptor 4 gene with ulcerative colitis		158120	9262	2	2004	In conclusion, a novel association between a functional polymorphism in TLR4 and ulcerative colitis is reported. This observation underscores the importance of impaired innate immunity in inflammatory bowel disease.	Case:102/98 patients with Crohn's disease (N=102) and patients with ulcerative colitis (n=98);Control:145 healthy controls										
118830	Y	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arteriosclerosis	5	5q22-q32	CD14	139991500	139993439		Amar, J.  et al. 2004	15257175	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of hypertension. 2004 Aug;22(8):1523-8	CD14 C(-260)T gene polymorphism, circulating soluble CD14 levels and arteriosclerosis.		158120	9263	2	2004	 Although (C260T) polymorphism in CD14 gene in this study is associated with expression of sCD14, no significant association was found between this polymorphism and early markers of atherosclerosis. This polymorphism affects plasma levels of sCD14 in relation to current smoking status. Further studies are needed to determine whether this interaction influences the deleterious effect of smoking on vascular events.	Cohort 899 subjects with complete data from 1,015 subjects, randomly recruited by the Toulouse MONICA center 1995 - 1997 	smoking (tobacco)									
118831	N	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Hung, J.  et al. 2004	15292769			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European journal of cardiovascular prevention and rehabilitation. 2004 Aug;11(4):344-9	Promoter polymorphism of the gene for CD14 receptor is not sub-clinical carotid atherosclerosis in a community population		158120	9264	2	2004	 The CD14-260C>T gene polymorphism was not associated with an increased risk of sub-clinical carotid atherosclerosis in a community population.	Cohort 557/553 a randomly selected population (557 men and 553 women; aged 27-77 years) 										
118826	Y	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Lin, J.  et al. 2004	15132789				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Zhongguo wei zhong bing ji jiu yi xue. 2004 May;16(5):271-3	[Association between a genomic polymorphism within the CD14 locus and severe sepsis susceptibility as well as prognosis in patients after extensive burns]		158120	9259	2	2004	 The single base pair polymorphism at position-159 in the CD14 gene promoter might influence the development of severe sepsis in patients with extensive burns.	Control:118 normal controls;Case:16 patients with burns covering more than 60% total body surface area										
118827	Y	Chlamydia	INFECTION	INF	Chlamydia Infections	5	5q22-q32	CD14	139991500	139993439		Eng, H. L.  et al. 2004	15164100			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Taiwan	CDC GDPinfo	929	Hs.163867			Genes and immunity. 2004 Aug;5(5):426-30	A CD14 promoter polymorphism is associated with CD14 expression and Chlamydia-stimulated TNFalpha production		158120	9260	2	2004	In conclusion, the single base pair polymorphism of CD14 promoter gene is associated with CD14 expression and Chlamydia-stimulated TNFalpha production, and may thus play some role in the chlamydia-induced inflammatory response.	Cohort Chinese subjects Taiwan 										
118828	Y	Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Rupp, J.  et al. 2004	15175649	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Genes and immunity. 2004 Aug;5(5):435-8	CD14 promoter polymorphism -159C>T is associated with susceptibility to chronic Chlamydia pneumoniae infection in peripheral blood monocytes.		158120	9261	2	2004	Susceptibility for chronic chlamydial infection of PBMC in CAD patients appears associated with the CD14-159C>T promoter polymorphism encoding for enhanced CD14 expression.	Cohort 610 coronary artery disease (CAD) patients of Central European background 	Chlamydia pneumoniae									
118823	Y	atopy	IMMUNE	IMM	Hypersensitivity	5	5q22-q32	CD14	139991500	139993439		Kabesch, M.  et al. 2004	15080833			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	German	Germany	CDC GDPinfo	929	Hs.163867			Allergy. 2004 May;59(5):520-5	A promoter polymorphism in the CD14 gene is associated with elevated levels of soluble CD14 but not with IgE or atopic diseases.		158120	9256	2	2004	 The lack of association between CD14 genotypes and IgE as well as atopic outcomes in this large German study population seems to indicate that CD14 genotypes may not directly be involved in the development of allergies during childhood.	Cohort 2,048/888 children of different age groups (n=2048) and adults (n=888) from different regions of germany 										
118824	N	Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Campylobacter Infections|Guillain-Barre Syndrome|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Geleijns, K.  et al. 2004	15081257				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of neuroimmunology. 2004 May;150(2-Jan):132-8	Functional polymorphisms in LPS receptors CD14 and TLR4 are not associated with disease susceptibility or Campylobacter jejuni infection in Guillain-Barre patients		158120	9257	2	2004	Comparison of the genotypes of 242 GBS patients and 210 healthy subjects showed that polymorphisms in CD14 and TLR4 did not confer disease susceptibility and were not associated with C. jejuni infection.	Control:210 healthy subjects;Case:242 Guillain-Barre syndrome patients										
118825	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Progression	5	5q22-q32	CD14	139991500	139993439		Agema, W. R.  et al. 2004	15116260				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Thrombosis and haemostasis. 2004 May;91(5):986-90	Pharmacogenetics of the CD14 endotoxin receptor polymorphism and progression of coronary atherosclerosis.		158120	9258	2	2004	We conclude, that the -159T/C polymorphism in the CD14 monocyte receptor gene was not associated with progression of coronary atherosclerosis in this population nor did it influence the efficacy of pravastatin in the treatment of atherosclerosis.	Cohort 759 patients recruited from the multi-center double-blind randomized placebo controlled REGRESS trial with objectivated coronary artery disease 	pravastatin									
118820	Y	sepsis; systemic inflammatory response syndrome	INFECTION	INF	Sepsis|Systemic Inflammatory Response Syndrome	5	5q22-q32	CD14	139991500	139993439		Yu, B. J.  et al. 2003	14720421			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Zhonghua yi xue za zhi. 2003 Dec;83(24):2132-6	[The associations of the single nucleotide polymorphisms on TNF and CD14 promoters with the mortality of infection, systematic inflammatory response syndromec and sepsis in surgical patients]		158120	9253	2	2003	 The A-allele at the -308 and -863 position in the TNF-alpha promoter and the T-allele at the -159 position in the CD14 promoter increase the risk for sepsis. The effect of SNP genotypes on TNF-alpha expression can modulate inflammatory response.	Control:100 healthy volunteers;Case:113 systematic inflammatory response syndrome patients, 40 complicated with sepsis										
118821	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Restenosis	5	5q22-q32	CD14	139991500	139993439		Shimada, K.  et al. 2004	14996480			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Japan	CDC GDPinfo	929	Hs.163867			International journal of cardiology. 2004 Mar;94(1):87-92	Promoter polymorphism in the CD14 gene and concentration of soluble CD14 in patients with in-stent restenosis after elective coronary stenting.		158120	9254	2	2004	 This study showed that the T/T genotype with a high level of sCD14 is an independent predictor of in-stent restenosis. The activation of monocytes/macrophages, endothelial cells and smooth muscle cells mediated by CD14 and/or sCD14 may play an important role in the restenosis processes.	Cohort 129 consecutive patients who underwent elective coronary stenting 										
118822		tuberculosis	INFECTION	INF	Tuberculosis|Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	5	5q22-q32	CD14	139991500	139993439		Pacheco, E.  et al. 2004	15039096			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			FEMS immunology and medical microbiology. 2004 Apr;40(3):207-13	CD14 gene promoter polymorphism in different clinical forms of tuberculosis		158120	9255	2	2004	Results suggest that sCD14 may be involved in anti-tuberculosis immune response, but its increase is a consequence of infection rather than a predisposed genetic trait. Measuring sCD14 in tuberculosis may help monitor anti-tuberculosis treatment.	Control:controls;Case tuberculosis patients										
118817	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Hohda, S.  et al. 2003	14587643				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese		CDC GDPinfo	929	Hs.163867			Japanese heart journal. 2003 Sep;44(5):613-22	Association study of CD14 polymorphism with myocardial infarction in a Japanese population.		158120	9250	2	2003	The frequencies of the T/T homozygotes were significantly higher in the patients (OR = 1.41, P = 0.013) than in the control group, confirming the association of CD14 polymorphism with MI in Japanese. Stratification analyses further demonstrated that the association was more prominent in females and in patients with a relatively low body mass index, suggesting that the contribution of the CD14-linked genetic risk to MI differs with respect to gender and habitual background.	Case:502 patients with myocardial infarction;Control:527:controls										
118818		liver function	OTHER	OTH	Obesity|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Poullis, A. P.  et al. 2003	14624155			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European journal of gastroenterology & hepatology. 2003 Dec;15(12):1317-22	Effect of the CD14 promoter polymorphism on liver function tests and its association with alcohol and obesity.		158120	9251	2	2003	 The TT promoter polymorphism was associated with reduced serum levels of alanine aminotransferase, gamma-glutamyl transferase and aspartate aminotransferase in healthy patients, and a low level of liver function test abnormalities. The relationship with gamma-glutamyl transferase stands after correction for age, gender, obesity and alcohol consumption. This raises the possibility that this genotype may offer protection from the development of fatty liver disease.	Cohort 310 subjects randomly recruited from general practitioners list Surrey, UK 										
118819	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Longobardo, M. T.  et al. 2003	14648231	C(-260)T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Clinical and experimental medicine. 2003 Nov;3(3):161-5	The C(-260)>T gene polymorphism in the promoter of the CD14 monocyte receptor gene is not associated with acute myocardial infarction.		158120	9252	2	2003	In this study we were not able to detect differences of frequency of the allele T (-260) in the promoter of the CD14 receptor gene in survivors of myocardial infarction and controls.	Control:213 healthy controls;Case:213 acute myocardial infarct patients										
118814	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Anaphylaxis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Buckova, D.  et al. 2003	14510720			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Czech	Czech Republic	CDC GDPinfo	929	Hs.163867			Allergy. 2003 Oct;58(10):1023-6	Two CD14 promoter polymorphisms and atopic phenotypes in Czech patients with IgE-mediated allergy.		158120	9247	2	2003	 Our study supports the idea that CD14 gene variants may act as disease modifiers of IgE-mediated allergic diseases.	Control:320 random controls;Case:562 IgE-mediated allergic disease subjects										
118815	Y	lipoprotein	METABOLIC	MET		5	5q22-q32	CD14	139991500	139993439		Eilertsen, K. E.  et al. 2003	14517492	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Blood coagulation & fibrinolysis. 2003 Oct;14(7):663-70	Association of the -159 C --> T polymorphism in the CD14 promoter with variations in serum lipoproteins in healthy subjects.		158120	9248	2	2003	In conclusion, the CD14-159 C --> T polymorphism may be an important genetic trait, related to the ability of CD14 to bind and transport lipids, such as cholesterol.	Cohort 117 volunteers 										
118816	Y	kawasaki disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome	5	5q22-q32	CD14	139991500	139993439		Nishimura, S.  et al. 2003	14517520	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of pediatrics. 2003 Sep;143(3):357-62	A polymorphism in the promoter of the CD14 gene (CD14/-159) is associated with the development of coronary artery lesions in patients with Kawasaki disease.		158120	9249	2	2003	 These results indicate that the T allele and TT genotype at CD14/-159 are risk factors for CAL in KD, and that the development of CAL in KD may be related to the magnitude of CD14 toll-like receptor response.	Case:67 patients with Kawasaki disease;Control:69 control children										
118811	N	periodontitis	IMMUNE	IMM	Periodontitis	5	5q22-q32	CD14	139991500	139993439		Yamazaki, K.  et al. 2003	12885845			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese		CDC GDPinfo	929	Hs.163867			Journal of dental research. 2003 Aug;82(8):612-6	Single-nucleotide polymorphism in the CD14 promoter and periodontal disease expression in a Japanese population.		158120	9243	2	2003	These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.	Control:104 age- and gender-matched control subjects without:periodontitis;Case:163 Japanese subjects with periodontitis										
118812	Y	asthma; allergic disease	IMMUNE	IMM	Asthma|Food Hypersensitivity	5	5q22-q32	CD14	139991500	139993439		Woo, J. G.  et al. 2003	12897754	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of allergy and clinical immunology. 2003 Aug;112(2):438-44	The -159 C-->T polymorphism of CD14 is associated with nonatopic asthma and food allergy		158120	9244	2	2003	 The TT genotype of -159 C-->T CD14 is associated with nonatopic asthma and food allergy, particularly in white subjects. Thus CD14 is a candidate gene specifically for nonatopic asthma and not for asthma in general. This indicates that atopic and nonatopic asthma might be distinct conditions in their genetic predisposition, despite the fact that they are very similar once they have been established.	Case atopic and nonatopic asthmatics and fool allergy:patients;Control:controls										
118813	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439		Leung, T. F.  et al. 2003	12911501	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Chinese	Hong Kong	CDC GDPinfo	929	Hs.163867			Pediatric allergy and immunology. 2003 Aug;14(4):255-60	The C-159T polymorphism in the CD14 promoter is associated with serum total IgE concentration in atopic Chinese children.		158120	9245	2	2003	Our results suggest that the C-159T of CD14 was associated with serum total IgE concentration in atopic Chinese children.	Case:258 Chinese patients with atopy;Control:92 control children										
118807	Y	nephropathy	OTHER	OTH	Glomerulonephritis, IGA|Disease Progression	5	5q22-q32	CD14	139991500	139993439		Yoon, H. J.  et al. 2003	12566518	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of medical genetics. 2003 Feb;40(2):104-8	Association of the CD14 gene -159C polymorphism with progression of IgA nephropathy.		158120	9239	2	2003	These results suggest that the CD14/-159 polymorphism is an important marker for the progression of IgAN and may modulate the level of the inflammatory responses.	Control:171 healthy controls;Case:216 patients with IgA nephropathy										
118808	N	atopy	IMMUNE	IMM	Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439		Sengler, C.  et al. 2003	12580907	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Clinical and experimental allergy. 2003 Feb;33(2):166-9	Evaluation of the CD14 C-159 T polymorphism in the German Multicenter Allergy Study cohort		158120	9240	2	2003	 The CD14-159 SNP might not play a major role in the development of atopy in German children.	Cohort 872 children in a large German birth cohort (the German Multicenter Allergy Study cohort) 										
118810	Y	Chlamydia pneumoniae infection	INFECTION	INF	Chlamydophila Infections|Arteriosclerosis	5	5q22-q32	CD14	139991500	139993439		Eng, H. L.  et al. 2003	12825176			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of infectious diseases. 2003 Jul;188(1):90-7	Association of CD14 promoter gene polymorphism and Chlamydia pneumoniae infection.		158120	9242	2	2003	A significant association between the CD14 TT genotype and C. pneumoniae infection was found.	Cohort 315 healthy subjects 										
118804		gram-negative infection	INFECTION	INF	Gram-Negative Bacterial Infections|Disease Susceptibility|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Agnese, D. M.  et al. 2002	12404174				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of infectious diseases. 2002 Nov;186(10):1522-5	Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections.		158120	9236	2	2002	These findings indicate that hTLR4 mutations are associated with an increased incidence of gram-negative infections in critically ill patients in a surgical setting.	Cohort 39 volunteers 										
118805	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Nauck, M.  et al. 2002	12450609	C(-260)T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The American journal of cardiology. 2002 Dec;90(11):1249-52	C(-260)T polymorphism in the promoter of the CD14 gene is not associated with coronary artery disease and myocardial infarction in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study.		158120	9237	2	2002	In this large case-control investigation, we found no evidence for an association of the C(-260)T polymorphism of the CD14 gene and the risk of CAD or MI in either the entire study group or in various subgroups including patients with low cardiovascular risk. These data are therefore in conflict with findings reported in 3 retrospective studies from Europe and Japan.	Case:2559/1365/234 patients with coronary artery disease (n=2559), with myocardial infarction (n=1365), and with recurrent myocardial infarction (n=-234);Control:697:controls	obesity smoking (tobacco)									
118806		arthritis; spondyloarthropathies	IMMUNE	IMM	Arthritis, Reactive|Spondylarthropathies|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Repo, H.  et al. 2002	12492251			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Scandinavian journal of rheumatology. 2002 ;31(6):355-61	CD14 and TNfa promoter polymorphisms in patients with acute arthritis. Special reference to development of chronic spondyloarthropathy.		158120	9238	2	2002	 Possession of CD14 (-159)T allele does not increase risk of ReA but may increase susceptibility of female patients to development of chronic SpA.	Case:141 Caucasians who had had early arthritis 10 to 38 years earlier;Control:370 Caucasian blood donors										
118801	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Obana, N.  et al. 2002	12126249			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Scandinavian journal of gastroenterology. 2002 Jun;37(6):699-704	Ulcerative colitis is associated with a promoter polymorphism of lipopolysaccharide receptor gene, CD14.		158120	9233	2	2002	 The promoter polymorphism of the CD14 gene at -159T plays a significant role in regulating the CD14 expression and is positively associated with ulcerative colitis, and this polymorphism may confer a genetic predisposition to ulcerative colitis. The results also support the concept that bacterial constituents may be involved in the pathogenesis of ulcerative colitis.	Case:101/82 patients with ulcerative colitis (n=101) and with Crohn disease (n=82);Control:123 healthy controls										
118802	N	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Intracranial Arteriosclerosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Lichy, C.  et al. 2002	12140663				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Germany	CDC GDPinfo	929	Hs.163867			Journal of neurology. 2002 Jul;249(7):821-3	Lipopolysaccharide receptor CD14 polymorphism and risk of stroke in a South-German population.		158120	9234	2	2002	 We demonstrated that the TT-genotype of the CD14 C(-260) T polymorphism in a South-German population is not associated with an increased risk of cerebral ischemia in general. However, we found that the TT-genotype is associated with a risk of atherosclerotic or microangiopathic stroke. This finding requires confirmation by future studies in larger populations.	Control:149 control subjects randomly selected from the general population of the same region as patients;Case:151 consecutive patients with acute cerebral ischemia South-West Germany										
118803	N	sepsis	INFECTION	INF	Sepsis|Wounds, Nonpenetrating|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Heesen, M.  et al. 2002	12185442	C(-260)T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Intensive care medicine. 2002 Aug;28(8):1161-3	The -260 C-->T promoter polymorphism of the lipopolysaccharide receptor CD14 and severe sepsis in trauma patients		158120	9235	2	2002	 This pilot study suggests that the CD14 -260 polymorphism is not associated with an increased risk of severe sepsis in trauma patients.	Cohort 58 severely injured blunt trauma patients with an injury severity score of16 or more and without pre-existing chronic diseases 										
118798	N	coronary artery disease; myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Koch, W.  et al. 2002	12075251	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American heart journal. 2002 Jun;143(6):971-6	CD14 gene -159C/T polymorphism is not associated with coronary artery disease and myocardial infarction.		158120	9230	2	2002	 These findings indicate that, in the sample of patients examined in this study, the -159C/T polymorphism of the CD14 gene is not related to CAD or MI.	Control:340/104 Subjects matched with patients for age and gender but without angiographic evidence of CAD and without symptoms or signs of MI (n = 340) and a group of healthy blood donors (n = 104);Case:998/793 Consecutive patients with significant, angiographically documented coronary stenoses but without symptoms or signs of old or acute MI (n = 998) and with angiographic examination with old or acute MI (n = 793)										
118799	N	IL-1beta	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Heesen, M.  et al. 2002	12101079	C(-260)T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European cytokine network. 2002 Apr-Jun;13(2):230-3	The CD14-260 C --> T promoter polymorphism co-segregates with the tumor necrosis factor-alpha (TNF-alpha)-308 G --> A polymorphism and is associated with the interleukin-1 beta (IL-1 beta) synthesis capacity of human leukocytes.		158120	9231	2	2002	No association was found between the CD14 -260 genotypes or the TNF-alpha -308 - CD14 -260 genotypes and the TNF-alpha response.	Cohort healthy human blood donors 								N		
118800	N	coronary artery disease	CARDIOVASCULAR	CARD	Chlamydophila Infections|Helicobacter Infections|Angina Pectoris|Coronary Artery Disease	5	5q22-q32	CD14	139991500	139993439		Koenig, W.  et al. 2002	12103253	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Journal of the American College of Cardiology. 2002 Jul;40(1):34-42	CD14 C(-260)-->T polymorphism, plasma levels of the soluble endotoxin receptor CD14, their association with chronic infections and risk of stable coronary artery disease.		158120	9232	2	2002	 These results do not confirm an independent relationship between CD14 genotypes or plasma levels of sCD14 and risk of stable CAD in this population.	Case:312 patients with angiographically proven CAD and stable angina pectoris;Control:477 age- and gender-matched healthy blood donors	Chlamydia pneumoniae Helicobacter pylori									
118795		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	5	5q22-q32	CD14	139991500	139993439		Zee, R. Y.  et al. 2002	11935032				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		United States	CDC GDPinfo	929	Hs.163867			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):892-5	A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke.		158120	9227	2	2002	 In this large, prospective study, we found little evidence that the two previously described polymorphisms in the CD14 and CD18 genes are associated with risks of future stroke.	Case:338 study participants from the Physicians' Health Study who developed stroke										
118796		dyspepsia	OTHER	OTH	Helicobacter Infections	5	5q22-q32	CD14	139991500	139993439		Karhukorpi, J.  et al. 2002	11985523			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Clinical and experimental immunology. 2002 May;128(2):326-32	Effect of CD14 promoter polymorphism and H. pylori infection and its clinical outcomes on circulating CD14.		158120	9228	2	2002	Thus, we were able to show several factors, one genetic and the other environmental (H. pylori infection and mucosal lesion), to have an impact on sCD14.	Control:127 staff members;Case:201 dyspeptic patients	Helicobacter pylori									
118797		septic shock	IMMUNE	IMM	Shock, Septic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Gibot, S.  et al. 2002	12006789				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Critical care medicine. 2002 May;30(5):969-73	Association between a genomic polymorphism within the CD14 locus and septic shock susceptibility and mortality rate.		158120	9229	2	2002	 The C-159T polymorphism affects susceptibility to septic shock and seems to be a new genetic risk factor for death.	Control:122 age- and gender-matched white subjects;Case:90 consecutive white patients with septic shock										
118792	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Lis, G.  et al. 2001	11732288				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Polish	Poland	CDC GDPinfo	929	Hs.163867			Pneumonol Alergol Pol. 2001 ;69(6-May):265-72	[Molecular studies in a population of children with bronchial asthma. I. Polymorphism in the promotor region of gene CD14]		158120	9224	2	2001	 Our results do not confirm the association of CD14 polymorphism (promoter -159 C to T transition) with asthma in Polish children.	Case:50 asthmatic children;Control:73 children without 1)signs of wheezing in the last year, 2) serum IgE level > 150 kIU/l, 3) positive bronchial challenge test with aerolized hypertonic:saline										
118793	N	psoriasis vulgaris	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Karhukorpi, J.  et al. 2002	11841490	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Finland	CDC GDPinfo	929	Hs.163867			European journal of immunogenetics. 2002 Feb;29(1):57-60	Promoter region polymorphism of the CD14 gene (C-159T) is not associated with psoriasis vulgaris.		158120	9225	2	2002	Thus, our results suggest that the enhanced CD14 expression in psoriasis is not attributable to functional variants of CD14 (-159C/T).	Control:126 non-psoriatic controls;Case:63 patients with psoriasis:Finland										
118794	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Klein, W.  et al. 2002	11843056				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Scandinavian journal of gastroenterology. 2002 Feb;37(2):189-91	A polymorphism in the CD14 gene is associated with Crohn disease.		158120	9226	2	2002	 An altered immune response to LPS seems to play a role in the genetic predisposition to CD but not to UC.	Case:361 patients with inflamatory bowel disease ( 219 patients with Crohn disease (CD), 142 patients with ulcerative colitis (UC));Control:410 healthy controls										
118789	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Zee, R. Y.  et al. 2001	11257272	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Atherosclerosis. 2001 Feb;154(3):699-702	A prospective evaluation of the CD14 C(-260)T gene polymorphism and the risk of myocardial infarction.		158120	9221	2	2001	In this large prospective study, the CD14 C(-260)T gene polymorphism was not associated with risks of future MI.	Case:387 physicians' health study participants who developed MI over a 12-year period;Control:387 age- and smoking-matched study participants who remained free of vascular diseases during follow-up	smoking (tobacco)									
118790	Y	asthma; atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q22-q32	CD14	139991500	139993439		Koppelman, G. H.  et al. 2001	11282774			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			American journal of respiratory and critical care medicine. 2001 Mar;163(4):965-9	Association of a promoter polymorphism of the CD14 gene and atopy.		158120	9222	2	2001	We conclude that  the -159 C-to-T promoter polymorphism in the CD14 gene may result in expression of a more severe allergic phenotype.	Control:158:spouses The Netherlands;Case:159 probands with asthma The Netherlands										
118791		alcoholic liver disease	CHEMDEPENDENCY	CHEM	Liver Diseases, Alcoholic|Cadaver|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Jarvelainen, H. A.  et al. 2001	11343243			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Finnish		CDC GDPinfo	929	Hs.163867			Hepatology (Baltimore, Md). 2001 May;33(5):1148-53	Promoter polymorphism of the CD14 endotoxin receptor gene as a risk factor for alcoholic liver disease.		158120	9223	2	2001	These results suggest that in the relatively isolated Finnish population, the T allele confers increased risk of alcoholic liver damage. In particular, TT homozygotes are at a high risk to develop cirrhosis.	Cohort 381 autopsy series of alcoholic liver disease in moderate or heavy alcohol consumers Finland 	alcohol									
118786	N	periodontal disease	IMMUNE	IMM	Periodontitis	5	5q22-q32	CD14	139991500	139993439		Yamazaki K 2003	12885845			5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese		KGB	929	Hs.163867			Journal of dental research. 2003 Aug;82(8):612-6	Single-nucleotide polymorphism in the CD14 promoter and periodontal disease expression in a Japanese population.		158120	1150	1	2003	These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.	Control:104 age- and gender-matched control subjects without:periodontitis;Case:163 Japanese subjects with periodontitis										
118787		Atopy	IMMUNE	IMM	Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		O'Donnell AR 2004	14617510				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		New South Wales	KGB	929	Hs.163867			American journal of respiratory and critical care medicine. 2004 Mar;169(5):615-22	Age-specific relationship between CD14 and atopy in a cohort assessed from age 8 to 25 years.		158120	1151	1	2004	These data suggest that the influence of CD14 -159C on the atopic phenotype may be age specific, exerting an effect during midchildhood, which is no longer apparent by early adulthood.	Cohort 305 children of the same age followed longitudinally over many years										
118788	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	5	5q22-q32	CD14	139991500	139993439		Ito, D.  et al. 2000	11062291			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Japan	CDC GDPinfo	929	Hs.163867			Stroke; a journal of cerebral circulation. 2000 Nov;31(11):2661-4	Polymorphism in the promoter of lipopolysaccharide receptor CD14 and ischemic cerebrovascular disease.		158120	9220	2	2000	 Our results indicate that the C(-260)-->T polymorphism in the CD14 promoter is not associated with an increased risk for CVD.	Case:235 patients with CVD;Control:309 age- and sex-matched control subjects										
118782	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Klein W 2003	12940436				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Scandinavian journal of gastroenterology. 2003 Aug;38(8):834-6	Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.		158120	1146	1	2003	 Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.	Control:controls;Case:253 patients with Crohn's disease										
118783	Y	nonatopic asthma and food allergy	IMMUNE	IMM	Asthma|Food Hypersensitivity	5	5q22-q32	CD14	139991500	139993439		Woo JG 2003	12897754				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			The Journal of allergy and clinical immunology. 2003 Aug;112(2):438-44	The -159 C-->T polymorphism of CD14 is associated with nonatopic asthma and food allergy.		158120	1147	1	2003	 The TT genotype of -159 C-->T CD14 is associated with nonatopic asthma and food allergy, particularly in white subjects. Thus CD14 is a candidate gene specifically for nonatopic asthma and not for asthma in general. This indicates that atopic and nonatopic asthma might be distinct conditions in their genetic predisposition, despite the fact that they are very similar once they have been established.	Case atopic and nonatopic asthmatics and fool allergy:patients;Control:controls										
118785	Y	acute myocardial infarction	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Kondo T 2003	12860878			5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867	insignificant coronary artery stenosis		Heart (British Cardiac Society). 2003 Aug;89(8):931-2	CD14 promoter polymorphism is associated with acute myocardial infarction resulting from insignificant coronary artery stenosis.		158120	1149	1	2003												
118779	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Hirashiki A 2003	14563588	260C3T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese	Japan	KGB	929	Hs.163867			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		158120	1143	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
118780	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Hohda S 2003	14587643				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese		KGB	929	Hs.163867			Japanese heart journal. 2003 Sep;44(5):613-22	Association study of CD14 polymorphism with myocardial infarction in a Japanese population.		158120	1144	1	2003	The frequencies of the T/T homozygotes were significantly higher in the patients (OR = 1.41, P = 0.013) than in the control group, confirming the association of CD14 polymorphism with MI in Japanese. Stratification analyses further demonstrated that the association was more prominent in females and in patients with a relatively low body mass index, suggesting that the contribution of the CD14-linked genetic risk to MI differs with respect to gender and habitual background.	Case:502 patients with myocardial infarction;Control:527:controls										
118781	Y	development of coronary artery lesions	CARDIOVASCULAR	CARD	Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome	5	5q22-q32	CD14	139991500	139993439		Nishimura S 2003	14517520			5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			The Journal of pediatrics. 2003 Sep;143(3):357-62	A polymorphism in the promoter of the CD14 gene (CD14/-159) is associated with the development of coronary artery lesions in patients with Kawasaki disease.		158120	1145	1	2003	 These results indicate that the T allele and TT genotype at CD14/-159 are risk factors for CAL in KD, and that the development of CAL in KD may be related to the magnitude of CD14 toll-like receptor response.	Case:67 patients with Kawasaki disease;Control:69 control children										
118775	Y	expired myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Arteriosclerosis	5	5q22-q32	CD14	139991500	139993439	P<0.01	Unkelbach K 1999	10195920	C-->T (-159) polymorphism in the promoter region of the CD14	In particular. TT homozygotes are at a high risk to develop cirrhosis.	5`promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Germany	KGB	929	Hs.163867			Arteriosclerosis, thrombosis, and vascular biology. 1999 Apr;19(4):932-8			158120	1139	1	1999												
118776	N	cerebrovascular disease.	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	5	5q22-q32	CD14	139991500	139993439	n	Ito D 2000	11062291	C(-260)-->T polymorphism	The T allele of this polymorphism reportedly increases the expression of CD14 and may be involved in atherogenesis.		CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Japan	KGB	929	Hs.163867			Stroke; a journal of cerebral circulation. 2000 Nov;31(11):2661-4	Polymorphism in the promoter of lipopolysaccharide receptor CD14 and ischemic cerebrovascular disease.		158120	1140	1	2000	 Our results indicate that the C(-260)-->T polymorphism in the CD14 promoter is not associated with an increased risk for CVD.	Case:235 patients with CVD;Control:309 age- and sex-matched control subjects										
118777	Y	SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	P=0.00091	Ober C 2000	11022011	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		South Dakota	KGB	929	Hs.163867			American journal of human genetics. 2000 Nov;67(5):1154-62			158120	1141	1	2000												
118778	Y	Total IgE	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439	P = 0.01	Baldini M 1999	10226067	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			American journal of respiratory cell and molecular biology. 1999 May;20(5):976-83			158120	1142	1	1999	We conclude that  CD14/-159 plays a significant role in regulating serum sCD14 levels and total serum IgE levels.											
118772	N	soluble CD14 plasma levels	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439	n	Heesen M et al. 2001	11810121			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Intensive care medicine. 2001 Nov;27(11):1770-5	Lack of association between the -260 C-->T promoter polymorphism of the endotoxin receptor CD14 gene and the CD14 density of unstimulated human monocytes and soluble CD14 plasma levels.		158120	1136	1	2001	 The CD14 -260 polymorphism does not affect the CD14 expression of unstimulated circulating monocytes or soluble CD14 plasma levels.											
118773	Y	SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	P=0.00091	Ober C 2000	11022011	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Hutterites	South Dakota	KGB	929	Hs.163867			American journal of human genetics. 2000 Nov;67(5):1154-62			158120	1137	1	2000												
118774	N	psoriasis vulgaris	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Klein W 2002	11841490	CD14 (-159C/T)		5`promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Finland	KGB	929	Hs.163867			European journal of immunogenetics. 2002 Feb;29(1):57-60	Promoter region polymorphism of the CD14 gene (C-159T) is not associated with psoriasis vulgaris.		158120	1138	1	2002	Thus, our results suggest that the enhanced CD14 expression in psoriasis is not attributable to functional variants of CD14 (-159C/T).	Control:126 non-psoriatic controls;Case:63 patients with psoriasis:Finland										
118768	N	coronary artery disease and myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439	n	Nauck M et al. 2002	12450609			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			The American journal of cardiology. 2002 Dec;90(11):1249-52	C(-260)T polymorphism in the promoter of the CD14 gene is not associated with coronary artery disease and myocardial infarction in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study.		158120	1132	1	2002	In this large case-control investigation, we found no evidence for an association of the C(-260)T polymorphism of the CD14 gene and the risk of CAD or MI in either the entire study group or in various subgroups including patients with low cardiovascular risk. These data are therefore in conflict with findings reported in 3 retrospective studies from Europe and Japan.	Case:2559/1365/234 patients with coronary artery disease (n=2559), with myocardial infarction (n=1365), and with recurrent myocardial infarction (n=-234);Control:697:controls	obesity smoking (tobacco)									
118769	Y	stroke	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Disease Progression|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Risley P et al. 2003	12624278			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Germany	KGB	929	Hs.163867			Stroke; a journal of cerebral circulation. 2003 Mar;34(3):600-4	Promoter polymorphism in the endotoxin receptor (CD14) is associated with increased carotid atherosclerosis only in smokers: the Carotid Atherosclerosis Progression Study (CAPS).		158120	1133	1	2003	 The CD14 -159 polymorphism is associated with increased CCA IMT in smokers from a general population. CD14 may modulate the inflammatory effects of smoking in atherogenesis.	Cohort 992 individuals from a community population	alcohol smoking (tobacco)									
118770		acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Shimada K et al. 2000	10980225			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Japanese	Japan	KGB	929	Hs.163867			The American journal of cardiology. 2000 Sep;86(6):682-4, A8	Common polymorphism in the promoter of the CD14 monocyte receptor gene is associated with acute myocardial infarction in Japanese men.		158120	1134	1	2000												
118764	N	atopy	IMMUNE	IMM	Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439	n	Sengler C 2003	12580907				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	German		KEW	929	Hs.163867			Clinical and experimental allergy. 2003 Feb;33(2):166-9	Evaluation of the CD14 C-159 T polymorphism in the German Multicenter Allergy Study cohort		158120	1128	1	2003	 The CD14-159 SNP might not play a major role in the development of atopy in German children.	Cohort 872 children in a large German birth cohort (the German Multicenter Allergy Study cohort)										
118765		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	5	5q22-q32	CD14	139991500	139993439		Holla LI et al. 2002	12414826			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Journal of medical genetics. 2002 Nov;39(11):844-8	Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis.		158120	1129	1	2002												
118766	N	gram-negative infections	INFECTION	INF	Gram-Negative Bacterial Infections|Disease Susceptibility|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Agnese DM et al. 2002	12404174				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			The Journal of infectious diseases. 2002 Nov;186(10):1522-5	Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections.		158120	1130	1	2002	These findings indicate that hTLR4 mutations are associated with an increased incidence of gram-negative infections in critically ill patients in a surgical setting.	Cohort 39 volunteers										
118760	N	Severe sepsis in trauma	INFECTION	INF	Sepsis|Wounds, Nonpenetrating|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	NS	Heesen M 2002	12185442	CD14(C-260T)			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	58 blunt trauma pts		KGB	929	Hs.163867			Intensive care medicine. 2002 Aug;28(8):1161-3	The -260 C-->T promoter polymorphism of the lipopolysaccharide receptor CD14 and severe sepsis in trauma patients		158120	1124	1	2002	 This pilot study suggests that the CD14 -260 polymorphism is not associated with an increased risk of severe sepsis in trauma patients.	Cohort 58 severely injured blunt trauma patients with an injury severity score of16 or more and without pre-existing chronic diseases										
118762	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Zee RY 2001	11257272	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			TJB	929	Hs.163867			Atherosclerosis. 2001 Feb;154(3):699-702	A prospective evaluation of the CD14 C(-260)T gene polymorphism and the risk of myocardial infarction.		158120	1126	1	2001	In this large prospective study, the CD14 C(-260)T gene polymorphism was not associated with risks of future MI.	Case:387 physicians' health study participants who developed MI over a 12-year period;Control:387 age- and smoking-matched study participants who remained free of vascular diseases during follow-up	smoking (tobacco)									
118763	Y	glomerulonephritis	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	5	5q22-q32	CD14	139991500	139993439	0.0003	Yoon HJ 2003	12566518				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KEW	929	Hs.163867			Journal of medical genetics. 2003 Feb;40(2):104-8	Association of the CD14 gene -159C polymorphism with progression of IgA nephropathy.		158120	1127	1	2003	These results suggest that the CD14/-159 polymorphism is an important marker for the progression of IgAN and may modulate the level of the inflammatory responses.	Control:171 healthy controls;Case:216 patients with IgA nephropathy										
118756	Y	Septic Shock	IMMUNE	IMM	Shock, Septic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	?????????	Gibot S 2002	12006789	C to T transition at base pair -159			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian		TJB	929	Hs.163867			Critical care medicine. 2002 May;30(5):969-73	Association between a genomic polymorphism within the CD14 locus and septic shock susceptibility and mortality rate.		158120	1120	1	2002	 The C-159T polymorphism affects susceptibility to septic shock and seems to be a new genetic risk factor for death.	Control:122 age- and gender-matched white subjects;Case:90 consecutive white patients with septic shock										
118757	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	p=0.005	Klein W 2002	11843056	(T/C at position -159)	T allele and TT genotype frequencies were found increased in CD patients compared to controls		CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Scandinavian journal of gastroenterology. 2002 Feb;37(2):189-91	A polymorphism in the CD14 gene is associated with Crohn disease.		158120	1121	1	2002	 An altered immune response to LPS seems to play a role in the genetic predisposition to CD but not to UC.	Case:361 patients with inflamatory bowel disease ( 219 patients with Crohn disease (CD), 142 patients with ulcerative colitis (UC));Control:410 healthy controls										
118758	N	Sepsis Development or Mortality	IMMUNE	IMM	Sepsis	5	5q22-q32	CD14	139991500	139993439	n	Hubacek JA 2000	11196689	C(-159)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			TJB	929	Hs.163867			Genes and immunity. 2000 Aug;1(6):405-7			158120	1122	1	2000		Case:204; Control:247										
118753	Y	IgE. SPT	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q22-q32	CD14	139991500	139993439	P<0.05	Koppelman GH 2001	11282774	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Dutch		KGB	929	Hs.163867			American journal of respiratory and critical care medicine. 2001 Mar;163(4):965-9	Association of a promoter polymorphism of the CD14 gene and atopy.		158120	1117	1	2001	We conclude that  the -159 C-to-T promoter polymorphism in the CD14 gene may result in expression of a more severe allergic phenotype.	Control:158:spouses The Netherlands;Case:159 probands with asthma The Netherlands										
118754	Y	Atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q22-q32	CD14	139991500	139993439	P<0.05	Koppelman GH 2001	11282774	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			American journal of respiratory and critical care medicine. 2001 Mar;163(4):965-9	Association of a promoter polymorphism of the CD14 gene and atopy.		158120	1118	1	2001	We conclude that  the -159 C-to-T promoter polymorphism in the CD14 gene may result in expression of a more severe allergic phenotype.	Control:158:spouses The Netherlands;Case:159 probands with asthma The Netherlands										
118755	Y	IgE levels	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439	P = 0.004).	Baldini M 1999	10226067	C-->T (-159) polymorphism in the promoter region of the CD14		5`promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			American journal of respiratory cell and molecular biology. 1999 May;20(5):976-83			158120	1119	1	1999	We conclude that  CD14/-159 plays a significant role in regulating serum sCD14 levels and total serum IgE levels.											
118749	Y	alcoholic liver disease	CHEMDEPENDENCY	CHEM	Liver Diseases, Alcoholic|Cadaver|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	P = 0.005	Jarvelainen HA 2001	11343243	C-->T (-159) polymorphism in the promoter region of the CD14	In particular. TT homozygotes are at a high risk to develop cirrhosis.	5`promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Hepatology (Baltimore, Md). 2001 May;33(5):1148-53	Promoter polymorphism of the CD14 endotoxin receptor gene as a risk factor for alcoholic liver disease.		158120	1113	1	2001	These results suggest that in the relatively isolated Finnish population, the T allele confers increased risk of alcoholic liver damage. In particular, TT homozygotes are at a high risk to develop cirrhosis.	Cohort 381 autopsy series of alcoholic liver disease in moderate or heavy alcohol consumers Finland	alcohol									
118750	Y	Inflammatory Bowel Disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	P=0.0205	Obana N 2002	12126249	T allele at position -159			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Scandinavian journal of gastroenterology. 2002 Jun;37(6):699-704	Ulcerative colitis is associated with a promoter polymorphism of lipopolysaccharide receptor gene, CD14.		158120	1114	1	2002	 The promoter polymorphism of the CD14 gene at -159T plays a significant role in regulating the CD14 expression and is positively associated with ulcerative colitis, and this polymorphism may confer a genetic predisposition to ulcerative colitis. The results also support the concept that bacterial constituents may be involved in the pathogenesis of ulcerative colitis.	Case:101/82 patients with ulcerative colitis (n=101) and with Crohn disease (n=82);Control:123 healthy controls										
118751	Y	Total IgE	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439	P = 0.01	Baldini M 1999	10226067	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			American journal of respiratory cell and molecular biology. 1999 May;20(5):976-83			158120	1115	1	1999	We conclude that  CD14/-159 plays a significant role in regulating serum sCD14 levels and total serum IgE levels.											
118746	N	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	5	5q22-q32	CD14	139991500	139993439	n	Zee RY 2002	11935032	C(-260)T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		United States	TJB	929	Hs.163867			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):892-5	A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke.		158120	1110	1	2002	 In this large, prospective study, we found little evidence that the two previously described polymorphisms in the CD14 and CD18 genes are associated with risks of future stroke.	Case:338 study participants from the Physicians' Health Study who developed stroke										
118747	N	Coronary Atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	5	5q22-q32	CD14	139991500	139993439	n	Elghannam H 2000	11199329	``-260C/T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			TJB	929	Hs.163867			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		158120	1111	1	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study	fluvastatin									
118748	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Lis G 2001	11732288	``-159 C to T transition			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Polish	Poland	TJB	929	Hs.163867			Pneumonol Alergol Pol. 2001 ;69(6-May):265-72	[Molecular studies in a population of children with bronchial asthma. I. Polymorphism in the promotor region of gene CD14]		158120	1112	1	2001	 Our results do not confirm the association of CD14 polymorphism (promoter -159 C to T transition) with asthma in Polish children.	Case:50 asthmatic children;Control:73 children without 1)signs of wheezing in the last year, 2) serum IgE level > 150 kIU/l, 3) positive bronchial challenge test with aerolized hypertonic:saline										
118742		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	3	3p21	CCR5	46387429	46392701		Zee, R. Y.  et al. 2002	12082592				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		601373	28332	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
118743		liver transplant	OTHER	OTH		6	6q13	CD109	74462234	74594761		Cardone, J. D.  et al. 2004	15569238				CD109 antigen (Gov platelet alloantigens)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133493.1	Brazilian		CDC GDPinfo	135228	Hs.399891			Transfusion medicine (Oxford, England). 2004 Dec;14(6):433-7	Gene frequencies of the HPA-15 (Gov) platelet alloantigen system in Brazilians		608859	15672	2	2004	The present data showed that the distribution of the HPA-15 (Gov) system alleles observed among the Brazilian population is quite similar to the distributions already reported among Asian, Canadian and European populations. Moreover, the data indicated differences in the frequency of the HPA-15 system between Amazon Indians and other distinct Brazilian ethnic groups suggesting that Amerindians would be at higher risk of HPA-15 alloimmunization in the need of receiving blood components collected from blood donors of other ethnic groups.	Cohort 276 subjects of distinct Brazilian ethnic groups including, 15 Caucasians, 15 African Brazilians, 15 Orientals, 106 Amazon Xikrin Indians, 31 Amazon Gavioes Indians and 94 blood donors 										
118745	Y	Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439	P=0.018	Gao PS 1999	10517256	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Japan|Great Britain	KGB	929	Hs.163867			Clinical genetics. 1999 Aug;56(2):164-5			158120	1109	1	1999												
118739		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701			16323127				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		601373	25873	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
118740	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	3	3p21	CCR5	46387429	46392701		Hellier, S.  et al. 2003	14647058				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		601373	27380	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
118741		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	3	3p21	CCR5	46387429	46392701		Navarro-Lopez, F.   2002	11975906			unknown	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		601373	28136	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
118736	N	hepatitis C	INFECTION	INF	Hepatitis C|Fibrosis	3	3p21	CCR5	46387429	46392701		Mascheretti, S.  et al. 2004	15086398				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Clinical and experimental immunology. 2004 May;136(2):328-33	Genetic variants in the CCR gene cluster and spontaneous viral elimination in hepatitis C-infected patients.		601373	24126	2	2004	The G190A polymorphism (variant allele Ile64) in the first transmembrane domain of CCR2 was under-represented in the 29 patients who had cleared the hepatitis C virus spontaneously (P = 0.018). None of the other variants in the CCR gene cluster showed association with the natural course of the infection, stage of fibrosis or response to therapy.	Control:370 matched controls;Case:465 consecutively recruited patients infected with HCV										
118737	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Szalai, C.  et al. 2001	11500196				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Atherosclerosis. 2001 Sep;158(1):233-9	Involvement of polymorphisms in the chemokine system in the susceptibility for coronary artery disease (CAD). Coincidence of elevated Lp(a) and MCP-1 -2518 G/G genotype in CAD patients.		601373	25871	2	2001	The MCP-1 -2518G variant in homozygous form appears as a genetic risk factor for severe CAD. This genotype is associated with elevated Lp(a) levels in patients. Individuals homozygous for CCR2-64I or CCR5Delta32 mutations are at reduced risk for severe CAD.	Case:318 patients with coronary artery disease (CAD) referred to coronary bypass surgery;Control:320 healthy controls										
118738	N	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Huerta, C.  et al. 2004	15488313				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Neuroscience letters. 2004 Nov;370(3-Feb):151-4	Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.		601373	25872	2	2004	We conclude that  the four DNA polymorphisms, which have been associated with several immuno-modulated diseases, did not contribute to the risk of PD or LOAD.	Case:200/326 patients with Parkinson's disease (n=200) and late-onset Alzheimer's disease (n=326);Control:370 healthy controls										
118733		heart transplant complications	OTHER	OTH	Acute Disease	3	3p21	CCR5	46387429	46392701			16314800				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Transplantation. 2005 Nov;80(9):1309-15	CCR5, RANTES and CX3CR1 Polymorphisms: PossibleGenetic Links with Acute Heart Rejection		601373	24123	2	2005	 This exploratory study in heart transplantation suggests that the outcomes of EAR and LAR episodes may be influenced by genetic variant interactions such as CX3CR1 249I*CCR5 No-E and CCR5 E*RANTES -403A.											
118734		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	3	3p21	CCR5	46387429	46392701		Promrat, K.  et al. 2003	12557141				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Gastroenterology. 2003 Feb;124(2):352-60	Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C		601373	24124	2	2003	 In this cohort, the frequency of CCR5Delta32 homozygosity in patients with hepatitis C was similar to controls. The high prevalence of CCR5Delta32 homozygosity in the hepatitis C virus patients of the earlier study likely reflects resistance to human immunodeficiency virus infection in hemophiliacs rather than a susceptibility to hepatitis C virus infection. Expression of CCR5 and RANTES may be important in the modulation of hepatic inflammation and response to interferon therapy in chronic hepatitis C.	Control:2380 blood donors;Case:417 patients with liver diseases (339 with hepatitis C)										
118735	N	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	3	3p21	CCR5	46387429	46392701		Liu, H.  et al. 2004	15319853				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2004 Sep;190(6):1055-8	Analysis of genetic polymorphisms in CCR5, CCR2, stromal cell-derived factor-1, RANTES, and dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin in seronegative individuals repeatedly exposed to HIV-1.		601373	24125	2	2004	The frequency of homozygous C-C chemokine receptor (CCR) 5- Delta 32 was higher in ES than in HIV-1-seropositive individuals. However, the CCR5-59029A, CCR2-64I, stromal cell-derived factor (SDF)-1-3'A, RANTES (regulated on activation, normally T cell-expressed and -secreted)-403A, and RANTES-28G polymorphisms were not associated with resistance to HIV-1 infection. Furthermore, we identified novel variants in the DC-SIGN (dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin) repeat region and observed that heterozygous DC-SIGN reduced the risk of HIV-1 infection.	Case:316 HIV-1-seropositive individuals;Control:425 HIV-1-seronegative individuals;Case:94 repeatedly exposed seronegative (ES) individuals										
118730	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	3	3p21	CCR5	46387429	46392701		Konishi, I.  et al. 2004	15192276				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Japanese	Japan	CDC GDPinfo	1234	Hs.450802			Intervirology. 2004 ;47(2):114-20	CCR5 promoter polymorphism influences the interferon response of patients with chronic hepatitis C in Japan.		601373	24120	2	2004	 These findings indicate that CCR5 59029 is a host genetic factor that is associated with responses to IFN therapy among Japanese patients with chronic hepatitis C.	Cohort 105 patients with chronic hepatitis C Japan 										
118731		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Substance-Related Disorders|Substance Abuse, Intravenous|Disease Progression	3	3p21	CCR5	46387429	46392701		Duggal, P.  et al. 2005	15793370				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	African American	United States	CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2005 Apr;38(5):584-9	The effect of RANTES chemokine genetic variants on early HIV-1 plasma RNA among African American injection drug users.		601373	24121	2	2005	Genetic variants in RANTES may downregulate RANTES gene expression and increase early HIV-1 plasma RNA. Because RANTES is a critical chemokine and competitively inhibits HIV-1 by binding to its receptor CCR5, treatment to enhance RANTES expression may assist in delaying the progression of AIDS by decreasing the initial viral load.	Cohort 198 seroincident injection drug users followed in the AIDS Link to Intravenous Experience cohort 										
118732	Y	hepatitis C	INFECTION	INF	Hepatitis C	3	3p21	CCR5	46387429	46392701		Goulding, C.  et al. 2005	15863470				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Gut. 2005 Aug;54(8):1157-61	The CCR5-delta32 mutation: impact on diseaseoutcome in individuals with hepatitis C infection from a single source.		601373	24122	2	2005	 Heterozygosity for CCR5delta32 was shown to be significantly associated with spontaneous hepatitis C viral clearance and with significantly lower hepatic inflammatory scores in subgroups within this cohort. Both controls and the HCV population had similar heterozygosity frequencies.	Cohort 283 women, all exposed to HCV genotype 1b from a single donor, and including those who had spontaneously cleared the virus and those chronically infected 										
118727		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Simeoni, E.  et al. 2004	15302103				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			European heart journal. 2004 Aug;25(16):1438-46	Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis.		601373	24117	2	2004	 RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers. The association was enhanced in smokers and ACS, conditions where platelet activation and inflammation predominate. RANTES A-403 may increase genetic susceptibility to CAD.	Case coronary artery disease patients from the LUdwigshafen Risk and Cardiovascular health (LURIC):cohort;Control controls from the LUdwigshafen Risk and Cardiovascular health (LURIC) cohort										
118728		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3p21	CCR5	46387429	46392701		Galimberti, D.  et al. 2004	15465089				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of the neurological sciences. 2004 Oct;225(2-Jan):79-83	CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease.		601373	24118	2	2004	However, these findings must be cautiously interpreted as the overall significance was found without adjustment for multiple comparisons and is coming from the complete absence of the genotype 64I/64I in AD patients. Conversely, no different distribution of the CCR5Delta32 deletion in the two populations was shown. Stratifying by the presence of ApoE varepsilon4 allele, gender or age at onset, no differences in either allele frequencies were observed.	Control:222:controls;Case:290 Alzheimer's disease patients										
118729	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR5	46387429	46392701		Yang, B.  et al. 2004	15135805				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Cytokine. 2004 May;26(3):114-21	Polymorphisms of chemokine and chemokine receptor genes in Type 1 diabetes mellitus and its complications.		601373	24119	2	2004	These results suggest that polymorphisms of the MCP-1, CCR2 and CCR5 genes may be associated with T1DM and its complications.	Control:104 normal controls;Case:260 patients with type 1 diabetes with and without diabetic microvascular complications										
118724		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	3	3p21	CCR5	46387429	46392701		Hoffmann, S.  et al. 2004	15458467				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		601373	20744	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
118725		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Silverberg, M. J.  et al. 2004	14742283				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		United States	CDC GDPinfo	1234	Hs.450802			American journal of epidemiology. 2004 Feb;159(3):232-41	Fraction of cases of acquired immunodeficiency syndrome prevented by the interactions of identified restriction gene variants.		601373	20745	2	2004	Overall, 30% of potential AIDS cases were prevented by the observed combinations of restriction genes	Cohort 525 US men with HIV-1 seroconversion 1984-1996 										
118726		liver transplant	OTHER	OTH		3	3p21	CCR5	46387429	46392701		Schroppel, B.  et al. 2002	12462338				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of clinical immunology. 2002 Nov;22(6):381-5	Analysis of gene polymorphisms in the regulatory region of MCP-1, RANTES, and CCR5 in liver transplant recipients.		601373	24116	2	2002	In conclusion, variants of RANTES-28, MCP-1 -2518, and CCR5-59029 neither influenced the incidence of acute rejection nor affected long-term allograft survival upon liver transplantation in the context of this analysis.	Cohort 209 liver transplant recipients 										
118721		HIV	INFECTION	INF	Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		De Pinho Lott Carvalhaes, F. A.  et al. 2004	15754978				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Indian	Brazil|Japan	CDC GDPinfo	1234	Hs.450802			Human biology; an international record of research. 2004 Aug;76(4):643-6	Distribution of CCR5-delta32, CCR2-64I, and SDF1-3'A mutations in populations from the Brazilian Amazon region.		601373	20741	2	2004	The results suggest that Amerindians may be genetically more susceptible to HIV-1 infection and disease progression than the other human groups studied.	Cohort individuals of the urban population of Belem and in Afro-Brazilians, Amerindians, and Japanese immigrants Para, Brazil 										
118722		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR5	46387429	46392701		Apostolakis, S.  et al. 2005	16286055				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Greece	CDC GDPinfo	1234	Hs.450802			Journal of clinical virology. 2005 Dec;34(4):310-4	Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population.		601373	20742	2	2005												
118723		asthma; HIV disease progression	IMMUNE	IMM	HIV Infections	3	3p21	CCR5	46387429	46392701		Su, B.  et al. 2000	11175286				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			European journal of human genetics. 2000 Dec;8(12):975-9	Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations.		601373	20743	2	2000	From these data, we estimated the risk of AIDS onset (relative hazard, RH) of each population. This survey shows that the substantial allele frequency differences of each of these mutations translate into an extensive variation in relative hazards for AIDS in worldwide populations. However, no evidence of natural selection against the mutant gene carriers is detected.	Cohort 2341 individuals without any known history of HIV-1 infection and AIDS symptoms from 70 worldwide populations 										
118718	Y	HIV disease progression	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Lathey, J. L.  et al. 2001	11709782				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2001 Dec;184(11):1402-11	Associations of CCR5, CCR2, and stromal cell-derived factor 1 genotypes with human immunodeficiency virus disease progression in patients receiving nucleoside therapy.		601373	20738	2	2001	The SDF-1 homozygous 3'A variant was related to more-rapid disease progression, and CCR5 Delta32 was associated with reduced rates of hazard for disease progression in nucleoside-treated subjects.	Cohort 354 human immunodeficiency virus type 1 positive subjects who were being treated with nucleosides 										
118719	Y	HIV	INFECTION	INF	HIV Infections|AIDS Dementia Complex|Disease Progression	3	3p21	CCR5	46387429	46392701		Singh, K. K.  et al. 2003	14624371				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2003 Nov;188(10):1461-72	Genetic influence of CCR5, CCR2, and SDF1 variants on human immunodeficiency virus 1 (HIV-1)-related disease progression and neurological impairment, in children with symptomatic HIV-1 infection.		601373	20739	2	2003	Thus, in children with the CCR5-wt/wt genotype, variants at CCR5-59029 have the broadest impact on disease progression. These data suggest that, in children, host genetics plays an important role in HIV-1-related disease progression and neurological impairment.	Cohort 1,049 children with symptomatic HIV-1 infection who participated in 2 clinical trials US 										
118720	Y	HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Bogner, J.  et al. 2004	15236615				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			HIV medicine. 2004 Jul;5(4):264-72	Association of highly active antiretroviral therapy failure with chemokine receptor 5 wild type.		601373	20740	2	2004	 Chemokine receptor polymorphisms have a modifying effect on the virological response to HAART. Multivariate analysis demonstrated that heterozygosity for the CCR5-Delta32-bp variant is an independent prognostic factor for treatment outcome.	Control:221 healthy controls;Case:256 HIV-infected patients receiving highly active antiretroviral therapy	antiretroviral									
118715		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR		3	3p21	CCR5	46387429	46392701		Ye, J. J.  et al. 2003	15639953				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese		CDC GDPinfo	1234	Hs.450802			Yi chuan. 2003 Nov;25(6):655-9	[Distribution of the HIV/AIDS Associated CCR5Delta32,CCR2b-64I,SDF1-3'A Allelesin Chinese Dai and Chingpaw Populations from Dehong Autonomous Prefecture of Yunnan Province.]		601373	20735	2	2003	The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3'A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3'A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.	Cohort 101/113 Dai (n=101) and Chingpaw (n=113) individuals Yunnan Province, China 										
118716		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity	3	3p21	CCR5	46387429	46392701		Geskus, R. B.  et al. 2005	15980693				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2005 Jul;39(3):321-6	Causal pathways of the effects of age and the CCR5-Delta32, CCR2-64I, and SDF-1 3'A alleles on AIDS development.		601373	20736	2	2005	 Age and the CCR5-Delta32 deletion and CCR2-64I mutation influence AIDS progression by affecting CD4 and HIV-1 RNA. The SDF-1 3'A allele increases the AIDS risk, but this effect is countered by its effect on CD4 and HIV-1 RNA level.											
118717		HIV	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Wang, X. H.  et al. 2005	16261210				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese		CDC GDPinfo	1234	Hs.450802			Zhonghua shi yan he lin chuang bing du xue za zhi. 2005 Sep;19(3):256-9	[Effect of CCR5delta32, CCR5m303, CCR2-64I and SDF1-3'A gene polymorphism on the prognosis of Chinese HIV-1 carriers]		601373	20737	2	2005	 CCR2-64I gene mutation may not significantly affect virus load of Chinese HIV-1 carriers, nor it affect the incubation period of HIV-1 carriers. SDF1-3'A gene mutation can decrease virus load, but it may not prolong the incubation period of HIV-1 carriers.											
118712		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Singh, K. K.  et al. 2004	15076247				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		United States	CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2004 Mar;35(3):309-13	Prevalence of Chemokine and Chemokine Receptor Polymorphisms in Seroprevalent Children With Symptomatic HIV-1 Infection in the United States		601373	20732	2	2004	These analyses show that the distribution of chemokine receptor and chemokine genetic polymorphisms varies significantly across race/ethnicity subgroups of HIV-1-infected children in the United States.	Cohort 1,057 children with symptomatic HIV-1 infection US 										
118713		HIV	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Ryabov, G. S.  et al. 2004	15140377				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Russian		CDC GDPinfo	1234	Hs.450802			Genetic testing. 2004 ;8(1):73-6	Prevalence of alleles associated with HIV resistance in Russia.		601373	20733	2	2004	A significant linkage disequilibrium (p = 0.0034) between CCR2-64I and SDF1-3'A alleles was observed.	Cohort 171 HIV-1-seronegative individuals Moscow 										
118714		Normal distribution	NEUROLOGICAL	NEUR	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701			15575507				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Ukrainian, Russian, Belarusian	Byelarus|Russia|Ukraine	CDC GDPinfo	1234	Hs.450802			Genetika. 2004 Oct;40(10):1394-401	[Distribution of the HIV-1 resistance-conferring alleles (CCR5delta32, CCR2-64I, and SDF1 3'A) in Russian, Ukrainian, and Belarusian populations]		601373	20734	2	2004	The data on the allele frequencies and the relative hazard values in Russians, Ukrainians and Belarussians can be used as the predictors of AIDS onset and progression rate in HIV-1-infected individuals from the populations studied.	Cohort HIV-infected individuals from three native population samples from Russia, Ukraine, and Belarus 										
118709		human T lymphotropic virus type I infection	INFECTION	INF	HTLV-I Infections	3	3p21	CCR5	46387429	46392701		Hisada, M.  et al. 2002	12001056				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Jamaica	CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2002 May;185(9):1351-4	Chemokine receptor gene polymorphisms and risk of human T lymphotropic virus type I infection in Jamaica.		601373	20729	2	2002	These findings suggest that CCR2-64I, or alleles in linkage disequilibrium with it, may affect the risk of HTLV-I infection in a recessive manner.	Case:116 HTLV-I positive persons of African descent:Jamaica;Control:126 HTLV-I negative persons of African descent	human T lymphotropic virus									
118710	N	liver transplantation, immunosuppression after	IMMUNE	IMM		3	3p21	CCR5	46387429	46392701		Schroppel, B.  et al. 2002	12201365				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			American journal of transplantation. 2002 Aug;2(7):640-5	The impact of polymorphisms in chemokine and chemokine receptors on outcomes in liver transplantation.		601373	20730	2	2002	In conclusion, CCR2-641, CCR5delta32, and SDF1-3'A genotypes did not influence the risk for acute rejection or graft survival. However, in liver allograft recipients SDF1-3'A is significantly associated with higher mortality.	Cohort 207 liver transplant recipients 										
118711		HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous	3	3p21	CCR5	46387429	46392701		Wang, F. S.  et al. 2003	12571520				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese	China	CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2003 Feb;32(2):124-30	Population survey of CCR5 delta32, CCR5 m303, CCR2b 64I, and SDF1 3'A allele frequencies in indigenous Chinese healthy individuals, and in HIV-1-infected and HIV-1-uninfected individuals in HIV-1 risk groups.		601373	20731	2	2003	Our finding is the first reporting that there is likely no effect of the examined polymorphisms in our study on HIV-1 transmission in the Chinese Han population, However, the genetic effects of these and other AIDS-modifying polymorphisms on the pathogenesis and clinical outcome of HIV-1/AIDS diseases is under investigation in Chinese populations.	Cohort 3165 indigenous healthy subjects representing eight ;Case:330 HIV-1 infected (86 subjects infected by sexual transmission and 198 subjects infected by HIV-1-contaminated blood or by sharing injection equipment; the remaining 46 subjects said nothing about HIV-1 transmission);Control:474 HIV-1-uninfected Han Chinese belonging to one of										
118706		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Du, Q.  et al. 2000	11860823				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian	China	CDC GDPinfo	1234	Hs.450802			Zhonghua liu xing bing xue za zhi. 2000 Dec;21(6):413-6	[Polymorphisms of chemokine receptor alleles influencing genetic susceptibility to HIV-1 infection in Mongolia population in China]		601373	20726	2	2000	 Compared with the Caucasian American, there were higher frequencies of CCR2b-64I and SDF1-3'A alleles and lower frequency of CCR5-Delta32 allele found in Mongolian population while the factors responsible for the variation of genetic polymorphisms in different ethnic populations need to be clarified.	Cohort 134 Mongolian subjects 										
118707		HIV infection	INFECTION	INF	Hepatitis, Viral, Human|Flaviviridae Infections|HIV Infections|Viremia	3	3p21	CCR5	46387429	46392701		Tillmann, H. L.  et al. 2002	11964548				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2002 Mar;16(5):808-9	Chemokine receptor polymorphisms and GB virus C status in HIV-positive patients.		601373	20727	2	2002	On the basis of our findings we can exclude the possibility that either the chemokine receptor polymorphisms or the SDF-1 polymorphism explain the beneficial outcome of GBV-C infected patients with HIV infection	Cohort 288 HIV-positive patients typed for CCR-5 and SDF-1 Cohort 293 HIV-positive patients typed for CCR-2 	GB virus C									
118708		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Ramana, G. V.  et al. 2001	11988632				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		India	CDC GDPinfo	1234	Hs.450802			Journal of genetics. 2001 Dec;80(3):137-40	Distribution of HIV-1 resistance-conferring polymorphic alleles SDF-1-3'A, CCR2-64I and CCR5-Delta32 in diverse populations of Andhra Pradesh, South India.		601373	20728	2	2001	The mean number of mutant alleles (for the three loci together) carried by each individual varies from 0.475 (in Vizag Brahmins) to 0.959 (in Bohra Muslims). The estimated relative hazard values for the populations, computed from the three-locus genotype data, are comparable to those from Africa and Southeast Asia, where AIDS is known to be widespread.	Cohort 525 healthy individuals without any history of HIV-1 infection from 11 diverse populations Andhra Pradesh, South India 										
118703	Y	HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR5	46387429	46392701		Ioannidis, J. P.  et al. 2001	11694103				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Annals of internal medicine. 2001 Nov;135(9):782-95	Effects of CCR5-Delta32, CCR2-64I, and SDF-1 3'A Alleles on HIV-1 Disease Progression: AnInternational Meta-Analysis of Individual-Patient Data		601373	20723	2	2001	 The CCR5-Delta32 and CCR2-64I alleles had a strong protective effect on progression of HIV-1 infection, but SDF-1 3'A homozygosity carried no such protection.	Studies 19 prospective cohort studies and case-control studies United States, Europe, and Australia 										
118704		HIV; myocardial infarction	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Wang, F.  et al. 2001	11729511				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese	China	CDC GDPinfo	1234	Hs.450802			Chinese medical journal. 2001 Nov;114(11):1162-6	Genotypes and polymorphisms of mutant CCR5-delta 32, CCR2-64I and SDF1-3' a HIV-1 resistance alleles in indigenous Han Chinese		601373	20724	2	2001	 The CCR5-delta 32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese. The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791) in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.	Cohort 1251 subjects (915 men and 336 women) aged 15-80 years(none HIV-1 positive) 										
118705		HIV	NEUROLOGICAL	NEUR	HIV Infections	3	3p21	CCR5	46387429	46392701		Wang, F.  et al. 2000	11860793				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese	China	CDC GDPinfo	1234	Hs.450802			Zhonghua liu xing bing xue za zhi. 2000 Aug;21(4):256-60	[Distribution of HIV resistance CCR5-delta 32, CCR2-64 I and SDF1-3'A alleles and their polymorphisms in the Han population in China]		601373	20725	2	2000	 Our data was the first findings on the frequency and polymorphism of CCR5(Delta)32, CCR2-64I and SDF1-3'A alleles in indigenous Han population in China which implied that the indigenous Han people might have a higher genetic susceptibility to the infection of sexually transmitted HIV-1 (R-5) strain. Further study is needed to clarify the significance of higher frequency of CCR2-64I and SDF1-3'A alleles in Han population.	Cohort 1267 subjects, of which consisted 98.7% (1 251/1 267) Han people 										
118700	Y	kidney transplant rejection	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Abdi, R.  et al. 2002	11856781				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601373	20720	2	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients 										
118701		HIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Roman, F.  et al. 2002	12032878				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian	Germany	CDC GDPinfo	1234	Hs.450802			HIV clinical trials. 2002 May-Jun;3(3):195-201	Prevalence of HIV co-receptor polymorphisms in HIV-infected patients and uninfected volunteers in Luxembourg.		601373	20721	2	2002	 Overall, allele frequencies were comparable to frequencies reported in previous studies in Caucasian populations.	Control:158 uninfected, healthy volunteers;Case:288 HIV-1-infected patients:Luxembourg										
118702		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Vicenzi, E.  et al. 2000	11023492				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2000 Nov;182(5):1579-80	CCR2-64I polymorphism, syncytium-inducing human immunodeficiency virus strains, and disease progression.		601373	20722	2	2000	No correlation was found between SDF-1 genotype and viral phenotype	Case:191/40 HIV infected subjects randomly selected from the San Francisco Men's Health Study (n=191) and men from the Milan cohort (n=40)										
118697	Y	HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous|Disease Progression	3	3p21	CCR5	46387429	46392701		Nguyen, L.  et al. 2004	15362666				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Thai	Thailand	CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2004 Jun;18(9):1327-33	CCR5 promoter human haplogroups associated with HIV-1 disease progression in Thai injection drug users.		601373	20717	2	2004	 This is the first evidence that the CCR5 haplogroup E speeds the decline of the CD4 cell count and may lead to accelerated disease progression among HIV-infected Thais. These new observations highlight the need for additional studies involving populations in Asia.	Cohort 106 of 130 HIV-1-seropositive injection drug users in a pospective cohort study in Bangkok Bangkok, Thailand 										
118698		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Gharagozloo, M.  et al. 2005	15585333				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Iranian	Iran	CDC GDPinfo	1234	Hs.450802			Immunology letters. 2005 Jan;96(2):277-81	The frequency of CCR5Delta32 and CCR2-64I in southern Iranian normal population.		601373	20718	2	2005	This data is the first finding on the frequencies of CCR5Delta32 and CCR2-64I alleles in Iranian population. Results of the present study suggest that low frequency of CCR5Delta32 allele may be related to higher genetic susceptibility to the HIV-1 infection in Iranians. Results also suggest that the CCR2-64I mutation is sufficiently common in Iranians and may be associated with slower HIV infection progression in Iran.	Cohort 341 normal Iranian individuals Iran 										
118699	N	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR5	46387429	46392701		Winkler, C. A.  et al. 2004	15602133				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2004 Dec;37(4):1534-8	Dominant Effects of CCR2-CCR5 Haplotypes in HIV-1 Disease Progression.		601373	20719	2	2004	Follow-up of SP demonstrated that these polymorphisms have little effect after 8 years, because the subset of SP who had progression after study entry had the same genotype distribution as the global population of SP, suggesting that factors other than CCR5 or CCR2 genetic variants must be responsible for the long-term maintenance of nonprogression.	Cohort individuals from the GRIV cohort, which included patients representing the extremes of the distribution for AIDS progression 										
118694		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Lewandowska, M.  et al. 2003	12884524				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Polish	Poland	CDC GDPinfo	1234	Hs.450802			Genetika. 2003 Jun;39(6):831-3	Determination of the CCR2-64I/CCR5-59653T haplotype linkage disequilibrium in a sample of Polish population.		601373	20714	2	2003	Our results confirm that linkage between CCR5-59653T and CCR2-64I alleles is not absolute.	Cohort 281 individuals 										
118695	N	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	3	3p21	CCR5	46387429	46392701		Zhao, X.  et al. 2003	14533004				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Sweden	CDC GDPinfo	1234	Hs.450802			International journal of molecular medicine. 2003 Nov;12(5):749-53	Genotypes of CCR2 and CCR5 chemokine receptors in human myasthenia gravis.		601373	20715	2	2003	Results obtained from 158 patients and 272 healthy controls demonstrate no evidence of association between genetic variants of CCR2 and CCR5 with MG and its clinical manifestations. CCR2-64I and CCR5-Delta 32 genotypes are thus unlikely to be involved in protection or predisposition to MG.	Case:158 myasthenia gravis cases;Control:272 healthy controls										
118696	N	endometriosis	REPRODUCTION	REP	Endometriosis	3	3p21	CCR5	46387429	46392701		Antinolo, G.  et al. 2004	14981141				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Molecular human reproduction. 2004 Mar;10(3):155-7	Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.		601373	20716	2	2004	These data would suggest the lack of association between these polymorphisms and endometriosis in our population, although they do not permit us to discard completely a possible role of other variants within CCR5 and CCR2 genes in this pathology.	Case Spanish women with endometriosis;Control:controls										
118691		cryptosporidiosis; Mycobacterium avium complex; pneumocystis carinii pneumonia; toxoplasmosis	INFECTION	INF	AIDS-Related Opportunistic Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Ashton, L. J.  et al. 2002	12010355				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			HIV medicine. 2002 Apr;3(2):91-6	Heterozygosity for CCR5-DDelta32 but not CCR2b-64I protects against certain intracellular pathogens		601373	20711	2	2002	 Results from this study show that heterozygosity for CCR5-Delta32 but not CCR2b-64I appears to protect against opportunistic infections.	Cohort 117 homosexual men diagnosed with AIDS before January 1998 										
118692		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Viremia	3	3p21	CCR5	46387429	46392701		Dorak, M. T.  et al. 2002	12403355				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Immunologic research. 2002 ;26(3-Jan):167-75	C-C chemokine receptor 2 and C-C chemokine receptor 5 genotypes in patients treated for chronic hepatitis C virus infection		601373	20712	2	2002	Differential receptor expression due to E/E homozygosity in HCV infection remains to be confirmed.	Cohort 250 chronically infected HCV patients receiving combined interferon/ribavirin therapy 										
118693		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Clegg, A.  et al. 2003	12584049				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Clinical immunology (Orlando, Fla). 2003 Jan;106(1):36-40	Chemokine receptor genotype and response to interleukin-2 therapy in HIV-1-infected individuals		601373	20713	2	2003	This study highlights the importance of interactions between IL-2 and CCR5; at the clinical level, it argues for assessment of chemokine receptor genotype in IL-2 and perhaps other immune-based therapy trials.	Cohort 47 a cohort of HIV-1 infected individuals that received IL-2 therapy 	IL-2									
118688		HIV disease progression	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression	3	3p21	CCR5	46387429	46392701		Tang, J.  et al. 2002	11752157				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		CDC GDPinfo	1234	Hs.450802			Journal of virology. 2002 Jan;76(2):662-72	Distribution of chemokine receptor CCR2 and CCR5 genotypes and their relative contribution to human immunodeficiency virus type 1 (HIV-1) seroconversion, early HIV-1 RNA concentration in plasma, and later disease progression.		601373	20708	2	2002	Broadly consistent findings in the larger MACS Caucasian SCs and the smaller groups of MACS African-American SCs and the DCG and SFMHS Caucasian SCs indicate that specific CCR2-CCR5 haplotypes or genotypes mediate initial acquisition of HIV-1 infection, early host-virus equilibration, and subsequent pathogenesis.	Cohort 703 participants in the Multicenter AIDS Cohort Study (MACS) District of Columbia, San Francisco 										
118689	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	3	3p21	CCR5	46387429	46392701		Nakajima, K.  et al. 2002	11756347				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Japanese	Japan	CDC GDPinfo	1234	Hs.450802			Diabetes. 2002 Jan;51(1):238-42	Chemokine receptor genotype is associated with diabetic nephropathy in Japanese with type 2 diabetes.		601373	20709	2	2002	These results suggest that the CCR5 promoter 59029 A genotype may be an independent risk factor for diabetic nephropathy in patients with type 2 diabetes.	Cohort 401 patients with type 2 diabetes who had serum creatinine <2.0 mg/dl 										
118690		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Tang, J.  et al. 2002	11958683				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	African American		CDC GDPinfo	1234	Hs.450802			AIDS research and human retroviruses. 2002 Apr;18(6):403-12	CCR2 and CCR5 genotypes in HIV type 1-infected adolescents: limited contributions to variabilityin plasma HIV type 1 RNA concentration in the absence of antiretroviral therapy.		601373	20710	2	2002	Thus, among the major CCR2-CCR5 haplotypes/genotypes in chronically infected and predominantly African-American adolescents, only the E/E genotype appeared to influence early host-virus equilibration.	Control:179 seronegative adolescent participants from the Reaching for Excellence in Adolescent Care and Health (REACH) Study of the Adolescent Medicine and HIV/AIDS Research Network.;Case:228 seropositive adolescent participants from the Reaching for Excellence in Adolescent Care and Health (REACH) Study of the Adolescent Medicine and HIV/AIDS Research Network.										
118685		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Hladik, F.  et al. 2005	16140745				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of virology. 2005 Sep;79(18):11677-84	Combined effect of CCR5-Delta32 heterozygosity and the CCR5 promoter polymorphism -2459 A/G on CCR5 expression and resistance to human immunodeficiency virus type 1 transmission.		601373	20705	2	2005	We conclude that  the CCR5 ORF delta32/wt-CCR5 -2459 A/G genotype combination offers an advantage in resisting sexual HIV-1 transmission and that this effect is mediated by a relative paucity of CCR5 on potential target cells of HIV-1.											
118686		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	3	3p21	CCR5	46387429	46392701		Mettimano, M.  et al. 2005	16196460				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			British journal of biomedical science. 2005 ;62(3):133-6	Lack of association of CCR gene polymorphisms and left ventricular hypertrophy in essential hypertension.		601373	20706	2	2005												
118687	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3p21	CCR5	46387429	46392701		Gonzalez, P.  et al. 2001	11477473				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Genes and immunity. 2001 Jun;2(4):191-5	Genetic variation at the chemokine receptors CCR5/CCR2 in myocardial infarction		601373	20707	2	2001	Our data suggest that the variation at the CCR5 gene could modulate the age at the onset of MI. Patients carrying the Deltaccr5-allele would be protected against an early episode of MI. CCR5 and the CCR5-ligands are expressed by cells in the arteriosclerotic plaque. Thus, the protective role of Deltaccr5 could be a consequence of an attenuated inflammatory response, that would determine a slower progression of the arteriosclerotic lesion among Deltaccr5-carriers. Our work suggests that the pharmacological blockade of CCR5 could be a valuable therapy in the treatment of MI.	Case:214 male patients with an age at the first MI episode <55 years, 96 patients that suffered the first MI episode when older than 60 years:Asturias, Spain;Control:360 male population controls Asturias Spain										
118682	N	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Disease Progression	3	3p21	CCR5	46387429	46392701		Ruiz-Ferrer, M.  et al. 2004	15230854				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Spanish		CDC GDPinfo	1234	Hs.450802			Journal of viral hepatitis. 2004 Jul;11(4):319-23	Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies.		601373	20702	2	2004	Our results seem to indicate that the CCR5-Delta32 and CCR2-V64I polymorphisms are not related to the response to HCV infection, histological damage and outcome of infection in our cohort of Spanish HCV patients.	Control:100 healthy blood donors;Case:139 patients with hepatitis C										
118683	Y	HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Deng, X. L.  et al. 2004	15769362				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese		CDC GDPinfo	1234	Hs.450802			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1050-3	[Genetic polymorphism of human immunodeficiency virus coreceptor CCR5Delta32 and CCR2-64I alleles in Chinese Yi Ethnic group in Sichuan]		601373	20703	2	2004	 The polymorphism of CCR5Delta32 and CCR2-64I alleles from Chinese Yi Ethnic group was detected which was of significance for the evaluation of genetic resistance to HIV-1 infection in Chinese population.	Control:119 healthy individuals;Case:88 HIV-1 infected individuals of Chinese Yi Ethnic:gourp:Sichuan										
118684		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Corneal Diseases	3	3p21	CCR5	46387429	46392701		Pai, J. K.  et al. 2005	16055130				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Atherosclerosis. 2005	Polymorphisms in the CC-chemokine receptor-2 (CCR2) and -5 (CCR5) genes and risk of coronary heart disease among US women.		601373	20704	2	2005	 In this population, CCR2-CCR5 haplotypes were not associated with risk of CHD. However, our data suggest a strong inverse association for certain CCR5 variants and early age of CHD onset.											
118679	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Aguilar, F.  et al. 2003	12913933				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Spanish	Spain	CDC GDPinfo	1234	Hs.450802			The Journal of rheumatology. 2003 Aug;30(8):1770-4	Chemokine receptor CCR2/CCR5 polymorphism in Spanish patients with systemic lupus erythematosus.		601373	20699	2	2003	 Polymorphisms of CCR2 and CCR5 do not seem to be involved in susceptibility to SLE, although a slight contribution of the CCR5 polymorphism in the production of anti-dsDNA autoantibodies, in the development of lupus nephritis, and in the outcome of the disease could be postulated.	Control:194 ethnically matched controls;Case:276 patients with systemic lupus erythematosus										
118680		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Munerato, P.  et al. 2003	14533983				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Brazil	CDC GDPinfo	1234	Hs.450802			The Brazilian journal of infectious diseases. 2003 Aug;7(4):236-40	Frequency of polymorphisms of genes coding for HIV-1 co-receptors CCR5 and CCR2 in a Brazilian population.		601373	20700	2	2003	The prevalence of CCR2-64I homozygotes and heterozygotes was 0.06 and 15.2%, respectively, also similar to what is known for North America and Western Europe.	Cohort individuals from the Brazilian population 										
118681	N	Addison's disease	IMMUNE	IMM	Addison Disease	3	3p21	CCR5	46387429	46392701		Gambelunghe, G.  et al. 2004	15086346				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			European journal of immunogenetics. 2004 Apr;31(2):73-6	Lack of association of human chemokine receptor gene polymorphisms CCR2-64I and CCR5-Delta32 with autoimmune Addison's disease.		601373	20701	2	2004	Our results indicate that the CCR2-64I and CCR5-Delta32 gene polymorphisms do not play a major role in conferring genetic risk for, and/or protection against, autoimmune Addison's disease.	Control:127 healthy controls;Case:56 patients with autoimmune Addison's disease										
118676		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression	3	3p21	CCR5	46387429	46392701		Mulherin, S. A.  et al. 2003	12556692				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2003 Feb;17(3):377-87	Effects of CCR5-Delta32 and CCR2-64I alleles on HIV-1 disease progression: the protection varieswith duration of infection.		601373	20696	2	2003	 The protection against AIDS provided by CCR5-Delta32 is continuous during the course of infection. In contrast, the protection provided by CCR2-64I is greatest early in the course of infection.	Cohort 1635/215 HIV-1 seroconverters of European (n = 1635) or African (n = 215) ancestry 										
118677		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR5	46387429	46392701		Mettimano, M.  et al. 2003	12680626				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			British journal of biomedical science. 2003 ;60(1):19-21	CCR5 and CCR2 gene polymorphisms in hypertensive patients.		601373	20697	2	2003	To date, a role for the immune system in hypertension has not been clarified, nor has the predictive value of CCR polymorphisms.	Case:120 essential hypertensive patients;Control:340 healthy Caucasian subjects										
118678	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Ioannidis, J. P.  et al. 2003	12853745				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2003 Jul;17(11):1631-8	Effects of CCR5-delta32 and CCR2-64I alleles on disease progression of perinatally HIV-1-infected children: an international meta-analysis.		601373	20698	2	2003	 The CCR5-delta32 and CCR2-64I alleles are associated with a decreased risk of death among perinatally infected children, but only for the first years of life.	Cohort 1317 HIV-1 infected children from 10 studies 										
118673	Y	HIV infection	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Knudsen, T. B.  et al. 2001	11596075				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of medical virology. 2001 Nov;65(3):441-4	Adverse effect of the CCR5 promoter -2459A allele on HIV-1 disease progression.		601373	20693	2	2001	Homozygous carriers of the -2459A allele that lack the protective effects of the CCR5 Delta32 and CCR2 64I mutations were found to have a median survival of 6.0 years, whereas carriers of the -2459G allele had a median survival of 9.4 years (P < 0.01).	Cohort 119 individuals enrolled in the Copenhagen AIDS Cohort 										
118674		HIV	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Mangano, A.  et al. 2001	11696224				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Indian		CDC GDPinfo	1234	Hs.450802			Tissue antigens. 2001 Aug;58(2):99-102	Distribution of CCR5-Delta32 and CCR2-64I alleles in an Argentine Amerindian population		601373	20694	2	2001	In conclusion, the protective deletion CCR5-Delta32 is practically absent in Chiriguanos whereas the CCR2-64I allele is highly frequent.	Cohort 42 Chiriguanos individuals that are aboriginal inhabitants of the north west of Argentina Argentiona 										
118675		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Wit, F. W.  et al. 2002	12447757				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of infectious diseases. 2002 Dec;186(12):1726-32	CC chemokine receptor 5 delta32 and CC chemokine receptor 2 64I polymorphisms do not influence the virologic and immunologic response to antiretroviral combination therapy in human immunodeficiency virus type 1-infected patients.		601373	20695	2	2002	There were no major differences between subjects with and without polymorphisms in the CCR5 and/or CCR2 genes with respect to the rate of initial viral clearance, proportion of subjects with plasma HIV-1 RNA levels below the lower limit of quantification, rate of virologic treatment failure, immunologic responses, and disease progression during 96 weeks of follow-up.	Cohort 130 HIV-1 infected patients 										
118670		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Herfarth, H.  et al. 2001	11377705				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Immunology letters. 2001 Jun;77(2):113-7	Polymorphism of CC chemokine receptors CCR2 and CCR5 in Crohn's disease.		601373	20690	2	2001	These results iYdicate that the differeYt CCR5 but Yot CCR2 alleles may iYflueYce disease behaviour aYd thereby coYtribute to the observed heterogeYeity of CD. However, the associatioYs observed are limited aYd await replicatioY iY other datasets. CCR2 aYd CCR5 polymorphisms are uYlikely to be importaYt determiYaYts of overall disease susceptibility.	Case:235 Crohn's disease patients;Control:346 healthy controls										
118671		diabetes, type 1; renal transplant outcome	IMMUNE	IMM		3	3p21	CCR5	46387429	46392701		Iyer, R. K.  et al. 2001	11385319				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Diagnostic molecular pathology. 2001 Jun;10(2):105-10	A multiethnic study of Delta32ccr5 and ccr2b-V64I allele distribution in four Los Angeles populations.		601373	20691	2	2001	The observed population differences in Delta32ccr5 and ccr2b-V64I frequencies, considered together with their documented effects on sensitivity to HIV infection and rate of disease progression, have implications for HIV transmission patterns in the United States, as well as for AIDS prediction, monitoring, and treatment.	Cohort 472 individuals of a multiethnic cohort Four Los Angeles Populations 										
118672	Y	HIV infection	INFECTION	INF	HIV Infections|HIV Seropositivity|Hemophilia A|Disease Progression	3	3p21	CCR5	46387429	46392701		Kageyama, S.  et al. 2001	11485615				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Japanese	Japan	CDC GDPinfo	1234	Hs.450802			AIDS research and human retroviruses. 2001 Jul;17(11):991-5	Polymorphism of CCR5 affecting HIV disease progression in the Japanese population		601373	20692	2	2001	Thus we found that a CCR5 SNP and haplotype polymorphism affect HIV disease progression even in the Japanese population. This indicates that the CCR5 genetic polymorphism affecting disease progression should be studied in a wider range of population.	Cohort 98 Japanese HIV-positive individuals Japan 										
118667	Y	nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Nakajima, K.  et al. 2003	12610055				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Japan	CDC GDPinfo	1234	Hs.450802			Diabetes care. 2003 Mar;26(3):892-8	RANTES promoter genotype is associated with diabetic nephropathy in type 2 diabetic subjects.		601373	20687	2	2003	 The RANTES promoter -28G genotype and CCR5 promoter 59029A genotype may be independent risk factors for diabetic nephropathy in patients with type 2 diabetes and may have an additive effect on nephropathy.	Cohort 616 Japanese subjects with type 2 diabetes 										
118668	Y	Wegener's granulomatosis	OTHER	OTH	Wegener Granulomatosis|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Zhou, Y.  et al. 2003	12858455				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Journal of rheumatology. 2003 Jul;30(7):1541-7	Relative importance of CCR5 and antineutrophil cytoplasmic antibodies in patients with Wegener's granulomatosis.		601373	20688	2	2003	 CCR5 and its ligands are abundantly present in pulmonary lesions in WG. The absence of a genetic deletion for CCR5 (CCR5 Delta32) in WG patients lacking ANCA suggests that CCR5 may exert a particularly important pathogenetic role in those patients. Another subset of patients (approximately 20%) with WG possessed a genetic deletion for CCR5. That each of these patients was ANCA positive implies that an alternative pathway to CCR5 may exist, for which ANCA may be especially important.	Case:118 Caucasian patients with Wegener's granulomatosis;Control:127 ethnically matched healthy controls										
118669		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Kantarci, O. H.  et al. 2005	16182378				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of neuroimmunology. 2005 Dec;169(2-Jan):137-43	CCR5Delta32 polymorphism effects on CCR5 expression, patterns of immunopathology and disease course in multiple sclerosis.		601373	20689	2	2005												
118664		HIV	INFECTION	INF	HIV Seropositivity	3	3p21	CCR5	46387429	46392701			16358723	CCR5de132			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Russian	Russia	CDC GDPinfo	1234	Hs.450802			Genetika. 2005 Nov;41(11):1559-62	[Comparison CCR5de132 mutation in the CCR5 gene frequencies in Russians, Tuvinians, and in different groups of HIV-infected individuals]		601373	15671	2	2005												
118665		HIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Fellay, J.  et al. 2002	11809184				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Lancet. 2002 Jan;359(9300):30-6	Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: apharmacogenetics study.		601373	20685	2	2002	The polymorphism MDR1(ABCB1) 3435 C/T predicts immune recovery after initiation of antiretroviral treatment. This finding suggests that P-glycoprotein has an important role in admittance of antiretroviral drugs to restricted compartments in vivo.	Cohort 123 HIV-1-infected patients 	antiretroviral									
118666		HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		McDermott, D. H.  et al. 2000	11125885				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Africa|North America	CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2000 Dec;14(17):2671-8	Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study.		601373	20686	2	2000	 These data implicate the RANTES-403A allele as a risk factor for HIV transmission and as a protective factor for HIV progression.	Case HIV positive participants of the Multicenter AIDS Cohort Study;Control exposed, uninfected participants of the Multicenter AIDS Cohort Study	HIV									
118661		HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous	3	3p21	CCR5	46387429	46392701		Riabov, G. S.  et al. 2002	12271718				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Russia	CDC GDPinfo	1234	Hs.450802			Voprosy virusologii. 2002 Jul-Aug;47(4):13-6	[The HIV-infection outbreak in the town Lys'va (Perm region): homozygote genotype CCR5delta32/CCR5 delta32 provides the high level of the persistence in the parenteral transmission of the virus]		601373	15649	2	2002	Thus, the homozygosity for this mutant allele confers a high resistance level to HIV even in parenteral transmission.	Cohort 74 HIV-infected and in non-infected but HIV-exposed drug users Lysva, the Perm region Nov, 1998 - Mar, 2000 										
118662	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Kantor, R.  et al. 2003	12874407				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Israel|Europe, Eastern|Germany|Portugal|Spain	CDC GDPinfo	1234	Hs.450802			Neurology. 2003 Jul;61(2):238-40	A mutated CCR5 gene may have favorable prognostic implications in MS.		601373	15654	2	2003	Mutated CCR5 allele may be considered a favorable prognostic factor in MS.	Cohort 256 patients with multiple sclerosis 										
118663		HIV	INFECTION	INF	Pregnancy Complications, Infectious|HIV Infections|Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Kamkamidze, G.  et al. 2005	15821335				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Georgia		CDC GDPinfo	1234	Hs.450802			Georgian medical news. 2005	32-nucleotide deletion, associated with defence against hiv/aids, is a predominant mutation of CCR5 gene in the population of Georgia.		601373	15668	2	2005	Our findings differ from the existing data showing the absence of the CCR5-delta32 mutation among Georgians and provide further support to the hypothesis on a Northeastern European origin of this mutation and North to South gradient of its distribution.	Cohort 190 women randomly selected from the cohort of pregnant women involved in the program of prevention of mother-to-child HIV transmission Georgia 										
118658	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR5	46387429	46392701		Dubois-Laforgue, D.  et al. 2001	11334429				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Diabetes. 2001 May;50(5):1211-3	A common stromal cell-derived factor-1 chemokine gene variant is associated with the early onset of type 1 diabetes.		601373	15640	2	2001	Our results suggest that stromal cell-derived factor-1 may be implicated in the aggressiveness of the autoimmune process leading to type 1 diabetes. These preliminary data require replication in other populations.	Control:120 Caucasian control subjects;Case:208 unrelated Caucasian patients with type 1 diabetes										
118659	Y	HIV infection	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Sei, S.  et al. 2001	11504955				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			AIDS (London, England). 2001 Jul;15(11):1343-52	Protective effect of CCR5 delta 32 heterozygosity is restricted by SDF-1 genotype in children with HIV-1 infection.		601373	15642	2	2001	 In pediatric AIDS, the protective effect of CCR5 wt/Delta 32 is more pronounced in early years of infection and appears to be abrogated by the SDF1-3'A genotype.	Cohort 127 (58 Caucasians, 60 African-Americans and nine Hispanics) perinatally HIV-1-infected children 										
118660		hepatitis C	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Limborska, S. A.  et al. 2002	11901272	CCR5-DDelta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Human heredity. 2002 ;53(1):49-54	Analysis of CCR5Delta32 geographic distribution and its correlation with some climatic and geographic factors.		601373	15646	2	2002	We propose that the existence of correlations between the cline of CCR5Delta32 frequencies and climatic-geographic parameters provides evidence for a possible effect of either natural environmental factors or large-scale population movements on the distribution of this allele.	Cohort Russian, Ukrainian, and Moldavian populations 										
118655	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Vidal, F.  et al. 2005	16249700				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Spain	CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2005 Nov;40(3):276-9	Lack of association of SDF-1 3'A variant allele with long-term nonprogressive HIV-1 infection is extended beyond 16 years.		601373	9216	2	2005										N		long-term nonprogressive HIV-1 infection
118656		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Vidal, F.  et al. 2005	16284527				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Spanish	Spain	CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2005 Dec;40(5):527-31	Spanish HIV-1-Infected Long-Term Nonprogressors of More Than 15 Years Have an Increased Frequency of the CX3CR1 249I Variant Allele.		601373	9218	2	2005	 CX3CR1 249I variant allele is more frequent in Spanish HIV-1-infected LTNPs of >15 years. This effect is independent of the presence of the CCR5Delta32 allele.			CX3CR1	249I					Y		HIV-1 patients who are long-term nonprogressors
118657		HIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Tang, J.  et al. 1999	11197301			promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Rwanda|New York City	CDC GDPinfo	1234	Hs.450802			Genes and immunity. 1999 Sep;1(1):20-7	Allelic variants of human beta-chemokine receptor 5 (CCR5) promoter: evolutionary relationships andpredictable associations with HIV-1 disease progression		601373	15639	2	1999	Our studies revealed five major CCR5 promoter alleles with distributions that differed widely among the four distinct ethnic groups from Kigali, Rwanda and Bronx, New York.	Cohort four distinct ethnic groups from Kigali, Rwanda and Bronx, New York 										
118651	N	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	3	3p21	CCR5	46387429	46392701		Liu, C.  et al. 2004	15385740				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	non-Hispanic homosexual men		CDC GDPinfo	1234	Hs.450802			Journal of acquired immune deficiency syndromes (1999). 2004 Oct;37(2):1313-7	Lack of associations between HLA class II alleles and resistance to HIV-1 infection among white, non-Hispanic homosexual men.		601373	9202	2	2004												
118652		longevity	AGING	AGE		3	3p21	CCR5	46387429	46392701			15651660				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Vestn Ross Akad Med Nauk. 2004 ;(11):25-8	[Functional polymorphism of p53 and CCR5 genes in long-livers of a Siberian Region]		601373	9207	2	2004	A trend was detected towards accumulation of the p53 Pro alleles in association with the CCR5del32 allele in the study group, which, as the authors believe, can enhance the genome resistance to variable factors that cut the life span.	Cohort 131 long-livers from Novosibirsk and Tyumen Regions 										
118653		asthma	IMMUNE	IMM	HIV Infections	3	3p21	CCR5	46387429	46392701		Li, C.  et al. 2005	15787642			promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese	China	CDC GDPinfo	1234	Hs.450802			International journal of immunogenetics. 2005 Apr;32(2):99-106	Distribution of human chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms and haplotypes of the CC chemokine receptor 5 (CCR5) promoter in Chinese people, and the effects of CCR5 haplotypes on CCR5 expression.		601373	9209	2	2005	Therefore, this study not only reports the frequencies for the CX(3)CR1 and CCR5 promoter haplotypes in a Chinese population living in Taiwan, but also identifies a statistical link between the P1/P1 haplotype and the elevated CCR5 expression levels in the study group.	Cohort 96 HIV-negative Chinese individuals Taiwan 										
118648		aortic stenosis	CARDIOVASCULAR	CARD	Aortic Valve Stenosis|Calcinosis|Fibrosis	3	3p21	CCR5	46387429	46392701		Ortlepp, J. R.  et al. 2004	15039132				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			European heart journal. 2004 Mar;25(6):514-22	The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis		601373	9191	2	2004	 Calcification of stenotic aortic valves consists of Ca-deficient hexagonal hydroxyapatite. Gender and genetic polymorphisms have an impact on the degree of aortic valve calcification.	Cohort 187 individuals whose stenotic aortic valve was excised 										
118649		HIV; hypertension; nephrotic syndrome	INFECTION	INF	Respiratory Tract Infections|Cystic Fibrosis|Chronic Disease	3	3p21	CCR5	46387429	46392701			15125257				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian	Russia	CDC GDPinfo	1234	Hs.450802			Genetika. 2004 Mar;40(3):409-14	[VNTR-polymorphism of the PAH, e-NOS genes and deletion of the CCR5 gene in populations in the northern Caucasus]		601373	9194	2	2004	For each population observed and expected heterozygosities at each locus were calculated. In general, the gene pool of Northern Caucasian populations showed substantial differentiation at	Cohort four indigenous populations of Northern Caucasus, Adygs, Kumyks, Karachais, and Nogais (Kuban and Karanogais) Northern Caucasus 										
118650		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Tiensiwakul, P.   2004	15192272				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Thai	Thailand	CDC GDPinfo	1234	Hs.450802			Intervirology. 2004 ;47(2):87-92	Stromal cell-derived factor (SDF) 1-3'A polymorphism may play a role in resistance to HIV-1 infection in seronegative high-risk Thais.		601373	9197	2	2004	 The finding is relevant as regards the fact that SDF1-3'A polymorphism induces an increase of SDF1 chemokine production, in which it competes with HIV-1 in binding to CXCR4 receptor, and in turn inhibits HIV-1 infection. The SDF1-3'A-mediated resistant mechanism in Thais differs from that of CCR5-Delta32-mediated resistance in Caucasians. This study provides the first evidence for SDF-3'A polymorphism in resistance to HIV-1 infection in Thais, and may represent the resistant mechanism in the extremely rare CCR5-Delta32 mutant of other ethnic groups such as Africans and Japanese.	Control normal blood donors;Case:432 seronegative Thai prostitutes at high risk:Thailand										
118645	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	3	3p21	CCR5	46387429	46392701		Petrek, M.  et al. 2002	12412204				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		CDC GDPinfo	1234	Hs.450802			Clinical and experimental rheumatology. 2002 Sep-Oct;20(5):701-3	CC chemokine receptor 5 and interleukin-1 receptor antagonist gene polymorphisms in patients with primary Sjogren's syndrome.		601373	9179	2	2002	 In this population of patients with Sj??n's syndrome, the frequency of CCR5 delta 32/CCR5 genotype is significantly decreased. The data suggests that carrier status for the CCR5 delta 32 allele may contribute to protection from the development of primary Sj??n's syndrome. In contrast, IL-1Ra VNTR polymorphism does not confer susceptibility to primary Sj??n's syndrome in Slovak Caucasians.	Case:39 Caucasian Slovak unrelated patients with primary Sjogren's syndrome;Control:76 Caucasian Slovak unrelated healthy controls										
118646		HIV	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Liu, M.  et al. 2003	12579509				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Chinese		CDC GDPinfo	1234	Hs.450802			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):72-4	[Single nucleotide polymorphism loci of HIV-1 coreceptor CCR5 gene in Chinese Han people]		601373	9185	2	2003	 The SNP loci in the coding region of CCR5 in Chinese Han people has its own characteristics, which is not consistent with those of Japanese and obviously different from those of Caucasian and African.	Cohort 42 Chinese Han healthy subjects 										
118647		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Luomala, M.  et al. 2003	14616291			promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Acta neurologica Scandinavica. 2003 Dec;108(6):396-400	Promoter polymorphism of IL-10 and severity of multiple sclerosis.		601373	9190	2	2003	Our results suggest that differential production of IL-10 might be a factor in the severity of MS.	Control:109,400:controls;Case:93,116 multiple sclerosis patients										
118642		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR5	46387429	46392701		Mazzucchelli, R.  et al. 2001	11693435				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Journal of biological regulators and homeostatic agents. 2001 Jul-Sep;15(3):265-71	Role of CCR5, CCR2 and SDF-1 gene polymorphisms in a population of HIV-1 infected individuals		601373	9165	2	2001	Taken together, our results indicate that genetic background involving CCR5, CCR2 and SDF-1 alleles may play a limited role in the natural history of HIV-1 infection.	Case:112 subjects with a typical course of HIV-1 infection;Control:117 healthy controls										
118643		polymyalgia rheumatica	OTHER	OTH	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Majumder, P. P.  et al. 2001	11781692				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian	India	CDC GDPinfo	1234	Hs.450802			European journal of human genetics. 2001 Oct;9(10):794-6	Absence of the HIV-1 protective Delta ccr5 allele in most ethnic populations of India.		601373	9169	2	2001	We find that this protective allele is absent in most ethnic populations of India, except some populations of the northern and western regions where this allele may have been introduced by Caucasian gene flow. The implications of this finding are discussed in the light of increasing HIV prevalence in India.	Cohort ethnic populations of India 										
118644		graft versus host disease	IMMUNE	IMM		3	3p21	CCR5	46387429	46392701		Daly, A. K.  et al. 2002	12083951				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		601373	9177	2	2002	Review article											
118639		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR5	46387429	46392701		Szalai C 2004	10400139				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			Y Wang	1234	Hs.450802			Pediatric research. 1999 Jul;46(1):82-4	Chemokine receptor CCR2 and CCR5 polymorphisms in children with insulin-dependent diabetes mellitus.		601373	1330	1	2004												
118640	N	polymyalgia rheumatica	OTHER	OTH	Polymyalgia Rheumatica	3	3p21	CCR5	46387429	46392701		Salvarani, C.  et al. 2000	11072599				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			Clinical and experimental rheumatology. 2000 Sep-Oct;18(5):591-5	Absence of the association with CC chemokine receptor 5 polymorphism in polymyalgia rheumatica		601373	9156	2	2000	 These results indicate that the frequency of the 32 deletion of the CCR5 receptor was not significantly different between PMR patients and healthy controls, and this genotype does not appear to be associated with the susceptibility to or severity of PMR.	Control:86 healthy blood donors from the same geographic area;Case:88 consecutive patients with PMR residing in the Reggio Emilia area who had a follow-up duration of at least one year:Italy										
118641		HIV infection	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Motta, P.  et al. 2000	11188946				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		CDC GDPinfo	1234	Hs.450802			Medicina. 2000 ;60(4):431-4	[Frequency of the mutated allele of CCR-5 receptor in HIV-1 positive and negative individuals in the Province of Chaco]		601373	9159	2	2000	The frequency of the delta CCR-5 allele was 2.5% for homozygous and 15.3% for heterozygous seronegative subjects, similar to that reported in the Caucasian population; the homozygous CCR-5 allele was absent in HIV-1 positive patients and the frequency of heterozygous was 2.5%, significantly lower than reported in the Caucasian population.	Control:118 unrelated seronegative healthy blood donors:Chaco, Argentina;Case:80 seropositive HIV-1 subjects:Chaco, Argentina	HIV									
118636	Y	HCV infection	INFECTION	INF	Hepatitis C|Liver Cirrhosis	3	3p21	CCR5	46387429	46392701		Hellier S 2003	14647058				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2~~~ with outcome of HCV infection.		601373	1327	1	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort	hepatitis C treatment									
118637	N	Endometriosis	REPRODUCTION	REP	Endometriosis	3	3p21	CCR5	46387429	46392701	0.34	Antinolo G 2004	14981141	Delta32		other	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Spanish		KGB	1234	Hs.450802			Molecular human reproduction. 2004 Mar;10(3):155-7	Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.		601373	1328	1	2004	These data would suggest the lack of association between these polymorphisms and endometriosis in our population, although they do not permit us to discard completely a possible role of other variants within CCR5 and CCR2 genes in this pathology.	Case Spanish women with endometriosis;Control:controls										
118638		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR5	46387429	46392701		Szalai C 2004	10400139				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			Y Wang	1234	Hs.450802			Pediatric research. 1999 Jul;46(1):82-4	Chemokine receptor CCR2 and CCR5 polymorphisms in children with insulin-dependent diabetes mellitus.		601373	1329	1	2004												
118632	Y	severe RSV bronchiolitis	INFECTION	INF	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701	0.01	Hull J 2003	12964123	-2459G	not known	5'promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	UK Caucasian		KGB	1234	Hs.450802			The Journal of infectious diseases. 2003 Sep;188(6):904-7	Variants of the chemokine receptor CCR5 are associated with severe bronchiolitis caused by respiratory syncytial virus.		601373	1323	1	2003		Case:570; Control:570										
118633	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Aguilar F 2003	12913933				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Spanish	Spain	KGB	1234	Hs.450802			The Journal of rheumatology. 2003 Aug;30(8):1770-4	Chemokine receptor CCR2/CCR5 polymorphism in Spanish patients with systemic lupus erythematosus.		601373	1324	1	2003	 Polymorphisms of CCR2 and CCR5 do not seem to be involved in susceptibility to SLE, although a slight contribution of the CCR5 polymorphism in the production of anti-dsDNA autoantibodies, in the development of lupus nephritis, and in the outcome of the disease could be postulated.	Control:194 ethnically matched controls;Case:276 patients with systemic lupus erythematosus										
118634		chronic hepatitis C	INFECTION	INF	Hepatitis C, Chronic	3	3p21	CCR5	46387429	46392701		Glas J 2003	12865070	delta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Clinical immunology (Orlando, Fla). 2003 Jul;108(1):46-50	The Delta 32 mutation of the chemokine-receptor 5 gene neither is correlated with chronic hepatitis C nor does it predict response to therapy with interferon-alpha and ribavirin.		601373	1325	1	2003												
118629	N	Asthma	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	n	Unoki M 2000	10830912	G2076T			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Japan	KCB	1234	Hs.450802			Human genetics. 2000 Apr;106(4):440-6			601373	1320	1	2000												
118630	Y	Human Renal Transplantation	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701	P = 0.016	Abdi R 2002	11856781	CCR5 59029A/G			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601373	1321	1	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients										
118631		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Yang C 2003	13678468				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Thailand	KGB	1234	Hs.450802	persistently seronegative female sex-workers		AIDS research and human retroviruses. 2003 Aug;19(8):661-5	Polymorphisms in the CCR5 coding and noncoding regions among HIV type 1-exposed, persistently seronegative female sex-workers from Thailand.		601373	1322	1	2003												
118624	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		McGinnis R et al. 2002	12437612				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			European journal of immunogenetics. 2002 Dec;29(6):525-8	Further support for the association of CCR5 allelic variants with asthma susceptibility.		601373	1315	1	2002												
118626	N	altered CCR5 expression or coreceptor function	IMMUNE	IMM		3	3p21	CCR5	46387429	46392701	n	Mariani R et al. 1999	9971830				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Journal of virology. 1999 Mar;73(3):2450-9	CCR2-64I polymorphism is not associated with altered CCR5 expression or coreceptor function.		601373	1317	1	1999												
118627	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	3	3p21	CCR5	46387429	46392701		Gomez-Reino JJ et al. 1999	10323455				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Arthritis and rheumatism. 1999 May;42(5):989-92	Association of rheumatoid arthritis with a functional chemokine receptor CCR5.		601373	1318	1	1999	 The results suggest that the CCR5 receptor plays an important role in RA and may be a suitable target for therapy.											
118620	Y	Physician diagnosed asthma	IMMUNE	IMM	Asthma|Respiratory Sounds	3	3p21	CCR5	46387429	46392701	P=.006	Srivastava P 2003	12612298		reduced risk of asthma	coding sequence	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		Peter J helms	1234	Hs.450802	Chidhood only asthma		Thorax. 2003 Mar;58(3):222-6			601373	1311	1	2003	 In a population with a high allelic frequency for the CCR5Delta32 mutation, a significant protection against childhood asthma is evident which is independent of atopy. This protection is lost in the transition between childhood and early adulthood. The contribution of different genetic candidates to the expression of asthma may change with advancing maturity and confound the interpretation of association and linkage studies unless age is taken into account.	Case:77; Control:431										
118622	Y	HIV-1 infection	IMMUNE	IMM	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR5	46387429	46392701		de Roda Husman AM et al. 1997	9382366				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Annals of internal medicine. 1997 Nov;127(10):882-90	Association between CCR5 genotype and the clinical course of HIV-1 infection.		601373	1313	1	1997	 The addition of CCR5 genotype to currently available laboratory markers may allow better estimation of the clinical course of HIV-1 infection.											
118623	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	3	3p21	CCR5	46387429	46392701		Favorova OO et al. 2002	12451219				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Russia	KGB	1234	Hs.450802			Neurology. 2002 Nov;59(10):1652-5	The chemokine receptor CCR5 deletion mutation is associated with MS in HLA-DR4-positive Russians.		601373	1314	1	2002												
118616	Y	Rheumatoid Arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701	p=0.012	Zapico I 2000	11196706	CCR5Delta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Asturias. Spain (Caucasians)		TJB	1234	Hs.450802			Genes and immunity. 2000 ;1(4):288-9			601373	1307	1	2000		Case:160; Control:500										
118617	Y	Asthma	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	P=0.0031	Hall I 1999	10520641	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Scottish children	Scotland	KCB	1234	Hs.450802			Lancet. 1999 Oct;354(9186):1264-5			601373	1308	1	1999		Case:415										
118618	Y	Asthma	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	P=0.0031	Hall IP 1999	10520641	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian	Scotland	KCB	1234	Hs.450802			Lancet. 1999 Oct;354(9186):1264-5			601373	1309	1	1999		Case:415										
118619	N	HIV Infected Long- Term Nonprogressors	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701	n	Cohen OJ 1998	9621092	12 different point mutations were found scattered over the CCR5			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Journal of virology. 1998 Jul;72(7):6215-7			601373	1310	1	1998												
118612	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21	CCR5	46387429	46392701	n	Mitchell TJ 2000	11081537	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Western Australia|Great Britain	KCB	1234	Hs.450802			Lancet. 2000 Oct;356(9240):1491-2			601373	1303	1	2000												
118613	N	Asthma severity	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	n	Sandford AJ 2001	11447384	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		KCB	1234	Hs.450802			The Journal of allergy and clinical immunology. 2001 Jul;108(1):69-73			601373	1304	1	2001	 These data indicate that the CCR5*D32 allele is not a genetic risk factor for the development of asthma and does not influence disease severity. The CCR5*D32 allele does not influence RANTES production in the heterozygous state.											
118615	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3p21	CCR5	46387429	46392701	P = 0.004	Gonzalez P 2001	11477473	Delta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian (Asturias. northern Spain)		KGB	1234	Hs.450802			Genes and immunity. 2001 Jun;2(4):191-5	Genetic variation at the chemokine receptors CCR5/CCR2 in myocardial infarction		601373	1306	1	2001	Our data suggest that the variation at the CCR5 gene could modulate the age at the onset of MI. Patients carrying the Deltaccr5-allele would be protected against an early episode of MI. CCR5 and the CCR5-ligands are expressed by cells in the arteriosclerotic plaque. Thus, the protective role of Deltaccr5 could be a consequence of an attenuated inflammatory response, that would determine a slower progression of the arteriosclerotic lesion among Deltaccr5-carriers. Our work suggests that the pharmacological blockade of CCR5 could be a valuable therapy in the treatment of MI.	Case:214 male patients with an age at the first MI episode <55 years, 96 patients that suffered the first MI episode when older than 60 years:Asturias, Spain;Control:360 male population controls Asturias Spain										
118608	Y	Renal Transplant Survival	RENAL	REN		3	3p21	CCR5	46387429	46392701	p=0.033	Fischereder M 2001	11403814	CCR5Delta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		TJB	1234	Hs.450802			Lancet. 2001 Jun;357(9270):1758-61			601373	1299	1	2001												
118609	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21	CCR5	46387429	46392701	n	Mitchell TJ 2000	11081537	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian (U.K.. Australian)	Western Australia|Great Britain	KCB	1234	Hs.450802			Lancet. 2000 Oct;356(9240):1491-2			601373	1300	1	2000												
118610	N	Asthma severity	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	n	Sandford AJ 2001	11447384	CC5-delta 32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KCB	1234	Hs.450802			The Journal of allergy and clinical immunology. 2001 Jul;108(1):69-73			601373	1301	1	2001	 These data indicate that the CCR5*D32 allele is not a genetic risk factor for the development of asthma and does not influence disease severity. The CCR5*D32 allele does not influence RANTES production in the heterozygous state.											
118611		Asthma or Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21	CCR5	46387429	46392701		Mitchell TJ 2000	11081537				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Western Australia|Great Britain	KCB	1234	Hs.450802			Lancet. 2000 Oct;356(9240):1491-2			601373	1302	1	2000												
118604	N	systemic lupus erythematosus	IMMUNE	IMM	Rheumatic Diseases	3	3p24	CCR4	32968069	32971407	n	Kato H et al. 1999	11196669				Chemokine (C-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005508.4	Japanese		Tsuchiya N	1233	Hs.184926			Genes and immunity. 1999 Nov;1(2):97-104			604836	1296	1	1999		Case:66; Control:304										
118605	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	3	3p24	CCR4	32968069	32971407	n	Kato H et al. 1999	11196669				Chemokine (C-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005508.4	Japanese		Tsuchiya N	1233	Hs.184926			Genes and immunity. 1999 Nov;1(2):97-104			604836	1297	1	1999		Case:145; Control:304										
118606	N	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	3	3p24	CCR4	32968069	32971407		Tsunemi, Y.  et al. 2004	15202833				Chemokine (C-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005508.4	Japanese	Japan	CDC GDPinfo	1233	Hs.184926			Acta dermato-venereologica. 2004 ;84(3):187-90	Lack of association of CCR4 single nucleotide polymorphism with atopic dermatitis in Japanese patients.		604836	9154	2	2004	C1014T SNP of CCR4 does not appear to be associated with susceptibility to atopic dermatitis in Japanese patients.	Control:controls;Case Japanese patients with atopic dermatitis										
118607	N	Inflammatory Bowel Disease	IMMUNE	IMM	Inflammatory Bowel Diseases	3	3p21	CCR5	46387429	46392701	n	Rector A 2001	11354628	CCR5delta32			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Human genetics. 2001 Mar;108(3):190-3			601373	1298	1	2001												
118601	N	hepatitis C	INFECTION	INF	Hepatitis C|Fibrosis	3	3p21.3	CCR3	46180099	46283166		Mascheretti, S.  et al. 2004	15086398				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2			CDC GDPinfo	1232	Hs.506190			Clinical and experimental immunology. 2004 May;136(2):328-33	Genetic variants in the CCR gene cluster and spontaneous viral elimination in hepatitis C-infected patients.		601268	20684	2	2004	The G190A polymorphism (variant allele Ile64) in the first transmembrane domain of CCR2 was under-represented in the 29 patients who had cleared the hepatitis C virus spontaneously (P = 0.018). None of the other variants in the CCR gene cluster showed association with the natural course of the infection, stage of fibrosis or response to therapy.	Control:370 matched controls;Case:465 consecutively recruited patients infected with HCV										
118602		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	3	3p21.3	CCR3	46180099	46283166		Park, B. L.  et al. 2004	15607028				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Korean	Korea	CDC GDPinfo	1232	Hs.506190			Journal of biochemistry and molecular biology. 2004 Nov;37(6):691-9	Association of interleukin 10 haplotype with low bone mineral density in Korean postmenopausal women		601268	24115	2	2004	Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.	Cohort 370 Korean postmenopausal women 										
118603		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	3	3p21.3	CCR3	46180099	46283166		Hellier, S.  et al. 2003	14647058				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2			CDC GDPinfo	1232	Hs.506190			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		601268	26805	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
118597	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	3	3p21.3	CCR3	46180099	46283166	n	Kato H et al. 1999	11196669				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese		Tsuchiya N	1232	Hs.506190			Genes and immunity. 1999 Nov;1(2):97-104			601268	1294	1	1999		Case:145; Control:304										
118598	N	Asthma	IMMUNE	IMM	Asthma	3	3p21.3	CCR3	46180099	46283166	n	Unoki M 2000	10830912	C-174T			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2		Japan	KCB	1232	Hs.506190			Human genetics. 2000 Apr;106(4):440-6			601268	1295	1	2000												
118599	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21.3	CCR3	46180099	46283166		Fukunaga, K.  et al. 2001	11307756				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese	Japan|Great Britain	CDC GDPinfo	1232	Hs.506190			The European respiratory journal. 2001 Jan;17(1):59-63	Genetic polymorphisms of CC chemokine receptor 3 in Japanese and British asthmatics.		601268	9153	2	2001	In conclusion, a significant association between asthma and CCR3 T51C polymorphism localized on chromosome 3p21 was found.	Case:142 Caucasian asthmatic hospital patients:England;Case:142 Caucasian asthmatics:Britain;Control:181 healthy, Japanese volunteers without a history of asthma recruited from the same area:Japan;Control:181 nonasthmatic controls:Japan;Case:210 Asian asthmatics:Japan;Case:210 Japanese asthmatic hospital patients:Japan;Control:92 healthy, Caucasian volunteers without a history of asthma recruited from the same area:England										
118593	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21.3	CCR3	46180099	46283166	p<0.01	Fukunaga K 2001	11307756	CCR3-T971C			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese. British	Japan|Great Britain	KCB	1232	Hs.506190			The European respiratory journal. 2001 Jan;17(1):59-63	Genetic polymorphisms of CC chemokine receptor 3 in Japanese and British asthmatics.		601268	1290	1	2001	In conclusion, a significant association between asthma and CCR3 T51C polymorphism localized on chromosome 3p21 was found.	Case:142 Caucasian asthmatic hospital patients:England;Case:142 Caucasian asthmatics:Britain;Control:181 healthy, Japanese volunteers without a history of asthma recruited from the same area:Japan;Control:181 nonasthmatic controls:Japan;Case:210 Asian ast										
118595	N	systemic lupus erythematosus	IMMUNE	IMM	Rheumatic Diseases	3	3p21.3	CCR3	46180099	46283166	n	Kato H et al. 1999	11196669				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese		Tsuchiya N	1232	Hs.506190			Genes and immunity. 1999 Nov;1(2):97-104			601268	1292	1	1999		Case:66; Control:304										
118596	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	3	3p21.3	CCR3	46180099	46283166	n	Kato H et al. 1999	11196669				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese		Tsuchiya N	1232	Hs.506190			Genes and immunity. 1999 Nov;1(2):97-104			601268	1293	1	1999		Case:145; Control:304										
118590	N	Asthma	IMMUNE	IMM	Asthma	3	3p21.3	CCR3	46180099	46283166	n	Unoki M 2000	10830912	T-520G			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2		Japan	KCB	1232	Hs.506190			Human genetics. 2000 Apr;106(4):440-6			601268	1287	1	2000												
118591	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21.3	CCR3	46180099	46283166	p < 0.01	Fukunaga K 2001	11307756	G824A			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese. British	Japan|Great Britain	KCB	1232	Hs.506190			The European respiratory journal. 2001 Jan;17(1):59-63	Genetic polymorphisms of CC chemokine receptor 3 in Japanese and British asthmatics.		601268	1288	1	2001	In conclusion, a significant association between asthma and CCR3 T51C polymorphism localized on chromosome 3p21 was found.	Case:142 Caucasian asthmatic hospital patients:England;Case:142 Caucasian asthmatics:Britain;Control:181 healthy, Japanese volunteers without a history of asthma recruited from the same area:Japan;Control:181 nonasthmatic controls:Japan;Case:210 Asian ast										
118592	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21.3	CCR3	46180099	46283166	P<0.02	Fukunaga K 2001	11307756	T51C			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2		Japan|Great Britain	KCB	1232	Hs.506190			The European respiratory journal. 2001 Jan;17(1):59-63	Genetic polymorphisms of CC chemokine receptor 3 in Japanese and British asthmatics.		601268	1289	1	2001	In conclusion, a significant association between asthma and CCR3 T51C polymorphism localized on chromosome 3p21 was found.	Case:142 Caucasian asthmatic hospital patients:England;Case:142 Caucasian asthmatics:Britain;Control:181 healthy, Japanese volunteers without a history of asthma recruited from the same area:Japan;Control:181 nonasthmatic controls:Japan;Case:210 Asian ast										
118586		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Sturgis, E. M.  et al. 2002	11981277				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		168461	20671	2	2002	Review article											
118588		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR1	46218203	46224836		Kantarci, O. H.  et al. 2005	16182378	Delta32ccr5			Chemokine (C-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001295.2			CDC GDPinfo	1230	Hs.301921			Journal of neuroimmunology. 2005 Dec;169(2-Jan):137-43	CCR5Delta32 polymorphism effects on CCR5 expression, patterns of immunopathology and disease course in multiple sclerosis.		601159	9214	2	2005												
118589		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR1	46218203	46224836			16323127				Chemokine (C-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001295.2			CDC GDPinfo	1230	Hs.301921			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		601159	20672	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
118583	Y	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	CCND1	69165053	69178423		Shu, X. O.  et al. 2005	15668481				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		China	CDC GDPinfo	595	Hs.523852			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):91-7	Association of cyclin D1 genotype with breast cancer risk and survival.		168461	15632	2	2005	This study suggests that CCND1 A870G polymorphism may modify the postmenopausal breast cancer risk associated with hormonal exposure and predict survival after breast cancer diagnosis.	Case:1,130 breast cancer cases who participated in the Shanghai Breast Cancer Study;Control:1,196 controls who participated in the Shanghai Breast Cancer Study										
118584		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Festa, F.  et al. 2005	15914210				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		168461	17782	2	2005												
118585		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Sadetzki, S.  et al. 2005	15824172				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		Israel	CDC GDPinfo	595	Hs.523852			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		168461	17960	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
118580	Y	pituitary cancer	CANCER	CAN	Adenoma|Prolactinoma|Pituitary Neoplasms|Recurrence	11	11q13	CCND1	69165053	69178423		Simpson, D. J.  et al. 2001	11698342				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2001 Nov;22(11):1801-7	Cyclin D1 (CCND1) genotype is associated with tumour grade in sporadic pituitary adenomas.		168461	15628	2	2001	No statistical significance was observed between CCND1 AG genotype and tumour grades. While the functional significance of the observed segregation of the CCND1 A/G polymorphism and tumour grade is unclear, our data suggest that CCND1 allele frequencies and genotype distributions show significant differences between tumour grades in sporadic pituitary adenomas. Since CCND1 genotype may be determined by analysis of peripheral blood samples it may provide a useful predictive marker for those tumours likely to show invasive behaviour. This may be clinically useful in indicating which tumours should receive adjunctive treatment (e.g. radiotherapy) immediately after surgical resection.	Control previously reported control population;Case:294 patients with sporadic pituitary adenomas of various histologies										
118581		upper aerodigestive tract cancer	CANCER	CAN	Mouth Neoplasms|Laryngeal Neoplasms|Disease Progression	11	11q13	CCND1	69165053	69178423		Izzo, J. G.  et al. 2003	12569141				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Journal of the National Cancer Institute. 2003 Feb;95(3):198-205	Cyclin D1 genotype, response to biochemoprevention, and progression rate to upper aerodigestive tract cancer		168461	15630	2	2003	 The cyclin D1 A allele was associated with a diminished modulation of normal physiologic and treatment-induced decreased expression of cyclin D1, a decreased likelihood of response to biochemopreventive intervention, and an increased rate of progression to cancer development, findings that require validation in a larger cohort.	Cohort 31 tissue biopsy samples from individuals with advanced preinvasive upper aerodigestive tract cancer 	13-cis-retinoic acid alpha-interferon alpha-tocopherol									
118582	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	11	11q13	CCND1	69165053	69178423		Wong, Y. K.  et al. 2003	12694349				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		Taiwan	CDC GDPinfo	595	Hs.523852			Journal of oral pathology & medicine. 2003 May;32(5):265-70	Cyclin D1 genotype in areca-associated oral squamous cell carcinoma.		168461	15631	2	2003	 This study demonstrates that the CCND1 genotype may confer different risks for BSCC and non-BSCC.	Case:70 oral squamous cell carcinoma patients;Control:93 control Taiwanese										
118577		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	CCND1	69165053	69178423		Ceschi, M.  et al. 2005	15845652				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Chinese	Singapore|China	CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2005 Aug;26(8):1457-64	The effect of cyclin D1 (CCND1) G870A-polymorphism on breast cancer risk is modified by oxidative stress among Chinese women in Singapore.		168461	10982	2	2005	The AA genotype did not affect breast cancer risk. The results of this study are compatible with the hypothesis that the oxidant-antioxidant balance in cells is an important determinant of the direction of the cyclin D1 effect, leading either to cell proliferation or cell death.	Case:258 breast cancer cases nested into the Singapore Chinese Health Study;Control:670 female cohort controls nested into the Singapore Chinese Health Study										
118578		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	11	11q13	CCND1	69165053	69178423		Xing, D.  et al. 2003	12883749				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Chinese	China	CDC GDPinfo	595	Hs.523852			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		168461	12996	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
118579	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q13	CCND1	69165053	69178423		Sanyal, S.  et al. 2003	14688016				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		168461	14798	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
118573		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423			16328437	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Indian		CDC GDPinfo	595	Hs.523852			Journal of cancer research and clinical oncology. 2006 Mar;132(3):193-9	Elevated risk of colorectal cancer associated with the AA genotype of the cyclin D1 A870G polymorphism in an Indian population		168461	9132	2	2005			diet									
118574		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms	11	11q13	CCND1	69165053	69178423			16399423	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Seminars in oncology. 2005 Dec;32(6 Suppl 9):S11-5	Impact of Cyclin D1 A870G Polymorphism in Esophageal Adenocarcinoma Tumorigenesis		168461	9133	2	2005												
118575		esophageal cancer; stomach cancer; Barret's esophagus	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Barrett Esophagus	11	11q13	CCND1	69165053	69178423		Geddert, H.  et al. 2005	16163549				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Journal of cancer research and clinical oncology. 2005 Dec;131(12):803-8	Polymorphism of p16 ( INK4A ) and cyclin D1 in adenocarcinomas of the upper gastrointestinal tract.		168461	9358	2	2005												
118576		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	11	11q13	CCND1	69165053	69178423			16343742				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		168461	10378	2	2005			smoking (tobacco)									
118570		esophageal cancer; Barrett esophagus; gastroesophageal reflux disease	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Precancerous Conditions|Barrett Esophagus|Gastroesophageal Reflux|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Casson, A. G.  et al. 2005	15971196	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Cancer. 2005 Aug;104(4):730-9	Cyclin D1 polymorphism (G870A) and risk for esophageal adenocarcinoma.		168461	9129	2	2005	 The CCND1 A/A genotype was associated with increased risk for gastroesophageal reflux disease, Barrett esophagus, and esophageal adenocarcinoma. The contribution of this polymorphism to susceptibility of defined stages of progression to esophageal adenocarcinoma suggested potential application in endoscopic Barrett surveillance programs.											
118571		leukemia, acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Hou, X.  et al. 2005	16207592				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Chinese	China	CDC GDPinfo	595	Hs.523852			International journal of hematology. 2005 Oct;82(3):206-9	Cyclin D1 gene polymorphism and susceptibility to childhood acute lymphoblastic leukemia in a Chinese population.		168461	9130	2	2005												
118572		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Rydzanicz, M.  et al. 2005	16258756				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			European archives of oto-rhino-laryngology. 2006 Jan;263(1):43-8	Cyclin D1 gene (CCND1) polymorphism and the risk of squamous cell carcinoma of the larynx.		168461	9131	2	2005												
118566	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Hong, Y.  et al. 2005	15862753	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Caucasian		CDC GDPinfo	595	Hs.523852			Eur J Cancer. 2005 May;41(7):1037-44	GG genotype of cyclin D1 G870A polymorphism is associated with increased risk and advanced colorectal cancer in patients in Singapore.		168461	9125	2	2005	Thus, contrary to Caucasians, the GG (rather than AA) genotype is associated with increased susceptibility and advanced CRC in Singapore patients, suggesting a more complex relationship between the SNP and CRC risk, possibly modulated by population differences.	Control:101:controls;Case:254 colorectal cancer cases:Singapore										
118567	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Kang, S.  et al. 2005	15863141				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Gynecologic oncology. 2005 May;97(2):431-5	Cyclin D1 polymorphism and the risk of endometrial cancer.		168461	9126	2	2005	 Our data suggest that the CCND1 polymorphism is associated with an increased risk of endometrial cancer. To validate this association, a large-scale population-based study is needed.	Control:154 matched controls;Case:77 Korean hospital-based endometrial cancer cases										
118568	N	cervical cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Jeon, Y. T.  et al. 2005	15896460	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Korean	Korea	CDC GDPinfo	595	Hs.523852			Cancer letters. 2005 Jun;223(2):259-63	Cyclin D1 G870A polymorphism and squamous cell carcinoma of the uterine cervix in Korean women.		168461	9127	2	2005	Our findings suggest that the CCND1 polymorphism is not associated with an increased risk of squamous cell carcinoma of uterine cervix in Korean women.	Case:222 patients with squamous cell carcinoma or uterine:cervix:Korea;Control:314 normal controls										
118563	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Yu, J.  et al. 2004	15538282				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			The Journal of urology. 2004 Dec;172(6, Part 1 of 2):2410-2413	ASSOCIATION OF THE CYCLIN D1 GENE G870A POLYMORPHISM WITH SUSCEPTIBILITY TO SPORADIC RENAL CELL CARCINOMA.		168461	9122	2	2004	: These data suggest that the CCND1 variant A allele may be a genetic susceptibility factor with a recessive or gene dose effect for the onset of sporadic RCC. More extensive and larger studies are required to clarify whether the CCND1 genotype is more specifically involved in the onset of a histological subset of RCC or RCC at a younger age.	Case:191 renal cell carinoma patients;Control:400:controls										
118564	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Holley, S. L.  et al. 2005	15695117				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Oral oncology. 2005 Feb;41(2):156-60	Association of cyclin D1 polymorphism with increased susceptibility to oral squamous cell carcinoma.		168461	9123	2	2005	Our data suggests that the CCND1 GG(870) genotype is associated with increased susceptibility to OSCC. The involvement of cyclin D1 polymorphism in mechanisms of SCC development may differ in the different sub-sites of the head and neck.	Control:155:controls;Case:174 German patients with oral squamous cell carcinoma										
118565	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms	11	11q13	CCND1	69165053	69178423		Buch, S.  et al. 2005	15754315				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Molecular carcinogenesis. 2005 Apr;42(4):222-8	Association of polymorphisms in the cyclin D1 and XPD genes and susceptibility to cancers of the upper aero-digestive tract.		168461	9124	2	2005	This is the first study to suggest an associative interaction between XPD and CCND1 genetic polymorphisms, tobacco exposure, and cancer risk.	Control:269:controls;Case:273 upper aero-digestive tract cancer cases	smoking (tobacco)									
118560		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Lymphocytic, Chronic|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Klinkov, A. A.  et al. 2004	15225161				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Annals of human genetics. 2004 Jul;68(Pt 4):362-6	TNR/11q#1 Trinucleotide (GCC)n Repeat Alleles and Predisposition to Acute and Chronic Leukemia		168461	9119	2	2004	Association of certain alleles and genotypes of the TNR/11q#1 repeat with both acute and chronic lymphocytic leukemia suggests the presence of a cancer related gene, involved in a wide spectrum of neoplasia, in the vicinity of this repeat.	Case:113/82 acute lymphotic leukemia (n=113) and chronic lymphocytic leukemia (n=82) patients;Control:146 healthy controls of Russian origin										
118561	Y	bladder cancer	CANCER	CAN	Carcinoma in Situ|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Disease Progression|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Ito, M.  et al. 2004	15245939				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Urology. 2004 Jul;64(1):74-8	Polymorphism within the cyclin D1 gene is associated with an increased risk of carcinoma in situ in patients with superficial bladder cancer.		168461	9120	2	2004	 Although CCND1 polymorphism is not able to serve as a prognostic marker for bladder cancer, the CCND1 variant A allele may recessively increase the risk of carcinoma in situ incidence in patients with superficial bladder cancer.	Cohort patients with superficial bladder cancer 										
118562		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms|Disease Progression	11	11q13	CCND1	69165053	69178423		Monteiro, E.  et al. 2004	15350626	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Cancer detection and prevention. 2004 ;28(4):237-43	Cyclin D1 A870G polymorphism and amplification in laryngeal squamous cell carcinoma: implications oftumor localization and tobacco exposure		168461	9121	2	2004	Our data on gene amplification did not show any correlation with disease stage, histological tumor differentiation, recurrent disease, disease-specific survival or tumor location. However, GG870 genotype was associated with a shorter disease free interval and a reduced overall survival in laryngeal cancer patients. Moreover, this constitutes the first report of a correlation between cyclin D1 A870G polymorphism and increased susceptibility for laryngeal tumor development at the glottic region, which supports the theory of site-specific prevalence of genetic alterations.	Control:110 healthy individuals;Case:66 larynx cancer patients	smoking (tobacco)									
118557		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Koike, H.  et al. 2003	14981950				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Japanese		CDC GDPinfo	595	Hs.523852			Anticancer research. 2003 Nov-Dec;23(6D):4947-51	Cyclin D1 gene polymorphism and familial prostate cancer: the AA genotype of A870G polymorphism isassociated with prostate cancer risk in men aged 70 years or older and metastatic stage.		168461	9116	2	2003	 The present study suggested that the genetic polymorphism might be associated with familial prostate cancer risk in a Japanese population.	Control:115 noncancer controls;Case:99 Japanese familial prostate cancer cases										
118558	Y	gastroesophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Hypopharyngeal Neoplasms|Oropharyngeal Neoplasms	11	11q13	CCND1	69165053	69178423		Nishimoto, I. N.  et al. 2004	15063389				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Oral oncology. 2004 Jul;40(6):604-10	Cyclin D1 gene polymorphism as a risk factor for squamous cell carcinoma of the upper aerodigestive system in non-alcoholics.		168461	9117	2	2004	These results suggest that allele A may be a risk factor for UADT cancer, especially in non-alcoholics. However, further epidemiological studies are needed to establish the exact role of CCND1 polymorphism and the development of UADT cancers.	Control:135 non-cancer subjects:non;Case:147 upper aerodigestive tract cancer										
118559	Y	liver cancer	CANCER	CAN	Hepatoblastoma|Liver Neoplasms	11	11q13	CCND1	69165053	69178423		Pakakasama, S.  et al. 2004	15133490				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Oncogene. 2004 Jun;23(27):4789-92	CCND1 polymorphism and age of onset of hepatoblastoma.		168461	9118	2	2004	These findings suggest that the CCND1 A polymorphism may contribute to tumor development in children with hepatoblastoma.	Cohort 84 chidlren with hepatoblastoma 										
118554	N	breast cancer; colorectal cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Grieu, F.  et al. 2003	14666635	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Anticancer research. 2003 Sep-Oct;23(5b):4257-9	Lack of association between CCND1 G870A polymorphism and the risk of breast and colorectal cancers.		168461	9113	2	2003	 Although the CCND1 G870A polymorphism has been reported as a genetic risk factor for some tumour types, it does not appear to be linked to the risk of breast and colorectal cancers.	Control:327 age-matched controls;Case:569/339 colorectal cancer (n=569) and breast cancer (n=339):cases										
118555	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Lewis, R. C.  et al. 2003	14679024				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Cancer research. 2003 Dec;63(23):8549-53	Polymorphism of the cyclin D1 gene, CCND1, and risk for incident sporadic colorectal adenomas.		168461	9114	2	2003	These data support the hypothesis that the CCND1 A870G polymorphism may increase risk for colorectal neoplasms.	Case:161 incident sporadic adenoma cases ages 30-74 years in a North Carolina colonoscopy-based case-control:study;Control:213 controls ages 30-74 years in a North Carolina colonoscopy-based case-control study	alcohol smoking (tobacco)									
118556	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Krippl, P.  et al. 2003	14703063	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Breast cancer research and treatment. 2003 Dec;82(3):165-8	The 870G>A polymorphism of the cyclin D1 gene is not associated with breast cancer		168461	9115	2	2003	We conclude that  the CCND1 870G > A polymorphism is not associated with breast cancer.	Case:500 breast cancer patients;Control:500:controls										
118551	Y	esophageal cancer; cardiac cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang, R.  et al. 2003	12899785	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Chinese		CDC GDPinfo	595	Hs.523852			Zhonghua yi xue za zhi. 2003 Jun;83(12):1089-92	[The association of cyclin D1 (A870G) polymorphism with susceptibility to esophageal and cardiac cancer in north Chinese population]		168461	9110	2	2003	 In northern Chinese population, the smoking individuals carrying Cyclin D1 (A870G) A/A genotype increase the susceptibility to esophageal and cardiac cancer. The G/G genotype probably plays a protecting role in the occurrence of esophageal cancer.	Control:122 healthy controls;Case:178 patients with esophageal or esophageal -gastric junction carcinoma (120 with esophageal squamous cell cancer and 58 with cardiac adenoma cancer) northern China										
118552		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	11	11q13	CCND1	69165053	69178423		Costea, I.  et al. 2003	12972956	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		France	CDC GDPinfo	595	Hs.523852			Pharmacogenetics. 2003 Sep;13(9):577-80	The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia.		168461	9111	2	2003	A significant result is retained in the presence of other prognostic factors. This impact is even more apparent in individuals who are also homozygous for thymidylate synthase (TS) triple repeat (P < 0.00005), which has previously been shown to influence the outcome of childhood ALL.	Cohort children with acute lymphoblastic leukemia 										
118553	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	CCND1	69165053	69178423		Le Marchand, L.  et al. 2003	14657069	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		Hawaii	CDC GDPinfo	595	Hs.523852			JAMA. 2003 Dec;290(21):2843-8	Association of the cyclin D1 A870G polymorphism with advanced colorectal cancer.		168461	9112	2	2003	 The CCND1 870A allele may be associated with colorectal cancer, and particularly with forms of the disease that result in severe morbidity and mortality.	Case:504 patients with incident colorectal cancer:Hawaii Jan 1, 1994, and Aug 31, 1998;Control:624 population-based participants of Japanese, white, or Native Hawaiian origin										
118548	N	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Yu, C.  et al. 2003	12582032	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		China	CDC GDPinfo	595	Hs.523852			Cancer epidemiology, biomarkers & prevention. 2003 Feb;12(2):176	Lack of association between CCND1 G870A polymorphism and risk of esophageal squamous cell carcinoma.		168461	9107	2	2003	Therefore, the results of this study highlight the need for additional studies on polygene analysis	Case:321 Chinese consecutive esophageal cancer patients:Beiging;Control:345 age and gender matched controls	smoking (tobacco)									
118549	Y	esophageal cancer; gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Zhang, J.  et al. 2003	12673692	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Chinese		CDC GDPinfo	595	Hs.523852			International journal of cancer. Journal international du cancer. 2003 Jun;105(2):281-4	Association of cyclin D1 (G870A) polymorphism with susceptibility to esophageal and gastric cardiac carcinoma in a northern Chinese population.		168461	9108	2	2003	Determination of the cyclin D1 (G870A) single nucleotide polymorphism may be suitable to identify individuals with increased risk for ESCC or CAC in the northern Chinese population.	Case:120/87 patients with esophageal squamous cell carcinoma (n=120) and with gastric cardiac adenocarcinoma:(n=87) northern Chinese;Control:183 age- and gender-matched controls	smoking (tobacco)									
118550	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Cortessis, V.  et al. 2003	12896908	G870A			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2003 Oct;24(10):1645-50	A case-control study of cyclin D1 CCND1 870A>G polymorphism and bladder cancer		168461	9109	2	2003	No association between the A/A genotype and risk was observed (OR=0.90, 95% confidence interval 0.60-1.33). The null association was not appreciably modified by bladder cancer risk factors, including lifetime smoking history, or by histopathologic classification.	Case bladder cancer patients Los Angeles County, CA	smoking (tobacco)									
118545	N	hyperparathyroidism	METABOLIC	MET	Hyperparathyroidism	11	11q13	CCND1	69165053	69178423		Correa, P.  et al. 2001	11902820				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Journal of internal medicine. 2001 Dec;250(6):516-20	The NeiI polymorphism in the cyclin D1 gene and sporadic primary hyperparathyroidism.		168461	9104	2	2001	 No significant differences in distribution of the genotypes could be detected between the groups, suggesting that the polymorphism has minor or no pathogenic importance in the development of pHPT. Our results suggest that determination of the NciI polymorphism in the cyclin D1 gene is not a clinically useful tool for prediction of pHPT.	Case patients with primary hyperparathyroidism;Control matched controls										
118546	Y	colorectal cancer, nonpolyposis	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Deng, L.  et al. 2002	11958128				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica. 2002 Jan;34(1):16-20	Cyclin D1 polymorphism and the susceptibility to NPC using DHPLC.		168461	9105	2	2002	These suggest that the A/G polymorphism of CCND1 was associated with the susceptibility to NPC, and the GG and AG genotypes in NPC patients were significantly higher than those in normal controls.	Case:84 nonpolyposis colorectal cancer patients;Control:91 normal controls										
118547	Y	prostatic hyperplasia; prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang, L.  et al. 2003	12455063				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Japanese		CDC GDPinfo	595	Hs.523852			International journal of cancer. Journal international du cancer. 2003 Jan;103(1):116-20	Increased risk of prostate cancer associated with AA genotype of cyclin D1 gene A870G polymorphism.		168461	9106	2	2003	The A allele of the CCND1 A870G polymorphism was recessively associated with susceptibility to PCa and BPH in a Japanese population, giving a 2-fold increased risk of PCa and BPH in men with the AA genotype compared to those with the GG genotype. Although the risk of PCa associated with the AA genotype appeared to contribute especially to men aged 73 years or younger and the A allele may be associated with disease status of PCa, these conjectures require validation in future studies on a larger number of subjects.	Case:214 Japanese prostate cancer cases;Control:234/254 benign prostatic hyperplasia cases (n=234) and male:controls (n=254)										
118542		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	11	11q13	CCND1	69165053	69178423		Zhang, Y. J.  et al. 2002	11813305				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Molecular carcinogenesis. 2002 Feb;33(2):125-9	Polymorphisms in cyclin D1 gene and hepatocellular carcinoma.		168461	9101	2	2002	The A870G polymorphism in CCND1 may influence differentiation and prognosis in HCC patients but requires further study.	Control:35 control subjects not otherwise specified in:abstract;Case:97 Taiwanese HCC patients										
118543	Y	bladder cancer, urinary	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang, L.  et al. 2002	11872630				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2002 Feb;23(2):257-64	Cyclin D1 gene polymorphism is associated with an increased risk of urinary bladder cancer.		168461	9102	2	2002	These data suggest that the CCND1 variant A allele may be associated with an increased risk of TCC of the bladder, especially in men without a history of smoking, and it may also have an effect on its disease status.	Case:222 cases of urinary bladder cancer;Control:317 native Japanese controls	smoking (tobacco)									
118544		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Porter, T. R.  et al. 2002	11896626				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Oncogene. 2002 Mar;21(12):1928-33	Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer.		168461	9103	2	2002	No significant differences between the frequency of CDH1 -160A/C genotypes in familial, sporadic colorectal cancer cases and controls were seen, although a possible association between the low expressing A allele and right-sided tumours was detected in familial cases.	Control:171 controls not otherwise specified in abstract;Case:206 familial cases of colorectal cancer										
118538		lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Qiuling S 2003	12807740				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	chinese	China	KGB	595	Hs.523852			Carcinogenesis. 2003 Sep;24(9):1499-503	Cyclin D1 gene polymorphism and susceptibility to lung cancer in a Chinese population.		168461	950	1	2003												
118540	Y	squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	11	11q13	CCND1	69165053	69178423		Zheng, Y.  et al. 2001	11470749				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Carcinogenesis. 2001 Aug;22(8):1195-9	Cyclin D1 polymorphism and risk for squamous cell carcinoma of the head and neck: a case-controlstudy		168461	9099	2	2001	These results suggest that the CCND1 polymorphism is associated with early onset of SCCHN and contributes to susceptibility to SCCHN in this population.	Case:233 newly diagnosed squamous cell carcinoma of the head and neck cases;Control:248 non-cancer controls										
118541	Y	squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	11	11q13	CCND1	69165053	69178423		Holley, S. L.  et al. 2001	11696452				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			The American journal of pathology. 2001 Nov;159(5):1917-24	Cyclin D1 Polymorphism and Expression in Patients with Squamous Cell Carcinoma of the Head and Neck		168461	9100	2	2001	In summary, our data show that the two CCND1 polymorphic sites are independently associated with tumor biology and clinical outcome. CCND1 A/G(870) alleles affect gene expression in head and neck tissues. We also provide preliminary evidence that the molecular genetics of SCCHN development may be influenced by patient gender.	Cohort squamous cell carcinoma of the head and neck patients 										
118535	N	breast and colorectal cancers.	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423	n	Grieu F 2003	14666635				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Anticancer research. 2003 Sep-Oct;23(5b):4257-9	Lack of association between CCND1 G870A polymorphism and the risk of breast and colorectal cancers.		168461	947	1	2003	 Although the CCND1 G870A polymorphism has been reported as a genetic risk factor for some tumour types, it does not appear to be linked to the risk of breast and colorectal cancers.	Control:327 age-matched controls;Case:569/339 colorectal cancer (n=569) and breast cancer (n=339):cases										
118536		bladder cancer.	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Cortessis VK 2003	12896908				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Carcinogenesis. 2003 Oct;24(10):1645-50	A case-control study of cyclin D1 CCND1 870A-->G polymorphism and bladder cancer.		168461	948	1	2003	No association between the A/A genotype and risk was observed (OR=0.90, 95% confidence interval 0.60-1.33). The null association was not appreciably modified by bladder cancer risk factors, including lifetime smoking history, or by histopathologic classification.	Case bladder cancer patients Los Angeles County, CA	smoking (tobacco)									
118537	Y	advanced colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	CCND1	69165053	69178423		Le Marchand L 2003	14657069				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		Hawaii	KGB	595	Hs.523852			JAMA. 2003 Dec;290(21):2843-8	Association of the cyclin D1 A870G polymorphism with advanced colorectal cancer.		168461	949	1	2003	 The CCND1 870A allele may be associated with colorectal cancer, and particularly with forms of the disease that result in severe morbidity and mortality.	Case:504 patients with incident colorectal cancer:Hawaii Jan 1, 1994, and Aug 31, 1998;Control:624 population-based participants of Japanese, white, or Native Hawaiian origin										
118532	Y	laryngeal squamous cell carcinoma	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Laryngeal Neoplasms	11	11q13	CCND1	69165053	69178423		Cattani P et al. 1998	9829720				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Clinical cancer research. 1998 Nov;4(11):2585-9	Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma.		168461	944	1	1998												
118533	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang L et al. 2003	12455063				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			International journal of cancer. Journal international du cancer. 2003 Jan;103(1):116-20	Increased risk of prostate cancer associated with AA genotype of cyclin D1 gene A870G polymorphism.		168461	945	1	2003	The A allele of the CCND1 A870G polymorphism was recessively associated with susceptibility to PCa and BPH in a Japanese population, giving a 2-fold increased risk of PCa and BPH in men with the AA genotype compared to those with the GG genotype. Although the risk of PCa associated with the AA genotype appeared to contribute especially to men aged 73 years or younger and the A allele may be associated with disease status of PCa, these conjectures require validation in future studies on a larger number of subjects.	Case:214 Japanese prostate cancer cases;Control:234/254 benign prostatic hyperplasia cases (n=234) and male:controls (n=254)										
118534	Y	urinary bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang L et al. 2002	11872630				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Carcinogenesis. 2002 Feb;23(2):257-64	Cyclin D1 gene polymorphism is associated with an increased risk of urinary bladder cancer.		168461	946	1	2002	These data suggest that the CCND1 variant A allele may be associated with an increased risk of TCC of the bladder, especially in men without a history of smoking, and it may also have an effect on its disease status.	Case:222 cases of urinary bladder cancer;Control:317 native Japanese controls	smoking (tobacco)									
118529		intracranial cavernous malformations	CARDIOVASCULAR	CARD	Hemangioma, Cavernous, Central Nervous System	7	7q21-q22	KRIT1	91666218	91713350			16321204				KRIT1, ankyrin repeat containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_194456.1	Chinese		CDC GDPinfo	889	Hs.531987			Zhonghua yi xue za zhi. 2005 Aug;85(32):2254-8	[Analysis of CCM1 gene mutations in Chinese patients with intracranial cavernous malformations]		604214	17967	2	2005	 As the genetic basis of ICM, CCM1 gene mutation exists in Chinese ICM patients too, that leads to functional loss or changes of the gene encoding KRIT1 protein.											
118530	Y	tumour grade	CANCER	CAN	Adenoma|Prolactinoma|Pituitary Neoplasms|Recurrence	11	11q13	CCND1	69165053	69178423		Simpson DJ et al. 2001	11698342				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Carcinogenesis. 2001 Nov;22(11):1801-7	Cyclin D1 (CCND1) genotype is associated with tumour grade in sporadic pituitary adenomas.		168461	942	1	2001	No statistical significance was observed between CCND1 AG genotype and tumour grades. While the functional significance of the observed segregation of the CCND1 A/G polymorphism and tumour grade is unclear, our data suggest that CCND1 allele frequencies and genotype distributions show significant differences between tumour grades in sporadic pituitary adenomas. Since CCND1 genotype may be determined by analysis of peripheral blood samples it may provide a useful predictive marker for those tumours likely to show invasive behaviour. This may be clinically useful in indicating which tumours should receive adjunctive treatment (e.g. radiotherapy) immediately after surgical resection.	Control previously reported control population;Case:294 patients with sporadic pituitary adenomas of various histologies										
118531	Y	squamous cell carcinoma of the head and neck	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasm Recurrence, Local	11	11q13	CCND1	69165053	69178423		Matthias C et al. 1998	9796972				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			KGB	595	Hs.523852			Clinical cancer research. 1998 Oct;4(10):2411-8	Polymorphism within the cyclin D1 gene is associated with prognosis in patients with squamous cell carcinoma of the head and neck.		168461	943	1	1998												
118525		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	17	17q11.2	CCL8	29670178	29672534		Park, B. L.  et al. 2004	15607028				Chemokine (C-C motif) ligand 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005623.2	Korean	Korea	CDC GDPinfo	6355	Hs.271387			Journal of biochemistry and molecular biology. 2004 Nov;37(6):691-9	Association of interleukin 10 haplotype with low bone mineral density in Korean postmenopausal women		602283	20670	2	2004	Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.	Cohort 370 Korean postmenopausal women 										
118527		cerebral cavernous malformations	CARDIOVASCULAR	CARD	Hemangioma, Cavernous, Central Nervous System|Cerebral Hemorrhage|Seizures	7	7q21-q22	KRIT1	91666218	91713350		Denier C 2004	14755725				KRIT1, ankyrin repeat containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_194456.1			KGB	889	Hs.531987			Annals of neurology. 2004 Feb;55(2):213-20	Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.		604214	1101	1	2004												
118528		cerebrovascular disease	CARDIOVASCULAR	CARD	Hemangioma, Cavernous, Central Nervous System	7	7q21-q22	KRIT1	91666218	91713350		Verlaan, D. J.  et al. 2004	15079030				KRIT1, ankyrin repeat containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_194456.1		Germany|Switzerland	CDC GDPinfo	889	Hs.531987			Neurology. 2004 Apr;62(7):1213-5	CCM1 mutation screen of sporadic cases with cerebral cavernous malformations		604214	17966	2	2004	Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.	Cohort 35 sporadic cases with either single or multiple cerebral cavernous malformations 										
118522		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q11.2-q12	CCL7	29621352	29623369		Nelissen, I.  et al. 2002	12127674				Chemokine (C-C motif) ligand 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006273.2	Swedish	Belgium	CDC GDPinfo	6354	Hs.251526			Journal of the neurological sciences. 2002 Aug;200(2-Jan):43-8	Gelatinase B, PECAM-1 and MCP-3 gene polymorphisms in Belgian multiple sclerosis.		158106	9097	2	2002	These results are in agreement with previous findings in the Swedish and Sardinian populations and reinforce the possibility of a role for chemokines in MS pathogenesis.	Control:193 normal controls;Case:216 Belgian clinically definite MS patients										
118523		asthma	IMMUNE	IMM	Asthma	17	17q11.2-q12	CCL7	29621352	29623369		Park, B. L.  et al. 2005	15715950				Chemokine (C-C motif) ligand 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006273.2			CDC GDPinfo	6354	Hs.251526			Journal of biochemistry and molecular biology. 2005 Jan;38(1):77-81	Association analysis of monocyte chemotactic protein-3 (MCP3) polymorphisms with asthmatic phenotypes.		158106	9098	2	2005	In conclusion, we identified four genetic polymorphisms in the important MCP3 gene, but no significant associations of MCP3 variants with asthma phenotypes were detected. MCP3 variation/haplotype information identified in this study will provide valuable information for future association studies of other allergic diseases.	Cohort 598 Korean individuals 										
118524		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q12	CCL7	29621352	29623369		Modi, W. S.  et al. 2003	14571188				Chemokine (C-C motif) ligand 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006273.2			CDC GDPinfo	6354	Hs.251526			AIDS (London, England). 2003 Nov;17(16):2357-65	MCP-1-MCP-3-Eotaxin gene cluster influences HIV-1 transmission.		158106	24109	2	2003	 Although the extensive linkage disequilibrium precludes positive identification of the causal variant, the results suggest that genetic variation in the H7 region influences susceptibility to HIV-1 infection. Since these chemokines do not bind the primary HIV-1 coreceptors CCR5 or CXCR4, the observed influence on transmission may result from activation of the immune system in response to infection rather than receptor blockage.	Cohort 3,000+ participants enrolled in five natural history cohorts US 										
118519		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Simeoni, E.  et al. 2004	15302103				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			European heart journal. 2004 Aug;25(16):1438-46	Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis.		187011	20667	2	2004	 RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers. The association was enhanced in smokers and ACS, conditions where platelet activation and inflammation predominate. RANTES A-403 may increase genetic susceptibility to CAD.	Case coronary artery disease patients from the LUdwigshafen Risk and Cardiovascular health (LURIC):cohort;Control controls from the LUdwigshafen Risk and Cardiovascular health (LURIC) cohort										
118520		kidney transplant	IMMUNE	IMM		17	17q11.2-q12	CCL5	31222608	31231490		Lacha, J.  et al. 2005	15848524				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		187011	20668	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
118521		celiac disease	IMMUNE	IMM	Celiac Disease	17	17q11.2-q12	CCL5	31222608	31231490		Rueda, B.  et al. 2005	16078996				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		187011	20669	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
118516		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Szalai, C.  et al. 2001	11500196				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Atherosclerosis. 2001 Sep;158(1):233-9	Involvement of polymorphisms in the chemokine system in the susceptibility for coronary artery disease (CAD). Coincidence of elevated Lp(a) and MCP-1 -2518 G/G genotype in CAD patients.		187011	20664	2	2001	The MCP-1 -2518G variant in homozygous form appears as a genetic risk factor for severe CAD. This genotype is associated with elevated Lp(a) levels in patients. Individuals homozygous for CCR2-64I or CCR5Delta32 mutations are at reduced risk for severe CAD.	Case:318 patients with coronary artery disease (CAD) referred to coronary bypass surgery;Control:320 healthy controls										
118517		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Huerta, C.  et al. 2004	15488313				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Neuroscience letters. 2004 Nov;370(3-Feb):151-4	Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.		187011	20665	2	2004	We conclude that  the four DNA polymorphisms, which have been associated with several immuno-modulated diseases, did not contribute to the risk of PD or LOAD.	Case:200/326 patients with Parkinson's disease (n=200) and late-onset Alzheimer's disease (n=326);Control:370 healthy controls										
118518		liver transplant	OTHER	OTH		17	17q11.2-q12	CCL5	31222608	31231490		Schroppel, B.  et al. 2002	12462338				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Journal of clinical immunology. 2002 Nov;22(6):381-5	Analysis of gene polymorphisms in the regulatory region of MCP-1, RANTES, and CCR5 in liver transplant recipients.		187011	20666	2	2002	In conclusion, variants of RANTES-28, MCP-1 -2518, and CCR5-59029 neither influenced the incidence of acute rejection nor affected long-term allograft survival upon liver transplantation in the context of this analysis.	Cohort 209 liver transplant recipients 										
118513		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Liao, C. H.  et al. 2004	15468376				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	China	CDC GDPinfo	6352	Hs.514821			The Journal of rheumatology. 2004 Oct;31(10):2062-7	Polymorphisms in the promoter region of RANTES and the regulatory region of monocyte chemoattractant protein-1 among Chinese children with systemic lupus erythematosus.		187011	20661	2	2004	 In the Chinese population, children with RANTES -28C/G polymorphisms have increased risk of developing SLE. Healthy controls with the C/G or G/G genotype were 2.37 times more likely to have SLE compared to those with the C/C genotype.	Control:107 healthy children of comparable ages;Case:46 Chinese patients with systemic lupus erythematosus										
118514		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	17	17q11.2-q12	CCL5	31222608	31231490		Hellier, S.  et al. 2003	14647058				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		187011	20662	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
118515		lupus erythematosus	IMMUNE	IMM	Arthritis|Lupus Erythematosus, Systemic	17	17q11.2-q12	CCL5	31222608	31231490		Ye, D. Q.  et al. 2004	15611878				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese		CDC GDPinfo	6352	Hs.514821			Archives of dermatological research. 2005 Feb;296(8):366-71	The correlation between monocyte chemoattractant protein-1 and the arthritis of systemic lupus erythematosus among Chinese		187011	20663	2	2004	The results indicate an association between the presence of G at position -2518 in the MCP-1 promoter region and the presence of arthritis in patients with SLE.	Case:142 Chinese patients with systemic lupus erythematosus;Control:157 healthy controls										
118510		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490			16323127				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		187011	17739	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
118511		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Szalai, C.  et al. 2001	11544456				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Hungary	CDC GDPinfo	6352	Hs.514821			The Journal of allergy and clinical immunology. 2001 Sep;108(3):375-81	Polymorphism in the gene regulatory region of MCP-1 is associated with asthma susceptibility and severity.		187011	20659	2	2001	 In this cohort of children, there are associations between carrying G at -2518 of the MCP-1 gene regulatory region and the presence of asthma as well as between asthma severity and homozygosity for the G allele. In asthmatic children, the MCP-1 -2518G polymorphism correlated with increased eosinophil levels. This variant of MCP-1 might belong to the predictor gene set for asthma.	Case:151 children with nonasthmatic but allergic phenotype;Case:160 children with asthma;Control:303 children without allergic or asthmatic disorders										
118512		Behcet's disease; retinal vasculitis; uveitis	IMMUNE	IMM	Behcet Syndrome|Retinal Vasculitis|Uveitis|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Chen, Y.  et al. 2004	14651522				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Tissue antigens. 2004 Jan;63(1):41-5	Chemokine gene polymorphisms associate with gender in patients with uveitis.		187011	20660	2	2004	Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved.	Cohort patients with Behcet's disease, and with retinal vasculitis 										
118507		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Zhou, Y.  et al. 2003	12858455				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			The Journal of rheumatology. 2003 Jul;30(7):1541-7	Relative importance of CCR5 and antineutrophil cytoplasmic antibodies in patients with Wegener's granulomatosis.		187011	15653	2	2003	 CCR5 and its ligands are abundantly present in pulmonary lesions in WG. The absence of a genetic deletion for CCR5 (CCR5 Delta32) in WG patients lacking ANCA suggests that CCR5 may exert a particularly important pathogenetic role in those patients. Another subset of patients (approximately 20%) with WG possessed a genetic deletion for CCR5. That each of these patients was ANCA positive implies that an alternative pathway to CCR5 may exist, for which ANCA may be especially important.	Case:118 Caucasian patients with Wegener's granulomatosis;Control:127 ethnically matched healthy controls										
118508		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Substance-Related Disorders|Substance Abuse, Intravenous|Disease Progression	17	17q11.2-q12	CCL5	31222608	31231490		Duggal, P.  et al. 2005	15793370				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	African American	United States	CDC GDPinfo	6352	Hs.514821			Journal of acquired immune deficiency syndromes (1999). 2005 Apr;38(5):584-9	The effect of RANTES chemokine genetic variants on early HIV-1 plasma RNA among African American injection drug users.		187011	15667	2	2005	Genetic variants in RANTES may downregulate RANTES gene expression and increase early HIV-1 plasma RNA. Because RANTES is a critical chemokine and competitively inhibits HIV-1 by binding to its receptor CCR5, treatment to enhance RANTES expression may assist in delaying the progression of AIDS by decreasing the initial viral load.	Cohort 198 seroincident injection drug users followed in the AIDS Link to Intravenous Experience cohort 										
118509		hepatitis C	INFECTION	INF	Hepatitis C	17	17q11.2-q12	CCL5	31222608	31231490		Goulding, C.  et al. 2005	15863470	CCR5-DDelta32			Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Gut. 2005 Aug;54(8):1157-61	The CCR5-delta32 mutation: impact on diseaseoutcome in individuals with hepatitis C infection from a single source.		187011	15669	2	2005	 Heterozygosity for CCR5delta32 was shown to be significantly associated with spontaneous hepatitis C viral clearance and with significantly lower hepatic inflammatory scores in subgroups within this cohort. Both controls and the HCV population had similar heterozygosity frequencies.	Cohort 283 women, all exposed to HCV genotype 1b from a single donor, and including those who had spontaneously cleared the virus and those chronically infected 										
118504		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Gade-Andavolu, R.  et al. 2004	15471370				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):536-9	RANTES: a genetic risk marker for multiplesclerosis.		187011	15625	2	2004	 There is a significant but complex association of the RANTES gene with MS.	Case:140 postmortem brain samples from subjects with a primary diagnois of multiple sclerosis;Control:216 control subjects										
118505		giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Amoli, M. M.  et al. 2005	15742444				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Spain	CDC GDPinfo	6352	Hs.514821			The Journal of rheumatology. 2005 Mar;32(3):507-10	MCP-1 gene haplotype association in biopsy proven giant cell arteritis.		187011	15626	2	2005	 Significant differences in haplotype frequencies between GCA patients and controls may indicate a role for MCP-1 gene in susceptibility to GCA.	Case:79 giant cell arteritis patients Northwest Spain;Control:99 ethnically matched controls										
118506	Y	nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Nakajima, K.  et al. 2003	12610055			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Japan	CDC GDPinfo	6352	Hs.514821			Diabetes care. 2003 Mar;26(3):892-8	RANTES promoter genotype is associated with diabetic nephropathy in type 2 diabetic subjects.		187011	15652	2	2003	 The RANTES promoter -28G genotype and CCR5 promoter 59029A genotype may be independent risk factors for diabetic nephropathy in patients with type 2 diabetes and may have an additive effect on nephropathy.	Cohort 616 Japanese subjects with type 2 diabetes 		RANTES promoter	28G	CCR5 promoter	59029A			Y		diabetic nephropathy in type 2 diabetes
118501		HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression	17	17q11.2-q12	CCL5	31222608	31231490		An, P.  et al. 2002	12114533				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Proceedings of the National Academy of Sciences of the United States of America. 2002 Jul;99(15):10002-7	Modulating influence on HIV/AIDS by interacting RANTES gene variants.		187011	15622	2	2002	The diminished transcription of RANTES afforded by the In1.1C regulatory allele is consistent with increased HIV-1 spread in vivo, leading to accelerated progression to AIDS.	Cohort five AIDS cohorts 										
118502		endometriosis	REPRODUCTION	REP	Endometriosis	17	17q11.2-q12	CCL5	31222608	31231490		Antinolo, G.  et al. 2003	12837926			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Spanish	Spain	CDC GDPinfo	6352	Hs.514821			Molecular human reproduction. 2003 Aug;9(8):491-5	Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.		187011	15623	2	2003	These data are consistent with the lack of association between these polymorphisms and endometriosis in our population. They do not exclude completely a possible role of other variants within RANTES gene in this pathology.	Case a cohort of Spanish women with endometriosis:Spain;Control:controls										
118503		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	17	17q11.2-q12	CCL5	31222608	31231490		Wasmuth, H. E.  et al. 2004	15368437				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Hepatology (Baltimore, Md). 2004 Aug;40(2):327-34	Haplotype-tagging RANTES gene variants influence response to antiviral therapy in chronic hepatitis C.		187011	15624	2	2004	In conclusion, RANTES haplotypes might contribute to the polygenic interaction between HCV and the host immune system and could help to risk stratify patients prior to antiviral therapy.	Control:152 control subjects;Case:297 Caucasian patients who were treated for chronic HCV:infection										
118498		heart transplant complications	OTHER	OTH	Acute Disease	17	17q11.2-q12	CCL5	31222608	31231490			16314800				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Transplantation. 2005 Nov;80(9):1309-15	CCR5, RANTES and CX3CR1 Polymorphisms: PossibleGenetic Links with Acute Heart Rejection		187011	9219	2	2005	 This exploratory study in heart transplantation suggests that the outcomes of EAR and LAR episodes may be influenced by genetic variant interactions such as CX3CR1 249I*CCR5 No-E and CCR5 E*RANTES -403A.											
118499	Y	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	17	17q11.2-q12	CCL5	31222608	31231490		Moissidis, I.  et al. 2005	16024972			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	African American		CDC GDPinfo	6352	Hs.514821			Genetics in medicine. 2005 Jul-Aug;7(6):406-10	Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.		187011	11702	2	2005	 African American asthmatics/atopics had higher frequency of the TT mutant gene for the -1055 IL-13 SNP and of its mutant T allele. Regarding the -444 LTC4S SNP, there was a definite difference, although not statistically significant, with an OR of 2.1 for the mutant AC genotype in patients. If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.											
118500	N	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Wang, C.  et al. 2004	15021309				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		187011	11881	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
118495		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	17	17q11.2-q12	CCL5	31222608	31231490		Promrat, K.  et al. 2003	12557141				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Gastroenterology. 2003 Feb;124(2):352-60	Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C		187011	9183	2	2003	 In this cohort, the frequency of CCR5Delta32 homozygosity in patients with hepatitis C was similar to controls. The high prevalence of CCR5Delta32 homozygosity in the hepatitis C virus patients of the earlier study likely reflects resistance to human immunodeficiency virus infection in hemophiliacs rather than a susceptibility to hepatitis C virus infection. Expression of CCR5 and RANTES may be important in the modulation of hepatic inflammation and response to interferon therapy in chronic hepatitis C.	Control:2380 blood donors;Case:417 patients with liver diseases (339 with hepatitis C)										
118496	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	17	17q11.2-q12	CCL5	31222608	31231490		Konishi, I.  et al. 2004	15192276			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Japanese	Japan	CDC GDPinfo	6352	Hs.514821			Intervirology. 2004 ;47(2):114-20	CCR5 promoter polymorphism influences the interferon response of patients with chronic hepatitis C in Japan.		187011	9198	2	2004	 These findings indicate that CCR5 59029 is a host genetic factor that is associated with responses to IFN therapy among Japanese patients with chronic hepatitis C.	Cohort 105 patients with chronic hepatitis C Japan 										
118497	N	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	17	17q11.2-q12	CCL5	31222608	31231490		Liu, H.  et al. 2004	15319853				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			The Journal of infectious diseases. 2004 Sep;190(6):1055-8	Analysis of genetic polymorphisms in CCR5, CCR2, stromal cell-derived factor-1, RANTES, and dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin in seronegative individuals repeatedly exposed to HIV-1.		187011	9201	2	2004	The frequency of homozygous C-C chemokine receptor (CCR) 5- Delta 32 was higher in ES than in HIV-1-seropositive individuals. However, the CCR5-59029A, CCR2-64I, stromal cell-derived factor (SDF)-1-3'A, RANTES (regulated on activation, normally T cell-expressed and -secreted)-403A, and RANTES-28G polymorphisms were not associated with resistance to HIV-1 infection. Furthermore, we identified novel variants in the DC-SIGN (dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin) repeat region and observed that heterozygous DC-SIGN reduced the risk of HIV-1 infection.	Case:316 HIV-1-seropositive individuals;Control:425 HIV-1-seronegative individuals;Case:94 repeatedly exposed seronegative (ES) individuals										
118492		hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	17	17q11.2-q12	CCL5	31222608	31231490		Duan, Z. P.  et al. 2005	15978191				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Chinese medical journal. 2005 Jun;118(11):909-14	RANTES gene single nucleotide polymorphisms and expression in patients with chronic hepatitis B virus infection.		187011	9095	2	2005	 SNPs in RANTES gene do not affect chronic HBV infection or the outcome of interferon-alpha treatment in patients positive for HBV e antigen (HBeAg+). However, patients with CHB infection express the higher levels of plasma RANTES, which is thus associated with CHB infection.											
118493		lupus erythematosus; kidney disease	IMMUNE	IMM	Kidney Diseases|Lupus Erythematosus, Systemic	17	17q11.2-q12	CCL5	31222608	31231490		Ye, D. Q.  et al. 2005	16032408			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese		CDC GDPinfo	6352	Hs.514821			Archives of dermatological research. 2005 Sep;297(3):108-13	Polymorphisms in the promoter region of RANTES in Han Chinese and their relationship with systemic lupus erythematosus.		187011	9096	2	2005	These results suggest that (a) two genetic polymorphisms in the RANTES promoter do not correlate with SLE as individual polymorphisms. (b) interaction of the polymorphisms at two loci probably exerts a risk effect against SLE and (c) polymorphism at RANTES-403 locus is probably related with renal damage.											
118494		HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		McDermott, D. H.  et al. 2000	11125885			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Africa|North America	CDC GDPinfo	6352	Hs.514821			AIDS (London, England). 2000 Dec;14(17):2671-8	Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study.		187011	9157	2	2000	 These data implicate the RANTES-403A allele as a risk factor for HIV transmission and as a protective factor for HIV progression.	Case HIV positive participants of the Multicenter AIDS Cohort Study;Control exposed, uninfected participants of the Multicenter AIDS Cohort Study	HIV									
118489	Y	asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Leung, T. F.  et al. 2005	15715189				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	China	CDC GDPinfo	6352	Hs.514821			Respiratory medicine. 2005 Feb;99(2):216-9	RANTES G-401A polymorphism is associated with allergen sensitization and FEV1 in Chinese children.		187011	9092	2	2005	In conclusion, the gain-of-function mutation at -401 of RANTES promoter is associated with sensitization to cat and mold allergens and FEV1 in Chinese children.	Case:129 Chinese asthmatic children;Control:66:controls										
118490	Y	cardiovascular disease; kidney failure, chronic	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Kidney Failure, Chronic|Heart Diseases|Diabetes Mellitus, Type 2	17	17q11.2-q12	CCL5	31222608	31231490		Boger, C. A.  et al. 2005	15899487				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Atherosclerosis. 2005 Nov;183(1):121-9	RANTES gene polymorphisms predict all-cause and cardiac mortality in type 2 diabetes mellitus hemodialysis patients.		187011	9093	2	2005	In DM2 patients with ESRD, ACM due to cardiac events is associated with RANTES gene variants that are known to alter the expression of this chemokine important in atherosclerosis. Further study of the role of chemokine and chemokine receptor gene variation in determining vascular end points is needed.	Cohort 225 prevalent Caucasian type 2 diabetics receiving maintenance hemodialysis in 30 centers Southern Germany Aug, 1999 - Jan, 2000 through Dec, 2003 										
118491		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Wang, C. R.  et al. 2005	15971427			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	Taiwan	CDC GDPinfo	6352	Hs.514821			Clinical and experimental rheumatology. 2005 May-Jun;23(3):379-84	RANTES promoter polymorphism as a genetic risk factor for rheumatoid arthritis in the Chinese.		187011	9094	2	2005	 Our results indicate that polymorphism in the promoter region of RANTES gene is associated with the susceptibility to RA in the Chinese population.											
118486		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Wang, L. J.  et al. 2004	15256089			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese		CDC GDPinfo	6352	Hs.514821			Zhonghua jie he he hu xi za zhi. 2004 Jun;27(6):394-7	[Polymorphism of regulated upon activation, normal T cell expressed and secreted promoter region -28 position in Chinese allergic asthmatic children]		187011	9088	2	2004	 Polymorphism of RANTES C-28G was associated with susceptibility of asthma in children, and may aggravate the disease through increasing the level of RANTES and eosinophils.	Case:100 asthmatic children;Control:90 healthy children										
118487		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Zhao, X. Y.  et al. 2004	15265023			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	China	CDC GDPinfo	6352	Hs.514821			European journal of immunogenetics. 2004 Aug;31(4):179-83	Effects of single nucleotide polymorphisms in the RANTES promoter region in healthy and HIV-infected indigenous Chinese.		187011	9089	2	2004	Results suggest that -403G may be associated with increased susceptibility to HIV infection, while -28G may be associated with advanced disease progression. The impact of SNPs on HIV infection appears to be unique in Chinese.	Control:1,082 Chinese blood donors northern and southern China;Case:249 HIV patients southern China										
118488	Y	asthma; atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Al-Abdulhadi, S. A.  et al. 2004	15592421	-403 G-->A		promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Genes and immunity. 2005 Feb;6(1):24-30	Preferential transmission and association of the -403 G --> A promoter RANTES polymorphism with atopic asthma.		187011	9091	2	2004	No associations were found for bronchial hyper-responsiveness (BHR). The -403 G --> A is transmitted with atopy and atopic asthma, although its contribution appears to relate more to atopy than asthma and BHR.											
118483		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Fernandez, R. M.  et al. 2003	12803993	-403 G-->A,  -28G --> C			Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Spain	CDC GDPinfo	6352	Hs.514821			AIDS research and human retroviruses. 2003 May;19(5):349-52	Fluorescence resonance energy transfer analysis of the RANTES polymorphisms -403G --> A and -28G --> C: evaluation of both variants as susceptibilityfactors to HIV type 1 infection in the Spanish population.		187011	9084	2	2003	These data would be consistent with a lack of association between these SNPs and HIV-1 infection in our population.	Case Spanish HIV patients;Control:controls										
118484	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Liu, X. L.  et al. 2003	14687494				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	China	CDC GDPinfo	6352	Hs.514821			Zhonghua liu xing bing xue za zhi. 2003 Nov;24(11):971-5	[Preliminary study on the association of chemokine RANTES gene polymorphisms with HIV-1 infection in Chinese Han population]		187011	9086	2	2003	 The two -403A/G, -28C/G variants in RANTES promoter region and intron In1.1 T/C mutation genotype were found to be associated with the genetic susceptibility to HIV-1 infection among the Han Chinese. However, the In1.1C allele or its haplotypes in RANTES intron 1 displayed a stronger dominant association with HIV-1 infection in males.	Control:controls;Case Han Chinese HIV-1 infected males										
118485		allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	17	17q11.2-q12	CCL5	31222608	31231490		Kim, J. J.  et al. 2004	15064621			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Korea	CDC GDPinfo	6352	Hs.514821			The Laryngoscope. 2004 Apr;114(4):666-9	Chemokine RANTES promoter polymorphisms in allergic rhinitis.		187011	9087	2	2004	 The study results indicated that the -403 and -28 alleles in the RANTES promoter region belong to the predictor gene set for allergic rhinitis and could be used in genomic analysis.	Case:151 subjects with allergic rhinitis;Control:278 healthy individuals without atopic disease										
118480	N	dermatitis syndrome; eczema	INFECTION	INF	Dermatitis, Atopic	17	17q11.2-q12	CCL5	31222608	31231490		Kozma, G. T.  et al. 2002	11929421			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Germany	CDC GDPinfo	6352	Hs.514821			Allergy. 2002 Feb;57(2):160-3	Lack of association between atopic eczema/dermatitis syndrome and polymorphisms in the promoter region of RANTES and regulatory region of MCP-1.		187011	9081	2	2002	 In this cohort of Hungarian children there was no association between - 28G, and - 403A alleles in the RANTES promoter, - 2518G polymorphism in the distal regulatory region of the MCP-1 and AEDS, or allergy.	Control:102 Hungarian allergic children without AEDS;Case:128 Hungarian children with atopic eczema/dermatitis:syndrome (AEDS);Control:303 children of comparable ages without allergic:disorders										
118481	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Hizawa, N.  et al. 2002	12204866			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Japanese	Japan	CDC GDPinfo	6352	Hs.514821			American journal of respiratory and critical care medicine. 2002 Sep;166(5):686-90	A functional polymorphism in the RANTES gene promoter is associated with the development of late-onset asthma.		187011	9082	2	2002	Our findings suggest that, among Japanese, the -28G allele of the RANTES promoter region confers susceptibility to late-onset asthma.	Case:298 asthmatic patients:Japan;Control:311 control subjects										
118482		asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Eosinophilia|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Yao, T. C.  et al. 2003	12789231			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Chinese	China	CDC GDPinfo	6352	Hs.514821			The Journal of allergy and clinical immunology. 2003 Jun;111(6):1285-92	The RANTES promoter polymorphism: a genetic riskfactor for near-fatal asthma in Chinese children.		187011	9083	2	2003	 We conclude that the RANTES -28C/G polymorphism exacerbates asthma severity, representing a genetic risk factor for life-threatening asthma attacks in Chinese children. In addition, the linkage disequilibrium between these 2 polymorphisms is a potential confounder that must be considered in the design and interpretation of RANTES gene association studies.	Case:48/134 children with near-fatal asthma (n=48) and children with mild-to-moderate asthma (n=134);Control:69/107 children with allergic disorders, but no asthma (n=69) and nonasthmatic nonatopic control children:(n=107)										
118477		Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	17	17q11.2-q12	RANTES	31223121	31231459		Nickel RG 2000	10640782	G-403A (G-401A)			chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917378	German		KGB	6352	Hs.514821			Journal of immunology (Baltimore, Md :  1950). 2000 Feb;164(3):1612-6				5354	1	2000												
118478	Y	asthma; atopy	IMMUNE	IMM	Asthma|Airway Obstruction|Hypersensitivity, Immediate	17	17q11.2-q12	CCL5	31222608	31231490		Fryer, A. A.  et al. 2000	11197694	-403 G-->A		promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDPinfo	6352	Hs.514821			Genes and immunity. 2000 Dec;1(8):509-14	The -403 G-->A promoter polymorphism in the RANTES gene is associated with atopy and asthma		187011	9078	2	2000	Our data, whilst preliminary, indicate that the association of RANTES genotype with both atopy and asthma reflect independent effects, suggesting different mechanisms for the role of this chemokine in atopy and development of airway obstruction.	Control Caucasian non-atopic, non-asthmatic controls;Case:201 Caucasian atopic and/or asthmatic patients										
118479		sarcoidosis	IMMUNE	IMM	Sarcoidosis	17	17q11.2-q12	CCL5	31222608	31231490		Takada, T.  et al. 2001	11844139			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Japanese	Japan	CDC GDPinfo	6352	Hs.514821			Tissue antigens. 2001 Nov;58(5):293-8	Polymorphism in RANTES chemokine promoter affects extent of sarcoidosis in a Japanese population.		187011	9080	2	2001	From the results, we suggest that in RANTES gene polymorphism the homozygous A allele might be a genetic risk factor for extent disease of sarcoidosis.	Case:114 patients with sarcoidosis;Control:136 healthy control subjects										
118473	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	17	17q11.2-q12	CCL5	31222608	31231490		Kim JJ 2004	15064621	-403 G/A and -28 C/G		5' promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Korea	KGB	6352	Hs.514821			The Laryngoscope. 2004 Apr;114(4):666-9	Chemokine RANTES promoter polymorphisms in allergic rhinitis.		187011	5350	1	2004	 The study results indicated that the -403 and -28 alleles in the RANTES promoter region belong to the predictor gene set for allergic rhinitis and could be used in genomic analysis.	Case:151 subjects with allergic rhinitis;Control:278 healthy individuals without atopic disease										
118475	Y	Asthma. atopy. atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	17	17q11.2-q12	RANTES	31223121	31231459	p < 0.037	Nickel RG 2000	10640782	G-403A (G-401A)	RANTES promoter showed an up to 8-fold higher constitutive transcriptional activity of the mutant promoter		chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917378			KCB	6352	Hs.514821			Journal of immunology (Baltimore, Md :  1950). 2000 Feb;164(3):1612-6				5352	1	2000												
118476		Asthma. atopy	IMMUNE	IMM	Asthma|Airway Obstruction|Hypersensitivity, Immediate	17	17q11.2-q12	RANTES	31223121	31231459		Fryer AA 2000	11197694	G-403A (G-401A)			chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917378			KCB	6352	Hs.514821			Genes and immunity. 2000 Dec;1(8):509-14				5353	1	2000												
118470	N	atopic eczema/dermatitis syndrome	INFECTION	INF	Dermatitis, Atopic	17	17q11.2-q12	CCL5	31222608	31231490	n	Kozma GT et al. 2002	11929421			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Germany	KGB	6352	Hs.514821			Allergy. 2002 Feb;57(2):160-3	Lack of association between atopic eczema/dermatitis syndrome and polymorphisms in the promoter region of RANTES and regulatory region of MCP-1.		187011	5347	1	2002	 In this cohort of Hungarian children there was no association between - 28G, and - 403A alleles in the RANTES promoter, - 2518G polymorphism in the distal regulatory region of the MCP-1 and AEDS, or allergy.	Control:102 Hungarian allergic children without AEDS;Case:128 Hungarian children with atopic eczema/dermatitis:syndrome (AEDS);Control:303 children of comparable ages without allergic:disorders										
118471		HIV/SIV infection	INFECTION	INF	HIV Infections	17	17q11.2-q12	CCL5	31222608	31231490		Puissant B 2003	12879309				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			KGB	6352	Hs.514821			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1~~~ CCR2 and CXCR4 genes with regard to HIV/SIV infection.		187011	5348	1	2003												
118472	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Nakajima K 2003	12610055				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Japanese	Japan	Y Wang	6352	Hs.514821	Complications		Diabetes care. 2003 Mar;26(3):892-8	RANTES promoter genotype is associated with diabetic nephropathy in type 2 diabetic subjects.		187011	5349	1	2003	 The RANTES promoter -28G genotype and CCR5 promoter 59029A genotype may be independent risk factors for diabetic nephropathy in patients with type 2 diabetes and may have an additive effect on nephropathy.	Cohort 616 Japanese subjects with type 2 diabetes		RANTES promoter	28G	CCR5 promoter	59029A			Y		diabetic nephropathy in type 2 diabetes
118467		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q12	CCL4	31455332	31457127		Kim, K. W.  et al. 2000	11129109				Chemokine (C-C motif) ligand 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002984.2	Korean	Korea	CDC GDPinfo	6351	Hs.75703			J Neural Transm. 2000 ;107(10):1191-200	No association between presenilin 1 (PS1) intronic polymorphism and sporadic Alzheimer's disease in Koreans.		182284	20658	2	2000	the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.	Case:100 sporadic AD patients:Korea;Control:199 normal elderly individuals:Korea										
118468	Y	nasal polyps	OTHER	OTH	Nasal Polyps	17	17q11.2-q12	CCL5	31222608	31231490		Shin SH et al. 2000	10942140				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			KGB	6352	Hs.514821			The Laryngoscope. 2000 Aug;110(8):1353-7	Quantitative analysis of eotaxin and RANTES messenger RNA in nasal polyps: association of tissue and nasal eosinophils.		187011	5345	1	2000	 Nasal polyp eosinophilic infiltration and activation correlate mainly with increased eotaxin gene expression rather than with RANTES expression.											
118469	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Hizawa N et al. 2002	12204866			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		Japan	KGB	6352	Hs.514821			American journal of respiratory and critical care medicine. 2002 Sep;166(5):686-90	A functional polymorphism in the RANTES gene promoter is associated with the development of late-onset asthma.		187011	5346	1	2002	Our findings suggest that, among Japanese, the -28G allele of the RANTES promoter region confers susceptibility to late-onset asthma.	Case:298 asthmatic patients:Japan;Control:311 control subjects										
118464		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q11.23	CCL26	75236777	75257000		Chae, S. C.  et al. 2004	15207712				Chemokine (C-C motif) ligand 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006072.4		Korea	CDC GDPinfo	10344	Hs.131342			Biochemical and biophysical research communications. 2004 Jul;320(1):131-7	Analysis of the polymorphisms in eotaxin gene family and their association with asthma, IgE, and eosinophil		604697	24107	2	2004	Our results suggest that the polymorphisms of the eotaxin gene family are associated with the susceptibility of asthma and Eotaxin-3 might play the critical role for the recruitment of eosinophils and the maintenance of IgE levels.	Case:225 asthma patients;Control:294 non-asthmatic controls										
118465		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	7	7q11.23	CCL26	75236777	75257000			16391516				Chemokine (C-C motif) ligand 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006072.4	Korean	Korea	CDC GDPinfo	10344	Hs.131342			Experimental & molecular medicine. 2005 Dec;37(6):553-8	The association of eotaxin-2 and eotaxin-3 gene polymorphisms in a Korean population with ulcerative colitis		604697	24108	2	2005												
118466		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary	17	17q11-q21	CCL3	31439715	31441619		Takada, T.  et al. 2002	12413001				Chemokine (C-C motif) ligand 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR591007	Japanese	Japan	CDC GDPinfo	6348	Hs.514107			Internal medicine (Tokyo, Japan). 2002 Oct;41(10):813-8	MCP-1 and MIP-1A gene polymorphisms in Japanese patients with sarcoidosis.		182283	20657	2	2002	 The polymorphisms of the MCP-1 and MIP-1A genes do not play a substantial role in genetic predisposition for sarcoidosis or in clinical manifestations of sarcoidosis in this Japanese population. The MCP-1 SNP might be related to the recruitment of monocytes/macrophages to the alveolar spaces in sarcoidosis.	Case:118 patients with sarcoidosis;Control:145 healthy control subjects										
118461		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q11.23	CCL24	75279049	75280969		Chae, S. C.  et al. 2004	15207712				Chemokine (C-C motif) ligand 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002991.2		Korea	CDC GDPinfo	6369	Hs.247838			Biochemical and biophysical research communications. 2004 Jul;320(1):131-7	Analysis of the polymorphisms in eotaxin gene family and their association with asthma, IgE, and eosinophil		602495	20655	2	2004	Our results suggest that the polymorphisms of the eotaxin gene family are associated with the susceptibility of asthma and Eotaxin-3 might play the critical role for the recruitment of eosinophils and the maintenance of IgE levels.	Case:225 asthma patients;Control:294 non-asthmatic controls										
118462		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	7	7q11.23	CCL24	75279049	75280969			16391516				Chemokine (C-C motif) ligand 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002991.2	Korean	Korea	CDC GDPinfo	6369	Hs.247838			Experimental & molecular medicine. 2005 Dec;37(6):553-8	The association of eotaxin-2 and eotaxin-3 gene polymorphisms in a Korean population with ulcerative colitis		602495	20656	2	2005												
118463	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7q11.23	CCL26	75236777	75257000		Chae, S. C.  et al. 2005	15784470				Chemokine (C-C motif) ligand 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006072.4	Korean	Korea	CDC GDPinfo	10344	Hs.131342			Human immunology. 2005 Mar;66(3):314-20	Eotaxin-3 gene polymorphisms are associated with rheumatoid arthritis in a Korean population.		604697	9075	2	2005	Our results strongly suggest that the polymorphisms of eotaxin-3 might be associated with susceptibility to RA.	Case patients with rheumatoid arthritis:Korea;Control:controls										
118458		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Modi, W. S.  et al. 2003	14571188				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			AIDS (London, England). 2003 Nov;17(16):2357-65	MCP-1-MCP-3-Eotaxin gene cluster influences HIV-1 transmission.		158105	20654	2	2003	 Although the extensive linkage disequilibrium precludes positive identification of the causal variant, the results suggest that genetic variation in the H7 region influences susceptibility to HIV-1 infection. Since these chemokines do not bind the primary HIV-1 coreceptors CCR5 or CXCR4, the observed influence on transmission may result from activation of the immune system in response to infection rather than receptor blockage.	Cohort 3,000+ participants enrolled in five natural history cohorts US 										
118459	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	7	7q11.23	CCL24	75279049	75280969		Chae, S. C.  et al. 2004	15580493				Chemokine (C-C motif) ligand 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002991.2	Korean		CDC GDPinfo	6369	Hs.247838			Immunogenetics. 2005 Jan;56(10):760-4	The suggestive association of eotaxin-2 and eotaxin-3 gene polymorphisms in Korean population with allergic rhinitis.		602495	9072	2	2004	Our results strongly suggest that the SNP of eotaxin-3 might be associated with susceptibility to allergic rhinitis.	Case:178 allergic rhinitis patients;Control:281:control										
118460		asthma	IMMUNE	IMM	Asthma	7	7q11.23	CCL24	75279049	75280969		Min, J. W.  et al. 2005	15744457				Chemokine (C-C motif) ligand 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002991.2		Korea	CDC GDPinfo	6369	Hs.247838			Journal of human genetics. 2005 ;50(3):118-23	Association of eotaxin-2 gene polymorphisms with plasma eotaxin-2 concentration.		602495	9073	2	2005	In conclusion, the susceptibility of patients with asthma to high eotaxin-2 production may be due to genetic effects of the CCL24+1272A--> G polymorphism, ht2 and ht6 haplotypes.	Control:135 normal controls;Case:172:asthmatics										
118455	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	17	17q11.2-q21.1	CCL2	29606408	29608333		Park, B. L.  et al. 2004	15607028				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean	Korea	CDC GDPinfo	6347	Hs.303649			Journal of biochemistry and molecular biology. 2004 Nov;37(6):691-9	Association of interleukin 10 haplotype with low bone mineral density in Korean postmenopausal women		158105	16883	2	2004	Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.	Cohort 370 Korean postmenopausal women 										
118456		celiac disease	IMMUNE	IMM	Celiac Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Rueda, B.  et al. 2005	16078996				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		158105	17721	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
118457		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Pola, R.  et al. 2004	15288699				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Italian	Italy	CDC GDPinfo	6347	Hs.303649			Experimental gerontology. 2004 Aug;39(8):1249-52	Monocyte chemoattractant protein-1 (MCP-1) gene polymorphism and risk of Alzheimer's disease in Italians.		158105	20653	2	2004	These findings indicate that the -2518 A/G polymorphism of the MCP-1 gene is associated with AD in Italians and confirm that inflammatory gene variations may be important contributors in the development and progression of NEUROLOGICALenerative disorders.	Control:controls;Case Italian Alzheimer's disease patients										
118452		lupus erythematosus	IMMUNE	IMM	Arthritis|Lupus Erythematosus, Systemic	17	17q11.2-q21.1	CCL2	29606408	29608333		Ye, D. Q.  et al. 2004	15611878				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Chinese		CDC GDPinfo	6347	Hs.303649			Archives of dermatological research. 2005 Feb;296(8):366-71	The correlation between monocyte chemoattractant protein-1 and the arthritis of systemic lupus erythematosus among Chinese		158105	15638	2	2004	The results indicate an association between the presence of G at position -2518 in the MCP-1 promoter region and the presence of arthritis in patients with SLE.	Case:142 Chinese patients with systemic lupus erythematosus;Control:157 healthy controls										
118453		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	17	17q11.2-q21.1	CCL2	29606408	29608333		Hellier, S.  et al. 2003	14647058				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		158105	15658	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
118454		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q11.2-q21.1	CCL2	29606408	29608333		Flex, A.  et al. 2004	15308783				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		158105	15896	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
118449	N	chronic lung disease	UNKNOWN	UNK	Lung Diseases|Chronic Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Adcock, K.  et al. 2003	12944979	TNFalpha-308 A/G			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Genes and immunity. 2003 Sep;4(6):420-6	The TNF-alpha -308, MCP-1 -2518 and TGF-beta1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants.		158105	14347	2	2003	These data suggest that these polymorphisms do not play a significant role in determining risk for CLD in preterm infants, but may play a role in other complications in the neonatal period.	Cohort 178 mechanically ventilated very low birth weight (VLBW) infants 										
118450		Alzheimer's Disease	NEUROLOGICAL	NEUR	Encephalitis|Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Fenoglio, C.  et al. 2004	15312962				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3		Italy	CDC GDPinfo	6347	Hs.303649			Neurobiology of aging. 2004 Oct;25(9):1169-73	MCP-1 in Alzheimer's disease patients: A-2518Gpolymorphism and serum levels.		158105	15620	2	2004	The A-2518G polymorphism in MCP-1 gene does not seem to be a risk factor for the development of AD, but its presence correlates with higher levels of serum MCP-1, which can contribute to increase the inflammatory process occurring in AD.	Control:203 healthy age matched controls;Case:269 Alzheimer's disease patients										
118451		schizophrenia; schizoaffective disorder	PSYCH	PSY	Schizophrenia	17	17q11.2-q21.1	CCL2	29606408	29608333		Mundo, E.  et al. 2004	15389752				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):4-Jan	MCP-1 gene (SCYA2) and schizophrenia: acase-control association study.		158105	15621	2	2004	These data suggest that the A-2518G variant of the SCYA2 has not a major role in the pathogenesis of schizophrenia, while it could be implicated in the resistance to antipsychotic treatment.	Control:161 matched healthy controls;Case:191 schizophrenia or shizoaffective disorder (depressive subtype) patients										
118446		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	17	17q11.2-q21.1	CCL2	29606408	29608333		Nishimura, M.  et al. 2003	12651071				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		158105	11868	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
118447		kidney transplant	IMMUNE	IMM		17	17q11.2-q21.1	CCL2	29606408	29608333		Lacha, J.  et al. 2005	15848524				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		158105	11906	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
118448	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333	<0.0001	Flores-Villanueva PO, Ruiz-Morales JA, et al. 2006	16352737	Allele G, Dose effect	Increased MCP-1 expression (Rovin BH and Saxena R. 1999)	promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Mexicans and Koreans		CDC GDPinfo	6347	Hs.303649			The Journal of experimental medicine. 2005 Dec;202(12):1649-58	A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis		158105	12728	2	2005	The Odds of developing TB were 2.3- and 5.4-fold higher in carriers of genotypes AG and GG than in homozygous AA.	Case-Control study / results corrected for population stratification/admixture using genomic controls								Y		
118443		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Simeoni, E.  et al. 2004	15302103				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			European heart journal. 2004 Aug;25(16):1438-46	Association of RANTES G-403A gene polymorphism with increased risk of coronary arteriosclerosis.		158105	9200	2	2004	 RANTES A-403 was associated with CAD independently from conventional risk factors and CRP or fibrinogen as inflammatory biomarkers. The association was enhanced in smokers and ACS, conditions where platelet activation and inflammation predominate. RANTES A-403 may increase genetic susceptibility to CAD.	Case coronary artery disease patients from the LUdwigshafen Risk and Cardiovascular health (LURIC):cohort;Control controls from the LUdwigshafen Risk and Cardiovascular health (LURIC) cohort										
118444		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Huerta, C.  et al. 2004	15488313				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Neuroscience letters. 2004 Nov;370(3-Feb):151-4	Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.		158105	9204	2	2004	We conclude that  the four DNA polymorphisms, which have been associated with several immuno-modulated diseases, did not contribute to the risk of PD or LOAD.	Case:200/326 patients with Parkinson's disease (n=200) and late-onset Alzheimer's disease (n=326);Control:370 healthy controls										
118445		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Gonzalez-Escribano, M. F.  et al. 2003	12826377			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Spanish	Spain	CDC GDPinfo	6347	Hs.303649			Human immunology. 2003 Jul;64(7):741-4	MCP-1 promoter polymorphism in Spanish patients with rheumatoid arthritis.		158105	11260	2	2003	In conclusion, MCP-1 polymorphism is slightly associated with the susceptibility to RA in patients lacking the HLA SE.	Case:141 Spanish rheumatoid arthritis patients;Control:194:controls										
118440	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Szalai, C.  et al. 2001	11500196				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Atherosclerosis. 2001 Sep;158(1):233-9	Involvement of polymorphisms in the chemokine system in the susceptibility for coronary artery disease (CAD). Coincidence of elevated Lp(a) and MCP-1 -2518 G/G genotype in CAD patients.		158105	9163	2	2001	The MCP-1 -2518G variant in homozygous form appears as a genetic risk factor for severe CAD. This genotype is associated with elevated Lp(a) levels in patients. Individuals homozygous for CCR2-64I or CCR5Delta32 mutations are at reduced risk for severe CAD.	Case:318 patients with coronary artery disease (CAD) referred to coronary bypass surgery;Control:320 healthy controls										
118441		liver transplant	OTHER	OTH		17	17q11.2-q21.1	CCL2	29606408	29608333		Schroppel, B.  et al. 2002	12462338				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Journal of clinical immunology. 2002 Nov;22(6):381-5	Analysis of gene polymorphisms in the regulatory region of MCP-1, RANTES, and CCR5 in liver transplant recipients.		158105	9181	2	2002	In conclusion, variants of RANTES-28, MCP-1 -2518, and CCR5-59029 neither influenced the incidence of acute rejection nor affected long-term allograft survival upon liver transplantation in the context of this analysis.	Cohort 209 liver transplant recipients 										
118442		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	17	17q11.2-q21.1	CCL2	29606408	29608333		Yang, B.  et al. 2004	15135805				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Cytokine. 2004 May;26(3):114-21	Polymorphisms of chemokine and chemokine receptor genes in Type 1 diabetes mellitus and its complications.		158105	9195	2	2004	These results suggest that polymorphisms of the MCP-1, CCR2 and CCR5 genes may be associated with T1DM and its complications.	Control:104 normal controls;Case:260 patients with type 1 diabetes with and without diabetic microvascular complications										
118437		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Liao, C. H.  et al. 2004	15468376			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Chinese	China	CDC GDPinfo	6347	Hs.303649			The Journal of rheumatology. 2004 Oct;31(10):2062-7	Polymorphisms in the promoter region of RANTES and the regulatory region of monocyte chemoattractant protein-1 among Chinese children with systemic lupus erythematosus.		158105	9090	2	2004	 In the Chinese population, children with RANTES -28C/G polymorphisms have increased risk of developing SLE. Healthy controls with the C/G or G/G genotype were 2.37 times more likely to have SLE compared to those with the C/C genotype.	Control:107 healthy children of comparable ages;Case:46 Chinese patients with systemic lupus erythematosus										
118438		HIV; atherosclerosis, generalized	INFECTION	INF	HIV Infections|Carotid Artery Diseases|Arteriosclerosis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Alonso-Villaverde, C.  et al. 2004	15466648				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Circulation. 2004 Oct;110(15):2204-9	Atherosclerosis in Patients Infected With HIV Is Influenced by a Mutant Monocyte Chemoattractant Protein-1 Allele		158105	9145	2	2004	 HIV-infected patients with the MCP-1-2518G allele have a 5-fold increased risk for atherosclerosis, as assessed by ultrasonography.	Case:183 patients infected with HIV;Control:348 population-based control subjects										
118439		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333			16356504				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Icelandic		CDC GDPinfo	6347	Hs.303649			Atherosclerosis. 2005	Examination of genetic effects of polymorphisms in the MCP-1 and CCR2 genes on MI in the Icelandic population		158105	9152	2	2005												
118434		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary	17	17q11.2-q21.1	CCL2	29606408	29608333		Takada, T.  et al. 2002	12413001				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Japanese	Japan	CDC GDPinfo	6347	Hs.303649			Internal medicine (Tokyo, Japan). 2002 Oct;41(10):813-8	MCP-1 and MIP-1A gene polymorphisms in Japanese patients with sarcoidosis.		158105	9076	2	2002	 The polymorphisms of the MCP-1 and MIP-1A genes do not play a substantial role in genetic predisposition for sarcoidosis or in clinical manifestations of sarcoidosis in this Japanese population. The MCP-1 SNP might be related to the recruitment of monocytes/macrophages to the alveolar spaces in sarcoidosis.	Case:118 patients with sarcoidosis;Control:145 healthy control subjects										
118435	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Szalai, C.  et al. 2001	11544456				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3		Hungary	CDC GDPinfo	6347	Hs.303649			The Journal of allergy and clinical immunology. 2001 Sep;108(3):375-81	Polymorphism in the gene regulatory region of MCP-1 is associated with asthma susceptibility and severity.		158105	9079	2	2001	 In this cohort of children, there are associations between carrying G at -2518 of the MCP-1 gene regulatory region and the presence of asthma as well as between asthma severity and homozygosity for the G allele. In asthmatic children, the MCP-1 -2518G polymorphism correlated with increased eosinophil levels. This variant of MCP-1 might belong to the predictor gene set for asthma.	Case:151 children with nonasthmatic but allergic phenotype;Case:160 children with asthma;Control:303 children without allergic or asthmatic disorders										
118436		Behcet's disease; retinal vasculitis; uveitis	IMMUNE	IMM	Behcet Syndrome|Retinal Vasculitis|Uveitis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Chen, Y.  et al. 2004	14651522				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Tissue antigens. 2004 Jan;63(1):41-5	Chemokine gene polymorphisms associate with gender in patients with uveitis.		158105	9085	2	2004	Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved.	Cohort patients with Behcet's disease, and with retinal vasculitis 										
118430	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		McDermott, D. H.  et al. 2005	16116069				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Circulation. 2005 Aug;112(8):1113-20	CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study.		158105	9067	2	2005	 Our data are consistent with the hypothesis that MCP-1 is involved in the pathogenesis of human atherosclerosis and myocardial infarction.											
118431	N	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Cermakova, Z.  et al. 2005	16164699	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Czech		CDC GDPinfo	6347	Hs.303649			International journal of immunogenetics. 2005 Oct;32(5):315-8	The MCP-1 -2518 (A to G) single nucleotide polymorphism is not associated with myocardial infarction in the Czech population.		158105	9068	2	2005												
118432		uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Wegscheider, B. J.  et al. 2005	16280979	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Molecular vision [electronic resource]. 2005 Nov;11:896-900	Role of the CCL2/MCP-1 -2518A>G gene polymorphism in HLA-B27 associated uveitis.		158105	9069	2	2005	 Our data suggest that the CCL2 -2518A>G polymorphism may play a role in HLA-B27 associated acute anterior uveitis.											
118427	N	graft-versus-host disease	IMMUNE	IMM	Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Franco-Lopez, E.  et al. 2005	15866653			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Transplantation proceedings. 2005 Apr;37(3):1496-8	Lack of Association of Recipient MCP-1 Gene Promoter Polymorphism With Acute Graft Rejection After Orthotopic Liver Transplantation		158105	9064	2	2005	The present study supports the lack of involvement of polymorphism at position -2518 (A/G) of the MCP-1 gene on the susceptibility to acute allograft rejection among OLT recipients.	Cohort 150 Caucasian liver transplant recipients South of Spain 										
118428		pancreatitis, acute	IMMUNE	IMM	Pancreatitis|Acute Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Papachristou, G. I.  et al. 2005	15880317	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Clinical gastroenterology and hepatology. 2005 May;3(5):475-81	Is the monocyte chemotactic protein-1 -2518 G allele a risk factor for severe acute pancreatitis?		158105	9065	2	2005	 MCP-1 -2518 G allele is a risk factor for severe AP. MCP-1 serum levels, measured early in the course of AP, appear to be an accurate predictor of severity of acute pancreatitis and death.	Control:116:controls;Case:77 consecutive patients with pancreatitis patients										
118429	N	monocyte chemoattractant protein-1	IMMUNE	IMM	Diabetes Mellitus, Type 2	17	17q11.2-q21.1	CCL2	29606408	29608333		Zietz, B.  et al. 2005	16050950			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Caucasian		CDC GDPinfo	6347	Hs.303649			Diabetes, obesity & metabolism. 2005 Sep;7(5):570-8	Caucasian patients with type 2 diabetes mellitus have elevated levels of monocyte chemoattractant protein-1 that are not influenced by the -2518 A-->G promoter polymorphism.		158105	9066	2	2005	 This is the first study providing MCP-1 levels, percentiles and genotype frequency in a large and representative cohort of patients with type 2 diabetes mellitus. Compared to the literature, MCP-1 levels were found to be substantially higher in patients with type 2 diabetes mellitus. In contrast, genotype frequencies were similar compared to those in non-diabetic patients and were not related to MCP-1 levels. The mechanisms behind these elevated MCP-1 serum levels in type 2 diabetes are not to be explained by simple associations with hormones, cytokines or genotypes.											
118424	Y	HIV	INFECTION	INF	HIV Infections	17	17q11.2-q21.1	CCL2	29606408	29608333		Letendre, S.  et al. 2004	15579297	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Journal of neuroimmunology. 2004 Dec;157(2-Jan):193-6	The monocyte chemotactic protein-1 -2578G allele is associated with elevated MCP-1 concentrations in cerebrospinal fluid.		158105	9061	2	2004	Our findings suggest that this MCP-1 promoter polymorphism influences HIV neuropathogenesis by regulating MCP-1 protein expression in the central nervous system (CNS).	Cohort 98 HIV-infected subjects 										
118425	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Karrer, S.  et al. 2005	15654958				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			The Journal of investigative dermatology. 2005 Jan;124(1):92-8	The -2518 Promotor Polymorphism in the MCP-1 Gene Is Associated with Systemic Sclerosis		158105	9062	2	2005	Genotyping for the -2518 (A/G) MCP-1 promotor polymorphism showed that GG homozygotes were significantly more frequent in patients with SSc than in controls (28%vs 6%).	Control:139 healthy controls;Case:18 patients with systemic sclerosis										
118426		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis, Atrophic|Duodenal Ulcer|Stomach Ulcer	17	17q11.2-q21.1	CCL2	29606408	29608333		Hellmig, S.  et al. 2005	15740484				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Journal of gastroenterology and hepatology. 2005 Mar;20(3):405-8	Functional promotor polymorphism in RANTES gene does not influence the clinical course of Helicobacter pylori infection.		158105	9063	2	2005	 Even though H. pylori itself induces expression of RANTES, at the transcriptional level, genetic variations leading to higher transcriptional activity do not modify the degree of inflammation.	Case:344 consecutive patients with H. pylori infection undergoing upper gastrointestinal endoscopy;Control:370 blood donors										
118421		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q11.2-q21.1	CCL2	29606408	29608333		Kroner, A.  et al. 2004	15191525	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Tissue antigens. 2004 Jul;64(1):70-3	Analysis of the monocyte chemoattractant protein 1 -2518 promoter polymorphism in patients with multiple sclerosis.		158105	9058	2	2004	Thus, our data could not reveal any association between the MCP-1 -2518 polymorphism and susceptibility to or clinical disease course of MS.	Control:405 healthy controls;Case:634 multiples sclerosis patients										
118422		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.2-q21.1	CCL2	29606408	29608333		Pae, C. U.  et al. 2004	15296827	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean	Korea	CDC GDPinfo	6347	Hs.303649			Psychiatry research. 2004 Jul;127(3):279-81	Monocyte chemoattractant protein-1 (MCP1) promoter -2518 polymorphism may confer a susceptibility to major depressive disorder in the Korean population		158105	9059	2	2004	The present study suggests that this polymorphism may confer a susceptibility to major depressive disorder in the Korean population.	Control:controls;Case:90 patients with major depressive disorder:Korea										
118423	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Insulin Resistance	17	17q11.2-q21.1	CCL2	29606408	29608333		Simeoni, E.  et al. 2004	15349727	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Diabetologia. 2004 Sep;47(9):1574-80	Association between the A-2518G polymorphism in the monocyte chemoattractant protein-1 gene and insulin resistance and Type 2 diabetes mellitus		158105	9060	2	2004	In a large cohort of Caucasians, the MCP-1 G-2518 gene variant was significantly and negatively correlated with plasma MCP-1 levels and the prevalence of insulin resistance and Type 2 diabetes. These results add to recent evidence supporting a role for MCP-1 in pathologies associated with hyperinsulinaemia.	Cohort 3,307 Caucasian individuals of the Ludwigshafen Risk and Cardiovascular Health (LURIC) cohort 										
118418		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	17	17q11.2-q21.1	CCL2	29606408	29608333		Cho, M. L.  et al. 2004	15115316	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean	Korea	CDC GDPinfo	6347	Hs.303649			Autoimmunity. 2004 Feb;37(1):77-80	The MCP-1 promoter -2518 polymorphism in Behcet's disease: correlation between allele types, MCP-1production and clinical symptoms among Korean patients.		158105	9055	2	2004	 Although the allele frequency of MCP-1 promoter -2518 polymorphism is not likely to be the reason for the elevated serum MCP-1 level in Korean patients with Behcet's disease, it is possible that proinflammatory factors induced in patients' serum cause stronger activation of MCP-1 expression from the G-type promoter, as well as increased incidence of uveitis and gastric ulcer, among carriers of the G-allele.	Case Korean cases of Behcet's disease:Korea;Control healthy Koreans										
118419		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.2-q21.1	CCL2	29606408	29608333		Pae, C. U.  et al. 2004	15167690	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		CDC GDPinfo	6347	Hs.303649			Psychiatric genetics. 2004 Jun;14(2):65-7	Monocyte chemoattractant protein-1 promoter -2518 polymorphism and schizophrenia in the Korean population		158105	9056	2	2004	The present study therefore calls for further studies on the potential role of the MCP-1 promoter -2518 polymorphism in clinical heterogeneity of schizophrenia.	Control:114 healthy controls;Case:123 schizophrenic inpatients:Korea										
118420		nephropathy in other diseases	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Tucci, M.  et al. 2004	15188361			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Arthritis and rheumatism. 2004 Jun;50(6):1842-9	Strong association of a functional polymorphism in the monocyte chemoattractant protein 1 promoter gene with lupus nephritis.		158105	9057	2	2004	 These results suggest that an A/G or G/G genotype may predispose to the development of SLE and further indicate that SLE patients with these genotypes may be at higher risk of developing LN. Moreover, measurement of urinary levels of MCP-1 may be a useful tool for the detection and management of LN.	Control:118:controls;Case:134 SLE patients (>/=4 American College of Rheumatology criteria for SLE; 49 with and 85 without LN)										
118415		asthma	IMMUNE	IMM	Asthma	17	17q11.2-q21.1	CCL2	29606408	29608333		Yao, T. C.  et al. 2004	15005768				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Chinese		CDC GDPinfo	6347	Hs.303649			Allergy. 2004 Apr;59(4):436-41	MCP-1 gene regulatory region polymorphism in Chinese children with mild, moderate and near-fatal asthma.		158105	9052	2	2004	 These results suggest that the MCP-1 -2518A/G polymorphism is not a risk factor for near-fatal asthma. Furthermore, this polymorphism seems to play no role in the development of asthma or atopy in Chinese subjects, possibly as a result of the genetic heterogeneity between Asian and Caucasian populations with respect to regulation of MCP-1 expression. Our results underscore the necessity of accounting for ethnic background in the investigation of asthma-predisposition genes.	Control:107 nonasthmatic, nonatopic control children;Case:48/134/69 children with near-fatal asthma (n=48), mild-to-moderate asthmatics (n=134), and allergic-disorder cases without asthma (n=69)										
118416		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.2-q21.1	CCL2	29606408	29608333		Pae, C. U.  et al. 2004	15034225	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		CDC GDPinfo	6347	Hs.303649			Neuropsychobiology. 2004 ;49(3):111-4	Monocyte chemoattractant protein-1 promoter -2518 polymorphism may have an influence on clinical heterogeneity of bipolar I disorder in the Korean population.		158105	9053	2	2004	The present study suggests that the MCP1 promoter -2518 polymorphism may not confer susceptibility to BID itself, but could have an influence on the clinical heterogeneity of BID, at least in the Korean population.	Control:114 healthy controls;Case:92 Korean patients with bipolar I dosorder										
118417	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Combarros, O.  et al. 2004	15082170	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Neuroscience letters. 2004 Apr;360(2-Jan):25-8	No evidence for association of the monocyte chemoattractant protein-1 (-2518) gene polymorphism and Alzheimer's disease.		158105	9054	2	2004	In the present study, neither the MCP-1 (-2518) G allele itself nor its interaction with the IL-1A (-889) allele 2, TNF-alpha (-850) allele T or APOE epsilon4 allele conferred increased risk for AD.	Control:315 control subjects;Case:328 sporadic Alzheimer's disease patients								N		
118412	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Muhlbauer, M.  et al. 2003	14517792				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Gastroenterology. 2003 Oct;125(4):1085-93	A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease.		158105	9049	2	2003	 Inheritance of the -2518 MCP-1 G allele, which appears to affect hepatic MCP-1 expression, may predispose HCV patients to more severe hepatic inflammation and fibrosis.	Control:139 healthy controls;Case:206 patients with crhonic hepatitis C-related liver:disease										
118413	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases	17	17q11.2-q21.1	CCL2	29606408	29608333		Tabara, Y.  et al. 2003	14620921				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Hypertension research. 2003 Sep;26(9):677-83	Polymorphism of the monocyte chemoattractant protein (MCP-1) gene is associated with the plasma level of MCP-1 but not with carotid intima-media thickness.		158105	9050	2	2003	These findings indicate that plasma MCP-1 is associated with carotid atherosclerosis. Although -2518 SNP is associated with the plasma level of MCP-1, it was not directly associated with carotid atherosclerosis.	Cohort 325 community residents aged 50 years or older and free from any cardiovascular complications 										
118414	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Steinmetz, O. M.  et al. 2004	14767014	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Nephrology, dialysis, transplantation. 2004 Mar;19(3):596-601	No association of the -2518 MCP-1 A/G promoter polymorphism with incidence and clinical course of IgA nephropathy.		158105	9051	2	2004	 Our data indicate that no association exists between the -2518 A/G polymorphism and susceptibility to IgA nephropathy or its clinical course.	Control:140 ethnically, ag and sex-matched controls;Case:207 patients with biopsy proven IgA nephropathy										
118409		carpal-tunnel syndrome	OTHER	OTH	Carpal Tunnel Syndrome|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Omori, K.  et al. 2002	12408680	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Japanese	Japan	CDC GDPinfo	6347	Hs.303649			Amyloid. 2002 Sep;9(3):175-82	Association of the MCP-1 gene polymorphism A-2518G with carpal-tunnel syndrome in hemodialysis patients.		158105	9046	2	2002	In conclusion, homozygosity for G at -2518 in the MCP-1 gene might be a candidate for the genetic marker of CTS development in Japanese hemodialysis patients.	Cohort 366 Japanese patients who underwent hemodialysis 										
118410	Y	nephropathy in other diseases	IMMUNE	IMM	Kidney Diseases|Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Progression	17	17q11.2-q21.1	CCL2	29606408	29608333		Kim, H. L.  et al. 2002	12460032				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			American journal of kidney diseases. 2002 Dec;40(6):1146-52	The polymorphism of monocyte chemoattractant protein-1 is associated with the renal disease of SLE.		158105	9047	2	2002	 These results suggest that a genetic polymorphism in the 5' flanking region of the MCP-1 gene would be associated with nephritis in lupus through modulating MCP-1 expression.	Case patients with systemic lupus erythematosus;Control healthy controls										
118411	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Herfarth, H.  et al. 2003	12904997				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			International journal of colorectal disease. 2003 Sep;18(5):401-5	Polymorphism of monocyte chemoattractant protein 1 in Crohn's disease.		158105	9048	2	2003	 The degree of intestinal inflammation in Crohn's disease is associated with MCP-1 tissue levels. Furthermore there is evidence for an association of different disease behavior with different MCP-1 genotypes.	Case:179 patients with Crohn's disease;Control:189:controls										
118406	Y	Asthma. asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333	P<0.001	Szalai C 2001	11544456	Allele -2518G; genotype -2518GG			chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Hungarian	Hungary	KCB	6347	Hs.303649			The Journal of allergy and clinical immunology. 2001 Sep;108(3):375-81	Polymorphism in the gene regulatory region of MCP-1 is associated with asthma susceptibility and severity.		158105	5343	1	2001	 In this cohort of children, there are associations between carrying G at -2518 of the MCP-1 gene regulatory region and the presence of asthma as well as between asthma severity and homozygosity for the G allele. In asthmatic children, the MCP-1 -2518G polymorphism correlated with increased eosinophil levels. This variant of MCP-1 might belong to the predictor gene set for asthma.	Case:151 children with nonasthmatic but allergic phenotype;Case:160 children with asthma;Control:303 children without allergic or asthmatic disorders										
118407	Y	Asthma. asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333	P<0.001	Szalai C 2001	11544456	Allele -2518G; genotype -2518GG			chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3		Hungary	KCB	6347	Hs.303649			The Journal of allergy and clinical immunology. 20	Polymorphism in the gene regulatory region of MCP-1 is associated with asthma susceptibility and severity.		158105	5344	1	2001	 In this cohort of children, there are associations between carrying G at -2518 of the MCP-1 gene regulatory region and the presence of asthma as well as between asthma severity and homozygosity for the G allele. In asthmatic children, the MCP-1 -2518G polymorphism correlated with increased eosinophil levels. This variant of MCP-1 might belong to the predictor gene set for asthma.	Case:151 children with nonasthmatic but allergic phenotype;Case:160 children with asthma;Control:303 children without allergic or asthmatic disorders										
118408		arthritis; lupus erythematosus; Still's disease	IMMUNE	IMM	Arthritis, Rheumatoid|Still's Disease, Adult-Onset|Lupus Erythematosus, Systemic	17	17q11.2-q21.1	CCL2	29606408	29608333		Hwang, S. Y.  et al. 2002	12358851	-2518		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean	Korea	CDC GDPinfo	6347	Hs.303649			European journal of immunogenetics. 2002 Oct;29(5):413-6	Allelic frequency of the MCP-1 promoter -2518 polymorphism in the Korean population and in Korean patients with rheumatoid arthritis, systemic lupus erythematosus and adult-onset Still's disease.		158105	9045	2	2002	The G- vs. A-allele profile in patients with systemic autoimmune diseases is similar to that in healthy Koreans, and does not appear to contribute to elevated MCP-1 production in patients.	Case:48/41/19 patients with rheumatoid arthritis (n=48), systemic lupus erythematosus (n=41) and adult-onset Still's:disease:Korea;Control:68 healthy Koreans										
118403		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Vasculitis, Allergic Cutaneous|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Susceptibility	17	17q11.2-q21.1	CCL2	29606408	29608333		Aguilar F 2001	11844145				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Spanish	Spain	Y Wang	6347	Hs.303649			Tissue antigens. 2001 Nov;58(5):335-8	MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus.		158105	5340	1	2001												
118404	Y	carpal-tunnel syndrome	OTHER	OTH	Carpal Tunnel Syndrome|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Omori K et al. 2002	12408680				chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3		Japan	KGB	6347	Hs.303649			Amyloid. 2002 Sep;9(3):175-82	Association of the MCP-1 gene polymorphism A-2518G with carpal-tunnel syndrome in hemodialysis patients.		158105	5341	1	2002	In conclusion, homozygosity for G at -2518 in the MCP-1 gene might be a candidate for the genetic marker of CTS development in Japanese hemodialysis patients.	Cohort 366 Japanese patients who underwent hemodialysis										
118405	Y	renal tubular damage	OTHER	OTH	Diabetic Nephropathies|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2	17	17q11.2-q21.1	CCL2	29606408	29608333		Morii T et al. 2003	12505750				chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			KGB	6347	Hs.303649			Journal of diabetes and its complications. 2003 Jan-Feb;17(1):5-Nov	Association of monocyte chemoattractant protein-1 with renal tubular damage in diabetic nephropathy.		158105	5342	1	2003	We conclude that  heavy proteinuria itself may accelerate the progression of diabetic nephropathy by increasing the MCP-1 expression in renal tubuli.											
118400		bipolar I disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.2-q21.1	CCL2	29606408	29608333		Pae CU 2004	15034225			5' promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		KGB	6347	Hs.303649			Neuropsychobiology. 2004 ;49(3):111-4	Monocyte chemoattractant protein-1 promoter -2518 polymorphism may have an influence on clinical heterogeneity of bipolar I disorder in the Korean population.		158105	5337	1	2004	The present study suggests that the MCP1 promoter -2518 polymorphism may not confer susceptibility to BID itself, but could have an influence on the clinical heterogeneity of BID, at least in the Korean population.	Control:114 healthy controls;Case:92 Korean patients with bipolar I dosorder										
118401		systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Still's Disease, Adult-Onset|Lupus Erythematosus, Systemic	17	17q11.2-q21.1	CCL2	29606408	29608333		Hwang SY 2002	12358851	promoter -2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Caucasian	Korea	Y Wang	6347	Hs.303649			European journal of immunogenetics. 2002 Oct;29(5):413-6	Allelic frequency of the MCP-1 promoter -2518 polymorphism in the Korean population and in Korean patients with rheumatoid arthritis, systemic lupus erythematosus and adult-onset Still's disease.		158105	5338	1	2002	The G- vs. A-allele profile in patients with systemic autoimmune diseases is similar to that in healthy Koreans, and does not appear to contribute to elevated MCP-1 production in patients.	Case:48/41/19 patients with rheumatoid arthritis (n=48), systemic lupus erythematosus (n=41) and adult-onset Still's:disease:Korea;Control:68 healthy Koreans										
118402	Y	systemic lupus erythematosus	IMMUNE	IMM	Kidney Diseases|Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Progression	17	17q11.2-q21.1	CCL2	29606408	29608333		Kim HL 2002	12460032				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			Y Wang	6347	Hs.303649			American journal of kidney diseases. 2002 Dec;40(6):1146-52	The polymorphism of monocyte chemoattractant protein-1 is associated with the renal disease of SLE.		158105	5339	1	2002	 These results suggest that a genetic polymorphism in the 5' flanking region of the MCP-1 gene would be associated with nephritis in lupus through modulating MCP-1 expression.	Case patients with systemic lupus erythematosus;Control healthy controls										
118397	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333	n	Hakonarson H 2001	11739132	G-2518A			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Icelandic	Iceland	KCB	6347	Hs.303649			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			158105	5334	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
118398	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Muhlbauer M 2003	14517792				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			KGB	6347	Hs.303649			Gastroenterology. 2003 Oct;125(4):1085-93	A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease.		158105	5335	1	2003	 Inheritance of the -2518 MCP-1 G allele, which appears to affect hepatic MCP-1 expression, may predispose HCV patients to more severe hepatic inflammation and fibrosis.	Control:139 healthy controls;Case:206 patients with crhonic hepatitis C-related liver:disease										
118399		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Tucci M 2004	15188361				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			Y Wang	6347	Hs.303649			Arthritis and rheumatism. 2004 Jun;50(6):1842-9	Strong association of a functional polymorphism in the monocyte chemoattractant protein 1 promoter gene with lupus nephritis.		158105	5336	1	2004	 These results suggest that an A/G or G/G genotype may predispose to the development of SLE and further indicate that SLE patients with these genotypes may be at higher risk of developing LN. Moreover, measurement of urinary levels of MCP-1 may be a useful tool for the detection and management of LN.	Control:118:controls;Case:134 SLE patients (>/=4 American College of Rheumatology criteria for SLE; 49 with and 85 without LN)										
118393		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	17	17q21.1-q21.2	CCL11	29636799	29639312		Zee, R. Y.  et al. 2002	12082592				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		601156	28214	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
118395		systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	16	16q13	CCL17	55996179	56007475		Okamoto H 2003	14677179				Chemokine (C-C motif) ligand 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002987.2			Y Wang	6361	Hs.546294			The Journal of rheumatology. 2003 Nov;30(11):2369-73	A role for TARC/CCL17, a CC chemokine, in systemic lupus erythematosus.		601520	5360	1	2003	 TARC/CCL17 may be a useful serological marker and may facilitate an assessment of the degree of disease activity in SLE. The development of SLE is closely related to the elevation of plasma TARC/CCL17 levels.											
118396	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	16	16q13	CCL17	55996179	56007475		Tsunemi, Y.  et al. 2004	15500644			promoter	Chemokine (C-C motif) ligand 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002987.2	Japanese	Japan	CDC GDPinfo	6361	Hs.546294			Experimental dermatology. 2004 Nov;13(11):715-9	The -431C>T polymorphism of thymus and activation-regulated chemokine increases the promoter activity but is not associated with susceptibility to atopic dermatitis in Japanese patients		601520	9044	2	2004	 These results suggest that the -431C>T SNP of the TARC gene enhances the promoter activity of TARC gene but is not associated with susceptibility to AD in Japanese population.	Control:158 healthy controls;Case:193 Japanese atopic dermatitis patients										
118390	Y	asthma	IMMUNE	IMM	Asthma	17	17q21.1-q21.2	CCL11	29636799	29639312		Nakamura, H.  et al. 2001	11742272				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			The Journal of allergy and clinical immunology. 2001 Dec;108(6):946-53	Variant eotaxin: its effects on the asthmaphenotype.		601156	15618	2	2001	 The THR(23) variant is associated with both decreased eosinophil counts and higher levels of lung function in subjects with asthma.	Control a nonasthmatic population;Case:806 subjects with asthma										
118391	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.1-q21.2	CCL11	29636799	29639312		Zee, R. Y.  et al. 2004	15186951				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			Atherosclerosis. 2004 Jul;175(1):91-4	Threonine for alanine substitution in the eotaxin (CCL11) gene and the risk of incident myocardial infarction.		601156	15619	2	2004	In this cohort, a T for A substitution at amino acid 23 in the eotaxin gene is associated with increased risk for incident myocardial infarction. If confirmed in other cohorts, these data support the emerging hypothesis that eotaxin participates in atherosclerosis.	Control:2,092 individuals from the prospective cohort who remained free of cardiovascular disease over a mean fullow-up period of 13.2 years;Case:523 individuals who subsequently developed myocardial infarction from a prospective cohort of 14,916 initially healthy American men										
118392	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312		Modi, W. S.  et al. 2003	14571188				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			AIDS (London, England). 2003 Nov;17(16):2357-65	MCP-1-MCP-3-Eotaxin gene cluster influences HIV-1 transmission.		601156	15627	2	2003	 Although the extensive linkage disequilibrium precludes positive identification of the causal variant, the results suggest that genetic variation in the H7 region influences susceptibility to HIV-1 infection. Since these chemokines do not bind the primary HIV-1 coreceptors CCR5 or CXCR4, the observed influence on transmission may result from activation of the immune system in response to infection rather than receptor blockage.	Cohort 3,000+ participants enrolled in five natural history cohorts US 										
118386		asthma	IMMUNE	IMM	Asthma	17	17q21.1-q21.2	CCL11	29636799	29639312		Chang, H. S.  et al. 2005	15661912			promoter	Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			Journal of immunology (Baltimore, Md :  1950). 2005 Feb;174(3):1525-31	A single nucleotide polymorphism on the promoter of eotaxin1 associates with its mRNA expression and asthma phenotypes.		601156	9043	2	2005	Our data suggest that the EOT-384A>G SNP participates in the regulation of eotaxin1 expression by providing a potential binding site for a repressor, and that the ANOVA of EOT-384A>G may predict asthma phenotypes.	Case asthmatic subjects;Control normal controls										
118388		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312			16391516				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2	Korean	Korea	CDC GDPinfo	6356	Hs.54460			Experimental & molecular medicine. 2005 Dec;37(6):553-8	The association of eotaxin-2 and eotaxin-3 gene polymorphisms in a Korean population with ulcerative colitis		601156	9074	2	2005												
118389		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	17	17q21.1-q21.2	CCL11	29636799	29639312		Rosner, S. A.  et al. 2005	16184405				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		601156	14694	2	2005			smoking (tobacco)									
118383	N	atopic dermatitis but two of them	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312	n	Tsunemi Y et al. 2002	12234713			promoter	Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			KGB	6356	Hs.54460			Journal of dermatological science. 2002 Sep;29(3):222-8	Eotaxin gene single nucleotide polymorphisms in the promoter and exon regions are not associated with susceptibility to atopic dermatitis but two of them in the promoter region are associated with serum IgE levels in patients with atopic dermatitis.		601156	5357	1	2002	Eotaxin gene SNPs in the promoter and exon regions are not associated with susceptibility to AD, but two of them in the promoter region are associated with phenotype of AD.	Case:140 Japanese atopic dermatitis patients;Control:140 healhty Japanese individuals										
118384		Atopy	IMMUNE	IMM		17	17q21.1-q21.2	CCL11	29636799	29639312		Lilly 1997	9120022				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			KGB	6356	Hs.54460			The Journal of clinical investigation. 1997 Apr;99(7):1767-73			601156	5358	1	1997												
118385	Y	dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312		Tsunemi, Y.  et al. 2002	12234713			promoter	Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDPinfo	6356	Hs.54460			Journal of dermatological science. 2002 Sep;29(3):222-8	Eotaxin gene single nucleotide polymorphisms in the promoter and exon regions are not associated with susceptibility to atopic dermatitis, but two of them in the promoter region are associated with serum IgE levels in patients with atopic dermatitis.		601156	9042	2	2002	Eotaxin gene SNPs in the promoter and exon regions are not associated with susceptibility to AD, but two of them in the promoter region are associated with phenotype of AD.	Case:140 Japanese atopic dermatitis patients;Control:140 healhty Japanese individuals										
118380		alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Liver Diseases, Alcoholic|Hallucinations|Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	11	11p15.4	CCKBR	6237541	6249933		Okubo, T.  et al. 2002	12198366				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			CDC GDPinfo	887	Hs.203			Alcoholism, clinical and experimental research. 2002 Aug;26(8 Suppl):2S-5S	Investigation of quantitative trait loci in the CCKAR gene with susceptibility to alcoholism.		118445	24106	2	2002	 The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury. However, a significant association was found between polymorphism at the -85 locus of the CCKAR gene and patients with hallucination, and especially patients with hallucination accompanying delirium tremens.	Case:131/70 Japanese male patients with alcohol withdrawal symptoms (n=131) and Japanese patients with alcoholic liver injury (n=70);Control:98 age-matched Japanese male controls (nonhabitual:drinkers)										
118381	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312	n	Hakonarson H 2001	11739132	A356T			Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2	Icelandic	Iceland	KCB	6356	Hs.54460			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			601156	5355	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
118382	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312	n	Hakonarson H 2001	11739132	Ala23Thr. G119A			Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2	Icelandic	Iceland	KCB	6356	Hs.54460			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			601156	5356	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
118377	N	schizophrenia; alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.4	CCKBR	6237541	6249933		Vanakoski, J.  et al. 2001	11368834				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2		Finland	CDC GDPinfo	887	Hs.203			Psychiatry research. 2001 May;102(1):7-Jan	No association of CCK and CCK(B) receptor polymorphisms with alcohol dependence.		118445	24103	2	2001	The results suggest that CCK -45C>T and CCKBR Val125Ile polymorphisms do not have a major role in alcohol dependence in the population studied. The role of the CCK(A) the receptor in alcohol dependence remains open until additional DNA sequence variants for this gene become available.	Case:107 unrelated alcohol dependent subjects, who were criminal offenders:Finland;Control:150 unrelated healthy controls	alcohol									
118378		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	11	11p15.4	CCKBR	6237541	6249933		Wang, J.  et al. 2003	12777967				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2	Chinese		CDC GDPinfo	887	Hs.203			Pharmacogenetics. 2003 Jun;13(6):365-9	Cholecystokinin, cholecystokinin-A receptor and cholecystokinin-B receptor gene polymorphisms in Parkinson's disease.		118445	24104	2	2003	These results suggest that, in Chinese, visual hallucinations in Parkinson's disease are associated with cholecystokinin -45C>T polymorphism, and this association was still observed in the presence of the cholecystokinin-A receptor TC/CC genotype, indicating a possible interaction of these two genes in the visual hallucinogenesis in Parkinson's disease.	Case:160 Chinese Parkinson's disease patients;Control:160 controls, matched for age, gender, ethnic origin and area of residence										
118379	Y	Parkinson's disease; hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	11	11p15.4	CCKBR	6237541	6249933		Goldman, J. G.  et al. 2004	15313848				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			CDC GDPinfo	887	Hs.203			Archives of neurology. 2004 Aug;61(8):1280-4	Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of thecholecystokinin system.		118445	24105	2	2004	 Our study supports a previous association of hallucinations in PD subjects with the CCK T allele and the combined CCK T and CCKAR C allele, suggesting that the CCK system may influence the development of hallucinations in PD subjects. The lower representation of the T allele in our white sample limited our statistical power. Further assessment of the T allele as a risk factor for hallucinations would include longitudinal study of nonhallucinators to detect the evolution of hallucinations relative to T allele frequency.	Control:controls;Case Parkinson's disease cases with and without chronic:hallucinations										
118374	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.4	CCKBR	6237541	6249933	n	Vanakoski J et al. 2001	11368834				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2		Finland	KGB	887	Hs.203			Psychiatry research. 2001 May;102(1):7-Jan	No association of CCK and CCK(B) receptor polymorphisms with alcohol dependence.		118445	1100	1	2001	The results suggest that CCK -45C>T and CCKBR Val125Ile polymorphisms do not have a major role in alcohol dependence in the population studied. The role of the CCK(A) the receptor in alcohol dependence remains open until additional DNA sequence variants for this gene become available.	Case:107 unrelated alcohol dependent subjects, who were criminal offenders:Finland;Control:150 unrelated healthy controls	alcohol									
118375	N	panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.4	CCKBR	6237541	6249933		Hamilton, S. P.  et al. 2001	11244486				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			CDC GDPinfo	887	Hs.203			Molecular psychiatry. 2001 Jan;6(1):59-65	No association or linkage between polymorphisms in the genes encoding cholecystokinin and the cholecystokinin B receptor and panic disorder		118445	9041	2	2001	The results reported here provide little support for the role of these polymorphisms in panic disorder.	Cohort 596 individuals in 70 panic disorder pedigrees, as well as 77 haplotype relative risk 'triads 										
118376	N	panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.4	CCKBR	6237541	6249933		Yamada, K.  et al. 2001	11515749				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			CDC GDPinfo	887	Hs.203			J Neural Transm. 2001 ;108(7):837-48	Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder.		118445	20652	2	2001	Our data therefore suggests that the CCKBR and A2aAR genes do not play major roles in the development of this disease.	Control:100 matched controls (not otherwise specified in:abstract);Case:91 unrelated panic disorder patients										
118370	N	panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.4	CCKBR	6237541	6249933	n	Kato T et al. 1996	8837709				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			American journal of medical genetics. 1996 Jul;67(4):401-5	Missense mutation of the cholecystokinin B receptor gene: lack of association with panic disorder.		118445	1096	1	1996												
118371		Idiopathic environmental intolerance	OTHER	OTH	Multiple Chemical Sensitivity|Genetic Predisposition to Disease|Panic Disorder	11	11p15.4	CCKBR	6237541	6249933		Binkley K et al. 2001	11344357				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			The Journal of allergy and clinical immunology. 2001 May;107(5):887-90	Idiopathic environmental intolerance: increased prevalence of panic disorder-associated cholecystokinin B receptor allele 7.		118445	1097	1	2001	 These findings provide preliminary evidence that IEI and panic disorder share a common neurogenetic basis, which would predate the anxiety-producing effects of IEI symptoms. Further studies with larger samples are warranted, but these results support previous studies that suggest that panic disorder may account for much of the symptomatology in at least some cases of IEI and provide a basis for rational treatment strategies.											
118373		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	11	11p15.4	CCKBR	6237541	6249933		Marchal-Victorion S 2002	11773861				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			Y Wang	887	Hs.203			Pharmacogenetics. 2002 Jan;12(1):23-30	Genetic, pharmacological and functional analysis of cholecystokinin-1 and cholecystokinin-2 receptor polymorphism in type 2 diabetes and obese patients.		118445	1099	1	2002												
118366		alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Liver Diseases, Alcoholic|Hallucinations|Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	4	4p15.1-p15.2	CCKAR	26092115	26101140		Okubo, T.  et al. 2002	12198366				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			Alcoholism, clinical and experimental research. 2002 Aug;26(8 Suppl):2S-5S	Investigation of quantitative trait loci in the CCKAR gene with susceptibility to alcoholism.		118444	20651	2	2002	 The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury. However, a significant association was found between polymorphism at the -85 locus of the CCKAR gene and patients with hallucination, and especially patients with hallucination accompanying delirium tremens.	Case:131/70 Japanese male patients with alcohol withdrawal symptoms (n=131) and Japanese patients with alcoholic liver injury (n=70);Control:98 age-matched Japanese male controls (nonhabitual:drinkers)										
118367	N	panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.4	CCKBR	6237541	6249933		Yamada K et al. 2001	11515749				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			J Neural Transm. 2001 ;108(7):837-48	Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder.		118445	1093	1	2001	Our data therefore suggests that the CCKBR and A2aAR genes do not play major roles in the development of this disease.	Control:100 matched controls (not otherwise specified in:abstract);Case:91 unrelated panic disorder patients										
118368		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	11	11p15.4	CCKBR	6237541	6249933		Okubo T et al. 2001	11513220				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			Journal of studies on alcohol. 2001 Jul;62(4):413-21	Polymorphisms of the CCK CCKAR and CCKBR genes: an association with alcoholism study.		118445	1094	1	2001	 Our data suggest that polymorphisms of the CCK, CCKAR and CCKBR genes do not play a major role in alcohol withdrawal symptoms (even though significant associations were found among polymorphisms at the -388 and -333 loci of the CCKAR gene and hallucinations, the rate was nonsignificant after Bonferroni correction).											
118363	N	schizophrenia; alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p15.1-p15.2	CCKAR	26092115	26101140		Vanakoski, J.  et al. 2001	11368834				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2		Finland	CDC GDPinfo	886	Hs.129			Psychiatry research. 2001 May;102(1):7-Jan	No association of CCK and CCK(B) receptor polymorphisms with alcohol dependence.		118444	20648	2	2001	The results suggest that CCK -45C>T and CCKBR Val125Ile polymorphisms do not have a major role in alcohol dependence in the population studied. The role of the CCK(A) the receptor in alcohol dependence remains open until additional DNA sequence variants for this gene become available.	Case:107 unrelated alcohol dependent subjects, who were criminal offenders:Finland;Control:150 unrelated healthy controls	alcohol									
118364		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	4	4p15.1-p15.2	CCKAR	26092115	26101140		Wang, J.  et al. 2003	12777967				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Chinese		CDC GDPinfo	886	Hs.129			Pharmacogenetics. 2003 Jun;13(6):365-9	Cholecystokinin, cholecystokinin-A receptor and cholecystokinin-B receptor gene polymorphisms in Parkinson's disease.		118444	20649	2	2003	These results suggest that, in Chinese, visual hallucinations in Parkinson's disease are associated with cholecystokinin -45C>T polymorphism, and this association was still observed in the presence of the cholecystokinin-A receptor TC/CC genotype, indicating a possible interaction of these two genes in the visual hallucinogenesis in Parkinson's disease.	Case:160 Chinese Parkinson's disease patients;Control:160 controls, matched for age, gender, ethnic origin and area of residence										
118365		Parkinson's disease; hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	4	4p15.1-p15.2	CCKAR	26092115	26101140		Goldman, J. G.  et al. 2004	15313848				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			Archives of neurology. 2004 Aug;61(8):1280-4	Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of thecholecystokinin system.		118444	20650	2	2004	 Our study supports a previous association of hallucinations in PD subjects with the CCK T allele and the combined CCK T and CCKAR C allele, suggesting that the CCK system may influence the development of hallucinations in PD subjects. The lower representation of the T allele in our white sample limited our statistical power. Further assessment of the T allele as a risk factor for hallucinations would include longitudinal study of nonhallucinators to detect the evolution of hallucinations relative to T allele frequency.	Control:controls;Case Parkinson's disease cases with and without chronic:hallucinations										
118360	Y	depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	4	4p15.1-p15.2	CCKAR	26092115	26101140		Koks, S.  et al. 2005	15927089				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			The international journal of neuropsychopharmacology. 2005	Analysis of SNP profiles in patients with major depressive disorder.		118444	17600	2	2005	Altogether we were able to find some nominal associations, but due to small sample size these results should be taken as exploratory. However, the effect of GAGT haplotype on the CCKAR gene may be considered as increasing the risk for MDD.	Control:160 healthy controls;Case:177 patients with major depressive disorder										
118361	Y	weight gain	METABOLIC	MET	Weight Gain	4	4p15.1-p15.2	CCKAR	26092115	26101140		Koda, M.  et al. 2004	15340101				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			Obesity research. 2004 Aug;12(8):1212-6	Association of cholecystokinin 1 receptor and beta3-adrenergic receptor polymorphisms with midlife weight gain		118444	20646	2	2004	These results suggest that the combination of CCK1R and the beta3-AR polymorphisms is a contributing factor for midlife weight gain in men.	Cohort 1,012 Japanese men and women (40 to 59 years of age) 										
118362		smoking behavior	CHEMDEPENDENCY	CHEM		4	4p15.1-p15.2	CCKAR	26092115	26101140		Takimoto, T.  et al. 2005	15740988				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			Psychiatry research. 2005 Feb;133(3-Feb):123-8	Cholecystokinin (CCK) and the CCKA receptor gene polymorphism, and smoking behavior.		118444	20647	2	2005	Our data suggest that polymorphisms of the CCK gene may be one of the risk factors for smoking behavior.	Case:smokers;Control:non-smokers										
118356	Y	intelligence	NEUROLOGICAL	NEUR		4	4p15.1-p15.2	CCKAR	26092115	26101140		Shimokata, H.  et al. 2005	15723764			promoter	Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Japanese		CDC GDPinfo	886	Hs.129			Annals of epidemiology. 2005 Mar;15(3):196-201	Cholecystokinin A receptor gene promoter polymorphism and intelligence.		118444	9040	2	2005	 There were statistically significant differences in IQ for CCKAR gene promoter polymorphisms A-81G and G-128T in community-living Japanese.	Cohort 2,251 community-dwelling Japanese men and women aged 40 to 79 years 										
118357		anorexia nervosa; bulimia	PSYCH	PSY	Panic Disorder|Eating Disorders|Bulimia Nervosa	4	4p15.1-p15.2	CCKAR	26092115	26101140			16362631				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Japanese		CDC GDPinfo	886	Hs.129			J Neural Transm. 2005	Association of ghrelin receptor gene polymorphism with bulimia nervosa in a Japanese population		118444	10825	2	2005												
118358		panic disorder	PSYCH	PSY	Panic Disorder	4	4p15.1-p15.2	CCKAR	26092115	26101140		Ise, K.  et al. 2003	12627462				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):29-31	Association between the CCK-A receptor gene and panic disorder.		118444	15616	2	2003	The Pst polymorphism of CCKAR may not be associated with PD.	Control normal controls;Case:17/26 male (n=17) and female (n=26) panic disorder:patients										
118359	Y	schizophrenia	PSYCH	PSY	Hallucinations|Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Sanjuan, J.  et al. 2004	15363473				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			European psychiatry. 2004 Sep;19(6):349-53	A possible association between the CCK-AR gene and persistent auditory hallucinations in schizophrenia.		118444	15617	2	2004	Our data support the possible role of the CCK-AR gene in the development of persistent AH in schizophrenic patients.	Case:105 schizopphrenic patients with auditory:hallucinations;Control:93 unrelated controls										
118352		obesity	METABOLIC	MET	Obesity	4	4p15.1-p15.2	CCKAR	26092115	26101140		Hamann A et al. 1999	10333087				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Horm Metab Res. 1999 Apr;31(4):287-8	Missense variants in the human cholecystokinin type A receptor gene: no evidence for association with early-onset obesity.		118444	1092	1	1999												
118353	Y	schizophrenia	PSYCH	PSY	Hallucinations|Genetic Predisposition to Disease|Schizophrenia|Schizophrenia, Paranoid	4	4p15.1-p15.2	CCKAR	26092115	26101140		Tachikawa, H.  et al. 2001	11549403	(-333G>T and -286A>G)		promoter	Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDPinfo	886	Hs.129			Psychiatry research. 2001 Sep;103(3-Feb):147-55	Linked polymorphisms (-333G>T and -286A>G) in the promoter region of the CCK-A receptor gene may be associated with schizophrenia.		118444	9036	2	2001	The results supported our previous data, and suggest the possible involvement of the -333G>T and the -286A>G polymorphisms in the promoter region of the CCKAR gene in the predisposition to schizophrenia.	Case schizophrenic patients;Control not specified in abstract										
118354	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders	4	4p15.1-p15.2	CCKAR	26092115	26101140		Miyasaka, K.  et al. 2004	14691070				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Japanese	Japan	CDC GDPinfo	886	Hs.129			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Jan-Feb;39(1):25-8	Association of cholecystokinin-A receptor gene polymorphism with alcohol dependence in a Japanese population.		118444	9037	2	2004	 The CCK-AR gene -81A/G polymorphism, especially in the -81G allele, may be associated with intractable alcoholism.	Case:384 alcoholics who were homozygous for ALDH2*1/2*1;Control:792:controls										
118348	N	panic disorder	PSYCH	PSY	Panic Disorder	4	4p15.1-p15.2	CCKAR	26092115	26101140	n	Ise K et al. 2003	12627462				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):29-31	Association between the CCK-A receptor gene and panic disorder.		118444	1088	1	2003	The Pst polymorphism of CCKAR may not be associated with PD.	Control normal controls;Case:17/26 male (n=17) and female (n=26) panic disorder:patients										
118350	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders	4	4p15.1-p15.2	CCKAR	26092115	26101140		Miyasaka K 2004	14691070				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Japanese	Japan	KGB	886	Hs.129			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Jan-Feb;39(1):25-8	Association of cholecystokinin-A receptor gene polymorphism with alcohol dependence in a Japanese population.		118444	1090	1	2004	 The CCK-AR gene -81A/G polymorphism, especially in the -81G allele, may be associated with intractable alcoholism.	Case:384 alcoholics who were homozygous for ALDH2*1/2*1;Control:792:controls										
118351		obesity	METABOLIC	MET	Cholelithiasis|Obesity	4	4p15.1-p15.2	CCKAR	26092115	26101140		Miller LJ et al. 1995	7557108				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Gastroenterology. 1995 Oct;109(4):1375-80	Abnormal processing of the human cholecystokinin receptor gene in association with gallstones and obesity.		118444	1091	1	1995	 Abnormality of processing an apparently normal CCK receptor gene yields the predominant product with an absent third exon and encoding a nonfunctional receptor, probably reflecting a defective trans-acting splicing factor. An atypical lariat region in the third intron may explain the presence of small amounts of this product in control patients.											
118344		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Tachikawa H et al. 2000	10893485				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			American journal of medical genetics. 2000 Apr;96(2):141-5	Novel polymorphisms of the human cholecystokinin A receptor gene: an association analysis with schizophrenia.		118444	1084	1	2000												
118345	Y	cholelithiasis	METABOLIC	MET	Adenocarcinoma|Gallbladder Neoplasms|Cholelithiasis|Genetic Predisposition to Disease	4	4p15.1-p15.2	CCKAR	26092115	26101140		Miyasaka K et al. 2002	12572876				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Journal of gastroenterology. 2002 Nov;37 Suppl 14:102-6	Association of cholecystokinin A receptor gene polymorphism with cholelithiasis and the molecular mechanisms of this polymorphism.		118444	1085	1	2002	 Deteriorating gallbladder contractions, possibly induced by alterations in the CCK-AR gene, as well as CCK-AR gene polymorphism, promoted gallstone formation.											
118346	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	4	4p15.1-p15.2	CCKAR	26092115	26101140	n	Okubo T et al. 2001	11513220				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Journal of studies on alcohol. 2001 Jul;62(4):413-21	Polymorphisms of the CCK CCKAR and CCKBR genes: an association with alcoholism study.		118444	1086	1	2001	 Our data suggest that polymorphisms of the CCK, CCKAR and CCKBR genes do not play a major role in alcohol withdrawal symptoms (even though significant associations were found among polymorphisms at the -388 and -333 loci of the CCKAR gene and hallucinations, the rate was nonsignificant after Bonferroni correction).											
118341		alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Liver Diseases, Alcoholic|Hallucinations|Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	3	3p22-p21.3	CCK	42274321	42282666		Okubo, T.  et al. 2002	12198366				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Alcoholism, clinical and experimental research. 2002 Aug;26(8 Suppl):2S-5S	Investigation of quantitative trait loci in the CCKAR gene with susceptibility to alcoholism.		118440	15614	2	2002	 The data from the case control suggest that polymorphisms of the promoter region of the CCKAR gene do not play a major role in the pathogenesis of alcohol withdrawal symptoms or alcoholic liver injury. However, a significant association was found between polymorphism at the -85 locus of the CCKAR gene and patients with hallucination, and especially patients with hallucination accompanying delirium tremens.	Case:131/70 Japanese male patients with alcohol withdrawal symptoms (n=131) and Japanese patients with alcoholic liver injury (n=70);Control:98 age-matched Japanese male controls (nonhabitual:drinkers)										
118342	Y	irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Constipation	3	3p22-p21.3	CCK	42274321	42282666		Cremonini, F.  et al. 2005	15743365				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			The American journal of gastroenterology. 2005 Mar;100(3):652-63	Effect of CCK-1 antagonist, dexloxiglumide, in female patients with irritable bowel syndrome: apharmacodynamic and pharmacogenomic study.		118440	15615	2	2005	 Dexloxiglumide accelerates gastric emptying and delays proximal but not overall CT in patients with C-IBS. Dexloxiglumide does not accelerate transit in C-IBS. The role of CCK-1 gene polymorphisms in delaying gastric emptying and in determining response to therapy deserves further study.	Cohort 36 patients with constipation-predominant irritable bowel syndrome 	dexloxiglumide									
118343	Y	schizophrenia	PSYCH	PSY	Hallucinations|Genetic Predisposition to Disease|Schizophrenia|Schizophrenia, Paranoid	4	4p15.1-p15.2	CCKAR	26092115	26101140	P= 0.0132	Tachikawa H 2001	11549403	-333G>T and the -286A>G polymorphisms in the promoter region			Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Psychiatry research. 2001 Sep;103(3-Feb):147-55	Linked polymorphisms (-333G>T and -286A>G) in the promoter region of the CCK-A receptor gene may be associated with schizophrenia.		118444	1083	1	2001	The results supported our previous data, and suggest the possible involvement of the -333G>T and the -286A>G polymorphisms in the promoter region of the CCKAR gene in the predisposition to schizophrenia.	Case schizophrenic patients;Control not specified in abstract										
118338	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Obesity|Tobacco Use Disorder|Genetic Predisposition to Disease|Body Weight	3	3p22-p21.3	CCK	42274321	42282666		Comings, D. E.  et al. 2001	11509018				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Molecular genetics and metabolism. 2001 Aug;73(4):349-53	Cholecystokinin (cck) gene as a possible risk factor for smoking: a replication in twoindependent samples		118440	15611	2	2001	These results are consistent with a role of the CCK gene as a risk factor for smoking.	Cohort 191 Caucasian women participating in an obesity study Cohort 725 parents of twins from the Minnesota Twin and Family Study of substance abuse 	smoking (tobacco)									
118339	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666		Wang, Z.  et al. 2002	12116180			promoter	Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			American journal of medical genetics. 2002 Jul;114(5):479-82	Possible association of a cholecystokinin promoter variant to schizophrenia.		118440	15612	2	2002	While our family-based tests seem to support the CCK involvement in schizophrenia, no definite conclusion can be drawn based on such a small sample size. This preliminary finding is subjected to future investigations.	Control:247:controls;Case:85:schizophrenics										
118340	N	mood disorder	PSYCH	PSY	Mood Disorders	3	3p22-p21.3	CCK	42274321	42282666		Hattori, E.  et al. 2002	12116188				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Japanese		CDC GDPinfo	885	Hs.458426			American journal of medical genetics. 2002 Jul;114(5):523-6	Association study of the short tandem repeat in the 5' upstream region of the cholecystokinin gene with mood disorders in the Japanese population.		118440	15613	2	2002	These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.	Case:165 subjects with mood disorders consisting of unipolar and bipolar disorders;Control:253:controls										
118334	Y	panic disorder	PSYCH	PSY	Panic Disorder	3	3p22-p21.3	CCK	42274321	42282666		Hosing, V. G.  et al. 2004	15354400				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Journal of neural transmission Supplementum. 2004 ;(68):147-56	Cholecystokinin- and cholecystokinin-B-receptor gene polymorphisms in panic disorder		118440	9033	2	2004	Our findings are consistent with the notion that genetic variation in the CCK neurotransmitter system contributes to the pathogenesis of panic disorder.	Control gender and age matched controls;Case:115/111 German panic disorder sample (n = 115 for CCK gene polymorphism, n = 111 for CCK-B-receptor:polymorphism)										
118335	Y	smoking behavior	CHEMDEPENDENCY	CHEM		3	3p22-p21.3	CCK	42274321	42282666		Takimoto, T.  et al. 2005	15740988				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Psychiatry research. 2005 Feb;133(3-Feb):123-8	Cholecystokinin (CCK) and the CCKA receptor gene polymorphism, and smoking behavior.		118440	9034	2	2005	Our data suggest that polymorphisms of the CCK gene may be one of the risk factors for smoking behavior.	Case:smokers;Control:non-smokers										
118336	Y	suicide	PSYCH	PSY	Depressive Disorder	3	3p22-p21.3	CCK	42274321	42282666		Shindo, S.  et al. 2005	15837012			promoter	Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Japanese		CDC GDPinfo	885	Hs.458426			Forensic science international. 2005 May;150(1):85-90	Polymorphisms of the cholecystokinin gene promoter region in suicide victims in Japan.		118440	9035	2	2005	The polymorphism of the CCK gene promoter region was found to represent a susceptibility factor for suicidal behavior in Japanese males.	Case:154 selected suicide victims;Control:328:controls										
118337	Y	schizophrenia; panic disorder	PSYCH	PSY	Panic Disorder|Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666		Hattori, E.  et al. 2001	11443535				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Molecular psychiatry. 2001 Jul;6(4):465-70	Identification of a compound short tandem repeat stretch in the 5'-upstream region of the cholecystokinin gene, and its association with panic disorder but not with schizophrenia.		118440	15610	2	2001	These findings suggest that the novel STR or a nearby variant may confer susceptibility to the development of panic disorder.	Control:252 not specified in abstract;Case:305:schizophrenics;Case:73 panic patients										
118331	N	schizophrenia; panic disorder	PSYCH	PSY	Panic Disorder|Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666		Hattori, E.  et al. 2001	11803530				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Japanese		CDC GDPinfo	885	Hs.458426			American journal of medical genetics. 2001 Dec;105(8):779-82	Association studies of the CT repeat polymorphism in the 5' upstream region of the cholecystokinin B receptor gene with panic disorder and schizophrenia in Japanese subjects.		118440	9030	2	2001	Together with the negative reports on association analyses using other polymorphisms of the CCKBR gene and Japanese samples, the present results exclude a major genetic contribution of the CCKBR gene to susceptibilities to panic disorder and schizophrenia in Japanese cohorts.	Case:154 Japanese schizophrenics;Control:199 Japanese controls;Case:71 Japanese subjects with panic disorder										
118332		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	3	3p22-p21.3	CCK	42274321	42282666		Wang, J.  et al. 2003	12777967				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Chinese		CDC GDPinfo	885	Hs.458426			Pharmacogenetics. 2003 Jun;13(6):365-9	Cholecystokinin, cholecystokinin-A receptor and cholecystokinin-B receptor gene polymorphisms in Parkinson's disease.		118440	9031	2	2003	These results suggest that, in Chinese, visual hallucinations in Parkinson's disease are associated with cholecystokinin -45C>T polymorphism, and this association was still observed in the presence of the cholecystokinin-A receptor TC/CC genotype, indicating a possible interaction of these two genes in the visual hallucinogenesis in Parkinson's disease.	Case:160 Chinese Parkinson's disease patients;Control:160 controls, matched for age, gender, ethnic origin and area of residence		cholecystokinin	45C>T	cholecystokinin-A	TC/CC			Y		Parkinson's disease.
118333	Y	Parkinson's disease; hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	3	3p22-p21.3	CCK	42274321	42282666		Goldman, J. G.  et al. 2004	15313848				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDPinfo	885	Hs.458426			Archives of neurology. 2004 Aug;61(8):1280-4	Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of thecholecystokinin system.		118440	9032	2	2004	 Our study supports a previous association of hallucinations in PD subjects with the CCK T allele and the combined CCK T and CCKAR C allele, suggesting that the CCK system may influence the development of hallucinations in PD subjects. The lower representation of the T allele in our white sample limited our statistical power. Further assessment of the T allele as a risk factor for hallucinations would include longitudinal study of nonhallucinators to detect the evolution of hallucinations relative to T allele frequency.	Control:controls;Case Parkinson's disease cases with and without chronic:hallucinations										
118327	Y	panic disorder	PSYCH	PSY	Panic Disorder	3	3p22-p21.3	CCK	42274321	42282666		Wang Z et al. 1998	9603610				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			American journal of medical genetics. 1998 May;81(3):228-34	Possible association of a cholecystokinin promotor polymorphism (CCK-36CT) with panic disorder.		118440	1080	1	1998												
118328	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	3	3p22-p21.3	CCK	42274321	42282666	n	Ishiguro H et al. 1999	10220011			promoter	Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Psychiatry research. 1999 Feb;85(2):209-13	No association between C-45T polymorphism in the Sp1 binding site of the promoter region of the cholecystokinin gene and alcoholism.		118440	1081	1	1999												
118329		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	3	3p22-p21.3	CCK	42274321	42282666		Marchal-Victorion S 2002	11773861				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			Y Wang	885	Hs.458426			Pharmacogenetics. 2002 Jan;12(1):23-30	Genetic, pharmacological and functional analysis of cholecystokinin-1 and cholecystokinin-2 receptor polymorphism in type 2 diabetes and obese patients.		118440	1082	1	2002												
118330	N	schizophrenia; alcoholism; liver disease, alcoholic	CHEMDEPENDENCY	CHEM	Alcoholism	3	3p22-p21.3	CCK	42274321	42282666		Vanakoski, J.  et al. 2001	11368834				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3		Finland	CDC GDPinfo	885	Hs.458426			Psychiatry research. 2001 May;102(1):7-Jan	No association of CCK and CCK(B) receptor polymorphisms with alcohol dependence.		118440	9029	2	2001	The results suggest that CCK -45C>T and CCKBR Val125Ile polymorphisms do not have a major role in alcohol dependence in the population studied. The role of the CCK(A) the receptor in alcohol dependence remains open until additional DNA sequence variants for this gene become available.	Case:107 unrelated alcohol dependent subjects, who were criminal offenders:Finland;Control:150 unrelated healthy controls	alcohol									
118323	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	3	3p22-p21.3	CCK	42274321	42282666	n	Vanakoski J et al. 2001	11368834				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3		Finland	KGB	885	Hs.458426			Psychiatry research. 2001 May;102(1):7-Jan	No association of CCK and CCK(B) receptor polymorphisms with alcohol dependence.		118440	1076	1	2001	The results suggest that CCK -45C>T and CCKBR Val125Ile polymorphisms do not have a major role in alcohol dependence in the population studied. The role of the CCK(A) the receptor in alcohol dependence remains open until additional DNA sequence variants for this gene become available.	Case:107 unrelated alcohol dependent subjects, who were criminal offenders:Finland;Control:150 unrelated healthy controls	alcohol									
118324	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	3	3p22-p21.3	CCK	42274321	42282666		Fujii C et al. 1999	10668930				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Clinical genetics. 1999 Nov;56(5):394-9	Association between polymorphism of the cholecystokinin gene and idiopathic Parkinson's disease.		118440	1077	1	1999												
118325	Y	panic disorder	PSYCH	PSY	Panic Disorder	3	3p22-p21.3	CCK	42274321	42282666		Garvey MJ et al. 1998	9754694				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Psychiatry research. 1998 Aug;80(2):149-53	An association of NAG levels and a mutation of the CCK gene in panic disorder patients.		118440	1078	1	1998												
118326		schizophrenia	PSYCH	PSY	Panic Disorder|Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666		Hattori E et al. 2001	11443535				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Molecular psychiatry. 2001 Jul;6(4):465-70	Identification of a compound short tandem repeat stretch in the 5'-upstream region of the cholecystokinin gene and its association with panic disorder but not with schizophrenia.		118440	1079	1	2001	These findings suggest that the novel STR or a nearby variant may confer susceptibility to the development of panic disorder.	Control:252 not specified in abstract;Case:305:schizophrenics;Case:73 panic patients										
118319	N	schizophrenia	PSYCH	PSY	Disease Susceptibility|Bipolar Disorder|Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666	n	Bowen T et al. 1998	9491815				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Molecular psychiatry. 1998 Jan;3(1):67-71	Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder.		118440	1072	1	1998												
118320	N	panic disorder	PSYCH	PSY	Panic Disorder	3	3p22-p21.3	CCK	42274321	42282666	n	Hamilton SP et al. 2001	11244486				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Molecular psychiatry. 2001 Jan;6(1):59-65	No association or linkage between polymorphisms in the genes encoding cholecystokinin and the cholecystokinin B receptor and panic disorder.		118440	1073	1	2001												
118321		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	3	3p22-p21.3	CCK	42274321	42282666		Okubo T et al. 2001	11513220				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			Journal of studies on alcohol. 2001 Jul;62(4):413-21	Polymorphisms of the CCK CCKAR and CCKBR genes: an association with alcoholism study.		118440	1074	1	2001	 Our data suggest that polymorphisms of the CCK, CCKAR and CCKBR genes do not play a major role in alcohol withdrawal symptoms (even though significant associations were found among polymorphisms at the -388 and -333 loci of the CCKAR gene and hallucinations, the rate was nonsignificant after Bonferroni correction).											
118322	N	mood disorders	PSYCH	PSY	Mood Disorders	3	3p22-p21.3	CCK	42274321	42282666		Hattori E et al. 2002	12116188				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Japanese		KGB	885	Hs.458426			American journal of medical genetics. 2002 Jul;114(5):523-6	Association study of the short tandem repeat in the 5' upstream region of the cholecystokinin gene with mood disorders in the Japanese population.		118440	1075	1	2002	These data suggest that the CCK promoter STR is unlikely to have a major genetic effect on the development of mood disorders in the Japanese population.	Case:165 subjects with mood disorders consisting of unipolar and bipolar disorders;Control:253:controls										
118315		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	21	21q22.3	CBS	43346369	43369493		Pallaud, C.  et al. 2001	11341749				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		France|Italy	CDC GDPinfo	875	Hs.533013			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		236200	27689	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
118316		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	21	21q22.3	CBS	43346369	43369493		Zee, R. Y.  et al. 2002	12082592				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		236200	28135	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
118317	N	Alcohol Withdrawal	CHEMDEPENDENCY	CHEM	Substance Withdrawal Syndrome	3	3p22-p21.3	CCK	42274321	42282666	n	Okubo T 1999	10235270	-45T in the promoter region		5`promoter	Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	Japanese		KGB	885	Hs.458426			Alcoholism, clinical and experimental research. 1999 Apr;23(4 Suppl):11S-12S			118440	1070	1	1999		Case:174; Control:195										
118312		longevity	AGING	AGE		21	21q22.3	CBS	43346369	43369493		Xia, Y.  et al. 2003	12889841				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	French		CDC GDPinfo	875	Hs.533013			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		236200	24102	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
118313		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	21	21q22.3	CBS	43346369	43369493		Pallaud, C.  et al. 2001	11359462				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		236200	26803	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
118314		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	21	21q22.3	CBS	43346369	43369493		Pallaud, C.  et al. 2001	11575217				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	French		CDC GDPinfo	875	Hs.533013			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		236200	26804	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
118309		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Le Marchand, L.  et al. 2002	12020105				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		United States	CDC GDPinfo	875	Hs.533013			Cancer causes & control. 2002 Apr;13(3):239-48	B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).		236200	18419	2	2002	 This study provides additional evidence for a decreased CRC risk for subjects with the MTHFR 677T allele, particularly at high levels of folate and vitamin B6 intake. Our data also suggest that the relationships between CRC and the MTHFR A1298C and CBS 844ins68 polymorphisms warrant further study.	Case:727 colorectal cancer cases of Japanese, Caucasian, or Native Hawaiian origin;Control:727 controls matched on sex, age, and ethnicity										
118310		homocysteine	METABOLIC	MET	Hyperhomocysteinemia|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Kluijtmans, L. A.  et al. 2003	12642343				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Blood. 2003 Apr;101(7):2483-8	Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.		236200	18420	2	2003	Our study indicates that dietary factors are centrally important in the control of tHcy levels in young adults with additional, but somewhat weaker, genetic effects. These data underscore the potential benefits that may be gained by improving the dietary status of young adults, and provide support for the implementation of folate/B-vitamin food fortification programs.	Cohort 452 young adults 	folate Vitamin B12									
118306		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Beyer, K.  et al. 2004	15975077				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Current Alzheimer research. 2004 May;1(2):127-33	Cystathionine beta synthase as a risk factor for Alzheimer disease.		236200	15608	2	2004				MTHFR		MS		CBS	844ins68 mutation and VNTR allele 19		age 75 years or more	hyperhomocysteinemia in Alzheimer's disease
118307		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	21	21q22.3	CBS	43346369	43369493		Rubini, M.  et al. 2005	16007597	844ins68			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		Italy	CDC GDPinfo	875	Hs.533013			American journal of medical genetics Part A. 2005 Aug;136(4):368-72	Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate.		236200	15609	2	2005												
118308		myocardial infarction; brain infarction	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Cardiovascular Diseases|Myocardial Ischemia	21	21q22.3	CBS	43346369	43369493		Dai, C.  et al. 2001	11758232				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	Chinese		CDC GDPinfo	875	Hs.533013			Zhonghua xue ye xue za zhi. 2001 Sep;22(9):484-7	[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]		236200	18360	2	2001	 Gene mutations as CBS 844ins 68, MS A2756G and MTHFR C677T may not be independent risk factors for ischemic cardiovascular and cerebrovascular disease in Southern Chinese Han population. The prevalences of CBS 844ins 68 and MS A2756G may vary with different ethnic groups or geographic regions.	Control:100 Southern Chinese Han healthy controls;Case:102 patients with brain infarction;Case:73 Southern Chinese Han patients with myocardial:infarction										
118303	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Grossmann, R.  et al. 2002	12439143				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Blood coagulation & fibrinolysis. 2002 Oct;13(7):583-90	Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease		236200	15603	2	2002	In conclusion, in younger adults the FVL mutation is a risk factor for cerebrovascular disease. FIIM, the MTHFR TT677 genotype and the CBS 844ins68 mutation did not contribute to the risk in this group of patients. The EPCR 4031ins23 mutation is very rare, its possible role needs further investigation.	Control:186 healthy age-matched and sex-matched blood donors;Case:93 patients younger than 50 years old with thromboembolic strokes or transient ischemic:attacks										
118304		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	21	21q22.3	CBS	43346369	43369493		Zhao, R.  et al. 2000	12725044				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Wei sheng yan jiu. 2000 Jan;29(1):50-1	[Study on genotypes of cystathionine beta-synthase in neural tube defects]		236200	15604	2	2000	The data suggests that the mother's genotype is not the direct factor involved in the pathogenesis of NTDs.	Control:36 nonpregnant women controls who had previously normal offspring;Case:40 nonpregnant women who had given birth to infants with NTDs										
118305		myocardial infarction; brain infarction	CARDIOVASCULAR	CARD	Homocystinuria	21	21q22.3	CBS	43346369	43369493		Zoossmann-Diskin, A.  et al. 2004	15228193	844ins68			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		Israel	CDC GDPinfo	875	Hs.533013			Anthropol Anz. 2004 Jun;62(2):147-55	844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world.		236200	15606	2	2004	This distribution of the insertion does not follow a recognised pattern of any known colonisation process. Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled.	Cohort 1,087 randomly chosen subjects from Israel (twelve Jewish communities and Palestinians) 										
118300		homocystinuria	METABOLIC	MET	Homocystinuria	21	21q22.3	CBS	43346369	43369493		Sokolova, J.  et al. 2001	11748855				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		Czech Republic	CDC GDPinfo	875	Hs.533013			Human mutation. 2001 Dec;18(6):548-9	Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical andmolecular genetic screening for homocystinuric alleles.		236200	15600	2	2001	In conclusion, homocystinuria in Central Europe may be sufficiently common to consider sensitive newborn screening programs for this disease.	Cohort Czech and Slovak Republic screening 										
118301		lung cancer; breast cancer; colorectal cancer	CANCER	CAN	Neoplasms|Adenocarcinoma|Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Paz, M. F.  et al. 2002	12154064				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Cancer research. 2002 Aug;62(15):4519-24	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.		236200	15601	2	2002	The existence of these associations may provide another example of the interplay between genetic and epigenetic factors in the cancer cell.	Cohort 233 cancer patients 										
118302		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	21	21q22.3	CBS	43346369	43369493		Grossmann, R.  et al. 2002	12413583	844ins68			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Thrombosis research. 2002 Jul;107(2-Jan):13-5	CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis.		236200	15602	2	2002	In conclusion, MTHFR TT677 does not appear to be an important risk factor for DVT, EPCR 403ins23 seems to be very rare, its role in the development of DVT unclear. A putative protective effect of CBS 844ins68 should be further investigated.	Case:300 consecutive deep vein thrombosis patients;Control:410 healthy blood donors										
118297		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Shen, M.  et al. 2005	15922487				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	Chinese		CDC GDPinfo	875	Hs.533013			Lung cancer (Amsterdam, Netherlands). 2005 Sep;49(3):299-309	Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.		236200	13759	2	2005	In summary, three genetic variants in folate metabolism genes are associated with an increased risk of lung cancer in Xuan Wei, China.	Control:122 matched controls;Case:122 incident primary lung cancer cases Xuan Wei, China										
118298		homocysteine	METABOLIC	MET		21	21q22.3	CBS	43346369	43369493		Dekou, V.  et al. 2001	11204591				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Thrombosis and haemostasis. 2001 Jan;85(1):67-74	Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men.		236200	15596	2	2001	This interaction between CBS genotype and MTHFR and MS genotype points to a key role of the CBS transulphuration pathway in the metabolism of homocysteine that may be particularly important as a compensatory mechanism in subjects with low dietary folate.	Control:1,470 Healthy middle-aged men from eight general practices across Britain:Britain	folate smoking (tobacco) Vitamin B12	MTHFR	V222	CBS	68bp	MS	D919	Y	"Age, folate, B12 and smoking "	plasma homocysteine levels
118299	Y	hyperhomocystinemia; cystathionine beta-synthase deficiency	OTHER	OTH	Arterial Occlusive Diseases	21	21q22.3	CBS	43346369	43369493		Lievers, K. J.  et al. 2001	11528503				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			European journal of human genetics. 2001 Aug;9(8):583-9	A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.		236200	15598	2	2001	The 31 bp VNTR in the CBS gene is associated with post-methionine load hyperhomocysteinaemia that may predispose individuals to an increased risk of cardiovascular diseases.	Case:190 patients with arterial occlusive disease;Control:381 controls, not otherwise specified in abstract										
118293		mental retardation	DEVELOPMENTAL	DEV		21	21q22.3	CBS	43346369	43369493			16375773	833T>C, 844ins68			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Behavioral and brain functions [electronic resource] :  BBF. 2005 ;1:25	Cystathionine beta-synthase T833C/844INS68 polymorphism: A family-based study on mentallyretarded children		236200	9028	2	2005												
118294	Y	cervical artery dissection, spontaneous	CARDIOVASCULAR	CARD	Vertebral Artery Dissection	21	21q22.3	CBS	43346369	43369493		Konrad, C.  et al. 2004	15503105	G1958A			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Journal of neurology. 2004 Oct;251(10):1242-8	Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections		236200	12532	2	2004	These data suggest that elevated homocysteine is associated with the occurrence of sCAD. The MTHFR C677T polymorphism is associated with the homocysteine level.	Control:95 age- and sex-matched healthy individuals;Case:95 patients with past spontaneous cervical artery:dissections										
118295		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	21	21q22.3	CBS	43346369	43369493		Krajinovic, M.  et al. 2005	16013960				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Pharmacogenomics. 2005 Apr;6(3):293-302	Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.		236200	12597	2	2005			radiation									
118290		mental retardation	DEVELOPMENTAL	DEV		21	21q22.3	CBS	43346369	43369493		Griffioen, P. H.  et al. 2005	15748616	833T>C, 844ins68			Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Clinica chimica acta; international journal of clinical chemistry. 2005 Apr;354(2-Jan):191-4	Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine beta-synthase gene.		236200	9025	2	2005	 The developed PCR-RFLP method is able to detect the 833T>C mutation, the 833T>C/844ins68 polymorphism as well as a new 9276G>A mutation in intron 8. Further study should explore the effect of the isolated 9276G>A mutation.	Cohort 500 Caucasian volunteers 										
118291	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	21	21q22.3	CBS	43346369	43369493		Gutierrez, J. I.  et al. 2005	15755387				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Med Clin (Barc). 2005 Mar;124(8):281-4	[Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease]		236200	9026	2	2005	 We did not find any indication that genetic variation in the CBS and MTHFR genes are associated with homocysteine-related risk of CVD, hence needing further investigation. The contributions to total plasma homocysteine levels of the common mutations of genes coding for the enzymes controlling homocysteine metabolism are modest.	Control:159:controls;Case:64 patients with cerebral vascular disease										
118292	Y	cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis	21	21q22.3	CBS	43346369	43369493		Shao, Y.  et al. 2005	15772012				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Di yi jun yi da xue xue bao. 2005 Mar;25(3):351-3	[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis]		236200	9027	2	2005	 Common mutations in CBS G919A and CBS T833C lead to hyperhomocysteinemia, which, instead of common mutations in CBS, is more directly associated with increased risk of cerebral thrombosis.	Control:80 contol subjects;Case:87 patients with first-ever acute cerebral thrombosis										
118287	N	hyperhomocysteinemia	METABOLIC	MET	Vascular Diseases|Hyperhomocysteinemia|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Lievers, K. J.  et al. 2003	12529702				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			European journal of human genetics. 2003 Jan;11(1):23-9	Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.		236200	9022	2	2003	In conclusion, we did not find any indication that genetic variation in the CBS gene is associated with increased homocysteine concentrations.	Case:190 patients with arterial occlusive disease;Control:381:controls										
118288		homocysteine	METABOLIC	MET	Neural Tube Defects|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Afman, L. A.  et al. 2003	12649066				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Molecular genetics and metabolism. 2003 Mar;78(3):211-5	Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.		236200	9023	2	2003	 The present study indicates that the number of 31 bp repeat elements in the CBS gene influences tHcy levels. This VNTR seems not to be associated with an increased risk for NTD.	Control:505:controls;Case:88/100/88 neural tube defect patients (n=88), mothers (n=100) and fathers (n=88)		CBS	VNTR	MTHFR	677C > T			Y	vitamin B6	neural tube defects
118289	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	21	21q22.3	CBS	43346369	43369493		Fang, L.  et al. 2004	15009965				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		China	CDC GDPinfo	875	Hs.533013			Zhongguo wei zhong bing ji jiu yi xue. 2004 Mar;16(3):161-4	[Relationship between polymorphisms of cystathionine beta-synthase gene and stroke]		236200	9024	2	2004	 T27796C mutation in CBS is not obviously correlated with stroke and this mutation is not associated with categories of stroke.	Case:59 Chinese stroke cases;Control:65 healthy controls										
118284	Y	reduced CBS activity and elevated post-load homocysteine levels	OTHER	OTH	Arterial Occlusive Diseases	21	21q22.3	CBS	43346369	43369493		Lievers KJ et al. 2001	11528503				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			KGB	875	Hs.533013			European journal of human genetics. 2001 Aug;9(8):583-9	A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.		236200	1069	1	2001	The 31 bp VNTR in the CBS gene is associated with post-methionine load hyperhomocysteinaemia that may predispose individuals to an increased risk of cardiovascular diseases.	Case:190 patients with arterial occlusive disease;Control:381 controls, not otherwise specified in abstract										
118285	N	cerebrovascular disease; coronary artery disease, occlusive	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Coronary Artery Disease|Myocardial Infarction|Arterial Occlusive Diseases|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Zhang, G.  et al. 2001	11672761				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	Chinese	China	CDC GDPinfo	875	Hs.533013			Thrombosis research. 2001 Nov;104(3):187-95	Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.		236200	9020	2	2001	Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. However, CBS 844ins68 may be a protective factor against vascular thromboembolic disease. The prevalence of CBS 844ins68 and MS A2756G in Chinese population is obviously lower than in Western Caucasian population.	Control:100 healthy controls;Case:102 patients with ischemic stroke;Case:73 patients with myocardial infarction										
118286		hyperhomocystinemia	METABOLIC	MET	Brain Ischemia|Myocardial Ischemia	21	21q22.3	CBS	43346369	43369493		Zhang, G.  et al. 2002	12015064				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Zhonghua xue ye xue za zhi. 2002 Mar;23(3):126-9	[Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases]		236200	9021	2	2002	 Hyperhomocysteinemia is an important risk factor for ischemic cerebrovascular and cardiovascular disease. The homozygosity of MTHFR C677T may contribute to the increase of plasma Hcy and vascular damage.	Control:80 healthy controls;Case:86/66 86 patients with cerebral infarction, 66 with myocardial infarction										
118280	Y	mild homocystinuria	OTHER	OTH	Homocystinuria	21	21q22.3	CBS	43346369	43369493		Shih VE et al. 1995	7611293				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			KGB	875	Hs.533013			American journal of human genetics. 1995 Jul;57(1):34-9	A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.		236200	1065	1	1995												
118282	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	21	21q22.3	CBS	43346369	43369493		Orendac M et al. 1999	10399104				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			KGB	875	Hs.533013			Journal of inherited metabolic disease. 1999 Jun;2	Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?		236200	1067	1	1999												
118283	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	21	21q22.3	CBS	43346369	43369493		Kruger WD et al. 2000	10833331				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			KGB	875	Hs.533013			Molecular genetics and metabolism. 2000 May;70(1):53-60	Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid.		236200	1068	1	2000												
118277		acute myelogenous leukemia-M4	CANCER	CAN	Leukemia, Myelomonocytic, Acute|Inversion, Chromosome	16	16q22.1	CBFB	65620550	65692459		Batanian JR et al. 2000	11063812				Core-binding factor, beta subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022845.2			KGB	865	Hs.460988			Cancer genetics and cytogenetics. 2000 Sep;121(2):216-9	Deletion of 3'-CBFB gene in association with an inversion (16)(p13q22) and a loss of the Y chromosome in a 2-year-Old child with acute myelogenous leukemia-M4.		121360	1062	1	2000												
118278		leukemia	CANCER	CAN	Leukemia, Myeloid|Acute Disease	16	16q22.1	CBFB	65620550	65692459		Hajra A et al. 1995	7607682				Core-binding factor, beta subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022845.2			KGB	865	Hs.460988			Genomics. 1995 Apr;26(3):571-9	Structure of the leukemia-associated human CBFB gene.		121360	1063	1	1995												
118279	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3q13.11	CBLB	106859798	107070577		Bergholdt R et al. 2005	15629882	CBLB exon 12 SNP (rs3772534			Cas-Br-M (murine) ecotropic retroviral transforming sequence b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170662.3	Danish		KGB	868	Hs.430589			Journal of leukocyte biology. 2005 Apr;77(4):579-85	CBLB variants in type 1 diabetes and their genetic interaction with CTLA4.		604491	1064	1	2005		Case:480 families										
118273		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Esfandiary, H.  et al. 2005	15774926				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		115500	20643	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
118274		alcohol abuse	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism	11	11p13	CAT	34417053	34450183		Kee, J. Y.  et al. 2003	12824748				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Taehan Kan Hakhoe chi. 2003 Jun;9(2):89-97	[Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors]		115500	24101	2	2003	 These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.	Case:12/30 heavy drinkers (n=12) and alcoholic liver cirrhosis:patients (n=30);Control:42 healthy controls										
118275	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q31.1	CAV1	115952074	115988466		Haeusler, J.  et al. 2005	15948133				Caveolin 1, caveolae protein, 22kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001753.3			CDC GDPinfo	857	Hs.74034			The Prostate. 2005 Oct;65(2):171-7	Association of a CAV-1 haplotype to familial aggressive prostate cancer.		601047	15594	2	2005	 This is the first report providing evidence for CAV-1 being involved in predisposition to aggressive prostate cancer. The association of a potential risk haplotype agrees well with a role of CAV-1 in tumor progression but needs further confirmation.											
118269		breast cancer	CANCER	CAN	Breast Neoplasms	11	11p13	CAT	34417053	34450183		Ahn, J.  et al. 2005	16192345				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2		New York	CDC GDPinfo	847	Hs.502302			American journal of epidemiology. 2005 Nov;162(10):943-52	Associations between breast cancer risk and the catalase genotype, fruit and vegetable consumption, and supplement use.		115500	15593	2	2005			diet fruit vegetables vitamin supplements									
118270	Y	diabetic neuropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	11	11p13	CAT	34417053	34450183			15125229				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Molekuliarnaia biologiia. 2004 Mar-Apr;38(2):244-9	[Search for the association of polymorphic markers for genes coding for antioxidant defense enzymes, with development of diabetic polyneuropathies in patients with type 1 diabetes mellitus]		115500	16987	2	2004	On this evidence, these markers were not associated with DPN in the sample examined.	Case:86 patients with type 1 diabetes with polyneuropathy and diabetic record no more than 5 years;Control:94 diabetic patients without polyneuropathy and diabetic record of at least 10 years										
118271		hyperkeratosis	CANCER	CAN	Arsenic Poisoning|Keratosis|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Ahsan, H.  et al. 2003	14580687				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2		Bangladesh	CDC GDPinfo	847	Hs.502302			Cancer letters. 2003 Nov;201(1):57-65	Susceptibility to arsenic-induced hyperkeratosis and oxidative stress genes myeloperoxidase and catalase.		115500	18344	2	2003	Our findings, although based on small numbers, suggest that the oxidative stress genes MPO and CAT may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions.	Case individuals with arsenic-induced hyperkeratotic skin lesions;Control:controls										
118272		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183			16385446				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			American journal of human genetics. 2006 Jan;78(1):15-27	A testing framework for identifying susceptibility genes in the presence of epistasis		115500	18700	2	2006												
118266	Y	erythrocyte catalase activity	OTHER	OTH		11	11p13	CAT	34417053	34450183	<0.0001	Nadif, R.  et al. 2005	16298864	C to T at -262	Lower catalase activity	5'promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	coal miners		CDC GDPinfo	847	Hs.502302			Free radical research. 2005 Dec;39(12):1345-50	Association of CAT polymorphisms with catalase activity and exposure to environmental oxidative stimuli.	1001179	115500	14371	2	2005	CAT -262 and LTA NcoI SNPs, and interaction with coal dust exposure influenced catalase activity		coal mine dust	TNF	A to G at -308	LTA	NcoI			N	Y	
118267		vitiligo	OTHER	OTH	Vitiligo|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Casp, C. B.  et al. 2002	11837458				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Pigment cell research. 2002 Feb;15(1):62-6	Genetic association of the catalase gene (CAT) with vitiligo susceptibility.		115500	15591	2	2002	The CAT gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.	Case Caucasian vitiligo patients;Control controls not specified in abstract										
118268	N	diabetes, type 2; retinopathy, diabetic; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Retinopathy|Diabetic Nephropathies	11	11p13	CAT	34417053	34450183			12469627				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Ter Arkh. 2002 ;74(10):28-30	[Associative analysis of the connection between mutation C1167T in the catalase gene and polymorphic marker D6S392 nearby the Mn-dependent superoxide dismutase gene with diabetic microangiopathies]		115500	15592	2		 C1167 polymorphism in the CAT gene and D6S366 near the SOD2 gene are not associated with the development of diabetic nephropathy and diabetic retinopathy in IDDM.	Case:30 insulin-dependent diabetic (IDDM) patients with diabetic retinopathy;Case:36 insulin-dependent diabetic (IDDM) patients with diabetic nephropathy;Control:44 insulin-dependent diabetic (IDDM) patients without diabetic retinopathy;Control:56 insulin-dependent diabetic (IDDM) patients without diabetic nephropathy										
118262	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease	11	11p13	CAT	34417053	34450183		Rahman, S. H.  et al. 2004	15131792				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Gastroenterology. 2004 May;126(5):1312-22	Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis		115500	14023	2	2004	 The functional GSTT-1*A genotype was associated with severe attacks of pancreatitis. Heightened oxidative stress characterized by glutathione depletion may be of importance in mediating the progression from mild to severe pancreatitis.	Control:263:controls;Case:320 patients with acute pancreatitis										
118263		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Ambrosone, C. B.  et al. 2005	15705913				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Cancer research. 2005 Feb;65(3):1105-11	Polymorphisms in genes related to oxidative stress (MPO, MnSOD, CAT) and survival after treatment for breast cancer.		115500	14037	2	2005	These data indicate that gene variants that impact oxidative stress modify prognosis after treatment for breast cancer.	Cohort 279 women treated with radiation and/or chemotherapy for incident breast cancer at the Arkansas Cancer Research Center 1985 - 1996 										
118264		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	11	11p13	CAT	34417053	34450183		Rahman, S. H.  et al. 2005	16047490				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Digestive diseases and sciences. 2005 Jul;50(7):1376-83	Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress andimpaired antioxidant capacity.		115500	14046	2	2005	We conclude that  the GSTT-1 functional genotype is associated with ICP. Evidence of altered glutathione redox status suggests that this disease modification may be a consequence of oxidative stress or the bioactivation of xenobiotics.											
118257	Y	blood catalase levels	UNKNOWN	UNK		11	11p13	CAT	34417053	34450183		Forsberg, L.  et al. 2001	11182520			promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Swedish		CDC GDPinfo	847	Hs.502302			Free radical biology & medicine. 2001 Mar;30(5):500-5	A common functional C-T substitution polymorphism in the promoter region of the human catalase gene influences transcription factor binding, reporter gene transcription and is correlated to blood catalase levels		115500	9014	2	2001	we report here the first common (allele frequency in a Swedish population, 28%) genetic variant in a fundamental oxidative stress protection gene with a defined phenotype.	Cohort 10 unspecified study group 										
118258	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11p13	CAT	34417053	34450183		Jiang, Z.  et al. 2001	11479740			promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2		China	CDC GDPinfo	847	Hs.502302			Human genetics. 2001 Jul;109(1):95-8	A polymorphism in the promoter region of catalase is associated with blood pressure levels		115500	9015	2	2001	This is the first study to implicate genetic variation in catalase in susceptibility to EHYT and suggests that polymorphisms in promoter regions may be particularly relevant to the study of complex diseases.	Cohort 324 individuals (at least 50 years old) who were randomly sampled from an isolated population Xiangchang, China Xiangchang, China 										
118260		longevity	AGING	AGE		11	11p13	CAT	34417053	34450183		Christiansen, L.  et al. 2004	15472150	-262C/T		promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			The journals of gerontology Series A, Biological sciences and medical sciences. 2004 Sep;59(9):B886-9	The catalase -262C/T promoter polymorphism and aging phenotypes.		115500	9017	2	2004	The results raise the hypothesis that the catalase -262T allele serves as protection against NEUROLOGICALenerative and physical decline, although replication in other studies is warranted for confirmation of these findings.	Cohort 2,223 Danish individuals, aged 45-93 years, drawn from three population-based surveys 										
118253		diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Hypertension|Diabetes Mellitus, Type 2	11	11p13	CAT	34417053	34450183		Sergeeva TV 2001	11357375				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			Y Wang	847	Hs.502302	Complications		Genetika. 2001 Mar;37(3):418-21	Polymorphism of catalase and glutathione peroxidase genes in macrovascular complications in patients with non-insulin-dependent diabetes mellitus and hypertension , trans Polimorfizm genov katalazy i glutationperoksidazy i makrososudistye oslozhneniia u b		115500	1056	1	2001												
118254		diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Hypertension|Diabetes Mellitus, Type 2	11	11p13	CAT	34417053	34450183		Sergeeva TV 2001	11357375				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			Y Wang	847	Hs.502302	Complications		Genetika. 2001 Mar;37(3):418-21	Polymorphism of catalase and glutathione peroxidase genes in macrovascular complications in patients with non-insulin-dependent diabetes mellitus and hypertension , trans Polimorfizm genov katalazy i glutationperoksidazy i makrososudistye oslozhneniia u b		115500	1057	1	2001												
118255	N	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11p13	CAT	34417053	34450183		Ukkola O 2001	11350569				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			Y Wang	847	Hs.502302	Complications		Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		115500	1058	1	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.											
118249	Y	vitiligo susceptibility	OTHER	OTH	Vitiligo|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Casp CB et al. 2002	11837458				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			KGB	847	Hs.502302			Pigment cell research. 2002 Feb;15(1):62-6	Genetic association of the catalase gene (CAT) with vitiligo susceptibility.		115500	1052	1	2002	The CAT gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.	Case Caucasian vitiligo patients;Control controls not specified in abstract										
118251	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	CAT	34417053	34450183		Goulas A et al. 2002	12231449				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			KGB	847	Hs.502302			Neuroscience letters. 2002 Sep;330(2):210-3	An association study of a functional catalase gene polymorphism -262C-->T and patients with Alzheimer's disease.		115500	1054	1	2002	We conclude that  the catalase gene -262C-->T polymorphism does not confer a protective effect with respect to AD.	Control:130 control individuals;Case:137 Alzheimer's disease patients										
118252		arsenic-induced hyperkeratosis	CANCER	CAN	Arsenic Poisoning|Keratosis|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Ahsan H 2003	14580687				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2		Bangladesh	KGB	847	Hs.502302			Cancer letters. 2003 Nov;201(1):57-65	Susceptibility to arsenic-induced hyperkeratosis and oxidative stress genes myeloperoxidase and catalase.		115500	1055	1	2003	Our findings, although based on small numbers, suggest that the oxidative stress genes MPO and CAT may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions.	Case individuals with arsenic-induced hyperkeratotic skin lesions;Control:controls										
118246		bone density	METABOLIC	MET	Osteoporosis	3	3q21-q24	CASR	123385219	123488032		Dvornyk, V.  et al. 2003	12914574				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Chinese		CDC GDPinfo	846	Hs.435615			Annals of human genetics. 2003 May;67(Pt 3):216-27	Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for EthnicDifference of Bone Mass		601199	20641	2	2003	If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.	Cohort 1,131 randomly selected individuals from Caucasian and Chinese populations 										
118247		bone density	METABOLIC	MET	Osteoporosis	3	3q21-q24	CASR	123385219	123488032		Dvornyk, V.  et al. 2005	16117875				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Chinese, Caucasian		CDC GDPinfo	846	Hs.435615			Chinese medical journal. 2005 Aug;118(15):1235-44	Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bonemass.		601199	20642	2	2005	 The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.											
118248		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q24	CASR	123385219	123488032		Liljedahl, U.  et al. 2003	12544508				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		601199	28331	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
118243		bone density	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032		Lau, H. H.  et al. 2005	15781005				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Chinese		CDC GDPinfo	846	Hs.435615			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		601199	16552	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
118244	Y	bone density	METABOLIC	MET	Osteoporosis	3	3q21-q24	CASR	123385219	123488032		Eckstein, M.  et al. 2002	12040821				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Jewish		CDC GDPinfo	846	Hs.435615			The Israel Medical Association journal. 2002 May;4(5):340-4	Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density.		601199	20140	2	2002	 In Israeli Jewish men and premenopausal women VDR gene alleles do not seem to be associated with lower lumbar spine or femoral neck BMD. A trend towards heterozygosity for a CaSR polymorphism missense mutation was noted in the LBMD patients. Age at menarche in the LBMD women was found to be an important predictor of BMD. A significant difference was found between LBMD women and healthy control women towards heterozygosity for a CaSR polymorphism, as well as between homozygotes and heterozygotes for a CaSR polymorphism in BMD. The significance of these findings and their applicability to a larger population awaits further studies.	Control:248 men (n=126) and women (n=112) from the general:population;Case:86 Jewish Israeli patients with idiopathic low bone										
118245		bone density	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032		Katsumata, K.  et al. 2002	11984699				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Japanese		CDC GDPinfo	846	Hs.435615			Journal of bone and mineral metabolism. 2002 ;20(3):164-9	Association of gene polymorphisms and bone density in Japanese girls.		601199	20640	2	2002	These results suggest that the Fok I polymorphism of the VDR gene and the Dra II polymorphism of the PTH gene are risk factors for low bone density in Japanese girls.	Cohort 125 healthy Japanese girls (age, 13.4 +/- 0.89 years; range, 12-15 years) 										
118240		kidney stone disease	RENAL	REN	Kidney Calculi	3	3q21-q24	CASR	123385219	123488032		Vezzoli, G.  et al. 2002	12239240				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Journal of the American Society of Nephrology. 2002 Oct;13(10):2517-23	Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients.		601199	15588	2	2002	In conclusion, CASR gene could be a component of the complex genetic background regulating Ca excretion. Arg990Gly polymorphism could facilitate activation of CaSR and increase Ca excretion and susceptibility to idiopathic hypercalciuria.	Control:101 normocalciuric healthy controls;Case:97/134 normocalciuric stone formers (n=97) and hypercalciuric stone formers (n=134)										
118241	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	3	3q21-q24	CASR	123385219	123488032		Peters, U.  et al. 2004	15598778				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2181-6	Association of genetic variants in the calcium-sensing receptor with risk of colorectal adenoma.		601199	15589	2	2004	 Variants in the CASR intracellular signaling region were significantly associated with the risk of advanced adenoma.	Case:716 individuals with advanced distal adenomas;Control:729 controls with a negative sigmoidoscopy exam										
118242	Y	hyperparathyroidism	METABOLIC	MET	Hyperparathyroidism	3	3q21-q24	CASR	123385219	123488032		Warner, J.  et al. 2004	14985373				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2		Australia	CDC GDPinfo	846	Hs.435615			Journal of medical genetics. 2004 Mar;41(3):155-60	Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.		601199	15703	2	2004	These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP.	Cohort 22 unrelated subjects with familial isolated hyperparathyroidism phenotype 										
118237	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	3	3q21-q24	CASR	123385219	123488032		Mo, X. Y.  et al. 2004	15501733	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Chinese		CDC GDPinfo	846	Hs.435615			Di yi jun yi da xue xue bao. 2004 Oct;24(10):1097-101, 1122	[A986S polymorphism of calcium-sensing receptor gene is not related to bone mineral density or bone size in premenopausal Chinese women.]		601199	9011	2	2004	 Given the important role of the CaSR in calcium metabolism, further studies with useful genetic markers may have better chances to define the association of the CaSR gene with bone phenotype variations.	Cohort 285 healthy Chinese premenopausal women (20.0 to 41.9 years of age) of Han nationality Shanghai 										
118238	Y	calcium	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032		Scillitani, A.  et al. 2004	15531522				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			The Journal of clinical endocrinology and metabolism. 2004 Nov;89(11):5634-8	Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.		601199	9012	2	2004	Our data confirm the association between iCa and the A986S locus and suggest that R990G and Q1011E are also predictive. Given the significant between-population variations in frequency of variant alleles in this CASR SNP cluster, tri-locus haplotyping may prove to be more informative in studies of association between variation in CASR and disease.	Cohort 377 unrelated adults (184 men and 193 women) recruited as healthy adults from a blood donor clinic 										
118239		hormone disturbance	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032			16218047			intron	Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Journal of endocrinological investigation. 2005 Jul-Aug;28(7):638-42	Role of intron 5 C/T polymorphism of the calcium sensing receptor gene in the regulation of the serum FSH and LH in post-menopausal women		601199	9013	2	2005	 Serum FSH and LH levels are associated with intron 5 C/T (but not A986S) polymorphism of the CaR gene in untreated post-menopausal women. The physiological role of the CaR gene in the regulation of the gonadotropic function needs to be further investigated.											
118235	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous	3	3q21-q24	CASR	123385219	123488032		Bollerslev, J.  et al. 2003	14508624	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2		Australia	CDC GDPinfo	846	Hs.435615			Calcified tissue international. 2004 Jan;74(1):7-Dec	Calcium-sensing receptor gene polymorphism A986S does not predict serum calcium level, bone mineral density, calcaneal ultrasound indices, or fracture rate in a large cohort of elderly women.		601199	9009	2	2003	In conclusion, in a large cohort of elderly women the A986S polymorphism of the CASR gene was not found to be significant for calcium homeostasis or bone mass. It is questioned whether the polymorphism has any clinical significance for postmenopausal osteoporosis.	Cohort 1252 ambulatory Australian women Australia 										
118236		hypoparathyroidism	METABOLIC	MET	Hypoparathyroidism	3	3q21-q24	CASR	123385219	123488032		Goswami, R.  et al. 2004	15472173				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			The Journal of clinical endocrinology and metabolism. 2004 Oct;89(10):4840-5	Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism.		601199	9010	2	2004	Thus, the data from this report demonstrate that in patients with sporadic idiopathic hypoparathyroidism, neither the clinical manifestations nor the biochemical indexes of the disease are related to the occurrence of mutations or SNPs in the PTH gene. Because neither patient nor control samples exhibited any variations in the sequence of their 3'-UTR regions, it is unlikely that mRNA instability is a factor in the pathogenesis of the disease. Additional studies are required to investigate the role of other genes and autoantigens that may be involved in the genesis of idiopathic hypoparathyroidism.	Case:49 patients from a group of 51 patients with sporadic idiopathic hypoparathyroidism;Control:55 healthy controls										
118231	N	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	3	3q21-q24	CASR	123385219	123488032		Takacs, I.  et al. 2002	12052452	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2		Hungary	CDC GDPinfo	846	Hs.435615			Bone. 2002 Jun;30(6):849-52	Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women.		601199	9005	2	2002	Our data do not support the idea that CaSR gene A986S polymorphism has an impact on bone mass.	Case:108 postmenopausal osteoporotic patients:Hungary;Control:122 healthy postmenopausal control women										
118232		hyperparathyroidism, primary	METABOLIC	MET	Hyperparathyroidism	3	3q21-q24	CASR	123385219	123488032		Cetani, F.  et al. 2002	12150336				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Italian	Italy	CDC GDPinfo	846	Hs.435615			Journal of endocrinological investigation. 2002 Jul-Aug;25(7):614-9	Calcium-sensing receptor gene polymorphisms in primary hyperparathyroidism.		601199	9006	2	2002	We found no significant difference in several clinical and biochemical parameters between PHPT patients carrying or not the 986S allele. Finally, no relationship was observed between the 986S genotype and total and ionized serum calcium in control subjects. The A986S CaR polymorphism is the most common in Italian PHPT patients and the allotype AS does not appear to play a relevant role in the pathogenesis of PHPT and its severity. The A986S polymorphism does not correlate with serum calcium levels in normal Italian subjects.	Case:103 Italian patients with PHPT;Control:148 healthy Italian subjects										
118233	N	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	3	3q21-q24	CASR	123385219	123488032		Young, R.  et al. 2003	12574201	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			The Journal of clinical endocrinology and metabolism. 2003 Feb;88(2):697-700	Calcium sensing receptor gene A986S polymorphism and responsiveness to calcium supplementation in postmenopausal women.		601199	9007	2	2003	We found no effect of this genetic variant in postmenopausal women at baseline or in response to calcium supplementation. These results are in contrast to those in young or premenopausal women, and they provide no support for an important role for the CASR A986S polymorphism in osteoporosis.	Cohort healthy postmenopausal women followed for 2 yr while taking placebo or supplementary calcium 	calcium									
118228	Y	hyperparathyroidism, primary	OTHER	OTH	Hyperparathyroidism	3	3q21-q24	CASR	123385219	123488032		Yamauchi, M.  et al. 2001	11589681				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Clinical endocrinology. 2001 Sep;55(3):373-9	Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism.		601199	9002	2	2001	 The present study is the first to show that CaR polymorphisms of G990R and intron 5 were closely associated with the magnitude of PTH secretion and/or PTH degradation as well as the clinical severity in pHPT patients.	Cohort 105 Japanese pHPT patients (85 females and 20 males; mean age 55.6 +/- 14.0 years) 										
118229		renal disease, end stage	RENAL	REN	Kidney Failure, Chronic|Hypercalcemia	3	3q21-q24	CASR	123385219	123488032		Yokoyama, K.  et al. 2002	11863123				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Clinical nephrology. 2002 Feb;57(2):131-5	Calcium-sensing receptor gene polymorphism affects the parathyroid response to moderate hypercalcemic suppression in patients with end-stage renal disease.		601199	9003	2	2002	 Our results suggest that CaR gene polymorphism (codon G990R) influences the responsiveness of the parathyroid gland to changes of extracellular Ca2+ in ESRD patients. The glands of patients with the GG genotype of the CaR gene may be more sensitive to extracellular Ca2+ changes.	Cohort 77 end-stage renal disease patients on regular hemodialysis 										
118230		colorectal cancer	CANCER	CAN	Rectal Neoplasms	3	3q21-q24	CASR	123385219	123488032		Speer, G.  et al. 2002	12018449	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			International journal of colorectal disease. 2002 Jan;17(1):20-4	Calcium-sensing receptor A986S polymorphism in human rectal cancer.		601199	9004	2	2002	 Our observation raises the possibility that genetic alterations of CaSR influence the pathogenesis of rectal cancer.	Control:112:controls;Case:56 patients with colorectal cancer										
118225	N	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	3	3q21-q24	CASR	123385219	123488032	n	Takacs I et al. 2002	12052452				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2		Hungary	KGB	846	Hs.435615			Bone. 2002 Jun;30(6):849-52	Lack of association between calcium-sensing receptor gene A986S polymorphism and bone mineral density in Hungarian postmenopausal women.		601199	7641	1	2002	Our data do not support the idea that CaSR gene A986S polymorphism has an impact on bone mass.	Case:108 postmenopausal osteoporotic patients:Hungary;Control:122 healthy postmenopausal control women										
118226	Y	electrolyte levels	METABOLIC	MET	Body Weight	3	3q21-q24	CASR	123385219	123488032		Cole, D. E.  et al. 2001	11161843	A986S			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			Molecular genetics and metabolism. 2001 Feb;72(2):168-74	Association between Total Serum Calcium and the A986S Polymorphism of the Calcium-Sensing Receptor Gene		601199	9000	2	2001	These data are the first to show significant association between a common polymorphism and concentrations of a serum electrolyte. The A986S polymorphism is also a potential predisposing factor in disorders of bone and mineral metabolism. Copyright 2001 Academic Press.	Cohort 387 healthy young women 										
118227		bone density	METABOLIC	MET	Body Weight	3	3q21-q24	CASR	123385219	123488032		Lorentzon, M.  et al. 2001	11248745				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDPinfo	846	Hs.435615			European journal of endocrinology. 2001 Mar;144(3):257-61	Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls.		601199	9001	2	2001	 The CASR alleles are related to BMD, but it cannot be definitely concluded whether the CASR polymorphism has a direct influence on BMD, or whether the differences in BMD were mediated via an influence of the amount of physical activity.	Cohort 97 healthy Caucasian girls (mean age 16.9+/-1.2 years (mean+/-s.d.)) 										
118222	Y	primary hyperparathyroidism	OTHER	OTH	Hyperparathyroidism	3	3q21-q24	CASR	123385219	123488032		Yamauchi M et al. 2001	11589681				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			KGB	846	Hs.435615	clinical severity		Clinical endocrinology. 2001 Sep;55(3):373-9	Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism.		601199	7637	1	2001	 The present study is the first to show that CaR polymorphisms of G990R and intron 5 were closely associated with the magnitude of PTH secretion and/or PTH degradation as well as the clinical severity in pHPT patients.	Cohort 105 Japanese pHPT patients (85 females and 20 males; mean age 55.6 +/- 14.0 years)										
118223	N	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous|Genetic Predisposition to Disease	3	3q21-q24	CASR	123385219	123488032	n	Cetani F et al. 2003	12773131				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Italian	Italy	KGB	846	Hs.435615			European journal of endocrinology. 2003 Jun;148(6):603-7	Calcium-sensing receptor gene polymorphism is not associated with bone mineral density in Italian postmenopausal women.		601199	7638	1	2003	 Our data do not support a role of A986S CaR polymorphism in BMD and in the prevalence of fragility fractures in Italian postmenopausal women.	Control:164 Italian postmenopausal women wihout fragility:fracture;Case:55 Italian postmenopausal women with fragility:fracture										
118224	Y	total serum calcium	METABOLIC	MET	Body Weight	3	3q21-q24	CASR	123385219	123488032		Cole DE et al. 2001	11161843				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			KGB	846	Hs.435615			Molecular genetics and metabolism. 2001 Feb;72(2):168-74	Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.		601199	7639	1	2001	These data are the first to show significant association between a common polymorphism and concentrations of a serum electrolyte. The A986S polymorphism is also a potential predisposing factor in disorders of bone and mineral metabolism. Copyright 2001 Academic Press.	Cohort 387 healthy young women										
118219		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	1	1p36.3-p36.1	CASP9	15689910	15723971		Watanabe, I.  et al. 2003	12732844				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2	Japanese	Japan	CDC GDPinfo	842	Hs.329502			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		602234	26802	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
118220	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21	CASQ1	158426988	158438300		Fu, M.  et al. 2004	15561962				Calsequestrin 1 (fast-twitch, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001231.3	Caucasian	United States|Utah	CDC GDPinfo	844	Hs.632476			Diabetes. 2004 Dec;53(12):3292-9	Polymorphism in the calsequestrin 1 (CASQ1) gene on chromosome 1q21 is associated with type 2 diabetes in the old order Amish.		114250	8999	2	2004	These findings, coupled with similar findings in Utah Caucasians, suggest that sequence variation in CASQ1 may influence risk of type 2 diabetes.	Case:145/148 Amish subjects with type 2 diabetes (n = 145) and impaired glucose tolerance (n = 148);Control:358 normal glucose tolerant subjects										
118221	Y	Familial hypocalciuric hypercalcemia	OTHER	OTH	Hypercalcemia	3	3q21-q24	CASR	123385219	123488032		Aida K et al. 1995	7673400				calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U20760			KGB	846	Hs.435615			J Clin Endocrinol Metab	Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.		601199	1051	1	1995												
118217		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3-p36.1	CASP9	15689910	15723971		Li, Y.  et al. 2005	16038259				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2	Chinese		CDC GDPinfo	842	Hs.329502			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2005 Jun;27(3):274-9	[Screening susceptibility genes of type 2 diabetes in Chinese population by single nucleotide polymorphism analysis]		602234	8997	2	2005	 sAC, PANK4, and CA SP9 may be associated with type 2 diabetes in Han population in north China, and it seems that the synergetic effect of these genes is responsible for the development of type 2 diabetes.											
118218		Crohn's disease	IMMUNE	IMM	Intestinal Fistula|Crohn Disease	1	1p36.3-p36.1	CASP9	15689910	15723971		Hlavaty, T.  et al. 2005	16181301				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2			CDC GDPinfo	842	Hs.329502			Alimentary pharmacology & therapeutics. 2005 Oct;22(7):613-26	Polymorphisms in apoptosis genes predict response to infliximab therapy in luminal and fistulizing Crohn's disease.		602234	8998	2	2005	 We observed that polymorphisms in FasL/Fas system and caspase-9 influence the response to infliximab in luminal and fistulizing Crohn's disease. The strongest association was seen between the Fas ligand -843 TT genotype and non-response. Concomitant mercaptopurine/azathioprine therapy, however, was able to overcome the effect of unfavourable genotypes in luminal disease.		azathioprine infliximab mercaptopurine									
118213		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP10	201755865	201802355		Frank, B.  et al. 2005	16251207	V410I			Caspase 10, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001230.4			CDC GDPinfo	843	Hs.5353			Carcinogenesis. 2005	Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.		601762	15586	2	2005												
118214	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10q25	CASP7	115428924	115480654		Babu SR et al. 2003	14679087				Caspase 7, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001227.3	Bedouin Arab family		Y Wang	840	Hs.9216			Annals of the New York Academy of Sciences. 2003 Nov;1005:340-3	Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family.		601761	1050	1	2003												
118215	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		MacPherson, G.  et al. 2004	15601643				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3		England	CDC GDPinfo	841	Hs.591630			Journal of the National Cancer Institute. 2004 Dec;96(24):1866-9	Association of a common variant of the CASP8 gene with reduced risk of breast cancer.		601763	15587	2	2004	The reproducible, dose-dependent association of CASP8 D302H with breast cancer indicates the potential importance of inherited variation in the apoptosis pathway in breast cancer susceptibility.	Case:2,192 breast cancer cases from East Anglia:UK;Control:2,262 controls from East Anglia;Control:996 controls from Sheffield;Case:999 breast cancer cases from Sheffield:UK										
118210	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q13.2	CART	71050750	71052628		Fu, M.  et al. 2002	12654232				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2	Chinese		CDC GDPinfo	9607	Hs.1707			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Dec;41(12):805-8	[Association of the cocaine and amphetamine-regulated transcript gene with type 2 diabetes mellitus]		602606	15584	2	2002	 Polymorphism was found in the 3'-untranslated region (Delta A1457) of CART in Chinese. A deletion in CART is not associated with type 2 diabetes, but may contribute to dyslipidemia.	Control:180 normoglycemic controls;Case:221 patients with type 2 diabetes										
118211		obesity	METABOLIC	MET	Obesity	5	5q13.2	CART	71050750	71052628		Guerardel, A.  et al. 2005	15823203				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2	Caucasian		CDC GDPinfo	9607	Hs.1707			BMC genetics [electronic resource]. 2005 Apr;6(1):19	Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population.		602606	15585	2	2005	 CART SNP -3608T>C may possibly contribute to the genetic risk for obesity in the Caucasian population. However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations.	Case:292 French modbidly obese subjects;Control:368:controls										
118212		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	5	5q13.2	CART	71050750	71052628		Loos, R. J.  et al. 2004	15597110				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2		Quebec	CDC GDPinfo	9607	Hs.1707			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		602606	20638	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
118207	Y	schizophrenia; alcoholism; bipolar disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	5	5q13.2	CART	71050750	71052628		Jung, S. K.  et al. 2004	15234472			intron	Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2	Korean	Korea	CDC GDPinfo	9607	Hs.1707			Neuroscience letters. 2004 Jul;365(1):54-7	Association between polymorphism in intron 1 of cocaine- and amphetamine-regulated transcript gene with alcoholism, but not with bipolar disorder and schizophrenia in Korean population.		602606	8996	2	2004	In conclusion, we report for the first time that the AvaII polymorphism (rs2239670) in intron 1 of the CART gene is associated with alcoholism in the Korean male population.	Case:100/76/169 patients of alcoholism (n=100), bipolar disorder (n=76) and schizophrenia (n=169) from the Korean:population:Korea;Control:333 healthy controls										
118208		obesity	METABOLIC	MET	Obesity	5	5q13.2	CART	71050750	71052628		del Giudice, E. M.  et al. 2001	11522684				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			CDC GDPinfo	9607	Hs.1707			Diabetes. 2001 Sep;50(9):2157-60	Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe)associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.		602606	15582	2	2001	The Leu34Phe mutation might alter the susceptibility to proteolysis of this potential processing site, likely altering the CART effect on thermogenesis and energy expenditure.	Cohort 130 (72 girls) unrelated obese children and adolescents Italy 										
118209	Y	obesity	METABOLIC	MET	Obesity	5	5q13.2	CART	71050750	71052628		Yamada, K.  et al. 2002	11791158			promoter	Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			CDC GDPinfo	9607	Hs.1707			International journal of obesity and related metabolic disorders. 2002 Jan;26(1):132-6	Sequencing of the putative promoter region of the cocaine- and amphetamine-regulated-transcript gene and identification of polymorphic sites associated with obesity		602606	15583	2	2002	 The 5(')-flanking region of the CART gene was highly polymorphic. The -156 polymorphism or polymorphisms in linkage disequilibrium with the site may be associated with genetic predisposition to obesity.	Cohort 528 subjects (325 men and 203 women) aged 49.6+/-11.0 y with body mass index (BMI) of 26.9+/-5.1 										
118204		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q13.2	CART	71050750	71052628		Fu M 2002	12654232				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2	Chinese		Y Wang	9607	Hs.1707			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Dec;41(12):805-8	Association of the cocaine and amphetamine-regulated transcript gene with type 2 diabetes mellitus		602606	6640	1	2002	 Polymorphism was found in the 3'-untranslated region (Delta A1457) of CART in Chinese. A deletion in CART is not associated with type 2 diabetes, but may contribute to dyslipidemia.	Control:180 normoglycemic controls;Case:221 patients with type 2 diabetes										
118205	Y	obesity	METABOLIC	MET	Obesity	5	5q13.2	CART	71050750	71052628		del Giudice EM et al. 2001	11522684				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			KGB	9607	Hs.1707			Diabetes. 2001 Sep;50(9):2157-60	Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.		602606	6641	1	2001	The Leu34Phe mutation might alter the susceptibility to proteolysis of this potential processing site, likely altering the CART effect on thermogenesis and energy expenditure.	Cohort 130 (72 girls) unrelated obese children and adolescents Italy										
118206	Y	hypertension; blood pressure	CARDIOVASCULAR	CARD	Hypertension	5	5q13.2	CART	71050750	71052628		Yamamoto, N.  et al. 2002	11857741				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			CDC GDPinfo	9607	Hs.1707			Human mutation. 2002 Mar;19(3):251-7	Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension.		602606	8995	2	2002	These findings support involvement of ALAP in the regulation of blood pressure.	Case:143 hypertension patients;Control:348 normotensive subjects:Cohort:48 unrelated Japanese individuals										
118200		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Braat, H.  et al. 2005	16010583				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Journal of molecular medicine (Berlin, Germany). 2005 Aug;83(8):601-9	Consequence of functional Nod2 and Tlr4 mutations on gene transcription in Crohn's disease patients.		605956	19881	2	2005												
118201		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488			16393227				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Italian	Italy	CDC GDPinfo	64127	Hs.592072			The American journal of gastroenterology. 2005 Dec;100(12):2730-6	Intestinal permeability and genetic determinants in patients, first-degree relatives, and controls in a high-incidence area of Crohn's disease in southern Italy		605956	19885	2	2005	 There was no association between IP and genetic markers. Our findings showed a very high proportion of healthy first-degree relatives to bare alterations suggested to constitute determinants of CD. Mutations of NOD2/CARD15 or TLR-4, however, do not lead to permeability defects emphasizing the importance of additional environmental and/or genetic factors for pathogenesis.											
118203		asthma	IMMUNE	IMM	Inflammatory Bowel Diseases|Asthma|Inflammation	7	7p15-p14	NOD1	30430674	30484790		Hysi, P.  et al. 2005	15718249				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDPinfo	10392	Hs.405153			Human molecular genetics. 2005 Apr;14(7):935-41	NOD1 variation, immunoglobulin E and asthma.		605980	18567	2	2005	The results indicate that intracellular recognition of specific bacterial products affects the presence of childhood asthma.	Control:1,194 super-nomal controls;Case:600 asthmatic children										
118197	Y	Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Susceptibility|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488			16344053				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Gastroenterology. 2005 Dec;129(6):1845-53	Association of Organic Cation Transporter Risk Haplotype With Perianal Penetrating Crohn's Disease but Not With Susceptibility to IBD		605956	19480	2	2005	DLG5 and OCTN do not play a role in the susceptibility to IBD, CD, or ulcerative colitis in the Flemish population but play a role in the phenotypic expression of the disease. OCTN variants were associated with perianal and penetrating CD. More studies in independent populations are urgently needed to assess the validity of DLG5 and OCTN in the pathogenesis of IBD.			DLG5		OCTN				N		Crohn's disease inflammatory bowel disease ulcerative colitis
118198		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Progression|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488			16344054				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Gastroenterology. 2005 Dec;129(6):1854-64	The Contribution of OCTN1/2 Variants Within the IBD5 Locus to Disease Susceptibility and Severity in Crohn's Disease		605956	19481	2	2005	 The IBD5 locus influences susceptibility, progression, and need for surgery in CD. However, the contribution of OCTN1/2 variants is not independent of the IBD5 haplotype; a causative role for these genes remains plausible but is not yet proven. Further genetic, functional, and expression data are now required.											
118199		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Lakatos, P. L.  et al. 2005	15770725				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Hungary	CDC GDPinfo	64127	Hs.592072			World journal of gastroenterology. 2005 Mar;11(10):1489-95	Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease:phenotype-genotype correlations.		605956	19876	2	2005	 These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) alleles are associated with earlier disease onset, ileal disease, stricturing disease behavior in Hungarian CD patients. In contrast, although the frequency of TLR4 D299G polymorphism was not different from controls, NOD2/TLR4 mutation carriers tended to present at earlier age.	Control:200 healthy subjects;Case:527 unrelated patients with Crohn's disease		NOD2/CARD15	"R702W, R703C and 3020insC"	NOD2/TLR4				Y	age of onset	Crohn's disease
118194		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	16	16p12-q21	CARD15	49288551	49324488			16389181				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		605956	17784	2	2006												
118195		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Newman, B.  et al. 2005	15685536				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Canadian		CDC GDPinfo	64127	Hs.592072			Gastroenterology. 2005 Feb;128(2):260-9	A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease		605956	19475	2	2005	 The SLC22A -TC haplotype acts together with CARD15 disease susceptibility alleles to increase risk for CD and ileal disease among CD patients but does not contribute to risk for UC in this Canadian cohort. The association of the SLC22A -TC haplotype and CARD15 alleles with ileal disease suggests that these variants have biologically intertwined effects in the pathogenesis of CD.	Control:352 ethnically matched controls;Case:507/216 Canadian cohort, including 507 patients with Crohn's disease and 216 patients with ulcerative:colitis:Canada										
118196		psoriasis; arthritis, psoriatic; arthritis, inflammatory	IMMUNE	IMM	Arthritis, Psoriatic|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Ho, P.  et al. 2005	16255050				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Great Britain	CDC GDPinfo	64127	Hs.592072			Arthritis and rheumatism. 2005 Nov;52(11):3596-602	Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.		605956	19478	2	2005	 The OCTN haplotype previously associated with Crohn's disease is also associated with PsA, suggesting that these 2 diseases may share some common genetic control in pathways of inflammation.											
118191		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Arnott, I. D.  et al. 2004	15190267				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Irish	Scotland|Ireland	CDC GDPinfo	64127	Hs.592072			Genes and immunity. 2004 Aug;5(5):417-25	NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence forgenetic heterogeneity within Europe?		605956	15680	2	2004	In conclusion, we present compelling evidence for genetic heterogeneity within Europe. These NOD2/CARD15 variants have a minor contribution in Scottish and Irish CD patients, consistent with an emerging pattern from Northern Europe.Genes and Immunity advance online publication, 10 June 2004;	Control:304:controls;Case:612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD:Scotland, Ireland										
118192	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Stoll, M.  et al. 2004	15107852				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Europe	CDC GDPinfo	64127	Hs.592072			Nature genetics. 2004 May;36(5):476-80	Genetic variation in DLG5 is associated with inflammatory bowel disease		605956	16331	2	2004	This is suggestive of a complex pattern of gene-gene interaction between DLG5 and CARD15, reflecting the complex nature of polygenic diseases. Further functional studies will evaluate the biological significance of DLG5 variants.			CARD15		DLG5	113A			Y		Crohn's disease
118193	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		van der Linde, K.  et al. 2005	15843082				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Dutch	Netherlands	CDC GDPinfo	64127	Hs.592072			Digestive and liver disease. 2005 May;37(5):330-5	A functional interleukin-10 mutation in Dutch patients with Crohn's disease.		605956	17691	2	2005	 The interleukin-10 Gly15Arg mutation is rare in patients with Crohn's disease, and is not associated with the disease in the Netherlands.	Case:379 patients with Crohn's disease the Netherlands;Control:75 unrelated healthy controls										
118187		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Lee, G. H.  et al. 2005	15778542				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Korean		CDC GDPinfo	64127	Hs.592072			The Korean journal of gastroenterology. 2005 Mar;45(3):162-8	[Frequency analysis of NOD2 gene mutations in Korean patients with Crohn's disease]		605956	15578	2	2005	 Our results indicate that although three NOD2 mutations are associated with susceptibility to CD in Western populations, these might be rare and may not be associated with susceptibility to CD in Korean patients.	Case:128/47/19 Korean patients with Crohn's disease (N=128), patients with ulcerative colitis (n=47) and Behcet's colitis (n=19);Control:200 healthy controls										
118188		Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	16	16p12-q21	CARD15	49288551	49324488		Zaahl, M. G.  et al. 2005	15967635				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	South African		CDC GDPinfo	64127	Hs.592072			Molecular and cellular probes. 2005 Aug;19(4):278-81	Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease.		605956	15579	2	2005												
118190		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Dobrowolska-Zachwieja, A.  et al. 2005	16161956				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Polski merkuriusz lekarski. 2005 May;18(107):560-5	[Does smoking influence the course of Crohn's disease in patients with the presence of gene NOD2/CARD15 mutation?]		605956	15581	2	2005			smoking behavior									
118184	Y	Crohn's disease	IMMUNE	IMM	Arthritis|Cholangitis, Sclerosing|Crohn Disease|Eye Diseases|Skin Diseases|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Lakatos, L.  et al. 2004	15320482				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Hungary	CDC GDPinfo	64127	Hs.592072			Orvosi hetilap. 2004 Jul;145(27):1403-11	[NOD2/CARD15 mutations and genotype-phenotype correlations in patients with Crohn's disease. Hungarian multicenter study]		605956	15575	2	2004	 In concordance with European data we found a high number of NOD2/CARD15 R702W and 3020insC mutations in Hungarian patients with Crohn's disease. The G908R mutation was uncommon in Hungarian Crohn's patients. The presence of the mutation was associated with ileal but not with fibrostenosing disease and extraintestinal manifestations were less common in carriers of the mutation.	Control:115 healthy subjects;Case:142 Hungarian patients with Crohn's disease (70 male										
118185	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Papaconstantinou, I.  et al. 2004	15578724				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Greek	Greece	CDC GDPinfo	64127	Hs.592072			International journal of cancer. Journal international du cancer. 2005 Apr;114(3):433-5	Association between mutations in the CARD15/NOD2 gene and colorectal cancer in a Greek population.		605956	15576	2	2004	Our results suggest that CARD2/NOD2 may be a genetic factor that predispose to sporadic colorectal cancer.	Control:100 healthy individuals;Case:104 consecutive Greek patients with sporadic colorectal:cancer:Greece										
118186	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Intestinal Obstruction|Acute Disease	16	16p12-q21	CARD15	49288551	49324488		Guagnozzi, D.  et al. 2004	15638227				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Italian	Italy	CDC GDPinfo	64127	Hs.592072			European review for medical and pharmacological sciences. 2004 Sep-Oct;8(5):179-85	Acute intestinal obstruction and NOD2/CARD15 mutations among Italian Crohn's disease patients		605956	15577	2	2004	 Our data confirms that CARD15 mutations are significantly associated with CD also in Italian population and with small bowel location (OM and CET genotype). A new positive association was also found between the carriers of at least one mutation and the acute intestinal obstruction at diagnosis.	Control:101 healthy controls;Case:91/109 in-out consecutive Crohn's diseaes (n=91)and Ulcerative Colitis (n=109) cases:Italy										
118181	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Fidder, H. H.  et al. 2003	12923865				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Jewish	Israel	CDC GDPinfo	64127	Hs.592072			American journal of medical genetics Part A. 2003 Sep;121(3):240-4	Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients		605956	15572	2	2003	We conclude that  germline mutations in the CARD15 gene are more frequently found in CD than UC patients and appear to predict an earlier age-of-onset in Ashkenazi Jewish patients. No association could be demonstrated between CARD15 mutations and specific disease course or behavior.	Cohort 238 unrelated inflammatory bowel disease (IBD) patients, 68 with UC and 170 with CD 										
118183	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Progression	16	16p12-q21	CARD15	49288551	49324488		Walker, L. J.  et al. 2004	15008984				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Clinical and experimental immunology. 2004 Mar;135(3):490-6	Anti-Saccharomyces cerevisiae antibodies (ASCA) in Crohn's disease are associated with disease severity but not NOD2/CARD15 mutations.		605956	15574	2	2004	These data implicate ASCA as a specific marker of disease location and progression in CD, emphasizing the heterogeneity within IBD.	Case:228 patients [143 CD, 75 UC, 10 with indeterminate:colitis (IC)];Control:78 healthy controls	Saccharomces cerevisiae									
118178		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Hampe, J.  et al. 2001	11425413				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	German	Germany|England	CDC GDPinfo	64127	Hs.592072			Lancet. 2001 Jun;357(9272):1925-8	Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.		605956	15569	2	2001	The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis.	Control:272 normal controls:Cohort:369 trios (ie, German patients with sporadic IBD and their unaffected parents):Germany;Case:512 individuals with IBD from 309 German or British:families										
118179	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Yamazaki, K.  et al. 2002	12202985				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Japanese	Japan	CDC GDPinfo	64127	Hs.592072			Journal of human genetics. 2002 ;47(9):469-72	Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.		605956	15570	2	2002	Our findings indicate that the NOD2/CARD15 gene is not a major contributor to CD susceptibility in the Japanese population.	Case:483 Japanese Crohn's disease patients:Japan										
118180	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Negoro, K.  et al. 2003	12631666				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Canada|Japan|Great Britain	CDC GDPinfo	64127	Hs.592072			Gut. 2003 Apr;52(4):541-6	Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease.		605956	15571	2	2003	 The IBD5 risk haplotype is associated with British CD. Genetic variants predisposing to CD show heterogeneity and population specific differences.	Control:156 healthy controls;Case:178 Japanese Crohn's disease cases										
118175	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Levine, A.  et al. 2005	15667501			promoter	Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			The American journal of gastroenterology. 2005 Feb;100(2):407-13	A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease.		605956	14358	2	2005	 Pediatric onset of CD in our population was associated with a frequent polymorphism in the binding site for NF-kappaB in TNF-alpha promoter but not to defined NOD2/CARD15 disease-associated mutations. This polymorphism is associated with colitis and familial disease. NOD2/CARD15 mutations and the TNF-863C/A polymorphism have equivalent but opposite effects on disease location. These findings may help explain differences in CD phenotype.	Case pediatric and adult onset Crohn's disease cases from two cohorts;Control:100 ethnically matched healthy controls										
118176		Crohn's disease	IMMUNE	IMM	Colitis|Ileitis|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Waschke, K. A.  et al. 2005	15842589				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Caucasian		CDC GDPinfo	64127	Hs.592072			The American journal of gastroenterology. 2005 May;100(5):1126-33	Tumor necrosis factor receptor gene polymorphisms in Crohn's disease: association with clinicalphenotypes.		605956	14421	2	2005	 These data constitute the first report of an association of TNFRSF1A and TNFRSF1B polymorphisms with CD in a Caucasian population and address the role of TNFR mutations in determining clinical heterogeneity in CD.	Control:106:controls;Case:205 consecutively identified and unrelated patients with Crohn's disease		TNFRSF1A		TNFRSF1B				Y		Crohn's disease
118177	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Ogura, Y.  et al. 2001	11385577				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Nature. 2001 May;411(6837):603-6	A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.		605956	15568	2	2001	These results implicate NOD2 in susceptibility to Crohn's disease, and suggest a link between an innate immune response to bacterial components and development of disease.	Case not specified in abstract;Control not specified in abstract										
118172	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Bacterial Infections|Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Franchimont, D.  et al. 2004	15194649	Asp299Gly			Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Gut. 2004 Jul;53(7):987-92	Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis.		605956	14299	2	2004	 We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. This finding further supports the genetic influence of PRRs in triggering IBD.	Cohort 114 Crohn's disease patients ;Control:140:controls;Case:163 ulcerative colitis patients:Cohort:334 Crohn's' disease patients										
118173		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Brand, S.  et al. 2005	15973118	Asp299Gly, Thr399Ile			Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Germany	CDC GDPinfo	64127	Hs.592072			Inflammatory bowel diseases. 2005 Jul;11(7):645-52	The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease.		605956	14314	2	2005	 The TLR4 Asp299Gly polymorphism is a risk factor for CD. TLR4 and CARD15/NOD2 mutations may contribute to distinct disease phenotypes.			TLR4	Asp299Gly	CARD15/NOD2				Y		Crohn's disease
118174		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Pouchitis|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Meier, C. B.  et al. 2005	16239841				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Inflammatory bowel diseases. 2005 Nov;11(11):965-71	Innate immune receptor genetic polymorphisms in pouchitis: is CARD15 a susceptibility factor?		605956	14317	2	2005	 CARD15 polymorphisms are seen in greater frequency in patients with pouchitis after IPAA for UC. These findings, if borne out in prospective analyses, suggest that CARD15 mutations, particularly L1007fsinsC, may predispose to the development of pouchitis after IPAA for UC.											
118169	N	psoriasis; psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Lascorz, J.  et al. 2004	15539411				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Caucasian		CDC GDPinfo	64127	Hs.592072			Annals of the rheumatic diseases. 2005 Jun;64(6):951-4	Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort.		605956	11010	2	2004	 The lack of genetic association between the most common Crohn's disease alleles of the CARD15 gene and psoriatic joint disease on large cohorts of white patients does not support a recently claimed role for CARD15 as the first non-MHC susceptibility gene in the pathogenesis of psoriatic arthritis, but confirms and extends previous studies in the case of psoriasis vulgaris.	Case:375/281 patients with psoriatic arthritis (n=375) and patients with psoriasis vulgaris without joint:involvement (n=281);Control:376:controls										
118170	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Glas, J.  et al. 2005	16306764				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Inflammatory bowel diseases. 2005 Dec;11(12):1031-7	Association of Polymorphisms in the Interleukin-18 Gene in Patients With Crohn's Disease Depending on the CARD15/NOD2 Genotype.		605956	11731	2	2005	 In this study, significant differences of several genotypes and diplotypes within the IL-18 gene in CD depending on CARD15/NOD2 status have been found. In context with an increased expression of IL-18 in CD, it remains to be shown whether the expression of IL-18 is influenced by CARD15/NOD2 mutation status.			IL-18						Y		Crohn's disease
118171	N	premature rupture of membranes	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Ferrand, P. E.  et al. 2002	12397216				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	African American	Pennsylvania|Michigan	CDC GDPinfo	64127	Hs.592072			Molecular human reproduction. 2002 Nov;8(11):1031-4	The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).		605956	14283	2	2002	We conclude that  the CARD15 mutation and hyporesponsive TLR4 allele do not contribute to ethnic variation in the incidence of PPROM.	Case preterm premature rupture of membrane cases;Control:controls										
118166	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Gazouli, M.  et al. 2005	15655821				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Greek	Greece	CDC GDPinfo	64127	Hs.592072			World journal of gastroenterology. 2005 Feb;11(5):681-5	Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population		605956	9274	2	2005	 Our results indicate that co-existence of a mutation in either the TLR4 or CD14 gene, and in NOD2/CARD15 is associated with an increased susceptibility to developing CD compared to UC, and to developing either CD or UC compared to healthy individuals.	Control:100 healthy individuals;Case:120/85 Greek patietns with Crohn's disease (n=120) and ulcerative colitis (n=85)										
118167		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Leung, E.  et al. 2005	16174099				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Immunology and cell biology. 2005 Oct;83(5):498-503	Polymorphisms of CARD15/NOD2 and CD14 genes in New Zealand Crohn's disease patients.		605956	9295	2	2005												
118168	N	necrotizing enterocolitis	INFECTION	INF	Enterocolitis, Necrotizing|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488			16385250				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Journal of pediatric gastroenterology and nutrition. 2006 Jan;42(1):27-31	Genetic Polymorphisms of CD14, Toll-like Receptor 4, and Caspase-Recruitment Domain 15 Are Not Associated with Necrotizing Enterocolitis in Very Low Birth Weight Infants		605956	9304	2	2006	 Carrier state of the tested CD14, TLR4, and CARD15 SNPs is not associated with NEC risk in VLBW infants.											
118163		sepsis	INFECTION	INF	Cross Infection|Sepsis	16	16p12-q21	CARD15	49288551	49324488		Sgambato, E.   2005	16080653				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			La Clinica terapeutica. 2005 Jan-Apr;156(2-Jan):10-Jul	[Nosocomial sepsis and polymorphism of NOD-2 gene]		605956	8994	2	2005												
118164	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Klein, W.  et al. 2003	12940436				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Scandinavian journal of gastroenterology. 2003 Aug;38(8):834-6	Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.		605956	9246	2	2003	 Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.	Control:controls;Case:253 patients with Crohn's disease		CARD15	"Arg702Trp, Gly908Arg and Leu1007fsinsC"	CD14	TT			Y		Crohn disease
118165		preterm delivery	REPRODUCTION	REP	Premature Birth	16	16p12-q21	CARD15	49288551	49324488		Hartel, C.  et al. 2004	15516360				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Molecular human reproduction. 2004 Dec;10(12):911-5	Polymorphisms of genes involved in innate immunity:association with preterm delivery		605956	9269	2	2004	The overall influence of the investigated polymorphisms on the development of preterm delivery seems moderate, since only the maternal IL6-174G genotype was associated with preterm birth and none of the polymorphisms were associated with intrauterine infection as the cause of preterm birth.	Control:491 term-born infants;Case:909 preterm very-low-birth-weight infants										
118159	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Klein, W.  et al. 2004	13680285				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			International journal of colorectal disease. 2004 Mar;19(2):153-6	A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene.		605956	8990	2	2004	 The findings indicate that the phenotype Crohn's disease is to be substructured with respect to genetic susceptibility.	Case:259 patients with Crohn's disease;Control:441 healthy controls										
118160	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Kim, T. H.  et al. 2004	15468360				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Korean	Korea	CDC GDPinfo	64127	Hs.592072			The Journal of rheumatology. 2004 Oct;31(10):1959-61	Analysis of CARD15 polymorphisms in Korean patients with ankylosing spondylitis reveals absence of common variants seen in western populations.		605956	8991	2	2004	 Our findings indicate that the CARD15 gene is not a major contributor to AS susceptibility in the Korean population.	Control:200:controls;Case:205 ankylosing spondylitis patients										
118161	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Gao, M.  et al. 2005	15840263				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Chinese		CDC GDPinfo	64127	Hs.592072			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2005 Mar;44(3):210-2	[NOD2/CARD15 gene polymorphisms and susceptibility to Crohn's disease in Chinese Han population]		605956	8992	2	2005	 The common variants in NOD2/CARD15 found in Caucasians with CD are not associated with CD in the Chinese Han population.	Control:292 healthy controls;Case:32/110 patients with Crohn's disease (n=32) and ulcerative:colitis (n=110):Zhejiang, China										
118156		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Hugot JP 2001	11385576		sustained activation of NFkB		caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			KGB	64127	Hs.135201			Nature. 2001 May;411(6837):599-603			605956	6834	1	2001												
118157	Y	asthma; allergies	IMMUNE	IMM	Hypersensitivity	16	16p12-q21	CARD15	49288551	49324488		Kabesch, M.  et al. 2003	12704363				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	German		CDC GDPinfo	64127	Hs.592072			The Journal of allergy and clinical immunology. 2003 Apr;111(4):813-7	Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations.		605956	8988	2	2003	 The shared genetic background between Crohn's disease and atopy may indicate that an impaired recognition of microbial exposures results in an insufficient downregulation of excessive immune responses, giving rise to either T(H)2 dominated allergies or T(H)1 related Crohn's disease.	Cohort 1,872 German schoolchildren East and West Germany 										
118158	N	psoriasis	IMMUNE	IMM	Crohn Disease|Psoriasis	16	16p12-q21	CARD15	49288551	49324488		Young, C.  et al. 2003	12930309				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Experimental dermatology. 2003 Aug;12(4):506-9	A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis		605956	8989	2	2003	This particular insertion mutation in the NOD2 gene does not appear to contribute to the genetic susceptibility of psoriasis vulgaris, PPP or guttate psoriasis. However, other mutations exist in the NOD2 gene, which may potentially have a role in psoriasis susceptibility.	Case:216/100/118 psoriasis vulgaris (n = 216), palmo-plantar pustular psoriasis (PPP) (n = 100), guttate:psoriasis (n = 118);Control:283:controls										
118152		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Tukel T 2004	15024686				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	European		KGB	64127	Hs.592072			American journal of human genetics. 2004 Apr;74(4):623-36	Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.		605956	6830	1	2004												
118154		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Nunez C 2004	15056084				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	caucasian	Spain	KGB	64127	Hs.592072			The American journal of gastroenterology. 2004 Mar;99(3):450-6	CARD15 mutations in patients with Crohn's disease in a homogeneous Spanish population.		605956	6832	1	2004	 The CARD15 variants G908R and 1007fs, but not R702W, are associated with susceptibility to Crohn's disease in Galicia. Interestingly, the frequency of these mutations appears to be lower than in other Caucasian populations studied so far.											
118155		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Kurzawski G 2004	14996717				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Cancer research. 2004 Mar;64(5):1604-6	The NOD2 3020insC mutation and the risk of colorectal cancer.		605956	6833	1	2004												
118148		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Chong WP 2004	14681560				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Chinese	Hong Kong|Sweden	Y Wang	64127	Hs.592072			Rheumatology (Oxford, England). 2004 Jan;43(1):104-5	Common NOD2 polymorphisms in Hong Kong Chinese patients with systemic lupus erythematosus.		605956	6826	1	2004												
118150	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Guo QS 2004	15052696	3020insC frameshift mutation			Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Han Chinese		KGB	64127	Hs.592072			World journal of gastroenterology. 2004 Apr;10(7):1069-71	NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality.		605956	6828	1	2004	 NOD2 gene 3020insC frameshift mutation is not a major contributor to the susceptibility to both Crohn's disease and ulcerative colitis in Chinese Han patients.											
118151		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Annese V 2004	15002819				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Italian	Italy	KGB	64127	Hs.592072			Digestive and liver disease. 2004 Feb;36(2):121-4	Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease Study.		605956	6829	1	2004	 Our data confirm the strong correlation between the 1007 fs variant and Crohn's disease, in both familial and sporadic cases. Moreover, no significant difference of allele frequencies was detected in familial cases, sporadic cases and healthy controls among different geographic areas of Italy.											
118145		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Linskens RK 2004	14971813				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Dutch		KGB	64127	Hs.592072			Digestive and liver disease. 2004 Jan;36(1):29-34	Genetic and serological markers to identify phenotypic subgroups in a Dutch Crohn' s disease population.		605956	6823	1	2004	 Genetic and serologic markers might be useful in defining patient subgroups. This may result in a more accurate prediction of disease behaviour, prognosis and therapeutic approach.											
118146		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Newman B 2004	15046222				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Canada	KGB	64127	Hs.592072			The American journal of gastroenterology. 2004 Feb;99(2):306-15	CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn's disease.		605956	6824	1	2004	 These observations confirm the influence of CARD15 and HLA-DRB1 alleles on both CD susceptibility and site of disease and identify genotyping of these variants as a potential tool for improved diagnosis and risk prediction in CD.											
118147		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Karban A 2004	14765395			haplotype	Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Israel	KGB	64127	Hs.592072			Gastroenterology. 2004 Feb;126(2):624-5	Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population.		605956	6825	1	2004												
118141	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Uveitis	16	16p12-q21	CARD15	49288551	49324488	n	Martin TM 2003	14597055				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			American journal of ophthalmology. 2003 Nov;136(5):933-5	Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15).		605956	6819	1	2003	 Despite the strikingly similar pathologies of Blau syndrome and sarcoidosis, no mutations were found to be associated with sarcoidosis in a group of patients, regardless of the presence of uveitis.											
118142		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Shaw SH 2003	13680363				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Human genetics. 2003 Nov;113(6):514-21	Stratification by CARD15 variant genotype in a genome-wide search for inflammatory bowel disease susceptibility loci.		605956	6820	1	2003	This result is in agreement with the existence of a substantial number of private variants at the NOD2/CARD15 locus. Interaction with NOD2/CARD15 needs to be considered in future gene identification efforts on chromosomes 6 and 10.											
118143	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Klein W 2003	12940436				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Scandinavian journal of gastroenterology. 2003 Aug;38(8):834-6	Interaction of polymorphisms in the CARD15 and CD14 genes in patients with Crohn disease.		605956	6821	1	2003	 Interactions of the CARD15 and CD14 genes, both of which are involved in the recognition of lipopolysaccharides, increase the risk for developing CD.	Control:controls;Case:253 patients with Crohn's disease		CARD15	"Arg702Trp, Gly908Arg and Leu1007fsinsC"	CD14	TT			Y		Crohn disease
118136	N	Crohn's disease	IMMUNE	IMM	Spondylitis, Ankylosing|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488	n	Ferreiros-Vidal I et al. 2003	12508397				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			The Journal of rheumatology. 2003 Jan;30(1):102-4	Lack of association of ankylosing spondylitis with the most common NOD2 susceptibility alleles to Crohn's disease.		605956	6814	1	2003	 The 3 most common CD NOD2 mutations do not contribute to disease susceptibility to AS, and therefore do not explain the susceptibility locus for AS in chromosome 16q.											
118137	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488	<0.0001	van Heel DA 2002	12210321	Leu1007fsinsC	frameshift: truncated protein	coding sequence	Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	British Caucasian		van Heel DA	64127	Hs.592072			American journal of medical genetics. 2002 Aug;111(3):253-9			605956	6815	1	2002		Case:294 Crohn's disease trios										
118139	Y	neonatal sepsis	INFECTION	INF	Sepsis	16	16p12-q21	CARD15	49288551	49324488	p = 0.052	Ahrens P 2004	14739370	NOD2-3020insC			Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072	development of neonatal sepsis in very low birthweight (VLBW) infants		Pediatric research. 2004 Apr;55(4):652-6	Mutations of genes involved in the innate immune system as predictors of sepsis in very low birth weight infants.		605956	6817	1	2004												
118132	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488	n	Mascheretti S et al. 2002	12360101				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Germany	KGB	64127	Hs.592072	Response to infliximab treatment		Pharmacogenetics. 2002 Oct;12(7):509-15	Response to infliximab treatment in Crohn's disease is not associated with mutations in the CARD15 (NOD2) gene: an analysis in 534 patients from two multicenter prospective GCP-level trials.		605956	6810	1	2002												
118133	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Hampe J et al. 2002	12020527				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Germany|Norway	KGB	64127	Hs.592072			Lancet. 2002 May;359(9318):1661-5	Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study.		605956	6811	1	2002												
118134	N	Wegener's granulomatosis	OTHER	OTH	Wegener's Granulomatosis|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488	n	Newman B et al. 2003	12563685				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			The Journal of rheumatology. 2003 Feb;30(2):305-7	NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis.		605956	6812	1	2003	 Our data provide no evidence to support an association between CARD15 and WG.											
118128	Y	Inflammatory Bowel Disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488	P<0.0001	Hampe J 2001	11425413				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	German and British	Germany|England	KGB	64127	Hs.592072			Lancet. 2001 Jun;357(9272):1925-8	Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.		605956	6806	1	2001	The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis.	Control:272 normal controls:Cohort:369 trios (ie, German patients with sporadic IBD and their unaffected parents):Germany;Case:512 individuals with IBD from 309 German or British:families										
118129	Y	Inflammatory Bowel Disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488	P=0.0004	Cuthbert AP 2002	11910337	P268S. R702W. G908R. and 3020insC			Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	European		KGB	64127	Hs.592072			Gastroenterology. 2002 Apr;122(4):867-74			605956	6807	1	2002	 The R702W, G908R, and 3020insC mutations are strong independent risk factors for CD and are associated particularly with ileal disease.	Case:531 CD. 337 UC. and 995 IBD; Control:290										
118130	Y	Psoriatic Arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488	P = .0005	Rahman et al. 2003	12879366	R702W leu1007fsinsC and G908R		coding sequence	Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Newfoundland		KGB	64127	Hs.592072			American journal of human genetics. 2003 Sep;73(3):677-81	CARD15: a pleiotropic autoimmune gene that confirms susceptibility to psoriatic arthritis		605956	6808	1	2003		Case:187; Control:136										
118124		diabetes, type 2; nephropathy, diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Berger, M.  et al. 2005	16333311				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			European journal of human genetics. 2006 Feb;14(2):236-44	Hidden population substructures in an apparently homogeneous population bias association studies		605286	15560	2	2005												
118126		sepsis	INFECTION	INF	Sepsis	7	7p22	CARD11	2912307	3049996		Ahrens, P.  et al. 2004	14739370				Caspase recruitment domain family, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032415.2			CDC GDPinfo	84433	Hs.520628			Pediatric research. 2004 Apr;55(4):652-6	Mutations of Genes Involved in the Innate Immune System as Predictors of Sepsis in Very Low Birth Weight Infants		607210	15678	2	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants 										
118127		Blau Syndrome	IMMUNE	IMM	Joint Diseases|Arthritis|Uveitis|Exanthema|Syndrome	16	16p12-q21	CARD15	49288551	49324488		Miceli-Richard C 2001	11528384				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	French and German		KGB	64127	Hs.592072			Nature genetics. 2001 Sep;29(1):19-20			605956	6805	1	2001												
118121	Y	triglycerides; obesity	METABOLIC	MET	Obesity	2	2q37.3	CAPN10	241174817	241205795		Carlsson, E.  et al. 2004	15240652				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Swedish	Sweden	CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3601-5	Variation in the calpain-10 gene is associated with elevated triglyceride levels and reduced adipose tissue messenger ribonucleic acid expression in obese Swedish subjects.		605286	15557	2	2004	Our data suggest that reduced CAPN10 expression may be a risk factor for features associated with the metabolic syndrome in obese subjects, although variation in the gene does not seem to contribute to the risk for developing obesity per se.	Control control subjects;Case obese subjects										
118122	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Iwasaki, N.  et al. 2005	15696376				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Japanese	Japan	CDC GDPinfo	11132	Hs.112218			Journal of human genetics. 2005 ;50(2):92-8	Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population.		605286	15558	2	2005	Thus, variation in the calpain-10 gene may affect risk of type 2 diabetes in Japanese, especially in older individuals.	Case:927 Japanese type 2 diabetic patients;Control:929:controls										
118123		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	2	2q37.3	CAPN10	241174817	241205795		Wu, B.  et al. 2005	15860244				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese	China	CDC GDPinfo	11132	Hs.112218			Diabetes research and clinical practice. 2005 May;68(2):155-61	Variants of calpain-10 gene and its association with type 2 diabetes mellitus in a Chinese population.		605286	15559	2	2005	Our results suggest that haplotype combination 112/221 associated with reduced risk for T2DM and haplotype combination 112/121 might be a risk factor for increased serum cholesterol in Chinese population.	Control:104:controls;Case:168 Chinese patients with type 2 diabetes										
118117		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism|Genetic Predisposition to Disease|Amenorrhea	2	2q37.3	CAPN10	241174817	241205795		Gonzalez, A.  et al. 2003	14602801				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Spanish		CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2003 Nov;88(11):5529-36	Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients.		605286	15553	2	2003	Our results confirm the association of UCSNP-44 allele with PCO phenotype in the Spanish population. Moreover, we have identified novel candidate risk alleles and genotypes, within CAPN10 gene, that could be associated with important phenotypic and prognosis differences observed in PCOS patients.	Case:148 Spanish women showing echographically detected polycystic ovaries combined with one or more of;Control:93 unrelated controls										
118118		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Song, Y.  et al. 2004	14730479				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			American journal of human genetics. 2004 Feb;74(2):208-22	Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes? A Quantitative Assessment of Population and Family-Based Association Studies		605286	15554	2	2004	Our meta-analysis of family-based studies showed only an overtransmission of the rare allele C in UCSNP-44 from heterozygous parents to their affected offspring with T2D. Our analysis indicates that inadequate statistical power, racial/ethnic differences in frequencies of alleles, haplotypes and haplotype combinations, potential gene-gene or gene-environment interactions, publication bias, and multiple hypothesis testing may contribute to the significant heterogeneity in previous studies of CAPN10 and T2D. Our findings also suggest that both large-scale, well-designed association studies and functional studies are warranted to either reliably confirm or conclusively refute the initial hypothesis regarding the role of CAPN10 in T2D risk.	Case:5,013 type 2 diabetic cases;Control:5,876:controls										
118119	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		del Bosque-Plata, L.  et al. 2004	14741193				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Mexican	Mexico|Texas	CDC GDPinfo	11132	Hs.112218			Molecular genetics and metabolism. 2004 Feb;81(2):122-6	Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population.		605286	15555	2	2004	The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas).	Control:114 subjects with normal fasting blood glucose levels;Case:134 individuals representative of the mestizo population with type 2 diabetes Mexico City and Orizaba, Mexico										
118114	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Horikawa, Y.  et al. 2003	12519860				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Mexican	Japan	CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2003 Jan;88(1):244-7	Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese		605286	15550	2	2003	Though this variation occurs in Japanese more frequently than in Mexican Americans, there is no significant difference in frequency between diabetic (29.9%) and control (31.9%) subjects. We also screened all exons and the putative promoter of the calpain-10 gene for mutations in 96 of the genotyped patients, resulting in the identification of 7 coding variants, including 3 missense mutations and 5 nucleotide alterations in the promoter. However, their frequencies all are similar in patients and controls, suggesting that these genetic variations are not a major factor in the occurrence of type 2 diabetes in Japanese, although they could yet be associated with various phenotypes of the disease.	Control:172:controls;Case:177 Japanese patients with type 2 diabetes										
118115		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Cox, N. J.   2002	12643138				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Current diabetes reports. 2002 Apr;2(2):186-90	Calpain 10 and genetics of type 2 diabetes.		605286	15551	2	2002	Review article											
118116	Y	body mass; hemoglobin A(1c)	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Shima, Y.  et al. 2003	14500039				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Japanese	Japan	CDC GDPinfo	11132	Hs.112218			Clinica chimica acta; international journal of clinical chemistry. 2003 Oct;336(2-Jan):89-96	Association of the SNP-19 genotype 22 in the calpain-10 gene with elevated body mass index and hemoglobin A1c levels in Japanese.		605286	15552	2	2003	 These results indicate the contribution of SNP-19 in CAPN10 to mild obesity and glucose intolerance in Japanese.	Cohort 286 Japanese subjects who visited a General Health Check-up Center Japan 										
118111	Y	insulin resistance; fatty acid	METABOLIC	MET	Insulin Resistance	2	2q37.3	CAPN10	241174817	241205795		Orho-Melander, M.  et al. 2002	12145185				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Finland	CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 Aug;51(8):2658-64	Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels.		605286	15547	2	2002	Because FFA and insulin resistance are known to predict type 2 diabetes, the finding that variation in the CAPN10 gene influences FFA levels and insulin resistance may provide an explanation for how the CAPN10 gene increases susceptibility to type 2 diabetes.	Control:298 nondiabetic control subjects;Case:395 type 2 diabetic patients:Finland										
118112	Y	polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Gonzalez, A.  et al. 2002	12161543				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):3971-6	Comment: CAPN10 alleles are associated withpolycystic ovary syndrome.		605286	15548	2	2002	These results support a role of Calpain 10 gene in PCOS susceptibility in humans.	Case:55 well characterized women with polycystic ovaries:Spain;Control:93 unrelated healthy controls										
118113	N	diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Rasmussen, S. K.  et al. 2002	12453914				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Caucasian	Scandinavia	CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 Dec;51(12):3561-7	Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians.		605286	15549	2	2002	In conclusion, the frequency of the 112/121 at-risk haplotype of CAPN10 is low among Scandinavians and we were unable to demonstrate significant associations between the CAPN10 variants and type 2 diabetes, insulin resistance, or impaired insulin secretion.	Control:200/322/206/457 glucose-tolerant control subjects (n=200) , young healthy subjects (n=322), glucose tolerant offspring of diabetic patients (n=206), and glucose-tolerant 70-year-old men (n=457);Case:409 type 2 diabetic patients										
118108	Y	microvascular function	CARDIOVASCULAR	CARD	Insulin Resistance	2	2q37.3	CAPN10	241174817	241205795		Shore, A. C.  et al. 2002	12107735				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Caucasian	England	CDC GDPinfo	11132	Hs.112218			Diabetologia. 2002 Jun;45(6):899-904	Association of calpain-10 gene with microvascular function		605286	15544	2	2002	The polymorphism that confers susceptibility to Type II (non-insulin-dependent) diabetes mellitus in some populations is associated in United Kingdom Caucasians with enhanced microvascular function in the presence of normoglycaemia.	Cohort 37 Caucasian healthy volunteers UK 										
118109		insulin	METABOLIC	MET		2	2q37.3	CAPN10	241174817	241205795		Stumvoll, M.  et al. 2002	12107745				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Diabetologia. 2002 May;45(5):651-6	Insulin sensitivity of glucose disposal and lipolysis: no influence of common genetic variantsin IRS-1 and CAPN10		605286	15545	2	2002	Insulin sensitivity of lipolysis has a considerable variation in healthy human beings and independently explains about 10% of the variation in insulin sensitivity of glucose disposal (or vice versa). It is possible that mediated through NEFAs, insulin resistance of glucose disposal is secondary to that of lipolysis. Alternatively, the biological variation in insulin sensitivity, to some extent, affects both systems in parallel. Neither of the two putatively insulin resistance-related polymorphisms that were tested contributed measurably to the biological variation of insulin sensitivity of lipolysis.	Cohort 81 healthy subjects 										
118110	Y	insulin; glucose; C-peptide; fatty acid	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Wang, Y.  et al. 2002	12133483				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Zhonghua yi xue za zhi. 2002 May;82(9):613-6	[The UCSNP44 variation of calpain 10 gene on NIDDM1 locus and its impact on plasma glucose levels in type 2 diabetic patients]		605286	15546	2	2002	 The variation of CAPN-10 UCSNP44 has an impact on plasma glucose levels at fasting and after glucose challenge in subjects with type 2 diabetes. The relevant mechanism remains to be elucidated.	Case:128 Chinese with type 2 diabetes:Shanghai, China;Control:148 Chinese with normal glucose tolerance										
118105		diabetes, type 2; polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Ehrmann, D. A.  et al. 2002	11932299				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	African American		CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2002 Apr;87(4):1669-73	Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome.		605286	15541	2	2002	In addition to its association with insulin levels in African-Americans, the 112/121-haplotype combination was associated with an approximate 2-fold increase in risk of PCOS in both African-Americans and whites.	Cohort 212 women with PCOS (124 white of European ancestry, 57 African-American, 13 Hispanic, 13 Asian-American, and 5 Middle-Eastern) 										
118106	Y	diabetes, type 2; nephropathy, diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Malecki, M. T.  et al. 2002	11980626				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Polish	Poland	CDC GDPinfo	11132	Hs.112218			European journal of endocrinology. 2002 May;146(5):695-9	Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population.		605286	15542	2	2002	 The results of our study suggest the association of calpain 10 121/121 haplotype combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. However, we were not able to confirm the previously described role of the heterozygous 112/121 haplotype combination in susceptibility to T2DM.	Control:148 control individuals;Case:229 type 2 diabetes patients:Poland										
118107	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Haddad, L.  et al. 2002	12050223				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2606-10	Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.		605286	15543	2	2002	We have found no evidence from these analyses that CAPN10 gene variation influences susceptibility to PCOS.	Case:185 European ancestry polycystic ovary syndrome cases;Control:525 European ancestry control subjects										
118101	Y	diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus, Type 2|Prediabetic State	2	2q37.3	CAPN10	241174817	241205795		Garant, M. J.  et al. 2002	11756346				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	African American	United States	CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 Jan;51(1):231-7	SNP43 of CAPN10 and the risk of type 2 Diabetes in African-Americans: the Atherosclerosis Risk inCommunities Study.		605286	15537	2	2002	We conclude from this large prospective study that the G allele of SNP43 of CAPN10 or another allele or gene that is in linkage disequilibrium with it increases susceptibility to type 2 diabetes in African-Americans.	Control:1159 nondiabetic control subjects;Case:269 prevalent diabetes cases										
118103	Y	diabetes, type 2; insulin; glucose; C-peptide; fatty acid	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Xiang, K.  et al. 2001	11774208				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6):426-30	[The impact of calpain-10 gene combined-SNP variation on type 2 diabetes mellitus and its related metabolic traits]		605286	15539	2	2001	 The variation of calpain-10 gene has impact on the variation of clinical metabolic parameter levels related to type 2 diabetes mellitus. Such impact depends upon the haplotypes as well as the haplotype combination of calpain-10 gene variations.	Case:124 subjects with type 2 diabetes:Shanhai, China;Control:144 subjects with normal glucose tolerance										
118104		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Fullerton, S. M.  et al. 2002	11891618				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Africa	CDC GDPinfo	11132	Hs.112218			American journal of human genetics. 2002 May;70(5):1096-106	Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.		605286	15540	2	2002	These results suggest a history of positive natural selection at the locus, resulting in significant geographic differences in polymorphism frequencies.	Cohort 561 individuals from 11 populations from five continents 										
118097		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia	2	2q37.3	CAPN10	241174817	241205795		Malecki, M. T.  et al. 2003	14974344				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Polish	Poland	CDC GDPinfo	11132	Hs.112218			Przegl Lek. 2003 ;60(8):519-22	Calpain 10 gene polymorphisms and the risk of ischaemic stroke in a Polish population.		605286	8985	2	2003	Our study did not showed any association between	Control:148:controls;Case:209 Polish patients with a first ischemic stroke:Poland										
118099	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Chen, Y.  et al. 2005	15652721				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	West Africans	Ghana|Nigeria	CDC GDPinfo	11132	Hs.112218			Annals of epidemiology. 2005 Feb;15(2):153-9	Calpain-10 gene polymorphisms and type 2 diabetes in West Africans: the Africa America DiabetesMellitus (AADM) Study		605286	8987	2	2005	 Considering the relatively low frequency of haplotype 221 and that none of the haplotypes including 221 was associated with any of the diabetes-related quantitative traits tested, it is concluded that SNP-43, -56, and -63 of the CAPN10 gene variants may play a limited role in the risk of type 2 diabetes risks in this cohort of West Africans.	Control:148 unaffected controls from four ethnic groups in two West African countries;Case:347 type 2 diabetic subjects West Africa										
118100	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Evans, J. C.  et al. 2001	11481585				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	U.K. population	Great Britain	CDC GDPinfo	11132	Hs.112218			American journal of human genetics. 2001 Sep;69(3):544-52	Studies of Association between the Gene for Calpain-10 and Type 2 Diabetes Mellitus in the United Kingdom		605286	15536	2	2001	In conclusion, we were not able to replicate the association of the specific calpain-10 alleles identified by Horikawa et al. but suggest that other alleles at this locus may increase type 2 diabetes risk in the U.K. population.	743 sib-pairs Britain 										
118094	Y	hypertension; glucose	CARDIOVASCULAR	CARD	Hypertension|Genetic Diseases, Inborn|Hyperglycemia	2	2q37.3	CAPN10	241174817	241205795		Hong, J.  et al. 2002	12137596				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Jun;41(6):370-3	[Relationship between calpain-10 gene polymorphism, hypertension and plasma glucose]		605286	8982	2	2002	 Polymorphism of UCSNP-43 in CAPN-10 gene might be one of the genetic factors contributing to hypertension and diabetes mellitus in the population in Daqing city. It may be a predictor of type 2 diabetes mellitus (T2DM) in the decendents of hypertensives.	Case second generation offsprings of the hypertensives;Control second generation offsprings of the:hnonypertensives										
118095	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Sun, H. X.  et al. 2002	12905623				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese		CDC GDPinfo	11132	Hs.112218			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):228-33	[Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China]		605286	8983	2	2002	 The SNP distribution of CAPN10 gene varies with different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.	Control:156 normal Han people;Case:173 type 2 diabetics of Han ethnic origin Northern China										
118096	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Chen, L. X.  et al. 2003	14642065				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese		CDC GDPinfo	11132	Hs.112218			Zhonghua yi xue za zhi. 2003 Nov;83(21):1856-9	[Study on Calpain10 gene polymorphism in Chinese type 2 diabetes families]		605286	8984	2	2003	 SNP43 site of Calpain10 gene is related to type 2 diabetes. Calpain 10 gene may be a related gene of type 2 diabetes in Chinese.	Control:127 normal control subjects;Case:801/201 individuals (n=801) from 218 type 2 diabetes mellitus families and type 2 diabetes patients without family history (n=211) North China										
118090	Y	glucose metabolism	METABOLIC	MET		2	2q37.3	CAPN10	241174817	241205795		Hoffstedt, J.  et al. 2002	11935160				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Diabetologia. 2002 Feb;45(2):276-82	Polymorphism in the Calpain 10 gene influences glucose metabolism in human fat cells.		605286	8978	2	2002	The Calpain 10 gene could be involved in the regulation of glucose metabolism but not lipolysis in human fat cells, although it does not involve adipocyte GLUT-4 protein content. It is possible that the Calpain 10 gene predisposes to diabetes by influencing the glucose metabolism.	Cohort 46 apparently healthy non-obese subjects 										
118091		diabetes, type 2; glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Cassell, P. G.  et al. 2002	11978665				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	South Indian		CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 May;51(5):1622-8	Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians		605286	8979	2	2002	This study supports the paradigm that specific haplotype combinations of calpain 10 variants increase risk of both IFG/IGT and type 2 diabetes. However, the relative infrequency of the "at-risk" combinations in the South Indian population suggests that calpain 10 is not a common determinant of susceptibility to type 2 diabetes.	Cohort 95 South Indian families ascertained through a proband with type 2 diabetes Cohort 95 South Indian families ascertained through a proband with type 2 diabetes Cohort 468 South Indian subjects recruited as part of an urban survey (18.2% with type 2 diabetes) Cohort 468 South Indian subjects recruited as part of an urban survey (18.2% with type 2 diabetes) 										
118092	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Fingerlin, T. E.  et al. 2002	11978669				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Finnish	Finland	CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 May;51(5):1644-8	Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort		605286	8980	2	2002	We conclude that  variation in these three SNPs in the calpain-10 gene is unlikely to confer susceptibility to type 2 diabetes in this Finnish cohort.	Control:223 elderly normal glucose-tolerant control subjects;Case:526/255 Finnish subjects with type 2 diabetes ( (526 Finland-U.S. Investigation of NIDDM Genetics [FUSION] 1) and 255 (FUSION 2) index cases)										
118086		glucose tolerance	METABOLIC	MET		2	2q37.3	CAPN10	241174817	241205795		Stumvoll, M.  et al. 2001	11522685				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	German		CDC GDPinfo	11132	Hs.112218			Diabetes. 2001 Sep;50(9):2161-3	Functional significance of the UCSNP-43 polymorphism in the CAPN10 gene for proinsulin processing and insulin secretion in nondiabetic Germans.		605286	8974	2	2001	it appears unlikely that any association of the UCSNP-43 polymorphism alone with type 2 diabetes involves impairment of insulin secretion in our population of German Caucasians. This may be entirely different with specific haplotype combinations.	Cohort 73 nondiabetic subjects southwest region of Germany 										
118087		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Tsai, H. J.  et al. 2001	11704924				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Samoa	CDC GDPinfo	11132	Hs.112218			American journal of human genetics. 2001 Dec;69(6):1236-44	Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence ofassociation.		605286	8975	2	2001	we failed to detect any association between case subjects and control subjects in allele frequencies, haplotype frequencies, or haplotype combinations.	Case:172 unrelated affected type 2 diabetes subjects:Samoa;Control:96 controls subjects not otherwise specified										
118089	N	cholesterol; diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Hypercholesterolemia	2	2q37.3	CAPN10	241174817	241205795		Daimon, M.  et al. 2002	11891023				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Japanese	Japan	CDC GDPinfo	11132	Hs.112218			Diabetes research and clinical practice. 2002 May;56(2):147-52	Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese.		605286	8977	2	2002	The genotype combination might be a risk factor, not for DM, obesity and hypertension, but for increased serum cholesterol.	Case:81 subjects with type 2 diabetes;Control:81 non-diabetic subjects										
118083	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Chen LX 2003	14642065				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese		Y Wang	11132	Hs.112218			Zhonghua yi xue za zhi. 2003 Nov;83(21):1856-9	Study on Calpain10 gene polymorphism in Chinese type 2 diabetes families		605286	6711	1	2003	 SNP43 site of Calpain10 gene is related to type 2 diabetes. Calpain 10 gene may be a related gene of type 2 diabetes in Chinese.	Control:127 normal control subjects;Case:801/201 individuals (n=801) from 218 type 2 diabetes mellitus families and type 2 diabetes patients without family history (n=211) North China										
118084		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Cassell PG 2002	11978665				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	South Indian		Y Wang	11132	Hs.112218			Diabetes. 2002 May;51(5):1622-8	Haplotype combinations of calpain 10 gene polymorphisms associate with increased risk of impaired glucose tolerance and type 2 diabetes in South Indians.		605286	6712	1	2002	This study supports the paradigm that specific haplotype combinations of calpain 10 variants increase risk of both IFG/IGT and type 2 diabetes. However, the relative infrequency of the "at-risk" combinations in the South Indian population suggests that calpain 10 is not a common determinant of susceptibility to type 2 diabetes.	Cohort 95 South Indian families ascertained through a proband with type 2 diabetes Cohort 95 South Indian families ascertained through a proband with type 2 diabetes Cohort 468 South Indian subjects recruited as part of an urban survey (18.2% with type 2										
118085	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795	0.017	del Bosque-Plata L	14741193	The allele associated with increased risk of type 2 diabetes is a rare allele, maybe difficult to found in all the populations.		coding sequence	Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Mexican	Mexico|Texas	Laura del Bosque-Plata	11132	Hs.112218			Molecular genetics and metabolism. 2004 Feb;81(2):122-6	Association of calpain-10 gene with type 2 diabetes mellitus in a Mexican Population		605286	6713	1	2004	The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas).	Control:114 subjects with normal fasting blood glucose levels;Case:134 individuals representative of the mestizo population with type 2 diabetes Mexico City and Orizaba, Mexico										
118079		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Gorgens H 2003	12881460				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			Y Wang	11132	Hs.112218			Clinical chemistry. 2003 Aug;49(8):1405-8	LightCycler assay in the analysis of haplotypes of the type 2 diabetes susceptibility gene CAPN10.		605286	6707	1	2003												
118081		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Song Y 2004	14730479				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			KGB	11132	Hs.112218			American journal of human genetics. 2004 Feb;74(2):208-22	Are variants in the CAPN10 gene related to risk of type 2 diabetes? A quantitative assessment of population and family-based association studies.		605286	6709	1	2004	Our meta-analysis of family-based studies showed only an overtransmission of the rare allele C in UCSNP-44 from heterozygous parents to their affected offspring with T2D. Our analysis indicates that inadequate statistical power, racial/ethnic differences in frequencies of alleles, haplotypes and haplotype combinations, potential gene-gene or gene-environment interactions, publication bias, and multiple hypothesis testing may contribute to the significant heterogeneity in previous studies of CAPN10 and T2D. Our findings also suggest that both large-scale, well-designed association studies and functional studies are warranted to either reliably confirm or conclusively refute the initial hypothesis regarding the role of CAPN10 in T2D risk.	Case:5,013 type 2 diabetic cases;Control:5,876:controls										
118082	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Sun HX 2002	12905623				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese		Y Wang	11132	Hs.112218			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):228-33	Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China		605286	6710	1	2002	 The SNP distribution of CAPN10 gene varies with different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.	Control:156 normal Han people;Case:173 type 2 diabetics of Han ethnic origin Northern China										
118076	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795	n	Fingerlin TE et al. 2002	11978669				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Finland	KGB	11132	Hs.112218			Diabetes. 2002 May;51(5):1644-8	Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort.		605286	6704	1	2002	We conclude that  variation in these three SNPs in the calpain-10 gene is unlikely to confer susceptibility to type 2 diabetes in this Finnish cohort.	Control:223 elderly normal glucose-tolerant control subjects;Case:526/255 Finnish subjects with type 2 diabetes ( (526 Finland-U.S. Investigation of NIDDM Genetics [FUSION] 1) and 255 (FUSION 2) index cases)										
118077	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795	n	Horikawa Y 2003	12519860	112/121 haplotype			Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Japanese	Japan	KEW	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2003 Jan;88(1):244-7	Genetic variations in calpain-10 gene are not a major factor in the occurrence of type 2 diabetes in Japanese		605286	6705	1	2003	Though this variation occurs in Japanese more frequently than in Mexican Americans, there is no significant difference in frequency between diabetic (29.9%) and control (31.9%) subjects. We also screened all exons and the putative promoter of the calpain-10 gene for mutations in 96 of the genotyped patients, resulting in the identification of 7 coding variants, including 3 missense mutations and 5 nucleotide alterations in the promoter. However, their frequencies all are similar in patients and controls, suggesting that these genetic variations are not a major factor in the occurrence of type 2 diabetes in Japanese, although they could yet be associated with various phenotypes of the disease.	Control:172:controls;Case:177 Japanese patients with type 2 diabetes										
118078		polycystic ovary	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism|Genetic Predisposition to Disease|Amenorrhea	2	2q37.3	CAPN10	241174817	241205795		Gonzalez A 2003	14602801				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			KGB	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2003 Nov;88(11):5529-36	Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients.		605286	6706	1	2003	Our results confirm the association of UCSNP-44 allele with PCO phenotype in the Spanish population. Moreover, we have identified novel candidate risk alleles and genotypes, within CAPN10 gene, that could be associated with important phenotypic and prognosis differences observed in PCOS patients.	Case:148 Spanish women showing echographically detected polycystic ovaries combined with one or more of;Control:93 unrelated controls										
118072	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Evans JC et al. 2001	11481585				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Great Britain	KGB	11132	Hs.112218			American journal of human genetics. 2001 Sep;69(3):544-52	Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.		605286	6700	1	2001	In conclusion, we were not able to replicate the association of the specific calpain-10 alleles identified by Horikawa et al. but suggest that other alleles at this locus may increase type 2 diabetes risk in the U.K. population.	743 sib-pairs Britain										
118073	Y	reduced beta(3)-adrenoceptor function	OTHER	OTH	Obesity	2	2q37.3	CAPN10	241174817	241205795		Hoffstedt J et al. 2002	12107250				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			KGB	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3362-7	Calpain-10 gene polymorphism is associated with reduced beta(3)-adrenoceptor function in human fat cells.		605286	6701	1	2002	In conclusion, a deletion/insertion polymorphism in the calpain-10 gene (SNP-19) is associated with reduced beta(3)-adrenoceptor function in obesity. This could be of importance for regulating thermogenesis in overweight subjects.	Cohort 240 healthy subjects										
118075	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Horikawa Y et al. 2000	11017071				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		United States|Finland	KGB	11132	Hs.112218			Nature genetics. 2000 Oct;26(2):163-75	Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus.		605286	6703	1	2000												
118068	Y	nephropathy in other diseases	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q33	CALD1	134114710	134306012		Conway, B. R.  et al. 2004	15047636				Caldesmon 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033138.2		Northern Ireland|Ireland	CDC GDPinfo	800	Hs.490203			Diabetes. 2004 Apr;53(4):1162-5	Association Between Variation in the Actin-Binding Gene Caldesmon and Diabetic Nephropathy in Type 1 Diabetes		114213	15535	2	2004	These results suggest a role for the caldesmon gene in susceptibility to diabetic nephropathy in type 1 diabetes.	Control control type 1 diabetic patients;Case type 1 diabetic patients with nephropathy Northern Ireland										
118069	Y	nephrogenic diabetes insipidus	OTHER	OTH	Diabetes Insipidus, Nephrogenic	5	5q35	CANX	179058535	179091245		Morello JP et al. 2001	11389590				Calnexin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001746.3			KGB	821	Hs.567968			Biochemistry. 2001 Jun;40(23):6766-75	Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.		114217	1049	1	2001												
118070		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Tsai HJ et al. 2001	11704924				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Samoa	KGB	11132	Hs.112218			American journal of human genetics. 2001 Dec;69(6):1236-44	Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association.		605286	6698	1	2001	we failed to detect any association between case subjects and control subjects in allele frequencies, haplotype frequencies, or haplotype combinations.	Case:172 unrelated affected type 2 diabetes subjects:Samoa;Control:96 controls subjects not otherwise specified										
118065	Y	periodontitis	IMMUNE	IMM	Periodontitis	7	7q21.3	CALCR	92891734	93041972		Suzuki, A.  et al. 2004	15490304				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2		Japan	CDC GDPinfo	799	Hs.489127			Odontology. 2004 Sep;92(1):43-7	Large-scale investigation of genomic markers for severe periodontitis.		114131	15532	2	2004	These results suggest that SNPs in the GNRH1, PIK3R1, DPP4, FGL2, and CALCR genes are genomic markers for severe periodontitis. Our findings indicate the necessity of analyzing SNPs in genes on a large scale (i.e., genome-wide approach), to identify genomic markers for periodontitis.	Control:19 healthy volunteers;Case:22 Japanese patients with severe periodontitis										
118066		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q32.1	CALCRL	187918075	188021260		Sano, M.  et al. 2005	15797661				Calcitonin receptor-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005795.3			CDC GDPinfo	10203	Hs.470882			American journal of hypertension. 2005 Mar;18(3):403-8	Association study of calcitonin-receptor-like receptor gene in essential hypertension.		114190	15533	2	2005	 Our findings suggest that rs696574 can be used as a genetic marker of EH in women.	Case:209 essential hypertensive patients:Japan;Control:216 age-matched normotensive individuals										
118067	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q33	CALD1	134114710	134306012	0.01	Conway BR 2004	15047636	the -579A>G SNP		5'promoter	Caldesmon 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033138.2	Irish Caucasian	Northern Ireland|Ireland	KGB	800	Hs.490203	diabetic nephropathy		Diabetes. 2004 Apr;53(4):1162-5	Association between variation in the actin-binding gene caldesmon and diabetic nephropathy in type 1 diabetes.		114213	1048	1	2004	These results suggest a role for the caldesmon gene in susceptibility to diabetic nephropathy in type 1 diabetes.	Control control type 1 diabetic patients;Case type 1 diabetic patients with nephropathy Northern Ireland										
118062	Y	kidney stone disease	RENAL	REN	Kidney Calculi|Genetic Predisposition to Disease	7	7q21.3	CALCR	92891734	93041972		Bid, H. K.  et al. 2005	15856322				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			Pediatric nephrology (Berlin, Germany). 2005 Jun;20(6):773-6	Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis.		114131	14732	2	2005	Our results suggest that the effects of VDR (Fok-I) and CTR gene polymorphism contribute to the understanding of the pathogenesis of urinary calculi. It is also suggestive of a potential candidate gene in the search for genetic causes of paediatric calcium oxalate nephrolithiasis.	Case:50 pediatric patients (age 2-14) with kidney stones;Control:60 healthy pediatric individuals (age 4-16)										
118063	Y	bone density; fractures	METABOLIC	MET	Osteoporosis	7	7q21.3	CALCR	92891734	93041972		Bandres, E.  et al. 2005	15966503				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2	Spanish	Spain	CDC GDPinfo	799	Hs.489127			Journal of endocrinological investigation. 2005 Apr;28(4):312-21	Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women.		114131	14733	2	2005												
118064		breast cancer	CANCER	CAN		7	7q21.3	CALCR	92891734	93041972		Nakamura, M.  et al. 1999	14965723				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2	Japanese		CDC GDPinfo	799	Hs.489127			Breast (Edinburgh, Scotland). 1999 Jun;8(3):104-6	Genetic variants of calcitonin receptor and breast cancer in Japanese		114131	15531	2	1999	These results indicate that allelic variation of the CTR gene is not a significant risk factor for the development of breast carcinoma in Japanese women. Further studies are needed to clarify the role of CT and CTR in human breast tissue.	Case:46 Japanese breast cancer patients;Control:50 peripheral blood samples										
118058	Y	bone density	METABOLIC	MET	Body Weight	7	7q21.3	CALCR	92891734	93041972		Braga, V.  et al. 2000	11136533				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2		Italy	CDC GDPinfo	799	Hs.489127			Calcified tissue international. 2000 Nov;67(5):361-366	Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women.		114131	14696	2	2000	These findings suggest an association between the COLIA1 gene polymorphism more with the age-related rate of bone loss than with peak bone mass, which apparently is somewhat affected by CTR gene polymorphism.	Cohort 663/52 663 postmenopausal (aged 48-85 years) and 52 perimenopausal (aged 47-53 years) women. 										
118059		body mass; bone density	METABOLIC	MET		7	7q21.3	CALCR	92891734	93041972		Nakamura, M.  et al. 2001	11353946				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2	Japanese		CDC GDPinfo	799	Hs.489127			Calcified tissue international. 2001 Apr;68(4):211-5	Calcitonin receptor gene polymorphism in japanese women: correlation with body mass and bone mineraldensity.		114131	14699	2	2001	In combined analysis of the VDR genotype (B,b) and the CTR genotype (C,T), the body height was found to be significantly different between CCB and others (P = 0.0236). In addition, analysis of the CTR genotypic frequency using 64 blood samples from Japanese and 47 blood samples from Caucasians indicated that there was a significant difference between the two races	Cohort 152 healthy women aged 16-43 Japan 										
118060	Y	bone density	METABOLIC	MET	Osteoporosis	7	7q21.3	CALCR	92891734	93041972		Braga, V.  et al. 2002	12016463				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2		Italy	CDC GDPinfo	799	Hs.489127			Calcified tissue international. 2002 Jun;70(6):457-62	Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men.		114131	14702	2	2002	In conclusion, the polymorphism of CTR gene but not VDR and COLIA1 is associated with osteoporosis incidence and the levels of alkaline phosphatase and estradiol. The lower BMD in CC genotype is apparently associated in males with depressed bone formation and lower estradiol levels.	Cohort 253 a sample of unrelated Italian men 										
118054	Y	bone density	METABOLIC	MET		7	7q21.3	CALCR	92891734	93041972		Zhao, H. Y.  et al. 2003	12905735				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2003 Jun;25(3):258-61	[Association of calcitonin receptor gene polymorphism with bone mineral density in Shanghai women]		114131	8968	2	2003	 The polymorphism of CTR gene was associated with BMD in postmenopausal women.	Cohort 184/199 premenopausal (n=184) and postmenopausal (n=199) women 										
118055	Y	bone density	METABOLIC	MET		7	7q21.3	CALCR	92891734	93041972		Zofkova, I. = I et al. 2003	14614653				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			Experimental and clinical endocrinology & diabetes. 2003 Oct;111(7):447-9	Does polymorphism C1377T of the calcitonin receptor gene determine bone mineral density in postmenopausal women?		114131	8969	2	2003	In conclusion, the CALCR gene is associated with bone mass at the femoral neck in postmenopausal women.	Cohort 114 postmenopausal women 										
118056	Y	hormone disturbance	METABOLIC	MET		7	7q21.3	CALCR	92891734	93041972		Zofkova, I.  et al. 2004	15279076				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			Journal of endocrinological investigation. 2004 May;27(5):442-4	Postmenopausal serum androstenedione levels are associated with the calcitonin receptor gene polymorphism T1377c. A pilot study		114131	8970	2	2004	We postulate that the 3beta-hydroxysteroid dehydrogenase activity is associated with C allele at least in C19 steroids. The data correspond with the functionality of CALCR.	Cohort 113 postmenopausal women 										
118050	Y	decreased fracture risk	OTHER	OTH	Osteoporosis, Postmenopausal|Fractures, Bone|Body Weight	7	7q21.3	CALCR	92891734	93041972		Taboulet J et al. 1998	9817931				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			KGB	799	Hs.489127			Human molecular genetics. 1998 Dec;7(13):2129-33	Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.		114131	1047	1	1998												
118051	Y	calcium oxalate stones	OTHER	OTH	Urinary Calculi|Recurrence	7	7q21.3	CALCR	92891734	93041972		Chen, W. C.  et al. 2001	11464063				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			European urology. 2001 Jun;39(6):716-9	Calcitonin receptor gene polymorphism: a possiblegenetic marker for patients with calcium oxalate stones.		114131	8965	2	2001	 Results show that the polymorphism in the calcitonin receptor gene could be a genetic marker for urinary stone disease and therefore it is worthwhile pursuing further studies of the leucine allele of calcitonin receptor gene due to it is strongly correlated with stone disease.	Case:102 patients with recurrent calcium oxalate stones;Control:105 healthy people, not otherwise specified in abstract										
118052	Y	bone loss	OTHER	OTH	Alveolar Bone Loss|Mandibular Diseases|Maxillary Diseases	7	7q21.3	CALCR	92891734	93041972		Nosaka, Y.  et al. 2002	11858573				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			The International journal of oral & maxillofacial implants. 2002 Jan-Feb;17(1):38-43	Association of calcitonin receptor gene polymorphism with early marginal bone loss around endosseous implants.		114131	8966	2	2002	 Although further genetic research should be conducted, it is suggested that the CTR genetic test could become a useful tool in the planning of treatment before implant surgery and lead to more predictable implant treatment.	Cohort 35 patients receiving a total of 237 implants (89 implants were placed in maxillae and 148 implants in mandibles) 	smoking (tobacco)									
118046		bone density; bone responsiveness	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p15.2-p15.1	CALCA	14944791	14950408		Kim, J. G.  et al. 2003	14627864				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2	Korean	Korea	CDC GDPinfo	796	Hs.37058			Menopause (New York, NY). 2003 Nov-Dec;10(6):544-9	Association of the calcitonin gene (CA) polymorphism with bone mass and bone responsiveness to hormone therapy in postmenopausal Korean women		114130	8963	2	2003	 The calcitonin (CA) polymorphism is one of the genetic factors that may affect BMD changes at the femoral neck after HT in Korean women.	Cohort 430 postmenopausal Korean women Korea 	hormone replacement therapy									
118047	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11p15.2-p15.1	CALCA	14944791	14950408		Goodman, M. T.  et al. 2005	15880427	CALCA-624 (T/C)			Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2		Hawaii|Japan	CDC GDPinfo	796	Hs.37058			Environmental and molecular mutagenesis. 2005 Jul;46(1):53-8	Calcitonin gene polymorphism CALCA-624 (T/C) and ovarian cancer.		114130	8964	2	2005	These preliminary data suggest a strong positive association of the CALCA C allele with the risk of ovarian cancer among some subgroups.	Case:182 histologically confirmed ovarian cancer cases;Control:219:controls	oral contraceptive pregnancy									
118049	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	7	7q21.3	CALCR	92891734	93041972		Masi L et al. 1998	9675109				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2	Italian	Italy	KGB	799	Hs.489127			Biochemical and biophysical research communications. 1998 Jul;248(1):190-5	Polymorphisms of the calcitonin receptor gene are associated with bone mineral density in postmenopausal Italian women.		114131	1046	1	1998												
118043	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p15.2-p15.1	CALCA	14944791	14950408		Miyao M et al. 2000	11185743				calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2			KGB	796	Hs.37058			Journal of human genetics. 2000 ;45(6):346-50	Association of bone mineral density with a dinucleotide repeat polymorphism at the calcitonin (CT) locus.		114130	1044	1	2000												
118044		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p15.2-p15.1	CALCA	14944791	14950408		Miyao, M.  et al. 2000	11185743				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2			CDC GDPinfo	796	Hs.37058			Journal of human genetics. 2000 ;45(6):346-50	Association of bone mineral density with a dinucleotide repeat polymorphism at the calcitonin (CT) locus		114130	8961	2	2000	The significant association observed between BMD and genetic variations at the CT locus implies that polymorphism at this locus may be a useful marker for the genetic study of osteoporosis.	Cohort 311 Japanese postmenopausal women 										
118045	N	Parkinson's disease; schizophrenia; depression, manic	NEUROLOGICAL	NEUR	Parkinson Disease|Bipolar Disorder|Schizophrenia	11	11p15.2-p15.1	CALCA	14944791	14950408		Buervenich, S.  et al. 2001	11317366				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2		United States|Sweden	CDC GDPinfo	796	Hs.37058			Human mutation. 2001 May;17(5):435-6	Identification of four novel polymorphisms in the calcitonin/alpha-CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression.		114130	8962	2	2001	No statistically significant association was found in our material. The 16-bp microdeletion polymorphism was present in a family with multiple cases of unipolar or bipolar depressive disorder. Using this polymorphism as marker, cosegregation with the phenotype was observed in the majority of individuals.	Control:150 unrelated Caucasian individuals:Sweden;Case:75 Caucasian schizophrenic patients:Sweden;Case:79 Caucasian Parkinson's patients:Sweden										
118040		periodic paralysis	NEUROLOGICAL	NEUR	Hypokalemic Periodic Paralysis	1	1q32	CACNA1S	199275262	199348317		Lin, S. H.  et al. 2005	15711422				Calcium channel, voltage-dependent, L type, alpha 1S subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000069.1	Chinese	Taiwan	CDC GDPinfo	779	Hs.1294			The American journal of the medical sciences. 2005 Feb;329(2):66-70	Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.		114208	15529	2	2005	 Patients with FPP have R528H mutations in the CACNA1S gene. Only a few patients with SPP may share similar mutations with FPP. TPP patients do not carry any of the three known gene mutations.	Case:36/12 Chinese patients with thyrotoxic periodic paralysis (36), familial periodic paralysis (12),;Control:50 unrelated controls										
118041		thyrotoxic periodic paralysis	UNKNOWN	UNK	Hypokalemic Periodic Paralysis|Hyperthyroidism|Thyrotoxicosis	1	1q32	CACNA1S	199275262	199348317		Ng, W. Y.  et al. 2004	15072700				Calcium channel, voltage-dependent, L type, alpha 1S subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000069.1			CDC GDPinfo	779	Hs.1294			Thyroid. 2004 Mar;14(3):187-90	Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis		114208	19321	2	2004	These results suggest that despite close similarities between TPP and hypoKPP, a likely genetic basis for TPP does not involve the same gene mutations associated with hypoKPP.	Control:32 healthy subjects;Case:48/1 patients with hyperthyroidism resulting from Graves' disease (n=48) and 1 patient with idiopathic hypoKPP (a 32-year-old male)										
118042		longevity	AGING	AGE		2	2p22-p21	CAD	27293761	27320158		Stessman, J.  et al. 2005	15621215				Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004341.3			CDC GDPinfo	790	Hs.377010			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		114010	20636	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
118037	Y	optic disc atrophy	VISION	VIS	Optic Atrophy|Vision Disorders|Eye Diseases, Hereditary|Retinal Diseases|Atrophy	X	Xp11.23	CACNA1F	48948466	48976777		Nakamura M 2003	12860808				Calcium channel, voltage-dependent, alpha 1F subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005183.2	Japanese	Japan	KGB	778	Hs.632799			Archives of ophthalmology. 2003 Jul;121(7):1028-33	Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.		300110	1043	1	2003	 These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function.Clinical Relevance In patients with retinal and optic disc atrophy associated with negative-type electroretinograms, a CACNA1F gene mutation should be considered.											
118038	Y	childhood absence epilepsy.	OTHER	OTH	Epilepsy, Absence	16	16p13.3	CACNA1H	1143241	1211773		Chen Y 2003	12891677				Calcium channel, voltage-dependent, alpha 1H subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021098.2		China	KGB	8912	Hs.459642			Annals of neurology. 2003 Aug;54(2):239-43	Association between genetic variation of CACNA1H and childhood absence epilepsy.		607904	6604	1	2003	Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.	Case:118 childhood absence epilepsy patients of Han:ethnicity north China;Control:230 unrelated controls										
118039	Y	epilepsy	OTHER	OTH	Epilepsy, Absence	16	16p13.3	CACNA1H	1143241	1211773		Chen, Y.  et al. 2003	12891677				Calcium channel, voltage-dependent, alpha 1H subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021098.2		China	CDC GDPinfo	8912	Hs.459642			Annals of neurology. 2003 Aug;54(2):239-43	Association between genetic variation of CACNA1H and childhood absence epilepsy.		607904	15528	2	2003	Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.	Case:118 childhood absence epilepsy patients of Han:ethnicity north China;Control:230 unrelated controls										
118034		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Kim, J. Y.  et al. 2001	11804332				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2	Korean	Korea	CDC GDPinfo	773	Hs.590993			Molecules and cells. 2001 Dec;12(3):336-41	Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1,SCA2, SCA3, SCA6, and SCA7		601011	26800	2	2001	This mutation spectrum is quite different from a previous report concerning Koreans, but is similar to the distributions that are seen in several ethnic populations worldwide. For a correct and effective diagnosis of SCAs, we suggest that a molecular diagnosis be undertaken, even in patients without a family history, as well as those with a family history. A stepwise approach is also recommended. Patients with ataxia should be tested for SCA2 and SCA3. Individuals testing negative should be tested for SCA1, SCA6, and SCA7.	Cohort 76 spincerebellar ataxic patients Korea 										
118035		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	19	19p13.2-p13.1	CACNA1A	13179114	13478317			16389595				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		601011	26801	2	2006												
118036	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1	3	3p14.3	CACNA1D	53504115	53821001		Yamada, Y.  et al. 2001	11424233				Calcium channel, voltage-dependent, L type, alpha 1D subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000720.1	Japanese	Japan	CDC GDPinfo	776	Hs.476358			Diabetes. 2001 May-Jun;17(3):213-6	Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients.		114206	15527	2	2001	 Although variations of the Kir6.2 and alpha(1D) genes are not associated with the development of common type 2 diabetes, further studies may determine the role of these genomic variations, especially those in the alpha(1D) VDCC gene, in the pathogenesis of certain subsets of type 2 diabetes, or as a co-factor in the polygenic disorder generally.	Case type 2 diabetic patients;Control normal subjects										
118031		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Vertigo|Spinocerebellar Ataxias	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Takahashi, H.  et al. 2004	15362569				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Journal of human genetics. 2004 ;49(5):256-64	A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.		601011	15526	2	2004	We conclude that  total number of CAG repeat-units in both alleles is a good parameter for assessment of age of onset in SCA6 including homozygous patients. In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction.	Cohort 140 spinocerebellar ataxia type 6 patients 										
118032		ataxia (SCA)	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Izumi, Y.  et al. 2003	12545428				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2		Japan	CDC GDPinfo	773	Hs.590993			American journal of human genetics. 2003 Mar;72(3):704-9	SCA8 repeat expansion: large CTA/CTG repeat allelesare more common in ataxic patients, including those with SCA6		601011	17950	2	2003	We speculate that the presence of a large SCA8 CTA/CTG repeat allele influences the function of channels such as alpha(1A)-voltage-dependent calcium channel through changing or aberrant splicing, resulting in the development of cerebellar ataxia, especially in homozygous patients.	Case a large group of Japanese subjects with SCA;Control healthy controls										
118033		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias|Myoclonic Epilepsies, Progressive	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Wu, Y.  et al. 2004	14756671				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2		Taiwan	CDC GDPinfo	773	Hs.590993			Clinical genetics. 2004 Mar;65(3):209-14	Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8and SCA17 are associated with typical Parkinson's disease.		601011	26799	2	2004	This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.	Cohort normal subjects and patients with ataxia and Parkinson's disease 										
118028	N	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Lea, R. A.  et al. 2001	11803518				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			American journal of medical genetics. 2001 Dec;105(8):707-12	Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility.		601011	15523	2	2001	We did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.	Case cases of migraine;Control not specified in abstract										
118029		migraine, hemiplegic	NEUROLOGICAL	NEUR	Cerebellar Ataxia|Migraine with Aura	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Terwindt, G.  et al. 2002	12056940				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Archives of neurology. 2002 Jun;59(6):1016-8	Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.		601011	15524	2	2002	 Most patients with SHM do not have a CACNA1A mutation. The results of this study, combined with the findings reported in the literature, show that the presence of cerebellar symptoms in addition to the hemiplegic attacks increases the chance of finding a CACNA1A mutation. In addition, to our knowledge, we have found a first patient with SHM without cerebellar signs with a mutation.	Cohort 27 patients with sporadic hemiplegic migraine 										
118030		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Vertigo|Spinocerebellar Ataxias	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Takahashi, H.  et al. 2004	15362569				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Journal of human genetics. 2004 ;49(5):256-64	A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6		601011	15525	2	2004	We conclude that  total number of CAG repeat-units in both alleles is a good parameter for assessment of age of onset in SCA6 including homozygous patients. In addition, clinical and neuro-otological examinations suggested that SCA6 is a disease with predominantly cerebellar dysfunction.	Cohort 140 spinocerebellar ataxia type 6 patients 										
118025	N	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Sjostrand, C.  et al. 2001	11843866				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Cephalalgia. 2001 Dec;21(10):953-8	CACNA1A gene polymorphisms in cluster headache.		601011	8959	2	2001	We conclude that  an importance of the CACNA1A gene in sporadic CH is unlikely.	Control:108 matched controls;Case:75 patients with cluster headache										
118026	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Sander, T.  et al. 2002	12049805				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Epilepsy research. 2002 Apr;49(2):173-7	Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.		601011	8960	2	2002	Accordingly, we failed to confirm previous evidence that genetic variation of the CACNA1A gene confers susceptibility to common IGE syndromes.	Case:118 idiopathic generalized epilepsy patients;Control:186 healthy German control subjects										
118027	Y	migraine	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Terwindt, G. M.  et al. 2001	11320173				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			CDC GDPinfo	773	Hs.590993			Neurology. 2001 Apr;56(8):1028-32	Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.		601011	15522	2	2001	 The increased allele sharing in the CACNA1A gene region on 19p13 is consistent with an important involvement of this region in migraine, especially migraine with aura.	Case:189 affected siblings from 36 extended families with typical migraine with or without aura										
118022	Y	episodic ataxia type 2	OTHER	OTH	Cerebellar Ataxia	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Kaunisto MA 2004	14530926	IVS36-2A>G, at the 3' acceptor splice site of intron 36			Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			KGB	773	Hs.590993			Neurogenetics. 2004 Feb;5(1):69-73	Novel splice site CACNA1A mutation causing episodic ataxia type 2.		601011	1040	1	2004												
118023		schizophrenia	PSYCH	PSY	Epilepsy, Absence|Migraine Disorders|Genetic Predisposition to Disease|	19	19p13.2-p13.1	SCA6	13418908	13419016		Breen G et al. 1999	10412193				calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U79666		Scotland	KGB	773	Hs.408449			Psychiatric genetics. 1999 Jun;9(2):111-3	Association study of the CACN1A4 (SCA6) triplet repeat and schizophrenia.		601011	1041	1	1999	We conclude that  the SCA6 CAG repeat is not associated with schizophrenia susceptibility. However, it remains possible that other variants in the region could be involved.											
118024	Y	spinocerebellar ataxia type 6	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	19	19p13.2-p13.1	SCA6	13418908	13419016		Kato T et al. 2000	10945665				calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U79666			KGB	773	Hs.408449			Clinical genetics. 2000 Jul;58(1):69-73	Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.		601011	1042	1	2000												
118018		C7 deficiency	HEMATOLOGICAL	HEM	Meningococcal Infections|Opportunistic Infections|Disease Susceptibility	5	5p13	C7	40945355	41018798		Vazquez-Bermudez MF 2003	12869030				Complement component 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000587.2	Spanish		KGB	730	Hs.78065			Clinical and experimental immunology. 2003 Aug;133(2):240-6	Complement component C7 deficiency in a Spanish family.		217070	1038	1	2003												
118020		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	22	22q11.23	CABIN1	22737764	22904596		Saito, T.  et al. 2004	15063762				Calcineurin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012295.2		Japan	CDC GDPinfo	23523	Hs.517478			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		604251	26798	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
118021	Y	cerebellar ataxia	OTHER	OTH	Cerebellar Ataxia	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Ishikawa K et al. 1997	9311738				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2	Japanese	Japan	KGB	773	Hs.590993			American journal of human genetics. 1997 Aug;61(2):336-46	Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.		601011	1039	1	1997	We conclude that  more than half of Japanese cases of ADPCA map to 19p13.1-p13.2 and are strongly associated with the mild CAG expansion in the SCA6/CACNL1A4 gene.											
118014		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		Allen, M.  et al. 2005	15654960				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475			CDC GDPinfo	54535	Hs.485075			The Journal of investigative dermatology. 2005 Jan;124(1):103-6	The Major Psoriasis Susceptibility Locus PSORS1 Is not a Risk Factor for Late-Onset Psoriasis		605310	24580	2	2005	These data suggest that the exclusion of LOP subjects from case-control studies will aid further delineation of the PSORS1 locus. Future genome-wide studies will be required to identify loci conferring risk for late-onset disease.	Case:145 patients with late-onset psoriasis;Control:309 normal controls										
118015	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Genetic Predisposition to Disease	5	5p13	C7	40945355	41018798	n	Chataway J et al. 1999	10496188				Complement component 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000587.2			KGB	730	Hs.78065			Journal of neuroimmunology. 1999 Sep;99(1):150-6	No evidence for association of multiple sclerosis with the complement factors C6 and C7.		217070	1035	1	1999												
118016		C7 deficiency	HEMATOLOGICAL	HEM		5	5p13	C7	40945355	41018798		Fernie BA et al. 1999	10394053				Complement component 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000587.2			KGB	730	Hs.78065			Experimental and clinical immunogenetics. 1999 ;16(3):150-61	Five new polymorphisms in the complement C7 gene and their association with C7 deficiency.		217070	1036	1	1999												
118011	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		O'Brien, K. P.  et al. 2001	11348465				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475			CDC GDPinfo	54535	Hs.485075			The Journal of investigative dermatology. 2001 May;116(5):750-4	The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.		605310	17100	2	2001	We conclude that  HCR polymorphisms display association with psoriasis due to linkage disequilibrium with Cw*0602 and is, therefore, unlikely to be directly involved in the development of psoriasis.	Control:38 population-matched controls:Sweden;Case:42 psoriasis patients:Sweden										
118012		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CCHCR1	31218194	31233950		Allen, M.  et al. 2005	15654960				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019052.2			CDC GDPinfo	54535	Hs.485075			The Journal of investigative dermatology. 2005 Jan;124(1):103-6	The Major Psoriasis Susceptibility Locus PSORS1 Is not a Risk Factor for Late-Onset Psoriasis		605310	17101	2	2005	These data suggest that the exclusion of LOP subjects from case-control studies will aid further delineation of the PSORS1 locus. Future genome-wide studies will be required to identify loci conferring risk for late-onset disease.	Case:145 patients with late-onset psoriasis;Control:309 normal controls										
118013		psoriasis; psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		Lascorz, J.  et al. 2004	15539411				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475	Caucasian		CDC GDPinfo	54535	Hs.485075			Annals of the rheumatic diseases. 2005 Jun;64(6):951-4	Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort.		605310	21692	2	2004	 The lack of genetic association between the most common Crohn's disease alleles of the CARD15 gene and psoriatic joint disease on large cohorts of white patients does not support a recently claimed role for CARD15 as the first non-MHC susceptibility gene in the pathogenesis of psoriatic arthritis, but confirms and extends previous studies in the case of psoriasis vulgaris.	Case:375/281 patients with psoriatic arthritis (n=375) and patients with psoriasis vulgaris without joint:involvement (n=281);Control:376:controls										
118008	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Genetic Predisposition to Disease	5	5p13	C6	41178092	41297297	n	Chataway J et al. 1999	10496188				Complement component 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000065.1			KGB	729	Hs.481992			Journal of neuroimmunology. 1999 Sep;99(1):150-6	No evidence for association of multiple sclerosis with the complement factors C6 and C7.		217050	1033	1	1999												
118009	Y	deficiencies of C6	OTHER	OTH		5	5p13	C6	41178092	41297297		Fernie BA et al. 1995	7625765				complement component 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000065.1			KGB	729	Hs.481992			Annals of human genetics. 1995 Apr;59(Pt 2):183-95	Complement component C6 and C7 haplotypes associated with deficiencies of C6.		217050	1034	1	1995												
118010	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		Chang, Y. T.  et al. 2004	15214895				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475	Chinese	Taiwan	CDC GDPinfo	54535	Hs.485075			The British journal of dermatology. 2004 Jun;150(6):1104-11	Genetic polymorphisms of the HCR gene and a genomic segment in close proximity to HLA-C are associated with patients with psoriasis in Taiwan.		605310	11009	2	2004	 Our results indicate that the HCR gene, SNP n.7*A, and SNP n.9*C as well as Cw*0602 are major susceptibility markers for psoriasis in Chinese patients.	Control:103 control subjects;Case:115 Chinese patients with psoriasis										
118004		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	C4B	32057812	32078435		Ittiprasert, W.  et al. 2005	15998580				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029	Thai		CDC GDPinfo	432395	Hs.534847			Journal of autoimmunity. 2005 Aug;25(1):77-84	Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations.		120820	20635	2	2005												
118005		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	9	9q33-q34	C5	122754434	122852375		Hasegawa, K.  et al. 2004	15278436				Complement component 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001735.2		Japan	CDC GDPinfo	727	Hs.494997			Human genetics. 2004 Sep;115(4):295-301	Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma		120900	24100	2	2004	These results suggest that the C3 and C5 pathways of the complement system play important roles in the pathogenesis of BA and that polymorphisms of these genes affect susceptibility to BA.	Control:controls;Case Japanese adult and childhood bronchial asthma:patients										
118006	N	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity	19	19q13.3-q13.4	C5R1	52504943	52517167		Barnes, K. C.  et al. 2004	15144465			promoter	Complement component 5 receptor 1 (C5a ligand)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001736		Barbados|United States|Germany	CDC GDPinfo	728	Hs.2161			Clinical and experimental allergy. 2004 May;34(5):736-44	A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations.		113995	8958	2	2004	 This new marker may provide a valuable tool to assess the risk for C5a-associated disorders, but it does not appear to be associated with asthma and/or atopy.	Cohort 146 individuals from Tangier Island, Virginia, a Caucasian isolate Cohort 823 German children from The Multicenter Allergy Study 										
118000		cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	6	6p21.3	C4B	32057812	32078435		Kramer, J.  et al. 2000	11062289				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029			CDC GDPinfo	432395	Hs.534847			Stroke; a journal of cerebral circulation. 2000 Nov;31(11):2648-52	Frequencies of certain complement protein alleles and serum levels of anti-heat-shock protein antibodies in cerebrovascular diseases.		120820	8957	2	2000	 In previous studies C4B*Q0 frequency was reported to be higher in CHD patients aged 45 to 60 years than in aged-matched controls. Moreover, high anti-hsp60 levels were found in CHD patients. These findings contrast with our present report of lower frequency of C4B*Q0 in CVD patients. Therefore, genetic and immunologic factors may at least partly explain the differences between the natural history and risk factors of CHD and CVD.	Control:198485 198 healthy blood donors and 485 healthy elderly (aged >60 years) people (genetic study) or 94 blood donors aged 45 to 60 years and 49 healthy elderly (aged >60 years) people (anti-heat-shock protein:[hsp] measurements).;Case:292 patients with CVD (stroke or transient ischemic:attack)										
118001	Y	longevity	AGING	AGE		6	6p21.3	C4B	32057812	32078435		Arason, G. J.  et al. 2003	15033778				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029			CDC GDPinfo	432395	Hs.534847			Annals of the New York Academy of Sciences. 2003 Dec;1010:496-9	An Age-Associated Decrease in the Frequency of C4B(*)Q0 Indicates That Null Alleles of Complement May Affect Health or Survival		120820	20632	2	2003	These results confirm our previous observations on Hungarian subjects and suggest a negative effect of C4B(*)Q0 on health or survival.	Cohort 423 healthy Icelandic subjects Iceland 										
118002		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	C4B	32057812	32078435		Dragon-Durey, M. A.  et al. 2001	11168010				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029			CDC GDPinfo	432395	Hs.534847			Clinical and experimental immunology. 2001 Jan;123(1):133-9	Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).		120820	20633	2	2001	Our results argue against a specific role for C4A gene deficiency in determining disease susceptibility among patients with SLE that are C4-deficient.	Cohort 125 unselected patients with systemic lupus erythematosus 										
117996		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12p13.31	C3AR1	8102185	8110222		Hasegawa, K.  et al. 2004	15278436				Complement component 3a receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004054.2		Japan	CDC GDPinfo	719	Hs.591148			Human genetics. 2004 Sep;115(4):295-301	Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma		605246	20630	2	2004	These results suggest that the C3 and C5 pathways of the complement system play important roles in the pathogenesis of BA and that polymorphisms of these genes affect susceptibility to BA.	Control:controls;Case Japanese adult and childhood bronchial asthma:patients										
117997	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	MBOAT5	6955608	6996103		Poncet D et al. 1981	7318338				Putative protein similar to nessy (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647983			KGB	10162	Hs.553512			Clin Sci (Lond).. 1981 Dec;61 Suppl 7:363s-365s	Association between the C3F-gene and essential hypertension.			6655	1	1981												
117998	Y	hypertension	CARDIOVASCULAR	CARD	Osteoarthritis|Migraine Disorders|Coronary Disease|Hypertension	12	12p13	MBOAT5	6955608	6996103		Peroutka SJ et al. 1997	9051331				Putative protein similar to nessy (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647983			KGB	10162	Hs.553512			Cephalalgia. 1997 Feb;17(1):23-6	The comorbid association of migraine with osteoarthritis and hypertension: complement C3F and Berkson's bias.			6656	1	1997												
117999		autism	PSYCH	PSY	Autoimmune Diseases|Autistic Disorder	6	6p21.3	C4B	32057812	32078435		Warren RP et al. 1995	7760985				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029			KGB	432395	Hs.534847			Neuropsychobiology. 1995 ;31(2):53-7	DR-positive T cells in autism: association with decreased plasma levels of the complement C4B protein.		120820	6874	1	1995												
117993		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19p13.3-p13.2	C3	6628845	6671662		Hasegawa, K.  et al. 2004	15278436				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1		Japan	CDC GDPinfo	718	Hs.529053			Human genetics. 2004 Sep;115(4):295-301	Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma		120700	15521	2	2004	These results suggest that the C3 and C5 pathways of the complement system play important roles in the pathogenesis of BA and that polymorphisms of these genes affect susceptibility to BA.	Control:controls;Case Japanese adult and childhood bronchial asthma:patients										
117994		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	19	19p13.3-p13.2	C3	6628845	6671662			11785295				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			CDC GDPinfo	718	Hs.529053			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		120700	20629	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
117995		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		19	19p13.3-p13.2	C3	6628845	6671662		Scheil, H. G.  et al. 2004	15648851				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			CDC GDPinfo	718	Hs.529053			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		120700	24099	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
117989	Y	asthma	IMMUNE	IMM	Asthma	19	19p13.3-p13.2	C3	6628845	6671662		Fathman CG et al. 1985	4029967				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			KGB	718	Hs.529053			Human heredity. 1985 ;35(4):263-4	Association between C3 complement types and bronchial asthma.		120700	1028	1	1985												
117991		longevity	AGING	AGE		19	19p13.3-p13.2	C3	6628845	6671662		Arason, G. J.  et al. 2003	15033778				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			CDC GDPinfo	718	Hs.529053			Annals of the New York Academy of Sciences. 2003 Dec;1010:496-9	An Age-Associated Decrease in the Frequency of C4B(*)Q0 Indicates That Null Alleles of Complement May Affect Health or Survival		120700	8955	2	2003	These results confirm our previous observations on Hungarian subjects and suggest a negative effect of C4B(*)Q0 on health or survival.	Cohort 423 healthy Icelandic subjects Iceland 										
117992	Y	asthma	IMMUNE	IMM		19	19p13.3-p13.2	C3	6628845	6671662			16355111				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1	African Caribbean families		CDC GDPinfo	718	Hs.529053			Genes and immunity. 2006 Jan;7(1):27-35	Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families		120700	15517	2	2005												
117985	Y	C2-deficiency gene	HEMATOLOGICAL	HEM		6	6p21.3	C2	31973542	32021427		Poncet D et al. 1982	7086154				Complement component 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000063.3			KGB	717	Hs.408903			Journal of immunogenetics. 1982 Apr;9(2):127-32	Association of the C2-deficiency gene (C2*QO) with the C4A*4 C4B*2 genes.		217000	1025	1	1982												
117986		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	6	6p21.3	C2	31973542	32021427		Tsao, B. P.   2002	12126589				Complement component 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000063.3			CDC GDPinfo	717	Hs.408903			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		217000	19928	2	2002	Review article											
117988	N	scar hypertrophy	OTHER	OTH	Cicatrix, Hypertrophic	19	19p13.3-p13.2	C3	6628845	6671662	n	Yip SP et al. 1993	8395174				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			KGB	718	Hs.529053			Burns. 1993 Aug;19(4):297-301	No association found between C3 alleles and scar hypertrophy.		120700	1027	1	1993												
117981	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13	C1r	7057769	7136184	n	Rosenmann H et al. 2003	12499050				Complement component 1, r subcomponent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001733		Israel	KGB	715	Hs.524224			Neuroscience letters. 2003 Jan;336(2):101-4	A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease.		216950	1023	1	2003		Case Alzheimer's disease patients;Control:controls										
117983		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13	C1R	7057769	7136184		Rosenmann, H.  et al. 2003	12499050				Complement component 1, r subcomponent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001733		Israel	CDC GDPinfo	715	Hs.524224			Neuroscience letters. 2003 Jan;336(2):101-4	A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease.		216950	20628	2	2003		Case Alzheimer's disease patients;Control:controls										
117984		diffuse systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	6	6p21.3	C2	31973542	32021427		Venneker GT et al. 1998	9691203				Complement component 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000063.3			KGB	717	Hs.408903			Experimental and clinical immunogenetics. 1998 ;15(2):90-9	Molecular heterogeneity of second and fourth components of complement and their genes in systemic sclerosis and association of HLA alleles A1 B8 and DR3 with limited and DR5 with diffuse systemic sclerosis.		217000	1024	1	1998												
117978		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	18	18q11.2	C18orf8	19337459	19365742		Lindmark, F.  et al. 2004	15316060				Chromosome 18 open reading frame 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013326.3		Sweden	CDC GDPinfo	29919	Hs.529006			Journal of the National Cancer Institute. 2004 Aug;96(16):1248-54	H6D polymorphism in macrophage-inhibitory cytokine-1 gene associated with prostate cancer.		605312	12363	2	2004	 This study shows an association between a nonsynonymous change (H6D) in the MIC-1 gene and prostate cancer. This finding supports the hypothesis that genetic variation in the inflammatory process contributes to prostate cancer susceptibility.	Case:1,383 prostate cancer patients:Sweden;Control:780 control subjects										
117979		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	19	19p13.3	C19orf10	4608556	4621415		Buning, C.  et al. 2003	14641539				Chromosome 19 open reading frame 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019107.3			CDC GDPinfo	56005	Hs.465645			European journal of immunogenetics. 2003 Oct;30(5):329-33	The interleukin-25 gene located in the inflammatory bowel disease (IBD) 4 region: no association withinflammatory bowel disease.		606746	15516	2	2003	In summary, our data indicate that genetic alterations in the coding regions of the IL-25 gene are unlikely to play a role in IBDs, but the c424C/A polymorphism in the IL-25 gene should be investigated for a potential association with other chronic inflammatory and inherited disorders such as autoimmune diseases.	Control:119 healthy controls;Case:151/111 patients with Crohn's disease (n=151) and patients with ulcerative colitis (n=111)										
117980	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Cutaneous	1	1p36.3-p34.1	C1QA	22835704	22838762		Racila, D. M.  et al. 2003	12630757				Complement component 1, q subcomponent, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015991.2			CDC GDPinfo	712	Hs.632379			Lupus. 2003 ;12(2):124-32	Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus.		120550	8953	2	2003	This SNP would traditionally be classified as clinically silent as it does not encode a different amino acid. However, our studies have suggested that this SNP appears to be associated with a functional abnormality of C1q expression since its presence correlates inversely with serum levels of C1q antigenic protein in both SCLE patients and normal controls. The mechanism by which this phenotypic change is associated with the translationally silent (synonymous) ClqA-Gly70GGA genetic variation is currently unknown.	Case:19 systemic lupus erythematosus patients;Control:62 normal controls										
117975	N	mood disorders	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	22	22q13.31	BZRP	41877479	41889191	n	Kurumaji A et al. 2001	11304832				Benzodiazapine receptor (peripheral)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537892	Japanese	Japan	KGB	706				American journal of medical genetics. 2001 Mar;105(2):172-5	No association of two missense variations of the benzodiazepine receptor (peripheral) gene and mood disorders in a Japanese sample.		109610	1021	1	2001	These results do not suggest that the BZRP gene plays a role in the genetic predisposition of affective disorders	Control:359 unrelated healthy volunteers consisting of paramedical staff members documented to be free of psychosis (n=193) and corporate employees who had not been evaluated for psychiatric disorders:Japan;Case:94 patients with bipolar disorders:Japan;Ca										
117976	N	bipolar disorder; depression	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	22	22q13.31	BZRP	41877479	41889191		Kurumaji, A.  et al. 2001	11304832				Benzodiazapine receptor (peripheral)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537892	Japanese	Japan	CDC GDPinfo	706				American journal of medical genetics. 2001 Mar;105(2):172-5	No association of two missense variations of the benzodiazepine receptor (peripheral) gene and mood disorders in a Japanese sample.		109610	15515	2	2001	These results do not suggest that the BZRP gene plays a role in the genetic predisposition of affective disorders	Control:359 unrelated healthy volunteers consisting of paramedical staff members documented to be free of psychosis (n=193) and corporate employees who had not been evaluated for psychiatric disorders:Japan;Case:94 patients with bipolar disorders:Japan;Case:99 patients with depressive disorders:Japan										
117977		pancreatitis	IMMUNE	IMM		18	18q11.2	C18orf8	19337459	19365742		Brown, D. A.  et al. 2002	12139236				Chromosome 18 open reading frame 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013326.3			CDC GDPinfo	29919	Hs.529006			BioTechniques. 2002 Jul;33(1):118-20, 122, 124 passim	Antibody-based approach to high-volume genotyping for MIC-1 polymorphism.		605312	12362	2	2002	This novel antibody-based assay confidently determines the genotype of MIC-1. It offers the advantages of an ELISA-ease of automation, high-volume throughput of samples, and ease of use in a routine, clinical laboratory.	Cohort 261 adult blood donors 										
117972		cerebellar medulloblastomas and cutaneous basal cell carcinomas.	CANCER	CAN	Medulloblastoma|Carcinoma, Basal Cell|Cerebellar Neoplasms|Skin Neoplasms	10	10q24.32	BTRC	103103814	103307060		Wolter M 2003	12898158				Beta-transducin repeat containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033637.2			KGB	8945	Hs.500812			Acta neuropathologica. 2003 Oct;106(4):287-90	Absence of detectable alterations in the putative tumor suppressor gene BTRC in cerebellar medulloblastomas and cutaneous basal cell carcinomas.		603482	6610	1	2003												
117973	Y	cholesterol, HDL; hypertension	METABOLIC	MET	Hypertension	16	16p12.3	ACSM1	20542059	20610079		Haketa, A.  et al. 2004	15361761				acyl-CoA synthetase medium-chain family member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052956.1			CDC GDPinfo	116285	Hs.306812			Journal of hypertension. 2004 Oct;22(10):1903-7	Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.			15008	2	2004	 SNPs in the MACS1 and SAH genes contribute to plasma levels of high-density lipoprotein cholesterol.	Control:259 normotensive subjects;Case:287 essential hypertension patients										
117974		schizophrenia	PSYCH	PSY		22	22q13.31	BZRP	41877479	41889191		Kurumaji A et al. 2000	11215759				Benzodiazapine receptor (peripheral)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537892	Japanese		KGB	706				J Neural Transm. 2000 ;107(4):491-500	An association study between two missense variations of the benzodiazepine receptor (peripheral) gene and schizophrenia in a Japanese sample.		109610	1020	1	2000												
117969	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	BTNL2	32470490	32482878		Valentonyte, R.  et al. 2005	15735647				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1			CDC GDPinfo	56244	Hs.534471			Nature genetics. 2005 Apr;37(4):357-64	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.		606000	15512	2	2005	The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.	Case:947 independent cases of familial and sporadic:sarcoidosis										
117970		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	BTNL2	32470490	32482878		Rybicki, B. A.  et al. 2005	16080124				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1	African American, whites	United States	CDC GDPinfo	56244	Hs.534471			American journal of human genetics. 2005 Sep;77(3):491-9	The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites.		606000	15513	2	2005												
117971	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	BTNL2	32470490	32482878			16321988				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1			CDC GDPinfo	56244	Hs.534471			Human molecular genetics. 2006 Jan;15(1):155-61	Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15		606000	15514	2	2005												
117966	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q13-q21	BTC	75890471	75938853		Nakagawa, T.  et al. 2005	15936459				Betacellulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001729.1			CDC GDPinfo	685	Hs.591704			Diabetes research and clinical practice. 2005 Jun;68(3):188-92	Molecular scanning of the betacellulin gene for mutations in type 2 diabetic patients.		600345	15509	2	2005	These data suggest that genetic variations in the protein-coding region of the human BTC gene are unlikely to be a major contributor to development of type 2 diabetes.	Control:170 non-diabetic controls;Case:228 type 2 diabetic patients										
117967		biotinidase deficiency	PSYCH	PSY	Metabolism, Inborn Errors	3	3p25	BTD	15618258	15662329		Dobrowolski, S. F.  et al. 2003	12618081				Biotinidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000060.2			CDC GDPinfo	686	Hs.517830			Molecular genetics and metabolism. 2003 Feb;78(2):100-7	Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.		253260	15510	2	2003	In newborn screening for biotinidase deficiency, we have shown that the analysis of common mutations is useful in distinguishing between partial and complete enzyme deficiency as well as improving specificity. Combining biotinidase enzyme analysis with genotypic data also increases the sensitivity of screening for biotinidase deficiency and provides information useful to clinicians earlier than would otherwise be possible.	Cohort dried blood specimens from newborns identified through prospective newborn screening as presumptive positive for biotinidase deficiency 										
117968		agammaglobulinemia	OTHER	OTH	Agammaglobulinemia|Genetic Diseases, X-Linked	X	Xq21.33-q22	BTK	100491097	100527838		Lopez-Granados, E.  et al. 2005	16159644				Bruton agammaglobulinemia tyrosine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000061.1			CDC GDPinfo	695	Hs.159494			The Journal of allergy and clinical immunology. 2005 Sep;116(3):690-7	A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.		300300	15511	2	2005	 XLA is a variable disease. Globally, a genotype-phenotype correlation is observed, but individual discrepancies between the severity of the mutation and the clinical and analytic phenotype suggest that other loci or ambient factors significantly influence the disease presentation and evolution.											
117963		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q22-q24	BRIP1	57114766	57295537		Sigurdson, A. J.  et al. 2004	15113441				BRCA1 interacting protein C-terminal helicase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032043.1			CDC GDPinfo	83990	Hs.532799			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		605882	24098	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
117964		Silver syndrome	DEVELOPMENTAL	DEV	Hereditary Motor and Sensory Neuropathies|Paraparesis|Syndrome	11	11q12-q13.5	BSCL2	62214322	62233562		Windpassinger C 2004	14981520				Bernardinelli-Seip congenital lipodystrophy 2 (seipin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032667.4			KGB	26580	Hs.533709			Nature genetics. 2004 Mar;36(3):271-6	Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.		606158	6740	1	2004												
117965	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q13-q21	BTC	75890471	75938853		Silver, K.  et al. 2005	15793259				Betacellulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001729.1	African American		CDC GDPinfo	685	Hs.591704			Diabetes. 2005 Apr;54(4):1179-84	The exon 1 Cys7Gly polymorphism within the betacellulin gene is associated with type 2 diabetes in African Americans.		600345	8952	2	2005	Further studies will be needed to understand the different roles that betacellulin polymorphisms play in susceptibility to type 2 diabetes in Caucasians and African Americans.	Control Caucasian non-diabetic control subjects;Control African American non-diabetic control subjects;Case Caucasian diabetic subjects;Case African American diabetic subjects										
117960		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Goode, E. L.  et al. 2002	12036913				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		600185	25867	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
117961		juvenile myoclonic epilepsy	OTHER	OTH	Myoclonic Epilepsy, Juvenile	6	6p21.3	BRD2	33044414	33057059		Pal DK 2003	12830434				Bromodomain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005104.2			KGB	6046	Hs.75243			American journal of human genetics. 2003 Aug;73(2):261-70	BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.		601540	5289	1	2003												
117962		azoospermia	REPRODUCTION	REP	Oligospermia|Genetic Predisposition to Disease	6	6p21.3	BRD2	33044414	33057059		Matsuzaka, Y.  et al. 2002	12366783				Bromodomain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005104.2		Japan	CDC GDPinfo	6046	Hs.75243			Tissue antigens. 2002 Jul;60(1):53-63	Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604		601540	15508	2	2002	Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia.	Case patients with non-obstructive azoospermia;Control:controls										
117958		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Radiation-Induced|Neoplasms, Second Primary|Cocarcinogenesis|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Bernstein, J. L.  et al. 2004	15084244				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Breast cancer research. 2004 ;6(3):R199-214	Study design: Evaluating gene-environmentinteractions in the etiology of breast cancer - the WECARE study		600185	24096	2	2004	 Our study design improves the potential for detecting gene-environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case-control sets and enhanced our ability to detect radiation-genotype interactions.	Control:1400 individually matched controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy;Case:700 women with asynchronous bilateral breast cancer										
117959		cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Ovarian Neoplasms|Fanconi Anemia|Bloom Syndrome|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Koren-Michowitz, M.  et al. 2005	15726604				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Jewish	Israel	CDC GDPinfo	675	Hs.34012			American journal of hematology. 2005 Mar;78(3):203-6	Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in riskmodification for cancer development.		600185	24097	2	2005	Coinheritance of FA and/or BS mutations seems to be more prevalent among BRCA mutation carriers, but a larger study encompassing more women may help in clarifying this issue.	Cohort 100 Ashkenazi women with known BRCA1 and BRCA2 mutations 										
117956		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Menzel, H. J.  et al. 2004	15138483				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		600185	24094	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria										
117957		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Dagan, E.  et al. 2002	12404104				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Jewish	Israel	CDC GDPinfo	675	Hs.34012			European journal of human genetics. 2002 Nov;10(11):724-8	Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers:association with breast/ovarian cancer phenotype.		600185	24095	2	2002	There is no conclusive evidence of association between AR CAG repeat size and breast or ovarian cancer risk in Jewish BRCA1/2 mutation carriers. A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded.	Cohort 227 BRCA1/2 mutation carriers 										
117953		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Wang, W. W.  et al. 2001	11535547				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		United States|Israel|Australia	CDC GDPinfo	675	Hs.34012			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):955-60	A Single Nucleotide Polymorphism in the 5' Untranslated Region of RAD51 and Risk of Cancer among BRCA1/2 Mutation Carriers		600185	20625	2	2001	We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriers. The biochemical basis of this risk modifier is currently unknown.	Control:119 women without breast cancer;Case:67 breast cancer cases										
117954	Y	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Kadouri, L.  et al. 2004	15138485				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			British journal of cancer. 2004 May;90(10):2002-5	A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers.		600185	20626	2	2004	These results indicate significantly elevated risk for BC in carriers of BRCA2 mutations who also carry a RAD51-135c allele. In BRCA1 carriers and noncarriers, no effect for this SNP was found.	Control:152 women unaffected with breast cancer;Case:309/166 BRCA1/2 mutation carriers (n=309) and noncarrier breast cancer patients (n=166)										
117955		ovarian cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Tong, D.  et al. 2003	12883740				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		Austria	CDC GDPinfo	675	Hs.34012			Oncology reports. 2003 Sep-Oct;10(5):1551-3	Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.		600185	20627	2	2003	There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic ovarian cancer patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the Rad52 do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer.	Control:128 healthy volunteers;Case:142 Austrian ovarian carcinoma patients										
117950		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Hughes, D. J.  et al. 2005	15900600				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			International journal of cancer. Journal international du cancer. 2005 Nov;117(2):230-3	Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.		600185	20622	2	2005	These results strongly suggest that contrary to previous studies, there is no significant effect of AIB1 genetic variation on BC risk in BRCA1 mutation carriers and provide an indication that there is also no strong risk modification in BRCA2 carriers.	Cohort 851/324 BRCA1 (n=851) and BRCA2 (n=32) female germline mutation carriers 										
117951		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Runnebaum, I. B.  et al. 2001	11668223				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Pharmacogenetics. 2001 Oct;11(7):635-8	Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives		600185	20623	2	2001	Among the 214 carriers with no past exposure to oral contraceptives, the presence of one or more PROGINS alleles was associated with an OR of 2.4 for ovarian cancer, compared to women without ovarian cancer and with no PROGINS allele (P = 0.004; 95% CI 1.4-4.3). The association was present after adjustment for ethnic group and for year of birth.	Case:195 BRCA1 and BRCA2 carriers with a prior diagnosis of ovarian cancer;Control:249 carriers with neither cancer;Case:392 BRCA1 and BRCA2 carriers with a diagnosis of breast:cancer										
117952		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Levy-Lahad, E.  et al. 2001	11248061				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Proceedings of the National Academy of Sciences of the United States of America. 2001 Mar;98(6):3232-6	A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.		600185	20624	2	2001	These results show RAD51-135C is a clinically significant modifier of BRCA2 penetrance, specifically in raising breast cancer risk at younger ages.	Cohort 257 female Ashkenazi Jewish carriers of one of the common BRCA1 (185delAG, 5382insC) or BRCA2 (6174delT) mutations 										
117947		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Kotsopoulos, J.  et al. 2005	16049805				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Cancer causes & control. 2005 Aug;16(6):667-74	Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.		600185	20619	2	2005			menarche									
117948		breast cancer	CANCER	CAN		13	13q12.3	BRCA2	31787616	31871809			16324400				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Zhonghua yi xue za zhi. 2005 Nov;85(43):3030-4	[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai.]		600185	20620	2	2005	 Four novel mutations in BRCA1 and one novel mutation in BRCA2 may be mutations characterized of early-onset breast cancer in Chinese population. Germline mutations in BRCA2 may contribute less than mutations in BRCA1 to early-onset breast cancer in Shanghai. These data contribute to information on spectrum of BRCA gene in Chinese population and also offer a recommended screening mode for clinical genetic testing programme in China.											
117949		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Rajkumar, T.  et al. 2003	14507240				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Indian	India	CDC GDPinfo	675	Hs.34012			Asian Pacific journal of cancer prevention. 2003 Jul-Sep;4(3):203-8	BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.		600185	20621	2	2003	This is the first study from South India, on BRCA1, BRCA2 & CHEK2 (1100 del C) mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer, using the sensitive DHPLC approach.	Control healthy blood donors;Case:22 breast cancer patients with a family history of breat and/or ovarian cancer and early onset breast:cancer South India										
117944		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Murday, V.  et al. 2004	15131403				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		Great Britain	CDC GDPinfo	675	Hs.34012			Familial cancer. 2004 ;3(1):29-34	An audit of screening for familial breast cancer before 50 years in the South Thames Region - have we got it right?		600185	20616	2	2004	This audit suggests that screening below the age 50 years may be unnecessary in families with a low chance of having a BRCA1 or -2 mutation, but it is important to screen high-risk women at least annually and possibly under 35 years.	Cohort 192 women under 50 years of age attending family cancer clinics run by the South Thames genetic services 										
117945		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Hallowell, N.  et al. 2004	15144764				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Social science & medicine (1982). 2004 Aug;59(3):553-65	Accommodating risk: responses to BRCA1/2 genetictesting of women who have had cancer.		600185	20617	2	2004	The data suggest that affected women understand their genetic risks of cancer within the context of their previous disease experiences. It is observed that women's responses to their genetic risk are influenced by the degree to which they have accommodated their risk status in their biography following their diagnosis and treatment of cancer.	Cohort 30 women (10 mutation carriers, 8 awaiting a result and 12 who received an inconclusive test result) 										
117946	Y	breast cancer, male	CANCER	CAN	Breast Neoplasms, Male|Occupational Diseases	13	13q12.3	BRCA2	31787616	31871809		Palli, D.  et al. 2004	15519522				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Eur J Cancer. 2004 Nov;40(16):2474-9	A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?		600185	20618	2	2004	The possible modifying effect on MBC risk in subjects carrying BRCA1/2 germ-line mutations of an occupation characterised by exposure to chemicals such as polycyclic aromatic hydrocarbons (PAH) that are capable of inducing DNA damage, may provide clues to the role of environmental exposures in modifying BC risk in mutation carriers in both genders.	Cohort 23 male breast cancer cases 	occupation									
117941		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Jara, L.  et al. 2002	12491828				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		Chile	CDC GDPinfo	675	Hs.34012			Rev Med Chil. 2002 Oct;130(10):1113-23	[Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer]		600185	20613	2	2002	 The frequency of the 185delAG mutation in BRCA1 was 0.26% (1/382) in Chilean healthy women with a family history of breast cancer.	Cohort 382 Chilean healthy women with at least two relatives affected with breast cancer 										
117942	N	breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Robson, M. E.  et al. 2004	14680495				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Breast cancer research. 2004 ;6(1):R8-R17	A combined analysis of outcome following breast cancer: differences in survival based onBRCA1/BRCA2 mutation status and administration of adjuvant treatment.		600185	20614	2	2004	 BRCA1 mutations, but not BRCA2 mutations, are associated with reduced survival in Ashkenazi women undergoing breast-conserving treatment for invasive breast cancer, but the poor prognosis associated with germline BRCA1 mutations is mitigated by adjuvant chemotherapy. The risk for metachronous ipsilateral disease does not appear to be increased for either BRCA1 or BRCA2 mutation carriers, at least up to 10 years of follow up.	Cohort 584 Ashkenazi Jewish women from two retrospective cohorts undergoing breast-conserving treatment for invasive cancer 1980-1995 										
117943		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Zhou, Y. Z.  et al. 2004	15059511				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Chinese	China	CDC GDPinfo	675	Hs.34012			Zhonghua yi xue za zhi. 2004 Feb;84(4):294-8	[Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people]		600185	20615	2	2004	 Two pathogenic SNPs have been found in BRCA1 and may be related to early-onset breast cancer. One of them may be a novel mutation characterized of familial breast cancer in China.	Control:100 healthy controls;Case:15/76 inherited breast cancer patients (n=15) from 14 breast cancer families and sporadic breast cancer:patients (n=76):China										
117939		breast cancer	CANCER	CAN	Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Cella, D.  et al. 2002	12433008				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		Ontario	CDC GDPinfo	675	Hs.34012			Health psychology. 2002 Nov;21(6):564-72	A brief assessment of concerns associated with genetic testing for cancer: the MultidimensionalImpact of Cancer Risk Assessment (MICRA) questionnaire		600185	20611	2	2002	Factor analysis supported the formation of 3	Cohort 158 women responding to questionnaire 1 month after receiving genetic test results 										
117940		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Berrino, F.  et al. 2002	12484126				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		Europe	CDC GDPinfo	675	Hs.34012			IARC scientific publications. 2002 ;156:63-5	A European case-only study on familial breast cancer		600185	20612	2	2002	The small size of the sudy does not permit any firm conclusions so far, but suggests that high parity and frequent x-ray exposure in childhood are associated with and increased risk of breast cancer in mutation carriers. Oral contraceptives do not seem to increase the risk and tobacco smoking does not seem to protect.	Case:103/356 genetic cases (n=103) and sporadic cases (n=356)	oral contraceptive parity radiation smoking (tobacco)									
117935		breast cancer, familial	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Antoniou, A. C.  et al. 2002	11857015				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			British journal of cancer. 2002 Jan;86(1):76-83	A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.		600185	20607	2	2002	The findings suggest that several common, low penetrance genes with multiplicative effects on risk may account for the residual non-BRCA1/2 familial aggregation of breast cancer. The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families.	Cohort population based series of breast cancer cases 										
117936		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Miyoshi, Y.  et al. 2002	11977534				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Japanese		CDC GDPinfo	675	Hs.34012			Gan to kagaku ryoho Cancer & chemotherapy. 2002 Apr;29(4):512-22	[Genetic test and prophylactic treatment in breast cancer families]		600185	20608	2	2002	These results indicate that genetic testing and prophylactic surgery would be acceptable among a considerable number of Japanese women, and seem to support the establishment an infrastructure for genetic testing in Japan.	Cohort 113 Japanese breast cancer families Japan 										
117937		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Tereshchenko, I. V.  et al. 2002	12101561				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Voprosy onkologii. 2002 ;48(1):24-8	[Investigation of mutations of BRCA1 and BRCA2 genes in 52 breast cancer patients]		600185	20609	2	2002	The frequency of carriers of mutations among familial cancer cases was 16%, among cases of disease till 40 years--9%. 538insC BRCA1 was the most common genetic mutation among hereditary cases of breast cancer.	Case:52										
117932		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast	13	13q12.3	BRCA2	31787616	31871809		Pericay, C.  et al. 2001	11481082				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Med Clin (Barc). 2001 Jul;117(5):161-6	[Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations]		600185	20604	2	2001	 There were no differences in age at diagnosis and stage between BRCA1 and BRCA2 breast cancer. The mammographic pattern in BRCA2 was more heterogeneous. BRCA1 mutations were associated with more aggressive histopathologic findings and a higher risk of a second BC and OC.	Cohort 30 patients with breast cancer 										
117933		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Multiple Primary|Neoplasm Recurrence, Local|Chromosome Deletion	13	13q12.3	BRCA2	31787616	31871809		Bremer, M.  et al. 2001	11505617				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Strahlentherapie und Onkologie. 2001 Jul;177(7):325-9	[Bilateral breast carcinoma and local recurrence:prevalence of BRCA-1 and BRCA-2 gene mutations in an unselected patient sample]		600185	20605	2	2001	 We failed to confirm an increased prevalence of BRCA 1/BRCA 2 mutations in our hospital-based series of patients with bilateral breast cancer. However, local relapse, especially when occurring after radiotherapy, may be predictive for an underlying pathogenic BRCA 1 and BRCA 2 gene mutation in patients with bilateral breast cancer.	Cohort 75 patients with bilateral breast cancer, who received posoperative radiotherapy 1995-2000 										
117929		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Malats, N.   2001	12120227				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		600185	20601	2	2001	Review article		alcohol smoking (tobacco)									
117930		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Metcalfe, K. A.  et al. 2000	11073541				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Journal of medical genetics. 2000 Nov;37(11):866-74	An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling.		600185	20602	2	2000	 These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.	Cohort 79 women surveyed or 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University Montreal, Canada 										
117931	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Machackova, E.  et al. 2000	11192759				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Czech	Czech Republic	CDC GDPinfo	675	Hs.34012			Cas Lek Cesk. 2000 Oct;139(20):635-7	A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families		600185	20603	2	2000	 Molecular genetic testing of BRCA1 and BRCA2 genes in high-risk women with breast/ovarian cancer is effective in determining genetic predisposition to cancer. Spectrum of mutations found in both genes is variable and further investigation is needed for estimation of more frequent or founder mutations. The genetic counselling and preventive clinical follow-up of gene carriers has to be part of the genetic program.	Cohort 21 tested families in the South Moravian region of the Czech Republic 										
117926	Y	stomach cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Jakubowska, A.  et al. 2003	14647210				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Polish	Poland	CDC GDPinfo	675	Hs.34012			European journal of human genetics. 2003 Dec;11(12):955-8	A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.		600185	15506	2	2003	The results of this study suggest that, in the Polish population, the constellation of ovarian and stomach cancer predicts the presence of a germ-line BRCA2 mutation and confirms that stomach cancer is part of the spectrum of BRCA2 mutations. It is expected that the penetrance of BRCA2 mutations for stomach cancer will vary from country to country, reflecting local environmental and lifestyle factors.	Case:34 women with ovarian cancer and a family history of stomach cancer:Poland;Control:75 women with ovarian cancer and a family history of ovarian cancer:Poland										
117927		breast cancer	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Gorski, B.  et al. 2005	16280055				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Breast cancer research. 2005 ;7(6):R1023-7	A common missense variant in BRCA2 predisposes to early onset breast cancer.		600185	15507	2	2005	 The BRCA2 C5972T allele is a common variant in Poland that increases the risk of DCIS with micro-invasion. The homozygous state is rare but increases the risk of breast cancer five-fold.											
117928		uveal melanoma	CANCER	CAN	Melanoma|Uveal Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Hearle, N.  et al. 2003	12556369				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Investigative ophthalmology & visual science. 2003 Feb;44(2):458-62	Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma.		600185	15717	2	2003	 These findings suggest that less than 2% of cases of uveal melanoma can be ascribed to germline mutations in BRCA2, P16(INK4A), P14(ARF), or P15. It is likely that mutations in other genes contribute to an inherited predisposition to uveal melanoma.	Cohort 385 patients with uveal melanoma 										
117923		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Millikan, R. C.  et al. 2005	16214912				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2326-34	Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.		600185	8951	2	2005			radiation									
117924		breast cancer	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Sliwinski, T.  et al. 2005	16261408				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Breast cancer research and treatment. 2005 Nov;94(2):105-9	Polymorphisms of the BRCA2 and RAD51 Genes in Breast Cancer.		600185	13444	2	2005				BRCA2	Met1915Thr Thr/Thr	BRCA2	Met784Val Met/Met	RAD51		Y		Breast Cancer
117925	Y	prenatal viability	CANCER	CAN	Breast Neoplasms|Neoplastic Syndromes, Hereditary|Fetal Death|Genetic Predisposition to Disease|Birth Weight	13	13q12.3	BRCA2	31787616	31871809		Healey, C. S.  et al. 2000	11062481				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Nature genetics. 2000 Nov;26(3):362-4	A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.		600185	15505	2	2000	The N372H variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner	Case not stated in abstract										
117920		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Hu N 2004	14647438				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			KGB	675	Hs.34012			Oncogene. 2004 Jan;23(3):852-8	Evaluation of BRCA2 in the genetic susceptibility of familial esophageal cancer.		600185	1018	1	2004	We conclude that  germline mutations in BRCA2 in ESCC patients from this high-risk area of China are more frequent in FH+ than FH- cases, suggesting that BRCA2 may play a role in genetic susceptibility to familial ESCC.											
117921		spontaneous chromosomal instability	OTHER	OTH	Neoplasms|Medulloblastoma|Brain Stem Neoplasms|Kidney Neoplasms|Wilms Tumor|Anemia, Aplastic|Chromosomal Instability	13	13q12.3	BRCA2	31787616	31871809		Hirsch B 2004	14670928				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			KGB	675	Hs.34012			Blood. 2004 Apr;103(7):2554-9	Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.		600185	1019	1	2004												
117922	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	13	13q12.3	BRCA2	31787616	31871809		Medina, P. P.  et al. 2003	12917199				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of Homologous Recombination Gene Polymorphisms in Lung Cancer Patients Reveals an Association of the NBS1-185Gln Variant and p53 Gene Mutations		600185	8950	2	2003	Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.	Cohort 109 lung cancer patients 	smoking (tobacco)	NBS1	185Gln	p53				Y	cigarette smoking	lung cancer
117917	Y	breast cancer	CANCER	CAN	Medulloblastoma|Breast Neoplasms|Brain Neoplasms|Fanconi Anemia|Syndrome|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Offit K 2003	14559878				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			KGB	675	Hs.34012			Journal of the National Cancer Institute. 2003 Oct;95(20):1548-51	Shared genetic susceptibility to breast cancer, brain tumors~~~ and Fanconi anemia.		600185	1015	1	2003												
117918	Y	prophylactic breast surgery	OTHER	OTH	Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		van Oostrom I 2003	14551306				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			KGB	675	Hs.34012			Journal of clinical oncology. 2003 Oct;21(20):3867-74	Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study.		600185	1016	1	2003	 Our findings support the emerging consensus that genetic predisposition testing for BRCA1/2 does not pose major mental health risks, but our findings also show that the impact of prophylactic surgery on aspects such as body image and sexuality should not be underestimated, and that some women are at risk for high distress, and as a result, need more attentive care.											
117919		ovarian cancer	CANCER	CAN	Carcinoma|Peritoneal Neoplasms|Ovarian Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Rutter JL 2003	12865453				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Israeli	Israel	KGB	675	Hs.34012			Journal of the National Cancer Institute. 2003 Jul;95(14):1072-8	Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study.		600185	1017	1	2003	 Both BRCA1/2 mutation carriers and non-carriers have reduced risk of ovarian or peritoneal cancer after gynecologic surgery. The magnitude of the reduction depends upon the type and extent of surgery.											
117914		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Goode, E. L.  et al. 2002	12036913				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		113705	24093	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
117915	Y	breast cancer risk and prenatal viability	CANCER	CAN	Breast Neoplasms|Neoplastic Syndromes, Hereditary|Fetal Death|Genetic Predisposition to Disease|Birth Weight	13	13q12.3	BRCA2	31787616	31871809		Healey CS et al. 2000	11062481				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			KGB	675	Hs.34012			Nature genetics. 2000 Nov;26(3):362-4	A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.		600185	1013	1	2000	The N372H variant of BRCA2 appears also to affect fetal survival in a sex-dependent manner	Case not stated in abstract										
117916		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Schwartz MD 2003	14581427				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2		District of Columbia	KGB	675	Hs.34012			Journal of clinical oncology. 2003 Nov;21(21):4034-41	Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing.		600185	1014	1	2003	 These results demonstrate the significant behavioral impact of receiving a positive BRCA1/2 test result. The increased rate of oophorectomy among mutation carriers suggests that testing for BRCA1/2 mutations may ultimately impact ovarian cancer mortality.											
117912		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Radiation-Induced|Neoplasms, Second Primary|Cocarcinogenesis|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Bernstein, J. L.  et al. 2004	15084244				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Breast cancer research. 2004 ;6(3):R199-214	Study design: Evaluating gene-environmentinteractions in the etiology of breast cancer - the WECARE study		113705	20599	2	2004	 Our study design improves the potential for detecting gene-environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case-control sets and enhanced our ability to detect radiation-genotype interactions.	Control:1400 individually matched controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy;Case:700 women with asynchronous bilateral breast cancer										
117913		cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Ovarian Neoplasms|Fanconi Anemia|Bloom Syndrome|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Koren-Michowitz, M.  et al. 2005	15726604				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Jewish	Israel	CDC GDPinfo	672	Hs.194143			American journal of hematology. 2005 Mar;78(3):203-6	Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in riskmodification for cancer development.		113705	20600	2	2005	Coinheritance of FA and/or BS mutations seems to be more prevalent among BRCA mutation carriers, but a larger study encompassing more women may help in clarifying this issue.	Cohort 100 Ashkenazi women with known BRCA1 and BRCA2 mutations 										
117910		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Menzel, H. J.  et al. 2004	15138483				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		113705	20597	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria										
117911		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Dagan, E.  et al. 2002	12404104				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Jewish	Israel	CDC GDPinfo	672	Hs.194143			European journal of human genetics. 2002 Nov;10(11):724-8	Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers:association with breast/ovarian cancer phenotype.		113705	20598	2	2002	There is no conclusive evidence of association between AR CAG repeat size and breast or ovarian cancer risk in Jewish BRCA1/2 mutation carriers. A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded.	Cohort 227 BRCA1/2 mutation carriers 										
117907		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Freedman, M. L.  et al. 2005	16103107				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Cancer research. 2005 Aug;65(16):7516-22	A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.		113705	15503	2	2005												
117909		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Sigurdson, A. J.  et al. 2004	15113441				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		113705	20596	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
117905		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Hughes, D. J.  et al. 2005	15900600				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			International journal of cancer. Journal international du cancer. 2005 Nov;117(2):230-3	Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.		113705	15501	2	2005	These results strongly suggest that contrary to previous studies, there is no significant effect of AIB1 genetic variation on BC risk in BRCA1 mutation carriers and provide an indication that there is also no strong risk modification in BRCA2 carriers.	Cohort 851/324 BRCA1 (n=851) and BRCA2 (n=32) female germline mutation carriers 								N		
117906		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Kotsopoulos, J.  et al. 2005	16049805				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Cancer causes & control. 2005 Aug;16(6):667-74	Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.		113705	15502	2	2005			menarche									
117902	Y	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Bau, D. T.  et al. 2004	15256476				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Cancer research. 2004 Jul;64(14):5013-9	Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1.		113705	15497	2	2004	Because BRCA1 is a well-documented breast cancer susceptibility gene, this association between NHEJ and BRCA1 not only suggests a role of BRCA1 in NHEJ but also provides essential support for the tumorigenic contribution of NHEJ in breast cancer development..	Case:469 breast cancer patients;Control:740 healthy controls		NHEJ		BRCA1				Y		breast cancer
117903	Y	breast cancer, male	CANCER	CAN	Breast Neoplasms, Male|Occupational Diseases	17	17q21	BRCA1	38449839	38530994		Palli, D.  et al. 2004	15519522				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Eur J Cancer. 2004 Nov;40(16):2474-9	A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer?		113705	15498	2	2004	The possible modifying effect on MBC risk in subjects carrying BRCA1/2 germ-line mutations of an occupation characterised by exposure to chemicals such as polycyclic aromatic hydrocarbons (PAH) that are capable of inducing DNA damage, may provide clues to the role of environmental exposures in modifying BC risk in mutation carriers in both genders.	Cohort 23 male breast cancer cases 	occupation									
117900		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Murday, V.  et al. 2004	15131403				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Great Britain	CDC GDPinfo	672	Hs.194143			Familial cancer. 2004 ;3(1):29-34	An audit of screening for familial breast cancer before 50 years in the South Thames Region - have we got it right?		113705	15495	2	2004	This audit suggests that screening below the age 50 years may be unnecessary in families with a low chance of having a BRCA1 or -2 mutation, but it is important to screen high-risk women at least annually and possibly under 35 years.	Cohort 192 women under 50 years of age attending family cancer clinics run by the South Thames genetic services 										
117901		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Hallowell, N.  et al. 2004	15144764				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Social science & medicine (1982). 2004 Aug;59(3):553-65	Accommodating risk: responses to BRCA1/2 genetictesting of women who have had cancer.		113705	15496	2	2004	The data suggest that affected women understand their genetic risks of cancer within the context of their previous disease experiences. It is observed that women's responses to their genetic risk are influenced by the degree to which they have accommodated their risk status in their biography following their diagnosis and treatment of cancer.	Cohort 30 women (10 mutation carriers, 8 awaiting a result and 12 who received an inconclusive test result) 										
117898	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Robson, M. E.  et al. 2004	14680495				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Breast cancer research. 2004 ;6(1):R8-R17	A combined analysis of outcome following breast cancer: differences in survival based onBRCA1/BRCA2 mutation status and administration of adjuvant treatment.		113705	15491	2	2004	 BRCA1 mutations, but not BRCA2 mutations, are associated with reduced survival in Ashkenazi women undergoing breast-conserving treatment for invasive breast cancer, but the poor prognosis associated with germline BRCA1 mutations is mitigated by adjuvant chemotherapy. The risk for metachronous ipsilateral disease does not appear to be increased for either BRCA1 or BRCA2 mutation carriers, at least up to 10 years of follow up.	Cohort 584 Ashkenazi Jewish women from two retrospective cohorts undergoing breast-conserving treatment for invasive cancer 1980-1995 										
117899	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Zhou, Y. Z.  et al. 2004	15059511				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Chinese	China	CDC GDPinfo	672	Hs.194143			Zhonghua yi xue za zhi. 2004 Feb;84(4):294-8	[Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people]		113705	15492	2	2004	 Two pathogenic SNPs have been found in BRCA1 and may be related to early-onset breast cancer. One of them may be a novel mutation characterized of familial breast cancer in China.	Control:100 healthy controls;Case:15/76 inherited breast cancer patients (n=15) from 14 breast cancer families and sporadic breast cancer:patients (n=76):China										
117896		ovarian cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Tong, D.  et al. 2003	12883740				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Austria	CDC GDPinfo	672	Hs.194143			Oncology reports. 2003 Sep-Oct;10(5):1551-3	Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.		113705	15489	2	2003	There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic ovarian cancer patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the Rad52 do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer.	Control:128 healthy volunteers;Case:142 Austrian ovarian carcinoma patients										
117897		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Rajkumar, T.  et al. 2003	14507240				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Indian	India	CDC GDPinfo	672	Hs.194143			Asian Pacific journal of cancer prevention. 2003 Jul-Sep;4(3):203-8	BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India.		113705	15490	2	2003	This is the first study from South India, on BRCA1, BRCA2 & CHEK2 (1100 del C) mutations in patients with a family history of breast and/or ovarian cancer and early onset breast/ovarian cancer, using the sensitive DHPLC approach.	Control healthy blood donors;Case:22 breast cancer patients with a family history of breat and/or ovarian cancer and early onset breast:cancer South India										
117894		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Berrino, F.  et al. 2002	12484126				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Europe	CDC GDPinfo	672	Hs.194143			IARC scientific publications. 2002 ;156:63-5	A European case-only study on familial breast cancer		113705	15487	2	2002	The small size of the sudy does not permit any firm conclusions so far, but suggests that high parity and frequent x-ray exposure in childhood are associated with and increased risk of breast cancer in mutation carriers. Oral contraceptives do not seem to increase the risk and tobacco smoking does not seem to protect.	Case:103/356 genetic cases (n=103) and sporadic cases (n=356)	oral contraceptive parity radiation smoking (tobacco)									
117895		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Jara, L.  et al. 2002	12491828	185delAG			Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Chile	CDC GDPinfo	672	Hs.194143			Rev Med Chil. 2002 Oct;130(10):1113-23	[Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer]		113705	15488	2	2002	 The frequency of the 185delAG mutation in BRCA1 was 0.26% (1/382) in Chilean healthy women with a family history of breast cancer.	Cohort 382 Chilean healthy women with at least two relatives affected with breast cancer 										
132408		retinitis pigmentosa	OTHER	OTH	Retinitis Pigmentosa	1	1q25.2	PDC	184679337	184696862		Nishiguchi KM 2004	14758335				Phosducin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002597.3			KGB	5132	Hs.550			Molecular vision [electronic resource]. 2004 Jan;10:62-4	Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.		171490	4907	1	2004	 Phosducin mutations are not a major cause of dominant or recessive RP, Leber congenital amaurosis, or cone-rod degeneration. The human phenotype associated with phosducin defects remains unknown.	Cohort 853 patients with retinitis pigmentosa or an allied disease diseases										
117893	Y	breast cancer	CANCER	CAN	Neoplasms	17	17q21	BRCA1	38449839	38530994		Cella, D.  et al. 2002	12433008				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Ontario	CDC GDPinfo	672	Hs.194143			Health psychology. 2002 Nov;21(6):564-72	A brief assessment of concerns associated with genetic testing for cancer: the MultidimensionalImpact of Cancer Risk Assessment (MICRA) questionnaire		113705	15486	2	2002	Factor analysis supported the formation of 3	Cohort 158 women responding to questionnaire 1 month after receiving genetic test results 										
131308	Y	von Hippel-Lindau tumour	CANCER	CAN	Carcinoma, Renal Cell|Chromosome Aberrations	8	8p23.1-p21.3	NAT1	18111894	18125100		Gallou C et al. 2001	11505222				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Pharmacogenetics. 2001 Aug;11(6):521-35	Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.		108345	8	1	2001												
117890	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Tereshchenko, I. V.  et al. 2002	12101561				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Voprosy onkologii. 2002 ;48(1):24-8	[Investigation of mutations of BRCA1 and BRCA2 genes in 52 breast cancer patients]		113705	15482	2	2002	The frequency of carriers of mutations among familial cancer cases was 16%, among cases of disease till 40 years--9%. 538insC BRCA1 was the most common genetic mutation among hereditary cases of breast cancer.	Case:52										
117891	N	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Ke, Y.  et al. 2002	12362311				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Chinese		CDC GDPinfo	672	Hs.194143			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):383-5	[Analysis of mutation sites of BRCA1 gene in Chinese patients with breast cancer]		113705	15483	2	2002	 The above results suggest this SNP may not be associated with the breast cancer in Chinese population, and indicates that the gene sequence of what we have studied doesn't account much for occurrence of the breast cancer in the population of China.	Control:controls;Case:86 patients with breast cancer without blood relationship randomly selected										
117888		breast cancer, familial	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Antoniou, A. C.  et al. 2002	11857015				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			British journal of cancer. 2002 Jan;86(1):76-83	A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.		113705	15479	2	2002	The findings suggest that several common, low penetrance genes with multiplicative effects on risk may account for the residual non-BRCA1/2 familial aggregation of breast cancer. The modifying effect may explain the previously reported differences between population based estimates for BRCA1/2 penetrance and estimates based on high-risk families.	Cohort population based series of breast cancer cases 										
117889		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Miyoshi, Y.  et al. 2002	11977534				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Japanese		CDC GDPinfo	672	Hs.194143			Gan to kagaku ryoho Cancer & chemotherapy. 2002 Apr;29(4):512-22	[Genetic test and prophylactic treatment in breast cancer families]		113705	15480	2	2002	These results indicate that genetic testing and prophylactic surgery would be acceptable among a considerable number of Japanese women, and seem to support the establishment an infrastructure for genetic testing in Japan.	Cohort 113 Japanese breast cancer families Japan 										
117886		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Hughes, C.  et al. 2002	11807889				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			American journal of medical genetics. 2002 Jan;107(2):143-50	All in the family: evaluation of the process andcontent of sisters' communication about BRCA1 and BRCA2 genetic test results.		113705	15477	2	2002	The results of this study suggest that probands are likely to quickly communicate their BRCA1/2 test results to relatives and that although needs for social support may motivate family communication, emotionally distant relationships may be a barrier to communication with relatives.	Cohort 81 sisters of 43 women who were the first family member to have genetic testing 										
117887		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Levin, T.  et al. 2001	11826460				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Norway	CDC GDPinfo	672	Hs.194143			Tidsskrift for den Norske laegeforening. 2001 Nov;121(28):3292-4	[Information to families with hereditary breast and ovarian cancer]		113705	15478	2	2001	The legislation constituted no barrier to offering health services to the target group. Information on our services had reached all close relatives who could benefit from them. This may be representative for curable inherited disorders. We examined inherited cancer limited to females; similar studies on inherited cancers in males and on other curable inherited disorders should be performed. Outside the framework of the present study, we are aware of rare examples of distant cousins who have not been properly informed through their families. One legally acceptable way of identifying mutation carrier families is to test all patients with breast or ovarian cancer for causative mutations. Health services should be monitored to make future decisions based on empirical evidence.	Cohort all first-degree relatives of all 75 BRCA1 mutation carriers diagnosed within a given period of time and asked them whether or not they had been informed by their relatives. 										
117884		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Multiple Primary|Neoplasm Recurrence, Local|Chromosome Deletion	17	17q21	BRCA1	38449839	38530994		Bremer, M.  et al. 2001	11505617				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Strahlentherapie und Onkologie. 2001 Jul;177(7):325-9	[Bilateral breast carcinoma and local recurrence:prevalence of BRCA-1 and BRCA-2 gene mutations in an unselected patient sample]		113705	15475	2	2001	 We failed to confirm an increased prevalence of BRCA 1/BRCA 2 mutations in our hospital-based series of patients with bilateral breast cancer. However, local relapse, especially when occurring after radiotherapy, may be predictive for an underlying pathogenic BRCA 1 and BRCA 2 gene mutation in patients with bilateral breast cancer.	Cohort 75 patients with bilateral breast cancer, who received posoperative radiotherapy 1995-2000 										
117885		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Runnebaum, I. B.  et al. 2001	11668223				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Pharmacogenetics. 2001 Oct;11(7):635-8	Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives		113705	15476	2	2001	Among the 214 carriers with no past exposure to oral contraceptives, the presence of one or more PROGINS alleles was associated with an OR of 2.4 for ovarian cancer, compared to women without ovarian cancer and with no PROGINS allele (P = 0.004; 95% CI 1.4-4.3). The association was present after adjustment for ethnic group and for year of birth.	Case:195 BRCA1 and BRCA2 carriers with a prior diagnosis of ovarian cancer;Control:249 carriers with neither cancer;Case:392 BRCA1 and BRCA2 carriers with a diagnosis of breast:cancer		BRCA1		BRCA2		PGR		Y		Risk of Ovarian cancer
117882	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Machackova, E.  et al. 2000	11192759				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Czech	Czech Republic	CDC GDPinfo	672	Hs.194143			Cas Lek Cesk. 2000 Oct;139(20):635-7	A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families		113705	15473	2	2000	 Molecular genetic testing of BRCA1 and BRCA2 genes in high-risk women with breast/ovarian cancer is effective in determining genetic predisposition to cancer. Spectrum of mutations found in both genes is variable and further investigation is needed for estimation of more frequent or founder mutations. The genetic counselling and preventive clinical follow-up of gene carriers has to be part of the genetic program.	Cohort 21 tested families in the South Moravian region of the Czech Republic 										
117883		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast	17	17q21	BRCA1	38449839	38530994		Pericay, C.  et al. 2001	11481082				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Med Clin (Barc). 2001 Jul;117(5):161-6	[Clinical and pathological characteristics and clinical course of patients with breast cancer and BRCA1/BRCA2 mutations]		113705	15474	2	2001	 There were no differences in age at diagnosis and stage between BRCA1 and BRCA2 breast cancer. The mammographic pattern in BRCA2 was more heterogeneous. BRCA1 mutations were associated with more aggressive histopathologic findings and a higher risk of a second BC and OC.	Cohort 30 patients with breast cancer 										
117879		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Gorski, B.  et al. 2005	15980987				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Polish	Poland	CDC GDPinfo	672	Hs.194143			Breast cancer research and treatment. 2005 Jul;92(1):19-24	Breast cancer predisposing alleles in Poland.		113705	8948	2	2005												
117880	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994			16161633				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Genetika. 2005 Aug;41(8):1115-24	[Population genetic analysis of the association between the BRCA1 and P53 gene polymorphisms and the risk of sporadic breast cancer]		113705	8949	2	2005												
117881		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Metcalfe, K. A.  et al. 2000	11073541				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Journal of medical genetics. 2000 Nov;37(11):866-74	An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling.		113705	15472	2	2000	 These findings have a direct impact on the counselling and risk management of female BRCA mutation carriers. Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results.	Cohort 79 women surveyed or 105 women who had received pre- and post-test genetic counselling for a positive BRCA1/2 result at the University of Toronto or at McGill University Montreal, Canada 										
117877	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Jakubowska, A.  et al. 2003	12750242				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Polish	Poland	CDC GDPinfo	672	Hs.194143			Cancer epidemiology, biomarkers & prevention. 2003 May;12(5):457-9	Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland.		113705	8945	2	2003	This finding suggests that RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population. It will be of interest to confirm this in other populations as well.	Case:83 breast cancer cases who were carriers of the BRCA1 5382insC mutation;Control:83 women with the BRCA1 5382insC mutation but were:unaffected		BRCA1		RAD51				Y		breast cancer
117878	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Kadouri, L.  et al. 2004	15138485				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			British journal of cancer. 2004 May;90(10):2002-5	A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers.		113705	8947	2	2004	These results indicate significantly elevated risk for BC in carriers of BRCA2 mutations who also carry a RAD51-135c allele. In BRCA1 carriers and noncarriers, no effect for this SNP was found.	Control:152 women unaffected with breast cancer;Case:309/166 BRCA1/2 mutation carriers (n=309) and noncarrier breast cancer patients (n=166)		BRCA2		RAD51	135c			Y		breast cancer
117875		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Levy-Lahad, E.  et al. 2001	11248061				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Proceedings of the National Academy of Sciences of the United States of America. 2001 Mar;98(6):3232-6	A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.		113705	8943	2	2001	These results show RAD51-135C is a clinically significant modifier of BRCA2 penetrance, specifically in raising breast cancer risk at younger ages.	Cohort 257 female Ashkenazi Jewish carriers of one of the common BRCA1 (185delAG, 5382insC) or BRCA2 (6174delT) mutations 		BRCA2	6174delT	RAD51	135C			Y		breast cancer
117876		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Wang, W. W.  et al. 2001	11535547				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		United States|Israel|Australia	CDC GDPinfo	672	Hs.194143			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):955-60	A Single Nucleotide Polymorphism in the 5' Untranslated Region of RAD51 and Risk of Cancer among BRCA1/2 Mutation Carriers		113705	8944	2	2001	We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriers. The biochemical basis of this risk modifier is currently unknown.	Control:119 women without breast cancer;Case:67 breast cancer cases										
117872		breast cancer	CANCER	CAN	Carcinoma, Ductal|Breast Neoplasms|Neoplasm Invasiveness|Fibrocystic Breast Disease	17	17q21	BRCA1	38449839	38530994		Cavalli LR 2004	15104281				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Cancer genetics and cytogenetics. 2004 Feb;149(1):38-43	Loss of heterozygosity in normal breast epithelial t and benign breast lesions in BRCA1/2 carriers with breast cancer.		113705	1010	1	2004												
117873		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Evans DG 2004	14680492				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Breast cancer research. 2004 ;6(1):E7	Are BRCA1- and BRCA2-related breast cancers associated with increased mortality?		113705	1011	1	2004												
117874	Y	endometrial carcinoma	CANCER	CAN	Carcinoma, Endometrioid|Endometrial Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Levine DA et al. 2001	11263938				breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007295			KGB	672	Hs.194143			Gynecologic oncology. 2001 Mar;80(3):395-8	Risk of endometrial carcinoma associated with BRCA mutation.		113705	1012	1	2001	 For individuals with a germline BRCA mutation, the lifetime risk of endometrial carcinoma is not increased.											
117869		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Kadouri L 2004	14648706				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			International journal of cancer. Journal international du cancer. 2004 Jan;108(3):399-403	Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers.		113705	1007	1	2004												
117870		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	17	17q21	BRCA1	38449839	38530994		Kirchhoff T 2004	14709740				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		District of Columbia|Israel	KGB	672	Hs.194143			Journal of the National Cancer Institute. 2004 Jan;96(1):68-70	Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer.		113705	1008	1	2004												
117871		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Foulkes WD 2004	14871808				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Cancer research. 2004 Feb;64(3):830-5	The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer.		113705	1009	1	2004												
117866		colorectal cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Niell BL 2004	14709734				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Israel	KGB	672	Hs.194143			Journal of the National Cancer Institute. 2004 Jan;96(1):15-21	BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer.		113705	1004	1	2004	 Although weak associations cannot be excluded, Ashkenazi BRCA founder mutations do not confer a strongly elevated risk of colorectal cancer. Similarly, a family history of breast cancer does not appear to be a strong risk factor for colorectal cancer in this population.											
117867		germline mutations	OTHER	OTH	Brenner Tumor|Carcinoma|Peritoneal Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Pautier P 2004	15026477				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Journal of the National Cancer Institute. 2004 Mar;96(6):488-9	Is systemic disease in the coelomic epithelium associated with BRCA1 germline mutations?		113705	1005	1	2004												
117868		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Malander S 2004	14746861				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Sweden	KGB	672	Hs.194143			Eur J Cancer. 2004 Feb;40(3):422-8	One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.		113705	1006	1	2004												
117863	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Robson ME 2004	14680495				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Breast cancer research. 2004 ;6(1):R8-R17	A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment.		113705	1001	1	2004	 BRCA1 mutations, but not BRCA2 mutations, are associated with reduced survival in Ashkenazi women undergoing breast-conserving treatment for invasive breast cancer, but the poor prognosis associated with germline BRCA1 mutations is mitigated by adjuvant chemotherapy. The risk for metachronous ipsilateral disease does not appear to be increased for either BRCA1 or BRCA2 mutation carriers, at least up to 10 years of follow up.	Cohort 584 Ashkenazi Jewish women from two retrospective cohorts undergoing breast-conserving treatment for invasive cancer 1980-1995										
117865		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Rebbeck TR 2004	14981104				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		North America|Europe	KGB	672	Hs.194143			Journal of clinical oncology. 2004 Mar;22(6):1055-62	Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group.		113705	1003	1	2004	 Bilateral prophylactic mastectomy reduces the risk of breast cancer in women with BRCA1/2 mutations by approximately 90%.											
117860	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		de la Hoya M 2003	12928470				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			JAMA. 2003 Aug;290(7):929-31	Association between BRCA1 mutations and ratio of female to male births in offspring of families with breast cancer, ovarian cancer~~~ or both.		113705	998	1	2003	 In these families with breast and/or ovarian cancer, mutations in BRCA1 but not BRCA2 were associated with a sex ratio skewed against male births.											
117861		ovarian cancer	CANCER	CAN	Carcinoma|Peritoneal Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Rutter JL 2003	12865453				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Israeli	Israel	KGB	672	Hs.194143			Journal of the National Cancer Institute. 2003 Jul;95(14):1072-8	Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study.		113705	999	1	2003	 Both BRCA1/2 mutation carriers and non-carriers have reduced risk of ovarian or peritoneal cancer after gynecologic surgery. The magnitude of the reduction depends upon the type and extent of surgery.											
117862		ovarian cancer.	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Heimdal K 2003	14522380				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		Norway	KGB	672	Hs.194143			Eur J Cancer. 2003 Oct;39(15):2205-13	The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer.		113705	1000	1	2003												
117858		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Schwartz MD 2003	14581427				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2		District of Columbia	KGB	672	Hs.194143			Journal of clinical oncology. 2003 Nov;21(21):4034-41	Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing.		113705	996	1	2003	 These results demonstrate the significant behavioral impact of receiving a positive BRCA1/2 test result. The increased rate of oophorectomy among mutation carriers suggests that testing for BRCA1/2 mutations may ultimately impact ovarian cancer mortality.											
117859		prophylactic breast surgery	OTHER	OTH	Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		van Oostrom I 2003	14551306				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Journal of clinical oncology. 2003 Oct;21(20):3867-74	Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study.		113705	997	1	2003	 Our findings support the emerging consensus that genetic predisposition testing for BRCA1/2 does not pose major mental health risks, but our findings also show that the impact of prophylactic surgery on aspects such as body image and sexuality should not be underestimated, and that some women are at risk for high distress, and as a result, need more attentive care.											
117854	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Hadjisavvas A et al. 2002	11836613				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Oncology reports. 2002 Mar-Apr;9(2):383-6	Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family.		113705	992	1	2002												
117855	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Buller RE et al. 2001	11309330				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Clinical cancer research. 2001 Apr;7(4):831-8	The p53 mutational spectrum associated with BRCA1 mutant ovarian cancer.		113705	993	1	2001	 Ovarian cancers containing somatic or germ-line BRCA1 mutations are uniformly accompanied by p53 dysfunction. This finding offers additional support to observations regarding the importance of p53/BRCA1 interactions in ovarian carcinogenesis.											
117856	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Claus EB et al. 1998	9839523				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Journal of the National Cancer Institute. 1998 Dec;90(23):1824-9	Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history.		113705	994	1	1998	 Among women with a moderate family history of breast cancer, i.e., predicted noncarriers of BRCA1 and/or BRCA2 mutations, family history remains a factor in predicting breast cancer risk. In families with breast and ovarian cancers, the aggregation of these two cancers appears to be explained by BRCA1/BRCA2 mutation-carrier probability.											
117852	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Buller RE et al. 1999	10050867				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Journal of the National Cancer Institute. 1999 Feb;91(4):339-46	Association between nonrandom X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer.		113705	990	1	1999	 Among individuals informative for the AR locus, nonrandom X-chromosome inactivation was found in the DNA of 53% of those with invasive cancer versus 28% of those with borderline cancer (P = .005) and 33% of healthy control subjects (P = .016). Nonrandom X-chromosome inactivation can be a heritable trait. Nine of 11 AR-informative carriers of germline BRCA1 mutations demonstrated nonrandom X-chromosome inactivation (.0002 < P < .008, for simultaneous occurrence of both). IMPLICATIONS: Nonrandom X-chromosome inactivation may be a predisposing factor for the development of invasive, but not borderline, ovarian cancer.											
117853	Y	germline BRCA1 mutation	CANCER	CAN	Ovarian Neoplasms	17	17q21	BRCA1	38449839	38530994		Buekers TE et al. 2000	10684722				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Gynecologic oncology. 2000 Mar;76(3):418-22	Xp22.2-3 loss of heterozygosity is associated with germline BRCA1 mutation in ovarian cancer.		113705	991	1	2000	 Our data support the hypothesis that an Xp22.2-3 gene product interacts with or modifies the expression of BRCA1 in some hereditary ovarian cancers.											
117848	N	Nonsurvivors of sepsis (male only)	INFECTION	INF	Gram-Negative Bacterial Infections|Sepsis|Genetic Predisposition to Disease	20	20q11.23-q12	BPI	36365998	36399319	n	Hubacek J 2001	11373419	Lys216 --> Glu		coding sequence	Bactericidal/permeability-increasing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001725.1	204 SS pts		KGB	671	Hs.529019			Critical care medicine. 2001 Mar;29(3):557-61	Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific genetic predisposition to sepsis.		109195	989	1	2001	 Our findings suggest that common polymorphisms in the gene for LBP in combination with male gender are associated with an increased risk for the development of sepsis and, furthermore, may be linked to an unfavorable outcome. These data support the important immunomodulatory role of LBP in Gram-negative sepsis and suggest that genetic testing may be helpful for the identification of patients with an unfavorable response to Gram-negative infection.	Case:204 patients diagnosed with sepsis;Control:250 healthy blood donors										
117849	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20q11.23-q12	BPI	36365998	36399319		Hubacek, J. A.  et al. 2002	12521224				Bactericidal/permeability-increasing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001725.1			CDC GDPinfo	671	Hs.529019			Clinical chemistry and laboratory medicine. 2002 Nov;40(11):1097-100	Polymorphisms in the lipopolysaccharide-binding protein and bactericidal/permeability-increasing protein in patients with myocardial infarction		109195	8939	2	2002	Our findings suggest that LBP and BPI polymorphisms do not influence the risk of MI.	Control:302:controls;Case:313 myocardial infarction patients										
117850	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis|Crohn Disease|Genetic Predisposition to Disease	20	20q11.23-q12	BPI	36365998	36399319		Klein, W.  et al. 2005	15758620				Bactericidal/permeability-increasing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001725.1			CDC GDPinfo	671	Hs.529019			Journal of clinical gastroenterology. 2005 Apr;39(4):282-3	A polymorphism of the bactericidal/permeability increasing protein (BPI) gene is associated with Crohn's disease.		109195	8940	2	2005	 Failure of the innate intestinal immune system could be involved in the pathogenesis of Crohn's disease via reduced/impaired defense against gram-negative bacteria.	Case:26508/207 patients with Crohn's (n=265) and ulcerative:colitis (n=207) disease;Control:608 healthy controls										
117845		juvenile polyposis	OTHER	OTH	Adenomatous Polyposis Coli|Colonic Neoplasms	2	2q33-q34	BMPR2	202949915	203140719		Howe, J. R.  et al. 2004	15235019				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDPinfo	659	Hs.471119			Journal of medical genetics. 2004 Jul;41(7):484-91	The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.		600799	24092	2	2004	In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.	Cohort 77 juvenile polyposis patients 										
117846	N	azoospermia	REPRODUCTION	REP	Oligospermia	2	2q33	BOLL	198299855	198359183		Lepretre, A. C.  et al. 2004	15379971				Bol, boule-like (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_197970.1		France	CDC GDPinfo	66037	Hs.169797			International journal of andrology. 2004 Oct;27(5):301-3	Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of anovel polymorphic variant in the black population.		606165	15457	2	2004	We conclude that  BOULE coding sequence mutations are not an important factor in the aetiology of azoospermia.	Cohort 40 infertile men with non-obstructive azoospermia or severe oligoasthenoteratozoospermia 										
117847	N	azoospermia; oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia	2	2q33	BOLL	198299855	198359183		Westerveld, G. H.  et al. 2005	15705409				Bol, boule-like (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_197970.1			CDC GDPinfo	66037	Hs.169797			Fertility and sterility. 2005 Feb;83(2):513-5	Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis.		606165	15458	2	2005	Mutation screening of the BOULE gene in 156 men with azoospermia or severe oligozoospermia revealed no relevant mutations; thus, mutations in BOULE can be eliminated as a major cause of impaired spermatogenesis.	Cohort 156 men with azoospermia or severe oligozoospermia 										
117842	N	pulmonary hypertension; scleroderma	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Scleroderma, Systemic	2	2q33-q34	BMPR2	202949915	203140719		Morse, J.  et al. 2002	12415595				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDPinfo	659	Hs.471119			The Journal of rheumatology. 2002 Nov;29(11):2379-81	Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic proteinreceptor 2 mutations.		600799	15453	2	2002	 Pulmonary arterial hypertension in scleroderma spectrum of disease was not associated with heterogeneous germline mutations of BMPR2.	Case:24 patients with pulmonary arterial hypertension and scleroderma spectrum of disease;Control:96/100 healthy North American individuals (n=96) and Israeli Ashkenazi Jews (n=100)										
117843		heart anomalies, congenital; pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Heart Defects, Congenital	2	2q33-q34	BMPR2	202949915	203140719		Roberts, K. E.  et al. 2004	15358693				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDPinfo	659	Hs.471119			The European respiratory journal. 2004 Sep;24(3):371-4	BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease		600799	15455	2	2004	The current findings compliment recent reports in mouse models implicating members of the bone morphogenetic protein/transforming growth factor-beta pathway inducing cardiac anomalies analogous to human atrioventricular canals, septal defects and conotruncal congenital heart defects. The small number of patients studied and the ascertainment bias inherent in selecting for pulmonary arterial hypertension require further investigation.	Cohort 40/66 adults (n=40) and children (n=66) with pulmonary arterial hypertension/congenital heart defects 										
117844		pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	2	2q33-q34	BMPR2	202949915	203140719		Sankelo, M.  et al. 2005	15965979				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDPinfo	659	Hs.471119			Human mutation. 2005 Aug;26(2):119-24	BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.		600799	15456	2	2005												
117839	Y	increased ovulation rate	REPRODUCTION	REP		4	4q22-q24	BMPR1B	95898150	96295099		Mulsant P et al. 2001	11320249				bone morphogenetic protein receptor, type IB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001203			KGB	658	Hs.480321			Proc Natl Acad Sci U S A	Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes.		603248	986	1	2001												
117840		juvenile polyposis	OTHER	OTH	Adenomatous Polyposis Coli|Colonic Neoplasms	4	4q22-q24	BMPR1B	95898150	96295099		Howe, J. R.  et al. 2004	15235019				Bone morphogenetic protein receptor, type IB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001203.1			CDC GDPinfo	658	Hs.480321			Journal of medical genetics. 2004 Jul;41(7):484-91	The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.		603248	20595	2	2004	In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.	Cohort 77 juvenile polyposis patients 										
117841	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary	2	2q33-q34	BMPR2	202949915	203140719		Humbert, M.  et al. 2002	12358323				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDPinfo	659	Hs.471119			The European respiratory journal. 2002 Sep;20(3):518-23	BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives		600799	15452	2	2002	In conclusion, the present authors have detected bone morphogenetic protein receptor 2 mutations that appear to be rare in the general population but may combine with exposure to fenfluramine derivatives to greatly increase the risk of developing severe pulmonary arterial hypertension.	Control:130 normal controls;Case:33 unrelated patients with sporadic pulmonary arterial:hypertension	dexfenfluramine fenfluramine									
117836	N	Juvenile polyposis syndrome; polyposis, gastric	OTHER	OTH	Stomach Neoplasms|Polyps	10	10q22.3	BMPR1A	88506375	88674925		Friedl, W.  et al. 2002	12136244				Bone morphogenetic protein receptor, type IA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004329.2			CDC GDPinfo	657	Hs.524477			Human genetics. 2002 Jul;111(1):108-11	Juvenile polyposis: massive gastric polyposis ismore common in MADH4 mutation carriers than in BMPR1A mutation carriers.		601299	15450	2	2002	A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This is the first genotype-phenotype correlation observed in JPS.	Cohort 29 patients with the clinical diagnosis of JPS 										
117837	Y	polyposis, juvenile	OTHER	OTH	Intestinal Polyps|Genetic Predisposition to Disease	10	10q22.3	BMPR1A	88506375	88674925		Sayed, M. G.  et al. 2002	12417513				Bone morphogenetic protein receptor, type IA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004329.2			CDC GDPinfo	657	Hs.524477			Annals of surgical oncology. 2002 Nov;9(9):901-6	Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.		601299	15451	2	2002	 Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.	Cohort 54 juvenile polyposis probands 										
117838		juvenile polyposis	OTHER	OTH	Adenomatous Polyposis Coli|Colonic Neoplasms	10	10q22.3	BMPR1A	88506375	88674925		Howe, J. R.  et al. 2004	15235019				Bone morphogenetic protein receptor, type IA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004329.2			CDC GDPinfo	657	Hs.524477			Journal of medical genetics. 2004 Jul;41(7):484-91	The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.		601299	15454	2	2004	In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.	Cohort 77 juvenile polyposis patients 										
117833		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	14	14q22-q23	BMP4	53486206	53493362		Felder, B.  et al. 2002	12404109				Bone morphogenetic protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001202.2			CDC GDPinfo	652	Hs.68879			European journal of human genetics. 2002 Nov;10(11):753-6	Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs).		112262	15449	2	2002	The frequency of the heterozygous 455TC genotype is lower in cases than in controls (nominal P=0.017), although allele frequencies are similar in both groups. A possible explanation for this finding might be that BMP4 455TC heterozygosity at this site is a protective factor in the normal population, although this hypothesis cannot be proven to date.	Case spina bifida aperta patients;Control:controls										
117834		osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	6	6p12.1	BMP5	55728195	55848334		Southam L 2003	12826715				Bone morphogenetic protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021073.2			KGB	653	Hs.296648			Rheumatology (Oxford, England). 2003 Jul;42(7):911-2	Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene.		112265	985	1	2003												
117835		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	1	1p35-p32	BMP8B	39995440	40027120		Saito, T.  et al. 2004	15063762				Bone morphogenetic protein 8b (osteogenic protein 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY303955		Japan	CDC GDPinfo	656	Hs.409964			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		602284	25866	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
117830		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.2	BLMH	25599348	25643200		Prince, J. A.  et al. 2001	11436125				Bleomycin hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000386.2		Sweden	CDC GDPinfo	642	Hs.371914			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		602403	26797	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
117831		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	20	20p12	BMP2	6696744	6708910		Weese-Mayer, D. E.  et al. 2004	15240857				Bone morphogenetic protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001200.2			CDC GDPinfo	650	Hs.73853			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		112261	20594	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
117832		early marginal bone loss around endosseous implants.	OTHER	OTH	Alveolar Bone Loss|Mandibular Diseases|Maxillary Diseases	14	14q22-q23	BMP4	53486206	53493362		Shimpuku H 2003	12939000				Bone morphogenetic protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001202.2			KGB	652	Hs.68879			The International journal of oral & maxillofacial implants. 2003 Jul-Aug;18(4):500-4	Bone morphogenetic protein-4 gene polymorphism and early marginal bone loss around endosseous implants.		112262	984	1	2003	 While perhaps premature in recommendation, genetic screening before implant surgery may prove to be a very useful aid to consider the risk of implant treatment.											
117826	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.2	BLMH	25599348	25643200	n	Namba Y et al. 1999	10401796				Bleomycin hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000386.2	Japanese	Japan	KGB	642	Hs.371914			Annals of neurology. 1999 Jul;46(1):136-7	Lack of association between bleomycin hydrolase gene polymorphism and Alzheimer's disease in Japanese people.		602403	983	1	1999												
117828	N	bleomycin-induced pneumonitis	OTHER	OTH	Neoplasms, Germ Cell and Embryonal|Pneumonia	17	17q11.2	BLMH	25599348	25643200		Nuver, J.  et al. 2005	15900213				Bleomycin hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000386.2			CDC GDPinfo	642	Hs.371914			Pharmacogenetics and genomics. 2005 Jun;15(6):399-405	Genetic variation in the bleomycin hydrolase gene and bleomycin-induced pulmonary toxicity in germ cell cancer patients.		602403	15448	2	2005	 The BMH genotype was not associated with the development of BIP nor with changes in pulmonary function tests. Since renal function is important for bleomycin pharmacokinetics, variations in renal clearance may have obscured significant effects of the BMH genotype.	Cohort male germ cell cancer patients, treated with bleomycin-containing chemotherapy at the University Hospital Groningen the Netherlands 1977 - 2003 										
117829	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.2	BLMH	25599348	25643200		Hu, C.  et al. 2000	11099722				Bleomycin hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000386.2	Chinese		CDC GDPinfo	642	Hs.371914			Journal of the neurological sciences. 2000 Dec;181(2-Jan):127-31	Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan		602403	24091	2	2000	Among these nine candidate genes of AD, the ApoE-4 allele is the only independent genetic risk factor for AD. The other candidate genes in this study were not associated with the occurrence of AD. In addition, there are no gene-gene interactions.	Control:110 non-affected elder individuals among:Taiwan;Case:82 AD patients:Taiwan										
117822		Bloom syndrome; Fanconi's anemia	OTHER	OTH	Fanconi Anemia|Bloom Syndrome	15	15q26.1	BLM	89061582	89159690		Peleg, L.  et al. 2002	11876000				Bloom syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000057.2		Israel	CDC GDPinfo	641	Hs.169348			The Israel Medical Association journal. 2002 Feb;4(2):95-7	Bloom syndrome and Fanconi's anemia: rate andethnic origin of mutation carriers in Israel.		604610	15445	2	2002	 These findings as well as the absence of the mutations in non-Ashkenazi Jews suggest that: a) the mutations originated in the Israelite population that was exiled from Palestine by the Roman Empire in 70 AD and settled in Europe (Ashkenazi), in contrast to those who remained; and b) the difference in origin distribution of the BS and FACC mutations can be explained by either a secondary migration of a subgroup with a subsequent genetic drift, or a separate geographic region of introduction for each mutation.	Cohort 950 anonymous non-Ashkenazi Jews 										
117824		cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Ovarian Neoplasms|Fanconi Anemia|Bloom Syndrome|Genetic Predisposition to Disease	15	15q26.1	BLM	89061582	89159690		Koren-Michowitz, M.  et al. 2005	15726604				Bloom syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000057.2	Jewish	Israel	CDC GDPinfo	641	Hs.169348			American journal of hematology. 2005 Mar;78(3):203-6	Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in riskmodification for cancer development.		604610	15499	2	2005	Coinheritance of FA and/or BS mutations seems to be more prevalent among BRCA mutation carriers, but a larger study encompassing more women may help in clarifying this issue.	Cohort 100 Ashkenazi women with known BRCA1 and BRCA2 mutations 										
117825		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q26.1	BLM	89061582	89159690		Zauber, N. P.  et al. 2005	15959913				Bloom syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000057.2	Jewish		CDC GDPinfo	641	Hs.169348			Cancer. 2005 Aug;104(4):719-29	Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.		604610	20593	2	2005	 In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use.		smoking (tobacco)									
117818	N	neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	5	5q13.1-q15	BHMT	78443438	78463864		Zhu, H.  et al. 2005	15887275				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDPinfo	635	Hs.80756			American journal of medical genetics Part A. 2005 Jun;135(3):274-7	Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?		602888	15443	2	2005	The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population.											
117820	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q21.1	BICC1	59942909	60258851		Riemenschneider, M.  et al. 2004	15465627				Bicaudal C homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY726586		Germany	CDC GDPinfo	80114	Hs.158745			Neurobiology of aging. 2004 Nov-Dec;25(10):1305-8	Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease.			15444	2	2004	We conclude that  the investigated genetic variations do not contribute to the genetic risk of AD.	Control:162:controls;Case:286 patients with Alzheimer's disease										
117821	Y	Bloom's syndrome	OTHER	OTH	Bloom Syndrome	15	15q26.1	BLM	89061582	89159690		Foucault F et al. 1997	9285778				Bloom syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000057.2			KGB	641	Hs.169348			Human molecular genetics. 1997 Sep;6(9):1427-34	Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.		604610	982	1	1997												
117815		bone density	NORMALVARIATION	NV		1	1q25-q31	BGLAP	154478628	154479736		Willing, M. C.  et al. 2003	12879219				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130			CDC GDPinfo	632	Hs.512679			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		112260	20591	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
117816		neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	5	5q13.1-q15	BHMT	78443438	78463864		Morin, I.  et al. 2003	12749058				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDPinfo	635	Hs.80756			American journal of medical genetics Part A. 2003 Jun;119(2):172-6	Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.		602888	15441	2	2003	Our study suggests that the Q allele of the R239Q mutation may decrease risk of the condition. This warrants further investigation of its relationship with the development of NTD.	Case:54 patients with spina bifida and 57 mothers of:patients;Control:93 control children and 86 mothers of controls										
117817		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperhomocysteinemia|Genetic Predisposition to Disease	5	5q13.1-q15	BHMT	78443438	78463864		Weisberg, I. S.  et al. 2003	12818402				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDPinfo	635	Hs.80756			Atherosclerosis. 2003 Apr;167(2):205-14	Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.		602888	15442	2	2003	Our study suggests that the Q allele of the R239Q mutation may decrease the risk of CAD and that this variant warrants additional investigation of its relationship with the development of CAD as well as other homocysteine-dependent disorders.	Control individuals who had undergone coronary angiography with no or mild disease;Case:504 individuals who had undergone coronary angiography with significant [>50% reduction in luminal diameter stenosis] 1-, 2-, 3-vessel disease										
117812	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	1	1q25-q31	BGLAP	154478628	154479736		Yamada, Y.  et al. 2003	12843190				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130	Japanese	Japan	CDC GDPinfo	632	Hs.512679			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3372-8	Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men.		112260	14712	2	2003	These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.	Cohort Japanese women and men aged 40-79 yr 										
117813	N	bone density	METABOLIC	MET		1	1q25-q31	BGLAP	154478628	154479736		Mo, X. Y.  et al. 2004	15108070				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130	Chinese		CDC GDPinfo	632	Hs.512679			Journal of bone and mineral metabolism. 2004 ;22(3):264-9	Lack of association between the HindIII RFLP of the osteocalcin (BGP) gene and bone mineral density (BMD) in healthy pre- and postmenopausal Chinese women.		112260	15440	2	2004	Our result is not consistent with recent reports that the HindIII marker of the BGP gene is associated with osteoporosis. The different findings may reflect inter-population differences in the association (i.e., linkage disequilibrium) of molecular markers with BMD, and indicate the limit of using the HindIII marker of the BGP gene as a genetic marker to discern women susceptible to low BMD and thus osteoporosis in Chinese.	Cohort 388/169 pre- (n=388) and post-menopausal (n=169) Chinese women 										
117814		bone density	METABOLIC	MET		1	1q25-q31	BGLAP	154478628	154479736		Deng, H. W.  et al. 2002	11918225				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130			CDC GDPinfo	632	Hs.512679			Journal of bone and mineral research. 2002 Apr;17(4):678-86	Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density.		112260	19154	2	2002	This is the first study in the broad field of bone genetics that tests candidate genes as QTLs for BMD by testing simultaneously for association alone, for linkage alone, and for association and linkage (via the TDT).	Cohort 630 subjects from 53 human pedigrees 										
117809	N	Malaria infection	INFECTION	INF	Urinary Calculi	1	1q25-q31	BGLAP	154478628	154479736		Chen, W. C.  et al. 2001	11396736				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130			CDC GDPinfo	632	Hs.512679			Urological research. 2001 Apr;29(2):98-101	Osteocalcin gene Hind III polymorphism is not correlated with calcium oxalate stone disease.		112260	8935	2	2001	We conclude that  Hind III polymorphism of the osteocalcin gene is not a suitable genetic marker of urinary stone disease. Further searches for other polymorphisms on this gene correlated with stone disease are suggested.	Case:102 patients with calcium oxalate stones;Control:105 healthy people										
117810	Y	bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1q25-q31	BGLAP	154478628	154479736		Chen, H. Y.  et al. 2001	11574953				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130	Chinese	Taiwan	CDC GDPinfo	632	Hs.512679			Journal of clinical laboratory analysis. 2001 ;15(5):251-5	Relation of polymorphism in the promotor region for the human osteocalcin gene to bone mineral density and occurrence of osteoporosis in postmenopausal Chinese women in Taiwan.		112260	8936	2	2001	In conclusion, the HindIII osteocalcin gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the femoral neck.	Cohort postemenopausal Chinese women Taiwan 										
117811		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25-q31	BGLAP	154478628	154479736		Wu, H. C.  et al. 2003	12565780				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130			CDC GDPinfo	632	Hs.512679			European urology. 2003 Feb;43(2):197-200	Osteocalcin gene HindIII C/T polymorphism is a biomarker for prostate cancer and responsiveness to hormone therapy.		112260	8937	2	2003	 Based on our results, we conclude that the HindIII polymorphism of the osteocalcin gene is a suitable genetic marker of prostate cancer which can be used in the prediction of the outcome of patients who receive hormone therapy.	Control:132 healthy people;Case:96 patients with prostate cancer	hormone replacement therapy									
117806		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		6	6p21.3	BF	32021751	32027839		Scheil, H. G.  et al. 2004	15648851				B-factor, properdin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648590			CDC GDPinfo	629	Hs.69771			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		138470	20590	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
117807	Y	bone mineral density (BMD) / quantitative ultra sound (QUS)	METABOLIC	MET		1	1q25-q31	BGLAP	154478628	154479736	0.04-0.0003	Andrew T et al. 2002	12195539	Microsatellite (D1S3737) associated with lower BMD in post-menopausal women (UK population)			Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130	Female UK Dizygotic twins		T.Andrew	632	Hs.512679	Normal variation / Osteoporosis		Osteoporosis international. 2002 Sep;13(9):745-54	Linkage and association for bone mineral density and heel ultrasound measurements with a simple tandem repeat polymorphism near the osteocalcin gene in female dizygotic twins.		112260	981	1	2002												
117808		bone density	METABOLIC	MET	Bone Diseases, Metabolic|Body Weight	1	1q25-q31	BGLAP	154478628	154479736		Gustavsson, A.  et al. 2000	11199188				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130			CDC GDPinfo	632	Hs.512679			Osteoporosis international. 2000 ;11(10):847-51	Osteocalcin gene polymorphism is related to bone density in healthy adolescent females		112260	8934	2	2000	We have demonstrated that the osteocalcin HindIII genotype is independently related to bone density in healthy adolescent females. The present study also suggests that presence of the H allele is predictive of osteopenia at an early age.	Cohort 97 healthy Caucasian adolescent females 										
117803	Y	cough	OTHER	OTH	Cough|Hypertension|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Mukae, S.  et al. 2002	12522467				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2		Japan	CDC GDPinfo	624	Hs.525572			Journal of human hypertension. 2002 Dec;16(12):857-63	Association of polymorphisms of the renin-angiotensin system and bradykinin B2 receptor with ACE-inhibitor-related cough		113503	25865	2	2002	In conclusion, Susceptibility to develop cough is associated with a genetic variant of the bradykinin B2 receptor promoter; thus, it may be possible to identify those patients who will develop this adverse reaction to ACE inhibitors in advance.	Control:120 Japanese hypertensive patients without cough;Case:70 Japanese hypertensive patients with cough										
117804		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|	6	6p21.3	BF	32021751	32027839		Luo SJ 86	3644938				B-factor, properdin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648590	Chinese	China	Y Wang	629	Hs.69771			Jinrui idengaku zasshi The Japanese journal of human genetics. 1986 Sep;31(3):259-62	Genetic polymorphism of properdin factor B (BF) in Chinese patients with two types of diabetes mellitus.		138470	978	1	1986												
117805		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	CFB	32021751	32027839		Martin-Villa M 86	3741506				B-factor, properdin		Spanish	Spain	Y Wang	629	Hs.69771			Arthritis and rheumatism. 1986 Jul;29(7):932-3	Bf polymorphisms in systemic lupus erythematosus patients of Spanish descent.		138470	979	1	1986												
117800	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Cui, J.  et al. 2005	15643125				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	African American		CDC GDPinfo	624	Hs.525572			Journal of hypertension. 2005 Jan;23(1):55-62	Sequence variation of bradykinin receptors B1 and B2 and association with hypertension.		113503	20584	2	2005	 These results support the hypothesis that the African-American population is an older population compared with the other samples and the two bradykinin receptors may play a role in blood pressure regulation.	Cohort 218/220/194 hypertensive and normotensive African-Americans (n = 218), American-Caucasians (n = 220) and Greek-Caucasians (n = 194) 										
117801		hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538			15112434				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Tsitologiia. 2004 ;46(1):69-78	[Impact of angiotensin-converting enzyme, angiotensinogen, endothelial NO synthase, and bradykinin receptor B2 gene polymorphisms on myocardium in patients with hypertension and in athletes]		113503	24089	2	2004	At the same time, the ACE and AND gene polymorphisms displayed no association with the cardiac structure and function.	Cohort 114/94 hypertensive patients (n=114) and athletes (n=94) 										
117802		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Aoki, S.  et al. 2001	11324803				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Japanese heart journal. 2001 Jan;42(1):15-28	Genetic background in patients with acute myocardial infarction.		113503	24090	2	2001	These polymorphisms were found to be involved in the development of acute myocardial infarction, particularly in the younger patients, and it was concluded that the incidence of acute myocardial infarction might be reduced by management from the genotypes.	Case:150 patients with acute myocardial infarction:Japan;Control:150 healthy ate- and sex-matched controls:Japan										
117797		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Maltais, I.  et al. 2002	12025967				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Canadian journal of physiology and pharmacology. 2002 Apr;80(4):323-7	Bradykinin B2 receptor gene polymorphism is associated with altered urinary albumin/creatinine values in diabetic patients.		113503	20581	2	2002	Thus, the B2R exon 1 polymorphism may represent a susceptibility marker for nephropathy progression in diabetic patients.	Cohort 49/112 type 1 diabetic patients (n=49) and type 2 diabetic patients (n=112) 										
117798	N	diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Zychma, M. J.  et al. 2003	12481150				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			American journal of nephrology. 2003 Mar-Apr;23(2):112-6	Polymorphic genes for kinin receptors, nephropathy and blood pressure in type 2 diabetic patients.		113503	20582	2	2003	 Examined polymorphisms are not associated with the increased risk of incipient or overt nephropathy in type 2 diabetic patients. B(2)R C(181)T polymorphism may contribute to blood pressure variation in these subjects.	Case:153/132 type 2 diabetic patients with microalbuminuria (n=153) and overt nephropathy (n=132);Control:161 patients with normoalbuminuria despite diabetes duration longer than 10 years										
117799	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Dhamrait, S. S.  et al. 2003	14499231				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			European heart journal. 2003 Sep;24(18):1672-80	Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension.		113503	20583	2	2003	 Common variation in the genes for the kinin B(1)and B(2)receptors influences prospective hypertensive coronary risk. These are the first reported human data to suggest a role for the B(1)R in human coronary vascular disease, and the first prospective study to demonstrate a similar role for the B(2)R.	Cohort 2,706 previously healthy UK men (mean age at recruitment 56 years; median follow-up 10.8 years) 										
117794	Y	athletic performance	NORMALVARIATION	NV		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Williams, A. G.  et al. 2003	14607851				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Journal of applied physiology (Bethesda, Md :  1985). 2004 Mar;96(3):938-42	Bradykinin receptor gene variant and human physical performance.		113503	20578	2	2003	These data suggest that common genetic variation in the B2R is associated with efficiency of skeletal muscle contraction and with distance event of elite track athletes and that at least part of the associations of ACE and fitness phenotypes is through elevation of kinin activity.	Control:115 healthy men and women;Case:81 Olympic standard track athletes										
117795	Y	blood pressure	CARDIOVASCULAR	CARD	Hyperaldosteronism	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Mulatero, P.  et al. 2002	12107246				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3337-43	Blood pressure in patients with primary aldosteronism is influenced by bradykinin B(2) receptor and alpha-adducin gene polymorphisms.		113503	20579	2	2002	These data suggest that genetic variants of alpha-adducin and the bradykinin B(2)-R influence the blood pressure levels in patients with primary aldosteronism.	Cohort 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism) 										
117796		hypertension; myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Aoki, S.  et al. 2001	11446495				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Japanese circulation journal. 2001 Jul;65(7):621-6	The genetic factor in acute myocardial infarction with hypertension.		113503	20580	2	2001	Genetic variations in the AngII and BK-B2 receptors could prove to be significant pathophysiological mechanisms affecting essential hypertension and AMI, and genetic differences appear to be a new risk factor for these conditions.	Case:150 subjects with acute myocardial infarction with/without hypertension;Case:150 subjects with essential hypertension:Cohort:150 healthy, age- and sex-matched controls.										
117791	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Wang, B.  et al. 2001	11409654			promoter	Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Chinese		CDC GDPinfo	624	Hs.525572			Hypertension research. 2001 May;24(3):299-302	Genetic variation in the promoter region of the beta2 bradykinin receptor gene is associated with essential hypertension in a Chinese Han population.		113503	15414	2	2001	These results suggested that -58C allele of the human beta2 bradykinin receptor gene may be an independent risk factor for essential hypertension in the Chinese Han population.	Case:120 hypertensive patients:China;Control:98 normotensive sex- and age-matched individuals:China										
117792	Y	kidney failure	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Jozwiak, L.  et al. 2004	15771553				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Molecular diagnosis. 2004 ;8(3):157-61	Association of the human bradykinin B2 receptor gene with chronic renal failure.		113503	15420	2	2004	 Our results suggest that the B2R polymorphism has a potential role in the earlier development of chronic renal failure in susceptible individuals. We did not confirm the previously published reports that the B2R gene polymorphism has a protective role in the development of ESRD.	Control:510 healthy controls;Case:790 patients with end-stage renal disease										
117793		cough, angiotensin-converting enzyme; inhibitor-related	OTHER	OTH	Cough|Proteinuria|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Lee, Y. J.  et al. 2001	11699055				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Chinese	Taiwan	CDC GDPinfo	624	Hs.525572			Metabolism:  clinical and experimental. 2001 Nov;50(11):1346-50	Angiotensin-converting enzyme gene insertion/deletion, not bradykinin B2 receptor -58T/C gene polymorphism, associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus		113503	20577	2	2001	In conclusion, our results indicate that Chinese diabetic female subjects are susceptible to ACEI-related cough, and this susceptibility may be genetically predetermined.	Cohort 189 Chinese non-insulin-dependent diabetes mellitus (NIDDM) patients with proteinuria or hypertension treated with perindopril were studied. 										
117788	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Fischer, M.  et al. 2004	15301669				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Clin Sci (Lond).. 2004 Nov;107(5):505-11	Lack of association of a 9 bp insertion/deletion polymorphism within the bradykinin 2 receptor gene with myocardial infarction.		113503	8883	2	2004	These findings indicate that the 9 bp insertion-/deletion polymorphism of the BK B 2 receptor gene is neither related to the prevalence of MI nor to left ventricular function after MI.	Control:1,363 matched controls and controls without evidence of coronary heart disease;Case:484 patients with documented myocardial infarction										
117789	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Milan, A.  et al. 2005	15643126	C-58T			Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Journal of hypertension. 2005 Jan;23(1):63-9	Bradykinin B2 receptor gene (-58T/C) polymorphism influences baroreflex sensitivity in never-treated hypertensive patients.		113503	8884	2	2005	 B2R genotype can explain part of the BRS variation that is unaccounted for by simple anthropometric variables and common risk factors.	Cohort 129 mild-moderate never-treated hypertensive patients 										
117790	N	hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Fu, Y.  et al. 2004	15894833				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Japanese		CDC GDPinfo	624	Hs.525572			Hypertension research. 2004 Dec;27(12):933-8	Relationship of bradykinin B2 receptor gene polymorphism with essential hypertension and left ventricular hypertrophy.		113503	8885	2	2004	These results suggest that the polymorphism (-58 T/C) in the promoter region of BDKRB might be a risk factor and might have a synergetic effect with the ACE for LVH in hypertensives, but it is not associated with hypertension in the Japanese population.	Case:275 Japanese hypertensive patients;Control:441 normotensive subjects										
117785	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Hallberg, P.  et al. 2003	12640257				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2		Sweden	CDC GDPinfo	624	Hs.525572			Journal of hypertension. 2003 Mar;21(3):621-4	B2 bradykinin receptor (B2BKR) polymorphism and change in left ventricular mass in response to antihypertensive treatment: results from theSwedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA) trial		113503	8879	2	2003	 Our results suggest an impact of the B2BKR polymorphism on LV mass regression during antihypertensive treatment.	Cohort 90 patients with essential hypertension and echocardiographically diagnosed LV hypertrophy 	atenolol irbesartan									
117786		asthma	IMMUNE	IMM		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Weiss, J.  et al. 2003	12705334				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Clinical chemistry and laboratory medicine. 2003 Mar;41(3):281-3	Rapid and reliable genotyping of the C181T polymorphism in the bradykinin B2 receptor gene.		113503	8880	2	2003	In conclusion, increasing evidence suggests that the newer methods outmatch conventional techniques so that more and more institutions are changing their genotyping methods. Our newly developed method for genotyping the C181T polymorphism of the B2R gene may contribute to this development and might help to elucidate the role of this polymorphism for common acute and chronic disease states in which bradykinin has been identified as an important mediator.	Cohort 98 unrelated Caucasians Germany 										
117787	N	obesity	METABOLIC	MET	Insulin Resistance|Obesity	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Fallo, F.  et al. 2004	15114524	C-58T			Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Horm Metab Res. 2004 Apr;36(4):243-6	Bradykinin B2 receptor gene C-58T polymorphism and insulin resistance. A study on obese patients.		113503	8882	2	2004	The results indicate that the C-58T B (2)R gene polymorphism is not associated with different levels of insulin resistance within a population of obese patients.	Cohort 92 unrelated adults recruited by random sampling from a general population evaluated for cardiovascular risk stratification 										
117782	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Zychma MJ 2003	12481150				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			Y Wang	624	Hs.525572	nephropathy and blood pressure		American journal of nephrology. 2003 Mar-Apr;23(2):112-6	Polymorphic genes for kinin receptors, nephropathy and blood pressure in type 2 diabetic patients.		113503	977	1	2003	 Examined polymorphisms are not associated with the increased risk of incipient or overt nephropathy in type 2 diabetic patients. B(2)R C(181)T polymorphism may contribute to blood pressure variation in these subjects.	Case:153/132 type 2 diabetic patients with microalbuminuria (n=153) and overt nephropathy (n=132);Control:161 patients with normoalbuminuria despite diabetes duration longer than 10 years										
117783	N	asthma	IMMUNE	IMM	Asthma	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Kusser, B.  et al. 2001	11517947				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDPinfo	624	Hs.525572			Biological chemistry. 2001 May;382(5):885-9	Polymorphisms in the bradykinin B2 receptor gene and childhood asthma.		113503	8873	2	2001	no association was revealed, but age of onset was associated. This result warrants further investigation of the role of bradykinin in conferring susceptibility to pediatric asthma.	Control:73 controls (not specified in abstract);Case:77 children with asthma										
117784	N	angioedema	CARDIOVASCULAR	CARD	Angioedema|Angioedema	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Freiberger, T.  et al. 2002	12039525				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Caucasian	Czech Republic	CDC GDPinfo	624	Hs.525572			Human immunology. 2002 Jun;63(6):492-4	Exon 1 polymorphism of the B2BKR gene does not influence the clinical status of patients with hereditary angioedema.		113503	8876	2	2002	Therefore, we concluded that this polymorphism does not seem to have any significant effect on the course and severity of hereditary angioedema in Caucasians.	Cohort 37 patients with hereditary angioedema 										
117779	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Mukae S et al. 1999	10553917			promoter	Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2		Japan	KGB	624	Hs.525572			Japanese circulation journal. 1999 Oct;63(10):759-62	Promoter polymorphism of the beta2 bradykinin receptor gene is associated with essential hypertension.		113503	974	1	1999												
117780	Y	Asthma	IMMUNE	IMM	Asthma	14	14q32.1-q32.2	BDKRB2	95740949	95780538	P=<0.05	Kusser B 2001	11517947	BE1-2G allele			Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			KCB	624	Hs.525572			Biological chemistry. 2001 May;382(5):885-9	Polymorphisms in the bradykinin B2 receptor gene and childhood asthma.		113503	975	1	2001	no association was revealed, but age of onset was associated. This result warrants further investigation of the role of bradykinin in conferring susceptibility to pediatric asthma.	Control:73 controls (not specified in abstract);Case:77 children with asthma										
117781	Y	hypertension	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Dhamrait SS 2003	14499231				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			KGB	624	Hs.525572			European heart journal. 2003 Sep;24(18):1672-80	Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension.		113503	976	1	2003	 Common variation in the genes for the kinin B(1)and B(2)receptors influences prospective hypertensive coronary risk. These are the first reported human data to suggest a role for the B(1)R in human coronary vascular disease, and the first prospective study to demonstrate a similar role for the B(2)R.	Cohort 2,706 previously healthy UK men (mean age at recruitment 56 years; median follow-up 10.8 years)										
117775	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Dhamrait, S. S.  et al. 2003	14499231				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710			CDC GDPinfo	623	Hs.553486			European heart journal. 2003 Sep;24(18):1672-80	Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension.		600337	15417	2	2003	 Common variation in the genes for the kinin B(1)and B(2)receptors influences prospective hypertensive coronary risk. These are the first reported human data to suggest a role for the B(1)R in human coronary vascular disease, and the first prospective study to demonstrate a similar role for the B(2)R.	Cohort 2,706 previously healthy UK men (mean age at recruitment 56 years; median follow-up 10.8 years) 										
117776	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Cui, J.  et al. 2005	15643125				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710	African American		CDC GDPinfo	623	Hs.553486			Journal of hypertension. 2005 Jan;23(1):55-62	Sequence variation of bradykinin receptors B1 and B2 and association with hypertension.		600337	15419	2	2005	 These results support the hypothesis that the African-American population is an older population compared with the other samples and the two bradykinin receptors may play a role in blood pressure regulation.	Cohort 218/220/194 hypertensive and normotensive African-Americans (n = 218), American-Caucasians (n = 220) and Greek-Caucasians (n = 194) 										
117777	Y	Asthma	IMMUNE	IMM	Asthma	14	14q32.1-q32.2	BDKRB2	95740949	95780538	P=<0.05	Kusser B 2001	11517947	BE1-2G allele			Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			KCB	624	Hs.525572			Biological chemistry. 2001 May;382(5):885-9	Polymorphisms in the bradykinin B2 receptor gene and childhood asthma.		113503	972	1	2001	no association was revealed, but age of onset was associated. This result warrants further investigation of the role of bradykinin in conferring susceptibility to pediatric asthma.	Control:73 controls (not specified in abstract);Case:77 children with asthma										
117772	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Zychma MJ 2003	12481150				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710			Y Wang	623	Hs.553486	nephropathy and blood pressure		American journal of nephrology. 2003 Mar-Apr;23(2):112-6	Polymorphic genes for kinin receptors, nephropathy and blood pressure in type 2 diabetic patients.		600337	971	1	2003	 Examined polymorphisms are not associated with the increased risk of incipient or overt nephropathy in type 2 diabetic patients. B(2)R C(181)T polymorphism may contribute to blood pressure variation in these subjects.	Case:153/132 type 2 diabetic patients with microalbuminuria (n=153) and overt nephropathy (n=132);Control:161 patients with normoalbuminuria despite diabetes duration longer than 10 years										
117773	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Maltais, I.  et al. 2002	12025967				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710			CDC GDPinfo	623	Hs.553486			Canadian journal of physiology and pharmacology. 2002 Apr;80(4):323-7	Bradykinin B2 receptor gene polymorphism is associated with altered urinary albumin/creatinine values in diabetic patients.		600337	8875	2	2002	Thus, the B2R exon 1 polymorphism may represent a susceptibility marker for nephropathy progression in diabetic patients.	Cohort 49/112 type 1 diabetic patients (n=49) and type 2 diabetic patients (n=112) 										
117774	N	diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Zychma, M. J.  et al. 2003	12481150				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710			CDC GDPinfo	623	Hs.553486			American journal of nephrology. 2003 Mar-Apr;23(2):112-6	Polymorphic genes for kinin receptors, nephropathy and blood pressure in type 2 diabetic patients.		600337	15416	2	2003	 Examined polymorphisms are not associated with the increased risk of incipient or overt nephropathy in type 2 diabetic patients. B(2)R C(181)T polymorphism may contribute to blood pressure variation in these subjects.	Case:153/132 type 2 diabetic patients with microalbuminuria (n=153) and overt nephropathy (n=132);Control:161 patients with normoalbuminuria despite diabetes duration longer than 10 years										
117769	N	melanoma; nevi	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Jackson, S.  et al. 2005	15824163				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	613	Hs.550061			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):913-8	No Evidence for BRAF as a melanoma/nevus susceptibility gene.		164757	15460	2	2005	Our results therefore suggest that the BRAF polymorphism is not significantly associated with melanoma and the promoter insertion/deletion linked with the polymorphism is not a causal variant. In addition, we found that there was no association between the BRAF genotype and mean total number of banal or atypical nevi in either the cases or controls.	Case:581/258 consecutively recruited incident cases (n=581) and incident cases in a study of late relapse (n=258) and familial cases (n=184);Control:673 female general practitioner controls										
117770		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	22	22q11	BCR	21852551	21990224		Zhu, Y. L.  et al. 2005	15968309				Breakpoint cluster region	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004327.3			CDC GDPinfo	613	Hs.517461			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		151410	19294	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
117771	Y	hypertension	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Dhamrait SS 2003	14499231				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710			KGB	623	Hs.553486			European heart journal. 2003 Sep;24(18):1672-80	Variation in bradykinin receptor genes increases the cardiovascular risk associated with hypertension.		600337	970	1	2003	 Common variation in the genes for the kinin B(1)and B(2)receptors influences prospective hypertensive coronary risk. These are the first reported human data to suggest a role for the B(1)R in human coronary vascular disease, and the first prospective study to demonstrate a similar role for the B(2)R.	Cohort 2,706 previously healthy UK men (mean age at recruitment 56 years; median follow-up 10.8 years)										
117766		lymphoma	CANCER	CAN	Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular	3	3q27	BCL6	188921858	188946169		Jardin, F.  et al. 2005	16094416			intron	B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			CDC GDPinfo	604	Hs.478588			Leukemia. 2005 Oct;19(10):1824-30	Clinical and biological relevance of single-nucleotide polymorphisms and acquired somatic mutations of the BCL6 first intron in follicular lymphoma.		109565	8870	2	2005												
117767	N	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	3	3q27	BCL6	188921858	188946169		Susova, S.  et al. 2005	16125304				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			CDC GDPinfo	604	Hs.478588			Cancer letters. 2005	Single nucleotide polymorphism in 5'-flanking region of BCL6 is not associated with increased risk of non-Hodgkin's lymphoma.		109565	8871	2	2005												
117768		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	22	22q11	BCR	21852551	21990224		Tian, H.  et al. 2004	15248918				Breakpoint cluster region	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004327.3			CDC GDPinfo	613	Hs.517461			Ai zheng. 2004 Jul;23(7):812-5	[Polymorphism analysis of 5' promotor region of BCR gene]		151410	8872	2	2004	 Sequence polymorphisms were found in the 5' promotor region of BCR gene, most of them being SNPs. No relativity can be validated between the SNPs and the disease. But it appears that some SNPs might have the probability of bringing influence to the transcription and expression of the gene.	Control:19:controls;Case:30 chronic myelogenous leukemia cases										
117763		primary bone lymphomas.	OTHER	OTH	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular|Bone Neoplasms	3	3q27	BCL6	188921858	188946169		Gianelli U 2003	14513282				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			Annals of hematology. 2003 Nov;82(11):691-5	Mutations of the 5' noncoding region of the BCL-6 gene in primary bone lymphomas.		109565	965	1	2003												
117764		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, Diffuse|Lymphoma, Follicular|Cell Transformation, Neoplastic|Translocation, Genetic|Disease Progression	3	3q27	BCL6	188921858	188946169		Akasaka T 2003	12738680				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			Blood. 2003 Aug;102(4):1443-8	BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.		109565	966	1	2003												
117765	Y	lymphoma, follicle center	OTHER	OTH	Lymphoma, Follicular	3	3q27	BCL6	188921858	188946169		Lossos, I. = S et al. 2001	11911418				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			CDC GDPinfo	604	Hs.478588			Leukemia & lymphoma. 2001 Nov-Dec;42(6):1343-50	A polymorphism in the BCL-6 gene is associated with follicle center lymphoma.		109565	8869	2	2001	The present study demonstrates a possible association between the 397C allele of the BCL-6 proto-oncogene and FCL. The similar levels of BCL-6 mRNA expression in 397G-G and in 397G-C FCL cases suggests that any possible oncogenic effect of the polymorphic allele would not simply be related to a direct effect on BCL-6 gene expression and suggests the existence of other FCL susceptibility genes that are in linkage disequilibrium with the 397C allele of the BCL-6 gene.	Case:85 follicle center lymphoma patients;Control:90 samples from the DNA Polymorphism Discovery:Resource;Control:98 control cases without a previous history of malignancy treated at Stanford University Medical Center for non-malignant disorders:California										
117760	Y	follicle center lymphoma	OTHER	OTH	Lymphoma, Follicular	3	3q27	BCL6	188921858	188946169		Lossos IS et al. 2001	11911418				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			Leukemia & lymphoma. 2001 Nov-Dec;42(6):1343-50	A polymorphism in the BCL-6 gene is associated with follicle center lymphoma.		109565	962	1	2001	The present study demonstrates a possible association between the 397C allele of the BCL-6 proto-oncogene and FCL. The similar levels of BCL-6 mRNA expression in 397G-G and in 397G-C FCL cases suggests that any possible oncogenic effect of the polymorphic allele would not simply be related to a direct effect on BCL-6 gene expression and suggests the existence of other FCL susceptibility genes that are in linkage disequilibrium with the 397C allele of the BCL-6 gene.	Case:85 follicle center lymphoma patients;Control:90 samples from the DNA Polymorphism Discovery:Resource;Control:98 control cases without a previous history of malignancy treated at Stanford University Medical Center for non-malignant disorders:Californi										
117761		Atopy	IMMUNE	IMM	Asthma|Dermatitis, Atopic	3	3q27	BCL6	188921858	188946169		Adra 1998	9831352	HindIII RF			B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			Clinical genetics. 1998 Oct;54(4):362-4			109565	963	1	1998												
117762	Y	follicular lymphoma	CANCER	CAN	Lymphoma, Follicular|Cell Transformation, Neoplastic	3	3q27	BCL6	188921858	188946169		Szereday Z et al. 2000	10702417				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			The American journal of pathology. 2000 Mar;156(3):1017-24	Somatic mutation of the 5' noncoding region of the BCL-6 gene is associated with intraclonal diversity and clonal selection in histological transformation of follicular lymphoma.		109565	964	1	2000												
117757	Y	cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	19	19q13.1-q13.2	BCL3	49943870	49955140			16311697				B-cell CLL/lymphoma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005178.2			CDC GDPinfo	602	Hs.31210			Rev Med Chil. 2005 Sep;133(9):1051-8	[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population.]		109560	19219	2	2005												
117758		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	19	19q13.1-q13.2	BCL3	49943870	49955140		Murray, J. C.   2002	12030886				B-cell CLL/lymphoma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005178.2			CDC GDPinfo	602	Hs.31210			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		109560	19828	2	2002	Review article											
117759		diffuse large-cell subtype	OTHER	OTH	Lymphoma, AIDS-Related|Lymphoma, Large-cell, Diffuse	3	3q27	BCL6	188921858	188946169		Gaidano G et al. 1994	8025268				B-cell CLL/lymphoma 6 (zinc finger protein 51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001706.2			KGB	604	Hs.478588			Blood. 1994 Jul;84(2):397-402	Rearrangements of the BCL-6 gene in acquired immunodeficiency syndrome-associated non-Hodgkin's lymphoma: association with diffuse large-cell subtype.		109565	961	1	1994												
117754		hematology indices	HEMATOLOGICAL	HEM		18	18q21.33	BCL2	58941558	59137637		Zeng, S. M.  et al. 2003	14714449				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDPinfo	596	Hs.150749			The journal of gender-specific medicine. 2003 ;6(4):36-42	Sequence-based polymorphisms in members of the apoptosis Bcl-2 gene family and their association with hematocrit level		151430	20575	2	2003	 Polymorphism in the 5'-region of Bax was associated with gender-based HCT differences. This is theoretically due to gender-based hormonal effects on gene transcription mediated by the different polymorphisms.	Cohort 200 males and females with the highest or lowest HCT in a population of 819 healthy people in Iowa Iowa 										
117755		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Kuhlmann, T.  et al. 2002	12161031				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDPinfo	596	Hs.150749			Journal of neuroimmunology. 2002 Aug;129(2-Jan):154-60	Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis.		151430	20576	2	2002	No significant differences in the frequency of gene sequence variations were found between MS patients and controls. The apoptosis genes studied here therefore appear less likely to be important effector genes in MS.	Case:105 multiple sclerosis patients with a relapsing remitting disease course;Control:99:controls										
117756		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	20	20q11.21	BCL2L1	29715921	29775390		Kuhlmann, T.  et al. 2002	12161031				BCL2-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138578.1			CDC GDPinfo	598	Hs.516966			Journal of neuroimmunology. 2002 Aug;129(2-Jan):154-60	Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis.		600039	24088	2	2002	No significant differences in the frequency of gene sequence variations were found between MS patients and controls. The apoptosis genes studied here therefore appear less likely to be important effector genes in MS.	Case:105 multiple sclerosis patients with a relapsing remitting disease course;Control:99:controls										
117751	Y	leukemia/lymphoma, T-Cell	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Tsukasaki, K.  et al. 2001	11325850				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDPinfo	596	Hs.150749			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		151430	8865	2	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
117752	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Wu, H.  et al. 2002	12133517				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDPinfo	596	Hs.150749			Zhonghua yi xue za zhi. 2002 Apr;82(7):467-70	[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus]		151430	8866	2	2002	 Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.	Case blood from 232 nuclear families;Control:106 ethnically matched normal controls										
117748		breast and carcinoma	CANCER	CAN	Carcinoma in Situ|Breast Neoplasms|Neoplasms, Hormone-Dependent|Lymphatic Metastasis	18	18q21.33	BCL2	58941558	59137637		Leek RD et al. 1994	8286195				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			British journal of cancer. 1994 Jan;69(1):135-9	bcl-2 in normal human breast and carcinoma association with oestrogen receptor-positive epidermal growth factor receptor-negative tumours and in situ cancer.		151430	958	1	1994												
117749		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Mehrian R 1998	9550468				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			Y Wang	596	Hs.150749			Arthritis and rheumatism. 1998 Apr;41(4):596-602	Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus.		151430	959	1	1998	 The results suggest that individuals carrying specific genotypes of both bcl-2 and IL-10 are at significant risk of developing SLE.											
117750		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Heding PE 2004	11704806				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2	Danish, Finnish and Basque Caucasians	Finland|Denmark|Spain	Y Wang	596	Hs.150749			Genes and immunity. 2001 Nov;2(7):398-400	No evidence of a functionally significant polymorphism of the BCL2 gene in Danish, Finnish and Basque type 1 diabetes families.		151430	960	1	2004												
117743	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Wu H et al. 2002	12133517				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			Zhonghua yi xue za zhi. 2002 Apr;82(7):467-70	Association between Bcl-2 gene polymorphism with systemic lupus erythematosus		151430	953	1	2002	 Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.	Case blood from 232 nuclear families;Control:106 ethnically matched normal controls										
117745		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	18	18q21.33	BCL2	58941558	59137637		Johansson C et al. 2000	11196685				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2		Mexico|Sweden	KGB	596	Hs.150749			Genes and immunity. 2000 Aug;1(6):380-5	Association analysis with microsatellite and SNP markers does not support the involvement of BCL-2 in systemic lupus erythematosus in Mexican and Swedish patients and their families.		151430	955	1	2000												
117746	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Wu H et al. 2002	12133494				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			Zhonghua yi xue za zhi. 2002 Apr;82(8):515-8	Association between Bcl-2 gene polymorphism with systemic lupus erythematosus		151430	956	1	2002	 Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.											
117739		maple syrup urine disease	METABOLIC	MET	Maple Syrup Urine Disease	6	6q13-q15	BCKDHB	80873082	81112706		Edelmann, L.  et al. 2001	11509994				Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183050.1			CDC GDPinfo	594	Hs.436387			American journal of human genetics. 2001 Oct;69(4):863-8	Maple syrup urine disease: identification andcarrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.		248611	15410	2	2001	These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.	large scale population screening of Ashkenazi Jewish individuals 										
117740	Y	blast crisis of chronic myeloid leukaemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Blast Crisis|Genetic Predisposition to Disease	1	1p22	BCL10	85504047	85516171	n	Bose S et al. 1999	10557068				B-cell CLL/lymphoma 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003921.2			KGB	8915	Hs.193516			Leukemia. 1999 Nov;13(11):1894-6	Mutations of the BCL10 gene are not associated with the blast crisis of chronic myeloid leukaemia.		603517	6607	1	1999												
117741		testicular cancer	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	1	1p22	BCL10	85504047	85516171		Inoue, T.  et al. 2005	16229939				B-cell CLL/lymphoma 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003921.2			CDC GDPinfo	8915	Hs.193516			Cancer letters. 2005	Association of BCL10 germ line polymorphisms on chromosome 1p with advanced stage testicular germ cell tumor patients.		603517	8864	2	2005												
117736	Y	coronary artery disease	CARDIOVASCULAR	CARD	Alzheimer Disease|Coronary Artery Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Nassar, B. A.  et al. 2002	12074828				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Clinical biochemistry. 2002 May;35(3):205-9	=>Author:Nassar, B. A. //Darvesh, S. //Bevin, L. D. //Rockwood, K. //Kirkland, S. A. //O'Neill, B. J. //Bata, I. R. //Johnstone, D. E. //Title, L. M.		177400	20574	2	2002	 Our study suggests that there is a minor association between BChE-K and early-onset CAD, especially in the presence of the APOE-epsilon 4 allele.	Case:150 patients with early-onset CAD (< 50 yr);Case:150 patients with late-onset CAD (>65 yr)										
117737		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Prince, J. A.  et al. 2001	11436125				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1		Sweden	CDC GDPinfo	590	Hs.420483			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		177400	25864	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
117738		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Cacabelos, R.   2002	12452480				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		177400	26796	2	2002	Review article											
117733	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Raygani, A. V.  et al. 2004	15519745				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Neuroscience letters. 2004 Nov;371(3-Feb):142-6	Analysis of association between butyrylcholinesterase K variant and apolipoprotein E genotypes in Alzheimer's disease.		177400	20571	2	2004	We have found that BChE-K and ApoE-varepsilon4 alleles act synergistically to increase the risk of the late-onset AD, particularly in age group <75 years in Tehran, Iran.	Case:105 Alzheimer's disease patients:Iran;Control:129 age and sex matched controls										
117734	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Hashim, Y.  et al. 2001	11793025				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Caucasian		CDC GDPinfo	590	Hs.420483			Diabetologia. 2001 Dec;44(12):2227-30	Butyrylcholinesterase K variant on chromosome 3 q is associated with Type II diabetes in white Caucasian subjects.		177400	20572	2	2001	The association of the BcHE gene (3q26) with Type II diabetes could be related to an identified susceptibility locus on chromosome 3q27 but appears to be independent of islet function. The absence of diabetes-specific associations with alpha2M, ApoE or ApoE promoter variants suggest that these are not important in the onset of hyperglycaemia.	Case:276 type 2 diabetic subjects from United Kingdom Prospective Diabetes Study;Control:351 non-diabetic subjects from the Diabetes In Families:study										
117730	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Alvarez-Arcaya, A.  et al. 2000	11125748				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Acta neurologica Scandinavica. 2000 Dec;102(6):350-3	The butyrylcholinesterase K variant is a protective factor for sporadic Alzheimer's disease in women.		177400	20568	2	2000	 Our study is the first to demonstrate that lower susceptibility to AD determined by the K variant of BCHE is dependent on gender.	Case:249 AD patients:Spain;Control:250 non-AD individuals from the same population:Spain										
117731		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Lehmann, D. J.  et al. 2001	11738493				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Neuroscience. 2001 ;108(4):541-54	Using meta-analysis to explain the diversity of results in genetic studies of late-onset Alzheimer's disease and to identify high-risk subgroups		177400	20569	2	2001	This analysis leads to the identification of a	Case not defined in abstract;Control not defined in abstract										
117732	Y	neuropathy, Alzheimer's disease related	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Ghebremedhin, E.  et al. 2002	11849755				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Neuroscience letters. 2002 Mar;320(2-Jan):25-8	Age-dependent association between butyrylcholinesterase K-variant and Alzheimer disease-related neuropathology in human brains.		177400	20570	2	2002	The results show that the association between BCHE-K and AD-related neuropathology only was limited to homozygotes for the K allele (P=0.036 for NFTs, and P=0.045 for A[beta]-deposits) at ages [greater-than-or-equal]70 years but not 50--69 years. Furthermore, no interaction was apparent between BCHE-K and ApoE.	Cohort 521 alzheimer's disease cases 										
117727	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Bi, S.  et al. 2001	12901493				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Chinese	China	CDC GDPinfo	590	Hs.420483			Chinese medical sciences journal. 2001 Jun;16(2):71-5	Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese.		177400	17998	2	2001	 A positive correlation was found between LRP gene polymorphism and AD, but not between BchE gene polymorphism and AD in Chinese AD cases.	Case:38 Chinese Alzheimer's disease cases;Control:40:controls										
117729		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Cook, L. J.  et al. 2005	15690550				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):8-May	Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.		177400	20567	2	2005	Replication analyses of these two loci failed to detect any significant association for disease in our case-control samples.	Case Alzheimer's disease cases from two sample sets;Control controls from two sample sets										
117724	Y	dementia	PSYCH	PSY	Lewy Body Disease|Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Ballard, C.  et al. 2005	15802910				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Dementia and geriatric cognitive disorders. 2005 ;19(6-May):357-60	The k variant of the butyrylcholinesterase gene is associated with reduced phosphorylation of tau in dementia patients.		177400	15408	2	2005	BuChE may play this role in the phosphorylation of tau, relevant to therapeutic inhibition of the enzyme.	Cohort 30 prospectively studied autopsy-diagnosed dementia (Alzheimer's disease and dementia with Lewy bodies) patients 										
117725	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	3	3q26.1-q26.2	BCHE	166973386	167037944		Holmes, C.  et al. 2005	15834019				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Journal of neurology, neurosurgery, and psychiatry. 2005 May;76(5):640-3	Rate of progression of cognitive decline in Alzheimer's disease: effect ofbutyrylcholinesterase K gene variation.		177400	15409	2	2005	 This finding is consistent with the suggestion that the K variant of butyrylcholinesterase has an important role in disease progression in AD, and this may have implications for treatment.	Cohort 339 community based subjects with Alzheimer's disease 										
117726		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Combarros, O.  et al. 2005	16020944				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1		Spain	CDC GDPinfo	590	Hs.420483			Dementia and geriatric cognitive disorders. 2005 ;20(3-Feb):153-7	Interaction between CYP19 aromatase and butyrylcholinesterase genes increases Alzheimer's disease risk.		177400	16000	2	2005				CYP19	C/C	BCHE	non-K			Y		Alzheimer's disease
117721		body mass; height; weight	METABOLIC	MET		3	3q26.1-q26.2	BCHE	166973386	167037944		Souza, R. L.  et al. 2005	15386241				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			American journal of physical anthropology. 2005 Mar;126(3):329-34	Possible influence of BCHE locus of butyrylcholinesterase on stature and body mass index.		177400	15405	2	2005	This study reports the first data on the relation of BCHE alleles to anthropometric characters.	Cohort individuals 										
117722		muscle testing	NORMALVARIATION	NV		3	3q26.1-q26.2	BCHE	166973386	167037944		Gatke, M. R.  et al. 2005	15731585				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Anesthesiology. 2005 Mar;102(3):503-8	Response to mivacurium in patients carrying the k variant in the butyrylcholinesterase gene.		177400	15406	2	2005	 The K variant prolongs the duration of action of mivacurium. The current results indicate that the effect is modest when the K variant occurs heterozygously with the wild type or the A variant but is marked in patients who are homozygous for both the A and K variants.	Cohort 58 patients carrying either the wild-type butyrylcholinesterase or different combinations of the atypical (A) variant and the K variant 	mivacurium									
117723		Alzheimer's Disease	NEUROLOGICAL	NEUR		3	3q26.1-q26.2	BCHE	166973386	167037944		Souza, R. L.  et al. 2005	15781196				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Molecular genetics and metabolism. 2005 Apr;84(4):349-53	Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.		177400	15407	2	2005		Cohort 3,001 Brazilian blood donors 										
117718		apnea, post-succinylcholine	OTHER	OTH	Apnea	3	3q26.1-q26.2	BCHE	166973386	167037944		Yen, T.  et al. 2003	12881446				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Australian	Australia	CDC GDPinfo	590	Hs.420483			Clinical chemistry. 2003 Aug;49(8):1297-308	Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.		177400	15402	2	2003	 A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients.	Cohort 65 patietns referred after prolonged poast-succinylcholine apnea 1999-2002 										
117719	Y	butyrylcholinesterase activity	NORMALVARIATION	NV		3	3q26.1-q26.2	BCHE	166973386	167037944		Babaoglu, M. O.  et al. 2004	14735258			coding sequence	Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Turkish		CDC GDPinfo	590	Hs.420483			European journal of clinical pharmacology. 2004 Feb;59(12):875-7	Frequency and enzyme activity of the butyrylcholinesterase K-variant in a Turkish population.		177400	15403	2	2004	 The frequency of the BChE K-variant was significantly higher in a Turkish population than those reported for other populations and it is associated with a diminished enzyme activity.	Cohort 77 patients administered for elective surgery Turkey 										
117720	Y	body mass; diabetes, type 2; glucose tolerance; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	BCHE	166973386	167037944		Johansen, A.  et al. 2004	15258737				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Danish		CDC GDPinfo	590	Hs.420483			Diabetologia. 2004 Aug;47(8):1437-41	Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion.		177400	15404	2	2004	The present study does not support the suggestion that the BCHE K polymorphism is associated with Type 2 diabetes or with estimates of pancreatic beta cell function in large-scale Danish Caucasian populations.	Case:1,408 type 2 diabetic patients;Control:4,935 glucose-tolerant Caucasians										
117715		body mass; height; weight	METABOLIC	MET		3	3q26.1-q26.2	BCHE	166973386	167037944		Gatke, M. R.  et al. 2002	12387584	Asp70Gly and Ala539Thr			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Scandinavian journal of clinical and laboratory investigation. 2002 ;62(5):375-83	Rapid simultaneous genotyping of the frequent butyrylcholinesterase variants Asp70Gly and Ala539Thr with fluorescent hybridization probes		177400	15399	2	2002	 A high-speed and easy to perform mutation detection assay has been established for the two most common mutations, Asp70Gly and Ala539Thr, in BChE, using the LightCycler technology and melting curves.	Cohort 80 subjects 										
117716		cholinesterase activity	METABOLIC	MET		3	3q26.1-q26.2	BCHE	166973386	167037944		Acuna, M.  et al. 2003	12687586				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Chilean Mapuche Indians		CDC GDPinfo	590	Hs.420483			American journal of physical anthropology. 2003 May;121(1):81-5	Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians.		177400	15400	2	2003	Although enzymatic methods rarely detect the presence of allele BCHE*K, PCR-PIRA found the allele in an appreciable frequency (5.76%), although lower than that found in other ethnic groups. Since observed frequencies of unusual alleles correspond to estimated percentages of European admixture, it is likely that none of these unusual alleles were present in	Cohort three tribes of Mapuche Indians southern Chile 										
117717		cholinesterase activity	METABOLIC	MET		3	3q26.1-q26.2	BCHE	166973386	167037944		Lando, G.  et al. 2003	12724618				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Italian		CDC GDPinfo	590	Hs.420483			Pharmacogenetics. 2003 May;13(5):265-70	Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: anItalian-population study.		177400	15401	2	2003	 Data obtained from this study help to better define the etiology of low BChE activity and the role of the rather common K allele. It is the first time that such a large population has been screened for so many mutations. BChE is also implicated in detoxifying cocaine; therefore genetic analysis could be useful in cases of cocaine toxicity in Italian subjects.	Cohort 58 individuals with low serum cholinesterase activity selected from a large group of healthy blood donors 										
117713		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Zheng, J.  et al. 2005	16105444				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Apr;23(2):83-6	[Relationship between the polymorphism of carboxylic esterases and genetic susceptibility to organophosphates pesticides exposure]		177400	8863	2	2005	 Genotypes of BChE-K, PON-192 and PON-55 are related to susceptibility to OPs exposure.											
117714	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Kim, K. W.  et al. 2001	11725818				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Korean	Korea	CDC GDPinfo	590	Hs.420483			J Neural Transm. 2001 ;108(10):1159-66	Neither the butyrylcholinesterase K variant nor transferrin C2 variant confers a risk for Alzheimer's disease in Koreans.		177400	15398	2	2001	In conclusion, neither the BCHE K nor the TF C2 confers a risk for AD.	Case:164 sporadic Alzheimer's disease patients:Korea;Control:239 normal elderly controls										
117709	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944	p=0.00017	Hashim Y 2001	11793025	K			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Caucasian		TJB	590	Hs.420483			Diabetologia. 2001 Dec;44(12):2227-30	Butyrylcholinesterase K variant on chromosome 3 q is associated with Type II diabetes in white Caucasian subjects.		177400	938	1	2001	The association of the BcHE gene (3q26) with Type II diabetes could be related to an identified susceptibility locus on chromosome 3q27 but appears to be independent of islet function. The absence of diabetes-specific associations with alpha2M, ApoE or ApoE promoter variants suggest that these are not important in the onset of hyperglycaemia.	Case:276 type 2 diabetic subjects from United Kingdom Prospective Diabetes Study;Control:351 non-diabetic subjects from the Diabetes In Families:study										
117710	Y	late-onset AD	OTHER	OTH	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Crawford F et al. 1998	9682830				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	clinic- and community-based		KGB	590	Hs.420483			Neuroscience letters. 1998 Jun;249(3-Feb):115-8	The butyrylcholinesterase gene is neither independently nor synergistically associated with late-onset AD in clinic- and community-based populations.		177400	939	1	1998												
117711	Y	BCHE serum levels	METABOLIC	MET		3	3q26.1-q26.2	BCHE	166973386	167037944		Bartels CF et al. 1992	1349196	J variant of BCHE			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			KGB	590	Hs.420483			American journal of human genetics. 1992 May;50(5):1104-14	DNA mutations associated with the human butyrylcholinesterase J-variant.		177400	940	1	1992												
117705	Y	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Ghebremedhin E 2002	11849755	K			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			TJB	590	Hs.420483			Neuroscience letters. 2002 Mar;320(2-Jan):25-8	Age-dependent association between butyrylcholinesterase K-variant and Alzheimer disease-related neuropathology in human brains.		177400	934	1	2002	The results show that the association between BCHE-K and AD-related neuropathology only was limited to homozygotes for the K allele (P=0.036 for NFTs, and P=0.045 for A[beta]-deposits) at ages [greater-than-or-equal]70 years but not 50--69 years. Furthermore, no interaction was apparent between BCHE-K and ApoE.	Cohort 521 alzheimer's disease cases										
117706	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944	n	Grubber JM 1999	10430518	K			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			TJB	590	Hs.420483			Neuroscience letters. 1999 Jul;269(2):115-9			177400	935	1	1999	We conclude that  BCHE-K is not a major genetic risk factor for AD in our study population.	Case:245; Control:241										
117707	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944	n	Singleton AB 1998	9536100	K			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			TJB	590	Hs.420483			Human molecular genetics. 1998 May;7(5):937-9			177400	936	1	1998	We conclude that  in the population studied here there is no association between BCHE-K and AD, or that if such a relationship exists it is precluded by another, as yet unknown factor.											
117702		colon cancer	CANCER	CAN	Colonic Neoplasms|Genomic Instability	19	19q13.3-q13.4	BAX	54149928	54156867			16380996				BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDPinfo	581	Hs.631546			International journal of cancer Journal international du cancer. 2005	Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers		600040	20565	2	2005												
117703	N	obesity	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity|Genetic Predisposition to Disease	11	11q13.1	BBS1	66021344	66057660		Fan, Y.  et al. 2004	14993910				Bardet-Biedl syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005700.3		Newfoundland	CDC GDPinfo	582	Hs.502915			International journal of obesity and related metabolic disorders. 2004 May;28(5):680-4	Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.		209901	15397	2	2004	 The high frequency of BBS1 in Newfoundland appears to be the result of a founder event. Our data do not support the hypothesis that the M390R BBS1 mutation plays a significant role in the frequency of obesity in the general public in Newfoundland.	Case:200 obese individuals:Newfoundland;Control:200 ethnically matched, unrelated, controls										
117704		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	20	20q13.2-q13.3	BCAS1	51993923	52120490		Burmester, J. K.  et al. 2004	15583422				Breast carcinoma amplified sequence 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003657.1			CDC GDPinfo	8537	Hs.400556			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		602968	15595	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
117699	N	leukemia, chronic lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Chronic	19	19q13.3-q13.4	BAX	54149928	54156867		Skogsberg, A.  et al. 2005	16307023	G(-248)A		promoter	BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDPinfo	581	Hs.631546			Leukemia. 2005	The G(-248)A polymorphism in the promoter region of the Bax gene does not correlate with prognostic markers or overall survival in chronic lymphocytic leukemia.		600040	8862	2	2005												
117700		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19q13.3-q13.4	BAX	54149928	54156867		Kuhlmann, T.  et al. 2002	12161031				BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDPinfo	581	Hs.631546			Journal of neuroimmunology. 2002 Aug;129(2-Jan):154-60	Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis.		600040	8867	2	2002	No significant differences in the frequency of gene sequence variations were found between MS patients and controls. The apoptosis genes studied here therefore appear less likely to be important effector genes in MS.	Case:105 multiple sclerosis patients with a relapsing remitting disease course;Control:99:controls										
117701		hematology indices	HEMATOLOGICAL	HEM		19	19q13.3-q13.4	BAX	54149928	54156867		Zeng, S. M.  et al. 2003	14714449				BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDPinfo	581	Hs.631546			The journal of gender-specific medicine. 2003 ;6(4):36-42	Sequence-based polymorphisms in members of the apoptosis Bcl-2 gene family and their association with hematocrit level		600040	8868	2	2003	 Polymorphism in the 5'-region of Bax was associated with gender-based HCT differences. This is theoretically due to gender-based hormonal effects on gene transcription mediated by the different polymorphisms.	Cohort 200 males and females with the highest or lowest HCT in a population of 819 healthy people in Iowa Iowa 										
117696	Y	lymphocytic leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Disease Progression	19	19q13.3-q13.4	BAX	54149928	54156867		Saxena A et al. 2002	12359369				BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			KGB	581	Hs.631546			Cancer letters. 2002 Dec;187(2-Jan):199-205	Association of a novel single nucleotide polymorphism G(-248)A in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance.		600040	932	1	2002												
117697		B cell chronic lymphocytic leukaemia.	CANCER	CAN	Leukemia, B-cell, Chronic	19	19q13.3-q13.4	BAX	54149928	54156867		Moshynska O 2003	12890741			5'promoter	BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			KGB	581	Hs.631546			Molecular pathology. 2003 Aug;56(4):205-9	Molecular detection of the G(-248)A BAX promoter nucleotide change in B cell chronic lymphocytic leukaemia.		600040	933	1	2003	 REA using Aci I is a highly sensitive and specific method for detecting the BAX G(-248)A SNP in CLL.											
117698		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic	19	19q13.3-q13.4	BAX	54149928	54156867		Starczynski, J.  et al. 2005	15735127			promoter	BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDPinfo	581	Hs.631546			Journal of clinical oncology. 2005 Mar;23(7):1514-21	Common polymorphism G(-248)A in the promoter region of the bax gene results in significantly shorter survival in patients with chronic lymphocytic Leukemia once treatment is initiated.		600040	8861	2	2005	 The presence of this single nucleotide polymorphism in CLL critically influences the response to treatment and overall survival. Given the relatively high prevalence of this polymorphism in the normal population, further prospective studies in CLL and other human malignancies are indicated.	Control normal controls;Case:203 chronic lymphocytic leukemia patients	chemotherapy									
117693		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	BAT2	31696575	31713516		Urcelay, E.  et al. 2005	15842729				HLA-B associated transcript 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080686.1	Spanish		CDC GDPinfo	7916	Hs.436093			BMC genomics [electronic resource]. 2005 Apr;6(1):56	Type 1 diabetes in the Spanish population:additional factors to class II HLA-DR3 and -DR4.		142580	17316	2	2005	 Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype.	Case:302 type 1 diabetic patients;Control:529 ethnically matched controls										
117694	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	BAT2	31696575	31713516		Martinez, A.  et al. 2004	15077289				HLA-B associated transcript 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080686.1			CDC GDPinfo	7916	Hs.436093			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		142580	18108	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
117695		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	BAT2	31696575	31713516		Fernandez, L.  et al. 2005	16116311				HLA-B associated transcript 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080686.1	Spanish	Spain	CDC GDPinfo	7916	Hs.436093			Inflammatory bowel diseases. 2005 Sep;11(9):785-91	A recombined haplotype in the major histocompatibility region contains a cluster of genes conferring high susceptibility to ulcerative colitis in the Spanish population.		142580	19909	2	2005	 The above-mentioned pattern, most likely formed by recombination of the telomeric fragment of the MHC 7.1 ancestral haplotype, seems to be the most important genetic determinant of susceptibility to the extensive form of UC in our population.											
117688		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Vahteristo, P.  et al. 2005	16333312	Cys557Ser and Val507Met			BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1			CDC GDPinfo	580	Hs.591642			European journal of human genetics. 2006 Feb;14(2):167-72	BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition		601593	15396	2	2005												
117689		ulcerative colitis; asthma	IMMUNE	IMM	Myocardial Infarction|Disease Susceptibility	6	6p21.3	BAT1	31605974	31622606		Koch, W.  et al. 2005	15843211				HLA-B associated transcript 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130463.2	Japanese		CDC GDPinfo	7919	Hs.254042			Clinical chemistry and laboratory medicine. 2005 ;43(2):167-72	TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6.		142560	12248	2	2005	This Caucasian study group and the Japanese sample showed strong linkage disequilibrium in the myocardial infarction-associated BAT1-NFKBIL1-LTA genomic region and related haplotype content, but significantly different genotype frequencies. The new TaqMan systems provide relatively simple and fast assays to test the clinical relevance of these polymorphisms.	Cohort 1,211 Caucasians who presented without symptoms or signs of acute or previous myocardial infarction 										
117691		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	6	6p21.3	BAT1	31605974	31622606		Shichi, D.  et al. 2005	16101831				HLA-B associated transcript 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130463.2			CDC GDPinfo	7919	Hs.254042			Tissue antigens. 2005 Sep;66(3):200-8	The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.		142560	20564	2	2005												
117684		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	9	9p12	BAG1	33242469	33254761		Wieczorek, S.  et al. 2004	15309313				BCL2-associated athanogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004323.3			CDC GDPinfo	573	Hs.377484			Journal of molecular medicine (Berlin, Germany). 2004 Oct;82(10):696-705	Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.		601497	16816	2	2004	These results, although exploratory and still to be confirmed in independent samples, support a complex pathogenetic model for narcolepsy, including disturbances of neurotransmission rather than involvement of autoimmunity.	Cohort 254 narcolepsy subjects 										
117685		uterine cancers	CANCER	CAN	Mixed Tumor, Mullerian|Sarcoma|Adenocarcinoma|Adenocarcinoma, Clear Cell|Carcinoma, Endometrioid|Carcinoma, Intraductal, Noninfiltrating|Carcinoma, Lobular|Cystadenocarcinoma, Papillary|Breast Neoplasms|Carcinoma, Ductal, Breast|Ovarian Neoplasms|Uterine Neoplasms|Endometrial Neoplasms|Neoplasms, Multiple Primary|Neoplastic Syndromes, Hereditary	2	2q34-q35	BARD1	215301521	215382611		Thai TH et al. 1998	9425226				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1			KGB	580	Hs.591642			Human molecular genetics. 1998 Feb;7(2):195-202	Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast ovarian and uterine cancers.		601593	930	1	1998												
117687		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Ishitobi, M.  et al. 2003	14550946				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1		Japan	CDC GDPinfo	580	Hs.591642			Cancer letters. 2003 Oct;200(1):7-Jan	Mutational analysis of BARD1 in familial breast cancer patients in Japan		601593	15395	2	2003	These results suggest that BARD1 mutations are responsible for, if any, a very small number of familial breast cancers. Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer.	Case:143 population based breast cancer patients;Control:155 healthy controls										
117681	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	21	21q22.3	BACE2	41461597	41570394		Gold, G.  et al. 2003	12707937				Beta-site APP-cleaving enzyme 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012105.3			CDC GDPinfo	25825	Hs.529408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 May;119(1):44-7	Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers.		605668	15393	2	2003	We conclude that  sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone.	Control;Case:96 individuals with late-onset Alzheimer's disease										
117682		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	21	21q22.3	BACE2	41461597	41570394		Myllykangas, L.  et al. 2005	16023140				Beta-site APP-cleaving enzyme 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012105.3			CDC GDPinfo	25825	Hs.529408			Journal of the neurological sciences. 2005 Sep;236(2-Jan):17-24	Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study.		605668	20563	2	2005												
117683		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Ovarian Neoplasms	21	21q22.11	BACH1	29593090	29656086		Rutter, J. L.  et al. 2003	12872252				BTB and CNC homology 1, basic leucine zipper transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206866.1			CDC GDPinfo	571	Hs.154276			Human mutation. 2003 Aug;22(2):121-8	Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.		602751	15394	2	2003	Further analysis in unselected cases will be required to know whether the identified variants play a role in genetic predisposition to breast cancer in the general population.	Control:30 reference individuals;Case:58 early-onset breast cancer cases								N		breast cancer and ovarian cancer
117678		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Clarimon, J.  et al. 2003	12928915				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Journal of neurology. 2003 Aug;250(8):956-61	Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1.		604252	20562	2	2003	 These data suggest a possible genetic relation between BACE1 and AD.	Case Alzheimer's disease cases;Control:controls										
117679		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Cai, L.  et al. 2005	15931081				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3	Chinese	China	CDC GDPinfo	23621	Hs.504003			Neuroreport. 2005 Jun;16(9):1023-6	Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients.		604252	24087	2	2005	Through combination-analysis of the data about the A2M-I/D and the A2M-Ile1000Val variants, the A2M gene was suggested to be associated with Alzheimer's disease.	healthy subjects ;Case:387 Chinese han ethnic patients with Alzheimer's disase										
117680		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Cacabelos, R.   2002	12452480				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		604252	25863	2	2002	Review article											
117675	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Murphy, T.  et al. 2001	11234778				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Neuroreport. 2001 Mar;12(3):631-4	The BACE gene: genomic structure and candidate genestudy in late-onset Alzheimer's disease.		604252	15388	2	2001	we find no evidence that this locus influences risk for late-onset AD.	Case autopsy-confirmed late-onset AD cases;Control age-matched non-demented controls										
117676	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Cruts, M.  et al. 2001	11684351				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Neuroscience letters. 2001 Nov;313(2-Jan):105-7	Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease		604252	15389	2	2001	results suggest BACE is not genetically involved in the etiology of AD.	Cohort 101 presenile AD cases 										
117677	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Nicolaou, M.  et al. 2001	11714100				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Neurogenetics. 2001 Oct;3(4):203-6	Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease		604252	15390	2	2001	Our results revealed no evidence for either genetic linkage or allelic association between BACE and AD, and no coding sequence mutations were detected in the open reading frame of the BACE gene. These data suggest that while BACE protein plays an important role in the pathogenesis of AD, and may be a robust therapeutic target, it is unlikely to be a major AD susceptibility locus.	Case:155 Alzheimer's disease cases;Control:173 non-demented controls										
117672	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Liu, H. C.  et al. 2003	12535780				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			CDC GDPinfo	23621	Hs.504003			Brain research. 2003 Jan;961(1):88-91	The association of beta-site APP cleaving enzyme (BACE) C786G polymorphism with Alzheimer's disease		604252	8858	2	2003	No significant association of this polymorphism with the occurrence of AD can be established. Larger sample size may be necessary to identify other potential mutations/polymorphisms among BACE gene.	Control:138:controls;Case:98 Alzheimer's disease patients										
117673	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Shi, J.  et al. 2004	14681914				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3	Chinese	China	CDC GDPinfo	23621	Hs.504003			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):54-7	The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans.		604252	8859	2	2004	Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans.	Control:242/113 controls from Gangzhou (n=242) and Chengdu (n=113);Case:257/112 Alzheimer's disease patients from Gangzhou (n=257) and Chengdu (n=112)										
117674	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Kan, R.  et al. 2005	15784960				Beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3	Chinese		CDC GDPinfo	23621	Hs.504003			Journal of molecular neuroscience. 2005 ;25(2):127-31	Genetic association of BACE1 gene polymorphism C786G with late-onset Alzheimer's disease in Chinese.		604252	8860	2	2005	These results suggest that BACE1 gene polymorphism C786G might act as an APOE e4 allele-dependent risk factor for developing LOAD in Chinese.	Case:105 Chinese late-onset Alzheimer's disease patients;Control:130 healthy controls										
117668	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Liu HC et al. 2003	12535780				beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			KGB	23621	Hs.504003			Brain research. 2003 Jan;961(1):88-91	The association of beta-site APP cleaving enzyme (BACE) C786G polymorphism with Alzheimer's disease.		604252	6722	1	2003												
117669	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Cruts M et al. 2001	11684351				beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			KGB	23621	Hs.504003			Neuroscience letters. 2001 Nov;313(2-Jan):105-7	Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease.		604252	6723	1	2001												
117670		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Clarimon J 2003	12928915				beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			KGB	23621	Hs.504003			Journal of neurology. 2003 Aug;250(8):956-61	Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1.		604252	6724	1	2003	 These data suggest a possible genetic relation between BACE1 and AD.											
117671		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q23.3	BACE1	116661624	116692182		Kirschling CM 2003	12824768				beta-site APP-cleaving enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012104.3			KGB	23621	Hs.504003			Neuroreport. 2003 Jul;14(9):1243-6	Polymorphism in the BACE gene influences the risk for Alzheimer's disease.		604252	6725	1	2003												
117664	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder	1	1q32	AVPR1B	204390566	204398254		Van West, D.  et al. 2004	15094789				Arginine vasopressin receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000707.2			CDC GDPinfo	553	Hs.1372			Molecular psychiatry. 2004 Mar;9(3):287-92	A major SNP haplotype of the arginine vasopressin 1B receptor protects against recurrent major depression.		600264	15387	2	2004	Our data support a protective effect of this major haplotype for recurrent major depression.	Control matched controls;Case patients with recurrent major depression Belgian and Sweden										
117666		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	16	16p13.3	AXIN1	277440	342465		Fearnhead, N. S.  et al. 2004	15520370				Axin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003502.2			CDC GDPinfo	8312	Hs.592082			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(45):15992-7	Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.		603816	20561	2	2004	This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.	Case:124 patients with multiple adenomas;Control:483 random controls										
117667		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	15	15q21-q22.2	B2M	42790976	42797649		Owerbach D 2004	9166681				Beta-2-microglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004048.2			Y Wang	567	Hs.534255			Diabetes. 1997 Jun;46(6):1069-74	Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35.		109700	929	1	2004												
117661	Y	neurohypophyseal diabetes insipidus	OTHER	OTH	Diabetes Insipidus, Neurogenic	20	20p13	AVP	3011201	3013370		Santiprabhob J et al. 2002	12359138				Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000490.3			KGB	551	Hs.89648			Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):112-8	A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus.		192340	926	1	2002												
117662		diabetes	METABOLIC	MET	Diabetes Insipidus, Neurogenic	20	20p13	AVP	3011201	3013370		Christensen JH 2004	14678298				Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000490.3			KGB	551	Hs.89648			Clinical endocrinology. 2004 Jan;60(1):125-36	Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.		192340	927	1	2004	 Both mutations result in reduced AVP prohormone processing and secretion probably due to retention in the ER. This supports, at least partly, the hypothesis that the mutations lead to the production of a mutant hormone precursor that fails to fold and/or dimerize properly and, as a consequence, is retained by the ER protein quality control machinery. Perinuclear accumulation of the V67A prohormone outside the ER indicates that additional mechanisms could be involved.											
117663	Y	dance performance	OTHER	OTH		12	12q14-q15	AVPR1A	61826482	61832857		Bachner-Melman, R.  et al. 2005	16205790				Arginine vasopressin receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000706.3			CDC GDPinfo	552	Hs.2131			PLoS genetics. 2005 Sep;1(3):e42	AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance.		600821	8857	2	2005												
117658		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	3	3p21.1-p12	ATXN7	63825272	63962719		Brusco, A.  et al. 2004	15148151				Ataxin 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000333.2	Italian	Italy	CDC GDPinfo	6314	Hs.476595			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		607640	26795	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
117659	Y	hereditary dementia.	OTHER	OTH	Dementia	20	20p13	AVP	3011201	3013370		Yazaki M et al. 2001	11141496				Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000490.3			KGB	551	Hs.89648			The American journal of pathology. 2001 Jan;158(1):227-33	Biochemical characterization of a neuroserpin variant associated with hereditary dementia.		192340	924	1	2001												
117660	Y	neurohypophyseal diabetes insipidus	OTHER	OTH	Diabetes Insipidus	20	20p13	AVP	3011201	3013370		Repaske DR et al. 1994	8045958				Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000490.3			KGB	551	Hs.89648			The Journal of clinical endocrinology and metabolism. 1994 Aug;79(2):421-7	A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.		192340	925	1	1994												
117655		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias|Myoclonic Epilepsies, Progressive	14	14q24.3-q32.2	ATXN3	91598884	91642707		Wu, Y.  et al. 2004	14756671				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3		Taiwan	CDC GDPinfo	4287	Hs.532632			Clinical genetics. 2004 Mar;65(3):209-14	Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8and SCA17 are associated with typical Parkinson's disease.		607047	25860	2	2004	This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.	Cohort normal subjects and patients with ataxia and Parkinson's disease 										
117656		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	3	3p21.1-p12	ATXN7	63825272	63962719		Kim, J. Y.  et al. 2001	11804332				Ataxin 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000333.2	Korean	Korea	CDC GDPinfo	6314	Hs.476595			Molecules and cells. 2001 Dec;12(3):336-41	Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1,SCA2, SCA3, SCA6, and SCA7		607640	25861	2	2001	This mutation spectrum is quite different from a previous report concerning Koreans, but is similar to the distributions that are seen in several ethnic populations worldwide. For a correct and effective diagnosis of SCAs, we suggest that a molecular diagnosis be undertaken, even in patients without a family history, as well as those with a family history. A stepwise approach is also recommended. Patients with ataxia should be tested for SCA2 and SCA3. Individuals testing negative should be tested for SCA1, SCA6, and SCA7.	Cohort 76 spincerebellar ataxic patients Korea 										
117657		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	3	3p21.1-p12	ATXN7	63825272	63962719			16389595				Ataxin 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000333.2			CDC GDPinfo	6314	Hs.476595			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		607640	25862	2	2006												
117652		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	14	14q24.3-q32.2	ATXN3	91598884	91642707		Kim, J. Y.  et al. 2001	11804332				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3	Korean	Korea	CDC GDPinfo	4287	Hs.532632			Molecules and cells. 2001 Dec;12(3):336-41	Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1,SCA2, SCA3, SCA6, and SCA7		607047	24085	2	2001	This mutation spectrum is quite different from a previous report concerning Koreans, but is similar to the distributions that are seen in several ethnic populations worldwide. For a correct and effective diagnosis of SCAs, we suggest that a molecular diagnosis be undertaken, even in patients without a family history, as well as those with a family history. A stepwise approach is also recommended. Patients with ataxia should be tested for SCA2 and SCA3. Individuals testing negative should be tested for SCA1, SCA6, and SCA7.	Cohort 76 spincerebellar ataxic patients Korea 										
117653		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	14	14q24.3-q32.2	ATXN3	91598884	91642707			16389595				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDPinfo	4287	Hs.532632			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		607047	24086	2	2006												
117654		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	14	14q24.3-q32.2	ATXN3	91598884	91642707		Culjkovic, B.  et al. 2000	11121205				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDPinfo	4287	Hs.532632			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		607047	25859	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
117649		restless legs syndrome	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Restless Legs Syndrome	14	14q24.3-q32.2	ATXN3	91598884	91642707		Desautels, A.  et al. 2003	14746390				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDPinfo	4287	Hs.532632			Sleep. 2003 Dec;26(8):1055-7	Analysis of CAG repeat expansions in restless legs syndrome		607047	15382	2	2003	 These results do not provide evidence toward an involvement of large CAG trinucleotide expansions at the spinocerebellar ataxia type 3 locus in idiopathic restless legs syndrome.	Case:125 extensively characterized restless legs syndrome:patients;Control:188 healthy controls matched for ethnic background										
117650		spinocerebellar ataxia; muscular dystrophy; neuropathy	NEUROLOGICAL	NEUR	Spinocerebellar Degenerations|Neuromuscular Diseases	14	14q24.3-q32.2	ATXN3	91598884	91642707		Smith, C. O.  et al. 2004	15210524				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDPinfo	4287	Hs.532632			Archives of neurology. 2004 Jun;61(6):875-80	Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders		607047	15384	2	2004	 Most individuals find neurogenetic testing to be beneficial, regardless of the result. Anxiety or depression may persist in some persons with positive or negative test results. Testing can have a demonstrable impact on family planning and interpersonal relationships. Further studies are needed to assess the long-term impact of such testing.	Cohort 50 subjects at risk for autosomal dominant forms of spinocerebellar ataxia (n = 11), muscular dystrophy (n = 28), and hereditary neuropathy (n = 12) 										
117651		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Spinocerebellar Ataxias|Machado-Joseph Disease	14	14q24.3-q32.2	ATXN3	91598884	91642707		Svetel, M.  et al. 2003	12940846				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3		Yugoslavia	CDC GDPinfo	4287	Hs.532632			European journal of neurology. 2003 Sep;10(5):597	SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.		607047	20560	2	2003	These data do not prove the significance of these two mutations in either sporadic or familial YOP suggestive of Parkinson's disease.	Cohort 85 patients of Serbian origin with young-onset dopa-responsive parkinsonism 										
117646		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias|Myoclonic Epilepsies, Progressive	12	12q24.1	ATXN2	110374400	110521863		Wu, Y.  et al. 2004	14756671				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2		Taiwan	CDC GDPinfo	6311	Hs.76253			Clinical genetics. 2004 Mar;65(3):209-14	Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8and SCA17 are associated with typical Parkinson's disease.		601517	24084	2	2004	This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.	Cohort normal subjects and patients with ataxia and Parkinson's disease 										
117647		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	12	12q24.1	ATXN2	110374400	110521863		Brusco, A.  et al. 2004	15148151				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2	Italian	Italy	CDC GDPinfo	6311	Hs.76253			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		601517	25858	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
117648		Machado-Joseph disease	NEUROLOGICAL	NEUR		14	14q24.3-q32.2	ATXN3	91598884	91642707		Costa Mdo, C.  et al. 2002	12166658				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3	Portuguese		CDC GDPinfo	4287	Hs.532632			Journal of human genetics. 2002 ;47(4):205-7	Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.		607047	8849	2	2002	These intragenic polymorphisms can be useful for (1) the study of the origin of the MJD mutation(s), (2) the study of recombination events, (3) distinction of chromosomes with alleles of identical (CAG)n size in genetic tests (homoallelism), (4) the study of genetic modifiers in the region flanking the MJD1 gene, and (5) association studies in other diseases.	Cohort Portuguese control population 										
117643		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q24.1	ATXN2	110374400	110521863		Santos, M.  et al. 2004	15124760				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2	Portuguese	Portugal	CDC GDPinfo	6311	Hs.76253			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Apr;10(2):153-7	Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin.		601517	20557	2	2004	We did not observe an association of the epsilon4 or the 22 CAGs alleles with rate of progression in our total patient population; allele epsilon4 was associated with increased rate of progression of MS in a subset of patients with less than 10 years of the disease. However, globally in the Portuguese population, the APOE and SCA2 genes do not seem to be useful in the clinical context as prognostic markers of this disorder.	Control:192 healthy controls;Case:243 multiple sclerosis patients:Portugal										
117644		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	12	12q24.1	ATXN2	110374400	110521863		Kim, J. Y.  et al. 2001	11804332				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2	Korean	Korea	CDC GDPinfo	6311	Hs.76253			Molecules and cells. 2001 Dec;12(3):336-41	Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1,SCA2, SCA3, SCA6, and SCA7		601517	20558	2	2001	This mutation spectrum is quite different from a previous report concerning Koreans, but is similar to the distributions that are seen in several ethnic populations worldwide. For a correct and effective diagnosis of SCAs, we suggest that a molecular diagnosis be undertaken, even in patients without a family history, as well as those with a family history. A stepwise approach is also recommended. Patients with ataxia should be tested for SCA2 and SCA3. Individuals testing negative should be tested for SCA1, SCA6, and SCA7.	Cohort 76 spincerebellar ataxic patients Korea 										
117645		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	12	12q24.1	ATXN2	110374400	110521863			16389595				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2			CDC GDPinfo	6311	Hs.76253			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		601517	20559	2	2006												
117639		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3p21	CCR2	46370363	46377429		Galimberti, D.  et al. 2004	15465089				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of the neurological sciences. 2004 Oct;225(2-Jan):79-83	CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease.		601267	20673	2	2004	However, these findings must be cautiously interpreted as the overall significance was found without adjustment for multiple comparisons and is coming from the complete absence of the genotype 64I/64I in AD patients. Conversely, no different distribution of the CCR5Delta32 deletion in the two populations was shown. Stratifying by the presence of ApoE varepsilon4 allele, gender or age at onset, no differences in either allele frequencies were observed.	Control:222:controls;Case:290 Alzheimer's disease patients										
117640		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	6	6p23	ATXN1	16407321	16869700		Culjkovic, B.  et al. 2000	11121205				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		601556	24082	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
117641		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	22	22q13.31	ATXN10	44446350	44619493		Brusco, A.  et al. 2004	15148151				Ataxin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013236.2	Italian	Italy	CDC GDPinfo	25814	Hs.475125			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		603516	24083	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
117636		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias|Myoclonic Epilepsies, Progressive	6	6p23	ATXN1	16407321	16869700		Wu, Y.  et al. 2004	14756671				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2		Taiwan	CDC GDPinfo	6310	Hs.434961			Clinical genetics. 2004 Mar;65(3):209-14	Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8and SCA17 are associated with typical Parkinson's disease.		601556	20554	2	2004	This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.	Cohort normal subjects and patients with ataxia and Parkinson's disease 										
117637		carotid artery intima-media thickness; spinocerebellar ataxia; Huntington's disease; myotonic dystrophy	CARDIOVASCULAR	CARD		6	6p23	ATXN1	16407321	16869700		Popova, S. N.  et al. 2001	11781699				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			European journal of human genetics. 2001 Nov;9(11):829-35	Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.		601556	20555	2	2001	The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)(5) and (CTG)(11-14), but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied.	Cohort healthy unrelated individuals from nine East European populations (Russia, Ukrainia, and Belarussian) Cohort healthy unrelated individuals from the Caucasian population Adyg Cohort healthy unrelated individuals from the Siberian Yakut 										
117638		myotonic dystrophy type 1	OTHER	OTH	Spinocerebellar Ataxias	6	6p23	ATXN1	16407321	16869700		Savic, D.  et al. 2001	11807410				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		601556	20556	2	2001	Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions.	Control:133 healthy control subjects;Case:52 myotonic dystrophy type 1 patients;Control:68 patients with non-triplet neuromuscular diseases caused by point mutations, deletions or:duplications										
117633		HIV infection; dementia, AIDS	INFECTION	INF	HIV Infections|AIDS Dementia Complex	17	17q11.2-q21.1	CCL2	29606408	29608333		Gonzalez, E.  et al. 2002	12374865				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDPinfo	6347	Hs.303649			Proceedings of the National Academy of Sciences of the United States of America. 2002 Oct;99(21):13795-800	From the Cover: HIV-1 infection and AIDS dementiaare influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levels		158105	15633	2	2002	Our findings suggest that MCP-1 antagonists may be useful in HIV-1 infection, especially for HAD, and that HIV+ individuals possessing the MCP-1 -2578G allele may benefit from early initiation of antiretroviral drugs that effectively cross the blood-brain barrier. In a broader context, the MCP-1 -2578G allele may serve as a genetic determinant of outcome of other disease states in which MP-mediated tissue injury is central to disease pathogenesis.	Cohort large cohorts of HIV-1-infected adults and children 										
117634		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	6	6p23	ATXN1	16407321	16869700			16380905				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		601556	16992	2	2005												
117635		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	6	6p23	ATXN1	16407321	16869700		Brusco, A.  et al. 2004	15148151				ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2	Italian	Italy	CDC GDPinfo	6310	Hs.434961			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		601556	20553	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
117630		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	6	6p23	ATXN1	16407321	16869700		Kim, J. Y.  et al. 2001	11804332				ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2	Korean	Korea	CDC GDPinfo	6310	Hs.434961			Molecules and cells. 2001 Dec;12(3):336-41	Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1,SCA2, SCA3, SCA6, and SCA7		601556	15385	2	2001	This mutation spectrum is quite different from a previous report concerning Koreans, but is similar to the distributions that are seen in several ethnic populations worldwide. For a correct and effective diagnosis of SCAs, we suggest that a molecular diagnosis be undertaken, even in patients without a family history, as well as those with a family history. A stepwise approach is also recommended. Patients with ataxia should be tested for SCA2 and SCA3. Individuals testing negative should be tested for SCA1, SCA6, and SCA7.	Cohort 76 spincerebellar ataxic patients Korea 										
117631		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	6	6p23	ATXN1	16407321	16869700			16389595				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		601556	15386	2	2006												
117632	Y	depressive disorder, major; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	22	22q11	BCR	21852551	21990224		Hashimoto, R.  et al. 2005	15866548				Breakpoint cluster region	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004327.3			CDC GDPinfo	613	Hs.517461			Biological psychiatry. 2005 May;57(10):1097-102	The Breakpoint Cluster Region Gene on Chromosome 22q11 is Associated with Bipolar Disorder		151410	15412	2	2005	 Our results suggest that genetic variations in the BCR gene could confer susceptibility to bipolar disorder and major depressive disorder.	Case:171/329 patients with bipolar disorder (n = 171), major depressive disorder (n = 329);Control:351:controls										
117625	Y	schizophrenia	PSYCH	PSY	Spinocerebellar Degenerations|Bipolar Disorder|Schizophrenia	6	6p23	SCA1	16407321	16869700		Morris-Rosendahl DJ et al. 1997	9184318	CAG repeats			ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332		France	KGB	6310	Hs.434961			American journal of medical genetics. 1997 May;74(3):324-30	Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: tentative association between B37 and schizophrenia.		601556	5317	1	1997												
117626		schizophrenia	PSYCH	PSY	Spinocerebellar Degenerations	6	6p23	SCA1	16407321	16869700		Joo EJ et al. 1999	10335546				ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332			KGB	6310	Hs.434961			Psychiatric genetics. 1999 Mar;9(1):11-Jul	Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23.		601556	5318	1	1999												
117627		trinucleotide expansion disease	OTHER	OTH	Spinocerebellar Ataxias	6	6p23	SCA1	16407321	16869700		Savic D et al. 2001	11807410				ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332			KGB	6310	Hs.434961			Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		601556	5319	1	2001												
117628	N	spinocerebellar ataxia; Huntington's disease; myotonic dystrophy	NEUROLOGICAL	NEUR	Myotonic Dystrophy|Huntington Disease|Spinocerebellar Ataxias	6	6p23	ATXN1	16407321	16869700		Hellenbroich, Y.  et al. 2004	15167689				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDPinfo	6310	Hs.434961			Psychiatric genetics. 2004 Jun;14(2):61-3	No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3		601556	8848	2	2004	Our findings do not support the hypothesis that this allele is involved in the etiology of trinucleotide expansion.	Cohort 182/64/31 Huntington's disease (n=182), myotonic dystrophy type 1 (n=64) and SCA3 (n=31) patients 										
117622		myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3q22-q24	ATR	143650768	143780341		Olivieri, O.  et al. 2001	11393670				Ataxia telangiectasia and Rad3 related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001184.2			CDC GDPinfo	545	Hs.271791			Journal of hypertension. 2001 May;19(5):879-84	Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease.		601215	20551	2	2001	 AGT 235 T homozygous patients with multivessel CAD have an increased risk of myocardial infarction as compared with subjects with clinically similar phenotype but different genotype.	Control:245 Subjects with angiographically documented normal coronary arteries;Case:454 patients were candidates for coronary artery bypass grafting, having angiographically documented (mainly multi-vessel) CAD										
117623		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	3	3q22-q24	ATR	143650768	143780341		Zienolddiny, S.  et al. 2005	16195237				Ataxia telangiectasia and Rad3 related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001184.2			CDC GDPinfo	545	Hs.271791			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		601215	20552	2	2005												
117624		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	3	3q22-q24	ATR	143650768	143780341		Shlyakhto, E. V.  et al. 2001	11688760				Ataxia telangiectasia and Rad3 related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001184.2		Russia	CDC GDPinfo	545	Hs.271791			Blood pressure. 2001 ;10(3):135-41	Lack of association of the renin-angiotensin system genes polymorphisms and left ventricular hypertrophy in hypertension		601215	25857	2	2001	 In the light of these observations it seems reasonable to make a preliminary conclusion about lack of association between LVH and distinct polymorphisms of renin-angiotensin system genes in the population studied.	Cohort 156 patients (the mean age 49+/-8 years) with mild-to-moderate EH recruited from the general population of the outpatient clinic 										
117618		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631			16310588				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Chinese		CDC GDPinfo	540	Hs.492280			Brain & development. 2005 Dec;27(8):551-3	Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L		606882	15376	2	2005	We conclude that  the onset of WD in Chinese children is not related to ApoE epsilon3/3, although the high frequency of ApoE epsilon3/3 in Chinese Han children with WD was not significantly different from that in controls.											
117619	Y	greenland familial cholestasis	OTHER	OTH	Cholestasis	18	18q21-q22	ATP8B1	53464656	53550037		Klomp LW et al. 2000	11093741				ATPase, Class I, type 8B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005603.2		Greenland	KGB	5205	Hs.569910			Hepatology (Baltimore, Md). 2000 Dec;32(6):1337-41	A missense mutation in FIC1 is associated with greenland familial cholestasis.		602397	4936	1	2000												
117620	Y	cholestasis	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications	18	18q21-q22	ATP8B1	53464656	53550037		Mullenbach, R.  et al. 2005	15888793				ATPase, Class I, type 8B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005603.2			CDC GDPinfo	5205	Hs.569910			Gut. 2005 Jun;54(6):829-34	ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.		602397	15377	2	2005	 We were able to demonstrate ATP8B1 mutations in ICP. MRS studies suggest that susceptibility to ICP is associated with a relative rise in biliary phospholipid. These data also suggest that MRS may be used for non-invasive assessment of the liver and biliary constituents in cholestasis.	Control:120:controls;Case:182 intrahepatic cholestatis of pregnancy cases										
117615	Y	Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Stapelbroek, J. M.  et al. 2004	15519648	H1069Q			ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDPinfo	540	Hs.492280			Journal of hepatology. 2004 Nov;41(5):758-63	The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease:results of a meta-analysis.		606882	15373	2	2004	 Our results indicate that the H1069Q mutation is associated with a late and neurologic presentation.	Cohort 577 patients from those available from literature and combined with the current Dutch group Cohort 70 Dutch Wilson's disease patients the Netherlands 										
117616		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Vrabelova, S.  et al. 2005	15967699				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDPinfo	540	Hs.492280			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):277-85	Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.		606882	15374	2	2005												
117617		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration|Chromosome Aberrations	13	13q14.3	ATP7B	51404805	51483631		Gromadzka, G.  et al. 2005	16211609	H1069Q			ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDPinfo	540	Hs.492280			Movement disorders. 2005	p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.		606882	15375	2	2005												
117612	Y	Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Wu, Z. Y.  et al. 2003	12812649				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Chinese		CDC GDPinfo	540	Hs.492280			Zhonghua yi xue za zhi. 2003 Feb;83(4):309-11	[Genotype-phenotype correlation of patients with wilson disease in Chinese population]		606882	15370	2	2003	 The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. The Arg778Leu mutation is not a mild mutation. It has severe effects on the function of ATP7B.	Cohort 29 Wilson disease patients 										
117613		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Majumdar, R.  et al. 2003	14514926	4193delC			ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2		Saudi Arabia	CDC GDPinfo	540	Hs.492280			Molecular pathology. 2003 Oct;56(5):302-4	4193delC, a common mutation causing Wilson's disease in Saudi Arabia: rapid molecular screeningof patients and carriers.		606882	15371	2	2003	 This polymerase chain reaction based method, which has been known for years, is a simple, inexpensive, and rapid method for screening common and specific mutations in patients with WD and carriers.	Cohort 30 patients with Wilson's disease and their relatives 										
117614	Y	liver disease; Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Liu, X. Q.  et al. 2004	14966923				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Chinese		CDC GDPinfo	540	Hs.492280			World journal of gastroenterology. 2004 Feb;10(4):590-3	Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease		606882	15372	2	2004	 1384del17bp is a novel mutation found in WD patients. R778L is the most common mutation of ATP7B gene. There is a correlation between R778L and hepatic manifestations in WD patient.	Cohort 75 Chinese patients with Wilson disease from 72 no-kinship families 										
117609		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Wu, Z.  et al. 2000	11775208				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Chinese		CDC GDPinfo	540	Hs.492280			Chinese medical journal. 2000 Jan;113(1):40-3	Identification and analysis of mutations of the Wilson disease gene in Chinese population.		606882	15367	2	2000	 In Chinese, WD seems to result from two or three relatively common mutations and a large number of rare mutations. Arg778Leu and Thr935Met might be hotspots of mutation in Chinese population. The results indicated that the feature of mutations of WD gene is different between Chinese and the Western. Instead of exon 14 and exon 18, we had to select exon 8 and exon 12 first to detect mutations of WD gene in Chinese. It is of great importance to establish a direct diagnostic method for WD. This study improves our knowledge on functional domains of the WD gene, and helps elucidate the wide spectrum of manifestations of the disease as well.	Case:44 urelated Wilson disease patients;Control:60 unrelated normal Chinese										
117611	N	Wilson disease, fine motor symptoms in	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Hermann, W.  et al. 2002	12186999				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDPinfo	540	Hs.492280			European neurology. 2002 ;48(2):97-101	Genotype correlation with fine motor symptoms in patients with Wilson's disease		606882	15369	2	2002	The findings of this study indicated that no such link exists. Neither the profile of the impairment of the fine motor parameters nor the severity and frequency of pathological findings were different among the three genotype groups (homozygous for H1069Q, compound homozygous for H1069Q and other mutations). By contrast, fine motor disorders were found to correlate with the clinical symptoms recorded when therapy began. The pathophysiology of the basal ganglia and the cerebellar loop therefore cannot be directly attributed to the genotype of the mutation in the ATP7B gene.	Cohort 36 patients with Wilson's disease 										
117606		Wilson disease	METABOLIC	MET		13	13q14.3	ATP7B	51404805	51483631		Ren, M. S.  et al. 1998	11819316				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDPinfo	540	Hs.492280			World journal of gastroenterology. 1998 Aug;4(4):340-342	Copper-chelating therapeutic effect in Wilson disease with different clinical phenotypes and polymorphisms of ATP7B gene.		606882	8847	2	1998	Most WD patients are compound heterozygotes, the patients with different clinical phenotypes have different response to copper-chelating therapy. Specific mutation, at least in part, plays a role in influencing the disease phenotypes and therapeutic effect.	Cohort 122 Wilson disease patients 	copper-chelating tablet									
117607		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Caca, K.  et al. 2001	11690702	H1069Q			ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2		Germany	CDC GDPinfo	540	Hs.492280			Journal of hepatology. 2001 Nov;35(5):575-81	High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapiddetection of mutations by limited sequencing and phenotype-genotype analysis		606882	15365	2	2001	 In spite of many known ATP7B mutations, only few occur in this homogeneous population. Limited genetic testing is useful to confirm Wilson disease in this population.	Cohort 82 Wilson disease patients 										
117608		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Wu, Z.  et al. 1999	11715435				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Chinese		CDC GDPinfo	540	Hs.492280			Zhonghua yi xue za zhi. 1999 Jun;79(6):422-4	Another hot point mutation of Wilson disease gene in Chinese: exon 12		606882	15366	2	1999	 The finding helps establish a fast and effective direct gene diagnosis.	Case:44 unrelated Chinese Wilson disease patients;Control:60 normal controls										
117603	Y	arylsulfatase A pseudodeficiency	OTHER	OTH	Hepatolenticular Degeneration|Cerebellar Ataxia	13	13q14.3	ATP7B	51404805	51483631		Battisti C et al. 1999	10406672				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			KGB	540	Hs.492280			American journal of medical genetics. 1999 Jul;85(2):175-8	Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.		606882	921	1	1999												
117604	Y	Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Liu XQ 2004	14966923				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			KGB	540	Hs.492280			World journal of gastroenterology. 2004 Feb;10(4):590-3	Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.		606882	922	1	2004	 1384del17bp is a novel mutation found in WD patients. R778L is the most common mutation of ATP7B gene. There is a correlation between R778L and hepatic manifestations in WD patient.	Cohort 75 Chinese patients with Wilson disease from 72 no-kinship families										
117605		Wilson disease	OTHER	OTH	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Deguti MM 2004	15024742				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	European	Brazil	KGB	540	Hs.492280			Human mutation. 2004 Apr;23(4):398	Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.		606882	923	1	2004												
117600	N	bipolar disorder	PSYCH	PSY	Keratosis Follicularis|Genetic Predisposition to Disease|Bipolar Disorder	12	12q23-q24.1	ATP2A2	109203814	109273280		Jacobsen, N. J.  et al. 2001	11244492				ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170665.2			CDC GDPinfo	488	Hs.506759			Molecular psychiatry. 2001 Jan;6(1):92-7	Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder		108740	15363	2	2001	Analysis of allele and genotype distributions for all six variations, and of haplotype frequencies showed no evidence for the involvement of ATP2A2 in producing susceptibility to bipolar disorder.	Case:324 bipolar patients;Control:327 unspecified controls										
117601		spinocerebellar ataxia type 1	NEUROLOGICAL	NEUR		6	6p21.3	ATP6G	31620218	31622606		Zuhlke, C.  et al. 2002	11973625				ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130463			CDC GDPinfo	534	Hs.249227			European journal of human genetics. 2002 Mar;10(3):204-9	Spinocerebellar ataxia type 1 (SCA1):Phenotype-genotype correlation studies in intermediate alleles		601556	15380	2	2002	The clinical features of individuals carrying 39 uninterrupted CAG repeats did not differ from the SCA1 phenotype in general with dysphagia, pale discs, pyramidal signs and cerebellar tremor being more frequent as compared to other SCA genotypes. In contrast, the interrupted 39 trinucleotide-allele is not correlated with the SCA1 phenotype.	Cohort 15 individuals with alleles ranging from 36 and 41 triplets 										
117602	Y	Wilson disease	OTHER	OTH	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Houwen RH et al. 1995	7666402				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			KGB	540	Hs.492280			Journal of medical genetics. 1995 Jun;32(6):480-2	H714Q mutation in Wilson disease is associated with late neurological presentation.		606882	920	1	1995												
117597	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	1	1q21-q23	ATP1A2	158352171	158379998		Lohoff, F. W.  et al. 2005	15911117				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2		Germany	CDC GDPinfo	477	Hs.34114			Neuroscience letters. 2005 Jul;382(2-Jan):33-8	No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy.		182340	17912	2	2005	Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE.	Control:111 healthy German controls;Case:152 idiopathic generalized epilepsy patients of German:ancestry										
117599	Y	Darier's disease	OTHER	OTH	Keratosis Follicularis	12	12q23-q24.1	ATP2A2	109203814	109273280		Ruiz-Perez VL et al. 1999	10441324				ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170665.2		Europe	KGB	488	Hs.506759			Human molecular genetics. 1999 Sep;8(9):1621-30	ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations but neuropsychiatric features are independent of mutation class.		108740	919	1	1999												
117594	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	1	1q21-q23	ATP1A2	158352171	158379998	n	Buono RJ et al. 2000	10686557				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2			KGB	477	Hs.34114			American journal of medical genetics. 2000 Feb;96(1):79-83	Lack of association between temporal lobe epilepsy and a novel polymorphism in the alpha 2 subunit gene (ATP1A2) of the sodium potassium transporting ATPase.		182340	916	1	2000												
117595	Y	familial hemiplegic migraine and benign familial infantile convulsions	OTHER	OTH	Epilepsy, Benign Neonatal|Migraine with Aura	1	1q21-q23	ATP1A2	158352171	158379998		Vanmolkot KR 2003	12953268				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2			KGB	477	Hs.34114			Annals of neurology. 2003 Sep;54(3):360-6	Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.		182340	917	1	2003												
117596		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q21-q23	ATP1A2	158352171	158379998		Glenn, B. S.  et al. 2001	11257061				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2		New Jersey	CDC GDPinfo	477	Hs.34114			American journal of epidemiology. 2001 Mar;153(6):537-45	Relation of alleles of the sodium-potassium adenosine triphosphatase alpha 2 gene with blood pressure and lead exposure.		182340	8846	2	2001	The association between blood lead and blood pressure was stronger among persons who were homozygous for the variant allele. Genotype was also associated with hypertension (adjusted odds	Cohort 220 former organolead manufacturing workers from New Jersey 										
117591	N	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q32	ATF2	175647251	175741143		Jonsson, E.  et al. 2002	12270648				Activating transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001880.2	Swedish		CDC GDPinfo	1386	Hs.592510			Neuroscience letters. 2002 Sep;330(3):290-2	No association between a transcription factor Activating Protein 2beta (AP-2beta) gene variant and schizophrenia.		123811	15343	2	2002	We conclude that  the investigated AP-2beta variant is not of major importance to schizophrenia in the investigated Swedish population.	Case:135 schizophrenic patients;Control:382 control subjects										
117592	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Dervieux, T.  et al. 2004	15457444				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDPinfo	471	Hs.90280			Arthritis and rheumatism. 2004 Sep;50(9):2766-74	Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.		601731	14563	2	2004	 These data suggest that measuring RBC MTXPG levels and/or the common polymorphisms in the folate-purine-pyrimidine pathway may help in monitoring MTX therapy.	Cohort patients with rheumatoid arthritis 	methotrexate									
117593	Y	methotrexate efficacy	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Dervieux, T.  et al. 2005	15677700				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDPinfo	471	Hs.90280			Annals of the rheumatic diseases. 2005 Aug;64(8):1180-5	Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate:results of a multicentred cross sectional observational study.		601731	20049	2	2005	 Pharmacogenetic and metabolite measurements may be useful in optimising MTX treatment. Prospective studies are warranted to investigate the predictive value of these markers for MTX efficacy.											
117588	Y	skin color	UNKNOWN	UNK		20	20q11.2-q12	ASIP	32311831	32320809		Bonilla, C.  et al. 2005	15726415	8818G			Agouti signaling protein, nonagouti homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001672.2	African American		CDC GDPinfo	434	Hs.432400			Human genetics. 2005 Apr;116(5):402-6	The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.		600201	12332	2	2005	Our study suggests that the ASIP G>A polymorphism exhibits a dominant effect leading to lighter skin color and that variation in the ASIP gene may have been one of several factors contributing to reductions in pigmentation in some populations. Further study is needed to reveal how interactions between ASIP and several other genes, such as MC1R and P, predict human pigmentation.	Cohort 234 Arican Americans 										
117589		Canavan disease	NEUROLOGICAL	NEUR	Canavan Disease	17	17pter-p13	ASPA	3326045	3349450		Feigenbaum, A.  et al. 2004	14699612				Aspartoacylase (Canavan disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000049.2			CDC GDPinfo	443	Hs.171142			American journal of medical genetics Part A. 2004 Jan;124(2):142-7	Canavan disease: Carrier-frequency determination inthe Ashkenazi Jewish population and development of a novel molecular diagnostic assay		608034	15341	2	2004	Twenty-five carriers were found from 1,423 samples	Cohort 1,423 Ashkenazi Jewish individuals Toronto 										
117590		osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Osteoarthritis, Knee|Genetic Predisposition to Disease	9	9q22	ASPN	94258309	94284609		Mustafa, Z.  et al. 2005	16255042				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Caucasian	Great Britain	CDC GDPinfo	54829	Hs.435655			Arthritis and rheumatism. 2005 Nov;52(11):3502-6	Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population.		608135	15342	2	2005	 Our data suggest that the asporin polymorphism is not a major influence on OA etiology in Caucasians. The results of our study do not question the veracity of the Japanese report. Instead, our study highlights the complex, heterogeneous nature of OA genetic susceptibility.											
117585	Y	pigmentation	OTHER	OTH	Melanoma|Genetic Predisposition to Disease	20	20q11.2-q12	ASIP	32311831	32320809		Kanetsky PA et al. 2002	11833005				Agouti signaling protein, nonagouti homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001672.2			KGB	434	Hs.432400			American journal of human genetics. 2002 Mar;70(3):770-5	A polymorphism in the agouti signaling protein gene is associated with human pigmentation.		600201	910	1	2002	This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk.	Control:147 healthy controls;Case:746 melanoma susceptible individuals										
117586	Y	melanoma; pigmentation	OTHER	OTH	Melanoma|Genetic Predisposition to Disease	20	20q11.2-q12	ASIP	32311831	32320809		Kanetsky, P. A.  et al. 2002	11833005				Agouti signaling protein, nonagouti homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001672.2			CDC GDPinfo	434	Hs.432400			American journal of human genetics. 2002 Mar;70(3):770-5	A polymorphism in the agouti signaling protein gene is associated with human pigmentation.		600201	8839	2	2002	This is the first report of an association of ASIP with specific human pigmentation characteristics. It remains to be investigated whether the interaction of MC1R and ASIP can enhance prediction of human pigmentation and melanoma risk.	Control:147 healthy controls;Case:746 melanoma susceptible individuals										
117587		melanoma; pigmentation	CANCER	CAN		20	20q11.2-q12	ASIP	32311831	32320809		Zeigler-Johnson, C.  et al. 2004	15016309				Agouti signaling protein, nonagouti homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001672.2	European		CDC GDPinfo	434	Hs.432400			Pigment cell research. 2004 Apr;17(2):185-7	Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism.		600201	8840	2	2004	Although the effect of the g.8818A>G polymorphism upon ASIP function is unknown, the large difference in allele frequency between our West African and European-American sample populations lends support to the notion that this gene may be important in human pigmentation.	Cohort 25/86/207 25 East Asian, 86 African-American, and 207 West African individuals 										
117582		arsenic metabolism	PHARMACOGENOMIC	PHARM		10	10q24.32	AS3MT	104604008	104651645		Meza, M. M.  et al. 2005	15929903				Arsenic (+3 oxidation state) methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020682.3			CDC GDPinfo	57412	Hs.123461			Environmental health perspectives. 2005 Jun;113(6):775-81	Developmentally restricted genetic determinants of human arsenic metabolism: association betweenurinary methylated arsenic and CYT19 polymorphisms in children.			15339	2	2005	The existence of a strong, developmentally regulated genetic association between CYT19 and arsenic metabolism carries import for both arsenic pharmacogenetics and arsenic toxicology, as well as for public health and governmental regulatory officials.	Cohort 135 arsenic-exposed subjects Sonora, Mexico 										
117583		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	12	12q22-q23	ASCL1	101875593	101878419		Ide, M.  et al. 2005	16021468				Achaete-scute complex-like 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004316.2			CDC GDPinfo	429	Hs.524672			Human genetics. 2005 Oct;117(6):520-7	Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence forassociation of ASCL1 with Parkinson's disease.		100790	15340	2	2005												
117584		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	12	12q22-q23	ASCL1	101875593	101878419		Weese-Mayer, D. E.  et al. 2004	15240857				Achaete-scute complex-like 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004316.2			CDC GDPinfo	429	Hs.524672			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		100790	19889	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
117578		metachromatic leukodystrophy	OTHER	OTH	Leukodystrophy, Metachromatic	22	22q13.31-qter	ARSA	49410314	49413453		Lugowska, A.  et al. 2005	16140556	c.459+1G>A and p.P426L			Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3		Europe	CDC GDPinfo	410	Hs.88251			Molecular genetics and metabolism. 2005 Nov;86(3):353-9	Mutations c.459+1G>A and p.P426L in the ARSA gene:prevalence in metachromatic leukodystrophy patients from European countries.		607574	15336	2	2005												
117580		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q15	ARTS-1	96122269	96297269		Yamamoto N et al. 2002	11857741				type 1 tumor necrosis factor receptor shedding aminopeptidase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB011097			KGB	51752	Hs.436186			Human mutation. 2002 Mar;19(3):251-7	Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension.		606832	6767	1	2002												
117581	N	mental disorder	DEVELOPMENTAL	DEV		X	Xp22.1-p21.3	ARX	24932212	24943775		Gronskov, K.  et al. 2004	15199382				Aristaless related homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139058.1			CDC GDPinfo	170302	Hs.300304			European journal of human genetics. 2004 Sep;12(9):701-5	Screening of the ARX gene in 682 retarded males.		300382	15337	2	2004	We find that previously described polyalanine expansions of ARX are not a common cause of mental retardation.	Cohort 682 devlopmentally retarded males 										
117575	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	22	22q13.31-qter	ARSA	49410314	49413453		Chung, I.  et al. 2002	11857580				Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3	Korean	Korea	CDC GDPinfo	410	Hs.88251			American journal of medical genetics. 2002 Mar;114(2):186-9	Evidence for an N-glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans.		607574	8838	2	2002	This result provides evidence that the ASA pseudodeficient N-glycosylation site allele increases the risk of alcohol dependence within a Korean population.	Control not specified in abstract;Case:123 alcoholic patients:Korea										
117576		Alzheimer's disease; Down syndrome	NEUROLOGICAL	NEUR	Alzheimer Disease|Down Syndrome	22	22q13.31-qter	ARSA	49410314	49413453		Bognar, S. K.  et al. 2002	12459318				Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3		Croatia	CDC GDPinfo	410	Hs.88251			Archives of medical research. 2002 Sep-Oct;33(5):473-7	Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.		607574	15334	2	2002	 Frequency of two mutations associated with ASA pseudodeficiency in the Croatian population is slightly below the range reported for other populations. Additionally, despite the proposed role of arylsulfatase A pseudodeficiency as one of the predisposing factors for neuropsychiatric disorders, our preliminary results did not show significantly higher frequencies of either mutation in Alzheimer-type dementia or Down syndrome.	Control:125 healthy subjects;Case:18/21 patients with Alzheimer-type dementia (n=18) and Down syndrome (n=21)										
117577		lead toxicity	METABOLIC	MET	Lead Poisoning|Alcoholism	22	22q13.31-qter	ARSA	49410314	49413453		Long, J.  et al. 2002	12473917				Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3	African American		CDC GDPinfo	410	Hs.88251			AACN clinical issues. 2002 Nov;13(MedlineTA => AACN Cl):550-6	Allelic variation and environmental lead exposure in urban children		607574	15335	2	2002	In this corollary study of 107 children, part of a parent study on the behavior of African American children prenatally exposed to cocaine, 45% were found to be heterozygous, 11% mutant homozygous, and 44% normal in terms of ASA allele or alleles. Further studies on neurodeficiencies, low-level exposure to environmental toxins, and allelic variations must be conducted before a relation between ASA allelic variance and environmental lead can be determined.	Cohort 107 children prenatally exposed to cocaine 										
117571		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Confusion|Pain, Intractable|Nausea	17	17p13	ARRB2	4560537	4571544		Ross, J. R.  et al. 2005	16103897				Arrestin, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004313.3			CDC GDPinfo	409	Hs.435811			The pharmacogenomics journal. 2005 ;5(5):324-36	Clinical response to morphine in cancer patients and genetic variation in candidate genes.		107941	20123	2	2005												
117572	Y	metachromatic leukodystrophy	OTHER	OTH	Leukodystrophy, Metachromatic	22	22q13.31-qter	ARSA	49410314	49413453		Coulter-Mackie MB et al. 1998	9452102	juvenile (R390Q) and adult onset (H397Y)			Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3			KGB	410	Hs.88251			Human mutation. 1998 ;Suppl 1:S254-6	Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.		607574	907	1	1998												
117573		arylsulphatase A pseudodeficiency	METABOLIC	MET	Leukodystrophy, Metachromatic	22	22q13.31-qter	ARSA	49410314	49413453		Barth ML et al. 1994	7815433				Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3	healthy		KGB	410	Hs.88251			Journal of medical genetics. 1994 Sep;31(9):667-71	Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.		607574	908	1	1994												
117574		normal nerve conduction	OTHER	OTH	Leukodystrophy, Metachromatic|Dementia|Disease Progression	22	22q13.31-qter	ARSA	49410314	49413453		Gallo S 2004	15026521				Arylsulfatase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000487.3			KGB	410	Hs.88251			Journal of neurology, neurosurgery, and psychiatry. 2004 Apr;75(4):655-7	Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.		607574	909	1	2004												
117568		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1q21	ARNT	149048809	149115810			16364012				Aryl hydrocarbon receptor nuclear translocator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001668.2			CDC GDPinfo	405	Hs.632446			American journal of reproductive immunology (New York, NY :  1989). 2006 Jan;55(1):51-3	The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage		126110	8837	2	2006	 In our cohort of patients, the polymorphism in codon 511 of the ARNT gene is not associated with RM.											
117569		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1q21	ARNT	149048809	149115810		Tsuchiya, M.  et al. 2005	16084889				Aryl hydrocarbon receptor nuclear translocator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001668.2			CDC GDPinfo	405	Hs.632446			Fertility and sterility. 2005 Aug;84(2):454-8	Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution toendometriosis susceptibility and severity.		126110	20546	2	2005	 AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.											
117570	N	endometriosis	REPRODUCTION	REP	Endometriosis	1	1q21	ARNT	149048809	149115810		Watanabe, T.  et al. 2001	11393538				Aryl hydrocarbon receptor nuclear translocator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001668.2			CDC GDPinfo	405	Hs.632446			Journal of human genetics. 2001 ;46(6):342-6	Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis ofpolymorphism in endometriosis.		126110	20547	2	2001	No association was found between uterine endometriosis and any polymorphisms in the AHRR, AHR, ARNT, or CYP1A1 genes analyzed in the present study.	Cohort 108 healthy women Japan 										
117564	N	cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	1	1p36-p35	ARH	25742752	25767964		Hubacek, J. A.  et al. 2004	15497461				Low density lipoprotein receptor adaptor protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK024397			CDC GDPinfo	26119	Hs.184482			Clinical chemistry and laboratory medicine. 2004 ;42(9):989-90	ARH missense polymorphisms and plasma cholesterol levels		605747	8833	2	2004	These results suggest that ARH polymorphisms are unlikely to be important genetic determinants of plasma cholesterol levels.	Case:100 Caucasian males with high (>90%, 6.29 +/- 0.89 mmol/l) total plasma cholesterol levels;Control:100 Caucasian males with low (<10%, 3.60 +/- 0.57 mmol/l) total plasma cholesterol levels										
117565	Y	cancer	CANCER	CAN	Neoplasms|Pancytopenia|Chromosome Deletion	13	13q14.2	ARL11	49100624	49105732		Calin, G. A.  et al. 2005	15843669				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDPinfo	115761	Hs.558599			The New England journal of medicine. 2005 Apr;352(16):1667-76	Familial cancer associated with a polymorphism in ARLTS1.		609351	8834	2	2005	 A genetic variant of ARLTS1 predisposes patients to familial cancer.	Case:109 patients with familial cancer or multiple cancers;Control:475 healthy people or people with diseases other than:cancer										
117566		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732			16353159	Cys148Arg			ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDPinfo	115761	Hs.558599			International journal of cancer Journal international du cancer. 2005	Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk		609351	15332	2	2005												
117561		prostate-specific antigen levels	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Xu, J.  et al. 2002	12101115				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):664-9	Association studies of serum prostate-specific antigen levels and the genetic polymorphisms at the androgen receptor and prostate-specific antigen genes.		313700	20543	2	2002	We hypothesize that the effects of ARE1 and AR genotypes on mean PSA levels may reflect the effect of other causal polymorphisms in these genes, which are in linkage disequilibrium with these polymorphisms. A systematic approach is required to identify sequence variants in these genes and other related genes, and to test for an association between these variants and PSA levels in large samples.	Cohort 518 men 										
117562		sleep disorders; schizophrenia; body mass	OTHER	OTH		X	Xq28	ARD1A	152848570	152853662		Sekine, A.  et al. 2001	11393533				ARD1 homolog A, N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003491.2	Japanese		CDC GDPinfo	8260	Hs.433291			Journal of human genetics. 2001 ;46(6):314-9	Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.		300013	20544	2	2001	Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.	Cohort 48 healthy Japanese volunteers 										
117563		asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity	6	6q23	ARG1	131936057	131947161			16387594				Arginase, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000045.2			CDC GDPinfo	383	Hs.440934			The Journal of allergy and clinical immunology. 2006 Jan;117(1):119-26	Genetic polymorphisms in arginase I and II and childhood asthma and atopy		608313	8832	2	2006	 Variation in arginase genes may contribute to asthma and atopy in children.		smoke (tobacco), passive									
117558		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Comings, D. E.  et al. 2003	12712467				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		313700	18012	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
117559		retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 2	X	Xq11.2-q12	AR	66680598	66860844		Radha, V.  et al. 2002	12090088				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		313700	20541	2	2002	Review article											
117560		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Klotsman, M.  et al. 2004	15136785				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The pharmacogenomics journal. 2004 ;4(4):251-9	A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH.		313700	20542	2	2004	The process(es) in which these silent single-nucleotide polymorphisms (SNPs) influence BPH phenotypes is unknown and additional studies will be needed to assess whether these SNPs have direct functional consequences. The characterization of additional molecular factors that contribute to static and dynamic obstruction may help predict response to pharmacotherapy and serve to identify novel drug targets for the clinical management of BPH.	Cohort men with a clinical diagnosis of benign prostatic hyperplasia 										
117555		breast cancer	CANCER	CAN	Breast Neoplasms	X	Xq11.2-q12	AR	66680598	66860844			16317584				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Breast cancer research and treatment. 2005	Microsatellite profile in hormonal receptor genes associated with breast cancer		313700	16555	2	2005												
117556		colon cancer; rectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Slattery ML, et al.Cancer Epidemiol Biomarkers Pr	16365013				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Cancer epidemiology, biomarkers & prevention. 2005	Associations between ERalpha, ERbeta, and AR genotypes and colon and rectal cancer		313700	16557	2	2005	Our results suggest that the ERbeta gene is more important than ERalpha in the etiology of colorectal cancer.		hormone replacement therapy									
117557		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	X	Xq11.2-q12	AR	66680598	66860844		Culjkovic, B.  et al. 2000	11121205				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		313700	16780	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
117552		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent	X	Xq11.2-q12	AR	66680598	66860844		Latil, A. G.  et al. 2001	11571725				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	French		CDC GDPinfo	367	Hs.496240			Cancer. 2001 Sep;92(5):1130-7	Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways.		313700	15990	2	2001	 The association between the 171-bp allele of CYP19 and prostate carcinoma risk suggests that aromatase could be used as a new indicator for prostate carcinoma prevention in men of White French ethnogeographic origin. Conversely, it is possible that an individual carries both a high- and a low-risk marker (e.g., CYP17 A2 allele and V89L in SRD5A2) resulting in no overall difference in risk observed across the population. For these reasons, the development of a polygenic model, incorporating multiple loci from the individual genes may maximize the chance of identifying individuals with high-risk genotypes.	Control:156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort;Case:226 proatate cancer patients										
117554		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Azzouzi, A. R.  et al. 2002	12370109				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			European journal of endocrinology. 2002 Oct;147(4):479-84	Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate.		313700	15992	2	2002	 These results suggested that common variants of the CYP17 gene are associated with prostate enlargement and therefore may increase the risk of development of BPH in this population, while infrequent variants of the aromatase gene (CYP19) could be of a protective nature.	Cohort 195 French Caucasians 										
117549		hypospadias	DEVELOPMENTAL	DEV		X	Xq11.2-q12	AR	66680598	66860844		Li, Q.  et al. 2004	15835798				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Zhonghua zheng xing wai ke za zhi. 2004 Nov;20(6):421-4	[Study of genic mutations of androgen receptor in hypospadias]		313700	15331	2	2004	 The rate of exon 2-7 mutations of the androgen receptor was 4.3%. The mutations were concentrated on ligand binding domain(exon 4-7), and the main phenotypes were hypospadias accompanying with micropenis found in our experimental group.	Case:92 patients with hypospadias were selected for the AR gene study (penile 33, scrotal 49, perineal 10; cryptorchidism 15, micropenis 34, indirect hernia 3, augmentation of breast 2, other deformities 8; posses family history 23);Control:93 healthy men as controls										
117550		breast cancer	CANCER	CAN	Breast Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Goode, E. L.  et al. 2002	12036913				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		313700	15481	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
117546	Y	hypospadias	DEVELOPMENTAL	DEV	Hypospadias	X	Xq11.2-q12	AR	66680598	66860844		Wang, Y.  et al. 2004	15266301				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Chinese	China	CDC GDPinfo	367	Hs.496240			European journal of human genetics. 2004 Sep;12(9):706-12	Mutation analysis of five candidate genes in Chinese patients with hypospadias.		313700	15328	2	2004	In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.	Control:controls;Case:90 Chinese hypospadias patients										
117547		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Gilligan, T.  et al. 2004	15479493				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	African American	United States	CDC GDPinfo	367	Hs.496240			Clinical prostate cancer. 2004 Sep;3(2):98-103	Absence of a correlation of androgen receptor gene CAG repeat length and prostate cancer risk in an African-American population.		313700	15329	2	2004	This study confirms earlier reports that black men have shorter CAG repeat lengths than reported white and Asian populations. We did not find an increased risk of prostate cancer among black men with fewer CAG repeats.	Case:118 Black prostate cancer cases participating in prostate cancer screening Louisiana, South Carolina and District of Columbia;Control:567 screened Black males who had normal serum prostate-specific antigen levels and no evidence of cancer on digital rectal examination										
117548		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Colson, N. J.  et al. 2005	15654614				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Neurogenetics. 2005 Feb;6(1):17-23	Investigation of hormone receptor genes in migraine.		313700	15330	2	2005				PROGINS		ESR1	594A			Y		migraine
117543	N	testicular cancer	CANCER	CAN	Germinoma|Testicular Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Rajpert-De Meyts, E.  et al. 2002	12385020				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Danish		CDC GDPinfo	367	Hs.496240			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):201-4	Analysis of the polymorphic CAG repeat length in the androgen receptor gene in patients with testicular germ cell cancer.		313700	15324	2	2002	We conclude that  the high risk of testicular germ cell cancer in the Danish population is not associated with the (CAG)n polymorphism in the AR gene.	Case:102 patients diagnosed with testicular germ cell:neoplasia:Denmark;Control:110 healthy men with proven fertility										
117544	Y	prostate specific antigen	NORMALVARIATION	NV	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Giwercman, Y. L.  et al. 2004	15042597				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Prostate. 2004 May;59(3):227-33	Androgen receptor CAG repeat length correlates with semen PSA levels in adolescence		313700	15325	2	2004	 In adolescence, AR genotype, but not serum testosterone, is associated with the level of seminal PSA.	Cohort 274 military conscripts 										
117545	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Liu, J. H.  et al. 2004	15061984				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Chinese	China	CDC GDPinfo	367	Hs.496240			Zhonghua yi xue za zhi. 2004 Mar;84(5):364-8	[Genetic risk factors of prostate cancer in Han nationality population in Northern China and a preliminary study of the reason of racial difference in prevalence of prostate cancer]		313700	15326	2	2004	 There is a significant association between the AR gene CAG polymorphisms and PCa in the Han nationality population in Northern China. The distributions of the genotypes of AR, SRD5A2 and VDR gene are different among different ethnic population, which may be one of the reasons causing the racial difference in prostate cancer risk.	Case:116 Chinese Han patients with prostate cancer Northern China;Control:190 normal male controls										
117540		bone density	NORMALVARIATION	NV		X	Xq11.2-q12	AR	66680598	66860844		Willing, M. C.  et al. 2003	12879219				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		313700	14713	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
117541		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Ribeiro, M. L.  et al. 2002	11847524				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Brazil	CDC GDPinfo	367	Hs.496240			Brazilian journal of medical and biological research. 2002 Feb;35(2):205-13	Allelic frequencies of six polymorphic markers for risk of prostate cancer.		313700	15321	2	2002	When both repeat lengths are considered jointly, this Brazilian population is remarkably different from the others. Further studies on prostate cancer patients need to be conducted to assess the significance of these markers in the Brazilian population.	Cohort 200 individuals from two cities in the State of Sao Paulo Brazil 										
117542		osteoporosis	METABOLIC	MET	Osteoporosis	X	Xq11.2-q12	AR	66680598	66860844		Gennari, L.  et al. 2002	12127038				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Journal of steroid biochemistry and molecular biology. 2002 May;81(1):24-Jan	Genetics of osteoporosis: role of steroid hormonereceptor gene polymorphisms.		313700	15323	2	2002	Review article											
117537		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Guo, S. W.   2005	16244490				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Gynecologic and obstetric investigation. 2005 Oct;61(2):90-105	Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis.		313700	9773	2	2005												
117538	Y	androgen levels	OTHER	OTH		X	Xq11.2-q12	AR	66680598	66860844		Westberg, L.  et al. 2001	11397855				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2562-8	Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women.		313700	10413	2	2001	Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ERbeta gene, respectively.	Cohort 270 women from a population based cohort 										
117539	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	X	Xq11.2-q12	AR	66680598	66860844		Fytili, P.  et al. 2005	16098017				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Clinical genetics. 2005 Sep;68(3):268-77	Association of repeat polymorphisms in the estrogen receptors alpha, beta, and androgen receptor genes with knee osteoarthritis.		313700	10432	2	2005												
117534		breast cancer	CANCER	CAN	Breast Neoplasms	X	Xq11.2-q12	AR	66680598	66860844			16365023				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	African American		CDC GDPinfo	367	Hs.496240			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2990-4	Androgen receptor and prostate-specific antigen gene polymorphisms and breast cancer in African-American women		313700	8830	2	2005			family history									
117535		breast cancer	CANCER	CAN		X	Xq11.2-q12	AR	66680598	66860844			16365681				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Journal of human genetics. 2006 ;51(2):129-36	Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and populationrelationships		313700	8831	2	2005												
117536		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Haiman, C. A.  et al. 2003	12602902				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		313700	9752	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
117531	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Forrest, M. S.  et al. 2005	15711606				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Great Britain	CDC GDPinfo	367	Hs.496240			Prostate cancer and prostatic diseases. 2005 ;8(1):95-102	Association between hormonal genetic polymorphisms and early-onset prostate cancer.		313700	8827	2	2005	These findings suggest that common polymorphisms in the AR and SRD5A2 genes may be associated with early-onset CaP in British men.Prostate Cancer and Prostatic Diseases advance online publication, 15	Case:288/50 UK males diagnosed with prostate cancer diagnosed at the age of 55 y or younger (n=288) and and additional group (n=50) of cases not selected for:age:UK;Control:700/76 population-based controls (n=700) and controls not selected by age (n=76)										
117532	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Rodriguez, G.  et al. 2005	16187285				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			International journal of cancer. Journal international du cancer. 2006 Mar;118(6):1420-5	Alleles with short CAG and GGN repeats in the androgen receptor gene are associated with benign endometrial cancer.		313700	8828	2	2005												
117533		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Esteban, E.  et al. 2005	16254899				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Mediterranean Region	CDC GDPinfo	367	Hs.496240			American journal of human biology. 2005 Nov-Dec;17(6):690-5	An unexpected wide population variation of the G1733A polymorphism of the androgen receptor gene:data on the Mediterranean region.		313700	8829	2	2005												
117528	Y	bone mass; osteoporotic fractures	METABOLIC	MET	Osteoporosis|Spinal Diseases|Spinal Fractures|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Langdahl, B. L.  et al. 2003	14667136				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Calcified tissue international. 2003 Sep;73(3):237-43	A CAG repeat polymorphism in the androgen receptor gene is associated with reduced bone mass and increased risk of osteoporotic fractures.		313700	8824	2	2003	In conclusion, we have demonstrated that the CAG repeat polymorphism in the first exon of the AR gene is associated with reduced bone mass and increased risk of osteoporotic fractures in women.	Case:284 osteoporotic patients with vertebral fractures;Control:327 normal individuals										
117529		micropenis	DEVELOPMENTAL	DEV		X	Xq11.2-q12	AR	66680598	66860844		Ishii, T.  et al. 2004	15201804				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Journal of urology. 2004 Jul;172(1):319-24	Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis		313700	8825	2	2004	 Our results suggest that administration of 25 mg TE is effective for micropenis in prepubertal boys with no SRD5A2 or AR mutation, with variable but significant PL increments, and that the penile responsiveness to TE therapy is independent of the V89L and the CAG repeat length polymorphisms.	Cohort 53 Japanese boys with micropenis (less than -2.0 SD) 0 to 13 years old who had no SRD5A2 or AR mutation 	testosterone enanthate									
117530	Y	body mass	METABOLIC	MET		X	Xq11.2-q12	AR	66680598	66860844		Walsh, S.  et al. 2004	15377647				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Journal of applied physiology (Bethesda, Md :  1985). 2005 Jan;98(1):132-7	Androgen receptor CAG repeat polymorphism is associated with fat-free mass in men.		313700	8826	2	2004	In conclusion, the androgen receptor CAG repeat polymorphism is associated with FFM in men in two independent cohorts. Additional studies are needed to confirm this observation and to clarify the mechanisms involved.	Cohort 294/202 Caucasian males aged 55-93 years from the Study of Osteoporotic Risk in Men (STORM) and 202 Caucasian volunteers (112 men and 90 women) aged 19-90 years from the Baltimore Longitudinal Study of Aging (BLSA) 										
117525	Y	bone mass; osteoporotic fractures	METABOLIC	MET	Osteoporosis|Spinal Diseases|Spinal Fractures|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Langdahl, B. L.  et al. 2003	14667136				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Calcified tissue international. 2003 Sep;73(3):237-43	A CAG Repeat Polymorphism in the Androgen Receptor Gene is Associated with Reduced Bone Mass and Increased Risk of Osteoporotic Fractures		313700	8821	2	2003	In conclusion, we have demonstrated that the CAG repeat polymorphism in the first exon of the AR gene is associated with reduced bone mass and increased risk of osteoporotic fractures in women.	Case:284 osteoporotic patients with vertebral fractures;Control:327 normal individuals										
117526	Y	memory impairment	AGING	AGE	Cognition Disorders	X	Xq11.2-q12	AR	66680598	66860844		Yaffe, K.  et al. 2003	14573323				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Biological psychiatry. 2003 Nov;54(9):943-6	Androgen receptor CAG repeat polymorphism is associated with cognitive function in older men.		313700	8822	2	2003	 Research should be directed at identifying the mechanism for this association and to determine if treatment with testosterone prevents cognitive decline.	Cohort 301 community-dwelling white men (mean age, 73.0 +-/- 7.1 										
117527	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Santos, M. L.  et al. 2003	14585317				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Brazil	CDC GDPinfo	367	Hs.496240			Cancer detection and prevention. 2003 ;27(5):321-6	Androgen receptor CAG repeat polymorphism in prostate cancer from a Brazilian population.		313700	8823	2	2003	This study is the first to investigate the association between the AR CAG repeat polymorphism and the relative risk of prostate cancer in the Brazilian population.	Case:133 prostate cancer patients:Brazil;Control:279 healthy men controls										
117522	Y	retinopathy, diabetic; nephropathy in other diseases	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Disease Progression|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Yamamoto, T.  et al. 2003	12542725				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Japanese		CDC GDPinfo	367	Hs.496240			Diabetes, obesity & metabolism. 2003 Jan;5(1):51-7	Aldose reductase gene polymorphism is associated with progression of diabetic nephropathy in Japanese patients with type 1 diabetes mellitus		313700	8818	2	2003	 Homozygosity for the Z+2 allele was associated with accelerated early progression of diabetic nephropathy in Japanese type 1 diabetic patients.	Cohort 101 patients followed up after the onset of type 1 diabetes 										
117523	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Suter, N. M.  et al. 2003	12582022				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Washington	CDC GDPinfo	367	Hs.496240			Cancer epidemiology, biomarkers & prevention. 2003 Feb;12(2):127-35	Androgen Receptor (CAG)(n) and (GGC)(n) Polymorphisms and Breast Cancer Risk in a Population-Based Case-Control Study of Young Women		313700	8819	2	2003	In addition, these data suggest that AR repeat length may be partly responsible for the increased risk for early-onset breast cancer in women who use OCs, although these findings need replication in other populations.	Control:461:controls;Case:524 breast cancer cases										
117524	Y	bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Chen, H. Y.  et al. 2003	12593895				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			European journal of obstetrics, gynecology, and reproductive biology. 2003 Mar;107(1):52-6	Androgen receptor (AR) gene microsatellite polymorphism in postmenopausal women: correlationto bone mineral density and susceptibility to osteoporosis.		313700	8820	2	2003	 The present study suggests that the androgen receptor gene microsatellite polymorphism may be a candidate genetic marker for risk of osteoporosis in postmenopausal women.	Cohort 168 of 477 postmenopausal women randomly recruited 										
117519		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent	X	Xq11.2-q12	AR	66680598	66860844		Beilin, J.  et al. 2001	11550169				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Australian	Australia	CDC GDPinfo	367	Hs.496240			Cancer. 2001 Aug;92(4):941-9	A case-control study of the androgen receptor gene CAG repeat polymorphism in Australian prostate carcinoma subjects.		313700	8814	2	2001	 In this Australian study population, the AR CAG repeat polymorphism was not a risk factor for prostate carcinoma, but a shorter repeat sequence was associated with earlier age at diagnosis.	Case:456 matched cases;Control:456 matched controls;Case:545 cases of prostate carcinoma										
117520	N	prostate volume/histology endocrine patterns	AGING	AGE	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Schatzl, G.  et al. 2002	12111704				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor, 5alpha-reductase, and PSA genes with prostate volume, clinical parameters, and endocrine status in elderly men.		313700	8816	2	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.	Cohort 190 elderly (66.5 +/- 9.2 yr) men with lower urinary tract symptoms 										
117521	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Recurrence, Local|Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Mononen, N.  et al. 2002	12189490				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Finnish		CDC GDPinfo	367	Hs.496240			Human genetics. 2002 Aug;111(2):166-71	Androgen receptor CAG polymorphism and prostate cancer risk		313700	8817	2	2002	Our results suggest that the CAG polymorphism of the AR gene is unlikely to have a major role in the development or progression of PC in the Finnish population. The association of CAG repeats with the risk of BPH warrants further study.	Case patients with prostate cancer:Finland;Control patients with benign prostate hyperplasia and population controls										
117516		benign prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Roberts RO 2004	14742287				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	American		KGB	367	Hs.496240	urologic measures		American journal of epidemiology. 2004 Feb;159(3):269-76	Androgen receptor gene polymorphisms and increased risk of urologic measures of benign prostatic hyperplasia.		313700	902	1	2004												
117517	Y	Breast Cancer, male	CANCER	CAN	Carcinoma, Ductal, Breast|Breast Neoplasms, Male|Androgen-Insensitivity Syndrome	X	Xq11.2-q12	AR	66680598	66860844	0.001	MacLean HE et al., 2004	15609126	CAG repeat, long allele (>=24)	number of Gln repeats in transactivation domain	coding sequence	Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Australian		HE MacLean	367	Hs.496240			Breast cancer research and treatment. 2004 Dec;88(3):239-46	Increased frequency of long androgen receptor CAG repeats in male breast cancers		313700	903	1	2004	Longer AR CAG repeats are more common in men with breast cancer than in the control male population. Androgen hyposensitivity, caused by long AR CAG repeats, may increase the risk of breast cancer in men.	Case:40; Control:456										
117518	Y	prostate enlargement	CANCER	CAN	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Shibata, A.  et al. 2001	11547131				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			The Journal of urology. 2001 Oct;166(4):1560-4	Genetic polymorphisms in the androgen receptor and type II 5 alpha-reductase genes in prostate enlargement.		313700	8813	2	2001	 Our finding further supports the hypothesis that the shorter CAG repeat length of the androgen receptor gene is related to prostate enlargement.	Control:197 controls with a prostate weighing less than 80 gm;Case:68 men with a prostate weighing 80 gm. or greater										
117512		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Cicek MS 2004	14991867				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Prostate. 2004 Apr;59(1):69-76	Association of prostate cancer risk and aggressiveness to androgen pathway genes: SRD5A2, CYP17, and the AR.		313700	898	1	2004	 These findings suggest that the SRD5A2 V89L variant may influence risk of developing prostate cancer, especially among men with a younger age of diagnosis or more aggressive disease.											
117514	Y	semen PSA levels in adolescence.	NORMALVARIATION	NV	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Giwercman YL 2004	15042597				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Prostate. 2004 May;59(3):227-33	Androgen receptor CAG repeat length correlates with semen PSA levels in adolescence.		313700	900	1	2004	 In adolescence, AR genotype, but not serum testosterone, is associated with the level of seminal PSA.	Cohort 274 military conscripts										
117515		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Visvanathan K 2004	14713779				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of urology. 2004 Feb;171(2 Pt 1):652-5	Association among an ornithine decarboxylase polymorphism, androgen receptor gene (CAG) repeat length and prostate cancer risk.		313700	901	1	2004	 The ODC A allele was not associated with a statistically significant increased risk of prostate cancer. However, this association may vary according to the number of CAG repeats in the AR receptor and smoking status.											
117509		mammographic density	OTHER	OTH	Breast Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Lillie EO 2004	14973115				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	American		KGB	367	Hs.496240	women taking and not taking estrogen and progestin therapy		Cancer research. 2004 Feb;64(4):1237-41	Polymorphism in the androgen receptor and mammographic density in women taking and not taking estrogen and progestin therapy.		313700	895	1	2004												
117510	Y	androgen insensitivity syndrome	METABOLIC	MET	Gonadal Dysgenesis, 46,XY|Androgen-Insensitivity Syndrome	X	Xq11.2-q12	AR	66680598	66860844		MacLean HE 2004	14974091				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Australian	Australia	KGB	367	Hs.496240			Human mutation. 2004 Mar;23(3):287	Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.		313700	896	1	2004		Case:8										
117511		Kennedy's disease	OTHER	OTH	Muscular Atrophy, Spinal|Nerve Degeneration	X	Xq11.2-q12	AR	66680598	66860844		Greenland KJ 2004	14999487				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Journal of neurology. 2004 Jan;251(1):35-41	Polymorphic CAG repeat length in the androgen receptor gene and association with NEUROLOGICALeneration in a heterozygous female carrier of Kennedy's disease.		313700	897	1	2004												
117505		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Liede A 2003	14504193				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Philippines	KGB	367	Hs.496240			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):848-52	Androgen receptor gene polymorphism and breast cancer susceptibility in The Philippines.		313700	891	1	2003												
117506		Esophageal Cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Dietzsch E 2003	12925954	GGC and CAG trinucleotide repeat			Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		South Africa	KGB	367	Hs.496240			International journal of cancer. Journal international du cancer. 2003 Oct;107(1):38-45	Esophageal cancer risk in relation to GGC and CAG trinucleotide repeat lengths in the androgen receptor gene.		313700	892	1	2003												
117507		androgen-independent prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Taplin ME 2003	12860943				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Journal of clinical oncology. 2003 Jul;21(14):2673-8	Androgen receptor mutations in androgen-independent prostate cancer: Cancer and Leukemia Group B Study 9663.		313700	893	1	2003	 These data suggest that AR mutations are present in approximately 10% of patients with prostate cancer who experience treatment failure with hormone therapy that included an antiandrogen. Mutations in the AR likely confer a growth advantage for a subset of progressive prostate cancers. Correlation of AR mutation with antiandrogen withdrawal response or survival could not be made.											
117502		androgen insensitivity syndrome	METABOLIC	MET	Pseudohermaphroditism|Androgen-Insensitivity Syndrome	X	Xq11.2-q12	AR	66680598	66860844		Melo KF 2003	12843171				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Brazil	KGB	367	Hs.496240			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3241-50	Clinical, hormonal~~~ behavioral~~~ and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.		313700	888	1	2003												
117503		normal variation	NORMALVARIATION	NV		X	Xq11.2-q12	AR	66680598	66860844		Willing MC 2003	12879219				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		313700	889	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
117504	Y	cognitive function in older men	AGING	AGE	Cognition Disorders	X	Xq11.2-q12	AR	66680598	66860844		Yaffe K 2003	14573323				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Biological psychiatry. 2003 Nov;54(9):943-6	Androgen receptor CAG repeat polymorphism is associated with cognitive function in older men.		313700	890	1	2003	 Research should be directed at identifying the mechanism for this association and to determine if treatment with testosterone prevents cognitive decline.	Cohort 301 community-dwelling white men (mean age, 73.0 +-/- 7.1										
117499	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	X	Xq11.2-q12	AR	66680598	66860844	0.038	Alevizaki M 2003	14974917	> or = 23 repeats (longAR).	The shorter CAG repeat of the AR gene is associated with more severe CAD	coding sequence	Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240	BMI		Clinical endocrinology. 2003 Dec;59(6):749-55	The androgen receptor gene CAG polymorphism is associated with the severity of coronary artery disease in men.		313700	885	1	2003	 The shorter CAG repeat of the AR gene is associated with more severe CAD, which suggests a role for the sensitivity to androgens in the increased frequency of CAD in males. In addition, a protective role of endogenous oestrogen, which is higher in the longAR subgroup, can contribute to the observed difference.	Case:131 men (36-86 years old) undergoing coronary angiography										
117500	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844	n	Gombos Z et al. 2003	14641003				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Finnish	Finland	Y Wang	367	Hs.496240			European journal of endocrinology. 2003 Dec;149(6):597-600	Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients withchildhood-onset type 1 diabetes.		313700	886	1	2003	 The results do not support a common role for the androgen receptor gene exon 1 CAG repeat in T1D susceptibility; however, an effect of a disease variant in linkage disequilibrium could be detected.											
117501		ovarian hyperandrogenism	METABOLIC	MET	Hyperandrogenism|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Ibanez L 2003	12843184				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3333-8	Androgen receptor gene CAG repeat polymorphism in the development of ovarian hyperandrogenism.		313700	887	1	2003												
117495		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Rebbeck TR et al. 1999	10205268				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			American journal of human genetics. 1999 May;64(5):1371-7	Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.		313700	881	1	1999												
117496	Y	Phenotypic heterogeneity	OTHER	OTH	Gynecomastia	X	Xq11.2-q12	AR	66680598	66860844		Zenteno JC et al. 2002	12006704				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Hormone research. 2002 ;57(4-Mar):90-3	Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor.		313700	882	1	2002	 As AR missense mutations changing alanine 870 to valine have been previously described in 3 unrelated patients showing severe AIS phenotypes, we conclude that phenotypic heterogeneity associated to identical mutations in the AR gene is probably due to individual functional differences in AR coregulator molecules.											
117498	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Disease Progression	X	Xq11.2-q12	AR	66680598	66860844		Yu H et al. 2000	10817350				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Breast cancer research and treatment. 2000 Jan;59(2):153-61	Shorter CAG repeat length in the androgen receptor gene is associated with more aggressive forms of breast cancer.		313700	884	1	2000												
117491	Y	hereditary and sporadic prostate cancer risk.	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Chang BL et al. 2002	11935317				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Human genetics. 2002 Feb;110(2):122-9	Polymorphic GGC repeats in the androgen receptor gene are associated with hereditary and sporadic prostate cancer risk.		313700	877	1	2002												
117492	Y	androgen insensitivity syndrome	METABOLIC	MET	Pseudohermaphroditism|Syndrome	X	Xq11.2-q12	AR	66680598	66860844		Lobaccaro JM et al. 1993	8096390				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		France	KGB	367	Hs.496240			The Journal of steroid biochemistry and molecular biology. 1993 Mar;44(3):211-6	Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.		313700	878	1	1993												
117493	Y	isolated penile hypospadias	DEVELOPMENTAL	DEV	Hypospadias	X	Xq11.2-q12	AR	66680598	66860844		Sutherland RW et al. 1996	8683794				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of urology. 1996 Aug;156(2 Pt 2):828-3	Androgen receptor gene mutations are rarely associated with isolated penile hypospadias.		313700	879	1	1996	 Isolated distal shaft hypospadias is associated with mutations of the androgen receptor gene but these mutations appear to be a rare cause of hypospadias.											
117488	Y	urolithiasis	METABOLIC	MET	Urinary Calculi	X	Xq11.2-q12	AR	66680598	66860844		Chen WC et al. 2001	11564035				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			BJU international. 2001 Sep;88(4):432-6	The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men.		313700	874	1	2001	 Urolithiasis among men appears to be associated with AR gene CAG repeat and ER gene TA repeat polymorphisms, whereas there was no significant association among female stone patients. These sex hormone receptors seem to be related to the higher incidence of stone formation among men.											
117489	N	breast/ovarian cancer phenotype	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Dagan E et al. 2002	12404104				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Israel	KGB	367	Hs.496240			European journal of human genetics. 2002 Nov;10(11):724-8	Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.		313700	875	1	2002	There is no conclusive evidence of association between AR CAG repeat size and breast or ovarian cancer risk in Jewish BRCA1/2 mutation carriers. A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded.	Cohort 227 BRCA1/2 mutation carriers								N		
117490	Y	clinical parameters and endocrine status in elderly men	AGING	AGE	Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Schatzl G et al. 2002	12111704				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor 5alpha-reductase and PSA genes with prostate volume clinical parameters and endocrine status in elderly men.		313700	876	1	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.	Cohort 190 elderly (66.5 +/- 9.2 yr) men with lower urinary tract symptoms										
117485	Y	complete androgen insensitivity	OTHER	OTH	Androgen-Insensitivity Syndrome	X	Xq11.2-q12	AR	66680598	66860844		Peters I et al. 1999	10221770				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Molecular and cellular endocrinology. 1999 Feb;148(2-Jan):47-53	An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.		313700	871	1	1999												
117486	Y	androgen levels	OTHER	OTH		X	Xq11.2-q12	AR	66680598	66860844		Westberg L et al. 2001	11397855				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2562-8	Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women.		313700	872	1	2001	Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ERbeta gene, respectively.	Cohort 270 women from a population based cohort										
117487	Y	ADHD and conduct disorder	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity|Conduct Disorder	X	Xq11.2-q12	AR	66680598	66860844		Comings DE et al. 1999	10380986				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Neuroreport. 1999 May;10(7):1589-92	Association of the androgen receptor gene (AR) with ADHD and conduct disorder.		313700	873	1	1999												
117481	Y	reduced trans-activation impaired sperm production and male infertility	OTHER	OTH	Infertility, Male	X	Xq11.2-q12	AR	66680598	66860844		Tut TG et al. 1997	9360540				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of clinical endocrinology and metabolism. 1997 Nov;82(11):3777-82	Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation impaired sperm production and male infertility.		313700	867	1	1997												
117482	N	isolated cryptorchidism	OTHER	OTH	Cryptorchidism|Chromosome Disorders|Chromosome Aberrations	X	Xq11.2-q12	AR	66680598	66860844	n	Wiener JS et al. 1998	9720578				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of urology. 1998 Sep;160(3 Pt 1):863-5	Androgen receptor gene alterations are not associated with isolated cryptorchidism.		313700	868	1	1998	 Mutations of the androgen receptor gene in the hormone and DNA binding domains of the protein appear to be an unlikely cause of isolated cryptorchidism.											
117483	Y	male pattern baldness	OTHER	OTH	Alopecia	X	Xq11.2-q12	AR	66680598	66860844		Ellis JA et al. 2001	11231320				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2		Australia	KGB	367	Hs.496240			The Journal of investigative dermatology. 2001 Mar;116(3):452-5	Polymorphism of the androgen receptor gene is associated with male pattern baldness.		313700	869	1	2001												
117477	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	X	Xq11.2-q12	AR	66680598	66860844		Tilley WD et al. 1996	9816170				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Clinical cancer research. 1996 Feb;2(2):277-85	Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence.		313700	863	1	1996												
117478	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844	n	Correa-Cerro L et al. 1999	10234512				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	French-German	France|Germany	KGB	367	Hs.496240			European journal of human genetics. 1999 Apr;7(3):357-62	(CAG)nCAA and GGN repeats in the human androgen receptor gene are not associated with prostate cancer in a French-German population.		313700	864	1	1999	We conclude that  these polymorphisms can not be used as predictive parameters for prostate cancer in the French or German population.											
117479	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Balic I et al. 2002	12394768				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			The Journal of urology. 2002 Nov;168(5):2245-8	Androgen receptor length polymorphism associated with prostate cancer risk in Hispanic men.		313700	865	1	2002	 To our knowledge, our study represents the first case-control study of the androgen receptor gene in a Hispanic population and provides evidence of the increased prostate cancer risk associated with short CAG repeats. Our results suggest that short CAG repeats are associated with an increased prostate cancer risk in Hispanic men.											
117474	Y	uterine endometrial carcinoma	CANCER	CAN	Uterine Neoplasms|Endometrial Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Sasaki M et al. 2000	10708486	CAG repeat in exon 1			Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Molecular carcinogenesis. 2000 Mar;27(3):237-44	The expansion of the CAG repeat in exon 1 of the human androgen receptor gene is associated with uterine endometrial carcinoma.		313700	860	1	2000												
117475	N	breast/ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	X	Xq11.2-q12	AR	66680598	66860844	n	Menin C et al. 2001	11368874				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Cancer letters. 2001 Jul;168(1):31-6	Lack of association between androgen receptor CAG polymorphism and familial breast/ovarian cancer.		313700	861	1	2001												
117476	N	impaired sperm production	OTHER	OTH		X	Xq11.2-q12	AR	66680598	66860844	n	Giwercman YL et al. 1998	9842998				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Clinical genetics. 1998 Nov;54(5):435-6	No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men.		313700	862	1	1998												
117470		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Zekanowski, C.  et al. 2003	14769392				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2	Polish	Poland	CDC GDPinfo	351	Hs.642685			Experimental neurology. 2003 Dec;184(2):991-6	Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.		104760	20540	2	2003	It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.	Cohort 40 Polish patients with familial early-onset Alzheimer's disease Poland 										
117471		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Clarimon, J.  et al. 2003	12782964				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2	Spanish	Spain	CDC GDPinfo	351	Hs.642685			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		104760	24080	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
117472		prostate-specific antigen levels	CANCER	CAN	Prostatic Neoplasms	7	7q22	APS				Xu, J.  et al. 2002	12101115				Adaptor protein with pleckstrin homology and src homology 2 domains	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020979			CDC GDPinfo	10603	Hs.489448			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):664-9	Association studies of serum prostate-specific antigen levels and the genetic polymorphisms at the androgen receptor and prostate-specific antigen genes.		605300	8815	2	2002	We hypothesize that the effects of ARE1 and AR genotypes on mean PSA levels may reflect the effect of other causal polymorphisms in these genes, which are in linkage disequilibrium with these polymorphisms. A systematic approach is required to identify sequence variants in these genes and other related genes, and to test for an association between these variants and PSA levels in large samples.	Cohort 518 men 										
117467	Y	Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal	NEUROLOGICAL	NEUR	Tourette Syndrome|Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Ezquerra, M.  et al. 2003	12925374				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDPinfo	351	Hs.642685			Archives of neurology. 2003 Aug;60(8):1149-51	A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease		104760	19115	2	2003	 We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.	Cohort 130 control individuals 										
117468		dementia	PSYCH	PSY	Dementia|Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Signorini, S.  et al. 2004	15975068				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2	Italian	Italy	CDC GDPinfo	351	Hs.642685			Current Alzheimer research. 2004 Aug;1(3):215-8	Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.		104760	19121	2	2004												
117464	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Zeldenrust SR et al. 1993	7686976	G-->T transversion at the first position of the codon for amino acid 717, resulting in a substitution of phenylalanine for valine in the APP protein			Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			KGB	351	Hs.642685			Journal of medical genetics. 1993 Jun;30(6):476-8	RFLP analysis for APP 717 mutations associated with Alzheimer's disease.		104760	847	1	1993												
117465		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Taylor JE et al. 1988	2907602				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			KGB	351	Hs.642685			Molecular biology & medicine. 1988 Dec;5(3):167-72	Association study between Alzheimer's disease and restriction fragment length polymorphisms at the human amyloid beta protein gene locus.		104760	848	1	1988												
117466	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Arango, D.  et al. 2001	11568920				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2	Colombian	Colombia	CDC GDPinfo	351	Hs.642685			American journal of medical genetics. 2001 Oct;103(2):138-43	Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloidbeta precursor protein and presenilin genes in Colombia.		104760	19110	2	2001	The majority of the Colombian AD cases, predominantly late-onset, were negative for PSEN and APP mutations.	Control:53 controls (not otherwise specified in abstract);Case:76 Alzheimer's disease patients (11 autosomal dominant, 23 familial, and 42 sporadic AD patient):Colombia										
117461	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.33	APOM	31728199	31733966		Kabbara, A.  et al. 2004	15172102				Apolipoprotein M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019101.2	French	France	CDC GDPinfo	55937	Hs.534468			Neuroscience letters. 2004 Jun;363(2):139-43	Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.		606907	20538	2	2004	We were unable to detect any polymorphisms in the coding and exon/intron sequences of the APOF. Finally, we excluded APOM as a genetic determinant of AD in our large French case control population.	Case French Alzheimer's disease patients;Control:controls										
117462	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003	n	Li L 1998	9737782	Tetranucleotide repeat site within intron 7			Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2		Alabama	KGB	351	Hs.642685			Human genetics. 1998 Jul;103(1):86-9			104760	845	1	1998		Case:183; Control:86										
117463	Y	Lewy Body Formation	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Halliday G et al. 1997	9178856				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			KGB	351	Hs.642685			Neuroscience letters. 1997 May;227(1):49-52	Further evidence for an association between a mutation in the APP gene and Lewy body formation.		104760	846	1	1997												
117457		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein	METABOLIC	MET		17	17q23-qter	APOH	61638612	61655992		Crews, D. E.  et al. 2004	15252864				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			American journal of physical anthropology. 2004 Aug;124(4):364-72	Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE):associations with lipids, and apolipoprotein levels in American Samoans.		138700	25856	2	2004	The interaction term between ACE and APO E was also significantly associated with total-c and APO E levels, and the ACE genotype showed a significant main effect on APO AI levels in multivariate analyses.	Cohort 274 American Samoans 										
117458		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q13.1	APOL1	34979069	34993523		McGhee, K. A.  et al. 2005	15949655				Apolipoprotein L, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003661.2			CDC GDPinfo	8542	Hs.114309			Schizophrenia research. 2005 Jul;76(3-Feb):231-8	Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs.		603743	15319	2	2005												
117459		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q12	APOL2	34952200	34965946		McGhee, K. A.  et al. 2005	15949655				Apolipoprotein L, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030882.2			CDC GDPinfo	23780	Hs.474740			Schizophrenia research. 2005 Jul;76(3-Feb):231-8	Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs.		607252	20537	2	2005												
117460		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.2-q13.2	APOL4	34915121	34930825		McGhee, K. A.  et al. 2005	15949655				Apolipoprotein L, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030643.3			CDC GDPinfo	80832	Hs.115099			Schizophrenia research. 2005 Jul;76(3-Feb):231-8	Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs.		607254	24079	2	2005												
117453		brain hemorrhage	CARDIOVASCULAR	CARD		17	17q23-qter	APOH	61638612	61655992		Vitale, K.  et al. 2002	12371681				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			Human biology; an international record of research. 2002 Aug;74(4):545-54	Apolipoprotein H genetic variability in the population of Krk Island, Croatia		138700	15315	2	2002	No significant differences between villages were observed. When these data were compared to those of other populations studied so far, a significant association between APOH allele frequencies and latitude was observed. We hypothesize that this association reflects differences in diet composition across different climatic zones.	Cohort 397 individuals from seven villages (192 males; 205 females) Krk Island, Croatia 										
117454		lipoprotein	METABOLIC	MET	Coronary Disease	17	17q23-qter	APOH	61638612	61655992		Bosse, Y.  et al. 2005	16159595				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1		Quebec	CDC GDPinfo	350	Hs.445358			Atherosclerosis. 2005 Oct;182(2):231-9	Detection of a major gene effect for LDL peak particle diameter and association with apolipoprotein H gene haplotype.		138700	15318	2	2005												
117455		lipids	METABOLIC	MET		17	17q23-qter	APOH	61638612	61655992		Tsunoda, K.  et al. 2002	12495080				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			Human biology; an international record of research. 2002 Oct;74(5):659-71	Apolipoprotein E and H polymorphisms in Mongolian Buryat: allele frequencies and relationship withplasma lipid levels		138700	20536	2	2002	No significant effects of the APOH genotypes on any of the plasma lipid levels were observed. In particular, our data regarding APOE suggest that the Buryat are genetically close in allele frequencies to the Evenki and Inuits, but differ from them in the association of genotype APOE*4/E*3 with cholesterol levels.	Cohort 125 healthy Buryat aged 17 to 73 years 										
117450	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q23-qter	APOH	61638612	61655992		Xia, J.  et al. 2003	12887738				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			Zhonghua yi xue za zhi. 2003 Apr;83(7):537-40	[The relationship of apolipoprotein H gene polymorphism with stroke]		138700	8809	2	2003	 A allele in G341A (Ser88Asn) polymorphism may be a genetic risk factor of CH among Changsha Hans, especially the CH patients with hypertension and those with a family history of hypertension.	Control:100 healthy controls;Case:260 patients with stroke of Han nationality	family history									
117451		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Genetic Predisposition to Disease	17	17q23-qter	APOH	61638612	61655992		Xia, J.  et al. 2004	14707422				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1	Chinese	China	CDC GDPinfo	350	Hs.445358			Cerebrovascular diseases (Basel, Switzerland). 2004 ;17(3-Feb):197-203	Apolipoprotein H gene polymorphisms and risk of primary cerebral hemorrhage in a Chinese population.		138700	8810	2	2004	 Our results suggest that the G341A (Ser88Asn) polymorphism might be associated with increased risk of PICH in a Chinese population. The association appeared to be mediated by the generation of hypertension.	Control:100 healthy controls;Case:140 Chinese primary cerebral hemorrhage patients										
117452		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	17	17q23-qter	APOH	61638612	61655992		Yasuda, S.  et al. 2005	15641049				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			Arthritis and rheumatism. 2005 Jan;52(1):212-8	Significance of valine/leucine(247) polymorphism of beta(2)-glycoprotein I in antiphospholipid syndrome: Increased reactivity ofanti-beta(2)-glycoprotein I autoantibodies to the valine(247) beta(2)-glycoprotein I variant		138700	8811	2	2005	 The Val(247) beta(2)GPI allele was associated with both a high frequency of anti-beta(2)GPI antibodies and stronger reactivity with anti-beta(2)GPI antibodies compared with the Leu(247) beta(2)GPI allele, suggesting that the Val(247) beta(2)GPI allele may be one of the genetic risk factors for development of APS.	Control:61:controls;Case:65 Japanese patients with antiphospholipid syndrome and/or systemic lupus erythematosus who were positive for antiphospholipid antibodies										
117447	Y	lipoprotein; antiphospholipid syndrome	OTHER	OTH		17	17q23-qter	APOH	61638612	61655992		Mehdi, H.  et al. 2003	12605674				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			European journal of biochemistry . 2003 Jan;270(2):230-8	A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I.		138700	8806	2	2003	These results suggest that the substitution of C with A at the beta2GPI transcriptional initiation site is a causative mutation that affects its gene expression at the transcriptional level and ultimately beta2GPI plasma levels and the occurrence of anti-phopholipid antibodies.	Case:232 lupus women;Control:50 normal human liver tissues										
117449	N	lipids; stroke	METABOLIC	MET	Cerebrovascular Accident|Cerebral Infarction|Cerebral Hemorrhage	17	17q23-qter	APOH	61638612	61655992		Xia, J.  et al. 2003	12673579				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1		China	CDC GDPinfo	350	Hs.445358			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):114-8	[The relationship of apolipoprotein H G1025C (Try316Ser) polymorphism with stroke and its effect on plasma lipid levels in Changsha Hans]		138700	8808	2	2003	 There was no association betweenG1025C (Try316Ser) polymorphism and stroke in Changsha Hans. G1025C (Try316Ser) polymorphism was associated with plasma lipid metabolism in Changsha Hans.	Control:100 healthy controls;Case:260 Changsha Han stroke patients										
117444	Y	reduced gene expression and lower plasma levels of beta2-glycoprotein I	OTHER	OTH		17	17q23-qter	APOH	61638612	61655992		Mehdi H et al. 2003	12605674				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			KGB	350	Hs.445358			European journal of biochemistry . 2003 Jan;270(2):230-8	A functional polymorphism at the transcriptional initiation site in beta2-glycoprotein I (apolipoprotein H) associated with reduced gene expression and lower plasma levels of beta2-glycoprotein I.		138700	843	1	2003	These results suggest that the substitution of C with A at the beta2GPI transcriptional initiation site is a causative mutation that affects its gene expression at the transcriptional level and ultimately beta2GPI plasma levels and the occurrence of anti-phopholipid antibodies.	Case:232 lupus women;Control:50 normal human liver tissues										
117445		systemic lupus erythematosus	IMMUNE	IMM	Thromboembolism|Lupus Erythematosus, Systemic|Antiphospholipid Syndrome	17	17q23-qter	APOH	61638612	61655992		Gushiken FC 1999	10366111	306 and 316			Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			Y Wang	350	Hs.445358			Arthritis and rheumatism. 1999 Jun;42(6):1189-93	Polymorphism of beta2-glycoprotein I at codons 306 and 316 in patients with systemic lupus erythematosus and antiphospholipid syndrome.		138700	844	1	1999	 The prevalence of mutations in the fifth domain of beta2GPI in these patients with SLE and/or APS were similar to those previously reported for the general population. Heterozygosity for either mutation does not influence the incidence of aPL, but in patients with SLE, the mutation at exon 8 may predispose to thrombosis as an independent factor.											
117446		lipoprotein	METABOLIC	MET		17	17q23-qter	APOH	61638612	61655992		Singh, P.  et al. 2002	12031135				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1	Indian		CDC GDPinfo	350	Hs.445358			Annals of human biology. 2002 May-Jun;29(3):247-55	Genetics of apolipoprotein H (beta2-glycoprotein I) polymorphism in India.		138700	8804	2	2002	 Overall, the observed variation at this locus in Indian populations is comparable to many Caucasian populations. An analysis of world populations showed that APOH is a useful genetic marker for population and anthropological studies.	Cohort 1381 unrelated and randomly selected individuals from North India (Brahmins, Banias, Jat Sikhs, Khatris, Scheduled Castes, Lobanas and Rajputs), West India (Brahmin and Patels) and Central India (Brahmins and Baiga tribe) India 										
117441		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	19	19q13.2	APOE	50100878	50104490		Navarro-Lopez, F.   2002	11975906				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		107741	28035	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
117442		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.2	APOE	50100878	50104490		Liljedahl, U.  et al. 2003	12544508				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		107741	28278	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
117443		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q13.3	APOF	55040621	55042850		Kabbara, A.  et al. 2004	15172102				Apolipoprotein F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001638.2	French	France	CDC GDPinfo	319	Hs.534302			Neuroscience letters. 2004 Jun;363(2):139-43	Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.		107760	16283	2	2004	We were unable to detect any polymorphisms in the coding and exon/intron sequences of the APOF. Finally, we excluded APOM as a genetic determinant of AD in our large French case control population.	Case French Alzheimer's disease patients;Control:controls										
117439		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Pallaud, C.  et al. 2001	11341749				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		France|Italy	CDC GDPinfo	348	Hs.515465			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		107741	27379	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
117440		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	19	19q13.2	APOE	50100878	50104490		Zee, R. Y.  et al. 2002	12082592				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		107741	28034	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
117437		blood pressure, arterial	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Sass, C.  et al. 2004	15076187				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		107741	26793	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
117438		lipid metabolism	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Pallaud, C.  et al. 2001	11714857				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		107741	26794	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
117434		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Vincent, S.  et al. 2002	12691171				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		107741	25855	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
117435		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Warpeha, K. M.  et al. 2003	12724690				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		107741	26791	2	2003	Review article											
117436		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Han, Z.  et al. 2002	12116231				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Micronesia	CDC GDPinfo	348	Hs.515465			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		107741	26792	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
117431		Alzheimer's disease; triglycerides; atherosclerosis, coronary	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Demarchi, D. A.  et al. 2005	16136540				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of human biology. 2005 Sep-Oct;17(5):593-600	Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska.		107741	25852	2	2005												
117432		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Masana, L.  et al. 2001	11171287				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Spanish	Spain	CDC GDPinfo	348	Hs.515465			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		107741	25853	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
117428		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bertolini, S.  et al. 2004	15135251				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		107741	25849	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
117429		triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Souverein, O. W.  et al. 2005	15657615				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		107741	25850	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
117430		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19q13.2	APOE	50100878	50104490		van Aalst-Cohen, E. S.  et al. 2005	16030523				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		107741	25851	2	2005			alcohol beta blockers body mass smoking (tobacco)									
117425		cholesterol; coronary heart disease; lipoproteins	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Harich, N.  et al. 2002	12220441				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Moroccan Berbers		CDC GDPinfo	348	Hs.515465			Clinical genetics. 2002 Sep;62(3):240-4	Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPAgene and APOE-C1-C2 gene cluster.		107741	24075	2	2002	The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.	Cohort 140 Berber individuals Morroccan Moyen Atlas region 										
117426		triglycerides	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Ribalta, J.  et al. 2005	15764642				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		107741	24076	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
117427		ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia	19	19q13.2	APOE	50100878	50104490		Baitasova, N. B.  et al. 2001	11840804				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Klinicheskaia meditsina. 2001 ;79(12):19-21	[Apolipoprotein genes in patients with ischemic heart disease]		107741	24077	2	2001	No significant relationship between the studied genes polymorphism and coronary disease was detected in the Kazakhs and Uigurs.	Control:205 healthy controls;Case:241 Kazakhs and Uigurs coronary patients										
117422		lipids; left ventricular mass; aortic gradient; aortic valve stenosis	METABOLIC	MET	Aortic Valve Stenosis	19	19q13.2	APOE	50100878	50104490		Avakian, S.  et al. 2001	11903341				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Clinical genetics. 2001 Nov;60(5):381-4	Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis.		107741	24072	2	2001	Univariate analysis showed a higher prevalence of the XbaI X? genotype (p=0.007) of apo B and the apo E2 allele (p=0.034) in patients with severe AS. Apo polymorphisms were not associated with lipid levels, left ventricular mass, or the aortic gradient.	Case:62 non-diabetic patients with severe aortic valve:stenosis;Control:62 control subjects										
117423		cognitive impairment	PSYCH	PSY	Memory Disorders	19	19q13.2	APOE	50100878	50104490		Bartres-Faz, D.  et al. 2002	12113906				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2002 Jul;327(3):177-80	Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment.		107741	24073	2	2002	Multiple regression analyses showed that the APOC1 polymorphism was the only variable which predicted NAA/Cr values in basal ganglia. NAA/Cr metabolites in the medial temporal lobe but not in the basal ganglia region were related with lower performance in verbal memory. 	Cohort 44 subjects with age-related memory impairment 										
117424		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Retz, W.  et al. 2001	11702052				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Psychiatric genetics. 2001 Sep;11(3):115-22	Potential genetic markers of sporadic Alzheimer's dementia		107741	24074	2	2001	We conclude that , apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease.	Case patients suffering from Alzheimer's dementia;Control non-demented psychiatric patients										
117420		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Adams, G. T.  et al. 2003	12871600				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		107741	24070	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
117421		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Crews, D. E.  et al. 2004	15252864				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of physical anthropology. 2004 Aug;124(4):364-72	Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE):associations with lipids, and apolipoprotein levels in American Samoans.		107741	24071	2	2004	The interaction term between ACE and APO E was also significantly associated with total-c and APO E levels, and the ACE genotype showed a significant main effect on APO AI levels in multivariate analyses.	Cohort 274 American Samoans 										
117418		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490		Nakai, K.  et al. 2004	15193960				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Israel	CDC GDPinfo	348	Hs.515465			Life sciences. 2004 Jul;75(8):1003-10	Ethnic differences of coronary artery disease-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry.		107741	24068	2	2004	We demonstrated an ethnic difference of CAD-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry. Further study is necessary to prove causal relation with CAD-associated SNPs and the prevalence of CAD.	Cohort 94 Israeli healthy populations (47 Ashkenazi Jews and 47 Yemenite Jews) obtained from the National Laboratory for the Genetics of Israeli Populations 										
117419		cholesterol, HDL	METABOLIC	MET	Myocardial Infarction|Hypertension	19	19q13.2	APOE	50100878	50104490		Shioji, K.  et al. 2004	14986172				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	CDC GDPinfo	348	Hs.515465			Journal of human genetics. 2004 ;49(3):141-7	A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population		107741	24069	2	2004	These results iYdicate that ABCA1 G(-273)C has a sigYificaYt effect oY the HDL-C level iY the geYeral JapaYese populatioY, but Yot oY the iYcideYce of MI.	Cohort 1,880 subjects recruited from the Suita Study, representing the general population in Japan Japan Cohort 598 subjects with myocardial infarction Cohort 743 subjects 										
117415	Y	lipid metabolism disorders; hyperlipidemia	METABOLIC	MET	HIV Infections|Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Tarr, P. E.  et al. 2005	15809899				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Switzerland	CDC GDPinfo	348	Hs.515465			The Journal of infectious diseases. 2005 May;191(9):1419-26	Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders.		107741	20535	2	2005	 Variant alleles of APOE and APOC3 contribute to an unfavorable lipid profile in patients with HIV. Interactions between genotypes and ART can lead to severe hyperlipidemia. Genetic analysis may identify patients at high risk for severe ritonavir-associated hypertriglyceridemia.	Cohort 329 antiretroviral therapy-treated HIV patients 	antiretroviral									
117416	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Camelo, D.  et al. 2004	14759632				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Colombian	Colombia	CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2004 Mar;218(2-Jan):47-51	Angiotensin-converting enzyme and alpha-2-macroglobulin gene polymorphisms are not associated with Alzheimer's disease in Colombian patients.		107741	24066	2	2004	Using logistic regression and multiple correlation analysis (MCA), we confirmed that the main risk factor associated and consistently grouped with AD patients in this population is APOE4, but this association was not observed with alleles and genotypes of ACE and A2M.	Control:69 nromal controls;Case:83 Alzheimer's disease patients:Colombia										
117417		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Cacabelos, R.   2002	12452480				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		107741	24067	2	2002	Review article											
117413		cholesterol, HDL; cholesterol, LDL; apoA1; apoB	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Descamps, O. S.  et al. 2004	15019539				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2004 Feb;172(2):287-98	Lipoprotein concentrations in newborns are associated with allelic variations in their mothers.		107741	20533	2	2004	 This is the first evidence that maternal genetic variations influence fetal lipoprotein concentrations, independent of the genetic status of the fetus and of the variations of maternal lipoprotein concentrations generated by these genetic variants. It suggests that proteic components of maternal lipoproteins strongly control the metabolism of maternal lipoproteins carried out at the surface of the placenta to assure the cholesterol delivery to the fetus.	Cohort 525 mothers of newborns and the newborns 										
117414		triglycerides; insulin; lipoproteins; apoB; apoC-III	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Garenc, C.  et al. 2004	15549499				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Canadian	Quebec	CDC GDPinfo	348	Hs.515465			Journal of human genetics. 2004 ;49(12):691-700	Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians.		107741	20534	2	2004	The co-transmitted allele distribution between the two-marker genotypes APOE/APOC3(C3238G) and APOC3(C-482T)/PPARalpha(L162V) presented a weak deviation from the assumption of genetic independence. Also, we observed a non-independent distribution of the T-482/G3238 allele combinations within the APOC3 gene, suggesting strong linkage disequilibrium between the C-482T and C3238G polymorphisms. Moreover, comparisons of allele frequencies observed in the population of Quebec City to those obtained in other Caucasian populations suggested that the population of Quebec City may be at a lower risk of developing HTG due to APOE, APOC3 and PPARalpha genetic variants. However, the strong linkage disequilibrium and the two-marker genotype distributions observed in the APOC3 gene suggest that these two variants may functionally interact in the Quebec City population.	Cohort 938 anonymous unlinked newborns Quebec City 										
117411		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Hegele, R. A.  et al. 2001	11512679				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	348	Hs.515465			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		107741	20531	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
117412		hypertriglyceridemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Marcais, C.  et al. 2000	11126401				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Diabetologia. 2000 Nov;43(11):1346-52	Severe hypertriglyceridaemia in Type II diabetes:involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency.		107741	20532	2	2000	Our results strongly support the hypothesis that severe hyperlipaemia in Type II diabetes crucially depends on genetic factors which impair the clearance of triglyceride-rich lipoproteins.	Cohort 116 normolipaemic patients with Type II diabetes mellitus Cohort 28 mildly hypertriglyceridaemic patients with Type II diabetes mellitus Cohort 32 severely hypertriglyceridaemic patients with Type II diabetes mellitus 										
117408		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Sun, Y.  et al. 2005	15862889				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2005 Jun;380(3):219-22	The APOC3 SstI polymorphism is weakly associated with sporadic Alzheimer's disease in a Chinese population.		107741	20528	2	2005	We conclude that  the rare APOC3 G allele may offer some protection against the development of sporadic AD in APOE epsilon4 noncarriers in Chinese.	Case:165 Chinese sporadic Alzheimer's diasese patients;Control:174 age-matched elderly individuals										
117410		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Vascular Diseases|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Baum, L.  et al. 2005	15983323				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Diabetes care. 2005 Jul;28(7):1704-9	Effect of hepatic lipase -514C->T polymorphism and its interactions with apolipoprotein C3 -482C->T and apolipoprotein E exon 4 polymorphisms on the risk of nephropathy in chinese type 2 diabetic patients.		107741	20530	2	2005	 HL T+ genotypes might increase the risk of developing diabetic nephropathy by slowing clearance of triglyceride-rich remnant lipoproteins. In concert with other risk factors (e.g., hyperglycemia), lipid abnormalities may damage the kidneys and endothelium, where reduced binding sites for lipases may precipitate a vicious cycle of dyslipidemia, proteinuria, and nephropathy.											
117405		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Wang, C. H.  et al. 2004	15769335				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua liu xing bing xue za zhi. 2004 Nov;25(11):982-5	[Genetic association of apoE and apoCI gene polymorphisms with coronary heart disease.]		107741	20525	2	2004	 When the subjects carrying both epsilon4 and H2 alleles, they would have higher risk of suffering from CHD than controls.	Case:186 cases with coronary heart disease;Control:350:controls										
117407		lipids; glucose; atherosclerosis	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus|Insulin Resistance|Metabolic Syndrome X|Hyperlipidemias|Diabetes Complications	19	19q13.2	APOE	50100878	50104490		Rodrigo, E.  et al. 2002	12118856				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of transplantation. 2002 Apr;2(4):343-8	Apolipoprotein C-III and E polymorphisms and cardiovascular syndrome, hyperlipidemia, and insulin resistance in renal transplantation.		107741	20527	2	2002	There were no significant differences in the frequency of any of the polymorphisms among patients with dyslipidemia and impaired glucose tolerance. As the number of patients in our sample was small, larger studies are needed to verify these issues. While in the studied population C-III polymorphism appears to have little association with the prevalence of atherosclerotic complications, E4 allele should be considered as a genetic marker of coronary artery disease and global atherosclerosis in renal transplant patients.	Cohort 110 consecutively examined patients undergoing kidney transplantation (age range 24-73 years 										
117402	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Yang, J. D.  et al. 2003	12962909				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Oct;350(1):25-8	Apolipoprotein E -491 promoter polymorphism is an independent risk factor for Alzheimer's disease in the Chinese population.		107741	20522	2	2003	So in the Chinese population only APOE -491 promoter alleles confer significant risk of AD independent of varepsilon 4 status.	Control:133:controls;Case:183 Chinese definite and probable Alzheimer's disease:cases										
117403		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Shi, J.  et al. 2004	14705977				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Acta neurologica Scandinavica. 2004 Feb;109(2):140-5	Association between apolipoprotein CI HpaI polymorphism and sporadic Alzheimer's disease in Chinese		107741	20523	2	2004	 The present study partially confirmed the previous findings, suggesting that the ApoCI A allele might contribute to the susceptibility to moderate to severe sporadic AD in Chinese.	Control:242 age-matched elderly individuals;Case:257 Chinese Alzheimer's disease patients										
117404	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Tycko, B.  et al. 2004	15364690				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	African American	Caribbean Region	CDC GDPinfo	348	Hs.515465			Archives of neurology. 2004 Sep;61(9):1434-9	APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals.		107741	20524	2	2004	 These findings exclude a strong or independent influence of APOE or APOC1 promoter polymorphisms on the variation in APOE-related risk of AD in African American and Caribbean Hispanic individuals.	Control:controls;Case African American and Caribbean Hispanic individuals Alzheimer's disease patients										
117399		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19q13.2	APOE	50100878	50104490		Yu, W.  et al. 2002	12417285				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Japan	CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2002 Dec;165(2):335-42	Molecular genetic analysis of familial hypercholesterolemia: spectrum and regionaldifference of LDL receptor gene mutations in Japanese population.		107741	20519	2	2002	The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)	Cohort 200 unrelated Japanese patients with clinically diagnosed heterozygous familial hypercholesterolemia 										
117400		heart disease, ischemic	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Zateishchikov, D. A.  et al. 2004	15699916				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Kardiologiia. 2004 ;44(12):16-22	[Genetic Predictors of Unfavorable Course in High Risk Patients With Ischemic Heart Disease. Data of Follow-up for Two Years.]		107741	20520	2	2004	Thus genetic factors play a role not only in formation of coronary atherosclerosis but determine the course of ischemic heart disease.	Cohort 154 patients with acute unstable angina 										
117401		cholesterol	METABOLIC	MET	Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Hubacute;cek, J. A.  et al. 2003	12678662				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Czech	Czech Republic	CDC GDPinfo	348	Hs.515465			Physiological research. 2003 ;52(2):195-200	Apolipoprotein E and apolipoprotein CI polymorphisms in the Czech population: almostcomplete linkage disequilibrium of the less frequent alleles of both polymorphisms.		107741	20521	2	2003	An almost complete linkage disequilibrium of the insertion allele of APOCI with the APOE alleles epsilon2 and epsilon4 has been detected and suggests that the deletion in the APOCI gene probably follows the deriving of all three APOE alleles on the APO epsilon3 allele background.	Cohort 653 probands (302 men and 351 women) of Czech origin 										
117397		cholelithiasis	METABOLIC	MET	Gallstones	19	19q13.2	APOE	50100878	50104490		Jiang, Z. Y.  et al. 2004	15133863				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			World journal of gastroenterology. 2004 May;10(10):1508-12	Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.		107741	20517	2	2004	 With an association analysis, it was determined that A allele of CYP7A gene and X+ allele of APOB gene might be considered as risk genes for GSD. These alleles are related with differences of serum lipids among subjects. Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors. But the mechanism for these two alleles responsible for GSD requires further investigations.	Case:105 patients with gallbladder stone disease;Control:274 control subjects										
117398		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	19	19q13.2	APOE	50100878	50104490		Hefler, L.  et al. 2004	14706682				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		107741	20518	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
117394		cholesterol, LDL	METABOLIC	MET	Phenylketonurias	19	19q13.2	APOE	50100878	50104490		Verduci, E.  et al. 2004	15207528				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Prostaglandins, leukotrienes, and essential fatty acids. 2004 Aug;71(2):117-20	Apolipoprotein B gene polymorphism and plasma lipid levels in phenylketonuric children		107741	20514	2	2004	Subgroups of apoB polymorphisms were similar for energy intake, dietary lipids and distribution of apo E polymorphisms. Children carrying XbaI X+ / X+ showed higher plasma levels of LDL cholesterol than children carrying X- / X-/+. This gene-related response to dietary habits might play a role also in non-PKU individuals fed low-fat, low-cholesterol diets.	Cohort 82 phenylketonuric (PKU) children on diet (34 girls, 48 boys, age 4-12 years, median 8 years) 										
117395		holoprosencephaly	NEUROLOGICAL	NEUR	Holoprosencephaly	19	19q13.2	APOE	50100878	50104490		Croen, L. A.  et al. 2002	11857554				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of medical genetics. 2002 Feb;108(1):75-7	Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly		107741	20515	2	2002	Our results suggest that polymorphims in infant genes regulating cholesterol metabolism do not contribute substantially to the risk of HPE. Since a defective maternal-fetal cholesterol transport system has been proposed as a plausible mechanism underlying abnormal cetral nervous system development, and failing to find positive associations in the infants, it may be wortwhile to examine apoB and apoE genotypes in mothers of infants with HPE.	Case:23 infants with holoprosencephaly:1983-1988;Control:73 live born, non-malformed infants who were selected from the population of controls included in two previously describd case-control studies										
117391		hyperlipidemia	METABOLIC	MET	Hyperlipoproteinemia Type III	19	19q13.2	APOE	50100878	50104490		Evans, D.  et al. 2005	16143024				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Clinical genetics. 2005 Oct;68(4):369-72	Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia.		107741	20511	2	2005												
117392		atherosclerosis, coronary; longevity	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Corbo, R. M.  et al. 1999	11533951				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of human biology. 1999 ;11(3):297-304	An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin.		107741	20512	2	1999	Regarding APOE, the cumulated allele frequencies of Ethiopia and Benin were 0.031 and 0.103 for epsilon*2 allele, 0.811 and 0.742 for epsilon*3, and 0.143 and 0.155 for epsilon*4, respectively.	Cohort two population samples of Amhara and Oromo origin from Ethiopia, and in two population samples of Bariba and Berba origin from Benin Amhara and Oromo, Bariba and Berba 										
117393		atherosclerosis, coronary	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Li, S.  et al. 2003	12778454				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):241-3	[Relationship between apolipoprotein E and apolipoprotein B polymorphisms in youths with coronary heart disease]		107741	20513	2	2003	 The alleles for apo e4, XbaI x(+), 3'VNTR-B may be the important genetic markers of Han CHD.	Cohort 244 healthy Han students (among them were 109 students with positive CHD family history) 	family history									
117388		atherosclerosis, coronary; lipoprotein	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Koivu, T. A.  et al. 2004	15559160				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Russian		CDC GDPinfo	348	Hs.515465			Genetika. 2004 Sep;40(9):1293-5	Apolipoprotein E and A-IV polymorphisms in ethnic Russians living in Estonia.		107741	20508	2	2004	The apoA-IV-2 allele and epsilon4 allele frequency of the Russians tended to be lower than in most other European populations.	Cohort 137 Russians Estonia 										
117389		lipoprotein	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Singh, P. P.  et al. 2002	12495081				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Indian		CDC GDPinfo	348	Hs.515465			Human biology; an international record of research. 2002 Oct;74(5):673-82	Genetic variation of apolipoproteins in North Indians.		107741	20509	2	2002	Overall, this study highlights the usefulness of apolipoproteins as genetic markers for clinical, population, and anthropological studies.	Cohort nine endogamous populations of Punjab, North India Punjab, North India 										
117390		cholesterol, HDL; cholesterol, LDL; lathosterol	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Plat, J.  et al. 2002	11952809				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European journal of clinical investigation. 2002 Apr;32(4):242-50	Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption		107741	20510	2	2002	 These findings suggest that all subjects who want to lower their cholesterol concentration, will benefit from plant stanol ester consumption, irrespective of their apoA-IV, SR-BI, HMG-CoA reductase, CETP, or apoE genotype.	Cohort 112 nonhypercholesterolemic subjects, of whom 70 consumed 3 small middle dot8-4 small middle dot0 g plant stanol esters a day for 8 weeks 	plant stanol esters									
117385		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Starinsky, S.  et al. 2004	15523694				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Israel	CDC GDPinfo	348	Hs.515465			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		107741	20505	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
117386		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Petrovic D  et al. 2000	11055796				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Slovene		CDC GDPinfo	348	Hs.515465			Folia biologica. 2000 ;46(5):181-5	Effect of apolipoprotein E polymorphism and apolipoprotein A-1 gene promoter polymorphism on lipid parameters and premature coronary artery disease.		107741	20506	2	2000	the apoE gene polymorphism affected the total and LDL cholesterol levels, whereas neither the apoE gene polymorphism nor the apoA-1 gene promoter polymorphism were shown to be independent risk factors for CAD in Slovenia.	Control:13 healthy controls;Case:166 patients with CAD										
117387		lipids	METABOLIC	MET	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Pisciotta, L.  et al. 2003	14650352				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):202-10	Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.		107741	20507	2	2003	 Extended high-intensity PA in men aged over 40 years may modify their metabolic cardiovascular risk factors even in the presence of some unfavourable genotypes.	Case:100 men aged over 40 years who cycle 120-150 Km/week;Control:100 age-matched sedentary control	physical activity									
117382		dementia in other conditions	PSYCH	PSY	Cerebrovascular Accident|Dementia	19	19q13.2	APOE	50100878	50104490		Arpa, A.  et al. 2003	12736093				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2003 Jun;210(2-Jan):77-82	Apolipoprotein E, angiotensin-converting enzyme and alpha-1-antichymotrypsin genotypes are not associated with post-stroke dementia.		107741	20502	2	2003	Our data indicate that PSD is not associated with the genetic risk factors of vascular dementia (VD) that were studied, and that additional factors may contribute to the pathogenesis of PSD.	Cohort 150 consecutive patients evaluated 3 months after suffering acute strokes 										
117383		menopause	REPRODUCTION	REP	Thrombophilia	19	19q13.2	APOE	50100878	50104490		Tempfer, C. B.  et al. 2005	15879922				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		107741	20503	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
117384		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		De Jong, M. M.  et al. 2002	12433710				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		107741	20504	2	2002	Review article											
117380		Alzheimer's disease; vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Zuliani, G.  et al. 2001	11328206				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Acta neurologica Scandinavica. 2001 May;103(5):304-8	Genetic polymorphisms in older subjects with vascular or Alzheimer's dementia.		107741	20500	2	2001	 Paraoxonase, ACE, and MTHFR polymorphisms were not associated with VD or LOAD; these common polymorphisms might have a marginal role in the pathogenesis of dementia in older subjects. In spite of a low frequency of the apo E epsilon4 allele in our sample, the frequency of epsilon4 allele was about double in LOAD compared with controls.	Case:45 patients with late-onset AD;Control:54 non-demented controls										
117381		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	19	19q13.2	APOE	50100878	50104490		Zuliani, G.  et al. 2002	12196500				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The journals of gerontology Series A, Biological sciences and medical sciences. 2002 Sep;57(9):M611-5	Genetic Factors Associated With the Absence of Atherosclerosis in Octogenarians		107741	20501	2	2002	 The low prevalence of the PON 192 B allele in the VaSA subjects suggests that this polymorphism might have an important role in VaSA, probably by hydrolyzing lipid peroxides and thus preventing low-density lipoprotein from undergoing the oxidative modification. This finding further supports the oxidative hypothesis of ATS.	Control:161 controls with a negative history for cardiovascular:disease;Case:30/30 subjects with moderate carotid atherosclerosis (n=30) and subjects with vascular successful aging:(n=30)										
117377		longevity	AGING	AGE		19	19q13.2	APOE	50100878	50104490		Xia, Y.  et al. 2003	12889841				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	French		CDC GDPinfo	348	Hs.515465			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		107741	20497	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
117378	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Chalmers, K. A.  et al. 2004	15106838				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroreport. 2004 Jan;15(1):95-8	APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease		107741	20498	2	2004	Here we report that polymorphisms within the APOE promoter, ACE1 and CYP46 gene are not risk factors for AD and are not associated with parenchymal or vascular accumulation of Abeta.	Control:58:controls;Case:86 neuropathologically confirmed cases of Alzheimer's:disease										
117374		lipoprotein	METABOLIC	MET	Obesity	19	19q13.2	APOE	50100878	50104490		Chan, D. C.  et al. 2004	15331430				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Arteriosclerosis, thrombosis, and vascular biology. 2004 Nov;24(11):2188-91	ATP-binding cassette transporter G8 gene as a determinant of apolipoprotein B-100 kinetics in overweight men.		107741	20494	2	2004	 Variation in the ABC transporter G8 appears to independently influence the metabolism of apoB-containing lipoproteins in overweight/obese subjects. This may have therapeutic implications for the management of dyslipidemia in these subjects.	Cohort 47 men (body mass index 32+/-3 kg/m2) 										
117375		atherosclerosis, coronary	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Suastegui Roman, R. A.  et al. 2002	12587416				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Mexican		CDC GDPinfo	348	Hs.515465			Rev Invest Clin. 2002 Sep-Oct;54(5):415-21	[Frequency of apolipoprotein E in a Nahua population]		107741	20495	2	2002	This is a descriptive study which contributes to the knowledge of the genetic structure of Mexican population.	Cohort individuals of the Nahua Indian-population Mexico 										
117376		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490		Bennouar, N.  et al. 2004	15217762				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annales de biologie clinique. 2004 May-Jun;62(3):295-304	[Apolipoprotein E and angiotensin-converting enzyme gene polymorphisms as risk factors of coronary disease]		107741	20496	2	2004	Thus, those two alleles (4 and D) appears to be important cardiovascular risk factors in the moroccan population.	Control:141 patients without stenosis or with non-significant stenosis (> 50% of the vascular lumen);Case:250 patients who underwent complete cardiac examination comprising coronary an-gioplasty and biological:analysis:Morocco										
117371		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Shibata, N.  et al. 2005	16157450				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Caribbean Region|Ontario|Florida	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2006 Jan;391(3):142-6	Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.		107741	20491	2	2005												
117372	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Zareparsi, S.  et al. 2005	15829498				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Human molecular genetics. 2005 Jun;14(11):1449-55	Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.		107741	20492	2	2005	The APOE4 is a risk factor and demonstrated a dose-dependent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.	Control:439 unrelated controls, all of Caucasian ancestry;Case:667 unrelated age-related macular degeneration patients										
117373		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Thompson, J. F.  et al. 2005	16103896				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The pharmacogenomics journal. 2005 ;5(6):352-8	An association study of 43 SNPs in 16 candidate genes with atorvastatin response.		107741	20493	2	2005			atorvastatin fluvastatin lovastatin pravastatin simvastatin									
117368	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Styczynska, M.  et al. 2003	12782337				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Polish	Poland	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Jun;344(2):99-102	Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.		107741	20488	2	2003	Our results suggest that the APOE epsilon 4 allele is the only known genetic risk factor for late-onset, sporadic AD.	Case:100 cases of late-onset Alzheimer's disease;Control:100 healthy controls										
117369		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Zappia, M.  et al. 2004	15023809				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian	Italy	CDC GDPinfo	348	Hs.515465			Archives of neurology. 2004 Mar;61(3):341-4	Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.		107741	20489	2	2004	 The MPO and A2M polymorphisms are associated with sporadic AD in southern Italy. Moreover, a genomic interaction between these polymorphisms increases the risk of the development of AD.	Case:148 patients with sporadic Alzheimer's disease Calabria, southern Italy;Control:158 healthy controls										
117365		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Clarimon, J.  et al. 2003	12782964				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Spanish	Spain	CDC GDPinfo	348	Hs.515465			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		107741	20485	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
117366		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Cai, L.  et al. 2005	15931081				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Neuroreport. 2005 Jun;16(9):1023-6	Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients.		107741	20486	2	2005	Through combination-analysis of the data about the A2M-I/D and the A2M-Ile1000Val variants, the A2M gene was suggested to be associated with Alzheimer's disease.	healthy subjects ;Case:387 Chinese han ethnic patients with Alzheimer's disase										
117367	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Hu, C.  et al. 2000	11099722				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2000 Dec;181(2-Jan):127-31	Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan		107741	20487	2	2000	Among these nine candidate genes of AD, the ApoE-4 allele is the only independent genetic risk factor for AD. The other candidate genes in this study were not associated with the occurrence of AD. In addition, there are no gene-gene interactions.	Control:110 non-affected elder individuals among:Taiwan;Case:82 AD patients:Taiwan										
117362		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Wang, X.  et al. 2001	11281447				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Human genetics. 2001 Feb;108(2):105-8	Lack of association between alpha2-macroglobulin polymorphisms and Alzheimer's disease.		107741	20482	2	2001	In conclusion, we observed no association between either the intronic deletion polymorphism or the Ile1000Val polymorphism of A2M and AD in our case-control cohort.	Control:446:controls;Case:555 white late-onset AD cases										
117363		Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Shi, J.  et al. 2001	11484172				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):299-302	No evidence for association between the alpha 2-macroglobulin polymorphism and Alzheimer's disese in the Han Chinese		107741	20483	2	2001	 The above data demonstrate that there is no evidence for the association of A2M polymorphism with the development of LOAD in the Han Chinese population in Gaungzhou.	Control:111 age-matched healthy elderly Chinese men(57) and:women (54);Case:97 Chinese men (32) and women (65) with late-onset Alzheimer's disease:Guangzhou, China										
117364	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Chen, D.  et al. 2004	14675603				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2004 Jan;217(1):13-5	Association of alpha 2-macroglobulin polymorphisms and Alzheimer disease in Mainland Han Chinese.		107741	20484	2	2004	These results indicated that A2M-D allele was probably a weak AD protective factor, and there was a possible interaction of APOE-epsilon4 and A2M-G alleles to increase AD risk in Mainland Han Chinese.	Case Alzheimer's disease patients;Control:controls										
117359		pregnancy loss, recurrent	REPRODUCTION	REP		19	19q13.2	APOE	50100878	50104490		Sheehan, D.  et al. 2001	11383910				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Irish		CDC GDPinfo	348	Hs.515465			Journal of endocrinological investigation. 2001 Apr;24(4):236-45	An assessment of genetic markers as predictors of bone turnover in healthy adults.		107741	20138	2	2001	These findings suggest that healthy Irish adults with either the tt or ff VDR genotype have higher rates of bone turnover than those with Tt or TT, or Ff or FF genotypes, respectively, and therefore may have a higher risk of low bone mineral density and osteoporosis in later life.	Cohort 118 healthy Irish adults (aged 19-67 yr) 										
117360		bone density	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Otsuki, T.  et al. 2004	15375600				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			International journal of molecular medicine. 2004 Oct;14(4):669-76	Effects of genetic and nutritional factors on bone mineral density in young adults		107741	20148	2	2004	These results suggested that a complex array of genetic factors, such as two or more SNPs or SNPs and gender, may be important to BMD.	Cohort 53 healthy volunteers 										
117361		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Jhoo, J. H.  et al. 2001	11231028				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean	Korea	CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2001 Feb;184(1):21-5	Association of alpha-2-macroglobulin deletion polymorphism with sporadic Alzheimer's disease in Koreans		107741	20481	2	2001	our data suggests that the A2M D allele is a modest risk factor for late-onset sporadic AD in Koreans, and the AD risk conferred by the A2M D allele increases in APOE epsilon4 negative subjects.	Case:100 sporadic AD patients;Control:203 unspecified controls										
117357		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Papassotiropoulos, A.  et al. 2005	16013913				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Greece|Switzerland	CDC GDPinfo	348	Hs.515465			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		107741	19650	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
117358		depression	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	19	19q13.2	APOE	50100878	50104490		Serretti, A.  et al. 2001	11526473				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Molecular psychiatry. 2001 Sep;6(5):586-92	Influence of tryptophan hydroxylase and serotonin transporter genes on fluvoxamine antidepressant activity.		107741	19971	2	2001	No significant finding was observed in the overall sample as well as in the pindolol group, while TPH*A/A was associated with a slower response to fluvoxamine treatment in subjects not taking pindolol (P = 0.001). This effect was independent from the previously reported influence of 5-HTTLPR polymorphism. If confirmed, these results may shed further light on the genetically determined component of the response to pharmacological treatments, thus helping the clinician to individualize each patient's therapy according to their genetic pattern.	Cohort 217 inpatients treated with fluvoxamine and either placebo or pindolol 	fluvoxamine pindolol	TPH	*A/A					Y		slower response to fluvoxamine treatment
117354	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Tang, G.  et al. 2002	11992569				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			American journal of medical genetics. 2002 May;114(4):446-9	Genetic study of apolipoprotein E gene, alpha-1 antichymotrypsin gene in sporadic Parkinson disease.		107741	19372	2	2002	Therefore, our data suggested that the ApoE varepsilon2/varepsilon4 genotype might be a susceptibility variant of moderate effect for sporadic idiopathic PD in our samples, whereas the ACT gene signal peptide polymorphism might not.	Control:160 healthy subjects;Case:68 Parkinson disease patients Shanghai China										
117355	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis	19	19q13.2	APOE	50100878	50104490		Zak, I.  et al. 2005	16043164			coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Polish Caucasians		CDC GDPinfo	348	Hs.515465			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):110-8	Contemporaneous carrier-state of two or three		107741	19413	2	2005	 In conclusion, contemporaneous carrier-state of two or three polymorphic variants within analyzed genes is associated with CAD.	case-control		ICAM (K469E, A>G polymorphism)	G allele							
117356	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Jamieson, S. E.  et al. 2005	15644277				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2005 Feb;374(2):124-8	Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.		107741	19463	2	2005	There was no interaction with apolipoprotein E (APOE) varepsilon4, but stratification by gender showed that all of the effect of SLC11A2 was in the male patient group. No other associations with AD were observed at SLC11A1 or SLC11A2, indicating no major effect of either gene for the occurrence of AD.	Case:216 late-onset Alzheimer's disease cases;Control:323 age-matched controls										
117352		diabetes, type 2; lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Osgood, D.  et al. 2003	12788901				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2869-79	Genetic variation at the scavenger receptor class B type I gene locus determines plasma lipoprotein concentrations and particle size and interacts with type 2 diabetes: the framingham study.		107741	19309	2	2003	In conclusion, SR-BI gene variation modulates the lipid profile, particularly in type 2 diabetes, contributing to the metabolic abnormalities in these subjects.	Case:187 diabetic participants from the Framingham study;Control:2,463 nondiabetic participants										
117353	Y	diabetes, type 2; diabetic nephropathy	UNKNOWN	UNK	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Liu, L.  et al. 2003	14674716				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Molecular and cellular biochemistry. 2003 Dec;254(2-Jan):353-8	Co-inheritance of specific genotypes of HSPG and ApoE gene increases risk of type 2 diabetic nephropathy.		107741	19344	2	2003	These results suggest that the HSPG T allele is a risk factor for the development of severe diabetic nephropathy in type 2 diabetic patients, and that the ApoE E2 allele is a risk factor for the occurrence of type 2 diabetes mellitus in Chinese general population. In addition, we find that co-inheritance of T/E2 confers a higher risk of type 2 diabetes mellitus progression to diabetic nephropathy in Chinese.	Case:298 Chinese type 2 diabetic patients;Control:87 nondiabetic controls		HSPG	T	APOE	E2			Y		"diabetes, type 2 diabetic nephropathy"
117350		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Chandak, G. R.  et al. 2002	12495082				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Indian	India	CDC GDPinfo	348	Hs.515465			Human biology; an international record of research. 2002 Oct;74(5):683-93	Apolipoprotein E and presenilin-1 allelic variation and Alzheimer's disease in India.		107741	19113	2	2002	We report a low frequency of APOE E*4 allele, consistent with a low prevalence of AD in this study. Comparisons with other similar studies on APOE from India suggest common risk factors for AD in the Indian population, which is diverse in its ethnic and racial characteristics. The frequency for allele 1 at PS-1 intron-8 polymorphism is the highest among all studies reported. This first report of PS-1 intron-8 polymorphism and AD from India demonstrates no significant association.	Control:100 age- and sex-matched nondemented controls;Case:49 Alzheimer's disease cases:India										
117351		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Zekanowski, C.  et al. 2003	14769392				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Polish	Poland	CDC GDPinfo	348	Hs.515465			Experimental neurology. 2003 Dec;184(2):991-6	Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.		107741	19117	2	2003	It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.	Cohort 40 Polish patients with familial early-onset Alzheimer's disease Poland 										
117346		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Nassar, B. A.  et al. 2005	16298355				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			LastName. 2005	=>Author:Nassar, B. A. //Rockwood, K. //Kirkland, S. A. //Ransom, T. P. //Darvesh, S. //Macpherson, K. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Andreou, P. //Jeffery, J. S. //Cox, J. L. //Title, L. M.		107741	18663	2	2005	 While any single mutation causes only a mildly increased LR (none > 1.7), in combination, the likelihood of early-onset CAD increased to 2.78 with four mutations. The genetics of early-onset CAD appear to be multifactorial, requiring polygenic models to elucidate risk.											
117347	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	19	19q13.2	APOE	50100878	50104490	0.007	Fan, B. J.  et al. 2005	16148883	epsilon 4	Exon 4	coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Southern Chinese	Hong Kong	CDC GDPinfo	348	Hs.515465	glaucoma. normal tension		Molecular vision [electronic resource]. 2005 Aug;11:625-31	SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.		107741	18785	2	2005	 Disease-causing mutations in MYOC and OPTN accounted for only a small proportion of Chinese POAG patients. Common polymorphisms in MYOC, OPTN, and APOE might interactively contribute to POAG, indicating a polygenic etiology.	Case:400 unrelated POAG patients (294 HTG, 106 NTG);Control:281 control subjects without glaucoma over 50 years of age										
117343	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Hashim, Y.  et al. 2001	11793025				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDPinfo	348	Hs.515465			Diabetologia. 2001 Dec;44(12):2227-30	Butyrylcholinesterase K variant on chromosome 3 q is associated with Type II diabetes in white Caucasian subjects.		107741	18086	2	2001	The association of the BcHE gene (3q26) with Type II diabetes could be related to an identified susceptibility locus on chromosome 3q27 but appears to be independent of islet function. The absence of diabetes-specific associations with alpha2M, ApoE or ApoE promoter variants suggest that these are not important in the onset of hyperglycaemia.	Case:276 type 2 diabetic subjects from United Kingdom Prospective Diabetes Study;Control:351 non-diabetic subjects from the Diabetes In Families:study										
117345	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Tedde, A.  et al. 2002	11954859				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian	Italy	CDC GDPinfo	348	Hs.515465			Journal of neurology. 2002 Jan;249(1):110-1	Lack of association between NOS3 poly morphism and Italian sporadic and familial Alzheimer's disease.		107741	18606	2	2002	Our data suggest that the NOS3 Glu298Asp polymorphism does not contribute in the Italian population to genetic susceptibility either in sporadic or in familial AD (independently of age of onset), nor mitigate the effect of ApoE epsilon 4 allele on AD risk.	Case:132/88 Italian Alzheimer's disease patients (n=132) and familial Alzheimer's disease patients (n=88);Control:95 Caucasian apparently normal controls								N		
117341		cerebral amyloid angiopathy	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Christoforidis, M.  et al. 2005	15634227				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuropathology and applied neurobiology. 2005 Feb;31(1):9-Nov	Genetic-morphologic association study: associationbetween the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy.		107741	18078	2	2005	Our results lead us to postulate that the LRP5'87 bp and the LRP exon 3 C alleles of the LRP gene (or another locus that might be in linkage disequilibrium with these LRP polymorphic sites) could modify cerebrovascular LRP function or expression in noncapillary cerebral vessels, leading to an increased cerebrovascular amyloid deposition.	Cohort 125 post-motem cerebral amyloid angiopathy cases 										
117342		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Pritchard, A.  et al. 2005	15925094				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2005 Jul;382(3):221-6	Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease.		107741	18079	2	2005	Therefore, in this present study, we find no evidence for the involvement of this polymorphism either in increasing the susceptibility to AD, or by acting as a phenotypic modifier.	Control:4,473:controls;Case:4,668 Alzheimer's disease patients;Control:466 matched controls;Case:477 Alzheimer's disease patients:UK								N		
117339	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hyperlipoproteinemia Type II	19	19q13.2	APOE	50100878	50104490		Real, J. T.  et al. 2002	12042130				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Med Clin (Barc). 2002 May;118(18):681-5	[Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia]		107741	17993	2	2002	 In FH subjects aged over 35 years from a Southern European population, MI is associated with age, plasma TC and LDLc values, TC/HDLc ratio and the *4 genotype. In addition, MI is related with age and TC plasma levels on an independent basis.	Cohort 108 heterozygous FH subjects aged > 35 years (41 males) 										
117340		Smith-Lemli-Opitz syndrome	UNKNOWN	UNK	Smith-Lemli-Opitz Syndrome	19	19q13.2	APOE	50100878	50104490		Witsch-Baumgartner, M.  et al. 2004	15286151				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of medical genetics. 2004 Aug;41(8):577-84	Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome		107741	18001	2	2004	 These results suggest that the efficiency of cholesterol transport from the mother to the embryo is affected by the maternal apo E genotype and extend the role of apo E and its disease associations to modulation of embryonic development and malformations.	Cohort 137 biochemically characterised patients with Smith-Lemli-Opitz syndrome and 59 of their parents 										
117336	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bian, L.  et al. 2004	15277615				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Neurology. 2004 Jul;63(2):241-5	Insulin-degrading enzyme and Alzheimer disease: Agenetic association study in the Han Chinese		107741	17634	2	2004	 These results suggest a possible synergic interaction between IDE and APOE epsilon4 in the risk to develop late-onset sporadic AD. IDE might modify the effect of the APOE epsilon4 risk factor in the Han Chinese population.	Control:200 control subjects well matched for age, sex, and ethnic background;Case:210 Han Chinese patients with late-onset Alzheimer's:disease										
117337		subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	19	19q13.2	APOE	50100878	50104490		Ruigrok, Y. M.  et al. 2005	15726267				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		107741	17663	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
117332	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Breast Neoplasms|Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Pirskanen, M.  et al. 2005	15944651				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European journal of human genetics. 2005 Sep;13(9):1000-6	Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women.		107741	16553	2	2005				APOE		ESR2	SNP3 T/T	ESR2	SNP2 T/T	Y	gender - female	Alzheimer's disease
117333		cardiovascular disease risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Hall, W. L.  et al. 2005	16332659				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The American journal of clinical nutrition. 2005 Dec;82(6):1260-8; quiz 1365-6	Soy-isoflavone-enriched foods and inflammatory biomarkers of cardiovascular disease risk in postmenopausal women: interactions with genotypeand equol production		107741	16556	2	2005	 Isoflavones have beneficial effects on CRP concentrations, but not on other inflammatory biomarkers of cardiovascular disease risk in postmenopausal women, and may improve VCAM-1 in an ERbeta gene polymorphic subgroup.		diet									
117334		Alzheimer's disease; chronic obstructive pulmonary disease/COPD	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Das, K.  et al. 2003	14523999				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Indian		CDC GDPinfo	348	Hs.515465			Anthropol Anz. 2003 Sep;61(3):261-8	Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India		107741	16881	2	2003	The overall analysis showed that these polymorphisms are useful anthropological markers for micro-evolutionary and genetic structure studies.	Cohort three subpopulations (Bison Horn Maria of the Kuakonda and Tokapal Block, and Abuj Maria of the Abujmar Hills of the Orchha block) of the Maria Gond tribe Madhya Pradesh, India 										
117329		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Johansson, A.  et al. 2004	15034781				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Europe	CDC GDPinfo	348	Hs.515465			Human genetics. 2004 May;114(6):581-7	Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease		107741	16282	2	2004	Our results provide an important independent replication of previous findings, supporting the existence of CYP46A1 sequence variants that contribute to variability in beta-amyloid metabolism.	Case cases of Alzheimer's disease from three independent northern European case-control series;Control controls from three independent northern European case-control series		APOE	epsilon4	CYP46A1	rs754203			Y		CSF Abeta42 levels in Alzheimer's disease
117330	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Combarros, O.  et al. 2004	15286456				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):257-60	Genetic association of CYP46 and risk for Alzheimer's disease.		107741	16284	2	2004	Our results indicate that the intron 2 CYP46 C/C genotype may predispose to AD, and this association is independent of the apolipoprotein E genotype.	Control:315:controls;Case:321 sporadic Alzheimer's disease patients										
117331		personality traits	PSYCH	PSY		19	19q13.2	APOE	50100878	50104490		Elovainio, M.  et al. 2005	15312696				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Biological psychology. 2005 Jan;68(1):79-86	Does the level of LDL cholesterol moderate a relationship between DRD4 and novelty seeking?		107741	16408	2	2005	Our findings suggest that the genetic determination of temperament may be dependent on biological factors, such as LDL cholesterol.		cholesterol									
117327	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Schulte, T.  et al. 2003	12811635				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			J Neural Transm. 2003 Jul;110(7):749-55	Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease		107741	15950	2	2003	Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk.	Control:340:controls;Case:457 German Parkinson's disease patients		APOE	epsilon4	CTSD	T			Y		Parkinson's disease
117328	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia, Multi-Infarct|Dementia|Alzheimer Disease|Genetic Predisposition to Disease|Depressive Disorder	19	19q13.2	APOE	50100878	50104490		Heun, R.  et al. 2004	15211070				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Germany	CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2004 ;18(2):151-8	Contribution of Apolipoprotein E and Cathepsin D Genotypes to the Familial Aggregation of Alzheimer's Disease		107741	15951	2	2004	 Familial aggregation of late-onset AD is likely to be caused by several genetic risk factors. Variants of the apolipoprotein E and cathepsin D genes influenced the risk of AD in relatives of nondemented control subjects. The lack of an influence of these genotypes on the risk of AD in relatives of AD subjects may be the consequence of complementary reductions of other genetic risk factors such as various, yet unknown susceptibility genes in patients and, consequently, in their first-degree relatives.	Control:144 nondemented controls;Case:70 Alzheimer's disease casesand 1,420 first-degree:relatives										
117324		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490			16391475				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2006 ;21(3):139-43	The Brain-Derived Neurotrophic Factor Gene as a Possible Susceptibility Candidate for Alzheimer's Disease in a Chinese Population		107741	15439	2	2006				BDNF		APOE4	negative			Y		Alzheimer's disease
117325		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Hypertension	19	19q13.2	APOE	50100878	50104490		Assanelli, D.  et al. 2004	15554031				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Italian heart journal. 2004 Aug;5(8):604-11	Determinants of early-onset cardiovascular disease:a case-control study of young myocardial infarction patients.		107741	15607	2	2004	 On the basis of these results, we believe that acute coronary events in young subjects should be followed by a screening of their siblings, as they might be at higher risk for cardiovascular disease.	Case:48 subjects (age < 41 years) diagnosed with myocardial:infarction;Control:48										
117326		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Cathcart, H. M.  et al. 2005	15728313				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurology. 2005 Feb;64(4):755-7	Cystatin C as a risk factor for Alzheimer disease.		107741	15905	2	2005	A proportional odds model indicated that the CST 3	Case Alzheimer's disease patients;Control:controls		CST 3 A		APOE4				Y	ages older than 64 years	
117321	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Ozturk, A.  et al. 2005	16223550				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurobiology of aging. 2005	Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.		107741	15313	2	2005				CHAT	intron 9 SNP	APOE				Y	age-on-onset and MMSE score	
117322		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Borroni, B.  et al. 2005	16257094				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurobiology of aging. 2005	Genetic correlates of behavioral endophenotypes in Alzheimer disease: Role of COMT, 5-HTTLPR and APOEpolymorphisms.		107741	15314	2	2005												
117323	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Nacmias, B.  et al. 2004	15337270				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Sep;367(3):379-83	Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease		107741	15425	2	2004	Our data confirm a specific effect caused by the presence and amount of ApoE 4 allele, while they suggest that BDNF genetic variants are not a susceptibility factor to AD.	Cohort mild-moderate Alzheimer's disease (AD) cases 										
117318		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490			15880838				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(4):27-34	[ApoE genotype and efficacy of neurotrophic and cholinergic therapy in Alzheimer's disease]		107741	15309	2	2005	Patients with the ApoE4(+) genotype did not differ in response to either drug but in those with genotype ApoE4(-) the number of responders was 3-fold higher in the group treated with cerebrolysin compared to the group given exelon. A follow-up estimation of cognitive impairment in ApoE4(-) patients revealed that long-term clinical effect of cerebrolysin treatment was 6.5 times higher than that of exelon.	Case Alzheimer's disease cases on a 4-month treatment of:cerebrolysin;Control Alzheimer's disease cases on a 4-month treatment of:exelon	cerebrolysin exelon									
117319		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Myllykangas, L.  et al. 2005	16023140				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2005 Sep;236(2-Jan):17-24	Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study.		107741	15310	2	2005				BACE2	haplotype H5	BACE2	haplotype h7			Y		Alzheimer's disease
117320		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Martin, E. R.  et al. 2005	16199552				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of medical genetics. 2005 Oct;42(10):787-92	Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease.		107741	15312	2	2005	 This study suggests that VR22 or a nearby gene influences susceptibility to Alzheimer's disease, and the effect is dependent on APOE status.			APOE-4		VR22				Y	age	Alzheimer's disease
117315		posterior cortical atrophy	UNKNOWN	UNK	Dementia|Neurodegenerative Diseases|Perceptual Disorders|Atrophy	19	19q13.2	APOE	50100878	50104490		Tang-Wai, D. F.  et al. 2004	15477533				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurology. 2004 Oct;63(7):1168-74	Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy.		107741	15306	2	2004	 PCA is a distinctive dementia syndrome in which the most pronounced pathologic involvement is in the occipitoparietal regions independent of the specific underlying pathology. AD was the most common pathologic cause, but its regional distribution differed from typical AD.	Cohort 40 posterior cortical atrophy cases 										
117316	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Raygani, A. V.  et al. 2004	15519745				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Nov;371(3-Feb):142-6	Analysis of association between butyrylcholinesterase K variant and apolipoprotein E genotypes in Alzheimer's disease.		107741	15307	2	2004	We have found that BChE-K and ApoE-varepsilon4 alleles act synergistically to increase the risk of the late-onset AD, particularly in age group <75 years in Tehran, Iran.	Case:105 Alzheimer's disease patients:Iran;Control:129 age and sex matched controls										
117317		Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Zhang, W.  et al. 2005	15696482				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):61-4	[A rapid and high throughput method for apoE genotyping]		107741	15308	2	2005	 TDI-FP is an easy, reliable and high throughput technology in analyzing polymorphism of apoE gene; it can be used in the prediction of susceptibility to AD in elderly individuals. Furthermore, it is an ideal method for large-scale screening and for studying the relationship between the allelic and genotypic frequencies of apoE and other diseases.	Control:63 healthy individuals;Case:79 patients with Alzheimer's disease										
117313	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Santos, M.  et al. 2004	15124760				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Portuguese	Portugal	CDC GDPinfo	348	Hs.515465			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Apr;10(2):153-7	Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin.		107741	15303	2	2004	We did not observe an association of the epsilon4 or the 22 CAGs alleles with rate of progression in our total patient population; allele epsilon4 was associated with increased rate of progression of MS in a subset of patients with less than 10 years of the disease. However, globally in the Portuguese population, the APOE and SCA2 genes do not seem to be useful in the clinical context as prognostic markers of this disorder.	Control:192 healthy controls;Case:243 multiple sclerosis patients:Portugal										
117314		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Atrophy	19	19q13.2	APOE	50100878	50104490		Zakrzewska-Pniewska, B.  et al. 2004	15222689				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Polish		CDC GDPinfo	348	Hs.515465			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Jun;10(3):266-71	Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis.		107741	15305	2	2004	According to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.	Control:100 healthy controls;Case:117 Polish multiple sclerosis patients										
117309	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Wu, Y. N.  et al. 2001	12905860				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2001 Oct;23(5):450-4	[An association analysis of apolipoprotein E genotypes with Alzheimer's disease in Chinese population]		107741	15298	2	2001	 Our results are consistent with previous work in that proving the ApoE epsilon 4 allele is one of the risk factors of AD. The results also provide a support for the protection effect of ApoE epsilon 3 allele in developing AD.	Control healthy controls;Case:56 cases of Alzheimer's disease										
117310	N	dementia, vascular	PSYCH	PSY	Dementia, Vascular	19	19q13.2	APOE	50100878	50104490		Paradowski, B.  et al. 2003	14593964				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Polski merkuriusz lekarski. 2003 Jul;15(85):69-71	[Apolipoprotein E and tau protein in vascular dementia]		107741	15299	2	2003	The authors emphasize that ApoE e4 and tau protein level determination is not very useful in the differential diagnosis of dementia.	Control:controls;Case:33 patients with possible diagnosis of vascular:dementia										
117311	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Ma, Q. L.  et al. 2003	14720419				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Zhonghua yi xue za zhi. 2003 Dec;83(24):2124-7	[Association between NAD(P)H: quinoneoxidoreductase and apolipoprotein E gene polymorphisms in Alzheimer's disease]		107741	15300	2	2003	 NQO1 C609T may be an independent genetic risk factor for SAD in Chinese.	Control:108 normal controls;Case:92 Han nationality sporadic Alzheimer's disease:patients										
117306	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Eerola, J.  et al. 2002	12270650				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Finnish	Finland	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2002 Sep;330(3):296-8	Apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes and susceptibility to sporadic Parkinson's disease in Finland.		107741	15293	2	2002	None of these polymorphisms showed association with PD in our series. In contrast to reports in oriental populations, our results do not support a major role of APOE, PARKIN and COMT polymorphisms in PD susceptibility in the Finnish population.	Control:137:controls;Case:147 Finnish non-demented patients with sporadic PD										
117307		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Feuk, L.  et al. 2003	12497631			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Human mutation. 2003 Jan;21(1):53-60	Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.		107741	15294	2	2003	These results together with previous data suggest that a promoter marker in TNFRSF6 plays a moderate but demonstrable role in AD etiology.	Case:121 early-onset dementia cases;Control:152:controls		APOE	e4	promoter marker (TNFRSF6)				Y		Alzheimer's disease
117308	Y	diabetes, type 1; carotid atherosclerosis	IMMUNE	IMM	Carotid Artery Diseases|Arteriosclerosis|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Xiang, G.  et al. 2003	12579507				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):66-8	[Apolipoprotein E genotypes and carotid artery atherosclerosis in type 2 diabetes mellitus]		107741	15295	2	2003	 Apo e4 allele increases the risk for carotid artery atherosclerosis in the early stage of diabetic population.	Control:107 healthy individuals;Case:255 type 2 diabetes patients without angiopathy										
117304		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Freitas, E. M.  et al. 2002	11984219				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of cardiovascular risk. 2002 Feb;9(1):59-65	The poliovirus receptor related 2 (PRR2) and apolipoprotein E genes and coronary heart disease.		107741	15290	2	2002	 The relationship between the PRR2 Sau96I (A/G) polymorphism and early onset coronary artery disease may be due to linkage disequilibrium with the APOE gene and underrepresentation, or a protective effect, of the epsilon2 allele. Alternatively, since A allele homozygosity is particularly overrepresented, the relationship could be more direct, perhaps through a viral association.	Control:624 control subjects, aged 30-50 years, randomly selected from the community and without a history of CHD;Case:640 consecutive Caucasian patients < 50 years with angiographically documented coronary obstructive disease and/or with unequivocal myocardial:infarction		PRR2	Sau96I	APOE				Y		coronary heart disease
117305	Y	coronary artery disease	CARDIOVASCULAR	CARD	Alzheimer Disease|Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490		Nassar, B. A.  et al. 2002	12074828				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Clinical biochemistry. 2002 May;35(3):205-9	=>Author:Nassar, B. A. //Darvesh, S. //Bevin, L. D. //Rockwood, K. //Kirkland, S. A. //O'Neill, B. J. //Bata, I. R. //Johnstone, D. E. //Title, L. M.		107741	15291	2	2002	 Our study suggests that there is a minor association between BChE-K and early-onset CAD, especially in the presence of the APOE-epsilon 4 allele.	Case:150 patients with early-onset CAD (< 50 yr);Case:150 patients with late-onset CAD (>65 yr)										
117301		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Lehmann, D. J.  et al. 2001	11738493				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience. 2001 ;108(4):541-54	Using meta-analysis to explain the diversity of results in genetic studies of late-onset Alzheimer's disease and to identify high-risk subgroups		107741	15286	2	2001	This analysis leads to the identification of a	Case not defined in abstract;Control not defined in abstract										
117302	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Peng, D.  et al. 2001	11769724				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Oct;40(10):688-90	[Apolipoprotein E 4 gene is a risk factor for Alzheimer's disease]		107741	15287	2	2001	 AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made contribution to the heterogenicity of AD.	Case:107 patients with Alzheimer disease;Case:68 patients with vascular dementia;Control:74 sex- and age-matched non-demented healthy:individuals										
117303	Y	neuropathy, Alzheimer's disease related	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Ghebremedhin, E.  et al. 2002	11849755				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2002 Mar;320(2-Jan):25-8	Age-dependent association between butyrylcholinesterase K-variant and Alzheimer disease-related neuropathology in human brains.		107741	15288	2	2002	The results show that the association between BCHE-K and AD-related neuropathology only was limited to homozygotes for the K allele (P=0.036 for NFTs, and P=0.045 for A[beta]-deposits) at ages [greater-than-or-equal]70 years but not 50--69 years. Furthermore, no interaction was apparent between BCHE-K and ApoE.	Cohort 521 alzheimer's disease cases 		BCHE	K	APOE				N	age	Alzheimer disease related neuropathy
117298		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Kim, K. W.  et al. 2001	11445282				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean	Korea	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2001 Jul;308(1):45-8	Transferrin C2 variant does not confer a risk for Alzheimer's disease in Koreans.		107741	15283	2	2001	The TF C2 variant did not confer a risk for AD in Koreans.	Case:164 probable Alzheimer's disease (AD) patients:Korea;Control:239 cognitively normal elderly controls:Korea										
117299		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Ferrarese, C.  et al. 2001	11487204				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurological sciences. 2001 Feb;22(1):65-6	Decreased platelet glutamate uptake and genetic risk factors in patients with Parkinson's disease		107741	15284	2	2001	Genetic studies of this population did not show differences between PD and controls, nor correlations with platelet glutamate uptake.	Case:13 patients with parkinsonian syndromes;Control:28 not specified in abstracts;Case:38 sporadic Parkinson's disease cases										
117300	Y	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Van Everbroeck, B.  et al. 2001	11684342				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2001 Nov;313(2-Jan):69-72	Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype		107741	15285	2	2001	We found that methionine homozygosity of the PRNP129 increases the risk for developing CJD. PRNP129 also influenced the prion accumulation patterns in brain. The APOE 4 allele was an independent risk factor for developing CJD. We further observed a significant dose dependent APOE 4 effect on the number and type of amyloid-beta plaques in the brain of CJD patients.	Case:126 Creutzfeldt-Jakob disease patients;Control:79 age and sex matched control group										
117295	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Matsubara, M.  et al. 2001	11173882				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2001 Mar-Apr;12(2):106-9	Genetic association between Alzheimer disease and the alpha-synuclein gene.		107741	15280	2	2001	The results showed that the alpha-synuclein gene is associated with sporadic AD in women, independent of ApoE epsilon4 status.	Case:183 Japanese AD patients;Control:210 unspecified controls										
117296	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Paradowski, B.  et al. 2000	11204323				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Polski merkuriusz lekarski. 2000 Nov;9(53):758-9	[Apolipoprotein E(ApoE)and tau protein in Alzheimer type dementia]		107741	15281	2	2000	The authors emphasize the usefulness of tau protein level measurement and determination of ApoE allele in diagnosis of Alzheimer disease.	Control Not defined in abstract;Case:45 patients meeting NINCDS-ARDRA criteria for probably diagnosis of Alzheimer disease (AD)										
117297	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.2	APOE	50100878	50104490		Khan, N.  et al. 2001	11357958				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annals of neurology. 2001 May;49(5):665-8	Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype.		107741	15282	2	2001	We failed to confirm this association in a much larger sample of histopathologically proven cases of Parkinson's disease and controls.	Case:305 Parkinson's disease patients;Control:330 age and sex matched to cases, 175 without any abnormal histopathology of brain tissued samples, and 155 clinical cases with no parkinsonism										
117292	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Spell, C.  et al. 2004	15286454				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):245-9	SREBP-1a polymorphism influences the risk of Alzheimer's disease in carriers of the ApoE4 allele.		107741	14086	2	2004	This is the first report on a genetic factor which prevents the deleterious effect of the ApoE4 allele and thus reduces the risk of AD.	Cohort Alzheimer's disease cases 		APOE	4	SREBP	123a			Y		deleterious effect in Alzheimer's disease
117293	Y	memory decline	AGING	AGE	Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Jonker, C.  et al. 2000	11064931				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Tijdschrift voor gerontologie en geriatrie. 2000 Oct;31(5):198-202	[Apolipoprotein E4 and memory decline in the elderly]		107741	15278	2	2000	Contrary to AD studies, our study suggests that the risk of ApoE4 on memory decline does not decrease with ageing.	Cohort 1243 subjects, 62-85 years old, with a Mini-Mental State Examination (MMSE) score between 21-30 										
117294		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Alvarez-Arcaya, A.  et al. 2000	11125748				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Acta neurologica Scandinavica. 2000 Dec;102(6):350-3	The butyrylcholinesterase K variant is a protective factor for sporadic Alzheimer's disease in women.		107741	15279	2	2000	 Our study is the first to demonstrate that lower susceptibility to AD determined by the K variant of BCHE is dependent on gender.	Case:249 AD patients:Spain;Control:250 non-AD individuals from the same population:Spain		BCHE	K	APOE	epsilon4			Y		lowers susceptibility to Alzheimer's disease in women
117290		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Licastro, F.  et al. 2005	15653173			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	CDC GDPinfo	348	Hs.515465			Neurobiology of aging. 2005 Apr;26(4):449-53	A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease		107741	13611	2	2005	The ACT gene appears to influence the early clinical development of the disease, and the interaction of the ACT and APOE genes affects clinical progression of AD.	Cohort patients from northern Italy with a clinical diagnosis of probable Alzheimer's disease, and patients with early onset early onset Alzheimer's disease) from UK with Alzheimer's disease Italy and UK 		ACT	TT	APOE	epsilon 4			Y		Alzheimer's disease
117291	Y	lipoprotein; lipids	METABOLIC	MET	Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		Gertow, K.  et al. 2003	12818409				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2003 Apr;167(2):265-73	A common polymorphism in the fatty acid transport protein-1 gene associated with elevated post-prandial lipaemia and alterations in LDL particle size distribution.		107741	13769	2	2003	These findings suggest that through regulation of NEFA trafficking, FATP1 might play a role in post-prandial lipid metabolism and development of cardiovascular disease.	Cohort 628/426 healthy 50-year-old Swedish men(n=628) and Swedish women (n=426 ), aged 37-65 years Sweden 										
117286	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Jiang, S.  et al. 1999	11715411				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue za zhi. 1999 Aug;79(8):610-2	The association between microsatellite polymorphism of alpha 1-antichymotrypsin gene and Alzheimer's disease		107741	13604	2	1999	 AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.	Control:62 controls not otherwise specified in abstract;Case:63 Alzheimer's disease patients from Han population of Shanghai area:China										
117287		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.2	APOE	50100878	50104490		Hao, Y.  et al. 2001	11769703				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	CDC GDPinfo	348	Hs.515465			Zhonghua yi xue za zhi. 2001 Oct;81(19):1172-5	[Association between polymorphism of alpha 1-antichymotrypsin and apolipoprotein E gene and Parkinson's disease in Shanghai Hans]		107741	13605	2	2001	 The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.	Control:101 healthy elderly persons;Case:64 Parkinson's disease cases		AACT		AACT		APOE	epsilon 4	Y		Parkinson's disease
117288	N	sporadic inclusion body myositis	UNKNOWN	UNK	Myositis, Inclusion Body	19	19q13.2	APOE	50100878	50104490		Gossrau, G.  et al. 2004	15159602				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European neurology. 2004 ;51(4):215-20	Apolipoprotein E and Alpha-1-Antichymotrypsin Polymorphisms in Sporadic Inclusion Body Myositis		107741	13608	2	2004	Therefore, allelic variations of alpha(1)-ACT and ApoE are unlikely to be genetic key factors in the aetiology of s-IBM.	Cohort 35 sporadic inclusion body myositis patients 										
117283	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Ma, Q.  et al. 2000	11110974				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):390-4	[Analysis of the interaction of the polymorphisms of presenilin-1 gene and ApoE gene in Alzheimerns disease]		107741	13355	2	2000	 These results indicated that allele 2 of PS-1 gene and E(2) allele of ApoE gene might protect people from SAD, that allele 1 of PS-1 gene might increase the risk of the onset of SAD, and that the onset of SAD was not associated with the interaction of the polymorphisms of PS-1 gene and ApoE gene.	Control:73 normal controls;Case:75 patients with sporadic Alzheimer's disease										
117284	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Cui, T.  et al. 2000	11775232				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Chinese medical journal. 2000 Apr;113(4):340-4	Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease.		107741	13358	2	2000	 apoE epsilon 4 gene appears to be the strongest gene risk factor for late-onset AD and its apparent association between the IE1 G/G genotype and late-onset AD is a consequence of the association between the epsilon 4 and IE1 G/G genotype. The PS-1/1 genotype is weakly associated with late-onset AD.	Control age-matched controls;Case:42 Alzheimer's disease patients										
117285		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Matsubara-Tsutsui, M.  et al. 2002	12413003	4,752 C/T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Internal medicine (Tokyo, Japan). 2002 Oct;41(10):823-8	The 4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers.		107741	13360	2	2002	 The PSEN1 gene -4,752 C/T polymorphism modifies the risk for AD.	Case:189 Alzheimer's disease cases;Control:240:controls		PSEN1	"-4,752 C/T"	APOE	epsilon 4			Y		Alzheimer's disease
117281	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Uremia|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Asakimori, Y.  et al. 2003	12666069				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Japan	CDC GDPinfo	348	Hs.515465			American journal of kidney diseases. 2003 Apr;41(4):822-32	Effect of polymorphism of the endothelial nitric oxide synthase and apolipoprotein E genes on carotid atherosclerosis in hemodialysis patients.		107741	12793	2	2003	 This cross-sectional study showed a synergistic effect between the intron 4 polymorphism or T(-786)-->C polymorphism of the eNOS gene and the apoE polymorphism with respect to risk for carotid atherosclerosis in nondiabetic hemodialysis patients.	Cohort 163 hemodialysis patients with nondiabetic nephropathy 		eNOS		apoE				Y		carotid atherosclerosis
117282	N	Alzheimer's disease; Lewy body disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kalman, J.  et al. 2003	14639046				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Hungary	CDC GDPinfo	348	Hs.515465			Psychiatric genetics. 2003 Dec;13(4):201-4	The nitric oxide synthase-3 codon 298 polymorphism is not associated with late-onset sporadic Alzheimer's dementia and Lewy body disease in a sample from Hungary.		107741	12819	2	2003	The apoE status has been found to be independent from the NOS3 codon 298 polymorphism in the examined cohort. Despite the facts that NOS3 is associated with neuritic sprouting, and aberrant neuronal and glial expression of the same molecule has been found in NEUROLOGICALenerative diseases, it is unlikely that the polymorphism Glu/Asp of the NOS3 gene is involved in the development of LOAD and DLBD.	Case late-onset sporadic Alzheimer's dementia probands (LOAD), diffuse Lewy body dementia cases (DLBD):Hungary;Control:controls								N		
117279	Y	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Saarela, M. S.  et al. 2004	15337261				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Finland	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Sep;367(3):336-9	Interaction between matrix metalloproteinase 3 and the 4 allele of apolipoprotein E increases the risk of Alzheimer's disease in Finns		107741	12414	2	2004	In conclusion, our finding suggests that the MMP3 gene, especially together with APOE 4, may contribute to the development of AD.	Control:101 control patients;Case:97/52 Alzheimer's diease (n=97) and Parkinson's disease:(n=62) patients		MMP3	-1171 (5A/6A)	APOE	4			Y		Alzheimers Disease
117280	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Orlacchio, A.  et al. 2002	12419494				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2002 Nov;333(2):115-8	Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.		107741	12669	2	2002	No evidence of association was obtained between the two SNPs investigated in sporadic and familial AD cases under the stratification of currently known genetic risk factors including the apolipoprotein E (APOE), the presenilins and the beta-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE varepsilon 4 in the risk to develop the late onset sporadic form of AD. But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD.	Cohort an Italian population 		NCSTN		APOE	epsilon 4			N		Alzheimer's disease
117276		cerebral amyloid angiopathy; senile plaques	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490			16328515				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Acta neuropathologica. 2006 Jan;111(1):15-20	A 3'-UTR polymorphism in the oxidized LDL receptor 1 gene increases Abeta(40) load as cerebral amyloid angiopathy in Alzheimer's disease		107741	12232	2	2005												
117277		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Nishimura, A. L.  et al. 2005	16186632				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Brazil	CDC GDPinfo	348	Hs.515465			Journal of molecular neuroscience. 2005 ;27(2):213-7	Monoamine oxidase a polymorphism in brazilian patients: risk factor for late-onset Alzheimer'sdisease?		107741	12297	2	2005												
117278		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Helisalmi, S.  et al. 2004	15548496				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Finnish	Finland	CDC GDPinfo	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 2004 Dec;75(12):1746-8	Polymorphisms in neprilysin gene affect the risk of Alzheimer's disease in Finnish patients.		107741	12389	2	2004	 Taken together, these findings suggest that polymorphisms in the NEP gene increase risk for AD and support a potential role for NEP in AD.	Case:390 Alzheimer's disease patients;Control:468 cognitively healthy controls										
117274	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Hatanaka, Y.  et al. 2000	11076057				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	CDC GDPinfo	348	Hs.515465			Clinical genetics. 2000 Oct;58(4):319-23	Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population.		107741	12224	2	2000	These results support the possibility that ApoE and LRP may contribute to the development of AD.	Case:100 Japanese patients affected by late-onset Alzheimer's disease;Control:246 controls matched for age		APOE		LRP				Y		late onset Alzheimer's disease
117275	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Panza, F.  et al. 2004	15048651				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	CDC GDPinfo	348	Hs.515465			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):69-73	Regional European differences in allele and genotype frequencies of low density lipoprotein receptor-related protein 1 polymorphism in Alzheimer's disease		107741	12230	2	2004	No statistically significant differences in frequencies between LRP1 alleles and AD among APOE allele, age, or gender strata were found. Finally, comparing our results with the findings from other European populations, the LRP1 C allele frequency showed a statistically significant decreasing trend from Northern to Southern regions of Europe, with a concomitant increase in LRP1 T allele frequency, but in AD patients only. Finally, in the AD sample, a decreasing geographical trend from North to South of Europe was found for LRP1 CC genotype, and an inverse trend for LRP1 CT genotype frequency. We suggest that these regional variations in LRP1 genotype and allele frequencies in AD could be related to the different patterns of association between this polymorphism and the disease in various European studies.	Case:166 sporadic Alzheimer's disease patients southern Italy;Control:225 sex- and age-matched nondemented controls										
117271	Y	triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Foucher, C.  et al. 2004	15608561			intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Pharmacogenetics. 2004 Dec;14(12):823-9	Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes		107741	12188	2	2004	 These results indicate that elevated baseline TG levels and PPARA gene intron 7 G/G genotype were associated with TG reduction > 30% after fenofibrate treatment in patients with type 2 diabetes.	Cohort subjects with type 2 diabetes treated with micronized fenofibrate 	fenofibrate									
117272	Y	cholesterol; cholesterol, HDL; lipoprotein; lipids	METABOLIC	MET	Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490		Ayyobi, A. F.  et al. 2005	16039291				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2005 Aug;181(2):363-9	Cholesterol ester transfer protein (CETP) Taq1B polymorphism influences the effect of a standardized cardiac rehabilitation program on lipid risk markers.		107741	12191	2	2005												
117268	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Dhaenens, C. M.  et al. 2004	15364413				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Sep;368(3):290-2	Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease.		107741	12113	2	2004	No synergistic effects were found between the APOE epsilon4 allele and KNS2 gene polymorphisms.	Case:100 Alzheimer's disease brain patients;Control:103:controls										
117269		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Wang, C. H.  et al. 2004	15144588				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue za zhi. 2004 Apr;84(7):554-8	[Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease]		107741	12138	2	2004	 The carriers of epsilon 3, epsilon 4 or AvaII(+) alleles would have higher risk of suffering from CHD if they are drink alcohol or smoke heavily.	Case:146 Chinese Han coronary heart disease cases;Control:340:controls	alcohol anamnesis diet smoking (tobacco)									
117270		cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490		Lahoz, C.  et al. 2005	15931608				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Metabolism:  clinical and experimental. 2005 Jun;54(6):741-7	Baseline levels of low-density lipoprotein cholesterol and lipoprotein (a) and the AvaII polymorphism of the low-density lipoprotein receptor gene influence the response of low-density lipoprotein cholesterol to pravastatin treatment.		107741	12139	2	2005	We conclude that  baseline levels of LDL-C and lipoprotein (a) together with the Ava II polymorphism of the LDL-receptor gene have a significant influence on the LDL-C response to pravastatin treatment in patients monitored in a standard primary health care outpatient clinic setting.	Cohort 440 subjects with hypercholesterolemia (mean age, 57 years; 43% men) from 21 primary health care centers-outpatient clinics 	pravastatin									
117265	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Alvarez-Alvarez, M.  et al. 2003	12618306				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Spain	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Mar;339(1):85-7	5-Hydroxytryptamine 6 receptor (5-HT(6)) receptor and apolipoprotein E (ApoE) polymorphisms in patients with Alzheimer's disease in the Basque Country.		107741	11509	2	2003	In conclusion, the association of ApoE epsilon4 to AD in a sample of patients from the Basque Country is confirmed, though the association to C267T polymorphism of the 5-HT(6) receptor has not been observed.	Control:102 age and sex matched controls;Case:173 Alzheimer's disease cases Basque Country, Spain										
117266	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kan, R.  et al. 2004	15531082	C267T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Nov;372(2-Jan):27-9	Association of the HTR6 polymorphism C267T with late-onset Alzheimer's disease in Chinese.		107741	11510	2	2004	These data suggest that the HTR6 polymorphism C267T possibly involved in the susceptibility to LOAD as an APOE varepsilon4-allele independent risk factor of LOAD.	Case sporadic late-onset Alzheimer's disease cases:China;Control:controls		APOE	epsilon4	HTR6	C267T			Y		late-onset Alzheimer's disease
117267	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Bosco, P.  et al. 2004	15201366				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	CDC GDPinfo	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		107741	11748	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
117262	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Juhasz, A.  et al. 2005	16258842				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Hungary	CDC GDPinfo	348	Hs.515465			Neurochemical research. 2005 Aug;30(8):943-8	CYP46 T/C Polymorphism is not Associated with Alzheimer's Dementia in a Population from Hungary.		107741	10059	2	2005				APOE	varepsilon4	CYP46	2 T/C			N		Alzheimer's dementia in Hungarian population
117264		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Robson, K. J.  et al. 2004	15060098	C282Y			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European		CDC GDPinfo	348	Hs.515465			Journal of medical genetics. 2004 Apr;41(4):261-5	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.		107741	11019	2	2004	 We suggest that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of APOE4. Since 4% of Northern Europeans carry the two iron-related variants and since iron overload is a treatable condition, these results merit replication.	Case:191/69 cases with definite or probable AD (n=191) and with mild cognitive impairment (n=69) from the OPTIMA:cohort;Control:269 healthy elderly controls		TF	C2	HFE	C282Y	APOE	4	Y	iron	Alzheimer's disease
117259	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Borroni, B.  et al. 2004	15165699			intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurobiology of aging. 2004 Jul;25(6):747-51	Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from riskfactors to disease modulators		107741	10054	2	2004	These findings provide direct evidence that CYP46 and ApoE polymorphisms synergically increase the risk for AD development, and influence on the rate of cognitive decline.	Control:134 age- and gender-matched controls;Case:157 Alzheimer's disease patients		APOE	epsilon4	CYP46	C			Y		Alzheimer Disease
117260		cholesterol	METABOLIC	MET	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Vega, G. L.  et al. 2004	15975088				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Current Alzheimer research. 2004 Feb;1(1):71-7	The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins.		107741	10057	2	2004												
117261	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Tedde, A.  et al. 2005	16055229				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian		CDC GDPinfo	348	Hs.515465			Neurobiology of aging. 2005	Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.		107741	10058	2	2005										N		
117256		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Nacmias, B.  et al. 2005	16188386				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian		CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2006 Jan;392(2-Jan):110-3	Cystatin C and apoe polymorphisms in Italian Alzheimer's disease.		107741	9531	2	2005										N		Alzheimers disease
117257	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Sun, Y.  et al. 2005	15843343				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Yi chuan. 2005 Mar;27(2):190-4	[The C224T polymorphism in the cathepsin D gene is not associated with sporadic Alzheimer's disease in Chinese]		107741	9626	2	2005	We find no strong evidence of association between the CTSD C224T polymorphism and Chinese sporadic AD. Whereas there may be a weak synergistic interaction between ApoE epsilon4 and CTSD T allele.	Case Chinese sporadic Alzheimer's disease patients;Control age-matched controls		APOE	epsilon4	CTSD	T			Y	weak association	Alzheimer's disease in chinese population
117258		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Capurso, C.  et al. 2005	16127101	(C224T)			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European	Europe|Italy	CDC GDPinfo	348	Hs.515465			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Aug;60(8):991-6	The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations.		107741	9628	2	2005												
117253	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Finckh U  et al. 2000	11074789				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Archives of neurology. 2000 Nov;57(11):1579-83	Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease.		107741	9525	2	2000	 CST3 is a susceptibility gene for late-onset AD, especially in patients aged 75 years and older. To our knowledge, CST3 B is the first autosomal recessive risk allele in late-onset AD.	Case:260 AD patients from U Hosp Hamburg-Eppendorf, and 6476 from independent multicenter study:Germany;Control:390 age-matched, cognitively normal control subjects		CST3	B/B	APOE				Y	age (75 years or older)	late onset Alzheimers disease
117255	Y	Alzheimer's disease; dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Lin, C.  et al. 2003	14672279				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			The Chinese journal of physiology. 2003 Sep;46(3):111-5	The association of a cystatin C gene polymorphism with late-onset Alzheimer's disease and vascular dementia.		107741	9529	2	2003	These results suggest that CST3 might interact with APOE4 on conferring vascular pathologies.	Control:115 control individuals;Case:127/70 Alzheimer's disease (n=127) and vascular dementia:(n=70) cases		CST3		APOE4				Y	age (75 years and younger)	vascular dementia
117251		lipoprotein, LDL; lipids; preeclampsia; apolipoproteins	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Belo, L.  et al. 2004	14687732				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			European journal of obstetrics, gynecology, and reproductive biology. 2004 Jan;112(1):15-Sep	Apolipoprotein E and cholesteryl ester transfer protein polymorphisms in normal and preeclamptic pregnancies.		107741	9371	2	2004	 Neither of our candidate genes showed association with preeclampsia. However, apo E genotype was associated with changes in lipid and lipoprotein profiles in pregnant women.	Control:144 normal pregnant women (67 in the third trimester);Case:51 cases of preeclampsia in the third trimester of:gestation										
117252	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Crawford, F. C.  et al. 2000	10993992				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurology. 2000 Sep;55(6):763-8	A polymorphism in the cystatin C gene is a novel risk factor for late-onset Alzheimer's disease.		107741	9524	2	2000	 The reduced or absent risk for AD conferred by APOE in older populations has been well reported in the literature, prompting the suggestion that additional genetic risk factors confer risk for later-onset AD. In the author's dataset the opposite effects of APOE and CST3 genotype on risk for AD with increasing age suggest that CST3 is one of the risk factors for later-onset AD. Although the functional significance of this coding polymorphism has not yet been reported, several hypotheses can be proposed as to how variation in an amyloidogenic cysteine protease inhibitor may have pathologic consequences for AD.	Control:134 community-based controls;Case:309 clinic- and community-based cases of Alzheimer's:disease		CST3	GG	APOE	epsilon4			Y	age	Alzheimer's disease
117249		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Galimberti, D.  et al. 2004	15465089	Delta32ccr5			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2004 Oct;225(2-Jan):79-83	CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease.		107741	9203	2	2004	However, these findings must be cautiously interpreted as the overall significance was found without adjustment for multiple comparisons and is coming from the complete absence of the genotype 64I/64I in AD patients. Conversely, no different distribution of the CCR5Delta32 deletion in the two populations was shown. Stratifying by the presence of ApoE varepsilon4 allele, gender or age at onset, no differences in either allele frequencies were observed.	Control:222:controls;Case:290 Alzheimer's disease patients		MCP-1		RANTES		CCR2	64I	Y	gender and age of onset	Alzheimer's disease
117250		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Combarros, O.  et al. 2005	15854776				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		107741	9281	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
117246		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Menzel, H. J.  et al. 2004	15138483				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		107741	8946	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria		NQO1	P187S	TP53	R72P			Y		breast cancer
117247	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Rosenmann, H.  et al. 2003	12499050				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Israel	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Jan;336(2):101-4	A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease.		107741	8954	2	2003		Case Alzheimer's disease patients;Control:controls								N		
117248	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kim, K. W.  et al. 2000	11129109			intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean	Korea	CDC GDPinfo	348	Hs.515465			J Neural Transm. 2000 ;107(10):1191-200	No association between presenilin 1 (PS1) intronic polymorphism and sporadic Alzheimer's disease in Koreans.		107741	9077	2	2000	the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.	Case:100 sporadic AD patients:Korea;Control:199 normal elderly individuals:Korea										
117244	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Riemenschneider, M.  et al. 2002	12192623				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Germany	CDC GDPinfo	348	Hs.515465			Molecular psychiatry. 2002 ;7(7):782-5	A polymorphism of the brain-derived neurotrophic factor (BDNF) is associated with Alzheimer's disease in patients lacking the Apolipoprotein E epsilon4 allele		107741	8888	2	2002	The results suggest that the BDNF C-270T polymorphism is a relevant risk factor for AD particularly in patients lacking the ApoE epsilon4 allele in this German sample.	Cohort 188 cognitively healthy controls ;Case:210 patients with Alzheimer's disease										
117245	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Nishimura, A. L.  et al. 2004	14997020	C-270T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Brazil	CDC GDPinfo	348	Hs.515465			Journal of molecular neuroscience. 2004 ;22(3):257-60	Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.		107741	8900	2	2004	The possibility that other polymorphisms or mutations in this gene play a role in the development of AD cannot be ruled out. However, the results of the present study suggest that in opposition to the two reported studies, this polymorphism does not seem to be implicated in LOAD Brazilian patients. It also shows the importance of replication studies in different populations, as susceptibility loci might differ in different ethnic groups; this will have important implications in future treatments with pharmacological agents.	Control matched normal controls;Case:188 late onset Alzheimer's disease patients:Brazil										
117242		Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Athan, E. S.  et al. 2002	12433268			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Archives of neurology. 2002 Nov;59(11):1793-9	Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequenciesin Alzheimer disease		107741	8812	2	2002	 The -9G/C and +37G/C APP promoter polymorphisms are unlikely to contribute strongly to AD susceptibility or to cause major differences in APP expression, but the +37C allele warrants further study for association with AD in larger population samples.	Control elderly controls;Case:1013 people of white, African American, or Caribbean Hispanic ethnicity, 65 years and older New York City, NY, USA		APP	9G/C	APP	+37G/C			N		Alzheimers disease
117243	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kunugi, H.  et al. 2001	11244490				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Molecular psychiatry. 2001 Jan;6(1):83-6	A novel polymorphism of the brain-derived neurotrophic factor (BDNF) gene associated with late-onset Alzheimer's disease.		107741	8886	2	2001	Our results suggest that the C270T polymorphism of the BDNF gene or other unknown polymorphisms, which are in linkage disequilibrium, give susceptibility to late-onset AD. We obtained no evidence for the possible interactions between the BDNF and apolipoprotein E (APOE) genes, suggesting that the possible effect of the BDNF gene on the development of late-onset AD might be independent of the APOE genotype.	Case:170 patients with sporadic AD (51 early-onset and 119:late-onset);Control:498:controls		APOE		BDNF				N		late-onset Alzheimer's disease.
117239	Y	hypercholesterolemia; cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490		Kajinami, K.  et al. 2005	15910869			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Atherosclerosis. 2005 Jun;180(2):407-15	A promoter polymorphism in cholesterol 7alpha-hydroxylase interacts with apolipoprotein E genotype in the LDL-lowering response to atorvastatin.		107741	8802	2	2005	We concluded that the CYP7A1 A-204C promoter variant was associated with poor response to atorvastatin, which were additively enhanced by common variants in another locus, APOE.	Cohort 324 hypercholesterolemic patients treated with atorvastatin 	atorvastatin	CYP7A1	A-204C	APOE	epsilon2 or epsilon4			Y		response to atorvastatin for lowering LDL
117240		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Quan, W.  et al. 2005	16233903				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of the neurological sciences. 2006 Jan;240(2-Jan):71-5	Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease:A case-control study.		107741	8803	2	2005	 Our results fail to support an association of presenilin-2 gene polymorphism with Alzheimer's disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.									N		
117241		lipids	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Tsunoda, K.  et al. 2002	12495080				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Human biology; an international record of research. 2002 Oct;74(5):659-71	Apolipoprotein E and H polymorphisms in Mongolian Buryat: allele frequencies and relationship withplasma lipid levels		107741	8805	2	2002	No significant effects of the APOH genotypes on any of the plasma lipid levels were observed. In particular, our data regarding APOE suggest that the Buryat are genetically close in allele frequencies to the Evenki and Inuits, but differ from them in the association of genotype APOE*4/E*3 with cholesterol levels.	Cohort 125 healthy Buryat aged 17 to 73 years 										
117237		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Wang, P. N.  et al. 2004	15591802				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Taiwan	CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2005 ;19(3-Feb):120-5	Estrogen-metabolizing gene COMT polymorphism synergistic APOE epsilon4 allele increases the risk of Alzheimer disease.		107741	8799	2	2004	Further studies to clarify this interaction may improve our understanding of the generic risks for AD.	Case:66 patients with Alzheimer's disease;Control:86 age- and gender-matched normal subjects										
117238	N	Parkinson's disease; dementia; hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Hallucinations|Postmortem Changes	19	19q13.2	APOE	50100878	50104490		Camicioli, R.  et al. 2005	15852364				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Movement disorders. 2005 Aug;20(8):989-94	Apolipoprotein E epsilon4 and catechol-O-methyltransferase alleles in autopsy-proven Parkinson's disease: relationship todementia and hallucinations.		107741	8801	2	2005	In Cox regression models adjusting for AO and duration of treatment, increased risk of dementia was associated with male sex but not significantly with ApoE4; inclusion of AP in the model did not affect the results; COMT was not a risk factor for dementia. Psychosis risk was not associated with ApoE4, COMT, or sex. The observation that males have increased dementia risk and the trend for ApoE4 requires confirmation in larger prospective autopsy studies.	Cohort 47 autopsy-confirmed subjects (33 men, 14 women) with Parkinson's disease; onset at 62.4 +/- 8.7 years of age and died at 77.8 +/- 5.6 years of age 										
117234	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Seripa, D.  et al. 2004	15136700				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Wisconsin|Italy	CDC GDPinfo	348	Hs.515465			Neurology. 2004 May;62(9):1631-3	Alzheimer disease risk associated with APOE4 is modified by STH gene polymorphism.		107741	8793	2	2004	The STH-G allele appears to be a risk modifier for AD.	Cohort distinct groups of Alzheimer's patients from US and Italy 		APOE	4	STH	G			Y		Alzheimers disease
117235		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Kim, K. W.  et al. 2004	15276243				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2004 Aug;366(2):182-6	Choline acetyltransferase G +4 A polymorphism confers a risk for Alzheimer's disease in concert with Apolipoprotein E 4		107741	8795	2	2004	The ChAT AA is a novel genetic risk factor AD, and the SSVS is a useful approach for analyzing association with multiple candidate genes simultaneously.	Case:246 Alzheimer's disease patients;Control:561 non-demented controls										
117236		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Susceptibility	19	19q13.2	APOE	50100878	50104490		Liu, H. C.  et al. 2005	15383745				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Dementia and geriatric cognitive disorders. 2005 ;19(1):42-5	Association analysis for the muscarinic M1 receptor genetic polymorphisms and Alzheimer's disease.		107741	8797	2	2005	Our negative findings suggest that it is unlikely that the CHRM1 C267A polymorphism plays a substantial role in conferring susceptibility to AD. We propose that other genetic variations of CHRM1, relating either to AD or to the therapeutic response for AD, may need further investigation.	Control:169 normal controls;Case:232 Alzheimer's disease cases								N		
117231	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Anello, G.  et al. 2004	15073531				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroreport. 2004 Apr;15(5):859-61	Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease		107741	8790	2	2004	In conclusion, association of homocysteine with AD was aggravated by MTHFR 677 T and APOE epsilon4 alleles.	Case:180 Alzheimer's disease cases southern Italy;Control:181:controls										
117232	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Tang, M.  et al. 2004	15079806				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):176-8	[Analysis on association between the polymorphisms in apolipoprotein E, interleukin-1alpha genes and Alzheimer's disease in Chengdu area]		107741	8791	2	2004	 The APOE epsilon 4 allele was associated with moderate to severe AD while no association between the IL-1 alpha gene polymorphism and AD was found.	Control:113 healthy elderly individuals;Case:114 Alzheimer's disease patients:Chengdu, China										
117233	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Shi, J. J.  et al. 2004	15090300				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Di yi jun yi da xue xue bao. 2004 Apr;24(4):371-4	[Gln192Arg polymorphism of the paraoxonase-1 gene is not associated with Alzheimer's disease in Chinese]		107741	8792	2	2004	 Gln192Arg polymorphism of the PON1 gene is not associated with sporadic AD in Chinese.	Case:165 Chinese Alzheimer's disease patients;Control:174 age-matched control subjects										
117228		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Leininger-Muller, B.  et al. 2003	12946561				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Europe	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Oct;349(2):95-8	Myeloperoxidase G-463A polymorphism and Alzheimer's disease in the ApoEurope study.		107741	8783	2	2003	Our results support the hypothesis of a possible linkage disequilibrium between the MPO G-463A gene polymorphism and another functional variant involved in AD.	Control:246 controls from the ApoEurope Study;Case:265 Alzheimer's disease cases from the ApoEurope Study								N		Alzheimer's disease
117229	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Zhang, P.  et al. 2003	12951205				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2003 Oct;349(3):209-11	Association study between late-onset Alzheimer's disease and the transferrin gene polymorphisms in Chinese.		107741	8784	2	2003	No synergic effects were found between the APOE varepsilon 4 allele and TF gene polymorphisms.	Control:131 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients		APOE	varepsilon 4	TF				N		Alzheimer's disease
117230	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Chen, D.  et al. 2003	14986436				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Yi chuan xue bao. 2003 Dec;30(12):1167-70	[Apolipoprotein E gene polymorphisms and Alzheimer disease]		107741	8788	2	2003	As to epsilon 2 allele, its frequency was significantly lower in male subgroup than in female subgroup of AD patients and also than in male subgroup of normal control (P < 0.05), suggesting that epsilon 2 allele was possibly an AD protective factor in Chinese male population.	Case:160 Chinese Han Alzheimer's disease patients;Control:195 healthy controls										
117225	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2	APOE	50100878	50104490		Guerrero, A.  et al. 2003	12677480				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Spain	CDC GDPinfo	348	Hs.515465			Neurologia. 2003 Apr;18(3):146-8	[Apolipoprotein E polymorphism as a predictor of progression of multiple sclerosis]		107741	8778	2	2003	 In spite of the limitation due to the small number of patients studied, we cannot confirm that APOE e4 allele is a predictor of progression of disability in multiple sclerosis.	Cohort 42 patients with relapsing remitting or secondary progressive multiple sclerosis, and a disease duration of at least 2 years 										
117226	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Tang, G.  et al. 2003	12778455			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):244-6	[A study on the relation between the apolipoprotein E promoter -427C/T polymorphism and Alzheimer's disease]		107741	8781	2	2003	 ApoE -427C/T polymorphism was not a susceptibility factor for AD in this Han population in Shanghai.	Case:104 Chinese Han Alzheimer's disease cases:Shanghai;Control:110 healthy subjects										
117227	N	cholesterol, LDL; cholesterol, total	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Hubacek, J. A.  et al. 2003	12810154				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Czech		CDC GDPinfo	348	Hs.515465			Clinical biochemistry. 2003 Jun;36(4):263-7	Polymorphisms in CYP-7A1, not APOE, influence the change in plasma lipids in response to population dietary change in an 8 year follow-up; results from the Czech MONICA study.		107741	8782	2	2003	 Variation in the CYP-7A1 gene may play an important role in an individual's sensitivity to dietary composition.	Cohort 131 males for whom dietary composition markedly changed and total cholesterol decreased (from 6.21 +/- 1.31 mmol/L in 1988 - 5.43 +/- 1.06 mmol/L in 1996) over an 8 yr follow-up study 										
117222		frontotemporal lobar degeneration	NEUROLOGICAL	NEUR	Dementia|Tauopathies|Syndrome	19	19q13.2	APOE	50100878	50104490		Short, R. A.  et al. 2002	11939896				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Archives of neurology. 2002 Apr;59(4):611-5	Differences in tau and apolipoprotein e polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes		107741	8775	2	2002	 Clinical subtypes of FTLD have different tau and APOE genotype frequencies, suggesting these genes may influence the clinical presentation. Further studies should be performed to confirm this finding and to see if the pathologic phenotypes are also associated with different tau and APOE genotype frequencies.	Control:193 patients with Alzheimer's disease;Control:338 cognitively normal patients;Case:63 All patients with FTLD with available DNA specimens seen at the Mayo Clinic, Jacksonville, Fla:Florida		tau	H2 haplotype	APOE	epsilon4 positive					frontotemporal lobar degeneration
117224	N	Alzheimer's disease; NEUROLOGICALenerative disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Neurodegenerative Diseases	19	19q13.2	APOE	50100878	50104490		Nivet-Antoine, V.  et al. 2003	12604387				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annales de biologie clinique. 2003 Jan-Feb;61(1):61-7	[Apolipoprotein E and bleomycin hydrolase. Polymorphisms: association with NEUROLOGICALenerativediseases]		107741	8777	2	2003	No association has been observed between carrying the G allele and DTA in epsilon4 negative subjects	Case:65/52 late-onset sporadic Alzheimer's disease patients (n=65) and other non-vascular NEUROLOGICALenerative:diseases (n=52);Control:68 elderly control subjects										
117219		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bhojak, T. J.  et al. 2001	11502364				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2001 Aug;309(2):138-40	Genetic polymorphism in the cathepsin G gene and the risk of Alzheimer's disease.		107741	8770	2	2001	Our data show no effect of this cathepsin G polymorphism in AD. Characterization of additional polymorphisms in this gene may provide more conclusive answers.	Control:310 age-matched controls;Case:464 late-onset AD cases								N		
117220		triglycerides; cholesterol, total; apoA1; apoB; apoE	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Lahlali-Kacemi, N.  et al. 2002	11830396				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annales de biologie clinique. 2002 Jan-Feb;60(1):73-8	[Apolipoprotein E polymorphism in moroccan population: allele frequencies and relation toplasma lipid concentrations]		107741	8772	2	2002	Thus, the results demonstrate an influence of apo E alleles on serum cholesterol, triglycerides, apo E and apo B concentrations among healthy Moroccan.	Cohort 168 healthy Moroccan individuals (90 men and 78 women), aged from 20 to 50 years (32 9 years) Rabat, Morocco 										
117221		lipids	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Wangxinli,  et al. 1999	11939007				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Wei sheng yan jiu. 1999 Mar;28(2):76-8	[Apolipoprotein E polymorphism and its association with serum lipid level in Uygur nationalities from Xinjiang]		107741	8774	2	1999	It is concluded that the distribution of apoE genotypes and allele-frequencies was significantly different, but the trent for the relationship between apoE phenotype and lipid and lipoproteins was similar in the two nationalities.	Cohort 241 Individuals from Uygur nationalities (101 Uygurs and 140 Hans) 										
117216	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident	19	19q13.2	APOE	50100878	50104490		Topic, E.  et al. 2001	11388660				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Clinical chemistry and laboratory medicine. 2001 Apr;39(4):346-50	Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease.		107741	8766	2	2001	The preliminary results obtained in this study revealed an association of the MTHFR and APOE gene polymorphism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis in subjects having APOEepsilon3epsilon4 genotype. Additional studies in larger patient groups are needed to confirm these observations.	Control:124 age and sex matched healthy volunteers;Case:36 carotid stenosis patients;Case:56 stroke patients										
117217		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490		Pena, R.  et al. 2001	11412677				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Spanish		CDC GDPinfo	348	Hs.515465			Med Clin (Barc). 2001 May;116(18):681-5	[Apolipoprotein E polymorphism and coronary disease]		107741	8767	2	2001	In Spain, *4 carriers have a higher prevalence of coronary artery disease than no analysis *4 carriers.	Cohort 389 subjects with hypercholesterolemia who had been on a 6-weeks low fat, low cholesterol diet 										
117218		Alzheimer's Disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Mustafina, O. E.  et al. 2001	11421132				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Genetika. 2001 Apr;37(4):558-62	[Analysis of Apolipoprotein E gene polymorphism in populations of the Volgo-Ural region]		107741	8768	2	2001	The results obtained were compared with the literature data on the ApoE polymorphism in other world populations. Substantial heterogeneity of different ethnic populations in respect to the ApoE genotypes distribution and frequency was revealed.	Cohort populations of the Volga-Ural region Volga-Ural region 										
117213	Y	Down syndrome	OTHER	OTH	Down Syndrome|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Farrer MJ et al. 1997	9189907				apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ683419			KGB	348	Hs.515465	cognitive decline		Neuroreport	Allelic variability in D21S11 but not in APP or APOE is associated with cognitive decline in Down syndrome.		107741	842	1	1997												
117214		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	19	19q13.2	APOE	50100878	50104490		Eto, M.  et al. 2001	11347178				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese		CDC GDPinfo	348	Hs.515465			Nippon rinsho Japanese journal of clinical medicine. 2001 Mar;59 Suppl 3:807-11	[Apolipoprotein E epsilon 2 allele and diabetic nephropathy]		107741	8764	2	2001	Article in Japanese											
117215		lipoprotein; lipids	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Fan, P.  et al. 1999	11387943				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Hua xi yi ke da xue xue bao. 1999 Dec;30(4):373-4, 390	[Apolipoportein E polymorphism, serum lipids and apolipoproteins of 362 Han national subjects in Chengdu area]		107741	8765	2	1999	No significant difference was observed in TG, apoA I, apoC II, and apoC III levels among the apoE2, E3 and E4 groups (P > 0.05).	Cohort 268/94 males (n=268) and females (n=94) with a mean age of 43.7 +/- 12.3 yrs from a population of Han Nationality Chendu region, China 										
117210		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Araki S 2003	12882872				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	Y Wang	348	Hs.515465	Complications		Diabetes care. 2003 Aug;26(8):2416-20	APOE polymorphism and the progression of diabetic nephropathy in Japanese subjects with type 2 diabetes: results of a prospective observational follow-up study.		107741	839	1	2003	 Our follow-up study indicates that the epsilon2 allele of the APOE polymorphism is a prognostic risk factor for both the onset and the progression of diabetic nephropathy in Japanese type 2 diabetes.											
117211		preeclamptic pregnancies	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Belo L 2004	14687732				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			European journal of obstetrics, gynecology, and reproductive biology. 2004 Jan;112(1):15-Sep	Apolipoprotein E and cholesteryl ester transfer protein polymorphisms in normal and preeclamptic pregnancies.		107741	840	1	2004	 Neither of our candidate genes showed association with preeclampsia. However, apo E genotype was associated with changes in lipid and lipoprotein profiles in pregnant women.	Control:144 normal pregnant women (67 in the third trimester);Case:51 cases of preeclampsia in the third trimester of:gestation										
117212	Y	obesity	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipidemias|Obesity	19	19q13.2	APOE	50100878	50104490		Srinivasan SR et al. 2001	11398147				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Louisiana	KGB	348	Hs.515465			Metabolism:  clinical and experimental. 2001 Jun;50(6):696-702	Apolipoprotein E polymorphism modulates the association between obesity and dyslipidemias during young adulthood: The Bogalusa Heart Study.		107741	841	1	2001												
117207		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Boemi M 1993	8462771				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian		Y Wang	348	Hs.515465			Diabetologia. 1993 Mar;36(3):229-33	Gender differences in a type 2 (non-insulin-dependent) diabetic population with respect to apolipoprotein E phenotype frequencies.		107741	836	1	1993												
117208		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Boizel R 1998	9481718				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		Y Wang	348	Hs.515465	Complications		Nephrology, dialysis, transplantation. 1998 Jan;13(1):72-5	ApoE polymorphism and albuminuria in diabetes mellitus: a role for LDL in the development of nephropathy in NIDDM?		107741	837	1	1998	 It has been largely established that low-density lipoprotein (LDL)-cholesterol level in E2 allele carriers (whether diabetic or not) was lower than in E2 non-carriers. The 2-fold increase of nephropathy in E2 non-carriers with NIDDM argues for a role for LDL in the development of human nephropathy in NIDDM patients. This result is in agreement with previous data established both in vitro and in vivo in animal models. These findings support evidence for the pathogenic and morphologic similarities between kidney disease and atherosclerosis in NIDDM patients.											
117209		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Boemi M 2003	12662159				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian	Italy	Y Wang	348	Hs.515465			European journal of clinical investigation. 2003 Apr;33(4):296-300	Apolipoprotein E polymorphisms and mortality in Italian type 2 diabetic patients.		107741	838	1	2003	 Apolipoprotein E polymorphisms are not markers for premature mortality in Italian Type 2 diabetic patients. The impact of apolipoprotein E mutations may be attenuated by environmental factors, notably a healthier diet, in Italian patients.											
117204		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		del Pozo C 1988	3210824				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			Y Wang	348	Hs.515465			Med Clin (Barc). 1988 Sep;91(8):289-92	Polymorphism of apolipoprotein E in non-insulin dependent diabetes mellitus , trans Polimorfismo de la apolipoproteina E en la diabetes mellitus no insulinodependiente.		107741	833	1	1988												
117205		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Eto M 2002	12148096				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			Y Wang	348	Hs.515465	Complications		American journal of kidney diseases. 2002 Aug;40(2):243-51	Apolipoprotein E genetic polymorphism, remnant lipoproteins, and nephropathy in type 2 diabetic patients.		107741	834	1	2002	 Apo E2 is a positive factor and apo E4 is a negative factor for diabetic nephropathy. Apo E2 TG-rich lipoproteins, including remnant lipoproteins, affected HMCs. Remnant lipoproteins may have an important role in the progression of diabetic nephropathy.											
117206		hypertension	CARDIOVASCULAR	CARD	Brain Diseases|Cerebrovascular Disorders|Hypertension	19	19q13.2	APOE	50100878	50104490		de Leeuw FE 2004	15060316				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Netherlands	KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 2004 May;35(5):1057-60	Interaction between hypertension, apoE, and cerebral white matter lesions.		107741	835	1	2004	 apoE epsilon4 carriers are at increased risk for WMLs if they suffer from hypertension as well. This may reflect a diminished capacity for neuronal repair in apoE epsilon4 carriers.											
117201	Y	life expectancy	AGING	AGE		19	19q13.2	APOE	50100878	50104490		Ewbank DC04	14718482				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European		KGB	348	Hs.515465			The journals of gerontology Series A, Biological s	The APOE gene and differences in life expectancy in Europe.		107741	830	1	2004												
117202		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Mental Disorders	19	19q13.2	APOE	50100878	50104490		Gochee PA 2004	14709760	APOE4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Psychosomatics. 2004 Jan-Feb;45(1):49-57	Association between apolipoprotein E epsilon4 and neuropsychiatric symptoms during interferon alpha treatment for chronic hepatitis C.		107741	831	1	2004												
117203		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		Eto M 86	3770314				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			Y Wang	348	Hs.515465			Diabetes. 1986 Dec;35(12):1374-82	Apolipoprotein E polymorphism and hyperlipemia in type II diabetics.		107741	832	1	1986												
117198	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	19	19q13.2	APOE	50100878	50104490		Hefler L 2004	14706682	E2/E3/E4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		107741	827	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
117199		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Hsieh MC 2002	12243365	APOE2			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Taiwan	Y Wang	348	Hs.515465	Complications		Journal of nephrology. 2002 Jul-Aug;15(4):368-73	Higher frequency of apolipoprotein E2 allele in type 2 diabetic patients with nephropathy in Taiwan.		107741	828	1	2002	 These findings imply that apo E polymorphism is apparently related to the development of DN in type 2 diabetes in Taiwan.											
117200		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Guangda X 2003	12739024				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	China	Y Wang	348	Hs.515465	Complications		Diabetologia. 2003 Apr;46(4):514-9	Apolipoprotein e4 allele and endothelium-dependent arterial dilation in Type 2 diabetes mellitus without angiopathy.		107741	829	1	2003												
117195		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Kim JH 1997	9056109				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean		Y Wang	348	Hs.515465	Complications		Clinical biochemistry. 1997 Feb;30(1):47-52	Apolipoprotein E genotyping and phenotyping in type II diabetes mellitus patients with hypertriglyceridemia.		107741	824	1	1997	 Our findings could not support the association between apo E polymorphism and hypertriglyceridemia among type II DM patients.											
117196	N	glaucoma	VISION	VIS	Glaucoma	19	19q13.2	APOE	50100878	50104490		Lake S 2004	15031162				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The British journal of ophthalmology. 2004 Apr;88(4):491-3	Normal tension glaucoma is not associated with the common apolipoprotein E gene polymorphisms.		107741	825	1	2004	 ApoE gene polymorphisms are not linked to normal tension glaucoma, suggesting that this gene does not have a role in the pathogenesis of optic neuropathy in this disease.											
117197		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Kamboh MI1995	7772075				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Colorado	Y Wang	348	Hs.515465	Complications		Atherosclerosis. 1995 Jan;112(2):145-59	The relationship of APOE polymorphism and cholesterol levels in normoglycemic and diabetic subjects in a biethnic population from the San Luis Valley, Colorado.		107741	826	1	1995												
117192		dementia	PSYCH	PSY	Cerebrovascular Accident|Dementia|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Luchsinger JA 2004	15066068				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		New York City	KGB	348	Hs.515465	alcohol intake		Journal of the American Geriatrics Society. 2004 Apr;52(4):540-6	Alcohol intake and risk of dementia.		107741	821	1	2004	 Consumption of up to three servings of wine daily is associated with a lower risk of AD in elderly individuals without the APOE epsilon-4 allele.											
117193		Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Luthra K 2004	14739533				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	caucasian	India	KGB	348	Hs.515465			Dementia and geriatric cognitive disorders. 2004 ;17(3):132-5	Apolipoprotein E gene polymorphism in Indian patients with Alzheimer's disease and vascular dementia.		107741	822	1	2004												
117194		blood lipids and maximal oxygen uptake	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Leon AS 2004	14681851				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Metabolism:  clinical and experimental. 2004 Jan;53(1):108-16	Association of apolipoprotein E polymorphism with blood lipids and maximal oxygen uptake in the sedentary state and after exercise training in the HERITAGE family study.		107741	823	1	2004												
117189	Y	anticholinergic challenge-induced memory impairment	AGING	AGE	Memory Disorders	19	19q13.2	APOE	50100878	50104490		Pomara N 2004	14735126	APOE4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465	cognitive sensitivity to trihexyphenidyl		Neuropsychopharmacology. 2004 Feb;29(2):403-9	Increased anticholinergic challenge-induced memory impairment associated with the APOE-epsilon4 allele in the elderly: a controlled pilot study.		107741	818	1	2004												
117190		glaucoma	VISION	VIS	Glaucoma, Open-Angle	19	19q13.2	APOE	50100878	50104490		Ressiniotis T 2004	14769603				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Archives of ophthalmology. 2004 Feb;122(2):258-61	The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma.		107741	819	1	2004	 In our cohort, the APOE genotype does not constitute a risk factor for developing POAG, even in patients with normal-tension glaucoma.Clinical Relevance Apolipoprotein E polymorphisms do not appear to be contributory to POAG.											
117191		smoking	OTHER	OTH	Brain Ischemia|Cerebrovascular Accident	19	19q13.2	APOE	50100878	50104490		Pezzini A 2004	14726545				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 2004 Feb;35(2):438-42	Synergistic effect of apolipoprotein E polymorphisms and cigarette smoking on risk of ischemic stroke in young adults.		107741	820	1	2004	 In young adults, the APOE epsilon4 allele and cigarette smoking act synergistically, increasing an individual's propensity to have a cerebral ischemic event. This finding may help in determining an individual's predisposition to stroke and more targeted preventive interventions.											
117186		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Macular Edema|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Santos A 2002	11910554				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Mexico	Y Wang	348	Hs.515465	macular edema		Ophthalmic genetics. 2002 Mar;23(1):13-9	The epsilon4 allele of apolipoprotein E gene is a potential risk factor for the severity of macular edema in type 2 diabetic Mexican patients.		107741	815	1	2002	 Our results suggest that the epsilon4 allele of the ApoE gene is a potential risk factor for the severity of retinal hard exudates and visual loss in type 2 diabetic Mexican patients with diabetic retinopathy.											
117187		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Shriver MD 1991	1999275				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Mexican-American	Mexico|Texas	Y Wang	348	Hs.515465			Diabetes. 1991 Mar;40(3):334-7	Frequency and effects of apolipoprotein E polymorphism in Mexican-American NIDDM subjects.		107741	816	1	1991	We conclude that  the effects of the apoE polymorphism on lipid profiles and glucose levels are the same in NIDDM subjects as in nondiabetic Mexican Americans and other populations. Other studies investigating the role of apoE polymorphism in diabetic subjects have found increased triglyceride levels in individuals possessing an epsilon 2-allele and an increased frequency of the epsilon 2-allele in hyperlipidemic diabetic subjects. We found no significant difference in mean triglyceride levels among genotypes. Possible reasons for this discrepancy are discussed, including DNA- versus protein-typing methods.											
117188		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Reznik Y 2002	12200750				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			Y Wang	348	Hs.515465	Complications		Metabolism:  clinical and experimental. 2002 Sep;51(9):1088-92	The effect of age, body mass index, and fasting triglyceride level on postprandial lipemia is dependent on apolipoprotein E polymorphism in subjects with non-insulin-dependent diabetes mellitus.		107741	817	1	2002												
117183		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Werle E 1998	9614620				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Germany	Y Wang	348	Hs.515465	Complications		Diabetes care. 1998 Jun;21(6):994-8	Apolipoprotein E polymorphism and renal function in German type 1 and type 2 diabetic patients.		107741	812	1	1998	 Apo E polymorphism influences serum lipoprotein levels in patients with IDDM and NIDDM. Apo E polymorphism may be a renal risk factor of clinical relevance in normolipidemic patients with IDDM.											
117184		diabetes, type 1	IMMUNE	IMM	Hyperlipoproteinemia Type III|Diabetes Mellitus, Type 1	19	19q13.2	APOE	50100878	50104490		Winocour PH 2004	2712862				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			Y Wang	348	Hs.515465			Atherosclerosis. 1989 Feb;75(3-Feb):167-73	Apolipoprotein E polymorphism and lipoproteins in insulin-treated diabetes mellitus.		107741	813	1	2004												
117185		age-related macular degeneration	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490		van Leeuwen R 2004	15059717				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465	cholesterol		American journal of ophthalmology. 2004 Apr;137(4):750-2	Cholesterol and age-related macular degeneration: is there a link?		107741	814	1	2004	 Elevated HDL but not total cholesterol is associated with an increased risk of AMD. Apolipoprotein E genotype does not explain this association but may be an effect modifier.											
117180		aneurysmal subarachnoid hemorrhage.	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage	19	19q13.2	APOE	50100878	50104490		Tang J 2003	14572957				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Surgical neurology. 2003 Nov;60(5):391-6; discussion 396-7	Apolipoprotein E epsilon4 and the risk of unfavorable outcome after aneurysmal subarachnoid hemorrhage.		107741	809	1	2003	 Our findings confirmed that the patients with APOE-E4 allele were predisposed to unfavorable outcomes after aneurysmal SAH even though an association between APOE and incidence of the SAH may not exist. The effect of APOE on neurobiology and lipoprotein metabolism seems to partially explain the difference in outcomes and deserves further study.											
117181	N	multiple sclerosis.	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2	APOE	50100878	50104490	n	Savettieri G 2003	14504972				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neurology. 2003 Sep;250(9):1094-8	Apolipoprotein E genotype does not influence the progression of multiple sclerosis.		107741	810	1	2003	 In our population the APOE epsilon4 allele and the -491 A/T APOE promoter polymorphism are not associated with a more rapid course of MS.											
117182		bile lipid composition and cholesterol gallstone	METABOLIC	MET	Cholelithiasis	19	19q13.2	APOE	50100878	50104490		Hasegawa K 2003	12873586				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The American journal of gastroenterology. 2003 Jul;98(7):1605-9	Effect of apolipoprotein E polymorphism on bile lipid composition and the formation of cholesterol gallstone.		107741	811	1	2003	 The apoE4 allele is not a contributory factor to cholesterol gallstone formation, at least in the Japanese population.											
117177		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Pritchard J 2003	12810796				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 2003 Jul;74(7):971-3	Apolipoprotein E genotypes and clinical outcome in Guillain-Barre syndrome.		107741	806	1	2003	 APOE genotype did not influence susceptibility to Guillain-Barr??yndrome or recovery from it. This may be because our sample size of 91 was not sufficiently large to detect small differences in recovery associated with different APOE genotypes, or because cholesterol transportation is not a crucial rate limiting step in peripheral nerve regeneration.											
117178		Brain aging	AGING	AGE		19	19q13.2	APOE	50100878	50104490		Elwan O 2003	12767492				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of the neurological sciences. 2003 Jul;211(2-Jan):15-22	Brain aging in normal Egyptians: cognition, education~~~ personality~~~ genetic and immunological study.		107741	807	1	2003												
117179		high-monounsaturated fatty acid diet	METABOLIC	MET	Body Weight	19	19q13.2	APOE	50100878	50104490		Couture P 2003	14624406				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Metabolism:  clinical and experimental. 2003 Nov;52(11):1454-9	Influences of apolipoprotein E polymorphism on the response of plasma lipids to the ad libitum consumption of a high-carbohydrate diet compared with a high-monounsaturated fatty acid diet.		107741	808	1	2003												
117174		angiographic coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Chen Q 2003	12860263				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Atherosclerosis. 2003 Jul;169(1):159-67	APOE polymorphism and angiographic coronary artery disease severity in the Women's Ischemia Syndrome Evaluation (WISE) study.		107741	803	1	2003												
117175		lipoprotein distribution of ApoC-I	METABOLIC	MET	Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		Cohn JS 2003	12860251			5'promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Canada|France	KGB	348	Hs.515465			Atherosclerosis. 2003 Jul;169(1):63-70	Plasma concentration and lipoprotein distribution of ApoC-I is dependent on ApoE genotype rather than the Hpa I ApoC-I promoter polymorphism.		107741	804	1	2003												
117176	Y	schizophrenia	PSYCH	PSY	Nutrition Disorders|Schizophrenia	19	19q13.2	APOE	50100878	50104490		Liu W 2003	12837518				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	chinese		KGB	348	Hs.515465			Schizophrenia research. 2003 Aug;62(3):225-30	Association of APOE gene with schizophrenia in Chinese: a possible risk factor in times of malnutrition.		107741	805	1	2003	We suggest that APOE may operate as an additional risk factor for schizophrenia in individuals subjected to fetal and/or early postnatal malnutrition.											
117171		familial combined hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	19	19q13.2	APOE	50100878	50104490		Reiber I 2003	12915220				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The Journal of nutritional biochemistry. 2003 Jul;14(7):394-400	Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms.		107741	800	1	2003												
117172		synaptogenesis and memory.	OTHER	OTH	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Levi O 2003	12901842				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurobiology of disease. 2003 Aug;13(3):273-82	ApoE4 impairs hippocampal plasticity isoform-specifically and blocks the environmental stimulation of synaptogenesis and memory.		107741	801	1	2003												
117173		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Pastor P 2003	12891668				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Colombia	KGB	348	Hs.515465			Annals of neurology. 2003 Aug;54(2):163-9	Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.		107741	802	1	2003												
117168		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting	19	19q13.2	APOE	50100878	50104490		Niino M 2003	12926843				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	KGB	348	Hs.515465			Multiple sclerosis (Houndmills, Basingstoke, England). 2003 Aug;9(4):382-6	Polymorphisms of apolipoprotein E and Japanese patients with multiple sclerosis.		107741	797	1	2003												
117169	Y	type III hyperlipoproteinemia	METABOLIC	MET	Hyperlipoproteinemia Type III|Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		Kypreos KE 2003	12924933				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Biochemistry. 2003 Aug;42(33):9841-53	Molecular mechanisms of type III hyperlipoproteinemia: The contribution of the carboxy-terminal domain of ApoE can account for the dyslipidemia that is associated with the E2/E2 phenotype.		107741	798	1	2003												
117170		plasma lipid levels	METABOLIC	MET	Body Weight	19	19q13.2	APOE	50100878	50104490		Garces C 2003	12915699				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	prepubertal children	Spain	KGB	348	Hs.515465			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3997-4000	Effects of dehydroepiandrosterone-sulfate on the Apo E genotype influence on plasma lipid levels in prepubertal children.		107741	799	1	2003												
117165	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Parra-Bonilla G 2003	12951193	(-219T/G, -491A/T and -427T/C		5'promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Colombia	KGB	348	Hs.515465			Neuroscience letters. 2003 Oct;349(3):159-62	Haplogroup analysis of the risk associated with APOE promoter polymorphisms (-219T/G, -491A/T and -427T/C) in Colombian Alzheimer's disease patients.		107741	794	1	2003												
117166	Y	dementia	CARDIOVASCULAR	CARD	Dementia|Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Kuller LH 2003	12938070				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		United States	KGB	348	Hs.515465			Revista de neurologia. 2003 Jul;37(2):122-6	Risk factors for dementia in the Cardiovascular Health Study cognition study , trans Factores de riesgo de la demencia en el Cardiovascular Health Study Cognition Study.		107741	795	1	2003												
117167		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Luo B 2003	12935416				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Chinese medical journal. 2003 Aug;116(8):1220-2	Apolipoprotein E genotype in patients with Alzheimer's disease.		107741	796	1	2003	 The 462C/G polymorphism might be a specific genotype in Chinese patients with sporadic AD.											
117162		depression	PSYCH	PSY	Cerebrovascular Disorders	19	19q13.2	APOE	50100878	50104490		Steffens DC 2003	14512206				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465	subcortical vascular lesions		Biological psychiatry. 2003 Oct;54(7):674-81	Apolipoprotein E genotype and subcortical vascular lesions in older depressed patients and control subjects.		107741	791	1	2003	 These results are consistent with previous reports linking cerebrovascular disease and APOE genotype. Further studies are needed to replicate this finding in elderly depressive individuals and to explain the relationship between the APOE locus and development of central nervous system vascular pathology.											
117163		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.2	APOE	50100878	50104490		Dean B 2003	13129656				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Biological psychiatry. 2003 Sep;54(6):616-22	Increased levels of apolipoprotein E in the frontal cortex of subjects with schizophrenia.		107741	792	1	2003	 These data support the hypothesis that increased levels of apoE may be associated with the pathology of schizophrenia and that antipsychotic drugs decrease apoE levels as part of their therapeutic actions.											
117164	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Yang JD 2003	12962909			5'promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	chinese		KGB	348	Hs.515465			Neuroscience letters. 2003 Oct;350(1):25-8	Apolipoprotein E -491 promoter polymorphism is an independent risk factor for Alzheimer's disease in the Chinese population.		107741	793	1	2003	So in the Chinese population only APOE -491 promoter alleles confer significant risk of AD independent of varepsilon 4 status.	Control:133:controls;Case:183 Chinese definite and probable Alzheimer's disease:cases										
117159		subjective quality of life	OTHER	OTH	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Blazer DG 2003	14594022				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of aging and health. 2003 Nov;15(4):645-60	APOE epsilon4 as a predictor of subjective quality of life in a biracial older person community sample.		107741	788	1	2003												
117160		glioblastoma	CANCER	CAN	Glioblastoma|Brain Neoplasms	19	19q13.2	APOE	50100878	50104490		Nicoll JA 2003	14561921				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroreport. 2003 Oct;14(15):1923-6	Involvement of apolipoprotein E in glioblastoma: immunohistochemistry and clinical outcome.		107741	789	1	2003												
117161	Y	traumatic brain injury.	OTHER	OTH	Brain Injuries	19	19q13.2	APOE	50100878	50104490		Chiang MF 2003	14520543				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Acta neurochirurgica. 2003 Aug;145(8):649-53; discussion 653-4	Association between apolipoprotein E genotype and outcome of traumatic brain injury.		107741	790	1	2003												
117156	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Hirashiki A 2003	14563588	219G3T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese Low risk men	Japan	KGB	348	Hs.515465			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		107741	785	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
117157	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Hirashiki A 2003	14563588	3932T3C (Cys112Arg)			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese high risk women	Japan	KGB	348	Hs.515465			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		107741	786	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
117158	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	Hirashiki A 2003	14563588	4070C3T (Arg158Cys)			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	KGB	348	Hs.515465			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		107741	787	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
117153	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Bullido MJ et al. 1998	9425904			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Nature genetics. 1998 Jan;18(1):69-71	A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia.		107741	782	1	1998												
117154	N	Severe Malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	Aucan C et al. J Med Genet 2004; 41: 21-24	14729824			coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Gambia	Gambia	Christophe Aucan	348	Hs.515465	Cerebral Malaria, Severe Malarial Anaemia, Mild Malaria		Journal of medical genetics. 2004 Jan;41(1):21-4	Common apolipoprotein E polymorphisms and risk of clinical malaria in the Gambia		107741	783	1	2004		Case:530; Control:560										
117155		mild dyslipidemia	OTHER	OTH	Hyperlipidemias	19	19q13.2	APOE	50100878	50104490		Minnich A et al. 1995	7706948				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of lipid research. 1995 Jan;36(1):57-66	Identification and characterization of a novel apolipoprotein E variant apolipoprotein E3' (Arg136-->His): association with mild dyslipidemia and double pre-beta very low density lipoproteins.		107741	784	1	1995												
117150	N	familial age-related macular degeneration.	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490	n	Schultz DW et al. 2003	12742846				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Archives of ophthalmology. 2003 May;121(5):679-83	Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration.		107741	779	1	2003	 No evidence was found to support an association between AMD in medium to large families and the epsilon 4 or epsilon 2 alleles of APOE. Neither was any evidence found for an association of APOE polymorphisms with the set of unrelated patients with AMD. However, a trend for a decreased risk of AMD associated with APOE epsilon 4 was observed in the set of unrelated patients with a family history of AMD.											
117151	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Bullido MJ et al. 2000	10961667				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 2000 Aug;289(3):213-6	Alzheimer's risk associated with human apolipoprotein E alpha-2 macroglobulin and lipoprotein receptor related protein polymorphisms: absence of genetic interactions and modulation by gender.		107741	780	1	2000												
117152	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Town T et al. 1998	9756330			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1998 Aug;252(2):95-8	The -491A/T apolipoprotein E promoter polymorphism association with Alzheimer's disease: independent risk and linkage disequilibrium with the known APOE polymorphism.		107741	781	1	1998												
117147		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.2	APOE	50100878	50104490		Hong CJ et al. 2000	11096331				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuropsychobiology. 2000 ;42(4):172-4	Association study of apolipoprotein E epsilon4 with clinical phenotype and clozapine response in schizophrenia.		107741	776	1	2000												
117148	N	familial and sporadic frontotemporal dementia	NEUROLOGICAL	NEUR	Dementia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	Kowalska A et al. 2001	11598310				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Japan|Poland	KGB	348	Hs.515465			Dementia and geriatric cognitive disorders. 2001 Nov-Dec;12(6):387-92	Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4.		107741	777	1	2001												
117149	Y	endogenous hypertriglyceridemia and familial hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II|Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Dallongeville J et al. 1991	1998645				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Arteriosclerosis and thrombosis. 1991 Mar-Apr;11(2):272-8	Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia.		107741	778	1	1991												
117144	Y	Familial dysbetalipoproteinemia	OTHER	OTH	Hyperlipoproteinemia Type III|Body Weight	19	19q13.2	APOE	50100878	50104490		de Knijff P et al. 1991	1864973				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The Journal of clinical investigation. 1991 Aug;88(2):643-55	Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree.		107741	773	1	1991	We conclude that  in APOE*3-Leiden allele carriers FD is dominantly inherited with a high rate of penetrance, i.e., the presence of normally functioning apoE molecules in the plasma does not prevent the age-related expression of this disease.											
117145	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Lambert JC et al. 2000	10587578			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Human molecular genetics. 2000 Jan;9(1):57-61	Independent association of an APOE gene promoter polymorphism with increased risk of myocardial infarction and decreased APOE plasma concentrations-the ECTIM study.		107741	774	1	2000												
117146		atherosclerotic disease	CARDIOVASCULAR	CARD	Arteriosclerosis|Hyperlipoproteinemia Type III	19	19q13.2	APOE	50100878	50104490		Young SG et al. 1984	6480826				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The Journal of clinical investigation. 1984 Oct;74(4):1229-37	New mutants of apolipoprotein E associated with atherosclerotic diseases but not to type III hyperlipoproteinemia.		107741	775	1	1984												
117141		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		van Duijn CM et al. 1995	7703749				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Netherlands	KGB	348	Hs.515465	smoking		BMJ (Clinical research ed). 1995 Mar;310(6980):627-31	Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease.		107741	770	1	1995												
117142	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Lannfelt L et al. 1994	8047277				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1994 Mar;169(2-Jan):175-8	Lack of association between apolipoprotein E allele epsilon 4 and sporadic Alzheimer's disease.		107741	771	1	1994												
117143	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kang DE et al. 1997	9222170				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 1997 Jul;49(1):56-61	Genetic association of the low-density lipoprotein receptor-related protein gene (LRP) an apolipoprotein E receptor with late-onset Alzheimer's disease.		107741	772	1	1997												
117138		cardiovascular	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490		Srinivasan SR et al. 1993	8487659				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Metabolism:  clinical and experimental. 1993 Mar;42(3):381-6	Apolipoprotein E polymorphism and its association with serum lipoprotein concentrations in black versus white children: the Bogalusa Heart Study.		107741	767	1	1993												
117139	Y	diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Ha SK et al. 1999	10489223				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Nephrology, dialysis, transplantation. 1999 Sep;14(9):2144-9	Association between apolipoprotein E polymorphism and macroalbuminuria in patients with non-insulin dependent diabetes mellitus.		107741	768	1	1999	 Apo epsilon2 allele and epsilon2 carrier frequencies were significantly higher in macroalbuminuria group. These results suggest that epsilon2 allele may be associated with the development of clinical albuminuria in Korean patients with NIDDM.											
117140		memory impairment	AGING	AGE	Memory Disorders	19	19q13.2	APOE	50100878	50104490		Bartres-Faz D et al. 2001	11714102				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurogenetics. 2001 Oct;3(4):215-9	APOE and APOC1 genetic polymorphisms in age-associated memory impairment.		107741	769	1	2001												
117136	Y	differential expansion rates of small abdominal aortic aneurysms	OTHER	OTH	Aortic Aneurysm, Abdominal	19	19q13.2	APOE	50100878	50104490		Gerdes LU et al. 2000	10848855				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The British journal of surgery. 2000 Jun;87(6):760-5	Apolipoprotein E genotype is associated with differential expansion rates of small abdominal aortic aneurysms.		107741	765	1	2000	 APOE genotype seems to influence AAA expansion rate, but the effects of the individual genotypes, in particular E3E3 and E3E4, are contradictory when compared with the effects of the genotypes on risk of atherosclerosis.											
117137	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Korovaitseva GI et al. 2001	11421127				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Russia	KGB	348	Hs.515465			Genetika. 2001 Apr;37(4):529-35	Genetic association between the apolipoprotein E (ApoE) gene alleles and various forms of Alzheimer's disease trans Geneticheskaia assotsiatsiia mezhdu alleliami gena apolipoproteina E (APOE) i razlichnymi formami bolezni Al'tsgeimera.		107741	766	1	2001												
117132	Y	bone mineral density	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Shiraki M et al. 1997	9286760				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of bone and mineral research. 1997 Sep;12(9):1438-45	Association of bone mineral density with apolipoprotein E phenotype.		107741	761	1	1997												
117133	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	19	19q13.2	APOE	50100878	50104490	0.02	Kolovou G et al. 2002	12094820	?2, ?3, ?4	negative association of the ?2 allele with myocardial infarction	coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian	Greece	KGB	348	Hs.515465			Current medical research and opinion. 2002 ;18(3):118-24	Association of apolipoprotein E polymorphism with myocardial infarction in Greek patients with coronary artery disease.		107741	762	1	2002		Case:267; Control:240										
117134	Y	macular degeneration	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490		Schmidt S et al. 2000	11141572				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Molecular vision [electronic resource]. 2000 Dec;6:287-93	Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history age and gender.		107741	763	1	2000	 Our data modestly support a protective effect of the APOE-e4 allele on AMD risk, but emphasize the need to investigate more thoroughly whether the effect could be restricted to cases with a family history of AMD and whether it varies across age and sex groups.											
117129	N	spinal muscular atrophy	OTHER	OTH	Spinal Muscular Atrophies of Childhood	19	19q13.2	APOE	50100878	50104490	n	Morrison KE et al. 1999	10545039				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuromuscular disorders. 1999 Oct;9(7-Jun):372-5	No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy.		107741	758	1	1999												
117130		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Poduslo SE et al. 1995	8530010				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Human genetics. 1995 Nov;96(5):597-600	Association of apolipoprotein E but not B with Alzheimer's disease.		107741	759	1	1995												
117131		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hyperlipidemias|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Liu S et al. 2003	12535745				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Atherosclerosis. 2003 Feb;166(2):323-9	A prospective study of the association between APOE genotype and the risk of myocardial infarction among apparently healthy men.		107741	760	1	2003	 These data from a prospective study of apparently healthy men do not support the simple view of E2 as a protective factor and E4 as a susceptibility factor in predicting future risk of MI independent of lipid parameters. Nor did we observe any interaction between smoking and apoE4 allele on MI risk.											
117126	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2	APOE	50100878	50104490		Fazekas F et al. 2001	11552016				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 2001 Sep;57(5):853-7	Apolipoprotein E epsilon 4 is associated with rapid progression of multiple sclerosis.		107741	755	1	2001	 These results suggest no effect of the APOE genotype on susceptibility to MS, but indicate an association of the APOE epsilon4 allele with a more severe course of the disease.											
117127	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Fallin D et al. 1997	9181358				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Genetic epidemiology. 1997 ;14(3):299-305	No association between the very low density lipoprotein receptor gene and late-onset Alzheimer's disease nor interaction with the apolipoprotein E gene in population-based and clinic samples.		107741	756	1	1997												
117128	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Marz W et al. 1996	8624098				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Annals of the New York Academy of Sciences. 1996 Jan;777:276-80	Apolipoprotein E polymorphism is associated with both senile plaque load and Alzheimer-type neurofibrillary tangle formation.		107741	757	1	1996												
117123	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Hu CJ et al. 1998	9619639			intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	Taiwan	KGB	348	Hs.515465			Journal of the neurological sciences. 1998 May;157(2):158-61	Association of apolipoprotein E genotype and intronic polymorphism of the presenilin-1 gene with Alzheimer's disease in elderly Taiwan Chinese.		107741	752	1	1998												
117124		lipoprotein glomerulopathy	RENAL	REN	Kidney Diseases|Arteriosclerosis	19	19q13.2	APOE	50100878	50104490		Ando M et al. 1999	10504484				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Kidney international. 1999 Oct;56(4):1317-23	A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy.		107741	753	1	1999	 Apo E1 (Gln 156-Gly 173-->0) is a novel mutation of apo E that may be etiologically related to LPG and to the development of atherosclerosis. The result of this family study suggests that the occurrence of LPG may involve other genetic or environmental factors.											
117125	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.2	APOE	50100878	50104490	n	Khan N et al. 2001	11357958				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Annals of neurology. 2001 May;49(5):665-8	Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype.		107741	754	1	2001	We failed to confirm this association in a much larger sample of histopathologically proven cases of Parkinson's disease and controls.	Case:305 Parkinson's disease patients;Control:330 age and sex matched to cases, 175 without any abnormal histopathology of brain tissued samples, and 155 clinical cases with no parkinsonism										
117120	N	amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques	AGING	AGE	Cerebral Amyloid Angiopathy|Alzheimer Disease|Disease Progression	19	19q13.2	APOE	50100878	50104490		Vidal R et al. 2000	10912914				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Acta neuropathologica. 2000 Jul;100(1):12-Jan	Senile dementia associated with amyloid beta protein angiopathy and tau perivascular pathology but not neuritic plaques in patients homozygous for the APOE-epsilon4 allele.		107741	749	1	2000												
117121	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.2	APOE	50100878	50104490		Carlin C et al. 2000	10888365				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neuropathology and experimental neurology. 2000 May;59(5):361-7	Involvement of apolipoprotein E in multiple sclerosis: absence of remyelination associated with possession of the APOE epsilon2 allele.		107741	750	1	2000												
117122	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Stengard JH et al. 1998	9760210				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Human genetics. 1998 Aug;103(2):234-41	An ecological study of association between coronary heart disease mortality rates in men and the relative frequencies of common allelic variations in the gene coding for apolipoprotein E.		107741	751	1	1998												
117117	Y	stroke	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Cerebral Hemorrhage	19	19q13.2	APOE	50100878	50104490		Greenberg SM et al. 1996	8711797				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 1996 Aug;27(8):1333-7	Apolipoprotein E epsilon 4 is associated with the presence and earlier onset of hemorrhage in cerebral amyloid angiopathy.		107741	746	1	1996	 The data support a specific role for apolipoprotein E epsilon 4 in accelerating the process that leads to amyloid angiopathy-related hemorrhage.											
117119		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression	19	19q13.2	APOE	50100878	50104490		Yamaguchi H et al. 2001	11444802				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neuropathology and experimental neurology. 2001 Jul;60(7):731-9	Alzheimer beta amyloid deposition enhanced by apoE epsilon4 gene precedes neurofibrillary pathology in the frontal association cortex of nondemented senior subjects.		107741	748	1	2001												
117114		frontotemporal dementia	NEUROLOGICAL	NEUR	Dementia	19	19q13.2	APOE	50100878	50104490		Verpillat P et al. 2002	12107813				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		France	KGB	348	Hs.515465			European journal of human genetics. 2002 Jul;10(7):399-405	Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis.		107741	743	1	2002												
117115	N	early onset temporal lobe epilepsy.	OTHER	OTH	Epilepsy, Temporal Lobe	19	19q13.2	APOE	50100878	50104490	n	Blumcke I et al. 1997	9175120				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroreport. 1997 Mar;8(5):1235-7	The apolipoprotein E epsilon 4 allele is not associated with early onset temporal lobe epilepsy.		107741	744	1	1997												
117116	N	earlier age at onset in amyotrophic lateral sclerosis.	OTHER	OTH	Amyotrophic Lateral Sclerosis	19	19q13.2	APOE	50100878	50104490	n	Mui S et al. 1995	7668834				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Annals of neurology. 1995 Sep;38(3):460-3	Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis.		107741	745	1	1995												
117111	Y	high coronary heart disease risk particularly affects ser	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Loktionov A et al. 2000	11177205				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The British journal of nutrition. 2000 Dec;84(6):885-90	Gene-nutrient interactions: dietary behaviour associated with high coronary heart disease risk particularly affects serum LDL cholesterol in apolipoprotein E epsilon4-carrying free-living individuals.		107741	740	1	2000												
117113	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Montine KS et al. 1998	9596412				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neuropathology and experimental neurology. 1998 May;57(5):415-25	Distribution of reducible 4-hydroxynonenal adduct immunoreactivity in Alzheimer disease is associated with APOE genotype.		107741	742	1	1998	We conclude that  APOE genotype influences the cellular distribution of increased reducible HNE adduct accumulation in AD.											
117108	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Recurrence	19	19q13.2	APOE	50100878	50104490		Evangelou N et al. 1999	10406990				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 1999 Aug;67(2):203-5	Association of the APOE epsilon4 allele with disease activity in multiple sclerosis.		107741	737	1	1999	 Although APOE does not seem to be implicated in the early pathogenesis of the disease, patients possessing the epsilon4 allele might have a reduced capacity for neuronal remodelling after relapses.											
117109	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Mann DM et al. 1997	9121705				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1997 Jan;221(3-Feb):81-4	Preferential deposition of amyloid beta protein (Abeta) in the form Abeta40 in Alzheimer's disease is associated with a gene dosage effect of the apolipoprotein E E4 allele.		107741	738	1	1997												
117110	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kamboh MI et al. 1999	10213152				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		United States	KGB	348	Hs.515465			Neuroscience letters. 1999 Mar;263(3-Feb):129-32	A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease.		107741	739	1	1999												
117105		coronary heart disease and plasma lipid levels.	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Wu JH et al. 2002	11931577				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Taiwan	KGB	348	Hs.515465			Human biology; an international record of research. 2002 Feb;74(1):25-31	Characterization of apolipoprotein E genetic variations in Taiwanese: association with coronary heart disease and plasma lipid levels.		107741	734	1	2002												
117106		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Liu L et al. 1996	8725748				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Sweden	KGB	348	Hs.515465			American journal of medical genetics. 1996 May;67(3):306-11	Allelic association but only weak evidence for linkage to the apolipoprotein E locus in late-onset Swedish Alzheimer families.		107741	735	1	1996												
117107	Y	altered brain levels of apolipoprotein E	OTHER	OTH	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Laws SM et al. 2002	12232782			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Molecular psychiatry. 2002 ;7(8):886-90	Variation at the APOE -491 promoter locus is associated with altered brain levels of apolipoprotein E.		107741	736	1	2002												
117102	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Yan S et al. 1999	11593554				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		KGB	348	Hs.515465			Chinese medical journal. 1999 Mar;112(3):224-7	Association of polymorphism of apolipoprotein E gene with coronary heart disease in Han Chinese.		107741	731	1	1999	 Hot start PCR assay is considered a rapid and simple technique for apoE genotyping. This method is suitable for routine laboratories and large scale population studies. Genetic polymorphism of the apoE gene might contribute to the determination of serum lipid profile and the development of CHD among Han Chinese.											
117103	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Atrophy	19	19q13.2	APOE	50100878	50104490		Geroldi C et al. 1999	10563634				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465	less frontal and more medial temporal lobe atrophy		Neurology. 1999 Nov;53(8):1825-32	APOE-epsilon4 is associated with less frontal and more medial temporal lobe atrophy in AD.		107741	732	1	1999	 We found smaller volumes in the temporal lobe regions but larger volumes in the frontal lobes with increasing APOE-e4 gene dose in AD patients. These data suggest a region-specific biological effect of the e4 allele in the brains of AD patients.											
117104	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Kimura M et al. 2000	11458997			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	KGB	348	Hs.515465			J Neural Transm. 2000 ;107(12):1449-56	No evidence of association between apolipoprotein E gene regulatory region polymorphism and Alzheimer's disease in Japanese.		107741	733	1	2000												
117099	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	19	19q13.2	APOE	50100878	50104490		Vickers JC et al. 2002	12379839				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Australia	KGB	348	Hs.515465			Molecular vision [electronic resource]. 2002 Oct;8:389-93	The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma.		107741	728	1	2002	 The data indicate that, in the Tasmanian population, inheritance of the [epsilon]4 allele is associated with elevated risk for glaucomatous changes that are not related to increased intraocular pressure.											
117100	Y	early onset ischemic heart disease.	CARDIOVASCULAR	CARD	Myocardial Ischemia	19	19q13.2	APOE	50100878	50104490		Biggart S et al. 1998	9825196				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Clinical cardiology. 1998 Nov;21(11):831-6	Association of genetic polymorphisms in the ACE ApoE and TGF beta genes with early onset ischemic heart disease.		107741	729	1	1998	 The frequency of the ACE D allele was significantly lower in the patient group (0.475) than in the control group (0.59, p = 0.03), which was attributed to a reduction in the number of patients with the DD genotype (patients: 24% DD, controls: 33% DD). Sudden cardiac death was also associated with the DD genotype. These data are consistent with the ACE D allele contributing to a fatal outcome. No association between the DD genotype and risk of myocardial infarction, presenting age, extent of vessel disease, family history, hypertension, or hypercholesterolemia was seen. Analysis of the ApoE genotype showed no association with early onset IHD. There was no evidence for a synergistic effect between the ACE and ApoE genotypes on the risk of early onset IHD. A polymorphism in the TGF beta 2 gene was rare and not associated with early onset IHD.											
117096		SNP allelic association	OTHER	OTH	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Martin ER et al. 2000	10662539				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Genomics. 2000 Jan;63(1):12-Jul	Analysis of association at single nucleotide polymorphisms in the APOE region.		107741	725	1	2000												
117097	N	increased wall thickness of carotid and femoral arteries	CARDIOVASCULAR	CARD		19	19q13.2	APOE	50100878	50104490	n	Sass C et al. 1998	9733219				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Atherosclerosis. 1998 Sep;140(1):89-95	Apolipoprotein E4 lipoprotein lipase C447 and angiotensin-I converting enzyme deletion alleles were not associated with increased wall thickness of carotid and femoral arteries in healthy subjects from the Stanislas cohort.		107741	726	1	1998												
117098	Y	gout	METABOLIC	MET	Gout|Hyperuricemia	19	19q13.2	APOE	50100878	50104490		Cardona F et al. 2003	12626798				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Rheumatology (Oxford, England). 2003 Mar;42(3):468-72	The elevated prevalence of apolipoprotein E2 in patients with gout is associated with reduced renal excretion of urates.		107741	727	1	2003	 These results show that the reduced renal excretion of uric acid in patients with gout is mediated by high levels of VLDL and by the high prevalence of the E2 allele of apolipoprotein E.											
117093		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Halimi G et al. 2000	11095526			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		France	KGB	348	Hs.515465			Neuroreport. 2000 Nov;11(16):3599-601	Association of APOE promoter but not A2M polymorphisms with risk of developing Alzheimer's disease.		107741	722	1	2000												
117094	Y	premature coronary heart disease.	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Viitanen L et al. 2001	11862316			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Finland	KGB	348	Hs.515465			Journal of molecular medicine (Berlin, Germany). 2001 Dec;79(12):732-7	Apolipoprotein E gene promoter (-219G/T) polymorphism is associated with premature coronary heart disease.		107741	723	1	2001	We conclude that  in addition to the epsilon 4 allele, also the -219G/T promoter polymorphism of the apo E gene is associated with early onset CHD.											
117095	N	general cognitive ability	PSYCH	PSY	Cognition Disorders	19	19q13.2	APOE	50100878	50104490	n	Turic D et al. 2001	11166947				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 2001 Feb;299(2-Jan):97-100	No association between apolipoprotein E polymorphisms and general cognitive ability in children.		107741	724	1	2001	We conclude that  variation at these loci is not a factor with a measurable impact on general cognitive ability in the healthy population.											
117090	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Laws SM et al. 1999	10208564				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroreport. 1999 Mar;10(4):879-82	The -491AA polymorphism in the APOE gene is associated with increased plasma apoE levels in Alzheimer's disease.		107741	719	1	1999												
117091	Y	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	19	19q13.2	APOE	50100878	50104490		Yilmaz H et al. 2001	11494308				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Cell biochemistry and function. 2001 Sep;19(3):191-5	Is epsilon4 allele of apolipoprotein E associated with more severe end-organ damage in essential hypertension?		107741	720	1	2001												
117092	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Cardiovascular Diseases|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Janka Z et al. 2002	11803456				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Molecular psychiatry. 2002 ;7(1):110-2	Codon 311 (Cys --> Ser) polymorphism of paraoxonase-2 gene is associated with apolipoprotein E4 allele in both Alzheimer's and vascular dementias.		107741	721	1	2002												
117087	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Wiebusch H et al. 1999	10190327				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Human genetics. 1999 Feb;104(2):158-63	Further evidence for a synergistic association between APOE epsilon4 and BCHE-K in confirmed Alzheimer's disease.		107741	716	1	1999	We conclude that  BCHE through its K-variant, rather than a nearby marker, is a susceptibility factor for AD and enhances the AD risk defined by APOE epsilon4 alone in an age-dependent manner.											
117088	Y	anti-atherogenic lipoprotein profile	METABOLIC	MET	Arteriosclerosis	19	19q13.2	APOE	50100878	50104490		Isasi CR et al. 2000	10969104				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Pediatrics. 2000 Sep;106(3):568-75	Apolipoprotein epsilon2 allele is associated with an anti-atherogenic lipoprotein profile in children: The Columbia University BioMarkers Study.		107741	717	1	2000	 The apo epsilon2 allele is associated with an anti-atherogenic lipid pattern in children.apolipoprotein epsilon, children, cholesterol.											
117089		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kamino K et al. 1996	8804993				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Gerontology. 1996 ;42 Suppl 1:9-Dec	Genetic association study between senile dementia of Alzheimer's type and APOE/C1/C2 gene cluster.		107741	718	1	1996												
117084	Y	apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]	OTHER	OTH	Hypertriglyceridemia|Splenomegaly|Postoperative Complications	19	19q13.2	APOE	50100878	50104490		Nguyen TT et al. 2000	11095479				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			The Journal of clinical endocrinology and metabolism. 2000 Nov;85(11):4354-8	Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].		107741	713	1	2000												
117085	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Lambert JC et al. 1998	9467014			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Human molecular genetics. 1998 Mar;7(3):533-40	A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease.		107741	714	1	1998												
117086	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Ki CS et al. 1999	10206226				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			American journal of medical genetics. 1999 Apr;88(2):113-5	No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease.		107741	715	1	1999												
117081		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Kamboh MI et al. 1997	9129962				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Nigeria	KGB	348	Hs.515465			Genetic epidemiology. 1997 ;14(2):169-80	Gender-specific nonrandom association between the alpha 1-antichymotrypsin and apolipoprotein E polymorphisms in the general population and its implication for the risk of Alzheimer's disease.		107741	710	1	1997												
117082	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		de-Andrade FM et al. 2000	10775884				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Southern Brazilian	Brazil	KGB	348	Hs.515465			Brazilian journal of medical and biological research. 2000 May;33(5):529-37	Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population.		107741	711	1	2000												
117083		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Egensperger R et al. 1998	9669695				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Brain pathology (Zurich, Switzerland). 1998 Jul;8(3):439-47	Microglial activation in Alzheimer disease: Association with APOE genotype.		107741	712	1	1998												
117078	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Helisalmi S et al. 1997	9280167				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1997 Aug;231(1):56-8	No association between alpha1-antichymotrypsin polymorphism apolipoprotein E and patients with late-onset Alzheimer's disease.		107741	707	1	1997												
117079		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Lendon CL et al. 1997	9148246				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	caucasian		KGB	348	Hs.515465			Neuroscience letters. 1997 Feb;222(3):187-90	Genetic association studies between dementia of the Alzheimer's type and three receptors for apolipoprotein E in a Caucasian population.		107741	708	1	1997												
117080	Y	persistent vegetative state	OTHER	OTH	Persistent Vegetative State	19	19q13.2	APOE	50100878	50104490		Hu XF et al. 2002	12561220				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		KGB	348	Hs.515465			Yi chuan xue bao. 2002 Sep;29(9):757-60	Association between apolipoprotein E gene polymorphism and the patients with persistent vegetative state in the Chinese		107741	709	1	2002												
117075	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Helisalmi S et al. 2000	10841982				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 2000 Jun;287(1):25-8	The leucine (7)-to-proline (7) polymorphism in the signal peptide of neuropeptide Y is not associated with Alzheimer's disease or the link apolipoprotein E.		107741	704	1	2000	We conclude that  APOE varepsilon4 allele represents a strong predictor of risk for AD.											
117076	N	abnormal lipid profile	METABOLIC	MET	Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490	n	Aguilar CA et al. 1999	10030393				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Native American	Mexico	KGB	348	Hs.515465			Atherosclerosis. 1999 Feb;142(2):409-14	The apolipoprotein E4 allele is not associated with an abnormal lipid profile in a Native American population following its traditional lifestyle.		107741	705	1	1999												
117077	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Hypertension	19	19q13.2	APOE	50100878	50104490	n	Town T et al. 1999	10490699			coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			American journal of medical genetics. 1999 Oct;88(5):465-8	Alzheimers disease is not associated with the hypertension genetic risk factors PLA(2) or G protein beta3 either independently or interactively with apolipoprotein E.		107741	706	1	1999												
117072	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Ahmed AR et al. 1999	10213175	-491A/T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1999 Mar;263(3-Feb):217-9	The -491A/T polymorphism of the Apolipoprotein E gene is associated with the ApoEepsilon4 allele and Alzheimer's disease.		107741	701	1	1999												
117073	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Yoshizawa T et al. 1994	7944299				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Japan	KGB	348	Hs.515465			Annals of neurology. 1994 Oct;36(4):656-9	Dose-dependent association of apolipoprotein E allele epsilon 4 with late-onset sporadic Alzheimer's disease.		107741	702	1	1994												
117074	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Saunders AM et al. 1993	8350998				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 1993 Aug;43(8):1467-72	Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease.		107741	703	1	1993												
117069	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Mui S et al. 1996	8710077				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 1996 Jul;47(1):196-201	A newly identified polymorphism in the apolipoprotein E enhancer gene region is associated with Alzheimer's disease and strongly with the epsilon 4 allele.		107741	698	1	1996												
117070	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Thaker U et al. 2003	12581338				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuropathology and applied neurobiology. 2003 Feb;29(1):35-44	Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein Abeta40 in sporadic and familial Alzheimer's disease.		107741	699	1	2003												
117071	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Ramassamy C et al. 2000	10671320				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurobiology of disease. 2000 Feb;7(1):23-37	Oxidative insults are associated with apolipoprotein E genotype in Alzheimer's disease brain.		107741	700	1	2000												
117066	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Peng S et al. 2001	11592046				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):375-8	Association of apolipoprotein E gene polymorphism with early-onset coronary heart disease and its effect on plasma lipid levels		107741	695	1	2001	 These results suggest that apoE gene polymorphism is in association with the occurrence and development of early-onset CHD and it affects the plasma lipid levels.											
117067	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		van Duijn CM et al. 1995	7755355				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Annals of neurology. 1995 May;37(5):605-10	The apolipoprotein E epsilon 2 allele is associated with an increased risk of early-onset Alzheimer's disease and a reduced survival.		107741	696	1	1995												
117068		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Muller-Thomsen T et al. 2002	12145452				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Dementia and geriatric cognitive disorders. 2002 ;14(2):59-63	Depression in Alzheimer's disease might be associated with apolipoprotein E epsilon 4 allele frequency in women but not in men.		107741	697	1	2002												
117063		dementia but not cardiovascular mortality	CARDIOVASCULAR	CARD	Dementia|Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Heijmans BT et al. 2002	11807900			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			American journal of medical genetics. 2002 Jan;107(3):201-8	Association of APOE epsilon2/epsilon3/epsilon4 and promoter gene variants with dementia but not cardiovascular mortality in old age.		107741	692	1	2002												
117064	Y	bulbar-onset motor neuron disease	OTHER	OTH	Motor Neuron Disease	19	19q13.2	APOE	50100878	50104490		al-Chalabi A et al. 1996	8544551				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Lancet. 1996 Jan;347(8995):159-60	Association of apolipoprotein E epsilon 4 allele with bulbar-onset motor neuron disease.		107741	693	1	1996												
117065		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Cui T et al. 2000	11218879			intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Zhonghua yi xue za zhi. 2000 Nov;80(11):838-40	Genetic polymorphism analysis of apoE intron 1 enhancer in patients with coronary heart disease and the association with serum lipid level		107741	694	1	2000	 ApoE IE1 gene polymorphism is closely related to serum lipid, and G/G genotype of apoE IE1 may be a risk factor of coronary heart disease in Han Chinese.											
117060	Y	macular degeneration	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490		Klaver CC et al. 1998	9634502				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Netherlands	KGB	348	Hs.515465			American journal of human genetics. 1998 Jul;63(1):200-6	Genetic association of apolipoprotein E with age-related macular degeneration.		107741	689	1	1998												
117061	Y	longevity	AGING	AGE	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Schwanke CH et al. 2002	12185856				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	elderly	Brazil	KGB	348	Hs.515465			Arquivos brasileiros de cardiologia. 2002 Jun;78(6):561-79	Analysis of the association between apolipoprotein E polymorphism and cardiovascular risk factors in an elderly population with longevity.		107741	690	1	2002	 The results suggest that the E4E4 genotype may be associated with early mortality. A balance between the protective or neutral factors and the cardiovascular risk factors may occur among the individuals with different genotypes, attenuating the negative effects of the E4 allele.											
117062	N	dominant type III hyperlipoproteinemia	OTHER	OTH	Hyperlipoproteinemia Type II|Hyperlipoproteinemia Type III	19	19q13.2	APOE	50100878	50104490	n	Marz W et al. 1998	9548597				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of lipid research. 1998 Mar;39(3):658-69	Apolipoprotein E2 (Arg136 --> Cys) mutation in the receptor binding domain of apoE is not associated with dominant type III hyperlipoproteinemia.		107741	691	1	1998												
117057	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Schmidt S et al. 2002	11836653				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			American journal of human genetics. 2002 Mar;70(3):708-17	Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.		107741	686	1	2002												
117058		longevity	AGING	AGE	Myocardial Infarction	19	19q13.2	APOE	50100878	50104490		Wang X et al. 2001	11780357				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	KGB	348	Hs.515465			Chinese medical journal. 2001 Aug;114(8):817-20	Apolipoprotein E gene polymorphism and its association with human longevity in the Uygur nationality in Xinjiang.		107741	687	1	2001	 ApoE genotype may have some impact on human longevity.											
117059		lipoprotein glomerulopathy	RENAL	REN	Kidney Diseases|Thrombosis	19	19q13.2	APOE	50100878	50104490		Konishi K et al. 1999	10529627				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Tokyo	KGB	348	Hs.515465			Nephron. 1999 ;83(3):214-8	Association of a novel 3-amino acid deletion mutation of apolipoprotein E (Apo E Tokyo) with lipoprotein glomerulopathy.		107741	688	1	1999												
117054	Y	outcome after head injury	OTHER	OTH	Craniocerebral Trauma	19	19q13.2	APOE	50100878	50104490		Teasdale GM et al. 1997	10213549				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Lancet. 1997 Oct;350(9084):1069-71	Association of apolipoprotein E polymorphism with outcome after head injury.		107741	683	1	1997												
117055	Y	preeclampsia	OTHER	OTH	Pre-Eclampsia	19	19q13.2	APOE	50100878	50104490		Francoual J et al. 2002	12175441				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Hypertension in pregnancy. 2002 ;21(2):127-33	Is a polymorphism of the apolipoprotein E gene associated with preeclampsia?		107741	684	1	2002	 We were unable to demonstrate that the atherogenic state of preeclampsia is associated with a particular genotype of apo E. Familial studies show that shared genetic and environmental factors are involved in lipid variability. However, owing to the diversity of factors contributing to the development of preeclampsia (fetal and paternal genotypes), these data do not allow to rule-out a possible contribution of maternal apo E to preeclampsia.											
117056		pregnancy-induced chylomicronemia	OTHER	OTH	Pancreatitis|Pregnancy Complications|Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Ma Y et al. 1994	8077845				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of lipid research. 1994 Jun;35(6):1066-75	High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform.		107741	685	1	1994												
117051	N	schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.2	APOE	50100878	50104490	n	Jonsson E et al. 1996	8832195				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			European archives of psychiatry and clinical neuroscience. 1996 ;246(4):182-4	Lack of association between schizophrenia and the apolipoprotein E epsilon 4 allele.		107741	680	1	1996												
117053	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	19	19q13.2	APOE	50100878	50104490		Hao Y et al. 2001	11769703				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	KGB	348	Hs.515465			Zhonghua yi xue za zhi. 2001 Oct;81(19):1172-5	Association between polymorphism of alpha 1-antichymotrypsin and apolipoprotein E gene and Parkinson's disease in Shanghai Hans		107741	682	1	2001	 The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.	Control:101 healthy elderly persons;Case:64 Parkinson's disease cases		AACT		AACT		APOE	epsilon 4	Y		Parkinson's disease
117048	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Ischemic Attack, Transient|Intracranial Embolism and Thrombosis|Coronary Thrombosis|Arteriosclerosis|Embolism|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Disease Susceptibility	19	19q13.2	APOE	50100878	50104490		Kessler C et al. 1997	9409270				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Germany	KGB	348	Hs.515465			Arteriosclerosis, thrombosis, and vascular biology. 1997 Nov;17(11):2880-4	The apolipoprotein E and beta-fibrinogen G/A-455 gene polymorphisms are associated with ischemic stroke involving large-vessel disease.		107741	677	1	1997												
117049	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Infarction|Intracranial Embolism|Cerebral Hemorrhage|Subarachnoid Hemorrhage|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Kokubo Y et al. 2000	10835448				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 2000 Jun;31(6):1299-306	Age-dependent association of apolipoprotein E genotypes with stroke subtypes in a Japanese rural population.		107741	678	1	2000	 Our study suggests that apoE epsilon2 is a risk factor for atherothrombosis, cardioembolism, and intracerebral hemorrhage, whereas epsilon4 is a risk factor for atherothrombosis, intracerebral hemorrhage, and subarachnoid hemorrhage. The occurrence of stroke may be affected by interaction between age and apoE gene polymorphisms.											
117050	N	non-demented leprosy patients	OTHER	OTH	Leprosy	19	19q13.2	APOE	50100878	50104490	n	Endoh M et al. 1998	9469262				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Dementia and geriatric cognitive disorders. 1998 Jan-Feb;9(1):26-8	Alpha-1-antichymotrypsin is not associated with the increased frequency of apolipoprotein-E-epsilon-4 allele in elderly non-demented leprosy patients.		107741	679	1	1998												
117045	Y	serum lipids	OTHER	OTH	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Lehtimaki T et al. 1991	1685655				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Finland	KGB	348	Hs.515465			Annals of medicine. 1991 Dec;23(6):657-62	Association of apolipoprotein E and B polymorphisms with serum lipids.		107741	674	1	1991												
117046	Y	arterial wall thickness	CARDIOVASCULAR	CARD	Hypertrophy	19	19q13.2	APOE	50100878	50104490		Hanon O et al. 2000	10779094				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Journal of hypertension. 2000 Apr;18(4):431-6	Association between the apolipoprotein E polymorphism and arterial wall thickness in asymptomatic adults.		107741	675	1	2000	 In subjects without any evidence of cardiovascular disease, the presence of the epsilon2 allele is related to wall hypertrophy in carotid artery despite favourable effect on the lipid profile.											
117047		stroke	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Beilby JP et al. 2003	12637699				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 2003 Apr;34(4):869-74	Apolipoprotein E gene polymorphisms are associated with carotid plaque formation but not with intima-media wall thickening: results from the Perth Carotid Ultrasound Disease Assessment Study (CUDAS).		107741	676	1	2003	 Our data suggest that polymorphisms in the apoE gene are significantly associated with LDL-C levels and increased risk of carotid plaque formation in men but not IMT in either men or women.											
117042	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Clatworthy AE 1997	9341576	Apo E epsilon 4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Archives of neurology. 1997 Oct;54(10):1289-92			107741	671	1	1997	 This LRP gene polymorphism is not linked with the pathophysiological changes of AD.	Case:130; Control:64										
117043	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Ghebremedhin E 2002	11849755				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			TJB	348	Hs.515465			Neuroscience letters. 2002 Mar;320(2-Jan):25-8	Age-dependent association between butyrylcholinesterase K-variant and Alzheimer disease-related neuropathology in human brains.		107741	672	1	2002	The results show that the association between BCHE-K and AD-related neuropathology only was limited to homozygotes for the K allele (P=0.036 for NFTs, and P=0.045 for A[beta]-deposits) at ages [greater-than-or-equal]70 years but not 50--69 years. Furthermore, no interaction was apparent between BCHE-K and ApoE.	Cohort 521 alzheimer's disease cases		BCHE	K	APOE				N	age	Alzheimer disease related neuropathy
117044	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	Hashim Y 2001	11793025	``-491 and -291			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		TJB	348	Hs.515465			Diabetologia. 2001 Dec;44(12):2227-30	Butyrylcholinesterase K variant on chromosome 3 q is associated with Type II diabetes in white Caucasian subjects.		107741	673	1	2001	The association of the BcHE gene (3q26) with Type II diabetes could be related to an identified susceptibility locus on chromosome 3q27 but appears to be independent of islet function. The absence of diabetes-specific associations with alpha2M, ApoE or ApoE promoter variants suggest that these are not important in the onset of hyperglycaemia.	Case:276 type 2 diabetic subjects from United Kingdom Prospective Diabetes Study;Control:351 non-diabetic subjects from the Diabetes In Families:study										
117039	N	Ischaemic Stroke	NEUROLOGICAL	NEUR	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	MacLeod MJ 2001	11454010	ApoeE epsilon 4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Scottish	Scotland	KGB	348	Hs.515465			European journal of clinical investigation. 2001 Jul;31(7):570-3			107741	668	1	2001												
117040	N	Plasma Lipid Levels	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490	n	Hong SH 1997	9167897	Apo E2. Apo E3. Apo E4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean		KGB	348	Hs.515465			Clinical biochemistry. 1997 Apr;30(3):215-9			107741	669	1	1997	 No effect of the apo E allele on lipid levels was seen in the Korean population. This result suggests that it might be one of the factors in explaining the low prevalence rate of atherosclerosis in the Korean population. Also, the AvaII polymorphism analysis by PCR is a simple and less time-consuming method.	Case:145; Control:81										
117041		Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Lambert JC 2002	12105308	Epsilon4. -491 A-->T and -219 G-->T			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 2002 Jul;59(1):59-66			107741	670	1	2002	 The -491 and -219 APOE promoter polymorphisms incur risk for AD in addition to risk associated with the APOE-epsilon4 allele, with age accentuating the effect of the -219 TT genotype. Because these polymorphisms appear to influence apoE levels, these results suggest that APOE expression is an important determinant of AD pathogenesis.	Case:1732; Control:1926										
117036	N	ischaemic stroke	NEUROLOGICAL	NEUR	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	MacLeod MJ 2001	11454010				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Scotland	KGB	348	Hs.515465			European journal of clinical investigation. 2001 Jul;31(7):570-3			107741	665	1	2001												
117037	N	Amyotrophic Lateral Sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	19	19q13.2	APOE	50100878	50104490	n	Siddique T 1998	10737125	APOE- 4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurogenetics. 1998 Mar;1(3):213-6			107741	666	1	1998		Case:95; Control:268										
117038	Y	Traumatic Brain Imjury	OTHER	OTH	Brain Injuries	19	19q13.2	APOE	50100878	50104490	0.026	Lichtman SW 2000	11094110	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 2000 Nov;55(10):1536-9			107741	667	1	2000	 The data suggest that the presence of the lipoprotein APOE epsilon4 adversely affects rehabilitation outcome for traumatic brain injury survivors.											
117033	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	0.0086	Lahoz C 2001	11257253	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Massachusetts	KGB	348	Hs.515465			Atherosclerosis. 2001 Feb;154(3):529-37			107741	662	1	2001												
117034	Y	sleep-disordered breathing	OTHER	OTH	Sleep Apnea Syndromes	19	19q13.2	APOE	50100878	50104490	0.003	Kadotani H 2001	11401610	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			JAMA. 2001 Jun;285(22):2888-90			107741	663	1	2001	 A significant portion of sleep-disordered breathing is associated with ApoE epsilon4 in the general population.											
117035		Age-associated memory impairment (AAMI)	AGING	AGE	Memory Disorders	19	19q13.2	APOE	50100878	50104490		Bartres-Faz D 1999	10549798	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroreport. 1999 Sep;10(14):2923-7			107741	664	1	1999												
117030	Y	Temporal Lobe Epilepsy	OTHER	OTH	Epilepsy, Temporal Lobe|Atrophy|Chronic Disease	19	19q13.2	APOE	50100878	50104490	0.004	Briellmann RS	10932283	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 2000 Aug;55(3):435-7			107741	659	1	2000												
117031	Y	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Morrison AC 2002	11921083	Epsilon2 and epsilon4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	American		TJB	348	Hs.515465			Genetic epidemiology. 2002 Mar;22(3):233-42			107741	660	1	2002												
117032	Y	aneurysmal subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	19	19q13.2	APOE	50100878	50104490	0.0035	Niskakangas T 2001	11340230	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Finland	KGB	348	Hs.515465			Stroke; a journal of cerebral circulation. 2001 May;32(5):1181-4			107741	661	1	2001	 Our findings show a significant genetic association of APOE polymorphism with outcome after spontaneous aneurysmal SAH. Genetic factors thus seem to explain a part of individual differences in the recovery of SAH.											
117027	Y	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2	APOE	50100878	50104490	0.0002	Chapman 2001	11171894	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neurology. 2001 Feb;56(3):312-6			107741	656	1	2001	 The APOE epsilon4 allele is associated with significantly faster progression of disability in MS. This is the first genetic factor to be identified with a major impact on the progression of disability in this disease.											
117028	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	n	Sodeyama N 2000	10668711	Epsilon4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	TJB	348	Hs.515465			Neurology. 2000 Jan;54(2):443-6			107741	657	1	2000	 The A2M polymorphism does not affect the development of sporadic AD or formation of AD-type neuropathologic changes.	Case:62; Control:90										
117029	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	19	19q13.2	APOE	50100878	50104490	p<0.00001	Batalla A 2000	11106322	Epsilon2. epsilon3. epsilon4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			TJB	348	Hs.515465			Clinical chemistry. 2000 Dec;46(12):1910-5			107741	658	1	2000	 Our data suggest a synergistic effect between the APOE and AGT polymorphisms and early MI. The increased risk could be mediated in part through higher cholesterol concentrations among individuals who are AGT-TT + APOE epsilon4 allele carriers.	Case:220; Control:200										
117024	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Singleton AB 1998	9536100	Epsilon 4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			TJB	348	Hs.515465			Human molecular genetics. 1998 May;7(5):937-9			107741	653	1	1998	We conclude that  in the population studied here there is no association between BCHE-K and AD, or that if such a relationship exists it is precluded by another, as yet unknown factor.											
117025		HDL Cholesterol	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Knoblauch H 2002	12023990				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	German		TJB	348	Hs.515465			Human molecular genetics. 2002 Jun;11(12):1477-85			107741	654	1	2002												
117026	Y	Plasma Lipid Levels	METABOLIC	MET	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Tai ES 2002	12006394	E2			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			TJB	348	Hs.515465			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):805-10			107741	655	1	2002												
117021	Y	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	p=0.025	Dodel RC 2000	10668709	Epsilon4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			TJB	348	Hs.515465			Neurology. 2000 Jan;54(2):438-42			107741	650	1	2000	 Our data support an association between the A2M gene and AD. This association is less pronounced, however, in our cohort than in the previously reported sample of sibpairs.	Case:309; Control:281										
117022	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490	n	Van Dyck CH 1998	9823831	Epsilion4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Archives of neurology. 1998 Nov;55(11):1460-6			107741	651	1	1998	 Greater parietal rCBF asymmetry is involved in epsilon4- AD than in epsilon4+ AD. Lack of the epsilon4 allele may be associated with other (as yet undiscovered) genetic or environmental risk factors, which confer greater neuropathological asymmetry.	Case:30; Control:22										
117023	Y	Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490	0.0001	Zubenko GS 1998	9653640	APO e4			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Genomics. 1998 Jun;50(2):121-8			107741	652	1	1998												
117018		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.2-qter	APOD	196776864	196792278		Desai, P. P.  et al. 2003	12497622				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2	African American		CDC GDPinfo	347	Hs.522555			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):98-101	Genetic variation in apolipoprotein D affects the risk of Alzheimer disease in African-Americans.		107740	15275	2	2003	Our data suggest that the risk of AD among African-Americans may be modified by genetic variation in APOD. Larger population-based or case-control studies are needed to confirm the role of APOD genetic variation in AD.	Control:163 nondemented subjects from a population-based African-American cohort;Case:70 subjects with Alzheimer's disease:Indianapolis										
117019	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.2-qter	APOD	196776864	196792278		Thomas, E. A.  et al. 2003	12873803				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2			CDC GDPinfo	347	Hs.522555			Biological psychiatry. 2003 Jul;54(2):136-41	Apolipoprotein D levels are elevated in prefrontal cortex of subjects with Alzheimer's disease: norelation to apolipoprotein E expression or genotype.		107740	15276	2	2003	 These findings suggest that apoD may be related to the cognitive decline observed in AD patients and that apoD and apoE likely play different roles in the pathogenesis of AD.	Case:20 autopsy-confirmed AD subjects;Control:40 control subjects										
117020		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.2-qter	APOD	196776864	196792278		Helisalmi, S.  et al. 2004	15316799				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2	Finnish	Finland	CDC GDPinfo	347	Hs.522555			Journal of neurology. 2004 Aug;251(8):951-7	Genetic variation in apolipoprotein D and Alzheimer's disease.		107740	15277	2	2004	Each method suggested that the -352G allele frequency is higher for EOAD in the eastern Finnish population.	Case:394 eastern Finnish Alzheimer's disease patients;Control:470 control subjects										
117013		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOC2	50141082	50144658		Gao, C.  et al. 2001	11930616				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			CDC GDPinfo	344	Hs.75615			Zhonghua yi xue za zhi. 2001 Dec;81(23):1436-8	[Genetic polymorphism analysis of apolipoprotein CII microsatellite DNA (TG) n (AG) m in patients with coronary heart disease]		608083	8726	2	2001	 The allele 17 of apoCII may be an independent risk factor for CHD in Han population.											
117014		cholesterol; coronary heart disease; lipoproteins	METABOLIC	MET		19	19q13.2	APOC2	50141082	50144658		Harich, N.  et al. 2002	12220441				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3	Moroccan Berbers		CDC GDPinfo	344	Hs.75615			Clinical genetics. 2002 Sep;62(3):240-4	Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPAgene and APOE-C1-C2 gene cluster.		608083	20465	2	2002	The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.	Cohort 140 Berber individuals Morroccan Moyen Atlas region 										
117016		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.2-qter	APOD	196776864	196792278		Baker WA 1994	7895459				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2	Finnish	India|Finland|Micronesia	Y Wang	347	Hs.522555			Diabetic medicine. 1994 Dec;11(10):947-52	Apolipoprotein D gene polymorphism: a new genetic marker for type 2 diabetic subjects in Nauru and south India.		107740	649	1	1994												
117009		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOC2	50141082	50144658		Schellenberg GD et al. 1992	1349467				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			KGB	344	Hs.75615			Annals of neurology. 1992 Feb;31(2):223-7	Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease.		608083	644	1	1992												
117010	Y	type III hyperlipoproteinemia	OTHER	OTH	Hyperlipoproteinemia Type III	19	19q13.2	APOC2	50141082	50144658		Smit M et al. 1988	2892779				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			KGB	344	Hs.75615			Human genetics. 1988 Jan;78(1):90-3	Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia.		608083	645	1	1988												
117011		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	19	19q13.2	APOC2	50141082	50144658		Yagi T 1996	8911786				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3	Japanese	Japan	Y Wang	344	Hs.75615			Diabetic medicine. 1996 Oct;13(10):902-7	A population association study of four candidate genes (hexokinase II, glucagon-like peptide-1 receptor, fatty acid binding protein-2, and apolipoprotein C-II) with type 2 diabetes and impaired glucose tolerance in Japanese subjects.		608083	646	1	1996												
117005		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOC1	50109416	50114446		Retz, W.  et al. 2001	11702052				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Psychiatric genetics. 2001 Sep;11(3):115-22	Potential genetic markers of sporadic Alzheimer's dementia		107710	20463	2	2001	We conclude that , apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease.	Case patients suffering from Alzheimer's dementia;Control non-demented psychiatric patients										
117006		paraoxonase-1 specific activity	NORMALVARIATION	NV		19	19q13.2	APOC1	50109416	50114446		James, R. W.  et al. 2005	15900219				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Pharmacogenetics and genomics. 2005 Jun;15(6):441-6	Paraoxonase-1 promoter polymorphism C--107T and serum apolipoprotein AI interact to modulate serum paraoxonase-1 status.		107710	20464	2	2005	 Enzyme inactivation giving rise to modulated activity per unit mass of peptide is not a major contributor to pathological effects of disease on serum paraoxonase-1 status. The C--107T polymorphism and serum apolipoprotein AI have major impacts individually on SP and also provide an example of gene-environment interaction to modulate such activities. These effects accentuate the differences between--107C and--107T allele carriers in terms of serum paraoxonase-1 status. The data underline the complexity of the factors that determine serum paraoxonase-1 status and suggest that the latter would benefit from therapeutic modulation of serum high density lipoproteins.	Control:controls;Case:patients										
117008	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19q13.2	APOC2	50141082	50144658		Zouali H et al. 1999	10335523				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			KGB	344	Hs.75615			Multiple sclerosis (Houndmills, Basingstoke, England). 1999 Apr;5(2):134-6	Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis.		608083	643	1	1999												
117001	Y	cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	19	19q13.2	APOC1	50109416	50114446		Hubacek, J. A.  et al. 2004	15077570				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Cas Lek Cesk. 2004 ;143(2):94-6	[In Process Citation]		107710	15250	2	2004	 The widespread I/D polymorphism in the gene for APOCI determines the plasma lipid levels in childhood and it could become another important genetic marker that plays a role in the genetic determination of cholesterolemia.	Case:82 children with high cholesterol levels;Control:86 children with low cholesterol levels										
117002		memory disturbance	NEUROLOGICAL	NEUR	Memory Disorders|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Serra-Grabulosa, J. M.  et al. 2003	12736801				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Neurogenetics. 2003 Apr;4(3):141-6	Apolipoproteins E and C1 and brain morphology in memory impaired elders.		107710	15297	2	2003	Our results suggest that the role of the APOC1 polymorphism in brain morphology of the cognitively impaired elderly should be examined in further studies.	Cohort 50 subjects with age-associated memory impairment 										
117003		cholesterol; coronary heart disease; lipoproteins	METABOLIC	MET		19	19q13.2	APOC1	50109416	50114446		Harich, N.  et al. 2002	12220441				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	Moroccan Berbers		CDC GDPinfo	341	Hs.110675			Clinical genetics. 2002 Sep;62(3):240-4	Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPAgene and APOE-C1-C2 gene cluster.		107710	18065	2	2002	The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.	Cohort 140 Berber individuals Morroccan Moyen Atlas region 										
116997		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOC1	50109416	50114446		Yang, J. D.  et al. 2003	12962909			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	Chinese		CDC GDPinfo	341	Hs.110675			Neuroscience letters. 2003 Oct;350(1):25-8	Apolipoprotein E -491 promoter polymorphism is an independent risk factor for Alzheimer's disease in the Chinese population.		107710	8785	2	2003	So in the Chinese population only APOE -491 promoter alleles confer significant risk of AD independent of varepsilon 4 status.	Control:133:controls;Case:183 Chinese definite and probable Alzheimer's disease:cases		APOE	491	APOE	epsilon 4			Y		Alzheimer's disease
116998	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Shi, J.  et al. 2004	14705977				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	Chinese	China	CDC GDPinfo	341	Hs.110675			Acta neurologica Scandinavica. 2004 Feb;109(2):140-5	Association between apolipoprotein CI HpaI polymorphism and sporadic Alzheimer's disease in Chinese		107710	8787	2	2004	 The present study partially confirmed the previous findings, suggesting that the ApoCI A allele might contribute to the susceptibility to moderate to severe sporadic AD in Chinese.	Control:242 age-matched elderly individuals;Case:257 Chinese Alzheimer's disease patients		ApoCI	A	APOE	epsilon4			Y		Sporadic Alzheimer's disease in Chinese
116999	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Tycko, B.  et al. 2004	15364690			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	African American	Caribbean Region	CDC GDPinfo	341	Hs.110675			Archives of neurology. 2004 Sep;61(9):1434-9	APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals.		107710	8796	2	2004	 These findings exclude a strong or independent influence of APOE or APOC1 promoter polymorphisms on the variation in APOE-related risk of AD in African American and Caribbean Hispanic individuals.	Control:controls;Case African American and Caribbean Hispanic individuals Alzheimer's disease patients										
116994		lipoprotein	METABOLIC	MET	Hyperlipidemias	19	19q13.2	APOC1	50109416	50114446		Cohn, J. S.  et al. 2003	12860251			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921		Canada|France	CDC GDPinfo	341	Hs.110675			Atherosclerosis. 2003 Jul;169(1):63-70	Plasma concentration and lipoprotein distribution of ApoC-I is dependent on ApoE genotype rather than the Hpa I ApoC-I promoter polymorphism.		107710	8723	2	2003	These results suggest that plasma levels of apoC-I are more strongly influenced by apoE genotype than by the Hpa I apoC-I promoter polymorphism, which probably reflects an effect of different apoE isoforms on plasma lipoprotein and plasma apoC-I metabolism, rather than a direct effect of apoE alleles on apoC-I transcription.	Cohort 391 French-Canadians recruited for a family study 										
116995	Y	lipoprotein	METABOLIC	MET		19	19q13.2	APOC1	50109416	50114446		Shachter, N. S.  et al. 2005	15777558			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Atherosclerosis. 2005 Apr;179(2):387-93	The common insertional polymorphism in the APOC1 promoter is associated with serum apolipoprotein C-I levels in Hispanic children.		107710	8724	2	2005	These findings suggest that the mechanism of the previously described association with plasma TG is, at least in part, related to the correlation of the polymorphism with the level of expression of apoC-I.	Cohort 362 Hispanic children in the Columbia University BioMarkers Study 										
116996		cholesterol	METABOLIC	MET	Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Hubacute;cek, J. A.  et al. 2003	12678662				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	Czech	Czech Republic	CDC GDPinfo	341	Hs.110675			Physiological research. 2003 ;52(2):195-200	Apolipoprotein E and apolipoprotein CI polymorphisms in the Czech population: almostcomplete linkage disequilibrium of the less frequent alleles of both polymorphisms.		107710	8779	2	2003	An almost complete linkage disequilibrium of the insertion allele of APOCI with the APOE alleles epsilon2 and epsilon4 has been detected and suggests that the deletion in the APOCI gene probably follows the deriving of all three APOE alleles on the APO epsilon3 allele background.	Cohort 653 probands (302 men and 351 women) of Czech origin 										
116991	Y	high and low levels of cholesterol	METABOLIC	MET	Hypercholesterolemia	19	19q13.2	APOC1	50109416	50114446		Hubacek JA 2004	15077570	insertion/deletion (HpaI)			Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	children		KGB	341	Hs.110675			Cas Lek Cesk. 2004 ;143(2):94-6	Antagonistic effect of the insertion/deletion (HpaI) polymorphism in the regulatory part of the gene for apolipoprotein CI in children with high and low levels of cholesterol , trans Protichudny efekt inzercniho/delecniho (HpaI) polymorfizmu v regulacni c		107710	641	1	2004	 The widespread I/D polymorphism in the gene for APOCI determines the plasma lipid levels in childhood and it could become another important genetic marker that plays a role in the genetic determination of cholesterolemia.	Case:82 children with high cholesterol levels;Control:86 children with low cholesterol levels										
116992	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Ki, C. S.  et al. 2002	11825674				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921		Korea	CDC GDPinfo	341	Hs.110675			Neuroscience letters. 2002 Feb;319(2):75-8	Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease.		107710	8721	2	2002	These results support previous observations that the APOC1 might be an additional susceptibility gene for LOAD.	Case:120 Korean late-onset Alzheimer's disease patients;Control:132 age-matched controls										
116993		cholesterol, LDL	METABOLIC	MET		19	19q13.2	APOC1	50109416	50114446		Gao, L.  et al. 2002	12429068			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			BMC medical genetics [electronic resource]. 2002 Nov;3:13	An Improved RSP Method to Detect HpaI Polymorphism in the Apolipoprotein C-1 Gene Promoter		107710	8722	2	2002	 This assay will be readily applied to screen large sample sizes for population studies in a simple and cost effective way.	Cohort 92 human samples collected from the Johns Hopkins Hospital 										
116987	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Ki CS et al. 2002	11825674				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921		Korea	KGB	341	Hs.110675			Neuroscience letters. 2002 Feb;319(2):75-8	Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease.		107710	637	1	2002	These results support previous observations that the APOC1 might be an additional susceptibility gene for LOAD.	Case:120 Korean late-onset Alzheimer's disease patients;Control:132 age-matched controls										
116988	Y	age-associated memory impairment	AGING	AGE	Memory Disorders	19	19q13.2	APOC1	50109416	50114446		Bartres-Faz D et al. 2001	11714102				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			KGB	341	Hs.110675			Neurogenetics. 2001 Oct;3(4):215-9	APOE and APOC1 genetic polymorphisms in age-associated memory impairment.		107710	638	1	2001												
116989		familial dysbetalipoproteinemia	OTHER	OTH	Hyperlipoproteinemia Type III	19	19q13.2	APOC1	50109416	50114446		Smit M et al. 1988	2897845			promoter	Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			KGB	341	Hs.110675			Biochemical and biophysical research communications. 1988 May;152(3):1282-8	Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene.		107710	639	1	1988												
116990	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Shi J 2004	14705977				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921		China	KGB	341	Hs.110675			Acta neurologica Scandinavica. 2004 Feb;109(2):140-5	Association between apolipoprotein CI HpaI polymorphism and sporadic Alzheimer's disease in Chinese.		107710	640	1	2004	 The present study partially confirmed the previous findings, suggesting that the ApoCI A allele might contribute to the susceptibility to moderate to severe sporadic AD in Chinese.	Control:242 age-matched elderly individuals;Case:257 Chinese Alzheimer's disease patients		ApoCI	A	APOE	epsilon4			Y		Sporadic Alzheimer's disease in Chinese
116984		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	2	2p24-p23	APOB	21077805	21120450		Zee, R. Y.  et al. 2002	12082592				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		107730	27687	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
116985		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	2	2p24-p23	APOB	21077805	21120450		Navarro-Lopez, F.   2002	11975906				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		107730	27688	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
116986		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p24-p23	APOB	21077805	21120450		Liljedahl, U.  et al. 2003	12544508				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		107730	28213	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
116981		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Islam, M. S.  et al. 2005	15823278				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Finnish	Finland	CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2005 May;180(1):79-86	Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study.		107730	24048	2	2005	No significant association between apoB XbaI polymorphism and carotid IMT was found. However, serum total and LDL cholesterol and apoB concentrations were significantly different among apoB genotype groups (p<0.001 for all traits). The apoA-I/C-III/A-IV SstI polymorphism is associated with carotid IMT in young Finns.	Cohort 214 individuals as a random sub-sample from the 'Cardiovascular Risk in Young Finns' study Finland 										
116982		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Bertolini, S.  et al. 2004	15135251				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		107730	24049	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
116983		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Pallaud, C.  et al. 2001	11341749				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		France|Italy	CDC GDPinfo	338	Hs.120759			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		107730	25840	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
116978		lipid metabolism	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Pallaud, C.  et al. 2001	11714857				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		107730	24044	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
116979		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Pallaud, C.  et al. 2001	11359462				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		107730	24045	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
116980		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Pallaud, C.  et al. 2001	11575217				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	French		CDC GDPinfo	338	Hs.120759			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		107730	24046	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
116975		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemias	2	2p24-p23	APOB	21077805	21120450		Kay, A.  et al. 2002	12044583				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	German	Germany	CDC GDPinfo	338	Hs.120759			Atherosclerosis Supplements. 2002 May;3(1):27-33	Coronary artery disease and dyslipidemia within Europe: genetic variants in lipid transport geneloci in German subjects with premature coronary artery disease.		107730	20460	2	2002	Associations between five polymorphisms representing four lipid transport gene loci and dyslipidemia were demonstrated in this German population. It is possible that predisposition to dyslipidemia in Germany involves a particular selection of polymorphic loci, which are different from those identified in other European countries.	Cohort German population sample 										
116976		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Vincent, S.  et al. 2002	12691171				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		107730	20461	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
116977		blood pressure, arterial	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Sass, C.  et al. 2004	15076187				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		107730	24043	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
116972		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Masana, L.  et al. 2001	11171287				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Spanish	Spain	CDC GDPinfo	338	Hs.120759			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		107730	20457	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
116973		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	2	2p24-p23	APOB	21077805	21120450		Baroni, M. G.  et al. 2003	12964943				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Italian	Italy	CDC GDPinfo	338	Hs.120759			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		107730	20458	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
116974		lipids; left ventricular mass; aortic gradient; aortic valve stenosis	METABOLIC	MET	Aortic Valve Stenosis	2	2p24-p23	APOB	21077805	21120450		Avakian, S.  et al. 2001	11903341				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Clinical genetics. 2001 Nov;60(5):381-4	Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis.		107730	20459	2	2001	Univariate analysis showed a higher prevalence of the XbaI X? genotype (p=0.007) of apo B and the apo E2 allele (p=0.034) in patients with severe AS. Apo polymorphisms were not associated with lipid levels, left ventricular mass, or the aortic gradient.	Case:62 non-diabetic patients with severe aortic valve:stenosis;Control:62 control subjects										
116969		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Graham, C. A.  et al. 2005	16159606				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2005 Oct;182(2):331-40	Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.		107730	18007	2	2005												
116970		heart disease, ischemic	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Zateishchikov, D. A.  et al. 2004	15699916				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Kardiologiia. 2004 ;44(12):16-22	[Genetic Predictors of Unfavorable Course in High Risk Patients With Ischemic Heart Disease. Data of Follow-up for Two Years.]		107730	19034	2	2004	Thus genetic factors play a role not only in formation of coronary atherosclerosis but determine the course of ischemic heart disease.	Cohort 154 patients with acute unstable angina 										
116971		Alzheimer's disease; triglycerides; atherosclerosis, coronary	NEUROLOGICAL	NEUR		2	2p24-p23	APOB	21077805	21120450		Demarchi, D. A.  et al. 2005	16136540				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			American journal of human biology. 2005 Sep-Oct;17(5):593-600	Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska.		107730	20456	2	2005												
116966		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Yu, W.  et al. 2002	12417285				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Japan	CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2002 Dec;165(2):335-42	Molecular genetic analysis of familial hypercholesterolemia: spectrum and regionaldifference of LDL receptor gene mutations in Japanese population.		107730	17996	2	2002	The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)	Cohort 200 unrelated Japanese patients with clinically diagnosed heterozygous familial hypercholesterolemia 										
116967		hypercholesterolemia	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Meshkov, A. N.  et al. 2004	15477777				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Kardiologiia. 2004 ;44(9):58-61	[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.]		107730	18002	2	2004	 These findings broaden knowledge on mutations responsible for development of familial hypercholesterolemia and confirm molecular heterogeneity of this disease in Russia.	Cohort unrelated pateitns with heterozygous familial hypercholesterolemia Russia 										
116968		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Fouchier, S. W.  et al. 2004	15630635				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Netherlands	CDC GDPinfo	338	Hs.120759			Seminars in vascular medicine. 2004 Aug;4(3):259-64	Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.		107730	18003	2	2004	FDB patients, free from clinical selection bias, do show lower total and LDL-cholesterol levels and lower CAD risk compared with FH heterozygotes. However, FDB patients are still exposed to a substantially higher CAD risk compared with unaffected relatives.	Cohort individuals from a large-scale screening program for inherited hypercholesterolemia in which FH and FDB heterozygotes were diagnosed by standard molecular techniques 										
116963		holoprosencephaly	NEUROLOGICAL	NEUR	Holoprosencephaly	2	2p24-p23	APOB	21077805	21120450		Croen, L. A.  et al. 2002	11857554				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			American journal of medical genetics. 2002 Feb;108(1):75-7	Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly		107730	15289	2	2002	Our results suggest that polymorphims in infant genes regulating cholesterol metabolism do not contribute substantially to the risk of HPE. Since a defective maternal-fetal cholesterol transport system has been proposed as a plausible mechanism underlying abnormal cetral nervous system development, and failing to find positive associations in the infants, it may be wortwhile to examine apoB and apoE genotypes in mothers of infants with HPE.	Case:23 infants with holoprosencephaly:1983-1988;Control:73 live born, non-malformed infants who were selected from the population of controls included in two previously describd case-control studies										
116964	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450			16152798				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Genetika. 2005 Jul;41(7):931-7	[Polymorphic gene markers of lipid metabolism are associated with diabetic nephropathy in patients with type 1 diabetes mellitus]		107730	15311	2	2005												
116965		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor	2	2p24-p23	APOB	21077805	21120450		Higgins, J. J.  et al. 2004	15355439				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Singapore	CDC GDPinfo	338	Hs.120759			Clinical genetics. 2004 Oct;66(4):353-7	Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor.		107730	16560	2	2004	The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100-kb interval between the loci etm1231 and APOB.	Cohort 49 Singaporean controls older than age 65 Cohort 52 Singaporean individuals with a family history of essential tremor 										
116960		lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Soufi, M.  et al. 2004	15135245	His3543Tyr.			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	German	Austria|Germany	CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2004 May;174(1):6-Nov	A new but frequent mutation of apoB-100-apoB His3543Tyr.		107730	15246	2	2004	In conclusion, the new mutation is four times more frequent than "classical" FDB and thus appears to be the most common apoB mutation in Germany.	Cohort 853 consecutively sampled German patients undergoing diagnostic coronary angiography for suspected CAD 										
116961	Y	diabetic neuropathy	RENAL	REN	Diabetic Neuropathies	2	2p24-p23	APOB	21077805	21120450			15856946				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Molekuliarnaia biologiia. 2005 Mar-Apr;39(2):230-4	[Association of polymorphic markers of lipid metabolism genes with diabetic polyneuropathy in type 1 diabetes mellitus]		107730	15247	2	2005	Our findings show that APOB gene, encoding one of the main components of lipid metabolism system, is involved into the diabetic polyneuropathy development in type 1 diabetes mellitus.	Case:86 type 1 diabetics with polyneuropathy;Control:94 type 1 diabetics without polyneuropathy										
116962		ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia	2	2p24-p23	APOB	21077805	21120450		Baitasova, N. B.  et al. 2001	11840804				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Klinicheskaia meditsina. 2001 ;79(12):19-21	[Apolipoprotein genes in patients with ischemic heart disease]		107730	15259	2	2001	No significant relationship between the studied genes polymorphism and coronary disease was detected in the Kazakhs and Uigurs.	Control:205 healthy controls;Case:241 Kazakhs and Uigurs coronary patients										
116957	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Machado, M. O.  et al. 2001	11170229				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Caucasian	Brazil	CDC GDPinfo	338	Hs.120759			Journal of clinical laboratory analysis. 2001 ;15(1):19-24	Apo B gene haplotype is associated with lipid profile of higher risk for coronary heart disease in Caucasian Brazilian men		107730	15243	2	2001	These data indicate that a single haplotype, X+Del, within the apo B gene exerts an impact on lipid metabolism and may contribute to the susceptibility to development of CHD in males from a population of Brazilians.	Case:67 patients with CHD;Control:67 age-matched healthy individuals selected from a population of Brazilians										
116958		hypercholesterolemia	METABOLIC	MET	Cardiovascular Diseases|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Viola, S.  et al. 2001	11568510	Arg3500Gln			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		France	CDC GDPinfo	338	Hs.120759			Journal of pediatric gastroenterology and nutrition. 2001 Aug;33(2):122-6	Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a Frenchmulticenter study.		107730	15244	2	2001	 The familial defective apolipoprotein B-100 mutation was common (1/31) in children with a phenotype of familial hypercholesterolemia, supporting screening in this population with the goal of preventing premature cardiovascular events.	Cohort 190 children attending 13 pediatric clinics distributed throughout France France 										
116959		cholesterol, HDL; cholesterol, LDL; lipids	METABOLIC	MET	Obesity	2	2p24-p23	APOB	21077805	21120450		Jemaa, R.  et al. 2004	15047470				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Annales de biologie clinique. 2004 Mar-Apr;62(2):183-8	[In Process Citation]		107730	15245	2	2004	In the obese people, these structural changes may have some effect on lipid metabolism and cause variation in serum lipid concentrations.	Cohort 234 unrelated caucasian obese subjects (74 men and 160 										
116954		PAH metabolites, urinary	NORMALVARIATION	NV		2	2p24-p23	APOB	21077805	21120450		Smolyanitsky, A. G.  et al. 2003	14550622				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Russian		CDC GDPinfo	338	Hs.120759			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-J(H), D17S30, ApoB and D1S80 loci in northwestern Russians		107730	12136	2	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia 										
116955	Y	cholelithiasis	METABOLIC	MET	Gallstones	2	2p24-p23	APOB	21077805	21120450		Jiang, Z. Y.  et al. 2004	15133863				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			World journal of gastroenterology. 2004 May;10(10):1508-12	Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.		107730	12137	2	2004	 With an association analysis, it was determined that A allele of CYP7A gene and X+ allele of APOB gene might be considered as risk genes for GSD. These alleles are related with differences of serum lipids among subjects. Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors. But the mechanism for these two alleles responsible for GSD requires further investigations.	Case:105 patients with gallbladder stone disease;Control:274 control subjects										
116956	N	atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease	2	2p24-p23	APOB	21077805	21120450		Rios, D.  et al. 2003	12752570				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Clinical genetics. 2003 May;63(5):380-5	Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease.		107730	14084	2	2003	Despite the associations with lipids, these polymorphisms were not associated with CAD risk or severity in this sample.	Control:188 healthy controls;Case:298 European descent patients with non-diabetic angiographically assessed coronary artery disease:Brazil		APOB SREBP-1a G-G-	Del/X+ haplotype	SREBP	1a G-G			Y		coronary artery disease
116951		atherosclerosis, coronary	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Li, S.  et al. 2003	12778454				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):241-3	[Relationship between apolipoprotein E and apolipoprotein B polymorphisms in youths with coronary heart disease]		107730	8780	2	2003	 The alleles for apo e4, XbaI x(+), 3'VNTR-B may be the important genetic markers of Han CHD.	Cohort 244 healthy Han students (among them were 109 students with positive CHD family history) 	family history									
116952		cholesterol, LDL	METABOLIC	MET	Phenylketonurias	2	2p24-p23	APOB	21077805	21120450		Verduci, E.  et al. 2004	15207528				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Prostaglandins, leukotrienes, and essential fatty acids. 2004 Aug;71(2):117-20	Apolipoprotein B gene polymorphism and plasma lipid levels in phenylketonuric children		107730	8794	2	2004	Subgroups of apoB polymorphisms were similar for energy intake, dietary lipids and distribution of apo E polymorphisms. Children carrying XbaI X+ / X+ showed higher plasma levels of LDL cholesterol than children carrying X- / X-/+. This gene-related response to dietary habits might play a role also in non-PKU individuals fed low-fat, low-cholesterol diets.	Cohort 82 phenylketonuric (PKU) children on diet (34 girls, 48 boys, age 4-12 years, median 8 years) 		ApoB	XbaI X+ / X+	APOE				Y		plasma lipid levels in phenylketonuric children
116953	Y	fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	2	2p24-p23	APOB	21077805	21120450		Hefler, L.  et al. 2004	14706682				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		107730	12018	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
116948		atherosclerosis, coronary; longevity	CARDIOVASCULAR	CARD	Arteriosclerosis	2	2p24-p23	APOB	21077805	21120450		Garasto, S.  et al. 2004	15028112				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			BMC medical genetics [electronic resource]. 2004 Feb;5:3	A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians		107730	8719	2	2004	 On the whole, the S alleles would be advantageous in adults (by protecting from CD-L) while dangerous in the elderly, probably by lowering serum cholesterol below a critical threshold. This could explain the convex frequency trajectory of SS genotypes previously observed in a healthy aging population.	Cohort 209 healthy people Calabria, southern Italy Cohort 40/40 cardiovascular atherosclerotic disease patients characterized either by low serum HDL-Cholesterol (n=40) or by high serum LDL-Cholesterol (n=40) 										
116949		hyperlipidemia	METABOLIC	MET	Arteriosclerosis|Hypercholesterolemia|Rare Diseases	2	2p24-p23	APOB	21077805	21120450		Tamer, L.  et al. 2004	16201717				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Turkish	Turkey|Mediterranean Region	CDC GDPinfo	338	Hs.120759			Eastern Mediterranean health journal. 2004 Jan-Mar;10(2-Jan):125-30	Apolipoprotein B gene polymorphisms in people in the east Mediterranean area of Turkey.		107730	8720	2	2004												
116950		atherosclerosis, coronary; longevity	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Corbo, R. M.  et al. 1999	11533951				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			American journal of human biology. 1999 ;11(3):297-304	An investigation of human apolipoproteins B and E polymorphisms in two African populations from Ethiopia and Benin.		107730	8771	2	1999	Regarding APOE, the cumulated allele frequencies of Ethiopia and Benin were 0.031 and 0.103 for epsilon*2 allele, 0.811 and 0.742 for epsilon*3, and 0.143 and 0.155 for epsilon*4, respectively.	Cohort two population samples of Amhara and Oromo origin from Ethiopia, and in two population samples of Bariba and Berba origin from Benin Amhara and Oromo, Bariba and Berba 										
116945		carotid atherosclerosis	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Verbenko, D. A.  et al. 2003	12774037				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			European journal of human genetics. 2003 Jun;11(6):444-51	Apolipoprotein B 3'-VNTR polymorphism in Eastern European populations		107730	8716	2	2003	The results demonstrate the variability of 3' ApoB minisatellite polymorphism not only in distant populations but also, to a certain extent, in genetically relative ones.	Cohort healthy unrelated individuals from the Russian Federation and the Republic of Belarus, in 10 										
116946		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Chiodini, B. D.  et al. 2003	12818419				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Atherosclerosis. 2003 Apr;167(2):355-66	APO B gene polymorphisms and coronary artery disease: a meta-analysis.		107730	8717	2	2003	 Despite the small size of most studies and the incomplete understanding of the effects of these polymorphisms on lipid metabolism and on final clinical implications, the findings suggest that EcoRI and SpIns/Del polymorphisms significantly increase the risk of CAD and MI. Despite the rarity of the allelic variant of EcoRI polymorphism, its presence is strongly related to the occurrence of CAD/MI. Moreover, there is a high consistency between small and large studies. The results on SpIns/Del polymorphism seem the most interesting and reliable, considering both the number of subjects analysed and the consistency of the evidence of its effect on lipid levels. These results need to be confirmed by larger and appropriately powered studies.	Case coronary artery disease cases from 30 studies;Control controls from 30 studies										
116947		cholelithiasis	METABOLIC	MET	Gallstones	2	2p24-p23	APOB	21077805	21120450		Tan, Y. F.  et al. 2003	12895336				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Zhonghua yi xue za zhi. 2003 May;83(10):844-7	[Relationship among the XhaI and EcoRI locus polymorphisms of apolipoprotein B gene, serum lipid metabolism and gallstone disease]		107730	8718	2	2003	 ApoB gene X+ allele of XbaI locus and E-allele of EcoRI locus may be the susceptible genes for gallstone disease, and variation of X+ and E-alleles may affect serum lipid metabolism and formation of gallstone.	Control:105:controls;Case:106 patients with gallstone disease										
116942	Y	obesity	METABOLIC	MET	Obesity	2	2p24-p23	APOB	21077805	21120450			11898622				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Russian	Russia	CDC GDPinfo	338	Hs.120759			Genetika. 2002 Feb;38(2):285-8	[Study of the association between constitutional exogenous obesity and polymorphism of the apolipoprotein B gene]		107730	8713	2		Estimation of relative risk for individuals with genotype Ins/Ins did not reveal a significant association between obesity and this genotype. Thus, constitutional exogenous obesity did not prove to be associated with the Ins/Del polymorphism of the apoB gene in the Russian population.	Case patients with obesity;Control healthy individuals										
116943		obesity	METABOLIC	MET	Hyperlipidemias|Obesity	2	2p24-p23	APOB	21077805	21120450		Jemaa, R.  et al. 2002	12368141				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Annales de biologie clinique. 2002 Sep-Oct;60(5):559-64	[VNTR3' polymorphism of apoliproprotein B gene in obese people]		107730	8714	2	2002	Our study confirms in the obese subjects, results published in the general litterature, and shows that the apoB has an important role in the metabolism of plasma lipids and most particulary its gene variants.	Cohort 234 unrelated overwight outpatients (160 women and 74 										
116944		lipids	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Zhu, W.  et al. 2001	12561593				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDPinfo	338	Hs.120759			Wei sheng yan jiu. 2001 Sep;30(5):280-2	[Gene polymorphism at apoB locus and the serum lipids profile in children]		107730	8715	2	2001	More studies and analysis on the relationship between serum lipids and multiple genes in multisites should be the next step.	Cohort 308 normal Japanese 7-11 year-old children 										
116939	Y	obesity	CARDIOVASCULAR	CARD	Coronary Disease|Obesity	2	2p24-p23	APOB	21077805	21120450		Rajput-Williams J et al. 1988	2904569				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Lancet. 1988 Dec;2(8626-8627):1442-6	Variation of apolipoprotein-B gene is associated with obesity high blood cholesterol levels and increased risk of coronary heart disease.		107730	634	1	1988												
116940	Y	obesity	METABOLIC	MET	Obesity	2	2p24-p23	APOB	21077805	21120450		Saha N et al. 1993	8275568				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Singapore|India	KGB	338	Hs.120759			Clinical genetics. 1993 Sep;44(3):113-20	DNA polymorphisms of the apolipoprotein B gene are associated with obesity and serum lipids in healthy Indians in Singapore.		107730	635	1	1993												
116941	N	obesity	METABOLIC	MET	Obesity	2	2p24-p23	APOB	21077805	21120450		Iatsyshina SB et al. 2002	11898622				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Russia	KGB	338	Hs.120759			Genetika. 2002 Feb;38(2):285-8	Study of the association between constitutional exogenous obesity and polymorphism of the apolipoprotein B gene trans Issledovanie sviazi konstitutsional'no-ekzogennogo ozhireniia s polimorfizmom v lokuse gena apolipoproteina B.		107730	636	1	2002	Estimation of relative risk for individuals with genotype Ins/Ins did not reveal a significant association between obesity and this genotype. Thus, constitutional exogenous obesity did not prove to be associated with the Ins/Del polymorphism of the apoB gene in the Russian population.	Case patients with obesity;Control healthy individuals										
116936	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	2	2p24-p23	APOB	21077805	21120450		Hefler L 2004	14706682	R3500Q			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		107730	631	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
116937		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p24-p23	APOB	21077805	21120450		Xiang KS 1989	2562831				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Chinese	China	Y Wang	338	Hs.120759			Diabetes. 1989 Jan;38(1):17-23	Insulin-receptor and apolipoprotein genes contribute to development of NIDDM in Chinese Americans.		107730	632	1	1989												
116938	Y	obesity	METABOLIC	MET	Obesity	2	2p24-p23	APOB	21077805	21120450		Pouliot MC et al. 1994	7908536				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Arteriosclerosis and thrombosis. 1994 Apr;14(4):527-33	ApoB-100 gene EcoRI polymorphism. Relations to plasma lipoprotein changes associated with abdominal visceral obesity.		107730	633	1	1994												
116933		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	2	2p24-p23	APOB	21077805	21120450		Benes P 2000	11203157				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			Y Wang	338	Hs.120759	Complications		Atherosclerosis. 2000 Sep;152(1):257-8	Apolipoprotein B signal peptide polymorphism in relation to lipids and diabetes in male CAD patients.		107730	628	1	2000												
116934		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	2	2p24-p23	APOB	21077805	21120450		Houlston RS 1991	1685948				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			Y Wang	338	Hs.120759			Disease markers. 1991 Mar-Apr;9(2):87-96	Variation in the apolipoprotein B gene and development of type 2 diabetes mellitus.		107730	629	1	1991												
116935		gallbladder cancer	CANCER	CAN	Gallbladder Neoplasms|Cholelithiasis|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Singh MK 2004	14618390				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Indian		KGB	338	Hs.120759			Human genetics. 2004 Feb;114(3):280-3	Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.		107730	630	1	2004												
116930	Y	cholesterol gallstone disease	OTHER	OTH	Cholelithiasis	2	2p24-p23	APOB	21077805	21120450		Suo G et al. 1999	11715456				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Zhonghua yi xue za zhi. 1999 Sep;79(9):673-5	Association of polymorphisms of apolipoprotein B gene with cholesterol gallstone disease		107730	625	1	1999	 Xba1 polymorphism of apoB gene may be associated with cholesterol gallstone disease. The association, however, is not present for Ins/De1 polymorphism of apoB gene with cholesterol gallstone disease.											
116931		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Boekholdt SM 2003	12942366				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Human genetics. 2003 Oct;113(5):417-25	Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis.		107730	626	1	2003	We conclude that  all three polymorphic apoB sites are associated with altered lipid levels, but not necessarily with a consistently altered risk of IHD. These data suggest that the relationship between apoB levels, hypercholesterolemia and IHD risk cannot have a simple molecular basis in the apoB gene.											
116932		normal variation	NORMALVARIATION	NV		2	2p24-p23	APOB	21077805	21120450		Smolyanitsky AG 2003	14550622				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA~~~ HBGG~~~ D7S8~~~ GC~~~ HLA-DQA1~~~ Ig-JH~~~ D17S30~~~ ApoB and D1S80 loci in northwestern Russians.		107730	627	1	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia										
116927	Y	serum cholesterol and LDL-cholesterol levels	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Aalto-Setala K et al. 1988	2905601				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Atherosclerosis. 1988 Nov;74(2-Jan):47-54	XbaI and c/g polymorphisms of the apolipoprotein B gene locus are associated with serum cholesterol and LDL-cholesterol levels in Finland.		107730	622	1	1988												
116928	Y	lipid levels	METABOLIC	MET	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Renges HH et al. 1991	1789809				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		India|England	KGB	338	Hs.120759			Atherosclerosis. 1991 Dec;91(3):267-75	Apolipoprotein B gene polymorphisms are associated with lipid levels in men of South Asian descent.		107730	623	1	1991												
116929	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Pan JP et al. 1998	9585673				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Tiawanese		KGB	338	Hs.120759			Journal of the Formosan Medical Association. 1998 Apr;97(4):233-8	Polymorphisms of the apolipoprotein B 3' variable number of tandem repeats region associated with coronary artery disease in Taiwanese.		107730	624	1	1998	We conclude that  long apoB 3' VNTR alleles occur more frequently in CAD patients, but that apoB 3'VNTR genotypic variation has little impact on the risk of dyslipidemia in Taiwanese.											
116922	N	blood lipid parameters	OTHER	OTH	Hypercholesterolemia	2	2p24-p23	APOB	21077805	21120450	n	Hubacek JA et al. 1998	9706990				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759	childhood		Physiological research. 1998 ;47(2):89-93	Lack of an association between apolipoprotein B XbaI polymorphism and blood lipid parameters in childhood.		107730	617	1	1998												
116923	Y	intermediate density lipoprotein concentrations	OTHER	OTH		2	2p24-p23	APOB	21077805	21120450		Robinson MT et al. 1991	1773531				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Clinical genetics. 1991 Sep;40(3):178-85	Association of a genetic polymorphism in human apolipoprotein B-100 with intermediate density lipoprotein concentrations.		107730	618	1	1991												
116925	Y	cholesterol	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Aalto-Setala K et al. 1991	1684378				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Journal of lipid research. 1991 Sep;32(9):1477-87	DNA polymorphisms of the apolipoprotein B and A-I/C-III genes are associated with variations of serum low density lipoprotein cholesterol level in childhood.		107730	620	1	1991												
116919		quantitative variation in lipid and lipoprotein traits	OTHER	OTH	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Kessling A et al. 1992	1346081				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759	influence of gender and exogenous hormones		American journal of human genetics. 1992 Jan;50(1):92-106	Patterns of association between genetic variability in apolipoprotein (apo) B apo AI-CIII-AIV and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones.		107730	614	1	1992												
116920	Y	cholesterol status	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Hubacek JA et al. 2001	11471883				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Annals of clinical biochemistry. 2001 Jul;38(Pt 4):399-400	Association between apolipoprotein B promotor haplotypes and cholesterol status.		107730	615	1	2001												
116921	Y	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Schaefer JR et al. 1998	9867530				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			The New England journal of medicine. 1998 Nov;339(22):1641-2	Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.		107730	616	1	1998												
116916	Y	plasma apoB and low density lipoprotein (LDL) cholesterol levels	OTHER	OTH	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Deeb SS et al. 1992	1346774				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Human genetics. 1992 Feb;88(4):463-70	Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels.		107730	611	1	1992												
116917		peripheral arterial disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Monsalve MV et al. 1991	1676938				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Clinical genetics. 1991 Apr;39(4):260-73	Within-individual variation in serum cholesterol levels: association with DNA polymorphisms at the apolipoprotein B and AI-CIII-AIV loci in patients with peripheral arterial disease.		107730	612	1	1991												
116918	Y	familial hypobetalipoproteinemia	OTHER	OTH	Hypolipoproteinemias|Hypobetalipoproteinemias	2	2p24-p23	APOB	21077805	21120450		Swallow DM et al. 1987	3473077				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			The Journal of clinical investigation. 1987 Jun;79(6):1842-51	Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species apolipoprotein B-37; and a second associated with low plasma concentrations of apolipopr		107730	613	1	1987												
116913	Y	elevated apo B levels	OTHER	OTH	Myocardial Infarction	2	2p24-p23	APOB	21077805	21120450		Dunning AM et al. 1993	8093429				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Biochimica et biophysica acta. 1993 Jan;1165(3):271-8	A postulated phylogenetic tree for the human apolipoprotein B gene: unpredicted haplotypes are associated with elevated apo B levels.		107730	608	1	1993												
116914		coronary artery disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Wu JH et al. 1996	8665685				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Clinical chemistry. 1996 Jun;42(6 Pt 1):927-32	Apolipoprotein B 3' hypervariable repeat genotype: association with plasma lipid concentration coronary artery disease and other restriction fragment polymorphisms.		107730	609	1	1996												
116915	Y	hypobetalipoproteinemia	OTHER	OTH	Hypobetalipoproteinemias	2	2p24-p23	APOB	21077805	21120450		Wagner RD et al. 1991	1940616				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Journal of lipid research. 1991 Jun;32(6):1001-11	ApoB-54.8 a truncated apolipoprotein found primarily in VLDL is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.		107730	610	1	1991												
116910	Y	serum triglyceride levels	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Xu CF et al. 1990	1698214				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Journal of lipid research. 1990 Jul;31(7):1255-61	Apolipoprotein B signal peptide insertion/deletion polymorphism is associated with Ag epitopes and involved in the determination of serum triglyceride levels.		107730	605	1	1990												
116911	Y	coronary heart disease and serum very low density lipopro	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Paulweber B et al. 1990	1967524				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Arteriosclerosis (Dallas, Tex). 1990 Jan-Feb;10(1):17-24	Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels.		107730	606	1	1990												
116912	Y	cardiovascular	CARDIOVASCULAR	CARD	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Schaefer JR et al. 1998	9867529				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			The New England journal of medicine. 1998 Nov;339(22):1640-1; author reply 1641-2	Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.		107730	607	1	1998												
116906	Y	altered lipid levels	METABOLIC	MET	Arteriosclerosis	2	2p24-p23	APOB	21077805	21120450		Mermer B et al. 1986	2872432				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Lancet. 1986 Jun;1(8493):1301-3	Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.		107730	601	1	1986												
116907	Y	familial defective apolipoprotein B	METABOLIC	MET	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Soria LF et al. 1989	2563166				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Proceedings of the National Academy of Sciences of the United States of America. 1989 Jan;86(2):587-91	Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.		107730	602	1	1989												
116909	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p24-p23	APOB	21077805	21120450		Frossard PM et al. 1999	10205247				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		United Arab Emirates	KGB	338	Hs.120759			Hypertension. 1999 Apr;33(4):1052-6	Association of an apolipoprotein B gene marker with essential hypertension.		107730	604	1	1999	We conclude that  variations of the apoB gene, or of a nearby gene, that may be in linkage disequilibrium with these alleles play a role in the development of essential hypertension in the UAEs.											
116902		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Turner PR et al. 1995	7575777				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Europe	KGB	338	Hs.120759			Atherosclerosis. 1995 Aug;116(2):221-34	DNA polymorphisms of the apoprotein B gene are associated with altered plasma lipoprotein concentrations but not with perceived risk of cardiovascular disease: European Atherosclerosis Research Study.		107730	597	1	1995	We conclude that , although they are associated with significant differences in lipoprotein concentrations within- and between-populations, the apo B DNA polymorphisms studied are of less value as indicators of cardiovascular risk-factor status in the offspring of individuals affected by the disease.											
116903	Y	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Tybjaerg-Hansen A et al. 1998	9603795				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			The New England journal of medicine. 1998 May;338(22):1577-84	Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.		107730	598	1	1998	 The Arg3500Gln mutation in the apolipoprotein B gene, which is responsible for familial defective apolipoprotein B-100 and is present in approximately 1 in 1000 persons in Denmark, causes severe hypercholesterolemia and increases the risk of ischemic heart disease.											
116905	Y	diabetes, type 2	METABOLIC	MET	Retinal Diseases|Coronary Disease|Diabetes Mellitus, Type 2	2	2p24-p23	APOB	21077805	21120450		Ukkola O et al. 1993	8261646				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759	macro- and microangiopathy		Clinical genetics. 1993 Oct;44(4):177-84	Apolipoprotein B gene DNA polymorphisms are associated with macro- and microangiopathy in non-insulin-dependent diabetes mellitus.		107730	600	1	1993												
116899	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Machado MO et al. 2001	11170229				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	caucasian	Brazil	KGB	338	Hs.120759			Journal of clinical laboratory analysis. 2001 ;15(1):19-24	Apo B gene haplotype is associated with lipid profile of higher risk for coronary heart disease in Caucasian Brazilian men.		107730	594	1	2001	These data indicate that a single haplotype, X+Del, within the apo B gene exerts an impact on lipid metabolism and may contribute to the susceptibility to development of CHD in males from a population of Brazilians.	Case:67 patients with CHD;Control:67 age-matched healthy individuals selected from a population of Brazilians										
116900	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Ye P et al. 1995	7647320				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Chinese		KGB	338	Hs.120759			Chinese medical sciences journal. 1995 Jun;10(2):63-9	The association of polymorphisms at a VNTR locus 3' to the apolipoprotein B gene with coronary heart disease in Chinese population.		107730	595	1	1995												
116901	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Ye P et al. 1995	8546754				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Chinese		KGB	338	Hs.120759			Atherosclerosis. 1995 Sep;117(1):43-50	Association of polymorphisms of the apolipoprotein B gene with coronary heart disease in Han Chinese.		107730	596	1	1995												
116896	Y	familial defective apolipoprotein B100.	METABOLIC	MET	Hypercholesterolemia	2	2p24-p23	APOB	21077805	21120450		Ludwig EH et al. 1990	1977310				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			American journal of human genetics. 1990 Oct;47(4):712-20	Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.		107730	591	1	1990												
116897	Y	lipoprotein level	METABOLIC	MET	Hypercholesterolemia	2	2p24-p23	APOB	21077805	21120450		Leren TP et al. 1988	2906824				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Clinical genetics. 1988 Dec;34(6):347-51	Further evidence for an association between the XbaI polymorphism at the apolipoprotein B locus and lipoprotein level.		107730	592	1	1988												
116898	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450	n	Helio T et al. 1992	1732399				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Finland	KGB	338	Hs.120759			Journal of internal medicine. 1992 Jan;231(1):49-57	Lack of association between the apolipoprotein B gene 3' hypervariable region alleles and coronary artery disease in Finnish patients with angiographically documented coronary artery disease.		107730	593	1	1992												
116893	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	2	2p24-p23	APOB	21077805	21120450		Mermer B et al. 1986	3024002				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			The New England journal of medicine. 1986 Dec;315(24):1509-15	Apolipoprotein B-gene DNA polymorphisms associated with myocardial infarction.		107730	588	1	1986												
116894	Y	hypercholesterolemia coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia	2	2p24-p23	APOB	21077805	21120450		Ludwig EH et al. 1997	9254062				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Journal of lipid research. 1997 Jul;38(7):1361-73	Association of genetic variations in apolipoprotein B with hypercholesterolemia coronary artery disease and receptor binding of low density lipoproteins.		107730	589	1	1997												
116895	Y	familial defective apolipoprotein B-100 in a Chinese man	METABOLIC	MET	Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Bersot TP et al. 1993	8371062				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Chinese	California	KGB	338	Hs.120759			Journal of lipid research. 1993 Jul;34(7):1149-54	A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.		107730	590	1	1993	We conclude that  the prevalence of FDB in our ethnically diverse population is lower than that reported in previous studies of predominantly Caucasian populations and that the Chinese subject represents either an independent mutation or possibly recombination at the 3' end of the apoB gene, an event not previously described.											
116890	N	serum cholesterol	OTHER	OTH		2	2p24-p23	APOB	21077805	21120450	n	Xu CF et al. 1989	2472350				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Human genetics. 1989 Jul;82(4):322-6	Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.		107730	585	1	1989												
116891	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	2	2p24-p23	APOB	21077805	21120450	non significant	Gutierrez C et al. 1996	9064379	transition C-T position 2488	contradictory	coding sequence	Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Caucasian		KGB	338	Hs.120759			Med Clin (Barc). 1996 Nov;107(15):561-5	Apolipoprotein AI-CIII B and CII gene polymorphisms in patients with non-insulin dependent diabetes mellitus. Association with hyperlipemia trans Polimorfismos de los genes de las apolipoproteinas AI-CIII B y CII en pacientes con diabetes mellitus no		107730	586	1	1996	 The apolipoprotein CII can be related with the presence of hypertriglyceridaemia in non insulin dependent diabetes mellitus patients.	Case:53; Control:68										
116892	Y	myocardial infarction	CARDIOVASCULAR	CARD	Carotid Stenosis|Myocardial Infarction|Arteriosclerosis	2	2p24-p23	APOB	21077805	21120450		Tybjaerg-Hansen A et al. 1991	1685318				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Denmark	KGB	338	Hs.120759			Atherosclerosis. 1991 Jul;89(1):69-81	Variation of apolipoprotein B gene is associated with myocardial infarction and lipoprotein levels in Danes.		107730	587	1	1991												
116886	Y	triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Talmud, P. J.  et al. 2002	12417525				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Human molecular genetics. 2002 Nov;11(24):3039-46	Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.		606368	20454	2	2002	Thus variation in APOA5 is associated with differences in TGs in healthy men, independent of those previously reported for APOC3, while association between APOA4 and TG reflects linkage disequilibrium with these sites. The molecular mechanisms for these effects remain to be determined.	Cohort 2808 healthy middle-aged men 										
116887		atherosclerosis, coronary; lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Wong, W. M.  et al. 2003	12676816				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		Great Britain	CDC GDPinfo	116519	Hs.283923			Circulation research. 2003 May;92(9):969-75	Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels.		606368	20455	2	2003	These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV.	Cohort 2,808 healthy UK men followed for over 9 years 										
116889	Y	Plasma Lipid Levels	METABOLIC	MET	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Tai ES 2002	12006394				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			TJB	338	Hs.120759			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):805-10			107730	584	1	2002												
116882	Y	cholesterol	METABOLIC	MET		11	11q23	APOA5	116165295	116167794			16386723	Ser19Trp			Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical biochemistry. 2005	APOA5 variant Ser19Trp influences a decrease of the total cholesterol in a male 8 year cohort		606368	15242	2	2005	 Ser19 > Trp variant in the APOA5 gene may play an important role in an individual's sensitivity to dietary composition.		diet									
116884		lipids	METABOLIC	MET	Myocardial Infarction	11	11q23	APOA5	116165295	116167794		Martin, S.  et al. 2003	12697303				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Biochimica et biophysica acta. 2003 Apr;1637(3):217-25	Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges.		606368	20452	2	2003	Our results strongly support the role of APOA5 in determining plasma TG levels in an age-independent manner and highlight the importance of the APOC3/A4/A5 gene cluster in both TG and metabolic homeostasis.	Cohort 774 healthy young men who had undergone both an oral fat tolerance test and an oral glucose tolerance test 										
116885		triglycerides; atherosclerosis, coronary; hypertriglyceridemia	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794			16321685				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	French		CDC GDPinfo	116519	Hs.283923			International journal of cardiology. 2006 Jan;106(2):152-6	Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men		606368	20453	2	2006	 The APOA5 19W variant is associated with increased plasma triglycerides. However, there is no evidence that APOA5 S19W, -12,238T > C, APOA4 T347S and APCC3 -482C > T SNPs are major risk factors of CHD in French men.											
116878	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Tang, Y.  et al. 2005	16046221				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2005	A genetic variant c.553G>T in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and altered triglyceride levels in a Chinese population.		606368	15238	2	2005												
116879	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23	APOA5	116165295	116167794		Hsu, L. A.  et al. 2005	16054149				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2006 Mar;185(1):143-9	Genetic variations of apolipoprotein A5 gene is associated with the risk of coronary artery disease among Chinese in Taiwan.		606368	15239	2	2005												
116880		myocardial infarct; triglycerides	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Ruiz-Narvaez, E. A.  et al. 2005	16192625				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		Costa Rica	CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2005 Dec;46(12):2605-13	APOC3/A5 haplotypes, lipid levels, and risk of myocardial infarction in the Central Valley of Costa Rica.		606368	15240	2	2005												
116881		myocardial infarct; cholesterol, HDL	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23	APOA5	116165295	116167794			16311097				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Metabolism:  clinical and experimental. 2005 Dec;54(12):1632-5	Sex-specific effect of APOAV variant (Val153>Met) on plasma levels of high-density lipoprotein cholesterol		606368	15241	2	2005												
116874	N	height	NORMALVARIATION	NV		11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2004	15157276	(T-1131>C)			Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Lipids in health and disease [electronic resource]. 2004 May;3:10	APOAV (T-1131>C) variant has no effect on mother's height in a large population study		606368	15234	2	2004	Thus we have failed to confirm that mothers with APOAV C-1131 allele are higher than T/T-1131 homozygotes.	Cohort 1,305 females, aged between 28 and 67 years and having at least one child 										
116876	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23	APOA5	116165295	116167794		Liu, H.  et al. 2005	15877284				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Metabolism:  clinical and experimental. 2005 May;54(5):568-72	Association between DNA variant sites in the apolipoprotein A5 gene and coronary heart disease in Chinese		606368	15236	2	2005	These results suggest that both the S19W and -1131T>C variations in the APOA5 gene are associated with the CHD and appear to be 2 genetic risk factors for CHD susceptibility in Chinese. Moreover, we found that triglyceride levels were significantly higher in -1131C carriers than in -1131T subjects of the control group and that high-density-lipoprotein cholesterol was decreased in -1131C carriers among CHD patients.	Case:483 Chinese coronary heart disease patients;Control:502 control non-cononary heart disease subjects										
116877	Y	triglycerides; atherosclerosis, coronary	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Bi, N.  et al. 2005	15924804				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Feb;33(2):116-21	[Polymorphsims in the apolipoprotein A5 gene and apolipoprotein C3 gene in patients with coronary artery disease]		606368	15237	2	2005	 The APOA5-1131T/C polymorphism but not APOC3-482C/T might contribute to an increased risk of CAD among Chinese accompanied by an elevation of serum TG levels; this effect was found to be independent of the APOC3-482C/T variant.	Case:213 Chinese Han coronary artery disease patients;Control:317 healthy controls										
116871	Y	triglycerides; cholesterol, LDL	METABOLIC	MET	Hyperlipidemias	11	11q23	APOA5	116165295	116167794		Austin, M. A.  et al. 2004	14732475				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	African American	Japan	CDC GDPinfo	116519	Hs.283923			Biochimica et biophysica acta. 2004 Jan;1688(1):9-Jan	Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans		606368	15231	2	2004	The frequency of the rare allele was higher than reported for Caucasian, Hispanic, and African Americans, but similar to that in Japan and China. Therefore, the haplotype containing the -1131C and -3G variants, and possibly specifically the -3A>G SNP in APOA5, may be a major genetic determinant of LDL particle size and TG levels among ethnic Asians.	Control:24 matched normotriglyceridemic controls;Case:24 hypertriglyceridemic subjects										
116872		cardiovascular disease; lipid metabolism disorders	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipoproteinemias	11	11q23	APOA5	116165295	116167794		Wung, S. F.  et al. 2003	14959997				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		San Francisco	CDC GDPinfo	116519	Hs.283923			Research and theory for nursing practice. 2003 ;17(4):281-99; discussion 335-8	Gender and ethnic differences in a case-control study of dyslipidemia: using the apolipoprotein A-Vgene as an exemplar in cardiovascular genetics		606368	15232	2	2003	In summary, we found significant ethnic-specific and gender-based differences in the frequency of the minor allele of the -1131 APOA-V gene promoter polymorphism. Identification of genetic variations among ethnic groups and between genders may have significant potential for a better understanding of the development of cardiovascular disease.	Case individuals with dyslipidemia;Control:controls										
116873		cholesterol; triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2004	15046561				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Caucasian		CDC GDPinfo	116519	Hs.283923			Physiological research. 2004 ;53(2):225-8	New variants in the apolipoprotein AV gene in individuals with extreme triglyceride levels		606368	15233	2	2004	We did not detect carriers of the Gly185 allele among patients or 420 healthy individuals. We suppose that this variant is probably not present in Caucasian populations	Control:2,559 unrelated Caucasians;Case:83 unrleated patients with extreme lipid paramaters										
116867	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Kao, J. T.  et al. 2003	12915450				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Human molecular genetics. 2003 Oct;12(19):2533-9	A novel genetic variation of apolipoprotein A5 gene is associated with hypertriglyceridemia		606368	15227	2	2003	These findings suggest the possible use of c.553G > T polymorphisms on APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese.	Case Chinese hypertriglyceridemic patients;Control:controls										
116868	Y	triglycerides	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Lai, C. Q.  et al. 2003	12951359				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		Singapore	CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2003 Dec;44(12):2365-73	The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore.		606368	15228	2	2003	These data suggest that APOA5 plays a role in the ethnic differences observed for plasma TG and HDL cholesterol concentrations.	Cohort 3,971 Singaporeans Singapore 										
116870		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis|Disease Progression	11	11q23	APOA5	116165295	116167794		Talmud, P. J.  et al. 2004	14729863				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2004 Apr;45(4):750-6	APOA5 gene variants, lipoprotein particle distribution and progression of coronary heart disease: results from the LOCAT study		606368	15230	2	2004	There was no effect of genotype on the response of these parameters to gemfibrozil treatment. These results shed new light on the role of APOA5 variants in TG metabolism and CHD risk.	Cohort post by-pass men from the LOCAT gemfibrozil study 	gemfibrozil									
116863		cholesterol; triglycerides; lipoproteins	METABOLIC	MET	Coronary Disease	11	11q23	APOA5	116165295	116167794			16386743				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2005	A single nucleotide polymorphism of the apolipoprotein A-V gene -1131T>C modulates postprandial lipoprotein metabolism		606368	8712	2	2005												
116865	Y	triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Pennacchio, L. A.  et al. 2002	12417524				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	African American		CDC GDPinfo	116519	Hs.283923			Human molecular genetics. 2002 Nov;11(24):3031-8	Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.		606368	15222	2	2002	These findings establish that the APOA5 locus contributes significantly to inter-individual variation in plasma triglyceride levels in humans. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25-50% of African-Americans, Hispanics and Caucasians and support the contribution of common human variation to quantitative phenotypes in the general population.	Cohort 264 Caucasian men and women with plasma triglyceride concentrations above the 90th percentile or below the 10th percentile Cohort 2660 randomly selected individuals Cohort 419 Caucasian men and women studied while consuming their self-selected diets as well as after high-carbohydrate diets and high-fat diets 										
116866		hyperlipidemia	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Masana, L.  et al. 2003	12747596				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):517-21	The apolipoprotein AV gene and diurnal triglyceridaemia in normolipidaemic subjects.		606368	15226	2	2003	In summary, the APOAV assessed by means of the -1131T>C variant seemed to have a paradoxical effect on postprandial lipaemia when compared to fasting TG levels.	Cohort 88 healthy volunteers 										
116859	Y	body mass; lipids	METABOLIC	MET	Obesity|Weight Loss	11	11q23	APOA5	116165295	116167794		Aberle, J.  et al. 2005	15996212				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical genetics. 2005 Aug;68(2):152-4	A polymorphism in the apolipoprotein A5 gene is associated with weight loss after short-term diet.		606368	8707	2	2005			diet									
116860		triglycerides; atherosclerosis, coronary; lipids	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2|Diabetes Complications|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Yan, S. K.  et al. 2005	16006256				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		China	CDC GDPinfo	116519	Hs.283923			Clinical chemistry and laboratory medicine. 2005 ;43(6):607-12	Apolipoprotein A5 gene polymorphism -1131T-->C:association with plasma lipids and type 2 diabetes mellitus with coronary heart disease in Chinese.		606368	8708	2	2005												
116861		hyperlipidemia	METABOLIC	MET	Hyperlipoproteinemia Type III	11	11q23	APOA5	116165295	116167794		Evans, D.  et al. 2005	16143024				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical genetics. 2005 Oct;68(4):369-72	Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia.		606368	8709	2	2005												
116862		myocardial infarct; diabetes, type 2; hypertension; cancer; depression; dementia; cerebrovascular disease;	CANCER	CAN	Disease	11	11q23	APOA5	116165295	116167794			16375582				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical chemistry and laboratory medicine. 2006 ;44(1):32-6	APO A-V-1131T-->C polymorphism frequency and its association with morbidity in a Brazilian elderly population		606368	8711	2	2006												
116855	Y	triglycerides	METABOLIC	MET	Coronary Artery Disease	11	11q23	APOA5	116165295	116167794		Klos, K. L.  et al. 2004	15604515				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	African Americans	United States	CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2005 Mar;46(3):564-71	APOA5 polymorphisms influence plasma triglycerides in young, healthy African Americans and whites of the CARDIA Study.		606368	8703	2	2004	The results of our study suggest a small, but replicable context-dependent influence of the APOA5 gene region on plasma TG levels in young, healthy individuals.	Cohort 1,075/783/1,041/932 young (18-30 years) African-American (1075 females and 783 males) and White individuals (1041females and 932 males) of the CARDIA study selected without regard to health 										
116856	N	triglycerides; atherosclerosis, coronary; diabetes, type 2	METABOLIC	MET	Coronary Artery Disease|Diabetes Mellitus, Type 2	11	11q23	APOA5	116165295	116167794		Chaaba, R.  et al. 2005	15636639				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Tunisian		CDC GDPinfo	116519	Hs.283923			Lipids in health and disease [electronic resource]. 2005 Jan;4(1):1	Association of SNP3 polymorphism in the apolipoprotein A-V gene with plasma triglyceride level in Tunisian type 2 diabetes.		606368	8704	2	2005	 In type 2 diabetic patients SNP3 is associated with triglyceride level, however there was no association between SNP3 and coronary artery disease.	Case type 2 diabetic patients:Tunisia;Control healthy subjects										
116858	Y	triglycerides; atherosclerosis, coronary	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Tang, Y.  et al. 2005	15952115				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):281-3	Association between apolipoprotein A5 - 1131T > C polymorphism and susceptibility of coronary artery disease in Chinese.		606368	8706	2	2005	 apoA5 - 1131T > C polymorphism is associated with an increased risk of CAD and is also in strong association with serum TG levels.											
116852	N	atherosclerosis, generalized	CARDIOVASCULAR	CARD		11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2004	15369751				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinica chimica acta; international journal of clinical chemistry. 2004 Oct;348(2-Jan):171-5	Genetic analysis of APOAV polymorphisms (T-1131/C, Ser19/Trp and Val153/Met): no effect on plasmaremnant particles concentrations.		606368	8700	2	2004	 We conclude that variations T-1131/C, Ser19/Trp and Val153/Met in the APOAV gene have no effect on plasma levels of remnant particles.	Cohort 285 unrelated representative selected individuals (131 men and 154 women) aged 33-72 years 										
116853	Y	cholesterol, LDL; C-reactive protein; triacylglycerol	METABOLIC	MET	Cardiovascular Diseases|Hypertriglyceridemia|DNA Damage	11	11q23	APOA5	116165295	116167794		Jang, Y.  et al. 2004	15447887				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Korean	Korea	CDC GDPinfo	116519	Hs.283923			The American journal of clinical nutrition. 2004 Oct;80(4):832-40	The -1131T-->C polymorphism in the apolipoprotein A5 gene is associated with postprandial hypertriacylglycerolemia; elevated small, dense LDL concentrations; and oxidative stress in nonobese Korean men.		606368	8701	2	2004	 Our data confirm the genetic modulation of serum fasting triacylglycerol concentrations by the APOA5 gene polymorphism and extend this observation to postprandial triacylglycerol concentrations and to markers of oxidation and inflammation. The presence of the C allele in the APOA5 promoter region at position 1131 could be a significant factor contributing to higher cardiovascular disease risk in Koreans independently of common environmental factors.	Cohort 158 healthy, nonobese subjects [n = 158; mean (+/-SEM) 										
116854	Y	triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Artery Disease	11	11q23	APOA5	116165295	116167794		Bi, N.  et al. 2004	15542401				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Molecular genetics and metabolism. 2004 Nov;83(3):280-6	A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese.		606368	8702	2	2004	These data suggest that the APOA5-1131T>C polymorphism might contribute to an increased risk of CAD among Chinese as a result of its effect on TG metabolism; this effect was found to be independent of the APOC3-482C>T variant.	Control:controls;Case:312 Chinese coronary artery disease patients										
116849	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Susceptibility|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Szalai, C.  et al. 2004	15177130			promoter	Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2004 Mar;173(1):109-14	Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease.		606368	8697	2	2004	In logistic regression models adjusted for age, gender, presence of diabetes, BMI, smoking, LDL-C, HDL-C and hypertension a significantly increased risk of developing CAD was found in patients carrying the apoA5-1131C allele, suggesting that this allele variant is an independent genetic risk factor for CAD.	Case:308 Hungarian patients with coronary artery disease;Control:310 controls recruited from the same area										
116850	Y	heart disease, ischemic	CARDIOVASCULAR	CARD		11	11q23	APOA5	116165295	116167794		Liu, H.  et al. 2004	15300628				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):335-8	[Association of APOA5 gene single nucleotide polymorphism with levels of lipids and coronary heart disease in Chinese]		606368	8698	2	2004	 The association is found between the Hae III polymorphism and CHD, There is a significant correlation between the CC genotype of the APOA5 and the levels of plasma high density lipoprotein-cholosteal in the CHD group.	Control:controls;Case Chinese Han coronary heart disease cases										
116851	N	cholesterol, HDL; triglycerides; lipoproteins	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Lee, K. W.  et al. 2004	15306190				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2004 Sep;176(1):165-72	APOA5 gene polymorphism modulates levels of triglyceride, HDL cholesterol and FERHDL but is not a risk factor for coronary artery disease.		606368	8699	2	2004	The relationship between APOA5 genotype or haplogenotype and FER(HDL) remained significant even after the addition of both HDL-C and triglyceride to the model. However, there was no association between APOA5 gene polymorphisms or haplotypes and coronary artery disease as determined by angiography.	Cohort 537 individuals referred for angiography between 1993 and 1995 from the Vancouver SCA Cohort 										
116846	Y	triglycerides	METABOLIC	MET	Coronary Disease|Hyperlipidemias	11	11q23	APOA5	116165295	116167794		Evans, D.  et al. 2003	12937897				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Journal of molecular medicine (Berlin, Germany). 2003 Oct;81(10):645-54	The single nucleotide polymorphism -1131T>C in the apolipoprotein A5 (APOA5) gene is associated with elevated triglycerides in patients with hyperlipidemia		606368	8694	2	2003	Thus additional genetic and/or metabolic factors are required in order for the triglyceride raising and HDL lowering effect of the -1131T>C polymorphism in APOA5 to be expressed.	Cohort 915 patients attending a lipid outpatient clinic 										
116847	Y	myocardial infarct; triglycerides	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2004	14984471				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Clinical genetics. 2004 Feb;65(2):126-30	The influence of APOAV polymorphisms (T-1131>C and S19>W) on plasma triglyceride levels and risk of myocardial infarction		606368	8695	2	2004	We conclude that  variations in the APOAV gene not only play a role in genetic determination of triglyceride levels but also could influence risk of MI.	Cohort 1,191/1,368 males (n=1191) and females (n=1368) selected from the Czech population 										
116848		cholesterol, HDL; triglycerides; lipids; lipoproteins	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Li, G. P.  et al. 2004	15151505				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Clinical genetics. 2004 Jun;65(6):470-6	Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population.		606368	8696	2	2004	Our results strongly support that the two single nucleotide polymorphisms, -1131T>C in APOA5 and -482C>T in APOC3, are related to the levels of serum TG and HDL-C and those of other several lipids and lipoproteins in the Chinese population.	Cohort a healthy Chinese group 										
116843	Y	triglycerides	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Endo, K.  et al. 2002	12436249			promoter	Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Japanese	Japan	CDC GDPinfo	116519	Hs.283923			Human genetics. 2002 Dec;111(6):570-2	Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren		606368	8691	2	2002	Our data suggested that the T/C promoter region polymorphism of the APOA5 gene appears to be a genetic risk factor for hypertriglyceridemia in Japanese children.	Cohort 552 Japanese schoolchildren 										
116844	Y	lipids	METABOLIC	MET	Cardiovascular Diseases|Hypolipoproteinemias|Hyperlipidemias|Hyperlipoproteinemias	11	11q23	APOA5	116165295	116167794		Aouizerat, B. E.  et al. 2003	12671030				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2003 Jun;44(6):1167-73	Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipids.		606368	8692	2	2003	The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, hyperalphalipoproteinemia and in controls. These findings indicate that APOAV is an important determinant of plasma triglyceride, lipoprotein cholesterol and is potentially a risk factor for cardiovascular disease.	Case dyslipidemic populations from Chinese, Hispanic and European ethnic populations;Control control population										
116845	Y	triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Baum, L.  et al. 2003	12752569				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Chinese		CDC GDPinfo	116519	Hs.283923			Clinical genetics. 2003 May;63(5):377-9	APOA5-1131T>C polymorphism is associated with triglyceride levels in Chinese men.		606368	8693	2	2003	The C allele is more common in Chinese than in Caucasians (26-40% vs. 8% of alleles), suggesting that the impact of this polymorphism on triglyceride levels in the population and therefore on public health is greater among Chinese.	Cohort 167 Chinese men chosen for having either high (>/=1.7 mm, n = 82) or low ( 										
116838		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	11	11q23	APOA4	116196627	116199221		Zee, R. Y.  et al. 2002	12082592				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		107690	27376	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
116839		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	11	11q23	APOA4	116196627	116199221		Navarro-Lopez, F.   2002	11975906				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		107690	27377	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
116840	Y	obesity	METABOLIC	MET	Obesity	11	11q23	APOA5	116165295	116167794		Fiegenbaum M et al. 2003	12664082				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			KGB	116519	Hs.283923			International journal of obesity and related metabolic disorders. 2003 Apr;27(4):484-90	Further evidence for the association between obesity-related traits and the apolipoprotein A-IV gene.		606368	6852	1	2003	 Our data suggest that the APOA-IV gene polymorphisms investigated are associated with obesity-related traits. The effects of X*2 and 347Ser variants on BMI and the 360His variant on waist circumference depended on smoking status.											
116835		longevity	AGING	AGE		11	11q23	APOA4	116196627	116199221		Garasto, S.  et al. 2003	12556235				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Annals of human genetics. 2003 Jan;67(Pt 1):54-62	The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects.		107690	20449	2	2003	A significant age-related variation of the APOA1 gene pool was observed in males. An analysis of the allele average effect exerted by APOA1-MspI-RFLP A/P alleles (Absence/Presence of the restriction site) on lipidemic parameters in 46-80 year old males showed that allele A decreased, while allele P significantly increased, serum LDL-cholesterol. Unexpectedly, the P allele was over-represented in the group of the oldest old subjects, thus giving evidence of another "genetic paradox of centenarians".	Cohort 800 subjects in a healthy ageing population whose ages ranged from 18-109 years 										
116836		cholesterol; cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Franca, E.  et al. 2005	15962178				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Brazilian journal of medical and biological research. 2005 Apr;38(4):535-41	APOA1/C3/A4 gene cluster variability and lipid levels in Brazilian children.		107690	20450	2	2005												
116837		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Han, Z.  et al. 2002	12116231				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		Micronesia	CDC GDPinfo	337	Hs.591940			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		107690	24042	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
116832		hyperuricemia	METABOLIC	MET	Hyperuricemia	11	11q23	APOA4	116196627	116199221		Cardona, F.  et al. 2005	15868628				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			The Journal of rheumatology. 2005 May;32(5):903-5	Response to a Urate-Lowering Diet According to Polymorphisms in the Apolipoprotein AI-CIII-AIV Cluster		107690	20446	2	2005	 The response of the biological variables to a urate-lowering diet was mainly influenced by diet. Changes in triglycerides were also influenced by the apolipoprotein AI XmnI polymorphism (p = 0.04), suggesting a gene-diet interaction (p = 0.03).	Cohort 64 men with hyperuricemia 	diet									
116833		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Morcillo, S.  et al. 2005	15910632				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		Spain	CDC GDPinfo	337	Hs.591940			Diabetic medicine. 2005 Jun;22(6):782-8	Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus.		107690	20447	2	2005	 Pending confirmation in prospective studies, the AA genotype of the MspI polymorphism of the Apo AI gene, within the Apo A-I/C-III/A-IV cluster, seems to be a risk factor for Type 2 diabetes mellitus.	Cohort 1,224 persons selected randomly from the town of Pizarra in the province of Malaga southern Spain 										
116834		cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness	METABOLIC	MET	Coronary Disease|Hyperlipidemia, Familial Combined|Obesity	11	11q23	APOA4	116196627	116199221		Voors-Pette, C.  et al. 2001	11472750				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2001 Aug;157(2):481-9	Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity		107690	20448	2	2001	 Men with FCHL have a severely increased risk of CAD, that appears to be mediated through genetic relation to the proband as the strongest independent risk factor for CAD, followed by increased WHR.											
116829		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Islam, M. S.  et al. 2005	15823278				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Finnish	Finland	CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2005 May;180(1):79-86	Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study.		107690	20443	2	2005	No significant association between apoB XbaI polymorphism and carotid IMT was found. However, serum total and LDL cholesterol and apoB concentrations were significantly different among apoB genotype groups (p<0.001 for all traits). The apoA-I/C-III/A-IV SstI polymorphism is associated with carotid IMT in young Finns.	Cohort 214 individuals as a random sub-sample from the 'Cardiovascular Risk in Young Finns' study Finland 										
116830	N	kidney transplant complications	IMMUNE	IMM		11	11q23	APOA4	116196627	116199221		Cofan, M.  et al. 2003	12962772				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Transplantation proceedings. 2003 Aug;35(5):1725-6	Effect of apolipoprotein polymorphisms in renal transplant recipients.		107690	20444	2	2003	In conclusion, there was no significant influence of apolipoprotein polymorphisms on renal and patient survival.	Cohort 516 kidney transplant patients 										
116831		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23	APOA4	116196627	116199221		Liu, S.  et al. 2004	15488874				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2004 Nov;177(1):119-26	A prospective study of the APOA1 XmnI and APOC3 SstI polymorphisms in the APOA1/C3/A4 gene cluster and risk of incident myocardial infarction in men.		107690	20445	2	2004	 In this prospective study of apparently healthy middle-aged US men, carriers of the X1-S2 haplotype in the APOA1 XmnI and APOC3 SstI variants across the APOA1/C3/A4 gene cluster had higher TG levels, but there was no evidence for significant associations between these two common variants or haplotypes defined by them and risk of incident MI in this cohort.	Control:373 age- and smoking-matched controls from the Physicians' Health Study;Case:385 incident cases of myocardial infarct from the Physicians' Health Study										
116825		cholesterol, HDL; cholesterol, LDL; lathosterol	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Plat, J.  et al. 2002	11952809				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			European journal of clinical investigation. 2002 Apr;32(4):242-50	Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption		107690	17497	2	2002	 These findings suggest that all subjects who want to lower their cholesterol concentration, will benefit from plant stanol ester consumption, irrespective of their apoA-IV, SR-BI, HMG-CoA reductase, CETP, or apoE genotype.	Cohort 112 nonhypercholesterolemic subjects, of whom 70 consumed 3 small middle dot8-4 small middle dot0 g plant stanol esters a day for 8 weeks 	plant stanol esters									
116826		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	11	11q23	APOA4	116196627	116199221		Miltiadous, G.  et al. 2005	15864114				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Pharmacogenetics and genomics. 2005 Apr;15(4):219-25	Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.		107690	18006	2	2005												
116827		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	11	11q23	APOA4	116196627	116199221		van Aalst-Cohen, E. S.  et al. 2005	16030523				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		107690	20441	2	2005			alcohol beta blockers body mass smoking (tobacco)									
116822		triglycerides	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Ribalta, J.  et al. 2005	15764642				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		107690	15269	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
116823		cholesterol; lipids	METABOLIC	MET	Coronary Disease	11	11q23	APOA4	116196627	116199221			16326171				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2006 Jan;184(1):113-20	Associations between plasma lipid parameters and APOC3 and APOA4 genotypes in a healthy population are independent of dietary cholesterol intake		107690	15273	2	2006			cholesterol									
116824		lipoprotein	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Singh, P. P.  et al. 2002	12495081				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Indian		CDC GDPinfo	337	Hs.591940			Human biology; an international record of research. 2002 Oct;74(5):673-82	Genetic variation of apolipoproteins in North Indians.		107690	15316	2	2002	Overall, this study highlights the usefulness of apolipoproteins as genetic markers for clinical, population, and anthropological studies.	Cohort nine endogamous populations of Punjab, North India Punjab, North India 										
116819	Y	triglycerides	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Talmud, P. J.  et al. 2002	12417525				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Human molecular genetics. 2002 Nov;11(24):3039-46	Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.		107690	15223	2	2002	Thus variation in APOA5 is associated with differences in TGs in healthy men, independent of those previously reported for APOC3, while association between APOA4 and TG reflects linkage disequilibrium with these sites. The molecular mechanisms for these effects remain to be determined.	Cohort 2808 healthy middle-aged men 										
116820	Y	atherosclerosis, coronary; lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Wong, W. M.  et al. 2003	12676816				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		Great Britain	CDC GDPinfo	337	Hs.591940			Circulation research. 2003 May;92(9):969-75	Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels.		107690	15224	2	2003	These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV.	Cohort 2,808 healthy UK men followed for over 9 years 										
116821		lipids	METABOLIC	MET	Myocardial Infarction	11	11q23	APOA4	116196627	116199221		Martin, S.  et al. 2003	12697303				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Biochimica et biophysica acta. 2003 Apr;1637(3):217-25	Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges.		107690	15225	2	2003	Our results strongly support the role of APOA5 in determining plasma TG levels in an age-independent manner and highlight the importance of the APOC3/A4/A5 gene cluster in both TG and metabolic homeostasis.	Cohort 774 healthy young men who had undergone both an oral fat tolerance test and an oral glucose tolerance test 										
116816	N	cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Larson, I.  et al. 2002	12121350				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Clinical genetics. 2002 Jun;61(6):430-6	Effects of apolipoprotein A-IV genotype on glucose and plasma lipoprotein levels.		107690	15218	2	2002	These data are consistent with the concept that the apo A-IV 360 and 347 genotypes have no significant effect on apo A-IV levels and other lipid parameters in either gender. However, apo A-IV 360 1/2 genotype did have a significant effect on serum glucose levels in women.	Cohort 373/361 men (n=373) and women (n=361) with a mean age of about 57 years 	alcohol medication, NOS smoking (tobacco)									
116817	Y	obesity	METABOLIC	MET	Obesity	11	11q23	APOA4	116196627	116199221		Fiegenbaum, M.  et al. 2003	12664082				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			International journal of obesity and related metabolic disorders. 2003 Apr;27(4):484-90	Further evidence for the association between obesity-related traits and the apolipoprotein A-IV gene.		107690	15219	2	2003	 Our data suggest that the APOA-IV gene polymorphisms investigated are associated with obesity-related traits. The effects of X*2 and 347Ser variants on BMI and the 360His variant on waist circumference depended on smoking status.	Cohort 391 individuals (171 men and 220 women) 										
116818	Y	obesity; depression; cerebrovascular disease	METABOLIC	MET	Cerebrovascular Disorders|Obesity|Genetic Predisposition to Disease|Depressive Disorder	11	11q23	APOA4	116196627	116199221		Ejchel, T. F.  et al. 2005	15806598				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		Brazil	CDC GDPinfo	337	Hs.591940			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):65-8	Association of the apolipoprotein A-IV: 360 Gln/Hispolymorphism with cerebrovascular disease, obesity, and depression in a Brazilian elderly population.		107690	15220	2	2005	This study indicates that the presence of the rare allele in elderly people can play a significant role in the occurrence of multifactorial diseases. This is the first study analyzing this polymorphism in elderly people in Brazil. More studies should be encouraged to elucidate the mechanisms involved in these diseases.	Cohort 383 elderly individuals, who were participants of a longitudinal study commenced in 1991 Brazil 										
116813		body mass; lipids	METABOLIC	MET	Arteriosclerosis|Obesity	11	11q23	APOA4	116196627	116199221		Fisher, R. M.  et al. 1999	9925658				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Journal of lipid research. 1999 Feb;40(2):287-94	Effect of variation in the apo A-IV gene on body mass index and fasting and postprandial lipids in the European Atherosclerosis Research Study II. EARS Group		107690	15215	2	1999	There were no significant differences in rare allele frequency between cases (offspring of fathers who suffered a myocardial infarction before the age of 55 years) and controls. Control subjects who were carriers of Ser347 had significantly	Case offspring of fathers who suffered a myocardial infarction before the age of 55 years;Control:controls	fat									
116814	Y	choesterol absorption	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Weinberg, R. B.  et al. 2000	11108737				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Journal of lipid research. 2000 Dec;41(12):2035-41	Effect of apolipoprotein A-IV genotype and dietary fat on cholesterol absorption in humans.		107690	15216	2	2000	We conclude that  a complex interaction between apoA-IV genotype and dietary fatty acid composition modulates fractional intestinal cholesterol absorption in humans.	Cohort a group of subjects receiveing high cholesterol diets with different fatty acid compositions 	fat, dietary									
116815	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA4	116196627	116199221		Bai, H.  et al. 2002	11941585				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Chinese	China	CDC GDPinfo	337	Hs.591940			Zhonghua yi xue yi chuan xue za zhi. 2002 Apr;19(2):115-9	[Variations of apolipoprotein A IV gene in Chinese endogenous hypertriglyceridemics]		107690	15217	2	2002	 These results suggest that Msp I and codon 9 polymorphism in apoA IV gene are associated with endogenous hypertriglyceridemia to some extent in Chinese population.	Case:106 Chinese Han endogenous hypertriglyceridemics:Chengdu, China;Control:171 healthy subjects from a population of Chinese Han:nationality										
116809	Y	cholesterol, LDL; lipoproteins	METABOLIC	MET	Arteriosclerosis	11	11q23	APOA4	116196627	116199221		Cendoroglo, M. S.  et al. 2005	15721024				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2005 Mar;179(1):169-75	Association of apo A-IV 360 (Gln --> His) polymorphism with plasma lipids and lipoproteins:the Framingham Offspring Study.		107690	8690	2	2005	In conclusion, the apo A-IV-2 allele is associated with a modest reduction in plasma triglyceride levels in the general population.	Cohort 2,322 										
116810		triglycerides; atherosclerosis, coronary; hypertriglyceridemia	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221			16321685				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	French		CDC GDPinfo	337	Hs.591940			International journal of cardiology. 2006 Jan;106(2):152-6	Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men		107690	8710	2	2006	 The APOA5 19W variant is associated with increased plasma triglycerides. However, there is no evidence that APOA5 S19W, -12,238T > C, APOA4 T347S and APCC3 -482C > T SNPs are major risk factors of CHD in French men.											
116811		atherosclerosis, coronary; lipoprotein	CARDIOVASCULAR	CARD		11	11q23	APOA4	116196627	116199221		Koivu, T. A.  et al. 2004	15559160				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Russian		CDC GDPinfo	337	Hs.591940			Genetika. 2004 Sep;40(9):1293-5	Apolipoprotein E and A-IV polymorphisms in ethnic Russians living in Estonia.		107690	8798	2	2004	The apoA-IV-2 allele and epsilon4 allele frequency of the Russians tended to be lower than in most other European populations.	Cohort 137 Russians Estonia 										
116804		diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23	APOA4	116196627	116199221		Renard E 1991	1677323				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			Y Wang	337	Hs.591940	Complications		Diabetic medicine. 1991 May;8(4):354-60	DNA restriction polymorphisms of the apolipoprotein AI-CIII-AIV gene cluster: a genetic determinant of atherosclerosis in type 2 (non-insulin-dependent) diabetes mellitus.		107690	582	1	1991												
116805	Y	triglycerides; cholesterol, VLDL	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Hockey, K. J.  et al. 2001	11181750				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			Journal of lipid research. 2001 Feb;42(2):211-7	Effect of the apolipoprotein A-IV Q360H polymorphism on postprandial plasma triglyceride clearance.		107690	8686	2	2001	We conclude that  individuals heterozygous for the A-IV-2 allele display delayed postprandial clearance of triglyceride-rich lipoproteins.	Cohort 28 subject (14 subjects heterozygous for the A-IV-2 allele (1/2) and 14 subjects homozygous for the common allele (1/1)) 										
116807		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23	APOA4	116196627	116199221		Geethanjali, F. S.  et al. 2003	12860258				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Indian	India	CDC GDPinfo	337	Hs.591940			Atherosclerosis. 2003 Jul;169(1):121-30	Analysis of the apo(a) size polymorphism in Asian Indian populations: association with Lp(a)concentration and coronary heart disease.		107690	8688	2	2003	Together with previous studies our results indicate that the relation between apo(a) genotypes, Lp(a) levels, and CHD may be heterogeneous across ethnic groups and that it depends on the genetic architecture of the Lp(a) trait in a given population whether an association of K-IV-2 repeat length with CHD exists or not.	Case:254 coronary heart disease patients Tamil Nadu and New Delhi, India;Control:480:controls										
116800	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Wong WM et al. 2003	12676816				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		Great Britain	KGB	337	Hs.591940			Circulation research. 2003 May;92(9):969-75	Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels.		107690	578	1	2003	These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV.	Cohort 2,808 healthy UK men followed for over 9 years										
116801	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23	APOA4	116196627	116199221	n	Ji Y et al. 1999	10559562				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Japanese	Japan	KGB	337	Hs.591940			Dementia and geriatric cognitive disorders. 1999 Nov-Dec;10(6):473-5	No association between apolipoprotein A-IV codon 360 mutation and late-onset Alzheimer's disease in the Japanese population.		107690	579	1	1999	We conclude that  there was no association between apoA-IV genotype and LOAD in the Japanese population.											
116802		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	11	11q23	APOA4	116196627	116199221		Trembath RC 87	3113537				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			Y Wang	337	Hs.591940	Complications		British medical journal (Clinical research ed). 1987 Jun;294(6587):1577-8	Deoxyribonucleic acid polymorphism of the apoprotein AI-CIII-AIV gene cluster and coronary heart disease in non-insulin-dependent diabetes.		107690	580	1	1987												
116803		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23	APOA4	116196627	116199221		Kamboh MI 1992	1644426				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Hispanics	Colorado	Y Wang	337	Hs.591940			Human biology; an international record of research. 1992 Aug;64(4):605-16	Apolipoprotein A-IV genetic polymorphism and its impact on quantitative traits in normoglycemic and non-insulin-dependent diabetic Hispanics from the San Luis Valley, Colorado.		107690	581	1	1992												
116796		changes in the concentration of apo B- and apo A-I-containing lipoproteins	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		von Eckardstein A et al. 1992	1349197				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	normal population		KGB	337	Hs.591940			American journal of human genetics. 1992 May;50(5):1115-28	Nonsynonymous polymorphic sites in the apolipoprotein (apo) A-IV gene are associated with changes in the concentration of apo B- and apo A-I-containing lipoproteins in a normal population.		107690	574	1	1992												
116797	N	atherosclerosis and lipid transport	CARDIOVASCULAR	CARD	Arteriosclerosis|Hyperlipidemias	11	11q23	APOA4	116196627	116199221	n	Carrejo MH et al. 1995	8536954				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			KGB	337	Hs.591940			Genetic epidemiology. 1995 ;12(4):371-80	No association of apolipoprotein A-IV codon 347 and 360 variation with atherosclerosis and lipid transport in a sample of mixed hyperlipidemics.		107690	575	1	1995												
116798	Y	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Diabetes Complications	11	11q23	APOA4	116196627	116199221		Rewers M et al. 1994	7958503				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			KGB	337	Hs.591940			Diabetes. 1994 Dec;43(12):1485-9	ApoA-IV polymorphism associated with myocardial infarction in obese NIDDM patients. The San Luis Valley Diabetes Study.		107690	576	1	1994												
116799		serum triglyceride level	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA4	116196627	116199221		Endo K et al. 2002	12436249			promoter	Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Japanese	Japan	KGB	337	Hs.591940			Human genetics. 2002 Dec;111(6):570-2	Association found between the promoter region polymorphism in the apolipoprotein A-V gene and the serum triglyceride level in Japanese schoolchildren.		107690	577	1	2002												
116792		lipids	METABOLIC	MET	Cardiovascular Diseases	1	1q21-q23	APOA2	159458706	159460042		Pisciotta, L.  et al. 2003	14650352				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1			CDC GDPinfo	336	Hs.237658			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):202-10	Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.		107670	12184	2	2003	 Extended high-intensity PA in men aged over 40 years may modify their metabolic cardiovascular risk factors even in the presence of some unfavourable genotypes.	Case:100 men aged over 40 years who cycle 120-150 Km/week;Control:100 age-matched sedentary control	physical activity									
116794	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23	APOA4	116196627	116199221	n	Kee F 1999	10428310	Xbal			Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3		France|Ireland	KGB	337	Hs.591940			Atherosclerosis. 1999 Jul;145(1):187-95			107690	572	1	1999		Case:614; Control:764										
116795	Y	obesity	METABOLIC	MET	Obesity	11	11q23	APOA4	116196627	116199221		Lefevre M et al. 2000	10951531				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			KGB	337	Hs.591940			International journal of obesity and related metabolic disorders. 2000 Aug;24(8):945-53	Common apolipoprotein A-IV variants are associated with differences in body mass index levels and percentage body fat.		107690	573	1	2000	 These data suggest a role for apoA-IV in fat storage or mobilization and that genetic variations in the apoA-IV gene may play a role in the development of obesity.											
116789		apoA2	UNKNOWN	UNK		1	1q21-q23	APOA2	159458706	159460042		Brousseau, T.  et al. 2002	12116266				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1			CDC GDPinfo	336	Hs.237658			American journal of medical genetics. 2002 Jun;110(1):19-24	Significant impact of the highly informative (CA)n repeat polymorphism of the APOA-II gene on the plasma APOA-II concentrations and HDL subfractions:The ECTIM study.		107670	8683	2	2002	These data revive interest in evaluating the role of the APOA-II locus in the control of APOA-II plasma levels and HDL composition.	Case:594 cases of myocardial infarction from the ECTIM study;Control:763 non-treated male controls										
116790		lipids	METABOLIC	MET	Cardiovascular Diseases	1	1q21-q23	APOA2	159458706	159460042		Fullerton, S. M.  et al. 2002	12136239				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1	African American	United States|Finland	CDC GDPinfo	336	Hs.237658			Human genetics. 2002 Jul;111(1):75-87	Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variationin an African-American sample.		107670	8684	2	2002	All six sites varied in each of the larger "epidemiological" samples, and together, they defined 19 SNP haplotypes, seven with relative frequencies greater than 1% in the total sample; all of these common haplotypes had been identified earlier in the core re-sequencing survey. Here also, the African-American sample showed significantly lower SNP heterozygosity and haplotype diversity than the other two samples. The deficit of polymorphism is consistent with a population-specific non-neutral increase in the relative frequency of several haplotypes in Jackson.	Cohort 2183 individuals from African-Americans from Jackson (Miss., USA), Europeans from North Karelia (Finland), and non-Hispanic European-Americans from Rochester, (Minn., USA, (n=843, n=452, and n=888, respectively) Finland, Mississippi, Minnesota, USA 										
116791	Y	body mass	METABOLIC	MET		1	1q21-q23	APOA2	159458706	159460042		Lara-Castro, C.  et al. 2005	15833935				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1	African American		CDC GDPinfo	336	Hs.237658			Obesity research. 2005 Mar;13(3):507-12	Apolipoprotein A-II polymorphism and visceral adiposity in African-American and white women.		107670	8685	2	2005	These results indicate a significant association between the T265C APOA-II polymorphism and levels of VAT in premenopausal women. This association is present in white but not African-American women.	Cohort 237 premenopausal women (115 African-American and 122 white) 										
116785		hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11q23-q24	APOA1	116211678	116213548		Liljedahl, U.  et al. 2003	12544508				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		107680	28134	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
116786	N	plasma triglyceride concentration	METABOLIC	MET	Hypertriglyceridemia	1	1q21-q23	APOA2	159458706	159460042	n	Rajput-Williams J et al. 1989	2566309				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1	caucasian		KGB	336	Hs.237658			Atherosclerosis. 1989 May;77(1):31-6	Plasma lipoprotein lipids in relation to the MspI polymorphism of the apolipoprotein AII gene in Caucasian men. Lack of association with plasma triglyceride concentration.		107670	569	1	1989												
116787	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	1	1q21-q23	APOA2	159458706	159460042		Hong SH et al. 1998	9489233				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1	Korean	Korea	KGB	336	Hs.237658			Human biology; an international record of research. 1998 Feb;70(1):41-6	Association between apolipoprotein A2 MspI polymorphism and hypertriglyceridemia in Koreans.		107670	570	1	1998												
116788	Y	apo A-II gene polymorphism	OTHER	OTH	Coronary Artery Disease|Hyperlipidemias	1	1q21-q23	APOA2	159458706	159460042		Thorn JA et al. 1993	7678506				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1			KGB	336	Hs.237658			Biochimica et biophysica acta. 1993 Jan;1180(3):299-303	Variability of plasma apolipoprotein (apo) A-II levels associated with an apo A-II gene polymorphism in monozygotic twin pairs.		107670	571	1	1993												
116782		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Spiridonova, M. G.  et al. 2001	11507973				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Russia	CDC GDPinfo	335	Hs.93194			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		107680	24040	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
116783		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Watanabe, I.  et al. 2003	12732844				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Japanese	Japan	CDC GDPinfo	335	Hs.93194			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		107680	24041	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
116784		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	11	11q23-q24	APOA1	116211678	116213548		Navarro-Lopez, F.   2002	11975906				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		107680	26788	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
116779		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Adams, G. T.  et al. 2003	12871600				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		107680	20438	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
116780		inflammatory bowel disease; colorectal cancer; ACE activity; coronary atherosclerosis	CANCER	CAN		11	11q23-q24	APOA1	116211678	116213548		Khitrinskaia Iiu  et al. 2001	11771311				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Genetika. 2001 Nov;37(11):1553-8	[Analysis of Alu-polymorphism in Buryat populations]		107680	20439	2	2001	Analysis of autosomal Alu insertions suggests the uniformity of the Buryat gene pool											
116781		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548			11963567				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		107680	24039	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
116776		triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Souverein, O. W.  et al. 2005	15657615				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		107680	20434	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
116777		cholesterol, HDL	METABOLIC	MET	Myocardial Infarction|Hypertension	11	11q23-q24	APOA1	116211678	116213548		Shioji, K.  et al. 2004	14986172				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Japanese	Japan	CDC GDPinfo	335	Hs.93194			Journal of human genetics. 2004 ;49(3):141-7	A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population		107680	20435	2	2004	These results iYdicate that ABCA1 G(-273)C has a sigYificaYt effect oY the HDL-C level iY the geYeral JapaYese populatioY, but Yot oY the iYcideYce of MI.	Cohort 1,880 subjects recruited from the Suita Study, representing the general population in Japan Japan Cohort 598 subjects with myocardial infarction Cohort 743 subjects 										
116778		cholesterol, HDL	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Cohen, J. C.  et al. 2004	15297675				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Science. 2004 Aug;305(5685):869-72	Multiple rare alleles contribute to low plasma levels of HDL cholesterol		107680	20436	2	2004	Thus, rare alleles with major phenotypic effects contribute significantly to low plasma HDL-C levels in the general population.	Cohort individuals from a population based study 										
116773		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Masana, L.  et al. 2001	11171287				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Spanish	Spain	CDC GDPinfo	335	Hs.93194			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		107680	18031	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
116774		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548		Baroni, M. G.  et al. 2003	12964943				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Italian	Italy	CDC GDPinfo	335	Hs.93194			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		107680	18037	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
116775		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemias	11	11q23-q24	APOA1	116211678	116213548		Kay, A.  et al. 2002	12044583				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	German	Germany	CDC GDPinfo	335	Hs.93194			Atherosclerosis Supplements. 2002 May;3(1):27-33	Coronary artery disease and dyslipidemia within Europe: genetic variants in lipid transport geneloci in German subjects with premature coronary artery disease.		107680	18068	2	2002	Associations between five polymorphisms representing four lipid transport gene loci and dyslipidemia were demonstrated in this German population. It is possible that predisposition to dyslipidemia in Germany involves a particular selection of polymorphic loci, which are different from those identified in other European countries.	Cohort German population sample 										
116770		cholesterol; cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Franca, E.  et al. 2005	15962178				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Brazilian journal of medical and biological research. 2005 Apr;38(4):535-41	APOA1/C3/A4 gene cluster variability and lipid levels in Brazilian children.		107680	15270	2	2005												
116771		Alzheimer's disease; triglycerides; atherosclerosis, coronary	NEUROLOGICAL	NEUR		11	11q23-q24	APOA1	116211678	116213548		Demarchi, D. A.  et al. 2005	16136540				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			American journal of human biology. 2005 Sep-Oct;17(5):593-600	Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska.		107680	15272	2	2005												
116772		hypoalphalipoproteinemia	METABOLIC	MET	Hypolipoproteinemias|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Recalde, D.  et al. 2002	12048121				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2002 Jul;163(1):49-58	Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase andglucocerebrosidase genes in hypoalphalipoproteinemia.		107680	17976	2	2002	Our results confirm the molecular, genetic and phenotypic heterogeneity of HALP.	Cohort 66 unrelated subjects with recurrent low HDL-C 										
116767	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23-q24	APOA1	116211678	116213548		Groenendijk, M.  et al. 2001	11737222				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			European journal of clinical investigation. 2001 Oct;31(10):852-9	Two newly identified SNPs in the APO AI-CIII intergenic region are strongly associated with familial combined hyperlipidaemia.		107680	15257	2	2001	 These newly identified additional intergenic SNPs therefore provide an alternative explanation for the observed association of the SstI and MspI polymorphisms to the increased susceptibility for FCHL.	Case:159 hyperlipidemic relatives;Case:30 familial combined hyperlipidemia patients;Control:545 normolipidemic relatives (327) and spouses (218) from the same families in which the original results were obtained										
116768		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Han, Z.  et al. 2002	12116231				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Micronesia	CDC GDPinfo	335	Hs.93194			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		107680	15261	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
116769		longevity	AGING	AGE		11	11q23-q24	APOA1	116211678	116213548		Garasto, S.  et al. 2003	12556235				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Annals of human genetics. 2003 Jan;67(Pt 1):54-62	The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects.		107680	15262	2	2003	A significant age-related variation of the APOA1 gene pool was observed in males. An analysis of the allele average effect exerted by APOA1-MspI-RFLP A/P alleles (Absence/Presence of the restriction site) on lipidemic parameters in 46-80 year old males showed that allele A decreased, while allele P significantly increased, serum LDL-cholesterol. Unexpectedly, the P allele was over-represented in the group of the oldest old subjects, thus giving evidence of another "genetic paradox of centenarians".	Cohort 800 subjects in a healthy ageing population whose ages ranged from 18-109 years 										
116764		cholesterol, HDL	METABOLIC	MET	Cardiovascular Diseases	11	11q23-q24	APOA1	116211678	116213548		Ruano, G.  et al. 2005	16005460				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2006 Mar;185(1):65-9	Apolipoprotein A1 genotype affects the change in high density lipoprotein cholesterol subfractions with exercise training.		107680	15214	2	2005			physical activity									
116765		hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23-q24	APOA1	116211678	116213548		Groenendijk, M.  et al. 2001	11181747				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Journal of lipid research. 2001 Feb;42(2):188-94	New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia		107680	15253	2	2001	While these effects can be attributed to the presence of the M2 and S2 minor alleles, these results suggest that the importance of specific allelic haplotypes may be greater than single genotypic effects.	Case:159 hyperlipidemic relatives;Control:218:spouses;Control:327 normolipidemic relatives										
116766		cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness	METABOLIC	MET	Coronary Disease|Hyperlipidemia, Familial Combined|Obesity	11	11q23-q24	APOA1	116211678	116213548		Voors-Pette, C.  et al. 2001	11472750				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2001 Aug;157(2):481-9	Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity		107680	15255	2	2001	 Men with FCHL have a severely increased risk of CAD, that appears to be mediated through genetic relation to the proband as the strongest independent risk factor for CAD, followed by increased WHR.											
116761		diabetes, type 2; cardiovascular disease	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Gazzaruso, C.  et al. 2002	12473160				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Cardiovascular diabetology [electronic resource]. 2002 Nov;1:5	Silent coronary artery disease in type 2 diabetes mellitus: the role of Lipoprotein(a), homocysteineand apo(a) polymorphism.		107680	15211	2	2002	 The present investigation shows an independent association of Lipoprotein(a), homocysteine and apo(a) polymorphism with silent CAD. Other studies are needed to establish whether these parameters are suitable for CAD screening in diabetic patients.	Case:75 patients selected from 1,971 type 2 diabetic patients showing angiographically documented coronary artery disease;Control:75 patients without coronary artery disease matched by age, sex and duration of diabetes to CAD patients										
116762		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Emanuele, E.  et al. 2004	15036610				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Neuroscience letters. 2004 Feb;357(1):45-8	Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.		107680	15212	2	2004	We conclude that  the expression of at least one apo(a) isoform may interact with other pathogenic mechanisms involved in controlling the age at onset of AD.	Control:73 age- and gender-matched healthy controls;Case:73 sporadic Alzheimer's disease patients										
116763		cholesterol, HDL; cholesterol, VLDL	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Kajinami, K.  et al. 2005	15694942				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2005 Feb;178(2):331-8	Gender-specific effects of estrogen receptor alpha gene haplotype on high-density lipoprotein cholesterol response to atorvastatin: interactionwith apolipoprotein AI gene polymorphism.		107680	15213	2	2005	In conclusion, the ESR1 haplotype was associated with a greater HDL-raising to atorvastatin in a gender-specific manner, and the interactions between ESR1 and APOA1 genotypes regarding HDL and LDL cholesterol response were also gender specific.	Cohort 338 hypercholesterolemic patients treated with atorvastatin 	atorvastatin	ESR1	PvuII-XbaI+haplotype	APOA1	83			Y		"cholesterol, HDL cholesterol, VLDL"
116758		cholesterol, LDL; cholesterol, total; apoB; apoAI	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Larson, I.  et al. 2002	12000358				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinical genetics. 2002 Mar;61(3):176-84	Effects of apolipoprotein A-I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels		107680	15208	2	2002	In conclusion, the -75 bp (G/A) polymorphism appears to have a significant effect on levels of apo B, plasma TC and LDL-C in women, while the +83 bp polymorphism seems to affect the apo A-I levels in men, and the plasma cholesterol levels in both genders.	Cohort 734 Caucasian men and women 										
116759	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Albuminuria|Coronary Artery Disease|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Gazzaruso, C.  et al. 2002	12145244				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Diabetes care. 2002 Aug;25(8):1418-24	Assessment of asymptomatic coronary artery disease in apparently uncomplicated type 2 diabetic patients: a role for lipoprotein(a) andapolipoprotein(a) polymorphism.		107680	15209	2	2002	 Our investigation reports the first evidence of an independent association of Lp(a) and apo(a) polymorphism with asymptomatic CAD. This suggests that Lp(a) levels and apo(a) phenotypes could be used together with other risk factors as markers of asymptomatic CAD in patients with diabetes.	Case:103 angiographically documented CAD type 2 diabetic:patients;Control:103 type 2 diabetics without CAD selected and matched by age, gender and duration of diabetes to patients in CAD group										
116760		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Recurrence	11	11q23-q24	APOA1	116211678	116213548		Gazzaruso, C.  et al. 2003	12468059				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			International journal of cardiology. 2003 Jan;87(1):91-8	Restenosis after intracoronary stent placement: canapolipoprotein(a) polymorphism play a role?		107680	15210	2	2003	 Our study confirms that multiple stenting, diabetes and multivessel disease are powerful predictors of restenosis after intracoronary stent implantation. On the contrary, lipoprotein(a) and apolipoprotein(a) polymorphism do not appear to be reliable markers of restenosis in patients with stent implantation.	Cohort 182 patients with a new lesion successfully treated with elective placement of one or two Palmaz-Schatz stents 										
116756		apoAI	UNKNOWN	UNK		11	11q23-q24	APOA1	116211678	116213548		Zhao, Q.  et al. 2000	11776109			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese		CDC GDPinfo	335	Hs.93194			Chinese medical journal. 2000 May;113(5):471-4	Interaction of alcohol and the G to a substitution at the promoter region of the apolipoprotein AI gene in determining plasma apolipoprotein AI levels in Yi and Han Chinese.		107680	15206	2	2000	 The present data suggest that moderate alcohol consumption and the G to A substitution could lower the risk of coronary heart disease (CHD), but the beneficial effects of one will be negated by the other.	Cohort 742 healthy Yi and Han subjects all above 15 years old 	alcohol									
116757		lipids	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Zhao, Q.  et al. 2000	11866932	(-75 bp)		promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese		CDC GDPinfo	335	Hs.93194			Zhonghua bing li xue za zhi Chinese journal of pathology. 2000 Oct;29(5):343-6	[Influence of a G/A substitution at -75 bp promoter region of apolipoprotein A I gene and wine consumption on the plasma apolipoprotein A I levels in Yi and Han Chinese]		107680	15207	2	2000	 Current data suggest that a moderate alcohol consumption or a G to A substitution could make a lower incidence of CHD, but the beneficial effect of one will be negated by the other when both factors occur simultaneously. This finding is seemed valuable for a further study on the effect of the environmental factor or genetic factor in effecting the plasma apoA I level afterwards.	Cohort 742 healthy Yi and Han healthy subjects all above 15 years old 	alcohol									
116752	N	lipids; left ventricular mass; aortic gradient; aortic valve stenosis	METABOLIC	MET	Aortic Valve Stenosis	11	11q23-q24	APOA1	116211678	116213548		Avakian, S.  et al. 2001	11903341				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinical genetics. 2001 Nov;60(5):381-4	Apolipoproteins AI, B, and E polymorphisms in severe aortic valve stenosis.		107680	8773	2	2001	Univariate analysis showed a higher prevalence of the XbaI X? genotype (p=0.007) of apo B and the apo E2 allele (p=0.034) in patients with severe AS. Apo polymorphisms were not associated with lipid levels, left ventricular mass, or the aortic gradient.	Case:62 non-diabetic patients with severe aortic valve:stenosis;Control:62 control subjects										
116753		heart disease, ischemic; lipoprotein	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Dincic, D.  et al. 2005	16053196				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Yugoslavia	CDC GDPinfo	335	Hs.93194			Wiener klinische Wochenschrift. 2005 Jun;117(12-Nov):406-11	Apolipoprotein(a) gene polymorphisms (TTTTA)n and G/A-914 affect Lp(a) levels in ischemic heart disease patients from Serbia.		107680	12210	2	2005	 These results indicate that (TTTTA)n and G/A-914 polymorphisms affect Lp(a) levels in ischemic heart disease as a consequence of the linkage disequlibrium.											
116754	Y	Lp(a)	METABOLIC	MET	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Benes, P.  et al. 2002	11931574				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Czech	Czech Republic	CDC GDPinfo	335	Hs.93194			Human biology; an international record of research. 2002 Feb;74(1):129-36	The relationship among apolipoprotein(a) polymorphisms, the low-density lipoprotein receptor-related protein, and the very low density lipoprotein receptor genes, and plasma lipoprotein(A) concentration in the Czech population.		107680	12226	2	2002	In conclusion, both APOA length polymorphisms significantly influenced plasma Lp(a) concentration in the Czech population studied, and this circumstance could explain the association in this population observed earlier between APOA (TTTTA)n polymorphism and CAD (Benes et al. 2000). Only a minor role in the regulation of plasma Lp(a) levels is suggested for the C766T LRP and the (CGG)n VLDLR polymorphisms.	Cohort Czech subjects who underwent coronary angiography Cohort Czech subjects who underwent coronary angiography 										
116749		hyperuricemia	METABOLIC	MET	Hyperuricemia	11	11q23-q24	APOA1	116211678	116213548		Cardona, F.  et al. 2005	15868628				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			The Journal of rheumatology. 2005 May;32(5):903-5	Response to a Urate-Lowering Diet According to Polymorphisms in the Apolipoprotein AI-CIII-AIV Cluster		107680	8759	2	2005	 The response of the biological variables to a urate-lowering diet was mainly influenced by diet. Changes in triglycerides were also influenced by the apolipoprotein AI XmnI polymorphism (p = 0.04), suggesting a gene-diet interaction (p = 0.03).	Cohort 64 men with hyperuricemia 	diet									
116750	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Morcillo, S.  et al. 2005	15910632				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Spain	CDC GDPinfo	335	Hs.93194			Diabetic medicine. 2005 Jun;22(6):782-8	Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus.		107680	8760	2	2005	 Pending confirmation in prospective studies, the AA genotype of the MspI polymorphism of the Apo AI gene, within the Apo A-I/C-III/A-IV cluster, seems to be a risk factor for Type 2 diabetes mellitus.	Cohort 1,224 persons selected randomly from the town of Pizarra in the province of Malaga southern Spain 		Apo AI	MspI polymorphism of Apo AI gene					Y		Type 2 diabetes
116751		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Petrovic D  et al. 2000	11055796			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Slovene		CDC GDPinfo	335	Hs.93194			Folia biologica. 2000 ;46(5):181-5	Effect of apolipoprotein E polymorphism and apolipoprotein A-1 gene promoter polymorphism on lipid parameters and premature coronary artery disease.		107680	8761	2	2000	the apoE gene polymorphism affected the total and LDL cholesterol levels, whereas neither the apoE gene polymorphism nor the apoA-1 gene promoter polymorphism were shown to be independent risk factors for CAD in Slovenia.	Control:13 healthy controls;Case:166 patients with CAD										
116746		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23-q24	APOA1	116211678	116213548		Liu, S.  et al. 2004	15488874				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2004 Nov;177(1):119-26	A prospective study of the APOA1 XmnI and APOC3 SstI polymorphisms in the APOA1/C3/A4 gene cluster and risk of incident myocardial infarction in men.		107680	8750	2	2004	 In this prospective study of apparently healthy middle-aged US men, carriers of the X1-S2 haplotype in the APOA1 XmnI and APOC3 SstI variants across the APOA1/C3/A4 gene cluster had higher TG levels, but there was no evidence for significant associations between these two common variants or haplotypes defined by them and risk of incident MI in this cohort.	Control:373 age- and smoking-matched controls from the Physicians' Health Study;Case:385 incident cases of myocardial infarct from the Physicians' Health Study										
116747	Y	myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Relvas, W. G.  et al. 2005	15585206				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2005 Jan;178(1):101-5	Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects.		107680	8752	2	2005	Therefore, among these genetic polymorphisms, TaqIB of CETP and MspI of apolipoprotein AI appeared to help significantly to identify diabetic individuals. In particular, the former may have an additional role in the primary prevention of coronary disease.	Control:100 non-diabetic middle aged individuals;Case:119 diabetic middle aged individuals										
116748	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Islam, M. S.  et al. 2005	15823278				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Finnish	Finland	CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2005 May;180(1):79-86	Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study.		107680	8757	2	2005	No significant association between apoB XbaI polymorphism and carotid IMT was found. However, serum total and LDL cholesterol and apoB concentrations were significantly different among apoB genotype groups (p<0.001 for all traits). The apoA-I/C-III/A-IV SstI polymorphism is associated with carotid IMT in young Finns.	Cohort 214 individuals as a random sub-sample from the 'Cardiovascular Risk in Young Finns' study Finland 										
116743	N	cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipids	METABOLIC	MET	Hyperlipidemias	11	11q23-q24	APOA1	116211678	116213548		Buzza, M.  et al. 2001	11572515				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Italian, Greek and Anglo-Irish populations of Australia.	Australia|Greece|Ireland|Italy	CDC GDPinfo	335	Hs.93194			Annals of human biology. 2001 Sep-Oct;28(5):481-90	Apolipoprotein AI and CIII gene polymorphisms and their association with lipid levels in Italian, Greek and Anglo-Irish populations of Australia.		107680	8732	2	2001	 Because only two statistically significant associations were detected among a number of comparisons, our data suggest that the apo AI and CIII polymorphisms play only a very limited role in mediating variation in lipid concentrations in these three ethnic groups.	Cohort normal, healthy, adults from three ethnic groups of Australia--Italian, Greek and Anglo-Irish 										
116744		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548		Izar, M. C.  et al. 2003	12754559				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Arquivos brasileiros de cardiologia. 2003 Apr;80(4):379-95	Risk Factors, biochemical markers, and genetic polymorphisms in early coronary artery disease.		107680	8743	2	2003	 Of the classical risk factors, hypertension and diabetes mellitus were independently associated with early CAD. In addition to an unfavorable lipid profile, an increase in the thrombotic risk was identified in this population. An additive effect of the APO AI-CIII genes was observed in triglyceride levels.	Case:112 coronary artery disease patients;Control:112 controls matched by sex and age										
116745	N	kidney transplant complications	IMMUNE	IMM		11	11q23-q24	APOA1	116211678	116213548		Cofan, M.  et al. 2003	12962772				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Transplantation proceedings. 2003 Aug;35(5):1725-6	Effect of apolipoprotein polymorphisms in renal transplant recipients.		107680	8744	2	2003	In conclusion, there was no significant influence of apolipoprotein polymorphisms on renal and patient survival.	Cohort 516 kidney transplant patients 										
116740	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23-q24	APOA1	116211678	116213548		Vollbach, H.  et al. 2005	16130094				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Annals of neurology. 2005 Sep;58(3):436-41	APOA1 polymorphism influences risk for early-onset nonfamiliar AD.		107680	8681	2	2005												
116741	Y	triglycerides; hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	11	11q23-q24	APOA1	116211678	116213548			16309370				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinical chemistry and laboratory medicine. 2005 ;43(12):1339-45	APOA1 polymorphisms are associated with variations in serum triglyceride concentrations in hypercholesterolemic individuals		107680	8682	2	2005	 Our data suggest that APOA1 polymorphisms are associated with variations of baseline serum concentrations of triglyceride and VLDL-cholesterol and in response to atorvastatin in a gender-specific manner.		atorvastatin									
116742		paraoxonase-1 specific activity	NORMALVARIATION	NV		11	11q23-q24	APOA1	116211678	116213548		James, R. W.  et al. 2005	15900219			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Pharmacogenetics and genomics. 2005 Jun;15(6):441-6	Paraoxonase-1 promoter polymorphism C--107T and serum apolipoprotein AI interact to modulate serum paraoxonase-1 status.		107680	8725	2	2005	 Enzyme inactivation giving rise to modulated activity per unit mass of peptide is not a major contributor to pathological effects of disease on serum paraoxonase-1 status. The C--107T polymorphism and serum apolipoprotein AI have major impacts individually on SP and also provide an example of gene-environment interaction to modulate such activities. These effects accentuate the differences between--107C and--107T allele carriers in terms of serum paraoxonase-1 status. The data underline the complexity of the factors that determine serum paraoxonase-1 status and suggest that the latter would benefit from therapeutic modulation of serum high density lipoproteins.	Control:controls;Case:patients										
116736	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	11	11q23-q24	APOA1	116211678	116213548		Zhao, Y. L.  et al. 2005	15782489				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2005 Feb;27(1):31-4	[Correlation between APOA gene polymorphism and intracranial aneurysm]		107680	8677	2	2005	 Correlation may exist between intracranial aneurysm and APOA gene.	Control:58 healthy controls;Case:58 patients with intracranial aneurysms										
116737	Y	lipoprotein	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Jia, L.  et al. 2005	15925353				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinica chimica acta; international journal of clinical chemistry. 2005 Oct;360(2-Jan):37-45	Relationship between plasma HDL subclasses distribution and apoA-I gene polymorphisms.		107680	8678	2	2005	 The G/A polymorphism at -78 bp of apoA-I gene was associated with changes of HDL subclasses distribution. There was a general shift towards smaller-sized HDL, which, in turn, indicated that reverse cholesterol transport (RCT) might be weakened and HDL maturation might be abnormal in the subjects with G/A mutation.	Cohort 307 Chinese subjects 										
116738		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Gazzaruso, C.  et al. 2005	15961173				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			International journal of cardiology. 2005	Lipoprotein(a), apolipoprotein(a) polymorphism and coronary atherosclerosis severity in type 2 diabetic patients.		107680	8679	2	2005	 Our data suggest that Lp(a) levels and apo(a) polymorphism may be reliable predictors of CAD severity in type 2 diabetic patients.											
116733		gout	METABOLIC	MET	Gout|Hyperlipidemias|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Cardona, F.  et al. 2004	15115711				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Annals of the rheumatic diseases. 2005 Jan;64(1):85-8	Contribution of polymorphisms in the apolipoprotein AI-CIII-AIV cluster to hyperlipidaemia in patients with gout.		107680	8674	2	2004	 Gouty patients have an altered allelic distribution in the apolipoprotein AI-CIII-AIV cluster, which could lead to changes in levels of lipoproteins. This is not caused by a single mutation but rather by a combination of different mutations.	Control:165 healthy subjects;Case:68 patinets with gout										
116734		cholesterol, HDL; triglycerides	METABOLIC	MET	Myocardial Infarction	11	11q23-q24	APOA1	116211678	116213548		Shioji, K.  et al. 2004	15258834				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Japanese		CDC GDPinfo	335	Hs.93194			Journal of human genetics. 2004 ;49(8):433-9	An association analysis between ApoA1 polymorphisms and the high-density lipoprotein (HDL) cholesterol level and myocardial infarction (MI) in Japanese.		107680	8675	2	2004	The ApoA1 T84C polymorphism is an important marker for the HDL-C level and may be a new risk marker for MI in Japanese.	Cohort 1,880 subjects recruited from the Suita study, which represents the general population in Japan Japan 										
116735		carotid atherosclerosis	CARDIOVASCULAR	CARD		11	11q23-q24	APOA1	116211678	116213548		Al-Yahyaee, S. A.  et al. 2004	15359539				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Human biology; an international record of research. 2004 Apr;76(2):307-12	Apolipoprotein A1 gene polymorphisms at the -75 bp and +83/ 84 bp polymorphic sites in healthy Omanis compared with world populations		107680	8676	2	2004	These frequencies were compared to frequencies found in other world populations.	Cohort 150 healthy Omanis Oman 										
116730		cholesterol; lipoprotein, LDL; atherosclerosis, coronary	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Calo, C. M.  et al. 2003	12974138				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Africa|Asia|Europe|France	CDC GDPinfo	335	Hs.93194			Collegium antropologicum. 2003 Jun;27(1):105-15	A pentanucleotide repeat polymorphism (TTTTA) in the apolipoprotein (a) gene--its distribution and its association with the risk of cardiovascular disease.		107680	8671	2	2003	No significant differences between the two groups have been found, but the analysis of variance showed a significant association between different genotypes and cholesterol and LDL serum levels.	Case patients or individuals with high risk of future coronary heart disease:Corsica, France;Control:controls										
116731		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Ma, Y. Q.  et al. 2003	14510906				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese	China|Hong Kong	CDC GDPinfo	335	Hs.93194			Clinical endocrinology. 2003 Oct;59(4):442-9	Association of two apolipoprotein A-I gene MspI polymorphisms with high density lipoprotein (HDL)-cholesterol levels and indices of obesity in selected healthy Chinese subjects and in patients with early-onset type 2 diabetes.		107680	8672	2	2003	 The -75AA genotype was associated with higher HDL-cholesterol levels in the selected healthy, but not diabetic, subjects. The 83T allele was associated with greater indices of obesity in the diabetic patients, and with higher HDL-cholesterol in heterozygous healthy male subjects.	Control:167 healthy control subjects;Case:482:early-onset (										
116732		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Simo, J. M.  et al. 2003	14580163				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinical chemistry and laboratory medicine. 2003 Oct;41(10):1340-4	Differences between genotyping and phenotyping methods for assessing apolipoprotein(a) size polymorphisms.		107680	8673	2	2003	In conclusion, the present study highlights the dissimilarities between phenotyping and genotyping methods for the measurement of apo(a) size and suggests that laboratories should carefully consider these relationships and the transfer of results between such methodologies.	Case:91 patients with premature myocardial infarction;Control:99 healthy volunteers										
116727	Y	stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Hemorrhage	11	11q23-q24	APOA1	116211678	116213548		Sun, L.  et al. 2003	12791946				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese	China	CDC GDPinfo	335	Hs.93194			Stroke; a journal of cerebral circulation. 2003 Jul;34(7):1617-22	Pentanucleotide TTTTA repeat polymorphism of apolipoprotein(a) gene and plasma lipoprotein(a) are associated with ischemic and hemorrhagic stroke in Chinese: a multicenter case-control study inChina.		107680	8668	2	2003	 Our results indicate for the first time that low numbers of apo(a) PNTR and plasma Lp(a) levels are independently associated with both ischemic and hemorrhagic stroke in Chinese.	Control:1,817 controls from 7 centers in China;Case:1,825 cases with stroke (44.3% cerebral atherothrombosis, 28.3% lacunar infarction, and 27.3% intracerebral:hemorrhage):China										
116728	Y	cholesterol, HDL	METABOLIC	MET	Hypercholesterolemia	11	11q23-q24	APOA1	116211678	116213548		Lahoz, C.  et al. 2003	12801612			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Atherosclerosis. 2003 Jun;168(2):289-95	Apo A-I promoter polymorphism influences basal HDL-cholesterol and its response to pravastatin therapy.		107680	8669	2	2003	We conclude that  the G/A polymorphism of the apo A-I promoter region affects not only baseline HDL-C concentrations but also its response to pravastatin treatment.	Cohort 397 hypercholesterolaemic subjects followed-up on an out-patient basis 										
116729	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548		Zou, Y.  et al. 2003	12875674				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Chinese medical journal. 2003 May;116(5):665-8	Relationships among apolipoprotein A1 gene polymorphisms, lipid levels and coronary atherosclerosis disease.		107680	8670	2	2003	 Our results suggest that changes from G to A at the -75 bp site and from C to T or G to A at the +83 bp site do increase circulating levels of apo A1 and HDL-C. And those individuals with these changes are likely to have a lower risk of developing CAD.	Control:45 Chinese controls;Case:92 Chinese patients with coronary atherosclerosis										
116724	Y	myocardial infarct; lipoprotein; cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction|Myocardial Infarction	11	11q23-q24	APOA1	116211678	116213548		Liu, X.  et al. 2002	12509922				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese	China	CDC GDPinfo	335	Hs.93194			Zhonghua yi xue za zhi. 2002 Oct;82(20):1396-400	[Relation of pentanucleotide repeat polymorphism of apolipoprotein (a) gene to plasma lipoprotein (a) level among Chinese patients with myocardial infarction and cerebral infarction]		107680	8665	2	2002	 Plasma Lp (a) is an independent risk factor for MI and cerebral infarction. PNTR of apo (a) gene was negatively correlated with Lp (a) levels both in MI group and cerebral infarction group. Association with PNTR genotype was only found in cerebral infarction, but not in MI.	Control:218/1,817 controls for myocardial infarction cases (n=218) and for cerebral infarction cases (n=1,817);Case:438/809 patients with myocardial infarction (n=438) and cerebral infarction (n=809)										
116725		stroke	CARDIOVASCULAR	CARD	Cerebral Infarction	11	11q23-q24	APOA1	116211678	116213548		Seo, J. C.  et al. 2002	12515395			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Korean	Korea	CDC GDPinfo	335	Hs.93194			Experimental & molecular medicine. 2002 Sep;34(4):294-8	Evaluation of a Apo-1/Fas promoter polymorphism in Korean stroke patients		107680	8666	2	2002	Our results, pending confirmation in a larger study, indicate that the Fas genotype may not appear to be a risk factor for stroke in Korean stroke patients.	Control:103 Korean healthy blood donors;Case:91 Korean stroke patients										
116726	Y	triglycerides; cholesterol, LDL; hyperlipidemia	METABOLIC	MET	Hyperlipidemias	11	11q23-q24	APOA1	116211678	116213548		Gonzalez-Amieva, A.  et al. 2003	12588323			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Clinical transplantation. 2003 Feb;17(1):56-62	The apo A-I gene promoter region polymorphism determines the severity of hyperlipidemia after heart transplantation		107680	8667	2	2003	 The GA genotype of the apo A-I promoter region produces a greater rise in plasma triglyceride and LDL-cholesterol levels in heart transplant patients.	Cohort 103 heart transplant recipients (93 men and 10 women, with a mean age of 47 +/- 13 yr) receiving triple immunosuppressive therapy 										
116721		cerebral infarction, atherosclerotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Arteriosclerosis	11	11q23-q24	APOA1	116211678	116213548		Wang, L.  et al. 2000	11860752				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Zhonghua liu xing bing xue za zhi. 2000 Feb;21(1):22-5	[A case control study on the distribution of apolipoprotein AI gene polymorphisms in the survivors of atherosclerosis cerebral infarction]		107680	8662	2	2000	 It is suggested that both M1 + - genotype and M1 + -/M2 + + haplotype of ApoAI gene might associate with ACI in our study.	Case:199 Han cases of atherosclerotic cerebral infarction:Beijing, China;Control:204 healthy matched by age and sex individuals selected from Chinese Han nationality:Beijing, China										
116722	Y	cholesterol, HDL	METABOLIC	MET	Hyperlipidemias	11	11q23-q24	APOA1	116211678	116213548		Tashiro, J.  et al. 2001	11866037			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Japanese		CDC GDPinfo	335	Hs.93194			Journal of atherosclerosis and thrombosis. 2001 ;8(3):95-100	Significance of a polymorphism (G-->A transition) in the -75 position of the apolipoprotein A-I gene promoter on serum high density lipoprotein-cholesterol levels in Japanese hyperlipidemic subjects.		107680	8663	2	2001	These data suggest that a G(-75)-->A transition of the apo A-I gene promoter, in addition to the common mutation of CETP gene, contributes to high HDL-C levels among hyperlipidemic patients in Japan.	Control hyperlipidemic subjects with levels of HDL-C between 40 and 70 mg/dl (Group N) and those with HDL-C < 40 mg/dl (Group L);Case:73 hyperlipidemic subjects with serum levels of high HDL-C (HDL-C > or = 70 mg/dl, Group H):Japan										
116723	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11q23-q24	APOA1	116211678	116213548		Kang, B. Y.  et al. 2002	12123106				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Korean	Korea	CDC GDPinfo	335	Hs.93194			Medical principles and practice. 2002 Apr-Jun;11(2):69-74	Apolipoprotein(a) gene polymorphism in the Korean population: is there any relevance to essentialhypertension?		107680	8664	2	2002	 The polymorphisms of these two loci on the Apo(a) gene are unlikely to contribute to the etiology of essential hypertension in the Korean population.	Control:211 normotensive individuals;Case:74 essential hypertensives:Korea										
116718		lipoprotein	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Kim, J. H.  et al. 2001	11718686				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Korean		CDC GDPinfo	335	Hs.93194			Clinica chimica acta; international journal of clinical chemistry. 2001 Dec;314(2-Jan):113-23	The apolipoprotein(a) size, pentanucleotide repeat, C/T(+93) polymorphisms of apolipoprotein(a) gene, serum lipoprotein(a) concentrations and their relationship in a Korean population		107680	8659	2	2001	 Inverse relationship between serum Lp(a) and K4 number of apo(a) was confirmed in normal Korean adults. PNRP 9/9 genotype appeared to have a reducing effect on Lp(a), but neither 9 haplotype heterozygotes of PNRP nor the T haplotype C/T(+93) affected Lp(a) concentrations in Koreans.	Cohort 132 Korean adults 										
116719	Y	cholesterol, HDL; lipids	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Ordovas, J. M.  et al. 2002	11756058				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			The American journal of clinical nutrition. 2002 Jan;75(1):38-46	Polyunsaturated fatty acids modulate the effects of the APOA1 G-A polymorphism on HDL-cholesterol concentrations in a sex-specific manner: theFramingham Study.		107680	8660	2	2002	 We found a significant gene-diet interaction associated with the APOA1 G-A polymorphism. In women carriers of the A allele, higher PUFA intakes were associated with higher HDL-cholesterol concentrations, whereas the opposite effect was observed in G/G women.	Cohort 1577 individuals from the Framingham Offspring Study (755 men and 822 women) 	polyunsaturated fatty acid									
116720	Y	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548		Hu, B.  et al. 2002	11836686				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):46-8	[A preliminary study of pentanucleotide repeat polymorphism of apolipoprotein(a) gene in coronary atherosclerotic heart disease]		107680	8661	2	2002	 These findings indicate that the PNR polymorphism of apo(a) is associated with the susceptibility to CHD, which may be involved in the development of CHD.	Control:153 normal individuals;Case:165 cases of coronary atherosclerotic heart										
116715		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	11	11q23-q24	APOA1	116211678	116213548		Buraczynska M 87	3452804				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			Y Wang	335	Hs.93194			Pol Tyg Lek. 1987 Dec;42(50):1602-5	Polymorphism of the apolipoprotein A-I gene and susceptibility to non-insulin-dependent diabetes mellitus , trans Polimorfizm genu apolipoproteiny A-I a podatnosc na cukrzycc insulinoniezalezna.		107680	568	1	1987												
116716	Y	familial combined hyperlipidaemia.	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23-q24	APOA1	116211678	116213548		Groenendijk M et al. 2001	11737222				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			European journal of clinical investigation. 2001 Oct;31(10):852-9	Two newly identified SNPs in the APO AI-CIII intergenic region are strongly associated with familial combined hyperlipidaemia.		107680	7603	1	2001	 These newly identified additional intergenic SNPs therefore provide an alternative explanation for the observed association of the SstI and MspI polymorphisms to the increased susceptibility for FCHL.	Case:159 hyperlipidemic relatives;Case:30 familial combined hyperlipidemia patients;Control:545 normolipidemic relatives (327) and spouses (218) from the same families in which the original results were obtained										
116717		cholesterol, response to; dietary fat, response to	METABOLIC	MET	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Ye, S. Q.  et al. 2000	11063469				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDPinfo	335	Hs.93194			The American journal of clinical nutrition. 2000 Nov;72(5 Suppl):1275S-1284S	Influence of genetic polymorphisms on responsiveness to dietary fat and cholesterol.		107680	8658	2	2000	An improved understanding of the influence of specific genes on lipoprotein responsiveness to dietary fat and cholesterol may allow us to identify and counsel certain individuals to avoid high-fat diets so that they may reduce their risk of developing hyperlipidemia and coronary artery disease.	Cohort Dietary Intervention Study in Children 										
116711	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23-q24	APOA1	116211678	116213548	n	Kee F 1999	10428310	XmnI and PstI			Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	?	France|Ireland	KGB	335	Hs.93194			Atherosclerosis. 1999 Jul;145(1):187-95			107680	564	1	1999		Case:614; Control:764										
116712		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Trembath RC 87	3113537				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			Y Wang	335	Hs.93194	Complications		British medical journal (Clinical research ed). 1987 Jun;294(6587):1577-8	Deoxyribonucleic acid polymorphism of the apoprotein AI-CIII-AIV gene cluster and coronary heart disease in non-insulin-dependent diabetes.		107680	565	1	1987												
116713		diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Renard E 1991	1677323				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			Y Wang	335	Hs.93194	Complications		Diabetic medicine. 1991 May;8(4):354-60	DNA restriction polymorphisms of the apolipoprotein AI-CIII-AIV gene cluster: a genetic determinant of atherosclerosis in type 2 (non-insulin-dependent) diabetes mellitus.		107680	566	1	1991												
116714		diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Disease Susceptibility	11	11q23-q24	APOA1	116211678	116213548		Buraczynska M 85	3936351				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			Y Wang	335	Hs.93194			American journal of human genetics. 1985 Nov;37(6):1129-37	Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.		107680	567	1	1985												
116707	Y	cardiac and cutaneous amyloidosis	CARDIOVASCULAR	CARD	Cardiomyopathies|Skin Diseases|Amyloidosis	11	11q23-q24	APOA1	116211678	116213548		Hamidi Asl K et al. 1999	10198255				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		United States	KGB	335	Hs.93194			Biochemical and biophysical research communications. 1999 Apr;257(2):584-8	A novel apolipoprotein A-1 variant Arg173Pro associated with cardiac and cutaneous amyloidosis.		107680	560	1	1999												
116708		increased circulating high density lipoprotein cholesterol levels	METABOLIC	MET	Hyperlipoproteinemia Type II	11	11q23-q24	APOA1	116211678	116213548		Wang XL et al. 1996	8647374				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		New South Wales	KGB	335	Hs.93194			Genetic epidemiology. 1996 ;13(1):10-Jan	New MspI polymorphism at +83 bp of the human apolipoprotein AI gene: association with increased circulating high density lipoprotein cholesterol levels.		107680	561	1	1996	We conclude that  loss of the MspI site by the C to T (+83 bp) and/or the G to A (+84 bp) transitions is highly associated with increased HDL-C levels. The association appears to be more significant than that of the G to A transition at -75 bp.											
116710	Y	decreased production rate of apolipoprotein A-I	OTHER	OTH		11	11q23-q24	APOA1	116211678	116213548		Smith JD et al. 1992	1601989			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			The Journal of clinical investigation. 1992 Jun;89(6):1796-800	Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro.		107680	563	1	1992												
116703		hyperalphalipoproteinemia	METABOLIC	MET	Hyperlipoproteinemias	11	11q23-q24	APOA1	116211678	116213548		Pagani F et al. 1990	1980685			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Journal of lipid research. 1990 Aug;31(8):1371-7	Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia.		107680	556	1	1990												
116704	Y	premature coronary artery disease and familial hypoalphalipoproteinemia	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Jaiswal AK et al. 1986	3081805				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			The New England journal of medicine. 1986 Mar;314(11):671-7	Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.		107680	557	1	1986												
116705		plasma apolipoprotein AI (apoAI) and high-density lipoprotein cholesterol (HDL) levels	OTHER	OTH	Coronary Disease|Hypertension	11	11q23-q24	APOA1	116211678	116213548		Benes P et al. 2000	10845573				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Clinical genetics. 2000 Apr;57(4):309-10	Relation between the insertion/deletion polymorphism in the gene coding for receptor associated protein (RAP) and plasma apolipoprotein AI (apoAI) and high-density lipoprotein cholesterol (HDL) levels.		107680	558	1	2000												
116699	Y	elevated serum apolipoprotein AI levels	OTHER	OTH	Translocation, Genetic	11	11q23-q24	APOA1	116211678	116213548		Saha N et al. 1994	8088506			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese	Singapore|China	KGB	335	Hs.93194			Genetic epidemiology. 1994 ;11(3):255-64	Guanidine to adenine (G/A) substitution in the promoter region of the apolipoprotein AI gene is associated with elevated serum apolipoprotein AI levels in Chinese non-smokers.		107680	552	1	1994												
116700	Y	elevated serum apolipoprotein AI and high density lipoprotein cholesterol concentrations	OTHER	OTH		11	11q23-q24	APOA1	116211678	116213548		Jeenah M et al. 1990	1977072			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Molecular biology & medicine. 1990 Jun;7(3):233-41	G to A substitution in the promoter region of the apolipoprotein AI gene is associated with elevated serum apolipoprotein AI and high density lipoprotein cholesterol concentrations.		107680	553	1	1990												
116702	N	lipid levels	METABOLIC	MET	Hyperlipidemias	11	11q23-q24	APOA1	116211678	116213548		Buzza M et al. 2001	11572515				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Italian	Australia|Greece|Ireland|Italy	KGB	335	Hs.93194			Annals of human biology. 2001 Sep-Oct;28(5):481-90	Apolipoprotein AI and CIII gene polymorphisms and their association with lipid levels in Italian Greek and Anglo-Irish populations of Australia.		107680	555	1	2001	 Because only two statistically significant associations were detected among a number of comparisons, our data suggest that the apo AI and CIII polymorphisms play only a very limited role in mediating variation in lipid concentrations in these three ethnic groups.	Cohort normal, healthy, adults from three ethnic groups of Australia--Italian, Greek and Anglo-Irish										
116696	Y	reduced HDL cholesterol and LpA-I	METABOLIC	MET	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Tilly-Kiesi M et al. 1995	7670941				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Finland	KGB	335	Hs.93194			Arteriosclerosis, thrombosis, and vascular biology. 1995 Sep;15(9):1294-306	ApoA-IHelsinki (Lys107-->0) associated with reduced HDL cholesterol and LpA-I:A-II deficiency.		107680	549	1	1995												
116697		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Wile DB et al. 1989	2569310				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Atherosclerosis. 1989 Jul;78(1):18-Sep	Apolipoprotein A-I gene polymorphisms: frequency in patients with coronary artery disease and healthy controls and association with serum apo A-I and HDL-cholesterol concentration.		107680	550	1	1989												
116698	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Pulkkinen A et al. 2000	10840998			intron	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Diabetes care. 2000 Jun;23(6):791-5	MspI polymorphism at +83 bp in intron 1 of the human apolipoprotein A1 gene is associated with elevated levels of HDL cholesterol and apolipoprotein A1 in nondiabetic subjects but not in type 2 diabetic patients with coronary heart disease.		107680	551	1	2000	 We conclude that the +83-bp polymorphism of the apo(a1) gene is associated with elevated HDL cholesterol and apo(a1) levels in Finnish nondiabetic subjects but not in patients with type 2 diabetes.											
116691		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Popanda, O.  et al. 2004	15333465				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Carcinogenesis. 2004 Dec;25(12):2433-41	Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer		107748	20194	2	2004	These results indicate that lung cancer risk is only moderately increased by single DNA repair gene variants investigated but it is considerably enhanced by specific combinations of variant alleles. Analyses of additional DNA repair gene interactions in larger population-based studies are warranted for identification of high risk subjects.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (among them 204 adenocarcinoma and 212 squamous cell carcinoma)										
116694	Y	Atherosclerosis	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23-q24	APOA1	116211678	116213548		Talmud PJ et al. 1994	8088507			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Europe	KGB	335	Hs.93194			Genetic epidemiology. 1994 ;11(3):265-80	Polymorphism in the promoter region of the apolipoprotein AI gene associated with differences in apolipoprotein AI levels: the European Atherosclerosis Research Study.		107680	547	1	1994												
116688	Y	radiotherapy sensitivity	UNKNOWN	UNK	Breast Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Chang-Claude, J.  et al. 2005	16000577				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Clinical cancer research. 2005 Jul;11(13):4802-9	Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients.		107748	14824	2	2005	 The XRCC1 399Gln or APE1 148Glu alleles may be protective against the development of acute side effects after radiotherapy in patients with normal weight.		body mass									
116689		benzene toxicity	METABOLIC	MET	DNA Damage|Chronic Disease|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Zhang, Z.  et al. 2005	16284386				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Chinese	China	CDC GDPinfo	328	Hs.73722			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2614-9	Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population.		107748	14843	2	2005												
116690		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Sigurdson, A. J.  et al. 2004	15113441				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		107748	15494	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
116685	Y	radiotherapy	UNKNOWN	UNK	Breast Neoplasms|Radiation Injuries	14	14q11.2-q12	APEX1	19993129	19995766		Andreassen, C. N.  et al. 2005	15878096				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		107748	14041	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
116686	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Ito, H.  et al. 2004	15044328	Asp312Asn			APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Japanese	Japan	CDC GDPinfo	328	Hs.73722			Carcinogenesis. 2004 Aug;25(8):1395-401	Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk		107748	14812	2	2004	These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of lung cancer attributable to cigarette smoking exposure.	Case:178 Japanese incident lung cancer cases;Control:449 age- and sex-matched controls	smoking (tobacco)									
116687	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	14	14q11.2-q12	APEX1	19993129	19995766		Shen, M.  et al. 2005	15816625				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Chinese	China	CDC GDPinfo	328	Hs.73722			Anticancer research. 2005 Jan-Feb;25(1B):537-42	Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, China.		107748	14821	2	2005	We found genetic variants in APEX1 and XRCC1 may alter the risk of lung cancer in a special population in China.	Control:122:controls;Case:122 lung cancer cases Xuan Wei		APEX123		XRCC123				Y		Lung Cancer in a special population in China
116682		lung cancer	CANCER	CAN	Neoplasms|Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Hung, R. J.  et al. 2005	16221808				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			American journal of epidemiology. 2005 Nov;162(10):925-42	Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.		107748	13003	2	2005			smoking (tobacco)									
116683		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	14	14q11.2-q12	APEX1	19993129	19995766		Zienolddiny, S.  et al. 2005	16195237				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		107748	13167	2	2005												
116684	Y	radiotherapy response	UNKNOWN	UNK	Breast Neoplasms|Fibrosis	14	14q11.2-q12	APEX1	19993129	19995766		Andreassen, C. N.  et al. 2003	14643949				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Radiotherapy and oncology. 2003 Nov;69(2):127-35	Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes.		107748	14018	2	2003	 The present study established significant correlations between five SNPs and risk of radiation-induced normal tissue reactions. These findings support the assumption that clinical normal tissue radiosensitivity should be regarded as a phenomenon dependent on the combined effect of variation in several genes and indicate that models based on multiple genetic markers may have the potential to predict normal tissue responses after radiotherapy.	Cohort 41 patients who received post-mastectomy radiotherapy in 1978-1982 										
116679		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Mathonnet, G.  et al. 2003	14625810				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		107748	10381	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
116681		neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	14	14q11.2-q12	APEX1	19993129	19995766		Olshan, A. F.  et al. 2005	15887293				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			American journal of medical genetics Part A. 2005 Jun;135(3):268-73	Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.		107748	13000	2	2005	This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.	Case:250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program;Control:350 non-malformation controls										
116676		familial amyloid polyneuropathy	OTHER	OTH	Amyloid Neuropathies|Genetic Predisposition to Disease	1	1q21-q23	APCS	157824239	157825285		Soares, M. L.  et al. 2005	15649951				Amyloid P component, serum	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001639.2	Portuguese	Portugal	CDC GDPinfo	325	Hs.507080			Human molecular genetics. 2005 Feb;14(4):543-53	Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy:complexity in a single gene disease		104770	20043	2	2005	Thus, while the TTR V30M mutation is required for disease in Portuguese patients, different genetic factors may govern the age of onset as well as the occurrence of anticipation.	Case Familial amyloid polyneuropathy patients:Portugal;Control:controls										
116677	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Tang, X.  et al. 2004	14767913				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Chinese	China	CDC GDPinfo	328	Hs.73722			Zhonghua yi xue yi chuan xue za zhi. 2004 Feb;21(1):64-7	[Study on significance of single nucleotide polymorphisms in the redox domain of aprimidinic/apurinic endonuclease/redox factor-1 gene in Chinese sporadic colorectal cancer]		107748	8657	2	2004	 The polymorphisms in the redox domain of APEX gene are irrelevant to the development of sporadic colorectal cancer, but their distribution may vary greatly among tribes.	Control:143 peripheral blood samples from healthy population;Case:150 cases of sporadic colorectal cancer										
116678		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	14	14q11.2-q12	APEX1	19993129	19995766		Krajinovic, M.  et al. 2002	11895912				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		107748	10380	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
116673		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Starinsky, S.  et al. 2004	15523694				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Israel	CDC GDPinfo	324	Hs.158932			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		175100	15945	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
116674		colorectal cancer	CANCER	CAN	Neoplasms|Colorectal Neoplasms|Chromosome Aberrations	5	5q21-q22	APC	112101482	112209835			16356174				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			BMC cancer [electronic resource]. 2005 ;5:160	Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study		175100	15946	2	2005	 CTNNB1 mutations seem to be of minor importance in sporadic colorectal cancer. The main differences in tumour and patient characteristics are found between groups of patients based on mismatch repair deficiency.											
116675		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	5	5q21-q22	APC	112101482	112209835		Malats, N.   2001	12120227				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		175100	18502	2	2001	Review article		alcohol smoking (tobacco)									
116670		colorectal cancer	CANCER	CAN		5	5q21-q22	APC	112101482	112209835		Liu, X. R.  et al. 2005	16201232				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Yi chuan xue bao. 2005 Sep;32(9):903-8	[Detection of germline mutations in the APC gene with the protein truncation test]		175100	15204	2	2005												
116671		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Zauber, N. P.  et al. 2005	15959913				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Jewish		CDC GDPinfo	324	Hs.158932			Cancer. 2005 Aug;104(4):719-29	Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.		175100	15447	2	2005	 In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use.		smoking (tobacco)									
116672		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Fearnhead, N. S.  et al. 2004	15520370				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(45):15992-7	Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.		175100	15944	2	2004	This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.	Case:124 patients with multiple adenomas;Control:483 random controls										
116667	Y	stomach cancer	CANCER	CAN		5	5q21-q22	APC	112101482	112209835		Sun, X. J.  et al. 2003	15639864	I1307K			Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Chinese		CDC GDPinfo	324	Hs.158932			Yi chuan. 2003 May;25(3):253-357	[The I1307K Mutation and Protein Expression of APC Gene in Gastric Cancer.]		175100	15201	2	2003	So it was thought that there might be no correlation between the I1307K mutation of APC gene and carcinogenesis of gastric cancer in China,but the decreased expression of APC protein was closely related to the carcinogenesis,progression and lymph node metastasisof gastric cancer.	Case:45 gastric cancer cases:China;Control:62 blood samples of susceptible population in high incidence areas of gastric cancer										
116668		colon polyps	CANCER	CAN	Adenomatous Polyposis Coli	5	5q21-q22	APC	112101482	112209835		Kairupan, C. F.  et al. 2005	15761860				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Australian	Australia	CDC GDPinfo	324	Hs.158932			International journal of cancer. Journal international du cancer. 2005 Aug;116(1):73-7	Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.		175100	15202	2	2005	The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.	Control:120 control subjects;Case:62/120 patients diagnosed with adenomatous polyposis with (n=62) and without (n=120)germline mutations in the APC gene								N		colorectal polyposis
116669		colon polyps	CANCER	CAN	Adenomatous Polyposis Coli|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Truta, B.  et al. 2005	15951963				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Familial cancer. 2005 ;4(2):127-33	A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.		175100	15203	2	2005	 Adenomatous polyposis patients without a family history are usually diagnosed with symptoms, and at a later age. Phenotypically, they are similar to those with a family history. However, germline APC mutations are detected far less frequently in patients without a family history. A small percentage of these cases may be secondary to biallelic germline MYH mutations.		family history									
116664		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colonic Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Kapitanovic, S.  et al. 2004	15507235	E1317Q, and I1307K			Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Croatia	CDC GDPinfo	324	Hs.158932			Experimental and molecular pathology. 2004 Dec;77(3):193-200	APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia.		175100	15198	2	2004	Only 1309 APC gene mutation was detected in our samples. In one tumor sample, a new sporadic mutation of the APC gene in codon 1374 was detected. APC E1317Q and I1307K germ-line variants were not detected in our population. But APC E1317Q sporadic mutation was found in one tumor sample.	Cohort Croatian colorectal cancer cases Croatia 										
116665	N	colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Bertario, L.  et al. 2004	15540296				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Diseases of the colon and rectum. 2004 Oct;47(10):1662-9	APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer.		175100	15199	2	2004	 These data do not support the hypothesis that APC mutation may influence the outcome of familial adenomatous polyposis cases affected by colorectal cancer.	Cohort 387 familial adenomatous polyposis patients with colorectal cancer 										
116666		colorectal cancer	CANCER	CAN	Fibromatosis, Abdominal|Adenomatous Polyposis Coli|Neoplasms, Second Primary|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Sturt, N. J.  et al. 2004	15542524				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Gut. 2004 Dec;53(12):1832-6	Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.		175100	15200	2	2004	 Our results indicate the influence of unknown genetic factors independent of APC in susceptibility to desmoid tumours in FAP. The data have implications in terms of clinical management of FAP patients and assessing the balance between chemoprevention and prophylactic colectomy.	Cohort FAP patients from the St Mark's Hospital Polyposis Registry 										
116661		colon polyps	CANCER	CAN	Adenomatous Polyposis Coli	5	5q21-q22	APC	112101482	112209835		De Rosa, M.  et al. 2004	15108288				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Argentina	CDC GDPinfo	324	Hs.158932			Human mutation. 2004 May;23(5):523-4	First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.		175100	15195	2	2004	Our data indicate that the genotype/phenotype correlations in Argentinean patients are similar to those observed in other populations.	Cohort 51 unrelated Argentinean probands affected by familial adenomatous polyposis 										
116662	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Guo, J.  et al. 2004	15266213	I1307K and the E1317Q			Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Chinese		CDC GDPinfo	324	Hs.158932			Genetics in medicine. 2004 Jul-Aug;6(4):237-8	APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients.		175100	15196	2	2004	 These variants are rare in these Asian populations, and play little role in colorectal cancer causation in Chinese.	Cohort 147/20/11 Chinese (n=147), Malay (n=20), and Indian (n=11) colorectal cancer patients 										
116663		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli	5	5q21-q22	APC	112101482	112209835		Konvalinka, D.  et al. 2004	15446460				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Cas Lek Cesk. 2004 ;143(8):543-6	[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis]		175100	15197	2	2004	 DGGE is an effective method for detecting mutations in the first part of exon 15 of APC gene. It allows detecting any change in DNA strand. DGGE complements PTT in scanning of the whole exon 15 of APC gene.	Cohort 122 patients with Familial Adenomatous Polyposis without detected mutations in the APC gene 										
116658		colorectal cancer	CANCER	CAN	Colonic Neoplasms	5	5q21-q22	APC	112101482	112209835		Diergaarde, B.  et al. 2003	12584179				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Netherlands	CDC GDPinfo	324	Hs.158932			Carcinogenesis. 2003 Feb;24(2):283-90	Dietary factors and the occurrence of truncating APC mutations in sporadic colon carcinomas: a Dutchpopulation-based study		175100	15192	2	2003	Our data suggest that vegetables play a protective role in the etiology of both tumor subsets, although this role appears to be less influential in the APC(+) group. Alcohol seems to especially promote the development of APC(-) tumors whereas meat, fish and fat appear to enhance the development of APC(+) tumors.	Case:184 Dutch colorectal cancer cases;Control:259:controls	alcohol diet									
116659		colorectal cancer	CANCER	CAN		5	5q21-q22	APC	112101482	112209835		Murphy, K. M.  et al. 2003	14573780				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			The Journal of molecular diagnostics. 2003 Nov;5(4):222-6	A single nucleotide primer extension assay to detect the APC I1307K gene variant.		175100	15193	2	2003	The single nucleotide extension assay provides a highly sensitive and specific assay to identify individuals with the APC I1307K gene variant who may benefit from increased colorectal screening.	Cohort 60 samples previously characterized by an allele-specific oligonucleotide (ASO) hybridization assay 										
116660		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Al-Tassan, N.  et al. 2003	14579148				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Human genetics. 2004 Jan;114(2):207-10	Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.		175100	15194	2	2003	We identified three common coding region variants, but none were over-represented in the patient samples, indicating that MYH variants are unlikely to predispose significantly to the risk of lung cancer.	Control:106 normal controls;Case:276 patients with lung carcinoma										
116655		desmoid tumors	CANCER	CAN	Epidermal Cyst|Osteoma|Fibromatosis, Abdominal|Fibromatosis, Aggressive|Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Bertario, L.  et al. 2001	11241320				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			International journal of cancer. Journal international du cancer. 2001 Mar;95(2):102-7	Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis		175100	15189	2	2001	Our results indicate that integrating genetic and clinical data is helpful in defining subgroups of patients at higher risk for desmoids, who may benefit from specific prevention programs.	Case:897 patients with familial adenomatous polyposis										
116656	N	inflammatory bowel disease	IMMUNE	IMM	Colorectal Neoplasms|Colitis|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q21-q22	APC	112101482	112209835		Silverberg, M. S.  et al. 2001	11354631				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Jewish		CDC GDPinfo	324	Hs.158932			Human genetics. 2001 Mar;108(3):205-10	Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin.		175100	15190	2	2001	Lack of an increased APC I1307K carrier rate suggests that this mutation does not account for the increased CRC susceptibility associated with IBD.	Case:306 Ashkenazi Jewish individuals with inflammatory bowel disease;Control:308 unaffected relatives ascertained from a family collection obtained for the identification of inflamatory bowel disease susceptibility genes										
116657		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Rozen, P.  et al. 2002	12173321				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Israel	CDC GDPinfo	324	Hs.158932			Cancer. 2002 May;94(10):2561-8	Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.		175100	15191	2	2002	 I1307K is a low-penetrance genetic variant that indicates a 1.7 relative risk for neoplasia in carriers who have familial carcinoma, clinically equivalent to obtaining a family history of sporadic colorectal neoplasia and promoting early screening. I1307K is a founder genetic variant in Jews of different ethnic origin, mainly Ashkenazim, but it explains only partially their higher incidence of colorectal carcinoma.	Cohort 718 consecutive Ashkenazim with a personal and/or family history of colorectal neoplasia 										
116652		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Houlston, R. S.  et al. 2001	11487538				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		175100	11344	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
116653		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Disease Progression|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Stern, H. S.  et al. 2001	11159880				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Jewish	Ontario	CDC GDPinfo	324	Hs.158932			Gastroenterology. 2001 Feb;120(2):392-400	APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews.		175100	15187	2	2001	 The high frequency of I1307K colorectal cancer patients found in the Ashkenazi Jewish community of Ottawa and the equivalent proportion of carriers and noncarriers who developed adenomatous polyps suggest that in this community, I1307K is associated with a significant predisposition to carcinoma but not adenoma.	Cohort 242 eligible, Jewish respondents who were selected because they had a personal or family history of colon cancer Ottawa 										
116654	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Slattery, M. L.  et al. 2001	11221825				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Cancer research. 2001 Feb;61(3):1000-4	A molecular variant of the APC gene at codon 1822:its association with diet, lifestyle, and risk of colon cancer		175100	15188	2	2001	These results suggest that the codon 1,822 variant of the APC gene may have functional significance. Individuals who have the valine/valine variant of this gene may be at reduced risk of colon cancer if they eat a low-fat diet.	Case:1585 incident cases of colon cancer;Control:1945 age- and sex-matched population-based controls	fat, dietary									
116650	N	colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Tranah, G. J.  et al. 2005	15824157				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):863-70	APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma.		175100	8655	2	2005	Our results suggest that cigarette smoking, alcohol intake, and family history of colorectal cancer were positively associated and regular aspirin intake was inversely associated with colorectal adenoma in men and women. No gene-environment interactions were observed with these risk factors or with other dietary risk factors previously hypothesized to interact with the APC Asp1822Val polymorphism.	Case:197 colorectal cancer cases nested within the Nurses' Health Study cohort;Case:274/375 colorectal cancer cases (n=375) and adenoma cases (n=375) nested within the Health Professionals Follow-up Study cohort ) and adenoma casse;Control:456/724 case-matched controls (n=456) and adenoma-matched controls (n=724) nested within the Health Professionals Follow-up Study cohort;Control:490 matched controls nested within the Nurses' Health Study cohort;Case:556 adenoma cases nested within the Nurses' Health Study cohort;Control:557 adenoma case-matched controls nested within the Nurses' Health Study cohort	diet									
116651		colorectal polyps	CANCER	CAN	Adenoma|Colorectal Neoplasms|Colonic Polyps	5	5q21-q22	APC	112101482	112209835		Rennert, G.  et al. 2005	16228836				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDPinfo	324	Hs.158932			Diseases of the colon and rectum. 2005 Dec;48(12):2317-21	Colorectal Polyps in Carriers of the APC I1307K Polymorphism.		175100	8656	2	2005	 Together with former evidence of I1307K being a risk factor for colorectal cancer, these data suggest that colonoscopic surveillance for colorectal adenomas and cancer may be warranted in I1307K carriers, even in the absence of other identifiable risk factors.											
116646	N	APC mutations beyond codon 1444	OTHER	OTH	Fibromatosis, Aggressive|Adenomatous Polyposis Coli|Hypertrophy	5	5q21-q22	APC	112101482	112209835	n	Caspari R et al. 1995	7795585				adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038		France|Germany	KGB	324	Hs.158932			Human molecular genetics. 1995 Mar;4(3):337-40	Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.		175100	543	1	1995												
116647		prostate cancer	CANCER	CAN	Prostatic Neoplasms	5	5q21-q22	APC	112101482	112209835		Lehrer, S.  et al. 2003	12856637				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Jewish		CDC GDPinfo	324	Hs.158932			Urologic oncology. 2003 Mar-Apr;21(2):101-4	Elevated serum triiodothyronine (t3) in Ashkenazi Jewish prostate cancer patients carrying the I1307k allele of the APC (adenopolyposis coli) gene.		175100	8652	2	2003	 Our findings of increased serum t3 level with the APC I1307K allele in prostate cancer patients is not surprising, given the mitogenic potential of t3. Further studies may clarify whether t3 elevation is the mechanism whereby APC gene mutations increase the risk of prostate cancer, or whether other pathophysiologic abnormalities are involved.	Cohort Ashkenazi Jewish prostate cancer patients 										
116648		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Niell, B. L.  et al. 2003	14624392				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Israel	CDC GDPinfo	324	Hs.158932			American journal of human genetics. 2003 Dec;73(6):1250-60	Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidenceof genetic drift within the Ashkenazim.		175100	8653	2	2003	Our data do not indicate that selection operated at I1307K (D5S346, P=.114; D5S135, P=.373), providing compelling evidence that the high frequency of disease-susceptibility alleles in the Ashkenazim is due to genetic drift, not selection. This research underscores the importance of the migratory patterns of ancestral populations in the ethnic and geographic distribution of APC I1307K.	Case:83 colorectal cancer cases;Control:83 matched controls										
116643		colorectal tumors	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Frayling IM et al. 1998	9724771				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Proceedings of the National Academy of Sciences of the United States of America. 1998 Sep;95(18):10722-7	The APC variants I1307K and E1317Q are associated with colorectal tumors but not always with a family history.		175100	540	1	1998												
116644	Y	colorectal adenocarcinomas	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Chromosome Aberrations	5	5q21-q22	APC	112101482	112209835		Leslie A 2003	12907646				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Cancer research. 2003 Aug;63(15):4656-61	Mutations of APC, K-ras~~~ and p53 are associated with specific chromosomal aberrations in colorectal adenocarcinomas.		175100	541	1	2003												
116645		familial adenomatous polyposis	CANCER	CAN	Adenomatous Polyposis Coli	5	5q21-q22	APC	112101482	112209835		Bisgaard ML 2004	14724162				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Gut. 2004 Feb;53(2):266-70	Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.		175100	542	1	2004	 The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.											
116639	Y	colorectal adenomas	CANCER	CAN	Adenoma, Villous|Colorectal Neoplasms|Colonic Polyps	5	5q21-q22	APC	112101482	112209835		De Benedetti L et al. 1994	8012980				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Cancer research. 1994 Jul;54(13):3553-6	Association of APC gene mutations and histological characteristics of colorectal adenomas.		175100	536	1	1994												
116640		oral squamous cell carcinomas	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	5	5q21-q22	APC	112101482	112209835		Kok SH et al. 2002	12165057				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Taiwan	KGB	324	Hs.158932			Journal of oral pathology & medicine. 2002 Aug;31(7):395-401	Mutations of the adenomatous polyposis coli gene in areca quid and tobacco-associated oral squamous cell carcinomas in Taiwan.		175100	537	1	2002	 These results suggest that APC mutations may also contribute to the carcinogenesis of at least some OSCCs in Taiwan, especially for the users of areca quid and tobacco.											
116641	Y	hepatocellular carcinoma	CANCER	CAN	Adenomatous Polyposis Coli|Carcinoma, Hepatocellular|Liver Neoplasms	5	5q21-q22	APC	112101482	112209835		Su LK et al. 2001	11466687				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Cancer. 2001 Jul;92(2):332-9	Biallelic inactivation of the APC gene is associated with hepatocellular carcinoma in familial adenomatous polyposis coli.		175100	538	1	2001	 To the authors' knowledge, this study provides the first evidence that biallelic inactivation of the APC gene may contribute to the development of HCC in patients with FAP.											
116636	Y	diet lifestyle and risk of colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Slattery ML et al. 2001	11221825				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Cancer research. 2001 Feb;61(3):1000-4	A molecular variant of the APC gene at codon 1822: its association with diet lifestyle and risk of colon cancer.		175100	533	1	2001	These results suggest that the codon 1,822 variant of the APC gene may have functional significance. Individuals who have the valine/valine variant of this gene may be at reduced risk of colon cancer if they eat a low-fat diet.	Case:1585 incident cases of colon cancer;Control:1945 age- and sex-matched population-based controls	fat, dietary									
116638	Y	late onset familial adenomatous polyposis	OTHER	OTH	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		van der Luijt RB et al. 1995	8522331			splice variant	Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Human genetics. 1995 Dec;96(6):705-10	APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.		175100	535	1	1995												
116633		Nasopharyngeal angiofibroma	CANCER	CAN	Angiofibroma|Nasopharyngeal Neoplasms|Neoplasm Recurrence, Local	5	5q21-q22	APC	112101482	112209835		Guertl B et al. 2000	11112217				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Human pathology. 2000 Nov;31(11):1411-3	Nasopharyngeal angiofibroma: an APC-gene-associated tumor?		175100	530	1	2000	We conclude that  alterations of the APC gene do not play a major role in the development of nasopharyngeal angiofibroma. The coincidence of nasopharyngeal angiofibromas and adenomatous polyposis coli in some families implies the possibility that another gene in this region might be responsible for the development of nasopharyngeal angiofibromas. HUM PATHOL 31:1411:1413.											
116634	Y	colon adenomas/carcinomas	CANCER	CAN	Adenoma|Carcinoma|Colonic Neoplasms|Adrenal Cortex Neoplasms|Cushing Syndrome|Hyperplasia	5	5q21-q22	APC	112101482	112209835		Yamakita N et al. 1997	9260769				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Internal medicine (Tokyo, Japan). 1997 Aug;36(8):536-42	Adrenocorticotropin-independent macronodular adrenocortical hyperplasia associated with multiple colon adenomas/carcinomas which showed a point mutation in the APC gene.		175100	531	1	1997												
116635	Y	familial adenomatous polyposis.	CANCER	CAN	Adenomatous Polyposis Coli|Common Bile Duct Neoplasms	5	5q21-q22	APC	112101482	112209835		Achille A et al. 1996	8903471				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			International journal of cancer. Journal international du cancer. 1996 Nov;68(3):305-12	APC gene mutations and allelic losses in sporadic ampullary tumours: evidence of genetic difference from tumours associated with familial adenomatous polyposis.		175100	532	1	1996												
116630	Y	adenomatous polyposis	CANCER	CAN	Fibromatosis, Aggressive|Adenomatous Polyposis Coli|Head and Neck Neoplasms	5	5q21-q22	APC	112101482	112209835		de Silva DC et al. 1996	8608492				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932	Cranial desmoid tumor		Cancer. 1996 Mar;77(5):972-6	Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.		175100	527	1	1996	 These findings are compatible with the presence of a second hit inactivation of the APC gene and implicate this gene in the pathogenesis of desmoid tumors.											
116631	Y	decreased apoptotic level	OTHER	OTH	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Venesio T et al. 2003	12527714				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Modern pathology. 2003 Jan;16(1):57-65	Germline APC mutation on the beta-catenin binding site is associated with a decreased apoptotic level in colorectal adenomas.		175100	528	1	2003												
116632	Y	adenomatous polyposis coli	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Gayther SA et al. 1994	8162051				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Human molecular genetics. 1994 Jan;3(1):53-6	Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.		175100	529	1	1994												
116626		pancreatoblastomas	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Adenomatous Polyposis Coli|Pancreatic Neoplasms	5	5q21-q22	APC	112101482	112209835		Abraham SC et al. 2001	11696422				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			The American journal of pathology. 2001 Nov;159(5):1619-27	Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas : frequent alterations in the APC/beta-catenin pathway and chromosome 11p.		175100	523	1	2001												
116627	N	sporadic ovarian carcinoma	CANCER	CAN	Adenocarcinoma|Ovarian Neoplasms|Chromosome Deletion	5	5q21-q22	APC	112101482	112209835	n	Allan GJ et al. 1994	8019564				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Human mutation. 1994 ;3(3):283-91	Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22.		175100	524	1	1994												
116628	Y	late onset of familial adenomatous polyposis	OTHER	OTH	Adenomatous Polyposis Coli	5	5q21-q22	APC	112101482	112209835		Smith-Ravin J et al. 1994	7853377				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Journal of medical genetics. 1994 Nov;31(11):888-90	APC mutation associated with late onset of familial adenomatous polyposis.		175100	525	1	1994												
116623		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15	APBB1	6372930	6374380		Prince, J. A.  et al. 2001	11436125				Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2		Sweden	CDC GDPinfo	322	Hs.372840			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		602709	24038	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
116624		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	4	4p14	APBB2	40510995	40911245		Li, Y.  et al. 2005	15714520				Amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173075.2			CDC GDPinfo	323	Hs.479602			Human mutation. 2005 Mar;25(3):270-7	Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.		602710	15186	2	2005	Our data raise the possibility that genetic variations in APBB2 may affect LOAD susceptibility.											
116625	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	5	5q31	APBB3	139918036	139924373		Tanahashi H et al. 2002	12402277				Amyloid beta (A4) precursor protein-binding, family B, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133174.2			KGB	10307	Hs.529449			Annals of neurology. 2002 Nov;52(5):691-3	c954C-->T polymorphism in the Fe65L2 gene is associated with early-onset Alzheimer's disease.		602711	6660	1	2002												
116620	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15	APBB1	6372930	6374380		Lambert, J. C.  et al. 2000	11065130				Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			CDC GDPinfo	322	Hs.372840			Neuroscience letters. 2000 Oct;293(1):29-32	A FE65 polymorphism associated with risk of developing sporadic late-onset alzheimer's disease but not with Abeta loading in brains.		602709	8649	2	2000	In conclusion, the FE65 gene may be a minor genetic determinant only for sporadic late-onset AD forms, although, we cannot conclude that this impact is mediated by a modulation of the APP process and/or Abeta peptide deposition.	Case:639 sporadic AD cases;Control:646:controls										
116621	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15	APBB1	6372930	6374380		Guenette, S. Y.  et al. 2000	11099823	Intron 13 CTA deletion	FE65a2 isoform generated binds APP less efficiently	intron	Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			CDC GDPinfo	322	Hs.372840			Neuroscience letters. 2000 Dec;296(1):17-20	Evidence against association of the FE65 gene (APBB1) intron 13 polymorphism in Alzheimer's patients.	1799755	602709	8650	2	2000	We conclude that  the association of the FE65 intron 13 polymorphism with AD, if any, is smaller than previously reported.	Control:260:subjects;Case:311 Alzheimer's disease patients										
116622	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15	APBB1	6372930	6374380		Cousin, E.  et al. 2003	12727304			intron	Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			CDC GDPinfo	322	Hs.372840			Neuroscience letters. 2003 May;342(2-Jan):8-May	A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism		602709	8651	2	2003	No statistically significant difference between the two groups was found.. By contrast, adjusting for age and sex, we found a slight risk associated with the deletion (odds ratio=1.47, 95% confidence interval=1.05-2.04). Stratification by age showed that the risk effect associated with the deletion concerned subjects aged less than 65 years.	Control:397 matched controls;Case:461 Alzheimer's disease patients										
116617	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15	APBB1	6372930	6374380	n	Papassotiropoulos A et al. 2000	11029529			intron	Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			KGB	322	Hs.372840			International journal of molecular medicine. 2000 Nov;6(5):587-9	No association between an intronic biallelic polymorphism of the FE65 gene and Alzheimer's disease.		602709	521	1	2000	We conclude that , whereas FE65 is implicated in AD pathology, the gene encoding FE65 does not appear to confer a substantial risk for AD.	Case:102 Alzheimer's disease patients;Control:351 non-demented controls										
116618		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15	APBB1	6372930	6374380		Lambert JC et al. 2000	11065130				Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			KGB	322	Hs.372840			Neuroscience letters. 2000 Oct;293(1):29-32	A FE65 polymorphism associated with risk of developing sporadic late-onset alzheimer's disease but not with Abeta loading in brains.		602709	522	1	2000	In conclusion, the FE65 gene may be a minor genetic determinant only for sporadic late-onset AD forms, although, we cannot conclude that this impact is mediated by a modulation of the APP process and/or Abeta peptide deposition.	Case:639 sporadic AD cases;Control:646:controls										
116619	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15	APBB1	6372930	6374380		Papassotiropoulos, A.  et al. 2000	11029529			intron	Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			CDC GDPinfo	322	Hs.372840			International journal of molecular medicine. 2000 Nov;6(5):587-9	No association between an intronic biallelic polymorphism of the FE65 gene and Alzheimer's disease.		602709	8648	2	2000	We conclude that , whereas FE65 is implicated in AD pathology, the gene encoding FE65 does not appear to confer a substantial risk for AD.	Case:102 Alzheimer's disease patients;Control:351 non-demented controls										
116614		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	12	12q23	APAF1	97563208	97653342		Fujimoto A 2004	15026369				Apoptotic peptidase activating factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013229.2			KGB	317	Hs.552567			Cancer research. 2004 Mar;64(6):2245-50	Allelic imbalance of 12q22-23 associated with APAF-1 locus correlates with poor disease outcome in cutaneous melanoma.		602233	518	1	2004												
116616	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease	11	11p15	APBB1	6372930	6374380		Hu Q et al. 1998	9799084			intron	Amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001164.2			KGB	322	Hs.372840			Human genetics. 1998 Sep;103(3):295-303	The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type.		602709	520	1	1998												
116611	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q12-q21.2	ANXA1	74956600	74975127		Lindgren, C. M.  et al. 2001	11574426				Annexin A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000700.1			CDC GDPinfo	301	Hs.494173			Diabetes. 2001 Oct;50(10):2402-5	Characterization of the annexin I gene and evaluation of its role in type 2 diabetes.		151690	15185	2	2001	We therefore concluded that the ANXA1 gene is unlikely to harbor variants that contribute to risk of type 2 diabetes.	Case type 2 diabetic patients;Control not specified in abstract										
116612	N	myocardial infarct; cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Myocardial Infarction|Genetic Predisposition to Disease	4	4q26-q28	ANXA5	122808597	122837626		Kaikkonen, K. S.  et al. 2005	16025836				Annexin A5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001154.2	Finnish	Finland	CDC GDPinfo	308	Hs.480653			Scandinavian journal of clinical and laboratory investigation. 2005 ;65(2):133-40	The -1C to T polymorphism in the annexin A5 gene is not associated with the risk of acute myocardial infarction or sudden cardiac death in middle-aged Finnish males.		131230	8647	2	2005	 The -1C to T polymorphism in the ANV gene is not associated with the risk of AMI or SCD in middle-aged Finnish males.											
116613		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	22	22q12	AP1B1	28053668	28114569		Saito, T.  et al. 2004	15063762				Adaptor-related protein complex 1, beta 1 subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001127.2		Japan	CDC GDPinfo	162	Hs.368794			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		600157	24037	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
116608		SARS	NORMALVARIATION	NV		15	15q25-q26	ANPEP	88129129	88159072		Luo Y 2003	14579541	T321M(962C > T), S651L(1952C > T)~~~ S752N(2255G > A) and G764R(2290G > A)~~~ T795T(2385C > T)~~~ IVS7 + 17G > A~~~ IVS14-16A > G~~~ IVS17 + 12C > G and IVS17 + 44C > T.			Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001150.1	Chinese		KGB	290	Hs.1239			Yi chuan xue bao. 2003 Jul;30(7):687-92	Genomic variations in the locus for aminopeptidase N:a putative cellular receptor for SARS-CoV spike glycoprotein		151530	516	1	2003												
116609	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q12-q21.2	ANXA1	74956600	74975127		Lindgren CM 2001	11574426				Annexin A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000700.1			Y Wang	301	Hs.494173			Diabetes. 2001 Oct;50(10):2402-5	Characterization of the annexin I gene and evaluation of its role in type 2 diabetes.		151690	517	1	2001	We therefore concluded that the ANXA1 gene is unlikely to harbor variants that contribute to risk of type 2 diabetes.	Case type 2 diabetic patients;Control not specified in abstract										
116610	Y	diabetes, type 2	METABOLIC	MET		9	9q12-q21.2	ANXA1	74956600	74975127		Dong, Y.  et al. 2004	15476183				Annexin A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000700.1	Chinese		CDC GDPinfo	301	Hs.494173			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):508-11	[Absence of evidence for the association of single nucleotide polymorphisms in Annexin A1 gene with type 2 diabetes in Chinese]		151690	8645	2	2004	 There is no association of these SNPs in ANXA1 gene with type 2 diabetes in Shanghai Han population.	Case:171 Chinese Hantype 2 diabetic patients:Shanghai;Control:189 normal controls										
116603	Y	spherocytosis	OTHER	OTH		8	8p11.1	ankyrin	41629900	41774297		del Giudice EM et al. 1996	8703812				ankyrin 1, erythrocytic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000037			KGB	286	Hs.491558			British journal of haematology. 1996 Jun;93(4):828-34	Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.			512	1	1996												
116605	Y	spherocytosis	OTHER	OTH		8	8p11.1	ankyrin	41629900	41774297		Morle L et al. 1997	9067504				ankyrin 1, erythrocytic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000037			KGB	286	Hs.491558			American journal of hematology. 1997 Mar;54(3):242-8	Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.			514	1	1997												
116606	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	9	9q22.32	ANP32B	99785309	99818045		Koyama T 2003	12730512				Acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006401.1			KGB	10541	Hs.494604			Rheumatology (Oxford, England). 2003 Aug;42(8):980-5	A novel polymorphism of the human APRIL gene is associated with systemic lupus erythematosus.			6667	1	2003	 The 67G allele of APRIL may be a contributing factor in the pathogenesis of SLE.											
116600	N	pregnancy loss, recurrent	OTHER	OTH	Abortion, Habitual	8	8p23.1	ANGPT2	6347600	6408172		Pietrowski, D.  et al. 2003	14556828				Angiopoietin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001147.1			CDC GDPinfo	285	Hs.583870			Fertility and sterility. 2003 Oct;80(4):1026-9	Angiopoietin-2 polymorphism in women with idiopathic recurrent miscarriage		601922	8643	2	2003	This is the first report on the ANGPT2 gene polymorphism in women with idiopathic recurrent miscarriage, demonstrating that the investigated polymorphism is not associated with idiopathic recurrent miscarriage in a white population.	Control:125 healthy postmenopausal Caucasian controls with at least two live births and no history of pregnancy:loss;Case:130 Caucasian women with a history of three or more consecutive pregnancy losses before 20 weeks':gestation										
116601	N	fetal loss, late	REPRODUCTION	REP	Fetal Death	8	8p23.1	ANGPT2	6347600	6408172		Huber, A.  et al. 2005	15694966				Angiopoietin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001147.1	Caucasian		CDC GDPinfo	285	Hs.583870			Journal of reproductive immunology. 2005 Feb;65(1):47-53	An Angiopoietin-2 gene polymorphism in unexplained intrauterine fetal death: a multi-center study.		601922	8644	2	2005	 We are the first to report on a common polymorphism of the ANGPT2 gene in patients with late IUFD. The investigated ANGPT2 poylmorphism does not seem to be a candidate gene for IUFD in Caucasian women.	Case:90 women with unexplained intrauterine fetal death										
116602	Y	uterine leiomyomas	OTHER	OTH	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	8	8p23.1	ANGPT2	6347600	6408172		Denschlag, D.  et al. 2005	16009172				Angiopoietin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001147.1			CDC GDPinfo	285	Hs.583870			Fertility and sterility. 2005 Jul;84(1):162-6	Polymorphism of the p53 tumor suppressor gene is associated with susceptibility to uterine leiomyoma.		601922	14452	2	2005	 Carriage of the p53 polymorphism at codon 72 predicts the susceptibility to leiomyoma in a Caucasian population and may contribute to the pathogenesis of uterine leiomyoma.											
116597		insulin	METABOLIC	MET		1	1p21	AMY1A	103999663	104008696		Baltova, S. D.   2005	16152770				Amylase, alpha 1A; salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004038.3			CDC GDPinfo	276	Hs.484588			Folia medica. 2005 ;47(1):37-41	On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).		104700	8642	2	2005	 The difference between the observed theoretically expected types of amylase is not significant so the population studied is in genetic balance regarding the enzyme system. This population does not differ significantly from other populations in gene frequency. A tendency of West-Eastern geographical distribution is evident. Allele frequencies of 1a and 2a tend to increase in that direction. Isoenzyme frequencies in the studied Bulgarian population do not differ significantly from those of the European populations.											
116598		insulin	METABOLIC	MET		1	1p21	AMY2B	103895085	103954615		Baltova, S. D.   2005	16152770				Amylase, alpha 2B; pancreatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020978			CDC GDPinfo	280	Hs.558299			Folia medica. 2005 ;47(1):37-41	On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).		104660	25839	2	2005	 The difference between the observed theoretically expected types of amylase is not significant so the population studied is in genetic balance regarding the enzyme system. This population does not differ significantly from other populations in gene frequency. A tendency of West-Eastern geographical distribution is evident. Allele frequencies of 1a and 2a tend to increase in that direction. Isoenzyme frequencies in the studied Bulgarian population do not differ significantly from those of the European populations.											
116599	N	idiopathic recurrent miscarriage	OTHER	OTH	Abortion, Habitual	8	8p23.1	ANGPT2	6347600	6408172		Pietrowski D 2003	14556828				Angiopoietin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001147.1			KGB	285	Hs.583870			Fertility and sterility. 2003 Oct;80(4):1026-9	Angiopoietin-2 polymorphism in women with idiopathic recurrent miscarriage.		601922	511	1	2003	This is the first report on the ANGPT2 gene polymorphism in women with idiopathic recurrent miscarriage, demonstrating that the investigated polymorphism is not associated with idiopathic recurrent miscarriage in a white population.	Control:125 healthy postmenopausal Caucasian controls with at least two live births and no history of pregnancy:loss;Case:130 Caucasian women with a history of three or more consecutive pregnancy losses before 20 weeks':gestation										
116594		endurance performance	NORMALVARIATION	NV		1	1p13	AMPD1	115017244	115039699		Rubio, J. C.  et al. 2005	15677729				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1	Caucasian		CDC GDPinfo	270	Hs.89570			Journal of applied physiology (Bethesda, Md :  1985). 2005 Jun;98(6):2108-12	Frequency of the C34T mutation of the AMPD1 gene in World-class endurance athletes -does this mutation impair performance?		102770	15179	2	2005	In conclusion, although the frequency distribution of the mutant T allele of the AMPD1 genotype is lower in Caucasian elite endurance athletes than in controls, the C34T mutation does not significantly impair endurance performance once the elite level status has been reached in sports.	Control:100:Caucasian (Spanish) healthy (asymptomatic):non-athletes;Case:104 Caucasian (Spanish) male endurance athletes (cyclists and runners)										
116595	Y	insulin	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	1	1p13	AMPD1	115017244	115039699		Goodarzi, M. O.  et al. 2005	15793265				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Diabetes. 2005 Apr;54(4):1222-7	Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait.		102770	15180	2	2005	We postulated that the processes of insulin action and insulin clearance in skeletal muscle are highly regulated and that AMPD1 function may play an important role in these phenomena.	Cohort 403 Mexican Americans 										
116596	Y	cardiac function	CARDIOVASCULAR	CARD	Heart Failure|Ischemia	1	1p13	AMPD1	115017244	115039699		Yuen, A. H.  et al. 2005	16021915				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Nucleosides, nucleotides & nucleic acids. 2005 ;24(4):275-7	Association of improved cardiac function in donors with C34T mutation of the AMP deaminase 1 gene.		102770	15181	2	2005												
116591	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1p13	AMPD1	115017244	115039699		Anderson, J. L.  et al. 2000	11028479				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Journal of the American College of Cardiology. 2000 Oct;36(4):1248-52	A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease.		102770	15176	2	2000	 Carriage of a common variant of the AMPD1 gene was associated with improved CV survival in patients with angiographically documented CAD. The dysfunctional AMPD1(-) allele may lead to increased cardiac adenosine and increased cardioprotection during ischemic events. Adenosine monophosphate deaminase-1 genotyping should be further explored in CAD for prognostic, mechanistic and therapeutic insights.	Cohort 367 patients undergoing coronary angiography 										
116592	Y	heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low|Chronic Disease	1	1p13	AMPD1	115017244	115039699		Yacoub, M. H.  et al. 2004	15239633				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Transplantation. 2004 May;77(10):1621-3	C34T AMP deaminase 1 gene mutation protects cardiac function in donors.		102770	15177	2	2004	The presence of the C34T mutation in AMPD1 gene appears to be protective against acute heart failure in cardiac donors.	Control:207 healthy controls;Case:22/10/37 donor hearts used for transplantation (n=22), unused donor hearts with acute heart failure (n=10) and patients with chronic heart failure (n=37)										
116593	Y	left ventricular dysfunction	CARDIOVASCULAR	CARD	Myocardial Ischemia|Ventricular Dysfunction, Left|Genetic Predisposition to Disease	1	1p13	AMPD1	115017244	115039699		Yazaki, Y.  et al. 2004	15309698				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Journal of cardiac failure. 2004 Aug;10(4):316-20	A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction.		102770	15178	2	2004	 The AMPD1 C34T polymorphism influences transplant-free cardiovascular survival in the setting of ischemic left ventricular dysfunction.	Cohort 390 patients with left ventricular ejection fraction <40% 										
116588	Y	congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	1	1p13	AMPD1	115017244	115039699		Gastmann, A.  et al. 2004	15135700				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1		Germany	CDC GDPinfo	270	Hs.89570			The American journal of cardiology. 2004 May;93(10):1260-4	Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome).		102770	8639	2	2004	The mutant AMPD1 allele, in the context of CHF, is associated with a prognostic benefit. The underlying mechanism of TNF-alpha is unrelated.	Cohort 90/53/20/17 patients with CHF (n = 90; idiopathic dilated cardiomyopathy n = 53; coronary artery disease n = 20; other n = 17) 										
116589	N	myocardial infarct; cardiac death; heart failure; angina; coronary revascularization	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1p13	AMPD1	115017244	115039699		Andreassi, M. G.  et al. 2005	15882662				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			International journal of cardiology. 2005 May;101(2):191-5	AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization.		102770	8640	2	2005	 Our results indicate that AMPD1 (-) allele is not associated with a more favorable outcome after coronary revascularization. Alternative cardioprotective pathways of the AMPD1 gene-involving an enhanced chronic long-term production of adenosine-might be responsible for survival.	Cohort 161 patients receiving coronary revascularization (70 percutaneous transluminal coronary angioplasty and 91 coronary artery bypass graft) 										
116590		heart failure	CARDIOVASCULAR	CARD	Heart Failure|Myocardial Ischemia	1	1p13	AMPD1	115017244	115039699			16360962				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Journal of cardiac failure. 2005 Dec;11(9):677-83	The Role of a Common Adenosine Monophosphate Deaminase (AMPD)-1 Polymorphism in Outcomes of Ischemic and Nonischemic Heart Failure		102770	8641	2	2005	 Results of this study failed to confirm a reported survival benefit among HF patients carrying the AMPD1 T-allele. However, further studies in larger, more homogeneous populations should explore the possibility of a modest survival advantage for patients with ischemic HF.											
116585		polycystic ovary syndrome; premature ovarian failure	METABOLIC	MET	Polycystic Ovary Syndrome|Ovarian Failure, Premature	12	12q13	AMHR2	52103907	52111579		Wang, H. Q.  et al. 2002	12477536				Anti-Mullerian hormone receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020547.1	Japanese	Japan	CDC GDPinfo	269	Hs.437877			Fertility and sterility. 2002 Dec;78(6):1329-30	Mutational analysis of the m????llerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure.		600956	20432	2	2002	Although the number of patients evaluated was small and we cannot exclude the presence of mutation in other regions, for example, the promoter region of the AMH or AMHR2 genes are rare in Japanese women with idiopathic POF and PCOS.	Control:12/8 normally menstruating fertile unrelated women (n=12) and fertile men (n=8);Case:59 unrelated women with a history of infertility:Japan										
116586		cardiorespiratory responses to exercise	OTHER	OTH		1	1p13	AMPD1	115017244	115039699		Rico-Sanz J 2003	12783984				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			KGB	270	Hs.89570			Physiological genomics. 2003 Jul;14(2):161-6	Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study.		102770	510	1	2003	The results indicate that subjects with the TT genotype at the C34T AMPD1 gene have diminished exercise capacity and cardiorespiratory responses to exercise in the sedentary state. Furthermore, the training response of ventilatory phenotypes during maximal exercise is more limited in TT.	Cohort 779 individuals tested ruing cycling exercise at absolute and relative power outputs progressing to exhaustion before and after endurance training for 20 weeks in the HERITAGE Family Study cohort										
116587		cardiovascular disease	OTHER	OTH		1	1p13	AMPD1	115017244	115039699		Rico-Sanz, J.  et al. 2003	12783984				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDPinfo	270	Hs.89570			Physiological genomics. 2003 Jul;14(2):161-6	Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study.		102770	8638	2	2003	The results indicate that subjects with the TT genotype at the C34T AMPD1 gene have diminished exercise capacity and cardiorespiratory responses to exercise in the sedentary state. Furthermore, the training response of ventilatory phenotypes during maximal exercise is more limited in TT.	Cohort 779 individuals tested ruing cycling exercise at absolute and relative power outputs progressing to exhaustion before and after endurance training for 20 weeks in the HERITAGE Family Study cohort 										
116582		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	2	2q33.1	ALS2	202273521	202353983		Nagano, I.  et al. 2003	12866199				Amyotrophic lateral sclerosis 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020919.2	Japanese	Japan	CDC GDPinfo	57679	Hs.471096			Neurological research. 2003 Jul;25(5):505-9	Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.		606352	8637	2	2003	These results suggest that deletion mutations in ALS2 gene detected in ALS2 patients seem to be uncommon in Japanese AR-ALS, and that SNPs in uncoding regions might possibly be relevant to predisposition to ALS.	Case Tunisian amyotrophic lateral sclerosis patients;Control healthy controls										
116583	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	5	5p13.2-q11.1	AMACR	34023656	34043963		Zheng, S. L.  et al. 2002	12438241				Alpha-methylacyl-CoA racemase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014324.4			CDC GDPinfo	23600	Hs.508343			Cancer research. 2002 Nov;62(22):6485-8	Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk		604489	15174	2	2002	These results suggest that sequence variants in AMACR may be associated with CaP risk.	Case:159/245 hereditary (n=159) and sporadic (n=245) prostate cancer probands;Control:211 unaffected controls										
116584		polycystic ovary syndrome; premature ovarian failure	METABOLIC	MET	Polycystic Ovary Syndrome|Ovarian Failure, Premature	19	19p13.3	AMH	2200121	2203071		Wang, H. Q.  et al. 2002	12477536				Anti-Mullerian hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000479.2	Japanese	Japan	CDC GDPinfo	268	Hs.112432			Fertility and sterility. 2002 Dec;78(6):1329-30	Mutational analysis of the m????llerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure.		600957	15175	2	2002	Although the number of patients evaluated was small and we cannot exclude the presence of mutation in other regions, for example, the promoter region of the AMH or AMHR2 genes are rare in Japanese women with idiopathic POF and PCOS.	Control:12/8 normally menstruating fertile unrelated women (n=12) and fertile men (n=8);Case:59 unrelated women with a history of infertility:Japan										
116579	Y	birth weight	REPRODUCTION	REP	Fetal Death|Birth Weight	2	2q37	ALPP	232951591	232955843		Magrini, A.  et al. 2003	14595869				Alkaline phosphatase, placental (Regan isozyme)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001632.3			CDC GDPinfo	250	Hs.284255			American journal of human biology. 2003 Nov-Dec;15(6):781-5	Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase.		171800	8636	2	2003	This suggests that the effects of smoke on birthweight are also dependent on PLAP and maternal age.	Cohort 214 Caucasian consecutive newborn infants delivered in the Maternity Department of the University of Rome La Sapienza Hospital 	smoking (tobacco), maternal									
116580	N	sporadic amyotrophic lateral sclerosis	OTHER	OTH	Amyotrophic Lateral Sclerosis	2	2q33.1	ALS2	202273521	202353983	n	Al-Chalabi A 2003	12768434				Amyotrophic lateral sclerosis 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020919.2			KGB	57679	Hs.471096			Neurogenetics. 2003 Aug;4(4):221-2	Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.		606352	6794	1	2003												
116581	Y	Infantile-onset ascending hereditary spastic paralysis	OTHER	OTH	Spastic Paraplegia, Hereditary|Paralysis	2	2q33.1	ALS2	202273521	202353983		Eymard-Pierre E et al. 2002	12145748				amyotrophic lateral sclerosis 2 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020919			KGB	57679	Hs.471096			American journal of human genetics. 2002 Sep;71(3)	Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.		205100	6795	1	2002												
116575		infantile hypophosphatasia	OTHER	OTH	Respiratory Insufficiency|Hypophosphatasia|Hypercalcemia	1	1p36.1-p34	ALPL	21708444	21777492		Mochizuki H et al. 2000	10834525				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2			KGB	249	Hs.75431			European journal of pediatrics. 2000 May;159(5):375-9	Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.		171760	509	1	2000	 The detection of tissue-nonspecific alkaline phosphatase gene mutations and expression studies to determine the enzymatic activity of mutant gene products was useful for assessing the clinical course of this patient with hypophosphatasia.											
116576	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	1	1p36.1-p34	ALPL	21708444	21777492		Goseki-Sone, M.  et al. 2005	15824850				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2			CDC GDPinfo	249	Hs.75431			Journal of bone and mineral research. 2005 May;20(5):773-82	Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.		171760	8635	2	2005	 These results suggest that variation in TNSALP may be an important determinant of age-related bone loss in humans and that the phosphate metabolism pathway may provide a novel target for the prevention and treatment of osteoporosis.	Cohort 501 Japanese postmenopausal women 										
116577		hypophosphatasia	METABOLIC	MET	Hypophosphatasia	1	1p36.1-p34	ALPL	21708444	21777492		Michigami, T.  et al. 2005	15660230				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2	Japanese	Japan	CDC GDPinfo	249	Hs.75431			European journal of pediatrics. 2005 May;164(5):277-82	Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia		171760	15173	2	2005	 In Japanese patients, the common mutations F310L and T1559del are associated with the relatively mild and lethal forms of hypophosphatasia, respectively. Our results may enhance the importance of genotyping patients with hypophosphatasia to predict their prognosis.	Cohort Japanese patients with hypophosphatasia 										
116572	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556		Sayers, I.  et al. 2003	12911785				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	Caucasian		CDC GDPinfo	241	Hs.507658			Clinical and experimental allergy. 2003 Aug;33(8):1103-10	Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population		603700	20429	2	2003	 Taken together, these data do not support a significant role for these polymorphisms in genetic susceptibility to asthma in the Caucasian population.	Control:184 non-asthmatic control subjects;Case:341 Caucasian families (containing two asthmatic:siblings)										
116573	N	asthma	IMMUNE	IMM	Asthma	13	13q12	ALOX5AP	30207668	30236556		Choi, J. H.  et al. 2004	14749922				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	Korean	Korea	CDC GDPinfo	241	Hs.507658			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with ahaplotype of 5-lipoxygenase.		603700	20430	2	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
116574		asthma	IMMUNE	IMM	Asthma	13	13q12	ALOX5AP	30207668	30236556		Dewar, J. C.  et al. 2003	12724032				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2		Great Britain	CDC GDPinfo	241	Hs.507658			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		603700	25838	2	2003	Review article											
116569		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556			16282974				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDPinfo	241	Hs.507658			Nature genetics. 2006 Jan;38(1):68-74	A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.		603700	18107	2	2005												
116570	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemia	13	13q12	ALOX5AP	30207668	30236556		Lohmussaar, E.  et al. 2005	15731479				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2		Europe, Eastern|Iceland	CDC GDPinfo	241	Hs.507658			Stroke; a journal of cerebral circulation. 2005 Apr;36(4):731-6	ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.		603700	18867	2	2005	 The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.	Case:639 consecutive stroke patients central Europe;Control:736 unrelated population-based controls matched for age and sex										
116571		asthma	IMMUNE	IMM	Asthma	13	13q12	ALOX5AP	30207668	30236556		Nanavaty, U.  et al. 2001	11202474				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDPinfo	241	Hs.507658			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		603700	20428	2	2001	Review article											
116566	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	13	13q12	ALOX5AP	30207668	30236556		Helgadottir, A.  et al. 2005	15640973				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2		Scotland|Iceland	CDC GDPinfo	241	Hs.507658			American journal of human genetics. 2005 Mar;76(3):505-9	Association between the Gene Encoding 5-Lipoxygenase-Activating Protein and Stroke Replicated in a Scottish Population		603700	15171	2	2005	We did not detect association between HapB and ischemic stroke in the Scottish cohort. However, we observed that HapB was overrepresented in male patients. This replication of haplotype association with stroke in a population outside Iceland further supports a role for ALOX5AP in cardiovascular diseases.	Case:450 patients with ischemic stroke:Aberdeenshire, Scotland;Control:710:controls										
116567	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556		Kajimoto, K.  et al. 2005	16127181				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	Japanese	Japan	CDC GDPinfo	241	Hs.507658			Circulation journal. 2005 Sep;69(9):1029-34	Validation of the association between the gene encoding 5-lipoxygenase-activating protein and myocardial infarction in a Japanese population.		603700	15172	2	2005	 The hypothesis that ALOX5AP contributes to susceptibility for MI was validated in a Japanese population.											
116568		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	13	13q12	ALOX5AP	30207668	30236556		Hakonarson, H.  et al. 2005	15886380				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDPinfo	241	Hs.507658			JAMA. 2005 May;293(18):2245-56	Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.		603700	18106	2	2005	 In patients with specific at-risk variants of 2 genes in the leukotriene pathway, DG-031 led to significant and dose-dependent suppression of biomarkers that are associated with increased risk of MI events.	Cohort 268 myocardial infarc patients Iceland 	5-lipoxygenase-activating protein inhibitor									
116563	N	asthma	IMMUNE	IMM	Asthma	13	13q12	ALOX5AP	30207668	30236556		Kedda, M. A.  et al. 2005	15784112				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	Australian	Australia	CDC GDPinfo	241	Hs.507658			Clinical and experimental allergy. 2005 Mar;35(3):332-8	Polymorphisms in the 5-lipoxygenase activating protein (ALOX5AP) gene are not associated with asthma in an Australian population.		603700	8633	2	2005	 These findings in a large, well characterized asthma population, reveal that, while FLAP is an important enzyme in cys-LTs biosynthesis, polymorphisms in the ALOX5AP gene are not likely to be functionally associated with the asthma phenotype.	Case:274/231/79 mild asthmatics (n=274), moderate asthmatics (n=231) and severe asthmatics (n=79):Australia;Control:457 non-asthmatic controls										
116564	Y	asthma	IMMUNE	IMM	Asthma|Drug Hypersensitivity	13	13q12	ALOX5AP	30207668	30236556		Kim, S. H.  et al. 2005	15876305			promoter	Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDPinfo	241	Hs.507658			Allergy. 2005 Jun;60(6):760-5	Polymorphism of tandem repeat in promoter of 5-lipoxygenase in ASA-intolerant asthma: a positiveassociation with airway hyperresponsiveness		603700	8634	2	2005	 Although the alleles of the ALOX5 and ALOX5AP promoter cannot be considered as a prominent risk factor in the development of AIA, the genetic variant of tandem repeat (GGGCGG; Sp1-binding motif) in ALOX5 promoter is associated with the severity of airway hyperresponsiveness in AIA patients.	Cohort Korean acetylsalicyclic acid (ASA)-intolerant asthma patients 										
116565		intima-media thickness; atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arteriosclerosis|Inflammation	13	13q12	ALOX5AP	30207668	30236556		Dwyer, J. H.  et al. 2004	14702425			promoter	Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDPinfo	241	Hs.507658			The New England journal of medicine. 2004 Jan;350(1):29-37	Arachidonate 5-Lipoxygenase Promoter Genotype, Dietary Arachidonic Acid, and Atherosclerosis		603700	15170	2	2004	 Variant 5-lipoxygenase genotypes identify a subpopulation with increased atherosclerosis. The observed diet-gene interactions further suggest that dietary n-6 polyunsaturated fatty acids promote, whereas marine n-3 fatty acids inhibit, leukotriene-mediated inflammation that leads to atherosclerosis in this subpopulation.	Cohort 470 healthy, middle-aged women and men from the Los Angeles Atherosclerosis Study 										
116560		asthma	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Dewar, J. C.  et al. 2003	12724032				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2		Great Britain	CDC GDPinfo	240	Hs.89499			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		152390	24035	2	2003	Review article											
116561	Y	myocardial infarction and stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556	2e-06	Helgadottir A 2004	14770184	HapA			Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	Icelandic and UK		KGB	241	Hs.507658			Nature genetics. 2004 Mar;36(3):233-9	The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke		603700	507	1	2004	We conclude that  variants of ALOX5AP are involved in the pathogenesis of both myocardial infarction and stroke by increasing leukotriene production and inflammation in the arterial wall.	Case:802; Control:837										
116562	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556		Sayers I 2003	12911785			5'promoter	Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	caucasian		KGB	241	Hs.507658			Clinical and experimental allergy. 2003 Aug;33(8):1103-10	Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population.		603700	508	1	2003	 Taken together, these data do not support a significant role for these polymorphisms in genetic susceptibility to asthma in the Caucasian population.	Control:184 non-asthmatic control subjects;Case:341 Caucasian families (containing two asthmatic:siblings)										
116557		asthma	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569			16364163			promoter	Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDPinfo	240	Hs.89499			Allergy. 2006 Jan;61(1):97-103	ALOX5 promoter genotype, asthma severity and LTC production by eosinophils		152390	15169	2	2006	 Our results suggest that children who express the asthma phenotype despite having a genetic variant that impairs their ability to express ALOX5 have more severe disease and thus are more likely to have asthma symptoms.											
116558		asthma	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Lima, J. J.  et al. 2005	16293801				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDPinfo	240	Hs.89499			American journal of respiratory and critical care medicine. 2006 Feb;173(4):379-85	Influence of Leukotriene Pathway Polymorphisms on Response to Montelukast in Asthma.		152390	20426	2	2005												
116559	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569		Goodman, J. E.  et al. 2004	15308583				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2	Caucasian		CDC GDPinfo	240	Hs.89499			Carcinogenesis. 2004 Dec;25(12):2467-72	Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.		152390	20427	2	2004	Statistically significant associations with colon cancer were not observed for the other polymorphisms investigated. We have shown for the first time that a haplotype containing ALOX5 G-1752A and G-1699A in a negative regulatory region of the promoter may influence colon cancer risk in Caucasians.	Case:293 African Americans and Caucasianscolon cancer cases;Control:293/304 hospital-based (n=229) and population-based (n=304):controls										
116553	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569		Sayers, I.  et al. 2003	12911785			promoter	Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2	Caucasian		CDC GDPinfo	240	Hs.89499			Clinical and experimental allergy. 2003 Aug;33(8):1103-10	Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population		152390	8628	2	2003	 Taken together, these data do not support a significant role for these polymorphisms in genetic susceptibility to asthma in the Caucasian population.	Control:184 non-asthmatic control subjects;Case:341 Caucasian families (containing two asthmatic:siblings)										
116554	Y	asthma	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Choi, J. H.  et al. 2004	14749922				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2	Korean	Korea	CDC GDPinfo	240	Hs.89499			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with ahaplotype of 5-lipoxygenase.		152390	8629	2	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
116555		asthma, aspirin-induced; urticaria, aspirin-intolerant	IMMUNE	IMM	Asthma|Urticaria	10	10q11.2	ALOX5	45189634	45261569			16361798				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDPinfo	240	Hs.89499			Journal of Korean medical science. 2005 Dec;20(6):926-31	Leukotriene-related Gene Polymorphisms in Patients with Aspirin-intolerant Urticaria and Aspirin-intolerant Asthma: Differing Contributionsof ALOX5 Polymorphism in Korean Population		152390	8632	2	2005												
116550	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569		Sayers I 2003	12911785			5'promoter	Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2	caucasian		KGB	240	Hs.89499			Clinical and experimental allergy. 2003 Aug;33(8):1103-10	Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population.		152390	505	1	2003	 Taken together, these data do not support a significant role for these polymorphisms in genetic susceptibility to asthma in the Caucasian population.	Control:184 non-asthmatic control subjects;Case:341 Caucasian families (containing two asthmatic:siblings)										
116551		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Inflammation	10	10q11.2	ALOX5	45189634	45261569		Dwyer JH 2004	14702425			5' promoter	Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			KGB	240	Hs.89499			The New England journal of medicine. 2004 Jan;350(1):29-37	Arachidonate 5-lipoxygenase promoter genotype, dietary arachidonic acid, and atherosclerosis.		152390	506	1	2004	 Variant 5-lipoxygenase genotypes identify a subpopulation with increased atherosclerosis. The observed diet-gene interactions further suggest that dietary n-6 polyunsaturated fatty acids promote, whereas marine n-3 fatty acids inhibit, leukotriene-mediated inflammation that leads to atherosclerosis in this subpopulation.											
116552	N	asthma	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Fowler, S. J.  et al. 2002	12107604				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDPinfo	240	Hs.89499			European journal of clinical pharmacology. 2002 Jun;58(3):187-90	5-Lipoxygenase polymorphism and in-vivo response to leukotriene receptor antagonists.		152390	8627	2	2002	 In our population, screening for this polymorphism as an aid to guiding treatment is probably not worthwhile. In addition, we found no difference between homozygous wild types and heterozygotes in terms of bronchodilator response or bronchial hyperresponsiveness with leukotriene receptor antagonists.	Cohort 52 asthmatics from four placebo-controlled studies 	leukotriene receptor antagonist									
116546	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	17	17p13.1	ALOX12	6840127	6854776		Goodman, J. E.  et al. 2004	15308583				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1	Caucasian		CDC GDPinfo	239	Hs.422967			Carcinogenesis. 2004 Dec;25(12):2467-72	Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.		152391	8630	2	2004	Statistically significant associations with colon cancer were not observed for the other polymorphisms investigated. We have shown for the first time that a haplotype containing ALOX5 G-1752A and G-1699A in a negative regulatory region of the promoter may influence colon cancer risk in Caucasians.	Case:293 African Americans and Caucasianscolon cancer cases;Control:293/304 hospital-based (n=229) and population-based (n=304):controls										
116547	Y	bone density	METABOLIC	MET		17	17p13.3	ALOX15	4480962	4491709		Urano, T.  et al. 2005	15838625				Arachidonate 15-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001140.3			CDC GDPinfo	246	Hs.73809			Journal of bone and mineral metabolism. 2005 ;23(3):226-30	Association of a single nucleotide polymorphism in the lipoxygenase ALOX15 5'-flanking region (-5229G/A) with bone mineral density.		152392	8626	2	2005	These findings suggest that the ALOX15 gene is one of the genetic determinants of BMD in postmenopausal women. Accordingly, this polymorphism could be useful as a genetic marker for predicting the risk of osteoporosis.	Cohort 319 postmenopausal Japanese women (66.7 +/- 8.9 years, mean +/- SD) 										
116549		Asthma drug response	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Drazen JM 1999	10369259				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			KCB	240	Hs.89499			Nature genetics. 1999 Jun;22(2):168-70			152390	504	1	1999												
116543	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9q21.3-q22.2	ALDOB	103223478	103237926		Daimon M 2003	12646233				Aldolase B, fructose-bisphosphate	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000035.2	Japanese	Japan	Y Wang	229	Hs.530274			Biochemical and biophysical research communications. 2003 Mar;302(4):751-8	Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.		229600	485	1	2003												
116544		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	9	9q21.3-q22.2	ALDOB	103223478	103237926		Saito, T.  et al. 2004	15063762				Aldolase B, fructose-bisphosphate	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000035.2		Japan	CDC GDPinfo	229	Hs.530274			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		229600	20425	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
116545	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17p13.1	ALOX12	6840127	6854776		Fridman, C.  et al. 2003	12664313				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDPinfo	239	Hs.422967			European archives of psychiatry and clinical neuroscience. 2003 Feb;253(1):40-3	Association of a new polymorphism in ALOX12 gene with bipolar disorder.		152391	8625	2	2003	An increased presence of allele A among patients was found, suggesting an association of this polymorphism with the BPD in this Brazilian sample.	Control:160 control individuals;Case:182 patients with bipolar disorder										
116540	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	6	6p22.2-p22.3	ALDH5A1	24603175	24645414		Zhang, B.  et al. 2005	15642443				Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170740.1			CDC GDPinfo	7915	Hs.371723			European psychiatry. 2005 Jan;20(1):45-9	An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.		610045	24034	2	2005	Therefore, we conclude the polymorphisms studied in the five genes do not play major roles in pathogenesis of paranoid schizophrenia in the population investigated.	Control:108 matched controls;Case:80 paranoid schizophrenics northern China										
116541		anemia	HEMATOLOGICAL	HEM	Rhabdomyolysis|Anemia, Hemolytic, Congenital	16	16q22-q24	ALDOA	29971972	29989236		Yao DC 2004	14615364	Arg303X/Cys338Tyr			Aldolase A, fructose-bisphosphate	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000034.2			KGB	226	Hs.513490			Blood. 2004 Mar;103(6):2401-3	Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr).		103850	483	1	2004												
116542	Y	hereditary fructose intolerance.	OTHER	OTH	Fructose Intolerance	9	9q21.3-q22.2	ALDOB	103223478	103237926		Malay AD et al. 2002	12464284				Aldolase B, fructose-bisphosphate	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000035.2			KGB	229	Hs.530274			Archives of biochemistry and biophysics. 2002 Dec;408(2):295-304	The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance.		229600	484	1	2002												
116537	Y	Sjogren-Larsson syndrome	METABOLIC	MET	Sjogren-Larsson Syndrome	17	17p11.2	ALDH3A2	19492655	19521500		Tsukamoto N et al. 1997	9250352				Aldehyde dehydrogenase 3 family, member A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001031806.1			KGB	224	Hs.499886			Annals of human genetics. 1997 May;61(Pt 3):235-42	Mutations associated with Sjogren-Larsson syndrome.		609523	482	1	1997												
116538		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q13	ALDH3B1	67532623	67553319		Sun, X.  et al. 2005	16092759				Aldehyde dehydrogenase 3 family, member B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000694.2			CDC GDPinfo	221	Hs.523841			Science in China Series C, Life sciences. 2005 Jun;48(3):263-9	Multi-locus association study of schizophrenia susceptibility genes with a posterior probability method.		600466	15167	2	2005				COMT		ALDH3B1				Y		schizophrenia
116539	Y	memory disturbance	NEUROLOGICAL	NEUR		6	6p22.2-p22.3	ALDH5A1	24603175	24645414		Plomin, R.  et al. 2004	14981524				Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170740.1			CDC GDPinfo	7915	Hs.371723			Molecular psychiatry. 2004 Jun;9(6):582-6	A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.		610045	8624	2	2004	These data suggest that higher SSADH activity is associated with higher intelligence across the general population. The effect is small, with each allele having an effect size translating to about 1.5 IQ points.	Case:197 high-IQ cases;Control:201 average-IQ controls										
116534		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Kajander, O. A.  et al. 2001	11696658				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		100650	26786	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
116535	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Paranoid	17	17p11.2	ALDH3A1	19581889	19592200		Xu, Q.  et al. 2004	14745454				Aldehyde dehydrogenase 3 family, memberA1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000691.3			CDC GDPinfo	218	Hs.531682			Molecular psychiatry. 2004 May;9(5):510-21	Association study of an SNP combination pattern in the dopaminergic pathway in paranoid schizophrenia:a novel strategy for complex disorders.		100660	15166	2	2004	The present findings suggest that the COMT and ALDH3 combination may be the most common type involved in predisposing to schizophrenia. Since the combination blocks the whole pathways for the breakdown of DA and noradrenaline, it is very likely to play a central role in developing paranoid schizophrenia.	Control:108 normal controls with detailed clinical and genetic:information;Case:83 paranoid schizophrenics		COMT		ALDH3				Y		paranoid schizophrenia
116536		Sjogren-Larsson syndrome	METABOLIC	MET	Sjogren-Larsson Syndrome	17	17p11.2	ALDH3A2	19492655	19521500		Pigg M et al. 1994	7894487				Aldehyde dehydrogenase 3 family, member A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001031806.1			KGB	224	Hs.499886			Nature genetics. 1994 Dec;8(4):361-4	The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.		609523	481	1	1994												
116531		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Konishi, T.  et al. 2004	15318112				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Mexican	Los Angeles	CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		100650	24030	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
116532		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	12	12q24.2	ALDH2	110688728	110732167		Kim, M. S.  et al. 2004	15220553				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		100650	24031	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
116533		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Dick, D. M.  et al. 2003	12766633				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		100650	24032	2	2003	Review article											
116529	Y	cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Lee, H. C.  et al. 2001	11748356				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Korean	Korea	CDC GDPinfo	217	Hs.632733			Journal of Korean medical science. 2001 Dec;16(6):745-50	Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population.		100650	24028	2	2001	The prevalences of heterozygous ALDH2*1/*2 plus homozygous ALDH2*2/*2 in patients with alcoholic cirrhosis (7.1%) and alcoholics without evidence of liver disease (3.8%) were significantly lower than that in nondrinkers (45.3%). The c2 allele frequencies of the CYP2E1 in alcoholic cirrhosis, alcoholics without evidence of liver disease, and nondrinkers were 0.21, 0.20, and 0.20, respectively. Allele frequencies of ADH2*2 in the three groups were 0.78, 0.74, and 0.77 and those of ADH3*1 were 0.94, 0.98, and 0.95. Therefore, we confirmed the observation that the ALDH2*2 gene protects against the development of alcoholism. However, the development of cirrhosis in Korean alcoholic patients was not associated with polymorphisms of ethanol-metabolizing enzymes.	Control:52 alcoholics without liver disease;Case:56 male alcoholic cirrhosis patients:Korea;Control:64 non drinkers										
116530		cirrhosis; pancreatitis; esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Chao YC  et al. 2000	11051375				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Chinese	China	CDC GDPinfo	217	Hs.632733			The American journal of gastroenterology. 2000 Oct;95(10):2958-64	Chinese alcoholic patients with esophageal cancer are genetically different from alcoholics with acute pancreatitis and liver cirrhosis.		100650	24029	2	2000	 The allele frequency of ADH2*1 and ALDH2*1 are different among subpopulations of alcoholics, suggesting that alcoholic patients with different specific types of organ damage are genetically different. The Chinese alcoholic patients with the ADH2*1 and ALDH2*2 allele are more susceptible to esophageal Ca.	Control:241 nonalcoholic patients;Case:281 alcoholics (59 with esophageal CA, 87 with acute pancreatitis, 116 with liver cirrhosis, 19 with cirrhosis and pancreatitis										
116526		alcohol abuse	CHEMDEPENDENCY	CHEM		12	12q24.2	ALDH2	110688728	110732167		Peng, G. S.  et al. 2002	12517056				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Taiwanese		CDC GDPinfo	217	Hs.632733			Journal of the Formosan Medical Association. 2002 Nov;101(11):769-74	Alcohol sensitivity in Taiwanese men with different alcohol and aldehyde dehydrogenase genotypes		100650	24025	2	2002	 Individuals heterozygous for ALDH2*2 exhibit strong alcohol hypersensitivity caused by persistent accumulation of large amounts of acetaldehyde, but homozygosity for ADH2*2 is not dependent upon this pathway against alcoholism.	Cohort 24 Taiwanese men, matched by age, body mass index, nutritional state, and homozygosity at ADH3, were recruited from a population base of 304 men 										
116527		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Mulligan, C. J.  et al. 2003	12884000				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Indian		CDC GDPinfo	217	Hs.632733			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		100650	24026	2	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe 										
116528		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Sepehr, A.  et al. 2004	15327835				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	217	Hs.632733			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		100650	24027	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
116523		liver disease	METABOLIC	MET	Liver Diseases|Fatty Liver|Metabolic Syndrome X	12	12q24.2	ALDH2	110688728	110732167		Murata, C.  et al. 2003	14506613				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Metabolism:  clinical and experimental. 2003 Sep;52(9):1096-101	Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association withelevated liver enzymes and metabolic syndrome.		100650	20424	2	2003	In conclusion, evaluating the genotype of ALDH2 and beta3-AR may assist in predicting and preventing the development of fatty liver which may be related to multiple risk factor syndrome.	Cohort 148 male workers 35 years of age 										
116524		Parkinson's disease	NEUROLOGICAL	NEUR		12	12q24.2	ALDH2	110688728	110732167		Nishio, K.  et al. 2004	15279067				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		100650	24023	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
116525		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Chai, Y. G.  et al. 2005	15863807				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Korea	CDC GDPinfo	217	Hs.632733			The American journal of psychiatry. 2005 May;162(5):1003-5	Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism.		100650	24024	2	2005	 The genetic characteristics of alcohol dehydrogenases in men with type I alcoholism were similar to those of healthy men, and the genetic characteristics of aldehyde dehydrogenase in men with type I alcoholism were similar to those of men with type II alcoholism. These findings suggest that the genetic characteristics of alcohol metabolism in type I alcoholism fall between nonalcoholism and type II alcoholism.	Control:38 nonalcoholic healthy men;Case:72 alcoholic men										
116520		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Cell Transformation, Neoplastic	12	12q24.2	ALDH2	110688728	110732167		Muto, M.  et al. 2002	12376487				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Carcinogenesis. 2002 Oct;23(10):1759-65	Association between aldehyde dehydrogenase gene polymorphisms and the phenomenon of field cancerization in patients with head and neck cancer		100650	20421	2	2002	These results reveal strong evidence for a gene-environmental interaction between the ALDH2-2 allele and alcohol consumption, for the risk of developing multiple LVL, resulting in the development of second ESCC in patients with HNSCC. Ultimately, increased local acetaldehyde exposure thus appears to be a critical determinant of the phenomenon of 'field cancerization'.	Cohort 78 patients with squamous-cell carcinoma in the head and neck 										
116521		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Liu, Y.  et al. 2005	15654505				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		100650	20422	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
116522		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Iwai, N.  et al. 2004	15167446				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		100650	20423	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
116517	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Kee, J. Y.  et al. 2003	12824748				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Taehan Kan Hakhoe chi. 2003 Jun;9(2):89-97	[Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors]		100650	20418	2	2003	 These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.	Case:12/30 heavy drinkers (n=12) and alcoholic liver cirrhosis:patients (n=30);Control:42 healthy controls										
116518		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Landi, S.  et al. 2005	16006997				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		100650	20419	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
116514		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Matsuo, K.  et al. 2005	16332725				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese		CDC GDPinfo	217	Hs.632733			Carcinogenesis. 2005	A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan		100650	20415	2	2005			folate									
116515		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Osaka, R.  et al. 2003	12519453				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Thai	Thailand	CDC GDPinfo	217	Hs.632733			Psychiatry and clinical neurosciences. 2003 Feb;57(1):37-45	Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes and male alcohol use disorders in Khon Kaen, north-east Thailand		100650	20416	2	2003	The present findings suggest that one of the genetic factors that may be related to probable AUD among Thai males living in the north-east is the ADH2 gene.	Case:153 probably alcohol use disorder patients Khon Kaen, north-east Thailand;Control:153 matched controls										
116516		osteonecrosis	METABOLIC	MET	Femur Head Necrosis	12	12q24.2	ALDH2	110688728	110732167		Sakata, R.   2003	14768474				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			The Kurume medical journal. 2003 ;50(4-Mar):121-30	A case-control study of association between life-style, alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 genotype and idiopathic osteonecrosis of the femoral head.		100650	20417	2	2003	The reason for the insignificant multivariate OR of ALDH2(1/1) may be due to the strong confounding of alcohol consumption on the association between ALDH2 genotype and ION. For females, the small sample size made it impossible to produce any meaningful univariate analysis.	Case:43 cases of idiopathic osteonecrosis of femoral head without history of systemic corticosteroid use;Control:86 matched controls	alcohol green tea									
116511		alcohol abuse	CHEMDEPENDENCY	CHEM		12	12q24.2	ALDH2	110688728	110732167		Cao, X. R.  et al. 2005	15842823				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Chinese		CDC GDPinfo	217	Hs.632733			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 Mar;39(2):84-7	[Polymorphism of alcohol metabolizing-related enzyme genes and its correlation with drinking-behaviors in 201 cases of Chinese Han healthy population.]		100650	20412	2	2005	 The proportion of individuals carrying about susceptible genotypes of alcohol-related diseases in Chinese Han healthy population should be more than one half (68.16%), which calls on reinforcing the surveillance and preventing the alcohol-related diseases. Correlation between genotypes of ADH2 and ALDH2 and alcohol-related diseases should be more important.	Cohort 201 persons, including men 104, women 97 										
116512		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD	Hypertension|Substance Withdrawal Syndrome	12	12q24.2	ALDH2	110688728	110732167			16078602				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Ter Arkh. 2005 ;77(6):54-60	[Alcohol-induced arterial hypertension and genetic polymorphism of alcohol-metabolizing enzymes]		100650	20413	2	2005	 Population of alcoholics from the Moscow Region had allele polymorphism ADG2. Genetic polymorphism AlDG2 is not typical for this group. Hypertensive reaction was registered in the majority of alcoholics in AWS. Higher systolic, pulse pressure and heart rate were significantly higher in the AWS group with genotype ADG2-1/1. Controlled alcohol withdrawal entails a significant reduction of AP and HR.											
116513		alcohol abuse; liver disease, alcoholic	CHEMDEPENDENCY	CHEM		12	12q24.2	ALDH2	110688728	110732167		Zhang, Z. M.  et al. 2002	16135443				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Chinese		CDC GDPinfo	217	Hs.632733			Yi chuan. 2002 Sep;24(5):532-6	[Studies of genetic polymorphisms of ADH2 and ALDH2 among the Han population in Luoyang China]		100650	20414	2	2002												
116508	Y	pancreatitis	IMMUNE	IMM	Pancreatitis, Alcoholic	12	12q24.2	ALDH2	110688728	110732167		Kimura, S.  et al. 2000	11117576				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Digestive diseases and sciences. 2000 Oct;45(10):2013-7	Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis		100650	20409	2	2000	genetic polymorphism of the ALDH2 gene influences the risk of developing alcoholic pancreatitis in Japanese.	Case:31 patients with alcoholic pancreatitis:Japanese;Control:47 normal subjects	alcohol									
116509		esophageal cancer; oropharyngolaryngeal cancers; stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Head and Neck Neoplasms|Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Yokoyama, A.  et al. 2001	11238183				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese		CDC GDPinfo	217	Hs.632733			Carcinogenesis. 2001 Mar;22(3):433-9	Alcohol and aldehyde dehydrogenase gene polymorphisms and oropharyngolaryngeal, esophageal and stomach cancers in Japanese alcoholics.		100650	20410	2	2001	Alcoholics' population attributable risks due to ADH2/ALDH2 polymorphisms were estimated to be 82.0% for oropharyngolaryngeal cancer and 63.9% for esophageal cancer.	Case:159 patients with solitary or multiple aerodigestive tract cancers;Control:526 cancer free patients										
116510		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Cao, X.  et al. 2002	12545748				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Chinese	China	CDC GDPinfo	217	Hs.632733			Wei sheng yan jiu. 2002 Jun;31(3):156-9	[Compare of distributions of gene polymorphisms about alcohol metabolizing-related enzymes in five Chinese nationalities]		100650	20411	2	2002		Cohort individuals in five Chinese nationalities 										
116505		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Wang, X.  et al. 2001	11520401				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		China	CDC GDPinfo	217	Hs.632733			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		100650	16510	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
116506		stomach cancer	CANCER	CAN	Stomach Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Nan, H. M.  et al. 2005	15991278			promoter	Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		100650	17962	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
116507		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		De Jong, M. M.  et al. 2002	12433710				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		100650	20142	2	2002	Review article											
116502	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Nishiyori, A.  et al. 2005	15679538				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Psychiatry and clinical neurosciences. 2005 Feb;59(1):38-44	Alcohol drinking frequency is more directly associated with alcohol use disorder than alcohol metabolizing enzymes among male Japanese		100650	15164	2	2005	The present study shows that AUD was more directly and strongly associated with alcohol drinking than with alcohol metabolizing enzymes among male Japanese.	Control age-, gender-, or other confounder-matched controls;Case:153 male Japanese alcohol use disorder patients										
116503		esophageal cancer	CANCER	CAN	Esophageal Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Lewis, S. J.  et al. 2005	16103445				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1967-71	Alcohol, ALDH2, and esophageal cancer: ameta-analysis which illustrates the potentials and limitations of a Mendelian randomization approach.		100650	15165	2	2005												
116504		cholesterol, HDL; blood pressure, arterial; acetaldehyde; lipid peroxide	METABOLIC	MET		12	12q24.2	ALDH2	110688728	110732167			16365683				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Journal of human genetics. 2006 ;51(2):104-11	ALDH2 and CYP2E1 genotypes, urinary acetaldehyde excretion and the health consequences in moderate alcohol consumers		100650	16220	2	2005												
116499	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		12	12q24.2	ALDH2	110688728	110732167		Nishimura, F. T.  et al. 2003	12766630				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2003 May;27(5):841-8	Age-dependent changes in electroencephalographic responses to alcohol consumption in subjects with aldehyde dehydrogenase-2 genetic variations		100650	15161	2	2003	 The results suggest that both ALDH2 genotype and age as well as alcohol use habits modify alcohol sensitivity in the central nervous system, resulting in greater increases in EEG energy in response to alcohol intake in the older group of the NN subjects.	Cohort 74 										
116500		alcoholism; cytogenetic studies	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Takeshita, T.   2003	12806963				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	CDC GDPinfo	217	Hs.632733			Nippon eiseigaku zasshi Japanese journal of hygiene. 2003 May;58(2):254-9	[Gene-environmental interactions in alcohol-related health problems--contributions of molecular biology to behavior modifications]		100650	15162	2	2003	Providing services to determine these genotypes would be of great help for each individual to make a plan for tailor-made health promotion.	Cohort a Japanese occupational population 	alcohol									
116501	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease|Flushing	12	12q24.2	ALDH2	110688728	110732167		Yokoyama, T.  et al. 2003	14652286				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1227-33	Alcohol flushing, alcohol and aldehyde dehydrogenase genotypes, and risk for esophageal squamous cell carcinoma in Japanese men.		100650	15163	2	2003	The flushing questionnaire may be used in large-scale epidemiological studies as a surrogate marker of ALDH2 genotype to predict individual cancer risk.	Case:233 Japanese men with esophageal squamous cell:carcinoma;Control:610 cancer-free Japanese men										
116496		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q24.2	ALDH2	110688728	110732167			16351505				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese		CDC GDPinfo	217	Hs.632733			Nutrition and cancer. 2005 ;53(1):42-50	Folate, vitamin b(6), vitamin b(12), and vitamin b(2) intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan		100650	12601	2	2005			alcohol body mass dietary fiber folate smoking (tobacco) Vitamin B12 vitamin B2 Vitamin B6									
116497		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Choi, I. G.  et al. 2005	16125912				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			European neuropsychopharmacology. 2006 Feb;16(2):123-8	Genetic polymorphisms of alcohol and aldehyde dehydrogenase, dopamine and serotonin transporters in familial and non-familial alcoholism.		100650	13829	2	2005			family history									
116498		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD	Alcoholic Intoxication	12	12q24.2	ALDH2	110688728	110732167		Qu, W.  et al. 1999	11864460				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 1999 Mar;33(2):88-90	[Distribution of genotypes of alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 in Japanese twin children]		100650	15160	2	1999	 Not only the distribution of genotypes of ADH2 and ALDH2 is known, but also the sensitive individuals are found, which can help prevent alcohol related disease.											
116493	Y	liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic	12	12q24.2	ALDH2	110688728	110732167		Yan, M.  et al. 2003	14636437				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Zhonghua gan zang bing za zhi. 2003 Nov;11(11):654-6	[Relationship between ALDH gene polymorphism and alcoholic liver diseases]		100650	8622	2	2003	 The gene polymorphism of ALDH is close to ALD. The allele of ALDH2*2 may be a negative risk factor for the developing of ALD	Control:controls;Case alcoholic liver disease and alcohol dependent:patients										
116494		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Kuriki, K.  et al. 2005	15780035				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	CDC GDPinfo	217	Hs.632733			Asian Pacific journal of cancer prevention. 2005 Jan-Mar;6(1):62-8	Relation of the CD36 gene A52C polymorphism to the risk of colorectal cancer among Japanese, with reference to with the aldehyde dehydrogenase 2 gene Glu487Lys polymorphism and drinking habit.		100650	8623	2	2005	Our findings suggest a significant interaction between alcohol consumption and the CD36 gene A52C polymorphism related to the metabolism of long-chain fatty acids and oxidized LDL in the etiology of colorectal cancer.	Case:128 colorectal cancer cases;Control:238 cancer-free controls	alcohol									
116495		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	12	12q24.2	ALDH2	110688728	110732167		You, W. C.  et al. 2005	15734972				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Chinese		CDC GDPinfo	217	Hs.632733			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		100650	10980	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)	CYP2E1	DraI and RsaI					Y	smoking (tobacco)	advanced precancerous gastric lesions
116490		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium	12	12q24.2	ALDH2	110688728	110732167		Okubo And, T.  et al. 2001	11410744				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2001 Jun;25(6 Suppl):59S-62S	Polymorphism of the neuropeptide Y gene: anassociation study with alcohol withdrawal.		100650	8617	2	2001	 Our data suggested that a C to T substitution at the 5671 locus of the NPY gene may be associated with seizure during alcohol withdrawal.	Case:163 male alcoholics with different withdrawal symptoms (93 with delirium tremens, 71 with seizures, 49 with hallucinations):Japan;Control:98 male controls:Japan										
116491	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Matsushita, S.  et al. 2001	11600186				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	CDC GDPinfo	217	Hs.632733			Psychiatry research. 2001 Oct;104(1):19-26	Alcoholism, ALDH2*2 allele and the A1 allele of the dopamine D2 receptor gene: an association study		100650	8618	2	2001	Although there remains a possibility that the DRD2 TaqI A polymorphism plays some role in modifying the phenotype of the disease, these results suggest that neither the A1 allele nor the homozygous A1 genotype is associated with alcoholism.	Control:295 unrelated controls:Japan;Case:583:alcoholics:Japan										
116492		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Hasin, D.  et al. 2002	12351924				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Israel|Russia	CDC GDPinfo	217	Hs.632733			Alcoholism, clinical and experimental research. 2002 Sep;26(9):1315-21	Alcohol dependence symptoms and alcohol dehydrogenase 2 polymorphism: Israeli Ashkenazis,Sephardics, and recent Russian immigrants.		100650	8619	2	2002	 ADH2*2 protects against dependence severity in Jewish samples. Future work in larger samples should address genetic and environmental factors that affect the relationship of ADH2*2 to alcohol consumption and dependence.	Cohort 68 subjects in a random community sample of Israeli Ashkenazis, recent Russian immigrants (also Ashkenazis), and Sephardics 										
116487		alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Mulligan CJ 2003	12884000				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	american Indian		KGB	217	Hs.632733			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		100650	478	1	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe										
116488		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Huang SY 2004	15084894				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733			Alcoholism, clinical and experimental research. 2004 Mar;28(3):374-84	Possible interaction of alcohol dehydrogenase and aldehyde dehydrogenase genes with the dopamine D2 receptor gene in anxiety-depressive alcohol dependence.		100650	479	1	2004	 ANX/DEP ALC is a specific subtype of alcohol dependence. Because ANX/DEP ALC was associated with the DRD2 gene only under the stratification of ADH1B*1/*2 or ALDH2*1/*1, the DRD2 gene might interact with the ADH1B gene and the ALDH2 gene, respectively, in the development of ANX/DEP ALC in the Taiwan Han Chinese population.											
116489		diabetes, type 2	METABOLIC	MET	Kidney Failure, Chronic|Diabetes Mellitus, Type 2	12	12q24.2	ALDH2	110688728	110732167		Kuriyama S 1998	9752691				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			Y Wang	217	Hs.632733	Complications		Nippon Jinzo Gakkai shi. 1998 Jul;40(5):344-8	Aldehyde dehydrogenase 2(ALDH2) gene polymorphism in NIDDM patients with chronic renal failure		100650	480	1	1998												
116484		non-smokers.	OTHER	OTH		12	12q24.2	ALDH2	110688728	110732167		Ishikawa H 2003	14568296				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733			Mutation research. 2003 Nov;541(2-Jan):71-80	Effects of ALDH2 gene polymorphisms and alcohol-drinking behavior on micronuclei frequency in non-smokers.		100650	475	1	2003												
116485		elevated liver enzymes and metabolic syndrome	METABOLIC	MET	Liver Diseases|Fatty Liver|Metabolic Syndrome X	12	12q24.2	ALDH2	110688728	110732167		Murata C 2003	14506613				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733			Metabolism:  clinical and experimental. 2003 Sep;52(9):1096-101	Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association with elevated liver enzymes and metabolic syndrome.		100650	476	1	2003	In conclusion, evaluating the genotype of ALDH2 and beta3-AR may assist in predicting and preventing the development of fatty liver which may be related to multiple risk factor syndrome.	Cohort 148 male workers 35 years of age										
116486		liver cancer risk in HCV antibody-positive	CANCER	CAN	Hepatitis C|Liver Neoplasms|Liver Cirrhosis	12	12q24.2	ALDH2	110688728	110732167		Kato S 2003	12940444				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	KGB	217	Hs.632733			Scandinavian journal of gastroenterology. 2003 Aug;38(8):886-93	Genetic polymorphisms of aldehyde dehydrogenase 2, cytochrome p450 2E1 for liver cancer risk in HCV antibody-positive japanese patients and the variations of CYP2E1 mRNA expression levels in the liver due to its polymorphism.		100650	477	1	2003	 ALDH2 and CYP2E1 polymorphisms may modify the risk of development of HCC against the background of LC in the Japanese. Polymorphism analysis of alcohol-metabolizing enzymes using molecular techniques may be useful in the risk assessment of liver cancer in patients with hepatitis C virus infection.											
116481	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Cell Transformation, Neoplastic	12	12q24.2	ALDH2	110688728	110732167		Muto M et al. 2002	12376487				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733	phenomenon of field cancerization		Carcinogenesis. 2002 Oct;23(10):1759-65	Association between aldehyde dehydrogenase gene polymorphisms and the phenomenon of field cancerization in patients with head and neck cancer.		100650	472	1	2002	These results reveal strong evidence for a gene-environmental interaction between the ALDH2-2 allele and alcohol consumption, for the risk of developing multiple LVL, resulting in the development of second ESCC in patients with HNSCC. Ultimately, increased local acetaldehyde exposure thus appears to be a critical determinant of the phenomenon of 'field cancerization'.	Cohort 78 patients with squamous-cell carcinoma in the head and neck										
116482		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Harada S et al. 1999	10397278				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	KGB	217	Hs.632733			Alcoholism, clinical and experimental research. 1999 Jun;23(6):958-62	A novel polymorphism (-357 G/A) of the ALDH2 gene: linkage disequilibrium and an association with alcoholism.		100650	473	1	1999	 This new polymorphism in the ALDH2 promoter is present in all populations studied. Further analysis in other ethnic groups is necessary to establish this as an additional risk factor for alcoholism.											
116483		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Matsushita S et al. 2001	11600186				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	KGB	217	Hs.632733			Psychiatry research. 2001 Oct;104(1):19-26	Alcoholism ALDH2*2 allele and the A1 allele of the dopamine D2 receptor gene: an association study.		100650	474	1	2001	Although there remains a possibility that the DRD2 TaqI A polymorphism plays some role in modifying the phenotype of the disease, these results suggest that neither the A1 allele nor the homozygous A1 genotype is associated with alcoholism.	Control:295 unrelated controls:Japan;Case:583:alcoholics:Japan										
116478	Y	alcohol liver disease	OTHER	OTH	Liver Diseases, Alcoholic	12	12q24.2	ALDH2	110688728	110732167		Shibuya A et al. 1988	3189338				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese		KGB	217	Hs.632733			American journal of human genetics. 1988 Nov;43(5):744-8	Genotypes of alcohol-metabolizing enzymes in Japanese with alcohol liver diseases: a strong association of the usual Caucasian-type aldehyde dehydrogenase gene (ALDH1(2)) with the disease.		100650	469	1	1988												
116479	Y	alcoholism	CHEMDEPENDENCY	CHEM	Fetal Alcohol Syndrome|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Viljoen DL et al. 2001	11781503				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	mixed-ancestry	South Africa	KGB	217	Hs.632733			Alcoholism, clinical and experimental research. 2001 Dec;25(12):1719-22	Alcohol dehydrogenase-2*2 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed-ancestry population of the Western Cape Province South Africa.		100650	470	1	2001	 The ADH2*2 allele is significantly more common in control individuals, suggesting that it may either confer protection or be a marker for a protective effect against FAS among individuals of mixed ancestry in the Western Cape Province of South Africa.											
116480	Y	multiple oesophageal dysplasia	CANCER	CAN	Esophageal Neoplasms|Head and Neck Neoplasms|Neoplasms, Second Primary|Precancerous Conditions	12	12q24.2	ALDH2	110688728	110732167		Muto M et al. 2000	10896918				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733			Gut. 2000 Aug;47(2):256-61	Association of aldehyde dehydrogenase 2 gene polymorphism with multiple oesophageal dysplasia in head and neck cancer patients.		100650	471	1	2000	 The mutant ALDH2 allele appears to be a risk indicator for multiple LVL in head and neck cancer patients. Accumulation of acetaldehyde due to low ALDH2 activity may play a critical role in cancerous changes throughout the mucosa in the upper aerodigestive tract.											
116475	Y	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism|Atrophy	12	12q24.2	ALDH2	110688728	110732167		Yamauchi M et al. 2001	11410735				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KGB	217	Hs.632733			Alcoholism, clinical and experimental research. 2001 Jun;25(6 Suppl):16S-8S	Association of polymorphism in the alcohol dehydrogenase 2 gene with alcohol-induced testicular atrophy.		100650	466	1	2001	 The ADH21 allele may be associated with alcoholic testicular atrophy.											
116476	Y	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Brain Damage, Chronic|Alcoholism|Atrophy	12	12q24.2	ALDH2	110688728	110732167		Maezawa Y et al. 1996	8659684				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	KGB	217	Hs.632733			Alcoholism, clinical and experimental research. 1996 Feb;20(1 Suppl):29A-32A	Association of restriction fragment-length polymorphisms in the alcohol dehydrogenase 2 gene with alcoholic brain atrophy.		100650	467	1	1996												
116477	Y	liver cirrhosis	OTHER	OTH	Liver Cirrhosis, Alcoholic	12	12q24.2	ALDH2	110688728	110732167		Yamauchi M et al. 1995	8583138				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese	Japan	KGB	217	Hs.632733			Journal of hepatology. 1995 Nov;23(5):519-23	Association of a restriction fragment length polymorphism in the alcohol dehydrogenase 2 gene with Japanese alcoholic liver cirrhosis.		100650	468	1	1995	 These results suggest that the Mae III polymorphisms of the ADH2 gene may be associated not only with susceptibility to alcoholic liver cirrhosis, but also with the development of alcoholism in Japanese patients.											
116471		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	4	4q11-q13	ALB	74488869	74505996		Watanabe, I.  et al. 2003	12732844				Albumin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000477.3	Japanese	Japan	CDC GDPinfo	213	Hs.418167			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		103600	20408	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
116472		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Chromosome Deletion|Genetic Predisposition to Disease	9	9q21.13	ALDH1A1	74705406	74757789		Spence, J. P.  et al. 2003	14506398			promoter	Aldehyde dehydrogenase 1 family, member A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000689.3	African Americans		CDC GDPinfo	216	Hs.76392			Alcoholism, clinical and experimental research. 2003 Sep;27(9):1389-94	Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations.		100640	8614	2	2003	 ALDH1A1*2 and ALDH1A1*3 may influence ALDH1A1 gene expression. Both ALDH1A1*2 and ALDH1A1*3 produce a trend in an African American population that may be indicative of an association with alcoholism; however, more samples are required to validate this observation. The underlying mechanisms contributing to these trends are still unknown.	Control Asian and African American controls;Case Asian and African American alcoholics:Cohort Asian, Caucasian, Jewish, and African American:populations										
116473	Y	alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q21.13	ALDH1A1	74705406	74757789		Ehlers, C. L.  et al. 2004	15597079			promoter	Aldehyde dehydrogenase 1 family, member A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000689.3	Indian	California	CDC GDPinfo	216	Hs.76392			Alcoholism, clinical and experimental research. 2004 Oct;28(10):1481-6	Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in southwest California Indians.		100640	8615	2	2004	 Results from this study suggest that ALDH1A1*2 may be associated with protection from the development of alcohol and other substance use disorders.	Cohort 463 adult men and women recruited from 8 contiguous Indian reservations 										
116468		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Kamel, F.  et al. 2003	12896855				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2003 Aug;111(10):1335-9	Amyotrophic Lateral Sclerosis, Lead, and Genetic Susceptibility: Polymorphisms in thedelta-Aminolevulinic Acid Dehydratase and Vitamin D Receptor Genes		125270	15157	2	2003	These findings suggest that genetic susceptibility conferred by polymorphisms in (italic)ALAD(/italic) may affect ALS risk, possibly through a mechanism related to internal lead exposure.	Case amyotrophic lateral sclerosis cases:1993-1996;Control:controls										
116469	N	cytogenetic studies	OTHER	OTH		9	9q33.1	ALAD	115188412	115203391		Wu, F. Y.  et al. 2004	15258767				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			International archives of occupational and environmental health. 2004 Aug;77(6):395-400	Lack of association of delta-aminolevulinic acid dehydratase genotype with cytogenetic damage in lead workers.		125270	15158	2	2004	 A significant association existed between both SCE and HFC levels and lead exposure. However, different ALAD genotypes were not found to be associated with levels of blood lead and ZPP in the three groups.	Case:26/31 high lead exposure individuals (26 workers) and low lead exposure individuls;Control:30 controls who lived in an area uncontaminated by:lead										
116470	Y	lead toxicity	METABOLIC	MET	Lead Poisoning	9	9q33.1	ALAD	115188412	115203391		Perez-Bravo, F.  et al. 2004	15386154				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1		Chile	CDC GDPinfo	210	Hs.1227			Archives of environmental contamination and toxicology. 2004 Aug;47(2):276-80	Association between aminolevulinate dehydrase genotypes and blood lead levels in children from a lead-contaminated area in Antofagasta, Chile.		125270	15159	2	2004	Because ALAD-2 frequency was higher in subjects living within 200 m from the lead deposits, we hypothesized that a long-term selective pressure against the presence of the ALAD-1 allele is the cause of the overrepresentation of the ALAD-2 allele in children living in proximity to the recently removed lead stores.	Cohort 93 children recruited from schools located near a lead- contaminated area Antofagasta, Chile 	lead									
116465		lead toxicity	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Chia, S. E.  et al. 2005	16203232				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2005 Oct;113(10):1313-7	Possible influence of delta-aminolevulinic acid dehydratase polymorphism and susceptibility to renal toxicity of lead: a study of a Vietnamesepopulation.		125270	8612	2	2005												
116466		lead toxicity	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Weaver, V. M.  et al. 2005	16263504				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Korean		CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2005 Nov;113(11):1509-15	Associations of uric acid with polymorphisms in the delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase genes in Korean lead workers.		125270	8613	2	2005	We conclude that  genetic polymorphisms may modify uric acid mediation of lead-related adverse renal effects.											
116467		hematopoietic outcomes, lead exposure related; lead	HEMATOLOGICAL	HEM		9	9q33.1	ALAD	115188412	115203391		Lee, S. S.  et al. 2001	11800328				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Korean		CDC GDPinfo	210	Hs.1227			Scandinavian journal of work, environment & health. 2001 Dec;27(6):402-11	Associations of lead biomarkers and delta-aminolevulinic acid dehydratase and vitamin D receptor genotypes with hematopoietic outcomes in Korean lead workers.		125270	15156	2	2001	 Lead must have a chronic, cumulative effect on hemoglobin and hematocrit levels, and any speculated mechanism cannot merely involve short-term plasma or target organ lead levels.	Cohort 933 individuals (798 lead workers and 135 unexposed referents) 	lead									
116462		cytogenetic studies	OTHER	OTH		9	9q33.1	ALAD	115188412	115203391		Suzen, H. S.  et al. 2004	15587989				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Turkish		CDC GDPinfo	210	Hs.1227			Biochemical genetics. 2004 Dec;42(12-Nov):461-7	Molecular analysis of delta-aminolevulinic acid dehydratase (ALAD) gene polymorphism in a Turkish population.		125270	8609	2	2004	This study provides the first analysis of the allele frequency distribution of the ALAD gene in a Turkish population. The results are compared with other world populations.	Cohort 230 Turkish individuals 										
116463		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor	9	9q33.1	ALAD	115188412	115203391		Louis, E. D.  et al. 2005	15954127				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Movement disorders. 2005 Sep;20(9):1170-7	Interaction between blood lead concentration and delta-amino-levulinic acid dehydratase gene polymorphisms increases the odds of essential tremor.		125270	8610	2	2005												
116464		brain cancer	CANCER	CAN	Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Rajaraman, P.  et al. 2005	16140629				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2005 Sep;113(9):1209-11	Delta-aminolevulinic acid dehydratase polymorphism and risk of brain tumors in adults.		125270	8611	2	2005												
116459		lead toxicity	METABOLIC	MET	Kidney Diseases	9	9q33.1	ALAD	115188412	115203391		Weaver, V. M.  et al. 2003	14527840				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Korean	Korea	CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2003 Oct;111(13):1613-9	Associations of Renal Function with Polymorphisms in the Delta-Aminolevulinic Acid Dehydratase, Vitamin D Receptor, and Nitric Oxide Synthase Genes in Korean Lead Workers		125270	8606	2	2003	No significant differences were seen in renal outcomes by VDR genotype, nor was consistent effect modification observed. The ALAD findings could be explained by lead-induced hyperfiltration.	Cohort 798 lead workers 										
116460		lead toxicity	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Lu, J.  et al. 2002	14694653				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Chinese		CDC GDPinfo	210	Hs.1227			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2002 Aug;20(4):277-81	[The polymorphism of delta-aminolevulinic acid dehydratase and genetic susceptibility to lead toxicity in Uighur and Yi population in China]		125270	8607	2	2002	 The genetic susceptibility of ALAD polymorphism to lead toxicity may exhibit in a lead dose-dependent manner.	Cohort 214/144 Uighur individuals from Xinjiang autonomous region (n=214) and Yi individuals from Yunnan province (n=144) 										
116461		lead toxicity	METABOLIC	MET	Lead Poisoning	9	9q33.1	ALAD	115188412	115203391		Theppeang, K.  et al. 2004	15213514				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1		Korea	CDC GDPinfo	210	Hs.1227			Journal of occupational and environmental medicine. 2004 Jun;46(6):528-37	Associations of patella lead with polymorphisms in the vitamin D receptor, delta-aminolevulinic acid dehydratase and endothelial nitric oxide synthase genes.		125270	8608	2	2004	There was evidence that the relation between age and patella lead was modified by both the VDR and eNOS genotypes.	Cohort 652 lead workers Korea 										
116456		lead blood levels; zinc	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Zheng, Y.  et al. 2001	11860952				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Chinese		CDC GDPinfo	210	Hs.1227			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2001 Jan;35(1):16-8	[The gene polymorphism of delta-aminolevulinate dehydratase (ALAD) in 530 cases of Chinese Han population]		125270	8603	2	2001	 The frequency of the ALAD(2) allele in Chinese Han population was similar to that in Asian populations and lower than that in Caucasian population.	Cohort 530 unrelated Han individuals Central Plain of China 										
116457		renal function; uricemia	UNKNOWN	UNK	Kidney Diseases	9	9q33.1	ALAD	115188412	115203391		Wu, M. T.  et al. 2003	12611663				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2003 Mar;111(3):335-41	A delta-aminolevulinic acid dehydratase (ALAD) polymorphism may modify the relationship of low-level lead exposure to uricemia and renal function: the normative aging study.		125270	8604	2	2003	Our findings suggest that ALAD genotype may modify the effect of lead on the renal excretion of uric acid as well as overall renal function among middle-aged and elderly men who had community (nonoccupational) exposures to lead. Additional research is needed to ascertain whether this constitutes a true gene-environment interaction and, if so, its clinical impact.	Cohort 709 subjects who participated in the Department of Veterans Affairs Normative Aging Study 1991-1995 	lead									
116458		cytogenetic studies	OTHER	OTH	Lead Poisoning	9	9q33.1	ALAD	115188412	115203391		Duydu, Y.  et al. 2003	12972060				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Mutation research. 2003 Sep;540(1):79-88	Influence of delta-aminolevulinic acid dehydratase (ALAD) polymorphism on the frequency of sister chromatid exchange (SCE) and the number of high-frequency cells (HFCs) in lymphocytes from lead-exposed workers.		125270	8605	2	2003	On the basis of this result we suggest that ALAD 1-1 subjects might be more susceptible to cytogenetic effects of lead exposure than ALAD 1-2 subjects. There were no ALAD 2-2 subjects in the exposed and control groups.	Cohort 71 voluntary male workers 										
116453		hypertension	CARDIOVASCULAR	CARD	Hypertension	9	9q33.1	ALAD	115188412	115203391		Lee, B. K.  et al. 2001	11335187				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Environmental health perspectives. 2001 Apr;109(4):383-9	Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes.		125270	8600	2	2001	We speculate that the BsmI polymorphism may be in linkage disequilibrium with another functional variant at the VDR locus or with a nearby gene.	Control:135 controls without occupational exposure to lead;Case:798 Korean lead workers:Korea	lead	vitamin D receptor (VDR)		aminolevulinic acid dehydratase (ALAD)				Y	lead toxins	blood pressure and hypertension
116454	Y	lead blood levels; zinc	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Zheng, Y.  et al. 2001	11413692				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDPinfo	210	Hs.1227			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2001 Mar;35(2):96-7	[Relationship between delta-aminolevulinic acid dehydratase gene polymorphism and blood levels of lead and zinc protoporphyrin in children exposed to lead]		125270	8601	2	2001	 The results suggest that the ALAD1-2/2-2 genotype may influence the body burden and blood toxicity of lead in high lead exposed children.	Cohort 370 chilren exposed to a higher level environmental lead 	lead									
116455		brain cancer	CANCER	CAN	Lead Poisoning|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Niu, T.  et al. 2001	11459423				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Chinese	China	CDC GDPinfo	210	Hs.1227			Human biology; an international record of research. 2001 Jun;73(3):429-42	Detection of novel ALAD gene polymorphisms using denaturing high-performance liquid chromatography.		125270	8602	2	2001	The allele frequencies of C13298, T13348, T13847, T15096, and C15762 alleles were 21.3%, 2.3%. 82.1%, 62.5%, and 1.1%, respectively. All five mutations were detected by both DHPLC and direct DNA sequencing. No previously reported missense ALAD mutations were found in this Chinese population.	Cohort 48 unrelated Chinese women 										
116450		schizophrenia	PSYCH	PSY	Schizophrenia	14	14q32.32	AKT1	104306731	104333125			16395129				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Taiwanese		CDC GDPinfo	207	Hs.525622			Psychiatric genetics. 2006 Feb;16(1):39-41	Absence of significant associations between four AKT1 SNP markers and schizophrenia in the Taiwanese population		164730	15155	2	2006												
116451	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q33.1	ALAD	115188412	115203391	n	Muramatsu T et al. 1994	8080400				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			KGB	210	Hs.1227			Arukoru Kenkyuto Yakubutsu Ison. 1994 Jun;29(3):179-84	Lack of association between alcoholism and alleles in the delta-aminolevulinic acid dehydratase (ALAD) gene		125270	463	1	1994	We conclude that  our data do not support the evidence of an allelic association between the ALAD1 and alcoholism.											
116452		Amyotrophic Lateral Sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Kamel F 2003	12896855				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			KGB	210	Hs.1227			Environmental health perspectives. 2003 Aug;111(10):1335-9	Amyotrophic lateral sclerosis, lead~~~ and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes.		125270	464	1	2003	These findings suggest that genetic susceptibility conferred by polymorphisms in (italic)ALAD(/italic) may affect ALS risk, possibly through a mechanism related to internal lead exposure.	Case amyotrophic lateral sclerosis cases:1993-1996;Control:controls										
116447	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.32	AKT1	104306731	104333125		Matsubara, A.  et al. 2001	11508278				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2			CDC GDPinfo	207	Hs.525622			Diabetologia. 2001 Jul;44(7):910-3	Isolation and characterization of the human AKT1 gene, identification of 13 single nucleotide polymorphisms (SNPs), and their lack of association with Type II diabetes		164730	8599	2	2001	The results of our studies show that the AKT1 gene is not a major contributor to susceptibility to Type II diabetes mellitus in Ashkenazi Jews.	Case Ashkenazi Jewish patients with Type II diabetes:mellitus;Control not specified in abstract										
116448	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	14	14q32.32	AKT1	104306731	104333125		Ikeda, M.  et al. 2004	15522255				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Japanese	Japan	CDC GDPinfo	207	Hs.525622			Biological psychiatry. 2004 Nov;56(9):698-700	Association of AKT1 with schizophrenia confirmed in a Japanese population.		164730	15153	2	2004	 Our study provides support for the theory that AKT1 is a susceptibility gene for Japanese schizophrenia. Fine linkage disequilibrium mapping is required for a conclusive result.	Control:437 control subjects;Case:503 Japanese schizophrenic cases										
116449	Y	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Genetic Predisposition to Disease	14	14q32.32	AKT1	104306731	104333125		Ikeda, M.  et al. 2005	15982448				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Japanese		CDC GDPinfo	207	Hs.525622			The international journal of neuropsychopharmacology. 2006 Feb;9(1):77-81	Positive association of AKT1 haplotype to Japanese methamphetamine use disorder.		164730	15154	2	2005												
116444		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10p15-p14	AKR1C3	4924795	5139878		Bonner, M. R.  et al. 2005	15781210				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4			CDC GDPinfo	8644	Hs.78183			Mutation research. 2005 Apr;582(2-Jan):53-60	Green tea consumption, genetic susceptibility, PAH-rich smoky coal, and the risk of lung cancer.		603966	18753	2	2005	Among GSTM1 null homozygotes, those who consumed green tea daily had a non-significant reduction in risk compared with non-consumers. Green tea consumption had no effect among OGG1 Ser(326) homozygotes or GSTM1 carriers. In addition, AKR1C3 genotype did not modulate the effect of green tea consumption. The chemopreventive effects of green tea in this population may be restricted to individuals who are particularly susceptible to oxidative stress and oxidative DNA damage.	Case:122 lung cancer cases;Control:122:controls	green tea									
116446	Y	schizophrenia	PSYCH	PSY	Schizophrenia	14	14q32.32	AKT1	104306731	104333125	< 0.04	Emamian ES 2004	14745448	one three-SNP haplotype (SNP2/3/4, TCG)			V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	US of northern European origin		KGB	207	Hs.525622			Nature genetics. 2004 Feb;36(2):131-7	Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia.		164730	462	1	2004		Case:335										
116441		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	10	10p15-p14	AKR1C3	4924795	5139878		Roberts, R. O.  et al. 2005	16302261				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4			CDC GDPinfo	8644	Hs.78183			The Prostate. 2006 Mar;66(4):392-404	Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.		603966	9776	2	2005	 Polymorphisms in HSD3B1, CYP19, AKR1C3 genes may be associated with an enlarged prostate in older men. These data provide insights into genes that should be examined further for their potential role in the pathogenesis of BPH. (c) 2005 Wiley-Liss, Inc.											
116442		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	10	10p15-p14	HSD17B5	5126609	5131577		Qin, K.  et al. 2005	16263811				ldo-keto reductase family 1, member C3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ939577			CDC GDPinfo	8644	Hs.78183			The Journal of clinical endocrinology and metabolism. 2006 Jan;91(1):270-6	Identification of a Functional Polymorphism of the Human Type 5 17{beta}-Hydroxysteroid Dehydrogenase Gene Associated with Polycystic Ovary Syndrome.			11357	2	2005	 SNP-71G is a functional polymorphism that may contribute to testosterone excess in a subset of PCOS patients.											
116443	Y	lung cancer	CANCER	CAN	Lung Neoplasms	10	10p15-p14	AKR1C3	4924795	5139878		Lan, Q.  et al. 2004	15284179				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4			CDC GDPinfo	8644	Hs.78183			Carcinogenesis. 2004 Nov;25(11):2177-81	Oxidative damage-related genes AKR1C3 and OGG1 modulate risks for lung cancer due to exposure to PAH-rich coal combustion emissions		603966	18750	2	2004	These results suggest that SNPs in the oxidative stress related-genes AKR1C3 and OGG1 may play a role in the pathogenesis of lung cancer in this population, particularly among heavily exposed women. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and other populations with substantial exposure to PAHs.	Control:113:controls;Case:118 lung cancer cases Xuan Wei, China	coal dust polycyclic aromatic hydrocarbons									
116438	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7q33	AKR1B10	133862938	133876700		Neamat-Allah, M.  et al. 2001	11703436				Aldo-keto reductase family 1, member B10 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020299.3			CDC GDPinfo	57016	Hs.116724			Diabetic medicine. 2001 Nov;18(11):906-14	Analysis of the association between diabetic nephropathy and polymorphisms in the aldose reductase gene in Type 1 and Type 2 diabetes mellitus		604707	8596	2	2001	 Meta-analyses provide more convincing evidence of a role for the ALR2-106 marker than for the microsatellite marker in diabetic nephropathy (DN). More studies are now required to confirm these results and to establish whether the ALR2-106 polymorphism has a functional role in DN.	Case:471 patients with nephropathy from 4 independent cohorts of cases and controls drawn from two ethnic:populations;Control:494 controls diabetic patients without nephropathy from 4 independent cohorts of cases and controls drawn from two ethnic populations										
116439		retinopathy, diabetic; nephropathy in other diseases	VISION	VIS	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Disease Progression|Genetic Predisposition to Disease	7	7q33	AKR1B10	133862938	133876700		Fanelli, A.  et al. 2002	12365083				Aldo-keto reductase family 1, member B10 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020299.3	Caucasian		CDC GDPinfo	57016	Hs.116724			Archives des maladies du coeur et des vaisseaux. 2002 Jul-Aug;95(8-Jul):701-8	[Polymorphism of aldose reductase gene and susceptibility to retinopathy and nephropathy in Caucasians with type 1 diabetes]		604707	8597	2	2002	In conclusion, the association of these AR genetic variants seems absent about the renal risk and slight about the retinal risk associated to the type 1 diabetes mellitus.	Cohort 310 type 1 diabetic patients whom the renal status is prospectively assessed since 1989 in one single center Angers University Hospital Cohort 369 non-diabetic control subjects from the general French population Cohort 494 type 1 diabetic patients who are suffering from proliferative retinopathy associated with a variable seriousness nephropathy 										
116440		retinopathy, diabetic; nephropathy in other diseases	VISION	VIS	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q33	AKR1B10	133862938	133876700		Wang, Y.  et al. 2003	12882871				Aldo-keto reductase family 1, member B10 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020299.3	Chinese	Hong Kong	CDC GDPinfo	57016	Hs.116724			Diabetes care. 2003 Aug;26(8):2410-5	Phenotypic heterogeneity and associations of two aldose reductase gene polymorphisms with nephropathy and retinopathy in type 2 diabetes.		604707	8598	2	2003	 Chinese type 2 diabetic patients exhibited phenotypic differences in terms of risk factors for both diabetic nephropathy and diabetic retinopathy. Both the z-2 allele of (CA)(n) polymorphism and T allele of ALR2 were independently associated with severe diabetic microvascular complications.	Cohort 738 Chinese type 2 diabetic patients 										
116435		neuropathy, diabetic	NEUROLOGICAL	NEUR	Diabetic Neuropathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Donaghue, K. C.  et al. 2005	16176189				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDPinfo	231	Hs.521212			Diabetic medicine. 2005 Oct;22(10):1315-20	The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents.		103880	8595	2	2005	 In this study we have shown that Z-2/Z-2 genotype is significantly associated with the development of pupillary abnormality, an early indicator of diabetic autonomic neuropathy, in adolescent Australian patients with Type 1 diabetes.											
116436		hypospadias	DEVELOPMENTAL	DEV	Hypospadias|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Thai, H. T.  et al. 2005	16174723	V89L			Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDPinfo	231	Hs.521212			The Journal of clinical endocrinology and metabolism. 2005 Dec;90(12):6695-8	The Valine allele of the V89L polymorphism in the five-alpha reductase gene confers a reduced risk for hypospadias.		103880	11356	2	2005	 This finding is in accordance with the assumption that functional polymorphisms may play an important role in complex disorders such as hypospadias when several genes as well as environmental factors contribute to the etiology.											
116437	Y	retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Lee, S. C.  et al. 2001	11449315				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Chinese	Hong Kong	CDC GDPinfo	231	Hs.521212			Ophthalmic genetics. 2001 Jun;22(2):63-7	Association of retinopathy with a microsatellite at 5' end of the aldose reductase gene in Chinese patients with late-onset Type 2 diabetes.		103880	15152	2	2001	In conclusion, our data suggest that the occurrence of diabetic retinopathy in the Chinese population may be influenced by clinical and metabolic factors. The aldose reductase gene may be implicated, but is not likely to play a major role.	Cohort 384 patients who had late-onset (age at diagnosis >/=35 years) Type 2 diabetes, but no clinical evidence of cataract. Hong Kong 										
116432		nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Gosek, K.  et al. 2005	15637423			promoter	Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDPinfo	231	Hs.521212			Nephron Experimental nephrology [electronic resource]. 2005 ;99(3):e63-7	C-106T polymorphism in promoter of aldose reductase gene is a risk factor for diabetic nephropathy in type 2 diabetes patients with poor glycaemic control.		103880	8592	2	2005	 The C-106T polymorphism in the AR gene is a risk factor for development of diabetic nephropathy in type 2 diabetes in patients with poor glycaemic control.	Cohort 444 patients with type 2 diabetes divided into three groups according to renal status 										
116433		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Petrovic, M. G.  et al. 2005	15745835				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Caucasian	Slovenia	CDC GDPinfo	231	Hs.521212			Journal of diabetes and its complications. 2005 Mar-Apr;19(2):70-3	Aldose reductase (AC)n gene polymorphism and susceptibility to diabetic retinopathy in Type 2 diabetes in Caucasians.		103880	8593	2	2005	Our results suggest that the Z-2 allele of the aldose reductase gene is a risk factor for the development of diabetic retinopathy in a group of Caucasian participants with Type 2 diabetes.	Case:124 Caucasian participants with Type 2 diabetes with diabetic retinopathy;Control:81 Caucasian diabetic participants without retinopathy with diabetes										
116434		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy	7	7q35	AKR1B1	133777646	133794428		Zghal-Mokni, I.  et al. 2005	15973199				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Tunisian		CDC GDPinfo	231	Hs.521212			J Fr Ophtalmol. 2005 Apr;28(4):386-90	[Association study between diabetic retinopathy and aldose reductase gene polymorphism in Tunisians]		103880	8594	2	2005												
116429		diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Sivenius, K.  et al. 2004	15277434				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2		Finland	CDC GDPinfo	231	Hs.521212			Diabetes care. 2004 Aug;27(8):2021-6	Aldose reductase gene polymorphisms and peripheral nerve function in patients with type 2 diabetes		103880	8589	2	2004	 The C-106T polymorphism of the ALR gene may contribute to an early development of neurophysiologic deterioration in type 2 diabetic patients.	Control:126 nondiabetic subjects;Case:85 Finnish type 2 diabetic										
116430		diabetic glomerulopathy; glomerulopathy, diabetic; kidney failure	UNKNOWN	UNK	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Zhao, H. L.  et al. 2004	15504980				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDPinfo	231	Hs.521212			Diabetes. 2004 Nov;53(11):2984-91	Association of Glomerulopathy With the 5'-End Polymorphism of the Aldose Reductase Gene and Renal Insufficiency in Type 2 Diabetic Patients		103880	8590	2	2004	These data suggest genetic, biochemical, pathophysiological, and clinical correlations among the aldose reductase gene, extracellular matrix, classic diabetic glomerulopathy, and renal insufficiency. Gene mutation, cellular transdifferentiation, growth factor upregulation, extracellular matrix expansion, and glomerular filtration impairment are the primary abnormalities in type 2 diabetic patients with nephropathy.	Cohort 186 consecutive patients with type 2 diabetes 										
116426	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Liu, Y. F.  et al. 2002	11874426				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Chinese	China|Hong Kong	CDC GDPinfo	231	Hs.521212			Diabetic medicine. 2002 Feb;19(2):113-8	Diabetic nephropathy is associated with the 5'-end dinucleotide repeat polymorphism of the aldose reductase gene in Chinese subjects with Type 2 diabetes		103880	8586	2	2002	 The 5' -ALR2 dinucleotide repeat polymorphism is associated with the development of diabetic nephropathy in Southern Chinese with Type 2 diabetes.	Cohort 265 Southern Chinese with Type 2 diabetes [classified as normoalbuminuric (n = 128), microalbuminuric (n = 85) or albuminuric (n = 52)] 										
116427	Y	nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Makiishi, T.  et al. 2003	14582038				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Japanese		CDC GDPinfo	231	Hs.521212			American journal of kidney diseases. 2003 Nov;42(5):943-51	C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.		103880	8587	2	2003	 The TT genotype of the C-106T polymorphism of AKR1B1 increases the risk for DN in Japanese subjects with type 2 diabetes mellitus, which could be linked in part to greater expression of AR.	Control:220 controls (normoalbuminuria with diabetes duration >/=10 years);Case:228 Japanese type 2 diabetic cases (microalbuminuria or overt proteinuria)										
116428	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Lajer, M.  et al. 2004	15270790				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Danish		CDC GDPinfo	231	Hs.521212			Diabetic medicine. 2004 Aug;21(8):867-73	Association of aldose reductase gene Z+2 polymorphism with reduced susceptibility to diabetic nephropathy in Caucasian Type 1 diabetic patients.		103880	8588	2	2004	 The Z+2 allele of the ALR2 promoter polymorphism is associated with a reduced susceptibility to diabetic nephropathy in Danish Type 1 diabetic patients, suggesting a minor role for the polyol pathway in the pathogenesis of diabetic kidney disease. No association of the ALR2 polymorphism with diabetic retinopathy was found.	Case:102 type 1 diabetic case trios;Case:431 type 1 diabetic patients with diabetic nephropathy;Control:468 patients with longstanding Type 1 diabetes and persistent normoalbuminuria;Control:98 control trios										
116423		diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Demaine, A.  et al. 2000	11095596				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDPinfo	231	Hs.521212			Investigative ophthalmology & visual science. 2000 Dec;41(13):4064-8	Polymorphisms of the aldose reductase gene and susceptibility to retinopathy in type 1 diabetes mellitus		103880	8583	2	2000	 These results confirm previous studies in other populations and in type 2 diabetes showing that polymorphisms in the promoter region of the ALR2 gene are associated with susceptibility to diabetic retinopathy.	Case:159 patients with diabetic retinopathy;Control:70 diabetics without retinopathy (diabetes of 20:years' duration) (uncomplicated)										
116424		microvascular complications	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 1	7	7q35	AKR1B1	133777646	133794428		Ng, D. P.  et al. 2001	11182213				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2		Australia	CDC GDPinfo	231	Hs.521212			Diabetes research and clinical practice. 2001 Apr;52(1):21-7	Aldose reductase (AC)(n) microsatellite polymorphism and diabetic microvascular complications in Caucasian Type 1 diabetes mellitus		103880	8584	2	2001	While the size of the study makes it impossible to exclude a weak linkage, it is concluded that the 5'-ALR2 polymorphism is not useful as a genetic marker for susceptibility to diabetic microvascular complications in Caucasian Type 1 diabetic patients.	Case subjects diabetes without complications;Case subjects with diabetes and microvascular:complications;Control normal non-diabetic control subjects										
116425	N	nephropathy, diabetic; retinopathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Park, H. K.  et al. 2002	11796181				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Korean		CDC GDPinfo	231	Hs.521212			Diabetes research and clinical practice. 2002 Feb;55(2):151-7	(AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus.		103880	8585	2	2002	In conclusion, the results of the study in Korean type 2 diabetic patients do not support the hypothesis that polymorphism at the 5' end of the aldose reductase gene contributes to the susceptibility to diabetic microvascular complications.	Cohort 127 Korean patients with type 2 diabetes 										
116420	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	15	15q24-q25	AKAP13	83724874	84093590		Wirtenberger, M.  et al. 2005	16234258				A kinase (PRKA) anchor protein 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006738.4			CDC GDPinfo	11214	Hs.459211			Carcinogenesis. 2005	Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer.		604686	15150	2	2005												
116421	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428		Makiishi T 2003	14582038	C-106T			Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Japanese		Y Wang	231	Hs.521212	Complications		American journal of kidney diseases. 2003 Nov;42(5):943-51	C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.		103880	486	1	2003	 The TT genotype of the C-106T polymorphism of AKR1B1 increases the risk for DN in Japanese subjects with type 2 diabetes mellitus, which could be linked in part to greater expression of AR.	Control:220 controls (normoalbuminuria with diabetes duration >/=10 years);Case:228 Japanese type 2 diabetic cases (microalbuminuria or overt proteinuria)										
116422	N	microangiopathy	OTHER	OTH	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7q35	AKR1B1	133777646	133794428	n	Isermann B et al. 2000	10831660				aldo-keto reductase family 1, member B1 (aldose reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR610878	caucasian		KGB	231	Hs.521212			Nephrology, dialysis, transplantation. 2000 Jun;15	(CA)(n) dinucleotide repeat polymorphism at the 5'-end of the aldose reductase gene is not associated with microangiopathy in Caucasians with long-term diabetes mellitus 1.		103880	487	1	2000												
116416	N	alopecia areata	IMMUNE	IMM	Alopecia Areata|Polyendocrinopathies, Autoimmune	21	21q22.3	AIRE	44530190	44542530		Tazi-Ahnini, R.  et al. 2002	12542742				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1			CDC GDPinfo	326	Hs.129829			Tissue antigens. 2002 Dec;60(6):489-95	Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of apotentially functional AIRE polymorphism with alopecia universalis		607358	15149	2	2002	We found no association between the AIRE G961G variant and mild (patchy) alopecia areata or alopecia totalis. However, the AIRE 961G allele is a potent risk factor (> 3) for the severest form of alopecia areata, and for disease of early age at onset (at 30 years). The change from serine to arginine in the SAND domain of AIRE protein may have a significant effect on AIRE DNA-binding activity. Moreover, our results could provide a rational explanation of the unusually high frequency of AA in APECED patients, supporting the concept of AA as an autoimmune disease.	Control:175 matched Caucasian controls;Case:202 alopecia areata patients										
116417	Y	chronic haemolytic anaemia.	OTHER	OTH	Anemia, Hemolytic	9	9q34.1	AK1	129668489	129679762		Qualtieri A et al. 1997	9432020				Adenylate kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000476.1			KGB	203	Hs.175473			British journal of haematology. 1997 Dec;99(4):770-6	Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.		103000	459	1	1997												
116418		chronic haemolytic anaemia.	OTHER	OTH	Anemia, Hemolytic|Chronic Disease	9	9q34.1	AK1	129668489	129679762		Bianchi P et al. 1999	10233365				adenylate kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000476.1			KGB	203	Hs.175473			British journal of haematology. 1999 Apr;105(1):75-9	A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop CGA --> TGA) associated with chronic haemolytic anaemia.		103000	460	1	1999												
116413		hypoparathyroidism	METABOLIC	MET	Hypoparathyroidism|Polyendocrinopathies, Autoimmune	21	21q22.3	AIRE	44530190	44542530			16313305			3' UTR	Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1			CDC GDPinfo	326	Hs.129829			International journal of immunogenetics. 2005 Dec;32(6):393-400	Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism		607358	8582	2	2005												
116414	N	diabetes, type 1; Addison's disease; Graves; thyroiditis, Hashimoto	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 2|Addison Disease|Polyendocrinopathies, Autoimmune|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	21	21q22.3	AIRE	44530190	44542530		Meyer, G.  et al. 2001	11298085				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1			CDC GDPinfo	326	Hs.129829			Clinical endocrinology. 2001 Mar;54(3):335-8	Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome.		607358	15147	2	2001	 The two studied AIRE-1 mutations are so rare in the general population that they can not contribute to susceptibility for the more common isolated autoimmune disorders.	Case Patients with isolated autoimmune endocrine:disorders;Control healthy controls										
116415	N	autoimmune; polyendocrinopathy-candidiasis-ectodermal dystrophy; polyendocrinopathy-candidiasis-ectodermal; dystrophy, autoimmune	IMMUNE	IMM	Polyendocrinopathies, Autoimmune	21	21q22.3	AIRE	44530190	44542530		Halonen, M.  et al. 2002	12050215				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1			CDC GDPinfo	326	Hs.129829			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2568-74	AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.		607358	15148	2	2002	We conclude that  mutation of AIRE per se has little influence on the APECED phenotype, whereas, in contrast to earlier reports, HLA class II is a significant determinant.	Cohort patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 										
116410		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	AIF1	31691011	31692777		Nishimura, M.  et al. 2003	12559634				Allograft inflammatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032955.1	Japanese	Japan	CDC GDPinfo	199	Hs.76364			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes.		601833	14407	2	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
116411	Y	Leber congenital amaurosis/LCA	OTHER	OTH	Blindness|Cataract|Retinal Degeneration	17	17p13.1	AIPL1	6267782	6279243		Dharmaraj, S.  et al. 2004	15249368				Aryl hydrocarbon receptor interacting protein-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014336.3			CDC GDPinfo	23746	Hs.279887			Archives of ophthalmology. 2004 Jul;122(7):1029-37	The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.		604392	15146	2	2004	 The phenotype of LCA in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset. Rod ERG abnormalities may be present in heterozygous carriers of AIPL1 mutations. CLINICAL RELEVANCE: Understanding and recognizing the phenotype of LCA may help in defining the course and severity of the disease. Identifying the gene defect is the first step in preparation for therapy since molecular diagnosis in LCA will mandate the choice of treatment.	Cohort 303 patients with Leber congenital amaurosis 										
116412	N	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Polyendocrinopathies, Autoimmune|Thyroiditis, Autoimmune	21	21q22.3	AIRE	44530190	44542530		Nithiyananthan R et al. 2000	10720083				autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383			KGB	326	Hs.129829			The Journal of clinical endocrinology and metaboli	A heterozygous deletion of the autoimmune regulator (AIRE1) gene autoimmune thyroid disease and type 1 diabetes: no evidence for association.		607358	544	1	2000	We conclude, therefore, that the 13-bp deletion of the AIRE1 gene is not a susceptibility locus for the more common autoimmune endocrinopathies in the United Kingdom.											
116406		Asthma. total serum IgE	IMMUNE	IMM	Asthma	12	12p13	AICDA	8646028	8656706		Noguchi E 2001	11544457				Activation-induced cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020661.1		Japan	KCB	57379	Hs.149342			The Journal of allergy and clinical immunology. 2001 Sep;108(3):382-6			605257	6790	1	2001	 The 7888C/T polymorphism might be associated with the pathogenesis of atopic asthma and the regulation of total serum IgE levels.											
116407	N	atopy	IMMUNE	IMM	Hypersensitivity	12	12p13	AICDA	8646028	8656706	n	Isidoro-Garcia M 2003	12897760	7888 C/T			Activation-induced cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020661.1	Spanish	Spain	KGB	57379	Hs.149342			The Journal of allergy and clinical immunology. 2003 Aug;112(2):460; author reply 460-1	Lack of association between the 7888 C/T polymorphism in the AID gene and atopy in a Spanish population.		605257	6791	1	2003												
116408	Y	asthma	IMMUNE	IMM	Asthma	12	12p13	AICDA	8646028	8656706		Cui, T. P.  et al. 2003	15182647				Activation-induced cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020661.1			CDC GDPinfo	57379	Hs.149342			Xi bao yu fen zi mian yi xue za zhi. 2003 Nov;19(6):552-3	[Correlation between activation-induced cytidine deaminase gene polymorphism and atopic asthma and plasma IgE in adult]		605257	8581	2	2003	 The 8408 T/T genotype of AICDA is correlated with atopic asthma and total plasma IgE level in adult.	Control:controls;Case asthma patients										
116409	Y	asthma	IMMUNE	IMM	Asthma	12	12p13	AICDA	8646028	8656706		Cui, T.  et al. 2003	12973929				Activation-induced cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020661.1	Chinese		CDC GDPinfo	57379	Hs.149342			Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(2):134-7	Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma.		605257	11839	2	2003	These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China.	Case asthmatic patients:China;Control:controls										
116402		bone density	METABOLIC	MET	Osteoporosis	3	3q27	AHSG	187813580	187821799		Dvornyk, V.  et al. 2003	12914574				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese		CDC GDPinfo	197	Hs.324746			Annals of human genetics. 2003 May;67(Pt 3):216-27	Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for EthnicDifference of Bone Mass		138680	19155	2	2003	If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.	Cohort 1,131 randomly selected individuals from Caucasian and Chinese populations 										
116404		bone density	METABOLIC	MET	Osteoporosis	3	3q27	AHSG	187813580	187821799		Dvornyk, V.  et al. 2005	16117875				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese, Caucasian		CDC GDPinfo	197	Hs.324746			Chinese medical journal. 2005 Aug;118(15):1235-44	Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bonemass.		138680	19158	2	2005	 The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.											
116405		Asthma. total serum IgE	IMMUNE	IMM	Asthma	12	12p13	AICDA	8646028	8656706		Noguchi E 2001	11544457				Activation-induced cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020661.1	Japanese	Japan	KCB	57379	Hs.149342			The Journal of allergy and clinical immunology. 2001 Sep;108(3):382-6			605257	6789	1	2001	 The 7888C/T polymorphism might be associated with the pathogenesis of atopic asthma and the regulation of total serum IgE levels.											
116398	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	3	3q27	AHSG	187813580	187821799		Siddiq, A.  et al. 2005	16046317				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	French	France	CDC GDPinfo	197	Hs.324746			Diabetes. 2005 Aug;54(8):2477-81	A synonymous coding polymorphism in the alpha2-Heremans-schmid glycoprotein gene is associated with type 2 diabetes in French Caucasians.		138680	8580	2	2005												
116400	Y	fetuin-A	UNKNOWN	UNK	Kidney Failure, Chronic|Cardiovascular Diseases|Malnutrition	3	3q27	AHSG	187813580	187821799		Stenvinkel, P.  et al. 2005	15882283				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1			CDC GDPinfo	197	Hs.324746			Kidney international. 2005 Jun;67(6):2383-92	Low fetuin-A levels are associated with cardiovascular death: Impact of variations in thegene encoding fetuin.		138680	15144	2	2005	 The present study shows that a low fetuin-A level is associated with malnutrition, inflammation, and atherosclerosis (carotid plaques), as well as with increased cardiovascular and all-cause mortality. Because the present study demonstrates an effect of variations in the AHSG gene on both circulating fetuin-A levels and outcome, this indicates that ESRD patients with the AHSG 256Ser allele are at risk of accelerated vascular calcification.	Cohort 258 end-stage renal disease (ESRD) patients (161 males) starting renal replacement therapy [glomerular filtration rate (GFR) 6.8 +/- 0.2 mL/min] aged 52 +/- 1years 										
116401	Y	bone size	DEVELOPMENTAL	DEV		3	3q27	AHSG	187813580	187821799			16318278				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese		CDC GDPinfo	197	Hs.324746			Yi chuan xue bao. 2005 Nov;32(11):1128-35	Alpha2-HS glycoprotein gene is associated with bone size at the hip in Chinese		138680	15145	2	2005												
116395	Y	insulin	METABOLIC	MET	Obesity|Thinness	3	3q27	AHSG	187813580	187821799		Dahlman, I.  et al. 2004	15599699				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1			CDC GDPinfo	197	Hs.324746			Diabetologia. 2004 Nov;47(11):1974-9	alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action.		138680	8577	2	2004	Our results are in agreement with a threshold model of susceptibility for insulin resistance and type 2 diabetes, in which specific genetic loci regulate intermediate molecular phenotypes. When an individual's set of susceptibility alleles at such loci exceeds a threshold, clinical disease occurs. Lipolysis in adipocytes appears to be a phenotype that is particularly sensitive to variation in AHSG.	Cohort 188/176 lean (n=188) and obese (n=176) otherwise healthy women 										
116396	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q27	AHSG	187813580	187821799		Geroldi, D.  et al. 2005	16002217				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Italian	Italy	CDC GDPinfo	197	Hs.324746			Neuroscience letters. 2005 Oct;386(3):176-8	Genetic association of alpha2-Heremans-Schmid glycoprotein polymorphism with late-onset Alzheimer's disease in Italians.		138680	8578	2	2005												
116397	Y	lipolysis	METABOLIC	MET	Obesity	3	3q27	AHSG	187813580	187821799		Lavebratt, C.  et al. 2005	16024912				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1			CDC GDPinfo	197	Hs.324746			Journal of lipid research. 2005 Oct;46(10):2278-81	Polymorphism of the AHSG gene is associated with increased adipocyte {beta}2-adrenoceptor function.		138680	8579	2	2005	We conclude that  a common variation (Thr230Met) in the AHSG gene is associated with a marked increase in beta2-adrenoceptor sensitivity in subcutaneous fat cells, which may be of importance in body weight regulation.		clonidine dobutamine									
116391		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p15	AHR	17304831	17352299		Le Marchand, L.  et al. 2005	16103451				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		600253	16262	2	2003												
116392	N	Osteoporosis	METABOLIC	MET		3	3q27	AHSG	187813580	187821799	n	Liu XH 2003	14667137			coding sequence	Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese		Yongjun Liu	197	Hs.324746	BMD		Calcif Tissue Int. 2003 Sep;73(3):244-50.	No Evidence for Linkage and/or Association of Human Alpha2-HS Glycoprotein Gene with Bone Mineral Density Variation in Chinese Nuclear Families.		138680	458	1	2003	Using the QTDT (quantitative trait transmission disequilibrium test), we found no significant results for association or linkage between the AHSG gene and BMD variation at the spine or hip. Our data provided no evidence to support the AHSG gene as a quantitative trait locus (QTL) for the BMD variation in a Chinese population.											
116393	Y	endometriosis	REPRODUCTION	REP	Endometriosis	3	3q27	AHSG	187813580	187821799		Kim, J. G.  et al. 2004	15589849				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Korean		CDC GDPinfo	197	Hs.324746			Fertility and sterility. 2004 Dec;82(6):1497-500	Association between human alpha 2-Heremans Schmidt glycoprotein (AHSG) polymorphism and endometriosis in Korean women.		138680	8575	2	2004	Endometriosis is associated with the AHSG gene polymorphism in Korean women.	Control:105 women without endometriosis;Case:79 women with endometriosis:Korean										
116387	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Zhang, D. S.  et al. 2002	11866883				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	Chinese		CDC GDPinfo	196	Hs.171189			Acta pharmacologica Sinica. 2002 Feb;23(2):188-92	Nonassociation of aryl hydrocarbon receptor genotypes with susceptibility to bladder cancer in Shanghai population.		600253	15141	2	2002	 The locus G1768 of human AHR gene seems to be monomorphic among Chinese in this area. The significant distribution difference at locus G1721A of human AHR gene between Chinese Han and Caucasian was confirmed. This study did not support the association of AHR G1721A polymorphism with higher risk to bladder cancer among the residents in this area, either in a group of occupationally benzidine-exposed individuals or among the persons who never have an obvious aromatic amine exposure record.	Case a bladder cancer group with the occupational exposure to benzidine:Shanghai;Control a non-occupational bladder cancer patient group whose members lack an obvious aromatic amine exposure record;Control a normal population in the same city as controls	benzidine									
116388		breast cancer	CANCER	CAN		7	7p15	AHR	17304831	17352299		Fukushima-Uesaka, H.  et al. 2004	15499202				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	Japanese		CDC GDPinfo	196	Hs.171189			Drug metabolism and pharmacokinetics. 2004 Aug;19(4):320-6	Genetic Variations of the AHR Gene Encoding Aryl Hydrocarbon Receptor in a Japanese Population		600253	15142	2	2004	The allele frequencies were 0.010 for 1459A>G (Asn487Asp) and 0.002 for the other 3 variations. Also detected in this analysis was the known nonsynonymous single nucleotide polymorphism 1661G>A (Arg554Lys) at a 0.444 frequency.	Cohort 242 Japanese individuals 										
116389	N	endometriosis	REPRODUCTION	REP	Endometriosis	7	7p15	AHR	17304831	17352299		Watanabe, T.  et al. 2001	11393538				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Journal of human genetics. 2001 ;46(6):342-6	Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis ofpolymorphism in endometriosis.		600253	15333	2	2001	No association was found between uterine endometriosis and any polymorphisms in the AHRR, AHR, ARNT, or CYP1A1 genes analyzed in the present study.	Cohort 108 healthy women Japan 										
116384		dementia	PSYCH	PSY	Dementia|Alzheimer Disease|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Lin, G. F.  et al. 2003	12852830				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	Chinese	China	CDC GDPinfo	196	Hs.171189			Acta pharmacologica Sinica. 2003 Jul;24(7):651-6	Polymorphism of alpha-estrogen receptor and aryl hydrocarbon receptor genes in dementia patients in Shanghai suburb.		600253	10403	2	2003	 The distribution of ER polymorphisms was significantly different between Chinese and some other ethnic populations. The results suggested that ER-alpha gene polymorphisms might be related to the individual susceptibility to AD, especially in the females. However, it did not support the association of Ahr gene polymorphism with higher risk of senile dementia.	Control:125 healthy individuals selected from the same:community;Case:52 Chinese senile demential patients:Shanghai, China										
116385	Y	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p15	AHR	17304831	17352299		Dialyna, I. A.  et al. 2001	11408954				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			International journal of molecular medicine. 2001 Jul;8(1):79-87	Genetic polymorphisms and transcriptional pattern analysis of CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes in breast cancer.		600253	10945	2	2001	Genotyping analysis did not show any correlation to breast cancer risk. However, RT-PCR analysis provided evidence that CYP1A1, AhR, GSTM1, GSTP1 and GSTT1 genes are frequently deregulated in breast cancer and could be used as molecular biomarkers for better clinical management of such patients, with respect to chemotherapy.	Control:171 age and sex matched controls;Case:207 female breast cancer patients										
116386		breast cancer	CANCER	CAN		7	7p15	AHR	17304831	17352299		Wong, J. M.  et al. 2001	11207035				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Pharmacogenetics. 2001 Feb;11(1):85-94	Ethnic variability in the allelic distribution of human aryl hydrocarbon receptor codon 554 and assessment of variant receptor function in vitro		600253	15140	2	2001	We investigated the Lys554 allele in 386 individuals of various ethnic origins and found the	Cohort 277 Japanese population 										
116381	Y	azoospermia; oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Watanabe, M.  et al. 2004	15474075				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Fertility and sterility. 2004 Oct;82 Suppl 3:1067-71	Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibilityto dioxins.		600253	8573	2	2004	The Pro185Ala polymorphism in AHRR may constitute a susceptibility locus for dioxin-related male infertility. It appears that the negative feedback effect of AHRR on dioxin-related signaling is weaker for the proline allele than for the alanine allele, and that the hypomorphic function of the proline allele exerts a recessive adverse effect on male fertility.	Control:112 men with proven fertility;Case:123 Japanese men with azoospermia or severe:oligospermia										
116382	Y	micropenis	DEVELOPMENTAL	DEV	Congenital Abnormalities|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Soneda, S.  et al. 2005	15758562				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Endocrine journal. 2005 Feb;52(1):83-8	Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.		600253	8574	2	2005	The results suggest that the AHRR Pro185Ala polymorphism may constitute a susceptibility locus for the development of MP in response to dioxins.	Case:73 boys with micropenis (34 boys with mild MP from -2.1 to -2.5 SD and 39 boys with severe MP below -2.5 SD);Control:80 control males (50 boys and 30 fertile adult males)										
116383		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Tsuchiya, M.  et al. 2005	16084889				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Fertility and sterility. 2005 Aug;84(2):454-8	Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution toendometriosis susceptibility and severity.		600253	8836	2	2005	 AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.											
116378	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	20	20cen-q13.1	AHCY	32331736	32362982		Gellekink, H.  et al. 2004	15241484				S-adenosylhomocysteine hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000687.1			CDC GDPinfo	191	Hs.388004			European journal of human genetics. 2004 Nov;12(11):942-8	Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.		180960	15139	2	2004	The adjusted relative risk of venous thrombosis associated with the 112CT genotype compared with 112CC individuals was 1.27 (95% CI 0.55-2.94), whereas the -34CT genotype confers a risk of 1.25 (95% CI 0.44-3.52) compared with the wild-type genotype at this locus. However, the wide confidence intervals do not allow firm conclusions to be drawn.	Case recurrent venous thrombosis patients;Control:controls										
116379		CYP1A1 levels in lung tissue	METABOLIC	MET	Lung Neoplasms	7	7p15	AHR	17304831	17352299		Anttila, S.  et al. 2001	11505220				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			Pharmacogenetics. 2001 Aug;11(6):501-9	CYP1A1 levels in lung tissue of tobacco smokers and polymorphisms of CYP1A1 and aromatic hydrocarbon receptor.		600253	8571	2	2001	Our results thus indicate that the interindividual variation of CYP1A1 levels in smokers' lung tissue is not attributable to genetic polymorphisms of CYP1A1 or AHR tested in this study.	Cohort 73 active smokers 	smoking (tobacco)									
116380	N	lung cancer; CYP1A1 inducibility	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Cauchi, S.  et al. 2001	11698344				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	French	France	CDC GDPinfo	196	Hs.171189			Carcinogenesis. 2001 Nov;22(11):1819-24	Polymorphisms of human aryl hydrocarbon receptor (AhR) gene in a French population: relationshipwith CYP1A1 inducibility and lung cancer.		600253	8572	2	2001	In conclusion, none of the polymorphisms were found to play a key role in the CYP1A1 inducibility or in the susceptibility to develop lung cancer.	Control:162 controls not otherwise specified;Case:177 lung cancer patients										
116375		hyperoxaluria, primary, type 1	OTHER	OTH	Hyperoxaluria, Primary	2	2q36-q37	AGXT	241456834	241467210		Amoroso, A.  et al. 2001	11562405				Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000030.1			CDC GDPinfo	189	Hs.144567			Journal of the American Society of Nephrology. 2001 Oct;12(10):2072-9	AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.		604285	15136	2	2001	This study confirms the allelic heterogeneity of the AGXT, which could to some extent be responsible for the phenotypic heterogeneity in PH1.	Cohort 23 unrelated primary hyperoxaluria type 1 patients 										
116376		hyperoxaluias	OTHER	OTH	Hyperoxaluria, Primary	2	2q36-q37	AGXT	241456834	241467210		Rumsby, G.  et al. 2004	15327387				Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000030.1			CDC GDPinfo	189	Hs.144567			Kidney international. 2004 Sep;66(3):959-63	Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias		604285	15137	2	2004	 Limited mutation analysis can provide a useful first line test for PH1 and PH2 in patients in whom primary hyperoxaluria is suspected and in whom secondary causes have been excluded. Those patients in whom a single mutation, or no mutation, is found can then be selectively targeted for liver biopsy.	Cohort 365 unrelated individuals referred for diagnosis of PH1 and/or PH2 by liver enzyme analysis 										
116377		hperoxaluria, primary, type 1	OTHER	OTH	Hyperoxaluria, Primary	2	2q36-q37	AGXT	241456834	241467210		Monico, C. G.  et al. 2005	15849466				Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000030.1			CDC GDPinfo	189	Hs.144567			American journal of nephrology. 2005 Mar-Apr;25(2):183-8	Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.		604285	15138	2	2005	 In PHI, two mutations resulting in AGT mistargeting are associated with VB6 response. Whether this favorable effect is specific to the peroxisomal-to-mitochondrial mistargeting caused by these changes or due to another mechanism remains to be determined.	Cohort 23 primary hyperoxaluria type 1 patients diagnosed via hepatic enzyme analysis, hyperoxaluria and hyperglycolic aciduria or homozygosity for a known mutation, availability of pre- and post-VB6 24-hour urine oxalate and GFR >40 ml/min/1.73 m(2) 										
116372	Y	posttransplantation erythrocytosis	OTHER	OTH	Polycythemia|Postoperative Complications	X	Xq22-q23	AGTR2	115216030	115219848		Micozkadioglu, H.  et al. 2004	15013333				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Transplantation proceedings. 2004 Jan-Feb;36(1):161-3	Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.		300034	25835	2	2004	While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.	Cohort 96 renal transplant patients 										
116373		kidney transplant	IMMUNE	IMM		X	Xq22-q23	AGTR2	115216030	115219848		Akcay, A.  et al. 2004	15385810				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Transplantation. 2004 Sep;78(6):892-8	Association of the genetic polymorphisms of the renin-angiotensin system and endothelial nitric oxide synthase with chronic renal transplant dysfunction.		300034	25836	2	2004	 These findings suggest that the DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD.	Cohort 125 patients who underwent renal transplantation during a 5-year period 										
116374		hypertension	CARDIOVASCULAR	CARD	Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Liljedahl, U.  et al. 2003	12544508				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		300034	28033	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
116369		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	X	Xq22-q23	AGTR2	115216030	115219848		Hashizume, K.  et al. 2005	15914614				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Japanese	Japan	CDC GDPinfo	186	Hs.405348			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		300034	25832	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
116371		cysclosporine toxicity	PHARMACOGENOMIC	PHARM		X	Xq22-q23	AGTR2	115216030	115219848		Ozdemir, F. N.  et al. 2004	15013322				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Transplantation proceedings. 2004 Jan-Feb;36(1):128-30	The renin-angiotensin system and endothelial nitric oxide synthase gene polymorphisms and cyclosporine toxicity in renal transplant patients.		300034	25834	2	2004	We could not find any relation between cyclosporine toxicity and gene polymorphisms (P >.05), although the mean mg/kg/d dose was significantly high among cyclosporine toxicity group (P =.028, RR = 1.42). In recent studies angiotensin II and nitric oxide have been suggested to be related to cyclosporine toxicity; however, our results failed to reveal an association between cyclosporine toxicity and angiotensin II or nitric oxide-related gene polymorphisms.	Cohort 111 renal transplant patients 										
116366		retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Warpeha, K. M.  et al. 2003	12724690				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		300034	25829	2	2003	Review article											
116367		kidney disease	RENAL	REN	Urinary Tract Infections|Kidney Diseases|Kidney Failure, Chronic|Vesico-Ureteral Reflux	X	Xq22-q23	AGTR2	115216030	115219848		Pardo, R.  et al. 2003	12579398				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Pediatric nephrology (Berlin, Germany). 2003 Feb;18(2):110-4	Renin-angiotensin system polymorphisms and renal scarring		300034	25830	2	2003	We conclude that  genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR.	Control:40 patients with urinary tract infection and normal findings on renal ultrasonography and voiding:cystoureterogram;Case:69/110/27 patients with vesicoureteral reflux (n=69), reflux nephropathy (n=110) and chronic renal failure:(n=27)										
116368		graft-versus-host disease	IMMUNE	IMM	Kidney Neoplasms	X	Xq22-q23	AGTR2	115216030	115219848		Akcay, A.  et al. 2004	15013293				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Transplantation proceedings. 2004 Jan-Feb;36(1):35-7	Angiotensin-converting enzyme genotype is a predictive factor in the peak panel-reactive antibody response.		300034	25831	2	2004	This study suggests that genetic control of RAS activity correlates with production of anti-HLA antibodies, possibly explaining the relationship to chronic allograft outcome.	Cohort 133 dialysis patients 										
116363		nephropathy, congenital obstructive	RENAL	REN	Multicystic Dysplastic Kidney|Hydronephrosis|Ureteral Obstruction	X	Xq22-q23	AGTR2	115216030	115219848		Hahn, H.  et al. 2005	16133060				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Pediatric nephrology (Berlin, Germany). 2005 Nov;20(11):1541-4	Implication of genetic variations in congenital obstructive nephropathy.		300034	24020	2	2005												
116364		vesicoureteral reflux	OTHER	OTH	Vesico-Ureteral Reflux	X	Xq22-q23	AGTR2	115216030	115219848		Yim, H. E.  et al. 2004	14764974				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Korean		CDC GDPinfo	186	Hs.405348			American journal of nephrology. 2004 Mar-Apr;24(2):178-87	Genetic polymorphism of the renin-angiotensin system on the development of primary vesicoureteral reflux.		300034	24021	2	2004	 These findings indicate that a lower incidence of AT2 A-1332G transition is seen in primary VUR patients, at least in the Korean population. Also, in the case of combination of ACE and AT2 gene, the combination of ACE II genotype and AT2 A-1332G transition occurs infrequently in primary VUR.	Control:58 controls with no urological abnormalties;Case:67 primary vesicoureteral reflux patients										
116365		cough	OTHER	OTH	Cough|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Mukae, S.  et al. 2002	12522467				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3		Japan	CDC GDPinfo	186	Hs.405348			Journal of human hypertension. 2002 Dec;16(12):857-63	Association of polymorphisms of the renin-angiotensin system and bradykinin B2 receptor with ACE-inhibitor-related cough		300034	24022	2	2002	In conclusion, Susceptibility to develop cough is associated with a genetic variant of the bradykinin B2 receptor promoter; thus, it may be possible to identify those patients who will develop this adverse reaction to ACE inhibitors in advance.	Control:120 Japanese hypertensive patients without cough;Case:70 Japanese hypertensive patients with cough										
116360		renal function	OTHER	OTH	Glomerulonephritis, IGA|Kidney Failure, Chronic	X	Xq22-q23	AGTR2	115216030	115219848		Frimat L  et al. 2000	11053482				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Journal of the American Society of Nephrology. 2000 Nov;11(11):2062-7	Polymorphism of angiotensin converting enzyme, angiotensinogen, and angiotensin II type 1 receptor genes and end-stage renal failure in IgA nephropathy: IGARAS--a study of 274 Men.		300034	24017	2	2000	Compared with S(cr) and 24-P, genotypes DD, TT, and AA are unlikely to serve as clinically useful predictors of ESRF in IgAN.	Case:274 274 Caucasian men with biopsy-proven IgAN (n = 86, 112, and 76 in stages 1, 2, and 3, respectively										
116361		albuminuria	HEMATOLOGICAL	HEM	Albuminuria|Hypertension|Diabetes Mellitus, Type 2	X	Xq22-q23	AGTR2	115216030	115219848		Thomas, G. N.  et al. 2001	11200871				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Chinese	China	CDC GDPinfo	186	Hs.405348			Clinical nephrology. 2001 Jan;55(1):15-Jul	Albuminuria and the renin-angiotensin system gene polymorphisms in type-2-diabetic and in normoglycemic hypertensive Chinese		300034	24018	2	2001	 In this cohort of Chinese subjects, the ACE gene polymorphism D allele was less frequent in normoglycemic hypertensive patients with albuminuria and in type 2 diabetes.	Control:111 Chinese controls;Case:405 Chinese type 2 diabetics;Case:98 Chinese normoglycemic hypertensives										
116362		hypertension; renal dysfunction, posttransplantation	CARDIOVASCULAR	CARD	Kidney Diseases|Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Abdi, R.  et al. 2001	11544438				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Transplantation. 2001 Aug;72(4):726-9	Angiotensin gene polymorphism as a determinant of posttransplantation renal dysfunction and hypertension.		300034	24019	2	2001	 Pretransplantation testing of the ACE, AGT, and AT1 genotypes may assist clinicians in identifying patients at risk for chronic renal transplant dysfunction and hypertension.	Cohort 148 patients (77 men, 71 women) who underwent transplantation over a 5-year period 										
116357		myocardial infarct; cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Jones, A.  et al. 2003	12925562				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Hypertension. 2003 Oct;42(4):500-6	Genetic Variants of Angiotensin II Receptors and Cardiovascular Risk in Hypertension		300034	20405	2	2003	This is the first study to demonstrate an association of AT2R genotype with coronary risk, an effect that was confined to hypertensive subjects and supports the concept that the inducible AT2R is protective. Conversely, the AT1R1166CC genotype was associated with cardiovascular risk irrespective of blood pressure. These data are important to our understanding of the divergent role of angiotensin II acting at its receptor subtypes and coronary disease pathogenesis and for the development of future cardiovascular therapies.	Cohort 2,579 healthy UK men (mean age, 56.1+/-3.5 years; median follow-up, 10.1 years) 										
116358		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	X	Xq22-q23	AGTR2	115216030	115219848		Plummer, S.  et al. 2004	15221785				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Human mutation. 2004 Jul;24(1):14-20	Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia.		300034	20406	2	2004	no conclusion in abstract	Control normotensive pregnant women;Case preeclamptic pregnant women										
116359		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	X	Xq22-q23	AGTR2	115216030	115219848		Aoki, S.  et al. 2001	11324803				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Japanese heart journal. 2001 Jan;42(1):15-28	Genetic background in patients with acute myocardial infarction.		300034	20407	2	2001	These polymorphisms were found to be involved in the development of acute myocardial infarction, particularly in the younger patients, and it was concluded that the incidence of acute myocardial infarction might be reduced by management from the genotypes.	Case:150 patients with acute myocardial infarction:Japan;Control:150 healthy ate- and sex-matched controls:Japan										
116354		hypertension	CARDIOVASCULAR	CARD		X	Xq22-q23	AGTR2	115216030	115219848		Romano-Spica, V.  et al. 2003	12800945				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			European journal of epidemiology. 2003 ;18(3):211-9	Epidemiology of essential hypertension: the role ofgenetic polymorphism.		300034	20402	2	2003	Genetic data and methods are contributing more and more to epidemiological studies of complex diseases, and their application is influenced by information availability and Genome Project results.	Control:300 healthy unrelated subjects;Case:90 essential hypertensives										
116355	Y	congenital anomalies; renal disease	DEVELOPMENTAL	DEV	Urologic Diseases|Kidney Diseases|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Rigoli, L.  et al. 2004	15470205				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Italian	Italy	CDC GDPinfo	186	Hs.405348			Pediatric research. 2004 Dec;56(6):988-93	Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies.		300034	20403	2	2004	Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.	Case:102 children with congenital anomalies of the kidney and urinary tract:Italy;Control:92 healthy control subjects										
116356		blood pressure; aldosterone; glomerular filtration rate; renal plasma flow	CARDIOVASCULAR	CARD		X	Xq22-q23	AGTR2	115216030	115219848		Delles, C.  et al. 2000	11081769				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Journal of hypertension. 2000 Nov;18(11):1573-8	Lack of association between polymorphisms of angiotensin II receptor genes and response to short-term angiotensin II infusion.		300034	20404	2	2000	 The response to angiotensin II infusion does not differ across the the AT1- and AT2-receptor genotypes examined in our study. However, long-term effects of variants of angiotensin II receptor genes cannot be ruled out with this approach.	Cohort 120 male, white, young (26 +/- 3 years) subjects with normal or mildly elevated blood pressure 	angiotensin II infusion									
116351	N	vesicoureteral reflux	OTHER	OTH	Vesico-Ureteral Reflux	X	Xq22-q23	AGTR2	115216030	115219848		Yoneda, A.  et al. 2002	12187255				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			The Journal of urology. 2002 Sep;168(3):1138-41	Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux.		300034	15132	2	2002	 Although the AT2 gene has been reported to have a role in developmental anomalies of the kidney and ureter, our data indicate that it is not involved in the pathogenesis of primary familial vesicoureteral reflux.	Case:192 familial vesicoureteral reflux patients (82 male and 110 female);Control:213 controls (106 male and 107 female)										
116352	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Jin, J. J.  et al. 2003	12924622				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3		Japan	CDC GDPinfo	186	Hs.405348			Hypertension research. 2003 Jul;26(7):547-52	Association of angiotensin II type 2 receptor gene variant with hypertension		300034	15133	2	2003	This analysis showed that the C4599A polymorphism was associated with hypertension in women (p=0.0058), but not in men. Moreover, this female-specific association was pronounced in premenopausal women. The female-specific association may be helpful in conducting further molecular and biological studies on the relationship among sex, the renin-angiotensin system, and hypertension.	Cohort men and in women separately in two large Japanese populations Japan 										
116353		hypertension; myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Aoki, S.  et al. 2001	11446495				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Japanese circulation journal. 2001 Jul;65(7):621-6	The genetic factor in acute myocardial infarction with hypertension.		300034	15415	2	2001	Genetic variations in the AngII and BK-B2 receptors could prove to be significant pathophysiological mechanisms affecting essential hypertension and AMI, and genetic differences appear to be a new risk factor for these conditions.	Case:150 subjects with acute myocardial infarction with/without hypertension;Case:150 subjects with essential hypertension:Cohort:150 healthy, age- and sex-matched controls.										
116348	Y	hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Alfakih, K.  et al. 2004	15123577				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Hypertension. 2004 Jun;43(6):1189-94	Left ventricle mass index and the common, functional, X-linked angiotensin II type-2 receptor gene polymorphism (-1332 G/A) in patients with systemic hypertension.		300034	8569	2	2004	We observed an association between the angiotensin type-2 receptor (-1332 G) allele and the presence of left ventricular hypertrophy in hypertensive subjects.	Case:197 patients with sytemic hypertension;Control:60 normal volunteers										
116349		hypertension	CARDIOVASCULAR	CARD		X	Xq22-q23	AGTR2	115216030	115219848		Qiao, W. W.  et al. 2005	16080803				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):592-4	[Relation between the angiotensin II type 2 receptor polymorphism and essential hypertension in men]		300034	8570	2	2005	 The AGTR2 A1675G polymorphism might be involved in the development of essential hypertension in male Chinese.											
116350	Y	hypertension; left ventricular structure	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Schmieder, R. E.  et al. 2001	11153734	(+1675 G/A)			Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			Journal of the American College of Cardiology. 2001 Jan;37(1):175-82	Effect of the angiotensin II type 2-receptor gene (+1675 G/A) on left ventricular structure in humans.		300034	15131	2	2001	 Our data indicate that the X-chromosomal located +1675 G/A-polymorphism of the AT2-R gene is associated with LV structure in young male humans with early structural changes of the heart due to arterial hypertension.	Cohort 120 white, young male sbjects with normal or mildly elevated blood pressure 										
116345	Y	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Schmieder R	11153734	(+1675 G/A		other	Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	caucasian		Erdmann	186	Hs.405348	Left ventricular structure		Journal of the American College of Cardiology. 2001 Jan;37(1):175-82	Effect of the angiotensin II type 2-receptor gene (+1675 G/A) on left ventricular structure in humans.		300034	457	1	2001	 Our data indicate that the X-chromosomal located +1675 G/A-polymorphism of the AT2-R gene is associated with LV structure in young male humans with early structural changes of the heart due to arterial hypertension.	Cohort 120 white, young male sbjects with normal or mildly elevated blood pressure										
116346		myocardial infarct; heart disease, ischemic; hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Coronary Artery Disease|Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Herrmann, S. M.  et al. 2002	12453540				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDPinfo	186	Hs.405348			European journal of heart failure. 2002 Dec;4(6):707-12	Angiotensin II type 2 receptor gene polymorphism and cardiovascular phenotypes: the GLAECO andGLAOLD studies.		300034	8567	2	2002	 Our study gives rise to a potential implication of the AT2 G + 1675A polymorphism in LVH and coronary ischemia subgroups. Since these results were not consistent in both studies, but are partially in agreement with two independent investigations, further efforts should be made to elucidate the specific nature of these genotype/phenotype interactions.	Cohort 1968 individuals from two population samples (the Glasgow Heart Scan, GLAECO and Glasgow Heart Scan Old, GLAOLD studies) 										
116347		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Zhang, Y.  et al. 2003	14627490				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Chinese		CDC GDPinfo	186	Hs.405348			Acta pharmacologica Sinica. 2003 Nov;24(11):1089-93	Angiotensin II type 2 receptor gene polymorphisms and essential hypertension		300034	8568	2	2003	 The catalogue of SNPs of AT2R gene in Chinese population showed ethnic difference in DNA sequence variation. A polymorphism in the promoter region (1334T/C) of AT2R gene might be involved in the development of hypertension in Chinese population.	Control:250 normotensive controls;Case:250 Chinese patients with essential hypertension										
116342	N	Response to Angiotensin II Infusion	CARDIOVASCULAR	CARD		X	Xq22-q23	AGTR2	115216030	115219848	n	Delles C 2000	11081769	-2228 G/A polymorphism of the AT1 receptor gene and the +1675 G/A polymorphism of the AT2 receptor			Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Caucasian		KGB	186	Hs.405348			Journal of hypertension. 2000 Nov;18(11):1573-8	Lack of association between polymorphisms of angiotensin II receptor genes and response to short-term angiotensin II infusion.		300034	454	1	2000	 The response to angiotensin II infusion does not differ across the the AT1- and AT2-receptor genotypes examined in our study. However, long-term effects of variants of angiotensin II receptor genes cannot be ruled out with this approach.	Cohort 120 male, white, young (26 +/- 3 years) subjects with normal or mildly elevated blood pressure	angiotensin II infusion									
116343		hypertension	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Jones A 2003	12925562	AT1R1166A>C			Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			KGB	186	Hs.405348			Hypertension. 2003 Oct;42(4):500-6	Genetic variants of angiotensin II receptors and cardiovascular risk in hypertension.		300034	455	1	2003	This is the first study to demonstrate an association of AT2R genotype with coronary risk, an effect that was confined to hypertensive subjects and supports the concept that the inducible AT2R is protective. Conversely, the AT1R1166CC genotype was associated with cardiovascular risk irrespective of blood pressure. These data are important to our understanding of the divergent role of angiotensin II acting at its receptor subtypes and coronary disease pathogenesis and for the development of future cardiovascular therapies.	Cohort 2,579 healthy UK men (mean age, 56.1+/-3.5 years; median follow-up, 10.1 years)										
116344		hypertension	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Jones A 2003	12925562	AT2R1675A>G and 3123C>A			Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			KGB	186	Hs.405348			Hypertension. 2003 Oct;42(4):500-6	Genetic variants of angiotensin II receptors and cardiovascular risk in hypertension.		300034	456	1	2003	This is the first study to demonstrate an association of AT2R genotype with coronary risk, an effect that was confined to hypertensive subjects and supports the concept that the inducible AT2R is protective. Conversely, the AT1R1166CC genotype was associated with cardiovascular risk irrespective of blood pressure. These data are important to our understanding of the divergent role of angiotensin II acting at its receptor subtypes and coronary disease pathogenesis and for the development of future cardiovascular therapies.	Cohort 2,579 healthy UK men (mean age, 56.1+/-3.5 years; median follow-up, 10.1 years)										
116339		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	3	3q21-q25	AGTR1	149898347	149943480		Sunder-Plassmann, G.  et al. 2002	12394950				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		106165	26785	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
116340		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Liljedahl, U.  et al. 2003	12544508				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		106165	27891	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
116341		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	3	3q21-q25	AGTR1	149898347	149943480		Matayoshi, T.  et al. 2004	15824464				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		106165	28133	2	2004			thiazide diuretics									
116336		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	3	3q21-q25	AGTR1	149898347	149943480		Navarro-Lopez, F.   2002	11975906				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		106165	25827	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
116337		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	3	3q21-q25	AGTR1	149898347	149943480			16369102				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		106165	25828	2	2006			diet family history stress									
116338		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	3	3q21-q25	AGTR1	149898347	149943480		Humma, L. M.  et al. 2002	12116890				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		106165	26784	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
116333		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Kajander, O. A.  et al. 2001	11696658				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		106165	25824	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
116334		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Kosachunhanun, N.  et al. 2003	14530292				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		106165	25825	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
116335		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480			16314886				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			The pharmacogenomics journal. 2006 Jan-Feb;6(1):22-6	Interactions between five candidate genes and antihypertensive drug therapy on blood pressure		106165	25826	2	2005			antihypertensive									
116330		glaucoma; glaucoma, primary open-angle	VISION	VIS		3	3q21-q25	AGTR1	149898347	149943480		Rupert, J. L.  et al. 2003	12556231				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Indian		CDC GDPinfo	185	Hs.477887			Annals of human genetics. 2003 Jan;67(Pt 1):17-25	Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations.		106165	24014	2	2003	There was no evidence for an over-representation of the RAS alleles associated with cardiovascular fitness in the high-altitude Amerindian population when compared to the lowland Amerindian population.	Cohort a high-altitude native Andean population and a lowland Amerindian population, Maya Zuechua and Yucatan peninsula, Peru 										
116331	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies	3	3q21-q25	AGTR1	149898347	149943480		Wu, S.  et al. 2000	11776100				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Chinese medical journal. 2000 May;113(5):437-41	Relationship between the renin-angiotensin system genes and diabetic nephropathy in the Chinese.		106165	24015	2	2000	 Our study revealed RAS genes, ACE and AGT-M235T but not AGT-T174M, AGTR1 or REN genotypes, as contributing factors for DN in type 2 diabetes mellitus in Chinese.	Case diabetics with nephropathy;Case diabetics without nephropathy;Control not specified in abstract										
116332		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Zhu, X.  et al. 2003	12695419				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2003 May;41(5):1027-34	Associations between hypertension and genes in the renin-angiotensin system.		106165	24016	2	2003	Thus, in this biracial population sample, we find evidence that interindividual variation in the renin-angiotensin system genes contributes to hypertension risk.	Control:108/113 African American (n=108) and European American:(n=113) controls;Case:84/41 African American (n=84) and European American (n=41)hypertension cases										
116327		cerebral white matter lesions	NEUROLOGICAL	NEUR	Brain Injuries|Hypertension|Diabetes Mellitus	3	3q21-q25	AGTR1	149898347	149943480		Henskens, L. H.  et al. 2005	16109907				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1869-73	Associations of the angiotensin II type 1 receptor A1166C and the endothelial NO synthase G894T gene polymorphisms with silent subcortical white matter lesions in essential hypertension.		106165	24011	2	2005	 We found the AGTR1 A1166C as well as the NOS3 G894T polymorphisms to be associated with silent WMLs in the subcortical area.											
116328		esophageal varices	OTHER	OTH	Esophageal and Gastric Varices|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Coto, E.  et al. 2001	11707686				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of cardiovascular pharmacology. 2001 Dec;38(6):833-9	Variation at the Angiotensin-converting enzyme and endothelial nitric oxide synthase genes is associated with the risk of esophageal varices among patients with alcoholic cirrhosis		106165	24012	2	2001	The genotypes associated with an increased risk for varices have been linked to higher plasma levels of nitric oxide and reduced levels of ACE. These genotypes could have a vasodilatory effect in the systemic and splanchnic circulation, thus favoring the development of portocollaterals.	Case:145 male patients with liver cirrhosis;Control:200 healthy controls										
116329		arterial disease	CARDIOVASCULAR	CARD	Retinal Artery Occlusion|Hypertension, Renovascular|Arteriosclerosis	3	3q21-q25	AGTR1	149898347	149943480		Van Onna, M.  et al. 2004	15326089				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2004 Oct;44(4):448-53	Genetic risk of atherosclerotic renal artery disease: the candidate gene approach in a renalangiography cohort.		106165	24013	2	2004	We hypothesize that the Asp allele of the Glu298Asp polymorphism may predispose to the development of atherosclerotic lesions but that renal artery involvement depends on other factors, also.	Control:200/154 nondiseased normotensive (n=200) and hypertensive (n=154) patients from a family practice;Case:456 consecutive hypertensive patients referred for renal angiography on the suspicion of renovascular:hypertension										
116324		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Basset, = el-EA et al. 2002	11926202				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Clinical nephrology. 2002 Mar;57(3):192-200	Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS.		106165	24008	2	2002	 This study produced mainly negative results except for ecNOS-a allele, which seems to protect against severe hypertension. The explanation remains speculative but probably relates to the known cyclosporine-induced upregulation of ecNOS gene and enzyme activity.	Cohort 294 consecutive recipients receiving a first renal cadaveric allograft and all treated with CsA (the majority with triple therapy). 										
116325		nephropathy in other diseases	RENAL	REN	Glomerulonephritis, Membranous	3	3q21-q25	AGTR1	149898347	149943480		Stratta, P.  et al. 2004	14767013				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Nephrology, dialysis, transplantation. 2004 Mar;19(3):587-95	Interaction between gene polymorphisms of nitric oxide synthase and renin-angiotensin system in the progression of membranous glomerulonephritis.		106165	24009	2	2004	 This study is the first to demonstrate a role for an interaction between simultaneous variations of genes encoding for NOS and components of RAS in the progression of MGN. Interactions between various polymorphisms may explain conflicting results obtained in previous studies that examined single gene variations, since the effect of a single locus variation may be influenced by the simultaneous presence of other variant alleles in polygenic diseases such as primary GN. However, the small sample sizes and possible multiple interactions limited the interpretation of the current findings, which may represent true biological interaction or simply statistical interactions or spurious results due to the small sample sizes.	Case:117 patients with serum creatinine (s-Cr) <1.5 mg/dl at renal biopsy and follow-up >/==" BORDER="0"> 5 years (Kaplan-Meier and Cox multivariate analysis);Control:171 organ donors										
116326	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis	3	3q21-q25	AGTR1	149898347	149943480		Berdeli, A.  et al. 2005	15563875				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Turkish	Turkey	CDC GDPinfo	185	Hs.477887			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):87-94	Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population.		106165	24010	2	2005	 This study indicates a synergistic contribution of RAS genes (ACE I/D, AGT T/M, AT1R T/C) and eNOS Glu298Asp polymorphisms to the development of the premature CAD.	Case:115 Turkish patients with premature coronary artery:disease;Control:83:controls										
116321		kidney failure, chronic	RENAL	REN	Kidney Failure, Acute|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Fabris, B.  et al. 2005	15662219				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Italy	CDC GDPinfo	185	Hs.477887			Journal of hypertension. 2005 Feb;23(2):309-16	Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.		106165	24005	2	2005	 Our findings suggest that in patients with essential hypertension an unfavorable genetic pattern of RAAS may contribute to the increased risk for the development of renal failure.	Control:172 hypertensive patients without renal insufficiency matched for age and hypertension duration to within 2 years;Case:86 hypertensive patients with renal insufficiency										
116322	N	renal allograft function	UNKNOWN	UNK	Disease Progression	3	3q21-q25	AGTR1	149898347	149943480		Nicod, J.  et al. 2002	11923700				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation. 2002 Mar;73(6):960-5	Recipient RAS gene variants and renal allograft function.		106165	24006	2	2002	 The rate of decline in renal allograft function is strongly associated with the CYP11B2 but not AGT, ACE, or AGT1R genotypes. This finding suggests that certain genetic factors related to the RAS are important determinants of long-term renal allograft function.	Cohort 223 first-allograft recipients 										
116323		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Poch, E.  et al. 2001	11711524				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		106165	24007	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
116318		blood pressure, arterial; atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Kikuya, M.  et al. 2003	12627873				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Japanese	Japan	CDC GDPinfo	185	Hs.477887			Hypertension research. 2003 Feb;26(2):141-5	A/C1166 gene polymorphism of the angiotensin II type 1 receptor (AT1) and ambulatory blood pressure: the Ohasama Study.		106165	24002	2	2003	These results indicated that AT1 A/C1166 polymorphism was not associated with any clinical parameters associated with hypertension or atherosclerosis in the Japanese population.	Cohort 802 Japanese subjects aged 40 and over from the Ohasama Study 										
116319		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Disease Progression	3	3q21-q25	AGTR1	149898347	149943480		Coll, E.  et al. 2003	12832734				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of nephrology. 2003 May-Jun;16(3):357-64	Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency.		106165	24003	2	2003	 These results indicate that susceptibility to faster progression to ESRD is associated with the AT1R A1166C polymorphism. This association remains significant after adjustment for relevant covariates, highlighting the importance of analyzing genetic risk factors in the context of clinical and biochemical variables.	Cohort 104 end-stage renal disease patients 										
116320		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Castellano, M.  et al. 2003	14508191				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Italian	Italy	CDC GDPinfo	185	Hs.477887			Journal of hypertension. 2003 Oct;21(10):1853-60	Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPERProject.		106165	24004	2	2003	 Our results suggest that some allelic variants of RAAS genes carry a small but identifiable risk of developing arterial hypertension.	Case:1850 hypertensive subjects:Italy;Control:611 normotensive subjects										
116315	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Nalogowska-Glo&sacute;nicka, K.  et al. 2000	11208365				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Poland	CDC GDPinfo	185	Hs.477887			Medical science monitor. 2000 May-Jun;6(3):523-9	Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension		106165	23999	2	2000	 On the basis of the results of our study, we may suggest that AGTR1 gene A1166C polymorphism may predispose women to the development of PIH. It seems that ACE gene I/D and Pst1 RFLP polymorphism, AGT gene M235T polymorphism, and finally chymase gene CMA/B polymorphism do not play any significant role in the pathogenesis of PIH in Caucasian women.	Case:126 women suffering from PIH;Control:150 healthy pregnant women	pregnancy									
116316		aortic stiffness	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Lajemi, M.  et al. 2001	11288810				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of hypertension. 2001 Mar;19(3):407-13	Angiotensin II type 1 receptor-153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects		106165	24000	2	2001	 AT1 receptor genotypes could influence arterial ageing in hypertensive subjects. These results also show that the association between genotypes and arterial stiffness may manifest itself later in life.	Cohort 441 18-74 year old untreated hypertensive subjects European origin 										
116317		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Kurland, L.  et al. 2002	11910301				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Sweden	CDC GDPinfo	185	Hs.477887			Journal of hypertension. 2002 Apr;20(4):657-63	Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from theSwedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (		106165	24001	2	2002	The angiotensinogen T174M and M235T and the AT1-receptor A1166C polymorphisms were related to the change in LVH during antihypertensive treatment with an AT1-receptor antagonist; of these angiotensinogen T174M was the most powerful. This highlights the role of the RAAS for left ventricular hypertrophy and the potential of pharmacogenetics as a tool for guidance of antihypertensive therapy.	Cohort Patients with essential hypertension and echocardiographically diagnosed LVH 	atenolol irbesartan									
116312		kidney transplant	IMMUNE	IMM		3	3q21-q25	AGTR1	149898347	149943480		Akcay, A.  et al. 2004	15385810				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation. 2004 Sep;78(6):892-8	Association of the genetic polymorphisms of the renin-angiotensin system and endothelial nitric oxide synthase with chronic renal transplant dysfunction.		106165	23996	2	2004	 These findings suggest that the DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD.	Cohort 125 patients who underwent renal transplantation during a 5-year period 										
116313		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	3	3q21-q25	AGTR1	149898347	149943480		Pallaud, C.  et al. 2001	11341749				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		France|Italy	CDC GDPinfo	185	Hs.477887			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		106165	23997	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
116314		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Shlyakhto, E. V.  et al. 2001	11688760				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Russia	CDC GDPinfo	185	Hs.477887			Blood pressure. 2001 ;10(3):135-41	Lack of association of the renin-angiotensin system genes polymorphisms and left ventricular hypertrophy in hypertension		106165	23998	2	2001	 In the light of these observations it seems reasonable to make a preliminary conclusion about lack of association between LVH and distinct polymorphisms of renin-angiotensin system genes in the population studied.	Cohort 156 patients (the mean age 49+/-8 years) with mild-to-moderate EH recruited from the general population of the outpatient clinic 										
116310		cysclosporine toxicity	PHARMACOGENOMIC	PHARM		3	3q21-q25	AGTR1	149898347	149943480		Ozdemir, F. N.  et al. 2004	15013322				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation proceedings. 2004 Jan-Feb;36(1):128-30	The renin-angiotensin system and endothelial nitric oxide synthase gene polymorphisms and cyclosporine toxicity in renal transplant patients.		106165	23994	2	2004	We could not find any relation between cyclosporine toxicity and gene polymorphisms (P >.05), although the mean mg/kg/d dose was significantly high among cyclosporine toxicity group (P =.028, RR = 1.42). In recent studies angiotensin II and nitric oxide have been suggested to be related to cyclosporine toxicity; however, our results failed to reveal an association between cyclosporine toxicity and angiotensin II or nitric oxide-related gene polymorphisms.	Cohort 111 renal transplant patients 										
116311		posttransplantation erythrocytosis	OTHER	OTH	Polycythemia|Postoperative Complications	3	3q21-q25	AGTR1	149898347	149943480		Micozkadioglu, H.  et al. 2004	15013333				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation proceedings. 2004 Jan-Feb;36(1):161-3	Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.		106165	23995	2	2004	While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.	Cohort 96 renal transplant patients 										
116306		kidney disease	RENAL	REN	Urinary Tract Infections|Kidney Diseases|Kidney Failure, Chronic|Vesico-Ureteral Reflux	3	3q21-q25	AGTR1	149898347	149943480		Pardo, R.  et al. 2003	12579398				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Pediatric nephrology (Berlin, Germany). 2003 Feb;18(2):110-4	Renin-angiotensin system polymorphisms and renal scarring		106165	23990	2	2003	We conclude that  genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR.	Control:40 patients with urinary tract infection and normal findings on renal ultrasonography and voiding:cystoureterogram;Case:69/110/27 patients with vesicoureteral reflux (n=69), reflux nephropathy (n=110) and chronic renal failure:(n=27)										
116307		graft-versus-host disease	IMMUNE	IMM	Kidney Neoplasms	3	3q21-q25	AGTR1	149898347	149943480		Akcay, A.  et al. 2004	15013293				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation proceedings. 2004 Jan-Feb;36(1):35-7	Angiotensin-converting enzyme genotype is a predictive factor in the peak panel-reactive antibody response.		106165	23991	2	2004	This study suggests that genetic control of RAS activity correlates with production of anti-HLA antibodies, possibly explaining the relationship to chronic allograft outcome.	Cohort 133 dialysis patients 										
116308		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	3	3q21-q25	AGTR1	149898347	149943480		Hashizume, K.  et al. 2005	15914614				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Japanese	Japan	CDC GDPinfo	185	Hs.477887			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		106165	23992	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
116303		coronary artery thrombosis	CARDIOVASCULAR	CARD	Coronary Thrombosis	3	3q21-q25	AGTR1	149898347	149943480		Zhu, T. N.  et al. 2004	15498133				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Oct;12(5):674-9	[Gene polymorphisms of rennin-Angiotensin system and coronary artery thrombosis disease.]		106165	23987	2	2004	Although these three polymorphisms were not independent risk factors for CATD or myocardial infarction (MI) in Chinese, AT1R-AC genotype has a significant synergistic effect with AGT-TT genotype. There is also a obvious interaction between AT1R-AC genotype and ACE D allele.	Control:110:controls;Case:192 coronary artery thrombosis disease cases										
116304		glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	3	3q21-q25	AGTR1	149898347	149943480		Buraczynska, M.  et al. 2001	11865575				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Polish		CDC GDPinfo	185	Hs.477887			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106165	23988	2	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
116305		nephropathy, diabetic; blood pressure, arterial; proteinuria	RENAL	REN	Kidney Diseases|Glomerulonephritis|Proteinuria|Chronic Disease	3	3q21-q25	AGTR1	149898347	149943480		Coto, E.  et al. 2005	16231503				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Nefrologia. 2005 ;25(4):381-6	[Pharmacogenetics of angiotensin system in non diabetic nephropathy]		106165	23989	2	2005	 Our data show that the effects of losartan and amlodipine on the absolute mean reduction of blood pressure and proteinuria in non-diabetic nephropathy patients are similar between the different ACE or AGT genotypes. Although based on a small number of patients, the AGTR1-AA genotype was associated with a significantly higher reduction in diastolic blood pressure among losartan-treated patients. Additional studies are necessary to refute or confirm this association.		amlodipine losartan									
116300		hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Li, X.  et al. 2001	11484170				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106165	23984	2	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
116301	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Giner, V.  et al. 2001	11707217				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Spanish	Spain	CDC GDPinfo	185	Hs.477887			Med Clin (Barc). 2001 Nov;117(14):525-9	[Renin-angiotensin system genetic polymorphisms and essential hypertension in the Spanish population]		106165	23985	2	2001	 We found no association between essential hypertension risk and I/D ACE gene, M235T and A-6G angiotensinogen gene, or A1166C angiotensin II type 1 receptor gene polymorphisms. An epistatic effect was observed in young women between angiotensin II type 1 receptor polymorphisms and angiotensinogen polymorphisms.	Case:185 essential hypertensive subjects(age [SD] 39.6 [7.5]:years;Control:350 sex- and age-matched normotensive individuals selected from a sample of the general population:Valenciana, Spain										
116302		nephropathy in other diseases	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Buraczynska, M.  et al. 2002	12476891				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Pol Arch Med Wewn. 2002 Aug;108(2):725-30	[Association of the renin-angiotensin system gene polymorphism with nephropathy in type II diabetes]		106165	23986	2	2002	These results suggest increased susceptibility to diabetic nephropathy in individuals carrying the CC genotype. Therefore, the A1166C polymorphism of the AT1R gene could be a potential genetic marker for increased susceptibility to renal complications in type 2 diabetes.	Case:117 patients with diabetic nephropathy;Control:200 healthy subjects										
116297		atherosclerosis, coronary	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Ortlepp, J. R.  et al. 2002	12446192				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		106165	20399	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
116298	Y	cardiac death; cardiac morbidity	CARDIOVASCULAR	CARD	Coronary Artery Disease	3	3q21-q25	AGTR1	149898347	149943480		Volzke, H.  et al. 2005	15676177				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			International journal of cardiology. 2005 Jan;98(1):133-9	Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery		106165	20400	2	2005	 We conclude that there are interactions between the angiotensin II type 1 receptor 1166 A/C as well as the angiotensinogen 235 M/T gene polymorphism and age with respect to the outcome after coronary artery bypass graft surgery. The glycoprotein IIIa PlA1/PlA2 and the factor V Leiden 1691 G/A gene polymorphisms were not associated with mid-term mortality or cardiac morbidity after coronary artery bypass grafting.	Cohort 247 coronary artery bypass graft surgery patients 										
116299		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	3	3q21-q25	AGTR1	149898347	149943480		Azurmendi, P.  et al. 2004	15628301				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Medicina. 2004 ;64(2):139-42	[Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]		106165	20401	2	2004	AT1 1166CC and ecNOS 298Asp/Asp are associated with earlier A2 and A6 whereas AGT 235TT induce twofold increase in GFRd, suggesting that RAS and ecNOS are involved in ADPKD progression.	Cohort 88 autosomic dominant polycystic kidney disease patients 										
116294		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Coronary Artery Disease	3	3q21-q25	AGTR1	149898347	149943480		Nakai, K.  et al. 2004	15193960				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Israel	CDC GDPinfo	185	Hs.477887			Life sciences. 2004 Jul;75(8):1003-10	Ethnic differences of coronary artery disease-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry.		106165	20396	2	2004	We demonstrated an ethnic difference of CAD-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry. Further study is necessary to prove causal relation with CAD-associated SNPs and the prevalence of CAD.	Cohort 94 Israeli healthy populations (47 Ashkenazi Jews and 47 Yemenite Jews) obtained from the National Laboratory for the Genetics of Israeli Populations 										
116295		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	3	3q21-q25	AGTR1	149898347	149943480		Pallaud, C.  et al. 2001	11359462				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		106165	20397	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
116296		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	3	3q21-q25	AGTR1	149898347	149943480		Pallaud, C.  et al. 2001	11575217				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	French		CDC GDPinfo	185	Hs.477887			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		106165	20398	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
116291		diabetes, type 2; hypertension	METABOLIC	MET	Hypertrophy, Left Ventricular|Hypertension|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480			15332573				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Ter Arkh. 2004 ;76(6):30-5	[Polymorphic markers of GNB3 (C825T), AGTR1 (A1166C) and ACE (A2350G and I/D) genes in patients with arterial hypertension combined with diabetes mellitus type 2]		106165	20393	2	2004	 Polymorphic markers of ACE and GNB3 candidate genes influence clinical diversity of pathological signs in DM2 patients through modification of AH and LVH severity and the level of proinflammatory cytokines.	Cohort 89 hypertensive patients with type 2 diabetes 										
116292		restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Diabetes Complications	3	3q21-q25	AGTR1	149898347	149943480		Roguin, A.  et al. 2002	11909563				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			The American journal of cardiology. 2002 Apr;89(7):806-10	Haptoglobin phenotype and the risk of restenosis after coronary artery stent implantation.		106165	20394	2	2002	Thus, knowledge of the haptoglobin phenotype may be useful in assessing and utilizing new therapies that attempt to reduce restenosis, and may have important implications for the risk stratification algorithm used in managing diabetic patients with coronary artery disease.	Cohort 214 consecutive patients undergoing stent implantation for de novo lesions Aalst, Belgium 1998-1999 										
116293		plasminogen activator inhibitor-1	METABOLIC	MET	Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480		Prisco, D.  et al. 2000	11289708				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			International journal of clinical & laboratory research. 2000 ;30(4):179-85	Angiotensin converting enzyme DD genotype affects the changes of plasma plasminogen activator inhibitor-1 activity after primary percutaneous transluminal coronary angioplasty in acute myocardial infarction patients.		106165	20395	2	2000	these data suggest that renin-angiotensin system genes are involved in the regulation of the fibrinolytic response to balloon injury, possibly affecting angiotensin converting enzyme activity. This interaction between the renin-angiotensin system and hemostasis may be a mechanism by which ACE DD genotype affects the risk of restenosis after percutaneous transluminal angioplasty.	Cohort 29 consecutive acute myocardial infarction patients 										
116288		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Ortlepp, J. rR.  et al. 2001	11696688				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Coronary artery disease. 2001 Sep;12(6):493-7	A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts		106165	20390	2	2001	 The CMA allele G is a genetic risk factor for atherosclerosis in venous coronary artery bypass grafts. Its importance has to be shown in further studies. Other polymorphisms of the renin-angiotensin-aldosterone system do not seem to play a role in bypass degeneration.	Cohort 101 patients who had follow-up coronary angiography due to symptoms 88 +/- 52 months after coronary artery bypass graft surgery 										
116289		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	3	3q21-q25	AGTR1	149898347	149943480		French, J. K.  et al. 2003	12514663				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		106165	20391	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
116290	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Henderson, S. O.  et al. 2004	15545843				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	African American		CDC GDPinfo	185	Hs.477887			The American journal of the medical sciences. 2004 Nov;328(5):266-73	Multiple Polymorphisms in the renin- angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort.		106165	20392	2	2004	 These data suggest that the (-535)T allele of AGTR1 and (-344)T allele of CYP11B2 may increase hypertension risk among African Americans but not among Latinos. Characterization of the linkage disequilibrium and haplotype patterns in the RAAS pathway genes will be crucial to understanding differences in hypertension susceptibility in these ethnic populations.	Cohort African American and Latino members of the Multiethnic Cohort Study 										
116285		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480			15612584				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Molekuliarnaia biologiia. 2004 Nov-Dec;38(6):990-6	[ACE and AGTR1 genes polymorphisms in left ventricular hypertrophy pathogenesis in humans]		106165	20387	2	2004	Thus the presence of 1166C allele of AGTR1 and 2350G allele of ACE can be considered as predisposing factors for LVH development in EH. In contrast, association of studied polymorphisms with presence or LVH degree was not detected in patients with arterial hypertension combined with DM2. This may indicate another structure of genetic component of predisposition to LVH in different causes.	Control healthy individuals;Case patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2)										
116286		vesicoureteral reflux	UNKNOWN	UNK	Vesico-Ureteral Reflux	3	3q21-q25	AGTR1	149898347	149943480		Yim, H. E.  et al. 2004	14764974				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Korean		CDC GDPinfo	185	Hs.477887			American journal of nephrology. 2004 Mar-Apr;24(2):178-87	Genetic polymorphism of the renin-angiotensin system on the development of primary vesicoureteral reflux.		106165	20388	2	2004	 These findings indicate that a lower incidence of AT2 A-1332G transition is seen in primary VUR patients, at least in the Korean population. Also, in the case of combination of ACE and AT2 gene, the combination of ACE II genotype and AT2 A-1332G transition occurs infrequently in primary VUR.	Control:58 controls with no urological abnormalties;Case:67 primary vesicoureteral reflux patients										
116287		cough	OTHER	OTH	Cough|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Mukae, S.  et al. 2002	12522467				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Japan	CDC GDPinfo	185	Hs.477887			Journal of human hypertension. 2002 Dec;16(12):857-63	Association of polymorphisms of the renin-angiotensin system and bradykinin B2 receptor with ACE-inhibitor-related cough		106165	20389	2	2002	In conclusion, Susceptibility to develop cough is associated with a genetic variant of the bradykinin B2 receptor promoter; thus, it may be possible to identify those patients who will develop this adverse reaction to ACE inhibitors in advance.	Control:120 Japanese hypertensive patients without cough;Case:70 Japanese hypertensive patients with cough										
116282		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Zhang, X.  et al. 2001	11774217				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese	China	CDC GDPinfo	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6):462-6	[Association between renin-angiotensin system gene polymorphism and type 2 diabetics with stroke in China]		106165	20384	2	2001	 It is suggested that ACE gene I/D polymorphism is a susceptible gene for stroke in DM2 patients in China. AT1R gene A1166C polymorphism contributes to the development of stroke in DM2 patients, but it is not an independent risk factor. There is synergistic effect of AT1R A1166C and ACE I/D gene polymorphisms on the occurrence and development of stroke in type 2 diabetics in China.	Cohort 152 cases of type 2 diabetes 										
116283		cholesterol; triglycerides; hypertension; blood pressure, arterial; potassium; urea	METABOLIC	MET	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Box012D;tsov, S. A.  et al. 2003	12891302				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Kardiologiia. 2003 ;43(7):65-9	[Characteristics of hemodynamics and metabolism and structural polymorphisms of angiotensin converting enzyme and angiotensin II type I receptors genes in women of childbearing]		106165	20385	2	2003	Presence of DD genotype of ACE gene in women was related to parameters of both hemodynamics and metabolism, whereas that of II genotype of ACE gene as well as AA and AC genotypes of ATR(1) gene were linked with parameters of hemodynamics.	Cohort women of childbearing age and men of the same age, both with first degree hypertension 										
116284		cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction	3	3q21-q25	AGTR1	149898347	149943480		Yuan, X. D.  et al. 2003	14521778				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Zhonghua liu xing bing xue za zhi. 2003 Sep;24(9):822-6	[A cross-sectional study on angiotensin-converting enzyme and angiotensin II type I receptor gene polymorphism and cerebral infarction]		106165	20386	2	2003	 The prevalence of cerebral infarction obviously increased in the hypertensive groups having AA genotype of ATIR gene. In the cerebral infarction groups, the level of IL-6 was higher than that in the normal population, indicating that these can be resulted from local inflammation and immunity reactivity. Environmental and genetic factors in the pathogenesis of cerebral infarction might have coordinating functions.	Control controls from Tangshan coalmine;Case cerebral infarction individuals from 1,351subjects from Tangshan coalmine	blood pressure smoking (tobacco)									
116279		myocardial infarct; cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Jones, A.  et al. 2003	12925562				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2003 Oct;42(4):500-6	Genetic Variants of Angiotensin II Receptors and Cardiovascular Risk in Hypertension		106165	15134	2	2003	This is the first study to demonstrate an association of AT2R genotype with coronary risk, an effect that was confined to hypertensive subjects and supports the concept that the inducible AT2R is protective. Conversely, the AT1R1166CC genotype was associated with cardiovascular risk irrespective of blood pressure. These data are important to our understanding of the divergent role of angiotensin II acting at its receptor subtypes and coronary disease pathogenesis and for the development of future cardiovascular therapies.	Cohort 2,579 healthy UK men (mean age, 56.1+/-3.5 years; median follow-up, 10.1 years) 										
116280		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	3	3q21-q25	AGTR1	149898347	149943480		Plummer, S.  et al. 2004	15221785				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Human mutation. 2004 Jul;24(1):14-20	Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia.		106165	15135	2	2004	no conclusion in abstract	Control normotensive pregnant women;Case preeclamptic pregnant women										
116281		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480		Aoki, S.  et al. 2001	11324803				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Japanese heart journal. 2001 Jan;42(1):15-28	Genetic background in patients with acute myocardial infarction.		106165	15413	2	2001	These polymorphisms were found to be involved in the development of acute myocardial infarction, particularly in the younger patients, and it was concluded that the incidence of acute myocardial infarction might be reduced by management from the genotypes.	Case:150 patients with acute myocardial infarction:Japan;Control:150 healthy ate- and sex-matched controls:Japan										
116277	Y	heart rate	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Stolarz, K.  et al. 2004	15238568				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Hypertension. 2004 Aug;44(2):156-62	Genetic variation in CYP11B2 and AT1R influences heart rate variability conditional on sodium excretion.		106165	15129	2	2004	Thus, CYP11B2 C-344T and AT1R A1166C polymorphisms affect the autonomic modulation of heart rate, but these genetic effects depend on sodium excretion.	Cohort 320 unrelated subjects 										
116278		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	3	3q21-q25	AGTR1	149898347	149943480		Seremak-Mrozikiewicz, A.  et al. 2005	16076618				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			The journal of maternal-fetal & neonatal medicine. 2005 Feb;17(2):117-21	1166C mutation of angiotensin II type 1 receptor gene is correlated with umbilical blood flow velocimetry in women with preeclampsia.		106165	15130	2	2005	 Observed overrepresentation of mutated C allele of the AT1 gene was correlated with increased blood flow in umbilical artery in women with preeclampsia. Doppler velocimetry might be a useful tool for indication in the high-risk group with overrepresentation of C alleles.											
116273	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Buchholz, T.  et al. 2004	15212666				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			American journal of reproductive immunology (New York, NY :  1989). 2004 May;51(5):323-8	Vasoconstrictively acting AT1R A1166C and NOS3 4/5 polymorphisms in recurrent spontaneous abortions (RSA).		106165	12836	2	2004	 Results do not show any influence of the polymorphisms studied on early pregnancy development. This is in concordance with the concept of an independent regulation of placental perfusion.	Case recurrent spontanous abortion cases;Control:controls										
116274	Y	kidney transplant	IMMUNE	IMM	Inflammation	3	3q21-q25	AGTR1	149898347	149943480		Sezer, S.  et al. 2005	15848528				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Transplantation proceedings. 2005 Mar;37(2):776-8	Endothelial nitric oxide synthase and angiotensin II type 1 receptor gene polymorphisms can influence chronic inflammatory state in renal transplant patients.		106165	12874	2	2005	 The presence of the bb allele of the eNOS and non-AA allele of ATR1 1166 gene is associated with an anti-inflammatory state and may predict renal outcome in transplant patients.	Cohort 80/35 male (n=80) and female (n=35) renal transplant patients 										
116275	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Hu, Y.  et al. 2000	11775887	A1166-->C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Zhonghua fu chan ke za zhi. 2000 Mar;35(3):136-8	[The association between A1166-->C of angiotensin II type 1 receptor gene and pregnancy induced hypertension]		106165	15127	2	2000	 1. The variants(A-->C) of 1166 polymorphism site of AT1RG predisposes increased risk of PIH. 2. The PIH patients are at the risk of suffering from essential hypertension.	Case pregnancy induced subjects;Control essential hypertensive subjects;Control normal controls										
116270		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480			16398146				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Ukrainian	Ukraine	CDC GDPinfo	185	Hs.477887			Tsitol Genet. 2005 Sep-Oct;39(5):51-5	[Polymorphism of the angiotensin II type 1 receptor in patients with essential hypertension in Ukrainian population]		106165	8565	2	2005												
116271	N	blood pressure; aldosterone; glomerular filtration rate; renal plasma flow	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Delles, C.  et al. 2000	11081769				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of hypertension. 2000 Nov;18(11):1573-8	Lack of association between polymorphisms of angiotensin II receptor genes and response to short-term angiotensin II infusion.		106165	8566	2	2000	 The response to angiotensin II infusion does not differ across the the AT1- and AT2-receptor genotypes examined in our study. However, long-term effects of variants of angiotensin II receptor genes cannot be ruled out with this approach.	Cohort 120 male, white, young (26 +/- 3 years) subjects with normal or mildly elevated blood pressure 	angiotensin II infusion									
116272	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Pamies-Andreu, E.  et al. 2003	12624609				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Journal of human hypertension. 2003 Mar;17(3):187-91	Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.		106165	10850	2	2003	Although there is no association between salt sensitivity and the different studied genotypes of the RAAS and of the GNB3, our data show a greater risk for salt sensitivity among carriers of the W allele of the CYP11B2 1C polymorphism.	Cohort 102 essential hypertensive patients 										
116267		hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Liu, Y.  et al. 2003	12778448				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):220-4	[A1166C polymorphism of the angiotensin II type 1 receptor gene and essential hypertension in Han, Tibetan and Yi populations]		106165	8562	2	2003	 The A1166 allele is very common in Han, Tibetan and Yi populations, approximately 1.35-fold more common than in Caucasians. The A1166 allele of the AT(1)R gene may be a predisposing factor for essential hypertension in Tibetan males. A1166C polymorphism of the AT(1)R gene is probably not involved in the pathogenesis of essential hypertension in Han and Yi populations.	Control:302 Han, Tibetan and Yi normotensive subjects;Case:446 Han, Tibetan and Yi hypertensive subjects:China										
116268		cholesterol; triglycerides; hypertension; glucose tolerance	METABOLIC	MET	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Lu, Q. S.  et al. 2005	16152821	A1166-->C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Zhongguo Zhong xi yi jie he za zhi Zhongguo Zhongxiyi jiehe zazhi. 2005 Aug;25(8):682-6	[Relationship of the A1166C polymorphism of ATI R gene with TCM syndrome and efficacy of Chinese hypotensor in patients with essential hypertension]		106165	8563	2	2005	 A1166C gene type is related to EH in the Chinese, C allele might a susceptible gene to hypertension, while TCM syndrome type of EH patients might not be related to whether C allele was borne. The hypotensive effect of QC or captopril was not related to whether C1166 allele was borne. No significant difference of blood pressure, blood glucose, blood lipid, plasma Ang II, ET, or CGRP in patients with different gene types, which suggested the effect of gene types on hypertension might not be by path of glucose or lipid metabolism, ET, CGRP or plasma Ang II system.		captopril Qingxin Capsule									
116269		atherosclerosis, coronary; hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Zhang, K. X.  et al. 2005	16188060				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		CDC GDPinfo	185	Hs.477887			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Aug;33(8):720-3	[Association of angiotensin II receptor type 1 gene single nucleotide polymorphism with Chinese essential hypertension complicated with coronary heart disease]		106165	8564	2	2005	 A polymorphism in the promoter region (A-153G) of AT1 gene might be involved in the development of EH and CHD in Han ethnicity population in east China.											
116264	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	3	3q21-q25	AGTR1	149898347	149943480		Hernandez Ortega, E.  et al. 2002	11852019				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Rev Esp Cardiol. 2002 Feb;55(2):92-9	[The involvement of the renin-angiotensin system gene polymorphisms in coronary heart disease]		106165	8559	2	2002	 Our results provide no evidence of an association between ACE (I/D) or AT1 receptor polymorphism and coronary heart disease. However, homozygosity for the T allele of the angiotensinogen gene, diabetes and hypertension independently place individuals at higher risk of experiencing a coronary event on Grand Canary Island.	Case:304 Case subjects recruited at the first coronary event Grand Canary Island;Control:315 age-matched controls										
116265		cerebral infarction	CARDIOVASCULAR	CARD	Brain Infarction|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Zhong, Y.  et al. 2002	12048678				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):201-4	[Influence of angiotensin II type 1 receptor gene polymorphism on patients with essential hypertension complicated by brain infarction]		106165	8560	2	2002	 AT1R gene contributes to the development of essential hypertensive, but not to the incidence of BI in the hypertensive.	Control:70 normotensive subjects;Case:72/70 hypertensive patients without cardio-cerebrovascular diseases (n=72) and hypertensive patients with brain infarction (n=70)										
116266		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	3	3q21-q25	AGTR1	149898347	149943480		Peng, J.  et al. 2002	12133518				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Zhonghua yi xue za zhi. 2002 Apr;82(7):471-3	[Association between early-onset coronary heart disease and angiotensin II type 1 receptor gene polymorphism]		106165	8561	2	2002	 There is no association between between ATIR gene A1166/C polymorphism and occurrence of early-onset CHD. ATIR geng A1166/C polymorphism has no effect on plasma lipid levels.	Control:119:controls;Case:76 late-onset CHD patients										
116261	Y	anthropometric and metabolic traits, relative to cardiovascular risk	METABOLIC	MET	Metabolic Diseases|Syndrome	3	3q21-q25	AGTR1	149898347	149943480	0.001	Abdollahi MR et al. (2005)	15863668	A1166C		3'untranslated	Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Caucasian: British	Great Britain	M Reza Abdollahi	185	Hs.477887	BMI, Waist to Hip Ratio, Adult Weight, Glucose at 30 min, Waist Circumference		Journal of medical genetics. 2005 May;42(5):396-40	Angiotensin II type I receptor gene polymorphism: anthropometric and metabolic syndrome traits		106165	453	1	2005	 The AGTR1 1166 CC genotype appears to predispose to favourable anthropometric and metabolic traits, relative to cardiovascular risk.											
116262	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Qiu, C.  et al. 2000	11110972	A1166-->C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Tibet	CDC GDPinfo	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):381-5	[Analyses on the association of CA-repeat polymorphism and A1166-->C variant in the 3'-flanking region of AT(1)R gene with essential hypertension in Tibetans]		106165	8557	2	2000	 The result suggests that CA-repeat polymorphism of AT(1)R gene be in association with EH in Tibetans, which implicates that AT(1)R gene may be in linkage disequilibrium with the causative genes of EH.	Case:113 Tibetan essential hypertension cases:Tibet;Control:131 norotensive controls										
116263	Y	nephropathy, diabetic	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Xue, Y.  et al. 2001	11798574				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDPinfo	185	Hs.477887			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Mar;40(3):173-5	[Association between angiotensin-II receptor gene type I polymorphism and diabetic nephropathy in type 2 diabetes mellitus]		106165	8558	2	2001	 Delete polymorphism of A1166-C gene is associated with DN in type 2 diabetes mellitus. It is suggested that detection of significant AGTIR-A1166-C polymorphism is of help for preventing DN in type 2 diabetes mellitus.	Case:153 patients (67 with microalbuminuria, 66 with clinical albuminuria and 20 type 2 DM patients with renal insufficiency;Control:86 patients without diabetic nephropathy										
116258		hypertension and ESRD	CARDIOVASCULAR	CARD	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Hypertension|Disease Progression	3	3q21-q25	AGTR1	149898347	149943480		Lee KB 2003	12950120				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Yonsei medical journal. 2003 Aug;44(4):641-7	Angiotensinogen and angiotensin II type 1 receptor gene polymorphism in patients with autosomal dominant polycystic kidney disease: effect on hypertension and ESRD.		106165	450	1	2003												
116259	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Xue Y 2001	11798574				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			Y Wang	185	Hs.477887	Complications		Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Mar;40(3):173-5	Association between angiotensin-II receptor gene type I polymorphism and diabetic nephropathy in type 2 diabetes mellitus		106165	451	1	2001	 Delete polymorphism of A1166-C gene is associated with DN in type 2 diabetes mellitus. It is suggested that detection of significant AGTIR-A1166-C polymorphism is of help for preventing DN in type 2 diabetes mellitus.	Case:153 patients (67 with microalbuminuria, 66 with clinical albuminuria and 20 type 2 DM patients with renal insufficiency;Control:86 patients without diabetic nephropathy										
116260		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Lesage S 1997	9218178				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Caucasian		Y Wang	185	Hs.477887	Complications		Journal of hypertension. 1997 Jun;15(6):601-6	Genetic studies of the renin-angiotensin system in arterial hypertension associated with non-insulin-dependent diabetes mellitus.		106165	452	1	1997	 These results suggest that the AGT and AT1 receptor genes are not major genetic determinants of hypertension associated with NIDDM in this population, although we can not exclude the possibility that these loci make a minor contribution in a polygenic context.											
116255	Y	increased vascular reactivity	CARDIOVASCULAR	CARD	Cardiovascular Diseases	3	3q21-q25	AGTR1	149898347	149943480		Henrion D et al. 1998	9789116				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Journal of vascular research. 1998 Sep-Oct;35(5):356-62	Angiotensin II type 1 receptor gene polymorphism is associated with an increased vascular reactivity in the human mammary artery in vitro.		106165	447	1	1998												
116256	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480	n	Hirashiki A 2003	14563588	535C3T			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Japanese	Japan	KGB	185	Hs.477887			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		106165	448	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
116257		coronary atherosclerosis.	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis	3	3q21-q25	AGTR1	149898347	149943480		Ye S 2003	12975417				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Heart (British Cardiac Society). 2003 Oct;89(10):1195-9	Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis.		106165	449	1	2003	 These findings suggest that variation in the ACE and AGTR1 genes and their interaction may not only contribute to susceptibility of coronary artery disease as previously found but also modify the disease process, thus contributing to interindividual differences in severity of the disease.											
116251	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Liu Y 1999	11593574				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		China	TJB	185	Hs.477887			Chinese medical journal. 1999 Feb;112(2):115-20			106165	443	1	1999	 D allele of ACE gene might correlate with a predisposing factor for EH. The microsatellite allele of AT1R gene might be linkage disequilibrium with an unidentified variant that contributes to the development of EH. A-20C of AGT gene is not a major genetic determinant of EH.	Case:169; Control:152										
116252	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480	n	Tiret L 2000	10636255	A- 153G and A+39C polymorphisms			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			106165	444	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
116253	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	3	3q21-q25	AGTR1	149898347	149943480		Surber R et al. 2000	11076048				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Clinical genetics. 2000 Sep;58(3):237-8	Angiotensin II type 1 receptor gene polymorphism is associated with the severity but not prevalence of coronary artery disease.		106165	445	1	2000												
116247	Y	hypertension	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Hu Y et al. 2000	11775887				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Zhonghua fu chan ke za zhi. 2000 Mar;35(3):136-8	The association between A1166-->C of angiotensin II type 1 receptor gene and pregnancy induced hypertension		106165	439	1	2000	 1. The variants(A-->C) of 1166 polymorphism site of AT1RG predisposes increased risk of PIH. 2. The PIH patients are at the risk of suffering from essential hypertension.	Case pregnancy induced subjects;Control essential hypertensive subjects;Control normal controls										
116248	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Szombathy T et al. 1998	9498106				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Clinica chimica acta; international journal of clinical chemistry. 1998 Jan;269(1):91-100	Association of angiotensin II type 1 receptor polymorphism with resistant essential hypertension.		106165	440	1	1998												
116249	Y	hypertension	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Nalogowska-Glosnicka K et al. 2000	11208365				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3		Poland	KGB	185	Hs.477887			Medical science monitor. 2000 May-Jun;6(3):523-9	Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension.		106165	441	1	2000	 On the basis of the results of our study, we may suggest that AGTR1 gene A1166C polymorphism may predispose women to the development of PIH. It seems that ACE gene I/D and Pst1 RFLP polymorphism, AGT gene M235T polymorphism, and finally chymase gene CMA/B polymorphism do not play any significant role in the pathogenesis of PIH in Caucasian women.	Case:126 women suffering from PIH;Control:150 healthy pregnant women	pregnancy									
116243	Y	coronary artery vasoconstriction.	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Amant C et al. 1997	9060882				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Journal of the American College of Cardiology. 1997 Mar;29(3):486-90	The angiotensin II type 1 receptor gene polymorphism is associated with coronary artery vasoconstriction.		106165	435	1	1997	 The AT1 receptor gene polymorphism is associated with coronary vasomotion in humans.											
116246	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	3	3q21-q25	AGTR1	149898347	149943480		Peng J et al. 2002	12133518				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Zhonghua yi xue za zhi. 2002 Apr;82(7):471-3	Association between early-onset coronary heart disease and angiotensin II type 1 receptor gene polymorphism		106165	438	1	2002	 There is no association between between ATIR gene A1166/C polymorphism and occurrence of early-onset CHD. ATIR geng A1166/C polymorphism has no effect on plasma lipid levels.	Control:119:controls;Case:76 late-onset CHD patients										
116239	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Jiang Z et al. 2001	11793845				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Chinese medical journal. 2001 Dec;114(12):1249-51	Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension.		106165	431	1	2001	 The AC genotype is associated with essential hypertension, and the C allele may be a marker for predisposition to hypertension in Chinese Han population.											
116241	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		van Geel PP et al. 2000	10720584				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Hypertension. 2000 Mar;35(3):717-21	Angiotensin II type 1 receptor A1166C gene polymorphism is associated with an increased response to angiotensin II in human arteries.		106165	433	1	2000												
116242	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Takami S et al. 1998	9544872				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			American journal of hypertension. 1998 Mar;11(3 Pt 1):316-21	Angiotensin II type 1 receptor gene polymorphism is associated with increase of left ventricular mass but not with hypertension.		106165	434	1	1998												
116235	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480	p<=0.05	Olivieri O 2001	11393670	A1166C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Italian		TJB	185	Hs.477887			Journal of hypertension. 2001 May;19(5):879-84			106165	427	1	2001	 AGT 235 T homozygous patients with multivessel CAD have an increased risk of myocardial infarction as compared with subjects with clinically similar phenotype but different genotype.	Case:454; Control:245										
116237	N	Wall Thickness of the Radial and carotid Arteries	CARDIOVASCULAR	CARD	Hypertrophy	3	3q21-q25	AGTR1	149898347	149943480	n	Girerd X 1998	9740630	AT1R A/C1166			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Hypertension. 1998 Sep;32(3):579-83			106165	429	1	1998												
116238	N	Mitral valve prolapse syndromes	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	3	3q21-q25	AGTR1	149898347	149943480	n	Chou HT et al. 2002	11999641				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese	Taiwan	KGB	185	Hs.477887			Circulation journal. 2002 Feb;66(2):163-6	Angiotensin II type 1 receptor gene adenine/cytosine1166 polymorphism is not associated with mitral valve prolapse syndrome in Taiwan Chinese.		106165	430	1	2002												
116231		Chronic Glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	3	3q21-q25	AGTR1	149898347	149943480		Buraczynska M 2001	11865575	A1166C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Polish		TJB	185	Hs.477887			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106165	423	1	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
116233	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480	p<0.00001	Batalla A 2000	11106322	I/D			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			TJB	185	Hs.477887			Clinical chemistry. 2000 Dec;46(12):1910-5			106165	425	1	2000	 Our data suggest a synergistic effect between the APOE and AGT polymorphisms and early MI. The increased risk could be mediated in part through higher cholesterol concentrations among individuals who are AGT-TT + APOE epsilon4 allele carriers.	Case:220; Control:200										
116234	Y	Essential Hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Li X 2001	11484170	A1166C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Chinese		TJB	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106165	426	1	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
116228		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	1	1q42-q43	AGT	228904891	228916564		Zee, R. Y.  et al. 2002	12082592				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		106150	26783	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
116229		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Liljedahl, U.  et al. 2003	12544508				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		106150	27686	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
116230		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	1	1q42-q43	AGT	228904891	228916564		Matayoshi, T.  et al. 2004	15824464				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		106150	28032	2	2004			thiazide diuretics									
116225		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Warpeha, K. M.  et al. 2003	12724690				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		106150	23983	2	2003	Review article											
116226		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q42-q43	AGT	228904891	228916564		Humma, L. M.  et al. 2002	12116890				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		106150	25822	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
116227		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	1	1q42-q43	AGT	228904891	228916564		Sunder-Plassmann, G.  et al. 2002	12394950				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		106150	25823	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
116222		alcoholism; renal disease, end stage	CHEMDEPENDENCY	CHEM	Alcoholism	1	1q42-q43	AGT	228904891	228916564		Connor, J. P.  et al. 2002	11918988				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Australia	CDC GDPinfo	183	Hs.19383			European psychiatry. 2002 Mar;17(1):17-23	D(2) dopamine receptor (DRD2) polymorphism is associated with severity of alcohol dependence.		106150	23980	2	2002	In sum, alcohol-dependent patients with the DRD2 A(1) allele compared to patients without this allele are characterized by greater severity of their disorder across a range of problem drinking indices. The implications of these findings are discussed.	Cohort sample of Caucasian adults recruited from an alcohol detoxification unit ;Control:260 control subjects not otherwise specified in:abstract;Case:260 end stage renal disease patients										
116223		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	1	1q42-q43	AGT	228904891	228916564		Navarro-Lopez, F.   2002	11975906				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		106150	23981	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
116224		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	1	1q42-q43	AGT	228904891	228916564			16369102				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		106150	23982	2	2006			diet family history stress									
116219		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Kosachunhanun, N.  et al. 2003	14530292				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		106150	23977	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
116220		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564			16314886				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			The pharmacogenomics journal. 2006 Jan-Feb;6(1):22-6	Interactions between five candidate genes and antihypertensive drug therapy on blood pressure		106150	23978	2	2005			antihypertensive									
116221		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	1	1q42-q43	AGT	228904891	228916564		Tiago, A. D.  et al. 2001	11447495				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	South African	South Africa	CDC GDPinfo	183	Hs.19383			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		106150	23979	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
116216		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Tiago, A. D.  et al. 2003	14643573				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		South Africa	CDC GDPinfo	183	Hs.19383			American journal of hypertension. 2003 Dec;16(12):1006-10	Impact of renin-angiotensin-aldosterone system gene variants on the severity of hypertension in patients with newly diagnosed hypertension.		106150	20381	2	2003	 A variant within the CYP11B2 locus has a clinically important impact on the severity of SBP changes in individuals with newly diagnosed hypertension who are of African ethnicity.	Cohort 231 newly diagnosed hypertensive patients of African ancestry who had never received hypertension treatment 										
116217		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Cardiomegaly|Hypertension	1	1q42-q43	AGT	228904891	228916564			12469628				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Ter Arkh. 2002 ;74(10):30-7	[Clinico-genetic aspects of the hypotensive response and regression of left ventricular hypertrophy in arterial hypertension patients]		106150	20382	2		 Regress of LVH in AH patients depends on dynamics and complex interactions of some hemodynamic, laboratory and genetic parameters.	Cohort 64 patients with arterial hypertension and left ventricular hypertrophy 										
116218		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564			16392768				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	CDC GDPinfo	183	Hs.19383			Hypertension research. 2005 Aug;28(8):645-50	Combined analysis of polymorphisms in angiotensinogen and adducin genes and their effects on hypertension in a Japanese sample: The ShigarakiStudy		106150	20383	2	2005			salt									
116213		restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis	1	1q42-q43	AGT	228904891	228916564		Ryu, S. K.  et al. 2002	12205735				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Yonsei medical journal. 2002 Aug;43(4):461-72	Renin-angiotensin-aldosterone system (RAAS) gene polymorphism as a risk factor of coronary in-stent restenosis.		106150	20378	2	2002	In conclusion, while the ACE I/D polymorphism promoted the progress of in-stent restenosis and was of clinical significance, the other potential variables examined did not correlate with in-stent restenosis.	Cohort 238 patients (272 stents) who underwent coronary stenting and follow-up angiography 										
116214		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	1	1q42-q43	AGT	228904891	228916564		Tiago, A. D.  et al. 2002	12031704				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Cardiovascular research. 2002 Jun;54(3):584-9	An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.		106150	20379	2	2002	 A CYP11B2 gene variant predicts the variable improvement in LV ejection fraction that occurs subsequent to initiating medical therapy in IDC. These data suggest a role for the aldosterone synthase locus in regulating the progression of heart failure.	Case:107 patients with dilated cadiomyopathy	ACE inhibitor digoxin furosemide									
116215	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Porto, P. I.  et al. 2003	12611423				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Clinical and experimental hypertension (New York, NY :  1993). 2003 Feb;25(2):117-30	Renin-angiotensin-aldosterone system loci and multilocus interactions in young-onset essential hypertension.		106150	20380	2	2003	 In addition to the angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) gene variants, gene-gene interactions may be important causative factors in a complex disease such as young-onset essential hypertension.	Control:121 age-matched normotensives, recruited from a high-school student population of 934 interviewed:individuals;Case:54 adolescents with hypertension, recruited from a high-school student population of 934 interviewed:individuals										
116210		lipid metabolism	METABOLIC	MET		1	1q42-q43	AGT	228904891	228916564		Pallaud, C.  et al. 2001	11714857				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		106150	20375	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
116211		hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564			15112434				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Tsitologiia. 2004 ;46(1):69-78	[Impact of angiotensin-converting enzyme, angiotensinogen, endothelial NO synthase, and bradykinin receptor B2 gene polymorphisms on myocardium in patients with hypertension and in athletes]		106150	20376	2	2004	At the same time, the ACE and AND gene polymorphisms displayed no association with the cardiac structure and function.	Cohort 114/94 hypertensive patients (n=114) and athletes (n=94) 										
116212	Y	renal disease, end stage	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Lovati, E.  et al. 2001	11422735				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		106150	20377	2	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
116207		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564			11963567				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		106150	20372	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
116208		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1q42-q43	AGT	228904891	228916564		Spiridonova, M. G.  et al. 2001	11507973				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Russia	CDC GDPinfo	183	Hs.19383			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		106150	20373	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
116209		blood pressure, arterial	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Sass, C.  et al. 2004	15076187				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		106150	20374	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
116204		albuminuria	HEMATOLOGICAL	HEM	Albuminuria|Hypertension|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Thomas, G. N.  et al. 2001	11200871				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese	China	CDC GDPinfo	183	Hs.19383			Clinical nephrology. 2001 Jan;55(1):15-Jul	Albuminuria and the renin-angiotensin system gene polymorphisms in type-2-diabetic and in normoglycemic hypertensive Chinese		106150	20369	2	2001	 In this cohort of Chinese subjects, the ACE gene polymorphism D allele was less frequent in normoglycemic hypertensive patients with albuminuria and in type 2 diabetes.	Control:111 Chinese controls;Case:405 Chinese type 2 diabetics;Case:98 Chinese normoglycemic hypertensives										
116205		hypertension; renal dysfunction, posttransplantation	CARDIOVASCULAR	CARD	Kidney Diseases|Hypertension	1	1q42-q43	AGT	228904891	228916564		Abdi, R.  et al. 2001	11544438				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation. 2001 Aug;72(4):726-9	Angiotensin gene polymorphism as a determinant of posttransplantation renal dysfunction and hypertension.		106150	20370	2	2001	 Pretransplantation testing of the ACE, AGT, and AT1 genotypes may assist clinicians in identifying patients at risk for chronic renal transplant dysfunction and hypertension.	Cohort 148 patients (77 men, 71 women) who underwent transplantation over a 5-year period 										
116206		nephropathy, congenital obstructive	RENAL	REN	Multicystic Dysplastic Kidney|Hydronephrosis|Ureteral Obstruction	1	1q42-q43	AGT	228904891	228916564		Hahn, H.  et al. 2005	16133060				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Pediatric nephrology (Berlin, Germany). 2005 Nov;20(11):1541-4	Implication of genetic variations in congenital obstructive nephropathy.		106150	20371	2	2005												
116201	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies	1	1q42-q43	AGT	228904891	228916564		Wu, S.  et al. 2000	11776100				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Chinese medical journal. 2000 May;113(5):437-41	Relationship between the renin-angiotensin system genes and diabetic nephropathy in the Chinese.		106150	20366	2	2000	 Our study revealed RAS genes, ACE and AGT-M235T but not AGT-T174M, AGTR1 or REN genotypes, as contributing factors for DN in type 2 diabetes mellitus in Chinese.	Case diabetics with nephropathy;Case diabetics without nephropathy;Control not specified in abstract										
116202		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Zhu, X.  et al. 2003	12695419				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Hypertension. 2003 May;41(5):1027-34	Associations between hypertension and genes in the renin-angiotensin system.		106150	20367	2	2003	Thus, in this biracial population sample, we find evidence that interindividual variation in the renin-angiotensin system genes contributes to hypertension risk.	Control:108/113 African American (n=108) and European American:(n=113) controls;Case:84/41 African American (n=84) and European American (n=41)hypertension cases										
116203		renal function	UNKNOWN	UNK	Glomerulonephritis, IGA|Kidney Failure, Chronic	1	1q42-q43	AGT	228904891	228916564		Frimat L  et al. 2000	11053482				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of the American Society of Nephrology. 2000 Nov;11(11):2062-7	Polymorphism of angiotensin converting enzyme, angiotensinogen, and angiotensin II type 1 receptor genes and end-stage renal failure in IgA nephropathy: IGARAS--a study of 274 Men.		106150	20368	2	2000	Compared with S(cr) and 24-P, genotypes DD, TT, and AA are unlikely to serve as clinically useful predictors of ESRF in IgAN.	Case:274 274 Caucasian men with biopsy-proven IgAN (n = 86, 112, and 76 in stages 1, 2, and 3, respectively										
116198		esophageal varices	OTHER	OTH	Esophageal and Gastric Varices|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Coto, E.  et al. 2001	11707686				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of cardiovascular pharmacology. 2001 Dec;38(6):833-9	Variation at the Angiotensin-converting enzyme and endothelial nitric oxide synthase genes is associated with the risk of esophageal varices among patients with alcoholic cirrhosis		106150	20363	2	2001	The genotypes associated with an increased risk for varices have been linked to higher plasma levels of nitric oxide and reduced levels of ACE. These genotypes could have a vasodilatory effect in the systemic and splanchnic circulation, thus favoring the development of portocollaterals.	Case:145 male patients with liver cirrhosis;Control:200 healthy controls										
116199		arterial disease	CARDIOVASCULAR	CARD	Retinal Artery Occlusion|Hypertension, Renovascular|Arteriosclerosis	1	1q42-q43	AGT	228904891	228916564		Van Onna, M.  et al. 2004	15326089				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Hypertension. 2004 Oct;44(4):448-53	Genetic risk of atherosclerotic renal artery disease: the candidate gene approach in a renalangiography cohort.		106150	20364	2	2004	We hypothesize that the Asp allele of the Glu298Asp polymorphism may predispose to the development of atherosclerotic lesions but that renal artery involvement depends on other factors, also.	Control:200/154 nondiseased normotensive (n=200) and hypertensive (n=154) patients from a family practice;Case:456 consecutive hypertensive patients referred for renal angiography on the suspicion of renovascular:hypertension										
116200		glaucoma; glaucoma, primary open-angle	VISION	VIS		1	1q42-q43	AGT	228904891	228916564		Rupert, J. L.  et al. 2003	12556231				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Indian		CDC GDPinfo	183	Hs.19383			Annals of human genetics. 2003 Jan;67(Pt 1):17-25	Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations.		106150	20365	2	2003	There was no evidence for an over-representation of the RAS alleles associated with cardiovascular fitness in the high-altitude Amerindian population when compared to the lowland Amerindian population.	Cohort a high-altitude native Andean population and a lowland Amerindian population, Maya Zuechua and Yucatan peninsula, Peru 										
116195		nephropathy in other diseases	RENAL	REN	Glomerulonephritis, Membranous	1	1q42-q43	AGT	228904891	228916564		Stratta, P.  et al. 2004	14767013				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Nephrology, dialysis, transplantation. 2004 Mar;19(3):587-95	Interaction between gene polymorphisms of nitric oxide synthase and renin-angiotensin system in the progression of membranous glomerulonephritis.		106150	20360	2	2004	 This study is the first to demonstrate a role for an interaction between simultaneous variations of genes encoding for NOS and components of RAS in the progression of MGN. Interactions between various polymorphisms may explain conflicting results obtained in previous studies that examined single gene variations, since the effect of a single locus variation may be influenced by the simultaneous presence of other variant alleles in polygenic diseases such as primary GN. However, the small sample sizes and possible multiple interactions limited the interpretation of the current findings, which may represent true biological interaction or simply statistical interactions or spurious results due to the small sample sizes.	Case:117 patients with serum creatinine (s-Cr) <1.5 mg/dl at renal biopsy and follow-up >/==" BORDER="0"> 5 years (Kaplan-Meier and Cox multivariate analysis);Control:171 organ donors										
116196	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis	1	1q42-q43	AGT	228904891	228916564		Berdeli, A.  et al. 2005	15563875				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Turkish	Turkey	CDC GDPinfo	183	Hs.19383			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):87-94	Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population.		106150	20361	2	2005	 This study indicates a synergistic contribution of RAS genes (ACE I/D, AGT T/M, AT1R T/C) and eNOS Glu298Asp polymorphisms to the development of the premature CAD.	Case:115 Turkish patients with premature coronary artery:disease;Control:83:controls										
116197		cerebral white matter lesions	NEUROLOGICAL	NEUR	Brain Injuries|Hypertension|Diabetes Mellitus	1	1q42-q43	AGT	228904891	228916564		Henskens, L. H.  et al. 2005	16109907				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1869-73	Associations of the angiotensin II type 1 receptor A1166C and the endothelial NO synthase G894T gene polymorphisms with silent subcortical white matter lesions in essential hypertension.		106150	20362	2	2005	 We found the AGTR1 A1166C as well as the NOS3 G894T polymorphisms to be associated with silent WMLs in the subcortical area.											
116192	N	renal allograft function	UNKNOWN	UNK	Disease Progression	1	1q42-q43	AGT	228904891	228916564		Nicod, J.  et al. 2002	11923700				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation. 2002 Mar;73(6):960-5	Recipient RAS gene variants and renal allograft function.		106150	20357	2	2002	 The rate of decline in renal allograft function is strongly associated with the CYP11B2 but not AGT, ACE, or AGT1R genotypes. This finding suggests that certain genetic factors related to the RAS are important determinants of long-term renal allograft function.	Cohort 223 first-allograft recipients 										
116193		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Poch, E.  et al. 2001	11711524				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		106150	20358	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
116194		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Basset, = el-EA et al. 2002	11926202				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Clinical nephrology. 2002 Mar;57(3):192-200	Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS.		106150	20359	2	2002	 This study produced mainly negative results except for ecNOS-a allele, which seems to protect against severe hypertension. The explanation remains speculative but probably relates to the known cyclosporine-induced upregulation of ecNOS gene and enzyme activity.	Cohort 294 consecutive recipients receiving a first renal cadaveric allograft and all treated with CsA (the majority with triple therapy). 										
116189		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Disease Progression	1	1q42-q43	AGT	228904891	228916564		Coll, E.  et al. 2003	12832734				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of nephrology. 2003 May-Jun;16(3):357-64	Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency.		106150	20354	2	2003	 These results indicate that susceptibility to faster progression to ESRD is associated with the AT1R A1166C polymorphism. This association remains significant after adjustment for relevant covariates, highlighting the importance of analyzing genetic risk factors in the context of clinical and biochemical variables.	Cohort 104 end-stage renal disease patients 										
116190		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Castellano, M.  et al. 2003	14508191				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Italian	Italy	CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2003 Oct;21(10):1853-60	Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPERProject.		106150	20355	2	2003	 Our results suggest that some allelic variants of RAAS genes carry a small but identifiable risk of developing arterial hypertension.	Case:1850 hypertensive subjects:Italy;Control:611 normotensive subjects										
116191		kidney failure, chronic	RENAL	REN	Kidney Failure, Acute|Hypertension	1	1q42-q43	AGT	228904891	228916564		Fabris, B.  et al. 2005	15662219				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Italy	CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2005 Feb;23(2):309-16	Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.		106150	20356	2	2005	 Our findings suggest that in patients with essential hypertension an unfavorable genetic pattern of RAAS may contribute to the increased risk for the development of renal failure.	Control:172 hypertensive patients without renal insufficiency matched for age and hypertension duration to within 2 years;Case:86 hypertensive patients with renal insufficiency										
116186		aortic stiffness	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Lajemi, M.  et al. 2001	11288810				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2001 Mar;19(3):407-13	Angiotensin II type 1 receptor-153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects		106150	20351	2	2001	 AT1 receptor genotypes could influence arterial ageing in hypertensive subjects. These results also show that the association between genotypes and arterial stiffness may manifest itself later in life.	Cohort 441 18-74 year old untreated hypertensive subjects European origin 										
116187		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1q42-q43	AGT	228904891	228916564		Kurland, L.  et al. 2002	11910301				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Sweden	CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2002 Apr;20(4):657-63	Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from theSwedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (		106150	20352	2	2002	The angiotensinogen T174M and M235T and the AT1-receptor A1166C polymorphisms were related to the change in LVH during antihypertensive treatment with an AT1-receptor antagonist; of these angiotensinogen T174M was the most powerful. This highlights the role of the RAAS for left ventricular hypertrophy and the potential of pharmacogenetics as a tool for guidance of antihypertensive therapy.	Cohort Patients with essential hypertension and echocardiographically diagnosed LVH 	atenolol irbesartan									
116188		blood pressure, arterial; atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	1	1q42-q43	AGT	228904891	228916564		Kikuya, M.  et al. 2003	12627873				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	CDC GDPinfo	183	Hs.19383			Hypertension research. 2003 Feb;26(2):141-5	A/C1166 gene polymorphism of the angiotensin II type 1 receptor (AT1) and ambulatory blood pressure: the Ohasama Study.		106150	20353	2	2003	These results indicated that AT1 A/C1166 polymorphism was not associated with any clinical parameters associated with hypertension or atherosclerosis in the Japanese population.	Cohort 802 Japanese subjects aged 40 and over from the Ohasama Study 										
116183		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	1	1q42-q43	AGT	228904891	228916564		Pallaud, C.  et al. 2001	11341749				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		France|Italy	CDC GDPinfo	183	Hs.19383			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		106150	20348	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
116184		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1q42-q43	AGT	228904891	228916564		Shlyakhto, E. V.  et al. 2001	11688760				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Russia	CDC GDPinfo	183	Hs.19383			Blood pressure. 2001 ;10(3):135-41	Lack of association of the renin-angiotensin system genes polymorphisms and left ventricular hypertrophy in hypertension		106150	20349	2	2001	 In the light of these observations it seems reasonable to make a preliminary conclusion about lack of association between LVH and distinct polymorphisms of renin-angiotensin system genes in the population studied.	Cohort 156 patients (the mean age 49+/-8 years) with mild-to-moderate EH recruited from the general population of the outpatient clinic 										
116185	N	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Nalogowska-Glo&sacute;nicka, K.  et al. 2000	11208365				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Poland	CDC GDPinfo	183	Hs.19383			Medical science monitor. 2000 May-Jun;6(3):523-9	Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension		106150	20350	2	2000	 On the basis of the results of our study, we may suggest that AGTR1 gene A1166C polymorphism may predispose women to the development of PIH. It seems that ACE gene I/D and Pst1 RFLP polymorphism, AGT gene M235T polymorphism, and finally chymase gene CMA/B polymorphism do not play any significant role in the pathogenesis of PIH in Caucasian women.	Case:126 women suffering from PIH;Control:150 healthy pregnant women	pregnancy									
116180		cysclosporine toxicity	PHARMACOGENOMIC	PHARM		1	1q42-q43	AGT	228904891	228916564		Ozdemir, F. N.  et al. 2004	15013322				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation proceedings. 2004 Jan-Feb;36(1):128-30	The renin-angiotensin system and endothelial nitric oxide synthase gene polymorphisms and cyclosporine toxicity in renal transplant patients.		106150	20345	2	2004	We could not find any relation between cyclosporine toxicity and gene polymorphisms (P >.05), although the mean mg/kg/d dose was significantly high among cyclosporine toxicity group (P =.028, RR = 1.42). In recent studies angiotensin II and nitric oxide have been suggested to be related to cyclosporine toxicity; however, our results failed to reveal an association between cyclosporine toxicity and angiotensin II or nitric oxide-related gene polymorphisms.	Cohort 111 renal transplant patients 										
116181		posttransplantation erythrocytosis	OTHER	OTH	Polycythemia|Postoperative Complications	1	1q42-q43	AGT	228904891	228916564		Micozkadioglu, H.  et al. 2004	15013333				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation proceedings. 2004 Jan-Feb;36(1):161-3	Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.		106150	20346	2	2004	While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.	Cohort 96 renal transplant patients 										
116182		kidney transplant	IMMUNE	IMM		1	1q42-q43	AGT	228904891	228916564		Akcay, A.  et al. 2004	15385810				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation. 2004 Sep;78(6):892-8	Association of the genetic polymorphisms of the renin-angiotensin system and endothelial nitric oxide synthase with chronic renal transplant dysfunction.		106150	20347	2	2004	 These findings suggest that the DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD.	Cohort 125 patients who underwent renal transplantation during a 5-year period 										
116177		graft-versus-host disease	IMMUNE	IMM	Kidney Neoplasms	1	1q42-q43	AGT	228904891	228916564		Akcay, A.  et al. 2004	15013293				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Transplantation proceedings. 2004 Jan-Feb;36(1):35-7	Angiotensin-converting enzyme genotype is a predictive factor in the peak panel-reactive antibody response.		106150	20342	2	2004	This study suggests that genetic control of RAS activity correlates with production of anti-HLA antibodies, possibly explaining the relationship to chronic allograft outcome.	Cohort 133 dialysis patients 										
116178		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q42-q43	AGT	228904891	228916564		Hashizume, K.  et al. 2005	15914614				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	CDC GDPinfo	183	Hs.19383			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		106150	20343	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
116174		glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	1	1q42-q43	AGT	228904891	228916564		Buraczynska, M.  et al. 2001	11865575				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Polish		CDC GDPinfo	183	Hs.19383			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106150	20339	2	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
116175		nephropathy, diabetic; blood pressure, arterial; proteinuria	RENAL	REN	Kidney Diseases|Glomerulonephritis|Proteinuria|Chronic Disease	1	1q42-q43	AGT	228904891	228916564		Coto, E.  et al. 2005	16231503				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Nefrologia. 2005 ;25(4):381-6	[Pharmacogenetics of angiotensin system in non diabetic nephropathy]		106150	20340	2	2005	 Our data show that the effects of losartan and amlodipine on the absolute mean reduction of blood pressure and proteinuria in non-diabetic nephropathy patients are similar between the different ACE or AGT genotypes. Although based on a small number of patients, the AGTR1-AA genotype was associated with a significantly higher reduction in diastolic blood pressure among losartan-treated patients. Additional studies are necessary to refute or confirm this association.		amlodipine losartan									
116176		kidney disease	RENAL	REN	Urinary Tract Infections|Kidney Diseases|Kidney Failure, Chronic|Vesico-Ureteral Reflux	1	1q42-q43	AGT	228904891	228916564		Pardo, R.  et al. 2003	12579398				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Pediatric nephrology (Berlin, Germany). 2003 Feb;18(2):110-4	Renin-angiotensin system polymorphisms and renal scarring		106150	20341	2	2003	We conclude that  genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR.	Control:40 patients with urinary tract infection and normal findings on renal ultrasonography and voiding:cystoureterogram;Case:69/110/27 patients with vesicoureteral reflux (n=69), reflux nephropathy (n=110) and chronic renal failure:(n=27)										
116171	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Giner, V.  et al. 2001	11707217				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Spanish	Spain	CDC GDPinfo	183	Hs.19383			Med Clin (Barc). 2001 Nov;117(14):525-9	[Renin-angiotensin system genetic polymorphisms and essential hypertension in the Spanish population]		106150	20336	2	2001	 We found no association between essential hypertension risk and I/D ACE gene, M235T and A-6G angiotensinogen gene, or A1166C angiotensin II type 1 receptor gene polymorphisms. An epistatic effect was observed in young women between angiotensin II type 1 receptor polymorphisms and angiotensinogen polymorphisms.	Case:185 essential hypertensive subjects(age [SD] 39.6 [7.5]:years;Control:350 sex- and age-matched normotensive individuals selected from a sample of the general population:Valenciana, Spain										
116172		nephropathy in other diseases	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Buraczynska, M.  et al. 2002	12476891				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Pol Arch Med Wewn. 2002 Aug;108(2):725-30	[Association of the renin-angiotensin system gene polymorphism with nephropathy in type II diabetes]		106150	20337	2	2002	These results suggest increased susceptibility to diabetic nephropathy in individuals carrying the CC genotype. Therefore, the A1166C polymorphism of the AT1R gene could be a potential genetic marker for increased susceptibility to renal complications in type 2 diabetes.	Case:117 patients with diabetic nephropathy;Control:200 healthy subjects										
116173		coronary artery thrombosis	CARDIOVASCULAR	CARD	Coronary Thrombosis	1	1q42-q43	AGT	228904891	228916564		Zhu, T. N.  et al. 2004	15498133				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Oct;12(5):674-9	[Gene polymorphisms of rennin-Angiotensin system and coronary artery thrombosis disease.]		106150	20338	2	2004	Although these three polymorphisms were not independent risk factors for CATD or myocardial infarction (MI) in Chinese, AT1R-AC genotype has a significant synergistic effect with AGT-TT genotype. There is also a obvious interaction between AT1R-AC genotype and ACE D allele.	Control:110:controls;Case:192 coronary artery thrombosis disease cases										
116168		diabetes, type 2; polymetabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	1	1q42-q43	AGT	228904891	228916564		Miloserdova OV et al. 2001	11761617				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Moscow	CDC GDPinfo	183	Hs.19383			Genetika. 2001 Oct;37(10):1396-401	[Analysis of polymorphic variants of renin-angiotensin system genes in polymetabolic syndrome and non-insulin-dependent diabetes]		106150	20333	2	2001	The insertional (I) allele and genotype II of the ACE gene proved to be associated with PMS. A significant difference in allele and genotype frequency distributions of the (CA)n microsatellite of the 3'-untranslated exon of the angiotensinogen gene was revealed between randomly sampled individuals and patients with PMS and IDDM from the Moscow population.											
116169	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q42-q43	AGT	228904891	228916564		Bai, H.  et al. 2002	12575194				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Hua xi yi ke da xue xue bao. 2002 Apr;33(2):233-7	[Angiotensinogen and angiotensin-I converting enzyme gene variations in Chinese pregnancy induced hypertension]		106150	20334	2	2002	 There was no evidence in this study for the association of AGT M235T and ACE I/D polymorphism with pre-eclampsia in Chinese population in Chengdu area.	Control:205 normal pregnant women from a population of Chinese Han nationality;Case:81 women with pre-eclampsia from a population of Chinese Han nationality:Chengdu, China										
116170		hypertension	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Li, X.  et al. 2001	11484170				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106150	20335	2	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
116165		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Poch, E.  et al. 2002	12015946				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Med Clin (Barc). 2002 Apr;118(15):575-9	[Genetic polymorphisms of the renin-angiotensin system and essential hypertension]		106150	20330	2	2002	 This study suggests that in the population studied, the contribution of the ACE I/D polymorphism and the AGT M235T polymorphism in the development of EH is less important than previously estimated.	Case:1204 patients with hypertension;Control:647 individuals with no family history of cardiovascular disease who had a normal blood:pressure										
116166		hypertension; cardiovascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564			12669427				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Kazakhstan	CDC GDPinfo	183	Hs.19383			Genetika. 2003 Feb;39(2):293-9	[Polymorphism of the promotor region of the angiotensinogen gene and the gene for angiotensin I-converting enzyme in arterial hypertension and myocardial ischemia of the Kazakh ethnic groups]		106150	20331	2	2003	A comparative analysis of the distribution of genotype and allele frequencies was conducted.	Case Kazakh patients with cardiovascular disease and patients with arterial hypertension;Control:controls										
116167	Y	obesity; blood pressure, arterial; sleep apnea	METABOLIC	MET	Sleep Apnea, Obstructive|Obesity	1	1q42-q43	AGT	228904891	228916564		Zhang, L. Q.  et al. 2004	15387996				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Zhonghua jie he he hu xi za zhi. 2004 Aug;27(8):507-10	[Association of polymorphisms in the angiotensin system genes with obstructive sleep apnea-hypopnea syndrome]		106150	20332	2	2004	 ACE polymorphism may not be correlated with central obesity and OSAHS in the population. AGT polymorphism may be involved in the development of central obesity and may be related to OSAHS and hypertension in OSAHS patients by the central obesity in male OSAHS subjects of North region Han population of China.	Control:110 non-obstructive sleep apnea-hypopnea syndrome:controls;Case:121 Chinese Han obstructive sleep apnea-hypopnea:syndrome:China										
116162		metabolic syndrome	METABOLIC	MET	Coronary Disease|Metabolic Syndrome X	1	1q42-q43	AGT	228904891	228916564		Pollex, R. L.  et al. 2005	15869758				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Canadian		CDC GDPinfo	183	Hs.19383			Atherosclerosis. 2006 Jan;184(1):121-9	Metabolic syndrome in aboriginal Canadians:Prevalence and genetic associations		106150	16625	2	2005	 The high MetS prevalence in Oji-Cree adults, especially women, is consistent with their high risk of T2DM and CHD. Functional polymorphisms in three candidate genes for plasma lipoproteins and blood pressure were associated with MetS in adult Oji-Cree. Furthermore, several female adolescents met the adult MetS criteria, suggesting that the genesis of MetS begins in youth, especially among aboriginal females.	Cohort 515/115 adult (>/=18 years old, n=515) and adolescent (<18 years old, n=115) Oji-Cree subjects 										
116163	Y	preeclampsia; abruptio placentae	REPRODUCTION	REP	Pre-Eclampsia|Abruptio Placentae	1	1q42-q43	AGT	228904891	228916564		Hillermann, R.  et al. 2005	16059745				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		South Africa	CDC GDPinfo	183	Hs.19383			Journal of human genetics. 2005 ;50(8):415-9	The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia.		106150	18651	2	2005												
116159	Y	longevity	AGING	AGE		1	1q42-q43	AGT	228904891	228916564		Stessman, J.  et al. 2005	15621215				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		106150	15530	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
116160		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q42-q43	AGT	228904891	228916564		Pallaud, C.  et al. 2001	11359462				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		106150	15597	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
116161		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q42-q43	AGT	228904891	228916564		Pallaud, C.  et al. 2001	11575217				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	French		CDC GDPinfo	183	Hs.19383			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		106150	15599	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
116156	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1q42-q43	AGT	228904891	228916564		Cai, S.  et al. 2004	15192838	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):280-2	[Association of angiotensinogen gene M235T variant with hypertrophic cardiomyopathy]		106150	15125	2	2004	 The variant M235T of the AGT gene is significantly associated with HCM in this population. The genotype TT or allele T might be a genetic risk factor for the development and extent of hypertrophy in HCM patients.	Case:72 hypertrophic cardiomyopathic patients;Control:80 normal controls										
116157		hypertension	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Yu, H. M.  et al. 2005	16266458				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Sep;33(9):819-23	[The AGT genotype affects the antihypertensive effects of benazepril]		106150	15126	2	2005	 The M235T polymorphism of the AGT gene was shown to influence the responses to benazepril in old hypertensive patients (> or = 60 years old). Thus, specific genotypes might predict the response to specific antihypertensive treatment.											
116158	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Olivieri, O.  et al. 2001	11393670				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of hypertension. 2001 May;19(5):879-84	Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease.		106150	15378	2	2001	 AGT 235 T homozygous patients with multivessel CAD have an increased risk of myocardial infarction as compared with subjects with clinically similar phenotype but different genotype.	Control:245 Subjects with angiographically documented normal coronary arteries;Case:454 patients were candidates for coronary artery bypass grafting, having angiographically documented (mainly multi-vessel) CAD										
116153		coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q42-q43	AGT	228904891	228916564		Spiridonova, M. G.  et al. 2001	11234373				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Russia	CDC GDPinfo	183	Hs.19383			Molekuliarnaia biologiia. 2001 Jan-Feb;35(1):14-8	[Connection of the polymorphic variant T174M angiotensinogen gene with coronary atherosclerosis in the Tomsk population]		106150	15122	2	2001	no conclusion stated in abstract	Case patients with angiographically verified CAS West Siberia;Control healthy individuals:Cohort a population sample nondifferentiated with respect to coronary atherosclerosis										
116154	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Wang, A. L.  et al. 2003	14669517				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Yi chuan xue bao. 2003 Oct;30(10):978-82	[Studies of the association between angiotensinogen gene regulation and cytokines in essential hypertension]		106150	15123	2	2003	The study indicated that AGT gene TT genotype and AGT gene 235 T allele frequency may be an important risk factor for hypertension. The high frequency of AGT gene 235 T allele and the high concentrations of IL-1, IL-6 and TNF in hypertensives may cause hypertension developing. It is also suggested the cytokines may effect the transcription and expression of AGT gene 235 TT genotype in hypertension. The concentrations of IL-1, IL-6 and TNF had nothing to do with age no matter hypertensives or controls.	Case:hypertensives;Control:controls										
116155	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Cai, S. Y.  et al. 2004	15067738	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Zhejiang da xue xue bao Yi xue ban. 2004 Mar;33(2):151-4	[Association of angiotensinogen gene M235T variant with essential hypertension]		106150	15124	2	2004	 The molecular variant M235T of the AGT gene is significantly associated with essential hypertension in this population. The genotype TT or allele T235 might be a genetic risk factor for hypertension.	Control:114 normotensive controls;Case:116 hypertensive patients										
116150	Y	menopause	REPRODUCTION	REP	Thrombophilia	1	1q42-q43	AGT	228904891	228916564		Tempfer, C. B.  et al. 2005	15879922				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		106150	13700	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
116151		arterial disease, renal	CARDIOVASCULAR	CARD	Renal Artery Obstruction|Atherosclerosis|Recurrence	1	1q42-q43	AGT	228904891	228916564		Reis, K. A.  et al. 2005	16228848				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Cardiovascular and interventional radiology. 2006 Jan-Feb;29(1):59-63	Angiotensinogen and Plasminogen Activator Inhibitor-1 Gene Polymorphism in Relation to Renovascular Disease.		106150	13710	2	2005												
116152		atherosclerosis, coronary	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Ortlepp, J. R.  et al. 2002	12446192				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		106150	14707	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
116147		kidney disease	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Reis, K.  et al. 2005	15659127				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Clinical transplantation. 2005 Feb;19(1):4-Oct	Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction		106150	13650	2	2002	Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction.	Control:100/80 healthy subjects tested for AGT polymorphism (n=100, 54 males and 46 females; mean age 35.54+/-10.26 years) and healthy subjects tested for the PAI-1 polymorphism (n=80, 45 males and 35 females; mean age 36.54+/-12.41);Case:82 renal allograft recipients (47 males and 35 females; mean age 34.87+/-11.22 years)										
116148		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1q42-q43	AGT	228904891	228916564		Tempfer, C. B.  et al. 2004	15120696				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		106150	13681	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
116149		kidney transplant	IMMUNE	IMM	Kidney Failure, Chronic|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Reis, K.  et al. 2005	15659127				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Clinical transplantation. 2005 Feb;19(1):4-Oct	Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction*		106150	13693	2	2005	Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction.	Control:100/80 healthy subjects investigated for AGT polymorphism (n=100) and for the PAI-1 polymorphism (n=80);Case:82 renal allograft recipients										
116144	N	cardiac death; cardiac morbidity	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q42-q43	AGT	228904891	228916564		Volzke, H.  et al. 2005	15676177				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			International journal of cardiology. 2005 Jan;98(1):133-9	Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery		106150	12054	2	2005	 We conclude that there are interactions between the angiotensin II type 1 receptor 1166 A/C as well as the angiotensinogen 235 M/T gene polymorphism and age with respect to the outcome after coronary artery bypass graft surgery. The glycoprotein IIIa PlA1/PlA2 and the factor V Leiden 1691 G/A gene polymorphisms were not associated with mid-term mortality or cardiac morbidity after coronary artery bypass grafting.	Cohort 247 coronary artery bypass graft surgery patients 										
116145		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	1	1q42-q43	AGT	228904891	228916564		Azurmendi, P.  et al. 2004	15628301				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Medicina. 2004 ;64(2):139-42	[Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]		106150	12856	2	2004	AT1 1166CC and ecNOS 298Asp/Asp are associated with earlier A2 and A6 whereas AGT 235TT induce twofold increase in GFRd, suggesting that RAS and ecNOS are involved in ADPKD progression.	Cohort 88 autosomic dominant polycystic kidney disease patients 										
116146	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q42-q43	AGT	228904891	228916564		Taylor, A.  et al. 2001	11803527				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			American journal of medical genetics. 2001 Dec;105(8):761-4	Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.		106150	13477	2	2001	Thus, these polymorphisms are unlikely to be associated with AD risk.	Case Alzheimer's dissease cases:Britain;Control matched controls										
116141	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Zychma, M. J.  et al. 2000	11096141				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1965-70	Angiotensinogen M235T and chymase gene CMA/B polymorphisms are not associated with nephropathy in type II diabetes.		106150	9425	2	2000	 Our study provided evidence against an association between angiotensinogen M235T or chymase gene CMA/B polymorphisms and the presence of incipient or overt nephropathy in Caucasian patients with type II diabetes.	Control:243 normoalbuminuric controls with long-duration diabetes were selected from a group of 941 type II diabetic patients with established renal status;Case:323/127 323 microalbuminuric and 127 overt proteinuric:cases										
116142		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Bengra, C.  et al. 2002	12446468				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Italian		CDC GDPinfo	183	Hs.19383			Clinical chemistry. 2002 Dec;48(12):2131-40	Genotyping of essential hypertension single-nucleotide polymorphisms by a homogeneous PCR method with universal energy transfer primers.		106150	10897	2	2002	 We developed a simple and homogeneous fluorescent protocol that has been used to determine the SNP genotype for six loci in a population of hypertensive and normotensive persons. We also observed a significant association (P = 0.034) between one SNP (A486V) and an Italian population of mildly hypertensive patients.	Case:60 Italian hypertensive patients;Control:60 normotensive controls										
116143		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1q42-q43	AGT	228904891	228916564		Hefler, L. A.  et al. 2002	11756575			promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Molecular human reproduction. 2002 Jan;8(1):95-100	Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage.		106150	11763	2	2002	Despite promising experimental data, our data fall short of showing any significant association between a variant of the promoter region of IL1B, the M235T polymorphism of Agt, and the Glu298Asp missense variant of Nos3 and the occurrence of IRM.	Case:130 women with a history of idiopathic recurrent:miscarriage;Control:67 healthy control women										
116138		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Chen, P.  et al. 2003	14521795				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese	China	CDC GDPinfo	183	Hs.19383			Zhonghua liu xing bing xue za zhi. 2003 Aug;24(8):711-4	[Meta-analysis on the association of AGT M235T polymorphism and essential hypertension in Chinese population]		106150	8554	2	2003	 In Chinese population (mainly the Hans), TT genotype might be associated with the increased risk of EH while MM genotype be associated with low risk of EH.	Control:835 healthy controls from 10 studies;Case:853 Chinese essential hypertension patients from 10:studies										
116139		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Liu, Y.  et al. 2004	15079791				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		CDC GDPinfo	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):116-9	[Relationship between six single nucleotide polymorphisms of angiotensinogen gene and essential hypertension]		106150	8555	2	2004	 G-152A, A-20C, G-6A and M235T polymorphisms of AGT gene might play an important role in the occurrence of EH in Chinese Han population.	Case:185 Chinese Han patients with essential hypertension;Control:185 healthy controls										
116140		diabetes, type 2; polymetabolic syndrome	METABOLIC	MET		1	1q42-q43	AGT	228904891	228916564			15575510				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDPinfo	183	Hs.19383			Genetika. 2004 Oct;40(10):1410-6	[Analysis of the angiotensinogen gene T174M polymorphism in populations of the Volga-Ural region]		106150	8556	2	2004	Comparison of the results with the literature data on the AGT gene polymorphism in different world populations provided identification of specific trends in the changes of genotype frequency of the AGT gene depending on the ethnicity of the populations.	Cohort individuals from the Volga-Ural region, belonging to Finno-Ugric (Komi-Permyaks, Maris, Mordovians, and Udmurts), Turkic (Chuvashes, Tatars, and Bashkirs), and Eastern-Slavic (Russians) ethnic groups 										
116135	N	diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Dudley CR1995	8587251				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Great Britain	Y Wang	183	Hs.19383	Complications		Kidney international. 1995 Dec;48(6):1907-11	U.K. Prospective Diabetes Study. XV: Relationship of renin-angiotensin system gene polymorphisms with microalbuminuria in NIDDM.		106150	421	1	1995												
116136	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Cai SY 2004	15067738				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Zhejiang da xue xue bao Yi xue ban. 2004 Mar;33(2):151-4	Association of angiotensinogen gene M235T variant with essential hypertension		106150	422	1	2004	 The molecular variant M235T of the AGT gene is significantly associated with essential hypertension in this population. The genotype TT or allele T235 might be a genetic risk factor for hypertension.	Control:114 normotensive controls;Case:116 hypertensive patients										
116137	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Mustafina, O. E.  et al. 2002	12173461				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Russian	Bashkiria	CDC GDPinfo	183	Hs.19383			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):599-604	[Association of the T174M polymorphism of the angiotensinogen gene with essential hypertension in Russians and Tatars from Bashkortostan]		106150	8553	2	2002	Genotype TM was associated with higher risk of EH in people aged beyond 45.	Case patietns with essential hypertension;Control:controls										
116131		hypertension	CARDIOVASCULAR	CARD	Pre-Eclampsia|Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Levesque S 2004	14638622			haplotype	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	French		KGB	183	Hs.19383			Hypertension. 2004 Jan;43(1):71-8	Implication of an AGT haplotype in a multigene association study with pregnancy hypertension.		106150	417	1	2004												
116132		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		JiXiong X 2003	12716844				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese	China	Y Wang	183	Hs.19383			Diabetes care. 2003 May;26(5):1643-4	Renin-angiotensin system gene polymorphisms and retinopathy in chinese patients with type 2 diabetes.		106150	418	1	2003												
116133		allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Kim JJ 2004	15112973				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Czech	Korea	KGB	183	Hs.19383			The Annals of otology, rhinology, and laryngology. 2004 Apr;113(4):297-302	Association between polymorphisms of the angiotensin-converting enzyme and angiotensinogen genes and allergic rhinitis in a Korean population.		106150	419	1	2004												
116127		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Wu SJ 2004	14970360			haplotype	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Physiological genomics. 2004 Apr;17(2):79-86	Three single-nucleotide polymorphisms of the angiotensinogen gene and susceptibility to hypertension: single locus genotype vs. haplotype analysis.		106150	413	1	2004												
116128		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Ohno T 1996	8596493	insertion/deletion			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese		Y Wang	183	Hs.19383	Complications		Metabolism:  clinical and experimental. 1996 Feb;45(2):218-22	Association analyses of the polymorphisms of angiotensin-converting enzyme and angiotensinogen genes with diabetic nephropathy in Japanese non-insulin-dependent diabetics.		106150	414	1	1996												
116129		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Trembath RC1995	7475619				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			Y Wang	183	Hs.19383	Complications		Lancet. 1995 Oct;346(8983):1160	Effect of angiotensinogen gene T235 variant on the development of diabetic complications in type II diabetes mellitus.		106150	415	1	1995												
116123		blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Ortlepp JR 2003	12874613				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	unknown	Germany	KGB	183	Hs.19383			Journal of human hypertension. 2003 Aug;17(8):555-9	Relation between the angiotensinogen (AGT) M235T gene polymorphism and blood pressure in a large, homogeneous study population.		106150	409	1	2003												
116125		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Xue YM 2003	14625185				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			Y Wang	183	Hs.19383	Complications		Di 1 jun yi da xue xue bao. 2003 Nov;23(11):1191-3	Association of angiotensinogen gene polymorphism with hypertension in type 2 diabetic patients		106150	411	1	2003	 The M allele of AGT gene is probably related to hypertension in female type 2 diabetic patients.											
116126		diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Yudkin JS 1997	9351388				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			Y Wang	183	Hs.19383	Complications		Arteriosclerosis, thrombosis, and vascular biology. 1997 Oct;17(10):2188-91	The angiotensin-converting enzyme gene and the angiotensin II type I receptor gene as candidate genes for microalbuminuria. A study in nondiabetic and non-insulin-dependent diabetic subjects.		106150	412	1	1997												
116119	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Chiang FT et al. 1997	9218179				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Taiwan	KGB	183	Hs.19383			Journal of hypertension. 1997 Jun;15(6):607-11	Molecular variant M235T of the angiotensinogen gene is associated with essential hypertension in Taiwanese.		106150	405	1	1997	 The molecular variant M235T, but not T174M, of the AGT gene is associated significantly with essential hypertension in this Taiwanese population. The genotype C/C or allele C is a risk factor for hypertension. The underlying mechanism of this association needs to be elucidated further.											
116120	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	1	1q42-q43	AGT	228904891	228916564		Yamakawa-Kobayashi K et al. 1995	7637519				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Lancet. 1995 Aug;346(8973):515	Absence of association of angiotensinogen gene T235 allele with increased risk of coronary heart disease in Japanese.		106150	406	1	1995		Case:315; Control:380										
116122	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	n	Hirashiki A 2003	14563588	6G3A			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		106150	408	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
116115		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Kato N et al. 1999	10459872				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Journal of hypertension. 1999 Jun;17(6):757-63	Angiotensinogen gene and essential hypertension in the Japanese: extensive association study and meta-analysis on six reported studies.		106150	401	1	1999	 Although the meta-analysis appears in favour of association between the AGT variant and essential hypertension in the Japanese, there is considerable heterogeneity among the studies and the evidence is also rather borderline. Further comprehensive approaches are needed to resolve this debatable issue.											
116116	Y	familial hypertension of early onset.	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Schmidt S et al. 1995	7478115				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Nephrology, dialysis, transplantation. 1995 ;10(7):1145-8	Association of M235T variant of the angiotensinogen gene with familial hypertension of early onset.		106150	402	1	1995												
116118		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Kamitani A et al. 1994	7932516				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Journal of human hypertension. 1994 Jul;8(7):521-4	Association analysis of a polymorphism of the angiotensinogen gene with essential hypertension in Japanese.		106150	404	1	1994												
116111		Microangiopathy- Related Cerebral Damage (MARCD)	OTHER	OTH	Cerebral Arterial Diseases|Hypertension	1	1q42-q43	AGT	228904891	228916564		Schmidt H 2001	11157174	``-6. -20. -153. and -218			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Austria	TJB	183	Hs.19383			Stroke; a journal of cerebral circulation. 2001 Feb;32(2):405-12			106150	397	1	2001	 The B haplotype of the AGT promoter in the absence of the wild-type A haplotype might represent a genetic susceptibility factor for MARCD.											
116112	Y	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell	1	1q42-q43	AGT	228904891	228916564		Tang DC 2001	11754397	A3 and/ orA4			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			TJB	183	Hs.19383			American journal of hematology. 2001 Nov;68(3):164-9			106150	398	1	2001		Case:21; Control:42										
116114	Y	insulin response to oral glucose	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Cong ND et al. 1999	9893168				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Proceedings of the Society for Experimental Biology and Medicine Society for Experimental Biology and Medicine (New York, N Y). 1999 Jan;220(1):46-51	The I/D polymorphism of angiotensin-converting enzyme gene but not the angiotensinogen gene is associated with insulin response to oral glucose in Japanese.		106150	400	1	1999												
116108	Y	restenosis after percutaneous transluminal coronary angioplasty	OTHER	OTH	Coronary Disease|Recurrence	1	1q42-q43	AGT	228904891	228916564		Volzke H et al. 2000	10887054				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Clin Sci (Lond).. 2000 Jul;99(1):19-25	The angiotensinogen gene 235T variant is associated with an increased risk of restenosis after percutaneous transluminal coronary angioplasty.		106150	394	1	2000	We conclude that  the angiotensinogen M235T gene polymorphism may be an independent predictor of restenosis after PTCA.											
116109	Y	Essential Hypertension	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Li X 2001	11484170	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		TJB	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106150	395	1	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
116110	Y	Blood Pressure	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Rankinen T 2000	10899077	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Caucasian		TJB	183	Hs.19383			American journal of physiology Heart and circulatory physiology. 2000 Jul;279(1):H368-74			106150	396	1	2000												
116104	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Nakajima T et al. 1999	10547998				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Nippon Ika Daigaku zasshi. 1999 Oct;66(5):313-5	Molecular variants of the human angiotensinogen gene associated with essential hypertension		106150	390	1	1999												
116105	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Bloem LJ et al. 1997	9149669				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Hypertension. 1997 May;29(5):1078-82	Association of the angiotensinogen gene to serum angiotensinogen in blacks and whites.		106150	391	1	1997												
116106	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Mustafina OE et al. 2002	12173461				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Bashkiria	KGB	183	Hs.19383			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):599-604	Association of the T174M polymorphism of the angiotensinogen gene with essential hypertension in Russians and Tatars from Bashkortostan trans Sviaz' polimorfnogo markera T174M gena angiotenzinogena s essentsial'noi gipertenziei u russkikh i tatar Bashko		106150	392	1	2002	Genotype TM was associated with higher risk of EH in people aged beyond 45.	Case patietns with essential hypertension;Control:controls										
116101	Y	serum concentrations of creatinine	METABOLIC	MET		1	1q42-q43	AGT	228904891	228916564		Hegele RA et al. 1999	10450860				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Clinical genetics. 1999 Jun;55(6):438-43	Association between AGT codon 235 polymorphism and variation in serum concentrations of creatinine and urea in Canadian Oji-Cree.		106150	387	1	1999												
116102	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Albuminuria|Hypertension|Diabetes Mellitus, Type 1	1	1q42-q43	AGT	228904891	228916564		Fogarty DG et al. 1996	8772723				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383	diabetic nephropathy		Diabetes. 1996 Sep;45(9):1204-8	A molecular variant of angiotensinogen is associated with diabetic nephropathy in IDDM.		106150	388	1	1996												
116103	Y	albuminuria	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Young RP et al. 1998	9540028				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese	China|Hong Kong	KGB	183	Hs.19383			Diabetes care. 1998 Mar;21(3):431-7	Angiotensinogen T235 and ACE insertion/deletion polymorphisms associated with albuminuria in Chinese type 2 diabetic patients.		106150	389	1	1998	 The high frequencies of the TT genotype and T allele in Chinese populations may contribute to the high prevalence of albuminuria in patients with type 2 diabetes. The possibility of synergism between the AGT TT genotype and the ACE D allele should also be explored.											
116096	Y	myocardial ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Babunova NB et al. 2003	12624946				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Russian	Moscow	KGB	183	Hs.19383			Molekuliarnaia biologiia. 2003 Jan-Feb;37(1):57-60	Association of the T174M and M235T polymorphisms of the angiotensinogen gene with myocardial ischemia in the Russian population of the city of Moscow trans Assotsiatsiia polimorfnykh markerov T174M i M235T gena angiotenzinogena s ishemicheskoi bolezn'iu		106150	382	1	2003												
116097	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Carotid Stenosis|Arteriosclerosis|Hypertension	1	1q42-q43	AGT	228904891	228916564	n	Barley J et al. 1995	8523390				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Journal of human hypertension. 1995 Aug;9(8):681-3	Lack of association between angiotensinogen polymorphism (M235T) and cerebrovascular disease and carotid atheroma.		106150	383	1	1995												
116098		metamphetamine dependence	OTHER	OTH	Substance-Related Disorders	1	1q42-q43	AGT	228904891	228916564		Sery O et al. 2001	11300226				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Physiological research. 2001 ;50(1):43-50	The association study of DRD2 ACE and AGT gene polymorphisms and metamphetamine dependence.		106150	384	1	2001												
116092	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Hegele RA et al. 1994	7955175				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Circulation. 1994 Nov;90(5):2207-12	A polymorphism of the angiotensinogen gene associated with variation in blood pressure in a genetic isolate.		106150	378	1	1994												
116094		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Russ AP et al. 1993	8518804				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Human molecular genetics. 1993 May;2(5):609-10	Rapid detection of the hypertension-associated Met235-->Thr allele of the human angiotensinogen gene.		106150	380	1	1993												
116095	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564	n	Rotimi C et al. 1994	7960018				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Nigeria|Chicago	KGB	183	Hs.19383			Hypertension. 1994 Nov;24(5):591-4	Angiotensinogen gene in human hypertension. Lack of an association of the 235T allele among African Americans.		106150	381	1	1994												
116089	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q42-q43	AGT	228904891	228916564	n	Taylor A et al. 2001	11803527				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			American journal of medical genetics. 2001 Dec;105(8):761-4	Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.		106150	375	1	2001	Thus, these polymorphisms are unlikely to be associated with AD risk.	Case Alzheimer's dissease cases:Britain;Control matched controls										
116090	Y	hypertension	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	1	1q42-q43	AGT	228904891	228916564		Suzuki Y et al. 1999	10586529				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Hypertension in pregnancy. 1999 ;18(3):261-71	Is angiotensinogen gene polymorphism associated with hypertension in pregnancy?		106150	376	1	1999	 Hypertension in pregnancy cannot be predicted on the basis of the M235T variant of angiotensinogen gene alone. However, gestational hypertension is associated with combinations of other factors. In contrast, it is virtually impossible to predict the development of preeclampsia.											
116091	Y	diabetes, type 2	METABOLIC	MET	Kidney Diseases|Diabetic Nephropathies|Hypertension|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Freire MB et al. 1998	9535411				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Hypertension. 1998 Apr;31(4):896-9	Gender-specific association of M235T polymorphism in angiotensinogen gene and diabetic nephropathy in NIDDM.		106150	377	1	1998												
116084	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	1	1q42-q43	AGT	228904891	228916564		Sheu WH et al. 1998	9665229				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			American heart journal. 1998 Jul;136(1):125-31	Angiotensinogen gene polymorphism is associated with insulin resistance in nondiabetic men with or without coronary heart disease.		106150	370	1	1998	 We suggest that the angiotensinogen T174M allele might be associated with insulin resistance in nondiabetic men with and without CHD.											
116085	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Hypertension|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564	n	Schmidt S et al. 1996	8918618				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Nephrology, dialysis, transplantation. 1996 Sep;11(9):1755-61	Angiotensinogen gene M235T polymorphism is not associated with diabetic nephropathy. The Diabetic Nephropathy Study Group.		106150	371	1	1996	 The data argue against a role of the angiotensinogen gene M235T polymorphism in the manifestation of diabetic nephropathy or hypertension in diabetic patients.											
116087	Y	blood pressure phenotypes.	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Pereira AC et al. 2003	12511525				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Hypertension. 2003 Jan;41(1):25-30	Angiotensinogen 235T allele dosage is associated with blood pressure phenotypes.		106150	373	1	2003												
116081		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Wang WY et al. 1999	10528248				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	caucasian	Australia	KGB	183	Hs.19383			American journal of medical genetics. 1999 Nov;87(1):53-60	Exclusion of angiotensinogen gene in molecular basis of human hypertension: sibpair linkage and association analyses in Australian anglo-caucasians.		106150	367	1	1999												
116082	Y	hypertension	CARDIOVASCULAR	CARD	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Hypertension	1	1q42-q43	AGT	228904891	228916564		Kobashi G et al. 1999	10482871				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			American journal of medical genetics. 1999 Sep;86(3):232-6	Association of a variant of the angiotensinogen gene with pure type of hypertension in pregnancy in the Japanese: implication of a racial difference and significance of an age factor.		106150	368	1	1999												
116083	Y	immunoglobin A nephropathy	OTHER	OTH	Glomerulonephritis, IGA|Proteinuria|Disease Progression	1	1q42-q43	AGT	228904891	228916564		Pei Y et al. 1997	9259580				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	caucasian		KGB	183	Hs.19383			The Journal of clinical investigation. 1997 Aug;100(4):814-20	Association of angiotensinogen gene T235 variant with progression of immunoglobin A nephropathy in Caucasian patients.		106150	369	1	1997												
116076	Y	hypertension	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 1	1	1q42-q43	AGT	228904891	228916564		Rogus JJ et al. 1998	9461232				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Hypertension. 1998 Feb;31(2):627-31	Diabetic nephropathy is associated with AGT polymorphism T235: results of a family-based study.		106150	362	1	1998												
116077	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Meng H et al. 1996	9388959			promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 1996 Oct;18(5):343-7	Association of polymorphism in 5'-regulatory region of angiotensinogen gene with essential hypertension		106150	363	1	1996												
116079	Y	hypertension	CARDIOVASCULAR	CARD	Pre-Eclampsia	1	1q42-q43	AGT	228904891	228916564		Kobashi G et al. 1995	7775818				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Nippon Sanka Fujinka Gakkai zasshi. 1995 May;47(5):497-8	Association of pregnancy-induced hypertension with a molecular variant of angiotensinogen gene		106150	365	1	1995												
116073	N	nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564	n	Zychma MJ et al. 2000	11096141				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1965-70	Angiotensinogen M235T and chymase gene CMA/B polymorphisms are not associated with nephropathy in type II diabetes.		106150	359	1	2000	 Our study provided evidence against an association between angiotensinogen M235T or chymase gene CMA/B polymorphisms and the presence of incipient or overt nephropathy in Caucasian patients with type II diabetes.	Control:243 normoalbuminuric controls with long-duration diabetes were selected from a group of 941 type II diabetic patients with established renal status;Case:323/127 323 microalbuminuric and 127 overt proteinuric:cases										
116074	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q42-q43	AGT	228904891	228916564		Chen D et al. 1998	9621117				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		KGB	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 1998 Jun;15(3):133-5	A molecular variant of angiotensinogen gene is associated with myocardial infarction in Chinese		106150	360	1	1998	 There is a significant association between AGT gene 235TT genotype and MI, this genotype might be an independent risk for MI in Chinese population.											
116075	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Chistiakov DA et al. 1999	10546209				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Moscow	Moscow	KGB	183	Hs.19383			Molekuliarnaia biologiia. 1999 Jul-Aug;33(4):592-4	T174M polymorphism of angiotensinogen gene in Moscow population is associated with hypertension trans Polimorfizm T174M gena angiotenzinogena v moskovskoi populiatsii sviazan s gipertonicheskoi bolezn'iu.		106150	361	1	1999												
116070	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q42-q43	AGT	228904891	228916564	p<0.00001	Batalla A 2000	11106322	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			TJB	183	Hs.19383			Clinical chemistry. 2000 Dec;46(12):1910-5			106150	356	1	2000	 Our data suggest a synergistic effect between the APOE and AGT polymorphisms and early MI. The increased risk could be mediated in part through higher cholesterol concentrations among individuals who are AGT-TT + APOE epsilon4 allele carriers.	Case:220; Control:200										
116071	N	essential hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564	n	Matsubara M 2003	12661912				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KEW	183	Hs.19383	home blood pressure		Hypertension research. 2003 Jan;26(1):47-52			106150	357	1	2003												
116072		metamphetamine dependence	OTHER	OTH	Substance-Related Disorders	1	1q42-q43	AGT	228904891	228916564		Sery O et al. 2001	11300226				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Physiological research. 2001 ;50(1):43-50	The association study of DRD2 ACE and AGT gene polymorphisms and metamphetamine dependence.		106150	358	1	2001												
116066	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	p<=0.05	Olivieri O 2001	11393670	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Italian		TJB	183	Hs.19383			Journal of hypertension. 2001 May;19(5):879-84	Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease.		106150	352	1	2001	 AGT 235 T homozygous patients with multivessel CAD have an increased risk of myocardial infarction as compared with subjects with clinically similar phenotype but different genotype.	Control:245 Subjects with angiographically documented normal coronary arteries;Case:454 patients were candidates for coronary artery bypass grafting, having angiographically documented (mainly multi-vessel) CAD										
116067		Chronic Glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	1	1q42-q43	AGT	228904891	228916564		Buraczynska M 2001	11865575	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Polish		TJB	183	Hs.19383			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106150	353	1	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
116068		Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Ishikawa K 2001	11230286	M235T. T235. and T+31C			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese		TJB	183	Hs.19383			Hypertension. 2001 Feb;37(2):281-5			106150	354	1	2001												
116063	Y	End- Stage Renal Disease (ESRD)	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Lovati E 2001	11422735	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			TJB	183	Hs.19383			Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		106150	349	1	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
116064	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	n	Tiret L 2000	10636255	T174M and M235T polymorphisms			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			106150	350	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
116065	N	Left Ventricular Structure	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564	n	Linhart A 2000	10854008	M235 -->T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Blood pressure. 2000 ;9(1):47-51			106150	351	1	2000												
116060		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Dermatitis, Atopic|Hypersensitivity, Immediate	1	1q42-q43	AGT	228904891	228916564		Holla L 1999	10200023				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Czech		KGB	183	Hs.19383			The Journal of allergy and clinical immunology. 1999 Apr;103(4):702-8			106150	346	1	1999	 It follows that the examined polymorphisms in the genes for ACE, angiotensinogen, and ET-1 could participate in the etiopathogenesis of atopic diseases.											
116061	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	????????	Yang C 2000	10837512	A (-6) G polymorphism			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Tibetan	Tibet	TJB	183	Hs.19383			Zhonghua yi xue yi chuan xue za zhi. 2000 Jun;17(3):149-52			106150	347	1	2000	 Both Tibetan hypertensives and normotensives have higher frequency of A allele in AGT gene (-20) site. The higher frequency of G allele in the AGT gene (-6) site in Tibetan hypertension patients suggests that this allele may be the genetic susceptibility factor in the proceeding of essential hypertension in the Tibetan population.	Case:103; Control:82										
116062	N	Nonfamilial Hypertrophic or Dialated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomegaly|Cardiomyopathy, Dilated	1	1q42-q43	AGT	228904891	228916564	n	Yamada Y 1997	9270088	M235T and T174M			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese		KGB	183	Hs.19383			American journal of hypertension. 1997 Aug;10(8):921-8			106150	348	1	1997		Case:88; Control:122										
116056	Y	Bipolar Affective Disorder	PSYCH	PSY	Bipolar Disorder	1	1q42-q43	AGT	228904891	228916564	p=0.009	Meira- Lima IV 2000	11027844	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Brazilian		TJB	183	Hs.19383			Neuroscience letters. 2000 Oct;293(2):103-6			106150	342	1	2000		Case:115; Control:323										
116057	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1q42-q43	AGT	228904891	228916564	n	Ichihara S 1997	9313606	M235T and T174M			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			American heart journal. 1997 Aug;134(2 Pt 1):260-5			106150	343	1	1997		Case:327; Control:352										
116058	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction	1	1q42-q43	AGT	228904891	228916564	p=0.005	Rodriguez- Perez JC 2001	11345362	M235T			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Native Gran Canaria Island habitants (Spain) ??	Spain	TJB	183	Hs.19383			Journal of the American College of Cardiology. 2001 May;37(6):1536-42			106150	344	1	2001	 This study shows that genetic variation of the AGT (M235T), but not the ACE (I/D), genotypes contributes to the presence of CHD independently of blood pressure profile in a subset of the Spanish population with a high prevalence of cardiovascular disease.	Case:304; Control:315										
116052		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	16	16q22	AGRP	66073974	66075217		Loos, R. J.  et al. 2004	15597110				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1		Quebec	CDC GDPinfo	181	Hs.104633			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		602311	15120	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
116053	Y	body mass; glucose	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease|Body Weight	16	16q22	AGRP	66073974	66075217		Bonilla, C.  et al. 2005	16130030			promoter	Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1	West African		CDC GDPinfo	181	Hs.104633			International journal of obesity (2005). 2005	Agouti-related protein promoter variant associated with leanness and decreased risk for diabetes in West Africans.		602311	15121	2	2005	 Our results replicate previous findings and implicate the AGRP -38C/T SNP in the regulation of body weight in West Africans.											
116055	N	Blood Pressure	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564	n	Province MA 2000	10930184				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	African Americans. Caucasian. Chinese. and Japanese	United States|Taiwan	KGB	183	Hs.19383			Journal of hypertension. 2000 Jul;18(7):867-76			106150	341	1	2000	 AGT-6 has minimal to no effect on the inter-individual variation of blood pressure levels, and is at best a 'minor gene' for blood pressure in the population as a whole.											
116049	Y	body mass	METABOLIC	MET	Body Weight|Thinness	16	16q22	AGRP	66073974	66075217		Marks, D. L.  et al. 2004	15054840				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			CDC GDPinfo	181	Hs.104633			American journal of medical genetics Part A. 2004 Apr;126(3):267-71	Ala67Thr polymorphism in the Agouti-related peptide gene is associated with inherited leanness in humans.		602311	8551	2	2004	Thus, the Ala67Thr AGRP polymorphism is associated with lower body weight in humans, with the largest effect being observed on body FM. We did not observe any difference in the stability or cellular distribution of the mutant protein in a heterologous expression system, thus the mechanism of this effect requires further investigation.	Cohort 874 subjects of the Quebec family study 										
116050	Y	energy intake	NORMALVARIATION	NV		16	16q22	AGRP	66073974	66075217		Loos, R. J.  et al. 2005	16280444				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			CDC GDPinfo	181	Hs.104633			The American journal of clinical nutrition. 2005 Nov;82(5):1097-101	Two ethnic-specific polymorphisms in the human Agouti-related protein gene are associated with macronutrient intake.		602311	8552	2	2005	 The present study suggests that 2 ethnic-specific AGRP variants, previously shown to be associated with leanness in the HERITAGE Family Study, are also associated with macronutrient intake.											
116051	N	obesity	METABOLIC	MET	Obesity	16	16q22	AGRP	66073974	66075217		Dubern, B.  et al. 2001	11487744				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			CDC GDPinfo	181	Hs.104633			The Journal of pediatrics. 2001 Aug;139(2):204-9	Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children		602311	15119	2	2001	 MC4R mutations may be a non-negligible cause of severe obesity in children with variable expression and penetrance. Mutations in AGRP and alpha MSH genes were not among the causes of obesity in our population.	Control:283 non-obese subjects;Case:63 severely obses children										
116046	Y	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	16	16q22	AGRP	66073974	66075217		Vink T et al. 2001	11326303				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			KGB	181	Hs.104633			Molecular psychiatry. 2001 May;6(3):325-8	Association between an agouti-related protein gene polymorphism and anorexia nervosa.		602311	338	1	2001	These data indicate that variations of AGRP are associated with susceptibility for AN.	Control:244 100 German volunteers, 144 Dutch volunteers;Case:45 patients with Anorexia nervosa										
116047		obesity	METABOLIC	MET	Obesity	16	16q22	AGRP	66073974	66075217		Geller F 2004	14973783				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1	European		KGB	181	Hs.104633			American journal of human genetics. 2004 Mar;74(3):572-81	Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.		602311	339	1	2004												
116048	Y	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	16	16q22	AGRP	66073974	66075217		Vink, T.  et al. 2001	11326303				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			CDC GDPinfo	181	Hs.104633			Molecular psychiatry. 2001 May;6(3):325-8	Association between an agouti-related protein gene polymorphism and anorexia nervosa.		602311	8550	2	2001	These data indicate that variations of AGRP are associated with susceptibility for AN.	Control:244 100 German volunteers, 144 Dutch volunteers;Case:45 patients with Anorexia nervosa										
116043		glycogen storage disease	METABOLIC	MET	Glycogen Storage Disease Type III	1	1p21	AGL	100088227	100162167		Shen J et al. 1997	8990006				Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000642.1			KGB	178	Hs.904			Human mutation. 1997 ;9(1):37-40	A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.		610860	337	1	1997												
116044		glycogen storage disease type IIIA	METABOLIC	MET	Glycogen Storage Disease Type III	1	1p21	AGL	100088227	100162167		Santer, R.  et al. 2001	11378828				Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000642.1		Norway	CDC GDPinfo	178	Hs.904			European journal of human genetics. 2001 May;9(5):388-91	Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.		610860	15117	2	2001	We conclude that  due to a founder effect, the Faroe Islands have the highest prevalence of GSD IIIA world-wide. The detection of the molecular defect has facilitated the diagnosis and has offered the opportunity for prenatal diagnosis in this patient group.	Cohort 198 newborns German Cohort 272 neonates of the Faroese neonatal screening program Faroe Islands 										
116045		Crohn's disease; ulcerative colitis	IMMUNE	IMM		7	7p21.3	AGR2	16797959	16811133		Zheng, W.  et al. 2005	16222343				Anterior gradient 2 homolog (Xenopus laevis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006408.2			CDC GDPinfo	10551	Hs.530009			Genes and immunity. 2006 Jan;7(1):8-Nov	Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.		606358	15118	2	2005												
116041	Y	glycogen storage disease type III	OTHER	OTH	Glycogen Storage Disease Type III	1	1p21	AGL	100088227	100162167		Okubo M et al. 1996	8702417			splice variant	Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000642.1			KGB	178	Hs.904			Biochemical and biophysical research communications. 1996 Jul;224(2):493-9	A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III.		610860	335	1	1996												
116042	Y	glycogen storage disease	METABOLIC	MET	Glycogen Storage Disease Type III	1	1p21	AGL	100088227	100162167		Shen J et al. 1996	8755644				Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000642.1			KGB	178	Hs.904			The Journal of clinical investigation. 1996 Jul;98(2):352-7	Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.		610860	336	1	1996												
116038	Y	diabetic retinopathy.	RENAL	REN	Diabetic Retinopathy	6	6p21.3	AGER	32256723	32260001	0.04	Hudson BI et al. 2001, 50, 1505-11	11375354	-429 T/C, -374 T/A	Increased transcription with both -429C and -374A alleles	5'promoter	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasian		KGB	177	Hs.642645			Diabetes. 2001 Jun;50(6):1505-11	Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy.		600214	332	1	2001		Case:106 type 2 diabetics with retinopathy; Control:109 type 2 diabetics without retinopathy										
116039	Y	non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	6	6p21.3	AGER	32256723	32260001		Schenk S et al. 2001	11282423	-374 T/A & 63bp deletion		promoter	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	54 NSCLC patients and 59 non-cancer controls		KGB	177	Hs.642645			Lung cancer (Amsterdam, Netherlands). 2001 Apr;32(1):12-Jul	A novel polymorphism in the promoter of the RAGE gene is associated with non-small cell lung cancer.		600214	333	1	2001		Case:54 NSCLC patients; Control:59 non-cancer controls										
116040	N	Cardiovascular disease	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001		Hudson BI et al 1998	9648842	Gly82Ser		coding sequence	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasian and Asian		Barry Hudson	177	Hs.642645	Diabetic vascular disease		Diabetes. 1998 Jul;47(7):1155-7	Identification of polymorphisms in the receptor for advanced glycation end products (RAGE) gene: prevalence in type 2 diabetes and ethnic groups		600214	334	1	1998		Case:258; Control:196 + 156										
116036	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Vitreoretinopathy, Proliferative|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	AGER	32256723	32260001	ns	Globocnik Petrovic M 2003	14704946	- 429 T/C and - 374 T/A		5'promoter	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasian		Y Wang	177	Hs.642645	diabetic retinopathy		Klin Monatsbl Augenheilkd. 2003 Dec;220(12):873-6	The - 429 T/C and - 374 T/A gene polymorphisms of the receptor of advanced glycation end products gene are not risk factors for diabetic retinopathy in Caucasians with type 2 diabetes.		600214	330	1	2003	 Our study failed to demonstrate an association between either - 429 T/C or - 374 T/A gene polymorphism of the RAGE gene and diabetic retinopathy in Caucasians with type 2 diabetes. Additionally, we failed to demonstrate an association between either - 429 T/C or - 374 T/A gene polymorphism of the RAGE gene and proliferative diabetic retinopathy in Caucasians with type 2 diabetes.	Case:116 type 2 diabetic with retinopathy; Control:70 type 2 diabetic without retinopathy										
116037	Y	Type 2 Diabetes (Retinopathy)	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	0.03	Kumaramanickavel G et al. 2002	12477623	Ser 82 allele	Not done	coding sequence	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Asian Indian population	India	KGB	177	Hs.642645	diabetic retinopathy		Journal of diabetes and its complications. 2002 Nov-Dec;16(6):391-4	Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy in type II diabetic Asian Indian patients.		600214	331	1	2002		Case:100 (Diabetic retinopathy); Control:100 (Diabetic non-retinopathy)										
116032	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Skin Diseases|Psoriasis|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	0.002	Kankova K et al. 1999	10526746	G82S	non-synonymous substitution	coding sequence	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasians	Czech Republic	KGB	177	Hs.642645	diabetic dermatoses		Diabetes care. 1999 Oct;22(10):1745	Association of G82S polymorphism in the RAGE gene with skin complications in type 2 diabetes.		600214	326	1	1999		Case:88; Control:90										
116033	Y	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Skin Diseases|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	AGER	32256723	32260001	0.0065	Kankova K et al. 2001	11457670	G82S, 1704G/T, 2184A/G			Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasians	Czech Republic	KGB	177	Hs.642645	diabetic dermatoses		Journal of diabetes and its complications. 2001 Jul-Aug;15(4):185-92	Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM.		600214	327	1	2001		Case:165; Control:225										
116034	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	ns	JiXiong X 2003	12941744	-374 T/A & -429 T/C		5'promoter	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Chinese	China	Y Wang	177	Hs.642645	diabetic retinopathy		Diabetes care. 2003 Sep;26(9):2696-7	-429T/C and -374T/A polymorphisms of RAGE gene promoter are not associated with diabetic retinopathy in Chinese patients with type 2 diabetes.		600214	328	1	2003		Case:205 type 2 diabetic with retinopathy; Control:152 type 2 diabetic without retinopathy										
116029	Y	proteinuria and cardiovascular disease	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Proteinuria|Albuminuria|Cardiovascular Diseases|Diabetes Mellitus, Type 1	6	6p21.3	AGER	32256723	32260001	0.01	Pettersson-Fernholm K et al. 2003	12606536	-429 T/C, -374 T/A & Gly82Ser			Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Finnish	Finland	KGB	177	Hs.642645			Diabetes. 2003 Mar;52(3):891-4	The functional -374 T/A RAGE gene polymorphism is associated with proteinuria and cardiovascular disease in type 1 diabetic patients.		600214	323	1	2003												
116030	Y	antioxidant status	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	<0.05	Kankova K et al. 2001	11586486	1704G/T, 2184A/G	intron	other	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasians		KGB	177	Hs.642645	plasma levels of antioxidants		Metabolism:  clinical and experimental. 2001 Oct;50(10):1152-60	Polymorphisms 1704G/T and 2184A/G in the RAGE gene are associated with antioxidant status.		600214	324	1	2001		Case:202; Control:169										
116031	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	n	Pulkkinen A et al. 2000	10841016	Gly82Ser			Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Finnish	Finland	KGB	177	Hs.642645			Diabetes care. 2000 Jun;23(6):864	Gly82Ser polymorphism of the receptor of advanced glycation end product gene is not associated with coronary heart disease in Finnish nondiabetic subjects or in patients with type 2 diabetes.		600214	325	1	2000												
116026	Y	bilateral hand osteoarthritis	OTHER	OTH	Osteoarthritis|Osteoarthritis, Knee	15	15q26.1	AGC1	87147677	87219589		Horton WE 1998	9876393	. the presence of allele 27 was associated with bilateral hand OA			Aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001135.1			KGB	176	Hs.2159			Osteoarthritis and cartilage. 1998 Jul;6(4):245-51			155760	320	1	1998	 These data demonstrate the first association between a human aggrecan gene polymorphic allele and hand OA. This finding supports the concept that genetic factors may play a role in the development and/or progression of some forms of age-onset OA.											
116027	Y	lumbar disc degeneration	OTHER	OTH		15	15q26.1	AGC1	87147677	87219589		Kawaguchi Y et al. 1999	10626307				Aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001135.1			KGB	176	Hs.2159			Spine. 1999 Dec;24(23):2456-60	Association between an aggrecan gene polymorphism and lumbar disc degeneration.		155760	321	1	1999	 The current study showed that multilevel and severe disc degeneration was present in the participants with shorter variable numbers of tandem repeat length of the aggrecan gene. This suggests that subjects with shorter variable numbers of tandem repeat length of the aggrecan gene have a risk of having multilevel disc degeneration develop at an early age.											
116028	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	ns	Kankova K et al. 2002	11884895				Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasians		KGB	177	Hs.642645	diabetic retinopathy		Retina (Philadelphia, Pa). 2002 Feb;22(1):119-21	Polymorphisms 1704G/T 2184A/G and 2245G/A in the rage gene are not associated with diabetic retinopathy in NIDDM: pilot study.		600214	322	1	2002		Case:75; Control:456										
116022		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p12-p11.2	ADRB3	37939672	37943341		Liang, Y.  et al. 2004	15079793				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese		CDC GDPinfo	155	Hs.2549			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):124-7	[The genotype analysis of beta adrenergic receptor gene family in high risk population of hypertension in northeast China]		109691	23976	2	2004	 In this study, Arg389Gly polymorphism of beta(1)-AR was involved in the pathogenesis of hypertension. Individuals homozygous for the Gly389 allele of the beta(1)-AR are at increased risk of developing hypertension.	Case:144:hypertensives;Control:174:normotensives										
116023		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	8	8p12-p11.2	ADRB3	37939672	37943341		Zee, R. Y.  et al. 2002	12082592				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		109691	25821	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
116025		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	8	8p12-p11.2	ADRB3	37939672	37943341		Matayoshi, T.  et al. 2004	15824464				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		109691	27890	2	2004			thiazide diuretics									
116019		heart rate, resting	CARDIOVASCULAR	CARD	Hypertension	8	8p12-p11.2	ADRB3	37939672	37943341		Ranade, K.  et al. 2002	11854867				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		China|Japan	CDC GDPinfo	155	Hs.2549			American journal of human genetics. 2002 Apr;70(4):935-42	A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate.		109691	23973	2	2002	The data support an additive model in which individuals heterozygous for the Ser49Gly polymorphism had mean heart rates intermediate to those of either type of homozygote, with Ser homozygotes having the highest mean heart rate and with Gly homozygotes having the lowest. Neither the Arg389Gly polymorphism in the beta1 adrenergic receptor nor polymorphisms in the beta2 and beta3 adrenergic receptors were associated with resting heart rate. The heritability of heart rate was 39.7% 7.1% (P<10-7).	Cohort A cohort of >1,000 individuals of Chinese and Japanese descent, from nuclear families 	alcohol beta blockers physical activity smoking (tobacco)									
116020		cardiomyopathy; heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure|Disease Progression	8	8p12-p11.2	ADRB3	37939672	37943341		Forleo, C.  et al. 2004	15464701				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Italy	CDC GDPinfo	155	Hs.2549			The American journal of medicine. 2004 Oct;117(7):451-8	Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.		109691	23974	2	2004	 The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1- and beta2-adrenergic receptor genes are modifier genes.	Cohort 171 consecutive patients (mean [+/- SD] age, 49 +/- 14 years; 129 men) with idiopathic dilated cardiomyopathy who were receiving conventional treatment 										
116021	N	body mass; obesity, localized	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Terra, S. G.  et al. 2005	15917856				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			International journal of obesity (2005). 2005 Jul;29(7):746-54	Association between beta-adrenergic receptor polymorphisms and their G-protein-coupled receptors with body mass index and obesity in women: a reportfrom the NHLBI-sponsored WISE study.		109691	23975	2	2005	 Our study suggests that among American women with suspected coronary heart disease, polymorphisms in the betaARs and their G-protein-coupled receptors do not contribute to increased BMI, WHR, waist circumference, or obesity. Given that 50% of all women die from coronary heart disease, and a higher percentage have heart disease during their lifetime, our results are likely generalizable to many American women.	Case cases enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study:US;Control controls enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study										
116015		body mass; insulin; obesity; glucose	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Park, H. S.  et al. 2005	15959859				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Korea	CDC GDPinfo	155	Hs.2549			Journal of human genetics. 2005 ;50(7):365-9	Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18.3% of adolescent obesity variation.		109691	20329	2	2005												
116016		interstitial cystitis	INFECTION	INF	Cystitis, Interstitial	8	8p12-p11.2	ADRB3	37939672	37943341		Sugaya, K.  et al. 2002	12442007				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			The Journal of urology. 2002 Dec;168(6):2668-71	Molecular analysis of adrenergic receptor genes and interleukin-4/interleukin-4 receptor genes in patients with interstitial cystitis.		109691	23970	2	2002	 Variants of the ADRB2, ADRA1d and IL-4 genes may be related to a predisposition to interstitial cystitis.	Control:228:controls;Case:55 patients with interstitial cystitis										
116017		hyperuicemia	METABOLIC	MET	Insulin Resistance|Hyperuricemia	8	8p12-p11.2	ADRB3	37939672	37943341		Masuo, K.  et al. 2005	15939803				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Hypertension. 2005 Jul;46(1):144-50	Lys418Asn polymorphism of the alpha2-adrenoceptor gene relates to serum uric acid levels but not to insulin sensitivity.		109691	23971	2	2005												
116011		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	8	8p12-p11.2	ADRB3	37939672	37943341			16369102				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		109691	20324	2	2006			diet family history stress									
116012		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Warpeha, K. M.  et al. 2003	12724690				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		109691	20325	2	2003	Review article											
116014		obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	8	8p12-p11.2	ADRB3	37939672	37943341		Evans, D.  et al. 2001	11466580				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		109691	20328	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
116008	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Xiu, L. L.  et al. 2004	15061987				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Zhonghua yi xue za zhi. 2004 Mar;84(5):375-9	[Common variants in beta 3-adrenergic-receptor and uncoupling protein-2 genes are associated with type 2 diabetes and obesity]		109691	20068	2	2004	 The homozygote of UCP2 gene Ala55Val mutation significantly enhances the risks of diabetes and obesity. The homozygote of beta(3)-AR gene Trp64Arg mutation is related with diabetes. The accumulation of the effects of two micro-genes creates obvious phenotypic effects.	Case:173/119 type 2 diabetic (n=173) and obese (n=119) persons;Control:177 control subjects										
116009	N	obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Sui, Y.  et al. 2004	15192823				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese		CDC GDPinfo	155	Hs.2549			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):229-32	[Additive effects of the variants in the beta(3)-adrenergic receptor and uncoupling protein-2 genes on obesity in Chinese]		109691	20070	2	2004	 The homozygote of UCP2 gene Ala55Val mutation increases the risk of obesity. Though the UCP2 gene mutation alone or the ADR beta(3) gene mutation alone is not associated with obesity, the possible additive effects of the two micro-genes increase the occurring of obesity.	Case:119 obese subject with mean BMI (27.9+/-2.98)kg/m(2);Control:177 control subjects with mean BMI(21.9+/-1.9)kg/m(2)										
116010		atherosclerosis, coronary; metabolism disorders	CARDIOVASCULAR	CARD	Coronary Disease|Metabolic Syndrome X|Obesity|Weight Loss	8	8p12-p11.2	ADRB3	37939672	37943341		Kim, O. Y.  et al. 2004	14708035			promoter	Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):434-41	Additive effect of the mutations in the beta3-adrenoceptor gene and UCP3 gene promoter on body fat distribution and glycemic control after weight reduction in overweight subjects with CAD or metabolic syndrome.		109691	20078	2	2004	 All the four groups showed similar weight reduction after -300 kcal/d for 12 weeks. However, the beneficial effects on body fat distribution and glycemic control were greatest in the 'wild-type' group and smallest in 'both variants' group. In addition, these effects were less beneficial in carriers with beta3-AR gene variant than with UCP3 gene promoter variant.	Cohort 224 overweight-obese subjects with CAD or metabolic disorder 	diet	beta3-AR		UCP3					overweight/obese subjects	coronary artery disease or metabolic syndrome.
116005		diabetes, type 2; hyperglycemia; uric acid	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia	8	8p12-p11.2	ADRB3	37939672	37943341		Wang, G.  et al. 2002	12411100				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese		CDC GDPinfo	155	Hs.2549			Chinese medical journal. 2002 Sep;115(9):1308-11	Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus.		109691	17065	2	2002	 In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose. It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level. The presence of the Arg64 allele in the beta(3)-AR gene may predispose patients to higher serum uric acid level.	Case:102 type 2 diabetes cases;Control:102 spousal controls										
116006		hyperandrogenism; premature pubarche	METABOLIC	MET	Hirsutism|Puberty, Precocious|Hyperandrogenism|Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Witchel, S. F.  et al. 2001	11287026				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Fertility and sterility. 2001 Apr;75(4):724-30	Candidate gene analysis in premature pubarche and adolescent hyperandrogenism		109691	18708	2	2001	Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome.	Control:15 healthy control women;Case:29 adolescent girls with hyperandrogenism										
116007		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341		Watanabe, I.  et al. 2003	12732844				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	CDC GDPinfo	155	Hs.2549			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		109691	19657	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
116002		body mass; hypertension; insulin; lipids	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X	8	8p12-p11.2	ADRB3	37939672	37943341		Bendlova, B.  et al. 1999	15641247				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Vnitr Lek. 1999 May;45(5):267-72	[Mutation in the beta3-adrenergic receptor gene (Trp64Arg) does not influence insulin resistence, energy metabolism, fat distribution and lipid spectrum in young people. Pilot study]		109691	15116	2	1999	 Our pilot study does not confirm the influence of Trp64Arg mutation in heterozygous carriers on insulin resistance, energy metabolism and lipid spectrum.	Case:68 Czech juvenile hypertensive patients;Control:81 normotensive controls										
116003		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Coronary Artery Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Nakai, K.  et al. 2004	15193960				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Israel	CDC GDPinfo	155	Hs.2549			Life sciences. 2004 Jul;75(8):1003-10	Ethnic differences of coronary artery disease-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry.		109691	15304	2	2004	We demonstrated an ethnic difference of CAD-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry. Further study is necessary to prove causal relation with CAD-associated SNPs and the prevalence of CAD.	Cohort 94 Israeli healthy populations (47 Ashkenazi Jews and 47 Yemenite Jews) obtained from the National Laboratory for the Genetics of Israeli Populations 										
116004	Y	insulin resistance	METABOLIC	MET	Insulin Resistance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Mentuccia, D.  et al. 2002	11872697				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Diabetes. 2002 Mar;51(3):880-3	Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with theTrp64Arg variant of the beta-3-adrenergic receptor.		109691	16320	2	2002	This variant strongly associates with insulin resistance and, in subjects with the Trp64Arg ADRB3 variant, an increased BMI, suggesting an interaction between these two common gene variants.	Cohort 972 nondiabetic patients, 135 of whom underwent euglycemic-hyperinsulinemic clamps 										
115998		obesity	METABOLIC	MET	Metabolic Diseases|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Zhu, L.  et al. 2002	12133431				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Apr;41(4):224-8	[Investigation and comparison of the beta(3)-adrenergic receptor gene Trp64Arg mutation in simple obesity and metabolic syndrome]		109691	15112	2	2002	 Trp64Arg mutation of beta(3)-AR gene may be used as a genetic marker for MS in male.	Control:175 healthy non-obese subjects;Case:295/219 subjects with simple obesity (n=295) and subjects with metabolic syndrome (n=219)										
115999		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Chen, Y.  et al. 2002	12410955				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		China	CDC GDPinfo	155	Hs.2549			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2002 May;36(3):191-4	A study on the relationship between genetic and environmental factors of type 2 diabetes mellitus in humans.		109691	15113	2	2002	 Type 2 diabetes mellitus is caused by the effect of both genetic and environmental factors.	Control:130 healthy controls;Case:154 type 2 diabetics Jiangsu Province	blood pressure family history physical activity									
116000		obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Wang, X.  et al. 2001	12561621				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Wei sheng yan jiu. 2001 Nov;30(6):359-61	[Mutation of beta 3-adrenergic-receptor gene and the response to dietary intervention in obese children]		109691	15114	2	2001	It was concluded that the Trp64Arg mutation of beta 3-adrenergic receptor gene might be one of the reasons why the effect of dietary intervention was poor in some obese children.	Control:11 subjects with no dietary intervention;Case:36 obese children who received dietary intervention	diet									
115995		obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Mo, B.  et al. 2001	11592045				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):371-4	[The role of beta3-adrenergic receptor Trp/Arg mutation in childhood obesity]		109691	15109	2	2001	 The children with beta3-AR Trp/Arg mutation may become obese because of the low energy metabolism; less active and exercise may increase the risk of obesity.	Cohort 177 children, aged 6-12 years 										
115996		obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Diabetes Complications	8	8p12-p11.2	ADRB3	37939672	37943341		Chen, Y.  et al. 2001	11769635				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2001 Sep;35(5):333-5	[Association of beta 3-adrenergic receptor gene with obesity in patients with type 2 diabetes mellitus]		109691	15110	2	2001	 The genetic mutation of beta 3-adrenegoc receptor in patients with type 2 diabetes is probably related to obesity.	Cohort 154 type 2 diabetic patients 										
115997	Y	body mass; cholesterol; diabetes, type 2; blood pressure	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	8	8p12-p11.2	ADRB3	37939672	37943341		Sun, L.  et al. 2000	11798745				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese	China|Japan	CDC GDPinfo	155	Hs.2549			Zhonghua yi xue za zhi. 2000 Feb;80(2):107-10	[Investigation and comparison of the beta3-adrenergic receptor gene Trp64Arg mutation in the Chinese and Japanese]		109691	15111	2	2000	 The Trp64Arg Department of Metabolic Diseases, Faculty of Medicine, University of Tokyo (Yoko Iizuka, Shun Ishibashi, Takanari Gotoda), Institute of Clinical Medicine University of Tsukuba, Tsukuba, Japan (Nobuhiro Yamada) mutation in beta 3-adrenergic receptor gene contributes to the increased body weight in the Chinese, especially in older women, but not in the Japanese, and to the lower plasma total cholesterol levels in both Chinese and Japanese men, and it potentially contributes to higher systolic blood pressure, faster heart rate and lower HDL-c as well.	Case:137 Chinese non-insulin diabetes mellitus patients;Case:371 Japanese outpatiens with diabetes or/and:hyperlipidemia;Control:614 non-diabetic Chinese individuals;Control:746 Japanese health check people										
115992		intrauterine growth; obesity; insulin resistance	REPRODUCTION	REP	Insulin Resistance|Obesity|Birth Weight	8	8p12-p11.2	ADRB3	37939672	37943341		Urhammer, S. A.  et al. 2000	10999801				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Danish	Denmark	CDC GDPinfo	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 2000 Sep;85(9):3151-4	Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Dani		109691	14599	2	2000	the present study failed to demonstrate an additive or synergistic effect of the Trp/Arg64 variant of the BAR gene and the -3826 A-->G variant of the UCP1 gene on the development of obesity and insulin resistance among randomly recruited Danish Caucasian subjects.	Cohort 379 unrelated young Caucasian subjects Danish 										
115993	Y	body mass; insulin; glucose	METABOLIC	MET	Diabetes Mellitus|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Shihara, N.  et al. 2001	11439286				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			International journal of obesity and related metabolic disorders. 2001 Jun;25(6):761-6	Synergistic effect of polymorphisms of uncoupling protein 1 and beta3-adrenergic receptor genes on autonomic nervous system activity.		109691	14601	2	2001	 While UCP1 polymorphism alone does not affect ANS activity, it has a synergistic effect with beta3AR polymorphism in decreasing sympathetic nervous system activity.	Cohort 349 young (mean age 20.4+/-2.1 y old), healthy Japanese males 										
115994	N	leptin levels	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Ramis, J. M.  et al. 2004	15536594	-3826G			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Spanish	Spain	CDC GDPinfo	155	Hs.2549			Metabolism:  clinical and experimental. 2004 Nov;53(11):1411-6	The Arg64 allele of the beta 3-adrenoceptor gene but not the -3826G allele of the uncoupling protein 1 gene is associated with increased leptin levels in the Spanish population.		109691	14607	2	2004	In conclusion, the beta(3)-AR Trp64Arg polymorphism might have an impact on the mechanisms involved in leptin release from adipose tissue. Furthermore, our results agree with the previously reported association between UCP1 -3826G allele and obesity and point to a gender-related effect.	Cohort 160/172 men (n=160) and women (n=172) randomly chosen from a nationwide population-based obesity cross-sectional survey Spain 										
115989		bone density	METABOLIC	MET		8	8p12-p11.2	ADRB3	37939672	37943341		Katsumata, K.  et al. 2002	11984699				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese		CDC GDPinfo	155	Hs.2549			Journal of bone and mineral metabolism. 2002 ;20(3):164-9	Association of gene polymorphisms and bone density in Japanese girls.		109691	13399	2	2002	These results suggest that the Fok I polymorphism of the VDR gene and the Dra II polymorphism of the PTH gene are risk factors for low bone density in Japanese girls.	Cohort 125 healthy Japanese girls (age, 13.4 +/- 0.89 years; range, 12-15 years) 										
115990		obesity	METABOLIC	MET	Obesity, Morbid	8	8p12-p11.2	ADRB3	37939672	37943341		Koumanis, D. J.  et al. 2002	12568179				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Obesity surgery. 2002 Dec;12(6):759-64	Pilot study examining the frequency of several gene polymorphisms in a morbidly obese population.		109691	13536	2	2002	 These results underscore the relationship between gene polymorphisms and obesity. Obese individuals may differ from non-obese individuals in the gene polymorphisms associated with metabolic control.	Control:102 controls with a BMI < 30 attending a Lipid Clinic;Case:126 individuals with a BMI > 40 in the McGill University Health Centre Bariatric Surgery Program										
115991		body mass; glucose tolerance; insulin; blood pressure; C-peptide; HbA1c	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Gain	8	8p12-p11.2	ADRB3	37939672	37943341		Sivenius, K.  et al. 2000	10805511				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Finnish		CDC GDPinfo	155	Hs.2549			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):514-9	Synergistic effect of polymorphisms in uncoupling protein 1 and beta3-adrenergic receptor genes on long-term body weight change in Finnish type 2 diabetic and non-diabetic control subjects		109691	14598	2	2000	 The simultaneous existence of the two polymorphisms was associated with a tendency to gain weight suggesting a synergistic effect of these polymorphisms on body weight gain.	Control:123 non-diabetic control subjects;Case:70 newly diagnosed, middle-aged type 2 diabetic:patients eastern Finland		beta3AR	Trp64Arg	UCP1	-3826 A-->G			Y	weigth change	diabetes
115986		glucose; insulin resistance	METABOLIC	MET	Hyperglycemia|Insulin Resistance	8	8p12-p11.2	ADRB3	37939672	37943341		Ishii, T.  et al. 2001	11699048	A54T			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese		CDC GDPinfo	155	Hs.2549			Metabolism:  clinical and experimental. 2001 Nov;50(11):1301-7	Effects of intestinal fatty acid-binding protein gene Ala54Thr polymorphism and beta3-adrenergic receptor gene Trp64Arg polymorphism on insulin resistance and fasting plasma glucose in young to older Japanese men.		109691	10532	2	2001	In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymorphism in terms of type 2 diabetes or hyperlipidemia in young to older Japanese men. However, a slight but significant increase in FPG was observed in older Japanese men with the FABP2 Thr/Thr genotype. Copyright 2001 by W.B. Saunders Company	Case:122 older hyperglycemic men, including 77 type 2 diabetic patients;Control:186 older normoglycemic men (fasting plasma glucose [FPG] < 110 mg/dL) aged 40 to 65 years;Control:196 young men aged 21 to 39 years;Control:204 normolipidemic subjects;Case:27 hyperlipidemic subjects										
115987		weight gain	METABOLIC	MET	Weight Gain|Schizophrenia	8	8p12-p11.2	ADRB3	37939672	37943341		Tsai, S. J.  et al. 2004	15179018	825C/T			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Neuropsychobiology. 2004 ;50(1):37-40	Association study of adrenergic beta3 receptor (Trp64Arg) and G-protein beta3 subunit gene (C825T) polymorphisms and weight change during clozapine treatment.		109691	10855	2	2004	Further exploration of other genetic variants implicated in clozapine-induced BWC is important, however, in order to predict and reduce clozapine-associated weight gain.	Cohort 87 treatment-resistant schizophrenic patients 										
115988		hypertension	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Hypertension	8	8p12-p11.2	ADRB3	37939672	37943341		Terajima, S.  et al. 2005	15915764				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	CDC GDPinfo	155	Hs.2549			Rinsho byori The Japanese journal of clinical pathology. 2005 Apr;53(4):290-6	[Relationship between of carotid ultrasonography in Japanese hypertensive subjects for intima-media thickness and plaque, and candidate gene polymorphism--possibility of early detection of arteriosclerotic disease]		109691	11479	2	2005	It is suggested that increase of IMT and formation of plaque are risk factors in patients aged 50 or above with hypertension, and that careful observation of the carotid artery will be effective for early detection of arteriosclerosis, and to predict the symptoms thereof.	Case:273 hypertensive subjects;Control:500 healthy controls										
115983	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Babol, K.  et al. 2004	15743038				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Journal of experimental & clinical cancer research. 2004 Dec;23(4):669-74	An association between the Trp64Arg polymorphism in the beta3-adrenergic receptor gene and endometrial cancer and obesity.		109691	8548	2	2004	The prevalence of the Arg allele of the Trp64Arg polymorphism in the beta3-adrenergic receptor gene may contribute to the susceptibility to endometrial cancer among obese/overweight individuals.	Case:79 endometrial cancer patients;Control:90 controls without cancer	obesity									
115984		liver disease	METABOLIC	MET	Liver Diseases|Fatty Liver|Metabolic Syndrome X	8	8p12-p11.2	ADRB3	37939672	37943341		Murata, C.  et al. 2003	14506613				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Metabolism:  clinical and experimental. 2003 Sep;52(9):1096-101	Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association withelevated liver enzymes and metabolic syndrome.		109691	8621	2	2003	In conclusion, evaluating the genotype of ALDH2 and beta3-AR may assist in predicting and preventing the development of fatty liver which may be related to multiple risk factor syndrome.	Cohort 148 male workers 35 years of age 										
115985	Y	weight gain	METABOLIC	MET	Weight Gain	8	8p12-p11.2	ADRB3	37939672	37943341		Koda, M.  et al. 2004	15340101				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Obesity research. 2004 Aug;12(8):1212-6	Association of cholecystokinin 1 receptor and beta3-adrenergic receptor polymorphisms with midlife weight gain		109691	9039	2	2004	These results suggest that the combination of CCK1R and the beta3-AR polymorphisms is a contributing factor for midlife weight gain in men.	Cohort 1,012 Japanese men and women (40 to 59 years of age) 		CCK123R		beta3-AR				Y		weight gain in men
115979	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341	p<0,05	Vendrel et al, Clin Endocrinol (Oxf). 1998 Nov;49(	10197086			coding sequence	Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Caucasic		Montserrat Broch	155	Hs.2549			Clinical endocrinology. 1998 Nov;49(5):679-83	Beta 3-adrenoreceptor gene polymorphism and leptin. Lack of relationship in type 2 diabetic patients.		109691	318	1	1998	 The Trp64Arg mutation is not a major determinant of Type 2 diabetes and its microangiopathic complications. Moreover, this mutation was not clinically relevant in leptin regulation.	Case:187; Control:110										
115980	Y	obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Kawamura T et al. 2001	11532330				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	California|Hawaii|Japan	KGB	155	Hs.2549			Diabetes research and clinical practice. 2001 Oct;54(1):49-55	Beta(3)-adrenergic receptor gene variant is associated with upper body obesity only in obese Japanese-American men but not in women.		109691	319	1	2001												
115981	Y	insulin	METABOLIC	MET		8	8p12-p11.2	ADRB3	37939672	37943341		Li, Q. N.  et al. 2004	15489932				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Beijing da xue xue bao Yi xue ban. 2004 Oct;36(5):505-9	[A twin study of association of beta3AR Trp64Arg polymorphisms with insulin sensitivity.]		109691	8546	2	2004	 The presence of the Arg64 allele in beta3AR gene may predispose patients to insulin resistance, and further study with larger sample size may help to confirm the result.	Cohort 88 pairs of dizygotic twins 										
115975		Preeclampsia	OTHER	OTH	Pre-Eclampsia|Birth Weight	8	8p12-p11.2	ADRB3	37939672	37943341		Malina AN 2004	15042014				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			American journal of obstetrics and gynecology. 2004 Mar;190(3):779-83	The Trp64Arg polymorphism of the beta3-adrenergic receptor is not increased in women with preeclampsia.		109691	314	1	2004	 The Trp64Arg polymorphism of the beta(3)-receptor does not predispose to preeclampsia, and it is it not associated with obesity and carbohydrate intolerance in a population of young pregnant women.											
115977		obesity	METABOLIC	MET	Hypertension|Obesity|Body Weight	8	8p12-p11.2	ADRB3	37939672	37943341		Hao K 2004	14742851				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		China	KGB	155	Hs.2549			Obesity research. 2004 Jan;12(1):125-30	beta(3) Adrenergic receptor polymorphism and obesity-related phenotypes in hypertensive patients.		109691	316	1	2004												
115978	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341		Carlsson M 2001	11380082	Trp64Arg			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Sweden	Y Wang	155	Hs.2549	elevated serum NEFA concentrations		Diabetologia. 2001 May;44(5):629-36	Common variants in the beta2-(Gln27Glu) and beta3-(Trp64Arg)--adrenoceptor genes are associated with elevated serum NEFA concentrations and type II diabetes.		109691	317	1	2001												
115971		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Weight Loss	8	8p12-p11.2	ADRB3	37939672	37943341		Sakane N 1997	9405912				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			Y Wang	155	Hs.2549	obesity		Diabetes care. 1997 Dec;20(12):1887-90	Effects of Trp64Arg mutation in the beta 3-adrenergic receptor gene on weight loss, body fat distribution, glycemic control, and insulin resistance in obese type 2 diabetic patients.		109691	310	1	1997	 These present findings show that the Trp64Arg allele of the beta 3-adrenergic receptor gene may predict difficulty in losing body weight, lowering WHR, and improving glycemic control and insulin resistance in obese patients with type 2 diabetes.											
115972		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Silver K 1996	8923875				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese	Micronesia	Y Wang	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 1996 Nov;81(11):4155-8	Molecular scanning for mutations in the beta 3-adrenergic receptor gene in Nauruans with obesity and noninsulin-dependent diabetes mellitus.		109691	311	1	1996												
115973	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Oizumi T 2001	11522702	Arg/Arg			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	Y Wang	155	Hs.2549	obesity		Diabetes care. 2001 Sep;24(9):1579-83	Genotype Arg/Arg, but not Trp/Arg, of the Trp64Arg polymorphism of the beta(3)-adrenergic receptor is associated with type 2 diabetes and obesity in a large Japanese sample.		109691	312	1	2001	 Genotype Arg/Arg, but not Trp/Arg, of the beta(3)-adrenergic receptor was associated with both obesity and type 2 diabetes in a large Japanese sample.											
115967		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Walston J1995	7609750				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Pima Indians	United States	Y Wang	155	Hs.2549			The New England journal of medicine. 1995 Aug;333(6):343-7	Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene.		109691	306	1	1995	Pima subjects homozygous for the Trp64Arg beta 3-adrenergic-receptor mutation have an earlier onset of NIDDM and tend to have a lower resting metabolic rate. This mutation may accelerate the onset of NIDDM by altering the balance of energy metabolism in visceral adipose tissue.											
115968		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hyperlipidemias|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Zhang Y 1996	8960833				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Caucasian	Great Britain	Y Wang	155	Hs.2549	Complications		Diabetologia. 1996 Dec;39(12):1505-11	UKPDS 19: heterogeneity in NIDDM: separate contributions of IRS-1 and beta 3-adrenergic-receptor mutations to insulin resistance and obesity respectively with no evidence for glycogen synthase gene mutations. UK Prospective Diabetes Study.		109691	307	1	1996												
115970		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341		Sakane N 1997	9313761				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese		Y Wang	155	Hs.2549	Complications		Diabetes. 1997 Oct;46(10):1633-6	Beta 3-adrenoreceptor gene polymorphism: a newly identified risk factor for proliferative retinopathy in NIDDM patients.		109691	309	1	1997												
115963	N	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341	n	Baba T et al. 1998	9851671				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Horm Metab Res. 1998 Oct;30(10):629-32	Beta3-adrenergic receptor gene polymorphism is not associated with hypertension in NIDDM patients without nephropathy.		109691	302	1	1998	 These results suggest that a Trp64Arg mutation in the beta3-adrenergic receptor gene is not associated with hypertension in Japanese NIDDM patients without nephropathy.											
115964		elevated liver enzymes and metabolic syndrome	METABOLIC	MET	Liver Diseases|Fatty Liver|Metabolic Syndrome X	8	8p12-p11.2	ADRB3	37939672	37943341		Murata C 2003	14506613				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Metabolism:  clinical and experimental. 2003 Sep;52(9):1096-101	Aldehyde dehydrogenase 2 and beta3-adrenergic receptor gene polymorphisms: their association with elevated liver enzymes and metabolic syndrome.		109691	303	1	2003	In conclusion, evaluating the genotype of ALDH2 and beta3-AR may assist in predicting and preventing the development of fatty liver which may be related to multiple risk factor syndrome.	Cohort 148 male workers 35 years of age										
115966		eating behavior	OTHER	OTH	Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Aoyama M 2003	12943691	Trp64Arg and Arg64Arg		coding sequence	Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Japan	KGB	155	Hs.2549			Biochemical and biophysical research communications. 2003 Sep;309(1):261-5	Phenotypic linkage between single-nucleotide polymorphisms of beta3-adrenergic receptor gene and NADH dehydrogenase subunit-2 gene, with special reference to eating behavior.		109691	305	1	2003												
115959	Y	body mass index	METABOLIC	MET		8	8p12-p11.2	ADRB3	37939672	37943341		Fujisawa T et al. 1998	9661625				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 1998 Jul;83(7):2441-4	Meta-analysis of the association of Trp64Arg polymorphism of beta 3-adrenergic receptor gene with body mass index.		109691	298	1	1998	This is the first meta-analysis assessing quantitative phenotypes in relation to a genetic polymorphism, and the results support the hypothesis that the Trp64Arg polymorphism is associated with BMI across diverse population groups, suggesting that the beta 3-adrenergic receptor gene locus plays a role in genetic predisposition to increased body weight in a universal manner.											
115961		Obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Endo K 2000	10805501	Trp64Arg polymorphism			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	TJB	155	Hs.2549			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):443-9			109691	300	1	2000	 Trp64Arg polymorphism of the beta3-AR gene appears to be a genetic risk factor for obesity in Japanese children, but Gln223Arg polymorphism of the Ob-R gene does not appear to be associated with obesity.											
115962	N	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Body Weight	8	8p12-p11.2	ADRB3	37939672	37943341	n	Nagase T et al. 1997	9100608				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	KGB	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 1997 Apr;82(4):1284-7	Lack of association between the Trp64 Arg mutation in the beta 3-adrenergic receptor gene and obesity in Japanese men: a longitudinal analysis.		109691	301	1	1997												
115956	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Diabetes Complications	8	8p12-p11.2	ADRB3	37939672	37943341		Chen Y et al. 2001	11769635				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2001 Sep;35(5):333-5	Association of beta 3-adrenergic receptor gene with obesity in patients with type 2 diabetes mellitus		109691	295	1	2001	 The genetic mutation of beta 3-adrenegoc receptor in patients with type 2 diabetes is probably related to obesity.	Cohort 154 type 2 diabetic patients										
115957	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia	8	8p12-p11.2	ADRB3	37939672	37943341		Wang G et al. 2002	12411100				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Chinese medical journal. 2002 Sep;115(9):1308-11	Association of GYS1 and beta(3)-AR gene with postprandial hyperglycemia and serum uric acid in type 2 diabetes mellitus.		109691	296	1	2002	 In the Chinese population, Met416Val polymorphism is identified in a subgroup of diabetic subjects with high 2-hour post-glucose. It will explain why some diabetic patients appear to be genetically predisposed to developing high postpradial glucose level. The presence of the Arg64 allele in the beta(3)-AR gene may predispose patients to higher serum uric acid level.	Case:102 type 2 diabetes cases;Control:102 spousal controls										
115958	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Gain	8	8p12-p11.2	ADRB3	37939672	37943341		Fujisawa T et al. 1996	8721782	Trp64Arg			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		United States|Finland|France	KGB	155	Hs.2549			Diabetologia. 1996 Mar;39(3):349-52	Association of Trp64Arg mutation of the beta3-adrenergic-receptor with NIDDM and body weight gain.		109691	297	1	1996												
115951		autonomic nervous system activity	OTHER	OTH	Diabetes Mellitus	8	8p12-p11.2	ADRB3	37939672	37943341		Shihara N et al. 1999	10323390				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 1999 May;84(5):1623-7	The association between Trp64Arg polymorphism of the beta3-adrenergic receptor and autonomic nervous system activity.		109691	290	1	1999												
115952	Y	insulin resistance	METABOLIC	MET	Insulin Resistance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Kawamura T et al. 1999	10582543				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Hawaii	KGB	155	Hs.2549			Metabolism:  clinical and experimental. 1999 Nov;48(11):1367-70	Association of beta3-adrenergic receptor gene polymorphism with insulin resistance in Japanese-American men.		109691	291	1	1999												
115953	Y	coronary heart disease among Japanese.	CARDIOVASCULAR	CARD	Coronary Disease|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Higashi K et al. 1997	9126344				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	KGB	155	Hs.2549			Biochemical and biophysical research communications. 1997 Mar;232(3):728-30	Association of a genetic variation in the beta 3-adrenergic receptor gene with coronary heart disease among Japanese.		109691	292	1	1997												
115954	Y	obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Hoffstedt J et al. 1999	9892244				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Diabetes. 1999 Jan;48(1):203-5	Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function.		109691	293	1	1999												
115947	N	training-induced changes in BMI	OTHER	OTH		8	8p12-p11.2	ADRB3	37939672	37943341	n	Garenc C et al. 2001	11399779				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Obesity research. 2001 Jun;9(6):337-41	The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is not associated with training-induced changes in body composition: The HERITAGE Family Study.		109691	286	1	2001												
115949	Y	reduced low-density lipoprotein particle size	OTHER	OTH	Coronary Disease|Insulin Resistance	8	8p12-p11.2	ADRB3	37939672	37943341		Okumura K et al. 2003	12647276				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Metabolism:  clinical and experimental. 2003 Mar;52(3):356-61	The polymorphism of the beta3-adrenergic receptor gene is associated with reduced low-density lipoprotein particle size.		109691	288	1	2003												
115950	Y	features of the insulin resistance syndrome	OTHER	OTH	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Widen E et al. 1995	7609751				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Finland	KGB	155	Hs.2549			The New England journal of medicine. 1995 Aug;333(6):348-51	Association of a polymorphism in the beta 3-adrenergic-receptor gene with features of the insulin resistance syndrome in Finns.		109691	289	1	1995	The Trp64Arg allele of the beta 3-adrenergic receptor is associated with abdominal obesity and resistance to insulin and may contribute to the early onset of NIDDM.											
115944	Y	increased plasma leptin levels	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Lin SY et al. 1999	10502846				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese		KGB	155	Hs.2549			Zhonghua yi xue za zhi. 1999 Sep;62(9):569-76	Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated with increased plasma leptin levels in obese Chinese women.		109691	283	1	1999	 Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is not associated with obesity in Chinese women. Plasma leptin concentrations correlate well with BMI and total fat mass. For obese Chinese women, the Trp64Arg genotype of the beta 3-adrenergic receptor gene may contribute to an increased plasma leptin level.											
115945	N	coronary heart disease or insulin resistance	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2|Insulin Resistance	8	8p12-p11.2	ADRB3	37939672	37943341	n	Pulkkinen A et al. 1999	10421225				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			Metabolism:  clinical and experimental. 1999 Jul;48(7):853-6	The codon 64 polymorphism of the beta3-adrenergic receptor gene is not associated with coronary heart disease or insulin resistance in nondiabetic subjects and non-insulin-dependent diabetic patients.		109691	284	1	1999												
115946	Y	Body Mass Index	METABOLIC	MET		8	8p12-p11.2	ADRB3	37939672	37943341		Kurokawa N et al. 2001	11743057				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese		KGB	155	Hs.2549			Obesity research. 2001 Dec;9(12):741-5	Association of BMI with the beta3-adrenergic receptor gene polymorphism in Japanese: meta-analysis.		109691	285	1	2001												
115940	Y	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341		Ringel J et al. 2000	10981554				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			American journal of hypertension. 2000 Sep;13(9):1027-31	The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is associated with hypertension in men with type 2 diabetes mellitus.		109691	279	1	2000												
115941	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Kadowaki H et al. 1995	7487991				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese		KGB	155	Hs.2549			Biochemical and biophysical research communications. 1995 Oct;215(2):555-60	A mutation in the beta 3-adrenergic receptor gene is associated with obesity and hyperinsulinemia in Japanese subjects.		109691	280	1	1995												
115942	Y	obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Xinli W et al. 2001	11808891				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese	China	KGB	155	Hs.2549			Acta Paediatr. 2001 Nov;90(11):1233-7	Association of a mutation in the beta3-adrenergic receptor gene with obesity and response to dietary intervention in Chinese children.		109691	281	1	2001	 The Trp64Arg mutation of the beta3-adr gene may predict the result of dietary intervention in obese children to some extent, but it was not a major factor affecting weight in Chinese children.											
115936		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	5	5q31-q32	ADRB2	148186348	148188381		Matayoshi, T.  et al. 2004	15824464				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		109690	27685	2	2004			thiazide diuretics									
115937	N	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	8	8p12-p11.2	ADRB3	37939672	37943341	n	Sheu WH 1999	10337869	Trp64Arg polymorphism			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Chinese		KGB	155	Hs.2549			Metabolism:  clinical and experimental. 1999 May;48(5):651-4			109691	276	1	1999	We conclude that  Trp64Arg polymorphism of the beta3-adrenergic receptor gene does not likely play a major role in the development of CHD in the Chinese population. In addition, it appears to have no association with the insulin resistance syndrome in either CHD or non-CHD subjects.	Case:137; Control:188										
115938		Obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Arner P 1999	10395196	Gln27Glu polymorphism			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Caucasian and Japanese		TJB	155	Hs.2549			Journal of internal medicine. 1999 Jun;245(6):667-72			109691	277	1	1999												
115932		blood pressure; heart rate	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		McCaffery, J. M.  et al. 2002	12023679				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Journal of hypertension. 2002 Jun;20(6):1105-14	Variability within alpha- and beta-adrenoreceptor genes as a predictor of cardiovascular function at rest and in response to mental challenge.		109690	25819	2	2002	These results indicate that some polymorphic variation within adrenoreceptor genes contributes to interindividual variability in resting SBP and DBP and in DBP response to mental challenge.	Cohort 309 European-American, young adult men and women (including 101 monozygotic and 44 dizygotic twin pairs) 										
115933		blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Snapir, A.  et al. 2003	12519093				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Clin Sci (Lond).. 2003 May;104(5):509-20	Effects of common polymorphisms in the alpha 1A- alpha- 2B, beta 1-, and beta 2-adrenergic receptors on hemodynamic responses to adrenaline		109690	25820	2	2003	These results suggest that upon acute adrenaline infusion, the alpha 2B-AR D/D genotype confers increased vasoconstriction, and that the beta 2-AR GG genotype confers reduced vasodilatation.	Cohort 16 young, healthy men 	adrenaline									
115934		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Liljedahl, U.  et al. 2003	12544508				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		109690	26781	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115929		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	5	5q31-q32	ADRB2	148186348	148188381		Sunder-Plassmann, G.  et al. 2002	12394950				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		109690	23967	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
115930		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Turner, S. T.  et al. 2003	14553962				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			American journal of hypertension. 2003 Oct;16(10):834-9	Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide		109690	23968	2	2003	 Although we reject the null hypothesis of no genetic effects on BP response to hydrochlorothiazide, the influence of variation at single sites is likely to be small. More extensive characterization of genetic variation is required for pharmacogenetic approaches to become clinically useful in tailoring antihypertensive drug therapy for individual patients.	Cohort 291/294 unrelated non-Hispanic African American adults (n=291, 150 women and 141 men) and unrelated non-Hispanic white adults (n=294, 126 women and 168 men) who were between 30 and 59.9 years of age and who had essential hypertension. 	hydrochlorothiazide									
115931	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure	5	5q31-q32	ADRB2	148186348	148188381		Kaye, D. M.  et al. 2004	15542284				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Journal of the American College of Cardiology. 2004 Nov;44(10):2008-15	Interaction between cardiac sympathetic drive and heart rate in heart failure: modulation byadrenergic receptor genotype.		109690	23969	2	2004	 For the first time, we show that beta(2)-adrenoceptor polymorphisms significantly influence the relationship between heart rate and cardiac adrenergic drive in CHF, but do not affect the rate of norepinephrine release from sympathetic nerve terminals.	Cohort 60 patients with severe congestive heart failure 										
115926	N	body mass; obesity, localized	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Terra, S. G.  et al. 2005	15917856				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			International journal of obesity (2005). 2005 Jul;29(7):746-54	Association between beta-adrenergic receptor polymorphisms and their G-protein-coupled receptors with body mass index and obesity in women: a reportfrom the NHLBI-sponsored WISE study.		109690	20322	2	2005	 Our study suggests that among American women with suspected coronary heart disease, polymorphisms in the betaARs and their G-protein-coupled receptors do not contribute to increased BMI, WHR, waist circumference, or obesity. Given that 50% of all women die from coronary heart disease, and a higher percentage have heart disease during their lifetime, our results are likely generalizable to many American women.	Case cases enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study:US;Control controls enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study										
115927		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Liang, Y.  et al. 2004	15079793				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		CDC GDPinfo	154	Hs.591251			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):124-7	[The genotype analysis of beta adrenergic receptor gene family in high risk population of hypertension in northeast China]		109690	20323	2	2004	 In this study, Arg389Gly polymorphism of beta(1)-AR was involved in the pathogenesis of hypertension. Individuals homozygous for the Gly389 allele of the beta(1)-AR are at increased risk of developing hypertension.	Case:144:hypertensives;Control:174:normotensives										
115928		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	5	5q31-q32	ADRB2	148186348	148188381		Zee, R. Y.  et al. 2002	12082592				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		109690	23966	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
115923		acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction	5	5q31-q32	ADRB2	148186348	148188381		Lanfear, D. E.  et al. 2005	16189366				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			JAMA. 2005 Sep;294(12):1526-33	Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome.		109690	20319	2	2005	 Patients prescribed beta-blocker therapy after an ACS have differential survival associated with their ADRB2 genotypes. Further assessment of the benefits of beta-blocker therapy in high-risk genotype groups may be warranted.											
115924		heart rate, resting	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Ranade, K.  et al. 2002	11854867				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		China|Japan	CDC GDPinfo	154	Hs.591251			American journal of human genetics. 2002 Apr;70(4):935-42	A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate.		109690	20320	2	2002	The data support an additive model in which individuals heterozygous for the Ser49Gly polymorphism had mean heart rates intermediate to those of either type of homozygote, with Ser homozygotes having the highest mean heart rate and with Gly homozygotes having the lowest. Neither the Arg389Gly polymorphism in the beta1 adrenergic receptor nor polymorphisms in the beta2 and beta3 adrenergic receptors were associated with resting heart rate. The heritability of heart rate was 39.7% 7.1% (P<10-7).	Cohort A cohort of >1,000 individuals of Chinese and Japanese descent, from nuclear families 	alcohol beta blockers physical activity smoking (tobacco)									
115925	Y	cardiomyopathy; heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure|Disease Progression	5	5q31-q32	ADRB2	148186348	148188381		Forleo, C.  et al. 2004	15464701				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Italy	CDC GDPinfo	154	Hs.591251			The American journal of medicine. 2004 Oct;117(7):451-8	Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.		109690	20321	2	2004	 The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1- and beta2-adrenergic receptor genes are modifier genes.	Cohort 171 consecutive patients (mean [+/- SD] age, 49 +/- 14 years; 129 men) with idiopathic dilated cardiomyopathy who were receiving conventional treatment 										
115920		blood pressure, arterial	CARDIOVASCULAR	CARD	Tachycardia	5	5q31-q32	ADRB2	148186348	148188381		Nickander, K. K.  et al. 2005	15946904				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Autonomic neuroscience. 2005 Jun;120(2-Jan):97-103	A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome.		109690	20316	2	2005	 Of the candidate genes screened, none harbored a SNP considered to be causally related to POTS. There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling.											
115921		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	5	5q31-q32	ADRB2	148186348	148188381		Johnson, J. A.  et al. 2002	12523655				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Pharmaceutical research. 2002 Dec;19(12):1779-87	Beta-adrenergic receptor polymorphisms:cardiovascular disease associations and pharmacogenetics.		109690	20317	2	2002	Review article											
115922	N	heart rate; left ventricular funtion	CARDIOVASCULAR	CARD	Heart Failure	5	5q31-q32	ADRB2	148186348	148188381		de Groote, P.  et al. 2005	15861037				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Pharmacogenetics and genomics. 2005 Mar;15(3):137-42	Association between beta-1 and beta-2 adrenergic receptor gene polymorphisms and the response to beta-blockade in patients with stable congestive heart failure.		109690	20318	2	2005	There was no association between the five polymorphisms and heart rate or LVEF, either before or after beta-blockade. Heart rate and LVEF responses to beta-blockade were not associated with the beta1AR or the beta2AR polymorphisms. betaAR polymorphisms did not explain the interindividual variability in the response to beta-blockers.	Cohort 199 consecutive patients with stable congestive heart failure not treated with beta-blockers 	beta blockers									
115917		endurance	NORMALVARIATION	NV		5	5q31-q32	ADRB2	148186348	148188381		Wolfarth, B.  et al. 2000	11039642				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Medicine and science in sports and exercise. 2000 Oct;32(10):1709-12	A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status.		109690	20313	2	2000	 In summary, we found evidence that ADRA2A gene variability detected with Dra I is weakly associated with elite endurance athlete status, and we conclude that genetic variation in the ADRA2A gene or a locus in close proximity may play a role in being able to sustain the endurance training regimen necessary to attain a high level of maximal aerobic power.	Cohort 149 unrelated sedentary male subjects 										
115918		hyperuicemia	METABOLIC	MET	Insulin Resistance|Hyperuricemia	5	5q31-q32	ADRB2	148186348	148188381		Masuo, K.  et al. 2005	15939803				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Hypertension. 2005 Jul;46(1):144-50	Lys418Asn polymorphism of the alpha2-adrenoceptor gene relates to serum uric acid levels but not to insulin sensitivity.		109690	20314	2	2005												
115919		body mass	METABOLIC	MET		5	5q31-q32	ADRB2	148186348	148188381		Phares, D. A.  et al. 2004	15166301				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Obesity research. 2004 May;12(5):807-15	Association Between Body Fat Response to Exercise Training and Multilocus ADR Genotypes		109690	20315	2	2004	The body fat response to exercise training in older adults is associated with the combined effects of the Glu(12)/Glu(9) alpha2b-, Trp64Arg beta3-, and Gln27Glu beta2-ADR gene variants and their gene-gene interactions.	Cohort 70 healthy, sedentary men (n = 29) and postmenopausal women (n = 41) 50 to 75 years of age, with a BMI Washington, DC 										
115914		asthma; lipids; memory impairment	IMMUNE	IMM		5	5q31-q32	ADRB2	148186348	148188381		Hamdy, I.  et al. 2002	11956670				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			European journal of clinical pharmacology. 2002 Apr;58(1):29-36	Allele and genotype frequencies of polymorphic DCP1, CETP, ADRB2, and HTR2A in the Egyptian population.		109690	20310	2	2002	 We have explored the frequencies of important allelic variants DCP1, CETP, ADRB2, and HTR2A among the Egyptian population focusing on the ethnic diversity in the distribution of the tested mutant alleles. Our results may help in better understanding the observed ethnic variation in angiotensin-converting enzyme inhibition and atherosclerosis therapy. It also may contribute to better characterization of interethnic differences in isoprenaline and clozapine response, which will have implications for the cost effective and rational prescribing of these drugs.	Cohort 242 urelated individuals in the Egyptian population 										
115915		asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Dewar, J. C.  et al. 2003	12724032				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Great Britain	CDC GDPinfo	154	Hs.591251			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		109690	20311	2	2003	Review article											
115916	Y	interstitial cystitis	INFECTION	INF	Cystitis, Interstitial	5	5q31-q32	ADRB2	148186348	148188381		Sugaya, K.  et al. 2002	12442007				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			The Journal of urology. 2002 Dec;168(6):2668-71	Molecular analysis of adrenergic receptor genes and interleukin-4/interleukin-4 receptor genes in patients with interstitial cystitis.		109690	20312	2	2002	 Variants of the ADRB2, ADRA1d and IL-4 genes may be related to a predisposition to interstitial cystitis.	Control:228:controls;Case:55 patients with interstitial cystitis										
115911	Y	weight gain	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain	5	5q31-q32	ADRB2	148186348	148188381		van Rossum, C. T.  et al. 2002	12075579				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Dutch	Netherlands	CDC GDPinfo	154	Hs.591251			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):517-28	Genetic factors as predictors of weight gain in young adult Dutch men and women.		109690	20061	2	2002	 Only variations in the ADRB2 gene and LEPR gene, may contribute to susceptibility to weight gain. None of the other studied genetic markers were clearly associated with weight gain. Further research is necessary to establish the role of lifestyle factors, or interactions between genes or between genes and lifestyle factors on weight gain with age.	Case:286 subjects aged 20-40 y who gained an average of 12.8 kg (range 5.5-47 kg) during a mean follow-up of 6.8 y from two large cohorts in The Netherlands;Control:296 subjects who remained relatively constant over the same period										
115912		body mass; insulin; obesity; glucose	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Park, H. S.  et al. 2005	15959859				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Korea	CDC GDPinfo	154	Hs.591251			Journal of human genetics. 2005 ;50(7):365-9	Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18.3% of adolescent obesity variation.		109690	20073	2	2005												
115913		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	5	5q31-q32	ADRB2	148186348	148188381		Navarro-Lopez, F.   2002	11975906				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		109690	20309	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
115908		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Arnaiz, N. O.  et al. 2003	14655898				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Washington	CDC GDPinfo	154	Hs.591251			Archives of environmental health. 2003 Apr;58(4):197-200	Genetic factors and asthma in aluminum smelter workers		109690	16643	2	2003	The asthma-like condition associated with potroom work remains poorly understood. Future investigations of genetic susceptibility and occupational asthma may provide pathophysiologic insights into these work-related conditions, but larger numbers of subjects will be required.	Control smelter potroom workers who didn't develop respiratory problems;Case smelter potroom workers who developed asthma-like:conditions										
115909		stroke; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Hoppe, C.  et al. 2003	14615367				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Blood. 2004 Mar;103(6):2391-6	Gene interactions and stroke risk in children with sickle cell anemia.		109690	18000	2	2003	If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.	Cohort 230 children with sickle cell anemia 										
115910		insulin; lipoproteins	METABOLIC	MET		5	5q31-q32	ADRB2	148186348	148188381		Ukkola, O.  et al. 2001	11229437				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Metabolism:  clinical and experimental. 2001 Feb;50(2):246-52	Interactions among the glucocorticoid receptor, lipoprotein lipase, and adrenergic receptor genes and plasma insulin and lipid levels in the Quebec Family Study		109690	18707	2	2001	multiple interactions among GRL, LPL, and ADR gene markers contribute to insulin metabolism and perhaps to lipid levels, while no significant effect is found for each gene separately. The LPL locus appears to determine the pattern of interactions with ADR and GRL loci. These results suggest that gene-gene interaction effects could play a role in the etiology of risk factors for common chronic diseases.	Cohort 742 individuals from phase 2 of the Quebec Family Study (QFS) cohort 										
115905		asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Lee, D. K.  et al. 2004	14678347				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			British journal of clinical pharmacology. 2004 Jan;57(1):100-4	Acute systemic effects of inhaled salbutamol in asthmatic subjects expressing common homozygous beta2-adrenoceptor haplotypes at positions 16 and 27.		109690	15105	2	2004	 Caucasian asthmatic subjects with the Arg16-Gln27 haplotype exhibited a greater systemic response to inhaled salbutamol, compared with those with the Gly16-Glu27 haplotype. The attenuated beta2-adrenoceptor response in the Gly16-Glu27 haplotype would be in keeping with increased susceptibility to prior down-regulation by endogenous catecholamines.	Cohort 531 asthmatic subjects 										
115906	Y	asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Dai, L. M.  et al. 2004	14981808				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Sichuan da xue xue bao Yi xue ban. 2004 Jan;35(1):32-4	[Relationship between the locus 16 geontype of beta 2 adrenergic receptor and the nocturnal asthma phenotype]		109690	15106	2	2004	 The Gly16 polymorphism of beta 2 AR appears to be associated with nocturnal asthma.	Cohort 49 nocturnal asthamtics (n=25) and non-nocturnal asthmatics (n=24) 										
115907		obesity	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Jiao, H.  et al. 2005	16286511				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Swedish	Sweden	CDC GDPinfo	154	Hs.591251			Obesity research. 2005 Oct;13(10):1645-50	A Common {beta}2-Adrenoceptor Gene Haplotype Protects against Obesity in Swedish Women.		109690	15108	2	2005												
115902		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Leung, T. F.  et al. 2002	12422339				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese	China	CDC GDPinfo	154	Hs.591251			Pediatric pulmonology. 2002 Dec;34(6):419-24	Distribution in allele frequencies of predisposition-to-atopy genotypes in Chinese children.		109690	11836	2	2002	Our results demonstrate ethnic differences in polymorphisms of atopy candidate genes. Additional studies involving larger samples are required to investigate the association between asthma or atopy and the genotypes studied to date in Chinese children.	Case:67 Chinese children with asthma:China;Control:70 age- and sex-matched controls										
115903	Y	obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	5	5q31-q32	ADRB2	148186348	148188381		Evans, D.  et al. 2001	11466580				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		109690	14602	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
115904		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381			16172412				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Hypertension. 2005 Oct;46(4):758-65	WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic		109690	14783	2	2005												
115899	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Huang, G.  et al. 2005	16188057				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Aug;33(8):713-6	[Association between the beta 2 adrenergic receptor polymorphism and blood pressure in YueXi population]		109690	8544	2	2005	 Our results suggest a probable association between Arg16Gly polymorphism of ADRB2 gene and hypertension.											
115900		asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381			16322642				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			American journal of respiratory and critical care medicine. 2005	{beta}-adrenergic Receptor Polymorphisms and Response to Salmeterol		109690	8545	2	2005	 Relative to B16Gly/Gly patients with asthma, B16Arg/Arg patients with asthma may have an impaired therapeutic response to salmeterol in either the absence or presence of concurrent ICS use. Investigation of alternate treatment strategies may benefit this group.		corticosteroids salmeterol									
115901		asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Nanavaty, U.  et al. 2001	11202474				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		109690	10585	2	2001	Review article											
115896	N	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced	5	5q31-q32	ADRB2	148186348	148188381		Fan, L. M.  et al. 2005	15840289				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		CDC GDPinfo	154	Hs.591251			Zhonghua fu chan ke za zhi. 2005 Feb;40(2):103-5	[Study on single nucleotide polymorphism of beta2 adrenoceptor gene in patients with pregnancy induced hypertension of northern China]		109690	8540	2	2005	 It indicates that, SNP at locus +46 of beta(2)-AR gene is not associated with generation of PIH in northern China, but it has an association with the severity of PIH.	Case:108 woman with pregnancy induced hypertension northern China;Control:97 normal pregnant women										
115897		sleep disorders; body mass; blood pressure, arterial	UNKNOWN	UNK	Sleep Apnea, Obstructive	5	5q31-q32	ADRB2	148186348	148188381		Zhang, L. Q.  et al. 2005	16009000				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2005 May;44(5):333-6	[Polymorphisms in the beta2 and beta3 adrenergic receptor genes in obstructive sleep apnea/hypopnea syndrome]		109690	8542	2	2005	 beta(3)-ADR polymorphism may be involved in the development of central obesity and may be related to OSAHS by the central obesity in male OSAHS subjects of North region Han population of China, and may be induce hypertension in OSAHS patients of the population indirectly through obesity and sleep apnea. On the contrary, beta(2)-ADR polymorphism may not be correlated with central obesity and OSAHS in the population.											
115898	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Sethi, A. A.  et al. 2005	16041242				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Denmark	CDC GDPinfo	154	Hs.591251			Pharmacogenetics and genomics. 2005 Sep;15(9):633-45	164Ile allele in the beta2-Adrenergic receptor gene is associated with risk of elevated blood pressure in women. The Copenhagen City Heart Study.		109690	8543	2	2005	 In women Thr164Ile heterozygosity is associated with increased diastolic blood pressure, and represent a risk factor for elevated blood pressure in women in the general population. This was most pronounced in those women also heterozygous for Gln27Glu or Gly16Arg.											
115893	Y	respiratory airway resistance	UNKNOWN	UNK		5	5q31-q32	ADRB2	148186348	148188381		Yamasaki, Y.  et al. 2004	15069780				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Nihon Kokyuki Gakkai Zasshi. 2004 Mar;42(3):239-46	[Beta 2-adrenoceptor polymorphism and effects of inhaled beta 2-stimulant (procaterol) and an anti-cholinergic drug (oxitropium) on the airway resistance]		109690	8537	2	2004	The present study showed inhalation of procaterol and oxitropium had a differential bronchodilator effect in healthy women, depending on their genotype of beta 2-adrenoceptor polymorphism at codon 16.	Cohort healthy women 	oxitropium procaterol									
115894	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Migita, O.  et al. 2004	15153795				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Japan	CDC GDPinfo	154	Hs.591251			International archives of allergy and immunology. 2004 Jun;134(2):150-7	ADRB2 Polymorphisms and Asthma Susceptibility:Transmission Disequilibrium Test and Meta-Analysis		109690	8538	2	2004	 Our data indicate that ADRB2 does not contribute substantially to susceptibility to asthma, but it is possible that these polymorphisms influence disease activity and drug responses in individuals with asthma.											
115895		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Hegab, A. E.  et al. 2004	15596681				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Egypt|Japan	CDC GDPinfo	154	Hs.591251			Chest. 2004 Dec;126(6):1832-9	Polymorphisms of IL4, IL13, and ADRB2 genes in COPD.		109690	8539	2	2004	 The ADRB2 + 79 C/G polymorphism and the haplotypes shown in this study may be involved in the pathogenesis of COPD.	Control:61/72 Japanese (n=61) AND Egyptian (n=72) controls;Case:88/106 Japanese (n=88) AND Egyptian (n=106) patients with chronic obstructive pulmonary disease										
115890	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	5	5q31-q32	ADRB2	148186348	148188381		Niino, M.  et al. 2002	12474986				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Japanese	Japan	CDC GDPinfo	154	Hs.591251			Multiple sclerosis (Houndmills, Basingstoke, England). 2002 Dec;8(6):475-8	An examination of the association between beta2 adrenergic receptor polymorphisms and multiple sclerosis.		109690	8534	2	2002	Together, our findings suggest that the presence of beta2AR gene polymorphisms may be inconclusive in the susceptibility to MS or in the clinical characteristics of Japanese patients with MS and, therefore, need further studies.	Case Japanese multiple sclerosis patients;Control:controls										
115891	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Gao, J. M.  et al. 2002	12905693				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		CDC GDPinfo	154	Hs.591251			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Dec;24(6):626-31	[Association of polymorphism of human beta 2-adrenergic receptor gene and bronchial asthma]		109690	8535	2	2002	 Gly16 homozygous beta 2AR was associated with asthma susceptibility in Chinese patients with Han ethnic nearby Beijing region, and Gly16 homozygous beta 2AR was associated significantly with nocturnal asthma. Glu27 homozygous beta 2AR was related to hyper-bronchial reactivity of asthmatics.	Case:125 Han origin asthmatics Beijing region, China;Control:96 normal heatlhy controls										
115892		blood pressure, arterial	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Romaino, S. M.  et al. 2004	14748897				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Journal of clinical pharmacy and therapeutics. 2004 Feb;29(1):47-52	A simple and rapid genotyping method for beta-2 receptor (beta2 AR) gene using allele specific multiplex PCR.		109690	8536	2	2004	 The simple and rapid method for the simultaneous detection of the five beta2 AR alleles is suitable for the study of beta2 polymorphism and its clinical consequences.	Cohort patient with bronchial asthma 										
115887	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Fu, J.  et al. 2002	11836685				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		CDC GDPinfo	154	Hs.591251			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):41-5	[Association between the genetic polymorphisms of beta2-adrenergic receptor gene and the asthma susceptibility and clinical phenotypes in a Chinese population]		109690	8531	2	2002	 In this study population, the authors were unable to confirm that the polymorphism of beta2-adrenergic receptor gene is a crucial factor of the susceptibility to asthma and a major genetic determinant of different clinical status.	Cohort 166 unrelated jChinese childhood asthma cases 										
115888	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Wu, H.  et al. 2002	11941588				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Zhonghua yi xue yi chuan xue za zhi. 2002 Apr;19(2):127-9	[Two single nucleotide polymorphisms of beta 2-adrenoceptor gene in elderly patients with hypertension]		109690	8532	2	2002	 These data indicate that the SNP at locus +1239 of beta 2-AR gene is associated with hypertension in elderly patients.	Control:43 controls from unrelated Chinese Han population;Case:86 elderly patients with hypertension from unrelated Chinese Han population Dabie Mountain in Anhui province, China										
115889	Y	pulmonary function	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Kobayashi, M.  et al. 2002	12428391				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Nihon Kokyuki Gakkai Zasshi. 2002 Aug;40(8):637-43	[beta 2-adrenoceptor polymorphism and effect of inhaled beta 2-stimulant (procaterol) on airway resistance measured by body plethysmography in healthy volunteers]		109690	8533	2	2002	The present study showed that a single inhalation of procaterol has a varying bronchodilator effect on healthy adults, depending on the genotype of beta 2 adrenoceptor polymorphism at codon 16.	Cohort healthy volunteers 	procaterol									
115884		asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Winterton, D. L.  et al. 2001	11258696				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8	Genetic polymorphisms as biomarkers of sensitivity to inhaled sulfur dioxide in subjects with asthma.		109690	8528	2	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.	Cohort 62 volunteers with physician-diagnosed asthma requiring regular asthma medication. 	sulfur dioxide									
115885	Y	asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Gao, G.  et al. 2000	11778498				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese	China	CDC GDPinfo	154	Hs.591251			Zhonghua jie he he hu xi za zhi. 2000 Feb;23(2):93-7	[Study on beta 2 adrenergic receptor genetic polymorphisms in asthmatics in the people of the Han nationality of northern China]		109690	8529	2	2000	 These results suggest that beta 2-AR 16 locus genetic polymorphism is correlated with asthma severity in the people of the Han nationality of northern China.	Case:58 unrelated patients with asthma from the people of the Han nationality of northern China. northern China;Control:89 healthy from the people of the Han nationality of northern China.										
115886		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Wu, H.  et al. 2001	11798846				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDPinfo	154	Hs.591251			Zhonghua yi xue za zhi. 2001 Jan;81(1):23-6	[Study on distribution of single nucleotide polymorphism in 5'-regulatory region of beta(2)-adrenoceptor gene in hypertensives]		109690	8530	2	2001	 The SNP at locus 1023 of human beta(2)-AR gene is associated with severe hypertension in Chinese Han population.	Case Chinese Han with severe hypertension;Control unrelated Chinese Han not otherwise specified in:abstract										
115880	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Timmermann B 1998	9607174	Arg16Gly		coding sequence	Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Caucasian		Timmermann B	154	Hs.591251			Kidney international. 1998 Jun;53(6):1455-60	Beta-2 Adrenoceptor Genetic Variation is Associated with Genetic Predisposition to Essential Hypertension: The Bergen Blood Pressure Study		109690	272	1	1998												
115882	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Martinez JA 2003	12888635	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of nutrition. 2003 Aug;133(8):2549-54	Obesity risk is associated with carbohydrate intake in women carrying the Gln27Glu beta2-adrenoceptor polymorphism.		109690	274	1	2003												
115883	Y	asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Xu X et al. 2002	12204887				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		China	KGB	154	Hs.591251	smoking		American journal of respiratory and critical care medicine. 2002 Sep;166(5):775	Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking.		109690	275	1	2002												
115876	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q31-q32	ADRB2	148186348	148188381		Chang TJ 2002	12390345	Arg16Gly			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Taiwan	Y Wang	154	Hs.591251	Complications		Clinical endocrinology. 2002 Nov;57(5):685-90	The Arg16Gly polymorphism of human beta2-adrenoreceptor is associated with type 2 diabetes in Taiwanese people.		109690	268	1	2002	 In a Taiwanese population, homozygosity of Arg16 in the ADRB2 gene was associated with a higher frequency (odds ratio 1.87, 95% confidence interval 1.34-2.40) for development of type 2 diabetes. Moreover, this polymorphism was also associated with an earlier onset of type 2 diabetes. However, the Glu27Gln polymorphism had no impact on either BMI or type 2 diabetes in a Taiwanese population.											
115877		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Duarte NL 2003	12605574				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Tongan	Tonga	Y Wang	154	Hs.591251	Obesity		Clin Sci (Lond).. 2003 Mar;104(3):211-5	Obesity, Type II diabetes and the beta 2 adrenoceptor gene Gln27Glu polymorphism in the Tongan population.		109690	269	1	2003												
115879	N	obesity	METABOLIC	MET	Obesity, Morbid	5	5q31-q32	ADRB2	148186348	148188381	n	Oberkofler H et al. 2000	10757636				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Austria	KGB	154	Hs.591251			International journal of obesity and related metabolic disorders. 2000 Mar;24(3):388-90	The Gln27Glu polymorphism in the beta2-adrenergic receptor gene is not associated with morbid obesity in Austrian women.		109690	271	1	2000	 We conclude that the two polymorphisms in the beta2AR gene studied are not a major factor contributing to obesity in our population.											
115872		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	5	5q31-q32	ADRB2	148186348	148188381		Bengtsson K 2001	11358945				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			Y Wang	154	Hs.591251	hypertension		Hypertension. 2001 May;37(5):1303-8	Beta(2)-adrenergic receptor gene variation and hypertension in subjects with type 2 diabetes.		109690	264	1	2001												
115874		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Von Wowern F 2004	14744925				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Hypertension. 2004 Mar;43(3):592-7	Functional variant in the (alpha)2B adrenoceptor gene, a positional candidate on chromosome 2, associates with hypertension.		109690	266	1	2004												
115875		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	5	5q31-q32	ADRB2	148186348	148188381		Kim SH 2002	12077726				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Korean	Korea	Y Wang	154	Hs.591251			Metabolism:  clinical and experimental. 2002 Jul;51(7):833-7	Significance of beta2-adrenergic receptor gene polymorphism in obesity and type 2 diabetes mellitus in Korean subjects.		109690	267	1	2002												
115868		obesity	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Pereira AC 2003	12900437				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	unknown		KGB	154	Hs.591251			Hypertension. 2003 Oct;42(4):685-92	Beta2 adrenoceptor functional gene variants, obesity, and blood pressure level interactions in the general population.		109690	260	1	2003												
115870		decline in lung function	OTHER	OTH	Asthma|Bronchial Hyperreactivity|Lung Diseases	5	5q31-q32	ADRB2	148186348	148188381		Joos L 2003	12885990				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251	smokers		Thorax. 2003 Aug;58(8):703-7	Polymorphisms in the beta2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness~~~ and rate of decline in lung function in smokers.		109690	262	1	2003	 Heterozygosity at position 27 may be protective against an accelerated rate of decline in lung function. The polymorphism at position 16 does not contribute to the rate of decline in lung function, measures of NSBH, or BDR in smokers.											
115871		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q31-q32	ADRB2	148186348	148188381		Carlsson M 2001	11380082	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Sweden	Y Wang	154	Hs.591251	Complications		Diabetologia. 2001 May;44(5):629-36	Common variants in the beta2-(Gln27Glu) and beta3-(Trp64Arg)--adrenoceptor genes are associated with elevated serum NEFA concentrations and type II diabetes.		109690	263	1	2001												
115865		childhood asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Silverman EK 2003	14610472				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of allergy and clinical immunology. 2003 Nov;112(5):870-6	Family-based association analysis of beta2-adrenergic receptor polymorphisms in the childhood asthma management program.		109690	257	1	2003	 B2AR variants are associated with spirometric values and bronchodilator responsiveness, but different regions of the gene provide evidence for association with these phenotypes.											
115866	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Dallongeville J 2003	14557466	Gly16-->Arg16 and Gln27-->Glu27			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4862-6	The Gly16-->Arg16 and Gln27-->Glu27 polymorphisms of beta2-adrenergic receptor are associated with metabolic syndrome in men.		109690	258	1	2003												
115867	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	5	5q31-q32	ADRB2	148186348	148188381		Gonzalez Sanchez JL 2003	14510910	glutamine 27 glutamic acid			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	spanish		KGB	154	Hs.591251			Clinical endocrinology. 2003 Oct;59(4):476-81	The glutamine 27 glutamic acid polymorphism of the beta2-adrenoceptor gene is associated with abdominal obesity and greater risk of impaired glucose tolerance in men but not in women: a population-based study in Spain.		109690	259	1	2003	 Our results suggest that the glutamic acid 27 allele of the beta2-adrenoceptor may be a risk factor in men but not in women for the accumulation of visceral fat and for its association with the development of type 2 diabetes mellitus.											
115860	N	Atopy. BHR	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Winterton 2001	11258696	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8			109690	252	1	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.		sulfur dioxide									
115862		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Wang Z 2001	11371409	?????			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Anqing. China	China	TJB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 May;163(6):1404-9			109690	254	1	2001		Case:128; Control:136										
115863	N	obesity	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381	n	Echwald SM et al. 1998	9753308				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Diabetes. 1998 Oct;47(10):1657-8	Gln27Glu variant of the human beta2-adrenoreceptor gene is not associated with early-onset obesity in Danish men.		109690	255	1	1998												
115856	Y	Asthma smokers	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.002	Wang Z 2001	11371409	Arg-16/Arg-16			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		China	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 May;163(6):1404-9			109690	248	1	2001												
115857	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Timmermann B et al. 1998	9607174				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Kidney international. 1998 Jun;53(6):1455-60	Beta-2 adrenoceptor genetic variation is associated with genetic predisposition to essential hypertension: The Bergen Blood Pressure Study.		109690	249	1	1998												
115858	N	Steroid-dependent asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Reihsaus E 1993	8383511	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			American journal of respiratory cell and molecular biology. 1993 Mar;8(3):334-9			109690	250	1	1993												
115852	N	Asthma. atopy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Dewar JC 1997	9275150	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	244	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
115854	N	Asthma. total IgE	INFECTION	INF	Helminthiasis|Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Ramsay CE 1999	10323253	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Venezuela	KCB	154	Hs.591251			Human genetics. 1999 Mar;104(3):269-74			109690	246	1	1999												
115855		Desensitization	OTHER	OTH		5	5q31-q32	ADRB2	148186348	148188381		Moore 2000	11112125	Cys19Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2117-24			109690	247	1	2000												
115848	Y	FEV1	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	P<0.05	Hall IP1995	7739309	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Lancet. 1995 May;345(8959):1213-4			109690	240	1	1995												
115850	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Ranade K et al. 2001	11775126				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		KGB	154	Hs.591251			American journal of hypertension. 2001 Dec;14(12):1196-200	The glycine allele of a glycine/arginine polymorphism in the beta2-adrenergic receptor gene is associated with essential hypertension in a population of Chinese origin.		109690	242	1	2001	 The Glyl6 allele in the beta2-adrenergic receptor gene is a susceptibility allele for essential hypertension in a population of Chinese origin.											
115851	Y	persistent bronchial hyperresponsiveness	OTHER	OTH	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		D'amato M et al. 1998	9847294				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care	Association of persistent bronchial hyperresponsiveness with beta2-adrenoceptor (ADRB2) haplotypes. A population study.		109690	243	1	1998												
115844	Y	subcutaneous fat accumulation	OTHER	OTH	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Ukkola O et al. 2001	11753578				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			International journal of obesity and related metabolic disorders. 2001 Nov;25(11):1604-8	Beta-2 adrenergic receptor variants are associated with subcutaneous fat accumulation in response to long-term overfeeding.		109690	236	1	2001	 The ADRB2 Gln27Gln subjects gained more weight and total subcutaneous fatness and also experienced a greater increase in insulin resistance than Glu27Glu/Gln27Glu subjects with exposure to long-term overfeeding. Similar differences were observed between carriers and non-carriers of the ADRB2 3.7/3.4 kb BanI variant. Genetic variation at the ADRB2 locus could thus be one of the factors responsible for the large inter-individual differences observed in the response to long-term alterations in energy balance and should be further investigated.											
115845	Y	hypertriglyceridemia and the development of fatty liver	METABOLIC	MET	Fatty Liver|Hypertriglyceridemia	5	5q31-q32	ADRB2	148186348	148188381		Iwamoto N et al. 2001	11718682				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Clinica chimica acta; international journal of clinical chemistry. 2001 Dec;314(2-Jan):85-91	Gln27Glu beta2-adrenergic receptor variant is associated with hypertriglyceridemia and the development of fatty liver.		109690	237	1	2001	 These results suggest that the amino-terminal polymorphisms of the beta2-adrenergic receptor gene in codon 27 were associated with hypertryglyceridemia and independent of obesity, and thereby could be involved in the molecular pathogenesis of fatty liver.											
115847	Y	Steroid-requiring asthma in sedentary women	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.02	Barr RG 2001	11713122	Gly16 allele			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Chest. 2001 Nov;120(5):1474-9			109690	239	1	2001	 This exploratory analysis suggests an important gene/environment interaction for asthma involving physical activity level. Further study in larger populations is warranted to confirm if sedentary lifestyle unmasks a genetic risk for asthma.											
115841		regional fat distribution	METABOLIC	MET		5	5q31-q32	ADRB2	148186348	148188381		Oppert JM et al. 1995	7627773				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Obesity research. 1995 May;3(3):249-55	DNA polymorphisms in the alpha 2- and beta 2-adrenoceptor genes and regional fat distribution in humans: association and linkage studies.		109690	233	1	1995												
115842		regional fat distribution	METABOLIC	MET		5	5q31-q32	ADRB2	148186348	148188381		Oppert JM et al. 1995	7627773				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Obesity research. 1995 May;3(3):249-55	DNA polymorphisms in the alpha 2- and beta 2-adrenoceptor genes and regional fat distribution in humans: association and linkage studies.		109690	234	1	1995												
115843	Y	flow-mediated dilatation of the brachial artery	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Heinonen P et al. 2002	12401126				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Clin Sci (Lond).. 2002 Nov;103(5):517-24	Deletion polymorphism in the alpha2B-adrenergic receptor gene is associated with flow-mediated dilatation of the brachial artery.		109690	235	1	2002												
115836	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Obesity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Huang XE et al. 2001	11434877				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Breast cancer research. 2001 ;3(4):264-9	Possible association of beta2- and beta3-adrenergic receptor gene polymorphisms with susceptibility to breast cancer.		109690	228	1	2001	 A potential association may exist between risk of breast cancer and polymorphisms in the ADRB2 and ADRB3 genes; further studies in larger samples and/or in different ethnic groups are warranted to investigate this potential association.											
115837	N	obesity	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381	n	Hayakawa T et al. 2000	11016907				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Japanese	Japan	KGB	154	Hs.591251			Metabolism:  clinical and experimental. 2000 Sep;49(9):1215-8	Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene are not associated with obesity in Japanese men.		109690	229	1	2000												
115839	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381		Summerhill E et al. 2000	10934093				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		South Dakota|Europe	KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Aug;162(2 Pt 1):599-602	beta(2)-adrenergic receptor Arg16/Arg16 genotype is associated with reduced lung function but not with asthma in the Hutterites.		109690	231	1	2000												
115832		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Tomaszewski M et al. 2002	12215468				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Hypertension. 2002 Sep;40(3):286-91	Essential hypertension and beta2-adrenergic receptor gene: linkage and association analysis.		109690	224	1	2002												
115834	Y	obesity	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Heinonen P et al. 1999	10404816				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251	reduced basal metabolic rate		The Journal of clinical endocrinology and metabolism. 1999 Jul;84(7):2429-33	Identification of a three-amino acid deletion in the alpha2B-adrenergic receptor that is associated with reduced basal metabolic rate in obese subjects.		109690	226	1	1999												
115835	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Insulin Resistance|Obesity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Takezaki T et al. 2001	11706779				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Japanese	Japan	KGB	154	Hs.591251			International journal of clinical oncology. 2001 Jun;6(3):117-22	Association of polymorphisms in the beta-2 and beta-3 adrenoceptor genes with risk of colorectal cancer in Japanese.		109690	227	1	2001	 These findings suggest that the BAR3 polymorphism may alter the susceptibility to colon cancer risk in obese subjects. To confirm this finding, a further study with a larger number of subjects is now required.											
115828	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hypertriglyceridemia|Obesity	5	5q31-q32	ADRB2	148186348	148188381		Ishiyama-Shigemoto S et al. 1999	10027586				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Diabetologia. 1999 Jan;42(1):98-101	Association of polymorphisms in the beta2-adrenergic receptor gene with obesity hypertriglyceridaemia and diabetes mellitus.		109690	220	1	1999												
115830	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381	n	Xie HG et al. 2000	10872649				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Clinical pharmacology and therapeutics. 2000 Jun;67(6):670-5	Human beta2-adrenergic receptor polymorphisms: no association with essential hypertension in black or white Americans.		109690	222	1	2000	 These data suggest that although there are marked ethnic differences in their distribution, the common genetic polymorphisms of the human beta2-adrenergic receptor gene do not cosegregate with the presence of hypertension in either black or white Americans.											
115831	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Fu J et al. 2002	11836685				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese		KGB	154	Hs.591251			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):41-5	Association between the genetic polymorphisms of beta2-adrenergic receptor gene and the asthma susceptibility and clinical phenotypes in a Chinese population		109690	223	1	2002	 In this study population, the authors were unable to confirm that the polymorphism of beta2-adrenergic receptor gene is a crucial factor of the susceptibility to asthma and a major genetic determinant of different clinical status.	Cohort 166 unrelated jChinese childhood asthma cases										
115824	N	Response to beta2-agonist therapy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Hancox RJ 1998	9596107	Gly16Arg. Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The European respiratory journal. 1998 Mar;11(3):589-93			109690	216	1	1998												
115825	N	High total IgE. asthma. atopy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Dewar JC 1997	9275150	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	217	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
115826		Asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Kotani 1999	10524541	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of asthma. 1999 Oct;36(7):583-90			109690	218	1	1999												
115820	N	BMI	METABOLIC	MET	Cardiovascular Diseases	5	5q31-q32	ADRB2	148186348	148188381	n	Santos JL 2002	11882399	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Chile	KGB	154	Hs.591251			Nutrition (Burbank, Los Angeles County, Calif). 2002 Mar;18(3):255-8			109690	212	1	2002	 We found insufficient evidence to support an association between polymorphisms Gln27Glu and Trp64Arg of the ADRB2 and ADRB3 genes, respectively, with body mass index and other cardiovascular risks in the rural Aymara population from Chile.											
115821	N	Nocturnal asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Turki J1995	7706471	Gln27Glu. Thr164Ile			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of clinical investigation. 1995 Apr;95(4):1635-41			109690	213	1	1995												
115822	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Ramsay CE 1999	10469027	Gly16Arg. Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 1999 Sep;29(9):1195-203			109690	214	1	1999	 The polymorphism at position 27 was associated with decreased airway responsiveness in the study population and the polymorphism at position 16 was associated with increased wheeze during respiratory infection, but neither was associated with physician-diagnosed asthma or any of the other variables considered.											
115816	Y	BHR	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	P<0.05	Fowler SJ 2000	11029338				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Oct;162(4 Pt 1):1318-22			109690	208	1	2000												
115817	Y	BHR	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	P<0.05	Fowler SJ 2000	11029338				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	U.K.		KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Oct;162(4 Pt 1):1318-22			109690	209	1	2000												
115818	Y	Asthma smokers	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.002	Wang Z 2001	11371409	Arg-16/Arg-16			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese	China	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 May;163(6):1404-9			109690	210	1	2001												
115819	N	Asthma. total IgE	INFECTION	INF	Helminthiasis|Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Ramsay CE 1999	10323253	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Venezuela	KCB	154	Hs.591251			Human genetics. 1999 Mar;104(3):269-74			109690	211	1	1999												
115812	Y	Obesity and Type 2 Diabetes	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	5	5q31-q32	ADRB2	148186348	148188381	p=0.0026	Yamada K 1999	10323412	T-->C substitution at -47 and T-->C substitution at -20			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			TJB	154	Hs.591251			The Journal of clinical endocrinology and metaboli	Polymorphism in the 5'-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes.		109690	204	1	1999	The exchange at -47 may alter the expression level of the beta2-adrenergic receptor gene, because the nucleotide substitution at -47 results in a Cys-->Arg exchange at the C terminal of the leader peptide. The -47C/-20C allele may be associated with genetic predisposition to obesity and obesity-related metabolic disorders.											
115814	Y	Asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.04	Holloway JW 2000	10931116	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 2000 Aug;30(8):1097-103			109690	206	1	2000	 We conclude that the polymorphisms of amino acids 16 and 27 of the beta2AR gene are not associated with the development of asthma per se, but that the Gly16 polymorphism may play a role in the pathogenesis of asthma severity.											
115815	Y	Asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.04	Holloway JW 2000	10931116	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 2000 Aug;30(8):1097-103			109690	207	1	2000	 We conclude that the polymorphisms of amino acids 16 and 27 of the beta2AR gene are not associated with the development of asthma per se, but that the Gly16 polymorphism may play a role in the pathogenesis of asthma severity.											
115808	Y	High total IgE	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P=0.009	Dewar JC 1997	9275150	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	200	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
115810	Y	Decreased airway responsiveness	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.016	Ramsay CE 1999	10469027	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Australian		KGB	154	Hs.591251			Clinical and experimental allergy. 1999 Sep;29(9):1195-203			109690	202	1	1999	 The polymorphism at position 27 was associated with decreased airway responsiveness in the study population and the polymorphism at position 16 was associated with increased wheeze during respiratory infection, but neither was associated with physician-diagnosed asthma or any of the other variables considered.											
115811	Y	Decreased airway responsiveness	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.016	Ramsay CE 1999	10469027	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Clinical and experimental allergy. 1999 Sep;29(9):1195-203			109690	203	1	1999	 The polymorphism at position 27 was associated with decreased airway responsiveness in the study population and the polymorphism at position 16 was associated with increased wheeze during respiratory infection, but neither was associated with physician-diagnosed asthma or any of the other variables considered.											
115804	Y	Nocturnal asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P=0.007	Turki J1995	7706471	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of clinical investigation. 1995 Apr;95(4):1635-41			109690	196	1	1995												
115805	Y	Nocturnal asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P=0.007	Turki J1995	7706471	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of clinical investigation. 1995 Apr;95(4):1635-41			109690	197	1	1995												
115806	Y	PEF	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P=0.012	Israel E 2000	10903223	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	American		KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Jul;162(1):75-80			109690	198	1	2000												
115807	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381	p=0.01 to 0.04	Kato N 2001	11230287	Arg16Gly. Gln27Glu. and T-47C			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Japanese	Japan	TJB	154	Hs.591251			Hypertension. 2001 Feb;37(2):286-92			109690	199	1	2001		Case:842; Control:633										
115800		Beta-agonist dependence	OTHER	OTH	Asthma|Respiratory Sounds	5	5q31-q32	ADRB2	148186348	148188381		Martinez F 1997	9399966	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of clinical investigation. 1997 Dec;100(12):3184-8			109690	192	1	1997												
115802	N	PEF	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Israel E 2000	10903223	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Jul;162(1):75-80			109690	194	1	2000												
115803		Wheeze	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Ramsay CE 1999	10469027	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Australian		KGB	154	Hs.591251			Clinical and experimental allergy. 1999 Sep;29(9):1195-203			109690	195	1	1999	 The polymorphism at position 27 was associated with decreased airway responsiveness in the study population and the polymorphism at position 16 was associated with increased wheeze during respiratory infection, but neither was associated with physician-diagnosed asthma or any of the other variables considered.											
115796	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Ober C 2000	11022011	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Hutterites	South Dakota	KCB	154	Hs.591251			American journal of human genetics. 2000 Nov;67(5):1154-62			109690	188	1	2000												
115797	N	Asthma. BHR. total IgE. airway obstruction. FEV1 & FVC increased	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	n	Summerhill 2000	10934093	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		South Dakota|Europe	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Aug;162(2 Pt 1):599-602			109690	189	1	2000												
115799		Beta-agonist dependence	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Tan 1997	9431832	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			British journal of clinical pharmacology. 1997 Dec;44(6):565-8			109690	191	1	1997	 Repeated dosing with high-dose inhaled fluticasone did not up-regulate lymphocyte beta2-AR as compared with a single dose of oral prednisolone, despite having significantly suppressed early morning plasma cortisol. This study confirms our previous finding of a dissociation in sensitivity between effects of inhaled corticosteroid on adrenal suppression and lymphocyte beta2-AR regulation, at least for doses up to 2 mg day-1 of fluticasone.											
115792		Desensitization	OTHER	OTH		5	5q31-q32	ADRB2	148186348	148188381		Moore 2000	11112125	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2117-24			109690	184	1	2000												
115793	Y	Body Weight	METABOLIC	MET	Hypertension|Obesity|Genetic Predisposition to Disease|Body Weight	5	5q31-q32	ADRB2	148186348	148188381		Lin RCY 2001	11775127	Gln27Glu polymorphism			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Anglo- Celtic Australian Caucasin		TJB	154	Hs.591251			American journal of hypertension. 2001 Dec;14(12):1201-4			109690	185	1	2001		Case:61; Control:41										
115794	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Wang Z 2001	11371409	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Chinese	China	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 May;163(6):1404-9			109690	186	1	2001												
115795		Asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Hopes 1998	9522789	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Scotland	KCB	154	Hs.591251			BMJ (Clinical research ed). 1998 Feb;316(7132):664			109690	187	1	1998												
115789	N	Asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Holloway JW 2000	10931116	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 2000 Aug;30(8):1097-103			109690	181	1	2000	 We conclude that the polymorphisms of amino acids 16 and 27 of the beta2AR gene are not associated with the development of asthma per se, but that the Gly16 polymorphism may play a role in the pathogenesis of asthma severity.											
115790	Y	Bronchial asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P<0.01	Ohe M1995	7785006				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Japan	KCB	154	Hs.591251			Thorax. 1995 Apr;50(4):353-9			109690	182	1	1995												
115791	Y	Parasitic infection	INFECTION	INF	Helminthiasis|Asthma	5	5q31-q32	ADRB2	148186348	148188381	P<0.01	Ramsay CE 1999	10323253	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Australian aborigines	Venezuela	KGB	154	Hs.591251			Human genetics. 1999 Mar;104(3):269-74			109690	183	1	1999												
115785	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Hakonarson H 2001	11739132	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Icelandic	Iceland	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			109690	177	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
115786	Y	FEV1	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	P<0.05	Hall IP1995	7739309	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Lancet. 1995 May;345(8959):1213-4			109690	178	1	1995												
115787	N	Steroid-dependent asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Reihsaus E 1993	8383511	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			American journal of respiratory cell and molecular biology. 1993 Mar;8(3):334-9			109690	179	1	1993												
115781	N	Response to beta2-agonist therapy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Hancox RJ 1998	9596107	Gly16Arg. Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The European respiratory journal. 1998 Mar;11(3):589-93			109690	173	1	1998												
115782	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Ober C 2000	11022011	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Hutterites	South Dakota	KCB	154	Hs.591251			American journal of human genetics. 2000 Nov;67(5):1154-62			109690	174	1	2000												
115783	N	Atopy. BHR	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Winterton 2001	11258696	Thr164Ile			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8			109690	175	1	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.		sulfur dioxide									
115776	N	Nocturnal asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Turki J1995	7706471	Gln27Glu. Thr164Ile			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of clinical investigation. 1995 Apr;95(4):1635-41			109690	168	1	1995												
115777	N	Desensitization	OTHER	OTH		5	5q31-q32	ADRB2	148186348	148188381	n	Moore 2000	11112125	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2117-24			109690	169	1	2000												
115779	Y	Bronchial asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P<0.01	Ohe M1995	7785006				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Japan	KCB	154	Hs.591251			Thorax. 1995 Apr;50(4):353-9			109690	171	1	1995												
115772		BHR	OTHER	OTH	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		D`amato 1998	9847294	Gly16/Gln27			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 1998 Dec;158(6):1968-73			109690	164	1	1998												
115773		Asthma	IMMUNE	IMM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Weir 1998	9731005	Gly16/Gln27			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 1998 Sep;158(3):787-91			109690	165	1	1998	We conclude that  the beta2AR genotype is not a major determinant of fatal or near-fatal asthma. Furthermore, allele frequency variation among ethnic groups must be considered in clinical studies of beta2AR polymorphisms in asthma.											
115775		Beta-agonist dependence	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Tan 1997	9431832	46G			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			British journal of clinical pharmacology. 1997 Dec;44(6):565-8			109690	167	1	1997	 Repeated dosing with high-dose inhaled fluticasone did not up-regulate lymphocyte beta2-AR as compared with a single dose of oral prednisolone, despite having significantly suppressed early morning plasma cortisol. This study confirms our previous finding of a dissociation in sensitivity between effects of inhaled corticosteroid on adrenal suppression and lymphocyte beta2-AR regulation, at least for doses up to 2 mg day-1 of fluticasone.											
115768		blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Snapir, A.  et al. 2003	12519093				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Clin Sci (Lond).. 2003 May;104(5):509-20	Effects of common polymorphisms in the alpha 1A- alpha- 2B, beta 1-, and beta 2-adrenergic receptors on hemodynamic responses to adrenaline		109630	23965	2	2003	These results suggest that upon acute adrenaline infusion, the alpha 2B-AR D/D genotype confers increased vasoconstriction, and that the beta 2-AR GG genotype confers reduced vasodilatation.	Cohort 16 young, healthy men 	adrenaline									
115769		hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Liljedahl, U.  et al. 2003	12544508				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		109630	25817	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115771		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	10	10q24-q26	ADRB1	115793795	115796657		Matayoshi, T.  et al. 2004	15824464				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		109630	27374	2	2004			thiazide diuretics									
115765		heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Nonen, S.  et al. 2005	16187973				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1	Japanese		CDC GDPinfo	153	Hs.642658			British journal of clinical pharmacology. 2005 Oct;60(4):414-7	No positive association between adrenergic receptor variants of alpha2cDel322-325, beta1Ser49, beta1Arg389 and the risk for heart failure in the Japanese population.		109630	20307	2	2005	 In this population, the variants beta(1)Ser49, beta(1)Arg389, and alpha(2c)Del322-325 do not appear to be risk factors for chronic heart failure due to DCM. The alpha(2c)Del322-325 variant may in fact confer some protection.											
115766	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Kaye, D. M.  et al. 2004	15542284				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Journal of the American College of Cardiology. 2004 Nov;44(10):2008-15	Interaction between cardiac sympathetic drive and heart rate in heart failure: modulation byadrenergic receptor genotype.		109630	20308	2	2004	 For the first time, we show that beta(2)-adrenoceptor polymorphisms significantly influence the relationship between heart rate and cardiac adrenergic drive in CHF, but do not affect the rate of norepinephrine release from sympathetic nerve terminals.	Cohort 60 patients with severe congestive heart failure 										
115767		blood pressure; heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		McCaffery, J. M.  et al. 2002	12023679				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Journal of hypertension. 2002 Jun;20(6):1105-14	Variability within alpha- and beta-adrenoreceptor genes as a predictor of cardiovascular function at rest and in response to mental challenge.		109630	23964	2	2002	These results indicate that some polymorphic variation within adrenoreceptor genes contributes to interindividual variability in resting SBP and DBP and in DBP response to mental challenge.	Cohort 309 European-American, young adult men and women (including 101 monozygotic and 44 dizygotic twin pairs) 										
115762		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Turner, S. T.  et al. 2003	14553962				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			American journal of hypertension. 2003 Oct;16(10):834-9	Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide		109630	20304	2	2003	 Although we reject the null hypothesis of no genetic effects on BP response to hydrochlorothiazide, the influence of variation at single sites is likely to be small. More extensive characterization of genetic variation is required for pharmacogenetic approaches to become clinically useful in tailoring antihypertensive drug therapy for individual patients.	Cohort 291/294 unrelated non-Hispanic African American adults (n=291, 150 women and 141 men) and unrelated non-Hispanic white adults (n=294, 126 women and 168 men) who were between 30 and 59.9 years of age and who had essential hypertension. 	hydrochlorothiazide									
115763		hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Shioji, K.  et al. 2004	15055253				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1	Japanese	Japan	CDC GDPinfo	153	Hs.642658			Hypertension research. 2004 Jan;27(1):31-7	Association between hypertension and the alpha-adducin, beta1-adrenoreceptor, and G-protein beta3 subunit genes in the Japanese population; the Suita study.		109630	20305	2	2004	The present results do not agree with those in previous reports. Almost all common variants may have only a modest effect on common diseases, and a single study even employing 1,880 subjects may lack the statistical power to detect a real association. Accordingly, it will be necessary to verify the association between these three genes and hypertension using a larger number of subjects from the Suita cohort or another population.	Cohort 867/1,013 a large cohort representing the general population in Japan (867 males, 1,013 females) 										
115764		congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Small, K. M.  et al. 2002	12374873				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			The New England journal of medicine. 2002 Oct;347(15):1135-42	Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure		109630	20306	2	2002	 The alpha2CDel322-325 and beta1Arg389 receptors act synergistically to increase the risk of heart failure in blacks. Genotyping at these two loci may be a useful approach for identification of persons at risk for heart failure or its progression, who may be candidates for early preventive measures.	Case:159 patients with heart failure;Control:189:controls										
115759	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Liang, Y.  et al. 2004	15079793				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1	Chinese		CDC GDPinfo	153	Hs.642658			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):124-7	[The genotype analysis of beta adrenergic receptor gene family in high risk population of hypertension in northeast China]		109630	15101	2	2004	 In this study, Arg389Gly polymorphism of beta(1)-AR was involved in the pathogenesis of hypertension. Individuals homozygous for the Gly389 allele of the beta(1)-AR are at increased risk of developing hypertension.	Case:144:hypertensives;Control:174:normotensives										
115760		acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction	10	10q24-q26	ADRB1	115793795	115796657		Lanfear, D. E.  et al. 2005	16189366				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			JAMA. 2005 Sep;294(12):1526-33	Beta2-adrenergic receptor genotype and survival among patients receiving beta-blocker therapy after an acute coronary syndrome.		109630	15104	2	2005	 Patients prescribed beta-blocker therapy after an ACS have differential survival associated with their ADRB2 genotypes. Further assessment of the benefits of beta-blocker therapy in high-risk genotype groups may be warranted.											
115761	N	sudden infant death	UNKNOWN	UNK	Sudden Infant Death	10	10q24-q26	ADRB1	115793795	115796657		Fatemi, A.  et al. 2002	12029453				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1		Austria	CDC GDPinfo	153	Hs.642658			European journal of pediatrics. 2002 Jun;161(6):337-9	Sudden infant death: no evidence for linkage tocommon polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes.		109630	20060	2	2002	 Our data do not support a major association between the occurrence of sudden infant death and two common functional polymorphisms in the human uncoupling protein-1 and beta3-adrenergic receptor genes.	Case:53 Austrian SID victims;Control:54:controls										
115756		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Nieminen, T.  et al. 2005	16210433				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1	Finnish		CDC GDPinfo	153	Hs.642658			Journal of applied physiology (Bethesda, Md :  1985). 2006 Feb;100(2):507-11	Effects of polymorphisms in {beta}1-adrenoceptor and {alpha}-subunit of G-protein on heart rate and blood pressure during exercise test. The Finnish Cardiovascular Study.		109630	10840	2	2005												
115757		timolol pharmacokinetics	UNKNOWN	UNK		10	10q24-q26	ADRB1	115793795	115796657			16315032				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			European journal of clinical pharmacology. 2005 Dec;61(11):811-9	Polymorphisms of genes CYP2D6, ADRB1 and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study		109630	10841	2	2005	 The CYP2D6 poor metabolisers may be more prone to systemic adverse events with aqueous timolol than extensive metabolisers. Since CYP2D6 genotyping is not routine clinical practice, using 0.1% timolol hydrogel instead of 0.5% aqueous preparation will increase patient safety.											
115758		depressive disorder, major	PSYCH	PSY		10	10q24-q26	ADRB1	115793795	115796657		Zill, P.  et al. 2003	12815745				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):85-9	Beta-1-adrenergic receptor gene in major depression: influence on antidepressant treatmentresponse.		109630	15099	2	2003	However, after correction for multiple testing (Bonferroni) these results did not remain significant. Nevertheless, these findings suggest that the presence of the C allele might be an indicator for antidepressant treatment response. C	Control:206 healthy controls;Case:259 patients with major depressive disorder										
115752	N	heart rate; left ventricular funtion	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		de Groote, P.  et al. 2005	15861037				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Pharmacogenetics and genomics. 2005 Mar;15(3):137-42	Association between beta-1 and beta-2 adrenergic receptor gene polymorphisms and the response to beta-blockade in patients with stable congestive heart failure.		109630	8523	2	2005	There was no association between the five polymorphisms and heart rate or LVEF, either before or after beta-blockade. Heart rate and LVEF responses to beta-blockade were not associated with the beta1AR or the beta2AR polymorphisms. betaAR polymorphisms did not explain the interindividual variability in the response to beta-blockers.	Cohort 199 consecutive patients with stable congestive heart failure not treated with beta-blockers 	beta blockers									
115753	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Terra, S. G.  et al. 2005	15864115				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Pharmacogenetics and genomics. 2005 Apr;15(4):227-34	Beta1-adrenergic receptor polymorphisms and left ventricular remodeling changes in response to beta-blocker therapy.		109630	8524	2	2005	 Heart failure patients with the Arg389Arg genotype and Gly49 carriers had greater improvements in LV remodeling from beta-blocker treatment.	Cohort 61 beta-blocker naive patients with systolic heart failure 										
115754	N	body mass; obesity, localized	METABOLIC	MET	Obesity	10	10q24-q26	ADRB1	115793795	115796657		Terra, S. G.  et al. 2005	15917856				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			International journal of obesity (2005). 2005 Jul;29(7):746-54	Association between beta-adrenergic receptor polymorphisms and their G-protein-coupled receptors with body mass index and obesity in women: a reportfrom the NHLBI-sponsored WISE study.		109630	8525	2	2005	 Our study suggests that among American women with suspected coronary heart disease, polymorphisms in the betaARs and their G-protein-coupled receptors do not contribute to increased BMI, WHR, waist circumference, or obesity. Given that 50% of all women die from coronary heart disease, and a higher percentage have heart disease during their lifetime, our results are likely generalizable to many American women.	Case cases enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study:US;Control controls enrolled in Women's Ischemia Syndrome:Evaluation (WISE) study										
115749	Y	cardiomyopathy; heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure|Disease Progression	10	10q24-q26	ADRB1	115793795	115796657		Forleo, C.  et al. 2004	15464701				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1		Italy	CDC GDPinfo	153	Hs.642658			The American journal of medicine. 2004 Oct;117(7):451-8	Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy.		109630	8518	2	2004	 The Gly49 allele in the beta1-adrenergic receptor and the 5' LC-Cys19, Arg16, and Gln27 alleles in the beta2-adrenergic receptor were associated with a lower risk of heart failure in idiopathic dilated cardiomyopathy, suggesting that the beta1- and beta2-adrenergic receptor genes are modifier genes.	Cohort 171 consecutive patients (mean [+/- SD] age, 49 +/- 14 years; 129 men) with idiopathic dilated cardiomyopathy who were receiving conventional treatment 										
115750		body mass	METABOLIC	MET	Pregnancy Complications|Obesity|Weight Gain	10	10q24-q26	ADRB1	115793795	115796657		Linne, Y.  et al. 2005	15685248				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			International journal of obesity (2005). 2005 May;29(5):458-62	beta1-Adrenoceptor gene polymorphism predicts long-term changes in body weight.		109630	8519	2	2005	 Polymorphism of the beta1-adrenoceptor gene influences long-term weight gain and the incidence of adult-onset overweight in women.			beta1-adrenoceptor	Ser49Gly	beta1-adrenoceptor	Gly389Arg			Y	BMI	adult-onset obesity in women
115751		heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Terra, S. G.  et al. 2005	15735607				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Clinical pharmacology and therapeutics. 2005 Mar;77(3):127-37	beta-Adrenergic receptor polymorphisms and responses during titration of metoprolol controlled release/extended release in heart failure.		109630	8521	2	2005	 Patients with the Gly389 variant and Ser49Ser genotype were significantly more likely to require increases in heart failure medications during beta-blocker titration and thus may require more frequent follow-up during titration.	Cohort 61 beta-blocker-naive patients with systolic heart failure 	metoprolol									
115746	N	heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		White, H. L.  et al. 2003	12921807	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			European journal of heart failure. 2003 Aug;5(4):463-8	An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart failure: a MERIT-HF sub-study		109630	8514	2	2003	 In contrast to the benefits of beta-1 selective blockade, we have demonstrated that the Gly389 allele does not confer a significant mortality/morbidity benefit in heart failure patients. We have found no evidence of a pharmacogenetic effect of this biochemically functional polymorphism.	Cohort 600 heart failure patients enrolled in the MERIT-HF study (UK and Dutch participants) UK and The Netherlands 	metoprolol									
115747	N	hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Karlsson, J.  et al. 2004	15237695				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Clinical cardiology. 2004 Jun;27(6):347-50	Beta1-adrenergic receptor gene polymorphisms and response to beta1-adrenergic receptor blockade in patients with essential hypertension.		109630	8516	2	2004	 The Ser49Gly and Arg389Gly beta1-adrenergic receptor polymorphisms do not seem to exert a major effect on the changes in heart rate and blood pressure during 12 weeks of treatment with atenolol in patients with essential hypertension and LV hypertrophy.	Cohort 101 hypertensive patients with echocardiographically verified LV hypertrophy 	atenolol irbesartan									
115748	Y	personality disorders	PSYCH	PSY		10	10q24-q26	ADRB1	115793795	115796657		Stein, M. B.  et al. 2004	15312808				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Biological psychiatry. 2004 Aug;56(4):217-24	A polymorphism of the beta1-adrenergic receptor is associated with low extraversion.		109630	8517	2	2004	 The Ser49Gly functional polymorphism in the beta(1) adrenergic receptor might explain some of the population variance in extraversion and related personality traits. Population structure was excluded as an explanation for these findings. We used a sufficient marker set to exclude possible population stratification artifact. These findings should be replicated and extended to the study of psychiatric disorders marked by low extraversion, namely social phobia and other phobic disorders.	Cohort 504 undergraduate college students 										
115743		blood pressure, arterial	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Sofowora Gg, G.  et al. 2003	12709726				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Clinical pharmacology and therapeutics. 2003 Apr;73(4):366-71	A common beta1-adrenergic receptor polymorphism (Arg389Gly) affects blood pressure response to beta-blockade.		109630	8511	2	2003	 There is reduced sensitivity of Gly389 homozygotes to a beta-adrenergic receptor antagonist, and this polymorphism may be an important determinant of variability in response to beta-blockade.	Cohort 21/13 subjects homozygous for Arg389 (n = 21) or Gly389 (n = 13) alleles of the beta(1)-adrenergic receptor Arg389Gly 	atenolol									
115744	Y	hypertension	OTHER	OTH	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Johnson, J. A.  et al. 2003	12844134				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Clinical pharmacology and therapeutics. 2003 Jul;74(1):44-52	Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol.		109630	8512	2	2003	 Our data suggest that beta(1)-adrenergic receptor polymorphisms are important determinants of antihypertensive response to metoprolol. In the future, codon 49 and 389 genotypes or beta(1)-adrenergic receptor haplotypes might be used to predict the diastolic blood pressure response to metoprolol in patients with hypertension.	Cohort 40 hypertensive men and women aged 35 to 65 years 	metoprolol									
115745	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q24-q26	ADRB1	115793795	115796657		Iwai, C.  et al. 2003	12851615	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			American heart journal. 2003 Jul;146(1):106-9	Arg389Gly polymorphism of the human beta1-adrenergic receptor in patients with nonfatal acute myocardial infarction.		109630	8513	2	2003	 Our findings suggest that the genotype of Arg389Gly polymorphism in the human ADRB1 gene is associated with AMI.	Control:154 age- and sex-matched control subjects;Case:354 patients with acute myocardial infarction										
115739	Y	heart rate, resting	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Ranade, K.  et al. 2002	11854867				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1		China|Japan	CDC GDPinfo	153	Hs.642658			American journal of human genetics. 2002 Apr;70(4):935-42	A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate.		109630	8505	2	2002	The data support an additive model in which individuals heterozygous for the Ser49Gly polymorphism had mean heart rates intermediate to those of either type of homozygote, with Ser homozygotes having the highest mean heart rate and with Gly homozygotes having the lowest. Neither the Arg389Gly polymorphism in the beta1 adrenergic receptor nor polymorphisms in the beta2 and beta3 adrenergic receptors were associated with resting heart rate. The heritability of heart rate was 39.7% 7.1% (P<10-7).	Cohort A cohort of >1,000 individuals of Chinese and Japanese descent, from nuclear families 	alcohol beta blockers physical activity smoking (tobacco)									
115740	Y	obesity	METABOLIC	MET	Obesity|Body Weight	10	10q24-q26	ADRB1	115793795	115796657		Dionne, I. J.  et al. 2002	12032746				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			International journal of obesity and related metabolic disorders. 2002 May;26(5):633-9	Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene (Gly389Arg ADRB1) in Caucasian women.		109630	8506	2	2002	 This is the first study to investigate the relationship between the Gly389Arg ADRB1 variant and obesity. We found that the Arg allele is associated with greater body weight and BMI in Caucasian women due to a greater fat mass.	Cohort 931 Caucasian women (55.0+/-12.2 y) 										
115741		coronary heart disease	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	10	10q24-q26	ADRB1	115793795	115796657		White, H. L.  et al. 2002	12090746	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			European heart journal. 2002 Jul;23(14):1087-92	An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals at risk of coronary events. A WOSCOPS substudy		109630	8507	2	2002	 Our longitudinal case-control study demonstrates that the Glycine389 variant of the beta-1 adrenergic receptor does not protect against coronary events.	Case:1554 individuals taken from men enrolled in the West of Scotland Coronary Prevention Study;Control:3108 controls (2 per case matched for age and smoking status) from the same cohort who had not had a coronary event										
115736	Y	obesity	METABOLIC	MET	Obesity|Body Weight	10	10q24-q26	ADRB1	115793795	115796657		Dionne IJ et al. 2002	12032746				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1	caucasian		KGB	153	Hs.642658			International journal of obesity and related metabolic disorders. 2002 May;26(5):633-9	Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene (Gly389Arg ADRB1) in Caucasian women.		109630	163	1	2002	 This is the first study to investigate the relationship between the Gly389Arg ADRB1 variant and obesity. We found that the Arg allele is associated with greater body weight and BMI in Caucasian women due to a greater fat mass.	Cohort 931 Caucasian women (55.0+/-12.2 y)										
115737	Y	congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Borjesson M  et al. 2000	11052857				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			European heart journal. 2000 Nov;21(22):1853-8	A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure.		109630	8503	2	2000	 A novel missense mution in the beta(1)-adrenergic receptor gene was associated with a decreased mortality risk in patients with congestive heart failure. These data suggest that the beta(1)-receptor Ser49Gly variant might be associated with altered receptor function, resulting in myocardial protection in patients with heart failure.	Case:184 patients with congestive heart failure;Control:77 age-matched controls										
115738		heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Xie, H. G.  et al. 2001	11337934	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Pharmacogenetics. 2001 Apr;11(3):191-7	Arg389Gly beta 1-adrenoceptor polymorphism varies in frequency among different ethnic groups but does not alter response in vivo.		109630	8504	2	2001	Although ethnic differences in the frequency of the beta 1-adrenoceptor Arg389Gly polymorphism exist, the polymorphism does not appear to have functional significance in healthy subjects and therefore may not contribute to ethnic differences in response to drugs acting through the beta 1-adrenoceptor.	Cohort 17 healthy subjects homozygous for the Arg (n=9) and Gly (n=8) alleles Cohort 863 194 African-Americans, 316 Caucasian-Americans, 221 Hispanic-Americans and 142 Chinese 										
115733	Y	antihypertensive response to metoprolol.	OTHER	OTH	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Johnson JA 2003	12844134				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			KGB	153	Hs.642658			Clinical pharmacology and therapeutics. 2003 Jul;74(1):44-52	Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol.		109630	160	1	2003	 Our data suggest that beta(1)-adrenergic receptor polymorphisms are important determinants of antihypertensive response to metoprolol. In the future, codon 49 and 389 genotypes or beta(1)-adrenergic receptor haplotypes might be used to predict the diastolic blood pressure response to metoprolol in patients with hypertension.	Cohort 40 hypertensive men and women aged 35 to 65 years	metoprolol									
115734	Y	cardiovascular response to metoprolol	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Liu J 2003	14534524	Gly389Arg			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			KGB	153	Hs.642658			Clinical pharmacology and therapeutics. 2003 Oct;74(4):372-9	Gly389Arg polymorphism of beta1-adrenergic receptor is associated with the cardiovascular response to metoprolol.		109630	161	1	2003	 The Arg389 variant of the beta(1)-adrenergic receptor was associated with a greater response to metoprolol than that of Gly389 in young, male Chinese subjects. These data suggested that the beta(1)-adrenergic receptor Gly389Arg polymorphism is of major functional importance in vivo.											
115735		heart failure	CARDIOVASCULAR	CARD	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		White HL 2003	12921807	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			KGB	153	Hs.642658			European journal of heart failure. 2003 Aug;5(4):463-8	An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart failure: a MERIT-HF sub-study.		109630	162	1	2003	 In contrast to the benefits of beta-1 selective blockade, we have demonstrated that the Gly389 allele does not confer a significant mortality/morbidity benefit in heart failure patients. We have found no evidence of a pharmacogenetic effect of this biochemically functional polymorphism.	Cohort 600 heart failure patients enrolled in the MERIT-HF study (UK and Dutch participants) UK and The Netherlands	metoprolol									
115730		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16	ADRA2C	3738093	3740051		Etzel, J. P.  et al. 2005	15920038				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Hypertension. 2005 Jun;45(6):1207-13	Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variationand yohimbine response		104250	23962	2	2005			yohimbine									
115731		idiopathic orthostatic intolerance	OTHER	OTH	Hypotension, Orthostatic	4	4p16	ADRA2C	3738093	3740051			15719258				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3		Austria	CDC GDPinfo	152	Hs.123022			International archives of occupational and environmental health. 2005 Apr;78(3):171-7	Functional adrenergic receptor polymorphisms and idiopathic orthostatic intolerance.		104250	23963	2	2005	 Our current results suggest that the beta1Gly49 polymorphism is protective for IOI. This is likely one of several common genetic loci that may represent modifiers of IOI phenotypes.											
115732	Y	nonfatal acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q24-q26	ADRB1	115793795	115796657		Iwai C 2003	12851615	Arg389Gly			Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			KGB	153	Hs.642658			American heart journal. 2003 Jul;146(1):106-9	Arg389Gly polymorphism of the human beta1-adrenergic receptor in patients with nonfatal acute myocardial infarction.		109630	159	1	2003	 Our findings suggest that the genotype of Arg389Gly polymorphism in the human ADRB1 gene is associated with AMI.	Control:154 age- and sex-matched control subjects;Case:354 patients with acute myocardial infarction										
115726	Y	heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure	4	4p16	ADRA2C	3738093	3740051		Nonen, S.  et al. 2005	16187973				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3	Japanese		CDC GDPinfo	152	Hs.123022			British journal of clinical pharmacology. 2005 Oct;60(4):414-7	No positive association between adrenergic receptor variants of alpha2cDel322-325, beta1Ser49, beta1Arg389 and the risk for heart failure in the Japanese population.		104250	15103	2	2005	 In this population, the variants beta(1)Ser49, beta(1)Arg389, and alpha(2c)Del322-325 do not appear to be risk factors for chronic heart failure due to DCM. The alpha(2c)Del322-325 variant may in fact confer some protection.											
115727	N	personality traits	PSYCH	PSY		4	4p16	ADRA2C	3738093	3740051		Tsai, S. J.  et al. 2002	12210281				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			American journal of medical genetics. 2002 Aug;114(6):649-51	Norepinephrine transporter and alpha(2c) adrenoceptor allelic variants and personality factors.		104250	19510	2	2002	Our negative findings suggest that the investigated polymorphisms of the norepinephrine transporter and the alpha(2c) adrenoceptor do not play a major role in the reward-dependence personality trait as assessed by TPQ.	Cohort 190 normal young Han Chinese 										
115728		blood pressure, arterial	CARDIOVASCULAR	CARD	Tachycardia	4	4p16	ADRA2C	3738093	3740051		Nickander, K. K.  et al. 2005	15946904				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Autonomic neuroscience. 2005 Jun;120(2-Jan):97-103	A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome.		104250	19514	2	2005	 Of the candidate genes screened, none harbored a SNP considered to be causally related to POTS. There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling.											
115723		schizophrenia; autism; alcoholism; attention deficit hyperactivity disorder; cocaine abuse; psychosis, puerperal	PSYCH	PSY	Schizophrenia	4	4p16	ADRA2C	3738093	3740051		Feng, J.  et al. 2001	11317218				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3	African American		CDC GDPinfo	152	Hs.123022			Molecular psychiatry. 2001 Mar;6(2):168-72	An in-frame deletion in the alpha(2C) adrenergic receptor is common in African-Americans		104250	15095	2	2001	Although these data do not suggest an association of TIDRU(1) with schizophrenia, additional studies are needed to see whether TIDRU(1) confers a clinical phenotype.	Control patients seen at Mayo clinic for non-psychiatric:complaints;Case:104:schizophrenics;Case:25 attention deficient/hyperactivity disorder;Case:25 autistic patients;Case:25 cocaine abusers;Case:30 puerperal psychosis patients;Case:41:alcoholics										
115724		schizophrenia	PSYCH	PSY	Cognition Disorders	4	4p16	ADRA2C	3738093	3740051		De Luca, V.  et al. 2005	15683753				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Pharmacological research. 2005 Apr;51(4):381-4	Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment.		104250	15096	2	2005			antipsychotic drug									
115725	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure	4	4p16	ADRA2C	3738093	3740051		Kaye, D. M.  et al. 2004	15542284				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Journal of the American College of Cardiology. 2004 Nov;44(10):2008-15	Interaction between cardiac sympathetic drive and heart rate in heart failure: modulation byadrenergic receptor genotype.		104250	15102	2	2004	 For the first time, we show that beta(2)-adrenoceptor polymorphisms significantly influence the relationship between heart rate and cardiac adrenergic drive in CHF, but do not affect the rate of norepinephrine release from sympathetic nerve terminals.	Cohort 60 patients with severe congestive heart failure 										
115720	Y	adrenomedullary hormone activity; sympathetic nervous function	UNKNOWN	UNK	Heart Failure|Genetic Predisposition to Disease	4	4p16	ADRA2C	3738093	3740051		Neumeister, A.  et al. 2005	15861038				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Pharmacogenetics and genomics. 2005 Mar;15(3):143-9	Sympathoneural and adrenomedullary functional effects of alpha2C-adrenoreceptor gene polymorphism in healthy humans.		104250	8501	2	2005	 In healthy people, alpha2CDel322-325 polymorphism is associated with increased sympathetic nervous and adrenomedullary hormonal activities, both during supine rest and during pharmacologically evoked catecholamine release. Polymorphisms of the alpha2C-adrenoreceptor may help explain individual differences in predisposition to a variety of disorders of catecholaminergic function, such as cardiovascular disorders, depression or anxiety disorders.	Cohort 29 healthy African-Americans 										
115721	Y	heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure	4	4p16	ADRA2C	3738093	3740051		Regitz-Zagrosek, V.  et al. 2005	16299019				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			European heart journal. 2006 Feb;27(4):454-9	{alpha}2C-Adrenoceptor polymorphism is associated with improved event-free survival in patients with dilated cardiomyopathy.		104250	8502	2	2005	 alpha(2C)-Adrenoceptor deletion may be a novel, strong, and independent predictor of reduced event rates in DCM patients treated according to guidelines.											
115722		congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	4	4p16	ADRA2C	3738093	3740051		Small, K. M.  et al. 2002	12374873				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			The New England journal of medicine. 2002 Oct;347(15):1135-42	Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure		104250	8508	2	2002	 The alpha2CDel322-325 and beta1Arg389 receptors act synergistically to increase the risk of heart failure in blacks. Genotyping at these two loci may be a useful approach for identification of persons at risk for heart failure or its progression, who may be candidates for early preventive measures.	Case:159 patients with heart failure;Control:189:controls		ADRA2C	alpha2CDel322-325	ADRB1	beta1Arg389			Y		heart failure
115717		blood pressure, arterial	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Belfer, I.  et al. 2004	15592690				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Journal of human genetics. 2005 ;50(1):20-Dec	Haplotype-based analysis of alpha 2A, 2B, and 2C adrenergic receptor genes captures information on common functional loci at each gene.		104260	20301	2	2004	The alpha(2)-AR haplotype maps and marker panels are useful tools for genetic linkage studies to detect effects of known and unknown alpha(2)-AR functional loci.	Cohort 96/96 Caucasians (n=96) and African Americans (n=96) 										
115718		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Etzel, J. P.  et al. 2005	15920038				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Hypertension. 2005 Jun;45(6):1207-13	Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variationand yohimbine response		104260	20302	2	2005			yohimbine									
115719		idiopathic orthostatic intolerance	OTHER	OTH	Hypotension, Orthostatic	2	2p13-q13	ADRA2B	96142349	96145615			15719258				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4		Austria	CDC GDPinfo	151	Hs.247686			International archives of occupational and environmental health. 2005 Apr;78(3):171-7	Functional adrenergic receptor polymorphisms and idiopathic orthostatic intolerance.		104260	20303	2	2005	 Our current results suggest that the beta1Gly49 polymorphism is protective for IOI. This is likely one of several common genetic loci that may represent modifiers of IOI phenotypes.											
115714	N	vascular response	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		King, D.  et al. 2005	15900285				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Clinical pharmacology and therapeutics. 2005 May;77(5):388-403	Human response to alpha2-adrenergic agonist stimulation studied in an isolated vascular bed in vivo: Biphasic influence of dose, age, gender, andreceptor genotype.		104260	15093	2	2005	 Local infusion into the human dorsal hand vein of a highly selective alpha 2 -adrenergic agonist, azepexole, produces biphasic responses, with venodilation at a low dose and intense venoconstriction at a higher concentration. These responses to azepexole show prominent differences as a function of age and gender but appear not to depend on common allelic variations at the ADRA2B receptor.	Cohort 50 healthy normotensive adults of both geners and 4 ethnicities 										
115715	Y	body mass	METABOLIC	MET		2	2p13-q13	ADRA2B	96142349	96145615		Phares, D. A.  et al. 2004	15166301				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Obesity research. 2004 May;12(5):807-15	Association Between Body Fat Response to Exercise Training and Multilocus ADR Genotypes		104260	15107	2	2004	The body fat response to exercise training in older adults is associated with the combined effects of the Glu(12)/Glu(9) alpha2b-, Trp64Arg beta3-, and Gln27Glu beta2-ADR gene variants and their gene-gene interactions.	Cohort 70 healthy, sedentary men (n = 29) and postmenopausal women (n = 41) 50 to 75 years of age, with a BMI Washington, DC 										
115716		blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Snapir, A.  et al. 2003	12519093				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Clin Sci (Lond).. 2003 May;104(5):509-20	Effects of common polymorphisms in the alpha 1A- alpha- 2B, beta 1-, and beta 2-adrenergic receptors on hemodynamic responses to adrenaline		104260	20300	2	2003	These results suggest that upon acute adrenaline infusion, the alpha 2B-AR D/D genotype confers increased vasoconstriction, and that the beta 2-AR GG genotype confers reduced vasodilatation.	Cohort 16 young, healthy men 	adrenaline									
115711	Y	obesity	METABOLIC	MET	Obesity	2	2p13-q13	ADRA2B	96142349	96145615		Sivenius, K.  et al. 2003	12917501				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Finnish		CDC GDPinfo	151	Hs.247686			Obesity research. 2003 Aug;11(8):962-70	A Deletion in the alpha(2B)-Adrenergic Receptor Gene and Autonomic Nervous Function in Central Obesity		104260	15089	2	2003	The results of the present study suggest that the 12Glu9 polymorphism of the alpha(2B)-adrenergic receptor gene modulates autonomic nervous function in Finnish nondiabetic men. In the nondiabetic men with the Glu(9)/Glu(9) genotype, the general autonomic tone is depressed, and vagal activity especially becomes impaired with time. Furthermore, this association is accentuated by central obesity.	Control:126 nondiabetic controls;Case:84 type 2 diabetic patients with data from a 10-year follow-up study										
115712	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Von Wowern, F.  et al. 2004	14744925				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Hypertension. 2004 Mar;43(3):592-7	Functional variant in the (alpha)2B adrenoceptor gene, a positional candidate on chromosome 2, associates with hypertension.		104260	15090	2	2004	Our data suggest that carriers of the DD versus II genotype of the alpha(2B)-adrenoceptor are at increased risk for hypertension. The genotypic effect is most evident when comparing groups corresponding to the upper and lower tails of the blood pressure distribution in the population; however, in nondiabetic hypertensive subjects it is weakly detectable even at the population level.	Control:817 population controls;Case:943 all known patients with primary hypertension in Skara (n=772 nondiabetic subjects; n=171 normoalbuminuric type 2 diabetic subjects):Sweden										
115713		vascular response	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Muszkat, M.  et al. 2005	15900214				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Pharmacogenetics and genomics. 2005 Jun;15(6):407-14	Variation in the alpha2B-adrenergic receptor gene (ADRA2B) and its relationship to vascular response in vivo.		104260	15092	2	2005	We have described novel variants and haplotypes of the ADRA2B gene. These do not alter sensitivity to a selective alpha2-adrenergic receptor agonist but some may decrease maximal venoconstriction in vivo.	Cohort 68 individuals 	dexmedetomidine									
115708		cardiovascular disease risk factors	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615			16336817				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Chinese medical journal. 2005 Nov;118(21):1797-802	ADRA2B gene insertion/deletion polymorphism and artery compliance		104260	8500	2	2005	 The study do not support that the ADRA2B gene I/D polymorphism has a major gene effect on C1 or C2 in the Chinese population of current sample size.											
115709		glucose tolerance; insulin; blood pressure; body weight; C-peptide; HbA1c	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Gain	2	2p13-q13	ADRA2B	96142349	96145615		Sivenius, K.  et al. 2001	11753579				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Finnish	Finland	CDC GDPinfo	151	Hs.247686			International journal of obesity and related metabolic disorders. 2001 Nov;25(11):1609-14	Effect of a three-amino acid deletion in the alpha2B-adrenergic receptor gene on long-term body weight change in Finnish non-diabetic and type 2 diabetic subjects		104260	15087	2	2001	 The genotype of two short alleles (Glu9/Glu9) was associated with an increase in body weight among non-diabetic subjects.	Control:126 non-diabetic control subjects;Case:84 newly diagnosed, middle-aged type 2 diabetic:patients eastern Finland										
115710	Y	myocardial infarct; cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Myocardial Infarction|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Snapir, A.  et al. 2003	12535806				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Journal of the American College of Cardiology. 200	Variation in the alpha(2B)-adrenoceptorgene as a risk factor for prehospitalfatal myocardial infarction and sudden cardiac death		104260	15088	2	2003	 Middle-aged white men carrying the DD genotype of the alpha(2B)-AR have a significantly increased risk for SCD and AMI, especially before the age of 55 years.	Cohort 700 unselected sudden out-of-hospital deaths of middle-aged white men Cohort 912 middle-aged men 										
115705		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Talke, P.  et al. 2005	15864138				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Pharmacogenetics and genomics. 2005 May;15(5):357-63	Alpha-2B adrenoceptor polymorphism and peripheral vasoconstriction.		104260	8497	2	2005	 The results of this study confirm that the alpha-2 agonist dexmedetomidine induced marked peripheral vasoconstriction. Subjects with the alpha 2B DD genotype had an enhanced vasoconstrictive response at the beginning of dexmedetomidine infusion. However, this enhanced vasoconstrictive response was not sustained throughout or after the 15-min dexmedetomidine infusion.	Cohort 80 surgical patients in whom sympatholytic effects of the drug were attenuated by general anesthesia 										
115706		cardiac autonomic responsiveness	CARDIOVASCULAR	CARD	Obesity	2	2p13-q13	ADRA2B	96142349	96145615		Ueno, L. M.  et al. 2005	16247508				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			International journal of obesity (2005). 2006 Feb;30(2):214-20	alpha(2B)-Adrenergic receptor deletion polymorphism and cardiac autonomic nervous system responses to exercise in obese women.		104260	8498	2	2005												
115707		hypertension; insulin; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Body Weight	2	2p13-q13	ADRA2B	96142349	96145615		Zhang, H.  et al. 2005	16269962				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Chinese		CDC GDPinfo	151	Hs.247686			Journal of hypertension. 2005 Dec;23(12):2201-7	Cardiovascular and metabolic phenotypes in relation to the ADRA2B insertion/deletion polymorphism in a Chinese population.		104260	8499	2	2005	 In Chinese men, the I allele of the ADRA2B gene is associated with higher blood pressure, but also with a more favourable metabolic phenotype.											
115702		diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p13-q13	ADRA2B	96142349	96145615		Siitonen, N.  et al. 2004	15309292				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Finnish	Finland	CDC GDPinfo	151	Hs.247686			Diabetologia. 2004 Aug;47(8):1416-24	Association between a deletion/insertion polymorphism in the alpha2B-adrenergic receptor gene and insulin secretion and Type 2 diabetes. The Finnish Diabetes Prevention Study.		104260	8494	2	2004	The 12Glu9 polymorphism of ADRA2B is associated with impaired first-phase insulin secretion and may predict the development of Type 2 diabetes in subjects with impaired glucose tolerance who are not subjected to a lifestyle intervention.	Cohort 506 subjects with impaired glucose tolerance participating in the Finnish Diabetes Prevention Study 										
115703	N	blood flow; blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Talke, P.  et al. 2005	15731590				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Anesthesiology. 2005 Mar;102(3):536-42	Effect of alpha2B-adrenoceptor polymorphism on peripheral vasoconstriction in healthy volunteers.		104260	8495	2	2005	 The results of this study confirm the alpha2 agonist induced vasomotor and hemodynamic effects in peripheral vasculature. However, the results do not support the hypothesis that alpha2B-adrenoceptor polymorphism has an effect on peripheral vasoconstriction in humans.	Cohort 16 healthy young volunteers 	dexmedetomidine									
115704		vasoconstriction	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Muszkat, M.  et al. 2005	15864122				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Pharmacogenetics and genomics. 2005 Jan;15(1):23-8	Alpha2B adrenergic receptor 301-303 deletion polymorphism and vascular alpha2 adrenergic receptor response.		104260	8496	2	2005	These findings suggest that the del301-303 polymorphism does not contribute significantly to interindividual in vivo variability in response to alpha2-AR activation in the hand vein.	Cohort 49 subjects 	dexmedetomidine									
115699		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Snapir, A.  et al. 2001	11345359				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4		Finland	CDC GDPinfo	151	Hs.247686			Journal of the American College of Cardiology. 2001 May;37(6):1516-22	An insertion/deletion polymorphism in the alpha2B-adrenergic receptor gene is a novel genetic risk factor for acute coronary events.		104260	8491	2	2001	 The D/D genotype of the alpha2B-adrenoceptor is a novel genetic risk factor for acute coronary events, but not for hypertension.	Cohort 912 men aged 46-64 years, that were part of a prospective population-based study investigating firsk factors for CVD Finland 										
115700	Y	intima-media thickness; flow-mediated dilation of the brachial artery	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Heinonen, P.  et al. 2002	12401126				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDPinfo	151	Hs.247686			Clin Sci (Lond).. 2002 Nov;103(5):517-24	Deletion polymorphism in the alpha2B-adrenergic receptor gene is associated with flow-mediated dilatation of the brachial artery.		104260	8492	2	2002	These findings indicate that subjects homozygous for the deletion allele of alpha(2B)-AR appear to have an increased risk of impaired endothelial function, which may provide an explanation for the previously observed increased risk of myocardial infarction in male subjects with this genotype. It is not known whether the association of the alpha(2B)-AR polymorphism with endothelial function is direct, or is mediated via altered sympathetic activation.	Cohort 148 middle-aged men participating in an epidemiological twin study on risk factors for subclinical coronary heart disease 										
115701	Y	body mass; insulin; glucose; nervous system activity	METABOLIC	MET		2	2p13-q13	ADRA2B	96142349	96145615		Suzuki, N.  et al. 2003	12629104				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Japanese		CDC GDPinfo	151	Hs.247686			The Journal of clinical endocrinology and metabolism. 2003 Mar;88(3):1184-7	Alpha(2B)-adrenergic receptor deletion polymorphism associates with autonomic nervous system activity in young healthy Japanese.		104260	8493	2	2003	These findings suggest that the alpha(2B)AR deletion polymorphism might result in metabolic disorder by altering ANS function.	Cohort 381 young healthy Japanese males 										
115696		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	10	10q24-q26	ADRA2A	112826910	112830560		Matayoshi, T.  et al. 2004	15824464				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		104210	26780	2	2004			thiazide diuretics									
115697	Y	ANS function	METABOLIC	MET		2	2p13-q13	ADRA2B	96142349	96145615		Suzuki N 2003	12629104				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Japanese		KEW	151	Hs.247686			The Journal of clinical endocrinology and metabolism. 2003 Mar;88(3):1184-7	Alpha(2B)-adrenergic receptor deletion polymorphism associates with autonomic nervous system activity in young healthy Japanese.		104260	157	1	2003	These findings suggest that the alpha(2B)AR deletion polymorphism might result in metabolic disorder by altering ANS function.	Cohort 381 young healthy Japanese males										
115698		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Gain	2	2p13-q13	ADRA2B	96142349	96145615		Sivenius K 2001	11753579				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Finnish	Finland	Y Wang	151	Hs.247686	Complications		International journal of obesity and related metabolic disorders. 2001 Nov;25(11):1609-14	Effect of a three-amino acid deletion in the alpha2B-adrenergic receptor gene on long-term body weight change in Finnish non-diabetic and type 2 diabetic subjects.		104260	158	1	2001	 The genotype of two short alleles (Glu9/Glu9) was associated with an increase in body weight among non-diabetic subjects.	Control:126 non-diabetic control subjects;Case:84 newly diagnosed, middle-aged type 2 diabetic:patients eastern Finland										
115693	N	temperament	PSYCH	PSY		10	10q24-q26	ADRA2A	112826910	112830560		Tsai, S. J.  et al. 2001	11425010				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			American journal of medical genetics. 2001 Jan;105(1):96-8	Allelic variants of the alpha1a adrenoceptor and the promoter region of the alpha2a adrenoceptor and temperament factors.		104210	20298	2	2001	Our negative findings suggest that polymorphisms of the alpha1a adrenoceptor and of the promoter region of the alpha2a-adrenoceptor have no major effect on the reward-dependence personality trait as assessed by TPQ.	Cohort 198 healthy Han Chinese 										
115694		blood pressure; heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRA2A	112826910	112830560		McCaffery, J. M.  et al. 2002	12023679				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Journal of hypertension. 2002 Jun;20(6):1105-14	Variability within alpha- and beta-adrenoreceptor genes as a predictor of cardiovascular function at rest and in response to mental challenge.		104210	20299	2	2002	These results indicate that some polymorphic variation within adrenoreceptor genes contributes to interindividual variability in resting SBP and DBP and in DBP response to mental challenge.	Cohort 309 European-American, young adult men and women (including 101 monozygotic and 44 dizygotic twin pairs) 										
115695		hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRA2A	112826910	112830560		Liljedahl, U.  et al. 2003	12544508				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		104210	23960	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115690		blood pressure, arterial	CARDIOVASCULAR	CARD		10	10q24-q26	ADRA2A	112826910	112830560		Belfer, I.  et al. 2004	15592690				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Journal of human genetics. 2005 ;50(1):20-Dec	Haplotype-based analysis of alpha 2A, 2B, and 2C adrenergic receptor genes captures information on common functional loci at each gene.		104210	15091	2	2004	The alpha(2)-AR haplotype maps and marker panels are useful tools for genetic linkage studies to detect effects of known and unknown alpha(2)-AR functional loci.	Cohort 96/96 Caucasians (n=96) and African Americans (n=96) 										
115691		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	10	10q24-q26	ADRA2A	112826910	112830560		Etzel, J. P.  et al. 2005	15920038				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Hypertension. 2005 Jun;45(6):1207-13	Genetic variation at the human alpha2B-adrenergic receptor locus: role in blood pressure variationand yohimbine response		104210	15094	2	2005			yohimbine									
115692	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Bobb, A. J.  et al. 2005	15717291				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		104210	18549	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
115687	Y	suicide	PSYCH	PSY	Impulse Control Disorders|Personality Disorders	10	10q24-q26	ADRA2A	112826910	112830560		Sequeira, A.  et al. 2004	15006432				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Psychiatry research. 2004 Feb;125(2):87-93	Alpha 2A adrenergic receptor gene and suicide.		104210	15084	2	2004	These results are preliminary. If confirmed, they suggest that variation at the alpha(2A) adrenergic receptor gene may play a role in a small proportion of suicide cases.	Case:110:suicides;Control:130:controls										
115688		attention deficit hyperactivity disorder; reading disability	PSYCH	PSY	Dyslexia|Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Stevenson, J.  et al. 2005	16178932				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2		Great Britain	CDC GDPinfo	150	Hs.249159			Journal of child psychology and psychiatry, and allied disciplines. 2005 Oct;46(10):1081-8	Attention deficit hyperactivity disorder with reading disabilities: preliminary genetic findingson the involvement of the ADRA2A gene.		104210	15085	2	2005	 The preliminary evidence together with other neurobiological research findings suggests that the ADRA2A gene may contribute to comorbid ADHD and RD and needs to be properly examined.											
115689	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560			16389583				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):130-4	Possible association of the alpha-2A adrenergic receptor gene (ADRA2A) with symptoms of attention-deficit/hyperactivity disorder		104210	15086	2	2006												
115684	Y	body mass	METABOLIC	MET	Genetic Predisposition to Disease	10	10q24-q26	ADRA2A	112826910	112830560		Garenc, C.  et al. 2002	12080184				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2		Canada|United States	CDC GDPinfo	150	Hs.249159			Molecular medicine (Cambridge, Mass). 2002 Feb;8(2):88-94	The alpha 2-adrenergic receptor gene and body fat content and distribution: the HERITAGE FamilyStudy.		104210	15081	2	2002	 These results suggest a role for the ADRA2A gene in determining the propensity to store fat in the abdominal area, independently of total body fatness.	Cohort 779 adult sedentary white (n = 503) and black (n = 276) subjects participating in the HERITAGE Family Study 										
115685	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Mental Disorders	10	10q24-q26	ADRA2A	112826910	112830560		Comings, D. E.  et al. 2003	12627476				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):110-4	A "line item" approach to the identification of genes involved in polygenic behavioral disorders:the adrenergic alpha2A (ADRA2A) gene.		104210	15082	2	2003	These results showed that the ADRA2A gene was associated with symptoms of autonomic, sympathetic dysfunction from different diagnostic groups. The advantages of the "line item" approach include (a) the identification of the symptoms associated with each allele, (b) the identification of symptom clusters independent of DSM diagnoses, (c) the elucidation of heterosis and other mode of inheritance effects, (d) the distinction between an association with a primary disorder versus a comorbid disorder, (e) the identification of associations with sub-syndromal symptom clusters that do meet full DSM-IV criteria, and (f) the identification of symptom clusters across databases.	Case individuals with Tourette syndrome;Control:controls										
115686	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Roman, T.  et al. 2003	12815749				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):116-20	Is the alpha-2A adrenergic receptor gene (ADRA2A) associated with attention-deficit/hyperactivity disorder?		104210	15083	2	2003	Our results suggest that the ADRA2A gene might have a small effect on ADHD susceptibility or that this gene might modulate the severity of the disorder. They are also consistent with the noradrenergic theories of ADHD, suggesting a role for the alpha2A adrenergic receptors in the disorder.											
115681	Y	gastrointestinal disorders	UNKNOWN	UNK	Irritable Bowel Syndrome|Constipation	10	10q24-q26	ADRA2A	112826910	112830560		Kim, H. J.  et al. 2004	15138209				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Gut. 2004 Jun;53(6):829-37	Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders.		104210	13786	2	2004	 Functionally distinct alpha(2A) and alpha(2C) adrenoceptor and serotonin transporter polymorphisms are associated with constipation and high somatic symptoms in patients with lower functional gastrointestinal disorders, although the strength of the genetic contribution to the phenotype is unclear.	Control:controls;Case:90/128/38 patients with lower functional gastrointestinal disorders (with IBS constipation (n=90), IBS diarrhoea (n=128), IBS alternating bowel function (n=38) and chronic abdominal pain (n=20)										
115682	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight|Thinness	10	10q24-q26	ADRA2A	112826910	112830560		Hamann, A.  et al. 2001	11248750				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			European journal of endocrinology. 2001 Mar;144(3):291-5	Identification of a deletion variant in the gene encoding the human alpha(2A)-adrenergic receptor.		104210	15079	2	2001	 Our data suggest that variants in the alpha(2A)-adrenergic receptor gene are unlikely to contribute to the predisposition for the lean or obese state.											
115678		idiopathic orthostatic intolerance	OTHER	OTH	Hypotension, Orthostatic	10	10q24-q26	ADRA2A	112826910	112830560			15719258				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2		Austria	CDC GDPinfo	150	Hs.249159			International archives of occupational and environmental health. 2005 Apr;78(3):171-7	Functional adrenergic receptor polymorphisms and idiopathic orthostatic intolerance.		104210	8520	2	2005	 Our current results suggest that the beta1Gly49 polymorphism is protective for IOI. This is likely one of several common genetic loci that may represent modifiers of IOI phenotypes.											
115679		endurance	NORMALVARIATION	NV		10	10q24-q26	ADRA2A	112826910	112830560		Wolfarth, B.  et al. 2000	11039642				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Medicine and science in sports and exercise. 2000 Oct;32(10):1709-12	A polymorphism in the alpha2a-adrenoceptor gene and endurance athlete status.		104210	8527	2	2000	 In summary, we found evidence that ADRA2A gene variability detected with Dra I is weakly associated with elite endurance athlete status, and we conclude that genetic variation in the ADRA2A gene or a locus in close proximity may play a role in being able to sustain the endurance training regimen necessary to attain a high level of maximal aerobic power.	Cohort 149 unrelated sedentary male subjects 										
115680		hyperuicemia	METABOLIC	MET	Insulin Resistance|Hyperuricemia	10	10q24-q26	ADRA2A	112826910	112830560		Masuo, K.  et al. 2005	15939803				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Hypertension. 2005 Jul;46(1):144-50	Lys418Asn polymorphism of the alpha2-adrenoceptor gene relates to serum uric acid levels but not to insulin sensitivity.		104210	8541	2	2005												
115675	Y	body mass; insulin; lipids; obesity; glucose; blood pressure; cortisol, salivary; leptin; leptin; testosterone	METABOLIC	MET	Insulin Resistance|Obesity	10	10q24-q26	ADRA2A	112826910	112830560		Rosmond, R.  et al. 2002	11886485			promoter	Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Journal of internal medicine. 2002 Mar;251(3):252-7	A C-1291G polymorphism in the alpha2A-adrenergic receptor gene (ADRA2A) promoter is associated with cortisol escape from dexamethasone and elevated glucose levels.		104210	8488	2	2002	 In conclusion, we have shown that an C --> G polymorphism at position -1291 of the ADRA2A gene is associated with a subnormal cortisol response to dexamethasone, elevated glucose levels and perhaps increased diastolic blood pressure. The pathophysiology could involve an altered density of the alpha2A-AR that destabilizes the sympathetic-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability in the alpha2A-adrenergic receptor gene promoter.	Cohort 284 urelated Swedish men born in 1944 Sweden 										
115676	N	Parkinson's disease; schizophrenia; tardive dyskinesia	NEUROLOGICAL	NEUR	Parkinson Disease|Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	10	10q24-q26	ADRA2A	112826910	112830560		Hong, C. J.  et al. 2005	15719154				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2	Chinese		CDC GDPinfo	150	Hs.249159			J Neural Transm. 2005 Nov;112(11):1503-10	Association studies of the adenosine A2a receptor (1976T > C) genetic polymorphism in Parkinson's disease and schizophrenia.		104210	8489	2	2005	Our findings suggest that it is unlikely that the A2aAR 1976T>C polymorphism plays a major role in the pathogenesis of PD, schizophrenia, or antipsychotic-induced tardive dyskinesia in the Chinese population.	Control:controls;Case:94/227 Chinese Parkinson's disease (n=94) and:schizophrenic (n=227) cases										
115677	N	suicide; depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	10	10q24-q26	ADRA2A	112826910	112830560		Martin-Guerrero, I.  et al. 2005	16333651				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Psychopharmacology. 2006 Jan;184(1):82-6	The N251K functional polymorphism in the alpha(2A)-adrenoceptor gene is not associated with depression: a study in suicide completers		104210	8490	2	2005	 The N251K polymorphism does not represent a genetic factor to explain the alpha(2A)-adrenoceptor hyperactivity in the brains of depressed suicide victims. Association between suicide and this polymorphism was not replicated.											
115672	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10q24-q26	ADRA2A	112826910	112830560		Tsai, S.  et al. 2001	11343863			promoter	Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Schizophrenia research. 2001 Apr;49(2-Jan):53-8	Association analysis of polymorphism in the promoter region of the alpha2a-adrenoceptor gene with schizophrenia and clozapine response.		104210	8485	2	2001	The polymorphism of the alpha2a-adrenoceptor gene investigated is not likely to play a major role in the pathogenesis of schizophrenic disorders or clozapine response, although the hypothesis that these genes are implicated in the cognitive deficit and polydipsia associated with schizophrenic disorders may, however, still warrant further study.	Cohort 97 treatment-resistant schizophrenic patients 	clozapine									
115673		blood pressure	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRA2A	112826910	112830560		Fossum, E.  et al. 2001	11467765				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Blood pressure. 2001 ;10(2):92-100	Polymorphisms in candidate genes for blood pressure regulation in young men with normal or elevated screening blood pressure		104210	8486	2	2001	Thus, in this explorative study, we report an association between insulin sensitivity and a polymorphism at the alpha(2A)AR locus. We suggest the presence of gene-gene interactions in the renin-angiotensin system and the sympathetic nervous system.	Control:18 men with normal screening blood pressure;Case:67 men with high screening blood pressure	stress									
115674		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24-q26	ADRA2A	112826910	112830560		Hong, C. J.  et al. 2001	11475011				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			J Neural Transm. 2001 ;108(4):445-50	A study of alpha-adrenoceptor gene polymorphisms and Alzheimer disease		104210	8487	2	2001	The hypothesis that the alpha1a-adrenoceptor gene may be implicated in the pathogenesis of AD may deserve further study.	Case:142 Alzheimer's disease patients;Control:98 normal controls										
115669	Y	Adiposity and Abdominal Obesity	METABOLIC	MET	Obesity	10	10q24-q26	ADRA2A	112826910	112830560	p=0.017??	Ukkola O 2001	11571596	Beta 2-ADR ??			Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2	Quebec	Quebec	TJB	150	Hs.249159			International journal of obesity and related metabolic disorders. 2001 Sep;25(9):1332-9			104210	155	1	2001	 There is an association between the GRL BclI polymorphism and increased AVF levels independent of the level of total body fat. The alpha 2-ADR DraI variant is associated with a lower cross-sectional area of abdominal total fat. Numerous interactions between GRL and ADR markers on overall adiposity and total abdominal fat as well as between GRL, LPL and ADR genes on overall adiposity, abdominal total and visceral fat suggest that the genetic architecture of body fat content and adipose tissue distribution is complex although some genes, like GRL, may have ubiquitous effects.											
115670	Y	irritability hostility impulsivity and memory	PSYCH	PSY		10	10q24-q26	ADRA2A	112826910	112830560		Comings DE et al. 2000	10909127				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			KGB	150	Hs.249159			Psychiatric genetics. 2000 Mar;10(1):39-42	Association between the adrenergic alpha 2A receptor gene (ADRA2A) and measures of irritability hostility impulsivity and memory in normal subjects.		104210	156	1	2000												
115671	Y	cortisol escape from dexamethasone and elevated glucose levels	METABOLIC	MET	Insulin Resistance|Obesity	10	10q24-q26	ADRA2A	112826910	112830560		Rosmond R et al. 2002	11886485			promoter	Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			KGB	150	Hs.249159			Journal of internal medicine. 2002 Mar;251(3):252-7	A C-1291G polymorphism in the alpha2A-adrenergic receptor gene (ADRA2A) promoter is associated with cortisol escape from dexamethasone and elevated glucose levels.		104210	7589	1	2002	 In conclusion, we have shown that an C --> G polymorphism at position -1291 of the ADRA2A gene is associated with a subnormal cortisol response to dexamethasone, elevated glucose levels and perhaps increased diastolic blood pressure. The pathophysiology could involve an altered density of the alpha2A-AR that destabilizes the sympathetic-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability in the alpha2A-adrenergic receptor gene promoter.	Cohort 284 urelated Swedish men born in 1944 Sweden										
115666		blood pressure; heart rate	CARDIOVASCULAR	CARD		5	5q23-q32	ADRA1B	159276317	159332595		McCaffery, J. M.  et al. 2002	12023679				Adrenergic, alpha-1B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000679.3			CDC GDPinfo	147	Hs.368632			Journal of hypertension. 2002 Jun;20(6):1105-14	Variability within alpha- and beta-adrenoreceptor genes as a predictor of cardiovascular function at rest and in response to mental challenge.		104220	15097	2	2002	These results indicate that some polymorphic variation within adrenoreceptor genes contributes to interindividual variability in resting SBP and DBP and in DBP response to mental challenge.	Cohort 309 European-American, young adult men and women (including 101 monozygotic and 44 dizygotic twin pairs) 										
115667		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	5	5q23-q32	ADRA1B	159276317	159332595		Matayoshi, T.  et al. 2004	15824464				Adrenergic, alpha-1B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000679.3			CDC GDPinfo	147	Hs.368632			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		104220	25816	2	2004			thiazide diuretics									
115668	Y	interstitial cystitis	INFECTION	INF	Cystitis, Interstitial	20	20p13	ADRA1D	4149815	4177659		Sugaya, K.  et al. 2002	12442007				Adrenergic, alpha-1D-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000678.2			CDC GDPinfo	146	Hs.557			The Journal of urology. 2002 Dec;168(6):2668-71	Molecular analysis of adrenergic receptor genes and interleukin-4/interleukin-4 receptor genes in patients with interstitial cystitis.		104219	17753	2	2002	 Variants of the ADRB2, ADRA1d and IL-4 genes may be related to a predisposition to interstitial cystitis.	Control:228:controls;Case:55 patients with interstitial cystitis										
115663		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	8	8p21-p11.2	ADRA1A	26661583	26778839		Klotsman, M.  et al. 2004	15136785				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			The pharmacogenomics journal. 2004 ;4(4):251-9	A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH.		104219	15327	2	2004	The process(es) in which these silent single-nucleotide polymorphisms (SNPs) influence BPH phenotypes is unknown and additional studies will be needed to assess whether these SNPs have direct functional consequences. The characterization of additional molecular factors that contribute to static and dynamic obstruction may help predict response to pharmacotherapy and serve to identify novel drug targets for the clinical management of BPH.	Cohort men with a clinical diagnosis of benign prostatic hyperplasia 										
115664		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p21-p11.2	ADRA1A	26661583	26778839		Liljedahl, U.  et al. 2003	12544508				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		104219	20297	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115665		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	8	8p21-p11.2	ADRA1A	26661583	26778839		Matayoshi, T.  et al. 2004	15824464				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		104219	23959	2	2004			thiazide diuretics									
115660		hypertension	CARDIOVASCULAR	CARD		8	8p21-p11.2	ADRA1A	26661583	26778839		Jiang, S.  et al. 2005	16153395				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680	Chinese		CDC GDPinfo	148	Hs.52931			Clinical pharmacology and therapeutics. 2005 Sep;78(3):239-48	Individual and joint association of alpha1A-adrenergic receptor Arg347Cys polymorphism and plasma irbesartan concentration with blood pressure therapeutic response in Chinese hypertensive subjects.		104219	8484	2	2005	 Our data suggest that the alpha1A-AR Arg347Cys polymorphism is associated with BP response (particularly DBP) to short-term irbesartan treatment. Our data also showed evidence of an interaction between the alpha1A-AR Arg347Cys polymorphism and the plasma level of irbesartan in relation to BP therapeutic response. The association of the Arg347Cys polymorphism with the BP therapeutic response was more pronounced in those patients with higher plasma concentrations of irbesartan.		irbesartan									
115661		blood pressure, arterial; heart rate; adrenaline; coronary flow velocity; ECG; noradrenaline	CARDIOVASCULAR	CARD		8	8p21-p11.2	ADRA1A	26661583	26778839		Snapir, A.  et al. 2003	12519093				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			Clin Sci (Lond).. 2003 May;104(5):509-20	Effects of common polymorphisms in the alpha 1A- alpha- 2B, beta 1-, and beta 2-adrenergic receptors on hemodynamic responses to adrenaline		104219	8509	2	2003	These results suggest that upon acute adrenaline infusion, the alpha 2B-AR D/D genotype confers increased vasoconstriction, and that the beta 2-AR GG genotype confers reduced vasodilatation.	Cohort 16 young, healthy men 	adrenaline									
115662	N	temperament	PSYCH	PSY		8	8p21-p11.2	ADRA1A	26661583	26778839		Tsai, S. J.  et al. 2001	11425010			promoter	Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			American journal of medical genetics. 2001 Jan;105(1):96-8	Allelic variants of the alpha1a adrenoceptor and the promoter region of the alpha2a adrenoceptor and temperament factors.		104219	15078	2	2001	Our negative findings suggest that polymorphisms of the alpha1a adrenoceptor and of the promoter region of the alpha2a-adrenoceptor have no major effect on the reward-dependence personality trait as assessed by TPQ.	Cohort 198 healthy Han Chinese 										
115657		benign prostatic hypertrophy	OTHER	OTH	Prostatic Hyperplasia	8	8p21-p11.2	ADRA1A	26661583	26778839		Shibata K et al. 1996	8832064				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			KGB	148	Hs.52931			British journal of pharmacology. 1996 Jul;118(6):1403-8	Alpha 1a-adrenoceptor polymorphism: pharmacological characterization and association with benign prostatic hypertrophy.		104219	154	1	1996												
115658		vascular response	CARDIOVASCULAR	CARD		8	8p21-p11.2	ADRA1A	26661583	26778839		Sofowora, G. G.  et al. 2004	15179408				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDPinfo	148	Hs.52931			Clinical pharmacology and therapeutics. 2004 Jun;75(6):539-45	Alpha 1A-adrenergic receptor polymorphism and vascular response.		104219	8482	2	2004	 We conclude that the Arg347Cys receptor polymorphism does not alter agonist-mediated venoconstriction in vivo.	Cohort 74 healthy, nonsmoking adults 										
115659	Y	schizophrenia; schizoaffective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	8	8p21-p11.2	ADRA1A	26661583	26778839		Clark, D. A.  et al. 2005	16043131			promoter	Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680	Spanish	Spain	CDC GDPinfo	148	Hs.52931			Biological psychiatry. 2005 Sep;58(6):435-9	Polymorphisms in the promoter region of the alpha1A-adrenoceptor gene are associated with schizophrenia/schizoaffective disorder in a Spanish isolate population.		104219	8483	2	2005	 Because of the strength of these results and the location of these SNPs in the regulatory region of this gene, functional studies investigating the possible influence of these SNPs on receptor expression levels in schizophrenia are warranted.											
115654	Y	anxiety disorder	PSYCH	PSY		22	22q11.23	ADORA2A	23143708	23168325		Alsene, K.  et al. 2003	12825092				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDPinfo	135	Hs.197029			Neuropsychopharmacology. 2003 Sep;28(9):1694-702	Association between A2a receptor gene polymorphisms and caffeine-induced anxiety.		102776	20296	2	2003	The study shows that an adenosine receptor gene polymorphism that has been associated with Panic Disorder is also associated with anxiogenic responses to an acute dose of caffeine.	Cohort 94 healthy, infrequent caffeine users 	caffeine									
115655		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	22	22q11.23	ADORA2A	23143708	23168325		Wright, K.  et al. 2004	15257174				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDPinfo	135	Hs.197029			Journal of hypertension. 2004 Aug;22(8):1519-22	The role of adenosine-related genes variants in susceptibility to essential hypertension.		102776	23958	2	2004	 The adenosine-related gene variants do not appear to alter susceptibility to the disease in this group of essential hypertensives. However, involvement of these genes and the adenosine system cannot be conclusively excluded from essential hypertension pathogenesis as other gene variants may still be involved.	Case:249 unrelated hypertensive individuals;Control:249 normotensive controls										
115656	N	urinary incontinence	OTHER	OTH	Urinary Incontinence|Schizophrenia	8	8p21-p11.2	ADRA1A	26661583	26778839	n	Hsu JW et al. 2000	10940760				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			KGB	148	Hs.52931			Neuropsychobiology. 2000 ;42(2):62-5	No evidence for association of alpha 1a adrenoceptor gene polymorphism and clozapine-induced urinary incontinence.		104219	153	1	2000												
115651		panic disorder	PSYCH	PSY	Panic Disorder	22	22q11.23	ADORA2A	23143708	23168325		Hamilton SP 2004	14666117				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			KGB	135	Hs.197029			Neuropsychopharmacology. 2004 Mar;29(3):558-65	Evidence for genetic linkage between a polymorphism in the adenosine 2A receptor and panic disorder.		102776	146	1	2004												
115652		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	22	22q11.23	ADORA2A	23143708	23168325		Lam, P.  et al. 2005	15774265				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3	Chinese		CDC GDPinfo	135	Hs.197029			Neuroscience letters. 2005 Apr;378(2):98-101	Association study of A2a adenosine receptor genetic polymorphism in panic disorder.		102776	8481	2	2005	These findings suggested that it is unlikely that the A2aAR 1976T>C polymorphism plays a major role in panic disorder pathogenesis in the Chinese population. The positive association between this polymorphism and panic disorder found in western population but not in Asian population suggests that this association could be ethnicity-dependent. The 1976C>T polymorphism may be in linkage disequilibrium with a functional variant that affects panic disorder, and the extent of this linkage disequilibrium is not similar for all ethnic populations.	Case:104 Chinese panic disorder patients;Control:192 normal controls										
115653	N	panic disorder	PSYCH	PSY	Panic Disorder	22	22q11.23	ADORA2A	23143708	23168325		Yamada, K.  et al. 2001	11515749				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDPinfo	135	Hs.197029			J Neural Transm. 2001 ;108(7):837-48	Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder.		102776	15077	2	2001	Our data therefore suggests that the CCKBR and A2aAR genes do not play major roles in the development of this disease.	Control:100 matched controls (not otherwise specified in:abstract);Case:91 unrelated panic disorder patients										
115647	N	panic disorder	PSYCH	PSY	Panic Disorder	22	22q11.23	ADORA2A	23143708	23168325	n	Yamada K et al. 2001	11515749				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			KGB	135	Hs.197029			J Neural Transm. 2001 ;108(7):837-48	Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder.		102776	142	1	2001	Our data therefore suggests that the CCKBR and A2aAR genes do not play major roles in the development of this disease.	Control:100 matched controls (not otherwise specified in:abstract);Case:91 unrelated panic disorder patients										
115648	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	22	22q11.23	ADORA2A	23143708	23168325	n	Soma M et al. 1998	9880133				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			KGB	135	Hs.197029			American journal of hypertension. 1998 Dec;11(12):1492-4	A T1083C polymorphism in the human adenosine A2a receptor gene is not associated with essential hypertension.		102776	143	1	1998												
115649	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	22	22q11.23	ADORA2A	23143708	23168325	P=0.01	Deckert J et al. 1998	9491818	1083C/T			Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			KGB	135	Hs.197029			Molecular psychiatry. 1998 Jan;3(1):81-5	Systematic mutation screening and association study of the A1 and A2a adenosine receptor genes in panic disorder suggest a contribution of the A2a gene to the development of disease.		102776	144	1	1998												
115643		Panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	1	1q32.1	ADORA1	201363458	201403156		Deckert J et al. 1998	9491818				Adenosine A1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000674.1			KGB	134	Hs.77867			Molecular psychiatry. 1998 Jan;3(1):81-5	Systematic mutation screening and association study of the A1 and A2a adenosine receptor genes in panic disorder suggest a contribution of the A2a gene to the development of disease.		102775	140	1	1998												
115644		bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1q32.1	ADORA1	201363458	201403156		Deckert J et al. 1998	9514582				Adenosine A1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000674.1			KGB	134	Hs.77867			American journal of medical genetics. 1998 Feb;81(1):18-23	Adenosine A1 receptor and bipolar affective disorder: systematic screening of the gene and association studies.		102775	141	1	1998												
115645	Y	anxiety disorder	PSYCH	PSY		1	1q32.1	ADORA1	201363458	201403156		Alsene, K.  et al. 2003	12825092				Adenosine A1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000674.1			CDC GDPinfo	134	Hs.77867			Neuropsychopharmacology. 2003 Sep;28(9):1694-702	Association between A2a receptor gene polymorphisms and caffeine-induced anxiety.		102775	8480	2	2003	The study shows that an adenosine receptor gene polymorphism that has been associated with Panic Disorder is also associated with anxiogenic responses to an acute dose of caffeine.	Cohort 94 healthy, infrequent caffeine users 	caffeine									
115646		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32.1	ADORA1	201363458	201403156		Wright, K.  et al. 2004	15257174				Adenosine A1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000674.1			CDC GDPinfo	134	Hs.77867			Journal of hypertension. 2004 Aug;22(8):1519-22	The role of adenosine-related genes variants in susceptibility to essential hypertension.		102775	20295	2	2004	 The adenosine-related gene variants do not appear to alter susceptibility to the disease in this group of essential hypertensives. However, involvement of these genes and the adenosine system cannot be conclusively excluded from essential hypertension pathogenesis as other gene variants may still be involved.	Case:249 unrelated hypertensive individuals;Control:249 normotensive controls										
115639	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.4	ADM	10283206	10285499		Ishimitsu T 2003	12753312				Adrenomedullin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001124.1		Japan	Y Wang	133	Hs.441047	Complications		Kidney international. 2003 Jun;63(6):2230-5	Microsatellite DNA polymorphism of human adrenomedullin gene in type 2 diabetic patients with renal failure.		103275	139	1	2003	 The microsatellite DNA polymorphism of AM gene may be associated with the genetic predisposition to develop nephropathy in Japanese patients with type 2 diabetes mellitus.	Case:139 type 2 diabetic patients on hemodialysis;Control:233/106/318 normal healthy subject (n=233), control patients with type 2 diabetes without nephropathy (n=106) and hemodialysis patients due to chronic:glomerulonephritis (n=318)										
115641	Y	diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.4	ADM	10283206	10285499		Ishimitsu, T.  et al. 2003	12753312				Adrenomedullin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001124.1	Japanese	Japan	CDC GDPinfo	133	Hs.441047			Kidney international. 2003 Jun;63(6):2230-5	Microsatellite DNA polymorphism of human adrenomedullin gene in type 2 diabetic patients with renal failure.		103275	8479	2	2003	 The microsatellite DNA polymorphism of AM gene may be associated with the genetic predisposition to develop nephropathy in Japanese patients with type 2 diabetes mellitus.	Case:139 type 2 diabetic patients on hemodialysis;Control:233/106/318 normal healthy subject (n=233), control patients with type 2 diabetes without nephropathy (n=106) and hemodialysis patients due to chronic:glomerulonephritis (n=318)										
115642	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Proteinuria	11	11p15.4	ADM	10283206	10285499		Kobayashi, Y.  et al. 2005	16097366				Adrenomedullin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001124.1			CDC GDPinfo	133	Hs.441047			Hypertension research. 2005 Mar;28(3):229-36	Haplotype-based case-control study revealing an association between the adrenomedullin gene and proteinuria in subjects with essential hypertension.		103275	15075	2	2005												
115635	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	12	12p13.31	ADIPOR2	1670507	1768106		Hara, K.  et al. 2005	15918014				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2	Japanese		CDC GDPinfo	79602	Hs.371642			Diabetologia. 2005 Jul;48(7):1307-14	Absence of an association between the polymorphisms in the genes encoding adiponectin receptors and type 2 diabetes		607946	20292	2	2005	Genetic variations in ADIPOR1 or ADIPOR2 are unlikely to lead to a common genetic predisposition to insulin resistance or type 2 diabetes in the Japanese population.	Cohort Japanese subjects 										
115636		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	12	12p13.31	ADIPOR2	1670507	1768106		Stefan, N.  et al. 2005	16205883				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2		Germany	CDC GDPinfo	79602	Hs.371642			Diabetologia. 2005 Nov;48(11):2282-91	Polymorphisms in the gene encoding adiponectin receptor 1 are associated with insulin resistance and high liver fat.		607946	20293	2	2005												
115637		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	12	12p13.31	ADIPOR2	1670507	1768106		Damcott, C. M.  et al. 2005	15983228				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2			CDC GDPinfo	79602	Hs.371642			Diabetes. 2005 Jul;54(7):2245-50	Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish.		607946	20294	2	2005												
115638		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10q22	ADK	75580970	76139066		Lucarelli P 1978	621091				Adenosine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006721.2			Y Wang	132	Hs.584739			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		102750	138	1	2004												
115632	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	1	1p36.13-q41	ADIPOR1	201176575	201194323		Hara, K.  et al. 2005	15918014				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	Japanese		CDC GDPinfo	51094	Hs.5298			Diabetologia. 2005 Jul;48(7):1307-14	Absence of an association between the polymorphisms in the genes encoding adiponectin receptors and type 2 diabetes		607945	8476	2	2005	Genetic variations in ADIPOR1 or ADIPOR2 are unlikely to lead to a common genetic predisposition to insulin resistance or type 2 diabetes in the Japanese population.	Cohort Japanese subjects 										
115633	Y	insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	1	1p36.13-q41	ADIPOR1	201176575	201194323		Stefan, N.  et al. 2005	16205883				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2		Germany	CDC GDPinfo	51094	Hs.5298			Diabetologia. 2005 Nov;48(11):2282-91	Polymorphisms in the gene encoding adiponectin receptor 1 are associated with insulin resistance and high liver fat.		607945	8477	2	2005												
115634	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	1	1p36.13-q41	ADIPOR1	201176575	201194323		Damcott, C. M.  et al. 2005	15983228				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2			CDC GDPinfo	51094	Hs.5298			Diabetes. 2005 Jul;54(7):2245-50	Genetic variation in adiponectin receptor 1 and adiponectin receptor 2 is associated with type 2 diabetes in the Old Order Amish.		607945	15074	2	2005												
115628	Y	alcohol dependence; drug dependence	CHEMDEPENDENCY	CHEM	Alcohol-Induced Disorders, Nervous System|Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	4	4q21-q24	ADH4	100263855	100284472		Luo, X.  et al. 2005	16237392				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3			CDC GDPinfo	127	Hs.1219			Neuropsychopharmacology. 2005	ADH4 Gene Variation is Associated with Alcohol Dependence and Drug Dependence in European Americans: Results from HWD Tests and Case-ControlAssociation Studies.		103740	15058	2	2005												
115629		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	4	4q23-q24	ADH7	100552440	100575548		Kim, H. S.  et al. 2003	14502680				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3			CDC GDPinfo	131	Hs.389			Movement disorders. 2003 Sep;18(9):1065-7	Frequencies of single nucleotide polymorphism in alcohol dehydrogenase7 gene in patients with multiple system atrophy and controls.		600086	8449	2	2003	Interpretation of this negative finding should be cautious in view of the relatively small number of cases.	Control:50:controls;Case:50 multiple system atrophy patients										
115630		multiple system atrophy	OTHER	OTH	Esophageal Neoplasms	4	4q23-q24	ADH7	100552440	100575548		Abbas, A.  et al. 2005	16180008				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3	French		CDC GDPinfo	131	Hs.389			Archives of toxicology. 2005	Identification of new single nucleotid polymorphisms (SNP) in alcohol dehydrogenase class IV ADH7 gene within a French population.		600086	8450	2	2005												
115624	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21-q24	ADH4	100263855	100284472		Buervenich, S.  et al. 2000	11009184				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3			CDC GDPinfo	127	Hs.1219			Movement disorders. 2000 Sep;15(5):813-8	Alcohol dehydrogenase alleles in Parkinson's disease		103740	8448	2	2000	an association between a certain ADH4 (formerly known as ADH7 in humans) allele and PD. This suggests a role for genetic variations of ADH4 as risk factors for the development of PD. Our data also show that the observed polymorphisms alone are not sufficient to cause symptoms. Further genetic and/or environmental factors have to be involved.	Control:130 control subjects;Case:78 patients with PD										
115625		alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q21-q24	ADH4	100263855	100284472		Ogurtsov, P. P.  et al. 2001	11900616				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3	Russian		CDC GDPinfo	127	Hs.1219			Addiction biology. 2001 Sep;6(4):377-383	Alcohol dehydrogenase ADH2-1 and ADH2-2 allelic isoforms in the Russian population correlate with type of alcoholic disease.		103740	15055	2	2001	There is a negative correlation between the ADH2-2 allele and alcohol misuse (both alcoholic dependence and alcoholic cirrhosis). This correlation is expressed more in alcoholic dependence. In spite of the possession of the ADH2-2 allele (or genotype ADH2-1/2), alcohol misuse increases the risk of cirrhosis. At the same time, positive status for active hepatitis B, C or combined infection B C (replication markers HBV-DNA or HCV-RNA) increases the risk for symptomatic alcoholic cirrhosis in alcohol abusing patients, independently of ADH2 genotype.	Cohort 123 inhabitants of Moscow (50 healthy donors, 36 patients with alcoholic cirrhosis (subdivided into infected and uninfected by HBV and/or HCV) and 37 patients with alcoholic dependence) of a similar age/sex and drinking pattern 										
115626	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q24	ADH4	100263855	100284472		Guindalini, C.  et al. 2005	15863808				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3		Brazil	CDC GDPinfo	127	Hs.1219			The American journal of psychiatry. 2005 May;162(5):1005-7	Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients.		103740	15056	2	2005	 These preliminary results suggest that ADH4 may play a role in the etiology of alcohol dependence. The association requires further study and replication but is functionally plausible and has a large effect size.	Control:92 healthy comparison subjects;Case:92 alcohol-dependent patients										
115621		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	4	4q21-q23	ADH1C	100476671	100492940		Kim, M. S.  et al. 2004	15220553				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		103730	20289	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
115622		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Dick, D. M.  et al. 2003	12766633				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		103730	20290	2	2003	Review article											
115623		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Kajander, O. A.  et al. 2001	11696658				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		103730	23956	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
115618		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Lee, H. C.  et al. 2001	11748356				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Korean	Korea	CDC GDPinfo	126	Hs.4			Journal of Korean medical science. 2001 Dec;16(6):745-50	Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population.		103730	20286	2	2001	The prevalences of heterozygous ALDH2*1/*2 plus homozygous ALDH2*2/*2 in patients with alcoholic cirrhosis (7.1%) and alcoholics without evidence of liver disease (3.8%) were significantly lower than that in nondrinkers (45.3%). The c2 allele frequencies of the CYP2E1 in alcoholic cirrhosis, alcoholics without evidence of liver disease, and nondrinkers were 0.21, 0.20, and 0.20, respectively. Allele frequencies of ADH2*2 in the three groups were 0.78, 0.74, and 0.77 and those of ADH3*1 were 0.94, 0.98, and 0.95. Therefore, we confirmed the observation that the ALDH2*2 gene protects against the development of alcoholism. However, the development of cirrhosis in Korean alcoholic patients was not associated with polymorphisms of ethanol-metabolizing enzymes.	Control:52 alcoholics without liver disease;Case:56 male alcoholic cirrhosis patients:Korea;Control:64 non drinkers										
115620		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Konishi, T.  et al. 2004	15318112				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Mexican	Los Angeles	CDC GDPinfo	126	Hs.4			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		103730	20288	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
115615		alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1C	100476671	100492940		Peng, G. S.  et al. 2002	12517056				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Taiwanese		CDC GDPinfo	126	Hs.4			Journal of the Formosan Medical Association. 2002 Nov;101(11):769-74	Alcohol sensitivity in Taiwanese men with different alcohol and aldehyde dehydrogenase genotypes		103730	20283	2	2002	 Individuals heterozygous for ALDH2*2 exhibit strong alcohol hypersensitivity caused by persistent accumulation of large amounts of acetaldehyde, but homozygosity for ADH2*2 is not dependent upon this pathway against alcoholism.	Cohort 24 Taiwanese men, matched by age, body mass index, nutritional state, and homozygosity at ADH3, were recruited from a population base of 304 men 										
115616		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Mulligan, C. J.  et al. 2003	12884000				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Indian		CDC GDPinfo	126	Hs.4			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		103730	20284	2	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe 										
115617		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Sepehr, A.  et al. 2004	15327835				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	126	Hs.4			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		103730	20285	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
115612		alcohol elimination	METABOLIC	MET		4	4q21-q23	ADH1C	100476671	100492940		Neumark, Y. D.  et al. 2004	14745297				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Jewish		CDC GDPinfo	126	Hs.4			Alcoholism, clinical and experimental research. 2004 Jan;28(1):4-Oct	Alcohol dehydrogenase polymorphisms influence alcohol-elimination rates in a male Jewish population.		103730	20280	2	2004	 The rate of alcohol elimination is significantly associated with the ADH2 genotype of Jewish males. Evidence for variation in alcohol metabolism across ADH genotypic groups provides support for the role of physiologic protective factors in alcohol drinking and suggests that reduced drinking among Jews may be genetically as well as environmentally determined. We believe that application of the novel Indiana clamp enhances AER measurement accuracy, allowing for detection of hitherto undetectable differences.	Cohort 109 young adult male Jews 										
115613		cholesterol, HDL; lipoprotein	METABOLIC	MET		4	4q21-q23	ADH1C	100476671	100492940		Whitfield, J. B.  et al. 2003	12658118				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Alcoholism, clinical and experimental research. 2003 Mar;27(3):509-14	ADH genotype does not modify the effects of alcohol on high-density lipoprotein.		103730	20281	2	2003	 The concept that alcohol dehydrogenase genotype and alcohol metabolic rate modify the effects of alcohol on plasma HDL concentration is not supported by our results.	Cohort 901 adult male and female subjects 	alcohol									
115614		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Chai, Y. G.  et al. 2005	15863807				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3		Korea	CDC GDPinfo	126	Hs.4			The American journal of psychiatry. 2005 May;162(5):1003-5	Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism.		103730	20282	2	2005	 The genetic characteristics of alcohol dehydrogenases in men with type I alcoholism were similar to those of healthy men, and the genetic characteristics of aldehyde dehydrogenase in men with type I alcoholism were similar to those of men with type II alcoholism. These findings suggest that the genetic characteristics of alcohol metabolism in type I alcoholism fall between nonalcoholism and type II alcoholism.	Control:38 nonalcoholic healthy men;Case:72 alcoholic men										
115609		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Sturgis, E. M.  et al. 2002	11981277				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		103730	15629	2	2002	Review article											
115610		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		van der Logt, E. M.  et al. 2005	16039674				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Mutation research. 2006 Jan;593(2-Jan):39-49	Role of epoxide hydrolase, NAD(P)H:quinoneoxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer.		103730	16524	2	2005												
115611		skin cancer; squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Pharyngeal Neoplasms|Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Sturgis, E. M.  et al. 2001	11303599				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):273-5	Alcohol dehydrogenase 3 genotype is not associated with risk of squamous cell carcinoma of the oral cavity and pharynx.		103730	20279	2	2001	Therefore, we found no evidence that supports a main effect of ADH3 genotype or a combined effect of alcohol and ADH3 genotype on risk of cancer of the oral cavity or pharynx.	Case:229 racially homogenous patients with oral and pharyngeal cancer;Control:575 matched controls, with frequency matching on age, sex and smoking status	alcohol									
115606		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Wang, D.  et al. 2005	15767341				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):626-32	Alcohol dehydrogenase 3 and risk of squamous cell carcinomas of the head and neck.		103730	15052	2	2005	Our data did not show that ADH3 genotypes had a significantly independent effect on the risk of HNSCC, nor did they modify the risks increased by alcohol or tobacco consumption and high-risk human papillomavirus infection. However, participants with ADH3(1-2) genotype were associated with poorer survival compared with those who had the other two ADH3 genotypes and a higher rate of recurrence than participants with ADH3(1-1) genotype.	Control:330:controls;Case:348 squamous cell carcinoma of the head and neck cases	alcohol human papillomavirus smoking (tobacco)									
115607		lipoprotein	METABOLIC	MET	Coronary Disease	4	4q21-q23	ADH1C	100476671	100492940		Hines, L. M.  et al. 2005	16051248				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Atherosclerosis. 2005 Oct;182(2):293-300	Alcohol consumption and high-density lipoprotein levels: the effect of ADH1C genotype, gender andmenopausal status.		103730	15053	2	2005			alcohol menopause									
115608		breast cancer	CANCER	CAN	Breast Neoplasms	4	4q21-q23	ADH1C	100476671	100492940			16344274				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Carcinogenesis. 2005	ADH3 genotype, alcohol intake, and breast cancer risk		103730	15054	2	2005			alcohol									
115603		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		van Dijk, B.  et al. 2001	11752857				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			European urology. 2001 Nov;40(5):509-14	Alcohol dehydrogenase type 3 (ADH3) and the risk of bladder cancer.		103730	15049	2	2001	 ADH3 genotype is a possible risk factor for bladder cancer. Although moderate drinkers with the gamma1gamma1 genotype seem to have the highest risk, we did not get a clear indication that ADH3 genotype modifies the relationship between alcohol intake and bladder cancer.	Case:120 bladder cancer patients;Control:133 convenience controls	alcohol									
115604		hypopharyngeal cancer; laryngeal cancer; oral cancer; oropharynx cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Hypopharyngeal Neoplasms|Oropharyngeal Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Nishimoto, I. N.  et al. 2004	14732773				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Archives of otolaryngology--head & neck surgery. 2004 Jan;130(1):78-82	Alcohol dehydrogenase 3 genotype as a risk factor for upper aerodigestive tract cancers		103730	15050	2	2004	 These results suggest that genotype AA may be a risk factor for UADT cancer, especially in individuals with low alcohol or tobacco consumption. However, further epidemiological case-control or cohort studies, preferably prospective, are needed to establish the exact role of ADH3 polymorphism and its association with the development of UADT cancers.	Case:141 consecutive patients with newly diagnosed squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, or larynx admitted for surgical:treatment.:Brazil;Control:94/40 inpatients without cancer from the A. C. Camargo or other Sao Paulo (Brazil) hospital (n=94) and healthy individuals (n=40)										
115605	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21-q23	ADH1C	100476671	100492940		Buervenich, S.  et al. 2005	15642852				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Archives of neurology. 2005 Jan;62(1):74-8	A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample.		103730	15051	2	2005	 Findings presented herein provide further evidence for mutations in genes encoding ADHs as genetic risk factors for PD.	Case:1,076 Parkinson's disease patients of European ancestry from a large international sample;Case:123 Swedish Parkinson's disease patients;Control:127 geogrpahically matched Swedish control subjects;Control:940 matched controls of European ancestry										
115600		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Covolo, L.  et al. 2005	16132793				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Italian		CDC GDPinfo	126	Hs.4			Cancer causes & control. 2005 Sep;16(7):831-8	Alcohol dehydrogenase 3, glutathione S-transferase M1 and T1 polymorphisms, alcohol consumption and hepatocellular carcinoma (Italy).		103730	10930	2	2005	 ADH3(1-1) and GSTT1 null genotypes did not modify the risk of HCC due to alcohol intake whereas an influence of GSTM1 null genotype for high ethanol consumption was suggested.		alcohol									
115601		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Liu, Y.  et al. 2005	15654505				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Japanese	Japan	CDC GDPinfo	126	Hs.4			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		103730	11355	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
115602		breast cancer	CANCER	CAN	Breast Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Hines LM  et al. 2000	11045794				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Cancer epidemiology, biomarkers & prevention. 2000 Oct;9(10):1099-105	A prospective study of the effect of alcohol consumption and ADH3 genotype on plasma steroid hormone levels and breast cancer risk.		103730	15048	2	2000	the ADH3 polymorphism modestly influences the response of some plasma hormones to alcohol consumption but is not independently associated with breast cancer risk and does not modify the association between alcohol and breast cancer risk.	Case:465 incident breast cancer cases diagnosed before June 1994 from women in the Nurses' Health Study who gave blood samples in 1989-1990;Control:621 matched controls	alcohol									
115597		cirrhosis, alcoholic; esophageal cancer; head and neck cancer; liver cancer; pancreatitis, alcoholic	CANCER	CAN	Gastrointestinal Neoplasms|Head and Neck Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Homann, N.  et al. 2005	16287084				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			International journal of cancer Journal international du cancer. 2005	Alcohol dehydrogenase 1C*1 allele is a genetic marker for alcohol-associated cancer in heavy drinkers.		103730	8447	2	2005												
115598	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Cell Transformation, Neoplastic	4	4q21-q23	ADH1C	100476671	100492940		Muto, M.  et al. 2002	12376487				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Carcinogenesis. 2002 Oct;23(10):1759-65	Association between aldehyde dehydrogenase gene polymorphisms and the phenomenon of field cancerization in patients with head and neck cancer		103730	8620	2	2002	These results reveal strong evidence for a gene-environmental interaction between the ALDH2-2 allele and alcohol consumption, for the risk of developing multiple LVL, resulting in the development of second ESCC in patients with HNSCC. Ultimately, increased local acetaldehyde exposure thus appears to be a critical determinant of the phenomenon of 'field cancerization'.	Cohort 78 patients with squamous-cell carcinoma in the head and neck 										
115599	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Raimondi, S.  et al. 2004	15370874				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDPinfo	126	Hs.4			Biomarkers. 2004 Mar-Apr;9(2):180-9	Association of metabolic gene polymorphisms with alcohol consumption in controls.		103730	9987	2	2004	Therefore, no significant association between CYP2E1 RsaI, CYP2E1 DraI, ADH1C, NQO1 polymorphisms and alcohol consumption was observed in healthy controls.	Cohort 2,224 subjects with information on both alcohol consumption and at least one of the studied polymorphisms 										
115594	N	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Diabetes Mellitus	4	4q21-q23	ADH1C	100476671	100492940		Zee RY 2004	14726542				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3		United States	KGB	126	Hs.4			Stroke; a journal of cerebral circulation. 2004 Feb;35(2):e39-42	Prospective evaluation of the alcohol dehydrogenase gamma1/gamma2 gene polymorphism and risk of stroke.		103730	136	1	2004	 In this large, prospective study, we found little evidence that the ADH1C gamma1/gamma2 polymorphism is associated with risk of future stroke. These data raise the possibility of important pathologic differences in ischemia between the coronary and cerebral circulations.	Case:320; Control:550										
115595	N	alcoholism and alcoholic liver disease	METABOLIC	MET	Liver Diseases, Alcoholic|Alcoholism	4	4q21-q23	ADH1C	100476671	100492940	p<0.05	Vidal F, J Hepatol 2004;41(5):744-50	15519646			coding sequence	Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	caucasic	Spain	Montserrat Broch	126	Hs.4			Journal of hepatology. 2004 Nov;41(5):744-50	genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I and ALDH2 in Spanish men: lack of association with alcoholism amd alcoholic liver disease		103730	137	1	2004	 ADH(2), ADH(3), and CYP(450)2E1 Pst-I and Dra-I genetic variations are not related to alcoholism or susceptibility to alcoholic liver disease in our male population. ALDH(2) locus is monomorphic.	Case:264; Control:255										
115596		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Tiemersma, E. W.  et al. 2003	12750236				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3		Netherlands	CDC GDPinfo	126	Hs.4			Cancer epidemiology, biomarkers & prevention. 2003 May;12(5):419-25	Alcohol consumption, alcohol dehydrogenase 3 polymorphism, and colorectal adenomas.		103730	8446	2	2003	In conclusion, our findings are consistent with results of other studies, suggesting that alcohol consumption elevates the risk of adenomatous colorectal polyps. ADH3 polymorphism may modify the association between alcohol consumption and colorectal adenomas.	Case:433 Caucasian cases with adenomatous polyps:1995-2000;Control:436 Caucasian polyp-free controls	alcohol									
115591	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21-q23	ADH1C	100476671	100492940	0.007	Buervenich S 2005	15642852	G78stop, rs283413	stop codon	coding sequence	Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	European ancestry		KGB	126	Hs.4			Archives of neurology. 2005 Jan;62(1):74-8	A Rare Truncating Mutation in ADH1C (G78Stop) Shows Significant Association With Parkinson Disease in a Large International Sample.		103730	133	1	2005	 Findings presented herein provide further evidence for mutations in genes encoding ADHs as genetic risk factors for PD.	Case:1,076 Parkinson's disease patients of European ancestry from a large international sample;Case:123 Swedish Parkinson's disease patients;Control:127 geogrpahically matched Swedish control subjects;Control:940 matched controls of European ancestry										
115592	Y	alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Mulligan CJ 2003	12884000				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	american Indian		KGB	126	Hs.4			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		103730	134	1	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe										
115593	Y	aerodigestive tract cancers	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Hypopharyngeal Neoplasms|Oropharyngeal Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Nishimoto IN 2004	14732773	Ile349Val			Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			KGB	126	Hs.4			Archives of otolaryngology--head & neck surgery. 2004 Jan;130(1):78-82	Alcohol dehydrogenase 3 genotype as a risk factor for upper aerodigestive tract cancers.		103730	135	1	2004	 These results suggest that genotype AA may be a risk factor for UADT cancer, especially in individuals with low alcohol or tobacco consumption. However, further epidemiological case-control or cohort studies, preferably prospective, are needed to establish the exact role of ADH3 polymorphism and its association with the development of UADT cancers.	Case:141 consecutive patients with newly diagnosed squamous cell carcinoma of the oral cavity, oropharynx, hypopharynx, or larynx admitted for surgical:treatment.:Brazil;Control:94/40 inpatients without cancer from the A. C. Camargo or other Sao Paulo (Br										
115588	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Konishi, T.  et al. 2004	15318112				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Mexican	Los Angeles	CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		103720	16842	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
115589		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Dick, D. M.  et al. 2003	12766633				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		103720	17596	2	2003	Review article											
115590		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Kajander, O. A.  et al. 2001	11696658				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		103720	20277	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
115585	Y	fetal alcohol syndrome	OTHER	OTH	Prenatal Exposure Delayed Effects|Facial Asymmetry	4	4q21-q23	ADH1B	100446551	100461581		Das, U. G.  et al. 2004	15597094				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2004 Oct;28(10):1598-606	Alcohol dehydrogenase 2*3 affects alterations in offspring facial morphology associated with maternal ethanol intake in pregnancy.		103720	15045	2	2004	 These are the first observations of a significant gene-environment interaction explaining variation in facial morphology associated with ethanol use in pregnancy. This positive effect of ADH1B*3 is consistent with its known positive effect on offspring birth weight and developmental outcome after in utero ethanol exposure.	Cohort 247 photographed infants 										
115586	N	breast cancer	CANCER	CAN	Breast Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Lilla, C.  et al. 2005	15886702				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105		Germany	CDC GDPinfo	125	Hs.4			British journal of cancer. 2005 Jun;92(11):2039-41	Alcohol dehydrogenase 1B (ADH1B) genotype, alcohol consumption and breast cancer risk by age 50 years in a German case-control study.		103720	15046	2	2005	Alcohol dehydrogenase 1B (ADH1B) genotype was not an independent risk factor for breast cancer, athough the possibility was raised that it modifies risk associated with high levels of alcohol consumption (OR 1.1, 95% confidence interval (CI) 0.8-1.6 for ADH1B*1/*1 genotype vs 0.2, 95% CI 0.1-1.0 for ADH1B*2 carriers).	Control:1,082:controls;Case:613 breast cancer cases	alcohol									
115582		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Mulligan, C. J.  et al. 2003	12884000				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Indian		CDC GDPinfo	125	Hs.4			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		103720	15042	2	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe 										
115583		osteonecrosis	METABOLIC	MET	Femur Head Necrosis	4	4q21-q23	ADH1B	100446551	100461581		Sakata, R.   2003	14768474				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			The Kurume medical journal. 2003 ;50(4-Mar):121-30	A case-control study of association between life-style, alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 genotype and idiopathic osteonecrosis of the femoral head.		103720	15043	2	2003	The reason for the insignificant multivariate OR of ALDH2(1/1) may be due to the strong confounding of alcohol consumption on the association between ALDH2 genotype and ION. For females, the small sample size made it impossible to produce any meaningful univariate analysis.	Case:43 cases of idiopathic osteonecrosis of femoral head without history of systemic corticosteroid use;Control:86 matched controls	alcohol green tea									
115584	Y	cerebral infarct; stroke, lacunar	CARDIOVASCULAR	CARD	Cerebral Infarction|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Suzuki, Y.  et al. 2004	15534263				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105		Japan	CDC GDPinfo	125	Hs.4			Neurology. 2004 Nov;63(9):1711-3	Alcohol dehydrogenase 2 variant is associated with cerebral infarction and lacunae.		103720	15044	2	2004	Multiple regression analyses confirmed that the risk of lacunae and cerebral infarction was increased by the ADH2*1 allele.	Cohort 1,102/1,093 community-dwelling Japanese men (n=1,102) and women (n=1,093) 										
115579		alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1B	100446551	100461581		Peng, G. S.  et al. 2002	12517056				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Taiwanese		CDC GDPinfo	125	Hs.4			Journal of the Formosan Medical Association. 2002 Nov;101(11):769-74	Alcohol sensitivity in Taiwanese men with different alcohol and aldehyde dehydrogenase genotypes		103720	15039	2	2002	 Individuals heterozygous for ALDH2*2 exhibit strong alcohol hypersensitivity caused by persistent accumulation of large amounts of acetaldehyde, but homozygosity for ADH2*2 is not dependent upon this pathway against alcoholism.	Cohort 24 Taiwanese men, matched by age, body mass index, nutritional state, and homozygosity at ADH3, were recruited from a population base of 304 men 										
115580		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Osaka, R.  et al. 2003	12519453				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Thai	Thailand	CDC GDPinfo	125	Hs.4			Psychiatry and clinical neurosciences. 2003 Feb;57(1):37-45	Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes and male alcohol use disorders in Khon Kaen, north-east Thailand		103720	15040	2	2003	The present findings suggest that one of the genetic factors that may be related to probable AUD among Thai males living in the north-east is the ADH2 gene.	Case:153 probably alcohol use disorder patients Khon Kaen, north-east Thailand;Control:153 matched controls										
115581		cholesterol, HDL; lipoprotein	METABOLIC	MET		4	4q21-q23	ADH1B	100446551	100461581		Whitfield, J. B.  et al. 2003	12658118				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2003 Mar;27(3):509-14	ADH genotype does not modify the effects of alcohol on high-density lipoprotein.		103720	15041	2	2003	 The concept that alcohol dehydrogenase genotype and alcohol metabolic rate modify the effects of alcohol on plasma HDL concentration is not supported by our results.	Cohort 901 adult male and female subjects 	alcohol									
115576		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Hasin, D.  et al. 2002	12153842				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Jewish	Israel|USSR	CDC GDPinfo	125	Hs.4			The American journal of psychiatry. 2002 Aug;159(8):1432-4	Alcohol and ADH2 in Israel: Ashkenazis, Sephardics,and recent Russian immigrants		103720	15036	2	2002	 The findings support a protective effect for ADH2*2 against heavy drinking in Jewish samples but also suggest the importance of environment. Future work should investigate interactions between genes and the environment in larger samples.	Cohort 68 of 75 randomly sampled Israelis 	alcohol									
115577	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Whitfield, J. B.   2002	12452180				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Chinese	China|Japan|Europe	CDC GDPinfo	125	Hs.4			American journal of human genetics. 2002 Nov;71(5):1247-50; author reply 1250-1	Alcohol dehydrogenase and alcohol dependence:variation in genotype-associated risk between populations.		103720	15037	2	2002	Two conclusions may be drawn from this summary of published results. First, the ADH1B*47His allelic effects on alcohol dependence risk are not additive. Heterozygotes are clearly more similar in risk to the ADH1B*47His/*47His homozygotes than to the ADH1B*47Arg/*47Arg homozygotes, and so the ADH1B*47His allele shows quantitative (but not complete) dominance. Second, there was a notable difference between European and Chinese or Japanese risk estimates.	Case alcohol-dependent subjects;Control:controls										
115578		fetal alcohol syndrome	OTHER	OTH	Fetal Alcohol Syndrome	4	4q21-q23	ADH1B	100446551	100461581		Stoler, J. M.  et al. 2002	12461493				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			The Journal of pediatrics. 2002 Dec;141(6):780-5	Alcohol dehydrogenase 2 genotypes, maternal alcohol use, and infant outcome.		103720	15038	2	2002	 Women with the ADH2-1/3 genotype may be at greater risk for having an affected infant, which may be the result of greater ingestion of alcohol.	Cohort 404/139 pregnant high-risk women (n=404) and infants as part of a larger study of alcohol use in pregnancy (n=139) 	alcohol, maternal smoking (tobacco), maternal									
115573		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Landi, S.  et al. 2005	16006997				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		103720	10028	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
115574		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	4	4q21-q23	ADH1B	100446551	100461581		Kim, M. S.  et al. 2004	15220553				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		103720	11890	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
115575		cirrhosis; pancreatitis; esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Chao YC  et al. 2000	11051375				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Chinese	China	CDC GDPinfo	125	Hs.4			The American journal of gastroenterology. 2000 Oct;95(10):2958-64	Chinese alcoholic patients with esophageal cancer are genetically different from alcoholics with acute pancreatitis and liver cirrhosis.		103720	15034	2	2000	 The allele frequency of ADH2*1 and ALDH2*1 are different among subpopulations of alcoholics, suggesting that alcoholic patients with different specific types of organ damage are genetically different. The Chinese alcoholic patients with the ADH2*1 and ALDH2*2 allele are more susceptible to esophageal Ca.	Control:241 nonalcoholic patients;Case:281 alcoholics (59 with esophageal CA, 87 with acute pancreatitis, 116 with liver cirrhosis, 19 with cirrhosis and pancreatitis										
115570		alcohol abuse; liver disease, alcoholic	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1B	100446551	100461581		Zhang, Z. M.  et al. 2002	16135443				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Chinese		CDC GDPinfo	125	Hs.4			Yi chuan. 2002 Sep;24(5):532-6	[Studies of genetic polymorphisms of ADH2 and ALDH2 among the Han population in Luoyang China]		103720	8443	2	2002												
115571		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Matsuo, K.  et al. 2005	16332725				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Japanese		CDC GDPinfo	125	Hs.4			Carcinogenesis. 2005	A gene-gene interaction between ALDH2 Glu487Lys and ADH2 His47Arg polymorphisms regarding the risk of colorectal cancer in Japan		103720	8444	2	2005			folate	ALDH2	Glu487Lys	ADH2	His47Arg			Y	Alcohol consumption and metabolism	colorectal cancer
115572		hepatitis, acute alcoholic	OTHER	OTH		4	4q21-q23	ADH1B	100446551	100461581			16358724				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Iranian		CDC GDPinfo	125	Hs.4			Genetika. 2005 Nov;41(11):1563-6	[Polymorphism of alcohol dehydrogenase gene ADH1B in eastern Slavic and Iranian-speaking populations]		103720	8445	2	2005												
115566		triglycerides; blood pressure, arterial; antioxidant activity	METABOLIC	MET		4	4q21-q23	ADH1B	100446551	100461581			15456134				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Russian		CDC GDPinfo	125	Hs.4			Molekuliarnaia biologiia. 2004 Jul-Aug;38(4):625-31	[Alcohol dehydrogenases ADH1B and ADH7 gene polymorphism in Russian population from the Siberian region]		103720	8439	2	2004	The statistically significant decrease of serum very low density lipoproteins (LPVLD) level (on 9.95%, P = 0.045) and close to statistically significant decrease systolic pressure (on 6.80%, P = 0.068) and serum triglycerides level (on 6.16 of %, P = 0.058) were revealed among the A2 allele ADH1B gene carriers in Tomsk population.	Cohort individuals from three Russian populations from the Siberian region Siberia, Russia 										
115567		alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1B	100446551	100461581		Cao, X. R.  et al. 2005	15842823				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Chinese		CDC GDPinfo	125	Hs.4			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 Mar;39(2):84-7	[Polymorphism of alcohol metabolizing-related enzyme genes and its correlation with drinking-behaviors in 201 cases of Chinese Han healthy population.]		103720	8440	2	2005	 The proportion of individuals carrying about susceptible genotypes of alcohol-related diseases in Chinese Han healthy population should be more than one half (68.16%), which calls on reinforcing the surveillance and preventing the alcohol-related diseases. Correlation between genotypes of ADH2 and ALDH2 and alcohol-related diseases should be more important.	Cohort 201 persons, including men 104, women 97 										
115568		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Chai, Y. G.  et al. 2005	15863807				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105		Korea	CDC GDPinfo	125	Hs.4			The American journal of psychiatry. 2005 May;162(5):1003-5	Alcohol and aldehyde dehydrogenase polymorphisms in men with type I and Type II alcoholism.		103720	8441	2	2005	 The genetic characteristics of alcohol dehydrogenases in men with type I alcoholism were similar to those of healthy men, and the genetic characteristics of aldehyde dehydrogenase in men with type I alcoholism were similar to those of men with type II alcoholism. These findings suggest that the genetic characteristics of alcohol metabolism in type I alcoholism fall between nonalcoholism and type II alcoholism.	Control:38 nonalcoholic healthy men;Case:72 alcoholic men										
115563		alcohol abuse	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Kee, J. Y.  et al. 2003	12824748				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Taehan Kan Hakhoe chi. 2003 Jun;9(2):89-97	[Effects of genetic polymorphisms of ethanol-metabolizing enzymes on alcohol drinking behaviors]		103720	8436	2	2003	 These results suggest that the absence of ALDH2 mutant genotype is strongly related to heavy drinking behavior. We can not prove, however, any evidence that the polymorphisms of other ethanol-metabolizing enzymes are associated with the determination of alcohol-drinking behavior.	Case:12/30 heavy drinkers (n=12) and alcoholic liver cirrhosis:patients (n=30);Control:42 healthy controls										
115564		alcohol elimination	METABOLIC	MET		4	4q21-q23	ADH1B	100446551	100461581		Neumark, Y. D.  et al. 2004	14745297				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Jewish		CDC GDPinfo	125	Hs.4			Alcoholism, clinical and experimental research. 2004 Jan;28(1):4-Oct	Alcohol dehydrogenase polymorphisms influence alcohol-elimination rates in a male Jewish population.		103720	8437	2	2004	 The rate of alcohol elimination is significantly associated with the ADH2 genotype of Jewish males. Evidence for variation in alcohol metabolism across ADH genotypic groups provides support for the role of physiologic protective factors in alcohol drinking and suggests that reduced drinking among Jews may be genetically as well as environmentally determined. We believe that application of the novel Indiana clamp enhances AER measurement accuracy, allowing for detection of hitherto undetectable differences.	Cohort 109 young adult male Jews 										
115565		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Sepehr, A.  et al. 2004	15327835				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	125	Hs.4			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		103720	8438	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
115560	Y	alcoholism	CHEMDEPENDENCY	CHEM	Congenital Abnormalities	4	4q21-q23	ADH1B	100446551	100461581		McCarver DG   2001	11259352				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Apr;29(4 Pt 2):562-5	Adh2 and cyp2e1 genetic polymorphisms: risk factorsfor alcohol-related birth defects		103720	8433	2	2001	genetic differences in ADH and CYP2E1 are likely determinants of offspring risk of intrauterine ethanol exposure.	Cohort African Americans and Caucasians 	alcohol									
115561	N	cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Lee, H. C.  et al. 2001	11748356				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Korean	Korea	CDC GDPinfo	125	Hs.4			Journal of Korean medical science. 2001 Dec;16(6):745-50	Association between polymorphisms of ethanol-metabolizing enzymes and susceptibility to alcoholic cirrhosis in a Korean male population.		103720	8434	2	2001	The prevalences of heterozygous ALDH2*1/*2 plus homozygous ALDH2*2/*2 in patients with alcoholic cirrhosis (7.1%) and alcoholics without evidence of liver disease (3.8%) were significantly lower than that in nondrinkers (45.3%). The c2 allele frequencies of the CYP2E1 in alcoholic cirrhosis, alcoholics without evidence of liver disease, and nondrinkers were 0.21, 0.20, and 0.20, respectively. Allele frequencies of ADH2*2 in the three groups were 0.78, 0.74, and 0.77 and those of ADH3*1 were 0.94, 0.98, and 0.95. Therefore, we confirmed the observation that the ALDH2*2 gene protects against the development of alcoholism. However, the development of cirrhosis in Korean alcoholic patients was not associated with polymorphisms of ethanol-metabolizing enzymes.	Control:52 alcoholics without liver disease;Case:56 male alcoholic cirrhosis patients:Korea;Control:64 non drinkers										
115562		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Cao, X.  et al. 2002	12545748				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Chinese	China	CDC GDPinfo	125	Hs.4			Wei sheng yan jiu. 2002 Jun;31(3):156-9	[Compare of distributions of gene polymorphisms about alcohol metabolizing-related enzymes in five Chinese nationalities]		103720	8435	2	2002		Cohort individuals in five Chinese nationalities 										
115557	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Heroin Dependence	4	4q21-q23	ADH1B	100446551	100461581		Neumark YD et al. 1998	9500299				alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105		Israel	KGB	125	Hs.4			Journal of studies on alcohol. 1998 Mar;59(2):133-	Association of the ADH2*2 allele with reduced ethanol consumption in Jewish men in Israel: a pilot study.		103720	132	1	1998	 This report describes for the first time an association between alcohol consumption patterns and a polymorphism at the ADH2 locus in a Jewish population. The relatively high frequency of the ADH2*2 allele may contribute to the seemingly lower levels of alcohol consumption and heightened sensitivity to alcohol observed among Jews.											
115558		pancreatitis	IMMUNE	IMM	Pancreatitis, Alcoholic	4	4q21-q23	ADH1B	100446551	100461581		Kimura, S.  et al. 2000	11117576				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Japanese	Japan	CDC GDPinfo	125	Hs.4			Digestive diseases and sciences. 2000 Oct;45(10):2013-7	Alcohol and aldehyde dehydrogenase polymorphisms in Japanese patients with alcohol-induced chronic pancreatitis		103720	8431	2	2000	genetic polymorphism of the ALDH2 gene influences the risk of developing alcoholic pancreatitis in Japanese.	Case:31 patients with alcoholic pancreatitis:Japanese;Control:47 normal subjects	alcohol									
115559		esophageal cancer; oropharyngolaryngeal cancers; stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Head and Neck Neoplasms|Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Yokoyama, A.  et al. 2001	11238183				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Japanese		CDC GDPinfo	125	Hs.4			Carcinogenesis. 2001 Mar;22(3):433-9	Alcohol and aldehyde dehydrogenase gene polymorphisms and oropharyngolaryngeal, esophageal and stomach cancers in Japanese alcoholics.		103720	8432	2	2001	Alcoholics' population attributable risks due to ADH2/ALDH2 polymorphisms were estimated to be 82.0% for oropharyngolaryngeal cancer and 63.9% for esophageal cancer.	Case:159 patients with solitary or multiple aerodigestive tract cancers;Control:526 cancer free patients										
115554		alcohol-elimination rates	METABOLIC	MET		4	4q21-q23	ADH1B	100446551	100461581		Neumark YD 2004	14745297	ADH2*2			Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Jewish males		KGB	125	Hs.4			Alcoholism, clinical and experimental research. 2004 Jan;28(1):4-Oct	Alcohol dehydrogenase polymorphisms influence alcohol-elimination rates in a male Jewish population.		103720	129	1	2004	 The rate of alcohol elimination is significantly associated with the ADH2 genotype of Jewish males. Evidence for variation in alcohol metabolism across ADH genotypic groups provides support for the role of physiologic protective factors in alcohol drinking and suggests that reduced drinking among Jews may be genetically as well as environmentally determined. We believe that application of the novel Indiana clamp enhances AER measurement accuracy, allowing for detection of hitherto undetectable differences.	Cohort 109 young adult male Jews										
115555		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Huang SY 2004	15084894				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			KGB	125	Hs.4			Alcoholism, clinical and experimental research. 2004 Mar;28(3):374-84	Possible interaction of alcohol dehydrogenase and aldehyde dehydrogenase genes with the dopamine D2 receptor gene in anxiety-depressive alcohol dependence.		103720	130	1	2004	 ANX/DEP ALC is a specific subtype of alcohol dependence. Because ANX/DEP ALC was associated with the DRD2 gene only under the stratification of ADH1B*1/*2 or ALDH2*1/*1, the DRD2 gene might interact with the ADH1B gene and the ALDH2 gene, respectively, in the development of ANX/DEP ALC in the Taiwan Han Chinese population.											
115556	N	alcoholism and alcoholic liver disease	METABOLIC	MET	Liver Diseases, Alcoholic|Alcoholism	4	4q21-q23	ADH1B	100446551	100461581	p>0,05	Vidal F et al.J Hepatol. 2004 Nov;41(5):744-50.	15519646			coding sequence	Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	caucasian	Spain	Montserrat Broch	125	Hs.4			Journal of hepatology. 2004 Nov;41(5):744-50	Genetic polymorphisms of ADH2, ADH3, CYP4502E1 Dra-I and Pst-I, and ALDH2 in Spanish men: lack of association with alcoholism and alcoholic liver disease.		103720	131	1	2004	 ADH(2), ADH(3), and CYP(450)2E1 Pst-I and Dra-I genetic variations are not related to alcoholism or susceptibility to alcoholic liver disease in our male population. ALDH(2) locus is monomorphic.	Case:264; Control:255										
115551	N	skin cancer; squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Pharyngeal Neoplasms|Alcoholism	4	4q21-q23	ADH1A	100416546	100431165		Sturgis, E. M.  et al. 2001	11303599				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667			CDC GDPinfo	124	Hs.368549			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):273-5	Alcohol dehydrogenase 3 genotype is not associated with risk of squamous cell carcinoma of the oral cavity and pharynx.		103700	15033	2	2001	Therefore, we found no evidence that supports a main effect of ADH3 genotype or a combined effect of alcohol and ADH3 genotype on risk of cancer of the oral cavity or pharynx.	Case:229 racially homogenous patients with oral and pharyngeal cancer;Control:575 matched controls, with frequency matching on age, sex and smoking status	alcohol									
115552		Parkinson's disease	NEUROLOGICAL	NEUR		4	4q21-q23	ADH1A	100416546	100431165		Nishio, K.  et al. 2004	15279067				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667			CDC GDPinfo	124	Hs.368549			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		103700	20276	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
115553		alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Mulligan CJ 2003	12884000				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	american Indian		KGB	125	Hs.4			Human genetics. 2003 Sep;113(4):325-36	Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.		103720	128	1	2003	These data strengthen the support for ADH as a candidate locus for alcohol dependence and suggest further productive study.	Cohort 490 participants belonging to a Southwest American Indian tribe										
115548	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24.2-q24.3	ADD3	111755715	111885313		Lanzani, C.  et al. 2005	15716695				Adducin 3 (gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016824.3			CDC GDPinfo	120	Hs.501012			Journal of hypertension. 2005 Mar;23(3):543-9	Role of the adducin family genes in human essential hypertension.		601568	20275	2	2005	 The interaction of ADD1 and ADD3 gene variants in humans is statistically associated with variation in blood pressure, suggesting the presence of epistatic effects among these loci.	Cohort 512 newly discovered and never-treated hypertensive patients 										
115549		arterial stiffness	CARDIOVASCULAR	CARD	Hypertension	10	10q24.2-q24.3	ADD3	111755715	111885313		Cwynar, M.  et al. 2005	15834281				Adducin 3 (gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016824.3			CDC GDPinfo	120	Hs.501012			Journal of hypertension. 2005 May;23(5):961-9	Epistatic interaction between alpha- and gamma-adducin influences peripheral and central pulse pressures in white Europeans.		601568	23955	2	2005	 In alpha-adducin Trp allele carriers, peripheral and central PP increased with the gamma-adducin G allele. This epistatic interaction is physiologically consistent with the heterodimeric structure of the protein and its influence on transmembranous sodium transport.											
115550	N	Parkinson's disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Tremor|Genetic Predisposition to Disease	4	4q21-q23	ADH1A	100416546	100431165		Tan, E. K.  et al. 2001	11356310				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667			CDC GDPinfo	124	Hs.368549			Neuroscience letters. 2001 Jun;305(1):70-2	Alcohol dehydrogenase polymorphism and Parkinson's disease.		103700	8429	2	2001	No strong evidence of an association was found between ADH A1 allele and PD susceptibility in our study patients. There was also no suggestion of linkage disequilibrium between NACP-Rep 1 and ADH A1 alleles.	Case:100 Parkinson's disease patients;Control:100 diseased controls;Control:194 healthy controls										
115545		blood pressure, arterial; sodium hemostatis	CARDIOVASCULAR	CARD	Hypertension	2	2p14-p13	ADD2	70742770	70848837		Tikhonoff, V.  et al. 2003	14553963				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2	European	Europe	CDC GDPinfo	119	Hs.188528			American journal of hypertension. 2003 Oct;16(10):840-6	beta-Adducin polymorphisms, blood pressure, and sodium excretion in three European populations		102681	8428	2	2003	In conclusion, the frequency of the beta-adducin T allele and salt intake differ across European populations. Thus, both variation in genetic background and salt intake may explain the observed heterogeneity in the phenotype-genotype relationships. Genetic determinants of complex quantitative traits such as BP can only be investigated within their epidemiologic context.	Cohort 388/456 men (n=388) and women (n=456) recruited from three European populations (Cracow, Poland, n = 300; Novosibirsk, Russian Federation, n = 274; Mirano, Italy; n = 270) Poland, Russian Federation and Italy 										
115546	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	2	2p14-p13	ADD2	70742770	70848837		Wang, J. G.  et al. 2002	12427140				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2			CDC GDPinfo	119	Hs.188528			Kidney international. 2002 Dec;62(6):2152-9	Association between hypertension and variation in the alpha- and beta-adducin genes in a white population.		102681	20273	2	2002	 The 1797T allele of the beta-adducin gene is associated with increased risk of hypertension in post-menopausal women and in users of oral contraceptives, particularly in the presence of the mutated alpha-adducin Trp allele. We hypothesize that inhibition of the renin-aldosterone system in men and absence of such a compensatory mechanism in women may explain, at least to some extent, the sexual dimorphism of the blood pressure phenotype in relation to the C1797T beta-adducin polymorphism.	Cohort 1848 subjects randomly selected from a white population 	oral contraceptive									
115547		arterial stiffness	CARDIOVASCULAR	CARD	Hypertension	2	2p14-p13	ADD2	70742770	70848837		Cwynar, M.  et al. 2005	15834281				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2			CDC GDPinfo	119	Hs.188528			Journal of hypertension. 2005 May;23(5):961-9	Epistatic interaction between alpha- and gamma-adducin influences peripheral and central pulse pressures in white Europeans.		102681	20274	2	2005	 In alpha-adducin Trp allele carriers, peripheral and central PP increased with the gamma-adducin G allele. This epistatic interaction is physiologically consistent with the heterodimeric structure of the protein and its influence on transmembranous sodium transport.											
115542	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	2	2p14-p13	ADD2	70742770	70848837		Wang JG et al. 2002	12427140				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2	white		KGB	119	Hs.188528			Kidney international. 2002 Dec;62(6):2152-9	Association between hypertension and variation in the alpha- and beta-adducin genes in a white population.		102681	127	1	2002	 The 1797T allele of the beta-adducin gene is associated with increased risk of hypertension in post-menopausal women and in users of oral contraceptives, particularly in the presence of the mutated alpha-adducin Trp allele. We hypothesize that inhibition of the renin-aldosterone system in men and absence of such a compensatory mechanism in women may explain, at least to some extent, the sexual dimorphism of the blood pressure phenotype in relation to the C1797T beta-adducin polymorphism.	Cohort 1848 subjects randomly selected from a white population	oral contraceptive									
115543		blood and blood forming organ disorders	HEMATOLOGICAL	HEM	Anemia	2	2p14-p13	ADD2	70742770	70848837		Wang, J. G.  et al. 2003	12653680	C1797T			Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2			CDC GDPinfo	119	Hs.188528			Clin Sci (Lond).. 2003 Apr;104(4):369-76	Haematological phenotypes in relation to the C1797T beta-adducin polymorphism in a Caucasian population.		102681	8426	2	2003	This genotype may slightly potentiate the structural and functional haematological disturbances associated with alcohol intake.	Cohort 802 unrelated individuals and 294 families (459 parents and 609 offspring) 	alcohol									
115544		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	2	2p14-p13	ADD2	70742770	70848837		Tikhonoff, V.  et al. 2003	14517477	C1797T			Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2		Europe|Poland|Russia|Italy	CDC GDPinfo	119	Hs.188528			Blood pressure monitoring. 2003 Aug;8(4):151-4	Blood pressure phenotypes in relation to the beta-adducin C1797T polymorphism in the European Project on Genes in Hypertension (EPOGH).		102681	8427	2	2003	 Phenotype-genotype associations involving blood pressure are influenced by the technique and conditions of the BP measurement as well as by the overall ecogenetic context.	Cohort 388/456 men (n=388) and women (n=456) aged 18-60 years recruited from three European populations (Cracow, Poland, n=300; Novosibirsk, Russian Federation, n=274; Mirano, Italy; n=270) 										
115539		intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis	4	4p16.3	ADD1	2815374	2901587		Balkestein, E. J.  et al. 2002	12172317				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian	Belgium	CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2002 Aug;20(8):1551-61	Carotid and femoral intima-media thickness in relation to three candidate genes in a Caucasian population.		102680	20272	2	2002	This study shows that a relationship exists between the intima-media thickness of the large muscular femoral artery and the ACE gene. This relationship is only apparent in the presence of either the alpha-adducin 460Trp or the aldosterone synthase -344T allele. These findings may have clinical implications for the assessment of genetic cardiovascular risk.	Cohort 380 subjects enrolled in a population study 										
115540		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4p16.3	ADD1	2815374	2901587		Humma, L. M.  et al. 2002	12116890				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		102680	23954	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
115541	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	2	2p14-p13	ADD2	70742770	70848837		Wang JG et al. 2002	12427140				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2	white		KGB	119	Hs.188528			Kidney international. 2002 Dec;62(6):2152-9	Association between hypertension and variation in the alpha- and beta-adducin genes in a white population.		102681	126	1	2002	 The 1797T allele of the beta-adducin gene is associated with increased risk of hypertension in post-menopausal women and in users of oral contraceptives, particularly in the presence of the mutated alpha-adducin Trp allele. We hypothesize that inhibition of the renin-aldosterone system in men and absence of such a compensatory mechanism in women may explain, at least to some extent, the sexual dimorphism of the blood pressure phenotype in relation to the C1797T beta-adducin polymorphism.	Cohort 1848 subjects randomly selected from a white population	oral contraceptive									
115536	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Staessen, J. A.  et al. 2001	11518842				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian		CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2001 Aug;19(8):1349-58	Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.		102680	20269	2	2001	 Epistatic interactions between the ACE, ADD and AS genes contribute to the prevalence and incidence of hypertension in Caucasians. The clinical relevance of the risk-conferring haplotypes identified in our prospective study was underscored by their positive predictive values, which under the assumption of a 20% life-time risk of hypertension, ranged from 29.8-40.1%.	Cohort 1461 subjects randomly selected from a Caucasian population 										
115537		carotid and femoral artery stiffness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4p16.3	ADD1	2815374	2901587		Balkestein, E. J.  et al. 2001	11711521				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2001 Nov;38(5):1190-7	Carotid and femoral artery stiffness in relation to three candidate genes in a white population.		102680	20270	2	2001	These data show that functional large artery properties are influenced by the ACE I/D polymorphism. Cross-sectional compliance and distensibility coefficients are influenced by the ACE I/D genotype, but this influence depends on the vascular territory and genetic background.	Cohort 756 subjects enrolled in a population study 										
115538	Y	creatinine; protein excretion, urinary	METABOLIC	MET	Proteinuria|Hypertension	4	4p16.3	ADD1	2815374	2901587		Wang, J. G.  et al. 2001	11728946				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			American journal of kidney diseases. 2001 Dec;38(6):1158-68	Renal function in relation to three candidate genes		102680	20271	2	2001	Thus, in the present cross-sectional analysis, renal function was slightly but consistently impaired when both the ACE D and alpha-adducin Trp alleles were present. These findings, together with experimental studies and our previous reports on femoral intima media thickness and the incidence of hypertension, constitute a growing body of evidence delineating a clinical entity genetically determined by the risk-carrying ACE D and alpha-adducin Trp alleles.	Cohort 1454 participants drawn at random from the population (64.3% of those invited), aged 43.4 years and included 744 women (51.2%) 										
115533		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	4	4p16.3	ADD1	2815374	2901587		Tiago, A. D.  et al. 2001	11447495				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	South African	South Africa	CDC GDPinfo	118	Hs.183706			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		102680	20266	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
115534		alcoholism; renal disease, end stage	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p16.3	ADD1	2815374	2901587		Connor, J. P.  et al. 2002	11918988				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		Australia	CDC GDPinfo	118	Hs.183706			European psychiatry. 2002 Mar;17(1):17-23	D(2) dopamine receptor (DRD2) polymorphism is associated with severity of alcohol dependence.		102680	20267	2	2002	In sum, alcohol-dependent patients with the DRD2 A(1) allele compared to patients without this allele are characterized by greater severity of their disorder across a range of problem drinking indices. The implications of these findings are discussed.	Cohort sample of Caucasian adults recruited from an alcohol detoxification unit ;Control:260 control subjects not otherwise specified in:abstract;Case:260 end stage renal disease patients										
115535	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Clark, C. J.  et al. 2000	11116113				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2000 Dec;36(6):990-4	alpha-adducin and angiotensin I-converting enzyme polymorphisms in essential hypertension		102680	20268	2	2000	no evidence was found to suggest an association between either the alpha-adducin G460W or the ACE I/D polymorphism and hypertension in a careful case-control study. Furthermore, the alpha-adducin G460W, ACE I/D, and aldosterone synthase SF-1 and IC polymorphisms do not appear to interact in our hypertensive population.	Control individually age- and gender-matched normotensive control subjects;Case:128 patients with essential hypertension										
115530		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	4	4p16.3	ADD1	2815374	2901587		Sunder-Plassmann, G.  et al. 2002	12394950				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		102680	20263	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
115531		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Kosachunhanun, N.  et al. 2003	14530292				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		102680	20264	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
115532		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587			16314886				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			The pharmacogenomics journal. 2006 Jan-Feb;6(1):22-6	Interactions between five candidate genes and antihypertensive drug therapy on blood pressure		102680	20265	2	2005			antihypertensive									
115527		renal disease, end stage	UNKNOWN	UNK	Kidney Failure, Chronic|Disease Progression	4	4p16.3	ADD1	2815374	2901587		Nicod, J.  et al. 2002	11918733				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Kidney international. 2002 Apr;61(4):1270-5	Role of the alpha-adducin genotype on renal disease progression.		102680	20260	2	2002	 The ADD genotype is predictive of the course of renal function loss in an unselected renal population and influences the effect of the ACE genotype to modulate the rate of progression to ESRD. Thus, the ADD genotype may play a role for the understanding of interindividual differences in the course of renal diseases.											
115528		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	4	4p16.3	ADD1	2815374	2901587		Matayoshi, T.  et al. 2004	15824464				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		102680	20261	2	2004			thiazide diuretics									
115529		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	4	4p16.3	ADD1	2815374	2901587		Zee, R. Y.  et al. 2002	12082592				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		102680	20262	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
115524	Y	nephropathy	RENAL	REN	Kidney Diseases|Glomerulonephritis, IGA|Disease Progression	4	4p16.3	ADD1	2815374	2901587		Narita, I.  et al. 2003	12885793				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Japanese	Japan	CDC GDPinfo	118	Hs.183706			Hypertension. 2003 Sep;42(3):304-9	Interaction between ACE and ADD1 gene polymorphisms in the progression of IgA nephropathy in Japanese patients.		102680	20257	2	2003	These findings suggest an interaction between ACE and ADD1 polymorphisms not only on blood pressure regulation but also on the progression of renal dysfunction in patients with IgAN.	Cohort 276 Japanese patients with histologically proven IgA nephropathy 										
115525		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Persu, A.  et al. 2003	13679477				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		France	CDC GDPinfo	118	Hs.183706			Nephrology, dialysis, transplantation. 2003 Oct;18(10):2032-8	Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.		102680	20258	2	2003	 In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age at ESRD, either alone or in combination with the G460W polymorphism of ADD. However, a deleterious effect of the DD genotype of ACE on renal disease progression was observed in ADPKD males.	Cohort 191 autosomal dominant polycystic kidney disease patients 										
115526		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Yu, Y.  et al. 2005	15773232				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Clinical and experimental hypertension (New York, NY :  1993). 2005 Jan;27(1):83-94	Associations of baseline blood pressure levels and efficacy of Benazepril treatment with interaction of alpha-adducin and ACE gene polymorphisms in hypertensives.		102680	20259	2	2005	Our results suggested that the interaction effect of alpha-adducin Gly460Trp and ACE I/D polymorphisms might play a significant role in regulating baseline BP but not BP response to Benazepril.	Cohort 954 Chinses hypertensive patients Anhui province, China 	benazepril									
115521		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Tobin, M. D.  et al. 2004	15039125				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			European heart journal. 2004 Mar;25(6):459-67	Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study		102680	19012	2	2004	 We report associations of two polymorphisms and haplotypes at two loci with risk of MI that warrants testing in future studies. Furthermore, we demonstrate the application of a multilocus assay in the setting of a large association study and the additional benefit gained from the study of haplotypes to identify variants influencing risk of coronary heart disease.	Control:505:controls;Case:547 acute myocardial infarct cases										
115522		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Sciarrone, M. T.  et al. 2003	12623934				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2003 Mar;41(3):398-403	ACE and alpha-adducin polymorphism as markers of individual response to diuretic therapy.		102680	20255	2	2003	alpha-Adducin and ACE I/D polymorphism may be useful to predict the interindividual degree of response to hydrochlorothiazide; the analysis of the combination of the 2 genotypes increases the accuracy of the prediction of response to the drug.	Cohort 87 never-treated individuals with mild essential hypertension 	hydrochlorothiazide									
115523	N	kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	4	4p16.3	ADD1	2815374	2901587		Merta, M.  et al. 2003	12697976				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Kidney & blood pressure research. 2003 ;26(1):42-9	Influence of the alpha-adducin and ACE gene polymorphism on the progression of autosomal-dominant polycystic kidney disease.		102680	20256	2	2003	 The ACE and alpha-adducin polymorphisms do not play a significant role in the progression of ADPKD to ESRF.	Control:200 genetically unrelated healthy Czech subjects;Case:320 autosomal dominant polycystic kidney disease patients, 220 pts (113 males, 107 females) with ESRF before 63 years of age										
115518	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Lanzani, C.  et al. 2005	15716695				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2005 Mar;23(3):543-9	Role of the adducin family genes in human essential hypertension.		102680	15031	2	2005	 The interaction of ADD1 and ADD3 gene variants in humans is statistically associated with variation in blood pressure, suggesting the presence of epistatic effects among these loci.	Cohort 512 newly discovered and never-treated hypertensive patients 										
115519	Y	arterial stiffness	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Cwynar, M.  et al. 2005	15834281				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2005 May;23(5):961-9	Epistatic interaction between alpha- and gamma-adducin influences peripheral and central pulse pressures in white Europeans.		102680	15032	2	2005	 In alpha-adducin Trp allele carriers, peripheral and central PP increased with the gamma-adducin G allele. This epistatic interaction is physiologically consistent with the heterodimeric structure of the protein and its influence on transmembranous sodium transport.											
115520	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Shioji, K.  et al. 2004	15055253				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Japanese	Japan	CDC GDPinfo	118	Hs.183706			Hypertension research. 2004 Jan;27(1):31-7	Association between hypertension and the alpha-adducin, beta1-adrenoreceptor, and G-protein beta3 subunit genes in the Japanese population; the Suita study.		102680	15100	2	2004	The present results do not agree with those in previous reports. Almost all common variants may have only a modest effect on common diseases, and a single study even employing 1,880 subjects may lack the statistical power to detect a real association. Accordingly, it will be necessary to verify the association between these three genes and hypertension using a larger number of subjects from the Suita cohort or another population.	Cohort 867/1,013 a large cohort representing the general population in Japan (867 males, 1,013 females) 										
115515	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Hou, R.  et al. 2000	11110979				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese	China	CDC GDPinfo	118	Hs.183706			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):413-6	[Is Gly460Trp variant of alpha-adducin associated with essential hypertension in the Hans of Chinese population]		102680	15020	2	2000	 A G-->T substitution at nucleotide 614 in exon 10 of alpha-adducin gene is found, but there is lack of the association between the variant of alpha-adducin gene and essential hypertension in the Hans of Chinese population.	Control:129 normotensive subjects;Case:183 Han Chinese patients with essential hypertension:China										
115516		myocardial infarction; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Hypertension	4	4p16.3	ADD1	2815374	2901587		Psaty, B. M.  et al. 2002	11926892				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			JAMA. 2002 Apr;287(13):1680-9	Diuretic therapy, the alpha-adducin gene variant, and the risk of myocardial infarction or stroke in persons with treated hypertension.		102680	15026	2	2002	 In carriers of the adducin variant, diuretic therapy was associated with a lower risk of combined MI or stroke than other antihypertensive therapies. If these findings are confirmed in other studies, this large subgroup of the hypertensive population may be especially likely to benefit from low-dose diuretic therapy.	Case:117 stroke cases January 1995 and December 1998;Case:206 nonfatal myocardial infarction cases January 1995 and December 1998;Control:715 stratified random sample of pharmacologically treated hypertensive patients who were matched to MI cases by age, sex, and calendar year	diuretic therapy									
115517	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Wang, J. G.  et al. 2002	12427140				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Kidney international. 2002 Dec;62(6):2152-9	Association between hypertension and variation in the alpha- and beta-adducin genes in a white population.		102680	15030	2	2002	 The 1797T allele of the beta-adducin gene is associated with increased risk of hypertension in post-menopausal women and in users of oral contraceptives, particularly in the presence of the mutated alpha-adducin Trp allele. We hypothesize that inhibition of the renin-aldosterone system in men and absence of such a compensatory mechanism in women may explain, at least to some extent, the sexual dimorphism of the blood pressure phenotype in relation to the C1797T beta-adducin polymorphism.	Cohort 1848 subjects randomly selected from a white population 	oral contraceptive									
115512		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587			16392768				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Japanese	Japan	CDC GDPinfo	118	Hs.183706			Hypertension research. 2005 Aug;28(8):645-50	Combined analysis of polymorphisms in angiotensinogen and adducin genes and their effects on hypertension in a Japanese sample: The ShigarakiStudy		102680	8425	2	2005			salt	AGT		ADD1				Y	salt intake (independant of GI)	hypertension
115513		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Turner, S. T.  et al. 2003	14553962				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			American journal of hypertension. 2003 Oct;16(10):834-9	Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide		102680	8515	2	2003	 Although we reject the null hypothesis of no genetic effects on BP response to hydrochlorothiazide, the influence of variation at single sites is likely to be small. More extensive characterization of genetic variation is required for pharmacogenetic approaches to become clinically useful in tailoring antihypertensive drug therapy for individual patients.	Cohort 291/294 unrelated non-Hispanic African American adults (n=291, 150 women and 141 men) and unrelated non-Hispanic white adults (n=294, 126 women and 168 men) who were between 30 and 59.9 years of age and who had essential hypertension. 	hydrochlorothiazide									
115514	Y	blood pressure	CARDIOVASCULAR	CARD	Hyperaldosteronism	4	4p16.3	ADD1	2815374	2901587		Mulatero, P.  et al. 2002	12107246				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3337-43	Blood pressure in patients with primary aldosteronism is influenced by bradykinin B(2) receptor and alpha-adducin gene polymorphisms.		102680	8877	2	2002	These data suggest that genetic variants of alpha-adducin and the bradykinin B(2)-R influence the blood pressure levels in patients with primary aldosteronism.	Cohort 167 primary aldosteronism patients (56 with aldosterone-producing adenoma and 111 with idiopathic hyperaldosteronism) 										
115508		blood pressure, arterial	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Li, Y.  et al. 2005	16043664	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2005 Sep;46(3):527-32	Cardiovascular risk in relation to alpha-adducin Gly460Trp polymorphism and systolic pressure: aprospective population study.		102680	8421	2	2005												
115509		blood pressure, arterial	CARDIOVASCULAR	CARD		4	4p16.3	ADD1	2815374	2901587		Guo, H. F.  et al. 2005	16080807	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese		CDC GDPinfo	118	Hs.183706			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):608-12	[Association of peripheral and central blood pressure with the alpha-adducin Gly460Trp polymorphism in a Chinese population]		102680	8422	2	2005	 In the JingNing population, the adducin 460Trp allele was associated with lower levels of central systolic pressure and pulse pressure.											
115511	Y	hypertension	CARDIOVASCULAR	CARD		4	4p16.3	ADD1	2815374	2901587		Wu, S. L.  et al. 2005	16266470				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Oct;33(10):880-4	[Association of polymorphism in alpha-adducin gene with antihypertensive effect of Hydrochlorothiazide]		102680	8424	2	2005	 The present study suggests that the alpha-adducin G614T polymorphism is associated with the antihypertensive effect of HCTZ, which is more effective in patients with TT genotype.		hydrochlorothiazide									
115505	Y	cardiovascular disease; bilirubin	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Yu, Y. X.  et al. 2004	15493144				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese		CDC GDPinfo	118	Hs.183706			Yi chuan xue bao. 2004 Sep;31(9):941-9	Significant associations of the alpha-adducin gene Gly460Trp polymorphism with serum bilirubin concentrations in Chinese essential hypertension patients.		102680	8417	2	2004	We concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated with lower serum bilirubin concentrations in this group of Chinese women with essential hypertension. Women with the Trp/Trp genotype of alpha-adducin Gly460Trp might have increased risk for cardiovascular diseases due to lower concentrations of serum bilirubin.	Cohort patients with essential hypertension Anhui, China Sep, 2000 - Jan, 2001 										
115506		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Mead, P. A.  et al. 2005	15554870	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Clin Sci (Lond).. 2005 Mar;108(3):231-6	Sodium-lithium countertransport and the Gly460-->Trp alpha-adducin polymorphism in essential hypertension.		102680	8418	2	2005	In conclusion, the Gly460-->Trp polymorphism of alpha-adducin modifies the kinetics of Na/LiCT. The effect of this genotype is different in patients with EH compared with NC and it does not explain the abnormal kinetics in patients with EH. The Trp allele was not associated with disease in the population studied. Several cytoskeletal proteins may interact with adducin in the overall phenotype of EH.	Control:242 normal controls;Case:73 patients with essential hypertension										
115507	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Shin, M. H.  et al. 2004	15608390	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		Korea	CDC GDPinfo	118	Hs.183706			Journal of Korean medical science. 2004 Dec;19(6):812-4	Alpha-Adducin Gly460Trp Polymorphism and Essential Hypertension in Korea		102680	8419	2	2004	These findings suggest that the Gly460Trp polymorphism of ADD-1 is not associated with hypertension.	Cohort 903 subjects from a population-based study Jangseong County, Korea 										
115502	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		4	4p16.3	ADD1	2815374	2901587		Yamagishi, K.  et al. 2004	15110895	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			American journal of hypertension. 2004 May;17(5 Pt 1):385-90	Alpha-adducin G460W polymorphism, urinary sodium excretion, and blood pressure in community-based samples.		102680	8414	2	2004	 The alpha-adducin WW genotype was associated with higher systolic BP among men with a higher sodium intake.	Cohort 2,823 men and women aged 30 to 74 years in a Japanese rural community Japan 	salt									
115503	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Hypertension|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Conway, B. R.  et al. 2004	15187197				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Irish	Northern Ireland	CDC GDPinfo	118	Hs.183706			Nephrology, dialysis, transplantation. 2004 Aug;19(8):2019-24	Role of alpha-adducin DNA polymorphisms in the genetic predisposition to diabetic nephropathy.		102680	8415	2	2004	 Variation in the alpha-adducin gene does not play a major role in the development of nephropathy in persons with type 1 diabetes in the Irish population. Furthermore, the Gly460Trp variant was not associated with hypertension in this population.	Control:118 cases with type 1 diabetes and no evidence of:nephropathy Irish Republic;Case:155 patients with type 1 diabetes and nephropathy Northern Ireland;Control:216 persons with type 1 diabetes but no evidence of:nephropathy Northern Ireland;Case:95 cases with type 1 diabetes and nephropathy Irish Republic										
115504		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Beeks, E.  et al. 2004	15326084				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2004 Oct;44(4):419-23	Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hypertension.		102680	8416	2	2004	The present study shows that the Trp460Trp genotype is significantly associated with reduced renal plasma flow and glomerular filtration rate as compared with the wild-type variant.	Cohort 117 essential hypertensive patients who were put on a low and high sodium diet 	salt									
115499	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Ju, Z.  et al. 2003	14508192				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese	China	CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2003 Oct;21(10):1861-8	Alpha-adducin gene polymorphism is associated with essential hypertension in Chinese: a case-controland family-based study.		102680	8411	2	2003	 The present findings show a positive association between the alpha-adducin G460W polymorphism and essential hypertension in a northern Chinese population. This evidence indicates that the alpha-adducin gene may be a susceptible gene to essential hypertension.	Cohort 748 individuals from a population-based sample China 										
115500		blood pressure, arterial; nitric oxide production; salt sensitivity	CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4p16.3	ADD1	2815374	2901587		Castejon, A. M.  et al. 2003	14643575				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		Venezuela	CDC GDPinfo	118	Hs.183706			American journal of hypertension. 2003 Dec;16(12):1018-24	Alpha-adducin polymorphism, salt sensitivity, nitric oxide excretion, and cardiovascular risk factors in normotensive Hispanics.		102680	8412	2	2003	 In normotensive Venezuelans, the alpha-adducin G/T polymorphism was not associated with BP, salt sensitivity, or with sodium excretion during sodium loading or restriction. G/T was associated with increased LDL-cholesterol and postload glucose levels. In SS, G/T was associated with greater salt-dependent modulation of NO excretion. However, this larger increase in NO excretion was not associated with a larger decrease in BP.	Cohort 126 healthy adult normotensive Venezuelan individuals 										
115501	Y	brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Hypertension	4	4p16.3	ADD1	2815374	2901587		Dou, X. F.  et al. 2004	15059531	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese		CDC GDPinfo	118	Hs.183706			Zhonghua yi xue za zhi. 2004 Feb;84(3):186-8	[Alpha-adducin gene G/W460 polymorphism is associated with intracerebral hemorrhage in Chinese]		102680	8413	2	2004	 Alpha-adducin gene G/W 460 polymorphism is significantly associated with the risk of ICH. This association does not appear to be mediated by established ICH risk factors, specifically hypertension status.	Control:454 age, sex, and geographically matched subjects;Case:456 patients with intracerebral hemorrhage diagnosed by CT or MRI from 7 clinical centers:China	blood pressure									
115496	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Arterial Occlusive Diseases|Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Morrison, A. C.  et al. 2002	12052841				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2002 Jun;39(6):1053-7	ADD1 460W allele associated with cardiovascular disease in hypertensive individuals.		102680	8404	2	2002	An interaction with hypertension in the association between the ADD1 G460W polymorphism and cardiovascular disease merits further testing in additional populations.	Case:144 peripheral arterial disease cases;Case:408 incident coronary heart disease cases;Control:684 stratified random individuals of the ARIC cohort;Control:703 stratified random individuals of the ARIC cohort										
115497		left ventricular mass; renin activity	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	4	4p16.3	ADD1	2815374	2901587		Winnicki, M.  et al. 2002	12195118	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2002 Sep;20(9):1771-7	alpha-Adducin Gly460Trp polymorphism, left ventricular mass and plasma renin activity		102680	8405	2	2002	 The homozygotic state of the allele of alpha-adducin polymorphism is independently associated with increased LV mass and low PRA. These data suggest that genetic considerations may contribute importantly to risk stratification, and perhaps therapeutic interventions targeted at LVH and the renin-angiotensin system in hypertensive patients.	Cohort 162 men with mild, never-treated hypertension who were recruited for the Hypertension and Ambulatory Recording Venetia Study 										
115498	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Sugimoto, K.  et al. 2002	12195119	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Journal of hypertension. 2002 Sep;20(9):1779-84	alpha-adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects in the Ohasama study		102680	8406	2	2002	 These findings suggest the possibility that the Gly460Trp polymorphism of ADD-1 is associated with low renin hypertension.	Cohort 1490 subjects recruited from participants in the Ohasama Study northern Japan 										
115493	Y	blood pressure; hyperlipidemia, familial combined	CARDIOVASCULAR	CARD	Hyperlipidemia, Familial Combined	4	4p16.3	ADD1	2815374	2901587		Beeks, E.  et al. 2001	11775124	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			American journal of hypertension. 2001 Dec;14(12):1185-90	Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia.		102680	8400	2	2001	 This study shows that the 460Trp allele is associated with FCHL. Furthermore, SBP is increased in patients carrying the 460Trp allele.	Control:121 unrelated controls (spouses);Case:79 unrelated patients with familial combined:hyperlipidemia										
115494		blood pressure	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Grant, F. D.  et al. 2002	11847182				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDPinfo	118	Hs.183706			Hypertension. 2002 Feb;39(2):191-6	Low-renin hypertension, altered sodium homeostasis, and an alpha-adducin polymorphism.		102680	8401	2	2002	Therefore, this study demonstrates a common genetic basis for altered cellular sodium homeostasis, impaired renal sodium handling, and salt-sensitivity of systolic blood pressure in individuals homozygous for the 460Trp polymorphism of the alpha-adducin gene. Homozygosity for this alpha-adducin allele may be an important determinant for approximately 10% of individuals with low-renin hypertension.	Cohort 279 subjects not otherwise specified in abstract 	sodium									
115495	Y	sodium transport rate, erythrocyte	UNKNOWN	UNK	Hypertension	4	4p16.3	ADD1	2815374	2901587		Glorioso, N.  et al. 2002	11882573				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		Italy	CDC GDPinfo	118	Hs.183706			Hypertension. 2002 Feb;39(2 Pt 2):357-62	alpha-Adducin 460Trp allele is associated with erythrocyte Na transport rate in North Sardinian primary hypertensives.		102680	8402	2	2002	In conclusion, our findings are consistent with the hypothesis that the Gly460Trp alpha-adducin polymorphism may affect renal Na handling through an alteration in ion transport across the cell membrane mirrored by erythrocytes. These results may also have clinical relevance because the Gly460Trp alpha-adducin polymorphism may explain, at least in part, the variability of blood pressure response to diuretics in primary hypertensive patients.	Cohort 268 never-treated North Sardinian primary hypertensives Sardinia 										
115490	Y	familial combined hyperlipidemia	CARDIOVASCULAR	CARD	Hyperlipidemia, Familial Combined	4	4p16.3	ADD1	2815374	2901587		Beeks E et al. 2001	11775124	Gly460Trp		coding sequence	Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			KGB	118	Hs.183706	systolic blood pressure		American journal of hypertension. 2001 Dec;14(12):1185-90	Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia.		102680	125	1	2001	 This study shows that the 460Trp allele is associated with FCHL. Furthermore, SBP is increased in patients carrying the 460Trp allele.	Control:121 unrelated controls (spouses);Case:79 unrelated patients with familial combined:hyperlipidemia										
115491		stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension	4	4p16.3	ADD1	2815374	2901587		Morrison, A. C.  et al. 2001	11283377				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		United States	CDC GDPinfo	118	Hs.183706			Stroke; a journal of cerebral circulation. 2001 Apr;32(4):822-9	G-protein beta3 subunit and alpha-adducin polymorphisms and risk of subclinical and clinical stroke.		102680	8398	2	2001	 The GNbeta3 gene 825C/T polymorphism is significantly associated with incident clinical ischemic stroke in a white middle-aged American population, but not in blacks. This association does not appear to be mediated by established stroke risk factors, specifically blood pressure levels or hypertension status.	Case:202 subclinical cerebral infarct cases from the Atherosclerosis Risk in Communities (ARIC) Study;Control:211 individuals rom a stratified random sample (MRI-CRS) participating in the MRI examination										
115492	N	hypertension, salt sensitive	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Ciechanowicz, A.  et al. 2001	11528213	Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Polish		CDC GDPinfo	118	Hs.183706			Kidney & blood pressure research. 2001 ;24(3):201-6	Lack of association between Gly460Trp polymorphism of alpha-adducin gene and salt sensitivity of blood pressure in Polish hypertensives.		102680	8399	2	2001	 Our results suggest lack of association between Gly460Trp polymorphism of alpha-adducin gene and salt sensitivity of blood pressure in Polish hypertensives.	Control:24 subjects with non-salt sensitive hypertension;Case:44 subjects with salt-sensitive hypertension:Poland										
115487	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Wang JG et al. 2002	12427140				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	white		KGB	118	Hs.183706			Kidney international. 2002 Dec;62(6):2152-9	Association between hypertension and variation in the alpha- and beta-adducin genes in a white population.		102680	122	1	2002	 The 1797T allele of the beta-adducin gene is associated with increased risk of hypertension in post-menopausal women and in users of oral contraceptives, particularly in the presence of the mutated alpha-adducin Trp allele. We hypothesize that inhibition of the renin-aldosterone system in men and absence of such a compensatory mechanism in women may explain, at least to some extent, the sexual dimorphism of the blood pressure phenotype in relation to the C1797T beta-adducin polymorphism.	Cohort 1848 subjects randomly selected from a white population	oral contraceptive									
115488	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587	n	Ishikawa K et al. 1998	9607391				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Japanese	Japan	KGB	118	Hs.183706			American journal of hypertension. 1998 Apr;11(4 Pt 1):502-6	No association between alpha-adducin 460 polymorphism and essential hypertension in a Japanese population.		102680	123	1	1998												
115489	N	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587	n	Kato N 1998	9495254	460 Trp variant			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Japanese	Japan	KGB	118	Hs.183706			Hypertension. 1998 Mar;31(3):730-3			102680	124	1	1998												
115483	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Sugimoto K et al. 2002	12195119				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			KGB	118	Hs.183706			Journal of hypertension. 2002 Sep;20(9):1779-84	alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects in the Ohasama study.		102680	118	1	2002	 These findings suggest the possibility that the Gly460Trp polymorphism of ADD-1 is associated with low renin hypertension.	Cohort 1490 subjects recruited from participants in the Ohasama Study northern Japan										
115485	N	blood pressure	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587	n	Bray MS et al. 2000	10912756				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			KGB	118	Hs.183706			American journal of hypertension. 2000 Jun;13(6 Pt 1):699-703	Association and linkage analysis of the alpha-adducin gene and blood pressure.		102680	120	1	2000												
115486	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587	n	Ciechanowicz A et al. 2001	11528213				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			KGB	118	Hs.183706			Kidney & blood pressure research. 2001 ;24(3):201-6	Lack of association between Gly460Trp polymorphism of alpha-adducin gene and salt sensitivity of blood pressure in Polish hypertensives.		102680	121	1	2001	 Our results suggest lack of association between Gly460Trp polymorphism of alpha-adducin gene and salt sensitivity of blood pressure in Polish hypertensives.	Control:24 subjects with non-salt sensitive hypertension;Case:44 subjects with salt-sensitive hypertension:Poland										
115479		Cardiovascular Disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Arterial Occlusive Diseases|Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Morrison AC 2002	12052841	460W			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Hispanic Caucasin		TJB	118	Hs.183706			Hypertension. 2002 Jun;39(6):1053-7	ADD1 460W allele associated with cardiovascular disease in hypertensive individuals.		102680	114	1	2002	An interaction with hypertension in the association between the ADD1 G460W polymorphism and cardiovascular disease merits further testing in additional populations.	Case:144 peripheral arterial disease cases;Case:408 incident coronary heart disease cases;Control:684 stratified random individuals of the ARIC cohort;Control:703 stratified random individuals of the ARIC cohort										
115480	N	Blood Pressure	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587	n	Schork NJ 2000	10912755	C to A transversion leading to the residue change Gly-460-Trp.[			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	African American and Caucasian	Illinois|Michigan	KGB	118	Hs.183706			American journal of hypertension. 2000 Jun;13(6 Pt 1):693-8			102680	115	1	2000												
115481	N	blood pressure	CARDIOVASCULAR	CARD		4	4p16.3	ADD1	2815374	2901587	n	Busch CP et al. 1999	10429360				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			KGB	118	Hs.183706			Journal of human genetics. 1999 ;44(4):225-9	The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.		102680	116	1	1999												
115476		asthma	IMMUNE	IMM	Asthma	16	16p13.3	ADCY9	3952652	4106187		Dewar, J. C.  et al. 2003	12724032				Adenylate cyclase 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001116.2		Great Britain	CDC GDPinfo	115	Hs.391860			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		603302	16965	2	2003	Review article											
115477		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	18	18p11	ADCYAP1	895386	901052		Ishiguro, H.  et al. 2001	11515750				Adenylate cyclase activating polypeptide 1 (pituitary)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001117.2	Japanese		CDC GDPinfo	116	Hs.592343			J Neural Transm. 2001 ;108(7):849-54	Association analysis of the pituitary adenyl cyclase activating peptide gene (PACAP) on chromosome 18p11 with schizophrenia and bipolar disorders.		102980	15018	2	2001	This study did not provide evidence for the contribution of the PACAP gene to the etiology of schizophrenia or bipolar disorders in the Japanese population.	Control not specified in abstract;Case:24 patients with pipolar disrder;Case:24 patients with schizophrenia										
115478	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	18	18p11	ADCYAP1	895386	901052		Gu, H. F.   2002	11968092				Adenylate cyclase activating polypeptide 1 (pituitary)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001117.2	Swedish	Finland|Sweden	CDC GDPinfo	116	Hs.592343			Human mutation. 2002 May;19(5):572-3	Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes Communicated by Pui-Yan Kwok Online Citation: HumanMutation, Mutation in Brief #505 (2001) Online http:/		102980	15019	2	2002	The present study thus suggest that the variants in the ADCYAP1 gene may not be major influence of the susceptibility to type 2 diabetes in Finnish and Swedish Caucasians.	Case:253 type 2 diabetic patients;Control:253 non-diabetic control subjects										
115472		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	12	12q12-q13	ADCY6	47446247	47469087		Ikoma, E.  et al. 2003	14871025				Adenylate cyclase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015270.2		Japan	CDC GDPinfo	112	Hs.525401			Journal of cardiovascular pharmacology. 2003 Dec;42 Suppl 1:S27-32	Polymorphism of the type 6 adenylyl cyclase gene and cardiac hypertrophy.		600294	8396	2	2003	It was concluded that the AA group may be at risk of developing left ventricular hypertrophy independent of increased blood pressure.	Cohort 2,068 subjects who underwent health screening for cardiovascular disease 	blood pressure									
115473		mood disorders	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	16	16p13.3	ADCY9	3952652	4106187		Toyota T et al. 2002	11840511				Adenylate cyclase 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001116.2			KGB	115	Hs.391860			American journal of medical genetics. 2002 Jan;114(1):84-92	Molecular analysis mutation screening and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders.		603302	112	1	2002	The DNA polymorphisms detected in this study can be tested in other ethnic samples and/or other psychiatric diseases.	Case Japanese patients with mood disorders not otherwise specified in abstract;Control not specified in abstract										
115475		mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	16	16p13.3	ADCY9	3952652	4106187		Toyota, T.  et al. 2002	11840511				Adenylate cyclase 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001116.2			CDC GDPinfo	115	Hs.391860			American journal of medical genetics. 2002 Jan;114(1):84-92	Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders.		603302	15017	2	2002	The DNA polymorphisms detected in this study can be tested in other ethnic samples and/or other psychiatric diseases.	Case Japanese patients with mood disorders not otherwise specified in abstract;Control not specified in abstract										
115469	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	4	4q13.3	ADAMTS3	73365550	73653380		Kawahara, C.  et al. 2005	15708897				ADAM metallopeptidase with thrombospondin type 1 motif, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014243.1			CDC GDPinfo	9508	Hs.590919			Annals of the rheumatic diseases. 2005 Mar;64(3):474-6	Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.		605011	17678	2	2005	 The analysis implies that the chromosome 4q female hip OA susceptibility is not coded for by polymorphism within the functional candidates IGFBP7, ADAMTS3, or IL8.	Case:244 female total hip replacement patients;Control:375 female controls matched for age										
115470		hepatitis B	INFECTION	INF	Hepatitis B	1	1q21.1-q21.2	ADAR	152821157	152867061		King, J. K.  et al. 2002	12447867				Adenosine deaminase, RNA-specific	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001111.3			CDC GDPinfo	103	Hs.12341			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		601059	12986	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
115471		cardiac function	CARDIOVASCULAR	CARD	Cardiomegaly|Heart Failure, Congestive|Hypertension|Disease Models, Animal	3	3q13.2-q21	ADCY5	124486088	124650082		Okumura S 2003	12904575				Adenylate cyclase 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183357.1			KGB	111	Hs.129493	pressure overload		Proceedings of the National Academy of Sciences of the United States of America. 2003 Aug;100(17):9986-90	Disruption of type 5 adenylyl cyclase gene preserves cardiac function against pressure overload.		600293	111	1	2003												
115466		Congenital thrombotic thrombocytopenic purpura	IMMUNE	IMM	Purpura, Thrombotic Thrombocytopenic	9	9q34	ADAMTS13	135269298	135314328		Pimanda JE 2004	14512317				ADAM metallopeptidase with thrombospondin type 1 motif, 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139025.2			KGB	11093	Hs.131433			Blood. 2004 Jan;103(2):627-9	Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13.		604134	6693	1	2004												
115467		arterial thrombosis	CARDIOVASCULAR	CARD		9	9q34	ADAMTS13	135269298	135314328		Gao, W. Q.  et al. 2004	15182579				ADAM metallopeptidase with thrombospondin type 1 motif, 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139025.2	Chinese		CDC GDPinfo	11093	Hs.131433			Zhonghua xue ye xue za zhi. 2004 Mar;25(3):136-8	[Study of C1423T polymorphism of the von Willebrand factor-cleaving protease gene in Chinese Han population]		604134	8394	2	2004	 C1423T polymorphism is low frequency in both controls and patients of Han population.	Control:147 age- and gender-matched healthy controls;Case:150/103 unrelated Han individuals with acute ischemic stroke (n=150) and acute myocardial infarction:(n=103)										
115468	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	10	10q2	ADAMTS14	72102564	72192201		Goertsches, R.  et al. 2005	15913795				ADAM metallopeptidase with thrombospondin type 1 motif, 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139155			CDC GDPinfo	140766	Hs.352156			Journal of neuroimmunology. 2005 Jul;164(2-Jan):140-7	Genetic association between polymorphisms in the ADAMTS14 gene and multiple sclerosis.		607506	8395	2	2005	These findings suggest a potentially important role for the ADAMTS14 gene in predisposition to MS.	Control:285 age- and sex-matched controls;Case:287 patients with MS [192 with relapsing-remitting MS (RRMS) and 95 with primary-progressive MS (PPMS)]										
115462	Y	lung function	OTHER	OTH	Asthma|Pulmonary Disease, Chronic Obstructive	20	20p13	ADAM33	3596617	3610738		van Diemen, C. C.  et al. 2005	15879414				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDPinfo	80332	Hs.173716			American journal of respiratory and critical care medicine. 2005 Aug;172(3):329-33	A Desintegrin and Metalloprotease 33 Polymorphisms and Lung Function Decline in the Population		607114	8392	2	2005	 We demonstrated that SNPs in ADAM33 are associated with accelerated lung function decline in the general population. These SNPs are also risk factors for COPD.	Cohort 1,390 subjects of the Vlagtwedde/Vlaardingen cohort 										
115464	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Howard, T. D.  et al. 2003	14564349				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2		Netherlands	CDC GDPinfo	80332	Hs.173716			The Journal of allergy and clinical immunology. 2003 Oct;112(4):717-22	Association of a disintegrin and metalloprotease 33 (ADAM33) gene with asthma in ethnically diverse populations.		607114	15016	2	2003	 Replication of the original ADAM33 findings in these 4 additional asthma populations suggests that this gene (and perhaps others that interact with it) is important in the development and pathogenesis of asthma.	Cohort 4 unique asthma populations (African American, US white, US Hispanic, and Dutch white) US and the Netherlands 										
115465		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Huang, J. L.   2005	15986064				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2		Taiwan	CDC GDPinfo	80332	Hs.173716			Journal of microbiology, immunology, and infection. 2005 Jun;38(3):158-63	Asthma severity and genetics in Taiwan.		607114	19693	2	2005												
115458	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	20	20p13	ADAM33	3596617	3610738		Lee, J. H.  et al. 2004	15196271				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2		Korea	CDC GDPinfo	80332	Hs.173716			Clinical and experimental allergy. 2004 Jun;34(6):860-5	ADAM33 polymorphism: association with bronchialhyper-responsiveness in Korean asthmatics.		607114	8388	2	2004	 Polymorphism of ADAM33 may contribute to development of BHR in asthma.	Control:151 nromal controls;Case:326 Korean asthmatics										
115459	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Cheng, L.  et al. 2004	15298558				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	Japanese	Japan	CDC GDPinfo	80332	Hs.173716			Clinical and experimental allergy. 2004 Aug;34(8):1192-201	Polymorphisms in ADAM33 are associated with allergic rhinitis due to Japanese cedar pollen		607114	8389	2	2004	 These results indicate that polymorphisms in the ADAM33 gene are associated with susceptibility to allergic rhinitis due to Japanese cedar pollen, but the functional relationship still needs clarification.	Case:95 adult individuals with Japanese cedar pollinosis;Control:95 normal healthy controls										
115461	Y	lung function	OTHER	OTH	Asthma	20	20p13	ADAM33	3596617	3610738		Simpson, A.  et al. 2005	15805180				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDPinfo	80332	Hs.173716			American journal of respiratory and critical care medicine. 2005 Jul;172(1):55-60	Polymorphisms in a disintegrin and metalloprotease 33 (ADAM33) predict impaired early-life lung function.		607114	8391	2	2005	 Polymorphisms in ADAM33 predict impaired early-life lung function. The functionally relevant polymorphism is likely to be at the 5' end of the gene.	Cohort 285/470 children at age three (n=285) and five years (n=470) from a prospective birth cohort study 										
115455	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Werner M 2004	14720258				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	European	Germany	KGB	80332	Hs.173716			Clinical and experimental allergy. 2004 Jan;34(1):26-31	Asthma is associated with single-nucleotide polymorphisms in ADAM33.		607114	6843	1	2004	This study replicates the recently published association between asthma and ADAM33 gene variants. However, most of the associated SNPs were at non-identical positions in the German, UK and US samples. As linkage disequilibrium is high among the tested SNPs, and there is no known functional polymorphism, either not-tested variants in ADAM33, unknown regulatory elements or a gene in close proximity is responsible for this association.	Case asthmatic individuals in the European Community Respiratory Health Study;Control controls from the European Community Respiratory Health Study										
115456	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Werner, M.  et al. 2004	14720258				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2		Germany	CDC GDPinfo	80332	Hs.173716			Clinical and experimental allergy. 2004 Jan;34(1):26-31	Asthma is associated with single-nucleotide polymorphisms in ADAM33		607114	8386	2	2004	This study replicates the recently published association between asthma and ADAM33 gene variants. However, most of the associated SNPs were at non-identical positions in the German, UK and US samples. As linkage disequilibrium is high among the tested SNPs, and there is no known functional polymorphism, either not-tested variants in ADAM33, unknown regulatory elements or a gene in close proximity is responsible for this association.	Case asthmatic individuals in the European Community Respiratory Health Study;Control controls from the European Community Respiratory Health Study										
115457	Y	asthma	IMMUNE	IMM	Asthma|Disease Progression|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Jongepier, H.  et al. 2004	15144468				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDPinfo	80332	Hs.173716			Clinical and experimental allergy. 2004 May;34(5):757-60	Polymorphisms of the ADAM33 gene are associated with accelerated lung function decline in asthma.		607114	8387	2	2004	 These findings suggest that a variant in ADAM33 is not only important in the development of asthma but also in disease progression, possibly related to enhanced airway remodelling.	Cohort 200 asthma patinets 										
115452		alcohol associated symptoms; alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q21.3	ADAM11	40210365	40214740		Shea, S. H.  et al. 2001	11545539				ADAM metallopeptidase domain 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002390.4	Jewish	California	CDC GDPinfo	4185	Hs.6088			Behavior genetics. 2001 Mar;31(2):231-9	ADH2 and alcohol-related phenotypes in Ashkenazic Jewish American college students.		155120	15015	2	2001	Results suggest that Ashkenazic Jewish Americans with ADH2*2 alleles drink less frequently, which might contribute, in part, to the overall lower rates of alcoholism in this population.	Cohort 84 Ashkenazic Jewish American college students 										
115453	Y	BHR	OTHER	OTH	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738	P=0.03-0.006	Van Eerdewegh P 2002	12110844	6 SNPs (see text)			ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	UK/US Caucasian	United States|Great Britain	KGB	80332	Hs.173716			Nature. 2002 Jul;418(6896):426-30			607114	6841	1	2002												
115454	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Howard TD 2003	14564349				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	unknown	Netherlands	KGB	80332	Hs.173716			The Journal of allergy and clinical immunology. 2003 Oct;112(4):717-22	Association of a disintegrin and metalloprotease 33 (ADAM33) gene with asthma in ethnically diverse populations.		607114	6842	1	2003	 Replication of the original ADAM33 findings in these 4 additional asthma populations suggests that this gene (and perhaps others that interact with it) is important in the development and pathogenesis of asthma.	Cohort 4 unique asthma populations (African American, US white, US Hispanic, and Dutch white) US and the Netherlands										
115449		asthma	IMMUNE	IMM	Crohn Disease|Asthma	20	20q12-q13.11	ADA	42681576	42713790			16224193				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDPinfo	100	Hs.255479			International archives of allergy and immunology. 2005 Dec;138(4):328-33	Genetic polymorphism and TH1/TH2 orientation		608958	20254	2	2005	 The pattern of differences between bronchial asthma versus CD is compatible with the hypothesis that some of the genetic systems considered contribute to Th1/Th2 orientation.											
115450	N	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	15	15q2	ADAM10	56675801	56829469	n	Plamont MA et al. 2003	12782344				ADAM metallopeptidase domain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001110.2			KGB	102	Hs.578508			Neuroscience letters. 2003 Jun;344(2):132-4	Variation at the ADAM10 gene locus is not associated with Creutzfeldt-Jakob disease.		602192	110	1	2003	Our data indicate that ADAM10 is unlikely to confer genetic susceptibility to CJD.	Case Creutzfeldt-Jakob disease patients;Control healthy individuals										
115451	N	Jacob-Creutzfeld disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	15	15q2	ADAM10	56675801	56829469		Plamont, M. A.  et al. 2003	12782344				ADAM metallopeptidase domain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001110.2			CDC GDPinfo	102	Hs.578508			Neuroscience letters. 2003 Jun;344(2):132-4	Variation at the ADAM10 gene locus is not associated with Creutzfeldt-Jakob disease.		602192	15014	2	2003	Our data indicate that ADAM10 is unlikely to confer genetic susceptibility to CJD.	Case Creutzfeldt-Jakob disease patients;Control healthy individuals										
115445		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	20	20q12-q13.11	ADA	42681576	42713790		Wright, K.  et al. 2004	15257174				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDPinfo	100	Hs.255479			Journal of hypertension. 2004 Aug;22(8):1519-22	The role of adenosine-related genes variants in susceptibility to essential hypertension.		608958	15076	2	2004	 The adenosine-related gene variants do not appear to alter susceptibility to the disease in this group of essential hypertensives. However, involvement of these genes and the adenosine system cannot be conclusively excluded from essential hypertension pathogenesis as other gene variants may still be involved.	Case:249 unrelated hypertensive individuals;Control:249 normotensive controls										
115446		Crohn's disease; asthma; malaria	IMMUNE	IMM	Malaria|Crohn Disease|Asthma|Genetic Predisposition to Disease	20	20q12-q13.11	ADA	42681576	42713790		Bottini, N.  et al. 2005	15761857				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2		Italy	CDC GDPinfo	100	Hs.255479			American journal of physical anthropology. 2005 Sep;128(1):194-8	Adaptation to past malarial endemia and susceptibility to common diseases in modern populations: a study of adenosine deaminase and MNblood group genetic polymorphisms.		608958	17063	2	2005												
115447	Y	hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	20	20q12-q13.11	ADA	42681576	42713790		Saito, T.  et al. 2004	15063762				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2		Japan	CDC GDPinfo	100	Hs.255479			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		608958	17702	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
115441		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.11	ADA	42681576	42713790		Baroni MG 1992	1446805				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2	Italian	Great Britain|Italy	Y Wang	100	Hs.255479	MODY		Diabetes. 1992 Dec;41(12):1640-3	Sib-pair analysis of adenosine deaminase locus in NIDDM.		608958	109	1	1992	We conclude that  mutations within or around the ADA locus are unlikely to play a major role in the etiology of NIDDM.											
115442		autism	PSYCH	PSY	Autistic Disorder	20	20q12-q13.11	ADA	42681576	42713790		Persico, A. M.  et al. 2000	11121182				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2	Italian		CDC GDPinfo	100	Hs.255479			American journal of medical genetics. 2000 Dec;96(6):784-90	Adenosine deaminase alleles and autistic disorder:case-control and family-based association studies.		608958	8384	2	2000	ADA2 alleles were significantly more frequent in 91 Caucasian autistic patients of Italian descent than in 152 unaffected controls (17.6% vs. 7.9%, P = 0.018), as well as among their fathers.	Control:152 unaffected healthy controls;Case:91 Italian Caucasian autistic patients										
115443		hypertension	CARDIOVASCULAR	CARD		20	20q12-q13.11	ADA	42681576	42713790		Tie, J.  et al. 2002	12935677				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2	Chinese		CDC GDPinfo	100	Hs.255479			Legal medicine (Tokyo, Japan). 2002 Jun;4(2):109-12	Two STR loci polymorphisms of adenosine deaminase gene in Japanese population		608958	8385	2	2002	At the ADA-TTTA locus, no significant differences were observed between Japanese and Chinese or between Japanese and Basques, but significant differences were found between our Japanese population and Italians and Mossi.	Cohort 235 Japanese individuals 										
115437	Y	Left-right axis malformations	DEVELOPMENTAL	DEV	Situs Inversus	3	3p22	ACVR2B	38470793	38509637		Kosaki R et al. 1999	9916847				Activin A receptor, type IIB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001106.2			KGB	93	Hs.517775			American journal of medical genetics. 1999 Jan;82(1):70-6	Left-right axis malformations associated with mutations in ACVR2B the gene for human activin receptor type IIB.		602730	107	1	1999	We conclude that  ACVR2B mutations are present only rarely among human LR axis malformation cases.											
115438	Y	cerebral arteriopathy	CARDIOVASCULAR	CARD	Arteriovenous Malformations	12	12q11-q14	ACVRL1	50587468	50603412		Pawlikowska, L.  et al. 2005	16179574				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1			CDC GDPinfo	94	Hs.591026			Stroke; a journal of cerebral circulation. 2005 Oct;36(10):2278-80	Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations.		601284	8383	2	2005	 A common polymorphism in ALK1 is associated with sporadic BAVM, suggesting that genetic variation in genes mutated in familial BAVM syndromes may play a role in sporadic BAVMs.											
115439		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Epistaxis|Arteriovenous Malformations|Telangiectasia, Hereditary Hemorrhagic	12	12q11-q14	ACVRL1	50587468	50603412		Berg, J.  et al. 2003	12920067				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1			CDC GDPinfo	94	Hs.591026			Journal of medical genetics. 2003 Aug;40(8):585-90	Hereditary haemorrhagic telangiectasia: aquestionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.		601284	15012	2	2003	 Our questionnaire based study provides evidence that the HHT phenotype caused by mutations in endoglin (HHT1) is distinct from, and more severe than, HHT caused by mutations in ALK1 (HHT2). This has significant implications for diagnosis, screening, and treatment in the two different forms of HHT, as well as for understanding the pathogenesis of the disease.	Cohort 83 subjects affected with hereditary hemorrhagic telangiectasia 										
115433	Y	endurance, elite	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Yang, N.  et al. 2003	12879365				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDPinfo	89	Hs.445037			American journal of human genetics. 2003 Sep;73(3):627-31	ACTN3 genotype is associated with human elite athletic performance.		102574	15010	2	2003	The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection.	Case male and female elite sprint athletes;Control:controls										
115434	Y	muscle testing	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Clarkson, P. M.  et al. 2005	15718405				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDPinfo	89	Hs.445037			Journal of applied physiology (Bethesda, Md :  1985). 2005 Jul;99(1):154-63	ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.		102574	15011	2	2005	An analysis of variability attributable to genotype effects showed that ~2% of baseline MVC strength and of the 1RM strength gain after training was attributable to ACTN3 genotype (likelihood-ratio test p-value, p = 0.01), suggesting that ACTN3 is one of many genes contributing to genetic variation in muscle performance and adaptation to exercise.	Cohort 247/355 men (n=247) and women (n=355) enrolled in a 12 wk standardized elbow flexor/extensor resistance training program of the non-dominant arm at one of eight study centers 										
115435		muscle testing	NORMALVARIATION	NV	Rhabdomyolysis|Genetic Predisposition to Disease	11	11q13-q14	ACTN3	66070966	66087373		Clarkson, P. M.  et al. 2005	15817725				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDPinfo	89	Hs.445037			Journal of applied physiology (Bethesda, Md :  1985). 2005 Aug;99(2):564-9	ACTN3 and MLCK genotype associations with exertional muscle damage.		102574	18487	2	2005	These results show that variations in genes coding for specific myofibrillar proteins influence phenotypic responses to muscle damaging exercise.	Cohort 157 subjects who performed a standard elbow flexion eccentric exercise protocol 										
115430	Y	Dominant Progressive Deafness	AGING	AGE	Hearing Loss, Sensorineural	17	17q25	ACTG1	77091591	77094422		Zhu M 2003	13680526	T89I and K118M-P264L and P332A		coding sequence	Actin, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001614.2	four families		KGB	71	Hs.514581	Age-related hearing loss (presbycusis)		American journal of human genetics. 2003 Nov;73(5):1082-91			102560	104	1	2003												
115431	N	dystrophinopathy	OTHER	OTH	Muscular Dystrophy, Duchenne	11	11q13-q14	ACTN3	66070966	66087373	n	Suminaga R et al. 2000	10797427				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			KGB	89	Hs.445037			American journal of medical genetics. 2000 May;92(1):77-8	Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy.		102574	105	1	2000												
115432	Y	human elite athletic performance	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373	< 0.001	Yang N 2003	12879365		premature stop codon, abolishes expression of alpha-actinin-3 protein	coding sequence	Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1	Australians of white European ancestry		KGB	89	Hs.445037		Loss of alpha-actinin-3 protein in fast skeletal muscle fibres	American journal of human genetics. 2003 Sep;73(3)	ACTN3 genotype is associated with human elite athletic performance.	rs1815739	102574	106	1	2003	The 577X null allele of ACTN3 is strongly negatively associated with elite sprint athlete status, and weakly positively associated with elite endurance athlete status.	Case: elite sprint/power and endurance athletes; Control: non-elite controls (sedentary individuals and amateur athletes)										
115426	Y	schizophrenia; alcohol abuse; depressive disorder, major; dermal erythema; schizoaffective disorder	PSYCH	PSY	Erythema|Depressive Disorder	X	Xq22.3-q23	ACSL4	108771219	108863275		Covault, J.  et al. 2004	15108178				Acyl-CoA synthetase long-chain family member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004458.1			CDC GDPinfo	2182	Hs.268785			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):42-7	Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema.		300157	8378	2	2004	Male subjects with the T0 genotype showed greater dermal erythema following topical application of methylnicotinate, suggesting that this polymorphism may be in linkage disequilibrium with a functional polymorphism of the FACL4 gene that modulates re-sequestration of agonist-released free AA. We observed a significant excess of the T allele in subjects with major depression, as compared with controls (49% vs. 38%; P = 0.003) and a non-significant excess of the T allele in schizophrenia (44%; P = 0.29). The allele frequency for subjects with alcohol dependence did not differ from controls.	Case schizophrenic patients;Control:controls;Case:198/58/70 subjects with major depression (n=198), schizophrenia of schizoaffective disorder (n=58), and with alcohol dependence without co-morbid psychiatric illness (n=70);Control:229:controls										
115427	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q42.13-q42.2	ACTA1	227633615	227636466		Wang, J.  et al. 2002	12210873				Actin, alpha 1, skeletal muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001100.3		China	CDC GDPinfo	58	Hs.1288			Movement disorders. 2002 Jul;17(4):767-71	ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset.		102610	14595	2	2002	These data suggest that ACT polymorphism does not influence the risk for developing PD. UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD.	Case:160 Chinese Parkinson's disease cases;Control:160 carefully matched control subjects										
115428		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q42.13-q42.2	ACTA1	227633615	227636466		Retz, W.  et al. 2001	11702052				Actin, alpha 1, skeletal muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001100.3			CDC GDPinfo	58	Hs.1288			Psychiatric genetics. 2001 Sep;11(3):115-22	Potential genetic markers of sporadic Alzheimer's dementia		102610	17991	2	2001	We conclude that , apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease.	Case patients suffering from Alzheimer's dementia;Control non-demented psychiatric patients										
115424		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	2	2p25	ACP1	254871	268282			11436564				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		171500	20250	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
115425		atherosclerosis, coronary; tuberculosis	CARDIOVASCULAR	CARD		2	2p25	ACP1	254871	268282		Evseeva IV  et al. 2001	11771313				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2	Russian		CDC GDPinfo	52	Hs.558296			Genetika. 2001 Nov;37(11):1571-7	[Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of Russia]		171500	20251	2	2001	Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean FST = 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1 locus (FST = 0.056).											
115421		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2004	15586390				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Diabetes. 2005 Jul-Aug;21(4):353-8	Risk of type 1 diabetes in childhood and maternal age at delivery, interaction with ACP1 and sex.		171500	15006	2	2004	 The present data confirm the strong association between maternal age at delivery and risk of type 1 diabetes in the child. In addition, our analysis suggests a complex interaction among maternal age, sex of infant and ACP1 concerning age at diagnosis of diabetes. Thus, risk and clinical course of type 1 diabetes seem to be dependent on both maternal environment during intrauterine development and foetal genetic factors.	Case:189 consecutive children with type 1 diabetes:Sardinia;Control:5,460 consecutive newborns from the same population										
115422		glucose	METABOLIC	MET		2	2p25	ACP1	254871	268282		Iannaccone, U.  et al. 2005	15988697				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Metabolism:  clinical and experimental. 2005 Jul;54(7):891-4	Serum glucose concentration and ACP1 genotype in healthy adult subjects.		171500	15007	2	2005												
115423		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	2	2p25	ACP1	254871	268282			11785295				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		171500	16879	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
115418		diabetes, type 1	IMMUNE	IMM		2	2p25	ACP1	254871	268282		Faggioni, G.  et al. 2002	12418966				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Annals of human genetics. 2002 Jul;66(Pt 4):245-54	Identification of two SNPs in the 5' flanking region of the ACP1 gene and evaluation of disequilibrium among polymorphic sites.		171500	15003	2	2002	Overall, statistically significant deviations from expected frequencies assuming equilibrium have been	Cohort 62 unrelated subjects from the Italian population 										
115419	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2p25	ACP1	254871	268282		Meloni, G. F.  et al. 2003	12640337				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Medical science monitor. 2003 Mar;9(3):CR105-8	Association of the ACP1 genotype with metabolic parameters upon initial diagnosis of type 1 diabetes.		171500	15004	2	2003	 These differences suggest that the enzyme might be involved in different signal transduction pathways relevant in the pathogenesis of these two classes of diabetic disorders. It would be interesting to study the possible correlation in Type 1 diabetes between ACP1 and immunological parameters.	Cohort 189 consecutive children with type 1 diabetes Italy 										
115420	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2004	15281007				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Metabolism:  clinical and experimental. 2004 Aug;53(8):995-1001	Type 2 diabetes and the genetics of signal transduction: A study of interaction betweenadenosine deaminase and acid phosphatase locus 1 polymorphisms		171500	15005	2	2004	These findings suggest that both ACP1 and ADA contribute to the clinical manifestations of type 2 diabetes and probably also have a marginal influence on susceptibility to the disease. Both additive and epistatic interactions between the 2 systems seem to be operative.	Cohort 280 adult subjects with type 2 diabetes Penne (Italy) 										
115415	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2002	11912546				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2		Italy	CDC GDPinfo	52	Hs.558296			Metabolism:  clinical and experimental. 2002 Apr;51(4):419-22	Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner		171500	15000	2	2002	The data suggest that acid phosphatase genotype affects the age of onset and probably also the sex ratio in type 1 diabetes. Sex hormones might modulate the susceptibility to autoimmune diseases, including type 1 diabetes, through the influence of signal transduction pathways involved in immune functions. Elucidation of the molecular basis for gender differences in the course and severity of type 1 diabetes could have important implications for treatment as well, because there might be gender-specific effects in the response to immunotherapy.	Cohort 189 consecutive children with type 1 diabetes admitted to the Pediatric Clinic Sardinia Cohort 86 adolescent patients with recently diagnosed type 1 diabetes continental Italy 										
115416		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2002	12231445				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Neuroscience letters. 2002 Sep;330(2):198-200	Association between the low molecular weight cytosolic acid phosphatase gene ACP1*A and comorbid features of Tourette syndrome.		171500	15001	2	2002	The frequency of the nonA allele was markedly increased in TS cases relative to controls (P<0.0005), but this difference was restricted to cases with comorbid attention-deficit hyperactivity disorder (P<0.0001) and conduct disorder (P<0.0002), while having little relevance to TS itself.	Case:184 European descent, Caucasian male Tourette syndrome:cases;Control:539 screened controls										
115412		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	2	2p25	ACP1	254871	268282			15230135				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Ter Arkh. 2004 ;76(5):61-5	[Allele polymorphism of alkaline phosphatase, acid soluble phosphatase, and vitamin D-binding protein genes in postmenopausal osteoporosis]		171500	10794	2	2004	 It is suggested that genotypes SS, 2F and FS have marked functional differences in fixation and transport of vitamin D active metabolites involved in metabolism of bone tissue in OP.	Control:51 osteoporosis free femas in the same age interval (mean age 69.0 +/- 5.6 years);Case:70 females with osteoporosis aged 60-79 years (mean age 71.0 +/- 6.2 years)										
115413	Y	intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Pregnancy in Diabetics|Birth Weight	2	2p25	ACP1	254871	268282		Bottini, E.  et al. 2001	11369750				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2		Italy	CDC GDPinfo	52	Hs.558296			International journal of epidemiology. 2001 Apr;30(2):400-2	The genetics of signal transduction and the effect of smoking on intrauterine growth.		171500	14998	2	2001	The data from these independent samples point to a protective role of maternal ACP1 genotypes with medium-high activity against intrauterine growth retardation caused by smoking.	Case:155 diabetic puerperae:Rome, Italy;Control:349 consecutive normal newborn infants:Rome, Italy	smoking (tobacco)									
115414	Y	intrauterine growth	REPRODUCTION	REP		2	2p25	ACP1	254871	268282		Gloria-Bottini, F.  et al. 2000	11534018				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			American journal of human biology. 2000 Mar;12(2):214-220	Adenosine deaminase-acid phosphatase association and the environment: A study in a continentalItalian population.		171500	14999	2	2000	The present data suggest that ADA and ACP1 interact during intrauterine life with effects on development and survival and that such effects are dependent on local environment and season of	Cohort 350 newborns Rome, Italy Cohort 351 newborns Penne, Italy 										
115409		diabetes, type 1	IMMUNE	IMM		2	2p25	ACP1	254871	268282		Wilder, J. A.  et al. 2004	15974295				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Human biology; an international record of research. 2004 Dec;76(6):817-35	European ACP1*C allele has recessive deleterious effects on early life viability.		171500	8376	2	2004												
115410		asthma	IMMUNE	IMM	Crohn Disease|Asthma	2	2p25	ACP1	254871	268282			16224193				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			International archives of allergy and immunology. 2005 Dec;138(4):328-33	Genetic polymorphism and TH1/TH2 orientation		171500	8377	2	2005	 The pattern of differences between bronchial asthma versus CD is compatible with the hypothesis that some of the genetic systems considered contribute to Th1/Th2 orientation.											
115411		tuberculosis	INFECTION	INF		2	2p25	ACP1	254871	268282		Tarskaia, L. A.  et al. 2002	11963573				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Genetika. 2002 Mar;38(3):426-9	[Genetic polymorphism of erythrocytic enzymes in Yakut populations]		171500	10394	2	2002	The allelic frequencies of the polymorphic systems	Cohort Yakut populations 										
115406	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2p25	ACP1	254871	268282		Bottini N 2004	11912546				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2	Italy	Italy	Y Wang	52	Hs.558296			Metabolism:  clinical and experimental. 2002 Apr;51(4):419-22	Genotypes of cytosolic low-molecular-weight protein-tyrosine-phosphatase correlate with age at onset of type 1 diabetes in a sex-specific manner		171500	102	1	2004	The data suggest that acid phosphatase genotype affects the age of onset and probably also the sex ratio in type 1 diabetes. Sex hormones might modulate the susceptibility to autoimmune diseases, including type 1 diabetes, through the influence of signal transduction pathways involved in immune functions. Elucidation of the molecular basis for gender differences in the course and severity of type 1 diabetes could have important implications for treatment as well, because there might be gender-specific effects in the response to immunotherapy.	Cohort 189 consecutive children with type 1 diabetes admitted to the Pediatric Clinic Sardinia Cohort 86 adolescent patients with recently diagnosed type 1 diabetes continental Italy										
115407		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2p25	ACP1	254871	268282		Lucarelli P 1978	621091				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			Y Wang	52	Hs.558296			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		171500	103	1	2004												
115408	Y	haptoglobin development	DEVELOPMENTAL	DEV	Prenatal Exposure Delayed Effects	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2004	15359537				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Human biology; an international record of research. 2004 Apr;76(2):289-97	Maternal cigarette smoking, metabolic enzyme polymorphism, and developmental events in the early stages of extrauterine life		171500	8375	2	2004	The results indicate that the ACP1 genotype modifies the deleterious effects of smoking on development not only during intrauterine life but also during the early stage of extrauterine life.	Cohort 299 infants Italy 										
115403		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q22	ACHE	100325550	100332475		Clarimon, J.  et al. 2003	12928915				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			Journal of neurology. 2003 Aug;250(8):956-61	Association study between Alzheimer's disease and genes involved in Abeta biosynthesis, aggregation and degradation: suggestive results with BACE1.		100740	15391	2	2003	 These data suggest a possible genetic relation between BACE1 and AD.	Case Alzheimer's disease cases;Control:controls										
115404	Y	triglyceride levels	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	2	2p25	ACP1	254871	268282		Bottini N et al. 2002	12409270				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			KGB	52	Hs.558296			Molecular genetics and metabolism. 2002 Nov;77(3):226-9	Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women.		171500	100	1	2002	The present study suggests that those who gain weight and carry the ACP1 *A allele may be partially protected against developing the metabolic syndrome. The confirmation of ACP1 as a modifier gene of the metabolic complications could open the door to the prevention of the lethal complications of obesity.	Case:135/60 very obese (n=135) and moderately obese (n=60):women;Control:82 non-obese women										
115405	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	2	2p25	ACP1	254871	268282		Bottini N et al. 2002	12231445				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			KGB	52	Hs.558296			Neuroscience letters. 2002 Sep;330(2):198-200	Association between the low molecular weight cytosolic acid phosphatase gene ACP1*A and comorbid features of Tourette syndrome.		171500	101	1	2002	The frequency of the nonA allele was markedly increased in TS cases relative to controls (P<0.0005), but this difference was restricted to cases with comorbid attention-deficit hyperactivity disorder (P<0.0001) and conduct disorder (P<0.0002), while having little relevance to TS itself.	Case:184 European descent, Caucasian male Tourette syndrome:cases;Control:539 screened controls										
115400		anxiety disorder	PSYCH	PSY		7	7q22	ACHE	100325550	100332475		Sklan, E. H.  et al. 2004	15060281				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			Proceedings of the National Academy of Sciences of the United States of America. 2004 Apr;101(15):5512-7	Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study.		100740	14995	2	2004	Our findings indicate that a significant source of anxiety feelings involves inherited and acquired parameters of acetylcholine regulation that can be readily quantified, which can help explaining part of the human variance for state and trait anxiety.	Cohort 461 healthy subjects from the Health, Risk Factors, Exercise Training, and Genetics Family Study 										
115402		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q22	ACHE	100325550	100332475		Cook, L. J.  et al. 2005	15690550				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):8-May	Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.		100740	14997	2	2005	Replication analyses of these two loci failed to detect any significant association for disease in our case-control samples.	Case Alzheimer's disease cases from two sample sets;Control controls from two sample sets										
115397		nephropathy, diabetic	RENAL	REN		7	7q22	ACHE	100325550	100332475		Hasin, Y.  et al. 2004	15459952				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			Human mutation. 2004 Nov;24(5):408-16	A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterasegene.		100740	8372	2	2004	The low number of SNPs identified until now in the ACHE gene is ascribed to technical hurdles arising from the high GC content and the presence of numerous repeat sequences, and does not reflect its intrinsic heterozygosity. Among the SNPs resulting in an amino acid substitution, three are within the	Cohort 										
115398	Y	acetylcholinesterase; paraoxonase	UNKNOWN	UNK		7	7q22	ACHE	100325550	100332475		Bryk, B.  et al. 2005	15715671				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			Journal of neurochemistry. 2005 Mar;92(5):1216-27	Inherited and acquired interactions between ACHE and PON1 polymorphisms modulate plasma acetylcholinesterase and paraoxonase activities.		100740	8373	2	2005	Our findings demonstrate that polymorphism(s) in the adjacent PON1 and ACHE genes affect each other's expression, predicting for carriers of biochemically debilitating ACHE/PON1 polymorphisms adverse genome-environment interactions.	Cohort 157 healthy Israelis 										
115399		anxiety disorder	PSYCH	PSY		7	7q22	ACHE	100325550	100332475		Hasin, Y.  et al. 2005	15974920				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			CDC GDPinfo	43	Hs.154495			Current Alzheimer research. 2005 Apr;2(2):207-18	Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations.		100740	8374	2	2005												
115393		hypertension	CARDIOVASCULAR	CARD		X	Xp22	ACE2	15489076	15530199		Liu, T.  et al. 2005	16215952				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1	Chinese		CDC GDPinfo	59272	Hs.178098			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):569-71	[Association of angiotensin I converting enzyme 2 gene polymorphism with essential hypertension in Chinese]		300335	8370	2	2005	 The G8790A polymorphism may be related to the essential hypertension with cardiac incompetence in Chinese population. Additional investigation will be need to confirm the association.											
115394	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	X	Xp22	ACE2	15489076	15530199		Lieb, W.  et al. 2005	16283142				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDPinfo	59272	Hs.178098			Journal of molecular medicine (Berlin, Germany). 2006 Jan;84(1):88-96	Association of angiotensin-converting enzyme 2 (ACE2) gene polymorphisms with parameters of left ventricular hypertrophy in men Results of the MONICA Augsburg echocardiographic substudy.		300335	8371	2	2005												
115396	Y	acute sensitivity to anti-acetylcholinesterases	OTHER	OTH	Hypersensitivity|Genetic Predisposition to Disease	7	7q22	ACHE	100325550	100332475		Shapira M et al. 2000	10814709			promoter	Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3			KGB	43	Hs.154495			Human molecular genetics. 2000 May;9(9):1273-81	A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases.		100740	99	1	2000												
115390		macular degeneration, age-related	VISION	VIS	Macular Degeneration	17	17q23	ACE	58908165	58952935			16384981				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		106180	20247	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
115391		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q23	ACE	58908165	58952935		Humma, L. M.  et al. 2002	12116890				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		106180	20248	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
115392		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199		Frojdo, S.  et al. 2005	16211375				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1		Finland	CDC GDPinfo	59272	Hs.178098			Diabetologia. 2005 Nov;48(11):2278-81	Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy.		300335	8369	2	2005												
115387	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Camelo, D.  et al. 2004	14759632				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Colombian	Colombia	CDC GDPinfo	1636	Hs.298469			Journal of the neurological sciences. 2004 Mar;218(2-Jan):47-51	Angiotensin-converting enzyme and alpha-2-macroglobulin gene polymorphisms are not associated with Alzheimer's disease in Colombian patients.		106180	20244	2	2004	Using logistic regression and multiple correlation analysis (MCA), we confirmed that the main risk factor associated and consistently grouped with AD patients in this population is APOE4, but this association was not observed with alleles and genotypes of ACE and A2M.	Control:69 nromal controls;Case:83 Alzheimer's disease patients:Colombia										
115388		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Cacabelos, R.   2002	12452480				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		106180	20245	2	2002	Review article											
115389		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Barton, A.  et al. 2002	11981324				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		106180	20246	2	2002	Review article											
115385		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	17	17q23	ACE	58908165	58952935		Zapico, I.  et al. 2000	11036822				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The Journal of rheumatology. 2000 Oct;27(10):2308-11	A DNA polymorphism at the alpha2-macroglobulin gene is associated with the severity of rheumatoid arthritis.		106180	20242	2	2000	 The genetic variation at alpha2m is associated with the severity of RA. Carriers of the alpha2m deletion allele would have increased risk of developing an early active severe form of the disease. Our data suggest that alpha2m could be a valuable target in the treatment of RA.	Case:160 patients (71 with early active severe RA, 89 with non-severe RA);Control:500 healthy controls from the same Caucasian population:Asturian/Spanish										
115386		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Prince, J. A.  et al. 2001	11436125				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Sweden	CDC GDPinfo	1636	Hs.298469			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		106180	20243	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
115383		plasminogen activator inhibitor-1	METABOLIC	MET	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Prisco, D.  et al. 2000	11289708				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			International journal of clinical & laboratory research. 2000 ;30(4):179-85	Angiotensin converting enzyme DD genotype affects the changes of plasma plasminogen activator inhibitor-1 activity after primary percutaneous transluminal coronary angioplasty in acute myocardial infarction patients.		106180	19380	2	2000	these data suggest that renin-angiotensin system genes are involved in the regulation of the fibrinolytic response to balloon injury, possibly affecting angiotensin converting enzyme activity. This interaction between the renin-angiotensin system and hemostasis may be a mechanism by which ACE DD genotype affects the risk of restenosis after percutaneous transluminal angioplasty.	Cohort 29 consecutive acute myocardial infarction patients 										
115384		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion	17	17q23	ACE	58908165	58952935		Gori, A. M.  et al. 2004	15213845				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Thrombosis and haemostasis. 2004 Jul;92(1):54-60	Impaired fibrinolysis in retinal vein occlusion: arole for genetic determinants of PAI-1 levels.		106180	19405	2	2004		Control:112 healthy subjects (52 males and 60 females; range 20-84 years; median age 57 years);Case:112 retinal vein occlusion patients (52 males and 60 females; range 18-83 years; median age 60 years)		ACE	DD	PAI-1	4G4G			Y	retinal vascular occlusion	
115380		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Zhu, X.  et al. 2003	12695419				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2003 May;41(5):1027-34	Associations between hypertension and genes in the renin-angiotensin system.		106180	19229	2	2003	Thus, in this biracial population sample, we find evidence that interindividual variation in the renin-angiotensin system genes contributes to hypertension risk.	Control:108/113 African American (n=108) and European American:(n=113) controls;Case:84/41 African American (n=84) and European American (n=41)hypertension cases										
115381		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kosachunhanun, N.  et al. 2003	14530292				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		106180	19230	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
115378	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies	17	17q23	ACE	58908165	58952935		Wu, S.  et al. 2000	11776100				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Chinese medical journal. 2000 May;113(5):437-41	Relationship between the renin-angiotensin system genes and diabetic nephropathy in the Chinese.		106180	19227	2	2000	 Our study revealed RAS genes, ACE and AGT-M235T but not AGT-T174M, AGTR1 or REN genotypes, as contributing factors for DN in type 2 diabetes mellitus in Chinese.	Case diabetics with nephropathy;Case diabetics without nephropathy;Control not specified in abstract										
115379	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	17	17q23	ACE	58908165	58952935		Sunder-Plassmann, G.  et al. 2002	12394950				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		106180	19228	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
115375		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Falchi, A.  et al. 2005	16248996				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Corsica	France	CDC GDPinfo	1636	Hs.298469			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		106180	18943	2	2005												
115376		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Obineche, E. N.  et al. 2001	11768721				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United Arab Emirates	CDC GDPinfo	1636	Hs.298469			Hypertension research. 2001 Nov;24(6):635-9	An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.		106180	19008	2	2001	In conclusion, our results suggest an association between LVH and the C825T allele of the G-protein beta3 subunit gene.	Control:115 age- and sex-matched controls (23 hypertensives and 92 normotensives) who did not present with LVH, from United Arab Emirati population;Case:98 subjects with LVH (78 hypertensives and 20 normotensives) from United Arab Emirati population										
115372		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Spiridonova, M. G.  et al. 2001	11507973				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Russia	CDC GDPinfo	1636	Hs.298469			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		106180	18938	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
115373		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935			11963567				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		106180	18939	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
115370		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Morgan, T. M.  et al. 2003	12791034				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical genetics. 2003 Jul;64(1):17-Jul	Overestimation of genetic risks owing to small sample sizes in cardiovascular studies		106180	17870	2	2003	Despite research-based genotyping of over 50,000 subjects, the overall risk for myocardial infarction as a result of PLA2 and ACE D remains doubtful. Our study provides a clear example of how publication of underpowered studies can spuriously implicate polymorphisms as genetic risk factors.											
115371	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Poch, E.  et al. 2001	11711524				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		106180	18710	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
115368		maternal microchimerism	OTHER	OTH		17	17q23	ACE	58908165	58952935		Berry, S. M.  et al. 2004	15128924				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		106180	17193	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
115369	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	17	17q23	ACE	58908165	58952935		Welsby, I. J.  et al. 2005	15892865				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		106180	17862	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
115366		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Adams, G. T.  et al. 2003	12871600				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		106180	16690	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
115367	Y	Gaucher disease	METABOLIC	MET	Hypertension, Pulmonary|Gaucher Disease	17	17q23	ACE	58908165	58952935		Mistry, P.  et al. 2002	12359135				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):91-8	Pulmonary hypertension in type 1 Gaucher's disease:genetic and epigenetic determinants of phenotype and response to therapy.		106180	16869	2	2002	Our study reveals a remarkable predisposition for PH in type 1 GD. Progression to severe, life-threatening PH occurs in the presence of additional genetic factors (non-N370S GBA mutation, positive family history, and ACE I gene polymorphism) and epigenetic modifiers (i.e., asplenia and female sex). Splenectomy should be avoided and in high-risk patients, ERT+/-vasodilators/coumadin should be initiated.	Case:134 consecutive patients with Type 1 Gaucher's disease (on enzyme replacment therapy (n=94) and untreated:(n=40))	enzyme replacement therapy									
115363		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	17	17q23	ACE	58908165	58952935		Lerer, B.  et al. 2002	12366879				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		106180	16394	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
115364		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Casas, J. P.  et al. 2004	15534175				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		106180	16572	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
115365		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q23	ACE	58908165	58952935		Pongracz, E.  et al. 2002	12122980				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Europe|Hungary	CDC GDPinfo	1636	Hs.298469			Ideggyogy Sz. 2002 Mar;55(4-Mar):111-7	[Genetics of blood coagulation in young stroke patients]		106180	16687	2	2002	 Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.	Control:173 healthy blood donors;Case:253 patients with stroke		MTHFR		prothrombin	G20210A variant	GP	IIb/IIIa	Y		stroke
115361	Y	atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Ortlepp, J. rR.  et al. 2001	11696688				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Coronary artery disease. 2001 Sep;12(6):493-7	A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts		106180	15831	2	2001	 The CMA allele G is a genetic risk factor for atherosclerosis in venous coronary artery bypass grafts. Its importance has to be shown in further studies. Other polymorphisms of the renin-angiotensin-aldosterone system do not seem to play a role in bypass degeneration.	Cohort 101 patients who had follow-up coronary angiography due to symptoms 88 +/- 52 months after coronary artery bypass graft surgery 										
115362	N	hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		He, H.  et al. 2004	15555355				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua liu xing bing xue za zhi. 2004 Sep;25(9):756-60	[Association between angiotensin converting enzyme gene, chymase gene and regression of left ventricular hypertrophy in patients treated with angiotensin converting enzyme inhibitors.]		106180	15832	2	2004	 Hypertensive patients with DD genotype were more likely to have regression of left ventricular hypertrophy when treated with ACE inhibitors than patients with other ACE genotypes. No evidence was found to support an association between CMA genotype and regression of LVH in those patients.	Cohort 157 patients with essential hypertension and left ventricular hypertrophy 										
115359	Y	athletic performance	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935		Williams, A. G.  et al. 2003	14607851				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of applied physiology (Bethesda, Md :  1985). 2004 Mar;96(3):938-42	Bradykinin receptor gene variant and human physical performance.		106180	15418	2	2003	These data suggest that common genetic variation in the B2R is associated with efficiency of skeletal muscle contraction and with distance event of elite track athletes and that at least part of the associations of ACE and fitness phenotypes is through elevation of kinin activity.	Control:115 healthy men and women;Case:81 Olympic standard track athletes		ACE	I/D	B(2)R	1			Y		human atheletic performance
115360		longevity	AGING	AGE		17	17q23	ACE	58908165	58952935		Xia, Y.  et al. 2003	12889841				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	French		CDC GDPinfo	1636	Hs.298469			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		106180	15605	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
115356	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Sass, C.  et al. 2004	15076187				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		106180	15267	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
115357		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Crews, D. E.  et al. 2004	15252864				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			American journal of physical anthropology. 2004 Aug;124(4):364-72	Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE):associations with lipids, and apolipoprotein levels in American Samoans.		106180	15317	2	2004	The interaction term between ACE and APO E was also significantly associated with total-c and APO E levels, and the ACE genotype showed a significant main effect on APO AI levels in multivariate analyses.	Cohort 274 American Samoans 		ACE	I/D	APO	AII	APO	A-IV	Y		Lipids and apolipoprotein levels in American Samoans
115358		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Radha, V.  et al. 2002	12090088				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		106180	15322	2	2002	Review article											
115353		heart muscle disease, alcoholic	CARDIOVASCULAR	CARD	Heart Diseases|Alcoholism|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kajander, O. A.  et al. 2001	11696658				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1409-13	Testing genetic susceptibility loci for alcoholic heart muscle disease		106180	15035	2	2001	 The gene polymorphisms selected for and analyzed in our study are unlikely to modify the effects of alcohol on the heart. Other unknown factors determine the individual susceptibility to alcoholic heart muscle disease.	Cohort 700 middle-aged male victims of sudden death who underwent a medicolegal autopsy 	alcohol									
115354		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Liljedahl, U.  et al. 2003	12544508				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		106180	15098	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115350		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	17	17q23	ACE	58908165	58952935		Zee, R. Y.  et al. 2002	12082592				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		106180	15027	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
115351		intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis	17	17q23	ACE	58908165	58952935		Balkestein, E. J.  et al. 2002	12172317				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian	Belgium	CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2002 Aug;20(8):1551-61	Carotid and femoral intima-media thickness in relation to three candidate genes in a Caucasian population.		106180	15028	2	2002	This study shows that a relationship exists between the intima-media thickness of the large muscular femoral artery and the ACE gene. This relationship is only apparent in the presence of either the alpha-adducin 460Trp or the aldosterone synthase -344T allele. These findings may have clinical implications for the assessment of genetic cardiovascular risk.	Cohort 380 subjects enrolled in a population study 										
115352		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935			16314886				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The pharmacogenomics journal. 2006 Jan-Feb;6(1):22-6	Interactions between five candidate genes and antihypertensive drug therapy on blood pressure		106180	15029	2	2005			antihypertensive									
115348	Y	creatinine; protein excretion, urinary	METABOLIC	MET	Proteinuria|Hypertension	17	17q23	ACE	58908165	58952935		Wang, J. G.  et al. 2001	11728946				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			American journal of kidney diseases. 2001 Dec;38(6):1158-68	Renal function in relation to three candidate genes		106180	15024	2	2001	Thus, in the present cross-sectional analysis, renal function was slightly but consistently impaired when both the ACE D and alpha-adducin Trp alleles were present. These findings, together with experimental studies and our previous reports on femoral intima media thickness and the incidence of hypertension, constitute a growing body of evidence delineating a clinical entity genetically determined by the risk-carrying ACE D and alpha-adducin Trp alleles.	Cohort 1454 participants drawn at random from the population (64.3% of those invited), aged 43.4 years and included 744 women (51.2%) 										
115349		renal disease, end stage	UNKNOWN	UNK	Kidney Failure, Chronic|Disease Progression	17	17q23	ACE	58908165	58952935		Nicod, J.  et al. 2002	11918733				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kidney international. 2002 Apr;61(4):1270-5	Role of the alpha-adducin genotype on renal disease progression.		106180	15025	2	2002	 The ADD genotype is predictive of the course of renal function loss in an unselected renal population and influences the effect of the ACE genotype to modulate the rate of progression to ESRD. Thus, the ADD genotype may play a role for the understanding of interindividual differences in the course of renal diseases.											
115346	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Staessen, J. A.  et al. 2001	11518842				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2001 Aug;19(8):1349-58	Effects of three candidate genes on prevalence and incidence of hypertension in a Caucasian population.		106180	15022	2	2001	 Epistatic interactions between the ACE, ADD and AS genes contribute to the prevalence and incidence of hypertension in Caucasians. The clinical relevance of the risk-conferring haplotypes identified in our prospective study was underscored by their positive predictive values, which under the assumption of a 20% life-time risk of hypertension, ranged from 29.8-40.1%.	Cohort 1461 subjects randomly selected from a Caucasian population 										
115347	Y	carotid and femoral artery stiffness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q23	ACE	58908165	58952935		Balkestein, E. J.  et al. 2001	11711521				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2001 Nov;38(5):1190-7	Carotid and femoral artery stiffness in relation to three candidate genes in a white population.		106180	15023	2	2001	These data show that functional large artery properties are influenced by the ACE I/D polymorphism. Cross-sectional compliance and distensibility coefficients are influenced by the ACE I/D genotype, but this influence depends on the vascular territory and genetic background.	Cohort 756 subjects enrolled in a population study 		ACE	DD	ADD1	Gly460Trp			Y		Carotid and femoral artery stiffness in cardiovascular disease
115343		nephropathy, diabetic; blood pressure, arterial; proteinuria	RENAL	REN	Kidney Diseases|Glomerulonephritis|Proteinuria|Chronic Disease	17	17q23	ACE	58908165	58952935		Coto, E.  et al. 2005	16231503				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Nefrologia. 2005 ;25(4):381-6	[Pharmacogenetics of angiotensin system in non diabetic nephropathy]		106180	14992	2	2005	 Our data show that the effects of losartan and amlodipine on the absolute mean reduction of blood pressure and proteinuria in non-diabetic nephropathy patients are similar between the different ACE or AGT genotypes. Although based on a small number of patients, the AGTR1-AA genotype was associated with a significantly higher reduction in diastolic blood pressure among losartan-treated patients. Additional studies are necessary to refute or confirm this association.		amlodipine losartan									
115345		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	17	17q23	ACE	58908165	58952935		Tiago, A. D.  et al. 2001	11447495				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	South African	South Africa	CDC GDPinfo	1636	Hs.298469			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		106180	15021	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
115340	Y	polydipsia	OTHER	OTH	Hyponatremia|Schizophrenia	17	17q23	ACE	58908165	58952935		Meerabux, J.  et al. 2005	15978554				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Biological psychiatry. 2005 Sep;58(5):401-7	Association of an orexin 1 receptor 408Val variant with polydipsia-hyponatremia in schizophrenic subjects.		106180	14989	2	2005	 Our preliminary data suggest that mutation carriers might have an increased susceptibility to polydipsia through an undetermined mechanism.											
115341		hypertension; nephrotic syndrome	CARDIOVASCULAR	CARD	Glomerulonephritis|Chronic Disease	17	17q23	ACE	58908165	58952935		Kamyshova, E. S.  et al. 2005	16078594				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ter Arkh. 2005 ;77(6):16-20	[The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis]		106180	14990	2	2005	 There is association of polymorphic markers I/D of ACE gene, C(-344)T of gene CYP11B2 and 4a/4b of gene NOS3 with clinical features of CGN. Carriers of alleles associated with high activity of PAAC--allele D of gene ACE, allele C of gene CYP11B2 and allele 4a of gene NOS3--had more severe clinical picture at all stages of the disease.											
115342		nephropathy, congenital obstructive	RENAL	REN	Multicystic Dysplastic Kidney|Hydronephrosis|Ureteral Obstruction	17	17q23	ACE	58908165	58952935		Hahn, H.  et al. 2005	16133060				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pediatric nephrology (Berlin, Germany). 2005 Nov;20(11):1541-4	Implication of genetic variations in congenital obstructive nephropathy.		106180	14991	2	2005												
115337		atherosclerosis, coronary; hypertension; Fabry's disease	CARDIOVASCULAR	CARD	Fabry Disease|Coronary Disease|Hypertension	17	17q23	ACE	58908165	58952935		Heltianu, C.  et al. 2005	15784171				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of cellular and molecular medicine. 2005 Jan-Mar;9(1):135-42	Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction.		106180	14986	2	2005		Case:108/109/37 patients with coronary heart disease (n=108), hypertension (n=109), Fabry's disease (n=37);Control:141 healthy subjects										
115339		lymphoma	CANCER	CAN		17	17q23	ACE	58908165	58952935		Vasku, V.  et al. 2004	15818445				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Acta dermatovenerologica Alpina, Panonica, et Adriatica. 2004 Dec;13(4):111-6, 118	Association of variants in angiotensin-converting enzyme and endothelin-1 genes with phototherapy in cutaneous T-cell lymphoma.		106180	14988	2	2004	Some polymorphic variants in ACE and EDN1 genes (a heterozygote ID in I/D ACE, a homozygote -4A-4A in -3A /-4A EDN1 and genotypes GA and GG in G8002A EDN1) seem to carry an advantage for phototherapy effectiveness in patients with CTCL.	Control:203 non-cutaneous T-cell lymphoma group of the similar age and gender distribution;Case:77 patients with cutaneous T-cell lymphoma, diagnosed and treated at the First Dermatological Clinic of St. Ann's Faculty Hospital Brno (46 men and 31 women, median age 62, range 26-80 years)										
115335	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Szolnoki, Z.  et al. 2005	15595935				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Acta neurologica Scandinavica. 2005 Jan;111(1):29-33	Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke.		106180	14984	2	2005	 The eNOS G894T or eNOS 894TT genotypes in combination with the MTHFR 677TT or ACE D/D genotype increases the risk of ischaemic stroke.	Control:295 stoke and neuroimaging alteration-free Caucasian:subjects;Case:407 consecutive patients with acute ischaemic stroke who had never suffered a previous stroke event		NOS3	G894T or 894TT	MTHFR	677TT	ACE	D/D	Y		ischaemic stroke
115336	N	left ventricular hypertrophy; blood flow; left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Minushkina, L. O.  et al. 2005	15699938				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kardiologiia. 2005 ;45(1):41-50	[Angiotensin Converting Enzyme, NO-Synthase, and Endothelin-1 Genes and Left Ventricular Hypertrophy in Natives of Yakutia With Hypertensive Disease.]		106180	14985	2	2005	Polymorphic marker G7831A of ACE gene was not associated with severity of hypertrophy of left ventricular myocardium as well as with state of systolic and diastolic left ventricular function. Patients with allele Asn of EDN1 gene in the genotype had significantly lower value of peak A integral of transmitral blood flow. Patients with allele 4a of NOS3 gene had thicker left ventricular walls, greater left ventricular myocardial mass and mass index.	Cohort 70 natives of Yakutia with hypertension (31 men and 39 women) Yakutia 										
115333	Y	congenital anomalies; renal disease	DEVELOPMENTAL	DEV	Urologic Diseases|Kidney Diseases|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Rigoli, L.  et al. 2004	15470205				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Italian	Italy	CDC GDPinfo	1636	Hs.298469			Pediatric research. 2004 Dec;56(6):988-93	Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies.		106180	14982	2	2004	Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.	Case:102 children with congenital anomalies of the kidney and urinary tract:Italy;Control:92 healthy control subjects										
115334	N	nephropathy	RENAL	REN	Glomerulonephritis|Chronic Disease|Disease Progression	17	17q23	ACE	58908165	58952935			15532370				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ter Arkh. 2004 ;76(9):16-20	[Association of the complex of polymorphic markers of ACE genes, aldosteron synthetase and endothelial synthetase of nitric oxide with progression of chronic glomerulonephritis]		106180	14983	2	2004	 No association was detected between polymorphic markers of genes ACE, CYP11B2 and NOS3 and onset of CGN. Carriage of D+C+4a allele combination is an independent factor of risk for fast progression of chronic renal failure.	Case:117 chronic glomerulonephritis patients;Control:80 controls free of renal diseases and arterial:hypertension										
115330	Y	diabetes, type 2	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Guangda, X.  et al. 2004	15300633				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):355-9	[Angiotensin-converting enzyme gene and the brachial artery endothelial dysfunction in type 2 diabetes without angiopathy]		106180	14979	2	2004	 ACE DD genotype is related to endothelium-dependent arterial dilation in the early stage of type 2 diabetes mellitus and in healthy individuals.	Case:110 type 2 diabetic patients without angiopathy;Control:50 healthy individuals										
115331		arterial disease	CARDIOVASCULAR	CARD	Retinal Artery Occlusion|Hypertension, Renovascular|Arteriosclerosis	17	17q23	ACE	58908165	58952935		Van Onna, M.  et al. 2004	15326089				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2004 Oct;44(4):448-53	Genetic risk of atherosclerotic renal artery disease: the candidate gene approach in a renalangiography cohort.		106180	14980	2	2004	We hypothesize that the Asp allele of the Glu298Asp polymorphism may predispose to the development of atherosclerotic lesions but that renal artery involvement depends on other factors, also.	Control:200/154 nondiseased normotensive (n=200) and hypertensive (n=154) patients from a family practice;Case:456 consecutive hypertensive patients referred for renal angiography on the suspicion of renovascular:hypertension										
115327		nephropathy	RENAL	REN	Glomerulonephritis|Hypertension	17	17q23	ACE	58908165	58952935		Oko, A.  et al. 2003	14974362				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Polski merkuriusz lekarski. 2003 Oct;15(88):344-6	[Arterial hypertension in glomerulonephritis]		106180	14976	2	2003	These results indicate that hypertension is often present in early stage of GN, particularly in patients with nephrotic syndrome and depends on the morphological type of glomerular disease. Further studies are needed for verification of the role of ACE gene polymorphism in the predisposition to development of GN and associated arterial hypertension.	Control:100 healthy subjects;Case:74 patients with early stage glomerulonephritis										
115328		graft-versus-host disease	IMMUNE	IMM	Kidney Neoplasms	17	17q23	ACE	58908165	58952935		Akcay, A.  et al. 2004	15013293				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation proceedings. 2004 Jan-Feb;36(1):35-7	Angiotensin-converting enzyme genotype is a predictive factor in the peak panel-reactive antibody response.		106180	14977	2	2004	This study suggests that genetic control of RAS activity correlates with production of anti-HLA antibodies, possibly explaining the relationship to chronic allograft outcome.	Cohort 133 dialysis patients 										
115329		asthma; endothelium dependent dilatation	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935		Yildiz, P.  et al. 2004	15115168				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The Journal of asthma. 2004 Apr;41(2):159-66	Endothelial dysfunction in patients with asthma:the role of polymorphisms of ACE and endothelial NOS genes.		106180	14978	2	2004	 Patients with asthma have decreased vasodilatatory response to shear stress (EDD). Decreased EDD is correlated with the severity of asthma, but not with the distribution of ACE and eNOS genotypes.	Case:49;Control:49 age- and sex-matched healthy controls (20 male, 29										
115325		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	17	17q23	ACE	58908165	58952935		Eisenhardt, A.  et al. 2003	12825146				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Herz. 2003 Jun;28(4):304-13	Genetic risk factors for erectile dysfunction and genetic determinants of drug response--on the way to improve drug safety?		106180	14974	2	2003	Considering cardiovascular side effects under sildenafil treatment, it would be interesting to determine if genetic factors have an impact on the side effect profile of this drug.	Cohort erectile dysfunction patients 	sildenafil									
115326		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Tiago, A. D.  et al. 2003	14643573				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		South Africa	CDC GDPinfo	1636	Hs.298469			American journal of hypertension. 2003 Dec;16(12):1006-10	Impact of renin-angiotensin-aldosterone system gene variants on the severity of hypertension in patients with newly diagnosed hypertension.		106180	14975	2	2003	 A variant within the CYP11B2 locus has a clinically important impact on the severity of SBP changes in individuals with newly diagnosed hypertension who are of African ethnicity.	Cohort 231 newly diagnosed hypertensive patients of African ancestry who had never received hypertension treatment 										
115322	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Porto, P. I.  et al. 2003	12611423				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical and experimental hypertension (New York, NY :  1993). 2003 Feb;25(2):117-30	Renin-angiotensin-aldosterone system loci and multilocus interactions in young-onset essential hypertension.		106180	14971	2	2003	 In addition to the angiotensin-converting enzyme (ACE) and angiotensinogen (AGT) gene variants, gene-gene interactions may be important causative factors in a complex disease such as young-onset essential hypertension.	Control:121 age-matched normotensives, recruited from a high-school student population of 934 interviewed:individuals;Case:54 adolescents with hypertension, recruited from a high-school student population of 934 interviewed:individuals		ACE	D	AGT	235T			Y		young-onset essential hypertension
115323		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Warpeha, K. M.  et al. 2003	12724690				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		106180	14972	2	2003	Review article											
115324		hypertension	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Romano-Spica, V.  et al. 2003	12800945				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			European journal of epidemiology. 2003 ;18(3):211-9	Epidemiology of essential hypertension: the role ofgenetic polymorphism.		106180	14973	2	2003	Genetic data and methods are contributing more and more to epidemiological studies of complex diseases, and their application is influenced by information availability and Genome Project results.	Control:300 healthy unrelated subjects;Case:90 essential hypertensives										
115319	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	17	17q23	ACE	58908165	58952935		Zuliani, G.  et al. 2002	12196500				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The journals of gerontology Series A, Biological sciences and medical sciences. 2002 Sep;57(9):M611-5	Genetic Factors Associated With the Absence of Atherosclerosis in Octogenarians		106180	14968	2	2002	 The low prevalence of the PON 192 B allele in the VaSA subjects suggests that this polymorphism might have an important role in VaSA, probably by hydrolyzing lipid peroxides and thus preventing low-density lipoprotein from undergoing the oxidative modification. This finding further supports the oxidative hypothesis of ATS.	Control:161 controls with a negative history for cardiovascular:disease;Case:30/30 subjects with moderate carotid atherosclerosis (n=30) and subjects with vascular successful aging:(n=30)										
115321	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	17	17q23	ACE	58908165	58952935		Bai, H.  et al. 2002	12575194				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Hua xi yi ke da xue xue bao. 2002 Apr;33(2):233-7	[Angiotensinogen and angiotensin-I converting enzyme gene variations in Chinese pregnancy induced hypertension]		106180	14970	2	2002	 There was no evidence in this study for the association of AGT M235T and ACE I/D polymorphism with pre-eclampsia in Chinese population in Chengdu area.	Control:205 normal pregnant women from a population of Chinese Han nationality;Case:81 women with pre-eclampsia from a population of Chinese Han nationality:Chengdu, China										
115317	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	17	17q23	ACE	58908165	58952935		Tiago, A. D.  et al. 2002	12031704				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Cardiovascular research. 2002 Jun;54(3):584-9	An aldosterone synthase gene variant is associated with improvement in left ventricular ejection fraction in dilated cardiomyopathy.		106180	14966	2	2002	 A CYP11B2 gene variant predicts the variable improvement in LV ejection fraction that occurs subsequent to initiating medical therapy in IDC. These data suggest a role for the aldosterone synthase locus in regulating the progression of heart failure.	Case:107 patients with dilated cadiomyopathy	ACE inhibitor digoxin furosemide									
115318	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Disease Progression	17	17q23	ACE	58908165	58952935		Cosmo, S. D.  et al. 2002	12147786				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Nephrology, dialysis, transplantation. 2002 Aug;17(8):1402-7	The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidencefor a polygenic control of kidney disease progression.		106180	14967	2	2002	 Our data suggest that, in type 1 diabetic patients, the ACE and the PC-1 genes interact in increasing the individual risk of having a faster DN progression.	Cohort 159/122 type 1 diabetic patients either with (n=159) or without (n=122) nephropathy 		ACE		PC-123				Y		type 123 diabetic
115314		glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Buraczynska, M.  et al. 2001	11865575				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Polish		CDC GDPinfo	1636	Hs.298469			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106180	14963	2	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
115315		restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Diabetes Complications	17	17q23	ACE	58908165	58952935		Roguin, A.  et al. 2002	11909563				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The American journal of cardiology. 2002 Apr;89(7):806-10	Haptoglobin phenotype and the risk of restenosis after coronary artery stent implantation.		106180	14964	2	2002	Thus, knowledge of the haptoglobin phenotype may be useful in assessing and utilizing new therapies that attempt to reduce restenosis, and may have important implications for the risk stratification algorithm used in managing diabetic patients with coronary artery disease.	Cohort 214 consecutive patients undergoing stent implantation for de novo lesions Aalst, Belgium 1998-1999 										
115312	Y	esophageal varices	OTHER	OTH	Esophageal and Gastric Varices|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Coto, E.  et al. 2001	11707686				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of cardiovascular pharmacology. 2001 Dec;38(6):833-9	Variation at the Angiotensin-converting enzyme and endothelial nitric oxide synthase genes is associated with the risk of esophageal varices among patients with alcoholic cirrhosis		106180	14961	2	2001	The genotypes associated with an increased risk for varices have been linked to higher plasma levels of nitric oxide and reduced levels of ACE. These genotypes could have a vasodilatory effect in the systemic and splanchnic circulation, thus favoring the development of portocollaterals.	Case:145 male patients with liver cirrhosis;Control:200 healthy controls										
115313	Y	diabetes, type 2; polymetabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	17	17q23	ACE	58908165	58952935		Miloserdova OV et al. 2001	11761617				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Moscow	CDC GDPinfo	1636	Hs.298469			Genetika. 2001 Oct;37(10):1396-401	[Analysis of polymorphic variants of renin-angiotensin system genes in polymetabolic syndrome and non-insulin-dependent diabetes]		106180	14962	2	2001	The insertional (I) allele and genotype II of the ACE gene proved to be associated with PMS. A significant difference in allele and genotype frequency distributions of the (CA)n microsatellite of the 3'-untranslated exon of the angiotensinogen gene was revealed between randomly sampled individuals and patients with PMS and IDDM from the Moscow population.											
115310		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kankova, K.  et al. 2001	11399938				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ophthalmologica. 2001 Jul-Aug;215(4):294-8	Duration of non-Insulin-dependent diabetes mellitus and the TNF-beta NcoI genotype as predictive factors in proliferative diabetic retinopathy.		106180	14959	2	2001	Our results identified the allele variant TNF-beta(2) being associated with PDR in NIDDM. Diabetes duration and the TNF-beta NcoI genotype were proven to significantly predict PDR occurrence. The TNF-beta(2) allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.	Case non-PDR NIDDM subjects;Control:176 nondiabetic subjects;Case:246 Caucasian non-insulin-dependent diabetes mellitus (NIDDM) subjects with defined proliferative diabetic retinopathy status (PDR)										
115311	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Alvarez, R.  et al. 2001	11485372				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Spain	CDC GDPinfo	1636	Hs.298469			Nitric oxide. 2001 Aug;5(4):343-8	Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA Genotypes and Early Coronary Artery Disease		106180	14960	2	2001	Although based on a limited number of patients, our work suggests that individuals who are NOS3-CC + ACE-DD are at a higher risk for early CAD, probably as a consequence of increased endothelial dysfunction.	Case:170 male smokers with coronary artery disease younger than 50 years;Control:300 healthy male smokers										
115307	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Proteinuria|Disease Progression	17	17q23	ACE	58908165	58952935		Suzuki, H.  et al. 2004	15481848	4G/5G			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		CDC GDPinfo	1636	Hs.298469			Clinical nephrology. 2004 Sep;62(3):173-9	Close relationship of plasminogen activator inhibitor-1 4G/5G polymorphism and progression of IgA nephropathy		106180	13688	2	2004	 PAI-1 polymorphism is not associated with genesis of IgA nephropathy, but may be a risk factor for the progression of IgA nephropathy in Japanese.	Case:202 biopsy-proven IgAN patients, including 117 untreated IgAN patients who had an annual health:check;Control:270 healthy volunteers										
115309		hypertension; dyslipidemia	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Hyperlipidemias	17	17q23	ACE	58908165	58952935		Jastrzebska, M.  et al. 2005	16130596	4G/5G			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Poland	CDC GDPinfo	1636	Hs.298469			Pol Arch Med Wewn. 2005 Jan;113(1):20-Jul	[Plasminogen activator inhibitor-1 (PAI-1) 4G/5G and angiotensin converting enzyme (ACE) I/D gene polymorphisms and fibrinolytic activity in patients with essential hypertension and dyslipidemia]		106180	13708	2	2005												
115305		myocardial infarct; kidney disease	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Aucella, F.  et al. 2003	12748347	4G/5G			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Italy	CDC GDPinfo	1636	Hs.298469			Nephrology, dialysis, transplantation. 2003 Jun;18(6):1142-6	PAI-1 4G/5G and ACE I/D gene polymorphisms and the occurrence of myocardial infarction in patients on intermittent dialysis.		106180	13655	2	2003	 In end-stage renal disease, PAI-1 4G/5G gene polymorphism may have a significant role in the occurrence of fatal and non-fatal MI.	Control:1,307 control individuals;Case:461 all patients undergoing intermittent dialysis in an Italian district										
115306	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Buchholz, T.  et al. 2003	14585904				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Human reproduction (Oxford, England). 2003 Nov;18(11):2473-7	Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages.		106180	13665	2	2003	 Based on these results, we recommend the incorporation of these two polymorphisms into the spectrum of thrombophilic mutations which should be analysed in individuals with recurrent spontaneous miscarriages. Patients homozygous for both the ACE D and PAI-1 4G alleles may benefit from the application of low molecular weight heparin as early as possible in the pregnancy in order to prevent uteroplacental microthromboses.	Control:127 patients with uneventful term deliveries and no history of miscarriages;Case:184 patients with a history of two or more consecutive unexplained spontaneous miscarriages										
115303		PAI-1 levels	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Moore, J. H.  et al. 2002	12123491				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical genetics. 2002 Jul;62(1):74-9	A comparison of combinatorial partitioning and linear regression for the detection of epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms on plasma PAI-1 levels		106180	13638	2	2002	The results of this exploratory data analysis support previous experimental, clinical, and epidemiological studies that have proposed as a working hypothesis that the ACE gene mediates interaction effects of the fibrinolytic and renin-angiotensin systems on plasma levels of PAI-1.	Cohort 50/117 unrelated African Americans (n=50) and unrelated Caucasians (n=117) 		ACE	I/D	PAI-1	4G/5G			Y		plasma levels of PAI-1
115304	N	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Globocnik-Petrovic, M.  et al. 2003	12660488				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ophthalmologica. 2003 May-Jun;217(3):219-24	Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes.		106180	13651	2	2003	Neither the 4G/5G PAI-1 gene polymorphism nor the I/D ACE gene polymorphism contributed to the genetic susceptibility to diabetic retinopathy, either non-proliferative, proliferative or severe proliferative diabetic retinopathy, i.e. visual acuity of 0.1 or less in the better eye, in a group of Caucasian subjects with type 2 diabetes.	Case:124 subjects with type 2 diabetes and diabetic:retinopathy;Control:80 idabetic subjects without retinopathy with diabetes of a duration of more than 10 years										
115301		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	17	17q23	ACE	58908165	58952935		Hashizume, K.  et al. 2005	15914614				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	CDC GDPinfo	1636	Hs.298469			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		106180	13480	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
115302	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	17	17q23	ACE	58908165	58952935		Viitanen, L.  et al. 2001	11427204			promoter	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Finland	CDC GDPinfo	1636	Hs.298469			Atherosclerosis. 2001 Jul;157(1):57-64	Association of angiotensin converting enzyme and plasminogen activator inhibitor-1 promoter gene polymorphisms with features of the insulin resistance syndrome in patients with premature coronary heart disease.		106180	13621	2	2001	In conclusion, the ACE and PAI-1 gene polymorphisms are not linked with early-onset CHD. However, the ACE gene polymorphism is associated with features of the insulin resistance syndrome.	Control:110 healthy controls;Case:118 families with premature and severe coronary heart:disease										
115299		intima-media thickness	CARDIOVASCULAR	CARD	Helicobacter Infections|Cerebrovascular Accident|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	17	17q23	ACE	58908165	58952935		Markus, H.  et al. 2001	11692002				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	UK African Caribbean	Africa|Caribbean Region|Great Britain	CDC GDPinfo	1636	Hs.298469			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2465-71	Increased common carotid intima-media thickness in UK African Caribbeans and its relation to chronic inflammation and vascular candidate gene polymorphisms		106180	13259	2	2001	 Carotid IMT is increased in UK African Caribbeans even after controlling for conventional risk factors. There are highly significant ethnic differences in the distribution of many potential cerebrovascular candidate genes. Although those we examined did not explain the ethnic differences in IMT, other genetic predispositions or environmental exposures could account for these differences.	Cohort 291 men (202 Caucasian and 89 African Caribbean) Britain 										
115300	N	glaucoma; glaucoma, primary open-angle	VISION	VIS		17	17q23	ACE	58908165	58952935		Rupert, J. L.  et al. 2003	12556231				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Indian		CDC GDPinfo	1636	Hs.298469			Annals of human genetics. 2003 Jan;67(Pt 1):17-25	Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations.		106180	13478	2	2003	There was no evidence for an over-representation of the RAS alleles associated with cardiovascular fitness in the high-altitude Amerindian population when compared to the lowland Amerindian population.	Cohort a high-altitude native Andean population and a lowland Amerindian population, Maya Zuechua and Yucatan peninsula, Peru 										
115296		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Recurrence	17	17q23	ACE	58908165	58952935		Bray, P. F.  et al. 2001	11545752				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			The American journal of cardiology. 2001 Aug;88(4)	The platelet Pl(A2) and angiotensin-converting enzyme (ACE) D allele polymorphisms and the risk of recurrent events after acute myocardial infarction.		106180	12033	2	2001	These data suggest that it would be important to perform a larger study to address the potential role of these genotypes in therapeutic decision making.	Cohort 4159 men and women with documented myocardial infarction (MI) were randomized to receive either placebo or pravastatin 	pravastatin									
115297		inflammatory bowel disease; colorectal cancer; ACE activity; coronary atherosclerosis	CANCER	CAN		17	17q23	ACE	58908165	58952935		Khitrinskaia Iiu  et al. 2001	11771311				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Genetika. 2001 Nov;37(11):1553-8	[Analysis of Alu-polymorphism in Buryat populations]		106180	13139	2	2001	Analysis of autosomal Alu insertions suggests the uniformity of the Buryat gene pool											
115294		asthma; lipids; memory impairment	IMMUNE	IMM		17	17q23	ACE	58908165	58952935		Hamdy, I.  et al. 2002	11956670				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			European journal of clinical pharmacology. 2002 Apr;58(1):29-36	Allele and genotype frequencies of polymorphic DCP1, CETP, ADRB2, and HTR2A in the Egyptian population.		106180	11427	2	2002	 We have explored the frequencies of important allelic variants DCP1, CETP, ADRB2, and HTR2A among the Egyptian population focusing on the ethnic diversity in the distribution of the tested mutant alleles. Our results may help in better understanding the observed ethnic variation in angiotensin-converting enzyme inhibition and atherosclerosis therapy. It also may contribute to better characterization of interethnic differences in isoprenaline and clozapine response, which will have implications for the cost effective and rational prescribing of these drugs.	Cohort 242 urelated individuals in the Egyptian population 										
115295	Y	longevity	CARDIOVASCULAR	CARD	Vascular Diseases	17	17q23	ACE	58908165	58952935		Hessner, M. J.  et al. 2001	11568114				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		106180	11980	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
115292		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	17	17q23	ACE	58908165	58952935		French, J. K.  et al. 2003	12514663				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		106180	10679	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
115293	N	muscle testing	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935		Thomis, M. A.  et al. 2004	15083369				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			European journal of applied physiology. 2004 Jul;92(3):267-74	Exploration of myostatin polymorphisms and the angiotensin-converting enzyme insertion/deletion genotype in responses of human muscle to strength training		106180	10808	2	2004	This study therefore does not support the hypothesis that an increased muscle fiber hypertrophic effect of strength training is present in D-allele carriers.	Cohort 57 males [22.4 (3.7) years] who participated in a 10-week, high-resistance training program for the elbow flexors 										
115290	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Chalmers, K. A.  et al. 2004	15106838			promoter	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Neuroreport. 2004 Jan;15(1):95-8	APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease		106180	10053	2	2004	Here we report that polymorphisms within the APOE promoter, ACE1 and CYP46 gene are not risk factors for AD and are not associated with parenchymal or vascular accumulation of Abeta.	Control:58:controls;Case:86 neuropathologically confirmed cases of Alzheimer's:disease										
115291		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	17	17q23	ACE	58908165	58952935		Ozbek, N.  et al. 2005	15831156				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		106180	10475	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
115288	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Nalogowska-Glo&sacute;nicka, K.  et al. 2000	11208365				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Poland	CDC GDPinfo	1636	Hs.298469			Medical science monitor. 2000 May-Jun;6(3):523-9	Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension		106180	9426	2	2000	 On the basis of the results of our study, we may suggest that AGTR1 gene A1166C polymorphism may predispose women to the development of PIH. It seems that ACE gene I/D and Pst1 RFLP polymorphism, AGT gene M235T polymorphism, and finally chymase gene CMA/B polymorphism do not play any significant role in the pathogenesis of PIH in Caucasian women.	Case:126 women suffering from PIH;Control:150 healthy pregnant women	pregnancy									
115289	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		He, H.  et al. 2005	15788353				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Annals of human biology. 2005 Jan-Feb;32(1):30-43	A study of the relationships between angiotensin- converting enzyme gene, chymase gene polymorphisms, pharmacological treatment with ACE inhibitor and regression of left ventricular hypertrophy in essential hypertension patients treated with benazepril.		106180	9429	2	2005	 Hypertension patients with the DD genotype are more likely to have regression of LVH when treated with benazepril than patients with other genotypes of ACE. No evidence was found to support an association between CMA genotype and regression of LVH in patients or to support the interaction between the two genes in regression of LVH.	Cohort 157 patients with hypertension 	benazapril	ACE	DD	CMA				N		regression of left ventricular hypertrophy in hypertension
115286	N	hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935			15112434				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Tsitologiia. 2004 ;46(1):69-78	[Impact of angiotensin-converting enzyme, angiotensinogen, endothelial NO synthase, and bradykinin receptor B2 gene polymorphisms on myocardium in patients with hypertension and in athletes]		106180	8881	2	2004	At the same time, the ACE and AND gene polymorphisms displayed no association with the cardiac structure and function.	Cohort 114/94 hypertensive patients (n=114) and athletes (n=94) 										
115287		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	17	17q23	ACE	58908165	58952935		Pallaud, C.  et al. 2001	11341749				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		France|Italy	CDC GDPinfo	1636	Hs.298469			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		106180	9019	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
115284	N	cough, angiotensin-converting enzyme; inhibitor-related	OTHER	OTH	Cough|Proteinuria|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lee, Y. J.  et al. 2001	11699055				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	Taiwan	CDC GDPinfo	1636	Hs.298469			Metabolism:  clinical and experimental. 2001 Nov;50(11):1346-50	Angiotensin-converting enzyme gene insertion/deletion, not bradykinin B2 receptor -58T/C gene polymorphism, associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus		106180	8874	2	2001	In conclusion, our results indicate that Chinese diabetic female subjects are susceptible to ACEI-related cough, and this susceptibility may be genetically predetermined.	Cohort 189 Chinese non-insulin-dependent diabetes mellitus (NIDDM) patients with proteinuria or hypertension treated with perindopril were studied. 										
115285	Y	cough	OTHER	OTH	Cough|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Mukae, S.  et al. 2002	12522467				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	CDC GDPinfo	1636	Hs.298469			Journal of human hypertension. 2002 Dec;16(12):857-63	Association of polymorphisms of the renin-angiotensin system and bradykinin B2 receptor with ACE-inhibitor-related cough		106180	8878	2	2002	In conclusion, Susceptibility to develop cough is associated with a genetic variant of the bradykinin B2 receptor promoter; thus, it may be possible to identify those patients who will develop this adverse reaction to ACE inhibitors in advance.	Control:120 Japanese hypertensive patients without cough;Case:70 Japanese hypertensive patients with cough										
115281		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Yu, Y.  et al. 2005	15773232				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical and experimental hypertension (New York, NY :  1993). 2005 Jan;27(1):83-94	Associations of baseline blood pressure levels and efficacy of Benazepril treatment with interaction of alpha-adducin and ACE gene polymorphisms in hypertensives.		106180	8420	2	2005	Our results suggested that the interaction effect of alpha-adducin Gly460Trp and ACE I/D polymorphisms might play a significant role in regulating baseline BP but not BP response to Benazepril.	Cohort 954 Chinses hypertensive patients Anhui province, China 	benazepril							N		
115282		Parkinson's disease	NEUROLOGICAL	NEUR		17	17q23	ACE	58908165	58952935		Nishio, K.  et al. 2004	15279067				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		106180	8430	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
115278	N	kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	17	17q23	ACE	58908165	58952935		Merta, M.  et al. 2003	12697976				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kidney & blood pressure research. 2003 ;26(1):42-9	Influence of the alpha-adducin and ACE gene polymorphism on the progression of autosomal-dominant polycystic kidney disease.		106180	8408	2	2003	 The ACE and alpha-adducin polymorphisms do not play a significant role in the progression of ADPKD to ESRF.	Control:200 genetically unrelated healthy Czech subjects;Case:320 autosomal dominant polycystic kidney disease patients, 220 pts (113 males, 107 females) with ESRF before 63 years of age										
115279	Y	nephropathy	RENAL	REN	Kidney Diseases|Glomerulonephritis, IGA|Disease Progression	17	17q23	ACE	58908165	58952935		Narita, I.  et al. 2003	12885793				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	CDC GDPinfo	1636	Hs.298469			Hypertension. 2003 Sep;42(3):304-9	Interaction between ACE and ADD1 gene polymorphisms in the progression of IgA nephropathy in Japanese patients.		106180	8409	2	2003	These findings suggest an interaction between ACE and ADD1 polymorphisms not only on blood pressure regulation but also on the progression of renal dysfunction in patients with IgAN.	Cohort 276 Japanese patients with histologically proven IgA nephropathy 		ACE	II	ADD1	460WW			Y		IgA nephropathy
115275	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Clark, C. J.  et al. 2000	11116113				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2000 Dec;36(6):990-4	alpha-adducin and angiotensin I-converting enzyme polymorphisms in essential hypertension		106180	8397	2	2000	no evidence was found to suggest an association between either the alpha-adducin G460W or the ACE I/D polymorphism and hypertension in a careful case-control study. Furthermore, the alpha-adducin G460W, ACE I/D, and aldosterone synthase SF-1 and IC polymorphisms do not appear to interact in our hypertensive population.	Control individually age- and gender-matched normotensive control subjects;Case:128 patients with essential hypertension										
115276	Y	alcoholism; renal disease, end stage	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q23	ACE	58908165	58952935		Connor, J. P.  et al. 2002	11918988				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Australia	CDC GDPinfo	1636	Hs.298469			European psychiatry. 2002 Mar;17(1):17-23	D(2) dopamine receptor (DRD2) polymorphism is associated with severity of alcohol dependence.		106180	8403	2	2002	In sum, alcohol-dependent patients with the DRD2 A(1) allele compared to patients without this allele are characterized by greater severity of their disorder across a range of problem drinking indices. The implications of these findings are discussed.	Cohort sample of Caucasian adults recruited from an alcohol detoxification unit ;Control:260 control subjects not otherwise specified in:abstract;Case:260 end stage renal disease patients										
115271		cardiomyopathy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic	17	17q23	ACE	58908165	58952935		Perkins, M. J.  et al. 2005	16087648				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			European heart journal. 2005 Nov;26(22):2457-62	Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.		106180	8365	2	2005	 This study demonstrates that RAAS genotypes may modify the clinical phenotype of HCM in a disease gene-specific fashion rather than indiscriminately.											
115272		cerebral white matter lesions	NEUROLOGICAL	NEUR	Brain Injuries|Hypertension|Diabetes Mellitus	17	17q23	ACE	58908165	58952935		Henskens, L. H.  et al. 2005	16109907				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1869-73	Associations of the angiotensin II type 1 receptor A1166C and the endothelial NO synthase G894T gene polymorphisms with silent subcortical white matter lesions in essential hypertension.		106180	8366	2	2005	 We found the AGTR1 A1166C as well as the NOS3 G894T polymorphisms to be associated with silent WMLs in the subcortical area.											
115273		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Liao, L.  et al. 2004	16134592				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhong nan da xue xue bao Yi xue ban. 2004 Aug;29(4):410-3	[Angiotensin converting enzyme gene polymorphism and type 2 diabetic retinopathy]		106180	8367	2	2004	 There is no association between ACE gene I/D polymorphism and the genesis and development of DR in Type 2 diabetic patients.											
115268		C-reactive protein	IMMUNE	IMM	Arteriosclerosis|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Wang, L.  et al. 2005	15958311				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Di yi jun yi da xue xue bao. 2005 Jun;25(6):691-5	[Association between angiotensin converting enzyme I/D polymorphism and high-sensitivity C-reactive protein in type 2 diabetic patients with atherosclerosis treated with ramipril]		106180	8362	2	2005	 After therapy, hsCRP level significantly decreased, but hsCRP levels showed no significant differences between the groups of different ACE genotypes.											
115269	Y	endurance performance	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935		Lucia, A.  et al. 2005	16037885				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			International journal of sports medicine. 2005 Jul-Aug;26(6):442-7	Is there an association between ACE and CKMM polymorphisms and cycling performance status during 3-week races?		106180	8363	2	2005	We conclude that  in top-level professional cyclists capable of completing a classic 3-wk tour race, the frequency distribution of the D allele and the DD genotype seems to be higher than in other endurance athletes such as elite runners (in whom the I allele is especially frequent).											
115265	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Mendonca, I.  et al. 2004	15732660				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Portuguese	Portugal	CDC GDPinfo	1636	Hs.298469			Revista portuguesa de cardiologia. 2004 Dec;23(12):1593-601	[Angiotensin converting enzyme gene polymorphisms and coronary risk in a Portuguese population]		106180	8359	2	2004	 This study clearly shows that the ACE DD polymorphism is strongly linked to CHD, and if our data are confirmed in a larger population sample, more aggressive vascular prevention could be justified in patients carrying the DD genotype.	Case:301 subjects with a history of myocardial infarction or angiographic evidence of coronary heart disease;Control:510 age- and gender-matched controls, without CHD, living in a region with high CHD mortality rates										
115266	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Liao, L.  et al. 2003	15804059				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Hunan yi ke da xue xue bao. 2003 Dec;28(6):553-6	[Angiotensin converting enzyme gene polymorphism and type 2 diabetic nephropathy]		106180	8360	2	2003	 The DD genotype of ACE gene may not be a clinically useful genetic marker for predicting the genesis and development of DN in Type 2 diabetic patients in Chinese. There is no association between ACE gene I/D polymorphism and the genesis and development of DN in Type 2 diabetic patients.	Cohort 66 Chinese type 2 diabetic patients with normal buminare 										
115267		cerebral infarct	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Cai, Q.  et al. 2002	15901553				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Yi chuan. 2002 Jan;24(1):8-Jun	[A study of insertion/delation polymorphism of the angiotensin-converting enzyme gene in pilots]		106180	8361	2	2002	It is suggested that I gene of ACE may play a role in perfomance of the pilots.	Case:118:pilots;Control:96 healthy subjects										
115262	Y	ACE activity	UNKNOWN	UNK		17	17q23	ACE	58908165	58952935		Kong, X. D.  et al. 2004	15651670				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Yi chuan xue bao. 2004 Nov;31(11):1196-202	[ACE gene polymorphisms associated with serum ACE activity in the Henan Hans of China]		106180	8356	2	2004	This findings suggested that serum ACE levels were partially determined by genetic predisposition (the polymorphism of ACE gene). Haplotype B may be related to the quantitative trait loci of high-level activity,whereas high-resolution genetic mapping linked with ACE was still necessary to characterize definitely the functional variants.	Cohort Henan Han individuals 										
115264		cardiological syndrome X	CARDIOVASCULAR	CARD	Microvascular Angina	17	17q23	ACE	58908165	58952935		Kolasinska-Kloch, W.  et al. 2004	15724677				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Przegl Lek. 2004 ;61(6):743-6	[Relations between endothelial nitric oxide synthase and angiotensin-converting gene polymorphisms and certain biochemical parameters in patients with cardiac syndrome X]		106180	8358	2	2004	We conclude that  disturbances in free fatty acid utilization, estimated by postprandial lipaemic test play important roles in the development of endothelial injury in CSX.	Control:30 healthy volunteers;Case:36 patients with cardiological syndrome X										
115260		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935			15612584				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Molekuliarnaia biologiia. 2004 Nov-Dec;38(6):990-6	[ACE and AGTR1 genes polymorphisms in left ventricular hypertrophy pathogenesis in humans]		106180	8354	2	2004	Thus the presence of 1166C allele of AGTR1 and 2350G allele of ACE can be considered as predisposing factors for LVH development in EH. In contrast, association of studied polymorphisms with presence or LVH degree was not detected in patients with arterial hypertension combined with DM2. This may indicate another structure of genetic component of predisposition to LVH in different causes.	Control healthy individuals;Case patients with essential hypertension (EH) and arterial hypertension combined with diabetes mellitus type 2 (AH + DM2)										
115261	Y	blood pressure, arterial; arterial wall changes	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Wojciechowska, W.  et al. 2004	15614025				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2004 Dec;22(12):2311-9	Association of peripheral and central arterial wave reflections with the CYP11B2 -344C allele and sodium excretion		106180	8355	2	2004	 The CYP11B2 C-344T polymorphism affects arterial stiffness. However, sodium intake seems to modulate this genetic effect.	Cohort 64 unrelated individuals randomly recruited from three European populations 										
115258		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Henderson, S. O.  et al. 2004	15545843				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	African American		CDC GDPinfo	1636	Hs.298469			The American journal of the medical sciences. 2004 Nov;328(5):266-73	Multiple Polymorphisms in the renin- angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort.		106180	8352	2	2004	 These data suggest that the (-535)T allele of AGTR1 and (-344)T allele of CYP11B2 may increase hypertension risk among African Americans but not among Latinos. Characterization of the linkage disequilibrium and haplotype patterns in the RAAS pathway genes will be crucial to understanding differences in hypertension susceptibility in these ethnic populations.	Cohort African American and Latino members of the Multiethnic Cohort Study 										
115259	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis	17	17q23	ACE	58908165	58952935		Berdeli, A.  et al. 2005	15563875				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Turkish	Turkey	CDC GDPinfo	1636	Hs.298469			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):87-94	Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population.		106180	8353	2	2005	 This study indicates a synergistic contribution of RAS genes (ACE I/D, AGT T/M, AT1R T/C) and eNOS Glu298Asp polymorphisms to the development of the premature CAD.	Case:115 Turkish patients with premature coronary artery:disease;Control:83:controls										
115256	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Ahsan, A.  et al. 2004	15498534				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical biochemistry. 2004 Nov;37(11):1037-40	ACE I allele and eNOS G allele crosstalk may have a role in chronic obstructive pulmonary disease		106180	8350	2	2004	 The lower ACE and higher NO levels by virtue of the interchromosomal interaction between the I and G alleles appear to cause less vasoconstriction and increase vasodilatation that may be advantageous in the improvement of the disease.	Case:27 chronic obstructive pulmonary disease patients, all of whom were smokers;Control:66 normal individuals, all of whom were smokers										
115257	N	sleep disorders; hypertension	UNKNOWN	UNK	Sleep Apnea, Obstructive|Myocardial Ischemia|Hypertension	17	17q23	ACE	58908165	58952935		Rubinsztajn, R.  et al. 2004	15526842				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pol Arch Med Wewn. 2004 Jul;112(1):817-22	[Angiotensin-converting enzyme gene polymorphism in patients with obstructive sleep apnea]		106180	8351	2	2004	 1. In the study group there was no association between ACE polymorphism and OSA. 2. There were also no association between the polymorphism of ACE and cardiac diseases or familial history of cardiac diseases in OSA group. 3. The polymorphism of ACE is not a risk factor for OSA.	Cohort 63 patients with obstructive sleep apnea 										
115254	Y	obesity; blood pressure, arterial; sleep apnea	METABOLIC	MET	Sleep Apnea, Obstructive|Obesity	17	17q23	ACE	58908165	58952935		Zhang, L. Q.  et al. 2004	15387996				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Zhonghua jie he he hu xi za zhi. 2004 Aug;27(8):507-10	[Association of polymorphisms in the angiotensin system genes with obstructive sleep apnea-hypopnea syndrome]		106180	8348	2	2004	 ACE polymorphism may not be correlated with central obesity and OSAHS in the population. AGT polymorphism may be involved in the development of central obesity and may be related to OSAHS and hypertension in OSAHS patients by the central obesity in male OSAHS subjects of North region Han population of China.	Control:110 non-obstructive sleep apnea-hypopnea syndrome:controls;Case:121 Chinese Han obstructive sleep apnea-hypopnea:syndrome:China										
115255		coronary artery thrombosis	CARDIOVASCULAR	CARD	Coronary Thrombosis	17	17q23	ACE	58908165	58952935		Zhu, T. N.  et al. 2004	15498133				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Oct;12(5):674-9	[Gene polymorphisms of rennin-Angiotensin system and coronary artery thrombosis disease.]		106180	8349	2	2004	Although these three polymorphisms were not independent risk factors for CATD or myocardial infarction (MI) in Chinese, AT1R-AC genotype has a significant synergistic effect with AGT-TT genotype. There is also a obvious interaction between AT1R-AC genotype and ACE D allele.	Control:110:controls;Case:192 coronary artery thrombosis disease cases										
115252	Y	lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Douglas, G.  et al. 2004	15338496				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian	North Carolina|South Carolina	CDC GDPinfo	1636	Hs.298469			The Journal of rheumatology. 2004 Sep;31(9):1756-62	Angiotensin-converting enzyme (insertion/deletion) and endothelial nitric oxide synthase polymorphisms in patients with systemic lupus erythematosus		106180	8346	2	2004	 eNOS genetic polymorphisms differed significantly across ethnic groups. There was no significant increased risk of SLE and/or lupus nephritis associated with eNOS or ACE polymorphisms in either the African American or Caucasian groups compared to ethnically matched controls. These studies emphasize the need to control for ethnicity when investigating genetic polymorphisms and disease.	Case:227 systemic lupus erythematosus patients;Control:275 sex matched controls										
115253	Y	kidney transplant	IMMUNE	IMM		17	17q23	ACE	58908165	58952935		Akcay, A.  et al. 2004	15385810				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation. 2004 Sep;78(6):892-8	Association of the genetic polymorphisms of the renin-angiotensin system and endothelial nitric oxide synthase with chronic renal transplant dysfunction.		106180	8347	2	2004	 These findings suggest that the DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD.	Cohort 125 patients who underwent renal transplantation during a 5-year period 										
115250		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Bennouar, N.  et al. 2004	15217762				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Annales de biologie clinique. 2004 May-Jun;62(3):295-304	[Apolipoprotein E and angiotensin-converting enzyme gene polymorphisms as risk factors of coronary disease]		106180	8344	2	2004	Thus, those two alleles (4 and D) appears to be important cardiovascular risk factors in the moroccan population.	Control:141 patients without stenosis or with non-significant stenosis (> 50% of the vascular lumen);Case:250 patients who underwent complete cardiac examination comprising coronary an-gioplasty and biological:analysis:Morocco										
115251		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Genetic Predisposition to Disease|Erectile Dysfunction	17	17q23	ACE	58908165	58952935		Rosas-Vargas, H.  et al. 2004	15292102				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Mexican	Mexico	CDC GDPinfo	1636	Hs.298469			Journal of andrology. 2004 Sep-Oct;25(5):728-32	Glu298Asp endothelial nitric oxide synthase polymorphism is a risk factor for erectile dysfunction in the Mexican Mestizo population.		106180	8345	2	2004	Therefore, our results suggest that Glu298Asp eNOS polymorphism plays a role as a genetic susceptibility factor for ED.	Case:53 Mexican patients with erectile dysfunction;Control:62 age-matched controls										
115248		cysclosporine toxicity	PHARMACOGENOMIC	PHARM		17	17q23	ACE	58908165	58952935		Ozdemir, F. N.  et al. 2004	15013322				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation proceedings. 2004 Jan-Feb;36(1):128-30	The renin-angiotensin system and endothelial nitric oxide synthase gene polymorphisms and cyclosporine toxicity in renal transplant patients.		106180	8342	2	2004	We could not find any relation between cyclosporine toxicity and gene polymorphisms (P >.05), although the mean mg/kg/d dose was significantly high among cyclosporine toxicity group (P =.028, RR = 1.42). In recent studies angiotensin II and nitric oxide have been suggested to be related to cyclosporine toxicity; however, our results failed to reveal an association between cyclosporine toxicity and angiotensin II or nitric oxide-related gene polymorphisms.	Cohort 111 renal transplant patients 										
115249	Y	posttransplantation erythrocytosis	OTHER	OTH	Polycythemia|Postoperative Complications	17	17q23	ACE	58908165	58952935		Micozkadioglu, H.  et al. 2004	15013333				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation proceedings. 2004 Jan-Feb;36(1):161-3	Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.		106180	8343	2	2004	While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.	Cohort 96 renal transplant patients 										
115246		nephropathy in other diseases	RENAL	REN	Glomerulonephritis, Membranous	17	17q23	ACE	58908165	58952935		Stratta, P.  et al. 2004	14767013				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Nephrology, dialysis, transplantation. 2004 Mar;19(3):587-95	Interaction between gene polymorphisms of nitric oxide synthase and renin-angiotensin system in the progression of membranous glomerulonephritis.		106180	8340	2	2004	 This study is the first to demonstrate a role for an interaction between simultaneous variations of genes encoding for NOS and components of RAS in the progression of MGN. Interactions between various polymorphisms may explain conflicting results obtained in previous studies that examined single gene variations, since the effect of a single locus variation may be influenced by the simultaneous presence of other variant alleles in polygenic diseases such as primary GN. However, the small sample sizes and possible multiple interactions limited the interpretation of the current findings, which may represent true biological interaction or simply statistical interactions or spurious results due to the small sample sizes.	Case:117 patients with serum creatinine (s-Cr) <1.5 mg/dl at renal biopsy and follow-up >/==" BORDER="0"> 5 years (Kaplan-Meier and Cox multivariate analysis);Control:171 organ donors										
115247		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Schmidt, M. A.  et al. 2003	14989558			DD	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Vascular medicine (London, England). 2003 ;8(3):177-83	Interactive effects of the ACE DD polymorphism with the NOS III homozygous G849T (Glu298-->Asp) variant in determining endothelial function in coronary artery disease.		106180	8341	2	2003	In conclusion, the homozygous NOS III variant (GG) status does not seem to interact additively with the ACE homozygous DD genotype in determining flow-mediated vasodilation in individuals with established atherosclerosis and pre-existent endothelial dysfunction.	Cohort 397 consecutive subjects presenting to the cardiac catheterization laboratory of the University of Michigan over a period of 18 months US 								N		
115244		cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction	17	17q23	ACE	58908165	58952935		Yuan, X. D.  et al. 2003	14521778				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua liu xing bing xue za zhi. 2003 Sep;24(9):822-6	[A cross-sectional study on angiotensin-converting enzyme and angiotensin II type I receptor gene polymorphism and cerebral infarction]		106180	8337	2	2003	 The prevalence of cerebral infarction obviously increased in the hypertensive groups having AA genotype of ATIR gene. In the cerebral infarction groups, the level of IL-6 was higher than that in the normal population, indicating that these can be resulted from local inflammation and immunity reactivity. Environmental and genetic factors in the pathogenesis of cerebral infarction might have coordinating functions.	Control controls from Tangshan coalmine;Case cerebral infarction individuals from 1,351subjects from Tangshan coalmine	blood pressure smoking (tobacco)									
115245		vesicoureteral reflux	UNKNOWN	UNK	Vesico-Ureteral Reflux	17	17q23	ACE	58908165	58952935		Yim, H. E.  et al. 2004	14764974				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Korean		CDC GDPinfo	1636	Hs.298469			American journal of nephrology. 2004 Mar-Apr;24(2):178-87	Genetic polymorphism of the renin-angiotensin system on the development of primary vesicoureteral reflux.		106180	8339	2	2004	 These findings indicate that a lower incidence of AT2 A-1332G transition is seen in primary VUR patients, at least in the Korean population. Also, in the case of combination of ACE and AT2 gene, the combination of ACE II genotype and AT2 A-1332G transition occurs infrequently in primary VUR.	Control:58 controls with no urological abnormalties;Case:67 primary vesicoureteral reflux patients										
115242		cholesterol; triglycerides; hypertension; blood pressure, arterial; potassium; urea	METABOLIC	MET	Hypertension	17	17q23	ACE	58908165	58952935		Box012D;tsov, S. A.  et al. 2003	12891302				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kardiologiia. 2003 ;43(7):65-9	[Characteristics of hemodynamics and metabolism and structural polymorphisms of angiotensin converting enzyme and angiotensin II type I receptors genes in women of childbearing]		106180	8335	2	2003	Presence of DD genotype of ACE gene in women was related to parameters of both hemodynamics and metabolism, whereas that of II genotype of ACE gene as well as AA and AC genotypes of ATR(1) gene were linked with parameters of hemodynamics.	Cohort women of childbearing age and men of the same age, both with first degree hypertension 										
115243		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Castellano, M.  et al. 2003	14508191				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Italian	Italy	CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2003 Oct;21(10):1853-60	Genetic polymorphism of the renin-angiotensin-aldosterone system and arterial hypertension in the Italian population: the GENIPERProject.		106180	8336	2	2003	 Our results suggest that some allelic variants of RAAS genes carry a small but identifiable risk of developing arterial hypertension.	Case:1850 hypertensive subjects:Italy;Control:611 normotensive subjects		AGT T/C704	C	AT1 A/C1166	A	ALDO T/C-344	T	Y		arterial hypertension
115240	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Disease Progression	17	17q23	ACE	58908165	58952935		Coll, E.  et al. 2003	12832734	A1166C		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of nephrology. 2003 May-Jun;16(3):357-64	Association between the A1166C polymorphism of the angiotensin II receptor type 1 and progression of chronic renal insufficiency.		106180	8333	2	2003	 These results indicate that susceptibility to faster progression to ESRD is associated with the AT1R A1166C polymorphism. This association remains significant after adjustment for relevant covariates, highlighting the importance of analyzing genetic risk factors in the context of clinical and biochemical variables.	Cohort 104 end-stage renal disease patients 										
115241		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	17	17q23	ACE	58908165	58952935		Eisenhardt, A.  et al. 2003	12837457			I/D	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Urology. 2003 Jul;62(1):152-7	ACE gene I/D and NOS3 G894T polymorphisms and response to sildenafil in men with erectile dysfunction.		106180	8334	2	2003	 It appears that patients with elevated ACE serum concentrations, as associated with the D allele of the ACE I/D polymorphism, are less likely to respond to sildenafil.	Control:108 healthy male blood donors;Case:113 men with erectile dysfunction	sildenafil									
115238	N	vesicoureteral reflux	UNKNOWN	UNK	Urinary Tract Infections|Vesico-Ureteral Reflux	17	17q23	ACE	58908165	58952935		Kowalewska-Pietrzak, M.  et al. 2003	12728665				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Polski merkuriusz lekarski. 2003 Feb;14(80):102-5	[ACE gene polymorphism and renal scarring in children with urinary tract infection and vesicoureteric reflux: preliminary results]		106180	8331	2	2003	It suggests that ACE gene polymorphism is not associated with primary VUR. Renal scarring was revealed in 7 out of 21 children and there was also no statistically significant difference in D/I distribution between scar (n = 7) and non-scar (n = 14) subgroups of patients and controls. However, higher incidence of D allele (64%) in children with renal parenchymal damage could suggest the hypothesis that this genetic factor plays an important role in renal scarring. Therefore, to verify this assumption further studies on a larger group of patients are needed.	Case children with vesicoureteric reflux;Control healthy Caucasians										
115239		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia	17	17q23	ACE	58908165	58952935		Skvortsova, V. I.  et al. 2001	12830537				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2001 ;(Suppl 3):21-7	[ACE gene polymorphism in patients with ischemic brain disease]		106180	8332	2	2001	We found that among patients with stenosis in both groups D/D genotype significantly predominated (p < 0.05).	Cohort 153 patients with cerebrovascular disease 										
115236		hypertension; cardiovascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935			12669427				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Kazakhstan	CDC GDPinfo	1636	Hs.298469			Genetika. 2003 Feb;39(2):293-9	[Polymorphism of the promotor region of the angiotensinogen gene and the gene for angiotensin I-converting enzyme in arterial hypertension and myocardial ischemia of the Kazakh ethnic groups]		106180	8329	2	2003	A comparative analysis of the distribution of genotype and allele frequencies was conducted.	Case Kazakh patients with cardiovascular disease and patients with arterial hypertension;Control:controls										
115237	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation	17	17q23	ACE	58908165	58952935		Gensini, F.  et al. 2003	12687832				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pacing and clinical electrophysiology. 2003 Jan;26(1  Pt 2):295-8	Angiotensin-converting enzyme and endothelial nitric oxide synthase polymorphisms in patients with atrial fibrillation.		106180	8330	2	2003	The results suggest a possible role of ACE DD genotype as a predisposing factor to AF and a pathophysiological mechanism of ACE inhibition in reducing the incidence of AF in patients with left ventricular dysfunction.	Case:148 patients with persistent atrial fibrillation;Control:210 control subjects										
115234		kidney disease	RENAL	REN	Urinary Tract Infections|Kidney Diseases|Kidney Failure, Chronic|Vesico-Ureteral Reflux	17	17q23	ACE	58908165	58952935		Pardo, R.  et al. 2003	12579398				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pediatric nephrology (Berlin, Germany). 2003 Feb;18(2):110-4	Renin-angiotensin system polymorphisms and renal scarring		106180	8327	2	2003	We conclude that  genetic polymorphisms of RAS components are not independent prognostic indicators of renal scarring in patients with VUR.	Control:40 patients with urinary tract infection and normal findings on renal ultrasonography and voiding:cystoureterogram;Case:69/110/27 patients with vesicoureteral reflux (n=69), reflux nephropathy (n=110) and chronic renal failure:(n=27)										
115235	N	blood pressure, arterial; atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	17	17q23	ACE	58908165	58952935		Kikuya, M.  et al. 2003	12627873				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	CDC GDPinfo	1636	Hs.298469			Hypertension research. 2003 Feb;26(2):141-5	A/C1166 gene polymorphism of the angiotensin II type 1 receptor (AT1) and ambulatory blood pressure: the Ohasama Study.		106180	8328	2	2003	These results indicated that AT1 A/C1166 polymorphism was not associated with any clinical parameters associated with hypertension or atherosclerosis in the Japanese population.	Cohort 802 Japanese subjects aged 40 and over from the Ohasama Study 										
115230	Y	restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis	17	17q23	ACE	58908165	58952935		Ryu, S. K.  et al. 2002	12205735				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Yonsei medical journal. 2002 Aug;43(4):461-72	Renin-angiotensin-aldosterone system (RAAS) gene polymorphism as a risk factor of coronary in-stent restenosis.		106180	8323	2	2002	In conclusion, while the ACE I/D polymorphism promoted the progress of in-stent restenosis and was of clinical significance, the other potential variables examined did not correlate with in-stent restenosis.	Cohort 238 patients (272 stents) who underwent coronary stenting and follow-up angiography 										
115231	Y	ischemia	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Malygina, N. A.  et al. 2002	12360613				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Klinicheskaia meditsina. 2002 ;80(8):25-9	[ACE gene I/D-polymorphism and hereditary predisposition to myocardial infarction]		106180	8324	2	2002	Thus, there is a relationship between insertion-deletion polymorphism of ACE gene and myocardial infarction. Deletion DD genotype raises the risk to develop MI and probability of life-threatening complications and repeated MI.	Case myocardial infarction patients;Control:controls										
115232		nephropathy in other diseases	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Buraczynska, M.  et al. 2002	12476891				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Pol Arch Med Wewn. 2002 Aug;108(2):725-30	[Association of the renin-angiotensin system gene polymorphism with nephropathy in type II diabetes]		106180	8325	2	2002	These results suggest increased susceptibility to diabetic nephropathy in individuals carrying the CC genotype. Therefore, the A1166C polymorphism of the AT1R gene could be a potential genetic marker for increased susceptibility to renal complications in type 2 diabetes.	Case:117 patients with diabetic nephropathy;Control:200 healthy subjects										
115228	Y	diabetes, type 1	IMMUNE	IMM	Albuminuria|Diabetes Mellitus, Type 1	17	17q23	ACE	58908165	58952935		de Azevedo, M. J.  et al. 2002	12126783				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of diabetes and its complications. 2002 Jul-Aug;16(4):255-62	ACE and PC-1 gene polymorphisms in normoalbuminuric Type 1 diabetic patients: a 10-year prospectivestudy.		106180	8321	2	2002	In conclusion, the presence of the ACE gene D allele in this sample of normoalbuminuric normotensive Type 1 diabetic patients was associated with a higher proportion of microvascular complications and hypertension.	Cohort 20 normotensive normoalbuminuric Type 1 diabetic patients 										
115229		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Chen, A.  et al. 2002	12133420				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 May;41(5):298-301	[The relationship of aldosterone synthase gene polymorphism with hypertension and left ventricular hypertrophy]		106180	8322	2	2002	 (1) No relationship between the polymorphism of CYP11B2 gene and ACE gene with essential hyptension could be found. (2) A significant relationship between the polymorphism of ACE and CYP11B2 gene with LVH in EH could be found. I allele of ACE gene and C allele of CYP11B2 gene may be independent risk factors for LVH in hypertensive patients. (3) There is a synergistic effect between the polymorphism of ACE gene and CYP11B2 gene to result in LVH in EH.	Cohort 136 hypertensive patients 		ACE		CYP11B2				Y		left ventricular hypertrophy in essential hypertension
115225		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Fatini, C.  et al. 2002	12015245				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Italy	CDC GDPinfo	1636	Hs.298469			The American journal of medicine. 2002 May;112(7):540-4	High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis		106180	8318	2	2002	 Our findings of an increased risk of systemic sclerosis in ACE D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the pathogenesis of the disease.	Control:112 control subjects;Case:73 consecutive patients (47 with limited and 26 with diffuse cutaneous systemic sclerosis)										
115227	Y	cognitive impairment	PSYCH	PSY	Memory Disorders	17	17q23	ACE	58908165	58952935		Bartres-Faz, D.  et al. 2002	12113906				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Neuroscience letters. 2002 Jul;327(3):177-80	Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment.		106180	8320	2	2002	Multiple regression analyses showed that the APOC1 polymorphism was the only variable which predicted NAA/Cr values in basal ganglia. NAA/Cr metabolites in the medial temporal lobe but not in the basal ganglia region were related with lower performance in verbal memory.	Cohort 44 subjects with age-related memory impairment 										
115223		hypertension; left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Kurland, L.  et al. 2002	11910301				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Sweden	CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2002 Apr;20(4):657-63	Polymorphisms in the angiotensinogen and angiotensin II type 1 receptor gene are related to change in left ventricular mass during antihypertensive treatment: results from theSwedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (		106180	8316	2	2002	The angiotensinogen T174M and M235T and the AT1-receptor A1166C polymorphisms were related to the change in LVH during antihypertensive treatment with an AT1-receptor antagonist; of these angiotensinogen T174M was the most powerful. This highlights the role of the RAAS for left ventricular hypertrophy and the potential of pharmacogenetics as a tool for guidance of antihypertensive therapy.	Cohort Patients with essential hypertension and echocardiographically diagnosed LVH 	atenolol irbesartan									
115224		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Basset, = el-EA et al. 2002	11926202				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Clinical nephrology. 2002 Mar;57(3):192-200	Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS.		106180	8317	2	2002	 This study produced mainly negative results except for ecNOS-a allele, which seems to protect against severe hypertension. The explanation remains speculative but probably relates to the known cyclosporine-induced upregulation of ecNOS gene and enzyme activity.	Cohort 294 consecutive recipients receiving a first renal cadaveric allograft and all treated with CsA (the majority with triple therapy). 										
115221	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Zhang, X.  et al. 2001	11774217			block deletion	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	CDC GDPinfo	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6	[Association between renin-angiotensin system gene polymorphism and type 2 diabetics with stroke in China]		106180	8314	2	2001	 It is suggested that ACE gene I/D polymorphism is a susceptible gene for stroke in DM2 patients in China. AT1R gene A1166C polymorphism contributes to the development of stroke in DM2 patients, but it is not an independent risk factor. There is synergistic effect of AT1R A1166C and ACE I/D gene polymorphisms on the occurrence and development of stroke in type 2 diabetics in China.	Cohort 152 cases of type 2 diabetes 		ACE	I/D intron 16	AGTR123	A1166C					Type 2 diabetes
115222		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Shan, G.  et al. 1999	11864506				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	CDC GDPinfo	1636	Hs.298469			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 1999 Nov;33(6):346-7	[A study on relationship between hypertension and polymorphism of ACE gene in male Yi people in Liangshan Yi autonomous prefecture, Sichuan]		106180	8315	2	1999	 Association between polymorphism of ACE gene and hypertension was uncertain.	Case hypertensive individuals;Control normotensive individuals										
115219	N	stroke, ischemic; stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Chen, J.  et al. 2001	11718065				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	CDC GDPinfo	1636	Hs.298469			Zhonghua liu xing bing xue za zhi. 2001 Aug;22(4):273-6	A study of relationship between oral contraceptives and gene polymorphism and types of stroke		106180	8312	2	2001	 The results suggested that possible association existed between the use of COC and the onset of hemorrhagic stroke, however the mutations of G1691-->A in factor V gene, G20210-->A in prothrombin gene and I/D polymorphism of ACE gene did not seem to contribute to this association.	Case:111 female patients with stroke were selected and with questionnaires filled in and blood samples:collected										
115220		azoospermia; oligoasthenospermia	REPRODUCTION	REP	Oligospermia	17	17q23	ACE	58908165	58952935		Kucera, M.  et al. 2001	11732226				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Czech		CDC GDPinfo	1636	Hs.298469			Ceska Gynekol. 2001 Sep;66(5):313-7	Article in Czech-the allele frequency of ACE and TNF-beta genes in men with pathological sperm count and men with normal fertility		106180	8313	2	2001	 The study has found different allele frequency of I/D ACE and B1/B2 TNF-beta genes polymorphism in men with pathological sperm count compared to men with normal fertility. These results could contribute to elucidate the genetic background of a male infertility.	Case:46 patients (33.4 +/- 7.2 years) with pathological sperm count (9 azoospermia, 21 severe oligoasthenospermia, 16 moderate:oligoasthenospermia);Control:88 healthy men (31.2 +/- 9.3 years) with normal:fertility										
115217	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Shlyakhto, E. V.  et al. 2001	11688760				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Russia	CDC GDPinfo	1636	Hs.298469			Blood pressure. 2001 ;10(3):135-41	Lack of association of the renin-angiotensin system genes polymorphisms and left ventricular hypertrophy in hypertension		106180	8310	2	2001	 In the light of these observations it seems reasonable to make a preliminary conclusion about lack of association between LVH and distinct polymorphisms of renin-angiotensin system genes in the population studied.	Cohort 156 patients (the mean age 49+/-8 years) with mild-to-moderate EH recruited from the general population of the outpatient clinic 										
115218	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Giner, V.  et al. 2001	11707217				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Spanish	Spain	CDC GDPinfo	1636	Hs.298469			Med Clin (Barc). 2001 Nov;117(14):525-9	[Renin-angiotensin system genetic polymorphisms and essential hypertension in the Spanish population]		106180	8311	2	2001	 We found no association between essential hypertension risk and I/D ACE gene, M235T and A-6G angiotensinogen gene, or A1166C angiotensin II type 1 receptor gene polymorphisms. An epistatic effect was observed in young women between angiotensin II type 1 receptor polymorphisms and angiotensinogen polymorphisms.	Case:185 essential hypertensive subjects(age [SD] 39.6 [7.5]:years;Control:350 sex- and age-matched normotensive individuals selected from a sample of the general population:Valenciana, Spain										
115215	Y	diabetes, type 2; nephropathy	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Taniwaki, H.  et al. 2001	11522715				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	CDC GDPinfo	1636	Hs.298469			Diabetes care. 2001 Sep;24(9):1653-60	Relations between ACE gene and ecNOS gene polymorphisms and resistive index in type 2 diabetic patients with nephropathy.		106180	8308	2	2001	 These results suggest that intrarenal hemodynamic abnormalities are present as a feature of the progression of nephropathy in type 2 diabetes, and that they are associated with age, duration of diabetes, decreased creatinine clearance, and blood pressure, but not with the genetic factors of the ACE and ecNOS gene polymorphism in nephropathy of type 2 diabetes.	Cohort 155 type 2 diabetic patients who ranged in age from 40 to 72 years (92 men and 63 women) Japan 										
115216		hypertension; renal dysfunction, posttransplantation	CARDIOVASCULAR	CARD	Kidney Diseases|Hypertension	17	17q23	ACE	58908165	58952935		Abdi, R.  et al. 2001	11544438				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation. 2001 Aug;72(4):726-9	Angiotensin gene polymorphism as a determinant of posttransplantation renal dysfunction and hypertension.		106180	8309	2	2001	 Pretransplantation testing of the ACE, AGT, and AT1 genotypes may assist clinicians in identifying patients at risk for chronic renal transplant dysfunction and hypertension.	Cohort 148 patients (77 men, 71 women) who underwent transplantation over a 5-year period 										
115212	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Cheon, K. T.  et al. 2000	11361058				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Lung. 2000 Nov-Dec;178(6):351-60	Gene polymorphisms of endothelial nitric oxide synthase and angiotensin-converting enzyme in patients with lung cancer.		106180	8305	2	2000	These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of lung cancer.	Control:121 healthy subjects;Case:218 lung cancer patients										
115214	Y	hypertension	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Li, X.  et al. 2001	11484170				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106180	8307	2	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
115209		aortic stiffness	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Lajemi, M.  et al. 2001	11288810				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2001 Mar;19(3):407-13	Angiotensin II type 1 receptor-153A/G and 1166A/C gene polymorphisms and increase in aortic stiffness with age in hypertensive subjects		106180	8302	2	2001	 AT1 receptor genotypes could influence arterial ageing in hypertensive subjects. These results also show that the association between genotypes and arterial stiffness may manifest itself later in life.	Cohort 441 18-74 year old untreated hypertensive subjects European origin 										
115210	N	Alzheimer's disease; vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	17	17q23	ACE	58908165	58952935		Zuliani, G.  et al. 2001	11328206				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Acta neurologica Scandinavica. 2001 May;103(5):304-8	Genetic polymorphisms in older subjects with vascular or Alzheimer's dementia.		106180	8303	2	2001	 Paraoxonase, ACE, and MTHFR polymorphisms were not associated with VD or LOAD; these common polymorphisms might have a marginal role in the pathogenesis of dementia in older subjects. In spite of a low frequency of the apo E epsilon4 allele in our sample, the frequency of epsilon4 allele was about double in LOAD compared with controls.	Case:45 patients with late-onset AD;Control:54 non-demented controls										
115211		obstructive sleep apnea syndrome	OTHER	OTH	Sleep Apnea, Obstructive|Hypertension	17	17q23	ACE	58908165	58952935		Xiao, Y.  et al. 1998	11360521				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		CDC GDPinfo	1636	Hs.298469			Zhonghua jie he he hu xi za zhi. 1998 Aug;21(8):489-91	[Angiotension I converting enzyme gene polymorphism in Chinese patients with obstructive sleep apnea syndrome]		106180	8304	2	1998	 These results indicate that the II genotype and I allele might be a risk factor for OSAS in Chinese.	Case obstructive sleep apnea patients;Control not specified in abstract										
115207		albuminuria	HEMATOLOGICAL	HEM	Albuminuria|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Thomas, G. N.  et al. 2001	11200871				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	CDC GDPinfo	1636	Hs.298469			Clinical nephrology. 2001 Jan;55(1):15-Jul	Albuminuria and the renin-angiotensin system gene polymorphisms in type-2-diabetic and in normoglycemic hypertensive Chinese		106180	8300	2	2001	 In this cohort of Chinese subjects, the ACE gene polymorphism D allele was less frequent in normoglycemic hypertensive patients with albuminuria and in type 2 diabetes.	Control:111 Chinese controls;Case:405 Chinese type 2 diabetics;Case:98 Chinese normoglycemic hypertensives										
115208		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Holla, L. I.  et al. 2001	11210078				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of periodontology. 2001 Jan;72(1):85-9	Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis		106180	8301	2	2001	 This study is of an exploratory nature. Considering the number of significant results, however, at least a part of the observed associations may obviously be real and our findings suggest that interactions of the TNF-beta, ET-1, and ACE genes may be involved in susceptibility to adult periodontitis.	Case:63 Caucasian patients with adult periodontitis;Control:95 orally healthy controls		TNF-beta		ET-123		ACE		Y		adult periodontitis
115203	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	17	17q23	ACE	58908165	58952935		Miloserdova OV 2001	11761617				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Moscow	Y Wang	1636	Hs.298469			Genetika. 2001 Oct;37(10):1396-401	Analysis of polymorphic variants of renin-angiotensin system genes in polymetabolic syndrome and non-insulin-dependent diabetes , trans Analiz polimorfnykh variantov genov renin-angiotenzinovoi sistemy pri polimetabolicheskom sindrome i insulin-nezavisimo		106180	2045	1	2001	The insertional (I) allele and genotype II of the ACE gene proved to be associated with PMS. A significant difference in allele and genotype frequency distributions of the (CA)n microsatellite of the 3'-untranslated exon of the angiotensinogen gene was revealed between randomly sampled individuals and patients with PMS and IDDM from the Moscow population.											
115204		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Liao L 1999	11938734				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	diabetic retinopathy		Hunan yi ke da xue xue bao. 1999 ;24(1):33-6	Studies on ACE gene insertion/deletion polymorphism, serum ACE activity, and diabetic retinopathy in type II diabetic patients		106180	2046	1	1999												
115205	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lee, Y. C.  et al. 2000	11030378				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Allergy. 2000 Oct;55(10):959-63	Gene polymorphisms of endothelial nitric oxide synthase and angiotensin-converting enzyme in patients with asthma.		106180	8297	2	2000	 These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of asthma. However, the severity of asthma may not be influenced by polymorphisms of the ecNOS and ACE genes.	Control:121 healthy subjects;Case:310 patients with bronchial asthma										
115200	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	17	17q23	ACE	58908165	58952935		Miloserdova OV 2001	11761617				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Moscow	Y Wang	1636	Hs.298469			Genetika. 2001 Oct;37(10):1396-401	Analysis of polymorphic variants of renin-angiotensin system genes in polymetabolic syndrome and non-insulin-dependent diabetes , trans Analiz polimorfnykh variantov genov renin-angiotenzinovoi sistemy pri polimetabolicheskom sindrome i insulin-nezavisimo		106180	2042	1	2001	The insertional (I) allele and genotype II of the ACE gene proved to be associated with PMS. A significant difference in allele and genotype frequency distributions of the (CA)n microsatellite of the 3'-untranslated exon of the angiotensinogen gene was revealed between randomly sampled individuals and patients with PMS and IDDM from the Moscow population.											
115201		cystic fibrosis	OTHER	OTH	Pseudomonas Infections|Cystic Fibrosis|Chronic Disease	17	17q23	ACE	58908165	58952935		Aaron SD 2004	14670805				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Canada	KGB	1636	Hs.298469			American journal of respiratory and critical care medicine. 2004 Apr;169(7):811-5	Adult cystic fibrosis exacerbations and new strains of Pseudomonas aeruginosa.		106180	2043	1	2004	We conclude that  for the majority of adult patients with cystic fibrosis a new pulmonary exacerbation is not caused by the acquisition of a new strain of P. aeruginosa.											
115202		cancer	CANCER	CAN	Adenocarcinoma|Colonic Neoplasms|Stomach Neoplasms	17	17q23	ACE	58908165	58952935		Mare L 2004	14686931				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European journal of biochemistry . 2004 Jan;271(1):186-94	Suppression of beta 1,3galactosyltransferase beta 3Gal-T5 in cancer cells reduces sialyl-Lewis a and enhances poly N-acetyllactosamines and sialyl-Lewis x on O-glycans.		106180	2044	1	2004												
115197		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Araz M 2001	11640993	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	Y Wang	1636	Hs.298469	Complications		Diabetes research and clinical practice. 2001 Nov;54(2):95-104	Angiotensin-converting enzyme gene polymorphism and microvascular complications in Turkish type 2 diabetic patients.		106180	2039	1	2001												
115198		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Mizuiri S1995	7477652	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		Y Wang	1636	Hs.298469	Complications		Nephron. 1995 ;70(4):455-9	Angiotensin-converting enzyme polymorphism and development of diabetic nephropathy in non-insulin-dependent diabetes mellitus.		106180	2040	1	1995												
115199		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Mizuiri S 1998	9469501				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		American journal of kidney diseases. 1998 Feb;31(2):301-7	Renal ACE immunohistochemical localization in NIDDM patients with nephropathy.		106180	2041	1	1998												
115194		diabetes, type 2	METABOLIC	MET	Hypertension, Renovascular|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Molnar GA 2004	15156690				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Orvosi hetilap. 2004 Apr;145(16):855-9	Effect of ACE gene polymorphism on carbohydrate metabolism, on oxidative stress and on end-organ damage in type-2 diabetes mellitus , trans Az ACE gen polimorfizmusanak befolyasa a szenhidrat-anyagcserere, az oxidativ stresszre es a celszervkarosodasra 2-		106180	2036	1	2004												
115195		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Araz M 2002	12166538	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		International journal of clinical practice. 2002 Jul-Aug;56(6):416-8	Angiotensin converting enzyme gene polymorphism and glomerular filtration rate changes in type 2 diabetic patients.		106180	2037	1	2002												
115196		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Araz M 2002	12222694	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	Y Wang	1636	Hs.298469	Complications		Acta cardiologica. 2002 Aug;57(4):265-9	Angiotensin-converting enzyme gene polymorphism and coronary heart disease in Turkish type 2 diabetic patients.		106180	2038	1	2002	 ACE gene polymorphism is not a significant parameter to determine coronary heart disease in Turkish type 2 diabetic patients.											
115191		congenital uropathies	OTHER	OTH	Urologic Diseases	17	17q23	ACE	58908165	58952935		Bajpai M 2004	14713838				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Indian	India	KGB	1636	Hs.298469			The Journal of urology. 2004 Feb;171(2 Pt 1):838-40	Angiotensin converting enzyme gene polymorphism in Asian Indian children with congenital uropathies.		106180	2033	1	2004	 The presence of D allele in I/D polymorphism of angiotensin converting enzyme gene is associated with progressive deterioration of renal function in congenital uropathies. The D allele was also significantly associated with renal scarring independent of known risk factors such as grade of reflux, age at diagnosis, gender and urinary tract infection.											
115192		insulin resistance	METABOLIC	MET	Insulin Resistance|Body Weight	17	17q23	ACE	58908165	58952935		Morrison JA 2004	15045693				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	caucasian		KGB	1636	Hs.298469			Metabolism:  clinical and experimental. 2004 Apr;53(4):465-8	Population-specific alleles: the polymorphism (K121Q) of the human glycoprotein PC-1 gene is strongly associated with race but not with insulin resistance in black and white children.		106180	2034	1	2004												
115193		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Nacak M 2004	15033618				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	KGB	1636	Hs.298469			Anadolu kardiyoloji dergisi. 2004 Mar;4(1):45-51	Association between angiotensin converting enzyme gene polymorphism and coronary artery disease in individuals of the South-Eastern Anatolian population.		106180	2035	1	2004	 Our study did not confirm the possibility that the ACE DD genotypes may be associated with predisposition to CAD in this certain population but there is a relationship between the least frequencies of the II genotype and CAD. The II genotype seems to be an independent protective factor for CAD in the South-Eastern Anatolian population.											
115188		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Nagi DK1995	8582133	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	diabetic retinopathy		Diabetic medicine. 1995 Nov;12(11):997-1001	Angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism, and diabetic retinopathy in subjects with IDDM and NIDDM.		106180	2030	1	1995												
115189		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	17	17q23	ACE	58908165	58952935		Bonifati DM 2004	14981744				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		India|Great Britain	KGB	1636	Hs.298469			Muscle & nerve. 2004 Mar;29(3):436-9	Lack of association between acetylcholine receptor epsilon polymorphisms and early-onset myasthenia gravis.		106180	2031	1	2004												
115190		factor V Leiden	HEMATOLOGICAL	HEM	Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Abruptio Placentae|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thrombophilia|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Camilleri RS 2004	15091001				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	caucasian		KGB	1636	Hs.298469			Blood coagulation & fibrinolysis. 2004 Mar;15(2):139-47	-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications.		106180	2032	1	2004												
115185		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Chang HK 2004	14672905				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Korean		KGB	1636	Hs.298469			Annals of the rheumatic diseases. 2004 Jan;63(1):106-7	Lack of association between angiotensin converting enzyme gene polymorphism and Korean Behcet's disease.		106180	2027	1	2004												
115186		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Ohno T 1996	8596493	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		Y Wang	1636	Hs.298469	Complications		Metabolism:  clinical and experimental. 1996 Feb;45(2):218-22	Association analyses of the polymorphisms of angiotensin-converting enzyme and angiotensinogen genes with diabetic nephropathy in Japanese non-insulin-dependent diabetics.		106180	2028	1	1996												
115187		diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Panagiotopoulos S1995	8573745				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Journal of diabetes and its complications. 1995 Oct-Dec;9(4):272-6	Angiotensin-converting enzyme (ACE) gene polymorphism in type II diabetic patients with increased albumin excretion rate.		106180	2029	1	1995												
115182		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Insulin Resistance	17	17q23	ACE	58908165	58952935		Panahloo A1995	8521557				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Circulation. 1995 Dec;92(12):3390-3	The insertion allele of the ACE gene I/D polymorphism. A candidate gene for insulin resistance?		106180	2024	1	1995	 We conclude that increased cardiovascular risk of the DD genotype is not mediated through insulin resistance or abnormalities in fibrinolysis. Conversely, we report an increased sensitivity in NIDDM subjects with the ACE DD genotype.											
115183		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Chang HR 2003	12728975	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Journal of the Chinese Medical Association. 2003 Jan;66(1):51-6	Study of the polymorphism of angiotensinogen, anigiotensin-converting enzyme and angiotensin receptor in type II diabetes with end-stage renal disease in Taiwan.		106180	2025	1	2003	 In conclusion, there were significantly higher frequencies of alleles and genotypes in AGT point mutation at 174, which had never been reported before. In AGT point mutation at 235, there were significantly higher frequencies of alleles, but not genotypes in diabetic nephropathy. Our study suggested that the AGT gene plays an important role in diabetic nephropathy.											
115184		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Cook LJ 2004	15026168				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuroscience letters. 2004 Mar;358(2):142-6	Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease.		106180	2026	1	2004												
115179		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Cooper GS 2004	14705222				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The Journal of rheumatology. 2004 Jan;31(1):76-80	N-acetyl transferase genotypes in relation to risk of developing systemic lupus erythematosus.		106180	2021	1	2004	 Our results suggest that although there is little overall association between NAT genotypes and risk of developing SLE, the interaction between NAT1 and NAT2 and specific exposures such as hair dyes may be important. This finding highlights the need to consider exposure when assessing genetic susceptibility.											
115180		Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Petrovic D 2004	15026870				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Angiology. 2004 Mar-Apr;55(2):155-8	Sex difference in the effect of ACE-DD genotype on the risk of premature myocardial infarction.		106180	2022	1	2004												
115181		endovascular revascularization	CARDIOVASCULAR	CARD	Renal Artery Obstruction|Arteriosclerosis|Recurrence	17	17q23	ACE	58908165	58952935		Pizzolo F 2004	14718831				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of vascular surgery. 2004 Jan;39(1):140-7	Renovascular disease: effect of ACE gene deletion polymorphism and endovascular revascularization.		106180	2023	1	2004	 Conservative medical treatment of RAS, compared with endovascular treatment, is associated with higher mortality, poorer blood pressure control, and impaired renal function over the long term. Early endovascular treatment enables amelioration of this unfavorable evolution. The DD genotype does not predict clinical outcome of RAS.											
115176		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Proteinuria|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Progression	17	17q23	ACE	58908165	58952935		Prkacin I 2001	11505631	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Acta medica Croatica. 2001 ;55(2):73-6	Angiotensin-converting enzyme gene polymorphism in patients with systemic lupus.		106180	2018	1	2001												
115177	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	17	17q23	ACE	58908165	58952935		Costa LA 2002	12453999	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Brazil	Y Wang	1636	Hs.298469	Complications		Diabetes care. 2002 Dec;25(12):2365-6; author reply 2366-7	The ACE insertion/deletion polymorphism is not associated with the metabolic syndrome (WHO Definition) in Brazilian type 2 diabetic patients.		106180	2019	1	2002												
115178		familial adenomatous polyposis	CANCER	CAN	Adenomatous Polyposis Coli	17	17q23	ACE	58908165	58952935		Crabtree MD 2004	14724163				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Gut. 2004 Feb;53(2):271-6	Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.		106180	2020	1	2004	 The severity of colonic FAP may be modified by alleles at the NAT1 and/or NAT2 loci. The identity of any functional variation remains unknown as NAT1*10 appears to be non-functional and there is linkage disequilibrium between alleles at multiple sites within these loci which are adjacent on chromosome 8p22. While evidence from this study cannot be conclusive, our data suggest that NAT1 and NAT2 variants may explain an approximately twofold increase in polyp number in the FAP colon.											
115173		tachycardia cardiomyopathy	CARDIOVASCULAR	CARD	Tachycardia|Cardiomyopathies	17	17q23	ACE	58908165	58952935		Deshmukh PM 2004	14767579				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			International journal of molecular medicine. 2004 Mar;13(3):455-8	Association of angiotensin converting enzyme gene polymorphism with tachycardia cardiomyopathy.		106180	2014	1	2004												
115174		diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Obesity	17	17q23	ACE	58908165	58952935		Puzniak A 1999	10948701				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Pol Arch Med Wewn. 1999 Aug;102(2):685-90	Angiotensin converting enzyme gene polymorphism in type 2 diabetes mellitus , trans Polimorfizm genu enzymu konwertujacego angiotensyne (ACE) u chorych na cukrzyce typu 2.		106180	2016	1	1999												
115175		Schindler/Kanzaki disease	OTHER	OTH	Fabry Disease|Neuroaxonal Dystrophies	17	17q23	ACE	58908165	58952935		Sakuraba H 2004	14685826				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of human genetics. 2004 ;49(1):8-Jan	Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).		106180	2017	1	2004												
115170		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Taniwaki H 2001	11522715				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	Y Wang	1636	Hs.298469	Complications		Diabetes care. 2001 Sep;24(9):1653-60	Relations between ACE gene and ecNOS gene polymorphisms and resistive index in type 2 diabetic patients with nephropathy.		106180	2011	1	2001	 These results suggest that intrarenal hemodynamic abnormalities are present as a feature of the progression of nephropathy in type 2 diabetes, and that they are associated with age, duration of diabetes, decreased creatinine clearance, and blood pressure, but not with the genetic factors of the ACE and ecNOS gene polymorphism in nephropathy of type 2 diabetes.	Cohort 155 type 2 diabetic patients who ranged in age from 40 to 72 years (92 men and 63 women) Japan										
115171		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Schmidt S 1997	9269698	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Nephrology, dialysis, transplantation. 1997 ;12 Suppl 2:37-41	Angiotensin I converting enzyme gene polymorphism and diabetic nephropathy in type II diabetes.		106180	2012	1	1997	 Although we acknowledge certain problems in the design of the study the results in this large cohort suggest that the I/D polymorphism of the ACE gene does not play a major role in the development of DN. They are compatible, however, with a role of the gene in progression.											
115172		prostate cancer	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis	17	17q23	ACE	58908165	58952935		Demetriou MC 2004	15023541				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Experimental cell research. 2004 Apr;294(2):550-8	Extracellular alpha 6 integrin cleavage by urokinase-type plasminogen activator in human prostate cancer.		106180	2013	1	2004												
115167	N	diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Dudley CR1995	8587251				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Great Britain	Y Wang	1636	Hs.298469	Complications		Kidney international. 1995 Dec;48(6):1907-11	U.K. Prospective Diabetes Study. XV: Relationship of renin-angiotensin system gene polymorphisms with microalbuminuria in NIDDM.		106180	2008	1	1995												
115168		blood pressure	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Di Pasquale P 2004	15012913				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European journal of heart failure. 2004 Jan;6(1):6-Nov	Does angiotensin-converting enzyme gene polymorphism affect blood pressure? Findings after 6 years of follow-up in healthy subjects.		106180	2009	1	2004	 Our data suggest that ACE-DD polymorphism is associated with a higher incidence of hypertension in baseline healthy subjects, irrespective of other risk factors. The higher incidence of hypertension was apparent predominantly in the older age groups.											
115169		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Schmidt S 1997	9075119				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Nephrology, dialysis, transplantation. 1997 Mar;12(3):427-9	Excess of DD homozygotes in haemodialysed patients with type II diabetes. The Diabetic Nephropathy Study Group.		106180	2010	1	1997												
115164		Alzheimer's Disease	NEUROLOGICAL	NEUR	Ischemic Attack, Transient|Alzheimer Disease|Coronary Artery Disease|Genetic Predisposition to Disease|Nerve Degeneration	17	17q23	ACE	58908165	58952935		Tian J 2004	14698449				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuroscience letters. 2004 Jan;354(2):103-6	A polymorphism in the angiotensin 1-converting enzyme gene is associated with damage to cerebral cortical white matter in Alzheimer's disease.		106180	2005	1	2004												
115165		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Tarnow L 1998	9623540	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Nephrology, dialysis, transplantation. 1998 May;13(5):1125-30	Diabetic nephropathy and the insertion/deletion polymorphism of the angiotensin-converting enzyme gene.		106180	2006	1	1998												
115166		diabetes, type 2	METABOLIC	MET	Carotid Artery Diseases|Diabetes Mellitus, Type 2|Hyperlipidemias	17	17q23	ACE	58908165	58952935		Diamantopoulos EJ 2002	11941276				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Greece	Y Wang	1636	Hs.298469	Complications		International angiology. 2002 Mar;21(1):63-9	Atherosclerosis of carotid arteries and the ace insertion/deletion polymorphism in subjects with diabetes mellitus type 2.		106180	2007	1	2002	 The ACE genotype seems to be associated with the echogenicity of carotid artery atheromatosis but not with the common carotid artery intima media thickness or the degree of internal carotid artery stenosis in subjects with type 2 diabetes mellitus. The DD genotype may be implicated in the increased cardiovascular risk that characterizes echolucent plaques.											
115161		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetic Angiopathies|Diabetic Retinopathy|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Fradin S 2002	11938025				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Diabetes & metabolism. 2002 Feb;28(1):27-32	Relationship between polymorphisms in the renin-angiotensin system and nephropathy in type 2 diabetic patients.		106180	2002	1	2002	 In conclusion, we observed an interaction of A1166C AT1R polymorphism with diabetes in men but not of I/D ACE and M235T AGT polymorphisms.											
115162		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Fava S 2001	11723093				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		Y Wang	1636	Hs.298469	Complications		Diabetes care. 2001 Dec;24(12):2115-20	ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal disease.		106180	2003	1	2001	 The DD genotype of the ACE gene polymorphism is associated with a more rapid decline in renal function and higher mortality in type 2 diabetic patients with established nephropathy.											
115163		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	17	17q23	ACE	58908165	58952935		Tassiulas IO 1998	9710341				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		Y Wang	1636	Hs.298469			Clinical nephrology. 1998 Jul;50(1):13-Aug	Angiotensin I converting enzyme gene polymorphisms in systemic lupus erythematosus: decreased prevalence of DD genotype in African American patients.		106180	2004	1	1998												
115158		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Vasku A 2003	12728584				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Vnitr Lek. 2003 Mar;49(3):164-5	Editorial on the article by O. Valocik et al: Effect of ACE gene polymorphism on left ventricular function in type 2 diabetes , trans Editorial k praci Valocik O. et al.: Vplyv polymorfizmu ACE genu na funkciu l'avej komory u chorych s diabetem 2. typu.		106180	1999	1	2003												
115160		renal disease	OTHER	OTH	Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Flakoll PJ 2004	14763788				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			JPEN  Journal of parenteral and enteral nutrition. 2004 Jan-Feb;28(1):13-21	Bioelectrical impedance vs air displacement plethysmography and dual-energy X-ray absorptiometry to determine body composition in patients with end-stage renal disease.		106180	2001	1	2004	 Body fat measurements using ADP and DXA were correlated with those using BIA across a relatively wide range of body fat levels in adults with ESRD. However, BIA appeared to underestimate body fat and overestimate fat-free mass, possibly because of increased measurements of body water. Because ADP is convenient and does not use body water content in determination of body density and body composition, it has very good potential as a relatively new technique to estimate percent body fat in adults with ESRD.											
115155		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis	17	17q23	ACE	58908165	58952935		Guan T 1997	10436947	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1997 Jul;36(7):461-4	Angiotensin-converting enzyme gene polymorphism and the clinical pathological features and progression in lupus nephritis		106180	1996	1	1997												
115156	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Globocnik-Petrovic M 2003	12660488	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		Y Wang	1636	Hs.298469	diabetic retinopathy		Ophthalmologica. 2003 May-Jun;217(3):219-24	Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes.		106180	1997	1	2003	Neither the 4G/5G PAI-1 gene polymorphism nor the I/D ACE gene polymorphism contributed to the genetic susceptibility to diabetic retinopathy, either non-proliferative, proliferative or severe proliferative diabetic retinopathy, i.e. visual acuity of 0.1 or less in the better eye, in a group of Caucasian subjects with type 2 diabetes.	Case:124 subjects with type 2 diabetes and diabetic:retinopathy;Control:80 idabetic subjects without retinopathy with diabetes of a duration of more than 10 years										
115157		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Valocik G 2003	12728591				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Vnitr Lek. 2003 Mar;49(3):181-4	Effect of ACE gene polymorphism on left ventricular function in patients with type 2 diabetes , trans Vplyv polymorfizmu ACE genu na funkciu l'avej komory u chorych s diabetom 2. typu.		106180	1998	1	2003												
115152		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Wong TY 2001	11431175				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		American journal of kidney diseases. 2001 Jul;38(1):17-Sep	Contribution of gene polymorphisms in the renin-angiotensin system to macroangiopathy in patients with diabetic nephropathy.		106180	1993	1	2001												
115153		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Wu S 1997	9596955				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		Y Wang	1636	Hs.298469	Complications		Zhonghua yi xue za zhi. 1997 Mar;77(3):183-6	Relationship between angiotensin 1 converting enzyme gene polymorphism and diabetic nephropathy		106180	1994	1	1997	 The I/D polymorphism of ACE gene may be the factor of genetic predisposition of early-onset diabetic nephropathy in Chinese NIDDM.											
115154		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Grzeszczak W 1998	9727375	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Journal of the American Society of Nephrology. 1998 Sep;9(9):1664-9	Angiotensin I-converting enzyme gene polymorphisms: relationship to nephropathy in patients with non-insulin dependent diabetes mellitus.		106180	1995	1	1998												
115149	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935	non significant	Gutierrez C 1997	9258285	insertion/deletion	Homozygous DD show higher ACE plasma levels	block deletion	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian	Mediterranean Sea	Y Wang	1636	Hs.298469	Complications		Metabolism:  clinical and experimental. 1997 Aug;46(8):976-80	Angiotensin I-converting enzyme and angiotensinogen gene polymorphisms in non-insulin-dependent diabetes mellitus. Lack of relationship with diabetic nephropathy and retinopathy in a Caucasian Mediterranean population.		106180	1990	1	1997	We conclude that  the ACE and AGT polymorphisms do not contribute to the genetic susceptibility to diabetic nephropathy and retinopathy in a caucasian Mediterranean population.	Case:193; Control:90										
115150		diabetes, type 2	METABOLIC	MET	Proteinuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Ha SK 2000	11007831				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Nephrology, dialysis, transplantation. 2000 Oct;15(10):1617-23	ACE DD genotype is more susceptible than ACE II and ID genotypes to the antiproteinuric effect of ACE inhibitors in patients with proteinuric non-insulin-dependent diabetes mellitus.		106180	1991	1	2000	 Our results suggest that the ACE gene polymorphism might have a role in determining the responsiveness to the antiproteinuric effect of ACE inhibition in proteinuric NIDDM patients.											
115146		Asthma	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935		Yildiz P 2004	15115168				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The Journal of asthma. 2004 Apr;41(2):159-66	Endothelial dysfunction in patients with asthma: the role of polymorphisms of ACE and endothelial NOS genes.		106180	1987	1	2004	 Patients with asthma have decreased vasodilatatory response to shear stress (EDD). Decreased EDD is correlated with the severity of asthma, but not with the distribution of ACE and eNOS genotypes.	Case:49;Control:49 age- and sex-matched healthy controls (20 male, 29										
115147		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure, Chronic|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Yoshida H 1996	8840299	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	Y Wang	1636	Hs.298469			Kidney international. 1996 Aug;50(2):657-64	Angiotensin I converting enzyme gene polymorphism in non-insulin dependent diabetes mellitus.		106180	1988	1	1996												
115148		coronary artery bypass graft surgery	CARDIOVASCULAR	CARD	Respiratory Insufficiency|Kidney Failure, Chronic|Chromosome Deletion|Genetic Predisposition to Disease|Postoperative Complications	17	17q23	ACE	58908165	58952935		Yende S 2004	15071379				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	risk of mechanical ventilation		Critical care medicine. 2004 Apr;32(4):922-7	Clinical relevance of angiotensin-converting enzyme gene polymorphisms to predict risk of mechanical ventilation after coronary artery bypass graft surgery.		106180	1989	1	2004	 Angiotensin-converting enzyme gene polymorphisms are associated with respiratory complications postcardiopulmonary bypass. The increased risk associated with genotype may be amenable to alternative surgical technique or pharmacologic manipulation.											
115143		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Hanyu O 1998	9509566	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Renal failure. 1998 Jan;20(1):125-33	Polymorphism of the angiotensin I-converting enzyme gene in diabetic nephropathy in type II diabetic patients with proliferative retinopathy.		106180	1984	1	1998												
115144		thrombotic diseases	OTHER	OTH	Thrombosis	17	17q23	ACE	58908165	58952935		Herrmann FH 2004	14689519	ACE I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Indian	Costa Rica	KGB	1636	Hs.298469			American journal of human biology. 2004 Jan-Feb;16(1):82-6	Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.		106180	1985	1	2004												
115145		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Disease Progression	17	17q23	ACE	58908165	58952935		Ha SK 2003	12722028	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Korean	Korea	Y Wang	1636	Hs.298469	Complications		American journal of kidney diseases. 2003 May;41(5):943-9	ACE gene polymorphism and progression of diabetic nephropathy in Korean type 2 diabetic patients: effect of ACE gene DD on the progression of diabetic nephropathy.		106180	1986	1	2003	 It is suggested that the ACE gene DD genotype might be a significant risk factor for the progression of diabetic nephropathy.											
115140		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	17	17q23	ACE	58908165	58952935		Huang XH 1998	9544854	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Human genetics. 1998 Mar;102(3):372-8	Relationship of the angiotensin-converting enzyme gene polymorphism to glucose intolerance, insulin resistance, and hypertension in NIDDM.		106180	1981	1	1998												
115141		bipolar disorder	PSYCH	PSY	Tobacco Use Disorder|Genetic Predisposition to Disease|Bipolar Disorder	17	17q23	ACE	58908165	58952935		Hong CJ 2004	14729237				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuroscience letters. 2004 Jan;355(2-Jan):69-72	Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder.		106180	1982	1	2004												
115142		diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Yudkin JS 1997	9351388				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Arteriosclerosis, thrombosis, and vascular biology. 1997 Oct;17(10):2188-91	The angiotensin-converting enzyme gene and the angiotensin II type I receptor gene as candidate genes for microalbuminuria. A study in nondiabetic and non-insulin-dependent diabetic subjects.		106180	1983	1	1997												
115137		Neutral endopeptidase activity	NORMALVARIATION	NV	Hypertension	17	17q23	ACE	58908165	58952935		Jalil JE 2004	14730327	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	a normal and inverse relationship between the ACE polymorphism and NEP activity in normotensive humans		Journal of human hypertension. 2004 Feb;18(2):119-25	Neutral endopeptidase and angiotensin I converting enzyme insertion/deletion gene polymorphism in humans.		106180	1978	1	2004												
115138		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Huang XH 1998	9730698	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Nephron. 1998 Sep;80(1):17-24	Angiotensin-converting enzyme insertion/deletion polymorphism and diabetic albuminuria in patients with NIDDM followed Up for 9 years.		106180	1979	1	1998												
115139		chronic heart failure	CARDIOVASCULAR	CARD	Heart Failure|Ventricular Dysfunction, Left	17	17q23	ACE	58908165	58952935		Huang W 2004	15012915				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	KGB	1636	Hs.298469			European journal of heart failure. 2004 Jan;6(1):23-7	Association of the angiotensin-converting enzyme gene polymorphism with chronic heart failure in Chinese Han patients.		106180	1980	1	2004	 In Chinese Han patients with CHF, ACE gene DD polymorphism might be a marker of a more severe condition, and a higher level of activation of the renin-angiotensin system.											
115134		allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kim JJ 2004	15112973				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Czech	Korea	KGB	1636	Hs.298469			The Annals of otology, rhinology, and laryngology. 2004 Apr;113(4):297-302	Association between polymorphisms of the angiotensin-converting enzyme and angiotensinogen genes and allergic rhinitis in a Korean population.		106180	1975	1	2004												
115135		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Coronary Disease|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Jeffers BW 1997	9264004				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Kidney international. 1997 Aug;52(2):473-7	Angiotensin-converting enzyme gene polymorphism in non-insulin dependent diabetes mellitus and its relationship with diabetic nephropathy.		106180	1976	1	1997												
115136		diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Ito H 2002	12449516	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		The Journal of international medical research. 2002 Sep-Oct;30(5):476-82	Angiotensin-converting enzyme insertion/deletion polymorphism and polyneuropathy in type 2 diabetes without macroalbuminuria.		106180	1977	1	2002												
115131		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Levinson O 1999	10955109	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	diabetic nephropathy		Harefuah. 1999 May;136(10):768-73, 843	Angiotensin converting enzyme (ACE) gene polymorphism in a diabetic cohort and diabetic nephropathy		106180	1972	1	1999	We conclude that  in the population sampled, there was no association between the D allele of the ACE gene and the risk of developing nephropathy in NIDDM.											
115132		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Kimura H 1998	9844142	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Kidney international. 1998 Nov;54(5):1659-69	Polymorphisms of angiotensin converting enzyme and plasminogen activator inhibitor-1 genes in diabetes and macroangiopathy1.		106180	1973	1	1998	 These results indicate that the ACE DD genotype and its interaction with the PAI-1 4G4G genotype are independent risk factors for macroangiopathy, but not for the progression of diabetic nephropathy in NIDDM patients, and that the genotyping of PAI-1 and ACE polymorphisms, especially in patients with advanced diabetic nephropathy, may be useful for predicting and preventing macroangiopathy-related events.											
115133		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	17	17q23	ACE	58908165	58952935		Kaufman KM 2001	11377823	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Molecular and cellular endocrinology. 2001 May;177(2-Jan):81-5	Linkage analysis of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and systemic lupus erythematosus.		106180	1974	1	2001												
115128		COPD	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	17	17q23	ACE	58908165	58952935		Kanazawa H 2003	12832683				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Thorax. 2003 Jul;58(7):629-31	Effects of captopril administration on pulmonary haemodynamics and tissue oxygenation during exercise in ACE gene subtypes in patients with COPD: a preliminary study.		106180	1969	1	2003	 These findings suggest that pulmonary haemodynamic variables and state of tissue oxygenation during exercise are dependent on ACE genotypes, and that captopril administration effectively influences these exercise related variables. Although the sample size in this pilot study was limited, it is likely that the improvement in exercise related variables in COPD patients with the II genotype is relatively sensitive to captopril.											
115129		VO(2max)	OTHER	OTH		17	17q23	ACE	58908165	58952935		Zhao B 2003	12967686				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	chinese		KGB	1636	Hs.298469			Life sciences. 2003 Oct;73(20):2625-30	Relationship between angiotensin-converting enzyme ID polymorphism and VO(2max) of Chinese males.		106180	1970	1	2003												
115130	N	diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Klemm T 2003	12669270				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469	Complications		Horm Metab Res. 2003 Jan;35(1):43-7	No association between the angiotensin-converting-enzyme gene insertion/deletion polymorphism and the occurrence of macroangiopathy in patients with diabetes mellitus type 2.		106180	1971	1	2003												
115125		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Hadjadj S 2003	12873298				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetic medicine. 2003 Aug;20(8):677-82	Angiotensin-I-converting enzyme insertion/deletion polymorphism and high urinary albumin concentration in French Type 2 diabetes patients.		106180	1966	1	2003	 The ACE I/D polymorphism was not associated with high urinary albumin concentration in French Type 2 diabetes patients.											
115126		venous thromboembolism.	OTHER	OTH	Venous Thrombosis	17	17q23	ACE	58908165	58952935		Fatini C 2003	12864773				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European journal of clinical investigation. 2003 Aug;33(8):642-7	ACE DD genotype: an independent predisposition factor to venous thromboembolism.		106180	1967	1	2003	 This study shows that angiotensin-converting enzyme DD genotype represents a susceptibility marker of thrombosis in subjects apparently without predisposing factors and traditional thrombophilic alterations, and increases the risk of venous thromboembolism in subjects in whom a thrombogenic condition occurs. Moreover, angiotensin-converting enzyme DD genotype may be considered a new predisposing factor to venous thromboembolism recurrence.											
115127		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	17	17q23	ACE	58908165	58952935		Eisenhardt A 2003	12837457				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Urology. 2003 Jul;62(1):152-7	ACE gene I/D and NOS3 G894T polymorphisms and response to sildenafil in men with erectile dysfunction.		106180	1968	1	2003	 It appears that patients with elevated ACE serum concentrations, as associated with the D allele of the ACE I/D polymorphism, are less likely to respond to sildenafil.	Control:108 healthy male blood donors;Case:113 men with erectile dysfunction	sildenafil									
115122		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Seripa D 2003	12928053				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United States|Italy	KGB	1636	Hs.298469			Neurobiology of aging. 2003 Nov;24(7):933-9	Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients.		106180	1963	1	2003												
115123	Y	the extent of exercise-induced left ventricular growth in endurance athletes	OTHER	OTH	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Hernandez D 2003	12906984				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 2003 Aug;42(3):527-32	exercise-induced left ventricular growth		106180	1964	1	2003	 The ACE/DD genotype is associated with the extent of exercise-induced LVH in endurance athletes, regardless of other known biologic factors.											
115124	N	normal cognitive ageing	AGING	AGE		17	17q23	ACE	58908165	58952935	n	Visscher PM 2003	12875914				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuroscience letters. 2003 Aug;347(3):175-8	Lack of association between polymorphisms in angiotensin-converting-enzyme and methylenetetrahydrofolate reductase genes and normal cognitive ageing in humans.		106180	1965	1	2003												
115119		age	AGING	AGE		17	17q23	ACE	58908165	58952935		Da Cruz IB 2003	14528043				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The journals of gerontology Series A, Biological sciences and medical sciences. 2003 Sep;58(9):M851-6	Angiotensin I-converting enzyme gene polymorphism in two ethnic groups living in Brazil's southern region: association with age.		106180	1960	1	2003	 We cannot dismiss the possibility of the association between ACE polymorphism and age involving linkage disequilibrium, since the nature of this phenomenon is still controversial. From our studies, it appears that there is a correlation between age, ethnicity, and ACE polymorphism. More of such studies are warranted, as further investigation in this area will have a high clinical relevance to cardiovascular disease and aging research.											
115120		connective tissue dysplasias	OTHER	OTH	Connective Tissue Diseases	17	17q23	ACE	58908165	58952935		Kazakov VI 2003	14515472				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	St.Petersburg		KGB	1636	Hs.298469			Genetika. 2003 Aug;39(8):1136-40	Insertion-deletion polymorphism of the angiotensin converting enzyme gene and its relationship to serum levels of free amino acids in the patients with connective tissue dysplasias , trans Vliianie insertsionno-deletsionnogo polimorfizma v gene angiotenzi		106180	1961	1	2003												
115116	Y	myocardial ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Nikitin AG et al. 2003	12624945				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Moscow	Moscow	KGB	1636	Hs.298469			Molekuliarnaia biologiia. 2003 Jan-Feb;37(1):54-6	Association of the G7831A polymorphism of the ACE gene with myocardial ischemia in the Moscow population trans Assotsiatsiia polimorfnogo markera G7831A gena ACE s ishemicheskoi bolezn'iu serdtsa v Moskovskoi populiatsii.		106180	1957	1	2003												
115117	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	n	Hirashiki A 2003	14563588	Insertion/deletion in intron 16			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		106180	1958	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
115118		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q23	ACE	58908165	58952935		Haiman CA 2003	14583500				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Cancer research. 2003 Oct;63(20):6984-7	Genetic variation in angiotensin I-converting enzyme (ACE) and breast cancer risk: the multiethnic cohort.		106180	1959	1	2003												
115113	Y	polycystic kidney disease	RENAL	REN	Hypertension, Renal|Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lee KB et al. 2000	10983692				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Korea	KGB	1636	Hs.298469			Journal of Korean medical science. 2000 Aug;15(4):431-5	Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease.		106180	1954	1	2000												
115114		angiotensin I converting enzyme and cytokine gene polymorphisms	OTHER	OTH	Cystic Fibrosis	17	17q23	ACE	58908165	58952935		Arkwright PD et al. 2003	12554626				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of respiratory and critical care medicine. 2003 Feb;167(3):384-9	End-organ dysfunction in cystic fibrosis: association with angiotensin I converting enzyme and cytokine gene polymorphisms.		106180	1955	1	2003	We conclude that  the high-producer ACE genotype predicts patients with CF who have an increased chance of developing portal hypertension; and high-producer ACE and TGF-beta1 genotypes are secondary genetic factors contributing to pulmonary dysfunction in these patients.											
115115	Y	ARDS	OTHER	OTH	Respiratory Distress Syndrome, Adult|Acute Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	<0.02	Marshall RP 2002	12204859	I/D 287-bp alu repeat sequence. Intron 16			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	96 ARDS (Caucasian)		KGB	1636	Hs.298469	mortality		American journal of respiratory and critical care medicine. 2002 Sep;166(5):646-50			106180	1956	1	2002												
115110	Y	Blood Pressure	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Rankinen T 2000	10899077	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		TJB	1636	Hs.298469			American journal of physiology Heart and circulatory physiology. 2000 Jul;279(1):H368-74	AGT M235T and ACE ID polymorphisms and exercise blood pressure in the HERITAGE Family Study.		106180	1951	1	2000												
115111	Y	higher blood pressure after hospitalization in normotensi	OTHER	OTH		17	17q23	ACE	58908165	58952935		Uemura K et al. 2000	10821127				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension research. 2000 May;23(3):201-5	Deletion polymorphism of ACE gene is associated with higher blood pressure after hospitalization in normotensive subjects.		106180	1952	1	2000												
115112	Y	myocardial infarction	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Pinto YM et al. 1995	7759715				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1995 Jun;25(7):1622-6	Deletion-type allele of the angiotensin-converting enzyme gene is associated with progressive ventricular dilation after anterior myocardial infarction. Captopril and Thrombolysis Study Investigators.		106180	1953	1	1995	This exploratory study suggests that homozygosity for the angiotensin-converting enzyme deletion-type allele is associated with augmented neurohumoral activation as well as augmented cardiac dilation after an acute anterior myocardial infarction, an effect that may be susceptible to angiotensin-converting enzyme inhibition.											
115107	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Strojek K et al. 1995	8596758				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Poland	KGB	1636	Hs.298469			Pol Arch Med Wewn. 1995 Sep;94(3):214-8	Does an association between angiotensin I converting enzyme gene polymorphism and the prevalence of diabetic nephropathy in patients with diabetes type II exist? trans Czy istnieje zwiazek pomiedzy polimorfizmem genu konwertazy angiotensyny I a wystepoa		106180	1948	1	1995	We conclude that  the distribution of ACE gene polymorphism is similar in diabetic subjects and in general population and there is not association between I/D polymorphism and nephropathy in type II diabetic patients.											
115108	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	<0.001	Kehoe PG et al Nat Genet(1999), Vol.21, 71-72	9916793	Insertion Deletion polymorphism in intron 16	Plasma level variation	block deletion	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	UK Causcasion		Patrick Kehoe	1636	Hs.298469			Nature genetics. 1999 Jan;21(1):71-2	Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer's disease	N/A	106180	1949	1	1999		Case:542; Control:386										
115109	Y	heart rate variability	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935	0.043	Thayer JF 2003	14675596	HF HRV was highest in II, intermediate in ID, and lowest in DD (II vs DD)			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	African Americans		KGB	1636	Hs.298469	heart rate variability (HRV) determined by fast-Fourier transformation		The American journal of cardiology. 2003 Dec;92(12):1487-90	Effect of angiotensin-converting enzyme insertion/deletion polymorphism DD genotype on high-frequency heart rate variability in African Americans.		106180	1950	1	2003												
115104		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Dermatitis, Atopic|Hypersensitivity, Immediate	17	17q23	ACE	58908165	58952935		Holla L 1999	10200023	II. ID. DD			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Czech		KGB	1636	Hs.298469			The Journal of allergy and clinical immunology. 1999 Apr;103(4):702-8			106180	1945	1	1999	 It follows that the examined polymorphisms in the genes for ACE, angiotensinogen, and ET-1 could participate in the etiopathogenesis of atopic diseases.											
115105	Y	increased vascular reactivity	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Henrion D et al. 1999	10483967				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1999 Sep;34(3):830-6	The deletion genotype of the angiotensin I-converting enzyme is associated with an increased vascular reactivity in vivo and in vitro.		106180	1946	1	1999	 The DD genotype was associated with an increased reactivity to PE in vivo and potentiating effect of exogenous AII in vitro. The higher response to PE in vivo might reflect a higher potentiation by endogenous AII. These data should be considered to understand possible link(s) between cardiovascular disorders and the ACE gene polymorphism.											
115106	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Qiu C et al. 1998	11367719				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	KGB	1636	Hs.298469			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 1998 Apr;20(2):133-7	Deletion polymorphism in the angiotensin converting enzyme gene associated with essential hypertension in Hans Chinese population		106180	1947	1	1998	 The possession of D/D homozygote genotype of the ACE gene might be a marker for genetic susceptibility to Hans hypertension in Chinese.											
115101	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lin JJ et al. 2002	12084438				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Taiwan	KGB	1636	Hs.298469			Journal of the neurological sciences. 2002 Jul;199(2-Jan):25-9	Association between genetic polymorphism of angiotensin-converting enzyme gene and Parkinson's disease.		106180	1942	1	2002												
115102	Y	antiproteinuric effect of angiotensin I-converting enzyme inhibitors	OTHER	OTH	Proteinuria	17	17q23	ACE	58908165	58952935		Moriyama T et al. 1995	8749698				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American Society of Nephrology. 1995 Dec;6(6):1676-8	Association of angiotensin I-converting enzyme gene polymorphism with susceptibility to antiproteinuric effect of angiotensin I-converting enzyme inhibitors in patients with proteinuria.		106180	1943	1	1995												
115103	Y	elevated ACE	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Zhu X et al. 2000	11001581				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of human genetics. 2000 Nov;67(5):1144-53	Localization of a small genomic region associated with elevated ACE.		106180	1944	1	2000												
115098	Y	carotid wall thickening	CARDIOVASCULAR	CARD	Carotid Stenosis|Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis|Fibromuscular Dysplasia|Chromosome Deletion	17	17q23	ACE	58908165	58952935		Pujia A et al. 1996	8773433				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	healthy male	Italy	KGB	1636	Hs.298469			Coronary artery disease. 1996 Jan;7(1):51-5	Deletion polymorphism in angiotensin converting enzyme gene associated with carotid wall thickening in a healthy male population.		106180	1939	1	1996	 The present data suggest that the ACE gene seems to be a candidate gene that strongly influences the IMT of the arterial wall and might therefore be involved in the individual's predisposition to the development of atherosclerosis.											
115099		nephropathy development	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Grzeszczak W et al. 1997	9499204				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Pol Arch Med Wewn. 1997 Jul;98(7):19-25	Is PstI polymorphism of the angiotensin I converting enzyme gene associated with nephropathy development in non-insulin-dependent diabetes mellitus (preliminary study) trans Czy polimorfizm PstI genu enzymu konwertujacego laczy sie ze zwiekszonym ryzyki		106180	1940	1	1997												
115100	Y	leukoaraiosis	OTHER	OTH	Brain Infarction|Cerebral Arterial Diseases|Chromosome Deletion|Syndrome	17	17q23	ACE	58908165	58952935		Hassan A et al. 2002	11861692				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of neurology, neurosurgery, and psychiatry. 2002 Mar;72(3):343-6	Angiotensin converting enzyme insertion/deletion genotype is associated with leukoaraiosis in lacunar syndromes.		106180	1941	1	2002	 This study supports the hypothesis that there may be different types of small vessel disease in patients with classic lacunar syndromes and that the influence of the ACE DD genotype may be relevant in mediating the diffuse form of vessel injury.											
115095	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Pujia A et al. 1994	7807499				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of human hypertension. 1994 Sep;8(9):687-91	Association between ACE-D/D polymorphism and hypertension in type II diabetic subjects.		106180	1936	1	1994												
115096	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Crawford F et al. 2000	10675799				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Florida	KGB	1636	Hs.298469			Neuroscience letters. 2000 Feb;280(3):215-9	Gender-specific association of the angiotensin converting enzyme gene with Alzheimer's disease.		106180	1937	1	2000												
115097	Y	early onset ischemic heart disease.	CARDIOVASCULAR	CARD	Myocardial Ischemia	17	17q23	ACE	58908165	58952935		Biggart S et al. 1998	9825196				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical cardiology. 1998 Nov;21(11):831-6	Association of genetic polymorphisms in the ACE ApoE and TGF beta genes with early onset ischemic heart disease.		106180	1938	1	1998	 The frequency of the ACE D allele was significantly lower in the patient group (0.475) than in the control group (0.59, p = 0.03), which was attributed to a reduction in the number of patients with the DD genotype (patients: 24% DD, controls: 33% DD). Sudden cardiac death was also associated with the DD genotype. These data are consistent with the ACE D allele contributing to a fatal outcome. No association between the DD genotype and risk of myocardial infarction, presenting age, extent of vessel disease, family history, hypertension, or hypercholesterolemia was seen. Analysis of the ApoE genotype showed no association with early onset IHD. There was no evidence for a synergistic effect between the ACE and ApoE genotypes on the risk of early onset IHD. A polymorphism in the TGF beta 2 gene was rare and not associated with early onset IHD.											
115092		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Papadopoulos KI et al. 2000	10672133				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of internal medicine. 2000 Jan;247(1):71-7	Angiotensin converting enzyme (ACE) gene polymorphism in sarcoidosis in relation to associated autoimmune diseases.		106180	1933	1	2000	 We confirmed that the S-ACE levels corresponded to the order II < ID < DD in patients with sarcoidosis as well as in healthy controls. S-ACE levels were significantly higher in sarcoidosis patients with autoimmune manifestations. The frequency of the DD genotype was significantly increased in patients with autoimmune manifestations and major granuloma mass (X-ray stage III). The ACE D allele in its homozygous form may confer susceptibility for autoimmune manifestations in sarcoidosis, possibly via the high levels of S-ACE it encodes.											
115093	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Ohishi M et al. 1994	7993479				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The New England journal of medicine. 1994 Oct;331(16):1097-8	Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy.		106180	1934	1	1994												
115094	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Espinosa JS et al. 1998	9611729				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Med Clin (Barc). 1998 Apr;110(13):488-91	Association between myocardial infarction and angiotensin converting enzyme gene polymorphism in young patients trans Asociacion entre polimorfismo insercion/delecion del gen codificador de la enzima conversiva de la angiotensina e infarto de miocardio		106180	1935	1	1998	 In our population DD ACE genotype is associated with MI in young patients, although smoking, family history and hypercholesterolemia show a more powerful association.											
115089	N	Asthma	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935	n	Winchester 2000	11153913	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Asia|Great Britain	KCB	1636	Hs.298469			Human genetics. 2000 Dec;107(6):591-6			106180	1930	1	2000												
115091	Y	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Bengtsson K et al. 1999	10608470				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of hypertension. 1999 Nov;17(11):1569-75	Polymorphism in the angiotensin converting enzyme but not in the angiotensinogen gene is associated with hypertension and type 2 diabetes: the Skaraborg Hypertension and diabetes project.		106180	1932	1	1999	 The D-allele of the ACE gene ID polymorphism increases susceptibility to hypertension, particularly when associated with type 2 diabetes. No association was observed between the M235T variant or 3'-microsatellite polymorphism of the AGT gene and hypertension.											
115086	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935	p<0.00001	Batalla A 2000	11106322	1166A/C			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			TJB	1636	Hs.298469			Clinical chemistry. 2000 Dec;46(12):1910-5			106180	1927	1	2000	 Our data suggest a synergistic effect between the APOE and AGT polymorphisms and early MI. The increased risk could be mediated in part through higher cholesterol concentrations among individuals who are AGT-TT + APOE epsilon4 allele carriers.	Case:220; Control:200										
115087	Y	Systemic Lupus Erythematosus (SLE)	IMMUNE	IMM	Lupus Nephritis|Cardiovascular Abnormalities|Lupus Erythematosus, Systemic|Lupus Nephritis	17	17q23	ACE	58908165	58952935	?	Uhm WS 2002	12043886	I			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Korean	Korea	KGB	1636	Hs.298469			Lupus. 2002 ;11(4):227-33			106180	1928	1	2002		Case:211; Control:114										
115088	Y	endurance performance	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935	0.004	Woods D 2001	11354635	D allele		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	swimmers vs age matched military recruits		KGB	1636	Hs.298469	elite swimming		Human genetics. 2001 Mar;108(3):230-2			106180	1929	1	2001		Case:120; Control:1248										
115083	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Chowdhury AH et al. 1998	10874368				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Bangladeshi	Bangladesh	KGB	1636	Hs.298469			Bangladesh Medical Research Council bulletin. 1998 Dec;24(3):55-9	Association of angiotensin converting enzyme (ACE) gene polymorphism with hypertension in a Bangladeshi population.		106180	1924	1	1998												
115084	N	asthma and atopy	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935	n	Gao PS et al. 1998	9788731				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan|Great Britain	KGB	1636	Hs.298469			Clinical genetics. 1998 Sep;54(3):245-7	Lack of association between ACE gene polymorphisms and atopy and asthma in British and Japanese populations.		106180	1925	1	1998												
115085		clinicopathologic findings	OTHER	OTH	Glomerulonephritis, IGA|Proteinuria	17	17q23	ACE	58908165	58952935		Tanaka R et al. 1998	9590186				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of kidney diseases. 1998 May;31(5):774-9	ACE gene polymorphism in childhood IgA nephropathy: association with clinicopathologic findings.		106180	1926	1	1998												
115080		renal artery stenosis	OTHER	OTH	Renal Artery Obstruction|Coronary Disease|Arteriosclerosis|Peripheral Vascular Diseases	17	17q23	ACE	58908165	58952935		Missouris CG et al. 1996	8821841				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Kidney international. 1996 Feb;49(2):534-7	Genetic risk for renal artery stenosis: association with deletion polymorphism in angiotensin 1-converting enzyme gene.		106180	1921	1	1996												
115081	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Araz M et al. 2001	11367888				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	KGB	1636	Hs.298469			Acta Medica (Hradec Kralove). 2001 ;44(1):29-32	Association between polymorphism of the angiotensin I converting enzyme gene and hypertension in Turkish type II diabetic patients.		106180	1922	1	2001												
115082	Y	PMV after CABG	OTHER	OTH	Postoperative Complications	17	17q23	ACE	58908165	58952935	<0.02	Yende S 2002	12114366	I/D 250-bp			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	400 CABG pts		KGB	1636	Hs.298469			Chest. 2002 Jul;122(1):245-52			106180	1923	1	2002	 The causes of PMV are heterogeneous, vary with time, and have a variable impact on the duration of mechanical ventilation required after the patient undergoes CABG surgery.											
115078	Y	serum ACE concentration and CAD	OTHER	OTH	Coronary Disease	17	17q23	ACE	58908165	58952935		Nakai K et al. 1994	7955173				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Circulation. 1994 Nov;90(5):2199-202	Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with serum ACE concentration and increased risk for CAD in the Japanese.		106180	1919	1	1994												
115079	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Stenosis	17	17q23	ACE	58908165	58952935		Pfohl M et al. 1998	9733227				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Atherosclerosis. 1998 Sep;140(1):161-6	Association between angiotensin I-converting enzyme genotypes extracranial artery stenosis and stroke.		106180	1920	1	1998												
115074		left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Lindpaintner K et al. 1996	8598840				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The New England journal of medicine. 1996 Apr;334(16):1023-8	Absence of association or genetic linkage between the angiotensin-converting-enzyme gene and left ventricular mass.		106180	1915	1	1996	The ACE genotype showed no association with echocardiographically determined left ventricular mass, nor did it confer an increased risk of left ventricular hypertrophy. We found no appreciable role of the ACE gene in influencing left ventricular mass.											
115075	Y	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Keavney BD et al. 1995	7589881				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Great Britain	KGB	1636	Hs.298469	myocardial infaction		Diabetologia. 1995 Aug;38(8):948-52	UK prospective diabetes study (UKPDS) 14: association of angiotensin-converting enzyme insertion/deletion polymorphism with myocardial infarction in NIDDM.		106180	1916	1	1995												
115076	Y	Exercise-induced changes in insulin	AGING	AGE	Hypertension	17	17q23	ACE	58908165	58952935		Dengel DR et al. 2002	12388790				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	older adults		Physiological genomics. 2002 Oct;11(2):73-80	Exercise-induced changes in insulin action are associated with ACE gene polymorphisms in older adults.		106180	1917	1	2002												
115071	Y	endothelial dysfunction in normal humans.	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Butler R et al. 1999	10334805				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension. 1999 May;33(5):1164-8	DD angiotensin-converting enzyme gene polymorphism is associated with endothelial dysfunction in normal humans.		106180	1912	1	1999												
115072	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	17	17q23	ACE	58908165	58952935		Viitanen L et al. 2001	11427204			promoter	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Finland	KGB	1636	Hs.298469			Atherosclerosis. 2001 Jul;157(1):57-64	Association of angiotensin converting enzyme and plasminogen activator inhibitor-1 promoter gene polymorphisms with features of the insulin resistance syndrome in patients with premature coronary heart disease.		106180	1913	1	2001	In conclusion, the ACE and PAI-1 gene polymorphisms are not linked with early-onset CHD. However, the ACE gene polymorphism is associated with features of the insulin resistance syndrome.	Control:110 healthy controls;Case:118 families with premature and severe coronary heart:disease										
115073	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Gardemann A et al. 1998	9863550				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Atherosclerosis. 1998 Nov;141(1):167-75	Association of the insertion/deletion gene polymorphism of the apolipoprotein B signal peptide with myocardial infarction.		106180	1914	1	1998												
115068	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935	n	Fujimura T et al. 1997	9443774				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		KGB	1636	Hs.298469			American journal of hypertension. 1997 Dec;10(12 Pt 1):1384-90	Lack of association of angiotensin converting enzyme gene polymorphism or serum enzyme activity with coronary artery disease in Japanese subjects.		106180	1909	1	1997												
115069		schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Mood Disorders|Schizophrenia	17	17q23	ACE	58908165	58952935		Segman RH et al. 2002	11920854				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of medical genetics. 2002 Apr;114(3):310-4	Angiotensin converting enzyme gene insertion/deletion polymorphism: case-control association studies in schizophrenia major affective disorder and tardive dyskinesia and a family-based association study in schizophrenia.		106180	1910	1	2002												
115070	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Hypertension	17	17q23	ACE	58908165	58952935		Wu C et al. 2002	12362316				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		KGB	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):401-4	The association between angiotensin I converting enzyme gene polymorphism and Chinese late onset Alzheimer disease		106180	1911	1	2002	 ACE genotypes associated with the risk of AD, but II genotype as risk genetic factor only restricted in subjects with high blood pressure.											
115065	Y	coronary heart disease in non-insulin-dependent diabetic	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Huang XH et al. 1998	9781631				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Metabolism:  clinical and experimental. 1998 Oct;47(10):1258-62	Angiotensin-converting enzyme gene polymorphism is associated with coronary heart disease in non-insulin-dependent diabetic patients evaluated for 9 years.		106180	1906	1	1998												
115066	Y	angiotensin-converting enzyme genotype	CARDIOVASCULAR	CARD	Cardiac Output, Low|Cardiomyopathy, Dilated	17	17q23	ACE	58908165	58952935		Candy GP et al. 1999	10080429				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The American journal of cardiology. 1999 Mar;83(5):740-4	Association of left ventricular systolic performance and cavity size with angiotensin-converting enzyme genotype in idiopathic dilated cardiomyopathy.		106180	1907	1	1999												
115067	N	serum lipid levels	OTHER	OTH	Arteriosclerosis	17	17q23	ACE	58908165	58952935	n	Glisic S et al. 1997	9247728				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	healthy Serbian	Yugoslavia	KGB	1636	Hs.298469			Clinica chimica acta; international journal of clinical chemistry. 1997 Jul;263(1):57-65	Study of apoB gene signal peptide insertion/deletion polymorphism in a healthy Serbian population: no association with serum lipid levels.		106180	1908	1	1997												
115062	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Miloserdova OV et al. 2001	11234416	I?D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Russia	KGB	1636	Hs.298469			Genetika. 2001 Jan;37(1):112-6	Association between insertion-deletion polymorphism of the angiotensin-converting enzyme gene and development of angiopathies in patients with non-insulin dependent diabetes mellitus from the Chuvash Republic trans Assotsiatsiia mezhdu insertsionno-dele		106180	1903	1	2001												
115063	N	cerebral infarction.	CARDIOVASCULAR	CARD	Cerebral Infarction	17	17q23	ACE	58908165	58952935	n	Rahmutula D et al. 2000	10770265			intron	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension research. 2000 Mar;23(2):173-6	An insertion/deletion polymorphism in intron 18 of the type B human natriuretic peptide receptor gene is not associated with cerebral infarction.		106180	1904	1	2000												
115064	Y	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Gharavi AG et al. 1996	8677872				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The American journal of cardiology. 1996 Jun;77(15):1315-9	Deletion polymorphism of the angiotensin-converting enzyme gene is independently associated with left ventricular mass and geometric remodeling in systemic hypertension.		106180	1905	1	1996												
115059	N	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Arca M et al. 1998	9693941				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Italian	Italy	KGB	1636	Hs.298469			European journal of clinical investigation. 1998 Jun;28(6):485-90	Angiotensin-converting enzyme gene polymorphism is not associated with coronary atherosclerosis and myocardial infarction in a sample of Italian patients.		106180	1900	1	1998	 Our study did not provide evidence of a significant association between ACE genotypes and the development of coronary atherosclerosis. It also failed to support a role of ACE I/D polymorphism in favouring the conversion of coronary stenosis to MI.											
115060	N	restenosis after coronary stent placement	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Thrombosis|Constriction, Pathologic|Genetic Predisposition to Disease|Recurrence	17	17q23	ACE	58908165	58952935	n	Koch W et al. 2000	10889131	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Circulation. 2000 Jul;102(2):197-202	Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene is not associated with restenosis after coronary stent placement.		106180	1901	1	2000	 The ACE DD genotype or D allele does not influence the 1-year clinical and angiographic outcome of patients undergoing coronary stent placement. These data suggest that routine determination of the ACE genotype may not help identify patients who are at a higher risk of thrombotic and restenotic events after coronary stent placement.											
115061	N	peripheral vascular disease	CARDIOVASCULAR	CARD	Peripheral Vascular Diseases|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935	n	Tseng CH et al. 2002	12419932				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Taiwan	KGB	1636	Hs.298469			Circulation journal. 2002 Nov;66(11):1014-8	Lack of association between angiotensin-converting enzyme gene polymorphism and peripheral vascular disease in type 2 diabetic patients in Taiwan.		106180	1902	1	2002												
115056	Y	insulin sensitivity	METABOLIC	MET	Insulin Resistance	17	17q23	ACE	58908165	58952935		Thamer C et al. 2002	11755945				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Atherosclerosis. 2002 Jan;160(1):257-8	Association of the ACE gene I/D polymorphism with insulin sensitivity depends on the presence of additional macroangiopathic risk factors.		106180	1897	1	2002												
115057	Y	angiotensin-converting enzyme inhibitor-related cough	OTHER	OTH	Cough|Proteinuria|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lee YJ et al. 2001	11699055				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	Taiwan	KGB	1636	Hs.298469			Metabolism:  clinical and experimental. 2001 Nov;50(11):1346-50	Angiotensin-converting enzyme gene insertion/deletion not bradykinin B2 receptor -58T/C gene polymorphism associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus.		106180	1898	1	2001	In conclusion, our results indicate that Chinese diabetic female subjects are susceptible to ACEI-related cough, and this susceptibility may be genetically predetermined.	Cohort 189 Chinese non-insulin-dependent diabetes mellitus (NIDDM) patients with proteinuria or hypertension treated with perindopril were studied.										
115058	Y	reflux nephropathy	OTHER	OTH	Vesico-Ureteral Reflux	17	17q23	ACE	58908165	58952935		Park HW et al. 2000	10971153				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Nephron. 2000 Sep;86(1):52-5	Association of angiotensin I converting enzyme gene polymorphism with reflux nephropathy in children.		106180	1899	1	2000	We conclude that  deletion polymorphism of ACE gene, as an independent variable, is not associated with reflux nephropathy in children with vesicoureteral reflux.											
115053	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935	n	Chiang FT et al. 1997	9037328				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	KGB	1636	Hs.298469			American journal of hypertension. 1997 Feb;10(2):197-201	Lack of association of the angiotensin converting enzyme polymorphism with essential hypertension in a Chinese population.		106180	1894	1	1997	We conclude that  the ACE gene polymorphism is not associated with essential hypertension in this Chinese population, but plasma ACE activity is genetically determined in the normotensive Chinese.											
115054		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Gesang L et al. 2002	12135330				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Tibetan	Tibet	KGB	1636	Hs.298469			Hypertension research. 2002 May;25(3):481-5	Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population.		106180	1895	1	2002												
115055	Y	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA|Sclerosis	17	17q23	ACE	58908165	58952935		Asano T et al. 1999	10404693				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		KGB	1636	Hs.298469			Clinical nephrology. 1999 Jun;51(6):335-40	Association of angiotensin-converting enzyme gene polymorphism and renal pathology in Japanese children with IgA nephropathy.		106180	1896	1	1999	We conclude that  ACE gene polymorphism may be correlated with the prognosis of IgA nephropathy in Japanese children.											
115050	N	immunoglobulin A glomerulonephritis	IMMUNE	IMM	Glomerulonephritis, IGA	17	17q23	ACE	58908165	58952935	n	Schmidt S et al. 1995	7485124				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of kidney diseases. 1995 Nov;26(5	No association of converting enzyme insertion/deletion polymorphism with immunoglobulin A glomerulonephritis.		106180	1891	1	1995												
115051	Y	angiotensin-converting enzyme inhibitors	OTHER	OTH	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Kohno M et al. 1999	10335726				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The American journal of medicine. 1999 May;106(5):544-9	Association between angiotensin-converting enzyme gene polymorphisms and regression of left ventricular hypertrophy in patients treated with angiotensin-converting enzyme inhibitors.		106180	1892	1	1999	 Hypertensive patients with the DD genotype are less likely to have regression of left ventricular hypertrophy when treated with ACE inhibitors than are patients with other ACE genotypes.											
115052	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935	n	Frossard PM et al. 1997	9137889				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Gulf Arab		KGB	1636	Hs.298469			Clinical genetics. 1997 Mar;51(3):211-3	Deletion polymorphism in the angiotensin-converting enzyme gene is not associated with hypertension in a Gulf Arab population.		106180	1893	1	1997												
115047	N	infertility	REPRODUCTION	REP	Infertility, Male	17	17q23	ACE	58908165	58952935	n	Liao WX et al. 2002	11870238				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Asian	Singapore	KGB	1636	Hs.298469			Molecular human reproduction. 2002 Mar;8(3):299-303	Lack of association between polymorphisms in the testis-specific angiotensin converting enzyme gene and male infertility in an Asian population.		106180	1888	1	2002												
115049	Y	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2|Sclerosis	17	17q23	ACE	58908165	58952935		Taniwaki H et al. 1999	10546020				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetes care. 1999 Nov;22(11):1858-64	Association of ACE gene polymorphism with arterial stiffness in patients with type 2 diabetes.		106180	1890	1	1999	 These results suggested that ACE polymorphism is associated with the impairment of aortic and carotid distensibility in patients with type 2 diabetes.											
115044	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Disease Progression	17	17q23	ACE	58908165	58952935		Pethig K et al. 2000	11124487				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The Journal of heart and lung transplantation. 2000 Dec;19(12):1175-82	ACE-gene polymorphism is associated with the development of allograft vascular disease in heart transplant recipients.		106180	1885	1	2000	 In this large cohort study, we demonstrated a close relationship between the recipient-related ACE-D genotype and development of advanced CAVD. These observations suggest that gene-environment interactions might be clinically important in coronary vasculopathy after HTX.											
115045		ACE concentration and blood pressure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Zhu X et al. 2001	11283791				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Nigeria	KGB	1636	Hs.298469	ACE Concentration		American journal of human genetics. 2001 May;68(5):1139-48	Linkage and association analysis of angiotensin I-converting enzyme (ACE)-gene polymorphisms with ACE concentration and blood pressure.		106180	1886	1	2001												
115046		diabetic retinopathy	RENAL	REN	Diabetic Retinopathy|Albuminuria|Diabetes Mellitus, Type 2|Disease Progression	17	17q23	ACE	58908165	58952935		Matsumoto A et al. 2000	11106834				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetes research and clinical practice. 2000 Dec;50(3):195-202	Detection of the association between a deletion polymorphism in the gene encoding angiotensin I-converting enzyme and advanced diabetic retinopathy.		106180	1887	1	2000												
115041	Y	non-ST-elevation acute coronary syndromes	CARDIOVASCULAR	CARD	Myocardial Ischemia|Angina, Unstable|Syndrome	17	17q23	ACE	58908165	58952935		Kennon S et al. 2001	11527624				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	reduced troponin release		Journal of the American College of Cardiology. 2001 Sep;38(3):724-8	Angiotensin-converting enzyme inhibition is associated with reduced troponin release in non-ST-elevation acute coronary syndromes.		106180	1882	1	2001	 We conclude that ACE inhibition reduces troponin release in non-ST-elevation ACS. This is likely to be mediated by the beneficial effects of treatment on vascular reactivity and the coagulation system.											
115042	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Winkelmann BR et al. 1996	8644984				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Annals of internal medicine. 1996 Jul;125(1):19-25	Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with increased plasma angiotensin-converting enzyme activity but not with increased risk for myocardial infarction and coronary artery disease.		106180	1883	1	1996	 In an angiographically defined study sample, ACE I/D gene polymorphism was not associated with an increased risk for coronary artery disease or myocardial infarction, despite its effects on plasma ACE activity.											
115043	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q23	ACE	58908165	58952935	n	Lin JJ et al. 2000	11155741				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Taiwan	KGB	1636	Hs.298469			Journal of the Formosan Medical Association. 2000 Dec;99(12):895-901	Lack of association between angiotensin I-converting enzyme gene deletion polymorphism and cerebrovascular disease in Taiwanese.		106180	1884	1	2000	 Our results suggest that deletion polymorphism of the ACE gene is not associated with the pathogenesis of cerebrovascular disease in Taiwanese.											
115038	Y	coronary artery plaque calcification	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Pfohl M et al. 1998	9561998				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1998 Apr;31(5):987-91	Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene is associated with coronary artery plaque calcification as assessed by intravascular ultrasound.		106180	1879	1	1998	 Patients with CAD and the ACE DD genotype have a significantly higher incidence and greater extent of coronary lesion calcification, as determined by IVUS. This finding indicates that the ACE I/D gene polymorphism is related to the development or progression of atherosclerotic plaque calcification.											
115039	Y	circulating levels of plasminogen activator inhibitor-1	OTHER	OTH	Coronary Disease|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Obesity	17	17q23	ACE	58908165	58952935		Kim DK et al. 1997	9409318				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Korea	KGB	1636	Hs.298469			Arteriosclerosis, thrombosis, and vascular biology. 1997 Nov;17(11):3242-7	Polymorphism of angiotensin converting enzyme gene is associated with circulating levels of plasminogen activator inhibitor-1.		106180	1880	1	1997												
115040	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Hu J et al. 1999	10643899				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Neuroscience letters. 1999 Dec;277(1):65-7	Angiotensin-converting enzyme genotype is associated with Alzheimer disease in the Japanese population.		106180	1881	1	1999												
115036		macroangiopathy and blood pressure	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Ukkola O et al. 1995	7583453				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of molecular medicine (Berlin, Germany). 1995 Jun;73(6):307-11	Insertion/deletion polymorphism in the angiotensin-converting enzyme gene associated with macroangiopathy and blood pressure in patients with non-insulin-dependent diabetes mellitus.		106180	1877	1	1995												
115037		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Kuznetsova T et al. 2000	10918550	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	left ventricular hypertrophy		Journal of human hypertension. 2000 Jul;14(7):447-54	Antihypertensive treatment modulates the association between the D/I ACE gene polymorphism and left ventricular hypertrophy: a meta-analysis.		106180	1878	1	2000												
115032	N	endothelial dysfunction in subjects	OTHER	OTH	Coronary Artery Disease|Hyperemia	17	17q23	ACE	58908165	58952935	n	Celermajer DS et al. 1994	7840807				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Atherosclerosis. 1994 Nov;111(1):121-6	Angiotensin-converting enzyme genotype is not associated with endothelial dysfunction in subjects without other coronary risk factors.		106180	1873	1	1994												
115033	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Samani NJ et al. 1996	8772692				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	KGB	1636	Hs.298469			Circulation. 1996 Aug;94(4):708-12	A meta-analysis of the association of the deletion allele of the angiotensin-converting enzyme gene with myocardial infarction.		106180	1874	1	1996	 Within the limitations of the available data, the meta-analysis therefore supports an association of the ACE D allele with MI risk and strengthens the justification for further evaluation in appropriately powered studies.											
115034	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	ACE	58908165	58952935	n	Al-Fakhri N et al. 2003	12574792				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of human hypertension. 2003 Feb;17(2):133-8	Endothelin-1 and vasopressin plasma levels are not associated with the insertion/deletion polymorphism of the human angiotensin I-converting enzyme gene in patients with coronary artery disease.		106180	1875	1	2003												
115029	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q23	ACE	58908165	58952935	n	Mellick GD et al. 1999	10023114				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European neurology. 1999 ;41(2):103-6	The ACE deletion polymorphism is not associated with Parkinson's disease.		106180	1870	1	1999												
115031	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Celentano A et al. 1996	8983828				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Cardiologia (Rome, Italy). 1996 Oct;41(10):995-1000	Absence of an association of the D allele of the ACE gene with arterial pressure in mild-moderate essential arterial hypertension trans Assenza di associazione tra allele D del gene dell'ACE e pressione arteriosa nell'ipertensione arteriosa essenziale l		106180	1872	1	1996												
115026	Y	metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	17	17q23	ACE	58908165	58952935		Lee YJ et al. 2002	12032106				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China|Taiwan	KGB	1636	Hs.298469			Diabetes care. 2002 Jun;25(6):1002-8	ACE gene insertion/deletion polymorphism associated with 1998 World Health Organization definition of metabolic syndrome in Chinese type 2 diabetic patients.		106180	1867	1	2002	 The ACE I/D polymorphism was found to be associated with metabolic syndrome in Chinese patients with type 2 diabetes. This finding may provide genetic evidence to explain the clustering of metabolic syndrome and suggests that the renin-angiotensin system is involved in the pathophysiology of metabolic derangement in patients with type 2 diabetes.											
115027	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Chiang FT et al. 1997	9201110				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	KGB	1636	Hs.298469			Japanese heart journal. 1997 Mar;38(2):227-36	Lack of association between angiotensin-converting enzyme gene polymorphism and coronary heart disease in a Chinese population.		106180	1868	1	1997												
115028		cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Young RP et al. 1998	9920000				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of cardiovascular risk. 1998 Oct-Dec;5(6-May):303-7	Interethnic differences in coronary heart disease mortality in 25 populations: association with the angiotensin-converting enzyme DD genotype frequency.		106180	1869	1	1998	 We hypothesize that differences in the frequency of the ACE DD genotype in populations with low mean serum cholesterol concentrations may play some part in determining interethnic differences in CHD mortality rates.											
115023	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Schmidt S et al. 1995	7783416				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Kidney international. 1995 Apr;47(4):1176-81	Association of ACE gene polymorphism and diabetic nephropathy? The Diabetic Nephropathy Study Group.		106180	1864	1	1995	We conclude that  no significant association between I/D polymorphism and nephropathy was demonstrable in either type 1 or type 2 diabetes, despite considerable statistical power of the patient sample and adequate duration of diabetes for nephropathy to become manifest.											
115024	N	left-ventricular hypertrophy	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935	n	Yildiz A et al. 2000	10657713				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Nephron. 2000 Feb;84(2):130-5	No association between deletion-type angiotensin-converting enzyme gene polymorphism and left-ventricular hypertrophy in hemodialysis patients.		106180	1865	1	2000												
115025		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Proteinuria|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Doi Y et al. 1996	8720609				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469	microvascular complications		Diabetologia. 1996 Jan;39(1):97-102	Association between a polymorphism in the angiotensin-converting enzyme gene and microvascular complications in Japanese patients with NIDDM.		106180	1866	1	1996												
115020	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Farrer LA et al. 2000	10681079				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Ontario|Moscow	KGB	1636	Hs.298469			Archives of neurology. 2000 Feb;57(2):210-4	Association between angiotensin-converting enzyme and Alzheimer disease.		106180	1861	1	2000	 Our results suggest that APOE and ACE genotypes may be independent risk factors for late-onset AD, but the ACE association needs to be confirmed in independent samples in which the time and extent of vascular cofactors can be assessed.											
115021	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935	n	Monastero R et al. 2002	12459519				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuroscience letters. 2002 Dec;335(2):147-9	Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease.		106180	1862	1	2002												
115022	Y	obstetric cholestasis	OTHER	OTH	Cholestasis|Pregnancy Complications|Pre-Eclampsia	17	17q23	ACE	58908165	58952935		Heiskanen JT et al. 2001	11568784				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of obstetrics and gynecology. 2001 Sep;185(3):600-3	Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia.		106180	1863	1	2001	 The present data indicate that the DD genotype is a genetic marker associated with an elevated risk of obstetric cholestasis, but this polymorphism of the angiotensin-converting enzyme gene is unlikely to play any significant role in preeclampsia.											
115017	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Blood Coagulation Disorders	17	17q23	ACE	58908165	58952935		Makris TK et al. 2000	11054622				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American heart journal. 2000 Nov;140(5):760-5	ACE/DD genotype is associated with hemostasis balance disturbances reflecting hypercoagulability and endothelial dysfunction in patients with untreated hypertension.		106180	1858	1	2000	 Our findings suggest that the ACE/DD genotype is associated with hemostasis balance disturbances reflecting hypercoagulability and endothelial damage in patients with untreated hypertension.											
115018	Y	sarcoidosis.	OTHER	OTH	Lung Diseases|Sarcoidosis	17	17q23	ACE	58908165	58952935		Marshall BG et al. 1998	9713438				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Thorax. 1998 Jun;53(6):439-40	Association between angiotensin II receptor gene polymorphism and serum angiotensin converting enzyme (SACE) activity in patients with sarcoidosis.		106180	1859	1	1998												
115019	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Popov V et al. 1996	8895041				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Russia	KGB	1636	Hs.298469			Journal of human hypertension. 1996 Aug;10(8):557-9	Absence of association between the angiotensin-converting enzyme gene polymorphism and borderline hypertension in men of St Petersburg Russia.		106180	1860	1	1996												
115014	Y	Aortic atherosclerosis in diabetes mellitus	OTHER	OTH	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Rasmussen LM et al. 1996	8781765				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetologia. 1996 Jun;39(6):696-700	Aortic atherosclerosis in diabetes mellitus is associated with an insertion/deletion polymorphism in the angiotensin I-converting enzyme gene. No relation between the polymorphism and aortic collagen content.		106180	1855	1	1996												
115015	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Tiret L et al. 1993	8096947				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		France|Northern Ireland	KGB	1636	Hs.298469			Lancet. 1993 Apr;341(8851):991-2	Deletion polymorphism in angiotensin-converting enzyme gene associated with parental history of myocardial infarction.		106180	1856	1	1993												
115016	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Zhang B et al. 2002	12372063				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical genetics. 2002 Oct;62(4):328-33	Association of angiotensin-converting-enzyme gene polymorphism with the depressor response to mild exercise therapy in patients with mild to moderate essential hypertension.		106180	1857	1	2002												
115011	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Cheng CY et al. 2002	11803189				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European neurology. 2002 ;47(1):26-9	Study of the association between Alzheimer's disease and angiotensin-converting enzyme gene polymorphism using DNA from lymphocytes.		106180	1852	1	2002												
115012		end-stage renal disease	OTHER	OTH	Polycystic Kidney Diseases|Kidney Failure, Chronic|Disease Progression	17	17q23	ACE	58908165	58952935		Hashimoto K et al. 1998	9594551				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Nippon Ika Daigaku zasshi. 1998 Apr;65(2):155-60	Association analysis of angiotensin-converting enzyme gene polymorphism with end-stage renal disease		106180	1853	1	1998	 The frequencies for II, ID, and DD genotypes were 134, 148 and 44, respectively. The frequency for I allele was 0.64, and for D allele 0.36. These results were similar to the frequencies found in the normal Japanese population. However, patients with polycystic kidney disease (PKD) showed a high frequency for D allele (0.54: p = 0.023 by chi 2 method). In longitudinal courses, we did not find any association between ACE gene polymorphism and the declining rate of renal function. However, in patients with PKD, the DD genotype may influence the clinical course of renal disease.											
115013	Y	nephroangiosclerosis	OTHER	OTH	Hypertension, Renal|Nephrosclerosis	17	17q23	ACE	58908165	58952935		Mallamaci F et al. 2000	10821348				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of hypertension. 2000 Apr;13(4 Pt 1):433-7	The deletion polymorphism of the angiotensin-converting enzyme is associated with nephroangiosclerosis.		106180	1854	1	2000												
115008	Y	atrial natriuretic peptide activity after exercise	OTHER	OTH		17	17q23	ACE	58908165	58952935		Friedl W et al. 1998	9694588				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinica chimica acta; international journal of clinical chemistry. 1998 Jun;274(2):199-211	Insertion/deletion polymorphism in the angiotensin-converting enzyme gene is associated with atrial natriuretic peptide activity after exercise.		106180	1849	1	1998												
115009	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23	ACE	58908165	58952935		Yang JD et al. 2000	11078932				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	KGB	1636	Hs.298469			Neuroscience letters. 2000 Dec;295(2-Jan):41-4	Association between angiotensin-converting enzyme gene and late onset Alzheimer's disease in Han chinese.		106180	1850	1	2000	We conclude that  ACE genotype is a risk factor for late onset AD.											
115010		angiotensin-converting enzyme gene polymorphism	OTHER	OTH	Aortic Aneurysm, Abdominal|Hypertension	17	17q23	ACE	58908165	58952935		Pola R et al. 2001	11352521				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European journal of vascular and endovascular surgery. 2001 May;21(5):445-9	Abdominal aortic aneurysm in normotensive patients: association with angiotensin-converting enzyme gene polymorphism.		106180	1851	1	2001	 our data suggest a role for ACE I/D gene polymorphism in the pathogenesis of AAA in normotensive patients.											
115005	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	17	17q23	ACE	58908165	58952935	n	Furlong RA et al. 2000	11121171				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of medical genetics. 2000 Dec;96(6):733-5	No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders.		106180	1846	1	2000												
115006	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Feng Y et al. 2002	12031990				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	KGB	1636	Hs.298469			Diabetes. 2002 Jun;51(6):1986-8	Insertion/deletion polymorphism of the ACE gene is associated with type 2 diabetes.		106180	1847	1	2002												
115007	Y	affective disorder	PSYCH	PSY	Mood Disorders|Schizophrenia	17	17q23	ACE	58908165	58952935		Arinami T et al. 1996	8931914				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Biological psychiatry. 1996 Dec;40(11):1122-7	An insertion/deletion polymorphism in the angiotensin converting enzyme gene is associated with both brain substance P contents and affective disorders.		106180	1848	1	1996												
115002	Y	left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Montgomery HE et al. 1997	9264477				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	physical training		Circulation. 1997 Aug;96(3):741-7	Association of angiotensin-converting enzyme gene I/D polymorphism with change in left ventricular mass in response to physical training.		106180	1843	1	1997	 Exercise-induced LV growth in young males is strongly associated with the ACE I/D polymorphism.											
115003	Y	alcoholism	CHEMDEPENDENCY	CHEM	Cardiomyopathy, Alcoholic|Ventricular Dysfunction, Left|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Fernandez-Sola J et al. 2002	12204015				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Annals of internal medicine. 2002 Sep;137(5 Part 1):321-6	Angiotensin-converting enzyme gene polymorphism is associated with vulnerability to alcoholic cardiomyopathy.		106180	1844	1	2002	 Vulnerability to cardiomyopathy among chronic alcohol abusers is partially genetic and is related to presence of the ACE DD genotype. This finding demonstrates genetic susceptibility to alcohol-induced myocardial damage.											
115004		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant	17	17q23	ACE	58908165	58952935		Turco AE et al. 1997	9399039				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Europe	KGB	1636	Hs.298469			Contributions to nephrology. 1997 ;122:53-7	Molecular genetic investigations in autosomal dominant polycystic kidney disease. Gene Mutation detection linkage analysis and preliminary ACE gene I/D polymorphism association studies: an update.		106180	1845	1	1997												
114999	Y	coronary heart disease	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Albuminuria|Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 1	17	17q23	ACE	58908165	58952935		Tarnow L et al. 1995	7556981				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetologia. 1995 Jul;38(7):798-803	Insertion/deletion polymorphism in the angiotensin-I-converting enzyme gene is associated with coronary heart disease in IDDM patients with diabetic nephropathy.		106180	1840	1	1995												
115000	Y	coronary artery disease and myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Gardemann A et al. 1995	7586243				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Circulation. 1995 Nov;92(10):2796-9	Gene polymorphism but not catalytic activity of angiotensin I-converting enzyme is associated with coronary artery disease and myocardial infarction in low-risk patients.		106180	1841	1	1995	 Increased ACE activity obviously is not a risk factor of CAD or MI. The importance of the deletion polymorphism for the development of CAD and MI may be restricted to individuals without classic risk factors.											
115001		early coronary disease.	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Alvarez R et al. 1998	9893731				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Cardiovascular research. 1998 Nov;40(2):375-9	Angiotensin-converting enzyme and angiotensin II receptor 1 polymorphisms: association with early coronary disease.		106180	1842	1	1998	 Our results indicate a synergistic contribution of ACE and AT1R polymorphisms to the risk of coronary artery disease. This gene-gene interaction could have clinical implications. Approximately 2% of individuals in our population are CC + DD, and the genotyping of both polymorphisms could identify those with a high relative risk for coronary artery disease.											
114996	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Friedl W et al. 1995	7772074				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Austrian	Austria	KGB	1636	Hs.298469			Atherosclerosis. 1995 Jan;112(2):137-43	A deletion polymorphism in the angiotensin converting enzyme gene is not associated with coronary heart disease in an Austrian population.		106180	1837	1	1995	We conclude that , in the Austrian population, the insertion/deletion polymorphism in the ACE gene cannot be used as a marker for coronary risk assessment.											
114997	Y	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Hypertension	17	17q23	ACE	58908165	58952935		Arbustini E et al. 1995	8541160				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Italy	KGB	1636	Hs.298469			British heart journal. 1995 Dec;74(6):584-91	Angiotensin converting enzyme gene deletion allele is independently and strongly associated with coronary atherosclerosis and myocardial infarction.		106180	1838	1	1995												
114998	Y	early onset of ESRF in PKD1 adult polycystic kidney disease	OTHER	OTH	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Baboolal K et al. 1997	9291178				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Kidney international. 1997 Sep;52(3):607-13	Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease.		106180	1839	1	1997												
114993	Y	cardiovascular risk factors	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension|Diabetes Mellitus|Hyperlipidemias|Obesity	17	17q23	ACE	58908165	58952935		Uemura K et al. 2000	11071385				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Human genetics. 2000 Sep;107(3):239-42	Association of ACE I/D polymorphism with cardiovascular risk factors.		106180	1834	1	2000												
114994	Y	carotid arterial wall thickness	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Hosoi M et al. 1996	8772691				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Circulation. 1996 Aug;94(4):704-7	Angiotensin-converting enzyme gene polymorphism is associated with carotid arterial wall thickness in non-insulin-dependent diabetic patients.		106180	1835	1	1996	 The D allele of the ACE gene may be a risk factor for the development of wall thickening of the carotid but not the femoral artery in NIDDM patients.											
114995	Y	elevated fasting blood glucose levels	METABOLIC	MET	Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Zingone A et al. 1994	8045571				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Human genetics. 1994 Aug;94(2):207-9	Deletion polymorphism in the gene for angiotensin converting enzyme is associated with elevated fasting blood glucose levels.		106180	1836	1	1994												
114990	Y	chronic obstructive pulmonary disease	OTHER	OTH	Lung Diseases, Obstructive|Hypertrophy, Right Ventricular	17	17q23	ACE	58908165	58952935		van Suylen RJ et al. 1999	10351920				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of respiratory and critical care medicine. 1999 Jun;159(6):1791-5	The DD genotype of the angiotensin converting enzyme gene is negatively associated with right ventricular hypertrophy in male patients with chronic obstructive pulmonary disease.		106180	1831	1	1999												
114991	N	CAD	OTHER	OTH	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Saha N et al. 1996	8946109				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Asian	Asia	KGB	1636	Hs.298469			Clinical genetics. 1996 Sep;50(3):121-5	Lack of association of angiotensin-converting enzyme (ACE). Gene insertion/deletion polymorphism with CAD in two Asian populations.		106180	1832	1	1996												
114992		coronary heart disease in non-Type 1 diabetes	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Ruiz J et al. 1994	8170965				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Proceedings of the National Academy of Sciences of the United States of America. 1994 Apr;91(9):3662-5	Insertion/deletion polymorphism of the angiotensin-converting enzyme gene is strongly associated with coronary heart disease in non-insulin-dependent diabetes mellitus.		106180	1833	1	1994												
114987	Y	cardiovascular	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Hamon M et al. 1997	9227291				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Heart (British Cardiac Society). 1997 Jun;77(6):502-5	Association of angiotensin converting enzyme and angiotensin II type 1 receptor genotypes with left ventricular function and mass in patients with angiographically normal coronary arteries.		106180	1828	1	1997	 These data do not support an association of the ACE and AT1R genotypes on left ventricular hypertrophy in white patients with normal coronary arteries.											
114988	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Mulder HJ et al. 2003	12695469				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Heart (British Cardiac Society). 2003 May;89(5):557-8	DD ACE gene polymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial.		106180	1829	1	2003												
114989		ethnic origin	OTHER	OTH		17	17q23	ACE	58908165	58952935		Barley J et al. 1994	7814855				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of hypertension. 1994 Aug;12(8):955-7	Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin.		106180	1830	1	1994	 The relationship between ACE genotype and disease in these latter groups is still not known, but the present results clearly suggest that ethnic origin should be carefully considered in the increasing number of studies on the association between I/D ACE genotype and disease aetiology.											
114984	Y	cardiovascular	CARDIOVASCULAR	CARD	Atrial Fibrillation	17	17q23	ACE	58908165	58952935		Yamashita T et al. 1997	9462412				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Japanese heart journal. 1997 Sep;38(5):637-41	Is ACE gene polymorphism associated with lone atrial fibrillation?		106180	1825	1	1997												
114985	Y	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	17	17q23	ACE	58908165	58952935		Chou HT et al. 2003	12514670				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Taiwan	KGB	1636	Hs.298469			American heart journal. 2003 Jan;145(1):169-73	Association between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral valve prolapse syndrome.		106180	1826	1	2003	 This study showed that patients with MVPS have a higher frequency of ACE II genotype, which supports a role of the ACE I/D gene polymorphism in determining the risk of MVPS among the Chinese population in Taiwan.											
114986	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935	n	Pankow JS et al. 2000	10997795				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United States	KGB	1636	Hs.298469			Blood coagulation & fibrinolysis. 2000 Sep;11(6):551-8	Lack of association between the angiotensin-converting enzyme insertion/deletion polymorphism and plasminogen activator inhibitor-1 antigen levels in the National Heart Lung and Blood Institute Family Heart Study.		106180	1827	1	2000												
114981	Y	COPD	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	17	17q23	ACE	58908165	58952935		Kanazawa H et al. 2002	11888948				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Chest. 2002 Mar;121(3):697-701	Association between the angiotensin-converting enzyme gene polymorphisms and tissue oxygenation during exercise in patients with COPD.		106180	1822	1	2002	 The ACE DD genotype may be associated with an impairment in peripheral tissue oxygenation during exercise in patients with COPD.											
114983	Y	cardiovascular	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Heart Failure	17	17q23	ACE	58908165	58952935		Andersson B et al. 1996	8752809				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Sweden	KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1996 Jul;28(1):162-7	The DD genotype of the angiotensin-converting enzyme gene is associated with increased mortality in idiopathic heart failure.		106180	1824	1	1996	 Angiotensin-converting enzyme gene DD polymorphism was associated with poorer survival and an increase in left ventricular mass in patients with idiopathic heart failure. The results suggest a possible pathophysiologic pathway between angiotensin-converting enzyme gene polymorphism, angiotensin-converting enzyme activity, myocardial hypertrophy and survival. Therefore, the DD genotype may be a marker of poor prognosis in patients with congestive heart failure.											
114978	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Hypertension|Hypercholesterolemia	17	17q23	ACE	58908165	58952935		Takahashi K et al. 1995	8558760				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Japanese heart journal. 1995 Sep;36(5):557-64	Association of ACE gene polymorphisms with coronary artery disease in a northern area of Japan.		106180	1819	1	1995												
114979	N	cardiovascular	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure|Myocardial Ischemia	17	17q23	ACE	58908165	58952935	n	Sanderson JE et al. 1996	8644625				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	KGB	1636	Hs.298469			The American journal of cardiology. 1996 May;77(11):1008-10	Lack of association between insertion/deletion polymorphism of the angiotensin-converting enzyme gene and end-stage heart failure due to ischemic or idiopathic dilate cardiomyopathy in the Chinese.		106180	1820	1	1996												
114980	Y	diabetic nephropathy and retinopathy.	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Fujisawa T et al. 1998	9498629				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetologia. 1998 Jan;41(1):47-53	Meta-analysis of association of insertion/deletion polymorphism of angiotensin I-converting enzyme gene with diabetic nephropathy and retinopathy.		106180	1821	1	1998	These data suggest that the ACE I/D polymorphism affects the risk for diabetic nephropathy, but not for diabetic retinopathy.											
114975	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Morshed M et al. 2002	12297007				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Bangladeshi	Bangladesh	KGB	1636	Hs.298469			Journal of biochemistry and molecular biology. 2002 May;35(3):251-4	Association between angiotensin I-converting enzyme gene polymorphism and hypertension in selected individuals of the Bangladeshi population.		106180	1816	1	2002												
114976	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Yoshida K et al. 2000	11043512				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		KGB	1636	Hs.298469			Journal of human genetics. 2000 ;45(5):294-8	Association of essential hypertension in elderly Japanese with I/D polymorphism of the angiotensin-converting enzyme (ACE) gene.		106180	1817	1	2000												
114977	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Qu H et al. 2001	11840772				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		KGB	1636	Hs.298469			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2001 Nov;35(6):408-11	Meta-analysis on the association of ACE/ID polymorphism and essential hypertension in Chinese population		106180	1818	1	2001	 In Chinese population (mainly the Hans), DD genotype is associated with the increased risk of EH.											
114972	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Chiang FT et al. 1996	9140789				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	Taiwan	KGB	1636	Hs.298469			Journal of human hypertension. 1996 Dec;10(12):823-6	Age- and gender-dependent association of the angiotensin-converting enzyme gene with essential hypertension in a Chinese population.		106180	1813	1	1996	We conclude that  the deletion polymorphism of the ACE gene is significantly associated with male elderly hypertension, at least in this Chinese population. This observation, if proved in a larger population, may have some implications for the prevention and treatment strategy for elderly hypertension.											
114973	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935	n	Gu XX et al. 1994	7807498				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Belgian		KGB	1636	Hs.298469			Journal of human hypertension. 1994 Sep;8(9):683-5	Lack of association between the I/D polymorphism of the angiotensin-converting enzyme gene and essential hypertension in a Belgian population.		106180	1814	1	1994												
114974		hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Heart Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Aldashev AA et al. 2002	12406857				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Kyrgyzstan	KGB	1636	Hs.298469			American journal of respiratory and critical care medicine. 2002 Nov;166(10):1396-402	Characterization of high-altitude pulmonary hypertension in the Kyrgyz: association with angiotensin-converting enzyme genotype.		106180	1815	1	2002	We conclude that  HAPH is associated with ACE I/D genotype among Kyrgyz highlanders and the development of HAPH in this population and may be predicted by hyperresponsiveness to acute hypoxia.											
114969	Y	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Kimura M et al. 1997	9197423				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Cardiology. 1997 Jul-Aug;88(4):309-14	Association of a deletion polymorphism of the angiotensin-converting enzyme gene with left-ventricular hypertrophy in Japanese women with essential hypertension; multicenter study of 1 919 subjects.		106180	1810	1	1997												
114970	Y	Lupus	IMMUNE	IMM	Lupus Nephritis	17	17q23	ACE	58908165	58952935		Akai Y et al. 1999	10099886				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical nephrology. 1999 Mar;51(3):141-6	Association of an insertion polymorphism of angiotensin-converting enzyme gene with the activity of lupus nephritis.		106180	1811	1	1999	 These results suggest that the insertion polymorphism of the ACE gene may correlate with the activity of lupus nephritis.											
114971		I/D ACE gene polymorphism and ABO blood group system	OTHER	OTH		17	17q23	ACE	58908165	58952935		Vasku A et al. 1999	10534012				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Physiological research. 1999 ;48(2):99-104	Association analysis of 24-h blood pressure records with I/D ACE gene polymorphism and ABO blood group system.		106180	1812	1	1999												
114966	Y	Lupus	IMMUNE	IMM	Vasculitis|Lupus Erythematosus, Systemic	17	17q23	ACE	58908165	58952935		Pullmann R Jr et al. 1999	10544843				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical and experimental rheumatology. 1999 Sep-Oct;17(5):593-6	Association between systemic lupus erythematosus and insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene.		106180	1807	1	1999	 Our results suggest that in the multifactorially determined vascular pathology of SLE, changes associated with I/D polymorphism could influence vessel wall inflammation (monocyte adhesion and activation with cytokine release, T-lymphocyte metabolism), a tendency towards vascular impairment (neointimal proliferation, vasospasm, platelet activation, myocyte proliferation) and lead to the subsequent ischemia. The ACE gene could serve as the visceral damage indicator in SLE.											
114968		hypertension	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension	17	17q23	ACE	58908165	58952935		O'Donnell CJ et al. 1998	9603529				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United States	KGB	1636	Hs.298469			Circulation. 1998 May;97(18):1766-72	Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study.		106180	1809	1	1998	 In our large, population-based sample, there is evidence for association and genetic linkage of the ACE locus with hypertension and with diastolic blood pressure in men but not women. Our data support the hypothesis that ACE, or a nearby gene, is a sex-specific candidate gene for hypertension. Confirmatory studies in other large population-based samples are warranted.											
114963	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935	n	Zaman MM et al. 2001	11204304				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Journal of hypertension. 2001 Jan;19(1):47-53	Angiotensin converting enzyme genetic polymorphism is not associated with hypertension in a cross-sectional sample of a Japanese population: the Shibata Study.		106180	1804	1	2001	 Although there is a tendency of higher diastolic blood pressure in men with DD genotypes, there is no convincing evidence that ACE genotypes are associated with hypertension in this Japanese population.											
114964	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Lung Diseases, Obstructive|Chromosome Deletion|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kanazawa H et al. 2000	11029323				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of respiratory and critical care medicine. 2000 Oct;162(4 Pt 1):1235-8	Deletion polymorphisms in the angiotensin converting enzyme gene are associated with pulmonary hypertension evoked by exercise challenge in patients with chronic obstructive pulmonary disease.		106180	1805	1	2000												
114965	N	Lupus	IMMUNE	IMM	Cerebrovascular Disorders|Cerebrovascular Accident|Kidney Diseases|Heart Failure|Hypertension|Lupus Erythematosus, Systemic|Diabetes Mellitus|Diabetes Complications	17	17q23	ACE	58908165	58952935	n	Molad Y et al. 2000	11071585				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Seminars in arthritis and rheumatism. 2000 Oct;30(2):132-7	Renal outcome and vascular morbidity in systemic lupus erythematosus (SLE): lack of association with the angiotensin-converting enzyme gene polymorphism.		106180	1806	1	2000	 No difference was found between the distribution of the ACE genotype in lupus patients and the general population in Israel. Renal function as well as cardiovascular and cerebrovascular morbidity among Israeli patients with SLE are disease-related and independent of the ACE gene polymorphism.											
114960	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Chromosome Deletion	17	17q23	ACE	58908165	58952935		Zee RY et al. 1992	1314601				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Biochemical and biophysical research communications. 1992 Apr;184(1):15-Sep	Association of a polymorphism of the angiotensin I-converting enzyme gene with essential hypertension.		106180	1801	1	1992												
114961	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	17	17q23	ACE	58908165	58952935		Sato H et al. 1998	9863894				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	KGB	1636	Hs.298469			Lupus. 1998 ;7(8):530-4	Association of an insertion polymorphism of angiotensin-converting enzyme gene with the activity of systemic lupus erythematosus.		106180	1802	1	1998												
114962	Y	Lupus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic	17	17q23	ACE	58908165	58952935		Parsa A et al. 2002	12215901				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Genes and immunity. 2002 Oct;3 Suppl 1:S42-6	Association of angiotensin-converting enzyme polymorphisms with systemic lupus erythematosus and nephritis: analysis of 644 SLE families.		106180	1803	1	2002												
114957	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Mastana S et al. 1997	9358012				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Sikh	India	KGB	1636	Hs.298469			Human heredity. 1997 Sep-Oct;47(5):250-3	Angiotensin-converting enzyme deletion polymorphism is associated with hypertension in a Sikh population.		106180	1798	1	1997												
114958	Y	hypertension	CARDIOVASCULAR	CARD	Retinal Diseases|Albuminuria|Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935		Pontremoli R et al. 1996	8989733				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American Society of Nephrology. 1996 Dec;7(12):2550-8	The deletion polymorphism of the angiotensin I-converting enzyme gene is associated with target organ damage in essential hypertension.		106180	1799	1	1996												
114959		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Higashimori K et al. 1993	8384838				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Biochemical and biophysical research communications. 1993 Mar;191(2):399-404	Association analysis of a polymorphism of the angiotensin converting enzyme gene with essential hypertension in the Japanese population.		106180	1800	1	1993												
114954	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Davis D et al. 2001	11550114				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of human hypertension. 2001 Sep;15(9):653-4	The ACE gene I/D polymorphism but not the angiotensin II type I receptor gene A1166C polymorphism is associated with isolated systolic hypertension.		106180	1795	1	2001												
114955	Y	hypertension	CARDIOVASCULAR	CARD	Cough	17	17q23	ACE	58908165	58952935		Mukae S et al. 2000	10904024				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension. 2000 Jul;36(1):127-31	Bradykinin B(2) receptor gene polymorphism is associated with angiotensin-converting enzyme inhibitor-related cough.		106180	1796	1	2000												
114956	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Perticone F et al. 1998	9535412				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension. 1998 Apr;31(4):900-5	Angiotensin-converting enzyme gene polymorphism is associated with endothelium-dependent vasodilation in never treated hypertensive patients.		106180	1797	1	1998												
114951	Y	lipid profiles	METABOLIC	MET	Diabetes Mellitus, Type 1	17	17q23	ACE	58908165	58952935		Kobayashi K et al. 1999	10474023				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hormone research. 1999 ;51(4):201-4	Association of angiotensin-converting enzyme gene polymorphism with lipid profiles in children and adolescents with insulin-dependent diabetes mellitus.		106180	1792	1	1999												
114952	Y	malignant vascular injury	OTHER	OTH	Hemolytic-Uremic Syndrome|Hypertension, Malignant|Scleroderma, Systemic	17	17q23	ACE	58908165	58952935		Mayer NJ et al. 2002	11836444				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Molecular pathology. 2002 Feb;55(1):29-33	Association of the D allele of the angiotensin I converting enzyme polymorphism with malignant vascular injury.		106180	1793	1	2002	 Possession of at least one copy of the D allele is associated with an increased risk of developing MVI. Our data support a dominant mode of effect for the D allele. Use of the I/D polymorphism as a genetic marker for MVI may be of value clinically in identifying at risk individuals before the development of target end organ damage. Furthermore, those at risk may benefit from early ACE inhibition.											
114953	N	ischemic vascular disease	OTHER	OTH	Brain Ischemia|Myocardial Ischemia	17	17q23	ACE	58908165	58952935	n	Lin JJ et al. 1999	10575803				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		KGB	1636	Hs.298469			Zhonghua yi xue za zhi. 1999 Nov;62(11):756-63	Lack of association between deletion polymorphism of the ACE gene and ischemic vascular diseases in a Chinese population in Taiwan.		106180	1794	1	1999	 Deletion polymorphism of the ACE gene was not associated with IVD in a Chinese population in Taiwan. The unique or synergistic effect of other genes that might contribute to the pathogenesis of IVDs needs further investigation.											
114948	N	renal progression	OTHER	OTH	Glomerulonephritis, IGA|Disease Progression	17	17q23	ACE	58908165	58952935	n	Suzuki S et al. 2000	10793025				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			American journal of kidney diseases. 2000 May;35(5):896-903	Insertion/deletion polymorphism in ACE gene is not associated with renal progression in Japanese patients with IgA nephropathy.		106180	1789	1	2000												
114949	Y	plasma antigen levels of plasminogen activator inhibitor-1	OTHER	OTH	Vascular Diseases	17	17q23	ACE	58908165	58952935		Matsubara Y et al. 2000	10759003				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469			Blood coagulation & fibrinolysis. 2000 Mar;11(2):115-20	Angiotensin converting enzyme insertion/deletion polymorphism is associated with plasma antigen levels of plasminogen activator inhibitor-1 in healthy Japanese population.		106180	1790	1	2000												
114950	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	n	Sugiyama T et al. 1999	10221352				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan	KGB	1636	Hs.298469	Lack of sex-specific effects		Hypertension research. 1999 Mar;22(1):55-9	Lack of sex-specific effects on the association between angiotensin-converting enzyme gene polymorphism and hypertension in Japanese.		106180	1791	1	1999												
114945	Y	postprandial hyperglycaemia	OTHER	OTH	Hyperglycemia	17	17q23	ACE	58908165	58952935		Ohishi M et al. 2000	10874503				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical and experimental pharmacology & physiology. 2000 Jul;27(7):483-7	Deletion polymorphism of angiotensin-converting enzyme gene is associated with postprandial hyperglycaemia in individuals undergoing general check-up.		106180	1786	1	2000												
114946	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Ludwig E et al. 1995	7697839				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Circulation. 1995 Apr;91(8):2120-4	Angiotensin-converting enzyme gene polymorphism is associated with myocardial infarction but not with development of coronary stenosis.		106180	1787	1	1995	 Segregation of the ACE I/D polymorphism is a pervasive genetic risk factor for MI in whites but has no evident effect on the events leading to stenosis of the coronary arteries. This suggests that risk of MI is influenced by two independent processes--atherogenesis that leads to coronary stenosis followed by conversion to MI. The renin-angiotensin system appears to confer significant risk of infarction by influencing the conversion to MI but has no apparent effect on the development of atherostenosis.											
114947	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Ischemia	17	17q23	ACE	58908165	58952935		Dakik HA et al. 1997	9180106				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1997 Jun;29(7):1468-73	Association of angiotensin I-converting enzyme gene polymorphism with myocardial ischemia and patency of infarct-related artery in patients with acute myocardial infarction.		106180	1788	1	1997	 DD genotype was associated with a larger ischemic defect and occlusion of the infarct-related artery. Patients with DD genotype, having a larger ischemic defect, are expected to be at a greater risk for subsequent cardiovascular events.											
114942	Y	sarcoidosis	OTHER	OTH	Sarcoidosis, Pulmonary	17	17q23	ACE	58908165	58952935		Pietinalho A et al. 1999	10362030				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Finland	KGB	1636	Hs.298469	poor prognosis		The European respiratory journal. 1999 Apr;13(4):723-6	The angiotensin-converting enzyme DD gene is associated with poor prognosis in Finnish sarcoidosis patients.		106180	1783	1	1999												
114943	Y	progressive renal damage	RENAL	REN	Kidney Diseases|Disease Progression	17	17q23	ACE	58908165	58952935		Brock JW 3rd et al. 1997	9258202				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The Journal of urology. 1997 Sep;158(3 Pt 2):1308-11	Potential risk factors associated with progressive renal damage in childhood urological diseases: the role of angiotensin-converting enzyme gene polymorphism.		106180	1784	1	1997	 Considered together, these studies suggest that there are differences in the distribution of angiotensin-converting enzyme gene polymorphism in patients with congenital urological abnormalities who have evidence of renal parenchymal damage versus those who do not have such damage. Given that this genetic variation activates the renin-angiotensin system and this activation may be particularly robust in the kidney, we propose that the genotype of an individual independent of other factors modifies the likelihood of parenchymal loss in this setting.											
114944	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Schuster H et al. 1995	7677086				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The American journal of cardiology. 1995 Sep;76(8):601-3	An angiotensin-converting enzyme gene variant is associated with acute myocardial infarction in women but not in men.		106180	1785	1	1995												
114939		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q23	ACE	58908165	58952935		Ouyang WC et al. 2001	11408790				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Neuropsychobiology. 2001 ;44(1):31-5	Association study of angiotensin-converting enzyme gene polymorphism with schizophrenia and polydipsia.		106180	1780	1	2001												
114940	Y	sarcoidosis.	OTHER	OTH	Lung Diseases|Tuberculosis, Pulmonary|Sarcoidosis	17	17q23	ACE	58908165	58952935		Takemoto Y et al. 1998	9713444				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Thorax. 1998 Jun;53(6):459-62	Association between angiotensin II receptor gene polymorphism and serum angiotensin converting enzyme (SACE) activity in patients with sarcoidosis.		106180	1781	1	1998	 The AGTR1 allele C is associated with high activity of SACE in patients with sarcoidosis. It is another predisposing factor for high levels of SACE in patients with sarcoidosis and is considered to be an independent factor from the ACE D allele for high levels of SACE in sarcoidosis. This fact could be one of the explanations for the increased SACE activity in sarcoidosis.											
114941	Y	ruptured intracranial aneurysms	OTHER	OTH	Intracranial Aneurysm|Aneurysm, Ruptured	17	17q23	ACE	58908165	58952935		Keramatipour M et al. 2000	10882751				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of medical genetics. 2000 Jul;37(7):498-500	The ACE I allele is associated with increased risk for ruptured intracranial aneurysms.		106180	1782	1	2000												
114936	Y	diabetes, type 2	METABOLIC	MET	Hypertrophy, Left Ventricular|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Estacio RO et al. 1999	10371375				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			American journal of hypertension. 1999 Jun;12(6):637-42	Deletion polymorphism of the angiotensin converting enzyme gene is associated with an increase in left ventricular mass in men with type 2 diabetes mellitus.		106180	1777	1	1999												
114937	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Myocardial Ischemia|Myocardial Infarction|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Fujisawa T et al. 1995	7555560				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetes care. 1995 Jul;18(7):983-5	Angiotensin I-converting enzyme gene polymorphism is associated with myocardial infarction but not with retinopathy or nephropathy in NIDDM.		106180	1778	1	1995												
114938		metabolic syndrome and electrocardiographic coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Metabolic Diseases|Insulin Resistance	17	17q23	ACE	58908165	58952935		Nagi DK et al. 1998	9591757				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Metabolism:  clinical and experimental. 1998 May;47(5):622-6	Angiotensin-1-converting enzyme (ACE) gene polymorphism plasma ACE levels and their association with the metabolic syndrome and electrocardiographic coronary artery disease in Pima Indians.		106180	1779	1	1998												
114933		Myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	17	17q23	ACE	58908165	58952935		Rubinsztein DC et al. 1994	7874122				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Human molecular genetics. 1994 Nov;3(11):2031-5	Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.		106180	1774	1	1994												
114934		chronic nonproductive cough	IMMUNE	IMM	Cough|Chronic Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		McGarvey LP et al. 2000	11035682				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Chest. 2000 Oct;118(4):1091-4	Is there an association between angiotensin-converting enzyme gene variants and chronic nonproductive cough?		106180	1775	1	2000	 Susceptibility to develop chronic cough is not associated with ACE genotype.											
114935	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Isbir T et al. 1999	10794598				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	KGB	1636	Hs.298469			IUBMB life. 1999 Aug;48(2):205-7	Association between angiotensin-converting enzyme gene polymorphism and coronary artery disease.		106180	1776	1	1999												
114930	Y	myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	17	17q23	ACE	58908165	58952935		Yamagata H et al. 1996	8566943				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Japan|Europe	KGB	1636	Hs.298469			Human genetics. 1996 Feb;97(2):145-7	Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.		106180	1771	1	1996												
114931	N	idiopathic dilated cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Disease Progression	17	17q23	ACE	58908165	58952935	n	Montgomery HE et al. 1995	7759716				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 1995 Jun;25(7):1627-31	Lack of association between the insertion/deletion polymorphism of the angiotensin-converting enzyme gene and idiopathic dilated cardiomyopathy.		106180	1772	1	1995	We find no evidence to support an association between angiotensin-converting enzyme genotype and either the diagnosis of idiopathic dilated cardiomyopathy itself or progression of the disease.											
114932	Y	thromboembolism	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis|Protein C Deficiency|Protein S Deficiency|Thrombophilia	17	17q23	ACE	58908165	58952935		Gonzalez Ordonez AJ et al. 2000	10937809				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Blood coagulation & fibrinolysis. 2000 Jul;11(5):485-90	Risk of venous thromboembolism associated with the insertion/deletion polymorphism in the angiotensin-converting enzyme gene.		106180	1773	1	2000												
114927	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	17	17q23	ACE	58908165	58952935		Schunkert H et al. 1994	8177269				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			The New England journal of medicine. 1994 Jun;330(23):1634-8	Association between a deletion polymorphism of the angiotensin-converting-enzyme gene and left ventricular hypertrophy.		106180	1768	1	1994	The findings suggest that left ventricular hypertrophy is partially determined by genetic disposition. They identify the DD genotype of ACE as a potential genetic marker associated with an elevated risk of left ventricular hypertrophy in middle-aged men.											
114928	Y	failure of renoprotective therapy	OTHER	OTH	Kidney Diseases	17	17q23	ACE	58908165	58952935		van Essen GG et al. 1996	8538349				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Lancet. 1996 Jan;347(8994):94-5	Association between angiotensin-converting-enzyme gene polymorphism and failure of renoprotective therapy.		106180	1769	1	1996												
114929	N	high-altitude tolerance	OTHER	OTH	Pulmonary Edema|Acute Disease|Genetic Predisposition to Disease|Altitude Sickness	17	17q23	ACE	58908165	58952935	n	Dehnert C et al. 2002	12471298				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Europe	KGB	1636	Hs.298469			Medicine and science in sports and exercise. 2002 Dec;34(12):1928-33	No association between high-altitude tolerance and the ACE I/D gene polymorphism.		106180	1770	1	2002	 We conclude that I/D-ACE gene polymorphism has no important effect on susceptibility to AMS or HAPE.											
114924	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1	17	17q23	ACE	58908165	58952935		Azar ST et al. 2001	11428725				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	diabetic nephropathy		Endocrine research. 2001 Feb-May;27(2-Jan):99-108	The DD genotype of the ACE gene polymorphism is associated with diabetic nephropathy in the type-1 diabetics.		106180	1765	1	2001	We conclude that  the DD genotype of ACE gene polymorphism is associated with diabetic nephropathy in patients with type-1 diabetes mellitus.											
114925	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Wang L et al. 1998	10923445				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Zhonghua yi xue za zhi. 1998 May;78(5):372-4	Association between ACE gene polymorphism and therapeutic responsiveness of ACEI in diabetic nephropathy		106180	1766	1	1998												
114926	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Viswanathan V et al. 2001	11867868				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		India|Japan	KGB	1636	Hs.298469			JOP [electronic resource] :  Journal of the pancreas. 2001 Mar;2(2):83-7	Association between ACE gene polymorphism and diabetic nephropathy in South Indian patients.		106180	1767	1	2001	 This study showed a positive association between the D allele (ID and DD genotype) of the ACE polymorphism and diabetic proteinuria in South Indian type 2 diabetic patients. Our findings are in keeping with several earlier studies showing a strong association of the D allele of the ACE gene with diabetic nephropathy.											
114921	N	smoking	OTHER	OTH	Angina Pectoris, Variant	17	17q23	ACE	58908165	58952935	n	Kim HS et al. 1999	10376201				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	smoking		Coronary artery disease. 1999 Jun;10(4):227-33	Variant angina is not associated with angiotensin I converting enzyme gene polymorphism but rather with smoking.		106180	1762	1	1999	 Variant angina is associated with an environmental factor, such as smoking, rather than a genetic factor, such as ACE gene polymorphism.											
114922	N	diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1	17	17q23	ACE	58908165	58952935	n	Pfohl M et al. 1998	9660089				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Horm Metab Res. 1998 May;30(5):276-80	Lack of association between the insertion/deletion polymorphism of the angiotensin-converting-enzyme gene and diabetic nephropathy in IDDM patients.		106180	1763	1	1998												
114923	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 1|Disease Progression	17	17q23	ACE	58908165	58952935		Vleming LJ et al. 1999	10099885				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical nephrology. 1999 Mar;51(3):133-40	The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM.		106180	1764	1	1999	 It is concluded that the risk of end-stage renal failure in patients with IDDM is twofold increased in patients with the DD genotype as compared to patients with other genotypes.											
114918		stroke	CARDIOVASCULAR	CARD	Brain Ischemia	17	17q23	ACE	58908165	58952935		Moliaka IuK et al. 1998	9677696				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 1998 ;98(6):35-7	Association analysis of polymorphism in angiotensin-converting enzyme gene in ischemic stroke trans Analiz assotsiatsii polimorfizma v gene angiotenzinprevrashchaiushchego fermenta pri ishemicheskom insul'te.		106180	1759	1	1998												
114919		depressive disorders	PSYCH	PSY	Depressive Disorder, Major	17	17q23	ACE	58908165	58952935		Hong CJ et al. 2002	12203048				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			J Neural Transm. 2002 Sep;109(9):1209-14	Association study of angiotensin I-converting enzyme polymorphism and symptomatology and antidepressant response in major depressive disorders.		106180	1760	1	2002												
114920	Y	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Glucose Intolerance|Hyperlipidemias	17	17q23	ACE	58908165	58952935		Thomas GN et al. 2001	11213892				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	Hong Kong	KGB	1636	Hs.298469			Diabetes care. 2001 Feb;24(2):356-61	Renin-angiotensin system gene polymorphisms blood pressure dyslipidemia and diabetes in Hong Kong Chinese: a significant association of tne ACE insertion/deletion polymorphism with type 2 diabetes.		106180	1761	1	2001	 These findings suggest that these polymorphisms are unlikely to be involved in the pathogenesis of hypertension. The ACE I/D polymorphism was associated with the metabolic syndrome, having a higher frequency of I allele-containing genotypes in those groups, but this appeared to result predominantly from the relationship with type 2 diabetes/GIT in this population of Chinese subjects.											
114915	Y	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant	17	17q23	ACE	58908165	58952935		Uemasu J et al. 1997	9180368				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Life sciences. 1997 ;60(23):2139-44	Association between angiotensin converting enzyme gene polymorphism and clinical features in autosomal dominant polycystic kidney disease.		106180	1756	1	1997												
114916	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis	17	17q23	ACE	58908165	58952935		Kauma H et al. 1996	8906516				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of hypertension. 1996 Oct;14(10):1183-7	Association between angiotensin converting enzyme gene polymorphism and carotid atherosclerosis.		106180	1757	1	1996	 Variations at the ACE gene locus contribute to the degree of the early changes in carotid atherosclerosis in the population. The gene effect is, however, masked by stronger effects of environmental factors such as smoking. The lack of association between atherosclerotic plaques and genotypes may reflect different mechanisms being involved in plaque development and early arterial wall thickening.											
114917	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2|Disease Progression	17	17q23	ACE	58908165	58952935		Solini A et al. 2002	11756350				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetes. 2002 Jan;51(1):251-5	The angiotensin-converting enzyme DD genotype is associated with glomerulopathy lesions in type 2 diabetes.		106180	1758	1	2002												
114913	Y	ACEI-related cough	OTHER	OTH	Cough|Proteinuria|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	0.006	Yau-Jiunn Lee 2001	11699055			other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	Taiwan	Yau-Jiunn Lee	1636	Hs.298469			Metabolism:  clinical and experimental. 2001 Nov;50(11):1346-50	Angiotensin-converting enzyme gene insertion/deletion, not bradykinin B2 receptor -58T/C gene polymorphism, associated with angiotensin-converting enzyme inhibitor-related cough in Chinese female patients with non-insulin-dependent diabetes mellitus.		106180	1754	1	2001	In conclusion, our results indicate that Chinese diabetic female subjects are susceptible to ACEI-related cough, and this susceptibility may be genetically predetermined.	Cohort 189 Chinese non-insulin-dependent diabetes mellitus (NIDDM) patients with proteinuria or hypertension treated with perindopril were studied.										
114914	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Susceptibility	17	17q23	ACE	58908165	58952935	n	Carbonell J 2003	12605101	DCP1 allele			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	patients from Camden: Islington and Harlow psychiatric services		KEW	1636	Hs.298469	increased susceptibility		Psychiatric genetics. 2003 Mar;13(1):47-50			106180	1755	1	2003	 Further research is needed to elucidate any role that the DCP1 polymorphism may play in relation to Alzheimer's disease. Previous studies may be false positive, or inconsistency in replication may be due to heterogeneity.	Case:81; Control:68										
114909	N	Atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	n	Lee 2000	11030378	II. ID. DD		coding sequence	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Allergy. 2000 Oct;55(10):959-63			106180	1750	1	2000	 These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of asthma. However, the severity of asthma may not be influenced by polymorphisms of the ecNOS and ACE genes.											
114910	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases	17	17q23	ACE	58908165	58952935	n	Myllykangas L 2000	11018310				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Finnish	Finland	TJB	1636	Hs.298469			Neuroscience letters. 2000 Oct;292(3):195-8			106180	1751	1	2000		Case:113; Control:203										
114911	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	n	Tiret L 2000	10636255	I/D polymorphism			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			106180	1752	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
114906	N	Nonfamilial Hypertrophic or Dialated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomegaly|Cardiomyopathy, Dilated	17	17q23	ACE	58908165	58952935	n	Yamada Y 1997	9270088	insertion/deletion (I/D) polymorphism of a 287-bp Alu element in intron 16 of the ACE gene			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese		KGB	1636	Hs.298469			American journal of hypertension. 1997 Aug;10(8):921-8			106180	1747	1	1997		Case:88; Control:122										
114908	N	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Hypertension	17	17q23	ACE	58908165	58952935	n	Ueda S1995	8903617	ACE gene deletion/insertion (D/I) polymorphism			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of hypertension. 1995 Dec;13(12 Pt 2):1597-601			106180	1749	1	1995	 The DD genotype may not be a risk factor for stroke, particularly in the normotensive population. Further study in a strictly controlled population is required to test for the possibility of an increased risk of stroke in hypertensives with DD homozygotes.	Case:585; Control:188										
114903	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	n	Miyamasu 2001	11781714	Haplotype			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KCB	1636	Hs.298469			Genes and immunity. 2001 Dec;2(8):461-3			106180	1744	1	2001												
114904	N	Asthma	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935	n	Nakahama 1999	10227270	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KCB	1636	Hs.298469			The Journal of asthma. 1999 ;36(2):187-93			106180	1745	1	1999	We conclude that  in the Japanese population, the RAS component gene polymorphism is not associated with increased risk for bronchial asthma.											
114905	N	Asthma	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935	n	Tomita 1999	10197222	II. ID. DD			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KCB	1636	Hs.298469			Respiratory medicine. 1998 Dec;92(12):1305-10			106180	1746	1	1999												
114900	Y	Bipolar Affective Disorder	PSYCH	PSY	Bipolar Disorder	17	17q23	ACE	58908165	58952935	p=0.009	Meira- Lima IV 2000	11027844	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Brazilian		TJB	1636	Hs.298469			Neuroscience letters. 2000 Oct;293(2):103-6			106180	1741	1	2000		Case:115; Control:323										
114901	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935	?	Alvarez R 2001	11485372				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Japanese	Spain	KGB	1636	Hs.298469			Nitric oxide. 2001 Aug;5(4):343-8	Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA Genotypes and Early Coronary Artery Disease		106180	1742	1	2001	Although based on a limited number of patients, our work suggests that individuals who are NOS3-CC + ACE-DD are at a higher risk for early CAD, probably as a consequence of increased endothelial dysfunction.	Case:170 male smokers with coronary artery disease younger than 50 years;Control:300 healthy male smokers										
114902	N	Diabetic Nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935	n	Wong TY 1999	10352194	ACE (DD/II) or Atg M235T polymorphism			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China	KGB	1636	Hs.298469			American journal of kidney diseases. 1999 Jun;33(6):1064-70			106180	1743	1	1999		Case:80; Control:88										
114897		Chronic Glomerulonephritis	RENAL	REN	Glomerulonephritis|Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Buraczynska M 2001	11865575	I/D polymorphism in intron 16			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Polish		TJB	1636	Hs.298469			Pol Arch Med Wewn. 2001 Jun;105(6):455-60	[Renin-angiotensin system genes in chronic glomerulonephritis]		106180	1738	1	2001	Our results suggest that in the Polish population the AT1R gene polymorphism might be associated with increased susceptibility to chronic renal diseases.	Case:102 52 patients with immunological glomerular kidney diseases and 50 hemodialyzed patients with end-stage renal failure with glomerulonephritis as primary disease;Control:200 healthy Polish subjects										
114898	N	premature myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Ramasawmy R 1996	9147898	Insertion/Deletion (I/D)			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Mauritian Indians	India|Mauritius	KGB	1636	Hs.298469			Clinical genetics. 1996 Dec;50(6):551-4			106180	1739	1	1996		Case:85; Control:108										
114899		Asthma	IMMUNE	IMM	Asthma	17	17q23	ACE	58908165	58952935		Benessiano 1997	9003211	DD			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KCB	1636	Hs.298469			The Journal of allergy and clinical immunology. 1997 Jan;99(1 Pt 1):53-7			106180	1740	1	1997	 This study reports an association between the DD genotype of ACE and asthma, which is not related to the degree of airway obstruction. These results need to be confirmed by a larger case-control study.											
114894	Y	insulin sensitivity	METABOLIC	MET	Coronary Disease|Obesity|Body Weight	17	17q23	ACE	58908165	58952935	0.01	Ryan AS 2001	11522714	II genotype			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Diabetes care. 2001 Sep;24(9):1646-52			106180	1735	1	2001	 These data suggest that the I/D polymorphism is not associated with risk factors for CHD in overweight sedentary women; however, women who are homozygous for the D allele of the ACE gene are more insulin sensitive, whereas women who are homozygous for the I allele of the ACE gene have greater insulin resistance and potential risk for type 2 diabetes.											
114895	N	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	17	17q23	ACE	58908165	58952935	n	Gomez- Angelats E 2000	10673731	insertion/deletion (I/D) polymorphism of a 287-bp Alu element in intron 16 of the ACE gene			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of human hypertension. 2000 Jan;14(1):47-9			106180	1736	1	2000	We conclude that  the ACE gene I/D polymorphism is not associated with LVH in essential hypertension. Journal of Human Hypertension (2000) 14, 47-49.											
114896	N	Vasospastic Angina	CARDIOVASCULAR	CARD	Angina Pectoris	17	17q23	ACE	58908165	58952935	n	Kuroki S 1997	9377825	ACE I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Clinical cardiology. 1997 Oct;20(10):873-6			106180	1737	1	1997	 These findings suggest that the ACE DD genotype is a potent genetic risk factor for organic coronary artery disease, while it confers no appreciable increase in risk of vasospastic angina. These results also suggest the diversity of the pathogenesis of vascular lesions in these two types of coronary artery disease.	Case:75; Control:30										
114891	Y	Systemic Sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	?	Fatini C 2002	12015245	ACE D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Italy	KGB	1636	Hs.298469			The American journal of medicine. 2002 May;112(7):540-4	High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis		106180	1732	1	2002	 Our findings of an increased risk of systemic sclerosis in ACE D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the pathogenesis of the disease.	Control:112 control subjects;Case:73 consecutive patients (47 with limited and 26 with diffuse cutaneous systemic sclerosis)										
114892	Y	Age-associated memory impairment	PSYCH	PSY	Memory Disorders	17	17q23	ACE	58908165	58952935	P<0.014	Bartres-Faz D 2000	10963892	D allele		block deletion	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469	better performance of frontal lobe function		Neuroscience letters. 2000 Sep;290(3):177-80			106180	1733	1	2000		Case:100; Control:124										
114893	N	Left Ventricular Structure	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935	n	Linhart A 2000	10854008	insertion/deletion (I/D) polymorphism of a 287-bp Alu element in intron 16 of the ACE gene			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Blood pressure. 2000 ;9(1):47-51			106180	1734	1	2000												
114889	Y	Vascular Disease	CARDIOVASCULAR	CARD	Vascular Diseases	17	17q23	ACE	58908165	58952935	??	Hessner MJ 2001	11568114	Intron 16 I/D		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		TJB	1636	Hs.298469	aging		Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		106180	1730	1	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors										
114890	Y	Essential Hypertension	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Li X 2001	11484170	insertion/deletion (I/D) polymorphism of a 287-bp Alu element in intron 16 of the ACE gene			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese		TJB	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):292-5	[Association between angiotensin system gene polymorphism and essential hypertension]		106180	1731	1	2001	 The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.	Control:134 normotensive controls;Case:161 hypertensive patients:China										
114887	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Liu Y 1999	11593574	I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		China	TJB	1636	Hs.298469			Chinese medical journal. 1999 Feb;112(2):115-20			106180	1728	1	1999	 D allele of ACE gene might correlate with a predisposing factor for EH. The microsatellite allele of AT1R gene might be linkage disequilibrium with an unidentified variant that contributes to the development of EH. A-20C of AGT gene is not a major genetic determinant of EH.	Case:169; Control:152										
114888	Y	End- Stage Renal Disease (ESRD)	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935	P < 0.01	Lovati E 2001	11422735	I/D		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			TJB	1636	Hs.298469	Faster progression to ESRD		Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		106180	1729	1	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
114883	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Hara, K.  et al. 2002	11812766				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese	Japan	CDC GDPinfo	9370	Hs.80485			Diabetes. 2002 Feb;51(2):536-40	Genetic variation in the gene encoding adiponectin is associated with an increased risk of type 2 diabetes in the Japanese population.		605441	16877	2	2002	We conclude that  the adiponectin gene may be a susceptibility gene for type 2 diabetes.	Cohort subjects with type 2 diabetes 										
114884		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Iwai, N.  et al. 2004	15167446				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese	Japan	CDC GDPinfo	9370	Hs.80485			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		605441	18682	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
114885	N	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction	17	17q23	ACE	58908165	58952935	n	Rodriguez- Perez JC 2001	11345362	I/D		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Native Granb Canaria Island habitants (Spain)	Spain	TJB	1636	Hs.298469			Journal of the American College of Cardiology. 2001 May;37(6):1536-42			106180	1726	1	2001	 This study shows that genetic variation of the AGT (M235T), but not the ACE (I/D), genotypes contributes to the presence of CHD independently of blood pressure profile in a subset of the Spanish population with a high prevalence of cardiovascular disease.	Case:304; Control:315										
114880	Y	glucose tolerance; metabolic syndrome; adiponectin	METABOLIC	MET	Glucose Intolerance|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Gonzalez-Sanchez, J. L.  et al. 2005	15919831				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Obesity research. 2005 May;13(5):807-12	An SNP in the adiponectin gene is associated with decreased serum adiponectin levels and risk for impaired glucose tolerance.		605441	15072	2	2005												
114881		body mass; diabetes, type 2; insulin; glucose; body fat	METABOLIC	MET		3	3q27	ADIPOQ	188043156	188058946		Ru, Y.  et al. 2005	16331577				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):698-701	[Association of SNP276 in adiponectin gene with type 2 diabetes mellitus and insulin sensitivity.]		605441	15073	2	2005	 SNP276 in APM1 was associated with T2DM and insulin sensitivity.											
114882		electrocardiogram PR interval	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Kammerer, S.  et al. 2003	12646697				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		United States|Europe	CDC GDPinfo	9370	Hs.80485			Proceedings of the National Academy of Sciences of the United States of America. 2003 Apr;100(7):4066-71	Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: adisease susceptibility polymorphism.		604582	15151	2	2003	Age-stratified samples appear to be useful for screening SNPs to identify functional gene variants that have an impact on health.	Cohort approximately 5,000 genes between DNA pools of age-stratified healthy, European-American individuals 										
114877	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Obesity, Morbid|Diabetes Complications	3	3q27	ADIPOQ	188043156	188058946		Vasseur, F.  et al. 2005	15830179			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		France	CDC GDPinfo	9370	Hs.80485			Diabetologia. 2005 May;48(5):892-9	Hypoadiponectinaemia and high risk of type 2 diabetes are associated with adiponectin-encoding (ACDC) gene promoter variants in morbid obesity:evidence for a role of ACDC in diabesity.		605441	15069	2	2005												
114878	Y	glucose tolerance; insulin; obesity; energy expenditure	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Salmenniemi, U.  et al. 2005	15855264				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			The Journal of clinical endocrinology and metabolism. 2005 Jul;90(7):4216-23	Association of adiponectin level and variants in the adiponectin gene with glucose metabolism, energy expenditure, and cytokines in offspring of type 2 diabetic patients.		605441	15070	2	2005	 We conclude that adiponectin has multiple effects on glucose, lipid and free fatty acid metabolism, and cytokines in offspring of T2DM subjects.	Control control subjects;Case:158 offspring of patients with type 2 diabetes										
114879		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Filippi, E.  et al. 2005	15877215				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Journal of molecular medicine (Berlin, Germany). 2005 Sep;83(9):711-9	The adiponectin gene SNP+276G>T associates with early-onset coronary artery disease and with lower levels of adiponectin in younger coronary artery disease patients (age		605441	15071	2	2005		Control:270 matched controls to the 325 subjects with coronary artery diseasec;Case:325 subjects with coronary artery disease;Control:466:controls;Case:580 coronary artery disease subjects										
114874	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Lacquemant, C.  et al. 2004	15209773				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetic medicine. 2004 Jul;21(7):776-81	The adiponectin gene SNP+45 is associated with coronary artery disease in Type 2 (non-insulin-dependent) diabetes mellitus		605441	15066	2	2004	 Our study, performed in diabetic subjects, revealed an association between individual SNP+45 in the APM1 gene and CAD. Furthermore, the susceptibility for CAD due to SNP+45 was independent of classic cardiovascular risk factors. Further studies will be necessary to confirm the role of SNP+45 in the development of CAD. However, ACRP30/adiponectin may contribute to atherosclerosis susceptibility in high-risk populations such as Type 2 diabetic subjects.	Case:162 Type 2 diabetic French and Swiss subjects with coronary artery disease;Control:315 French and Swiss subjects without coronary artery:disease										
114875	Y	body mass; insulin; lipids; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Nakatani, K.  et al. 2005	15583845				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese	Japan	CDC GDPinfo	9370	Hs.80485			International journal of molecular medicine. 2005 Jan;15(1):173-7	Adiponectin gene variation associates with the increasing risk of type 2 diabetes in non-diabetic Japanese subjects.		605441	15067	2	2005	Adiponectin gene variations showed an association with obesity and insulin sensitivity, and adiponectin genotypes may predict the increasing risk for type 2 diabetes in non-diabetic subjects.	Cohort 194 non-diabetic Japanese subjects 										
114876		adiponectin	METABOLIC	MET		3	3q27	ADIPOQ	188043156	188058946		Pollin, T. I.  et al. 2005	15616038				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2005 Jan;54(1):268-74	Linkage of Plasma Adiponectin Levels to 3q27 Explained by Association With Variation in the APM1 Gene		605441	15068	2	2005	These findings, combined with a two-point LOD score of 2.35 for SNP +2019, provide evidence that variation in APM1 is responsible for linkage of adiponectin levels to 3q27 in the Old Order Amish.	Cohort 569 nondiabetic participants in the Amish Family Diabetes Study 										
114871		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Albuminuria|Diabetes Mellitus, Type 1	3	3q27	ADIPOQ	188043156	188058946		Stenvinkel, P.  et al. 2004	14675060				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Kidney international. 2004 Jan;65(1):274-81	Adiponectin in renal disease: relationship tophenotype and genetic variation in the gene encoding adiponectin.		605441	15063	2	2004	 The present cross-sectional study demonstrates that, whereas genetic variations seem to have a minor impact on circulating adiponectin levels, lower visceral fat mass and type 1 diabetes mellitus are associated with elevated plasma adiponectin levels in ESRD patients. Furthermore, low levels of adiponectin are associated with inflammation in ESRD.	Case:204 end-stage renal disease patients;Control:36 age- (52 +/- 2 years) and gender-matched (64% males) healthy subjects										
114872		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3q27	ADIPOQ	188043156	188058946		Hu, F. B.  et al. 2004	14693717				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2004 Jan;53(1):209-13	Genetic variation at the adiponectin locus and risk of type 2 diabetes in women.		605441	15064	2	2004	These data suggest a potential interaction between the adiponectin genotype and PPAR gamma genotype or obesity, but these analyses should be considered exploratory and require further investigation in larger studies.	Case:642 incident type 2 diabetes cases in the Nurses' Health Study;Control:955 matching control subjects		adiponectin genotype		PPAR gamma				Y	obesity	"diabetes, type 2"
114873	Y	atherosclerosis, coronary; metabolic syndrome	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Metabolic Diseases|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Ohashi, K.  et al. 2004	15063429				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese	Japan	CDC GDPinfo	9370	Hs.80485			Journal of the American College of Cardiology. 2004 Apr;43(7):1195-200	Adiponectin I164T mutation is associated with the metabolic syndrome and coronary artery disease.		605441	15065	2	2004	 The I164T mutation in the adiponectin gene was a common genetic background associated with the metabolic syndrome and CAD in the Japanese population.	Control:368 non-CAD subjects;Case:383 consecutive patients with angiographically confirmed CAD:Japan										
114868	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Kondo, H.  et al. 2002	12086969				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2002 Jul;51(7):2325-8	Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulinresistance syndrome.		605441	15060	2	2002	Our findings suggest that I164T mutation is associated with low plasma adiponectin concentration and type 2 diabetes.	Case Japanese patients with type 2 diabetes;Control age- and BMI-matched nondiabetic control subjects										
114869		obesity	METABOLIC	MET	Obesity	3	3q27	ADIPOQ	188043156	188058946		Ukkola, O.  et al. 2003	12870165				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Swedish		CDC GDPinfo	9370	Hs.80485			Metabolism:  clinical and experimental. 2003 Jul;52(7):881-4	Mutations in the adiponectin gene in lean and obese subjects from the Swedish obese subjects cohort.		605441	15061	2	2003	In conclusion, adiponectin DNA sequence variations might play a role in the complications of morbid obesity and should be further investigated.	Control:96 non-obese female controls (mean BMI, 23.0 kg/m(2)) from the Swedish Obese Subjects (SOS) cohort										
114870	Y	body mass; insulin	METABOLIC	MET	Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Filippi, E.  et al. 2004	14673476				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			European journal of human genetics. 2004 Mar;12(3):199-205	Association of the human adiponectin gene and insulin resistance.		605441	15062	2	2004	In summary, we observed an association between the +276G>T SNP in the adiponectin gene and insulin resistance. In particular, among leaner individuals, the adiponectin gene appears to determine an increased risk to develop insulin resistance.	Cohort 253 nondiabetic subjects 										
114865		obesity; weight loss	METABOLIC	MET	Obesity, Morbid|Weight Loss	3	3q27	ADIPOQ	188043156	188058946		Poitou, C.  et al. 2005	15760495				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Obesity surgery. 2005 Jan;15(1):23-Nov	Relationship between single nucleotide polymorphisms in leptin, IL6 and adiponectin genes and their circulating product in morbidly obese subjects before and after gastric banding surgery.		605441	12151	2	2005	 We observed that the SNPs studied could modulate the concentration of adiposity signals not only at baseline but also during weight loss. Such variations may be sensed by the homeostatic feedback system that controls energy balance and may in turn contribute to some disturbances in weight regulation.	Cohort 65 obese patients undergoing gastric banding surgery 										
114866		lymphoma; obesity, localized	CANCER	CAN	Lymphoma, Non-Hodgkin|Obesity	3	3q27	ADIPOQ	188043156	188058946		Willett, E. V.  et al. 2005	16160698				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			British journal of cancer. 2005 Oct;93(7):811-6	Non-Hodgkin's lymphoma, obesity and energy homeostasis polymorphisms.		605441	12152	2	2005												
114867		glucose tolerance; adiponectin	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Gonzalez-Sanchez, J. L.  et al. 2005	16254197	TNFalpha-308 A/G		promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Clinical chemistry. 2006 Jan;52(1):97-103	Interaction of the -308G/A Promoter Polymorphism of the Tumor Necrosis Factor-{alpha} Gene with Single-Nucleotide Polymorphism 45 of the Adiponectin Gene: Effect on Serum AdiponectinConcentrations in a Spanish Population.		605441	14370	2	2005	 Our findings are the first to indicate that a higher incidence of impaired glucose tolerance and low circulating adiponectin concentration may be associated with interaction between the -308G/A promoter polymorphism of the TNF-alpha gene and SNP 45 in the adiponectin gene.			TNF-alpha	308G/A promoter	adiponectin gene	SNP 45			Y		adiponectin glucose tolerance
114862	Y	triglycerides; insulin; cardiovascular disease risk	METABOLIC	MET	Cardiovascular Diseases|Insulin Resistance|Body Weight	3	3q27	ADIPOQ	188043156	188058946			16324920	G276T			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Korean		CDC GDPinfo	9370	Hs.80485			Metabolism:  clinical and experimental. 2006 Jan;55(1):59-66	The SNP276G>T polymorphism in the adiponectin (ACDC) gene is more strongly associated with insulin resistance and cardiovascular disease risk than SNP45T>G in nonobese/nondiabetic Korean men independent of abdominal adiposity and circulating plasma adipon		605441	8473	2	2006												
114863		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	3	3q27	ADIPOQ	188043156	188058946			16335909				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		Finland	CDC GDPinfo	9370	Hs.80485			Gynecological endocrinology. 2005 Sep;21(3):165-9	Associations between two single nucleotide polymorphisms in the adiponectin gene and polycystic ovary syndrome		605441	8474	2	2005	We conclude that  polymorphisms of the adiponectin gene may be implicated in individual susceptibility to PCOS.											
114864		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946			16358955				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		Poland	CDC GDPinfo	9370	Hs.80485			Rocz Akad Med Bialymst. 2005 ;50:148-50	Single Nucleotide Polymorphisms in exon 3 of the adiponectin gene in subjects with type 2 diabetes mellitus		605441	8475	2	2005	 To our knowledge the present study is the first which shows that in Polish populations.											
114858		insulin; body fat	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Ukkola, O.  et al. 2005	16028335				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		Finland	CDC GDPinfo	9370	Hs.80485			Annals of medicine. 2005 ;37(2):141-50	Adiponectin polymorphisms, adiposity and insulin metabolism: HERITAGE family study and Oulu diabeticstudy.		605441	8469	2	2005	 The carriers of the His111 allele may have a higher risk of developing Type 2 diabetes mellitus. Racial differences were found between Blacks and Whites in body composition and lipids according to ACDC genotypes. Sequence variants in the adiponectin gene appear to be associated with diabetes and diabetes-related phenotypes.											
114859		cardiovascular disease; lipoproteins; triacylglycerol	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Insulin Resistance|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Jang, Y.  et al. 2005	16210704	G276T			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Korean	Korea	CDC GDPinfo	9370	Hs.80485			The American journal of clinical nutrition. 2005 Oct;82(4):760-7	Association of the 276G->T polymorphism of the adiponectin gene with cardiovascular disease risk factors in nondiabetic Koreans.		605441	8470	2	2005	 The 276G-->T polymorphism of the adiponectin gene modulates circulating adiponectin and IR, particularly in obese states. G allele carriers also have higher oxidative stress, higher sdLDL concentrations, and smaller LDL particle size. Therefore, the presence of the G allele in the adiponectin gene at SNP 276 could be a significant contributor to higher cardiovascular disease risk in Koreans, independent of common environmental factors.											
114860	Y	obesity	METABOLIC	MET	Obesity, Morbid	3	3q27	ADIPOQ	188043156	188058946		Fredriksson, J.  et al. 2005	16231017				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			International journal of obesity (2005). 2006 Feb;30(2):226-32	A polymorphism in the adiponectin gene influences adiponectin expression levels in visceral fat in obese subjects.		605441	8471	2	2005												
114855		atherosclerosis, coronary; stroke; adiponectin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetic Angiopathies	3	3q27	ADIPOQ	188043156	188058946		Qi, L.  et al. 2005	15855354	G276T			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2005 May;54(5):1607-10	The +276 polymorphism of the APM1 gene, plasma adiponectin concentration, and cardiovascular risk in diabetic men.		605441	8466	2	2005	In conclusion, our study showed significant associations between APM1 G276T and decreased CVD risk and increased plasma adiponectin levels in diabetic men.	Case:239 diabetic men from the Health Professionals Follow-up Study who developed coronary heart disease or stroke;Control:640 CVD-negative subjects										
114856	Y	glucose; adiponectin	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Kang, E. S.  et al. 2005	15855579				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes care. 2005 May;28(5):1139-44	The influence of adiponectin gene polymorphism on the rosiglitazone response in patients with type 2 diabetes.		605441	8467	2	2005	 These data suggest that genetic variations in the adiponectin gene can affect the rosiglitazone treatment response of the circulating adiponectin level and blood glucose control in type 2 diabetic patients.	Cohort 166 patients with type 2 diabetes 	rosiglitazone									
114857	N	diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetes Complications|Diabetic Nephropathies|Diabetic Neuropathies	3	3q27	ADIPOQ	188043156	188058946		Rudofsky, G. = Jr et al. 2005	15955133				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes, obesity & metabolism. 2005 Jul;7(4):455-9	No association of the 94T/G polymorphism in the adiponectin gene with diabetic complications.		605441	8468	2	2005	 The 94T/G polymorphism in the adiponectin gene is not associated with diabetic complications. The significance of a higher prevalence of the G allele in type 2, compared to type 1 diabetes remains to be clarified.											
114852		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	3	3q27	ADIPOQ	188043156	188058946		Hsieh, K.  et al. 2005	15734793				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Clinical chemistry. 2005 Jun;51(6):952-6	Impact of alphaENaC polymorphisms on the risk of ischemic cerebrovascular events: a multicentercase-control study.		605441	8463	2	2005	 Carriers of the 493Arg allele are at increased risk for ICEs compared with Trp/Trp carriers. The effect is independent of traditional vascular risk factors and is particularly evident in younger women. The Trp493Arg variant in alphaENaC may represent an important candidate genetic susceptibility factor in the development of ICEs.	Control:1,076 control individuals without vascular disease;Case:1,399 patients with ischemic cerebrovascular disease										
114853		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Zacharova, J.  et al. 2005	15734870				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2005 Mar;54(3):893-9	The common polymorphisms (single nucleotide polymorphism [SNP] +45 and SNP +276) of the adiponectin gene predict the conversion from impaired glucose tolerance to type 2 diabetes: theSTOP-NIDDM trial.		605441	8464	2	2005	In conclusion, the G-allele of SNP +45 is a predictor for the conversion to type 2 diabetes. Furthermore, the combined effect of SNP +45 and SNP +276 on the development of type 2 diabetes was stronger than that of each SNP alone.	Cohort type 2 diabetic from the STOP-NIDDM trial 	acarbose									
114854	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Lee, Y. Y.  et al. 2005	15842511				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Korean	Korea	CDC GDPinfo	9370	Hs.80485			Diabetic medicine. 2005 May;22(5):569-75	Genetic association study of adiponectin polymorphisms with risk of Type 2 diabetes mellitus in Korean population.		605441	8465	2	2005	 The T45G and G276T of the adiponectin gene may not be an important determinant of Type 2 diabetes or insulin resistance in Korean subjects.	Control:427 non-diabetic controls;Case:493 Korean type 2 diabetic patients										
114849		triglycerides; obesity; adiponectin	METABOLIC	MET	Obesity|Body Weight	3	3q27	ADIPOQ	188043156	188058946		Berthier, M. T.  et al. 2004	15547300				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Journal of lipid research. 2005 Feb;46(2):237-44	Impact of adiponectin gene polymorphisms on plasma lipoprotein and adiponectin concentrations of viscerally obese men.		605441	8460	2	2004	These results suggest that some Apm1 gene polymorphisms influence plasma adiponectin concentrations and lipoprotein/lipid levels. In addition, the impact of these polymorphisms is modulated by the presence of visceral obesity and insulin resistance.	Cohort 270 unrelated men greater Quebec city 										
114850	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Xita, N.  et al. 2004	15590747				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Clinical chemistry. 2005 Feb;51(2):416-23	Effect of adiponectin gene polymorphisms on circulating adiponectin and insulin resistance indexes in women with polycystic ovary syndrome.		605441	8461	2	2004	 Adiponectin gene polymorphisms at positions +45 and +276 are not associated with PCOS. However, these genomic variants may influence production of adiponectin and the metabolic variables related to insulin resistance/metabolic syndrome in patients with PCOS.	Case:100 women with polycystic ovary syndrome;Control:140 healthy controls										
114851	N	body mass; diabetes, type 2; insulin; lipids; adiponectin	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3q27	ADIPOQ	188043156	188058946		de Courten, B. V.  et al. 2005	15616040				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Pima Indian	Arizona	CDC GDPinfo	9370	Hs.80485			Diabetes. 2005 Jan;54(1):284-9	Common Polymorphisms in the Adiponectin Gene ACDC Are Not Associated With Diabetes in Pima Indians		605441	8462	2	2005	Our findings suggest that these common ACDC polymorphisms do not play a major role in susceptibility to obesity or type 2 diabetes in this population.	Cohort 1,338 Pima Indians 										
114846	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Panidis, D.  et al. 2004	15178661				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Human reproduction (Oxford, England). 2004 Aug;19(8):1728-33	Association of the T45G polymorphism in exon 2 of the adiponectin gene with polycystic ovary syndrome: role of Delta4-androstenedione.		605441	8457	2	2004	 Our study suggests that adiponectin polymorphisms are not causatively involved in the metabolic disturbances of PCOS, but that an interaction between adiponectin and steroid synthesis or action might exist.	Control:100 ovulating women without hyperandrogenemia;Case:132 women with PCOS [62 with body mass index (BMI) >25 kg/m(2) and 70 with BMI <25 kg/m(2)]										
114847	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Stenosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Bacci, S.  et al. 2004	15277433				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes care. 2004 Aug;27(8):2015-20	The +276 g/t single nucleotide polymorphism of the adiponectin gene is associated with coronary artery disease in type 2 diabetic patients		605441	8458	2	2004	 In conclusion, the +276 G>T polymorphism is a determinant of CAD risk in type 2 diabetic patients. This marker may assist in the identification of diabetic individuals at especially high risk of CAD, so that preventive programs can be targeted at these subjects.	Case:142 of 376 consecutive type 2 diabetic patients (case subjects with coronary stenosis >50% or previous myocardial infarction);Control:234 of 376 consecutive type 2 diabetic patients (control subjects with no symptoms, no electrocardiogram (ECG) signs of myocardial ischemia, and a normal ECG stress test (n = 189) and/or (n = 45) with coronary stenosis										
114843		obesity	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Yang, W. S.  et al. 2003	12750819				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Journal of molecular medicine (Berlin, Germany). 2003 Jul;81(7):428-34	Allele-specific differential expression of a common adiponectin gene polymorphism related to obesity.		605441	8454	2	2003	In conclusion, the allele-specific differential expression of this common polymorphism could be responsible for its biological effects observed in this and the other studies.	Cohort 245 ostensibly normal nondiabetic subjects 										
114844	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	3	3q27	ADIPOQ	188043156	188058946		Gu, H. F.  et al. 2004	14749263			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Swedish	France|Sweden	CDC GDPinfo	9370	Hs.80485			Diabetes. 2004 Feb;53 Suppl 1:S31-5	Single nucleotide polymorphisms in the proximal promoter region of the adiponectin (APM1) gene are associated with type 2 diabetes in Swedish caucasians.		605441	8455	2	2004	The present study provides additional evidence that SNPs in the proximal promoter region of the APM1 gene contribute to the development of type 2 diabetes.	Case:106/325 patients with type 2 diabetes (n=106) and patients with impaired glucose tolerance (n=325):Sweden;Control:497 nondiabetic controls										
114845	Y	insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Fumeron, F.  et al. 2004	15047634				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		France	CDC GDPinfo	9370	Hs.80485			Diabetes. 2004 Apr;53(4):1150-7	Adiponectin Gene Polymorphisms and Adiponectin Levels Are Independently Associated With the Development of Hyperglycemia During a 3-Year Period: The Epidemiologic Data on the InsulinResistance Syndrome Prospective Study		605441	8456	2	2004	Adiponectin gene SNPs may have several phenotypic effects that co-occur with the development of the metabolic syndrome.	Cohort 4,500 French Caucasian subjects from the Epidemiologic Data on the Insulin Resistance Syndrome (DESIR) cohort 										
114840	Y	cholesterol; cholesterol, LDL	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Zietz, B.  et al. 2001	11571669				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian		CDC GDPinfo	9370	Hs.80485			Experimental and clinical endocrinology & diabetes. 2001 ;109(6):320-5	Gly15Gly polymorphism within the human adipocyte-specific apM-1gene but not Tyr111His polymorphism is associated with higher levels of cholesterol and LDL-cholesterol in caucasian patients with type 2 diabetes.		605441	8451	2	2001	Thus, Gly15Gly polymorphism of apM-1 gene might play a role in dyslipidaemia in type 2 diabetic patients.	Cohort 556 type 2 (316 males / 240 females) diabetic patients 										
114841	Y	body mass; insulin sensitivity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3q27	ADIPOQ	188043156	188058946		Stumvoll, M.  et al. 2002	11756320				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Diabetes. 2002 Jan;51(1):37-41	Association of the T-G polymorphism in adiponectin (exon 2) with obesity and insulin sensitivity:interaction with family history of type 2 diabetes.		605441	8452	2	2002	This suggests that in individuals without familial predisposition for type 2 diabetes, the adiponectin polymorphism may mildly increase the obesity risk (and secondarily insulin resistance). In contrast, in individuals who are already burdened by other genetic factors, this small effect may be very hard to detect.	Cohort 371 nondiabetic individuals 										
114842		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Vasseur, F.  et al. 2002	12354786			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	French	France	CDC GDPinfo	9370	Hs.80485			Human molecular genetics. 2002 Oct;11(21):2607-14	Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.		605441	8453	2	2002	Although family-based association analysis with T2D did not reach significance, our results suggest that an at-risk haplotype of common variants located in the promoter and rare mutations in exon 3 contribute to the variation of the adipocyte-secreted adiponectin hormone level, and may be part of the genetic determinants for T2D in the French Caucasian population.	Cohort 1246 type 2 diabetes and obese French subjects 										
114837	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Zietz B et al. 2001	11571669				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	caucasian		KGB	9370	Hs.80485			Experimental and clinical endocrinology & diabetes. 2001 ;109(6):320-5	Gly15Gly polymorphism within the human adipocyte-specific apM-1gene but not Tyr111His polymorphism is associated with higher levels of cholesterol and LDL-cholesterol in caucasian patients with type 2 diabetes.		605441	6630	1	2001	Thus, Gly15Gly polymorphism of apM-1 gene might play a role in dyslipidaemia in type 2 diabetic patients.	Cohort 556 type 2 (316 males / 240 females) diabetic patients										
114838	Y	metabolic syndrome	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946	0.028	J Mol Med. 2003 Jul;81(7):428-34	12750819	SNP45	differential alllele-specific expression	coding sequence	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Non-diabetic Taiwanese		Wei-Shiung Yang	9370	Hs.80485	BMI		Journal of molecular medicine (Berlin, Germany). 2003 Jul;81(7):428-34	Allele-specific differential expression of a common adiponectin gene polymorphism related to obesity.		605441	6631	1	2003	In conclusion, the allele-specific differential expression of this common polymorphism could be responsible for its biological effects observed in this and the other studies.	Cohort 245 ostensibly normal nondiabetic subjects										
114839	Y	metabolic syndrome	METABOLIC	MET	Hypertension|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946	0.0008	Diabetologia. 2003 Jul;46(7):977-83.	12827242	SNP45		coding sequence	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Taiwanes and Japanese Hypertensive Family	China|Japan	Wei-Shiung Yang	9370	Hs.80485	insulin		Diabetologia. 2003 Jul;46(7):977-83	Genetic epistasis of adiponectin and PPARgamma2 genotypes in modulation of insulin sensitivity: a family-based association study.		605441	6632	1	2003		Case:844; Control:869										
114833		lipids; lipoproteins	METABOLIC	MET	Hyperlipidemias	11	11q22.3-q23.1	ACAT1	107497467	107523485		Ohta, T.  et al. 2004	15158756				Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000019.2			CDC GDPinfo	38	Hs.232375			Biochimica et biophysica acta. 2004 Jun;1682(3-Jan):56-62	The influence of the acyl-CoA:cholesterolacyltransferase-1 gene (-77G-->A) polymorphisms on plasma lipid and apolipoprotein levels in normolipidemic and hyperlipidemic subjects		607809	14957	2	2004	 Two variants in ACAT-1 gene were identified in subjects with hyperlipidemia. -77G-->A variant affects plasma HDL concentrations only in hyperlipidemic subjects. These data suggest that the intracellular FC concentration might modulate plasma HDL concentrations.	Control:178 unrelated normolipidemic subjects;Case:441 unrelated hyperlipidemic subjects										
114834	Y	obesity	METABOLIC	MET	Obesity	3	3q27	ADIPOQ	188043156	188058946		Engeli S et al. 2003	12663465				Adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			KGB	9370	Hs.80485			Diabetes. 2003 Apr;52(4):942-7	Association between adiponectin and mediators of inflammation in obese women.		605441	6627	1	2003												
114835	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Kondo H et al. 2002	12086969				Adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			KGB	9370	Hs.80485			Diabetes. 2002 Jul;51(7):2325-8	Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulin resistance syndrome.		605441	6628	1	2002												
114831		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET		12	12q22-qter	ACADS	119648048	119662193		Nagan, N.  et al. 2003	12706374				Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000017.1	African American		CDC GDPinfo	35	Hs.507076			Molecular genetics and metabolism. 2003 Apr;78(4):239-46	The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.		606885	14955	2	2003	These gene variants were detected in either homozygous or compound heterozygous form in 7% of the study population. Additionally, the frequency of the 625G>A allele in the Hispanic population (30%) was significantly higher than that of the African-American (9%) and Asian (13%) subpopulations. A previously unreported variant, IVS 5 (-10) C>T, was identified in three African-American newborns (0.3%). The C(4)-acylcarnitine concentration in blood spots was significantly higher in subjects homozygous for the 625A variant when compared to those homozygous for the wild type (p<0.0001). However, none of the observed genotypes was associated with a concentration of C(4)-acylcarnitine that would be consistent with a biochemical diagnosis of SCAD deficiency.	Cohort 694 newborn blood spot samples 										
114832	Y	medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET	Lipid Metabolism, Inborn Errors|Genetic Predisposition to Disease	12	12q22-qter	ACADS	119648048	119662193		Maldegem, B. T.  et al. 2005	15902559				Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000017.1	Dutch		CDC GDPinfo	35	Hs.507076			Journal of inherited metabolic disease. 2005 ;28(4):557-62	The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.		606885	14956	2	2005	Our study demonstrates a high frequency of the 625G>A SCAD gene variant in the Dutch population, but no correlation to significantly increased C(4)-carnitine levels in blood spots taken between the 5th and 8th days of life. This latter observation might be the result of the relatively late timing of neonatal screening in our country, implying that fatty acid oxidation disorders may be missed at that stage. If the 625G>A variant is associated with clinical SCAD deficiency, the high frequency of the variant suggests a possible involvement of SCAD deficiency in the pathogenesis of common disorders, probably in relation to other genetic and/or environmental factors. However, homozygosity for the 625G>A variant might be only a biochemical phenomenon, representing a 'nondisease'.	Cohort 1,036 screening cards of 5- to 8-day-old newborns the Netherlands 										
114828		high altitude performance	OTHER	OTH	Anoxia	3	3p23-p22	ACAA1	38139210	38153619		Patel, S.  et al. 2003	14621081				Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001607.2			CDC GDPinfo	30	Hs.166160			The European respiratory journal. 2003 Nov;22(5):755-60	Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia.		604054	14946	2	2003	The ventilatory response to hypoxic exercise is influenced by angiotensin-converting enzyme genotype. Potential implications concern high altitude performance and the pathogenesis and management of hypoxic lung disease.	Cohort 60 subjects undergoing incremental cardiopulmonary exercise testing 										
114829	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	ACACA	32516039	32841015		Sinilnikova, O. M.  et al. 2004	15333468				Acetyl-Coenzyme A carboxylase alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198834.1			CDC GDPinfo	31	Hs.160556			Carcinogenesis. 2004 Dec;25(12):2417-24	Acetyl-CoA carboxylase {alpha} gene and breast cancer susceptibility		200350	14947	2	2004	This study provides a first insight into the involvement of the ACCalpha gene in breast cancer predisposition and calls for further, large-scale studies that will be needed to understand the role of ACCalpha in tumour susceptibility and development.	Case:453 breast cancer cases;Control:469 female controls										
114830		acyl-CoA dehydrogenase (SCAD) deficiency	METABOLIC	MET	Liver Diseases|Pregnancy Complications|Anemia, Hemolytic|Thrombocytopenia|Syndrome	12	12q22-qter	ACADS	119648048	119662193		Bok LA 2003	14595061	1138C>T SCAD mutation			Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000017.1			KGB	35	Hs.507076	hemolysis-elevated liver enzymes-low platelets (HELLP) syndrome while pregnant with the index patient		Pediatrics. 2003 Nov;112(5):1152-5	Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.		606885	98	1	2003	 Homozygosity for an inactivating SCAD mutation does not necessarily result in disease. The previously held opinion that SCAD deficiency is always a serious disorder may have been influenced by a clinical bias. Homozygosity for an inactivating 1138C>T SCAD mutation was assessed by neonatal screening of blood spot acylcarnitines. SCAD deficiency may be associated with maternal HELLP syndrome.											
114825		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451			11436564				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		110300	16878	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
114826		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Chiaroni, J.  et al. 2004	15754970				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		110300	19269	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
114827		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2	3	3p23-p22	ACAA1	38139210	38153619			16385653				Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001607.2			CDC GDPinfo	30	Hs.166160			Yonsei medical journal. 2005 Dec;46(6):779-87	Polymorphism of the ACE Gene in Dialysis Patients:Overexpression of DD Genotype in Type 2 Diabetic End-Stage Renal Failure Patients		604054	8295	2	2005												
114822		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Activated Protein C Resistance|Thrombophilia	9	9q34.1-q34.2	ABO	135120383	135140451		Matyskova, M.  et al. 2002	11998221				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Cas Lek Cesk. 2002 Mar;141(5):146-51	[ABO/H blood groups and factor V Leiden]		110300	16584	2	2002	 There is a 1.76 times higher thrombosis risk (1/0.5697 = 1.76) in factor V Leiden carriers with blood group non-0 compared to blood group 0. The ProC Global mean values differ in patients with blood group 0 and in non-0 persons.	Control:controls;Case individuals with thrombophilia		F5	prothrombin mutation 20210A	F5	ProC Global			Y		thrombosis
114824	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Chen, Y. L.  et al. 2005	16008680				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2		Taiwan	CDC GDPinfo	28	Hs.561993			Clinical and experimental allergy. 2005 Jul;35(7):926-32	ABO/secretor genetic complex is associated with the susceptibility of childhood asthma in Taiwan.		110300	16776	2	2005	 We concluded that blood group O/secretors (Se/Se) and O/Le(a-b-) were associated with childhood asthma, and may act as one of the predominant factors for environmental triggers of allergy for asthmatic children in Taiwan.											
114819		alpha-amylase	UNKNOWN	UNK		9	9q34.1-q34.2	ABO	135120383	135140451		Beiboer, S. H.  et al. 2005	15847653				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Transfusion. 2005 May;45(5):667-79	Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization.		110300	14944	2	2005	 This study shows that the HPA microarray provides a reliable and fast genotyping procedure. With further development an automated throughput for complete typing of large donor cohorts can be obtained.	Cohort 94 donors 										
114820		myocardial infarct; heart failure	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Bandyopadhyay, A. R.  et al. 2005	16176058				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Anthropol Anz. 2005 Sep;63(3):335-40	Interaction between haptoglobin subtypes and AB0 blood groups in a Bengalee population.		110300	14945	2	2005												
114821		atherosclerosis, coronary	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Suastegui Roman, R. A.  et al. 2002	12587416				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	Mexican		CDC GDPinfo	28	Hs.561993			Rev Invest Clin. 2002 Sep-Oct;54(5):415-21	[Frequency of apolipoprotein E in a Nahua population]		110300	15296	2	2002	This is a descriptive study which contributes to the knowledge of the genetic structure of Mexican population.	Cohort individuals of the Nahua Indian-population Mexico 										
114816	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	9	9q34.1-q34.2	ABO	135120383	135140451		Schleef, M.  et al. 2005	15606555				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			British journal of haematology. 2005 Jan;128(1):100-7	Relationship between ABO and Secretor genotype with plasma levels of factor VIII and von Willebrand factor in thrombosis patients and control individuals		110300	14941	2	2005	Thus the risk of venous thrombosis is associated with the ABO blood group genotype but not with secretor status.	Control:236:controls;Case:355 patients with venous thrombosis										
114817	Y	thromboembolism, venous	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Tirado, I.  et al. 2005	15735796				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Thrombosis and haemostasis. 2005 Mar;93(3):468-74	The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism.		110300	14942	2	2005	In conclusion, high FVIII levels and non-O blood groups, likely those with the A(1) allele, are independent risk factors for venous thromboembolism and should be considered in evaluating of thrombophilia.	Control:250 unrelated controls;Case:250 patients with venous thrombosis										
114818		leukemia	CANCER	CAN		9	9q34.1-q34.2	ABO	135120383	135140451		Li, L.  et al. 2004	15751650				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Fa yi xue za zhi. 2004 ;20(4):193-6	[ABO genotyping by duplex amplification and oligonucleotide arrays assay]		110300	14943	2	2004	 The data and case application demonstrated that ABO typing by oligonucleotide probe arrays was a useful technique for paternity testing and individual identification.	Cohort 115 unrelated Chinese Han individuals 										
114813	N	atherosclerosis, coronary; cirrhosis, alcoholic	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Mukhin, V. N.  et al. 2003	12760254				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	Russian		CDC GDPinfo	28	Hs.561993			Genetika. 2003 Apr;39(4):530-3	[Gene frequencies and heterozygosity of the AB0 and RH blood group alleles in the populations of two cities of the Donetsk region, Ukraine]		110300	13510	2	2003	There were no statistically significant differences between the two populations in respect to the genetic markers analyzed. However, the heterozygosity values obtained were more similar to the corresponding estimates for some populations of Russia, than for the total population of the Ukraine.	Cohort populations of two large industrial cities Gorlovka and Mariupol, Ukraine 										
114814	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Stakisaitis, D.  et al. 2002	12560669				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Medicina (Kaunas, Lithuania). 2002 ;38 Suppl 2:230-5	[Coronary atherosclerosis and blood groups of ABO system in women (own data and review)]		110300	14939	2	2002	The B blood group can be related with coronary atherosclerosis in women. The O blood group can possibly serve as a protective antiatherogenic factor in women. The A blood group is not a risk factor for atherosclerosis in women in Lithuanian population. Long-livers are an important antiatherogenic control group for evaluation of atherogenetic markers of coronary atherosclerosis.	Cohort 441 Lithuanian women, suffering from coronary 										
114815		myocardial infarct	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Koda, Y.  et al. 2003	14569463				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Human genetics. 2003 Nov;113(6):534-41	DNA sequence variation of the human ABO-secretor locus ( FUT2) in New Guinean populations: possibleearly human migration from Africa.		110300	14940	2	2003	Corresponding positions of nonhuman primates have G and C, suggesting that the Se(375) allele is one of the ancestral alleles, reflecting the early human migration from Africa to New Guinea and the long isolation of Dani populations from neighboring populations.	Cohort 90/101/32 unrelated Papuan-speaking New Guineans (Dani group, n=90), admixed New Guineans from Irian Jaya, Indonesian=101), and New Guineans from Papua New Guinea (n=32) New Guinea 										
114810		gastritis, chronic atrophic	OTHER	OTH		9	9q34.1-q34.2	ABO	135120383	135140451		Mifsud, N. A.  et al. 1996	15387726				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Immunohematology. 1996 ;12(4):149-53	ABO genotyping-identification of O1, O1*, and O2 alleles using the polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) technique.		110300	8293	2	1996	The allelic frequencies were 35 percent, 26 percent, and 5 percent, respectively. PCR-SSO results correlated completely with both serologic and PCRRFLP results.	Cohort 155 random individuals 										
114811		alpha-amylase	UNKNOWN	UNK		9	9q34.1-q34.2	ABO	135120383	135140451		Baltova, S. D.   2004	15819453				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Folia medica. 2004 ;46(3):18-22	Polymorphism of the serum alpha-amylase in the population of the South Central and South Eastern regions of Bulgaria and its relationship with the erythrocyte blood group systems ABO and MNSs.		110300	8294	2	2004	 The difference between the observed and expected phenotypes of the examined blood group systems alpha-amylase, ABO, MNSs is short of statistical significance. This indicates genetic stability of the examined blood group systems in the studied population.	Cohort individuals sampled at the Serological Laboratory of the Department of Forensic Medicine at the Medical University of Plovdiv 										
114812		atherosclerosis, coronary; tuberculosis	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Evseeva IV  et al. 2001	11771313				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	Russian		CDC GDPinfo	28	Hs.561993			Genetika. 2001 Nov;37(11):1571-7	[Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of Russia]		110300	10393	2	2001	Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean FST = 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1 locus (FST = 0.056).											
114807		myocardial infarct	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Ohashi, J.  et al. 2004	15009807				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Tissue antigens. 2004 Apr;63(4):355-61	Molecular polymorphism of ABO blood group gene in Austronesian and non-Austronesian populations in Oceania.		110300	8290	2	2004	Our results imply that Balopa may be Melanesian descendants of the Lapita people who populated the Bismarck Archipelago.	Cohort individuals from the following three 										
114808	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Von Beckerath, N.  et al. 2004	15166945				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Blood coagulation & fibrinolysis. 2004 Jan;15(1):61-7	ABO locus O1 allele and risk of myocardial infarction		110300	8291	2	2004	Carriage of the O allele is associated with a decreased risk of myocardial infarction, with homozygosity providing the greatest protection.	Control:340 angiographically examined patients with neither coronary artery disease nor signs of MI;Case:793 consecutive, angiographically examined patients with either acute or prior MI										
114809		gastritis, chronic atrophic	OTHER	OTH		9	9q34.1-q34.2	ABO	135120383	135140451		Mifsud, N. A.  et al. 1996	15387725				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Immunohematology. 1996 ;12(4):143-8	ABO genotyping by polymerase chain reaction-restriction fragment length polymorphism.		110300	8292	2	1996	The protocol is applicable for investigations of weak or nonexpression of ABO alleles, paternity determinations, and population analysis.	Cohort 294 random individuals 										
114804		myocardial infarct	CARDIOVASCULAR	CARD		9	9q34.1-q34.2	ABO	135120383	135140451		Roubinet, F.  et al. 2001	11345596				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			Immunogenetics. 2001 Mar;53(2):95-104	Molecular polymorphism of O alleles in five populations of different ethnic origins.		110300	8287	2	2001	The number of different O alleles in population samples varied greatly.	Cohort 317 individuals of the O phenotype Basque, Berbers, Akans, Amerindians 										
114805		asthma	IMMUNE	IMM		9	9q34.1-q34.2	ABO	135120383	135140451		Al-Bustan, S.  et al. 2002	11939260				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			International journal of hematology. 2002 Feb;75(2):147-53	Allele frequencies and molecular genotyping of the ABO blood group system in a Kuwaiti population		110300	8288	2	2002	The ABO genotypes of the known 101 samples were as	Cohort 101 healthy unrelated Kuwaiti individuals 										
114806	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Nydegger, U. E.  et al. 2003	12786998				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDPinfo	28	Hs.561993			European journal of immunogenetics. 2003 Jun;30(3):201-6	Association of ABO histo-blood group B allele with myocardial infarction.		110300	8289	2	2003	In conclusion, the ABO blood group B allele was found to be an independent risk factor for myocardial infarction.	Case:177 myocardial infarction patients;Control:89:controls										
114800		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	9	9q34.1	ABL1	132579088	132752883		Crossman, L. C.  et al. 2005	16151465				V-abl Abelson murine leukemia viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005157.3			CDC GDPinfo	25	Hs.431048			Leukemia. 2005 Nov;19(11):1859-62	A single nucleotide polymorphism in the coding region of ABL and its effects on sensitivity to imatinib.		189980	8286	2	2005												
114801			OTHER	OTH		9	9q34.1-q34.2	ABO	135120383	135140451		Said N 2003	14572549				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	unknown		KGB	28	Hs.561993			Transfusion clinique et biologique. 2003 Oct;10(5):331-4	The ABO system polymorphism in Tunisian blood donors , trans Polymorphisme ABO dans une population de donneurs de sang tunisiens.		110300	94	1	2003												
114802		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	9	9q34.1-q34.2	ABO	135120383	135140451		Lucarelli P 1978	621091				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			Y Wang	28	Hs.561993			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		110300	95	1	2004												
114797	Y	cholesterol; cholesterol, LDL; campesterol; sitosterol	METABOLIC	MET		2	2p21	ABCG8	43919606	43959109		Plat, J.  et al. 2004	15520451				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Journal of lipid research. 2005 Jan;46(1):68-75	Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers.		605460	20239	2	2004	Genetic variation in ABCG8 not only explains cross-sectional differences in serum plant sterol concentrations, but also determines a subjects' responsiveness to changes in serum plant sterols during interventions known to affect plant sterol metabolism. Whether these findings should have consequences for a patients' optimal cholesterol-lowering drug treatment, warrants further investigation.	Cohort 112 non-hypercholesterolemi subjects 										
114798	Y	cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG8	43919606	43959109		Kajinami, K.  et al. 2004	15262185				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Atherosclerosis. 2004 Aug;175(2):287-93	Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin.		605460	20240	2	2004	We conclude that  the ABCG8 H19 and CYP7A1 C-204 alleles appear to interact in a dose-dependent manner on atorvastatin response.	Cohort 337 hypercholesterolemic patients treated with atorvastatin 10mg 	atorvastatin									
114799	Y	clonal evolution of chronic myeloid leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Blast Crisis|Disease Progression	9	9q34.1	ABL1	132579088	132752883		Asimakopoulos FA et al. 1999	10498618				V-abl Abelson murine leukemia viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005157.3			KGB	25	Hs.431048			Blood. 1999 Oct;94(7):2452-60	ABL1 methylation is a distinct molecular event associated with clonal evolution of chronic myeloid leukemia.		189980	93	1	1999												
114794	Y	cholesterol	METABOLIC	MET		2	2p21	ABCG8	43919606	43959109		Hubacek, J. A.  et al. 2004	15311998				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Physiological research. 2004 ;53(4):395-401	Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels.		605460	20236	2	2004	We conclude that  Tyr54Cys and Thr400Lys variations in the ABCG8 gene may play a role in the genetic determination of plasma cholesterol levels and could possibly influence the gender-specific response of plasma cholesterol levels after dietary changes. These polymorphisms are of potential interest as genetic variants that may influence the lipid profile.	Cohort 131/154 males (n=131) and females (n=154) whose dietary composition markedly changed and lipid parameters decreased over an 8-year follow-up study 										
114795		cholesterol absorption	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG8	43919606	43959109		Miwa, K.  et al. 2005	15816807				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2	Japanese	Japan	CDC GDPinfo	64241	Hs.413931			Clin Sci (Lond).. 2005 Aug;109(2):183-8	ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects.		605460	20237	2	2005	We conclude that , in 8% of patients with hypercholesterolaemia, the novel ABCG8 M429V variant was associated with higher cholesterol absorption efficiency. Future studies should investigate whether these findings have implications for the optimal cholesterol-lowering drug treatment in hypercholesterolaemic patients.	Cohort 100 Japanese primary hypercholesterolemic patients 										
114796		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG8	43919606	43959109		Kajinami, K.  et al. 2004	14703505				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Journal of lipid research. 2004 Apr;45(4):653-6	ATP binding cassette transporter G5 And G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin		605460	20238	2	2004	These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDL cholesterol-lowering response to atorvastatin therapy.	Cohort 338 hypercholesterolemic patients treated with atorvastatin 	atorvastatin									
114791	Y	lipoprotein	METABOLIC	MET	Obesity	2	2p21	ABCG8	43919606	43959109		Chan, D. C.  et al. 2004	15331430				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Arteriosclerosis, thrombosis, and vascular biology. 2004 Nov;24(11):2188-91	ATP-binding cassette transporter G8 gene as a determinant of apolipoprotein B-100 kinetics in overweight men.		605460	14937	2	2004	 Variation in the ABC transporter G8 appears to independently influence the metabolism of apoB-containing lipoproteins in overweight/obese subjects. This may have therapeutic implications for the management of dyslipidemia in these subjects.	Cohort 47 men (body mass index 32+/-3 kg/m2) 										
114792		cholesterol, total	METABOLIC	MET		2	2p21	ABCG8	43919606	43959109		Weggemans, R.  et al. 2002	12220438				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Clinical genetics. 2002 Sep;62(3):226-9	ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans.		605460	20234	2	2002	We suggest that the ABCG5 G/G genotype may increase serum cholesterol concentrations and, possibly responsiveness to dietary cholesterol in humans. Studies in other populations and experimental settings are required to confirm or reject this hypothesis.	Cohort 486/99 486 subjects whose blood cholesterol was measured, and 99 whose responsiveness to dietary cholesterol was measured 	cholesterol									
114793	Y	cholesterol, LDL; insulin; metabolism disorders	METABOLIC	MET	Insulin Resistance|Hypercholesterolemia	2	2p21	ABCG8	43919606	43959109		Gylling, H.  et al. 2004	15175352				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDPinfo	64241	Hs.413931			Journal of lipid research. 2004 Sep;45(9):1660-5	Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity.		605460	20235	2	2004	In conclusion, low cholesterol absorption efficiency was associated with characteristics of the metabolic syndrome. Low serum cholesterol and cholesterol absorption was linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men with the Q604E polymorphism of the ABCG5 gene.	Cohort 263 mildly hypercholesterolemic non-coronary subjects 										
114788	Y	hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG5	43893114	43919508		Kajinami, K.  et al. 2004	14703505				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Journal of lipid research. 2004 Apr;45(4):653-6	ATP binding cassette transporter G5 And G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin		605459	14936	2	2004	These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDL cholesterol-lowering response to atorvastatin therapy.	Cohort 338 hypercholesterolemic patients treated with atorvastatin 	atorvastatin									
114789		cholesterol; cholesterol, LDL; campesterol; sitosterol	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Plat, J.  et al. 2004	15520451				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Journal of lipid research. 2005 Jan;46(1):68-75	Common sequence variations in ABCG8 are related to plant sterol metabolism in healthy volunteers.		605459	14938	2	2004	Genetic variation in ABCG8 not only explains cross-sectional differences in serum plant sterol concentrations, but also determines a subjects' responsiveness to changes in serum plant sterols during interventions known to affect plant sterol metabolism. Whether these findings should have consequences for a patients' optimal cholesterol-lowering drug treatment, warrants further investigation.	Cohort 112 non-hypercholesterolemi subjects 										
114790		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2p21	ABCG5	43893114	43919508		Ohkubo, T.  et al. 2005	15980630				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2	Japanese	Japan	CDC GDPinfo	64240	Hs.132992			Dementia and geriatric cognitive disorders. 2005 ;20(3-Feb):95-8	No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease.		605459	20233	2	2005												
114785		cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG5	43893114	43919508		Kajinami, K.  et al. 2004	15262185				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Atherosclerosis. 2004 Aug;175(2):287-93	Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin.		605459	8283	2	2004	We conclude that  the ABCG8 H19 and CYP7A1 C-204 alleles appear to interact in a dose-dependent manner on atorvastatin response.	Cohort 337 hypercholesterolemic patients treated with atorvastatin 10mg 	atorvastatin									
114786		cholesterol	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Hubacek, J. A.  et al. 2004	15311998				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Physiological research. 2004 ;53(4):395-401	Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels.		605459	8284	2	2004	We conclude that  Tyr54Cys and Thr400Lys variations in the ABCG8 gene may play a role in the genetic determination of plasma cholesterol levels and could possibly influence the gender-specific response of plasma cholesterol levels after dietary changes. These polymorphisms are of potential interest as genetic variants that may influence the lipid profile.	Cohort 131/154 males (n=131) and females (n=154) whose dietary composition markedly changed and lipid parameters decreased over an 8-year follow-up study 										
114787		cholesterol absorption	METABOLIC	MET	Hypercholesterolemia	2	2p21	ABCG5	43893114	43919508		Miwa, K.  et al. 2005	15816807	M429V		coding sequence	ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2	Japanese	Japan	CDC GDPinfo	64240	Hs.132992			Clin Sci (Lond).. 2005 Aug;109(2):183-8	ATP-binding cassette transporter G8 M429V polymorphism as a novel genetic marker of higher cholesterol absorption in hypercholesterolaemic Japanese subjects.		605459	8285	2	2005	We conclude that , in 8% of patients with hypercholesterolaemia, the novel ABCG8 M429V variant was associated with higher cholesterol absorption efficiency. Future studies should investigate whether these findings have implications for the optimal cholesterol-lowering drug treatment in hypercholesterolaemic patients.	Cohort 100 Japanese primary hypercholesterolemic patients 										
114782		cancer	CANCER	CAN		4	4q22	ABCG2	89230439	89371498		Mathijssen, R. H.  et al. 2003	12960109				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDPinfo	9429	Hs.480218			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		603756	25815	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
114783	Y	cholesterol, total	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Weggemans, R.  et al. 2002	12220438				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Clinical genetics. 2002 Sep;62(3):226-9	ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans.		605459	8281	2	2002	We suggest that the ABCG5 G/G genotype may increase serum cholesterol concentrations and, possibly responsiveness to dietary cholesterol in humans. Studies in other populations and experimental settings are required to confirm or reject this hypothesis.	Cohort 486/99 486 subjects whose blood cholesterol was measured, and 99 whose responsiveness to dietary cholesterol was measured 	cholesterol									
114784	Y	cholesterol, LDL; insulin; metabolism disorders	METABOLIC	MET	Insulin Resistance|Hypercholesterolemia	2	2p21	ABCG5	43893114	43919508		Gylling, H.  et al. 2004	15175352				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDPinfo	64240	Hs.132992			Journal of lipid research. 2004 Sep;45(9):1660-5	Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity.		605459	8282	2	2004	In conclusion, low cholesterol absorption efficiency was associated with characteristics of the metabolic syndrome. Low serum cholesterol and cholesterol absorption was linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men with the Q604E polymorphism of the ABCG5 gene.	Cohort 263 mildly hypercholesterolemic non-coronary subjects 										
114779		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	4	4q22	ABCG2	89230439	89371498		De Jong, F. A.  et al. 2004	15355921				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2	Caucasian		CDC GDPinfo	9429	Hs.480218			Clinical cancer research. 2004 Sep;10(17):5889-94	ABCG2 Pharmacogenetics: Ethnic Differences inAllele Frequency and Assessment of Influence on Irinotecan Disposition		603756	14933	2	2004	 The ABCG2 421C>A polymorphism appears to play a limited role in the disposition of irinotecan in European Caucasians. It is likely that the contribution of this genetic variant is obscured by a functional role of other polymorphic proteins.	Cohort 88/94/938/95/84 American Caucasians (n=88), African Americans (n=94), Africans (n=938), Han Chinese (n=95), and European Caucasian (n=84) patients treated with irinotecan undergoing additional blood sampling for pharmacokinetic studies 										
114780		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	4	4q22	ABCG2	89230439	89371498		Zhou, Q.  et al. 2005	15801936				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDPinfo	9429	Hs.480218			British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		603756	23953	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
114781		nelfinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Seropositivity	4	4q22	ABCG2	89230439	89371498		Colombo, S.  et al. 2005	16041239				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDPinfo	9429	Hs.480218			Pharmacogenetics and genomics. 2005 Sep;15(9):599-608	Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo.		603756	25814	2	2005	 There was no significant association between cellular nelfinavir area under the curve (AUC) and SNPs or haplotypes at ABCC1, ABCC2, ABCG2. There was an association with cellular exposure for two loci in strong linkage disequilibrium: ABCB1 3435C>T; AUCTT>AUCCT>AUCCC (ratio 2.1, 1.4, 1, Ptrend=0.01), and intron 26 +80T>C; AUCCC> AUCCT > AUCTT (ratio 2.4, 1.3, 1, Ptrend=0.006). Haplotypic analysis using tagging SNPs did not improve the single SNP association values.											
114776		kidney cancer	CANCER	CAN		4	4q22	ABCG2	89230439	89371498		Bosch, T. M.  et al. 2005	15813675				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2	Dutch		CDC GDPinfo	9429	Hs.480218			American journal of pharmacogenomics. 2005 ;5(2):123-31	Detection of single nucleotide polymorphisms in the ABCG2 gene in a Dutch population.		603756	8279	2	2005	 The results will be used in future studies to explore the influence of the different SNPs on ABCG2 protein expression, activity, and substrate specificity. In addition, the results can be used to study the effects of genetic polymorphisms in the ABCG2 gene on the pharmacokinetic profile of anticancer drugs.	Cohort 100 healthy volunteers 										
114777	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	4	4q22	ABCG2	89230439	89371498		Korenaga, Y.  et al. 2005	15906349				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDPinfo	9429	Hs.480218			International journal of cancer. Journal international du cancer. 2005 Nov;117(3):431-4	Association of the BCRP C421A polymorphism with nonpapillary renal cell carcinoma.		603756	8280	2	2005	These data suggest that BCRP is a candidate RCC susceptibility gene.	Control:200 healthy control subjects;Case:200 nonpapillary nonpapillary renal cell carcinoma:patients										
114778	Y	cancer	CANCER	CAN		4	4q22	ABCG2	89230439	89371498		Sparreboom, A.  et al. 2004	15229462				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDPinfo	9429	Hs.480218			Clinical pharmacology and therapeutics. 2004 Jul;76(1):38-44	Diflomotecan pharmacokinetics in relation to ABCG2 421C>A genotype.		603756	14932	2	2004	 These findings provide the first evidence linking variant ABCG2 alleles to altered drug exposure and suggest that interindividual variability in substrate drug effects might be influenced, in part, by ABCG2 genotype.	Cohort 22 adult white patients with cancer 	diflomotecan									
114772		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Wang, H.  et al. 2004	14728986				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Molecular genetics and metabolism. 2004 Jan;81(1):15-Sep	alpha-Endosulfine, a positional and functional candidate gene for type 2 diabetes: molecularscreening, association studies, and role in reduced insulin secretion		600509	14930	2	2004	Our data do not suggest that ENSA could explain the linkage of T2DM to this region, but ENSA SNP 17 may have an important role in reducing the ability of the beta-cell to compensate for reduced insulin sensitivity, which in turn would increase the susceptibility to T2DM.	Cohort 16/16 Caucasian (n=16) and African-American (n=16) diabetic individuals 										
114773	N	glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	11	11p15.1	ABCC8	17371007	17455025		van Dam, R. M.  et al. 2005	15842514				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2		Netherlands	CDC GDPinfo	6833	Hs.54470			Diabetic medicine. 2005 May;22(5):590-8	Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studiesand meta-analyses.		600509	14931	2	2005	 The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently associated with Type 2 diabetes.											
114774	N	bipolar affective disorder.	PSYCH	PSY	Bipolar Disorder	21	21q22.3	ABCG1	42492867	42590423	n	Kirov G et al. 2001	11673795				ATP-binding cassette, sub-family G (WHITE), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207630	Bipolar affective disorder		KGB	9619	Hs.124649			Molecular psychiatry. 2001 Nov;6(6):671-7	Screening ABCG1 the human homologue of the Drosophila white gene for polymorphisms and association with bipolar affective disorder.		603076	6643	1	2001												
114769	N	diabetes, type 2; beta-cell function	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Hansen, T.  et al. 2001	11692183			promoter	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Diabetologia. 2001 Oct;44(10):1330-4	Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus		600509	14927	2	2001	We have identified a novel a/t polymorphism of the SUR1 gene promoter which is not associated with Type II diabetes mellitus or measures of beta-cell function. Previous reported non-functional variants of SUR1 associated with Type II diabetes mellitus still need to be accounted for.	Control:203 glucose tolerant control subjects matched for age;Case:455 unrelated Type II diabetic patients										
114770		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	ABCC8	17371007	17455025		Reis, A. F.  et al. 2002	11938023				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Diabetes & metabolism. 2002 Feb;28(1):14-9	Sulfonylurea receptor -1 (SUR1): genetic andmetabolic evidences for a role in the susceptibility to type 2 diabetes mellitus		600509	14928	2	2002	Review article											
114771	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Gloyn, A. L.  et al. 2003	12540637				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Diabetes. 2003 Feb;52(2):568-72	Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes		600509	14929	2	2003	Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles.	Control:1,182 population control subjects;Case:854 subjects with type 2 diabetes:UK										
114766		glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Genetic Predisposition to Disease	11	11p15.1	ABCC8	17371007	17455025		Laukkanen, O.  et al. 2004	15579791				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	Finnish		CDC GDPinfo	6833	Hs.54470			The Journal of clinical endocrinology and metabolism. 2004 Dec;89(12):6286-90	Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study.		600509	8277	2	2004	We conclude that  the polymorphisms of the SUR1 gene predicted the conversion from impaired glucose tolerance to type 2 diabetes and that the effect of these polymorphisms on diabetes risk was additive with the E23K polymorphism of the Kir6.2 gene.	Cohort 490 subjects with impaired glucose tolerance participating in the Finnish Diabetes Prevention Study 										
114767	Y	diabetes, gestational	METABOLIC	MET		11	11p15.1	ABCC8	17371007	17455025		Niu, X. M.  et al. 2005	15840308				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Zhonghua fu chan ke za zhi. 2005 Mar;40(3):159-63	[Study on association between gestational diabetes mellitus and sulfonylurea receptor-1 gene polymorphism]		600509	8278	2	2005	 There are -3t-->c and A/G polymorphism of SUR1 gene in the Han nationality. Alleles c of SUR1 are significantly implicated in the susceptibility to GDM. It suggests that the defect in SUR1 gene (cc and AA) may contribute to insulin hypersecretion, which might be the cause of increased body weight and decreased insulin sensitivity and genotype cc of SUR1 is connected with severe type of GDM. It might be the predictable index of GDM conversion to type 2 diabetes.	Case:35 pregnant women with gestational diabetes;Control:35/35 normal pregnant women (n=35) and patietns with type 2 diabetes at the same time as the pregnant women with gestational diabetes (n=35)										
114768		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Gloyn, A. L.  et al. 2001	11318841			promoter	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Diabetic medicine. 2001 Mar;18(3):206-12	Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).		600509	14926	2	2001	 There is no support at present for mutations in either Kir6.2 or SUR1 promoter sequences contributing to Type 2 diabetes. However, the minimal promoter region of SUR1 has yet to be investigated. The E23K variant of Kir6.2 is associated with Type 2 diabetes mellitus in the UKPDS cohort.	Control:328 normoglycemic controls;Case:364 type 2 diabetics										
114762	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	ABCC8	17371007	17455025		Daimon M 2003	12646233				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	Japanese	Japan	Y Wang	6833	Hs.54470			Biochemical and biophysical research communications. 2003 Mar;302(4):751-8	Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.		600509	5683	1	2003												
114764		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Zychma, M.  et al. 2002	12118200				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2		Poland	CDC GDPinfo	6833	Hs.54470			Medical science monitor. 2002 Jul;8(7):CR512-5	Sulfonylurea receptor gene 16-3 polymorphism - association with sulfonylurea or insulin treatment in type 2 diabetic subjects.		600509	8275	2	2002	 Our study provides evidence against a major impact of the SUR1 c16-3t polymorphism on the long-term effectiveness of therapy with sulfonylurea derivatives in type 2 diabetic patients.	Cohort 68/99 ype 2 diabetic patients who required insulin treatment with diabetes duration L 5 years(n=68) and patients receiving oral agents (sulfonylurea with or without metformin or acarbose, n=99) 	sulfonylurea									
114765		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Owecki, M.  et al. 2003	12879777				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDPinfo	6833	Hs.54470			Pol Arch Med Wewn. 2003 Feb;109(2):143-8	[Polymorphism of the sulfonylurea receptor gene in type 2 diabetes mellitus]		600509	8276	2	2003	Polymorphism of exon 22 of SUR1 gene appeared more frequent in diabetic than in non-diabetic subjects but this was statistically not significant.	Case:42 patients with type 2 diabetes;Control:46 controls with proper glucose tolerance										
114758		diabetes, type 2	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Rissanen J et al. 2000	10857971				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			KGB	6833	Hs.54470			Diabetes care. 2000 Jan;23(1):70-3	Sulfonylurea receptor 1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin.		600509	5679	1	2000	 These results suggest that a functional variant that contributes to the risk of GDM and type 2 diabetes may locate close to the SUR1 gene.											
114760		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Owecki M 2003	12879777				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			Y Wang	6833	Hs.54470			Pol Arch Med Wewn. 2003 Feb;109(2):143-8	Polymorphism of the sulfonylurea receptor gene in type 2 diabetes mellitus , trans Polimorfizm eksonu 22 genu receptora dla sulfonylomocznika w cukrzycy typu 2.		600509	5681	1	2003	Polymorphism of exon 22 of SUR1 gene appeared more frequent in diabetic than in non-diabetic subjects but this was statistically not significant.	Case:42 patients with type 2 diabetes;Control:46 controls with proper glucose tolerance										
114761		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	ABCC8	17371007	17455025		Meirhaeghe A 2001	11343328				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	French		Y Wang	6833	Hs.54470	Complications		American journal of medical genetics. 2001 Jun;101(1):8-Apr	Impact of sulfonylurea receptor 1 genetic variability on non-insulin-dependent diabetes mellitus prevalence and treatment: a population study.		600509	5682	1	2001												
114754		cancer	CANCER	CAN		10	10q24	ABCC2	101532492	101601571		Mathijssen, R. H.  et al. 2003	12960109				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		601107	23952	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
114756	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Inoue H et al. 1996	8635661				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	caucasian	Utah|Great Britain	KGB	6833	Hs.54470			Diabetes. 1996 Jun;45(6):825-31	Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.		600509	5677	1	1996												
114757	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Hart LM et al. 1999	10333056	exon 16-3t			ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	caucasian	Netherlands	KGB	6833	Hs.54470			Diabetologia. 1999 May;42(5):617-20	Variants in the sulphonylurea receptor gene: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians.		600509	5678	1	1999	We conclude that  multiple haplotypes on the SUR1 gene seem to confer a risk for developing Type II diabetes in Caucasians.											
114751		pravastatin kinetics	PHARMACOGENOMIC	PHARM		10	10q24	ABCC2	101532492	101601571		Niemi, M.  et al. 2004	15226675				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			Pharmacogenetics. 2004 Jul;14(7):429-40	High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1).		601107	20231	2	2004	No significant associations were found between OATP-B, MRP2 or MDR1 polymorphisms and the pharmacokinetics of pravastatin. These results suggest that haplotypes are more informative in predicting the OATP-C phenotype than single SNPs.	Cohort 41 healthy Caucasian volunteers who had previously participated in pharmacokinetic studies with pravastatin 	pravastatin									
114752		cardiotoxicity, anthracycline-induced	CARDIOVASCULAR	CARD	Heart Diseases|Drug Toxicity	10	10q24	ABCC2	101532492	101601571		Wojnowski, L.  et al. 2005	16330681				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			Circulation. 2005 Dec;112(24):3754-62	NAD(P)H Oxidase and Multidrug Resistance Protein Genetic Polymorphisms Are Associated With Doxorubicin-Induced Cardiotoxicity		601107	20232	2	2005	 Genetic variants in doxorubicin transport and free radical metabolism may modulate the individual risk to develop ACT.											
114753		nelfinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Seropositivity	10	10q24	ABCC2	101532492	101601571		Colombo, S.  et al. 2005	16041239				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			Pharmacogenetics and genomics. 2005 Sep;15(9):599-608	Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo.		601107	23951	2	2005	 There was no significant association between cellular nelfinavir area under the curve (AUC) and SNPs or haplotypes at ABCC1, ABCC2, ABCG2. There was an association with cellular exposure for two loci in strong linkage disequilibrium: ABCB1 3435C>T; AUCTT>AUCCT>AUCCC (ratio 2.1, 1.4, 1, Ptrend=0.01), and intron 26 +80T>C; AUCCC> AUCCT > AUCTT (ratio 2.4, 1.3, 1, Ptrend=0.006). Haplotypic analysis using tagging SNPs did not improve the single SNP association values.											
114748	Y	drug metabolism	METABOLIC	MET		10	10q24	ABCC2	101532492	101601571		Itoda M et al. 2002	11901087			promoter	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1	Japanese		KGB	1244	Hs.368243			Drug metabolism and disposition:  the biological fate of chemicals. 2002 Apr;30(4):363-4	Polymorphisms in the ABCC2 (cMOAT/MRP2) gene found in 72 established cell lines derived from Japanese individuals: an association between single nucleotide polymorphisms in the 5'-untranslated region and exon 28.		601107	1331	1	2002												
114749		bilirubin	METABOLIC	MET		10	10q24	ABCC2	101532492	101601571		Ieiri, I.  et al. 2004	15519273				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			Hepatology research. 2004 Oct;30(2):91-95	Influence of common variants in the pharmacokinetic genes (OATP-C, UGT1A1, and MRP2) on serum bilirubin levels in healthy subjects.		601107	20100	2	2004	Large clinical studies are needed to confirm a role of OATP-C in the carrier-mediated uptake of bilirubin in the human liver.	Cohort 23 volunteers 										
114750		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	10	10q24	ABCC2	101532492	101601571		Zhou, Q.  et al. 2005	15801936				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDPinfo	1244	Hs.368243			British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		601107	20230	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
114744	Y	cardiotoxicity, anthracycline-induced	CARDIOVASCULAR	CARD	Heart Diseases|Drug Toxicity	16	16p13.1	ABCC1	15950934	16143774		Wojnowski, L.  et al. 2005	16330681				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDPinfo	4363	Hs.391464			Circulation. 2005 Dec;112(24):3754-62	NAD(P)H Oxidase and Multidrug Resistance Protein Genetic Polymorphisms Are Associated With Doxorubicin-Induced Cardiotoxicity		158343	8274	2	2005	 Genetic variants in doxorubicin transport and free radical metabolism may modulate the individual risk to develop ACT.											
114745		asthma	IMMUNE	IMM	Asthma	16	16p13.1	ABCC1	15950934	16143774		Lima, J. J.  et al. 2005	16293801				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDPinfo	4363	Hs.391464			American journal of respiratory and critical care medicine. 2006 Feb;173(4):379-85	Influence of Leukotriene Pathway Polymorphisms on Response to Montelukast in Asthma.		158343	8631	2	2005												
114746		nelfinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Seropositivity	16	16p13.1	ABCC1	15950934	16143774		Colombo, S.  et al. 2005	16041239				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDPinfo	4363	Hs.391464			Pharmacogenetics and genomics. 2005 Sep;15(9):599-608	Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo.		158343	20228	2	2005	 There was no significant association between cellular nelfinavir area under the curve (AUC) and SNPs or haplotypes at ABCC1, ABCC2, ABCG2. There was an association with cellular exposure for two loci in strong linkage disequilibrium: ABCB1 3435C>T; AUCTT>AUCCT>AUCCC (ratio 2.1, 1.4, 1, Ptrend=0.01), and intron 26 +80T>C; AUCCC> AUCCT > AUCTT (ratio 2.4, 1.3, 1, Ptrend=0.006). Haplotypic analysis using tagging SNPs did not improve the single SNP association values.											
114741		cholestasis	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms|Cholestasis, Intrahepatic|Pregnancy Complications	7	7q21.1	ABCB4	86869296	86942955		Pauli-Magnus, C.  et al. 2004	15077010				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2		Germany	CDC GDPinfo	5244	Hs.287827			Pharmacogenetics. 2004 Feb;14(2):91-102	Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy		171060	20227	2	2004	Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis.	Case:21 women with intrahepatic cholestasis of pregnancy Apr 2001 - Apr 2003;Control:40 women with uneventful pregnancies										
114742	N	GRACILE syndrome	METABOLIC	MET	Cholestasis|Renal Aminoacidurias|Abnormalities, Multiple|Acidosis, Lactic|Syndrome|Genetic Predisposition to Disease|Growth Disorders	2	2q36	ABCB6	219782737	219793418		Visapaa, I. = I et al. 2002	11977179				ATP-binding cassette, sub-family B (MDR/TAP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005689.1			CDC GDPinfo	10058	Hs.107911			American journal of medical genetics. 2002 May;109(3):202-5	ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis		605452	14922	2	2002	Based on these data, ABCB6 is not the causative gene for GRACILE syndrome.	Case patients with GRACILE syndrome;Control not specified in abstract										
114743		GRACILE syndrome	METABOLIC	MET		16	16p13.1	ABCC1	15950934	16143774		Oselin, K.  et al. 2003	12856092				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2	Japanese		CDC GDPinfo	4363	Hs.391464			European journal of clinical pharmacology. 2003 Aug;59(4):347-50	Frequency of MRP1 genetic polymorphisms and their functional significance in Caucasians: detection ofa novel mutation G816A in the human MRP1 gene.		158343	8273	2	2003	 The genotypic results observed show an ethnic difference in the frequencies of the MRP1 genetic polymorphisms between Japanese and Caucasians. Further studies are required to better understand the clinical consequences of the MRP1 genetic variants.	Cohort 230 healthy Caucasians 										
114738		cholestasis	METABOLIC	MET	Cholestasis|Pregnancy Complications	7	7q21.1	ABCB4	86869296	86942955		Eloranta, M.  et al. 2002	12206920				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2	Finnish	Finland	CDC GDPinfo	5244	Hs.287827			European journal of obstetrics, gynecology, and reproductive biology. 2002 Sep;104(2):109-12	Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.		171060	10400	2	2002	 The present data indicate that polymorphism of the ERalpha gene and MDR3 gene 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest.	Control:47 healthy control women;Case:57 women with diagnosis of obsteric cholestasis										
114739	Y	cholelithiasis	METABOLIC	MET	Cholelithiasis|Liver Diseases	7	7q21.1	ABCB4	86869296	86942955		Rosmorduc, O.  et al. 2003	12891548				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2			CDC GDPinfo	5244	Hs.287827			Gastroenterology. 2003 Aug;125(2):452-9	ABCB4 gene mutation-associated cholelithiasis in adults.		171060	14919	2	2003	 Our results show that ABCB4 gene mutations represent a major genetic risk factor in a symptomatic and recurring form of cholelithiasis in young adults.	Cohort 32/28/33 paitients with symptomatic cholelithiasis (n=320), with classic gallstone disease (n=28) and patients without a history of cholelithiasis 										
114740		cirrhosis, biliary primary; cholangitis, sclerosing	OTHER	OTH	Liver Cirrhosis, Biliary|Cholangitis, Sclerosing	7	7q21.1	ABCB4	86869296	86942955		Pauli-Magnus, C.  et al. 2004	14999697				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2			CDC GDPinfo	5244	Hs.287827			Hepatology (Baltimore, Md). 2004 Mar;39(3):779-91	BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.		171060	20226	2	2004	In conclusion, this study provides an analysis of BSEP and MDR3 variant segregation and haplotype structure in a Caucasian population. Although an impact of rare variants on BSEP and MDR3 function cannot be ruled out, our data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of PBC and PSC.	Control:149 Caucasian control individuals;Case:76/46 primary biliary chirrhosis (n=76) and primary sclerosing cholangitis (n=46) patients										
114735		cholestasis	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms|Cholestasis, Intrahepatic|Pregnancy Complications	2	2q24	ABCB11	169487694	169596079		Pauli-Magnus, C.  et al. 2004	15077010				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2		Germany	CDC GDPinfo	8647	Hs.158316			Pharmacogenetics. 2004 Feb;14(2):91-102	Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy		603201	14921	2	2004	Our data further support an involvement of MDR3 genetic variation in the pathogenesis of ICP, whereas analysis of BSEP sequence variation indicates that this gene is probably less important for the development of pregnancy-associated cholestasis.	Case:21 women with intrahepatic cholestasis of pregnancy Apr 2001 - Apr 2003;Control:40 women with uneventful pregnancies										
114736	Y	cholelithiasis	METABOLIC	MET	Cholelithiasis|Liver Diseases	7	7q21.1	ABCB4	86869296	86942955		Rosmorduc O 2003	12891548				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2			KGB	5244	Hs.287827			Gastroenterology. 2003 Aug;125(2):452-9	ABCB4 gene mutation-associated cholelithiasis in adults.		171060	4962	1	2003	 Our results show that ABCB4 gene mutations represent a major genetic risk factor in a symptomatic and recurring form of cholelithiasis in young adults.	Cohort 32/28/33 paitients with symptomatic cholelithiasis (n=320), with classic gallstone disease (n=28) and patients without a history of cholelithiasis										
114737		cholestasis	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications	7	7q21.1	ABCB4	86869296	86942955		Eloranta, M.  et al. 2002	12381474				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2	Finnish	Finland	CDC GDPinfo	5244	Hs.287827			European journal of obstetrics, gynecology, and reproductive biology. 2002 Nov;105(2):132-5	Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alpha gene polymorphisms in Finnish women with obstetric cholestasis.		171060	8272	2	2002	 The present data indicate that polymorphism of the ERalpha and MDR3 genes 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women. Further work to identify explanatory factors is of particular interest.	Control:47 healthy control women;Case:57 women with diagnosis of obstetric cholestasis										
114732		central nervous system relapse	NEUROLOGICAL	NEUR	Leukemia, Lymphocytic, Acute|Central Nervous System Neoplasms|Recurrence	7	7q21.1	ABCB1	86970883	87180500		Stanulla, M.  et al. 2005	15717687				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of hematology. 2005 Jan;81(1):39-44	GSTP1 and MDR1 genotypes and central nervous system relapse in childhood acute lymphoblastic leukemia.		171050	17052	2	2005	These results suggested a modulating role for host genetic variation in the development of CNS relapse in childhood ALL treated according to Berlin-Frankfurt-Munster protocols.	Case childhood acute lymphoblastic leukemia cases with central nervous system relapse;Control matched controls	chemotherapy	GSTP1	Val105	MDR1	3435T/T	MDR1	C/T	Y		central nervous system relapse
114733	Y	cholestasis	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications|Genetic Predisposition to Disease	2	2q24	ABCB11	169487694	169596079		Eloranta, M. L.  et al. 2003	12825874				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2			CDC GDPinfo	8647	Hs.158316			Scandinavian journal of gastroenterology. 2003 Jun;38(6):648-52	Association of single nucleotide polymorphisms of the bile salt export pump gene with intrahepatic cholestasis of pregnancy.		603201	8271	2	2003	 The use of two intragenic SNPs in both single locus and haplotype analyses of association suggests that the BSEP gene is a susceptibility gene in intrahepatic cholestasis of pregnancy.	Control:115 healthy control pregnant women;Case:57 intrahepatic cholestatis of pregnancy individuals										
114734		cirrhosis, biliary primary; cholangitis, sclerosing	OTHER	OTH	Liver Cirrhosis, Biliary|Cholangitis, Sclerosing	2	2q24	ABCB11	169487694	169596079		Pauli-Magnus, C.  et al. 2004	14999697				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2			CDC GDPinfo	8647	Hs.158316			Hepatology (Baltimore, Md). 2004 Mar;39(3):779-91	BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.		603201	14920	2	2004	In conclusion, this study provides an analysis of BSEP and MDR3 variant segregation and haplotype structure in a Caucasian population. Although an impact of rare variants on BSEP and MDR3 function cannot be ruled out, our data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of PBC and PSC.	Control:149 Caucasian control individuals;Case:76/46 primary biliary chirrhosis (n=76) and primary sclerosing cholangitis (n=46) patients										
114729		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Zhou, Q.  et al. 2005	15801936				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		171050	16257	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
114730		HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Haas, D. W.  et al. 2005	16267764				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The Journal of infectious diseases. 2005 Dec;192(11):1931-42	Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials GroupStudy.		171050	16265	2	2005	 Genetic variants predict plasma exposure to efavirenz and nelfinavir, and they may predict virologic failure and/or emergence of drug-resistant virus. These associations with treatment responses must be validated in other studies.		efavirenz nelfinavir									
114731		hypercholesterolemia; drug hypersensitivity	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500			16321621				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2005 Nov;78(5):551-8	The role of common variants of ABCB1, CYP3A4, and CYP3A5 genes in lipid-lowering efficacy and safety of simvastatin treatment		171050	16266	2	2005	 Our data suggest an association of ABCB1 gene polymorphisms and the efficacy and safety of simvastatin.		simvastatin									
114726		cholesterol, HDL; cholesterol, LDL; leukemia; 9-hydroxyrisperidone; risperidone	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Goh, B. C.  et al. 2002	12202670				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical oncology. 2002 Sep;20(17):3683-90	Explaining interindividual variability of docetaxel pharmacokinetics and pharmacodynamics in Asians through phenotyping and genotyping strategies.		171050	16238	2	2002	 Midazolam may be used as a probe drug for CYP3A activity to predict docetaxel clearances, hence reducing interindividual variability. Homozygotes for CYP3A5*3 and C3435T of MDR1 are common in our population, and their effects on pharmacokinetics of relevant substrates should be studied further.	Cohort 32 patients 	docetaxelMidazolam									
114727		cancer	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Mathijssen, R. H.  et al. 2003	12960109				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		171050	16242	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
114728		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Central Nervous System Diseases	7	7q21.1	ABCB1	86970883	87180500		Haas, D. W.  et al. 2004	15622315				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	African American		CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2004 Dec;18(18):2391-400	Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical TrialsGroup study.		171050	16255	2	2004	 A CYP2B6 allelic variant that is more common in African-Americans than in Europeans-Americans was associated with significantly greater efavirenz plasma exposure during HIV therapy. Inter-individual differences in metabolism may, in part, explain susceptibility to efavirenz central nervous system side effects.	Cohort 89/50/15 European-Americans (n=89), African-Americans (n=50) and Hispanics (n=15) HIV infected subjects in a 24 week cohort 										
114723	N	ABT-773 plasma levels	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Katz, D. A.  et al. 2004	15179406				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2004 Jun;75(6):516-28	CYP3A5 genotype has a dose-dependent effect on ABT-773 plasma levels.		171050	16227	2	2004	 These results suggest that CYP3A5 genotype may be an important determinant of in vivo drug disposition and that this effect may be dose-dependent.	Cohort healthy volunteers given 3 different oral dose levels of ABT-773 	ABT-773									
114724		liver transplant	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Goto, M.  et al. 2004	15226679	CYP3A5*1			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 Jul;14(7):471-8	CYP3A5*1-carrying graft liver reduces the concentration/oral dose ratio of tacrolimus in recipients of living-donor liver transplantation.		171050	16229	2	2004	 These results indicate that in recipients of LDLT, the pharmacokinetics of tacrolimus is influenced by flux via P-glycoprotein in the intestine during the first week; after that, it is mostly the hepatic metabolism that contributes to the excretion of tacrolimus, and carriers of the CYP3A5*1/*1 genotype require a high dose of tacrolimus to achieve the target concentration.	Cohort liver donor and recipient pairs 	tacrolimus									
114725		HIV infection	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Fellay, J.  et al. 2002	11809184				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Lancet. 2002 Jan;359(9300):30-6	Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: apharmacogenetics study.		171050	16235	2	2002	The polymorphism MDR1(ABCB1) 3435 C/T predicts immune recovery after initiation of antiretroviral treatment. This finding suggests that P-glycoprotein has an important role in admittance of antiretroviral drugs to restricted compartments in vivo.	Cohort 123 HIV-1-infected patients 	antiretroviral									
114719	N	talinolol pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Zhang, W. X.  et al. 2005	16170863				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese		CDC GDPinfo	5243	Hs.489033			Clinica chimica acta; international journal of clinical chemistry. 2005 Sep;359(2-Jan):46-52	MDR1 genotype do not influence the absorption of a single oral dose of 100 mg talinolol in healthy Chinese males.		171050	14917	2	2005	 The linked MDR1 polymorphisms in exon 21 G2677T/A and exon 26 C3435T apparently did not contribute to the absorptive pharmacokinetics of a single oral dose of 100 mg talinolol.											
114720		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500			16374256				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Inflammatory bowel diseases. 2006 Jan;12(1):33-7	MDR1 Gene: Susceptibility in Spanish Crohn'sDisease and Ulcerative Colitis Patients		171050	14918	2	2006	 New evidence supports the role of the MDR1 gene on CD susceptibility. Therefore, considering our results and those from others, the MDR1 gene behaves as a common risk factor for both CD and UC. We discovered that the C3435 allele conferring susceptibility to CD is different from the described 3435T UC risk allele.											
114722		kidney transplant complications	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Yates, C. R.  et al. 2003	12817518				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical pharmacology. 2003 Jun;43(6):555-64	The effect of CYP3A5 and MDR1 polymorphic expression on cyclosporine oral disposition in renal transplant patients.		171050	16223	2	2003	Thus, the MDR1 C3435T genotype offers a potential mechanistic basis to explain interracial differences in CsA oral bioavailability. Further studies are needed to explore the relationship between CYP3A5 and MDR1 genotype and phenotype.	Cohort 19 renal transplant recipients 	cyclosporin A									
114715		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.1	ABCB1	86970883	87180500		Bercovich, D.  et al. 2005	16002074				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Atherosclerosis. 2006 Mar;185(1):97-107	The association of common SNPs and haplotypes in the CETP and MDR1 genes with lipids response to fluvastatin in familial hypercholesterolemia.		171050	14913	2	2005	 CETP and MDR1 have independent effects on lipid changes following fluvastatin treatment. The results of this study may lead to an improved understanding of the genetic determinants of lipids response to treatment.		fluvastatin									
114716		seizures	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Hung, C. C.  et al. 2005	16004559				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenomics. 2005 Jun;6(4):411-417	Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response.		171050	14914	2	2005			antiepileptic drugs									
114717		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Thompson, J. F.  et al. 2005	16103896				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The pharmacogenomics journal. 2005 ;5(6):352-8	An association study of 43 SNPs in 16 candidate genes with atorvastatin response.		171050	14915	2	2005			atorvastatin fluvastatin lovastatin pravastatin simvastatin									
114712		graft-versus-host disease	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Zheng, H. X.  et al. 2005	15814280				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Transplant immunology. 2005 Mar;14(1):37-42	The impact of pharmacogenomic factors on acute persistent rejection in adult lung transplant patients.		171050	14910	2	2005	This is the first report of the association of a drug disposition genotype with drug-resistant acute rejection in organ transplant patients. The major predictor of acute persistent rejection in the first postoperative year for lung transplant patients was the MDR1 C3435T genotype. This association could be due to drug resistance, altered drug disposition or other immunologic effects associated with P-glycoprotein (P-gp) function. Future prospective treatment algorithms should be developed that will incorporate the knowledge of gene polymorphisms into treatment regimens to improve the outcome following lung transplantation.	Cohort 125 adult lung tansplant patients 										
114713	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q21.1	ABCB1	86970883	87180500		Kivisto, K. T.  et al. 2005	15952872				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Finland	CDC GDPinfo	5243	Hs.489033			American journal of pharmacogenomics. 2005 ;5(3):191-5	CYP3A5 genotype is associated with diagnosis of hypertension in elderly patients: data from theDEBATE Study.		171050	14911	2	2005	 This work lends support to the theory that the polymorphic CYP3A5 enzyme may be involved in regulation of blood pressure. The possible role of CYP3A5 as a genetic contributor to hypertension susceptibility warrants further study.											
114714		repaglinide pharmacokinetics	UNKNOWN	UNK		7	7q21.1	ABCB1	86970883	87180500		Niemi, M.  et al. 2005	15961978				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2005 Jun;77(6):468-78	Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics.		171050	14912	2	2005	 Genetic polymorphism in SLCO1B1 is a major determinant of interindividual variability in the pharmacokinetics of repaglinide. The effect of SLCO1B1 polymorphism on the pharmacokinetics of repaglinide may be clinically important.											
114709		lung transplant	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Zheng, H.  et al. 2005	15778421				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical pharmacology. 2005 Apr;45(4):404-10	Sequential analysis of tacrolimus dosing in adult lung transplant patients with ABCB1 haplotypes.		171050	14907	2	2005	In conclusion, sequential analysis of tacrolimus [L/D] with haplotypes can explain previous clinical observations of changes in tacrolimus dosage over time but suggests that this effect is limited to individual patient haplotypes. Sequential analysis of drug dosing and haplotypes relationships can provide important information about the induction or inhibition of drug-drug and disease-drug interactions among specific haplotypes.	Cohort 91 adult lung transplant patients 	tacrolimus									
114710		dicloxacillin pharmacokinetics	UNKNOWN	UNK		7	7q21.1	ABCB1	86970883	87180500		Putnam, W. S.  et al. 2005	15778422				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical pharmacology. 2005 Apr;45(4):411-21	Effect of the MDR1 C3435T variant and P-glycoprotein induction on dicloxacillin pharmacokinetics.		171050	14908	2	2005	The C3435T variant had no effect on dicloxacillin pharmacokinetics. The data suggested that rifampin induced intestinal P-glycoprotein and increased dicloxacillin metabolism.	Cohort 18 healthy volunteers 	rifampin									
114711		cyclosporine pahrmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Jiao, Z.  et al. 2004	15813023				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Yao xue xue bao. 2004 Dec;39(12):971-4	[Effect of MDR1 polymorphic expression on oral disposition of cyclosporine A]		171050	14909	2	2004	 The MDR1 C3435T genotype offers a potential basis of mechanism to explain inter-subject differences in CsA oral bioavailability.	Cohort 20 healthy subjects 										
114706	Y	HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Saitoh, A.  et al. 2005	15750390				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2005 Mar;19(4):371-80	An MDR1-3435 variant is associated with higher plasma nelfinavir levels and more rapid virologic response in HIV-1 infected children.		171050	14904	2	2005	 HIV-1 infected children with the MDR1-3435-C/T genotype had more rapid virologic responses to HAART at week 8 with higher plasma nelfinavir concentrations compared to those with the C/C genotype. These findings suggest that P-gp may play an important role in the pharmacokinetics and virologic response to HAART containing nelfinavir.	Cohort 71 HIV-1 infected children 	efavirenz nelfinavir reverse transcriptase inhibitors									
114707		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.1	ABCB1	86970883	87180500		Tan, E. K.  et al. 2005	15767512				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese		CDC GDPinfo	5243	Hs.489033			Archives of neurology. 2005 Mar;62(3):460-4	Effect of MDR1 haplotype on risk of Parkinson disease.		171050	14905	2	2005	 An MDR1 haplotype containing SNPs e21/2677T and e26/3435T protects against PD in ethnic Chinese, compatible with the observation of a recent positive selection of the T alleles of these 2 SNPs in this ethnic population.	Case:185 Chinese Parkinson's disease patients Hong Kong;Control:206 control subjects										
114708	Y	cyclosporine nephrotoxicity	PHARMACOGENOMIC	PHARM	Kidney Diseases|Genetic Predisposition to Disease|Postoperative Complications	7	7q21.1	ABCB1	86970883	87180500		Hauser, I. A.  et al. 2005	15772250				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of the American Society of Nephrology. 2005 May;16(5):1501-11	ABCB1 genotype of the donor but not of the recipient is a major risk factor for cyclosporine-related nephrotoxicity after renal transplantation.		171050	14906	2	2005	A dominant role of the donor's ABCB1 genotype was identified for development of CsA nephrotoxicity. This suggests that P-glycoprotein is an important factor in CsA nephrotoxicity.	Case:18 renal transplant patients who developed cyclosporine nephrotoxicity;Control:79 renal transplant patients whodidn't developed cyclosporine nephrotoxicity										
114703		epilepsy; anticoagulant complications	NEUROLOGICAL	NEUR	Vision Disorders|Genetic Predisposition to Disease|Mental Disorders	7	7q21.1	ABCB1	86970883	87180500		Clark, D. W.  et al. 2004	15588114				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Drug safety. 2004 ;27(15):1171-84	Linking pharmacovigilance with pharmacogenetics.		171050	14901	2	2004	Although no differences in the distribution of genotypes in the case and control populations were found in this small study, case-control studies investigating genetic risks for ADRs using drug cohorts from PEM studies are possible, and there are several areas where population-based studies of genetic risk factors for ADRs are needed.Examples are discussed where research in large populations											
114704		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	7	7q21.1	ABCB1	86970883	87180500		Ho, G. T.  et al. 2005	15685540				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Scottish		CDC GDPinfo	5243	Hs.489033			Gastroenterology. 2005 Feb;128(2):288-96	Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis		171050	14902	2	2005	 Allelic variations of the MDR1 gene determine disease extent as well as susceptibility to UC in the Scottish population. The present data strongly implicate the C3435T SNP, although the 2-locus haplotype data underline the need for further detailed haplotypic studies.	Case:335/268 Scottish white cohort (335 with ulcerative colitis, 268 with Crohn's disease):Scotland;Control:370 healthy controls										
114705		renal cancer; morphine response	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Darimont, J.  et al. 2005	15704610				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of clinical pharmacology and therapeutics. 2005 Jan;43(1):17-22	Comparison of two screening methods for in-house genotyping in clinical pharmacology units.		171050	14903	2	2005	Although both methods were found suitable for rapid SNP detection, Pyrosequencing was the preferred method since it provides the nucleotide sequence directly thus facilitating interpretation.	Case:130 DNA samples										
114700		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Sclerosis	7	7q21.1	ABCB1	86970883	87180500		Zimprich, F.  et al. 2004	15452305				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Austria	CDC GDPinfo	5243	Hs.489033			Neurology. 2004 Sep;63(6):1087-9	Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy.		171050	14898	2	2004	They identified a common haplotype that when present in the homozygous state significantly increased the risk for pharmacoresistance.	Cohort 210 patients with TLE who were stratified according to their degree of drug resistance 	anti-epileptic									
114701	N	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Mai, I.  et al. 2004	15521904				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			British journal of clinical pharmacology. 2004 Nov;58(5):548-53	MDR1 haplotypes derived from exons 21 and 26 do not affect the steady-state pharmacokinetics of tacrolimus in renal transplant patients.		171050	14899	2	2004	 MDR1 haplotypes derived from the SNPs 2677G > T (exon 21) and 3435C > T (exon 26) do not influence the pharmacokinetics of tacrolimus in renal transplant patients.	Cohort 73 renal transplant patients 										
114702		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.1	ABCB1	86970883	87180500		Tan, E. K.  et al. 2004	15542248				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Poland	CDC GDPinfo	5243	Hs.489033			Neuroscience letters. 2004 Dec;372(3):240-4	Analysis of MDR1 haplotypes in Parkinson's disease in a white population.		171050	14900	2	2004	There was a weak protective effect of the haplotype 2677G-3435C in our white population. However, the MDR1 haplotypes did not generally modulate the risk of PD.	Control:139 healthy controls;Case:158 Parkinson's disease patients										
114697		HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Winzer, R.  et al. 2003	14711599				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			European journal of medical research. 2003 Dec;8(12):531-4	No influence of the P-glycoprotein Genotype (MDR1 C3435T) on Plasma Levels of Lopinavir and Efavirenz during Antiretroviral Treatment		171050	14895	2	2003	 We did not find evidence for an influence of the MDR1 3435 genotype on plasma levels of LPV and EFV.	Cohort 67 HIV patients 	efavirenz lopinavir									
114698	N	9-hydroxyrisperidone; risperidone	PHARMACOGENOMIC	PHARM	Schizophrenia	7	7q21.1	ABCB1	86970883	87180500		Yasui-Furukori, N.  et al. 2004	15089809				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			British journal of clinical pharmacology. 2004 May;57(5):569-75	Effects of various factors on steady-state plasma concentrations of risperidone and 9-hydroxyrisperidone: lack of impact of MDR-1genotypes.		171050	14896	2	2004	 These findings suggest that the MDR-1 variants are not associated with steady-state plasma concentration of risperidone or 9-hydroxyrisperidone, but CYP2D6 genotypes and age are determinants of these concentrations.	Cohort 85 schizophrenic patients 										
114699		drug hypersensitivity	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Hitzl, M.  et al. 2004	15115917				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 May;14(5):309-18	Variable expression of P-glycoprotein in the human placenta and its association with mutations of the multidrug resistance 1 gene (MDR1, ABCB1).		171050	14897	2	2004	Taken together, the MDR1 polymorphisms C3435T and G2677T are associated with altered P-glycoprotein expression in the human placenta, and may have clinical consequences due to genetically determined, variable drug exposure of the fetus.	Cohort 73 full-term human placentas of Caucasians 										
114694	N	P-glycoprotein substrate loperamide	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Pauli-Magnus, C.  et al. 2003	14586389				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2003 Nov;74(5):487-98	No effect of MDR1 C3435T variant on loperamide disposition and central nervous system effects.		171050	14892	2	2003	 There was no association between the MDR1 C3435T variation and plasma levels or central nervous system effects of the P-glycoprotein substrate loperamide in a white study population. The MDR1 haplotype structure was quite variable and supports the use of haplotypes instead of single nucleotide polymorphisms in determining clinical consequences of genetic variation.	Cohort 16 healthy white volunteers 	loperamide									
114695		irinotecan, renal clearance of	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Sai, K.  et al. 2003	14646693				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese		CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2003 Dec;13(12):741-57	Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan.		171050	14893	2	2003	These findings suggest that the P-glycoprotein encoded by ABCB1/MDR1 in the proximal tubules plays a substantial role in renal exclusion of drugs and, moreover, that block-haplotyping is valuable for pharmacogenetic studies.	Cohort 145 Japanese subjects 	Irinotecan									
114696		anticoagulant complications	METABOLIC	MET	Hemorrhage	7	7q21.1	ABCB1	86970883	87180500		Wadelius, M.  et al. 2003	14676821				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The pharmacogenomics journal. 2004 ;4(1):40-8	Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors.		171050	14894	2	2003	CYP3A5 did not affect warfarin dosing. An ABCB1 haplotype containing the exon 26 3435T variant was over-represented among low-dose patients. Thirty-six patients with serious bleeding complications had higher prothrombin time international normalised ratios than 189 warfarin-treated patients without serious bleeding, but there were no significant differences in CYP2C9, CYP3A5 or ABCB1 genotypes and allelic variants.	Cohort 201 stable warfarin-treated patients 	warfarin									
114691		leukemia, childhood acute; hypertension	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Verstuyft, C.  et al. 2003	12805007				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Annales de biologie clinique. 2003 May-Jun;61(3):305-9	[A new, rapid and robust genotyping method for CYP2C9 and MDR1]		171050	14889	2	2003	Allelic discrimination assays based on fluorescent PCR gave entire satisfaction for CYP2C9 and MDR1 genotyping. This reliable genotyping strategy can be easily used in clinical practice and should be further developed for additional SNPs identification.	Cohort 16/55 subjects with previously identified CYP2C9 (n=16) and ABCB1 (n=55) genotypes 										
114692	Y	loperamide concentration	PHARMACOGENOMIC	PHARM	Miosis	7	7q21.1	ABCB1	86970883	87180500		Skarke, C.  et al. 2003	14583678				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2003 Nov;13(11):651-60	Effects of ABCB1 (multidrug resistance transporter) gene mutations on disposition and central nervous effects of loperamide in healthy volunteers.		171050	14890	2	2003	 Our data support a functional importance of the ABCB1 mutations for plasma concentrations and central nervous actions of the opioid loperamide.	Cohort 20 healthy volunteers 	loperamide									
114693	Y	kidney dysfunction	RENAL	REN	Kidney Diseases|Postoperative Complications	7	7q21.1	ABCB1	86970883	87180500		Hebert, M. F.  et al. 2003	14583679				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Washington	CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2003 Nov;13(11):661-74	Association between ABCB1 (multidrug resistance transporter) genotype and post-liver transplantation renal dysfunction in patients receiving calcineurin inhibitors.		171050	14891	2	2003	 Based on these results, we conclude that homozygosity for the ABCB1 2677T (S893) allele is associated with reduced risk of chronic renal dysfunction among liver transplantation patients receiving an immunosuppressive regimen containing CNIs.	Case liver transplant patients with renal dysfunction;Control liver transplant patients without renal dysfunction	calcineurin inhibitors									
114688		digoxin, serum concentration	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Gerloff, T.  et al. 2002	12492608				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			British journal of clinical pharmacology. 2002 Dec;54(6):610-6	MDR1 genotypes do not influence the absorption of a single oral dose of 1 mg digoxin in healthy white males.		171050	14886	2	2002	 This lack of effect of the major MDR1 SNPs on digoxin absorption might be explained by saturation of the maximum transport capacity of intestinal Pgp at the dose used.	Cohort 50 healthy Caucasian male subjects between the age of 18 and 40 years 	digoxin									
114689		9-hydroxyrisperidone; risperidone	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Bernal, M. L.  et al. 2003	12548153				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Spanish		CDC GDPinfo	5243	Hs.489033			Therapeutic drug monitoring. 2003 Feb;25(1):107-11	Frequency Distribution of C3435T Mutation in Exon 26 of the MDR1 Gene in a Spanish Population		171050	14887	2	2003	With regard the C-allele frequency, which has been studied in several populations, the result in their population was 52%, significantly lower ( < 0.0001) than that found in African populations and similar to several Asian and Caucasian (UK) populations ( > 0.05). By contrast, the C-allele frequency in southwest Asian, German, and Portuguese populations was significantly lower than in the Spanish population ( < 0.001, < 0.01, and < 0.05, respectively). The great differences found between their population and others, such as the African and southwest Asian populations, could have important therapeutic implications when drugs that are a substrate of PGP are used.	Cohort 408 people in a Spanish population 										
114690	Y	digoxin, serum concentration	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Moritra, Y.  et al. 2003	12739761				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese		CDC GDPinfo	5243	Hs.489033			Pharmaceutical research. 2003 Apr;20(4):552-6	MDR1 genotype-related duodenal absorption rate of digoxin in healthy Japanese subjects.		171050	14888	2	2003	 The C3435T mutation of the MDR1 gene is associated with suppression of duodenal absorption of digoxin.	Cohort healthy Japanese subjects 	digoxin									
114685		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	7	7q21.1	ABCB1	86970883	87180500		Humma, L. M.  et al. 2002	12116890				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		171050	14883	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
114686		P-glycoprotein	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Siegmund, W.  et al. 2002	12426521				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2002 Nov;72(5):572-83	The effects of the human MDR1 genotype on the expression of duodenal P-glycoprotein and disposition of the probe drug talinolol.		171050	14884	2	2002	 We did not identify any influence of MDR1 genotypes on duodenal expression of P-glycoprotein and disposition of talinolol in humans.	Cohort healthy white volunteers 	talinol									
114687		digoxin, serum concentration	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Johne, A.  et al. 2002	12426522				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2002 Nov;72(5):584-94	Modulation of steady-state kinetics of digoxin by haplotypes of the P-glycoprotein MDR1 gene.		171050	14885	2	2002	 Haplotype 12 codes for high values of AUC(0-4) and C(max) of orally administered digoxin. Analysis of MDR1 haplotypes is superior to unphased SNP analysis to predict MDR1 phenotype.	Cohort 80/8/8 healthy male homozygous (CC, n=80), heterozygous (CT, n=8) and homozygous (TT, n=8) carriers of the ABCB1 exon-26 343C>T polymorphism 	digoxin									
114682		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Ameyaw, M. M.  et al. 2001	11337937				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2001 Apr;11(3):217-21	MDR1 pharmacogenetics: frequency of the C3435Tmutation in exon 26 is significantly influenced by ethnicity.		171050	14880	2	2001	The high frequency of the C allele in the African group implies overexpression of PGP and may have important therapeutic and prognostic implications for use of PGP dependent drugs in individuals of African origin.	Cohort 1280 subjects from 10 different ethnic groups 										
114683		P-glycoprotein expression, placental	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Tanabe, M.  et al. 2001	11356939				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese		CDC GDPinfo	5243	Hs.489033			The Journal of pharmacology and experimental therapeutics. 2001 Jun;297(3):1137-43	Expression of P-glycoprotein in human placenta:relation to genetic polymorphism of the multidrug resistance (MDR)-1 gene.		171050	14881	2	2001	When genotype results were compared between Caucasians and Japanese, ethnic differences in the frequency of polymorphism in the MDR-1 gene were suspected. Although it remains to be determined whether these SNPs influence the pharmacokinetic and dynamic properties of clinically useful drugs that are substrates of PGP, the polymorphism of the MDR-1 gene presented here may provide useful information in in vivo study of these issues.	Cohort 100 placentas obtained from Japanese women Japan 										
114684		digoxin, serum concentration	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Sakaeda, T.  et al. 2001	11697464				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese		CDC GDPinfo	5243	Hs.489033			Pharmaceutical research. 2001 Oct;18(10):1400-4	MDR1 genotype-related pharmacokinetics of digoxin after single oral administration in healthy Japanese subjects		171050	14882	2	2001	 The serum concentration of digoxin after single oral administration was lower in the subjects harboring a mutant allele (C3435T) at exon 26 of the MDR1 gene.	Cohort 114 healthy volunteers 	digoxin									
114679		liver transplant; prostate cancer; premature ovarian failure; lupus nephritis	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Gervasini, G.  et al. 2005	16306861				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Therapeutic drug monitoring. 2005 Dec;27(6):819-21	Differences in CYP3A5*3 Genotype Distribution and Combinations With Other Polymorphisms Between Spaniards and Other Caucasian Populations.		171050	10033	2	2005												
114680		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Isla, D.  et al. 2004	15277258				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Annals of oncology. 2004 Aug;15(8):1194-203	Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer		171050	10354	2	2004	 Patients homozygous for the ERCC1 118 C allele demonstrated a significantly better survival. ERCC1 SNP assessment could be an important component of tailored chemotherapy trials.	Cohort 62 docetaxel-cisplatin-treated advanced non-small-cell lung cancer patients 	cisplatin docetaxel									
114681		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Sclerosis	7	7q21.1	ABCB1	86970883	87180500		Zimprich, F.  et al. 2004	15452305				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Austria	CDC GDPinfo	5243	Hs.489033			Neurology. 2004 Sep;63(6):1087-9			171050	14879	2	2004	They identified a common haplotype that when present in the homozygous state significantly increased the risk for pharmacoresistance.		anti-epileptic									
114676		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Ovarian Neoplasms|Thrombocytopenia|Leukopenia|Nausea|Vomiting	7	7q21.1	ABCB1	86970883	87180500		Nakajima, M.  et al. 2005	15901749				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese	Japan	CDC GDPinfo	5243	Hs.489033			Journal of clinical pharmacology. 2005 Jun;45(6):674-82	Pharmacokinetics of paclitaxel in ovarian cancer patients and genetic polymorphisms of CYP2C8, CYP3A4, and MDR1.		171050	10024	2	2005	Genotyping of the CYP2C8, CYP3A4, and MDR1 genes might not be essential to predict adverse effects of paclitaxel in Japanese patients, although an allelic variant of MDR1 may functionally affect the pharmacokinetics of its metabolite.	Cohort Japanese ovarian cancer patients 										
114677		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Chowbay, B.  et al. 2005	15931768				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		171050	10025	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
114678		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Henningsson, A.  et al. 2005	16299241				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical cancer research. 2005 Nov;11(22):8097-104	Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel.		171050	10032	2	2005	 This study indicates that the presently evaluated variant alleles in the CYP2C8, CYP3A4, CYP3A5, and ABCB1 genes do not explain the substantial interindividual variability in paclitaxel pharmacokinetics.											
114673		HIV; CYP3A activity; prostate cancer	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Cavaco, I.  et al. 2003	14580164				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Portuguese		CDC GDPinfo	5243	Hs.489033			Clinical chemistry and laboratory medicine. 2003 Oct;41(10):1345-50	CYP3A4 and MDR1 alleles in a Portuguese population.		171050	10015	2	2003	We observed a frequency of 4.0% for CYP3A4*1B, not significantly different from that reported on other Caucasian European populations. CYP3A4*2 was found at an allele frequency of 4.5%, constituting the first report of the presence of this allele outside the Finnish population. Significant differences were found concerning the MDR1 C3435T SNP frequency (64.5%) compared with other European populations, while no differences were found concerning G2677T (47.5%) or T-129C (5%) SNPs. Linkage between the C3435T and G2677T SNPs was observed, although not as evidently as documented in other Caucasian populations. No preferential associations were detected between CYP3A4 and MDR1 alleles.	Cohort Portuguese Caucasians 										
114674		kidney transplant; cyclospoine pharmacokinetics; heart transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Hesselink, D. A.  et al. 2004	15592326				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2004 Dec;76(6):545-56	Population pharmacokinetics of cyclosporine in kidney and heart transplant recipients and the influence of ethnicity and genetic polymorphisms in the MDR-1, CYP3A4, and CYP3A5 genes.		171050	10017	2	2004	 Patients carrying a CYP3A4*1B variant allele have a significantly higher oral cyclosporine clearance compared with patients homozygous for CYP3A4*1 . However, this genetic effect on cyclosporine disposition was small, and genotyping of transplant recipients for CYP3A4 is thus unlikely to assist in planning initial cyclosporine dosing.	Cohort 151 heart and kidney transplant recipients 										
114675		renal transplant	UNKNOWN	UNK		7	7q21.1	ABCB1	86970883	87180500		Anglicheau, D.  et al. 2005	15707415				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			American journal of transplantation. 2005 Mar;5(3):595-603	Consequences of genetic polymorphisms for sirolimus requirements after renal transplant in patients on primary sirolimus therapy.		171050	10021	2	2005	These findings suggest that the variations in SRL requirements are secondary to both genetic and non-genetic factors including pharmacokinetic interactions. In patients with SRL-based therapy, genotyping of the CYP3As genes may help to optimize the SRL management in transplant recipients.	Cohort 149 renal transplant recipients 	sirolimus									
114670		kidney transplant; tacrolium pharmacokinetic	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Zhang, X.  et al. 2005	16146556				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical transplantation. 2005 Oct;19(5):638-43	Influence of CYP3A5 and MDR1 polymorphisms on tacrolimus concentration in the early stage after renal transplantation.		171050	9997	2	2005	 CYP3A5*1/*3 polymorphisms are associated with tacrolimus pharmacokinetics and dose requirements in renal transplant recipients. Pharmacogenetic methods could be employed prospectively to help initial dose selection and to individualize immunosuppressive therapy.		tacrolimus									
114671		kidney transplant complications	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Hesselink, D. A.  et al. 2003	12966368				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2003 Sep;74(3):245-54	Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus.		171050	10011	2	2003	 As a group, patients with the CYP3A5*3/*3 genotype require less tacrolimus to reach target predose concentrations compared with CYP3A5*1 allele carriers, whereas CYP3A4*1B carriers require more tacrolimus to reach target trough concentrations compared with CYP3A4*1 homozygotes.	Cohort 110/64 kidney transplant recipients receiving cyclosporine (n = 110) or tacrolimus (n = 64) 	cyclosporine tacrolimus									
114672		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	7	7q21.1	ABCB1	86970883	87180500		Kishi, S.  et al. 2003	12969965				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Blood. 2004 Jan;103(1):67-72	Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.		171050	10012	2	2003	The UGT1A1 6/6 genotype predicted lower catechol AUC. Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race.	Cohort children with acute lymphoblastic leukemia 	prednisone									
114666		atazanavir pharmacokinetics; hyperbilirubinemia	PHARMACOGENOMIC	PHARM	HIV Infections|Genetic Predisposition to Disease|Hyperbilirubinemia	7	7q21.1	ABCB1	86970883	87180500			16355344				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical infectious diseases. 2006 Jan;42(2):291-5	Plasma Levels of Atazanavir and the Risk of Hyperbilirubinemia Are Predicted by the 3435C-->T Polymorphism at the Multidrug Resistance Gene 1		171050	8267	2	2006			atazanavir									
114668	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q21.1	ABCB1	86970883	87180500			16386826				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Progress in neuro-psychopharmacology & biological psychiatry. 2005	Association between multidrug resistance 1 (MDR1) gene polymorphisms and therapeutic response to bromperidol in schizophrenic patients: Apreliminary study		171050	8269	2	2005			broomperidol									
114669		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500			16386926				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDPinfo	5243	Hs.489033			Seizure. 2006 Jan;15(1):67-72	Single nucleotide polymorphisms in the multidrug resistance 1 gene in Korean epileptics		171050	8270	2	2005	 In Korean epileptics, there was no significant relationship between three known SNPs in MDR1 and drug resistance. And there was no association of MDR1 haplotype based on above three sites with pharmacoresistance.											
114662	Y	HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Verstuyft, C.  et al. 2005	16284462				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2005 Dec;19(18):2127-31	Absence of association between MDR1 genetic polymorphisms, indinavir pharmacokinetics and response to highly active antiretroviral therapy.		171050	8263	2	2005	 Our results do not support an association between MDR1 genetic polymorphisms and modelled IDV clearance or clinical response to HAART.		indinavir lamivudine nevirapine stavudine									
114663		cytokine release	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500			16321374	C3435T, G2677T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			European journal of pharmacology. 2005 Dec;528(3-Jan):27-36	Involvement of C3435T and G2677T multidrug resistance gene polymorphisms in release of cytokines from peripheral blood mononuclear cells treated with methotrexate and dexamethasone		171050	8264	2	2005			dexamethasone methotrexate									
114665	Y	leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	7	7q21.1	ABCB1	86970883	87180500		Kim, D. H.  et al. 2005	16331627				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of cancer Journal international du cancer. 2005	Multidrug resistance-1 gene polymorphisms associated with treatment outcomes in de novo acute myeloid leukemia		171050	8266	2	2005			chemotherapy									
114659		leukemia	CANCER	CAN	Leukemia|Acute Disease	7	7q21.1	ABCB1	86970883	87180500		Kaya, P.  et al. 2005	16138358				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Turkish	Turkey	CDC GDPinfo	5243	Hs.489033			American journal of hematology. 2005 Sep;80(1):26-34	Identification of polymorphisms on the MDR1 gene among Turkish population and their effects on multidrug resistance in acute leukemia patients.		171050	8260	2	2005			chemotherapy									
114660		phenytoin	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Allabi, A. C.  et al. 2005	16220110				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics and genomics. 2005 Nov;15(11):779-86	CYP2C9, CYP2C19, ABCB1 (MDR1) genetic polymorphisms and phenytoin metabolism in a Black Beninese population.		171050	8261	2	2005												
114661		tacrolimus pharmacokinetics; sirolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Mourad, M.  et al. 2005	16249748				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Transplantation. 2005 Oct;80(7):977-84	Sirolimus and Tacrolimus Trough Concentrations and Dose Requirements after Kidney Transplantation in Relation to CYP3A5 and MDR1 Polymorphisms and Steroids.		171050	8262	2	2005	 Unlike tacrolimus, sirolimus adjusted trough concentrations and dose requirements seem not affected by CYP3A5 and MDR1 polymorphisms. Adjusted-prednisone dose has a significant impact on tacrolimus and sirolimus dose requirements.											
114654		colorectal cancer	CANCER	CAN	Colonic Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Kurzawski, M.  et al. 2005	15912392				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			European journal of clinical pharmacology. 2005 Jul;61(6-May):389-94	Polymorphism in the P-glycoprotein drug transporter MDR1 gene in colon cancer patients.		171050	8255	2	2005	 Genetic testing for C3435T MDR1 gene polymorphism may be a suitable test to evaluate the risk for colon cancer in patients under 50 years of age.	Control:188 healthy unrelated controls;Case:194 unrelated sporadic colon cancer patients										
114656		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Miller, K. L.  et al. 2005	15947495				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Neuroepidemiology. 2005 ;25(2):85-90	The C3435T polymorphism of MDR1 and susceptibility to adult glioma.		171050	8257	2	2005	 Although the C3435T polymorphism does not appear to be associated with other types of glioma, we cannot rule out that this MDR1 polymorphism may be associated with glioblastoma among men.											
114657		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastroesophageal Reflux|Duodenal Ulcer|Stomach Ulcer	7	7q21.1	ABCB1	86970883	87180500		Gawronska-Szklarz, B.  et al. 2005	15976989				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			European journal of clinical pharmacology. 2005 Jul;61(6-May):375-9	Effect of CYP2C19 and MDR1 polymorphisms on cure rate in patients with acid-related disorders with Helicobacter pylori infection.		171050	8258	2	2005			amoxycillin clarithromycin metronidazole omeprazole pantoprazole									
114651		cholesterol, HDL	METABOLIC	MET	HIV Infections|Hypercholesterolemia|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Alonso-Villaverde, C.  et al. 2005	15718846				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2005 Feb;19(3):341-2	The efavirenz-induced increase in HDL-cholesterol is influenced by the multidrug resistance gene 1 C3435T polymorphism.		171050	8252	2	2005			efavirenz									
114652	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Sills, G. J.  et al. 2005	15857428	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Epilepsia. 2005 May;46(5):643-7	Lack of association between the C3435T polymorphism in the human multidrug resistance (MDR1) gene and response to antiepileptic drug treatment.		171050	8253	2	2005	 This study failed to corroborate a previously reported association between the C3435T polymorphism in the human MDR1 gene and pharmacoresistant epilepsy. Whether the C3435T polymorphism can act as a marker for the natural history of treated epilepsy remains to be determined.	Cohort 400 patients, irrespective of seizure type or drug treatment 	antiepileptic									
114653	N	kidney transplant	IMMUNE	IMM	Tremor	7	7q21.1	ABCB1	86970883	87180500		Kotrych, K.  et al. 2005	15886424				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacological reports. 2005 Mar-Apr;57(2):241-5	MDR1 gene polymorphism in allogeenic kidney transplant patients with tremor.		171050	8254	2	2005	No statistically significant correlation between MDR1 gene polymorphism C3435T and tremor was found. The tremor group and the control group were characterized by similar distribution of MDR1 genotypes, i.e. 3435CC, 3435CT, 3435TT.	Case:23 unrelated postransplant kidney patients;Control:95 randomly selected posttransplant individuals with no signs of tremor										
114648		HIV	INFECTION	INF	HIV Seropositivity	7	7q21.1	ABCB1	86970883	87180500		Winzer, R.  et al. 2005	15659247				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Annals of clinical microbiology and antimicrobials [electronic resource]. 2005 ;4:3	No influence of the P-glycoprotein polymorphisms MDR1 G2677T/A and C3435T on the virological and immunological response in treatment naive HIV-positive patients		171050	8249	2	2005	 In view of different results from several studies concerning the influence of MDR1 polymorphisms on the immunological and virological response to antiretroviral therapy, further studies with larger patient groups and longer follow-up are necessary in order to resolve conflicting issues.	Cohort 74 HIV patients in whom antiretroviral therapy was initiated between 1998 and 2004 	antiretroviral									
114649	N	lymphoproliferative disorders	OTHER	OTH	Leukemia, Lymphocytic, Chronic|Lymphoma, Non-Hodgkin|Lymphoproliferative Disorders	7	7q21.1	ABCB1	86970883	87180500		Goreva, O. B.  et al. 2004	15665957				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Russian	Russia	CDC GDPinfo	5243	Hs.489033			Bulletin of experimental biology and medicine. 2004 Oct;138(4):404-6	MDR1 Gene C1236T and C6+139T polymorphisms in the Russian population: associations withpredisposition to lymphoproliferative diseases and drug resistance.		171050	8250	2	2004	Comparison of genotyping results in 53 patients and the data on the efficiency of drug therapy showed no significant associations of C(6+139)T and C(1236)T genotypes with drug resistance.	Case:53 lymphoproliferative disease patients	drug therapy									
114650		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	7	7q21.1	ABCB1	86970883	87180500		Kimura, Y.  et al. 2005	15690482				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis.		171050	8251	2	2005	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
114645		thrombosis	CARDIOVASCULAR	CARD		7	7q21.1	ABCB1	86970883	87180500		Ostrovsky, O.  et al. 2004	15570194	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Jewish		CDC GDPinfo	5243	Hs.489033			Therapeutic drug monitoring. 2004 Dec;26(6):679-84	Genotype and allele frequencies of C3435T polymorphism of the MDR1 gene in various Jewish populations of Israel.		171050	8246	2	2004	These data may have important therapeutic and prognostic implication for P-gp-SYrelated drug dosage recommendation in Jewish populations.	Cohort 500 individuals from 5 Jewish populations of Israel (Ashkenazi, Yemenite, North African, Mediterranean, Near-Eastern) Israel 										
114646		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	7	7q21.1	ABCB1	86970883	87180500		Kimura, Y.  et al. 2004	15690482				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis		171050	8247	2	2004	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
114647		HIV	INFECTION	INF	HIV Infections|Cell Transformation, Viral	7	7q21.1	ABCB1	86970883	87180500		Zhu, D.  et al. 2004	15651752				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Japan	CDC GDPinfo	5243	Hs.489033			Antiviral therapy. 2004 Dec;9(6):929-35	Influence of single-nucleotide polymorphisms in the multidrug resistance-1 gene on the cellular export of nelfinavir and its clinical implication for highly active antiretroviral therapy		171050	8248	2	2004	As in vitro results were not consistent with the clinical evaluation, clinical importance of MDR1 genotyping for antiretroviral therapy remains to be investigated in a larger, case-controlled study.	Cohort 79 Japanese HIV patients 	antiretroviral									
114642	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	7	7q21.1	ABCB1	86970883	87180500		Potocnik, U.  et al. 2004	15505619				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Genes and immunity. 2004 Nov;5(7):530-9	Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis		171050	8243	2	2004	Our results suggest that MDR1 is a potential target for therapy in refractory CD patients and in patients with UC.	Case:144/163 patients with ulcerative colitis (n=144) and patients with Crohn's disease (n=163):Slovenia;Control:355 healthy controls										
114643		fexofenadine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Yi, S. Y.  et al. 2004	15536457				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2004 Nov;76(5):418-27	A variant 2677A allele of the MDR1 gene affects fexofenadine disposition.		171050	8244	2	2004	 The plasma concentrations of fexofenadine after a single oral administration were lower in 2677AA/3435CC subjects than in subjects with the other 5 genotype combinations of the SNPs of G2677T/A and C3435T. These findings confirm the importance of analyzing MDR1 haplotypes and provide a plausible explanation for the conflicting results regarding the effect of MDR1 polymorphisms on the disposition of P-gp substrates.	Cohort 232 healthy Koreans Cohort 33 healthy Korean male volunteers 										
114644		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Wielandt, A. M.  et al. 2004	15543762				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Rev Med Chil. 2004 Sep;132(9):1061-8	[Polymorphisms of the multiple drug resistance gene (MDR1) in Mapuche, Mestizo and Maori populations in Chile]		171050	8245	2	2004	 We found significant differences in the frequencies of genetic polymorphisms of the MDR1 gene in Chilean populations, related to the ethnic origins of our ancestors.	Cohort 104/96/52 										
114639	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Sclerosis	7	7q21.1	ABCB1	86970883	87180500		Tan, N. C.  et al. 2004	15452306				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Victoria	CDC GDPinfo	5243	Hs.489033			Neurology. 2004 Sep;63(6):1090-2	Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy.		171050	8240	2	2004	The authors suggest the initial association may have arisen by chance.	Control:208 drug-responsive subjects with epilepsy;Case:401 drug resistant subjects with epilepsy										
114640		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Pawlik, A.  et al. 2004	15487808				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of clinical pharmacology and therapeutics. 2004 Sep;42(9):496-503	The MDR1 3435 polymorphism in patients with rheumatoid arthritis.		171050	8241	2	2004	 We suggest that the C3435T MDR1 polymorphism is not an important genetic risk factor for RA susceptibility, but that this polymorphism may have an influence on the activity of the disease and its response to therapy with disease-modifying antirheumatic drugs.	Case:92 patietns with rheumatoid arthritis;Control:97 healthy subjects										
114641		kidney transplant	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Tsuchiya, N.  et al. 2004	15502717				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Transplantation. 2004 Oct;78(8):1182-7	Influence of CYP3A5 and MDR1 (ABCB1) polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients.		171050	8242	2	2004	 Kidney transplant recipients with the CYP3A5 *1 allele required a higher daily tacrolimus dose compared with those with the CYP3A5 *3/*3 genotype to maintain both the target trough level and AUC0-12, suggesting that this polymorphism is useful for determining the appropriate dose of tacrolimus.	Cohort 30 consecutive recipients of renal transplants 	tacrolimus									
114636	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Pola, R.  et al. 2004	15288699				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Italian	Italy	CDC GDPinfo	5243	Hs.489033			Experimental gerontology. 2004 Aug;39(8):1249-52	Monocyte chemoattractant protein-1 (MCP-1) gene polymorphism and risk of Alzheimer's disease in Italians.		171050	8237	2	2004	These findings indicate that the -2518 A/G polymorphism of the MCP-1 gene is associated with AD in Italians and confirm that inflammatory gene variations may be important contributors in the development and progression of NEUROLOGICALenerative disorders.	Control:controls;Case Italian Alzheimer's disease patients										
114637	N	gingival overgrowth	UNKNOWN	UNK	Gingival Overgrowth	7	7q21.1	ABCB1	86970883	87180500		Drozdzik, M.  et al. 2004	15312098				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical periodontology. 2004 Sep;31(9):758-63	P-glycoprotein drug transporter MDR1 gene polymorphism in renal transplant patients with and without gingival overgrowth.		171050	8238	2	2004	 No association between the MDR1 gene polymorphism and gingival overgrowth was revealed in kidney transplant patients administered cyclosporine A as a principal immunosuppressive agent. Further studies are needed to elucidate the role of P-glycoprotein in drug transport in salivary glands.	Control:120 control transplant patients without overgrowth;Case:54 unrelated kidney transplant patients suffering from gingival overgrowth										
114638		vincristine pharmacokinetics	UNKNOWN	UNK	Leukemia, Lymphocytic, Acute, L1	7	7q21.1	ABCB1	86970883	87180500		Plasschaert, S. L.  et al. 2004	15371983				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2004 Sep;76(3):220-9	Influence of functional polymorphisms of the MDR1 gene on vincristine pharmacokinetics in childhood acute lymphoblastic leukemia.		171050	8239	2	2004	 The genetic variants in the MDR1 gene alone cannot explain the large variability in vincristine pharmacokinetics.	Cohort 52 of 70 children with acute lymphoblastic leukemia who participated in a previous study on vincristine pharmacokinetics 										
114633	Y	pravastatin kinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Niemi, M.  et al. 2004	15226675				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 Jul;14(7):429-40	High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1).		171050	8234	2	2004	No significant associations were found between OATP-B, MRP2 or MDR1 polymorphisms and the pharmacokinetics of pravastatin. These results suggest that haplotypes are more informative in predicting the OATP-C phenotype than single SNPs.	Cohort 41 healthy Caucasian volunteers who had previously participated in pharmacokinetic studies with pravastatin 	pravastatin									
114634		cardiotoxicity	CARDIOVASCULAR	CARD		7	7q21.1	ABCB1	86970883	87180500		Meissner, K.  et al. 2004	15247630				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 Jun;14(6):381-5	Modulation of multidrug resistance P-glycoprotein 1 (ABCB1) expression in human heart by hereditary polymorphisms.		171050	8235	2	2004	 The present study based on auricular samples suggests that genetic factors play a rather limited role in modulating P-gp expression in human heart. Therefore, the substantial interindividual variability in cardiac P-gp expression is likely related to environmental or disease related factors.	Cohort 51 patients undergoing coronary artery bypass graft surgery 										
114635	Y	liver transplant	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Bonhomme-Faivre, L.  et al. 2004	15257034	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Transplantation. 2004 Jul;78(1):21-5	MDR-1 C3435T polymorphism influences cyclosporine a dose requirement in liver-transplant recipients.		171050	8236	2	2004	 These findings demonstrate that the MDR1 exon 26 C3435T polymorphism is a major determinant of CsA concentration/dose ratio in liver-transplant recipients and is predictive of the dose of CsA to be administered to achieve the target C(2) concentration.	Cohort 44 liver-transplant recipients during 1 month after transplantation 										
114630		HIV; CYP3A activity	INFECTION	INF		7	7q21.1	ABCB1	86970883	87180500		Eap, C. B.  et al. 2004	15083070				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 Apr;14(4):255-60	CYP3A activity measured by the midazolam test is not related to 3435 C>T polymorphism in the multiple drug resistance transporter gene		171050	8231	2	2004	The existence of a strong association between the activity of CYP3A and MDR13435 C>T and 2677 G>T polymorphisms appears unlikely, at least in Caucasian populations and/or in the absence of specific environmental factors.	Case HIV positive patients;Control healthy subjects:Cohort:21 healthy subjects	Midazolam									
114631		kidney transplant complications	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Anglicheau, D.  et al. 2004	15116055				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2004 May;75(5):422-33	CYP3A5 and MDR1 genetic polymorphisms and cyclosporine pharmacokinetics after renal transplantation.		171050	8232	2	2004	 The presence of the CYP3A5 SNP does not explain the high variability of cyclosporine pharmacokinetics in stable renal transplant patients. Despite the weak association found for the MDR1 C1236T SNP, MDR1 SNPs are unlikely to be useful for cyclosporine dose optimization in clinical practice.	Cohort 106 renal transplant patients 	cyclosporin A									
114632		kidney transplant complications	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Haufroid, V.  et al. 2004	15167702				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2004 Mar;14(3):147-54	The effect of CYP3A5 and MDR1 (ABCB1) polymorphisms on cyclosporine and tacrolimus dose requirements and trough blood levels in stable renal transplant patients		171050	8233	2	2004	Given the importance of rapidly achieving target blood concentrations after transplantation, further prospective studies should consider the immediate post-graft period and assess the influence of this specific polymorphism. Beside non-genetic factors (e.g. steroids dosing, drugs interactions), CYP3A5 pharmacogenetic testing performed just before transplantation could contribute to a better individualization of immunosuppressive therapy.	Cohort 50/50 stable renal transplant recipients receiving cyclosporine (n = 50) or tacrolimus (n = 50) 	cyclosporine tacrolimus									
114627	N	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	7	7q21.1	ABCB1	86970883	87180500		Bleiber, G.  et al. 2004	14767809				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The Journal of infectious diseases. 2004 Feb;189(4):583-6	MDR1 genetic polymorphism does not modify either cell permissiveness to HIV-1 or disease progression before treatment.		171050	8228	2	2004	Differences in physiological levels of MDR1 expression did not modify HIV-1 infection in vitro, nor did MDR1 alleles and haplotypes significantly influence either permissiveness to infection in vitro or disease progression in vivo before the initiation of treatment.	Cohort 411 HIV-1 infeced individuals 										
114628		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Jamroziak, K.  et al. 2004	15059065	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Poland	CDC GDPinfo	5243	Hs.489033			European journal of haematology. 2004 May;72(5):314-21	Functional C3435T polymorphism of MDR1 gene: animpact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia.		171050	8229	2	2004	In conclusion, the results of the present study provide evidence that C3435T MDR1 polymorphism may involve both the susceptibility to and the clinical outcome of childhood ALL. Carriers of the TT genotype are more at risk of developing ALL than other individuals, whereas CC genotype carriers are supposed to have worse prognosis.	Case:113 children with ALL (median age 5.1 yr);Control:175 healthy individuals of Polish Caucasian origin										
114629		hypercholesterolemia	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Kajinami, K.  et al. 2004	15081455				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The American journal of cardiology. 2004 Apr;93(8):1046-50	Polymorphisms in the multidrug resistance-1 (MDR1) gene influence the response to atorvastatin treatment in a gender-specific manner.		171050	8230	2	2004	The C3435T polymorphism was significantly and independently associated with a smaller reduction in low-density lipoprotein cholesterol and with a larger increase in high-density lipoprotein cholesterol, relative to variant allele carriers, in a gender-specific manner. Also, haplotype determination combined with these polymorphisms identified a subgroup that showed a striking response to treatment, which was not defined by a single polymorphism.	Cohort 344 hypercholesterolemic patients treated with atorvastin 	atorvastatin									
114624	Y	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Brant, S. R.  et al. 2003	14610718				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		North America	CDC GDPinfo	5243	Hs.489033			American journal of human genetics. 2003 Dec;73(6):1282-92	MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.		171050	8225	2	2003	Taken together, these data support the association of the common Ala893 polymorphism with IBD specifically and, more broadly, provides additional support for its contribution to interindividual pharmacogenetic variation.											
114625		lymphoproliferative disorders	OTHER	OTH	Leukemia, Lymphoid|Lymphoma, Non-Hodgkin|Leukemia, Lymphoid	7	7q21.1	ABCB1	86970883	87180500		Goreva, O. B.  et al. 2003	14631505				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Bulletin of experimental biology and medicine. 2003 Aug;136(2):183-5	Possible Prediction of the Efficiency of Chemotherapy in Patients with Lymphoproliferative Diseases Based on MDR1 Gene G2677T and C3435T Polymorphisms		171050	8226	2	2003	Association between genotypes G2677T and C3435T was detected in normal subjects and in patients with lymphoproliferative diseases.	Control normal subjects;Case patients with lymphoproliferative diseases										
114626	Y	lung transplant complications	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Zheng, H.  et al. 2004	14747421				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of clinical pharmacology. 2004 Feb;44(2):135-40	Tacrolimus dosing in adult lung transplant patients is related to cytochrome P4503A5 gene polymorphism.		171050	8227	2	2004	The authors therefore conclude that tacrolimus dosing in adult lung transplant patients is associated with CYP3A5 gene polymorphisms.	Cohort adult lung transplant patients who had been followed for at least 1 year after lung transplantation 										
114621		kidney transplant complications	IMMUNE	IMM	Osteonecrosis|Femur Head Necrosis	7	7q21.1	ABCB1	86970883	87180500		Asano, T.  et al. 2003	14583680	C3435T, G2677T/A			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Japan	CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2003 Nov;13(11):675-82	ABCB1 C3435T and G2677T/A polymorphism decreased the risk for steroid-induced osteonecrosis of the femoral head after kidney transplantation.		171050	8222	2	2003	An assessment of C3435T and G2677T/A polymorphisms preceding steroid treatment could be useful for predicting the resistance to ONF development.	Cohort 136 patients receiving kidney transplantation 	tacrolimus									
114622	N	manic depression	PSYCH	PSY	Bipolar Disorder	7	7q21.1	ABCB1	86970883	87180500		De Luca, V.  et al. 2003	14583799				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The pharmacogenomics journal. 2003 ;3(5):297-9	Investigation of polymorphism in the MDR1 gene and antidepressant-induced mania.		171050	8223	2	2003	No association between antidepressant-induced mania and the MDR1 alleles or genotypes was found (chi(2)=1.85, 2 df, P=0.39; chi(2)=0.13, 1 df, P=0.72).	Case:26 patients with at least one manic/hypomanic episode developed during antidepressant treatment;Control:29 patients with no antidepressant-induced switches										
114623		HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Haas, D. W.  et al. 2003	14600574				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of acquired immune deficiency syndromes (1999). 2003 Nov;34(3):295-8	MDR1 gene polymorphisms and phase 1 viral decay during HIV-1 infection: an adult AIDS ClinicalTrials Group study.		171050	8224	2	2003	There was no significant relationship between allelic variants in either exon 26 or 21 and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations. It is concluded with 95% confidence that phase 1 viral decay differences between exon 26 TT and CC groups are unlikely to exceed 18%.	Cohort 31 HIV-infected individuals initiating antiretroviral therapy 	antiretroviral									
114618		epilepsy	NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Balram, C.  et al. 2003	12848778	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese		CDC GDPinfo	5243	Hs.489033			British journal of clinical pharmacology. 2003 Jul;56(1):78-83	Frequency of C3435T single nucleotide MDR1 genetic polymorphism in an Asian population:phenotypic-genotypic correlates.		171050	8219	2	2003	 The distribution of the SNP C3435T in exon 26 in the Chinese and Malay population was found to be similar to the Caucasians whereas the Indians were different. The Asian population also differed significantly from the African and Caucasian population in the distribution of the C3435T SNP. The low frequency of the T allele in the Indian population implies lower expression of P-gp and may have important therapeutic and prognostic implications for use of P-gp dependent drugs in individuals of Indian origin.	Cohort 290 healthy Asian subjects (98 Chinese, 99 Malays and 93 Indians) 										
114619		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute	7	7q21.1	ABCB1	86970883	87180500		Efferth, T.  et al. 2003	12851703				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of oncology. 2003 Aug;23(2):509-17	Analysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDR1 in acute lymphoblastic leukemia.		171050	8220	2	2003	In conclusion, we do not have reason to assume that the C3435T SNP contributes to drug resistance of ALL and prognosis of ALL patients.	Cohort 53 acute lymphoblastic leukemia 										
114620		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Gaikovitch, E. A.  et al. 2003	12879168				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Russian		CDC GDPinfo	5243	Hs.489033			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		171050	8221	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
114615		digoxin, serum concentration	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Verstuyft, C.  et al. 2003	12698307				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			European journal of clinical pharmacology. 2003 Apr;58(12):809-12	Digoxin pharmacokinetics and MDR1 genetic polymorphisms.		171050	8216	2	2003	 Our results confirm that the MDR1 C3435T single nucleotide polymorphism (SNP) significantly affects digoxin disposition kinetics, with homozygous TT subjects presenting the highest plasma concentrations.	Cohort 32 healthy subjects whose single oral dose digoxin pharmacokinetics had been measured over 48 h 										
114616		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.1	ABCB1	86970883	87180500		Drozdzik, M.  et al. 2003	12724617				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Poland	CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2003 May;13(5):259-63	Polymorphism in the P-glycoprotein drug transporter MDR1 gene: a possible link between environmentaland genetic factors in Parkinson's disease.		171050	8217	2	2003	Thus, it appears that mutation of the MDR1 gene predisposes to damaging effects of pesticides, and possibly other toxic xenobiotics transported by P-glycoprotein, leading to Parkinson's disease.	Control:103:controls;Case:107 Parkinson's disease patients (30 early onset and 77 late onset patients; 59 exposed to pesticides and 48 non-exposed)	pesticides									
114617		kidney transplant complications	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Anglicheau, D.  et al. 2003	12819250				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of the American Society of Nephrology. 2003 Jul;14(7):1889-96	Association of the multidrug resistance-1 gene single-nucleotide polymorphisms with the tacrolimus dose requirements in renal transplant recipients.		171050	8218	2	2003	Genotype monitoring of the MDR1 gene reliably predicts the optimal dose of tacrolimus in renal transplant recipients and may predict the initial daily dose needed by individual patients to obtain	Cohort 81 renal transplant recpients 	tacrolimus									
114612		maculopathy	VISION	VIS		7	7q21.1	ABCB1	86970883	87180500		Jamroziak, K.  et al. 2002	12593536				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Polish		CDC GDPinfo	5243	Hs.489033			Polish journal of pharmacology. 2002 Sep-Oct;54(5):495-500	Distribution of allelic variants of functional C3435T polymorphism of drug transporter MDR1 gene in a sample of Polish population.		171050	8213	2	2002	The results of this study give basis for large-scale C3435T MDR1 genotype-phenotype correlation investigations in Polish population that may be useful to individualize therapy of cancer, HIV-1 infection and some other diseases.	Cohort 122 healthy individuals of Slavic origin central Poland (Lodz and surrounding areas) 										
114613		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis	7	7q21.1	ABCB1	86970883	87180500		Kafka, A.  et al. 2003	12684679	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			International journal of oncology. 2003 May;22(5):1117-21	Polymorphism C3435T of the MDR-1 gene predicts response to preoperative chemotherapy in locally advanced breast cancer.		171050	8214	2	2003	MDR-1 polymorphism C3435T in exon 26 may co-determine resistance to chemotherapy and provide useful information to individualize therapy.	Cohort 68 breast cancer patients treated by preoperative chemotherapy 1998-2001 	chemotherapy									
114614		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Siddiqui, A.  et al. 2003	12686700				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The New England journal of medicine. 2003 Apr;348(15):1442-8	Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1.		171050	8215	2	2003	 These pharmacogenomic results identify a genetic factor associated with resistance to antiepileptic drugs.	Control:200 control subjects without epilepsy;Case:315 patients with epilepsy, classified as drug-resistant in 200 and drug-responsive in 115										
114609	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Schwab, M.  et al. 2003	12512026	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Gastroenterology. 2003 Jan;124(1):26-33	Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis		171050	8210	2	2003	 The higher frequency of the 3435TT genotype in patients with ulcerative colitis corroborates the findings from the mdr1a knockout mice. The results support the notion that P-glycoprotein plays a major role in the defense against intestinal bacteria or toxins. Impairment of barrier function in 3435TT subjects could render this genotype more susceptible to the development of ulcerative colitis.	Control sec-matched healthy controls;Case:149/126 patients with ulcerative colitis (n=149) and Crohn's disease (n=126)										
114610		HIV	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Brumme, Z. L.  et al. 2003	12545080				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2003 Jan;17(2):201-8	Influence of polymorphisms within the CX3CR1 and MDR-1 genes on initial antiretroviral therapy response		171050	8211	2	2003	 Polymorphisms in MDR-1 and CX3CR1 may be associated with accelerated virological and immunological therapy failure, respectively.	Cohort 461 HIV-infected, antiretroviral-na????ve individuals British Columbia, Canada 										
114611	N	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Sinues, B.  et al. 2003	12566917	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Oncology. 2003 ;64(2):183-5	MDR-1 C3435T genetic polymorphism and tobacco-related lung cancer.		171050	8212	2	2003	no association has been observed between the T/T genotype and lung cancer, which is in contrast to our work hypotesis.	Case:134 lung cancer patients:Zaragoza, Spain;Control:134 cancer-free controls										
114607		Parkinson's disease; HIV	NEUROLOGICAL	NEUR		7	7q21.1	ABCB1	86970883	87180500		Fromm, M. F.   2002	12406646				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Advanced drug delivery reviews. 2002 Nov;54(10):1295-310	The influence of MDR1 polymorphisms on P-glycoprotein expression and function in humans.		171050	8208	2	2002	Review article		cyclosporine digoxin fexofenadine loperamide nelfinavir phenytoin talinolol									
114608	N	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Ifergan, I.  et al. 2002	12441809				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			AIDS (London, England). 2002 Nov;16(17):2340-2	Allele frequency of three functionally active polymorphisms of the MDR-1 gene in high-risk HIV-negative and HIV-positive Caucasians.		171050	8209	2	2002	In this study, no evidence was found to suggest the P-glycoprotein correlates with the risk of acquiring HIV-1 through homosexual contacts of injection drug use. However, in view of the potential effect of P-glycoprotein expression on the host immune response and viral production, further studies are needed to define the role of P-glycoprotein as a susceptibility factor for HIV disease progression.	Control:67 uninfected individuals highly exposed to the virus;Case:70 individuals infected with HIV										
114603	Y	steroid weaning	UNKNOWN	UNK		7	7q21.1	ABCB1	86970883	87180500		Zheng, H.  et al. 2002	12175731				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Human immunology. 2002 Sep;63(9):765-70	The MDR1 polymorphisms at exons 21 and 26 predict steroid weaning in pediatric heart transplant patients.		171050	8204	2	2002	We conclude that  (a) a significantly larger number of MDR1 3435 CC HTx patients remain on steroids at 1 year after transplantation, and (b) the MDR1 C3435T genotype is associated with the G2677 genotype in pediatric HTx patients.	Cohort 69 pediatric heart transplant patients 										
114604		digoxin, bioavailability	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Kurata, Y.  et al. 2002	12189368				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2002 Aug;72(2):209-19	Role of human MDR1 gene polymorphism in bioavailability and interaction of digoxin, a substrate of P-glycoprotein		171050	8205	2	2002	 The allelic variants in the human MDR1 gene are likely to be associated with altered absorption and/or disposition profiles of digoxin and P-glycoprotein-mediated drug interaction	Cohort 15 heatlhy volunteers 	digoxin									
114605		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.1	ABCB1	86970883	87180500		Furuno, T.  et al. 2002	12360103				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Italy	CDC GDPinfo	5243	Hs.489033			Pharmacogenetics. 2002 Oct;12(7):529-34	Expression polymorphism of the blood-brain barrier component P-glycoprotein (MDR1) in relation to Parkinson's disease.		171050	8206	2	2002	In conclusion, and other drug transporters represent plausible candidates as Parkinson's disease risk genes. Larger studies are required to confirm this role in the etiology of Parkinson's disease.	Control:106:controls;Case:95 Parkinson's disease patients (25 early-onset patients with onset age										
114600		phenytoin levels	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Kerb, R.  et al. 2001	11908757				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The pharmacogenomics journal. 2001 ;1(3):204-10	The predictive value of MDR1, CYP2C9, and CYP2C19 polymorphisms for phenytoin plasma levels.		171050	8201	2	2001	The regression equation that fitted the data best included the number of mutant CYP2C9 and MDR*T alleles as predictory variables and explained 15.4% of the variability of phenytoin data (r2 = 0.154, P = 0.0002). Furthermore, analysis of CYP2C9 and MDR1 genotypes in 35 phenytoin-treated patients recruited from therapeutic drug monitoring showed that combined CYP2C9 and MDR1 analysis has some predictive value not only in the controlled settings of a clinical trial, but also in the daily clinical practice.	Cohort 96 healthy Turkish volunteers 										
114601	Y	hypotension	PSYCH	PSY	Hypotension, Orthostatic|Depressive Disorder	7	7q21.1	ABCB1	86970883	87180500		Roberts, R. L.  et al. 2002	12082591				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			The pharmacogenomics journal. 2002 ;2(3):191-6	A common P-glycoprotein polymorphism is associated with nortriptyline-induced postural hypotension in patients treated for major depression.		171050	8202	2	2002	Our results suggest that homozygosity for 3435T alleles of ABCB1 is a risk factor for occurrence of nortriptyline-induced postural hypotension (OR = 1.37, P = 0.042, 95% CI 1.01-1.86).	Cohort patients with major depression enrolled in a randomized antidepressant treatment trial of nortriptyline and fluoxetine 	nortriptyline									
114602	Y	renal cancer	CANCER	CAN	Kidney Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Siegsmund, M.  et al. 2002	12089380				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Journal of the American Society of Nephrology. 2002 Jul;13(7):1847-54	Association of the P-glycoprotein transporter MDR1(C3435T) polymorphism with the susceptibility to renal epithelial tumors.		171050	8203	2	2002	The data provide evidence for PGP to influence the susceptibility to develop renal epithelial tumors by virtue of its MDR1(C3435T) polymorphism and changes in expression. Especially T and TT carriers are at risk for developing non-CCRCC, i.e., papillary and chromophobe RCC as well as oncocytic adenomas.	Control:150 healthy controls;Case:212 patients with renal epithelial tumors;Case:50 patients with three non-CCRCC types (26 papillary RCC, 11 chromophobe RCC, and 13 renal oncocytic:adenoma);Control:537 healthy control subjects										
114597		epilepsy	NEUROLOGICAL	NEUR		7	7q21.1	ABCB1	86970883	87180500		Cascorbi, I.  et al. 2001	11240981				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2001 Mar;69(3):169-74	Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects		171050	8198	2	2001	 This study provides the first analysis of MDR1 variant genotype distribution in a large sample of white subjects. It gives a basis for large-scale clinical investigations on the functional role of MDR1 allelic variants for bioavailability of a substantial number of drugs.	Cohort 461 white volunteers 										
114598		epilepsy	NEUROLOGICAL	NEUR		7	7q21.1	ABCB1	86970883	87180500		Schaeffeler, E.  et al. 2001	11502320	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	African American		CDC GDPinfo	5243	Hs.489033			Lancet. 2001 Aug;358(9279):383-4	Frequency of C3435T polymorphism of MDR1 gene in African people.		171050	8199	2	2001	We recorded a significantly higher frequency of the C/C genotype in West Africans and African Americans (142 of 172 [83%] and 25 of 41 [61%], respectively), than in white people (139 of 537 [26%]) (p<0.0001). These findings could affect use of drugs that are P-glycoprotein substrates (such as HIV-1 protease inhibitors and ciclosporin) in African populations.	random samples of west African, African American, white, and Japanese people 										
114599		pravastatin kinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Kim, R. B.  et al. 2001	11503014				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	African American		CDC GDPinfo	5243	Hs.489033			Clinical pharmacology and therapeutics. 2001 Aug;70(2):189-99	Identification of functionally variant MDR1 alleles among European Americans and African Americans.		171050	8200	2	2001	Thus allelic variation in MDR1 is more common than previously recognized and involves multiple SNPs whose allelic frequencies vary between populations, and some of these SNPs are associated with altered P-glycoprotein function.	Cohort 23 healthy African Americans Cohort 37 healthy European Americans United States 										
114594	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Gazouli M 2004	14755848	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Greece	KGB	5243	Hs.489033			Gastroenterology. 2004 Jan;126(1):367-9	The C3435T MDR1 gene polymorphism is not associated with susceptibility for ulcerative colitis in Greek population.		171050	4959	1	2004												
114595	Y	epilpsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Sclerosis	7	7q21.1	ABCB1	86970883	87180500		Neurology.2004;63(6):1087-9.	15452305	CGC/CGC genotype		coding sequence	ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasians	Austria	Fritz Zimprich	5243	Hs.489033	temporal lobe epilepsy, pharmacoresistant		Neurology. 2004 Sep;63(6):1087-9	Association of an ABCB1 gene haplotype with pharmacoresistance in temporal lobe epilepsy.		171050	4960	1	2004	They identified a common haplotype that when present in the homozygous state significantly increased the risk for pharmacoresistance.	Cohort 210 patients with TLE who were stratified according to their degree of drug resistance	anti-epileptic									
114596		normal variation	NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Balram C 2003	12848778	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	unknown		KGB	5243	Hs.489033			British journal of clinical pharmacology. 2003 Jul;56(1):78-83	Frequency of C3435T single nucleotide MDR1 genetic polymorphism in an Asian population: phenotypic-genotypic correlates.		171050	4961	1	2003	 The distribution of the SNP C3435T in exon 26 in the Chinese and Malay population was found to be similar to the Caucasians whereas the Indians were different. The Asian population also differed significantly from the African and Caucasian population in the distribution of the C3435T SNP. The low frequency of the T allele in the Indian population implies lower expression of P-gp and may have important therapeutic and prognostic implications for use of P-gp dependent drugs in individuals of Indian origin.	Cohort 290 healthy Asian subjects (98 Chinese, 99 Malays and 93 Indians)										
114591		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Jamroziak K 2004	15059065	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	caucasian	Poland	KGB	5243	Hs.489033			European journal of haematology. 2004 May;72(5):314-21	Functional C3435T polymorphism of MDR1 gene: an impact on genetic susceptibility and clinical outcome of childhood acute lymphoblastic leukemia.		171050	4956	1	2004	In conclusion, the results of the present study provide evidence that C3435T MDR1 polymorphism may involve both the susceptibility to and the clinical outcome of childhood ALL. Carriers of the TT genotype are more at risk of developing ALL than other individuals, whereas CC genotype carriers are supposed to have worse prognosis.	Case:113 children with ALL (median age 5.1 yr);Control:175 healthy individuals of Polish Caucasian origin										
114592		HIV-1	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	7	7q21.1	ABCB1	86970883	87180500		Bleiber G 2004	14767809				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			The Journal of infectious diseases. 2004 Feb;189(4):583-6	MDR1 genetic polymorphism does not modify either cell permissiveness to HIV-1 or disease progression before treatment.		171050	4957	1	2004	Differences in physiological levels of MDR1 expression did not modify HIV-1 infection in vitro, nor did MDR1 alleles and haplotypes significantly influence either permissiveness to infection in vitro or disease progression in vivo before the initiation of treatment.	Cohort 411 HIV-1 infeced individuals										
114593		breast cancer	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Chen GK 2004	15044620				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			Molecular pharmacology. 2004 Apr;65(4):906-16	CCAAT/enhancer-binding protein beta (nuclear factor for interleukin 6) transactivates the human MDR1 gene by interaction with an inverted CCAAT box in human cancer cells.		171050	4958	1	2004												
114588		loperamide disposition and central nervous system effects.	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Pauli-Magnus C 2003	14586389	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			Clinical pharmacology and therapeutics. 2003 Nov;74(5):487-98	No effect of MDR1 C3435T variant on loperamide disposition and central nervous system effects.		171050	4953	1	2003	 There was no association between the MDR1 C3435T variation and plasma levels or central nervous system effects of the P-glycoprotein substrate loperamide in a white study population. The MDR1 haplotype structure was quite variable and supports the use of haplotypes instead of single nucleotide polymorphisms in determining clinical consequences of genetic variation.	Cohort 16 healthy white volunteers	loperamide									
114589		kidney transplant	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Kuzuya T 2003	14501869				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese		KGB	5243	Hs.489033			Transplantation. 2003 Sep;76(5):865-8	Amlodipine, but not MDR1 polymorphisms, alters the pharmacokinetics of cyclosporine A in Japanese kidney transplant recipients.		171050	4954	1	2003	 There is no relationship between polymorphisms for MDR1 and CsA absorption, suggesting polymorphisms for MDR1 cannot account for the interpatient variability of CsA. Amlodipine, which is the substrate of PGP, significantly increased CsA absorption. These results indicate that PGP plays a significant role in CsA absorption, but its polymorphisms could not influence the CsA absorption.											
114585	Y	altered efflux of the P-glycoprotein substrate rhodamine	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Hitzl M et al. 2001	11434506	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			Pharmacogenetics. 2001 Jun;11(4):293-8	The C3435T mutation in the human MDR1 gene is associated with altered efflux of the P-glycoprotein substrate rhodamine 123 from CD56+ natural killer cells.		171050	4950	1	2001												
114586	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Schwab M et al. 2003	12512026	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			Gastroenterology. 2003 Jan;124(1):26-33	Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis.		171050	4951	1	2003	 The higher frequency of the 3435TT genotype in patients with ulcerative colitis corroborates the findings from the mdr1a knockout mice. The results support the notion that P-glycoprotein plays a major role in the defense against intestinal bacteria or toxins. Impairment of barrier function in 3435TT subjects could render this genotype more susceptible to the development of ulcerative colitis.	Control sec-matched healthy controls;Case:149/126 patients with ulcerative colitis (n=149) and Crohn's disease (n=126)										
114587		HIV-1	INFECTION	INF	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Haas DW 2003	14600574				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			Journal of acquired immune deficiency syndromes (1999). 2003 Nov;34(3):295-8	MDR1 gene polymorphisms and phase 1 viral decay during HIV-1 infection: an adult AIDS Clinical Trials Group study.		171050	4952	1	2003	There was no significant relationship between allelic variants in either exon 26 or 21 and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations. It is concluded with 95% confidence that phase 1 viral decay differences between exon 26 TT and CC groups are unlikely to exceed 18%.	Cohort 31 HIV-infected individuals initiating antiretroviral therapy	antiretroviral									
114582	Y	lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome|Multiple Sclerosis|Lupus Erythematosus, Systemic	19	19p13.3	ABCA7	992244	1016570		Harangi, M.  et al. 2004	15593299				ATP-binding cassette, sub-family A (ABC1), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019112.2		Europe	CDC GDPinfo	10347	Hs.134514			European journal of immunology. 2005 Jan;35(1):305-17	Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome.		605414	14878	2	2004	Our results suggest that the HA-1 168His variant is associated with reduced susceptibility to primary Sjogren's syndrome.	Case patients with primary Sjogren's syndrome, systemic lupus erythematosus;Control ethnically matched controls										
114583	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Siddiqui A et al. 2003	12686700				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			The New England journal of medicine. 2003 Apr;348(15):1442-8	Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1.		171050	4948	1	2003	 These pharmacogenomic results identify a genetic factor associated with resistance to antiepileptic drugs.	Control:200 control subjects without epilepsy;Case:315 patients with epilepsy, classified as drug-resistant in 200 and drug-responsive in 115										
114584	Y	major depression	PSYCH	PSY	Hypotension, Orthostatic|Depressive Disorder	7	7q21.1	ABCB1	86970883	87180500		Roberts RL et al. 2002	12082591				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033			The pharmacogenomics journal. 2002 ;2(3):191-6	A common P-glycoprotein polymorphism is associated with nortriptyline-induced postural hypotension in patients treated for major depression.		171050	4949	1	2002	Our results suggest that homozygosity for 3435T alleles of ABCB1 is a risk factor for occurrence of nortriptyline-induced postural hypotension (OR = 1.37, P = 0.042, 95% CI 1.01-1.86).	Cohort patients with major depression enrolled in a randomized antidepressant treatment trial of nortriptyline and fluoxetine	nortriptyline									
114579		maculopathy	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Schmidt, S.  et al. 2003	12824224				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			Investigative ophthalmology & visual science. 2003 Jul;44(7):2868-75	Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.		601691	14875	2	2003	This study confirmed the very high degree of ABCA4 sequence polymorphism in the general population, which makes the detection of potential disease-associated alleles particularly challenging. While this study does not definitively exclude ABCA4 from contributing to a small or moderate fraction of ARM, it adds to the body of evidence suggesting that ABCA4 is not a major susceptibility gene for this disorder.	Case patients with age-related maculopathy;Control:controls										
114580		Stargardt disease	VISION	VIS	Retinal Diseases	1	1p22.1-p21	ABCA4	94230981	94359293		Derwent, J. J.  et al. 2004	15223829				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			Investigative ophthalmology & visual science. 2004 Jul;45(7):2447-56	Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.		601691	14876	2	2004	 The results indicate that, despite a reduction in the average dark-adapted maximum a-wave amplitude in the Stargardt/ABCA4 patients, the early-stage recovery kinetics of the derived rod response to a low-bleaching conditioning flash as well as the lingering rod desensitization produced by such a flash are similar to those determined in normal subjects.	Cohort patients with Stargardt disease 										
114581		cone-rod dystrophy; retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	1	1p22.1-p21	ABCA4	94230981	94359293		Klevering, B. J.  et al. 2004	15494742				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			European journal of human genetics. 2004 Dec;12(12):1024-32	Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.		601691	14877	2	2004	In conclusion, in this study, we show that the ABCA4 mutation chip is an efficient first screening tool for arCRD	Cohort 18/5 patients with cone-rod dystrophy (n=18) and retinitis pigmentosa (n=5) 										
114576		cone-rod dystrophy; retinitis pigmentosa	VISION	VIS		1	1p22.1-p21	ABCA4	94230981	94359293		Maugeri, A.  et al. 2002	11973624	2588G>C			ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			European journal of human genetics. 2002 Mar;10(3):197-203	The ABCA4 2588G>C Stargardt mutation: single originand increasing frequency from South-West to North-East Europe.		601691	14872	2	2002	These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago.	Cohort 2343/241/614 2343 unrelated random control individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US 										
114578		cone-rod dystrophy	VISION	VIS	Retinal Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Fishman, G. A.  et al. 2003	12796258				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			Archives of ophthalmology. 2003 Jun;121(6):851-5	ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.		601691	14874	2	2003	 Our findings confirm that a substantial percentage of patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease. The fundus phenotype observed in such patients is quite variable, and certain fundus phenotypes may be more associated with certain genotypes.Clinical Relevance Identification of the molecular genetic basis for various inherited human retinal dystrophies, such as cone-rod dystrophy, facilitates a potentially better understanding of the mechanisms by which photoreceptor cells degenerate. This in turn provides guidance as to how to better proceed in identifying the most optimal future therapeutic strategies.	Cohort 30 unrelated cone-rod dystrophy patients 										
114574		macular degeneration; Stargardt disease	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Webster, A. R.  et al. 2001	11328725				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			Investigative ophthalmology & visual science. 2001 May;42(6):1179-89	An analysis of allelic variation in the ABCA4 gene.		601691	14870	2	2001	Of the 97 amino acid substitutions, 11 occurred at a frequency that made them unlikely to be high-penetrance recessive disease-causing variants (HPRDCV). After accounting for variants in cis, one or more changes that were compatible with HPRDCV were found on 35% of all Stargardt-associated alleles overall. The nucleotide diversity of the ABCA4 coding region, a collective measure of the number and prevalence of polymorphic sites in a region of DNA, was found to be 1.28, a value that is 9 to 400 times greater than that of two other macular disease genes that were examined in a similar fashion (VMD2 and EFEMP1).	Case:182 patients with age-related macular degeneration;Case:374 Stargardt disease probands;Control:96 normal subjects										
114575	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Guymer, R. H.  et al. 2001	11346402				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			CDC GDPinfo	24	Hs.416707			Archives of ophthalmology. 2001 May;119(5):745-51	Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.		601691	14871	2	2001	 Somali ancestry is more than 100 times more strongly associated with presence of the G1961E allele than the AMD phenotype. This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD. CLINICAL RELEVANCE: The ABCA4 gene is definitively involved in the pathogenesis of Stargardt disease and some cases of photoreceptor degeneration. However, it does not seem to be involved in a statistically significant fraction of AMD cases.	Case:544 patients with age-related macular degeneration;Control:62 normal individuals Somalian ancestry;Control:689 subjects with no history of AMD from the U.S. (n=408), Austrailia (n=187), and Switzerland (94)										
114571		age-related maculopathy.	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Schmidt S 2003	12824224				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			KGB	24	Hs.416707			Investigative ophthalmology & visual science. 2003 Jul;44(7):2868-75	Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.		601691	91	1	2003	This study confirmed the very high degree of ABCA4 sequence polymorphism in the general population, which makes the detection of potential disease-associated alleles particularly challenging. While this study does not definitively exclude ABCA4 from contributing to a small or moderate fraction of ARM, it adds to the body of evidence suggesting that ABCA4 is not a major susceptibility gene for this disorder.	Case patients with age-related maculopathy;Control:controls										
114572		cone-rod dystrophy	VISION	VIS	Retinal Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Simonelli F 2004	15017103				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2	Italian	Italy	KGB	24	Hs.416707			Ophthalmic research. 2004 Mar-Apr;36(2):82-8	Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.		601691	92	1	2004												
114573	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293	n	Guymer RH et al. 2001	11346402				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2			KGB	24	Hs.416707			Archives of ophthalmology. 2001 May;119(5):745-51	Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.		601691	8144	1	2001	 Somali ancestry is more than 100 times more strongly associated with presence of the G1961E allele than the AMD phenotype. This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD. CLINICAL RELEVANCE: The ABCA4 gene is definitively involved in the pathogenesis of Stargardt disease and some cases of photoreceptor degeneration. However, it does not seem to be involved in a statistically significant fraction of AMD cases.	Case:544 patients with age-related macular degeneration;Control:62 normal individuals Somalian ancestry;Control:689 subjects with no history of AMD from the U.S. (n=408), Austrailia (n=187), and Switzerland (94)										
114567	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q34-q35	ABCA12	215504510	215711396		Ohkubo, T.  et al. 2005	15980630				ATP-binding cassette, sub-family A (ABC1), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173076.2	Japanese	Japan	CDC GDPinfo	26154	Hs.134585			Dementia and geriatric cognitive disorders. 2005 ;20(3-Feb):95-8	No genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's disease.		607800	14935	2	2005												
114569	Y	lung disease	OTHER	OTH	Lung Diseases, Interstitial|Chronic Disease	16	16p13.3	ABCA3	2265879	2330748		Bullard, J. E.  et al. 2005	15976379				ATP-binding cassette, sub-family A (ABC1), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001089.1			CDC GDPinfo	21	Hs.26630			American journal of respiratory and critical care medicine. 2005 Oct;172(8):1026-31	ABCA3 Mutations Associated with Pediatric Interstitial Lung Disease.		601615	14869	2	2005	 ABCA3 mutations cause some types of interstitial lung disease in pediatric patients.											
114570	Y	Late-onset Stargardt disease	OTHER	OTH	Retinal Diseases	1	1p22.1-p21	ABCA4	94230981	94359293		Yatsenko AN et al. 2001	11379881				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2	late-onset STGDI patients (onset: > or =35 years)		KGB	24	Hs.416707			Human genetics. 2001 Apr;108(4):346-55	Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).		601691	90	1	2001												
114564		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	9	9q31.1	ABCA1	106583104	106730257		van Aalst-Cohen, E. S.  et al. 2005	16030523				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		600046	18043	2	2005			alcohol beta blockers body mass smoking (tobacco)									
114566	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Zareparsi, S.  et al. 2005	15829498				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Human molecular genetics. 2005 Jun;14(11):1449-55	Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.		600046	19877	2	2005	The APOE4 is a risk factor and demonstrated a dose-dependent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.	Control:439 unrelated controls, all of Caucasian ancestry;Case:667 unrelated age-related macular degeneration patients		TLR4	D299G	APOE		ABCA1		Y		age-related macular degeneration
114561	Y	cholesterol, HDL	METABOLIC	MET	Myocardial Infarction|Hypertension	9	9q31.1	ABCA1	106583104	106730257		Shioji, K.  et al. 2004	14986172			promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese	Japan	CDC GDPinfo	19	Hs.429294			Journal of human genetics. 2004 ;49(3):141-7	A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population		600046	15302	2	2004	These results iYdicate that ABCA1 G(-273)C has a sigYificaYt effect oY the HDL-C level iY the geYeral JapaYese populatioY, but Yot oY the iYcideYce of MI.	Cohort 1,880 subjects recruited from the Suita Study, representing the general population in Japan Japan Cohort 598 subjects with myocardial infarction Cohort 743 subjects 										
114562		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Shibata, N.  et al. 2005	16157450				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2		Caribbean Region|Ontario|Florida	CDC GDPinfo	19	Hs.429294			Neuroscience letters. 2006 Jan;391(3):142-6	Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.		600046	16286	2	2005												
114563		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	9	9q31.1	ABCA1	106583104	106730257		Navarro-Lopez, F.   2002	11975906				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		600046	17833	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
114558		cholesterol; cholesterol, HDL; triglycerides	METABOLIC	MET	Cerebrovascular Disorders|Hyperlipidemias	9	9q31.1	ABCA1	106583104	106730257		Zhao, S. P.  et al. 2004	15500734				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Zhonghua yi xue za zhi. 2004 Sep;84(17):1421-5	[Relationship between ATP-binding cassette transporter 1 R219K genetic variation and blood lipids.]		600046	14866	2	2004	 ABCA1R219K genetic variation results in a beneficial profile of blood lipids, more evident in males. RK + KK genotype is more pronounced in the individuals aged </= 70.	Control:352 sex- and age-matched persons without cardio-cerebro-vascular disease;Case:692 patients with cerebral apoplexy, aged 62 +/- aged:12										
114560	Y	cholesterol, HDL; atherosclerosis, coronary	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Sun, P.  et al. 2005	16080812				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):627-30	[Study on the association of ABCA1 gene common variants with the risk of coronary atherosclerotic heart disease]		600046	14868	2	2005	 The ABCA1 R219K polymorphism may be involved in the variability of serum HDL-C and the susceptibility to coronary artery disease.											
114555	Y	cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Disease|Hyperlipidemias|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Harada, T.  et al. 2003	12860256				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese	Japan	CDC GDPinfo	19	Hs.429294			Atherosclerosis. 2003 Jul;169(1):105-12	A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population.		600046	14863	2	2003	In this study, we provide evidence that I/M 823 variant, not R/K 219 variant, in ABCA1 is one of the determinants of HDL-C level, suggesting the importance of this gene on lipid metabolism in Japanese.	Cohort 410 patients recruited in a hospital Japan 										
114556		cholesterol, HDL	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Yamakawa-Kobayashi, K.  et al. 2004	14767869				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese		CDC GDPinfo	19	Hs.429294			Metabolism:  clinical and experimental. 2004 Feb;53(2):182-6	Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children.		600046	14864	2	2004	The present data support the proposition that the K219 allele is an anti-atherogenic allele with increased cholesterol efflux activity. Similarly, the M771 allele appears to be anti-atherogenic, although the frequency of the M771 allele is low.	Cohort healthy school-aged children 										
114552	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Kakko, S.  et al. 2003	12535741				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Finnish	Finland	CDC GDPinfo	19	Hs.429294			Atherosclerosis. 2003 Feb;166(2):285-90	ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease.		600046	14860	2	2003	The data suggest that the ABCA1 locus is of minor importance in the regulation of HDL-C in Finns.	Cohort 515 subjects of a population sample 										
114553		cholesterol, HDL	METABOLIC	MET	Cardiovascular Diseases|Coronary Artery Disease|Myocardial Infarction	9	9q31.1	ABCA1	106583104	106730257		Woll, P. S.  et al. 2003	12600975				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Clinical chemistry. 2003 Mar;49(3):521-2	Absence of ABCA1 mutations in individuals with low serum HDL-cholesterol.		600046	14861	2	2003	Our results may be interpreted to mean that mutations in ABCA1 gene, which have been found in patietns with TD and FHA, are not present to a high degree in the general population with low HDL-C.	Cohort 257 individuals with serum HDL-C <=300 mg/L and serum triglycerides <=2500mg/L Minnesota, US 										
114550	Y	cholesterol, HDL; arterial-wall changes; cholesterol efflux	METABOLIC	MET	Arteriosclerosis	9	9q31.1	ABCA1	106583104	106730257		van Dam, M. J.  et al. 2002	11809185				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Lancet. 2002 Jan;359(9300):37-42	Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study.		600046	14858	2	2002	These results show a direct relation between ABCA1-mediated cellular cholesterol efflux and arterial-wall thickness, and therefore suggest that increasing efflux could inhibit atherosclerosis progression before the manifestation of symptomatic cardiovascular disease.	Control:110 controls matched for age, sex, and ethnic origin;Case:30 individuals from families with ABCA1 mutations										
114551	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	9	9q31.1	ABCA1	106583104	106730257		Zwarts, K.  et al. 2002	11940086				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Clinical genetics. 2002 Feb;61(2):115-25	ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels		600046	14859	2	2002	These data suggest that common variation in non-coding regions of ABCA1 may significantly alter the severity of atherosclerosis, without necessarily influencing plasma lipid levels.	Cohort 804 Dutch men with proven coronary artery disease who participated in the Regression Growth Evaluation statin Study 										
114547	Y	heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia	CARDIOVASCULAR	CARD		9	9q31.1	ABCA1	106583104	106730257		Cui, H.  et al. 2005	15696473				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Chinese		CDC GDPinfo	19	Hs.429294			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):22-6	[Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population]		600046	12219	2	2005	 The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.	Cohort 209 normal Han ethnic subjects, aged 59+/-10 years,recruited from 5 medical centers western China 										
114548		cholesterol, HDL; triglycerides	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Xiao, Z.  et al. 2005	15952113				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):272-6	Effect of the interaction between paranoxonase 1 and ATP-binding cassette transporter 1 gene polymorphism on serum lipid level.		600046	13244	2	2005	 The result exhibited an interaction of PON1 A/B192 and ABCA1 R219K on serum lipid level.			PON1	A/B192	ABCA1	R219K			Y		"cholesterol, HDL triglycerides"
114543		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9q31.1	ABCA1	106583104	106730257			16313984				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			International journal of cardiology. 2005	ABCA1 polymorphisms and prognosis after myocardial infarction in young patients		600046	8197	2	2005												
114544		cholesterol, HDL	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Cohen, J. C.  et al. 2004	15297675				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Science. 2004 Aug;305(5685):869-72	Multiple rare alleles contribute to low plasma levels of HDL cholesterol		600046	12123	2	2004	Thus, rare alleles with major phenotypic effects contribute significantly to low plasma HDL-C levels in the general population.	Cohort individuals from a population based study 										
114545		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Bertolini, S.  et al. 2004	15135251				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		600046	12186	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
114540	Y	cholesterol, HDL	METABOLIC	MET	Hypercholesterolemia	9	9q31.1	ABCA1	106583104	106730257		Hodoglugil, U.  et al. 2005	15935359			promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Turkish	Turkey	CDC GDPinfo	19	Hs.429294			Atherosclerosis. 2005 Dec;183(2):199-212	Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks.		600046	8194	2	2005	The rare alleles of the V771M and the I883M polymorphisms do not exist together on any of the common haplotypes. In conclusion, we describe a functional promoter polymorphism (C-14T) and a coding sequence variant (V771M) of ABCA1 and their interactions with two other variants (R219K and I883M) on plasma HDL-C levels in Turks.	Cohort 2,300+ Turkish subjects 										
114541		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	9	9q31.1	ABCA1	106583104	106730257		Liu, L.  et al. 2005	15958302			promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Di yi jun yi da xue xue bao. 2005 Jun;25(6):660-2, 666	[Significance of -191G/C single nucleotide polymorphisms in the promoter region of ATP-binding cassette transporter gene in coronary artery disease]		600046	8195	2	2005	 The -191G/C SNP in the promoter region of ABCA1 is associated with increased CAD and the C allele may relate to the stability of CAD without detectable changes in plasma lipids.											
114542		heart disease, ischemic	CARDIOVASCULAR	CARD		9	9q31.1	ABCA1	106583104	106730257		Li, Y.  et al. 2005	16120575				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Yi chuan. 2005 Jul;27(4):549-22	[Relationship between the R219K polymorphism of ATP-binding cassette transporter 1 gene and coronary heart disease]		600046	8196	2	2005												
114537		body mass; cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Liu, S. L.  et al. 2004	15201080			promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Chinese		CDC GDPinfo	19	Hs.429294			Di yi jun yi da xue xue bao. 2004 Jun;24(6):650-2	[Distribution of -477C/T single nucleotide polymorphism in the promoter region of ABCA1 gene and its significance for plasma lipids levels in normal Chinese Han population]		600046	8191	2	2004	 The TT genotype significantly influences the plasma levels of HDL-C in normal Chinese Han individuals.	Cohort 113 normal Chinese Han subjects 										
114538		myocardial infarct	CARDIOVASCULAR	CARD		9	9q31.1	ABCA1	106583104	106730257		Sheidina, A. M.  et al. 2004	15340333			promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Kardiologiia. 2004 ;44(8):40-5	[Allele Frequency Analysis of Four Single Nucleotide Polymorphisms Locating in Promoter and 5'-Untranslated Regions of ABCAI Gene in Young Men - Survivors From Myocardial Infarction]		600046	8192	2	2004	Role of polymorphisms under study appears to be insignificant in formation of genetic susceptibility to myocardial infarction in young men.	Control:controls;Case:171 men who had survived myocardial infarction before 45 years										
114535		cholesterol	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Yamakawa-Kobayashi K 2004	14767869				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese		KGB	19	Hs.429294			Metabolism:  clinical and experimental. 2004 Feb;53(2):182-6	Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children.		600046	88	1	2004	The present data support the proposition that the K219 allele is an anti-atherogenic allele with increased cholesterol efflux activity. Similarly, the M771 allele appears to be anti-atherogenic, although the frequency of the M771 allele is low.	Cohort healthy school-aged children										
114536		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	9	9q31.1	ABCA1	106583104	106730257		Tan, J. H.  et al. 2003	12709788				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2		Malaysia|Singapore|India	CDC GDPinfo	19	Hs.429294			Human genetics. 2003 Jul;113(2):106-17	ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.		600046	8190	2	2003	While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1.	Case Singapore Chinese, Malay and Indian male coronary artery disease cases;Control Singapore Chinese, Malay and Indian controls										
114531	Y	high density lipoprotein cholesterol level	CARDIOVASCULAR	CARD	Coronary Disease|Hyperlipidemias|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Harada T 2003	12860256				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese	Japan	KGB	19	Hs.429294			Atherosclerosis. 2003 Jul;169(1):105-12	A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population.		600046	84	1	2003	In this study, we provide evidence that I/M 823 variant, not R/K 219 variant, in ABCA1 is one of the determinants of HDL-C level, suggesting the importance of this gene on lipid metabolism in Japanese.	Cohort 410 patients recruited in a hospital Japan										
114532		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	9	9q31.1	ABCA1	106583104	106730257		Tan JH 2003	12709788				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	unknown	Malaysia|Singapore|India	KGB	19	Hs.429294			Human genetics. 2003 Jul;113(2):106-17	ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.		600046	85	1	2003	While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1.	Case Singapore Chinese, Malay and Indian male coronary artery disease cases;Control Singapore Chinese, Malay and Indian controls										
114528	N	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	16	16p13.2	ABAT	8675927	8785933		Zhang, B.  et al. 2005	15642443				4-aminobutyrate aminotransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020686.4			CDC GDPinfo	18	Hs.336768			European psychiatry. 2005 Jan;20(1):45-9	An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia.		137150	20225	2	2005	Therefore, we conclude the polymorphisms studied in the five genes do not play major roles in pathogenesis of paranoid schizophrenia in the population investigated.	Control:108 matched controls;Case:80 paranoid schizophrenics northern China										
114529	Y	familial hypercholesterolaemia	METABOLIC	MET	Coronary Disease|Hyperlipoproteinemia Type II	9	9q31.1	ABCA1	106583104	106730257		Cenarro A et al. 2003	12624133				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			KGB	19	Hs.429294	lower risk for premature coronary heart disease		Journal of medical genetics. 2003 Mar;40(3):163-8	A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.		600046	82	1	2003	The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects. Moreover, the K allele of the R219K polymorphism seems to modify CHD risk without important modification of plasma HDL-C levels, and it appears to be more protective for smokers than non-smokers.	Cohort 374 familial hypercholesterolemia subjects, with and without premature coronary heart disease										
114525	Y	delayed sleep phase syndrome	NEUROLOGICAL	NEUR	Sleep Disorders|Genetic Predisposition to Disease	17	17q25	AANAT	71975245	71977794		Hohjoh, H.  et al. 2003	12736803				Arylalkylamine N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001088.1			CDC GDPinfo	15	Hs.431417			Neurogenetics. 2003 Apr;4(3):151-3	Significant association of the arylalkylamine N-acetyltransferase ( AA-NAT) gene with delayed sleep phase syndrome.		600950	14854	2	2003	The data suggest that AA-NAT could be a susceptibility gene for DSPS.	Control:controls;Case:129 patients with delayed sleep phase syndrome										
114526	N	melatonin production	NORMALVARIATION	NV		17	17q25	AANAT	71975245	71977794		Ying, G. W.  et al. 2004	14728993	-263G/C			Arylalkylamine N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001088.1			CDC GDPinfo	15	Hs.431417			Molecular genetics and metabolism. 2004 Jan;81(1):65-9	A naturally occurring -263G/C variant of the human AA-NAT gene and overnight melatonin production		600950	14855	2	2004	However, we found that -263G/C variant had no effect on the overnight 6-OHMS excretion.											
114527		sleep disorders	OTHER	OTH		17	17q25	AANAT	71975245	71977794		Wang, G. Y.  et al. 2004	15332344	-263G/C			Arylalkylamine N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001088.1			CDC GDPinfo	15	Hs.431417			Chronobiology international. 2004 Mar;21(2):229-37	Genetic variability of arylalkylamine-N-acetyl-transferase (AA-NAT) gene and human sleep/wake pattern		600950	14856	2	2004	The -263G/C SNP may therefore be an important determinant of the late/short sleep pattern.	Cohort 210 students 										
114520	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Hu, C.  et al. 2001	11099722				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese		CDC GDPinfo	2	Hs.212838			Journal of the neurological sciences. 2000 Dec;181	Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan		103950	19367	2	2000	Among these nine candidate genes of AD, the ApoE-4 allele is the only independent genetic risk factor for AD. The other candidate genes in this study were not associated with the occurrence of AD. In addition, there are no gene-gene interactions.	Control:110 non-affected elder individuals among:Taiwan;Case:82 AD patients:Taiwan										
114521		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Clarimon, J.  et al. 2003	12782964				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Spanish	Spain	CDC GDPinfo	2	Hs.212838			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		103950	19374	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
114522		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Barton, A.  et al. 2002	11981324				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		103950	19719	2	2002	Review article											
114517		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12p13.3-p12.3	A2M	9111570	9159825		Gonzalez, P.  et al. 2002	12394648				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Coronary artery disease. 2002 Aug;13(5):251-4	Variation in the lipoprotein receptor-related protein,alpha2-macroglobulin and lipoprotein receptor-associatedprotein genes in relation to plasma lipid levels and riskof early myocardial infarction		103950	18075	2	2002	 According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI.	Control:200 healthy controls;Case:210 patients with early myocardial infarction (<55:years)										
114518		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Cacabelos, R.   2002	12452480				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		103950	18077	2	2002	Review article											
114519		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Bian, L.  et al. 2005	16040006				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese	China	CDC GDPinfo	2	Hs.212838			Biological psychiatry. 2005 Nov;58(9):731-7	Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese.		103950	18080	2	2005	 Our results indicate that the CTCG haplotype of LRP1 may reduce the risk of late-onset AD, but A2M is not associated with this disease in the Han Chinese population.											
114513		alpha2-macroglobulin	OTHER	OTH		12	12p13.3-p12.3	A2M	9111570	9159825		Birkenmeier, G.  et al. 2003	14637088				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Experimental neurology. 2003 Nov;184(1):153-61	Human alpha2-macroglobulin: genotype-phenotyperelation.		103950	14853	2	2003	The absence of abnormalities in alpha2-M mRNA and protein suggests that the alpha2-M deletion polymorphism is probably not associated with functional deficiencies important in AD pathology. However, it can be speculated that the observed general age-related alpha2-M deficiency may lead to accelerated accumulation of amyloid-beta, which might be relevant to AD pathology.	Cohort 227 healhty Caucasian 										
114514	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Cai, L.  et al. 2005	15931081				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese	China	CDC GDPinfo	2	Hs.212838			Neuroreport. 2005 Jun;16(9):1023-6	Genetic studies of A2M and BACE1 genes in Chinese Han Alzheimer's disease patients.		103950	15392	2	2005	Through combination-analysis of the data about the A2M-I/D and the A2M-Ile1000Val variants, the A2M gene was suggested to be associated with Alzheimer's disease.	healthy subjects ;Case:387 Chinese han ethnic patients with Alzheimer's disase										
114515	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Styczynska, M.  et al. 2003	12782337				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Polish	Poland	CDC GDPinfo	2	Hs.212838			Neuroscience letters. 2003 Jun;344(2):99-102	Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.		103950	15949	2	2003	Our results suggest that the APOE epsilon 4 allele is the only known genetic risk factor for late-onset, sporadic AD.	Case:100 cases of late-onset Alzheimer's disease;Control:100 healthy controls										
114510	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Zhang, P.  et al. 2004	15468911	TNFalpha-308 A/G			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese		CDC GDPinfo	2	Hs.212838			Yi chuan xue bao. 2004 Jan;31(1):6-Jan	Neither the tumor necrosis factor alpha-308 A/G polymorphism nor the alpha2-macroglobulin polymorphism was associated with late-onset Alzheimer's disease in the Chinese population.		103950	14353	2	2004	Our data showed that the APOE epsilon4 allele frequency in AD was significantly higher than that in the normal controls (chi2 = 11.66, P < 0.01) neither the frequencies of genotypes nor alleles of the TNF alpha-308 A/G and A2M polymorphisms were significantly different between AD and controls,suggesting the two polymorphisms were not risk factors to LOAD in Chinese.	Control:142 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients										
114511	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Bagli, M.  et al. 2000	11121179				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	CDC GDPinfo	2	Hs.212838			American journal of medical genetics. 2000 Dec;96(6):775-7	Identical distribution of the alpha 2-macroglobulin pentanucleotide deletion in subjects with Alzheimer disease and controls in a German population.		103950	14851	2	2000	Our findings do not support the fact that the previously reported positive association between A2M deletion polymorphism and AD modifies the disease risk in the studied population.	Case:160 depressed patients;Control:191 healthy subjects										
114512	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Nicoletti, G.  et al. 2002	12123860				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Neuroscience letters. 2002 Aug;328(1):65-7	No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control sample.		103950	14852	2	2002	The present data suggest that these polymorphisms do not represent a risk factor for PD and do not modulate the age at onset of PD.	Case:159 Parkinson's disease patients;Control:190 normal controls										
114507	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		McIlroy, S. P.  et al. 2001	11496365				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Northern Ireland	CDC GDPinfo	2	Hs.212838			American journal of medical genetics. 2001 Aug;105(6):502-6	Common polymorphisms in LRP and A2M do not affect genetic risk for Alzheimer disease in Northern Ireland.		103950	13432	2	2001	The results from this study indicate that polymorphisms in LRP and A2M are not associated with increased risk for AD in Northern Ireland.	Case large group of clinically well-defined AD cases from the relatively genetically homogeneous Northern Ireland population Northern Ireland;Control controls from the relatively genetically homogeneous Northern Ireland population Northern Ireland										
114508	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Schweer, D.  et al. 2001	11498265				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	CDC GDPinfo	2	Hs.212838			Journal of neuroimmunology. 2001 Aug;118(2):300-3	No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis.		103950	13433	2	2001	The results do not suggest a contribution of A2M and LRP to the development of MS.	Control:290 healty donors without personal or family history of MS, comparable to cases with respect to ethnicity,:age, gender;Case:326 MS patients										
114509	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Ki, C.  et al. 2001	11290389				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Korean	Korea	CDC GDPinfo	2	Hs.212838			Neuroscience letters. 2001 Apr;302(3-Feb):69-72	Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease		103950	13601	2	2001	Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.	Control:50 age-matched healthy controls:Korea;Case:89 Korean late-onset Alzheimer's disease patients:Korea										
114504	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		12	12p13.3-p12.3	A2M	9111570	9159825		Shi, J.  et al. 2001	11484172				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese		CDC GDPinfo	2	Hs.212838			Zhonghua yi xue yi chuan xue za zhi. 2001 Aug;18(4):299-302	No evidence for association between the alpha 2-macroglobulin polymorphism and Alzheimer's disese in the Han Chinese		103950	8769	2	2001	 The above data demonstrate that there is no evidence for the association of A2M polymorphism with the development of LOAD in the Han Chinese population in Gaungzhou.	Control:111 age-matched healthy elderly Chinese men(57) and:women (54);Case:97 Chinese men (32) and women (65) with late-onset Alzheimer's disease:Guangzhou, China										
114505	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Chen, D.  et al. 2004	14675603				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese	China	CDC GDPinfo	2	Hs.212838			Journal of the neurological sciences. 2004 Jan;217(1):13-5	Association of alpha 2-macroglobulin polymorphisms and Alzheimer disease in Mainland Han Chinese.		103950	8786	2	2004	These results indicated that A2M-D allele was probably a weak AD protective factor, and there was a possible interaction of APOE-epsilon4 and A2M-G alleles to increase AD risk in Mainland Han Chinese.	Case Alzheimer's disease patients;Control:controls		APOE	epsilon4	A2M	G			Y		Increased risk for Alzheimers Disease in Mainland Han Chinese
114506	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Zappia, M.  et al. 2004	15023809				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Italian	Italy	CDC GDPinfo	2	Hs.212838			Archives of neurology. 2004 Mar;61(3):341-4	Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.		103950	8789	2	2004	 The MPO and A2M polymorphisms are associated with sporadic AD in southern Italy. Moreover, a genomic interaction between these polymorphisms increases the risk of the development of AD.	Case:148 patients with sporadic Alzheimer's disease Calabria, southern Italy;Control:158 healthy controls										
114500	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.3-p12.3	A2M	9111570	9159825		Zapico, I.  et al. 2000	11036822				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			The Journal of rheumatology. 2000 Oct;27(10):2308-11	A DNA polymorphism at the alpha2-macroglobulin gene is associated with the severity of rheumatoid arthritis.		103950	8298	2	2000	 The genetic variation at alpha2m is associated with the severity of RA. Carriers of the alpha2m deletion allele would have increased risk of developing an early active severe form of the disease. Our data suggest that alpha2m could be a valuable target in the treatment of RA.	Case:160 patients (71 with early active severe RA, 89 with non-severe RA);Control:500 healthy controls from the same Caucasian population:Asturian/Spanish										
114502	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Jhoo, J. H.  et al. 2001	11231028				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Korean	Korea	CDC GDPinfo	2	Hs.212838			Journal of the neurological sciences. 2001 Feb;184(1):21-5	Association of alpha-2-macroglobulin deletion polymorphism with sporadic Alzheimer's disease in Koreans		103950	8762	2	2001	our data suggests that the A2M D allele is a modest risk factor for late-onset sporadic AD in Koreans, and the AD risk conferred by the A2M D allele increases in APOE epsilon4 negative subjects.	Case:100 sporadic AD patients;Control:203 unspecified controls										
114503	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Wang, X.  et al. 2001	11281447				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Human genetics. 2001 Feb;108(2):105-8	Lack of association between alpha2-macroglobulin polymorphisms and Alzheimer's disease.		103950	8763	2	2001	In conclusion, we observed no association between either the intronic deletion polymorphism or the Ile1000Val polymorphism of A2M and AD in our case-control cohort.	Control:446:controls;Case:555 white late-onset AD cases										
114497	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Scacchi, R.  et al. 2002	12059070				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Clinical chemistry and laboratory medicine. 2002 Apr;40(4):333-6	Alpha2-macroglobulin deletion polymorphism and plasma levels in late onset Alzheimer's disease.		103950	8187	2	2002	No difference was found in the alpha2M mean plasma levels associated with the three alpha2M genotypes, indicating that the deletion has no effect on alpha2M protein level. However, in AD patients alpha2M mean plasma values differed significantly according to apolipoprotein E genotypes (p=0.03), with E3/E3 homozygotes showing the highest levels. Since in a previous work E3/E3 were found to be associated with the highest plasma levels of alpha1-antichymotrypsin, another acute-phase protein, the present findings seem to support the hypothesis that inflammation may be a relevant factor in AD pathogenesis peculiar to E3/E3 subjects.	Control:157:controls;Case:93 ultraoctuagenarian patients with late-onset sporadic Alzheimer's disease										
114498	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Zappia, M.  et al. 2002	12221172	Val1000			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Italian	Italy	CDC GDPinfo	2	Hs.212838			Neurology. 2002 Sep;59(5):756-8	Genetic association of alpha2-macroglobulin polymorphisms with AD in southern Italy.		103950	8188	2	2002	The A2M-I and A2M-Val1000 alleles were more frequent in cases than in controls, and this effect was independent from the APOE-epsilon4 status as well as from the age at onset of AD. Moreover, subjects carrying the A2M genotype I/I-Val/Val had a threefold increase of risk for AD. These data support a population-based susceptibility for AD linked to A2M polymorphisms.	Case Alzheimer's disease patients southern Italy;Control:controls										
114499	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		12	12p13.3-p12.3	A2M	9111570	9159825		Sun, Y.  et al. 2005	15793779	Val1000			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese		CDC GDPinfo	2	Hs.212838			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):174-9	[No evidence for genetic association between alpha-2 macroglobulin I1000V polymorphism and sporadic Alzheimer's disease in two independent Chinese populations]		103950	8189	2	2005	 The results of this study revealed no association between the I1000V polymorphism of A2M and Chinese sporadic AD in Guangzhou and Chengdu.	Control:242/113 controls (242 from Guangzhou and 113 from Chengdu);Case:257/112 patients with Alzheimer's disease (257 from Guangzhou and 112 from Chengdu) Guangzhou and Chengdu, China										
114494	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Nicosia, F.  et al. 2001	11455130				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Dementia and geriatric cognitive disorders. 2001 S	Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's disease.		103950	8184	2	2001	Our results did not show any significant difference between A2M-2 allelic frequency (p = 0.89) or genotype frequency (p = 0.97) in the two different clinical series and in control subjects. The frequencies were not significantly different after stratification by APOE epsilon4 status.	Case Alzheimer's disease patients from 2 clinical series;Control not specified in abstract										
114495	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Janka, Z.  et al. 2002	11901360	exon 24 (Val-1000-Ile			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Hungary	CDC GDPinfo	2	Hs.212838			Psychiatric genetics. 2002 Mar;12(1):49-54	Alpha2-macroglobulin exon 24 (Val-1000-Ile) polymorphism is not associated with late-onset sporadic Alzheimer's dementia in the Hungarian population.		103950	8185	2	2002	Our data suggest that, although A2M has an important role in the AD-specific NEUROLOGICALenerative process, its exon 24 Val-1000-Ile polymorphism is not likely to be associated with late-onset sporadic AD in the Hungarian population.	Case Hungarian Alzheimer's disease patients;Control not specified in abstract										
114496	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Styczynska, M.  et al. 2001	11987698				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Poland	CDC GDPinfo	2	Hs.212838			Neurologia i neurochirurgia polska. 2001 Nov-Dec;35(6):1013-20	[Alpha2-macroglobulin gene polymorphism in patients with Alzheimer's disease]		103950	8186	2	2001	The lack of statistically significant difference between G/G frequencies in both groups of patients may suggest that alpha 2-macroglobulin G/G genotype is not a risk factor for AD.	Control:58 nondemented controls (F = 36, M. = 22, mean age 73.1 +/- 8.3, mean MMSE score 27);Case:60 Alzheimer's disease patients (F = 41, M. = 19, mean age 73.3 +/- 6.3) )										
114490		alpha2-macroglobulin	OTHER	OTH		12	12p13.3-p12.3	A2M	9111570	9159825		Birkenmeier G 2003	14637088				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Experimental neurology. 2003 Nov;184(1):153-61	Human alpha2-macroglobulin: genotype-phenotype relation.		103950	7029	1	2003	The absence of abnormalities in alpha2-M mRNA and protein suggests that the alpha2-M deletion polymorphism is probably not associated with functional deficiencies important in AD pathology. However, it can be speculated that the observed general age-related alpha2-M deficiency may lead to accelerated accumulation of amyloid-beta, which might be relevant to AD pathology.	Cohort 227 healhty Caucasian										
114492	N	Alzheimer's Disease	PSYCH	PSY	Alzheimer Disease|Cognition Disorders	12	12p13.3-p12.3	A2M	9111570	9159825		Zill, P.  et al. 2000	11058789				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	CDC GDPinfo	2	Hs.212838			Neuroscience letters. 2000 Nov;294(2):69-72	Polymorphisms in the alpha-2 macroglobulin gene in psychogeriatric patients.		103950	8182	2	2000	This study failed to show an association between the two investigated polymorphisms in the alpha-2 macroglobulin gene and any of the four different psychogeriatric patient subgroups, either alone or in combination with the APOE varepsilon4 genotype.	Control:118 healthy, non demented controls;Case:238 Alzheimer's disease (N=88),mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders:(N=64)										
114493	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Nacmias, B.  et al. 2001	11166925				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Italian	Italy	CDC GDPinfo	2	Hs.212838			Neuroscience letters. 2001 Feb;299(2-Jan):12-Sep	alpha2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease		103950	8183	2	2001	Our data do not support a role for the A2M gene as genetic risk factor for AD.	Case:248 sporadic and familial AD patients:Italy;Control:98 non AD individuals:Italy										
114486	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Blacker D et al. 1998	9697696				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Nature genetics. 1998 Aug;19(4):357-60	Alpha-2 macroglobulin is genetically associated with Alzheimer disease.		103950	7025	1	1998												
114488	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Zappia M 2004	15023809				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Italy	KGB	2	Hs.212838			Archives of neurology. 2004 Mar;61(3):341-4	Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.		103950	7027	1	2004	 The MPO and A2M polymorphisms are associated with sporadic AD in southern Italy. Moreover, a genomic interaction between these polymorphisms increases the risk of the development of AD.	Case:148 patients with sporadic Alzheimer's disease Calabria, southern Italy;Control:158 healthy controls										
114489	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Camelo D 2004	14759632				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Colombia	KGB	2	Hs.212838			Journal of the neurological sciences. 2004 Mar;218(2-Jan):47-51	Angiotensin-converting enzyme and alpha-2-macroglobulin gene polymorphisms are not associated with Alzheimer's disease in Colombian patients.		103950	7028	1	2004	Using logistic regression and multiple correlation analysis (MCA), we confirmed that the main risk factor associated and consistently grouped with AD patients in this population is APOE4, but this association was not observed with alleles and genotypes of ACE and A2M.	Control:69 nromal controls;Case:83 Alzheimer's disease patients:Colombia										
114482	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Alvarez V et al. 1999	10527839				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Biochemical and biophysical research communications. 1999 Oct;264(1):48-50	Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease.		103950	7021	1	1999												
114483	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Hu CJ et al. 1999	10449138				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Chinese	Taiwan	KGB	2	Hs.212838			Neurology. 1999 Aug;53(3):642-3	No association of alpha-2 macroglobulin gene five-nucleotide deletion with AD in Taiwan Chinese.		103950	7022	1	1999												
114484	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Crawford F 1999	10462112	Val100011e??			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Neuroscience letters. 1999 Aug;270(3):133-6			103950	7023	1	1999	We conclude that  there is no genetic association between A2M and AD in our case-control sample.	Case:295; Control:113										
114485	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Nicoletti G et al. 2002	12123860				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Neuroscience letters. 2002 Aug;328(1):65-7	No evidence of association between the alpha-2 macroglobulin gene and Parkinson's disease in a case-control sample.		103950	7024	1	2002	The present data suggest that these polymorphisms do not represent a risk factor for PD and do not modulate the age at onset of PD.	Case:159 Parkinson's disease patients;Control:190 normal controls										
114478		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Verpillat P et al. 2000	10976654				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Annals of neurology. 2000 Sep;48(3):400-2	Alpha2-macroglobulin gene and Alzheimer's disease: confirmation of association by haplotypes analyses.		103950	7017	1	2000												
114479	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Higuchi S et al. 2000	10817585				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Neuroreport. 2000 Apr;11(6):1167-71	Alpha2-macroglobulin gene polymorphisms show racial diversity and are not associated with Alzheimer's disease.		103950	7018	1	2000												
114480	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Wavrant-DeVrieze F et al. 1999	10203250				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Neuroscience letters. 1999 Mar;262(2):137-9	No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.		103950	7019	1	1999												
114481	Y	argyrophilic grain disease	NEUROLOGICAL	NEUR	Tauopathies	12	12p13.3-p12.3	A2M	9111570	9159825	0.03	Ghebremedhin E et al. 2002	12175343	G/A	Val1000Ile	coding sequence	Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Neuropathology and applied neurobiology. 2002 Aug;28(4):308-13	Genetic association of argyrophilic grain disease with polymorphisms in alpha-2 macroglobulin and low-density lipoprotein receptor-related protein genes.		103950	7020	1	2002		Case:72; Control:170										
114474	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Gibson AM 2000	10668708	A2M-2 and Valine- 1000- isoleucine			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Neurology. 2000 Jan;54(2):433-8			103950	7013	1	2000	 The A2M deletion polymorphism at most accounts for a small fraction of the genetic contribution toward AD, and this is small compared with APOE. Furthermore, reverse transcriptase PCR of A2M RNA from the brains of patients homozygous for the deletion polymorphism showed that the bait domain exon still is present in the RNA. This suggests that the A2M deletion polymorphism may be nonfunctional and that the chromosome 12 AD locus is situated elsewhere.	Case:195; Control:107										
114475	Y	Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	p= 0.025	Dodel RC 2000	10668709	5` splice site of exon 18			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Neurology. 2000 Jan;54(2):438-42			103950	7014	1	2000	 Our data support an association between the A2M gene and AD. This association is less pronounced, however, in our cohort than in the previously reported sample of sibpairs.	Case:309; Control:281										
114477	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.3-p12.3	A2M	9111570	9159825		Zapico I et al. 2000	11036822				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			The Journal of rheumatology. 2000 Oct;27(10):2308-11	A DNA polymorphism at the alpha2-macroglobulin gene is associated with the severity of rheumatoid arthritis.		103950	7016	1	2000	 The genetic variation at alpha2m is associated with the severity of RA. Carriers of the alpha2m deletion allele would have increased risk of developing an early active severe form of the disease. Our data suggest that alpha2m could be a valuable target in the treatment of RA.	Case:160 patients (71 with early active severe RA, 89 with non-severe RA);Control:500 healthy controls from the same Caucasian population:Asturian/Spanish										
114470	Y	Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	P < 0.01	Liao A 1998	9811940	Val1000lle??			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Human molecular genetics. 1998 Nov;7(12):1953-6			103950	7009	1	1998		Case:737; Control:449										
114471	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Shibata N 1999	10477120	A2M-2			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Japanese	Japan	TJB	2	Hs.212838			Neuroscience letters. 1999 Aug;271(2):132-4			103950	7010	1	1999		Case:55; Control:69										
114472	N	Cerebral Amyloid Angiopathy (CAA)	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease|Cadaver	12	12p13.3-p12.3	A2M	9111570	9159825	n	Yamada M 1999	10548657	A2M deletion polymorphism			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Stroke; a journal of cerebral circulation. 1999 Nov;30(11):2277-9			103950	7011	1	1999	 Our results suggest that the A2M deletion polymorphism may not be a definitive risk factor of CAA in the elderly, although further study with larger samples is necessary to confirm this.	Case:68; Control:110										
114473	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Sodeyama N 2000	10668711	?????			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Japanese	Japan	TJB	2	Hs.212838			Neurology. 2000 Jan;54(2):443-6			103950	7012	1	2000	 The A2M polymorphism does not affect the development of sporadic AD or formation of AD-type neuropathologic changes.	Case:62; Control:90										
114465	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Schweer D 2001	11498265	Val 1000 I1e and exon 18 del			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	TJB	2	Hs.212838			Journal of neuroimmunology. 2001 Aug;118(2):300-3	No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis.		103950	7004	1	2001	The results do not suggest a contribution of A2M and LRP to the development of MS.	Control:290 healty donors without personal or family history of MS, comparable to cases with respect to ethnicity,:age, gender;Case:326 MS patients										
114466	N	Psychogeriatric	PSYCH	PSY	Alzheimer Disease|Cognition Disorders	12	12p13.3-p12.3	A2M	9111570	9159825	n	Zill P 2000	11058789	5 bp deletion at the 5` splice site of exon 18 and V1000I in exon 24????			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	TJB	2	Hs.212838			Neuroscience letters. 2000 Nov;294(2):69-72	Polymorphisms in the alpha-2 macroglobulin gene in psychogeriatric patients.		103950	7005	1	2000	This study failed to show an association between the two investigated polymorphisms in the alpha-2 macroglobulin gene and any of the four different psychogeriatric patient subgroups, either alone or in combination with the APOE varepsilon4 genotype.	Control:118 healthy, non demented controls;Case:238 Alzheimer's disease (N=88),mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders:(N=64)										
114467	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Korovaitseva GI 1999	10477119	A2M-2 (deletion allele)			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			Neuroscience letters. 1999 Aug;271(2):129-31			103950	7006	1	1999		Case:146; Control:160										
114468	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Hashim Y 2001	11793025	I/D			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Caucasian		TJB	2	Hs.212838			Diabetologia. 2001 Dec;44(12):2227-30			103950	7007	1	2001		Case:276; Control:351										
114461	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Blennow K 2000	11041282	A2M-2			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			TJB	2	Hs.212838			J Neural Transm. 2000 ;107(9-Aug):1065-79			103950	7000	1	2000		Case:449; Control:349										
114462	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Shibata N 2000	10936700	I1000V polymorphism			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Japanese	Japan	TJB	2	Hs.212838			Neuroscience letters. 2000 Aug;290(2):154-6			103950	7001	1	2000		Case:95; Control:111										
114463	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12p13.3-p12.3	A2M	9111570	9159825	p=0.008	Kruger R 2000	10943700	Val1000l1e???			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	German		TJB	2	Hs.212838			Neuroreport. 2000 Aug;11(11):2439-42			103950	7002	1	2000		Case:328; Control:322										
114464	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Ki CS 2001	11290389	5- bp del (exon18) polymorphisms			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Korean	Korea	TJB	2	Hs.212838			Neuroscience letters. 2001 Apr;302(3-Feb):69-72	Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease		103950	7003	1	2001	Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.	Control:50 age-matched healthy controls:Korea;Case:89 Korean late-onset Alzheimer's disease patients:Korea										
136890	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Volzke, H.  et al. 2004	12899665				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		191160	28121	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
136891		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		6	6p21.3	TNF	31651328	31654091		De Capei, M. U.  et al. 2003	12558814				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		191160	28122	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
136892		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	6	6p21.3	TNF	31651328	31654091		Noponen-Hietala, N.  et al. 2005	15733644				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		191160	28202	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
136887		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	6	6p21.3	TNF	31651328	31654091		Kim, M. S.  et al. 2004	15220553				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		191160	28118	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
136888		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091			16389181				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		191160	28119	2	2006												
136889		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Sandford, A. J.  et al. 2002	12149538				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		191160	28120	2	2002	Review article		smoking (tobacco)									
136884		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Hoffmann, S.  et al. 2004	15458467				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		191160	28012	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
136885		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Nguyen, D. P.  et al. 2004	15292002				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		191160	28013	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
136886		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	6	6p21.3	TNF	31651328	31654091		Lehrnbecher, T.  et al. 2005	16107886				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		191160	28014	2	2005												
136881		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Shaw, G. M.  et al. 2005	16100725				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		California	CDC GDPinfo	7124	Hs.241570			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		191160	28009	2	2005			smoking (tobacco), maternal									
136882		Parkinson's disease	NEUROLOGICAL	NEUR		6	6p21.3	TNF	31651328	31654091		Nishio, K.  et al. 2004	15279067				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		191160	28010	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
136883		allograft rejection, heart	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Vamvakopoulos, J. E.  et al. 2002	12095061				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		191160	28011	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
136878		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Matthias, C.  et al. 2003	12548461				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		191160	28006	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
136879		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	6	6p21.3	TNF	31651328	31654091		Tsao, B. P.   2002	12126589				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		191160	28007	2	2002	Review article											
136880		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Nejentsev, S.  et al. 2000	11118029				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		191160	28008	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
136875		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	6	6p21.3	TNF	31651328	31654091		Ligeiro, D.  et al. 2004	15194285				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		191160	27865	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
136876		kidney transplant complications	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091			16378074				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		191160	27866	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
136877		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	6	6p21.3	TNF	31651328	31654091		Freeman, B. D.  et al. 2002	12411588				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		191160	27867	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
136872		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	TNF	31651328	31654091		Brown, M. A.  et al. 2002	12118167				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		191160	27862	2	2002	Review article											
136873		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Konenkov, V. I.  et al. 2001	12687213				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		191160	27863	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
136874		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Airoldi, A.  et al. 2004	15548263				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	European		CDC GDPinfo	7124	Hs.241570			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		191160	27864	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
136869		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	6	6p21.3	TNF	31651328	31654091		Nishimura, M.  et al. 2003	12651071				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		191160	27859	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
136870		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TNF	31651328	31654091		Martinez, A.  et al. 2004	15077289				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		191160	27860	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
136871		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Miterski, B.  et al. 2004	15018649				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Germany	CDC GDPinfo	7124	Hs.241570			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		191160	27861	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
136866		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	6	6p21.3	TNF	31651328	31654091		Nieters, A.  et al. 2001	11354638				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	German	Germany	CDC GDPinfo	7124	Hs.241570			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		191160	27856	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
136867		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Combarros, O.  et al. 2005	15854776				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		191160	27857	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
136868		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16324093				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Italy	CDC GDPinfo	7124	Hs.241570			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		191160	27858	2	2005												
136863		kidney transplant complications	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		McDaniel, D. O.  et al. 2003	12727482				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American		CDC GDPinfo	7124	Hs.241570			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		191160	27654	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
136864		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Howell, W. M.  et al. 2005	15917409				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		191160	27655	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
136865		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Tsuchiya, N.  et al. 2003	12858454				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		191160	27855	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
136860		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gaede, K. I.  et al. 2005	15750822				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		United States|Israel|Germany	CDC GDPinfo	7124	Hs.241570			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		191160	27651	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
136861		kidney transplant	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Lacha, J.  et al. 2005	15848524				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		191160	27652	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
136862		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	6	6p21.3	TNF	31651328	31654091		Upperman, J. S.  et al. 2005	15718915				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American		CDC GDPinfo	7124	Hs.241570			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		191160	27653	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
136857		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Parks, C. G.  et al. 2004	15219382				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Southeastern United States	CDC GDPinfo	7124	Hs.241570			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		191160	27648	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries										
136858		preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	6	6p21.3	TNF	31651328	31654091		Engel, S. A.  et al. 2005	15951664				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		North Carolina	CDC GDPinfo	7124	Hs.241570			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		191160	27649	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
136859		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Thomson, W.  et al. 2002	12223104				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		191160	27650	2	2002	Review article											
136854	Y	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	6	6p21.3	TNF	31651328	31654091		Ruigrok, Y. M.  et al. 2005	15726267				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		191160	27645	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
136855	Y	hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	TNF	31651328	31654091		Bougacha-Elleuch, N.  et al. 2004	15236755				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Tunisian	Tunisia	CDC GDPinfo	7124	Hs.241570			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		191160	27646	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
136856		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Meddeb-Garnaoui, A.  et al. 2001	11334675				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Mediterranean Region	CDC GDPinfo	7124	Hs.241570			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		191160	27647	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
136851		periodontal disease	IMMUNE	IMM	Periodontitis|Inflammation	6	6p21.3	TNF	31651328	31654091		D'Aiuto, F.  et al. 2004	15341923				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cytokine. 2004 Oct;28(1):29-34	Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections		191160	27307	2	2004	These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.	Cohort 94 subjects with periodontitis 										
136852		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Li, S.  et al. 2004	15009808				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		191160	27643	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
136853		asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Nanavaty, U.  et al. 2001	11202474				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		191160	27644	2	2001	Review article											
136848		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Pain|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Oen, K.  et al. 2005	15901906				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Rheumatology (Oxford, England). 2005 Sep;44(9):1115-21	Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis.		191160	27304	2	2005	 The correlation of IL-6 genotype with pain and the possible association of the TGF-beta1 codon 25 genotype with short-term radiographic damage (G/C with greater risk and G/G with decreased risk) suggests that both these polymorphisms may be useful early prognostic indicators. Further studies of the relation between cytokine genotypes and outcomes in patients with all forms of juvenile idiopathic arthritis (JIA) are warranted.	Cohort patients with juvenile rheumatoid arthritis who previously participated in a long-term outcome study 										
136849	Y	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	0.0008	Barber, R. C.  et al. 2004	15520404			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of medical genetics. 2004 Nov;41(11):808-13	TLR4 and TNF-alpha polymorphisms are associated with an increased risk for severe sepsis following burn injury.	rs1800629	191160	27305	2	2004	 The TLR4 +896 and TNF-alpha -308 polymorphisms were significantly associated with an increased risk for severe sepsis following burn trauma.	Cohort 159 patients with burns >/=20% of their total body surface area or any smoke inhalation injury without significant non-burn related trauma or spinal cord injury, and survived >48 h post-admission 										
136850		appendicitis	INFECTION	INF	Appendicitis|Acute Disease	6	6p21.3	TNF	31651328	31654091		Rivera-Chavez, F. A.  et al. 2004	15273551				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of surgery. 2004 Aug;240(2):269-77	Innate immunity genes influence the severity of acute appendicitis.		191160	27306	2	2004	 Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.	Cohort 134 patients with acute appendicitis treated at an urban hospital 										
136845		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Embryo Loss	6	6p21.3	TNF	31651328	31654091		Costeas, P. A.  et al. 2004	14969768				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2004 Feb;65(2):135-41	Th2/Th3 cytokine genotypes are associated with pregnancy loss		191160	27301	2	2004	Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.	Case abortion-prone female patients;Control women with successful pregnancies										
136846	Y	allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gentile, D. A.  et al. 2004	15120189				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2004 Apr;65(4):347-51	Association between TNF-alpha and TGF-beta genotypes in infants and parental history of allergic rhinitis and asthma.		191160	27302	2	2004	These results suggest a role for TNF-alpha and TGF-beta1 genotypes in the pathogenesis of allergic rhinitis and asthma, respectively. If confirmed by future studies, cytokine genotyping may be a useful tool for identifying at-risk infants who may benefit from the selective use of preventative and/or early intervention treatments for these disorders.	Cohort 124 infants 										
136847		lung transplant complications	OTHER	OTH	Acute Disease	6	6p21.3	TNF	31651328	31654091		Zheng, H. X.  et al. 2004	15135368				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of heart and lung transplantation. 2004 May;23(5):541-6	Interleukin-10 production genotype protects against acute persistent rejection after lung transplantation.		191160	27303	2	2004	 In lung transplant recipients, the increased IL-10 production genotype protects against acute persistent rejection when compared with the intermediate or decreased IL-10 production genotypes. The intermediate IL-10 production genotype in lung transplant recipients can be differentiated into 2 haplotype responses, with the GCC/ACC haplotype associated more with acute persistent rejection. In lung transplant recipients, the immunomodulatory effects of IL-6 are differentiated in the G/C and G/G alleles in conjunction with IL-10 haplotypes, with G/C being associated with more acute persistent rejection in conjunction with the IL-10 GCC/ACC haplotype. Future pharmacogenomic models may incorporate these associations with acute persistent rejection in lung transplant recipients to formulate individualized therapeutic regimens.	Cohort 119 adult lung tranplantation recipients who underwent surveillance transbronchial biopsies during their first year after transplantation 										
136842		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Bendicho, M. T.  et al. 2005	15841043				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Pancreas. 2005 May;30(4):333-6	Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis.		191160	27298	2	2005	 The genotypes corresponding to the high TGF-beta1 producer phenotypes can be associated with the fibrogenesis shown with CP.	Case:28 chronic pancreatitis patients evaluated at a university gastroenterology outpatient service;Control:94 blood donors										
136843		tuberculosis	INFECTION	INF	Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	6	6p21.3	TNF	31651328	31654091		Henao, M. I.  et al. 2005	15925543				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Colombian		CDC GDPinfo	7124	Hs.241570			Tuberculosis (Edinburgh, Scotland). 2006 Jan;86(1):9-Nov	Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis.		191160	27299	2	2005	Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.	Case:140/30/20 patients with pulmonary TB (n=140), with pleural TB (n=30) and with miliary TB (n=20);Control:54/81 tuberculin-negative healthy controls (n=54) and tuberculin-positive heatlhy controls (n=81)										
136844		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Mihailova, S.  et al. 2005	16183136				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Bulgaria	CDC GDPinfo	7124	Hs.241570			Journal of neuroimmunology. 2005 Nov;168(2-Jan):138-43	Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients.		191160	27300	2	2005												
136839	N	liver transplant	OTHER	OTH		6	6p21.3	TNF	31651328	31654091		Karasu, Z.  et al. 2004	15621151				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2004 Nov;36(9):2791-5	Cytokine gene polymorphism and early graft rejection in liver transplant recipients.		191160	27295	2	2004	In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.	Cohort 43 Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group. 										
136840	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	TNF	31651328	31654091		Migita, K.  et al. 2005	15763337				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			Journal of hepatology. 2005 Apr;42(4):505-10	Cytokine gene polymorphisms in Japanese patients with hepatitis B virus infection--association between TGF-beta1 polymorphisms and hepatocellular carcinoma.		191160	27296	2	2005	 Our findings suggest that the genetic polymorphism in codon 10 of the TGF-beta1 gene may play a role in HCC development in patients with chronic HBV infection.	Cohort 236 Japanese patients with hepatitis B virus 	hepatitis B									
136841		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	6	6p21.3	TNF	31651328	31654091		Basturk, B.  et al. 2005	15784411				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cytokine. 2005 Apr;30(1):41-5	Cytokine gene polymorphisms as potential risk and protective factors in renal cell carcinoma.		191160	27297	2	2005	Nevertheless, these findings suggest that the TNF-alpha -308 G/G and TGF-beta codon 10-25 T/T-G/C genotypes may be potential risk factors for RCC, whereas TNF-alpha -308 G/A, IL-6 C/C and TGF-beta1 codon 10-25 C/C-G/G genotypes may be possible protective factors. The number of the cases has to be increased to investigate the independency of these polymorphisms involved in the oncogenesis of RCC.	Case:29 patient with renal cell carcinoma;Control:50 healthy controls										
136836		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	6	6p21.3	TNF	31651328	31654091		Prigoshin, N.  et al. 2004	15214940				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		CDC GDPinfo	7124	Hs.241570			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):36-41	Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause.		191160	27292	2	2004	 This finding would support the concept of involvement of IFN-gamma +874 A --> T in the pathogenesis of RPL of unknown cause in the Caucasian Argentine population.	Case:41 women with reccurent pregnancy loss;Control:54 control women who had at least two children and without known pregnancy losses										
136837	Y	kidney transplant	IMMUNE	IMM	Acute Disease	6	6p21.3	TNF	31651328	31654091		Alakulppi, N. S.  et al. 2004	15599305				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2004 Nov;78(10):1422-8	Cytokine gene polymorphisms and risks of acute rejection and delayed graft function after kidney transplantation.		191160	27293	2	2004	 Our results confirm that cytokine gene polymorphisms influence the outcome of kidney transplantation. Our data especially identify the TNF-alpha -308AA-genotype as a factor predisposing for AR episodes.	Cohort 291 conors and adult cadaver kidney recipients transplanted at a single transplantation center 1999 - 2002 										
136838		renal allograft outcome	UNKNOWN	UNK		6	6p21.3	TNF	31651328	31654091		Delaney, N. L.  et al. 2004	15603866				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American		CDC GDPinfo	7124	Hs.241570			Human immunology. 2004 Dec;65(12):1413-9	TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops:Part IV.		191160	27294	2	2004	Because levels of expression can affect inflammation and immune regulation, differences in cytokine allele frequencies between racial or ethnic groups may contribute to different incidences of autoimmunity and allograft rejection.	Cohort 691/296 unrelated adult African Americans (n=691) and Cuban Americans (n=296) 										
136833		heart failure	CARDIOVASCULAR	CARD	Shock, Cardiogenic|Critical Illness	6	6p21.3	TNF	31651328	31654091		Appoloni, O.  et al. 2004	15189946				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Chest. 2004 Jun;125(6):2232-7	Association between the TNF-2 allele and a better survival in cardiogenic shock.		191160	27289	2	2004	 Patients with the TNF-2 allele have no greater risk of cardiogenic shock but a better survival rate when it develops. Different genetic factors appear to influence the risk of development of, and outcome from, cardiogenic shock.	Case:33 adult patients with cardiogenic shock of recent (< 4 h) onset;Control:48 healthy control subjects										
136834		kidney transplant	IMMUNE	IMM	Hypertension|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease|Hyperuricemia	6	6p21.3	TNF	31651328	31654091		Babel, N.  et al. 2004	15200452				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Kidney international. 2004 Jul;66(1):428-32	Nonimmunologic complications and gene polymorphisms of immunoregulatory cytokines in long-term renal transplants		191160	27290	2	2004	 We established an association of particular cytokine genotypes with nonimmunologic post-transplant complications. This supports an idea that assessment of cytokine SNPs may allow more accurate prediction of nonimmunologic complications and appropriate adjustment of pre-emptive treatments in long-term transplant patients.	Cohort 278 long-term renal transplant subjects 										
136835		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Recurrence	6	6p21.3	TNF	31651328	31654091		Ben-Ari, Z.  et al. 2004	15207246				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cytokine. 2004 Jul;27(1):14-Jul	Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation		191160	27291	2	2004	These findings might help to design preemptive prevention therapy in selected patients at risk.	Cohort 36 chronic hepatitis C patients 										
136830	N	hepatitis C	INFECTION	INF	Hepatitis C	6	6p21.3	TNF	31651328	31654091		Barrett, S.  et al. 2003	12938195				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection		191160	27286	2	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive)) 										
136831		parvovirus	INFECTION	INF	Parvoviridae Infections	6	6p21.3	TNF	31651328	31654091		Kerr, J. R.  et al. 2003	14514772				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		191160	27287	2	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
136832	Y	kidney transplant complications	IMMUNE	IMM	Acute Disease	6	6p21.3	TNF	31651328	31654091		Gu, X. W.  et al. 2003	14625191				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1211-3	Cytokine gene polymorphism in sensitized kidney transplant recipients and its association with acute rejection episodes		191160	27288	2	2003	 TNF-alpha and IL-10 gene polymorphism may significantly influence the incidence of acute rejection episodes in sensitized kidney transplants, for whom determination of TNF-alpha and IL-10 genotype might help design feasible immunosuppressive protocols.	Cohort 97 sensitized kidney transplant recipients 										
136827		bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans	6	6p21.3	TNF	31651328	31654091		Lu, K. C.  et al. 2002	12451269				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2002 Nov;74(9):1297-302	Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation.		191160	27283	2	2002	 The presence of high-expression polymorphisms at position -174 of the IL-6 gene and position +874 of the IFN-gamma gene significantly increases the risk for BOS development after lung transplantation.	Cohort 93 lung allograft recipients 										
136828		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	6	6p21.3	TNF	31651328	31654091		Gentile, D. A.  et al. 2003	12507818				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2003 Jan;64(1):93-8	Cytokine gene polymorphisms moderate responses to respiratory syncytial virus in adults.		191160	27284	2	2003	These results suggest that certain cytokine gene polymorphisms moderate immune responses and illness severity in adults experimentally exposed to RSV.	Cohort 29 adults experimentally inoculated with respiratory syncytial virus 										
136829		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Otitis Media	6	6p21.3	TNF	31651328	31654091		Gentile, D. A.  et al. 2003	12590978				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2003 Mar;64(3):338-44	Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.		191160	27285	2	2003	These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.	Cohort 77 infants hospitalized with confirmed RSV infection 										
136824	Y	allograft outcome	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Awad, M. R.  et al. 2001	11404167				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of heart and lung transplantation. 2001 Jun;20(6):625-30	The effect of cytokine gene polymorphisms on pediatric heart allograft outcome.		191160	27280	2	2001	 Genetic polymorphisms that have been associated with low TNF-alpha and high IL-10 production are associated with a lower number of acute rejection episodes after pediatric heart transplantation.	Control:29 heart donors;Case:93 pediatric heart transplant recipients										
136825		cell-surface B7 expression; cytokine production	UNKNOWN	UNK		6	6p21.3	TNF	31651328	31654091		Hutchings, A.  et al. 2002	11906646				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American		CDC GDPinfo	7124	Hs.241570			Pediatric transplantation. 2002 Feb;6(1):69-77	Association of cytokine single nucleotide polymorphisms with B7 costimulatory molecules in kidney allograft recipients.		191160	27281	2	2002	These data raise the possibility that specific genotypes are associated with local cytokine regulation of cell-surface costimulatory molecule expression. African-American patients may have a genetically determined, quantitatively different immune response than Caucasian patients, contributing to adverse transplant outcomes.	Cohort African-American and Caucasian renal transplant recipients 										
136826		multiple sclerosis	IMMUNE	IMM	Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gourley, I. S.  et al. 2002	12232842				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Kenya	CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2002 Oct;186(7):1007-12	Profound bias in interferon-gamma and interleukin-6 allele frequencies in western Kenya, where severe malarial anemia is common in children.		191160	27282	2	2002	The cohort displayed a marked bias toward genotypes associated with low expression of IFN-gamma and IL-6, cytokines that, at high levels, have been implicated in malarial anemia and poor malaria outcomes. By contrast, the frequency of the TNF-alpha -238A allele, which has been associated with severe malarial anemia, was found to be similar to the frequency previously reported in comparison populations in Africa and elsewhere. IFN-gamma and IL-6 genotypes may play roles in the development of severe malaria and could contribute to the relative frequency of severe malarial anemia or cerebral malaria in exposed populations.	Cohort young men Western Kenya 										
136821		kidney graft survival	RENAL	REN		6	6p21.3	TNF	31651328	31654091		Neumann, J.  et al. 2001	11266927				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):501	Cytokine polymorphism and kidney graft survival at a single center.		191160	27277	2	2001	Our findings suggest that more patients should be studied and, if our results are confirmed, we should be able to tailor immunosuppression according to each patient's risk.	Cohort 35 kidney graft receptors 1992-1999 										
136822		graft-vs-host disease	IMMUNE	IMM	Graft vs Host Disease	6	6p21.3	TNF	31651328	31654091		Tambur, A. R.  et al. 2001	11266928				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):502-3	Cytokine gene polymorphism in patients with graft-versus-host disease.		191160	27278	2	2001	In view of these data, and other recent reports in the literature, the role of TGF-beta in manipulating immune response should be reassessed.	Case:24 bone marrow transplant recipients:1996-1999;Control:43 healthy controls										
136823		allograft outcome	IMMUNE	IMM	Hepatitis C|Genetic Predisposition to Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Tambur, A. R.  et al. 2001	11391238				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2001 May;71(10):1475-80	Role of cytokine gene polymorphism in hepatitis C recurrence and allograft rejection among liver transplant recipients.		191160	27279	2	2001	 While no significant correlation was detected between particular cytokine profile and early rejection episodes, our data strongly suggest an association between cytokine gene polymorphism of TGF-beta, IL-10, and INF-gamma and recurrence of hepatitis C in LTx recipients.	Control:49 healthy Caucasian individuals;Case:68 liver transplant recipients										
136818		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Spriewald, B. M.  et al. 2005	15708894				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of the rheumatic diseases. 2005 Mar;64(3):457-61	Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis.		191160	27274	2	2005	 Disease susceptibility and clinical course in WG may be associated with distinct polymorphisms of cytokine and CTLA4 genes.	Case:32 patients with generalized Wegener's granulomatosis;Control:91 healthy controls										
136819		hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6p21.3	TNF	31651328	31654091		Frossard, P. M.  et al. 2002	12009575				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		United Arab Emirates	CDC GDPinfo	7124	Hs.241570			Molecular immunology. 2002 May;38(13-Dec):969-76	A study of five human cytokine genes in human essential hypertension		191160	27275	2	2002	However, although they do not reach statistical significance (which may be due to the relatively restricted number of subjects included in this study), the distribution differences (in normotensives and hypertensives) observed in the cases of EGF and TNF-alpha reflect trends that could be expected from a mechanistic explanation of the pathways that underlie the patho-physiology of hypertension.	Case:81:hypertensives Abu Dhabi Emirate;Control:93:normotensives										
136820		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cantor, M. J.  et al. 2005	15842590				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The American journal of gastroenterology. 2005 May;100(5):1134-42	The role of cytokine gene polymorphisms in determining disease susceptibility and phenotype in inflammatory bowel disease.		191160	27276	2	2005	 The cytokine gene polymorphisms studied here do not appear to influence IBD susceptibility. There does, however, appear to be an influence on disease phenotype, particularly on CD site.	Case:193 IBD patients (Crohn's disease (n=138) and ulcerative colitis (n=55));Control:92:controls										
136815	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Winterton, D. L.  et al. 2001	11258696				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8	Genetic polymorphisms as biomarkers of sensitivity to inhaled sulfur dioxide in subjects with asthma.		191160	27271	2	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.	Cohort 62 volunteers with physician-diagnosed asthma requiring regular asthma medication. 	sulfur dioxide									
136816		obesity	METABOLIC	MET	Obesity	6	6p21.3	TNF	31651328	31654091		Nieters, A.  et al. 2002	12395215				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		191160	27272	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
136817		diabetes, type 1; measles	IMMUNE	IMM	HIV Seropositivity	6	6p21.3	TNF	31651328	31654091		Tang, J.  et al. 2001	11250044				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Africa	CDC GDPinfo	7124	Hs.241570			Human immunology. 2001 Mar;62(3):269-78	Novel alleles at the lymphotoxin alpha (LTalpha) locus mark extended HLA haplotypes in native Africans.		191160	27273	2	2001	These findings suggest a preferential expansion of the human TNFc dinucleotide (CT/AG) repeat sequence and further imply the existence of two extended MHC lineages that have not been disrupted by recombinations.	Cohort 285/319 285 Rwandans and 319 Zambians Rwanda and Zambia 										
136811		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chen, C. C.  et al. 2005	16172101				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		191160	27267	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
136812		asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Migita, O.  et al. 2005	15969671				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		CDC GDPinfo	7124	Hs.241570			Clinical and experimental allergy. 2005 Jun;35(6):790-6	Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.		191160	27268	2	2005	 Our results suggest that LTA is one of the genes that contributes to susceptibility to atopic asthma, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population.											
136814		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Radha, V.  et al. 2002	12090088				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		191160	27270	2	2002	Review article											
136808		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Socie, G.  et al. 2001	11544434				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2001 Aug;72(4):699-706	Both genetic and clinical factors predict the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation		191160	27264	2	2001	 In addition to previously described clinical risk factors, genetic risk factors are independently associated with the risk of developing graft-versus-host disease and may, thus, be considered for the selection of the donor.	Cohort 100 consecutive patients who underwent allogeneic stem cell transplantation from an HLA-identical sibling donor 										
136809		asthma; eczema; allergic disease	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Meenagh, A.  et al. 2002	12392859				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2002 Nov;63(11):1055-61	Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America.		191160	27265	2	2002	No conclusion stated in abstract	Cohort Five population samples, including Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos. 										
136810		arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gonzalez, S.  et al. 2002	12022360				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of rheumatology. 2002 May;29(5):973-8	MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis.		191160	27266	2	2002	 Cw*0602 and MICA-A9 appear to be the strongest genetic susceptibility factors for PsA. However, MICA-A9 was associated independently of Cw6. HLA-B alleles and MICB-CA22 are associated secondarily to linkage with MICA. TNFA and HLA-DRB1 were not associated with PsA susceptibility, and our data suggest that their reported association may only reflect the linkage disequilibrium with MICA-A9 among the different populations studied.	Control:110 healthy controls;Case:81 Spanish patients with psoriatic arthritis										
136805		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Smith, K. C.  et al. 2004	15265021				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		191160	27261	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
136806	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Criswell, L. A.  et al. 2004	15457442				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		191160	27262	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
136807		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kamali-Sarvestani, E.  et al. 2005	15811521				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Iranian	Iran	CDC GDPinfo	7124	Hs.241570			Journal of reproductive immunology. 2005 Apr;65(2):171-8	Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women.		191160	27263	2	2005	It may be concluded that IL-10 polymorphism at position -592 could be a genetic factor for RPL.	Case:139 women with recurrent pregnancy loss:Iran;Control:143 contol women										
136802		asthma; eczema; allergic disease	IMMUNE	IMM	Parasitic Diseases|Autoimmune Diseases	6	6p21.3	TNF	31651328	31654091		Kurzawski, M.  et al. 2005	16164695				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Polish	Poland	CDC GDPinfo	7124	Hs.241570			International journal of immunogenetics. 2005 Oct;32(5):285-91	Frequencies of the common promoter polymorphisms in cytokine genes in a Polish population.		191160	27258	2	2005												
136803		renal allograft outcome	UNKNOWN	UNK	Acute Disease	6	6p21.3	TNF	31651328	31654091		Hahn, A. B.  et al. 2001	11544427				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2001 Aug;72(4):660-5	TNF-alpha, IL-6, IFN-gamma, and IL-10 gene expression polymorphisms and the IL-4 receptor alpha-chain variant Q576R: effects on renalallograft outcome		191160	27259	2	2001	 These data would suggest that the production of high levels of the cytokine TNF-alpha is especially detrimental to graft survival when the recipient's T-helper lymphocytes are being activated by mismatched donor HLA-class II antigens. Typing all potential kidney recipients for TNF-alpha, and providing well-matched organs for high producers of this cytokines, may be expected to increase rejection-free graft survival in these patients.	Cohort 120 transplant patients 										
136804	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	6	6p21.3	TNF	31651328	31654091		Lu, W.  et al. 2004	15579481				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Carcinogenesis. 2005 Mar;26(3):631-6	Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population.		191160	27260	2	2004	These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population.	Case:250 incident cases with gastric cancer Northern China;Control:300:controls										
136799		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Gastritis, Atrophic|Metaplasia	6	6p21.3	TNF	31651328	31654091		Rad, R.  et al. 2004	15247172				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Gut. 2004 Aug;53(8):1082-9	Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection.		191160	27255	2	2004	 Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and the long term development of precancerous lesions in H pylori infection. Host polymorphisms are associated with certain bacterial strain types, suggesting host specific colonisation or adaptation. These findings contribute to the understanding of the complex interplay between host and bacterial factors involved in the development of gastric pathology.	Cohort 207 H pylori infected patients with chronic gastritis 										
136800		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091		Zanardini, R.  et al. 2003	14563376				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of psychiatric research. 2003 Nov-Dec;37(6):457-62	Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.		191160	27256	2	2003	Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.	Case:169 northern Italian schizophrenic patients northern Italy;Control:177 unrelated healthy volunteers										
136801	N	renal transplantation, protein secretion in	UNKNOWN	UNK	Acute Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cartwright, N. H.  et al. 2001	11316066				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplant immunology. 2001 Feb;8(4):237-44	A study of cytokine gene polymorphisms and protein secretion in renal transplantation.		191160	27257	2	2001	In addition, no correlation was demonstrated between cytokine gene polymorphisms and renal allograft rejection.	Control:30 normal controls;Case:49 renal transplant patient-donor pairs										
136796		leukemia/lymphoma, T-Cell	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Tsukasaki, K.  et al. 2001	11325850				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		191160	27252	2	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
136797		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		De la Concha, E. G.  et al. 2002	12370403				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of immunology (Baltimore, Md :  1950). 2002 Oct;169(8):4637-43	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes.		191160	27253	2	2002	Our results show how, in complex diseases, individuals may be affected for different genetic reasons and a single linkage signal to a region of a chromosome may actually be the result of disease-predisposing alleles in different linked genes in different pedigrees.	Case:182 IgA deficiency patients (and parents and siblings of 100 of these patients);Control:343:controls										
136798		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing	6	6p21.3	TNF	31651328	31654091		Neri, T. M.  et al. 2003	14567462				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Italy	CDC GDPinfo	7124	Hs.241570			Digestive and liver disease. 2003 Aug;35(8):571-6	Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.		191160	27254	2	2003	 These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.	Control:183 normal controls of the same population;Case:64 primary sclerosing cholangitis patients Northern Italy										
136793		liver transplantation, immunosuppression after	IMMUNE	IMM	Substance Withdrawal Syndrome	6	6p21.3	TNF	31651328	31654091		Mazariegos, G. V.  et al. 2002	11981433				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2002 Apr;73(8):1342-5	Cytokine gene polymorphisms in children successfully withdrawn from immunosuppression after liver transplantation.		191160	26707	2	2002	 Children successfully maintained off immunosuppression are more likely to have a genetic predisposition toward low TNF-alpha and high/intermediate IL-10 production. Children maintained on minimal immunosuppression exhibit a similar cytokine profile to those successfully weaned.	Case:12/7 Pediatric liver transplant recipients who were successfully withdrawn from immunosuppression (n=12) or who are on minimal immunosuppression:(n=7);Control:37 liver recipients who required maintenance:immunosuppression										
136794	Y	allograft dysfunction, renal	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Tian, Y.  et al. 2002	12133353				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2002 Apr;40(4):256-8	[Influence of cytokine gene polymorphism on renal transplantation]		191160	26708	2	2002	 This study demonstrated that TNF-alpha and IL-10 gene polymorphism has significant influence on the incidence of acute rejection in renal transplantation.	Case:115 consecutive renal transplant recipients;Control:24 normal people										
136795		sepsis	INFECTION	INF	Sepsis|Critical Illness	6	6p21.3	TNF	31651328	31654091		Nakada, T. A.  et al. 2005	16051275				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			The Journal of surgical research. 2005 Dec;129(2):322-8	Influence of Toll-like Receptor 4, CD14, Tumor Necrosis Factor, and Interleukine-10 Gene Polymorphisms on Clinical Outcome in Japanese Critically Ill Patients.		191160	26709	2	2005												
136790		heart transplant complications	OTHER	OTH		6	6p21.3	TNF	31651328	31654091		Plaza, D. M.  et al. 2003	12909463				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of heart and lung transplantation. 2003 Aug;22(8):851-6	Cytokine gene polymorphisms in heart transplantation: association of low IL-10production genotype with Quilty effect		191160	26704	2	2003	 These results suggest that genetically controlled decreased IL-10 production predisposes to the development of Quilty lesions. The decreased negative regulatory effect of IL-10 on T cells and macrophages may result in enhanced graft infiltration.	Cohort 71 heart transplant recipients Dec 1985 - Dec, 2000 										
136791		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Alcoholism	6	6p21.3	TNF	31651328	31654091		Schneider, A.  et al. 2004	15066699				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Alcohol (Fayetteville, NY). 2004 Jan;32(1):19-24	Analysis of tumor necrosis factor-alpha, transforming growth factor-beta 1, interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis.		191160	26705	2	2004	We did not find an association between the different genotypes and the clinical course of the disease. Therefore, we assume that these genetic variants do not play a dominant role in alcoholic chronic pancreatitis.	Case:42 patients with alcoholic chronic pancreatitis;Control:94/73 control subjects for the TNF polymorphism (n=94) and for the other polymorphisms (n=73)										
136792		cardiomyopathy; heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Diseases|Disease Progression	6	6p21.3	TNF	31651328	31654091		Webber, S. A.  et al. 2002	15773449				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cardiology in the young. 2002 Oct;12(5):461-4	Polymorphisms in cytokine genes do not predict progression to end-stage heart failure in children.		191160	26706	2	2002	 No evidence is found to support the hypothesis that these polymorphisms for cytokine genes influence progression to end-stage heart failure in children undergoing transplantation because of cardiomyopathy or congenital heart disease.	Cohort 94 heart transplanted children 										
136787		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Delgado, J. C.  et al. 2002	12404162				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2002 Nov;186(10):1463-8	Ethnic-specific genetic associations with pulmonary tuberculosis.		191160	26701	2	2002	The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.	Control:106 tuberculin-positive controls subjects;Case:358 Cambodian patients with pulmonary TB:Cambodia										
136788		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	6	6p21.3	TNF	31651328	31654091		Meirhaeghe, A.  et al. 2005	15978856				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		France	CDC GDPinfo	7124	Hs.241570			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):293-9	Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.		191160	26702	2	2005												
136789		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Martins, A.  et al. 2005	16148556				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of gastroenterology & hepatology. 2005 Oct;17(10):1099-104	Are genetic polymorphisms of tumour necrosis factor alpha, interleukin-10, CD14 endotoxin receptor or manganese superoxide dismutase associated with alcoholic liver disease?		191160	26703	2	2005	 No association was found between the previously implicated polymorphisms of TNF-alpha, IL-10, CD14 and MnSOD, either individually or simultaneously, and the presence of established ALD.											
136784		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression|Inflammation	6	6p21.3	TNF	31651328	31654091		Leibovici, D.  et al. 2005	16110031				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of clinical oncology. 2005 Aug;23(24):5746-56	Polymorphisms in inflammation genes and bladder cancer: from initiation to recurrence, progression,and survival.		191160	26698	2	2005	 Inflammation gene polymorphisms are associated with modified BC risk, treatment response, and survival.		smoking (tobacco)									
136785		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Alenius, G. M.  et al. 2004	15517637				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of rheumatology. 2004 Nov;31(11):2230-5	Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis.		191160	26699	2	2004	 We identified an association between psoriatic arthritis and one of the microsatellite markers within the TNFB locus at the HLA region on chromosome 6. Linkage disequilibrium between TNFB123 and certain HLA-B antigens was found.	Case:120 patients with psoriasis and defined joint disease:Sweden;Control:94 controls with the same ethnic background as the patients from the same region as the cases										
136786		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hersh, C. P.  et al. 2005	15817713				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of respiratory cell and molecular biology. 2005 Jul;33(1):71-8	Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.		191160	26700	2	2005	Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.	Case chronic obstructive pulmonary disease cases;Control:controls										
136781		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	6	6p21.3	TNF	31651328	31654091		Kim, E. J.  et al. 2005	15667866				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Korea	CDC GDPinfo	7124	Hs.241570			Urology. 2005 Jan;65(1):70-5	Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome ofbladder cancer.		191160	26695	2	2005	 Our data collectively suggest that these genetic polymorphisms may be useful as prognostic markers for bladder cancer in the clinical setting.	Control:153 control subjects;Case:153 patietns with primary bladder cancer										
136782		bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chen, H. Y.  et al. 2005	15927351				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of obstetrics, gynecology, and reproductive biology. 2005 Sep;122(1):73-8	Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density andsusceptibility to osteoporosis.		191160	26696	2	2005	 The RsaI IL-10 promoter gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine.	Cohort postmenopausal women 										
136783		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091		Chang, Y. T.  et al. 2003	12653732				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese	China|Taiwan	CDC GDPinfo	7124	Hs.241570			The British journal of dermatology. 2003 Mar;148(3):418-23	A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.		191160	26697	2	2003	 HLA-Cw6 remains the most significant susceptibility gene in Chinese patients with psoriasis. However, the role of the CDSN gene in the pathogenesis of psoriasis deserves further scrutiny.	Case:105 Chinese patients with psoriasis vulgaris;Control:160 control subjects of similar ages										
136778		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fernandez, L.  et al. 2005	16116311				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Spanish	Spain	CDC GDPinfo	7124	Hs.241570			Inflammatory bowel diseases. 2005 Sep;11(9):785-91	A recombined haplotype in the major histocompatibility region contains a cluster of genes conferring high susceptibility to ulcerative colitis in the Spanish population.		191160	26692	2	2005	 The above-mentioned pattern, most likely formed by recombination of the telomeric fragment of the MHC 7.1 ancestral haplotype, seems to be the most important genetic determinant of susceptibility to the extensive form of UC in our population.											
136779	Y	malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Mombo, L. E.  et al. 2003	12641410				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Gabon	CDC GDPinfo	7124	Hs.241570			The American journal of tropical medicine and hygiene. 2003 Feb;68(2):186-90	Human genetic polymorphisms and asymptomatic Plasmodium falciparum malaria in Gabonese schoolchildren.		191160	26693	2	2003	We conclude that  G6PD A- heterozygous females are protected against all forms of P. falciparum malaria, and that the TNFalpha(-238A) allele confers protection against clinical malaria.	Cohort 158 Gabonese schoolchildren 										
136780	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TNF	31651328	31654091		Duvefelt, K.  et al. 2004	14651518				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2004 Jan;63(1):13-20	A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501.		191160	26694	2	2004	We conclude that  alleles of the NOTCH4 and TNFalpha genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6.	Control:180:controls;Case:181 multiple sclerosis										
136774		stroke; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hoppe, C.  et al. 2003	14615367				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Blood. 2004 Mar;103(6):2391-6	Gene interactions and stroke risk in children with sickle cell anemia.		191160	26688	2	2003	If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.	Cohort 230 children with sickle cell anemia 										
136775		urinary tract infection	UNKNOWN	UNK	Urinary Tract Infections|Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hughes, L. B.  et al. 2004	15526004				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2004 Dec;5(8):641-7	Genetic risk factors for infection in patients with early rheumatoid arthritis.		191160	26689	2	2004	These findings have important implications for the role of genetics in susceptibility to bacterial and viral infections.	Cohort 457 subjects with early rheumatoid arthritis 										
136776		typhoid fever	INFECTION	INF	Typhoid Fever|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Dunstan, S. J.  et al. 2001	11120931				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Vietnamese	Vietnam	CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2001 Jan;183(2):261-268	Genes of the class II and class III major histocompatibility complex are associated with typhoid fever in Vietnam.		191160	26690	2	2001	This report identifies a genetic association in humans between typhoid fever and MHC class II and III genes.	Case individuals with blod culture-confirmed typhoid:fever;Control:controls										
136771		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p21.3	TNF	31651328	31654091		McCarron, S. L.  et al. 2002	12067976				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cancer research. 2002 Jun;62(12):3369-72	Influence of cytokine gene polymorphisms on the development of prostate cancer.		191160	26685	2	2002	These results suggest that single nucleotide polymorphisms associated with differential production of IL-8, IL-10, and VEGF are risk factors for PC, possibly acting via their influence on angiogenesis.	Case:247 prostate cancer patients;Control:263:controls										
136772		inflammatory response, trauma induced	IMMUNE	IMM	Multiple Trauma|Genetic Predisposition to Disease|Inflammation|Systemic Inflammatory Response Syndrome	6	6p21.3	TNF	31651328	31654091			16317381				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Shock (Augusta, Ga). 2005 Dec;24(6):518-22	GENETIC PREDISPOSITION FOR A COMPROMISED IMMUNE SYSTEM AFTER MULTIPLE TRAUMA		191160	26686	2	2005												
136773		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6p21.3	TNF	31651328	31654091		Ross, O. A.  et al. 2004	15120188				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Irish	Ireland	CDC GDPinfo	7124	Hs.241570			Human immunology. 2004 Apr;65(4):340-6	Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish.		191160	26687	2	2004	This association further supports the theory that the proinflammatory response in the brains of patients with PD plays a role in the pathogenesis of the disease and warrants further investigation into the role of chemokines in the brain, and a more detailed analysis of the genetics involved in the immune response of the brain.	Case a cohort of patients with Parkinson's disease:Ireland;Control healthy elderly individuals										
136768		asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Bown, M. J.  et al. 2005	15787640				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			International journal of immunogenetics. 2005 Apr;32(2):83-90	A comparison of methods for determining genotypes at the tumour necrosis factor-alpha-308, interleukin (IL)-1beta+3953, IL-6 -174 and IL-10 -1082/-819/-592 polymorphic loci.		191160	26682	2	2005	IHG is a valid method for the determination of genotypes at the loci examined in this study and produces comparable results to those of more traditional methods of genotyping.	Cohort 90 patients consenting to participate in the study 										
136769		kidney transplant complications	IMMUNE	IMM	Cadaver	6	6p21.3	TNF	31651328	31654091		Loucaidou, M.  et al. 2005	15919456				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2005 May;37(4):1760-1	Cytokine polymorphisms do not influence acute rejection in renal transplantation under tacrolimus-based immunosuppression.		191160	26683	2	2005	 Cytokine polymorphisms did not influence acute rejection in our study. We conclude that in the modern era of immunosuppression cytokine genotyping is not a significant predictor of acute rejection in renal transplantation.											
136770		kidney disease; vascular disease	RENAL	REN	Renal Artery Obstruction|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		George, S.  et al. 2004	15104679				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2004 May;63(5):470-5	Renovascular disease is associated with low producer genotypes of the anti-inflammatory cytokine interleukin-10		191160	26684	2	2004	The increased frequency of the low producer IL-10 promoter, -1082 A-positive genotype in patients with renal artery stenosis, suggests that IL-10 may protect against the development of atherosclerotic renovascular disease.	Control:100 normal healthy individuals;Case:66 patients with atherosclerotic renal artery stenosis										
136765		carotid plaque	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Diabetes Mellitus, Type 2|Rupture	6	6p21.3	TNF	31651328	31654091		Giacconi, R.  et al. 2005	15992611				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Mechanisms of ageing and development. 2005 Aug;126(8):866-73	1267 HSP70-2 polymorphism as a risk factor for carotid plaque rupture and cerebral ischaemia in old type 2 diabetes-atherosclerotic patients.		191160	26679	2	2005												
136766		leukemia, acute myeloid; longevity; myelodysplasia	CANCER	CAN		6	6p21.3	TNF	31651328	31654091		Poli, F.  et al. 2002	12047360				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		CDC GDPinfo	7124	Hs.241570			European journal of immunogenetics. 2002 Jun;29(3):237-40	Allele frequencies of polymorphisms of TNFA, IL-6, IL-10 and IFNG in an Italian Caucasian population.		191160	26680	2	2002	The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.	Cohort 363 healthy Italian Caucasians 										
136767		diabetes, type 1	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Siekiera, U.  et al. 2002	12818128				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego. 2002 ;8(1):29-34	[Polymorphism of TNF-alpha (308 A/G), IL-10 (1082 A/G, 819 C/T 592 A/C), IL-6 (174 G/C), and IFN-gamma (874 A/T); genetically conditioned cytokine synthesis level in children with diabetes type 1]		191160	26681	2	2002	 It is possible to us molecular method to estimate the genetically controlled immune reactivity. It is a very important immunogenetic factor of the disease predisposition.	Case:36 children with type 1 diabetes;Control:36 healthy individuals										
136761		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091		Craven, N. M.  et al. 2001	11298547				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The British journal of dermatology. 2001 Apr;144(4):849-53	Cytokine gene polymorphisms in psoriasis.		191160	26675	2	2001	 Psoriasis is not determined by a genotype consistent with high production of Th1 cytokines or low production of Th2 cytokines. Thus, the Th1 cytokine profile found in psoriatic plaques is most likely a consequence of local factors.	Control data on file;Case:84 patients with psoriasis										
136762		hepatitis B	INFECTION	INF	Pregnancy Complications, Infectious|Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zhu, Q. R.  et al. 2005	15941525				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):236-9	[Relationship between cytokine gene polymorphism and susceptibility to hepatitis B virus intrauterine infection]		191160	26676	2	2005	 This study suggested the possibility that TNF-alpha-238 A allele and IFN-gamma + 874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4-590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10-1082 G allele seemed to be associated with preventive efficacy to HBV intrauterine infection.											
136764		HIV	INFECTION	INF		6	6p21.3	TNF	31651328	31654091		Smolnikova, M. V.  et al. 2002	12687247				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Russian journal of immunology. 2002 Dec;7(4):349-56	Association of IL2, TNFA, IL4 and IL10 Promoter Gene Polymorphisms with the Rate of Progression of the HIV Infection.		191160	26678	2	2002	The association of T/G IL2, G/A TNFA, T/T IL4, A/A IL10 allelic variants of the immunomodulator genes with a fast rate of HIV infection has been established.	Case:127 HIV-infected patients;Control:52 healthy individuals										
136758		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	TNF	31651328	31654091		Bertolaccini, M. L.  et al. 2001	11246532				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Thrombosis and haemostasis. 2001 Feb;85(2):198-203	Plasma tumor necrosis factor alpha levels and the -238*A promoter polymorphism in patients with antiphospholipid syndrome.		191160	26672	2	2001	 Raised plasma TNFalpha levels were found in patients with APS. As a prothrombotic and proinflammatory cytokine, TNFalpha may be involved in the development of clinical features of APS. The lack of correlation between the TNFA-238 polymorphism and plasma levels associated with disease suggests that the TNF genetic marker may only indirectly relate to protein levels by virtue of allelic association with a functional marker which may reside in the HLA class II region.	Case:83 Caucasoid patients with antiphospholipid syndrome;Control:95 ethnically matched healthy controls										
136759		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Luomala, M.  et al. 2003	14616291				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Acta neurologica Scandinavica. 2003 Dec;108(6):396-400	Promoter polymorphism of IL-10 and severity of multiple sclerosis.		191160	26673	2	2003	Our results suggest that differential production of IL-10 might be a factor in the severity of MS.	Control:109,400:controls;Case:93,116 multiple sclerosis patients										
136760		stomach cancer	CANCER	CAN	Stomach Neoplasms	6	6p21.3	TNF	31651328	31654091		Garza-Gonzalez, E.  et al. 2003	15127646				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Mexican	Mexico	CDC GDPinfo	7124	Hs.241570			Rev Gastroenterol Mex. 2003 Apr-Jun;68(2):107-12	[Role of polymorphism of certain cytokines in gastric cancer in Mexico. Preliminary results]		191160	26674	2	2003	 The results of this preliminary study confirm that the pro-inflammatory IL-1B genotypes, as well as male gender, are risk factors for development of gastric cancer in Mexican population.	Control:25 ethnically matched healthy controls (mean age =:39.9, F/M = 3.12);Case:33 unrleated Mexican patients with histologically confirmed gastric cancer (n = 25) or high-grade dysplasia (n = 8) (mean age 62.7, F/M = 0.37):Mexico										
136755		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fernandez, L.  et al. 2002	12074713				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Spain	CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2002 Mar;59(3):219-22	Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease.		191160	26669	2	2002	Our results indicate that although there is no primary association between MICA polymorphism and CD, there is, in addition to HLA-DQ, a second susceptibility locus on the 8.1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele.											
136756	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression	6	6p21.3	TNF	31651328	31654091		Bittencourt, P. L.  et al. 2003	12911663				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Brazil	CDC GDPinfo	7124	Hs.241570			Journal of gastroenterology and hepatology. 2003 Sep;18(9):1061-6	Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis.		191160	26670	2	2003	 Susceptibility to PBC in Brazil is not associated with HLA-DR and DQ antigens and CTLA-4 genotypes. TNFA alleles were not shown to influence disease progression.	Case primary biliary cirrhosis patients;Control healthy controls										
136757		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Bittencourt, P. L.  et al. 2002	12235090				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Brazil	CDC GDPinfo	7124	Hs.241570			Gut. 2002 Oct;51(4):609-10	Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.		191160	26671	2	2002	In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues.	Case:63 Brazilian patients with primary sclerosing:cholangitis Sao Paulo, Brazil;Control:83 healthy controls										
136752	N	chronic lung disease	UNKNOWN	UNK	Lung Diseases|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Adcock, K.  et al. 2003	12944979				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2003 Sep;4(6):420-6	The TNF-alpha -308, MCP-1 -2518 and TGF-beta1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants.		191160	25702	2	2003	These data suggest that these polymorphisms do not play a significant role in determining risk for CLD in preterm infants, but may play a role in other complications in the neonatal period.	Cohort 178 mechanically ventilated very low birth weight (VLBW) infants 										
136754		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Urcelay, E.  et al. 2005	15842729				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Spanish		CDC GDPinfo	7124	Hs.241570			BMC genomics [electronic resource]. 2005 Apr;6(1):56	Type 1 diabetes in the Spanish population:additional factors to class II HLA-DR3 and -DR4.		191160	26668	2	2005	 Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype.	Case:302 type 1 diabetic patients;Control:529 ethnically matched controls										
136749	N	leukemia, acute myeloid; myelodysplasia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Autoimmune Diseases|Acute Disease	6	6p21.3	TNF	31651328	31654091		Gowans, D.  et al. 2002	12028020				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			British journal of haematology. 2002 Jun;117(3):541-5	Allele and haplotype frequency at human leucocyte antigen class I/II and immunomodulatory cytokine loci in patients with myelodysplasia and acute myeloid leukaemia: in search of an autoimmuneaetiology.		191160	25699	2	2002	We can find no genetic influence for these polymorphisms in HLA class I/II, TNF-alpha/LT-alpha and IL-10 loci on either predisposition or disease progression in MDS/AML.	Control Scottish blood donors, healthy General Practitioner-based subjects, and published haplotype values;Case:150 patients with myelodysplasia and acute myeloid:leukemia										
136750		idiopathic pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Disease Progression|Inflammation	6	6p21.3	TNF	31651328	31654091		Pantelidis, P.  et al. 2001	11371414				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Great Britain	CDC GDPinfo	7124	Hs.241570			American journal of respiratory and critical care medicine. 2001 May;163(6):1432-6	Analysis of tumor necrosis factor-alpha, lymphotoxin-alpha, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis.		191160	25700	2	2001	These findings, if independently confirmed, will be the first to suggest that disease progression in IPF may be linked to a particular genetic marker or to functional polymorphisms in other genes near that marker.	Case Idiopathic pulmonary fibrosis subjects;Control normal control population										
136751		leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fitness, J.  et al. 2002	12486602				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2002 Dec;3(8):441-53	Genetics of susceptibility to leprosy.		191160	25701	2	2002	Review article											
136746	N	erythrocyte catalase activity	OTHER	OTH		6	6p21.3	TNF	31651328	31654091	0.8	Nadif, R.  et al. 2005	16298864	A to G at -308		5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Coal miners		CDC GDPinfo	7124	Hs.241570			Free radical research. 2005 Dec;39(12):1345-50	Association of CAT polymorphisms with catalase activity and exposure to environmental oxidative stimuli.	1800629	191160	25696	2	2005	TNF -308 SNP did not influence catalase activity 		coal mine dust	CAT	C to T at -262					N	N	
136747	Y	myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Nishimura, M.  et al. 2000	11163081				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		191160	25697	2	2000	The results suggest that the TNF/LT-alpha gene region within the HLA class III of chromosome 6 and the TNFR-2 gene region located on chromosome 1p36 might contribute to susceptibility to HAM, and that aberrant expression or function of these cytokines and the receptor could be involved in the development of HAM.	Control:50/112 asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112);Case:51/48 Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell:leukemia/lymphoma (ATL) (n = 48)	human T lymphotropic virus									
136748	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.3	TNF	31651328	31654091		Kamali-Sarvestani, E.  et al. 2005	15890243				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Iranian		CDC GDPinfo	7124	Hs.241570			Cancer letters. 2005 Jun;223(1):113-9	Polymorphism in the genes of alpha and beta tumor necrosis factors (TNF-alpha and TNF-beta) and gamma interferon (IFN-gamma) among Iranian women with breast cancer.		191160	25698	2	2005	There were no differences in the TNF-alpha and TNF-beta alleles and genotypes frequencies between breast cancer patients (n=223) and control subjects (n=267). The correlations between TNFA or TNFB alleles or genotypes and clinicopathological indices were also insignificant. However, the frequency of IFN-gamma+874 T/T genotype was significantly higher in breast cancer patients compared to those of controls (P<0.002; OR=2.03, 95% CI=1.28-3.2) which indicates that Iranian women carrying the IFN-gamma+874 T/T genotype may be exposed to an increased risk of breast cancer development.	Case:223 breast cancer patients:Iran;Control:267:controls										
136743		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16313297				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			International journal of immunogenetics. 2005 Dec;32(6):343-7	Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-alpha) gene polymorphisms and Graves' disease		191160	25693	2	2005												
136744	N	respiratory syncytial virus	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	6	6p21.3	TNF	31651328	31654091		Hoebee, B.  et al. 2004	14722888				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of Promoter Variants of Interleukin-10, Interleukin-9, and Tumor Necrosis Factor-alpha Genes on Respiratory Syncytial Virus Bronchiolitis		191160	25694	2	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus										
136745		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Nishimura, M.  et al. 2003	12559634				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes.		191160	25695	2	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
136740		atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091		Elghannam, H.  et al. 2000	11199329				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		191160	25690	2	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study 	fluvastatin									
136741		bone mass	METABOLIC	MET	Osteoporosis, Postmenopausal|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Fontova, R.  et al. 2002	12240899				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Mediterranean Region	CDC GDPinfo	7124	Hs.241570			Journal of endocrinological investigation. 2002 Sep;25(8):684-90	Bone mineral mass is associated with interleukin 1 receptor autoantigen and TNF-alpha gene polymorphisms in post-menopausal Mediterranean women.		191160	25691	2	2002	We conclude that  both IL-1ra and TNF-alpha can be candidate loci to be studied in the susceptibility to develop post-menopausal osteoporosis.	Case:104 post-menopausal osteoporotic women (58.6+/-4.8 yr);Control:51 post-menopausal women without osteoporosis										
136742		kidney transplant	IMMUNE	IMM	Chronic Disease	6	6p21.3	TNF	31651328	31654091		Pawlik, A.  et al. 2005	15814282				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplant immunology. 2005 Mar;14(1):49-52	The cytokine gene polymorphisms in patients with chronic kidney graft rejection.		191160	25692	2	2005	The results of present study suggest that the genetically determined low IL-6 production may be the risk factor of chronic allograft nephropathy development.	Case:62 patients with chronic allograft nephropathy;Control:64 patients with long-term stable gaft function										
136737		osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6p21.3	TNF	31651328	31654091		Moos, V.  et al. 2000	11083263				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Arthritis and rheumatism. 2000 Nov;43(11):2417-22	Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis.		191160	25687	2	2000	 These results point to an association between the IL-1beta polymorphism and the TNFalpha(high) phenotype and between the IL-1Ra polymorphism and the TNFalpha(low) phenotype found in OA. Both associations suggest that IL-1beta may be more important than TNFalpha for the regulation of cytokine and growth factor expression in articular chondrocytes.	Control:254 randomly chosen controls;Case:61 osteoarthritis patients										
136738	N	meningococcal disease	INFECTION	INF	Meningococcal Infections	6	6p21.3	TNF	31651328	31654091		Read, R. C.  et al. 2000	11023482				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2000 Nov;182(5):1557-60	An interleukin-1 genotype is associated with fatal outcome of meningococcal disease.		191160	25688	2	2000	There was no association between TNF genotype and fatal outcome. These data suggest that IL-1 genotype influences the severity of meningococcal disease.	Cohort 276 white patients 4-70 years of age (median, 17 years) 										
136739	Y	stomach cancer; gastritis	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Machado, J. C.  et al. 2003	12891537				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		191160	25689	2	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:221/287 individuals with chronic gastritis (n=221) and gastric carcinoma patients (n=287)										
136734		malaria; schistosomiasis	INFECTION	INF	Malaria, Cerebral|Schistosomiasis japonica|Liver Cirrhosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hirayama, K.   2002	12509099				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Asia	CDC GDPinfo	7124	Hs.241570			The Korean journal of parasitology. 2002 Dec;40(4):165-72	Genetic factors associated with development of cerebral malaria and fibrotic schistosomiasis.		191160	25684	2	2002	We found no statistically significant associations with class I HLA-A but did find associations with class I HLA-B, which includes alleles associated with seronegativity (B8, B13, and B44) and those associated with seropositivity (B7 and B51). Elucidation of the specific peptide-HLA complex interactions that lead to varying or failed immune responses may provide fertile groundwork for improved vaccines that can overcome limitations of the current live, attenuated measles vaccine.											
136735		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	TNF	31651328	31654091		Rafatpanah, H.  et al. 2003	13679820				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of allergy and clinical immunology. 2003 Sep;112(3):593-8	Association between novel GM-CSF gene polymorphisms and the frequency and severity of atopic dermatitis.		191160	25685	2	2003	 The GM-CSF genotype is an important genetic marker predicting an individual's predisposition to atopic dermatitis.	Case:113 children with atopic dermatitis;Control:114:controls										
136736		thryoiditis, subacute granulomatous	UNKNOWN	UNK	Thyroiditis, Subacute	6	6p21.3	TNF	31651328	31654091		Luotola, K.  et al. 2001	11506478				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			APMIS. 2001 Jun;109(6):454-60	Allele 2 of interleukin-1 receptor antagonist gene increases the risk of thyroid peroxidase antibodies in subacute thyroiditis.		191160	25686	2	2001	This study describes the multiplicity of the mechanisms responsible for the severity of the acute-phase response during the course of SAT. IL-1ra may have a significant anti-inflammatory role in SAT. Presence of IL-1ra allele 2 increases the risk of developing TPOab.	Cohort 48 subjects with subacute granulomatous tryroiditis 										
136731		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Lio, D.  et al. 2005	15979955				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Digestive and liver disease. 2005 Oct;37(10):756-60	TNFalpha, IFNgamma and IL-10 gene polymorphisms in a sample of Sicilian patients with coeliac disease.		191160	25681	2	2005	 Genetically determined higher frequencies of -308A tumour necrosis factor alpha and +874T interferon gamma alleles, both in hetero and in homozygosis and mostly whether simultaneous, may play a role in predisposing to gluten intolerance. Subjects positive for -308A tumour necrosis factor alpha and +874T interferon gamma alleles have an increased risk for coeliac disease.											
136732		celiac disease	IMMUNE	IMM	Celiac Disease|Down Syndrome|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cataldo, F.  et al. 2005	16182624				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Digestive and liver disease. 2005 Dec;37(12):923-7	Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.		191160	25682	2	2005	 Single nucleotide polymorphisms of IFNgamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFalpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.											
136733		hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic|Liver Cirrhosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Mangia, A.  et al. 2004	14698136				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cytokine. 2004 Feb;25(3):103-9	IL-10 haplotypes as possible predictors of spontaneous clearance of HCV infection		191160	25683	2	2004	 Our findings indicate that heterogeneity in the promoter region of the IL-10 gene has a role in determining a spontaneous favourable outcome of HCV infection.	Control:145 controls sharing the same ethnic background;Case:270 hepatitis C patients										
136728	N	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Yoshizawa, K.  et al. 2005	15763345				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			Journal of hepatology. 2005 Apr;42(4):578-84	Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis.		191160	25678	2	2005	 The most influential gene on type 1 AIH pathogenesis in Japanese is the HLA-DRB1. Other genes in the HLA region, including TNF-alpha, have little or no association with type 1 AIH susceptibility.											
136729		pregnancy loss, recurrent	OTHER	OTH	Abortion, Habitual	6	6p21.3	TNF	31651328	31654091		Daher, S.  et al. 2003	12609526				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Brazil	CDC GDPinfo	7124	Hs.241570			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		191160	25679	2	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregnancy loss patients										
136730		kidney transplant	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Tinckam, K.  et al. 2005	15818327				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2005 Apr;79(7):836-41	The relative importance of cytokine gene polymorphisms in the development of early and late acute rejection and six-month renal allograft pathology.		191160	25680	2	2005	 High transforming growth factor-beta1 producer phenotype seems to be protective against acute inflammation, whereas H and I interferon-gamma, TNFalpha, and interleukin-10 producer genotypes correlate with adverse outcomes. Cytokine genotyping identifies individuals who may benefit from more intensive surveillance and treatment posttransplant.	Cohort 118 renal transplant recipients 										
136725		cutaneous neonatal lupus	IMMUNE	IMM	Heart Block|Lupus Erythematosus, Cutaneous	6	6p21.3	TNF	31651328	31654091		Clancy, R. M.  et al. 2004	15334474				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Arthritis and rheumatism. 2004 Aug;50(8):2598-603	Genetic association of cutaneous neonatal lupus with HLA class II and tumor necrosis factor alpha:Implications for pathogenesis		191160	25675	2	2004	 Taken together, the finding of a genetic predisposition to generate increased levels of TNFalpha following tissue injury and the histologic demonstration of TNFalpha in the target organ support the notion that this inflammatory cytokine plays a role in the pathogenesis of cutaneous neonatal lupus. Furthermore, the results of these studies provide evidence of a biologic link between neonatal lupus and the rash of SCLE.	Cohort 83/58 children (22 with rash, 35 with congenital heart block [CHB], 26 unaffected siblings) and 58 mothers from the Research Registry for Neonatal Lupus 										
136726		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance|Metabolic Syndrome X|Obesity	6	6p21.3	TNF	31651328	31654091		Giger, J. N.  et al. 2005	15825968				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Alabama|Georgia	CDC GDPinfo	7124	Hs.241570			Ethnicity & disease. 2005 ;15(2):221-32	Genetic predictors of coronary heart disease risk factors in premenopausal African-American women.		191160	25676	2	2005	 The association of APOE, DRB1, D6589 and TNFa alleles with risk of CHD suggest that these are candidate genes or linked to genes for CHD in this cohort of AAW. Our data supported elevated plasma Lp(a) as a potential risk factor in AAW; however, its role is still unclear. The premenopausal AAW in this sample had a higher than expected rate of metabolic syndrome, which was associated with DRB1 alleles.	Control:117 African-American premenopausal community and military subjects who were at low risk for coronary heart disease;Case:173 African-American premenopausal community and military subjects who were at high risk for coronary heart disease										
136727		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hohjoh, H.  et al. 2001	11285131				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2001 Mar;57(3):230-5	Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.		191160	25677	2	2001	Results agreed with the negative association of DRB1*1502 and positive association of the TNF-alpha(-857T) and TNFR2-196R combination with the disorder. In addition, a significant association of the TNF-alpha(-857T) homozygote with the disorder and an increase in a rare haplotype carrying DRB1*1501 and TNF-alpha(-857T) in the patients were also observed in the present study.	Case narcoleptic patients;Control healthy individuals										
136722		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zanelli, E.  et al. 2001	11165717				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human immunology. 2001 Jan;62(1):75-84	The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci.		191160	25672	2	2001	We conclude that  the telomeric part of the HLA region contains a locus conferring predisposition to RA independently of HLA class II.	Case:132 rhematoid arthritis patients;Control:254:controls										
136723		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Vatay, A.  et al. 2002	12270547				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Immunology letters. 2002 Nov;84(2):109-115	Differences in the genetic background of latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus.		191160	25673	2	2002	 Our findings indicate that there are marked differences in the genetic background of type 1 diabetes and LADA. The low presence of TNF2 allele (known to be associated with high amount of TNF alpha production) in LADA could be one of the factors responsible for the relatively slow progression.	Control:336/138 cadaver kidney donors (n=336) and volunteers:(n=138);Case:69/42 type 1 diabetic (n=69) and Latent Autoimmune Diabetes in Adults (n=42) patients										
136724		leptospirosis	INFECTION	INF	Leptospirosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Lingappa, J.  et al. 2004	15014429				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2004 May;5(3):197-202	HLA-DQ6 and ingestion of contaminated water:possible gene-environment interaction in an outbreak of Leptospirosis.		191160	25674	2	2004	Based on these preliminary findings, we hypothesize a role for superantigens in leptospirosis and underscore the importance of outbreak investigations for understanding infectious disease gene-environment interactions.	Cohort 85 triathletes in a lake swim during a 1998 leptospirosis outbreak investigation 	leptospirosis									
136719		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Izawa, H.  et al. 2003	12654703				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		CDC GDPinfo	7124	Hs.241570			Hypertension. 2003 May;41(5):1035-40	Prediction of genetic risk for hypertension.		191160	25669	2	2003	These results suggest that 2 and 1 genes may be susceptibility loci for hypertension in Japanese men and women, respectively, and that genotyping of these polymorphisms may prove informative for prediction of the genetic risk for hypertension.	Case:1067 unrelated Japanese subjects with hypertension;Control:873:controls										
136720		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TNF	31651328	31654091		Rodriguez-Carreon, A. A.  et al. 2005	15725578				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Mexican		CDC GDPinfo	7124	Hs.241570			Journal of autoimmunity. 2005 Feb;24(1):63-8	Tumor necrosis factor-alpha -308 promoter polymorphism contributes independently to HLA alleles in the severity of rheumatoid arthritis in Mexicans.		191160	25670	2	2005	The data demonstrate that -308 T2 (A) allele is associated with susceptibility to develop severe RA in Mexicans. This association could be independent from HLA-DR alleles and might be used as a prognostic marker for severe RA.	Case:137 Mexican rheumatoid arthritis patients;Control:169 healthy controls										
136721	Y	Carbamazepine hypersensitivity	UNKNOWN	UNK	Drug Hypersensitivity	6	6p21.3	TNF	31651328	31654091		Pirmohamed, M.  et al. 2001	11294926				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Neurology. 2001 Apr;56(7):890-6	TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients.		191160	25671	2	2001	 The TNF2 allele was associated with severe, but not nonserious, carbamazepine hypersensitivity reactions, suggesting that hypersecretion of tumor necrosis factor alpha may be a determinant of the severity of tissue damage. However, the association of the TNF2 allele with carbamazepine hypersensitivity was not independent of HLA-DR3 and -DQ2, and therefore the possibility that it constitutes a passive component of the TNF2-DR3-DQ2 haplotype cannot be excluded.	Case:23 serious carbamazepine-hypersensitive reactive:subjects;Control:313 controls(63 patients on carbamazepine without adverse effects and 250 healthy volunteers);Case:37 nonserious carbamazepine-hypersensitive reactive:subjects	carbamazepine									
136716		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	TNF	31651328	31654091		Zhang, P.  et al. 2004	15468911				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Yi chuan xue bao. 2004 Jan;31(1):6-Jan	Neither the tumor necrosis factor alpha-308 A/G polymorphism nor the alpha2-macroglobulin polymorphism was associated with late-onset Alzheimer's disease in the Chinese population.		191160	25665	2	2004	Our data showed that the APOE epsilon4 allele frequency in AD was significantly higher than that in the normal controls (chi2 = 11.66, P < 0.01) neither the frequencies of genotypes nor alleles of the TNF alpha-308 A/G and A2M polymorphisms were significantly different between AD and controls,suggesting the two polymorphisms were not risk factors to LOAD in Chinese.	Control:142 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients										
136717		lipid metabolism disorders; hyperlipidemia	METABOLIC	MET	HIV Infections|Hypertriglyceridemia	6	6p21.3	TNF	31651328	31654091		Tarr, P. E.  et al. 2005	15809899				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Switzerland	CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2005 May;191(9):1419-26	Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders.		191160	25666	2	2005	 Variant alleles of APOE and APOC3 contribute to an unfavorable lipid profile in patients with HIV. Interactions between genotypes and ART can lead to severe hyperlipidemia. Genetic analysis may identify patients at high risk for severe ritonavir-associated hypertriglyceridemia.	Cohort 329 antiretroviral therapy-treated HIV patients 	antiretroviral									
136718		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Arnaiz, N. O.  et al. 2003	14655898				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Washington	CDC GDPinfo	7124	Hs.241570			Archives of environmental health. 2003 Apr;58(4):197-200	Genetic factors and asthma in aluminum smelter workers		191160	25668	2	2003	The asthma-like condition associated with potroom work remains poorly understood. Future investigations of genetic susceptibility and occupational asthma may provide pathophysiologic insights into these work-related conditions, but larger numbers of subjects will be required.	Control smelter potroom workers who didn't develop respiratory problems;Case smelter potroom workers who developed asthma-like:conditions										
136713		obesity	METABOLIC	MET	Obesity	6	6p21.3	TNF	31651328	31654091		Chouchane, L.  et al. 2001	11319647				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Tunisian		CDC GDPinfo	7124	Hs.241570			International journal of obesity and related metabolic disorders. 2001 Apr;25(4):462-6	Genetic variation in the stress protein hsp70-2 gene is highly associated with obesity.		191160	23734	2	2001	 Tunisian persons carrying the P2/P2 genotype of the hsp70-2 gene may have an increased risk of obesity.	Control:174 healthy control subjects;Case:343 patients with obesity										
136714		retinopathy of prematurity	UNKNOWN	UNK	Retinopathy of Prematurity	6	6p21.3	TNF	31651328	31654091		Cooke, R. W.  et al. 2004	15161830				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Investigative ophthalmology & visual science. 2004 Jun;45(6):1712-5	Genetic polymorphisms and retinopathy of prematurity		191160	23735	2	2004	 The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF.	Case:91 infants who had received treatment for threshold retinopathy of prematurity;Control:97 comparison infants										
136715	N	TNF-alpha	IMMUNE	IMM	Endotoxemia	6	6p21.3	TNF	31651328	31654091		Schippers, E. F.  et al. 2004	15016407				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cytokine. 2004 Apr;26(1):16-24	TNF-alpha promoter, Nod2 and toll-like receptor-4 polymorphisms and the in vivo and ex vivo response to endotoxin.		191160	23736	2	2004	Our results indicate that polymorphisms in the TLR4 receptor, Nod2 and TNF-alpha promoter region are not strongly associated with in vivo and ex vivo TNF-alpha production capacity upon endotoxin stimulation. This suggests that in this model of natural LPS release, the variation between individuals in TNF-alpha release can only modestly be determined by genetic background (TNF-alpha promoter, Nod2 and TLR4) of the individual.	Cohort patients ith endotoxemia 	endotoxin									
136710		amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Yilmaz, E.  et al. 2003	14696796				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Turkish journal of pediatrics. 2003 Jul-Sep;45(3):198-202	Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients		191160	23731	2	2003	Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis.	Control:100 heealthy controls;Case:73/100 familial Mediterranean fever (n=73) and amyloidosis:(n=100) patients										
136711		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	6	6p21.3	TNF	31651328	31654091		Calhoun, E. S.  et al. 2002	12142377				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinical chemistry. 2002 Aug;48(8):1218-24	Host genetic polymorphism analysis in cervical cancer.		191160	23732	2	2002	 We identified host genetic polymorphisms that may be associated with cervical cancer risk, some of which have been linked to potential functional effects on cellular immune responses or antigen processing. We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. Although our findings support the general hypothesis that host immunogenetic determinants other than class II MHC may be important in the development of cervical cancer, further analysis of the HLA gene cluster comprising the implicated TNFalpha single-nucleotide polymorphisms will be required to determine whether their association is linkage independent.	Control:108 female blood donors;Case:127 cervical cancer patients										
136712		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	TNF	31651328	31654091		Pae, C. U.  et al. 2005	16252073				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			J Neural Transm. 2005	Interaction analysis between 5-HTTLPR and TNFA -238/-308 polymorphisms in schizophrenia.		191160	23733	2	2005			antipsychotic drug family history									
136707	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	6	6p21.3	TNF	31651328	31654091		Buraczynska, K.  et al. 2003	15068388				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Molecular diagnosis. 2003 ;7(4-Mar):175-80	Polymorphisms of tumor necrosis factor and myeloperoxidase genes in patients with chronic renal failure on peritoneal dialysis.		191160	23728	2	2003	 Our studies show that the TNF and MPO genes may play a role in chronic renal failure. The relationship observed between polymorphisms of the TNF and MPO genes and chronic renal failure may depend on the pathophysiological changes in different diseases underlying renal failure.	Control:115 healthy individuals;Case:95 patients with chronic renal failure										
136708		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State	6	6p21.3	TNF	31651328	31654091		Wanic, K.  et al. 2002	12715715				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Polish	Poland	CDC GDPinfo	7124	Hs.241570			Przegl Lek. 2002 ;59(11):888-91	[TNF-alpha PC-1 gene polymorphisms and pre-diabetes quantitative features in the Polish population]		191160	23729	2	2002	 Our study suggests that both examined polymorphisms: the -308 G/A in the promoter region of TNF-alpha and K121Q amino acid variant of the PC-1; influence the development of insulin resistance as a prediabetic quantitative trait in a Polish population.	Cohort 60 individuals Poland 										
136709		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	6	6p21.3	TNF	31651328	31654091		Lucarelli, P.  et al. 2004	15308304				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Neuroscience letters. 2004 Aug;367(1):88-91	Association between presenilin-1 -48C/T polymorphism and Down's syndrome.		191160	23730	2	2004	The association found suggests that the -48C/T polymorphism in the PSN1 gene promoter, which is involved in the modulation of amyloid beta load in human AD, is associated with DS. However, the biological role of this polymorphism in DS-related dementia remains unclear and merits further investigation.	Control:197:controls;Case:260 Down syndrome patients:Italy										
136704	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Ferrarotti, I.  et al. 2003	12661999				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The European respiratory journal. 2003 Mar;21(3):444-9	Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.		191160	23725	2	2003	No significant deviations were found concerning the four polymorphisms studied between the two populations. The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease.	Case:63 chronic obstructive pulmonary disease patients;Control:86 healthy smokers										
136705		uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	6	6p21.3	TNF	31651328	31654091		Kuo, N. W.  et al. 2005	15851552				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Investigative ophthalmology & visual science. 2005 May;46(5):1565-71	TNF-857T, a genetic risk marker for acute anterior uveitis.		191160	23726	2	2005	 A significant difference in the frequency of TNF-857T allele was found in patients with IAU. There was a trend toward the development of inflammation-related complications in HLA-B27(+) patients with IAU who were carriers of TNFRSF1A-201T or TNFRSF1A-1135T alleles. Genetic variations in these proinflammatory mediators and their receptors appear to influence the susceptibility and severity of the inflammatory response within the eyes of patients during the development of IAU.	Control:controls;Case:98 white patients with acute anterior uveitis:UK										
136706		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	6	6p21.3	TNF	31651328	31654091		Lee, E. Y.  et al. 2001	11748357				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of Korean medical science. 2001 Dec;16(6):751-5	Is tumor necrosis factor genotype (TNFA2/TNFA2)a genetic prognostic factor of an unfavorable outcome in IgA nephropathy?		191160	23727	2	2001	Clinical factors such as serum creatinine, systolic and diastolic blood pressure were higher and pathologic factor such as Grade IV or V renal lesions was more prevalent in the progressor than in the non-progressor group. Therefore, TNFA2/TNFA2 genotype may be a risk factor for the progression of IgAN.	Cohort 76 patients with primary IgAn confirmed by renal biopsy 										
136701	Y	chronic obstructive pulmonary disease/COPD; bronchiectatic disease	IMMUNE	IMM	Bronchiectasis|Pulmonary Disease, Chronic Obstructive	6	6p21.3	TNF	31651328	31654091			15174288				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genetika. 2004 Apr;40(4):545-51	[Allelic variants of the tumor necrosis factor superfamily as markers of the severity of the course of chronic obstructive lung disease and bronchiectatic disease]		191160	23722	2	2004	Thus, we have shown for the first time ever that LTA gene alleles and their combinations with the polymorphic variants of the TNFA gene are associated with predisposition to COPD and severity of this disease.	Control:169 healthy individuals;Case:172/22 patients with chronic obstructive pulmonary disease (n=172) and with bronchiectatic disease (n=22)										
136702		cytokine response	UNKNOWN	UNK		6	6p21.3	TNF	31651328	31654091		Majetschak, M.  et al. 2005	15699425				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinical and diagnostic laboratory immunology. 2005 Feb;12(2):296-303	Alterations in leukocyte function following surgical trauma: differentiation of distinctreaction types and association with tumor necrosis factor gene polymorphisms.		191160	23723	2	2005	TNF gene polymorphisms were associated with changes in TNF-alpha production but do not explain the overall reaction patterns of cytokine production after trauma. The clinical correlate of these newly defined reaction types remains to be determined.	Cohort 48 patients undergoing joint replacement 										
136703	Y	cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis	6	6p21.3	TNF	31651328	31654091		Yee, L. J.  et al. 2000	11196686				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2000 Aug;1(6):386-90	Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection		191160	23724	2	2000	Polymorphisms in the TNF alpha promoter appear to be associated with variability in the histological severity of chronic hepatitis C infection.	Control:114 HCV-infected patients histopathologically free of:cirrhosis;Case:30 Caucasians with cirrhosis due to chronic HCV:infection	hepatitis C									
136697		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	TNF	31651328	31654091		Xu, X. W.  et al. 2005	15649304				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinical microbiology and infection. 2005 Jan;11(1):52-6	Association between tumour necrosis factor gene polymorphisms and the clinical types of patients with chronic hepatitis B virus infection.		191160	23718	2	2005	It was concluded that TNF-alpha gene polymorphisms may play an important role as a host factor in the progression of HBV infection.	Case:71 patients who either had chronic mild HBV infection or who were asymptomatic carriers;Control:90 healthy controls										
136698		respiratory distress syndrome, acute	UNKNOWN	UNK	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gong, M. N.  et al. 2005	16135717				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The European respiratory journal. 2005 Sep;26(3):382-9	-308GA and TNFB polymorphisms in acute respiratory distress syndrome.		191160	23719	2	2005												
136699		esophageal cancer; gastric cardia adenocarcinoma	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16313841				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Chinese medical journal. 2005 Nov;118(22):1870-8	[Polymorphisms in tumor necrosis factor genes and susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in a population of high incidence region of North China.]		191160	23720	2	2005	 Therefore, the TNF-alpha-308G/A and TNF-beta+252G/A genotyping may be used as a stratification markers to predicate the risk of ESCC and GCA development in North China.											
136694		Alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Aguillon, J. C.  et al. 2002	12434654				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Rev Med Chil. 2002 Sep;130(9):1043-50	[Tumor necrosis factor alpha genetic polymorphism as a risk factor for disease]		191160	23715	2	2002	Review article											
136695		palmoplantar pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hashigucci, K.  et al. 2003	12691703				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		CDC GDPinfo	7124	Hs.241570			Human immunology. 2003 May;64(5):530-7	A clinical feature associated with polymorphisms of the TNF region in Japanese patients with palmoplantar pustulosis.		191160	23716	2	2003	These results indicate that detection of polymorphisms at the TNF locus may be a marker for determination of the heterogeneity of the disease, and that the allelic variation may influence the susceptibility.	Control:controls;Case:78 provocation positive (n=38) and provocation negative (n=40) palmoplantar pustulosis patients										
136696	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute	6	6p21.3	TNF	31651328	31654091		Zhao, H. Y.  et al. 2003	12917036				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Ai zheng. 2003 Aug;22(8):861-6	[Relationship between Tumor Necrosis Factor Genetic Polymorphisms and Acute Lymphocytic Leukemia]		191160	23717	2	2003	 These data suggest that genetic polymorphisms in the TNFalpha(-308) and LTalpha(+252) are not crucial in the pathogenesis, clinical course, and outcome of ALL patients.	Case:29 Chinese patients with acute lymphocytic leukemia;Control:72 normal controls										
136691	N	polycystic ovarian syndrome; glucose metabolism	METABOLIC	MET	Polycystic Ovary Syndrome	6	6p21.3	TNF	31651328	31654091		Mao, W.  et al. 2000	11775944				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua fu chan ke za zhi. 2000 Sep;35(9):536-9	[Study on the relationship between a polymorphism of tumor necrosis factor-alpha gene and the pathogenesis of polycystic ovary syndrome]		191160	23712	2	2000	 There is no association between TNF-alpha gene -308 bp polymorphism and the pathogenesis of polycystic ovary syndrome, but PCOS patients with TNF2 genotype may associate with improvement to certain degree on abnormal glucose tolerance usually existed in obese PCOS women.	Case:118 Chinese women with plolycystic ovary syndrome (44 were obese, and 74 nonobese);Control:54:controls										
136692		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis	6	6p21.3	TNF	31651328	31654091		Chiu, C. J.  et al. 2001	11808761				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Taiwan	CDC GDPinfo	7124	Hs.241570			Journal of dental research. 2001 Dec;80(12):2055-9	Association between genetic polymorphism of tumor necrosis factor-alpha and risk of oral submucous fibrosis, a pre-cancerous condition of oral cancer.		191160	23713	2	2001	The finding may imply a multifunctional etiological factor of TNF-alpha in OSF pathogenesis.	Case:166 oral submucous fibrosis subjects;Control:284 areca-chewing controls										
136693	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	TNF	31651328	31654091		Alvarez, V.  et al. 2002	12116197				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of medical genetics. 2002 Jul;114(5):574-7	Association between the TNFalpha-308 A/G polymorphism and the onset-age of Alzheimer disease.		191160	23714	2	2002	Our data suggest an effect of the TNFalpha-308 polymorphism on the age at onset of late AD. This represents additional evidence of the importance of genetic variation at the proinflammatory components in the origin and progression of this common NEUROLOGICALenerative disease.	Case:315 late-onset Alzheimer's disease patients;Control:400 healthy controls										
136688		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Donati, M.  et al. 2005	15842262				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Swedish	Sweden	CDC GDPinfo	7124	Hs.241570			Journal of clinical periodontology. 2005 May;32(5):474-9	Association of the -159 CD14 gene polymorphism and lack of association of the -308 TNFA and Q551R IL-4RA polymorphisms with severe chronic periodontitis in Swedish Caucasians.		191160	23709	2	2005	 It is suggested that the -159 CD14 gene polymorphism is associated with chronic periodontitis in Caucasian subjects of a north European origin.	Control:39 patients (aged 36-74 years; mean 54.5+/-8.5) with severe and generalized chronic periodontitis;Case:60 patients (aged 36-74 years; mean 54.5+/-8.5) with severe and generalized chronic periodontitis										
136689		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6p21.3	TNF	31651328	31654091		Kruger, R.  et al. 2000	11072751				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Germany	CDC GDPinfo	7124	Hs.241570			J Neural Transm. 2000 ;107(5):553-62	Genetic analysis of immunomodulating factors in sporadic Parkinson's disease		191160	23710	2	2000	suggested involvement of immunomodulating factors in the pathogenesis of sporadic PD as revealed by a molecular genetic approach.	Control:183 age and sex matched healthy controls:Germany;Case:264 sporadic PD patients:Germany										
136690	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		6	6p21.3	TNF	31651328	31654091		Gonzalez-Quintela, A.  et al. 2004	15902922				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Alcohol (Fayetteville, NY). 2004 Oct-Nov;34(3-Feb):273-7	Relation of tumor necrosis factor (TNF) gene polymorphisms with serum concentrations and in vitro production of TNF-alpha and interleukin-8 in heavy drinkers.		191160	23711	2	2004	In comparison with findings for control subjects, heavy drinkers showed higher TNF-alpha production, higher IL-8 production, and higher serum IL-8 concentrations. Increased serum TNF-alpha concentrations were specifically found in heavy drinkers with the -857 (C-->T) substitution (CT heterozygotes), therefore indicating an interaction between alcohol consumption and that polymorphism on serum TNF-alpha concentrations.	Control:14 healthy controls;Case:19 heavy drinkers										
136685		lymphoma	CANCER	CAN	Lymphoma|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone	6	6p21.3	TNF	31651328	31654091		Wu, M. S.  et al. 2004	15146559				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			International journal of cancer. Journal international du cancer. 2004 Jul;110(5):695-700	Promoter polymorphisms of tumor necrosis factor-alpha are associated with risk of gastric mucosa-associated lymphoid tissue lymphoma.		191160	23706	2	2004	We concluded that TNF-alpha -857 T itself or a neighboring gene may modify the risk of maltoma. The differences in genetic background as well as divergent clinicopathologic features between GAC and maltoma support the notion that fundamental mechanistic differences exist in these 2 well-defined H. pylori-related malignancies.	Control:210 unrelated healthy controls;Case:70/204 patients with maltoma (n=70) and patients with noncardia GAC (n=204)										
136686		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Glas, J.  et al. 2004	15570075				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of clinical oncology. 2004 Dec;22(23):4746-52	Allele 2 of the interleukin-1 receptor antagonist gene is associated with early gastric cancer.		191160	23707	2	2004	 The genotype IL-1RN*2/2 seems to be associated with early-stage gastric cancer. As opposed to advanced-stage gastric cancer, further proinflammatory cytokine polymorphisms were not associated independently, but might act in combination and mirror early steps of gastric carcinogenesis in hosts colonized by Helicobacter pylori. However, these findings await confirmation in future trials and should be underscored by gene expression studies.	Control:145:controls;Case:88 patients with early-stage gastric cancer (stage T1, 77 positive for Helicobacter pylori)	Helicobacter pylori									
136687		kidney transplant	IMMUNE	IMM	Acute Disease	6	6p21.3	TNF	31651328	31654091		Pawlik, A.  et al. 2005	15964333				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation proceedings. 2005 Jun;37(5):2041-3	IL-2 and TNF-alpha promoter polymorphisms in patients with acute kidney graft rejection.		191160	23708	2	2005	 The results suggest that TNF-alpha-308 promoter polymorphism is a risk factor for acute kidney allograft rejection.											
136682		autoimmune hepatitis	IMMUNE	IMM	Hepatitis, Autoimmune	6	6p21.3	TNF	31651328	31654091		Ma, X.  et al. 2004	15161508				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Zhonghua gan zang bing za zhi. 2004 May;12(5):296-8	[Cytokine gene polymorphisms in Chinese patients with type I autoimmune hepatitis]		191160	23703	2	2004	 Genotypes associated with guanine to adenine substitution at position -308 of TNF-alpha promoter gene (TNF-308A) may involve in the pathogenesis of type I AIH	Case:32 Chinese type I autoimmune hepatitis;Control:48 healthy controls										
136683	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	6	6p21.3	TNF	31651328	31654091		Jiang, L.  et al. 2005	15820084				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese	China	CDC GDPinfo	7124	Hs.241570			Chinese medical journal. 2005 Apr;118(7):541-7	Association of gene polymorphisms of tumour necrosis factor-alpha and interleukin-13 with chronic obstructive pulmonary disease in Han nationality in Beijing.		191160	23704	2	2005	 There is no significant difference in the frequencies of the TT genotype of IL-13-1055 or the A allele of the TNF-alpha between Han Chinese patients with COPD versus control. Thus, it does not appear that these SNPs are independent factors in COPD for Han nationality in Beijing. However, these SNPs may increase the risk of COPD among smokers.	Case:111 chronic obstructive pulmonary disease patients:Beijing;Control:97 age matched controls	smoking (tobacco)									
136684	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	6	6p21.3	TNF	31651328	31654091		Lin, L.  et al. 2003	14966591				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Shanghai kou qiang yi xue. 2003 Dec;12(6):456-9	[Study on the Correlation of Cytokine Gene Polymorphism with Chronic Periodontitis]		191160	23705	2	2003	 IL-1B +3953 and TNF-A-308 allele 2 positive genotype have closer correlation with moderate-to-advanced AP.	Control:controls;Case patients with moderate to advanced adult:periodontitis										
136679		HIV	INFECTION	INF	HIV Infections|Disease Progression	6	6p21.3	TNF	31651328	31654091		An, P.  et al. 2003	12854077				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of infectious diseases. 2003 Jul;188(2):228-31	A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.		191160	23700	2	2003	It is possible that increased IFN-gamma production induced by TNF-alpha when -179T is present causes CD4 cell depletion by apoptosis.	Cohort 298 African American human immunodeficiency virus (HIV)-1 seroconverters 										
136680	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kim, T. H.  et al. 2003	14646574				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Korean		CDC GDPinfo	7124	Hs.241570			The Korean journal of gastroenterology. 2003 Nov;42(5):377-86	[Tumor necrosis factor-alpha and interleukin-10 gene polymorphisms in Korean patients with inflammatory bowel disease]		191160	23701	2	2003	 The TNF-alpha gene polymorphisms at positions -308 and -238 may have influences on the susceptibility to CD or the behavior of CD.	Control:200 healthy controls;Case:91/63 ulcerative colitis (n=91) and Crohn's disease:(n=63) patients										
136681	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	6	6p21.3	TNF	31651328	31654091		Yang, J.  et al. 2003	14744383				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Aug;41(8):598-602	[The correlation between Kawasaki disease and polymorphisms of Tumor necrosis factor alpha and interleukin-10 gene promoter]		191160	23702	2	2003	 The genotype of TNF-alpha-308A is one of the important factors that probably influence the therapeutic effect of KD. The haplotypes (-1082/-819/-592) of IL-10 gene promoter might be related to the pathogenesis of coronary artery complication of KD and -1082A/-819T/-592A haplotypes might be regarded as a genetic marker of risk factor for coronary artery lesion in KD.	Control:160 age-matched normal children of the Han nationality;Case:96 children with Kawasaki disease										
136676	Y	preterm delivery	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kalish, R. B.  et al. 2004	15507967				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of obstetrics and gynecology. 2004 Oct;191(4):1368-74	Polymorphisms in the tumor necrosis factor-alpha gene at position -308 and the inducible 70 kd heat shock protein gene at position +1267 in multifetal pregnancies and preterm premature rupture of fetal membranes.		191160	23697	2	2004	 Tumor necrosis factor-alpha allele 2 and/or heat shock protein-70 allele 2 carriage by the first-born fetus is associated with preterm premature rupture of membranes in multifetal pregnancies.	Cohort 101 mother-neonate pairs of multifetal pregnancies 										
136677		Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	TNF	31651328	31654091		Yacyshyn, B. R.  et al. 2005	15958080				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinical and experimental immunology. 2005 Jul;141(1):141-7	Gene polymorphisms and serological markers of patients with active Crohn's disease in a clinical trial of antisense to ICAM-1.		191160	23698	2	2005			Alicaforsen									
136678		oral lichen planus	INFECTION	INF	Lichen Planus, Oral|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Carrozzo, M.  et al. 2004	14962095				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of investigative dermatology. 2004 Jan;122(1):87-94	Tumor necrosis factor-alpha and interferon-gamma polymorphisms contribute to susceptibility to oral lichen planus		191160	23699	2	2004	In conclusion, we suggest that genetic polymorphism of the first intron of the promoter gene of IFN-gamma may be an important risk factor to develop oral lesions of LP, whereas an increase in the frequency of -308A TNF-alpha allele may best contribute to the development of additional skin involvement.	Case oral lichen planus patients;Control:controls										
136673		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Jalbout, M.  et al. 2003	12691826				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Tunisian		CDC GDPinfo	7124	Hs.241570			Cancer letters. 2003 Apr;193(1):75-81	Polymorphism of the stress protein HSP70-2 gene is associated with the susceptibility to the nasopharyngeal carcinoma.		191160	23694	2	2003	The P2/P2 genotype of the HSP70-2 gene may be a marker of increased risk of NPC in Tunisians.	Case:140 Tunisian patients with primary nasopharyngeal:cancer;Control:174 healthy control subjects										
136674		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease|Body Weight	6	6p21.3	TNF	31651328	31654091		Zouari Bouassida, K.  et al. 2004	15223990				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Tunisian	Tunisia	CDC GDPinfo	7124	Hs.241570			Diabetes & metabolism. 2004 Apr;30(2):175-80	Polymorphism of stress protein HSP70-2 gene in Tunisians: susceptibility implications in type 2diabetes and obesity.		191160	23695	2	2004	 These results along with those showing high frequency of P2-HSP70-2 genotype in obese Tunisians, suggest that HSP70-2 polymorphism has susceptibility implications in both obesity and diabetes.	Control:274 healthy controls;Case:280 Tunisian patients with obesity:Tunisia										
136675	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Balog, A.  et al. 2005	15714129				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Pancreas. 2005 Mar;30(2):e46-50	Polymorphism of the TNF-alpha, HSP70-2, and CD14 genes increases susceptibility to severe acute pancreatitis.		191160	23696	2	2005	 High frequencies of the HSP70-2 G and the TNF-alpha -308 A alleles were associated with risk of severe acute pancreatitis. Genotype assessments may be important prognostic tools to predict disease severity and the course of acute pancreatitis. Therefore, genotype assessments may also be used to guide treatment or to identify risk populations for severe acute pancreatitis.	Control:71 healthy blood donors;Case:77 patients with acute pancreatitis										
136670	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Teramoto, M.  et al. 2004	15212671				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of reproductive immunology (New York, NY :  1989). 2004 May;51(5):352-7	Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility.		191160	23691	2	2004	 Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.	Case:123 patients with endometriosis;Control:165 fertile healthy women										
136671		insulin; diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Li, H.  et al. 2003	12788886				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2767-74	A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A polymorphism predisposes to an insulin-deficient phenotype in patients with type 2 diabetes.		191160	23692	2	2003	In conclusion, TNFalpha is unlikely to be the second gene in the HLA area responsible for our previous findings in type 1/2 patients. However, we could show an association between TNFalpha(308) polymorphism and the phenotype of common type 2 diabetes.	Case type 2 diabetic patients from mixed type 1/2 families or common type 2 diabetic families;Case:126 patients with adult onset type 1 diabetes;Control:284:controls										
136672	Y	Alzheimer's disease; dementia	NEUROLOGICAL	NEUR	Dementia|Disease Progression	6	6p21.3	TNF	31651328	31654091		Fung, H. C.  et al. 2005	15832029				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Taiwanese	Taiwan	CDC GDPinfo	7124	Hs.241570			Dementia and geriatric cognitive disorders. 2005 ;20(1):7-Jan	Heat shock protein 70 and tumor necrosis factor alpha in Taiwanese patients with dementia.		191160	23693	2	2005	Our results suggest a potential protective role for HSP70 in both VaD and AD, whereas TNF-alpha may act as a risk factor only for VaD, and not for AD.	Control:109 ethnically matched nondemented controls;Case:125/57 Alzheimer's disease patients (n=125) and vascular dementia patients (n=57)										
136667	N	oral cancer	CANCER	CAN	Mouth Neoplasms	6	6p21.3	TNF	31651328	31654091		Chen, W. C.  et al. 2005	15799583				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese	China|Taiwan	CDC GDPinfo	7124	Hs.241570			Acta oto-laryngologica. 2005 Jan;125(1):96-9	CYP17 and tumor necrosis factor-alpha gene polymorphisms are associated with risk of oral cancer in Chinese patients in Taiwan.		191160	23688	2	2005	 Patients who carry the T/T homozygote of CYP17 C/T gene polymorphism may have a higher risk of developing oral cancer. OBJECTIVE: Cancer of the oral cavity is the most commonly seen malignancy in Taiwan, and its rising incidence poses a formidable challenge to oncologists. The CYP17 gene encodes P450c17alpha, an enzyme involved in the metabolism of steroid hormones. Tumor necrosis factor-alpha (TNF-alpha) is one of the cytokines produced by macrophages, and its function has been postulated to play a role in cancer formation. We investigated whether polymorphisms of CYP17 and TNF-alpha genes are associated with oral cancer. MATERIAL AND METHODS: Polymorphisms of CYP17 and TNF-alpha genes were detected by polymerase chain reaction-based restriction analysis in 137 patients with oral cancer and 102 normal controls. RESULTS: The results for the CYP17 gene revealed a significant difference between oral cancer patients and normal controls (p =0.0063), but there was no significant difference for the TNF-alpha gene (p =0.4753).	Control:102 normal controls;Case:137 oral cancer patients										
136668	Y	hypertension; cirrhosis	CARDIOVASCULAR	CARD	Hepatitis B, Chronic|Hypertension, Portal|Liver Cirrhosis	6	6p21.3	TNF	31651328	31654091		Cheng, Y. Q.  et al. 2004	15623376				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua gan zang bing za zhi. 2004 Nov;12(11):669-72	[Relationship of endothelin-1 (ET-1) TaqI and tumor necrosis factor (TNF) a gene polymorphism with portal hypertension in liver cirrhosis.]		191160	23689	2	2004	 ET-1 TaqI polymorphism and TNFa polymorphism are associated with portal hypertension, and are new risk factors for the occurrence of portal hypertension. TCF2 genotype may be a susceptible gene of portal hypertension.	Case:106 patients with liver cirrhosis following HBV C:infection;Control:108:controls										
136669		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|alpha-Thalassemia|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Ubalee, R.  et al. 2005	15941417				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Melanesia	CDC GDPinfo	7124	Hs.241570			Tropical medicine & international health. 2005 Jun;10(6):544-9	Associations between frequencies of a susceptible TNF-alpha promoter allele and protective alpha-thalassaemias and malaria parasite incidence in Vanuatu.		191160	23690	2	2005												
136664		arthritis; spondyloarthropathies	IMMUNE	IMM	Arthritis, Reactive|Spondylarthropathies|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Repo, H.  et al. 2002	12492251				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Scandinavian journal of rheumatology. 2002 ;31(6):355-61	CD14 and TNfa promoter polymorphisms in patients with acute arthritis. Special reference to development of chronic spondyloarthropathy.		191160	23685	2	2002	 Possession of CD14 (-159)T allele does not increase risk of ReA but may increase susceptibility of female patients to development of chronic SpA.	Case:141 Caucasians who had had early arthritis 10 to 38 years earlier;Control:370 Caucasian blood donors										
136665	Y	sepsis; systemic inflammatory response syndrome	INFECTION	INF	Sepsis|Systemic Inflammatory Response Syndrome	6	6p21.3	TNF	31651328	31654091		Yu, B. J.  et al. 2003	14720421				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua yi xue za zhi. 2003 Dec;83(24):2132-6	[The associations of the single nucleotide polymorphisms on TNF and CD14 promoters with the mortality of infection, systematic inflammatory response syndromec and sepsis in surgical patients]		191160	23686	2	2003	 The A-allele at the -308 and -863 position in the TNF-alpha promoter and the T-allele at the -159 position in the CD14 promoter increase the risk for sepsis. The effect of SNP genotypes on TNF-alpha expression can modulate inflammatory response.	Control:100 healthy volunteers;Case:113 systematic inflammatory response syndrome patients, 40 complicated with sepsis										
136666		C-reactive protein	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Araujo, F.  et al. 2004	15469865				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinica chimica acta; international journal of clinical chemistry. 2004 Nov;349(2-Jan):129-34	The influence of tumor necrosis factor -308 and C-reactive protein G1059C gene variants on serum concentration of C-reactive protein: evidence foran age-dependent association.		191160	23687	2	2004	 These findings suggest an association between a functional genetic variant of the TNF-alpha gene and hs-CRP levels at particular age groups.	Cohort 684 asymptomatic Brazilian individuals, 295 men (43.1%) and 389 women Brazil 										
136661		glucose tolerance; adiponectin	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Gonzalez-Sanchez, J. L.  et al. 2005	16254197				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Clinical chemistry. 2006 Jan;52(1):97-103	Interaction of the -308G/A Promoter Polymorphism of the Tumor Necrosis Factor-{alpha} Gene with Single-Nucleotide Polymorphism 45 of the Adiponectin Gene: Effect on Serum AdiponectinConcentrations in a Spanish Population.		191160	23682	2	2005	 Our findings are the first to indicate that a higher incidence of impaired glucose tolerance and low circulating adiponectin concentration may be associated with interaction between the -308G/A promoter polymorphism of the TNF-alpha gene and SNP 45 in the adiponectin gene.											
136662		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Levine, A.  et al. 2005	15667501				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The American journal of gastroenterology. 2005 Feb;100(2):407-13	A polymorphism in the TNF-alpha promoter gene is associated with pediatric onset and colonic location of Crohn's disease.		191160	23683	2	2005	 Pediatric onset of CD in our population was associated with a frequent polymorphism in the binding site for NF-kappaB in TNF-alpha promoter but not to defined NOD2/CARD15 disease-associated mutations. This polymorphism is associated with colitis and familial disease. NOD2/CARD15 mutations and the TNF-863C/A polymorphism have equivalent but opposite effects on disease location. These findings may help explain differences in CD phenotype.	Case pediatric and adult onset Crohn's disease cases from two cohorts;Control:100 ethnically matched healthy controls										
136663		IL-1beta	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Heesen, M.  et al. 2002	12101079				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European cytokine network. 2002 Apr-Jun;13(2):230-3	The CD14-260 C --> T promoter polymorphism co-segregates with the tumor necrosis factor-alpha (TNF-alpha)-308 G --> A polymorphism and is associated with the interleukin-1 beta (IL-1 beta) synthesis capacity of human leukocytes.		191160	23684	2	2002	No association was found between the CD14 -260 genotypes or the TNF-alpha -308 - CD14 -260 genotypes and the TNF-alpha response.	Cohort healthy human blood donors 										
136658		Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	TNF	31651328	31654091		Mascheretti, S.  et al. 2002	12049175				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The pharmacogenomics journal. 2002 ;2(2):127-36	Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab.		191160	19927	2	2002	The discrepancy between the two cohorts observed for the TNF-R-II exon 6 and exon 2 polymorphism may point to a weak effect on treatment response but also serves to illustrate the need for a sequential exploratory/confirmatory design in pharmacogenetic studies.	Case refractory Crohn's disease patients;Control healthy controls:Cohort:90/444 an exploratory cohort (n=90) and a confirmatory cohort (n=444) from independent, prospective clinical trials	infliximab									
136659		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	6	6p21.3	TNF	31651328	31654091		Nicklas, B. J.  et al. 2005	16282562				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Oct;60(10):1292-8	Physical function and its response to exercise:associations with cytokine gene variation in older adults with knee osteoarthritis.		191160	19938	2	2005	 Walking distance and stair climbing speed are partly influenced by genetic variation in the IL-6 and TNFalpha genes in older individuals with knee osteoarthritis.		physical activity									
136660		smoking behavior	CHEMDEPENDENCY	CHEM	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fust, G.  et al. 2004	15339882				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Hungary|Iceland	CDC GDPinfo	7124	Hs.241570			International immunology. 2004 Oct;16(10):1507-14	Genetic basis of tobacco smoking: strongassociation of a specific major histocompatibility complex haplotype on chromosome 6 with smoking behavior		191160	19951	2	2004	Considering the documented link between olfactory stimuli and smoking in females, and the presence of a cluster of odorant receptor genes close to the MHC class I region, our findings implicate a potential role of the MHC-linked olfactory receptor genes in the initiation of smoking.	Control:101 healthy subjects;Case:232 coronary artery disease (CAD) patients with defined tobacco smoking habits:Hungary:Cohort:351 Icelandic subjects										
136655	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Tolusso, B.  et al. 2005	15585313				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Immunology letters. 2005 Jan;96(1):103-8	-238 and +489 TNF-alpha along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis.		191160	14420	2	2005	 TNF-alpha and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.	Case:114 consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets:Italy;Control:170 healthy blood donors										
136656	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Matthias, C.  et al. 2001	11602932				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Laryngo- rhino- otologie. 2001 Oct;80(10):595-600	[Influence of genetic variation in the major histocompatibility complex on head and neck cancer susceptibility]		191160	19894	2	2001	 The data provide the first evidence that allelism at MHC class III microsatellite markers is associated with risk to laryngeal SCC.	Control:113 controls not otherwise specified in abstract;Case:388 suamous cell carcinoma cases (265 laryngeal and 123 oral cavity/pharyngeal)										
136657	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zhu, X. Q.  et al. 2005	15730950				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Yi chuan. 2005 Jan;27(1):6-Jan	[Recognition and study of susceptible gene to ankylosing spondylitis]		191160	19905	2	2005	The result suggests that this variation has a strong association with AS in males and females. No similar reports about the association between AS and the T mutation allele have been acquired. Therefore, our hypothesis can be supported by our results on the whole and the -850C-->T mutation allele in the region on promoter of TNFalphagene is likely one of susceptible genes to AS.	Control normal subjects;Case:75 ankylosing spondylitis patients south of China										
136652	N	pulmonary fibrosis; pneumoconiosis, coal workers'	CARDIOVASCULAR	CARD	Pneumoconiosis|Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Li, L.  et al. 2004	15355698				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):241-4	[Potential effect of tumor necrosis factor-alpha and its receptor II gene polymorphisms on the pathogenesis of coal worker's pneumoconiosis]		191160	14417	2	2004	 TNF-alpha and TNFRII gene polymorphisms does not play an important role in susceptibility to CWP of Han race. TNF-alpha gene promoter polymorphisms might be related with the degree of severe pulmonary fibrosis in CWP.	Case:234 cases of coal worker's pneumoconiosis (CWP);Control:440 coal mine workers										
136653	N	sepsis	INFECTION	INF	Sepsis|Shock, Septic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Gordon, A. C.  et al. 2004	15526005				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Australia|England	CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2004 Dec;5(8):631-40	TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study.		191160	14418	2	2004	In this study, there were no significant associations between the selected candidate TNF or TNF receptor polymorphisms, or their haplotypes, and susceptibility to sepsis, illness severity or outcome. The influence of polymorphisms of the TNF locus on susceptibility to, and outcome from sepsis remains uncertain.	Cohort 213 Caucasian patients recruited from eight intensive care units UK and Australia 										
136654	N	silicosis	IMMUNE	IMM	Silicosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Li, L.  et al. 2004	15555301				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Oct;22(5):323-6	[Potential effect of tumor necrosis factor-alpha and tumor necrosis factor receptor II gene polymorphisms on the pathogenesis of silicosis.]		191160	14419	2	2004	 TNF-alpha and TNFR II gene polymorphisms did not play an important role in susceptibility to silicosis of Han race. There was interaction between polymorphism of TNF-alpha gene promoter and exposure time in the occurrence of silicosis. The risk of silicosis in those with G/A + A/A genotype was significantly higher than G/G genotype in low accumulative exposure.	Case:259 Han Chinese silicosis cases;Control:341 silica-dust exposure workers	silica-dust									
136649	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	6	6p21.3	TNF	31651328	31654091		Sashio, H.  et al. 2002	11904678				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Immunogenetics. 2002 Mar;53(12):1020-7	Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively.		191160	14403	2	2002	This study suggests that one of the genes responsible for UC may be the TNF gene, or an adjacent gene, and that TNFRSF1B gene polymorphisms contribute greatly to the increased onset risk of CD and to the disease behavior.	Case:106 patients with ulcerative colitis;Control:111 unrelated healthy controls;Case:124 patients with Crohn's disease										
136650		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zeggini, E.  et al. 2002	11961180				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Great Britain	CDC GDPinfo	7124	Hs.241570			Rheumatology (Oxford, England). 2002 Apr;41(4):462-5	Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis		191160	14404	2	2002	 This TNFRII exon 6 SNP does not seem to be associated with susceptibility to JIA.	Control:261 healthy individuals;Case:435 patients with juvenile idiopathic arthritis										
136651	N	narcolepsy	IMMUNE	IMM	Narcolepsy	6	6p21.3	TNF	31651328	31654091		Wieczorek, S.  et al. 2003	12601524				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Germany	CDC GDPinfo	7124	Hs.241570			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):87-90	Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in Germanpatients.		191160	14408	2	2003	In summary, our data do not provide evidence that TNFR genes are etiologically important for narcoleptic symptoms in German patients. In addition, our resutls provide further evidence for genetic heterogeneity among narcolepsy populations of different ethnic origin.	Case:100/93 German Caucasian unrelated patients with narcolepsy tested for TNFRSF1A (n=100) and for TNFRSF1B (n=93):Germany;Control:93/94 controls tested for TNFRSF1A (n=93) and for:TNFRSF1B (n=94)										
136645		benzene toxicity	METABOLIC	MET	Occupational Diseases|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Lv, L.  et al. 2005	16124898				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Jun;23(3):195-8	[Genetic polymorphism of tumor necrosis factor-alpha in patients with chronic benzene poisoning]		191160	14366	2	2005	 Individuals with TNF-alpha-308A/G gene polymorphism are susceptible to benzene poisoning.											
136646		silicosis	IMMUNE	IMM	Silicosis|Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Wang, D. J.  et al. 2005	16235536				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Sichuan da xue xue bao Yi xue ban. 2005 Sep;36(5):679-82, 712	[On the association of tumor necrosis factor-alpha gene polymorphisms with the susceptibility to silicosis]		191160	14368	2	2005	 TNF-alpha gene -308 and -238 locus (G --> A) mutation might be related to the occurrence of silicosis and the severity of pulmonary fibrosis in silicosis among the Han population of southwest China, and TNF2 (-308A) allele might increase the risk of the disease.											
136648	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6p21.3	TNF	31651328	31654091		Allen, R. A.  et al. 2001	11737221				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			European journal of clinical investigation. 2001 Oct;31(10):843-51	Polymorphisms in the TNF-alpha and TNF-receptor genes in patients with coronary artery disease		191160	14401	2	2001	 Polymorphisms in the TNF-alpha promoter region and TNF-receptor genes are not associated with the development of CAD.	Case:180 patients with angiographically proven single vessel (n = 58) and multivessel (n = 122) coronary artery:disease;Control:250 volunteers without clinical evidence of coronary artery disease										
136642	Y	cirrhosis, biliary primary; hepatitis, autoimmune	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Hepatitis, Autoimmune	6	6p21.3	TNF	31651328	31654091		Fan, L. Y.  et al. 2004	15059302				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Zhonghua gan zang bing za zhi. 2004 Mar;12(3):160-2	[Genetic association of tumor necrosis factor (TNF)-alpha polymorphisms with primary biliary cirrhosis and autoimmune liver diseases in a Chinese population]		191160	14349	2	2004	 Our findings suggest that the TNF-alpha promoter-region polymorphisms distribution is different between differe of ethnic groups; there are no genetic links of the TNF-alpha promoter-region polymorphisms to AIH and PBC in Chinese.	Control:160 healthy controls;Case:49/58 Chinese patients with AIH (n=49) and patients with:PBC (n=58)										
136643	Y	lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; tuberculosis	IMMUNE	IMM	Tuberculosis, Pulmonary|Autoimmune Diseases	6	6p21.3	TNF	31651328	31654091		Correa, P. A.  et al. 2004	15495570				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Biomedica. 2004 Jun;24 Supp 1:43-51	[Polymorphism of TNF-alpha in autoimmunity and tuberculosis]		191160	14354	2	2004	These results indicate that TNF2 is a common susceptibility allele for autoimmune rheumatic diseases and a protective one for tuberculosis. In addition, the data point towards a genetic selection in our population that might be maintained through dominant selection (heterozygote advantage) to infection by M. tuberculosis but susceptible to autoimmunity.	Case:165/118/67/138 patients with RA (N=165), SLE (N=118), pSS (N=67),:tuberculosis (N=138);Control:419 ethnic-matched controls										
136644		hepatitis B	INFECTION	INF		6	6p21.3	TNF	31651328	31654091		Liu, Y.  et al. 2005	16086278				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):406-10	[Association of TNFA polymorphisms with the outcomes of HBV infection]		191160	14365	2	2005	 TNFA promoter polymorphisms are important host genetic factors affecting the outcomes of HBV infection.											
136639	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Bikmaeva, A. R.  et al. 2002	12391840				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Bashkiria	CDC GDPinfo	7124	Hs.241570			Molekuliarnaia biologiia. 2002 Sep-Oct;36(5):784-7	[Polymorphism of the tumor necrosis factor alpha gene in patients with infiltrative tuberculosis and from the Bashkorstan populations]		191160	14338	2	2002	The frequency of allele TNF2 in tuberculosis patients was significantly higher than in controls (chi 2 = 11.69, p = 0.001), suggesting an association of this allele with higher risk of pulmonary tuberculosis or a disturbed immune response.	Case patients with infiltrative pulmonary tuberculosis:Bashkortostan;Control individuals from three ethnic groups										
136640	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	6	6p21.3	TNF	31651328	31654091		Wang, J. B.  et al. 2002	12513816				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2002 Apr;10(2):133-7	[Frequency of donor TNF-alpha gene polymorphism in patients with graft versus host disease following hematopoietic stem cell transplantation]		191160	14340	2	2002	In conclusion, the TNF-alpha-308 (G/A) is likely to contribute to high risk for III/IV degree acute GVHD and extensive chronic GVHD.	Cohort 21/27 patients with III/IV degree acute GVHD (n=21) and patients with extensive chronic GVHD (n=27) 										
136641	N	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Weight Loss	6	6p21.3	TNF	31651328	31654091		Morris, A. M.  et al. 2003	14625134	TNFalpha-308 A/G			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian	Australia	CDC GDPinfo	7124	Hs.241570			Diabetes research and clinical practice. 2003 Dec;62(3):197-201	-308 Nco I polymorphism of tumour necrosis factor alpha in overweight Caucasians		191160	14348	2	2003	The AA variant at position -308 in the promoter region of the TNFalpha gene does not influence the amount of weight lost in overweight and obese men and women on a 30% energy restricted diet.	Control:189 healthy subjects;Case:91 Caucasian subjects with type 2 diabetes:Australian	diet									
136636	Y	pre-term delivery infant mortality and malaria morbidity	OTHER	OTH	Malaria, Falciparum|Obstetric Labor, Premature|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Aidoo M et al. 2001	11668577			promoter	tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC028148		Kenya	KGB	7124	Hs.241570			Genetic epidemiology. 2001 Nov;21(3):201-11	Tumor necrosis factor-alpha promoter variant 2 (TNF2) is associated with pre-term delivery infant mortality and malaria morbidity in western Kenya: Asembo Bay Cohort Project IX.		191160	6112	1	2001	These data suggest that the TNF2 allele of the gene TNF is a risk factor for pre-term birth and early childhood mortality and malaria morbidity in children in this region.											
136637	Y	chronic atrophic gastritis and gastric carcinoma	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	6	6p21.3	TNFA	31652270	31654091	0,0002	Machado JC 2003	12891537	-308		5'promoter	tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC028148	North Portgal		KGB	7124	Hs.241570			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		191160	6113	1	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:287; Control:304										
136638	Y	sepsis	INFECTION	INF	Sepsis|Surgical Wound Infection	6	6p21.3	TNF	31651328	31654091		Shu, Q.  et al. 2000	11798757				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		China	CDC GDPinfo	7124	Hs.241570			Zhonghua yi xue za zhi. 2000 Mar;80(3):193-5	[Association of tumor necrosis factor microsatellite polymorphism with incidence and outcome of severe postoperative sepsis]		191160	14334	2	2000	 TNFc microsatellite polymorphism is significantly associated with the incidence and outcome of severe postoperative sepsis.	Case:122 patients with severe postoperative sepsis;Control:138 local ethnically matched healthy individuals										
136632	N	inflammatory polyarthritis.	CARDIOVASCULAR	CARD	Arthritis	6	6p21.3	TNF	31651328	31654091		Barton A 2004	14962963				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Annals of the rheumatic diseases. 2004 Mar;63(3):280-4	Polymorphisms in the tumour necrosis factor gene are not associated with severity of inflammatory polyarthritis.		191160	6108	1	2004	 The TNFalpha gene does not seem to be associated with severity as assessed by erosive outcome at 5 years in patients with IP.											
136633	N	Early failure of dental implants	OTHER	OTH		6	6p21.3	TNF	31651328	31654091		Campos MI 2004	15017311	G-308A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Brazilian		KGB	7124	Hs.241570			Implant dentistry. 2004 Mar;13(1):95-101	Early failure of dental implants and TNF-alpha (G-308A) gene polymorphism.		191160	6109	1	2004		Case:28; Control:38										
136634		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		D'Alfonso S 1996	8813745				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian	Italy	Y Wang	7124	Hs.241570			Tissue antigens. 1996 Jun;47(6):551-5	Association between polymorphisms in the TNF region and systemic lupus erythematosus in the Italian population.		191160	6110	1	1996												
136635		obesity	METABOLIC	MET	Insulin Resistance|Obesity	6	6p21.3	TNF	31651328	31654091		Pihlajamaki J 2003	12855762				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Obesity research. 2003 Jul;11(7):912-7	The effect of the -308A allele of the TNF-alpha gene on insulin action is dependent on obesity.		191160	6111	1	2003												
136628		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Deng GY 2004	8882412				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	U.S. Caucasians and Chinese in Taiwan		Y Wang	7124	Hs.241570			Human immunology. 1996 Feb;45(2):137-42	No primary association between the 308 polymorphism in the tumor necrosis factor alpha promoter region and insulin-dependent diabetes mellitus		191160	6104	1	2004												
136630	N	Schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091		Hashimoto R 2004	14767724			5' promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		KGB	7124	Hs.241570			J Neural Transm. 2004 Feb;111(2):217-21	Association analysis of the -308G>A promoter polymorphism of the tumor necrosis factor alpha (TNF-alpha) gene in Japanese patients with schizophrenia.		191160	6106	1	2004	We conclude that  the effect of the -308G > A polymorphism on the development of schizophrenia is, if any, weak and the majority of Japanese schizophrenics are unrelated to the -308G > A polymorphism of the TNF-alpha gene.	Case:297; Control:458										
136631		systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Danis VA1995	7614782				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Disease markers. 1995 Mar;12(2):127-33	Increased frequency of the uncommon allele of a tumour necrosis factor alpha gene polymorphism in rheumatoid arthritis and systemic lupus erythematosus.		191160	6107	1	1995												
136624	N	syncytial virus bronchiolitis	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	6	6p21.3	TNF	31651328	31654091		Hoebee B 2004	14722888			5' promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of promoter variants of interleukin-10, interleukin-9, and tumor necrosis factor-alpha genes on respiratory syncytial virus bronchiolitis.		191160	6100	1	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus										
136625		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	6	6p21.3	TNF	31651328	31654091		Ishii T 2000	11145126				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		Y Wang	7124	Hs.241570	Complications		Metabolism:  clinical and experimental. 2000 Dec;49(12):1616-8	Tumor necrosis factor alpha gene G-308A polymorphism, insulin resistance, and fasting plasma glucose in young, older, and diabetic Japanese men.		191160	6101	1	2000												
136627		polymyositis and dermatomyositis.	IMMUNE	IMM	Dermatomyositis|Polymyositis	6	6p21.3	TNF	31651328	31654091		Hassan AB 2004	15022353			haplotype	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Arthritis and rheumatism. 2004 Mar;50(3):1013-5	Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis.		191160	6103	1	2004												
136621		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Ko GT 2003	12581271				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese	China	Y Wang	7124	Hs.241570			Diabetic medicine. 2003 Feb;20(2):167-8	Tumour necrosis factor-alpha promoter gene polymorphism at - 308 (genotype AA) in Chinese subjects with Type 2 diabetes.		191160	6097	1	2003												
136622	Y	acute renal allograft rejection	IMMUNE	IMM	Acute Disease	6	6p21.3	TNF	31651328	31654091		Lee H 2004	14693849	TNFA -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of clinical pathology. 2004 Jan;57(1):101-3	Influence of recipient and donor IL-1alpha, IL-4, and TNFalpha genotypes on the incidence of acute renal allograft rejection.		191160	6098	1	2004	 This finding argues for prospective TNFA genotyping of renal donors, with avoidance of allocation of kidneys from donors positive for the TNFA-A allele to HLA-DR mismatched recipients.											
136623	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	6	6p21.3	TNF	31651328	31654091		Kankova K 2002	12149604				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian	Europe	Y Wang	7124	Hs.241570	Complications		Diabetes & metabolism. 2002 Jun;28(3):231-7	Polymorphism Ncol in tumor necrosis factor B is associated with fasting glycemia and lipid parameters in healthy non-obese caucasian subjects.		191160	6099	1	2002	 Our results indicate significant association of the TNF-B Ncol polymorphism with FPG, LDL and total cholesterol in normoglycemic non-obese Caucasian subjects. This polymorphism could be involved in genetic modulation of glucose and lipid homeostasis and regulation of insulin sensitivity already in healthy state. Disturbances of this regulation could be component of pathogenesis of type 2 diabetes mellitus.											
136617		cerebral infarction.	CARDIOVASCULAR	CARD	Cerebral Infarction	6	6p21.3	TNF	31651328	31654091		Um JY 2004	14992821				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Korean	Korea	KGB	7124	Hs.241570			Brain research  Molecular brain research. 2004 Mar;122(1):99-102	Tumor necrosis factor alpha gene polymorphism is associated with cerebral infarction.		191160	6093	1	2004												
136618		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Rau H 2004	9174153				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Tissue antigens. 1997 May;49(5):535-6	Polymorphisms of tumor necrosis factor receptor 2 are not associated with insulin-dependent diabetes mellitus or Graves' disease		191160	6094	1	2004												
136619		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Rudwaleit M 1996	8895148				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		Y Wang	7124	Hs.241570			The Journal of rheumatology. 1996 Oct;23(10):1725-8	Interethnic differences in the association of tumor necrosis factor promoter polymorphisms with systemic lupus erythematosus.		191160	6095	1	1996	 The increase of TNF2 in Caucasians with SLE is most likely due to linkage disequilibrium between TNF2 and DR3. Furthermore, the observation that TNF2 seems to be reduced in blacks with SLE strongly suggests this polymorphism is not an independent risk factor for SLE. Overall, our data indicate that the TNF-238 and TNF-308 promoter polymorphisms do not confer susceptibility to SLE.											
136612	Y	noncardia gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zambon CF 2004	14753224	?308 G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Gastroenterology. 2004 Jan;126(1):382-4	Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms.		191160	6088	1	2004												
136613	N	chronic immune thrombocytopenic purpura.	IMMUNE	IMM	Purpura, Thrombocytopenic, Idiopathic|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Satoh T 2004	15009068	-238 G/A and -308 G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese		KGB	7124	Hs.241570			British journal of haematology. 2004 Mar;124(6):796-801	Single nucleotide polymorphisms of the inflammatory cytokine genes in adults with chronic immune thrombocytopenic purpura.		191160	6089	1	2004												
136614		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Shbaklo H 2004	12770796				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Lebanon		Y Wang	7124	Hs.241570			Human immunology. 2003 Jun;64(6):633-8	No association between the -1031 polymorphism in the TNF-alpha promoter region and type 1 diabetes.		191160	6090	1	2003												
136615		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Tomita Y 1993	7903914				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Clinical and experimental rheumatology. 1993 Sep-Oct;11(5):533-6	Restriction fragment length polymorphism (RFLP) analysis in the TNF genes of patients with systemic lupus erythematosus (SLE).		191160	6091	1	1993												
136609	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Volzke H 2004	12899665	-238 G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		191160	6085	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
136610	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	6	6p21.3	TNF	31651328	31654091		Volzke H 2004	12899665	-308 G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		191160	6086	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
136611		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Wang Y 1998	10923420				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		Y Wang	7124	Hs.241570			Zhonghua yi xue za zhi. 1998 Feb;78(2):111-4	The association of sasceptibility of SLE and the gene polymorphism of TNF		191160	6087	1	1998	 TNF alpha gene polymorphism has no effect on SLE, but TNF beta * 2 allelic type may be related to the susceptibility of SLE in Chinese Han population to some extent.											
136606		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	6	6p21.3	TNF	31651328	31654091		Vatay A 2003	12811429				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Immunogenetics. 2003 Jul;55(4):247-52	Relationship between the tumor necrosis factor alpha polymorphism and the serum C-reactive protein levels in inflammatory bowel disease.		191160	6082	1	2003												
136607	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TNF	31651328	31654091	n	Lo SF 2003	12750939				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Taiwan	KGB	7124	Hs.241570			Rheumatology international. 2003 Jul;23(4):151-3	Lack of association of tumor necrosis factor alpha gene polymorphism in patients with rheumatoid arthritis in central Taiwan.		191160	6083	1	2003												
136608		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zuniga J 2001	11704801				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Mexico	Y Wang	7124	Hs.241570			Genes and immunity. 2001 Nov;2(7):363-6	Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with systemic lupus erythematosus (SLE).		191160	6084	1	2001												
136601		HIV	INFECTION	INF	HIV Infections|Disease Progression	6	6p21.3	TNF	31651328	31654091		An P 2003	12854077			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of infectious diseases. 2003 Jul;188(2):228-31	A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.		191160	6077	1	2003	It is possible that increased IFN-gamma production induced by TNF-alpha when -179T is present causes CD4 cell depletion by apoptosis.	Cohort 298 African American human immunodeficiency virus (HIV)-1 seroconverters										
136603		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091		Pae CU 2003	12839521				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Korean		KGB	7124	Hs.241570			Psychiatry and clinical neurosciences. 2003 Aug;57(4):399-403	Tumor necrosis factor-alpha gene polymorphism at position -308 and schizophrenia in the Korean population.		191160	6079	1	2003												
136604		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Body Weight	6	6p21.3	TNF	31651328	31654091		Kubaszek A 2003	12829659			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Diabetes. 2003 Jul;52(7):1872-6	Promoter polymorphisms of the TNF-alpha (G-308A) and IL-6 (C-174G) genes predict the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study.		191160	6080	1	2003	We conclude that  the -308A allele of the promoter polymorphism (G-308A) of the TNF-alpha gene is a predictor for the conversion from IGT to type 2 diabetes. Furthermore, this polymorphism seems to have a gene-gene interaction with the C-174C genotype of the IL-6 gene.											
136597	N	hepatitis C infection	INFECTION	INF	Hepatitis C	6	6p21.3	TNF	31651328	31654091		Barrett S 2003	12938195				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection.		191160	6073	1	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive))										
136598		infectious risk and outcome in surgical intensive care patients	INFECTION	INF	Cross Infection|Sepsis|Shock, Septic|Critical Illness|Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	6	6p21.3	TNF	31651328	31654091		Calvano JE 2003	12906716				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Surgical infections. 2003 ;4(2):163-9	Influence of the TNF-alpha and TNF-beta polymorphisms upon infectious risk and outcome in surgical intensive care patients.		191160	6074	1	2003	 The presence of the A allele at these polymorphic sites did not predispose critically ill surgical patients to either infection or septic shock.											
136600		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Costa A 2003	12898475	-863A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Metabolism:  clinical and experimental. 2003 Aug;52(8):1068-71	Lower rate of tumor necrosis factor-alpha -863A allele and higher concentration of tumor necrosis factor-alpha receptor 2 in first-degree relatives of subjects with type 2 diabetes.		191160	6076	1	2003												
136594		autoimmune-associated congenital heart block.	IMMUNE	IMM	Fetal Diseases|Heart Block|Exanthema|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Clancy RM 2003	12960355				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of immunology (Baltimore, Md :  1950). 2003 Sep;171(6):3253-61	Cytokine polymorphisms and histologic expression in autopsy studies: contribution of TNF-alpha and TGF-beta 1 to the pathogenesis of autoimmune-associated congenital heart block.		191160	6070	1	2003												
136595	N	coronary artery disease	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091	n	Georges JL 2003	12943869				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	systemic inflammation		The American journal of cardiology. 2003 Sep;92(5):515-21	Impact of pathogen burden in patients with coronary artery disease in relation to systemic inflammation and variation in genes encoding cytokines.		191160	6071	1	2003												
136596		hemochromatosis	METABOLIC	MET	Hemochromatosis	6	6p21.3	TNF	31651328	31654091		Distante S 2003	12940442			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Scandinavian journal of gastroenterology. 2003 Aug;38(8):871-7	Tumour necrosis factor alpha and its promoter polymorphisms' role in the phenotypic expression of hemochromatosis.		191160	6072	1	2003	 Neither TNF-alpha, released from PBMC nor the presence of TNF-alpha polymorphisms seem to be associated with disease manifestation in hemochromatosis.											
136589		HPV-associated cervical dysplasia	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Uterine Cervical Dysplasia|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kirkpatrick A 2004	14766265	-308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Gynecologic oncology. 2004 Feb;92(2):675-9	TNFalpha polymorphism frequencies in HPV-associated cervical dysplasia.		191160	6065	1	2004	 These findings support the hypothesis that susceptibility to CIN is influenced by TNFalpha -308 polymorphism.											
136591	N	periportal fibrosis	INFECTION	INF	Schistosomiasis mansoni|Hypertension, Portal|Fibrosis	6	6p21.3	TNF	31651328	31654091	n	Moukoko CE 2003	14500462				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Sudan	KGB	7124	Hs.241570			Infection and immunity. 2003 Oct;71(10):5456-60	No evidence for a major effect of tumor necrosis factor alpha gene polymorphisms in periportal fibrosis caused by Schistosoma mansoni infection.		191160	6067	1	2003												
136592	Y	increased cardiopulmonary morbidity	CARDIOVASCULAR	CARD	Lung Diseases|Heart Diseases|Ventricular Dysfunction, Left|Inflammation|Postoperative Complications	6	6p21.3	TNF	31651328	31654091		Tomasdottir H 2003	14500138				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	cardiac surgery		Anesthesia and analgesia. 2003 Oct;97(4):944-9, table of contents	Tumor necrosis factor gene polymorphism is associated with enhanced systemic inflammatory response and increased cardiopulmonary morbidity after cardiac surgery.		191160	6068	1	2003												
136585	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Hirashiki A 2003	14563588	850C3T			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	KGB	7124	Hs.241570			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		191160	6061	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
136586		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Vasculitis, Central Nervous System|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		May LA 2002	11958574				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Lupus. 2002 ;11(2):114-8	Relationship of tumour necrosis factor alpha gene polymorphisms and neuropsychiatric lupus.		191160	6062	1	2002												
136588		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Lee YJ 2004	10803866				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Journal of pediatric endocrinology & metabolism. 2000 May;13(5):489-96	Polymorphism in the transmembrane region of the MICA gene and type 1 diabetes.		191160	6064	1	2004												
136581	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	p<0.001	Rainero I 2004	14718719	-308 G/A		coding sequence	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italy	Italy	KGB	7124	Hs.241570			Neurology. 2004 Jan;62(1):141-3	Association between the tumor necrosis factor-alpha -308 G/A gene polymorphism and migraine.		191160	6057	1	2004		Case:299 migraine patients (IHS criteria); Control:306 subjects										
136583		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Lee YJ 2004	10803866				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Journal of pediatric endocrinology & metabolism. 2000 May;13(5):489-96	Polymorphism in the transmembrane region of the MICA gene and type 1 diabetes.		191160	6059	1	2004												
136584	Y	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	6	6p21.3	TNF	31651328	31654091	0.02	Kerr JR 2003	14514772	-308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	parvovirus		Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		191160	6060	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
136577	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Bouqbis L et al. 2003	12622777				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Moroccan	Morocco	Y Wang	7124	Hs.241570			Tissue antigens. 2003 Jan;61(1):72-9	TNFA-TNFB haplotypes modify susceptibility to type I diabetes mellitus independently of HLA class II in a Moroccan population		191160	6053	1	2003												
136578		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Rau H 2004	9174153				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Tissue antigens. 1997 May;49(5):535-6	Polymorphisms of tumor necrosis factor receptor 2 are not associated with insulin-dependent diabetes mellitus or Graves' disease		191160	6054	1	2004												
136579		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Obayashi H 2004	10566598				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Japan	Y Wang	7124	Hs.241570			Human immunology. 1999 Oct;60(10):974-8	Influence of TNF microsatellite polymorphisms (TNFa) on age-at-onset of insulin-dependent diabetes mellitus.		191160	6055	1	2004												
136580		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Pociot F 2004	8093442				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			European journal of immunology. 1993 Jan;23(1):224-31	Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus		191160	6056	1	2004												
136574	Y	oral cancer	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis	6	6p21.3	TNF	31651328	31654091		Chiu CJ et al. 2001	11808761				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Taiwan	KGB	7124	Hs.241570			Journal of dental research. 2001 Dec;80(12):2055-9	Association between genetic polymorphism of tumor necrosis factor-alpha and risk of oral submucous fibrosis a pre-cancerous condition of oral cancer.		191160	6050	1	2001	The finding may imply a multifunctional etiological factor of TNF-alpha in OSF pathogenesis.	Case:166 oral submucous fibrosis subjects;Control:284 areca-chewing controls										
136575	N	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Gonzalez-Gay MA et al. 2002	12102486				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Clinical and experimental rheumatology. 2002 May-Jun;20(3):431	Lack of association between IL-1 cluster and TNF-alpha gene polymorphisms and giant cell arteritis.		191160	6051	1	2002												
136576	N	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	TNF	31651328	31654091	n	Hamamoto Y et al. 2000	11121160			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	KGB	7124	Hs.241570			The Journal of investigative dermatology. 2000 Dec;115(6):1162-4	Lack of association between promoter polymorphism of the tumor necrosis factor-alpha gene and psoriatic arthritis in Japanese patients.		191160	6052	1	2000												
136570	Y	increased development of adult T-cell leukemia/lymphoma	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Tsukasaki K et al. 2001	11325850				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		191160	6046	1	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
136571	Y	interleukin-1 beta (IL-1 beta) synthesis capacity	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Heesen M et al. 2002	12101079			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			European cytokine network. 2002 Apr-Jun;13(2):230-3	The CD14-260 C --> T promoter polymorphism co-segregates with the tumor necrosis factor-alpha (TNF-alpha)-308 G --> A polymorphism and is associated with the interleukin-1 beta (IL-1 beta) synthesis capacity of human leukocytes.		191160	6047	1	2002	No association was found between the CD14 -260 genotypes or the TNF-alpha -308 - CD14 -260 genotypes and the TNF-alpha response.	Cohort healthy human blood donors										
136572	Y	meliodosis	OTHER	OTH	Bacteremia|Melioidosis	6	6p21.3	TNF	31651328	31654091		Nuntayanuwat S et al. 1999	10566599			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Thailand	KGB	7124	Hs.241570			Human immunology. 1999 Oct;60(10):979-83	Polymorphism in the promoter region of tumor necrosis factor-alpha gene is associated with severe meliodosis.		191160	6048	1	1999												
136566		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Shtauvere-Brameus A et al. 2002	12021142				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Latvia	KGB	7124	Hs.241570			Annals of the New York Academy of Sciences. 2002 Apr;958:357-61	Tumor necrosis factor-alpha allele 2 shows an association with insulin-dependent diabetes mellitus in Latvians.		191160	6042	1	2002												
136567	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	6	6p21.3	TNF	31651328	31654091	n	Korhonen S et al. 2002	12396555				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Finland	KGB	7124	Hs.241570			Gynecological endocrinology. 2002 Aug;16(4):271-4	Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alpha and polycystic ovary syndrome.		191160	6043	1	2002												
136568	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	n	Louis R et al. 2000	11106199	308 polymorphism			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The European respiratory journal. 2000 Oct;16(4):604-8	Lack of association between adult asthma and the tumour necrosis factor alpha-308 polymorphism gene.		191160	6044	1	2000												
136569	Y	Excessive fat accumulation	OTHER	OTH	Obesity	6	6p21.3	TNF	31651328	31654091		Hoffstedt J et al. 2000	10672452			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Diabetologia. 2000 Jan;43(1):117-20	Excessive fat accumulation is associated with the TNF alpha-308 G/A promoter polymorphism in women but not in men.		191160	6045	1	2000												
136562	N	Recurrent aphthous stomatitis	OTHER	OTH	Stomatitis, Aphthous|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Bazrafshani MR et al. 2002	12477062				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Oral diseases. 2002 Nov;8(6):303-7	Recurrent aphthous stomatitis and gene polymorphisms for the inflammatory markers TNF-alpha TNF-beta and the vitamin D receptor: no association detected.		191160	6038	1	2002	 Inheritance of specific gene polymorphisms for TNF-alpha, TNF-beta or VDR does not appear to be a significant factor in determining susceptibility to MiRAS.											
136563		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Brinkman BM et al. 1997	9189051				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			British journal of rheumatology. 1997 May;36(5):516-21	Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to or severity of disease?		191160	6039	1	1997												
136564	N	systemic vasculitis	CARDIOVASCULAR	CARD	Keratitis|Vasculitis	6	6p21.3	TNF	31651328	31654091	n	McKibbin M et al. 2000	10729297				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The British journal of ophthalmology. 2000 Apr;84(4):395-8	No strong association between alleles of tumour necrosis factor alpha and interleukin-1 receptor antagonist and corneal melting associated with systemic vasculitis.		191160	6040	1	2000	 The results suggest that the polymorphic alleles of TNF-alpha and IL-1Ra studied play little or no part in the susceptibility to corneal melting among these patients with systemic vasculitis.											
136558	N	insulin sensitivity and insulin secretion	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091	n	Koch M et al. 2000	10753039			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Diabetologia. 2000 Feb;43(2):181-4	The tumour necrosis factor alpha -238 G --> A and -308 G --> A promoter polymorphisms are not associated with insulin sensitivity and insulin secretion in young healthy relatives of Type II diabetic patients.		191160	6034	1	2000												
136559	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TNF	31651328	31654091	n	Lucotte G et al. 2000	10773851			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		France	KGB	7124	Hs.241570			Multiple sclerosis (Houndmills, Basingstoke, England). 2000 Apr;6(2):78-80	TNF-alpha polymorphisms in multiple sclerosis: no association with -238 and -308 promoter alleles but the microsatellite allele a11 is associated with the disease in French patients.		191160	6035	1	2000												
136561	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091		Reich K et al. 2002	11851889			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of investigative dermatology. 2002 Jan;118(1):155-63	Promoter polymorphisms of the genes encoding tumor necrosis factor-alpha and interleukin-1beta are associated with different subtypes of psoriasis characterized by early and late disease onset.		191160	6037	1	2002												
136554	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Noguchi E et al. 2002	12091169				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2002 Jul;166(1):43-6	Association between TNFA polymorphism and the development of asthma in the Japanese population.		191160	6030	1	2002												
136555	Y	chemotherapy-induced pulmonary fibrosis	OTHER	OTH	Hodgkin Disease|Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Libura J et al. 2002	12030733				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The European respiratory journal. 2002 May;19(5):912-8	Risk of chemotherapy-induced pulmonary fibrosis is associated with polymorphic tumour necrosis factor-a2 gene.		191160	6031	1	2002												
136557		high TNF levels is not a risk factor for venous thromboem	OTHER	OTH	Thromboembolism	6	6p21.3	TNF	31651328	31654091		Brown K et al. 1998	9633890				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			British journal of haematology. 1998 Jun;101(3):480-2	A common polymorphism in the tumour necrosis factor-alpha gene associated with high TNF levels is not a risk factor for venous thromboembolism.		191160	6033	1	1998												
136550	Y	lipodystrophy	OTHER	OTH	HIV-Associated Lipodystrophy Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Nolan D et al. 2003	12478078			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	rapid onset		AIDS (London, England). 2003 Jan;17(1):121-3	Tumour necrosis factor-alpha gene -238G/A promoter polymorphism associated with a more rapid onset of lipodystrophy.		191160	6026	1	2003												
136551	Y	insulin resistance in obesity	METABOLIC	MET	Insulin Resistance|Obesity|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	< 0.001	Dalziel B et al. 2002	12006640	-308 G/A		promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	morbidly obese		KGB	7124	Hs.241570			Obesity research. 2002 May;10(5):401-7	Association of the TNF-alpha -308 G/A promoter polymorphism with insulin resistance in obesity.		191160	6027	1	2002		Case:187										
136552	Y	psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis	6	6p21.3	TNF	31651328	31654091		Hohler T et al. 1997	9326391			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of investigative dermatology. 1997 Oct;109(4):562-5	A TNF-alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.		191160	6028	1	1997												
136546	N	lichen sclerosus	OTHER	OTH	Lichen Sclerosus et Atrophicus	6	6p21.3	TNF	31651328	31654091	n	Clay FE et al. 1996	8889470			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Experimental dermatology. 1996 Aug;5(4):227-9	Promoter region polymorphism in the human TNF-alpha gene is not associated with lichen sclerosus.		191160	6022	1	1996												
136547	Y	malarial anemia and cerebral malaria	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum|Anemia	6	6p21.3	TNF	31651328	31654091		McGuire W et al. 1999	9841857			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Gambia	KGB	7124	Hs.241570			The Journal of infectious diseases. 1999 Jan;179(1):287-90	Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles.		191160	6023	1	1999												
136548	N	palmoplantar pustulosis	OTHER	OTH	Psoriasis	6	6p21.3	TNF	31651328	31654091	n	Niizeki H et al. 2000	11019918			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Tissue antigens. 2000 Aug;56(2):162-5	Polymorphisms in the TNFA promoter region is not associated with palmoplantar pustulosis.		191160	6024	1	2000												
136549	Y	fibrosing alveolitis	OTHER	OTH	Pulmonary Fibrosis|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Whyte M et al. 2000	10934117				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2000 Aug;162(2 Pt 1):755-8	Increased risk of fibrosing alveolitis associated with interleukin-1 receptor antagonist and tumor necrosis factor-alpha gene polymorphisms.		191160	6025	1	2000												
136543	N	diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091	n	Pociot F et al. 1993	8223882				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			European journal of immunology. 1993 Nov;23(11):3050-3	No independent association between a tumor necrosis factor-alpha promotor region polymorphism and insulin-dependent diabetes mellitus.		191160	6019	1	1993												
136544	Y	meningococcal disease.	INFECTION	INF	Meningococcal Infections	6	6p21.3	TNF	31651328	31654091		Nadel S et al. 1996	8843235			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of infectious diseases. 1996 Oct;174(4):878-80	Variation in the tumor necrosis factor-alpha gene promoter region may be associated with death from meningococcal disease.		191160	6020	1	1996												
136545	Y	Bone mineral mass	METABOLIC	MET	Osteoporosis, Postmenopausal|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Fontova R et al. 2002	12240899				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Mediterranean Region	KGB	7124	Hs.241570			Journal of endocrinological investigation. 2002 Sep;25(8):684-90	Bone mineral mass is associated with interleukin 1 receptor autoantigen and TNF-alpha gene polymorphisms in post-menopausal Mediterranean women.		191160	6021	1	2002	We conclude that  both IL-1ra and TNF-alpha can be candidate loci to be studied in the susceptibility to develop post-menopausal osteoporosis.	Case:104 post-menopausal osteoporotic women (58.6+/-4.8 yr);Control:51 post-menopausal women without osteoporosis										
136538	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Cuenca J 2003	12595628				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chilean		KEW	7124	Hs.241570			Rheumatology (Oxford, England). 2003 Feb;42(2):308-13			191160	6014	1	2003	 No associations were found between the -308 TNF promoter polymorphism, serum and ex vivo TNF levels and the cytotoxic activity of TNF in RA patients.	Case:92; Control:42										
136540	N	copd	IMMUNE	IMM	Bronchiectasis|Lung Diseases, Obstructive	6	6p21.3	TNF	31651328	31654091	n	Teramoto S et al. 2001	11157631				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	KGB	7124	Hs.241570			Chest. 2001 Jan;119(1):315-6	No association of tumor necrosis factor-alpha gene polymorphism and copd in Caucasian smokers and Japanese smokers.		191160	6016	1	2001												
136541	N	insulin resistance syndrome	METABOLIC	MET	Insulin Resistance	6	6p21.3	TNF	31651328	31654091	n	da Sliva B et al. 2000	10916281				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of investigative medicine. 2000 Jul;48(4):236-44	Lack of association between the -308 polymorphism of the tumor necrosis factor-alpha gene and the insulin resistance syndrome.		191160	6017	1	2000	 In African Americans and whites, neither the TNF2 allele nor another polymorphism in the TNF-alpha gene or a neighboring gene with which the TNF2 allele is in linkage disequilibrium is associated with differences in the level of or increased clustering of components of the insulin resistance syndrome.											
136534	Y	thyroid-associated ophthalmopathy	OTHER	OTH	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kamizono S et al. 2000	10848881				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	KGB	7124	Hs.241570			Clinical endocrinology. 2000 Jun;52(6):759-64	A polymorphism of the 5' flanking region of tumour necrosis factor alpha gene is associated with thyroid-associated ophthalmopathy in Japanese.		191160	6010	1	2000	 These results suggest that the - 1031C or - 863 A alleles, or a gene in linkage disequilibrium with the TNF-alpha gene, predispose to the development of ophthalmopathy in Japanese patients with Graves' disease.											
136536	Y	human narcolepsy.	OTHER	OTH	Narcolepsy	6	6p21.3	TNF	31651328	31654091		Hohjoh H et al. 1999	10488740			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Tissue antigens. 1999 Aug;54(2):138-45	Significant association of a single nucleotide polymorphism in the tumor necrosis factor-alpha (TNF-alpha) gene promoter with human narcolepsy.		191160	6012	1	1999												
136537	N	polycystic ovaries	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity	6	6p21.3	TNF	31651328	31654091	n	Milner CR et al. 1999	10050654			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Molecular human reproduction. 1999 Jan;5(1):9-May	No association between the -308 polymorphism in the tumour necrosis factor alpha (TNFalpha) promoter region and polycystic ovaries.		191160	6013	1	1999												
136531	N	features of the insulin resistance syndrome or altered birth weight	OTHER	OTH	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Birth Weight	6	6p21.3	TNF	31651328	31654091	n	Rasmussen SK et al. 2000	10770222	-238 and -308 G-->A		promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	caucasian	Denmark	KGB	7124	Hs.241570			The Journal of clinical endocrinology and metabolism. 2000 Apr;85(4):1731-4	The -238 and -308 G-->A polymorphisms of the tumor necrosis factor alpha gene promoter are not associated with features of the insulin resistance syndrome or altered birth weight in Danish Caucasians.		191160	6007	1	2000												
136532	Y	Plasmodium falciparum reinfections	INFECTION	INF	Malaria, Falciparum|Disease Susceptibility|Recurrence	6	6p21.3	TNF	31651328	31654091		Meyer CG et al. 2002	12135427				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Tissue antigens. 2002 Apr;59(4):287-92	TNFalpha-308A associated with shorter intervals of Plasmodium falciparum reinfections.		191160	6008	1	2002												
136533	N	suppression of induction of contact sensitivity	OTHER	OTH	Dermatitis, Contact	6	6p21.3	TNF	31651328	31654091	n	Allen MH et al. 1998	9767235				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The British journal of dermatology. 1998 Aug;139(2):225-9	Ultraviolet B induced suppression of induction of contact sensitivity in human skin is not associated with tumour necrosis factor-alpha-308 or interleukin-10 genetic polymorphisms.		191160	6009	1	1998												
136526		gastric carcinoma	CANCER	CAN	Epstein-Barr Virus Infections|Adenocarcinoma|Stomach Neoplasms	6	6p21.3	TNF	31651328	31654091		Wu MS et al. 2002	11756988			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		China|Taiwan	KGB	7124	Hs.241570			The Journal of infectious diseases. 2002 Jan;185(1):106-9	Tumor necrosis factor-alpha and interleukin-10 promoter polymorphisms in Epstein-Barr virus-associated gastric carcinoma.		191160	6002	1	2002												
136527	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TNF	31651328	31654091		Fernandez-Arquero M et al. 1999	10522904				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Neurology. 1999 Oct;53(6):1361-3	Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis.		191160	6003	1	1999												
136529	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Lee MK et al. 2002	12057750			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Fertility and sterility. 2002 Jun;77(6):1304-5	Tumor necrosis factor-alpha and interleukin-6 promoter gene polymorphisms are not associated with an increased risk of endometriosis.		191160	6005	1	2002												
136522	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	TNF	31651328	31654091	0.008	Kawasaki A et al. 2000	11196680	-1031C/-863A/-857C		5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	Tsuchiya N	7124	Hs.241570			Genes and immunity. 2000 Aug;1(6):351-7			191160	5998	1	2000		Case:154; Control:265										
136524	N	Coronary Atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091	n	Elghannam H 2000	11199329	``-308G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			TJB	7124	Hs.241570			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		191160	6000	1	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study	fluvastatin									
136525	N	Asthma. rhinitis	IMMUNE	IMM	Asthma|Hypersensitivity	6	6p21.3	TNF	31651328	31654091	n	Zhu S 2000	10806171	TNF-308*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Canadian infants (mixed)	Asia	KCB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			191160	6001	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
136517	Y	GVHD	IMMUNE	IMM	Hematologic Neoplasms|Myelodysplastic Syndromes|Granulomatous Disease, Chronic|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	TNF	31651328	31654091	0.006	Middleton PG 1998	9808588	TNFd			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Blood. 1998 Nov;92(10):3943-8			191160	5993	1	1998												
136519	N	Human Longevity	AGING	AGE		6	6p21.3	TNF	31651328	31654091	n	Wand XY 2001	11640949	TNFA- 308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Finnish Nonagenarians		KGB	7124	Hs.241570			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			191160	5995	1	2001		Case:250; Control:400										
136520	Y	Obesity ?????????	METABOLIC	MET	Hypertension|Obesity	6	6p21.3	TNF	31651328	31654091	p=0.006	Pausova Z 2000	10904006				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	French Canadians		TJB	7124	Hs.241570			Hypertension. 2000 Jul;36(1):14-9			191160	5996	1	2000												
136521	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091	2.4e-08	Arias A 1997	9395887	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Experimental and clinical immunogenetics. 1997 ;14(2):118-22			191160	5997	1	1997												
136513		Severe sepsis after trauma	OTHER	OTH	Sepsis|Wounds and Injuries	6	6p21.3	TNF	31651328	31654091	OR=4.6	O`Keefe GE 2002	11988644	TNFA-308 (A allele)			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Trauma pts		KGB	7124	Hs.241570			The Journal of trauma. 2002 May;52(5):817-25; discussion 825-6			191160	5989	1	2002	 The A-allele at the -308 position in the tumor necrosis factor-alpha promoter increases the risk for severe sepsis and possibly for death after trauma.											
136514	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091	1.64e-07	Arias A 1997	9395887	-238 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Experimental and clinical immunogenetics. 1997 ;14(2):118-22			191160	5990	1	1997												
136515	Y	malaria	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Knight JC et al. 1999	10369255			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Kenya|Gambia	KGB	7124	Hs.241570			Nature genetics. 1999 Jun;22(2):145-50	A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria.		191160	5991	1	1999												
136516	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	P=0.04	Witte JS 2002	11896460	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KCB	7124	Hs.241570			European journal of human genetics. 2002 Jan;10(1):82-5			191160	5992	1	2002												
136509	Y	chronic active hepatitis C infection.	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	TNF	31651328	31654091		Hohler T et al. 1998	9515764			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of medical virology. 1998 Mar;54(3):173-7	Tumor necrosis factor alpha promoter polymorphism at position -238 is associated with chronic active hepatitis C infection.		191160	5985	1	1998												
136510	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Wilson AG et al. 1995	7668906				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Annals of the rheumatic diseases. 1995 Jul;54(7):601-3	A tumour necrosis factor alpha polymorphism is not associated with rheumatoid arthritis.		191160	5986	1	1995												
136511	N	severe preeclampsia	OTHER	OTH	Pre-Eclampsia	6	6p21.3	TNF	31651328	31654091	n	Livingston JC et al. 2001	11349201				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of obstetrics and gynecology. 2001 May;184(6):1273-7	Lack of association of severe preeclampsia with maternal and fetal mutant alleles for tumor necrosis factor alpha and lymphotoxin alpha genes and plasma tumor necrosis factor alpha levels.		191160	5987	1	2001	 Neither the genotypic frequencies for tumor necrosis factor alpha mutant alleles nor maternal tumor necrosis factor alpha plasma levels were increased in patients with severe preeclampsia.											
136505	Y	mucocutaneous leishmaniasis	INFECTION	INF	Leishmaniasis, Mucocutaneous|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cabrera M et al. 1995	7595196				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Venezuela	KGB	7124	Hs.241570			The Journal of experimental medicine. 1995 Nov;182(5):1259-64	Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis.		191160	5981	1	1995												
136507	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	TNF	31651328	31654091		Hjelmstrom P et al. 1998	9688335				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of neuroimmunology. 1998 Aug;88(2-Jan):137-43	Polymorphism in tumor necrosis factor genes associated with myasthenia gravis.		191160	5983	1	1998												
136508	Y	dermatitis herpetiformis.	IMMUNE	IMM	Dermatitis Herpetiformis	6	6p21.3	TNF	31651328	31654091		Wilson AG et al. 1995	7738367				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of investigative dermatology. 1995 May;104(5):856-8	Comparative genetic association of human leukocyte antigen class II and tumor necrosis factor-alpha with dermatitis herpetiformis.		191160	5984	1	1995												
136501	Y	HIV disease	INFECTION	INF	HIV Infections|Disease Progression	6	6p21.3	TNF	31651328	31654091		Khoo SH et al. 1997	9084788				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			AIDS (London, England). 1997 Mar;11(4):423-8	Tumour necrosis factor c2 microsatellite allele is associated with the rate of HIV disease progression.		191160	5977	1	1997	 This is the first report demonstrating a strong association between the TNF c2 allele and the rate of HIV progression. Although it is possible that this finding may have arisen as a result of linkage disequilibrium with other alleles within the major histocompatibility complex that exert a more powerful effect upon progression, evidence is mounting to suggest that both TNF-alpha and lymphotoxin are closely involved in HIV disease progression and CD4 depletion. Our results serve to highlight the potential importance of genetic polymorphism, particularly of the TNF locus, in influencing the progression of HIV infection.											
136503	Y	irritant contact dermatitis	OTHER	OTH	Dermatitis, Irritant|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Allen MH et al. 2000	10752629				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Immunogenetics. 2000 Mar;51(3):201-5	Association of TNFA gene polymorphism at position -308 with susceptibility to irritant contact dermatitis.		191160	5979	1	2000												
136504	N	early onset psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091	n	Jacob N et al. 1999	10201539			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of investigative dermatology. 1999 Apr;112(4):514-6	Promoter polymorphism at -238 of the tumor necrosis factor alpha gene is not associated with early onset psoriasis when tested by the transmission disequilibrium test.		191160	5980	1	1999												
136498	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		van Krugten MV et al. 1999	11196668	489			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Genes and immunity. 1999 Nov;1(2):91-6	Association of the TNF +489 polymorphism with susceptibility and radiographic damage in rheumatoid arthritis.		191160	5974	1	1999												
136499	Y	primary sclerosing cholangitis	OTHER	OTH	Cholangitis, Sclerosing	6	6p21.3	TNF	31651328	31654091		Bernal W et al. 1999	10068102				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of hepatology. 1999 Feb;30(2):237-41	Association of tumor necrosis factor polymorphism with primary sclerosing cholangitis.		191160	5975	1	1999	 HLA-encoded genetic susceptibility to primary sclerosing cholangitis may be determined by polymorphism within the HLA class III region, in particular with the TNF2 allele.											
136500	N	sepsis	INFECTION	INF	Sepsis	6	6p21.3	TNF	31651328	31654091	n	Stuber F et al. 1995	8832971			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of inflammation. 1995 ;46(1):42-50	-308 tumor necrosis factor (TNF) polymorphism is not associated with survival in severe sepsis and is unrelated to lipopolysaccharide inducibility of the human TNF promoter.		191160	5976	1	1995	We conclude that  the functional consequence of the -308 polymorphism may be unrelated to transcriptional response of the TNF gene to bacterial endotoxin.											
136493	Y	Leishmania chagasi infection	INFECTION	INF	Leishmaniasis, Visceral|Hypersensitivity, Delayed|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Karplus TM et al. 2002	12438370				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Infection and immunity. 2002 Dec;70(12):6919-25	Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection.		191160	5969	1	2002												
136494	Y	contact hypersensitivity	IMMUNE	IMM	Dermatitis, Contact	6	6p21.3	TNF	31651328	31654091		Niizeki H et al. 2001	11929587				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Tissue antigens. 2001 Dec;58(6):369-78	Polymorphisms in the tumor necrosis factor (TNF) genes are associated with susceptibility to effects of ultraviolet-B radiation on induction of contact hypersensitivity.		191160	5970	1	2001												
136495	Y	ulcerative colitis and Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	6	6p21.3	TNF	31651328	31654091		Sashio H et al. 2002	11904678				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Immunogenetics. 2002 Mar;53(12):1020-7	Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease respectively.		191160	5971	1	2002	This study suggests that one of the genes responsible for UC may be the TNF gene, or an adjacent gene, and that TNFRSF1B gene polymorphisms contribute greatly to the increased onset risk of CD and to the disease behavior.	Case:106 patients with ulcerative colitis;Control:111 unrelated healthy controls;Case:124 patients with Crohn's disease										
136490	Y	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	6	6p21.3	TNF	31651328	31654091		van Heel DA et al. 2002	12019209				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Human molecular genetics. 2002 May;11(11):1281-9	Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.		191160	5966	1	2002	We show the transcription factor OCT1 binds TNF(-857T) but not TNF(-857C), and interacts in vitro and in vivo with the pro-inflammatory NF(-kappa)B transcription factor p65 subunit at an adjacent binding site.											
136491		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	TNF	31651328	31654091		Polvi A et al. 1998	9672155				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Finnish	Finland	KGB	7124	Hs.241570			Tissue antigens. 1998 May;51(5):553-5	TNF microsatellite alleles a2 and b3 are not primarily associated with celiac disease in the Finnish population.		191160	5967	1	1998												
136492	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	TNF	31651328	31654091		Collins JS et al. 2000	11121190				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		United States	KGB	7124	Hs.241570			American journal of medical genetics. 2000 Dec;96(6):823-30	Association of a haplotype for tumor necrosis factor in siblings with late-onset Alzheimer disease: the NIMH Alzheimer Disease Genetics Initiative.		191160	5968	1	2000												
136486	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TNF	31651328	31654091	n	Shibue T et al. 2000	10765919	-1031T/-863C/-857T	higher promoter activity	5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	Tsuchiya N	7124	Hs.241570			Arthritis and rheumatism. 2000 Apr;43(4):753-7			191160	5962	1	2000	 Among the 3 genes examined in this study, HLA-DRB1 was considered to be most strongly associated with RA.	Case:545; Control:265										
136487	Y	emphysema	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Ferrarotti I 2003	12661999				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KEW	7124	Hs.241570			The European respiratory journal. 2003 Mar;21(3):444-9	Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.		191160	5963	1	2003	No significant deviations were found concerning the four polymorphisms studied between the two populations. The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease.	Case:63 chronic obstructive pulmonary disease patients;Control:86 healthy smokers										
136488	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Tsuchiya N et al.2001	11607787			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian	United States	Tsuchiya N	7124	Hs.241570			Genes and immunity. 2001 Oct;2(6):317-22			191160	5964	1	2001												
136483	Y	synthetic hemodialysis graft failure	OTHER	OTH	Kidney Failure, Chronic	6	6p21.3	TNF	31651328	31654091		Ram S 2003	12580317	TNF-alpha-308 allele			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	patients with synthetic polytetrrafluoroethylene grafts		KEW	7124	Hs.241570			Journal of investigative medicine. 2003 Feb;51(1):19-26			191160	5959	1	2003	 These data suggest that the TNF-alpha -308 A allele is associated with increased PTFE graft thrombosis and failure in hemodialysis patients.											
136484	N	narcolepsy	IMMUNE	IMM	Narcolepsy	6	6p21.3	TNF	31651328	31654091	n	Wieczorek S 2003	12601524	196R allele			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	German	Germany	KEW	7124	Hs.241570			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):87-90	Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in German patients		191160	5960	1	2003	In summary, our data do not provide evidence that TNFR genes are etiologically important for narcoleptic symptoms in German patients. In addition, our resutls provide further evidence for genetic heterogeneity among narcolepsy populations of different ethnic origin.	Case:100/93 German Caucasian unrelated patients with narcolepsy tested for TNFRSF1A (n=100) and for TNFRSF1B (n=93):Germany;Control:93/94 controls tested for TNFRSF1A (n=93) and for:TNFRSF1B (n=94)										
136485	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6p21.3	TNF	31651328	31654091	n	Buckova D 2002	12530118	TNF-alpha*2 allele			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Czech	Czech Republic	KEW	7124	Hs.241570	atopic diseases		Journal of investigational allergology & clinical immunology. 2002 ;12(3):192-7			191160	5961	1	2002	We conclude that  these polymorphisms of the TNF genes are unlikely to contribute to atopic disease risk in our population. Significant associations that have been reported in other studies may reflect the genetic heterogeneity of these complex diseases.	Case:151; Control:155										
136478		septic shock susceptibility & mortality	IMMUNE	IMM	Shock, Septic|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091	0.002. 0.008	Mira JP 1999	10450718	TNF2 allele			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	89 SS pts		KGB	7124	Hs.241570			JAMA. 1999 Aug;282(6):561-8			191160	5954	1	1999	 The TNF2 allele is strongly associated with susceptibility to septic shock and death due to septic shock.											
136479		community-acquired pneumonia (CAP)	INFECTION	INF	Sepsis|Disease Progression	6	6p21.3	TNF	31651328	31654091	NS	Weitkamp JH 2000	10782394				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Infection. 2000 Mar-Apr;28(2):92-6			191160	5955	1	2000												
136480	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091	0.0042	Boin F 2000	11244489				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Molecular psychiatry. 2001 Jan;6(1):79-82			191160	5956	1	2000												
136481	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	0.003	Albuquerque R 1998	9645594	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Australia	KCB	7124	Hs.241570			Clinical and experimental allergy. 1998 May;28(5):578-84			191160	5957	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
136476	Y	lep. Leprosy	IMMUNE	IMM	Leprosy, Lepromatous|Leprosy, Tuberculoid|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091	0.02	Roy S 1997	9237725	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of infectious diseases. 1997 Aug;176(2):530-2			191160	5952	1	1997												
136477		community-acquired pneumonia (CAP)	INFECTION	INF	Pneumonia, Bacterial|Community-Acquired Infections|Shock, Septic|Respiratory Insufficiency	6	6p21.3	TNF	31651328	31654091	haplotype only	Waterer G 2001	11401880	TNFA-308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	31 SS pts		KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2001 Jun;163(7):1599-604			191160	5953	1	2001												
136469		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Winchester EC 2000	11153913	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Asia|Great Britain	KCB	7124	Hs.241570			Human genetics. 2000 Dec;107(6):591-6			191160	5945	1	2000												
136470		Asthma	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Trabetti 1999	10227402	TNF-308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KCB	7124	Hs.241570			Journal of medical genetics. 1999 Apr;36(4):323-5			191160	5946	1	1999												
136472	Y	Silicosis	IMMUNE	IMM	Silicosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	0.05	Yucesoy B 2001	11264025	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		United States	KGB	7124	Hs.241570			Toxicology and applied pharmacology. 2001 Apr;172(1):75-82			191160	5948	1	2001												
136473		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Castro J 2000	10923589	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Spain	KCB	7124	Hs.241570			Journal of investigational allergology & clinical immunology. 2000 May-Jun;10(3):149-54			191160	5949	1	2000												
136464	N	Asthma. rhinitis	IMMUNE	IMM	Bronchiectasis|Lung Diseases, Obstructive	6	6p21.3	TNF	31651328	31654091	n	Patuzzo C 2000	10807822	TNF-308*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		KCB	7124	Hs.241570			Chest. 2000 May;117(5):1353-8			191160	5940	1	2000	 We conclude that the TNF gene complex, at least in Caucasoid individuals and for the considered polymorphisms, does not seem to play a major role as genetic risk factor in COPD and bronchiectasis.											
136465		COPD	OTHER	OTH	Lung Diseases, Obstructive|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Sakao S 2001	11179116				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2001 Feb;163(2):420-2			191160	5941	1	2001												
136467		Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	6	6p21.3	TNF	31651328	31654091		Chagani T 1999	10390412	TNF-308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KCB	7124	Hs.241570			American journal of respiratory and critical care medicine. 1999 Jul;160(1):278-82			191160	5943	1	1999	We conclude that  the TNF-alpha -308 polymorphism may be a risk factor for asthma but does not increase the risk of a fatal or a near-fatal asthma attack, whereas the ACE polymorphism is not associated with asthma in this population.											
136468		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Castro J 2000	10923589	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Spain	KCB	7124	Hs.241570			Journal of investigational allergology & clinical immunology. 2000 May-Jun;10(3):149-54			191160	5944	1	2000												
136459	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Ober C 2000	11022011	GT repeat 250 kb upstream of LTA			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Hutterites	South Dakota	KCB	7124	Hs.241570			American journal of human genetics. 2000 Nov;67(5):1154-62			191160	5935	1	2000												
136461		Bronchial hyperreactivity	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Li Kam Wa TC 1999	10469028	TNF-308*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		KGB	7124	Hs.241570			Clinical and experimental allergy. 1999 Sep;29(9):1204-8			191160	5937	1	1999	 We conclude that the -308 TNF2 promoter polymorphism may form a component of the genetic predisposition to BHR in asthma.											
136462		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Hayden 1998	9645594	TNF-308*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Australia	KCB	7124	Hs.241570			Clinical and experimental allergy. 1998 May;28(5):578-84			191160	5938	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
136463	N	Atopy	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	n	Tay 1999	10371104	TNF-308*1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Malaysia|Singapore	KGB	7124	Hs.241570			Allergy. 1999 Apr;54(4):402-3			191160	5939	1	1999												
136455	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Hakonarson H 2001	11739132	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Icelandic	Iceland	KCB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			191160	5931	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
136456	Y	Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	P=0.003	Albuquerque R 1998	9645594	TNF-308*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Australian	Australia	KCB	7124	Hs.241570			Clinical and experimental allergy. 1998 May;28(5):578-84			191160	5932	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
136457	Y	Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	P=0.003	Albuquerque R 1998	9645594	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Australia	KCB	7124	Hs.241570			Clinical and experimental allergy. 1998 May;28(5):578-84			191160	5933	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
136451	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091	n	Riedel M 2002	12451465	G308 polymorphism			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	recruits from N. Italy and S. Germany		KEW	7124	Hs.241570			European archives of psychiatry and clinical neuroscience. 2002 Oct;252(5):232-4	No association between the G308A polymorphism of the tumor necrosis factor-alpha gene and schizophrenia.		191160	5927	1	2002		Case:241; Control:324										
136452	N	Longevity	AGING	AGE		6	6p21.3	TNF	31651328	31654091	n	Wang XY 2001	11640949	308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Finnish		TJB	7124	Hs.241570			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			191160	5928	1	2001		Case:250; Control:400										
136453	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Tiret L 2000	10636255	G- 308A polymorphism			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			191160	5929	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
136454	N	Coronary Heart Disease and Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	6	6p21.3	TNF	31651328	31654091	n	Koch W 2001	11689215	TNF- alpha promoter polymorphisms -863C/A and 308G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Atherosclerosis. 2001 Nov;159(1):137-44			191160	5930	1	2001												
136447	N	Calcium Oxalate Stone and Bladder Cancer	CANCER	CAN	Urinary Bladder Neoplasms|Urinary Calculi|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	n	Tsai FJ 2001	11828995	Promoter -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Taiwan		KGB	7124	Hs.241570			Urological research. 2001 Dec;29(6):412-6			191160	5923	1	2001		Case:103; Control:150										
136448	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	P=0.04	Witte JS 2002	11896460	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	U.S.		KCB	7124	Hs.241570			European journal of human genetics. 2002 Jan;10(1):82-5			191160	5924	1	2002												
136449	Y	Primary Billiary Cirrosis	IMMUNE	IMM	Liver Cirrhosis, Biliary	6	6p21.3	TNF	31651328	31654091	0.02	Gordon M 1999	10453936	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of hepatology. 1999 Aug;31(2):242-7			191160	5925	1	1999	 Primary biliary cirrhosis is associated with reduced carriage of TNF*2. This is in keeping with a protective role of TNFalpha against the disease.											
136450	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	6	6p21.3	TNF	31651328	31654091	n	Zhu S 2000	10806171	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Asia	KCB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			191160	5926	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
136442	Y	chronic bronchitis	IMMUNE	IMM	Bronchitis|Chronic Disease	6	6p21.3	TNF	31651328	31654091	0.01	Huang S 1997	9372657	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 1997 Nov;156(5):1436-9			191160	5918	1	1997												
136444	Y	Sepsis	IMMUNE	IMM	Sepsis|Wounds, Nonpenetrating	6	6p21.3	TNF	31651328	31654091	0.007	Majetschak M 1999	10450735	G/A -308 TNF2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Annals of surgery. 1999 Aug;230(2):207-14			191160	5920	1	1999	 In multiply injured patients, the Nco1 polymorphism within the TNFbeta gene is associated with the development of severe posttraumatic sepsis and with increased TNFalpha serum levels when severe sepsis has occurred. This suggests a genetic determination of the individual inflammatory response after infection or tissue damage, which significantly influences susceptibility to severe nosocomial infections.											
136445	Y	Psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TNF	31651328	31654091		Reich K 1999	10469306	``-238*A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		TJB	7124	Hs.241570			The Journal of investigative dermatology. 1999 Aug;113(2):214-20			191160	5921	1	1999		Case:151; Control:123										
136446		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091		Winchester EC 2000	11153913	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Asia|Great Britain	KCB	7124	Hs.241570			Human genetics. 2000 Dec;107(6):591-6			191160	5922	1	2000												
136438	Y	deafness, nonsyndromic	OTHER	OTH	Deafness|Syndrome	21	21q22.3	TMPRSS3	42665067	42689269		Wattenhofer, M.  et al. 2002	11907649				Transmembrane protease, serine 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024022.1	Caucasian		CDC GDPinfo	64699	Hs.208600			Journal of molecular medicine (Berlin, Germany). 2002 Feb;80(2):124-31	Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.		605511	19890	2	2002	From this and another study we estimate the frequency of TMPRSS3 mutations in our sample as 0.45%, and approximately 0.38% in the general Caucasian childhood deaf population. However, TMPRSS3 is still an important contributor to genetic deafness in populations with large consanguineous families.	Cohort 448 unrelated deaf patients who did not have the common 35delG GJB2 mutation Spain, Italy, Greece, and Australia 										
136440	Y	achilles tendon injuries	UNKNOWN	UNK	Rupture|Genetic Predisposition to Disease	9	9q33	TNC	116822633	116920260		Mokone, G. G.  et al. 2005	15983124				Tenascin C (hexabrachion)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002160.1			CDC GDPinfo	3371	Hs.143250			The American journal of sports medicine. 2005 Jul;33(7):1016-21	The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries.		187380	14331	2	2005	 The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injury. Alleles containing 12 and 14 guanine-thymine repeats were overrepresented in subjects with tendon injuries, while the alleles containing 13 and 17 repeats were underrepresented. CLINICAL RELEVANCE: Persons who have variants of the tenascin-C gene with 12 and 14 guanine-thymine repeats appear to have a 6-fold risk of developing Achilles tendon injuries.											
136441		asthma	IMMUNE	IMM	Asthma	9	9q33	TNC	116822633	116920260			16115819				Tenascin C (hexabrachion)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002160.1		Japan	CDC GDPinfo	3371	Hs.143250			Human molecular genetics. 2005 Oct;14(19):2779-86	Coding SNP in tenascin-C Fn-III-D domain associates with adult asthma		187380	19891	2	2005												
136435	N	asthma	IMMUNE	IMM	Asthma	3	3p21.3	TLR9	52230137	52248223		Noguchi, E.  et al. 2004	14987294				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Japanese	Japan	CDC GDPinfo	54106	Hs.87968			Clinical and experimental allergy. 2004 Feb;34(2):177-83	An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population		605474	26667	2	2004	 Our results indicate that polymorphisms in TLRs are not likely to be associated with the development of atopy-related phenotypes in a Japanese population.	Cohort 32 asthmatics Japan 										
136436		SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death	5	5q35.1	TLX3	170668892	170671743		Weese-Mayer, D. E.  et al. 2004	15240857				T-cell leukemia, homeobox 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021025.2			CDC GDPinfo	30012	Hs.249125			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		604640	28117	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
136437		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	21	21q22.3	TMPRSS2	41758350	41801948		Lubieniecka, J. M.  et al. 2004	15065083	Met160Val			Transmembrane protease, serine 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005656.2			CDC GDPinfo	7113	Hs.439309			The Prostate. 2004 Jun;59(4):357-9	Met160Val polymorphism in the TRMPSS2 gene and risk of prostate cancer in a population-based case-control study.		602060	14330	2	2004	 Larger, more detailed studies are needed to fully investigate the role of serine proteases in PCa.	Control:523 controls from a population-based case-control study of middle-aged men;Case:559 prostate cancer cases:Washington, US										
136430	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Hur, J. W.  et al. 2005	15730519				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Korean	Korea	CDC GDPinfo	54106	Hs.87968			Tissue antigens. 2005 Mar;65(3):266-70	Association study of Toll-like receptor 9 gene polymorphism in Korean patients with systemic lupus erythematosus.		605474	14326	2	2005	TLR9 gene polymorphisms were not significantly associated with the susceptibility to SLE and related phenotypes.	Control:330:controls;Case:350 Korean systemic lupus patients										
136431		cirrhosis, biliary primary	OTHER	OTH	Liver Cirrhosis, Biliary	3	3p21.3	TLR9	52230137	52248223		Kikuchi, K.  et al. 2005	15878652				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDPinfo	54106	Hs.87968			Journal of autoimmunity. 2005 Jun;24(4):347-52	Genetic polymorphisms of toll-like receptor 9 influence the immune response to CpG and contribute to hyper-IgM in primary biliary cirrhosis		605474	14327	2	2005	Our data emphasize the importance of dissecting the innate immune response in PBC.	Case patients with primary biliary cirrhosis;Control:controls										
136432		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Atherosclerosis	3	3p21.3	TLR9	52230137	52248223		Hamann, L.  et al. 2005	16125159				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDPinfo	54106	Hs.87968			Clinica chimica acta; international journal of clinical chemistry. 2006 Feb;364(2-Jan):303-7	Toll-like receptor (TLR)-9 promotor polymorphisms and atherosclerosis.		605474	14328	2	2005	 Our data indicate that the two TLR-9 promotor polymorphisms are not involved in atherogenesis.											
136433		atopy	IMMUNE	IMM	Hypersensitivity|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Berghofer, B.  et al. 2005	16164440				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDPinfo	54106	Hs.87968			Clinical and experimental allergy. 2005 Sep;35(9):1147-54	Common human Toll-like receptor 9 polymorphisms and haplotypes: association with atopy and functionalrelevance.		605474	14329	2	2005	 We conclude that common genetic differences in the TLR9 gene exert no major influence on allergy susceptibility, and are unlikely to have on impact on clinical application of CpG-ODNs.											
136426	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555		Sun, J.  et al. 2005	15812078				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807		Sweden	CDC GDPinfo	10333	Hs.366986			Journal of the National Cancer Institute. 2005 Apr;97(7):525-32	Sequence variants in Toll-like receptor gene cluster (TLR6-TLR1-TLR10) and prostate cancer risk.		605403	25661	2	2005	 The observed multiple associated SNPs at the TLR6-TLR1-TLR10 gene cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. The TLR6-TLR1-TLR10 gene cluster may play a role in prostate cancer risk, although further functional studies are needed to pinpoint the disease-associated variants in this gene cluster.	Case:1,383 prostate cancer cases:Sweden;Control:780:controls										
136427		Lyme disease	INFECTION	INF	Lyme Disease|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555		Schroder, N. W.  et al. 2005	16081826				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDPinfo	10333	Hs.366986			Journal of immunology (Baltimore, Md :  1950). 2005 Aug;175(4):2534-40	Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease.		605403	25662	2	2005												
136429		myocardial infarct; asthma; thromboembolism, venous; chronic obstructive pulmonary disease/COPD	CARDIOVASCULAR	CARD		3	3p21.3	TLR9	52230137	52248223		Lazarus, R.  et al. 2003	12573264				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	African American		CDC GDPinfo	54106	Hs.87968			Genomics. 2003 Jan;81(1):85-91	Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwiselinkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies.		605474	14325	2	2003	This study suggests that there is substantial diversity in human TLR9, possibly associated with asthma in Europeans but not African Americans. No association was detected with three other diseases potentially related to innate immunity.	Case individuals from 5 exploratory nested case-control:studies;Control individuals from 5 exploratory nested case-control:studies:Cohort:71 subjects from three self-identified U.S. ethnic:groups										
136423		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease|Inflammation	1	1q41-q42	TLR5	221350206	221383247		Xu, J.  et al. 2005	16284379				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3			CDC GDPinfo	7100	Hs.135853			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2563-8	The interaction of four genes in the inflammation pathway significantly predicts prostate cancer risk.		603031	26666	2	2005												
136424		asthma; dermatitis, atopic; chronic obstructive pulmonary disease	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive|Dermatitis, Atopic|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555		Hoffjan, S.  et al. 2005	16188043	Ser249Pro			Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDPinfo	10333	Hs.366986			BMC medical genetics [electronic resource]. 2005 Sep;6:34	Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease.		605403	14323	2	2005	 Variation in TLR6 might play a role in the pathogenesis of childhood asthma.											
136425		asthma	IMMUNE	IMM	Asthma	4	4p14	TLR6	38504802	38507555		Tantisira, K.  et al. 2004	15266299				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDPinfo	10333	Hs.366986			Genes and immunity. 2004 Aug;5(5):343-6	Toll-like receptor 6 gene (TLR6): single-nucleotidepolymorphism frequencies and preliminary association with the diagnosis of asthma.		605403	19888	2	2004	Although replication of this finding in other, larger samples is needed, variation in TLR6 may have relevance to the pathogenesis of immunologically mediated diseases.	Case:56 African American asthma cases;Control:93 African American controls										
136418		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		9	9q32-q33	TLR4	119506430	119519587		Nguyen, D. P.  et al. 2004	15292002				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		603030	27853	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
136419		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		Lehrnbecher, T.  et al. 2005	16107886				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		603030	27854	2	2005												
136421	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247		Hawn, T. R.  et al. 2005	16027372				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3			CDC GDPinfo	7100	Hs.135853			Proceedings of the National Academy of Sciences of the United States of America. 2005 Jul;102(30):10593-7	A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.		603031	14321	2	2005												
136415		sepsis	INFECTION	INF	Sepsis	9	9q32-q33	TLR4	119506430	119519587		Ahrens, P.  et al. 2004	14739370				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Pediatric research. 2004 Apr;55(4):652-6	Mutations of Genes Involved in the Innate Immune System as Predictors of Sepsis in Very Low Birth Weight Infants		603030	27250	2	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants 										
136416		preterm delivery	REPRODUCTION	REP	Premature Birth	9	9q32-q33	TLR4	119506430	119519587		Hartel, C.  et al. 2004	15516360				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Molecular human reproduction. 2004 Dec;10(12):911-5	Polymorphisms of genes involved in innate immunity:association with preterm delivery		603030	27251	2	2004	The overall influence of the investigated polymorphisms on the development of preterm delivery seems moderate, since only the maternal IL6-174G genotype was associated with preterm birth and none of the polymorphisms were associated with intrauterine infection as the cause of preterm birth.	Control:491 term-born infants;Case:909 preterm very-low-birth-weight infants										
136417		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	9	9q32-q33	TLR4	119506430	119519587		Freeman, B. D.  et al. 2002	12411588				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		603030	27642	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
136411	Y	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587	0.0103	Barber, R. C.  et al. 2004	15520404			coding sequence	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of medical genetics. 2004 Nov;41(11):808-13	TLR4 and TNF-alpha polymorphisms are associated with an increased risk for severe sepsis following burn injury.	rs4986790	603030	26662	2	2004	 The TLR4 +896 and TNF-alpha -308 polymorphisms were significantly associated with an increased risk for severe sepsis following burn trauma.	Cohort 159 patients with burns >/=20% of their total body surface area or any smoke inhalation injury without significant non-burn related trauma or spinal cord injury, and survived >48 h post-admission 										
136412		appendicitis	INFECTION	INF	Appendicitis|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		Rivera-Chavez, F. A.  et al. 2004	15273551				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Annals of surgery. 2004 Aug;240(2):269-77	Innate immunity genes influence the severity of acute appendicitis.		603030	26663	2	2004	 Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.	Cohort 134 patients with acute appendicitis treated at an urban hospital 										
136413		periodontal disease	IMMUNE	IMM	Periodontitis|Inflammation	9	9q32-q33	TLR4	119506430	119519587		D'Aiuto, F.  et al. 2004	15341923				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Cytokine. 2004 Oct;28(1):29-34	Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections		603030	26664	2	2004	These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.	Cohort 94 subjects with periodontitis 										
136407		sepsis	INFECTION	INF	Sepsis|Critical Illness	9	9q32-q33	TLR4	119506430	119519587		Nakada, T. A.  et al. 2005	16051275				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Japanese	Japan	CDC GDPinfo	7099	Hs.174312			The Journal of surgical research. 2005 Dec;129(2):322-8	Influence of Toll-like Receptor 4, CD14, Tumor Necrosis Factor, and Interleukine-10 Gene Polymorphisms on Clinical Outcome in Japanese Critically Ill Patients.		603030	25657	2	2005												
136409		filiariasis	INFECTION	INF	Elephantiasis, Filarial|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Hise, A. G.  et al. 2003	14551607				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Genes and immunity. 2003 Oct;4(7):524-7	Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis		603030	25659	2	2003	These results indicate that a CHIT1 genotype associated previously with susceptibility to filariasis in residents of southern India and TLR2 and TLR4 polymorphisms do not correlate with infection status or disease phenotype in this Melanesian population.	Cohort 906 residents of an area of Papua New Guinea where bancroftian filariasis is endemic Papua New Guinea 										
136410	N	asthma	IMMUNE	IMM	Asthma	9	9q32-q33	TLR4	119506430	119519587		Noguchi, E.  et al. 2004	14987294				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Japanese	Japan	CDC GDPinfo	7099	Hs.174312			Clinical and experimental allergy. 2004 Feb;34(2):177-83	An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population		603030	25660	2	2004	 Our results indicate that polymorphisms in TLRs are not likely to be associated with the development of atopy-related phenotypes in a Japanese population.	Cohort 32 asthmatics Japan 										
136404		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Gazouli, M.  et al. 2005	15655821				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Greek	Greece	CDC GDPinfo	7099	Hs.174312			World journal of gastroenterology. 2005 Feb;11(5):681-5	Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population		603030	25654	2	2005	 Our results indicate that co-existence of a mutation in either the TLR4 or CD14 gene, and in NOD2/CARD15 is associated with an increased susceptibility to developing CD compared to UC, and to developing either CD or UC compared to healthy individuals.	Control:100 healthy individuals;Case:120/85 Greek patietns with Crohn's disease (n=120) and ulcerative colitis (n=85)										
136405		necrotizing enterocolitis	INFECTION	INF	Enterocolitis, Necrotizing|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16385250				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of pediatric gastroenterology and nutrition. 2006 Jan;42(1):27-31	Genetic Polymorphisms of CD14, Toll-like Receptor 4, and Caspase-Recruitment Domain 15 Are Not Associated with Necrotizing Enterocolitis in Very Low Birth Weight Infants		603030	25655	2	2006	 Carrier state of the tested CD14, TLR4, and CARD15 SNPs is not associated with NEC risk in VLBW infants.											
136406		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Arnott, I. D.  et al. 2004	15190267				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Irish	Scotland|Ireland	CDC GDPinfo	7099	Hs.174312			Genes and immunity. 2004 Aug;5(5):417-25	NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence forgenetic heterogeneity within Europe?		603030	25656	2	2004	In conclusion, we present compelling evidence for genetic heterogeneity within Europe. These NOD2/CARD15 variants have a minor contribution in Scottish and Irish CD patients, consistent with an emerging pattern from Northern Europe.Genes and Immunity advance online publication, 10 June 2004;	Control:304:controls;Case:612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD:Scotland, Ireland										
136401		asthma; allergic rhinitis; atopic dermatitis	IMMUNE	IMM	Asthma|Hypersensitivity	9	9q32-q33	TLR4	119506430	119519587		Eder, W.  et al. 2004	15007351				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	European	Austria|Germany	CDC GDPinfo	7099	Hs.174312			The Journal of allergy and clinical immunology. 2004 Mar;113(3):482-8	Toll-like receptor 2 as a major gene for asthma in children of European farmers.		603030	23680	2	2004	 Our results suggest that genetic variation in TLR2 is a major determinant of the susceptibility to asthma and allergies in children of farmers.	Cohort nonfarmers' children living in rural areas Cohort farmers' children living in rural areas Austria and Germany 										
136402		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16371473				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	African children		CDC GDPinfo	7099	Hs.174312			Proceedings of the National Academy of Sciences of the United States of America. 2006 Jan;103(1):177-82	Toll-like receptor (TLR) polymorphisms in African children: Common TLR-4 variants predispose tosevere malaria		603030	23681	2	2005												
136403		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Zareparsi, S.  et al. 2005	15829498				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Human molecular genetics. 2005 Jun;14(11):1449-55	Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.		603030	25653	2	2005	The APOE4 is a risk factor and demonstrated a dose-dependent effect while APOE2 allele conferred a protection to AD. The MTHFR mutation had no correlation with AD.	Control:439 unrelated controls, all of Caucasian ancestry;Case:667 unrelated age-related macular degeneration patients										
136396		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Sackesen, C.  et al. 2005	16266379				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Turkish	Turkey	CDC GDPinfo	7099	Hs.174312			Allergy. 2005 Dec;60(12):1485-92	The effect of polymorphisms at the CD14 promoter and the TLR4 gene on asthma phenotypes in Turkish children with asthma.		603030	23675	2	2005	 Our study demonstrates that the CD14-C159T promoter variant influences total IgE levels and also indicates that the T allele has a more profound effect on total IgE in children with atopic asthma. Polymorphisms in the TLR4 gene may be associated with milder forms of disease in atopic asthmatics in the population studied.											
136397	Y	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	9	9q32-q33	TLR4	119506430	119519587		Tal, G.  et al. 2004	15143473				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of infectious diseases. 2004 Jun;189(11):2057-63	Association between common Toll-like receptor 4 mutations and severe respiratory syncytial virus disease.		603030	23676	2	2004	 These findings suggest that TLR4 mutations, but not the CD14/-159 polymorphism, are associated with an increased risk of severe RSV bronchiolitis in previously healthy infants.	Control:82/90 ambulatory infants with mild RSV bronchiolitis (n=82) and healthy adults (n=90);Case:99 infants hospitalized with severe RSV bronchiolitis										
136399	N	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Sanchez, E.  et al. 2004	14651524				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Tissue antigens. 2004 Jan;63(1):54-7	Polymorphisms of toll-like receptor 2 and 4 genes in rheumatoid arthritis and systemic lupus erythematosus.		603030	23678	2	2004	In conclusion, a case-control study was used to analyze, for the first time, the influence of TLR2 and TLR4 gene polymorphism on the predisposition and clinical characteristics of SLE and RA but provided no evidence for association of TLR2 or TLR4 gene polymorphism with either disease in the population under study.	Case:122/224 patients with systemic lupus erythematosus (n=122) and rheumatoid arthritis (n=224);Control:199 healthy individuals										
136392	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		van der Paardt, M.  et al. 2005	15647432				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Annals of the rheumatic diseases. 2005 Feb;64(2):235-8	No evidence for involvement of the Toll-like receptor 4 (TLR4) A896G and CD14-C260T polymorphisms in susceptibility to ankylosing spondylitis.		603030	23671	2	2005	 There is no evidence for involvement of the CD14 C-260T or TLR4 A896G polymorphisms in susceptibility to AS. An important role of bacteria and genetic predisposition of the innate immune system in cases of AS cannot be excluded by these findings. Therefore, studies of the surprisingly highly polymorphic candidate genes in this field should be continued.	Case:113 unrelated Caucasian Dutch ankylosing spondylitis:patients;Control:170 ethnically matched healthy controls										
136393		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	9	9q32-q33	TLR4	119506430	119519587		Guo, Q. S.  et al. 2005	16085746				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Chinese		CDC GDPinfo	7099	Hs.174312			Postgraduate medical journal. 2005 Aug;81(958):526-9	Polymorphisms of CD14 gene and TLR4 gene are not associated with ulcerative colitis in Chinese patients.		603030	23672	2	2005												
136395		periodontitis	IMMUNE	IMM	Periodontitis|Disease Susceptibility|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Laine, M. L.  et al. 2005	16246938				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of dental research. 2005 Nov;84(11):1042-6	CD14 and TLR4 Gene Polymorphisms in Adult Periodontitis.		603030	23674	2	2005	We conclude that  the CD14-260T/T genotype contributes to the susceptibility to severe periodontitis in Dutch Caucasians.											
136389	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Torok, H. P.  et al. 2004	15207785				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Clinical immunology (Orlando, Fla). 2004 Jul;112(1):85-91	Polymorphisms of the lipopolysaccharide-signaling complex in inflammatory bowel disease: associationof a mutation in the Toll-like receptor 4 gene with ulcerative colitis		603030	23668	2	2004	In conclusion, a novel association between a functional polymorphism in TLR4 and ulcerative colitis is reported. This observation underscores the importance of impaired innate immunity in inflammatory bowel disease.	Case:102/98 patients with Crohn's disease (N=102) and patients with ulcerative colitis (n=98);Control:145 healthy controls										
136390	Y	asthma	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Conjunctivitis, Allergic|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Fageras Bottcher, M.  et al. 2004	15356557				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Swedish	Sweden	CDC GDPinfo	7099	Hs.174312			The Journal of allergy and clinical immunology. 2004 Sep;114(3):561-7	A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children		603030	23669	2	2004	 A TLR4 polymorphism modifies innate immune responses in children and may be an important determinant for the development of asthma. This may influence the outcome of intervention studies that use microbial stimuli as immune modulators.	Cohort 115 Swedish children aged 8 and 14 years 										
136391		pulmonary function	CARDIOVASCULAR	CARD	Farmer's Lung|Airway Obstruction|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Levan, T. D.  et al. 2004	15591473				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			American journal of respiratory and critical care medicine. 2005 Apr;171(7):773-9	Polymorphisms in the CD14 gene associated with pulmonary function in farmers.		603030	23670	2	2004	 We conclude that the CD14/-159 or CD14/-1619 loci may play a role in modulating lung function and wheeze among agricultural workers.	Cohort 19/78/11/86 CD14/-159TT farmers (n = 19), farmers with the C allele (n = 78), farmers with the CD14/-1619GG genotype (n =11), farmers with the A allele (n = 86) 										
136386		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16393227				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Italian	Italy	CDC GDPinfo	7099	Hs.174312			The American journal of gastroenterology. 2005 Dec;100(12):2730-6	Intestinal permeability and genetic determinants in patients, first-degree relatives, and controls in a high-incidence area of Crohn's disease in southern Italy		603030	23665	2	2005	 There was no association between IP and genetic markers. Our findings showed a very high proportion of healthy first-degree relatives to bare alterations suggested to constitute determinants of CD. Mutations of NOD2/CARD15 or TLR-4, however, do not lead to permeability defects emphasizing the importance of additional environmental and/or genetic factors for pathogenesis.											
136387		gram-negative infection	INFECTION	INF	Gram-Negative Bacterial Infections|Disease Susceptibility|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Agnese, D. M.  et al. 2002	12404174				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of infectious diseases. 2002 Nov;186(10):1522-5	Human toll-like receptor 4 mutations but not CD14 polymorphisms are associated with an increased risk of gram-negative infections.		603030	23666	2	2002	These findings indicate that hTLR4 mutations are associated with an increased incidence of gram-negative infections in critically ill patients in a surgical setting.	Cohort 39 volunteers 										
136388	N	Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Campylobacter Infections|Guillain-Barre Syndrome|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Geleijns, K.  et al. 2004	15081257				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of neuroimmunology. 2004 May;150(2-Jan):132-8	Functional polymorphisms in LPS receptors CD14 and TLR4 are not associated with disease susceptibility or Campylobacter jejuni infection in Guillain-Barre patients		603030	23667	2	2004	Comparison of the genotypes of 242 GBS patients and 210 healthy subjects showed that polymorphisms in CD14 and TLR4 did not confer disease susceptibility and were not associated with C. jejuni infection.	Control:210 healthy subjects;Case:242 Guillain-Barre syndrome patients										
136383		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Pouchitis|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Meier, C. B.  et al. 2005	16239841				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Inflammatory bowel diseases. 2005 Nov;11(11):965-71	Innate immune receptor genetic polymorphisms in pouchitis: is CARD15 a susceptibility factor?		603030	23662	2	2005	 CARD15 polymorphisms are seen in greater frequency in patients with pouchitis after IPAA for UC. These findings, if borne out in prospective analyses, suggest that CARD15 mutations, particularly L1007fsinsC, may predispose to the development of pouchitis after IPAA for UC.											
136384		Crohn's disease	IMMUNE	IMM	Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Lakatos, P. L.  et al. 2005	15770725				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Hungary	CDC GDPinfo	7099	Hs.174312			World journal of gastroenterology. 2005 Mar;11(10):1489-95	Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease:phenotype-genotype correlations.		603030	23663	2	2005	 These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) alleles are associated with earlier disease onset, ileal disease, stricturing disease behavior in Hungarian CD patients. In contrast, although the frequency of TLR4 D299G polymorphism was not different from controls, NOD2/TLR4 mutation carriers tended to present at earlier age.	Control:200 healthy subjects;Case:527 unrelated patients with Crohn's disease										
136385		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Braat, H.  et al. 2005	16010583				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of molecular medicine (Berlin, Germany). 2005 Aug;83(8):601-9	Consequence of functional Nod2 and Tlr4 mutations on gene transcription in Crohn's disease patients.		603030	23664	2	2005												
136379	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16395111				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Pediatric infectious disease journal. 2006 Jan;25(1):80-1	Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy.		603030	19886	2	2006	We conclude that  TLR4 mutations represent a risk factor for meningococcal disease in this age group.											
136380	N	premature rupture of membranes	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Ferrand, P. E.  et al. 2002	12397216				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	African American	Pennsylvania|Michigan	CDC GDPinfo	7099	Hs.174312			Molecular human reproduction. 2002 Nov;8(11):1031-4	The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM).		603030	23659	2	2002	We conclude that  the CARD15 mutation and hyporesponsive TLR4 allele do not contribute to ethnic variation in the incidence of PPROM.	Case preterm premature rupture of membrane cases;Control:controls										
136381	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Bacterial Infections|Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Franchimont, D.  et al. 2004	15194649				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Gut. 2004 Jul;53(7):987-92	Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis.		603030	23660	2	2004	 We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. This finding further supports the genetic influence of PRRs in triggering IBD.	Cohort 114 Crohn's disease patients ;Control:140:controls;Case:163 ulcerative colitis patients:Cohort:334 Crohn's' disease patients										
136374	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Newport, M. J.  et al. 2004	15525557				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Gambian	Gambia	CDC GDPinfo	7099	Hs.174312			Tuberculosis (Edinburgh, Scotland). 2004 ;84(6):347-52	The toll-like receptor 4 Asp299Gly variant: noinfluence on LPS responsiveness or susceptibility to pulmonary tuberculosis in The Gambia.		603030	19875	2	2004	 Our data suggest that TLR4 Asp299Gly has no influence on monocyte LPS responses or susceptibility to TB in Gambians and could be an ancient neutral polymorphism.	Case tuberculosis cases The Gambia;Control:controls										
136375	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Disease Susceptibility|Genetic Predisposition to Disease|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Holloway, J. W.  et al. 2005	15864121				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Pharmacogenetics and genomics. 2005 Jan;15(1):15-21	Variation in the toll-like receptor 4 gene and susceptibility to myocardial infarction.		603030	19878	2	2005	These results are consistent with the notion that variation in the TLR4 gene contributes to inter-individual variability in susceptibility to coronary ischaemic events, and that TLR4 genotype and statin treatment may have a synergistic effect.	Cohort patients with angiographically documented coronary artery disease 										
136376	Y	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Oostenbrug, L. E.  et al. 2005	15905704				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Inflammatory bowel diseases. 2005 Jun;11(6):567-75	Association between Toll-like receptor 4 and inflammatory bowel disease.		603030	19879	2	2005	 Haplotype analysis shows that TLR4 is associated with both CD and UC. The Asp299Gly and Thr399Ile variants do not show an association with CD, UC, or IBD as a group, indicating that these polymorphisms are likely not the causal ones. We propose that the 2 polymorphisms are in linkage with (the) disease susceptibility variant(s) located elsewhere on TLR4.	Control:315:controls;Case:781 inflammatory bowel disease patients										
136371	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Zheng, S. L.  et al. 2004	15087412				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Cancer research. 2004 Apr;64(8):2918-22	Sequence variants of toll-like receptor 4 are associated with prostate cancer risk: results fromthe CAncer Prostate in Sweden Study.		603030	19872	2	2004	Although the biological mechanism of the observed association remains to be elucidated, our finding supports a role for a bacteria-associated response pathway, possibly acting via inflammation, in the development of prostate cancer.	Case:1,383 newly diagnosed prostate cancer patients:Sweden;Control:780 age- and residence-matched controls										
136372	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9q32-q33	TLR4	119506430	119519587		Edfeldt, K.  et al. 2004	15302104				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			European heart journal. 2004 Aug;25(16):1447-53	Association of hypo-responsive toll-like receptor 4 variants with risk of myocardial infarction.		603030	19873	2	2004	 The association found between TLR4 genotype and risk of MI suggests that TLR4 genetic variants could potentially affect the susceptibility to MI and that TLR4-mediated innate immunity is implicated in the pathogenesis of MI.	Case:1,213 survivors of a first myocardial infarction:Sweden;Control:1,561:controls										
136373	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Morange, P. E.  et al. 2004	15367917				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			European journal of human genetics. 2004 Dec;12(12):1041-9	TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study		603030	19874	2	2004	The TLR4/Asp299Gly and CD14/C-260T polymorphisms and plasma sCD14 concentrations do not appear as significant predictors of the risk of CHD in healthy individuals.	Case:249 participants who developed a CHD event during the 5-year follow-up from a prospective cohort (the PRIME Study) of 9758 healthy men aged 50-59 years France and Northern Ireland;Control:492 population- and age-matched control subjects										
136368	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Progression|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Boekholdt, S. M.  et al. 2003	12742999				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Circulation. 2003 May;107(19):2416-21	Variants of toll-like receptor 4 modify the efficacy of statin therapy and the risk of cardiovascular events.		603030	19867	2	2003	 Among symptomatic men with documented coronary artery disease, the TLR4 Asp299Gly polymorphism was associated with the risk of cardiovascular events. This variant also modified the efficacy of pravastatin in preventing cardiovascular events, such that carriers of the variant allele had significantly more benefit from pravastatin treatment.	Cohort 655 men with angiographically documented coronary atherosclerosis 	pravastatin									
136369		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease|Respiratory Sounds	9	9q32-q33	TLR4	119506430	119519587		Werner, M.  et al. 2003	12897738				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of allergy and clinical immunology. 2003 Aug;112(2):323-30	TLR4 gene variants modify endotoxin effects on asthma		603030	19868	2	2003	 The G299/I399 polymorphisms were associated with a modified response to endotoxin, but the functional relationship still needs clarification.	Cohort individuals from the European Community Respiratory Health Survey 										
136370	Y	diabetes, neurological manifestations	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	9	9q32-q33	TLR4	119506430	119519587		Rudofsky, G. = Jr et al. 2004	14693986				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Diabetes care. 2004 Jan;27(1):179-83	Asp299Gly and Thr399Ile Genotypes of the TLR4 Gene Are Associated With a Reduced Prevalence of Diabetic Neuropathy in Patients With Type 2 Diabetes		603030	19869	2	2004	 Our data indicate that Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with reduced prevalence of diabetic neuropathy in type 2, but not in type 1, diabetes. Thus different mechanisms may be involved in the pathophysiology of diabetic neuropathy in type 1 and type 2 diabetes.	Cohort 246/530 type 1 (n=246) and type 2 (n=530) diabetic patients 										
136365		Boutonneuse fever	OTHER	OTH	Boutonneuse Fever	9	9q32-q33	TLR4	119506430	119519587			16388712				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			International journal of immunopathology and pharmacology. 2005 Oct-Dec;18(4):655-60	Role of TLR4 receptor polymorphisms in Boutonneuse fever		603030	14320	2	2005												
136366	Y	graft-versus-host disease	IMMUNE	IMM	Bacteremia|Graft vs Host Disease	9	9q32-q33	TLR4	119506430	119519587		Lorenz, E.  et al. 2001	11529488				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Biology of blood and marrow transplantation. 2001 ;7(7):384-7	Association of TLR4 mutations and the risk for acute GVHD after HLA-matched-sibling hematopoietic stem cell transplantation.		603030	19865	2	2001	The data indicate that a reduced risk of acute GVHD is associated with TLR4 mutations and that TLR4 mutations may increase the risk for gram-negative bacteremia. However, these associations are not statistically significant in recipients of HLA-matched sibling marrow transplants who are prophylactically treated for infections and GVHD. A much larger study population would be needed to confirm the role of LPS in the pathogenesis of GVHD in humans.	237 patients with allogeneic marrow transplant recipients and HLA-identical sibling donors 										
136367	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	9	9q32-q33	TLR4	119506430	119519587		Reindl, M.  et al. 2003	12622779				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Tissue antigens. 2003 Jan;61(1):85-8	Mutations in the gene for toll-like receptor 4 and multiple sclerosis.		603030	19866	2	2003	Our data indicate that these TLR4 polymorphisms have no influence on the incidence, progression and inflammatory parameters of MS.	Case Austrian multiple sclerosis patients;Control age-matched controls										
136361	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	9	9q32-q33	TLR4	119506430	119519587		Kroner, A.  et al. 2005	15932772	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Germany	CDC GDPinfo	7099	Hs.174312			Journal of neuroimmunology. 2005 Aug;165(2-Jan):161-5	Impact of the Asp299Gly polymorphism in the toll-like receptor 4 (tlr-4) gene on disease course of multiple sclerosis.		603030	14313	2	2005	No association of different genotypes with MS susceptibility, MS subtypes, or disease severity was found. In vitro LPS stimulation studies showed a significantly lower proliferation of PBMCs from donors heterozygous for the Asp299Gly mutation in comparison to PBMCs from individuals with the wild-type genotype (p=0.01). However, these functional changes seem not to have any impact on the clinical presentation of MS patients with different TLR-4 genotypes.	Control:350 healthy controls;Case:890 multiple sclerosis patients										
136362		lymphoma	CANCER	CAN		9	9q32-q33	TLR4	119506430	119519587		Hellmig, S.  et al. 2005	16019531				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Leukemia & lymphoma. 2005 Jun;46(6):869-72	Association study of a functional Toll-like receptor 4 polymorphism with susceptibility to gastric mucosa-associated lymphoid tissue lymphoma.		603030	14315	2	2005												
136364		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16343635				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Iranian		CDC GDPinfo	7099	Hs.174312			The Journal of infection. 2005	TLR4 polymorphism in Iranian patients with brucellosis		603030	14318	2	2005	 This study is the first to show an association between genetic polymorphism in TLR4 gene and susceptibility to brucellosis.											
136358	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	9	9q32-q33	TLR4	119506430	119519587		Schroder, N. W.  et al. 2005	15875057				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Genes and immunity. 2005 Aug;6(5):448-51	Chronic periodontal disease is associated with single-nucleotide polymorphisms of the human TLR-4 gene		603030	14310	2	2005	These data demonstrate that genetic variants of TLR-4 may act as risk factors for the development of generalized chronic periodontitis in humans.	Control matched controls;Case:197 individuals suffering from generalized:periodontitis										
136359		kidney transplant	IMMUNE	IMM	Opportunistic Infections|Cytomegalovirus Infections|Arteriosclerosis	9	9q32-q33	TLR4	119506430	119519587		Ducloux, D.  et al. 2005	15882292				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Kidney international. 2005 Jun;67(6):2454-61	Relevance of Toll-like receptor-4 polymorphisms in renal transplantation.		603030	14311	2	2005	 RTR with TLR4 polymorphism present a lower risk of post-transplant atherosclerotic events and acute allograft rejection, but experience severe infectious episodes more frequently. This subset of RTR may benefit from a less potent immunosuppression regimen, along with increased preventive measures against infectious agents.	Cohort 238 rental transplant recipients 										
136360	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Lin, Y. C.  et al. 2005	15910856	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Chinese	China|Taiwan	CDC GDPinfo	7099	Hs.174312			Atherosclerosis. 2005 Jun;180(2):305-9	Toll-like receptor 4 gene C119A but not Asp299Gly polymorphism is associated with ischemic stroke among ethnic Chinese in Taiwan.		603030	14312	2	2005	These data possibly implicate TLR4 as an important genetic factor for stroke in ethnic Chinese populations despite the rarity of the Asp299Gly polymorphism.	Control:controls;Case Chinese ischemic stroke cases										
136355	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	9	9q32-q33	TLR4	119506430	119519587		Rittersma, S. Z.  et al. 2005	15650037				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Clinical chemistry. 2005 Mar;51(3):516-21	Relationship between In Vitro Lipopolysaccharide-Induced Cytokine Response in Whole Blood, Angiographic In-Stent Restenosis, and Toll-Like Receptor 4 Gene Polymorphisms		603030	14307	2	2005	 In vitro cytokine response to LPS challenge is not increased in patients with ISR. Functionality of the TLR4 Asp299Gly polymorphism could not be demonstrated in this setting, and this polymorphism was not associated with angiographic outcome, calling into question its role in the progression of neointimal tissue growth.	Cohort 236 consecutive patients who received elective stent placement in a native coronary artery 										
136356		diabetes, type 1	IMMUNE	IMM		9	9q32-q33	TLR4	119506430	119519587		Feng, K.  et al. 2005	15696495				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Chinese		CDC GDPinfo	7099	Hs.174312			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):99-101	[Study on single nucleotide polymorphism of TLR4 in Chinese population]		603030	14308	2	2005	 Sampling analysis in Han population of Chongqing showed that the two highly distributed SNPs of TLR4 were common in Chinese population and could be used for genetic marker of TLR4 gene.	Cohort Han population sample individuals Chongqing 										
136357	Y	Legionnaire's disease	INFECTION	INF	Legionnaires' Disease	9	9q32-q33	TLR4	119506430	119519587		Hawn, T. R.  et al. 2005	15699327				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Netherlands	CDC GDPinfo	7099	Hs.174312			Proceedings of the National Academy of Sciences of the United States of America. 2005 Feb;102(7):2487-9	Toll-like receptor 4 polymorphisms are associated with resistance to Legionnaires' disease.		603030	14309	2	2005	Although previous studies suggest that these TLR4 SNPs are associated with an increased risk of infection, this study demonstrates an association with resistance. This protective association illustrates that an innate immune receptor can mediate either beneficial or deleterious inflammatory responses and that these outcomes vary with different pathogens.	Case:108 Legionnaires' disease patients the Netherlands:1999;Control:421/89 controls exposed at the same outbreak, did not develop pneumonia, and were either unmatched (n = 421) or matched (n = 89) to patients for age, sex, and geographic residence										
136352		sepsis	INFECTION	INF		9	9q32-q33	TLR4	119506430	119519587		Hang, J.  et al. 2004	15373967	Asp299Gly, Thr399Ile			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Chinese		CDC GDPinfo	7099	Hs.174312			Journal of endotoxin research. 2004 ;10(4):238-40	TLR4 Asp299Gly and Thr399Ile polymorphisms are very rare in the Chinese population.		603030	14304	2	2004	Our results suggest that the TLR4 Asp299Gly and Thr339Ile polymorphisms are very rare in the Chinese population.	Cohort cohort of Han Chinese cotton and silk textile workers 										
136353	N	atherothrombosis	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Thrombosis|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Zee, R. Y.  et al. 2004	15576653				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Stroke; a journal of cerebral circulation. 2005 Jan;36(1):154-7	Toll-like Receptor 4 Asp299Gly Gene Polymorphism and Risk of Atherothrombosis		603030	14305	2	2004	 In contrast to previous data, the D299G TLR4 polymorphism was not associated with risk of incident MI or stroke in this large prospective study of US men.	Case:695 individuals with incident myocardial infarction (MI) or stroke;Control:695 age- and smoking-matched individuals who remained free of reported cardiovascular disease during follow-up within the Physicians' Health Study										
136354	Y	atherosclerosis, coronary; diabetes, type 2; C-reactive protein	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Diabetes Mellitus|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Kolek, M. J.  et al. 2004	15632890	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			American heart journal. 2004 Dec;148(6):1034-40	Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes.		603030	14306	2	2004	 The TLR4 299Gly allele was associated with reduced CRP levels and, in parallel, a decreased risk of angiographic CAD and clinical diabetes. These findings suggest that down-regulation of innate immune responsiveness could beneficially modify CAD and diabetes risk and might provide a novel basis for genetic risk stratification and therapeutic targeting.	Cohort 1,894 patients without acute myocardiao infarction undergoing coronary angiography 										
136349	N	response to endotoxin	IMMUNE	IMM	Endotoxemia	9	9q32-q33	TLR4	119506430	119519587		Schippers, E. F.  et al. 2004	15016407			promoter	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Cytokine. 2004 Apr;26(1):16-24	TNF-alpha promoter, Nod2 and toll-like receptor-4 polymorphisms and the in vivo and ex vivo response to endotoxin.		603030	14298	2	2004	Our results indicate that polymorphisms in the TLR4 receptor, Nod2 and TNF-alpha promoter region are not strongly associated with in vivo and ex vivo TNF-alpha production capacity upon endotoxin stimulation. This suggests that in this model of natural LPS release, the variation between individuals in TNF-alpha release can only modestly be determined by genetic background (TNF-alpha promoter, Nod2 and TLR4) of the individual.	Cohort patients ith endotoxemia 	endotoxin									
136350	N	cerebral arteriopathy	CARDIOVASCULAR	CARD	Brain Ischemia|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Reismann, P.  et al. 2004	15258789				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Germany	CDC GDPinfo	7099	Hs.174312			Journal of neurology. 2004 Jul;251(7):853-8	Lack of association between polymorphisms of the toll-like receptor 4 gene and cerebral ischemia.		603030	14300	2	2004	This implies that the Asp299Gly TLR4-allele might have a protective role in carotid atherosclerosis, but not in cerebral ischemia.	Case:128 consecutive patients with cerebral ischemia, mean age 60 +/- 10.9 years;Control:139 control subjects;Case:171 young adults aged < 50 years with cerebral ischemia;Control:204 control individuals:Cohort:769 patients either with type 1 or type 2 diabetes mellitus, of whom 56 (7.2%) had a history of cerebral ischemia										
136351	Y	vaginal micro-flora	INFECTION	INF	Vaginosis, Bacterial|Pregnancy Complications, Infectious	9	9q32-q33	TLR4	119506430	119519587		Genc, M. R.  et al. 2004	15358455				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			European journal of obstetrics, gynecology, and reproductive biology. 2004 Oct;116(2):152-6	Relationship between a toll-like receptor-4 gene polymorphism, bacterial vaginosis-related flora and vaginal cytokine responses in pregnant women		603030	14303	2	2004	 The TLR4 896 A > G polymorphism contributes to inter-individual differences in the vaginal immune defense against G. vaginalis and anaerobic Gram-negative rods.	Cohort 238 women at 18-22 weeks gestation 										
136346	N	cytokine synthesis	IMMUNE	IMM		9	9q32-q33	TLR4	119506430	119519587		Heesen, M.  et al. 2003	14715415	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			European cytokine network. 2003 Oct-Dec;14(4):234-7	The cytokine synthesis by heterozygous carriers of the Toll-like receptor 4 Asp299Gly polymorphism does not differ from that of wild type homozygotes		603030	14294	2	2003	Our study suggests that heterozygosity for this TLR4 mutation is not a major factor determining the cytokine response to endotoxin.	Cohort healthy individuals 										
136347	N	asthma; atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Yang, I. A.  et al. 2004	14735148				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Genes and immunity. 2004 Jan;5(1):41-5	Toll-like receptor 4 polymorphism and severity of atopy in asthmatics		603030	14295	2	2004	This study confirms the previously observed lack of association of TLR4 polymorphisms with asthma. In contrast, the findings suggest that genetically determined hyporesponsiveness to endotoxin may increase atopy severity.	Control:179 Caucasians without asthma or a family history of:asthma;Case:336 Caucasian families with >/=2 affected sibs (physician's diagnosis of asthma and current medication use):UK										
136348	N	hypercholesterolemia; atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hyperlipoproteinemia Type II|Disease Progression|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Netea, M. G.  et al. 2004	14764071	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			European journal of clinical investigation. 2004 Feb;34(2):94-9	Toll-like receptor-4 Asp299Gly polymorphism does not influence progression of atherosclerosis in patients with familial hypercholesterolaemia.		603030	14296	2	2004	 The presence of the Asp299Gly allele of the TLR4 gene does not seem to exert a major influence on the progression of atherosclerosis in patients with FH.	Control:200 healthy volunteers;Case:293 familial hypercholesterolemia patients										
136343	N	hematology indices	OTHER	OTH	Inflammation	9	9q32-q33	TLR4	119506430	119519587		Von Aulock, S.  et al. 2003	12964127				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of infectious diseases. 2003 Sep;188(6):938-43	Heterozygous toll-like receptor 4 polymorphism does not influence lipopolysaccharide-induced cytokine release in human whole blood.		603030	14289	2	2003	These data demonstrate that the heterozygous Asp299Gly polymorphism does not exhibit a functional defect in cytokine release after the stimulation of blood monocytes.	Cohort 160 healthy volunteers 										
136344	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		Ameziane, N.  et al. 2003	14563652	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Arteriosclerosis, thrombosis, and vascular biology. 2003 Dec;23(12):e61-4	Association of the Toll-like receptor 4 gene Asp299Gly polymorphism with acute coronary events.		603030	14291	2	2003	 These results, which must be confirmed by a prospective longitudinal study, provide evidence of an association between the Asp299Gly polymorphism of the human TLR4 receptor and acute coronary syndromes. They confirm the previously reported involvement of TLR4 in carotid and femoral artery atherosclerosis.	Case:183 patients with acute coronary syndromes;Control:216:controls										
136345	Y	systemic inflammatory hyporesponsiveness	IMMUNE	IMM	Inflammation	9	9q32-q33	TLR4	119506430	119519587		Michel, O.  et al. 2003	14610481				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of allergy and clinical immunology. 2003 Nov;112(5):923-9	Systemic responsiveness to lipopolysaccharide and polymorphisms in the toll-like receptor 4 gene in human beings.		603030	14292	2	2003	 The single-nucleotide polymorphisms at position +896 or +1196 in the TLR-4 gene is associated with systemic inflammatory hyporesponsiveness to inhaled lipopolysaccharide.	Cohort 116 healthy subjects 	lipopolysaccharide									
136340		infertility, female	INFECTION	INF	Chlamydia Infections|Infertility, Female|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Morre, S. A.  et al. 2003	12552467	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of infectious diseases. 2003 Jan;187(2):341-2; author reply 342-3	The role that the functional Asp299Gly polymorphism in the toll-like receptor-4 gene plays in susceptibility to Chlamydia trachomatis-associated tubal infertility.		603030	14286	2	2003	Our results support the hypothesis that the functional polymorphism in the gene encoding TLR4 function may not be a rate-limiting component for containment, by the human innate immune system, of natural gram-negative infection (due to extra- andor intracellular pathogens).	Case:30 white Dutch subfertile women;Control:41:controls	Chlamydia trachomatis									
136341	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Kilding, R.  et al. 2003	12846053				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Clinical and experimental rheumatology. 2003 May-Jun;21(3):340-2	A biologically important single nucleotide polymorphism within the toll-like receptor-4 gene is not associated with rheumatoid arthritis.		603030	14287	2	2003	 The TLR-4 +896 polymorphism does not appear to influence susceptibility to rheumatoid arthritis.	Case:212 rheumatoid arthritis patients the north of England;Control:879 healthy controls										
136342	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Yang, I. A.  et al. 2003	12957699	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Atherosclerosis. 2003 Sep;170(1):187-90	TLR4 Asp299Gly polymorphism is not associated with coronary artery stenosis.		603030	14288	2	2003	 The findings of this study do not support the hypothesis that the TLR4 Asp299Gly polymorphism influences predisposition to and progression of coronary artery disease.	Cohort 1400 										
136337	Y	shortened gestation	REPRODUCTION	REP	Obstetric Labor, Premature	9	9q32-q33	TLR4	119506430	119519587		Lorenz, E.  et al. 2002	12193670	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Finnish	Finland	CDC GDPinfo	7099	Hs.174312			Pediatric research. 2002 Sep;52(3):373-6	Association between the Asp299Gly Polymorphisms in the Toll-like Receptor 4 and Premature Births in the Finnish Population		603030	14281	2	2002	According to the present results an allelic variation in the TLR4 receptor was associated with increased risk of premature birth.	Control:351 term infants;Case:440 premature infants (gestational age <35 wk; 282 singletons, 158 multiples):Finland										
136338		Crohn's disease; ulcerative colitis	IMMUNE	IMM		9	9q32-q33	TLR4	119506430	119519587		Schmitt, C.  et al. 2002	12324481				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Clinical chemistry. 2002 Oct;48(10):1661-7	Polymorphisms of TLR4: rapid genotyping and reducedresponse to lipopolysaccharide of TLR4 mutant alleles.		603030	14282	2	2002	 Homogeneous fluorescence-based PCR assays provide a specific and sensitive method for high-throughput genotyping of TLR4 mutations. The newly developed PCR and MALDI-TOF-MS assays may be useful to evaluate the presence of TLR4 polymorphisms in patients to predict susceptibility to bacterial infection.	Cohort 116 healthy German Caucasians 										
136339	N	tuberculosis; pneumococcal disease	INFECTION	INF	Bacterial Infections|Tuberculosis, Pulmonary|Pneumococcal Infections	9	9q32-q33	TLR4	119506430	119519587		Cooke, G. S.  et al. 2002	12477953				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The New England journal of medicine. 2002 Dec;347(24):1978-80; author reply 1978-80	Toll-like receptor 4 polymorphisms and atherogenesis.		603030	14285	2	2002	These data add to the findings of Read et al. (2001) that the TLR4 896G polymorphism was not associated with susceptibility to, or severity of, meningococcal disease. Together, they suggest that this polymorphism is likely to influence the course of infection only be specific organisms, not by a broad spectrum.	Case:300/976 UK patients with invasive pneumococcal disease (n=300) and West African patients with pulmonary:tuberculosis (n=976) UK/West Africa;Control:529/709 control individuals for comparison to patients with pneumococcal disease (n=529) and with pulmonary:tuberculosis (n=709)										
136334	N	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Read, R. C.  et al. 2001	11494169				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The Journal of infectious diseases. 2001 Sep;184(5):640-2	A functional polymorphism of toll-like receptor 4 is not associated with likelihood or severity of meningococcal disease.		603030	14278	2	2001	Therefore, this functional TLR4 polymorphism does not influence susceptibility to or severity of meningococcal disease.	Case:1047 patients with microbiologically proven meningococcal disease;Case:86 patients who died of meningococcal disease;Control:879 blood donors										
136335	Y	lipopolysaccharide hyporesponsiveness	OTHER	OTH	Colitis, Ulcerative	9	9q32-q33	TLR4	119506430	119519587		Okayama, N.  et al. 2002	11835533	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Japanese		CDC GDPinfo	7099	Hs.174312			Journal of clinical laboratory analysis. 2002 ;16(1):56-8	Simple genotype analysis of the Asp299Gly polymorphism of the Toll-like receptor-4 gene that is associated with lipopolysaccharide hyporesponsiveness.		603030	14279	2	2002	The Asp299Gly allele of the TLR-4 gene was not detected in any of the specimens, suggesting that it is very rare in Japanese.	Control:107 healthy volunteers;Case:168 patients with various diseases, including ulcerative colitis (n=86):Japanese										
136336	Y	atherosclerosis	CARDIOVASCULAR	CARD	Bacterial Infections|Carotid Artery Diseases|Arteriosclerosis|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Kiechl, S.  et al. 2002	12124407				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			The New England journal of medicine. 2002 Jul;347(3):185-92	Toll-like receptor 4 polymorphisms and atherogenesis.		603030	14280	2	2002	 The Asp299Gly TLR4 polymorphism, which attenuates receptor signaling and diminishes the inflammatory response to gram-negative pathogens, is associated with a decreased risk of atherosclerosis. This finding is consistent with the hypothesis that innate immunity may play a part in atherogenesis.	Cohort 810 persons in the study cohort from the Bruneck Study Italy 										
136331	N	periodontal disease	IMMUNE	IMM	Periodontal Diseases|Chronic Disease	9	9q32-q33	TLR4	119506430	119519587		Folwaczny M 2004	14738464				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			Clinical and experimental immunology. 2004 Feb;135(2):330-5	Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease.		603030	5913	1	2004	Unlike in ulcerative colitis there was not observed an association between chronic periodontitis and the various mutations of the TLR 2 and 4 gene.	Control:122 healthy unrelated controls;Case:122 patients with chronic periodontal disease										
136332	N	atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hyperlipoproteinemia Type II|Disease Progression|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Netea MG 2004	14764071				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			European journal of clinical investigation. 2004 Feb;34(2):94-9	Toll-like receptor-4 Asp299Gly polymorphism does not influence progression of atherosclerosis in patients with familial hypercholesterolaemia.		603030	5914	1	2004	 The presence of the Asp299Gly allele of the TLR4 gene does not seem to exert a major influence on the progression of atherosclerosis in patients with FH.	Control:200 healthy volunteers;Case:293 familial hypercholesterolemia patients										
136333	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Sanchez E et al. 2004	14651524			coding sequence	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Spanish			7099	Hs.174312			Tissue antigens. 2004 Jan;63(1):54-7	Polymorphisms of toll-like receptor 2 and 4 genes in rheumatoid arthritis and systemic lupus erythematosus		603030	5915	1	2004	In conclusion, a case-control study was used to analyze, for the first time, the influence of TLR2 and TLR4 gene polymorphism on the predisposition and clinical characteristics of SLE and RA but provided no evidence for association of TLR2 or TLR4 gene polymorphism with either disease in the population under study.	Case:122/224 patients with systemic lupus erythematosus (n=122) and rheumatoid arthritis (n=224);Control:199 healthy individuals										
136328		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease|Respiratory Sounds	9	9q32-q33	TLR4	119506430	119519587		Werner M 2003	12897738				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			The Journal of allergy and clinical immunology. 2003 Aug;112(2):323-30	TLR4 gene variants modify endotoxin effects on asthma.		603030	5910	1	2003	 The G299/I399 polymorphisms were associated with a modified response to endotoxin, but the functional relationship still needs clarification.	Cohort individuals from the European Community Respiratory Health Survey										
136329	N	lipopolysaccharide-induced cytokine release	OTHER	OTH	Inflammation	9	9q32-q33	TLR4	119506430	119519587	n	von Aulock S 2003	12964127				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			The Journal of infectious diseases. 2003 Sep;188(6):938-43	Heterozygous toll-like receptor 4 polymorphism does not influence lipopolysaccharide-induced cytokine release in human whole blood.		603030	5911	1	2003	These data demonstrate that the heterozygous Asp299Gly polymorphism does not exhibit a functional defect in cytokine release after the stimulation of blood monocytes.	Cohort 160 healthy volunteers										
136330		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Radstake TR 2004	15022344	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			Arthritis and rheumatism. 2004 Mar;50(3):999-1001	The Toll-like receptor 4 Asp299Gly functional variant is associated with decreased rheumatoid arthritis disease susceptibility but does not influence disease severity and/or outcome.		603030	5912	1	2004												
136323	Y	endotoxin hyporesponsiveness	OTHER	OTH	Respiratory Hypersensitivity	9	9q32-q33	TLR4	119506430	119519587		Arbour NC et al. 2000	10835634				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			Nature genetics. 2000 Jun;25(2):187-91	TLR4 mutations are associated with endotoxin hyporesponsiveness in humans.		603030	5905	1	2000												
136324	N	asthma and atopy	IMMUNE	IMM	Asthma|Hypersensitivity	9	9q32-q33	TLR4	119506430	119519587	n	Raby BA et al. 2002	12406828	Haplotype tag and coding SNPs	endotoxin hyporesponsiveness	coding sequence	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucaisan (North America and French Canada founder population)		KGB	7099	Hs.174312	asthma (methacholine responsive, doctor diagnosis)		American journal of respiratory and critical care medicine. 2002 Dec;166(11):1449-56	Polymorphisms in toll-like receptor 4 are not associated with asthma or atopy-related phenotypes.		603030	5906	1	2002		Case:756										
136325	N	Lipopolysaccharide Hyporesponsiveness	OTHER	OTH	Colitis, Ulcerative	9	9q32-q33	TLR4	119506430	119519587	n	Okayama N 2002	11835533	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Japanese		TJB	7099	Hs.174312			Journal of clinical laboratory analysis. 2002 ;16(1):56-8	Simple genotype analysis of the Asp299Gly polymorphism of the Toll-like receptor-4 gene that is associated with lipopolysaccharide hyporesponsiveness.		603030	5907	1	2002	The Asp299Gly allele of the TLR-4 gene was not detected in any of the specimens, suggesting that it is very rare in Japanese.	Control:107 healthy volunteers;Case:168 patients with various diseases, including ulcerative colitis (n=86):Japanese										
136326	Y	FEV1	OTHER	OTH		9	9q32-q33	TLR4	119506430	119519587	P=0.04	Arbour NC 2000	11597901	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	U.S. Caucasian		KGB	7099	Hs.174312			American journal of physiology Lung cellular and molecular physiology. 2001 Nov;281(5):L1106-14			603030	5908	1	2000												
136319	Y	Septic Shock	INFECTION	INF	Gram-Negative Bacterial Infections|Shock, Septic	9	9q32-q33	TLR4	119506430	119519587	p=0.05	Lorenz E 2002	11996613	Asp299Gly and Thr399I1e			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			TJB	7099	Hs.174312			Archives of internal medicine. 2002 May;162(9):1028-32			603030	5901	1	2002	 Mutations in the TLR4 receptor may predispose people to develop septic shock with gram-negative microorganisms.	Case:91; Control:73										
136320	Y	FEV1	OTHER	OTH		9	9q32-q33	TLR4	119506430	119519587	P=0.04	Arbour NC 2000	11597901	Thr399Ile			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	U.S. Caucasian		KGB	7099	Hs.174312			American journal of physiology Lung cellular and molecular physiology. 2001 Nov;281(5):L1106-14			603030	5902	1	2000												
136321	Y	FEV1	OTHER	OTH		9	9q32-q33	TLR4	119506430	119519587	P=0.04	Arbour NC 2000	11597901	Asp299Gly. Thr399Ile			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			American journal of physiology Lung cellular and molecular physiology. 2001 Nov;281(5):L1106-14			603030	5903	1	2000												
136322	N	Meningococcal Disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587	n	Read RC 2001	11494169	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			TJB	7099	Hs.174312			The Journal of infectious diseases. 2001 Sep;184(5):640-2	A functional polymorphism of toll-like receptor 4 is not associated with likelihood or severity of meningococcal disease.		603030	5904	1	2001	Therefore, this functional TLR4 polymorphism does not influence susceptibility to or severity of meningococcal disease.	Case:1047 patients with microbiologically proven meningococcal disease;Case:86 patients who died of meningococcal disease;Control:879 blood donors										
136315		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	4	4q32	TLR2	154824890	154846692		Lehrnbecher, T.  et al. 2005	16107886				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		603028	27641	2	2005												
136316		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q35	TLR3	187227302	187243246		Pirie, F. J.  et al. 2005	16029432				Toll-like receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003265.2	South African	South Africa	CDC GDPinfo	7098	Hs.543332			Tissue antigens. 2005 Aug;66(2):125-30	Toll-like receptor 3 gene polymorphisms in South African Blacks with type 1 diabetes.		603029	14277	2	2005												
136317	N	asthma	IMMUNE	IMM	Asthma	4	4q35	TLR3	187227302	187243246		Noguchi, E.  et al. 2004	14987294				Toll-like receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003265.2	Japanese	Japan	CDC GDPinfo	7098	Hs.543332			Clinical and experimental allergy. 2004 Feb;34(2):177-83	An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population		603029	23658	2	2004	 Our results indicate that polymorphisms in TLRs are not likely to be associated with the development of atopy-related phenotypes in a Japanese population.	Cohort 32 asthmatics Japan 										
136318		Gram neg. septic shock	INFECTION	INF	Gram-Negative Bacterial Infections|Shock, Septic	9	9q32-q33	TLR4	119506430	119519587	0.05	Lorenz E 2002	11996613	Asp299Gly. Asp299Gly/Thr399Ile			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	91 septic shock pts		KGB	7099	Hs.174312			Archives of internal medicine. 2002 May;162(9):1028-32			603030	5900	1	2002	 Mutations in the TLR4 receptor may predispose people to develop septic shock with gram-negative microorganisms.											
136312		Crohn's disease; ulcerative colitis; pancolitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692			16374251				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Inflammatory bowel diseases. 2006 Jan;12(1):8-Jan	Toll-Like Receptor-1, -2, and -6 Polymorphisms Influence Disease Extension in Inflammatory Bowel Diseases		603028	23657	2	2006	 TLR2 and its cofactors TLR1 and TLR6 are involved in the initial immune response to bacteria by recognizing peptidoglycan. An association between nonsynonymous variants in the TLR1, -2, and -6 genes and extensive colonic disease in UC and CD was found. Our findings further highlight the role of an abnormal innate immune response in the pathogenesis of IBD.											
136313		systemic inflammatory response syndrome	IMMUNE	IMM	Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	4	4q32	TLR2	154824890	154846692		Sutherland, A. M.  et al. 2005	15753758				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		British Columbia	CDC GDPinfo	7097	Hs.519033			Critical care medicine. 2005 Mar;33(3):638-44	Polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of infection in critically ill adults.		603028	25652	2	2005	 Single nucleotide polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of positive bacterial cultures and sepsis but not with altered prevalence of septic shock or decreased 28-day survival. Furthermore, CD14 single nucleotide polymorphisms were associated with Gram-negative bacteria and Toll-like receptor-2 with Gram-positive bacteria, whereas mannose-binding lectin was not associated with a particular organism class. Thus, single nucleotide polymorphisms in innate immunity receptors may alter recognition and clearance of bacteria without changing outcomes of critically ill adults with systemic inflammatory response syndrome.	Cohort 252 critically ill Caucasians with systemic inflammatory response syndrome 										
136314		preterm delivery	REPRODUCTION	REP	Premature Birth	4	4q32	TLR2	154824890	154846692		Hartel, C.  et al. 2004	15516360				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Molecular human reproduction. 2004 Dec;10(12):911-5	Polymorphisms of genes involved in innate immunity:association with preterm delivery		603028	26661	2	2004	The overall influence of the investigated polymorphisms on the development of preterm delivery seems moderate, since only the maternal IL6-174G genotype was associated with preterm birth and none of the polymorphisms were associated with intrauterine infection as the cause of preterm birth.	Control:491 term-born infants;Case:909 preterm very-low-birth-weight infants										
136308	Y	asthma; allergic rhinitis; atopic dermatitis	IMMUNE	IMM	Asthma|Hypersensitivity	4	4q32	TLR2	154824890	154846692		Eder, W.  et al. 2004	15007351				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	European	Austria|Germany	CDC GDPinfo	7097	Hs.519033			The Journal of allergy and clinical immunology. 2004 Mar;113(3):482-8	Toll-like receptor 2 as a major gene for asthma in children of European farmers.		603028	19871	2	2004	 Our results suggest that genetic variation in TLR2 is a major determinant of the susceptibility to asthma and allergies in children of farmers.	Cohort nonfarmers' children living in rural areas Cohort farmers' children living in rural areas Austria and Germany 										
136309		Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Rupp, J.  et al. 2004	15175649				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Genes and immunity. 2004 Aug;5(5):435-8	CD14 promoter polymorphism -159C>T is associated with susceptibility to chronic Chlamydia pneumoniae infection in peripheral blood monocytes.		603028	23654	2	2004	Susceptibility for chronic chlamydial infection of PBMC in CAD patients appears associated with the CD14-159C>T promoter polymorphism encoding for enhanced CD14 expression.	Cohort 610 coronary artery disease (CAD) patients of Central European background 	Chlamydia pneumoniae									
136311		Lyme disease	INFECTION	INF	Lyme Disease|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Schroder, N. W.  et al. 2005	16081826				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Journal of immunology (Baltimore, Md :  1950). 2005 Aug;175(4):2534-40	Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease.		603028	23656	2	2005												
136304	N	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Sanchez, E.  et al. 2004	14651524				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Tissue antigens. 2004 Jan;63(1):54-7	Polymorphisms of toll-like receptor 2 and 4 genes in rheumatoid arthritis and systemic lupus erythematosus.		603028	14293	2	2004	In conclusion, a case-control study was used to analyze, for the first time, the influence of TLR2 and TLR4 gene polymorphism on the predisposition and clinical characteristics of SLE and RA but provided no evidence for association of TLR2 or TLR4 gene polymorphism with either disease in the population under study.	Case:122/224 patients with systemic lupus erythematosus (n=122) and rheumatoid arthritis (n=224);Control:199 healthy individuals										
136306		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692			16371473				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	African children		CDC GDPinfo	7097	Hs.519033			Proceedings of the National Academy of Sciences of the United States of America. 2006 Jan;103(1):177-82	Toll-like receptor (TLR) polymorphisms in African children: Common TLR-4 variants predispose tosevere malaria		603028	14319	2	2005												
136307	N	periodontal disease	IMMUNE	IMM	Periodontal Diseases|Chronic Disease	4	4q32	TLR2	154824890	154846692		Folwaczny, M.  et al. 2004	14738464				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Clinical and experimental immunology. 2004 Feb;135(2):330-5	Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease		603028	19870	2	2004	Unlike in ulcerative colitis there was not observed an association between chronic periodontitis and the various mutations of the TLR 2 and 4 gene.	Control:122 healthy unrelated controls;Case:122 patients with chronic periodontal disease										
136301		leprosy	INFECTION	INF	Leprosy, Lepromatous|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Malhotra, D.  et al. 2005	15726416	Arg677Trp			Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean		CDC GDPinfo	7097	Hs.519033			Human genetics. 2005 Apr;116(5):413-5	TLR2 Arg677Trp polymorphism in leprosy: revisited.		603028	14274	2	2005	Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp polymorphism associated with lepromatous leprosy in the Korean population is not a true polymorphism of the TLR2 gene and has resulted from the variation present in the 93% homologous duplicated region of TLR2 exon 3 present approximately 23 kb upstream.	Control:183 ethnically matched controls;Case:286 Indian leprosy patients:Korea										
136302	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	4	4q32	TLR2	154824890	154846692		Hamann, L.  et al. 2005	15875151				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Journal of molecular medicine (Berlin, Germany). 2005 Jun;83(6):478-85	A frequent toll-like receptor (TLR)-2 polymorphism is a risk factor for coronary restenosis		603028	14275	2	2005	We conclude that  in restenosis a functional TLR-2 is protective and potentially involved in a reaction pattern preventing restenosis. Screening for the TLR-2 Arg753Gln SNP may be of importance for stratifying a patient's risk and for preventive and therapeutic measures.	Control age-matched individuals without atherosclerosis;Case patients receiving percutaneous transluminal coronary angioplasty with and without restenosis										
136303	Y	rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Berdeli, A.  et al. 2005	15968536	v			Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Journal of molecular medicine (Berlin, Germany). 2005 Jul;83(7):535-41	TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children.		603028	14276	2	2005												
136297	Y	tuberculosis	INFECTION	INF	Tuberculosis, Lymph Node|Tuberculosis, Pleural|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Ogus, A. C.  et al. 2004	14979495	Arg753GLn			Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		Turkey	CDC GDPinfo	7097	Hs.519033			The European respiratory journal. 2004 Feb;23(2):219-23	The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease.		603028	14270	2	2004	In conclusion, the present data suggest that the arginine to glutamine substitution at residue 753 polymorphism of the Toll-like receptor 2 gene influences the risk of developing tuberculosis.	Control:116 ethnically and age-matched healthy control subjects;Case:151 tuberculosis diseased patients										
136299	N	Staphylococcus aureus infection	INFECTION	INF	Staphylococcal Infections|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Moore, C. E.  et al. 2004	15539529				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Clinical and diagnostic laboratory immunology. 2004 Nov;11(6):1194-7	Lack of association between Toll-like receptor 2 polymorphisms and susceptibility to severe disease caused by Staphylococcus aureus.		603028	14272	2	2004	No associations with disease or mortality attributable to these features were found.	Control:controls;Case Staphylococcus aureus infected individuals										
136300	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Park, Y.  et al. 2004	15699513				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		Korea	CDC GDPinfo	7097	Hs.519033			Annals of the New York Academy of Sciences. 2004 Dec;1037:170-4	Association of the polymorphism for Toll-like receptor 2 with type 1 diabetes susceptibility.		603028	14273	2	2004	The TLR2 polymorphisms are associated with T1DM, and distribution differences between T1DM versus controls were not influenced by the HLA genes. There is a close relationship between innate and adaptive immunity.	Control:controls;Case Korean type 1 diabetics										
136294	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	4	4q32	TLR2	154824890	154846692		Eder W 2004	15007351				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	European	Austria|Germany	KGB	7097	Hs.519033			The Journal of allergy and clinical immunology. 2004 Mar;113(3):482-8	Toll-like receptor 2 as a major gene for asthma in children of European farmers.		603028	5898	1	2004	 Our results suggest that genetic variation in TLR2 is a major determinant of the susceptibility to asthma and allergies in children of farmers.	Cohort nonfarmers' children living in rural areas Cohort farmers' children living in rural areas Austria and Germany										
136295	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Sanchez E et al. 2004	14651524			coding sequence	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Spanish		Javier Martin	7097	Hs.519033			Tissue antigens. 2004 Jan;63(1):54-7	Polymorphisms of toll-like receptor 2 and 4 genes in rheumatoid arthritis and systemic lupus erythematosus		603028	5899	1	2004	In conclusion, a case-control study was used to analyze, for the first time, the influence of TLR2 and TLR4 gene polymorphism on the predisposition and clinical characteristics of SLE and RA but provided no evidence for association of TLR2 or TLR4 gene polymorphism with either disease in the population under study.	Case:122/224 patients with systemic lupus erythematosus (n=122) and rheumatoid arthritis (n=224);Control:199 healthy individuals										
136296	Y	atherosclerosis, coronary	IMMUNE	IMM	Staphylococcal Infections|Shock, Septic	4	4q32	TLR2	154824890	154846692		Lorenz, E.  et al. 2000	11035751				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Infection and immunity. 2000 Nov;68(11):6398-401	A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection.		603028	14269	2	2000	These findings suggest that a mutation in the TLR2 gene may predispose individuals to life-threatening bacterial infections.	Cohort 110 normal, healthy study subjects 										
136291	Y	IL-12 production from monocyte	OTHER	OTH	Leprosy, Lepromatous	4	4q32	TLR2	154824890	154846692		Kang TJ et al. 2002	12445799				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			KGB	7097	Hs.519033			Cytokine. 2002 Oct;20(2):56-62	A polymorphism in the toll-like receptor 2 is associated with IL-12 production from monocyte in lepromatous leprosy.		603028	5895	1	2002												
136292	Y	staphylococcal infection	IMMUNE	IMM	Staphylococcal Infections|Shock, Septic	4	4q32	TLR2	154824890	154846692		Lorenz E et al. 2000	11035751	Arg753Gln		coding sequence	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			KGB	7097	Hs.519033			Infection and immunity. 2000 Nov;68(11):6398-401	A novel polymorphism in the toll-like receptor 2 gene and its potential association with staphylococcal infection.		603028	5896	1	2000	These findings suggest that a mutation in the TLR2 gene may predispose individuals to life-threatening bacterial infections.	Cohort 110 normal, healthy study subjects										
136293	N	periodontal disease	IMMUNE	IMM	Periodontal Diseases|Chronic Disease	4	4q32	TLR2	154824890	154846692		Folwaczny M 2004	14738464				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			KGB	7097	Hs.519033			Clinical and experimental immunology. 2004 Feb;135(2):330-5	Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease.		603028	5897	1	2004	Unlike in ulcerative colitis there was not observed an association between chronic periodontitis and the various mutations of the TLR 2 and 4 gene.	Control:122 healthy unrelated controls;Case:122 patients with chronic periodontal disease										
136286		Lyme disease	INFECTION	INF	Lyme Disease|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807		Schroder, N. W.  et al. 2005	16081826	Arg753Gln			Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3			CDC GDPinfo	7096	Hs.575090			Journal of immunology (Baltimore, Md :  1950). 2005 Aug;175(4):2534-40	Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease.		601194	14322	2	2005												
136288	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807		Sun, J.  et al. 2005	15812078				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3		Sweden	CDC GDPinfo	7096	Hs.575090			Journal of the National Cancer Institute. 2005 Apr;97(7):525-32	Sequence variants in Toll-like receptor gene cluster (TLR6-TLR1-TLR10) and prostate cancer risk.		601194	19864	2	2005	 The observed multiple associated SNPs at the TLR6-TLR1-TLR10 gene cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. The TLR6-TLR1-TLR10 gene cluster may play a role in prostate cancer risk, although further functional studies are needed to pinpoint the disease-associated variants in this gene cluster.	Case:1,383 prostate cancer cases:Sweden;Control:780:controls										
136289	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	4	4p14	TLR10	38450646	38460984		Lazarus, R.  et al. 2004	15201134				Toll-like receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030956.2		United States	CDC GDPinfo	81793	Hs.120551			American journal of respiratory and critical care medicine. 2004 Sep;170(6):594-600	TOLL-like receptor 10 genetic variation is associated with asthma in two independent samples.		606270	19863	2	2004	Consistent association in two independent samples and association with an intermediate phenotype provides strong support for TLR10 genetic variation contributing to asthma risk.	Case:517 European American asthmatic cases nested within the Nurses Health Study cohort;Control:519 European American controls nested within the Nurses Health Study cohort										
136283	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Autoimmune Diseases|Genetic Predisposition to Disease	3	3q25.31	TIPARP	157875072	157907228		Rueda, B.  et al. 2005	16026592				TCDD-inducible poly(ADP-ribose) polymerase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015508.2			CDC GDPinfo	25976	Hs.12813			International journal of immunogenetics. 2005 Aug;32(4):245-8	Poly (ADP-ribose) polymerase-1 haplotypes are associated with coeliac disease.			19861	2	2005												
136284		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease|Inflammation	11	11q24.2	TIRAP	125658191	125670038		Xu, J.  et al. 2005	16284379				Toll-interleukin 1 receptor (TIR) domain containing adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148910.2			CDC GDPinfo	114609	Hs.537126			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2563-8	The interaction of four genes in the inflammation pathway significantly predicts prostate cancer risk.		606252	25651	2	2005												
136285	Y	Mitochondrial myopathy	MITOCHONDRIAL	MITO	Mitochondrial Myopathies	16	16q22-q23.1	TK2	65100845	65141816		Mancuso M 2003	12873860				Thymidine kinase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004614.3			KGB	7084	Hs.512619			Archives of neurology. 2003 Jul;60(7):1007-9	Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.		188250	5894	1	2003	 These results document the importance of screening the TK2 gene in patients with myopathic mitochondrial DNA depletion syndrome and confirm that exon 5 is a hot spot for TK2 mutations.											
136279	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q12.1-q13.2	TIMP3	31526801	31589028		Hung, C. C.  et al. 2001	11353449				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4		Taiwan	CDC GDPinfo	7078	Hs.297324			American journal of medical genetics. 2001 Apr;105(3):275-8	Systematic search for mutations in the human tissue inhibitor of metalloproteinases-3 (TIMP-3) gene on chromosome 22 and association study with schizophrenia.		188826	19859	2	2001	Hence, it is unlikely that the TIMP-3 gene itself may play an important role in the genetic susceptibility to schizophrenia. Further case control association study revealed a significant difference of genotype distribution of the c.249T-->C between schizophrenic patients and control. This finding supports that 22q12 is a schizophrenia susceptible region, and it is likely that there might be other genetic mutations in the neighborhood of the TIMP-3 gene locus that may contribute to the susceptibility of schizophrenia.	Case:63 unrelated Han Chinese schizophrenic patients with a family history:Taiwan;Control:66 non-psychotic adults										
136280	Y	pulmonary fibrosis; Pigeon breeders disease	CARDIOVASCULAR	CARD	Bird Fancier's Lung|Pulmonary Fibrosis|Genetic Predisposition to Disease	22	22q12.1-q13.2	TIMP3	31526801	31589028		Hill, M. R.  et al. 2004	15223866			promoter	TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4			CDC GDPinfo	7078	Hs.297324			Thorax. 2004 Jul;59(7):586-90	Promoter variants in tissue inhibitor of metalloproteinase-3 (TIMP-3) protect against susceptibility in pigeon breeders' disease.		188826	19860	2	2004	 TIMP-3 variants appear to contribute to susceptibility to PBD. This may be through the inflammatory reaction rather than the fibrotic reaction.	Control:323/90 healthy subjects (n=323) and subjects exposed to avian antigen but without pigeon breeders' disease:(n=90);Case:94/115 subjects with idiopathic pulmonary fibrosis (n=94) and with pigeon breeders' disease (n=115)										
136281	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	22	22q12.1-q13.2	TIMP3	31526801	31589028		Krex, D.  et al. 2003	14605322				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4			CDC GDPinfo	7078	Hs.297324			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2817-21	Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms.		188826	25650	2	2003	 Our analysis of the entire coding region of 3 TIMPs, which are the main inhibitors of metalloproteinase activity in the extracellular matrix, failed to show an association between genetic polymorphisms and an intracranial aneurysm. These data do not support the hypothesis that genetic variants within these genes have an impact on aneurysm development in the white population.	Case:44 patients with intracranial aneurysms;Control:44/41/40 controls for the analysis of TIMP1 (n=44), -2:(n=41) and -3 (n=40)										
136276	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q12.1-q13.2	TIMP3	31526801	31589028		Hung CC et al. 2001	11353449				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4		Taiwan	KGB	7078	Hs.297324			American journal of medical genetics. 2001 Apr;105(3):275-8	Systematic search for mutations in the human tissue inhibitor of metalloproteinases-3 (TIMP-3) gene on chromosome 22 and association study with schizophrenia.		188826	5892	1	2001	Hence, it is unlikely that the TIMP-3 gene itself may play an important role in the genetic susceptibility to schizophrenia. Further case control association study revealed a significant difference of genotype distribution of the c.249T-->C between schizophrenic patients and control. This finding supports that 22q12 is a schizophrenia susceptible region, and it is likely that there might be other genetic mutations in the neighborhood of the TIMP-3 gene locus that may contribute to the susceptibility of schizophrenia.	Case:63 unrelated Han Chinese schizophrenic patients with a family history:Taiwan;Control:66 non-psychotic adults										
136277	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	22	22q12.1-q13.2	TIMP3	31526801	31589028		Beranek M 2003	14632160				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4	Caucasian		Y Wang	7078	Hs.297324	diabetic retinopathy		Current eye research. 2003 Aug;27(2):91-3	Three novel polymorphisms in the promoter region of the TIMP-3 gene are not associated with proliferative diabetic retinopathy in type 2 diabetes mellitus.		188826	5893	1	2003	 Polymorphisms in the promoter region of the TIMP-3 gene were not associated with the PDR in the Caucasian T2DM patients.											
136278	N	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	22	22q12.1-q13.2	TIMP3	31526801	31589028		Beranek, M.  et al. 2003	14632160			promoter	TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4	Caucasian		CDC GDPinfo	7078	Hs.297324			Current eye research. 2003 Aug;27(2):91-3	Three novel polymorphisms in the promoter region of the TIMP-3 gene are not associated with proliferative diabetic retinopathy in type 2 diabetes mellitus		188826	14267	2	2003	 Polymorphisms in the promoter region of the TIMP-3 gene were not associated with the PDR in the Caucasian T2DM patients.											
136273		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Coronary Artery Disease	17	17q25	TIMP2	74360653	74433067		Nakai, K.  et al. 2004	15193960				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4		Israel	CDC GDPinfo	7077	Hs.104839			Life sciences. 2004 Jul;75(8):1003-10	Ethnic differences of coronary artery disease-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry.		188825	27249	2	2004	We demonstrated an ethnic difference of CAD-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry. Further study is necessary to prove causal relation with CAD-associated SNPs and the prevalence of CAD.	Cohort 94 Israeli healthy populations (47 Ashkenazi Jews and 47 Yemenite Jews) obtained from the National Laboratory for the Genetics of Israeli Populations 										
136274		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Ogata, T.  et al. 2005	15944607				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		188825	28323	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
136275		pancreatic endocrine tumors	OTHER	OTH	Pancreatic Neoplasms	22	22q12.1-q13.2	TIMP3	31526801	31589028		Wild A et al. 2003	12629131				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4			KGB	7078	Hs.297324			The Journal of clinical endocrinology and metabolism. 2003 Mar;88(3):1367-73	Frequent methylation-associated silencing of the tissue inhibitor of metalloproteinase-3 gene in pancreatic endocrine tumors.		188826	5891	1	2003												
136270		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	17	17q25	TIMP2	74360653	74433067		O-Charoenrat, P.  et al. 2005	16275157				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Oral oncology. 2005	The role of genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes in head and neck cancer.		188825	23650	2	2005												
136271		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q25	TIMP2	74360653	74433067		de Souza, A. P.  et al. 2005	15691353				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Journal of clinical periodontology. 2005 Feb;32(2):207-11	Analysis of the MMP-9 (C-1562 T) and TIMP-2 (G-418C) gene promoter polymorphisms in patients with chronic periodontitis.		188825	23651	2	2005	 The results show that the polymorphism in the promoter region of MMP-9 gene is not associated with chronic periodontitis. The high frequency of GG genotype in the TIMP-2 gene promoter in the population studied did not allow any conclusion regarding its effect on chronic periodontitis.	Cohort 100 subjects 										
136272	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	17	17q25	TIMP2	74360653	74433067		Krex, D.  et al. 2003	14605322				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2817-21	Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms.		188825	23652	2	2003	 Our analysis of the entire coding region of 3 TIMPs, which are the main inhibitors of metalloproteinase activity in the extracellular matrix, failed to show an association between genetic polymorphisms and an intracranial aneurysm. These data do not support the hypothesis that genetic variants within these genes have an impact on aneurysm development in the white population.	Case:44 patients with intracranial aneurysms;Control:44/41/40 controls for the analysis of TIMP1 (n=44), -2:(n=41) and -3 (n=40)										
136267	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Hegab, A. E.  et al. 2005	15672858				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Respiratory medicine. 2005 Jan;99(1):107-10	Association analysis of tissue inhibitor of metalloproteinase2 gene polymorphisms with COPD in Egyptians.		188825	14262	2	2005	These results suggest that the +853 G/A polymorphism of the TIMP2 gene might be associated with COPD across ethnicities. In contrast, neither the distributions of genotype nor allele frequencies of -418 G/C were significantly different between the two groups, raising the possibility that a combination of different genetic factors contributes to the development of COPD in different ethnic groups.	Case:106 chronic obstructive pulmonary disease patients:Egypt;Control:72 healthy controls										
136268		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	17	17q25	TIMP2	74360653	74433067		Hegab, A. E.  et al. 2005	15691234			promoter	TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Respirology (Carlton, Vic). 2005 Jan;10(1):27-30	Promoter activity of human tissue inhibitor of metalloproteinase 2 gene with novel single nucleotide polymorphisms.		188825	14263	2	2005	 The SNP -418G > C, -177C > T and +34C > A, might not themselves be functional from a transcriptional point of view in the development of COPD, but may be in linkage disequilibrium with other functional polymorphisms.	Case chronic obstructive pulmonary disease patients;Control:controls										
136269	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Zhou, Y.  et al. 2004	14604886				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			Carcinogenesis. 2004 Mar;25(3):399-404	Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes		188825	23649	2	2004	These findings suggest that the presence of the variant allele in the promoter of MMP2 or TIMP2 may be a protective factor for the development of breast cancer.	Case:462 breast cancer patients;Control:509 frequency matched control women										
136264	N	intracranial aneurysms	CARDIOVASCULAR	CARD	Intracranial Aneurysm	17	17q25	TIMP2	74360653	74433067		Krex D 2003	14605322				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4	white		KGB	7077	Hs.104839			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2817-21	Tissue inhibitor of metalloproteinases-1, -2~~~ and -3 polymorphisms in a white population with intracranial aneurysms.		188825	5889	1	2003	 Our analysis of the entire coding region of 3 TIMPs, which are the main inhibitors of metalloproteinase activity in the extracellular matrix, failed to show an association between genetic polymorphisms and an intracranial aneurysm. These data do not support the hypothesis that genetic variants within these genes have an impact on aneurysm development in the white population.	Case:44 patients with intracranial aneurysms;Control:44/41/40 controls for the analysis of TIMP1 (n=44), -2:(n=41) and -3 (n=40)										
136265	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Zhou Y 2004	14604886			5' promoter	TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			KGB	7077	Hs.104839			Carcinogenesis. 2004 Mar;25(3):399-404	Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and t inhibitor of metalloproteinase-2 genes.		188825	5890	1	2004	These findings suggest that the presence of the variant allele in the promoter of MMP2 or TIMP2 may be a protective factor for the development of breast cancer.	Case:462 breast cancer patients;Control:509 frequency matched control women										
136266		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Hirano, K.  et al. 2001	11757622				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDPinfo	7077	Hs.104839			The European respiratory journal. 2001 Nov;18(5):748-52	Tissue inhibitor of metalloproteinases-2 gene polymorphisms in chronic obstructive pulmonary disease.		188825	14260	2	2001	These polymorphisms may be associated with the development of chronic obstructive pulmonary disease, decreasing the transcription and stability of the messenger ribonucleic acid, and available as genetic markers of susceptibility to the disease.	Control:40:controls;Case:88 COPD patients										
136261		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Ogata, T.  et al. 2005	15944607				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDPinfo	7076	Hs.522632			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		305370	28266	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
136262		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Barton, A.  et al. 2002	11981324				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDPinfo	7076	Hs.522632			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		305370	28584	2	2002	Review article											
136263		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Zee, R. Y.  et al. 2002	12082592				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDPinfo	7076	Hs.522632			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		305370	28670	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
136258	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Wollmer, M. A.  et al. 2002	12218659				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDPinfo	7076	Hs.522632			Psychiatric genetics. 2002 Sep;12(3):155-60	Genetic polymorphisms and cerebrospinal fluid levels of tissue inhibitor of metalloproteinases 1 in sporadic Alzheimer's disease.		305370	14258	2	2002	Our data show that neither genetic variability nor protein levels of TIMP-1 are associated with AD.	Case Alzheimer's disease patients from two independent and ethnically different populations.;Control controls from two independent and ethnically different populations.										
136259	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Krex, D.  et al. 2003	14605322				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDPinfo	7076	Hs.522632			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2817-21	Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms.		305370	14266	2	2003	 Our analysis of the entire coding region of 3 TIMPs, which are the main inhibitors of metalloproteinase activity in the extracellular matrix, failed to show an association between genetic polymorphisms and an intracranial aneurysm. These data do not support the hypothesis that genetic variants within these genes have an impact on aneurysm development in the white population.	Case:44 patients with intracranial aneurysms;Control:44/41/40 controls for the analysis of TIMP1 (n=44), -2:(n=41) and -3 (n=40)										
136260		asthma	IMMUNE	IMM	Asthma	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Lose, F.  et al. 2005	16061701				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2	Australian	Australia	CDC GDPinfo	7076	Hs.522632			Thorax. 2005 Aug;60(8):623-8	A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women.		305370	23648	2	2005	 This is the first reported association between a polymorphism in the TIMP-1 gene and asthma, and supports the hypothesis that the protease/antiprotease balance has an important role in this common disease.											
136255	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q12-q13	TIMELESS	55097173	55129433		Chae, S. C.  et al. 2004	14985107				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Korean	Korea	CDC GDPinfo	8914	Hs.118631			Biochemical and biophysical research communications. 2004 Mar;315(4):971-5	The exon 4 variations of Tim-1 gene are associated with rheumatoid arthritis in a Korean population.		603887	19858	2	2004	Our results strongly suggest that the variations of Tim-1 exon 4 might be associated with the susceptibility to RA.	Case rheumatoid arthritis patients;Control non-rheumatoid arthritis controls										
136256	N	intracranial aneurysms	CARDIOVASCULAR	CARD	Intracranial Aneurysm	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Krex D 2003	14605322				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2	white		KGB	7076	Hs.522632			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2817-21	Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms.		305370	5887	1	2003	 Our analysis of the entire coding region of 3 TIMPs, which are the main inhibitors of metalloproteinase activity in the extracellular matrix, failed to show an association between genetic polymorphisms and an intracranial aneurysm. These data do not support the hypothesis that genetic variants within these genes have an impact on aneurysm development in the white population.	Case:44 patients with intracranial aneurysms;Control:44/41/40 controls for the analysis of TIMP1 (n=44), -2:(n=41) and -3 (n=40)										
136257		rectal cancer	CANCER	CAN	Rectal Neoplasms	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Holten-Andersen M 2004	14687791				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			KGB	7076	Hs.522632			Eur J Cancer. 2004 Jan;40(1):64-72	Association between preoperative plasma levels of t inhibitor of metalloproteinases 1 and rectal cancer patient survival. a validation study.		305370	5888	1	2004												
136252	N	asthma	IMMUNE	IMM		12	12q12-q13	TIMELESS	55097173	55129433		Cui, T.  et al. 2004	15300647				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Chinese		CDC GDPinfo	8914	Hs.118631			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):403-6	[Exploring the possibility of a relationship between polymorphism in TIM-1 and allergic asthma in children of the Hans from Hubei province of China]		603887	14256	2	2004	 The genotype and allele frequencies in the two polymorphism sites in TIM-1 in healthy population of the Hans from Hubei province of China were similar to those in Japanese. The two polymorphism sites of TIM-1 are not associated with allergic asthma in Chinese children.	Control healthy population of Han;Case Han children with allergic asthma Hubei province of China										
136253	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12q12-q13	TIMELESS	55097173	55129433		Chae, S. C.  et al. 2004	15565336			promoter	Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Korean		CDC GDPinfo	8914	Hs.118631			Immunogenetics. 2005 Jan;56(10):696-701	The polymorphisms of Tim-1 promoter region are associated with rheumatoid arthritis in a Korean population.		603887	14257	2	2004	Our results strongly suggest that polymorphism in the Tim-1 promoter region might be associated with susceptibility to RA.	Control:controls;Case rheumatoid arthritis cases										
136254	Y	asthma; atopy	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Hypersensitivity|Genetic Predisposition to Disease	12	12q12-q13	TIMELESS	55097173	55129433		Chae, S. C.  et al. 2003	14637143				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Korean	Korea	CDC GDPinfo	8914	Hs.118631			Biochemical and biophysical research communications. 2003 Dec;312(2):346-50	The association of the exon 4 variations of Tim-1 gene with allergic diseases in a Korean population.		603887	19857	2	2003	Our results strongly suggest that the 5383+AF8-5397del variation site of Tim-1 exon 4 might be associated with atopic dermatitis susceptibility.	Control non-atopic controls;Case asthma and atopy patients										
136249	N	diurnal preferences	OTHER	OTH		12	12q12-q13	TIMELESS	55097173	55129433	n	Pedrazzoli M et al. 2000	11382904				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2			KGB	8914	Hs.118631			Sleep research online [electronic resource] :  SRO. 2000 ;3(2):73-6	A polymorphism in the human timeless gene is not associated with diurnal preferences in normal adults.		603887	6605	1	2000	Our results indicate that Q831R Timeless has no influence on morningness- eveningness tendencies in humans.	Cohort 528 random sample of normal volunteers enrolled in a population-based epidemiology study of the natural history of sleep disorders										
136250		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q12-q13	TIMELESS	55097173	55129433		Chae SC 2004	14985107				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Korean	Korea	KGB	8914	Hs.118631			Biochemical and biophysical research communications. 2004 Mar;315(4):971-5	The exon 4 variations of Tim-1 gene are associated with rheumatoid arthritis in a Korean population.		603887	6606	1	2004	Our results strongly suggest that the variations of Tim-1 exon 4 might be associated with the susceptibility to RA.	Case rheumatoid arthritis patients;Control non-rheumatoid arthritis controls										
136251	N	diurnal preferences	OTHER	OTH		12	12q12-q13	TIMELESS	55097173	55129433		Pedrazzoli, M.  et al. 2000	11382904				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2			CDC GDPinfo	8914	Hs.118631			Sleep research online [electronic resource] :  SRO. 2000 ;3(2):73-6	A polymorphism in the human timeless gene is not associated with diurnal preferences in normal adults		603887	14255	2	2000	Our results indicate that Q831R Timeless has no influence on morningness- eveningness tendencies in humans.	Cohort 528 random sample of normal volunteers enrolled in a population-based epidemiology study of the natural history of sleep disorders 										
136245	N	thrombocythemia, non-familial essential	HEMATOLOGICAL	HEM	Thrombocythemia, Hemorrhagic	3	3q27	THPO	185572466	185578626		Allen, A. J.  et al. 2001	11860444			promoter	Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000460.2			CDC GDPinfo	7066	Hs.1166			European journal of haematology. 2001 Oct;67(4):232-7	Lack of pathogenic mutations in the 5'-untranslated region of the thrombopoietin gene in patients with non-familial essential thrombocythaemia.		600044	19856	2	2001	These results demonstrate that mutations in the 5' UTR of the TPO gene are not the cause of the normal or elevated TPO levels in acquired ET.	Cohort 50 essential thrombocythaemia patients 										
136246		platelet count	HEMATOLOGICAL	HEM		3	3q27	THPO	185572466	185578626		Zeng, S. M.  et al. 2004	15307100				Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000460.2			CDC GDPinfo	7066	Hs.1166			American journal of hematology. 2004 Sep;77(1):21-Dec	Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count.		600044	23646	2	2004	These new SNPs found for the human TPO and TPOR genes help explain variations in blood PLT counts and may be useful in patient studies related to the roles of TPO and/or TPOR in disease.	Cohort 304 normal subjects with low or high plately counts 										
136247	Y	thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	17	17q11.2	THRA	35472588	35503646		Baida, A.  et al. 2005	15767343				Thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199334.2			CDC GDPinfo	7067	Hs.724			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):638-42	Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms.		190120	23647	2	2005	Therefore, our results indicate that the BAT-40 containing region and to a less extend the thyroid hormone receptor-alpha1 gene are related to thyroid cancer susceptibility. To our knowledge, this is the first study reporting the identification of genetic factors for thyroid cancer susceptibility.	Control:141/138 controls tested for THRA (n=141) and HSD3B2 (n=138);Case:212/207 Spanish thryoid cancer cases tested for THRA (n=212) and HSD3B2 (n=207)										
136242	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	3	3q27	THPO	185572466	185578626		Webb KE et al. 2001	11257273				Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000460.2			KGB	7066	Hs.1166			Atherosclerosis. 2001 Feb;154(3):703-11	Polymorphisms in the thrombopoietin gene are associated with risk of myocardial infarction at a young age.		600044	5882	1	2001	The observation of frequency differences between cases and controls in two independent samples strongly suggests that the TPO gene is involved as a risk factor for developing MI at a young age, but the identified polymorphisms are probably acting as markers for an unidentified functional mutation elsewhere in the gene locus.	Control:147 age and sex matched controls;Case:156 young Italian survivors of an MI;Case:176 young male Swedish survivors of a myocardial:infarction;Control:186 age-matched controls										
136243	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q27	THPO	185572466	185578626	n	Hirashiki A 2003	14563588	5713A3G			Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000460.2	Japanese	Japan	KGB	7066	Hs.1166			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		600044	5883	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
136244	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	3	3q27	THPO	185572466	185578626		Webb, K. E.  et al. 2001	11257273				Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000460.2			CDC GDPinfo	7066	Hs.1166			Atherosclerosis. 2001 Feb;154(3):703-11	Polymorphisms in the thrombopoietin gene are associated with risk of myocardial infarction at a young age.		600044	14252	2	2001	The observation of frequency differences between cases and controls in two independent samples strongly suggests that the TPO gene is involved as a risk factor for developing MI at a young age, but the identified polymorphisms are probably acting as markers for an unidentified functional mutation elsewhere in the gene locus.	Control:147 age and sex matched controls;Case:156 young Italian survivors of an MI;Case:176 young male Swedish survivors of a myocardial:infarction;Control:186 age-matched controls										
136239	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q13	THBS4	79366746	79414863		Wessel, J.  et al. 2004	15131549	A387P			Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3		United States	CDC GDPinfo	7060	Hs.211426			American heart journal. 2004 May;147(5):905-9	Replication of the association between the thrombospondin-4 A387P polymorphism and myocardial infarction.		600715	14251	2	2004	 Our findings suggest that the A387P variant of the THBS4 gene may be an important determinant in the development of MI at any age. Careful assessment of clinical covariates helped to unmask a significant association and therefore may be an important reason for why studies do not replicate.	Control:472 Caucasian control subjects;Case:474 Caucasian patients with myocardial infarction (not selected on the basis of age of onset nor family:history)	blood pressure diabetes obesity									
136240		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	5	5q13	THBS4	79366746	79414863		McCarthy, J. J.  et al. 2004	15121769				Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3			CDC GDPinfo	7060	Hs.211426			Journal of medical genetics. 2004 May;41(5):334-41	Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of111 candidate genes.		600715	25648	2	2004	 despite known caveats of genetic association studies, they can be an effective means of hypothesis generation and complement classic linkage studies for understanding the genetic basis of coronary heart disease.	Case:352 white subjects with familial, premature coronary heart disease;Control:418 population based Caucasians										
136241		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	5	5q13	THBS4	79366746	79414863		Boekholdt, S. M.  et al. 2002	12482844				Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3			CDC GDPinfo	7060	Hs.211426			Arteriosclerosis, thrombosis, and vascular biology. 2002 Dec;22(12):e24-7	Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction.		600715	25649	2	2002	 We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in premature CAD. Finally, we conclude that the THBS-2 polymorphism is associated with a reduced risk of premature MI.	Control:1071 age- and sex-matched population-based controls free of CAD;Case:503 patients with symptomatic coronaary artery disease occurring before the age of 50										
136236	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	6	6q27	THBS2	169357799	169396062		Boekholdt, S. M.  et al. 2002	12482844				Thrombospondin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003247.2			CDC GDPinfo	7058	Hs.371147			Arteriosclerosis, thrombosis, and vascular biology. 2002 Dec;22(12):e24-7	Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction.		188061	23645	2	2002	 We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in premature CAD. Finally, we conclude that the THBS-2 polymorphism is associated with a reduced risk of premature MI.	Control:1071 age- and sex-matched population-based controls free of CAD;Case:503 patients with symptomatic coronaary artery disease occurring before the age of 50										
136237	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q13	THBS4	79366746	79414863	n	Hirashiki A 2003	14563588	1186G3C (Ala387Pro)			Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3	Japanese	Japan	KGB	7060	Hs.211426			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		600715	5881	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
136238	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	5	5q13	THBS4	79366746	79414863		Zhou, X.  et al. 2003	14674882	A387P			Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3	Chinese	China	CDC GDPinfo	7060	Hs.211426			Clin Sci (Lond).. 2004 May;106(5):495-500	Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population.		600715	14250	2	2003	We concluded that a relationship between the TSP-4 A387P polymorphism and CAD or MI was unlikely in our population. Additional investigations should be performed in populations at different risk for coronary events in order to further elucidate the possible contribution of this polymorphism to cardiovascular disease.	Case:817 Chinese Han patients with coronary artery disease;Control:847 control subjects										
136233		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	15	15q15	THBS1	37660571	37676960		Zhou, X.  et al. 2004	15140581				Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2	Chinese	China	CDC GDPinfo	7057	Hs.164226			Thrombosis research. 2004 ;113(4-Mar):181-6	Genetic association analysis of myocardial infarction with thrombospondin-1 N700S variant in a Chinese population.		188060	19855	2	2004	 Our study suggested that the TSP-1 N700S polymorphism was rare and unrelated to MI in the Chinese Han population. Additional investigations should be performed in populations at different risk for coronary events in order to further elucidate the possible contribution of the polymorphism to cardiovascular disease.	Control:400 age- and sex-matched controls;Case:406 Chinese Han patients who survived an acute MI before age 60 years										
136234		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	15	15q15	THBS1	37660571	37676960		McCarthy, J. J.  et al. 2003	14557872				Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2			CDC GDPinfo	7057	Hs.164226			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		188060	28365	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
136235		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	6	6q27	THBS2	169357799	169396062		McCarthy, J. J.  et al. 2004	15121769				Thrombospondin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003247.2			CDC GDPinfo	7058	Hs.371147			Journal of medical genetics. 2004 May;41(5):334-41	Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of111 candidate genes.		188061	23644	2	2004	 despite known caveats of genetic association studies, they can be an effective means of hypothesis generation and complement classic linkage studies for understanding the genetic basis of coronary heart disease.	Case:352 white subjects with familial, premature coronary heart disease;Control:418 population based Caucasians										
136230		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Adams, G. T.  et al. 2003	12871600				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		188040	28526	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
136231	Y	brain hemorrhage; stroke; stroke, lacunar	CARDIOVASCULAR	CARD	Cerebral Infarction|Cerebral Hemorrhage|Genetic Predisposition to Disease	15	15q15	THBS1	37660571	37676960		Liu, X. N.  et al. 2004	15730804	G1678A			Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2	Chinese		CDC GDPinfo	7057	Hs.164226			Zhonghua yi xue za zhi. 2004 Dec;84(23):1959-62	[Correlation of thrombospondin-1 G1678A polymorphism to stroke: a study in Chinesepopulation]		188060	14248	2	2004	 AA genotypes in THBS-1 gene G1678A polymorphism may be a genetic risk factor of cerebral thrombosis in Chinese population.	Control:1,171 controls without cerebrovascular disease;Case:1,634 Chinese patients with stroke, including cerebral thrombosis, lacunar cerebral infarction, and cerebral hemorrhage										
136232	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	15	15q15	THBS1	37660571	37676960		Boekholdt, S. M.  et al. 2002	12482844				Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2			CDC GDPinfo	7057	Hs.164226			Arteriosclerosis, thrombosis, and vascular biology. 2002 Dec;22(12):e24-7	Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction.		188060	14249	2	2002	 We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in premature CAD. Finally, we conclude that the THBS-2 polymorphism is associated with a reduced risk of premature MI.	Control:1071 age- and sex-matched population-based controls free of CAD;Case:503 patients with symptomatic coronaary artery disease occurring before the age of 50										
136227		fetal loss, late	REPRODUCTION	REP	Abortion, Habitual|Fetal Death	20	20p12-cen	THBD	22974269	22978301		Franchi, F.  et al. 2001	11552992				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			British journal of haematology. 2001 Sep;114(3):641-6	Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss.		188040	23643	2	2001	In conclusion, identified mutations in the TM and EPCR genes of women with unexplained fetal loss are more prevalent compared with women with no obstetrical complications.	Control:236 women who gave birth to at least one healthy baby and had no history of late fetal death or obstetrical complications;Case:95 women with unexplained late fetal loss (> 20 weeks)										
136228		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Ranjith, N.  et al. 2003	14523329				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Indian	India	CDC GDPinfo	7056	Hs.2030			Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction		188040	25647	2	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
136229		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Horibe, H.  et al. 2004	15135268				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Atherosclerosis. 2004 May;174(1):181-7	Genetic risk for restenosis after coronary balloon angioplasty.		188040	26660	2	2004	Genotyping of these polymorphisms may prove informative for assessment of genetic risk for restenosis after POBA.	Cohort 730 individuals (424 men, 306 women) who underwent successful plain old balloon angioplasty in at least one major coronary artery and were examined angiographically 6 months after the procedure 										
136224	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Borg, A. J.  et al. 2002	12297717				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Australian	Australia|New Zealand	CDC GDPinfo	7056	Hs.2030			Gynecologic and obstetric investigation. 2002 ;54(1):43-5	Thrombomodulin Ala455Val dimorphism is not associated with pre-eclampsia in Australian and New Zealand women.		188040	19851	2	2002	This report explores the Ala455Val point mutation in 280 women as a predictor of pre-eclampsia with the conclusion that in this regard, the dimorphism is essentially neutral.	Cohort 280 women 										
136225		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Ohlin, A. K.  et al. 2004	15183044			promoter	Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Thrombosis research. 2004 ;113(5):319-26	Genetic variation in the human thrombomodulin promoter locus and prognosis after acute coronary syndrome		188040	19853	2	2004	 We identified 10 point mutations and 2 small deletions: -1861 C/A, -1852 C/G, -1803 G/C, -1752 G/C, -1213/1212 delTT, -1089 C/G, -1088 C/T, -1083/1082 delCC, -1066 A/C, -801 C/G, -651 A/C and -52 G/A. Two of the mutations, -1752 G/C and -1213/1212 delTT, were frequent in the patients as well as in the controls, while all the others were rare. The only significant finding was that both -1752 G/C and -1213/1212 delTT were associated with a lower than normal risk of suffering a clinical event among smokers at 30 days and 2 years. We did not gain any support for the hypothesis that TM mutations confer an increased risk of MI or mortality.	Control:controls;Case:182 patients with acute coronary syndrome										
136226	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	20	20p12-cen	THBD	22974269	22978301		Konstantoulas, C. J.  et al. 2004	15488871	Risk allele is a haplotype comprising a  coding region variant (455Val) and distal promoter variant (-1208delTT)			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Atherosclerosis. 2004 Nov;177(1):97-104	A combination of two common thrombomodulin gene variants (-1208-1209TTdelTT and A455V) influence risk of coronary heart disease: a prospective studyin men.	rs	188040	19854	2	2004	Overall, these findings may suggest that the common TM allele confers protection against the adverse CHD effect of either plasma triglyceride-containing lipoproteins, or the underlying atherosclerotic mechanism of the metabolic syndrome, and that this process is defective in carriers of V/delTT.	Cohort 2,700 middle age men FROM THE Northwick Park Heart Study uk 	metabolic syndrome									
136221	N	thrombosis; varicose veins	CARDIOVASCULAR	CARD	Venous Thrombosis|Varicose Veins	20	20p12-cen	THBD	22974269	22978301		Le Flem, L.  et al. 2001	11231927			promoter	Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Arteriosclerosis, thrombosis, and vascular biology. 2001 Mar;21(3):445-51	Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.		188040	19848	2	2001	None of the 3 tested mutations of the thrombomodulin gene was significantly associated with thrombosis	Case:327 subjects from the Paris Thrombosis Study;Control:398 unspecified controls										
136222	Y	stroke; atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Cerebrovascular Accident	20	20p12-cen	THBD	22974269	22978301		Li, Y.  et al. 2001	11257274			promoter	Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Atherosclerosis. 2001 Feb;154(3):713-9	Functional mutation in the promoter region of thrombomodulin gene in relation to carotid atherosclerosis.		188040	19849	2	2001	Our findings suggest that G-33A mutation reduces the thrombomodulin promoter activity and is associated with carotid atherosclerosis in younger subjects.	Control:257 age- and sex-matched controls;Case:333 patients with ischemic stroke										
136223		thrombophilia	HEMATOLOGICAL	HEM	Thrombophilia|Recurrence	20	20p12-cen	THBD	22974269	22978301		Faioni, E. M.  et al. 2002	12139752				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			British journal of haematology. 2002 Aug;118(2):595-9	Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.		188040	19850	2	2002	The allelic frequency of the Ala455Val polymorphism was identical in patients and controls. Considering the lack of a phenotype and the costly screening procedure, we recommend that thrombomodulin defects be sought only for research purposes.	Case:192 patients with at least one thrombotic event;Control:369 age- and sex-matched asymptomatic controls										
136217		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Chao, T. H.  et al. 2004	14715348				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Chinese		CDC GDPinfo	7056	Hs.2030			The American journal of cardiology. 2004 Jan;93(2):204-7	Relation of thrombomodulin gene polymorphisms to acute myocardial infarction in patients		188040	14244	2	2004	Despite the fact that TM promoter G-33A and C1418T polymorphisms are common in the Chinese population, the association between G-33A mutation and premature AMI indicates that we must focus on promoter G-33A polymorphism rather than C1418T polymorphism in terms of the role of TM gene mutation on premature AMI.	Control:143:controls;Case:145 Chinese patients with premature acute myocardial:infarction										
136218	Y	cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction|Hematologic Diseases	20	20p12-cen	THBD	22974269	22978301		Cole, J. W.  et al. 2004	15574195	Ala455Val			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			BMC neurology [electronic resource]. 2004 Dec;4(1):21	Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population:the Stroke Prevention in Young Women Study.		188040	14245	2	2004	 Among women aged 15 to 44 years, the AA genotype is more prevalent among blacks than whites and is associated with increased risk of early onset ischemic stroke. Removing strokes potentially related to cardioembolic phenomena increased this association. Further studies are needed to determine whether this polymorphism is functionally related to thrombomodulin expression or whether the association is due to population stratification or linkage to a nearby functional polymorphism.	Case:141 cases of first ischemic stroke (44% black) among women 15 to 44 years of age from 59 hospitals in the greater Baltimore-Washington area;Control:210 control subjects (35% black) who were identified by random digit dialing and frequency matched to the cases by age and geographical region of residence										
136219		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Zhao, J.  et al. 2005	15837080				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Chinese	China	CDC GDPinfo	7056	Hs.2030			International journal of cardiology. 2005 Apr;100(3):383-8	Association study of the thrombomodulin -33G>A polymorphism with coronary artery disease and myocardial infarction in Chinese Han population.		188040	14246	2	2005	 Our results seemed not to support a significant association of the TM -33G>A polymorphism with CAD, MI or premature MI in our population.	Case:808 patients with coronary artery disease or a history of an acute myocardial infarct;Control:813 age- and sex-matched controls										
136214		placental abruption	REPRODUCTION	REP	Abruptio Placentae	20	20p12-cen	THBD	22974269	22978301		Hira, B.  et al. 2002	12066950				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	South African	South Africa	CDC GDPinfo	7056	Hs.2030			BJOG. 2002 May;109(5):574-5	Polymorphisms in various coagulation genes in black South African women with placental abruption.		188040	14241	2	2002	The Factor V Leiden and prothrombin variant gene alleles were not detected in either patient or control groups. The thrombomodulin polymorphic variant was not seen in the patient group but three heterozygotes (1%) were found in the controls. No homozygotes for the MTHFR T677 variant were detected in the patients but two (1%) were noted in the controls; the normal and heterozygote genotype and allele frequencies for this polymorphism were similar in the two groups.	Case:100 Zulu-speaking black South African women with placental abruption;Control:217:controls										
136215		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Park, H. Y.  et al. 2002	12135317	(-33G/A)			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Korean		CDC GDPinfo	7056	Hs.2030			Hypertension research. 2002 May;25(3):389-94	Association of G-33A polymorphism in the thrombomodulin gene with myocardial infarction in Koreans.		188040	14242	2	2002	These results indicated that G-33A polymorphism in TM might be a genetic risk factor for myocardial infarction.	Control:102 controls who had no significant stenosis;Case:85 myocardial infarction patients:Korea										
136216	N	thromboembolism, venous; thrombosis, deep vein	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	20	20p12-cen	THBD	22974269	22978301			12871544	Ala455Val			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Journal of thrombosis and haemostasis. 2003 Jan;1(1):88-94	Prospective study of the A455V polymorphism in the thrombomodulin gene, plasma thrombomodulin, and incidence of venous thromboembolism: the LITEStudy.		188040	14243	2	2003	There were no associations of age-adjusted sTM or TMA455V genotype with overall venous thromboembolism or with thrombosis in any subtype of venous thromboembolism.	Case:305 cases of venous thrombosis from the Atherosclerosis Risk in Communities Study and the Cardiovascular Health Study;Control:626 controls from the Atherosclerosis Risk in Communities Study and the Cardiovascular Health:Study										
136210		Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Chao TH 2004	14715348				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			KGB	7056	Hs.2030			The American journal of cardiology. 2004 Jan;93(2):204-7	Relation of thrombomodulin gene polymorphisms to acute myocardial infarction in patients		188040	5879	1	2004	Despite the fact that TM promoter G-33A and C1418T polymorphisms are common in the Chinese population, the association between G-33A mutation and premature AMI indicates that we must focus on promoter G-33A polymorphism rather than C1418T polymorphism in terms of the role of TM gene mutation on premature AMI.	Control:143:controls;Case:145 Chinese patients with premature acute myocardial:infarction										
136211		smoking	OTHER	OTH	Tobacco Use Disorder|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Olsson C 2004	14739699				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Australian	Victoria	KGB	7056	Hs.2030			Behavior genetics. 2004 Jan;34(1):85-91	Association between dependent smoking and a polymorphism in the tyrosine hydroxylase gene in a prospective population-based study of adolescent health.		188040	5880	1	2004												
136213	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Li, Y. H.  et al. 2002	11848462	(-33G/A)		promoter	Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Thrombosis and haemostasis. 2002 Jan;87(1):86-91	Synergistic effect of thrombomodulin promoter -33G/A polymorphism and smoking on the onset of acute myocardial infarction.		188040	14240	2	2002	We concluded that there was a significant association between the thrombomodulin -33G/A polymorphism and myocardial infarction in our population, especially in young patients. The clinical effect of this genetic factor was enhanced by smoking.	Case:278 patients (mean age 57.5 years, 241 men) with documented myocardial infarction;Control:450 age- and sex-matched control subjects	smoking (tobacco)									
136206	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Ireland H et al. 1997	9236408				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			KGB	7056	Hs.2030			Circulation. 1997 Jul;96(1):15-8	Thrombomodulin gene mutations associated with myocardial infarction.		188040	5875	1	1997	 The findings suggest that mutations in the promoter region of the thrombomodulin gene may constitute a risk for arterial thrombosis.											
136207	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction|Disease Susceptibility	20	20p12-cen	THBD	22974269	22978301		Norlund L et al. 1997	9157575				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			KGB	7056	Hs.2030			Thrombosis and haemostasis. 1997 Feb;77(2):248-51	A common thrombomodulin amino acid dimorphism is associated with myocardial infarction.		188040	5876	1	1997												
136208	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301	n	Hirashiki A 2003	14563588	2136C3T (Ala455Val)			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Japanese	Japan	KGB	7056	Hs.2030			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		188040	5877	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
136203	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Park HY et al. 2002	12135317				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Korean		KGB	7056	Hs.2030			Hypertension research. 2002 May;25(3):389-94	Association of G-33A polymorphism in the thrombomodulin gene with myocardial infarction in Koreans.		188040	5872	1	2002	These results indicated that G-33A polymorphism in TM might be a genetic risk factor for myocardial infarction.	Control:102 controls who had no significant stenosis;Case:85 myocardial infarction patients:Korea										
136204		coronary artery disease and plasma soluble thrombomodulin	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Diabetes Complications	20	20p12-cen	THBD	22974269	22978301		Li YH et al. 2000	11078228			promoter	Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2		Taiwan	KGB	7056	Hs.2030			The American journal of cardiology. 2000 Jan;85(1):12-Aug	G-33A mutation in the promoter region of thrombomodulin gene and its association with coronary artery disease and plasma soluble thrombomodulin levels.		188040	5873	1	2000												
136205	N	pre-eclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301	n	Borg AJ et al. 2002	12297717				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Australian and New Zealand women.	Australia|New Zealand	KGB	7056	Hs.2030			Gynecologic and obstetric investigation. 2002 ;54(1):43-5	Thrombomodulin Ala455Val dimorphism is not associated with pre-eclampsia in Australian and New Zealand women.		188040	5874	1	2002	This report explores the Ala455Val point mutation in 280 women as a predictor of pre-eclampsia with the conclusion that in this regard, the dimorphism is essentially neutral.	Cohort 280 women										
136198		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Diabetes Mellitus	11	11p15.5	TH	2141734	2149611		Ho, G. Y.  et al. 2003	12610512				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			British journal of cancer. 2003 Jan;88(2):263-9	Polymorphism of the insulin gene is associated with increased prostate cancer risk.		191290	25643	2	2003	The polymorphism of INS may play a role in the aetiology of prostate cancer. Given the high prevalence of the CC genotype and its association with late age of onset of low-grade tumours, this polymorphism may contribute to the unique characteristics of prostate cancer, namely a high prevalence of indolent cancers and the dramatic increase in incidence with age.	Case:126 prostate cancer cases;Control:126 paired controls matched on age, race and countries of origin										
136199	Y	body mass; triglycerides; blood pressure, arterial	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease|Body Weight	11	11p15.5	TH	2141734	2149611		Rodriguez, S.  et al. 2004	14749349				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Human molecular genetics. 2004 Apr;13(7):715-25	Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits.	rs680, rs689	191290	25644	2	2004	We propose that long repeat insertion in the insulin gene promoter (	Cohort 2,743 males 51-62 years old 										
136200	Y	insulin; obesity	METABOLIC	MET	Obesity|Birth Weight	11	11p15.5	TH	2141734	2149611		Rodriguez, S.  et al. 2006	16251897				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			European journal of human genetics. 2006 Jan;14(1):109-16	Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes.		191290	25645	2	2005												
136201		personality traits	PSYCH	PSY		11	11p15.5	TH	2141734	2149611			16360899				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Neuroscience research. 2005	Combined analysis of association between personality traits and three functional polymorphisms in the tyrosine hydroxylase, monoamine oxidase A, and catechol-O-methyltransferase genes		191290	25646	2	2005												
136195	N	myocardial infarct; cerebral infarct; left ventricular hypertrophy; brain hemorrhage; abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Cardiomegaly|Myocardial Infarction|Hypertension	11	11p15.5	TH	2141734	2149611		Klintschar, M.  et al. 2005	15735319				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Disease markers. 2005 ;21(1):13-Sep	TH01, a tetrameric short tandem repeat locus in the tyrosine hydroxylase gene: association withmyocardial hypertrophy and death from myocardial infarction?		191290	19846	2	2005	Our data thus suggest that TH01 long alleles appear not to lead to a significant increase in the incidence of myocardial hypertrophy or other hypertension associated diseases. This could be explained by a relatively small impact of the TH01 genotype on the blood pressure or by counteraction of another mechanism related to catecholamines and their effect on the human body.	Control:124 cases of death unrelated to hypertension;Case:172 casualties from hypertension-associated diseases:(n=172)										
136196		myocardial infarct	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Hypertrophy, Left Ventricular|Myocardial Infarction|Hypertension	11	11p15.5	TH	2141734	2149611		Klintschar, M.  et al. 2005	16139102				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Forensic science international. 2005 Oct;153(3-Feb):142-6	DNA polymorphisms in the tyrosin hydroxylase and GNB3 genes: association with unexpected death fromacute myocardial infarction and increased heart weight.		191290	23641	2	2005												
136197		beta-cell function; insulin resistance	METABOLIC	MET	Insulin Resistance	11	11p15.5	TH	2141734	2149611		Paolisso, G.  et al. 2001	11738155				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Experimental gerontology. 2001 Dec;37(1):149-56	Low insulin resistance and preserved beta-cell function contribute to human longevity but are not associated with TH-INS genes		191290	23642	2	2001	In conclusion, centenarians have a lower degree of IR and a preserved beta-cell function in comparison to noncentenarians, but the cause of such metabolic differences, which are likely does not lie in this genomic region.	Cohort 466 individuals whose age ranged from 28 to more than 100 years 										
136191		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	TH	2141734	2149611		Berka, N.  et al. 2004	15303408				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	African American		CDC GDPinfo	7054	Hs.435609			Journal of the National Medical Association. 2004 Aug;96(8):1042-6	IDDM2 and the polymorphism of the human tyrosine hydroxylase (hTH) gene in African Americans with type-1 diabetes.		191290	14235	2	2004	This data shifts the focus from hTH to the VNTR at the insulin gene for IDDM2, the second major candidate gene for type-1 diabetes.	Control:controls;Case African American type 1 diabetic patients										
136192	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	TH	2141734	2149611		Dahmen, N.  et al. 2005	15722952	Val-81-Met			Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Psychiatric genetics. 2005 Mar;15(1):13-6	Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism.		191290	14236	2	2005	Our results suggest a role for tyrosine hydroxylase in early-onset alcoholism.	Case:159 patients in a psychiatric unit with alcohol:dependence;Control:92 Healthy volunteers										
136193	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Ota, M.  et al. 2001	11326301				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Japanese		CDC GDPinfo	7054	Hs.435609			Molecular psychiatry. 2001 May;6(3):315-9	Exon 3 of tyrosine hydroxylase gene: lack ofassociation with Japanese schizophrenic patients.		191290	19842	2	2001	These results indicate that exon 3 of the human TH gene lacks association with schizophrenia in Japanese patients.	Control:175 healthy controls:Japan;Case:201 patients with schizophrenia:Japan										
136188	N	high-altitude pulmonary edema	OTHER	OTH	Pulmonary Edema|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Hanaoka, M.  et al. 2003	12527603				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Chest. 2003 Jan;123(1):54-8	Polymorphisms of the tyrosine hydroxylase gene in subjects susceptible to high-altitude pulmonary edema.		191290	14231	2	2003	 The genetic susceptibility of HAPE, specifically the blunted HVR in HAPE, is probably not associated with the mutations of the TH gene, implying that these two polymorphisms may not be a sufficient genetic marker for predicting a predisposition to the susceptibility to HAPE.	Case:43 subjects with a history of high-altitude pulmonary:edema;Control:51 healthy climbers without a history of high-altitude pulmonary edema										
136189	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Pae, C. U.  et al. 2003	12759555	VNTR			Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Korean		CDC GDPinfo	7054	Hs.435609			Neuropsychobiology. 2003 ;47(3):131-6	VNTR Polymorphism of Tyrosine Hydroxylase Gene and Schizophrenia in the Korean Population		191290	14233	2	2003	This finding suggests that the TH10 allele may be a liability factor for positive schizophrenia in the Korean population.	Case:344 patients with schizophrenia:Korea;Control:391 healthy volunteers										
136190	Y	tobacco use disorder	UNKNOWN	UNK	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Olsson, C.  et al. 2004	14739699				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2		Victoria	CDC GDPinfo	7054	Hs.435609			Behavior genetics. 2004 Jan;34(1):85-91	Association between dependent smoking and a polymorphism in the tyrosine hydroxylase gene in a prospective population-based study of adolescent health		191290	14234	2	2004	These preliminary results replicate a previous association between tobacco use and the K4 allele of the TH gene (Lerman et al., 1997). The potential significance of including time to first cigarette in definitions of tobacco dependence and the possible role that these TH variants might play in tobacco dependence are discussed.	Control:56 adolescents who had used tobacco but had remained low-level social smokers across each wave of data;Case:58/37 smoking more than 6 days per week and more than 10 cigarettes per day during wave 5 (year 2000) and at lfeast one prior wave (n=58) and patients smoking within an hour of waking (n=37):1998-1997										
136184	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611	n	Ota M et al. 2001	11326301				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Japanese		KGB	7054	Hs.435609			Molecular psychiatry. 2001 May;6(3):315-9	Exon 3 of tyrosine hydroxylase gene: lack of association with Japanese schizophrenic patients.		191290	5867	1	2001	These results indicate that exon 3 of the human TH gene lacks association with schizophrenia in Japanese patients.	Control:175 healthy controls:Japan;Case:201 patients with schizophrenia:Japan										
136185	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Wei J et al. 1995	7551967			intron	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatric genetics. 1995 ;5(2):83-8	Association of polymorphic VNTR region in the first intron of the human TH gene with disturbances of the catecholamine pathway in schizophrenia.		191290	5868	1	1995												
136186	N	affective disorder	PSYCH	PSY	Mood Disorders	11	11p15.5	TH	2141734	2149611	n	Cavazzoni P et al. 1996	8912950				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatry research. 1996 Sep;64(2):91-6	Lithium-responsive affective disorders: no association with the tyrosine hydroxylase gene.		191290	5869	1	1996												
136187	Y	body mass; left ventricular function; blood pressure; left ventricular structure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Linhart, A.  et al. 2002	12113410				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			British journal of biomedical science. 2002 ;59(2):90-4	Association between tyrosine hydroxylase polymorphisms and left ventricular structure in young normotensive men.		191290	14230	2	2002	The results suggest an important association between the MM genotype of Val-81-Met TH gene polymorphism and increased LV cavity dimension and mass in a young normotensive male population, indicating an important role for genetic determination of the sympathetic system in LV growth.	Cohort 108 										
136179		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Schizophrenia	11	11p15.5	TH	2141734	2149611		Kunugi H et al. 1998	9613851				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2		Japan	KGB	7054	Hs.435609			American journal of medical genetics. 1998 Mar;81(2):131-3	Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.		191290	5862	1	1998												
136181	Y	insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Depressive Disorder	11	11p15.5	TH	2141734	2149611		Chiba M et al. 2000	11016895				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Metabolism:  clinical and experimental. 2000 Sep;49(9):1145-9	Tyrosine hydroxylase gene microsatellite polymorphism associated with insulin resistance in depressive disorder.		191290	5864	1	2000												
136183	Y	alcohol-withdrawal delirium	CHEMDEPENDENCY	CHEM	Hallucinations|Alcohol Withdrawal Delirium|Alcoholism|Substance Withdrawal Syndrome|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Sander T et al. 1998	9564682				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatric genetics. 1998 ;8(1):13-7	Possible allelic association of a tyrosine hydroxylase polymorphism with vulnerability to alcohol-withdrawal delirium.		191290	5866	1	1998												
136175	Y	left ventricular structure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Linhart A et al. 2002	12113410				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			British journal of biomedical science. 2002 ;59(2):90-4	Association between tyrosine hydroxylase polymorphisms and left ventricular structure in young normotensive men.		191290	5858	1	2002	The results suggest an important association between the MM genotype of Val-81-Met TH gene polymorphism and increased LV cavity dimension and mass in a young normotensive male population, indicating an important role for genetic determination of the sympathetic system in LV growth.	Cohort 108										
136176	N	autism	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Autistic Disorder	11	11p15.5	TH	2141734	2149611	n	Comings DE et al. 1995	7786965				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Biological psychiatry. 1995 Apr;37(7):484-6	No association of a tyrosine hydroxylase gene tetranucleotide repeat polymorphism in autism Tourette syndrome or ADHD.		191290	5859	1	1995												
136177	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Jonsson EG et al. 1998	9684913				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			European archives of psychiatry and clinical neuroscience. 1998 ;248(2):61-3	Failure to replicate an association between a rare allele of a tyrosine hydroxylase gene microsatellite and schizophrenia.		191290	5860	1	1998												
136178	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611	n	Serretti A et al. 1999	10593456	SNP		other	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Italian (Caucasian)		Serretti	7054	Hs.435609	schizophrenia		Schizophrenia research. 1999 Nov;40(2):171-2	Lack of association between tryptophan hydroxylase gene and psychotic symptomatology in schizophrenia.		191290	5861	1	1999		Case:SKZ: 119; DELUSIONAL: 34										
136170		Manic depressive illness	PSYCH	PSY	Bipolar Disorder	11	11p15.5	TH	2141734	2149611		Malafosse A et al. 1997	9440122				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Neurobiology of disease. 1997 ;4(5):337-49	Manic depressive illness and tyrosine hydroxylase gene: linkage heterogeneity and association.		191290	5853	1	1997												
136172	Y	catecholamine turnover	OTHER	OTH		11	11p15.5	TH	2141734	2149611		Wei J et al. 1997	9335223			intron	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Life sciences. 1997 ;61(14):1341-7	Possible association of catecholamine turnover with the polymorphic (TCAT)n repeat in the first intron of the human tyrosine hydroxylase gene.		191290	5855	1	1997												
136173		bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p15.5	TH	2141734	2149611		Souery D et al. 1999	10490711				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			American journal of medical genetics. 1999 Oct;88(5):527-32	Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: a multicenter association study.		191290	5856	1	1999												
136166	Y	mood disorder.	PSYCH	PSY	Psychomotor Agitation|Mood Disorders|Bipolar Disorder	11	11p15.5	TH	2141734	2149611	0.006	Serretti A et al. 1998	9613850	intron 1 polymorphism	possible	other	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Italian (Caucasian)		Serretti	7054	Hs.435609	depressive symptomatology		American journal of medical genetics. 1998 Mar;81(2):127-30	Tyrosine hydroxylase gene associated with depressive symptomatology in mood disorder.		191290	5849	1	1998		Case:46										
136167	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11p15.5	TH	2141734	2149611		Sharma P et al. 1998	9774362				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Hypertension. 1998 Oct;32(4):676-82	Positive association of tyrosine hydroxylase microsatellite marker to essential hypertension.		191290	5850	1	1998												
136169		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Jindra A et al. 2000	11193127				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Blood pressure. 2000 ;9(5):250-4	Association analysis of two tyrosine hydroxylase gene polymorphisms in normotensive offspring from hypertensive families.		191290	5852	1	2000	 The studied TH polymorphisms do not appear to be associated with family history of essential hypertension. Nevertheless, some genotypes of TH might be related to disturbance of plasma noradrenaline concentration.											
136161		lamellar ichthyosis	OTHER	OTH	Ichthyosis, Lamellar	14	14q11.2	TGM1	23788159	23802256		Pigg M et al. 2000	10694685				Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000359.1		Norway	KGB	7051	Hs.508950			Prenatal diagnosis. 2000 Feb;20(2):132-7	Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis.		190195	5845	1	2000												
136162	N	celiac disease	IMMUNE	IMM	Celiac Disease	20	20q12	TGM2	36190277	36227114		Popat, S.  et al. 2001	11742196				Transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004613.2	Swedish	Sweden	CDC GDPinfo	7052	Hs.517033			European journal of gastroenterology & hepatology. 2001 Dec;13(12):1477-9	Germline mutations in TGM2 do not contribute to coeliac disease susceptibility in the Swedish population.		190196	19841	2	2001	 There is no evidence from this study that mutations in TGM2, which lead to an altered protein, contribute to CD susceptibility.	Cohort 52 children with biopsy proven celiac disease attending one Swedish centre 										
136163		Longevity	AGING	AGE		11	11p15.5	TH	2141734	2149611		De Luca M 2001	11672987				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			TJB	7054	Hs.435609			Experimental gerontology. 2001 Nov;36(10):1663-71			191290	5846	1	2001												
136164	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Kurumaji A et al. 2001	11475015			intron	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Japanese		KGB	7054	Hs.435609			J Neural Transm. 2001 ;108(4):489-95	An association of the polymorphic repeat of tetranucleotide (TCAT) in the first intron of the human tyrosine hydroxylase gene with schizophrenia in a Japanese sample.		191290	5847	1	2001												
136158		prostate cancer; keloid disease	CANCER	CAN		1	1p33-p32	TGFBR3	91920574	92144147		Bayat, A.  et al. 2002	12358857				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDPinfo	7049	Hs.482390			European journal of immunogenetics. 2002 Oct;29(5):445-6	Novel single nucleotide polymorphisms in the 3'-UTR of the TGFbetaRI and TGFbetaRIII genes.		600742	23640	2	2002	The observed heterozygosities of TGFbetaRI and TGFbetaRIII gene polymorphisms in the control population were 43 and 33%, respectively, suggesting these SNPs could be useful markers in disease association studies.	Cohort 91 controls 										
136159		Dupuytren's disease	OTHER	OTH	Dupuytren's Contracture|Genetic Predisposition to Disease	1	1p33-p32	TGFBR3	91920574	92144147		Bayat, A.  et al. 2003	12873459				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDPinfo	7049	Hs.482390			British journal of plastic surgery. 2003 Jun;56(4):328-33	Genetic susceptibility to Dupuytren's disease:transforming growth factor beta receptor (TGFbetaR) gene polymorphisms and Dupuytren's disease.		600742	25642	2	2003	However, there were no significant difference in genotype or allele frequency distributions between cases and controls for the TGFbetaRII and TGFbetaRIII SNPs.	Control:181:controls;Case:183 Dupuytren's disease patients										
136160		keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	1	1p33-p32	TGFBR3	91920574	92144147		Bayat, A.  et al. 2004	15009106				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDPinfo	7049	Hs.482390			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease:transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		600742	27248	2	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
136155		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		3	3p22	TGFBR2	30622997	30710637		Watanabe, Y.  et al. 2002	12202987				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		190182	27852	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
136156		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	3	3p22	TGFBR2	30622997	30710637		Sadetzki, S.  et al. 2005	15824172				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1		Israel	CDC GDPinfo	7048	Hs.82028			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		190182	28115	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
136157		bone density	METABOLIC	MET	Osteoporosis	3	3p22	TGFBR2	30622997	30710637		Mizuguchi, T.  et al. 2004	14727154				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1		Japan	CDC GDPinfo	7048	Hs.82028			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		190182	28116	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
136152		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p22	TGFBR2	30622997	30710637		Jin, Q.  et al. 2004	15305380				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			International journal of cancer. Journal international du cancer. 2004 Oct;112(1):94-9	Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers.		190182	25641	2	2004	Thus, none of the studied polymorphisms from the TGF-beta1 and its receptor genes was found to influence significantly susceptibility to breast cancer. The possible contribution of 6A/6A homozygosity in the TGF-betaRI gene to breast cancer needs to be confirmed in an independent study.	Control etnically and geographically matched controls;Case Polish familial and Finnish unselected breast cancer cases and familial breast cancer cases from sweden and Germany										
136153	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p22	TGFBR2	30622997	30710637		Verma, L.  et al. 2001	11158177				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			Journal of medical genetics. 2001 Feb;38(2):E7	Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.		190182	26658	2	2001	In summary, we did not detect evidence to suggest that germline TGFBR2 or CDH1 mutations are a frequent occurrence in patients with early onset colorectal cancer or hereditary nonpolyposis colon cancer syndrome.	Control:30 normal controls;Case:67 patients with early onset colorectal cancer										
136154		keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	3	3p22	TGFBR2	30622997	30710637		Bayat, A.  et al. 2004	15009106				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease:transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		190182	26659	2	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
136148		cleft palate and calvaria defects.	DEVELOPMENTAL	DEV	Cleft Palate	3	3p22	TGFBR2	30622997	30710637		Ito Y 2003	12975342				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			KGB	7048	Hs.82028			Development (Cambridge, England). 2003 Nov;130(21):5269-80	Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.		190182	5843	1	2003												
136149		pancreaticobiliary maljunction-associated biliary tract tumors	CANCER	CAN	Biliary Tract Neoplasms|Congenital Abnormalities|Genetic Predisposition to Disease	3	3p22	TGFBR2	30622997	30710637		Nagai M et al. 1999	10470113				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			KGB	7048	Hs.82028			Anticancer research. 1999 May-Jun;19(3A):1765-8	Analysis of microsatellite instability TGF-beta type II receptor gene mutations and hMSH2 and hMLH1 allele losses in pancreaticobiliary maljunction-associated biliary tract tumors.		190182	5844	1	1999												
136150		Dupuytren's disease	OTHER	OTH	Dupuytren's Contracture|Genetic Predisposition to Disease	3	3p22	TGFBR2	30622997	30710637		Bayat, A.  et al. 2003	12873459				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			British journal of plastic surgery. 2003 Jun;56(4):328-33	Genetic susceptibility to Dupuytren's disease:transforming growth factor beta receptor (TGFbetaR) gene polymorphisms and Dupuytren's disease.		190182	23639	2	2003	However, there were no significant difference in genotype or allele frequency distributions between cases and controls for the TGFbetaRII and TGFbetaRIII SNPs.	Control:181:controls;Case:183 Dupuytren's disease patients										
136145		keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Bayat, A.  et al. 2004	15009106				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease:transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		190181	25639	2	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
136146		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		9	9q22	TGFBR1	100907232	100956294		Watanabe, Y.  et al. 2002	12202987				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		190181	27640	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
136147	Y	gastric cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms	3	3p22	TGFBR2	30622997	30710637		Deguchi R et al. 2001	11251969				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			KGB	7048	Hs.82028			International journal of cancer. Journal international du cancer. 2001 Feb;91(4):481-5	Association between CagA+ Helicobacter pylori infection and p53 bax and transforming growth factor-beta-RII gene mutations in gastric cancer patients.		190182	5842	1	2001												
136142		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Bian, Y.  et al. 2005	15860866				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Journal of clinical oncology. 2005 May;23(13):3074-8	TGFBR1*6A may contribute to hereditary colorectal cancer.		190181	19838	2	2005	 TGFBR16A may be causally responsible for a proportion of HNPCC occurrences.	Cohort 208 index colorectal cancer patients 										
136143		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Kaklamani, V. G.  et al. 2005	15833881				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Cancer research. 2005 Apr;65(8):3454-61	Combined genetic assessment of transforming growth factor-beta signaling pathway variants may predict breast cancer risk.		190181	23637	2	2005	This is the first study assessing the TGF-beta signaling pathway through two common and functionally relevant TGFBR1 and TGFB1 variants. This approach may predict breast cancer risk in a large subset of the population.	Case:660 consecutive patients with breast cancer from the Memorial Sloan-Kettering Cancer Center New York City, NY, US;Control:880 healthy females from the same geographic area										
136144		breast cancer	CANCER	CAN	Breast Neoplasms	9	9q22	TGFBR1	100907232	100956294		Jin, Q.  et al. 2004	15305380				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			International journal of cancer. Journal international du cancer. 2004 Oct;112(1):94-9	Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers.		190181	23638	2	2004	Thus, none of the studied polymorphisms from the TGF-beta1 and its receptor genes was found to influence significantly susceptibility to breast cancer. The possible contribution of 6A/6A homozygosity in the TGF-betaRI gene to breast cancer needs to be confirmed in an independent study.	Control etnically and geographically matched controls;Case Polish familial and Finnish unselected breast cancer cases and familial breast cancer cases from sweden and Germany										
136139	Y	kidney cancer; bladder cancer	CANCER	CAN	Carcinoma, Renal Cell|Carcinoma, Transitional Cell|Kidney Neoplasms|Urinary Bladder Neoplasms	9	9q22	TGFBR1	100907232	100956294		Chen, T.  et al. 2004	15382067			intron	Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			International journal of cancer. Journal international du cancer. 2004 Nov;112(3):420-5	An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder.		190181	19834	2	2004	In conclusion, the Int7G24A variant in the TGFBR1 gene is significantly more frequent in patients with RCC and TCC than normal age-matched controls, suggesting that it may represent a risk factor for the development of kidney and bladder carcinomas.	Control:113 age-matched controls;Case:86/65 patients with renal cell carcinomas (46.5%, n = 86) and bladder and upper urinary tract transitional cell carcinomas (49.2%, n = 65)										
136140	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Kaklamani, V.  et al. 2004	15385056				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			BMC genetics [electronic resource]. 2004 Sep;5:28	No major association between TGFBR1*6A and prostate cancer.		190181	19835	2	2004												
136141	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Suarez, B. K.  et al. 2004	15505640				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Prostate cancer and prostatic diseases. 2005 ;8(1):50-3	TGFBR1(*)6A is not associated with prostate cancer in men of European ancestry		190181	19836	2	2004	There is no compelling evidence for an association of the (*)6A variant with prostate cancer.	Control:488 unrelated controls;Case:537 men with histologically verified prostate cancer										
136136	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Spillman, M. A.  et al. 2005	15863158	polyalanine repeat polymorphism			Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2		North Carolina	CDC GDPinfo	7046	Hs.494622			Gynecologic oncology. 2005 May;97(2):543-9	Transforming growth factor beta receptor I polyalanine repeat polymorphism does not increase ovarian cancer risk.		190181	14229	2	2005	 The 6A allele of the TGFbetaR1 polyalanine polymorphism does not appear to increase ovarian cancer risk. Larger studies would be needed to exclude the possibility that the small fraction of individuals who are 6A homozygotes have an increased risk of ovarian or other cancers.	Case:588 ovarian cancer cases North Carolina;Control:614:controls										
136137		Dupuytren's disease	OTHER	OTH	Dupuytren's Contracture|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Bayat, A.  et al. 2003	12873459				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			British journal of plastic surgery. 2003 Jun;56(4):328-33	Genetic susceptibility to Dupuytren's disease:transforming growth factor beta receptor (TGFbetaR) gene polymorphisms and Dupuytren's disease.		190181	19831	2	2003	However, there were no significant difference in genotype or allele frequency distributions between cases and controls for the TGFbetaRII and TGFbetaRIII SNPs.	Control:181:controls;Case:183 Dupuytren's disease patients										
136138	Y	cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Kaklamani, V. G.  et al. 2003	12947057				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Journal of clinical oncology. 2003 Sep;21(17):3236-43	TGFBR1*6A and cancer risk: a meta-analysis of sevencase-control studies.		190181	19832	2	2003	 TGFBR1*6A is emerging as a highfrequency, low-penetrance tumor susceptibility allele that predisposes to the development of breast, ovarian, and colorectal cancer, as well as hematologic malignancies.	Control:1,846:controls;Case:2,438 cancer cases										
136133	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Samowitz, W. S.  et al. 2001	11746979				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Genes, chromosomes & cancer. 2001 Dec;32(4):381-3	Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer.		190181	14225	2	2001	We conclude that  the 6A TGFBRI allele is not associated with an increased susceptibility to colon cancer at the population level, and that the 6A/6A homozygote is not restricted to individuals with some form of cancer.	Case:252 individuals with colon cancer:Utah, USA;Control:362 age- and gender-matched controls										
136134		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Endometriosis	9	9q22	TGFBR1	100907232	100956294		Baxter, S. W.  et al. 2002	11867510	polyalanine polymorphism and exon 5 mutation			Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			Cancer epidemiology, biomarkers & prevention. 2002 Feb;11(2):211-4	Transforming growth factor beta receptor 1 polyalanine polymorphism and exon 5 mutation analysis in breast and ovarian cancer.		190181	14226	2	2002	Our study provides additional evidence for an association of the TbetaR-I (6A) allele with cancer predisposition, but we find no evidence of a mutational hot-spot in exon 5 of TbetaR-I in either ovarian or breast cancers.	Control:248:controls;Case:304 women with ovarian cancer;Case:355 women with breast cancer occurring under the age of 40 years, bilateral breast cancer, or a family history of breast cancer.;Control:98 women with endometriosis										
136135		prostate cancer; keloid disease	CANCER	CAN		9	9q22	TGFBR1	100907232	100956294		Bayat, A.  et al. 2002	12358857			3' UTR	Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDPinfo	7046	Hs.494622			European journal of immunogenetics. 2002 Oct;29(5):445-6	Novel single nucleotide polymorphisms in the 3'-UTR of the TGFbetaRI and TGFbetaRIII genes.		190181	14227	2	2002	The observed heterozygosities of TGFbetaRI and TGFbetaRIII gene polymorphisms in the control population were 43 and 33%, respectively, suggesting these SNPs could be useful markers in disease association studies.	Cohort 91 controls 										
136130	Y	Lattice corneal dystrophy type 1	OTHER	OTH		5	5q31	TGFBI	135392596	135427406		Gupta SK et al. 1998	9559741				transforming growth factor, beta-induced, 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209598			KGB	7045	Hs.369397			American journal of ophthalmology. 1998 Apr;125(4):547-9	Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene.		601692	5840	1	1998	 Although the possibility that the three families (two previously described Swiss families and this Canadian kindred) are related has not been excluded, it appears that the unique phenotype of lattice corneal dystrophy type 1 is caused by this particular amino acid change.											
136131	Y	BIGH3 gene mutations	OTHER	OTH	Corneal Dystrophies, Hereditary	5	5q31	TGFBI	135392596	135427406		Mashima Y et al. 2000	11024425				transforming growth factor, beta-induced, 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209598		Japan	KGB	7045	Hs.369397			American journal of ophthalmology. 2000 Oct;130(4):516-7	Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.		601692	5841	1	2000	 Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan. This dystrophy, which is diagnosed histopathologically, has also been called granular corneal dystrophy in Japan. The classification of these diseases according to genetic pathogenesis may be more appropriate than is the use of clinical or histological findings.											
136132	N	increased colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBRI	100907232	100956295	n	Samowitz WS et al. 2001	11746979				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612			KGB	7046	Hs.494622			Genes, chromosomes & cancer. 2001 Dec;32(4):381-3	Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer.		190181	8157	1	2001	We conclude that  the 6A TGFBRI allele is not associated with an increased susceptibility to colon cancer at the population level, and that the 6A/6A homozygote is not restricted to individuals with some form of cancer.	Case:252 individuals with colon cancer:Utah, USA;Control:362 age- and gender-matched controls										
136126		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	14	14q24	TGFB3	75494194	75517242		Ichikawa, E.  et al. 2005	16247549				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1	Japanese		CDC GDPinfo	7043	Hs.592317			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		190230	27851	2	2005												
136127		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	14	14q24	TGFB3	75494194	75517242		Murray, J. C.   2002	12030886				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1			CDC GDPinfo	7043	Hs.592317			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		190230	28265	2	2002	Review article											
136128	Y	granular corneal dystrophy	OTHER	OTH	Corneal Dystrophies, Hereditary	5	5q31	TGFBI	135392596	135427406		Dighiero P et al. 2000	10865320				Transforming growth factor, beta-induced, 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000358.1			KGB	7045	Hs.369397			Archives of ophthalmology. 2000 Jun;118(6):814-8	A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.		601692	5838	1	2000	 This French family is affected with a novel variant of granular dystrophy that is caused by a molecular defect in the TGFBI gene, reported here for the first time. CLINICAL RELEVANCE: These 2 mutations cause a novel variant of granular dystrophy that is intermediate in severity between the classical and superficial variant forms. Arch Ophthalmol. 2000;118:814-818											
136123	Y	cleft lip with or without cleft palate; cleft palate, isolated	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	14	14q24	TGFB3	75494194	75517242		Mitchell, L. E.  et al. 2001	11384957				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1	Danish	Denmark	CDC GDPinfo	7043	Hs.592317			American journal of epidemiology. 2001 May;153(10):1007-15	Evaluation of two putative susceptibility loci for oral clefts in the Danish population.		190230	23635	2	2001	Analyses of these data provide evidence of an association between the risk of CP and variation at the TGFB3 locus. However, there is no evidence that the risk of CL+/-P or CP is influenced by gene-environment interactions involving MSX1 or TGFB3 and either first trimester exposure to maternal cigarette smoke or alcohol consumption.	Case patients with CL+/-P or CP 1991 to 1994;Control mothers of the two preceding births in the hospital where the case mother had delivered	alcohol, maternal smoking (tobacco), maternal									
136124		cleft lip with or without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	14	14q24	TGFB3	75494194	75517242		Beaty, T. H.  et al. 2002	11754469				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1		Maryland	CDC GDPinfo	7043	Hs.592317			Genetic epidemiology. 2002 Jan;22(1):11-Jan	Testing candidate genes for non-syndromic oral clefts using a case-parent trio design.		190230	23636	2	2002	There was little evidence of heterogeneity in the role of TGFbeta3 between different types of oral clefts, but MSX1 did yield marginal evidence for such heterogeneity. MSX1 also showed evidence for interaction between infant's genotype and maternal smoking, giving a likelihood ratio test for heterogeneity between smoker and non-smoker mothers of 7.16 (2 df, P = 0.03). Using a conditional logistic model to test for gene-gene interaction showed no evidence of interaction between TGFbeta3 and MSX1, with both seeming to contribute independently to risk of isolated, non-syndromic oral clefts.	Case ascertained through treatment centers in Maryland	smoking (tobacco)									
136125		cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	14	14q24	TGFB3	75494194	75517242		Jugessur, A.  et al. 2003	12652527				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1		Norway	CDC GDPinfo	7043	Hs.592317			Genetic epidemiology. 2003 Apr;24(3):230-9	Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts:a case-parent triad analysis.		190230	25638	2	2003	In conclusion, no strong associations were found between CL+/-P and variants at these three genes. There was a possible recessive effect of the TGFA TaqI variant on the risk of CPO, with a 3-fold risk among children homozygous for the variant. The effect of this TGFA genotype was even stronger among children homozygous for the MSX1-CA A4 allele, raising the possibility of interaction between these two genes. Genet Epidemiol	Cohort 262 case-parent triads from a population-based study of orofacial clefts Norway 										
136120	N	hypertension	CARDIOVASCULAR	CARD		14	14q24	TGFB3	75494194	75517242		Hu, B. C.  et al. 2005	15924806				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1	Chinese		CDC GDPinfo	7043	Hs.592317			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Feb;33(2):127-31	[No association between 3 polymorphisms of transforming growth factor beta3 gene and essential hypertension in Chinese]		190230	14224	2	2005	 Two novel SNPs of TGF-beta3 gene were identified in Chinese. One of them produces a threonine to asparagines substitution in codon 63 (Thr63Asn). But no association was found between TGF-beta3 gene polymorphisms and EH in Chinese.	Control:214 normotensive subjects;Case:396 Chinese patients with hypertension										
136121	Y	cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Anodontia	14	14q24	TGFB3	75494194	75517242		Slayton, R. L.  et al. 2003	12733956				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1			CDC GDPinfo	7043	Hs.592317			The Cleft palate-craniofacial journal. 2003 May;40(3):274-9	Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.		190230	19829	2	2003	 In this sample, there was a significantly greater incidence of hypodontia outside the cleft region in subjects with cleft lip and palate, compared with cleft lip only or cleft palate only. Cleft lip and/or palate with hypodontia outside the cleft region was positively associated with both TGFB3 and MSX1, compared with noncleft controls.	Cohort 120 subjects from the Iowa Craniofacial Anomalies Research Center 										
136122		keloids	OTHER	OTH	Keloid|Genetic Predisposition to Disease	14	14q24	TGFB3	75494194	75517242		Bayat, A.  et al. 2005	16043141				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1			CDC GDPinfo	7043	Hs.592317			British journal of plastic surgery. 2005 Oct;58(7):914-21	Genetic susceptibility to keloid disease: mutationscreening of the TGFbeta3 gene.		190230	19830	2	2005												
136117		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	1	1q41	TGFB2	216586490	216681593		Hattori, H.  et al. 2002	12420205				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1	Japanese		CDC GDPinfo	7042	Hs.133379			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		190220	28005	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
136118		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	1	1q41	TGFB2	216586490	216681593		Murray, J. C.   2002	12030886				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDPinfo	7042	Hs.133379			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		190220	28201	2	2002	Review article											
136119		cleft palate; cleft lip	DEVELOPMENTAL	DEV		14	14q24	TGFB3	75494194	75517242		Kim, M. H.  et al. 2003	14659070				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1	Korean		CDC GDPinfo	7043	Hs.592317			Journal of biochemistry and molecular biology. 2003 Nov;36(6):533-7	Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients.		190230	14223	2	2003	In conclusion, the polymorphism of the SfaN1 site in TGF-beta3 was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.	Case:28 Korean nonsyndromic cleft lip and palate cases;Control:41 healthy controls										
136113	N	Dupuytren's disease	OTHER	OTH	Dupuytren's Contracture|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593	n	Bayat A 2002	11895345	5`- untranslated region (5`-UTR)			Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			KGB	7042	Hs.133379			Journal of hand surgery (Edinburgh, Lothian). 2002 Feb;27(1):47-9	Genetic susceptibility in Dupuytren's disease: lackof association of a novel transforming growth factor beta(2) polymorphism in Dupuytren's disease.		190220	8156	1	2002	There was no statistically significant difference in TGFbeta(2) allele frequency distributions between cases and controls for the TGFbeta(2) polymorphism.	Case:179 Dupuytren's disease:Cohort:187 ethnically matched controls										
136114	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Alansari, A.  et al. 2002	12064833				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1		Turkey|Great Britain|Spain	CDC GDPinfo	7042	Hs.133379			The Journal of rheumatology. 2002 Jun;29(6):1189-91	Transforming growth factor-12 polymorphism and systemic lupus erythematosus.		190220	14222	2	2002	The 4 bp insertion polymorphism within the TGF-beta2 gene does not appear to be associated with SLE. However, this does not rule out the possible involvement of TGF-beta2 in the disease pathogenesis.											
136115	N	Dupuytren's disease	OTHER	OTH	Dupuytren's Contracture|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Bayat, A.  et al. 2002	11895345				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDPinfo	7042	Hs.133379			Journal of hand surgery (Edinburgh, Lothian). 2002 Feb;27(1):47-9	Genetic susceptibility in Dupuytren's disease: lackof association of a novel transforming growth factor beta(2) polymorphism in Dupuytren's disease.		190220	19827	2	2002	There was no statistically significant difference in TGFbeta(2) allele frequency distributions between cases and controls for the TGFbeta(2) polymorphism.	Case:179 Dupuytren's disease:Cohort:187 ethnically matched controls										
136110		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Goode, E. L.  et al. 2002	12036913				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		190180	28474	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
136111		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Saito, T.  et al. 2004	15063762				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Japan	CDC GDPinfo	7040	Hs.155218			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		190180	28622	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
136112	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Alansari A 2002	12064833				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1		Turkey|Great Britain|Spain	Y Wang	7042	Hs.133379			The Journal of rheumatology. 2002 Jun;29(6):1189-91	Transforming growth factor-12 polymorphism and systemic lupus erythematosus.		190220	5837	1	2002	The 4 bp insertion polymorphism within the TGF-beta2 gene does not appear to be associated with SLE. However, this does not rule out the possible involvement of TGF-beta2 in the disease pathogenesis.											
136107		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Cinek, O.  et al. 2004	15170937				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Czech	Czech Republic	CDC GDPinfo	7040	Hs.155218			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		190180	28321	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
136108		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	19	19q13.2	TGFB1	46528490	46551656		McCarthy, J. J.  et al. 2003	14557872				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		190180	28322	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
136109		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	19	19q13.2	TGFB1	46528490	46551656		Helbig, K. J.  et al. 2003	12595908				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		190180	28430	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
136104		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Ogata, T.  et al. 2005	15944607				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		190180	28200	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
136105		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Trajkov, D.  et al. 2005	16100774				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		190180	28263	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
136106		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Martin, A. M.  et al. 2003	14566095				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		190180	28264	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
136101		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		19	19q13.2	TGFB1	46528490	46551656		Trejaut, J. A.  et al. 2004	15361128				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		190180	28197	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
136102		graft versus host disease	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Daly, A. K.  et al. 2002	12083951				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		190180	28198	2	2002	Review article											
136103		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	19	19q13.2	TGFB1	46528490	46551656		Marshall, S. E.  et al. 2001	11233912				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		190180	28199	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
136098		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Sadetzki, S.  et al. 2005	15824172				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Israel	CDC GDPinfo	7040	Hs.155218			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		190180	28003	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
136099		bone density	METABOLIC	MET	Osteoporosis	19	19q13.2	TGFB1	46528490	46551656		Mizuguchi, T.  et al. 2004	14727154				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Japan	CDC GDPinfo	7040	Hs.155218			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		190180	28004	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
136100		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Warle, M. C.  et al. 2002	12089714				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		190180	28114	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
136095		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	19	19q13.2	TGFB1	46528490	46551656		Hoffmann, S.  et al. 2004	15458467				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		190180	27849	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
136096		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	19	19q13.2	TGFB1	46528490	46551656		Hattori, H.  et al. 2002	12420205				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese		CDC GDPinfo	7040	Hs.155218			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		190180	27850	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
136097		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Howell, W. M.  et al. 2003	14675394				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		190180	28002	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
136092		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Chiu, C. J.  et al. 2002	12101112				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Taiwan	CDC GDPinfo	7040	Hs.155218			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		190180	27638	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid									
136093		kidney transplant complications	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656			16378074				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		190180	27639	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
136094		allograft rejection, heart	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Vamvakopoulos, J. E.  et al. 2002	12095061				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		190180	27848	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
136089	N	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Massart, F.  et al. 2004	15698546				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):413-8	Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm.		190180	27246	2	2004	No difference in ELN, ERalpha, PR and TGFbeta1 allele frequencies was observed in AAA patients versus controls (P>0.05). However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2)=5.220; OR=1.82, P<0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility.	Control:225 healthy Caucasian controls (mean age 71.20+/-6.85:years);Case:99 unrelated Caucasian abdominal aortic aneurysm patients (mean age 69.8+/-7.1 years)										
136090		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		19	19q13.2	TGFB1	46528490	46551656		Watanabe, Y.  et al. 2002	12202987				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		190180	27247	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
136091		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Ligeiro, D.  et al. 2004	15194285				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		190180	27637	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
136086		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	19	19q13.2	TGFB1	46528490	46551656		Upperman, J. S.  et al. 2005	15718915				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	African American		CDC GDPinfo	7040	Hs.155218			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		190180	27243	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
136087		kidney transplant complications	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		McDaniel, D. O.  et al. 2003	12727482				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	African American		CDC GDPinfo	7040	Hs.155218			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		190180	27244	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
136088		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Howell, W. M.  et al. 2005	15917409				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		190180	27245	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
136083		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Gaede, K. I.  et al. 2005	15750822				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		United States|Israel|Germany	CDC GDPinfo	7040	Hs.155218			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		190180	27240	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
136084		small for gestational age	UNKNOWN	UNK	Premature Birth	19	19q13.2	TGFB1	46528490	46551656		Engel, S. A.  et al. 2005	15951665				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		North Carolina	CDC GDPinfo	7040	Hs.155218			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):478-86	Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.		190180	27241	2	2005	 Variants related to decreased anti-inflammatory cytokine production may lower risk of SGA. Furthermore, the same mechanism that protects against SGA might increase risk of spontaneous preterm birth.											
136085		kidney transplant	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Lacha, J.  et al. 2005	15848524				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		190180	27242	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
136080		lung transplant complications	OTHER	OTH	Acute Disease	19	19q13.2	TGFB1	46528490	46551656		Zheng, H. X.  et al. 2004	15135368				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The Journal of heart and lung transplantation. 2004 May;23(5):541-6	Interleukin-10 production genotype protects against acute persistent rejection after lung transplantation.		190180	26655	2	2004	 In lung transplant recipients, the increased IL-10 production genotype protects against acute persistent rejection when compared with the intermediate or decreased IL-10 production genotypes. The intermediate IL-10 production genotype in lung transplant recipients can be differentiated into 2 haplotype responses, with the GCC/ACC haplotype associated more with acute persistent rejection. In lung transplant recipients, the immunomodulatory effects of IL-6 are differentiated in the G/C and G/G alleles in conjunction with IL-10 haplotypes, with G/C being associated with more acute persistent rejection in conjunction with the IL-10 GCC/ACC haplotype. Future pharmacogenomic models may incorporate these associations with acute persistent rejection in lung transplant recipients to formulate individualized therapeutic regimens.	Cohort 119 adult lung tranplantation recipients who underwent surveillance transbronchial biopsies during their first year after transplantation 										
136081		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Pain|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Oen, K.  et al. 2005	15901906				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Rheumatology (Oxford, England). 2005 Sep;44(9):1115-21	Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis.		190180	26656	2	2005	 The correlation of IL-6 genotype with pain and the possible association of the TGF-beta1 codon 25 genotype with short-term radiographic damage (G/C with greater risk and G/G with decreased risk) suggests that both these polymorphisms may be useful early prognostic indicators. Further studies of the relation between cytokine genotypes and outcomes in patients with all forms of juvenile idiopathic arthritis (JIA) are warranted.	Cohort patients with juvenile rheumatoid arthritis who previously participated in a long-term outcome study 										
136082	Y	radiotherapy	UNKNOWN	UNK	Breast Neoplasms|Radiation Injuries	19	19q13.2	TGFB1	46528490	46551656		Andreassen, C. N.  et al. 2005	15878096				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		190180	26657	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
136077		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Mihailova, S.  et al. 2005	16183136				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Bulgaria	CDC GDPinfo	7040	Hs.155218			Journal of neuroimmunology. 2005 Nov;168(2-Jan):138-43	Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients.		190180	26652	2	2005												
136078		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Embryo Loss	19	19q13.2	TGFB1	46528490	46551656		Costeas, P. A.  et al. 2004	14969768				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human immunology. 2004 Feb;65(2):135-41	Th2/Th3 cytokine genotypes are associated with pregnancy loss		190180	26653	2	2004	Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.	Case abortion-prone female patients;Control women with successful pregnancies										
136079	Y	allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Gentile, D. A.  et al. 2004	15120189				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human immunology. 2004 Apr;65(4):347-51	Association between TNF-alpha and TGF-beta genotypes in infants and parental history of allergic rhinitis and asthma.		190180	26654	2	2004	These results suggest a role for TNF-alpha and TGF-beta1 genotypes in the pathogenesis of allergic rhinitis and asthma, respectively. If confirmed by future studies, cytokine genotyping may be a useful tool for identifying at-risk infants who may benefit from the selective use of preventative and/or early intervention treatments for these disorders.	Cohort 124 infants 										
136074		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Basturk, B.  et al. 2005	15784411				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cytokine. 2005 Apr;30(1):41-5	Cytokine gene polymorphisms as potential risk and protective factors in renal cell carcinoma.		190180	26649	2	2005	Nevertheless, these findings suggest that the TNF-alpha -308 G/G and TGF-beta codon 10-25 T/T-G/C genotypes may be potential risk factors for RCC, whereas TNF-alpha -308 G/A, IL-6 C/C and TGF-beta1 codon 10-25 C/C-G/G genotypes may be possible protective factors. The number of the cases has to be increased to investigate the independency of these polymorphisms involved in the oncogenesis of RCC.	Case:29 patient with renal cell carcinoma;Control:50 healthy controls										
136075		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Bendicho, M. T.  et al. 2005	15841043				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Pancreas. 2005 May;30(4):333-6	Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis.		190180	26650	2	2005	 The genotypes corresponding to the high TGF-beta1 producer phenotypes can be associated with the fibrogenesis shown with CP.	Case:28 chronic pancreatitis patients evaluated at a university gastroenterology outpatient service;Control:94 blood donors										
136076		tuberculosis	INFECTION	INF	Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	19	19q13.2	TGFB1	46528490	46551656		Henao, M. I.  et al. 2005	15925543				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Colombian		CDC GDPinfo	7040	Hs.155218			Tuberculosis (Edinburgh, Scotland). 2006 Jan;86(1):9-Nov	Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis.		190180	26651	2	2005	Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.	Case:140/30/20 patients with pulmonary TB (n=140), with pleural TB (n=30) and with miliary TB (n=20);Control:54/81 tuberculin-negative healthy controls (n=54) and tuberculin-positive heatlhy controls (n=81)										
136071		renal allograft outcome	UNKNOWN	UNK		19	19q13.2	TGFB1	46528490	46551656		Delaney, N. L.  et al. 2004	15603866				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	African American		CDC GDPinfo	7040	Hs.155218			Human immunology. 2004 Dec;65(12):1413-9	TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops:Part IV.		190180	26646	2	2004	Because levels of expression can affect inflammation and immune regulation, differences in cytokine allele frequencies between racial or ethnic groups may contribute to different incidences of autoimmunity and allograft rejection.	Cohort 691/296 unrelated adult African Americans (n=691) and Cuban Americans (n=296) 										
136072	N	liver transplant	OTHER	OTH		19	19q13.2	TGFB1	46528490	46551656		Karasu, Z.  et al. 2004	15621151				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation proceedings. 2004 Nov;36(9):2791-5	Cytokine gene polymorphism and early graft rejection in liver transplant recipients.		190180	26647	2	2004	In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.	Cohort 43 Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group. 										
136073	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Migita, K.  et al. 2005	15763337				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	CDC GDPinfo	7040	Hs.155218			Journal of hepatology. 2005 Apr;42(4):505-10	Cytokine gene polymorphisms in Japanese patients with hepatitis B virus infection--association between TGF-beta1 polymorphisms and hepatocellular carcinoma.		190180	26648	2	2005	 Our findings suggest that the genetic polymorphism in codon 10 of the TGF-beta1 gene may play a role in HCC development in patients with chronic HBV infection.	Cohort 236 Japanese patients with hepatitis B virus 	hepatitis B									
136068		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Recurrence	19	19q13.2	TGFB1	46528490	46551656		Ben-Ari, Z.  et al. 2004	15207246				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cytokine. 2004 Jul;27(1):14-Jul	Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation		190180	26643	2	2004	These findings might help to design preemptive prevention therapy in selected patients at risk.	Cohort 36 chronic hepatitis C patients 										
136069		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	19	19q13.2	TGFB1	46528490	46551656		Prigoshin, N.  et al. 2004	15214940				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Caucasian		CDC GDPinfo	7040	Hs.155218			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):36-41	Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause.		190180	26644	2	2004	 This finding would support the concept of involvement of IFN-gamma +874 A --> T in the pathogenesis of RPL of unknown cause in the Caucasian Argentine population.	Case:41 women with reccurent pregnancy loss;Control:54 control women who had at least two children and without known pregnancy losses										
136070		kidney transplant	IMMUNE	IMM	Acute Disease	19	19q13.2	TGFB1	46528490	46551656		Alakulppi, N. S.  et al. 2004	15599305				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2004 Nov;78(10):1422-8	Cytokine gene polymorphisms and risks of acute rejection and delayed graft function after kidney transplantation.		190180	26645	2	2004	 Our results confirm that cytokine gene polymorphisms influence the outcome of kidney transplantation. Our data especially identify the TNF-alpha -308AA-genotype as a factor predisposing for AR episodes.	Cohort 291 conors and adult cadaver kidney recipients transplanted at a single transplantation center 1999 - 2002 										
136065		kidney transplant complications	IMMUNE	IMM	Acute Disease	19	19q13.2	TGFB1	46528490	46551656		Gu, X. W.  et al. 2003	14625191				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1211-3	Cytokine gene polymorphism in sensitized kidney transplant recipients and its association with acute rejection episodes		190180	26640	2	2003	 TNF-alpha and IL-10 gene polymorphism may significantly influence the incidence of acute rejection episodes in sensitized kidney transplants, for whom determination of TNF-alpha and IL-10 genotype might help design feasible immunosuppressive protocols.	Cohort 97 sensitized kidney transplant recipients 										
136066		heart failure	CARDIOVASCULAR	CARD	Shock, Cardiogenic|Critical Illness	19	19q13.2	TGFB1	46528490	46551656		Appoloni, O.  et al. 2004	15189946				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Chest. 2004 Jun;125(6):2232-7	Association between the TNF-2 allele and a better survival in cardiogenic shock.		190180	26641	2	2004	 Patients with the TNF-2 allele have no greater risk of cardiogenic shock but a better survival rate when it develops. Different genetic factors appear to influence the risk of development of, and outcome from, cardiogenic shock.	Case:33 adult patients with cardiogenic shock of recent (< 4 h) onset;Control:48 healthy control subjects										
136067		kidney transplant	IMMUNE	IMM	Hypertension|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease|Hyperuricemia	19	19q13.2	TGFB1	46528490	46551656		Babel, N.  et al. 2004	15200452				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Kidney international. 2004 Jul;66(1):428-32	Nonimmunologic complications and gene polymorphisms of immunoregulatory cytokines in long-term renal transplants		190180	26642	2	2004	 We established an association of particular cytokine genotypes with nonimmunologic post-transplant complications. This supports an idea that assessment of cytokine SNPs may allow more accurate prediction of nonimmunologic complications and appropriate adjustment of pre-emptive treatments in long-term transplant patients.	Cohort 278 long-term renal transplant subjects 										
136062		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Otitis Media	19	19q13.2	TGFB1	46528490	46551656		Gentile, D. A.  et al. 2003	12590978				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human immunology. 2003 Mar;64(3):338-44	Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.		190180	26637	2	2003	These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.	Cohort 77 infants hospitalized with confirmed RSV infection 										
136063		hepatitis C	INFECTION	INF	Hepatitis C	19	19q13.2	TGFB1	46528490	46551656		Barrett, S.  et al. 2003	12938195				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection		190180	26638	2	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive)) 										
136064		parvovirus	INFECTION	INF	Parvoviridae Infections	19	19q13.2	TGFB1	46528490	46551656		Kerr, J. R.  et al. 2003	14514772				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		190180	26639	2	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
136059		multiple sclerosis	IMMUNE	IMM	Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Gourley, I. S.  et al. 2002	12232842				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Kenya	CDC GDPinfo	7040	Hs.155218			The Journal of infectious diseases. 2002 Oct;186(7):1007-12	Profound bias in interferon-gamma and interleukin-6 allele frequencies in western Kenya, where severe malarial anemia is common in children.		190180	26634	2	2002	The cohort displayed a marked bias toward genotypes associated with low expression of IFN-gamma and IL-6, cytokines that, at high levels, have been implicated in malarial anemia and poor malaria outcomes. By contrast, the frequency of the TNF-alpha -238A allele, which has been associated with severe malarial anemia, was found to be similar to the frequency previously reported in comparison populations in Africa and elsewhere. IFN-gamma and IL-6 genotypes may play roles in the development of severe malaria and could contribute to the relative frequency of severe malarial anemia or cerebral malaria in exposed populations.	Cohort young men Western Kenya 										
136060		bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans	19	19q13.2	TGFB1	46528490	46551656		Lu, K. C.  et al. 2002	12451269				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2002 Nov;74(9):1297-302	Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation.		190180	26635	2	2002	 The presence of high-expression polymorphisms at position -174 of the IL-6 gene and position +874 of the IFN-gamma gene significantly increases the risk for BOS development after lung transplantation.	Cohort 93 lung allograft recipients 										
136061		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	19	19q13.2	TGFB1	46528490	46551656		Gentile, D. A.  et al. 2003	12507818				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human immunology. 2003 Jan;64(1):93-8	Cytokine gene polymorphisms moderate responses to respiratory syncytial virus in adults.		190180	26636	2	2003	These results suggest that certain cytokine gene polymorphisms moderate immune responses and illness severity in adults experimentally exposed to RSV.	Cohort 29 adults experimentally inoculated with respiratory syncytial virus 										
136056	Y	allograft outcome	IMMUNE	IMM	Hepatitis C|Genetic Predisposition to Disease|Recurrence	19	19q13.2	TGFB1	46528490	46551656		Tambur, A. R.  et al. 2001	11391238				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2001 May;71(10):1475-80	Role of cytokine gene polymorphism in hepatitis C recurrence and allograft rejection among liver transplant recipients.		190180	26631	2	2001	 While no significant correlation was detected between particular cytokine profile and early rejection episodes, our data strongly suggest an association between cytokine gene polymorphism of TGF-beta, IL-10, and INF-gamma and recurrence of hepatitis C in LTx recipients.	Control:49 healthy Caucasian individuals;Case:68 liver transplant recipients										
136057		allograft outcome	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Awad, M. R.  et al. 2001	11404167				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The Journal of heart and lung transplantation. 2001 Jun;20(6):625-30	The effect of cytokine gene polymorphisms on pediatric heart allograft outcome.		190180	26632	2	2001	 Genetic polymorphisms that have been associated with low TNF-alpha and high IL-10 production are associated with a lower number of acute rejection episodes after pediatric heart transplantation.	Control:29 heart donors;Case:93 pediatric heart transplant recipients										
136058		cell-surface B7 expression; cytokine production	UNKNOWN	UNK		19	19q13.2	TGFB1	46528490	46551656		Hutchings, A.  et al. 2002	11906646				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	African American		CDC GDPinfo	7040	Hs.155218			Pediatric transplantation. 2002 Feb;6(1):69-77	Association of cytokine single nucleotide polymorphisms with B7 costimulatory molecules in kidney allograft recipients.		190180	26633	2	2002	These data raise the possibility that specific genotypes are associated with local cytokine regulation of cell-surface costimulatory molecule expression. African-American patients may have a genetically determined, quantitatively different immune response than Caucasian patients, contributing to adverse transplant outcomes.	Cohort African-American and Caucasian renal transplant recipients 										
136053	N	graft versus host disease	IMMUNE	IMM	Graft vs Host Disease	19	19q13.2	TGFB1	46528490	46551656		Laguila Visentainer, J. E.  et al. 2005	16243534			coding sequence	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Mixed Brazilian population	Brazil	CDC GDPinfo	7040	Hs.155218			Cytokine. 2005 Nov;32(4-Mar):171-7	Relationship between cytokine gene polymorphisms and graft-versus-host disease after allogeneic stem cell transplantation in a Brazilian population.		190180	26628	2	2005	There are not association between TGFB1 and GVHD.											
136054		kidney graft survival	RENAL	REN		19	19q13.2	TGFB1	46528490	46551656		Neumann, J.  et al. 2001	11266927				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):501	Cytokine polymorphism and kidney graft survival at a single center.		190180	26629	2	2001	Our findings suggest that more patients should be studied and, if our results are confirmed, we should be able to tailor immunosuppression according to each patient's risk.	Cohort 35 kidney graft receptors 1992-1999 										
136055		graft-vs-host disease	IMMUNE	IMM	Graft vs Host Disease	19	19q13.2	TGFB1	46528490	46551656		Tambur, A. R.  et al. 2001	11266928				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):502-3	Cytokine gene polymorphism in patients with graft-versus-host disease.		190180	26630	2	2001	In view of these data, and other recent reports in the literature, the role of TGF-beta in manipulating immune response should be reassessed.	Case:24 bone marrow transplant recipients:1996-1999;Control:43 healthy controls										
136050		infertility, male	REPRODUCTION	REP	Osteoporosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Lei, S. F.  et al. 2003	12491092				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Chinese	China	CDC GDPinfo	7040	Hs.155218			Journal of bone and mineral metabolism. 2003 ;21(1):34-42	Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity.		190180	26625	2	2003	Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.	Cohort 124 random individuals 										
136051		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Gottenberg, J. E.  et al. 2004	14872501				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Arthritis and rheumatism. 2004 Feb;50(2):570-80	Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome		190180	26626	2	2004	 TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGFbeta1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.	Case:129 French Sjogren's syndrome patients;Control:96 unrelated healthy subjects										
136052	Y	heart transplant complications	OTHER	OTH	Infection	19	19q13.2	TGFB1	46528490	46551656		Gourley, I. S.  et al. 2004	15041164				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Human immunology. 2004 Mar;65(3):248-54	The effect of recipient cytokine gene polymorphism on cardiac transplantation outcome		190180	26627	2	2004	Patients with the TGF-beta genotype 10 T/T 25 G/G or 10 T/C 25 G/G had a longer time to first rejection (median time to first rejection episode 321 days) than those with the TGF-beta genotype 10C/C 25 G/C or 10 C/C 25 C/C (median time to first rejection 88 days). There was a trend toward a higher frequency of the tumor necrosis factor-alpha genotype -308 G/A or A/A in patients without infection (19/59, 32%) as compared with patients with infection (5/31, 16%). In both cases, these differences failed to reach significance when adjusted for multiple comparisons. No other significant association was found with clinical outcomes and polymorphisms in the five cytokine genes studied in this population.	Cohort 95 heart transplant paitnets 										
136047		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	19	19q13.2	TGFB1	46528490	46551656		Amirzargar, A. A.  et al. 2005	15932621				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Iranian		CDC GDPinfo	7040	Hs.155218			International journal of immunogenetics. 2005 Jun;32(3):167-71	Cytokine gene polymorphism in Iranian patients with chronic myelogenous leukaemia.		190180	26622	2	2005	The results suggest that production of TGF-beta in CML patients is higher and production of IL-4 and IL-10 is lower than in normal subjects.	Case:30 Iranian patients with chronic myelogenous leukemia;Control:40 healthy subjects										
136048		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Cantor, M. J.  et al. 2005	15842590				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The American journal of gastroenterology. 2005 May;100(5):1134-42	The role of cytokine gene polymorphisms in determining disease susceptibility and phenotype in inflammatory bowel disease.		190180	26623	2	2005	 The cytokine gene polymorphisms studied here do not appear to influence IBD susceptibility. There does, however, appear to be an influence on disease phenotype, particularly on CD site.	Case:193 IBD patients (Crohn's disease (n=138) and ulcerative colitis (n=55));Control:92:controls										
136049		osteoporosis, postmenopausal; estradiol	METABOLIC	MET	Osteoporosis	19	19q13.2	TGFB1	46528490	46551656		Brodowska, A.   2003	15552843				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Annales Academiae Medicae Stetinensis. 2003 ;49:111-30	[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes]		190180	26624	2	2003	The following conclusions were drawn: 1. There is no connection between VDR and ER gene polymorphism and degree of osteoporosis before treatment. 2. XX, PP and Bb markers or X, P, B alleles are associated with a significant decrease in therapeutic efficacy. Nevertheless, satisfactory results were achieved in each woman with primary osteoporosis. 3. Estradiol concentration in serum before and during HRT does not depend on the polymorphism of VDR and ER genes.	Cohort 44 postmenopausal women aged 44-75 years with primary osteoporosis on cyclic HRT (hormonal replacement therapy) 	calcium hormone replacement therapy physical activity Vitamin D									
136044	Y	radiotherapy response	UNKNOWN	UNK	Breast Neoplasms|Fibrosis	19	19q13.2	TGFB1	46528490	46551656		Andreassen, C. N.  et al. 2003	14643949				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Radiotherapy and oncology. 2003 Nov;69(2):127-35	Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes.		190180	25637	2	2003	 The present study established significant correlations between five SNPs and risk of radiation-induced normal tissue reactions. These findings support the assumption that clinical normal tissue radiosensitivity should be regarded as a phenomenon dependent on the combined effect of variation in several genes and indicate that models based on multiple genetic markers may have the potential to predict normal tissue responses after radiotherapy.	Cohort 41 patients who received post-mastectomy radiotherapy in 1978-1982 										
136045		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Spriewald, B. M.  et al. 2005	15708894				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Annals of the rheumatic diseases. 2005 Mar;64(3):457-61	Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis.		190180	26620	2	2005	 Disease susceptibility and clinical course in WG may be associated with distinct polymorphisms of cytokine and CTLA4 genes.	Case:32 patients with generalized Wegener's granulomatosis;Control:91 healthy controls										
136046		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.2	TGFB1	46528490	46551656		Frossard, P. M.  et al. 2002	12009575				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		United Arab Emirates	CDC GDPinfo	7040	Hs.155218			Molecular immunology. 2002 May;38(13-Dec):969-76	A study of five human cytokine genes in human essential hypertension		190180	26621	2	2002	However, although they do not reach statistical significance (which may be due to the relatively restricted number of subjects included in this study), the distribution differences (in normotensives and hypertensives) observed in the cases of EGF and TNF-alpha reflect trends that could be expected from a mechanistic explanation of the pathways that underlie the patho-physiology of hypertension.	Case:81:hypertensives Abu Dhabi Emirate;Control:93:normotensives										
136041		cardiomyopathy; heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Diseases|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Webber, S. A.  et al. 2002	15773449				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cardiology in the young. 2002 Oct;12(5):461-4	Polymorphisms in cytokine genes do not predict progression to end-stage heart failure in children.		190180	25634	2	2002	 No evidence is found to support the hypothesis that these polymorphisms for cytokine genes influence progression to end-stage heart failure in children undergoing transplantation because of cardiomyopathy or congenital heart disease.	Cohort 94 heart transplanted children 										
136042		liver transplantation, immunosuppression after	IMMUNE	IMM	Substance Withdrawal Syndrome	19	19q13.2	TGFB1	46528490	46551656		Mazariegos, G. V.  et al. 2002	11981433				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Transplantation. 2002 Apr;73(8):1342-5	Cytokine gene polymorphisms in children successfully withdrawn from immunosuppression after liver transplantation.		190180	25635	2	2002	 Children successfully maintained off immunosuppression are more likely to have a genetic predisposition toward low TNF-alpha and high/intermediate IL-10 production. Children maintained on minimal immunosuppression exhibit a similar cytokine profile to those successfully weaned.	Case:12/7 Pediatric liver transplant recipients who were successfully withdrawn from immunosuppression (n=12) or who are on minimal immunosuppression:(n=7);Control:37 liver recipients who required maintenance:immunosuppression										
136043		allograft dysfunction, renal	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Tian, Y.  et al. 2002	12133353				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2002 Apr;40(4):256-8	[Influence of cytokine gene polymorphism on renal transplantation]		190180	25636	2	2002	 This study demonstrated that TNF-alpha and IL-10 gene polymorphism has significant influence on the incidence of acute rejection in renal transplantation.	Case:115 consecutive renal transplant recipients;Control:24 normal people										
136038		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Fibrosis|Inflammation	19	19q13.2	TGFB1	46528490	46551656		Schneider, A.  et al. 2004	15316224				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Pancreatology. 2004 ;4(6):490-4	Transforming growth factor-beta1, interleukin-10 and interferon-gamma cytokine polymorphisms in patients with hereditary, familial and sporadic chronic pancreatitis.		190180	25631	2	2004	 These genetic variants do not play a dominant role in hereditary, familial or sporadic chronic pancreatitis.	Control:73:controls;Case:78/62 patients with hereditary and familial pancreatitis (n=78) and patients with sporadic pancreatitis (n=62) that were tested negative for cationic trypsinogen gene mutations										
136039		heart transplant complications	OTHER	OTH		19	19q13.2	TGFB1	46528490	46551656		Plaza, D. M.  et al. 2003	12909463				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The Journal of heart and lung transplantation. 2003 Aug;22(8):851-6	Cytokine gene polymorphisms in heart transplantation: association of low IL-10production genotype with Quilty effect		190180	25632	2	2003	 These results suggest that genetically controlled decreased IL-10 production predisposes to the development of Quilty lesions. The decreased negative regulatory effect of IL-10 on T cells and macrophages may result in enhanced graft infiltration.	Cohort 71 heart transplant recipients Dec 1985 - Dec, 2000 										
136040		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Alcoholism	19	19q13.2	TGFB1	46528490	46551656		Schneider, A.  et al. 2004	15066699				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Alcohol (Fayetteville, NY). 2004 Jan;32(1):19-24	Analysis of tumor necrosis factor-alpha, transforming growth factor-beta 1, interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis.		190180	25633	2	2004	We did not find an association between the different genotypes and the clinical course of the disease. Therefore, we assume that these genetic variants do not play a dominant role in alcoholic chronic pancreatitis.	Case:42 patients with alcoholic chronic pancreatitis;Control:94/73 control subjects for the TNF polymorphism (n=94) and for the other polymorphisms (n=73)										
136036		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	19	19q13.2	TGFB1	46528490	46551656		Linsingen, R.  et al. 2005	15790343				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Brazil	CDC GDPinfo	7040	Hs.155218			American journal of reproductive immunology (New York, NY :  1989). 2005 Feb;53(2):94-9	A case-control study in IL6 and TGFB1 gene polymorphisms and recurrent spontaneous abortion in southern Brazilian patients.		190180	23632	2	2005	 This result strengthened the importance of IL6 genotypes in the pathogenesis of RSA of unknown cause in the south Brazilian population.	Case:57 south Brazilian women, with unexplained recurrent spontaneous abortion south Brazil;Control:74 carefully matched controls										
136037	Y	vesicoureteral reflux	UNKNOWN	UNK	Kidney Failure, Chronic|Vesico-Ureteral Reflux|Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Lee-Chen, G. J.  et al. 2004	15086490				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Taiwanese		CDC GDPinfo	7040	Hs.155218			Kidney international. 2004 Apr;65(4):1467-72	Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux.		190180	23633	2	2004	 The K allele of KLK1 promoter and TT genotype of TGF-beta1 may be a genetic KLK1 -130 GN and -128 G-C, and the susceptibility factor contributing to progressive renal deterioration in Taiwanese primary VUR children.	Cohort 74 primary vesicoureteral reflux children Taiwan 										
136032		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Kaklamani, V. G.  et al. 2005	15833881				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cancer research. 2005 Apr;65(8):3454-61	Combined genetic assessment of transforming growth factor-beta signaling pathway variants may predict breast cancer risk.		190180	19837	2	2005	This is the first study assessing the TGF-beta signaling pathway through two common and functionally relevant TGFBR1 and TGFB1 variants. This approach may predict breast cancer risk in a large subset of the population.	Case:660 consecutive patients with breast cancer from the Memorial Sloan-Kettering Cancer Center New York City, NY, US;Control:880 healthy females from the same geographic area										
136033	N	chronic lung disease	UNKNOWN	UNK	Lung Diseases|Chronic Disease	19	19q13.2	TGFB1	46528490	46551656		Adcock, K.  et al. 2003	12944979				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Genes and immunity. 2003 Sep;4(6):420-6	The TNF-alpha -308, MCP-1 -2518 and TGF-beta1 +915 polymorphisms are not associated with the development of chronic lung disease in very low birth weight infants.		190180	23629	2	2003	These data suggest that these polymorphisms do not play a significant role in determining risk for CLD in preterm infants, but may play a role in other complications in the neonatal period.	Cohort 178 mechanically ventilated very low birth weight (VLBW) infants 										
136034		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Murakozy, G.  et al. 2001	11436536				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Sarcoidosis, vasculitis, and diffuse lung diseases. 2001 Jun;18(2):165-9	Analysis of gene polymorphisms in interleukin-10 and transforming growth factor-beta 1 in sarcoidosis.		190180	23630	2	2001	Statistical comparisons of the allele and genotype frequencies between the clinical defined sarcoidosis groups and the healthy blood donors revealed no significant differences.	Case:51 sarcoidosis patients;Control:72 healthy blood donors										
136029		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Jin, Q.  et al. 2004	15305380				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			International journal of cancer. Journal international du cancer. 2004 Oct;112(1):94-9	Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers.		190180	14228	2	2004	Thus, none of the studied polymorphisms from the TGF-beta1 and its receptor genes was found to influence significantly susceptibility to breast cancer. The possible contribution of 6A/6A homozygosity in the TGF-betaRI gene to breast cancer needs to be confirmed in an independent study.	Control etnically and geographically matched controls;Case Polish familial and Finnish unselected breast cancer cases and familial breast cancer cases from sweden and Germany										
136030		retinopathy of prematurity	UNKNOWN	UNK	Retinopathy of Prematurity	19	19q13.2	TGFB1	46528490	46551656		Cooke, R. W.  et al. 2004	15161830				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Investigative ophthalmology & visual science. 2004 Jun;45(6):1712-5	Genetic polymorphisms and retinopathy of prematurity		190180	14351	2	2004	 The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF.	Case:91 infants who had received treatment for threshold retinopathy of prematurity;Control:97 comparison infants										
136031		keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Bayat, A.  et al. 2004	15009106				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease:transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		190180	19833	2	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
136026	Y	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Carturan, S.  et al. 2004	15593052				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of nephrology. 2004 Nov-Dec;17(6):786-93	Association between transforming growth factor beta1 gene polymorphisms and IgA nephropathy.		190180	14219	2	2004	 Our study suggests that the haplotype reconstruction of TGF-beta1 gene polymorphisms could be more informative than the investigation of single nucleotide polymorphisms for defining the associated risk of developing IgAN. Further research is needed on larger cohorts to confirm TGF-beta1 involvement and test other TGF-beta1 variants with possible additive or synergistic effects.	Case:101 patients with biopsy proven IgA mesangial:nephropathy;Control:118 healthy controls										
136027		cirrhosis	OTHER	OTH	Hepatitis B, Chronic|Liver Cirrhosis|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Yang, Z. X.  et al. 2005	16029542				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Zhonghua yi xue za zhi. 2005 Apr;85(15):1021-6	[Effect of polymorphism of transforming growth factor beta1 gene on HBV-induced liver cirrhosis]		190180	14220	2	2005	 No relationship is found between -509C > T polymorphism of TGFbeta1 and liver cirrhosis in Chinese populations, but the presence of C allele at position -509 may play an important role in the progression of liver cirrhosis and may influence plasma concentration of TGFbeta1 in liver cirrhosis patients. Codon10T > C polymorphism may play a significant role in development of liver cirrhosis, but has no correlation with plasma concentration of TGFbeta1 and progression of liver cirrhosis. The -509C > T and codon10T > C polymorphisms are in tight linkage disequilibrium, and the major haplotypes are C-T and T-C. The haplotype C-T influences plasma concentration of TGFbeta1 and is closely related to liver cirrhosis.											
136028		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656			16387590				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Chinese		CDC GDPinfo	7040	Hs.155218			The Journal of allergy and clinical immunology. 2006 Jan;117(1):92-6	Analysis of TGF-beta(1) gene polymorphisms in Hong Kong Chinese patients with asthma		190180	14221	2	2006	 Our results indicate that the polymorphisms at C-509T and T869C of the TGF-beta(1) gene are associated with asthma susceptibility in atopic subjects of the Hong Kong Chinese population, and the C-509T polymorphism may play a role in the pathogenesis of airflow obstruction.											
136023	Y	rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Heart Valve Diseases|Mitral Valve Insufficiency|Mitral Valve Stenosis	19	19q13.2	TGFB1	46528490	46551656		Chou, H. T.  et al. 2004	15215809	C-509T and T869C			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Chinese	China|Taiwan	CDC GDPinfo	7040	Hs.155218			American heart journal. 2004 Jul;148(1):181-6	Association between transforming growth factor-beta1 gene C-509T and T869C polymorphisms and rheumatic heart disease.		190180	14216	2	2004	 Patients with RHD have a lower frequency of TGF-beta1 C-509T CC genotype and a higher frequency of T869C T allele, which supports a role for the TGF-beta1 gene C-509T and T869C polymorphisms in determining the risk/protection of RHD in Taiwan Chinese patients.	Control:100 age- and sex-matched healthy control patients;Case:115 rheumatic heart disease patients:Taiwan										
136024		dental implants	INFECTION	INF		19	19q13.2	TGFB1	46528490	46551656		Dos Santos, M. C.  et al. 2004	15359164			promoter	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Implant dentistry. 2004 Sep;13(3):262-9	Analysis of the Transforming Growth Factor- beta1 Gene Promoter Polymorphisms in Early Osseointegrated Implant Failure		190180	14217	2	2004	These results indicate that C-509T and G-800A polymorphisms in the transforming growth factor-beta1 gene are not associated separately or in haplotype combinations with early implant failure, suggesting that the presence of those single nucleotide polymorphisms alone do not constitute a genetic risk factor for early implant failure in the Brazilian population.	Case:28 patients with one or more early failed implants;Control:40 individuals with one or more healthy implants										
136025	N	hypodontia	DEVELOPMENTAL	DEV	Anodontia	19	19q13.2	TGFB1	46528490	46551656		Peres, R. C.  et al. 2004	15529502			promoter	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			The Angle orthodontist. 2004 Oct;74(5):665-71	Absence of association between transforming growth factor-beta1 promoter polymorphisms and hypodontia.		190180	14218	2	2004	Our data suggest that these TGF-beta1 promoter polymorphisms are not associated with hypodontia.	Control:48 control individuals;Case:51 Caucasian subjects with hypodontia										
136020		cirrhosis; liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis	19	19q13.2	TGFB1	46528490	46551656		Kwon, O. S.  et al. 2003	14532743	codons 10 and 25			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Korean	Korea	CDC GDPinfo	7040	Hs.155218			The Korean journal of gastroenterology. 2003 Sep;42(3):212-9	[Polymorphism in codons 10 and 25 of the transforming growth factor-beta1 gene in Korean population and in patients with liver cirrhosis and hepatocellular carcinoma]		190180	14212	2	2003	 The genetic polymorphism of TGF-beta1 at codon 10 might be associated with LC and morphology of HCC. The potential usefulness of TGF-beta1 genotyping needs further studies in large scale.	Control:35 control subjects;Case:64/49 patients with liver cirrhosis (n=64), and hepatocellular carcinoma (n=49)										
136021		liver disease; hepatitis C, chronic	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis	19	19q13.2	TGFB1	46528490	46551656		Tag, C. G.  et al. 2003	14596813	codon 25			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cytokine. 2003 Dec;24(5):173-81	Analysis of the transforming growth factor-beta1 (TGF-beta1) codon 25 gene polymorphism by LightCycler-analysis in patients with chronic hepatitis C infection.		190180	14213	2	2003	This suggests that the stage of hepatic fibrosis, rather than the grade (inflammation), is influenced by the presence of proline at codon 25 in patients with chronic hepatitis C.	Cohort patients with hepatic fibrosis induced by chronic hepatitis C virus infection 										
136022	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Ewart-Toland, A.  et al. 2004	15159307				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):759-64	A Gain of Function TGFB1 Polymorphism May Be Associated With Late Stage Prostate Cancer		190180	14215	2	2004	Our data suggest that the TGFB1 C-509T variant that affects expression of TGFbeta1 may play a role in advanced stage prostate cancer.	Control:492 age-matched controls;Case:492 men diagnosed with prostate cancer from the Physicians Health Study										
136017		systemic sclerosis	UNKNOWN	UNK	Scleroderma, Systemic	19	19q13.2	TGFB1	46528490	46551656		Crilly, A.  et al. 2002	12117671				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Annals of the rheumatic diseases. 2002 Aug;61(8):678-81	Analysis of transforming growth factor beta1 gene polymorphisms in patients with systemic sclerosis.		190180	14209	2	2002	 These results suggest that patients with SSc are genetically predisposed to high TGFbeta1 production. These polymorphisms do not, however, explain the difference in the clinical phenotypes of limited and diffuse SSc.	Control:147:controls;Case:89/63 patients with limited systemic sclerosis (n=89) and diffuse systemic sclerosis (n=63)										
136018	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	19	19q13.2	TGFB1	46528490	46551656		De Souza, A.  et al. 2003	12795790	(C-509T)		promoter	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of clinical periodontology. 2003 Jun;30(6):519-23	Analysis of the TGF-beta1 promoter polymorphism (C-509T) in patients with chronic periodontitis.		190180	14210	2	2003	 These results demonstrate that the polymorphism at bp -509 in the TGF-beta1 promoter may have a small effect on the modulation of the inflammatory process during periodontitis.	Case moderate and severe periodonitis patients;Control healthy subjects										
136019	Y	bone density	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Kawaguchi, Y.  et al. 2003	12838101				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Japan	CDC GDPinfo	7040	Hs.155218			Spine. 2003 Jul;28(13):1424-6	Association between polymorphism of the transforming growth factor-beta1 gene with the radiologic characteristic and ossification of the posterior longitudinal ligament.		190180	14211	2	2003	 Transforming growth factor-beta1 polymorphism is not a factor associated with the occurrence of OPLL, but rather a factor related to the area of the ossified lesion. The C allele might be a risk factor for patients with OPLL in other areas in addition to the cervical lesion.	Control:258 control subjects;Case:369 patients with ossification of the posterior longitudinal ligament										
136014	Y	ossification of the posterior longitudinal ligament	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Kamiya, M.  et al. 2001	11389394				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	CDC GDPinfo	7040	Hs.155218			Spine. 2001 Jun;26(11):1264-6; discussion 1266-7	Association between a polymorphism of the transforming growth factor-beta1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients.		190180	14206	2	2001	 The T869-->C polymorphism of the TGF-beta1 gene is a genetic determinant of a predisposition to OPLL, with the C allele representing a risk factor for genetic susceptibility to OPLL in Japanese subjects. Therefore, TGF-beta1 genotyping may be useful in the prevention of OPLL.	Control:273 individuals visiting the hospital who did not exhibit any serious diseases or take drugs known to affect bone or calcium metabolism:Japan;Case:46 subjects with ossification of the posterior longitudinal ligament:Japan										
136015	Y	breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Ziv, E.  et al. 2001	11401606	T29-->C			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			JAMA. 2001 Jun;285(22):2859-63	Association between the T29-->C polymorphism in the transforming growth factor beta1 gene and breast cancer among elderly white women: The Study ofOsteoporotic Fractures.		190180	14207	2	2001	 Our findings suggest that TGF-beta1 genotype is associated with risk of breast cancer in white women aged 65 years or older. Because the T allele is the common variant and confers an increased risk, it may be associated with a large proportion of breast cancer cases.	Cohort 3075 community-dwelling women aged 65 years or older who were recruited at 4 US centers US 1986 - 1988 										
136016	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Holla, L. I.  et al. 2002	11966931				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDPinfo	7040	Hs.155218			Journal of clinical periodontology. 2002 Apr;29(4):336-41	5 polymorphisms in the transforming growth factor-beta 1 gene (TGF-beta 1) in adult periodontitis		190180	14208	2	2002	 These data indicate that the mentioned polymorphisms of the TGF-beta 1 gene do not influence susceptibility to adult periodontitis. There was no association between any polymorphisms in the TGF-beta 1 gene, severity of periodontitis and the smoking status in our study.	Control:108 unrelated subjects;Case:90 patients with adult periodontitis	smoking (tobacco)									
136010	N	cardiac transplantation	CARDIOVASCULAR	CARD	Acute Disease	19	19q13.2	TGFB	46528490	46551656	n	Bijlsma FJ et al. 2002	12182464				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812			KGB	7040	Hs.1103			Transplant immunology. 2002 Jun;10(1):43-7	No association between transforming growth factor beta gene polymorphism and acute allograft rejection after cardiac transplantation.			5833	1	2002	We conclude that  genetic variation in the TGF-beta1 gene neither influences the existence of cardiomyopathy nor the incidence of rejection upon HTX.											
136012	Y	early onset ischemic heart disease.	CARDIOVASCULAR	CARD	Myocardial Ischemia	19	19q13.2	TGFB	46528490	46551656		Biggart S et al. 1998	9825196				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812			KGB	7040	Hs.1103			Clinical cardiology. 1998 Nov;21(11):831-6	Association of genetic polymorphisms in the ACE ApoE and TGF beta genes with early onset ischemic heart disease.			5835	1	1998	 The frequency of the ACE D allele was significantly lower in the patient group (0.475) than in the control group (0.59, p = 0.03), which was attributed to a reduction in the number of patients with the DD genotype (patients: 24% DD, controls: 33% DD). Sudden cardiac death was also associated with the DD genotype. These data are consistent with the ACE D allele contributing to a fatal outcome. No association between the DD genotype and risk of myocardial infarction, presenting age, extent of vessel disease, family history, hypertension, or hypercholesterolemia was seen. Analysis of the ApoE genotype showed no association with early onset IHD. There was no evidence for a synergistic effect between the ACE and ApoE genotypes on the risk of early onset IHD. A polymorphism in the TGF beta 2 gene was rare and not associated with early onset IHD.											
136013	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Genetic Predisposition to Disease	19	19q13.2	TGFB	46528490	46551656	n	Chou HT et al. 2002	12150293				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812	Chinese	Taiwan	KGB	7040	Hs.1103			The Journal of heart valve disease. 2002 Jul;11(4):478-84	Lack of association between transforming growth factor-beta1 gene polymorphisms and mitral valve prolapse in Taiwan Chinese.			5836	1	2002	 These findings suggest that the C-509T and T869C polymorphisms of the TGF-beta1 gene are not suitable genetic markers of MVP in Taiwan Chinese.											
136006	N	keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Bayat A 2004	15009106				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease: transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		190180	5829	1	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
136007	N	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	19	19q13.2	TGFB1	46528490	46551656	n	Lee JG et al. 2003	12572925				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Korea	KGB	7040	Hs.155218			Clinical nephrology. 2003 Jan;59(1):6-Oct	No association of the TGF-beta1 gene polymorphisms with the renal progression in autosomal dominant polycystic kidney disease (ADPKD) patients.		190180	5830	1	2003	 Our results suggest that the polymorphism at Arg25Pro of TGF-beta1 in the Korean population has an allele distribution different from that ofthe Western population and that the polymorphism at Leu10Pro of TGF-beta1 has no association with the renal progression in Korean ADPKD patients.											
136008	Y	increased incidence of invasive breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness	19	19q13.2	TGFB	46528490	46551656		Dunning AM et al. 2003	12750287				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812			KGB	7040	Hs.1103			Cancer research. 2003 May;63(10):2610-5	A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer.			5831	1	2003												
136002	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	0.0006	Gottenberg JE 2004	14872501			coding sequence	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	French		KGB	7040	Hs.155218			Arthritis and rheumatism. 2004 Feb;50(2):570-80	Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome.		190180	5825	1	2004	 TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGFbeta1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.	Case:129 French Sjogren's syndrome patients;Control:96 unrelated healthy subjects										
136004		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Jaakkola E 2004	12890863				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Finnish	Finland|England	KGB	7040	Hs.155218			Rheumatology (Oxford, England). 2004 Jan;43(1):32-8	The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis.		190180	5827	1	2004	 This study suggests that the polymorphisms within the TGFB1 gene play at most a small role in AS and that other genes encoded on chromosome 19 are involved in susceptibility to the disease.											
136005		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Akai Y 2001	11576951				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			Y Wang	7040	Hs.155218	Complications		American journal of kidney diseases. 2001 Oct;38(4 Suppl 1):S182-5	Association of transforming growth factor-beta1 T29C polymorphism with the progression of diabetic nephropathy.		190180	5828	1	2001												
135998		diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1	19	19q13.2	TGFB1	46528490	46551656		Pociot F 2004	9848784				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Denmark	Y Wang	7040	Hs.155218			Journal of the American Society of Nephrology. 1998 Dec;9(12):2302-7	TGF-beta1 gene mutations in insulin-dependent diabetes mellitus and diabetic nephropathy.		190180	5821	1	2004												
135999	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Schotte H 2003	12630751				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Caucasian		Y Wang	7040	Hs.155218			Lupus. 2003 ;12(2):86-92	The transforming growth factor-beta1 gene polymorphism (G915C) is not associated with systemic lupus erythematosus.		190180	5822	1	2003												
136000		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Shu XO 2004	14871809				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Cancer research. 2004 Feb;64(3):836-9	Genetic polymorphisms in the TGF-beta 1 gene and breast cancer survival: a report from the Shanghai Breast Cancer Study.		190180	5823	1	2004												
136001		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	19	19q13.2	TGFB1	46528490	46551656		Beranek M 2002	11992481	R25P			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Caucasian		Y Wang	7040	Hs.155218	diabetic retinopathy		American journal of medical genetics. 2002 May;109(4):278-83	Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy.		190180	5824	1	2002												
135994	Y	idiopathic pulmonary fibrosis	OTHER	OTH	Pulmonary Fibrosis|Disease Progression	19	19q13.2	TGFB1	46528490	46551656	0.002	Xaubet A 2003	12746254			coding sequence	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	white subjects from Spain		KGB	7040	Hs.155218			American journal of respiratory and critical care medicine. 2003 Aug;168(4):431-5	Transforming growth factor-beta1 gene polymorphisms are associated with disease progression in idiopathic pulmonary fibrosis.		190180	5817	1	2003		Case:128; Control:140										
135995		Asthma	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656		Silverman ES 2004	14597484			5' promoter	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			American journal of respiratory and critical care medicine. 2004 Jan;169(2):214-9	Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma.		190180	5818	1	2004	We conclude that  the T allele of C-509T is associated with the diagnosis of asthma and may enhance TGF-beta1 gene transcription.											
135996		chronic obstructive pulmonary disease	CARDIOVASCULAR	CARD	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Wu L 2004	14760152				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Thorax. 2004 Feb;59(2):126-9	Transforming growth factor-beta1 genotype and susceptibility to chronic obstructive pulmonary disease.		190180	5819	1	2004	 The proline allele at codon 10 of the TGF-beta1 gene occurs more commonly in control subjects than in individuals with COPD. This allele is associated with increased production of TGF-beta1 which raises the possibility that TGF-beta1 has a protective role in COPD.											
135990	N	hepatitis C infection	INFECTION	INF	Hepatitis C	19	19q13.2	TGFB1	46528490	46551656		Barrett S 2003	12938195				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection.		190180	5813	1	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive))										
135992		systemic sclerosis	OTHER	OTH	Pulmonary Fibrosis|Scleroderma, Systemic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Sugiura Y 2003	12858451				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			The Journal of rheumatology. 2003 Jul;30(7):1520-3	Transforming growth factor beta1 gene polymorphism in patients with systemic sclerosis.		190180	5815	1	2003	 Our results suggest that TGFbeta1 polymorphisms do not play a role in the pathogenesis of SSc, even though there remains the possibility of a risk factor for genetic susceptibility to pulmonary fibrosis.											
135993		Camurati-Engelmann disease	OTHER	OTH	Camurati-Engelmann Syndrome	19	19q13.2	TGFB1	46528490	46551656		McGowan NW 2003	12843182				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3321-6	A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.		190180	5816	1	2003												
135987	Y	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	19	19q13.2	TGFB1	46528490	46551656	0.005	Kerr JR 2003	14514772	869			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218	B19 infected group was associated with skin rash at acute infection		Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		190180	5810	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
135988	Y	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	19	19q13.2	TGFB1	46528490	46551656	0.02	Kerr JR 2003	14514772	+915 Codon 25			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218	parvovirus group		Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		190180	5811	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
135989		autoimmune-associated congenital heart block.	IMMUNE	IMM	Fetal Diseases|Heart Block|Exanthema|Autoimmune Diseases|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Clancy RM 2003	12960355				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Journal of immunology (Baltimore, Md :  1950). 2003 Sep;171(6):3253-61	Cytokine polymorphisms and histologic expression in autopsy studies: contribution of TNF-alpha and TGF-beta 1 to the pathogenesis of autoimmune-associated congenital heart block.		190180	5812	1	2003												
135982	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Yamada Y et al. 2002	12032592				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese		KGB	7040	Hs.155218			Journal of human genetics. 2002 ;47(5):243-8	Association of a polymorphism of the transforming growth factor-beta1 gene with blood pressure in Japanese individuals.		190180	5805	1	2002												
135983	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	n	Pokorny V 2003	12922971				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	caucasian		KGB	7040	Hs.155218			Annals of the rheumatic diseases. 2003 Sep;62(9):907-8	Transforming growth factor beta 1 gene (HSTGFB1) nucleotide T869C (codon 10) polymorphism is not associated with prevalence or severity of rheumatoid arthritis in a Caucasian population.		190180	5806	1	2003												
135985		childhood idiopathic thrombocytopenic purpura.	HEMATOLOGICAL	HEM	Purpura, Thrombocytopenic, Idiopathic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Atabay B 2003	14608199				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Journal of pediatric hematology/oncology. 2003 Nov;25(11):885-9	Role of transforming growth factor-beta 1 gene polymorphisms in childhood idiopathic thrombocytopenic purpura.		190180	5808	1	2003	 These results demonstrate that the frequency of TGF-beta1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms and alleles do not play a role as a genetic risk factor in the development and clinical progress of ITP. Different results may be obtained with further studies involving larger patient populations and other TGF-beta 1 gene polymorphisms.											
135979		HCV-induced liver fibrosis	OTHER	OTH	Hepatitis C|Liver Cirrhosis|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Gewaltig J et al. 2002	11750277	(-800G>A; -509C>T; Leu10Pro; Arg25Pro)			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218	rate of progression		Clinica chimica acta; international journal of clinical chemistry. 2002 Feb;316(2-Jan):83-94	Association of polymorphisms of the transforming growth factor-beta1 gene with the rate of progression of HCV-induced liver fibrosis.		190180	5802	1	2002	 Our results indicate that the heterozygous ArgPro of codon 25 predicts significantly faster fibrotic progression of chronic hepatitis C than the homozygous (25)ArgArg genotype. The homozygous LeuLeu genotype of codon 10 showed a slow progression of fibrosis.											
135980	Y	osteoporosis	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Yamada Y et al. 1998	9783545				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	KGB	7040	Hs.155218			Journal of bone and mineral research. 1998 Oct;13(10):1569-76	Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women.		190180	5803	1	1998												
135981	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.2	TGFB1	46528490	46551656	n	Frossard PM et al. 2000	10950405				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			American journal of hypertension. 2000 Aug;13(8):944-5	Lack of association between human TGF-beta1 gene variants and primary hypertension.		190180	5804	1	2000												
135974	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Hinke V et al. 2001	11800227				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Germany	KGB	7040	Hs.155218			Calcified tissue international. 2001 Dec;69(6):315-20	Association of transforming growth factor-beta1 (TGFbeta1) T29 --> C gene polymorphism with bone mineral density (BMD) changes in BMD and serum concentrations of TGF-beta1 in a population-based sample of postmenopausal german women.		190180	5797	1	2001												
135976		Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity	19	19q13.2	TGFB1	46528490	46551656		Hobbs K 1998	9847292	C-509T			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			American journal of respiratory and critical care medicine. 1998 Dec;158(6):1958-62			190180	5799	1	1998												
135977	Y	cardiovascular	CARDIOVASCULAR	CARD	Kidney Failure	19	19q13.2	TGFB1	46528490	46551656		Baan CC et al. 2000	11008076				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			The Journal of heart and lung transplantation. 2000 Sep;19(9):866-72	Renal failure after clinical heart transplantation is associated with the TGF-beta 1 codon 10 gene polymorphism.		190180	5800	1	2000	 Our data support the hypothesis that TGF-beta 1 is involved in the process leading to renal insufficiency in cyclosporine-treated cardiac allograft recipients. In these patients the presence of TGF-beta 1 Pro(10) might be a risk factor.											
135970	Y	prevalent vertebral fractures	OTHER	OTH	Fractures, Bone	19	19q13.2	TGFB1	46528490	46551656		Yamada Y et al. 2000	10974189				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	KGB	7040	Hs.155218			The American journal of medicine. 2000 Aug;109(3):244-7	Association of a polymorphism of the transforming growth factor beta-1 gene with prevalent vertebral fractures in Japanese women.		190180	5793	1	2000												
135972	Y	ossification of the posterior longitudinal ligament	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Kamiya M et al. 2001	11389394				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	KGB	7040	Hs.155218			Spine. 2001 Jun;26(11):1264-6; discussion 1266-7	Association between a polymorphism of the transforming growth factor-beta1 gene and genetic susceptibility to ossification of the posterior longitudinal ligament in Japanese patients.		190180	5795	1	2001	 The T869-->C polymorphism of the TGF-beta1 gene is a genetic determinant of a predisposition to OPLL, with the C allele representing a risk factor for genetic susceptibility to OPLL in Japanese subjects. Therefore, TGF-beta1 genotyping may be useful in the prevention of OPLL.	Control:273 individuals visiting the hospital who did not exhibit any serious diseases or take drugs known to affect bone or calcium metabolism:Japan;Case:46 subjects with ossification of the posterior longitudinal ligament:Japan										
135973		fibrotic lung disease	OTHER	OTH	Pulmonary Fibrosis|Postoperative Complications	19	19q13.2	TGFB1	46528490	46551656		Awad MR et al. 1998	9808485				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Transplantation. 1998 Oct;66(8):1014-20	Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production fibrotic lung disease and graft fibrosis after lung transplantation.		190180	5796	1	1998	 The production of TGF-beta1 is under genetic control, and this in turn influences the development of lung fibrosis. Hence, the TGF-beta1 genotype has prognostic significance in transplant recipients.											
135966	Y	bone mineral density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Keen RW et al. 2001	11157141				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Rheumatology (Oxford, England). 2001 Jan;40(1):48-54	Evidence of association and linkage disequilibrium between a novel polymorphism in the transforming growth factor beta 1 gene and hip bone mineral density: a study of female twins.		190180	5789	1	2001	 These results indicate that allelic variation at the TGF-beta 1 gene contributes to the development of osteoporosis at the hip. The study also highlights the power of candidate gene analysis in twins, in whom loci having modest effects on disease risk can be identified.											
135967	Y	radiation-induced damage to normal tissues	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	19	19q13.2	TGFB1	46528490	46551656		Quarmby S et al. 2003	12569017				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			International journal of radiation biology. 2003 Feb;79(2):137-43	Association of transforming growth factor beta-1 single nucleotide polymorphisms with radiation-induced damage to normal tissues in breast cancer patients.		190180	5790	1	2003	 These findings imply a role for the -509T and +869C alleles in the pathobiological mechanisms underlying susceptibility to radiation-induced fibrosis. Their predictive value would be limited to patients who are -509TT or +869CC, but if fibrosis-associated polymorphic sites in other genes could be identified, it may be possible to detect fibrosis prone individuals before radiotherapy with greater certainty.											
135969	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Yokota M et al. 2000	10859282				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	KGB	7040	Hs.155218			Circulation. 2000 Jun;101(24):2783-7	Association of a T29-->C polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to myocardial infarction in Japanese.		190180	5792	1	2000	 Findings suggest that the T allele at nucleotide 29 in the TGF-beta1 gene is a risk factor for genetic susceptibility to MI, at least in middle-aged Japanese men.											
135962	Y	Asthma severity	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656	P=0.016	Pulleyn LJ 2001	11810274	C-509T			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	U.K. Caucasian		KCB	7040	Hs.155218			Human genetics. 2001 Dec;109(6):623-7			190180	5785	1	2001												
135963	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	P <.0001	Arkwright PD 2001	11496247				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			The Journal of allergy and clinical immunology. 2001 Aug;108(2):281-4			190180	5786	1	2001	 TGFB1 genotype may partly explain the strong genetic predisposition to AD.											
135964		end-stage heart failure	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Heart Failure|Myocardial Ischemia	19	19q13.2	TGFB1	46528490	46551656		Holweg CT 2001	11557193				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			The Journal of heart and lung transplantation. 2001 Sep;20(9):979-84			190180	5787	1	2001	 The Leu(10)-->Pro (codon 10) polymorphism in the TGF-beta1 gene is associated with end-stage heart failure caused by dilated CMP and not with IHD. This observation suggests that TGF-beta1 is involved in the pathogenesis of CMP.											
135965	Y	Asthma severity	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656	P=0.016	Pulleyn LJ 2001	11810274	C(-509)-->T polymorphism			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KCB	7040	Hs.155218			Human genetics. 2001 Dec;109(6):623-7			190180	5788	1	2001												
135958	N	Asthma severity	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656	n	Pulleyn LJ 2001	11810274	T869C			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	U.K. Caucasian		KCB	7040	Hs.155218			Human genetics. 2001 Dec;109(6):623-7			190180	5781	1	2001												
135959	N	Asthma severity	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656	n	Pulleyn LJ 2001	11810274	G915C			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	U.K. Caucasian		KCB	7040	Hs.155218			Human genetics. 2001 Dec;109(6):623-7			190180	5782	1	2001												
135960	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	n	Hakonarson H 2001	11739132	C-509T			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Icelandic	Iceland	KCB	7040	Hs.155218			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			190180	5783	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
135961	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	n	Tiret L 2000	10636255	R25P polymorphism			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			190180	5784	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
135954		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438			16311697				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDPinfo	7039	Hs.170009			Rev Med Chil. 2005 Sep;133(9):1051-8	[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population.]		190170	25630	2	2005												
135955		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		2	2p13	TGFA	70527924	70634438		De Capei, M. U.  et al. 2003	12558814				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDPinfo	7039	Hs.170009			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		190170	28001	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
135956		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	2	2p13	TGFA	70527924	70634438		Murray, J. C.   2002	12030886				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDPinfo	7039	Hs.170009			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		190170	28113	2	2002	Review article											
135957	N	Asthma severity	IMMUNE	IMM	Asthma	19	19q13.2	TGFB1	46528490	46551656	n	Pulleyn LJ 2001	11810274	72insC			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	U.K. Caucasian		KCB	7040	Hs.155218			Human genetics. 2001 Dec;109(6):623-7			190180	5780	1	2001												
135951	N	cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Passos-Bueno, M. R.  et al. 2004	15222785				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		Brazil	CDC GDPinfo	7039	Hs.170009			The Cleft palate-craniofacial journal. 2004 Jul;41(4):387-91	Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.		190170	19825	2	2004	 These data further suggest that TGFA is not a relevant modifier locus for the occurrence of CL/P.	Control:412:controls;Case:536 patients with nonsyndromic CL/P										
135952		oral clefts	OTHER	OTH	Cleft Palate|Cleft Lip|Prenatal Exposure Delayed Effects	2	2p13	TGFA	70527924	70634438		Zeiger, J. S.  et al. 2005	15643916				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDPinfo	7039	Hs.170009			The Cleft palate-craniofacial journal. 2005 Jan;42(1):58-63	Oral Clefts, Maternal Smoking, and TGFA: AMeta-Analysis of Gene-Environment Interaction.		190170	19826	2	2005	 While maternal smoking was a consistent risk factor for both CL/P and CP across all studies, the suggestive evidence for gene-environment interaction between the infant's genotype at the Taq1 marker in TGFA and maternal smoking was limited to CP. Furthermore, evidence for such gene-environment interaction was strongest in a case-control study drawn from a birth defect registry where infants with non-cleft defects served as controls.		smoking (tobacco), maternal									
135953		cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2p13	TGFA	70527924	70634438		Jugessur, A.  et al. 2003	12652527				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		Norway	CDC GDPinfo	7039	Hs.170009			Genetic epidemiology. 2003 Apr;24(3):230-9	Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts:a case-parent triad analysis.		190170	23628	2	2003	In conclusion, no strong associations were found between CL+/-P and variants at these three genes. There was a possible recessive effect of the TGFA TaqI variant on the risk of CPO, with a 3-fold risk among children homozygous for the variant. The effect of this TGFA genotype was even stronger among children homozygous for the MSX1-CA A4 allele, raising the possibility of interaction between these two genes. Genet Epidemiol	Cohort 262 case-parent triads from a population-based study of orofacial clefts Norway 										
135948		birth defects	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Prenatal Exposure Delayed Effects	2	2p13	TGFA	70527924	70634438		Hwang SJ et al. 1995	7702037				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		Maryland	KGB	7039	Hs.170009			American journal of epidemiology. 1995 Apr;141(7):629-36	Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects.		190170	5779	1	1995												
135949	Y	cleft lip with cleft palate; cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Zhang, W. G.  et al. 2004	15449618				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		China	CDC GDPinfo	7039	Hs.170009			Zhonghua zheng xing wai ke za zhi. 2004 May;20(3):190-3	[The TGF-alpha gene Taq I polymorphism and non-syndromic cleft lip with or without cleft palate]		190170	14204	2	2004	 These findings demonstrate the role of TGF-alpha as a gene of major effects in the development of nonsyndromic cleft lip with or without cleft palate clefts in human. These findings suggest that a family history of clefting may correlate with the TGF-alpha Taq I rare variation.	Control healthy controls;Case:107 patients with nonsyndromic cleft lip with or without cleft palate (NSCL/P):China	family history									
135950	N	oral cancer	CANCER	CAN	Mouth Neoplasms	2	2p13	TGFA	70527924	70634438		Kang, D.  et al. 2005	15864136				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		Puerto Rico	CDC GDPinfo	7039	Hs.170009			Pharmacogenetics and genomics. 2005 May;15(5):343-7	Microsatellite polymorphisms in the epidermal growth factor receptor (EGFR) gene and the transforming growth factor-alpha (TGFA) gene and risk of oral cancer in Puerto Rico.		190170	14205	2	2005	 The EGFR-associated risk appeared to be independent of tobacco and alcohol use and may be restricted primarily to subjects who consumed low amounts of fresh fruits and vegetables (OR=5.9, 95%CI: 2.3-15.2). These data implicate dietary and molecular targets for oral cancer prevention.	Control:149:controls;Case:157 oral cancer cases Puerto Rico	alcohol diet smoking (tobacco)									
135943	N	thyroiditis, chronic lymphocytic	UNKNOWN	UNK	Hypothyroidism|Autoimmune Diseases|Graves Disease	8	8q24.2-q24.3	TG	133948386	134216325		Collins, J. E.  et al. 2004	15579800				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4		Great Britain	CDC GDPinfo	7038	Hs.584811			The Journal of clinical endocrinology and metabolism. 2004 Dec;89(12):6336-9	Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom.		188450	19823	2	2004	These data suggest that the recently identified single nucleotide polymorphisms do not have a causal role for AITD in the UK. At this stage, we cannot exclude the Tg region as harboring a susceptibility locus for AITD, and only large scale sequencing and fine mapping of the region, including neighboring genes, will allow us to identify any potential causal variants within this region.	Control:controls;Case autoimmune thyroid disease cases										
135944		Cleft lip and palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Jara L et al. 1993	8272608				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1		Chile	KGB	7039	Hs.170009			Rev Med Chil. 1993 Apr;121(4):390-5	Cleft lip and palate in the Chilean population: association with BamH1 polymorphism of the transforming growth factor alpha (TGFA) gene		190170	5775	1	1993												
135945	Y	non-syndromic cleft lip and palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Holder SE et al. 1992	1352354				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			KGB	7039	Hs.170009			Journal of medical genetics. 1992 Jun;29(6):390-2	Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate.		190170	5776	1	1992												
135940	Y	Graves' disease; thyroiditis, chronic lymphocytic	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	8	8q24.2-q24.3	TG	133948386	134216325		Ban, Y.  et al. 2004	15272924				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4	Japanese	Japan	CDC GDPinfo	7038	Hs.584811			Clinical endocrinology. 2004 Aug;61(2):263-8	Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population.		188450	14203	2	2004	 Our results confirm the previous reports of an association between the Tg gene and AITD and suggest that Tg is an AITD susceptibility gene.	Case:308 Japanese autoimmune thyroid disease patients (194 GD and 114 HT patients);Control:417 Japanese control subjects										
135941	Y	thyroiditis, chronic lymphocytic	IMMUNE	IMM	Thyroiditis, Autoimmune	8	8q24.2-q24.3	TG	133948386	134216325		Collins, J. E.  et al. 2003	14557492				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4		Great Britain	CDC GDPinfo	7038	Hs.584811			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):5039-42	Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease		188450	19821	2	2003	Although these findings may represent a random chance event, in view of previous reports of linkage and association of this gene region to AITD, this may be an example of a rare causal variant of a complex disease.	Case autoimmune thyroid disease cases;Control:controls										
135942		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	8	8q24.2-q24.3	TG	133948386	134216325		Matakidou, A.  et al. 2003	14633662				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4			CDC GDPinfo	7038	Hs.584811			Carcinogenesis. 2004 Mar;25(3):369-73	Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene.		188450	19822	2	2003	Although the risk of NMTC associated with the TgQ2511R - R allele is modest, its high prevalence in the general population suggests it may make a significant contribution to the incidence of NMTC.	Case:102 Canadian thyroid cancer cases:Canada;Control:102:controls:Canada;Case:202 British thyroid cancer cases:UK;Control:298:controls:UK										
135937	Y	autoimmune thyroid disease	IMMUNE	IMM	Thyroiditis, Autoimmune	8	8q24.2-q24.3	TG	133948386	134216325		Collins JE 2003	14557492				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4		Great Britain	KGB	7038	Hs.584811			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):5039-42	Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease.		188450	5772	1	2003	Although these findings may represent a random chance event, in view of previous reports of linkage and association of this gene region to AITD, this may be an example of a rare causal variant of a complex disease.	Case autoimmune thyroid disease cases;Control:controls										
135938		congenital goiter and defective TG synthesis.	OTHER	OTH	Goiter	8	8q24.2-q24.3	TG	133948386	134216325		Gutnisky VJ 2004	14764776				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4		Brazil	KGB	7038	Hs.584811			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):646-57	Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.		188450	5773	1	2004												
135939		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	8	8q24.2-q24.3	TG	133948386	134216325		Matakidou A 2004	14633662				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4			KGB	7038	Hs.584811			Carcinogenesis. 2004 Mar;25(3):369-73	Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene.		188450	5774	1	2004	Although the risk of NMTC associated with the TgQ2511R - R allele is modest, its high prevalence in the general population suggests it may make a significant contribution to the incidence of NMTC.	Case:102 Canadian thyroid cancer cases:Canada;Control:102:controls:Canada;Case:202 British thyroid cancer cases:UK;Control:298:controls:UK										
135933		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Hemochromatosis	3	3q29	TFRC	197260746	197293358		McGlynn, K. A.  et al. 2005	15668490				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1			CDC GDPinfo	7037	Hs.529618			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):158-63	Hemochromatosis gene mutations and distal adenomatous colorectal polyps.		190010	23626	2	2005	There was no relationship between any HFE genotype or haplotype and advanced adenoma. Stratification of HFE genotype by TFRC genotype did not change the results. In addition, there was no relationship between dietary iron intake and risk of adenoma or between HFE genotype and risk of adenoma, stratified by iron intake. These results do not support a relationship between HFE heterozygosity and risk of advanced distal adenoma.	Case:679 persons with the advanced distal adenoma from the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial;Control:697:controls										
135934		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3q29	TFRC	197260746	197293358		Robinson, J. P.  et al. 2005	15941956				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1			CDC GDPinfo	7037	Hs.529618			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1460-3	Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.		190010	23627	2	2005												
135936		breast cancer	CANCER	CAN	Breast Neoplasms|Hemochromatosis	3	3q29	TFRC	197260746	197293358		Abraham, B. K.  et al. 2005	15894659				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1	German	Germany	CDC GDPinfo	7037	Hs.529618			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1102-7	Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.		190010	26619	2	2005	Our data suggest that variants of the hemochromatosis-transferrin receptor system have no direct effect on the incidence of breast cancer in Germany. Possible effects on tumor progression and prognosis remain elusive.	Case:688 breast cancer patients:Germany;Control:724 population-based and age-matched controls										
135930	Y	cirrhosis; hepatocellular carcinoma	UNKNOWN	UNK	Carcinoma, Hepatocellular|Liver Neoplasms|Hemochromatosis	3	3q29	TFRC	197260746	197293358		Beckman, L. E.  et al. 2000	11096344				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1			CDC GDPinfo	7037	Hs.529618			Oncology. 2000 Nov;59(4):317-22	Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma.		190010	23623	2	2000	Individuals carrying the HFE282Tyr allele (homo- and heterozygotes) in combination with homozygosity for the TFR Ser allele showed an increased risk for HCC (OR = 3.5; 95% confidence interval, CI = 1.3-9.3), which was further increased in HFE Tyr homozygotes and compound (Tyr/Asp) heterozygotes in combination with TFR 142Ser homozygosity (OR = 17.2; 95% CI = 1.8-168.9). The presence of liver cirrhosis could only be assessed in part of the patient material. In patients with verified liver cirrhosis the risk figures were substantially	Cohort 54 patients with hepatocellular carcinoma Sweden 										
135931		porphyria cutanea tarda	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda|Hemochromatosis|Genetic Predisposition to Disease	3	3q29	TFRC	197260746	197293358		Lamoril, J.  et al. 2002	11929045				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1		France	CDC GDPinfo	7037	Hs.529618			Cellular and molecular biology (Noisy-le-Grand, France). 2002 Feb;48(1):33-41	Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).		190010	23624	2	2002	Analysis of HFE genotypes indicated that C282Y (but not H63D nor S65C) is a susceptibility factor for the development of sPCT in West European continental patients. However, analysis of TFRC1 genotypes suggest that sPCT should be considered as a multifactorial disorder in which other intracellular iron metabolism genes could be involved.											
135932		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	3	3q29	TFRC	197260746	197293358		Bonkovsky, H. L.  et al. 2002	12445428				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1			CDC GDPinfo	7037	Hs.529618			Journal of hepatology. 2002 Dec;37(6):848-54	Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C.		190010	23625	2	2002	 Hepatic iron and HFE mutations are comorbid factors that increase development and progression of chronic hepatitis C.	Control:controls;Case:119 consecutive patients with chronic hepatitis C										
135926		iron levels	METABOLIC	MET	Iron Overload	7	7q22	TFR2	100055974	100078338		De Gobbi, M.  et al. 2003	12681966				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2	Italian	Italy	CDC GDPinfo	7036	Hs.544932			Haematologica. 2003 Apr;88(4):396-401	Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload.		604720	23620	2	2003	 Our results confirm previous findings on C282Y and H63D mutations in Italy, show that the C282Y allele frequency is enriched in samples selected for altered iron parameters, and that a few rare genotypes are present in Northern Italy. None of the known TFR2 mutations was identified in this series confirming the preliminary indication of their rare occurrence. Subjects with hemochromatosis-associated genotypes show a persistently higher mean transferrin saturation than do those with wild type genotypes.	Cohort 178 DNA samples selected for increased transferrin saturation (>50% in males and >45% in females) from a previous large scale screening of Italian blood donors 										
135927		rheumatoid arthritis	IMMUNE	IMM	Chondrocalcinosis|Rheumatic Diseases|Hemochromatosis	7	7q22	TFR2	100055974	100078338		Rovetta, G.  et al. 2004	15785438				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2		Italy	CDC GDPinfo	7036	Hs.544932			Minerva medica. 2004 Dec;95(6):535-9	Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients.		604720	23621	2	2004	 The conclusion is drawn that this mutation may be correlated to various rheumatic diseases.	Cohort 118 consecutive patients (28 males, 90 females, mean age 58.5+/-13.44) Liguria 										
135929		breast cancer	CANCER	CAN	Breast Neoplasms|Hemochromatosis	7	7q22	TFR2	100055974	100078338		Abraham, B. K.  et al. 2005	15894659				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2	German	Germany	CDC GDPinfo	7036	Hs.544932			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1102-7	Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.		604720	25628	2	2005	Our data suggest that variants of the hemochromatosis-transferrin receptor system have no direct effect on the incidence of breast cancer in Germany. Possible effects on tumor progression and prognosis remain elusive.	Case:688 breast cancer patients:Germany;Control:724 population-based and age-matched controls										
135923		Type 3 hemochromatosis	METABOLIC	MET	Liver Cirrhosis|Cardiomyopathy, Dilated|beta-Thalassemia|Hemochromatosis|Iron Overload|Disease Progression	7	7q22	TFR2	100055974	100078338		Riva A 2004	15059075				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2			KGB	7036	Hs.544932	beta-thalassemia trait		European journal of haematology. 2004 May;72(5):370-4	Type 3 hemochromatosis and beta-thalassemia trait.		604720	5771	1	2004												
135924	Y	iron load	METABOLIC	MET	Hemochromatosis|Iron Overload	7	7q22	TFR2	100055974	100078338		Barton, E. H.  et al. 2001	11358388				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2	African American	Alabama|Italy	CDC GDPinfo	7036	Hs.544932			Blood cells, molecules & diseases. 2001 Jan-Feb;27(1):279-84	Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload		604720	19809	2	2001	We conclude that  Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.	Cohort control Caucasians, including persons of southern Italian/Sicilian heritage and control African Americans 										
135925	N	iron levels	METABOLIC	MET	alpha-Thalassemia|Hemochromatosis|Iron Overload	7	7q22	TFR2	100055974	100078338		Chan, V.  et al. 2003	12667993				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2		China	CDC GDPinfo	7036	Hs.544932			Blood cells, molecules & diseases. 2003 Jan-Feb;30(1):107-11	Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease?		604720	23619	2	2003	Since only eight out of 45 iron-overloaded HbH patients carry a defect in the TFR2 or HFE gene in the heterozygote state and their iron loading status was comparable to the matched controls without such defects, it would appear that the accumulation of excess iron in HbH disease is more likely a result of increase dietary absorption secondary to ineffective erythropoiesis.	Control matched controls;Case:45 Chinese HbH disease patients										
135920	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	2	2q31-q32.1	TFPI	188037202	188127464		Welsby, I. J.  et al. 2005	15892865				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDPinfo	7035	Hs.516578			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		152310	27636	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
135921		Juvenile Hemochromatosis	HEMATOLOGICAL	HEM	Hemochromatosis	7	7q22	TFR2	100055974	100078338		Montes- Cano M 2002	12064925				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2	Spanish	Spain	TJB	7036	Hs.544932			Blood cells, molecules & diseases. 2002 Mar-Apr;28(2):297-300			604720	5769	1	2002												
135922		Hemochromatosis	METABOLIC	MET	Hemochromatosis|Genetic Predisposition to Disease	7	7q22	TFR2	100055974	100078338		Rivers CA et al. 2001	11551099				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2		Africa|Egypt|Alabama|Lebanon|Europe|Italy	KGB	7036	Hs.544932			Genetic testing. 2001 ;5(2):131-4	A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene.		604720	5770	1	2001												
135916		thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	2	2q31-q32.1	TFPI	188037202	188127464		Amini-Nekoo, A.  et al. 2001	11380428				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDPinfo	7035	Hs.516578			British journal of haematology. 2001 May;113(2):537-43	Analysis of the tissue factor pathway inhibitor gene and antigen levels in relation to venous thrombosis.		152310	19807	2	2001	These results provide evidence for a relationship between venous thrombosis and total TFPI level as a possible risk factor, whereas they do not support a link between DVT and mutations in the nine exons of the TFPI gene.	Control:292 age and sex matched volunteers, from age-stratified registers of general medical practitioners serving the same geographical areas as that of the patients;Case:317 patients with deep vein thrombosis										
135917	N	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebral Infarction|Ischemic Attack, Transient|Thrombophilia	2	2q31-q32.1	TFPI	188037202	188127464		Junker, R.  et al. 2002	12038800				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDPinfo	7035	Hs.516578			Thrombosis and haemostasis. 2002 May;87(5):920-1	The tissue factor pathway inhibitor C536T mutation is not associated with the risk of stroke in young adults.		152310	19808	2	2002	In conclusion, the TFPI C536T mutation constitutes no risk factor for juvenile stroke. Nevertheless, it cannot be excluded that under specific circumstances the mutation may increase the risk for arterial or venous thrombosis	Case:350 stroke patients (up to 45 years of age);Control:350 blood donors or the same age- and sex- distribution and the same ethnic background										
135918	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	2	2q31-q32.1	TFPI	188037202	188127464		Ameziane, N.  et al. 2002	12195688				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDPinfo	7035	Hs.516578			Thrombosis and haemostasis. 2002 Aug;88(2):195-9	The -33T-->C polymorphism in intron 7 of the TFPI gene influences the risk of venous thromboembolism, independently of the factor V Leiden and prothrombin mutations		152310	23617	2	2002	These results suggest that the CC genotype of the TFPI intron 7 polymorphism is an independent protective factor for venous thromboembolism, an effect probably mediated by increased TFPI levels.	Case:330 cases with venous thromboembolism;Control:826:controls										
135913		pancreatic carcinoma	CANCER	CAN	Adenocarcinoma|Breast Neoplasms|Pancreatic Neoplasms|	21	21q22.3	TFF2	42639535	42644176		Welter C et al. 1992	1735955				Trefoil factor 2 (spasmolytic protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005423.3			KGB	7032	Hs.2979			Laboratory investigation; a journal of technical methods and pathology. 1992 Feb;66(2):187-92	Association of the human spasmolytic polypeptide and an estrogen-induced breast cancer protein (pS2) with human pancreatic carcinoma.		182590	5768	1	1992												
135914	N	restenosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	2	2q31-q32.1	TFPI	188037202	188127464		Moatti, D.  et al. 2001	11460016				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDPinfo	7035	Hs.516578			Blood coagulation & fibrinolysis. 2001 Jun;12(4):317-23	Polymorphisms of the tissue factor pathway inhibitor gene and the risk of restenosis after coronary angioplasty		152310	14201	2	2001	Despite significant variations in plasma TFPI levels, we found no evidence that three polymorphisms of the TFPI gene influence the risk of restenosis. These results do not exclude the possibility that other polymorphisms in the TFPI gene may influence this risk.	Case:443 patients who underwent angioplasty;Control:58 healthy subjects										
135915	N	coagulation disorder	HEMATOLOGICAL	HEM		2	2q31-q32.1	TFPI	188037202	188127464		Sarode, R.   2002	12428111				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4	African American		CDC GDPinfo	7035	Hs.516578			Thrombosis and haemostasis. 2002 Nov;88(5):875-7	Allele frequencies of tissue factor pathway inhibitor polymorphisms in african-american, Hispanic and caucasian populations		152310	14202	2	2002	Allele frequency differences between control and experimental samples did not reach statistical significance.	Control:258 healthy adult volunteers;Case:430 patients with coagulation disorder										
135909	Y	anxiety disorder	PSYCH	PSY		6	6p21-p12	TFAP2B	50894397	50923285		Damberg, M.  et al. 2003	14673213				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			CDC GDPinfo	7021	Hs.33102			Neuropsychobiology. 2003 ;48(4):169-75	Transcription factor AP-2beta genotype associated with anxiety-related personality traits in women. A replication study.		601601	19803	2	2003	Hence, these data further suggest the human AP-2beta gene as a novel candidate gene in personality.	Cohort 370 healthy volunteers 										
135910		dopamine D2 receptor density; monoamine metabolite concentrations	NEUROLOGICAL	NEUR		6	6p21-p12	TFAP2B	50894397	50923285		Damberg, M.  et al. 2004	15057523				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			CDC GDPinfo	7021	Hs.33102			J Neural Transm. 2004 Apr;111(4):537-45	Transcription factor AP-2beta genotype, striatal dopamine D2 receptor density and cerebrospinal fluid monoamine metabolite concentrations in humans.		601601	19804	2	2004	These data may suggest a functional involvement of AP-2beta in the dopaminergic system, but should be interpreted with caution until replicated.	Cohort 52 human subjects 										
135911	N	depression	PSYCH	PSY	Premenstrual Syndrome|Depressive Disorder	6	6p21-p12	TFAP2B	50894397	50923285		Damberg, M.  et al. 2005	15722186				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			CDC GDPinfo	7021	Hs.33102			Neuroscience letters. 2005 Mar;377(1):49-52	Investigation of transcription factor AP-2 beta genotype in women with premenstrual dysphoric disorder.		601601	19805	2	2005	Our results suggest that AP-2beta genotype is not a risk factor for PMDD. To our knowledge, this is the first study investigating transcription factor AP-2beta genotype in women with PMDD. Hence, these results should be considered preliminary until replicated.	Case:176 women with premenstrual dysphoric disorder;Control:91 healthy controls										
135905	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q21	TFAM	59815181	59825903		Gunther, C.  et al. 2004	15464268				Transcription factor A, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003201.1			CDC GDPinfo	7019	Hs.576688			Neuroscience letters. 2004 Oct;369(3):219-23	Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.		600438	19802	2	2004	The findings suggest that a TFAM haplotype containing rs1937 G (for S12) may be a moderate risk factor for AD.	Control:295 nondemented control subjects;Case:372 Alzheimer's disease patients										
135906		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease	6	6p24	TFAP2A	10504901	10527783		Kawanishi Y et al. 2000	10697959				transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001032280		Japan	KGB	7020	Hs.519880			Journal of human genetics. 2000 ;45(1):24-30	Novel polymorphisms of the AP-2 gene (6p24): analysis of association with schizophrenia.		107580	5765	1	2000												
135907	Y	personality traits	PSYCH	PSY		6	6p21-p12	TFAP2B	50894397	50923285		Damberg M et al. 2000	10822354				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			KGB	7021	Hs.33102			Molecular psychiatry. 2000 Mar;5(2):220-4	A polymorphic region in the human transcription factor AP-2beta gene is associated with specific personality traits.		601601	5766	1	2000												
135902		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		3	3q22.1	TF	134901900	134980325		Scheil, H. G.  et al. 2004	15648851				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDPinfo	7018	Hs.518267			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		190000	27635	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
135903		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	3	3q22.1	TF	134901900	134980325			11785295				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDPinfo	7018	Hs.518267			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		190000	28000	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
135904		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325			11436564				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDPinfo	7018	Hs.518267			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		190000	28262	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
135899		iron levels; soluble transferrin receptor; transferrin	METABOLIC	MET	Hemochromatosis	3	3q22.1	TF	134901900	134980325		Berez, V.  et al. 2005	15698609				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Catalan	Spain	CDC GDPinfo	7018	Hs.518267			Clinica chimica acta; international journal of clinical chemistry. 2005 Mar;353(2-Jan):205-8	Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.		190000	23616	2	2005	 The H63D mutation of the HFE gene has a moderate but significant influence on sTfR concentration in the general population, the presence of one or two mutated alleles being associated with an average of 0.27 mg/L less sTfR than nonmutated homozygotes.	Cohort 348 subjects 										
135900		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	3	3q22.1	TF	134901900	134980325		Robson, K. J.  et al. 2004	15060098				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	European		CDC GDPinfo	7018	Hs.518267			Journal of medical genetics. 2004 Apr;41(4):261-5	Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.		190000	25627	2	2004	 We suggest that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of APOE4. Since 4% of Northern Europeans carry the two iron-related variants and since iron overload is a treatable condition, these results merit replication.	Case:191/69 cases with definite or probable AD (n=191) and with mild cognitive impairment (n=69) from the OPTIMA:cohort;Control:269 healthy elderly controls										
135901		Alzheimer's disease; chronic obstructive pulmonary disease/COPD	NEUROLOGICAL	NEUR		3	3q22.1	TF	134901900	134980325		Das, K.  et al. 2003	14523999				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Indian		CDC GDPinfo	7018	Hs.518267			Anthropol Anz. 2003 Sep;61(3):261-8	Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India		190000	26617	2	2003	The overall analysis showed that these polymorphisms are useful anthropological markers for micro-evolutionary and genetic structure studies.	Cohort three subpopulations (Bison Horn Maria of the Kuakonda and Tokapal Block, and Abuj Maria of the Abujmar Hills of the Orchha block) of the Maria Gond tribe Madhya Pradesh, India 										
135895	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Zhang, P.  et al. 2003	12951205				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Chinese	China	CDC GDPinfo	7018	Hs.518267			Neuroscience letters. 2003 Oct;349(3):209-11	Association study between late-onset Alzheimer's disease and the transferrin gene polymorphisms in Chinese.		190000	23612	2	2003	No synergic effects were found between the APOE varepsilon 4 allele and TF gene polymorphisms.	Control:131 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients										
135896	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Kim, K. W.  et al. 2001	11445282				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Korean	Korea	CDC GDPinfo	7018	Hs.518267			Neuroscience letters. 2001 Jul;308(1):45-8	Transferrin C2 variant does not confer a risk for Alzheimer's disease in Koreans.		190000	23613	2	2001	The TF C2 variant did not confer a risk for AD in Koreans.	Case:164 probable Alzheimer's disease (AD) patients:Korea;Control:239 cognitively normal elderly controls:Korea										
135897	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q22.1	TF	134901900	134980325		Zambenedetti, P.  et al. 2003	14757931				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Caucasian		CDC GDPinfo	7018	Hs.518267			J Alzheimers Dis    2003    5    423-7	Transferrin C2 variant does confer a risk for Alzheimer's disease in caucasians.		190000	23614	2	2003	These results suggest that apoE and transferrin may be part of a complex mechanism in the pathogenesis of Alzheimer's disease.	Case Alzheimer's disease patients;Control normal controls										
135898	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Kim, K. W.  et al. 2001	11725818				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	Korean	Korea	CDC GDPinfo	7018	Hs.518267			J Neural Transm. 2001 ;108(10):1159-66	Neither the butyrylcholinesterase K variant nor transferrin C2 variant confers a risk for Alzheimer's disease in Koreans.		190000	23615	2	2001	In conclusion, neither the BCHE K nor the TF C2 confers a risk for AD.	Case:164 sporadic Alzheimer's disease patients:Korea;Control:239 normal elderly controls										
135891	Y	aplastic anaemia	HEMATOLOGICAL	HEM	Anemia, Aplastic	5	5p15.33	TERT	1306286	1348162		Vulliamy T et al. 2002	12090986				Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2			KGB	7015	Hs.492203			Lancet. 2002 Jun;359(9324):2168-70	Association between aplastic anaemia and mutations in telomerase RNA.		187270	5763	1	2002												
135892		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	5	5p15.33	TERT	1306286	1348162		Yamaguchi, H.  et al. 2005	15814878				Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2			CDC GDPinfo	7015	Hs.492203			The New England journal of medicine. 2005 Apr;352(14):1413-24	Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.		187270	26616	2	2005	 Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.	Case:124/81 patients with apparent acquired aplastic anemia with an additional number examined for genetic variations in TERT (n=81);Control:282/246 control subjects and an additional number examined for genetic variations in TERT (n=246)										
135893	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Zhang P 2003	12951205				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2	chinese	China	KGB	7018	Hs.518267			Neuroscience letters. 2003 Oct;349(3):209-11	Association study between late-onset Alzheimer's disease and the transferrin gene polymorphisms in Chinese.		190000	5764	1	2003	No synergic effects were found between the APOE varepsilon 4 allele and TF gene polymorphisms.	Control:131 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients										
135894		anemia, iron deficiency	HEMATOLOGICAL	HEM	Anemia, Iron-Deficiency|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Lee, P. L.  et al. 2001	11703331				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDPinfo	7018	Hs.518267			British journal of haematology. 2001 Nov;115(2):329-33	Human transferrin G277S mutation: a risk factor foriron deficiency anaemia		190000	19801	2	2001	In menstruating white women, the G277S genotype was	Cohort menstruating Caucasian women 										
135887		omphalocele	DEVELOPMENTAL	DEV	Hernia, Umbilical	22	22q12.2	TCN2	29333160	29353047		Mills, J. L.  et al. 2005	15937947				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2		New York	CDC GDPinfo	6948	Hs.417948			American journal of medical genetics Part A. 2005 Jul;136(1):11-Aug	Folate-related genes and omphalocele.		275350	26615	2	2005	In this small study, the thermolabile variant of MTHFR, 677C --> T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.	Case:25 children with euploid omphalocele;Control:59 matched controls										
135888		Treacher Collins	DEVELOPMENTAL	DEV	Mandibulofacial Dysostosis|Syndrome	5	5q32-q33.1	TCOF1	149717427	149760064		Altug Teber, O.  et al. 2004	15340364				Treacher Collins-Franceschetti syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008656.1			CDC GDPinfo	6949	Hs.519672			European journal of human genetics. 2004 Nov;12(11):879-90	Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation		606847	19797	2	2004	Inter- and intrafamilial variation is wide. Some mutation carriers, parents of typically affected patients, are so mildly affected that the diagnosis might be overlooked clinically. This suggests that modifying factors are important for phenotypic _expression. Based on these findings, minimal	Cohort 46 patients with tentative diagnosis of Treacher Collins syndrome 										
135889		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Substance-Related Disorders	4	4q31-q32	TDO2	157044296	157061000		Comings DE et al. 1996	8873217			intron	Tryptophan 2,3-dioxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005651.1			KGB	6999	Hs.183671			Pharmacogenetics. 1996 Aug;6(4):307-18	Exon and intron variants in the human tryptophan 2 3-dioxygenase gene: potential association with Tourette syndrome substance abuse and other disorders.		191070	5761	1	1996												
135884	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	22	22q12.2	TCN2	29333160	29353047		Swanson, D. A.  et al. 2005	15782407				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Irish		CDC GDPinfo	6948	Hs.417948			Birth defects research Part A, Clinical and molecular teratology. 2005 Apr;73(4):239-44	Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population.		275350	14196	2	2005	 These six TCII polymorphisms do not strongly influence NTD risk in the Irish population. The Supplementary Material for this article can be found on the Birth Defects Research (Part A) website: http://www.mrw.interscience.wiley.com/suppmat/1542-0752/suppmat/2005/73/v73.4.swanson.html	Case Irish Families;Control;Irish Controls										
135885	N	kidney transplant complications	IMMUNE	IMM		22	22q12.2	TCN2	29333160	29353047		Winkelmayer, W. C.  et al. 2004	15086930				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDPinfo	6948	Hs.417948			Kidney international. 2004 May;65(5):1877-81	Effects of TCN2 776C>G on vitamin B, folate, and total homocysteine levels in kidney transplant patients.		275350	19795	2	2004	 We conclude from this largest study on the subject thus far that there are no associations between allelic variants of TCN2 776C>G and plasma vitamin B(12), folate, or total homocysteine plasma levels in kidney transplant patients.	Cohort 732 kidney allograft recipients 										
135886		pregnancy loss, second trimester	REPRODUCTION	REP		22	22q12.2	TCN2	29333160	29353047		Parle-McDermott, A.  et al. 2005	16051678				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDPinfo	6948	Hs.417948			Mol Hum Reprod    2005	A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.		275350	23610	2	2005												
135881	Y	homocysteine; vitamin B12; holotranscobalamin; methylmalonic acid	METABOLIC	MET	Vitamin B 12 Deficiency	22	22q11.2-qter	TCN2	29333160	29353047		Miller, J. W.  et al. 2002	12091374	775G->C (correction: 776C->G)		coding sequence	Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Primarily Caucasian		CDC GDPinfo	6948	Hs.417948			Blood. 2002 Jul;100(2):718-20	Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults.	1801198	275350	14193	2	2002	The PP genotype may be more efficient in delivering B12 to tissues, resulting in enhanced B12 functional status. TCII genotype may thus influence susceptibility to B12 deficiency.	Cohort 128 healthy older adults (ages (40-88 years) 										
135882	Y	spontaneous abortion	UNKNOWN	UNK	Abortion, Spontaneous|Genetic Predisposition to Disease	22	22q12.2	TCN2	29333160	29353047		Zetterberg, H.  et al. 2002	12456598	codon 259			Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDPinfo	6948	Hs.417948			Human reproduction (Oxford, England). 2002 Dec;17(12):3033-6	The transcobalamin codon 259 polymorphism influences the risk of human spontaneous abortion.		275350	14194	2	2002	 The 259-Pro allele seems to have beneficial influences during embryogenesis, conceivably through its positive effect on vitamin B(12) intracellular bioavailability. Our results warrant additional investigations addressing the question if vitamin B(12) supplementation in addition to folic acid supplementation may prevent spontaneous abortion in women planning a pregnancy.	Case DNA samples from embryos that had been spontaneously aborted between the 6th and 20th week after conceptioncotn;Control adult controls										
135883		omphalocele	DEVELOPMENTAL	DEV		22	22q12.2	TCN2	29333160	29353047		Bowen, R. A.  et al. 2004	14725943	Pro259Arg			Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDPinfo	6948	Hs.417948			Clinical biochemistry. 2004 Feb;37(2):128-33	Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism		275350	14195	2	2004	 Population-based differences in TC-II Pro259Arg frequency are significant and could be a contributor to ethnic variation in susceptibility to vitamin B(12) deficiency, a common and persistent problem.	Cohort 187/43/51 Caucasians (n=187) and Asians (n=43) from the Toronto area, and African-Americans (n=51) from Northeastern United States Toronto/Northeastern US 										
135877		hyperhomocysteinemia	METABOLIC	MET	Hyperhomocysteinemia|Folic Acid Deficiency|Vitamin B 12 Deficiency	11	11q11-q12	TCN1	59376859	59390594		Geisel, J.  et al. 2003	14656021				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Clinical chemistry and laboratory medicine. 2003 Nov;41(11):1427-34	The role of genetic factors in the development of hyperhomocysteinemia.		189905	26614	2	2003	In conclusion, the study on vegetarians and seniors documents interesting lifestyle-genotype interactions. Although the TC and COMT mutations influence cellular vitamin B12 metabolism, this effect did not result in overt homocysteine elevation.	Cohort 111/118 										
135878		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q11-q12	TCN1	59376859	59390594		Bosco, P.  et al. 2004	15201366				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2		Italy	CDC GDPinfo	6947	Hs.2012			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		189905	27847	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
135880	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	22	22q12.2	TCN2	29333160	29353047		McCaddon A 2004	14739547	TC 776C>G			Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			KGB	6948	Hs.417948			Dementia and geriatric cognitive disorders. 2004 ;17(3):215-21	Transcobalamin polymorphism and serum holo-transcobalamin in relation to Alzheimer's disease.		275350	5747	1	2004		Case:70; Control:76										
135873	Y	Down syndrome	DEVELOPMENTAL	DEV	Alzheimer Disease|Down Syndrome	11	11q11-q12	TCN1	59376859	59390594		Gueant, J. L.  et al. 2005	15834031				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Journal of neurology, neurosurgery, and psychiatry. 2005 May;76(5):706-9	Homocysteine and related genetic polymorphisms in Down's syndrome IQ.		189905	23608	2	2005	 This study found evidence of an association between t-Hcys and MTHFR 677 T and transcobalamin 776 G alleles with IQ in patients with DS. The association may be related to a defective remethylation of homocysteine, affecting IQ.	Cohort 131 patients with trisomy 21 from a specialist center Sicily, Italy 										
135875		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q11-q12	TCN1	59376859	59390594		Anello, G.  et al. 2004	15073531				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Neuroreport. 2004 Apr;15(5):859-61	Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease		189905	25626	2	2004	In conclusion, association of homocysteine with AD was aggravated by MTHFR 677 T and APOE epsilon4 alleles.	Case:180 Alzheimer's disease cases southern Italy;Control:181:controls										
135876		atherosclerosis, coronary; homocysteine	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q11-q12	TCN1	59376859	59390594		Gueant-Rodriguez, R. M.  et al. 2005	16268464				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2	French		CDC GDPinfo	6947	Hs.2012			Thrombosis and haemostasis. 2005 Sep;94(3):510-5	Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population.		189905	26613	2	2005												
135870		homocysteine	METABOLIC	MET	Vascular Diseases	11	11q11-q12	TCN1	59376859	59390594		Lievers, K. J.  et al. 2002	12194912				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Clinical chemistry. 2002 Sep;48(9):1383-9	Polymorphisms in the transcobalamin gene:association with plasma homocysteine in healthy individuals and vascular disease patients		189905	14188	2	2002	 In individuals in the highest quartile of the vitamin B(12) distribution (>299 pmol/L), tHcy concentrations are lower in 259PP homozygotes than in 259PR and 259RR individuals. Therefore, 259PP individuals, who represent >25% of the general population, may be more susceptible to reduction of plasma tHcy concentrations by increasing the vitamin B(12) status.	Case:190 vascular disease patients;Control:601:controls										
135871		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q11-q12	TCN1	59376859	59390594		McCaddon, A.  et al. 2004	14739547				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Dementia and geriatric cognitive disorders. 2004 ;17(3):215-21	Transcobalamin Polymorphism and Serum Holo-Transcobalamin in Relation to Alzheimer's Disease		189905	14190	2	2004	Proportionately fewer TC 776C homozygotes appear to develop AD at any given age, but this will require confirmation in a longitudinal study.	Control:107:controls;Case:70 patinets with clinically diagnosed Alzheimer's:disease;Control:74 healthy elderly controls;Case:94 histopathologically confirmed Alzheimer's disease:cases										
135872	Y	pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous	11	11q11-q12	TCN1	59376859	59390594		Zetterberg, H.  et al. 2003	12923155				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			Human reproduction (Oxford, England). 2003 Sep;18(9):1948-50	Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion		189905	23607	2	2003	 Embryos that have combined MTHFR 677TT and TC 776CG or 776GG genotypes; genotypes that individually are associated with impaired homocysteine metabolism in adults, are at increased risk for spontaneous abortion compared with embryos that have only one of these genotypes.	Control:114 control samples from healthy blood donors;Case:76 fetal tissue samples from spontaneous abortions										
135867	Y	bone mass	METABOLIC	MET		11	11q13.4-q13.5	TCIRG1	67563058	67574942		Sobacchi, C.  et al. 2003	14523594			promoter	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006019.2			CDC GDPinfo	10312	Hs.495985			Calcified tissue international. 2004 Jan;74(1):35-41	Association Between a Polymorphism Affecting an AP1 Binding Site in the Promoter of the TCIRG1 Gene and Bone Mass in Women		604592	14187	2	2003	We conclude that , in this relatively large population, allelic variation at the G-1102A site of TCIRG1 accounts for part of the heritable component of BMD in Scottish women, possibly by affecting peak bone mass.	Cohort 739 perimenopausal women 										
135868		osteoporosis	METABOLIC	MET	Osteopetrosis	11	11q13.4-q13.5	TCIRG1	67563058	67574942		Frattini, A.  et al. 2003	14584882				T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006019.2			CDC GDPinfo	10312	Hs.495985			Journal of bone and mineral research. 2003 Oct;18(10):1740-7	Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.		604592	23606	2	2003	 In 56 of 94 patients with a classical picture of ARO, TCIRG1-dependent recessive mutations were found. In contrast, ClCN7 mutations were found in 12 cases (13%) of severe osteopetrosis, but only 7 of them had two recessive mutations identified: in 6 of these 7 cases, central nervous system manifestations were noted, and these patients had a poor prognosis. The remaining five cases were heterozygous for a ClCN7 mutation, including two brothers from a large family with a history of ADO-II in which the presence of a second ClCN7 mutation was formally excluded. Despite an early and severe clinical presentation, these five patients all reached adulthood, suggesting that the degree of dominant interference with chloride channel function can vary widely. Our findings suggest that recessive ClCN7-dependent ARO may be associated with CNS involvement and have a very poor prognosis, whereas heterozygous ClCN7 mutations cause a wide range of phenotypes even in the same family, ranging from early severe to nearly asymptomatic forms. These findings have prognostic implications, might complicate prenatal diagnosis of human osteopetroses, and could be relevant to the management of these patients.	Cohort 94 patients in which a diagnosis of severe osteopetrosis was made within the first 2 years of age 										
135869		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	11	11q11-q12	TCN1	59376859	59390594		Gueant-Rodriguez RM 2003	12812837				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			KGB	6947	Hs.2012			Neuroscience letters. 2003 Jul;344(3):189-92	Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.		189905	5745	1	2003												
135864		diabetes, type 2; beta-cell function	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Ek, J.  et al. 2001	11668623				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Danish	Netherlands	CDC GDPinfo	6928	Hs.191144			Human mutation. 2001 Oct;18(4):356-7	Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function		189907	23605	2	2001	In conclusion, mutations in HNF-1beta and DCoH are not a major cause of MODY or late onset type 2 diabetes in Danish Caucasian subjects.	Cohort 11 MODY probands ;Control:229 glucose tolerant middle-aged control subjects:Cohort:28 type 2 diabetic patients with nephropathy;Control:302 glucose tolerant 60-year-old Danish Caucasians:Cohort:46 type 2 diabetic patients with an impaired beta-cell:function;Case:584 type 2 diabetic patients										
135865	N	schizophrenia	PSYCH	PSY	Ataxia	18	18q21.1	TCF4	51045966	51454183		McInnis MG et al. 2000	10889556	CTG18			transcription factor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR933675	caucasian		KGB	6925	Hs.200285			Molecular psychiatry. 2000 Jul;5(4):439-42	Allelic distribution of CTG18.1 in Caucasian populations: association studies in bipolar disorder schizophrenia and ataxia.		602272	5728	1	2000												
135866	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1	TCF7	133478300	133511819		Noble JA et al. 2003	12765974				Transcription factor 7 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003202.2		California	Y Wang	6932	Hs.573153			Diabetes. 2003 Jun;52(6):1579-82	A polymorphism in the TCF7 gene, C883A, is associated with type 1 diabetes.		189908	5743	1	2003												
135861	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17cen-q21.3	TCF2	33120546	33179182		Babaya, N.  et al. 2001	11716293				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Japanese	Japan	CDC GDPinfo	6928	Hs.191144			Diabetes, nutrition & metabolism. 2001 Aug;14(4):220-4	Lack of association between hepatocyte nuclear factor-1beta gene and common forms of type 2 diabetes in the Japanese population		189907	19792	2	2001	These results suggest that mutations in the HNF-1beta gene derived from a limited number of founders are not a major cause of common forms of Type 2 diabetes, even in the genetically homogeneous Japanese population.	Case patients with Type 2 diabetes:Japan;Control control subjects not otherwise specified in:abstract										
135862		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Furuta, H.  et al. 2002	12161522				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Japanese	Japan	CDC GDPinfo	6928	Hs.191144			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):3859-63	Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.		189907	19793	2	2002	The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5.	Case:126 unrelated Japanese patients with type 2 diabetes and a family history of at least one first degree relative with diabetes;Control:132 nondiabetic subjects										
135863		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Bellanne-Chantelot, C.  et al. 2005	16249435				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1			CDC GDPinfo	6928	Hs.191144			Diabetes. 2005 Nov;54(11):3126-32	Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1{beta} (TCF2) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5.		189907	19794	2	2005												
135858	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17cen-q21.3	TCF2	33120546	33179182	n	Babaya N et al. 2001	11716293				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Japanese	Japan	KGB	6928	Hs.191144			Diabetes, nutrition & metabolism. 2001 Aug;14(4):220-4	Lack of association between hepatocyte nuclear factor-1beta gene and common forms of type 2 diabetes in the Japanese population.		189907	5741	1	2001	These results suggest that mutations in the HNF-1beta gene derived from a limited number of founders are not a major cause of common forms of Type 2 diabetes, even in the genetically homogeneous Japanese population.	Case patients with Type 2 diabetes:Japan;Control control subjects not otherwise specified in:abstract										
135859	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Chevre JC 1998	9754819				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1			Y Wang	6928	Hs.191144	MODY		Diabetologia. 1998 Sep;41(9):1017-23	Mutation screening in 18 Caucasian families suggest the existence of other MODY genes		189907	5742	1	1998												
135860	N	renal disease, end stage	UNKNOWN	UNK	Diabetic Neuropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Iwasaki, N.  et al. 2001	11206404				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Japanese	Japan	CDC GDPinfo	6928	Hs.191144			Diabetologia. 2001 Jan;44(1):127-8	Mutations in the hepatocyte nuclear factor-1beta (MODY5) gene are not a major factor contributing to end-stage renal disease in Japanese people with diabetes mellitus		189907	19790	2	2001	Our study suggests that mutations in the HNF-1beta gene are not a major factor contributing to the development of end-stage renal disease in Japanese diabetic subjects.	Case:54 unrelated diabetic patients with end stage renal:disease										
135855		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Aguilera, E.  et al. 2005	15660729				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetic medicine. 2005 Feb;22(2):137-43	Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.		142410	27239	2	2005	In a non-paediatric population with newly diagnosed T1D, the absence of islet antibodies does not imply clinical or metabolic differences when compared with those cases with islet antibodies. Despite a similar HLA-DR/DQ typing, the presence of protective alleles and molecular properties in a higher proportion in the Ab neg group suggests that these factors could modulate the presence or absence of islet antibodies. Variants in HNF-1alpha and HNF-4alpha are unlikely to be major contributors to the pathogenesis of diabetes in antibody-negative T1D.	Control:20 diabetic patients without pancreatic autoantibodies;Case:20 diabetic patients with pancreatic autoantibodies										
135856		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Pollex, R. L.  et al. 2005	16276364				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Canadian		CDC GDPinfo	6927	Hs.567343			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		142410	27634	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
135857	N	Psoriasis Vulgaris	IMMUNE	IMM	Psoriasis	6	6p21.3	TCF19	31234281	31239971	n	Teraoka Y 2000	10777095	Three single nucleotide polymorphisms in exon 2			transcription factor 19 (SC1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC033086			KGB	6941	Hs.584807			Tissue antigens. 2000 Mar;55(3):206-11			600912	8122	1	2000												
135852		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Disease Progression	12	12q22-qter	TCF1	119900931	119924697		Laukkanen, O.  et al. 2005	15983230				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Finland	CDC GDPinfo	6927	Hs.567343			Diabetes. 2005 Jul;54(7):2256-60	Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the FinnishDiabetes Prevention Study.		142410	25625	2	2005	We conclude that  the SNPs of SLC2A2 predict the conversion to diabetes in obese subjects with IGT.											
135853		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Glucose Intolerance	12	12q22-qter	TCF1	119900931	119924697		Weng, J.  et al. 2002	11772903				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Swedish	Sweden	CDC GDPinfo	6927	Hs.567343			Diabetes care. 2002 Jan;25(1):68-71	Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.		142410	26611	2	2002	 MODY mutations but not autoimmunity contribute to GDM in Swedish women with a family history of diabetes and increase the risk of subsequent diabetes.	Case:66 Swedish women with gestational diabetes mellitus:Sweden;Control:82 type 2 diabetic patients;Control:86 healthy controls										
135854		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697			16367885				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetes, obesity & metabolism. 2006 Jan;8(1):75-82	IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do aminoacid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?		142410	26612	2	2006	 The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk. This same finding has been reported in patients with T2DM.											
135849		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Pearson, E. R.  et al. 2005	15830177				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Europe	CDC GDPinfo	6927	Hs.567343			Diabetologia. 2005 May;48(5):878-85	Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.		142410	23604	2	2005	HNF-4alpha mutations are common when no HNF-1alpha mutation is found in strictly defined MODY families. The HNF-4alpha clinical phenotype and beta cell dysfunction are similar to HNF-1alpha MODY and are associated with reduced apolipoprotein A2 levels. We suggest that sequencing of HNF-4alpha should be performed in patients with clinical characteristics of HNF-1alpha MODY in whom mutations in HNF-1alpha are not found.	Control:32/54 familial controls (n=32) and HNF-4alpha mutation:carriers (n=54);Case:48 MODY probands, selected for a phenotype of HNF-1alpha MODY but negative for HNF-1alpha:mutations										
135850		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q22-qter	TCF1	119900931	119924697		Aguilera, E.  et al. 2003	12605834				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Med Clin (Barc). 2003 Feb;120(4):121-4	[Clinical, metabolic, immunologic and genotypic characteristics in non-pediatric patients with type 1A diabetes mellitus. Onset and short-term prognosis]		142410	25623	2	2003	 Clinical, immunological and HLA characteristics of a non-pediatric DM1 population are in agreement with expected results. The absence of pancreatic autoimmune markers neither rules out the existence of type 1A diabetes mellitus nor is associated with mutations in the MODY-3 gene. A therapeutic programme using conventional intensified insulin treatment prevents the impairment of insulin secretory capacity for a short-term follow-up.	Cohort 86 subjects with an age >= 15 and 35 years recently diagnosed with type 1 diabetes 1998-2001 										
135846		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Weedon, M. N.  et al. 2005	16046319				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	U.K. population	Great Britain	CDC GDPinfo	6927	Hs.567343			Diabetes. 2005 Aug;54(8):2487-91	A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population.		142410	19786	2	2005												
135847		diabetes, type 2; glucose tolerance; metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Metabolic Syndrome X	12	12q22-qter	TCF1	119900931	119924697		Pollex, R. L.  et al. 2005	16241915				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Canada	CDC GDPinfo	6927	Hs.567343			Diabetic medicine. 2005 Nov;22(11):1510-5	Synergism between mutant HNF1A and the metabolic syndrome in Oji-Cree Type 2 diabetes.		142410	19787	2	2005	 The risk of Type 2 diabetes was similar (approximately five-fold increased) for subjects with either the presence of the modified metabolic syndrome or the private HNF1A G319S mutation. Interestingly, when present in combination, the two independent risk factors appeared to act synergistically to confer an even greater increased risk of Type 2 diabetes.											
135848		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Boutin, P.  et al. 2001	11440371				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetologia. 2001 Jun;44(6):775-8	Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are thetechniques of DHPLC and direct sequencing used in combination?		142410	23603	2	2001	Our results suggest that combining denaturing high-performance liquid chromatography and direct sequencing is a good approach for the routine detection of HNF-1alpha and GCK mutations in MODY families. Denaturing high-performance liquid chromatography appears to be a powerful tool in genetic testing and the method could be applied to the molecular diagnosis of other human genetic diseases.											
135843		nephropathy in other diseases; diabetes	RENAL	REN	Diabetes Mellitus	12	12q22-qter	TCF1	119900931	119924697		Wang, C.  et al. 2004	15660195				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Chinese		CDC GDPinfo	6927	Hs.567343			Acta diabetologica. 2004 Dec;41(4):137-45	Scanning for MODY5 gene mutations in Chinese early onset or multiple affected diabetes pedigrees.		142410	19783	2	2004	These results suggest that HNF-1beta gene mutations may be associated with nondiabetic renal dysfunction and diabetes in Chinese, but they are responsible for only a small percentage of early onset or multiple affected diabetes pedigrees including MODY.	Cohort 154 unrelated probands from early onset and multiple affected diabetes Chinese pedigrees Cohort 58 nondiabetics 										
135844		kidney disease	RENAL	REN	Kidney Diseases	12	12q22-qter	TCF1	119900931	119924697		Edghill, E. L.  et al. 2005	15930087				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Journal of medical genetics. 2006 Jan;43(1):84-90	Mutations in hepatocyte nuclear factor-1{beta} and their related phenotypes.		142410	19784	2	2005	 We report the largest series to date of HNF-1beta mutations and confirm HNF-1beta mutations as an important cause of renal disease. Despite the original description of HNF-1beta as a MODY gene, a personal/family history of diabetes is often absent and the most common clinical manifestation is renal cysts. Molecular genetic testing for HNF-1beta mutations should be considered in patients with unexplained renal cysts (including GCKD), especially when associated with diabetes, early-onset gout, or uterine abnormalities.	Cohort 160 unrelated subjects with renal disease 										
135845	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Winckler, W.  et al. 2005	16046299				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetes. 2005 Aug;54(8):2336-42	Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.		142410	19785	2	2005												
135840		diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		So, W. Y.  et al. 2003	14583183				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Chinese		CDC GDPinfo	6927	Hs.567343			Journal of diabetes and its complications. 2003 Nov-Dec;17(6):369-73	Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.		142410	19779	2	2003	These results suggest genetic variants in HNF-1beta are not a common cause of young-onset diabetes or diabetic nephropathy in Chinese, but may modify disease manifestation and progression. Other potential candidate genes should be looked for to account for the high prevalence of young-onset diabetes and nephropathy in this population.	Cohort 74 unrelated Chinese subjects with young-onset diabetes complicated by nephropathy Hong Kong 										
135841		amino acid disorder	UNKNOWN	UNK	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Stride, A.  et al. 2004	15270800				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetic medicine. 2004 Aug;21(8):928-30	Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.		142410	19780	2	2004	 The alterations in serum amino acid levels seen in mice models are not seen in patients with mutations in the HNF-1alpha gene. This suggests differences in mouse and man in the regulation of amino acid transport and has not provided us with a phenotypic marker to use before confirmatory genetic testing.	Control:20 age, sex and body mass index-matched controls;Case:20 aminoaciduria patients with HNF-1alpha mutations										
135842	N	diabetes, type 2	METABOLIC	MET		12	12q22-qter	TCF1	119900931	119924697		Fang, Q.  et al. 2004	15300627				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Chinese		CDC GDPinfo	6927	Hs.567343			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):329-34	[Scanning HNF-1 alpha gene mutation in Chinese early-onset and/or multiplex diabetes pedigrees]		142410	19782	2	2004	 HNF-1 alpha gene is not a major cause of early-onset or multiplex diabetes pedigrees in this Chinese population in Shanghai.	Case:154 Chinese probands of early-onset and/or multiplex diabetes pedigrees:Shanghai;Control:93 healthy controls										
135837		diabetes	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Body Weight	12	12q22-qter	TCF1	119900931	119924697		Tonooka, N.  et al. 2002	12488961				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Japanese	Japan	CDC GDPinfo	6927	Hs.567343			Diabetologia. 2002 Dec;45(12):1709-12	High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.		142410	19775	2	2002	A considerable number of non-obese Japanese patients with non-Type 1 diabetes of youth have HNF-1alpha-deficient diabetes. Lack of obesity could well be a characteristic feature of this form of diabetes.	Cohort 203 Japanese patients with non-Type 1 diabetes who had been diagnosed before they reached 15 years of age 	body mass									
135838	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	12	12q22-qter	TCF1	119900931	119924697		Hegele, R. A.  et al. 2003	12726923				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Canada	CDC GDPinfo	6927	Hs.567343			Clinical biochemistry. 2003 May;36(3):163-70	Genes, environment and Oji-Cree type 2 diabetes.		142410	19777	2	2003	G319S was associated with increased odds of having type 2 diabetes across the whole study sample and in all subgroups, including adolescent Oji_Cree.	Cohort Oji-Cree Indians Canada 										
135839	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Deng, H.  et al. 2003	12934344				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Chinese		CDC GDPinfo	6927	Hs.567343			Hunan yi ke da xue xue bao. 2003 Apr;28(2):93-4	[Relationship between Ala98Val variant of hepatocyte nuclear factor-1 alpha gene and late-onset type 2 diabetes in Han nationality]		142410	19778	2	2003	 The Ala98Val variant doesn't play an important role in late-onset Type 2 diabetes in Chinese Han nationality.	Case:150 Chinese Han patients with late-onset Type 2:diabetes;Control:155:controls										
135834		diabetes, NOS	METABOLIC	MET	Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Collet, C.  et al. 2002	11938027				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Senegalese	Africa|France	CDC GDPinfo	6927	Hs.567343			Diabetes & metabolism. 2002 Feb;28(1):39-44	Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes.		142410	19772	2	2002	 The HNF-1alpha Gly574Ser mutation was found in 16% of cases in a 69 diabetic patients group in Senegal. Diabetes was as severe as in non carriers of mutation. This mutation has been implicated in atypical diabetes of Afro-American children. The study confirms its prevalence in Africans with diabetes.	Cohort 69 diabetic subjects Dakar, Senegal 1998 										
135835		diabetes, type 2; nephropathy, diabetic	UNKNOWN	UNK	Diabetic Neuropathies|Diabetic Nephropathies|Kidney Failure, Chronic|Albuminuria|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Selisko, T.  et al. 2002	12012276			intron	Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Czech	Czech Republic|Germany	CDC GDPinfo	6927	Hs.567343			Experimental and clinical endocrinology & diabetes. 2002 May;110(3):145-7	Mutations and intronic variants in the HNF-1 beta gene in a group of German and Czech Caucasians with type 2 diabetes mellitus and progressive diabetic nephropathy.		142410	19773	2	2002	The results confirm that the genetic variations in the HNF-1 beta gene would be a very uncommon cause of progressive nephropathy in patients with type 2 diabetes mellitus.	Cohort 63 patients from two different European populations (33 Germans, 30 Czechs) with type 2 diabetes mellitus and diabetic nephropathy or end-state renal failure 										
135831	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Anuradha, S.  et al. 2005	16186275	Ala/Val98			Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Indian	India	CDC GDPinfo	6927	Hs.567343			Diabetes care. 2005 Oct;28(10):2430-5	A prevalent amino acid polymorphism at codon 98 (Ala98Val) of the hepatocyte nuclear factor-1alpha is associated with maturity-onset diabetes of the young and younger age at onset of type 2 diabetes in Asian Indians.		142410	14186	2	2005	 Among Asian Indians, the Ala98Val polymorphism of HNF1alpha gene is associated with MODY and with earlier age at onset of type 2 diabetes.											
135832	Y	aminoaciduria; glucosuria	UNKNOWN	UNK	Diabetic Nephropathies|Kidney Failure, Chronic|Glycosuria|Proteinuria|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Bingham, C.  et al. 2001	11522670				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Diabetes. 2001 Sep;50(9):2047-52	The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.		142410	19770	2	2001	In conclusion, HNF-1alpha mutation carriers have a mutation-specific defect of proximal tubular glucose transport, resulting in increased glucosuria. In contrast, the generalized aminoaciduria seen in patients with HNF-1alpha mutations is a general feature of patients with diabetes and glucosuria. Glucose may depolarize and dissipate the electrical gradient of the sodium-dependent amino acid transporters in the proximal renal tubule, causing a reduction in amino acid resorption.	Case patients with diabetes and chronic renal failure;Case type 1 diabetic patients;Case type 2 diabetic patients;Control nondiabetic age-matched control subjects										
135833		diabetes, type 2; MODY	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Lee, H. J.  et al. 2001	11827432				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			Acta diabetologica. 2001 ;38(3):123-7	Mutation in hepatocyte nuclear factor-1alpha is not a common cause of MODY and early-onset type 2 diabetes in Korea.		142410	19771	2	2001	We concluded that this genetic mutation in HNF-1alpha gene may not be a common contributor to MODY and early-onset type 2 diabetes susceptibility in Korea.	Control:35 healthy persons;Case:69 Korean early-onset type 2 diabetics:Korea										
135828	N	diabetes	METABOLIC	MET	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1	12	12q22-qter	TCF1	119900931	119924697		Mauvais-Jarvis, F.  et al. 2003	12743700	Gly574Ser			Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Africa|Caribbean Region	CDC GDPinfo	6927	Hs.567343			Diabetologia. 2003 May;46(5):728-9	The polymorphism Gly574Ser in the transcription factor HNF-1alpha is not a marker of adult-onset ketosis-prone atypical diabetes in Afro-Caribbean patients.		142410	14183	2	2003	In conclusion, we gathered a cohort of 80 patients with the pure clinical phenotype of ketosis-prone atypical diabetes (KPAD). The Gly574Ser polymorphism of the HNF-1 alpha gene does not seem associated with this form of diabetes. Further genetic studies are needed to determine the involvement of transcrition factors or other candidate genes in the beta-cell dysfunction of KPAD.	Control normal glycemic controls;Case:80 unrelated black Afro-Caribbean diabetic patients										
135829	Y	cholesterol, HDL	METABOLIC	MET		12	12q22-qter	TCF1	119900931	119924697		Babaya, N.  et al. 2003	12788852	I27L			Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDPinfo	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2548-51	Association of I27L polymorphism of hepatocyte nuclear factor-1 alpha gene with high-density lipoprotein cholesterol level.		142410	14184	2	2003	These results demonstrate that the HNF-1alpha gene locus is associated with serum HDL-c level and suggest that the Ile27 allele is a risk marker for atherosclerosis.	Cohort 356 unrelated Japanese men 										
135830	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	12	12q22-qter	TCF1	119900931	119924697		Lauenborg, J.  et al. 2004	15569134	Ala/Val98			Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Danish		CDC GDPinfo	6927	Hs.567343			Diabetic medicine. 2004 Dec;21(12):1310-5	Studies of the Ala/Val98 polymorphism of the hepatocyte nuclear factor-1alpha gene and the relationship to beta-cell function during an OGTT in glucose-tolerant women with and without previous gestational diabetes mellitus.		142410	14185	2	2004	 The Ala/Val polymorphism at codon98 of HNF-1alpha is not associated with GDM in Danish women. However, the codon 98 variant is associated with a significant impairment of serum insulin and C-peptide responses during an OGTT in glucose-tolerant women without previous GDM.	Case:376 women of Danish origin with previous gestational:diabetes;Control:724/310 age-matched (n=724) and middle-aged (n=310) glucose tolerant women										
135825	N	MODY3 (Mature Onset Diabetes of the young	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	HNF1A	119900931	119924697	n	Babaya N 1998	9840451	G191D mutation			transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545	Japanese	Japan	KGB	6927	Hs.567343			Acta diabetologica. 1998 Oct;35(3):150-3			142410	5738	1	1998												
135826	Y	high-density lipoprotein cholesterol level.	METABOLIC	MET		12	12q22-qter	HNF1A	119900931	119924697		Babaya N et al. 2003	12788852				transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545			KGB	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2548-51	Association of I27L polymorphism of hepatocyte nuclear factor-1 alpha gene with high-density lipoprotein cholesterol level.		142410	5739	1	2003												
135827		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	HNF1A	119900931	119924697		Hegele RA et al. 2000	10807546				transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545		Ontario	KGB	6927	Hs.567343			Journal of human genetics. 2000 ;45(3):184-7	Disparity between association and linkage analysis for HNF1A G319S in type 2 diabetes in Canadian Oji-Cree.		142410	5740	1	2000												
135821		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q22-qter	TCF1	119900931	119924697		Kawasaki E 2004	10634407				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Japanese	Japan	Y Wang	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 2000 Jan;85(1):331-5	Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes.		142410	5734	1	2004												
135823		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Chevre JC 1998	9754819				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			Y Wang	6927	Hs.567343	MODY		Diabetologia. 1998 Sep;41(9):1017-23	Mutation screening in 18 Caucasian families suggest the existence of other MODY genes		142410	5736	1	1998												
135824		diabetes	METABOLIC	MET	Adenoma|Liver Neoplasms|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Reznik Y 2004	15001650				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			KGB	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 2004 Mar;89(3):1476-80	Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.		142410	5737	1	2004												
135817	Y	insulin resistance	METABOLIC	MET	Insulin Resistance	12	12q22-qter	TCF1	119900931	119924697		Chiu KC et al. 2000	10852449				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			KGB	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 2000 Jun;85(6):2178-83	The I27L amino acid polymorphism of hepatic nuclear factor-1alpha is associated with insulin resistance.		142410	5730	1	2000	We conclude that  the I27L polymorphism is associated with insulin resistance, but not beta-cell function. The mechanism of this association is unclear, but HNF-1alpha may play a role in regulating hepatic glucose metabolism.											
135818	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Hegele RA et al. 1999	10084598				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Canada	KGB	6927	Hs.567343			The Journal of clinical endocrinology and metabolism. 1999 Mar;84(3):1077-82	The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree.		142410	5731	1	1999												
135820		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Glucksmann MA 1997	9166684				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			Y Wang	6927	Hs.567343			Diabetes. 1997 Jun;46(6):1081-6	Novel mutations and a mutational hotspot in the MODY3 gene.		142410	5733	1	1997												
135814	Y	radiation, ionizing, sensitivity to	CANCER	CAN	Breast Neoplasms|Radiodermatitis|Genetic Predisposition to Disease	X	Xq22.1	TCEAL1	102770303	102772532		Tan, X. L.  et al. 2005	16331344				Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2			CDC GDPinfo	9338	Hs.95243			Breast cancer research and treatment. 2005	Association between TP53 and p21 genetic polymorphisms and acute side effects of radiotherapy in breast cancer patients		300237	14456	2	2005												
135815		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	X	Xq22.1	TCEAL1	102770303	102772532			16364249				Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2			CDC GDPinfo	9338	Hs.95243			Biochemical and biophysical research communications. 2006 Feb;340(1):256-62	TP53 and P21 polymorphisms: Response tocisplatinum/paclitaxel-based chemotherapy in ovarian cancer		300237	14458	2	2005			cisplatin paclitaxel									
135816	Y	reduced serum C-peptide and insulin responses to an oral glucose challenge	OTHER	OTH		12	12q22-qter	TCF1	119900931	119924697		Urhammer SA et al. 1997	9133564				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			KGB	6927	Hs.567343			Diabetes. 1997 May;46(5):912-6	A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge.		142410	5729	1	1997												
135810		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic	17	17q12	TCAP	35075124	35076333		Hayashi, T.  et al. 2004	15582318				Titin-cap (telethonin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003673.2		Korea	CDC GDPinfo	8557	Hs.514146			Journal of the American College of Cardiology. 2004 Dec;44(11):2192-201	Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.		604488	19768	2	2004	 These observations suggest that the difference in clinical phenotype (HCM or DCM) may be correlated with the property of altered binding among the Z-disc components.	Cohort 346/136 patients with hypertropic cardiomyopathy (n=346, 236 familial and 110 sporadic cases) and patients with dilated cardiomyopathy (n=136, 34 familial and 102 sporadic cases) 										
135811		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	X	Xq22.1	TCEAL1	102770303	102772532		Roh, J.  et al. 2001	11248419	codon 31			Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2	Korean	Korea	CDC GDPinfo	9338	Hs.95243			Cancer letters. 2001 Apr;165(1):59-62	Polymorphisms in codon 31 of p21 and cervical cancer susceptibility in Korean women.		300237	14181	2	2001	We found that the codon 31 Ser/Ser homozygote of the p21 gene could be a risk factor for the development of cervical adenocarcinoma associated with high-risk HPV.	Case:101 patients with cervical intraepithelial neoplasia;Case:111 patients with invasive cervical cancer;Control:98 non-cancer controls										
135812	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	X	Xq22.1	TCEAL1	102770303	102772532		Ressiniotis, T.  et al. 2005	15807891	codon 31			Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2			CDC GDPinfo	9338	Hs.95243			BMC ophthalmology [electronic resource]. 2005 ;5(1):5	A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians.		300237	14182	2	2005	 This study suggests that the p21 codon 31 polymorphism does not contribute to the risk of POAG in the Caucasian population.	Case:140 Caucasian primary open-angle glaucoma patinets;Control:73 healthy individuals										
135807	Y	asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658		Kim, S. H.  et al. 2005	15898979				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1			CDC GDPinfo	6915	Hs.442530			Clinical and experimental allergy. 2005 May;35(5):585-90	Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma.		188070	14180	2	2005	 These results suggest that the polymorphism of TBXA2R+795T>C may increase bronchoconstrictive response to ASA, which could contribute to the development of the AIA phenotype.	Control:118 normal controls;Case:172 patients with acetyl salicylic acid-tolerant asthma (n=172) and with acetyl salicylic acid-intolerant:asthma (n=93)										
135808	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	19	19p13.3	TBXA2R	3545503	3557658		Hong, S. J.  et al. 2005	15805995				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Korean	Korea	CDC GDPinfo	6915	Hs.442530			The Journal of allergy and clinical immunology. 2005 Apr;115(4):758-63	IL-5 and thromboxane A2 receptor gene polymorphisms are associated with decreased pulmonary function in Korean children with atopic asthma.		188070	23602	2	2005	 The current study indicates that IL-5 (T-746C) and TBXA2R (T924C) polymorphisms alone are associated with spirometric markers of asthma severity, whereas they are not associated with presence of asthma per se. In addition, the data suggest that an interaction between IL-5 and TBXA2R genes may contribute to the severity of asthma, especially atopic asthma. These results suggest that IL-5 and TBXA2R genes may be disease-modifying genes in Korean children with atopic asthma.	Control:106 nonatopic healthy children;Case:240/70 Korean atopic children with asthma (n=240) and nonatopic children with asthma (n=70)										
135809	Y	dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	19	19p13.3	TBXA2R	3545503	3557658		Tanaka, K.  et al. 2002	11922633				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1		Japan	CDC GDPinfo	6915	Hs.442530			Biochemical and biophysical research communications. 2002 Apr;292(3):776-80	Genetic variants of the receptors for thromboxane A2 and IL-4 in atopic dermatitis.		188070	25622	2	2002	These results suggest TXA2 receptor polymorphism strongly interacts with IL-4Ralpha polymorphism as a major determinant of high serum immunoglobulin E levels in AD.	Cohort 789 individuals in a Japanese population 										
135804	N	Asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658	n	Unoki M 2000	10830912	G179T			Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Japanese	Japan	KCB	6915	Hs.442530			Human genetics. 2000 Apr;106(4):440-6			188070	5726	1	2000												
135805	Y	asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658		Leung TF et al. 2002	12000493			other	thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Chinese		T. F. Leung	6915	Hs.442530			Pediatric allergy and immunology. 2002 Feb;13(1):7-Oct	Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children		188070	5727	1	2002	In conclusion, our results suggest that the T924C marker in the TBXA2R gene is associated, in Chinese children, with an increased susceptibility of developing atopic asthma. This marker is also associated with the extent of allergic sensitization to cat, as well as with reduced FEV1 and FVC values.	Case:153 Chinese asthmatic children of mean age 9.9;Control:57 control children of mean age 11.0										
135806	Y	asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658		Leung, T. F.  et al. 2002	12000493				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Chinese		CDC GDPinfo	6915	Hs.442530			Pediatric allergy and immunology. 2002 Feb;13(1):7-Oct	Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children.		188070	14178	2	2002	In conclusion, our results suggest that the T924C marker in the TBXA2R gene is associated, in Chinese children, with an increased susceptibility of developing atopic asthma. This marker is also associated with the extent of allergic sensitization to cat, as well as with reduced FEV1 and FVC values.	Case:153 Chinese asthmatic children of mean age 9.9;Control:57 control children of mean age 11.0										
135800		asthma	IMMUNE	IMM	Asthma	17	17q21.32	TBX21	43165608	43178484		Tantisira, K. G.  et al. 2004	15604153				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			CDC GDPinfo	30009	Hs.272409			Proceedings of the National Academy of Sciences of the United States of America. 2004 Dec;101(52):18099-104	TBX21: a functional variant predicts improvement inasthma with the use of inhaled corticosteroids.		604895	19766	2	2004	TBX21 may thus be an important determinant pharmacogenetic response to the therapy of asthma with inhaled corticosteroids.	Cohort asthmatic children from a large clinical trial 	corticosteroids									
135801		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	X	Xq21.1	TBX22	79156910	79173924		Ichikawa, E.  et al. 2005	16247549				T-box 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016954.2	Japanese		CDC GDPinfo	50945	Hs.374253			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		300307	27633	2	2005												
135802	N	Asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658	n	Unoki M 2000	10830912	C795T			Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Japanese	Japan	KCB	6915	Hs.442530			Human genetics. 2000 Apr;106(4):440-6			188070	5724	1	2000												
135803		Asthma	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658		Unoki 2000	10830912	T924C			Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1	Japanese	Japan	KCB	6915	Hs.442530			Human genetics. 2000 Apr;106(4):440-6			188070	5725	1	2000												
135796		asthma	IMMUNE	IMM	Asthma	17	17q21.32	TBX21	43165608	43178484		Ylikoski, E.  et al. 2004	15248849				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1	Finnish	Finland	CDC GDPinfo	30009	Hs.272409			Clinical and experimental allergy. 2004 Jul;34(7):1049-55	Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families.		604895	14175	2	2004	 The genetic variability in the T-bet gene does not play a role in the pathogenesis of human asthma. Our results provide a novel panel of SNPs in T-bet and will help determine whether the SNPs have a functional role in other T cell-mediated diseases.	Cohort 23 Finnish individuals from an asthmatic founder population 										
135798	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	17	17q21.32	TBX21	43165608	43178484		Raby, B. A.  et al. 2005	16179640				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			CDC GDPinfo	30009	Hs.272409			American journal of respiratory and critical care medicine. 2006 Jan;173(1):64-70	T-Bet Polymorphisms are Associated with Asthma and Airway Hyperresponsiveness.		604895	14177	2	2005	These data suggest that T-bet variation contributes to airway responsiveness in asthma.											
135799	N	asthma	IMMUNE	IMM	Asthma	17	17q21.32	TBX21	43165608	43178484		Chung, H. T.  et al. 2003	12938094				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			CDC GDPinfo	30009	Hs.272409			Human mutation. 2003 Sep;22(3):257	Association analysis of novel TBX21 variants with asthma phenotypes		604895	19765	2	2003	In conclusion, we identified twenty-three genetic polymorphisms in the important TBX21 gene, but no significant associations of TBX21 variants with asthma phenotypes were detected. TBX21 variation/haplotype information identified in this study will provide valuable information for future association studies of other immunological diseases.	Cohort 721 individuals 										
135792	N	DiGeorge syndrome	DEVELOPMENTAL	DEV	Heart Defects, Congenital	22	22q11.21	TBX1	18124225	18151112		Voelckel, M. A.  et al. 2004	15337468				T-box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080646.1			CDC GDPinfo	6899	Hs.173984			Ann Genet. 2004 Jul-Sep;47(3):235-40	Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion		602054	19764	2	2004	The results indicate that mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients.	Cohort 39 deleted patients with and without congenital heart defects 										
135793		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	11	11q13.2	TBX10	67155349	67163607		Ichikawa, E.  et al. 2005	16247549				T-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005995.2	Japanese		CDC GDPinfo	347853	Hs.454480			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		604648	27238	2	2005												
135794		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	11	11q13.2	TBX10	67155349	67163607			16327884				T-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005995.2			CDC GDPinfo	347853	Hs.454480			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		604648	28196	2	2005												
135795	N	asthma phenotypes	IMMUNE	IMM	Asthma	17	17q21.32	TBX21	43165608	43178484		Chung HT 2003	12938094				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			KGB	30009	Hs.272409			Human mutation. 2003 Sep;22(3):257	Association analysis of novel TBX21 variants with asthma phenotypes.		604895	6750	1	2003	In conclusion, we identified twenty-three genetic polymorphisms in the important TBX21 gene, but no significant associations of TBX21 variants with asthma phenotypes were detected. TBX21 variation/haplotype information identified in this study will provide valuable information for future association studies of other immunological diseases.	Cohort 721 individuals										
135789		liver function; iron levels; ferritin; transferrin saturation	OTHER	OTH	Liver Diseases|Iron Overload	6	6q22.1-q22.3	TBPL1	134315993	134350322		Lorenz, M.  et al. 2005	15673318				TBP-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004865.2			CDC GDPinfo	9519	Hs.486507			Kidney international. 2005 Feb;67(2):691-7	Iron overload in kidney transplants: prospectiveanalysis of biochemical and genetic markers.		605521	23601	2	2005	 Our study demonstrates that iron overload is frequently present in renal transplant patients and shows a continuous decrease over time. This decrease is possibly impaired by the HFE C282Y and HFE H63D mutations. Furthermore, mutations in HFE may influence liver function as reflected by increased alanine-aminotransferase concentrations.	Cohort 438 renal transplant patients 										
135790		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q24	TBR1	161980865	161989819		Stefanovska, A. M.  et al. 2001	11719470	TbetaR-I(6A)			T-box, brain, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006593.2			CDC GDPinfo	10716	Hs.210862			Cancer research. 2001 Nov;61(22):8351-2	TbetaR-I(6A) polymorphism is not a tumor susceptibility allele in Macedonian colorectal cancer patients. Correspondence re: B. Pasche etal. Type I TbetaR-I(6A) Is a Candidate Tumor Susceptibility Allele. Cancer Res., 58: 2727-2732,1998.		604616	14174	2	2001	These results indicate that both heterozygosity (odds ratio, 0.592; 95% confidence interval, 0.23??1.54) and homozygosity (odds ratio, 0.08; 95% confidence interval, 0.01??1.97) for T???xR-I(6A) allele are not predisposition factors for the development of colorectal cancer in our population.	Control:100 newborns matched for ethnicity and gender:Macedonia;Control:100 individuals attending the geriatric clinic without a history of malignant disease, matched for ethnicity and gender:Macedonia;Case:117 colon cancer patients:Macedonia										
135791		congenital heart defects	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Chromosome Deletion|Genetic Predisposition to Disease	22	22q11.21	TBX1	18124225	18151112		Tassone F 2004	15060116			haplotype	T-box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080646.1			KGB	6899	Hs.173984			Journal of medical genetics. 2004 Apr;41(4):e40	Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.		602054	5723	1	2004												
135785		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	6	6q27	TBP	170705395	170723872		Stevanin, G.  et al. 2003	12805114				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			Brain. 2003 Jul;126(Pt 7):1599-603	Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.		600075	23600	2	2003	Further genetic heterogeneity of the HDL phenotype therefore exists.	Cohort 252 patients with a Huntington's disease-like (HDL) phenotype, including 60 with typical Huntington's disease, who had tested negative for pathological expansions in the IT15 gene 										
135786		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q27	TBP	170705395	170723872		Chistiakov, D. A.  et al. 2005	15848047				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3	Russian	Russia	CDC GDPinfo	6908	Hs.590872			Journal of autoimmunity. 2005 May;24(3):243-50	Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set.		600075	25620	2	2005												
135787		schizophrenia	PSYCH	PSY	Schizophrenia	6	6q27	TBP	170705395	170723872		Lee-Chen, G. J.  et al. 2005	16054804				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			Schizophrenia research. 2005 Oct;78(3-Feb):131-6	Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia.		600075	25621	2	2005												
135788		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome	6	6q27	TBP	170705395	170723872			16389595				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):173-6	CAG repeats in restless legs syndrome		600075	27632	2	2006												
135781	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12p13.2	TAS2R50	11029826	11030726		Shiffman, D.  et al. 2005	16175505			coding sequence	Taste receptor, type 2, member 50	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC112100			CDC GDPinfo	259296	Hs.553665			American journal of human genetics. 2005 Oct;77(4):596-605	Identification of four gene variants associated with myocardial infarction.	rs1376251		25619	2	2005												
135782		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q27	TBP	170705395	170723872		Hernandez, D.  et al. 2003	12853230				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			Parkinsonism & related disorders. 2003 Aug;9(6):317-20	Mutation at the SCA17 locus is not a common cause of parkinsonism.		600075	19761	2	2003	We conclude that  SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism.	Cohort 59 sporadic parkinsonism patients 										
135784		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	6	6q27	TBP	170705395	170723872		Grundmann, K.  et al. 2004	15503103				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			Journal of neurology. 2004 Oct;251(10):1232-4	Mutation at the SCA17 locus is not a common cause of primary dystonia		600075	19763	2	2004	We conclude that  the SCA17 repeat expansion is not a common cause of familial and sporadic dystonia.	Cohort 288 patients with different subtypes of primary torsion dystonia 										
135778	Y	phenylthiocarbamide sensitivity	NORMALVARIATION	NV		7	7q34	TAS2R38	141318899	141320042		Prodi, D. A.  et al. 2004	15466815				Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2			CDC GDPinfo	5726	Hs.122785			Chemical senses. 2004 Oct;29(8):697-702	Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene.		607751	19756	2	2004	Haplotype analyses of the three SNPs inside the PTC gene allowed us to identify only two haplotypes that were associated with the non-taster phenotype (80% AVI homozygous) and to taster phenotype (40% PAV homozygous and 56% PAV/AVI heterozygous). Sex, age and haplotype effect explained 77.2 % of the total variance in PTC sensitivity.	Cohort 85 unrelated individuals eastern Sardinia 										
135779	Y	bitter perception; sweet preference	NORMALVARIATION	NV		7	7q34	TAS2R38	141318899	141320042		Mennella, J. A.  et al. 2005	15687429				Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2			CDC GDPinfo	5726	Hs.122785			Pediatrics. 2005 Feb;115(2):e216-22	Genetic and environmental determinants of bitter perception and sweet preferences.		607751	19757	2	2005	 Variations in a taste receptor gene accounted for a major portion of individual differences in PROP bitterness perception in both children and adults, as well as a portion of individual differences in preferences for sweet flavors in children but not in adults. These findings underscore the advantages of studying genotype effects on behavioral outcomes in children, especially as they relate to taste preferences because cultural forces may sometimes override the A49P genotypic effects in adults. New knowledge about the molecular basis of food likes and dislikes in children, a generation that will struggle with obesity and diabetes, may suggest strategies to overcome diet-induced diseases.	Cohort 143 children and their mothers 										
135780	N	body mass; atherosclerosis, coronary; eating behavior	METABOLIC	MET	Coronary Disease	7	7q34	TAS2R38	141318899	141320042		Timpson, N. J.  et al. 2005	15883422				Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2		Great Britain	CDC GDPinfo	5726	Hs.122785			The American journal of clinical nutrition. 2005 May;81(5):1005-11	TAS2R38 (phenylthiocarbamide) haplotypes, coronary heart disease traits, and eating behavior in the British Women's Heart and Health Study.		607751	19758	2	2005	 TAS2R38 status was not an important determinant of CHD, related risk factors, or eating behavior in the British Women's Heart and Health Study sample.	Cohort 3,383 women from 23 towns UK 										
135774		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	TAPBP	33375449	33389967		Bukulmez, H.  et al. 2005	15743475				TAP binding protein (tapasin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003190.3			CDC GDPinfo	6892	Hs.370937			Arthritis research & therapy. 2005 ;7(2):R285-90	Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-basedcase-control study.		601962	14172	2	2005	These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6.	Case juvenile arthritis cases from the the Cincinnati systemic onset JRA cohort;Control:113 Caucasian healthy individuals										
135775		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAPBP	33375449	33389967		Thomson, W.  et al. 2002	12223104				TAP binding protein (tapasin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003190.3			CDC GDPinfo	6892	Hs.370937			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		601962	27237	2	2002	Review article											
135777		smoking behavior	CHEMDEPENDENCY	CHEM		7	7q34	TAS2R38	141318899	141320042		Cannon, D. S.  et al. 2005	16298720				Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2			CDC GDPinfo	5726	Hs.122785			Nicotine & tobacco research. 2005 Dec;7(6):853-8	Associations between phenylthiocarbamide gene polymorphisms and cigarette smoking.		607751	14173	2	2005												
135771		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Pyo, C. W.  et al. 2003	12648225				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Korean	Korea	CDC GDPinfo	6891	Hs.502			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		170261	27631	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
135772		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	TAP2	32897587	32914525		Forre, O.  et al. 2002	12195624				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		170261	28364	2	2002	Review article											
135773		juvenile arthritis	IMMUNE	IMM		6	6p21.3	TAPBP	33375449	33389967		Williams, A. P.  et al. 2000	11132161				TAP binding protein (tapasin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003190.3			CDC GDPinfo	6892	Hs.370937			Immunogenetics. 2000 Nov;52(2-Jan):11-Sep	Identification of novel Tapasin polymorphisms and linkage disequilibrium to MHC class I alleles.		601962	14171	2	2000	The allele frequency of Tapasin*01 (G16003) was 0.47 and Tapasin*02 (C16003) was 0.53 in this UK population.											
135768		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Konenkov, V. I.  et al. 2001	12687213				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		170261	27628	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
135769		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	TAP2	32897587	32914525		Airoldi, A.  et al. 2004	15548263				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	European		CDC GDPinfo	6891	Hs.502			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		170261	27629	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
135770	Y	dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	TAP2	32897587	32914525		Lee, H. J.  et al. 2001	11737038				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Korean	Korea	CDC GDPinfo	6891	Hs.502			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		170261	27630	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
135765		interferon response	IMMUNE	IMM	Hepatitis C, Chronic	6	6p21.3	TAP2	32897587	32914525		Sugimoto, Y.  et al. 2002	12225333				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Journal of viral hepatitis. 2002 Sep;9(5):377-84	A single nucleotide polymorphism of the low molecular mass polypeptide 7 gene influences the interferon response in patients with chronic hepatitis C.		170261	26610	2	2002	These findings suggest that a single nucleotide polymorphism of LMP7 gene is one of the important host factors which independently influence the response to IFN in patients with chronic hepatitis C.	Cohort 175 hepatitis C virus (HCV) patients 										
135766	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Cesari, M.  et al. 2004	15336779				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Human immunology. 2004 Aug;65(8):783-93	Is TAP2*0102 allele involved in insulin-dependent diabetes mellitus (type 1) protection?		170261	27235	2	2004	In contrast with other alleles, and despite a HRR value close to 1, we show that TAP2*0102 allele contributes significantly to a drastic reduction of the diabetogenic effect of DQB1*0201-DQA1*0301.1-DRB*0701 haplotype. Indeed, this haplotype, which is usually preferentially transmitted to affected children, is dominantly transmitted to healthy children when it is associated with TAP2*0102. Therefore, this allele seems to contribute to genetic protection to IDDM.	Cohort 70 patients with insulin-dependent diabetes mellitus (IDDM) 										
135767		multiple sclerosis; IgA nephropathy	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Zhu, X.  et al. 2000	11775239				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Chinese		CDC GDPinfo	6891	Hs.502			Chinese medical journal. 2000 Apr;113(4):372-5	Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese.		170261	27236	2	2000	 The polymorphisms of antigen-processing genes in this Shanghai population are similar to those observed in the other ethnic populations. No association was found between IgAN or MS and any antigen-processing genes tested in Shanghai population.	Case:21 patients with multiple sclerosis:China;Case:60 patients with IgA nephropathy:China;Control:80 normal Shanghai Chinese										
135762		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Hoarau, J. J.  et al. 2003	12786999				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	African	India|Reunion	CDC GDPinfo	6891	Hs.502			European journal of immunogenetics. 2003 Jun;30(3):207-11	Comparison of TAP2 frequencies in type 1 diabetes patients and healthy controls from three ethnic groups indicates an African origin for the TAP2 G allele.		170261	26607	2	2003	This observation is consistent with the view that this allele is restricted to populations of African origin. In addition, we have determined the large extended haplotype DQA1-DQB1-DRB1 associated with TAP2 G. We found that this allele is preferentially associated with the large conserved haplotype HLA DQA1*0501-DQB1*0201-DRB1*0301.	Case type 1 diabetic patientsof three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius);Control unrelated healthy controls of three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius)										
135763	N	measles	INFECTION	INF	Measles	6	6p21.3	TAP2	32897587	32914525		Dhiman, N.  et al. 2003	12786997				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3		Minnesota	CDC GDPinfo	6891	Hs.502			European journal of immunogenetics. 2003 Jun;30(3):195-200	Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination.		170261	26608	2	2003	Our study suggests that TAP and DM gene polymorphisms do not influence antibody levels post measles vaccination.	Cohort 242 Olmsted County, Minnesota, USA who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
135760		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TAP2	32897587	32914525		Kanagawa, S.  et al. 2003	12729048				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese	Japan	CDC GDPinfo	6891	Hs.502			Lupus. 2003 ;12(4):258-65	Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus.		170261	25617	2	2003	The association of TAP2*Bky2 was found with the antibody production to both 60 and 52kDa SS-A/Ro antigens. As TAP2*Bky2 had a strong linkage disequilibrium with DRB1*08032, TAP2*Bky2 or its haplotype with DRB1*08032 may be involved in SS-A/Ro antibody production not only in SS but also SLE patients, indicating that TAP2*Bky2 may be a susceptible gene not only to the disease of SS but also to the SS-A/Ro autoantibody production.	Control healthy control subjects;Case:114 Japanese systemi lupus erythematosus patients										
135761	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Yu, M. C.  et al. 2004	14749980				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Chinese	Taiwan	CDC GDPinfo	6891	Hs.502			Clinical rheumatology. 2004 Feb;23(1):35-9	Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis.		170261	25618	2	2004	We concluded that the TAP2 gene codon 565 'A' allele was associated with RA in Chinese patients in Taiwan. Individuals possessing the 'A' allele had a higher incidence of RA. A lack of association of TAP1 gene polymorphisms between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that TAP2 gene codon 565 polymorphism may play a role in RA.	Case:100 rheumatoid arthritis patients;Control:99 healthy controls										
135757		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility	6	6p21.3	TAP2	32897587	32914525		Fraile, A.  et al. 2000	11096258				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Spanish	Spain	CDC GDPinfo	6891	Hs.502			Experimental and clinical immunogenetics. 2000 ;17(4):199-204	TAP1 and TAP2 Polymorphism in Spanish Patients with Ankylosing Spondylitis		170261	25614	2	2000	No differences were observed in TAP2 alleles	Case:44 AS individuals;Control:61/35 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as:controls										
135758		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	TAP2	32897587	32914525		Takizawa, K.  et al. 2003	12911283				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese	Japan	CDC GDPinfo	6891	Hs.502			Autoimmunity. 2003 May;36(3):161-5	Association of transporter associated with antigen processing genes with Bechet's disease in Japanese.		170261	25615	2	2003	These results suggest the possibility that TAP molecule play some part in formation of skin lesion, such as erythema nodosum in BD in Japanese.	Case:46 Japanese patients with Behcet's disease;Control:95 healthy subjects										
135759		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Zhang, S. L.  et al. 2002	12047361				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3		France	CDC GDPinfo	6891	Hs.502			European journal of immunogenetics. 2002 Jun;29(3):241-9	TAP1 and TAP2 gene polymorphism in rheumatoid arthritis in a population in eastern France.		170261	25616	2	2002	Examination of TAP1 and TAP2 gene polymorphisms in RA patients revealed an association between a particular amino acid residue, namely Thr565 in the TAP2 gene, and RA. This association was found to be weak and did not seem to be a predictor for the severity of the disease.	Control:100 healthy controls;Case:138 Caucasian rheumatoid arthritis patients eastern France										
135754	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	6	6p21.3	TAP2	32897587	32914525		Ozbas-Gerceker, F.  et al. 2002	12026214				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3		Turkey	CDC GDPinfo	6891	Hs.502			The Turkish journal of pediatrics. 2002 Apr-Jun;44(2):91-7	Analysis of the modifying effects of TAP 1/2 genes on cystic fibrosis phenotype.		170261	23599	2	2002	We demonstrated that TAP genes might have modifying effects on the CF phenotype.	Control:100 healthy control subjects;Case:63 cystic fibrosis patients										
135755		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	6	6p21.3	TAP2	32897587	32914525		Liu, C.  et al. 2004	15385740				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	non-Hispanic homosexual men		CDC GDPinfo	6891	Hs.502			Journal of acquired immune deficiency syndromes (1999). 2004 Oct;37(2):1313-7	Lack of associations between HLA class II alleles and resistance to HIV-1 infection among white, non-Hispanic homosexual men.		170261	25612	2	2004												
135756		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TAP2	32897587	32914525		Tuokko, J.  et al. 2001	11229461				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Finnish	Finland	CDC GDPinfo	6891	Hs.502			Arthritis and rheumatism. 2001 Feb;44(2):315-22	HLA haplotype analysis in Finnish patients with rheumatoid arthritis		170261	25613	2	2001	 Both protection-associated and susceptibility-associated alleles can be found among HLA class II genes, and the results suggest that loci outside DR/DQ may contribute to the pathogenesis of RA.	Case:67 Finnish RA patient haplotypes;Control:77 control haplotypes										
135751		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6p21.3	TAP2	32897587	32914525		Zhang, Z.  et al. 2005	16191421				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Chinese	China	CDC GDPinfo	6891	Hs.502			Cellular & molecular immunology. 2005 Apr;2(2):141-4	Analysis of TAP1 and TAP2 polymorphism of mother-infant in Chinese patients with pre-eclampsia.		170261	23596	2	2005												
135752		urinary calculus	METABOLIC	MET	Urinary Calculi|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Huang, S. H.  et al. 2005	16215317				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Urologia internationalis. 2005 ;75(3):264-8	TAP 2 gene Msp-I polymorphism might be associated with calcium oxalate stone disease.		170261	23597	2	2005	 We conclude that the TAP2-2 MspI polymorphism might be associated with calcium stone disease.											
135753		lupus erythematosus	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Alvarado-Guerri, R.  et al. 2005	16216677				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Human immunology. 2005 Aug;66(8):921-30	TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population.		170261	23598	2	2005												
135748		echinococcosis	INFECTION	INF	Echinococcosis, Hepatic|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Zhang, S.  et al. 2003	12648282				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			European journal of immunogenetics. 2003 Apr;30(2):133-9	Polymorphisms of the TAP1 and TAP2 genes in human alveolar echinococcosis.		170261	23593	2	2003	Thr/Thr homozygosity at TAP2/665 was more prevalent in patients than in controls [64% vs. 45%, respectively; odds ratio (OR) = 2.1 (95% confidence interval (CI) 1.1; 2.7)] and Thr/Ala heterozygozity was less prevalent (32% vs. 50%, respectively) (P = 0.014). Of the 38 patients with progressive lesions, 76% were Thr/Thr, as compared with 55% of patients without progressive lesions and 45% of controls (P = 0.058 and 0.02, respectively), independent of HLA status. To determine whether this association is functionally relevant, functional analyses and/or confirmation in distinct populations of patients with alveolar echinococcosis would be required.	Control:100:controls;Case:94 patients with Echinococcus multilocularis infection										
135750		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Song, Y. W.  et al. 2005	16112028				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Korean	Korea	CDC GDPinfo	6891	Hs.502			Human immunology. 2005 Jul;66(7):810-7	Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients.		170261	23595	2	2005												
135745	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Cai, M.  et al. 2002	12485523				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Nov;41(11):758-61	[Antigen transporter gene polymorphism and predisposition to Graves disease: a preliminaryanalysis]		170261	23590	2	2002	 TAP1D and TAP2A haplotypes might confer protection against Graves disease while TAP1C and TAP2F haplotypes might confer cause susceptibility to Graves disease.	Case:67 Graves disease patients;Control:69 healthy controls										
135746	N	diabetes, type 1	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Penfornis, A.  et al. 2003	12507827				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Human immunology. 2003 Jan;64(1):156-67	Polymorphisms of human TAP2 detected by denaturing gradient gel electrophoresis		170261	23591	2	2003	None of the polymorphisms examined differed in frequency between individuals with type 1 diabetes and controls.	Case individuals with type 1 diabetes;Control:controls										
135747	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Correa, P. A.  et al. 2003	12634240				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Colombian	Colombia	CDC GDPinfo	6891	Hs.502			Annals of the rheumatic diseases. 2003 Apr;62(4):363-5	TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus.		170261	23592	2	2003	 The TAP2 locus influences susceptibility to SLE in our patient group; however, it has no significant effect on the immune response or on the clinical course of the disease.	Control:120 controls matched for sex, age and ethnicity;Case:140 patients with systemic lupus erythematosus										
135742	Y	liver disease	OTHER	OTH	Hepatitis C, Chronic	6	6p21.3	TAP2	32897587	32914525		Kuzushita, N.  et al. 2001	11494532				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Nippon rinsho Japanese journal of clinical medicine. 2001 Jul;59(7):1248-53	[Involvement of TAP2 and LMP7 gene polymorphisms in HCV infection]		170261	23587	2	2001	The TAP2 polymorphism may be closely associated with low hepatitis activity, whereas the LMP7 polymorphism influences the efficacy of IFN treatment and can be a useful predictive parameter in HCV patients with a low viral load.	Case chronic liver disease patients with chronic HCV:infection;Control chronic HCV carriers with normal ALT	hepatitis C									
135743		dermatitis, atopic	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Balladares, S.  et al. 2002	11960305				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Indian		CDC GDPinfo	6891	Hs.502			Genes and immunity. 2002 Apr;3(2):78-85	Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico.		170261	23588	2	2002	These findings are the basis for further anthropological studies and to explore the contribution of TAP genes to disease expression in Mexicans.	Cohort 121 Mexican individuals (32 Seri and 89 Mestizos) Mexico 										
135744		rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Takeuchi, K.  et al. 2002	12018331				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese	Japan	CDC GDPinfo	6891	Hs.502			The Annals of otology, rhinology, and laryngology. 2002 May;111(5 Pt 1):460-3	Lack of association between gene polymorphism of transporters associated with antigen processing and allergic rhinitis in a Japanese population.		170261	23589	2	2002	These findings suggest that the TAP1 gene is not primarily involved in susceptibility to allergic rhinitis in the Japanese population.	Case:60 urelated Japanese patients with allergic rhinitis;Control:62 healthy control subjects										
135739		esophageal cancer	CANCER	CAN	Papillomavirus Infections|Carcinoma|Esophageal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Cao, B.  et al. 2005	15774487				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Chinese	China	CDC GDPinfo	6891	Hs.502			Carcinogenesis. 2005 Jul;26(7):1280-4	LMP7/TAP2 gene polymorphisms and HPV infection in esophageal carcinoma patients from a high incidence area in China		170261	14170	2	2005	LMP7/TAP2 haplotype C may act as the risk factor in esophageal carcinoma development and it may influence the tumorigenesis in HPV infected individuals.		human papillomavirus									
135740		juvenile arthritis	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Tang, J.  et al. 2001	11294565				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			Genes and immunity. 2001 Feb;2(1):32-40	Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans.		170261	19755	2	2001	Such complexity of TAP2 polymorphisms, in the form of SNPs as well as alleles, is likely to complicate the analyses of disease associations and haplotype structures in the HLA class II region.	Cohort 626 individuals from North American Caucasians (n = 76), Brazilians (n = 148), Rwandans (n = 285), and Zambians (n = 117). 										
135741	Y	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Liu, C.  et al. 2003	12717621				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDPinfo	6891	Hs.502			The Journal of infectious diseases. 2003 May;187(9):1404-10	Association of polymorphisms in human leukocyte antigen class I and transporter associated with antigen processing genes with resistance to human immunodeficiency virus type 1 infection.		170261	23586	2	2003	In multivariate logistic analysis, only the A*0205 subgroup and the TAP2 Ala665 were associated with resistance.	Control:100 HIV-seronegative men who had been exposed repeatedly to HIV-1;Case:184 men who had seroconverted to HIV positive and had lower risk										
135736		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	TAP2	32897587	32914525		Davies EJ 1994	8311559				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			Y Wang	6891	Hs.502			Annals of the rheumatic diseases. 1994 Jan;53(1):61-3	Polymorphisms of the TAP2 transporter gene in systemic lupus erythematosus.		170261	5722	1	1994												
135737	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Penfornis, A.  et al. 2002	11916171				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Finnish	Finland	CDC GDPinfo	6891	Hs.502			Human immunology. 2002 Jan;63(1):61-70	Analysis of TAP2 polymorphisms in Finnish individuals with type I diabetes.		170261	14167	2	2002	These data are consistent with the existence of susceptibility haplotypes for type I diabetes in the Finnish population consisting of DRB1*04 (*0401 and *0404), DQ8, and TAP2F.	Case:146 well-characterized Finnish individuals with type I:diabetes;Control:90 control subjects not otherwise specified in:abstract										
135733		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	TAP2	32897587	32914525		Takeuchi F 1996	9014588				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese	Japan	Y Wang	6891	Hs.502			Annals of the rheumatic diseases. 1996 Dec;55(12):924-6	Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE.		170261	5719	1	1996	 Neither the TAP1 nor the TAP2 gene appears to determine disease susceptibility to SLE in Japanese, and these results are in keeping with those reported in Caucasian SLE patients.											
135734		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Rau H 2004	9226129				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	German	Germany	Y Wang	6891	Hs.502			European journal of immunogenetics. 1997 Jun;24(3):229-36	Polymorphisms of TAP1 and TAP2 genes in German patients with type 1 diabetes mellitus.		170261	5720	1	2004												
135735		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Rau H 2004	9226129				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	German	Germany	Y Wang	6891	Hs.502			European journal of immunogenetics. 1997 Jun;24(3):229-36	Polymorphisms of TAP1 and TAP2 genes in German patients with type 1 diabetes mellitus.		170261	5721	1	2004												
135730	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Yu MC 2004	14749980				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3		Taiwan	KGB	6891	Hs.502			Clinical rheumatology. 2004 Feb;23(1):35-9	Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis.		170261	5716	1	2004	We concluded that the TAP2 gene codon 565 'A' allele was associated with RA in Chinese patients in Taiwan. Individuals possessing the 'A' allele had a higher incidence of RA. A lack of association of TAP1 gene polymorphisms between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that TAP2 gene codon 565 polymorphism may play a role in RA.	Case:100 rheumatoid arthritis patients;Control:99 healthy controls										
135731		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Yamazaki Y 2004	8157258				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese and Caucasian	Japan	Y Wang	6891	Hs.502			The Hokkaido journal of medical science. 1994 Mar;69(2):337-46	Polymorphism of the TAP genes Japanese healthy control and type I diabetes mellitus		170261	5717	1	2004												
135732		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Yamazaki Y 2004	8157258				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese and Caucasian	Japan	Y Wang	6891	Hs.502			The Hokkaido journal of medical science. 1994 Mar;69(2):337-46	Polymorphism of the TAP genes Japanese healthy control and type I diabetes mellitus		170261	5718	1	2004												
135727	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525	0.002	Cesari MM et al. 1997	11916171	codon 651 polymorphism defines the allele TAP2F			Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Finnish	Finland	Y Wang	6891	Hs.502			Human immunology. 2002 Jan;63(1):61-70	Analysis of TAP2 polymorphisms in Finnish individuals with type I diabetes.		170261	5713	1	1997	These data are consistent with the existence of susceptibility haplotypes for type I diabetes in the Finnish population consisting of DRB1*04 (*0401 and *0404), DQ8, and TAP2F.	Case:146 well-characterized Finnish individuals with type I:diabetes;Control:90 control subjects not otherwise specified in:abstract										
135728	N	diabetes, type 1	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525	n	Penfornis A et al. 2003	12507827				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			Y Wang	6891	Hs.502			Human immunology. 2003 Jan;64(1):156-67	Diabetes Res Clin Pract. 2002 Jan;55(1):11-7.		170261	5714	1	2003	None of the polymorphisms examined differed in frequency between individuals with type 1 diabetes and controls.	Case individuals with type 1 diabetes;Control:controls										
135729		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	TAP2	32897587	32914525		Singal DP et al. 1994	8162639				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Clinical and experimental rheumatology. 1994 Jan-Feb;12(1):29-33	Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis.		170261	5715	1	1994												
135724	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	TAP2	32897587	32914525		Kuzushita N et al. 1999	10220507				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Gastroenterology. 1999 May;116(5):1149-54	Involvement of transporter associated with antigen processing 2 (TAP2) gene polymorphisms in hepatitis C virus infection.		170261	5710	1	1999	 These findings suggest that TAP2*0103 may be closely associated with low serum ALT activity in HCV-infected Japanese patients.											
135725	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Kumagai S et al. 1997	9324024	TAP2*Bky2			Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Arthritis and rheumatism. 1997 Sep;40(9):1685-92	Association of a new allele of the TAP2 gene TAP2*Bky2 (Val577) with susceptibility to Sjogren's syndrome.		170261	5711	1	1997	 The mutation in TAP2 (Val577) may be involved in SS-A autoantibody production and could be a genetic factor that determines susceptibility to SS.											
135726		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TAP2	32897587	32914525		Vandevyver C et al. 1994	7929801				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Journal of neuroimmunology. 1994 Oct;54(2-Jan):35-40	TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP.		170261	5712	1	1994												
135721	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TAP2	32897587	32914525		Kanagawa S et al. 2003	12729048	TAP2*Bky2 allele			Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Japanese	Japan	KGB	6891	Hs.502	presence of SS-A/Ro and other autoantibodies		Lupus. 2003 ;12(4):258-65	Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus.		170261	5707	1	2003	The association of TAP2*Bky2 was found with the antibody production to both 60 and 52kDa SS-A/Ro antigens. As TAP2*Bky2 had a strong linkage disequilibrium with DRB1*08032, TAP2*Bky2 or its haplotype with DRB1*08032 may be involved in SS-A/Ro antibody production not only in SS but also SLE patients, indicating that TAP2*Bky2 may be a susceptible gene not only to the disease of SS but also to the SS-A/Ro autoantibody production.	Control healthy control subjects;Case:114 Japanese systemi lupus erythematosus patients										
135722	Y	inflammatory urogenital disease	IMMUNE	IMM	Chlamydia Infections|Mycoplasma Infections|Arthritis, Infectious|Male Urogenital Diseases|Female Urogenital Diseases	6	6p21.3	TAP2	32897587	32914525		Sartakova ML et al. 1999	10626334				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Ter Arkh. 1999 ;71(11):41-5	Association of TAP1/TAP2 gene polymorphism with inflammatory urogenital diseases combined with joint diseases trans Assotsiirovannost' polimorfizma genov TAP1/TAP2 s vospalitel'nymi zabolevaniiami urogenital'nogo trakta sochetaiushchimisia s porazhenii		170261	5708	1	1999	 The findings can be used for predicting the joint syndrome development in patients with urogenital infection.											
135723	Y	familial bronchiectasis.	OTHER	OTH	Bronchiectasis|Sinusitis|Nasal Polyps|Severe Combined Immunodeficiency	6	6p21.3	TAP2	32897587	32914525		Donato L et al. 1995	8523185				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			The Journal of pediatrics. 1995 Dec;127(6):895-900	Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis.		170261	5709	1	1995												
135718		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Pyo, C. W.  et al. 2003	12648225				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Korean	Korea	CDC GDPinfo	6890	Hs.352018			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		170260	27234	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
135719		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	TAP1	32920963	32929726		Brown, M. A.  et al. 2002	12118167				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		170260	27627	2	2002	Review article											
135720		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	TAP1	32920963	32929726		Forre, O.  et al. 2002	12195624				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		170260	28319	2	2002	Review article											
135715		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Konenkov, V. I.  et al. 2001	12687213				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		170260	27231	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
135716		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	TAP1	32920963	32929726		Airoldi, A.  et al. 2004	15548263				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	European		CDC GDPinfo	6890	Hs.352018			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		170260	27232	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
135712		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Cesari, M.  et al. 2004	15336779				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Human immunology. 2004 Aug;65(8):783-93	Is TAP2*0102 allele involved in insulin-dependent diabetes mellitus (type 1) protection?		170260	26604	2	2004	In contrast with other alleles, and despite a HRR value close to 1, we show that TAP2*0102 allele contributes significantly to a drastic reduction of the diabetogenic effect of DQB1*0201-DQA1*0301.1-DRB*0701 haplotype. Indeed, this haplotype, which is usually preferentially transmitted to affected children, is dominantly transmitted to healthy children when it is associated with TAP2*0102. Therefore, this allele seems to contribute to genetic protection to IDDM.	Cohort 70 patients with insulin-dependent diabetes mellitus (IDDM) 										
135713		diabetes, type 1; measles	IMMUNE	IMM	HIV Seropositivity	6	6p21.3	TAP1	32920963	32929726		Tang, J.  et al. 2001	11250044				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Africa	CDC GDPinfo	6890	Hs.352018			Human immunology. 2001 Mar;62(3):269-78	Novel alleles at the lymphotoxin alpha (LTalpha) locus mark extended HLA haplotypes in native Africans.		170260	26605	2	2001	These findings suggest a preferential expansion of the human TNFc dinucleotide (CT/AG) repeat sequence and further imply the existence of two extended MHC lineages that have not been disrupted by recombinations.	Cohort 285/319 285 Rwandans and 319 Zambians Rwanda and Zambia 										
135714		multiple sclerosis; IgA nephropathy	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Zhu, X.  et al. 2000	11775239				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Chinese		CDC GDPinfo	6890	Hs.352018			Chinese medical journal. 2000 Apr;113(4):372-5	Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese.		170260	26606	2	2000	 The polymorphisms of antigen-processing genes in this Shanghai population are similar to those observed in the other ethnic populations. No association was found between IgAN or MS and any antigen-processing genes tested in Shanghai population.	Case:21 patients with multiple sclerosis:China;Case:60 patients with IgA nephropathy:China;Control:80 normal Shanghai Chinese										
135709	N	measles	INFECTION	INF	Measles	6	6p21.3	TAP1	32920963	32929726		Dhiman, N.  et al. 2003	12786997				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Minnesota	CDC GDPinfo	6890	Hs.352018			European journal of immunogenetics. 2003 Jun;30(3):195-200	Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination.		170260	25609	2	2003	Our study suggests that TAP and DM gene polymorphisms do not influence antibody levels post measles vaccination.	Cohort 242 Olmsted County, Minnesota, USA who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
135710		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	TAP1	32920963	32929726		Runstadler, J. A.  et al. 2004	15343265				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Finnish	Finland	CDC GDPinfo	6890	Hs.352018			Genes and immunity. 2004 Nov;5(7):562-71	HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: morecomplexity within the MHC.		170260	25610	2	2004	This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.	Case:234 Finnish JIA nuclear families:Finland;Control:639 elderly Finnish contol individuals										
135711		interferon response	IMMUNE	IMM	Hepatitis C, Chronic	6	6p21.3	TAP1	32920963	32929726		Sugimoto, Y.  et al. 2002	12225333				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Journal of viral hepatitis. 2002 Sep;9(5):377-84	A single nucleotide polymorphism of the low molecular mass polypeptide 7 gene influences the interferon response in patients with chronic hepatitis C.		170260	25611	2	2002	These findings suggest that a single nucleotide polymorphism of LMP7 gene is one of the important host factors which independently influence the response to IFN in patients with chronic hepatitis C.	Cohort 175 hepatitis C virus (HCV) patients 										
135706		psoriasis	IMMUNE	IMM	Psoriasis|Inflammation	6	6p21.3	TAP1	32920963	32929726		Vasku, V.  et al. 2000	11194890				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Archives of dermatological research. 2000 Nov;292(11):531-4	Polymorphisms in inflammation genes (angiotensinogen, TAP1 and TNF-beta) in psoriasis		170260	23583	2	2000	Polymorphisms in proinflammatory angiotensinogen and TNFbeta genes were associated with plaque psoriasis, a positive family history of psoriasis and with frequent tonsillitis in childhood.	Control:141 healthy subjects;Case:142 Caucasian (Czech) patients with plaque psoriasis										
135707		asthma; dermatitis, atopic; rhinitis, allergic	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	TAP1	32920963	32929726		Izakovicova Holla, L.  et al. 2001	11591192				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Czech	Czech Republic	CDC GDPinfo	6890	Hs.352018			Clinical and experimental allergy. 2001 Sep;31(9):1418-23	The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.		170260	23584	2	2001	 Several reports have indicated that different HLA products and genes may be risk factors for or protective factors against the development of atopy. We report no association between polymorphisms in the LT-alpha and TAP-1 genes alone and atopic diseases in the central Europe Caucasian (Czech) population, but there was an interesting interaction between the TAP333 and LT-alpha polymorphisms.	Control:184 Caucasian Czech healthy controls central Europe;Case:243 Caucasian Czech patients with histories of atopic asthma, allergic rhinitis and atopic dermatitis or their combinations central Europe										
135704		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TAP1	32920963	32929726		Kanagawa, S.  et al. 2003	12729048				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	CDC GDPinfo	6890	Hs.352018			Lupus. 2003 ;12(4):258-65	Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus.		170260	23581	2	2003	The association of TAP2*Bky2 was found with the antibody production to both 60 and 52kDa SS-A/Ro antigens. As TAP2*Bky2 had a strong linkage disequilibrium with DRB1*08032, TAP2*Bky2 or its haplotype with DRB1*08032 may be involved in SS-A/Ro antibody production not only in SS but also SLE patients, indicating that TAP2*Bky2 may be a susceptible gene not only to the disease of SS but also to the SS-A/Ro autoantibody production.	Control healthy control subjects;Case:114 Japanese systemi lupus erythematosus patients										
135705	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Yu, M. C.  et al. 2004	14749980				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Chinese	Taiwan	CDC GDPinfo	6890	Hs.352018			Clinical rheumatology. 2004 Feb;23(1):35-9	Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis.		170260	23582	2	2004	We concluded that the TAP2 gene codon 565 'A' allele was associated with RA in Chinese patients in Taiwan. Individuals possessing the 'A' allele had a higher incidence of RA. A lack of association of TAP1 gene polymorphisms between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that TAP2 gene codon 565 polymorphism may play a role in RA.	Case:100 rheumatoid arthritis patients;Control:99 healthy controls										
135700		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility	6	6p21.3	TAP1	32920963	32929726		Fraile, A.  et al. 2000	11096258				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Spanish	Spain	CDC GDPinfo	6890	Hs.352018			Experimental and clinical immunogenetics. 2000 ;17(4):199-204	TAP1 and TAP2 Polymorphism in Spanish Patients with Ankylosing Spondylitis		170260	23577	2	2000	No differences were observed in TAP2 alleles	Case:44 AS individuals;Control:61/35 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as:controls										
135701		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	TAP1	32920963	32929726		Takizawa, K.  et al. 2003	12911283				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	CDC GDPinfo	6890	Hs.352018			Autoimmunity. 2003 May;36(3):161-5	Association of transporter associated with antigen processing genes with Bechet's disease in Japanese.		170260	23578	2	2003	These results suggest the possibility that TAP molecule play some part in formation of skin lesion, such as erythema nodosum in BD in Japanese.	Case:46 Japanese patients with Behcet's disease;Control:95 healthy subjects										
135702	Y	recurrent respiratory papillomatosis	UNKNOWN	UNK	Papillomavirus Infections|Recurrence	6	6p21.3	TAP1	32920963	32929726		Vambutas, A.  et al. 2004	14976605				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			The Journal of infectious diseases. 2004 Mar;189(5):871-9	Polymorphism of transporter associated with antigen presentation 1 as a potential determinant for severity of disease in recurrent respiratory papillomatosis caused by human papillomavirus types 6 and 11.		170260	23579	2	2004	Therefore, severity of disease in a patient with RRP might be determined by sequencing TAP1, in conjunction with HLA class II genes.	Cohort patients with recurrent respiratory papillomatosis 										
135697	Y	urinary calculus	METABOLIC	MET	Urinary Calculi|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Huang, S. H.  et al. 2005	16215317				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Urologia internationalis. 2005 ;75(3):264-8	TAP 2 gene Msp-I polymorphism might be associated with calcium oxalate stone disease.		170260	14165	2	2005	 We conclude that the TAP2-2 MspI polymorphism might be associated with calcium stone disease.											
135698		lupus erythematosus	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Alvarado-Guerri, R.  et al. 2005	16216677				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Human immunology. 2005 Aug;66(8):921-30	TAP1 and TAP2 polymorphisms and their linkage disequilibrium with HLA-DR, -DP, and -DQ in an eastern Andalusian population.		170260	14166	2	2005												
135699	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	6	6p21.3	TAP1	32920963	32929726		Ozbas-Gerceker, F.  et al. 2002	12026214				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Turkey	CDC GDPinfo	6890	Hs.352018			The Turkish journal of pediatrics. 2002 Apr-Jun;44(2):91-7	Analysis of the modifying effects of TAP 1/2 genes on cystic fibrosis phenotype.		170260	19750	2	2002	We demonstrated that TAP genes might have modifying effects on the CF phenotype.	Control:100 healthy control subjects;Case:63 cystic fibrosis patients										
135694	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Lin, H. J.  et al. 2004	15887980	codon 333 and codon 637			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		China	CDC GDPinfo	6890	Hs.352018			Molecular diagnosis. 2004 ;8(4):245-52	Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma.		170260	14162	2	2004	 The immune system acts as an arbiter to help determine whether under stress a neuronal cell will survive or sacrifice itself to injuries. TAP1-1 and TAP1-2 play an important role in the immune system. TAP1-1 and TAP1-2 gene polymorphisms may, by way of post-transcriptional changes and altered regulation of gene expression, be involve the immune system in the development of POAG.	Control:105 healthy volunteers;Case:66 primary open angle glaucoma patients										
135695		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Song, Y. W.  et al. 2005	16112028				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Korean	Korea	CDC GDPinfo	6890	Hs.352018			Human immunology. 2005 Jul;66(7):810-7	Association of TAP1 and TAP2 gene polymorphisms with systemic sclerosis in Korean patients.		170260	14163	2	2005												
135696		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6p21.3	TAP1	32920963	32929726		Zhang, Z.  et al. 2005	16191421				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Chinese	China	CDC GDPinfo	6890	Hs.352018			Cellular & molecular immunology. 2005 Apr;2(2):141-4	Analysis of TAP1 and TAP2 polymorphism of mother-infant in Chinese patients with pre-eclampsia.		170260	14164	2	2005												
135691		measles	INFECTION	INF	Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Lajoie, J.  et al. 2003	12878362				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Zimbabwe	CDC GDPinfo	6890	Hs.352018			Human immunology. 2003 Aug;64(8):823-9	Novel TAP1 polymorphisms in indigenous Zimbabweans:their potential implications on TAP function and in human diseases.		170260	14154	2	2003	Thus, TAP1 polymorphism has evolved differently among populations presumably because of the evolutionary pressures generated by prevalent pathogens in these geographically distinct regions.	Cohort individuals in the indigenous Zimbabwean population (Shona ethnic group) 										
135692	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	TAP1	32920963	32929726		Witkowska-Tobola, A. = M et al. 2004	15306733				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Polish	Poland	CDC GDPinfo	6890	Hs.352018			Journal of applied genetics. 2004 ;45(3):391-3	Polymorphism of the TAP1 gene in Polish patients with psoriasis vulgaris.		170260	14157	2	2004	In conclusion, our data suggest that the TAP1*D allele could lead to genetic susceptibility to psoriasis vulgaris in Poles.	Case:169 Polish psoriasis vulgaris patients;Control:66 healthy controls										
135693	Y	Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	TAP1	32920963	32929726		Chen, R. H.  et al. 2004	15711027				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Taiwan	CDC GDPinfo	6890	Hs.352018			Endocrine. 2004 Nov;25(2):137-40	Association between the TAP1 gene codon 637 polymorphism and Graves' disease.		170260	14161	2	2004	This shows that the single-site polymorphism of the TAP1 gene at codon 637 may be an indicator for predicting development of GD.	Control:105 normal healthy controls;Case:95 patients with Graves' disease										
135689		echinococcosis	INFECTION	INF	Echinococcosis, Hepatic|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Zhang, S.  et al. 2003	12648282				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			European journal of immunogenetics. 2003 Apr;30(2):133-9	Polymorphisms of the TAP1 and TAP2 genes in human alveolar echinococcosis.		170260	14149	2	2003	Thr/Thr homozygosity at TAP2/665 was more prevalent in patients than in controls [64% vs. 45%, respectively; odds ratio (OR) = 2.1 (95% confidence interval (CI) 1.1; 2.7)] and Thr/Ala heterozygozity was less prevalent (32% vs. 50%, respectively) (P = 0.014). Of the 38 patients with progressive lesions, 76% were Thr/Thr, as compared with 55% of patients without progressive lesions and 45% of controls (P = 0.058 and 0.02, respectively), independent of HLA status. To determine whether this association is functionally relevant, functional analyses and/or confirmation in distinct populations of patients with alveolar echinococcosis would be required.	Control:100:controls;Case:94 patients with Echinococcus multilocularis infection										
135690		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Huang, C. M.  et al. 2003	12827444				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Chinese	China|Taiwan	CDC GDPinfo	6890	Hs.352018			Rheumatology international. 2004 May;24(3):130-2	Polymorphisms of TAP1 transporter genes in Chinese patients with systemic lupus erythematosus in Taiwan.		170260	14153	2	2003	The results revealed no significant differences between the healthy individuals and SLE patients with TAP1-1 (Dpn II) and TAP1-2 (Acc I) polymorphisms ( P=0.10 and 0.36, respectively). However, the G alleles of TAP1-1 and TAP1-2 were significantly more common than the A alleles in serositis of SLE patients (chi(2)=11.16 and P=0.004, chi(2)=8.10 and P=0.02, respectively).	Control:104 healthy controls;Case:88 Chinese patients with systemic lupus erythematosus:Taiwan										
135686	N	diabetes, type 1	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Penfornis, A.  et al. 2003	12507827				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Human immunology. 2003 Jan;64(1):156-67	Polymorphisms of human TAP2 detected by denaturing gradient gel electrophoresis		170260	14146	2	2003	None of the polymorphisms examined differed in frequency between individuals with type 1 diabetes and controls.	Case individuals with type 1 diabetes;Control:controls										
135687		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Correa, P. A.  et al. 2003	12634240				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Colombian	Colombia	CDC GDPinfo	6890	Hs.352018			Annals of the rheumatic diseases. 2003 Apr;62(4):363-5	TAP1 and TAP2 polymorphisms analysis in northwestern Colombian patients with systemic lupus erythematosus.		170260	14147	2	2003	 The TAP2 locus influences susceptibility to SLE in our patient group; however, it has no significant effect on the immune response or on the clinical course of the disease.	Control:120 controls matched for sex, age and ethnicity;Case:140 patients with systemic lupus erythematosus										
135688	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Hang, L. W.  et al. 2003	12640628				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Journal of clinical laboratory analysis. 2003 ;17(2):57-60	TAP1 gene AccI polymorphism is associated with atopic bronchial asthma.		170260	14148	2	2003	The results show that the AccI polymorphism may be an indicator for atopic bronchial asthma.	Case:116 patients with allergic asthma;Control:43 healthy people										
135683		dermatitis, atopic	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Balladares, S.  et al. 2002	11960305				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Indian		CDC GDPinfo	6890	Hs.352018			Genes and immunity. 2002 Apr;3(2):78-85	Distribution of TAP gene polymorphisms and extended MHC haplotypes in Mexican Mestizos and in Seri Indians from northwest Mexico.		170260	14141	2	2002	These findings are the basis for further anthropological studies and to explore the contribution of TAP genes to disease expression in Mexicans.	Cohort 121 Mexican individuals (32 Seri and 89 Mestizos) Mexico 										
135684	N	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Takeuchi, K.  et al. 2002	12018331				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	CDC GDPinfo	6890	Hs.352018			The Annals of otology, rhinology, and laryngology. 2002 May;111(5 Pt 1):460-3	Lack of association between gene polymorphism of transporters associated with antigen processing and allergic rhinitis in a Japanese population.		170260	14142	2	2002	These findings suggest that the TAP1 gene is not primarily involved in susceptibility to allergic rhinitis in the Japanese population.	Case:60 urelated Japanese patients with allergic rhinitis;Control:62 healthy control subjects										
135685	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Cai, M.  et al. 2002	12485523				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDPinfo	6890	Hs.352018			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Nov;41(11):758-61	[Antigen transporter gene polymorphism and predisposition to Graves disease: a preliminaryanalysis]		170260	14145	2	2002	 TAP1D and TAP2A haplotypes might confer protection against Graves disease while TAP1C and TAP2F haplotypes might confer cause susceptibility to Graves disease.	Case:67 Graves disease patients;Control:69 healthy controls										
135680		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Rau H 2004	9226129				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	German	Germany	Y Wang	6890	Hs.352018			European journal of immunogenetics. 1997 Jun;24(3):229-36	Polymorphisms of TAP1 and TAP2 genes in German patients with type 1 diabetes mellitus.		170260	5705	1	2004												
135681		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Ma L 2004	9129974				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Finnish	Finland	Y Wang	6890	Hs.352018			Human immunology. 1997 Apr;53(2):159-66	Evaluation of TAP1 polymorphisms with insulin dependent diabetes mellitus in Finnish diabetic patients. The Childhood Diabetes in Finland (DiMe) Study Group		170260	5706	1	2004												
135682		asthma	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Tang, J.  et al. 2001	11250043				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Zambian, Caucasian		CDC GDPinfo	6890	Hs.352018			Human immunology. 2001 Mar;62(3):256-68	TAPI polymorphisms in several human ethnic groups:characteristics, evolution, and genotyping strategies.		170260	14136	2	2001	Overall, TAP1*0101 was the predominant allele in all ethnic groups, with frequencies ranging from 0.667 in Zambians to 0.808 in US Caucasians. The TAP1*0401 frequency showed the greatest difference between Africans (0.221-0.254) and Caucasians (0.033), with Brazilians (0.058) fitting in the middle. Consistent with earlier work based on Caucasians and gorillas, *0101 appeared to be the newest human TAP1 allele, suggesting a dramatic spread of *0101 into all human populations examined.	Cohort samples from Caucasians, Africans, Brazilians 										
135677		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Yamazaki Y 2004	8157258				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese and Caucasian	Japan	Y Wang	6890	Hs.352018			The Hokkaido journal of medical science. 1994 Mar;69(2):337-46	Polymorphism of the TAP genes Japanese healthy control and type I diabetes mellitus		170260	5702	1	2004												
135678		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Rau H 2004	9226129				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	German	Germany	Y Wang	6890	Hs.352018			European journal of immunogenetics. 1997 Jun;24(3):229-36	Polymorphisms of TAP1 and TAP2 genes in German patients with type 1 diabetes mellitus.		170260	5703	1	2004												
135679		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	TAP1	32920963	32929726		Takeuchi F 1996	9014588				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	Y Wang	6890	Hs.352018			Annals of the rheumatic diseases. 1996 Dec;55(12):924-6	Polymorphisms of the TAP1 and TAP2 transporter genes in Japanese SLE.		170260	5704	1	1996	 Neither the TAP1 nor the TAP2 gene appears to determine disease susceptibility to SLE in Japanese, and these results are in keeping with those reported in Caucasian SLE patients.											
135674	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726	n	Hirashiki A 2003	14563588	1051G3A (Arg219Lys)			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	KGB	6890	Hs.352018			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		170260	5699	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
135675		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Yamazaki Y 2004	8157258				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese and Caucasian	Japan	Y Wang	6890	Hs.352018			The Hokkaido journal of medical science. 1994 Mar;69(2):337-46	Polymorphism of the TAP genes Japanese healthy control and type I diabetes mellitus		170260	5700	1	2004												
135676		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP1	32920963	32929726		Yan G 2004	9458110				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			Y Wang	6890	Hs.352018			Tissue antigens. 1997 Dec;50(6):576-85	Screening of the TAP1 gene by denaturing gradient gel electrophoresis in insulin-dependent diabetes mellitus: detection and comparison of new polymorphisms between patients and controls.		170260	5701	1	2004												
135671	Y	inflammatory urogenital disease	IMMUNE	IMM	Chlamydia Infections|Mycoplasma Infections|Arthritis, Infectious|Male Urogenital Diseases|Female Urogenital Diseases	6	6p21.3	TAP1	32920963	32929726		Sartakova ML et al. 1999	10626334				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			KGB	6890	Hs.352018			Ter Arkh. 1999 ;71(11):41-5	Association of TAP1/TAP2 gene polymorphism with inflammatory urogenital diseases combined with joint diseases trans Assotsiirovannost' polimorfizma genov TAP1/TAP2 s vospalitel'nymi zabolevaniiami urogenital'nogo trakta sochetaiushchimisia s porazhenii		170260	5696	1	1999	 The findings can be used for predicting the joint syndrome development in patients with urogenital infection.											
135672		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TAP1	32920963	32929726		Vandevyver C et al. 1994	7929801				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			KGB	6890	Hs.352018			Journal of neuroimmunology. 1994 Oct;54(2-Jan):35-40	TAP 1 and TAP 2 transporter gene polymorphisms in multiple sclerosis: no evidence for disease association with TAP.		170260	5697	1	1994												
135673	N	Allergic Rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726	n	Takeuchi K 2002	12018331	????????			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Japanese	Japan	KCB	6890	Hs.352018			The Annals of otology, rhinology, and laryngology. 2002 May;111(5 Pt 1):460-3	Lack of association between gene polymorphism of transporters associated with antigen processing and allergic rhinitis in a Japanese population.		170260	5698	1	2002	These findings suggest that the TAP1 gene is not primarily involved in susceptibility to allergic rhinitis in the Japanese population.	Case:60 urelated Japanese patients with allergic rhinitis;Control:62 healthy control subjects										
135667		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic	6	6p21.3	TAP1	32920963	32929726		Ismail A 1997	9042048	TAP1-D			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Tunisia	KGB	6890	Hs.352018			The Journal of allergy and clinical immunology. 1997 Feb;99(2):216-23			170260	5692	1	1997	 Tunisian persons carrying the glycine-637 of the TAP1 protein may have an increased risk of atopy. Specific association was found between the homozygous TAP1 D/D genotype and allergic asthma.											
135669		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic	6	6p21.3	TAP1	32920963	32929726		Ismail A 1997	9042048				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Tunisia	KGB	6890	Hs.352018			The Journal of allergy and clinical immunology. 1997 Feb;99(2):216-23			170260	5694	1	1997	 Tunisian persons carrying the glycine-637 of the TAP1 protein may have an increased risk of atopy. Specific association was found between the homozygous TAP1 D/D genotype and allergic asthma.											
135670	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726	0.023	Gostout BS 2003	12648582	TAP1 C/C			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			KEW	6890	Hs.352018			Gynecologic oncology. 2003 Mar;88(3):326-32			170260	5695	1	2003	 We demonstrated a significant association between immune response genes and the risk of cervical cancer. Our data create a compelling argument for a gene or a cluster of genes in the HLA region of chromosome 6 that regulates host immune responses to human papillomavirus infection in a manner that results in inherited susceptibility or resistance to the transforming properties of oncogenic papillomaviruses.	Case:127; Control:175										
135664		cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Venous Thrombosis	X	Xq13.1	TAF1	70502838	70666979		Lichy, C.  et al. 2005	16155788				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Journal of neurology. 2005	Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems.		313650	26602	2	2005	 In this large series of CVT patients, a positive association with established thrombophilic risk factors FVL and especially the PT G20210A mutation was confirmed. In contrast, our study found no significant association of CVT with SNPs of the TAFI and the PZ genes. Other than testing for FVL and the PT G20210A mutation, exploration of these potential thrombophilic variants seems to be of limited value in the investigation of CVT.											
135665		longevity	AGING	AGE	Thrombosis|Inflammation	X	Xq13.1	TAF1	70502838	70666979		Reiner, A. P.  et al. 2005	15939070				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Atherosclerosis. 2005 Jul;181(1):175-83	Common promoter polymorphisms of inflammation and thrombosis genes and longevity in older adults: thecardiovascular health study.		313650	26603	2	2005												
135666	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q42.13	TAF5L	227795486	227828417		Chistiakov, D. A.  et al. 2005	16206511				TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014409.3	Russian	Russia	CDC GDPinfo	27097	Hs.270621			Autoimmunity. 2005 Jun;38(4):283-93	The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.			19749	2	2005												
135661	Y	Thrombin activatable fibrinolysis inhibitor	HEMATOLOGICAL	HEM		X	Xq13.1	TAF1	70502838	70666979		Guimaraes, A. H.  et al. 2004	14871254				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			British journal of haematology. 2004 Mar;124(5):659-65	Association between thrombin activatable fibrinolysis inhibitor genotype and levels in plasma: comparison of different assays.		313650	19747	2	2004	Our results demonstrate that artefacts may arise when measuring TAFI antigen levels by ELISA. Nevertheless, the electroimmunoassay and the Actichrome TAFI assay support a genotype-related variation of TAFI concentration.	Cohort 92 healthy individuals 										
135662		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	X	Xq13.1	TAF1	70502838	70666979		Morange, P. E.  et al. 2005	15978108				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2		France|Northern Ireland	CDC GDPinfo	6872	Hs.158560			Journal of thrombosis and haemostasis. 2005 Jul;3(7):1503-10	TAFI gene haplotypes, TAFI plasma levels and future risk of coronary heart disease: the PRIME Study.		313650	19748	2	2005	 Thrombin-activatable fibrinolysis inhibitor gene polymorphisms are strongly associated to plasma TAFI levels, but the relation to CHD risk is less clear.											
135663		pulmonary thromboembolism	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis|Genetic Predisposition to Disease	X	Xq13.1	TAF1	70502838	70666979		Zidane, M.  et al. 2003	12958613				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Thrombosis and haemostasis. 2003 Sep;90(3):439-45	Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively proven pulmonary embolism.		313650	23576	2	2003	The frequency of FXIIIA Leu34Leu in PE patients and	Case patients with objectively demonstrated pulmonary:embolism;Control non-pulmonary embolism patients										
135658	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Graft Occlusion, Vascular	X	Xq13.1	TAF1	70502838	70666979		Segev, A.  et al. 2004	15306156	Thr325Ile			TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2		Canada	CDC GDPinfo	6872	Hs.158560			Thrombosis research. 2004 ;114(2):137-41	Thr325Ile polymorphism of the TAFI gene is related to TAFI antigen plasma levels and angiographic restenosis after percutaneous coronary interventions.		313650	14131	2	2004	 These data suggest that plasma TAFI antigen levels are genetically controlled. The T/T Thr325Ile polymorphism of the TAFI gene is associated with lower plasma levels of TAFI antigen and lower restenosis rates after PCI.	Cohort 159 patients with stable angina 										
135659		thrombin acthrombin activatable fibrinolysis; inhibitor level	HEMATOLOGICAL	HEM	Myocardial Infarction|Genetic Predisposition to Disease	X	Xq13.1	TAF1	70502838	70666979		Frere, C.  et al. 2005	16113828				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Thrombosis and haemostasis. 2005 Aug;94(2):373-9	Quantification of thrombin activatable fibrinolysis inhibitor (TAFI) gene polymorphism effects on plasma levels of TAFI measured with assays insensitive to isoform-dependent artefact.		313650	14132	2	2005												
135660	Y	angina	CARDIOVASCULAR	CARD	Angina, Unstable|Genetic Predisposition to Disease|Inflammation	X	Xq13.1	TAF1	70502838	70666979		Brouwers, G. J.  et al. 2003	12876631				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Thrombosis and haemostasis. 2003 Jul;90(1):92-100	Association between thrombin-activatable fibrinolysis inhibitor (TAFI) and clinical outcome in patients with unstable angina pectoris.		313650	19746	2	2003	In conclusion, in this study population plasma TAFI Ag levels are significantly correlated with refractiveness in patients with UAP. Furthermore, all three polymorphisms contribute independently to plasma TAFI Ag levels, but not to refractiveness.	Cohort 209 patients with unstable angina pectoris 										
135655	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	X	Xq13.1	TAF1	70502838	70666979		Kostka, H.  et al. 2003	14651335				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Clinical laboratory. 2003 ;49(12-Nov):645-7	Polymorphisms in the TAFI gene and the risk of venous thrombosis.		313650	14128	2	2003	Our results showed no association of the investigated "TAFI-increasing" alleles TAFI 505A (Thr147) and TAFI+1542C with the risk of venous thrombosis. However the adjustment for age, sex, factor V Leiden, PAI-844A allele and t-PA-7,351T allele indicates a tendency to a moderately increased thrombotic risk of TAFI+1542GG carriers (low TAFI level).	Control:130 age- and sex-matched healthy controls;Case:130 patients with deep venous thrombosis										
135657		cancer; thromboembolism, venous	CANCER	CAN	Neoplasms|Leukemia|Lymphoma, Non-Hodgkin	X	Xq13.1	TAF1	70502838	70666979		Knoefler, R.  et al. 2003	14719174				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Seminars in thrombosis and hemostasis. 2003 Dec;29(6):575-83	The Impact of Single Nucleotide Polymorphisms of the Thrombin Activatable Fibrinolysis Inhibitor (TAFI) Gene on TAFI Antigen Levels in Healthy Children and Pediatric Oncology Patients		313650	14130	2	2003	Although in oncologic patients the risk of thrombosis was markedly increased by the heterozygous factor V 1691G>A mutation, the two TAFI polymorphisms investigated exerted no thrombogenic influence.	Case pediatric oncology patients with and without venous:thrombosis;Control healthy children										
135652	Y	Atherothrombosis	CARDIOVASCULAR	CARD	Angina Pectoris	X	Xq13.1	TAF1	70502838	70666979	0.01	Morange PE 2003	12624641				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2	men recruited in France and Ireland	France|Northern Ireland	KEW	6872	Hs.158560	angina pectoris		Thrombosis and haemostasis. 2003 Mar;89(3):554-60			313650	5689	1	2003		Case:143; Control:286										
135653	Y	blood pressure	CARDIOVASCULAR	CARD		X	Xq13.1	TAF1	70502838	70666979		Koschinsky ML et al. 2001	11903334				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			KGB	6872	Hs.158560			Clinical genetics. 2001 Nov;60(5):345-9	Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAF1) with blood pressure.		313650	5690	1	2001												
135654		Hyperprothrombinemia	CARDIOVASCULAR	CARD	Thrombosis	X	Xq13.1	TAF1	70502838	70666979		Colucci M 2004	14630828				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			KGB	6872	Hs.158560			Blood. 2004 Mar;103(6):2157-61	Hyperprothrombinemia associated with prothrombin G20210A mutation inhibits plasma fibrinolysis through a TAFI-mediated mechanism.		313650	5691	1	2004												
135648	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	21	21q22.2	SYNJ1	32922943	33022148		Saito, T.  et al. 2001	11443522				Synaptojanin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003895.2			CDC GDPinfo	8867	Hs.473632			Molecular psychiatry. 2001 Jul;6(4):387-95	Mutation analysis of SYNJ1: a possible candidategene for chromosome 21q22-linked bipolar disorder.		604297	19743	2	2001	Although we failed to unequivocally identify a specific SYNJ1 allele that could be responsible for putative chromosome 21q22-linked BPD, several interesting variants were found to be increased in bipolar subjects and should be further investigated.	Control students, anonymous blood bank donors, anonymous DNA samples from liver biopsies of patients undergoing abdominal surgery, and hospital, medical school, and clinic staff;Case:149 bipolar patients										
135649		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xp11.23-p11.22	SYP	48931208	48943605		Brookes, K. J.  et al. 2005	16082702				Synaptophysin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003179.2			CDC GDPinfo	6855	Hs.632804			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):33-7	DNA pooling analysis of ADHD and genes regulating vesicle release of neurotransmitters.		313475	19744	2	2005												
135650	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting|Genetic Predisposition to Disease	7	7q21-q22	TAC1	97199310	97207720		Cunningham, S.  et al. 2005	15729363				Tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013996.1			CDC GDPinfo	6863	Hs.2563			Genes and immunity. 2005 May;6(3):265-70	Haplotype analysis of the preprotachykinin-1 (TAC1) gene in multiple sclerosis.		162320	19745	2	2005	While independent reproduction of these data in other data sets is indicated, our work is suggestive for a role of the TAC1 gene in MS.	Case Northern Irish multiple sclerosis patients;Control:controls										
135644	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.3	SYN3	31238539	31784329		Lachman, H. M.  et al. 2005	15900227				Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2	African American		CDC GDPinfo	8224	Hs.584827			Psychiatric genetics. 2005 Jun;15(2):127-32	Association of schizophrenia in African Americans to polymorphism in synapsin III gene.		602705	14127	2	2005	The findings support a role for synapsin III in a subset of African American patients with schizophrenia and raises questions about selective pressure in Africa to account for the extraordinary disparity of the 469 and 470 single-nucleotide polymorphisms in different ethnic populations.	Control Caucasian and African American controls;Case Caucasian and African American patients with:schizophrenia										
135645	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.3	SYN3	31238539	31784329		Tsai, M.  et al. 2002	11840510				Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2			CDC GDPinfo	8224	Hs.584827			American journal of medical genetics. 2002 Jan;114(1):79-83	Mutation analysis of synapsin III gene in schizophrenia.		602705	19741	2	2002	Hence, our data are not in favor of a large effect of synapsin III gene in the pathogenesis of schizophrenia	Control:51 controls not otherwise specified in abstract;Case:62 Han Chinese schizophrenic patients										
135646		Schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	SYNGR1	38075899	38163078		Verma R 2004	14732601				Synaptogyrin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004711.3	Indian		KGB	9145	Hs.216226			Biological psychiatry. 2004 Jan;55(2):196-9	A nonsense mutation in the synaptogyrin 1 gene in a family with schizophrenia.		603925	6613	1	2004	 Because the SYNGR1 gene is involved in presynaptic pathways, reduced levels of this protein might play some role in the pathogenesis of schizophrenia.											
135647	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	22	22q13.1	SYNGR1	38075899	38163078		Verma, R.  et al. 2005	16215643				Synaptogyrin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004711.3			CDC GDPinfo	9145	Hs.216226			Journal of human genetics. 2005 ;50(12):635-40	SYNGR1 is associated with schizophrenia and bipolar disorder in southern India.		603925	19742	2	2005												
135640		Parkinson's disease	NEUROLOGICAL	NEUR	Autonomic Nervous System Diseases|Parkinson Disease|Hypotension, Orthostatic|	X	Xp11.23	SYN1	47316243	47364200		Singleton A 2004	14736756				Synapsin I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006950.3			KGB	6853	Hs.225936			Brain. 2004 Apr;127(Pt 4):768-72	Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication.		313440	5687	1	2004												
135641		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	X	Xp11.23	SYN1	47316243	47364200		Tsunoda K 2001	11719842				Synapsin I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006950.3	Japanese		Y Wang	6853	Hs.225936	Complications		Diabetologia. 2001 Nov;44(11):2092-7	Single nucleotide polymorphism (D68D, T to C) in the syntaxin 1A gene correlates to age at onset and insulin requirement in Type II diabetic patients.		313440	5688	1	2001												
135642	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3p25	SYN2	12020861	12208532		Chen, Q.  et al. 2004	15271586				Synapsin II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133625.2			CDC GDPinfo	6854	Hs.445503			Biological psychiatry. 2004 Aug;56(3):177-81	Positive association between synapsin II and schizophrenia.		600755	19740	2	2004	 This study suggests a positive association between synapsin II and schizophrenia, implying that synapsin II is involved in the etiology of schizophrenia.	Control:628 normal control subjects;Case:654 schizophrenic patients										
135643		schizophrenia	PSYCH	PSY		3	3p25	SYN2	12020861	12208532		Lee, H. J.  et al. 2005	16131404				Synapsin II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133625.2			CDC GDPinfo	6854	Hs.445503			Behavioral and brain functions [electronic resource] :  BBF. 2005 Aug;1:15	Association study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia.		600755	23575	2	2005	 These results suggest that both SYN2 and CPLX2 may confer susceptibility to schizophrenia in the Korean population.											
135636	Y	Leigh syndrome and cytochrome C oxidase deficiency	OTHER	OTH	Leigh Disease|Cytochrome-c Oxidase Deficiency	9	9q34.2	SURF1	135208486	135213182		Pequignot MO et al. 2001	11317352				Surfeit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003172.2			KGB	6834	Hs.512464			Human mutation. 2001 May;17(5):374-81	Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.		185620	5685	1	2001												
135637	Y	deficient cytochrome c oxidase assembly	OTHER	OTH	Leigh Disease	9	9q34.2	SURF1	135208486	135213182		Poyau A et al. 2000	10746561				Surfeit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003172.2			KGB	6834	Hs.512464			Human genetics. 2000 Feb;106(2):194-205	Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.		185620	5686	1	2000												
135638	Y	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	X	Xq28 and Yq12	SYBL1	154764212	154826614		Muller, D. J.  et al. 2002	11840509				Synaptobrevin-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005638.3			CDC GDPinfo	6845	Hs.24167			American journal of medical genetics. 2002 Jan;114(1):74-8	Association between a polymorphism in the pseudoautosomal X-linked gene SYBL1 and bipolar affective disorder.		300053	14125	2	2002	Thus, our data strengthen the role of the SYBL1 gene as a candidate gene for BPAD	Case:164 unrelated patients with BPAD (148 patients with BP I disorder, 16 patients with BP II disorder):Germany;Control:27 controls not otherwise specified in abstract										
135639	Y	azoospermia	REPRODUCTION	REP	Oligospermia	12	12q	SYCP3	100646556	100657381		Miyamoto, T.  et al. 2003	14643120				Synaptonemal complex protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153694.3			CDC GDPinfo	50511	Hs.506504			Lancet. 2003 Nov;362(9397):1714-9	Azoospermia in patients heterozygous for a mutation in SYCP3.		604759	19739	2	2003	We suggest that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein via dominant negative interference.	Case:19 azoospermic patients with maturation arrest;Control:75 normal fertile control men										
135633		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Landi, S.  et al. 2005	16006997				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		171150	28575	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
135634	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4q13.1	SULT1E1	70741518	70760459		Choi, J. Y.  et al. 2005	15894657				Sulfotransferase family 1E, estrogen-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005420.2	Korean	Korea	CDC GDPinfo	6783	Hs.479898			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1090-5	Genetic polymorphisms of SULT1A1 and SULT1E1 and the risk and survival of breast cancer.		600043	23574	2	2005	These findings suggest that genetic polymorphisms of SULT1E1 are associated with increased risk and a disease free survival of breast cancer in Korean women.	Control:1,054 controls without history of cancer;Case:989 histologically confirmed sporadic breast cancer patients recruited from three teaching hospitals:Seoul, Korea										
135635		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	19	19q13.3	SULT2B1	53747240	53794496		Saito, T.  et al. 2004	15063762				Sulfotransferase family, cytosolic, 2B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004605.2		Japan	CDC GDPinfo	6820	Hs.369331			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		604125	28616	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
135630		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Le Marchand, L.  et al. 2005	16103451				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		171150	27845	2	2003												
135631		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	16	16p12.1	SULT1A1	28524416	28542367		Bowen, D. T.  et al. 2002	12468438				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		171150	27846	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
135632		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Sachse, C.  et al. 2002	12419832				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		England	CDC GDPinfo	6817	Hs.567342			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		171150	28429	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
135627		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367			16395669				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		171150	27229	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
135628		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Cheng, T. C.  et al. 2004	15455371				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		Taiwan	CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		171150	27230	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
135629		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Hung, R. J.  et al. 2004	15122594				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		171150	27626	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)									
135624		endoxifen	PHARMACOGENOMIC	PHARM	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Jin, Y.  et al. 2005	15632378				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Journal of the National Cancer Institute. 2005 Jan;97(1):30-9	CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment.		171150	26600	2	2005	 Interactions between CYP2D6 polymorphisms and coadministered antidepressants and other drugs that are CYP2D6 inhibitors may be associated with altered tamoxifen activity.	Cohort 80 patients with newly diagnosed breast cancer 	CYP2D6 inhibitors tamoxifen									
135625		breast cancer; thiopurine methyltransferase activity	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Hamdy, S. I.  et al. 2003	12814450				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			British journal of clinical pharmacology. 2003 Jun;55(6):560-9	Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.		171150	26601	2	2003	 We found that Egyptians resemble other Caucasians with regard to allelic frequencies of the tested variants of NAT2, GST and MDR-1. By contrast, this Egyptian population more closely resemble Africans with respect to the TPMT*3C allele, and shows a distinctly different frequency with regard to the SULT1A1*2 variant. The predominance of the slow acetylator genotype in the present study (60.50%) could not confirm a previously reported higher frequency of the slow acetylator phenotype in Egyptians (92.00%), indicating the possibility of the presence of other mutations not detectable as T341C, G590A and G857A. The purpose of our future studies is to investigate for new polymorphisms, which could be relatively unique to the Egyptian population.	Cohort 200 unrelated Egyptian subjects Egypt 										
135626		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Tiemersma, E. W.  et al. 2004	15090717				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Dutch	Netherlands	CDC GDPinfo	6817	Hs.567342			Cancer causes & control. 2004 Apr;15(3):225-36	Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population.		171150	27228	2	2004	 In this Dutch population, unfavorable meat consumption and preparation habits did not increase colorectal adenoma risk, and these associations were not influenced by relevant genetic polymorphisms.	Case:431 adenoma cases The Netherlands;Control:433 polyp-free controls	meat									
135621		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Han, D. F.  et al. 2005	16232327				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Chinese medical journal. 2005 Sep;118(18):1507-16	Polymorphisms of estrogen-metabolizing genes and breast cancer risk: a multigenic study.		171150	25606	2	2005	 This study supports the hypothesis that breast cancer can be initiated by estrogen exposure and that estrogen metabolizing genes are involved in this mechanism. This multigenic model is useful for identifying individuals who are at higher risks of breast cancer.											
135622	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Saintot, M.  et al. 2003	14520706				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1, catechol-o-methyltransferase and tobacco exposure in breast cancer risk		171150	25607	2	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
135623		ovarian cancer	CANCER	CAN	Carcinoma|Ovarian Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Sellers, T. A.  et al. 2005	16284375				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2536-43	Estrogen bioactivation, genetic polymorphisms, and ovarian cancer.		171150	26599	2	2005												
135618		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Tiemersma, E. W.  et al. 2004	14618622				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2004 Jan;108(1):97-103	Effect of SULT1A1 and NAT2 genetic polymorphism on the association between cigarette smoking and colorectal adenomas.		171150	23568	2	2004	We conclude that  smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.	Case:431 colorectal adenoma cases The Netherlands:1997 - 2000;Control:432 polyp-free controls	alcohol diet smoking (tobacco)									
135619		urothelial cancer	CANCER	CAN	Urologic Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Ozawa, S.  et al. 2002	12402313				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Japanese	Japan	CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2002 Dec;102(4):418-21	Association of genotypes of carcinogen-activating enzymes, phenol sulfotransferase SULT1A1 (ST1A3) and arylamine N-acetyltransferase NAT2, with urothelial cancer in a Japanese population.		171150	23569	2	2002	Combined analyses of different alleles of carcinogenic aromatic amine-activating phase II enzymes were applied to urothelial cancer risk for the first time and showed the highest risk combination of ST1A3 and NAT2 alleles.	Case urothelial epithelial cancer patients;Control:controls	smoking (tobacco)									
135620		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Lilla, C.  et al. 2005	15743503				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	German	Germany	CDC GDPinfo	6817	Hs.567342			Breast cancer research. 2005 ;7(2):R229-37	SULT1A1 genotype, active and passive smoking, and breast cancer risk by age 50 years in a German case-control study.		171150	23570	2	2005	 We found no evidence that the SULT1A1 genotype in itself modifies breast cancer risk associated with smoking in women up to age 50 years. In combination with NAT2 fast acetylator status, however, the SULT1A1*1/*1 genotype might increase breast cancer risk in women exposed to tobacco smoke.	Case:419 patients who had developed breast cancer by age 50:Germany;Control:884 age-matched controls	smoking (tobacco)									
135615		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Recurrence	16	16p12.1	SULT1A1	28524416	28542367		Wegman, P.  et al. 2005	15987423				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research. 2005 ;7(3):R284-90	Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients.		171150	23565	2	2005	 The present study suggests that genotype of metabolic enzymes might be useful as a guide for adjuvant endocrine treatment of postmenopausal breast cancer patients. However, results are in contradiction to prior hypotheses and the present sample size is relatively small. Findings therefore need to be confirmed in a larger cohort.		tamoxifen									
135616		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local	16	16p12.1	SULT1A1	28524416	28542367		Nowell, S. A.  et al. 2005	15952058				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research and treatment. 2005 Jun;91(3):249-58	Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients.		171150	23566	2	2005			tamoxifen									
135617		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Dandara, C.  et al. 2005	16272171				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Carcinogenesis. 2005	Gene-environment interaction: the role of SULT1A1and CYP3A5 polymorphisms as risk modifiers for squamous cell carcinoma of the esophagus.		171150	23567	2	2005			alcohol charcoal burning smoking (tobacco) wood burning									
135612		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Sillanpaa, P.  et al. 2005	16141802				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Pharmacogenetics and genomics. 2005 Oct;15(10):749-52	Sulfotransferase 1A1 genotype as a potential modifier of breast cancer risk among premenopausal women.		171150	19735	2	2005			parity									
135613		colorectal cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Carlini, E. J.  et al. 2001	11207031				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Pharmacogenetics. 2001 Feb;11(1):57-68	Sulfation pharmacogenetics: SULT1A1 and SULT1A2allele frequencies in Caucasian, Chinese and African-American subjects		171150	19736	2	2001	These observations represent a step towards determining the possible functional implications for individual variations in sulfate conjugation of common genetic polymorphisms for SULT1A1 and SULT1A2.	Cohort 242/290/70 Caucasian (n=242), Chinese (n=290) and African-American (n=70) subjects 										
135614	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Chacko, P.  et al. 2004	15604994				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Indian	India	CDC GDPinfo	6817	Hs.567342			Breast cancer (Tokyo, Japan). 2004 ;11(4):380-8	CYP17 and SULT1A1 gene polymorphisms in Indian breast cancer.		171150	23564	2	2004	 These results suggest that both CYP17 and SULT1A1 genotypes could be important determinants of breast cancer risk in Indian women and may help in early identification of high risk subjects. Such genotype analysis resulting in a high-risk profile holds considerable promise for individualizing screening, diagnosis and therapeutic intervention in breast cancer.	Control:140 healthy age-matched controls;Case:140 breast cancer cases										
135609		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Langsenlehner, U.  et al. 2004	15377847				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research and treatment. 2004 Sep;87(1):19-22	Genetic variants of the sulfotransferase 1A1 and breast cancer risk.		171150	19732	2	2004	We conclude that  the SULT1A1 R213H polymorphism is not a general risk factor for breast cancer, but may be involved in lymph node metastazing in breast cancer patients.	Case:500 women with clinically verified breast cancer;Control:500 female age-matched healthy controls										
135610		4-nitrophenol sulfation	METABOLIC	MET		16	16p12.1	SULT1A1	28524416	28542367		Rossi, A. M.  et al. 2004	15516026				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			International journal of clinical pharmacology and therapeutics. 2004 Oct;42(10):561-7	Phenotype-genotype relationships of SULT1A1 in human liver and variations in the IC50 of the SULT1A1 inhibitor quercetin		171150	19733	2	2004	These results confirm that the variation in the rate of 4-nitrophenol sulfation in human liver is mainly due to SULT1A. Since SULT1A1*1/*2 polymorphism accounts for no more than 10% of the phenotypic variation seen in this cohort, other factors must also	Cohort 50 human liver samples 										
135611		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Jerevall, P. L.  et al. 2005	16080486				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Anticancer research. 2005 May-Jun;25(3c):2515-7	Sulfotransferase1A1 and risk of postmenopausal breast cancer.		171150	19734	2	2005												
135606	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Bamber, D. E.  et al. 2001	11692076				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Pharmacogenetics. 2001 Nov;11(8):679-85	Phenol sulphotransferase SULT1A1*1 genotype is associated with reduced risk of colorectal cancer		171150	19729	2	2001	These results suggest that the high activity SULT1A1*1 allozyme protects against dietary and/or environmental chemicals involved in the pathogenesis of colorectal cancer.	Case:226 colorectal cancer patients;Control:293 previously described control patients										
135607		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Nowell, S.  et al. 2002	12419790				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Journal of the National Cancer Institute. 2002 Nov;94(21):1635-40	Association between sulfotransferase 1A1 genotype and survival of breast cancer patients receiving tamoxifen therapy.		171150	19730	2	2002	 Sulfation of 4-OH TAM provides a previously unanticipated benefit, possibly due to alterations in the bioavailability of the active metabolite or to undefined estrogen receptor-mediated events. These data alternatively suggest that variability in the metabolism of tamoxifen may affect its efficacy.	Cohort 337 women with breast cancer who received tamoxifen (n = 160) or who did not (n = 177) 	tamoxifen									
135608	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Nowell, S.  et al. 2004	14973106				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Caucasian		CDC GDPinfo	6817	Hs.567342			Cancer epidemiology, biomarkers & prevention. 2004 Feb;13(2):270-6	Association of SULT1A1 phenotype and genotype with prostate cancer risk in African-Americans and Caucasians.		171150	19731	2	2004	These results indicate that variations in SULT1A1 activity contributes to prostate cancer risk and the magnitude of the association may differ by ethnicity and be modified by meat consumption.	Control:459 control individuals matched on age and ethnicity;Case:464 prostate cancer patients	meat									
135603		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Shatalova, E. G.  et al. 2005	16280036				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research. 2005 ;7(6):R909-21	Genetic polymorphisms in human SULT1A1 and UGT1A1 genes associate with breast tumor characteristics:a case-series study.		171150	14655	2	2005	 The data suggest that genetic variation in SULT1A1 and UGT1A1 may influence breast cancer characteristics and might be important for breast cancer prognosis.											
135604		breast cancer; testosterone; estradiol	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Sparks, R.  et al. 2004	15318931				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research. 2004 ;6(5):R488-98	UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.		171150	14687	2	2004	 The risk of ER- breast cancer tumors may vary by UGT or SULT genotype. Further, plasma estradiol and testosterone concentrations in breast cancer patients may differ depending on some UGT and SULT genotypes.	Cohort 163 breast cancer patients from a population-based cohort study of women western Washington 										
135605	Y	breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Seth, P.  et al. 2000	11156380				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Cancer research. 2000 Dec;60(24):6859-63	Phenol sulfotransferases: hormonal regulation,polymorphism, and age of onset of breast cancer.		171150	19728	2	2000	no effect of SULT1A1 genotype on the risk of breast cancer, but it did influence age of onset among early-affected patients, and individuals with the *1 allele were more likely to have other tumors	Control:227:controls;Case:444 breast cancer patients										
135600	N	lung cancer; colorectal cancer; kidney cancer; liver cancer; oral cancer; cervical cancer; gastrointestinal cancer	CANCER	CAN	Neoplasms|Colonic Neoplasms|Stomach Neoplasms|Mouth Neoplasms|Lung Neoplasms|Uterine Cervical Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Peng, C. T.  et al. 2003	12469224				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Taiwanese	Taiwan	CDC GDPinfo	6817	Hs.567342			International journal of molecular medicine. 2003 Jan;11(1):85-9	The relationship among the polymorphisms of SULT1A1, 1A2 and different types of cancers in Taiwanese.		171150	14121	2	2003	No statistical significance was found for these cancer patients after comparison with normal controls (4.0%) for the allelic frequencies of SULT1A1*2 and SULT1A2*2.	Case hepatic, colon, lung, oral, gastric, renal and cervical cancer patients:Taiwan;Control normal controls										
135601		cancer; colorectal cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Kim, K. A.  et al. 2005	16133548				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Korean		CDC GDPinfo	6817	Hs.567342			European journal of clinical pharmacology. 2005 Nov;61(10):743-7	Genetic polymorphisms and linkage disequilibrium of sulfotransferase SULT1A1 and SULT1A2 in a Korean population: comparison of other ethnic groups.		171150	14122	2	2005												
135602		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Choi, J. Y.  et al. 2005	15894657				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Korean	Korea	CDC GDPinfo	6817	Hs.567342			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1090-5	Genetic polymorphisms of SULT1A1 and SULT1E1 and the risk and survival of breast cancer.		171150	14123	2	2005	These findings suggest that genetic polymorphisms of SULT1E1 are associated with increased risk and a disease free survival of breast cancer in Korean women.	Control:1,054 controls without history of cancer;Case:989 histologically confirmed sporadic breast cancer patients recruited from three teaching hospitals:Seoul, Korea										
135597	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367	0.025	Boccia, S.  et al. 2005	16137826	Arg213His	His variant has low enzyme activity	coding sequence	Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Italians		CDC GDPinfo	6817	Hs.567342			Cancer letters. 2005 Nov;229(2):235-43	Sulfotransferase 1A1 polymorphism and gastric cancer risk: a pilot case-control study.		171150	14117	2	2005	His allele may be associated with gastric cancer with tobacco modulating such effect	Hospital-based case-control study	alcohol diet smoking (tobacco)								Interaction betweem His allele and smoking	
135598		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Yang, G.  et al. 2005	16175316				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		China	CDC GDPinfo	6817	Hs.567342			Breast cancer research and treatment. 2005 Nov;94(1):63-70	Modifying Effects of Sulfotransferase 1A1 Gene Polymorphism on the Association of Breast Cancer Risk with Body Mass Index or Endogenous Steroid Hormones.		171150	14118	2	2005			body mass menopause									
135599		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367			16317586				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research and treatment. 2005	Genotypic and allelic frequencies of SULT1A1 polymorphisms in women receiving adjuvant tamoxifen therapy		171150	14120	2	2005												
135594	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Han, D. F.  et al. 2004	15093672				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Chinese	China	CDC GDPinfo	6817	Hs.567342			Toxicology letters. 2004 Apr;150(2):167-77	Sulfotransferase 1A1 (SULT1A1) polymorphism and breast cancer risk in Chinese women.		171150	14113	2	2004	 Our findings suggest that the SULT1A1 His allele was positively associated with the risk of breast cancer in Chinese women. And there was interaction between SULT1A1 polymorphism and related exposure factors.	Case:213 Chinese breast cancer cases;Control:430 matched controls										
135595		cancer	CANCER	CAN	Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Pereira, W. O.  et al. 2005	15949571				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Cancer genetics and cytogenetics. 2005 Jul;160(1):55-60	Genetic polymorphism in the sulfotransferase SULT1A1 gene in cancer.		171150	14115	2	2005												
135596		enzyme activity	METABOLIC	MET		16	16p12.1	SULT1A1	28524416	28542367		Ning, B.  et al. 2005	15970794				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Pharmacogenetics and genomics. 2005 Jul;15(7):465-73	Common genetic polymorphisms in the 5'-flanking region of the SULT1A1 gene: haplotypes and theirassociation with platelet enzymatic activity.		171150	14116	2	2005												
135591	Y	breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Han, D. F.  et al. 2003	14642079				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Chinese	China	CDC GDPinfo	6817	Hs.567342			Zhonghua yi xue za zhi. 2003 Oct;83(20):1759-63	[The association of sulfotransferase1A1 His allele and breast cancer in Han ethnic Chinese women]		171150	14110	2	2003	 SULT1A1 His allele is positively associated with the risk of breast cancer, and an interaction exist between this allele and related exposure factors.	Case:209 breast cancer cases;Control:426 matched healthy controls	diet estrogen									
135592	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Zheng, L.  et al. 2003	14643027				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Cancer letters. 2003 Dec;202(1):61-9	Sulfotransferase 1A1 (SULT1A1) polymorphism and bladder cancer risk: a case-control study.		171150	14111	2	2003	In conclusion, this study provides epidemiologic evidence of a reduced bladder cancer risk associated with the SULT1A1 His(213) polymorphism. Further studies are warranted to elucidate the function of this SULT1A1 polymorphism with regard to organ specificity, gene-environment interactions, and the gender-related difference we observed.	Case:384 incident bladder cancer patients;Control:386 healthy frequency-matched controls	smoking (tobacco)									
135593	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Liang, G.  et al. 2003	14688021	(G638A)			Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Carcinogenesis. 2004 May;25(5):773-8	A functional polymorphism in the SULT1A1 gene (G638A) is associated with risk of lung cancer in relation to tobacco smoking.		171150	14112	2	2003	Our results, which are against the original hypothesis, demonstrate that the variant SULT1A1 638A allele is associated with susceptibility to lung cancer in relation to tobacco smoking.	Case:805 patients with lung cancer from a hospital based, case-control study;Control:809 controls from a hospital based, case-control study	smoking (tobacco)									
135588	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Wong, C. F.  et al. 2002	12165038				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Australian		CDC GDPinfo	6817	Hs.567342			Clinical and experimental pharmacology & physiology. 2002 Sep;29(9):754-8	Association of the SULT1A1 R213H polymorphism with colorectal cancer.		171150	14106	2	2002	We conclude that  the SULT1A1 R213H polymorphism is not linked with colorectal cancer in this elderly Australian population.	Case:383 elderly patients with histologically proven colorectal cancer:Australia;Control:402 control subjects										
135589	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Wu, M. T.  et al. 2003	12455060				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2003 Jan;103(1):101-4	SULT1A1 polymorphism and esophageal cancer in males.		171150	14107	2	2003	Our findings suggest that the SULT1A1 his(213) allele is important in the development of esophageal cancer in men.	Case:187 cases of esophageal squamous cell carcinoma:Taiwan;Control:308:controls	alcohol areca smoking (tobacco)									
135590	Y	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Tang, D.  et al. 2003	12725421				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Breast cancer research and treatment. 2003 Mar;78(2):217-22	Sulfotransferase 1A1 (SULT1A1) polymorphism, PAH-DNA adduct levels in breast tissue and breast cancer risk in a case-control study		171150	14108	2	2003	Our findings are consistent with a prior report that the Arg/His polymorphism in SULT1A1 is associated with breast cancer risk.	Case breast cancer cases;Control women visiting NYPMC for routine gynecologic checkups (healthy controls) and BBD controls (benign tissue)										
135585	Y	breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Nowell S et al. 2002	12419790				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			KGB	6817	Hs.567342	tamoxifen therapy		Journal of the National Cancer Institute. 2002 Nov;94(21):1635-40	Association between sulfotransferase 1A1 genotype and survival of breast cancer patients receiving tamoxifen therapy.		171150	5675	1	2002	 Sulfation of 4-OH TAM provides a previously unanticipated benefit, possibly due to alterations in the bioavailability of the active metabolite or to undefined estrogen receptor-mediated events. These data alternatively suggest that variability in the metabolism of tamoxifen may affect its efficacy.	Cohort 337 women with breast cancer who received tamoxifen (n = 160) or who did not (n = 177)	tamoxifen									
135586	Y	breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Zheng, W.  et al. 2001	11219777				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		Iowa	CDC GDPinfo	6817	Hs.567342			Cancer epidemiology, biomarkers & prevention. 2001 Feb;10(2):89-94	Sulfotransferase 1A1 polymorphism, endogenous estrogen exposure, well-done meat intake, and breast cancer risk		171150	14104	2	2001	The results from this study suggest that homozygosity for the SULT1A1 His213 allele may be a risk factor for breast cancer, and its effect may be modified by the exposure level of endogenous estrogens and heterocyclic amines.	Case:156 postmenopausal Iowa women with breast cancer;Control:332 postmenopausal Iowa women without cancer	estrogen meat doneness									
135587	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Wang, Y.  et al. 2002	11804685				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDPinfo	6817	Hs.567342			Lung cancer (Amsterdam, Netherlands). 2002 Feb;35(2):137-42	Sulfotransferase (SULT) 1A1 polymorphism as a predisposition factor for lung cancer: acase-control analysis.		171150	14105	2	2002	Our results support the hypothesis that a genetic polymorphism in the SULT1A1 gene may be associated with increased lung cancer risk.	Case:463 Caucasian lung cancer cases;Control:485 frequency matched Caucasian controls	smoking (tobacco)									
135582	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Saintot M 2003	14520706	Arg213His SULT1A1		coding sequence	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			KGB	6817	Hs.567342	smoking		International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1~~~ catechol-o-methyltransferase and tobacco exposure in breast cancer risk.		171150	5672	1	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
135583		smoking	CANCER	CAN	Adenoma|Colorectal Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Tiemersma EW 2004	14618622				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Dutch		KGB	6817	Hs.567342			International journal of cancer. Journal international du cancer. 2004 Jan;108(1):97-103	Effect of SULT1A1 and NAT2 genetic polymorphism on the association between cigarette smoking and colorectal adenomas.		171150	5673	1	2004	We conclude that  smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.	Case:431 colorectal adenoma cases The Netherlands:1997 - 2000;Control:432 polyp-free controls	alcohol diet smoking (tobacco)									
135584	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Han DF 2004	15093672	Arg/His codon 213			sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		China	KGB	6817	Hs.567342			Toxicology letters. 2004 Apr;150(2):167-77	Sulfotransferase 1A1 (SULT1A1) polymorphism and breast cancer risk in Chinese women.		171150	5674	1	2004	 Our findings suggest that the SULT1A1 His allele was positively associated with the risk of breast cancer in Chinese women. And there was interaction between SULT1A1 polymorphism and related exposure factors.	Case:213 Chinese breast cancer cases;Control:430 matched controls										
135579		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis	20	20q13.2-q13.3	STK6	54377852	54400758		Sun, T.  et al. 2004	15271856	Phe31Ile			Serine/threonine kinase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433			CDC GDPinfo	6790	Hs.250822			Carcinogenesis. 2004 Nov;25(11):2225-30	Functional Phe31Ile polymorphism in Aurora A and risk of breast carcinoma.		602687	14101	2	2004	No significant association was observed between the polymorphism and metastasis and disease stage of the cancer. These findings suggest that the Phe31Ile polymorphism in Aurora A may be a genetic modifier for developing breast carcinoma.	Control:520:controls;Case:520/191 breast carcinoma patients (n=520) and patients with benign breast diseases (n=191)										
135580	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q11.23	STX1A	72751475	72771924		Tsunoda, K.  et al. 2001	11719842				Syntaxin 1A (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC064644			CDC GDPinfo	6804	Hs.488683			Diabetologia. 2001 Nov;44(11):2092-7	Single nucleotide polymorphism (D68D, T to C) in the syntaxin 1A gene correlates to age at onset and insulin requirement in Type II diabetic patients		186590	14102	2	2001	These data indicate that the SNP in the syntaxin 1A gene (D68D, T to C) correlates to the age of onset and insulin requirements of Type II diabetic	Control:181:non-diabetics;Case:182 Japanese type 2 diabetics										
135581	Y	sulfotransferases enzyme activity	METABOLIC	MET		16	16p12.1	SULT1A1	28524416	28542367		Engelke CE et al. 2000	10762004	SULT1A1*Arg and SULT1A2*Asn) high; SULT1A1*His and SULT1A2*Thr, low			sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			KGB	6817	Hs.567342			Pharmacogenetics. 2000 Mar;10(2):163-9	Association between functional genetic polymorphisms of human sulfotransferases 1A1 and 1A2.		171150	5671	1	2000												
135576		Peutz-Jeghers syndrome	DEVELOPMENTAL	DEV	Peutz-Jeghers Syndrome	19	19p13.3	STK11	1156797	1179434		Amos, C. I.  et al. 2004	15121768				Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			CDC GDPinfo	6794	Hs.515005			Journal of medical genetics. 2004 May;41(5):327-33	Genotype-phenotype correlations in Peutz-Jeghers syndrome.		602216	19725	2	2004	 STK11 mutation analysis should be restricted to individuals who meet PJS criteria or their close relatives. Direct sequencing of STK11 yields a high rate of point mutations in individuals who meet phenotypic PJS criteria. Individuals with missense mutations of STK11 typically had a later time to onset for PJS symptoms. The common occurrence of gastric polyps may facilitate chemopreventive studies for this disorder.	Cohort 42 independent Peutz-Jeghers syndrome probands Cohort 51 individuals with Peutz-Jeghers syndrome who had completed self-administered questionnaires from a historical cohort 										
135577	Y	Peutz-Jeghers syndrome	DEVELOPMENTAL	DEV	Breast Neoplasms|Gastrointestinal Neoplasms|Pancreatic Neoplasms|Genetic Predisposition to Disease	19	19p13.3	STK11	1156797	1179434		Lim, W.  et al. 2004	15188174				Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			CDC GDPinfo	6794	Hs.515005			Gastroenterology. 2004 Jun;126(7):1788-94	Relative frequency and morphology of cancers in STK11 mutation carriers.		602216	19726	2	2004	 These results quantitatively show the spectrum of cancer risk associated with STK11 germline mutations in the context of PJS and provide a valuable reference for defining surveillance regimens.	Cohort 240 individuals with Peutz-Jeghers syndrome 										
135578	N	pancreatic cancer	CANCER	CAN	Carcinoma|Pancreatic Neoplasms|Genetic Predisposition to Disease	19	19p13.3	STK11	1156797	1179434		Grutzmann, R.  et al. 2004	15331174				Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			CDC GDPinfo	6794	Hs.515005			Cancer letters. 2004 Oct;214(1):63-8	No evidence for germline mutations of the LKB1/STK11 gene in familial pancreatic carcinoma.		602216	19727	2	2004	No germline mutation was found within the complete coding region. Therefore, our results indicate that LKB1/STK11 is not altered in the germline of patients with hereditary pancreatic cancer.	Cohort 39 indix patients from European familial pancreatic carcinoma families 										
135572	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	21	21q11.1	STCH	14665307	14677380		Aoki, M.  et al. 2005	16087163				Stress 70 protein chaperone, microsome-associated, 60kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006948.4	Japanese	Japan	CDC GDPinfo	6782	Hs.352341			Biochemical and biophysical research communications. 2005 Sep;335(2):566-74	A genetic variant in the gene encoding the stress70 protein chaperone family member STCH is associated with gastric cancer in the Japanese population.		601100	19724	2	2005												
135573		Alzheimer's disease; asthma	METABOLIC	MET		11	11p15.5	STIM1	3833508	4071015			14582397				Stromal interaction molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003156.2			CDC GDPinfo	6786	Hs.501735			Genetika. 2003 Sep;39(9):1268-74	[Polymorphism of genes for xenobiotic metabolism in petrochemical workers]		605921	25604	2	2003	There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, in the corresponding industrial subgroup a clear trend towards lower frequency of rapid acetylators was demonstrated. In addition, the odds ratio of the disease development for the workers with slow acetylator phenotype was 1.7.	Control:controls;Case petrochemical workers occupationally exposed to adverse action of chemical compounds	petrochemicals									
135575	Y	Peutz-Jegher's syndrome	DEVELOPMENTAL	DEV	Adenocarcinoma|Sex Cord-Gonadal Stromal Tumors|Ovarian Neoplasms|Genital Neoplasms, Female|Uterine Cervical Neoplasms|Peutz-Jeghers Syndrome	19	19p13.3	STK11	1156797	1179434		Connolly DC et al. 2000	10623683				serine/threonine kinase 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			KGB	6794	Hs.515005			The American journal of pathology. 2000 Jan;156(1):339-45	Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.		602216	5670	1	2000												
135569		asthma	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428		Pykalainen, M.  et al. 2005	15637551				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Finland	CDC GDPinfo	6778	Hs.524518			The Journal of allergy and clinical immunology. 2005 Jan;115(1):80-7	Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes		601512	25603	2	2005	 We identified a panel of novel SNPs in genes coding for proteins important in the T H 1/T H 2 cell differentiation. SNPs of the GATA3 gene showed an initial association to asthma-related phenotypes. Elucidation of the importance of the identified panel of SNPs in other T H 1/T H 2 mediated diseases will be of great interest.	Case:245 asthmatic patients;Control:405 population-based controls										
135570		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Barton, A.  et al. 2002	11981324				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDPinfo	6778	Hs.524518			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		601512	28574	2	2002	Review article											
135571	Y	obesity	METABOLIC	MET	Obesity	21	21q11.1	STCH	14665307	14677380		Chouchane, L.  et al. 2001	11319647				Stress 70 protein chaperone, microsome-associated, 60kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006948.4	Tunisian		CDC GDPinfo	6782	Hs.352341			International journal of obesity and related metabolic disorders. 2001 Apr;25(4):462-6	Genetic variation in the stress protein hsp70-2 gene is highly associated with obesity.		601100	19723	2	2001	 Tunisian persons carrying the P2/P2 genotype of the hsp70-2 gene may have an increased risk of obesity.	Control:174 healthy control subjects;Case:343 patients with obesity										
135566		nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Hypersensitivity|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Acharya, B.  et al. 2005	15687724				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Indonesia	CDC GDPinfo	6778	Hs.524518			American journal of nephrology. 2005 Jan-Feb;25(1):30-5	Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.		601512	25600	2	2005	 The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS.	Control:61 controls with neigher allergic nor renal disease;Case:84 Indonesian children with minimal change nephrotic:syndrome										
135567	Y	minimal change nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Nephrotic Syndrome|Hypersensitivity|Disease Progression|Genetic Predisposition to Disease|Recurrence	12	12q13	STAT6	55775459	55791428		Kobayashi, Y.  et al. 2003	12900808				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Japanese	Japan	CDC GDPinfo	6778	Hs.524518			American journal of kidney diseases. 2003 Aug;42(2):271-6	Polymorphisms of interleukin-4--related genes in Japanese children with minimal change nephrotic syndrome.		601512	25601	2	2003	 These results suggest that genetic variations in the IL-4 and STAT6 genes may be associated with predisposition to MCNS, partially the clinical course of MCNS.	Case:58 Japanese children with minimal change nephrotic:syndrome;Control:63 healthy controls with neither allergic nor renal:disease										
135568		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Confusion|Pain, Intractable|Nausea	12	12q13	STAT6	55775459	55791428		Ross, J. R.  et al. 2005	16103897				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDPinfo	6778	Hs.524518			The pharmacogenomics journal. 2005 ;5(5):324-36	Clinical response to morphine in cancer patients and genetic variation in candidate genes.		601512	25602	2	2005												
135563		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Klein, W.  et al. 2005	15888279	G2964A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDPinfo	6778	Hs.524518			Digestive and liver disease. 2005 Mar;37(3):159-61	The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease.		601512	14100	2	2005	 Alterations in the STAT6 pathway may play a crucial role in the pathogenesis of distinct subgroups of patients with Crohn's disease.	Case:243/100 patients with Crohn's disease (n=248) and ulcerative colitis (n=100);Control:548 healthy controls										
135564		ascaris infection	INFECTION	INF	Ascariasis|Asthma|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Peisong, G.  et al. 2004	14735150				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		China	CDC GDPinfo	6778	Hs.524518			Genes and immunity. 2004 Jan;5(1):58-62	An asthma-associated genetic variant of STAT6 predicts low burden of ascaris worm infestation		601512	19720	2	2004	The evolution of enhanced resistance to parasitic worm infection, through human genetic variation in Th-2 immune signalling, may represent one origin for asthma.	Cohort 614 schoolchildren from an area of endemic ascaris infection China 										
135565	Y	atopy; IgE levels	IMMUNE	IMM	Hypersensitivity	12	12q13	STAT6	55775459	55791428		Weidinger, S.  et al. 2004	15342695				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Germany	CDC GDPinfo	6778	Hs.524518			Journal of medical genetics. 2004 Sep;41(9):658-63	Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults.		601512	19721	2	2004	 The data indicate that genetic variants within STAT6 contribute significantly to IgE regulation and manifestation of atopic diseases.	Cohort 1,407 German adults 										
135560	Y	nut allergy	IMMUNE	IMM	Nut Hypersensitivity|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Amoli, M. M.  et al. 2002	12058257				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDPinfo	6778	Hs.524518			Genes and immunity. 2002 Jun;3(4):220-4	Polymorphism in the STAT6 gene encodes risk for nut allergy.		601512	14095	2	2002	We conclude that  STAT6 3'UTR polymorphism is associated with susceptibility and severity in nut allergic patients in our population.	Control:45/184 atopic patients without nut allergy (n=45) and healthy controls (n=184);Case:71 Caucasoid patients diagnosed with nut allergy:Britain										
135561	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Xia, B.  et al. 2003	12605697	G2964A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDPinfo	6778	Hs.524518			Clinical and experimental immunology. 2003 Mar;131(3):446-50	Signal transducer and activator of transcription 6 gene G2964A polymorphism and inflammatory bowel disease.		601512	14096	2	2003	The STAT6 G2964A gene polymorphism is not involved in the overall susceptibility or in determining the phenotype of IBD.	Control:173 healthy individuals;Case:183/141 urelated Dutch Caucasian patients with Crohn's disease (n=183) and ulcerative colitis (n=141)										
135562	Y	asthma; dermatitis and eczema; anaphylaxis, food-related	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Hypersensitivity, Immediate|Anaphylaxis|Food Hypersensitivity|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Tamura, K.  et al. 2003	12759487				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Japanese	Japan	CDC GDPinfo	6778	Hs.524518			International archives of allergy and immunology. 2003 May;131(1):33-8	Linkage and association studies of STAT6 gene polymorphisms and allergic diseases.		601512	14097	2	2003	 Our findings indicate that in combination the dinucleotide repeat polymorphism of the STAT6 exon 1 gene and the 2964A variant may be useful markers for predicting allergic diseases in a Japanese population.	Case:106 allergic subjects:Japan;Control:66:controls										
135556	Y	Total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.007	Duetsch G 2002	11912176	C1570-->T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5665	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135557	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A4703G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5666	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135558	Y	Allergic diseases (bronchial asthma. atopic dermatitis and/or food-related anaphylaxis)	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Hypersensitivity|Anaphylaxis	12	12q13	STAT6	55775459	55791428	P = 0.0002	Tamura K 2001	11678849	GT repeat in Exon 1			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Japanese	Japan	KCB	6778	Hs.524518			Clinical and experimental allergy. 2001 Oct;31(10):1509-14			601512	5667	1	2001	 This suggests that genetic variation in the STAT-6 gene may be associated with predisposition to allergic diseases.											
135552	Y	Total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.020	Duetsch G 2002	11912176	C6613T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5661	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135553	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A4491G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5662	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135555	Y	allergic diseases	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Hypersensitivity, Immediate|Anaphylaxis|Food Hypersensitivity|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Tamura K et al. 2003	12759487				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Japan	KGB	6778	Hs.524518			International archives of allergy and immunology. 2003 May;131(1):33-8	Linkage and association studies of STAT6 gene polymorphisms and allergic diseases.		601512	5664	1	2003	 Our findings indicate that in combination the dinucleotide repeat polymorphism of the STAT6 exon 1 gene and the 2964A variant may be useful markers for predicting allergic diseases in a Japanese population.	Case:106 allergic subjects:Japan;Control:66:controls										
135548	Y	Total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.026	Duetsch G 2002	11912176	A1309G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5657	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135549	Y	Allergic diseases	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Hypersensitivity|Anaphylaxis	12	12q13	STAT6	55775459	55791428	P= 0.0002	Tamura K 2001	11678849	GT repeat in Exon1			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Japan	KCB	6778	Hs.524518			Clinical and experimental allergy. 2001 Oct;31(10):1509-14			601512	5658	1	2001	 This suggests that genetic variation in the STAT-6 gene may be associated with predisposition to allergic diseases.											
135550	Y	total serum IgE levels	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=<0.05	Duetsch G 2002	11912176	C6613T. A1309G. C1570-->T. A4671G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5659	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135544	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	C5021T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5653	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135545	Y	eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.001	Duetsch G 2002	11912176	GT repeat in Exon 1			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5654	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135546	Y	eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.001	Duetsch G 2002	11912176	GT repeat in Exon 1			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5655	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135540	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	G4219A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5649	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135541		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Gao PS 2000	10905892	G2964A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Japanese	Japan|England	KCB	6778	Hs.524518			Journal of medical genetics. 2000 May;37(5):380-2			601512	5650	1	2000												
135542		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Gao PS 2000	10905892	G2964A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		Japan|England	KCB	6778	Hs.524518			Journal of medical genetics. 2000 May;37(5):380-2			601512	5651	1	2000												
135543	N	Asthma. DRS. eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A1309G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5652	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135536	N	Asthma. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A4610G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5645	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135537	N	Asthma	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A763C			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5646	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135538	N	Asthma. DRS	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	GT repeat in Exon 1			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5647	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135532	N	Asthma. DRS. eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	A4671G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5641	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135533	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	C2438T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5642	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135535	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	C5814T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5644	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135529	Y	asthma	IMMUNE	IMM	Asthma	2	2q32.2-q32.3	STAT4	191602550	191724539		Park, B. L.  et al. 2005	15744455				Signal transducer and activator of transcription 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003151.2		Korea	CDC GDPinfo	6775	Hs.80642			Journal of human genetics. 2005 ;50(3):133-8	Association analysis of signal transducer and activator of transcription 4 (STAT4) polymorphisms with asthma.		600558	14094	2	2005	Our findings suggest that polymorphisms in STAT4 might be one of the genetic factors for the risk of production of specific IgE to mite allergens.	Control:164 normal controls;Case:502:asthmatics										
135530		asthma	IMMUNE	IMM	Asthma	2	2q32.2-q32.3	STAT4	191602550	191724539		Pykalainen, M.  et al. 2005	15637551				Signal transducer and activator of transcription 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003151.2		Finland	CDC GDPinfo	6775	Hs.80642			The Journal of allergy and clinical immunology. 2005 Jan;115(1):80-7	Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes		600558	23562	2	2005	 We identified a panel of novel SNPs in genes coding for proteins important in the T H 1/T H 2 cell differentiation. SNPs of the GATA3 gene showed an initial association to asthma-related phenotypes. Elucidation of the importance of the identified panel of SNPs in other T H 1/T H 2 mediated diseases will be of great interest.	Case:245 asthmatic patients;Control:405 population-based controls										
135531		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	17	17q11.2	STAT5A	37693090	37717484		Saito, T.  et al. 2004	15063762				Signal transducer and activator of transcription 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003152.2		Japan	CDC GDPinfo	6776	Hs.437058			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		601511	28610	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
135526		tuberculosis	INFECTION	INF	Tuberculosis|Disease Susceptibility	2	2q32.2	STAT1	191542120	191587181		Park, G. Y.  et al. 2004	15527154				Signal transducer and activator of transcription 1, 91kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007315.2			CDC GDPinfo	6772	Hs.470943			The international journal of tuberculosis and lung disease. 2004 Oct;8(10):1221-7	Functional and genetic assessment of IFN-gamma receptor in patients with clinical tuberculosis.		600555	23561	2	2004	 These results suggest that impairment of the IFN-gamma signalling pathway did not account for cases of clinical TB in this study.	Control:controls;Case:18 patients with disseminated TB										
135527		hepatitis B	INFECTION	INF	Hepatitis B	2	2q32.2	STAT1	191542120	191587181		King, J. K.  et al. 2002	12447867				Signal transducer and activator of transcription 1, 91kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007315.2			CDC GDPinfo	6772	Hs.470943			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		600555	28261	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
135528	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q21.31	STAT3	37718868	37794039		Litonjua, A. A.  et al. 2005	15935090				Signal transducer and activator of transcription 3 (acute-phase response factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139276.2			CDC GDPinfo	6774	Hs.463059			Respiratory research. 2005 Jun;6(1):52	Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthma.		102582	14093	2	2005	 Our results indicate that genetic variants in STAT3, independent of asthma treatment, are determinants of FEV1 in both adults and children with asthma, and suggest that STAT3 may participate in inflammatory pathways that have an impact on level of lung function.	Cohort 401 Caucasian adult asthmatics Cohort 652 Caucasian children with asthma 										
135522	Y	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	16	16p13.3	SSTR5	1068869	1069964		Nyegaard, M.  et al. 2002	12192619				Somatostatin receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001053.1			CDC GDPinfo	6755	Hs.449840			Molecular psychiatry. 2002 ;7(7):745-54	Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder		182455	14091	2	2002	Our results may indicate that the SSTR5 gene is involved in the etiology of BPAD or may exist in linkage disequilibrium with a susceptibility gene close to SSTR5. However, given the marginal statistical significance and the potential for false-positive results in association studies with candidate genes, further studies are needed to clarify this hypothesis.	Control:144/88 controls of Danish cases (n=144) and controls of British cases (n=88);Case:80/55 Danish cases (n=80) and British cases (n=55) of bipolar affective disorder										
135523		acromegaly	UNKNOWN	UNK	Acromegaly	16	16p13.3	SSTR5	1068869	1069964		Filopanti, M.  et al. 2005	15914528				Somatostatin receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001053.1			CDC GDPinfo	6755	Hs.449840			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4824-8	Analysis of somatostatin receptors 2 and 5 polymorphisms in patients with acromegaly.		182455	23559	2	2005	 These data suggest a role for SSTR5 t-461c and c1004t alleles in influencing GH and IGF-I levels in patients with acromegaly, whereas SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs.	Control:66 healthy controls;Case:66 acromegalic patients with different responsiveness to somatostatin analogs	somatostatin									
135524		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p13.3	SSTR5	1068869	1069964			16214911				Somatostatin receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001053.1		Europe	CDC GDPinfo	6755	Hs.449840			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182455	28195	2	2005												
135519		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q13.1	SSTR3	35932190	35938299			16214911				Somatostatin receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001051.2		Europe	CDC GDPinfo	6753	Hs.225995			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182453	27999	2	2005												
135520		breast cancer	CANCER	CAN	Breast Neoplasms	20	20p11.2	SSTR4	22964120	22965287			16214911				Somatostatin receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001052.1		Europe	CDC GDPinfo	6754	Hs.121341			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182454	28112	2	2005												
135521	Y	bipolar affective disorder.	PSYCH	PSY	Bipolar Disorder	16	16p13.3	SSTR5	1068869	1069964		Nyegaard M et al. 2002	12192619				Somatostatin receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001053.1			KGB	6755	Hs.449840			Molecular psychiatry. 2002 ;7(7):745-54	Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder.		182455	5639	1	2002	Our results may indicate that the SSTR5 gene is involved in the etiology of BPAD or may exist in linkage disequilibrium with a susceptibility gene close to SSTR5. However, given the marginal statistical significance and the potential for false-positive results in association studies with candidate genes, further studies are needed to clarify this hypothesis.	Control:144/88 controls of Danish cases (n=144) and controls of British cases (n=88);Case:80/55 Danish cases (n=80) and British cases (n=55) of bipolar affective disorder										
135515		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q13	SSTR1	37746954	37752019			16214911				Somatostatin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001049.2		Europe	CDC GDPinfo	6751	Hs.248160			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182451	27625	2	2005												
135516	Y	neuroblastoma	CANCER	CAN	Neuroblastoma|Chromosome Aberrations	17	17q24	SSTR2	68672754	68679657		Abel F et al. 1999	10604740				Somatostatin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001050.2			KGB	6752	Hs.514451	unfavorable prognosis		British journal of cancer. 1999 Dec;81(8):1402-9	Gain of chromosome arm 17q is associated with unfavourable prognosis in neuroblastoma but does not involve mutations in the somatostatin receptor 2(SSTR2) gene at 17q24.		182452	5638	1	1999												
135517		acromegaly	UNKNOWN	UNK	Acromegaly	17	17q24	SSTR2	68672754	68679657		Filopanti, M.  et al. 2005	15914528				Somatostatin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001050.2			CDC GDPinfo	6752	Hs.514451			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4824-8	Analysis of somatostatin receptors 2 and 5 polymorphisms in patients with acromegaly.		182452	14090	2	2005	 These data suggest a role for SSTR5 t-461c and c1004t alleles in influencing GH and IGF-I levels in patients with acromegaly, whereas SSTR2 and SSTR5 variants seem to have a minor role in determining the responsiveness to somatostatin analogs.	Control:66 healthy controls;Case:66 acromegalic patients with different responsiveness to somatostatin analogs	somatostatin									
135518		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q24	SSTR2	68672754	68679657			16214911				Somatostatin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001050.2		Europe	CDC GDPinfo	6752	Hs.514451			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182452	27844	2	2005												
135512		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	12	12p11.2	SSPN	26239539	26297088		Matsuzoe, D.  et al. 2001	11470766				Sarcospan (Kras oncogene-associated gene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005086.3			CDC GDPinfo	8082	Hs.183428			Carcinogenesis. 2001 Aug;22(8):1327-30	Glutathione S-transferase mu1 null genotype is associated with K-ras gene mutation in lung adenocarcinoma among smokers		601599	23558	2	2001	These findings suggest that the cause of K-ras gene mutation in smokers with lung adenocarcinoma may be in part an accumulation of BP diol epoxide which is not well detoxified in individuals with the GSTM1 null genotype.	Case:312 193 adenocarcinomas and 119 squamous cell carcinomas of lung	smoking (tobacco)									
135513		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	12	12p11.2	SSPN	26239539	26297088		Noda, N.  et al. 2004	15375499				Sarcospan (Kras oncogene-associated gene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005086.3			CDC GDPinfo	8082	Hs.183428			Oncology reports. 2004 Oct;12(4):773-9	Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms.		601599	25599	2	2004	In conclusion, these findings suggest that K-ras mutations in smokers with lung adenocarcinoma may be due in part to accumulation of carcinogens, which is not adequately detoxified in individuals with certain CYP1A1 genotypes and the GSTM1(-) genotype.	Cohort 167/246 patients with lung squamous cell carcinoma (n=167) and lung adenocarcinoma (n=246) 	smoking (tobacco)									
135514		breast cancer	CANCER	CAN	Breast Neoplasms	3	3q28	SST	188869387	188870895			16214911				Somatostatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001048.3		Europe	CDC GDPinfo	6750	Hs.12409			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		182450	27227	2	2005												
135508		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	22	22q13	SREBF2	40559051	40633255		Fiegenbaum, M.  et al. 2005	16158080				Sterol regulatory element binding transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004599.2			CDC GDPinfo	6721	Hs.443258			The pharmacogenomics journal. 2005 ;5(6):359-64	Determinants of variable response to simvastatin treatment: the role of common variants of SCAP,SREBF-1a and SREBF-2 genes.		600481	23557	2	2005			simvastatin									
135509	Y	Swyer syndrome	DEVELOPMENTAL	DEV	Gonadal Dysgenesis, 46,XY	Y	Yp11.3	SRY	2714895	2715792		Battiloro E et al. 1997	9341876				Sex determining region Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003140.1			KGB	6736	Hs.1992			Human genetics. 1997 Oct;100(6-May):585-7	A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.		480000	5634	1	1997	We conclude that  the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal.											
135511		gastritis	OTHER	OTH	Helicobacter Infections|Stomach Neoplasms|Gastritis|Chronic Disease	12	12p11.2	SSPN	26239539	26297088		Hiyama, T.  et al. 2002	11807778				Sarcospan (Kras oncogene-associated gene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005086.3			CDC GDPinfo	8082	Hs.183428			International journal of cancer. Journal international du cancer. 2002 Feb;97(5):562-6	K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer.		601599	19716	2	2002	These data suggest that the genetic mechanism(s) of carcinogenesis differs between the differentiated type and the undifferentiated type of gastric cancer and that K-ras mutations may be involved in the early stages of gastric carcinogenesis of the differentiated type.	Control:30 H. pylori-negative healthy subjects;Case:64 gastric cancer patients with H. pylori-CG;Control:99 cancer-free H. pylori-CG patients	Helicobacter pylori									
135505	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemias	22	22q13	SREBF2	40559051	40633255		Duan, X.  et al. 2004	15211801				Sterol regulatory element binding transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004599.2	Chinese	China	CDC GDPinfo	6721	Hs.443258			Wei sheng yan jiu. 2004 May;33(3):314-6, 320	[Relations between polymorphism of sterol regulatory element binding protein-2 gene and hyperlipidemia in the Han ethics of China]		600481	14087	2	2004	 The study indicated that 1784GC/CC genotypes of SREBP-2 were significantly related with the elevated concentrations of serum TC and LDL-C in hypercholesterolemic subjects, and further work is necessary to confirm the role of 1784G > C polymorphism of SREBP-2 gene in the development of hyperlipidemia.	Control:164 unrelated normolipidemic individuals;Case:322 unrelated hyperlipidemic individuals Beijing City, China										
135506	Y	cholesterol; hypercholesterolemia; cholesterol, LDL; hypertriglyceridemia	METABOLIC	MET	Hypercholesterolemia	22	22q13	SREBF2	40559051	40633255		Duan, X.  et al. 2004	15547298				Sterol regulatory element binding transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004599.2	Chinese	China	CDC GDPinfo	6721	Hs.443258			Journal of lipid research. 2005 Feb;46(2):252-7	The effect of sterol regulatory element-binding protein 2 polymorphism on the serum lipid in northern Chinese subjects.		600481	14088	2	2004	The study indicates that SREBP-2 polymorphism can be related with the elevated concentrations of serum TC and LDL-C in hypercholesterolemic subjects, and further work is necessary to confirm the role of 1784G>C polymorphism of SREBP-2 gene in the development of hyperlipidemia.	Control normal subjects;Case hypercholesterolemic subjects, hypertriglyceridemic subjects, and combined hyperlipidemic subjects Xicheng District of Beijing										
135507		dementia, vascular	PSYCH	PSY	Dementia, Vascular|Genetic Predisposition to Disease	22	22q13	SREBF2	40559051	40633255		Kim, Y.  et al. 2005	16082694				Sterol regulatory element binding transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004599.2			CDC GDPinfo	6721	Hs.443258			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):19-22	Analysis of the SREBF2 gene as a genetic risk factor for vascular dementia.		600481	19714	2	2005												
135502		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Klotsman, M.  et al. 2004	15136785				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The pharmacogenomics journal. 2004 ;4(4):251-9	A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH.		607306	26597	2	2004	The process(es) in which these silent single-nucleotide polymorphisms (SNPs) influence BPH phenotypes is unknown and additional studies will be needed to assess whether these SNPs have direct functional consequences. The characterization of additional molecular factors that contribute to static and dynamic obstruction may help predict response to pharmacotherapy and serve to identify novel drug targets for the clinical management of BPH.	Cohort men with a clinical diagnosis of benign prostatic hyperplasia 										
135503		breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Hefler, L. A.  et al. 2004	15241822				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		607306	27624	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
135504		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Nam, R. K.  et al. 2003	14693733				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		607306	28111	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
135499	Y	hypospadias	DEVELOPMENTAL	DEV	Hypospadias	2	2p23	SRD5A2	31603159	31659544		Wang, Y.  et al. 2004	15266301				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Chinese	China	CDC GDPinfo	6716	Hs.458345			European journal of human genetics. 2004 Sep;12(9):706-12	Mutation analysis of five candidate genes in Chinese patients with hypospadias.		607306	25598	2	2004	In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.	Control:controls;Case:90 Chinese hypospadias patients										
135500		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent	2	2p23	SRD5A2	31603159	31659544		Latil, A. G.  et al. 2001	11571725				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	French		CDC GDPinfo	6716	Hs.458345			Cancer. 2001 Sep;92(5):1130-7	Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways.		607306	26595	2	2001	 The association between the 171-bp allele of CYP19 and prostate carcinoma risk suggests that aromatase could be used as a new indicator for prostate carcinoma prevention in men of White French ethnogeographic origin. Conversely, it is possible that an individual carries both a high- and a low-risk marker (e.g., CYP17 A2 allele and V89L in SRD5A2) resulting in no overall difference in risk observed across the population. For these reasons, the development of a polygenic model, incorporating multiple loci from the individual genes may maximize the chance of identifying individuals with high-risk genotypes.	Control:156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort;Case:226 proatate cancer patients										
135501		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Azzouzi, A. R.  et al. 2002	12370109				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			European journal of endocrinology. 2002 Oct;147(4):479-84	Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate.		607306	26596	2	2002	 These results suggested that common variants of the CYP17 gene are associated with prostate enlargement and therefore may increase the risk of development of BPH in this population, while infrequent variants of the aromatase gene (CYP19) could be of a protective nature.	Cohort 195 French Caucasians 										
135496		cirrhosis; liver cancer; hepatitis C, chronic	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Rossi, L.  et al. 2003	12971967				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Journal of hepatology. 2003 Oct;39(4):564-70	Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.		607306	25595	2	2003	 CYP17 high-activity alleles associated with increased circulating levels of estrogens and androgens may affect liver cancer risk in HCV-infected women.	Case:387 hepatitis C virus patients (100 asymptomatic carriers, 105 hepatitis, 90 cirrhosis and 92 hepatocellular carcinomas);Control:78 healthy subjects										
135497		hypospadias	DEVELOPMENTAL	DEV	Hypospadias|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Thai, H. T.  et al. 2005	16174723				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Journal of clinical endocrinology and metabolism. 2005 Dec;90(12):6695-8	The Valine allele of the V89L polymorphism in the five-alpha reductase gene confers a reduced risk for hypospadias.		607306	25596	2	2005	 This finding is in accordance with the assumption that functional polymorphisms may play an important role in complex disorders such as hypospadias when several genes as well as environmental factors contribute to the etiology.											
135498		prostate volume/histology endocrine patterns	AGING	AGE	Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Schatzl, G.  et al. 2002	12111704				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor, 5alpha-reductase, and PSA genes with prostate volume, clinical parameters, and endocrine status in elderly men.		607306	25597	2	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.	Cohort 190 elderly (66.5 +/- 9.2 yr) men with lower urinary tract symptoms 										
135493		diabetes, type 2; sex hormones	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p23	SRD5A2	31603159	31659544		Ellis, J. A.  et al. 2005	16155734				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Journal of human genetics. 2005 ;50(10):534-7	Androgenic correlates of genetic variation in the gene encoding 5alpha-reductase type 1.		607306	23554	2	2005												
135494		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Ribeiro, M. L.  et al. 2002	11847524				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Brazil	CDC GDPinfo	6716	Hs.458345			Brazilian journal of medical and biological research. 2002 Feb;35(2):205-13	Allelic frequencies of six polymorphic markers for risk of prostate cancer.		607306	25593	2	2002	When both repeat lengths are considered jointly, this Brazilian population is remarkably different from the others. Further studies on prostate cancer patients need to be conducted to assess the significance of these markers in the Brazilian population.	Cohort 200 individuals from two cities in the State of Sao Paulo Brazil 										
135495	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Forrest, M. S.  et al. 2005	15711606				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Great Britain	CDC GDPinfo	6716	Hs.458345			Prostate cancer and prostatic diseases. 2005 ;8(1):95-102	Association between hormonal genetic polymorphisms and early-onset prostate cancer.		607306	25594	2	2005	These findings suggest that common polymorphisms in the AR and SRD5A2 genes may be associated with early-onset CaP in British men.Prostate Cancer and Prostatic Diseases advance online publication, 15	Case:288/50 UK males diagnosed with prostate cancer diagnosed at the age of 55 y or younger (n=288) and and additional group (n=50) of cases not selected for:age:UK;Control:700/76 population-based controls (n=700) and controls not selected by age (n=76)										
135490		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Kakinuma, H.  et al. 2004	15477877				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Japan	CDC GDPinfo	6716	Hs.458345			Prostate cancer and prostatic diseases. 2004 ;7(4):333-7	Serum sex steroid hormone levels and polymorphisms of CYP17 and SRD5A2: implication for prostatecancer risk.		607306	23551	2	2004	The linear trends across the CYP17 genotypes in serum-free testosterone and androstenedione levels were found, suggesting the importance of the polymorphism of CYP17 in determining the circulating androgen levels.	Cohort 164 Japanese males 										
135491		cholesterol, HDL; cholesterol, LDL; breast cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Zeigler-Johnson, C. M.  et al. 2002	12446983				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	African American	Ghana|Senegal|United States	CDC GDPinfo	6716	Hs.458345			Human heredity. 2002 ;54(1):13-21	Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4.		607306	23552	2	2002	 These results suggest that ethnicity-specific differences in genotype frequencies exist for SRD5A2 and CYP3A4. Africans and African-Americans have the highest frequency of those alleles that have previously been associated with increased prostate cancer risk. Future studies should address whether allele frequency differences in part explain differences in prostate cancer incidence in these populations.	Cohort 147/410/129/178 147 African Americans, 410 Caucasian-Americans, 129 Ghanaians, and 178 Senegalese 										
135492	N	androgenetic alopecia	METABOLIC	MET	Alopecia	2	2p23	SRD5A2	31603159	31659544		Ha, S. J.  et al. 2003	12670724				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Korean	Korea	CDC GDPinfo	6716	Hs.458345			Journal of dermatological science. 2003 Apr;31(2):135-41	Analysis of genetic polymorphisms of steroid 5alpha-reductase type 1 and 2 genes in Korean men with androgenetic alopecia.		607306	23553	2	2003	 These results suggest that polymorphisms of SRD5A1 and SRD5A2 genes may not be directly associated with the development of baldness or generation of different clinical phenotypes.	Case:66 patients with androgenetic alopecia;Control:92 healthy men										
135487		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Liu, J. H.  et al. 2004	15061984				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Chinese	China	CDC GDPinfo	6716	Hs.458345			Zhonghua yi xue za zhi. 2004 Mar;84(5):364-8	[Genetic risk factors of prostate cancer in Han nationality population in Northern China and a preliminary study of the reason of racial difference in prevalence of prostate cancer]		607306	23548	2	2004	 There is a significant association between the AR gene CAG polymorphisms and PCa in the Han nationality population in Northern China. The distributions of the genotypes of AR, SRD5A2 and VDR gene are different among different ethnic population, which may be one of the reasons causing the racial difference in prostate cancer risk.	Case:116 Chinese Han patients with prostate cancer Northern China;Control:190 normal male controls										
135488	N	androgen levels	METABOLIC	MET	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Allen, N. E.  et al. 2001	11303586				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):185-9	The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men.		607306	23549	2	2001	These results suggest that the CYP17 MspA1 I polymorphism is not associated with testosterone concentrations and that the SRD5A2 V89L polymorphism is not a strong determinant of A-diol-g concentration in Caucasian men.	Cohort 621 men Britain 										
135489		prostate cancer; steroid hormones	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Haiman, C. A.  et al. 2001	11440959				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Jul;10(7):743-8	The relationship between a polymorphism in CYP17 with plasma hormone levels and prostate cancer.		607306	23550	2	2001	CYP17 genotype may possibly confer a small increased susceptibility to prostate cancer but is not a strong predictor of endogenous steroid hormone levels in men.	Case:590 prostate cancer patients nested within the Physicians' Health Study cohort;Control:780 controls nested within the Physicians' Health Study:cohort										
135484		prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Disease Progression|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Giwercman, Y. L.  et al. 2005	16039774				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			European urology. 2005 Oct;48(4):679-85	The 5alpha-reductase type II A49T and V89L high-activity allelic variants are more common in men with prostate cancer compared with the general population.		607306	19710	2	2005	 Men with CaP were more often genetically predisposed to a higher enzymatic activity in the turn over from T to DHT compared to the general population. In our population, androgen receptor genotype affected CaP outcome.											
135485		prostate enlargement	CANCER	CAN	Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Shibata, A.  et al. 2001	11547131				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Journal of urology. 2001 Oct;166(4):1560-4	Genetic polymorphisms in the androgen receptor and type II 5 alpha-reductase genes in prostate enlargement.		607306	23546	2	2001	 Our finding further supports the hypothesis that the shorter CAG repeat length of the androgen receptor gene is related to prostate enlargement.	Control:197 controls with a prostate weighing less than 80 gm;Case:68 men with a prostate weighing 80 gm. or greater										
135486		micropenis	DEVELOPMENTAL	DEV		2	2p23	SRD5A2	31603159	31659544		Ishii, T.  et al. 2004	15201804				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Journal of urology. 2004 Jul;172(1):319-24	Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis		607306	23547	2	2004	 Our results suggest that administration of 25 mg TE is effective for micropenis in prepubertal boys with no SRD5A2 or AR mutation, with variable but significant PL increments, and that the penile responsiveness to TE therapy is independent of the V89L and the CAG repeat length polymorphisms.	Cohort 53 Japanese boys with micropenis (less than -2.0 SD) 0 to 13 years old who had no SRD5A2 or AR mutation 	testosterone enanthate									
135481	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Lamharzi, N.  et al. 2003	12712437				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			International journal of cancer. Journal international du cancer. 2003 Jul;105(4):480-3	Polymorphic markers in the 5alpha-reductase type II gene and the incidence of prostate cancer.		607306	19707	2	2003	Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene are related to the risk of prostate cancer, but are compatible with the suggestion from earlier studies that men who are homozygous for the TA(9) or (18) alleles and men who have the TA(9)/TA(18) genotype are at a modestly reduced risk.	Case:300 prostate cancer cases;Control:300 controls matched on the basis of race, age at enrollment (within 5 years), enrollment study center and year of randomization										
135483	Y	micropenis	DEVELOPMENTAL	DEV	Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Sasaki, G.  et al. 2003	12843198				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	CDC GDPinfo	6716	Hs.458345			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3431-6	Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81Japanese patients.		607306	19709	2	2003	The results suggest that, in Japanese patients, micropenis can be caused by SRD5A2 gene mutations, especially by R227Q which has been shown to retain approximately 3.2% of normal enzyme activity and appears relatively frequent in Asian populations, and that V89L polymorphism is unlikely to raise the susceptibility to the development of micropenis.	Control:100 control males (50 boys and 50 fertile adult males);Case:81 Japanese patients with micropenis										
135478	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Margiotti, K.  et al. 2000	11381197				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Italian	Italy	CDC GDPinfo	6716	Hs.458345			Disease markers. 2000 ;16(4-Mar):147-50	Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.		607306	19704	2	2000	In conclusion, we report on preliminary evidence for both increased and decreased risk associated with separate markers at this locus.	Case prostate cancer patients:Italy;Control not specified in abstract										
135479	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Hsing, A. W.  et al. 2001	11588134				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Oct;10(10):1077-82	Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study.		607306	19705	2	2001	Although we found no statistically significant associations of these SRD5A2 polymorphisms with prostate cancer risk, a small effect of these markers cannot be ruled out because of the rarity of certain marker genotypes. Larger studies are needed to further clarify the role of these markers and to elucidate whether genetic diversity of the SRD5A2 gene, alone or in combination with other susceptibility genes, can help explain the large racial/ethnic differences in prostate cancer risk.	Case:191 incident cases of prostate cancer:China;Control:304 healthy controls										
135480	N	cryptorchidism	DEVELOPMENTAL	DEV	Oligospermia|Cryptorchidism	2	2p23	SRD5A2	31603159	31659544		Suzuki, Y.  et al. 2002	12137870				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	CDC GDPinfo	6716	Hs.458345			Fertility and sterility. 2002 Aug;78(2):330-4	5Alpha-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism.		607306	19706	2	2002	5alpha-Reductase type 2 gene abnormalities do not constitute a major factor in the development of cryptorchidism or idiopathic azoospermia.	Case:48/33 patients with isolated cryptorchidism (n = 48) or idiopathic azoospermia (n = 33);Control:51 control group of males with proven fertility										
135475	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Tong, M.  et al. 2005	16029630	A49T			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Zhonghua yi xue za zhi. 2005 May;85(19):1319-21	[Association between A49T polymorphism of SRD5A2 gene and risk of prostate cancer]		607306	14080	2	2005	 AA + AT genotype may be of worse prognosis, however, without significant difference. Rank scoring may reflect the relation between Gleason score and A49T genotype and estimate the prognosis better than two-level discrete evaluation.											
135476		menopause	REPRODUCTION	REP		2	2p23	SRD5A2	31603159	31659544			16325991				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			European journal of obstetrics, gynecology, and reproductive biology. 2005	A common polymorphism within the steroid 5-alpha-reductase type 2 gene and timing of menopause in Caucasian women		607306	14081	2	2005	 In the present study the number of full term pregnancies, but not the common V89L SRD5A2 polymorphism, is the only significant predictor for the timing of natural menopause in Caucasian women.											
135477	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Mononen, N.  et al. 2001	11355945				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Finnish	Finland	CDC GDPinfo	6716	Hs.458345			British journal of cancer. 2001 May;84(10):1344-7	A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland.		607306	19703	2	2001	Our results argue against a prominent role of the A49T variant as a genetic risk factor for prostate cancer development and progression in the Finnish population. Copyright 2001 Cancer Research Campaign.	Control:223 patients with benign prostatic hyperplasia;Case:449 prostate cancer patients:Finland;Control:588 population-based controls										
135472		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia|Urination Disorders	2	2p23	SRD5A2	31603159	31659544		Roberts, R. O.  et al. 2004	15389785				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Prostate. 2005 Mar;62(4):380-7	Polymorphisms in the 5alpha reductase type 2 gene and urologic measures of BPH.		607306	14077	2	2004	 These findings do not demonstrate consistent associations between SRD5A2 genotypes and BPH. However, they suggest that the associations of V89L polymorphisms and prostate volume should be investigated further.	Cohort 510 Caucasian men (median age 60 years), randomly selected Olmsted County, MN 1990 - 2000 										
135473		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Tong, M.  et al. 2004	15733480				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2004 Dec;42(24):1493-6	[Association of polymorphisms in testosterone 5-alpha-reductase II genotype and prognosis factors of prostate cancer]		607306	14078	2	2004	 In CaP group, the AT+TT genotype was perhaps associated with poor prognosis. VL+LL genotype has no relation with prognosis.	Case prostate cancer cases;Control benign prostatic hyperplasia cases										
135474		prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Salam, M. T.  et al. 2005	16018939				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Urologic oncology. 2005 Jul-Aug;23(4):246-53	Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer.		607306	14079	2	2005												
135469		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Ntais, C.  et al. 2003	12869400				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2003 Jul;12(7):618-24	SRD5A2 gene polymorphisms and the risk of prostate cancer: a meta-analysis.		607306	14074	2	2003	We exclude a role for the V89L polymorphism in conferring susceptibility to prostate cancer. The A49T and TA repeat polymorphisms may have a modest effect on prostate cancer susceptibility, but bias and chance findings cannot be excluded; any genuine genetic effects would account only for a small proportion of prostate cancer in the population.	Case:1,109 cases from 4 studies;Control:1,378 controls from 4 studies;Case:1,594 prostate cancer cases from 9 studies;Control:2,137 controls from 9 studies										
135470		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		van Gils, C. H.  et al. 2003	14652280	V89L			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1194-9	The V89L polymorphism in the 5-alpha-reductase type 2 gene and risk of breast cancer.		607306	14075	2	2003	In conclusion, our findings do not provide evidence for an important role of the V89L polymorphism in the etiology of breast cancer. However, in breast cancer patients, the LL genotype may be associated with unfavorable prognosis.	Case:295 postmenopausal breast cancer cases of the:DOM-cohort the Netherlands;Control:382 randomly selected individuals selected from the baseline cohort										
135471	N	hypospadias	DEVELOPMENTAL	DEV	Hypospadias	2	2p23	SRD5A2	31603159	31659544		Tria, A.  et al. 2004	14739525				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Hormone research. 2004 ;61(4):180-3	Steroid 5alpha-Reductase 1 Polymorphisms and Testosterone/Dihydrotestosterone Ratio in Male Patients with Hypospadias		607306	14076	2	2004	 Mutant SRD5A1 isoenzyme does not seem to play a crucial role in the development of hypospadias.	Case:10 hypospadias patients with elevated T/DHT ratios in whom mutations in the SRD5A2 and AR genes had been:excluded;Control:49 adult fertile men										
135466		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Shibata, A.  et al. 2002	12210487				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Prostate. 2002 Sep;52(4):269-78	Polymorphisms in the androgen receptor and type II 5 alpha-reductase genes and prostate cancer prognosis.		607306	14071	2	2002	 We observed poorer prognosis among men with the LL genotype at codon 89 of the SRD5A2 gene. Lack of consistency between studies must be resolved before clinical utility of this marker is established.	Cohort 211 men who had undergone radical prostatectomy 										
135467	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Li, Z.  et al. 2003	12771801	V89L			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	CDC GDPinfo	6716	Hs.458345			The Journal of urology. 2003 Jun;169(6):2378-81	Association of V89L SRD5A2 polymorphism with prostate cancer development in a Japanese population.		607306	14072	2	2003	 The V allele of the V89L polymorphism in the SRD5A2 gene may dominantly increase the risk of prostate cancer.	Control:228/243 patients with benign prostatic hyperplasia (n=228) and male controls (n=243);Case:302 patients with prostate cancer										
135468	Y	androgen	METABOLIC	MET	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Allen, N. E.  et al. 2003	12815006				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Great Britain	CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2003 Jun;12(6):578-81	Association between two polymorphisms in the SRD5A2 gene and serum androgen concentrations in British men.		607306	14073	2	2003	Because of the rarity of this variant allele, larger studies are needed to additionally clarify the role of the A49T polymorphism in androgen metabolism.	Cohort 604 British men UK 										
135463	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Spurdle, A. B.  et al. 2001	11751447				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Australian	Australia	CDC GDPinfo	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1287-93	The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women.		607306	14068	2	2001	Given that this study had sufficient power to detect altered risks in the order of 1.4- to 1.7-fold, our results suggest that the SRD5A2 (TA)(9) allele is unlikely to be associated with moderate alterations in breast or ovarian cancer risk.	Control:298 controls of similar age distribution;Control:509 age-matched controls;Case:544 ovarian cancer cases;Case:946 breast cancer cases:Australia										
135464		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Soderstrom, T.  et al. 2002	12042668				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Sweden	CDC GDPinfo	6716	Hs.458345			Pharmacogenetics. 2002 Jun;12(4):307-12	5alpha-reductase 2 polymorphisms as risk factors in prostate cancer.		607306	14069	2	2002	Further studies of the V89L polymorphism may lead to better understanding of the etiology of prostate cancer metastases.	Control:159 healthy controls matched for age;Case:175 prostate cancer patients										
135465	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Yang, C.  et al. 2002	12100746	A49T, V89L and TA			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	CDC GDPinfo	6716	Hs.458345			Breast cancer research. 2002 ;4(4):R8	A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women.		607306	14070	2	2002	 This study is the first to our knowledge focusing on Japanese women, suggesting that SRD5A2 polymorphisms might have an association with breast cancer risk. Further large-sample studies will be required to confirm the association and to assess any interactions with environmental factors.	Control:185 noncancer outpatients;Case:237 patients histologically diagnosed with breast cancer of Aichi Cancer Center Hospital:Japan										
135460		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Cicek MS 2004	14991867	A49T and V89L variants			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			KGB	6716	Hs.458345			The Prostate. 2004 Apr;59(1):69-76	Association of prostate cancer risk and aggressiveness to androgen pathway genes: SRD5A2, CYP17, and the AR.		607306	5632	1	2004	 These findings suggest that the SRD5A2 V89L variant may influence risk of developing prostate cancer, especially among men with a younger age of diagnosis or more aggressive disease.											
135461	N	breast or ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544	n	Spurdle AB et al. 2001	11751447				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2		Australia	KGB	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1287-93	The steroid 5alpha-reductase type II TA repeat polymorphism is not associated with risk of breast or ovarian cancer in Australian women.		607306	5633	1	2001	Given that this study had sufficient power to detect altered risks in the order of 1.4- to 1.7-fold, our results suggest that the SRD5A2 (TA)(9) allele is unlikely to be associated with moderate alterations in breast or ovarian cancer risk.	Control:298 controls of similar age distribution;Control:509 age-matched controls;Case:544 ovarian cancer cases;Case:946 breast cancer cases:Australia										
135462	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Recurrence, Local|Disease Progression	2	2p23	SRD5A2	31603159	31659544		Nam, R. K.  et al. 2001	11164181	V89L			Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			Urology. 2001 Jan;57(1):199-204	V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression		607306	14067	2	2001	 Men who have the V allele of the SRD5A2 gene have a twofold increase in the risk of prostate cancer development and an additional twofold increase in the risk of progression compared with men with the L/L genotype.	Case:318 men who underwent radical prostatectomy;Control:320 men without cancer who underwent biopsy										
135458	Y	serum androgen concentrations	METABOLIC	MET	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Allen NE et al. 2001	11303586	SRD5A2 V89L polymorphism	the L/L genotype of the V89L polymorphism was associated with significantly lower concentrations of testosterone and free testosterone (by 12% and 16%, respectively) and an 8% higher sex hormone-binding globulin concentration.	coding sequence	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	British men		KGB	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 2001 Mar;10(3):185-9	The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men.		607306	5630	1	2001	These results suggest that the CYP17 MspA1 I polymorphism is not associated with testosterone concentrations and that the SRD5A2 V89L polymorphism is not a strong determinant of A-diol-g concentration in Caucasian men.	Cohort 621 men Britain										
135459	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Lamharzi N 2003	12712437				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			KGB	6716	Hs.458345			International journal of cancer. Journal international du cancer. 2003 Jul;105(4):480-3	Polymorphic markers in the 5alpha-reductase type II gene and the incidence of prostate cancer.		607306	5631	1	2003	Our results do not support the hypothesis that the V89L and A49T polymorphisms in the SRD5A2 gene are related to the risk of prostate cancer, but are compatible with the suggestion from earlier studies that men who are homozygous for the TA(9) or (18) alleles and men who have the TA(9)/TA(18) genotype are at a modestly reduced risk.	Case:300 prostate cancer cases;Control:300 controls matched on the basis of race, age at enrollment (within 5 years), enrollment study center and year of randomization										
135454	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Margiotti K et al. 2000	11381197	A49T and V89L, substituting respectively alanine with threonine at codon 49, and valine to leucine at codon 89		coding sequence	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Italian	Italy	KGB	6716	Hs.458345			Disease markers. 2000 ;16(4-Mar):147-50	Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.		607306	5626	1	2000	In conclusion, we report on preliminary evidence for both increased and decreased risk associated with separate markers at this locus.	Case prostate cancer patients:Italy;Control not specified in abstract										
135455	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression	2	2p23	SRD5A2	31603159	31659544	n	Kantoff PW et al. 1997	9138662	A TA dinucleotide repeat polymorphism exists in the 3' untranslated region of the 5 alpha-reductase type II gene		3'untranslated	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			KGB	6716	Hs.458345			Cancer epidemiology, biomarkers & prevention. 1997 Mar;6(3):189-92	A polymorphism of the 5 alpha-reductase gene and its association with prostate cancer: a case-control analysis.		607306	5627	1	1997		Case:590; Control:802										
135451		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	5	5p15	SRD5A1	6686499	6722675		Klotsman, M.  et al. 2004	15136785				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2			CDC GDPinfo	6715	Hs.552			The pharmacogenomics journal. 2004 ;4(4):251-9	A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH.		184753	25592	2	2004	The process(es) in which these silent single-nucleotide polymorphisms (SNPs) influence BPH phenotypes is unknown and additional studies will be needed to assess whether these SNPs have direct functional consequences. The characterization of additional molecular factors that contribute to static and dynamic obstruction may help predict response to pharmacotherapy and serve to identify novel drug targets for the clinical management of BPH.	Cohort men with a clinical diagnosis of benign prostatic hyperplasia 										
135452	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Makridakis NM et al. 1999	10501358	mis-sense substitution results in an alanine residue at codon 49 being replaced with threonine (A49T).		coding sequence	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	African-American and Hispanic men in Los Angeles	Los Angeles	KGB	6716	Hs.458345			Lancet. 1999 Sep;354(9183):975-8	Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles USA.		607306	5624	1	1999		Case:216 AA 172 His; Control:261 AA 200 His										
135453	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544	p = 0.024	Li Z et al. 2003	12771801	V89L		coding sequence	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	KGB	6716	Hs.458345			The Journal of urology. 2003 Jun;169(6):2378-81	Association of V89L SRD5A2 polymorphism with prostate cancer development in a Japanese population.		607306	5625	1	2003	 The V allele of the V89L polymorphism in the SRD5A2 gene may dominantly increase the risk of prostate cancer.	Control:228/243 patients with benign prostatic hyperplasia (n=228) and male controls (n=243);Case:302 patients with prostate cancer										
135447		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	13	13q31.1	SPRY2	79808112	79813087			16327884				Sprouty homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005842.2			CDC GDPinfo	10253	Hs.18676			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		602466	28110	2	2005												
135449		hyperandrogenism	METABOLIC	MET	Hyperandrogenism	5	5p15	SRD5A1	6686499	6722675		Eminovic, I.  et al. 2005	16100771				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2		Bosnia-Herzegovina	CDC GDPinfo	6715	Hs.552			Croatian medical journal. 2005 Aug;46(4):664-9	Gene analysis of steroid 5 alpha-reductase 1 in hyperandrogenic women.		184753	19701	2	2005	 Polymorphisms of SRD5A1 gene were the same in both hyperandrogenic and healthy women, indicating no significant associations of genetic polymorphisms/variations of SRD5A1 gene with clinical manifestations of hyperandrogenic disorders in women.											
135450		diabetes, type 2; sex hormones	UNKNOWN	UNK	Diabetes Mellitus, Type 2	5	5p15	SRD5A1	6686499	6722675		Ellis, J. A.  et al. 2005	16155734				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2			CDC GDPinfo	6715	Hs.552			Journal of human genetics. 2005 ;50(10):534-7	Androgenic correlates of genetic variation in the gene encoding 5alpha-reductase type 1.		184753	19702	2	2005												
135444		bone density	NORMALVARIATION	NV		4	4q21-q25	SPP1	89115825	89123587		Willing, M. C.  et al. 2003	12879219				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		166490	27843	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
135445		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	4	4q21-q25	SPP1	89115825	89123587		Akahoshi, M.  et al. 2004	15004750				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1		Japan	CDC GDPinfo	6696	Hs.313			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		166490	28194	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
135446		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Iwai, N.  et al. 2004	15167446				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Japanese	Japan	CDC GDPinfo	6696	Hs.313			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		166490	28553	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
135441		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	4	4q21-q25	SPP1	89115825	89123587		Naito, M.  et al. 2005	15868370			promoter	Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Journal of gastroenterology. 2005 Apr;40(4):381-8	SNPs in the promoter region of the osteopontin gene as a marker predicting the efficacy of interferon-based therapies in patients with chronic hepatitis C		166490	19697	2	2005	 SNPs in the promoter region of OPN may be useful as a marker to predict the efficacy of IFN-based therapies in patients with chronic hepatitis C, and further investigation regarding their real significance is warranted in a large series of patients.	Cohort 77 patients with chronic hepatitis C who had received either IFN monotherapy or IFN-ribavirin combination therapy (IFN-based therapies) 	interferon									
135442		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	4	4q21-q25	SPP1	89115825	89123587		Chiocchetti, A.  et al. 2005	15885319				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Journal of neuroimmunology. 2005 Jun;163(2-Jan):172-8	Osteopontin gene haplotypes correlate with multiple sclerosis development and progression.		166490	19698	2	2005	These data suggest that OPN genotypes may influence MS development and progression due to their influence on OPN levels.	Case:425 multiple sclerosis patients;Control:688:controls										
135443		bone density; coronary calcification	METABOLIC	MET	Coronary Artery Disease|Calcinosis	4	4q21-q25	SPP1	89115825	89123587		Taylor, B. C.  et al. 2005	15744522				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Human genetics. 2005 May;116(6):525-8	Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study.		166490	23545	2	2005												
135438		urinary calculus	METABOLIC	MET	Urinary Calculi	4	4q21-q25	SPP1	89115825	89123587		Gao, B.  et al. 2005	16145474				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			The Journal of urology. 2005 Oct;174(4 Pt 1):1472-6	A polymorphism of the osteopontin gene is related to urinary calcium stones.		166490	14065	2	2005	 Polymorphism at position 9,402 of the OPN gene is highly associated with urinary calcium stones and it is a candidate genetic marker for evaluating the genetic risk of urinary calcium stone disease, whereas polymorphism at position 9,171 of the OPN gene is not associated with urinary calcium stone disease.											
135439		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Hensiek, A. E.  et al. 2003	12928913				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Journal of neurology. 2003 Aug;250(8):943-7	Osteopontin gene and clinical severity of multiple sclerosis.		166490	19694	2	2003	Despite strong theoretical reasons to consider osteopontin as a potential candidate, the results of our study argue against the gene being a susceptibility locus for either the development or clinical severity of MS.	Case:1,056 multiple sclerosis patients;Control:325:controls										
135440		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	4	4q21-q25	SPP1	89115825	89123587		Mochida, S.  et al. 2004	14706653			promoter	Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Biochemical and biophysical research communications. 2004 Jan;313(4):1079-85	Genetic polymorphims in promoter region of osteopontin gene may be a marker reflecting hepatitis activity in chronic hepatitis C patients.		166490	19695	2	2004	OPN promoter region SNP at nt -433 may be a useful marker reflecting hepatitis activity in chronic hepatitis C patients.	Cohort 176 patients with chronic hepatitis C 										
135435		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	4	4q21-q25	SPP1	89115825	89123587		D'Alfonso, S.  et al. 2005	15692970			5' promoter, 3' UTR	Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Arthritis and rheumatism. 2005 Feb;52(2):539-47	Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus.		166490	14062	2	2005	 These data suggest the independent effect of a promoter (-156) and a 3'-untranslated region (+1239) SNP in SLE susceptibility. We can speculate that these sequence variants (or others in perfect linkage disequilibrium) create a predisposition to high production of OPN, and that this in turn may confer susceptibility to SLE.	Case:394 systemic lupus erythematosus patients;Control:479 matched controls										
135436		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Urcelay, E.  et al. 2005	15742429				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Spanish	Spain	CDC GDPinfo	6696	Hs.313			The Journal of rheumatology. 2005 Mar;32(3):405-9	Osteopontin gene polymorphisms in Spanish patients with rheumatoid arthritis.		166490	14063	2	2005	 Our data suggest that, unlike the reported effect of the OPN SNP conferring predisposition to common diseases such as multiple sclerosis or systemic lupus erythematosus, these OPN gene polymorphisms do not contribute to RA susceptibility in the Spanish population we studied.											
135431		autoimmunity/lymphoproliferation	IMMUNE	IMM	Lymphoproliferative Disorders|Autoimmune Diseases|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Chiocchetti A 2004	14592838				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			KGB	6696	Hs.313			Blood. 2004 Feb;103(4):1376-82	High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation.		166490	5622	1	2004												
135432	Y	systemic lupus erythematosus	IMMUNE	IMM	Opportunistic Infections|Kidney Failure|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Forton AC 2002	11933203				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			Y Wang	6696	Hs.313			Human mutation. 2002 Apr;19(4):459	An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus.		166490	5623	1	2002												
135433		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Niino, M.  et al. 2003	12620651				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Japanese	Japan	CDC GDPinfo	6696	Hs.313			Journal of neuroimmunology. 2003 Mar;136(2-Jan):125-9	Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients.		166490	14060	2	2003	Our results suggest that the 8090th polymorphism might be associated with susceptibility to MS, while the 9583rd polymorphism might be associated with age of onset of MS.	Case:116 Japanese multiple sclerosis patients;Control:124 healthy controls										
135428	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587	n	Hensiek AE et al 2003	12928913	E6 rs 4754 T/C-E7 rs 1126616 T/C-rs 4660 A/G-rs 1126772 A?G- rs 1126859 A/C- rs 9138 A/C-rs 1126880 A/C- rs 1126893 A/C		other	Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Caucasian		KGB	6696	Hs.313			Journal of neurology. 2003 Aug;250(8):943-7	Osteopontin gene and clinical severity of multiple sclerosis.		166490	5619	1	2003	Despite strong theoretical reasons to consider osteopontin as a potential candidate, the results of our study argue against the gene being a susceptibility locus for either the development or clinical severity of MS.	Case:1,056 multiple sclerosis patients;Control:325:controls										
135429	N	adult-onset primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	4	4q21-q25	SPP1	89115825	89123587	n	Wiggs JL 2003	12912697				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			KGB	6696	Hs.313			Archives of ophthalmology. 2003 Aug;121(8):1181-3	Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.		166490	5620	1	2003	 The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma in this patient population.Clinical Relevance Genetic abnormalities that render the optic nerve susceptible to degeneration are excellent candidates for genetic factors that could contribute to adult-onset primary open-angle glaucoma. Mutations in optineurin have been associated with normal-tension glaucoma, but are not associated with disease in patients with adult-onset primary open-angle glaucoma. This result may indicate that normal-tension glaucoma is not necessarily part of the phenotypic spectrum of adult open-angle glaucoma.											
135430		normal variation	NORMALVARIATION	NV		4	4q21-q25	SPP1	89115825	89123587		Willing MC 2003	12879219				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			KGB	6696	Hs.313	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		166490	5621	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
135424	Y	asthma; atopic dermatitis	IMMUNE	IMM	Asthma	5	5q32	SPINK5	147423758	147497120		Kabesch, M.  et al. 2004	15005725				Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2		Germany	CDC GDPinfo	11005	Hs.331555			Clinical and experimental allergy. 2004 Mar;34(3):340-5	Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample.		605010	14058	2	2004	 These results suggest that SPINK5 Glu420Lys polymorphism may be associated with certain asthma phenotypes characterized by the concomitant expression of asthma and atopic dermatitis or SPT reactivity.	Cohort 1,161 German children 										
135425		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q32	SPINK5	147423758	147497120		Rihs, H. P.  et al. 2005	15820494	Glu420Lys			Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2			CDC GDPinfo	11005	Hs.331555			Clinica chimica acta; international journal of clinical chemistry. 2005 May;355(2-Jan):185-9	Rapid detection of the SPINK5 polymorphism Glu420Lys by real-time PCR technology.		605010	14059	2	2005	 315 samples were successfully screened with this new assay. The temperatures in the melting analysis of the SPINK5 exon 14 PCR product were characteristic to the probes hybridised to the mutant (AA) at 51.5 degrees C and to the wild-type (GG) at 59.5 degrees C. The fast and reliable mutation detection in the tested samples makes this high-speed method suitable for larger epidemiological studies.	Case:235 latex-allergic health care workers (HCWs) with (N=63) and without asthma (N=172);Control:80 non-atopic controls										
135426		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q32	SPINK5	147423758	147497120		Huang, J. L.   2005	15986064				Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2		Taiwan	CDC GDPinfo	11005	Hs.331555			Journal of microbiology, immunology, and infection. 2005 Jun;38(3):158-63	Asthma severity and genetics in Taiwan.		605010	23544	2	2005												
135420	Y	atopy. asthma. Netherton	IMMUNE	IMM	Asthma|Dermatitis, Atopic	5	5q32	SPINK5	147423758	147497120	0.002	Walley AJ 2001	11544479	Glu420-Lys			Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2			KCB	11005	Hs.331555			Nature genetics. 2001 Oct;29(2):175-8			605010	6684	1	2001												
135421	Y	Atopic dermatitis. atopy	IMMUNE	IMM	Asthma|Dermatitis, Atopic	5	5q32	SPINK5	147423758	147497120	P=<0.01	Walley AJ 2001	11544479	Glu420Lys			Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2	U.K.		KGB	11005	Hs.331555			Nature genetics. 2001 Oct;29(2):175-8			605010	6685	1	2001												
135422	Y	Atopic dermatitis. atopy	IMMUNE	IMM	Asthma|Dermatitis, Atopic	5	5q32	SPINK5	147423758	147497120	P=<0.01	Walley AJ 2001	11544479	Glu420Lys			Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2			KGB	11005	Hs.331555			Nature genetics. 2001 Oct;29(2):175-8			605010	6686	1	2001												
135423	Y	atopic dermatitis	IMMUNE	IMM	Skin Diseases, Genetic|Dermatitis, Atopic|Genetic Predisposition to Disease	5	5q32	SPINK5	147423758	147497120		Kato, A.  et al. 2003	12752122				Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2	Japanese	Japan	CDC GDPinfo	11005	Hs.331555			The British journal of dermatology. 2003 Apr;148(4):665-9	Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population.		605010	14057	2	2003	 This study confirms the previous suggestion of an association between SPINK5 and AD.	Control:110 healthy controls;Case:124 Japanese patients with atopic dermatitis										
135417		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Witt, H.   2001	12120220				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Pancreatology. 2001 ;1(5):432-8	Gene mutations in children with chronic pancreatitis.		167790	25589	2	2001	In conclusion, our data suggest that CP may be inherited in a dominant, recessive or multigenetic manner as a result of mutations in the above-mentioned or as yet unidentified genes. This challenges the concept of idiopathic CP as a nongenetic disorder and the differentiation between hereditary and idiopathic CP. Therefore, we propose to classify CP as either 'primary CP' (with or without a family history) or 'secondary CP' caused by toxic, metabolic or other factors.	Cohort 164 unrelated children and adolescents with idiopathic chronic pancreatitis 										
135418		pancreatitis	IMMUNE	IMM	Pancreatitis, Alcoholic	5	5q32	SPINK1	147184338	147191453		Perri, F.  et al. 2003	12939655				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			European journal of human genetics. 2003 Sep;11(9):687-92	Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis		167790	25590	2	2003	The supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse.	Cohort 45/34 unrelated alcoholic chronic pancreatitis patients (n=45) and patients with alcoholic liver disease (n=34) 										
135414	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Diabetes Mellitus|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Bhatia, E.  et al. 2002	12360463				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		India	CDC GDPinfo	6690	Hs.407856			Gastroenterology. 2002 Oct;123(4):1020-5	Tropical calcific pancreatitis: strong associationwith SPINK1 trypsin inhibitor mutations.		167790	23541	2	2002	 TCP is highly associated with the SPINK1 N34S mutation. The high prevalence of N34S in TCP patients with and without diabetes suggests that these 2 subtypes have a similar genetic predisposition. The genetic predisposition to TCP resembles, at least in part, the idiopathic chronic pancreatitis found in industrialized countries.	Case:66 unrelated TCP patients (44 men, 49 with diabetes, and 6 with family history of TCP) and 25 relatives;Control:92 healthy control subjects										
135415	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Chandak, G. R.  et al. 2004	15082592				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Gut. 2004 May;53(5):723-8	Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.		167790	23542	2	2004	 Irrespective of the aetiology, mutations in the PRSS1 gene are not associated with chronic pancreatitis, including HP. In contrast, the N34S mutation in the SPINK1 gene shows a significant correlation in these patients. A comparable phenotype in terms of age of onset, diabetes mellitus, and other phenotypic features in patients with or without SPINK1 mutations and N34S homozygotes and heterozygotes suggests that there may still be involvement of other genetic or environmental factors.	Case:198 pancratitis patients, of whom 120 were diagnosed as idiopathic (ICP), 41 as alcoholic (ACP), and 37 as hereditary pancreatitis (HP);Control:290:controls										
135416	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Lee, K. H.  et al. 2004	15329520				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Korean		CDC GDPinfo	6690	Hs.407856			The Korean journal of gastroenterology. 2004 Aug;44(2):93-8	[Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis]		167790	23543	2	2004	 SPINK1 and PRSS1 mutations are not related to the development of CP in Korea.	Control:19:controls;Case:71 Korean patients with chronic pancreatitis										
135411		pancreatitis, alcoholic	IMMUNE	IMM	Pancreatitis, Alcoholic	5	5q32	SPINK1	147184338	147191453		Lee, K. H.  et al. 2005	16187186				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Korean		CDC GDPinfo	6690	Hs.407856			Digestive diseases and sciences. 2005 Oct;50(10):1852-6	Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.		167790	23538	2	2005												
135412	Y	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Teich, N.  et al. 2002	11866271				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			The American journal of gastroenterology. 2002 Feb;97(2):341-6	Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of furthertrypsinogen variants.		167790	23539	2	2002	 The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP. The CT gene carries several variations that could be associated with chronic pancreatitis. To avoid overestimating the pathogenetic impact of novel trypsinogen variants, a detailed clinical characterization of all patients with early onset chronic pancreatitis is mandatory.	Case:523 patients with chronic nonalcoholic pancreatitis (108 patients with suspected hereditary pancreatitis (HP) and 415 patients with "idio:pathic" pancreatitis [IP]);Control:82 controls not specified in abstract										
135413		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Audrezet, M. P.  et al. 2002	11938439				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		France	CDC GDPinfo	6690	Hs.407856			European journal of human genetics. 2002 Feb;10(2):100-6	Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.		167790	23540	2	2002	Thus, in total, about 30% of ICP patients carried at least one abnormal allele in one of the three genes, and this is the most conservative estimate. Moreover, a trans-heterozygous state with sequence variations in the PSTI/CFTR genes was found in three patients. However, an association between the 5T allele in intron 8 of the CFTR gene and ICP remains unproven.											
135408	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Gomez-Lira, M.  et al. 2003	12825076				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Italian	Italy	CDC GDPinfo	6690	Hs.407856			European journal of human genetics. 2003 Jul;11(7):543-6	Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.		167790	23535	2	2003	The association of SPINK1 with CFTR gene mutations in IP patients is statistically significant (3/32 IP cases and 0/100 control individuals carrying mutations in both genes; Fisher's exact test P=0.01).	Cohort 32 idiopathic pancreatitis patients Italy 										
135409	Y	pancreatitis	IMMUNE	IMM	HIV Infections|Pancreatitis|Acute Disease	5	5q32	SPINK1	147184338	147191453		Felley, C.  et al. 2004	15238770				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			AIDS (London, England). 2004 Jul;18(11):1521-7	The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: acase-control study.		167790	23536	2	2004	 CFTR mutations and SPINK-1 polymorphisms are frequent among HIV-positive patients suffering from acute pancreatitis. These mutations may increase the susceptibility to pancreatitis when exposed to environmental risk factors.	Case:51 patients with hyperamylasemia identified during a toxicity study among 1,152 participants of the Swiss HIV Cohort Study:Aug, 1999;Control:51 HIV-infected controls matched according to sex, age, CD4 cell count, viraemia and medication use										
135410		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Weiss, F. U.  et al. 2005	15987793				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Gut. 2005 Oct;54(10):1456-60	Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.		167790	23537	2	2005	 These data show that not only compound heterozygosity, but also cystic fibrosis carrier status for different types of CFTR mutations, including uncommon/mild mutations, significantly increase the risk of developing pancreatitis. Although 45% of the study's ICP patients carried predisposing genetic risk factors (for example, mutations in CFTR or SPINK1), the authors found no evidence that the risk conveyed by CFTR mutations depends on co-inherited SPINK1 mutations.											
135405		pancreatitis, chronic; pancreatitis, acute	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Kume, K.  et al. 2005	15980664				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Japanese	Japan	CDC GDPinfo	6690	Hs.407856			Pancreatology. 2005 ;5(5-Apr):354-60	Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.		167790	19692	2	2005	 The SPINK1 gene mutations were associated with pancreatitis also in Japan.											
135406	N	pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Matsubayashi, H.  et al. 2003	14688470				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Cancer biology & therapy. 2003 Nov-Dec;2(6):652-5	Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer.		167790	23533	2	2003	We conclude that  the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polymorphisms do not predispose to the development of pancreatic adenocarcinoma. Furthermore, the N34S polymorphism is rarely found in patients with severe idiopathic chronic pancreatitis.	Control:177/112 chronic cholecystitis controls (n=177) and colorectal cancer controls (n=112);Case:36 patients with familial pancreatic cancer										
135407		pancreatitis	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Gaia, E.  et al. 2002	12452372				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Digestive diseases and sciences. 2002 Nov;47(11):2416-21	Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.		167790	23534	2	2002	In conclusions, mutations in the genes investigated are involved in causing idiopathic pancreatitis. Such mutations have no connection either with the age at onset or the clinical course of the disease.	Cohort patients with idiopathic and alcoholic chronic pancreatitis 										
135402	Y	pancreatic cancer; pancreatitis, chronic	CANCER	CAN	Pancreatic Neoplasms|Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Lempinen, M.  et al. 2005	15764155				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Finnish	Finland	CDC GDPinfo	6690	Hs.407856			Scandinavian journal of gastroenterology. 2005 Feb;40(2):225-30	Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: a report fromFinland.		167790	19689	2	2005	 The SPINK1 N34S mutation was significantly associated with an increased risk of CP. The association of the N34S mutation with alcoholic CP was marginally stronger than in earlier studies, whereas in the Finnish population in general, this mutation was significantly more frequent than reported elsewhere.	Case:116/188 patients with chronic pancreatitis (n=116) and pancreatic cancer (n=188);Control:459 healthy individuals										
135403	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Tukiainen, E.  et al. 2005	15782101				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Pancreas. 2005 Apr;30(3):239-42	Pancreatic secretory trypsin inhibitor (SPINK1) gene mutations in patients with acute pancreatitis.		167790	19690	2	2005	 SPINK1 N34S mutation enhances the susceptibility of AP.	Case:371 patients with acute pancreatitis, of which 207 patients had mild and 164 had a severe form of the:disease;Control:559 blood donors										
135404	N	diabetes, type 2	METABOLIC	MET	Pancreatitis|Diabetes Mellitus, Type 2|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Schneider, A.  et al. 2005	15910626				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Diabetic medicine. 2005 Jun;22(6):744-8	The SPINK1 N34S mutation is not associated with Type 2 diabetes mellitus in a population of the USA.		167790	19691	2	2005	 The SPINK1 N34S mutation appears not to predispose Hispanic or non-Hispanic white people from the USA to the development of Type 2 diabetes mellitus.	Control:302 ethnically matched healthy controls;Case:387/259 Hispanic and non-Hispanic white with diabetes and familial clustering (n=387) and with type 2 diabetes without a family history (n=259) as part of the San Luis Valley Diabetes Study:US										
135399	Y	diabetes, type 2; pancreatitis, tropical calcific	OTHER	OTH	Pancreatitis|Diabetes Mellitus, Type 2|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Schneider, A.  et al. 2002	12360464				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		Bangladesh	CDC GDPinfo	6690	Hs.407856			Gastroenterology. 2002 Oct;123(4):1026-30	SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh.		167790	19686	2	2002	 In Bangladesh, the SPINK1 N34S mutation increases the risk of several forms of pancreatic disease, including fibrocalculous pancreatic diabetes, tropical calcific pancreatitis, and non-insulin-dependent diabetes mellitus.	Case:22/15/43 patients with fibrocalculous pancreatic diabetes (n = 22), tropical calcific pancreatitis (n = 15), and non-insulin-dependent diabetes mellitus (n = 43):Bangladesh;Control:76:controls										
135400	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	5	5q32	SPINK1	147184338	147191453		Teich, N.  et al. 2003	12649567				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Pancreatology. 2003 ;3(1):67-8	N34S, a pancreatitis associated SPINK1 mutation, is not associated with sporadic pancreatic cancer.		167790	19687	2	2003	 The N34S mutation of SPINK1 appears not to be a distinct genetic risk factor in patients with sporadic pancreatic cancer.	Case:159 German patients with sporadic pancreatic cancer;Control:492 healthy controls										
135401		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Schneider, A.  et al. 2003	12822871				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		United States	CDC GDPinfo	6690	Hs.407856			Digestive diseases and sciences. 2003 Jun;48(6):1110-5	Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.		167790	19688	2	2003	The N34S mutation is uncommon in patients with alcoholic chronic pancreatitis in the United States; its prevalence is similar to other countries and appears not to alter the onset or the severity of alcoholic chronic pancreatitis.	Control:190 previously studied healthy controls;Case:32/39 patients with alcoholic chronic pancreatitis (n=32) and patients with nonalcoholic chronic pancreatitis:(n=39)	alcohol									
135396	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Truninger, K.  et al. 2002	12014716				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			The American journal of gastroenterology. 2002 May;97(5):1133-7	Mutations of the serine protease inhibitor, Kazal type 1 gene, in patients with idiopathic chronic pancreatitis.		167790	19683	2	2002	 Our results indicate that the N34S mutation in the SPINKI gene is strongly associated with ICP, especially with the early-onset type. The natural course is similar in patients with mutations compared with SPINK1 mutation-negative patients. The N34S mutation may easily be screened for by restriction digestion with TspR I.	Case:18 patients with early-onset (n=14) and with late-onset CP (n=4) of our well-defined pancreatitis cohort;Control:397 healthy individuals										
135397		pancreatitis	IMMUNE	IMM	Pancreatitis	5	5q32	SPINK1	147184338	147191453		Pfutzer, R. H.  et al. 2001	12120224				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Pancreatology. 2001 ;1(5):457-60	SPINK1 mutations are associated with multiple phenotypes.		167790	19684	2	2001	Review article											
135398		diabetes, pancreatic	METABOLIC	MET	Pancreatitis|Diabetes Mellitus|Diabetes Complications|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Hassan, Z.  et al. 2002	12187509				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Indian	India	CDC GDPinfo	6690	Hs.407856			American journal of human genetics. 2002 Oct;71(4):964-8	SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent		167790	19685	2	2002	These results suggest that the N34S variant of SPINK1 is a susceptibility gene for FCPD in the Indian subcontinent, although, by itself, it is not sufficient to cause disease.	Case:180 subjects with fibrocalculous pancreatic diabetes:India;Control:861/219/354 nondiabetic subjects (n=861), subjects with type 2 diabetes, (N=219), subjects with early-onset diabetes (n=354), and ethnically matched controls										
135393	Y	idiopathic chronic pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Threadgold J et al. 2002	11950815				serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			KGB	6690	Hs.407856			Gut. 2002 May;50(5):675-81	The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.		167790	5617	1	2002	 The prevalence of the N34S mutation was increased in patients with ICP and was greatest in f-ICP cases. Segregation of the N34S mutation in families with pancreatitis is unexplained and points to a complex association between N34S and another putative pancreatitis related gene.											
135394	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Threadgold, J.  et al. 2002	11950815				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Gut. 2002 May;50(5):675-81	The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease		167790	19681	2	2002	 The prevalence of the N34S mutation was increased in patients with ICP and was greatest in f-ICP cases. Segregation of the N34S mutation in families with pancreatitis is unexplained and points to a complex association between N34S and another putative pancreatitis related gene.	Cohort 327 individuals from 217 families affected by pancreatitis 										
135395	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Drenth, J. P.  et al. 2002	11950817				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDPinfo	6690	Hs.407856			Gut. 2002 May;50(5):687-92	Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.		167790	19682	2	2002	 Identification of SPINK1 mutations in 12.2% of patients with adult alcoholic and idiopathic chronic pancreatitis suggests an important role for SPINK1 as a predisposing factor in adult chronic pancreatitis.	Case:115 adult patients with chronic pancreatitis of:alcoholic (n=72), hereditary (n=10), idiopathic (n=24), and miscellaneous (n=9) origin;Control:120 healthy Dutch subjects										
135390	Y	pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Bernardino AL 2003	14526128				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Brazilian	Brazil	KGB	6690	Hs.407856			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.		167790	5614	1	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
135391		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Masamune A 2004	15084977	N34S mutation			Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Japanese	Japan	KGB	6690	Hs.407856			Pancreas. 2004 Apr;28(3):305-10	Hereditary pancreatitis as the premalignant disease: a Japanese case of pancreatic cancer involving the SPINK1 gene mutation N34S.		167790	5615	1	2004												
135392		pancreatitis	IMMUNE	IMM	Pancreatitis	5	5q32	SPINK1	147184338	147191453		Le Marechal C 2004	14722925	27delC; 87+1G>A			Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			KGB	6690	Hs.407856			Human mutation. 2004 Feb;23(2):205	Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.		167790	5616	1	2004												
135387	Y	Tropical calcific pancreatitis	IMMUNE	IMM	Pancreatitis|Diabetes Mellitus|Chronic Disease	5	5q32	SPINK1	147184338	147191453	<0.0001	Bhatia E et al. 2002	12360463	N34S		coding sequence	Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Indian	India	HW	6690	Hs.407856			Gastroenterology. 2002 Oct;123(4):1020-5	Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations.		167790	5611	1	2002	 TCP is highly associated with the SPINK1 N34S mutation. The high prevalence of N34S in TCP patients with and without diabetes suggests that these 2 subtypes have a similar genetic predisposition. The genetic predisposition to TCP resembles, at least in part, the idiopathic chronic pancreatitis found in industrialized countries.	Case:66 unrelated TCP patients (44 men, 49 with diabetes, and 6 with family history of TCP) and 25 relatives;Control:92 healthy control subjects										
135388	Y	chronic pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Witt H et al. 2000	10835640	N34S	unknown	coding sequence	Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	German		HW	6690	Hs.407856	idiopathic pancreatitis, tropical pancreatitis, hereditary pancreatitis		Nature genetics. 2000 Jun;25(2):213-6	Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis		167790	5612	1	2000		Case:96; Control:279										
135389	Y	chronic pancreatitis.	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Drenth JP et al. 2002	11950817	N34S			Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Dutch patients with chronic pancreatitis of various origin		KGB	6690	Hs.407856	Chronic Pancreatitis		Gut. 2002 May;50(5):687-92	Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.		167790	5613	1	2002	 Identification of SPINK1 mutations in 12.2% of patients with adult alcoholic and idiopathic chronic pancreatitis suggests an important role for SPINK1 as a predisposing factor in adult chronic pancreatitis.	Case:115 adult patients with chronic pancreatitis of:alcoholic (n=72), hereditary (n=10), idiopathic (n=24), and miscellaneous (n=9) origin;Control:120 healthy Dutch subjects										
135384		spastic paralysis	NEUROLOGICAL	NEUR		2	2p24-p21	SPAST	32142183	32236210		Zhao, G. H.  et al. 2003	12778437				spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946.3	Chinese		CDC GDPinfo	6683	Hs.468091			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):177-80	[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia]		604277	19679	2	2003	 The mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.	Cohort 31 unrelated affected hereditary spastic paraplegia China 										
135385		spastic paralysis	NEUROLOGICAL	NEUR	Spastic Paraplegia, Hereditary	2	2p24-p21	SPAST	32142183	32236210		Tang, B.  et al. 2004	14732620				spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946.3	Chinese	China	CDC GDPinfo	6683	Hs.468091			Archives of neurology. 2004 Jan;61(1):49-55	Three novel mutations of the spastin gene in chinese patients with hereditary spastic paraplegia		604277	19680	2	2004	 To our knowledge, this is the first report of SPG4 mutations in the People's Republic of China. The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.	Case:31 unrelated spastic paralysis patients:China;Control:50 control subjects										
135386	Y	tropical pancreatitis and type II diabetes mellitus	OTHER	OTH	Pancreatitis|Diabetes Mellitus, Type 2|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Schneider A et al. 2002	12360464				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		Bangladesh	KGB	6690	Hs.407856			Gastroenterology. 2002 Oct;123(4):1026-30	SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh.		167790	5610	1	2002	 In Bangladesh, the SPINK1 N34S mutation increases the risk of several forms of pancreatic disease, including fibrocalculous pancreatic diabetes, tropical calcific pancreatitis, and non-insulin-dependent diabetes mellitus.	Case:22/15/43 patients with fibrocalculous pancreatic diabetes (n = 22), tropical calcific pancreatitis (n = 15), and non-insulin-dependent diabetes mellitus (n = 43):Bangladesh;Control:76:controls										
135380		bone density	NORMALVARIATION	NV		5	5q31.3-q32	SPARC	151021201	151046710		Willing, M. C.  et al. 2003	12879219				Secreted protein, acidic, cysteine-rich (osteonectin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003118.2			CDC GDPinfo	6678	Hs.111779			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		182120	27623	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
135381	Y	spastic paraplegia	NEUROLOGICAL	NEUR	Spastic Paraplegia, Hereditary	2	2p24-p21	SPG4	32142183	32236522		Santorelli FM et al. 2000	10980739				Spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946		Italy	KGB	6683	Hs.468091			Neurology. 2000 Sep;55(5):702-5	Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.		604277	5607	1	2000												
135382		hereditary spastic paraparesis due to a frame shift mutat	IMMUNE	IMM	Multiple Sclerosis|Epilepsy|Paraparesis, Spastic|Genetic Predisposition to Disease	2	2p24-p21	SPG4	32142183	32236522		Mead SH et al. 2001	11723204				Spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946			KGB	6683	Hs.468091			Journal of neurology, neurosurgery, and psychiatry. 2001 Dec;71(6):788-91	A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.		604277	5608	1	2001												
135383		cognitive impairment	PSYCH	PSY	Dementia|Spastic Paraplegia, Hereditary|Disease Progression|	2	2p24-p21	SPG4	32142183	32236522		Tallaksen CM 2003	12925368				Spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946			KGB	6683	Hs.468091			Archives of neurology. 2003 Aug;60(8):1113-8	Subtle cognitive impairment but no dementia in patients with spastin mutations.		604277	5609	1	2003	 Asymptomatic cognitive impairment mostly affecting executive functions is present in SPG4 mutation carriers and is more frequent in those with missense mutations.											
135377		normal variation	NORMALVARIATION	NV		5	5q31.3-q32	SPARC	151021201	151046710		Willing MC 2003	12879219				Secreted protein, acidic, cysteine-rich (osteonectin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003118.2			KGB	6678	Hs.111779	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		182120	5606	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
135378	Y	scleroderma	IMMUNE	IMM	Pulmonary Fibrosis|Raynaud Disease|Scleroderma, Systemic|Genetic Predisposition to Disease	5	5q31.3-q32	SPARC	151021201	151046710		Zhou, X.  et al. 2002	12428242				Secreted protein, acidic, cysteine-rich (osteonectin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003118.2			CDC GDPinfo	6678	Hs.111779			Arthritis and rheumatism. 2002 Nov;46(11):2990-9	Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma.		182120	14055	2	2002	 This study is the first to show that polymorphisms of the SPARC gene are associated with susceptibility to, and clinical manifestations of, SSc and that they may also be functionally important in influencing SPARC expression in skin fibroblasts.	Cohort systemic sclerosis patients 										
135379	N	scleroderma	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	5	5q31.3-q32	SPARC	151021201	151046710		Lagan, A. L.  et al. 2004	15546965				Secreted protein, acidic, cysteine-rich (osteonectin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003118.2			CDC GDPinfo	6678	Hs.111779			Rheumatology (Oxford, England). 2005 Feb;44(2):197-201	Single-nucleotide polymorphisms in the SPARC gene are not associated with susceptibility to scleroderma.		182120	14056	2	2004	 SNPs in the SPARC gene are not associated with susceptibility to scleroderma. This research adds to the genetic knowledge of the SPARC gene by identifying five novel SNPs spanning the whole gene and inserting these within the context of clearly defined haplotypes.	Case:121 scleroderma patients;Control:200:controls										
135374	N	oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia	X	Xq26-q27	SOX3	139412817	139414891		Raverot, G.  et al. 2004	15292361				SRY (sex determining region Y)-box 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005634.2			CDC GDPinfo	6658	Hs.157429			The Journal of clinical endocrinology and metabolism. 2004 Aug;89(8):4146-8	X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility.		313430	19678	2	2004	These data indicate that mutations in the SOX3 gene are not a common cause of male infertility.	Cohort 56 infertile men with idiopathic oligo-azoospermia 										
135375		hypospadias	DEVELOPMENTAL	DEV	Hypospadias	17	17q24.3-q25.1	SOX9	67628755	67634155		Wang, Y.  et al. 2004	15266301				SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000346.2	Chinese	China	CDC GDPinfo	6662	Hs.642674			European journal of human genetics. 2004 Sep;12(9):706-12	Mutation analysis of five candidate genes in Chinese patients with hypospadias.		608160	23532	2	2004	In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.	Control:controls;Case:90 Chinese hypospadias patients										
135376		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	2	2q37.1	SP110	230741895	230792932		Saito, T.  et al. 2004	15063762				SP110 nuclear body protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004509.2		Japan	CDC GDPinfo	3431	Hs.145150			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		604457	28604	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
135370	N	bone mineral density	METABOLIC	MET		17	17q12-q21	SOST	39186624	39191682	n	Balemans W et al. 2002	12398949				Sclerosteosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025237.2			KGB	50964	Hs.349204			Bone. 2002 Oct;31(4):515-9	Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysis of five polymorphisms.		605740	6758	1	2002	We conclude that , in this population, common allelic variations in the SOST gene do not contribute significantly to the regulation of high or low BMD.	Case:293 women with low bone mineral density;Control:326 women with high mone mineral density										
135372		bone density; fractures, vertebral	METABOLIC	MET	Osteoporosis|Spinal Injuries	17	17q12-q21	SOST	39186624	39191682		Uitterlinden, A. G.  et al. 2004	15514891				Sclerosteosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025237.2		Netherlands	CDC GDPinfo	50964	Hs.349204			American journal of human genetics. 2004 Dec;75(6):1032-45	Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites		605740	23531	2	2004	The molecular mechanism whereby these moderate SOST genotype effects are mediated remains to be elucidated, but it is likely to involve differences in regulation of SOST gene expression.	Cohort 1,939 elderly men and women from a large population-based prospective-cohort study of Dutch whites The Netherlands 										
135373	Y	Myelin deficiencies	OTHER	OTH		22	22q13.1	SOX10	36698264	36713375		Inoue K et al. 1999	10482261				SRY (sex determining region Y)-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006941.3			KGB	6663	Hs.376984			Annals of neurology. 1999 Sep;46(3):313-8	Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.		602229	5605	1	1999												
135367	Y	diabetes, neurological manifestations	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4p16.3-q21	SOD3	24406182	24411565		Strokov, I. A.  et al. 2003	14704872				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1		Russia	CDC GDPinfo	6649	Hs.2420			Acta diabetologica. 2003 Dec;40 Suppl 2:S375-9	Predisposing genetic factors for diabetic polyneuropathy in patients with type 1 diabetes: apopulation-based case-control study		185490	23530	2	2003	Genes encoding the enzymes Mn-SOD and extracellular superoxide dismutase (EC-SOD) were found to be associated with the pathogenesis of DPN.	Cohort 400 Russian white patients with type 1 diabetes 										
135368		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4p16.3-q21	SOD3	24406182	24411565		Wang, X. L.  et al. 2003	12704594				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDPinfo	6649	Hs.2420			Progress in cardiovascular diseases. 2003 Mar-Apr;45(5):361-82	Genetic influence on cigarette-induced cardiovascular disease.		185490	25588	2	2003	Review article		smoking (tobacco)									
135369		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p22-p21	SOS1	39066468	39201067		Barroso, I.  et al. 2003	14551916				Son of sevenless homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005633.2			CDC GDPinfo	6654	Hs.278733			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		182530	27842	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
135363	Y	diabetes, type 2; hypertension; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	4	4p16.3-q21	SOD3	24406182	24411565		Tamai, M.  et al. 2005	15990193				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDPinfo	6649	Hs.2420			Diabetes research and clinical practice. 2006 Feb;71(2):140-5	Extracellular superoxide dismutase gene polymorphism is associated with insulin resistance and the susceptibility to type 2 diabetes.		185490	14052	2	2005												
135364		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	4	4p16.3-q21	SOD3	24406182	24411565			16399992				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDPinfo	6649	Hs.2420			American journal of respiratory and critical care medicine. 2006	Genetically Increased Antioxidative Protection and Decreased Chronic Obstructive Pulmonary Disease		185490	19676	2	2006	 Extracellular superoxide dismutase R213G heterozygosity protects against development of COPD in the Danish general population. This was observed in smokers, but not in nonsmokers.		smoking (tobacco)									
135366	Y	diabetic polyneuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4p16.3-q21	SOD3	24406182	24411565			12815947				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDPinfo	6649	Hs.2420			Molekuliarnaia biologiia. 2003 May-Jun;37(3):404-8	[Association of the SOD2 Ala(-9)Val and SOD3 Arg213Gly polymorphisms with diabetic polyneuropathy in patients with diabetes mellitus type 1]		185490	23529	2	2003	On this evidence, SOD2 and SOD3 were associated with DPN in DM type 1.	Cohort 180 patients with type 1 diabetes 										
135359		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Esfandiary, H.  et al. 2005	15774926				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		147460	28318	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
135361		dramatically increased serum enzyme levels	OTHER	OTH		4	4p16.3-q21	SOD3	24406182	24411565		Folz RJ et al. 1994	7881430				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			KGB	6649	Hs.2420			Human molecular genetics. 1994 Dec;3(12):2251-4	Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels.		185490	5603	1	1994												
135362	N	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	4	4p16.3-q21	SOD3	24406182	24411565		Ukkola O 2001	11350569				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			Y Wang	6649	Hs.2420	Complications		Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		185490	5604	1	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.											
135356		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	6	6q25.3	SOD2	160020138	160034343		Li, D.  et al. 2002	11719088				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		147460	27841	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
135357		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	6	6q25.3	SOD2	160020138	160034343		Ishikawa, K.  et al. 2005	15838728				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		147460	27997	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
135358		longevity	AGING	AGE		6	6q25.3	SOD2	160020138	160034343		Stessman, J.  et al. 2005	15621215				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		147460	27998	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
135353		pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease	6	6q25.3	SOD2	160020138	160034343		Rahman, S. H.  et al. 2004	15131792				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Gastroenterology. 2004 May;126(5):1312-22	Association of antioxidant enzyme gene polymorphisms and glutathione status with severe acute pancreatitis		147460	27224	2	2004	 The functional GSTT-1*A genotype was associated with severe attacks of pancreatitis. Heightened oxidative stress characterized by glutathione depletion may be of importance in mediating the progression from mild to severe pancreatitis.	Control:263:controls;Case:320 patients with acute pancreatitis										
135354		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	6	6q25.3	SOD2	160020138	160034343		Rahman, S. H.  et al. 2005	16047490				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Digestive diseases and sciences. 2005 Jul;50(7):1376-83	Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreatitis: evidence of xenobiotic stress andimpaired antioxidant capacity.		147460	27225	2	2005	We conclude that  the GSTT-1 functional genotype is associated with ICP. Evidence of altered glutathione redox status suggests that this disease modification may be a consequence of oxidative stress or the bioactivation of xenobiotics.											
135355	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Kim, Y. J.  et al. 2005	15734083				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			European journal of obstetrics, gynecology, and reproductive biology. 2005 Mar;119(1):42-6	Oxidative stress-related gene polymorphism and the risk of preeclampsia.		147460	27226	2	2005	 Polymorphisms in the oxidative stress-related genes (CYP1A1, GSTM1, GSTT1, MPO, MnSOD) do not seem to be risk factors for preeclampsia.	Case:121 preeclampsia patients;Control:214 healthy controls with an uncomplicated obstetric:history										
135350		hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6q25.3	SOD2	160020138	160034343		Hsueh, Y. M.  et al. 2005	16076760				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			Journal of toxicology and environmental health Part A. 2005 Sep;68(17-18):1471-84	Genetic polymorphisms of oxidative and antioxidant enzymes and arsenic-related hypertension.		147460	26591	2	2005			arsenic									
135351	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Cocarcinogenesis	6	6q25.3	SOD2	160020138	160034343		Hung, R. J.  et al. 2004	14729580				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Carcinogenesis. 2004 Jun;25(6):973-8	Genetic polymorphisms of MPO, COMT, MnSOD, NQO1, interactions with environmental exposures and bladder cancer risk		147460	26592	2	2004	These findings suggest that individual susceptibility of bladder cancer may be modulated by MPO and MnSOD polymorphisms, and that the combination of genetic factors involved in oxidative stress response with environmental carcinogens may play an important role in bladder carcinogenesis.	Case:201 incident bladder cancer cases Brescia, Northern Italy:1997-2000;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons									
135352		pneumoconiosis, coal workers'	INFECTION	INF	Occupational Diseases|Pneumoconiosis	6	6q25.3	SOD2	160020138	160034343		Zhai, R.  et al. 2002	11977425				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Journal of occupational and environmental medicine. 2002 Apr;44(4):372-7	Genetic polymorphisms of MnSOD, GSTM1, GSTT1, and OGG1 in coal workers' pneumoconiosis		147460	26593	2	2002	Cumulative dust exposures, but not genetic polymorphisms, were associated significantly with the presence of CWP. This study illustrates the complexity of factors that may contribute to the development of CWP.	Control:160 controls (with no radiologic criteria for CWP);Case:99 cases with International Labor Organization chest radiologic criteria for CWP	coal dust smoking (tobacco)									
135347		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	6	6q25.3	SOD2	160020138	160034343		Olson, S. H.  et al. 2004	15196853				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Gynecologic oncology. 2004 Jun;93(3):615-20	Genetic variants in SOD2, MPO, and NQO1, and risk of ovarian cancer.		147460	25586	2	2004	 While these results need to be confirmed in other studies, they point to a possible role for genes involved in oxidative stress in the development of ovarian cancer.	Case:125 hospital-based ovarian cancer cases;Control:193 hospital-based controls										
135348		hearing loss/deafness	OTHER	OTH	Hearing Loss, Noise-Induced|Occupational Diseases|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Fortunato, G.  et al. 2004	15345661				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Clinical chemistry. 2004 Nov;50(11):2012-8	Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss		147460	25587	2	2004	 Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day.	Case male workers from an aircraft factory with noise-induced hearing loss;Control:controls										
135349		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Cheng, T. C.  et al. 2004	15455371				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		147460	26590	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
135343		cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Disease Progression	6	6q25.3	SOD2	160020138	160034343		Stickel, F.  et al. 2005	16157826				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Archives of internal medicine. 2005 Sep;165(16):1835-40	Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis.		147460	25582	2	2005	 Cirrhosis is more likely to develop in C282Y homozygotes with the GSTP1 Val/Val genotype than in those with non-Val/Val genotypes, which in part explains the variable phenotypic expression of HHC and highlights the central role of oxidative stress in its pathogenesis.											
135344		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Martins, A.  et al. 2005	16148556				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			European journal of gastroenterology & hepatology. 2005 Oct;17(10):1099-104	Are genetic polymorphisms of tumour necrosis factor alpha, interleukin-10, CD14 endotoxin receptor or manganese superoxide dismutase associated with alcoholic liver disease?		147460	25583	2	2005	 No association was found between the previously implicated polymorphisms of TNF-alpha, IL-10, CD14 and MnSOD, either individually or simultaneously, and the presence of established ALD.											
135345		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Ambrosone, C. B.  et al. 2005	15705913				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer research. 2005 Feb;65(3):1105-11	Polymorphisms in genes related to oxidative stress (MPO, MnSOD, CAT) and survival after treatment for breast cancer.		147460	25584	2	2005	These data indicate that gene variants that impact oxidative stress modify prognosis after treatment for breast cancer.	Cohort 279 women treated with radiation and/or chemotherapy for incident breast cancer at the Arkansas Cancer Research Center 1985 - 1996 										
135340	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Zhang, Z.  et al. 2003	12673575				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Chinese		CDC GDPinfo	6648	Hs.487046			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):98-102	[Pharmacogenetic assessment of antipsychotic-induced tardive dyskinesia:contribution of 5-hydroxytryptamine 2C receptor gene and of a combination of dopamine D3 variant allele (Gly) and MnSOD wild allele (Val)]		147460	25579	2	2003	 The excess of -697 variant in the promoter regulation region of the HTR2C gene may be a risk factor for the susceptibility to the occurrence of TD in Chinese male patients with schizophrenia. A combination of DRD3 variant allele (Gly) and MnSOD wild allele (Val) may increase the susceptibility to the development of TD.	Case:42 schizophrenics with persistent tardive dyskinesia;Control:59 schizophrenics without tardive dyskinesia										
135341		macular degeneration	VISION	VIS	Macular Degeneration	6	6q25.3	SOD2	160020138	160034343		Kimura, K.  et al. 2000	11124296				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			American journal of ophthalmology. 2000 Dec;130(6):769-73	Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration		147460	25580	2	2000	 The results suggest that manganese superoxide dismutase gene polymorphism is associated with exudative age-related macular degeneration. Microsomal epoxide hydrolase is another enzyme that may be associated with the disease. The exudative form of age-related macular degeneration may have genetic risk factors against oxidative stress and/or effects of xenobiotics. Further association studies in other polymorphic genes for xenobiotic-metabolizing enzymes are needed to elucidate the environmental-genetic interaction in the underlying cause of age-related macular degeneration.	Case:102 patients with the exudative form of age-related macular degeneration who were recruited in the Kagoshima University Hospital.:Japanese between 1993 and 1998;Control:200 systemically healthy individuals who had no senescent ocular disorders and were over 50 years of age.										
135342	N	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pneumoconiosis|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Yucesoy, B.  et al. 2005	15923250				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Thorax. 2005 Jun;60(6):492-5	Lack of association between antioxidant gene polymorphisms and progressive massive fibrosis in coal miners.		147460	25581	2	2005	 The results of this study suggest that polymorphic genotypes within the GST gene cluster and MnSOD do not affect individual susceptibility to PMF.	Control:350 individuals with a similar underground mining tenure but no clinical or histological evidence of lung disease;Case:350 ex-coal miners with progressive massive fibrosis:cases										
135337		diabetes, type 2; macroangiopathy; microangiopathy	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	6	6q25.3	SOD2	160020138	160034343		Ukkola, O.  et al. 2001	11350569				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		147460	23527	2	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.	Case:239 patients with type 2 diabetes North Finland;Control:245 control subjects										
135338	N	radiotherapy	UNKNOWN	UNK	Breast Neoplasms|Radiation Injuries	6	6q25.3	SOD2	160020138	160034343		Andreassen, C. N.  et al. 2005	15878096				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		147460	25577	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
135339		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Kocabas, N. A.  et al. 2005	15386537				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Turkey	CDC GDPinfo	6648	Hs.487046			Cell biochemistry and function. 2005 Jan-Feb;23(1):73-6	Genetic polymorphism of manganese superoxide dismutase (MnSOD) and breast cancer susceptibility.		147460	25578	2	2005												
135334		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Liu, G.  et al. 2004	15331175				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer letters. 2004 Oct;214(1):69-79	MPO and SOD2 polymorphisms, gender, and the risk of non-small cell lung carcinoma.		147460	23524	2	2004	No associations were found in men or in women carrying the MPO GG wildtype genotype.	Control:1,119:control;Case:830 non-small cell lung carcinoma patients										
135335		oxidative injury	OTHER	OTH	DNA Damage	6	6q25.3	SOD2	160020138	160034343		Park, S. Y.  et al. 2005	16084535				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Mutation research. 2006 Jan;593(2-Jan):108-15	Effect of genetic polymorphisms of MnSOD and MPO on the relationship between PAH exposure and oxidative DNA damage.		147460	23525	2	2005			polycyclic aromatic hydrocarbons									
135336	Y	steatohepatitis, non-alcoholic	UNKNOWN	UNK	Fatty Liver|Hepatitis, Chronic|Syndrome	6	6q25.3	SOD2	160020138	160034343		Namikawa, C.  et al. 2004	15094225				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Journal of hepatology. 2004 May;40(5):781-6	Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis.		147460	23526	2	2004	 The G allele in the MTP promoter leads to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. The T allele in MnSOD mitochondrial targeting sequence leads to less transport of MnSOD to the mitochondria. Therefore, functional polymorphisms in MTP and MnSOD may be involved in determining susceptibility of NASH.	Control:150 healthy controls;Case:63 patients with biopsy-proven non-alcoholic:steatohepatitis										
135331		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Zhang, Z. J.  et al. 2003	12960753				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		China	CDC GDPinfo	6648	Hs.487046			Psychiatric genetics. 2003 Sep;13(3):187-92	Interaction between polymorphisms of the dopamine D3 receptor and manganese superoxide dismutase genes in susceptibility to tardive dyskinesia.		147460	23521	2	2003	 These results indicate a possible synergistic effect of genetic factors influencing mitochondrial free radical scavenging and dopamine receptor function on the susceptibility to tardive dyskinesia.	Case:42 Chinese Han schizophrenic patients with persistent tardive dyskinesia;Control:59 Chinese Han schizophrenic patients consistently without tardive dyskinesia										
135332		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Knight, J. A.  et al. 2004	14744747				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Ontario	CDC GDPinfo	6648	Hs.487046			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):146-9	Genetic variants of GPX1 and SOD2 and breast cancer risk at the Ontario site of the Breast Cancer Family Registry.		147460	23522	2	2004	There is a significant trend of increasing risk with increasing number of alleles with four GCG repeats (P = 0.03). This variant has not previously been reported to be associated with breast cancer.	Control:372:controls;Case:399 breast cancer cases										
135333		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Ichimura, Y.  et al. 2004	15247771				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			The Journal of urology. 2004 Aug;172(2):728-32	Increased risk of bladder cancer associated with a glutathione peroxidase 1 codon 198 variant.		147460	23523	2	2004	 The GPX1 Pro/Leu genotype may significantly increase the risk of bladder cancer and the increased risk may be modified by the Ala-9Val MnSOD polymorphism. The GPX1 genotype may further affect the disease status of bladder cancer.	Control:209 normal controls;Case:213 bladder cancer patients										
135328		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	6	6q25.3	SOD2	160020138	160034343		Yen, J. H.  et al. 2003	12880680				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			Immunology letters. 2003 Aug;88(2):113-6	Cytochrome P450 1A1 and manganese superoxide dismutase genes polymorphisms in ankylosing spondylitis		147460	23518	2	2003	 CYP1A1 4887A may be a protective factor for the development of AS in Taiwan. However, MnSOD gene polymorphisms are not associated with the susceptibility to AS.	Case:70 patients with ankylosing spondylitis:Taiwan;Control:93 healthy controls										
135329		arthritis	IMMUNE	IMM	Arthritis, Reactive	6	6q25.3	SOD2	160020138	160034343		Yen, J. H.  et al. 2003	14687717				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Immunology letters. 2003 Dec;90(3-Feb):151-4	Cytochrome P450 1A1 and manganese superoxide dismutase genes polymorphisms in reactive arthritis.		147460	23519	2	2003	CYP1A1 4887A may be a risk factor for the development of reactive arthritis, especially in the presence of Mn SOD 1183T/T.	Case:43 patients with reactive arthritis following Chlamydia trachomatis infection;Control:92 healthy controls										
135330		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Yen, J. H.  et al. 2004	15088300				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			The Journal of rheumatology. 2004 Apr;31(4):736-40	Cytochrome P450 1A1 and manganese superoxide dismutase gene polymorphisms in Bechet's disease.		147460	23520	2	2004	 Simultaneous presence of CYP1A1 4889G and 4887A is associated with development of BD in Taiwan.	Case:51 patients with Behcet's disease;Control:91 healthy controls										
135325		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Gaudet, M. M.  et al. 2005	16215873				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer causes & control. 2005 Dec;16(10):1225-34	MnSOD Val-9Ala Genotype, Pro- and Anti-oxidant Environmental Modifiers, and Breast Cancer Among Women on Long Island, New York.		147460	19674	2	2005			alcohol diet nonsteroidal anti-inflammatory (NSAID) smoking (tobacco)									
135326	Y	radiotherapy response	UNKNOWN	UNK	Breast Neoplasms|Fibrosis	6	6q25.3	SOD2	160020138	160034343		Andreassen, C. N.  et al. 2003	14643949				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Radiotherapy and oncology. 2003 Nov;69(2):127-35	Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes.		147460	23516	2	2003	 The present study established significant correlations between five SNPs and risk of radiation-induced normal tissue reactions. These findings support the assumption that clinical normal tissue radiosensitivity should be regarded as a phenomenon dependent on the combined effect of variation in several genes and indicate that models based on multiple genetic markers may have the potential to predict normal tissue responses after radiotherapy.	Cohort 41 patients who received post-mastectomy radiotherapy in 1978-1982 										
135327	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Yen, J. H.  et al. 2003	12590982				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			Human immunology. 2003 Mar;64(3):366-73	Manganese superoxide dismutase and cytochrome P450 1A1 genes polymorphisms in rheumatoid arthritis in Taiwan.		147460	23517	2	2003	MnSOD gene polymorphisms are not related to susceptibility to RA in Taiwan, whereas individuals with CYP1A1 4887A tend to avoid the development of RA. Moreover, CYP1A1 4889G/G and 4887C/A may play a role in the development of Sjogren's syndrome, especially in the presence of MnSOD 1183T/T. These findings are preliminary. A further confirmation study is necessary.	Case:112 patients with rheumatoid arthritis:Taiwan;Control:96:controls										
135322	Y	diabetes, neurological manifestations	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Strokov, I. A.  et al. 2003	14704872				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Russia	CDC GDPinfo	6648	Hs.487046			Acta diabetologica. 2003 Dec;40 Suppl 2:S375-9	Predisposing genetic factors for diabetic polyneuropathy in patients with type 1 diabetes: apopulation-based case-control study		147460	19668	2	2003	Genes encoding the enzymes Mn-SOD and extracellular superoxide dismutase (EC-SOD) were found to be associated with the pathogenesis of DPN.	Cohort 400 Russian white patients with type 1 diabetes 										
135323	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Wang, L. I.  et al. 2004	15213518				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Massachusetts	CDC GDPinfo	6648	Hs.487046			Journal of occupational and environmental medicine. 2004 Jun;46(6):556-64	Asbestos exposure, manganese superoxide dismutase (MnSOD) genotype, and lung cancer risk.		147460	19671	2	2004	We observed no statistically significant interaction between MnSOD genotype and asbestos exposure for lung cancer risk.	Case:811 white lung cancer cases;Control:957 friend/spouse controls	asbestos									
135324	Y	cirrhosis, alcoholic; liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Nahon, P.  et al. 2005	15765450				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	French		CDC GDPinfo	6648	Hs.487046			Clinical gastroenterology and hepatology. 2005 Mar;3(3):292-8	Genetic dimorphism in superoxide dismutase and susceptibility to alcoholic cirrhosis, hepatocellular carcinoma, and death.		147460	19673	2	2005	 The presence of at least 1 Ala MnSOD allele increases the risk for developing cirrhosis in French alcoholics, and increases the rates of HCC development and death in cirrhotic patients.	Case:264 patients with alcoholic cirrhosis;Control:94 control subjects										
135319	Y	cholesterol; diabetes, type 2; hypertension; nephropathy, diabetic; albuminuria	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	6	6q25.3	SOD2	160020138	160034343			16324912				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Korean		CDC GDPinfo	6648	Hs.487046			Metabolism:  clinical and experimental. 2006 Jan;55(1):7-Jan	Manganese superoxide dismutase gene polymorphism (V16A) is associated with stages of albuminuria in Korean type 2 diabetic patients		147460	14051	2	2006												
135320	N	malignant mesothelioma; plaques, asbestosis and/or pleural	OTHER	OTH	Mesothelioma|Pleural Neoplasms|Asbestosis	6	6q25.3	SOD2	160020138	160034343		Hirvonen, A.  et al. 2002	11849743				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer letters. 2002 Apr;178(1):71-4	Manganese superoxide dismutase genotypes and asbestos-associated pulmonary disorders.		147460	19665	2	2002	This study therefore suggest no major modifying role for the MnSOD polymorphism in development of asbestos-associated pulmonary disorders.	Cohort 124 male Finnish asbestos insulators who were all classified as having been exposed to high levels of asbestos 										
135321	N	breast cancer	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Green, H.  et al. 2002	12063011				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Radiotherapy and oncology. 2002 May;63(2):213-6	Variation in the manganese superoxide dismutase gene (SOD2) is not a major cause of radiotherapy complications in breast cancer patients.		147460	19666	2	2002	 Sequence variation in SOD2 is not the major cause of radiotherapy complications in women with breast cancer.	Control:39 patients who showed no clinically detectable reaction after radiotherapy;Case:41 breast cancer patients developing marked changes in breast appearance after radiotherapy										
135315		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Li, H.  et al. 2005	15781667				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer research. 2005 Mar;65(6):2498-504	Manganese superoxide dismutase polymorphism, prediagnostic antioxidant status, and risk of clinical significant prostate cancer.		147460	14040	2	2005	Both endogenous and exogenous antioxidants play an important and interdependent role in preventing clinically significant prostate cancer.	Case:567 prostate cancer cases nested in the prospective Physicians' Health Study;Control:764 controls nested in the prospective Physicians' Health Study	antioxidants selenium									
135316	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Bergman, M.  et al. 2005	15883815				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Journal of cancer research and clinical oncology. 2005 Jul;131(7):439-44	Polymorphism in the manganese superoxide dismutase (MnSOD) gene and risk of breast cancer in young women.		147460	14042	2	2005	 The present study suggests that MnSOD may be implicated in breast carcinogenesis in young women.	Case:118 early onset breast cancer patients (;Control:174 age-matched controls										
135317		breast cancer; cytogenetic studies; prostate cancer; longevity	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms|DNA Damage	6	6q25.3	SOD2	160020138	160034343		Taufer, M.  et al. 2005	15933380				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Apr;60(4):432-8	Is the Val16Ala manganese superoxide dismutase polymorphism associated with the aging process?		147460	14044	2	2005	We did not find an association between SOD2 polymorphisms and mortality. However, the AA genotype was associated with increased risk for prostate and breast cancer, immunosenescence profile, as well as DNA damage. These data suggest that SOD2 presents characteristics that support the free radical theory of aging.											
135312		prostate cancer	CANCER	CAN		6	6q25.3	SOD2	160020138	160034343		Martin, R. C.  et al. 2004	15598343	(-102C>T)		promoter	Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			BMC genetics [electronic resource]. 2004 Dec;5(1):33	Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.		147460	14035	2	2004	 This report represents the first description of the MnSOD -102C>T polymorphism in human subjects by a novel Taqman allelic discrimination assay. This method should enable molecular epidemiological studies to evaluate possible associations of this polymorphism with malignancies and other diseases related to reactive oxygen species.	Cohort 130 Caucasians Warsaw, Poland 										
135313	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Akyol, O.  et al. 2005	15610954	Ala(-9)Val			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Progress in neuro-psychopharmacology & biological psychiatry. 2005 Jan;29(1):123-31	Association between Ala-9Val polymorphism of Mn-SOD gene and schizophrenia		147460	14036	2	2005	This association between -9Ala Mn-SOD allele and schizophrenia suggests that -9Ala variant may have a contribution in the physiopathogenesis of schizophrenia. Further investigations are warranted in larger populations with other susceptible genes that might be associated with schizophrenia.	Case:153 schizophrenic patients;Control:196 healthy controls										
135314	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	6	6q25.3	SOD2	160020138	160034343		Martin, R. C.  et al. 2005	15734485				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Polish	Poland	CDC GDPinfo	6648	Hs.487046			The Journal of surgical research. 2005 Mar;124(1):92-7	No apparent association between genetic polymorphisms (-102 C>T) and (-9 T>C) in the human manganese superoxide dismutase gene and gastric cancer(1).		147460	14039	2	2005	 The association of the manganese superoxide dismutase polymorphisms at -102 C>T and the -9 T>C were not found to be associated with gastric cancer in a Polish case-control study.	Case:130 gastric cancer cases:Warsaw, Poland										
135309	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Cai, Q.  et al. 2004	15535847				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Chinese		CDC GDPinfo	6648	Hs.487046			Breast cancer research. 2004 ;6(6):R647-55	Genetic polymorphism in the manganese superoxide dismutase gene, antioxidant intake, and breast cancer risk: results from the Shanghai BreastCancer Study.		147460	14032	2	2004	 The present study provides some evidence that genetic polymorphism in the MnSOD gene may be associated with increased risk of breast cancer among Chinese women with high levels of oxidative stress or low intake of antioxidants. Studies with a larger sample size are needed to confirm the findings.	Case:1,125 Chinese breast cancer cases:1996 - 1998;Control:1,197 age-frequency-matched controls										
135310	N	asthma	IMMUNE	IMM	Asthma	6	6q25.3	SOD2	160020138	160034343		Gurel, A.  et al. 2004	15589819	Ala(-9)Val			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Clinical biochemistry. 2004 Dec;37(12):1117-20	The Ala-9Val polymorphism in the mitochondrial targeting sequence (MTS) of the manganese superoxide dismutase gene is not associated with juvenile-onset asthma.		147460	14033	2	2004	 These results suggest no major modifying role for the Mn-SOD gene polymorphism in patients with asthma.	Case asthmatic patients;Control:controls										
135311	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathies|Hemochromatosis	6	6q25.3	SOD2	160020138	160034343		Valenti, L.  et al. 2004	15591282				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Italy	CDC GDPinfo	6648	Hs.487046			Journal of medical genetics. 2004 Dec;41(12):946-50	The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis.		147460	14034	2	2004	In patients with hereditary haemochromatosis, the MnSOD genotype affects the risk of cardiomyopathy related to iron overload and possibly to other known and unknown risk factors and could represent an iron toxicity modifier gene.	Control:212 healthy controls;Case:217 consecutive unrelated probands with:haemochromatosis										
135306	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Millikan, R. C.  et al. 2004	15217492	Ala(-9)Val			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	African American	North Carolina	CDC GDPinfo	6648	Hs.487046			Breast cancer research. 2004 ;6(4):R264-74	Manganese superoxide dismutase Ala-9Val polymorphism and risk of breast cancer in a population-based case-control study of African Americans and whites.		147460	14025	2	2004	 The MnSOD genotype may contribute to an increased risk of breast cancer in the presence of specific environmental exposures. These results provide further evidence for the importance of reactive oxygen species and of oxidative DNA damage in the etiology of breast cancer.	Control:1,812 controls (677 African Americans and 1135 whites);Case:2,025 invasive and in situ breast cancer cases (760 African Americans and 1265 whites) North Carolina										
135307	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6q25.3	SOD2	160020138	160034343		Yen, J. H.  et al. 2003	15266664				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Disease markers. 2003 ;19(6):263-5	Manganese superoxide dismutase gene polymorphisms in psoriatic arthritis.		147460	14026	2	2003	Therefore, MnSOD 1183C polymorphisms may be a precipitating factor for the development of psoriatic arthritis.	Case:52 patients with psoriatic arthritis;Control:90 healthy controls										
135308	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Liu, G.  et al. 2004	15534883				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer. 2004 Dec;101(12):2802-8	The SOD2 Val/Val genotype enhances the risk of nonsmall cell lung carcinoma by p53 and XRCC1 polymorphisms.		147460	14031	2	2004	 The SOD2 Val/Val genotype may increase the risk of NSCLC carried by XRCC1 and p53 polymorphisms, particularly for adenocarcinoma.	Control:1,233 healthy controls;Case:935 Caucasian patients with nonsmall cell lung:carcinoma		p53	Arg72Pro	XRCC1	Arg399Gln	SOD2	Ala16Val	Y		lung cancer
135303	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.3	SOD2	160020138	160034343		Woodson, K.  et al. 2003	12948282				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Finnish	Finland	CDC GDPinfo	6648	Hs.487046			Cancer causes & control. 2003 Aug;14(6):513-8	Manganese superoxide dismutase (MnSOD) polymorphism, alpha-tocopherol supplementation and prostate cancer risk in the alpha-tocopherol, beta-carotene cancer prevention study (Finland).		147460	14015	2	2003	 These data suggest an effect of the MnSOD ala/ala genotype on the development of prostate cancer. Our observation of a stronger association with high-grade tumors may have prognostic implications that should also be pursued.	Control:190 controls matched for age, intervention group, and:clinic;Case:197 prostate cancer cases from the the Alpha-Tocopherol, Beta-Carotene Cancer Prevention:Study	alpha-tocopherol									
135304	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Egan, K. M.  et al. 2003	12963120				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Cancer letters. 2003 Sep;199(1):27-33	MnSOD polymorphism and breast cancer in a population-based case-control study.		147460	14017	2	2003	Results do not support any overall association of the Ala-9Val MnSOD polymorphism to the development of breast cancer.	Case:476 breast cancer cases;Control:502:controls										
135305	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Tamimi, R. M.  et al. 2004	15184255				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		United States	CDC GDPinfo	6648	Hs.487046			Cancer epidemiology, biomarkers & prevention. 2004 Jun;13(6):989-96	Manganese superoxide dismutase polymorphism, plasma antioxidants, cigarette smoking, and risk of breast cancer.		147460	14024	2	2004	These data suggest that the Ala allele of MnSOD may modify breast cancer risk among current smokers, but is not an independent risk factor for breast cancer.	Control:1,205 matched controls;Case:968 incident cases of breast cancer from a nested case-control study within the Nurses' Health Study:cohort:1989-1998	alcohol diet hormone replacement therapy smoking (tobacco)									
135300	Y	diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	6	6q25.3	SOD2	160020138	160034343		Nomiyama, T.  et al. 2003	12624725				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Japanese		CDC GDPinfo	6648	Hs.487046			Journal of human genetics. 2003 ;48(3):138-41	The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients.		147460	14010	2	2003	ccordingly, the Val(16)Ala polymorphism of Mn-SOD may be unrelated to the etiology of type 2 diabetes, but it seems to be associated with diabetic nephropathy in Japanese type 2 diabetic patients.	Control:261 nondiabetic Japanese healthy subjects;Case:478 Japanese type 2 diabetic patients										
135301	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Kakko, S.  et al. 2003	12732398				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Finland	CDC GDPinfo	6648	Hs.487046			Atherosclerosis. 2003 May;168(1):147-52	The signal sequence polymorphism of the MnSOD gene is associated with the degree of carotid atherosclerosis		147460	14012	2	2003	In conclusion, the signal sequence polymorphism of the MnSOD gene is a minor determinant of carotid IMT pointing out the importance of redox-balance in the atherogenesis.	Case middle-aged hypertensive subjects;Control middle-aged controls										
135302	Y	diabetic polyneuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343			12815947	Ala(-9)Val			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Molekuliarnaia biologiia. 2003 May-Jun;37(3):404-8	[Association of the SOD2 Ala(-9)Val and SOD3 Arg213Gly polymorphisms with diabetic polyneuropathy in patients with diabetes mellitus type 1]		147460	14013	2	2003	On this evidence, SOD2 and SOD3 were associated with DPN in DM type 1.	Cohort 180 patients with type 1 diabetes 										
135297	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6q25.3	SOD2	160020138	160034343		Stoehlmacher, J.  et al. 2002	11836586	(-9Ala/-9Val )			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Oncology reports. 2002 Mar-Apr;9(2):235-8	The -9Ala/-9Val polymorphism in the mitochondrial targeting sequence of the manganese superoxide dismutase gene (MnSOD) is associated with age among Hispanics with colorectal carcinoma.		147460	14005	2	2002	The data demonstrate that the -9Val/-9Ala substitution is more common in Hispanics than in non-Hispanic whites. Furthermore, the data suggest that the alanine allele of this polymorphism may be associated with an increased risk to develop colorectal cancer at a young age in Hispanics.	Control:121 controls (63 Hispanic, 58 non-Hispanic);Case:125 colorectal cancer cases (64 Hispanic, 61:non-Hispanic)										
135298		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Zhang, Z.  et al. 2002	12127599				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Journal of psychiatric research. 2002 Sep-Oct;36(5):317-24	The increased activity of plasma manganese superoxide dismutase in tardive dyskinesia is unrelated to the Ala-9Val polymorphism.		147460	14007	2	2002	We conclude that  while we have further evidence of a disturbance in the mechanisms regulating oxidative free radicals in TD, this effect is not under the control of the genetic polymorphism investigated here.	Case:42/59 male Chinese schizophrenic patients with (n=42) and:without (n=59) TD;Control:50 normal male controls	antipsychotic drug									
135299	N	liver disease; oxidative stress	OTHER	OTH	Hepatitis, Alcoholic|Liver Cirrhosis	6	6q25.3	SOD2	160020138	160034343		Stewart, S. F.  et al. 2002	12447859				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Hepatology (Baltimore, Md). 2002 Dec;36(6):1355-60	Valine-alanine manganese superoxide dismutase polymorphism is not associated with alcohol-induced oxidative stress or liver fibrosis.		147460	14008	2	2002	In conclusion, in our population Val-Ala polymorphism in Mn-SOD influences neither susceptibility to alcohol-induced liver fibrosis nor alcohol-induced oxidative stress.	Control:218 drinkers without liver disease;Case:281 patients with advanced alcohol-induced liver:disease										
135293		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Pociot F 2004	7605869				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Danish	Denmark	Y Wang	6648	Hs.487046			Autoimmunity. 1994 ;19(3):169-78	Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood		147460	5602	1	2004												
135295	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Mitrunen, K.  et al. 2001	11323405				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Carcinogenesis. 2001 May;22(5):827-9	Association between manganese superoxide dismutase (MnSOD) gene polymorphism and breast cancer risk.		147460	14001	2	2001	This finding supports the proposal that MnSOD genotypes may modify individual breast cancer risk.	Control:482 Caucasian controls:Finnish;Case:483 Caucasian breast cancer cases:Finnish										
135296	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.3	SOD2	160020138	160034343		Farin, F. M.  et al. 2001	11481695				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Movement disorders. 2001 Jul;16(4):705-7	Genetic polymorphisms of superoxide dismutase in Parkinson's disease		147460	14003	2	2001	These results indicate that SOD gene variants do not contribute to PD pathogenesis.	Case:45 idiopathic Parkinson's disease cases;Control:49 controls from a population-based case-control study										
135290		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Pociot F 2004	7605869				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Danish	Denmark	Y Wang	6648	Hs.487046			Autoimmunity. 1994 ;19(3):169-78	Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood		147460	5599	1	2004												
135291		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Knight JA 2004	14744747				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	caucasian	Ontario	KGB	6648	Hs.487046			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):146-9	Genetic variants of GPX1 and SOD2 and breast cancer risk at the Ontario site of the Breast Cancer Family Registry.		147460	5600	1	2004	There is a significant trend of increasing risk with increasing number of alleles with four GCG repeats (P = 0.03). This variant has not previously been reported to be associated with breast cancer.	Control:372:controls;Case:399 breast cancer cases										
135292	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	6	6q25.3	SOD2	160020138	160034343	0.03	Nomiyama T 2003	12624725	Val(16)Ala			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Japanese		Y Wang	6648	Hs.487046	diabetic nephropathy		Journal of human genetics. 2003 ;48(3):138-41	The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients.		147460	5601	1	2003	ccordingly, the Val(16)Ala polymorphism of Mn-SOD may be unrelated to the etiology of type 2 diabetes, but it seems to be associated with diabetic nephropathy in Japanese type 2 diabetic patients.	Control:261 nondiabetic Japanese healthy subjects;Case:478 Japanese type 2 diabetic patients										
135286	N	asbestos-associated pulmonary disorders	OTHER	OTH	Mesothelioma|Pleural Neoplasms|Asbestosis	6	6q25.3	SOD2	160020138	160034343	n	Hirvonen A et al. 2002	11849743				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Finnish		KGB	6648	Hs.487046			Cancer letters. 2002 Apr;178(1):71-4	Manganese superoxide dismutase genotypes and asbestos-associated pulmonary disorders.		147460	5595	1	2002	This study therefore suggest no major modifying role for the MnSOD polymorphism in development of asbestos-associated pulmonary disorders.	Cohort 124 male Finnish asbestos insulators who were all classified as having been exposed to high levels of asbestos										
135287	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Egan KM 2003	12963120				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	unknown		KGB	6648	Hs.487046			Cancer letters. 2003 Sep;199(1):27-33	MnSOD polymorphism and breast cancer in a population-based case-control study.		147460	5596	1	2003	Results do not support any overall association of the Ala-9Val MnSOD polymorphism to the development of breast cancer.	Case:476 breast cancer cases;Control:502:controls										
135283		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	21	21q22.1	SOD1	31953805	31963114		Watanabe, I.  et al. 2003	12732844				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Japanese	Japan	CDC GDPinfo	6647	Hs.443914			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		147450	28642	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
135284	Y	diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1	6	6q25.3	SOD2	160020138	160034343		Savost'ianov KV et al. 2002	12469626				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Moscow	Moscow	KGB	6648	Hs.487046			Ter Arkh. 2002 ;74(10):25-7	Polymorphic locus D6S392 near the Mn-dependent superoxide dismutase gene is associated with diabetes mellitus in the Moscow population trans Polimofnyi lokus D6S392 riadom s genom Mn-zavisimoi superoksiddismutazy sviazan s sakharnym diabetom v Moskovsko		147460	5593	1	2002	 Polymorphic locus D6S392 is closely associated with development of DM in Moscow population. This may indicate possible participation of the gene SOD2 in development of this pathology.											
135285	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Mitrunen K et al. 2001	11323405				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			KGB	6648	Hs.487046			Carcinogenesis. 2001 May;22(5):827-9	Association between manganese superoxide dismutase (MnSOD) gene polymorphism and breast cancer risk.		147460	5594	1	2001	This finding supports the proposal that MnSOD genotypes may modify individual breast cancer risk.	Control:482 Caucasian controls:Finnish;Case:483 Caucasian breast cancer cases:Finnish										
135280	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	21	21q22.1	SOD1	31953805	31963114		Broom, W. J.  et al. 2004	15623718				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Neurology. 2004 Dec;63(12):2419-22	No association of the SOD1 locus and disease susceptibility or phenotype in sporadic ALS.		147450	19661	2	2004	In this study of 233 ALS cases and 248 controls the authors found no significant association between four individual single nucleotide polymorphisms and a deletion spanning the SOD1 locus (or their combined haplotypes), and disease susceptibility, or phenotype.	Case:233 amyotrophic lateral sclerosis cases;Control:248:controls										
135281	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Battistini, S.  et al. 2005	15789135				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Italian	Italy	CDC GDPinfo	6647	Hs.443914			Journal of neurology. 2005 Jul;252(7):782-8	SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.		147450	19662	2	2005	No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS.	Cohort 264 patients (39 familal and 225 sporadic) of Italian origin 										
135282		Alzheimer's disease; ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Alzheimer Disease|Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Restagno, G.  et al. 2005	16036425				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Amyotrophic lateral sclerosis and other motor neuron disorders. 2005 Mar;6(1):45-9	The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.		147450	19663	2	2005												
135277		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Mayeux, V.  et al. 2003	12783432				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Annals of neurology. 2003 Jun;53(6):815-8	N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for diseasecausation.		147450	19658	2	2003	Our data show that, despite a possible role of susceptibility factor for ALS, N19S alone cannot be considered as a direct cause for the disease.	Case:180 amyotrophic lateral sclerosis index cases;Control:268:controls										
135278		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Niemann, S.  et al. 2004	15258228				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	German	Germany	CDC GDPinfo	6647	Hs.443914			Journal of neurology, neurosurgery, and psychiatry. 2004 Aug;75(8):1186-8	Familial ALS in Germany: origin of the R115G SOD1mutation by a founder effect.		147450	19659	2	2004	These findings suggest that the R115G mutation in the German population originates from a common founder.	Cohort 75 affected familial amyotrophic lateral sclerosis patients from a large German cohort 										
135279		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Neuroblastoma|Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Wang, X. S.  et al. 2004	15546588				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Journal of the neurological sciences. 2004 Dec;227(1):27-33	Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences.		147450	19660	2	2004	These data provide compelling evidence for a role for the Hfe mutation in etiopathogenesis of ALS and warrant further investigation.	Control patients without identifiable neuromuscular disease, or with neuromuscular diseases other than:ALS;Case patients with sporadic amyotrophic lateral:sclerosis										
135274		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Andersen, P. M.  et al. 2001	11675874				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Russian	Russia	CDC GDPinfo	6647	Hs.443914			Amyotrophic lateral sclerosis and other motor neuron disorders. 2001 Jun;2(2):63-9	The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation.		147450	19654	2	2001	 The finding makes the D90A mutation the most prevalent CuZn-SOD mutation globally and has implications for interpreting the recent reports of D90A-heterozygous ALS patients in North America and Europe.	Cohort individuals from different ethnic populations of the Russian Federation 										
135275		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Ceroni, M.  et al. 2001	11996514				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Functional neurology. 2001 ;16(4 Suppl):171-80	Amyotrophic lateral sclerosis and SOD1 gene: anoverview		147450	19655	2	2001	Review article											
135276	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Mancuso, M.  et al. 2002	12710511				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Italian	Italy	CDC GDPinfo	6647	Hs.443914			Amyotrophic lateral sclerosis and other motor neuron disorders. 2002 Dec;3(4):215-8	A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis.		147450	19656	2	2002	Our results confirm that recessive D90A mutation is present in Italy and it is associated with the phenotype already described A screening for that mutation, easily made by RFLP, should be made in sporadic ALS patients, especially where clinical investigation indicates its presence.	Case:56 Italian patients with sporadic ALS north-west Tuscany										
135272	N	diabetes, type 2; macroangiopathy; microangiopathy	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	21	21q22.1	SOD1	31953805	31963114		Ukkola, O.  et al. 2001	11350569				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		147450	14002	2	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.	Case:239 patients with type 2 diabetes North Finland;Control:245 control subjects										
135273		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Motor Neuron Disease	21	21q22.1	SOD1	31953805	31963114		Aggarwal, A.  et al. 2001	11561030				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDPinfo	6647	Hs.443914			Journal of neurology, neurosurgery, and psychiatry. 2001 Oct;71(4):478-81	Normal complement of motor units in asymptomatic familial (SOD1 mutation) amyotrophic lateral sclerosis carriers.		147450	19653	2	2001	 The finding that presymptomatic SOD1 mutation carriers have a full complement of motor neurons indicates that mutation carriers must have normal survival of motor neurons until rapid and widespread cell death of these neurons occurs, coinciding with the onset of clinical features. This implies that symptomatic ALS is not the end result of a slow attrition of motor neurons.	Control age and sex matched family controls who did not carry the SOD1 mutation and population controls;Case:87 asymptomatic carriers of the Cu, Zn superoxide dimutase 1 (SOD1) gene										
135267	Y	amyotrophic lateral sclerosis cause novel protein interactions	OTHER	OTH	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Kunst CB et al. 1997	8988176				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			KGB	6647	Hs.443914			Nature genetics. 1997 Jan;15(1):91-4	Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions.		147450	5588	1	1997												
135268	Y	familial amyotrophic lateral sclerosis.	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Rosen DR et al. 1993	8446170				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			KGB	6647	Hs.443914			Nature. 1993 Mar;362(6415):59-62	Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.		147450	5589	1	1993												
135270	Y	rapidly progressive familial amyotrophic lateral sclerosis	OTHER	OTH	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Kohno S et al. 1999	10624810				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			KGB	6647	Hs.443914			Neuroscience letters. 1999 Dec;276(2):135-7	A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis.		147450	5591	1	1999												
135263		chronic myeloid leukaemia.	OTHER	OTH	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Disease Progression	16	16p13.13	SOCS1	11255774	11257540		Liu TC 2003	14616969				Suppressor of cytokine signaling 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003745.1			KGB	8651	Hs.50640			British journal of haematology. 2003 Nov;123(4):654-61	Epigenetic alteration of the SOCS1 gene in chronic myeloid leukaemia.		603597	6581	1	2003												
135265	Y	slowly progressive ALS	OTHER	OTH	Amyotrophic Lateral Sclerosis|Disease Progression	21	21q22.1	SOD1	31953805	31963114		Segovia-Silvestre T et al. 2002	12215228				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4		Spain	KGB	6647	Hs.443914			Amyotrophic lateral sclerosis and other motor neuron disorders. 2002 Jun;3(2):69-74	A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS.		147450	5586	1	2002												
135266	Y	familial amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	21	21q22.1	SOD1	31953805	31963114		Morita M et al. 1996	8907321				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Japanese	Japan	KGB	6647	Hs.443914			Neuroscience letters. 1996 Feb;205(2):79-82	A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.		147450	5587	1	1996												
135260		scoliosis	OTHER	OTH	Scoliosis|Inversion, Chromosome	8	8q11-q12	SNTG1	50987149	51867980		Bashiardes, S.  et al. 2004	15088139				Syntrophin, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018967.2			CDC GDPinfo	54212	Hs.584914			Human genetics. 2004 Jun;115(1):81-9	SNTG1, the gene encoding gamma1-syntrophin: acandidate gene for idiopathic scoliosis.		608714	19649	2	2004	Thus, although genetic heterogeneity or multiple alleles cannot be ruled out, the 6-bp deletion does not consistently co-segregate with the disease in this family.	Cohort 152 sporadic idiopathic scoliosis patients 										
135261	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q25	SOAT1	177529639	177591076		Zhao, F. G.  et al. 2005	16043284				Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003101.4		China	CDC GDPinfo	6646	Hs.496383			Neuroscience letters. 2005 Nov;388(1):17-20	Association between acyl-coenzyme A: cholesterolacyltransferase gene and risk for Alzheimer's disease in Chinese.		102642	19651	2	2005												
135262		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q25	SOAT1	177529639	177591076		Papassotiropoulos, A.  et al. 2005	16013913				Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003101.4		Greece|Switzerland	CDC GDPinfo	6646	Hs.496383			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		102642	27622	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
135256	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q23.2-q23.3	SNCG	88708392	88712995		Su, J.  et al. 2003	14556204				Synuclein, gamma (breast cancer-specific protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003087.1			CDC GDPinfo	6623	Hs.349470			Zhonghua yi xue yi chuan xue za zhi. 2003 Oct;20(5):444-6	[Study on gamma-synuclein gene in patients with idiopathic Parkinson's disease]		602998	19648	2	2003	 These data do not support that gamma-synuclein gene C243G and A377T polymorphisms are involved in idiopathic PD onset in the Han population of Shanghai area.	Case:145 Chinese Han unrelated idiopathic Parkinson's disease patients:Shanghai;Control:184 age-matched healthy controls										
135257		inherited myopathy	OTHER	OTH	Muscular Dystrophies	20	20q11.2	SNTA1	31459423	31495359		Jones KJ 2003	12899872				Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003098.2			KGB	6640	Hs.31121			Neuromuscular disorders. 2003 Aug;13(6):456-67	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.			5583	1	2003												
135258		inherited myopathy	OTHER	OTH	Muscular Dystrophies	8	8q23-q24	SNTB1	121619225	121893910		Jones KJ 2003	12899872				Syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021021.2			KGB	6641	Hs.371902			Neuromuscular disorders. 2003 Aug;13(6):456-67	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.		600026	5584	1	2003												
135252		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Ferrarese, C.  et al. 2001	11487204				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Neurological sciences. 2001 Feb;22(1):65-6	Decreased platelet glutamate uptake and genetic risk factors in patients with Parkinson's disease		163890	23513	2	2001	Genetic studies of this population did not show differences between PD and controls, nor correlations with platelet glutamate uptake.	Case:13 patients with parkinsonian syndromes;Control:28 not specified in abstracts;Case:38 sporadic Parkinson's disease cases										
135253		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Mamah, C. E.  et al. 2005	15732111				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Annals of neurology. 2005 Mar;57(3):439-43	Interaction of alpha-synuclein and tau genotypes in Parkinson's disease.		163890	23514	2	2005	These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of alpha-synuclein protein at low concentrations (dose threshold effect).	Control:557 paired controls;Case:557 Parkinson's disease cases										
135254		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Movement Disorders|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Maraganore, D. M.  et al. 2003	12784265				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Movement disorders. 2003 Jun;18(6):631-6	Complex interactions in Parkinson's disease: atwo-phased approach.		163890	23515	2	2003	Our findings are consistent with the hypothesis that PD is a multigenic disorder of the UPS.	Control:185:controls;Case:298 unrelated Parkinson's disease cases										
135249		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Berg, D.  et al. 2005	15895422				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Movement disorders. 2005 Sep;20(9):1191-4	Alpha-synuclein and Parkinson's disease:implications from the screening of more than 1,900 patients.		163890	19643	2	2005	These results demonstrate that mutations in the alpha-synuclein gene are rare and suggest that other factors contribute to alpha-synuclein aggregation in the majority of PD patients.	Cohort 1,921 Parkinson's disease patients 										
135250	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	4	4q21	SNCA	90865727	90978470		Matsubara, M.  et al. 2001	11173882				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Dementia and geriatric cognitive disorders. 2001 Mar-Apr;12(2):106-9	Genetic association between Alzheimer disease and the alpha-synuclein gene.		163890	23511	2	2001	The results showed that the alpha-synuclein gene is associated with sporadic AD in women, independent of ApoE epsilon4 status.	Case:183 Japanese AD patients;Control:210 unspecified controls										
135251		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Khan, N.  et al. 2001	11357958				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Annals of neurology. 2001 May;49(5):665-8	Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype.		163890	23512	2	2001	We failed to confirm this association in a much larger sample of histopathologically proven cases of Parkinson's disease and controls.	Case:305 Parkinson's disease patients;Control:330 age and sex matched to cases, 175 without any abnormal histopathology of brain tissued samples, and 155 clinical cases with no parkinsonism										
135246		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Susceptibility	4	4q21	SNCA	90865727	90978470		Pals, P.  et al. 2004	15455394			promoter	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Annals of neurology. 2004 Oct;56(4):591-5	alpha-Synuclein promoter confers susceptibility to Parkinson's disease.		163890	19639	2	2004	Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.	Control:controls;Case Belgium patients with Parkinson's disease										
135247		Parkinson's disease; dementia	NEUROLOGICAL	NEUR	Lewy Body Disease|Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Hofer, A.  et al. 2004	15622440				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			J Neural Transm. 2005 Sep;112(9):1249-54	The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies.		163890	19640	2	2004	Thus, this phenomenon appears not to be a major cause in the pathogenesis of sporadic DLB and young onset PD in this European population.	Cohort 54/103 dementia with Lewy body disease (n=54) and young onset Parkinson's disease (n=103) patients Central Europe 										
135248		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Mellick, G. D.  et al. 2005	15670652				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Australian	Australia	CDC GDPinfo	6622	Hs.271771			Neuroscience letters. 2005 Feb;375(2):112-6	Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease.		163890	19641	2	2005	Combined analysis including all previously published ancestral European Rep1 data yielded a highly significant association between the 0 allele and a reduced risk for PD (OR=0.79, 95% CI 0.70-0.89, p=0.0001). Further study must now proceed to examine in detail this interesting and biologically plausible genetic association.	Case:369 European Australian Parkinson's disease cases;Control:370:controls										
135243	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Ross, O. A.  et al. 2002	12352614			intron	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Ireland	CDC GDPinfo	6622	Hs.271771			Neuroreport. 2002 Sep;13(13):1621-5	A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence ofexpansion or allelic association with idiopathic Parkinson's disease in the Irish.		163890	19636	2	2002	These results would suggest that polymorphism of the alpha-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.	Control:92 healthy aged controls;Case:98 Parkinson's disease patients										
135244		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Tan, E. K.  et al. 2003	12493604			promoter	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Neuroscience letters. 2003 Jan;336(1):70-2	Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic sizevariability.		163890	19637	2	2003	No significant differences of the various genotypes between PD and controls were found. However there were differences of the mixed dinucleotide repeats sequences for similar homozygous genotypes. Variability of the microsatellite region and potential interacting factors that could affect alpha synuclein gene transcription should be further examined.	Case:102 Parkinson's disease patients;Control:102 age, gender, and race matched controls;Case:104 Parkinson's disease cases;Control:104 age, gender and race matched controls										
135245		dementia	PSYCH	PSY	Cystic Fibrosis|Lewy Body Disease|Parkinson Disease|Thrombophilia|Disease Progression|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Ohtake, H.  et al. 2004	15365127				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Washington|Japan	CDC GDPinfo	6622	Hs.271771			Neurology. 2004 Sep;63(5):805-11	Beta-synuclein gene alterations in dementia with Lewy bodies.		163890	19638	2	2004	 Mutations in the beta-synuclein gene may predispose to DLB.	Control 660 chromosomes from matched control subjects;Case:43 dementia with Lewy bodies index cases										
135240	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Farrer, M.  et al. 2001	11532993				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Human molecular genetics. 2001 Aug;10(17):1847-51	alpha-Synuclein gene haplotypes are associated with Parkinson's disease.		163890	19633	2	2001	Our analyses demonstrate that genetic variability in the alpha-synuclein gene is a risk factor for the development of PD. These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies.	Case not specified in abstract;Control not specified in abstract										
135241		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Essential Tremor|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Pastor, P.  et al. 2001	11748744				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Spain	CDC GDPinfo	6622	Hs.271771			Movement disorders. 2001 Nov;16(6):1115-9	Analysis of the coding and the 5' flanking regions of the alpha-synuclein gene in patients with Parkinson's disease.		163890	19634	2	2001	These results suggest that mutations in the alpha-synuclein gene are a very rare cause of familial PD and that the novel -164insA/C-116G polymorphism in the 5' flanking region does not confer susceptibility to develop PD.	Case:117 Parkinson's disease patients;Control:169 controls subjects not otherwise specified in:abstract										
135242	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Autere, J. M.  et al. 2002	12220378				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Finnish	Finland	CDC GDPinfo	6622	Hs.271771			European journal of neurology. 2002 Sep;9(5):479-83	Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson's disease in Finland.		163890	19635	2	2002	The results do not support a role for the alpha-synuclein gene or point mutations of the parkin gene in familial PD in our sample.	Case:45 patients with sporadic Parkinson's disease;Control:67:controls										
135237	Y	psychoses; methamphetamine dependence	PSYCH	PSY	Psychoses, Substance-Induced|Amphetamine-Related Disorders	4	4q21	SNCA	90865727	90978470		Kobayashi, H.  et al. 2004	15542733				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Annals of the New York Academy of Sciences. 2004 Oct;1025:325-34	Study of association between alpha-synuclein gene polymorphism and methamphetamine psychosis/dependence.		163890	13998	2	2004	These results suggest an association of the alpha-synuclein gene polymorphisms with MAP psychosis/dependence in our female subjects. Further analyses are necessary to clarify the gender difference, by using a larger sample size and/or different ethnic groups, as well as functional variations in the alpha-synuclein gene.	Control:controls;Case methamphetamine psychotic/dependent subjects										
135238	Y	Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Hadjigeorgiou, G. M.  et al. 2005	16250025				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Movement disorders. 2005	Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on ageat onset.		163890	13999	2	2005												
135239		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Nagar, S.  et al. 2001	11227130				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Indian	India	CDC GDPinfo	6622	Hs.271771			Acta neurologica Scandinavica. 2001 Feb;103(2):120-2	Mutations in the alpha-synuclein gene in Parkinson's disease among Indians.		163890	19632	2	2001	 The G88C and G209A mutations do not seem to be the predominant genetic determinant of PD among Indians.	Cohort 169 Indian Parkinson's disease patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases 										
135234	N	Parkinson's disease	NEUROLOGICAL	NEUR	Neuroblastoma|Parkinson Disease	4	4q21	SNCA	90865727	90978470		Holzmann, C.  et al. 2003	12541013			promoter	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			J Neural Transm. 2003 Jan;110(1):67-76	Polymorphisms of the alpha-synuclein promoter:expression analyses and association studies in Parkinson's disease.		163890	13995	2	2003	Although the -668C/-116G haplotype was more common in PD patients, this difference was not significant.	Control healthy German controls;Case:315 German Parkinson's disease patients										
135235		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Spadafora, P.  et al. 2003	14583385				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Italy	CDC GDPinfo	6622	Hs.271771			Neuroscience letters. 2003 Nov;351(2):75-8	NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in apopulation sample from southern Italy.		163890	13996	2	2003	We failed to demonstrate an association of any NACP-REP1 allele with PD.	Control:182 healthy control subjects;Case:189 Parkinson's disease patients southern Italy										
135236		Parkinson's disease	NEUROLOGICAL	NEUR		4	4q21	SNCA	90865727	90978470		Zhao, X.  et al. 2004	15300629				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDPinfo	6622	Hs.271771			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):339-41	[The alpha-synuclein gene microsatellite polymorphism and late-onset sporadic Parkinson's disease susceptibility]		163890	13997	2	2004	 alpha-synuclein microsatellite polymorphism might be a genetic susceptibility factor for late-onset sporadic PD.	Case:135 unrelated late-onset sporadic Parkinson's disease;Control:170 age-matched healthy controls										
135230			OTHER	OTH	Neuroblastoma	4	4q21	SNCA	90865727	90978470		Chiba-Falek O 2003	12923682				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			KGB	6622	Hs.271771			Human genetics. 2003 Oct;113(5):426-31	Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene.		163890	5580	1	2003												
135231		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Tan EK 2004	14718715			haplotype	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Singapore|China	KGB	6622	Hs.271771			Neurology. 2004 Jan;62(1):128-31	Alpha-synuclein haplotypes implicated in risk of Parkinson's disease.		163890	5581	1	2004												
135233		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Izumi, Y.  et al. 2001	11207390				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Japanese	Japan	CDC GDPinfo	6622	Hs.271771			Neuroscience letters. 2001 Mar;300(2):125-7	Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan		163890	13994	2	2001	In this study, we genotyped the same alpha-SYN/NACP polymorphism in Japanese sPD patients and healthy controls, but found that any aliele showed no significant difference between the two groups.	Case Japanese sporadic Parkinson's disease patients;Control healthy controls										
135227	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Ross OA et al. 2002	12352614			intron	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Irish	Ireland	KGB	6622	Hs.271771			Neuroreport. 2002 Sep;13(13):1621-5	A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish.		163890	5577	1	2002	These results would suggest that polymorphism of the alpha-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.	Control:92 healthy aged controls;Case:98 Parkinson's disease patients										
135228	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	4	4q21	SNCA	90865727	90978470		Matsubara M et al. 2001	11173882				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			KGB	6622	Hs.271771			Dementia and geriatric cognitive disorders. 2001 Mar-Apr;12(2):106-9	Genetic association between Alzheimer disease and the alpha-synuclein gene.		163890	5578	1	2001	The results showed that the alpha-synuclein gene is associated with sporadic AD in women, independent of ApoE epsilon4 status.	Case:183 Japanese AD patients;Control:210 unspecified controls										
135229	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Farrer M et al. 2001	11532993				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			KGB	6622	Hs.271771			Human molecular genetics. 2001 Aug;10(17):1847-51	alpha-Synuclein gene haplotypes are associated with Parkinson's disease.		163890	5579	1	2001	Our analyses demonstrate that genetic variability in the alpha-synuclein gene is a risk factor for the development of PD. These genetic findings are analogous to the tau haplotype over-represented in progressive supranuclear palsy and further extend the similarity in the etiologies and pathogeneses of the synucleinopathies and tauopathies.	Case not specified in abstract;Control not specified in abstract										
135224	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Bobb, A. J.  et al. 2005	15717291				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDPinfo	6616	Hs.167317			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		600322	28260	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
135225	Y	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.21	SNAP29	19543291	19574109	P = 0.009	Saito T 2001	11317222	A-->G transition 849 nucleotides upstream of the transcription start site		5`promoter	Synaptosomal-associated protein, 29kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004782.2			KGB	9342	Hs.108002			Molecular psychiatry. 2001 Mar;6(2):193-201	Polymorphism in SNAP29 gene promoter region associated with schizophrenia		604202	6618	1	2001	These data suggest that a mutation in the SNAP29 gene promoter region, or a mutation in linkage disequilibrium with the promoter SNP, may be involved in the pathogenesis of chromosome 22-linked SZ.	Case:124 patients with bipolar disorder;Control:95 Caucasian subjects who were students, hospital, medical school, and clinic staff, anonymous DNA samples from liver biopsies, anonymous blood donors;Case:97 patients with schizophrenia										
135226	Y	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.21	SNAP29	19543291	19574109		Saito, T.  et al. 2001	11317222			promoter	Synaptosomal-associated protein, 29kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004782.2			CDC GDPinfo	9342	Hs.108002			Molecular psychiatry. 2001 Mar;6(2):193-201	Polymorphism in SNAP29 gene promoter region associated with schizophrenia		604202	13993	2	2001	These data suggest that a mutation in the SNAP29 gene promoter region, or a mutation in linkage disequilibrium with the promoter SNP, may be involved in the pathogenesis of chromosome 22-linked SZ.	Case:124 patients with bipolar disorder;Control:95 Caucasian subjects who were students, hospital, medical school, and clinic staff, anonymous DNA samples from liver biopsies, anonymous blood donors;Case:97 patients with schizophrenia										
135221		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Mill, J.  et al. 2004	15007392				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDPinfo	6616	Hs.167317			Molecular psychiatry. 2004 Aug;9(8):801-10	Haplotype analysis of SNAP-25 suggests a role in the aetiology of ADHD.		600322	19629	2	2004	Overall our data provide some evidence for a role of this gene in ADHD, although the precise causal functional variant is yet to be ascertained.	Cohort 188 attention deficit hyperactivity disorder probands 										
135222	Y	schizophrenia; schizoaffective disorder; weight gain	PSYCH	PSY	Weight Gain|Psychotic Disorders|Schizophrenia	20	20p12-p11.2	SNAP25	10147476	10236065		Muller, D. J.  et al. 2005	15823421				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDPinfo	6616	Hs.167317			Neuroscience letters. 2005 May;379(2):81-9	The SNAP-25 gene may be associated with clinical response and weight gain in antipsychotic treatment of schizophrenia.		600322	19630	2	2005	These findings suggest that SNAP-25 gene variants affect clinical response in patients with prior poor response to antipsychotics. Weight changes do not seem to be associated with polymorphism of the SNAP-25 gene, however, replication in independent samples is warranted.	Cohort 59 patients with prior suboptimal response to antipsychotic treatment and diagnosed with schizophrenia or schizoaffective disorder 	clozapine haloperidol olanzapine risperidone									
135223		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Feng, Y.  et al. 2005	16088329				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDPinfo	6616	Hs.167317			Molecular psychiatry. 2005 Nov;10(11):998-1005, 973	The SNAP25 gene as a susceptibility gene contributing to attention-deficit hyperactivity disorder.		600322	19631	2	2005												
135217		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Mill J et al. 2002	11920846				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			KGB	6616	Hs.167317			American journal of medical genetics. 2002 Apr;114(3):269-71	Association study of a SNAP-25 microsatellite and attention deficit hyperactivity disorder.		600322	5573	1	2002												
135218		ADHD	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Brophy K et al. 2002	12232787				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2	Irish	Ireland	KGB	6616	Hs.167317			Molecular psychiatry. 2002 ;7(8):913-7	Synaptosomal-associated protein 25 (SNAP-25) and attention deficit hyperactivity disorder (ADHD): evidence of linkage and association in the Irish population.		600322	5574	1	2002												
135219	Y	ADHD	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065	0.027	Molecular Psychiatry (2003) 8, 309-315	12660803	Haplotype defined by two SNPs spaced 3 bases apart in the 3' UTR of SNAP-25	Associaiton is strongest when allele is paternally transmitted	3'untranslated	Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2	Caucasion		Barry Merriman	6616	Hs.167317			Molecular psychiatry. 2003 Mar;8(3):309-15	Biased paternal transmission of SNAP-25 risk alleles in attention-deficit hyperactivity disorder.		600322	5575	1	2003		Case:207										
135220	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Barr, et al, Mol. Psych. (2000) 5, 405-409.	10889551				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			Barry Merriman	6616	Hs.167317			Molecular psychiatry. 2000 Jul;5(4):405-9	Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder		600322	5576	1	2000												
135213	N	acute GVHD	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	Y	Yq11	HY	20326688	20366212	n	Kogler G et al. 2002	12438965				Smcy homolog, Y-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648643			KGB	8284	Hs.80358			Transplantation. 2002 Oct;74(8):1167-75	Recipient cytokine genotypes for TNF-alpha and IL-10 and the minor histocompatibility antigens HY and CD31 codon 125 are not associated with occurrence or severity of acute GVHD in unrelated cord blood transplantation: a retrospective analysis.			6565	1	2002	 In contrast to HLA-identical sibling bone marrow transplantation, in mismatched unrelated CBT, neither the cytokine genotypes TNFd3/d3 alone or in combination with IL-10(-1064) alleles nor the minor histocompatibility antigens HY, HA-1, and CD31 exon 125 were associated with aGvHD grades II to IV. Further determination of the cytokine gene polymorphism genotypes in CBTs compared with bone marrow transplants may identify those polymorphisms that could be potential predictive markers for the occurrence of aGvHD.											
135214	Y	increased development of adult T-cell leukemia/lymphoma	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	Y	Yq11	HY	20326688	20366212		Tsukasaki K et al. 2001	11325850				Smcy homolog, Y-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648643			KGB	8284	Hs.80358			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.			6566	1	2001												
135216	N	schizophrenia	PSYCH	PSY	Schizophrenia	20	20p12-p11.2	SNAP25	10147476	10236065	n	Tachikawa H 2001	11287790				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			KGB	6616	Hs.167317			Neuropsychobiology. 2001 ;43(3):131-3			600322	5572	1	2001												
135210		bone density	METABOLIC	MET	Osteoporosis	18	18q21.1	SMAD4	46810610	46860145		Mizuguchi, T.  et al. 2004	14727154				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129		Japan	CDC GDPinfo	4089	Hs.75862			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		600993	27840	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
135211		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		18	18q21.1	SMAD7	44700220	44731079		Watanabe, Y.  et al. 2002	12202987				SMAD, mothers against DPP homolog 7 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005904.2			CDC GDPinfo	4092	Hs.465087			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		602932	26589	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
135212	Y	rhabdoid tumors	CANCER	CAN	Rhabdoid Tumor|Chromosome Aberrations|Translocation, Genetic|	22	22q11	SMARCB1	22459149	22506705		Rousseau-Merck MF et al. 1999	10397258				SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003073.3			KGB	6598	Hs.534350			Cancer research. 1999 Jul;59(13):3152-6	hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors.		601607	7986	1	1999												
135207	Y	polyposis, juvenile	OTHER	OTH	Intestinal Polyps|Genetic Predisposition to Disease	18	18q21.1	SMAD4	46810610	46860145		Sayed, M. G.  et al. 2002	12417513				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129			CDC GDPinfo	4089	Hs.75862			Annals of surgical oncology. 2002 Nov;9(9):901-6	Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.		600993	23508	2	2002	 Patients with germline SMAD4 or BMPR1A mutations have a more prominent JP phenotype than those without, and SMAD4 mutations predispose to UGI polyposis.	Cohort 54 juvenile polyposis probands 										
135208		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		18	18q21.1	SMAD4	46810610	46860145		Watanabe, Y.  et al. 2002	12202987				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129			CDC GDPinfo	4089	Hs.75862			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		600993	25576	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
135209		juvenile polyposis	OTHER	OTH	Adenomatous Polyposis Coli|Colonic Neoplasms	18	18q21.1	SMAD4	46810610	46860145		Howe, J. R.  et al. 2004	15235019				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129			CDC GDPinfo	4089	Hs.75862			Journal of medical genetics. 2004 Jul;41(7):484-91	The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.		600993	26588	2	2004	In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases.	Cohort 77 juvenile polyposis patients 										
135204	Y	pravastatin kinetics	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Schizophrenia	5	5q35	SLIT3	168025857	168660554		Shi, Y.  et al. 2004	15231749				Slit homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003062.1	Chinese		CDC GDPinfo	6586	Hs.604116			Genome research. 2004 Jul;14(7):1345-9	Genetic structure adds power to detect schizophrenia susceptibility at SLIT3 in the Chinese Han population.		603745	19620	2	2004	Our results imply that identifying the hidden genetic substructure adds power when detecting association, and suggest that SLIT3 or a nearby gene is associated with schizophrenia.	Cohort 768 Han Chinese samples, including 384 Southern Han and 384 Northern Han Cohort 96 Chinese minorities including 48 Yao and 48 BouYei subjects 										
135205	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Inversion, Chromosome|Attention Deficit Disorder with Hyperactivity	13	13q31.1	SLITRK1	83349343	83354529		Abelson, J. F.  et al. 2005	16224024				SLIT and NTRK-like family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052910.1			CDC GDPinfo	114798	Hs.415478			Science. 2005 Oct;310(5746):317-20	Sequence variants in SLITRK1 are associated with Tourette's syndrome.		609678	19621	2	2005												
135206	Y	Juvenile polyposis syndrome; polyposis, gastric	OTHER	OTH	Stomach Neoplasms|Polyps	18	18q21.1	SMAD4	46810610	46860145		Friedl, W.  et al. 2002	12136244				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129			CDC GDPinfo	4089	Hs.75862			Human genetics. 2002 Jul;111(1):108-11	Juvenile polyposis: massive gastric polyposis ismore common in MADH4 mutation carriers than in BMPR1A mutation carriers.		600993	23507	2	2002	A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This is the first genotype-phenotype correlation observed in JPS.	Cohort 29 patients with the clinical diagnosis of JPS 										
135201		pravastatin kinetics; hyperbilirubinemia	PHARMACOGENOMIC	PHARM		11	11q13	SLCO2B1	74539810	74594947		Nozawa, T.  et al. 2002	12130747				Solute carrier organic anion transporter family, member 2B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007256.2			CDC GDPinfo	11309	Hs.7884			The Journal of pharmacology and experimental therapeutics. 2002 Aug;302(2):804-13	Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9):allele frequencies in the Japanese population and functional analysis.		604988	23505	2	2002	Since the frequency of the OATP-B*3 allele was high (30.9%) in our subjects, the SNP of S486F may affect the physiological function and/or pharmacological effects of OATP-B substrates in vivo.	Cohort 267 healthy Japanese subjects 										
135202		pravastatin kinetics	PHARMACOGENOMIC	PHARM		11	11q13	SLCO2B1	74539810	74594947		Niemi, M.  et al. 2004	15226675				Solute carrier organic anion transporter family, member 2B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007256.2			CDC GDPinfo	11309	Hs.7884			Pharmacogenetics. 2004 Jul;14(7):429-40	High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1).		604988	26587	2	2004	No significant associations were found between OATP-B, MRP2 or MDR1 polymorphisms and the pharmacokinetics of pravastatin. These results suggest that haplotypes are more informative in predicting the OATP-C phenotype than single SNPs.	Cohort 41 healthy Caucasian volunteers who had previously participated in pharmacokinetic studies with pravastatin 	pravastatin									
135203		glioma	CANCER	CAN	Glioma|Central Nervous System Neoplasms	4	4p15.2	SLIT2	19864332	20229886		Dallol A 2003	12881718				Slit homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004787.1			KGB	9353	Hs.643432			Oncogene. 2003 Jul;22(29):4611-6	Frequent epigenetic inactivation of the SLIT2 gene in gliomas.		603746	6619	1	2003												
135198		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p	SLCO1B1	21175402	21283997		Kivisto, K. T.  et al. 2005	15952872				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2		Finland	CDC GDPinfo	10599	Hs.449738			American journal of pharmacogenomics. 2005 ;5(3):191-5	CYP3A5 genotype is associated with diagnosis of hypertension in elderly patients: data from theDEBATE Study.		604843	25575	2	2005	 This work lends support to the theory that the polymorphic CYP3A5 enzyme may be involved in regulation of blood pressure. The possible role of CYP3A5 as a genetic contributor to hypertension susceptibility warrants further study.											
135199		repaglinide pharmacokinetics	OTHER	OTH		12	12p	SLCO1B1	21175402	21283997		Niemi, M.  et al. 2005	15961978				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Clinical pharmacology and therapeutics. 2005 Jun;77(6):468-78	Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics.		604843	26586	2	2005	 Genetic polymorphism in SLCO1B1 is a major determinant of interindividual variability in the pharmacokinetics of repaglinide. The effect of SLCO1B1 polymorphism on the pharmacokinetics of repaglinide may be clinically important.											
135200		hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	3	3q21	SLCO2A1	135134229	135231418		Huang, C. S.  et al. 2005	15864125				Solute carrier organic anion transporter family, member 2A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005630.1			CDC GDPinfo	6578	Hs.518270			Pharmacogenetics and genomics. 2005 Jan;15(1):43-50	Genetic factors related to unconjugated hyperbilirubinemia amongst adults.		601460	20104	2	2005	Amongst hyperbilirubinemic adults, bilirubin values tended to parallel variation status of their haplotypes. Adults featuring certain haplotypes in UGT1A1, OATP2 and G6PD genes face a high risk of developing unconjugated hyperbilirubinemia.	Case:227 adults with normal routine haematology and liver function (apart from bilirubin testing for which they revealed bilirubin > or = 25.7 micromol/l and unconjugated bilirubin/total bilirubin > or = 80%);Control:235 sex- and age-matched controls										
135196		pravastatin kinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Nishizato, Y.  et al. 2003	12811365				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Clinical pharmacology and therapeutics. 2003 Jun;73(6):554-65	Polymorphisms of OATP-C (SLC21A6) and OAT3 (SLC22A8) genes: consequences for pravastatinpharmacokinetics.		604843	23504	2	2003	 Certain commonly occurring single-nucleotide polymorphisms in OATP-C, such as T521C (Val174Ala), are likely to be associated with altered pharmacokinetics of pravastatin. Large clinical studies are needed to confirm these observations.	Cohort 23 healthy volunteers 	pravastatin									
135197		pravastatin kinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Niemi, M.  et al. 2004	15226675				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Pharmacogenetics. 2004 Jul;14(7):429-40	High plasma pravastatin concentrations are associated with single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide-C (OATP-C, SLCO1B1).		604843	25574	2	2004	No significant associations were found between OATP-B, MRP2 or MDR1 polymorphisms and the pharmacokinetics of pravastatin. These results suggest that haplotypes are more informative in predicting the OATP-C phenotype than single SNPs.	Cohort 41 healthy Caucasian volunteers who had previously participated in pharmacokinetic studies with pravastatin 	pravastatin									
135192		pravastatin kinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Mwinyi, J.  et al. 2004	15116054				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Clinical pharmacology and therapeutics. 2004 May;75(5):415-21	Evidence for inverse effects of OATP-C (SLC21A6) 5 and 1b haplotypes on pravastatin kinetics.		604843	19617	2	2004	 There was a significant effect of tested OATP-C variant haplotypes on pravastatin disposition. Whereas *5 expression delayed the hepatocellular uptake of pravastatin, *1b expression seemed to accelerate OATP-C-dependent uptake of the drug.	Cohort 30 healthy white male subjects 	pravastatin									
135193	Y	cholesterol; lathosterol	METABOLIC	MET		12	12p	SLCO1B1	21175402	21283997			15864131				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Pharmacogenetics and genomics. 2005 May;15(5):303-9	Acute effects of pravastatin on cholesterol synthesis are associated with SLCO1B1 (encoding OATP1B1) haplotype *17		604843	19618	2	2005	 These results suggest that uptake of pravastatin into hepatocytes is impaired in carriers of the SLCO1B1 haplotype *17, resulting in higher plasma pravastatin concentrations but lower concentrations of pravastatin in hepatocytes and thereby in a smaller inhibitory effect on cholesterol synthesis. The cholesterol-lowering response to pravastatin may be impaired in carriers of the *17 haplotype.		pravastatin									
135194		rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Lee, E.  et al. 2005	16198652				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Clinical pharmacology and therapeutics. 2005 Oct;78(4):330-41	Rosuvastatin pharmacokinetics and pharmacogenetics in white and Asian subjects residing in the same environment.		604843	19619	2	2005	 Plasma exposure to rosuvastatin and its metabolites was significantly higher in Chinese, Malay, and Asian-Indian subjects compared with white subjects living in the same environment.											
135189		cholesterol	METABOLIC	MET		12	12p	SLCO1B1	21175402	21283997		Tachibana-Iimori, R.  et al. 2004	15548849				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Drug metabolism and pharmacokinetics. 2004 Oct;19(5):375-80	Effect of genetic polymorphism of OATP-C (SLCO1B1) on lipid-lowering response to HMG-CoA reductase inhibitors.		604843	13988	2	2004	These data suggest that the 521T/C polymorphism of the OATP-C gene modulates the lipid-lowering efficacy of HMG-CoA reductase inhibitors.	Cohort 66 patients who underwent treatment of hyperlipidemia with HMG-CoA reductase inhibitors in a municipal hospital in a community-based cohort Ehime perfecture, Japan 	HMG-CoA reductase inhibitors									
135190		pitavastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Chung, J. Y.  et al. 2005	16198653				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Clinical pharmacology and therapeutics. 2005 Oct;78(4):342-50	Effect of OATP1B1 (SLCO1B1) variant alleles on the pharmacokinetics of pitavastatin in healthy volunteers.		604843	13989	2	2005	 OATP 1 B 1 variant haplotypes were found to have a significant effect on the pharmacokinetics of pitavastatin. These results suggest that the *15 allele is associated with decreased pitavastatin uptake from blood into hepatocytes and that OATP 1 B 1 genetic polymorphisms have no effect on the pharmacokinetics of pitavastatin lactone.											
135191		pravastatin kinetics; hyperbilirubinemia	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Nozawa, T.  et al. 2002	12130747				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			The Journal of pharmacology and experimental therapeutics. 2002 Aug;302(2):804-13	Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9):allele frequencies in the Japanese population and functional analysis.		604843	13990	2	2002	Since the frequency of the OATP-B*3 allele was high (30.9%) in our subjects, the SNP of S486F may affect the physiological function and/or pharmacological effects of OATP-B substrates in vivo.	Cohort 267 healthy Japanese subjects 										
135186		hypertension	CARDIOVASCULAR	CARD		12	12p12	SLCO1A2	21311650	21439638		Lee, W.  et al. 2005	15632119				Solute carrier organic anion transporter family, member 1A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134431.1			CDC GDPinfo	6579	Hs.46440			The Journal of biological chemistry. 2005 Mar;280(10):9610-7	Polymorphisms in human organic anion-transporting polypeptide 1A2 (OATP1A2): implications for altereddrug disposition and central nervous system drug entry.		602883	13986	2	2005	Taken together, these data suggest that SLCO1A2 polymorphisms may be an important, yet unrecognized contributor to inter-individual variability in drug disposition and central nervous system entry of substrate drugs.	Cohort 95/95/95/95 African- (n=95), Chinese- (n=95), European- (n=95), and Hispanic- (n=95)Americans 										
135187	Y	altered OATP-C transport activity	OTHER	OTH		12	12p	SLCO1B1	21175402	21283997		Tirona RG et al. 2001	11477075				solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			KGB	10599	Hs.449738			The Journal of biological chemistry. 2001 Sep;276(38):35669-75	Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans.			6670	1	2001												
135188		repaglinide pharmacokinetics	OTHER	OTH		12	12p	SLCO1B1	21175402	21283997		Tirona, R. G.  et al. 2001	11477075				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	European		CDC GDPinfo	10599	Hs.449738			The Journal of biological chemistry. 2001 Sep;276(38):35669-75	Polymorphisms in OATP-C: Identification of MultipleAllelic Variants Associated with Altered Transport Activity Among European- and African-Americans		604843	13987	2	2001	we demonstrate the presence of multiple functionally relevant single-nucleotide polymorphisms (SNPs) in OATP-C in a population of African- and European- Americans. Given the relatively high genotypic frequency of the T521C (14%) transition in European-Americans and the G1463C (9%) transversion in African-Americans, SNPs in OATP-C may represent a heretofore unrecognized factor influencing drug disposition.	Cohort a population of African- and European- Americans. 										
135183		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1p36.1-p35	SLC9A1	27297893	27353988		Zhao, Y.  et al. 2001	12905871				Solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003047.2	Chinese		CDC GDPinfo	6548	Hs.469116			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2001 Oct;23(5):499-501	[Relationship between alpha-ENaC gene Thr663Ala polymorphism and ischemic stroke]		107310	13985	2	2001	 Thr 663Ala polymorphism of alpha-ENaC gene may be a genetic risk of ischemic stroke in Chinese population.	Control:280 controls without stroke;Case:294 Chinese patients with cerebral infarction										
135184		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5p15.3	SLC9A3	526424	577447		Zhu, H.  et al. 2004	15201541				Solute carrier family 9 (sodium/hydrogen exchanger), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004174.1			CDC GDPinfo	6550	Hs.535801			Journal of hypertension. 2004 Jul;22(7):1269-75	Molecular variants of the sodium/hydrogen exchanger type 3 gene and essential hypertension.		182307	19616	2	2004	 These results suggest a high degree of structural conservation of the NHE3 gene; however, the lack of association between these polymorphisms and blood pressure status does not necessarily eliminate the participation of this important sodium/hydrogen exchanger in the pathophysiology of essential hypertension, as we cannot exclude the existence of functionally important genetic variants in other sequences within the NEH3 gene.	Case essential hypertension subjects of Caucasian, of African or Afro-Caribbean origin;Control subjects of Caucasian, of African or Afro-Caribbean origin without hypertension										
135185	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	17	17q25.1	SLC9A3R1	70256361	70277089		Helms C 2003	14608357			other	Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004252.1				9368	Hs.396783			Nature genetics. 2003 Dec;35(4):349-56	A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.		604990	6626	1	2003												
135180	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p23-p22	SLC8A1	40192789	40593079		Kokubo, Y.  et al. 2004	15785003				Solute carrier family 8 (sodium/calcium exchanger), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021097.1	Japanese		CDC GDPinfo	6546	Hs.468274			Hypertension research. 2004 Oct;27(10):697-702	Association of genetic polymorphisms of sodium-calcium exchanger 1 gene, NCX1, with hypertension in a Japanese general population.		182305	13984	2	2004	Thus, our study suggests that NCX1 is one of the genes related to susceptibility to essential hypertension in the Japanese general population.	Cohort 1,865 individuals, of whom 787 were hypertensive and 1,072 were normotensive 										
135181		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	2	2p23-p22	SLC8A1	40192789	40593079		Matayoshi, T.  et al. 2004	15824464				Solute carrier family 8 (sodium/calcium exchanger), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021097.1			CDC GDPinfo	6546	Hs.468274			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		182305	28454	2	2004			thiazide diuretics									
135182	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p36.1-p35	NHE1	27297893	27353990		Dubouix A et al. 2000	10860861			promoter	solute carrier family 9 (sodium/hydrogen exchanger), member 1 (antiporter, Na+/H+, amiloride sensitive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003047			KGB	6548	Hs.469116			Molecular cell biology research communications. 2000 Mar;3(3):141-4	Polymorphism of the 5' untranslated region of NHE1 gene associated with type-I diabetes.		107310	5543	1	2000												
135177		cystinuria	METABOLIC	MET	Cystinuria|Genetic Predisposition to Disease	19	19q13.1	SLC7A9	38013261	38052512		Harnevik, L.  et al. 2003	12820697				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3	Swedish	Sweden	CDC GDPinfo	11136	Hs.408567			Genetic testing. 2003 ;7(1):13-20	Mutation analysis of SLC7A9 in cystinuria patients in Sweden.		604144	23500	2	2003	We conclude that  SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria. The absence of SLC3A1 and SLC7A9 mutations in a substantial proportion of the patients implies that mutations in parts of the genes that were not analyzed may be present, as well as large deletions that escape detection by the methods used. However, our results raise the question of whether other, as yet unknown genes, may also be involved in cystinuria.	Cohort 16 patients of 53 previously reported showing SLC7A9 mutations and/or either lacked or showed heterozygosity for SLC3A1 mutations 										
135178		cystinuria	METABOLIC	MET	Cystinuria	19	19q13.1	SLC7A9	38013261	38052512		Schmidt, C.  et al. 2004	14991253				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3		Germany	CDC GDPinfo	11136	Hs.408567			Urological research. 2004 May;32(2):75-8	The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria		604144	23501	2	2004	Generally, we could show that a stepwise analysis directed to the most common mutations in the two cystinuria genes is sufficient to detect variants in more than 75% of patients of European origin. The test consists of nine different PCR-based approaches and therefore represents a low-cost, reliable and timesaving diagnostic tool.	Cohort 22 unclassified cystinuric patients 										
135179		cystinuria	METABOLIC	MET	Cystinuria	19	19q13.1	SLC7A9	38013261	38052512		Font-Llitjos, M.  et al. 2005	15635077				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3			CDC GDPinfo	11136	Hs.408567			Journal of medical genetics. 2005 Jan;42(1):58-68	New insights into cystinuria: 40 new mutations,genotype-phenotype correlation, and digenic inheritance causing partial phenotype.		604144	23502	2	2005	 Digenic inheritance is an exception (two of 164 families), with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria. Further mutational analysis could focus on one of the two genes (SLC3A1 preferentially for type I and SLC7A9 for type non-I probands), while for mixed probands analysis of both genes might be required, with priority given to SLC7A9.	Cohort 164 probands from the International Cystinuria Consortium 										
135174		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Dick, D. M.  et al. 2003	12766633				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		182138	28428	2	2003	Review article											
135175	Y	cystinuria	METABOLIC	MET	Cystinuria	19	19q13.1	SLC7A9	38013261	38052512		Schmidt, C.  et al. 2003	12779097				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3		Germany	CDC GDPinfo	11136	Hs.408567			Clinical nephrology. 2003 May;59(5):353-9	Genetic variations of the SLC7A9 gene: alleledistribution of 13 polymorphic sites in German cystinuria patients and controls.		604144	19612	2	2003	In summary, our results show that cystinuria is a complex disease which is not only caused by mutations in SLC7A9 and SLC3A1, but also influenced by other modifying factors such as variants in SLC7A9.	Control:58 healthy German controls;Case:59 patients with cystinuria from different ethnic:backgrounds:Germany										
135176		cystinuria	METABOLIC	MET	Cystinuria	19	19q13.1	SLC7A9	38013261	38052512		Strologo, L. D.  et al. 2002	12239244				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3			CDC GDPinfo	11136	Hs.408567			Journal of the American Society of Nephrology. 2002 Oct;13(10):2547-53	Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a newclassification.		604144	23499	2	2002	Clinical data show that cystinuria is more severe in males than in females. The two types of cystinuria (A and B) had a similar outcome in this retrospective study, but the effect of the treatment could not be analyzed. Stone events do not correlate with amino acid urinary excretion. Renal function was clearly impaired in 17% of the patients.	Case:224 patients affected by cystinuria;Control:83 healthy controls										
135171		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Batra, V.  et al. 2003	12740294				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		182138	27996	2	2003	Review article											
135172		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Lerman, C.  et al. 2003	12627466				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		182138	28317	2	2003	Review article											
135173		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Liu, Y.  et al. 2005	15654505				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese	Japan	CDC GDPinfo	6532	Hs.591192			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		182138	28427	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
135168		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Konishi, T.  et al. 2004	15318112				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Mexican	Los Angeles	CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2004 Aug;28(8):1145-52	ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles.		182138	27838	2	2004	 Together, the data reveal unique genetic patterns in Mexican Americans that may be in part responsible for the heightened risk for alcoholism and alcohol-associated health problems in this population.	Case:200 alcoholic Mexican Americans;Control:251 nonalcoholic Mexican Americans										
135169		longevity	AGING	AGE		17	17q11.1-q12	SLC6A4	25549031	25586831		Stessman, J.  et al. 2005	15621215				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		182138	27839	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
135170		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Foley, P. F.  et al. 2004	15542698				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDPinfo	6532	Hs.591192			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		182138	27995	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
135165	N	self-harm behavior	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Pooley, E. C.  et al. 2003	12877392				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182138	27221	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
135166		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831			16389711				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Encephale. 2005 Jul-Aug;31(4 Pt 1):437-47	[Meta-analysis of candidate genes in attention-deficit hyperactivity disorder]		182138	27222	2	2005												
135167		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Lerer, B.  et al. 2002	12366879				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		182138	27620	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
135162		attention deficit hyperactivity disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Bobb, A. J.  et al. 2004	15457500				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2004 Sep;{}:	Molecular genetic studies of ADHD: 1991 to 2004.		182138	26585	2	2004	All candidate gene approaches continue to face the problem of relatively low power, given modest odds ratios for even the best replicated genes.	Control:controls;Case attention deficit hyperactivity disorder cases										
135163		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Gorwood, P.  et al. 2004	15581469				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Med Sci (Paris). 2004 Dec;20(12):1132-8	[Alcohol dependence and polymorphisms of serotonin-related genes]		182138	27219	2	2004	Genes involved in the transmission, reuptake and metabolism of serotonin constitute a set of candidate genes that could be involved in core aspects of alcoholism, such as the tendency to prefer immediate reward, despite negative consequences.											
135164		depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Peters, E. J.  et al. 2004	15052272				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		182138	27220	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
135159		depression	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Eley, T. C.  et al. 2004	15241435				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2004 Oct;9(10):908-15	Gene-environment interaction analysis of serotonin system markers with adolescent depression.		182138	26582	2	2004	HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.	Cohort 377 adolescents selected from 1990 adolescents aged 10-20 years 										
135160		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Munafo, M.  et al. 2004	15370155				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Nicotine & tobacco research. 2004 Aug;6(4):583-97	The genetic basis for smoking behavior: asystematic review and meta-analysis.		182138	26583	2	2004	The evidence for a contribution of specific genes to smoking behavior remains modest. Implications for the design of future studies are discussed, such as the need for the development of more specific phenotypes to increase the genetic signal in candidate gene studies.	Cohort individuals from 28 studies on smoking behavior 										
135161		alcohol abuse	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Hopfer, C. J.  et al. 2005	15845322				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Drug and alcohol dependence. 2005 May;78(2):187-93	Genetic influences on quantity of alcohol consumed by adolescents and young adults.		182138	26584	2	2005	 Genetic influence on drinking behavior was common in adolescents longitudinally assessed 1 year apart, but was less correlated between these adolescents and their assessment as young adults at a subsequent time point. Polymorphisms in genes of the dopaminergic system appear to influence variation in drinking behavior.	Cohort 4,432 youth assessed during adolescence (mean age of 16) and then 1 and 6 years later 										
135156		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Hong, C. J.  et al. 2005	16302021				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2006 Jan-Feb;6(1):27-33	Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder.		182138	26579	2	2005			fluoxetine									
135157		anorexia nervosa; bulimia	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Tozzi, F.  et al. 2002	12473966				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology bulletin. 2002 ;36(3):60-90	Candidate gene studies in eating disorders.		182138	26580	2	2002	Review article											
135158		shyness	UNKNOWN	UNK	Genetic Predisposition to Disease|Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Arbelle, S.  et al. 2003	12668354				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2003 Apr;160(4):671-6	Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism.		182138	26581	2	2003	 This study provisionally identifies a common genetic polymorphism, 5-HTTLPR, that modestly (effect size=7%) contributed to greater shyness scores in a nonclinical group of second-grade students. These first findings may be relevant to previous reports that have shown an association between the 5-HTTLPR long form and obsessive-compulsive disorder and autism.	Cohort 98 second-grade children 										
135153		personality disorders	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Munafo, M. R.  et al. 2003	12808427				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2003 May;8(5):471-84	Genetic polymorphisms and personality in healthy adults: a systematic review and meta-analysis.		182138	26576	2	2003	Implications for the design of future association studies of human personality are discussed, including the likely sample sizes that will be required to achieve sufficient power and the potential role of moderating variables such as sex.	Cohort individuals from 46 studies contributed to the analysis 										
135154		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	17	17q11.1-q12	SLC6A4	25549031	25586831		Li, T.  et al. 2002	11920858				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese	China	CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		182138	26577	2	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
135155		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831			16281377				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(10):35-41	[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives]		182138	26578	2	2005												
135150		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2004	15475734				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Pharmacogenetics. 2004 Sep;14(9):607-13	Pharmacogenetics of selective serotonin reuptake inhibitor response: a 6-month follow-up.		182138	25571	2	2004	 Some subjects showing remission after acute treatment relapsed within 6 months, despite undertaking a maintenance treatment; the causes could be heterogeneous, but CLOCK gene variants may influence the outcome.	Cohort 185 inpatients affected by recurrent major depression consecutively admitted to the Psychiatric Inpatient Unit of San Raffaele Hospital 1998n - 2003 	antidepressants									
135151	Y	gastrointestinal disorders	UNKNOWN	UNK	Irritable Bowel Syndrome|Constipation	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, H. J.  et al. 2004	15138209				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Gut. 2004 Jun;53(6):829-37	Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders.		182138	25572	2	2004	 Functionally distinct alpha(2A) and alpha(2C) adrenoceptor and serotonin transporter polymorphisms are associated with constipation and high somatic symptoms in patients with lower functional gastrointestinal disorders, although the strength of the genetic contribution to the phenotype is unclear.	Control:controls;Case:90/128/38 patients with lower functional gastrointestinal disorders (with IBS constipation (n=90), IBS diarrhoea (n=128), IBS alternating bowel function (n=38) and chronic abdominal pain (n=20)										
135152		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Choi, I. G.  et al. 2005	16125912				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European neuropsychopharmacology. 2006 Feb;16(2):123-8	Genetic polymorphisms of alcohol and aldehyde dehydrogenase, dopamine and serotonin transporters in familial and non-familial alcoholism.		182138	25573	2	2005			family history									
135147		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Maron, E.  et al. 2005	15670397				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2005 Jun;8(2):261-6	Associations between serotonin-related gene polymorphisms and panic disorder.		182138	25568	2	2005	These findings indicate that genetic variants conceivably related to lower 5-HT neurotransmission may be involved in the development of PD.	Case:158 patients with panic disorder;Control:215 healthy controls										
135148		schizophrenia; psychoses; aggressive behavior; verbal fluency	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831			15341275				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genetika. 2004 Jun;40(6):841-5	[Polymorphism of the serotonin system genes in some Finno-Ugric populations]		182138	25569	2	2004	These results obtained indicate the prevalence of the site gain alleles of the EcoRV and Fnu4HI RFLP loci at the MAO-A gene in Komis and the of the corresponding site loss alleles in Khants.	Cohort Khant and Komi ehtnic groups 										
135149		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.1-q12	SLC6A4	25549031	25586831			16362633				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Colombian		CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2005	Association study of polymorphisms in LRP1, tau and 5-HTT genes and Alzheimer's disease in a sample of Colombian patients		182138	25570	2	2005												
135144		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Nishimura, A. L.  et al. 2005	16186632				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Brazil	CDC GDPinfo	6532	Hs.591192			Journal of molecular neuroscience. 2005 ;27(2):213-7	Monoamine oxidase a polymorphism in brazilian patients: risk factor for late-onset Alzheimer'sdisease?		182138	25565	2	2005												
135145		anxiety disorder	PSYCH	PSY	Anxiety Disorders|Phobic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Samochowiec, J.  et al. 2004	15450911				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2004 Aug;128(1):21-6	Association studies of MAO-A, COMT, and 5-HTT genes polymorphisms in patients with anxiety disorders of the phobic spectrum		182138	25566	2	2004	The results support a possible role of the MAO-A gene in anxiety disorders.	Case:101 patients with phobic disorders of the anxiety:spectrum;Control:202 controls matched to the patients for sex, age and:ethnicity										
135146		mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831			16319504				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 Nov;53(1):16-Sep	Temperament and Character in Mood Disorders:Influence of DRD4, SERTPR, TPH and MAO-A Polymorphisms		182138	25567	2	2005												
135141	N	seasonal affective disorder	UNKNOWN	UNK	Genetic Predisposition to Disease|Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Johansson, C.  et al. 2001	11300730				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neurobiology of disease. 2001 Apr;8(2):351-7	Seasonal affective disorder and serotonin-related polymorphisms.		182138	25562	2	2001	Although minor effects cannot be excluded, our results suggest that these polymorphisms do not play a major role in the pathogenesis of SAD in the northern European population.	Case:82 seaseonal affective disorder patients Sweden, Finland, and Germany;Control:82 healthy controls Sweden, Finland, and Germany										
135142		Alzheimer's disease; anxiety disorder; depression; psychoses; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Assal, F.  et al. 2004	15313842				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of neurology. 2004 Aug;61(8):1249-53	Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease.		182138	25563	2	2004	 The 5-HT2A receptor polymorphism may contribute to the expression of psychosis and agitation/aggression in patients with Alzheimer disease. Absence of other positive associations may be due to the relatively small sample size and/or potentially small effect size of the polymorphisms and requires further study.	Cohort 96 patients with Alzheimer's diases California 										
135143		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Antisocial Personality Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Parsian, A.  et al. 2001	11525423				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2001 Jun;11(2):89-94	Serotonergic pathway genes and subtypes of alcoholism: association studies.		182138	25564	2	2001	These data indicate that the genes in the serotonergic pathway may be involved in the development of type II alcoholism but the gene effects are very small.	Case sample of alcoholics;Control normal controls										
135138		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Konishi, T.  et al. 2004	15066703				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Mexican		CDC GDPinfo	6532	Hs.591192			Alcohol (Fayetteville, NY). 2004 Jan;32(1):45-52	Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans.		182138	25559	2	2004	Our findings indicate that the DRD2 -141C Ins allele and the 5-HTTLPR S allele are genetic risk factors for alcoholism in Mexican-Americans, and that smoking modulates the association between genetic risk factors and alcoholism.	Case:130 Mexican-American alcoholic men;Control:251 nonalcoholic control subjects (105 men and 146:women)										
135139		schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Herken, H.  et al. 2003	12711403				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European psychiatry. 2003 Mar;18(2):77-81	Tardive dyskinesia is not associated with the polymorphisms of 5-HT2A receptor gene, serotonin transporter gene and catechol-o-methyltransferase gene.		182138	25560	2	2003	 Our findings indicated that 5-HT2A receptor gene, 5 HTT gene, and COMT gene polymorphisms were similar in schizophrenia with non-TD, schizophrenia with TD, and healthy controls. These polymorphisms, though, do not help to evaluate the susceptibility to TD.	Case:111/32 unrelated subjects who strictly met DSM-IV criteria for schizophrenia and tardive dyskinesia (n=32);Control:79 healthy unrelated controls										
135140		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Meira-Lima, I.  et al. 2004	15005715				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genes, brain, and behavior. 2004 Apr;3(2):75-9	Association analysis of the catechol-o-methyltransferase (COMT), serotonin transporter (5-HTT) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive-compulsive disorder.		182138	25561	2	2004	The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample. However, further studies using larger samples and family based methods are recommended to confirm these findings.	Control:202:controls;Case:79 obsessive compulsive disorder patients										
135135		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Borroni, B.  et al. 2005	16257094				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neurobiology of aging. 2005	Genetic correlates of behavioral endophenotypes in Alzheimer disease: Role of COMT, 5-HTTLPR and APOEpolymorphisms.		182138	25556	2	2005												
135136		alcoholism; cirrhosis	CHEMDEPENDENCY	CHEM	Hepatitis C|Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Pastorelli, R.  et al. 2001	11236836				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian	Italy	CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2001 Feb;25(2):221-7	Genetic determinants of alcohol addiction and metabolism: a survey in Italy.		182138	25557	2	2001	 Overall, our results provided no evidence of an increased susceptibility to develop alcoholism that was associated with the three genotypes investigated, either alone or in combination. An increased risk of developing liver cirrhosis for S/S homozygous carriers among alcohol-dependent patients was observed for the first time.	Case:60 alcoholics admitted to a specialized referral:center:Florence, Italy;Control:64 blood donors from the same hospital:Florence, Italy	alcohol smoking (tobacco)									
135137		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Segman, R. H.  et al. 2003	14583797				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2003 ;3(5):277-83	Association of dopaminergic and serotonergic genes with tardive dyskinesia in patients with chronic schizophrenia.		182138	25558	2	2003	No significant associations were found. Within the limitations imposed by the size of the clinical sample, these findings suggest that the above polymorphic loci do not contribute significantly to risk for TD. Further examination of loci that yielded positive results at a trend level and investigation of other candidate genetic loci coding for antipsychotic drug targets is warranted.	Case:59 schizophrenic patients with tardive dyskinesia:patients;Control:63 schizophrenic patients without tardive dyskinesia										
135132		opiate abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Galeeva, A. R.  et al. 2002	12173460				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Russian		CDC GDPinfo	6532	Hs.591192			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):593-8	[VNTR polymorphisms of the serotonin transporter and dopamine transporter genes in male opiate addicts]		182138	23496	2	2002	Thus, our results implicate the serotonin and dopamine transporters in early opiate abuse in male Russians and Tatars, and allow the following	Control:110 healthy men (56 Russians and 54 Tatars) of the same age who had no psychiatric or narcological record and denied the abuse of psychoactive drugs;Case:177 men (94 Russians and 83 Tatars) treated for opiate:addition										
135133	N	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Hong, C. J.  et al. 2003	12658362				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2003 Apr;110(4):345-51	Association study of the dopamine and serotonin transporter genetic polymorphisms and methamphetamine abuse in Chinese males.		182138	23497	2	2003	The findings of this study suggest that these polymorphisms do not play major roles in METH dependence in the Chinese-male population.	Case Chinese male methamphetamine dependent cases;Control:controls										
135134		depression; alcohol withdrawal	PSYCH	PSY	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Heinz, A.  et al. 2004	15148564				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2004 Aug;174(4):561-70	Pharmacogenetic insights to monoaminergic dysfunction in alcohol dependence.		182138	23498	2	2004	 Genetic constitution interacts with the in vivo availability of central dopamine and serotonin transporters during alcohol detoxification and may affect the severity of alcohol withdrawal and clinical depression.	Case detoxified alcoholics;Control healthy controls										
135129		panic disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Sand, P.  et al. 2000	12607224				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2000 Jul;1(3):147-50	Polymorphic MAO-A and 5-HT-transporter genes:analysis of interactions in panic disorder.		182138	23493	2	2000	There was no significant difference in odds ratios, suggesting that the observed increase of genetic liability by the long MAO-A gene promoter allele is not modified by the 5-HTT gene promoter polymorphism.	Case:144 German and Italian panic disorder patients;Control:175 German and Italian controls										
135130	Y	Parkinson's disease; alcohol abuse	NEUROLOGICAL	NEUR		17	17q11.1-q12	SLC6A4	25549031	25586831		Glatt, C. E.  et al. 2001	11279528				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Nature genetics. 2001 Apr;27(4):435-8	Screening a large reference sample to identify very low frequency sequence variants: comparisonsbetween two genes		182138	23494	2	2001	Both genes have unique roles in neuronal transmission, and variants in either gene might be associated with neurobehavioral phenotypes.	Cohort ethnically diverse reference sample 										
135131		antidepressant adverse effects	PHARMACOGENOMIC	PHARM	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Yoshida, K.  et al. 2004	15337646				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2004 Sep;161(9):1575-80	Prediction of antidepressant response to milnacipran by norepinephrine transporter gene polymorphisms		182138	23495	2	2004	 The results suggest that NET but not 5-HTT polymorphisms in part determine the antidepressant response to milnacipran.	Cohort 96 Japanese patients with major depressive disorder 	milnacipran									
135126		personality disorders	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Samochowiec, J.  et al. 2004	15292674				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2004 ;50(2):174-81	Polymorphisms in the Serotonin Transporter and Monoamine Oxidase and Their Relationship to Personality Traits Measured by the and Character Inventory and NEO Five-Factor Inventory in Healthy Volunteers		182138	23490	2	2004	Our results do not confirm the hypothesis that there is a simple correlation between single gene polymorphisms and a personality trait measured by the TCI and NEO-FFI scales.	Cohort 100 One hundred healthy volunteers(without psychiatric disorders) were recruited to represent a cross-section of the population of Szczecin (Poland) in terms of sex, age and education Poland 										
135127		panic disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Maron, E.  et al. 2004	15346539				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2004 Jul;5(3):149-54	Association between Serotonin-related Genetic Polymorphisms and CCK-4-induced Panic Attacks with or without 5-hydroxytryptophan Pretreatment in Healthy Volunteers		182138	23491	2	2004	These data suggest that functional genetic polymorphisms of the 5-HT system may influence the vulnerability to panic attacks and add to the growing evidence of inhibitory function of 5-HT in the neuronal circuitry of panic.	Cohort 32 healthy volunteers 										
135128		alcohol abuse	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Herman, A. I.  et al. 2005	15635592				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):74-8	Serotonin transporter promoter polymorphism and monoamine oxidase type A VNTR allelic variants together influence alcohol binge drinking risk in young women.		182138	23492	2	2005	These results support the hypothesis that binge drinking behavior in young adulthood may be influenced by neurobiological differences in serotonergic function conferred by functional polymorphisms in genes involved in serotonin processing.	Cohort 412 college students 										
135123		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Pae, C. U.  et al. 2005	15893580				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			Neuroscience research. 2005 Jun;52(2):195-9	No evidence for interaction between 5-HT2A receptor and serotonin transporter genes in schizophrenia.		182138	23487	2	2005	These results suggest that the interaction between 5-HTTLPR and 5-HTR2A polymorphisms may not contribute to susceptibility to schizophrenia as well as some clinical factors such as antipsychotic response, at least in the Korean population.	Case:111 patients with schizophrenia:Korea;Control:172 normal controls	antipsychotic drug family history									
135124		pathologic gambling	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Perez de Castro, I.  et al. 2002	12399942				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(9):927-8	Concurrent positive association between pathological gambling and functional DNA polymorphisms at the MAO-A and the 5-HT transporter genes		182138	23488	2	2002	The aggregation of findings in the MAO-A and 5-HTT genes suggests that the concurrent presence of two of their functional variants plays an important role in the etiology of this disorder among the male patients analyzed in this study. Therefore, our results indicate that MAO-A and 5-HTT regulatory polymorphisms may contribute simultaneously to part of the genetic dimension of PG, although, and because of the genetic heterogeneity of this disorder, this may not be a universal finding for all cases of PG.	Control:68:Caucasiancontrols;Case:68 Caucasian pathological gamblers central Spain										
135125		serotonin	NEUROLOGICAL	NEUR		17	17q11.1-q12	SLC6A4	25549031	25586831		Williams, R. B.  et al. 2003	12629534				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2003 Mar;28(3):533-41	Serotonin-related gene polymorphisms and central nervous system serotonin function.		182138	23489	2	2003	These findings suggest that effects of serotonin-related gene polymorphisms on CNS serotonergic function vary as a function of both ethnicity and gender. Further research will be required to determine the mechanism(s) underlying these differential effects. In the meanwhile, both ethnicity and gender should be taken into account in research evaluating effects of these and related polymorphisms on CNS serotonergic function, as well as the broad range of biological and behavioral functions that are regulated by CNS serotonergic function.	Cohort 165 community volunteers without current medical or psychiatric illness 										
135120		Alzheimer's disease; psychoses	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Rocchi, A.  et al. 2003	15000807				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Italy	CDC GDPinfo	6532	Hs.591192			Genetic testing. 2003 ;7(4):309-14	Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A):association studies with psychosis in Alzheimer disease.		182138	23484	2	2003	Our data strongly confirm results from previous studies suggesting that the C102 allele of the 5-HT2A receptor is associated with the occurrence of psychotic symptoms in AD. On the contrary, the serotonin transporter does not appear to be a major susceptibility factor in the pathophysiology of the disease.	Control:controls;Case sporadic Alzheimer's disease patients:Italy										
135121		psychoses	PSYCH	PSY	Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Mata, I.  et al. 2004	15048655				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Spanish		CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):88-94	Serotonergic polymorphisms and psychotic disorders in populations from North Spain		182138	23485	2	2004	No clear association was found between 5-HT2A variants and psychosis. However, marginal associations were observed between the 5-HTT LPR and VNTR variants and psychosis (P	Case:257 clinical sample of psychosis patients surrounding areas in Northern Spain;Control:334 ethnically matched controls										
135122		suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Anguelova, M.  et al. 2003	12874600				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2003 Jul;8(7):646-53	A systematic review of association studies investigating genes coding for serotonin receptors and the serotonin transporter: II. Suicidalbehavior.		182138	23486	2	2003	The 5-HTT result was robust and remained significant following sensitivity analysis, suggesting that 5-HTT may play a role in the predisposition to suicide.	Cohort 1,599/2,539 subjects pooled for wo specific meta-analyses 										
135117		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Golimbet, V. E.  et al. 2001	11490436				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2001 ;101(4):48-50	[Molecular genetic polymorphism of the genes of neurotransmitter systems in schizophrenics with early manifestation of the disease]		182138	23481	2	2001	These and earlier findings lead to the conclusion that A2A2 genotype was more frequently observed in the patients with more pronounced negative symptoms and high hereditary burden, which suggests that the A2A2 genotype is associated with an early onset.	Cohort 239 schizophrenic patients (31whose age was 12.6 +/- 3.6 years at the onset of the disease and 208 patients whose age was 23.5 +/- 6.7 years at the onset of the disease) 										
135118		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Coto, E.  et al. 2003	12605580				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Clin Sci (Lond).. 2003 Mar;104(3):241-5	5-Hydroxytryptamine 5-HT2A receptor and 5-hydroxytryptamine transporter polymorphisms in acute myocardial infarction.		182138	23482	2	2003	According to our data, the ss genotype would seem to have a protective role against MI, delaying the age of onset of the first episode, especially among smokers. This could be a consequence of the lower 5-HTT levels linked to the s allele, so that individuals homozygous for the ss genotype may have lower 5-HT re-uptake by platelets.	Case:210/95 myocardial infarction patients of < 55 years old (n=210) and patients with late-onset myocardial infarction (n=95, >60 years old);Control:238 healthy control subjects	smoking (tobacco)									
135119		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Migraine with Aura|Migraine without Aura|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Juhasz, G.  et al. 2003	14668201				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of neurogenetics. 2003 Apr-Sep;17(3-Feb):231-40	Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorphism and migraine.		182138	23483	2	2003	In conclusion, our results support that the genetic susceptibility of migraine may be associated with a locus at or near the 5-HT transporter gene.	Control:101 unrelated healthy controls;Case:126 migraine sufferers										
135114		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Arias, B.  et al. 2005	15728438				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of psychopharmacology (Oxford, England). 2005 Mar;19(2):166-72	Evidence for a combined genetic effect of the 5-HT(1A) receptor and serotonin transporter genes in the clinical outcome of major depressive patients treated with citalopram.		182138	23478	2	2005	Our results suggest that the combined effect of the serotonin transporter and the 5-HT(1A) receptor genes could be related to the clinical outcome of depressive patients treated with citalopram.	Cohort 130 Spanish origin patients 	citalopram									
135115		aggressive behavior	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Davidge, K. M.  et al. 2004	15318027				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2004 Sep;14(3):143-6	Association of the serotonin transporter and 5HT1Dbeta receptor genes with extreme, persistent and pervasive aggressive behaviour in children.		182138	23479	2	2004	While these preliminary findings should be interpreted cautiously, our data suggest that the 5HTT VNTR polymorphism is associated with measures of aggressive behaviour in a sample of children displaying extreme, persistent and pervasive aggression.	Control ethnically matched controls;Case:50 children with a minimum 2-year history of aggression and scores above the 90th percentile on the Aggression subscales of both the Child Behaviour Checklist and the Teacher's Report Form										
135116		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Minov, C.  et al. 2001	11311507				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2001 May;303(2):119-22	Serotonin-2A-receptor and -transporter polymorphisms: lack of association in patients withmajor depression		182138	23480	2	2001	Overall our results suggest that the investigated 5-HT2A and 5-HTTLPR polymorphisms are not major susceptibility factors in the etiology of major depression. However, subtypes might be identified at least on a basis of differential treatment response.	Control:121 healthy controls;Case:173 patients with major depression										
135111		schizophrenia; bipolar disorder; psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Chotai, J.  et al. 2004	15627807				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 ;51(1):9-Mar	Interaction between the tryptophan hydroxylase gene and the serotonin transporter gene in schizophrenia but not in bipolar or unipolar affective disorders.		182138	23475	2	2004	Thus, an interaction between TPH and 5-HTTLPR genes constitutes susceptibility to schizophrenia, thereby yielding apparent relationships between the major psychiatric symptomatology scores and genotype combinations in samples that are obtained by pooling schizophrenia with other diagnostic categories.	Control:241:controls;Case:814 patients comprising 114 with schizophrenia, 416 with bipolar affective disorder and 284 with unipolar affective disorder										
135112		alcohol abuse; neuroticism	CHEMDEPENDENCY	CHEM	Alcoholism|Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Sen, S.  et al. 2004	14744464				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2004 Feb;55(3):244-9	Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism.		182138	23476	2	2004	 These findings support a role for the serotonin transporter and GABA(A) alpha6 subunit in depression-related traits.	Cohort 384 subjects who completed the Neuroticism, Extraversion, and Openness Personality Inventory 										
135113		depression	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Joyce, P. R.  et al. 2003	14604448				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2003 Dec;6(4):339-46	Age-dependent antidepressant pharmacogenomics:polymorphisms of the serotonin transporter and G protein beta3 subunit as predictors of response to fluoxetine and nortriptyline.		182138	23477	2	2003	These differential pharmacogenetic predictors of antidepressant response by age, may provide clues to understanding the discontinuities in pharmacological responsiveness of child/adolescent and adult depressive disorders.	Cohort 169 depressed patients randomized to treatment with either fluoxetine or nortriptyline 	fluoxetine nortriptyline									
135108		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	17	17q11.1-q12	SLC6A4	25549031	25586831		Szilagyi, A.  et al. 2005	16167465				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacologia Hungarica. 2005 Mar;7(1):28-33	Combined effect of promoter polymorphisms in the dopamine D4 receptor and the serotonin transporter genes in heroin dependence.		182138	23472	2	2005												
135109		temperament	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Auerbach, J. G.  et al. 2001	11583250				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of child psychology and psychiatry, and allied disciplines. 2001 Sep;42(6):777-83	The association of the dopamine D4 receptor gene (DRD4) and the serotonin transporter promoter gene (5-HTTLPR) with temperament in 12-month-old infants.		182138	23473	2	2001	The infants were observed in a series of standard temperament episodes that elicited fear, anger, pleasure, interest, and activity. The implications and limitations of these findings are discussed.	Cohort 61 infants aged 12 months 										
135110		schizophrenia; bipolar disorder; affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Mood Disorders|Bipolar Disorder|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Chotai, J.  et al. 2003	12860364				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Italy	CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2003 Jul;119(2-Jan):99-111	Gene-environment interaction in psychiatric disorders as indicated by season of birth variations in tryptophan hydroxylase (TPH), serotonin transporter (5-HTTLPR) and dopamine receptor (DRD4) gene polymorphisms.		182138	23474	2	2003	Our results thus suggest an interaction between the seasons of birth and the expression of the candidate genes, and that season of birth is a confounding variable when investigating the role of the candidate genes in susceptibility to psychiatric disorders.	Control:395:controls;Case:954 patients with unipolar affective disorder, bipolar affective disorder, and schizophrenia										
135105		temperament	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Lakatos, K.  et al. 2003	12556912				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2003 Jan;8(1):90-7	Association of D4 dopamine receptor gene and serotonin transporter promoter polymorphisms with infants' response to novelty		182138	23469	2	2003	These genotype effects were not redundant with the previously reported association between the 7-repeat DRD4 allele and disorganized attachment behavior. Although both temperament and attachment behavior were affected by the DRD4 repeat polymorphism, the effect on temperament measures was modified by the infants' 5-HTTLPR genotype.	Cohort 90 infants 										
135106		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Auerbach, J. G.  et al. 2001	11409697				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2001 Mar;11(1):31-5	DRD4 related to infant attention and information processing: a developmental link to ADHD?		182138	23470	2	2001	Our results provide evidence for a possible developmental link between DRD4 and ADHD via early sustained attention and information processing.	Cohort not defined in abstract 										
135107		hyperkinetic disorder	OTHER	OTH	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Seeger, G.  et al. 2001	11684336				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2001 Nov;313(2-Jan):45-8	Marker gene polymorphisms in hyperkinetic disorder - predictors of clinical response to treatment with methylphenidate?		182138	23471	2	2001	Thus, our study supports the hypothesis that marker gene polymorphism may be helpful in identifying MPH non-responders.	Cohort hyperkinetic disorder patients 	methylphenidate									
135102		alexithymia	UNKNOWN	UNK		17	17q11.1-q12	SLC6A4	25549031	25586831		Ham, B. J.  et al. 2005	16127282				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 ;52(3):151-4	Association between the catechol O-methyltransferase Val108/158Met polymorphism and alexithymia.		182138	23466	2	2005												
135103		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder|Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rotondo, A.  et al. 2002	11772685				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Italy	CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2002 Jan;159(1):23-9	Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder.		182138	23467	2	2002	 The findings support the hypothesis that comorbid panic disorder identifies a genetic subtype of bipolar disorder and suggest a role for COMT and 5-HTT in vulnerability to these disorders.	Control:127 healthy subjects;Control:49 unrelated subjects of Italian descent with bipolar disorder without comorbid lifetime panic disorder;Case:49 unrelated subjects of Italian descent with bipolar disorder with comorbid lifetime panic disorder										
135104		fluvoxamine toxicity	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831		Suzuki, Y.  et al. 2005	16205777				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2005	Polymorphisms in the 5-Hydroxytryptamine 2A Receptor and CytochromeP4502D6 Genes Synergistically Predict Fluvoxamine-Induced Side Effects in Japanese Depressed Patients.		182138	23468	2	2005												
135099	Y	dance performance	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Bachner-Melman, R.  et al. 2005	16205790				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			PLoS genetics. 2005 Sep;1(3):e42	AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance.		182138	23463	2	2005												
135100		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cavallini, M. C.  et al. 2000	11166081				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2000 Dec;97(3-Feb):93-100	An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome.		182138	23464	2	2000	The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology.	Case:52 Tourette syndrome patients;Control:63 heatlhy individuals										
135101		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Han, D. H.  et al. 2004	15572182				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2004 Nov;129(1):29-37	Association of aggressive behavior in Korean male schizophrenic patients with polymorphisms in the serotonin transporter promoter and catecholamine-O-methyltransferase genes.		182138	23465	2	2004	Thus, the COMT gene is associated with the severity of aggression and with physical aggression against other people, whereas the 5-HTTPR gene is associated with the summary score of all episodes of aggression.	Control:158 unrelated male subjects with no lifetime history of psychiatric disorders ascertained through two psychiatric hospital staff and medical university:students;Case:168 unrelated male schizophrenic patients										
135096		depressive disorder, major; bipolar disorder; affective psychoses	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Cusin, C.  et al. 2001	11578639				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of psychiatric research. 2001 Jul-Aug;35(4):217-23	Influence of 5-HTTLPR and TPH variants on illness time course in mood disorders.		182138	19972	2	2001	Our results suggest that 5-HTTLPR variants may confer a susceptibility toward rapid cycling mood disorders.	Case:435/399 inpatients affected by major depressive (MD, n=153), bipolar (BP, n=213) and rapid cycling (n=69) mood disorders genotyped for SLC6A4(n=435) and MD, n=132; BP, n=203; rapid cycling n=64 genotyped for TPH (n=399);Control:456/259 controls genotyped for SLC6AA4 (n=456) and TPH:(n=259)										
135097	Y	suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Courtet, P.  et al. 2004	14706424				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2004 Jan;55(1):46-51	Serotonin transporter gene may be involved in short-term risk of subsequent suicide attempts.		182138	19980	2	2004	 These results suggest that the 5-HTTLPR SS genotype is associated with further suicide attempts among patients who have previously attempted suicide.	Cohort 103 patients hospitalized after a suicide attempt followed-up after 1 year 										
135098		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2004	15274037				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):36-40	Further evidence of a combined effect of SERTPR and TPH on SSRIs response in mood disorders.		182138	19982	2	2004	Thus, the previous positive association was not fully replicated for TPH. The present independent replication confirms SERTPR variants as a liability factor for antidepressant efficacy while the TPH effect is not unequivocal.	Cohort 221 inpatients (major depressives = 128, bipolar disorder = 93) 	fluvoxamine paroxetine									
135093		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Sjoberg, R. L.  et al. 2005	16212676				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2005	Development of depression: sex and the interactionbetween environment and a promoter polymorphism of the serotonin transporter gene.		182138	19608	2	2005												
135094		personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831			16313653				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychological science. 2005 Dec;16(12):921-6	Evidence for a gene-environment interaction in predicting behavioral inhibition in middle childhood		182138	19609	2	2005			social support									
135095		hypertension, pulmonary	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831			16399993				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of respiratory and critical care medicine. 2006	Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension		182138	19610	2	2006	 Variation of the serotonin transporter gene appears unlikely to confer significant susceptibility to pulmonary arterial hypertension. This study emphasizes the need for adequately powered cohorts for association analyses to identify not only genetic determinants of disease susceptibility but also inherited modifiers for disease development.											
135088		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Kraft, J. B.  et al. 2005	15993855				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2005 Sep;58(5):374-81	Sequence analysis of the serotonin transporter and associations with antidepressant response.		182138	19603	2	2005	 These results support an association between response to SSRIs and deoxyribonucleic acid variation at the serotonin transporter locus. We have also identified a potentially important functional variant that contributes to this association and a possible biologic mechanism that could mediate its effect.		fluoxetine									
135089		hypertension, pulmonary	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Vachharajani, A.  et al. 2005	16009349				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		United States	CDC GDPinfo	6532	Hs.591192			Biochemical and biophysical research communications. 2005 Aug;334(2):376-9	Allelic variation in the serotonin transporter (5HTT) gene contributes to idiopathic pulmonary hypertension in children.		182138	19604	2	2005												
135090		longevity	AGING	AGE		17	17q11.1-q12	SLC6A4	25549031	25586831		Gondo, Y.  et al. 2005	16095668				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Mechanisms of ageing and development. 2005 Nov;126(11):1178-84	Contribution of an affect-associated gene to human longevity: prevalence of the long-allele genotypeof the serotonin transporter-linked gene in Japanese centenarians.		182138	19605	2	2005												
135085		smoking behavior	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Kremer, I.  et al. 2005	15863794				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2005 May;162(5):924-30	Association of the serotonin transporter gene with smoking behavior.		182138	19600	2	2005	 There was a highly significant association between SERT and the categorical definition of smoking, irrespective of dependence level, suggesting that this gene influences the initiation of smoking. Mediation analysis failed to substantiate the hypothesis that novelty seeking partially mediates the effect of SERT on smoking. SERT appears to independently contribute to novelty seeking and smoking.	Case:244 "ever smokers"										
135086		depression	PSYCH	PSY	Hip Fractures|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Lenze, E. J.  et al. 2005	15879594				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of geriatric psychiatry. 2005 May;13(5):428-32	Association of the Serotonin Transporter Gene-Linked Polymorphic Region (5-HTTLPR) Genotype With Depression in Elderly Persons After Hip Fracture		182138	19601	2	2005	 Depressive symptoms and major depressive disorder in elderly persons after a stressful medical event may be associated with 5-HTTLPR genotype. This finding requires confirmation in a larger sample.	Cohort 23 elderly rehabilitation-hospital patients 										
135087		personality disorders	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia, E.  et al. 2005	15908092				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Progress in neuro-psychopharmacology & biological psychiatry. 2005 Jun;29(5):713-7	A pilot genetic study of the continuum between compulsivity and impulsivity in females: theserotonin transporter promoter polymorphism.		182138	19602	2	2005	More importantly, future studies need to consider that genetics may be related to behavioral dimensions (compulsivity to impulsivity) instead of to specific psychiatric disorders defined in clinical terms.	Control:112/118 non-impulsive controls (n=112) and impulsive suicidal patients (n=118);Case:24 obsessive-compulsive disorder cases										
135082		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rybakowski, J. K.  et al. 2005	15849387				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Pharmacological reports. 2005 Jan-Feb;57(1):124-7	Prophylactic effect of lithium in bipolar affective illness may be related to serotonin transporter genotype.		182138	19597	2	2005	The obtained results are discussed in view of other studies showing an association of S genotype with worse response to serotonergic drugs. A supposition is made that prophylactic management of bipolar illness can be optimized by defining 5-HTTLPR genotype.	Cohort 67 patients with bipolar mood disorder receiving lithium caronate for prophylactic purposes for the period of more than 5 years 										
135084	Y	anxiety disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Gallinat, J.  et al. 2005	15862212				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			NeuroImage. 2005 May;26(1):123-31	Association of human hippocampal neurochemistry, serotonin transporter genetic variation, and anxiety.		182138	19599	2	2005												
135079		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholic Intoxication	17	17q11.1-q12	SLC6A4	25549031	25586831		Nilsson, K. W.  et al. 2005	15834221				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2005 Apr;29(4):564-70	Role of the serotonin transporter gene and family function in adolescent alcohol consumption.		182138	19594	2	2005	 In sum, our results show that a functional polymorphism of the 5-HTT genotype, family relations, and interactions between these variables predict adolescent alcohol consumption in a randomized sample of adolescents.	Cohort 119/81 female (n=119) and male (n=81) adolescent volunteers 										
135080	Y	mood disorder	PSYCH	PSY	Mood Disorders|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2005	15840420				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2005 Apr;134(2):191-4	Social adjustment could be associated with the serotonin transporter gene in remitted patients with mood disorders and healthy subjects.		182138	19595	2	2005	Because of the exploratory nature of our analyses, all results should be viewed with caution. However, we observed how the s/s variant, commonly associated with detrimental effects, could be beneficial in specific areas of social adjustment.	Case:285 patients with mood disorders;Control:94 healthy controls										
135081	N	depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Gillespie, N. A.  et al. 2005	15842033				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychological medicine. 2005 Jan;35(1):101-11	The relationship between stressful life events, the serotonin transporter (5-HTTLPR) genotype and major depression.		182138	19596	2	2005	 Regardless of whether our results were based on binary logistic or ordinal regression analyses we found no evidence to support a main effect of 5-HTTLPR, or an interaction between the 5-HTTLPR genotype and stressful life events on major depression, Only 20 % of our subjects were aged below 30 years. It is possible that the effect reported by Caspi and colleagues is specific to young people, in which case our study has much less power in this age group.	Cohort 1,206 male and female twins aged 19-78 years (mean = 39, S.D. = 11) 										
135076	N	depression	PSYCH	PSY	Tobacco Use Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Brody, C. L.  et al. 2005	15718071				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Addictive behaviors. 2005 Mar;30(3):557-66	Depression vulnerability, cigarette smoking, and the serotonin transporter gene.		182138	19590	2	2005	Although depression vulnerability was associated with smoking behaviors, genotype did not significantly affect this relationship. Discussion centered on possible reasons for varying results across conceptually similar studies.											
135077	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Curran, S.  et al. 2005	15719397				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):42-7	The serotonin transporter gene as a QTL for ADHD.		182138	19591	2	2005	Thus, we show here that SLC6A4, which has a major influence on brain serotonin availability, may be a QTL for ADHD.	Cohort a large epidemiological sample 										
135078	Y	alcohol use	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Munafo, M. R.  et al. 2005	15729746				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):4-Oct	Association between the serotonin transporter gene and alcohol consumption in social drinkers.		182138	19593	2	2005	These results replicate recent previous findings and suggest a possibility that this association may differ in men and women.	Cohort social drinkers that are non-alcohol dependent UK 										
135073		personality trait	PSYCH	PSY	Genetic Predisposition to Disease|Phobic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Battaglia, M.  et al. 2005	15630076			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2005 Jan;62(1):85-94	Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions.		182138	19587	2	2005	 Children who manifest higher levels of shyness or have 1 or 2 copies of the short allele of the serotonin transporter promoter gene appear to have a different pattern of processing affective stimuli of interpersonal hostility.	Cohort 149 subjects from an inception cohort 										
135074		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Hoefgen, B.  et al. 2005	15691525				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2005 Feb;57(3):247-51	The power of sample size and homogenous sampling:association between the 5-HTTLPR serotonin transporter polymorphism and major depressive disorder.		182138	19588	2	2005	 These results support an involvement of 5-HTTLPR in the etiology of MDD. They also demonstrate that the detection of small genetic effects requires very large and homogenous samples.	Case:466 German major depressive disorder patients;Control:836:controls										
135075		personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Hariri, A. R.  et al. 2005	15699291				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2005 Feb;62(2):146-52	A susceptibility gene for affective disorders and the response of the human amygdala.		182138	19589	2	2005	 Our results reveal a potent modulatory effect of the 5-HTTLPR on amygdala reactivity to environmental threat. Since this genetically driven effect exists in healthy subjects, it does not, in and of itself, predict dimensions of mood or temperament. As such, the 5-HTTLPR may represent a classic susceptibility factor for affective disorders by biasing the functional reactivity of the human amygdala in the context of stressful life experiences and/or deficient cortical regulatory input.	Cohort 92 volunteers carefully screened for past and present medical or psychiatric illness 										
135070		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kaufman, J.  et al. 2004	15563601				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Proceedings of the National Academy of Sciences of the United States of America. 2004 Dec;101(49):17316-21	Social supports and serotonin transporter gene moderate depression in maltreated children.		182138	19584	2	2004	These findings are consistent with emerging preclinical and clinical data suggesting that the negative sequelae associated with early stress are not inevitable. Risk for negative outcomes may be modified by both genetic and environmental factors, with the quality and availability of social supports among the most important environmental factors in promoting resiliency in maltreated children, even in the presence of a genotype expected to confer vulnerability for psychiatric disorder.	Cohort maltreated children 										
135071		alcoholism; attention deficit hyperactivity disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Wodarz, N.  et al. 2004	15570522				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatrische Praxis. 2004 Nov;31 Suppl 1:S111-3	[ADHD and alcohol dependence: a common geneticpredisposition?]		182138	19585	2	2004	 In our sample the functional relevant 5-HTT-promoter and the 5-HT2c-receptor Cys23Ser polymorphism do not contribute to the supposed common genetic predisposition of ADHD and alcohol dependence.	Control matched controls;Case:314 alcoholics of German descent										
135072		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Javors, M. A.  et al. 2005	15610939				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Progress in neuro-psychopharmacology & biological psychiatry. 2005 Jan;29(1):13-Jul	Platelet serotonin uptake and paroxetine binding among allelic genotypes of the serotonin transporter in alcoholics		182138	19586	2	2005	Our findings in currently drinking alcoholics support the hypothesis that those with the LL genotype of the 5'-HTTLPR region of the 5-HTT gene have reduced 5-HTT function.	Cohort alcoholics 										
135067		depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Nobile, M.  et al. 2004	15312818				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2004 Aug;56(4):292-5	A case-control and family-based association study of the 5-HTTLPR in pediatric-onset depressive disorders.		182138	19580	2	2004	 A role for the 5-HTTLPR locus that needs replication in larger samples is suggested in childhood DD.	Control:68 unrelated age- and gender-matched healthy controls;Case:68 unrelated patients with depressive disorder										
135068		antidepressant adverse effects	PHARMACOGENOMIC	PHARM	Akathisia, Drug-Induced|Chromosome Deletion|Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Putzhammer, A.  et al. 2004	15322730				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2005 Mar;178(3-Feb):303-8	Evidence of a role for the 5-HTTLPR genotype in the modulation of motor response to antidepressant treatment.		182138	19582	2	2004	 Homozygosity for the long variant of the 5-HTTLPR may cause a predisposition to increased night-time motor activity in conjunction with SSRI treatment.	Cohort 62 patients with major depression who were being treated with either SSRIs or tricyclic antidepressants (TCAs) 										
135069		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Correa, H.  et al. 2004	15521831				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Brazil	CDC GDPinfo	6532	Hs.591192			Acta psychiatrica Scandinavica. 2004 Dec;110(6):459-64	Familial suicide behaviour: association withprobands suicide attempt characteristics and 5-HTTLPR polymorphism.		182138	19583	2	2004	 Our results suggest that multiple biological and environmental factors underlie familial transmission of suicidal behaviour.											
135064		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Sun, H. S.  et al. 2004	15167705				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Pharmacogenetics. 2004 Mar;14(3):173-9	Sequence variants and haplotype analysis of serotonin transporter gene and association with bipolar affective disorder in Taiwan		182138	19577	2	2004	 This study suggested that a particular SLC6A4 haplotype harboring functional sequence variant could play a significant role in BPD etiology in Taiwan. However, due to its modest sample size, the conclusion is not final and should be confirmed in the future studies.	Control:103:controls;Case:90 unrelated type 1 bipolar affective disorder:patients:Taiwan										
135065	N	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Chabane, N.  et al. 2004	15172105				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		France|Germany	CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2004 Jun;363(2):154-6	Lack of evidence for association between serotonin transporter gene (5-HTTLPR) and obsessive-compulsive disorder by case control and family association study in humans.		182138	19578	2	2004	No association was detected between the 5-HTTLPR polymorphism and OCD in either the case control study or the family study.	Case:106 French obsessive compulsive disorder patients;Control:171 healthy controls										
135066	Y	brain electrical response	NEUROLOGICAL	NEUR		17	17q11.1-q12	SLC6A4	25549031	25586831		Fallgatter, A. J.  et al. 2004	15187981				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2004 Aug;29(8):1506-11	Allelic variation of serotonin transporter function modulates the brain electrical response for error processing.		182138	19579	2	2004	These results indicate that the 5-HTTLPR short variant is associated with enhanced responsiveness of the brain and further supports the notion that prefrontal brain function is influenced by allelic variation in serotonin transporter function.	Cohort healthy subjects 										
135061		serotonergic function	UNKNOWN	UNK		17	17q11.1-q12	SLC6A4	25549031	25586831		Manuck, S. B.  et al. 2004	15041087				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychoneuroendocrinology. 2004 Jun;29(5):651-68	Socio-economic status covaries with central nervous system serotonergic responsivity as a function of allelic variation in the serotonin transporter gene-linked polymorphic region		182138	19574	2	2004	We conclude that  allelic variation at 5-HTTLPR moderates the influence of social position on CNS serotonergic responsivity.	Cohort 139 adult men and women 										
135062	Y	substance abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	17	17q11.1-q12	SLC6A4	25549031	25586831		Gerra, G.  et al. 2004	15048645				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):37-42	Association between low-activity serotonin transporter genotype and heroin dependence:Behavioral and personality correlates		182138	19575	2	2004	Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to "S" promoter polymorphism, may be associated with an increased risk for substance use disorders, particularly in the subjects with more consistent aggressiveness and impulsiveness.	Case:101 heoin addicts;Control:101 healthy control subjects matched for race and gender, with no history of substance use disorder										
135063	Y	bipolar disorder	PSYCH	PSY	Thyroid Diseases|Mood Disorders|Bipolar Disorder|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2004	15111989				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2004 ;4(4):267-73	Further evidence for a possible association between serotonin transporter gene and lithium prophylaxis in mood disorders.		182138	19576	2	2004	Notwithstanding the conflicting results, SERTPR variants are a possible liability factor for lithium long-term efficacy in mood disorders. Further studies on independent and large samples are required to determine the reliability and direction of the possible association between SERTPR variants and lithium outcome.	Cohort 83 subjects affected by Bipolar disorder Athens, Greece 										
135058		serotonin transporter protein	UNKNOWN	UNK		17	17q11.1-q12	SLC6A4	25549031	25586831		van Dyck, C. H.  et al. 2004	14992979				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	European American		CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2004 Mar;161(3):525-31	Central serotonin transporter availability measured with [123I]beta-CIT SPECT in relation to serotonin transporter genotype		182138	19571	2	2004	 These results do not suggest higher central SERT levels in association with the long allele in European American subjects but point to a more complex relationship between SLC6A4 genotype and protein availability.	Cohort 96 healthy European American subjects who underwent single photon emission computed tomography scanning [123I]2beta-carbomethoxy-3beta-(4-iodophenyl) tropane ([123I]beta-CIT) for measurement of central SERT availability 										
135059	Y	personality disorders	PSYCH	PSY	Anxiety Disorders|Personality Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Jacob, C. P.  et al. 2004	14992987				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2004 Mar;161(3):569-72	Association between allelic variation of serotonin transporter function and neuroticism in anxious cluster C personality disorders		182138	19572	2	2004	 These findings support the notion that there is no general association between the 5-HTTLPR and anxiety-related traits and that differential gene effects and/or gene-by-environment interactions are likely operative in distinct clinical subpopulations.	Control:281 healthy volunteers;Case:320 patients with personality disorders										
135060		attention deficit disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Beitchman, J. H.  et al. 2003	14998889				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Annals of the New York Academy of Sciences. 2003 Dec;1008:248-51	The serotonin transporter gene in aggressive children with and without ADHD and nonaggressive matched controls		182138	19573	2	2003	Given the small sample size and the preliminary nature of our findings, replication is necessary.	Case highly aggressive Caucasian children;Control matched controls										
135055	Y	SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	17	17q11.1-q12	SLC6A4	25549031	25586831		Weese-Mayer, D. E.  et al. 2003	12966525				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part A. 2003 Oct;122(3):238-45	Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.		182138	19568	2	2003	These data, if confirmed in larger studies, may begin to explain the differences in SIDS incidence by ethnicity, suggest a role for levels of 5-HTT expression in generation of SIDS susceptibility, and provide an important tool for identifying at-risk individuals and estimating the risk of recurrence.	Control gender/ethnicity-matched controls;Case:90 SIDS cases (44 African-American and 46 Caucasian)										
135056		affective disorder	PSYCH	PSY	Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Thierry, N.  et al. 2004	14659987			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European neuropsychopharmacology. 2004 Jan;14(1):53-8	Serotonin transporter promoter gene polymorphic region (5-HTTLPR) and personality in female patients with seasonal affective disorder and in healthy controls.		182138	19569	2	2004	Our data indicate that females with SAD show altered personality traits. The s allele was associated with lower Self-Directedness scores in SAD patients, whereas there were no significant differences in TCI dimensions between patients and controls in carriers of the long allele.	Case:56 female patients with seasonal affective disorder;Control:76 age-matched female controls										
135057		suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia, E.  et al. 2003	14714116				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European archives of psychiatry and clinical neuroscience. 2003 Dec;253(6):281-5	A pilot study on a gene-hormone interaction in female suicide attempts		182138	19570	2	2003	Despite sample size limitations, this gene-hormone interaction needs to be further investigated in female suicide attempters.	Cohort all suicide attempters in a catchment area during one year 	hormones									
135052		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Anguelova, M.  et al. 2003	12851635				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2003 Jun;8(6):574-91	A systematic review of association studies investigating genes coding for serotonin receptors and the serotonin transporter: I. Affectivedisorders.		182138	19565	2	2003	Therefore, these results suggest that, although promising, further studies are required to assess appropriately the evidence suggesting an association between BD and 5-HTT.	Cohort results from 86 studies 										
135053		depression	PSYCH	PSY	Disease Susceptibility|Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Caspi, A.  et al. 2003	12869766				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Science. 2003 Jul;301(5631):386-9	Influence of life stress on depression: moderationby a polymorphism in the 5-HTT gene.		182138	19566	2	2003	This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup.	Cohort individuals from a representative birth cohort 										
135054		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831			12942632				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Russian	Bashkiria	CDC GDPinfo	6532	Hs.591192			Molekuliarnaia biologiia. 2003 Jul-Aug;37(4):601-6	[Association of the hSERT and SLC6A4 polymorphic markers of the serotonin transporter gene with schizophrenia in different ethnic groups]		182138	19567	2	2003	A difference in genetic predisposition was observed for continuous and shift-like schizophrenia forms, the former tending to be associated with genotype 12/12 in Tatars and L/L in Russians.	Cohort schizophrenia patients varying in ethnicity 										
135049		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	17	17q11.1-q12	SLC6A4	25549031	25586831		Weese-Mayer, D. E.  et al. 2003	12599191				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African American		CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part A. 2003 Mar;117(3):268-74	Sudden infant death syndrome: association with apromoter polymorphism of the serotonin transporter gene.		182138	19562	2	2003	These results indicate a relationship between SIDS and the L allele of the 5-HTT gene in African Americans and Caucasians, and if confirmed, will provide an important tool for identifying at-risk individuals and estimating the risk of recurrence.	Cohort 87 SIDS cases 										
135050	Y	depression	PSYCH	PSY	Depressive Disorder|Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Brummett, B. H.  et al. 2003	12605095				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2003 Mar;13(1):13-8	Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depressionand gender		182138	19563	2	2003	 The present findings failed to replicate prior work suggesting that the short variant of the 5-HTTLPR allele is associated with higher Neuroticism and lower Agreeableness.	Case:103 geriatric depressed patients;Control:99 non-depressed age matched controls										
135051	Y	auditory evoked potential	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Strobel, A.  et al. 2003	12627465				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):41-7	Allelic variation in serotonin transporter function associated with the intensity dependence of the auditory evoked potential.		182138	19564	2	2003	Individuals with the ll genotype exhibited a stronger intensity dependence compared to individuals with the ls genotype. This effect was even more pronounced when DRD4 exon III was considered in the analyses. In conclusion, these findings provide further evidence for a role of serotonergic neurotransmission in the modulation of the AEP intensity dependence. The results also point to possible dopaminergic influences on the AEP intensity dependence.	Cohort 60 healthy young individuals 										
135046	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Kent, L.  et al. 2002	12232786				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(8):908-12	Evidence that variation at the serotonin transporter gene influences susceptibility to attention deficit hyperactivity disorder (ADHD):analysis and pooled analysis.		182138	19559	2	2002	This study provides further evidence for the possible involvement of the serotonin transporter in susceptibility to ADHD.	Case ADHA probands;Control:controls:Cohort:113 ADHD parent proband trios										
135047		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Ito, K.  et al. 2002	12374640				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2002 Aug;111(3-Feb):235-9	A variable number of tandem repeats in the serotonin transporter gene does not affect the antidepressant response to fluvoxamine		182138	19560	2	2002	The present study showed no significant association between the polymorphism of VNTR in the STin2 and the treatment response to fluvoxamine.	Cohort 66 patients with major depressive disorder 	fluvoxamine									
135048		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Eichhammer, P.  et al. 2003	12563545			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2003 Mar;166(3):294-7	Allelic variation in the serotonin transporter promoter affects neuromodulatory effects of a selective serotonin transporter reuptake inhibitor (SSRI)		182138	19561	2	2003	 Distinct neuromodulatory effects after intake of citalopram based on allelic variations of the 5-HTTLPR may explain variable response of patients treated with SSRIs.	Cohort healthy volunteers 	citalopram									
135043		depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rausch, J. L.  et al. 2002	11983186				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2002 May;51(9):723-32	Initial conditions of serotonin transporter kinetics and genotype: influence on SSRI treatmenttrial outcome		182138	19556	2	2002	 This is the first study to examine the antidepressant dose-response relationship to 5-HTT kinetics and genetics. The findings indicate that both the initial affinity and genotype of 5-HTT may contribute in unique ways to the variation in the outcome of depression treatment trials.	Cohort 51 patients with major depression 	fluoxetine									
135044		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Orlacchio, A.  et al. 2002	12023056				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2002 May;325(1):13-6	Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease.		182138	19557	2	2002	Our result suggests that the 267C allele of the 5-HT(6) receptor gene may not be a genetic risk factor for AD.											
135045		autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Anderson, G. M.  et al. 2002	12232775			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(8):831-6	Serotonin transporter promoter variants in autism:functional effects and relationship to platelet hyperserotonemia.		182138	19558	2	2002	We conclude that  the 5-HTTLPR is not a major determinant of the group mean platelet serotonin elevation seen in autism. However, a role for increased uptake in the hyperserotonemia of autism can not be ruled out. In addition, it appears that studies of platelet 5-HT measures in autism and other disorders should take account of the effects of 5-HTTLPR genotype on 5-HT uptake	Cohort 31 French individuals with autism 										
135040		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2001	11913731				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2001 ;1(1):71-7	Serotonin transporter gene associated with lithium prophylaxis in mood disorders.		182138	19553	2	2001	5-HTTLPR variants may be a possible influencing factor for the prophylactic efficacy of lithium in mood disorders.	Cohort 201 subjects affected by bipolar (n = 167) and major depressive (n = 34) disorder 	lithium									
135041		depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Steffens, D. C.  et al. 2002	11925279				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of geriatric psychiatry. 2002 Mar-Apr;10(2):185-91	Allelic differences in the serotonin transporter-linked polymorphic region in geriatric depression.		182138	19554	2	2002	Our results add to the literature linking this gene to affective illness. The negative association of allele frequency and depression may be related to the relatively small sample size. The findings raise the possibility that this genetic locus may exert differential effects based on gender, increasing risk in men, and increasing risk of recurrence in women.	Control:107 elderly control subjects;Case:182 older depressed subjects										
135042	Y	suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia, E.  et al. 2002	11927194				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2002 May;26(5):692-5	A gender-specific association between the serotonin transporter gene and suicide attempts.		182138	19555	2	2002	Lethality appeared to have a significant influence on the effects of the genotype in suicide since S females were overrepresented among non-lethal female attempters. Further studies are needed to replicate that the serotonin genotype polymorphism may influence suicide attempts only in females.	Case:180 suicide attempters (121 women and 59 men);Control:212 control blood donors (93 women and 119 men)										
135037		depression	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Zanardi, R.  et al. 2001	11543734				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2001 Sep;50(5):323-30	Factors affecting fluvoxamine antidepressant activity: influence of pindolol and 5-HTTLPR indelusional and nondelusional depression		182138	19550	2	2001	 If confirmed, these results may improve patient care by helping the clinician to individualize treatment according to the patient's genetic 5-HTTLPR pattern.	Cohort 155 inpatients were treated with fluvoxamine 300 mg and either placebo or pindolol in a double-blind design 	fluvoxamine pindolol									
135038	N	psychoses, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Psychotic Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2002	11803453				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Italy	CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(1):95-9	Serotonin transporter gene (5-HTTLPR) and major psychoses.		182138	19551	2	2002	5-HTTLPR variants are not therefore a liability factor for major psychoses or for major psychoses symptomatology.	Case:1820 inpatients (789 bipolars, 667 major depressives, 66 delusionals, 261 schizophrenics, 37 psychotics not otherwise specified-NOS);Control:457 control subjects not otherwise specified in:abstract										
135039		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Yoshid, K.  et al. 2002	11817517				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		CDC GDPinfo	6532	Hs.591192			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Feb;26(2):383-6	Influence of the serotonin transporter gene-linked polymorphic region on the antidepressant response to fluvoxamine in Japanese depressed patients.		182138	19552	2	2002	The present study suggests that fluvoxamine is not less effective in depressive patients carrying the s allele than in the ones carrying the l allele and it is not less effective in Japanese than in Caucasians.	Cohort 66 Japanese patients with major depressive disorder in a protocolized-dosing 6-week study 	fluvoxamine									
135034		sudden infant death syndrome (SIDS)	UNKNOWN	UNK	Sudden Infant Death|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Narita, N.  et al. 2001	11335745				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese	Japan	CDC GDPinfo	6532	Hs.591192			Pediatrics. 2001 Apr;107(4):690-2	Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population.		182138	19546	2	2001	 Efficiency in the transportation of 5-HTT with the L allele is known to be higher than that with the S allele. The excitatory function by 5-HT is considered to be lower in the respiratory center of individuals with the L allele compared with those with S allele. The XL allele variant has shown another novel biological risk factor for SIDS.	Control:115 age-matched healthy controls;Case:27 SIDS victims										
135035		suicidal behavior	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Zalsman, G.  et al. 2001	11353442			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Israel	CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2001 Apr;105(3):239-45	Family-based association study of serotonin transporter promoter in suicidal adolescents: noassociation with suicidality but possible role in violence traits.		182138	19547	2	2001	This study suggests that the 5-HTTLPR polymorphism is unlikely to have major relevance to the pathogenesis of suicidal behavior in adolescence but may contribute to violent behavior in this population.	Control biological parents of patients;Case:48 suicidal adolescent inpatients:Israel										
135036		mania, antidepressant-induced	PSYCH	PSY	Community-Acquired Infections|Mental Disorders|Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Mundo, E.  et al. 2001	11386982				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2001 Jun;58(6):539-44	The role of serotonin transporter protein gene in antidepressant-induced mania in bipolar disorder:preliminary findings.		182138	19548	2	2001	 If these results are replicated, the 5HTTLPR polymorphism may become an important predictor of abnormal response to medication in patients with BP.	Control unrelated, matched patients with a diagnosis of BP I or II, who had been exposed to proserotonergic antidepressants without development of manic or hypomanic symptoms (IM- group);Case:27 patients with a diagnosis of bipolar disorder I or II, with at least 1 manic or hypomanic episode induced by treatment with proserotonergic:antidepressants (IM+ group)	antidepressants									
135031		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Mynett-Johnson, L.  et al. 2000	11121194				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2000 Dec;96(6):845-9	Multimarkerhaplotypes within the serotonin transporter gene suggest evidence of an association with bipolar disorder.		182138	19542	2	2000	Data from two and three polymorphic marker haplotypes revealed a number of marker combinations that showed evidence supportive of association; the most significant being for polymorphisms 5-HTTLPR and 3' UTR G/T (global chi(2), 12.91, df 3, P = 0.005). In addition, modest evidence of association also was observed for 5-HTTLPR alone	Cohort 106 trios 										
135032	Y	bipolar disorder; unipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Mellerup, E.  et al. 2001	11240581				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Acta psychiatrica Scandinavica. 2001 Mar;103(3):229-33	Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients		182138	19543	2	2001	 An association was observed between the polymorphism in intron 2 of the serotonin transporter gene and the number of platelet serotonin transporters. Unipolar patients with a particular genotype had more platelet serotonin transporters than the corresponding controls and bipolar patients.	Case unipolar and bipolar patients;Control:controls										
135033	Y	Parkinson's disease; depression	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Mossner, R.  et al. 2001	11326308				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2001 May;6(3):350-2	Allelic variation of serotonin transporter expression is associated with depression in Parkinson's disease.		182138	19545	2	2001	Thus, the 5HTTLPR but not the MAOA gene promoter-associated polymorphism may be a risk factor for depression in PD patients, while neither polymorphism increases the risk for development of Parkinson's disease itself.	Cohort Parkinson's disease patients 										
135028		suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Jernej, B.  et al. 2004	15168220			intron	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Croatia	CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2004 Jun;111(6):733-8	Intronic polymorphism of tryptophan hydroxylase and serotonin transporter: indication for combinedeffect in predisposition to suicide		182138	14484	2	2004	Concurrent presence of the two, allegedly transcriptionally less active, variants of these genes seems to be in some kind of relation to the increased susceptibility to suicide.	Case:192 suicide victims;Control:377:controls										
135029		anxiety disorder	PSYCH	PSY	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		You, J. S.  et al. 2005	15722951				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2005 Mar;15(1):11-Jul	Serotonin transporter and tryptophan hydroxylase gene polymorphisms in Chinese patients with generalized anxiety disorder.		182138	14492	2	2005	 Our findings support that the presence of 5-HTTLPR-SS genotype may increase the risk of GAD.	Case:138 patients with generalized anxiety disorder;Control:90 healthy controls										
135030		antidepressant response	PHARMACOGENOMIC	PHARM	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Pollock, B. G.  et al. 2000	11027924			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2000 Nov;23(5):587-90	Allelic variation in the serotonin transporter promoter affects onset of paroxetine treatment response in late-life depression.		182138	19541	2	2000	Allelic variation of 5-HTTLPR may contribute to the variable initial response of patients treated with a selective serotonin reuptake inhibitor.	Cohort 95 elderly patients receiving a protocolized treatment for depression 	nortriptyline paroxetine									
135025		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Pae, C. U.  et al. 2005	16252073				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2005	Interaction analysis between 5-HTTLPR and TNFA -238/-308 polymorphisms in schizophrenia.		182138	14369	2	2005			antipsychotic drug family history	SLC6A4	5-HTTLPR	TNFA	238/-308			N		schizophrenia
135026	N	depressed suicide; suicide due to depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Du, L.  et al. 2000	11343598	218A/C			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2000 Sep;3(3):215-220	Tryptophan hydroxylase gene 218A/C polymorphism is not associated with depressed suicide.		182138	14471	2	2000	The frequency of the L/L genotype in depressed suicide victims was almost double of that found in control group (48.6 vs. 26.2%). The odds ratio for the L allele associated with depressed suicide was 2.1 (95% CI, 1.2-3.7). The relatively small sample size does not exclude the possibility of false-positive results and the finding needs replication.	Case:35 depressed suicide victims;Control:84` control subjects of the same ethnic background										
135027	N	nausea	OTHER	OTH	Nausea|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Takahashi, H.  et al. 2002	12208565				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European neuropsychopharmacology. 2002 Oct;12(5):477-81	No association between the serotonergic polymorphisms and incidence of nausea induced by fluvoxamine treatment.		182138	14479	2	2002	Results suggested that these three polymorphisms did not affect the development of fluvoxamine-induced nausea, and that incidence of nausea was not a phenomenon that predicts the treatment response to fluvoxamine.	Cohort 66 patients treated with fluvoxamine in a protocolized-dosing method. 	fluvoxamine									
135022		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831			16362658				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The journal of headache and pain. 2005 Sep;6(4):182-4	Functional serotonin 5-HTTLPR polymorphism is a risk factor for migraine with aura		182138	13981	2	2005												
135023	Y	bipolar disorder; mania, antidepressant-induced	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831			16395126			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2006 Feb;16(1):25-9	Serotonin transporter linked promoter (polymorphism) in the serotonin transporter gene may be associated with antidepressant-induced mania in bipolar disorder		182138	13982	2	2006	 The 5-HTTLPR polymorphism could be a useful contributor, among other clinical variables, to predict the risk for manic switches when a patient with bipolar disorder is treated with antidepressant drugs. The contribution of these genetic markers in diagnosis expression and treatment response to lithium is likely to be minor.											
135024		autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831			16395127			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2006 Feb;16(1):31-4	Hardy-Weinberg disequilibrium identified genotyping error of the serotonin transporter (SLC6A4) promoter polymorphism		182138	13983	2	2006												
135017		sleep disorders	UNKNOWN	UNK		17	17q11.1-q12	SLC6A4	25549031	25586831		Yue, W.  et al. 2005	16215942				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):533-6	[Association study of sleep apnea syndrome and polymorphisms in the serotonin transporter gene]		182138	13976	2	2005	 The allele 10 of 5-HTT-VNTR might be a susceptible factor in the pathogenesis of SAS.											
135018		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, S. J.  et al. 2005	16220023				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 ;52(4):176-82	Obsessive-compulsive disorder, factor-analyzed symptom dimensions and serotonin transporter polymorphism.		182138	13977	2	2005												
135019		eating disorder	PSYCH	PSY	Eating Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Monteleone, P.  et al. 2005	16249995				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):9-Jul	Association of a functional serotonin transporter gene polymorphism with binge eating disorder.		182138	13978	2	2005												
135013		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Surtees, P. G.  et al. 2005	16154545				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2005	Social Adversity, the Serotonin Transporter (5-HTTLPR) Polymorphism and Major Depressive Disorder.		182138	13972	2	2005	 This study has not replicated a previous finding of a GxE interaction between the 5-HTTLPR genotype, social adversity, and depression.											
135015		bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Meira-Lima, I.  et al. 2005	16186633			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of molecular neuroscience. 2005 ;27(2):219-24	Allelic association analysis of the functional insertion/deletion polymorphism in the promoter region of the serotonin transporter gene in bipolar affective disorder.		182138	13974	2	2005												
135016		myocardial infarct; depression; cardiac death; heart failure; angina; arrhythmia, cardiac	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q11.1-q12	SLC6A4	25549031	25586831		Nakatani, D.  et al. 2005	16209960				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American heart journal. 2005 Oct;150(4):652-8	Influence of serotonin transporter gene polymorphism on depressive symptoms and new cardiac events after acute myocardial infarction.		182138	13975	2	2005	 The S allele in the 5-HTT gene-linked polymorphic region is associated with an increased risk for subsequent cardiac events, which is mediated, at least in part, by the depressive symptoms in patients after AMI.											
135010		cognitive function	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Payton, A.  et al. 2005	16103887				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Dec;10(12):1133-9	Influence of serotonin transporter gene polymorphisms on cognitive decline and cognitive abilities in a nondemented elderly population.		182138	13968	2	2005												
135011		migraine	NEUROLOGICAL	NEUR	Migraine Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, W. K.  et al. 2005	16109120				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean	Korea	CDC GDPinfo	6532	Hs.591192			Headache. 2005 Sep;45(8):1056-60	Serotonin transporter gene polymorphism and migraine in the Korean population.		182138	13969	2	2005	 A 5-HTTLPR polymorphism does not appear to be involved in the genetic predisposition to migraines.											
135012		alcohol abuse; cocaine abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Cocaine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Mannelli, P.  et al. 2005	16109588				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African Americans		CDC GDPinfo	6532	Hs.591192			Addiction biology. 2005 Sep;10(3):261-8	Polymorphism in the serotonin transporter gene and response to treatment in African American cocaine and alcohol-abusing individuals.		182138	13970	2	2005												
135006		glucose	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Yamakawa, M.  et al. 2005	16038876				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Japan	CDC GDPinfo	6532	Hs.591192			Biochemical and biophysical research communications. 2005 Sep;334(4):1165-71	Serotonin transporter polymorphisms affect human blood glucose control.		182138	13964	2	2005												
135007		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Xu, X.  et al. 2005	16082690				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):3-Nov	Family-based association study of serotonin transporter gene polymorphisms in attention deficit hyperactivity disorder: No evidence for associationin UK and Taiwanese samples.		182138	13965	2	2005												
135008		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, S. J.  et al. 2005	16082698				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):14-8	Family-based association study of the serotonin transporter gene polymorphisms in Korean ADHD trios.		182138	13966	2	2005												
135002		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		De Luca, V.  et al. 2005	15986189				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2005 Oct;182(1):128-31	Association study of a novel functional polymorphism of the serotonin transporter gene in bipolar disorder and suicidal behaviour.		182138	13960	2	2005												
135003		panic disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Martinez-Barrondo, S.  et al. 2005	15999296				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Actas Esp Psiquiatr. 2005 Jul-Aug;33(4):210-5	Serotonin gene polymorphisms in patients with panic disorder.		182138	13961	2	2005	 The polymorphisms studied were not associated with PD in our population. However, larger patient samples are necessary to confirm or reject these findings.											
135004		depression; neuroticism	PSYCH	PSY	Neurotoxicity Syndromes	17	17q11.1-q12	SLC6A4	25549031	25586831		Willis-Owen, S. A.  et al. 2005	16023085				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2005 Sep;58(6):451-6	The serotonin transporter length polymorphism, neuroticism, and depression: a comprehensiveassessment of association.		182138	13962	2	2005	 Our data do not support the hypothesis that the 5-HTTLPR variant contributes significantly toward human emotionality as indexed by either the Eysenck Personality Questionnaire N scale or the DSM-IV for MD.											
134998		personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, S. J.  et al. 2005	15905629				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 ;51(4):243-7	Serotonin transporter gene polymorphism and personality traits in a Korean population.		182138	13956	2	2005	Our results suggest that the 5-HTTLPR polymorphism may be associated with the persistence score of the TCI in a normal Korean population.	Cohort 211 Korean unrelated, normal subjects 										
134999		personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Dragan, W. L.  et al. 2005	15905633				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2005 ;51(4):269-74	Polymorphisms in the serotonin transporter gene and their relationship to two temperamental traits measured by the formal characteristics of behavior-temperament inventory: activity andemotional reactivity.		182138	13957	2	2005	Neither the relationship between the regulatory region polymorphism and emotional reactivity nor the association between the intron 2 VNTR polymorphism and the temperamental traits under study has been confirmed.											
135000	Y	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Fan, J. B.  et al. 2005	15940296				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Oct;10(10):928-38, 891	Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophrenia.		182138	13958	2	2005												
134995		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Diseases in Twins|Anxiety Disorders|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Kendler, K. S.  et al. 2005	15867106				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2005 May;62(5):529-35	The interaction of stressful life events and a serotonin transporter polymorphism in the prediction of episodes of major depression: areplication		182138	13953	2	2005	 Variation at the 5-HTT moderates the sensitivity of individuals to the depressogenic effects of SLEs largely by producing, in SS individuals, an increased sensitivity to the impact of mild stressors. Replication of these intriguing results is needed.	Cohort 549 male and female twins with a mean age at participation of 34.9 years (SD 9.1) 										
134996		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Taylor, W. D.  et al. 2005	15867107			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2005 May;62(5):537-44	Influence of serotonin transporter promoter region polymorphisms on hippocampal volumes in late-life depression		182138	13954	2	2005	 Subjects with late-onset depression who were homozygous for the L allele exhibited smaller hippocampal volumes than other groups. Genotype also mediated the effect of age of onset on hippocampal volumes. Our findings differ from previous work; however, we examined an older and larger cohort of subjects than previous studies. Possible explanations for these findings include interactions between the serotonergic system and neurotrophic factors or cortisol response to stresses, each of which may affect hippocampal volumes.	Case:72/63 subjects with early-onset depression (n=72) and subjects with late-onset depression (n=63);Control:83 healthy control subjects										
134997	Y	sleep disorders	UNKNOWN	UNK	Sleep Apnea, Obstructive	17	17q11.1-q12	SLC6A4	25549031	25586831		Ylmaz, M.  et al. 2005	15867649				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The Laryngoscope. 2005 May;115(5):832-6	Association of Serotonin Transporter Gene Polymorphism with Obstructive Sleep Apnea Syndrome		182138	13955	2	2005	 STG polymorphism appears to be associated with the occurrence of OSAS, especially in male patients. Absence of association of between genetic variants and polysomnography findings may suggest that some mechanisms other than STG polymorphism are involved in OSAS pathophysiology. Our results need confirmation in a larger group of patients with OSAS.	Control:162 healthy volunteers;Case:27 obstructive sleep apnea syndrome cases										
134992		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cho, H. J.  et al. 2005	15824745				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Aug;10(8):771-81	Population-based and family-based studies on the serotonin transporter gene polymorphisms and bipolar disorder: a systematic review andmeta-analysis.		182138	13950	2	2005	Meta-regression showed that neither the study type (population-based vs family-based; P=0.41 for the 5-HTTLPR and P=0.91 for the intron 2 VNTR) nor the sample ethnicity (Caucasian vs non-Caucasian; P=0.35 for the 5-HTTLPR and P=0.66 for the intron 2 VNTR) significantly contributed to the heterogeneity of the meta-analyses. The observed ORs could be regarded simply as a very small but detectable effect of the 5-HTT, which has an additive effect when combined with other susceptibility loci. Alternative hypotheses on this											
134993		Alzheimer's disease; delusional disorder; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Ha, T. M.  et al. 2005	15832033				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean	Korea	CDC GDPinfo	6532	Hs.591192			Dementia and geriatric cognitive disorders. 2005 ;20(1):31-4	Evaluating associations between 5-HTTLPR polymorphism and Alzheimer's disease for Korean patients.		182138	13951	2	2005	The 5-HTTLPR polymorphism was neither associated with AD nor with delusional/aggressive symptoms of AD. It was suggested that phenotypic expression of the 5-HTTLPR polymorphism might be varied according to ethnic differences.	Control:43:controls;Case:65 Korean Alzheimer's disease patients										
134994		basal metabolism	METABOLIC	MET		17	17q11.1-q12	SLC6A4	25549031	25586831		Graff-Guerrero, A.  et al. 2005	15850737				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			NeuroImage. 2005 May;25(4):1197-204	Frontal and limbic metabolic differences in subjects selected according to genetic variation of the SLC6A4 gene polymorphism.		182138	13952	2	2005	The analysis showed an effect of interest among the three genotype groups in right anterior cingulate gyrus (ACC), left middle frontal gyrus, and left posterior cingulate gyrus (PCC). Comparison between l/l vs. s/s showed increased metabolism for l/l in left middle frontal gyrus and an increase for s/s in right ACC and left PCC. Comparison between s/s vs. s/l showed an increase for s/s in left PCC and right ACC. Increased basal metabolism in fronto-limbic structures for the s/s group may be conceived as an "overactive metabolic state" of these structures, possibly related to an increased susceptibility for developing an anxiety-depression spectrum disorder.	Cohort 71 non-psychiatric subjects previously screened for psychopathology and subsequently genotyped for SLC6A4 										
134989	Y	personality traits	PSYCH	PSY	Substance-Related Disorders|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Roiser, J. P.  et al. 2005	15741482				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of psychiatry. 2005 Mar;162(3):609-12	Association of a functional polymorphism in the serotonin transporter gene with abnormal emotional processing in ecstasy users.		182138	13947	2	2005	 Ecstasy users carrying the s allele, but not comparison subjects carrying the s allele, showed abnormal emotional processing. On the basis of a comparison with acute tryptophan depletion, the authors hypothesize that chronic Ecstasy use may cause long-term changes to the serotonin system, and that Ecstasy users carrying the s allele may be at particular risk for emotional dysfunction.	Control comparative subjects;Case ecstacy users										
134990	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Kweon, Y. S.  et al. 2005	15804387				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean	Korea	CDC GDPinfo	6532	Hs.591192			Journal of psychiatric research. 2005 Jul;39(4):371-6	Association of the serotonin transporter gene polymorphism with Korean male alcoholics.		182138	13948	2	2005	This study suggests a putative role of the 5-HTTLPR for alcoholism in the Korean population. However, a replication study with larger different ethnic samples and a refinement of the subtype of alcoholism is needed.	Case:145 Korean patients meeting the DSM-VI criteria for alcohol dependence;Control:201 healthy controls	family history									
134991		smoking behavior; personality traits	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Gerra, G.  et al. 2005	15806583			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):73-8	Association of the serotonin transporter promoter polymorphism with smoking behavior among adolescents.		182138	13949	2	2005	Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to "S" promoter polymorphism, may be associated with smoking behavior among adolescents and increased risk to develop nicotine dependence, possibly in relationship to personality traits, temperamental characteristics, and school under-achievements.	Cohort 210 Caucasian high school students (aged 14-19 years); 103 non-smokers, who have never smoked nicotine; and 107 tobacco smokers 										
134986		suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Zalsman, G.  et al. 2005	15657646			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2005 Feb;112(2):309-15	Relationships between serotonin transporter promoter polymorphism, platelet serotonin transporter binding and clinical phenotype in suicidal and non-suicidal adolescent inpatients.		182138	13944	2	2005												
134988		personality disorders; eating disorders	PSYCH	PSY	Bulimia|Impulse Control Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Steiger, H.  et al. 2005	15690467				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The International journal of eating disorders. 2005 Jan;37(1):57-60	The 5HTTLPR polymorphism, psychopathologic symptoms, and platelet [3H-] paroxetine binding in bulimic syndromes.		182138	13946	2	2005	 Our results suggest that proneness to impulsivity, affective dysregulation, and reduced central 5-HT reuptake may (in part) be codetermined by the 5HTTLPR polymorphism. However, given inconsistent 5HTTLPR expression in different populations, we speculate that we may be observing a phenotype (i.e., eating disorder)-dependent manifestation.	Cohort 59 women with bulimia spectrum syndromes 										
134983		alcoholism; suicide	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Limosin, F.  et al. 2005	15589566				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	French		CDC GDPinfo	6532	Hs.591192			Journal of psychiatric research. 2005 Mar;39(2):179-82	Male-specific association between the 5-HTTLPR S allele and suicide attempts in alcohol-dependent subjects.		182138	13941	2	2005	French Caucasian alcohol-dependent inpatients (48 men and 52 women) with and without a history of suicide attempts	Cohort 100 French Caucasian alcohol-dependent inpatients (48 men and 52 women) with and without a history of suicide attempts. 										
134984	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Feinn, R.  et al. 2005	15635638			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):79-84	Meta-analysis of the association of a functional serotonin transporter promoter polymorphism with alcohol dependence.		182138	13942	2	2005	Allelic variation at 5-HTTLPR contributes to risk for AD, with the greatest effect observed among individuals with a co-occurring clinical feature.	Control:2,325 controls from 17 published studies;Case:3,489 alcoholics from 17 published studies										
134985	Y	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	17	17q11.1-q12	SLC6A4	25549031	25586831		Marziniak, M.  et al. 2005	15642926				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neurology. 2005 Jan;64(1):157-9	A functional serotonin transporter gene polymorphism is associated with migraine with aura.		182138	13943	2	2005	This indicates that the 5-HTT may be involved in the polygenic etiology of migraine with aura.	Control:controls;Case:197:migraineurs										
134980	Y	personality disorders	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Liao, D. L.  et al. 2004	15539857			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2004 ;50(4):284-7	Possible association between serotonin transporter promoter region polymorphism and extremely violent crime in Chinese males.		182138	13937	2	2004	Our findings demonstrate that carriage of the low-activity S allele is associated with extremely violent criminal behavior in Chinese males, and suggests that the 5-HTT may be implicated in the mechanisms underlying violent behaviors.	Control:111 normal control individuals;Case:135 Chinese males who had been convicted for extremely violent crime										
134981		chronic tension-type headache	OTHER	OTH	Tension-Type Headache|Chronic Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Park, J. W.  et al. 2004	15546263				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Headache. 2004 Nov-Dec;44(10):1005-9	Serotonin transporter polymorphism and harm avoidance personality in chronic tension-type headache.		182138	13938	2	2004	 This suggests a serotonergic activity might be involved in the development of CTH and 5-HTTLPR might be one of the genetically contributing factors.	Control:100 healthy controls;Case:107 patients with chronic tension-type headache										
134982	Y	bipolar disorder; affective psychoses	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lasky-Su, J. A.  et al. 2004	15578606				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):110-5	Meta-analysis of the association between two polymorphisms in the serotonin transporter gene and affective disorders.		182138	13940	2	2004	The small but significant effects of the 44-bp insertion/deletion polymorphism for BP is consistent with being one of many genes that contributes to the multi-factorial nature of these psychiatric disorders.	Case bipolar and unipolar disorder cases from case-control studies;Control:controls										
134977	Y	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Fan, J. B.  et al. 2004	15940296				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Oct;10(10):928-38, 891	Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophrenia		182138	13934	2	2004	Our meta-analysis suggests that the STin2.12 allele of the STin2 VNTR polymorphism is likely a risk factor for schizophrenia susceptibility. Our data imply that, following completion of the International HapMap Project, a comprehensive evaluation of a set of markers that fully characterize the linkage disequilibrium relationships at the SLC6A4 gene should be tested in large well-characterized clinical samples in order to understand the role of this gene in schizophrenia susceptibility.	Case:2,177 schizophrenic cases from 12 population-based association studies;Control:2,369 controls from 12 population-based association:studies;Case:2,990 schizophrenic cases from 19 population-based association studies;Control:3,875 controls from 19 population-based association:studies										
134978	Y	serotonin	UNKNOWN	UNK		17	17q11.1-q12	SLC6A4	25549031	25586831		Smith, G. S.  et al. 2004	15354180			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2004 Dec;29(12):2226-34	Effects of Serotonin Transporter Promoter Polymorphisms on Serotonin Function		182138	13935	2	2004	These findings suggest that 5-HTTLPR is associated with an altered functional response of the serotonin system, which may represent a neurobiologic substrate for the differential response to antidepressant treatment in late life and the emergence of neuropsychiatric symptoms in NEUROLOGICALenerative disorders.	Cohort normal control subjects 	citalopram									
134979	Y	depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Murphy, G. M. = Jr et al. 2004	15520364			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2004 Nov;61(11):1163-9	Effects of the serotonin transporter gene promoter polymorphism on mirtazapine and paroxetine efficacy and adverse events in geriatric major depression.		182138	13936	2	2004	 These results support the hypothesis that the S allele of 5HTTLPR at the SLC6A4 locus is associated with a poor outcome after treatment with selective serotonin reuptake inhibitors. However, the major effect was on the tolerability of these drugs rather than efficacy. Results from mirtazapine-treated patients indicate that the effect of this polymorphism on outcome may depend on the mechanism of antidepressant action.	Cohort 246 cognitively intact patients 65 years or older with major depression 	mirtazapine paroxetine									
134974		panic disorder	PSYCH	PSY	Respiration Disorders|Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Perna, G.  et al. 2004	15274038				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Italy	CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):41-3	Lack of relationship between CO2 reactivity and serotonin transporter gene regulatory region polymorphism in panic disorder.		182138	13931	2	2004	CO(2) reactivity of patients with panic disorder seems not to be influenced by the genetic variants of the 5-HTTLPR; this finding does not support a role for the serotonin transporter in the etiopathogenesis of CO(2) reactivity in panic disorder.	Cohort 95 patients with panic disorder 										
134975		irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome	17	17q11.1-q12	SLC6A4	25549031	25586831		Wang, B. M.  et al. 2004	15312441				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Jun;43(6):439-41	[Serotonin transporter gene polymorphism in irritable bowel syndrome]		182138	13932	2	2004	 The presence of STin2.12/10 genotype may be correlated with IBS. The presence of L/L genotype and 12/12-L/L genotype association in IBS patients carries an increased risk of C-IBS, whereas the presence of the L/S genotype carries an increased risk of D-IBS and A-IBS.	Control:48 healthy subjects;Case:81 patients with irritable bowel syndrome										
134976		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Lotrich, F. E.  et al. 2004	15318024				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2004 Sep;14(3):121-9	Meta-analysis of serotonin transporter polymorphisms and affective disorders.		182138	13933	2	2004	Significant heterogeneity between studies was also evident, possibly reflecting differences in diagnosis, different control populations, and different ethnic populations. These factors should Influence the interpretation of the association found in this analysis.	Cohort 1,000+ affective disorder patients 										
134971	Y	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Eating Disorders|Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Matsushita, S.  et al. 2004	15211642				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Japan	CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):114-7	Serotonin transporter regulatory region polymorphism is associated with anorexia nervosa		182138	13928	2	2004	The 5-HTTLPR S allele might play some role in the development of AN with persistent disease.	Case:195 female Japanese eating disorder patients;Control:290 age- and gender-matched control subjects										
134972		stress; chronic disease burden	UNKNOWN	UNK	Chronic Disease|Disease Susceptibility|Stress	17	17q11.1-q12	SLC6A4	25549031	25586831		Grabe, H. J.  et al. 2004	15263905				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Feb;10(2):220-4	Mental and physical distress is modulated by a polymorphism in the 5-HT transporter gene interacting with social stressors and chronic disease burden.		182138	13929	2	2004	The results partly confirm previous findings of a significant gene-environment interaction of the short allele, indicating a higher mental vulnerability to social stressors and chronic diseases. The relevance of this finding is sustained by the fact that the sample characteristics and the risk structure were highly different from previous studies.	Cohort 1,005 subjects from a general population sample (Study of Health in Pomerania) 										
134973		insulin; smoking behavior; obesity, localized; memory disturbance; longevity	METABOLIC	MET	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831			15272632				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2004 ;104(5):46-9	[Serotonin transporter gene polymorphism and factors influencing mental and physical health in aging]		182138	13930	2	2004	The results obtained are in line with current concepts of serotonin role in smoking, obesity and cognitive functioning.	Cohort 196 elderly Russians (mean age 76.2+/-5.3 years, 155 men, 41 women) Moscow 										
134968		personality disorders	PSYCH	PSY	Phobic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Furmark, T.  et al. 2004	15158011				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2004 May;362(3):189-92	Serotonin transporter polymorphism related to amygdala excitability and symptom severity in patients with social phobia		182138	13925	2	2004	Thus, 5-HTT genetic variation was associated with symptom severity and amygdala excitability in social phobia.	Cohort 17 patients with social phobia 										
134969		depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Lee, M. S.  et al. 2004	15167699			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2004 Jun;14(2):111-5	Serotonin transporter promoter gene polymorphism and long-term outcome of antidepressant treatment		182138	13926	2	2004	 These findings show that patients with major depressive disorder possessing the 5-HTTLPR l allele may exhibit a better long-term outcome when treated with antidepressants.	Cohort 128 patients with major depressive disorder 	antidepressants									
134970	Y	personality disorders	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Personality Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Retz, W.  et al. 2004	15211560			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Behavioral sciences & the law. 2004 ;22(3):415-25	Association of serotonin transporter promoter gene polymorphism with violence: relation withpersonality disorders, impulsivity, and childhood ADHD psychopathology		182138	13927	2	2004	In conclusion, the results (i) suggest an association between serotonergic dysfunction and violent behavior, (ii) provide evidence for an-at least partial-genetic regulation of violent behavior in a subgroup of male offenders, and (iii) suggest a significant role for 5-HT transporter functionality for violent behavior.	Cohort 153 male Caucasians referred for a forensic psychiatric examination 										
134965	N	personality disorders	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Lang, U. E.  et al. 2004	15118354			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2004 ;49(4):182-4	No association of a functional polymorphism in the serotonin transporter gene promoter and anxiety-related personality traits.		182138	13922	2	2004	Given the small effect of this 5-HTT polymorphism on behaviour in previous studies, a lack of significant genotype differences in these tests could be due to considerable individual variability in these measures.	Cohort 228 healthy unrelated participants (age 38.6 +/- 12.8 years; 115 male, 113 female) of German origin, who were carefully examined with respect to psychiatric health 										
134966	Y	suicide	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lin, P. Y.  et al. 2004	15121487			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2004 May;55(10):1023-30	Association between serotonin transporter gene promoter polymorphism and suicide: results of ameta-analysis.		182138	13923	2	2004	 Our results provide significant evidence supporting the association of the s allele of 5-HTTLPR polymorphism with suicidal behavior in the psychiatric population, also with violent suicide. These support a role for decreased serotonin transporter function in the vulnerability to suicide in a select population.											
134962		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Golimbet, V. E.  et al. 2004	15048639				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):7-Jan	Serotonin transporter polymorphism and depressive-related symptoms in schizophrenia		182138	13919	2	2004	Our finding may contribute to understanding of molecular genetic features underlying an appearance of psychopathological symptoms emerged in schizophrenia.	Cohort 260 patients with an ICD-10 diagnosis of schizophrenia 										
134963		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Patkar, A. A.  et al. 2004	15091312				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African American		CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2004 Mar;14(1):25-32	Relationship between serotonin transporter gene polymorphisms and platelet serotonin transporter sites among African-American cocaine-dependent individuals and healthy volunteers.		182138	13920	2	2004	Although platelet 5-HTT densities are reduced in patients with cocaine dependence compared with healthy volunteers, these genotypic variations in the serotonin transporter do not seem to influence levels of platelet 5-HTT in cocaine-dependent patients or healthy volunteers.	Case:138 cocaine-dependent African-American subjects;Control:60 African-American controls										
134964	Y	personality disorders	PSYCH	PSY	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Sen, S.  et al. 2004	15108187			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):85-9	Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits.		182138	13921	2	2004	We conclude that  there is a strong association between the serotonin transporter promoter variant and neuroticism as measured in the NEO personality inventory and that non-replications are largely due to small sample size and the use of different inventories.	Cohort 5,629 subjects 										
134959	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Frodl, T.  et al. 2004	14757594				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2004 Feb;61(2):177-83	Reduced hippocampal volumes associated with the long variant of the serotonin transporter polymorphism in major depression.		182138	13916	2	2004	 These findings suggest that homozygosity for the L allele is associated with decreased hippocampal volumes in patients with major depression but not in healthy controls. A possible explanation is that the interaction between the serotonergic system and neurotrophic factors as well as excitatory amino acid neurotransmission may affect hippocampal morphologic characteristics.	Control:40 healthy controls matched for age, sex, and:handedness;Case:40 inpatients with major depression										
134960		anxiety disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Schinka, J. A.  et al. 2004	14966478				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2004 Feb;9(2):197-202	A meta-analysis of the association between the serotonin transporter gene polymorphism (5-HTTLPR) and trait anxiety		182138	13917	2	2004	Our results suggest that the success of future personality genetics research will be maximized by the use of personality measures from both the psychobiological and five-factor models.											
134961	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Personality Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Wiesbeck, G. A.  et al. 2004	15048635				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2004 Jan;5(1):45-8	Serotonin transporter gene polymorphism and personality traits in primary alcohol dependence		182138	13918	2	2004	This gives support to the hypothesis that the TCI temperament Harm Avoidance is associated with serotonergic neurotransmission in primary alcohol dependence.	Cohort 124 subjects seeking inpatient treatment for primary alcohol dependence 										
134956		bulimia	PSYCH	PSY	Bulimia	17	17q11.1-q12	SLC6A4	25549031	25586831		Lauzurica, N.  et al. 2003	14625025			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2003 Dec;352(3):226-30	Polymorphisms within the promoter and the intron 2 of the serotonin transporter gene in a population of bulimic patients		182138	13913	2	2003	In our sample of normal-eater controls and purging type bulimics, regardless of whether or not the BN patients had suffered prior AN episodes, no differences were found considering the frequencies of genotypes, alleles or haplotypes of both polymorphic regions of the 5-HTT gene.	Cohort 102 purgative bulimic female patients 										
134957		affective psychoses	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Mendlewicz, J.  et al. 2004	14735161				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European journal of human genetics. 2004 May;12(5):377-82	Serotonin transporter 5HTTLPR polymorphism and affective disorders: no evidence of association ina large European multicenter study		182138	13914	2	2004	Our negative findings are not attributable to the lack of statistical power, and may contribute to clarify the role of 5-HTTLPR polymorphism in AD.	Case:539/572 unipolar (n=539) and bipolar (n=572) patients;Control:821:CONTROLS										
134958		irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome	17	17q11.1-q12	SLC6A4	25549031	25586831		Lee, D. Y.  et al. 2004	14745247				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The Korean journal of gastroenterology. 2004 Jan;43(1):18-22	[Serotonin transporter gene polymorphism in healthy adults and patients with irritable bowel syndrome]		182138	13915	2	2004	 There was no relationship between serotonin transporter gene polymorphism and IBS. However, allele S/S genotype was most prominent genotype in both controls and patients.	Case:33 patients with irritable bowel syndrome;Control:56 healthy controls										
134953	Y	affective disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major|Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Willeit, M.  et al. 2003	14593433			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2003 Nov;8(11):942-6	A polymorphism (5-HTTLPR) in the serotonin transporter promoter gene is associated with DSM-IV depression subtypes in seasonal affective disorder.		182138	13910	2	2003	Our data are compatible with the hypothesis of a disease process that is not causally related to 5-HTTLPR, but involves 5-HT neurotransmission and 5-HTTLPR somewhere on its way to phenotypic disease expression.	Case:138 seaseonal affective disorder patients;Control:146 healthy volunteers with low seaseonality										
134954	Y	depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Joiner, T. E.  et al. 2003	14612228				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of affective disorders. 2003 Dec;77(3):273-5	Is there an association between serotonin transporter gene polymorphism and family history of depression?		182138	13911	2	2003	 A significant relationship between family history of depression and the s/s genotype was found, despite the small sample size and while controlling for family history of suicide. Whatever risk short alleles may confer for depression may be distinct from the risk they confer for suicidality.	Cohort 47 volunteers respondingd to questionnaires regarding family history of depression and suicide 										
134955		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Arias, B.  et al. 2003	14624186				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of clinical psychopharmacology. 2003 Dec;23(6):563-7	5-HTTLPR polymorphism of the serotonin transporter gene predicts non-remission in major depression patients treated with citalopram in a 12-weeks follow up study.		182138	13912	2	2003	In conclusion, our results show that genetic variation of serotonin transporter is involved in clinical remission of major depressive episodes after twelve weeks of citalopram treatment.	Cohort 131 Spanish patients with major depressive disorder treated with citalopram 	citalopram									
134950		depressive disorder, major	OTHER	OTH	Psychomotor Agitation|Sleep Initiation and Maintenance Disorders|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Perlis, R. H.  et al. 2003	14573314				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2003 Nov;54(9):879-83	Serotonin transporter polymorphisms and adverse effects with fluoxetine treatment.		182138	13907	2	2003	 The S allele of the 5HTTLPR may identify patients at risk for developing insomnia or agitation with fluoxetine treatment. This preliminary result requires confirmation in larger samples.	Cohort 36 outpatients with major depressive disorder 	fluoxetine									
134951		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Hranilovic, D.  et al. 2003	14573315			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Croatia	CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2003 Nov;54(9):884-9	Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphisms in Croatian suicide victims.		182138	13908	2	2003	 Our results provide modest evidence for a possible association of the 5HT transporter gene with a completed suicide. Further studies are needed to determine whether alterations in 5HTt gene expression are involved in suicidal behavior.	Case:135 suicide victims of Croatian/southern Slavic origin;Control:299 healthy control subjects										
134952	Y	chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Narita, M.  et al. 2003	14592408				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biochemical and biophysical research communications. 2003 Nov;311(2):264-6	Association between serotonin transporter gene polymorphism and chronic fatigue syndrome.		182138	13909	2	2003	Attenuated concentration of extracellular serotonin due to longer variants may cause higher susceptibility to CFS.	Control:controls;Case:78 chronic fatigue syndrome patients										
134947	Y	depressive disorder, major; alcoholism	PSYCH	PSY	Alcoholism|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Nellissery, M.  et al. 2003	14506400			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2003 Sep;27(9):1402-8	Alleles of a functional serotonin transporter promoter polymorphism are associated with major depression in alcoholics.		182138	13904	2	2003	 With respect to the frequency of the short allele at the SLC6A4 locus (5-HTTLPR), major depression in alcoholics is similar to major depression in nonalcoholics. Further efforts to characterize depressed alcoholics and to examine genetic predictors of response to antidepressant treatment seem warranted.	Control:260/43 European American (n=260) and African American:(n=43) controls;Case:296/16 European American (n=296) and African American (n=16) patients with comorbid alcohol dependence and major depression										
134948		depression	PSYCH	PSY	Sleep Deprivation|Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Benedetti, F.  et al. 2003	14512208			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2003 Oct;54(7):687-92	Antidepressant effects of light therapy combined with sleep deprivation are influenced by a functional polymorphism within the promoter of the serotonin transporter gene.		182138	13905	2	2003	 The influence of 5-HTTLPR on response to the combination of TSD and light therapy is similar to that observed on response to TSD and serotonergic drug treatments.	Cohort 22 bipolar depressed inpatients 	light therapy sleep/rest									
134949	Y	chronic obstructive pulmonary disease/COPD	OTHER	OTH	Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Hyperplasia|Anoxia|Anoxemia	17	17q11.1-q12	SLC6A4	25549031	25586831		Eddahibi, S.  et al. 2003	14530202				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Circulation. 2003 Oct;108(15):1839-44	Polymorphism of the Serotonin Transporter Gene and Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease		182138	13906	2	2003	 5-HTT gene polymorphism appears to determine the severity of PH in hypoxemic patients with COPD. Because PH is an important prognostic factor in this disease, recognition of patients at risk for PH should be helpful in managing COPD.	Case:103 patients with COPD recruited in France (n=67) and the UK (n=36):France, UK;Control:98 subjects from the 2 countries										
134944		alcohol abuse	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Herman, A. I.  et al. 2003	12915525			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDPinfo	6532	Hs.591192			Alcohol and alcoholism (Oxford, Oxfordshire). 2003 Sep-Oct;38(5):446-9	SEROTONIN TRANSPORTER PROMOTER POLYMORPHISM AND DIFFERENCES IN ALCOHOL CONSUMPTION BEHAVIOUR IN A COLLEGE STUDENT POPULATION		182138	13901	2	2003	 In this Caucasian sample, the 5-HTTLPR strongly influences alcohol consumption in late pubescence.	Cohort 204 Caucasian individuals in a subset of 268 college students 										
134945	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Durham, L. K.  et al. 2003	12955294				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2004 Aug;174(4):525-9	The serotonin transporter polymorphism, 5HTTLPR, is associated with a faster response time to sertraline in an elderly population with major depressive disorder.		182138	13902	2	2003	 These results suggest that genetic variation in the serotonin transporter gene effects the response time to sertraline and provides complementing evidence to previous reports that this polymorphism affects response time to other SSRIs.	Cohort 206 elderly depressed subjects 	sertraline									
134946		migraine	NEUROLOGICAL	NEUR	Migraine Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Juhasz, G.  et al. 2003	12962916				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2003 Oct;350(1):56-60	Despite the general correlation of the serotonin transporter gene regulatory region polymorphism (5-HTTLPR) and platelet serotonin concentration, lower platelet serotonin concentration in migraine patients is independent of the 5-HTTLPR variants.		182138	13903	2	2003	In conclusion, 5-HTTLPR variants may have an effect on the platelet 5-HT concentrations, but the lower 5-HT concentrations in migraine patients seem to be determined by other factors.	Control:42 healthy controls;Case:64 female migraine patients without aura										
134941		depressive disorder, major; bipolar disorder	PSYCH	PSY	Sleep Deprivation|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Baghai, T. C.  et al. 2003	12872203				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2003 Jul;4(3):111-4	No Influence of a functional polymorphism within the serotonin transporter gene on partial sleep deprivation in major depression.		182138	13898	2	2003	Thus, the previously reported influence of the serotonin transporter gene on PSD outcome in bipolar depression could not be confirmed in unipolar depressed patients.	Cohort 56 patients with major depression 	sleep deprivation									
134942		depressive disorder, major; bipolar disorder; suicide	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Yen, F. C.  et al. 2003	12886033				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2003 ;48(1):9-May	Association study of serotonin transporter gene VNTR polymorphism and mood disorders, onset age and suicide attempts in a Chinese sample.		182138	13899	2	2003	These negative findings suggest that 5-HTTVNTR does not play a major role in the pathogenesis of mood disorder in Chinese populations.	Control:169:controls;Case:83/77 Chinese bipolar disorder patients (n=83) and major depressive disorder patients (n=77)										
134943		impulse control disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Sakado, K.  et al. 2003	12898578				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):71-5	A psychometrically derived impulsive trait related to a polymorphism in the serotonin transporter gene-linked polymorphic region (5-HTTLPR) in a Japanese nonclinical population: assessment by theBarratt impulsiveness scale (BIS).		182138	13900	2	2003	These findings suggest that individuals with a homozygous S-allele may be more impulsive than those with the other genotype.	Cohort 123 employed Japanese male adults Japan 										
134938		bipolar disorder; affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Hauser, J.  et al. 2003	12763299				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European psychiatry. 2003 May;18(3):129-32	Association analysis of the insertion/deletion polymorphism in serotonin transporter gene in patients with affective disorder		182138	13895	2	2003	We suggest that the presence of allele s may increase the susceptibility to occurrence of affective disorder.	Control:213 healthy subjects;Case:226 patients with affective disorders (n = 132 for bipolar, n = 94 for unipolar affective disorder)										
134939	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Langley, K.  et al. 2003	12782968				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2003 Jun;13(2):107-10	No evidence of association of two 5HT transporter gene polymorphisms and attention deficit hyperactivity disorder.		182138	13896	2	2003	 Failure to replicate findings from previous studies may be due to a lack of statistical power. However, given recent findings by Kent et al. (2002) of association with another polymorphism in the 5HTT gene, we hypothesise that previous positive findings may have arisen by the LPR and VNTR being in linkage disequilibrium with the true susceptibility polymorphism.	Control:121:controls;Case:150 children who met diagnostic criteria for ADHD										
134940		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Pae, C. U.  et al. 2003	12824740				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2003 ;47(4):182-6	Polymorphism of the serotonin transporter gene and symptomatic dimensions of schizophrenia in the Korean population.		182138	13897	2	2003	These results suggest that 5-HTTLPR may contribute to the susceptibility to the symptomatology of schizophrenia but not to the development of the disorder itself, at least in the Korean population.	Case:111 patients with schizophrenia:Korea;Control:208 healthy individuals										
134935		personality traits; illegal drug use	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Lotrich, F.  et al. 2003	12749731			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African Americans		CDC GDPinfo	6532	Hs.591192			American journal of pharmacogenomics. 2003 ;3(2):145-7	Serotonin transporter promoter polymorphism in african americans : allele frequencies andimplications for treatment		182138	13892	2	2003	 Given the potential influence on treatment response, these findings have implications for the use of SSRIs in this population. The results suggest that additional studies to examine the impact of these alleles on treatment response in African-Americans are warranted.	Cohort 865 black Americans and Afro-Caribbeans from South Carolina (n = 489), western Pennsylvania (n = 207), and Tobago (n = 169) 										
134936	Y	impulse control disorder	PSYCH	PSY	Impulse Control Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lee, J. H.  et al. 2003	12759157			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2003 May;118(1):19-24	Possible association between serotonin transporter promoter region polymorphism and impulsivity in Koreans		182138	13893	2	2003	From our results, this 5-HTTLPR polymorphism appears to be a possible candidate gene for impulsivity in the Korean population.	Cohort 186/64 adolescent prisoners (n=186) and medical students 										
134937		schizoid traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831			12760255				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genetika. 2003 Apr;39(4):534-9	[Gene insertion and deletion polymorphism in the serotonin transporter gene and personality traits measured by MMPI]		182138	13894	2	2003	These results suggest that polymorphism of the serotonin transporter gene may be associated with the expression of schizoid traits (namely, social introversion, internal tension, weird thoughts and actions) in mentally healthy individuals. In the context of social adaptation, the personality profile configuration and data of statistical analysis indicate that the carriers of the ss genotype are more inclined to observe social norms than the carriers of the ll and ls genotypes.	Cohort 125 mentally healthy donors 										
134932		attention deficit disorder; conduct disorder; aggressive behavior	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity|Conduct Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cadoret, R. J.  et al. 2003	12658617			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Comprehensive psychiatry. 2003 Mar-Apr;44(2):88-101	Associations of the serotonin transporter promoter polymorphism with aggressivity, attention deficit, and conduct disorder in an adoptee population.		182138	13889	2	2003	The results support the hypothesis that gene-biological family history interactions are involved in the externalizing behaviors studied and constitute interesting findings for future replication.	Cohort 87 adoptees 										
134934		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rousseva, A.  et al. 2003	12746735				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2003 ;3(2):101-4	Antidepressant-induced mania, rapid cycling and the serotonin transporter gene polymorphism.		182138	13891	2	2003	These results may help to explain the conflicting association results obtained with the 5-HTT gene polymorphism, in particular with AIM. Indeed, the precise phenotype associated with the 5-HTT gene is unclear. The association between the 's' allele and rapid cycling may provide further evidence for an association between the 5-HTTLPR 's' allele and a pattern of affective instability.	Cohort 305 patients with bipolar affective disorder 										
134929		dysphoria, premenstrual	OTHER	OTH	Premenstrual Syndrome	17	17q11.1-q12	SLC6A4	25549031	25586831		Melke, J.  et al. 2003	12573307				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychoneuroendocrinology. 2003 Apr;28(3):446-58	Serotonin transporter gene polymorphisms and platelet [3H] paroxetine binding in premenstrual dysphoria.		182138	13886	2	2003	The results support the assumption that serotonin-related psychiatric disorders-such as premenstrual dysphoria-may be associated with a reduction in platelet [(3)H]paroxetine binding, but argue against the notion that this reduction is due to certain variants of the serotonin transporter gene being more common in patients than in controls.	Case women with premenstrual dysphoria;Control:controls										
134930		psychoses	PSYCH	PSY	Schizoid Personality Disorder|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Golimbet, V. E.  et al. 2003	12582974				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2003 Jan;4(1):25-9	Serotonin transporter gene polymorphism and schizoid personality traits in the patients with psychosis and psychiatrically well subjects		182138	13887	2	2003	 we demonstrated that functional deletion/insertion allelic variation associated with decreased expression of serotonin transporter ('s' allele or 'ss' genotype) may restrict expression of schizoid traits in normal subjects and patients with affective disorders.	Case:114/110 patients with affective disorders (n=114), patients with schizophrenia spectrum illnesses (n=110);Control:124 psychiatrically well controls										
134931	Y	loudness dependence	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Gallinat, J.  et al. 2003	12629533			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychopharmacology. 2003 Mar;28(3):530-2	Allelic variants of the functional promoter polymorphism of the human serotonin transporter gene is associated with auditory cortical stimulus processing.		182138	13888	2	2003	The LD may serve as endophenotype in human serotonin research.	Cohort 185 healthy subjects 										
134926	N	suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Courtet, P.  et al. 2003	12497618			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):72-6	No association between non-violent suicidal behavior and the serotonin transporter promoter polymorphism.		182138	13882	2	2003	The frequeYcies of the S allele aYd the SS geYotype iY the sample who attempted YoY-violeYt suicide were Yot statistically differeYt to those iY the coYtrols. Thus, the geYetically altered expressioY of the 5-HT traYsporter might be associated with more severe or violeYt suicidal behavior, but Yot with YoY-violeYt suicidal behavior.	Control:139 controls with no history of suicidal behavior of the same ethnic origin;Case:166 West European Caucasians who attempted suicide by a non-violent mean										
134927	N	personality disorders; neuroticism	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Umekage, T.  et al. 2003	12524160			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2003 Jan;337(1):13-6	Serotonin transporter-linked promoter region polymorphism and personality traits in a Japanese population.		182138	13883	2	2003	Thus, our findings provided no evidence for an association between the 5-HTTLPR polymorphism and anxiety-related or other personality traits.	Cohort 224 Japanese healthy subjects (female n=190) 										
134928	Y	psychosis, alcoholic	PSYCH	PSY	Psychoses, Alcoholic|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Gorbunova, E. V.  et al. 2002	12534269				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Russian		CDC GDPinfo	6532	Hs.591192			Molekuliarnaia genetika, mikrobiologiia i virusologiia. 2002 ;(4):35-8	[Analysis of insertion-deletion polymorphism in serotonin transporter gene in men of different ethnic appurtenance with acute alcoholic psychosis]		182138	13884	2	2002	A relationship of L/S gene with the disease was detected in Russians and Tatars, but the presence of heterozygotic genotype was associated with early onset of chronic alcoholization and development of acute alcoholic psychosis in Tatars and with later alcoholization and disease development in Russians. The share of S/S genotype was significantly decreased in Russian patients aged over 35 years, which suggests selection aimed at elimination of short allele homozygotes among patients with this disease and probably different genetic prerequisites for early and late development of the disease in Russians. In Tatars aged over 35 years acute alcoholic psychosis is associated with L/L genotype.	Cohort Russian and Tatar men with acute alcoholic psychosis 										
134923	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Sato, K.  et al. 2002	12422060	(C267T)		promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2002 ;46(3):136-40	Association between -1438G/A promoter polymorphism in the 5-HT(2A) receptor gene and fluvoxamine response in Japanese patients with major depressive disorder.		182138	13879	2	2002	The results demonstrated that the -1438G/A promoter polymorphism in the 5-HT(2A) receptor gene was unlikely to have a major role in therapeutic response to fluvoxamine in Japanese patients with major depressive disorder.	Cohort 66 Japanese patients with major depressive disorder 	fluvoxamine									
134924	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Bellivier, F.  et al. 2002	12431765				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2002 Dec;334(1):17-20	Serotonin transporter gene polymorphism influences age at onset in patients with bipolar affective disorder		182138	13880	2	2002	Differential sampling procedures may influence the proportion of AAO subgroups in a given association study, and therefore these results may explain the conflicting results obtained in studies of the association between the SLC6A4 gene polymorphism and bipolar affective disorder (BPAD).	Cohort a sample of bipolar patients 										
134925	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Yu, Y. W.  et al. 2002	12476327			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(10):1115-9	Association study of the serotonin transporter promoter polymorphism and symptomatology and antidepressant response in major depressive disorders.		182138	13881	2	2002	Our findings confirm reports that the l allele is associated with better SSRI response.	Cohort 121 Chinese patients diagnosed with major depression 	fluoxetine									
134920	Y	suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Joiner, T. E. = Jr et al. 2002	12374478				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Suicide & life-threatening behavior. 2002 ;32(3):329-32	Association between serotonin transporter gene polymorphism and family history of attempted and completed suicide		182138	13876	2	2002	These data, to be interpreted with the study's limitations in mind, suggest a link between the serotonin transporter gene polymorphism and suicide-related variables, which should be the focus of future research.	Cohort 47 volunteers responding to questionnaries about family history of suicide 										
134921		depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Chen, T. J.  et al. 2002	12378120			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2002 ;46(2):57-60	Association Analysis for Serotonin Transporter Promoter Polymorphism and Auditory Evoked Potentials for Major Depression		182138	13877	2	2002	Our findings suggest a relationship between the 5-HTTLPR polymorphism and AEP P2 latency, and further studies of other genetic polymorphisms in the serotonergic system may help to predict this latency.	Cohort 127 										
134922		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Recurrence	17	17q11.1-q12	SLC6A4	25549031	25586831		Kotani, K.  et al. 2002	12390616				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Headache. 2002 Oct;42(9):893-5	A polymorphism in the serotonin transporter gene regulatory region and frequency of migraine attacks		182138	13878	2	2002	 This polymorphism does not appear to be involved in a genetic predisposition to the disease but may affect the frequency of attacks in patients with migraine. These findings may contribute to our understanding of factors that influence the clinical severity of migraine.	Case:151 patients with migraine;Control:190 healthy unrelated controls										
134917	N	cocaine dependence/abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Patkar, A. A.  et al. 2002	12218660				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African American	Pennsylvania	CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2002 Sep;12(3):161-4	No association between polymorphisms in the serotonin transporter gene and susceptibility to cocaine dependence among African-American individuals.		182138	13873	2	2002	Our findings do not seem to support a relationship between VNTR polymorphisms and cocaine dependence among African-American patients. Further studies involving larger samples are required to confirm our results.	Case:156 cocaine-dependent subjects;Control:82:controls										
134918		harm avoidance	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai, S. J.  et al. 2002	12218661				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2002 Sep;12(3):165-8	Serotonin transporter genetic polymorphisms and harm avoidance in the Chinese.		182138	13874	2	2002	Our findings suggest that the 5HTT genetic polymorphism may be associated with HA scores; however, the effect is influenced by ethnicity and gender.	Cohort 192 192 healthy Han Chinese China 										
134919		alcoholism	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Kranzler, H.  et al. 2002	12351926			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Alcoholism, clinical and experimental research. 2002 Sep;26(9):1330-5	Association study of alcoholism subtypes with a functional promoter polymorphism in the serotonin transporter protein gene.		182138	13875	2	2002	 Variable findings in the literature in relation to the association of 5'-HTTLPR alleles to alcohol dependence seem to be due to factors other than the composition of study samples in terms of univariate typologies based on sex, comorbid drug dependence, or age of onset of alcohol dependence.	Control:235 control subjects (192 EAs and 43 Aas);Case:471 alcohol-dependent subjects [363 European Americans (EAs) and 108 African Americans (AAs)]										
134914		irritable bowel syndrome	IMMUNE	IMM	Colonic Diseases, Functional	17	17q11.1-q12	SLC6A4	25549031	25586831		Pata, C.  et al. 2002	12135035				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The American journal of gastroenterology. 2002 Jul;97(7):1780-4	Serotonin transporter gene polymorphism in irritable bowel syndrome.		182138	13870	2	2002	 No relationship was found between IBS and SERT gene polymorphism. It is conceivable that the presence of the S/S genotype in IBS patients carries an increased risk of the constipation predominant type of IBS, whereas the presence of the 5-HTTLPR allele L/S genotype carries an increased risk of the diarrhea predominant type.	Case:54 patients dianosed with irritable bowel syndrome;Control:91 healthy subjects										
134915	Y	eating disorder	PSYCH	PSY	Eating Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Matsushita, S.  et al. 2002	12140775				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(6):538-40	Association of serotonin transporter regulatory region polymorphism and abnormal eating behaviors.		182138	13871	2	2002	This study of a non-clinical sample showed significantly higher L allele frequencies in subjects who might have abnormal eating behaviors.	Control:153 individuals not considered to have abnormal eating:patterns;Case:26 individuals of 179 completeing a questionnaire considered to have abnormal eating patterns:Japan										
134916		irritable bowel syndrome	IMMUNE	IMM	Colonic Diseases, Functional|Diarrhea	17	17q11.1-q12	SLC6A4	25549031	25586831		Camilleri, M.  et al. 2002	12145795				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Gastroenterology. 2002 Aug;123(2):425-32	Serotonin-transporter polymorphism pharmacogenetics in diarrhea-predominant irritable bowel syndrome.		182138	13872	2	2002	 Genetic polymorphisms at the SERT promoter influence response to a 5-HT(3) antagonist in D-IBS and may influence benefit-risk ratio with this class of compounds.	Cohort 30 patients (15 men, 15 women) with diarrhea-predominant irritable bowel syndrome 	alosetron									
134911	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Neumeister, A.  et al. 2002	12090814			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of general psychiatry. 2002 Jul;59(7):613-20	Association between serotonin transporter gene promoter polymorphism (5HTTLPR) and behavioral responses to tryptophan depletion in healthy women with and without family history of depression.		182138	13867	2	2002	 The results of the present study suggest that the s-allele of the 5HTTLPR and a positive family history of depression are additive risk factors for the development of depression during TD.	Cohort 24/21 healthy women with a negative family history of depression (n=24) and women with a positive history of depression (n=21) 	tryptophan depletion									
134912		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Zoroglu, S. S.  et al. 2002	12097805				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2002 ;45(4):176-81	Significance of serotonin transporter gene 5-HTTLPR and variable number of tandem repeat polymorphism in attention deficit hyperactivity disorder.		182138	13868	2	2002	The lack of an S/S variant of 5-HTTLPR polymorphism of the STin2.12/12 variant of VNTR polymorphism appears to be associated with an increased risk of ADHD.	Control:128 healthy controls;Case:71 Turkish children with ADHD										
134913	Y	fibromyalgia	OTHER	OTH	Fibromyalgia	17	17q11.1-q12	SLC6A4	25549031	25586831		Gursoy, S.   2002	12111622				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Clinical rheumatology. 2002 Jun;21(3):194-7	Absence of association of the serotonin transporter gene polymorphism with the mentally healthy subset of fibromyalgia patients.		182138	13869	2	2002	We concluded that neither 5-HTT nor its polymorphism is associated with FS. Our results also address the frequencies of 5-HTT gene alleles in our population. Further studies are required to better understand the genetic basis of FS.	Case:53 mentally healthy fibromyalgia patients;Control:60 unrelated heatlhy volunteers										
134908	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Fumeron, F.  et al. 2002	12081984				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Circulation. 2002 Jun;105(25):2943-5	Serotonin transporter gene polymorphism and myocardial infarction: Etude Cas-T????moins del'Infarctus du Myocarde (ECTIM).		182138	13864	2	2002	 The LL genotype of the SLC6A4 polymorphism is associated with a higher risk of MI. This could be attributable to the effect of the polymorphism on serotonin-mediated platelet activation or smooth muscle cell proliferation or on other risk factors, such as depression or response to stress.	Case:671 male patients with myocardial infarction from the Etude Cas-Temoins de l'Infarctus du Myocarde (ECTIM) multicentric study.;Control:688 controls from the Etude Cas-Temoins de l'Infarctus du Myocarde (ECTIM) multicentric study.										
134909		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Di Bella, D.  et al. 2002	12082589				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The pharmacogenomics journal. 2002 ;2(3):176-81	Obsessive-Compulsive Disorder, 5-HTTLPR polymorphism and treatment response.		182138	13865	2	2002	No differences in fluvoxamine response in the three genotypes groups in OCD were found, considering Yale-Brown Obsessive Compulsive Scale (YBOCS) total scores. Nevertheless, a significant time per genotype interaction was found for the YBOCS subtotal compulsion scores. Considering patients without tic disorder co-diagnosis, a significant time per genotype interaction for both YBOCS total scores and compulsion scores was found	Case:181 obsessive compulsive disorder patients; 92 patients underwent a standardized treatment with fluvoxamine;Control:191:controls	fluvoxamine									
134910		schizophrenia; alcoholism; attention deficit disorder; depression; neuroticism; affective disorder; suicidal behavior	PSYCH	PSY	Alzheimer Disease|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lotrich, F. E.  et al. 2001	12083964				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of pharmacogenomics. 2001 ;1(3):153-64	Polymorphism of the serotonin transporter:implications for the use of selective serotonin reuptake inhibitors.		182138	13866	2	2001	Review article		antidepressants									
134905		schizophrenia	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Gorbunova, E. V.  et al. 2002	12018177				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genetika. 2002 Apr;38(4):571-4	[A study of the insertion-deletion polymorphism of the serotonin transporter gene in populations from the Volga-Ural region]		182138	13861	2	2002	Depending on population ethnicity, specific trends were revealed in the pattern of frequencies of alleles and genotypes of gene SLC6A4.	Cohort eight populations from the Volga-Ural region (the Bashkir, Chuvash, Tatar, Udmurt, Mari, Mordovian, and Komi populations and the population of Russians living in the Arkhangel's skii raion of Bashkortostan) 										
134906		aggression; impusivity; sensation seeking	UNKNOWN	UNK	Cocaine-Related Disorders|Impulse Control Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Patkar, A. A.  et al. 2002	12057823				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African American		CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2002 Jun;110(2):103-15	Serotonin transporter polymorphisms and measures of impulsivity, aggression, and sensation seeking among African-American cocaine-dependent individuals.		182138	13862	2	2002	The findings do not seem to support an association between these polymorphisms in the 5HTT gene and impulsive-aggressive traits among cocaine-dependent African-American individuals.	Case:105 severely affected cocaine-dependent African-American subjects;Control:44 African-American controls										
134907		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Golimbet, V. E.  et al. 2002	12068552				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genetika. 2002 May;38(5):671-7	[Allele polymorphism of the serotonin transporter gene and clinical heterogeneity of depressive disorders]		182138	13863	2	2002	Thus, the 5-HTT gene polymorphisms do not affect the risk of depression but is possibly associated with specific clinical signs of the disease, at least in elderly patients.	Cohort 77/74 patients (mean age 61.2 8.8 years) with late-onset depression (n=77, mean age at onset 56.58 9.7 years) and patients (mean age 31.0 11.8 years) with early-onset depression (n=74, mean age at onset 23.9 7.4 years) 										
134902		eating disorders	PSYCH	PSY	Obesity|Bulimia|Eating Disorders|Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Ricca, V.  et al. 2002	11950504				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2002 Apr;323(2):105-8	5-HT2A receptor gene polymorphism and eating disorders.		182138	13858	2	2002	No significant differences were found between obese BED and obese non-BED individuals, suggesting that this polymorphism does not genetically distinguish these two phenotypes. Moreover, the evaluation of 148 patients with anorexia nervosa and 86 patients with bulimia nervosa revealed an association of the A allele with both these disorders.	Control:132 obese non-Binge eating disorders subjecst;Case:54/148/86 Italian patients with Binge eating disorders (n=54) and patients with anorexia nervosa (n=148) and bulimia nervosa (n=86)										
134903		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai, S. J.  et al. 2002	11979062				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2002 ;45(3):131-3	Association for serotonin transporter gene variable number tandem repeat polymorphism and schizophrenic disorders.		182138	13859	2	2002	This positive finding further supports the proposition that the 5-HTT-VNTR allele 12 is a risk factor for schizophrenic disorders in Chinese populations, although the effect is weak.	Case:114 Chinese schizophrenic patients:Taiwan;Control:127:controls										
134904		Alzheimer's disease; aggressive behavior; psychotic symptoms	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Sweet, R. A.  et al. 2001	12003247				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			International psychogeriatrics. 2001 Dec;13(4):401-9	The 5-HTTPR polymorphism confers liability to a combined phenotype of psychotic and aggressive behavior in Alzheimer disease.		182138	13860	2	2001	 The 5-HTTPR l allele appears to confer risk for the combined AD+P/aggressive phenotype. Confirmation of this association in a similar behaviorally well-characterized independent sample is needed.	Cohort 322 subjects diagnosed with possible or probable Alzheimer's disease 										
134899	Y	mood response	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Moreno, F. A.  et al. 2002	11840315			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2002 ;7(2):213-6	Association between a serotonin transporter promoter region polymorphism and mood response during tryptophan depletion.		182138	13855	2	2002	The use of endophenotypic markers for affective disorders such as the mood response to TRP depletion may facilitate studies of complex genetic traits such as depression by decreasing its heterogeneity.	Cohort 43 subjects in remission from a major depressive episode who underwent TRP depletion 										
134900		seasonal affective disorder; premenstrual dysphoric disorder	UNKNOWN	UNK	Premenstrual Syndrome|Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Praschak-Rieder, N.  et al. 2002	11872329				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European neuropsychopharmacology. 2002 Apr;12(2):129-34	Role of family history and 5-HTTLPR polymorphism in female seasonal affective disorder patients with and without premenstrual dysphoric disorder.		182138	13856	2	2002	PMDD and SAD may share genetic vulnerability factors, one candidate gene being 5-HTTLPR. The elevated rate of affective disorders in relatives of patients with SAD and PMDD suggests higher genetic vulnerability in this subgroup when compared to patients with SAD alone.	Control:43 SAD females withoutcont premenstrual dysphoric:disorder;Case:44 SAD females with premenstrual dysphoric disorder										
134901		cocaine dependence	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Patkar, A. A.  et al. 2001	11900612				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	African American		CDC GDPinfo	6532	Hs.591192			Addiction biology. 2001 Sep;6(4):337-345	Serotonin transporter (5-HTT) gene polymorphisms and susceptibility to cocaine dependence among African-American individuals.		182138	13857	2	2001	In conclusion, although comparisons with a heterogeneous control group indicated a possible association between allelic variants of 5-HTTLPR and cocaine dependence among African-American cocaine subjects, this relationship was not observed when the control group was limited to African-American people only. Our findings need to be confirmed on larger samples of ethnically matched individuals.	Control:101 controls not specified in abstract;Case:197 cocaine-dependent African-American subjects										
134896		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Wu, W. H.  et al. 2001	11702016	(C267T)			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2001 ;44(4):172-5	Association Study of the 5-HT(6) Receptor Polymorphism (C267T) and Symptomatology and Antidepressant Response in Major Depressive Disorders		182138	13852	2	2001	Further study with a functional 5-HT(6) polymorphism is needed to explore the role of 5-HT(6) in the pathogenesis of MDD.	Cohort 57 major depressive disorder patients 										
134897	N	suicide	PSYCH	PSY	Mood Disorders|Depressive Disorder|Personality Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Rujescu, D.  et al. 2001	11702061			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2001 Sep;11(3):169-72	A polymorphism in the promoter of the serotonin transporter gene is not associated with suicidal behavior		182138	13853	2	2001	These results suggest that the 5-HTTLPR polymorphism is unlikely to play a major role in the genetic susceptibility to suicide attempts. Conflicting results among the present and previous studies regarding an association between the polymorphism and suicidal behavior, however, suggest the possibility that there may be unidentified specific subtypes of suicidal behavior that are significantly associated with the polymorphism or, alternatively, simply reflect false-positive association results.	Case:124 German suicide attempters, who were consecutively:hospitalized;Control:185 German normal control subjects without a history of any DSM-IV axis I or II mental disorder										
134898	N	psychiatric disorders	PSYCH	PSY	Neurofibromatosis 1|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Bellivier, F.  et al. 2001	11803526				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2001 Dec;105(8):758-60	Serotonin transporter gene polymorphism and psychiatric disorders in NF1 patients.		182138	13854	2	2001	Our data do not support the implication of the 5-HTT gene in the psychiatric comorbidities of NF1.	Control:184 screened controls;Case:88 psychiatric disorder patients with NF1										
134893		Alzheimer's disease; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Sukonick, D. L.  et al. 2001	11559314				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Archives of neurology. 2001 Sep;58(9):1425-8	The 5-HTTPR*S/*L polymorphism and aggressive behavior in Alzheimer disease.		182138	13849	2	2001	 The 5-HTTPR*L allele and *L/*L genotype may predispose patients with AD to develop aggressive behavior.	Case:58 patients with Alzheimer's disease with a history of aggressive behavior;Control:79 never-aggressive patients with Alzheimer's disease										
134894		obsessive-compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Camarena, B.  et al. 2001	11602033				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The international journal of neuropsychopharmacology. 2001 Sep;4(3):269-72	Association study of the serotonin transporter gene polymorphism in obsessive-compulsive disorder.		182138	13850	2	2001	Our results indicate the need to analyse larger samples using family-based methods.	43 family-based trios ;Case:115 Mexican obsessive-compulsive disorder patients;Control:136 controls not otherwise specified in abstract										
134895	Y	suicide, alcohol-dependent	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Preuss, U. W.  et al. 2001	11690601				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2001 Oct;50(8):636-9	Association between suicide attempts and 5-HTTLPR-S-Allele in alcohol-dependent and control subjects: further evidence from a germanalcohol-dependent inpatient sample		182138	13851	2	2001	 The results are consistent with an association between the 5-HTTLPR-S-allele and suicide attempts in alcohol-dependent subjects.	Control:117 healthy controls;Case:163 German patients meeting DSM-IV criteria for alcohol:dependence										
134890		depression	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Liu, H. C.  et al. 2001	11442897	C267T			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Taiwan	CDC GDPinfo	6532	Hs.591192			Psychiatry and clinical neurosciences. 2001 Aug;55(4):427-9	Association analysis of the 5-HT6 receptor polymorphism C267T with depression in patients with Alzheimer's disease.		182138	13846	2	2001	The difference in the 5-HT6 genotype or allele distributions between the AD patients with depressive disorders (n = 25) and those without (n = 120) was not significant.	Cohort 145 AD patients with depressive disorders (n = 25) and those without (n = 120) was not significant. 										
134891		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Matsushita, S.  et al. 2001	11449397				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2001 Jul;105(5):446-50	Association study of serotonin transporter gene regulatory region polymorphism and alcoholism.		182138	13847	2	2001	Although these results indicate an association between 5-HTTLPR and a subgroup of alcoholics characterized by binge drinking, the authors found no differences in SSS and TCI subscale scores for alcoholics with different 5-HTTLPR genotypes. Future studies of the association in other alcoholic population should take into account personality traits.	Control:270 unrelated male non-alcoholic subjects, mainly hospital employees or persons connected with them, age-matched to cases:Japan;Case:697 alcoholic subjects:Japan	alcohol									
134892	Y	anxiety-related traits	PSYCH	PSY	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Melke, J.  et al. 2001	11449399				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2001 Jul;105(5):458-63	Serotonin transporter gene polymorphisms are associated with anxiety-related personality traits in women.		182138	13848	2	2001	Associations were found between the 5-HTTLPR and four of the five anxiety-related KSP scales (psychic anxiety, muscular tension, psychasthenia, and lack of assertiveness), subjects being homozygous for the short allele displaying higher anxiety scores than those of the long/long or long/short genotype. In addition, an association was found between the intron 2 polymorphism and one anxiety-related personality trait (somatic anxiety). Copyright 2001 Wiley-Liss, Inc.	Cohort 251 Caucasian women assessed with the Karolinska Scales of Personality and all born in 1956 										
134887		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Chromosome Deletion|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai, S. J.  et al. 2001	11408789				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese	Taiwan	CDC GDPinfo	6532	Hs.591192			Neuropsychobiology. 2001 ;44(1):27-30	Association study for a functional serotonin transporter gene polymorphism and late-onset Alzheimer's disease for Chinese patients.		182138	13843	2	2001	These results suggest that it is unlikely that the 5-HTTLPR polymorphism plays a substantial role in conferring susceptibility to AD.	Case:136 Alzheimer's disease patients:China;Control:83 >59 years of age, recruited form the general community or medical staff:China;Control:92 <60 years of age, recruited form the general community or medical staff:China										
134888	N	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Yilmaz, M.  et al. 2001	11412868				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Turkey	CDC GDPinfo	6532	Hs.591192			Journal of the neurological sciences. 2001 May;186(2-Jan):27-30	Significance of serotonin transporter gene polymorphism in migraine.		182138	13844	2	2001	 STin 2.10 and STin 2.12 alleles of VNTR are frequent in this country. While the presence of STin 2.10 allele increases the risk of migraine, 5-HTTLPR polymorphism is not associated with this risk.	Case:52:migraineurs;Control:80 healthy individuals										
134889		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Manor, I.  et al. 2001	11425009			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			American journal of medical genetics. 2001 Jan;105(1):91-5	Family-based association study of the serotonin transporter promoter region polymorphism (5-HTTLPR) in attention deficit hyperactivity disorder.		182138	13845	2	2001	A significant decrease in the short/short 5-HTTLPR genotype was observed in the ADHD type III combined group compared with the HRR-derived control group. Similar results were observed when allele frequencies were compared. These first findings should be interpreted cautiously until replicated in independently recruited clinical samples.	Control:196 parents of proband children;Case:98 proband children as part of parent-child triads										
134884	Y	conduct disorder; hyperkinetic disorder	OTHER	OTH	Hyperkinesis|Conduct Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Seeger, G.  et al. 2001	11317229				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2001 Mar;6(2):235-8	Functional polymorphism within the promotor of the serotonin transporter gene is associated with severe hyperkinetic disorders.		182138	13840	2	2001	To our knowledge, this is the first finding providing evidence for an association between the 5-HTT polymorphism and hyperkinetic disorder, implying that serotonergic neurotransmission might be affected in this disease. As a consequence, for a successful treatment of these patients one should now also consider drugs which specifically modulate serotonergic signalling such as selective serotonin reuptake inhibitors.	Case hyperkinetic disorder patients with conduct:disorder;Case hyperkinetic disorder patients without conduct:disorder;Control not specified in abstract										
134885	Y	neuroticism; agreeableness	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Du, L.  et al. 2000	11324940				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2000 Dec;10(4):159-64	Gender differences in association between serotonin transporter gene polymorphism and personality traits.		182138	13841	2	2000	These findings suggest that gender differences exist in contribution of genetic factors to behavioural phenotypes. They may also explain the inconsistencies in previous reports on association of Neuroticism with 5-HTTLPR from studies using different proportions of male and female subjects.	Cohort 186 unrelated normal subjects evaluated by the NEO Five Factor Inventory 										
134886	Y	suicidal behavior	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Courtet, P.  et al. 2001	11326306				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2001 May;6(3):338-41	Association between violent suicidal behavior and the low activity allele of the serotonin transporter gene.		182138	13842	2	2001	This suggests that a change in expression of the gene encoding the 5-HT transporter may be involved in violent suicidal behavior.	Control:139 individuals of the same ethnic origin, with no history of suicidal behavior;Case:51 West European Caucasians who had made violent suicide attempts										
134881	Y	obsessive-compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Enoch, M.  et al. 2001	11239910			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2001 Feb;49(4):385-8	Sexually dimorphic relationship of a 5-HT2A promoter polymorphism with obsessive-compulsive disorder.		182138	13837	2	2001	We have fouYd that a 5-HT(2A) promoter polymorphism is associated with obsessive-compulsive disorder iY womeY but Yot iY meY, streYgtheYiYg the argumeYt that there may be fuYdameYtal geYder differeYces iY the geYetic susceptibility to obsessive-compulsive disorder.	Case:101 Caucasian obsessive-compulsive disorder patients;Control:138 unspecified controls										
134882	Y	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Fumeron, F.  et al. 2001	11244478				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2001 Jan;6(1):10-Sep	Association of a functional 5-HT transporter gene polymorphism with anorexia nervosa and food intake.		182138	13838	2	2001	There is a great consistency between our results and the in vitro effects of the S allele. The effects of the S allele are quite similar to that of serotonergic anorectic drugs inhibitiing reuptake of the 5-HT. However, the effects observed here may be secondary to behavioral or psychological traits possibly associated with this polymorphism.	Control:148/358 normal weight controls (84 women, 64 men) drawn from the Stanislas Study (n=148) and overweight subjects (215 women, 143 men);Case:67 anorexia nervosa patients (65 women, 2 men)										
134883		schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia, Paranoid	17	17q11.1-q12	SLC6A4	25549031	25586831		Kaiser, R.  et al. 2001	11317220				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2001 Mar;6(2):179-85	Serotonin transporter polymorphisms: no associationwith response to antipsychotic treatment, but associations with the schizoparanoid and residual subtypes of schizophrenia		182138	13839	2	2001	In conclusion, the 44-bp polymorphism may be associated with the schizo-affective and the 17-bp VNTR with the residual and schizo-paranoid subtype of schizophrenia, findings which require further biochemical and epidemiological confirmation.	Control:587 healthy controls;Case:684 schizophrenic inpatients	antipsychotic drug									
134878		alcohol dependence	CHEMDEPENDENCY	CHEM	Tourette Syndrome|Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Thompson, M. D.  et al. 2000	11113619				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Alcohol (Fayetteville, NY). 2000 Oct;22(2):61-7	Serotonin transporter gene polymorphisms in alcohol dependence.		182138	13833	2	2000	The data presented suggests a trend toward increased frequency of the S promoter allele in alcohol-dependent, alcoholic-TS and TS patients.	Control:125 ethnically matched controls;Case:131 alcohol-dependent patients of Northern and Western European descent										
134879	N	suicidal behavior	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Chong, S. A.  et al. 2000	11166082				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2000 Dec;97(3-Feb):101-6	Attempted suicide and polymorphism of the serotonin transporter gene in Chinese patients with schizophrenia.		182138	13835	2	2000	From our results, this 5-HTTLPR polymorphism is unlikely to have a major effect on suicidal behavior in Chinese patients with schizophrenia.	Control:262 non-suicidal patients with a diagnosis of:schizophrenia;Case:76 Chinese suicidal patients with a diagnosis of:schizophrenia										
134880		schizophrenia; schizoaffective disorder; affective disorder	PSYCH	PSY	Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Shcherbatykh, T. V.  et al. 2000	11190480				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Genetika. 2000 Dec;36(12):1712-5	Polymorphism in the human serotonin transporter gene in endogenous psychoses		182138	13836	2	2000	The results of the analysis of the 5-HTTLPR polymorphism suggest an association of the short (s) allele of the 5-HTTLPR polymorphism with schizophrenia and schizoaffective psychoses, but not with affective disorders.	Control:277 control individuals without mental disorders;Case:423 patients with endogenous psychoses										
134875	N	schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia, Paranoid	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Kaiser R et al. 2001	11317220				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045			KGB	6532	Hs.448453			Molecular psychiatry. 2001 Mar;6(2):179-85	Serotonin transporter polymorphisms: no association with response to antipsychotic treatment but associations with the schizoparanoid and residual subtypes of schizophrenia.		182138	8131	1	2001	In conclusion, the 44-bp polymorphism may be associated with the schizo-affective and the 17-bp VNTR with the residual and schizo-paranoid subtype of schizophrenia, findings which require further biochemical and epidemiological confirmation.	Control:587 healthy controls;Case:684 schizophrenic inpatients	antipsychotic drug									
134876		psychoses	PSYCH	PSY	Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Galeeva, A. R.  et al. 2000	10666888				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Russian		CDC GDPinfo	6532	Hs.591192			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2000 ;100(1):52-5	[Peculiarities of polymorphism in gene of serotonin transporter in men from different ethnic groups with acute alcoholic psychoses]		182138	13831	2	2000	Among the men, who developed acute alcoholic psychosis at the age over 35 there were significant differences in distribution of frequences of genotype of hSERT-gene between the populations. Genetic heterogeneity of such pathology in Russians and Tatars and impact of hSERT in the development of the disease in Tatars, are suggested.	Cohort men of Russian and Tatar nationalities with acute alcoholic psychoses 										
134877		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Hu, M.  et al. 2000	11044587			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Neuroscience letters. 2000 Nov;294(1):63-5	Promoter polymorphism of the 5-HT transporter and Alzheimer's disease.		182138	13832	2	2000	This study supports the notion that genetic alterations in the serontonergic neurotransmitter system may be involved in the etiopathogenesis of AD. However, given the reported negative findings, we are presently trying to identify diagnostic subgroups for which the 5-HTT promoter polymorphism represents a susceptibility locus.	Case not in abstract										
134872		depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Frodl T 2004	14757594				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Archives of general psychiatry. 2004 Feb;61(2):177-83	Reduced hippocampal volumes associated with the long variant of the serotonin transporter polymorphism in major depression.		182138	5541	1	2004	 These findings suggest that homozygosity for the L allele is associated with decreased hippocampal volumes in patients with major depression but not in healthy controls. A possible explanation is that the interaction between the serotonergic system and neurotrophic factors as well as excitatory amino acid neurotransmission may affect hippocampal morphologic characteristics.	Control:40 healthy controls matched for age, sex, and:handedness;Case:40 inpatients with major depression										
134873	Y	violent suicidal behavior	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Courtet P et al. 2001	11326306				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2001 May;6(3):338-41	Association between violent suicidal behavior and the low activity allele of the serotonin transporter gene.		182138	5542	1	2001	This suggests that a change in expression of the gene encoding the 5-HT transporter may be involved in violent suicidal behavior.	Control:139 individuals of the same ethnic origin, with no history of suicidal behavior;Case:51 West European Caucasians who had made violent suicide attempts										
134874	Y	personality traits	PSYCH	PSY	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Melke J et al. 2001	11449399				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 2001 Jul;105(5):458-63	Serotonin transporter gene polymorphisms are associated with anxiety-related personality traits in women.		182138	8130	1	2001	Associations were found between the 5-HTTLPR and four of the five anxiety-related KSP scales (psychic anxiety, muscular tension, psychasthenia, and lack of assertiveness), subjects being homozygous for the short allele displaying higher anxiety scores than those of the long/long or long/short genotype. In addition, an association was found between the intron 2 polymorphism and one anxiety-related personality trait (somatic anxiety). Copyright 2001 Wiley-Liss, Inc.	Cohort 251 Caucasian women assessed with the Karolinska Scales of Personality and all born in 1956										
134869	N	Deliberate self-harm	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831	n	Pooley EC 2003	12877392	LPR S/L			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182138	5538	1	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
134870	N	anorexia nervosa.	PSYCH	PSY	Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Urwin RE 2003	12784104				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuropsychopharmacology. 2003 Jul;28(7):1351-5	Investigation of epistasis between the serotonin transporter and norepinephrine transporter genes in anorexia nervosa.		182138	5539	1	2003												
134871		affective disorder	PSYCH	PSY	Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Thierry N 2004	14659987			5' promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			European neuropsychopharmacology. 2004 Jan;14(1):53-8	Serotonin transporter promoter gene polymorphic region (5-HTTLPR) and personality in female patients with seasonal affective disorder and in healthy controls.		182138	5540	1	2004	Our data indicate that females with SAD show altered personality traits. The s allele was associated with lower Self-Directedness scores in SAD patients, whereas there were no significant differences in TCI dimensions between patients and controls in carriers of the long allele.	Case:56 female patients with seasonal affective disorder;Control:76 age-matched female controls										
134866		migraine	NEUROLOGICAL	NEUR	Migraine Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Juhasz G 2003	12962916				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192	platelet serotonin concentration, lower platelet serotonin concentration		Neuroscience letters. 2003 Oct;350(1):56-60	Despite the general correlation of the serotonin transporter gene regulatory region polymorphism (5-HTTLPR) and platelet serotonin concentration, lower platelet serotonin concentration in migraine patients is independent of the 5-HTTLPR variants.		182138	5535	1	2003	In conclusion, 5-HTTLPR variants may have an effect on the platelet 5-HT concentrations, but the lower 5-HT concentrations in migraine patients seem to be determined by other factors.	Control:42 healthy controls;Case:64 female migraine patients without aura										
134867		impulsive trait	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Sakado K 2003	12898578				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		KGB	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):71-5	A psychometrically derived impulsive trait related to a polymorphism in the serotonin transporter gene-linked polymorphic region (5-HTTLPR) in a Japanese nonclinical population: assessment by the Barratt impulsiveness scale (BIS).		182138	5536	1	2003	These findings suggest that individuals with a homozygous S-allele may be more impulsive than those with the other genotype.	Cohort 123 employed Japanese male adults Japan										
134868	N	seasonal affective disorder	OTHER	OTH	Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Johansson C 2003	12877393			5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychological medicine. 2003 Jul;33(5):785-92	The serotonin transporter promoter repeat length polymorphism, seasonal affective disorder and seasonality.		182138	5537	1	2003	 These results do not suggest a major role of the short variant of 5-HTTLPR in susceptibility to SAD, but provide modest evidence for an effect on seasonality.											
134863		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Hranilovic D 2003	14573315			5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Croatia	KGB	6532	Hs.591192			Biological psychiatry. 2003 Nov;54(9):884-9	Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphisms in Croatian suicide victims.		182138	5532	1	2003	 Our results provide modest evidence for a possible association of the 5HT transporter gene with a completed suicide. Further studies are needed to determine whether alterations in 5HTt gene expression are involved in suicidal behavior.	Case:135 suicide victims of Croatian/southern Slavic origin;Control:299 healthy control subjects										
134864		fluoxetine treatment	OTHER	OTH	Psychomotor Agitation|Sleep Initiation and Maintenance Disorders|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Perlis RH 2003	14573314				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Biological psychiatry. 2003 Nov;54(9):879-83	Serotonin transporter polymorphisms and adverse effects with fluoxetine treatment.		182138	5533	1	2003	 The S allele of the 5HTTLPR may identify patients at risk for developing insomnia or agitation with fluoxetine treatment. This preliminary result requires confirmation in larger samples.	Cohort 36 outpatients with major depressive disorder	fluoxetine									
134865	Y	chronic obstructive pulmonary disease	OTHER	OTH	Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Hyperplasia|Anoxia|Anoxemia	17	17q11.1-q12	SLC6A4	25549031	25586831		Eddahibi S 2003	14530202				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Circulation. 2003 Oct;108(15):1839-44	Polymorphism of the serotonin transporter gene and pulmonary hypertension in chronic obstructive pulmonary disease.		182138	5534	1	2003	 5-HTT gene polymorphism appears to determine the severity of PH in hypoxemic patients with COPD. Because PH is an important prognostic factor in this disease, recognition of patients at risk for PH should be helpful in managing COPD.	Case:103 patients with COPD recruited in France (n=67) and the UK (n=36):France, UK;Control:98 subjects from the 2 countries										
134859	N	Major Psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Psychotic Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 2002	11803453			5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)	Italy	Serretti	6532	Hs.591192			Molecular psychiatry. 2002 ;7(1):95-9	Serotonin transporter gene (5-httlpr) and major psychoses		182138	5528	1	2002	5-HTTLPR variants are not therefore a liability factor for major psychoses or for major psychoses symptomatology.	Case:1820 inpatients (789 bipolars, 667 major depressives, 66 delusionals, 261 schizophrenics, 37 psychotics not otherwise specified-NOS);Control:457 control subjects not otherwise specified in:abstract										
134860	Y	major and bipolar depressives	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n.s.	Serretti A et al. 2001	11526473			5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192			Molecular psychiatry. 2001 Sep;6(5):586-92	Influence of tryptophan hydroxylase and serotonin transporter genes on fluvoxamine antidepressant activity		182138	5529	1	2001		Case:217	fluvoxamine pindolol									
134862		personality traits	PSYCH	PSY	Alcoholism|Mental Disorders|Depressive Disorder|Neurotic Disorders|Personality Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Jorm AF et al. 1998	9774781				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Australia	KGB	6532	Hs.591192			Molecular psychiatry. 1998 Sep;3(5):449-51	An association study of a functional polymorphism of the serotonin transporter gene with personality and psychiatric symptoms.		182138	5531	1	1998												
134855	N	autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Persico AM et al. 2000	10686565			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 2000 Feb;96(1):123-7	Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples.		182138	5524	1	2000												
134856		Manic-depressive illness	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Piccardi MP et al. 2002	11901356				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 2002 Mar;12(1):23-7	Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes.		182138	5525	1	2002												
134857	Y	pathological gambling	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Perez de Castro I et al. 1999	10471073				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Pharmacogenetics. 1999 Jun;9(3):397-400	Genetic contribution to pathological gambling: possible association between a functional DNA polymorphism at the serotonin transporter gene (5-HTT) and affected men.		182138	5526	1	1999												
134858		panic disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Ishiguro H et al. 1997	9413883				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		KGB	6532	Hs.591192			Psychiatry and clinical neurosciences. 1997 Oct;51(5):333-5	An association study between a transcriptional polymorphism in the serotonin transporter gene and panic disorder in a Japanese population.		182138	5527	1	1997												
134852	N	Major Depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Minov C 2001	11311507	Insertion/ Deletion (I/D) polymorphism in the serotonin transporter		5`promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuroscience letters. 2001 May;303(2):119-22	Serotonin-2A-receptor and -transporter polymorphisms: lack of association in patients withmajor depression		182138	5521	1	2001	Overall our results suggest that the investigated 5-HT2A and 5-HTTLPR polymorphisms are not major susceptibility factors in the etiology of major depression. However, subtypes might be identified at least on a basis of differential treatment response.	Control:121 healthy controls;Case:173 patients with major depression										
134853		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rees M et al. 1997	9322234				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 1997 Sep;2(5):398-402	Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT).		182138	5522	1	1997												
134854	N	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Patkar AA et al. 2002	12218660				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Pennsylvania	KGB	6532	Hs.591192			Psychiatric genetics. 2002 Sep;12(3):161-4	No association between polymorphisms in the serotonin transporter gene and susceptibility to cocaine dependence among African-American individuals.		182138	5523	1	2002	Our findings do not seem to support a relationship between VNTR polymorphisms and cocaine dependence among African-American patients. Further studies involving larger samples are required to confirm our results.	Case:156 cocaine-dependent subjects;Control:82:controls										
134849		alcoholism	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Kranzler H et al. 2002	12351926			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Alcoholism, clinical and experimental research. 2002 Sep;26(9):1330-5	Association study of alcoholism subtypes with a functional promoter polymorphism in the serotonin transporter protein gene.		182138	5518	1	2002	 Variable findings in the literature in relation to the association of 5'-HTTLPR alleles to alcohol dependence seem to be due to factors other than the composition of study samples in terms of univariate typologies based on sex, comorbid drug dependence, or age of onset of alcohol dependence.	Control:235 control subjects (192 EAs and 43 Aas);Case:471 alcohol-dependent subjects [363 European Americans (EAs) and 108 African Americans (AAs)]										
134850	Y	personality traits	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Retz W et al. 2002	11834311			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuroscience letters. 2002 Feb;319(3):133-6	Association of attention deficit hyperactivity disorder-related psychopathology and personality traits with the serotonin transporter promoter region polymorphism.		182138	5519	1	2002												
134851		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai SJ et al. 2002	11979062				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuropsychobiology. 2002 ;45(3):131-3	Association for serotonin transporter gene variable number tandem repeat polymorphism and schizophrenic disorders.		182138	5520	1	2002	This positive finding further supports the proposition that the 5-HTT-VNTR allele 12 is a risk factor for schizophrenic disorders in Chinese populations, although the effect is weak.	Case:114 Chinese schizophrenic patients:Taiwan;Control:127:controls										
134845	Y	harm avoidance behaviour in an elderly population.	AGING	AGE		17	17q11.1-q12	SLC6A4	25549031	25586831		Ricketts MH et al. 1998	9686420			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	elderly		KGB	6532	Hs.591192			Psychiatric genetics. 1998 ;8(2):41-4	Association of a serotonin transporter gene promoter polymorphism with harm avoidance behaviour in an elderly population.		182138	5514	1	1998												
134847	N	mood disorder.	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Seretti A et al. 1999	10395220	T-45C			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192	depressive symptomatology		Molecular psychiatry. 1999 May;4(3):280-3	Serotonin transporter gene (5-HTTLPR) is not associated with depressive symptomatology in mood disorders.		182138	5516	1	1999												
134848	N	Major Psychoses	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Paranoid Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 1999	10490703	44-bp insertion or deletion involving repeat elements 6-8		5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192			American journal of medical genetics. 1999 Oct;88(5):481-5	No interaction between serotonin transporter gene and dopamine receptor D4 gene in symptomatology of major psychoses		182138	5517	1	1999		Case:SKZ=162; BP=152; UP=83; DELUSIONAL=56; NOS:8										
134842	N	mood disorders	PSYCH	PSY	Disease Susceptibility|Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Hoehe MR et al. 1998	9514579				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 1998 Feb;81(1):3-Jan	Serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders.		182138	5511	1	1998												
134843	N	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 1999	9988839	44-bp insertion or deletion involving repeat elements 6-8		5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192	schizophrenia		Schizophrenia research. 1999 Jan;35(1):33-9	Serotonin transporter gene is not associated with symptomatology of schizophrenia.		182138	5512	1	1999		Case:SKZ: 161										
134844	Y	anorexia nervosa and food intake	PSYCH	PSY	Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Fumeron F et al. 2001	11244478				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2001 Jan;6(1):10-Sep	Association of a functional 5-HT transporter gene polymorphism with anorexia nervosa and food intake.		182138	5513	1	2001	There is a great consistency between our results and the in vitro effects of the S allele. The effects of the S allele are quite similar to that of serotonergic anorectic drugs inhibitiing reuptake of the 5-HT. However, the effects observed here may be secondary to behavioral or psychological traits possibly associated with this polymorphism.	Control:148/358 normal weight controls (84 women, 64 men) drawn from the Stanislas Study (n=148) and overweight subjects (215 women, 143 men);Case:67 anorexia nervosa patients (65 women, 2 men)										
134839	Y	schizophrenia	PSYCH	PSY	Hallucinations|Psychotic Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Malhotra AK et al. 1998	9702741				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 1998 Jul;3(4):328-32	A functional serotonin transporter (5-HTT) polymorphism is associated with psychosis in neuroleptic-free schizophrenics.		182138	5508	1	1998												
134840		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Chromosome Deletion|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai SJ et al. 2001	11408789				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese	Taiwan	KGB	6532	Hs.591192			Neuropsychobiology. 2001 ;44(1):27-30	Association study for a functional serotonin transporter gene polymorphism and late-onset Alzheimer's disease for Chinese patients.		182138	5509	1	2001	These results suggest that it is unlikely that the 5-HTTLPR polymorphism plays a substantial role in conferring susceptibility to AD.	Case:136 Alzheimer's disease patients:China;Control:83 >59 years of age, recruited form the general community or medical staff:China;Control:92 <60 years of age, recruited form the general community or medical staff:China										
134841		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Manor I et al. 2001	11425009			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 2001 Jan;105(1):91-5	Family-based association study of the serotonin transporter promoter region polymorphism (5-HTTLPR) in attention deficit hyperactivity disorder.		182138	5510	1	2001	A significant decrease in the short/short 5-HTTLPR genotype was observed in the ADHD type III combined group compared with the HRR-derived control group. Similar results were observed when allele frequencies were compared. These first findings should be interpreted cautiously until replicated in independently recruited clinical samples.	Control:196 parents of proband children;Case:98 proband children as part of parent-child triads										
134835	Y	major depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Yu YW et al. 2002	12476327			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2002 ;7(10):1115-9	Association study of the serotonin transporter promoter polymorphism and symptomatology and antidepressant response in major depressive disorders.		182138	5504	1	2002	Our findings confirm reports that the l allele is associated with better SSRI response.	Cohort 121 Chinese patients diagnosed with major depression	fluoxetine									
134836		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cavallini MC et al. 2002	11920862				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 2002 Apr;114(3):347-53	Exploratory factor analysis of obsessive-compulsive patients and association with 5-HTTLPR polymorphism.		182138	5505	1	2002												
134837	N	autism	PSYCH	PSY	Fragile X Syndrome|Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Zhong N et al. 1999	10369890				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		United States|Germany	KGB	6532	Hs.591192			Neurogenetics. 1999 Apr;2(2):129-31	5-HTTLPR variants not associated with autistic spectrum disorders.		182138	5506	1	1999												
134832		High ethanol tolerance	OTHER	OTH	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Turker T et al. 1998	9654330				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	young adults		KGB	6532	Hs.591192	low-activity variant of the promoter		Neuroscience letters. 1998 Jun;248(3):147-50	High ethanol tolerance in young adults is associated with the low-activity variant of the promoter of the human serotonin transporter gene.		182138	5501	1	1998												
134833	Y	temporomandibular joint pain	OTHER	OTH	Temporomandibular Joint Dysfunction Syndrome|Genetic Predisposition to Disease|Somatoform Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Herken H et al. 2001	11552131				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of orthodontics and dentofacial orthopedics. 2001 Sep;120(3):308-13	Possible association of temporomandibular joint pain and dysfunction with a polymorphism in the serotonin transporter gene.		182138	5502	1	2001												
134834	Y	autism	PSYCH	PSY	Disease Susceptibility|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Klauck SM et al. 1997	9361027				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	German	United States|Germany	SMK	6532	Hs.591192			Human molecular genetics. 1997 Dec;6(13):2233-8	Serotonin transporter (5-HTT) gene variants associated with autism?		182138	5503	1	1997		Case:65										
134827	N	non-violent suicidal behavior	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831	n	Courtet P et al. 2003	12497618			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):72-6	No association between non-violent suicidal behavior and the serotonin transporter promoter polymorphism.		182138	5496	1	2003	The frequeYcies of the S allele aYd the SS geYotype iY the sample who attempted YoY-violeYt suicide were Yot statistically differeYt to those iY the coYtrols. Thus, the geYetically altered expressioY of the 5-HT traYsporter might be associated with more severe or violeYt suicidal behavior, but Yot with YoY-violeYt suicidal behavior.	Control:139 controls with no history of suicidal behavior of the same ethnic origin;Case:166 West European Caucasians who attempted suicide by a non-violent mean										
134828		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Kirov G et al. 1999	10576317				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychological medicine. 1999 Sep;29(5):1249-54	Bipolar disorder and the serotonin transporter gene: a family-based association study.		182138	5497	1	1999	 The 12 repeat of the VNTR in intron 2 of the serotonin transporter gene might be a susceptibility factor in bipolar affective disorder. The genetic effect, if true, is likely to be small, and requires confirmation in further studies using parental controls.											
134829		Manic-depressive illness	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Piccardi MP et al. 2002	11901356				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 2002 Mar;12(1):23-7	Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes.		182138	5498	1	2002												
134824	N	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831	n	Ebstein RP et al. 1997	9152986			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 1997 May;2(3):224-6	No association between the serotonin transporter gene regulatory region polymorphism and the Tridimensional Personality Questionnaire (TPQ) temperament of harm avoidance.		182138	5493	1	1997												
134825	Y	mood disorders	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Bellivier F et al. 2000	10960164				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192	violent suicidal behavior		Biological psychiatry. 2000 Aug;48(4):319-22	Possible association between serotonin transporter gene polymorphism and violent suicidal behavior in mood disorders.		182138	5494	1	2000	 A genetic variant of the 5-HTT gene may predispose individuals to violent suicidal behavior. The precise phenotype associated with the 5-HTT gene is unclear, and therefore further studies are required to replicate these findings.											
134826	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Neumeister A et al. 2002	12090814			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192	tryptophan depletion		Archives of general psychiatry. 2002 Jul;59(7):613-20	Association between serotonin transporter gene promoter polymorphism (5HTTLPR) and behavioral responses to tryptophan depletion in healthy women with and without family history of depression.		182138	5495	1	2002	 The results of the present study suggest that the s-allele of the 5HTTLPR and a positive family history of depression are additive risk factors for the development of depression during TD.	Cohort 24/21 healthy women with a negative family history of depression (n=24) and women with a positive history of depression (n=21)	tryptophan depletion									
134821	Y	smoking	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Ishikawa H et al. 1999	10498403				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		KGB	6532	Hs.591192	smoking		Cancer epidemiology, biomarkers & prevention. 1999 Sep;8(9):831-3	Association between serotonin transporter gene polymorphism and smoking among Japanese males.		182138	5490	1	1999												
134822	Y	anxiety disorders	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Ohara K et al. 1998	9858044				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatry research. 1998 Nov;81(2):277-9	Association between anxiety disorders and a functional polymorphism in the serotonin transporter gene.		182138	5491	1	1998												
134823	Y	major depression	PSYCH	PSY	Disease Susceptibility|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Ogilvie AD et al. 1996	8602004				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Lancet. 1996 Mar;347(9003):731-3	Polymorphism in serotonin transporter gene associated with susceptibility to major depression.		182138	5492	1	1996												
134817	Y	anxiety-related traits	PSYCH	PSY	Anxiety Disorders|Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lesch KP et al. 1996	8929413			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Science. 1996 Nov;274(5292):1527-31	Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region.		182138	5486	1	1996												
134818	Y	suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia E et al. 2002	11927194				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuropsychopharmacology. 2002 May;26(5):692-5	A gender-specific association between the serotonin transporter gene and suicide attempts.		182138	5487	1	2002	Lethality appeared to have a significant influence on the effects of the genotype in suicide since S females were overrepresented among non-lethal female attempters. Further studies are needed to replicate that the serotonin genotype polymorphism may influence suicide attempts only in females.	Case:180 suicide attempters (121 women and 59 men);Control:212 control blood donors (93 women and 119 men)										
134819		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	17	17q11.1-q12	SLC6A4	25549031	25586831		Li T et al. 2002	11920858				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese	China	KGB	6532	Hs.591192			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		182138	5488	1	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
134814	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Comings DE et al. 1999	10381332				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular genetics and metabolism. 1999 Jul;67(3):248-53	Association of the serotonin transporter gene with serum cholesterol levels and heart disease.		182138	5483	1	1999												
134815	Y	affective disorder	PSYCH	PSY	Fatigue|Seasonal Affective Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Lenzinger E et al. 1999	10333377				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatry research. 1999 Mar;85(3):241-6	Behavioral effects of tryptophan depletion in seasonal affective disorder associated with the serotonin transporter gene?		182138	5484	1	1999												
134816	Y	personality traits	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Du L et al. 2000	11324940				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 2000 Dec;10(4):159-64	Gender differences in association between serotonin transporter gene polymorphism and personality traits.		182138	5485	1	2000	These findings suggest that gender differences exist in contribution of genetic factors to behavioural phenotypes. They may also explain the inconsistencies in previous reports on association of Neuroticism with 5-HTTLPR from studies using different proportions of male and female subjects.	Cohort 186 unrelated normal subjects evaluated by the NEO Five Factor Inventory										
134810	Y	auditory evoked potential	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Strobel A et al. 2003	12627465				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):41-7	Allelic variation in serotonin transporter function associated with the intensity dependence of the auditory evoked potential.		182138	5479	1	2003	Individuals with the ll genotype exhibited a stronger intensity dependence compared to individuals with the ls genotype. This effect was even more pronounced when DRD4 exon III was considered in the analyses. In conclusion, these findings provide further evidence for a role of serotonergic neurotransmission in the modulation of the AEP intensity dependence. The results also point to possible dopaminergic influences on the AEP intensity dependence.	Cohort 60 healthy young individuals										
134811	Y	suicide family history	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Joiner TE Jr et al. 2002	12374478				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Suicide & life-threatening behavior. 2002 ;32(3):329-32	Association between serotonin transporter gene polymorphism and family history of attempted and completed suicide.		182138	5480	1	2002	These data, to be interpreted with the study's limitations in mind, suggest a link between the serotonin transporter gene polymorphism and suicide-related variables, which should be the focus of future research.	Cohort 47 volunteers responding to questionnaries about family history of suicide										
134812	Y	anxiety-related traits	PSYCH	PSY	Genetic Predisposition to Disease|Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Katsuragi S et al. 1999	10023516				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Japan	KGB	6532	Hs.591192			Biological psychiatry. 1999 Feb;45(3):368-70	Association between serotonin transporter gene polymorphism and anxiety-related traits.		182138	5481	1	1999	 These data supported that there was an association between the serotonin transporter gene and anxiety.											
134807		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Tsai SJ et al. 2000	10962219				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Schizophrenia research. 2000 Sep;44(3):177-81	Association study of a functional serotonin transporter gene polymorphism with schizophrenia psychopathology and clozapine response.		182138	5476	1	2000												
134808	N	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	p=0.21	Camarena B et al. 2001	11602033		Transcriptional activity	5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Mexican		KGB	6532	Hs.591192			The international journal of neuropsychopharmacology. 2001 Sep;4(3):269-72	Association study of the serotonin transporter gene polymorphism in obsessive-compulsive disorder.		182138	5477	1	2001	Our results indicate the need to analyse larger samples using family-based methods.	43 family-based trios ;Case:115 Mexican obsessive-compulsive disorder patients;Control:136 controls not otherwise specified in abstract										
134809		anxiety	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Osher Y et al. 2000	10822353			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Israeli		KGB	6532	Hs.591192			Molecular psychiatry. 2000 Mar;5(2):216-9	Association and linkage of anxiety-related traits with a functional polymorphism of the serotonin transporter gene regulatory region in Israeli sibling pairs.		182138	5478	1	2000												
134804		Major psychiatric disorders	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Dimitrova A et al. 2002	12218657				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 2002 Sep;12(3):137-41	Major psychiatric disorders and the serotonin transporter gene (SLC6A4): family-based association studies.		182138	5473	1	2002												
134805	Y	bipolar and unipolar disorder	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	0.005	Serretti A et al. 2001	11913731	44-bp insertion or deletion involving repeat elements 6-8		5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192	bipolar and unipolar disorder		The pharmacogenomics journal. 2001 ;1(1):71-7	Serotonin transporter gene associated with lithium prophylaxis in mood disorders.		182138	5474	1	2001	5-HTTLPR variants may be a possible influencing factor for the prophylactic efficacy of lithium in mood disorders.	Cohort 201 subjects affected by bipolar (n = 167) and major depressive (n = 34) disorder	lithium									
134806	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 2002	11992558				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian			6532	Hs.591192			American journal of medical genetics. 2002 May;114(4):361-9	Family-based association study of 5-HTTLPR TPH MAO-A and DRD4 polymorphisms in mood disorders.		182138	5475	1	2002		Case:103BP-58 MD										
134799	N	personality traits	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Gustavsson JP et al. 1999	10402513				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 1999 Aug;88(4):430-6	No association between serotonin transporter gene polymorphisms and personality traits.		182138	5468	1	1999												
134800	Y	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kumakiri C et al. 1999	10213171			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		KGB	6532	Hs.591192			Neuroscience letters. 1999 Mar;263(3-Feb):205-7	Study of the association between the serotonin transporter gene regulatory region polymorphism and personality traits in a Japanese population.		182138	5469	1	1999												
134801	N	psychotic symptomatology of mood disorders	PSYCH	PSY	Depressive Disorder, Major|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 1999	10359482	44-bp insertion or deletion involving repeat elements 6-8		5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192	mania, depression, delusion, disorganization		Psychiatry research. 1999 Apr;86(1):59-65	Serotonin transporter gene not associated with psychotic symptomatology of mood disorders.		182138	5470	1	1999		Case:BP:160; DM: 70										
134796	Y	Anxiety traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Murakami F et al. 1999	9929970			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese		KGB	6532	Hs.591192			Journal of human genetics. 1999 ;44(1):15-7	Anxiety traits associated with a polymorphism in the serotonin transporter gene regulatory region in the Japanese.		182138	5465	1	1999												
134797	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Maestrini E et al. 1999	10490705				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 1999 Oct;88(5):492-6	Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.		182138	5466	1	1999												
134798	Y	severe hyperkinetic disorders	OTHER	OTH	Hyperkinesis|Conduct Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Seeger G et al. 2001	11317229				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2001 Mar;6(2):235-8	Functional polymorphism within the promotor of the serotonin transporter gene is associated with severe hyperkinetic disorders.		182138	5467	1	2001	To our knowledge, this is the first finding providing evidence for an association between the 5-HTT polymorphism and hyperkinetic disorder, implying that serotonergic neurotransmission might be affected in this disease. As a consequence, for a successful treatment of these patients one should now also consider drugs which specifically modulate serotonergic signalling such as selective serotonin reuptake inhibitors.	Case hyperkinetic disorder patients with conduct:disorder;Case hyperkinetic disorder patients without conduct:disorder;Control not specified in abstract										
134793		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Sander T et al. 1997	9394104				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Alcoholism, clinical and experimental research. 1997 Nov;21(8):1356-9	Association analysis of a regulatory variation of the serotonin transporter gene with severe alcohol dependence.		182138	5462	1	1997												
134794		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Kunugi H et al. 2000	10898905				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Japan	KGB	6532	Hs.591192			American journal of medical genetics. 2000 Jun;96(3):307-9	Alzheimer's disease and 5-HTTLPR polymorphism of the serotonin transporter gene: no evidence for an association.		182138	5463	1	2000												
134795	Y	anxiety symptoms	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Evans J et al. 1997	9225267				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuropharmacology. 1997 Apr-May;36(5-Apr):439-43	Association of short alleles of a VNTR of the serotonin transporter gene with anxiety symptoms in patients presenting after deliberate self harm.		182138	5464	1	1997												
134789	N	Tourette`s Syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Cavallini MC 2000	11166081	Insertion/Deletion (I/D) polymorphism in the promoter region of the serotonin transporter gene		5`promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatry research. 2000 Dec;97(3-Feb):93-100	An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome.		182138	5458	1	2000	The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology.	Case:52 Tourette syndrome patients;Control:63 heatlhy individuals										
134790	Y	Anxiety and hostility and depression	PSYCH	PSY	Depressive Disorder|Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	<0.01	Brummett BH 2003	12605095	short allele variant of 5-HTTPLR			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KEW	6532	Hs.591192			Psychiatric genetics. 2003 Mar;13(1):13-8	Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depressionand gender		182138	5459	1	2003	 The present findings failed to replicate prior work suggesting that the short variant of the 5-HTTLPR allele is associated with higher Neuroticism and lower Agreeableness.	Case:103 geriatric depressed patients;Control:99 non-depressed age matched controls										
134791		affective disorder	PSYCH	PSY	Disease Susceptibility|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Battersby S et al. 1996	9149321				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 1996 ;6(4):177-81	Structure of a variable number tandem repeat of the serotonin transporter gene and association with affective disorder.		182138	5460	1	1996												
134785	Y	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	0.014	Heiden A 2000	11093065				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Neuropsychobiology. 2000 ;42 Suppl 1:18-21			182138	5454	1	2000												
134786	N	Panic Disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Hamilton SP 1999	10335545	44 base pair deletion/ insertion			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Psychiatric genetics. 1999 Mar;9(1):6-Jan			182138	5455	1	1999												
134788	N	Harm avoidance	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831	n	Herbst JH 2000	10910792			5`promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			The American journal of psychiatry. 2000 Aug;157(8):1285-90			182138	5457	1	2000	 This investigation produced no support for the temperament-character model at either the biological or psychological level.											
134781		cirrhosis, alcoholic; alcoholism	UNKNOWN	UNK	Alcoholism	5	5p15.3	SLC6A3	1445908	1498543		Foley, P. F.  et al. 2004	15542698				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Caucasian		CDC GDPinfo	6531	Hs.406			Annals of the New York Academy of Sciences. 2004 Oct;1025:39-46	Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians.		126455	27836	2	2004	Combined DRD2TaqI A or B with GABA(A)-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism.	Case:alcoholics;Control:controls										
134782		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Batra, V.  et al. 2003	12740294				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		126455	27837	2	2003	Review article											
134783		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Lerman, C.  et al. 2003	12627466				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		126455	28259	2	2003	Review article											
134778		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Zhang, M.  et al. 2003	12579508				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese		CDC GDPinfo	6531	Hs.406			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):69-71	[Associations between six functional genes and schizophrenia]		126455	27216	2	2003	 The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.	Control:controls;Case:67 Chinese Han schizophrenic patients										
134779		Tourette syndrome	PSYCH	PSY	Tourette Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Diaz-Anzaldua, A.  et al. 2004	15094788				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Canadian	Quebec	CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2004 Mar;9(3):272-7	Tourette syndrome and dopaminergic genes: afamily-based association study in the French Canadian founder population.		126455	27217	2	2004	These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.	Cohort 110 French Canadian Tourette syndrome patients 										
134780		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	5	5p15.3	SLC6A3	1445908	1498543		Hemmings, S. M.  et al. 2003	12650952				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			European neuropsychopharmacology. 2003 Mar;13(2):93-8	Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.		126455	27218	2	2003	Although no statistically significant genotypic or allelic associations were detected, the data yielded interesting preliminary results that warrant further discussion and investigation.	Control:129 control individuals;Case:71 obsessive compulsive disorder patients in the genetically homogeneous Afrikaner population										
134775		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Goudreau, J. L.  et al. 2002	12465073				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Midwestern United States	CDC GDPinfo	6531	Hs.406			Movement disorders. 2002 Nov;17(6):1305-11	Case-Control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease		126455	25554	2	2002	We found statistically significant associations of PD with MAO-B polymorphisms in older patients and with a COMT polymorphism in younger subjects and in women. These significant differences at the two-tailed alpha level of 0.05 and restricted to subgroup analyses may have a biological basis or may be chance findings.	Control:196 control subjects;Case:319 unrelated Parkinson's disease cases										
134776		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression	5	5p15.3	SLC6A3	1445908	1498543		Lynch, D. R.  et al. 2003	12815660				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Movement disorders. 2003 Jul;18(7):804-12	Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.		126455	25555	2	2003	These results demonstrate that these specific genetic variations do not alter the fidelity of (99)Tc-TRODAT-1 as a measure of dopaminergic function in asymptomatic volunteer individuals or patients with PD.	Case patients with Parkinsons' disease;Control asymptomatic volunteers										
134777		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543			16389711				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Encephale. 2005 Jul-Aug;31(4 Pt 1):437-47	[Meta-analysis of candidate genes in attention-deficit hyperactivity disorder]		126455	26575	2	2005												
134772		alcohol abuse	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Hopfer, C. J.  et al. 2005	15845322				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Drug and alcohol dependence. 2005 May;78(2):187-93	Genetic influences on quantity of alcohol consumed by adolescents and young adults.		126455	25551	2	2005	 Genetic influence on drinking behavior was common in adolescents longitudinally assessed 1 year apart, but was less correlated between these adolescents and their assessment as young adults at a subsequent time point. Polymorphisms in genes of the dopaminergic system appear to influence variation in drinking behavior.	Cohort 4,432 youth assessed during adolescence (mean age of 16) and then 1 and 6 years later 										
134773	N	P300 event-related potentials	NEUROLOGICAL	NEUR		5	5p15.3	SLC6A3	1445908	1498543		Tsai, S. J.  et al. 2003	12605102				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Psychiatric genetics. 2003 Mar;13(1):51-3	Association analysis for dopamine D3 receptor, dopamine D4 receptor and dopamine transporter genetic polymorphisms and P300 event-related potentials for normal young females.		126455	25552	2	2003	 Our negative findings suggest that these genetic polymorphisms do not play a major role in the modulation of P300 event-related potentials.	Cohort 120 normal young Han-Chinese females 										
134774		attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Bobb, A. J.  et al. 2004	15457500				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics. 2004 Sep;{}:	Molecular genetic studies of ADHD: 1991 to 2004.		126455	25553	2	2004	All candidate gene approaches continue to face the problem of relatively low power, given modest odds ratios for even the best replicated genes.	Control:controls;Case attention deficit hyperactivity disorder cases										
134769		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Todd, R. D.  et al. 2005	16178930				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		United States	CDC GDPinfo	6531	Hs.406			Journal of child psychology and psychiatry, and allied disciplines. 2005 Oct;46(10):1067-73	Collaborative analysis of DRD4 and DAT genotypes in population-defined ADHD subtypes.		126455	23461	2	2005	 Use of alternative population-based defined ADHD subtypes may help resolve some of the variable results presented for candidate gene association studies in ADHD.											
134770		attention deficit hyperactivity disorder	PSYCH	PSY	Mental Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Meulen, E. M.  et al. 2005	16178931				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Dutch		CDC GDPinfo	6531	Hs.406			Journal of child psychology and psychiatry, and allied disciplines. 2005 Oct;46(10):1074-80	High sibling correlation on methylphenidate response but no association with DAT1-10R homozygosity in Dutch sibpairs with ADHD.		126455	23462	2	2005	 The sibling correlation may indicate a familial clustering of methylphenidate response. This response is possibly associated with the presence of one or two alleles at the DRD4-7R locus, but not with DAT1-10R homozygosity in the Dutch population.											
134771		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Munafo, M.  et al. 2004	15370155				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Nicotine & tobacco research. 2004 Aug;6(4):583-97	The genetic basis for smoking behavior: asystematic review and meta-analysis.		126455	25550	2	2004	The evidence for a contribution of specific genes to smoking behavior remains modest. Implications for the design of future studies are discussed, such as the need for the development of more specific phenotypes to increase the genetic signal in candidate gene studies.	Cohort individuals from 28 studies on smoking behavior 										
134766		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Roman, T.  et al. 2001	11449401				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics. 2001 Jul;105(5):471-8	Attention-deficit hyperactivity disorder: a studyof association with both the dopamine transporter gene and the dopamine D4 receptor gene.		126455	23458	2	2001	These results add to the group of studies that together suggest a small effect of these genes in the susceptibility to ADHD	Control ethnically matched control sample;Case:81 Attention-deficit hyperactivity disorder children and adolescents and their parents:Brazil										
134767		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		DiMaio, S.  et al. 2003	12587848				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Journal of psychiatry & neuroscience. 2003 Jan;28(1):27-38	Dopamine genes and attention-deficit hyperactivity disorder: a review.		126455	23459	2	2003	 The implication of SLC6A3 and DRD4 genes in ADHD appears to be one of the most replicated in psychiatric genetics and strongly suggests the involvement of the brain dopamine systems in the pathogenesis of ADHD. However, more work is required to further these findings by genotype-to-phenotype correlations and identify the functional allelic variants/mutations that are responsible for these associations. The role of other dopamine genes, which may have smaller effects than SLC6A3 and DRD4, needs also to be determined.											
134768		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Durston, S.  et al. 2005	15724142				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2005 Jul;10(7):678-85	Differential effects of DRD4 and DAT1 genotype on fronto-striatal gray matter volumes in a sample of subjects with attention deficit hyperactivity disorder, their unaffected siblings, and controls.		126455	23460	2	2005	This demonstrates that, by constraining our investigations by prior knowledge of gene expression, including samples in which the distribution of phenotypic variance is wide and under heritable influences, and by using intermediate phenotypes, such as neuroimaging, we may begin to map out the pathways by which genes influence behavior.	Case subjects with attention deficit hyperactivity:disorder;Control:controls										
134763		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Qian, Q.  et al. 2004	15211638				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese	China	CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):84-9	Family-based and case-control association studies of DRD4 and DAT1 polymorphisms in Chinese attention deficit hyperactivity disorder patients suggest long repeats contribute to genetic risk for the disorder		126455	23455	2	2004	he long-repeat alleles of DRD4 (ranging from 4 to 6 repeats) and DAT1 (ranging from 11 to 12 repeats), were present more frequently in ADHD probands than controls (P < 0.05), although there was no significant allelic association when the alleles were analyzed separately from each other and there findings were not supported by within family tests of association. An exploratory stratification by gender suggests that long-repeat alleles of DRD4 and DAT1 may increase the risk for ADHD in Han Chinese children.	Control:226:controls;Case:340 Han Chinese attention deficit hyperactivity disorder cases										
134764		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit and Disruptive Behavior Disorders	5	5p15.3	SLC6A3	1445908	1498543		Kim, Y. S.  et al. 2005	16165273				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Korean	Korea	CDC GDPinfo	6531	Hs.406			Neuroscience letters. 2005 Dec;390(3):176-81	Family-based association study of DAT1 and DRD4 polymorphism in Korean children with ADHD.		126455	23456	2	2005												
134765		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	5	5p15.3	SLC6A3	1445908	1498543		Bau, C. H.  et al. 2001	11244477				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2001 Jan;6(1):9-Jul	DRD4 and DAT1 as modifying genes in alcoholism:interaction with novelty seeking on level of alcohol consumption		126455	23457	2	2001	The possible presence of an interaction effect between DRD4 and DAT1 gnotypes with novelty seeking on the level of consumption suggests that these genotypes may increase the alcohol-seeking behavior in high novelty seeking individuals, supporting that model.	Control:112:controls;Case:114:alcoholics										
134760		schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Szekeres, G.  et al. 2004	14681904				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):5-Jan	Role of dopamine D3 receptor (DRD3) and dopamine transporter (DAT) polymorphism in cognitive dysfunctions and therapeutic response to atypical antipsychotics in patients with schizophrenia.		126455	23452	2	2004	These results suggest that the S/S genotype of the DRD3 is associated with worse therapeutic response and more severe executive dysfunctions in patients with schizophrenia.	Cohort patients with schizophrenia 	clozapine olanzapine quetiapine risperidone									
134761		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Joober, R.  et al. 2000	11104840				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Journal of psychiatric research. 2000 Jul-Oct;34(5-Apr):285-91	DRD3 and DAT1 genes in schizophrenia: anassociation study		126455	23453	2	2000	 These results do not support the role of either of these genes in increasing susceptibility to schizophrenia or in modulating its phenotype in the studied population.	Case:42 two groups of schizophrenic patients, one of excellent neuroleptic responders and one of:nonresponders (N=64);Control:89 A group of healthy volunteers screened for major psychiatric disorders was also included	neuroleptic response									
134762		attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Qian, Q.  et al. 2003	12947560				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese		CDC GDPinfo	6531	Hs.406			Beijing da xue xue bao Yi xue ban. 2003 Aug;35(4):412-8	[Association studies of dopamine D4 receptor gene and dopamine transporter gene polymorphisms in Han Chinese patients with attention deficit hyperactivity disorder]		126455	23454	2	2003	 The long-repeat alleles of DRD4 (after a stratification by gender) and DAT1 may increase the risk for ADHD in Han Chinese children.	Control:226 unrelated controls;Case:340 Chinese attention deficit hyperactivity disorder:children										
134757		smoking behavior	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Lerman, C.  et al. 2003	14570538				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Health psychology. 2003 Sep;22(5):541-8	Effects of dopamine transporter and receptor polymorphisms on smoking cessation in a bupropion clinical trial.		126455	23449	2	2003	These results provide the first evidence from a prospective clinical trial that genes that alter dopamine function may influence smoking cessation and relapse during the treatment phase.	Cohort 418 smokers of European ancestry 	bupropion									
134758		smoking behavior	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Erblich, J.  et al. 2005	15381926				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	African American		CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2005 Apr;10(4):407-14	Effects of dopamine D2 receptor (DRD2) and transporter (SLC6A3) polymorphisms on smoking cue-induced cigarette craving among African-American smokers.		126455	23450	2	2005												
134759		smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease|Depressive Disorder	5	5p15.3	SLC6A3	1445908	1498543		Audrain-McGovern, J.  et al. 2004	15229055				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Virginia	CDC GDPinfo	6531	Hs.406			The American journal of psychiatry. 2004 Jul;161(7):1224-30	Interacting effects of genetic predisposition and depression on adolescent smoking progression.		126455	23451	2	2004	 These results provide the first evidence, to the authors' knowledge, for an association of the DRD2 A1 allele with smoking progression among adolescents. This effect is potentiated by depression symptoms. These effects appear to be specific to adolescents who have had at least some nicotine exposure (i.e., at least a puff of a cigarette).	Cohort 615 adolescents, including those who had never smoked, and in a subgroup including only adolescents who had been exposed to nicotine (i.e., smoked at least a puff of a cigarette) (N=292) 										
134754		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	5	5p15.3	SLC6A3	1445908	1498543		Choi, I. G.  et al. 2005	16125912				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			European neuropsychopharmacology. 2006 Feb;16(2):123-8	Genetic polymorphisms of alcohol and aldehyde dehydrogenase, dopamine and serotonin transporters in familial and non-familial alcoholism.		126455	23446	2	2005			family history									
134755		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Chen, W. J.  et al. 2001	11807408				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese	China	CDC GDPinfo	6531	Hs.406			Psychiatric genetics. 2001 Dec;11(4):187-95	Genetic polymorphisms of the promoter region of dopamine D2 receptor and dopamine transporter genes and alcoholism among four aboriginal groups and Han Chinese in Taiwan.		126455	23447	2	2001	The results suggest that both the DRD2 promoter region and the DAT gene do not play a significant role in conferring vulnerability to alcoholism.	Case:203 alcohol dependents with withdrawal symptoms among four aboriginal groups (Atayal, Ami, Bunun, and Paiwan) and Han Chinese in Taiwan.:Taiwan;Control:213 sex- and ethnicity-matched individuals who were screened to exclude those with alcohol problems among four aboriginal groups (Atayal, Ami, Bunun, and Paiwan) and Han Chinese in Taiwan.										
134756		schizophrenia; opium abuse	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Vieyra, G.  et al. 2003	12708251				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Rev Med Chil. 2003 Feb;131(2):135-43	[Distribution of DRD4 and DAT1 alleles from dopaminergic system in a mixed Chilean population]		126455	23448	2	2003	In a Chilean population sample, the frequency of DRD4 and DAT1 alleles was very similar to that of European populations.	Cohort 100 blood donors in two public hospitals in Santiago Santiago, Chile 										
134750		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Bellgrove, M. A.  et al. 2005	16168728				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuropsychologia. 2005 ;43(13):1847-57	Dissecting the attention deficit hyperactivity disorder (ADHD) phenotype: sustained attention,response variability and spatial attentional asymmetries in relation to dopamine transporter (DAT1) genotype.		126455	19537	2	2005												
134751		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	5	5p15.3	SLC6A3	1445908	1498543		Greenwood, T. A.  et al. 2005	16261167				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2006 Feb;11(2):125-33	Identification of additional variants within the human dopamine transporter gene provides further evidence for an association with bipolar disorder in two independent samples.		126455	19538	2	2005												
134752		attention deficit hyperactivity disorder	PSYCH	PSY	Impulse Control Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543			16368111				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Journal of psychiatric research. 2005	The dopamine transporter gene and the impulsivity phenotype in attention deficit hyperactivity disorder: A case-control association study in aKorean sample		126455	19539	2	2005												
134747	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Kelada, S. N.  et al. 2005	16041244				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Pharmacogenetics and genomics. 2005 Sep;15(9):659-68	Dopamine transporter (SLC6A3) 5' region haplotypes significantly affect transcriptional activity in vitro but are not associated with Parkinson's disease.		126455	19534	2	2005	We conclude that  although DAT 5' region SNPs haplotypes significantly alter in vitro transcriptional activity, they are not related to PD risk. In addition, our findings provide further evidence supporting an association of PD with the VNTR polymorphism.											
134748	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Langley, K.  et al. 2005	16082688				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):10-Jul	No support for association between the dopamine transporter (DAT1) gene and ADHD.		126455	19535	2	2005	We conclude that  the 3' VNTR and three additional promoter variants in DAT1 do not appear to be associated with ADHD, or response to stimulant mediation in our sample.		stimulant									
134749	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Bellgrove, M. A.  et al. 2005	16123773				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuropsychopharmacology. 2005 Dec;30(12):2290-7	Association between dopamine transporter (DAT1) genotype, left-sided inattention, and an enhanced response to methylphenidate in attention-deficit hyperactivity disorder.		126455	19536	2	2005												
134743	Y	drug hypersensitivity	METABOLIC	MET		5	5p15.3	SLC6A3	1445908	1498543		Lott, D. C.  et al. 2004	15602501				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuropsychopharmacology. 2005 Mar;30(3):602-9	Dopamine transporter gene associated with diminished subjective response to amphetamine.		126455	19530	2	2004	The current findings have important implications for understanding the genetic determinants of variability in stimulant response and risk of abuse.	Cohort 96 healthy adult volunteers 	amphetamine									
134744		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Cornish, K. M.  et al. 2005	15809660				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2005 Jul;10(7):686-98	Association of the dopamine transporter (DAT1) 10/10-repeat genotype with ADHD symptoms and response inhibition in a general population sample.		126455	19531	2	2005	The results suggest that DAT1 is a QTL for continuously distributed ADHD behaviours in the general population and the cognitive endophenotype of response inhibition.	Case:58 boys recruited from an epidemiological sample of 872 boys aged 6-11 years who scored above 90th percentile for teacher reported ADHD symptoms;Control:68 boys scoring below the 10th percentile										
134745		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Stein, M. A.  et al. 2005	15827573				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuropsychopharmacology. 2005 Jul;30(7):1374-82	Dopamine transporter genotype and methylphenidate dose response in children with ADHD.		126455	19532	2	2005	Further research is needed to determine the mechanisms related to poor response in patients with the 9/9-repeat genotype, and to determine if this group responds differentially to alternative treatments.	Cohort 47 children with attention deficit hyperactivity disorder,, ages 5-16 years (mean=9.02 years) 	methylphenidate									
134740		behavioral disorder	OTHER	OTH	Prenatal Exposure Delayed Effects|Attention Deficit and Disruptive Behavior Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Kahn, R. S.  et al. 2003	12915833				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			The Journal of pediatrics. 2003 Jul;143(1):104-10	Role of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive, and oppositional behaviors		126455	19524	2	2003	 Child hyperactivity-impulsivity and oppositional behaviors were associated with a DAT polymorphism but only when the child also had exposure to maternal prenatal smoking. This study emphasizes the importance of incorporating environmental cofactors in genetic studies of attention deficit hyperactivity disorder.	Cohort 161 children was followed prospectively from age 6 months to 60 months 	smoking (tobacco), maternal									
134741		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Oh, K. S.  et al. 2003	14584093				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Korean		CDC GDPinfo	6531	Hs.406			Yonsei medical journal. 2003 Oct;44(5):787-92	Dopamine transporter genotype influences the attention deficit in Korean boys with ADHD.		126455	19525	2	2003	This study found that the 10/10 genotype made less omission errors on the T.O.V.A. This suggests that the dopamine transporter genotype influences the attention deficits measured by T.O.V.A.	Cohort 44 unrelated attention deficit hyperactivity disorder patients recruited from the psychiatric outpatients' clinic at Kangbuk Samsung Hospital Korea 										
134742		depression; alcohol withdrawal	PSYCH	PSY	Alcoholism	5	5p15.3	SLC6A3	1445908	1498543		Heinz, A.  et al. 2004	15148564				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Psychopharmacology. 2004 Aug;174(4):561-70	Pharmacogenetic insights to monoaminergic dysfunction in alcohol dependence.		126455	19526	2	2004	 Genetic constitution interacts with the in vivo availability of central dopamine and serotonin transporters during alcohol detoxification and may affect the severity of alcohol withdrawal and clinical depression.	Case detoxified alcoholics;Control healthy controls										
134737		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Epstein, L. H.  et al. 2002	12490667				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		United States	CDC GDPinfo	6531	Hs.406			Obesity research. 2002 Dec;10(12):1232-40	Dopamine transporter genotype as a risk factor for obesity in African-American smokers.		126455	19520	2	2002	These results suggest that variants of the dopamine transporter gene may be related to obesity in African-American smokers. Possible mechanisms responsible for the association between dopamine transport and obesity in African-American smokers are discussed.	Cohort 510 smokers of African-American (n=90) and non-Hispanic Caucasians (n=420) 										
134738		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Lin, J. J.  et al. 2003	12686408				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Taiwan	CDC GDPinfo	6531	Hs.406			Journal of the neurological sciences. 2003 May;209(2-Jan):87-92	The homozygote 10-copy genotype of variable number tandem repeat dopamine transporter gene may confer protection against Parkinson's disease for male, but not to female patients.		126455	19521	2	2003	In conclusion, the results of our study show that homozygote 10-copy genotype of the VNTR polymorphism within the DAT may confer a protective factor for male PD patients, but not for female PD patients.	Case:193 sporadic Parkinson's disease patients;Control:254 controls, matched by age and sex										
134739		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Smith, K. M.  et al. 2003	12707943				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Wisconsin	CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 May;119(1):77-85	Association of the dopamine beta hydroxylase gene with attention deficit hyperactivity disorder:genetic analysis of the Milwaukee longitudinal study.		126455	19522	2	2003	These results indicate that the DBH TaqI A allele, or another polymorphism in linkage disequilibrium with this allele, may confer increased susceptibility towards ADHD.	Case:158 Attention deficit hyperactivity disorder adult subjects followed longitudinally since childhood in the Milwaukee study;Control:81 control adult subjects										
134734		attention deficit disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Roman, T.  et al. 2002	12172219				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Pharmacogenetics. 2002 Aug;12(6):497-9	Dopamine transporter gene and response to methylphenidate in attention-deficit/hyperactivity disorder.		126455	19517	2	2002	Our findings support an association between homozygosity for the 10-repeat allele at dopamine transporter gene locus and poor response to MPH.	Cohort 50 male ADHD youths 	methylphenidate									
134735	Y	post-traumatic stress disorder	PSYCH	PSY	Stress Disorders, Post-Traumatic	5	5p15.3	SLC6A3	1445908	1498543		Segman, R. H.  et al. 2002	12232785				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Molecular psychiatry. 2002 ;7(8):903-7	Association between the dopamine transporter gene and posttraumatic stress disorder.		126455	19518	2	2002	These findings suggest that genetically determined changes in dopaminergic reactivity may contribute to the occurrence of PTSD among trauma survivors.	Case:102 chronic PTSD patients;Control:104 carefully-documented trauma survivors (TS) who did not develop PTSD										
134736		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Wernicke, C.  et al. 2002	12401557				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	German	Germany	CDC GDPinfo	6531	Hs.406			Neuroscience letters. 2002 Nov;333(1):45-8	Evidence for the importance of the human dopamine transporter gene for withdrawal symptomatology of alcoholics in a German population.		126455	19519	2	2002	Our findings provide further evidence that the 3'UTR of the DAT1 gene affects vulnerability to severe alcohol withdrawal.	Case:alcoholics;Control:control	family history									
134730	Y	dopamine transporter availability	UNKNOWN	UNK		5	5p15.3	SLC6A3	1445908	1498543		van Dyck, C. H.  et al. 2005	15872345	9 repeat			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	European American		CDC GDPinfo	6531	Hs.406			Journal of nuclear medicine. 2005 May;46(5):745-51	Increased Dopamine Transporter Availability Associated with the 9-Repeat Allele of the SLC6A3 Gene		126455	13826	2	2005	 These results support the interpretation of higher DAT levels in association with the *9R allele in European Americans and may relate to previously observed associations between DAT genotype and neuropsychiatric diseases.	Cohort 96 healthy European Americans (age range, 18-88 y) 										
134732		suicide; heroin abuse	PSYCH	PSY	Heroin Dependence|Antisocial Personality Disorder	5	5p15.3	SLC6A3	1445908	1498543		Gerra, G.  et al. 2005	16109590				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Addiction biology. 2005 Sep;10(3):275-81	Allelic association of a dopamine transporter gene polymorphism with antisocial behaviour in heroin-dependent patients.		126455	13828	2	2005												
134733		schizophrenia; methamphetamine abuse	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Simsek, M.  et al. 2005	16201143				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Human biology; an international record of research. 2005 Apr;77(2):281-6	DAT1 VNTR allele frequencies in the Omani population.		126455	13830	2	2005												
134727	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Cordeiro, Q.  et al. 2004	15608954				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Brazil	CDC GDPinfo	6531	Hs.406			Arquivos de neuro-psiquiatria. 2004 Dec;62(4):973-6	Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample		126455	13823	2	2004	Thus, our results do not support an association of the SLC6A3 VNTR with schizophrenia in our sample.	Case:220 schizophrenic patients;Control:226 gender and ethnic matched controls										
134728		bipolar disorder	PSYCH	PSY	Bipolar Disorder	5	5p15.3	SLC6A3	1445908	1498543		Keikhaee, M. R.  et al. 2005	15768394	(DAT1)-67A/T			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Iranian		CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):47-9	Association analysis of the dopamine transporter (DAT1)-67A/T polymorphism in bipolar disorder.		126455	13824	2	2005	For the first time, these findings provide tentative evidence of the contribution of the DAT1 gene core promoter polymorphism to the etiopathophysiology of bipolar disorder at least in the Iranian population that we have studied. Interestingly, no allelic or genotype association was observed in the female patients (P	Case:136 Iranian bipolar disorder patients;Control:163 controls matched on sex, age and ethnicity										
134729		delusional disorder	PSYCH	PSY	Delirium	5	5p15.3	SLC6A3	1445908	1498543		Kim, J. Y.  et al. 2005	15823165				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Korea	CDC GDPinfo	6531	Hs.406			Psychiatry and clinical neurosciences. 2005 Apr;59(2):183-8	Antipsychotics and dopamine transporter gene polymorphisms in delirium patients.		126455	13825	2	2005	The response rates at the 3rd and 7th days after medication did not differ with either the drug group or the dopamine transporter polymorphism. Relatively low doses of risperidone and haloperidol exhibited similar efficacies, and dopamine transporter polymorphisms do not appear to play a major role in the action of antipsychotics on delirium.	Cohort 42 delerium patients 	haloperidol risperidone									
134724		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Jeong, S. H.  et al. 2004	15380858				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Korean	Korea	CDC GDPinfo	6531	Hs.406			Progress in neuro-psychopharmacology & biological psychiatry. 2004 Sep;28(6):975-83	Association study of dopamine transporter gene and schizophrenia in Korean population using multiple single nucleotide polymorphism markers		126455	13819	2	2004	In accordance with the previous literature, we could not find any evidence of association between DAT1 gene and schizophrenia. This result acquired more certainty because not only the VNTR but several SNPs present in DAT1 gene and newly constructed haplotypes were also used as additional markers. However, the finding of weak association between one of the SNP markers (1398C>T) and the specific subgroups of schizophrenia patients added further support to the importance of defining more homogenous subgroups in association studies.	Case:252 schizophrenic patients:Korea;Control:271:controls										
134725	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Gamma, F.  et al. 2005	15567077	40 bp			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Schizophrenia research. 2005 Feb;73(1):55-8	Meta-analysis shows schizophrenia is not associated with the 40-base-pair repeat polymorphism of the dopamine transporter gene.		126455	13821	2	2005	 Despite over 90% power to detect a significant odds ratio as small as 1.3, no association was observed. Considering the cumulative evidence from six case-control studies and results from additional family-based studies, it seems unlikely that the 40-base-pair VTNR polymorphism of the SLC6A3 gene influences risk for schizophrenia.	Control controls from six case-control studies;Case schizophrenic patients from six case-control:studies										
134726	N	attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Qian, Q. J.  et al. 2004	15605097	G352A			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese		CDC GDPinfo	6531	Hs.406			Beijing da xue xue bao Yi xue ban. 2004 Dec;36(6):626-9	[Association studies of G352A polymorphism of dopamine transporter gene in Han Chinese attention deficit hyperactivity disorder patients.]		126455	13822	2	2004	 There is no association between G352A, the new polymorphism, in exon 15 of DAT1 and ADHD. The 352G allele has a tendency to be preferentially transmitted to ADHD girls, but the findings require replication before drawing a definitive conclusion.	Control:207 unrelated controls;Case:337 Han Chinese attention deficit hyperactivity:disorder										
134721		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Contin, M.  et al. 2004	15190232				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Clinical neuropharmacology. 2004 May-Jun;27(3):111-5	Dopamine transporter gene polymorphism, spect imaging, and levodopa response in patients with Parkinson disease.		126455	13816	2	2004	 The study did not identify clinically relevant in vivo DAT neurochemical function phenotypes or levodopa response patterns associated with the DAT polymorphism.	Cohort 36 patients with Parkinson's disease 										
134722		alcohol withdrawal	CHEMDEPENDENCY	CHEM	Hallucinations|Alcohol Withdrawal Delirium|Alcoholism	5	5p15.3	SLC6A3	1445908	1498543		Limosin, F.  et al. 2004	15193761				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuroscience letters. 2004 May;362(2):91-4	The A9 allele of the dopamine transporter gene increases the risk of visual hallucinations during alcohol withdrawal in alcohol-dependent women.		126455	13817	2	2004	Our results suggest that the A9 allele of the DAT gene is involved in vulnerability to alcohol withdrawal complications in women, but that these complications differ from those associated with this polymorphism in alcohol-dependent men.	Cohort 64 Caucasian alcohol-dependent women with a history of alcohol withdrawal complications France 										
134723		schizophrenia	PSYCH	PSY	Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Khodayari, N.  et al. 2004	15274029			promoter	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Iranian		CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):2-Oct	Association of the dopamine transporter gene (DAT1) core promoter polymorphism -67T variant with schizophrenia.		126455	13818	2	2004	For the first time, these findings provide tentative evidence for the contribution of the DAT1 gene core promoter polymorphism to the etiopathophysiology of schizophrenia at least in the Iranian male population that we studied. Replication studies of independent samples and family-based association studies are necessary to further evaluate the significance of our findings.	Control:100 controls matched on the basis of sex, age, and:ethnicity;Case:100 schizophrenic patients										
134718		psychosis	PSYCH	PSY	Psychoses, Substance-Induced|Amphetamine-Related Disorders|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Ujike, H.  et al. 2003	12931138				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			The pharmacogenomics journal. 2003 ;3(4):242-7	Nine- or fewer repeat alleles in VNTR polymorphism of the dopamine transporter gene is a strong risk factor for prolonged methamphetamine psychosis		126455	13811	2	2003	The present study demonstrated that the presence of nine- or fewer repeat alleles of hDAT1 is a strong risk factor for a worse prognosis of METH psychosis.	Case:124 METH dependence/psychosis patients;Control:160:controls										
134719	Y	eating behavior	OTHER	OTH	Bulimia|Eating Disorders	5	5p15.3	SLC6A3	1445908	1498543		Shinohara, M.  et al. 2004	15069467			3' UTR	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Journal of psychiatry & neuroscience. 2004 Mar;29(2):134-7	Eating disorders with binge-eating behaviour are associated with the s allele of the 3'-UTR VNTR polymorphism of the dopamine transporter gene		126455	13814	2	2004	 It seems plausible that the association between the DAT1 VNTR and binge-eating behaviour indicates that dysregulation of dopamine reuptake may act as a common pathophysiologic mechanism in eating disorders with binge-eating behaviour and in disorders related to substance use.	Control:115 healthy female controls;Case:90 female Japanese patients with eating disorders										
134720		schizophrenia; methamphetamine abuse	PSYCH	PSY	Psychoses, Substance-Induced|Amphetamine-Related Disorders|Acute Disease|Chronic Disease	5	5p15.3	SLC6A3	1445908	1498543		Liu, H. C.  et al. 2004	15091313				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		China|Taiwan	CDC GDPinfo	6531	Hs.406			Psychiatric genetics. 2004 Mar;14(1):33-7	DAT polymorphism and diverse clinical manifestations in methamphetamine abusers.		126455	13815	2	2004	No significant associations were demonstrated between this DAT polymorphism in genotype and allele frequency and the clinical outcome of MAP abusers. The biological relevance of the variable number tandem repeat polymorphism in the 3'-untranslated region of DAT in MAP abusers was not demonstrated in this study.	Case:146/79 methamphetamine abusers (n=146) and schizophrenics:(n=79);Control:72 healthy controls										
134715	Y	suicide	PSYCH	PSY	Impulse Control Disorders|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Bayle, F. J.  et al. 2003	12707931				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 May;119(1):13-7	5HTTLPR polymorphism in schizophrenic patients:further support for association with violent suicide attempts.		126455	13806	2	2003	Although replication studies are warranted, these results in schizophrenia further support the hypothesis that 5HTTLPR polymorphism is a risk factor for violent suicidal behavior.	Control:159 gender and ethnically matched controls;Case:185 unrelated schizophrenic patients from a French Caucasian population										
134716		attention deficit hyperactivity disorder	PSYCH	PSY	Cognition Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Loo, S. K.  et al. 2003	12874502				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Journal of the American Academy of Child and Adolescent Psychiatry. 2003 Aug;42(8):986-93	Functional effects of the DAT1 polymorphism on EEG measures in ADHD.		126455	13809	2	2003	 The data suggest that the DAT1 polymorphism mediates medication-related changes in cortical activity among children with ADHD.	Cohort children with attention deficit hyperactivity disorder 	methylphenidate									
134717		attention deficit hyperactivity disorder	OTHER	OTH	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Kirley, A.  et al. 2003	12898575	480 bp			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Irish		CDC GDPinfo	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):50-4	Association of the 480 bp DAT1 allele with methylphenidate response in a sample of Irish children with ADHD.		126455	13810	2	2003	Our findings suggest a role for the 10-repeat DAT1 risk allele in medication response and may help to predict positive clinical outcome in ADHD.	Cohort 119 Irish children with ADHD 	methylphenidate									
134712		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Susceptibility	5	5p15.3	SLC6A3	1445908	1498543		Lin, C. N.  et al. 2002	12422069	(1215A/G).			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			European neurology. 2002 ;48(4):207-9	Association study for Parkinson's disease and a dopamine transporter gene polymorphism (1215A/G).		126455	13802	2	2002	Our findings confirm those of the previous negative report and, taken together, suggest that the DAT polymorphism (1215A/G) does not play a major role in the susceptibility to PD. Other DAT genetic variants, and the association of these variants with PD symptomatology or treatment response, may merit further investigation.	Case:102 Parkinson's disease patients;Control:174:controls										
134713	Y	delirium tremens, alcohol-induced; alcohol withdrawal	CHEMDEPENDENCY	CHEM	Seizures|Alcohol Withdrawal Delirium|Substance Withdrawal Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Gorwood, P.  et al. 2003	12513948				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Biological psychiatry. 2003 Jan;53(1):85-92	The A9 allele of the dopamine transporter gene is associated with delirium tremens and alcohol-withdrawal seizure		126455	13804	2	2003	 This study provides convergent data in favor of a significant role of the DAT gene in the risk for some severe withdrawal symptoms. If further replicated in larger samples, the DAT genetic polymorphism could be one of the factors to be analyzed to further assess the risk of some severe alcohol-withdrawal symptoms.	Cohort 120 alcohol-dpendent patients 										
134714	N	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	5	5p15.3	SLC6A3	1445908	1498543		Hong, C. J.  et al. 2003	12658362				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese		CDC GDPinfo	6531	Hs.406			J Neural Transm. 2003 Apr;110(4):345-51	Association study of the dopamine and serotonin transporter genetic polymorphisms and methamphetamine abuse in Chinese males.		126455	13805	2	2003	The findings of this study suggest that these polymorphisms do not play major roles in METH dependence in the Chinese-male population.	Case Chinese male methamphetamine dependent cases;Control:controls										
134709		opiate abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	5	5p15.3	SLC6A3	1445908	1498543		Galeeva, A. R.  et al. 2002	12173460				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Russian		CDC GDPinfo	6531	Hs.406			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):593-8	[VNTR polymorphisms of the serotonin transporter and dopamine transporter genes in male opiate addicts]		126455	13799	2	2002	Thus, our results implicate the serotonin and dopamine transporters in early opiate abuse in male Russians and Tatars, and allow the following	Control:110 healthy men (56 Russians and 54 Tatars) of the same age who had no psychiatric or narcological record and denied the abuse of psychoactive drugs;Case:177 men (94 Russians and 83 Tatars) treated for opiate:addition										
134710		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Nishimura, M.  et al. 2002	12210886				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Japan	CDC GDPinfo	6531	Hs.406			Movement disorders. 2002 Jul;17(4):831-2	Association between dopamine transporter gene polymorphism and susceptibility to Parkinson's disease in Japan.		126455	13800	2	2002	The 1215A/G genotype of the DAT gene was significantly different between PD patients and controls, suggesting a possible involvement of DAT in genetic susceptibility to PD.	Control:220:controls;Case:236 Japanese patients with Parkinson's disease										
134711	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	5	5p15.3	SLC6A3	1445908	1498543		Vandenbergh, D. J.  et al. 2002	12215242				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Nicotine & tobacco research. 2002 Aug;4(3):333-40	Smoking status and the human dopamine transporter variable number of tandem repeats (VNTR) polymorphism: failure to replicate and finding thatnever-smokers may be different.		126455	13801	2	2002	When we distinguish between never-smokers (no cigarettes ever) and non-smokers (1-99 in lifetime), we find a reliable trend essentially in the opposite direction from Lerman et al. (1999), with the 10-copy allele being more frequent in never-smokers. Biobehavioral research on cigarette smoking should distinguish between never- and non-smokers. We have also developed an improved set of polymerase chain reaction conditions to increase the frequency of successful amplification of DAT'sw VNTR, which is a long, G+C-rich repeat.	Cohort A subset from 3383 adult volunteers contacted via a random-digit dialing telephone interview 										
134706	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Zhang, L.  et al. 2001	11774209				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6):431-4	[Association between dopamine transporter gene polymorphism and Parkinson's disease]		126455	13795	2	2001	 The findings not only support an association between DAT gene and PD but also suggest the relationship of the 3'VNTR polymorphism of DAT gene with the age at the onset of PD.	Case:128 Parkinson's disease patients;Control:85 normal controls										
134707		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Wang, J.  et al. 2000	11798784				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Zhonghua yi xue za zhi. 2000 May;80(5):346-8	[Association between genetic polymorphism of dopamine transporter gene and susceptibility to Parkinson's disease]		126455	13796	2	2000	 DAT 3' VNTR 11-copy allele is a genetic factor susceptible to PD in the population tested.	Case:171 Parkinson's disease patients;Control:180 unrelated healthy controls										
134708	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Retz, W.  et al. 2002	11834311			promoter	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Neuroscience letters. 2002 Feb;319(3):133-6	Association of attention deficit hyperactivity disorder-related psychopathology and personality traits with the serotonin transporter promoter region polymorphism.		126455	13798	2	2002	Thus, our study supports the recently reported finding of an association of the 5-HTT polymorphism with ADHD. However, since a dimensional assessment of ADHD-related symptomatology was used in our study instead of a diagnostic approach, we are now on the way in performing further studies regarding diagnostic discrimination and comorbidity.	Cohort not specified in abstract 										
134703	Y	externalizing behavior problems; hyperactivity	PSYCH	PSY	Child Behavior Disorders	5	5p15.3	SLC6A3	1445908	1498543		Jorm, A. F.  et al. 2001	11378848				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			American journal of medical genetics. 2001 May;105(4):346-50	Association of a polymorphism of the dopamine transporter gene with externalizing behavior problems and associated temperament traits: alongitudinal study from infancy to the mid-teens.		126455	13792	2	2001	No significant associations were found at any age. There are a number of methodological differences from earlier studies that might explain the lack of associations with hyperactivity. It is also possible that the earlier findings are not replicable	Cohort 660 children who had been assessed for temperament from 4-8 months to 15-16 years, and for behavior problems from 3-4 to 15-16 years 										
134704		alcohol dependence; alcoholic psychosis	CHEMDEPENDENCY	CHEM	Psychoses, Alcoholic|Acute Disease	5	5p15.3	SLC6A3	1445908	1498543		Galeeva A.R.  et al. 2001	11505915				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Russia	CDC GDPinfo	6531	Hs.406			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2001 ;101(5):43-5	[The evaluation of VNTR-polymorphism in the gene of dopamine transporter in men of different nationalities with acute alcoholic psychosis]		126455	13793	2	2001	There was association between an allele variant with 9 units of DAT gene repetition (in homozygous state first of all), and early development of alcoholic dependence and acute alcoholic psychosis.											
134705	N	attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Galeeva, A. R.  et al. 2001	11558224				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Genetika. 2001 Jul;37(7):1018-20	[Polymorphism of the dopamine transporter gene in populations of the Volga-Ural region]		126455	13794	2	2001	Statistically significant differences in the dopamine transporter gene allele and genotype frequency distribution were revealed both between the populations belonging to one ethnic group and between the populations from different linguistic families.	Cohort populations of the Volga-Ural region 										
134700	Y	posttraumatic stress disorder	PSYCH	PSY	Stress Disorders, Post-Traumatic	5	5p15.3	SLC6A3	1445908	1498543		Segman RH et al. 2002	12232785				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406			Molecular psychiatry. 2002 ;7(8):903-7	Association between the dopamine transporter gene and posttraumatic stress disorder.		126455	7671	1	2002	These findings suggest that genetically determined changes in dopaminergic reactivity may contribute to the occurrence of PTSD among trauma survivors.	Case:102 chronic PTSD patients;Control:104 carefully-documented trauma survivors (TS) who did not develop PTSD										
134701	Y	externalizing behavior problems and associated temperament traits	PSYCH	PSY	Child Behavior Disorders	5	5p15.3	SLC6A3	1445908	1498543		Jorm AF et al. 2001	11378848				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406			American journal of medical genetics. 2001 May;105(4):346-50	Association of a polymorphism of the dopamine transporter gene with externalizing behavior problems and associated temperament traits: a longitudinal study from infancy to the mid-teens.		126455	7673	1	2001	No significant associations were found at any age. There are a number of methodological differences from earlier studies that might explain the lack of associations with hyperactivity. It is also possible that the earlier findings are not replicable	Cohort 660 children who had been assessed for temperament from 4-8 months to 15-16 years, and for behavior problems from 3-4 to 15-16 years										
134702	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Kimura, M.  et al. 2001	11220753	(1215A/G)			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Annals of neurology. 2001 Feb;49(2):276-7	No evidence of association between a dopamine transporter gene polymorphism (1215A/G) and Parkinson's disease.		126455	13791	2	2001	The results of this study confirm our previous findings on the 40-bp VNTR, namely, that the repeat number distribution of this polymorphism does not differ between PD patients and healthy control subjects. The consistency of our results may be supported by the fact that the two polymorphisms examined in this study were almonst in complete linkage disequilibrium. Taken together, these results strongly suggest that the 1215A/G polymorphism and the nearby loci of the DAT gene do not alter susceptibility to idiopathic PD.	Case:204 Japanese patients with idiopathic PD:Japan;Control:300 age- and gender-matched normal control subjects										
134697	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543	n	Kimura M et al. 2001	11220753				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406			Annals of neurology. 2001 Feb;49(2):276-7	No evidence of association between a dopamine transporter gene polymorphism (1215A/G) and Parkinson's disease.		126455	7660	1	2001	The results of this study confirm our previous findings on the 40-bp VNTR, namely, that the repeat number distribution of this polymorphism does not differ between PD patients and healthy control subjects. The consistency of our results may be supported by the fact that the two polymorphisms examined in this study were almonst in complete linkage disequilibrium. Taken together, these results strongly suggest that the 1215A/G polymorphism and the nearby loci of the DAT gene do not alter susceptibility to idiopathic PD.	Case:204 Japanese patients with idiopathic PD:Japan;Control:300 age- and gender-matched normal control subjects										
134698	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Nishimura M et al. 2002	12210886				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Japan	KGB	6531	Hs.406			Movement disorders. 2002 Jul;17(4):831-2	Association between dopamine transporter gene polymorphism and susceptibility to Parkinson's disease in Japan.		126455	7661	1	2002	The 1215A/G genotype of the DAT gene was significantly different between PD patients and controls, suggesting a possible involvement of DAT in genetic susceptibility to PD.	Control:220:controls;Case:236 Japanese patients with Parkinson's disease										
134699		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Susceptibility	5	5p15.3	SLC6A3	1445908	1498543		Lin CN et al. 2002	12422069				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406			European neurology. 2002 ;48(4):207-9	Association study for Parkinson's disease and a dopamine transporter gene polymorphism (1215A/G).		126455	7664	1	2002	Our findings confirm those of the previous negative report and, taken together, suggest that the DAT polymorphism (1215A/G) does not play a major role in the susceptibility to PD. Other DAT genetic variants, and the association of these variants with PD symptomatology or treatment response, may merit further investigation.	Case:102 Parkinson's disease patients;Control:174:controls										
134693	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations	5	5p15.3	SLC6A3	1445908	1498543	n	Wang J 2004	14732464	3?-UTR 40 bp VNTR			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Chinese		KGB	6531	Hs.406	visual hallucinations		Neuroscience letters. 2004 Jan;355(3):193-6	Polymorphisms of dopamine receptor and transporter genes and hallucinations in Parkinson's disease.		126455	5451	1	2004												
134694		alcoholism	CHEMDEPENDENCY	CHEM	Seizures|Delirium|Alcoholism|Substance Withdrawal Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Franke P et al. 1999	10088054				solute carrier family 6 (neurotransmitter transporter, dopamine), member 3				KGB	6531	Hs.406			Biological psychiatry. 1999 Mar;45(5):652-4	DAT1 gene polymorphism in alcoholism: a family-based association study.		126455	5452	1	1999	 Based on our data, the impact of the 9-repeat allele of the dopamine transporter gene in alcoholism and the severity of alcohol withdrawal symptoms is putatively not substantial.											
134695	Y	methylphenidate response	OTHER	OTH	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Kirley A 2003	12898575				solute carrier family 6 (neurotransmitter transporter, dopamine), member 3				KGB	6531	Hs.406			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):50-4	Association of the 480 bp DAT1 allele with methylphenidate response in a sample of Irish children with ADHD.		126455	5453	1	2003			methylphenidate									
134696	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5p15.3	SLC6A3	1445908	1498543		Zhang L et al. 2001	11774209				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6):431-4	Association between dopamine transporter gene polymorphism and Parkinson's disease		126455	7657	1	2001	 The findings not only support an association between DAT gene and PD but also suggest the relationship of the 3'VNTR polymorphism of DAT gene with the age at the onset of PD.	Case:128 Parkinson's disease patients;Control:85 normal controls										
134690	Y	Child hyperactivity-impulsivity and oppositional behaviors	OTHER	OTH	Prenatal Exposure Delayed Effects|Attention Deficit and Disruptive Behavior Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Kahn RS 2003	12915833				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			KGB	6531	Hs.406	smoking		The Journal of pediatrics. 2003 Jul;143(1):104-10	Role of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive~~~ and oppositional behaviors.		126455	5448	1	2003	 Child hyperactivity-impulsivity and oppositional behaviors were associated with a DAT polymorphism but only when the child also had exposure to maternal prenatal smoking. This study emphasizes the importance of incorporating environmental cofactors in genetic studies of attention deficit hyperactivity disorder.	Cohort 161 children was followed prospectively from age 6 months to 60 months	smoking (tobacco), maternal									
134691		smoking	OTHER	OTH	Tobacco Use Disorder|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Ling D 2004	14685824				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		China	KGB	6531	Hs.406			Journal of human genetics. 2004 ;49(1):35-9	Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence.		126455	5449	1	2004												
134692		Eating disorder	OTHER	OTH	Bulimia|Eating Disorders	5	5p15.3	SLC6A3	1445908	1498543		Shinohara M 2004	15069467	3'-UTR VNTR			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Japanese		KGB	6531	Hs.406			Journal of psychiatry & neuroscience. 2004 Mar;29(2):134-7	Eating disorders with binge-eating behaviour are associated with the s allele of the 3'-UTR VNTR polymorphism of the dopamine transporter gene.		126455	5450	1	2004	 It seems plausible that the association between the DAT1 VNTR and binge-eating behaviour indicates that dysregulation of dopamine reuptake may act as a common pathophysiologic mechanism in eating disorders with binge-eating behaviour and in disorders related to substance use.	Control:115 healthy female controls;Case:90 female Japanese patients with eating disorders										
134686		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Ueno S et al. 1999	10578237				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Japan	KGB	6531	Hs.406			Molecular psychiatry. 1999 Nov;4(6):552-7	Identification of a novel polymorphism of the human dopamine transporter (DAT1) gene and the significant association with alcoholism.		126455	5444	1	1999												
134687	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543	n	Hauser J et al. 2002	12149916				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Poland	KGB	6531	Hs.406			Psychiatria polska. 2002 May-Jun;36(3):403-12	Lack of association between VNTR polymorphism of DAT gene and schizophrenia trans Brak asocjacji pomiedzy polimorfizmem VNTR genu DAT a schizofrenia.		126455	5445	1	2002												
134688	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543	n	Marino C 2003	14505070				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Italy	KGB	6531	Hs.406			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126455	5446	1	2003												
134689	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543	n	Marino C 2003	14505070				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Italy	KGB	6531	Hs.406			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126455	5447	1	2003												
134683	Y	alcohol withdrawl seizure and delirium tremens	CHEMDEPENDENCY	CHEM	Seizures|Alcohol Withdrawal Delirium|Substance Withdrawal Syndrome	5	5p15.3	SLC6A3	1445908	1498543	0.0008	Gorwood P 2003	12513948	A(9) allele			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	alcohol-dependant patients		KEW	6531	Hs.406			Biological psychiatry. 2003 Jan;53(1):85-92	The A9 allele of the dopamine transporter gene is associated with delirium tremens and alcohol-withdrawal seizure		126455	5441	1	2003	 This study provides convergent data in favor of a significant role of the DAT gene in the risk for some severe withdrawal symptoms. If further replicated in larger samples, the DAT genetic polymorphism could be one of the factors to be analyzed to further assess the risk of some severe alcohol-withdrawal symptoms.	Cohort 120 alcohol-dpendent patients										
134684	N	manic-depressive illness	PSYCH	PSY	Bipolar Disorder	5	5p15.3	SLC6A3	1445908	1498543	n	Gomez-Casero E et al. 1996	9149327				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Spanish		KGB	6531	Hs.406			Psychiatric genetics. 1996 ;6(4):209-12	No association between particular DRD3 and DAT gene polymorphisms and manic-depressive illness in a Spanish sample.		126455	5442	1	1996												
134685		major psychiatric disorders	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Georgieva L et al. 2002	11942948				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Bulgarian	Bulgaria	KGB	6531	Hs.406			Acta psychiatrica Scandinavica. 2002 May;105(5):396-9	Dopamine transporter gene (DAT1) VNTR polymorphism in major psychiatric disorders: family-based association study in the Bulgarian population.		126455	5443	1	2002	 Our results are in agreement with previous reports of a lack of association between this polymorphism and major psychiatric disorders.											
134679	Y	gastrointestinal disorders	UNKNOWN	UNK	Irritable Bowel Syndrome|Constipation	16	16q12.2	SLC6A2	54247522	54295201		Kim, H. J.  et al. 2004	15138209				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Gut. 2004 Jun;53(6):829-37	Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders.		163970	23443	2	2004	 Functionally distinct alpha(2A) and alpha(2C) adrenoceptor and serotonin transporter polymorphisms are associated with constipation and high somatic symptoms in patients with lower functional gastrointestinal disorders, although the strength of the genetic contribution to the phenotype is unclear.	Control:controls;Case:90/128/38 patients with lower functional gastrointestinal disorders (with IBS constipation (n=90), IBS diarrhoea (n=128), IBS alternating bowel function (n=38) and chronic abdominal pain (n=20)										
134680	N	personality traits	PSYCH	PSY		16	16q12.2	SLC6A2	54247522	54295201		Tsai, S. J.  et al. 2002	12210281				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			American journal of medical genetics. 2002 Aug;114(6):649-51	Norepinephrine transporter and alpha(2c) adrenoceptor allelic variants and personality factors.		163970	23444	2	2002	Our negative findings suggest that the investigated polymorphisms of the norepinephrine transporter and the alpha(2c) adrenoceptor do not play a major role in the reward-dependence personality trait as assessed by TPQ.	Cohort 190 normal young Han Chinese 										
134681		weight loss	METABOLIC	MET	Obesity|Body Weight|Weight Loss	16	16q12.2	SLC6A2	54247522	54295201		Spraggs, C. F.  et al. 2005	16272960				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Pharmacogenetics and genomics. 2005 Dec;15(12):883-9	Pharmacogenetics and obesity: common gene variantsinfluence weight loss response of the norepinephrine/dopamine transporter inhibitor GW320659 in obese subjects.		163970	23445	2	2005	 Polymorphisms in SLC6A2 and GRIN1 could be used to maximize effective obesity pharmacotherapy by norepinephrine/dopamine transporter inhibitors by identifying patients that may be predisposed to particularly good treatment weight loss response.		GW320659									
134676	N	panic disorder	PSYCH	PSY	Panic Disorder	16	16q12.2	SLC6A2	54247522	54295201		Sand, P. G.  et al. 2002	12401556				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Neuroscience letters. 2002 Nov;333(1):41-4	Norepinephrine transporter gene (NET) variants in patients with panic disorder.		163970	19511	2	2002	None of the variants under study was found to be associated with PD regardless of an additional diagnosis of agoraphobia.	Case:87 patients with panic disorder;Control:89 healthy controls										
134677	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	16	16q12.2	SLC6A2	54247522	54295201		Yang, L.  et al. 2004	15322419				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Journal of the American Academy of Child and Adolescent Psychiatry. 2004 Sep;43(9):1154-8	Association of norepinephrine transporter gene with methylphenidate response.		163970	19512	2	2004	 These findings suggest an association between the G1287A polymorphism of the norepinephrine transporter gene and variation in methylphenidate response. Further work is needed to confirm this finding and to assess its generalization to other ethnic groups.	Cohort Chinese Han youths with attention-deficit/hyperactivity disorder 2001 - 2004 	methlphenidate									
134678		hypertension	CARDIOVASCULAR	CARD		16	16q12.2	SLC6A2	54247522	54295201		Belfer, I.  et al. 2004	15362567				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Journal of human genetics. 2004 ;49(5):232-45	Haplotype architecture of the norepinephrine transporter gene SLC6A2 in four populations.		163970	19513	2	2004	The SLC6A2 haplotype map and 25-marker panel (excluding the monomorphic one) is a comprehensive tool for genetic linkage studies on phenotypes related to NET function.	Cohort 384 individuals evenly divided across Finnish Caucasian, US Caucasian, Plains American Indian, and African American populations 										
134673		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	16	16q12.2	SLC6A2	54247522	54295201		Inoue, K.  et al. 2004	15539861	T-182C			Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2	Japanese		CDC GDPinfo	6530	Hs.78036			Neuropsychobiology. 2004 ;50(4):301-4	Positive association between T-182C polymorphism in the norepinephrine transporter gene and susceptibility to major depressive disorder in a japanese population.		163970	13788	2	2004	The NET T-182C polymorphism may be in part related to the pathophysiology of major depressive disorder in a Japanese population.	Case:145 patients with major depressive disorder;Control:164 healthy volunteers										
134674	N	panic disorder	PSYCH	PSY	Agoraphobia|Panic Disorder	16	16q12.2	SLC6A2	54247522	54295201		Lee, Y. J.  et al. 2005	15722184			promoter	Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Neuroscience letters. 2005 Mar;377(1):40-3	Norepinephrine transporter (NET) promoter and 5'-UTR polymorphisms: association analysis in panicdisorder.		163970	13789	2	2005	While our data do not support a major function of the NET gene in the development of panic disorder, it may play a role in the subgroup of panic disorder without agoraphobia.	Control:115 matched controls;Case:115 German patients with panic disorder										
134675	Y	personality disorders	PSYCH	PSY		16	16q12.2	SLC6A2	54247522	54295201		Ham, B. J.  et al. 2005	15900230				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2	Korean		CDC GDPinfo	6530	Hs.78036			Psychiatric genetics. 2005 Jun;15(2):145-7	Reward dependence is related to norepinephrine transporter T-182C gene polymorphism in a Korean population.		163970	13790	2	2005	Our study suggests that the norepinephrine transporter T-182C gene polymorphism is associated with reward dependence in Koreans, but the small number of study participants and their sex and age heterogeneity limits generalization of our results. Further studies are necessary with a larger number of homogeneous participants to confirm whether the norepinephrine transporter gene is related to personality traits.	Cohort 115 healthy adults with no history of psychiatric disorders and other physical illness during the past 6 months Korea 										
134670	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q12.2	SLC6A2	54247522	54295201		Ono, K.  et al. 2003	14620922				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2		Japan	CDC GDPinfo	6530	Hs.78036			Hypertension research. 2003 Sep;26(9):685-9	Epidemiological evidence of an association between SLC6A2 gene polymorphism and hypertension.		163970	13784	2	2003	To our knowledge, this is the first report to detect associations between SLC6A2 genetic variants and blood pressure.	Cohort 1,950 subjects recruited from the Suita study Japan 										
134671		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	16	16q12.2	SLC6A2	54247522	54295201		Ryu, S. H.  et al. 2004	15118352				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Neuropsychobiology. 2004 ;49(4):174-7	Association between norepinephrine transporter gene polymorphism and major depression.		163970	13785	2	2004	This result suggests that the T-182C polymorphism in the NET gene might be associated with major depression.	Case:112 major depression patients;Control:136 healthy controls										
134672		antidepressant adverse effects	PHARMACOGENOMIC	PHARM	Depressive Disorder	16	16q12.2	SLC6A2	54247522	54295201		Yoshida, K.  et al. 2004	15337646				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			The American journal of psychiatry. 2004 Sep;161(9):1575-80	Prediction of antidepressant response to milnacipran by norepinephrine transporter gene polymorphisms		163970	13787	2	2004	 The results suggest that NET but not 5-HTT polymorphisms in part determine the antidepressant response to milnacipran.	Cohort 96 Japanese patients with major depressive disorder 	milnacipran									
134667	N	major depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	16	16q12.2	SLC6A2	54247522	54295201	n	Owen D et al. 1999	10512149				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			Psychiatry research. 1999 Jul;87(1):5-Jan	Norepinephrine transporter gene polymorphism is not associated with susceptibility to major depression.		163970	5440	1	1999												
134668	N	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	16	16q12.2	SLC6A2	54247522	54295201		Leszczynska-Rodziewicz, A.  et al. 2002	12097806				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Neuropsychobiology. 2002 ;45(4):182-5	A polymorphism of the norepinephrine transporter gene in bipolar disorder and schizophrenia: lack ofassociation.		163970	13782	2	2002	No association was found between the studied polymorphism of the NET (SLC6A2) gene and either bipolar disorder or schizophrenia.	Case:100 patients with bipolar disorder;Case:198 patients with schizophrenia										
134669	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	16	16q12.2	SLC6A2	54247522	54295201		Samochowiec, J.  et al. 2002	12374639				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Psychiatry research. 2002 Aug;111(3-Feb):229-33	Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence		163970	13783	2	2002	These results suggest that the NET gene	Case:157:alcoholics;Control:185 healthy unrelated matched control subjects	family history									
134663	Y	norepinephrine-transporter deficiency	OTHER	OTH	Syncope|Tachycardia	16	16q12.2	SLC6A2	54247522	54295201		Shannon JR et al. 2000	10684912				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			The New England journal of medicine. 2000 Feb;342(8):541-9	Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.		163970	5436	1	2000	 Genetic or acquired deficits in norepinephrine inactivation may underlie hyperadrenergic states that lead to orthostatic intolerance.											
134665	Y	orthostatic intolerance	OTHER	OTH	Autonomic Nervous System Diseases	16	16q12.2	SLC6A2	54247522	54295201		Stober G et al. 1996	12805287				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			The Journal of neuroscience. 2003 Jun;23(11):4470-8	A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters.		163970	5438	1	1996												
134666	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	16	16q12.2	SLC6A2	54247522	54295201	n	Leszczynska-Rodziewicz A et al. 2002	12097806				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			Neuropsychobiology. 2002 ;45(4):182-5	A polymorphism of the norepinephrine transporter gene in bipolar disorder and schizophrenia: lack of association.		163970	5439	1	2002	No association was found between the studied polymorphism of the NET (SLC6A2) gene and either bipolar disorder or schizophrenia.	Case:100 patients with bipolar disorder;Case:198 patients with schizophrenia										
134660	Y	obesity	METABOLIC	MET	Obesity	X	Xq23-q24	SLC6A14	115481817	115506651		Suviolahti, E.  et al. 2003	14660752				Solute carrier family 6 (amino acid transporter), member 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007231.1			CDC GDPinfo	11254	Hs.522109			The Journal of clinical investigation. 2003 Dec;112(11):1762-72	The SLC6A14 gene shows evidence of association with obesity.		300444	19509	2	2003	The SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control.	Case:117 obesity cases;Control:182:controls;Case:837 obeseity cases Finland and Sweden;Control:968:controls										
134661	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	16	16q12.2	SLC6A2	54247522	54295201	n	Samochowiec J et al. 2002	12374639				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			Psychiatry research. 2002 Aug;111(3-Feb):229-33	Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence.		163970	5434	1	2002	These results suggest that the NET gene	Case:157:alcoholics;Control:185 healthy unrelated matched control subjects	family history									
134662	Y	Anorexia Nervosa	PSYCH	PSY	Body Weight|Anorexia Nervosa	16	16q12.2	SLC6A2	54247522	54295201		Urwin RE et al. 2002	12140790			promoter	Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2		Australia	KGB	6530	Hs.78036			Molecular psychiatry. 2002 ;7(6):652-7	Anorexia nervosa (restrictive subtype) is associated with a polymorphism in the novel norepinephrine transporter gene promoter polymorphic region.		163970	5435	1	2002												
134657	Y	heart rate	CARDIOVASCULAR	CARD		2	2q12	SLC5A7	107969426	107996875		Neumann, S. A.  et al. 2005	15784779				Solute carrier family 5 (choline transporter), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021815.2			CDC GDPinfo	60482	Hs.287758			Psychosomatic medicine. 2005 Mar-Apr;67(2):168-71	Heart rate variability is associated with polymorphic variation in the choline transporter gene.		608761	19508	2	2005	 These findings show that polymorphic variation in the CHT1 gene is associated significantly with interindividual variability in HRV indices related to parasympathetic (cholinergic) activity.	Cohort 413 Caucasian individuals of European ancestry (49% men; aged 30-54 years [mean, 44 years]) 										
134658	Y	obesity	METABOLIC	MET	Obesity	X	Xq23-q24	SLC6A14	115481817	115506651		Suviolahti E 2003	14660752				Solute carrier family 6 (amino acid transporter), member 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007231.1			KGB	11254	Hs.522109			The Journal of clinical investigation. 2003 Dec;112(11):1762-72	The SLC6A14 gene shows evidence of association with obesity.		300444	6717	1	2003	The SLC6A14 gene is an interesting novel candidate for obesity because it encodes an amino acid transporter, which potentially regulates tryptophan availability for serotonin synthesis and thus possibly affects appetite control.	Case:117 obesity cases;Control:182:controls;Case:837 obeseity cases Finland and Sweden;Control:968:controls										
134659	Y	obesity	METABOLIC	MET	Obesity	X	Xq23-q24	SLC6A14	115481817	115506651		Durand, E.  et al. 2004	15331564				Solute carrier family 6 (amino acid transporter), member 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007231.1	French	France	CDC GDPinfo	11254	Hs.522109			Diabetes. 2004 Sep;53(9):2483-6	Polymorphisms in the amino acid transporter solute carrier family 6 (neurotransmitter transporter) member 14 gene contribute to polygenic obesity in French Caucasians.		300444	13781	2	2004	In conclusion, these data confirm an association of the SLC6A14 gene locus with obesity.	Case:1,267 French Caucasian obese adult case subjects;Control:649 lean control subjects										
134655	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	2	2q36	SLC4A3	220200530	220214936		Sander T et al. 2002	12399075	867Asp			Solute carrier family 4, anion exchanger, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005070.1			KGB	6508	Hs.1176			Epilepsy research. 2002 Oct;51(3):249-55	Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.			5399	1	2002												
134656	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major|Neurotic Disorders	22	22q12.2-q12.3	SLC5A4	30944462	30981319			16319503				Solute carrier family 5 (low affinity glucose cotransporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014227.1			CDC GDPinfo	6527	Hs.130101			Neuropsychobiology. 2005 Nov;53(1):8-Jan	Neuroticism Mediates the Association of the Serotonin Transporter Gene with Lifetime Major Depression			19507	2	2005												
134651	N	glycogen storage disease	METABOLIC	MET	Neutropenia|Glycogen Storage Disease Type I	11	11q23.3	SLC37A4	118400273	118406800		Melis, D.  et al. 2005	15906092				Solute carrier family 37 (glycerol-6-phosphate transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001467.3			CDC GDPinfo	2542	Hs.132760			European journal of pediatrics. 2005 Aug;164(8):501-8	Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review ofthe literature.		602671	19502	2	2005	 No correlation was found between individual mutations and the presence of neutropenia, bacterial infections and systemic complications. These results suggest that different genes and proteins modulate neutrophil differentiation, maturation and apoptosis and thus the severity and frequency of infections. The absence of detectable mutations in three patients could suggest that a second protein plays a role in microsomal phosphate transport.	Cohort 25` glycogen storage disease type (GSD) 1b patients, 13 										
134652	Y	Familial distal renal tubular acidosis	RENAL	REN	Acidosis, Renal Tubular|Acidosis, Renal Tubular	17	17q21-q22	SLC4A1	39682565	39700993		Bruce LJ et al. 1997	9312167				Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000342.1			KGB	6521	Hs.443948			The Journal of clinical investigation. 1997 Oct;100(7):1693-707	Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3 AE1) gene.		109270	5431	1	1997	We conclude that  dominantly inherited dRTA is associated with mutations in band 3; but both the disease and its autosomal dominant inheritance are not related simply to the anion transport activity of the mutant proteins.											
134648		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Bjorbaek C 1994	8039605				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Caucasian		Y Wang	6517	Hs.380691			Diabetes. 1994 Aug;43(8):976-83	Genetic variants in promoters and coding regions of the muscle glycogen synthase and the insulin-responsive GLUT4 genes in NIDDM.		138190	5429	1	1994												
134649		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Alcolado JC 1992	1348023				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Causasian and Japanese		Y Wang	6517	Hs.380691			Diabetic medicine. 1992 Jan-Feb;9(1):58-60	Restriction fragment length polymorphisms at the GLUT4 and GLUT1 gene loci in type 2 diabetes.		138190	5430	1	1992												
134650	N	obesity	METABOLIC	MET	Obesity	17	17p13	SLC2A4	7125777	7132091		Friedel, S.  et al. 2002	12079888				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2			CDC GDPinfo	6517	Hs.380691			Annals of the New York Academy of Sciences. 2002 Jun;967:554-7	Glucose transporter 4 gene: association studiespertaining to alleles of two polymorphisms in extremely obese children and adolescents and in normal and underweight controls.		138190	19501	2	2002	Allele and genotype distributions were similar in all study groups (all p values > 0.05). Hence, we did not detect association of any of the analyzed SNP alleles in the GLUT4 to different weight extremes, so these seem not to be involved in weight regulation in our study groups.	Case:212 extremely obese children and adolescents;Control:82/94 normal-weight students (n=82) and underweight:students (n=94)										
134644		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Tao T 1994	7983800				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Japanese	Japan	Y Wang	6517	Hs.380691			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2697-701	Defects of candidate genes in Japanese NIDDM--glucose transporter gene(GLUT1 gene, GLUT4 gene)		138190	5425	1	1994												
134646		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	17	17p13	SLC2A4	7125777	7132091		Matsutani A 1990	1978828				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2			Y Wang	6517	Hs.380691			Diabetes. 1990 Dec;39(12):1534-42	Polymorphisms of GLUT2 and GLUT4 genes. Use in evaluation of genetic susceptibility to NIDDM in blacks.		138190	5427	1	1990												
134647		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	17	17p13	SLC2A4	7125777	7132091		Pontiroli AE 1996	8904924				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2			Y Wang	6517	Hs.380691			Acta diabetologica. 1996 Sep;33(3):193-7	Genetic contribution of polymorphism of the GLUT1 and GLUT4 genes to the susceptibility to type 2 (non-insulin-dependent) diabetes mellitus in different populations.		138190	5428	1	1996												
134641		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Barroso, I.  et al. 2003	14551916				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			CDC GDPinfo	6514	Hs.167584			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		138160	27619	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
134642		diabetes, type 2	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms|Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Baroni MG 1992	1348045				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Italian		Y Wang	6517	Hs.380691			Human genetics. 1992 Mar;88(5):557-61	Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM).		138190	5423	1	1992												
134643		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Bjorbaek C 1994	8039605				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Caucasian		Y Wang	6517	Hs.380691			Diabetes. 1994 Aug;43(8):976-83	Genetic variants in promoters and coding regions of the muscle glycogen synthase and the insulin-responsive GLUT4 genes in NIDDM.		138190	5424	1	1994												
134638	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Moller, A. M.  et al. 2001	11344224			promoter	Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Danish	Denmark	CDC GDPinfo	6514	Hs.167584			The Journal of clinical endocrinology and metabolism. 2001 May;86(5):2181-6	Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus.		138160	19499	2	2001	we found no evidence supporting the hypothesis that genetic variability in the minimal promoter of the GLUT2 is associated with type 2 diabetes or prediabetic phenotypes in the Danish population.	Control:241 age-matched glucose-tolerant subjects;Case:320 type 2 diabetic patients:Cohort:96 randomly recruited type 2 diabetic patients:Denmark										
134640		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Disease Progression	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Laukkanen, O.  et al. 2005	15983230				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1		Finland	CDC GDPinfo	6514	Hs.167584			Diabetes. 2005 Jul;54(7):2256-60	Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the FinnishDiabetes Prevention Study.		138160	23441	2	2005	We conclude that  the SNPs of SLC2A2 predict the conversion to diabetes in obese subjects with IGT.											
134634		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Elbein SC 1992	1359987				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			Y Wang	6514	Hs.167584			Diabetes. 1992 Dec;41(12):1660-7	Linkage analysis of GLUT1 (HepG2) and GLUT2 (liver/islet) genes in familial NIDDM.		138160	5420	1	1992												
134635		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Li SR 1991	1683793				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Caucasian and West Indian	West Indies|London	Y Wang	6514	Hs.167584			Biochimica et biophysica acta. 1991 Nov;1097(4):293-8	Genetic polymorphisms at the human liver/islet glucose transporter (GLUT2) gene locus in Caucasian and West Indian subjects with type 2 (non-insulin-dependent) diabetes mellitus.		138160	5421	1	1991												
134637		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Cha, J. Y.  et al. 2002	12017192			promoter	Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			CDC GDPinfo	6514	Hs.167584			Annals of clinical and laboratory science. 2002 ;32(2):114-22	Analysis of polymorphism of the GLUT2 promoter in NIDDM patients and its functional consequence to the promoter activity.		138160	13777	2	2002	These results suggest that polymorphisms at positions -269, -44, or + 103 may affect GLUT2 gene transcription, possibly associated with reduced expression of the GLUT2 gene in NIDDM patients.	Case:100 patients with non-insulin dependent diabetes:mellitus;Control:100 normal subjects										
134630		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Patel P 1991	1685129				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Caucasian		Y Wang	6514	Hs.167584			Diabetologia. 1991 Nov;34(11):817-21	Multiple restriction fragment length polymorphisms at the GLUT2 locus: GLUT2 haplotypes for genetic analysis of type 2 (non-insulin-dependent) diabetes mellitus.		138160	5416	1	1991												
134632		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Matsubara A1995	7593414				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Japanese	Japan	Y Wang	6514	Hs.167584			The Journal of clinical endocrinology and metabolism. 1995 Nov;80(11):3131-5	Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin dependent diabetes mellitus.		138160	5418	1	1995												
134633		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Baroni MG 1992	1351429				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Italian		Y Wang	6514	Hs.167584			Clinical genetics. 1992 May;41(5):229-34	Polymorphisms at the GLUT2 (beta-cell/liver) glucose transporter gene and non-insulin-dependent diabetes mellitus (NIDDM): analysis in affected pedigree members.		138160	5419	1	1992	We conclude that  genetic variation at the GLUT2 transporter gene is unlikely to contribute in a major way to the inheritance for NIDDM in this Italian population.											
134626	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1	SLC2A10	44771685	44798392		Andersen, G.  et al. 2003	12941788				Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3			CDC GDPinfo	81031	Hs.305971			Diabetes. 2003 Sep;52(9):2445-8	Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits.		606145	19497	2	2003	These results suggest that variation in the coding region of SLC2A10 does not contribute substantially to the pathogenesis of type 2 diabetes in the examined study population. However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels.	Case:503 type 2 diabetic patients;Control:510 glucose-tolerant control subjects										
134627	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1	SLC2A10	44771685	44798392		Mohlke, K. L.  et al. 2005	15936967				Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3		Finland	CDC GDPinfo	81031	Hs.305971			Molecular genetics and metabolism. 2005 Aug;85(4):323-7	Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns.		606145	19498	2	2005	We did not confirm the previously reported association between Ala206Thr and fasting insulin and we observed no statistically significant evidence for T2D association with any single marker. We tested haplotypes for association with diabetes-related traits and observed no excess of significant results.											
134629		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Matsutani A 1990	1978828				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			Y Wang	6514	Hs.167584			Diabetes. 1990 Dec;39(12):1534-42	Polymorphisms of GLUT2 and GLUT4 genes. Use in evaluation of genetic susceptibility to NIDDM in blacks.		138160	5415	1	1990												
134623		nephropathy	METABOLIC	MET	Kidney Failure, Chronic|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p35-p31.3	SLC2A1	43164105	43197088		Grzeszczak, W.  et al. 2001	11168944				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Chinese		CDC GDPinfo	6513	Hs.473721			Kidney international. 2001 Feb;59(2):631-6	Role of GLUT1 gene in susceptibility to diabetic nephropathy in type 2 diabetes.		138140	19496	2	2001	 The results of this study in Caucasian patients with type 2 diabetes indicate that the XbaI(-) allele in the GLUT1 gene protects against the development of diabetic nephropathy. Our results are in contrast to the case control study in Chinese patients with type 2 diabetes in which the presence of the XbaI(-) allele appeared to have a strong association with the development of diabetic nephropathy.	Control healthy individuals;Case:132 type 2 diabetes patients with persistent proteinuria or chronic renal failure;Case:150 type 2 diabetes patients with microalbuminuria;Case:162 type 2 diabetes patients with normoalbuminuria										
134624	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1	SLC2A10	44771685	44798392		Andersen G 2003	12941788			coding sequence	Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3	Danish Caucasian		KGB	81031	Hs.305971	Insulin secretion		Diabetes. 2003 Sep;52(9):2445-8	Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits.		606145	6844	1	2003	These results suggest that variation in the coding region of SLC2A10 does not contribute substantially to the pathogenesis of type 2 diabetes in the examined study population. However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels.	Case:503 type 2 diabetic patients;Control:510 glucose-tolerant control subjects										
134625		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	20	20q13.1	SLC2A10	44771685	44798392		Rose, C. S.  et al. 2005	15975113	Ala206Thr			Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3			CDC GDPinfo	81031	Hs.305971			Diabetic medicine. 2005 Jul;22(7):946-9	Studies of relationships between the GLUT10 Ala206Thr polymorphism and impaired insulin secretion.		606145	13776	2	2005	 The GLUT10 Ala206Thr polymorphism is not associated with Type 2 diabetes in the Danish population. Furthermore, in the present large-scale cohort, the polymorphism does not associate with phenotypes such as fasting and oral glucose-induced levels of plasma glucose and serum insulin.											
134620		nephropathy, diabetic	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p35-p31.3	SLC2A1	43164105	43197088		Ng, D. P.  et al. 2002	12086959				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			CDC GDPinfo	6513	Hs.473721			Diabetes. 2002 Jul;51(7):2264-9	Minor effect of GLUT1 polymorphisms on susceptibility to diabetic nephropathy in type 1 diabetes.		138140	13773	2	2002	In conclusion, our study confirms that SNPs at the GLUT1 locus are associated with susceptibility to diabetic nephropathy in type 1 diabetes. Although these SNPs confer a considerable personal risk for diabetic nephropathy, they account for a limited proportion of cases among type 1 diabetic patients.											
134621	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies	1	1p35-p31.3	SLC2A1	43164105	43197088		Zintzaras, E.  et al. 2005	15682272				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			CDC GDPinfo	6513	Hs.473721			Journal of human genetics. 2005 ;50(2):84-91	Association between the GLUT1 gene polymorphism and the risk of diabetic nephropathy: a meta-analysis.		138140	13774	2	2005												
134622	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1	1	1p35-p31.3	SLC2A1	43164105	43197088		Hodgkinson, A. D.  et al. 2005	15745834				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			CDC GDPinfo	6513	Hs.473721			Journal of diabetes and its complications. 2005 Mar-Apr;19(2):65-9	A novel polymorphism in the 5' flanking region of the glucose transporter (GLUT1) gene is strongly associated with diabetic nephropathy in patients with Type 1 diabetes mellitus.		138140	13775	2	2005	These results confirm previous reports of an association between the GLUT1 gene and susceptibility to DN but not retinopathy. The localisation of this polymorphism suggests that it may be involved in the expression of the gene.	Control:101 normal controls;Case:288 patients with type 1 diabetes										
134617		nephropathy	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Hyperglycemia	1	1p35-p31.3	SCL2A1	43164105	43197088		Liu ZH et al. 1999	10231446				solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516			KGB	6513	Hs.473721			Kidney international. 1999 May;55(5):1843-8	Glucose transporter (GLUT1) allele (XbaI-) associated with nephropathy in non-insulin-dependent diabetes mellitus.		138140	5413	1	1999	 Our results indicate that the XbaI (-) allele of the GLUT1 gene might be a genetic marker of NIDDM with DN, and this genetic susceptibility is independent of its retinopathy in Chinese subjects.											
134618	Y	nephropathy	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus	1	1p35-p31.3	SLC2A1	43164105	43197088		Hodgkinson, A. D.  et al. 2001	11231353				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			CDC GDPinfo	6513	Hs.473721			Kidney international. 2001 Mar;59(3):985-9	Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy		138140	13771	2	2001	 These results suggest that the GLUT1 gene together with the aldose reductase gene are associated with susceptibility to DN in patients with type 1 diabetes.	Control:104 normal controls;Case:186 Caucasoid patients with type 1 diabetes										
134619	N	nephropathy	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 1	1	1p35-p31.3	SLC2A1	43164105	43197088		Tarnow, L.  et al. 2001	11477169				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Danish		CDC GDPinfo	6513	Hs.473721			Nephrology, dialysis, transplantation. 2001 Aug;16(8):1653-6	Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients.		138140	13772	2	2001	 Neither the PC-1 K121Q nor the GLUT-1 XbaI polymorphism contribute to the genetic susceptibility of diabetic microvascular complications in Danish type 1 diabetic patients.	Control:192 type 1 diabetic patients with persistent normoalbuminuria (118 men/74 women, age 42.7+/-10.2 years, diabetes duration 26+/-9 years);Case:199 Danish type 1 diabetic patients with nephropathy (122 men/77 women, age 40.9+/-9.6 years, diabetes duration 27+/-8 years)										
134613		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Alcolado JC 1992	1348023				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Caucasian and Japanese		Y Wang	6513	Hs.473721			Diabetic medicine. 1992 Jan-Feb;9(1):58-60	Restriction fragment length polymorphisms at the GLUT4 and GLUT1 gene loci in type 2 diabetes.		138140	5409	1	1992												
134614		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SCL2A1	43164105	43197088		Tao T et al. 1995	7589880				solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516	Japanese	Japan	KGB	6513	Hs.473721			Diabetologia. 1995 Aug;38(8):942-7	HepG2/erythrocyte glucose transporter (GLUT1) gene in NIDDM: a population association study and molecular scanning in Japanese subjects.		138140	5410	1	1995	We conclude that  the structural mutation of GLUT1 is rare and not likely to be a major genetic determinant of NIDDM in Japanese subjects. The XbaI (-) allele of the GLUT1 gene appeared to be a genetic marker of NIDDM in Japanese subjects. The possibility of the presence of mutation(s) in the regulatory region of the gene or in another locus nearby could not be excluded.											
134615	N	Diabetic microvascular complications	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 1	1	1p35-p31.3	SCL2A1	43164105	43197088	n	Tarnow L et al. 2001	11477169				solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516	caucasian		KGB	6513	Hs.473721			Nephrology, dialysis, transplantation. 2001 Aug;16	Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients.		138140	5411	1	2001	 Neither the PC-1 K121Q nor the GLUT-1 XbaI polymorphism contribute to the genetic susceptibility of diabetic microvascular complications in Danish type 1 diabetic patients.											
134610		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Elbein SC 1992	1359987				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			Y Wang	6513	Hs.473721			Diabetes. 1992 Dec;41(12):1660-7	Linkage analysis of GLUT1 (HepG2) and GLUT2 (liver/islet) genes in familial NIDDM.		138140	5406	1	1992												
134611		diabetes, type 2	METABOLIC	MET	Kidney Failure, Chronic|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p35-p31.3	SLC2A1	43164105	43197088		Grzeszczak W 2001	11168944				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Chinese		Y Wang	6513	Hs.473721	Complications		Kidney international. 2001 Feb;59(2):631-6	Role of GLUT1 gene in susceptibility to diabetic nephropathy in type 2 diabetes.		138140	5407	1	2001	 The results of this study in Caucasian patients with type 2 diabetes indicate that the XbaI(-) allele in the GLUT1 gene protects against the development of diabetic nephropathy. Our results are in contrast to the case control study in Chinese patients with type 2 diabetes in which the presence of the XbaI(-) allele appeared to have a strong association with the development of diabetic nephropathy.	Control healthy individuals;Case:132 type 2 diabetes patients with persistent proteinuria or chronic renal failure;Case:150 type 2 diabetes patients with microalbuminuria;Case:162 type 2 diabetes patients with normoalbuminuria										
134612		diabetes, type 2	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms|Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Baroni MG 1992	1348045				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Italian		Y Wang	6513	Hs.473721			Human genetics. 1992 Mar;88(5):557-61	Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM).		138140	5408	1	1992												
134605		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	1	1p35-p31.3	SLC2A1	43164105	43197088		O'Rahilly S 1989	2569430				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			Y Wang	6513	Hs.473721			Diabetologia. 1989 Apr;32(4):266-9	Analysis of the HepG2/erythrocyte glucose transporter locus in a family with type 2 (non-insulin-dependent) diabetes and obesity.		138140	5401	1	1989												
134606		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	1	1p35-p31.3	SLC2A1	43164105	43197088		Pontiroli AE 1996	8904924				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			Y Wang	6513	Hs.473721			Acta diabetologica. 1996 Sep;33(3):193-7	Genetic contribution of polymorphism of the GLUT1 and GLUT4 genes to the susceptibility to type 2 (non-insulin-dependent) diabetes mellitus in different populations.		138140	5402	1	1996												
134607		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Tao T 1994	7983800				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Japanese	Japan	Y Wang	6513	Hs.473721			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2697-701	Defects of candidate genes in Japanese NIDDM--glucose transporter gene(GLUT1 gene, GLUT4 gene)		138140	5403	1	1994												
134601	N	infertility, male	REPRODUCTION	REP	Infertility, Male	6	6p21	SLC26A8	36019270	36100355		Makela, S.  et al. 2004	15579655				Solute carrier family 26, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052961.2			CDC GDPinfo	116369	Hs.435836			Molecular human reproduction. 2005 Feb;11(2):129-32	Mutational analysis of the human SLC26A8 gene:exclusion as a candidate for male infertility due to primary spermatogenic failure.		608480	19495	2	2004	We conclude that  the SLC26A8 mutations are not a common cause of male infertility.	Control controls from two groups;Case:83 male infertility patients										
134602		lipoprotein; lipids	METABOLIC	MET	Hyperlipidemias	19	19p13.11	SLC27A1	17442299	17477977		Gertow, K.  et al. 2003	12818409				Solute carrier family 27 (fatty acid transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198580.1			CDC GDPinfo	376497	Hs.363138			Atherosclerosis. 2003 Apr;167(2):265-73	A common polymorphism in the fatty acid transport protein-1 gene associated with elevated post-prandial lipaemia and alterations in LDL particle size distribution.		600691	23440	2	2003	These findings suggest that through regulation of NEFA trafficking, FATP1 might play a role in post-prandial lipid metabolism and development of cardiovascular disease.	Cohort 628/426 healthy 50-year-old Swedish men(n=628) and Swedish women (n=426 ), aged 37-65 years Sweden 										
134603		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	19	19p13.11	SLC27A1	17442299	17477977		Meirhaeghe, A.  et al. 2005	15978856				Solute carrier family 27 (fatty acid transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198580.1		France	CDC GDPinfo	376497	Hs.363138			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):293-9	Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.		600691	25548	2	2005												
134598		scoliosis	OTHER	OTH	Bone Diseases|Scoliosis|Genetic Predisposition to Disease	5	5q31-q34	SLC26A2	149320492	149347156		Remes, V. M.  et al. 2002	12193993				Solute carrier family 26 (sulfate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000112.3			CDC GDPinfo	1836	Hs.302738			European spine journal. 2002 Aug;11(4):327-31	Does genotype predict development of the spinal deformity in patients with diastrophic dysplasia?		606718	19489	2	2002	Statistical analysis found no difference in the prevalence or magnitude of curves between subgroups. The development and severity of the scoliosis cannot, therefore, be predicted from the genotype. It seems possible that scoliosis development is affected by several genes as well as by external factors.	Cohort 60 patients with diastrophic dysplasia 										
134599	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	5	5q31-q34	SLC26A2	149320492	149347156		Ikeda, T.  et al. 2001	11558903				Solute carrier family 26 (sulfate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000112.3		Tokyo	CDC GDPinfo	1836	Hs.302738			Journal of human genetics. 2001 ;46(9):538-43	Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.		606718	23438	2	2001	Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA.											
134600	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	5	5q31-q34	SLC26A2	149320492	149347156		Jakkula, E.  et al. 2004	15523498				Solute carrier family 26 (sulfate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000112.3			CDC GDPinfo	1836	Hs.302738			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		606718	27618	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
134595		citrullinemia, adult-onset type II; hepatitis, neonatal associated with cholestasis	METABOLIC	MET	Cholestasis|Hepatitis|Citrullinemia	7	7q21.3	SLC25A13	95587467	95789341		Yamaguchi, N.  et al. 2002	11793471				Solute carrier family 25, member 13 (citrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014251.1	Japanese	Japan	CDC GDPinfo	10165	Hs.489190			Human mutation. 2002 Feb;19(2):122-30	Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novelmutations and establishment of multiple DNA diagnosis methods for nine mutations.		603859	19487	2	2002	The frequency of homozygotes carrying SLC25A13 mutations in both alleles is estimated to be minimally 1 in 21,000 from carrier detection (18 in 1,315 individuals tested) in the Japanese population. The differences in the gender ratio and in mutation types between CTLN2 and NICCD patients are significant. It is, however, unknown whether all homozygotes with mutated SLC25A13 in both alleles suffer from NICCD, CTLN2, both, or neither.	Cohort 115 adult-onset type II citrullinemia patients Japan Cohort 45 neonatal hepatitis associated with cholestasis PATIENTS Japan 										
134597		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	6	6p11.2-q12	SLC25A27	46728637	46753886			16378686				Solute carrier family 25, member 27	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004277			CDC GDPinfo	9481	Hs.40510			Neuroscience letters. 2005	Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG			26574	2	2005												
134592	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	2	2q24	SLC25A12	172349125	172458979	p<0.004	Ramoz N 2004	15056512	rs2056202 (I3-21A/G) and rs2292813 (I16+70A/G), are G/A variants in flanking intronic sequence located 21 base pairs upstream of exon 4 and 70 base pairs downstream of exon 16, respectively.			Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003705.2			KGB	8604	Hs.470608			The American journal of psychiatry. 2004 Apr;161(4):662-9	Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism.		603667	6578	1	2004	 A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. Further studies are needed to confirm this association and to decipher any potential etiological role of AGC1 in autism.											
134593	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	2	2q24	SLC25A12	172349125	172458979		Blasi, F.  et al. 2005	16205742			other	Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003705.2			CDC GDPinfo	8604	Hs.470608			European journal of human genetics. 2006 Jan;14(1):123-6	SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.	2056202	603667	23437	2	2005												
134594		citrullinemia, adult-onset type II	METABOLIC	MET	Citrullinemia	7	7q21.3	SLC25A13	95587467	95789341		Yasuda, T.  et al. 2000	11153906				Solute carrier family 25, member 13 (citrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014251.1			CDC GDPinfo	10165	Hs.489190			Human genetics. 2000 Dec;107(6):537-45	Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.		603859	19486	2	2000	From these findings, we hypothesize that CTLN2 is caused by a complete deletion of citrin, although the mechanism of ASS deficiency is still unknown.	Cohort 103 adult-onset type II citrullinemia patients 										
134589		Crohn's disease; ulcerative colitis	IMMUNE	IMM		11	11q13.1-q13.2	SLC22A6	62500644	62509045		Bleasby, K.  et al. 2005	15914676				Solute carrier family 22 (organic anion transporter), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004790.3			CDC GDPinfo	9356	Hs.369252			The Journal of pharmacology and experimental therapeutics. 2005 Aug;314(2):923-31	Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6).		607582	13766	2	2005	Since hOAT1 has been suggested as the basis of nephrotoxicity induced by nucleoside phosphonate analogs, this study raises the intriguing possibility that individuals with genetic variation in hOAT1, such as R50H, may display different handling of these drugs.	Cohort 92 individuals of African, Asian and Caucasian origin 										
134590		pravastatin kinetics	PHARMACOGENOMIC	PHARM		11	11q11	SLC22A8	62513201	62539887		Nishizato, Y.  et al. 2003	12811365				Solute carrier family 22 (organic anion transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004254.2			CDC GDPinfo	9376	Hs.266223			Clinical pharmacology and therapeutics. 2003 Jun;73(6):554-65	Polymorphisms of OATP-C (SLC21A6) and OAT3 (SLC22A8) genes: consequences for pravastatinpharmacokinetics.		607581	13767	2	2003	 Certain commonly occurring single-nucleotide polymorphisms in OATP-C, such as T521C (Val174Ala), are likely to be associated with altered pharmacokinetics of pravastatin. Large clinical studies are needed to confirm these observations.	Cohort 23 healthy volunteers 	pravastatin									
134591		pravastatin kinetics	PHARMACOGENOMIC	PHARM		11	11q11	SLC22A8	62513201	62539887		Erdman, A. R.  et al. 2005	16291576				Solute carrier family 22 (organic anion transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004254.2			CDC GDPinfo	9376	Hs.266223			American journal of physiology Renal physiology. 2005	The human organic anion transporter 3 (OAT3; SLC22A8): genetic variation and functionalgenomics.		607581	19485	2	2005												
134586		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q31	SLC22A5	131733342	131759202			16373276				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Japanese		CDC GDPinfo	6584	Hs.443572			Scandinavian journal of gastroenterology. 2006 Jan;41(1):48-53	Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease		603377	25547	2	2006	In contrast to Caucasians, IBD5 is not a major component of the susceptibility to IBD in the Japanese population.											
134587		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	5	5q31	SLC22A5	131733342	131759202		Tripodi, G.  et al. 2005	15647998				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Journal of renal nutrition. 2005 Jan;15(1):7-Feb	Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.		603377	26572	2	2005	 These results identify the carnitine-transporter gene family as candidate modifiers of LVMI in human hypertension. The use of common SNPs to define informative haplotypes associated with the phenotype of interest is the starting point for progress toward identification of the trapped contributing SNP(s).	Cohort 215 never-treated, middle-aged patients with mild essential hypertension 										
134588		Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Susceptibility|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202			16344053				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Gastroenterology. 2005 Dec;129(6):1845-53	Association of Organic Cation Transporter Risk Haplotype With Perianal Penetrating Crohn's Disease but Not With Susceptibility to IBD		603377	26573	2	2005	DLG5 and OCTN do not play a role in the susceptibility to IBD, CD, or ulcerative colitis in the Flemish population but play a role in the phenotypic expression of the disease. OCTN variants were associated with perianal and penetrating CD. More studies in independent populations are urgently needed to assess the validity of DLG5 and OCTN in the pathogenesis of IBD.											
134581		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202			16361305				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Gut. 2005	Evidence for association of OCTN genes and IBD5 with ulcerative colitis		603377	23436	2	2005	 The OCTN variants were associated with susceptibility to IBD overall. The effect was equally strong in UC and CD. Although OCTN variants may account for the increased risk of IBD associated with IBD5, a role for other candidate genes within this extended haplotype was not excluded. There was no statistical evidence of interaction between CARD15 and either OCTN or IBD5 variants in susceptibility to IBD.											
134582		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q31	SLC22A5	131733342	131759202		Newman, B.  et al. 2005	15685536				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Canadian		CDC GDPinfo	6584	Hs.443572			Gastroenterology. 2005 Feb;128(2):260-9	A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease		603377	25543	2	2005	 The SLC22A -TC haplotype acts together with CARD15 disease susceptibility alleles to increase risk for CD and ileal disease among CD patients but does not contribute to risk for UC in this Canadian cohort. The association of the SLC22A -TC haplotype and CARD15 alleles with ileal disease suggests that these variants have biologically intertwined effects in the pathogenesis of CD.	Control:352 ethnically matched controls;Case:507/216 Canadian cohort, including 507 patients with Crohn's disease and 216 patients with ulcerative:colitis:Canada										
134583		psoriasis; arthritis, psoriatic; arthritis, inflammatory	IMMUNE	IMM	Arthritis, Psoriatic|Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Ho, P.  et al. 2005	16255050				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2		Great Britain	CDC GDPinfo	6584	Hs.443572			Arthritis and rheumatism. 2005 Nov;52(11):3596-602	Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.		603377	25544	2	2005	 The OCTN haplotype previously associated with Crohn's disease is also associated with PsA, suggesting that these 2 diseases may share some common genetic control in pathways of inflammation.											
134577		rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	IMMUNE	IMM	Autoimmune Diseases|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Mori, M.  et al. 2005	15883854				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Journal of human genetics. 2005 ;50(5):264-6	Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.		604190	26571	2	2005	Our data suggest that ethnic variations of polymorphisms should be evaluated in detail, and differences should be incorporated into investigations of susceptibility variants for common diseases.	Cohort individuals from Caucasian, African-descent, and Japanese populations. 										
134578	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	5	5q31	SLC22A5	131733342	131759202	P = 0.0003	Peltekova VD 2004	15107849	GC transversion in the SLC22A5 promoter (-207GC)	disrupts a heat shock element (HSE) 207 bp upstream of the start codon		Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			KGB	6584	Hs.443572			Nature genetics. 2004 May;36(5):471-5	Functional variants of OCTN cation transporter genes are associated with Crohn disease		603377	5569	1	2004												
134580		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Martinez, A.  et al. 2005	16333318				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Spanish		CDC GDPinfo	6584	Hs.443572			European journal of human genetics. 2006 Feb;14(2):222-6	Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population		603377	23435	2	2005												
134573		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Torok, H. P.  et al. 2005	15955786				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Gut. 2005 Oct;54(10):1421-7	Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.		604190	23432	2	2005	 Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.											
134574		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q23.3	SLC22A4	131658043	131707798			16373276				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Japanese		CDC GDPinfo	6583	Hs.310591			Scandinavian journal of gastroenterology. 2006 Jan;41(1):48-53	Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease		604190	23433	2	2006	In contrast to Caucasians, IBD5 is not a major component of the susceptibility to IBD in the Japanese population.											
134575		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Orozco, G.  et al. 2005	16249223				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Annals of the rheumatic diseases. 2005	Study of the role of functional variants of SLC22A4, RUNX1and SUMO4 in systemic lupus erythematosus.		604190	23434	2	2005	 These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.											
134569		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798			16361305				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Gut. 2005	Evidence for association of OCTN genes and IBD5 with ulcerative colitis		604190	19482	2	2005	 The OCTN variants were associated with susceptibility to IBD overall. The effect was equally strong in UC and CD. Although OCTN variants may account for the increased risk of IBD associated with IBD5, a role for other candidate genes within this extended haplotype was not excluded. There was no statistical evidence of interaction between CARD15 and either OCTN or IBD5 variants in susceptibility to IBD.											
134570		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q23.3	SLC22A4	131658043	131707798		Newman, B.  et al. 2005	15685536				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Canadian		CDC GDPinfo	6583	Hs.310591			Gastroenterology. 2005 Feb;128(2):260-9	A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease		604190	23429	2	2005	 The SLC22A -TC haplotype acts together with CARD15 disease susceptibility alleles to increase risk for CD and ileal disease among CD patients but does not contribute to risk for UC in this Canadian cohort. The association of the SLC22A -TC haplotype and CARD15 alleles with ileal disease suggests that these variants have biologically intertwined effects in the pathogenesis of CD.	Control:352 ethnically matched controls;Case:507/216 Canadian cohort, including 507 patients with Crohn's disease and 216 patients with ulcerative:colitis:Canada										
134571		psoriasis; arthritis, psoriatic; arthritis, inflammatory	IMMUNE	IMM	Arthritis, Psoriatic|Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Ho, P.  et al. 2005	16255050				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2		Great Britain	CDC GDPinfo	6583	Hs.310591			Arthritis and rheumatism. 2005 Nov;52(11):3596-602	Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.		604190	23430	2	2005	 The OCTN haplotype previously associated with Crohn's disease is also associated with PsA, suggesting that these 2 diseases may share some common genetic control in pathways of inflammation.											
134566	N	rheumatoid arthritis; Crohn's disease	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Newman, B.  et al. 2005	15693005				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Canadian	Canada|Japan	CDC GDPinfo	6583	Hs.310591			Arthritis and rheumatism. 2005 Feb;52(2):425-9	SLC22A4 polymorphisms implicated in rheumatoid arthritis and Crohn's disease are not associated with rheumatoid arthritis in a Canadian Caucasian population.		604190	13763	2	2005	 These observations do not support roles for any of the previously identified SLC22A4 disease risk alleles in RA susceptibility in the Canadian population. The slc2F1/slc2F2 risk alleles were not associated with Crohn's disease nor in linkage disequilibrium with the Crohn's disease-associated 1672T variant, and accordingly, also appear to be irrelevant to Crohn's disease susceptibility in the population under study.	Control:623 healthy controls;Case:918/507 Canadian Caucasian patients with rheumatoid arthritis (n=918) and Crohn's disease (n=507)										
134567	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	5	5q23.3	SLC22A4	131658043	131707798		Barton, A.  et al. 2005	15751072				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Japanese	Great Britain	CDC GDPinfo	6583	Hs.310591			Arthritis and rheumatism. 2005 Mar;52(3):752-8	Investigation of the SLC22A4 gene (associated with rheumatoid arthritis in a Japanese population) in a United Kingdom population of rheumatoid arthritis patients.		604190	19476	2	2005	 Functional polymorphisms of the OCTN gene locus that have previously been associated with RA and CD were not found to be associated with RA in a UK population. The findings do not provide support for a major role of these genes in the etiology of RA in this population.	Control:594 population controls;Case:909 rheumatoid arthritis cases:UK										
134568		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Martinez, A.  et al. 2005	16333318				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Spanish		CDC GDPinfo	6583	Hs.310591			European journal of human genetics. 2006 Feb;14(2):222-6	Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population		604190	19479	2	2005				SLC22A4	1672T	SLC22A5	207C			Y		Crohn's disease
134562		iron levels	METABOLIC	MET	Hemochromatosis|Iron Overload	11	11q13.1	SLC22A12	64114857	64126396		Zaahl, M. G.  et al. 2004	15338274				Solute carrier family 22 (organic anion/cation transporter), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144585.2			CDC GDPinfo	116085	Hs.174424			Human genetics. 2004 Oct;115(5):409-17	Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload		607096	25541	2	2004	This study confirms the genetic heterogeneity of haemochromatosis and highlights the significance of CYBRD1 mutations in relation to iron overload.	Case:67 unrelated patients presenting with primary iron:overload;Control:70 population-matched controls										
134564	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798	P = 0.000034	Nat Genet. 2003 Dec;35(4):341-8 2004	14608356			5'promoter	solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			KGB	6583	Hs.310591			Nature genetics. 2003 Dec;35(4):341-8	An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis		604190	5567	1	2003												
134565	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	5	5q23.3	SLC22A4	131658043	131707798	P = 0.0003	Peltekova VD	15107849	CT substitution in SLC22A4 exon 9 (1672CT) :L503F		coding sequence	solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			KGB	6583	Hs.310591			Nature genetics. 2004 May;36(5):471-5	Functional variants of OCTN cation transporter genes are associated with Crohn disease		604190	5568	1	2004												
134559		alcohol dependence	CHEMDEPENDENCY	CHEM		6	6q26	SLC22A1	160462852	160499740		Itoda, M.  et al. 2004	15499200				Solute carrier family 22 (organic cation transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003057.2			CDC GDPinfo	6580	Hs.117367			Drug metabolism and pharmacokinetics. 2004 Aug;19(4):308-12	Seven novel single nucleotide polymorphisms in the human SLC22A1 gene encoding organic cation transporter 1 (OCT1)		602607	13761	2	2004		Cohort 116 Japanese individuals 										
134560	Y	kidney disease	RENAL	REN	Kidney Diseases|Hyperuricemia	11	11q13.1	SLC22A12	64114857	64126396		Iwai, N.  et al. 2004	15327384				Solute carrier family 22 (organic anion/cation transporter), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144585.2	Japanese	Japan	CDC GDPinfo	116085	Hs.174424			Kidney international. 2004 Sep;66(3):935-44	A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.		607096	19472	2	2004	 SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese.	Cohort 24 subjects with hypouricemia recruited from the Suita study representing the general population in Japan Japan 										
134561	Y	hyperuricemia; uric acid	METABOLIC	MET		11	11q13.1	SLC22A12	64114857	64126396			16385546				Solute carrier family 22 (organic anion/cation transporter), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144585.2	German		CDC GDPinfo	116085	Hs.174424			Arthritis and rheumatism. 2006 Jan;54(1):292-300	Association of the human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population		607096	19474	2	2005	 These results indicate that polymorphisms in the N-terminus of the hURAT1 gene were significantly associated with reduced renal uric acid excretion. The main regulating factor seems to be located close to the C426T polymorphism or is in strong linkage disequilibrium.											
134556	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13-p12	SLC1A2	35229327	35398100		Deng, X. X.  et al. 2004	15296513				Solute carrier family 1 (glial high affinity glutamate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004171.2	Japanese	Japan	CDC GDPinfo	6506	Hs.502338			BMC psychiatry [electronic resource]. 2004 Aug;4:21	Association study of polymorphisms in the excitatory amino acid transporter 2 gene (SLC1A2) with schizophrenia		600300	13760	2	2004	 We concluded that at least one susceptibility locus for schizophrenia is probably located within or nearby SLC1A2 in the Japanese population.	Case:100 Japanese schizophrenic cases Kyushu area, Japan;Control:100 controls from Kyushu area;Case:100 Japanese schizophrenics Aichi area, Japan;Control:100 controls from Aichi area										
134557		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p13-p12	SLC1A2	35229327	35398100		Sander, T.  et al. 2000	11204345				Solute carrier family 1 (glial high affinity glutamate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004171.2			CDC GDPinfo	6506	Hs.502338			Psychiatric genetics. 2000 Sep;10(3):103-7	Genetic variation of the glutamate transporter EAAT2 gene and vulnerability to alcohol dependence		600300	19471	2	2000	These two consistent lines of evidence suggest that genetic variation of the EAAT2 gene confers vulnerability to risk-taking behavior in alcoholics.	Control:223 control subjects of Germna descent;Case:342 alcohol-dependent subjects of German descent										
134558	N	cystic fibrosis	OTHER	OTH	Intestinal Obstruction|Cystic Fibrosis	19	19q13.3	SLC1A5	51969979	51983653	n	Larriba S et al. 2001	11781704				Solute carrier family 1 (neutral amino acid transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005628.1			KGB	6510	Hs.631582	intestinal phenotype		European journal of human genetics. 2001 Nov;9(11):860-6	ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.		109190	5400	1	2001												
134553	Y	Parkinson's disease; alcohol abuse	NEUROLOGICAL	NEUR		10	10q25	SLC18A2	118990705	119027085		Glatt, C. E.  et al. 2001	11279528				Solute carrier family 18 (vesicular monoamine), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003054.2			CDC GDPinfo	6571	Hs.369009			Nature genetics. 2001 Apr;27(4):435-8	Screening a large reference sample to identify very low frequency sequence variants: comparisonsbetween two genes		193001	19544	2	2001	Both genes have unique roles in neuronal transmission, and variants in either gene might be associated with neurobehavioral phenotypes.	Cohort ethnically diverse reference sample 										
134554		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	SLC18A3	50488352	50490772		Harold, D.  et al. 2003	12759818				Solute carrier family 18 (vesicular acetylcholine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003055		Great Britain	CDC GDPinfo	6572	Hs.534349			Human genetics. 2003 Aug;113(3):258-67	Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.		600336	23428	2	2003	Three non-coding SNPs were detected in SLC18A3. None demonstrated any reproducible association with late-onset AD in our samples. Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium.	Case:500 late-onset Alzheimer's disease cases:UK;Control:500:controls										
134555		diabetes, type 2	METABOLIC	MET	Anemia, Megaloblastic|Diabetes Mellitus, Type 2|Disease Susceptibility|Genetic Predisposition to Disease	1	1q23.3	SLC19A2	167699790	167721865		Thameem F 2001	11286512				Solute carrier family 19 (thiamine transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006996.1	Pima Indians	Arizona	Y Wang	10560	Hs.30246			Molecular genetics and metabolism. 2001 Apr;72(4):360-3	Analysis of slc19a2, on 1q23.3 encoding a thiamine transporter as a candidate gene for type 2 diabetes mellitus in pima indians.		603941	6669	1	2001	We conclude that  mutations in SLC19A2 do not contribute to type 2 diabetes in this population.											
134550		schizophrenia	PSYCH	PSY		10	10q25	SVMT	118990705	119027085		Kunugi H et al. 2001	11443533			intron	solute carrier family 18 (vesicular monoamine), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC030593			KGB	6571	Hs.369009			Molecular psychiatry. 2001 Jul;6(4):456-60	Exon/intron boundaries novel polymorphisms and association analysis with schizophrenia of the human synaptic vesicle monoamine transporter (SVMT) gene.		193001	5566	1	2001												
134551	Y	alcohol abuse; nicotine dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Tobacco Use Disorder	10	10q25	SLC18A2	118990705	119027085		Schwab, S. G.  et al. 2005	15988470				Solute carrier family 18 (vesicular monoamine), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003054.2			CDC GDPinfo	6571	Hs.369009			Neuropsychopharmacology. 2005 Dec;30(12):2263-8	Association of DNA polymorphisms in the synaptic vesicular amine transporter gene (SLC18A2) with alcohol and nicotine dependence.		193001	13757	2	2005	We conclude that  DNA polymorphisms located in SLC18A2 might contribute to the development of substance dependence.											
134552	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q25	SLC18A2	118990705	119027085		Kariya, S.  et al. 2005	15850588				Solute carrier family 18 (vesicular monoamine), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003054.2	Japanese	Japan	CDC GDPinfo	6571	Hs.369009			Journal of the neurological sciences. 2005 May;232(2-Jan):91-4	Lack of association between polymorphic microsatellites of the VMAT2 gene and Parkinson's disease in Japan.		193001	19468	2	2005												
134547		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		18	18q11-q12	SLC14A1	41558156	41585297		Chiaroni, J.  et al. 2004	15754970				Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015865.1			CDC GDPinfo	6563	Hs.101307			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		111000	27616	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
134548	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	18	18q12.1-q21.1	SLC14A2	41001970	41517058		Ranade, K.  et al. 2001	11590132				Solute carrier family 14 (urea transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007163.2		China	CDC GDPinfo	8170	Hs.135642			Human molecular genetics. 2001 Sep;10(19):2157-64	Genetic variation in the human urea transporter-2 is associated with variation in blood pressure.		601611	19467	2	2001	The Ile227 and Ala357 alleles were associated with low diastolic BP in men but not women, with odds ratios 2.1 [95% confidence interval (CI) 1.5-2.7, P < 0.001] and 1.5 (95% CI 1.2-1.8, P < 0.001), respectively. There was a similar trend for systolic BP, and odds ratios for the Ile227 and Ala357 alleles were 1.7 (95% CI 1.2-2.3, P = 0.002) and 1.3 (95% CI 1.1-1.6, P = 0.007), respectively, in men.	Case Chinese hyperensive individuals;Control Chinese low-normotensive individuals										
134549		thyroid and neurological abnormalities	OTHER	OTH	Congenital Hypothyroidism|Nystagmus, Congenital|Quadriplegia|Hypothyroidism	X	Xq13.2	SLC16A2	73557809	73670475		Dumitrescu AM 2004	14661163				Solute carrier family 16 (monocarboxylic acid transporters), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006517.2			KGB	6567	Hs.75317			American journal of human genetics. 2004 Jan;74(1):168-75	A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.		300095	5565	1	2004												
134544	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	15	15q13-q15	SLC12A6	32309488	32417557		Meyer, J.  et al. 2005	16098236				Solute carrier family 12 (potassium/chloride transporters), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005135.1			CDC GDPinfo	9990	Hs.510939			The international journal of neuropsychopharmacology. 2005 Dec;8(4):495-504	Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.		604878	19465	2	2005												
134545		psoriasis vulgaris	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	3		SLC12A8	126284171	126480781		Huffmeier, U.  et al. 2005	16297188				Solute carrier family 12 (potassium/chloride transporters), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024628.4		Germany|Sweden	CDC GDPinfo	84561	Hs.592591			The Journal of investigative dermatology. 2005 Nov;125(5):906-12	Systematic Linkage Disequilibrium Analysis of SLC12A8 at PSORS5 Confirms a Role in Susceptibility to Psoriasis Vulgaris.			19466	2	2005	We conclude that  SLC12A8 is a susceptibility locus for PsV. In order to establish the exact nature of this association, efforts to identify the disease-causing variants are ongoing.											
134546		psoriasis vulgaris	IMMUNE	IMM		18	18q11-q12	SLC14A1	41558156	41585297		Liu, T. C.  et al. 2001	11852461				Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015865.1	Taiwanese		CDC GDPinfo	6563	Hs.101307			The Kaohsiung journal of medical sciences. 2001 Nov;17(11):552-5	A molecular genetic analysis of the Kidd blood group polymorphism in Taiwanese, Thais, and Filipinos.		111000	13756	2	2001	The frequency of Jka and Jkb is 0.51 and 0.49 in Taiwanese, 0.44 and 0.56 in Thais, and 0.45 and 0.55 in Filipinos, respectively.	Cohort 102 Filipino foreign laborers in Taiwan Cohort 107 Thais foreign laborers in Taiwan Cohort 177 unrelated Taiwanese 										
134541		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q13	SLC12A3	55456642	55504850		Song, Y.  et al. 2001	11564973				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1			CDC GDPinfo	6559	Hs.369271			Journal of hypertension. 2001 Sep;19(9):1547-51	Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans.		600968	25538	2	2001	These data exclude a primary role of the TSC gene in hypertension pathogenesis in the hypertension cohorts studied.	Control:220 unrelated normotensives northern Sardinia;Case:254 unrelated hypertensives northern Sardinia										
134542		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	16	16q13	SLC12A3	55456642	55504850		Matayoshi, T.  et al. 2004	15824464				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1			CDC GDPinfo	6559	Hs.369271			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		600968	28426	2	2004			thiazide diuretics									
134543	Y	agenesis of the corpus callosum	DEVELOPMENTAL	DEV	Peripheral Nervous System Diseases	15	15q13-q15	SLC12A6	32309488	32417557		Howard HC et al. 2002	12368912				solute carrier family 12 (potassium/chloride transporters), member 6			Canada	KGB	9990	Hs.510939			Nature genetics. 2002 Nov;32(3):384-92	The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.		604878	6650	1	2002												
134538	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q13	SLC12A3	55456642	55504850		Matsuo, A.  et al. 2004	15480096	G2736A			Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1	Japanese	Japan	CDC GDPinfo	6559	Hs.369271			Journal of hypertension. 2004 Nov;22(11):2123-7	G2736A polymorphism of thiazide-sensitive Na-Cl cotransporter gene predisposes to hypertension in young women.		600968	13754	2	2004	 G2736A polymorphism of the TSC gene is a genetic predisposing factor for essential hypertension in Japanese women.	Control:371 normotensive subjects;Case:386 hypertensives recruited from outpatients of Osaka University Hospital:Japan										
134539	Y	nephropathy in other diseases	RENAL	REN	Diabetic Retinopathy|Albuminuria|Diabetes Mellitus, Type 2	16	16q13	SLC12A3	55456642	55504850		Nishiyama, K.  et al. 2005	15915338				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1	Japanese	Japan	CDC GDPinfo	6559	Hs.369271			Diabetologia. 2005 Jul;48(7):1335-8	Polymorphism of the solute carrier family 12 (sodium/chloride transporters) member 3, SLC12A3, gene at exon 23 (+78G/A: Arg913Gln) is associatedwith elevation of urinary albumin excretion in Japanese patients with type 2 diabetes: a 10-yearlongitudinal		600968	13755	2	2005	The SLC12A3 +78A(+) genotype may have a protective effect against the development and/or progression of diabetic nephropathy in Japanese type 2 diabetic patients.	Cohort 264 Japanese patients with type 2 diabetes over a ten-year period 										
134540		Gitelman's syndrome	METABOLIC	MET	Alkalosis|Hypokalemia|Syndrome	16	16q13	SLC12A3	55456642	55504850		Maki, N.  et al. 2004	15069170				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1	Japanese	Japan	CDC GDPinfo	6559	Hs.369271			Nephrology, dialysis, transplantation. 2004 Jul;19(7):1761-6	Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome		600968	19464	2	2004	 We found four novel mutations in the NCCT gene in seven Japanese patients with GS. Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations.	Control healthy control subjects;Case patients with Gitelman's syndrome										
134535	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	15	15q15-q21.1	SLC12A1	46285790	46382417		Iwai, N.  et al. 2004	15167446				Solute carrier family 12 (sodium/potassium/chloride transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000338.1	Japanese	Japan	CDC GDPinfo	6557	Hs.123116			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		600839	28541	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
134536	N	polygenic hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q13	SLC12A3	55456642	55504850	n	Song Y et al. 2001	11564973				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1			KGB	6559	Hs.369271			Journal of hypertension. 2001 Sep;19(9):1547-51	Non-association of the thiazide-sensitive Na Cl-cotransporter gene with polygenic hypertension in both rats and humans.		600968	5564	1	2001	These data exclude a primary role of the TSC gene in hypertension pathogenesis in the hypertension cohorts studied.	Control:220 unrelated normotensives northern Sardinia;Case:254 unrelated hypertensives northern Sardinia										
134537	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies	16	16q13	SLC12A3	55456642	55504850		Tanaka, N.  et al. 2003	14578305				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1			CDC GDPinfo	6559	Hs.369271			Diabetes. 2003 Nov;52(11):2848-53	Association of solute carrier family 12 (sodium/chloride) member 3 with diabetic nephropathy, identified by genome-wide analyses of single nucleotide polymorphisms.		600968	13753	2	2003	The results implicated that substitution of Arg913 to Gln in the SLC12A3 gene might reduce the risk to develop diabetic nephropathy and suggested that the gene product might be a potential target for the prevention or treatment of this disease.	Case Japanese type 2 diabetic patients;Control:controls										
134532	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q13	SLC11A2	49659584	49708325		Jamieson, S. E.  et al. 2005	15644277				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000617.1			CDC GDPinfo	4891	Hs.505545			Neuroscience letters. 2005 Feb;374(2):124-8	Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.		600523	25537	2	2005	There was no interaction with apolipoprotein E (APOE) varepsilon4, but stratification by gender showed that all of the effect of SLC11A2 was in the male patient group. No other associations with AD were observed at SLC11A1 or SLC11A2, indicating no major effect of either gene for the occurrence of AD.	Case:216 late-onset Alzheimer's disease cases;Control:323 age-matched controls										
134533		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	15	15q15-q21.1	SLC12A1	46285790	46382417		Glorioso, N.  et al. 2001	11509477				Solute carrier family 12 (sodium/potassium/chloride transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000338.1			CDC GDPinfo	6557	Hs.123116			Hypertension. 2001 Aug;38(2):204-9	Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension		600839	23426	2	2001	The data are compelling that ATP1A1 and NKCC2 genes are candidate interacting hypertension-susceptibility loci in human essential hypertension and affirm gene interaction as an important genetic mechanism underlying hypertension susceptibility. Although corroboration in other cohorts and identification of functionally significant mutations are imperative next steps, the data provide a genotype-stratification scheme, with 4-fold predictive value (odds ratio, 4.28; 95% confidence interval, 2.29 to 8.0), which could help decipher the complex genetics of essential hypertension.	Case hypertensive patients (blood pressure >165/95 mm:Hg);Control normotensive controls age >60 years with BP<140/85mm Hg.										
134534		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	15	15q15-q21.1	SLC12A1	46285790	46382417		Song, Y.  et al. 2001	11564973				Solute carrier family 12 (sodium/potassium/chloride transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000338.1			CDC GDPinfo	6557	Hs.123116			Journal of hypertension. 2001 Sep;19(9):1547-51	Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans.		600839	23427	2	2001	These data exclude a primary role of the TSC gene in hypertension pathogenesis in the hypertension cohorts studied.	Control:220 unrelated normotensives northern Sardinia;Case:254 unrelated hypertensives northern Sardinia										
134529		Q fever	INFECTION	INF	Q Fever|Fatigue Syndrome, Chronic	2	2q35	SLC11A1	218954995	218969861		Helbig, K. J.  et al. 2003	12595908				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		600266	28399	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
134530		hemochromatosis	METABOLIC	MET	Hemochromatosis|Iron Overload	12	12q13	SLC11A2	49659584	49708325		Kelleher, T.  et al. 2004	15223008				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000617.1			CDC GDPinfo	4891	Hs.505545			Blood cells, molecules & diseases. 2004 Jul-Aug;33(1):35-9	DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.		600523	23424	2	2004	 Polymorphisms within DMT1 gene do not influence penetrance of the HH phenotype.	Cohort ;Case:101 unrelated C282Y homozygotes;Control:103 C282Y negative controls										
134531		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q13	SLC11A2	49659584	49708325		Hoal, E. G.  et al. 2004	15636493				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000617.1		South Africa	CDC GDPinfo	4891	Hs.505545			The international journal of tuberculosis and lung disease. 2004 Dec;8(12):1464-71	SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa.		600523	23425	2	2004	 The 5' (GT)n allele driving the highest rate of transcription of SLC11A1 appears to be associated with protection against TB in the majority of the populations studied.	Case:224 pulmonary tuberculosis patients;Control:265:controls										
134526		Chagas Disease	INFECTION	INF	Chagas Disease	2	2q35	SLC11A1	218954995	218969861		Moreno, M.  et al. 2004	15191519				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		600266	27993	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
134527		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	2	2q35	SLC11A1	218954995	218969861		Akahoshi, M.  et al. 2004	15004750				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Japan	CDC GDPinfo	6556	Hs.591607			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		600266	28109	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
134528		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	2	2q35	SLC11A1	218954995	218969861		Forre, O.  et al. 2002	12195624				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		600266	28257	2	2002	Review article											
134523		leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Fitness, J.  et al. 2002	12486602				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Genes and immunity. 2002 Dec;3(8):441-53	Genetics of susceptibility to leprosy.		600266	23423	2	2002	Review article											
134524		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Delgado, J. C.  et al. 2002	12404162				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			The Journal of infectious diseases. 2002 Nov;186(10):1463-8	Ethnic-specific genetic associations with pulmonary tuberculosis.		600266	25536	2	2002	The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.	Control:106 tuberculin-positive controls subjects;Case:358 Cambodian patients with pulmonary TB:Cambodia										
134525		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Fitness, J.  et al. 2004	15381817				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Malawian	Malawi	CDC GDPinfo	6556	Hs.591607			The American journal of tropical medicine and hygiene. 2004 Sep;71(3):341-9	Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.		600266	26569	2	2004	Genetic susceptibility to TB in Africans appears polygenic. The relevant genes and variants may vary significantly between populations, and may be affected by HIV infection status.	Case:514 tuberculosis cases Karonga district, northern Malawi;Control:913:controls	HIV									
134520	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Crawford, N. P.  et al. 2005	15757519				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			BMC medical genetics [electronic resource]. 2005 Mar;6:10	Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene.		600266	19461	2	2005	 Our results therefore refute previous studies that have shown SLC11A1 promoter polymorphisms are involved in susceptibility to this form of IBD.	Control:144 population controls;Case:484 Caucasians with inflammatory bowel disease										
134521	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Jamieson, S. E.  et al. 2005	15644277				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Neuroscience letters. 2005 Feb;374(2):124-8	Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.		600266	23421	2	2005	There was no interaction with apolipoprotein E (APOE) varepsilon4, but stratification by gender showed that all of the effect of SLC11A2 was in the male patient group. No other associations with AD were observed at SLC11A1 or SLC11A2, indicating no major effect of either gene for the occurrence of AD.	Case:216 late-onset Alzheimer's disease cases;Control:323 age-matched controls										
134522		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Runstadler, J. A.  et al. 2005	15641099				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Finnish	Finland	CDC GDPinfo	6556	Hs.591607			Arthritis and rheumatism. 2005 Jan;52(1):247-56	Association of SLC11A1 (NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: haplotype analysis in Finnishfamilies.		600266	23422	2	2005	 Taken together, these data provide support for the existence of a locus at or near SLC11A1 that is a strong susceptibility factor for JIA in Finnish patients.	Case:234 Finnnish juvenile idiopathic arthritis nuclear:families:Finland;Control:639 elderly Finnish controls without a history of juvenile idiopathic arthritis										
134517	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Hoal, E. G.  et al. 2004	15636493				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		South Africa	CDC GDPinfo	6556	Hs.591607			The international journal of tuberculosis and lung disease. 2004 Dec;8(12):1464-71	SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa.		600266	13752	2	2004	 The 5' (GT)n allele driving the highest rate of transcription of SLC11A1 appears to be associated with protection against TB in the majority of the populations studied.	Case:224 pulmonary tuberculosis patients;Control:265:controls										
134518		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q35	SLC11A1	218954995	218969861		Kotze, M. J.  et al. 2001	11358358				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	South African	South Africa	CDC GDPinfo	6556	Hs.591607			Blood cells, molecules & diseases. 2001 Jan-Feb;27(1):44-53	Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis andage effects.		600266	19454	2	2001	We conclude that  allelic variation in the NRAMP1 promoter may contribute significantly to MS susceptibility in the South African Caucasian population.	Case:104 patients diagnosed with multiple sclerosis;Control:32 parental alleles not transmitted to MS offspring;Control:522 Caucasian controls										
134519		sarcoidosis	IMMUNE	IMM	Tuberculosis, Pulmonary|Sarcoidosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Dubaniewicz, A.  et al. 2005	15702130				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Poland	CDC GDPinfo	6556	Hs.591607			European journal of human genetics. 2005 Jul;13(7):829-34	Association between SLC11A1 (formerly NRAMP1) and the risk of sarcoidosis in Poland.		600266	19460	2	2005	Consistent with previous autoimmune disease studies, allele 3 at the functional (GT)(n) promoter region repeat polymorphism was significantly associated with SA when compared with	Control:85/93 tuberculosis cases (n=85) and control subjects:(n=93);Case:86 sarcoidosis patients										
134514	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Zaahl, M. G.  et al. 2005	15860357				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	South African	South Africa	CDC GDPinfo	6556	Hs.591607			Cancer genetics and cytogenetics. 2005 May;159(1):48-52	Association of functional polymorphisms of SLC11A1 with risk of esophageal cancer in the South African Colored population.		600266	13749	2	2005	We demonstrate association of genetic variation in both the promoter region and intron 1 of the SLC11A1 gene with EC susceptibility.	Case:105 esophageal cancer cases South Africa;Control:110 population-matched controls										
134515		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q35	SLC11A1	218954995	218969861		Nishino, M.  et al. 2005	15877293			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Japanese		CDC GDPinfo	6556	Hs.591607			Metabolism:  clinical and experimental. 2005 May;54(5):628-33	Functional polymorphism in Z-DNA-forming motif of promoter of SLC11A1 gene and type 1 diabetes in Japanese subjects: Association study andmeta-analysis		600266	13750	2	2005	Because allele 2 was shown to be associated with low expression of SLC11A1 and protection against another autoimmune disease, rheumatoid arthritis, the negative association of allele 2 with autoimmune type 1 diabetes in the present study suggests that a less active immune system in subjects with allele 2 may protect individuals from autoimmune diseases.	Control:controls;Case Japanese type 1 diabetic subjects										
134516		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Malik, S.  et al. 2005	16103355				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Texas	CDC GDPinfo	6556	Hs.591607			Proceedings of the National Academy of Sciences of the United States of America. 2005 Aug;102(34):12183-8	Alleles of the NRAMP1 gene are risk factors for pediatric tuberculosis disease.		600266	13751	2	2005												
134511	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Duan, H. F.  et al. 2003	12892615				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Caucasian		CDC GDPinfo	6556	Hs.591607			Zhonghua jie he he hu xi za zhi. 2003 May;26(5):286-9	[A study on the association of 3'UTR polymorphisms of NRAMP1 gene with susceptibility to tuberculosis in Hans]		600266	13746	2	2003	 3'UTR polymorphisms of NRAMP1 gene are associated with susceptibility to tuberculosis in Hans. The variant allele observed in Hans is more common than that in Caucasians. These observations might explain in part why Hans have greater susceptibility to tuberculosis than Caucasians.	Control:145 healthy individuals;Case:147 patients with active tuberculosis										
134512		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Liu, W.  et al. 2003	14703493				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Chinese		CDC GDPinfo	6556	Hs.591607			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2003 Nov;37(6):408-11	[A case-control study on natural-resistance-associated macrophae protein 1 gene polymorphisms and susceptibility to pulmonary tuberculosis]		600266	13747	2	2003	 Polymorphisms of D543N and 3'UTR locus in NRAMP1 gene might affect their susceptibility to TB in Chinese Han population.	Case:110 Chinese Han cases of pulmonary tuberculosis;Control:180 healthy controls										
134513	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Comabella, M.  et al. 2004	15584484				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Spanish	Spain	CDC GDPinfo	6556	Hs.591607			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Dec;10(6):618-20	Genetic analysis of SLC11A1 polymorphisms in multiple sclerosis patients.		600266	13748	2	2004	We found no evidence of association between SLC11A1 polymorphisms and MS susceptibility in the Spanish population.	Control:125 control subjects;Case:195 patients with multiple sclerosis:Spain										
134508		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	2	2q35	SLC11A1	218954995	218969861		Calhoun, E. S.  et al. 2002	12142377				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Clinical chemistry. 2002 Aug;48(8):1218-24	Host genetic polymorphism analysis in cervical cancer.		600266	13743	2	2002	 We identified host genetic polymorphisms that may be associated with cervical cancer risk, some of which have been linked to potential functional effects on cellular immune responses or antigen processing. We failed to confirm earlier reports of increased cervical cancer susceptibility in women who harbor the p53 P72R allele. Although our findings support the general hypothesis that host immunogenetic determinants other than class II MHC may be important in the development of cervical cancer, further analysis of the HLA gene cluster comprising the implicated TNFalpha single-nucleotide polymorphisms will be required to determine whether their association is linkage independent.	Control:108 female blood donors;Case:127 cervical cancer patients										
134509		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Ma, X.  et al. 2002	12234138				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Caucasian	Texas	CDC GDPinfo	6556	Hs.591607			The international journal of tuberculosis and lung disease. 2002 Sep;6(9):818-23	5' dinucleotide repeat polymorphism of NRAMP1 and susceptibility to tuberculosis among Caucasian patients in Houston, Texas.		600266	13744	2	2002	 These findings suggest that the 5'(GT)n polymorphism of NRAMP1 modifies TB susceptibility in this Caucasian population, and could possibly be related to the site of infection among HIV-negative individuals and HIV-coinfected TB.	Cohort 108 adult Caucasian HIV-seronegative non-TB controls ;Case:135 adult Caucasian TB patients										
134510	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Awomoyi, A. A.  et al. 2002	12447767				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Gambia	CDC GDPinfo	6556	Hs.591607			The Journal of infectious diseases. 2002 Dec;186(12):1808-14	Interleukin-10, polymorphism in SLC11A1 (formerly NRAMP1), and susceptibility to tuberculosis.		600266	13745	2	2002	These data therefore confirm the importance of SLC11A1 in tuberculosis susceptibility in humans and suggest that SLC11A1 influences tuberculosis susceptibility by regulation of interleukin-10.	Control:324 control subjects;Case:329 tuberculosis case patients										
134505		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Alm, J. S.  et al. 2002	11960304				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Genes and immunity. 2002 Apr;3(2):71-7	Atopy in children in relation to BCG vaccination and genetic polymorphisms at SLC11A1 (formerly NRAMP1) and D2S1471.		600266	13740	2	2002	Stratification by BCG vaccination unmasked a potential genetic risk factor for atopy in the region of the SLC11A1 locus, and point to the importance of genotype by environment interactions in determining disease susceptibility.	Case:179 children vaccinated with BCG in infancy;Control:307 children not vaccinated with BCG	BCG vaccination									
134506		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Rodriguez, M. R.  et al. 2002	12135431			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Tissue antigens. 2002 Apr;59(4):311-5	Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis.		600266	13741	2	2002	In conclusion, NRAMP1 gene promoter polymorphism could influence the radiological severity of rheumatoid arthritis and disease susceptibility, particularly in individuals lacking HLA-linked risk factors.	Case:141 Spanish patients with rheumatoid arthritis;Control:194:controls										
134507		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Bassuny, W. M.  et al. 2002	12136340			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Japan	CDC GDPinfo	6556	Hs.591607			Immunogenetics. 2002 Jul;54(4):282-5	Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes.		600266	13742	2	2002	The association study of the cytotoxic T lymphocyte-associated antigen-4 ( CTLA-4) gene, located near the NRAMP1 gene, and type 1 diabetes showed that the CTLA-4 gene significantly contributed to the development of type 1 diabetes, whereas NRAMP1 had an additional effect on the onset of type 1 diabetes in the young population.	Control:200 normal children;Case:206 type 1 diabetes patients										
134502	N	cardiac disease, chagasic	INFECTION	INF	Chagas Disease|Chagas Cardiomyopathy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Calzada, J. E.  et al. 2001	11380946				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDPinfo	6556	Hs.591607			Tissue antigens. 2001 Apr;57(4):353-7	Lack of association between NRAMP1 gene polymorphisms and Trypanosoma cruzi infection.		600266	13737	2	2001	Our data suggest that the NRAMP1 genetic polymorphism analysed do not play a major role in the pathogenesis of T. cruzi infection in this Peruvian sample.	Control Trypanosoma cruzi seronegative individuals;Case:32 cardiomyopathic, Trypanosoma cruzi seropositive:individuals;Control:51 asymptomatic, Trypanosoma cruzi seropositive:individuals										
134503		leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Meisner, S. J.  et al. 2001	11791966				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Mali	CDC GDPinfo	6556	Hs.591607			The American journal of tropical medicine and hygiene. 2001 Dec;65(6):733-5	Association of NRAMP1 polymorphism with leprosy type but not susceptibility to leprosy per se in west Africans.		600266	13738	2	2001	Thus, variation in or near the NRAMP1 gene may exert an influence on the clinical presentation of leprosy, possibly by influencing cellular immune response type.	Control:201 controls from Mali;Case:273 patients with leprosy:Mali										
134504	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Kojima, Y.  et al. 2001	11929588			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Japanese	Japan	CDC GDPinfo	6556	Hs.591607			Tissue antigens. 2001 Dec;58(6):379-84	Inflammatory bowel disease is associated with a novel promoter polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene.		600266	13739	2	2001	Therefore, our findings suggest that the novel promoter polymorphism of the NRAMP1 gene may influence susceptibility to IBD in the Japanese population.											
134499		susceptibility to HIV-1	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Donninger H 2004	15060125			5' promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			KGB	6556	Hs.591607			Journal of medical genetics. 2004 Apr;41(4):e49	Functional analysis of novel SLC11A1 (NRAMP1) promoter variants in susceptibility to HIV-1.		600266	5561	1	2004												
134500	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	2	2q35	NRAMP	218954995	218969861		Hofmeister A et al. 1997	9288120				solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209650			KGB	6556	Hs.471393			Surgery. 1997 Aug;122(2):173-8; discussion 178-9	The natural resistance-associated macrophage protein gene is associated with Crohn's disease.		600266	5562	1	1997	 This study is the first to report an association between the NRAMP gene and Crohn's disease.											
134501		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	2	2q35	NRAMP	218954995	218969861		Maliarik MJ et al. 2000	10837363				solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209650		United States	KGB	6556	Hs.471393			American journal of respiratory cell and molecular biology. 2000 Jun;22(6):672-5	The natural resistance-associated macrophage protein gene in African Americans with sarcoidosis.		600266	5563	1	2000												
134495		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Bassuny WM et al. 2002	12136340			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Japan	KGB	6556	Hs.591607			Immunogenetics. 2002 Jul;54(4):282-5	Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes.		600266	5557	1	2002	The association study of the cytotoxic T lymphocyte-associated antigen-4 ( CTLA-4) gene, located near the NRAMP1 gene, and type 1 diabetes showed that the CTLA-4 gene significantly contributed to the development of type 1 diabetes, whereas NRAMP1 had an additional effect on the onset of type 1 diabetes in the young population.	Control:200 normal children;Case:206 type 1 diabetes patients										
134496	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Bassuny WM et al. 2002	12136340				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Janpanese	Japan	Y Wang	6556	Hs.591607			Immunogenetics. 2002 Jul;54(4):282-5	Association study of the NRAMP1 gene promoter polymorphism and early-onset type 1 diabetes.		600266	5558	1	2002	The association study of the cytotoxic T lymphocyte-associated antigen-4 ( CTLA-4) gene, located near the NRAMP1 gene, and type 1 diabetes showed that the CTLA-4 gene significantly contributed to the development of type 1 diabetes, whereas NRAMP1 had an additional effect on the onset of type 1 diabetes in the young population.	Control:200 normal children;Case:206 type 1 diabetes patients										
134497		susceptibility to visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Disease Susceptibility	2	2q35	SLC11A1	218954995	218969861		Mohamed HS 2004	14523377				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Sudan	KGB	6556	Hs.591607			European journal of human genetics. 2004 Jan;12(1):66-74	SLC11A1 (formerly NRAMP1) and susceptibility to visceral leishmaniasis in The Sudan.		600266	5559	1	2004												
134492		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases	2	2q35	SLC11A1	218954995	218969861		Stokkers PC et al. 1999	10207725				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			KGB	6556	Hs.591607			International journal of colorectal disease. 1999 Feb;14(1):13-7	Inflammatory bowel disease and the genes for the natural resistance-associated macrophage protein-1 and the interferon-gamma receptor 1.		600266	5554	1	1999												
134493	Y	microscopy-positive tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Soborg C et al. 2002	12195379				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Denmark	KGB	6556	Hs.591607			The Journal of infectious diseases. 2002 Aug;186(4):517-21	Natural resistance-associated macrophage protein 1 polymorphisms are associated with microscopy-positive tuberculosis.		600266	5555	1	2002												
134494	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Rodriguez MR et al. 2002	12135431			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			KGB	6556	Hs.591607			Tissue antigens. 2002 Apr;59(4):311-5	Association of NRAMP1 promoter gene polymorphism with the susceptibility and radiological severity of rheumatoid arthritis.		600266	5556	1	2002	In conclusion, NRAMP1 gene promoter polymorphism could influence the radiological severity of rheumatoid arthritis and disease susceptibility, particularly in individuals lacking HLA-linked risk factors.	Case:141 Spanish patients with rheumatoid arthritis;Control:194:controls										
134489	Y	susceptibility to tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Cervino AC et al. 2000	11281214				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Guinea-Bissau	KGB	6556	Hs.591607			Annals of human genetics. 2000 Nov;64(Pt 6):507-12	Allelic association between the NRAMP1 gene and susceptibility to tuberculosis in Guinea-Conakry.		600266	5551	1	2000												
134490	N	leprosy susceptibility	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861	n	Roger M et al. 1997	9251591				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Polynesia	KGB	6556	Hs.591607			International journal of leprosy and other mycobacterial diseases. 1997 Jun;65(2):197-202	No evidence for linkage between leprosy susceptibility and the human natural resistance-associated macrophage protein 1 (NRAMP1) gene in French Polynesia.		600266	5552	1	1997												
134491		leprosy type	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Meisner SJ et al. 2001	11791966				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Mali	KGB	6556	Hs.591607			The American journal of tropical medicine and hygiene. 2001 Dec;65(6):733-5	Association of NRAMP1 polymorphism with leprosy type but not susceptibility to leprosy per se in west Africans.		600266	5553	1	2001	Thus, variation in or near the NRAMP1 gene may exert an influence on the clinical presentation of leprosy, possibly by influencing cellular immune response type.	Control:201 controls from Mali;Case:273 patients with leprosy:Mali										
134486		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q35	SLC11A1	218954995	218969861		Kotze MJ et al. 2001	11358358				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		South Africa	KGB	6556	Hs.591607			Blood cells, molecules & diseases. 2001 Jan-Feb;27(1):44-53	Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects.		600266	5548	1	2001	We conclude that  allelic variation in the NRAMP1 promoter may contribute significantly to MS susceptibility in the South African Caucasian population.	Case:104 patients diagnosed with multiple sclerosis;Control:32 parental alleles not transmitted to MS offspring;Control:522 Caucasian controls										
134487	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Ryu S et al. 2000	10864190				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Korean	Korea	KGB	6556	Hs.591607			The international journal of tuberculosis and lung disease. 2000 Jun;4(6):577-80	3'UTR polymorphisms in the NRAMP1 gene are associated with susceptibility to tuberculosis in Koreans.		600266	5549	1	2000	 This study showed that genetic variations in the human NRAMP1 gene are associated with susceptibility to smear-positive tuberculosis in Korean patients. The 3'UTR variant allele associated with susceptibility to tuberculosis is very uncommon in Caucasians, but is present in Koreans and West Africans. These observations may explain in part why African Americans and Koreans have greater susceptibility to tuberculosis than Caucasians.											
134488		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		John S et al. 1997	9058648				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			KGB	6556	Hs.591607			The Journal of rheumatology. 1997 Mar;24(3):452-7	Linkage and association studies of the natural resistance associated macrophage protein 1 (NRAMP1) locus in rheumatoid arthritis.		600266	5550	1	1997	 In a subset of sib-pairs that shared one or zero HLA haplotypes, LOD scores suggestive of linkage were observed. This suggests a role for NRAMP1 polymorphism in a subset of patients who do not possess HLA susceptibility alleles.											
134483		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Cox NJ 2001	11507694				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			KGB	6556	Hs.591607			American journal of human genetics. 2001 Oct;69(4):820-30			600266	5545	1	2001												
134484	N	Trypanosoma	INFECTION	INF	Chagas Disease|Chagas Cardiomyopathy|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861	n	Calzada JE 2001	11380946	NRAMP1 polymorphisms 5` (GT)n. -263 C-->T. D543N. and 3`UTR deletion			Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Peruvian		KGB	6556	Hs.591607			Tissue antigens. 2001 Apr;57(4):353-7	Lack of association between NRAMP1 gene polymorphisms and Trypanosoma cruzi infection.		600266	5546	1	2001	Our data suggest that the NRAMP1 genetic polymorphism analysed do not play a major role in the pathogenesis of T. cruzi infection in this Peruvian sample.	Control Trypanosoma cruzi seronegative individuals;Case:32 cardiomyopathic, Trypanosoma cruzi seropositive:individuals;Control:51 asymptomatic, Trypanosoma cruzi seropositive:individuals										
134485	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Sanjeevi CB et al. 2000	10857800				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Latvia|Russia	KGB	6556	Hs.591607			Arthritis and rheumatism. 2000 Jun;43(6):1397-404	Polymorphism at NRAMP1 and D2S1471 loci associated with juvenile rheumatoid arthritis.		600266	5547	1	2000	 The NRAMP1 allele conferring susceptibility to JRA drives high levels of NRAMP1 expression, while the allele associated with protection drives low levels. These 2 alleles are inversely associated with susceptibility to infectious disease, consistent with their maintenance in populations through balancing selection.											
134480	Y	colorectal adenomas	CANCER	CAN	Adenoma|Colorectal Neoplasms	13	13q33	SLC10A2	102494350	102517197		Wang W et al. 2001	11535543				Solute carrier family 10 (sodium/bile acid cotransporter family), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000452.1			KGB	6555	Hs.194783			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):931-6	An association between genetic polymorphisms in the ileal sodium-dependent bile acid transporter gene and the risk of colorectal adenomas.		601295	8137	1	2001	This initial observation of an association between a polymorphism in the SLC10A2 gene and the risk of colorectal adenomatous polyps would, if confirmed by other studies, support the role of bile acids in the carcinogenesis of colorectal cancer.	Case not specified in abstract;Control not specified in abstract										
134481	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	13	13q33	SLC10A2	102494350	102517197		Wang, W.  et al. 2001	11535543				Solute carrier family 10 (sodium/bile acid cotransporter family), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000452.1			CDC GDPinfo	6555	Hs.194783			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):931-6	An association between genetic polymorphisms in the ileal sodium-dependent bile acid transporter gene and the risk of colorectal adenomas.		601295	13736	2	2001	This initial observation of an association between a polymorphism in the SLC10A2 gene and the risk of colorectal adenomatous polyps would, if confirmed by other studies, support the role of bile acids in the carcinogenesis of colorectal cancer.	Case not specified in abstract;Control not specified in abstract										
134482	Y	Inflammatory Bowel Disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861	P=0.015?	Kojima Y 2001	11929588	2. 3. and 7			Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Japanese	Japan	KGB	6556	Hs.591607			Tissue antigens. 2001 Dec;58(6):379-84	Inflammatory bowel disease is associated with a novel promoter polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene.		600266	5544	1	2001	Therefore, our findings suggest that the novel promoter polymorphism of the NRAMP1 gene may influence susceptibility to IBD in the Japanese population.											
134477	Y	longevity	AGING	AGE		11	11p15.5	SIRT3	205030	226361		Bellizzi, D.  et al. 2005	15676284				Sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012239.4			CDC GDPinfo	23410	Hs.19306			Genomics. 2005 Feb;85(2):258-63	A novel VNTR enhancer within the SIRT3 gene, a human homologue of SIR2, is associated with survival at oldest ages		604481	19451	2	2005	Thus the underexpression of a human sirtuin gene seems to be detrimental for longevity as it occurs in model organisms.	Cohort 945 individuals (20-106 years) 										
134478	N	anophthalmia; coloboma; microphthalmia	DEVELOPMENTAL	DEV	Anophthalmos|Coloboma|Microphthalmos	14	14q22.3-q23	SIX6	60045774	60048278		Aijaz, S.  et al. 2004	15505031				Sine oculis homeobox homolog 6 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007374.1			CDC GDPinfo	4990	Hs.194756			Investigative ophthalmology & visual science. 2004 Nov;45(11):3871-6	Absence of SIX6 Mutations in Microphthalmia, Anophthalmia, and Coloboma		606326	19452	2	2004	 No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.	Control unaffected individuals;Case:173 patients with microphthalmia, anophthalmia, and:coloboma										
134479	N	EBV-associated lymphoproliferative disease	OTHER	OTH	Lymphoproliferative Disorders	1	1q22-q23	SLAMF1	158846512	158883493	n	Ferrand V et al. 2003	12629654	all eight exons of SLAM			Signaling lymphocytic activation molecule family member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003037.1	EBV-associated lymphoproliferative disease patients		KGB	6504	Hs.523660			Journal of medical virology. 2003 May;70(1):131-6	Absence of SLAM mutations in EBV-associated lymphoproliferative disease patients.		603492	5398	1	2003		Case:31										
134474		short stature	DEVELOPMENTAL	DEV	Growth Disorders	X	Xpter-p22.32 -Yp11.3	SHOX	505078	540146		Rappold, G. A.  et al. 2002	11889216				Short stature homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000451.3			CDC GDPinfo	6473	Hs.105932			The Journal of clinical endocrinology and metaboli	Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.		400020	19449	2	2002	We conclude that  SHOX mutations have been detected in 2.4% of children with short stature. The spectrum of SHOX mutations is biased, with the vast majority leading to complete gene deletions. The prevalence of short stature due to SHOX gene mutations among children with short stature appears to be similar to that of GH deficiency or Turner syndrome. Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity.											
134475		schizophrenia	PSYCH	PSY	Schizophrenia	15	15q26	ST8SIA2	90738143	90812962		Arai, M.  et al. 2005	16229822			promoter	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006011.3			CDC GDPinfo	8128	Hs.302341			Biological psychiatry. 2005	Association Between Polymorphisms in the Promoter Region of the Sialyltransferase 8B (SIAT8B) Gene and Schizophrenia.		602546	14092	2	2005	 The present study suggests that functional promoter SNPs of SIAT8B could confer a risk for schizophrenia in the Japanese population.											
134476	N	longevity	AGING	AGE		10	10q21.3	SIRT1	69314432	69348149		Flachsbart, F.  et al. 2005	16257164				Sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012238.3			CDC GDPinfo	23411	Hs.369779			Experimental gerontology. 2006 Jan;41(1):98-102	Sirtuin 1 (SIRT1) sequence variation is not associated with exceptional human longevity.		604479	19450	2	2005												
134471	Y	drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	17	17p11.2	SHMT1	18171911	18207581		de Jonge, R.  et al. 2005	15797993				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		182144	27215	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
134472		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	12	12q12-q14	SHMT2	55909818	55914981	ns	Relton CL 2004	15060097	1420C-->T, CbetaS 844ins68,			Serine hydroxymethyltransferase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005412.4		Great Britain	KGB	6472	Hs.75069			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		138450	5397	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:200; Control:599										
134473	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	12	12q12-q14	SHMT2	55909818	55914981		Heil, S. G.  et al. 2001	11386852				Serine hydroxymethyltransferase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005412.4			CDC GDPinfo	6472	Hs.75069			Molecular genetics and metabolism. 2001 Jun;73(2):164-72	Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?		138450	23420	2	2001	the results of this study provide no direct evidence for a role of defective SHMT functioning in NTD. Still, the influence of the 1420 C>T polymorphism of the cSHMT gene on the folate-related risk of NTD needs further investigation.	Case:109 patients with spina bifida;Case:120 mothers of children with spina bifida;Control:420 recruited from a general practice (n=317), healthy hospital employees (n=103)										
134468		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Relton, C. L.  et al. 2004	15060097				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3		Great Britain	CDC GDPinfo	6470	Hs.513987			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		182144	25535	2	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:530 individuals from families affected by NTD northern UK;Control:645/602 maternal controls (n=645) and healthy newborn:controls (n=602)										
134469		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	17	17p11.2	SHMT1	18171911	18207581		Skibola, C. F.  et al. 2004	15198953				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Blood. 2004 Oct;104(7):2155-62	Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma.		182144	26567	2	2004	The associations of DLCL and FL with TYMS 1494del6 and MTHFR 677TT genotypes, respectively, suggest that folate metabolism may play an important role in the pathogenesis of specific subtypes of NHL.	Control:controls;Case non-Hodgkin lymphoma cases San Francisco Bay Area, US:1988 - 1995										
134470		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Pregnancy Complications|Folic Acid Deficiency	17	17p11.2	SHMT1	18171911	18207581		Relton, C. L.  et al. 2004	15059614				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Molecular genetics and metabolism. 2004 Apr;81(4):273-81	Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy.		182144	26568	2	2004	Possession of compound 1298A C and 677C T variants elevated risk of NTD pregnancy considerably. Erythrocyte folate levels were persistently lower in NTD mothers despite assays being conducted many years after the index pregnancy (17.6+/-12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677C T variant.	Control pregnant controls and non-pregnant controls from the same geographical region;Case:97 mothers of NTD cases northern UK										
134465		hyperhomocysteinemia	METABOLIC	MET	Hyperhomocysteinemia|Folic Acid Deficiency|Vitamin B 12 Deficiency	17	17p11.2	SHMT1	18171911	18207581		Geisel, J.  et al. 2003	14656021				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Clinical chemistry and laboratory medicine. 2003 Nov;41(11):1427-34	The role of genetic factors in the development of hyperhomocysteinemia.		182144	25532	2	2003	In conclusion, the study on vegetarians and seniors documents interesting lifestyle-genotype interactions. Although the TC and COMT mutations influence cellular vitamin B12 metabolism, this effect did not result in overt homocysteine elevation.	Cohort 111/118 										
134466		leukemia, adult acute lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Skibola, C. F.  et al. 2002	11986237				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Blood. 2002 May;99(10):3786-91	Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.		182144	25533	2	2002	This study suggests an important role for uracil misincorporation and resultant chromosomal damage in the pathogenesis of ALL, and that genetic interactions involving low penetrance polymorphisms in folate-metabolizing genes may increase ALL risk.											
134467		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	17	17p11.2	SHMT1	18171911	18207581			16365025				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2999-3003	Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes		182144	25534	2	2005												
134462	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	17	17p11.2	SHMT1	18171911	18207581		Heil, S. G.  et al. 2001	11386852				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Molecular genetics and metabolism. 2001 Jun;73(2):164-72	Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?		182144	19448	2	2001	the results of this study provide no direct evidence for a role of defective SHMT functioning in NTD. Still, the influence of the 1420 C>T polymorphism of the cSHMT gene on the folate-related risk of NTD needs further investigation.	Case:109 patients with spina bifida;Case:120 mothers of children with spina bifida;Control:420 recruited from a general practice (n=317), healthy hospital employees (n=103)										
134463		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17p11.2	SHMT1	18171911	18207581		Lim, U.  et al. 2005	16046727				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			The Journal of nutrition. 2005 Aug;135(8):1989-94	Polymorphisms in cytoplasmic serine hydroxymethyltransferase and methylenetetrahydrofolate reductase affect the risk of cardiovascular disease in men.		182144	23419	2	2005												
134464		colorectal cancer; folate, erythrocyte	CANCER	CAN	Colorectal Neoplasms	17	17p11.2	SHMT1	18171911	18207581		Chen, J.  et al. 2004	15122597				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):617-20	Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study.		182144	25531	2	2004	Findings from our prospective investigation indicate that these newly identified polymorphisms in one-carbon metabolizing genes have limited functionality in modifying folate status and related CRC risk.	Case:270 incident colorectal cancer cases;Control:453:controls										
134458	N	oral clefts	OTHER	OTH	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	7	7q36	SHH	155285496	155297728		Orioli, I. M.  et al. 2002	11857543				Sonic hedgehog homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000193.2	South American	South America	CDC GDPinfo	6469	Hs.164537			American journal of medical genetics. 2002 Feb;108(1):5-Dec	Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.		600725	19446	2	2002	Thus, we did not identify any clearly disease-causing mutation in SHH in these patients, and conclude that SHH mutations are not a frequent cause of isolated oral clefts in humans	Case:220 newborn infants with nonsyndromic oral clefts South America										
134459		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q36	SHH	155285496	155297728		Bak, M.  et al. 2004	15249145			promoter	Sonic hedgehog homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000193.2			CDC GDPinfo	6469	Hs.164537			Brain research  Molecular brain research. 2004 Jul;126(2):207-11	Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients.		600725	19447	2	2004	None of the identified sequence variations were present at a significantly different frequency in PD patients compared to healthy individuals, suggesting that they are not involved in the pathogenesis of PD.	Control healthy individuals;Case patients with Parkinson's disease										
134460		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Hishida, A.  et al. 2003	12604405				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Haematologica. 2003 Feb;88(2):159-66	Associations between polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and susceptibility to malignant lymphoma.		182144	13733	2	2003	 This study suggests that genetic traits involving low penetrance polymorphisms in folate-metabolizing genes may modulate the risk of malignant lymphoma.	Case:118 hospital based malignant lymphoma cases;Control:494 controls without cancer										
134454	N	longevity	AGING	AGE		1	1q21	SHC1	153201397	153213464		Kamei, H.  et al. 2003	14530863				SHC (Src homology 2 domain containing) transforming protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183001.3	Japanese		CDC GDPinfo	6464	Hs.433795			Journal of molecular medicine (Berlin, Germany). 2003 Nov;81(11):724-8	Association analysis of the SHC1 gene locus with longevity in the Japanese population		600560	19444	2	2003	We investigated the possible association of SHC1 with longevity using association analyses with allelotypes and haplotypes but found that the SNPs identified in SHC1 had no impact on longevity for Japanese centenarians.	Control:180 healthy younger controls;Case:230 Japanese centenarians										
134455		longevity	AGING	AGE		1	1q21	SHC1	153201397	153213464		Mooijaart, S. P.  et al. 2004	15036421				SHC (Src homology 2 domain containing) transforming protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183001.3			CDC GDPinfo	6464	Hs.433795			Experimental gerontology. 2004 Feb;39(2):263-8	Variation in the SHC1 gene and longevity in humans.		600560	19445	2	2004	These data suggest that an association between the Met(410)Val polymorphism and longevity in humans may exist.	Cohort 30/30 30 young and 30 extreme long-lived subjects 										
134456	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q21	SHC1	153201397	153213464		Wagner, K.  et al. 2004	15308584				SHC (Src homology 2 domain containing) transforming protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183001.3		Poland|Germany	CDC GDPinfo	6464	Hs.433795			Carcinogenesis. 2004 Dec;25(12):2473-8	The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect inbreast cancer.		600560	25530	2	2004	A genotype combination analysis of the nonsynonymous polymorphisms in the IRS1, IRS2 and SHC1 genes did not show any effect on breast cancer risk.	Control:controls;Case Polish familial breast cancer cases										
134450		estradiol; sex hormone binding globulin	UNKNOWN	UNK	Breast Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Low, Y. L.  et al. 2005	15668497				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2		Europe	CDC GDPinfo	6462	Hs.632235			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):213-20	Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions.		182205	26566	2	2005	We conclude that  higher isoflavone exposure is associated with lower plasma estradiol in postmenopausal women and that this preliminary study is suggestive of the involvement of diet-gene interactions.	Cohort 125 free-living postmenopausal women taking part in a cohort study (European Prospective Investigation of Cancer and Nutrition-Norfolk) 	isoflavones phytoestrogen									
134451	Y	hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13-p12	SHBG	7472098	7477395		Dunning, A. M.  et al. 2004	15199113				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2		England	CDC GDPinfo	6462	Hs.632235			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		182205	27615	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
134452		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Birth Weight	1	1q21	SHC1	153201397	153213464		Almind K 1999	10372739	Met300Val			SHC (Src homology 2 domain containing) transforming protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183001.3			Y Wang	6464	Hs.433795			The Journal of clinical endocrinology and metabolism. 1999 Jun;84(6):2241-4	Discovery of a Met300Val variant in Shc and studies of its relationship to birth weight and length, impaired insulin secretion, insulin resistance, and type 2 diabetes mellitus.		600560	5394	1	1999												
134447		polycystic ovarian syndrome; hyperinsulinemia	METABOLIC	MET		17	17p13-p12	SHBG	7472098	7477395		Zhao, J.  et al. 2005	16331562				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2	Chinese		CDC GDPinfo	6462	Hs.632235			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):644-7	[Study on the (TAAAA)n repeat polymorphism in sex hormone-binding globulin gene and the SHBG serum levels in putative association with the glucose metabelie status of Chinese patients suffering from polycystic ovarian syndrome in Shandong province.]		182205	13732	2	2005	 This study reveals that the repeat number, alleles, genotypes and their distributions in Chinese women are very different from these in foreigners. Some special genotypes and low serum SHBG levels may be associated with PCOS and its glucose metabolic status; some special genotypes may influence Chinese serum SHBG and need more studies, but both SHBG gene polymorphism genotype and serum SHBG are not good indicators to find out the PCOS individual at high risk.											
134448		sex steroid hormone-binding globulin	UNKNOWN	UNK		17	17p13-p12	SHBG	7472098	7477395		Haiman, C. A.  et al. 2005	15634719				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDPinfo	6462	Hs.632235			The Journal of clinical endocrinology and metabolism. 2005 Apr;90(4):2198-204	Common genetic variation in the sex steroid hormone-binding globulin (SHBG) gene and circulating shbg levels among postmenopausal women:the Multiethnic Cohort.		182205	19443	2	2005	In summary, these results suggest that genetic variation at the SHBG locus may contribute to modest differences in SHBG levels among healthy postmenopausal women, and that much larger studies will be needed to better comprehend the effects of common variations at this locus in predicting circulating SHBG levels.	Cohort 372 African-American, Native Hawaiian, Japanese, Latina, and white healthy postmenopausal women from the Multiethnic Cohort Study 										
134449		testosterone; androgen; phytoestrogen	METABOLIC	MET		17	17p13-p12	SHBG	7472098	7477395		Low, Y. L.  et al. 2005	16251630				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDPinfo	6462	Hs.632235			The Journal of nutrition. 2005 Nov;135(11):2680-6	Polymorphisms in the CYP19 Gene May Affect the Positive Correlations between Serum and Urine Phytoestrogen Metabolites and Plasma Androgen Concentrations in Men.		182205	23418	2	2005	We conclude that  enterolactone and equol are positively associated with plasma androgen concentrations, and interactions with CYP19 gene may be involved.											
134444		sex hormones	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism|Obesity	17	17p13-p12	SHBG	7472098	7477395		Cousin, P.  et al. 2004	14764814	TAAAA repeat and D327N			Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDPinfo	6462	Hs.632235			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):917-24	Influence of SHBG gene pentanucleotide TAAAA repeat and D327N polymorphism on serum sex hormone-binding globulin concentration in hirsute women.		182205	13729	2	2004	In summary, although BMI and PCOS status have a major influence on circulating SHBG levels in hirsute women, the present results support the notion that polymorphism(s) within the coding sequence and, potentially, in the regulatory sequence of the SHBG gene are associated with circulating SHBG levels and may represent part of the genetic background of sex steroid hormone activity in humans.	Cohort 245 subjects Cohort 303 women referred with hirsutism 										
134445	Y	menarche	REPRODUCTION	REP		17	17p13-p12	SHBG	7472098	7477395		Xita, N.  et al. 2005	15879463				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDPinfo	6462	Hs.632235			Molecular human reproduction. 2005 Jun;11(6):459-62	Association of SHBG gene polymorphism with menarche		182205	13730	2	2005	These findings provide evidence for a genetic contribution of SHBG gene to the age of menarche.	Cohort 130 healthy normal-weight adolescent females from a closed community North-Western Greece 										
134446	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13-p12	SHBG	7472098	7477395		Cui, Y.  et al. 2005	15894658	(Asp327Asn)			Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2		China	CDC GDPinfo	6462	Hs.632235			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1096-101	Association of breast cancer risk with a common functional polymorphism (Asp327Asn) in the sex hormone-binding globulin gene.		182205	13731	2	2005	This study suggests that the Asn allele in the SHBG gene may be related to a reduced risk of breast cancer among postmenopausal women by increasing their blood SHBG levels.	Case:1,106 population-based breast cancer cases:Shanghai, China;Control:1,180:controls										
134441		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q21	SH2D2A	155042658	155053226		Dai, K. Z.  et al. 2001	11528519				SH2 domain protein 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003975.2			CDC GDPinfo	9047	Hs.103527			Genes and immunity. 2001 Aug;2(5):263-8	The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis.		604514	19441	2	2001	Since the SH2D2A protein modulates T cell activation, this may be a mechanism for how short SH2D2A alleles confer susceptibility to develop MS.	146 Scandinavian families with at least two affected sibs ;Control:277 healthy controls;Case:313 multiple sclerosis patients:Norway										
134442	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism|Obesity	17	17p13-p12	SHBG	7472098	7477395		Cousin P 2004	14764814	D327N in SHBG gene exon 8 that delays human SHBG half-life and a pentanucleotide repeat polymorphism [PNRP (TAAAA)(n)] in the SHBG gene 5' UTR			Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			KGB	6462	Hs.632235	hirsute women		The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):917-24	Influence of SHBG gene pentanucleotide TAAAA repeat and D327N polymorphism on serum sex hormone-binding globulin concentration in hirsute women.		182205	5393	1	2004	In summary, although BMI and PCOS status have a major influence on circulating SHBG levels in hirsute women, the present results support the notion that polymorphism(s) within the coding sequence and, potentially, in the regulatory sequence of the SHBG gene are associated with circulating SHBG levels and may represent part of the genetic background of sex steroid hormone activity in humans.	Cohort 245 subjects Cohort 303 women referred with hirsutism										
134443	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Obesity	17	17p13-p12	SHBG	7472098	7477395		Xita, N.  et al. 2003	14671199				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDPinfo	6462	Hs.632235			The Journal of clinical endocrinology and metabolism. 2003 Dec;88(12):5976-80	Association of the (TAAAA)n repeat polymorphism in the sex hormone-binding globulin (SHBG) gene with polycystic ovary syndrome and relation to SHBG serum levels.		182205	13728	2	2003	The SHBG gene may act as a susceptibility gene for PCOS and may provide the genetic link for the developmental origin hypothesis for PCOS that was recently proposed on the basis of experimental observation in prenatally androgenized sheep and primates.	Case:185 women with polycystic ovary syndrome;Control:324 normal controls										
134438		immune deficiency	IMMUNE	IMM	Lymphoproliferative Disorders|Common Variable Immunodeficiency	X	Xq25-q26	SH2D1A	123307830	123334686		Eastwood, D.  et al. 2004	15320910				SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002351.1			CDC GDPinfo	4068	Hs.349094			Clinical and experimental immunology. 2004 Sep;137(3):584-8	Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.		300490	19440	2	2004	These results demonstrate that SAP defects are rarely observed in CVID patients. We suggest that routine screening of SAP may only be necessary in patients with other suggestive clinical features.	Cohort 60 male common variable immunodeficiency disease and and hypogammaglobulinaemic patients 										
134439	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q21	SH2D2A	155042658	155053226	0.03	Dai KZ 2001	11528519	(GA(13)-GA(33))	SH2D2A protein modulates T cell activation	5'promoter	SH2 domain protein 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003975.2	Norwegian		KGB	9047	Hs.103527			Genes and immunity. 2001 Aug;2(5):263-8	The T cell regulator gene SH2D2A contributes to the genetic susceptibility of multiple sclerosis		604514	6611	1	2001	Since the SH2D2A protein modulates T cell activation, this may be a mechanism for how short SH2D2A alleles confer susceptibility to develop MS.	146 Scandinavian families with at least two affected sibs ;Control:277 healthy controls;Case:313 multiple sclerosis patients:Norway										
134440	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1q21	SH2D2A	155042658	155053226		Smerdel, A.  et al. 2004	15129233				SH2 domain protein 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003975.2			CDC GDPinfo	9047	Hs.103527			Genes and immunity. 2004 Jun;5(4):310-2	Genetic association between juvenile rheumatoid arthritis and polymorphism in the SH2D2A gene.		604514	13727	2	2004	Our data indicate that the 'short' alleles of the SH2D2A promoter could contribute to the genetic susceptibility to JRA.	Case:210 juvenile rheumatoid arthritis cases:Norway;Control:558 healthy unrelated controls										
134435	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Hyperinsulinism|Genetic Predisposition to Disease	6	6q23	SGK	134532080	134680889		von Wowern, F.  et al. 2005	16221215				Serum/glucocorticoid regulated kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005627.2			CDC GDPinfo	6446	Hs.510078			Kidney international. 2005 Nov;68(5):2164-72	Genetic variance of SGK-1 is associated with blood pressure, blood pressure change over time and strength of the insulin-diastolic blood pressure relationship.		602958	19438	2	2005	 Our data suggest that SGK-1 risk carriers are at increased risk of hypertension and are more sensitive to the blood pressure elevating effects associated with hyperinsulinemia.											
134436		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6q23	SGK	134532080	134680889		Iwai, N.  et al. 2004	15167446				Serum/glucocorticoid regulated kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005627.2	Japanese	Japan	CDC GDPinfo	6446	Hs.510078			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		602958	28525	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
134437	Y	X-linked lymphoproliferative disease	IMMUNE	IMM	Epstein-Barr Virus Infections|Infectious Mononucleosis|Lymphoma|Lymphoproliferative Disorders|Genetic Predisposition to Disease	X	Xq25-q26	SH2D1A	123307830	123334686		Sumazaki, R.  et al. 2001	11493483				SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002351.1	Japanese	Japan	CDC GDPinfo	4068	Hs.349094			Blood. 2001 Aug;98(4):1268-70	SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses.		300490	19439	2	2001	Thus, genetic analysis of the SH2D1A gene is particularly useful in the diagnosis of sporadic cases and carriers of XLP	Cohort 40 males presenting with severe EBV-associated illnesses 	Epstein-Barr virus									
134432		dystonia	NEUROLOGICAL	NEUR		13	13q12	SGCG	22653090	22797304		Todorova, A.  et al. 2002	14960875				Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000231.1	Gypsy, Roma		CDC GDPinfo	6445	Hs.37167			Community genetics. 2002 ;5(4):217-21	Screening for C283Y gamma-Sarcoglycan Mutation in a High-Risk Group of Bulgarian Gypsies: Evidence fora Geographical Localization and a Non-Random Distribution among Gypsy Subgroups		608896	19435	2	2002	We found that the C283Y was not randomly distributed among the Gypsy subgroups. The disease seemed to be limited to the Xoroxane Gypsy group and geographically localized in eastern Bulgaria.	Cohort 300 unrelated individuals of reproductive age belonging to a Xoroxan Gypsy group Bulgaria 										
134433		dystonia	NEUROLOGICAL	NEUR	Muscular Dystrophies, Limb-Girdle	13	13q12	SGCG	22653090	22797304		Georgieva, B.  et al. 2004	15479193				Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000231.1	Gypsy, Roma	Bulgaria	CDC GDPinfo	6445	Hs.37167			Clinical genetics. 2004 Nov;66(5):467-72	C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence studyand carrier screening in a high-risk community.		608896	19436	2	2004	Our results show that the geographic distribution of this founder mutation and the disease are not geographically restricted only among Gypsies from North-Eastern Bulgaria. We stress upon the regions with detected high carrier and/or disease frequency and upon the results from the performed carrier screening on volunteers in one of these regions. The ongoing carrier-screening programs in isolated Gypsy groups would be of a great benefit for the genetic prophylaxis of the disease. Such regions should be with priority in the Bulgarian healthcare system for performing a carrier-screening program.	Cohort individuals from the general Roma population from the whole Bulgarian territory Bulfaria 										
134434	N	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Hypertension|Disease Progression	6	6q23	SGK	134532080	134680889		Trochen, N.  et al. 2004	15304560				Serum/glucocorticoid regulated kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005627.2	Caucasian		CDC GDPinfo	6446	Hs.510078			Nephrology, dialysis, transplantation. 2004 Oct;19(10):2499-504	Low prevalence of nonconservative mutations of serum and glucocorticoid-regulated kinase (SGK1) gene in hypertensive and renal patients.		602958	19437	2	2004	 Based on statistical analysis homozygosity for nonconservative mutations in the coding region of the SGK1 gene is estimated at < 1/300 000 when a white Caucasian population is considered, arguing against an important role of mutations of this coding region in hypertension and hypertension-associated progression of renal disease.	Control:280:controls;Case:311 end-stage renal disease patients										
134428	N	Tourette syndrome; obsessive compulsive disorder	PSYCH	PSY	Tourette Syndrome|Obsessive-Compulsive Disorder	7	7q21-q22	SGCE	94052477	94123414		de Carvalho Aguiar, P.  et al. 2004	15368614				Sarcoglycan, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003919.1			CDC GDPinfo	8910	Hs.371199			Movement disorders. 2004 Oct;19(10):1237-8	Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.		604149	19432	2	2004	No correlation was found by either method.	Case patients with Tourette syndrome and obsessive compulsive disorder;Control:controls										
134429	N	dystonia, primary	NEUROLOGICAL	NEUR	Dystonia|Myoclonus	7	7q21-q22	SGCE	94052477	94123414		Grundmann, K.  et al. 2004	15390016				Sarcoglycan, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003919.1			CDC GDPinfo	8910	Hs.371199			Movement disorders. 2004 Nov;19(11):1294-7	Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.		604149	19433	2	2004	Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.	Cohort 296/2 patients with a clinical phenotype of primary dystonia (n=296) and in 2 patients with a clinical phenotype of myoclonus-dystonia 										
134430		dystonia	NEUROLOGICAL	NEUR	Dystonic Disorders|Myoclonus	7	7q21-q22	SGCE	94052477	94123414		Valente, E. M.  et al. 2005	15728306				Sarcoglycan, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003919.1			CDC GDPinfo	8910	Hs.371199			Neurology. 2005 Feb;64(4):737-9	The epsilon-sarcoglycan gene in myoclonic syndromes.		604149	19434	2	2005	We found mutations (four of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.	Cohort 58 individuals with a range of myoclonic/dystonic syndromes 										
134431		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	7	7q21-q22	SGCE	94052477	94123414		Shang, H.  et al. 2005	15679701				Sarcoglycan, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003919.1			CDC GDPinfo	8910	Hs.371199			European journal of neurology. 2005 Feb;12(2):131-8	Clinical and molecular genetic evaluation of patients with primary dystonia		604149	23417	2	2005	Our study supports the notion that primary dystonia is a genetically heterogeneous disease.	Cohort 40 patients with primary dystonia 										
134425		surfactant protein-D	UNKNOWN	UNK		10	10q22.2-q23.1	SFTPD	81687475	81698841		Heidinger, K.  et al. 2005	15700120				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDPinfo	6441	Hs.253495			Immunogenetics. 2005 Apr;57(2-Jan):7-Jan	Polymorphisms in the human surfactant protein-D (SFTPD) gene: strong evidence that serum levels ofsurfactant protein-D (SP-D) are genetically influenced.		178635	13726	2	2005	The discovery of a frequent negative variant of the SFTPD gene provides a basis for genetic analysis of the function of SP-D in the resistance against pulmonary infections and inflammatory disorders in humans.	Cohort 32 randomly selected blood donors 										
134426		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Selman, M.  et al. 2003	13680361				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDPinfo	6441	Hs.253495			Human genetics. 2003 Nov;113(6):542-50	Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis		178635	27213	2	2003	These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.	Control:194 healthy controls:Cohort:84 nonsmoking and smoking idiopathic pulmonary fibrosis patients	smoking (tobacco)									
134427		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Rova, M.  et al. 2004	15102713				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDPinfo	6441	Hs.253495			Human molecular genetics. 2004 Jun;13(11):1095-104	Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia		178635	27214	2	2004	We propose that two separate SP-B gene polymorphisms have a phenotypic significance via	Case preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks with bronchopulmonary dysplasia;Control preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks without bronchopulmonary dysplasia										
134422	Y	respiratory syncytial virus infection	OTHER	OTH	Respiratory Tract Infections|Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Lahti M et al. 2002	12032263				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			KGB	6441	Hs.253495			Pediatric research. 2002 Jun;51(6):696-9	Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection.		178635	5391	1	2002	To our knowledge, the present report provides the first evidence of a specific gene associated with susceptibility to severe RSV infection.	Case:84 infants hospitalized for the treatment of RSV:bronchiolitis;Control:93 healthy controls matched with the cases on the basis of sex, hospital district, date of birth (+/-2 wk) and gestational age at birth (+/-2 wk)										
134423	Y	Concentration of Surfactant Protein D	NORMALVARIATION	NV	Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Leth-Larsen R 2005	15661913	Met/Met11 Thr/Thr11		coding sequence	Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4	Danish		KGB	6441	Hs.253495			Journal of immunology (Baltimore, Md :  1950). 2005 Feb;174(3):1532-8	A Common Polymorphism in the SFTPD Gene Influences Assembly, Function, and Concentration of Surfactant Protein D.		178635	5392	1	2005		Case:206										
134424		respiratory syncytial virus	OTHER	OTH	Respiratory Tract Infections|Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Lahti, M.  et al. 2002	12032263				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDPinfo	6441	Hs.253495			Pediatric research. 2002 Jun;51(6):696-9	Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection.		178635	13725	2	2002	To our knowledge, the present report provides the first evidence of a specific gene associated with susceptibility to severe RSV infection.	Case:84 infants hospitalized for the treatment of RSV:bronchiolitis;Control:93 healthy controls matched with the cases on the basis of sex, hospital district, date of birth (+/-2 wk) and gestational age at birth (+/-2 wk)										
134419	N	pulmonary fibrosis	CARDIOVASCULAR	CARD	Lung Diseases, Interstitial	8	8p21	SFTPC	22072178	22077936		Lawson, W. E.  et al. 2004	15516475				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			CDC GDPinfo	6440	Hs.1074			Thorax. 2004 Nov;59(11):977-80	Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF.		178620	19431	2	2004	 Mutations in SFTPC are identified infrequently in this patient population. These findings indicate that SFTPC mutations do not contribute to the pathogenesis of IPF in the majority of sporadic cases.	Control:104 normal controls;Case:89/46 patients diagnosed with usual interstitial pneumonitis (n=89) and patients with non-specific interstitial pneumonitis (n=46)										
134420		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	8	8p21	SFTPC	22072178	22077936		Selman, M.  et al. 2003	13680361				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			CDC GDPinfo	6440	Hs.1074			Human genetics. 2003 Nov;113(6):542-50	Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis		178620	26563	2	2003	These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.	Control:194 healthy controls:Cohort:84 nonsmoking and smoking idiopathic pulmonary fibrosis patients	smoking (tobacco)									
134421		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	8	8p21	SFTPC	22072178	22077936		Rova, M.  et al. 2004	15102713				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			CDC GDPinfo	6440	Hs.1074			Human molecular genetics. 2004 Jun;13(11):1095-104	Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia		178620	26564	2	2004	We propose that two separate SP-B gene polymorphisms have a phenotypic significance via	Case preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks with bronchopulmonary dysplasia;Control preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks without bronchopulmonary dysplasia										
134416		fibrosing lung disease	OTHER	OTH	Lung Diseases, Interstitial|Pulmonary Fibrosis|Pulmonary Alveolar Proteinosis	8	8p21	SFTPC	22072178	22077936		Tredano M 2004	15039969				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			KGB	6440	Hs.1074			American journal of medical genetics Part A. 2004 Apr;126(1):18-26	Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.		178620	5390	1	2004	Most remarkably, these observations extend the phenotypic spectrum related to SFTPC mutation from interstitial lung disease to PAP. Notably, the reported mutations do not appear to be dominant negatives.	Cohort 34 sporadic or familal cases with unexplained repiratory distress in which surfactant protein B (SP-B) deficiency related to SFTPB mutation had been ruled out										
134417	Y	bronchopulmonary dysplasia; respiratory distress syndrome, neonatal	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Respiratory Distress Syndrome, Newborn	8	8p21	SFTPC	22072178	22077936		Lahti, M.  et al. 2004	14735158				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2	Finnish	Finland	CDC GDPinfo	6440	Hs.1074			European journal of human genetics. 2004 Apr;12(4):312-20	Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease.		178620	19429	2	2004	According to the present results, the SP-C polymorphisms were associated with RDS and with very premature birth. The strength of allelic associations differed according to the gender of the premature infants.	Control:158 DNA samples from full-term infants;Case:245 premature infants:Cohort:472 individuals from the Finnish population										
134418		lung disease	OTHER	OTH	Lung Diseases, Interstitial|Pulmonary Fibrosis|Pulmonary Alveolar Proteinosis	8	8p21	SFTPC	22072178	22077936		Tredano, M.  et al. 2004	15039969				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			CDC GDPinfo	6440	Hs.1074			American journal of medical genetics Part A. 2004 Apr;126(1):18-26	Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.		178620	19430	2	2004	Most remarkably, these observations extend the phenotypic spectrum related to SFTPC mutation from interstitial lung disease to PAP. Notably, the reported mutations do not appear to be dominant negatives.	Cohort 34 sporadic or familal cases with unexplained repiratory distress in which surfactant protein B (SP-B) deficiency related to SFTPB mutation had been ruled out 										
134413		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Selman, M.  et al. 2003	13680361				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Human genetics. 2003 Nov;113(6):542-50	Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis		178640	25527	2	2003	These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.	Control:194 healthy controls:Cohort:84 nonsmoking and smoking idiopathic pulmonary fibrosis patients	smoking (tobacco)									
134414		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Rova, M.  et al. 2004	15102713				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Human molecular genetics. 2004 Jun;13(11):1095-104	Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia		178640	25528	2	2004	We propose that two separate SP-B gene polymorphisms have a phenotypic significance via	Case preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks with bronchopulmonary dysplasia;Control preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks without bronchopulmonary dysplasia										
134415		Interstitial lung disease	OTHER	OTH	Lung Diseases, Interstitial	8	8p21	SFTPC	22072178	22077936	???	Nogee LM 2001	11893657	460 +1G > A			Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2	34 infants with chronic lung diseases of unknown etiology		KGB	6440	Hs.1074			Chest. 2002 Mar;121(3 Suppl):20S-21S			178620	5389	1	2001												
134410		blood transfusion	CARDIOVASCULAR	CARD	Critical Illness	2	2p12-p11.2	SFTPB	85737950	85748885		Gong, M. N.  et al. 2003	14569193				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Epidemiology (Cambridge, Mass). 2003 Nov;14(6):744-7	Genotyping patients with recent blood transfusions.		178640	23415	2	2003	 We conclude that microchimerism from allogeneic blood transfusion is unlikely to have major effects on the genotype results of common polymorphisms in large molecular epidemiology studies conducted in the critical care setting if DNA is collected within a day after transfusions.	Cohort 145 ICU patients from the Massachusetts General Hospital Boston, MA, USA 										
134411		respiratory distress syndrome	UNKNOWN	UNK	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Haataja, R.  et al. 2000	11063734				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2		Finland	CDC GDPinfo	6439	Hs.512690			Human molecular genetics. 2000 Nov;9(18):2751-60	Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.		178640	23416	2	2000	We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)).	Case not described in abstract										
134412		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Hersh, C. P.  et al. 2005	15817713				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			American journal of respiratory cell and molecular biology. 2005 Jul;33(1):71-8	Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.		178640	25526	2	2005	Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.	Case chronic obstructive pulmonary disease cases;Control:controls										
134407	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Hu, R.  et al. 2004	15315329				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2	Chinese		CDC GDPinfo	6439	Hs.512690			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(3):216-8, 238	Surfactant protein B 1580 polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Han population.		178640	13724	2	2004	It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population; The polymorphism of SP-B-18A/C locus maybe varied with race.	Control control smokers;Case Chinese Hanchronic obstructive pulmonary disease:smokers										
134408	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Seifart, C.  et al. 2002	12107845				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2		Germany	CDC GDPinfo	6439	Hs.512690			British journal of cancer. 2002 Jul;87(2):212-7	Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.		178640	19426	2	2002	These results indicate an association of the surfactant protein B intron 4 variants and/or its flanking loci with mechanisms that may enhance lung cancer susceptibility, especially to squamous cell carcinoma of the lung.	Case:117 patients with lung cancer (40 patients with small cell lung cancer, 77 patients with non small cell lung cancer);Control:117/123 matched controls (n=117) and healthy individuals:(n=123)										
134409		respiratory distress syndrome	UNKNOWN	UNK	Respiratory Insufficiency	2	2p12-p11.2	SFTPB	85737950	85748885		Hamvas, A.  et al. 2005	16211553			intron	Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Human mutation. 2005 Nov;26(5):494-5	Genetic variant characterization in intron 4 of the surfactant protein B gene.		178640	19428	2	2005												
134404		respiratory distress syndrome, neonatal	UNKNOWN	UNK	Respiratory Distress Syndrome, Newborn|Diseases in Twins	2	2p12-p11.2	SFTPB	85737950	85748885		Marttila, R.  et al. 2003	12483294				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Human genetics. 2003 Jan;112(1):18-23	Surfactant protein B polymorphism and respiratory distress syndrome in premature twins.		178640	13721	2	2003	The threonine allele was associated with the risk of RDS, particularly in the first-born twin infants. The concordance difference between MZ and DZ twin pairs underestimates the genetic impact on the risk of RDS. The traditional twin concordance study is insufficient to evaluate genetic predisposition to RDS or other diseases that are confounded by the birth order or multiple pregnancy in itself.	Cohort 100 twins pairs with established RDS in at least one twin 										
134405		acute respiratory distress syndrome	UNKNOWN	UNK	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Gong, M. N.  et al. 2004	14718442				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			Chest. 2004 Jan;125(1):203-11	Polymorphism in the Surfactant Protein-B Gene, Gender, and the Risk of Direct Pulmonary Injury and ARDS		178640	13722	2	2004	 The variant polymorphism of the SP-B gene is associated with ARDS and with direct pulmonary injury in women, but not in men. Further study is needed to confirm the association between the variant SP-B gene, and gender, ARDS, and direct pulmonary injury.	Cohort 189 patients meeting study criteria for a defined risk factor for ARDS 										
134406	Y	sepsis; pneumonia; acute respiratory distress syndrome	INFECTION	INF	Community-Acquired Infections|Shock, Septic|Pneumonia|Respiratory Distress Syndrome, Adult|Respiratory Insufficiency|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Quasney, M. W.  et al. 2004	15190959	(+ 1580)			Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2		Tennessee	CDC GDPinfo	6439	Hs.512690			Critical care medicine. 2004 May;32(5):1115-9	Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia.		178640	13723	2	2004	 Carriage of the C allele at the SP-B + 1580 site is associated with ARDS, septic shock, and the need for mechanical ventilation in adults with community-acquired pneumonia.	Cohort 402 adults > or = 18 yrs of age with community-acquired pneumonia; 158 were white, 243 were African American, and one was Asian 										
134401		ARDS	OTHER	OTH	Respiratory Distress Syndrome, Newborn	2	2p12-p11.2	SFTPB	85737950	85748885		Lin Z 2000	11076040	C1580T. C allele (Thr131Ile)			Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2	52 severe ARDS	Germany	KGB	6439	Hs.512690			Clinical genetics. 2000 Sep;58(3):181-91			178640	5387	1	2000												
134402		respiratory distress syndrome	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Diseases in Twins	2	2p12-p11.2	SFTPB	85737950	85748885		Marttila R 2003	12947025				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			KGB	6439	Hs.512690			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1216-22	Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins.		178640	5388	1	2003												
134403		bronchopulmonary dysplasia; respiratory distress syndrome, neonatal	UNKNOWN	UNK	Respiratory Distress Syndrome, Newborn	2	2p12-p11.2	SFTPB	85737950	85748885		Makri, V.  et al. 2002	12424586				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDPinfo	6439	Hs.512690			European journal of pediatrics. 2002 Nov;161(11):604-8	Polymorphisms of surfactant protein B encoding gene: modifiers of the course of neonatalrespiratory distress syndrome?		178640	13720	2	2002	 we suggest that polymorphisms in intron 4 of the surfactant protein B gene independently modify the course of neonatal respiratory distress syndrome.	Case:140 preterm neonates;Control:58 healthy term neonates										
134396		pulmonary edema	CARDIOVASCULAR	CARD	Pulmonary Edema|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Saxena, S.  et al. 2005	16162765				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			Chest. 2005 Sep;128(3):1611-9	Association of polymorphisms in pulmonary surfactant protein A1 and A2 genes with high-altitude pulmonary edema.		178642	23409	2	2005	 The polymorphisms in SP-A1 (C1101T, T3192C, and T3234C) and SP-A2 (A3265C) might be one of the genetic factors contributing to susceptibility to HAPE.											
134397		otitis media	OTHER	OTH	Otitis Media|Genetic Predisposition to Disease|Recurrence	10	10q22-q23	SFTPA2	80985663	80990156		Ramet, M.  et al. 2001	11174628				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			The Journal of pediatrics. 2001 Feb;138(2):266-8	Surfactant protein-A gene locus associated with recurrent otitis media.		178642	23410	2	2001	We report that the frequency of specific surfactant protein-A haplotypes and genotypes differs between children with recurrent otitis media compared with a control population.	Case children with recurrent otitis media;Control:cont										
134399		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Selman, M.  et al. 2003	13680361				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			Human genetics. 2003 Nov;113(6):542-50	Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis		178642	23412	2	2003	These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.	Control:194 healthy controls:Cohort:84 nonsmoking and smoking idiopathic pulmonary fibrosis patients	smoking (tobacco)									
134393		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Weber, B.  et al. 2000	11105614				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1		Germany	CDC GDPinfo	6436	Hs.535295			The Turkish journal of pediatrics. 2000 Jul-Sep;42(3):181-5	Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants		178642	23406	2	2000	In addition to previously established risk factors for BPD, 6A6 polymorphism for SP-A1 gene is an independent co-factor. We believe treatment of neonatal RDS should also include stratification according to genetic risk factors.	Case Caucasian preterm infants below 32 weeks of gestation with BPD;Control matched for the degree of immaturity and the year of birth										
134394	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Madan, T.  et al. 2002	12476938				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1	Indian	India	CDC GDPinfo	6436	Hs.535295			Clinical chemistry and laboratory medicine. 2002 Oct;40(10):1002-8	Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.		178642	23407	2	2002	The results indicated that these SNPs in the collagen region of SP-A2 may be one of the contributing factors to the genetic predisposition to pulmonary tuberculosis.	Case patients with pulmonary tuberculosis;Control:controls										
134395	Y	bronchopulmonary aspergillosis	UNKNOWN	UNK	Aspergillosis, Allergic Bronchopulmonary|Eosinophilia	10	10q22-q23	SFTPA2	80985663	80990156		Saxena, S.  et al. 2003	12743564				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			The Journal of allergy and clinical immunology. 2003 May;111(5):1001-7	Association of polymorphisms in the collagen region of SP-A2 with increased levels of total IgE antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis.		178642	23408	2	2003	 The results indicated that SP-A2 G1649C and SP-A2 A1660G, polymorphisms in the collagen region of SP-A2, might be one of the contributing factors to genetic predisposition and severity of clinical markers of ABPA.	Case patients with allergic bronchopulmonary:aspergillosis;Control age-matched, unrelated controls										
134389	Y	Type II hereditary angio-oedema	OTHER	OTH	Angioneurotic Edema	11	11q12-q13.1	SERPING1	57121602	57138902		Siddique Z et al. 1992	1459574				serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)				KGB	710	Hs.384598			Human heredity. 1992 ;42(5):298-301	Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.		606860	1022	1	1992												
134390	Y	dementia	PSYCH	PSY	Dementia	3	3q26.1	SERPINI1	168936204	169026048		Davis RL et al. 2002	12103288				Serpin peptidase inhibitor, clade I (neuroserpin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005025.2			KGB	5274	Hs.478153			Lancet. 2002 Jun;359(9325):2242-7	Association between conformational mutations in neuroserpin and onset and severity of dementia.		602445	4988	1	2002	The findings provide evidence that inclusion-body formation is in itself a sufficient cause of neurodegeneration, and that the onset and severity of the disease is associated with the rate and magnitude of neuronal protein aggregation.											
134391	Y	5' CpG island hypermethylation	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	1	1p36.11	SFN	27062219	27063534		Suzuki H et al. 2000	10969776				Stratifin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006142.3			KGB	2810	Hs.523718			Cancer research. 2000 Aug;60(16):4353-7	Inactivation of the 14-3-3 sigma gene is associated with 5' CpG island hypermethylation in human cancers.		607149	2903	1	2000	Our findings suggest that 14-3-3sigma is inactivated by aberrant methylation of the 5' region in various human cancers and that it might play an important role in the development of undifferentiated gastric cancers.											
134386		microangiopathy, diabetic	OTHER	OTH	Diabetic Angiopathies	17	17p13.1	SERPINF1	1612008	1627618		Yamagishi, S.  et al. 2002	12837042				Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002615.4			CDC GDPinfo	5176	Hs.532768			International journal of clinical pharmacology research. 2002 ;22(4-Mar):67-71	Pigment epithelium-derived factor Met72Thr polymorphism in patients with diabetic microangiopathy.		172860	13714	2	2002	These observations suggest that these genetic variants might not be involved in the mechanism of diabetic microangiopathy in patients with diabetes.	Cohort 143 patients with diabetes 										
134387	Y	bleeding tendency	HEMATOLOGICAL	HEM	Postpartum Hemorrhage|Hemorrhagic Disorders|Breast Diseases|Hematoma	17	17p13	SERPINF2	1592879	1605309		Lind B et al. 1999	10583218				Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2				KGB	5345	Hs.159509			British journal of haematology. 1999 Nov;107(2):317-22	A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency.		602445	5007	1	1999												
134388	Y	enhanced fibrinolytic potential	OTHER	OTH	Hemorrhagic Disorders|Disease Models, Animal|Hemorrhage|	17	17p13	SKALP	1593069	1605309		Lijnen HR et al. 1999	10090937				serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC031592			KGB	5345	5345			Blood. 1999 Apr;93(7):2274-81	Alpha2-antiplasmin gene deficiency in mice is associated with enhanced fibrinolytic potential without overt bleeding.			5008	1	1999												
134383		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Adams, G. T.  et al. 2003	12871600				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		173360	28509	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
134384		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	7	7q21.3-q22	SERPINE1	100557104	100568431		Navarro-Lopez, F.   2002	11975906				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		173360	28583	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
134385		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	7	7q21.3-q22	SERPINE1	100557104	100568431		Zee, R. Y.  et al. 2002	12082592				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		173360	28669	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
134381		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Warpeha, K. M.  et al. 2003	12724690				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		173360	28363	2	2003	Review article											
134382		atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3-q22	SERPINE1	100557104	100568431		Ortlepp, J. R.  et al. 2002	12446192				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		173360	28398	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
134378		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Hefler, L.  et al. 2004	14706682				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		173360	28192	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
134379		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	7	7q21.3-q22	SERPINE1	100557104	100568431			16369102				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		173360	28193	2	2006			diet family history stress									
134380		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		French, J. K.  et al. 2003	12514663				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		173360	28316	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
134375	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Volzke, H.  et al. 2004	12899665				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		173360	27990	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
134376		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q21.3-q22	SERPINE1	100557104	100568431			16356191				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		173360	27991	2	2005												
134377	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431			12615788				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		173360	28108	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
134372		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q21.3-q22	SERPINE1	100557104	100568431		Tempfer, C. B.  et al. 2004	15120696				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		173360	27833	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
134373		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Rudack, C.  et al. 2004	15109703				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		173360	27834	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
134370		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Xenophontos, S. L.  et al. 2002	12518110				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Greek	Cyprus	CDC GDPinfo	5054	Hs.414795			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		173360	27613	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
134371		menopause	REPRODUCTION	REP	Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Tempfer, C. B.  et al. 2005	15879922				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		173360	27614	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
134368	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Arterial Occlusive Diseases|Thrombosis|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Yeh, P. S.  et al. 2004	15351855				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Taiwan	CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2004 Sep;92(3):583-9	Prognosis of young ischemic stroke in Taiwan:impact of prothrombotic genetic polymorphisms		173360	27212	2	2004	Our data indicate that the prothrombotic genetic polymorphisms do not have a significant influence on the prognosis in young ischemic stroke due to arterial occlusion or undetermined causes in Taiwan.	Cohort 231 patients younger than 50 years (mean age 44.6 years, range 25 to 49 years) with acute ischemic stroke due to large artery atherosclerosis (n=90), small artery occlusion (n=114) or undetermined cause (n=27) Taiwan 										
134369	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		De Maat, M. P.  et al. 2004	15333035			5'promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes	1799889	173360	27612	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
134364		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	7	7q21.3-q22	SERPINE1	100557104	100568431		Freeman, B. D.  et al. 2002	12411588				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		173360	27208	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
134365		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	7	7q21.3-q22	SERPINE1	100557104	100568431		Eriksson, P.  et al. 2005	16082623				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The British journal of surgery. 2005 Nov;92(11):1372-6	Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.		173360	27209	2	2005	 There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect.											
134361		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases	7	7q21.3-q22	SERPINE1	100557104	100568431		Fox, C. S.  et al. 2004	14963283				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Massachusetts	CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of Association Between Polymorphisms in the Hemostatic Factor Pathway Genes and Carotid Intimal Medial Thickness. The Framingham Heart Study		173360	27205	2	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort 										
134362		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431			16353042				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Kardiologiia. 2005 ;45(12):17-24	[Associations of Hemostasis Factors Genes With Early Development of Ischemic Heart Disease and Manifestation of Myocardial Infarction in Young Age.]		173360	27206	2	2005	 Thus we obtained data on the presence of independent association between IHD risk and manifestation of MI in young age with genotype TT of polymorphic marker C(-426)T of F5 gene as well as with traditional risk factors of IHD.											
134363		cholesterol, HDL; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Whiting, B. M.  et al. 2005	16086925				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			American heart journal. 2005 Aug;150(2):243-50	Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.		173360	27207	2	2005	 Five SNPs predicted differences in risk-related lipids but not angiographic CAD. These discrepancies suggest that genetic determinants of CAD are complex and intermediate phenotypes are poor surrogates. These findings have important implications for future directions in genetic research.											
134358		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Krause, M.  et al. 2005	15886801				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2005 May;93(5):867-71	Lipoprotein (a) and other prothrombotic risk factors in Caucasian women with unexplained recurrent miscarriage. Results of a multicentre case-control study.		173360	26560	2	2005	Upon univariate analysis the heterozygous FV mutation, Lp(a) > 30 mg/dL, increased APA/ACA and BMI > 25 kg/m(2) in combination with a prothrombotic risk factor were found to be significantly associated with uRM. In multivariate	Control:133 age-matched healthy controls;Case:133 Caucasian women aged 17-40 years (median 29 years) suffering from unexplained recurrent miscarriage:1998 - 2003										
134359		pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Glueck, C. J.  et al. 2005	16154434				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Metabolism:  clinical and experimental. 2005 Oct;54(10):1345-9	The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity:etiologies for sporadic miscarriage.		173360	26561	2	2005												
134360		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Zak, I.  et al. 2005	16043164				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):110-8	Contemporaneous carrier-state of two or three "proatherosclerotic" variants of APOE, ICAM1, PPARA and PAI-1 genes differentiate CAD patients from healthy individuals.		173360	26562	2	2005	 In conclusion, contemporaneous carrier-state of two or three polymorphic variants within analyzed genes is associated with CAD.											
134355	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Varela, M. L.  et al. 2001	11738073				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2001 Dec;104(5):317-24	Major and potential prothrombotic genotypes in a cohort of patients with venous thromboembolism.		173360	26557	2	2001	We conclude that  FVL and the PT-20210A are risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms do not appear to be associated with VT in our country.	Case:192 consecutive unrelated patients referred for evaluation of thrombophilia because of VT;Control:200 healthy controls										
134356		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Thrombosis|Hypertension|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		D'Aniello, G.  et al. 2003	14508198				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of hypertension. 2003 Oct;21(10):1915-20	The search for thrombophilic gene mutations in women with gestational hypertension does not help in predicting poor pregnancy outcome.		173360	26558	2	2003	 Only Factor II:C activity levels, uterine arterial Doppler and a history of familial hypertension are useful in predicting poor pregnancy outcome in gestational hypertension.	Cohort 59 women with gestational hypertension were prospectively tested between 24 and 26 weeks of gestation 										
134352		stroke	CARDIOVASCULAR	CARD	Venous Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Patnaik, M.  et al. 2004	15096570				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The Journal of molecular diagnostics. 2004 May;6(2):137-44	Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay.		173360	26554	2	2004	The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods.	Cohort 1,448 tested genotypes 										
134353		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Mansilha, A.  et al. 2005	16061406				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of vascular and endovascular surgery. 2005 Nov;30(5):545-9	Genetic polymorphisms and risk of recurrent deep venous thrombosis in young people: prospectivecohort study.		173360	26555	2	2005	 In this study, the risk of recurrent deep venous thrombosis in young people was not related with the presence of FV G1691A, FII G20210A, MTHFR C677T or PAI-1 4G/5G polymorphisms.											
134354		antiphospholipid syndrome	IMMUNE	IMM	Thrombophilia|Antiphospholipid Syndrome	7	7q21.3-q22	SERPINE1	100557104	100568431		Forastiero, R.  et al. 2001	11454529				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Haematologica. 2001 Jul;86(7):735-41	The combination of thrombophilic genotypes is associated with definite antiphospholipid syndrome.		173360	26556	2	2001	 Present data indicate that testing for heritable thrombophilia would be important to identify aPL subjects with an increased risk of developing APS.	Case:105 consecutive unselected patients with antiphospholipid antibodies grouped as having antiphospholipid syndrome (n= 69) and not having antiphospholipid syndrome (n= 36);Control:200 healthy subjects										
134350	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Boekholdt, S. M.  et al. 2001	11748101				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Circulation. 2001 Dec;104(25):3063-8	Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review.		173360	26552	2	2001	 Associations between these genetic variations and myocardial infarction were weak or absent. In the absence of clinical implications, our results indicate that screening of patients with myocardial infarction for these genetic variations is not warranted.											
134351		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Meglic, L.  et al. 2003	14597244				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of obstetrics, gynecology, and reproductive biology. 2003 Dec;111(2):157-63	Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism.		173360	26553	2	2003	 Women with pregnancy-related venous thromboembolism have an increased prevalence of inheritable thrombophilic defects predisposing them to an increased risk of thrombosis.	Case:30 women with a history of objectively confirmed venous thromboembolism during pregnancy or the:puerperium;Control:56 women with normal pregnancies										
134347		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Yamada, Y.  et al. 2002	12477941				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The New England journal of medicine. 2002 Dec;347(24):1916-23	Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.		173360	25523	2	2002	 Determination of the genotypes of the connexin 37, plasminogen-activator inhibitor type 1, and stromelysin-1 genes may prove reliable in predicting the genetic risk of myocardial infarction and might thus contribute to the primary prevention of this condition.	Control:2242 unrelated Japanese controls (1306 men and 936:women);Case:2819 unrelated Japanese patients with myocardial infarction (2003 men and 816 women)										
134348		hypertension; lung cancer; abdominal aortic aneurysm	CANCER	CAN	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Lanfear, D. E.  et al. 2004	15234427				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	African American, European Americans	United States	CDC GDPinfo	5054	Hs.414795			Journal of the American College of Cardiology. 2004 Jul;44(1):165-7	Genotypes associated with myocardial infarction risk are more common in African Americans than in European Americans.		173360	25524	2	2004	 We found higher frequencies of disease-associated genotypes in AA than in EA. Our results also show that more AA than EA carry multiple risk-associated genotypes. Future studies need to assess whether such genetic profiles predict adverse outcomes in U.S. populations and contribute to racial disparities in CVD burden.	Control;Case:95/95 healthy African Americans (n=95) and 95 healthy European Americans (n=95)										
134344		cerebral infarct	OTHER	OTH	Cerebral Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Petrovic, D.  et al. 2003	12859287				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Slovenia	CDC GDPinfo	5054	Hs.414795			Acta neurologica Scandinavica. 2003 Aug;108(2):109-13	Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.		173360	25520	2	2003	 The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.	Control:115 control subjects;Case:96 Slovene patients who suffered atherothrombotic cerebral infarction										
134345		fibrinogen; factor VII; plasminogen activator inhibitor-1	METABOLIC	MET	Cerebral Infarction|Myocardial Ischemia	7	7q21.3-q22	SERPINE1	100557104	100568431		Ando, R.  et al. 2002	12141403				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical nephrology. 2002 Jul;58(1):25-32	Association of beta-fibrinogen and factor VII polymorphism with plasma fibrinogen and factor VII levels, and no association of PAI-1 polymorphism with plasma PAI-1 levels in hemodialysis patients.		173360	25521	2	2002	 In HD patients, beta-fibrinogen and factor VII polymorphisms affected plasma levels of fibrinogen and factor VII, respectively. Beta-fibrinogen polymorphism was not an independent but a possible risk factor for CI in HD patients. Further study will be needed to confirm the precise role of 5-fibrinogen polymorphisms in the pathogenesis of CI in HD patients.	Control:100:controls;Case:149 hemodialysis patients										
134346		longevity	AGING	AGE	Thrombosis|Inflammation	7	7q21.3-q22	SERPINE1	100557104	100568431		Reiner, A. P.  et al. 2005	15939070				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Atherosclerosis. 2005 Jul;181(1):175-83	Common promoter polymorphisms of inflammation and thrombosis genes and longevity in older adults: thecardiovascular health study.		173360	25522	2	2005												
134341		plasminogen activator inhibitor-1	METABOLIC	MET	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Prisco, D.  et al. 2000	11289708				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			International journal of clinical & laboratory research. 2000 ;30(4):179-85	Angiotensin converting enzyme DD genotype affects the changes of plasma plasminogen activator inhibitor-1 activity after primary percutaneous transluminal coronary angioplasty in acute myocardial infarction patients.		173360	25517	2	2000	these data suggest that renin-angiotensin system genes are involved in the regulation of the fibrinolytic response to balloon injury, possibly affecting angiotensin converting enzyme activity. This interaction between the renin-angiotensin system and hemostasis may be a mechanism by which ACE DD genotype affects the risk of restenosis after percutaneous transluminal angioplasty.	Cohort 29 consecutive acute myocardial infarction patients 										
134342		pregnancy loss, recurrent	REPRODUCTION	REP	Infertility, Female|Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Wolf, C. E.  et al. 2003	15170393				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Pathophysiology of haemostasis and thrombosis. 2003 May-Jun;33(3):134-7	Recurrent pregnancy loss and its relation to FV Leiden, FII G20210A and polymorphisms of plasminogen activator and plasminogen activator inhibitor.		173360	25518	2	2003	9/49 women with RPL showed coagulation disorders with heterozygous FV Leiden mutation (5), FXII (1), protein C (1) or protein S (2) deficiency. However, due to the small number of patients studied, no definite conclusion can be drawn.	Control:controls;Case:49/32 women with at least 2 unexplained early abortions (n=49) and women with infertility (n=32)										
134339		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Intracranial Embolism and Thrombosis|Arteriosclerosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Bang, C. O.  et al. 2001	11385207				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Cerebrovascular diseases (Basel, Switzerland). 2001 ;11(4):294-9	4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and insertion/deletion polymorphism of the tissue-type plasminogen activator gene in atherothrombotic stroke.		173360	23404	2	2001	 Our results suggest that the 4G/4G genotype of the PAI-1 gene is significantly associated with an increased risk of atherothrombotic stroke. This finding also supports that impaired fibrinolytic activity in atherothrombotic stroke is related to atherothrombosis per se, but not to hypertension, one of the most important risk factors of atherothrombotic stroke.	Control:100 consecutive subjects attending the hospital for multiphasic health check-ups, excluding those with hypertension, ischemic heart disease, transient ischemic attack, or prior stroke;Case:160 patients with atherothrombotic stroke (n = 60),:hypertension (n = 100)										
134340	Y	gastric ulcer	OTHER	OTH	Peptic Ulcer Hemorrhage|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Kim, H. S.  et al. 2002	12589088				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of Korean medical science. 2003 Feb;18(1):58-64	Tissue Plasminogen Activator and Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Gastric Ulcer Complicated with Bleeding		173360	23405	2	2002	Our data suggest that t-PA gene polymorphism is associated with duodenal ulcers, and that the PAI-1 gene may be a risk factor leading to recurrent bleeding after initial hemostasis.	Control:100:controls;Case:84 patients with peptic ulcers Jan 1998 - Apr 2000										
134337		osteonecrosis	METABOLIC	MET	Osteonecrosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Asano, T.  et al. 2004	14742985				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Japanese	Japan	CDC GDPinfo	5054	Hs.414795			Transplantation. 2004 Jan;77(2):220-5	Relationship between postrenal transplant osteonecrosis of the femoral head and gene polymorphisms related to the coagulation and fibrinolytic systems in Japanese subjects.		173360	23402	2	2004	 Genotypes of PAI-1 4G/5G and MTHFR C677T or plasma concentrations of PAI-1 Ag and tHcy had no effect on the incidence of ONFH in Japanese subjects, unlike the results of studies performed in white subjects. The effect of genetic background on the pathologic conditions that developed in patients with postrenal transplant ONFH may differ according to race.	Control:106 Japanese patients with postrenal transplant without osteonecrosis of the femoral head;Case:31 Japanese patients with postrenal transplant with osteonecrosis of the femoral head										
134338		pregnancy loss, recurrent	REPRODUCTION	REP		7	7q21.3-q22	SERPINE1	100557104	100568431		Guan, L.  et al. 2005	15952129				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):330-3	[Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion]		173360	23403	2	2005	 The above findings suggest that genetic polymorphisms of PAI-1 4G/5G and MTHFR C677T were associated with RESA. They may have synergetic impact and present gene dosage effect on the susceptibility to the development of early spontaneous abortion.											
134335		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q21.3-q22	SERPINE1	100557104	100568431		Pegoraro, R. J.  et al. 2003	12716314				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	South African	South Africa	CDC GDPinfo	5054	Hs.414795			Acta obstetricia et gynecologica Scandinavica. 2003 Apr;82(4):313-7	Plasminogen activator inhibitor type 1 (PAI1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in Black South Africans with pre-eclampsia.		173360	23400	2	2003	 Neither the 4G allele of the plasminogen activator inhibitor Type 1 nor the PlA2 allele of the platelet glycoprotein IIIa have any significant role as risk factors in the patho-etiology of pre-eclampsia in Black South Africans, although these genes cannot yet be excluded as contributory to this disorder. It is possible that the underlying causes of pre-eclampsia may vary between different ethnic populations.	Case:151 Black Zulu-speaking pre-eclamptics;Control:217 ethnically matched healthy normotensive pregnant women who had normal full-term gestations										
134336		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Pegoraro, R. J.  et al. 2005	16307159				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Indian		CDC GDPinfo	5054	Hs.414795			Cardiovascular journal of South Africa. 2005 Sep-Oct;16(5):266-70	Plasminogen activator inhibitor type 1 (PAI-1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in young Asian Indians with acute myocardial infarction.		173360	23401	2	2005	 In young Asian Indians who smoke, the PAI-1 4G allele is a mild risk factor for the development of MI. The PGIIIa PI A2 allele constitutes a significant risk for individuals who have a previous history of MI, as well as serving as an indicator for the severity of CHD.											
134331		pregnancy loss, recurrent; coagulation disorder	REPRODUCTION	REP	Abortion, Spontaneous|Abortion, Habitual	7	7q21.3-q22	SERPINE1	100557104	100568431		Dossenbach-Glaninger, A.  et al. 2003	12816904				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical chemistry. 2003 Jul;49(7):1081-6	Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and earlypregnancy loss.		173360	23396	2	2003	 Homozygosity for PAI-1 4G or FXIII 34Leu polymorphisms as well as compound carrier status is associated with early pregnancy loss.	Control:48 unrelated parous healthy controls without a history of pregnancy loss;Case:49 unrelated Caucasian women with a history of two consecutive or three to six nonconsecutive early pregnancy losses										
134332		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Jastrzebska, M.  et al. 2003	14592559				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Poland	CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2003 Jun;110(6-May):339-44	Relationships between fibrinogen, plasminogen activator inhibitor-1, and their gene polymorphisms in current smokers with essential hypertension.		173360	23397	2	2003	 Smoking potentiates the prothrombotic effect of allele A455 and PAI-1 4G/4G genotype in untreated essential hypertension, reflected by increased levels of haemostatic risk factors and accelerated progression of cardiovascular diseases.	Control:40 controls (including 8 smokers);Case:90 patients (including 30 smokers) with essential:hypertension	smoking (tobacco)									
134333		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Infante-Rivard, C.  et al. 2005	15824541				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Epidemiology (Cambridge, Mass). 2005 May;16(3):281-7	Thrombophilic polymorphisms and intrauterine growth restriction.		173360	23398	2	2005	 Overall, there seems to be little or no indication that thrombophilic genes, at least individually, have an effect on intrauterine growth restriction.	Control:472 controls (greater than the 10th percentile);Case:493 cases of intrauterine growth restriction (birthweight less than the 10th percentile for gestational age and sex)										
134328		kidney disease	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Reis, K.  et al. 2005	15659127				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical transplantation. 2005 Feb;19(1):4-Oct	Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction		173360	23393	2	2002	Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction.	Control:100/80 healthy subjects tested for AGT polymorphism (n=100, 54 males and 46 females; mean age 35.54+/-10.26 years) and healthy subjects tested for the PAI-1 polymorphism (n=80, 45 males and 35 females; mean age 36.54+/-12.41);Case:82 renal allograft recipients (47 males and 35 females; mean age 34.87+/-11.22 years)										
134329		kidney transplant	IMMUNE	IMM	Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Reis, K.  et al. 2005	15659127				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical transplantation. 2005 Feb;19(1):4-Oct	Angiotensinogen and plasminogen activator inhibitor-1 gene polymorphism in relation to chronic allograft dysfunction*		173360	23394	2	2005	Determination of AGT M235T and PAI-1 genotypes prior to transplantation may help identify patients who at risk for chronic renal transplant dysfunction.	Control:100/80 healthy subjects investigated for AGT polymorphism (n=100) and for the PAI-1 polymorphism (n=80);Case:82 renal allograft recipients										
134330		arterial disease, renal	CARDIOVASCULAR	CARD	Renal Artery Obstruction|Atherosclerosis|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Reis, K. A.  et al. 2005	16228848				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Cardiovascular and interventional radiology. 2006 Jan-Feb;29(1):59-63	Angiotensinogen and Plasminogen Activator Inhibitor-1 Gene Polymorphism in Relation to Renovascular Disease.		173360	23395	2	2005												
134325		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Jastrzebskal, M.  et al. 2004	15673060				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Nutrition, metabolism, and cardiovascular diseases. 2004 Oct;14(5):259-69	Effects of perindopril treatment on hemostatic function in patients with essential hypertension in relation to angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms.		173360	23390	2	2004	 Our results show that essential hypertension predisposes to the procoagulant state characterized by hyperfibrinogenemia and hypofibrinolysis. Perindopril reduced fibrinogen levels in ACE II homozygotes due to its more potent inhibitory action on the renin-angiotensin system in such patients. It improved fibrinolysis by increasing t-PA levels regardless of ACE and PAI-1 genotype.	Control:34 age and gender -matched controls;Case:43 males with essential hypertension (mean age 31.7 +/- 6.8 years)	perindopril									
134326		hypertension; dyslipidemia	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Hyperlipidemias	7	7q21.3-q22	SERPINE1	100557104	100568431		Jastrzebska, M.  et al. 2005	16130596				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Poland	CDC GDPinfo	5054	Hs.414795			Pol Arch Med Wewn. 2005 Jan;113(1):20-Jul	[Plasminogen activator inhibitor-1 (PAI-1) 4G/5G and angiotensin converting enzyme (ACE) I/D gene polymorphisms and fibrinolytic activity in patients with essential hypertension and dyslipidemia]		173360	23391	2	2005												
134327		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion	7	7q21.3-q22	SERPINE1	100557104	100568431		Gori, A. M.  et al. 2004	15213845				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2004 Jul;92(1):54-60	Impaired fibrinolysis in retinal vein occlusion: arole for genetic determinants of PAI-1 levels.		173360	23392	2	2004		Control:112 healthy subjects (52 males and 60 females; range 20-84 years; median age 57 years);Case:112 retinal vein occlusion patients (52 males and 60 females; range 18-83 years; median age 60 years)										
134322	Y	myocardial infarct; kidney disease	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Aucella, F.  et al. 2003	12748347				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Italy	CDC GDPinfo	5054	Hs.414795			Nephrology, dialysis, transplantation. 2003 Jun;18(6):1142-6	PAI-1 4G/5G and ACE I/D gene polymorphisms and the occurrence of myocardial infarction in patients on intermittent dialysis.		173360	23387	2	2003	 In end-stage renal disease, PAI-1 4G/5G gene polymorphism may have a significant role in the occurrence of fatal and non-fatal MI.	Control:1,307 control individuals;Case:461 all patients undergoing intermittent dialysis in an Italian district										
134323		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Buchholz, T.  et al. 2003	14585904				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Human reproduction (Oxford, England). 2003 Nov;18(11):2473-7	Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages.		173360	23388	2	2003	 Based on these results, we recommend the incorporation of these two polymorphisms into the spectrum of thrombophilic mutations which should be analysed in individuals with recurrent spontaneous miscarriages. Patients homozygous for both the ACE D and PAI-1 4G alleles may benefit from the application of low molecular weight heparin as early as possible in the pregnancy in order to prevent uteroplacental microthromboses.	Control:127 patients with uneventful term deliveries and no history of miscarriages;Case:184 patients with a history of two or more consecutive unexplained spontaneous miscarriages										
134319	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Viitanen, L.  et al. 2001	11427204				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Finland	CDC GDPinfo	5054	Hs.414795			Atherosclerosis. 2001 Jul;157(1):57-64	Association of angiotensin converting enzyme and plasminogen activator inhibitor-1 promoter gene polymorphisms with features of the insulin resistance syndrome in patients with premature coronary heart disease.		173360	23384	2	2001	In conclusion, the ACE and PAI-1 gene polymorphisms are not linked with early-onset CHD. However, the ACE gene polymorphism is associated with features of the insulin resistance syndrome.	Control:110 healthy controls;Case:118 families with premature and severe coronary heart:disease										
134321	N	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Globocnik-Petrovic, M.  et al. 2003	12660488				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Ophthalmologica. 2003 May-Jun;217(3):219-24	Insertion/deletion plasminogen activator inhibitor 1 and insertion/deletion angiotensin-converting enzyme gene polymorphisms in diabetic retinopathy in type 2 diabetes.		173360	23386	2	2003	Neither the 4G/5G PAI-1 gene polymorphism nor the I/D ACE gene polymorphism contributed to the genetic susceptibility to diabetic retinopathy, either non-proliferative, proliferative or severe proliferative diabetic retinopathy, i.e. visual acuity of 0.1 or less in the better eye, in a group of Caucasian subjects with type 2 diabetes.	Case:124 subjects with type 2 diabetes and diabetic:retinopathy;Control:80 idabetic subjects without retinopathy with diabetes of a duration of more than 10 years										
134316		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	7	7q21.3-q22	SERPINE1	100557104	100568431		Kim, C. H.  et al. 2005	15823189				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Korean	Korea	CDC GDPinfo	5054	Hs.414795			Respirology (Carlton, Vic). 2005 Mar;10(2):223-8	Alpha-antitrypsin genotypes in Korean patients with chronic obstructive pulmonary disease.		173360	19409	2	2005	 Alpha1-antitrypsin deficiency is unlikely to be an important cause of chronic obstructive pulmonary disease in the Korean population.	Case:114 chronic obstructive pulmonary disease patients:Korea;Control:196 healthy controls										
134317		plasminogen activator inhibitor-1 concentrations	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms|Body Weight	7	7q21.3-q22	SERPINE1	100557104	100568431		Verschuur, M.  et al. 2005	16039281			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Atherosclerosis. 2005 Aug;181(2):275-84	The plasminogen activator inhibitor-1 (PAI-1) promoter haplotype is related to PAI-1 plasma concentrations in lean individuals.		173360	19412	2	2005	 Our study suggests that the PAI-1 promoter haplotype and BMI affect PAI-1 concentrations and that BMI is a stronger determinant than PAI-1 promoter variation.		body mass									
134318		dengue disease	INFECTION	INF		7	7q21.3-q22	SERPINE1	100557104	100568431		Mairuhu, A. T.  et al. 2005	16274483				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis journal [electronic resource]. 2005 Nov;3:17	Increased PAI-1 plasma levels and risk of death from dengue: no association with the 4G/5G promoterpolymorphism.		173360	19417	2	2005	 These data suggest that the 4G/5G polymorphism has no significant influence on PAI-1 concentrations in dengue virus infected patients and is not associated with the risk of death from dengue. Other factors contributing to the variability of PAI-1 plasma concentrations in patients with dengue need to be explored.											
134313		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		McCarthy, J. J.  et al. 2004	15121769				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of medical genetics. 2004 May;41(5):334-41	Large scale association analysis for identification of genes underlying premature coronary heart disease: cumulative perspective from analysis of111 candidate genes.		173360	19403	2	2004	 despite known caveats of genetic association studies, they can be an effective means of hypothesis generation and complement classic linkage studies for understanding the genetic basis of coronary heart disease.	Case:352 white subjects with familial, premature coronary heart disease;Control:418 population based Caucasians										
134314		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q21.3-q22	SERPINE1	100557104	100568431		Roncal, C.  et al. 2004	15194475				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Cardiovascular research. 2004 Jul;63(1):176-85	Influence of the 4G/5G PAI-1 genotype on angiotensin II-stimulated human endothelial cells and in patients with hypertension.		173360	19404	2	2004	 The 4G/5G PAI-1 polymorphism determines the endothelial PAI-1 upregulation by Ang II and the inhibitory response to losartan. Analysis of PAI-1 genotypes may help identifying subgroups of hypertensives at higher cardiovascular risk.	Cohort cultured endothelial cells from apparently healthy subjects 										
134315	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3-q22	SERPINE1	100557104	100568431		Wang, X.  et al. 2004	15300646				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):400-2	[The application of DNA sequencing in studying haplotypes of PAI-1 gene in patients with coronary artery disease]		173360	19406	2	2004	 The DNA sequencing is objective and correct in determining haplotypes derived from two polymorphisms with distance less than about 400 bp apart and with one insertion/deletion polymorphism. And the haplotypes derived from -675 4G/5G and -844G/A polymorphisms are not associated with pathogenosis of CAD.	Control:145 control subjects;Case:93 coronary artery disease patients										
134310	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Juhan-Vague, I.  et al. 2003	14629464				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Europe	CDC GDPinfo	5054	Hs.414795			Journal of thrombosis and haemostasis. 2003 Nov;1(11):2322-9	The plasminogen activator inhibitor-1 -675 4G/5G genotype influences the risk of myocardial infarction associated with elevated plasma proinsulin and insulin concentrations in men from Europe: the HIFMECH Study		173360	19399	2	2003	 This study suggests that PAI-1 has a role in risk of MI in the presence of underlying insulin resistance. A significant interaction between insulin or proinsulin and the -675 4G/5G polymorphism was observed in risk for MI. The mechanisms for these interactions remain to be determined.	Case:598 men with myocardial infarction from the European case-control study, the HIFMECH study;Control:653 age-matched controls										
134311	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Buyru, N.  et al. 2003	14653443				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical and applied thrombosis/hemostasis. 2003 Oct;9(4):333-6	PCR-RFLP detection of PAI-2 variants in myocardial infarction.		173360	19400	2	2003	These data provide evidence that a polymorphism of the PAI-2 gene is associated with an increased risk of MI.	Control:20 control subjects;Case:45 patients with myocardial infarct										
134312	Y	plasminogen activator; fibrinolytic activities	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Sanders, T. A.  et al. 2004	15051600				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The American journal of clinical nutrition. 2004 Apr;79(4):577-81	Postprandial variations in fibrinolytic activity in middle-aged men are modulated by plasminogen activator inhibitor I 4G-675/5G genotype but not by the fat content of a meal		173360	19402	2	2004	 Fibrinolytic activity is not lower after meals rich in palmitate or oleate than after a low-fat meal.	Cohort 32 men Cohort 51 men 	diet									
134307	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Panahloo, A.  et al. 2003	12801613				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Atherosclerosis. 2003 Jun;168(2):297-304	Plasminogen activator inhibitor-1 (PAI-1) activity post myocardial infarction: the role of acute phasereactants, insulin-like molecules and promoter (4G/5G) polymorphism in the PAI-1 gene.		173360	19394	2	2003	We have found no evidence that subjects with the 4G/4G polymorphism have higher PAI-1 levels on admission or 6 months after AMI. In these patients, levels of PAI-1 are related to concentrations of proinsulin-like molecules and of proinflammatory cytokines.	Cohort 123 patients immediately following and at 6 months after acute myocardial infarction 										
134309	Y	cardiovascular disease; stroke; stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases	7	7q21.3-q22	SERPINE1	100557104	100568431		Hoekstra, T.  et al. 2003	14605330				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Netherlands	CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2822-8	4G/4G genotype of PAI-1 gene is associated with reduced risk of stroke in elderly.		173360	19398	2	2003	 Our results provide support for a protective effect of the 4G allele against stroke, which is notable given the direct relationship between stroke and PAI-1 activity. We hypothesize that a local increase in tissue PAI-1 associated with the 4G allele may stabilize plaques, thereby reducing the risk of cerebrovascular disease.	Cohort 637 Dutch elderly followed up for 7.8 years 										
134304		avascular osteonecrosis	UNKNOWN	UNK	Femur Head Necrosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Ferrari, P.  et al. 2002	12438962				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Transplantation. 2002 Oct;74(8):1147-52	Association of plasminogen activator inhibitor-1 genotype with avascular osteonecrosis in steroid-treated renal allograft recipients		173360	19391	2	2002	 Hypofibrinolysis conferred by the 4G/4G PAI-1 gene variant is a major predisposing factor for AVN in renal transplant patients. The risk is particularly high in obese subjects or patients with persistent hyperparathyroidism. A prospective intervention study of early anticoagulation after renal transplantation is needed to assess whether glucocorticoid-associated AVN can be prevented.	Cohort 228 glucocorticoid-treated renal transplant patients 										
134306		insulin	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus|Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Festa, A.  et al. 2003	12719278			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Circulation. 2003 May;107(19):2422-7	Promoter (4G/5G) plasminogen activator inhibitor-1 genotype and plasminogen activator inhibitor-1 levels in blacks, Hispanics, and non-Hispanic whites: the Insulin Resistance AtherosclerosisStudy.		173360	19393	2	2003	 We have shown ethnic differences in the PAI-1 4G/5G polymorphism along with corresponding differences in circulating PAI-1 levels. The association of the genotype with PAI-1 levels was seen consistently among all 3 ethnic groups and was unaffected by metabolic covariates, including insulin resistance.	Cohort 287/691/586 subjects in the Insulin Resistance Atherosclerosis Study with the 4G/4G genotype (n=287), heterozygote subjects (n=691), and carriers of the 5G/5G genotype (n=586) 										
134301		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		He, J. Q.  et al. 2002	12057695				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The Journal of heart and lung transplantation. 2002 Jun;21(6):629-36	Genetic variants of the hemostatic system and development of transplant coronary artery disease.		173360	19388	2	2002	 Genetic and metabolic factors contributed by both donor and recipient may interact at the level of the coronary vessel wall in the development of transplant-associated CAD, and this finding may provide additional support for the importance of local thrombotic response to endothelial injury in the pathogenesis of this disorder.	Cohort 53 cardiac transplant patients and their heart donors. 										
134302		stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Diabetes Mellitus, Type 2|Metabolic Syndrome X	7	7q21.3-q22	SERPINE1	100557104	100568431		Kain, K.  et al. 2002	12187010				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Asia, Western	CDC GDPinfo	5054	Hs.414795			Cerebrovascular diseases (Basel, Switzerland). 2002 ;14(2):77-83	Determinants of plasminogen activator inhibitor-1 in South asians with ischaemic stroke		173360	19389	2	2002	There was a significant association between PAI-1 promoter genotype and PAI-1 antigen levels in patients. Regression analysis with significant correlates in the model demonstrated age, gender and triglycerides in patients and fasting insulin and HDL cholesterol in reference subjects as independent predictors of PAI-1 antigen.	Case:101 South Asian ischemic stroke patients South Asia;Control:102 symptom-free reference subjects										
134303		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Balta, G.  et al. 2002	12353306				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Turkey	CDC GDPinfo	5054	Hs.414795			American journal of hematology. 2002 Oct;71(2):89-93	PAI-1 gene 4G/5G genotype: A risk factor forthrombosis in vessels of internal organs.		173360	19390	2	2002	To conclude, this study suggests that there may be an association between 4G/4G and 4G/5G genotypes and the thrombosis in vessels of internal organs especially in the portal veins.	Control:281 unrelated healthy controls;Case:357 patients with different types of thrombosis										
134298		plasminogen activator inhibitor-1	METABOLIC	MET	Thrombosis|Hypertension	7	7q21.3-q22	SERPINE1	100557104	100568431		Brown, N. J.  et al. 2001	11397722				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Arteriosclerosis, thrombosis, and vascular biology. 2001 Jun;21(6):1071-7	Interactive effect of PAI-1 4G/5G genotype and salt intake on PAI-1 antigen.		173360	19382	2	2001	This study identifies an important gene-by-environment interaction that may influence cardiovascular morbidity and the response to pharmacological therapies that interrupt the RAAS.	Cohort 76 subjects with essential hypertension assessed during low (10 mmol/d) and high (200 mmol/d) salt intake 	salt									
134299		cardiac disease	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Thromboembolism|Protein C Deficiency|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Nowak-Gottl, U.  et al. 2001	11457466				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Germany	CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2001 Jul;103(2):93-101	Interaction of fibrinolysis and prothrombotic risk factors in neonates, infants and children with and without thromboembolism and underlying cardiac disease. a prospective study.		173360	19384	2	2001	Data of this study indicate that neonates and infants with underlying cardiac disease and basically increased PAI-1 due to the 4G/4G variant of the PAI-1 promoter polymorphism along with elevated t-PA levels in combination with further prothrombotic risk factors are at high risk of developing early thromboembolism during cardiac catheterisation.	Cohort 125 children (neonate - 16 years) with underlying cardiac disease 										
134300		obesity	METABOLIC	MET	Obesity|Weight Loss	7	7q21.3-q22	SERPINE1	100557104	100568431		Estelles, A.  et al. 2001	11522017			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2001 Aug;86(2):647-52	Plasma PAI-1 levels in obese children--effect of weight loss and influence of PAI-1 promoter 4G/5G genotype.		173360	19385	2	2001	In conclusion, a decrease in BMI in obese children shows a favourable effect on the fibrinolytic system due to a decrease in PAI-1 levels. However, no influence of 4G/5G genotype on PAI-1 levels was observed.	Case:102 obese children;Control:105 controls of similar age and sex distribution										
134295	Y	thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Segui, R.  et al. 2000	11091191			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			British journal of haematology. 2000 Oct;111(1):122-8	PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects		173360	19378	2	2000	the PAI-1 promoter polymorphism was found to have an influence on PAI-1 levels in DVT patients and on the risk of venous thrombosis in subjects with other genetic thrombophilic defects.	Control:152 healthy subjects;Case:190 unrelated patients with DVT										
134296	N	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Nowak-Gottl, U.  et al. 2001	11168509			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	German	Germany	CDC GDPinfo	5054	Hs.414795			European journal of haematology. 2001 Jan;66(1):57-62	The plasminogen activator inhibitor (PAI)-1 promoter 4G/4G genotype is not associated with ischemic stroke in a population of German children. Childhood Stroke Study Group.		173360	19379	2	2001	 Data presented here suggest that the 4G/4G genotype is not a major risk factor in the aetiology of childhood ischemic stroke.	Case:198 Caucasian children with stroke;Control:951 children without stroke (same age, sex and ethnic:distribution)										
134297		osteonecrosis; thrombophilia; hypofibrinolysis	METABOLIC	MET	Femur Head Necrosis|Blood Coagulation Disorders|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Glueck, C. J.  et al. 2001	11347834				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical orthopaedics and related research. 2001 May;(386):19-33	Hypofibrinolysis, thrombophilia, osteonecrosis.		173360	19381	2	2001	If the association between coagulation disorders and osteonecrosis reflects cause and effect, as postulated, then anticoagulation with Enoxaparin should be a promising therapy for patients with osteonecrosis.	Control:235 healthy children and adults without osteonecrosis;Case:36 patients with osteonecrosis of the hip										
134292		polycystic ovarian syndrome	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Zhao, J. L.  et al. 2005	16202290	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua fu chan ke za zhi. 2005 Aug;40(8):528-31	[Correlation between 4G and 5G genetypes distribution of plasminogen activator inhibitor-1 gene polymorphism in its promoter region with polycystic ovarian syndrome]		173360	13709	2	2005	 PAI-1 gene polymorphism 4G genetype may be correlated with PCOS in Chinese women, especially in PCOS patients with non-obese PCOS and spontaneous miscarriage.											
134293		sepsis	INFECTION	INF		7	7q21.3-q22	SERPINE1	100557104	100568431			16321247	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue za zhi. 2005 Sep;85(34):2404-7	[Relationship between sepsis and 4G/5G polymorphism within the promoter region of plasminogen activator inhibitor-1 gene]		173360	13712	2	2005	 PAI-1 4G/5G polymorphism is associated with the susceptibility and outcome of severe sepsis, 4G/4G genotype and 4G allele may be genetic risk factors of severe sepsis.											
134294		thrombosis, deep vein	CARDIOVASCULAR	CARD		7	7q21.3-q22	SERPINE1	100557104	100568431		Chen, Y.  et al. 2005	16331557	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):624-7	[Association of 4G/5G polymorphism in PAI1 promoter with PAI1 level in deep vein thrombosis.]		173360	13713	2	2005	 There is a close relationship of the PAI1 4G/5G polymorphism to its plasma level in deep vein thrombosis in Chinese Han ethnic group, although lack of association between this genetic variation and risk of DVT suggest no major cause-effect pathogenic role of this polymorphism by itself.											
134289	Y	breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21.3-q22	SERPINE1	100557104	100568431		Castello, R.  et al. 2005	15907980	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2005	Plasminogen activator inhibitor-1 4G/5G polymorphism in breast cancer patients and its association with tissue PAI-1 levels and tumor severity.		173360	13701	2	2005	 Tissue PAI-1 antigen levels and tumor severity seem to be associated with the PAI-1 4G/5G polymorphism. Further studies with a larger number of patients are needed to clarify the influence of this polymorphism in breast cancer.	Case:104 breast carcinoma cases;Control:104 healthy age-matched control women										
134290		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Wiklund, P. G.  et al. 2005	16020771	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Sweden	CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2005 Aug;36(8):1661-5	Plasminogen activator inhibitor-1 4G/5G polymorphism and risk of stroke: replicatedfindings in two nested case-control studies based on independent cohorts.		173360	13705	2	2005	 Identical findings in 2 independent studies strongly suggest a true and clinically important association between PAI-1 4G/5G genotype and risk of future ischemic stroke. The observed modification of the genotype effect by triglycerides may be interpreted as a gene-environment interaction.		triglycerides									
134291		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Walch, K.  et al. 2005	16102886			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of obstetrics, gynecology, and reproductive biology. 2005 Nov;123(1):77-81	A polymorphism of the plasminogen activator inhibitor-1 gene promoter and the polycystic ovary syndrome.		173360	13707	2	2005	 The 5G/4G polymorphism of the PAI1 promoter is not associated with occurrence and phenotype of the PCOS.											
134286	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	7	7q21.3-q22	SERPINE1	100557104	100568431		Gupta, J.  et al. 2005	15820782				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Indian	India	CDC GDPinfo	5054	Hs.414795			Clinical biochemistry. 2005 May;38(5):489-91	Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease.		173360	13696	2	2005	 The PIM3 allele of the alpha1AT gene is found to have an association with the pathogenesis of COPD in the Indian population.	Control:controls;Case chronic obstructive pulmonary disease patients										
134287	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections	7	7q21.3-q22	SERPINE1	100557104	100568431		Geishofer, G.  et al. 2005	15843979	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of pediatrics. 2005 Aug;164(8):486-90	4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene in children with systemic meningococcaemia.		173360	13698	2	2005	 Our data show a correlation between the 4G/4G genotype in the plasminogen activator inhibitor-1 gene and poor outcome in children with meningococcal infection. In addition, 4G homozygous patients were prone to develop sepsis. We found no influence of the plasminogen activator inhibitor-1 polymorphism on the susceptibility to invasive meningococcal infection.	Control:controls;Case:347 previously heathy children with meningococcal infection collected from 95 pediatric hospitals Germany, Switzerland, Italy, UK and Austria:2000 - 2002										
134288	N	insulin; lipids; glucose	METABOLIC	MET	Insulin Resistance|Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Kinik, S. T.  et al. 2005	15853833	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish	Turkey	CDC GDPinfo	5054	Hs.414795			Clinical endocrinology. 2005 May;62(5):607-10	The effect of plasminogen activator inhibitor-1 gene 4G/5G polymorphism on glucose and lipid metabolisms in Turkish obese children.		173360	13699	2	2005	 Although the frequency of the 4G/4G genotype was higher in subjects in the current study than in subjects reported in the literature, in our study group we observed no influence of the PAI-1 4G/4G polymorphism on lipid and glucose metabolism.	Cohort 90 hildren with obesity (37 male, 53 female; mean age 11.1 +/- 3.4 years; range 5.8-17.6 years) Turkey 										
134283		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Testa, R.  et al. 2004	15575342	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Diabetes, nutrition & metabolism. 2004 Aug;17(4):217-21	Effect of 4G/5G PAI-1 polymorphism on the response of PAI-1 activity to vitamin E supplementation in Type 2 diabetic patients.		173360	13691	2	2004	The delayed decrease, found in patients with at least one 4G allele with respect to those with 5G/5G genotype, demonstrates that 4G/5G polymorphism mainly influences the rate of decrease of PAI-1 after supplementation with vitamin E in Type 2 diabetic subjects.	Cohort 93 type 2 diabetic subjects 	Vitamin E									
134284	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		van Goor, M. L.  et al. 2005	15630497	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2005 Jan;93(1):92-6	The plasminogen activator inhibitor (PAI-1) 4G/5G promoter polymorphism and PAI-1 levels in ischemic stroke. A case-control study.		173360	13692	2	2005	Neither the PAI-1 4G/5G polymorphism nor the PAI-1 antigen level is a strong risk factor for ischemic stroke.	Case:124 patients aged 18-75 years with first ischemic:stroke;Control:125 controls age -and sex-matched, without a history of stroke, and of the Caucasian race										
134285	Y	obesity	METABOLIC	MET	Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Bouchard, L.  et al. 2005	15772559				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Quebec	CDC GDPinfo	5054	Hs.414795			Menopause (New York, NY). 2005 Mar;12(2):136-43	Plasminogen-activator inhibitor-1 polymorphisms are associated with obesity and fat distribution in the Quebec Family Study: evidence of interactions withmenopause.		173360	13695	2	2005	 Taken together, these results suggest that the PAI1 gene is associated with obesity and may modulate the changes in adipose tissue distribution generally observed at menopause.	Cohort 666 subjects of the Quebec Family Study 										
134280	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Liu, S. Q.  et al. 2004	15321757	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese		CDC GDPinfo	5054	Hs.414795			Di yi jun yi da xue xue bao. 2004 Aug;24(8):904-7	[Relationship between plasminogen activator inhibitor-1 gene 4G/5G polymorphism and type 2 diabetic nephropathy in Chinese Han patients in Guangdong Province]		173360	13687	2	2004	 The PAI-1 4G/4G genotype is associated with increased risk for type 2 DN the Chinese Han population in Guangdong Province, and type 2 diabetic patients with 4G/4G PAI-1 genotype are more likely to develop DN than those with 5G/5G PAI-1 genotype.	26/70 normal individuals (n=26) and type 2 diabetic patients without nephropathy (n=70) ;Case:77 patients with type 2 diabetic nephropathy										
134281		brain hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	7	7q21.3-q22	SERPINE1	100557104	100568431		Yoneyama, T.  et al. 2004	15528457				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Japanese		CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2004 Dec;35(12):e376-8	Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.		173360	13689	2	2004	 AAT deficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans.	Case:195/189 Japanese (n=195) and Korean (n=189) ruptured intracranial aneurysm patients;Control:195/194 Japanese (n=195) and Korean (n=194) controls										
134282	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Coronary Disease|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Zietz, B.  et al. 2004	15554360	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Endocrine research. 2004 Aug;30(3):443-53	Allelic frequency of the PAI-1 4G/5G promoter polymorphism in patients with type 2 diabetes mellitus and lack of association with PAI-1 plasma levels.		173360	13690	2	2004	In patients with type 2 diabetes mellitus, the PAI-1 4G/5G promoter polymorphism does not predict PAI-1 plasma levels and is not associated with common metabolic parameters besides fibrinogen levels.	Control nondiabetic controls;Case:547 Caucasian patients with type 2 diabetes										
134277	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	7	7q21.3-q22	SERPINE1	100557104	100568431		Diamanti-Kandarakis, E.  et al. 2004	15191349	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			European journal of endocrinology. 2004 Jun;150(6):793-8	The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels.		173360	13684	2	2004	 1) The genotypic subtypes 4G/4G and 4G/5G, in PCOS, were present with a statistically higher frequency compared with controls. 2) PCOS women have higher levels of PAI-1 compared with the control group. 3) The presence of the 4G allele in PAI-1 promoter region of the gene further increases the PAI-1 levels.	Control:64:controls;Case:98 polycystic ovary syndrome patients										
134278		stroke	CARDIOVASCULAR	CARD		7	7q21.3-q22	SERPINE1	100557104	100568431		Ding, Z.  et al. 2004	15309528	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese		CDC GDPinfo	5054	Hs.414795			Annals of hematology. 2005 Mar;84(3):183-7	Distribution of PAI-1 promoter 4G/5G polymorphism in healthy Chinese and functional characterization using a luciferase reporter vector.		173360	13685	2	2004	The distribution of PAI-1 promoter 4G/5G polymorphism in Chinese is obviously different from that in Caucasians with the 4G allele more frequently found in Chinese. PAI-1 promoter 4G/5G polymorphism does not alter basic transcription activity and 4G promoter has increased response to IL-1.	Cohort 77 healthy Chinese 										
134279	Y	lipoprotein, LDL	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Kitamura, Y.  et al. 2004	15313160	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Japanese		CDC GDPinfo	5054	Hs.414795			Clinica chimica acta; international journal of clinical chemistry. 2004 Sep;347(2-Jan):209-16	Association of plasminogen activator inhibitor-1 4G/5G gene polymorphism with variations in the LDL particle size in healthy Japanese men.		173360	13686	2	2004	 Our findings suggest that the 4G/5G polymorphism of the PAI-1 gene might be associated with LDL particle size in healthy Japanese males.	Cohort 156 healthy Japanese male subjects 										
134275		vascular disease; subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Brain Ischemia|Intracranial Aneurysm|Subarachnoid Hemorrhage|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Vergouwen, M. D.  et al. 2004	15105509	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2004 Jun;35(6):1280-3	Plasminogen Activator Inhibitor-1 4G Allele in the 4G/5G Promoter Polymorphism Increases the Occurrence of Cerebral Ischemia After Aneurysmal Subarachnoid Hemorrhage		173360	13680	2	2004	 The 4G allele in the PAI-1 gene increases the risk for cerebral ischemia after aneurysmal subarachnoid hemorrhage (SAH) and probably also the risk for poor outcome. After early aneurysm occlusion, treatment aimed at enhancing fibrinolysis might be effective to prevent and treat cerebral ischemia in patients with aneurysmal SAH.	Cohort 126 patients with aneurysmal subarachnoid hemorrhage admitted to the Academic Medical Centre Amsterdam and University Medical Centre Utrecht the Netherlands 										
134276		glucose tolerance; lipids; fibrinogen; hematology indices	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Ruiz-Quezada, S.  et al. 2004	15183748			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Ann Genet. 2004 Apr-Jun;47(2):155-62	Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters		173360	13683	2	2004	A particular genotype and allelic frequency of this PAI-1 polymorphism was established in Mexico. The clinical parameters were not associated according to each genotype of PAI-1.	Cohort 110 healthy Mexicans west of Mexico 										
134272		plasminogen activator	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease|Fatigue	7	7q21.3-q22	SERPINE1	100557104	100568431		von Kanel, R.  et al. 2003	14699709	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Germany	CDC GDPinfo	5054	Hs.414795			Italian heart journal. 2003 Nov;4(11):791-6	Contribution of the type 1 plasminogen activator inhibitor 4G/5G gene polymorphism to impaired fibrinolysis in vital exhaustion		173360	13674	2	2003	 The findings suggest that the PAI-1 4G/5G gene polymorphism might affect the plasma PAI-1 levels related to exhaustion severity. With the 5G/5G polymorphism, exhausted subjects might have less fibrinolytic capacity than non-exhausted subjects.	Cohort 258 apparently healthy subjects of an airplane manufacturing plant Germany 										
134273	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	7	7q21.3-q22	SERPINE1	100557104	100568431		Guan, L.  et al. 2004	15079805	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):173-5	[Relationship between the 4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and the pathogenesis of pregnancy-induced hypertension syndrome]		173360	13677	2	2004	 These findings suggested that PAI-1 gene polymorphism may be a susceptible factor to the pathogenesis of PIHs and the 4G/4G genotype may be one of the major risk factors for PIHs in pregnant women.	Case:171 pregnancy induced hypertension syndrome patients;Control:193 normal pregnant women										
134274		coronary artery bypass graft	CARDIOVASCULAR	CARD	Acute-Phase Reaction	7	7q21.3-q22	SERPINE1	100557104	100568431		Burzotta, F.  et al. 2003	15087600	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of thrombosis and thrombolysis. 2003 Dec;16(3):149-54	4G/5G PAI-1 promoter polymorphism and acute-phase levels of PAI-1 following coronary bypass surgery:a prospective study.		173360	13678	2	2003	 Postoperative PAI-1 concentrations of patients undergoing elective coronary bypass surgery are higher in carriers of the 4G-allele than in 5G/5G homozygotes as a result of higher baseline values. Knowledge of 4G/5G status may be useful to predict acute-phase PAI-1 concentrations.	Cohort 111 consecutive patients undergoing elective coronary bypass surgery 										
134269	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Barcellona, D.  et al. 2003	14652637				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2003 Dec;90(6):1061-4	Allele 4G of gene PAI-1 associated with prothrombin mutation G20210A increases the risk for venous thrombosis.		173360	13671	2	2003	In conclusion, we believe that patients affected by VTE with concomitant presence of the G20210A prothrombin mutation could be tested for genotype 4G/4G to better define their thrombotic risk.	Case:402 venous thromboembolism patinets;Control:466 healthy controls										
134270		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Sartori, M. T.  et al. 2003	14653439	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical and applied thrombosis/hemostasis. 2003 Oct;9(4):299-307	The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia.		173360	13672	2	2003	In conclusion, PAI-1 4G/5G polymorphism may influence PAI-1 expression and thrombotic risk in patients with inherited thrombophilia.	Case:67 patients with idiopathic deep vein thrombosis;Control:98 normal subjects										
134271	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Haralambous, E.  et al. 2003	14668616	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian	Great Britain	CDC GDPinfo	5054	Hs.414795			Critical care medicine. 2003 Dec;31(12):2788-93	Role of functional plasminogen-activator-inhibitor-1 4G/5G promoter polymorphism in susceptibility, severity, and outcome of meningococcal disease in Caucasian children.		173360	13673	2	2003	 This study confirms that Caucasian pediatric patients carrying the functional PAI-1 4G/4G genotype are at an increased risk of developing vascular complications and dying from meningococcal disease.	Control:155 Caucasian controls;Case:510 pediatric meningococcal disease patients:UK										
134267	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Obstetric Labor, Premature|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Hakli, T.  et al. 2003	14642005				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Finnish	Finland	CDC GDPinfo	5054	Hs.414795			Genetic testing. 2003 ;7(3):265-8	Plasminogen activator inhibitor-1 polymorphism in women with pre-eclampsia.		173360	13669	2	2003	Overall, this genotype data on fertile women is almost identical to that in the general middle-aged Finnish population. The 4G/5G polymorphism of the PAI1 gene promoter is unlikely to be a major genetic predisposing factor as regards preeclampsia in subjects from eastern Finland. These results are not suggestive of an important contribution of the PAI1 genotype on preeclampsia across populations.	Cohort general middle-aged Finnish population sample Finland ;Control:115 healthy control pregnant women;Case:133 preeclamptic pregnant women										
134268	Y	myocardial infarct; cerebrovascular infart	CARDIOVASCULAR	CARD	Cerebral Infarction|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Zhan, M.  et al. 2003	14642142	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese	China	CDC GDPinfo	5054	Hs.414795			Chinese medical journal. 2003 Nov;116(11):1707-10	Plasminogen activator inhibitor-1 4G/5G gene polymorphism in patients with myocardial or cerebrovascular infarction in Tianjin, China.		173360	13670	2	2003	 The PAI-1 4G/5G gene polymorphism is associated with a higher risk of MI and CI in individuals in Tianjin, China. The deletion/insertion polymorphism is probably an important hereditary risk factor for heart diseases. Moreover, triglyceride and glucose levels of plasma have functional importance in regulating PAI-1 activity.	Case:56/54 myocardial infarction (n=56) patients and cereberovascular infarction (n=54) patients:Tianjin, China;Control:83 unrelated healthy controls										
134263	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q21.3-q22	SERPINE1	100557104	100568431		Fabbro, D.  et al. 2003	12867763				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Gynecologic and obstetric investigation. 2003 ;56(1):17-22	Association between plasminogen activator inhibitor 1 gene polymorphisms and preeclampsia.		173360	13662	2	2003	In conclusion, the hypofibrinolytic genotypes 4G/4G and A/A at positions -675 and -844 of the PAI-1 gene are associated with the occurrence of mild preeclampsia independently of thrombophilic mutations of the factor V, prothrombin, and MTHFR genes.	Cohort 52 women with preeclampsia ;Control:80 women with a normal pregnancy										
134264	N	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Crainich, P.  et al. 2003	12911596	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of thrombosis and haemostasis. 2003 Aug;1(8):1799-804	Lack of association of the plasminogen activator inhibitor-1 4G/5G promoter polymorphism with cardiovascular disease in the elderly.		173360	13663	2	2003	Our results suggest that the PAI-1 4G/5G promoter polymorphism is not associated CVD risk factors or incident CVD events in the elderly.	Case elderly participants of the Cardiovascular Healthy:Study;Control:controls										
134265	N	stroke, ischemic	METABOLIC	MET	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Chen, C. H.  et al. 2003	12960956	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Taiwan	CDC GDPinfo	5054	Hs.414795			The Journal of laboratory and clinical medicine. 2003 Aug;142(2):100-5	4G/5G promoter polymorphism of plasminogen activator inhibitor-1, lipid profiles, and ischemic stroke.		173360	13664	2	2003	Our findings suggest that PAI-1 4G/5G promoter polymorphism alone is not associated with ischemic stroke. However, this polymorphism influences lipid levels, and the underlying mechanism must be determined.	Case:100 patients with ischemic stroke;Control:150 age- and sex-matched control subjects										
134260		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Leander, K.  et al. 2003	12783120	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Sweden	CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2003 Jun;89(6):1064-71	PAI-1 level and the PAI-1 4G/5G polymorphism in relation to risk of non-fatal myocardial infarction: results from the Stockholm HeartEpidemiology Program (SHEEP).		173360	13657	2	2003	There were no clear indications of synergistic interaction effects involving the PAI-1 4G/5G polymorphism and the environmental exposures considered (cigarette smoking, physical inactivity, overweight, diabetes mellitus, hypercholesterolaemia, hypertension, high C-reactive protein and hypertriglyceridaemia).	Control:1051/505 men (n=1051) and women (n=505) who were randomly chosen as referents from a population registeR;Case:851/361 men (n=8510and women (N=361 ) with first-time MI	obesity physical activity smoking (tobacco)									
134261		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Invasiveness	7	7q21.3-q22	SERPINE1	100557104	100568431		Smolarz, B.  et al. 2003	12833173				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Acta biochimica Polonica. 2003 ;50(2):489-95	Plasminogen activator inhibitor 1 (PAI-1) 1334G/A genetic polymorphism in colorectal cancer.		173360	13659	2	2003	The results support the hypothesis that the 1334G/A polymorphism may be associated with the incidence of colorectal cancer.	Control:110 age matched healthy individuals;Case:92 subjects with colorectal cancer										
134258		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Sans, M.  et al. 2003	12694086	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Alimentary pharmacology & therapeutics. 2003 Apr;17(8):1039-47	The 4G/4G genotype of the 4G/5G polymorphism of the type-1 plasminogen activator inhibitor (PAI-1) gene is a determinant of penetrating behaviour in patients with Crohn's disease.		173360	13653	2	2003	 The 4G/4G genotype of the PAI-1 gene does not influence Crohn's disease susceptibility, but increases by five-fold the probability of penetrating behaviour. Most patients with the 4G/4G genotype have a non-penetrating phenotype at diagnosis, but develop a penetrating behaviour within 5 years. Genotyping the 4G/5G polymorphism may be useful for the identification of a sub-group of patients with aggressive Crohn's disease, who might benefit from specific therapy.	Case:157 patients with Crohn's disease;Control:350:controls										
134259	Y	pneumonia	INFECTION	INF	Lung Diseases, Interstitial	7	7q21.3-q22	SERPINE1	100557104	100568431		Kim, K. K.  et al. 2003	12765340			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Molecular medicine (Cambridge, Mass). 2003 Jan-Feb;9(2-Jan):52-6	A plasminogen activator inhibitor-1 promoter polymorphism and idiopathic interstitial pneumonia		173360	13656	2	2003	The results of this study support the conclusion that PAl-1 expression influences the development of nonspecific interstitial pneumonia in a similar manner to what occurs in animal models of pulmonary fibrosis. Patients with usual interstitial pneumonia did not show the same relationship with PAl-1 genotype.	Control a large control population;Case:62/26 patients with usual interstitial pneumonia (n=62) and with nonspecific interstitial pneumonia (n=26)										
134255	Y	kidney dysfunction	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Chow, K. M.  et al. 2002	12499900				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Transplantation. 2002 Dec;74(12):1791-4	Plasminogen activator inhibitor-1 polymorphism is associated with progressive renal dysfunction after acute rejection in renal transplant recipients.		173360	13647	2	2002	 PAI-1 4G/5G-promoter polymorphism modulates the risk of renal transplant outcomes after acute rejection(s). Recipients homozygous for PAI-1 4G allele have a higher risk of progressive renal damage after acute rejection episode(s). PAI-1 promoter polymorphisms are potentially important determinants of renal response to rejection.	Cohort 130 patients with 132 kidney grafts 										
134256		longevity	AGING	AGE	Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Barbieri, M.  et al. 2002	12508941				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of endocrinological investigation. 2002 ;25(10 Suppl):110-2	Insulin resistance, plasma PAI-1 levels and PAI-1 gene polymorphism in healthy centenarians.		173360	13648	2	2002	Our study confirms that healthy centenarians have higher levels of PAI-I Ag levels and demonstrate	Cohort 83/42 										
134257	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q21.3-q22	SERPINE1	100557104	100568431		Jeng, J. R.   2003	12670745			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese		CDC GDPinfo	5054	Hs.414795			American journal of hypertension. 2003 Apr;16(4):290-6	Association of PAI-1 gene promoter 4g/5g polymorphism with plasma PAI-1 activity in Chinese patients with and without hypertension.		173360	13652	2	2003	 The present study showed that the 4G/4G genotype was associated with elevated plasma PAI-1 activity in Chinese patients with and without hypertension. The contribution of the PAI-1 genotype seemed larger in women. In hypertensives carrying the 4G/4G genotype, higher TG was correlated with higher PAI-1, suggesting a possible contribution of gene-environmental interaction to their high risk for atherothrombotic disease.	Case:211 Chinese men without hypertension;Control:354 Chinese men without hypertion										
134252		plasminogen activator; plasminogen activator inhibitor-type 1	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Hoekstra, T.  et al. 2002	12428096				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2002 Nov;88(5):794-8	Diurnal variation in PAI-1 activity predominantly confined to the 4G-allele of the PAI-1 gene.		173360	13644	2	2002	Our findings raise the hypothesis that 5G-homozygotic persons may be relatively protected from diurnal variation in the occurrence of coronary events.	Cohort 598 elderly from the Arnhern Elderly Study 										
134253	N	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Hoekstra, T.  et al. 2002	12431476	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2002 Aug;107(4-Mar):115-9	The 4G/5G-polymorphism in the PAI-1 gene is not associated with markers of atherosclerosis in male smokers.		173360	13645	2	2002	In the present study, no association was observed between the 4G/5G-polymorphism and two established markers of atherosclerosis, I.e. ABI and IMT. The 4G-allele is generally associated with higher PAI-1 concentrations and therefore, one would expect an increased risk of therosclerosis if PAI-1 were causally involved. Our findings, however do not support this hypothesis	Cohort 208 male smokers 	family history smoking (tobacco)									
134254	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Loktionov, A.  et al. 2003	12490312				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		England	CDC GDPinfo	5054	Hs.414795			Cancer letters. 2003 Jan;189(2):189-96	Plasminogen activator inhibitor-1 gene polymorphism and colorectal cancer risk and prognosis.		173360	13646	2	2003	Our results suggest that PAI-1 genotype may be a useful prognostic marker for colorectal cancer, however further specifically designed studies are needed to assess its value in this respect.	Case:206 colorectal cancer patients;Control:355 healthy controls										
134249		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Gardemann, A.   2002	12362251			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2002 Oct;88(4):697-8	The Impact of the PAI-1 A((-844))G Promoter Polymorphism on the Risk and Extent of Coronary Heart Disease		173360	13641	2	2002	The present data indicate that the A(-844)G gene polymorphism is not an independent risk factor of CAD and MI. The impact of this gene variation might be restricted to the extent of coronary artery disease for certain individuals who are at high risk for this disease.	Case:2710 participants with coronary angiography;Control:534 healthy individuals										
134250	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Guan, L.  et al. 2002	12362314	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese		CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):393-6	[Association of plasminogen activator inhibitor-1 gene 4G/5G polymorphism and coronary heart disease in Chinese patients]		173360	13642	2	2002	 These results suggest that the PAI-1 4G/4G genotype is associated with an increased risk for CHD in Chinese patients. The subjects with the 4G/4G genotype had a higher prevalence of CHD, compared to those with the 5G/5G PAI-1 genotype.	Control:121 normal individuals;Case:126 cases with coronary heart disease										
134251	Y	circadian variability in plasma PAI-1	UNKNOWN	UNK	Cardiovascular Diseases|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Van Der Bom, J. G.  et al. 2002	12406875	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Netherlands	CDC GDPinfo	5054	Hs.414795			Blood. 2003 Mar;101(5):1841-4	The 4G5G polymorphism in the gene for PAI-1 and the circadian oscillation of plasma PAI-1.		173360	13643	2	2002	These findings suggest that the morning increase in PAI-1 antigen concentration is more pronounced among subjects homozygous for the 4G allele as compared to the morning increase among the other genotypes. Additionally, these findings show that homozygosity for the 4G allele is associated with increased PAI-1 levels only during the morning.	Cohort 263 subjects selected from the Rotterdam Study, a population-based cohort of 7983 men and women aged 55 years and over 										
134246	N	antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Yasuda, S.  et al. 2002	12064834				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			The Journal of rheumatology. 2002 Jun;29(6):1192-7	Gene polymorphisms of tissue plasminogen activator and plasminogen activator inhibitor-1 in patients with antiphospholipid antibodies.		173360	13636	2	2002	 Polymorphisms of the tPA or PAI-1 genes probably do not significantly influence the risk of anerial thrombosis, venous thrombosis, or pregnancy morbidity in patients with aPL.	Cohort 77/82 Japanese (n=77) and British (n=82) patients with antiphospholipid antibodies 										
134247		plasminogen activator inhibitor-1; tissue-type plasminogen activator	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Moore, J.  et al. 2002	12123488				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical genetics. 2002 Jul;62(1):53-9	The relationship between plasma t-PA and PAI-1 levels is dependent on epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms.		173360	13637	2	2002	This study supports the idea that interactions between the fibrinolytic and renin-angiotensin systems play an important role in the genetic architecture of plasma t-PA and PAI-1.	Cohort 50/117 unrelated African Americans (n=50) and unrelated Caucasians (n=117) 										
134248	Y	periodontitis	IMMUNE	IMM	Periodontitis	7	7q21.3-q22	SERPINE1	100557104	100568431		Izakovicova Holla, L.  et al. 2002	12140748			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Genes and immunity. 2002 Aug;3(5):292-4	Plasminogen-activator-inhibitor-1 promoter polymorphism as a risk factor for adult periodontitis in non-smokers.		173360	13639	2	2002	An association was detected between the deletion (4G) allele (and 4G/4G genotype) and periodontitis (P = 0.0022, P(corr) < 0.01; P = 0.014, P(corr) < 0.05). A stronger association occurred in non-smokers (P = 0.00021, P(corr) < 0.01; P = 0.0024, P(corr) < 0.05) where the presence of the PAI-1 gene 4G allele appears to be one of the risk factors for periodontitis.	Cohort 304 Caucasian subjects 	smoking (tobacco)									
134243	Y	myocardial infarction; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Hyperhomocysteinemia|Hypercholesterolemia	7	7q21.3-q22	SERPINE1	100557104	100568431		Hindorff, L. A.  et al. 2002	12006921	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Washington	CDC GDPinfo	5054	Hs.414795			Journal of cardiovascular risk. 2002 Apr;9(2):131-7	The association of PAI-1 promoter 4G/5G insertion/deletion polymorphism with myocardial infarction and stroke in young women.		173360	13633	2	2002	 These data suggest a decreased risk of MI among young women carrying the 4G allele of the PAI-1 4G/5G polymorphism. Although this result contrasts with those of previous studies of older adults and young men, it may highlight the influence of genetic factors on the development of MI within the context of particular hormonal or environmental influences.	Control:385 age-matched controls;Case:78/106 myocardial infarction cases (n=78) and stroke cases:(n=106)										
134244	Y	aneurysm, abdominal aortic	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	7	7q21.3-q22	SERPINE1	100557104	100568431		Jones, K.  et al. 2002	12027469	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Great Britain	CDC GDPinfo	5054	Hs.414795			European journal of vascular and endovascular surgery. 2002 May;23(5):421-5	The influence of 4G/5G polymorphism in the plasminogen activator inhibitor-1 gene promoter on the incidence, growth and operative risk of abdominal aortic aneurysm.		173360	13634	2	2002	 polymorphism of the PAI-1 gene promoter does not influence the development of AAA, although AAA growth is faster for patients of 5G5G genotype. However, this genotype (5G5G), which is associated with enhanced fibrinolysis, appears protective following open aneurysm repair. This effect of PAI-1 genotype on survival following surgery is likely to have widespread significance in vascular and general surgery.	Cohort 460 patients with abdominal aortic aneurysm 										
134240	N	obstructive sleep apnea syndrome	OTHER	OTH	Sleep Apnea Syndromes	7	7q21.3-q22	SERPINE1	100557104	100568431		Barcelo, A.  et al. 2002	11908512				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Respiratory medicine. 2002 Mar;96(3):193-6	Plasminogen activator inhibitor-I (PAI-I) polymorphisms in patients with obstructive sleep apnoea.		173360	13630	2	2002	These results show that the distribution of the 4G/5G polymorphism in the promoter region ofthe PAI-1 gene in patients with OSAS is similar to that observed in healthy subjects. This observation suggests that the PAI-1 polymorphism has no relationship with the increased risk of cardiovascular diseases seen in patients with OSAS.	Control:70 healthy male, non-smoker volunteers of similar age, without personal or familial history of cardiovascular disease;Case:78 male patients with severe OSAS (56 +/- 2 apnoeas per hour)										
134242	N	peritoneal permeability	OTHER	OTH	Peritonitis|Sclerosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Szeto, C. C.  et al. 2002	11979351	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			American journal of kidney diseases. 2002 May;39(5):1061-7	Plasminogen activator inhibitor-1 4G/5G genetic polymorphism does not affect peritoneal transport characteristic.		173360	13632	2	2002	We conclude that  PAI-1 promotor polymorphism is not associated with peritoneal transport characteristics in stable peritoneal dialysis patients, longitudinal change in peritoneal transport, or development of peritoneal failure after an episode of severe peritonitis.	Cohort 100/48 new continuous ambulatory peritoneal dialysis (CAPD) patients (n=100) and prevalent CAPD patients who had a baseline PET performed 2 years before; a standard PET was repeated on enrollment (n=48) 										
134237	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Fu, L.  et al. 2001	11780311			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Chinese medical journal. 2001 Mar;114(3):266-9	Relationship between gene polymorphism of the PAI-1 promoter and myocardial infarction.		173360	13627	2	2001	 This study indicates that the 4G/5G gene polymorphism of PAI-1 is associated with myocardial infarction, that 4G/4G type is probably an important hereditary risk factor, and that glucose has functional importance in regulating PAI-1 activity.	Case:87 myocardial infarction patients;Control:92 unrelated healthy controls										
134238		obesity	METABOLIC	MET	Insulin Resistance|Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Sartori, M. T.  et al. 2001	11816701	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2001 Nov;86(5):1161-9	Role of the 4G/5G polymorphism of PaI-1 gene promoter on PaI-1 levels in obese patients:influence of fat distribution and insulin-resistance.		173360	13628	2	2001	In conclusion, the 4G/5G polymorphism may influence PAI-1 expression in obesity, with a crucial role in central but not peripheral adiposity. Since subjects with central obesity are at high risk for cardiovascular disease, the effects of the 4G/5G polymorphism on PAI-1 concentration may further enhance this risk.	Control:79 lean normal subjects;Case:93 obese patients										
134239	N	insulin resistance; plasminogen activator inhibitor-1	METABOLIC	MET	Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Rizzo, M. R.  et al. 2002	11849662				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Atherosclerosis. 2002 Feb;160(2):385-90	Elevated plasma activator inhibitor 1 is not related to insulin resistance and to gene polymorphism in healthy centenarians.		173360	13629	2	2002	In conclusion, our data demonstrates that in healthy centenarians, plasma PAI-1 were not associated with the degree of insulin resistance as in aged subjects. Frequency of PAI-1 genotype does not provide an explanation for such differences between aged subjects and centenarians.	Case:42 healthy centenarians;Control:83 aged subjects										
134234	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q21.3-q22	SERPINE1	100557104	100568431		Persico, A. M.  et al. 2001	11525425	4G/5G		promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		United States|Italy|Netherlands	CDC GDPinfo	5054	Hs.414795			Psychiatric genetics. 2001 Jun;11(2):99-103	No association between the 4g/5G polymorphism of the plasminogen activator inhibitor-1 gene promoter and autistic disorder.		173360	13624	2	2001	We thus found no evidence that this polymorphism, or putative functionally relevant gene variants in linkage disequilibrium with it, confer vulnerability to autistic disorder.	167 trios with autistic probands Italy and United States 										
134235	Y	lumen loss, late	OTHER	OTH	Coronary Disease|Coronary Restenosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Ortleppg, J. R.  et al. 2001	11558839				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical cardiology. 2001 Sep;24(9):585-91	The 4G/5G promotor polymorphism of the plasminogen activator inhibitor-1 gene and late lumen loss after coronary stent placement in smoking and nonsmoking patients.		173360	13625	2	2001	 The promotor polymorphism of the PAI-1 gene has a significant influence on instent restenosis after coronary stent implantation. The 5G/5G genotype predisposes nonsmoking gene carriers to less late lumen loss, whereas in smoking gene carriers this genotype is associated with the greatest late lumen loss. This might be explained by an altered expression pattern of hemostatic parameters.	Cohort 300 consecutive patients (133 nonsmoking; 167 smoking) with elective coronary stent placement and 6-month angiographic follow-up 	smoking (tobacco)									
134231	N	stroke	CARDIOVASCULAR	CARD	Cerebral Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Akar, N.  et al. 2001	11332466				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish		CDC GDPinfo	5054	Hs.414795			Journal of child neurology. 2001 Apr;16(4):294-5	Plasminogen activator inhibitor-1 4G/5G polymorphism in Turkish children with cerebral infarct and effect on factor V 1691 A mutation.		173360	13620	2	2001	There was no statistically significant difference in patient and control groups for the distribution of plasminogen activator inhibitor-1 4G/5G polymorphism (P = .75) (allele frequency 4G	Control:113 healthy unrelated individuals without family histories of thrombosis;Case:43 patients with cerebral infarct below the age of 18:years										
134232	Y	coronary artery disease; sudden cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Tachycardia, Ventricular|Ventricular Fibrillation|Coronary Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Anvari, A.  et al. 2001	11457467				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis research. 2001 Jul;103(2):103-7	PAI-I 4G/5G polymorphism and sudden cardiac death in patients with coronary artery disease.		173360	13622	2	2001	These results suggest that the PAI-I 4G/4G genotype is associated with SCD in patients suffering from CAD.	Control:113 patients with CAD but no history of SCD;Case:97 patients with CAD and a history of SCD treated with an implantable cardioverter defibrillator (ICD) (defibrillator group)										
134233	N	longevity	AGING	AGE		7	7q21.3-q22	SERPINE1	100557104	100568431		Lottermoser, K.  et al. 2001	11485022				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of molecular medicine (Berlin, Germany). 2001 Jun;79(6-May):289-93	The plasminogen activator inhibitor 1 4G/5G polymorphism is not associated with longevity: astudy in octogenarians		173360	13623	2	2001	These data are similar to the allele distribution described in other large cohorts not restricted to old age. Thus the results of this study are not suggestive of an important contribution of the PAI-1 genotype on total mortality.	Cohort 205 subjects aged 80 years and older 										
134228	N	triglyceride levels	METABOLIC	MET		7	7q21.3-q22	PAI1	100561579	100569251	n	Henry M et al. 1997	9157947				serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	healthy		KGB	5054	Hs.414795			Arteriosclerosis, thrombosis, and vascular biology. 1997 May;17(5):851-8	Five frequent polymorphisms of the PAI-1 gene: lack of association between genotypes PAI activity and triglyceride levels in a healthy population.		173360	4878	1	1997												
134229	Y	thrombosis; antiphospholipid syndrome	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Venous Thrombosis|Antiphospholipid Syndrome	7	7q21.3-q22	SERPINE1	100557104	100568431		Tassies, D.  et al. 2000	11037896	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Arthritis and rheumatism. 2000 Oct;43(10):2349-58	The 4G/5G polymorphism of the type 1 plasminogen activator inhibitor gene and thrombosis in patients with antiphospholipid syndrome.		173360	13618	2	2000	 The presence of the 4G allele of the 4G/5G polymorphism of the PAI-1 gene may be an additional risk factor for the development of arterial thrombosis in APS.	Control:100 healthy individuals;Case:247										
134230	Y	lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Proteinuria|Necrosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Wang, A. Y.  et al. 2001	11260416				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese	China	CDC GDPinfo	5054	Hs.414795			Kidney international. 2001 Apr;59(4):1520-8	Plasminogen activator inhibitor-1 gene polymorphism 4G/4G genotype and lupus nephritis in Chinese patients		173360	13619	2	2001	 These findings suggest that the 4G/5G polymorphism of the PAI-1 gene is associated with the activity but not the chronicity of lupus nephritis. The presence of the 4G4G genotype does not increase the risk of developing SLE or lupus nephritis, but predicts the development of higher nephritis activity and more extensive necrotizing lesions.	Control:103 healthy controls;Case:118 systemic lupus erythematosus (SLE) patients										
134225	Y	plasmatic PAI-1 activity	METABOLIC	MET	Arteriosclerosis|Thrombosis	7	7q21.3-q22	PAI1	100561579	100569251		Burzotta F et al. 1998	9493590			promoter	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	Italian	Italy	KGB	5054	Hs.414795			Thrombosis and haemostasis. 1998 Feb;79(2):354-8	4G/5G promoter PAI-1 gene polymorphism is associated with plasmatic PAI-1 activity in Italians: a model of gene-environment interaction.		173360	4875	1	1998												
134226	N	breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21.3-q22	PAI1	100561579	100569251	n	Blasiak J et al. 2000	10961693			promoter	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164			KGB	5054	Hs.414795			Acta biochimica Polonica. 2000 ;47(1):191-9	Plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G promoter polymorphism is not associated with breast cancer.		173360	4876	1	2000												
134227	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	PAI1	100561579	100569251		Ye S et al. 1995	8571307			promoter	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164		France|Northern Ireland	KGB	5054	Hs.414795			Thrombosis and haemostasis. 1995 Sep;74(3):837-41	The 4G/5G genetic polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene is associated with differences in plasma PAI-1 activity but not with risk of myocardial infarction in the ECTIM study. Etude CasTemoins de I'nfarctus du M		173360	4877	1	1995												
134221		meningococcal septic shock	INFECTION	INF	Meningitis, Meningococcal|Meningococcal Infections|Shock, Septic|	7	7q21.3-q22	PAI1	100561579	100569251	OR=5.9	Westendorp RG 1999	10470701	bp I/D(4G/SG). 4G/4G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	meningococcal septic shock pts		KGB	5054	Hs.414795			Lancet. 1999 Aug;354(9178):561-3			173360	4871	1	1999												
134222	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	PAI1	100561579	100569251	n	Sugano T 1998	9622220	PAI- 1 promoter (4G/5G single nucleotide deletion/ insertion at postion 675			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	Japanese	Japan	KGB	5054	Hs.414795			Blood coagulation & fibrinolysis. 1998 Mar;9(2):201-4			173360	4872	1	1998		Case:66; Control:62										
134224	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	PAI1	100561579	100569251		Margaglione M et al. 1998	9484978				serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164			KGB	5054	Hs.414795			Arteriosclerosis, thrombosis, and vascular biology. 1998 Feb;18(2):152-6	The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery disease.		173360	4874	1	1998												
134217		Asthma	IMMUNE	IMM	Asthma	7	7q21.3-q22	PAI1	100561579	100569251		Cho SH 2001	11496236	4G/5G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164		Great Britain	KCB	5054	Hs.414795			The Journal of allergy and clinical immunology. 2001 Aug;108(2):212-4			173360	4867	1	2001												
134218		Asthma	IMMUNE	IMM	Asthma	7	7q21.3-q22	PAI1	100561579	100569251		Cho SH 2001	11496236	4G/5G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164		Great Britain	KCB	5054	Hs.414795			The Journal of allergy and clinical immunology. 2001 Aug;108(2):212-4			173360	4868	1	2001												
134220		Severe trauma. mortality	OTHER	OTH	Sepsis|Wounds and Injuries|Multiple Organ Failure|	7	7q21.3-q22	PAI1	100561579	100569251	???	Menges T 2001	11297964	bp I/D(4G/SG). 4G/4G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	61 severe trauma pts		KGB	5054	Hs.414795	mortality		Lancet. 2001 Apr;357(9262):1096-7			173360	4870	1	2001												
134214	Y	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Gardemann A et al. 1999	10494775				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Thrombosis and haemostasis. 1999 Sep;82(3):1121-6	The 4G4G genotype of the plasminogen activator inhibitor 4G/5G gene polymorphism is associated with coronary atherosclerosis in patients at high risk for this disease.		173360	4864	1	1999	 The present data indicate that the 4G/4G genotype of the PAI-I gene polymorphism is an independent risk factor for coronary artery disease and that the additional presence of major cardiovascular risk factors accelerates the risk for this disease.											
134215	Y	decreased risk of cerebrovascular mortality	OTHER	OTH	Cerebrovascular Disorders|Cardiovascular Diseases|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Roest M et al. 2000	10618306				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Circulation. 2000 Jan;101(1):67-70	Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women.		173360	4865	1	2000	 These findings are suggestive of an important contribution of PAI-1 in cerebrovascular pathology, probably via pathways other than fibrinolysis. PAI-1 may protect against destabilization of the atherosclerotic plaque, or it may inhibit neurotoxicity of tissue plasminogen activator in the brain.											
134216		Coronary Artery Disease. Plasma Lipoproteins. and Longevity	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	PAI1	100561579	100569251		Benes P 2001	11357934	C766T			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164	Czech Caucasian	Czech Republic	TJB	5054	Hs.414795			Journal of molecular medicine (Berlin, Germany). 2001 Apr;79(3-Feb):116-20			173360	4866	1	2001		Case:654; Control:525										
134211		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Mansfield MW 1994	7974340				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		Y Wang	5054	Hs.414795	diabetic retinopathy		Thrombosis and haemostasis. 1994 Jun;71(6):731-6	Polymorphisms of the plasminogen activator inhibitor-1 gene in type 1 and type 2 diabetes, and in patients with diabetic retinopathy.		173360	4861	1	1994												
134212	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Hefler L 2004	14706682	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		173360	4862	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
134213	N	intimal medial thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases	7	7q21.3-q22	SERPINE1	100557104	100568431		Fox CS 2004	14963283	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Massachusetts	KGB	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of association between polymorphisms in the hemostatic factor pathway genes and carotid intimal medial thickness: the Framingham Heart Study.		173360	4863	1	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort										
134208		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Nagi DK 1997	9250459	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Pima Indians	Arizona	Y Wang	5054	Hs.414795	diabetic retinopathy		Diabetes care. 1997 Aug;20(8):1304-9	Diabetic retinopathy, promoter (4G/5G) polymorphism of PAI-1 gene, and PAI-1 activity in Pima Indians with type 2 diabetes.		173360	4858	1	1997	 Although diabetic retinopathy in Pima Indians with type 2 diabetes is not associated with PAI-1 activity, subjects with the 4G/4G and 4G/5G genotype had a higher prevalence of retinopathy compared with 5G/5G PAI-1genotype. These preliminary findings indicate that in Pima Indians with type 2 diabetes, presence of the 4G allele of the PAI-1 gene was associated with a higher risk of diabetic retinopathy.											
134209		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Mansfield MW1995	8560407				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			Y Wang	5054	Hs.414795	Complications		Thrombosis and haemostasis. 1995 Oct;74(4):1032-4	Plasminogen activator inhibitor-1 (PAI-1) promoter polymorphism and coronary artery disease in non-insulin-dependent diabetes.		173360	4859	1	1995												
134210		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Kimura H 1998	9844142				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			Y Wang	5054	Hs.414795	Complications		Kidney international. 1998 Nov;54(5):1659-69	Polymorphisms of angiotensin converting enzyme and plasminogen activator inhibitor-1 genes in diabetes and macroangiopathy1.		173360	4860	1	1998	 These results indicate that the ACE DD genotype and its interaction with the PAI-1 4G4G genotype are independent risk factors for macroangiopathy, but not for the progression of diabetic nephropathy in NIDDM patients, and that the genotyping of PAI-1 and ACE polymorphisms, especially in patients with advanced diabetic nephropathy, may be useful for predicting and preventing macroangiopathy-related events.											
134205		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Santos KG 2003	12951282				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Brazil|Europe	Y Wang	5054	Hs.414795	diabetic retinopathy		Diabetes research and clinical practice. 2003 Aug;61(2):133-6	Diabetic retinopathy in Euro-Brazilian type 2 diabetic patients: relationship with polymorphisms in the aldose reductase, the plasminogen activator inhibitor-1 and the methylenetetrahydrofolate reductase genes.		173360	4855	1	2003												
134206	N	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Petrovic D 2003	14631138				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		Y Wang	5054	Hs.414795	Complications		Cardiology. 2003 ;100(3):157-8	4G4G genotype of PAI-1 gene promoter polymorphism is not associated with myocardial infarction in Caucasians with type-2 diabetes.		173360	4856	1	2003												
134207		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Mansfield MW1995	8571308				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		Y Wang	5054	Hs.414795			Thrombosis and haemostasis. 1995 Sep;74(3):842-7	Environmental and genetic factors in relation to elevated circulating levels of plasminogen activator inhibitor-1 in Caucasian patients with non-insulin-dependent diabetes mellitus.		173360	4857	1	1995												
134202	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Proteinuria|Necrosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Wang AY 2001	11260416				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese	China	Y Wang	5054	Hs.414795			Kidney international. 2001 Apr;59(4):1520-8	Plasminogen activator inhibitor-1 gene polymorphism 4G/4G genotype and lupus nephritis in Chinese patients.		173360	4852	1	2001	 These findings suggest that the 4G/5G polymorphism of the PAI-1 gene is associated with the activity but not the chronicity of lupus nephritis. The presence of the 4G4G genotype does not increase the risk of developing SLE or lupus nephritis, but predicts the development of higher nephritis activity and more extensive necrotizing lesions.	Control:103 healthy controls;Case:118 systemic lupus erythematosus (SLE) patients										
134203	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Volzke H 2004	12899665	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		173360	4853	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
134204		Postprandial variations in fibrinolytic activity	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Sanders TA 2004	15051600				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795	increase in plasma triacylglycerols		The American journal of clinical nutrition. 2004 Apr;79(4):577-81	Postprandial variations in fibrinolytic activity in middle-aged men are modulated by plasminogen activator inhibitor I 4G-675/5G genotype but not by the fat content of a meal.		173360	4854	1	2004	 Fibrinolytic activity is not lower after meals rich in palmitate or oleate than after a low-fat meal.	Cohort 32 men Cohort 51 men	diet									
134199	Y	myocardial infarction	CARDIOVASCULAR	CARD	Carcinoma, Hepatocellular|Liver Neoplasms|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Eriksson P et al. 1995	7892190				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Proceedings of the National Academy of Sciences of the United States of America. 1995 Mar;92(6):1851-5	Allele-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction.		173360	4849	1	1995												
134200	N	lipid profiles and ischemic stroke.	METABOLIC	MET	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Chen CH 2003	12960956			5'promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Taiwan	KGB	5054	Hs.414795			The Journal of laboratory and clinical medicine. 2003 Aug;142(2):100-5	4G/5G promoter polymorphism of plasminogen activator inhibitor-1, lipid profiles~~~ and ischemic stroke.		173360	4850	1	2003	Our findings suggest that PAI-1 4G/5G promoter polymorphism alone is not associated with ischemic stroke. However, this polymorphism influences lipid levels, and the underlying mechanism must be determined.	Case:100 patients with ischemic stroke;Control:150 age- and sex-matched control subjects										
134201		impaired fibrinolysis	REPRODUCTION	REP	Abortion, Spontaneous|Abortion, Habitual	7	7q21.3-q22	SERPINE1	100557104	100568431		Dossenbach-Glaninger A 2003	12816904				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Clinical chemistry. 2003 Jul;49(7):1081-6	Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss.		173360	4851	1	2003	 Homozygosity for PAI-1 4G or FXIII 34Leu polymorphisms as well as compound carrier status is associated with early pregnancy loss.	Control:48 unrelated parous healthy controls without a history of pregnancy loss;Case:49 unrelated Caucasian women with a history of two consecutive or three to six nonconsecutive early pregnancy losses										
134196	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q21.3-q22	SERPINE1	100557104	100568431	n	Persico AM et al. 2001	11525425			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		United States|Italy|Netherlands	KGB	5054	Hs.414795			Psychiatric genetics. 2001 Jun;11(2):99-103	No association between the 4g/5G polymorphism of the plasminogen activator inhibitor-1 gene promoter and autistic disorder.		173360	4846	1	2001	We thus found no evidence that this polymorphism, or putative functionally relevant gene variants in linkage disequilibrium with it, confer vulnerability to autistic disorder.	167 trios with autistic probands Italy and United States										
134197	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Thinness	7	7q21.3-q22	SERPINE1	100557104	100568431		Hoffstedt J et al. 2002	12032637				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Diabetologia. 2002 Apr;45(4):584-7	The common -675 4G/5G polymorphism in the plasminogen activator inhibitor -1 gene is strongly associated with obesity.		173360	4847	1	2002	Thus, the common -675 4G/5G polymorphism in the PAI-1 gene is strongly linked to obesity and a markedly increased risk for obesity is associated with the 4G allele in its homozygous form.	Control:188 lean Scandinavian subjects;Case:70/247 overweight (n=70,BMI 25-30 kg/m(2)) and obese (n=247) otherwise healthy Scandinavian subjects										
134198	N	coronary artery disease and myocardial infarction.	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431	n	Anderson JL et al. 1999	10577569				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Journal of the American College of Cardiology. 1999 Nov;34(6):1778-83	Lack of association of a common polymorphism of the plasminogen activator inhibitor-1 gene with coronary artery disease and myocardial infarction.		173360	4848	1	1999	 A common PAI-1 polymorphism (4G) was not importantly associated with angiographic CAD or history of MI in a Caucasian population. Modest risk (i.e., OR <1.5), especially for MI, or risk in association with other factors, cannot be excluded.											
134193	Y	thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Antithrombin III Deficiency	1	1q23-q25.1	SERPINC1	172139564	172153096		Daly M et al. 1996	8735803				serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF130100			KGB	462	Hs.75599			Blood Coagul Fibrinolysis	Type I antithrombin deficiency: five novel mutations associated with thrombosis.			915	1	1996												
134194	N	Arterial and venous thrombosis	CARDIOVASCULAR	CARD	Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431	n	Ridker PM et al. 1997	8994417			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		United States	KGB	5054	Hs.414795			Circulation. 1997 Jan;95(1):59-62	Arterial and venous thrombosis is not associated with the 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor gene in a large cohort of US men.		173360	4844	1	1997	 These data indicate that the 4G/5G polymorphism in the promoter of the PAI-1 gene is not a major pathogenetic risk factor for arterial or venous thrombosis among middle-aged men.											
134195	N	longevity	AGING	AGE		7	7q21.3-q22	SERPINE1	100557104	100568431	n	Lottermoser K et al. 2001	11485022				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			KGB	5054	Hs.414795			Journal of molecular medicine (Berlin, Germany). 2001 Jun;79(6-May):289-93	The plasminogen activator inhibitor 1 4G/5G polymorphism is not associated with longevity: a study in octogenarians.		173360	4845	1	2001												
134190		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q23-q25.1	SERPINC1	172139564	172153096		Zee RY et al. 1991	1685742				Serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000488.2			KGB	462	Hs.75599			Journal of hypertension. 1991 Sep;9(9):825-30	Association and linkage analyses of restriction fragment length polymorphisms for the human renin and antithrombin III genes in essential hypertension.			912	1	1991												
134191		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q23-q25.1	SERPINC1	172139564	172153096		Zee RY et al. 1991	1685742				Serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000488.2			KGB	462	Hs.75599			Journal of hypertension. 1991 Sep;9(9):825-30	Association and linkage analyses of restriction fragment length polymorphisms for the human renin and antithrombin III genes in essential hypertension.			913	1	1991												
134192	Y	severe childhood thrombosis	CARDIOVASCULAR	CARD	Thrombosis	1	1q23-q25.1	SERPINC1	172139564	172153096		Picard V 2003	12595305	Phe229Leu			Serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000488.2			KGB	462	Hs.75599			Blood. 2003 Aug;102(3):919-25	Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.			914	1	2003												
134187	Y	obesity	METABOLIC	MET	Obesity	14	14q32.1	SERPINA6	93840337	93859441		Barat, P.  et al. 2005	16222046				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001756.3			CDC GDPinfo	866	Hs.532635			Obesity research. 2005 Sep;13(9):1485-90	Corticosteroid binding globulin gene polymorphism influences cortisol driven fat distribution in obese women.		122500	13617	2	2005												
134188		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	14	14q32.1	SERPINA6	93840337	93859441		Donn, R. P.  et al. 2002	12154211				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001756.3		Great Britain	CDC GDPinfo	866	Hs.532635			Rheumatology (Oxford, England). 2002 Aug;41(8):930-6	Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.		122500	27204	2	2002	 The lack of association with polymorphisms of these neuroendocrine genes suggests that they are not involved in susceptibility to JIA.	Control:276 unrelated, healthy UK Caucasian controls;Case:463 clinically characterized UK Caucasian JIA patients										
134189	Y	defective heparin binding associated	OTHER	OTH	Intracranial Embolism and Thrombosis|Antithrombin III Deficiency	1	1q23-q25.1	SERPINC1	172139564	172153096		Okajima K et al. 1993	8443391				Serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000488.2			KGB	462	Hs.75599			Blood. 1993 Mar;81(5):1300-5	Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.			911	1	1993												
134184		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Cacabelos, R.   2002	12452480				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		107280	28315	2	2002	Review article											
134185		infertility, male	REPRODUCTION	REP	Oligospermia	14	14q32.1	SERPINA5	94117563	94129205		Gianotten, J.  et al. 2004	15377716				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000624.3			CDC GDPinfo	5104	Hs.510334			Molecular human reproduction. 2004 Nov;10(11):807-13	Absence of mutations in the PCI gene in subfertile men.		601841	19377	2	2004	The fact that we were not able to detect causal mutations in the PCI gene does not necessarily lead to the conclusion that the PCI protein is not involved in human male fertility, but the results of our study indicate that mutations in the human PCI gene are not a common cause of reduced semen parameters in men.	Case:27/34 Male partners of subfertile couples with idiopathic azoospermia (n=27) or teratozoospermia (n=34);Control:34/80 men with normozoospermia initially tested (n=34) and an additional group of controls (n=80)										
134186		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	14	14q32.1	SERPINA6	93840337	93859441		Torpy, D. J.  et al. 2004	15554358				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001756.3			CDC GDPinfo	866	Hs.532635			Endocrine research. 2004 Aug;30(3):417-29	Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism.		122500	13616	2	2004	Homozygosity for the serine allele of the CBG gene may predispose to CFS, perhaps due to an effect on hypothalamic-pituitary-adrenal axis function related to altered CBG-cortisol transport function or immune-cortisol interactions.	Control:248:controls;Case:248 patients with chronic fatigue syndrome										
134181	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Hu, C.  et al. 2000	11099722				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Chinese		CDC GDPinfo	12	Hs.534293			Journal of the neurological sciences. 2000 Dec;181(2-Jan):127-31	Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan		107280	27203	2	2000	Among these nine candidate genes of AD, the ApoE-4 allele is the only independent genetic risk factor for AD. The other candidate genes in this study were not associated with the occurrence of AD. In addition, there are no gene-gene interactions.	Control:110 non-affected elder individuals among:Taiwan;Case:82 AD patients:Taiwan										
134182		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Clarimon, J.  et al. 2003	12782964				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Spanish	Spain	CDC GDPinfo	12	Hs.534293			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		107280	27611	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
134183		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Sandford, A. J.  et al. 2002	12149538				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		107280	27989	2	2002	Review article		smoking (tobacco)									
134178		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Chappell, S.  et al. 2005	16278826				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Human mutation. 2006 Jan;27(1):103-9	Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.		107280	23383	2	2005												
134179		dementia in other conditions	PSYCH	PSY	Cerebrovascular Accident|Dementia	14	14q32.1	SERPINA3	94128146	94160143		Arpa, A.  et al. 2003	12736093				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Journal of the neurological sciences. 2003 Jun;210(2-Jan):77-82	Apolipoprotein E, angiotensin-converting enzyme and alpha-1-antichymotrypsin genotypes are not associated with post-stroke dementia.		107280	25515	2	2003	Our data indicate that PSD is not associated with the genetic risk factors of vascular dementia (VD) that were studied, and that additional factors may contribute to the pathogenesis of PSD.	Cohort 150 consecutive patients evaluated 3 months after suffering acute strokes 										
134180		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	14	14q32.1	SERPINA3	94128146	94160143			15612581				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Molekuliarnaia biologiia. 2004 Nov-Dec;38(6):973-9	[Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases]		107280	25516	2	2004	These findings suggest that genetic polymorphism in the promoter of MMPI gene may be associated with individual susceptibility to the development of COPD.	Control:controls;Case:239/34/33/151/57 patients with COPD (n = 239), nonobstructive chronic bronchitis (n = 34), brochiectases (n = 33), chronic infant lung disease (n = 151) and cystic fibrosis (n = 57)										
134175		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	14	14q32.1	SERPINA3	94128146	94160143		Licastro, F.  et al. 2005	15653173				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		Italy	CDC GDPinfo	12	Hs.534293			Neurobiology of aging. 2005 Apr;26(4):449-53	A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease		107280	23380	2	2005	The ACT gene appears to influence the early clinical development of the disease, and the interaction of the ACT and APOE genes affects clinical progression of AD.	Cohort patients from northern Italy with a clinical diagnosis of probable Alzheimer's disease, and patients with early onset early onset Alzheimer's disease) from UK with Alzheimer's disease Italy and UK 										
134176		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Tang, G.  et al. 2002	11992569				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			American journal of medical genetics. 2002 May;114(4):446-9	Genetic study of apolipoprotein E gene, alpha-1 antichymotrypsin gene in sporadic Parkinson disease.		107280	23381	2	2002	Therefore, our data suggested that the ApoE varepsilon2/varepsilon4 genotype might be a susceptibility variant of moderate effect for sporadic idiopathic PD in our samples, whereas the ACT gene signal peptide polymorphism might not.	Control:160 healthy subjects;Case:68 Parkinson disease patients Shanghai China										
134177		asthma	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA3	94128146	94160143		Malerba, G.  et al. 2001	11295654				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Italian		CDC GDPinfo	12	Hs.534293			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8	Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.		107280	23382	2	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.	Cohort 189 families (847 genotyped individuals) from a restricted geographic region northeastern Italy 										
134172		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q32.1	SERPINA3	94128146	94160143		Hao, Y.  et al. 2001	11769703				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		China	CDC GDPinfo	12	Hs.534293			Zhonghua yi xue za zhi. 2001 Oct;81(19):1172-5	[Association between polymorphism of alpha 1-antichymotrypsin and apolipoprotein E gene and Parkinson's disease in Shanghai Hans]		107280	23377	2	2001	 The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans.	Control:101 healthy elderly persons;Case:64 Parkinson's disease cases										
134173		sporadic inclusion body myositis	UNKNOWN	UNK	Myositis, Inclusion Body	14	14q32.1	SERPINA3	94128146	94160143		Gossrau, G.  et al. 2004	15159602				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			European neurology. 2004 ;51(4):215-20	Apolipoprotein E and Alpha-1-Antichymotrypsin Polymorphisms in Sporadic Inclusion Body Myositis		107280	23378	2	2004	Therefore, allelic variations of alpha(1)-ACT and ApoE are unlikely to be genetic key factors in the aetiology of s-IBM.	Cohort 35 sporadic inclusion body myositis patients 										
134174		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Hernandez-Charro, B.  et al. 2004	15482730				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Med Clin (Barc). 2004 Sep;123(7):251-4	[ACT/AA polymorphism could duplicate the APOE*epsilon4-associated Alzheimer's disease risk.]		107280	23379	2	2004	 APOE*epsilon4 heterozygous and homozygous carriers have a 3 and 9 times higher risk, respectively, of developing AD. We could not demonstrate an effect of ACT polymorphisms as a independent risk factor for this disease; however, the ACT/AA genotype seems to act as an additional susceptibility factor, duplicating the APOE*epsilon4-associated AD risk.	Control:188 control individuals 70-71 years of age;Case:98 patients with late-onset Alzheimer's disease										
134169		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q32.1	SERPINA3	94128146	94160143		Lin, J. J.  et al. 2004	15542006				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		Taiwan	CDC GDPinfo	12	Hs.534293			Parkinsonism & related disorders. 2004 Dec;10(8):469-73	The homozygote AA genotype of the alpha1-antichymotrypsin gene may confer protection against early-onset Parkinson's disease in women.		107280	19375	2	2004	This study shows that ACT-AA may confer a modest protection against developing early-onset PD in women.	Case:210 Taiwanese patients with clinical definite sporadic Parkinson's disease;Control:260 controls matched by age and sex										
134170		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Ki, C.  et al. 2001	11290389				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Korean	Korea	CDC GDPinfo	12	Hs.534293			Neuroscience letters. 2001 Apr;302(3-Feb):69-72	Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease		107280	23375	2	2001	Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.	Control:50 age-matched healthy controls:Korea;Case:89 Korean late-onset Alzheimer's disease patients:Korea										
134171		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Jiang, S.  et al. 1999	11715411				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Zhonghua yi xue za zhi. 1999 Aug;79(8):610-2	The association between microsatellite polymorphism of alpha 1-antichymotrypsin gene and Alzheimer's disease		107280	23376	2	1999	 AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.	Control:62 controls not otherwise specified in abstract;Case:63 Alzheimer's disease patients from Han population of Shanghai area:China										
134166	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Brain Ischemia	14	14q32.1	SERPINA3	94128146	94160143		Tachikawa, H.  et al. 2001	11289720				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Japanese		CDC GDPinfo	12	Hs.534293			Journal of human genetics. 2001 ;46(1):45-7	alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease.		107280	19368	2	2001	These results suggest that ACT lsehara-1 is a new genetic risk factor for ischemic CVD, especially lacunar-type infarction, in Japan.	Control:397 age-matched controls;Case:87 patients with ischemic cardiovascular disease										
134167	N	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|alpha 1-Antitrypsin Deficiency|Chronic Disease	14	14q32.1	SERPINA3	94128146	94160143		Witt, H.  et al. 2002	11916200				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Scandinavian journal of gastroenterology. 2002 Mar;37(3):356-9	Alpha1-antitrypsin genotypes in patients with chronic pancreatitis.		107280	19370	2	2002	 Alpha1-antitrypsin deficiency is not related to the pathogenesis of idiopathic or hereditary CP.	Control:185 healthy controls not otherwise specified in:abstract;Case:96 unrelated children and adolescents with idiopathic or hereditary chronic pancreatitis										
134168		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Wang, X.  et al. 2002	11959399				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Neurobiology of aging. 2002 May-Jun;23(3):377-82	Distribution of plasma alpha 1-antichymotrypsin levels in Alzheimer disease patients and controls and their genetic controls.		107280	19371	2	2002	In conclusion, ACT may play an important role in the AD pathogenesis and genetic variation in the ACT gene appears to have some effect on plasma ACT concentrations.	Control:118:controls;Case:397 Alzheimer's disease cases										
134163		multiple system atrophy	OTHER	OTH	Encephalitis|Multiple System Atrophy|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Furiya, Y.  et al. 2005	15907346				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Brain research  Molecular brain research. 2005 Aug;138(2):178-81	Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA).		107280	13613	2	2005	Our findings suggest the involvement of ACT-relating inflammatory process in the pathogenesis of MSA.	Control age-matched controls;Case:105 patients with multiple system atrophy										
134164	Y	stroke; dementia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Dementia|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Klimkowicz, A.  et al. 2005	15935385				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Journal of the neurological sciences. 2005 Jul;234(2-Jan):31-6	Post-stroke dementia is associated with alpha(1)-antichymotrypsin polymorphism.		107280	13614	2	2005	 Our findings suggest that ACT polymorphism (A/T) is a risk factor for PSD.											
134165		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Kamboh, M. I.  et al. 2005	16137793				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Neurobiology of aging. 2005	Alpha-1-antichymotrypsin (ACT or SERPINA3) polymorphism may affect age-at-onset and disease duration of Alzheimer's disease.		107280	13615	2	2005												
134160	Y	hemorrhage, intracerebral	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Hypertension|Diabetes Mellitus	14	14q32.1	SERPINA3	94128146	94160143		Fu, Y.  et al. 2002	12126519				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Zhonghua yi xue za zhi. 2002 Jul;82(13):915-7	[Association between alpha-1-antichymotrypsin gene polymorphism and cerebral hemorrhage]		107280	13606	2	2002	 ACT gene polymorphism and primary hypertension are both independent risk factors of cerebral hemorrhage. The ACT AT and TT genotypes show a significant gene-environment interaction, however, of different types, with both primary hypertension and diabetes mellitus in the occurrence of cerebral hemorrhage.	Case:220 patients with cerebral hemorrhage;Control:276:controls										
134161	N	vasculitis	OTHER	OTH	Vasculitis	14	14q32.1	SERPINA3	94128146	94160143		Borgmann, S.  et al. 2002	12685871				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Autoimmunity. 2002 Nov;35(7):435-9	Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis.		107280	13607	2	2002	Therefore, we can not support the hypothesis that AACT polymorphism contributes to the pathogenesis of PR3-ANCA vasculitis. Nor is it probable that any factor, coded by the serpin gene cluster, contributes to MPO-ANCA vasculitis.	Control:128 control persons;Case:79/30 PR3-ANCA (n=70) and MPO-ANCA (n=30) associated vasculitides patients										
134162	Y	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Inflammation	14	14q32.1	SERPINA3	94128146	94160143		Slowik, A.  et al. 2005	15718509				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		Poland	CDC GDPinfo	12	Hs.534293			Stroke; a journal of cerebral circulation. 2005 Apr;36(4):737-40	Alpha1-antichymotrypsin gene (SERPINA3) A/T polymorphism as a risk factor for aneurysmal subarachnoid hemorrhage.		107280	13612	2	2005	 The A/T polymorphism of SERPINA3 gene is associated with the risk factor for aneurysmal SAH.	Case:180 patients with aneurysmal subarachnoid hemorrhage;Control:263 healthy controls										
134157		cerebral amyloid angiopathy	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Durany, N.  et al. 2000	11132933				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Neuropathology. 2000 Sep;20(3):184-9	Increased frequency of the alpha-1-antichymotrypsin T allele in cerebral amyloid angiopathy.		107280	13600	2	2000	There was a significantly increased T allele and TT genotype frequency in the CAA group, but not in the AD group, suggesting a role for the ACT genotype in the development of vascular lesions.The presence of the apolipoprotein E4 allele (ApoE4) did not correlate with the ACT-A allele, as previously reported, and appeared to be independent of the risk for developing AD.	Case Alzheimer's disease and Cerebral amyloid angiopathy:cases;Control intellectually intact controls										
134158		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q32.1	SERPINA3	94128146	94160143		Wang, Y. C.  et al. 2001	11385264				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			European neurology. 2001 ;45(4):254-6	Genetic association analysis of alpha-1-antichymotrypsin polymorphism in Parkinson's disease.		107280	13602	2	2001	We suggest that the ACT polymorphism might play some role in the pathogenesis of PD, especially in the onset.	Case Parkinson's disease patients;Control not specified in abstract										
134159		stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Hemorrhage|Hypertension|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Obach, V.  et al. 2001	11692021				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			CDC GDPinfo	12	Hs.534293			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2588-91	alpha(1)-antichymotrypsin polymorphism: a riskfactor for hemorrhagic stroke in normotensive subjects		107280	13603	2	2001	 These findings confirm in a larger series of patients the association between the ACT-TT genotype and HS. This polymorphism is more prevalent in normotensive bleedings. Pathological studies will be required to establish whether the ACT-TT genotype facilitates proteolytic rupture of vessels that harbor amyloidotic changes or another form of nonhypertensive cerebral angiopathy.	Control:182 patients with ischemic stroke (symptomatic:controls);Control:80 asymptomatic control subjects;Case:99 patients with hemorrhagic stroke										
134154		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Meng G et al. 2000	10980547				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Chinese	China	KGB	12	Hs.534293			Human mutation. 2000 Sep;16(3):275-6	An association study of polymorphisms in the alpha-antichymotrypsin gene for Alzheimer disease in Han-Chinese.		107280	79	1	2000												
134151	Y	osteoarthritis	METABOLIC	MET	Arthritis, Psoriatic|Arthritis, Rheumatoid|Osteoarthritis|Polymyalgia Rheumatica|Psoriasis	14	14q32.1	SERPINA3	94128146	94160143		Sakkas LI et al. 1990	1974162				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			British journal of rheumatology. 1990 Aug;29(4):245-8	Association of osteoarthritis with homozygosity for a 5.8 kb Taq I fragment of the alpha 1-antichymotrypsin gene.		107280	76	1	1990												
134152	N	PR3-ANCA and MPO-ANCA associated vasculitis	OTHER	OTH	Vasculitis	14	14q32.1	SERPINA3	94128146	94160143	n	Borgmann S et al. 2002	12685871				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Autoimmunity. 2002 Nov;35(7):435-9	Lack of association of alpha-1 antichymotrypsin gene polymorphism with PR3-ANCA and MPO-ANCA associated vasculitis.		107280	77	1	2002	Therefore, we can not support the hypothesis that AACT polymorphism contributes to the pathogenesis of PR3-ANCA vasculitis. Nor is it probable that any factor, coded by the serpin gene cluster, contributes to MPO-ANCA vasculitis.	Control:128 control persons;Case:79/30 PR3-ANCA (n=70) and MPO-ANCA (n=30) associated vasculitides patients										
134153	Y	cerebral hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Hypertension|Diabetes Mellitus	14	14q32.1	SERPINA3	94128146	94160143		Fu Y et al. 2002	12126519				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Zhonghua yi xue za zhi. 2002 Jul;82(13):915-7	Association between alpha-1-antichymotrypsin gene polymorphism and cerebral hemorrhage		107280	78	1	2002	 ACT gene polymorphism and primary hypertension are both independent risk factors of cerebral hemorrhage. The ACT AT and TT genotypes show a significant gene-environment interaction, however, of different types, with both primary hypertension and diabetes mellitus in the occurrence of cerebral hemorrhage.	Case:220 patients with cerebral hemorrhage;Control:276:controls										
134148	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Jiang S et al. 1999	11715411				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Zhonghua yi xue za zhi. 1999 Aug;79(8):610-2	The association between microsatellite polymorphism of alpha 1-antichymotrypsin gene and Alzheimer's disease		107280	73	1	1999	 AACT * A6 allele may be associated with AD negatively in Shanghai area, and this effect only exists in non-ApoE * epsilon 4 AD.	Control:62 controls not otherwise specified in abstract;Case:63 Alzheimer's disease patients from Han population of Shanghai area:China										
134149		COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA3	94128146	94160143		Poller W 1992	1351206				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Lancet. 1992 Jun;339(8808):1538			107280	74	1	1992												
134145	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143	n	Ki CS 2001	11290389	A/T			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Korean	Korea	TJB	12	Hs.534293			Neuroscience letters. 2001 Apr;302(3-Feb):69-72	Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease		107280	70	1	2001	Our results do not support previously reported association of ACT and A2M with LOAD, at least in Korean population.	Control:50 age-matched healthy controls:Korea;Case:89 Korean late-onset Alzheimer's disease patients:Korea										
134146	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143	n	Kim KW et al. 2000	10766998				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Korean	Korea	KGB	12	Hs.534293			American journal of medical genetics. 2000 Apr;91(5):355-8	No association between alpha-1-antichymotrypsin polymorphism and Alzheimer's disease in Koreans.		107280	71	1	2000												
134147		COPD	OTHER	OTH	Lung Diseases, Obstructive|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Ishii T 2000	10849024				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			European journal of clinical investigation. 2000 Jun;30(6):543-8			107280	72	1	2000	 Genetic polymorphism in the signal peptide of AACT may be associated with individual susceptibility to the development of COPD, because the AACT/Ala-15 genotype is predominantly found in patients with COPD. It is suggested that AACT/Ala-15 genotype may be less protective against smoking injury.											
142620	N	Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HSPA1B	31903502	31906010	n	Aron 1999	10221440	Allele L			heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			KCB	3304	Hs.274402			Allergy. 1999 Feb;54(2):165-70			603012	7987	1	1999	 Our data suggest that Hsp70 overexpression in asthma results from complex interactions between environmental exposures and genetic background rather than from specific genetic variations in hsp70 genes.											
142623	Y	clozapine-induced agranulocytosis	OTHER	OTH	Agranulocytosis|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Corzo D et al. 1995	7579351				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			KGB	3304	Hs.274402			Blood. 1995 Nov;86(10):3835-40	The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups.		603012	7990	1	1995	This finding supports our hypothesis that a dominant gene within the MHC region (marked by HSP70-1 and HSP70-2), but not necessarily HLA, is associated with CA in two different ethnic groups.											
142383	Y	celiac disease	IMMUNE	IMM	Celiac Disease			HLA-D				Mermer B et al. 1986	3014038								KGB					The Journal of experimental medicine. 1986 Jul;164(1):333-8	An HLA-D region restriction fragment length polymorphism associated with celiac disease.		142850	7748	1	1986												
134144	N	COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA3	94128146	94160143	n	Sandford AJ 1999	9922220	AACT55Pro			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			American journal of respiratory cell and molecular biology. 1999 Feb;20(2):287-91			107280	69	1	1999												
143241	Y	Type 2 Diabetes  Mellitus	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q23.3	ACE	58908165	58952935	0.048	Singh, P.P. et al. 2006	16621107	Odds ratio analyses revealed the association of DD genotype (OR=1.9, CI-1.00-3.7, p < 0.05) and *D allele (OR=1.58, CI-1.03-2.44, p < 0.05) with T2DM in north west population of Punjab, India	Recessive mode of inheritance(having 2 copies of the *D allele) provided the strongest support  for T2DM association (OR=1.92, CI-1.00-3.70, p < 0.05) when the mode of inheritance of this allele in T2DM was investigated	other	angiotensin I converting enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Subjects of Punjab, mixed ethnicity		Puneetpal Singh ( Singh, P.P.)	1636	Hs.298469	NIDDM	ACE(I/D)-DD	Diabetes Research and Clinical Prectice	Association of APOE (Hha1) and ACE (I/D) gene polymorphisms with type 2 diabetes mellitus in North West India.		106180 					ACE but not APOE polymorphism is positively associated with T2DM in Indian population, however, the synergistic effects of DD-33 and ID-23 are also evident.	Case control study										
142426	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	MICA	31475539	31491069		Gonzalez S et al. 2001	11390038				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Jewish		KGB	4276	Hs.549053			Human immunology. 2001 Jun;62(6):632-8	Polymorphism in MICA rather than HLA-B/C genes is associated with psoriatic arthritis in the Jewish population.		600169	7791	1	2001	These results suggest that the MICA gene or other nearby gene(s) may be involved in the development of PsA, and it would thus appear that psoriasis vulgaris (PsV) and PsA are associated with different MHC susceptibility genes.											
142615		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Cavan DA et al. 1994	7914753	DR3		promoter	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Autoimmunity. 1994 ;17(2):123-5	The Bgl II RFLP associated with type 1 diabetes in DR3-positive subjects is not due to a DQA1 promoter region polymorphism.		142857	7981	1	1994												
134133		COPD	OTHER	OTH	Lung Diseases, Obstructive|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Ishii T 2000	10849024	signal peptide . -15 alanine to threonine			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Japanese		KGB	12	Hs.534293			European journal of clinical investigation. 2000 Jun;30(6):543-8			107280	58	1	2000	 Genetic polymorphism in the signal peptide of AACT may be associated with individual susceptibility to the development of COPD, because the AACT/Ala-15 genotype is predominantly found in patients with COPD. It is suggested that AACT/Ala-15 genotype may be less protective against smoking injury.	Case:53; Control:65										
142706	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	16	16q12.2	SLC6A2	54247522	54295201	n	McEvoy B et al. 2002	12210284				solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2	Irish		KGB	6530	Hs.78036			American journal of medical genetics. 2002 Aug;114(6):665-6	No evidence of linkage or association between the norepinephrine transporter (NET) gene polymorphisms and ADHD in the Irish population.		163970	8079	1	2002												
143281	Y	diabetes, type 1	METABOLIC	MET		6	6p21	ITPR3	33697321	33772317	1.30 x 10(-6)	Roach et al. 79(4):614-27	16960798	peak centered on rs2296336, rs2229634, rs2274198		other	inositol 1,4,5-triphosphate receptor, type 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_002224.1	Sweden		Jared C. Roach	3710	Hs.65758	risk	unknown; possibly mRNA splicing	Am J Hum Genet	Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden	rs2296336, rs2229634, rs2274198	147267				Two-locus regression analysis supports an influence of ITPR3 variation on T1D that is distinct from that of any MHC class II gene.	case-control										
134130		COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA3	94128146	94160143		Poller W 1993	8244391	leucine 55-to-proline. proline 229-to-alanine	P229A. was associated with ACT serum deficiency		Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Genomics. 1993 Sep;17(3):740-3			107280	55	1	1993		Case:1 family. 4 other patients; Control:100 healthy control subjects										
134131	N	COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA3	94128146	94160143	n	Benetazzo MG 1999	10542979				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Italian	Italy	KGB	12	Hs.534293			Respiratory medicine. 1999 Sep;93(9):648-54			107280	56	1	1999	We conclude that  alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.	Case:89; Control:143										
134132	Y	Asthma. BHR. Total IgE. SPT	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA3	94128146	94160143	P=<0.05	Malerba G 2001	11295654	Thr-15Ala			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Italian		KCB	12	Hs.534293			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8	Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.		107280	57	1	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.	Cohort 189 families (847 genotyped individuals) from a restricted geographic region northeastern Italy										
134127		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	14	14q32.1	SERPINA1	93914450	93926782		Kornman, K. S.  et al. 2001	11887471				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		107400	28362	2	2001	Review Article											
134128	Y	Asthma. BHR. Total IgE. SPT	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA3	94128146	94160143	P=<0.05	Malerba G 2001	11295654	Thr-15Ala			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KCB	12	Hs.534293			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8	Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.		107280	53	1	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.	Cohort 189 families (847 genotyped individuals) from a restricted geographic region northeastern Italy										
134129		COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA3	94128146	94160143		Benetazzo MG 1999	10542979				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		Italy	KGB	12	Hs.534293			Respiratory medicine. 1999 Sep;93(9):648-54			107280	54	1	1999	We conclude that  alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.											
134124		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	14	14q32.1	SERPINA1	93914450	93926782		Humma, L. M.  et al. 2002	12116890				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		107400	28190	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
134125		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782			11436564				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		107400	28191	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
134126		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	14	14q32.1	SERPINA1	93914450	93926782		French, J. K.  et al. 2003	12514663				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		107400	28256	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
134121		Alzheimer's disease; chronic obstructive pulmonary disease/COPD	NEUROLOGICAL	NEUR		14	14q32.1	SERPINA1	93914450	93926782		Das, K.  et al. 2003	14523999				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Indian		CDC GDPinfo	5265	Hs.525557			Anthropol Anz. 2003 Sep;61(3):261-8	Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India		107400	25514	2	2003	The overall analysis showed that these polymorphisms are useful anthropological markers for micro-evolutionary and genetic structure studies.	Cohort three subpopulations (Bison Horn Maria of the Kuakonda and Tokapal Block, and Abuj Maria of the Abujmar Hills of the Orchha block) of the Maria Gond tribe Madhya Pradesh, India 										
134122		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Sandford, A. J.  et al. 2002	12149538				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		107400	27831	2	2002	Review article		smoking (tobacco)									
134123		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	14	14q32.1	SERPINA1	93914450	93926782			11785295				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		107400	27832	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
134118		cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases|alpha 1-Antitrypsin Deficiency|Disease Progression|Acute-Phase Reaction	14	14q32.1	SERPINA1	93914450	93926782		Frangolias, D. D.  et al. 2003	12689922				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			American journal of respiratory cell and molecular biology. 2003 Sep;29(3 Pt 1):390-6	Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.		107400	23372	2	2003	alpha1-AT genotype did not predict pulmonary disease severity and was not associated with more severe clinical outcome (death or lung transplantation) or age of onset of Pseudomonas aeruginosa infection. BMI was a significant predictor of alpha1-AT levels during exacerbations. alpha1-AT genotype is not a major contributor to the variability of pulmonary disease severity in CF.	Cohort 716 cystic fibrosis patients 										
134119		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	14	14q32.1	SERPINA1	93914450	93926782			15612581				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Molekuliarnaia biologiia. 2004 Nov-Dec;38(6):973-9	[Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases]		107400	23373	2	2004	These findings suggest that genetic polymorphism in the promoter of MMPI gene may be associated with individual susceptibility to the development of COPD.	Control:controls;Case:239/34/33/151/57 patients with COPD (n = 239), nonobstructive chronic bronchitis (n = 34), brochiectases (n = 33), chronic infant lung disease (n = 151) and cystic fibrosis (n = 57)										
134120		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Myocardial Infarction|Thrombosis	14	14q32.1	SERPINA1	93914450	93926782		Jood, K.  et al. 2005	16179568				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Stroke; a journal of cerebral circulation. 2005 Oct;36(10):2077-81	Fibrinolytic gene polymorphism and ischemic stroke.		107400	23374	2	2005	 Neither the tPA -7351C>T nor the PAI-1 to 675 4G>5G polymorphism showed significant association with ischemic stroke. For the tPA CC/PAI-1 4G4G genotype combination, a protective effect was observed. Collectively, these results are consistent with a more complex role for tPA and PAI-1 in the brain as compared with the heart.											
134115	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782			16385367				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Jornal de pediatria. 2005 Nov-Dec;81(6):485-90	[Association between alpha 1 antitrypsin deficiency and cystic fibrosis severity.]		107400	19366	2	2005	 In this study, the first undertaken in Brazil into the association of alpha 1 antitrypsin deficiency and cystic fibrosis, we did not find an association between the deficiency and cystic fibrosis severity.											
134116		asthma	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA1	93914450	93926782		Malerba, G.  et al. 2001	11295654				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Italian		CDC GDPinfo	5265	Hs.525557			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8	Chromosome 14 linkage analysis and mutation study of 2 serpin genes in allergic asthmatic families.		107400	19369	2	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.	Cohort 189 families (847 genotyped individuals) from a restricted geographic region northeastern Italy 										
134117		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Chappell, S.  et al. 2005	16278826				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Human mutation. 2006 Jan;27(1):103-9	Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.		107400	19376	2	2005												
134112		Peyronie's disease	OTHER	OTH	Penile Induration|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Hauck, E. W.  et al. 2004	15474273				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			European urology. 2004 Nov;46(5):623-8; discussion 628	Alpha-1-antitrypsin levels and genetic variation of the alpha-1-antitrypsin gene in Peyronie's disease.		107400	19363	2	2004	 The results of this study do not indicate a significant association between Peyronie's disease and decreased alpha1-antitrypsin levels. Low alpha1-antitrypsin levels in Peyronie's patients are, rather, an age-related phenomenon, as revealed by the comparison with aged matched healthy controls. The decrease of the alpha1-antitrypsin serum level with increasing age has not been described before.	Control healthy controls;Case:141 Peyronie's patients including 43 patients with investigated alpha1-antitrypsin serum levels										
134113		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	14	14q32.1	SERPINA1	93914450	93926782		Zhang, Y.  et al. 2005	16029614				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Zhonghua yi xue za zhi. 2005 May;85(18):1270-3	[The investigation of genotype and expression of alpha1-AT in patients with COPD]		107400	19364	2	2005	 There was no difference in genetic polymorphism of alpha1-AT between the patients with COPD and controls. However, the levels of serum alpha1-AT were significantly lower in the patients with COPD compared with control subjects. alpha1-AT deficiency may be a factor of the pathogenesis of COPD. The mechanism of alpha1-AT deficiency needs to be addressed.											
134114		PAI-1 levels	METABOLIC	MET		14	14q32.1	SERPINA1	93914450	93926782		Kathiresan, S.  et al. 2005	16172282				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Circulation. 2005 Sep;112(12):1728-35	Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels.		107400	19365	2	2005	 Three sequence variants at the PAI-1 locus, in sum, explain approximately 5% of the residual variance in multivariable-adjusted PAI-1 levels. For quantitative cardiovascular traits such as circulating biomarkers, defining LD structure in a candidate gene followed by association analyses with both SNPs and haplotypes is an effective approach to localize common susceptibility alleles.											
134109	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Hayes, V. M.  et al. 2003	14551891				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Africa South of the Sahara	CDC GDPinfo	5265	Hs.525557			The Journal of infectious diseases. 2003 Oct;188(8):1205-8	Are Polymorphic Markers within the alpha-1-Antitrypsin Gene Associated with Risk of Human Immunodeficiency Virus Disease?		107400	19360	2	2003	A significant association between HIV-1 infection and the presence of an allelic variant was observed in the case of the M2 and A332A haplotypes, thus presenting AAT as a potentially novel HIV-1 susceptibility locus.	Cohort 2 African-based populations from HIV-pandemic sub-Saharan Africa sub-Saharan Africa 										
134110	Y	lung function	OTHER	OTH	Respiratory Tract Infections	14	14q32.1	SERPINA1	93914450	93926782		Wadsworth, M. E.  et al. 2004	15271689				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			American journal of respiratory cell and molecular biology. 2004 Nov;31(5):559-64	Alpha1-antitrypsin as a risk for infant and adult respiratory outcomes in a national birth cohort.		107400	19361	2	2004	There was Yo differeYce iY the adult outcomes at 53 years accordiYg to geYotype, Yor was there aYy associatioY of geYotype with chaYge iY FEV1 betweeY 43 aYd 53 year. Lower AAT, as iYdicated by carrier status for the Z aYd S alleles, was a risk for iYfaYt lower respiratory iYfectioY but Yot for adult respiratory outcomes.	Cohort 3,035 individuals from a British national birth cohort 										
134111		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	14	14q32.1	SERPINA1	93914450	93926782		Hersh, C. P.  et al. 2004	15454649				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Thorax. 2004 Oct;59(10):843-9	Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: ameta-analysis.		107400	19362	2	2004	 Case-control studies showed increased odds of COPD in PI MZ individuals, but this finding was not confirmed in cross sectional studies. Variability in study design and quality limits the interpretation. These results are consistent with a small increase in risk of COPD in all PI MZ individuals or a larger risk in a subset. Future studies that adjust for smoking and include other COPD related phenotypes are required to conclusively determine the risk of COPD in PI MZ heterozygotes.											
134106		liver disease	OTHER	OTH	Liver Diseases|alpha 1-Antitrypsin Deficiency|Chronic Disease|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Fischer, H. P.  et al. 2000	11131449				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Journal of hepatology. 2000 Dec;33(6):883-92	Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ.		107400	19357	2	2000	 Patients with heterozygous AATD of PiZ type bear an increased risk for chronic liver disease. If at all, this genetic defect will become clinically relevant only in middle-aged or old adults. It rarely causes liver cirrhosis even without concurrent liver disease. It can aggravate or can be aggravated by advanced coexistent chronic liver diseases. PiZ immunohistochemistry is an easy, highly specific method to detect this metabolic defect on liver biopsies.	Control:1030 autopsies of Caucasian adults;Case:1847 chronic liver disease biopsies of Caucasian adults										
134107		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Dahl, M.  et al. 2002	11848724				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Denmark	CDC GDPinfo	5265	Hs.525557			Annals of internal medicine. 2002 Feb;136(4):270-9	Change in lung function and morbidity from chronic obstructive pulmonary disease in alpha1-antitrypsin MZ heterozygotes: A longitudinal study of thegeneral population.		107400	19358	2	2002	 MZ heterozygotes had a slightly greater rate of decrease in FEV(1) and were modestly over-represented among persons with airway obstruction and COPD. In the population at large, MZ heterozygosity may account for a fraction of COPD cases---on the order of 2%, similar to the percentage of persons with COPD who have the severe but rare ZZ genotype.	Cohort 9187 adults randomly selected from the Danish general population Denmark 										
134103		bronchiectasis; common variable immunodeficiency	OTHER	OTH		14	14q32.1	SERPINA1	93914450	93926782		Scheil, H. G.  et al. 2002	12528263				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Collegium antropologicum. 2002 Dec;26(2):403-10	Allele frequencies of alpha-1-antitrypsin (PI) in the Balkans.		107400	13597	2	2002	Most of the populations form a cluster with small genetic distances, and a weak relationship to geographical distributions. In contrast, the samples from Southern France, the Iberian Peninsula and Madeira form a clearly separated cluster. The differences are mainly based on high frequencies of PI*S in the latter populations.	Cohort population samples from the Balkans 										
134104	N	cervical artery dissection, spontaneous	CARDIOVASCULAR	CARD	Carotid Artery, Internal, Dissection|Vertebral Artery Dissection|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Grond-Ginsbach, C.  et al. 2004	15079023				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Germany|Switzerland	CDC GDPinfo	5265	Hs.525557			Neurology. 2004 Apr;62(7):1190-2	Alpha-1-antitrypsin deficiency alleles are not associated with cervical artery dissections		107400	13598	2	2004	Therefore, AAT deficiency alleles may not play a role in the etiology of sCAD.	Case:74 patietns with spontaneous cervical artery:dissections;Control:74 healthy control subjects										
134105		alpha(1) antitrypsin deficiency	UNKNOWN	UNK	alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782			16387939				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			The European respiratory journal. 2006 Jan;27(1):77-84	Estimated numbers and prevalence of PI*S and PI*Z alleles of {alpha}1-antitrypsin deficiency in European countries		107400	13599	2	2006												
134100	N	cystic fibrosis	OTHER	OTH	Pseudomonas Infections|Cystic Fibrosis|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Meyer, P.  et al. 2002	12372062				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Clinical genetics. 2002 Oct;62(4):325-7	Analysis of the two common alpha-1-antitrypsin deficiency alleles PiMS and PiMZ as modifiers of Pseudomonas aeruginosa susceptibility in cystic fibrosis		107400	13594	2	2002	Our results indicate that PiMS and PiMZ are not associated with worse pulmonary prognosis in CF. These data need to be confirmed in studies with a much larger number of cases.	Cohort 269 CF patients Southern Germany 	Pseudomonas aeruginosa									
134101		bronchiectasis; common variable immunodeficiency	OTHER	OTH	Bronchiectasis|Common Variable Immunodeficiency|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Sansom, M. E.  et al. 2002	12452840				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDPinfo	5265	Hs.525557			Clinical and experimental immunology. 2002 Dec;130	A preliminary assessment of alpha-1 antitrypsin S and Z deficiency allele frequencies in common variable immunodeficiency patients with and without bronchiectasis.		107400	13595	2	2002	Due to the relatively small numbers studied, these results are inconclusive in determining whether AAT deficiency may exacerbate lung damage in some CVID patient, the data does however, indicate that a larger multi-centre study involving many more CVID patients may be useful.	Case:43 common variable immunodeficiency patients;Control:70 normal controls										
134102		periodontitis	IMMUNE	IMM	Periodontitis|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Scott, D. A.  et al. 2002	12492914				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Great Britain	CDC GDPinfo	5265	Hs.525557			Journal of clinical periodontology. 2002 Dec;29(12):1118-21	Analysis of two common alpha 1-antitrypsin deficiency alleles (PI*Z and PI*S) in subjects with periodontitis.		107400	13596	2	2002	 We did not find evidence to support an association between mutant PI* alleles and periodontitis in a small, controlled study. Larger studies will be required to clarify the relationship between alpha1-antitrypsin genotype and susceptibility to inflammatory periodontal disease.	Case:31 subjects with periodontitis;Control:31 healthy controls matched for smoking status, ethnicity, age and gender										
134097	Y	alphal-antitrypsin deficiency	OTHER	OTH	Vasculitis|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Takii Y 2003	12879958				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1				KGB	5265	Hs.525557			Internal medicine (Tokyo, Japan). 2003 Jul;42(7):619-23	Systemic vasculitis associated with alphal-antitrypsin deficiency.		107400	4984	1	2003												
134098		cystic fibrosis lung disease	OTHER	OTH	Cystic Fibrosis|Lung Diseases|alpha 1-Antitrypsin Deficiency|Disease Progression|Acute-Phase Reaction	14	14q32.1	SERPINA1	93914450	93926782		Frangolias DD 2003	12689922				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			American journal of respiratory cell and molecular biology. 2003 Sep;29(3 Pt 1):390-6	Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.		107400	4985	1	2003	alpha1-AT genotype did not predict pulmonary disease severity and was not associated with more severe clinical outcome (death or lung transplantation) or age of onset of Pseudomonas aeruginosa infection. BMI was a significant predictor of alpha1-AT levels during exacerbations. alpha1-AT genotype is not a major contributor to the variability of pulmonary disease severity in CF.	Cohort 716 cystic fibrosis patients										
134099		normal variation	NORMALVARIATION	NV	alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Hayes VM 2003	12815594				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Africa South of the Sahara|India|China|Europe	KGB	5265	Hs.525557			Human mutation. 2003 Jul;22(1):59-66	Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay.		107400	4986	1	2003												
134094	Y	psoriasis	IMMUNE	IMM	Psoriasis	14	14q32.1	SERPINA1	93914450	93926782		Poncet D et al. 1980	6155027				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Acta dermato-venereologica. 1980 ;60(2):163-64	Association between psoriasis and the alpha 1-antitrypsin deficiency gene Z.		107400	4981	1	1980												
134095	N	hemochromatosis	METABOLIC	MET	Hemochromatosis|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782	n	Eriksson S et al. 1986	3486552				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Sweden	KGB	5265	Hs.525557			Acta medica Scandinavica. 1986 ;219(3):291-4	Lack of association between hemochromatosis and alpha-antitrypsin deficiency.		107400	4982	1	1986												
134096	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Hayes VM 2003	14551891				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Africa South of the Sahara	KGB	5265	Hs.525557			The Journal of infectious diseases. 2003 Oct;188(8):1205-8	Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease?		107400	4983	1	2003	A significant association between HIV-1 infection and the presence of an allelic variant was observed in the case of the M2 and A332A haplotypes, thus presenting AAT as a potentially novel HIV-1 susceptibility locus.	Cohort 2 African-based populations from HIV-pandemic sub-Saharan Africa sub-Saharan Africa										
134090	Y	Serum alpha 1-antitrypsin deficiency	OTHER	OTH	alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Curiel DT et al. 1989	2567291				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			The Journal of biological chemistry. 1989 Jun;264(18):10477-86	Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.		107400	4977	1	1989												
134091	Y	chronic obstructive airways disease.	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA1	93914450	93926782		Morgan K et al. 1992	1349285				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			European journal of clinical investigation. 1992 Feb;22(2):134-7	The characterization of a mutation of the 3' flanking sequence of the alpha 1-antitrypsin gene commonly associated with chronic obstructive airways disease.		107400	4978	1	1992												
134093	N	Atopic asthma. BHR. total IgE. SPT	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA1	93914450	93926782	n	Malerba G 2001	11295654	Glu264Val (S)			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Italian		KCB	5265	Hs.525557			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8			107400	4980	1	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.											
134086		COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA1	93914450	93926782		Benetazzo MG 1999	10542979				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Italy	KGB	5265	Hs.525557			Respiratory medicine. 1999 Sep;93(9):648-54			107400	4973	1	1999	We conclude that  alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.											
134088	Y	alpha 1-antitrypsin deficiency	OTHER	OTH	alpha 1-Antitrypsin Deficiency|Emphysema	14	14q32.1	SERPINA1	93914450	93926782		Curiel DT et al. 1990	1967187				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Molecular and cellular biology. 1990 Jan;10(1):47-56	Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele.		107400	4975	1	1990												
134089	Y	alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z	OTHER	OTH	alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Jaiswal AK et al. 1985	2989709				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Nature. 1985 Jul;316(6023):79-81	DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.		107400	4976	1	1985												
134082	N	Atopic asthma. BHR. total IgE. SPT	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA1	93914450	93926782	n	Malerba G 2001	11295654	Glu342Lys (Z)			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Italian		KCB	5265	Hs.525557			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8			107400	4969	1	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.											
134083		COPD	OTHER	OTH	Lung Diseases, Obstructive|alpha 1-Antitrypsin Deficiency|Disease Susceptibility	14	14q32.1	SERPINA1	93914450	93926782		Kalsheker NA 1990	1980238				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Disease markers. 1990 May-Jun;8(3):151-7			107400	4970	1	1990												
134085		Asthma	IMMUNE	IMM	Asthma	14	14q32.1	SERPINA1	93914450	93926782		Colp 1993	8449073	MS. MZ			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Puerto Rico|New York City	KCB	5265	Hs.525557			Chest. 1993 Mar;103(3):812-5			107400	4972	1	1993												
134079		COPD	OTHER	OTH	Lung Diseases, Obstructive	14	14q32.1	SERPINA1	93914450	93926782		Benetazzo MG 1999	10542979				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Italy	KGB	5265	Hs.525557			Respiratory medicine. 1999 Sep;93(9):648-54			107400	4966	1	1999	We conclude that  alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients. The alpha 1-antichymotrypsin rare variants were not detected: our results do not exclude the possibility that other alpha 1-antichymotrypsin gene mutations might be present in Italian obstructed patients but, if so, these genetic defects must be rare.											
134080	N	Asthma	IMMUNE	IMM	Asthma	14	14q32.1	SERPINA1	93914450	93926782	n	Gaillard 1997	9377805	alpha-1 PI			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		South Africa	KCB	5265	Hs.525557			Clinical genetics. 1997 Sep;52(3):162-6			107400	4967	1	1997												
134081	N	Asthma	IMMUNE	IMM	Asthma	14	14q32.1	SERPINA1	93914450	93926782	n	Green 1997	9377805	alpha-1 PI			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		South Africa	KCB	5265	Hs.525557			Clinical genetics. 1997 Sep;52(3):162-6			107400	4968	1													
134074		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p21.3	SEMA3B	50280043	50289576		Marsit, C. J.  et al. 2005	15831529	T415I			Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004636.2	African American	United States	CDC GDPinfo	7869	Hs.82222			Carcinogenesis. 2005 Aug;26(8):1446-9	The race associated allele of Semaphorin 3B (SEMA3B) T415I and its role in lung cancer in African-Americans and Latino-Americans.		601281	13592	2	2005	This study points to the need for further examination of this gene and its variant in lung cancer and other diseases.	Control controls for these cases;Case lung cancer cases in African-American and Latino-American populations and head and neck cancer cases in a Caucasian population										
134075	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	2	2p13.1	SEMA4F	74734900	74762693	n	Francks C et al. 2002	11901358				Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004263.2			KGB	10505	Hs.25887			Psychiatric genetics. 2002 Mar;12(1):35-41	Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.		603706	6664	1	2002												
134076	Y	SECIS function	OTHER	OTH	Neoplasms	5	5q31	SEPP1	42835738	42861755		Hu, Y. J.  et al. 2001	11280803				Selenoprotein P, plasma, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005410.2			CDC GDPinfo	6414	Hs.275775			Cancer research. 2001 Mar;61(5):2307-10	Distribution and functional consequences of nucleotide polymorphisms in the 3'-untranslated region of the human Sep15 gene		601484	13593	2	2001	This, together with genetic data indicating loss of heterozygosity at the Sep15 locus in certain human tumor types, suggests that Sep15 may be involved in cancer development, risk, or both.	Cohort not described in abstract 										
134070		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q24	SELPLG	107539808	107551799		Scalabrini, D.  et al. 2005	16039046				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			Neuroscience letters. 2005 Nov;388(3):149-52	P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis.		600738	13590	2	2005												
134071	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12q24	SELPLG	107539808	107551799		Bugert, P.  et al. 2004	15497463				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			Clinical chemistry and laboratory medicine. 2004 ;42(9):997-1004	Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease		600738	23370	2	2004	The molecular characterization of P-selectin and PSGL-1 in a case-control study including CHD patients and healthy controls revealed evidence for association of the genes with development of the disease. However, the functional role of the gene variants should be elucidated by further experimental data.	Control:controls;Case coronary heart disease patients										
134072		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q24	SELPLG	107539808	107551799		Fenoglio, C.  et al. 2005	16257118				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			Neuroscience letters. 2006 Feb;394(2):92-6	SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis.		600738	23371	2	2005												
134073		heart disease, ischemic; peripheral arterial disease	CARDIOVASCULAR	CARD		12	12q24	SELPLG	107539808	107551799		Hancer, V. S.  et al. 2005	15386532				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3	Turkish		CDC GDPinfo	6404	Hs.591014			Cell biochemistry and function. 2005 Jan-Feb;23(1):55-8	Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci.		600738	25513	2	2005												
134067	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	12	12q24	SELPLG	107539808	107551799		Bugert, P.  et al. 2003	12879153				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			Journal of molecular medicine (Berlin, Germany). 2003 Aug;81(8):495-501	The variable number of tandem repeat polymorphism in the P-selectin glycoprotein ligand-1 gene is not associated with coronary heart disease.		600738	13586	2	2003	These results demonstrate that the PSGL-1 VNTR polymorphism is not a genetic risk factor for CHD. Adequately powered studies are prerequisites to obtain reliable results about genotype-phenotype relationships of new candidate genes in complex diseases.	Case:2,578 coronary heart disease patients;Case:281 coronary heart disease patients;Control:397 healthy blood donors;Control:731/1084 patients without coronary heart disease (n=731) and healthy blood donors (n=1084)										
134068	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12q24	SELPLG	107539808	107551799		Tregouet, D. A.  et al. 2003	14641238				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			Annals of human genetics. 2003 Nov;67(Pt 6):504-11	SELPLG gene polymorphisms in relation to plasma SELPLG levels and coronary artery disease.		600738	13587	2	2003	Haplotype analysis revealed that two polymorphisms of SELPLG, the M62I and the VNTR, independently influenced plasma SELPLG levels. Conversely, haplotypes of SELPLG were not associated with CAD risk.	Case coronary artery disease cases;Control:controls										
134069		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12q24	SELPLG	107539808	107551799		Roldan, V.  et al. 2004	15459589				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			American heart journal. 2004 Oct;148(4):602-5	Short alleles of P-selectin glycoprotein ligand-1 protect against premature myocardial infarction.		600738	13588	2	2004	 We found an interesting association between a functional polymorphism and the risk of MI at a younger age. According to our results, the short B and C PSGL-1 alleles might protect against premature MI, probably because of their lesser adhesive capacity.	Case:219 Caucasian patients who had suffered a premature myocardial infarction (MI) (aged < or =45 years);Control:594 control subjects										
134064		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	1	1q22-q25	SELP	167824711	167866031		McCarthy, J. J.  et al. 2003	14557872				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		173610	28255	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
134066	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Ischemia|Venous Thrombosis	12	12q24	SELPLG	107539808	107551799		Lozano, M. L.  et al. 2001	11843835				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDPinfo	6404	Hs.591014			British journal of haematology. 2001 Dec;115(4):969-76	Polymorphisms of P-selectin glycoprotein ligand-1 are associated with neutrophil-platelet adhesion and with ischaemic cerebrovascular disease.		600738	13585	2	2001	In conclusion, polymorphisms of the PSGL-1 receptor may influence the neutrophil-platelet binding, and represent a risk factor for CVD.	Case:101 coronary heart disease patients;Case:104 cerebrovascular patients;Case:150 deep venous thrombosis patitnes;Control:469 individuals from general population south of Spain										
134061		albuminuria	HEMATOLOGICAL	HEM	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Liu, Y.  et al. 2005	16014051				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2		North Carolina	CDC GDPinfo	6403	Hs.73800			Kidney international. 2005 Aug;68(2):741-6	P-selectin gene haplotype associations with albuminuria in the Diabetes Heart Study.		173610	19356	2	2005	 The 290Asn (S290N) variant of P-selectin was associated with a higher prevalence and greater degree of albuminuria in European American siblings of type 2 diabetic families.											
134062		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	1	1q22-q25	SELP	167824711	167866031		Rosner, S. A.  et al. 2005	16184405				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		173610	27610	2	2005			smoking (tobacco)									
134063		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	1	1q22-q25	SELP	167824711	167866031		Shields, D. C.  et al. 2002	12082590				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		173610	28107	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
134058	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q22-q25	SELP	167824711	167866031		Bugert, P.  et al. 2004	15497463				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Clinical chemistry and laboratory medicine. 2004 ;42(9):997-1004	Polymorphisms in the P-selectin (CD62P) and P-selectin glycoprotein ligand-1 (PSGL-1) genes and coronary heart disease		173610	13589	2	2004	The molecular characterization of P-selectin and PSGL-1 in a case-control study including CHD patients and healthy controls revealed evidence for association of the genes with development of the disease. However, the functional role of the gene variants should be elucidated by further experimental data.	Control:controls;Case coronary heart disease patients										
134059		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q22-q25	SELP	167824711	167866031		Fenoglio, C.  et al. 2005	16257118				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Neuroscience letters. 2006 Feb;394(2):92-6	SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis.		173610	13591	2	2005												
134060	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Tregouet, D. A.  et al. 2002	12165563				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Human molecular genetics. 2002 Aug;11(17):2015-23	Specific haplotypes of the P-selectin gene are associated with myocardial infarction.		173610	19355	2	2002	Detailed haplotype analysis confirmed the protective effect of the P715 allele but additionally revealed that the presence of two asparagine codons at sites S290N and N562D was associated with a higher risk of MI, consistenly in France and Northern Ireland, but only when they were carried by the same haplotype. This finding illustrates the complexity of the relationship between gene variability and disease and the necessity to explore in detail the polymorphisms of candidate genes.	Case:582 cases of myocardial infarction from the Etude Cas-Temoin sur l'Infarctus du Myocarde;Control:630 controls from the Etude Cas-Temoin sur l'Infarctus du Myocarde										
134055	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Myocardial Infarction	1	1q22-q25	SELP	167824711	167866031		Carter, A. M.  et al. 2003	12911583				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Journal of thrombosis and haemostasis. 2003 Aug;1(8):1718-23	Soluble P-selectin levels, P-selectin polymorphisms and cardiovascular disease.		173610	13582	2	2003	There was no significant association of genotype at any of the polymorphism in relation to MI or stenosis. The Thr715Pro polymorphisms is associated with plasma sP-selectin. This association is modulated by smoking, although the underlying mechanism remains unclear.	Case:249 patients with coronary artery disease characterized by >/=50% stenosis in one or more coronary arteries;Control:252 healthy controls										
134056	Y	P-selectin	UNKNOWN	UNK		1	1q22-q25	SELP	167824711	167866031		Miller, M. A.  et al. 2004	15543334	Thr715Pro			Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Thrombosis and haemostasis. 2004 Nov;92(5):1060-5	Association between the Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in a multiethnic population in South London.		173610	13583	2	2004	In conclusion, in whites and South Asians the C allele of the Thr715Pro P-selectin polymorphism is associated with lower sP-selectin levels. Lower levels of sP-selectin were not accounted for by this polymorphism in blacks, in whom the C allele was very rare.	Cohort 237/177/201 white (n=237,106 females), black African origin (n=177, 92 females) and South Asian (n=201, 94 females) individuals England 										
134057		atherosclerosis, coronary; stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Artery Disease|Disease Progression	1	1q22-q25	SELP	167824711	167866031		Volcik, K. A.  et al. 2005	16125711	Thr715Pro			Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Atherosclerosis. 2005	P-selectin Thr715Pro polymorphism predicts P-selectin levels but not risk of incident coronary heart disease or ischemic stroke in a cohort of 14595 participants: The Atherosclerosis Risk InCommunities Study.		173610	13584	2	2005	 Genotypes carrying the P-selectin Pro715 variant allele are associated with decreased P-selectin levels compared to the homozygous wild-type genotype in whites. The P-selectin Thr715Pro polymorphism is not associated with incident CHD or ischemic stroke in either whites or African-Americans.											
134052	Y	atopy-susceptibility	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Bourgain C 2003	12929084		Val640Leu	coding sequence	Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2	Hutterite		KGB	6403	Hs.73800			American journal of human genetics. 2003 Sep;73(3):612-26	Novel case-control test in a founder population identifies P-selectin as an atopy-susceptibility locus.		173610	5380	1	2003		Case:269; Control:323										
134053		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q22-q25	SELP	167824711	167866031		Kee, F.  et al. 2000	11040019				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Heart (British Cardiac Society). 2000 Nov;84(5):548-52	Polymorphisms of the P-selectin gene and risk of myocardial infarction in men and women in the ECTIM extension study. Etude cas-temoin de l'infarctus myocarde.		173610	13580	2	2000	 In a large population based study in two regions of the UK, we have been able to corroborate the earlier ECTIM findings of a lower frequency of the Thr/Pro(715) polymorphism in subjects with myocardial infarction. An apparently protective effect of similar magnitude also seems to apply to women.	Control:561 age matched controls;Case:696 cases with a recent myocardial infarction Belfast and Glasgow										
134054	Y	coronary artery disease; P-selectin	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q22-q25	SELP	167824711	167866031		Barbaux, S. C.  et al. 2001	11597943				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			Arteriosclerosis, thrombosis, and vascular biology. 2001 Oct;21(10):1668-73	Association between P-selectin gene polymorphisms and soluble P-selectin levels and their relation to coronary artery disease.		173610	13581	2	2001	In conclusion, this study revealed a strong association between P-selectin gene polymorphisms and serum P-selectin levels and a complex age-dependent relation between soluble P-selectin levels and coronary artery disease, which suggests that this molecule might have different roles in the atherothrombotic process.	Control:334 healthy controls;Case:869 patients with documented coronary artery disease										
134049		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q23-q25	SELL	167926431	167947461		Adams, G. T.  et al. 2003	12871600				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDPinfo	6402	Hs.82848			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		153240	28473	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
134050	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q22-q25	SELP	167824711	167866031		Barbaux SC et al. 2001	11597943				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			KGB	6403	Hs.73800			Arteriosclerosis, thrombosis, and vascular biology. 2001 Oct;21(10):1668-73	Association between P-selectin gene polymorphisms and soluble P-selectin levels and their relation to coronary artery disease.		173610	5378	1	2001	In conclusion, this study revealed a strong association between P-selectin gene polymorphisms and serum P-selectin levels and a complex age-dependent relation between soluble P-selectin levels and coronary artery disease, which suggests that this molecule might have different roles in the atherothrombotic process.	Control:334 healthy controls;Case:869 patients with documented coronary artery disease										
134051	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Tregouet DA et al. 2002	12165563				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			KGB	6403	Hs.73800			Human molecular genetics. 2002 Aug;11(17):2015-23	Specific haplotypes of the P-selectin gene are associated with myocardial infarction.		173610	5379	1	2002	Detailed haplotype analysis confirmed the protective effect of the P715 allele but additionally revealed that the presence of two asparagine codons at sites S290N and N562D was associated with a higher risk of MI, consistenly in France and Northern Ireland, but only when they were carried by the same haplotype. This finding illustrates the complexity of the relationship between gene variability and disease and the necessity to explore in detail the polymorphisms of candidate genes.	Case:582 cases of myocardial infarction from the Etude Cas-Temoin sur l'Infarctus du Myocarde;Control:630 controls from the Etude Cas-Temoin sur l'Infarctus du Myocarde										
134045		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q23-q25	SELL	167926431	167947461			16357481	Phe206Leu			Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDPinfo	6402	Hs.82848			Cardiology. 2006 ;105(2):113-8	Association of the Phe206Leu Allele of the L-Selectin Gene with Coronary Artery Disease		153240	13579	2	2005												
134046		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q23-q25	SELL	167926431	167947461		Kretowski, A.  et al. 2000	11064106				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDPinfo	6402	Hs.82848			Immunology letters. 2000 Nov;74(3):225-8	L-selectin gene T668C mutation in type 1 diabetes patients and their first degree relatives.		153240	23368	2	2000	the T668C L-selectin gene mutation could have a (protective?) role in the development of IDDM, but further studies concerning their role in type 1 diabetes are needed.	Case type 1 diabetes patients;Control healthy controlsn and unaffected siblins of IDDM:subjects										
134048		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	1	1q23-q25	SELL	167926431	167947461		Helbig, K. J.  et al. 2003	12595908				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDPinfo	6402	Hs.82848			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		153240	28361	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
134042		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Adams, G. T.  et al. 2003	12871600				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		131210	28453	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
134043		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	1	1q22-q25	SELE	167958405	167969803		Zee, R. Y.  et al. 2002	12082592				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		131210	28668	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
134044	Y	diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetes Mellitus, Type 2	1	1q23-q25	SELL	167926431	167947461		Kamiuchi K 2002	12200076				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			Y Wang	6402	Hs.82848	Complications		Journal of diabetes and its complications. 2002 Sep-Oct;16(5):333-7	Leukocyte-endothelial cell adhesion molecule 1 (LECAM-1) polymorphism is associated with diabetic nephropathy in type 2 diabetes mellitus.		153240	5377	1	2002	 The data suggest that the LECAM-1 213PP genotype is a genetic risk factor for the development of nephropathy in type 2 diabetes mellitus.											
134039		lipid metabolism	METABOLIC	MET		1	1q22-q25	SELE	167958405	167969803		Pallaud, C.  et al. 2001	11714857				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		131210	28314	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
134040		blood pressure, arterial	CARDIOVASCULAR	CARD		1	1q22-q25	SELE	167958405	167969803		Sass, C.  et al. 2004	15076187				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		131210	28360	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
134041		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	1	1q22-q25	SELE	167958405	167969803		Pallaud, C.  et al. 2001	11341749				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		France|Italy	CDC GDPinfo	6401	Hs.89546			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		131210	28424	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
134036		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q22-q25	SELE	167958405	167969803		Pallaud, C.  et al. 2001	11575217				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	French		CDC GDPinfo	6401	Hs.89546			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		131210	28106	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
134037		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	1	1q22-q25	SELE	167958405	167969803		McCarthy, J. J.  et al. 2003	14557872				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		131210	28189	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
134038		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	1	1q22-q25	SELE	167958405	167969803		Helbig, K. J.  et al. 2003	12595908				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		131210	28313	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
134033		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1q22-q25	SELE	167958405	167969803		Flex, A.  et al. 2004	15308783				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		131210	27830	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
134034		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	1	1q22-q25	SELE	167958405	167969803		Shields, D. C.  et al. 2002	12082590				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		131210	27988	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
134035		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q22-q25	SELE	167958405	167969803		Pallaud, C.  et al. 2001	11359462				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		131210	28105	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
134030		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q22-q25	SELE	167958405	167969803		Hohda, S.  et al. 2003	14587643				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Japanese		CDC GDPinfo	6401	Hs.89546			Japanese heart journal. 2003 Sep;44(5):613-22	Association study of CD14 polymorphism with myocardial infarction in a Japanese population.		131210	23367	2	2003	The frequencies of the T/T homozygotes were significantly higher in the patients (OR = 1.41, P = 0.013) than in the control group, confirming the association of CD14 polymorphism with MI in Japanese. Stratification analyses further demonstrated that the association was more prominent in females and in patients with a relatively low body mass index, suggesting that the contribution of the CD14-linked genetic risk to MI differs with respect to gender and habitual background.	Case:502 patients with myocardial infarction;Control:527:controls										
134031		retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Hypercholesterolemia	1	1q22-q25	SELE	167958405	167969803		Kamiuchi, K.  et al. 2002	12027924				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Diabetic medicine. 2002 May;19(5):371-6	Intercellular adhesion molecule-1 (ICAM-1) polymorphism is associated with diabetic retinopathy in Type 2 diabetes mellitus.		131210	25512	2	2002	 These data suggest that the ICAM-1 469KK genotype could be a genetic risk factor for retinopathy in Type 2 diabetes mellitus.	Control:50 diabetic patients without nephropathy;Case:81 diabetic patients with nephropathy										
134032		malaria	INFECTION	INF	Malaria, Falciparum	1	1q22-q25	SELE	167958405	167969803		Amodu, O. K.  et al. 2005	16002039				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Nigeria	CDC GDPinfo	6401	Hs.89546			Acta tropica. 2005 Sep;95(3):248-55	Plasmodium falciparum malaria in south-west Nigerian children: is the polymorphism of ICAM-1and E-selectin genes contributing to the clinical severity of malaria?		131210	26551	2	2005												
134027		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis|Ischemia|Inflammation	1	1q22-q25	SELE	167958405	167969803		Mlekusch, W.  et al. 2004	14691583				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Thrombosis and haemostasis. 2004 Jan;91(1):171-9	E-Selectin and restenosis after femoropopliteal angioplasty: prognostic impact of the Ser128Arggenotype and plasma levels.		131210	19350	2	2004	E-Selectin plasma levels are modulated by the E-Selectin Ser128Arg genotype, and predict the risk for restenosis after PTA in patients with PAD. A direct association of the Ser128Arg polymorphism with late postangioplasty failure could not be demonstrated.	Cohort 175 consecutive patients with peripheral artery disease and intermittent claudication (n=126) or critical limb ischemia (n=49) who underwent primary successful femoropopliteal balloon angioplasty 										
134028	N	diabetes, type 2; insulin; hemoglobin A(1c)	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Meigs, J. B.  et al. 2005	15833936				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Obesity research. 2005 Mar;13(3):513-8	E-selectin genotypes and risk of type 2 diabetes in women.		131210	19351	2	2005	We conclude that  the E-selectin variants we examined are not important genetic risk factors for type 2 diabetes in women.	Case:602 incident (over 10 years of follow-up) type 2 diabetes cases;Control:655 control women matched for age, race and fasting:status:Cohort:719 nondiabetic participants of the Nurses' Health:Study										
134029		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Li, Y.  et al. 2005	16061120				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		China	CDC GDPinfo	6401	Hs.89546			International journal of cardiology. 2005 Aug;103(1):33-6	Association between the Ser128Arg variant of the E-selectin and risk of coronary artery disease in the central China.		131210	19352	2	2005	 These results suggest that the SR genotype of the E-selectin gene polymorphism in codon 128 is a genetic factor that may determine an individual's susceptibility for CAD in Chinese.											
134024		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; hypertension; glucose	METABOLIC	MET		1	1q22-q25	SELE	167958405	167969803		Chen, H. L.  et al. 2005	16080806	A561C (S128R)			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):603-7	[Effect of E-selectin A561C (S128R) polymorphism on blood pressure]		131210	13577	2	2005	 The E-selectin A561C (S128R) polymorphism might affect blood pressure in Chinese.											
134025		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Takei, T.  et al. 2002	11828340				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Japan	CDC GDPinfo	6401	Hs.89546			American journal of human genetics. 2002 Mar;70(3):781-6	Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.		131210	13578	2	2002	Our results suggest that these eight SNPs in selectin genes may be useful for screening populations susceptible to the IgAN phenotype that involves interstitial infiltration.	Case Japanese immunoglobulin A nephropathy patients;Control not specified in abstract										
134026		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q22-q25	SELE	167958405	167969803		Visvikis, S.  et al. 2000	11097335				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		France	CDC GDPinfo	6401	Hs.89546			Clinical chemistry and laboratory medicine. 2000 Sep;38(9):827-32	Familial studies on the genetics of cardiovascular diseases: the Stanislas cohort		131210	19349	2	2000	Associations between CIMT and polymorphisms in apo CIII, cholesteryl ester transfer protein, methylene tetrahydrofolate reductase, and fibrinogen genes were observed and explained about 20% of CIMT variability in men. Furthermore, as another example of association studies, we investigated the relations between E-selectin polymorphisms and blood pressure interindividual variability and longitudinal changes in unrelated adults of this familial population. The E-selectin Phe554 allele was found associated with lower systolic blood pressure and diastolic blood pressure.	Cohort a large familial cohort composed of 1006 families, which will be followed for 10 year 										
134021		autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM		1	1q22-q25	SELE	167958405	167969803		Wei, Y.  et al. 2004	15584003				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Chinese		CDC GDPinfo	6401	Hs.89546			Zhonghua yi xue yi chuan xue za zhi. 2004 Dec;21(6):643-5	[Distribution of E-selectin gene polymorphism in the Zhuangs and Hans of Guangxi province in China.]		131210	13574	2	2004	 There was significant difference in the E-selectin S128R polymorphism between Zhuangs and Hans. There was no significant difference in the E-selectin G98T polymorphism between Zhuangs and Hans.	Cohort 162/170 healthy Zhuangs (n=162) and Hans (n=170) 										
134022		soluble e-selectin levels	NORMALVARIATION	NV	Coronary Disease	1	1q22-q25	SELE	167958405	167969803		Miller, M. A.  et al. 2005	15871853	Ser128Arg			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		England	CDC GDPinfo	6401	Hs.89546			Nutrition, metabolism, and cardiovascular diseases. 2005 Feb;15(1):65-70	Circulating soluble E-selectin levels and the Ser128Arg polymorphism in individuals from different ethnic groups		131210	13575	2	2005	 We found a lower frequency of this polymorphism in the people of African origin who have a low CHD risk. However, in this study the polymorphism was not associated with circulating sE-selectin levels. Whether it plays a role in determining ethnic differences in vascular disease via a mechanism affecting leukocyte recruitment remains to be determined.	Cohort 244/176/208 white (n=244, 109 females), African origin (n=176, 90 females) and South Asian (n=208, 95 females) healthy individuals living in England selected from the Wandsworth Heart and Stroke Study 										
134023		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Galimberti, D.  et al. 2005	15979159	A561C and G98T			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of neuroimmunology. 2005 Aug;165(2-Jan):201-5	E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis.		131210	13576	2	2005												
134018	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Obesity	1	1q22-q25	SELE	167958405	167969803		Marteau, J. B.  et al. 2004	15076188	Leu554Phe			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of hypertension. 2004 Feb;22(2):305-11	The Leu554Phe polymorphism in the E-selectin gene is associated with blood pressure in overweight people		131210	13571	2	2004	 These results suggest a BMI-specific effect of L/F554 polymorphism of the E-selectin gene on blood pressure, and strengthen the hypothesis that E-selectin is implicated in hypertension.	Cohort 478/546 men (n=478) and women (n=546) selected from the Stanislas cohort France 										
134019	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Erythema Nodosum|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Amoli, M. M.  et al. 2004	15083893				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Spain	CDC GDPinfo	6401	Hs.89546			Clinical and experimental rheumatology. 2004 Mar-Apr;22(2):230-2	E-selectin polymorphism in erythema nodosum secondary to sarcoidosis		131210	13572	2	2004	 The present study constitutes the first attempt to assess the influence of E-selectin polymorphism at position +561 in the development of sarcoidosis. The C allele at the +561 position of the E-selectin gene is associated with significantly reduced risk of developing sarcoidosis in patients with EN.	Case:31/68 patients with biopsy-proven erythema nodosum with sarcoidosis (n=31) and related to other etiologies:(n=68) Lugo region of Northwest Spain;Control:66 healthy matched controls										
134020		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	1	1q22-q25	SELE	167958405	167969803		Ghilardi, G.  et al. 2004	15179350	Ser128Arg			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			The Journal of cardiovascular surgery. 2004 Apr;45(2):143-7	Ser128Arg gene polymorphism for E-selectin and severity of atherosclerotic arterial disease.		131210	13573	2	2004	 Our study suggests that the E-selectin polymorphism may be associated with severity of atherosclerotic disease, but does not allow us to conclude that it is actually a risk factor for atherosclerosis.	Control:138:volunteers;Case:144 subjects (100 men and 44 women, mean age 72 years, range 48-78) with atherosclerotic disease in different vascular sites										
134015	Y	diabetes, type 2; nephropathy, diabetic	UNKNOWN	UNK	Diabetic Neuropathies|Diabetes Mellitus, Type 2	1	1q22-q25	SELE	167958405	167969803		Kamiuchi, K.  et al. 2002	12200076				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of diabetes and its complications. 2002 Sep-Oct;16(5):333-7	Leukocyte-endothelial cell adhesion molecule 1 (LECAM-1) polymorphism is associated with diabetic nephropathy in type 2 diabetes mellitus.		131210	13568	2	2002	 The data suggest that the LECAM-1 213PP genotype is a genetic risk factor for the development of nephropathy in type 2 diabetes mellitus.	Case:102 diabetic patients with diabetic nephropathy;Control:90/200 diabetic patients with no evidence of diabetic nephropathy (n=90) and healthy control individuals:(n=200)										
134016	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q22-q25	SELE	167958405	167969803		Yoshida, M.  et al. 2003	12649084				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Japan	CDC GDPinfo	6401	Hs.89546			Arteriosclerosis, thrombosis, and vascular biology. 2003 May;23(5):783-8	E-selectin polymorphism associated with myocardial infarction causes enhanced leukocyte-endothelial interactions under flow conditions.		131210	13569	2	2003	 Our results suggest that the E-selectin Ser128Arg polymorphism can functionally alter leukocyte-endothelial interactions as well as biochemical and biological consequences, which may account for the pathogenesis of myocardial infarction.	Case:135 Japanese patients with myocardial infarction;Control:327:controls										
134017	N	atherosclerosis, coronary; diabetes, type 2	METABOLIC	MET	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Endler, G.  et al. 2003	15013273	S128R			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Austria	CDC GDPinfo	6401	Hs.89546			Thrombosis research. 2003 ;112(2-Jan):47-50	The E-selectin S128R polymorphism is not a risk factor for coronary artery disease in patients with diabetes mellitus type 2.		131210	13570	2	2003	In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. Thus, screening for this polymorphism is not indicated for risk assessment of CAD in patients with diabetes mellitus.	Cohort 254 patients recruited from the Division of Cardiology, University of Vienna Austria 										
134013	Y	restenosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis|Myocardial Infarction	1	1q22-q25	SELE	167958405	167969803		Rauchhaus, M.  et al. 2002	12036529	SER128ARG			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			International journal of cardiology. 2002 Jun;83(3):249-57	The E-selectin SER128ARG gene polymorphism and restenosis after successful coronary angioplasty.		131210	13566	2	2002	 The 128Arg allele of E-selectin may be related to increased endothelial responses to injury, thereby potentially serving as a risk factor for post-angioplasty restenosis in patients with CAD.The development of restenosis remains a problem in patients with CAD. The Ser128Arg polymorphism of E-selectin was analyzed in 101 (derivation) and 92 (validation) CAD patients. Patients with restenosis (54/101 and 43/92) had a higher frequency of the 128Arg allele (14.81 and 17.44%) than those without (5.32%, p=0.027 and 7.14%, p=0.031). In logistic regression, the 128Arg allele emerged as a predictor of restenosis in both studies (p<0.05). The E-selectin 128Arg allele may serve as a risk factor for the development of restenosis.	Cohort 101/92 derivation study, age 541 years, all meanS.E.M.(n=101) and validation study, age 621 years (n=92) patients with CAD who underwent successful angioplasty 										
134014	N	giant cell arteritis; purpura, Henoch-Schonlein; hypersensitivity vasculitis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Purpura, Schoenlein-henoch|Vasculitis|Vasculitis, Hypersensitivity|Giant Cell Arteritis|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Amoli, M. M.  et al. 2002	12175121	A561C			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Spanish	Spain	CDC GDPinfo	6401	Hs.89546			Clinical and experimental rheumatology. 2002 Jul-Aug;20(4):575-6	Lack of association between A561C E-selectin polymorphism and large and small-sized blood vessel vasculitides.		131210	13567	2	2002	In summary, although E-selectin polymorphisms may act as genetic risk factors for the development some inflammatory diseases, this does not appear to be the case in Northwest Spanish patients with vasculitis.	Case:176 Caucasian patients diagnosed with vasculitides:Lugo, Spain;Control:66 ethnically matched controls										
134009	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1q22-q25	SELE	167958405	167969803		Zheng, F.  et al. 2001	11168027				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Clinical genetics. 2001 Jan;59(1):58-64	An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease		131210	13562	2	2001	After controlling for other CAD risk factors (plasma total cholesterol, triglyceride, LDL-apolipoprotein B, cigarette smoking and the S128R mutation) by multiple logistic analysis, the G98T mutation in the E-selectin gene was still a significant predictor of premature CAD [p=0.022, odds ratio (95%, CI)=3.58 (1.20-10.67)].	Control:50 patients without premature CAD;Case:51 patients with premature CAD	smoking (tobacco)									
134010	Y	coronary calcification	CARDIOVASCULAR	CARD	Cardiomyopathies|Calcinosis	1	1q22-q25	SELE	167958405	167969803		Ellsworth, D. L.  et al. 2001	11466561	S128R			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDPinfo	6401	Hs.89546			Journal of molecular medicine (Berlin, Germany). 2001 Jul;79(7):390-8	Gender- and age-dependent relationships between the E-selectin S128R polymorphism and coronary artery calcification.		131210	13563	2	2001	The significant association between E-selectin and CAC in women 50 years of age or younger may suggest that the 128R allele is a risk factor for coronary atherosclerosis in younger asymptomatic women, who typically have lower levels of traditional risk factors and reduced adhesion molecule expression due to the presence of higher levels of endogenous hormones.	Cohort 294/314 asymptomatic women aged 40--88 years (n=294) and asymptomatic men aged 30--80 years (n=314) from the Epidemiology of Coronary Artery Calcification Study 										
134011	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1q22-q25	SELE	167958405	167969803		Sass, C.  et al. 2001	11575218	Leu554Phe			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	French		CDC GDPinfo	6401	Hs.89546			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):855-8	Article in French-Association between E-selectin Leu554Phe polymorphism and blood pressure in the Stanislas cohort		131210	13564	2	2001	Our results suggest an age-specific effect of the SELE L/F554 polymorphism on blood pressure levels. If confirmed in other studies, these findings would suggest that assessment of common variation in an adhesion molecule could be useful in predicting blood pressure.	Cohort 696 individuals selected from families that had already visited the CMP 11 years before the recruitment of the Stanislas Cohort (359 men and 337 women) 1993-1994 										
134006	N	diabetes, type 2	METABOLIC	MET	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Endler G 2003	15013273	S128R			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Austria	Y Wang	6401	Hs.89546	coronary artery disease		Thrombosis research. 2003 ;112(2-Jan):47-50	The E-selectin S128R polymorphism is not a risk factor for coronary artery disease in patients with diabetes mellitus type 2.		131210	5374	1	2003	In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. Thus, screening for this polymorphism is not indicated for risk assessment of CAD in patients with diabetes mellitus.	Cohort 254 patients recruited from the Division of Cardiology, University of Vienna Austria										
134007	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1q22-q25	SELE	167958405	167969803		Sass C et al. 2001	11575218	Leu554Phe			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			KGB	6401	Hs.89546			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):855-8	Association between E-selectin Leu554Phe polymorphism and blood pressure in the Stanislas cohort trans Association entre le polymorphisme Leu554Phe de la E-selectine et la pression arterielle au sein de la cohorte Stanislas.		131210	5375	1	2001	Our results suggest an age-specific effect of the SELE L/F554 polymorphism on blood pressure levels. If confirmed in other studies, these findings would suggest that assessment of common variation in an adhesion molecule could be useful in predicting blood pressure.	Cohort 696 individuals selected from families that had already visited the CMP 11 years before the recruitment of the Stanislas Cohort (359 men and 337 women) 1993-1994										
134008	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		El-Magadmi M et al. 2001	11764211	A561C			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Turkey|Great Britain|Spain	KGB	6401	Hs.89546			The Journal of rheumatology. 2001 Dec;28(12):2650-2	Association of the A561C E-selectin polymorphism with systemic lupus erythematosus in 2 independent populations.		131210	5376	1	2001	 In 2 of 3 populations studied, the E-selectin C allele was significantly more common in SLE than in controls. E-selectin may be a susceptibility gene to SLE in these populations. Its role in disease expression and longterm outcomes such as accelerated atherosclerosis requires further study.	Case 3 cohorts of SLE patients of Caucasians of British Isles descent, Caucasians of Spanish origin, and Caucasians of Turkish origin;Control matching population controls										
134003	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	14	14q24.3-q31	SEL1L	81007645	81069886		Pociot, F.  et al. 2001	11544613				Sel-1 suppressor of lin-12-like (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005065.3		Italy|Denmark	CDC GDPinfo	6400	Hs.181300			Diabetes. 2001 Jul-Aug;17(4):292-5	No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility.		602329	19348	2	2001	 Although several lines of evidence suggest that SEL1L might be a candidate for IDDM11-conferred susceptibility to T1DM the present study does not support this hypothesis.	152 type 1 diatbetic-affected sib-pair families Denmark 240 families (229 simplex and 11 sib-pair families) Sardinia 										
134004	Y	premature coronary artery disease.	CARDIOVASCULAR	CARD	Coronary Disease	1	1q22-q25	SELE	167958405	167969803		Zheng F et al. 2001	11168027				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			KGB	6401	Hs.89546			Clinical genetics. 2001 Jan;59(1):58-64	An HphI polymorphism in the E-selectin gene is associated with premature coronary artery disease.		131210	5372	1	2001	After controlling for other CAD risk factors (plasma total cholesterol, triglyceride, LDL-apolipoprotein B, cigarette smoking and the S128R mutation) by multiple logistic analysis, the G98T mutation in the E-selectin gene was still a significant predictor of premature CAD [p=0.022, odds ratio (95%, CI)=3.58 (1.20-10.67)].	Control:50 patients without premature CAD;Case:51 patients with premature CAD	smoking (tobacco)									
134005	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803	n	Hirashiki A 2003	14563588	561A3C (Ser128Arg)			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Japanese	Japan	KGB	6401	Hs.89546			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		131210	5373	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
134000	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q31	EXOC4	132588362	133401053		Hamada, D.  et al. 2005	15880602				exocyst complex component 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021807.3	Japanese	Japan	CDC GDPinfo	60412	Hs.321273			Arthritis and rheumatism. 2005 May;52(5):1371-80	Association between single-nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population.		608185	10441	2	2005	 Our locus-wide association and LD analyses identified intronic SNPs and haplotypes in the SEC8L1 gene that are strongly associated with RA. We propose that SEC8L1, which encodes a component of the exocyst complex, is a candidate susceptibility gene for RA in the Japanese population.	Case:760 Japanese rheumatoid arthritis patients (157 men and 603 women);Control:806 non-rheumatoid arthritis controls (189 men and 617:women)										
134001	N	autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	14	14q24.3-q31	SEL1L	81007645	81069886		Ban, Y.  et al. 2001	11349831				Sel-1 suppressor of lin-12-like (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005065.3	Japanese		CDC GDPinfo	6400	Hs.181300			Thyroid. 2001 Apr;11(4):335-8	SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases.		602329	13560	2	2001	The present results do not support an association between a dinucleotide repeat polymorphism in intron 20 of the SEL1L gene and AITD in Japanese women.	Case:114 unrelated female patients with Hashimoto's:thyroiditis:Japan;Case:133 unrelated female patients with Graves' disease:Japan;Control:179 unrelated women without clinical evidence or family history of any autoimmune disease:Japan										
134002		thyroid cancer	CANCER	CAN		14	14q24.3-q31	SEL1L	81007645	81069886		Chiaramonte, R.  et al. 2002	12030374				Sel-1 suppressor of lin-12-like (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005065.3	Italian		CDC GDPinfo	6400	Hs.181300			Molecular and cellular biochemistry. 2002 Mar;232(2-Jan):159-61	Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population.		602329	13561	2	2002	In the light of the highly polymorphic nature of both microsatellites and their intragenic location in SEL1L gene, we suggest that they could provide a means for linkage analysis to clarify the potential role of SEL1L in conferring susceptibility to IDDM or Grave's disease.	Cohort 94 DNA samples from peripheral blood mononuclear (PBMC) cells from adults of Northern Italy northern Italy 										
133997		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	11	11q23	SDHD	111462831	111471727			16322339				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDPinfo	6392	Hs.356270			Endocrine-related cancer. 2005 Dec;12(4):1011-6	No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma		602690	25510	2	2005												
133998	Y	paragangliomas, head and neck	CANCER	CAN	Paraganglioma|Head and Neck Neoplasms	11	11q23	SDHD	111462831	111471727		Baysal, B. E.  et al. 2002	11897817				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1		United States	CDC GDPinfo	6392	Hs.356270			Journal of medical genetics. 2002 Mar;39(3):178-83	Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.		602690	25511	2	2002	 Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.	Case:55 head and neck paraganglioma patients grouped into 10 families and 37 non-familial cases:US										
133999	Y	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q31	EXOC4	132588362	133401053	5.9e-005	Hamada D et al.	15880602	SNP441		other	exocyst complex component 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021807.3	Japanese	Japan		60412	Hs.321273			Arthritis and rheumatism. 2005 May;52(5):1371-80	Association between single-nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population.		608185	6798	1	2005	 Our locus-wide association and LD analyses identified intronic SNPs and haplotypes in the SEC8L1 gene that are strongly associated with RA. We propose that SEC8L1, which encodes a component of the exocyst complex, is a candidate susceptibility gene for RA in the Japanese population.	Case:760 Japanese rheumatoid arthritis patients (157 men and 603 women);Control:806 non-rheumatoid arthritis controls (189 men and 617:women)										
133994	N	thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Precancerous Conditions|Hyperplasia	11	11q23	SDHD	111462831	111471727		Cascon, A.  et al. 2004	15623805				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDPinfo	6392	Hs.356270			The Journal of clinical endocrinology and metabolism. 2005 Apr;90(4):2127-30	Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma.		602690	19347	2	2004	We conclude that  SDHD variants do not constitute a risk factor for developing CCH or sporadic MTC.	Cohort 										
133995	Y	paragangliomas, head and neck; pheochromocytomas	CANCER	CAN	Paraganglioma|Pheochromocytoma|Abdominal Neoplasms|Adrenal Gland Neoplasms|Head and Neck Neoplasms|Thyroid Neoplasms|Thoracic Neoplasms|Syndrome	11	11q23	SDHD	111462831	111471727		Neumann, H. P.  et al. 2004	15328326				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1		Poland|Germany	CDC GDPinfo	6392	Hs.356270			JAMA. 2004 Aug;292(8):943-51	Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.		602690	23366	2	2004	 In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas. Appropriate and timely clinical screening is recommended in all patients with PGL-1 and PGL-4.	Cohort 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paragangliomas (n = 83), but without syndromic features, from 2 registries Poland and Germany Apr, 2000 - May, 2004 										
133996		pheochromocytoma	OTHER	OTH	Pheochromocytoma|Glomus Tumor|Multiple Endocrine Neoplasia Type 2a|Hippel-lindau Disease	11	11q23	SDHD	111462831	111471727		Neumann, H. P.  et al. 2002	12000816				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDPinfo	6392	Hs.356270			The New England journal of medicine. 2002 May;346(19):1459-66	Germ-line mutations in nonsyndromic pheochromocytoma		602690	25509	2	2002	 Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	Case:271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease										
133991		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	1	1q21	SDHC	159550789	159601159			16322339				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3			CDC GDPinfo	6391	Hs.444472			Endocrine-related cancer. 2005 Dec;12(4):1011-6	No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma		602413	23364	2	2005												
133992		paragangliomas, head and neck	CANCER	CAN	Paraganglioma|Head and Neck Neoplasms	1	1q21	SDHC	159550789	159601159		Baysal, B. E.  et al. 2002	11897817				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3		United States	CDC GDPinfo	6391	Hs.444472			Journal of medical genetics. 2002 Mar;39(3):178-83	Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.		602413	23365	2	2002	 Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.	Case:55 head and neck paraganglioma patients grouped into 10 families and 37 non-familial cases:US										
133993		familial non-RET C cell hyperplasia	OTHER	OTH	Hyperparathyroidism|Thyroid Diseases|Hyperplasia	11	11q23	SDHD	111462831	111471727		Lima J 2003	14557476				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			KGB	6392	Hs.356270			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4932-7	Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia.		602690	5371	1	2003	We conclude that  we have identified a new syndrome, characterized by familial non-RET C cell hyperplasia. Our studies suggest that a mutation in SDHD may be causative. These observations have implications for apparently incidental cases of hypercalcitoninemia or C cell hyperplasia.											
133989	Y	paragangliomas, head and neck; pheochromocytomas	CANCER	CAN	Paraganglioma|Pheochromocytoma|Abdominal Neoplasms|Adrenal Gland Neoplasms|Head and Neck Neoplasms|Thyroid Neoplasms|Thoracic Neoplasms|Syndrome	1	1p36.1-p35	SDHB	17217811	17253252		Neumann, H. P.  et al. 2004	15328326				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1		Poland|Germany	CDC GDPinfo	6390	Hs.465924			JAMA. 2004 Aug;292(8):943-51	Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.		185470	19346	2	2004	 In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas. Appropriate and timely clinical screening is recommended in all patients with PGL-1 and PGL-4.	Cohort 417 unrelated patients with adrenal or extra-adrenal abdominal or thoracic pheochromocytomas (n = 334) or head and neck paragangliomas (n = 83), but without syndromic features, from 2 registries Poland and Germany Apr, 2000 - May, 2004 										
133990		pheochromocytoma	OTHER	OTH	Pheochromocytoma|Glomus Tumor|Multiple Endocrine Neoplasia Type 2a|Hippel-lindau Disease	1	1p36.1-p35	SDHB	17217811	17253252		Neumann, H. P.  et al. 2002	12000816				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDPinfo	6390	Hs.465924			The New England journal of medicine. 2002 May;346(19):1459-66	Germ-line mutations in nonsyndromic pheochromocytoma		185470	23363	2	2002	 Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	Case:271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease										
133984	Y	prolonged survival associated	OTHER	OTH	Paraganglioma|Bone Neoplasms|Multiple Endocrine Neoplasia Type 2a	1	1p36.1-p35	SDHB	17217811	17253252		Young AL et al. 2002	12213855				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			KGB	6390	Hs.465924			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4101-5	Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.		185470	5368	1	2002												
133985	Y	extra-adrenal and/or malignant phaeochromocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Urinary Bladder Neoplasms	1	1p36.1-p35	SDHB	17217811	17253252	0.001	Gimenez-Roqueplo AP 2003	14500403				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			KGB	6390	Hs.465924			Cancer research. 2003 Sep;63(17):5615-21	Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.		185470	5369	1	2003												
133987		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	1	1p36.1-p35	SDHB	17217811	17253252			16322339				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDPinfo	6390	Hs.465924			Endocrine-related cancer. 2005 Dec;12(4):1011-6	No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma		185470	13559	2	2005												
133981		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2	8	8q22-q23	SDC2	97575057	97693213		Liu L 2003	12708751				Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002998.3	Chinese	China	Y Wang	6383	Hs.1501	diabetic nephropathy		Molecular and cellular biochemistry. 2003 Mar;245(2-Jan):121-6	The heparan sulfate proteoglycan gene polymorphism: association with type 2 diabetic nephropathy in Chinese.		142460	5362	1	2003	The T allele of the HSPG gene BamHI polymorphism located in intron 6 may be a risk factor for the development of renal insufficiency in type 2 diabetes mellitus for Chinese.	Control:190:non-diabetics;Case:290 Chinese type 2 diabetes mellitus patients comprising 77 cases without nephropathy and 213 cases with nephropathy with either proteinuria (163) or renal insufficiency (50)										
133982		diabetes, type 2; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2	8	8q22-q23	SDC2	97575057	97693213		Liu, L.  et al. 2003	12708751				Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002998.3	Chinese	China	CDC GDPinfo	6383	Hs.1501			Molecular and cellular biochemistry. 2003 Mar;245(2-Jan):121-6	The heparan sulfate proteoglycan gene polymorphism:association with type 2 diabetic nephropathy in Chinese.		142460	13558	2	2003	The T allele of the HSPG gene BamHI polymorphism located in intron 6 may be a risk factor for the development of renal insufficiency in type 2 diabetes mellitus for Chinese.	Control:190:non-diabetics;Case:290 Chinese type 2 diabetes mellitus patients comprising 77 cases without nephropathy and 213 cases with nephropathy with either proteinuria (163) or renal insufficiency (50)										
133983		diabetes, type 2; diabetic nephropathy	UNKNOWN	UNK	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	8	8q22-q23	SDC2	97575057	97693213		Liu, L.  et al. 2003	14674716				Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002998.3	Chinese		CDC GDPinfo	6383	Hs.1501			Molecular and cellular biochemistry. 2003 Dec;254(2-Jan):353-8	Co-inheritance of specific genotypes of HSPG and ApoE gene increases risk of type 2 diabetic nephropathy.		142460	23362	2	2003	These results suggest that the HSPG T allele is a risk factor for the development of severe diabetic nephropathy in type 2 diabetic patients, and that the ApoE E2 allele is a risk factor for the occurrence of type 2 diabetes mellitus in Chinese general population. In addition, we find that co-inheritance of T/E2 confers a higher risk of type 2 diabetes mellitus progression to diabetic nephropathy in Chinese.	Case:298 Chinese type 2 diabetic patients;Control:87 nondiabetic controls										
133978		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renovascular|Hypertension|Genetic Predisposition to Disease	16	16p12	SCNN1G	23101540	23135701		Kamide, K.  et al. 2004	15198480				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2	Japanese		CDC GDPinfo	6340	Hs.371727			Hypertension research. 2004 May;27(5):333-8	Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.		600761	23360	2	2004	The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes. Thus, further investigation of these mutations, including functional analyses, will be needed.	Cohort 948/953 Japanese patients with hypertension, sequenced for the 381 bp-coding regions in exon 13 of SCNN1B (n=948) and the 381 bp-coding regions in exon 12 of SCNN1G (n=953) 										
133979		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16p12	SCNN1G	23101540	23135701		Hannila-Handelberg, T.  et al. 2005	15661075				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2	Finnish		CDC GDPinfo	6340	Hs.371727			BMC medical genetics [electronic resource]. 2005 Jan;6:4	Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.		600761	23361	2	2005	 At least 9% of Finnish patients with hypertension admitted to a specialized center carry genetic variants of beta and gammaENaC, a three times higher prevalence than in the normotensive individuals or in random healthy controls. Patients with the variant alleles showed an increased urinary potassium excretion rate in relation to their renin levels.	Control:175/301 male subjects with documented long-lasting normotension (n=175) and healthy blood donors:(n=301);Case:347 patients with treatment-resistant hypertension										
133980	Y	hypertrophic cardiomyopathy and cytochrome c oxidase deficiency	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	22	22q13.33	SCO2	49308862	49310899		Jaksch M et al. 2000	10749987				SCO cytochrome oxidase deficient homolog 2 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005138.1			KGB	9997	Hs.567405			Human molecular genetics. 2000 Mar;9(5):795-801	Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.		604272	6651	1	2000												
133975	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16p12	SCNN1G	23101540	23135701		Iwai, N.  et al. 2001	11463765			promoter	Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2		Japan	CDC GDPinfo	6340	Hs.371727			Hypertension. 2001 Jul;38(1):86-9	Association of Sodium Channel gamma-Subunit Promoter Variant With Blood Pressure		600761	19341	2	2001	Although the effects of the A(-173) allele were recessive and although the AA genotype was found in just 0.7% of our study population, we observed that this variation of human SCNN1G had significant effects on blood pressure.	Cohort 4075 representing the general population in Japan 										
133976		hypertension	CARDIOVASCULAR	CARD		16	16p12	SCNN1G	23101540	23135701		Maitland-van der Zee, A. H.  et al. 2005	15864129				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2			CDC GDPinfo	6340	Hs.371727			Pharmacogenetics and genomics. 2005 May;15(5):287-93	A multilocus approach to the antihypertensive pharmacogenetics of hydrochlorothiazide.		600761	19342	2	2005	 Two polymorphisms in the sodium channel gamma-subunit promotor gene, and a polymorphism in the endothelial nitric oxide synthase gene, were associated with significant differences in odds of DBP response to hydrochlorothiazide. Follow-up studies are needed to define the functional genetic variations and their mechanisms of pharmacogenetic effects.	Case:195 of 585 adults with essential hypertension with the highest tertile of diastolic blood pressure:response;Control:195 of 585 adults with essential hypertension with the lowest tertile of diastolic blood pressure response										
133977		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	16	16p12	SCNN1G	23101540	23135701			16172412				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2			CDC GDPinfo	6340	Hs.371727			Hypertension. 2005 Oct;46(4):758-65	WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic		600761	23359	2	2005												
133972		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Hannila-Handelberg, T.  et al. 2005	15661075				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	Finnish		CDC GDPinfo	6338	Hs.414614			BMC medical genetics [electronic resource]. 2005 Jan;6:4	Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.		600760	19340	2	2005	 At least 9% of Finnish patients with hypertension admitted to a specialized center carry genetic variants of beta and gammaENaC, a three times higher prevalence than in the normotensive individuals or in random healthy controls. Patients with the variant alleles showed an increased urinary potassium excretion rate in relation to their renin levels.	Control:175/301 male subjects with documented long-lasting normotension (n=175) and healthy blood donors:(n=301);Case:347 patients with treatment-resistant hypertension										
133973	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p12	SCNN1G	23101540	23135701		Morris B et al. 2001	11180614			promoter	Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2			KGB	6340	Hs.371727			Human mutation. 2001 Feb;17(2):157	Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension.		600761	5333	1	2001	Our negative finding for the G(-173)A variant in Australian Anglo-Celtic Caucasians adds to findings by others for a lack of association with hypertension of SNPs in exons 3 and 13 of SCNN1G in French Caucasians and in Afro-Caribbean Blacks.	Case:117/47 Australian Anglo-Celtic Caucasian hypertensives (n=117) and overweight hypertensives (n=47);Control:146:normotensives										
133974	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p12	SCNN1G	23101540	23135701		Morris, B.  et al. 2001	11180614	(-173G>A)		promoter	Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2	French		CDC GDPinfo	6340	Hs.371727			Human mutation. 2001 Feb;17(2):157	Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension.		600761	13557	2	2001	Our negative finding for the G(-173)A variant in Australian Anglo-Celtic Caucasians adds to findings by others for a lack of association with hypertension of SNPs in exons 3 and 13 of SCNN1G in French Caucasians and in Afro-Caribbean Blacks.	Case:117/47 Australian Anglo-Celtic Caucasian hypertensives (n=117) and overweight hypertensives (n=47);Control:146:normotensives										
133969		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Nkeh, B.  et al. 2003	14553964				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	individuals of African ancestry in South Africa	South Africa	CDC GDPinfo	6338	Hs.414614			American journal of hypertension. 2003 Oct;16(10):847-52	T594M variant of the epithelial sodium channel beta-subunit gene and hypertension in individuals of African ancestry in South Africa		600760	19337	2	2003	 These results do not support an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of African ancestry.	Control:514 normotensive South African individuals of African:ancestry;Case:519 hypertensive patients of African ancestry with 24-h ambulatory BP (ABP) values determined while off:medication										
133970		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renovascular|Hypertension|Genetic Predisposition to Disease	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Kamide, K.  et al. 2004	15198480				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	Japanese		CDC GDPinfo	6338	Hs.414614			Hypertension research. 2004 May;27(5):333-8	Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives.		600760	19338	2	2004	The roles of these missense mutations in the SCNN1B or SCNN1G gene identified in hypertensive patients are not clear in the pathogenesis of hypertension and the regulation of electrolytes. Thus, further investigation of these mutations, including functional analyses, will be needed.	Cohort 948/953 Japanese patients with hypertension, sequenced for the 381 bp-coding regions in exon 13 of SCNN1B (n=948) and the 381 bp-coding regions in exon 12 of SCNN1G (n=953) 										
133971	N	preeclampsia; eclampsia	REPRODUCTION	REP	Eclampsia|Pre-Eclampsia	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Pegoraro, R. J.  et al. 2004	15327619				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	South African	South Africa	CDC GDPinfo	6338	Hs.414614			BJOG. 2004 Sep;111(9):1012-3	T594M mutation of the epithelial sodium channel beta-subunit gene in pre-eclampsia and eclampsia in Black South African women.		600760	19339	2	2004	These results suggest that the T594M polymorphism in the sodium channel beta-subunit is not associated with the pathogenesis of pre-eclampsia or gestational hypertension.	Case:204/ 67/ 120/ 78 Black South African women with pre-eclampsia (n= 204), early onset pre-eclampsia (n= 67), eclampsia (n= 120) and gestational hypertension (n= 78);Control:338 women from the same ethnic group who had full-term normotensive pregnancies										
133966		blood pressure	CARDIOVASCULAR	CARD		16	16p12.2-p12.1	SCNN1B	23221091	23300121		Matsubara, M.  et al. 2002	11863256				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	Japanese		CDC GDPinfo	6338	Hs.414614			American journal of hypertension. 2002 Feb;15(2 Pt 1):189-92	Genotypes of the betaENaC gene have little influence on blood pressure level in the Japanese population.		600760	19334	2	2002	These results indicate that Japanese people possess three polymorphisms in exon 12, all of which are unique, and one in exon 8. These genetic variants of betaENaC may not influence the BP level of Japanese people.	Control;Case:803 subjects randomly selected from the representative:participants:Ohasama, Japan										
133967		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Dong, Y. B.  et al. 2002	12180079				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	Ghanaian	Ghana|London	CDC GDPinfo	6338	Hs.414614			Genetic testing. 2002 ;6(1):63-5	T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension		600760	19335	2	2002	If this is reflected in larger studies, and the link with hypertension is maintained in the Ghanaian population, this mutation could be a significant cause of hypertension in Ghana.	Cohort 95/91 Ghanan indigenous (n=95) and those that settled in the UK (n=91) 										
133968	Y	hypertension	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Heart Failure|Hypertension|Hypokalemia|Genetic Predisposition to Disease	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Rayner, B. L.  et al. 2003	12714866				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	South African	South Africa	CDC GDPinfo	6338	Hs.414614			Journal of hypertension. 2003 May;21(5):921-6	A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.		600760	19336	2	2003	 R563Q, a new variant of the beta epithelial sodium channel, is associated with low-renin, low-aldosterone hypertension, in South African black and mixed-ancestry patients. Only a minority of individuals with the R563Q allelle fully express the Liddle's syndrome phenotype.	Control:100 mixed ancestry normotensives;Control:103 black normotensives;Case:136 white hypertensives;Case:139 black hypertensives										
133963	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	SCNN1A	6326273	6354976		Iwai, N.  et al. 2002	11752024			promoter	Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4			CDC GDPinfo	6337	Hs.591047			Journal of the American Society of Nephrology. 2002 Jan;13(1):80-5	Association of a sodium channel alpha subunit promoter variant with blood pressure.		600228	19333	2	2002	Therefore, possession of the SCNN1A G(2139) allele significantly increased the risk of hypertension. A lower level of SCNN1A subunit expression among subjects with the AA genotype might lead to lower levels of sodium reabsorption in the kidney and might provide protection against the development of hypertension.	Cohort 3898 individuals representing the general population Japan 										
133964		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	SCNN1A	6326273	6354976		Sugiyama, T.  et al. 2001	11675945				Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4	Japanese	Japan	CDC GDPinfo	6337	Hs.591047			Hypertension research. 2001 Sep;24(5):515-21	Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population.		600228	25508	2	2001	Our data did not support the association between Mendelian disease gene variants and essential hypertension in the Japanese. However, the present study did not definitively resolve this issue and further investigation is certainly warranted.	Case:247 severe hypertensive patients with early onset (<45:years);Control:291 older normotensive subjects (>60 years)										
133965		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	12	12p13	SCNN1A	6326273	6354976		Zee, R. Y.  et al. 2002	12082592				Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4			CDC GDPinfo	6337	Hs.591047			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		600228	28667	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
133960		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Tester, D. J.  et al. 2005	15840476				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Heart rhythm. 2005 May;2(5):507-17	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.		600163	27201	2	2005	 In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.											
133961		EKG, abnormal	CARDIOVASCULAR	CARD	Syncope|Heart Defects, Congenital|Death, Sudden, Cardiac|Long QT Syndrome|Heart Arrest|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Khositseth, A.  et al. 2004	15851119				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Heart rhythm. 2004 May;1(1):60-4	Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.		600163	27202	2	2004	 There is a relatively gene-specific molecular basis underlying cardiac events during the postpartum period in LQTS. Along with previous gene-specific associations involving swimming and LQT1 as well as auditory triggers and LQT2, this association between postpartum cardiac events and LQT2 can facilitate strategic genotyping.	Cohort 388 unrelated patients (260 females, average age at diagnosis, 23 years, and average QTc, 482 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing 										
133962	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q21-q23	SCN7A	166969784	167058963		Zhang, K.  et al. 2003	14669210				Sodium channel, voltage-gated, type VII, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002976.1	Chinese	China	CDC GDPinfo	6332	Hs.591623			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):463-7	[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]		182392	13556	2	2003	 The SNP021 in the gene SCN7A is associated with essential hypertension of Chinese Han population in Shanghai and the role of SCN7A gene in hypertension deserves to be further analyzed.	Case:96 Chinese Han hypertensives:Shanghai, China;Control:96 normotensive controls										
133957		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Paulussen, A. D.  et al. 2004	14760488				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Journal of molecular medicine (Berlin, Germany). 2004 Mar;82(3):182-8	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.		600163	27198	2	2004	We conclude that  missense mutations in the examined cLQTS genes explain only a minority of aLQTS cases.	Case:32 durg-induced acquired long QT syndrome patients with confirmed torsade de pointes;Control:32 healthy individuals										
133958		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Westenskow, P.  et al. 2004	15051636				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Circulation. 2004 Apr;109(15):1834-41	Compound Mutations. A Common Cause of Severe Long-QT Syndrome		600163	27199	2	2004	 LQTS-associated compound mutations cause a severe phenotype and are more common than expected. Individuals with compound mutations need to be identified, and their management should be tailored to their increased risk for arrhythmias.	Cohort 252 Long QT syndrome probands 										
133959		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Fodstad, H.  et al. 2004	15176425				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Finnish	Finland	CDC GDPinfo	6331	Hs.517898			Annals of medicine. 2004 ;36 Suppl 1:53-63	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.		600163	27200	2	2004	 The extent of genetic homogeneity underlying LOTS in Finland is unique in the whole world, providing a major advantage for screening and presymptomatic diagnosis of LOTS, and constituting an excellent basis to study the role of genetic and non-genetic factors influencing phenotypic variability in this disease.	Cohort 188 unrelated probands with long-QT syndrome 										
133954		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Chatrath, R.  et al. 2004	15534720				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Pediatric cardiology. 2004 Sep-Oct;25(5):459-65	Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome.		600163	25507	2	2004	In this study cohort, one-fourth of genotyped LQTS probands failed beta-blocker therapy. Treatment with atenolol, young age at diagnosis, initial presentation with ACA, KVLQT1 genotype, and noncompliance may be important factors underlying beta-blocker therapy failures.	Cohort 28 patients with symptomatic long-QT syndrome 	beta blockers									
133955		EKG, abnormal	CARDIOVASCULAR	CARD		3	3p21	SCN5A	38564556	38666167		Gouas, L.  et al. 2005	16132053				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			European journal of human genetics. 2005 Nov;13(11):1213-22	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.		600163	26550	2	2005												
133956		long-QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Itoh, T.  et al. 2001	11289718				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Journal of human genetics. 2001 ;46(1):38-40	Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.		600163	27197	2	2001	In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.	Cohort patients responding to beta-adrenergic blocking agents 	beta blockers									
133951		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Allan, W. C.  et al. 2001	11743032				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Journal of medical screening. 2001 ;8(4):173-7	Long QT syndrome in children: the value of ratecorrected QT interval and DNA analysis as screening tests in the general population.		600163	25504	2	2001	 The only available screening test for LQTS is ECG measurement. If DNA technology becomes available for screening, unit costs must be very low to be competitive. There are multiple problems with screening for LQTS: only a minority of children will be detected, cost/death avoided is high, and pilot studies would need to be in place for 5-10 years to document efficacy.	Case:117 children affected with long QT syndrom;Control:133 unaffected children										
133952		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Yang, P.  et al. 2002	11997281				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Circulation. 2002 Apr;105(16):1943-8	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes		600163	25505	2	2002	 DNA variants in the coding regions of congenital long-QT disease genes predisposing to aLQTS can be identified in approximately 10% to 15% of affected subjects, predominantly in genes encoding ancillary subunits.	Control:67 controls drawn from patients tolerating QT-prolonging drugs;Case:92 cohort of long-QT syndrome	QT-prolonging drugs									
133953		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Disease Progression	3	3p21	SCN5A	38564556	38666167		Priori, S. G.  et al. 2004	15367556				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			JAMA. 2004 Sep;292(11):1341-4	Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers		600163	25506	2	2004	 Among patients with genetic LQTS treated with beta-blockers, there is a high rate of cardiac events, particularly among patients with LQT2 and LQT3 genotypes.	Cohort 335 consecutive LQTS-genotyped patients Italy 	beta blockers									
133948	N	Brugada syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Bundle-Branch Block|Arrhythmias, Cardiac|Syndrome	3	3p21	SCN5A	38564556	38666167		Yokoi, H.  et al. 2005	15851320				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Heart rhythm. 2005 Mar;2(3):285-92	Double SCN5A mutation underlying asymptomatic Brugada syndrome.		600163	19331	2	2005	 Asymptomatic individuals with a Brugada-type ECG generally have a better prognosis than their symptomatic counterparts, but a subgroup of these individuals may have a poor prognosis. Severe Na channel dysfunction as a result of SCN5A mutations may not be sufficient to cause symptoms or arrhythmias in patients with Brugada syndrome, suggesting unknown factors or modifier genes influence arrhythmogenesis.	Cohort 30 asymptomatic probands (29 men and 1 woman; mean age 47.1 years) exhibiting a spontaneous Brugada-type ECG 										
133949		Brugada syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Syndrome	3	3p21	SCN5A	38564556	38666167		Rossenbacker, T.  et al. 2005	15863661			intron	Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Journal of medical genetics. 2005 May;42(5):e29	Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.		600163	19332	2	2005	 This is the first report of an unconventional intronic splice site mutation in the SCN5A gene leading to cardiac sodium channelopathy. We speculate that its phenotypical diversity might be determined by the ratio of normal/abnormal transcripts derived from the mutant allele.	Cohort 100 ethnically matched normal control subjects 										
133950		long QT syndrome	CARDIOVASCULAR	CARD	Syncope|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac	3	3p21	SCN5A	38564556	38666167		Schwartz, P. J.  et al. 2001	11136691				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Circulation. 2001 Jan;103(1):89-95	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers forlife-threatening arrhythmias.		600163	25503	2	2001	 Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches.	Cohort 670 LQTS patients of known genotype (LQT1, n=371; LQT2, n=234; LQT3, n=65) who had symptoms (syncope, cardiac arrest, sudden death) 	emotion physical activity sleep/rest									
133945		Brugada syndrome	CARDIOVASCULAR	CARD	Ventricular Fibrillation|Syndrome	3	3p21	SCN5A	38564556	38666167		Schulze-Bahr, E.  et al. 2003	14961552				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Human mutation. 2003 Jun;21(6):651-2	Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: differentincidences in familial and sporadic disease		600163	19326	2	2003	These results are in line with a possibly genetic and clinical heterogeneity of BS.	Cohort 440 unrelated index patients with Brugada syndrome in a multi-center effort 										
133946	Y	Brugada syndrome	CARDIOVASCULAR	CARD	Bundle-Branch Block	3	3p21	SCN5A	38564556	38666167		Shin, D. J.  et al. 2004	15338453				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Korean	Korea	CDC GDPinfo	6331	Hs.517898			Journal of human genetics. 2004 ;49(10):573-8	Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome		600163	19327	2	2004	This mutation was not found in 150 unrelated normal individuals. This finding is the first report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans.	Cohort 150 unrelated individuals 										
133947		Brugada syndrome	CARDIOVASCULAR	CARD	Bundle-Branch Block|Long QT Syndrome|Ventricular Fibrillation|Syndrome|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Ackerman, M. J.  et al. 2004	15851227				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	black, white, Asian, and Hispanic individuals		CDC GDPinfo	6331	Hs.517898			Heart rhythm. 2004 Nov;1(5):600-7	Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenicsusceptibility and Brugada/long QT syndrome genetic testing.		600163	19330	2	2004	 This study provides the first comprehensive determination of the prevalence and spectrum of cardiac sodium channel variants in healthy subjects from four distinct ethnic groups. This compendium of SCN5A variants is critical for proper interpretation of SCN5A genetic testing and provides an essential hit list of targets for future functional studies to determine whether or not any of these variants mediate genetic susceptibility for arrhythmias in the setting of either drugs or disease.											
133941		Brugada syndrome	CARDIOVASCULAR	CARD	Ventricular Fibrillation|Syndrome	3	3p21	SCN5A	38564556	38666167		Chen, J. Z.  et al. 2004	15161528				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Chinese	China	CDC GDPinfo	6331	Hs.517898			Chinese medical journal. 2004 May;117(5):652-6	Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome		600163	13552	2	2004	 The distribution of SCN5A SNPs may vary between different ethnicities. The polymorphism of A1673G might be associated with BS and may contribute to a susceptibility to BS in Han Chinese.	Control:120 unrelated healthy volunteers;Case:48 unrelated Han Chinese Brugada syndrome patients										
133942		arrhythmia, cardiac	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Arrhythmias, Cardiac|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Maekawa, K.  et al. 2005	15996170				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Japanese		CDC GDPinfo	6331	Hs.517898			Annals of human genetics. 2005 Jul;69(Pt 4):413-28	Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.		600163	13553	2	2005												
133943		cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Tachycardia, Ventricular|Heart Arrest	3	3p21	SCN5A	38564556	38666167		Burke, A.  et al. 2005	16061744	Y1102			Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Circulation. 2005 Aug;112(6):798-802	Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks.		600163	13554	2	2005	 The Y1102 allele is a risk factor in blacks for sudden cardiac death in the absence of obvious morphological findings or mild to moderate cardiomegaly.											
133938		Brugada syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Bundle-Branch Block|Death, Sudden|Syndrome|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Hong K 2004	15028074				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	European	Spain	KGB	6331	Hs.517898			Journal of cardiovascular electrophysiology. 2004 Jan;15(1):64-9	Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:.		600163	5331	1	2004	 Our results support the hypothesis that (1) sudden unexpected death syndrome and Brugada syndrome are the same disease; (2) male predominance of the phenotype observed in sudden unexpected death syndrome does not apply to this family, suggesting that factors other than the specific mutation determine the gender distinction; and (3) ajmaline may provide false-positive results. These findings have broad implications relative to the diagnosis and risk stratification of family members of patients with the Brugada syndrome.											
133939	Y	cardiac arrhythmias and sudden death	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Death, Sudden	3	3p21	SCN5A	38564556	38666167		Chen S et al. 2002	12471205				sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056			KGB	6331	Hs.556087			J Med Genet	SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.		600163	5332	1	2002												
133940		thyrotoxic periodic paralysis	OTHER	OTH	Arrhythmias, Cardiac|Arrhythmias, Cardiac	3	3p21	SCN5A	38564556	38666167		Xie, X. D.  et al. 2004	14985827				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Chinese	China	CDC GDPinfo	6331	Hs.517898			Sheng li xue bao [Acta physiologica Sinica]. 2004 Feb;56(1):36-40	[Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group]		600163	13551	2	2004	It is suggested that the SNP distribution of SCN5A gene varies within different nationalities. These data will be of use for genetic association studies of acquired arrythmias and investigation of sensitivity to drug therapy.	Cohort 120 unrelated samples from Han nationality south China 										
133935	Y	cardiac conduction disturbances and degenerative changes	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Tachycardia|Infant, Newborn, Diseases	3	3p21	SCN5A	38564556	38666167		Bezzina CR et al. 2003	12574143				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Circulation research. 2003 Feb;92(2):159-68	Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.		600163	5328	1	2003												
133936		Congenital sick sinus syndrome	OTHER	OTH	Sick Sinus Syndrome	3	3p21	SCN5A	38564556	38666167		Benson DW 2003	14523039				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			The Journal of clinical investigation. 2003 Oct;112(7):1019-28	Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).		600163	5329	1	2003												
133937		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Zareba W 2003	12849668				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Journal of the American College of Cardiology. 2003 Jul;42(1):103-9	Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.		600163	5330	1	2003												
133930		thyrotoxic periodic paralysis	OTHER	OTH	Hypokalemic Periodic Paralysis|Hyperthyroidism|Thyrotoxicosis	17	17q23-q25.3	SCN4A	59369645	59404010		Ng, W. Y.  et al. 2004	15072700				Sodium channel, voltage-gated, type IV, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000334.4			CDC GDPinfo	6329	Hs.46038			Thyroid. 2004 Mar;14(3):187-90	Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis		603967	23358	2	2004	These results suggest that despite close similarities between TPP and hypoKPP, a likely genetic basis for TPP does not involve the same gene mutations associated with hypoKPP.	Control:32 healthy subjects;Case:48/1 patients with hyperthyroidism resulting from Graves' disease (n=48) and 1 patient with idiopathic hypoKPP (a 32-year-old male)										
133931	Y	inherited cardiac arrhythmia long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Wang Q et al. 1995	7889574				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Cell. 1995 Mar;80(5):805-11	SCN5A mutations associated with an inherited cardiac arrhythmia long QT syndrome.		600163	5324	1	1995												
133933	Y	Drug-induced long-QT syndrome	OTHER	OTH	Long QT Syndrome|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Makita N et al. 2002	12208804				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Circulation. 2002 Sep;106(10):1269-74	Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation.		600163	5326	1	2002	 This study demonstrates that subclinical mutations in the LQTS-related gene SCN5A may predispose certain individuals to drug-induced cardiac arrhythmias.											
133927		epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic	2	2q24.3	SCN1A	166553915	166638395		Fukuma, G.  et al. 2004	14738421				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			CDC GDPinfo	6323	Hs.22654			Epilepsia. 2004 Feb;45(2):140-8	Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).		182389	19317	2	2004	 Our findings confirm that SMEB is part of the SMEI spectrum and may expand the recognition of SMEI and suggest other responsible or modifying genes.	Case:58 unrelated individuals whose clinical features were consistent with either core zevere myoclonic epilepsy in infancy (n = 31) or borderline severe myoclonic epilepsy in infancy (n = 27)										
133928	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Seizures, Febrile	19	19q13.1	SCN1B	40213373	40223193		Wallace RH et al. 1998	9697698				sodium channel, voltage-gated, type I, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC067122			KGB	6324	Hs.436646			Nat Genet	Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.		600235	5322	1	1998												
133929		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	19	19q13.1	SCN1B	40213373	40223193		Mz, H.  et al. 2005	16205844				Sodium channel, voltage-gated, type I, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001037.3		Kuwait	CDC GDPinfo	6324	Hs.436646			Journal of biomedical science. 2005 Oct;12(5):815-8	Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.		600235	25502	2	2005												
133924	N	seizures	NEUROLOGICAL	NEUR	Seizures|Fever	2	2q24.3	SCN1A	166553915	166638395		Chou, I. C.  et al. 2003	12742596				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			CDC GDPinfo	6323	Hs.22654			Epilepsy research. 2003 Apr;54(1):53-7	The lack of association between febrile convulsions and polymorphisms in SCN1A		182389	13550	2	2003	These data suggest that the SCN1A gene might not be one of the susceptibility factors for FCs. Pure FCs and febrile convulsions associated with idiopathic generalized epilepsy may not share a common genetic etiology.	Case:104 Taiwanese children with febrile convulsions:Taiwan;Control:83 normal control subjects										
133925	Y	epilepsy	OTHER	OTH	Epilepsy|Epilepsy, Generalized|Seizures, Febrile|Syndrome	2	2q24.3	SCN1A	166553915	166638395		Escayg, A.  et al. 2001	11254445				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			CDC GDPinfo	6323	Hs.22654			American journal of human genetics. 2001 Apr;68(4):866-73	A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.		182389	19315	2	2001	Although a few candidate disease alleles were identified, the patient survey suggests that SCN1A is not a major contributor to idiopathic generalized epilepsy.	Control:185 unaffected individuals;Case:226 patients with either juvenile myoconic epilepsy, absence epilepsy, or febrile convulsions										
133926	Y	epilepsy	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile|Epilepsy, Absence|Mental Retardation|Genetic Predisposition to Disease	2	2q24.3	SCN1A	166553915	166638395		Nabbout, R.  et al. 2003	12821740				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3		France|Italy	CDC GDPinfo	6323	Hs.22654			Neurology. 2003 Jun;60(12):1961-7	Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.		182389	19316	2	2003	 Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.	Cohort 93 patients with severe myoclonic epilepsy in infancy 										
133921		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q32	SCGB3A2	147238466	147241946		Batra, J.  et al. 2004	15591807				Secretoglobin, family 3A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054023.2	Indian	India	CDC GDPinfo	117156	Hs.483765			International archives of allergy and immunology. 2005 Jan;136(1):6-Jan	Uteroglobin-related protein 1(UGRP1) gene polymorphisms and atopic asthma in the Indian population.		606531	13549	2	2004	 Our results suggest that the G-112A and C222A polymorphisms do not play a significant role in the genetic predisposition of UGRP1 gene in atopic asthma in the Indian population.	Control:160 Indian controls;Case:165 Indian atopic asthmatics										
133922		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	5	5q32	SCGB3A2	147238466	147241946		Yang, Y.  et al. 2005	16195814				Secretoglobin, family 3A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054023.2	Chinese		CDC GDPinfo	117156	Hs.483765			Journal of human genetics. 2005 ;50(11):574-82	Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves' disease.		606531	26549	2	2005												
133923	Y	generalized epilepsy	OTHER	OTH	Epilepsy|Epilepsy, Generalized|Seizures, Febrile|Syndrome	2	2q24.3	SCN1A	166553915	166638395		Escayg A et al. 2001	11254445				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			KGB	6323	Hs.22654	febrile seizures plus--and prevalence of variants		American journal of human genetics. 2001 Apr;68(4):866-73	A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.		182389	5321	1	2001	Although a few candidate disease alleles were identified, the patient survey suggests that SCN1A is not a major contributor to idiopathic generalized epilepsy.	Control:185 unaffected individuals;Case:226 patients with either juvenile myoconic epilepsy, absence epilepsy, or febrile convulsions										
133918	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q32	SCGB3A2	147238466	147241946	P=0.001	Niimi T 2002	11813133	Allele-112A (G/A.A/A)			Secretoglobin, family 3A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054023.2	Japanese	Japan	KCB	117156	Hs.483765			American journal of human genetics. 2002 Mar;70(3):718-25	A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.		606531	6855	1	2002												
133919	Y	bronchial asthma	IMMUNE	IMM	Asthma	5	5q32	SCGB3A2	147238466	147241946		Heinzmann A 2003	12915772				Secretoglobin, family 3A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054023.2			KGB	117156	Hs.483765			International archives of allergy and immunology. 2003 Aug;131(4):291-5	Association of uteroglobulin-related protein 1 with bronchial asthma.		606531	6856	1	2003	 We conclude from our data that UGRP1 does not play a major role in the development of bronchial asthma in our Caucasian population.											
133920	N	childhood atopic asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q32	SCGB3A2	147238466	147241946	n	Jian Z 2003	12859445				Secretoglobin, family 3A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054023.2			KGB	117156	Hs.483765			Clinical and experimental allergy. 2003 Jul;33(7):902-4	No evidence for association between the -112G/A polymorphism of UGRP1 and childhood atopic asthma.		606531	6857	1	2003	 Our findings indicate that the UGRP1-112G/A polymorphism does not play a substantial role in genetic predisposition to childhood asthma in this Japanese population.											
133914	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Sharma, S.  et al. 2004	15549500				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Indian	India	CDC GDPinfo	7356	Hs.523732			Journal of human genetics. 2004 ;49(12):677-83	Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.		192020	19314	2	2004	In summary, this is the first study identifying the CC16 gene to be associated with asthma in the Indian population.	Case:asthmatics;Control:controls										
133915		asthma	IMMUNE	IMM	Asthma|Acute Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243			16387800				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			American journal of respiratory and critical care medicine. 2005	Acute Asthma in Children: Relationship Between CD14and CC16 Genotype, Plasma Levels and Severity		192020	23357	2	2005	 Plasma levels of sCD14 and CC16 were higher during acute asthma in the subjects. Those with CD14 -159CC and CC16 38AA had no change in sCD14 and CC16 levels and more severe asthma.											
133916		asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Winterton, D. L.  et al. 2001	11258696				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8	Genetic polymorphisms as biomarkers of sensitivity to inhaled sulfur dioxide in subjects with asthma.		192020	26548	2	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.	Cohort 62 volunteers with physician-diagnosed asthma requiring regular asthma medication. 	sulfur dioxide									
133911	Y	asthma; dermatitis and eczema	IMMUNE	IMM	Asthma|Rhinitis|Dermatitis, Atopic|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Candelaria, P. V.  et al. 2005	15744536	CC10 A38G			Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3		Denmark	CDC GDPinfo	7356	Hs.523732			Immunogenetics. 2005 Apr;57(2-Jan):25-32	Association between asthma-related phenotypes and the CC16 A38G polymorphism in an unselected population of young adult Danes.		192020	13547	2	2005	This finding is consistent with previous studies in children, but is the first reported association between CC16 A38G and asthma in adults. CC16 38A also displayed a positive linear trend with atopic dermatitis.	Cohort 464 Danes, aged 19-29 years Copenhagen 										
133912		acute respiratory distress syndrome	UNKNOWN	UNK	Respiratory Distress Syndrome, Adult	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Frerking, I.  et al. 2005	16215398	(-26G>A)			Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			Critical care medicine. 2005 Oct;33(10):2404-6	Evaluation of the -26G>A CC16 polymorphism in acute respiratory distress syndrome.		192020	13548	2	2005	 The CC16 -26G>A polymorphism does not affect the susceptibility to and the outcome of ARDS.											
133913	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Gui, Q.  et al. 2003	14669228				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Chinese	China	CDC GDPinfo	7356	Hs.523732			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):542-3	[Study on association between CC16 gene G38A mutation and asthma in the patients of Han population in Chongqing, China]		192020	19313	2	2003	 CC16 gene may be not a susceptibility gene of asthmatic patients of Han population in southwest China.	Case:asthmatics;Control healthy controls										
133908		sarcoidosis	OTHER	OTH	Sarcoidosis, Pulmonary|Disease Progression	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Ohchi, T.  et al. 2003	14551164				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			American journal of respiratory and critical care medicine. 2004 Jan;169(2):180-6	Polymorphism of Clara Cell 10-kDa Protein Gene of Sarcoidosis		192020	13544	2	2003	The G38A polymorphism in the CC10 gene may influence protein expression and be associated with the development of progressive sarcoidosis.	Case:223 Japanese sarcoidosis patients with follow-up periods of 3 years or more;Control:258 Japanese controls										
133909	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Lu, J. C.  et al. 2004	14990020				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Chinese	China	CDC GDPinfo	7356	Hs.523732			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Jan;43(1):37-40	[Uteroglobin G38A polymorphism is associated with the progression of IgA nephropathy in Chinese patients]		192020	13545	2	2004	 Uteroglobin G38A polymorphism had no association with the development of IgA nephropathy, but the homogeneous 38AA genotype maybe one of the genetic markers for disease progression in Chinese IgA nephropathy.	Control:145 healthy donors;Case:300 Chinese patients with biopsy proven IgA nephropathy identified from Renal Disease database										
133910	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Janssen, R.  et al. 2004	15297273				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Japanese, Dutch	Japan|Netherlands	CDC GDPinfo	7356	Hs.523732			American journal of respiratory and critical care medicine. 2004 Dec;170(11):1185-7	Clara Cell 10 Protein Gene Polymorphism and Sarcoidosis Susceptibility in Dutch and Japanese		192020	13546	2	2004	We conclude that  the CC10 A38G polymorphism does not influence sarcoidosis susceptibility in Dutch whites or in Japanese subjects from Kyoto. This stresses the importance of studying the influence of polymorphisms on disease susceptibility in multiple ethnically and geographically distinct disease and control populations before reaching conclusions.	Case Dutch Caucasian and Kyoto Japanese sarcoidosis:patients Japan and the Netherlands;Control:controls										
133905		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Proteinuria|Disease Progression	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Narita, I.  et al. 2002	11967037	G38A			Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Japanese	Japan	CDC GDPinfo	7356	Hs.523732			Kidney international. 2002 May;61(5):1853-8	Role of uteroglobin G38A polymorphism in the progression of IgA nephropathy in Japanese patients		192020	13541	2	2002	 Uteroglobin GG genotype may be a genetic marker for rapid disease progression to end-stage renal failure, especially in the IgAN patients with heavy proteinuria or high blood pressure.	Control:160 patients with glomerulonephritis distinct from IgA:nephropathy;Control:196 healthy controls;Case:239 patients with IgA nephropathy										
133906		systemic lupus erythematosus; nephropathy, IgA	IMMUNE	IMM	Glomerulonephritis, IGA|Glomerulonephritis, Membranous|Glomerulosclerosis, Focal Segmental|Lupus Nephritis	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Menegatti, E.  et al. 2002	12003994				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			Laboratory investigation; a journal of technical methods and pathology. 2002 May;82(5):543-6	Polymorphism of the uteroglobin gene in systemic lupus erythematosus and IgA nephropathy		192020	13542	2	2002	UG is an immunomodulatory agent that is able to (a) inhibit the activity of several phospholipase A2 (PLA2s), (b) interfere with the function of both neutrophils and monocytes, and (c) prevent immune recognition, perhaps by masking surface antigens. This could account for the role this molecule plays in SLE. The A38G polymorphism is located within a region corresponding to the rat minimal promoter that proved to be important in the transcriptional regulation of UG. Although the significance of any alterations in the UG exon 1 noncoding region in humans has yet to be clarified, initial evidence suggests that it may alter the control of immune response and of inflammation.	Cohort 109/32 patients with IgA nephropathy (n=109), and patients with systemic lupus erythematosus (n=32) 										
133907	N	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Mansur, A. H.  et al. 2002	12100044	A38G			Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			Clinical and experimental allergy. 2002 Jul;32(7):994-9	An association study between the Clara cell secretory protein CC16 A38G polymorphism and asthma phenotypes.		192020	13543	2	2002	 CC16 polymorphism A38G does not influence the predisposition to asthma in this sample.	Case:asthmatics;Control:nonasthmatics										
133901	N	Asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	n	Adra 1999	10450859	Sau96I			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI819219			KCB	7356	Hs.523732			Clinical genetics. 1999 Jun;55(6):431-7			192020	6363	1	1999												
133902	N	asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Gao PS et al. 1998	9737777					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI819219	Japanese	Japan|Great Britain	KGB	7356	Hs.523732			Human genetics. 1998 Jul;103(1):57-9	Negative association between asthma and variants of CC16(CC10) on chromosome 11q13 in British and Japanese populations.		192020	6364	1	1998	These data suggest that CC16 might not be the major locus for asthma on 11q13.											
133904	Y	nephropathy, IgA	IMMUNE	IMM	Glomerulonephritis, IGA	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Matsunaga, A.  et al. 2002	11774099				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			American journal of kidney diseases. 2002 Jan;39(1):36-41	Association of the uteroglobin gene polymorphism with IgA nephropathy.		192020	13540	2	2002	The gene frequency of the G38A mutation in patients was 0.43, not significantly different from the frequency of 0.36 in healthy controls. However, the frequency of patients homozygous for G38A was twice that of controls, and a significant increase was seen in child patients.	Control healthy controls;Case:61 patients with IgA nephropathy (23 children, 38:adults)										
133897	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	P=0.029	Choi M 2000	11193766	A38G (noncoding region of exon 1)			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KCB	7356	Hs.523732			Annals of the New York Academy of Sciences. 2000 ;923:303-6			192020	6359	1	2000												
133898	Y	Asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Laing IA 2000	10619808	A38G (noncoding region of exon 1)	Children with AA genotype have lower SCGB1A1 plasma protein levels than those with GG genotype	5'promoter	secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Caucasian		KCB	7356	Hs.523732			American journal of respiratory and critical care 	Association between plasma CC16 levels, the A38G polymorphism and asthma	3741240	192020	6360	1	2000	38AA genotype associated with reduced plasma SCGB1A1 protein levels and asthma	Case Control										
133899	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	P=0.047	Choi M 2000	11193766	(GTTT)n polymorphism			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KCB	7356	Hs.523732			Annals of the New York Academy of Sciences. 2000 ;923:303-6			192020	6361	1	2000												
133900	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	P=0.029	Choi M 2000	11193766	A38G (noncoding region of exon 1)			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI819219	Dutch		KCB	7356	Hs.523732			Annals of the New York Academy of Sciences. 2000 ;			192020	6362	1	2000												
133894	N	Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	n	Hakonarson H 2001	11739132	G38A			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Icelandic	Iceland	KCB	7356	Hs.523732			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			192020	6356	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
133895		Asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Laing IA 2000	10619808	A38G (noncoding region of exon 1)			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KCB	7356	Hs.523732			American journal of respiratory and critical care medicine. 2000 Jan;161(1):124-7			192020	6357	1	2000	This study provides further evidence for a significant role of the CC16 gene, 38A allele in the development of asthma											
133896	N	Atopy. BHR	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	n	Winterton D 2001	11258696	A38G			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KGB	7356	Hs.523732			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8			192020	6358	1	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.		sulfur dioxide									
133889	Y	asthma	IMMUNE	IMM		11	11q12.3-q13.1	SCGB1A1	61943098	61947243	0.006	Sengler C 2003	12644283	CC16*38A			Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	German		KEW	7356	Hs.523732	degree of airway responsiveness		Behavioural brain research. 2003 Mar;140(2-Jan):97-106			192020	6351	1	2003		Case:206; Control:778										
133890		sarcoidosis	OTHER	OTH	Sarcoidosis, Pulmonary|Disease Progression	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Ohchi T 2004	14551164				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Japanese		KGB	7356	Hs.523732			American journal of respiratory and critical care medicine. 2004 Jan;169(2):180-6	Polymorphism of Clara cell 10-kD protein gene of sarcoidosis.		192020	6352	1	2004	The G38A polymorphism in the CC10 gene may influence protein expression and be associated with the development of progressive sarcoidosis.	Case:223 Japanese sarcoidosis patients with follow-up periods of 3 years or more;Control:258 Japanese controls										
133891	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Laing IA et al. 1998	9643286			5'promoter	secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Caucasian	Western Australia	KGB	7356	Hs.523732			Journal of medical genetics. 1998 Jun;35(6):463-7	A polymorphism of the CC16 gene is associated with an increased risk of asthma.	3741240	192020	6353	1	1998	Data from this study and the known anti-inflammatory role of CC16 in the respiratory tract suggest that alteration to the gene at position 38 may contribute to asthma	Case Control										
133886		cholesterol, HDL; cholesterol, LDL; lathosterol	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Plat, J.  et al. 2002	11952809				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			European journal of clinical investigation. 2002 Apr;32(4):242-50	Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption		601040	27196	2	2002	 These findings suggest that all subjects who want to lower their cholesterol concentration, will benefit from plant stanol ester consumption, irrespective of their apoA-IV, SR-BI, HMG-CoA reductase, CETP, or apoE genotype.	Cohort 112 nonhypercholesterolemic subjects, of whom 70 consumed 3 small middle dot8-4 small middle dot0 g plant stanol esters a day for 8 weeks 	plant stanol esters									
133887	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23-q24	SCD	102096761	102114578		Liew, C. F.  et al. 2004	15662557				Stearoyl-CoA desaturase (delta-9-desaturase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005063.4			CDC GDPinfo	6319	Hs.558396			Diabetologia. 2004 Dec;47(12):2168-75	Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.		604031	19312	2	2004	The present study, the first reported analysis of this gene, indicates that the SCD variants typed do not explain chromosome-10-encoded susceptibility to type 2 diabetes. Although this study provided no evidence that SCD sequence variation influences diabetes susceptibility or related traits, SCD remains a major target for pharmaceutical and/or environmental manipulation.	Control:600:controls;Case:608 diabetic subjects										
133888	Y	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Matsunaga A et al. 2002	11774099				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KGB	7356	Hs.523732			American journal of kidney diseases. 2002 Jan;39(1):36-41	Association of the uteroglobin gene polymorphism with IgA nephropathy.		192020	6350	1	2002	The gene frequency of the G38A mutation in patients was 0.43, not significantly different from the frequency of 0.36 in healthy controls. However, the frequency of patients homozygous for G38A was twice that of controls, and a significant increase was seen in child patients.	Control healthy controls;Case:61 patients with IgA nephropathy (23 children, 38:adults)										
133883		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q24.31	SCARB1	123828128	123914287		Luedecking-Zimmer, E.  et al. 2003	12555245				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):114-7	Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.		601040	25500	2	2003	Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD.	Control:523:controls;Case:564 Alzheimer's disease cases										
133884		obesity	METABOLIC	MET	Obesity, Morbid	12	12q24.31	SCARB1	123828128	123914287		Koumanis, D. J.  et al. 2002	12568179				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			Obesity surgery. 2002 Dec;12(6):759-64	Pilot study examining the frequency of several gene polymorphisms in a morbidly obese population.		601040	25501	2	2002	 These results underscore the relationship between gene polymorphisms and obesity. Obese individuals may differ from non-obese individuals in the gene polymorphisms associated with metabolic control.	Control:102 controls with a BMI < 30 attending a Lipid Clinic;Case:126 individuals with a BMI > 40 in the McGill University Health Centre Bariatric Surgery Program										
133885		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	12	12q24.31	SCARB1	123828128	123914287		Yu, W.  et al. 2002	12417285				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3		Japan	CDC GDPinfo	949	Hs.298813			Atherosclerosis. 2002 Dec;165(2):335-42	Molecular genetic analysis of familial hypercholesterolemia: spectrum and regionaldifference of LDL receptor gene mutations in Japanese population.		601040	26547	2	2002	The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)	Cohort 200 unrelated Japanese patients with clinically diagnosed heterozygous familial hypercholesterolemia 										
133880		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Morabia, A.  et al. 2004	15186961				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3	European		CDC GDPinfo	949	Hs.298813			Atherosclerosis. 2004 Jul;175(1):159-68	Population-based study of SR-BI genetic variation and lipid profile.		601040	19310	2	2004	The allelic frequencies of the common SR-BI variants appear to be very similar in European and North American populations. The HDL-C effect increased with age. SR-BI A350A appears to have gender-specific and age-related effects on cholesterol transport lipoproteins.	Cohort 1,756 untreated adult resident 1999-2000 ;Control:185 non-atherogenic controls;Case:186 atherogenic cases:Geneva, Switzerland										
133881		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	12	12q24.31	SCARB1	123828128	123914287		Rodriguez-Esparragon, F.  et al. 2005	15681296				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			Arteriosclerosis, thrombosis, and vascular biology. 2005 Apr;25(4):854-60	Allelic variants of the human scavenger receptor class B type 1 and paraoxonase 1 on coronary heart disease: genotype-phenotype correlations.		601040	19311	2	2005	 These data suggest a plausible genetic interaction between the CLA-1 exon 8 gene polymorphism and the risk of CHD in males.	Case:304 coronary heart disease cases;Control:315:controls										
133882		diabetes, type 2; lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q24.31	SCARB1	123828128	123914287		Osgood, D.  et al. 2003	12788901				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2869-79	Genetic variation at the scavenger receptor class B type I gene locus determines plasma lipoprotein concentrations and particle size and interacts with type 2 diabetes: the framingham study.		601040	23356	2	2003	In conclusion, SR-BI gene variation modulates the lipid profile, particularly in type 2 diabetes, contributing to the metabolic abnormalities in these subjects.	Case:187 diabetic participants from the Framingham study;Control:2,463 nondiabetic participants										
133877	Y	hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	12	12q24.31	SCARB1	123828128	123914287		Tai, E.  et al. 2003	12519372				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			Clinical genetics. 2003 Jan;63(1):53-8	Polymorphisms at the SRBI locus are associated with lipoprotein levels in subjects with heterozygous familial hypercholesterolemia		601040	13535	2	2003	In agreement with animal studies, our data also suggest a role for the SRBI in the metabolism of apolipoprotein B (apoB)-containing lipoproteins in humans. This pathway may constitute a backup mechanism to LDL receptor-mediated pathways for the catabolism of these lipoproteins, which could be particularly relevant in subjects with high levels of apoB-containing lipoproteins, such as those occurring in patients with FH.	Cohort 77 subjects who were heterozygous for familial hypercholesterolemia 										
133878		cholesterol, LDL	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Perez-Martinez, P.  et al. 2003	12663276	exon 1			Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			The American journal of clinical nutrition. 2003 Apr;77(4):809-13	Polymorphism exon 1 variant at the locus of the scavenger receptor class B type I gene: influenceon plasma LDL cholesterol in healthy subjects during the consumption of diets with different fat contents.		601040	13537	2	2003	 Carriers of the minority allele, 1/2, are more susceptible to the presence of SFA in the diet because of a greater increase in LDL cholesterol.	Cohort 97 healthy volunteers 	diet									
133879		cholesterol, HDL	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Richard, E.  et al. 2005	15910850				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			Atherosclerosis. 2005 Jun;180(2):255-62	Modification of the effects of estrogen therapy on HDL cholesterol levels by polymorphisms of the HDL-C receptor, SR-BI: the Rancho Bernardo Study.		601040	13538	2	2005	 The effect that unopposed estrogen use has on HDL-C may depend on a woman's SR-BI genotype.	Cohort 689 women from the Rancho Bernardo Study 	estrogen									
133874	Y	lipoprotein levels	METABOLIC	MET	Hyperlipoproteinemia Type II	12	12q24.31	SCARB1	123828128	123914287		Tai ES et al. 2003	12519372				scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209436			KGB	949	Hs.298813			Clinical genetics. 2003 Jan;63(1):53-8	Polymorphisms at the SRBI locus are associated with lipoprotein levels in subjects with heterozygous familial hypercholesterolemia.		601040	1178	1	2003												
133875	Y	plasma lipid levels and body mass index	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Acton S et al. 1999	10397692				scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209436	white		KGB	949	Hs.298813			Arteriosclerosis, thrombosis, and vascular biology	Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population.		601040	1179	1	1999												
133876	Y	coronary artery disease	METABOLIC	MET	Coronary Disease	12	12q24.31	SCARB1	123828128	123914287		Hong, S. H.  et al. 2002	12227853				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3	Caucasian		CDC GDPinfo	949	Hs.298813			Annals of clinical biochemistry. 2002 Sep;39(Pt 5):478-81	Association between HaeIII polymorphism of scavenger receptor class B type I gene and plasma HDL-cholesterol concentration.		601040	13534	2	2002	 Allele frequencies of the AluI and ApaI polymorphisms in this study were different to those in a Caucasian population studied previously, suggesting a difference in the genetic background. Further comparative studies of SR-BI polymorphism in other racial or ethnic groups should therefore prove to be of value.	Control:124 age-matched controls;Case:137 Korean coronary artery disease subjects										
133871	Y	lung cancer	CANCER	CAN	Lung Neoplasms	X	Xp22.1	SAT	23711225	23714246		Mank-Seymour AR et al. 1998	9717831				Spermidine/spermine N1-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002970.1			KGB	6303	Hs.28491			Clinical cancer research. 1998 Aug;4(8):2003-8	Two active copies of the X-linked gene spermidine/spermine N1-acetyltransferase (SSAT) in a female lung cancer cell line are associated with an increase in sensitivity to an antitumor polyamine analogue.		313020	5316	1	1998												
133872		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q33	SATB2	199842468	200038076			16327884				SATB family member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015265.1			CDC GDPinfo	23314	Hs.516617			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		608148	27828	2	2005												
133873	Y	plasma HDL-cholesterol	METABOLIC	MET	Coronary Disease	12	12q24.31	SCARB1	123828128	123914287		Hong SH et al. 2002	12227853				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			KGB	949	Hs.298813			Annals of clinical biochemistry. 2002 Sep;39(Pt 5):478-81	Association between HaeIII polymorphism of scavenger receptor class B type I gene and plasma HDL-cholesterol concentration.		601040	1177	1	2002	 Allele frequencies of the AluI and ApaI polymorphisms in this study were different to those in a Caucasian population studied previously, suggesting a difference in the genetic background. Further comparative studies of SR-BI polymorphism in other racial or ethnic groups should therefore prove to be of value.	Control:124 age-matched controls;Case:137 Korean coronary artery disease subjects										
133866	N	psoriasis	IMMUNE	IMM	Psoriasis	1	1q21	S100A2	151800208	151804930		Stoll, S. W.  et al. 2001	11260185				S100 calcium binding protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005978.3			CDC GDPinfo	6273	Hs.516484			Clinical and experimental dermatology. 2001 Jan;26(1):79-83	S100A2 coding sequence polymorphism:characterization and lack of association with psoriasis		176993	13527	2	2001	Our data explain conflicting results in the literature regarding the sequence of S100A2 but provide no support for a direct causal role for S100A2 in psoriasis.	Control:38 unrelated normal individuals;Case:40 unrelated psoriatic individuals										
133868	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	21	21q22.3	S100B	46842958	46849463		Liu, J.  et al. 2005	15670788				S100 calcium binding protein, beta (neural)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006272.1		China	CDC GDPinfo	6285	Hs.422181			Biochemical and biophysical research communications. 2005 Mar;328(1):335-41	SNPs and haplotypes in the S100B gene reveal association with schizophrenia.		176990	19300	2	2005	Our results suggest that S100B could be a susceptible gene for schizophrenia and provide indirect evidence for the GGF/SD hypothesis.	Case:384 Chinese Han schizophrenia cases;Control:401:controls										
133869		amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1-p14	SAA2	18223364	18226744		Bakkaloglu, A.  et al. 2004	15170927				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030754.2	Turkish	Turkey	CDC GDPinfo	6289	Hs.1955			The Journal of rheumatology. 2004 Jun;31(6):1139-42	Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population.		104751	23351	2	2004	 SAA1a/a genotype is one genetic factor that confers a significant risk for amyloidosis in the Turkish FMF population. Neither the SAA1 nor SAA2 genotypes had a significant effect on SAA level.	Cohort 74 patients with Familial Mediterranean Fever (39 female, 35 male; median age 11.5 yrs, range 1.0-23.0) 										
133863		malignant hyperthermia	OTHER	OTH	Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Sei, Y.  et al. 2004	15448513				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			CDC GDPinfo	6261	Hs.466664			Anesthesiology. 2004 Oct;101(4):824-30	Malignant hyperthermia in North America: geneticscreening of the three hot spots in the type I ryanodine receptor gene.		180901	19298	2	2004	 The detection rate for mutations is only 23% by screening mutations (or exons) listed in the 2002 North American consensus panel. The implications from this study suggest that testing the central region first is currently the most effective screening strategy for the North American population. Screening more exons in the three hot spots may be needed to find an accurate frequency of mutations in the RyR1 gene.	Cohort 124 unrelated patients with malignant hyperthermia susceptibility 										
133864		long QT syndrome	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Long QT Syndrome|Tachycardia, Ventricular|Ventricular Fibrillation|Genetic Predisposition to Disease	1	1q42.1-q43	RYR2	235272324	236063911		Tester, D. J.  et al. 2005	16188589				Ryanodine receptor 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035.1			CDC GDPinfo	6262	Hs.109514			Heart rhythm. 2005 Oct;2(10):1099-105	Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.		180902	19299	2	2005	 Putative pathogenic CPVT1-causing mutations in RyR2 were detected in 6% of unrelated, genotype-negative LQTS referrals. These findings suggest that CPVT may be underrecognized among physicians referring patients because of a suspected channelopathy. A diagnosis of atypical LQTS may warrant consideration of CPVT and analysis of RyR2 if the standard cardiac channel gene screen for LQTS is negative.											
133865	N	Psoriasis	IMMUNE	IMM	Psoriasis	1	1q21	S100A2	151800208	151804930	n	Stoll SW 2001	11260185	A/G (Asn62Ser) polymorphism at nucleoride 185			S100 calcium binding protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005978.3			KGB	6273	Hs.516484			Clinical and experimental dermatology. 2001 Jan;26(1):79-83	S100A2 coding sequence polymorphism:characterization and lack of association with psoriasis		176993	5311	1	2001	Our data explain conflicting results in the literature regarding the sequence of S100A2 but provide no support for a direct causal role for S100A2 in psoriasis.	Control:38 unrelated normal individuals;Case:40 unrelated psoriatic individuals										
133859		malignant hyperthermia	OTHER	OTH	Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Loke JC 2003	12883402				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Anesthesiology. 2003 Aug;99(2):297-302	Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.		180901	5308	1	2003	 The feasibility of using complete RYR1 transcripts from leukocytes for sequence analysis offers an efficient and noninvasive method for scanning RYR1 for novel mutations.											
133860	Y	Adult onset multi/minicore myopathy	OTHER	OTH	Muscular Diseases	19	19q13.1	RYR1	43616179	43770044		Pietrini V 2004	14999498	C1201T; R401C			Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Journal of neurology. 2004 Jan;251(1):102-4	Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.		180901	5309	1	2004												
133862		hyperthermia, malignant	OTHER	OTH	Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Rueffert, H.  et al. 2002	12059893				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			CDC GDPinfo	6261	Hs.466664			Acta anaesthesiologica Scandinavica. 2002 Jul;46(6):692-8	Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results:identification of three novel mutations.		180901	19297	2	2002	 The ascertained high rate of successful MH mutation screening (69.64%) is obviously associated with the more clearly defined MHS diagnosis in the IVCT. According to the EMHG guidelines for the molecular genetic detection of MH susceptibility, a positive MH disposition could be determined in numerous persons by a less invasive technique.	Cohort 56 malignant hyperthermia index patients 										
133855	Y	malignant hyperthermia	OTHER	OTH	Genetic Predisposition to Disease|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Sambuughin N et al. 2001	11389482				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			American journal of human genetics. 2001 Jul;69(1):204-8	Single-amino-acid deletion in the RYR1 gene associated with malignant hyperthermia susceptibility and unusual contraction phenotype.		180901	5304	1	2001												
133856		central core disease	OTHER	OTH	Myopathy, Central Core	19	19q13.1	RYR1	43616179	43770044		Tilgen N et al. 2001	11741831				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664	alteration of calcium homeostasis		Human molecular genetics. 2001 Dec;10(25):2879-87	Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.		180901	5305	1	2001												
133858	Y	fetal akinesia	OTHER	OTH	Myopathy, Central Core|Movement Disorders|Fetal Diseases|Abnormalities, Multiple|Syndrome	19	19q13.1	RYR1	43616179	43770044		Romero NB 2003	12937085				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Brain. 2003 Nov;126(Pt 11):2341-9	Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.		180901	5307	1	2003												
133852		malignant hyperthermia	OTHER	OTH	Myopathies, Nemaline|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Quane KA et al. 1994	7829078				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664	associated central cores.		Genomics. 1994 Sep;23(1):236-9	Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.		180901	5301	1	1994												
133853	Y	malignant hyperthermia	OTHER	OTH	Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Phillips MS et al. 1994	7881417				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Human molecular genetics. 1994 Dec;3(12):2181-6	The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.		180901	5302	1	1994												
133854	N	neuroleptic malignant syndrome	OTHER	OTH	Neuroleptic Malignant Syndrome|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044	n	Miyatake R et al. 1996	8981316	C7278T			Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Journal of the neurological sciences. 1996 Nov;143(2-Jan):161-5	No association between the neuroleptic malignant syndrome and mutations in the RYR1 gene associated malignant hyperthermia.		180901	5303	1	1996												
133848	N	schizophrenia; alcohol dependence	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	RXRB	33269342	33276410		Ishiguro, H.  et al. 2002	11840500				Retinoid X receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021976.3		Japan	CDC GDPinfo	6257	Hs.388034			American journal of medical genetics. 2002 Jan;114(1):15-23	Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: Possiblehaplotype association of nuclear-related receptor 1 gene to alcohol		180246	23348	2	2002	Extended case control samples did not suggest an association between the diseases and the RXRB or PPARA polymorphisms. However, they revealed a significant association between the NR4A2 gene haplotype and alcohol dependence, indicating that 2q22--q23 including the NR4A2 gene locus is a possible genomic region contributing to genetic susceptibility to alcohol dependence.	Control not specified in abstract;Case:32 patients with alcohol dependence;Case:48 Japanese patients with schizophrnia										
133849	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	6	6p21.3	RXRB	33269342	33276410		Feng, J.  et al. 2005	15635645				Retinoid X receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021976.3			CDC GDPinfo	6257	Hs.388034			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180246	27609	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
133850	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q22-q23	RXRG	163636973	163681054		Wang H et al. 2002	12175776				Retinoid X receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006917.3			KGB	6258	Hs.26550			Molecular genetics and metabolism. 2002 May;76(1):14-22	Mutation screening and association of human retinoid X receptor gamma variation with lipid levels in familial type 2 diabetes.		180247	5300	1	2002												
133845	Y	bone size	DEVELOPMENTAL	DEV		6	6p21	RUNX2	45404031	45626797		Ermakov, S.  et al. 2005	16198163				Runt-related transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024630			CDC GDPinfo	860	Hs.535845			Bone. 2006 Feb;38(2):199-205	Variation in femoral length is associated with polymorphisms in RUNX2 gene.		600211	13526	2	2005	 For the first time, the evidence of association between RUNX2 polymorphisms and FEML was provided. The results of the present research contribute to the deeper understanding of the genetic architecture of femoral size and introduce the issues of site and sex dependency of the extent of RUNX2 effect. Further studies are required to confirm our findings, specifically focused on clinically oriented sites of skeleton, like femoral neck.											
133846	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	9	9q34.3	RXRA	136358230	136472252		Feng, J.  et al. 2005	15635645				Retinoid X receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002957.3			CDC GDPinfo	6256	Hs.590886			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180245	27195	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
133847	Y	schizophrenia	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	RXRB	33269342	33276410		Ishiguro H et al. 2002	11840500				Retinoid X receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021976.3		Japan	KGB	6257	Hs.388034			American journal of medical genetics. 2002 Jan;114(1):15-23	Mutation analysis of the retinoid X receptor beta nuclear-related receptor 1 and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: possible haplotype association of nuclear-related receptor 1 gene to alcohol		180246	5299	1	2002	Extended case control samples did not suggest an association between the diseases and the RXRB or PPARA polymorphisms. However, they revealed a significant association between the NR4A2 gene haplotype and alcohol dependence, indicating that 2q22--q23 including the NR4A2 gene locus is a possible genomic region contributing to genetic susceptibility to alcohol dependence.	Control not specified in abstract;Case:32 patients with alcohol dependence;Case:48 Japanese patients with schizophrnia										
133842	Y	bone mineral density	METABOLIC	MET	Fractures, Bone	6	6p21	RUNX2	45404031	45626797		Vaughan T et al. 2002	12162506				Runt-related transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024630			KGB	860	Hs.535845			Journal of bone and mineral research. 2002 Aug;17(8):1527-34	Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.		600211	1060	1	2002	The A allele was associated with increased BMD and was protective against a common form of osteoporotic fracture, suggesting that RUNX2 variants may be related to genetic effects on BMD and osteoporosis.	Cohort 495 randomly selected women of the Geelong Osteoporosis Study										
133843	Y	bone density	METABOLIC	MET	Fractures, Bone	6	6p21	RUNX2	45404031	45626797		Vaughan, T.  et al. 2002	12162506				Runt-related transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024630			CDC GDPinfo	860	Hs.535845			Journal of bone and mineral research. 2002 Aug;17(8):1527-34	Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.		600211	13524	2	2002	The A allele was associated with increased BMD and was protective against a common form of osteoporotic fracture, suggesting that RUNX2 variants may be related to genetic effects on BMD and osteoporosis.	Cohort 495 randomly selected women of the Geelong Osteoporosis Study 										
133844	Y	bone density	METABOLIC	MET		6	6p21	RUNX2	45404031	45626797		Vaughan, T.  et al. 2004	15193550				Runt-related transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024630	Scottish		CDC GDPinfo	860	Hs.535845			Bone. 2004 Jun;34(6):1029-36	RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index.		600211	13525	2	2004	These data suggest that the RUNX2 alleles are associated with BMD in a menopause- and weight-dependent manner.	Cohort 991 women from a Scottish cohort Scotland 	body mass									
133839		psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis	21	21q22.3	RUNX1	35081967	36278917		Huffmeier, U.  et al. 2005	15654961				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3		Germany	CDC GDPinfo	861	Hs.149261			The Journal of investigative dermatology. 2005 Jan;124(1):107-10	Lack of Evidence for Genetic Association to RUNX1 Binding Site at PSORS2 in Different German Psoriasis Cohorts		151385	19293	2	2005	These results fail to support rs734232 as a psoriasis susceptibility factor in German psoriasis patients.	Control controls from from two case-control studies;Case:281/375 patients with psoriasis vulgaris 9N=281) and patients with prosiatic arthritis (n=375) from two case-control studies										
133841		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	21	21q22.3	RUNX1	35081967	36278917		Zhu, Y. L.  et al. 2005	15968309				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			CDC GDPinfo	861	Hs.149261			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		151385	27194	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
133836		schizophrenia	PSYCH	PSY	Schizophrenia	2	2p16.3	RTN4	55052830	55131238		Covault, J.  et al. 2004	14741411				Reticulon 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020532.4			CDC GDPinfo	57142	Hs.429581			Brain research  Molecular brain research. 2004 Jan;120(2):197-200	Nogo 3'-untranslated region CAA insertion: failureto replicate association with schizophrenia and demonstration of marked population difference in frequency of the insertion.		604475	19291	2	2004	We found a similar frequency of the CAA insertion for patients and controls in both populations, but a large difference in CAA insertion frequency between the two racial groups.	Case:20 African American schizophrenic cases;Control:243 European American controls;Control:52 African American controls;Case:57 European American subjects with schizophrenia										
133837		schizophrenia	PSYCH	PSY	DiGeorge Syndrome|Schizophrenia	22	22q11.21	RTN4R	18608937	18635816		Sinibaldi, L.  et al. 2004	15532024				Reticulon 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023004.5		Italy	CDC GDPinfo	65078	Hs.30868			Human mutation. 2004 Dec;24(6):534-5	Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.		605566	19292	2	2004	The two schizophrenic patients with the missense changes were strongly resistant to the neuroleptic treatment at any dosage. Both missense changes were absent in 300 control subjects. Molecular modeling revealed that both changes lead to putative structural alterations of the native protein.	Case:120 unrelated Italian schizophrenic patients;Control:300 control subjects										
133838		leukemia	OTHER	OTH	Leukemia, Myeloid|Myelodysplastic Syndromes|Genetic Predisposition to Disease	21	21q22.3	RUNX1	35081967	36278917		Harada H 2004	14615365				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			KGB	861	Hs.149261			Blood. 2004 Mar;103(6):2316-24	High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia.		151385	1061	1	2004												
133833	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2p16.3	RTN4	55052830	55131238		Xiong, L.  et al. 2005	15661375				Reticulon 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020532.4			CDC GDPinfo	57142	Hs.429581			Brain research  Molecular brain research. 2005 Jan;133(1):153-6	CAA insertion polymorphism in the 3'UTR of Nogo gene on 2p14 is not associated with schizophrenia.		604475	13521	2	2005	The homozygous CAA(ins) frequency is not significantly different between patients and controls either (18.0% vs. 15.0%, chi(2)=0.985, p>0.1). Furthermore, neither CAA(ins)/TATC(del) individually, nor the haplotype carrying both CAA(ins) and TATC(del) is preferentially transmitted to affected offspring.	Control:153 Caucasian controls;Case:462 unrelated Caucasian schizophrenia cases										
133834	N	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	2	2p16.3	RTN4	55052830	55131238		Gregorio, S. P.  et al. 2005	15820318				Reticulon 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020532.4		Brazil	CDC GDPinfo	57142	Hs.429581			Schizophrenia research. 2005 Jun;75(1):9-May	Nogo CAA 3'UTR Insertion polymorphism is not associated with Schizophrenia nor with bipolar disorder.		604475	13522	2	2005	Our results indicate that the polymorphism is not associated with any of these diseases, but has a remarkably biased distribution in ethnic groups. Genotyping of primate samples, suggest that this polymorphism is a recent event in human speciation.	Control normal controls;Case patients with schizophrenia, bipolar disorder										
133835	Y	schizophrenia	PSYCH	PSY	Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	2	2p16.3	RTN4	55052830	55131238		Tan, E. C.  et al. 2005	15953657				Reticulon 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020532.4			CDC GDPinfo	57142	Hs.429581			Brain research Molecular brain research. 2005 Oct;139(2):212-6	Gender-specific association of insertion/deletion polymorphisms in the nogo gene and chronic schizophrenia.		604475	13523	2	2005												
133829	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q22	RRAD	65513088	65516920	n	Orho M et al. 1996	8603763				Ras-related associated with diabetes	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004165.1		Finland	KGB	6236	Hs.1027			Diabetes. 1996 Apr;45(4):429-33	Polymorphism at the rad gene is not associated with NIDDM in Finns.		179503	5297	1	1996												
133830		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8q23.1	RRM2B	103285906	103320522		Deng, Z. L.  et al. 2005	16127747				Ribonucleotide reductase M2 B (TP53 inducible)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015713.3			CDC GDPinfo	50484	Hs.512592			World journal of gastroenterology. 2005 Sep;11(33):5169-73	Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls.		604712	19286	2	2005	 Although more detailed functional characterizations of these polymorphisms remain to be undertaken, these polymorphic sites may be useful for identifying alleles associated with mis-splicing, additional transcript factors and, more generally, in cancer-susceptibility association studies.											
133831	Y	X linked juvenile retinoschisis	VISION	VIS	Retinoschisis	X	Xp22.2-p22.1	RS1	18567728	18600150		Simonelli F 2003	12928282				Retinoschisis (X-linked, juvenile) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000330.2	Italian	Italy	KGB	6247	Hs.584800			The British journal of ophthalmology. 2003 Sep;87(9):1130-4	Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.			5298	1	2003	 The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.											
133825		retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa|Genetic Diseases, X-Linked	X	Xp11.4	RPGR	38013366	38071732		Sharon, D.  et al. 2003	14564670				Retinitis pigmentosa GTPase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000328.2			CDC GDPinfo	6103	Hs.61438			American journal of human genetics. 2003 Nov;73(5):1131-46	RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.		312610	23347	2	2003	Patients with RP2 mutations had, on average, lower visual acuity but similar visual field area, final dark-adapted threshold, and 30-Hz ERG amplitude compared with those with RPGR mutations. Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14. Among patients with ORF15 mutations, regression analyses showed that the final dark-adapted threshold became lower (i.e., closer to normal) and that the 30-Hz ERG amplitude increased as the length of the wild-type ORF15 amino acid sequence increased. Furthermore, as the length of the abnormal amino acid sequence following ORF15 frameshift mutations increased, the severity of disease increased.	Cohort 187 unrelated male patients with X-linked retinitis pigmentosa 										
133826	Y	recessive cone-rod dystrophy	OTHER	OTH	Retinitis Pigmentosa	14	14q11	RPGRIP1	20825975	20889300		Hameed A 2003	12920076				Retinitis pigmentosa GTPase regulator interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020366.2			KGB	57096	Hs.126035			Journal of medical genetics. 2003 Aug;40(8):616-9	Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.		605446	6786	1	2003												
133827	Y	Coffin-Lowry syndrome.	DEVELOPMENTAL	DEV	Mental Retardation|Abnormalities, Multiple|Sex Chromosome Aberrations|	X	Xp22.2-p22.1	RPS6KA3	20077949	20194671		Trivier E et al. 1996	8955270				ribosomal protein S6 kinase, 90kDa, polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004586.2			KGB	6197	Hs.433512			Nature. 1996 Dec;384(6609):567-70	Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.		300075	5295	1	1996												
133821		retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa|Genetic Diseases, X-Linked	X	Xp11.4-p11.21	RP2	46581318	46626735		Sharon, D.  et al. 2003	14564670				Retinitis pigmentosa 2 (X-linked recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006915.1			CDC GDPinfo	6102	Hs.44766			American journal of human genetics. 2003 Nov;73(5):1131-46	RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.		312600	19284	2	2003	Patients with RP2 mutations had, on average, lower visual acuity but similar visual field area, final dark-adapted threshold, and 30-Hz ERG amplitude compared with those with RPGR mutations. Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14. Among patients with ORF15 mutations, regression analyses showed that the final dark-adapted threshold became lower (i.e., closer to normal) and that the 30-Hz ERG amplitude increased as the length of the wild-type ORF15 amino acid sequence increased. Furthermore, as the length of the abnormal amino acid sequence following ORF15 frameshift mutations increased, the severity of disease increased.	Cohort 187 unrelated male patients with X-linked retinitis pigmentosa 										
133822	Y	coronary spastic angina.	CARDIOVASCULAR	CARD	Angina Pectoris|Myocardial Infarction	17	17p13.3	RPA1	1680094	1748120		Miyamoto Y et al. 2000	11063722				Replication protein A1, 70kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002945.2			KGB	6117	Hs.461925			Human molecular genetics. 2000 Nov;9(18):2629-37	Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T-->C mutation associated with coronary spastic angina.		179835	5294	1	2000												
133824	N	retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa|Genetic Diseases, X-Linked	X	Xp11.4	RPGR	38013366	38071732		Jacobi, F. K.  et al. 2005	16273303				Retinitis pigmentosa GTPase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000328.2			CDC GDPinfo	6103	Hs.61438			International journal of molecular medicine. 2005 Dec;16(6):1175-8	Mutational risk in highly repetitive exon ORF15 of the RPGR multidisease gene is not associated with haplotype background.		312610	19285	2	2005												
133818		retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	8	8q11-q13	RP1	55634297	55801525		Zhang, X.  et al. 2002	12048676				Retinitis pigmentosa 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006269.1	Chinese	China	CDC GDPinfo	6101	Hs.512441			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):194-7	[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]		603937	19282	2	2002	 The nonpathogenicity of R1933X indicates that the C-terminal 224 residues of RP1 protein may be not critical for RP1. Recently, a C-termnal truncating mutation, Y1053(1 bp del), was reported to occur in an RP patient. Thus RP can be caused by lack of the region of RP1 protein after codon 1052 but before 1933. To confirm such a proposition, a large genotyping study is necessary and is likely to reveal more RP causative mutations and uncover more sequence alterations different from those of other ethnic groups.	Case:101 Chinese retinitis pigmentosaHong Kong patients										
133819	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	8	8q11-q13	RP1	55634297	55801525		Fujita, Y.  et al. 2003	12764676				Retinitis pigmentosa 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006269.1			CDC GDPinfo	6101	Hs.512441			Journal of human genetics. 2003 ;48(6):305-8	Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene		603937	19283	2	2003	Although this SNP marker may itself be in linkage disequilibrium with other unexamined functional variants within this locus, our data suggest that genetic variation at the RP1 locus is one of the likely candidate determinants for plasma triglyceride and HDL-cholesterol metabolisms.	Cohort 332 adult individuals east-central Japan 										
133820		retinitis pigmentosa	OTHER	OTH	Retinitis Pigmentosa	8	8q11-q13	RP1	55634297	55801525		Wang, D. Y.  et al. 2005	16185528				Retinitis pigmentosa 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006269.1	Chinese		CDC GDPinfo	6101	Hs.512441			Zhonghua yi xue za zhi. 2005 Jun;85(23):1613-7	[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]		603937	23346	2	2005	 The prevalences of RHO and RP1 mutations among the RP patients in Chinese population are both less than reported in other populations. Besides the disease-causing mutations, non-coding sequence alterations may also be a modifier for RP. The potential interactions between RHO and RP1 suggest a digenic etiology for RP.											
133814	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	ROM1	62137198	62139164	n	Adra 1999	10450859	MseI			Retinal outer segment membrane protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000327.2			KCB	6094	Hs.281564			Clinical genetics. 1999 Jun;55(6):431-7			180721	5290	1	1999												
133815	Y	retinitis pigmentosa.	OTHER	OTH	Retinitis Pigmentosa	11	11q13	ROM1	62137198	62139164		Martinez-Mir A et al. 1997	9187681				Retinal outer segment membrane protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000327.2			KGB	6094	Hs.281564			Human genetics. 1997 Jun;99(6):827-30	Putative association of a mutant ROM1 allele with retinitis pigmentosa.		180721	5291	1	1997												
133816	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q22	ROS1	117716222	118030374		Shiffman, D.  et al. 2005	16175505			coding sequence	V-ros UR2 sarcoma virus oncogene homolog 1 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002944.2			CDC GDPinfo	6098	Hs.1041			American journal of human genetics. 2005 Oct;77(4):596-605	Identification of four gene variants associated with myocardial infarction.	rs619203, rs529038	165020	23345	2	2005												
133817	Y	retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	8	8q11-q13	RP1	55634297	55801525		Schwartz SB 2003	12882812				Retinitis pigmentosa 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006269.1			KGB	6101	Hs.512441			Investigative ophthalmology & visual science. 2003 Aug;44(8):3593-7	De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.		603937	5292	1	2003	 The de novo origin of an RP1 (Arg677ter) mutation in a patient with simplex RP suggests that this common autosomal dominant RP mutation can arise independently in the population and supports the hypothesis of a mutational hotspot in the RP1 gene.											
133811	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Rennert, H.  et al. 2005	15824169				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	European American, African American	Philadelphia	CDC GDPinfo	6041	Hs.518545			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):949-57	Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.		180435	25497	2	2005	Therefore, MSR1 and RNASEL may play a role in prostate cancer progression and severity.	Control:473/163 European American (n=473) and African American:(n=163) controls;Case:888/131 European American (n=888) and African American (n=131) prostate cancer cases	family history									
133812		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Maier, C.  et al. 2005	15714208				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	German		CDC GDPinfo	6041	Hs.518545			British journal of cancer. 2005 Mar;92(6):1159-64	Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene.		180435	25498	2	2005	Our results are not consistent with a high penetrance of deleterious RNASEL mutations. Due to the low frequency of germline mutations present in our sample, RNASEL does not have a significant impact on prostate cancer susceptibility in the German population.	Control:207:controls;Case:227 prostate cancer patients										
133813		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	11	11p15.5	RNH1	484511	497273		Vogel, U.  et al. 2005	15936590				ribonuclease/angiogenin inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002939.3	Caucasian	Denmark	CDC GDPinfo	6050	Hs.530687			Cancer detection and prevention. 2005 ;29(3):209-14	Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50.		173320	26545	2	2005	While it cannot be ruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma.	Case:322 basal cell carcinoma cases nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion) Copenhagen and Aarhus, Denmark;Control:322 controls nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion)										
133808	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25	RNASEL	180809394	180825014		Wiklund, F.  et al. 2004	15534086				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDPinfo	6041	Hs.518545			Clinical cancer research. 2004 Nov;10(21):7150-6	Genetic analysis of the RNASEL gene in hereditary, familial, and sporadic prostate cancer.		180435	19280	2	2004	 Considering the high quality in genotyping and the size of this study, these results provide solid evidence against a major role of RNASEL in prostate cancer etiology in Sweden.	Case:1,624 prostate cancer cases:Sweden;Control:801 unaffected controls										
133809	Y	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	1	1q25	RNASEL	180809394	180825014		Bartsch, D. K.  et al. 2005	15981205				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDPinfo	6041	Hs.518545			International journal of cancer. Journal international du cancer. 2005 Dec;117(5):718-22	RNASEL germline variants are associated with pancreatic cancer.		180435	19281	2	2005												
133810		West Nile virus	INFECTION	INF	West Nile Fever|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Yakub, I.  et al. 2005	16235172				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDPinfo	6041	Hs.518545			The Journal of infectious diseases. 2005 Nov;192(10):1741-8	Single Nucleotide Polymorphisms in Genes for 2'-5'-Oligoadenylate Synthetase and RNase L in Patients Hospitalized with West Nile Virus Infection.		180435	23344	2	2005	 Because the reference allele contains a splice enhancer site, our finding suggests that the RNA transcripts generated from this allele may undergo increased splicing, which results in a dominant-negative OASL isozyme similar to the nonsense/truncation mutant form of Oas1b in mice.											
133805		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25	RNASEL	180809394	180825014		Rokman, A.  et al. 2002	11941539				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Finnish	Finland	CDC GDPinfo	6041	Hs.518545			American journal of human genetics. 2002 May;70(5):1299-304	Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer.		180435	19277	2	2002	We conclude that , although RNASEL mutations do not explain disease segregation in Finnish families with HPC, the variants are enriched in families with HPC that include more than two affected members and may also be associated with the age at disease onset. This suggests a possible modifying role in cancer predisposition. The impact that the RNASEL sequence variants have on PRCA burden at the population level seems small but deserves further study.	Control:223/566 patients with benign prostatic hyperplasia (n=223), and controls (n=566);Case:492 patients with unselected prostate cancer:Finland										
133806	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Rennert, H.  et al. 2002	12145743				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDPinfo	6041	Hs.518545			American journal of human genetics. 2002 Oct;71(4):981-4	A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews.		180435	19278	2	2002	Taken together, these data suggest that the 471delAAAG null mutation is associated with PRCA in Ashkenazi men. However, additional studies are required to determine whether this mutation confers increased risk for PRCA in this population.	Control:controls;Case:134 non-Ashkenazi patients with prostate cancer:Cohort:150 healthy Ashkenazi young women										
133807	N	breast cancer	CANCER	CAN	Breast Neoplasms	1	1q25	RNASEL	180809394	180825014		Sevinc, A.  et al. 2004	15330212				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDPinfo	6041	Hs.518545			Anticancer research. 2004 Jul-Aug;24(4):2547-9	Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer.		180435	19279	2	2004	 Although an increasing number of studies report an association between the RNASEL G1385A variant and prostate cancer risk; this variant does not appear to be implicated in the development of breast cancer.	Control:382 age- and sex-matched controls;Case:453 breast cancer patients Greece and Turkey										
133802	Y		CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Nakazato H 2003	12915880				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Japanese	Japan	KGB	6041	Hs.518545			British journal of cancer. 2003 Aug;89(4):691-6	Role of genetic polymorphisms of the RNASEL gene on familial prostate cancer risk in a Japanese population.		180435	5288	1	2003	These findings suggested that the polymorphic changes within the RNASEL gene may be associated with familial prostate cancer risk in a Japanese population.	Case:101 Japanese familial prostate cancer cases;Control:105 noncancer controls										
133803	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25	RNASEL	180809394	180825014		Kotar, K.  et al. 2003	12624151	471delAAAG			Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Jewish		CDC GDPinfo	6041	Hs.518545			Journal of medical genetics. 2003 Mar;40(3):e22	The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men.		180435	13515	2	2003	The results do not suggest that this variant is associated with a greatly increased risk of prostate cancer, which might be expected to occur if RNASEL is a candidate prostate cancer susceptibility gene within the linked HPC1 region. These observations are preliminary. Very large sample sizes are required to exclude small relative risks when the allele frequency is low. This is a significant impediment to robust replication studies.	Case:122 unselected Ashkenazi Jewish men with prostate:cancer:Montreal, Canada;Control:233/105 elderly Ashkenazi Jewish men from Israel (n=233) and Montreal (n=105) without prostate cancer										
133804	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Nakazato, H.  et al. 2003	12915880				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Japanese	Japan	CDC GDPinfo	6041	Hs.518545			British journal of cancer. 2003 Aug;89(4):691-6	Role of genetic polymorphisms of the RNASEL gene on familial prostate cancer risk in a Japanese population		180435	13516	2	2003	These findings suggested that the polymorphic changes within the RNASEL gene may be associated with familial prostate cancer risk in a Japanese population.	Case:101 Japanese familial prostate cancer cases;Control:105 noncancer controls										
133798		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Metastasis	14	14q11.2	RNASE1	20339354	20340876		Noonan-Wheeler, F. C.  et al. 2005	16114055				Ribonuclease, RNase A family, 1 (pancreatic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198235.1		United States	CDC GDPinfo	6035	Hs.78224			The Prostate. 2006 Jan;66(1):49-56	Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.		180440	25496	2	2005	 These results suggest that, in a European-American population, ELAC2 217L and RNASEL 541E are associated with metastatic sporadic disease. ELAC2 and RNASEL SNP analysis may prove useful in determining which patients are at risk for developing clinically significant prostate carcinoma.											
133800		asthma	IMMUNE	IMM	Hypersensitivity	14	14q24-q31	RNASE3	20429401	20430347		Jonsson, U. B.  et al. 2002	12100059				Ribonuclease, RNase A family, 3 (eosinophil cationic protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002935.2			CDC GDPinfo	6037	Hs.73839			Clinical and experimental allergy. 2002 Jul;32(7):1092-5	Polymorphism of the eosinophil cationic protein-gene is related to the expression of allergic symptoms.		131398	13513	2	2002	 The 434(G > C) polymorphism in the ECP-gene is related to the development of allergic symptoms, suggesting a central role for the ECP molecule in the process.	Control:208 medical students;Case:76 asthmatic subjects										
133801		tropical pulmonary eosinophilia	UNKNOWN	UNK	Filariasis|Pulmonary Eosinophilia	14	14q24-q31	RNASE3	20429401	20430347		Kim, Y. J.  et al. 2005	16014847				Ribonuclease, RNase A family, 3 (eosinophil cationic protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002935.2		United States|India	CDC GDPinfo	6037	Hs.73839			The American journal of tropical medicine and hygiene. 2005 Jul;73(1):125-30	Genetic polymorphisms of eosinophil-derived neurotoxin and eosinophil cationic protein in tropical pulmonary eosinophilia.		131398	23343	2	2005												
133794		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Zhang, F.  et al. 1998	12579739				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2	Chinese		CDC GDPinfo	6010	Hs.247565			Yan ke xue bao. 1998 Dec;14(4):210-4	[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa]		180380	23342	2	1998	 Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.	Cohort 83 Chinese patients with retinitis pigmentosa 										
133796	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q11.2	RNASE1	20339354	20340876		Wang, L.  et al. 2002	12022038				Ribonuclease, RNase A family, 1 (pancreatic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198235.1			CDC GDPinfo	6035	Hs.78224			American journal of human genetics. 2002 Jul;71(1):116-23	Analysis of the RNASEL gene in familial and sporadic prostate cancer.		180440	19275	2	2002	These results suggest that polymorphic changes within the RNASEL gene may be associated with increased risk of familial but not sporadic PC.	Case:438 patients with familial prostate cancer;Control:510 population-based control subjects										
133797		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Prostatic Neoplasms|Genetic Predisposition to Disease	14	14q11.2	RNASE1	20339354	20340876		Kruger, S.  et al. 2005	16054567				Ribonuclease, RNase A family, 1 (pancreatic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198235.1			CDC GDPinfo	6035	Hs.78224			The lancet oncology. 2005 Aug;6(8):566-72	Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.		180440	19276	2	2005												
133791		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Zhang, Q.  et al. 1999	12579668				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2	Chinese		CDC GDPinfo	6010	Hs.247565			Yan ke xue bao. 1999 Dec;15(4):204-6, 235	[Genotype-phenotype correlation in Chinese patients with retinitis pigmentosa due to rhodopsin mutation]		180380	19271	2	1999	 Although there is a certain relation between the mutant rhodopsin and ocular manifestation, we need to accumulate more materials before relating a rhodopsin mutation to a specific phenotype.	Cohort 83 patients with retinitis pigmentosa 										
133792	Y	retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Wang, D. Y.  et al. 2005	16185528				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2	Chinese		CDC GDPinfo	6010	Hs.247565			Zhonghua yi xue za zhi. 2005 Jun;85(23):1613-7	[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong]		180380	19273	2	2005	 The prevalences of RHO and RP1 mutations among the RP patients in Chinese population are both less than reported in other populations. Besides the disease-causing mutations, non-coding sequence alterations may also be a modifier for RP. The potential interactions between RHO and RP1 suggest a digenic etiology for RP.											
133793		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Rakoczy, P.  et al. 1995	11980072				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2	Australian	Western Australia	CDC GDPinfo	6010	Hs.247565			Australian and New Zealand journal of ophthalmology. 1995 Nov;23(4):273-9	A preliminary report on a DNA-based screening method for retinitis pigmentosa. A trial on a west Australian population		180380	23341	2	1995	 In this study we have demonstrated that SSCP in combination with DNA sequencing is a powerful tool to identify new mutations and to provide information for a 'mutational panel' for future screening.	Case:27 patients with retinitis pigmentosa;Control:50 randomly selected controls										
133787		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	6	6p21.1-p11	RHAG	49680848	49712511			16378686				Rhesus blood group-associated glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000324.1			CDC GDPinfo	6005	Hs.120950			Neuroscience letters. 2005	Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG		180297	25495	2	2005												
133788	Y	retinitis pigmentosa.	OTHER	OTH	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Capeans C et al. 1998	9748691				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2			KGB	6010	Hs.247565			Human heredity. 1998 Sep-Oct;48(5):237-40	160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa.		180380	5284	1	1998												
133789	Y	Retinitis punctata albescens	OTHER	OTH	Retinal Degeneration|Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Souied E et al. 1996	8554077				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2			KGB	6010	Hs.247565			American journal of ophthalmology. 1996 Jan;121(1):19-25	Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.		180380	5285	1	1996	 The albescent phenotype in retinal dystrophy appears to not be caused exclusively by a peripherin/RDS gene mutation, and we suggest that the apolipoprotein E gene may play a role in the albescent phenotype.											
133783	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Sobell, J. L.  et al. 2005	16082709				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	Caucasian		CDC GDPinfo	5999	Hs.386726			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):23-7	Failure to confirm association between RGS4 haplotypes and schizophrenia in Caucasians.		602516	19262	2	2005												
133784		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Zhang, F.  et al. 2005	16176390				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	Chinese	China|Scotland	CDC GDPinfo	5999	Hs.386726			Genes, brain, and behavior. 2005 Oct;4(7):444-8	Association analysis of the RGS4 gene in Han Chinese and Scottish populations with schizophrenia.		602516	19263	2	2005												
133785		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q23.3	RGS4	161305774	161313004			16380905				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDPinfo	5999	Hs.386726			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		602516	28187	2	2005												
133786	N	retinitis pigmentosa	OTHER	OTH		17	17q23-q24	RGS9	60564010	60654283		Zhang, Q. J.  et al. 2002	15901556				Regulator of G-protein signalling 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003835.1			CDC GDPinfo	8787	Hs.132327			Yi chuan. 2002 Jan;24(1):19-21	[Analysis of GUCA1B,GNGT1 and RGS9 genes in patients with retinitis pigmentosa]		604067	25494	2	2002	We found no evidence that mutation in GUCA1B,GNGT1,or RGS9 gene is a cause of retinitis pigmentosa.	Cohort 120 probands with retinitis pigmentosa 										
133779		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Prasad, K. M.  et al. 2005	15381923				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDPinfo	5999	Hs.386726			Molecular psychiatry. 2005 Feb;10(2):213-9	Genetic polymorphisms of the RGS4 and dorsolateral prefrontal cortex morphometry among first episode schizophrenia patients.		602516	13508	2	2005												
133780	N	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Cordeiro, Q.  et al. 2005	15660667				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3		Brazil	CDC GDPinfo	5999	Hs.386726			Genes, brain, and behavior. 2005 Feb;4(1):45-50	Association and linkage analysis of RGS4 polymorphisms with schizophrenia and bipolar disorder in Brazil.		602516	13509	2	2005	In conclusion, association with SCZ was not detected in the present analyses. The failure to detect an association may be related to inadequate power or to confounds related to ethnic admixture. Suggestive associations with BD detected here require further investigation in a larger sample.	Case:271/306 schizophrenic (n = 271) and bipolar disorder (n =:306) patients:Brazil;Control:576 community-based controls										
133782	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Morris, D. W.  et al. 2004	14755443				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDPinfo	5999	Hs.386726			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Feb;125(1):50-3	Confirming RGS4 as a susceptibility gene for schizophrenia.		602516	19261	2	2004	This study provides further support for the contribution of RGS4 to schizophrenia susceptibility.	Case Irish schizophrenic patients;Control:controls										
133775		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q31	RGS2	191044793	191048026		Yang, J.  et al. 2005	16003176				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1			CDC GDPinfo	5997	Hs.78944			Journal of hypertension. 2005 Aug;23(8):1497-505	Genetic variations of regulator of G-protein signaling 2 in hypertensive patients and in the general population.		600861	19259	2	2005	 Our results suggest that genetic variations in RGS2 contribute partly to the hypertensive phenotype.											
133776		Schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Chowdari KV 2002	12023979				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	United States		TJB	5999	Hs.386726			Human molecular genetics. 2002 Jun;11(12):1373-80	Association and linkage analyses of RGS4 polymorphisms in schizophrenia		602516	5282	1	2002	Our results illustrate the potential power of combining gene expression profiling and genomic analyses to identify susceptibility genes for genetically complex disorders.	Case schizophrenic patients ascertained in Pittsburgh,:PA;Control two population-based control samples										
133778		schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Chowdari, K. V.  et al. 2002	12023979				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDPinfo	5999	Hs.386726			Human molecular genetics. 2002 Jun;11(12):1373-80	Association and linkage analyses of RGS4 polymorphisms in schizophrenia.		602516	13507	2	2002	Our results illustrate the potential power of combining gene expression profiling and genomic analyses to identify susceptibility genes for genetically complex disorders.	Case schizophrenic patients ascertained in Pittsburgh,:PA;Control two population-based control samples										
133771		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	21	21q22.3	SLC19A1	45759056	45786779		Chango, A.  et al. 2005	16115349				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	French	France	CDC GDPinfo	6573	Hs.507475			The British journal of nutrition. 2005 Aug;94(2):166-9	No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.		600424	27192	2	2005												
133772		bipolar disorder	PSYCH	PSY	Bipolar Disorder	12	12q24	RFX4	105501162	105680711		Glaser, B.  et al. 2005	15940297				Regulatory factor X, 4 (influences HLA class II expression)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032491.3			CDC GDPinfo	5992	Hs.388827			Molecular psychiatry. 2005 Oct;10(10):920-7	Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.		603958	19258	2	2005												
133774		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1q31	RGS2	191044793	191048026		Berman, D. M.  et al. 2004	15375002				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1			CDC GDPinfo	5997	Hs.78944			Cancer research. 2004 Sep;64(18):6820-6	A functional polymorphism in RGS6 modulates the risk of bladder cancer.		600861	13506	2	2004	These data provide the first evidence that RGS proteins may be important modulators of cancer risk and validate RGS6 as a target for further study.	Control:466 matched controls;Case:477 bladder cancer patients										
133768		colon cancer	CANCER	CAN	Adenoma|Colonic Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Ulrich, C. M.  et al. 2005	16284371				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2509-16	Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer.		600424	25492	2	2005			diet									
133769		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Pregnancy Complications|Folic Acid Deficiency	21	21q22.3	SLC19A1	45759056	45786779		Relton, C. L.  et al. 2004	15059614				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Molecular genetics and metabolism. 2004 Apr;81(4):273-81	Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy.		600424	25493	2	2004	Possession of compound 1298A C and 677C T variants elevated risk of NTD pregnancy considerably. Erythrocyte folate levels were persistently lower in NTD mothers despite assays being conducted many years after the index pregnancy (17.6+/-12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677C T variant.	Control pregnant controls and non-pregnant controls from the same geographical region;Case:97 mothers of NTD cases northern UK										
133770		thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele	CARDIOVASCULAR	CARD		21	21q22.3	SLC19A1	45759056	45786779		Shi, M.  et al. 2003	14632302				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Mexican		CDC GDPinfo	6573	Hs.507475			Birth defects research Part A, Clinical and molecular teratology. 2003 Aug;67(8):545-9	Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2		600424	27191	2	2003	 The rare allele frequency for each of the five genes studied varied widely. LD is strongest in Pakistani and Brazilian populations (D' = 1.0) and weakest in Mexican populations (D' = 0.45). These findings will allow the selection of variants that will provide the most power in studies of folate pathway genes involving different ancestral populations, and contribute to our knowledge of the population distribution of selected nutritional gene variants.	Cohort 1,064 DNA samples from populations around the world, which were made available by the Centre d'Etude du Polymorphisme Humain (CEPH) consortium worldwide 										
133764		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism	21	21q22.3	SLC19A1	45759056	45786779		Morin, I.  et al. 2003	12855225				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1		Canada	CDC GDPinfo	6573	Hs.507475			Molecular genetics and metabolism. 2003 Jul;79(3):197-200	Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.		600424	25488	2	2003	Since this small study is the first to demonstrate increased risk for women with the RFC-1 variant for having a child with a NTD, additional larger studies are required to confirm this change as another potential genetic modifier for spina bifida risk.	Case mothers of spina bifida offspring;Control control women										
133766		homocysteine	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Hiraoka, M.  et al. 2004	15044114				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Japanese	Japan	CDC GDPinfo	6573	Hs.507475			Biochemical and biophysical research communications. 2004 Apr;316(4):1210-6	Gene-nutrient and gene-gene interactions of controlled folate intake by Japanese women		600424	25490	2	2004	The tHcy value was significantly lower in young women with CC or CT of MTHFR than with TT.	Cohort Japanese women 										
133767		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	21	21q22.3	SLC19A1	45759056	45786779		Skibola, C. F.  et al. 2004	15198953				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Blood. 2004 Oct;104(7):2155-62	Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma.		600424	25491	2	2004	The associations of DLCL and FL with TYMS 1494del6 and MTHFR 677TT genotypes, respectively, suggest that folate metabolism may play an important role in the pathogenesis of specific subtypes of NHL.	Control:controls;Case non-Hodgkin lymphoma cases San Francisco Bay Area, US:1988 - 1995										
133761	N	kidney transplant; folate; homocysteine	PHARMACOGENOMIC	PHARM		21	21q22.3	SLC19A1	45759056	45786779		Winkelmayer, W. C.  et al. 2003	12753319				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Kidney international. 2003 Jun;63(6):2280-5	Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients.		600424	23336	2	2003	 We conclude that GCP2 1561C>T is associated with elevated folate levels. GCP2 1561C>T and RFC1 80G>A are no major determinants of tHcy plasma levels in kidney transplant patients.	Cohort 730 kidney allograft recipients 										
133762	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	21	21q22.3	SLC19A1	45759056	45786779		De Marco, P.  et al. 2003	12673279				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Italian	Italy	CDC GDPinfo	6573	Hs.507475			European journal of human genetics. 2003 Mar;11(3):245-52	Reduced folate carrier polymorphism (80A-->G) and neural tube defects.		600424	23337	2	2003	Altogether, our findings support the hypothesis that RFC-1 A80G variant may contribute to NTD susceptibility in the Italian population.	Control:156 control individuals;Case:174 Italian probands with nonsyndromic NTD, 43 mothers, 53 fathers										
133758		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	21	21q22.3	SLC19A1	45759056	45786779		Dervieux, T.  et al. 2004	15457444				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Arthritis and rheumatism. 2004 Sep;50(9):2766-74	Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.		600424	23333	2	2004	 These data suggest that measuring RBC MTXPG levels and/or the common polymorphisms in the folate-purine-pyrimidine pathway may help in monitoring MTX therapy.	Cohort patients with rheumatoid arthritis 	methotrexate									
133759		methotrexate efficacy	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	21	21q22.3	SLC19A1	45759056	45786779		Dervieux, T.  et al. 2005	15677700				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Annals of the rheumatic diseases. 2005 Aug;64(8):1180-5	Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate:results of a multicentred cross sectional observational study.		600424	23334	2	2005	 Pharmacogenetic and metabolite measurements may be useful in optimising MTX treatment. Prospective studies are warranted to investigate the predictive value of these markers for MTX efficacy.											
133760	N	kidney failure, chronic; folate; homocysteine	RENAL	REN	Kidney Failure, Chronic	21	21q22.3	SLC19A1	45759056	45786779		Fodinger, M.  et al. 2003	12707400				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Journal of the American Society of Nephrology. 2003 May;14(5):1314-9	Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients.		600424	23335	2	2003	In conclusion, GCP2 1561C>T, but not RFC1 80G>A, is a predictor of red blood cell folate level in chronic dialysis patients. Both polymorphisms have no major effect on tHcy plasma concentration in end-stage renal disease patients.	Cohort 120 chronic dialysis patients 										
133755		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cleft Palate|Cleft Lip|Heart Defects, Congenital	21	21q22.3	SLC19A1	45759056	45786779		Shaw, G. M.  et al. 2003	14561664				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1		California	CDC GDPinfo	6573	Hs.507475			American journal of epidemiology. 2003 Oct;158(8):747-52	Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects.		600424	19252	2	2003	Thus, this study found modest evidence for a gene-nutrient interaction between infant RFC1 genotype and periconceptional intake of vitamins on the risk of conotruncal defects.	Case:305/123/163 liveborn infants with cleft lip with or without cleft palate(n=305), with cleft palate (n=123), and with conotruncal heart defects (n=163):California 1987-1989 births;Control:364 nonmalformed controls										
133756	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	21	21q22.3	SLC19A1	45759056	45786779		Pei, L.  et al. 2005	15799025				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Chinese	China	CDC GDPinfo	6573	Hs.507475			Birth defects research Part A, Clinical and molecular teratology. 2005 Jun;73(6):430-3	Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population.		600424	19255	2	2005	 Our findings suggest that the RFC1 G allele is likely to be an important genetic factor in determining folate transport and subsequently may be a risk factor for NTDs in this Chinese population.	Control:100 nonmalformed control families;Case:104 Chinese nuclear families with neural tube defects										
133757		heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate	CARDIOVASCULAR	CARD	Cleft Palate|Cleft Lip|Heart Defects, Congenital|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Pei, L.  et al. 2005	16019224				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Chinese		CDC GDPinfo	6573	Hs.507475			Annals of epidemiology. 2005	Genetic Variation of Infant Reduced Folate Carrier (A80G) and Risk of Orofacial Defects and Congenital Heart Defects in China.		600424	19256	2	2005	 Our findings suggest that the RFC1 G allele is likely to be an important candidate gene in folate transport and to be associated with risk for CHD. This study found modest evidence for a gene-nutrient interaction between offspring RFC1 genotype and periconceptional intake of folic acid on the risk of congenital heart defects.											
133752		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Folic Acid Deficiency	21	21q22.3	SLC19A1	45759056	45786779		Pei, L. J.  et al. 2005	16086047	(RFC1 A80G)			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Beijing da xue xue bao Yi xue ban. 2005 Aug;37(4):341-5	[Epidemiological study on reduced folate carrier gene(RFC1 A80G) polymorphism and other risk factors of neural tube defects]		600424	13503	2	2005	 Our findings indicate that the RFC1 genotype (GG) is a possible susceptible gene marker for an increased NTDs risk in this Chinese population, and there is a potential influence on the risk of NTDs in maternal periconceptional folic acid supplementation, and maternal fever during the early pregnancy.											
133753		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779			16343969				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Molecular genetics and metabolism. 2005	Reduced folate carrier polymorphisms and neural tube defect risk		600424	13504	2	2005												
133754	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Shaw, G. M.  et al. 2002	11857541				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			American journal of medical genetics. 2002 Feb;108(1):6-Jan	Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida.		600424	19249	2	2002	Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for RFC1 A80G, it did reveal modest evidence for a gene-nutrient interaction between infant homozygosity for the RFC1 G80/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida.	Case:133 live-born spina bifida case infants:1989-1991;Control:188 control infants	folate									
133749	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Pei, L. J.  et al. 2004	15231126	(RFC1)			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Chinese	China	CDC GDPinfo	6573	Hs.507475			Zhonghua liu xing bing xue za zhi. 2004 Jun;25(6):499-502	[Study on reduced folate carrier gene (RFC1) polymorphism in the southern and northern Chinese population]		600424	13500	2	2004	 The distribution of RFC1 genotype seemed to be consistent with neural tube defects (NTDs) while its prevalence among the northerners was higher than that of southerners, with female having a higher NTDs prevalence. This study provided genetic epidemiological data for etiological hypothesis between RFC1 and diseases relative to folate metabolism.	Cohort 720 blood spot DNA from the normal subjects 										
133750	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Cleft Palate|Cleft Lip|Heart Defects, Congenital|Abnormalities, Multiple|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Pei, L. J.  et al. 2004	15769366				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1063-7	[Study on the association between reduced folate carrier gene polymorphism and congenital heart defects and cleft lip with or without cleft palate]		600424	13501	2	2004	 Our findings suggested that the G allele was likely to be a genetically susceptible allele for CHD. There was possible association between offspring with GG, GA genotype and maternal periconceptional folicacid deficiency.	Control:100 control families without child-affected birth:defects;Case:67/82 triads with nonsyndromic child-affected congenital heart disease (n=67) and with child-affected cleft lip with or without cleft palate										
133746		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	2	2q11.1-q11.2	REV1L	99383369	99472912		Sakiyama, T.  et al. 2004	15609317				REV1-like (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016316.2			CDC GDPinfo	51455	Hs.443077			International journal of cancer. Journal international du cancer. 2005 May;114(5):730-7	Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk		606134	25487	2	2004	The present results suggest that these 4 SNPs function as genetic factors underlying lung cancer susceptibility by modulating activities to maintain the genome integrity of each individual.	Control:685:controls;Case:752/250 adenocarcinoma cases (n=752) and squamous cell carcinoma cases (n=250)										
133747		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779	ns	Relton CL 2004	15060097	80G-->A			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1		Great Britain	KGB	6573	Hs.507475			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		600424	5281	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:530 individuals from families affected by NTD northern UK;Control:645/602 maternal controls (n=645) and healthy newborn:controls (n=602)										
133748		leukemia; methotrexate levels	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	21	21q22.3	SLC19A1	45759056	45786779		Laverdiere, C.  et al. 2002	12411325	G80A			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Blood. 2002 Nov;100(10):3832-4	Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia.		600424	13497	2	2002	Possible explanations for observed associations are discussed; however, additional experiments are required to achieve understanding of the underlying mechanism.	Cohort children with acute lymphoblastic leukemia 										
133743	Y	insulin resistance	OTHER	OTH	Insulin Resistance	19	19p13.2	RETN	7639971	7641340		Pizzuti, A.  et al. 2002	12213907				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574		Italy	CDC GDPinfo	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4403-6	An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.		605565	19288	2	2002	In conclusion, our data suggest that subjects carrying allele 3 of the resistin gene are characterized by relatively high insulin sensitivity.	Cohort 203/456 unrelated white Caucasian nondiabetic subjects from Sicily and 456 from the Gargano area (center east coast of Italy) Italy 										
133744	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340		Ma, X.  et al. 2002	12213908				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574		Italy	CDC GDPinfo	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4407-10	Genetic variants at the resistin locus and risk of type 2 diabetes in Caucasians.		605565	19289	2	2002	In conclusion, resistin does not appear to be a major gene for type 2 diabetes. However, our data suggest a synergistic effect of sequence differences at the resistin locus and obesity on risk of type 2 diabetes. Further studies are needed to confirm this finding in other populations.	Control:303 Caucasian nondiabetic controls;Case:312 Caucasian cases with type 2 diabetes										
133745	N	insulin	METABOLIC	MET	Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	19	19p13.2	RETN	7639971	7641340		Ochi, M.  et al. 2003	12965109				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574	Japanese	Japan	CDC GDPinfo	56729	Hs.283091			Diabetes research and clinical practice. 2003 Sep;61(3):191-8	The absence of evidence for major effects of the frequent SNP +299G>A in the resistin gene on susceptibility to insulin resistance syndrome associated with Japanese type 2 diabetes.		605565	19290	2	2003	Therefore, the frequent SNP +299G>A in the resistin gene is unlikely to have major effects on susceptibility to insulin resistance syndrome associated with type 2 diabetes in Japanese subjects.	Case:99 type 2 diabetic subjects;Control:99:controls										
133739	N	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	19	19p13.2	RETN	7639971	7641340		Sentinelli, F.  et al. 2002	11872692				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDPinfo	56729	Hs.283091			Diabetes. 2002 Mar;51(3):860-2	Human resistin gene, obesity, and type 2 diabetes:mutation analysis and population study.		605565	19246	2	2002	In conclusion, our data suggest that genetic defects of the resistin gene are unlikely to play a role in the etiology of these common disorders in our population.	Control:186 control subjects;Case:207 diabetic subjects										
133740	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Obesity	19	19p13.2	RETN	7639971	7641340		Engert, J. C.  et al. 2002	11978666				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDPinfo	56729	Hs.283091			Diabetes. 2002 May;51(5):1629-34	5' flanking variants of resistin are associated with obesity		605565	19247	2	2002	When the data from these two populations were combined and adjusted for age and sex, both the g.-537 and the g.-420 variants were associated with an increased risk for a BMI > or =30 kg/m(2).	Cohort nondiabetic individuals from the Quebec City area and the Saguenay-Lac-St-Jean region of Quebec Canada 										
133741	Y	diabetes, type 2; insulin; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	19	19p13.2	RETN	7639971	7641340		Conneely, K. N.  et al. 2004	15517149				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Finnish	Finland	CDC GDPinfo	56729	Hs.283091			Diabetologia. 2004 Oct;47(10):1782-8	Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects.		605565	19248	2	2004	Our results add to growing evidence that resistin is associated with variation in weight, fat distribution and insulin resistance.	Control:187/222 spousal (n=187) and elderly (n=222) controls of Finnish origin;Case:781 type 2 diabetic cases										
133736	Y	body mass; cholesterol, HDL; triglycerides; diabetes, type 2; cholesterol, LDL; hypertension; atherosclerosis	METABOLIC	MET	Arteriosclerosis|Hypertension|Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340			16313475	(+62G-->A)			resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	German	Germany	CDC GDPinfo	56729	Hs.283091			Journal of internal medicine. 2005 Dec;258(6):518-26	Resistin gene 3'-untranslated region +62G-->A polymorphism is associated with hypertension but not diabetes mellitus type 2 in a German population		605565	13495	2	2005	 In conclusion, the present data suggest that in a German Caucasian population the +62G-->A polymorphism of the resistin gene is associated with hypertension but not with DM-2.											
133737	Y	diabetes, type 2; hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.2	RETN	7639971	7641340		Tan, M. S.  et al. 2003	12629116	(+62G-->A )			resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574	Chinese		CDC GDPinfo	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2003 Mar;88(3):1258-63	Association of resistin gene 3'-untranslated region +62G-->A polymorphism with type 2 diabetes and hypertension in a Chinese population.		605565	13518	2	2003	These findings suggest that resistin may play a role in the pathogenesis of type 2 diabetes and insulin resistance-related hypertension.	Case:1102 Chinese type 2 diabetes patients;Control:743 subjects without diabetes										
133738	Y	plasma resistin levels	NORMALVARIATION	NV	Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340		Cho, Y. M.  et al. 2004	14740159			promoter	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574		Korea	CDC GDPinfo	56729	Hs.283091			Diabetologia. 2004 Mar;47(3):559-65	Common genetic polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans.		605565	13519	2	2004	Polymorphisms in the promoter of resistin gene are major determinants of plasma resistin concentrations in humans.	Cohort Korean subjects with or without Type 2 diabetes Korea 										
133731	Y	body mass	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	19	19p13.2	RETN	7639971	7641340		Mattevi, V. S.  et al. 2004	15221446				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2		Brazil|Europe	CDC GDPinfo	56729	Hs.283091			Human genetics. 2004 Aug;115(3):208-12	A resistin gene polymorphism is associated with body mass index in women.		605565	13490	2	2004	Our findings suggest that RETN gene variation has gender-specific effects on BMI and warrants further investigation of its implications for the development of obesity.	Cohort 585 non-diabetic individuals of European descent 										
133732		obesity	METABOLIC	MET	Obesity	19	19p13.2	RETN	7639971	7641340		Azuma, K.  et al. 2004	15326567			promoter	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDPinfo	56729	Hs.283091			Horm Metab Res. 2004 Aug;36(8):564-70	Novel resistin promoter polymorphisms: associationwith serum resistin level in Japanese obese individuals.		605565	13491	2	2004	 We found that variability in the serum resistin level might be related to polymorphic variants of the promoter region of the gene.	Cohort 60 young, obese, non-diabetic subjects taking no medication 										
133734	Y	body mass; glucose tolerance; insulin; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	19	19p13.2	RETN	7639971	7641340		Bouchard, L.  et al. 2004	15754730				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2		Quebec	CDC GDPinfo	56729	Hs.283091			Journal of endocrinological investigation. 2004 Dec;27(11):1003-9	Human resistin gene polymorphism is associated with visceral obesity and fasting and oral glucose stimulated C-peptide in the Qu????bec Family Study.		605565	13493	2	2004	These results suggest that in men, the human resistin gene is associated with reduced amount of visceral obesity and lower insulin secretory responses to a glucose load.	Cohort 725 adult subjects (including 42 diabetics) participating in the Quebec Family Study 										
133727	N	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity	19	19p13.2	RETN	7639971	7641340	n	Urbanek M et al. 2003	12502516			promoter	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			KGB	56729	Hs.283091			Diabetes. 2003 Jan;52(1):214-7	Variation in resistin gene promoter not associated with polycystic ovary syndrome.		605565	6783	1	2003												
133728	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	19	19p13.2	RETN	7639971	7641340		Sentinelli F 2002	11872692				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			Y Wang	56729	Hs.283091			Diabetes. 2002 Mar;51(3):860-2	Human resistin gene, obesity, and type 2 diabetes: mutation analysis and population study.		605565	6784	1	2002	In conclusion, our data suggest that genetic defects of the resistin gene are unlikely to play a role in the etiology of these common disorders in our population.	Control:186 control subjects;Case:207 diabetic subjects										
133729	N	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	19	19p13.2	RETN	7639971	7641340		Ochi M 2003	12965109	+299G>A			resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Japanese	Japan	Y Wang	56729	Hs.283091			Diabetes research and clinical practice. 2003 Sep;61(3):191-8	The absence of evidence for major effects of the frequent SNP +299G>A in the resistin gene on susceptibility to insulin resistance syndrome associated with Japanese type 2 diabetes.		605565	6785	1	2003												
133730		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340		Osawa, H.  et al. 2002	11872693				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2		Japan	CDC GDPinfo	56729	Hs.283091			Diabetes. 2002 Mar;51(3):863-6	Systematic search for single nucleotide polymorphisms in the resistin gene: the absence ofevidence for the association of three identified single nucleotide polymorphisms with Japanese type 2 diabetes.		605565	13489	2	2002	These identified SNPs, which were in linkage disequilibrium, represent potentially useful tools for searching for their association with specific phenotypes of diabetes.	Case:99 type 2 diabetic patients;Control:99 control subjects										
133723	Y	Type II diabetes and hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.2	RETN	7639971	7641340	0.001	Tan MS	12629116			3'untranslated	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Chinese		Yau-Jiunn Lee	56729	Hs.283091	mean systolic and diastolic blood pressure		The Journal of clinical endocrinology and metabolism. 2003 Mar;88(3):1258-63	Association of resistin gene 3'-untranslated region +62G-->A polymorphism with		605565	6779	1	2003		Case:1102; Control:743										
133724		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	19	19p13.2	RETN	7639971	7641340		Wang H et al. 2002	12050208				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	caucasian		KGB	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2520-4	Human resistin gene: molecular scanning and evaluation of association with insulin sensitivity and type 2 diabetes in Caucasians.		605565	6780	1	2002												
133725	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340		Osawa H et al. 2002	11872693				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Japanese	Japan	KGB	56729	Hs.283091			Diabetes. 2002 Mar;51(3):863-6	Systematic search for single nucleotide polymorphisms in the resistin gene: the absence of evidence for the association of three identified single nucleotide polymorphisms with Japanese type 2 diabetes.		605565	6781	1	2002	These identified SNPs, which were in linkage disequilibrium, represent potentially useful tools for searching for their association with specific phenotypes of diabetes.	Case:99 type 2 diabetic patients;Control:99 control subjects										
133726	Y	decreased risk of insulin resistance	OTHER	OTH	Insulin Resistance	19	19p13.2	RETN	7639971	7641340		Pizzuti A et al. 2002	12213907			3' untranslated	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2		Italy	KGB	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4403-6	An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.		605565	6782	1	2002												
133720	Y	multiple endocrine neoplasia	CANCER	CAN	Carcinoma, Medullary|Pheochromocytoma|Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Poturnajova, M.  et al. 2004	15592804				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Journal of molecular medicine (Berlin, Germany). 2005 Apr;83(4):287-95	Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome.		164761	19244	2	2004	These observations confirm the multifactorial process leading to development of MEN 2A syndrome.	Case multiple endocrine neoplasia type 2A patients;Control healthy family members and control blood donors										
133721		thyroid cancer	CANCER	CAN	Adenoma|Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms|Lymphatic Metastasis|Hashimoto Disease	10	10q11.2	RET	42892522	42945803		Zhu, X. L.  et al. 2005	16181547				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Zhonghua bing li xue za zhi Chinese journal of pathology. 2005 May;34(5):270-4	[BRAFV599E mutation and RET/PTC rearrangements in papillary thyroid carcinoma]		164761	23332	2	2005	 (1) BRAF(V599E) mutation and RET/PTC rearrangements were unique to PTC. The high prevalence of BRAF(V599E) mutation indicates that it is an important molecular hallmark of PTC. (2) BRAF(V599E) mutation rate was high in classic type PTC and tall cell type inferred that BRAF(V599E) mutation played an important role in their etiopathogenesis. (3) There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements suggest that they are alternative events in PTC.											
133722		SIDS/sudden infant death syndrome	UNKNOWN	UNK	Sudden Infant Death	10	10q11.2	RET	42892522	42945803		Weese-Mayer, D. E.  et al. 2004	15240857				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		164761	27985	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
133717	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Burzynski, G. M.  et al. 2004	15138456			promoter	Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3		Netherlands	CDC GDPinfo	5979	Hs.350321			European journal of human genetics. 2004 Aug;12(8):604-12	Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.		164761	19241	2	2004	These results allowed us to conclude that RET plays a crucial role in HSCR even when no RET mutations are found. An unknown functional disease variant(s) with a dosage-dependent effect in HSCR is likely located between the promoter region and exon 2 of RET.	Control:controls;Case:117 sporadic Hirschsprung disease patients and their:parents										
133718		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Multiple Endocrine Neoplasia Type 2b|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Kameyama, K.  et al. 2004	15271413				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3		Japan	CDC GDPinfo	5979	Hs.350321			Biomedicine & pharmacotherapy. 2004 Jul-Aug;58(7-Jun):345-7	RET oncogene mutations in 75 cases of familial medullary thyroid carcinoma in Japan.		164761	19242	2	2004	The genotype-phenotype correlations of our data will allow individualized recommendations for the optimal timing of prophylactic surgery.	Cohort 60/12/3 multiple endocrine neoplasia 2A patients (n=60), familial non-MEN medullary carcinoma (FMTC) patients (n=12), and three MEN2B patients (n=3) 										
133719		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Garcia-Barcelo, M.  et al. 2004	15548547			promoter	Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Chinese		CDC GDPinfo	5979	Hs.350321			Human molecular genetics. 2005 Jan;14(2):191-204	TTF-1 and RET promoter SNPs: regulation of RETtranscription in Hirschsprung's disease.		164761	19243	2	2004	By using a weighted logistic regression approach, we determined that of all SNPs tested in our study, the promoter SNPs are the most correlated to the disease. Functional analysis of the RET promoter SNPs in the context of additional 5' regulatory regions demonstrated that the HSCR-associated alleles decrease RET transcription. These SNPs overlap a TTF-1 binding site and TTF-1-activated RET transcription is also decreased by the HSCR-associated SNPs. Moreover, we identified a HSCR patient with a Gly322Ser TTF-1 mutation that compromises activation of transcription from HSCR-associated RET promoter haplotypes. Interestingly, we show that the pattern of RET and TTF-1 expression is coincident in developing human gut. We also present a detailed profile of the RET gene in our population that provides an insight for the higher incidence of the disease in Chinese.	Cohort 172 Chinese sporadic Hirschsprung's disease patients 										
133714		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Multiple Endocrine Neoplasia Type 2b|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Frank-Raue, K.  et al. 2003	14508694				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Deutsche medizinische Wochenschrift (1946). 2003 Sep;128(39):1998-2002	[Hereditary medullary thyroid carcinoma--genotype-phenotype characterization]		164761	19238	2	2003	 MTC in patients with exon 790, 791, 804, 891 mutations displayed a late onset and an indolent course compared to codon 634 mutation, this has to be taken into account when recommending timing and extent of prophylactic surgery.	Cohort 47/66 patients with mutations in exon 13-15 (n=47) and with mutations in exon 11, codon 634 mutation (n=66) 										
133715		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Thyroid Neoplasms|Hyperplasia	10	10q11.2	RET	42892522	42945803		Machens, A.  et al. 2003	14555929				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Surgery. 2003 Sep;134(3):425-31	Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations.		164761	19239	2	2003	 The pace of malignant progression of the RET genotype should be taken into account when considering prophylactic thyroidectomy in RET gene carriers.	Cohort 167 consecutive carriers of RET gene point mutations who underwent total thyroidectomy November 1994 - November 2002 										
133716		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Multiple Endocrine Neoplasia Type 2b|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Torrente, I.  et al. 2004	15129804				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Italian	Italy	CDC GDPinfo	5979	Hs.350321			Journal of endocrinological investigation. 2004 Feb;27(2):111-6	Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma		164761	19240	2	2004	Overall, the DHPLC-based methodology showed a high level of sensitivity and accuracy, nearing 100%. Furthermore, our protocol showed the ability to	Cohort 111 subjects, including 45 MTC patients and 49 relatives with known RET mutations and 17 individuals, being at risk of hereditary MTC and carrying unknown RET alleles 										
133711	Y	thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Lesueur, F.  et al. 2002	11950855				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Journal of medical genetics. 2002 Apr;39(4):260-5	Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma.		164761	19235	2	2002	 Our data suggest that some variants of RET and some specific haplotypes may act as low penetrance alleles in the predisposition to PTC.	Case papillary thyroid carcinoma cases;Control controls from four countries matched for sex, age, and population										
133712	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Fitze, G.  et al. 2002	11955539				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Lancet. 2002 Apr;359(9313):1200-5	Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.		164761	19236	2	2002	These observations lend support to the idea that both RET alleles have a role in pathogenesis of Hirschsprung's disease, in a dose-dependent fashion. We also showed that the c135G/A polymorphism modifies the phenotype by a within-gene interaction between the c135A variant and a mutation.	Cohort 76 Caucasians with Hirschsprung's disease Germany 										
133713		pheochromocytoma	OTHER	OTH	Pheochromocytoma|Glomus Tumor|Multiple Endocrine Neoplasia Type 2a|Hippel-lindau Disease	10	10q11.2	RET	42892522	42945803		Neumann, H. P.  et al. 2002	12000816				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			The New England journal of medicine. 2002 May;346(19):1459-66	Germ-line mutations in nonsyndromic pheochromocytoma		164761	19237	2	2002	 Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	Case:271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease										
133708		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Costa, P.  et al. 2005	16230779				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Portuguese	Portugal	CDC GDPinfo	5979	Hs.350321			Endocrine. 2005 Aug;27(3):239-43	RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population.		164761	13488	2	2005												
133709		hereditary medullary thyroid carcinoma	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Machens, A.  et al. 2001	11238493				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			The Journal of clinical endocrinology and metabolism. 2001 Mar;86(3):1104-9	Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological featuresand biochemical properties.		164761	19233	2	2001	The current data demonstrate that there is a significant genotype-phenotype correlation, allowing for a more individualized approach to the timing and extent of prophylactic surgery.	Case:63 patients with hereditary MTC November 1994 to October 1999										
133710	Y	thyroid cancer; thyroid carcinoma, sporadic medullary	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Ruiz, A.  et al. 2001	11589684				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	German	Spain	CDC GDPinfo	5979	Hs.350321			Clinical endocrinology. 2001 Sep;55(3):399-402	Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population.		164761	19234	2	2001	 Germline RET S836S variant is associated with a two- to three-fold risk of sporadic MTC in the Spanish population, in accordance with a previous study based on German cases. Our observations suggest that this phenomenon might be universal and not limited to Germany.	Control:250 region and race matched cohort;Case:32 patients with sporadic MTC:Andalucia, Spain:1995-1999										
133705		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Ho, T.  et al. 2005	15933516				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			The Laryngoscope. 2005 Jun;115(6):1035-41	RET polymorphisms and haplotypes and risk of differentiated thyroid cancer.		164761	13485	2	2005	 Exon 7 (and possibly 14) polymorphism of RET may be associated with increased risk of DTC. However, the sample size is relatively small, and larger investigations are needed.	Control cancer-free controls frequency matched on age and:sex;Case hospital-based non-Hispanic Caucasian patients with differentiated thyroid carcinoma or benign thyroid:disease (BTD)										
133706	N	thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Wohllk, G. = N et al. 2005	15953945	G691S, L769L and S836S			Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Rev Med Chil. 2005 Apr;133(4):397-402	[G691S, L769L and S836S ret proto-oncogene polymorphisms are not associated with higher risk to sporadic medullary thyroid carcinoma in Chilean patients]		164761	13486	2	2005	 We did not find an over representation of the G691S, L769 and S836S. These results argue against the validity of the association of these polymorphisms as contributing factors in the development of sporadic MTC based on a Chilean population and raise questions about the importance of these polymorphisms overall.											
133707		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Baumgartner-Parzer, S. M.  et al. 2005	16118333	exon 13 and intron 14		intron	Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			The Journal of clinical endocrinology and metabolism. 2005 Nov;90(11):6232-6	Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullarythyroid carcinoma?		164761	13487	2	2005	 These data suggest that the exon 13 (L769L) and the intron 14 (IVS14-24) SNPs could act as genetic modifiers in the development of some forms of hereditary and sporadic MTC, respectively.											
133702		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Elisei, R.  et al. 2004	15240649	(G691S)			Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3579-84	RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population.		164761	13482	2	2004	A putative role of the G691S polymorphism as genetic modifier in the normal subjects remains to be established.	Case:106 sporadic hereditary medullary thyroid carcinomas:patients;Control:106 normal age-, sex-, race-, and geographic origin-matched controls										
133703	N	thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Wiench, M.  et al. 2004	15350625	codons 769 and 836			Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Polish		CDC GDPinfo	5979	Hs.350321			Cancer detection and prevention. 2004 ;28(4):231-6	RET polymorphisms in codons 769 and 836 are not associated with predisposition to medullary thyroid carcinoma		164761	13483	2	2004	We conclude that  in Polish patients polymorphisms at RET codons 769 and 836 are not associated with medullary thyroid carcinoma.	Case:205 patients with apparent sporadic medullary thyroid:carcinoma:Poland;Control:90 healthy subjects										
133704	Y	ovarian cancer; thyroid cancer; pheochromocytoma	CANCER	CAN	Endocrine Gland Neoplasms	10	10q11.2	RET	42892522	42945803		Gartner, W.  et al. 2005	15841388				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Human genetics. 2005 Jul;117(3-Feb):143-53	A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients.		164761	13484	2	2005	In conclusion, our data demonstrate presence of a 5'-terminal RET proto-oncogene transcript in endocrine tissues and reveal a bi-allelic RET proto-oncogene polymorphism. A heterozygous genotype for this polymorphism is found in a considerable number of endocrine tumor patients.	Control healthy subjects;Case patients suffering from various endocrine:malignancies										
133699		cutaneous lichen amyloidosis.	OTHER	OTH	Multiple Endocrine Neoplasia Type 2a|Amyloidosis, Familial|Pruritus|Skin Diseases, Metabolic	10	10q11.2	RET	42892522	42945803		Verga U 2003	12864791				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			Clinical endocrinology. 2003 Aug;59(2):156-61	Frequent association between MEN 2A and cutaneous lichen amyloidosis.		164761	5279	1	2003	 Among the members of the three families with MEN 2A and RET 634 mutation, the incidence of CLA was 36%, a figure similar to that reported in the literature for phaeochromocytoma (30-50%) and even higher than that for hyperparathyroidism (10-20%). The present data confirm that CLA is linked to codon 634 RET mutations and is a precocious marker of the disorder.											
133700		Hirschsprung disease	OTHER	OTH	Hirschsprung Disease|Recurrence	10	10q11.2	RET	42892522	42945803		Garcia-Barcelo M 2004	14633923				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3		China	KGB	5979	Hs.350321			Clinical chemistry. 2004 Jan;50(1):93-100	Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.		164761	5280	1	2004	 This study identifies additional HSCR disease-causing mutations, some peculiar to the Chinese population, and represents the first comprehensive genetic analysis of sporadic HSCR disease in Chinese.											
133701	Y	thyroid cancer; Hirschsprung's disease	CANCER	CAN	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Fitze, G.  et al. 2003	12872262			intron	Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDPinfo	5979	Hs.350321			Human mutation. 2003 Aug;22(2):177	Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.		164761	13481	2	2003	These findings support the hypothesis that specific RET haplotypes cause or modify the HSCR phenotype.	Control control subjects;Case:76/40 Hirschsprung disease patients (n=76) and sporadic medulary thyroid carcinoma patients (n=40)										
133695	N	Idiopathic slow-transit constipation	OTHER	OTH	Constipation	10	10q11.2	RET	42892522	42945803	n	Knowles CH et al. 2000	10859088				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			Diseases of the colon and rectum. 2000 Jun;43(6):851-7	Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF.		164761	5275	1	2000	 Mutation of RET or glial cell-derived neurotrophic factor is not a frequent cause of idiopathic slow-transit constipation.											
133696	Y	multiple endocrine neoplasia type 2A	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 2a	10	10q11.2	RET	42892522	42945803		Tessitore A et al. 1999	10522989				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			The Journal of clinical endocrinology and metabolism. 1999 Oct;84(10):3522-7	A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene.		164761	5276	1	1999												
133698	Y	sporadic pheochromocytoma	OTHER	OTH	Carcinoma, Medullary|Pheochromocytoma|Adrenal Gland Neoplasms|Thyroid Neoplasms|Hirschsprung Disease|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		McWhinney SR 2003	14557473				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4911-6	Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.		164761	5278	1	2003												
133692	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Fitze G et al. 2002	11955539				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			Lancet. 2002 Apr;359(9313):1200-5	Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.		164761	5272	1	2002	These observations lend support to the idea that both RET alleles have a role in pathogenesis of Hirschsprung's disease, in a dose-dependent fashion. We also showed that the c135G/A polymorphism modifies the phenotype by a within-gene interaction between the c135A variant and a mutation.	Cohort 76 Caucasians with Hirschsprung's disease Germany										
133693	Y	medullary sponge kidney disease	RENAL	REN	Multiple Endocrine Neoplasia Type 2a|Medullary Sponge Kidney	10	10q11.2	RET	42892522	42945803		Diouf B et al. 2000	11096158				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			Nephrology, dialysis, transplantation. 2000 Dec;15(12):2062-3	Association of medullary sponge kidney disease and multiple endocrine neoplasia type IIA due to RET gene mutation: is there a causal relationship?		164761	5273	1	2000												
133694	Y	C-cell hyperplasia	OTHER	OTH	Adenoma|Carcinoma, Papillary|Thyroid Neoplasms|Neoplasms, Radiation-Induced|Cell Transformation, Neoplastic|Hyperplasia	10	10q11.2	RET	42892522	42945803		Bounacer A et al. 2002	12085189				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			British journal of cancer. 2002 Jun;86(12):1929-36	Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue.		164761	5274	1	2002												
133688		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	X	Xq28	RENBP	152853916	152863426		Sunder-Plassmann, G.  et al. 2002	12394950				Renin binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002910.4			CDC GDPinfo	5973	Hs.158331			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		312420	27826	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
133689		atherosclerosis, coronary	CARDIOVASCULAR	CARD		X	Xq28	RENBP	152853916	152863426		Ortlepp, J. R.  et al. 2002	12446192				Renin binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002910.4			CDC GDPinfo	5973	Hs.158331			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		312420	28358	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
133690		papillary thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Carcinoma, Papillary|Thyroid Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Fugazzola L et al. 2002	11849247				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3		Italy	KGB	5979	Hs.350321			Clinical endocrinology. 2002 Jan;56(1):53-63	Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer.		164761	5270	1	2002	 We report a full clinical and molecular analysis of a large FMTC kindred with an uncommon RET mutation. In two family members, phenotype and genotype were not concordant, representing the first evidence of FMTC phenocopies. Furthermore, the association of familial forms of medullary and papillary thyroid cancers has been found in 30% of patients undergoing thyroidectomy for MTC. In these situations, genetic analyses excluded the possible germline involvement of RET. Though FMTC phenocopies are likely to represent an exceptional finding, such a possibility should be taken into account in the genetic counselling for MEN 2 syndromes.											
133684		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Kosachunhanun, N.  et al. 2003	14530292				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Hypertension. 2003 Nov;42(5):901-8	Genetic Determinants of Nonmodulating Hypertension		179820	27607	2	2003	Thus, the angiotensinogen, angiotensin-converting enzyme, and aldosterone synthase genotypes identified individuals with the nonmodulating phenotype with an increasing degree of fidelity. For this subclass of essential hypertension, it is likely that genotyping can be substituted for complex phenotyping for therapeutic and preventive decision making.	Cohort 298 subjects with hypertension 										
133685		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q32	REN	202390570	202402088		Hashizume, K.  et al. 2005	15914614				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Japanese	Japan	CDC GDPinfo	5972	Hs.3210			Investigative ophthalmology & visual science. 2005 Jun;46(6):1993-2001	Genetic polymorphisms in the angiotensin II receptor gene and their association with open-angle glaucoma in a Japanese population.		179820	27825	2	2005	 Angiotensin II receptor gene polymorphisms may be associated with the risk of glaucoma in the Japanese population.	Case:190/268 Japanese patients with primary open angle glaucoma (n=190) and with normal tension glaucoma (n=268);Control:240 normal subjects										
133686		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Liljedahl, U.  et al. 2003	12544508				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		179820	28582	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
133687	Y	renin binding protein	OTHER	OTH	Hypertension|Hypotension	X	Xq28	RENBP	152853916	152863426		Knoll A et al. 1997	9285790	intronic T/C polymorphism		intron	Renin binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002910.4			KGB	5973	Hs.158331	prorenin level in males		Human molecular genetics. 1997 Sep;6(9):1527-34	Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males.		312420	5269	1	1997												
133680		glaucoma; glaucoma, primary open-angle	VISION	VIS		1	1q32	REN	202390570	202402088		Rupert, J. L.  et al. 2003	12556231				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Indian		CDC GDPinfo	5972	Hs.3210			Annals of human genetics. 2003 Jan;67(Pt 1):17-25	Genetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations.		179820	26542	2	2003	There was no evidence for an over-representation of the RAS alleles associated with cardiovascular fitness in the high-altitude Amerindian population when compared to the lowland Amerindian population.	Cohort a high-altitude native Andean population and a lowland Amerindian population, Maya Zuechua and Yucatan peninsula, Peru 										
133681	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies	1	1q32	REN	202390570	202402088		Wu, S.  et al. 2000	11776100				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Chinese		CDC GDPinfo	5972	Hs.3210			Chinese medical journal. 2000 May;113(5):437-41	Relationship between the renin-angiotensin system genes and diabetic nephropathy in the Chinese.		179820	26543	2	2000	 Our study revealed RAS genes, ACE and AGT-M235T but not AGT-T174M, AGTR1 or REN genotypes, as contributing factors for DN in type 2 diabetes mellitus in Chinese.	Case diabetics with nephropathy;Case diabetics without nephropathy;Control not specified in abstract										
133683		hypertension	CARDIOVASCULAR	CARD	Hypertension|Emergencies	1	1q32	REN	202390570	202402088		Sunder-Plassmann, G.  et al. 2002	12394950				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Critical care medicine. 2002 Oct;30(10):2236-41	Angiotensin converting enzyme DD genotype is associated with hypertensive crisis		179820	27606	2	2002	 We demonstrate a possible association of the DD genotype with hypertensive crisis in men.	Case:182 patients with essential hypertension who were admitted to anemergency department for reeatment of hypertensive crisis;Control:182 age- and sex-matched healthy individuals										
133676	Y	hypertension; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Hyperlipidemias	1	1q32	REN	202390570	202402088		Frossard, P. M.  et al. 2001	11224002				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Journal of human hypertension. 2001 Jan;15(1):49-55	Haplotypes of the human renin gene associated with essential hypertension and stroke		179820	19226	2	2001	We conclude that  variations of the REN (or of a nearby) gene that may be in linkage disequilibrium with REN (BglI(-)/MboI(+)) and (BglI(+)/MboI(+)) alleles could play a role in contributing to increased individual's genetic susceptibility to EHT and to stroke. Journal of Human Hypertension(2001) 15, 49-55	Case:140 US Caucasian hypertensive subjects referred to UCSF Medical Center;Control:141 US Caucasian normotensive subjects referred to UCSF Medical Center;Case:48 US Caucasian hypertensive subjects referred to UCSF Medical Center who had suffered a stroke										
133677		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Maruyama, A.  et al. 2005	16036389				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2		Japan	CDC GDPinfo	5972	Hs.3210			Hypertension in pregnancy. 2005 ;24(1):39-48	Association study between the human Renin gene and preeclampsia.		179820	19231	2	2005	 The missense mutation G1051A in the human renin gene is not associated with PE.											
133678	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Ahmad, U.  et al. 2005	16138564			intron	Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2		United Arab Emirates	CDC GDPinfo	5972	Hs.3210			Hypertension research. 2005 Apr;28(4):339-44	Strong association of a renin intronic dimorphism with essential hypertension.		179820	19232	2	2005												
133679		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q32	REN	202390570	202402088		Taylor, A.  et al. 2001	11803527				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			American journal of medical genetics. 2001 Dec;105(8):761-4	Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.		179820	23331	2	2001	Thus, these polymorphisms are unlikely to be associated with AD risk.	Case Alzheimer's dissease cases:Britain;Control matched controls										
133673	N	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088	n	Fu Y 2001	11409653	Polymorphism Mbo I- RFLP			Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Japanese	Japan	KGB	5972	Hs.3210			Hypertension research. 2001 May;24(3):295-8	Lack of correlation between Mbo I restriction fragment length polymorphism of renin gene and essential hypertension in Japanese.		179820	8115	1	2001	These results suggest that the Mbo I (+) allele of the renin gene does not increase the risk for hypertension in Japanese.	Case:235 Patients recruited from outpatients at Osaka University Hospital and diagnosed with essential hypertension or receiving long-term antihypertensive medication:Japan;Control:510 Normotensive subjects without a history of hypertension and without di										
133674	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Fu, Y.  et al. 2001	11409653				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Japanese	Japan	CDC GDPinfo	5972	Hs.3210			Hypertension research. 2001 May;24(3):295-8	Lack of correlation between Mbo I restriction fragment length polymorphism of renin gene and essential hypertension in Japanese.		179820	13476	2	2001	These results suggest that the Mbo I (+) allele of the renin gene does not increase the risk for hypertension in Japanese.	Case:235 Patients recruited from outpatients at Osaka University Hospital and diagnosed with essential hypertension or receiving long-term antihypertensive medication:Japan;Control:510 Normotensive subjects without a history of hypertension and without diabetes mellitus Osaka University Hospital										
133675	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Hasimu, B.  et al. 2003	12862204				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Hypertension research. 2003 Jun;26(6):473-7	A novel variable number of tandem repeat polymorphism of the renin gene and essential hypertension.		179820	13479	2	2003	In summary, we discovered a novel VNTR polymorphism in the renin gene, and this polymorphism was not associated with EH.	Case essential hypertension patients;Control normotensive subjects										
133668	Y	aldosterone responsiveness to the renin-angiotensin system	METABOLIC	MET	Adenoma	1	1q32	REN	202390570	202402088		Klemm SA et al. 1993	7902711				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			KGB	5972	Hs.3210			Biochemical and biophysical research communications. 1993 Nov;197(1):197-201	Renin gene polymorphism associated with aldosterone responsiveness to the renin-angiotensin system in patients with aldosterone-producing adenomas.		179820	5264	1	1993												
133670		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Zee RY et al. 1991	1685742				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			KGB	5972	Hs.3210			Journal of hypertension. 1991 Sep;9(9):825-30	Association and linkage analyses of restriction fragment length polymorphisms for the human renin and antithrombin III genes in essential hypertension.		179820	5266	1	1991												
133671	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Frossard PM et al. 1999	10665661				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2		United States|United Arab Emirates	KGB	5972	Hs.3210			Clinical genetics. 1999 Dec;56(6):428-33	Human renin gene BglI dimorphism associated with hypertension in two independent populations.		179820	5267	1	1999												
133664		schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Goldberger, C.  et al. 2005	15965968				Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDPinfo	5649	Hs.558371			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):51-5	Population-based and family-based association study of 5'UTR polymorphism of the reelin gene and schizophrenia.		600514	13475	2	2005												
133665	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Akahane, A.  et al. 2002	12363388			5' promoter	Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDPinfo	5649	Hs.558371			Schizophrenia research. 2002 Nov;58(1):37-41	Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia.		600514	20171	2	2002	We found no significant association of schizophrenia with the trinucleotide repeat polymorphism of the reelin or VLDLR genes, suggesting that these polymorphisms do not have a major role in the pathogenesis of the disease.	Case:150 Japanese patients with schizophrenia;Control:150 controls matched for sex, age and ethnicity										
133666	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Chiang FT et al. 1997	9237498				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Chinese	China|Taiwan	KGB	5972	Hs.3210			Clinical genetics. 1997 Jun;51(6):370-4	Association of the renin gene polymorphism with essential hypertension in a Chinese population.		179820	5262	1	1997	We conclude that  the renin gene Hind III polymorphysm is associated with hypertension in this Chinese population.											
133667	Y	aldosterone responsiveness to the renin-angiotensin system	METABOLIC	MET	Adrenal Gland Neoplasms|Adrenocortical Adenoma	1	1q32	REN	202390570	202402088		Ballantine DM et al. 1994	7915644				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			KGB	5972	Hs.3210			Clinical and experimental pharmacology & physiology. 1994 Mar;21(3):215-8	Renin gene polymorphism associated with aldosterone responsiveness to the renin-angiotensin system in patients with aldosterone-producing adenomas.		179820	5263	1	1994												
133660	Y	autism	PSYCH	PSY	Autistic Disorder	7	7q22	RELN	102899472	103417198		Krebs MO et al. 2002	12192627			promoter	Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			KGB	5649	Hs.558371			Molecular psychiatry. 2002 ;7(7):801-4	Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.		600514	5159	1	2002												
133661	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Akahane A et al. 2002	12363388				Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			KGB	5649	Hs.558371			Schizophrenia research. 2002 Nov;58(1):37-41	Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia.		600514	5160	1	2002	We found no significant association of schizophrenia with the trinucleotide repeat polymorphism of the reelin or VLDLR genes, suggesting that these polymorphisms do not have a major role in the pathogenesis of the disease.	Case:150 Japanese patients with schizophrenia;Control:150 controls matched for sex, age and ethnicity										
133662	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q22	RELN	102899472	103417198		Persico, A. M.  et al. 2001	11317216				Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDPinfo	5649	Hs.558371			Molecular psychiatry. 2001 Mar;6(2):150-9	Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder.		600514	13473	2	2001	Our findings suggest that longer triplet repeats in the 5'UTR of the RELN gene confer vulnerability to autistic disorder.	Cohort 172 complete trios from 165 families collected in Italy and in the USA Italy and USA ;Control:186 ethnically matched controls;Case:95 autistic patients:Italian										
133663	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Chen, M. L.  et al. 2002	12082559			promoter	Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDPinfo	5649	Hs.558371			Molecular psychiatry. 2002 ;7(5):447-8	Identification of a single nucleotide polymorphism at the 5' promoter region of human reelin gene and association study with schizophrenia.		600514	13474	2	2002	In this study, we report no association of a novel putative functional SNP at the 5'-UTR of human reelin gene with schizophrenia. Our result should be interpreted with caution. First, SSCP is not a perfect mutation screening method, there might be other f	Control:255 on-psychotic controls;Case:279 Han Chinese schizophrenic patients										
133657	Y	diabetes, type 2	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2p12	REG1A	79201091	79204053		Banchuin, N.  et al. 2002	11796176				Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002909.3			CDC GDPinfo	5967	Hs.49407			Diabetes research and clinical practice. 2002 Feb;55(2):105-11	No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus.		167770	19225	2	2002	In conclusion, using PCR-SSCP and nucleotide sequence analyses, we did not find any association between abnormalities of either reg1alpha or reg1beta gene with any type of diabetes studied.	Control:22 normal controls;Case:37 patients with type 2 diabetes mellitus;Case:42 patients with type 1 diabetes mellitus										
133658		testicular cancer	CANCER	CAN	Testicular Neoplasms|Genetic Predisposition to Disease	11	11q13	RELA	65177647	65186951		Laska, M. J.  et al. 2005	15885892				V-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021975.2		Denmark	CDC GDPinfo	5970	Hs.502875			Cancer letters. 2005 Jul;225(2):245-51	Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.		164014	26541	2	2005	To our knowledge this is the first study of DNA repair gene polymorphisms and risk of testicular cancer.	Case:184 testicular cancer cases Copenhagen Greater Area in Denmark;Control:194 population-based controls										
133659	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Toyota T et al. 2002	12082559			promoter	Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			KGB	5649	Hs.558371			Molecular psychiatry. 2002 ;7(5):447-8	Identification of a single nucleotide polymorphism at the 5' promoter region of human reelin gene and association study with schizophrenia.		600514	5158	1	2002	In this study, we report no association of a novel putative functional SNP at the 5'-UTR of human reelin gene with schizophrenia. Our result should be interpreted with caution. First, SSCP is not a perfect mutation screening method, there might be other f	Control:255 on-psychotic controls;Case:279 Han Chinese schizophrenic patients										
133654		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	6	6p21.2-p12.3	RDS	42772318	42798287		Zhang, F.  et al. 1998	12579739				Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2	Chinese		CDC GDPinfo	5961	Hs.532150			Yan ke xue bao. 1998 Dec;14(4):210-4	[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa]		179605	19272	2	1998	 Mutation in the rhodopsin gene is the common cause in Chinese patients with retinitis pigmentosa, either autosomal dominant, recessive or sporadic.	Cohort 83 Chinese patients with retinitis pigmentosa 										
133655	Y	Rothmund-Thomson syndrome	OTHER	OTH	Osteosarcoma|Bone Neoplasms|Rothmund-Thomson Syndrome|Genetic Predisposition to Disease	8	8q24.3	RECQL4	145707478	145714008		Wang LL et al. 2003	12734318				RecQ protein-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004260.1			KGB	9401	Hs.31442	osteosarcoma		Journal of the National Cancer Institute. 2003 May;95(9):669-74	Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.		603780	6635	1	2003	 Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.											
133656	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2p12	REG1A	79201091	79204053	n	Banchuin N et al. 2002	11796176				Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002909.3			Y Wang	5967	Hs.49407			Diabetes research and clinical practice. 2002 Feb;55(2):105-11	No abnormalities of reg1 alpha and reg1 beta gene associated with diabetesmellitus.		167770	5261	1	2002	In conclusion, using PCR-SSCP and nucleotide sequence analyses, we did not find any association between abnormalities of either reg1alpha or reg1beta gene with any type of diabetes studied.	Control:22 normal controls;Case:37 patients with type 2 diabetes mellitus;Case:42 patients with type 1 diabetes mellitus										
133650	Y	pattern dystrophy of the retina	VISION	VIS	Retinal Degeneration	6	6p21.2-p12.3	RDS	42772318	42798287		Sears JE et al. 2001	11704030			splice variant	Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			American journal of ophthalmology. 2001 Nov;132(5):693-9	Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.		179605	5258	1	2001												
133652	Y	cone-rod dystrophy	VISION	VIS	Retinal Degeneration	6	6p21.2-p12.3	RDS	42772318	42798287		Nakazawa M et al. 1996	8912967				Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			Retina (Philadelphia, Pa). 1996 ;16(5):405-10	Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.		179605	5260	1	1996	 The mutation at codon 200 of the peripherin/RDS gene causes both cone and rod degeneration. The Val200Glu mutation results in a type of autosomal dominant CRD.											
133653		retinal dystrophy	UNKNOWN	UNK	Retinal Degeneration	6	6p21.2-p12.3	RDS	42772318	42798287		Budu,  et al. 2001	11485765	(Pro210Leu)			Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2	Japanese	Japan	CDC GDPinfo	5961	Hs.532150			Japanese journal of ophthalmology. 2001 Jul-Aug;45(4):355-8	Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.		179605	13472	2	2001	 A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa. The alterations of Val106Val, Glu304Gln, and Gly338Asp may be polymorphic variants in the Japanese population.	Control:100 healthy subjects:Japan;Case:54 unrelated Japanese patients with retinal:dystrophies:Japan										
133646	N	psoriasis	IMMUNE	IMM	Psoriasis	8	8q12.1	RDHE2	57375123	57395795		Matsuzaka, Y.  et al. 2004	15457346				Epidermal retinal dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138969.2			CDC GDPinfo	195814	Hs.170673			Mammalian genome. 2004 Aug;15(8):668-75	hRDH-E2 gene polymorphisms, variable transcriptional start sites, and psoriasis.			13471	2	2004	We conclude that  the polymorphisms that we detected for the hRDH-E2 gene do not contribute to the etiology of psoriasis but may be important in diseases of other tissues.	Case:100 psoriatic patients;Control:120:controls										
133648		bull's-eye maculopathy detected by nonradioisotopic SSCP	OTHER	OTH	Retinitis Pigmentosa|Retinal Diseases	6	6p21.2-p12.3	RDS	42772318	42798287		Kikawa E et al. 1994	8020945				Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			Genomics. 1994 Mar;20(1):137-9	A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.		179605	5256	1	1994												
133649	Y	Adult vitelliform macular dystrophy	VISION	VIS	Macular Degeneration	6	6p21.2-p12.3	RDS	42772318	42798287		Felbor U et al. 1997	9338584				Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			Human mutation. 1997 ;10(4):301-9	Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.		179605	5257	1	1997												
133642	Y	fundus albipunctatus	OTHER	OTH	Retinal Diseases	12	12q13-q14	RDH5	54400487	54404756		Liden M et al. 2001	11675386				Retinol dehydrogenase 5 (11-cis and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002905.2			KGB	5959	Hs.632719			The Journal of biological chemistry. 2001 Dec;276(52):49251-7	Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.		601617	5252	1	2001												
133644	Y	Fundus albipunctatus	OTHER	OTH	Night Blindness	12	12q13-q14	RDH5	54400487	54404756		Sekiya K 2003	12860821				Retinol dehydrogenase 5 (11-cis and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002905.2			KGB	5959	Hs.632719			Archives of ophthalmology. 2003 Jul;121(7):1057-9	Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.		601617	5254	1	2003												
133645		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	12	12q13-q14	RDH5	54400487	54404756		Watanabe, I.  et al. 2003	12732844				Retinol dehydrogenase 5 (11-cis and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002905.2	Japanese	Japan	CDC GDPinfo	5959	Hs.632719			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		601617	28638	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
133638		retinoblastoma	CANCER	CAN	Retinal Neoplasms|Retinoblastoma|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Schuler, A.  et al. 2005	15763650				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDPinfo	5925	Hs.408528			Eur J Cancer. 2005 Mar;41(5):735-40	Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect.		180200	19223	2	2005	Our data show that early age at diagnosis does not identify patients with isolated unilateral retinoblastoma that have a higher risk of being carriers of a RB1 gene mutation. Our findings suggest that, at least in some patients, age at diagnosis is modified by a parent-of-origin effect.	Cohort 188 children with completely resolved mutational status 										
133639		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Starinsky, S.  et al. 2004	15523694				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2		Israel	CDC GDPinfo	5925	Hs.408528			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		180200	28311	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
133640	Y	Leber congenital amaurosis/LCA	OTHER	OTH	Optic Atrophy, Hereditary, Leber|Blindness	14	14q24.1	RDH12	67258942	67270921		Perrault, I.  et al. 2004	15322982				Retinol dehydrogenase 12 (all-trans and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152443.1			CDC GDPinfo	145226	Hs.415322			American journal of human genetics. 2004 Oct;75(4):639-46	Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.		608830	19224	2	2004	Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia.	Cohort 110 unrelated patients with Leber congenital amaurosis 										
133635		retinoblastoma	CANCER	CAN	Retinal Neoplasms|Retinoblastoma	13	13q14.2	RB1	47775883	47954027		Cohen, J. G.  et al. 2001	11568901				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2		United States	CDC GDPinfo	5925	Hs.408528			Medical and pediatric oncology. 2001 Oct;37(4):372-8	RB1 genetic testing as a clinical service: afollow-up study.		180200	19220	2	2001	 This study demonstrates the feasibility of follow-up studies of families who had genetic testing. Results from our small series suggest that genetic information and counseling are important components of RB1 clinical genetic testing, and long-term adverse effects of testing are uncommon.	Cohort 52 of 71 eligible families who responded to a follow-up study questionnaire administered 3-10 years after receipt of their RB1 results 										
133636	Y	retinoblastoma	CANCER	CAN	Retinal Neoplasms|Retinoblastoma|Chromosome Deletion	13	13q14.2	RB1	47775883	47954027		Houdayer, C.  et al. 2004	14722923				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDPinfo	5925	Hs.408528			Human mutation. 2004 Feb;23(2):193-202	Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.		180200	19221	2	2004	This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach. Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.	Cohort 192 unrelated retinoblasoma patients 										
133637	Y	retinoblastoma	CANCER	CAN	Retinal Neoplasms|Retinoblastoma|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Sugano, K.  et al. 2004	15162822				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2	Japanese	Japan	CDC GDPinfo	5925	Hs.408528			International journal of clinical oncology. 2004 Feb;9(1):25-30	Outpatient clinic for genetic counseling and gene testing of retinoblastoma		180200	19222	2	2004	Gene testing is indicated in the medical practice of hereditary retinoblastoma for familial risk assessment, while prior counseling is important for an understanding of the risks and benefits of gene testing. With improvements in patient prognosis, counseling for adult survivors is increasing in importance. Assessment of genetic risk to the offspring and prevention of secondary cancer are the primary issues of concern. Presymptomatic diagnosis of infants is effective for the proper assessment of the genetic risk and for making follow-up schedules for the detection of the tumor at an early stage.	Cohort 1 individuals from 73 probands visiting the retinoblastoma clinic at the National Cancer Center Hospital Tokyo Apr, 1997-Sep, 2003 										
133632	Y	retinoblastoma is associated	OTHER	OTH	Retinal Neoplasms|Retinoblastoma	13	13q14.2	RB1	47775883	47954027		Klutz M et al. 2002	12016586			splice variant	Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			American journal of human genetics. 2002 Jul;71(1):174-9	A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.		180200	5250	1	2002												
133633		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Shu, Q.  et al. 2000	11832063				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDPinfo	5925	Hs.408528			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2000 May;38(5):375-7	[Genetic polymorphisms of Rb and susceptibility of esophageal cancer]		180200	13469	2	2000	 Polymorphism of Rb (intron 20) VNTR and Rb (intron 17) could be used as valuable markers. There should bea relationship between polymorphism of Rb VNTR and esophageal cancer susceptibility.	Case:31 pericancerous non-tumour samples:Shaanxi, China;Control:56 normal Han Chinese individuals:Shaanxi, China										
133634	N	retinoblastoma	CANCER	CAN	Retinoblastoma|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Kadam-Pai, P.  et al. 2003	14631100				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2	Chinese	Asia	CDC GDPinfo	5925	Hs.408528			Journal of genetics. 2003 Apr-Aug;82(2-Jan):33-7	Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations		180200	13470	2	2003	No significant difference was found between Chinese case patients and control subjects. This RB1 SNP appears to be an ethnic variant prevalent in Southeast Asian populations and may be useful for studying RB1 inheritance by pedigree analysis.	Case Chinese retinoblastoma cases;Control:controls:Cohort normal Southeast Asian populations (Chinese, Malay, Javanese, Thai, Filipino), in South Asian populations (Bangladeshi, Pakistani Pushtun and:Indian) Southeast Asia and South Asia										
133628	N	isolated unilateral retinoblastoma	OTHER	OTH	Retinoblastoma	13	13q14.2	RB1	47775883	47954027	n	Lohmann DR et al. 1999	10533490				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			Eur J Cancer. 1999 Jun;35(6):1035-6	No association between the presence of a constitutional RB1 gene mutation and age in 68 patients with isolated unilateral retinoblastoma.		180200	5246	1	1999												
133629		endometrial adenocarcinoma	CANCER	CAN	Adenocarcinoma|Uterine Neoplasms|Chromosome Deletion	13	13q14.2	RB1	47775883	47954027		Enomoto T et al. 1993	8105795				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			Molecular carcinogenesis. 1993 ;8(3):132-7	Alterations of the Rb gene and its association with Ki-ras activation and p53 inactivation in endometrial adenocarcinoma.		180200	5247	1	1993												
133630	Y	osteosarcoma	CANCER	CAN	Osteosarcoma|Retinoblastoma|Eye Neoplasms|Orbital Neoplasms|Neoplasms, Multiple Primary	13	13q14.2	RB1	47775883	47954027		Issing WJ et al. 1993	8217129				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			European archives of oto-rhino-laryngology. 1993 ;250(5):277-80	An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma.		180200	5248	1	1993												
133631		gliomas	CANCER	CAN	Glioma|Brain Neoplasms	13	13q14.2	RB1	47775883	47954027		Rothberg PG et al. 1997	9210953			intron	Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			Molecular carcinogenesis. 1997 Jun;19(2):69-73	A deletion polymorphism due to Alu-Alu recombination in intron 2 of the retinoblastoma gene: association with human gliomas.		180200	5249	1	1997												
133624	Y	breast cancer	CANCER	CAN	Fibroadenoma|Breast Neoplasms	3	3p21.3	RASSF1	50342220	50353371		Schagdarsurengin, U.  et al. 2005	15942659	codon 133			Ras association (RalGDS/AF-6) domain family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007182.4			CDC GDPinfo	11186	Hs.476270			International journal of oncology. 2005 Jul;27(1):185-91	A polymorphism at codon 133 of the tumor suppressor RASSF1A is associated with tumorous alteration of the breast.		605082	13467	2	2005												
133625	Y	lung cancer; colorectal cancer; esophageal cancer; head and neck cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Colorectal Neoplasms|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	3	3p21.3	RASSF1	50342220	50353371		Kanzaki, H.  et al. 2005	16125301	codon 133			Ras association (RalGDS/AF-6) domain family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007182.4			CDC GDPinfo	11186	Hs.476270			Cancer letters. 2005	Single nucleotide polymorphism at codon 133 of the RASSF1 gene is preferentially associated with human lung adenocarcinoma risk.		605082	13468	2	2005			smoking (tobacco)									
133626	Y	microphthalmia	OTHER	OTH	Microphthalmos	18	18q21.32	RAX	55085246	55091605		Ferda Percin E et al. 2000	10932181				Retina and anterior neural fold homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013435.1			KGB	30062	Hs.278957			Nature genetics. 2000 Aug;25(4):397-401	Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.			6752	1	2000												
133627	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Chromosome Deletion	13	13q14.2	RB1	47775883	47954027		Berns EM et al. 1995	7615356				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			KGB	5925	Hs.408528			International journal of cancer. Journal international du cancer. 1995 Apr;64(2):140-5	Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer without effect on survival.		180200	5245	1	1995												
133621	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	12	12q13	RARG	51890619	51912303		Feng, J.  et al. 2005	15635645				Retinoic acid receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000966.3			CDC GDPinfo	5916	Hs.1497			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180190	26540	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
133622		non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	3	3p21.3	RASSF1	50342220	50353371		Endoh H 2003	12794755				Ras association (RalGDS/AF-6) domain family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007182.4			KGB	11186	Hs.476270			International journal of cancer. Journal international du cancer. 2003 Aug;106(1):45-51	RASSF1A gene inactivation in non-small cell lung cancer and its clinical implication.		605082	6714	1	2003												
133623		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p21.3	RASSF1A	50342220	50353371		Dammann R et al. 2001	11306494				Ras association (RalGDS/AF-6) domain family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170715			KGB	11186	Hs.476270			Cancer research. 2001 Apr;61(7):3105-9	Hypermethylation of the cpG island of Ras association domain family 1A (RASSF1A) a putative tumor suppressor gene from the 3p21.3 locus occurs in a large percentage of human breast cancers.			6715	1	2001												
133617		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	17	17q21	RARA	35718971	35820467			16311697				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2			CDC GDPinfo	5914	Hs.137731			Rev Med Chil. 2005 Sep;133(9):1051-8	[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population.]		180240	23328	2	2005												
133618	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	17	17q21	RARA	35718971	35820467		Feng, J.  et al. 2005	15635645				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2			CDC GDPinfo	5914	Hs.137731			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180240	23329	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
133619		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	17	17q21	RARA	35718971	35820467		Murray, J. C.   2002	12030886				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2			CDC GDPinfo	5914	Hs.137731			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		180240	27984	2	2002	Review article											
133614	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	12	12q13.1	RAPGEF3	46424502	46438695		Chen, X.  et al. 2004	15274052				Rap guanine nucleotide exchange factor (GEF) 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U78169			CDC GDPinfo	10411	Hs.8578			American journal of medical genetics Part B, Neuro	Association study of the Epac gene and tobacco smoking and nicotine dependence.		606057	16507	2	2004	Considering the function of the gene in cellular signal transduction pathway, its elevated expression after nicotine self-administration, and multiple markers association with both SI and progression to ND, it is plausible to suggest that variants in Epac contribute to the liability to ND.	Case:215/229 low-nicotine (n=215) and high-nicotine (n=229) dependent smokers;Control:244:non-smokers										
133615		oral clefts	OTHER	OTH	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	17	17q21	RARA	35718971	35820467		Mitchell LE 2003	12835288				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2	Danish	Denmark	KGB	5914	Hs.137731			American journal of epidemiology. 2003 Jul;158(1):69-76	Retinoic acid receptor alpha gene variants, multivitamin use~~~ and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark~~~ 1991-1994.		180240	5244	1	2003	Consistent with several previous studies, the authors' analyses indicated that maternal multivitamin supplement use protects against CL+/-P. Within the range observed in this population, higher levels of vitamin A intake from multivitamins and liver sources also seemed to protect against CL+/-P. Exploratory analyses suggested that the latter association was not entirely explained by the association between CL+/-P and multivitamin use, indicating that adequate levels of vitamin A may be required for normal development of the primary palate.	Case Danish CL+/-P or isolated cleft palate subjects;Control:controls										
133616		cleft lip with cleft palate; cleft lip without cleft palate	OTHER	OTH	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	17	17q21	RARA	35718971	35820467		Mitchell, L. E.  et al. 2003	12835288				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2		Denmark	CDC GDPinfo	5914	Hs.137731			American journal of epidemiology. 2003 Jul;158(1):69-76	Retinoic acid receptor alpha gene variants, multivitamin use, and liver intake as risk factors for oral clefts: a population-based case-controlstudy in Denmark, 1991-1994.		180240	19218	2	2003	Consistent with several previous studies, the authors' analyses indicated that maternal multivitamin supplement use protects against CL+/-P. Within the range observed in this population, higher levels of vitamin A intake from multivitamins and liver sources also seemed to protect against CL+/-P. Exploratory analyses suggested that the latter association was not entirely explained by the association between CL+/-P and multivitamin use, indicating that adequate levels of vitamin A may be required for normal development of the primary palate.	Case Danish CL+/-P or isolated cleft palate subjects;Control:controls										
133610	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Experimental|Arthritis, Rheumatoid	14	14q32	RAGE	101760589	101841284		Hofmann, M. A.  et al. 2002	12070776				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Genes and immunity. 2002 May;3(3):123-35	RAGE and arthritis: the G82S polymorphism amplifiesthe inflammatory response.		605762	19215	2	2002	These data suggest that RAGE 82S upregulates the inflammatory response upon engagement of S100/calgranulins, and, thereby, may contribute to enhanced proinflammatory mechanisms in immune/inflammatory diseases.	Case patients with rheumatoid arthritis;Control:controls										
133611	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Rudofsky, G.  et al. 2004	15052533			promoter	Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Experimental and clinical endocrinology & diabetes. 2004 Mar;112(3):135-41	A 63bp Deletion in the Promoter of RAGE Correlates with a Decreased Risk for Nephropathy in Patients with Type 2 Diabetes		605762	19216	2	2004	We conclude, that patients with type 2 diabetes and the 63bp deletion in the promoter of RAGE seem to be protected from diabetic nephropathy. The observed difference between type 1 and type 2 diabetes might point to diverse pathomechanisms of nephropathy in both types of diabetes.	Control:475 patients with osteoporosis serings disease independent control;Case:559/528 patients with type 1 diabetes (n = 559) and type 2:diabetes (n = 528)										
133613		retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Radha, V.  et al. 2002	12090088				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		605762	26539	2	2002	Review article											
133606	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Diabetic Nephropathies|Myocardial Ischemia|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Dos Santos, K. G.  et al. 2005	15896660	-374T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		Brazil	CDC GDPinfo	5891	Hs.104119			Molecular genetics and metabolism. 2005 Jun;85(2):149-56	The -374A allele of the receptor for advanced glycation end products gene is associated with a decreased risk of ischemic heart disease in African-Brazilians with type 2 diabetes.		605762	13463	2	2005	Thus, our results show that the -374A allele (-374T>A polymorphism) in the RAGE gene is related to the susceptibility of developing ischemic heart disease in African-Brazilians with type 2 diabetes.	Control Brazilians with type 2 diabetes without associated:complications;Case Brazilians with type 2 diabetes and associated:complications										
133608	N	myocardial infarct; heart disease, ischemic; atherosclerosis, coronary; cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Hofmann, M. A.  et al. 2005	16159602	Gly82Ser			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		Massachusetts	CDC GDPinfo	5891	Hs.104119			Atherosclerosis. 2005 Oct;182(2):301-5	The RAGE Gly82Ser polymorphism is not associated with cardiovascular disease in the Framingham offspring study.		605762	13465	2	2005												
133609		insulin	METABOLIC	MET	Insulin Resistance	14	14q32	RAGE	101760589	101841284			16305072				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		Great Britain	CDC GDPinfo	5891	Hs.104119			Diabetes & vascular disease research. 2005 Feb;2(1):42-4	RAGE polymorphisms and the heritability of insulin resistance: the Leeds family study		605762	13466	2	2005	 These preliminary results indicate that the RAGE gene may affect the development of insulin resistance or be in linkage disequilibrium with a locus involved in this process.											
133603	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Falcone, C.  et al. 2005	15748606	-374T/A		promoter	Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Clinica chimica acta; international journal of clinical chemistry. 2005 Apr;354(2-Jan):111-6	-374T/A polymorphism of the RAGE gene promoter in relation to severity of coronary atherosclerosis.		605762	13460	2	2005	 Our data suggest that the RAGE -374T/A polymorphism is one of the likely candidate determinants for the genetic variance of disease phenotype in coronary atherosclerosis.	Cohort 234 consecutive Caucasian patients with angiographically proven CAD 										
133604	N	diabetes, type 2; albuminuria	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Yoshioka, K.  et al. 2005	15798956	G1704T			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Japanese	Japan	CDC GDPinfo	5891	Hs.104119			Metabolism:  clinical and experimental. 2005 Apr;54(4):488-91	Association study of G1704T and G82S polymorphisms of RAGE gene for microalbuminuria in Japanese type 2 diabetic patients.		605762	13461	2	2005	These data suggest that G1704T and G82S polymorphisms of the RAGE gene are not related to microalbuminuria in Japanese type 2 diabetic patients.	Case:116 type 2 diabetic subjects with microalbuminuria;Control:232 patients with normoalbuminuria										
133605	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	14	14q32	RAGE	101760589	101841284		Prevost, G.  et al. 2005	15803111				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Caucasian		CDC GDPinfo	5891	Hs.104119			Diabetes & metabolism. 2005 Feb;31(1):35-9	Polymorphisms of the receptor of advanced glycation endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients.		605762	13462	2	2005	 These data suggest that the 82 Ser allele of the RAGE gene is a risk allele for developing advanced nephropathy. This suggests that some RAGE gene polymorphisms may be associated with progression to diabetic advanced nephropathy in Caucasian type 1 diabetic patients.	Control:351:controls;Case:487 type 1 diabetic patients with proliferative retinopathy subdivided into four groups according to their level of renal involvement										
133600	N	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Vitreoretinopathy, Proliferative|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Petrovic, M. G.  et al. 2003	14704946	- 429 T/C and - 374 T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Caucasian		CDC GDPinfo	5891	Hs.104119			Klin Monatsbl Augenheilkd. 2003 Dec;220(12):873-6	The - 429 T/C and - 374 T/A Gene Polymorphisms of the Receptor of Advanced Glycation End Products Gene are not Risk Factors for Diabetic Retinopathy in Caucasians with Type 2 Diabetes		605762	13457	2	2003	 Our study failed to demonstrate an association between either - 429 T/C or - 374 T/A gene polymorphism of the RAGE gene and diabetic retinopathy in Caucasians with type 2 diabetes. Additionally, we failed to demonstrate an association between either - 429 T/C or - 374 T/A gene polymorphism of the RAGE gene and proliferative diabetic retinopathy in Caucasians with type 2 diabetes.	Case:116 subjects with type 2 diabetes with diabetic:retinopathy;Control:70 diabetic subjects without retinopathy										
133601	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Falcone, C.  et al. 2004	15547674	-374T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			International journal of molecular medicine. 2004 Dec;14(6):1061-4	Relationship between the -374T/A RAGE gene polymorphism and angiographic coronary artery disease.		605762	13458	2	2004	Our observations suggest that the -374T/A polymorphism of the RAGE gene may reduce susceptibility to CAD, thus exerting a protective effect on coronary risk. Future pathophysiological studies may be worthwhile to clarify the mechanisms behind this association.	Case:175 non-diabetic individuals with documented coronary artery disease;Control:84 non-diabetic individuals with normal coronary:angiography										
133602	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Kirbis, J.  et al. 2004	15666591	-429 T/C and -374 T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Slovene	Slovakia	CDC GDPinfo	5891	Hs.104119			Collegium antropologicum. 2004 Dec;28(2):611-6	The -429 T/C and -374 T/A gene polymorphisms of the receptor of advanced glycation end products gene (RAGE) are not risk factors for coronary artery disease in Slovene population with type 2 diabetes.		605762	13459	2	2004	Our study failed to demonstrate an association between either the -429T/C or the -374T/A gene polymorphism of the RAGE gene and CAD in the Slovene population with type 2 diabetes of duration longer than 10 years.	Case:168 Slovenian subjects with diabetes and coronary artery disease;Control:241 diabetic subjects without coronary artery disease										
133597	Y	psoriasis	IMMUNE	IMM	Psoriasis	14	14q32	RAGE	101760589	101841284		Vasku, V. = V et al. 2002	12029499	(G82S, 1704G/T, 2184A/G and 2245G/A)			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Archives of dermatological research. 2002 May;294(3):127-30	Gene polymorphisms (G82S, 1704G/T, 2184A/G and 2245G/A) of the receptor of advanced glycation end products (RAGE) in plaque psoriasis.		605762	13454	2	2002	We conclude that  the 2184G allele of the RAGE gene is a significant risk factor for plaque psoriasis. The risk is associated with the non-presence of some common, especially cardiovascular, diseases in psoriatic patients.	Case:130 patients with plaque psoriasis;Control:142 healthy control subjects of comparable age and sex:distribution										
133598		retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Kumaramanickavel, G.  et al. 2002	12477623	Gly82Ser			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Indian	India	CDC GDPinfo	5891	Hs.104119			Journal of diabetes and its complications. 2002 Nov-Dec;16(6):391-4	Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy in type II diabetic Asian Indian patients.		605762	13455	2	2002	Our result suggests that Ser82 allele in the receptor for AGE gene is a low-risk allele for developing DR in Asian Indian patients who have type II diabetes.	Case:200 Asian Indian patients with at least 15-year duration of type 2 diabetes;Control:50 unrelated healthy controls										
133599	Y	cardiovascular disease; diabetes, type 1; proteinuria	CARDIOVASCULAR	CARD	Diabetic Nephropathies|Proteinuria|Albuminuria|Cardiovascular Diseases|Diabetes Mellitus, Type 1	14	14q32	RAGE	101760589	101841284		Pettersson-Fernholm, K.  et al. 2003	12606536	-374 T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		Finland	CDC GDPinfo	5891	Hs.104119			Diabetes. 2003 Mar;52(3):891-4	The functional -374 T/A RAGE gene polymorphism is associated with proteinuria and cardiovascular disease in type 1 diabetic patients.		605762	13456	2	2003	Thus, the association between the RAGE -374 T/A homozygous AA genotype and cardiovascular disease as well as albumin excretion in type 1 diabetic patients with poor metabolic control suggests a gene-environment interaction in the development of diabetic nephropathy and cardiovascular complications.	Cohort 996 Finnish type 1 diabetics 										
133593		nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	14	14q32	RAGE	101760589	101841284		Poirier, O.  et al. 2001	11334430				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Diabetes. 2001 May;50(5):1214-8	Polymorphism screening of four genes encoding advanced glycation end-product putative receptors. Association study with nephropathy in type 1 diabetic patients.		605762	13449	2	2001	Overall, none of the polymorphisms was strongly associated with nephropathy. The minor allele of a polymorphism located in the promoter region of the RAGE gene (C-1152A) conferred a weak protective effect (P < 0.05) and was associated with a longer duration of nephropathy-free diabetes (P = 0.08).	Control:193 type 1 diabetic patients without nephropathy;Case:199 type 1 diabetic patients with nephropathy										
133594	Y	retinopathy, diabetic	RENAL	REN	Diabetic Retinopathy	14	14q32	RAGE	101760589	101841284		Hudson, B. I.  et al. 2001	11375354				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Diabetes. 2001 Jun;50(6):1505-11	Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy.		605762	13450	2	2001	These data suggest that the polymorphisms involved in differences in RAGE gene regulation may influence the pathogenesis of diabetic vascular complications.	Case:106 type 2 diabetic subjects with retinopathy;Control:109 type 2 diabetic subjects without retinopathy										
133596	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Holla, L. I.  et al. 2001	11811511				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Journal of periodontology. 2001 Dec;72(12):1742-6	Distribution of the receptor for advanced glycation end products gene polymorphisms in patients with chronic periodontitis: a preliminary study.		605762	13453	2	2001	 We can speculate that susceptibility to the development of chronic periodontitis could be influenced by the 1704G/T polymorphism of the RAGE gene, independently of diabetes.	Case:101 Caucasian patients with chronic periodontitis;Control:162 orally healthy subjects										
133590		breast cancer	CANCER	CAN	Breast Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Goode, E. L.  et al. 2002	12036913				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2			CDC GDPinfo	5893	Hs.642610			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		600392	28451	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
133591		brain cancer	CANCER	CAN	Meningioma	1	1p32	RAD54L	46486003	46516732		Leone, P. E.  et al. 2003	12614485	(2290C/T)			RAD54-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003579.2		Spain	CDC GDPinfo	8438	Hs.523220			BMC cancer [electronic resource]. 2003 Mar;3:6	Implications of a RAD54L polymorphism (2290C/T) in human meningiomas as a risk factor and/or a genetic marker.		603615	13447	2	2003	 The statistical analysis of genotypes at the 2290C/T polymorphism suggest an association between the rare T allele and the development of meningeal tumours. This polymorphism can be used as a genetic marker inside the consensus deletion region at 1p32 in meningiomas.	Control:287 blood control samples:Spain;Case:70:mingiomas Spain and Ecuador										
133592	Y	lung cancer, non-small cell	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Schenk, S.  et al. 2001	11282423			promoter	Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDPinfo	5891	Hs.104119			Lung cancer (Amsterdam, Netherlands). 2001 Apr;32(1):12-Jul	A novel polymorphism in the promoter of the RAGE gene is associated with non-small cell lung cancer.		605762	13448	2	2001	The cumulative occurrence of the AA variant in NSCLC suggests that this genotype is a putative risk factor for NSCLC development.	Case:54 non-small cell lung cancer patients;Control:59 non-cancer controls										
133587		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12p13-p12.2	RAD52	891515	969480		Kuschel, B.  et al. 2002	12023982				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2			CDC GDPinfo	5893	Hs.642610			Human molecular genetics. 2002 Jun;11(12):1399-407	Variants in DNA double-strand break repair genes and breast cancer susceptibility.		600392	25484	2	2002	These data provide some evidence that variants in XRCC2 and LIG4 alter breast cancer risk, together with stronger evidence that variants of XRCC3 are associated with risk. If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis.	Control:1826:controls;Case:2205 cases of breast cancer										
133588	N	ovarian cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Ovarian Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Tong, D.  et al. 2003	12883740				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2		Austria	CDC GDPinfo	5893	Hs.642610			Oncology reports. 2003 Sep-Oct;10(5):1551-3	Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.		600392	26538	2	2003	There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic ovarian cancer patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the Rad52 do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer.	Control:128 healthy volunteers;Case:142 Austrian ovarian carcinoma patients										
133589		breast cancer	CANCER	CAN	Breast Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Lee, K. M.  et al. 2005	15958648				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2			CDC GDPinfo	5893	Hs.642610			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		600392	27605	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
133584		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q22-q23	RAD51C	54124961	54166691		Goode, E. L.  et al. 2002	12036913				RAD51 homolog C (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_058216.1			CDC GDPinfo	5889	Hs.412587			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		602774	28422	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
133585		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q11	RAD51L3	30360243	30472625		Rodriguez-Lopez, R.  et al. 2004	15170666				RAD51-like 3 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002878.2			CDC GDPinfo	5892	Hs.631757			International journal of cancer. Journal international du cancer. 2004 Jul;110(6):845-9	The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.		602954	23327	2	2004	Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.	Case:174/765 familial breast cancer cases that are not associated with the BRCA1/2 genes (n=174) and another subset of breast cancer patients (n=765);Control:567:controls										
133586	N	ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Kelemen, L.  et al. 2005	15670896	Y415X			RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2	Australian		CDC GDPinfo	5893	Hs.642610			Cancer letters. 2005 Feb;218(2):191-7	RAD52 Y415X truncation polymorphism and epithelial ovarian cancer risk in Australian women.		600392	13446	2	2005	The risk estimate was 0.55 (95%CI 0.24-1.24), suggesting that the RAD52 Y415X polymorphism is not associated with epithelial ovarian cancer in Australian women.	Control:298 healthy controls;Case:508 epitherlail ovarian cancer cases:Australia										
133581		cytogenetic studies	OTHER	OTH		15	15q15.1	RAD51	38774660	38811646		Schlade-Bartusiak, K.  et al. 2004	15036125				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Mutation research. 2004 Mar;558(2-Jan):121-30	Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes.		179617	26537	2	2004	Our study shows that the combined analysis of polymorphisms in metabolizing enzymes may lead to a better understanding of their contribution to an individual's susceptibility to DEB.	Cohort 63 healthy donors 										
133582		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q15.1	RAD51	38774660	38811646		Lee, K. M.  et al. 2005	15958648				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		179617	27190	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
133583		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	17	17q22-q23	RAD51C	54124961	54166691		Rodriguez-Lopez, R.  et al. 2004	15170666	E233G			RAD51 homolog C (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_058216.1			CDC GDPinfo	5889	Hs.412587			International journal of cancer. Journal international du cancer. 2004 Jul;110(6):845-9	The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.		602774	13445	2	2004	Finally, the structural prediction of the putative functional consequence of this change indicates that it can diminish protein stability and structure. This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.	Case:174/765 familial breast cancer cases that are not associated with the BRCA1/2 genes (n=174) and another subset of breast cancer patients (n=765);Control:567:controls										
133578	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Wang, W. W.  et al. 2001	11535547				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2		United States|Israel|Australia	CDC GDPinfo	5888	Hs.631709			Cancer epidemiology, biomarkers & prevention. 2001 Sep;10(9):955-60	A Single Nucleotide Polymorphism in the 5' Untranslated Region of RAD51 and Risk of Cancer among BRCA1/2 Mutation Carriers		179617	25481	2	2001	We have identified a RAD51 5' untranslated region SNP that may be associated with an increased risk of breast cancer and a lower risk of ovarian cancer among BRCA2 mutation carriers. The biochemical basis of this risk modifier is currently unknown.	Control:119 women without breast cancer;Case:67 breast cancer cases										
133579	Y	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Kadouri, L.  et al. 2004	15138485				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			British journal of cancer. 2004 May;90(10):2002-5	A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers.		179617	25482	2	2004	These results indicate significantly elevated risk for BC in carriers of BRCA2 mutations who also carry a RAD51-135c allele. In BRCA1 carriers and noncarriers, no effect for this SNP was found.	Control:152 women unaffected with breast cancer;Case:309/166 BRCA1/2 mutation carriers (n=309) and noncarrier breast cancer patients (n=166)										
133580		ovarian cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Ovarian Neoplasms	15	15q15.1	RAD51	38774660	38811646		Tong, D.  et al. 2003	12883740				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2		Austria	CDC GDPinfo	5888	Hs.631709			Oncology reports. 2003 Sep-Oct;10(5):1551-3	Rad52 gene mutations in breast/ovarian cancer families and sporadic ovarian carcinoma patients.		179617	25483	2	2003	There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic ovarian cancer patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the Rad52 do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer.	Control:128 healthy volunteers;Case:142 Austrian ovarian carcinoma patients										
133575		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Kuschel, B.  et al. 2002	12023982				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Human molecular genetics. 2002 Jun;11(12):1399-407	Variants in DNA double-strand break repair genes and breast cancer susceptibility.		179617	23325	2	2002	These data provide some evidence that variants in XRCC2 and LIG4 alter breast cancer risk, together with stronger evidence that variants of XRCC3 are associated with risk. If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis.	Control:1826:controls;Case:2205 cases of breast cancer										
133576		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	15	15q15.1	RAD51	38774660	38811646		Wang, L. E.  et al. 2004	15313891				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Cancer research. 2004 Aug;64(16):5560-3	Polymorphisms of DNA repair genes and risk of glioma.		179617	23326	2	2004	These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.	Case:309 patients with newly diagnosed glioma;Control:342 cancer-free control participants matched on age										
133577	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	15	15q15.1	RAD51	38774660	38811646		Levy-Lahad, E.  et al. 2001	11248061				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Proceedings of the National Academy of Sciences of the United States of America. 2001 Mar;98(6):3232-6	A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.		179617	25480	2	2001	These results show RAD51-135C is a clinically significant modifier of BRCA2 penetrance, specifically in raising breast cancer risk at younger ages.	Cohort 257 female Ashkenazi Jewish carriers of one of the common BRCA1 (185delAG, 5382insC) or BRCA2 (6174delT) mutations 										
133572	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	15	15q15.1	RAD51	38774660	38811646		Webb, P. M.  et al. 2005	15734952				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):319-23	Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer.		179617	13443	2	2005	Although there was little statistical power to detect modest increases in risk for the homozygote variant genotypes, particularly for the rare RAD51 and XRCC2 variants, the data suggest that none of these variants play a major role in the etiology of breast or ovarian cancer.	Case:1,456 breast cancer cases;Control:335 controls of similar age distribution to ovarian cancer cases;Case:549 incident ovarian cancer cases:Austrailia;Control:793 age-matched controls										
133573	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Jakubowska, A.  et al. 2003	12750242				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2	Polish	Poland	CDC GDPinfo	5888	Hs.631709			Cancer epidemiology, biomarkers & prevention. 2003 May;12(5):457-9	Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland.		179617	23323	2	2003	This finding suggests that RAD51 is a genetic modifier of breast cancer risk in BRCA1 carriers in the Polish population. It will be of interest to confirm this in other populations as well.	Case:83 breast cancer cases who were carriers of the BRCA1 5382insC mutation;Control:83 women with the BRCA1 5382insC mutation but were:unaffected										
133574		breast cancer	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms	15	15q15.1	RAD51	38774660	38811646		Sliwinski, T.  et al. 2005	16261408				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Breast cancer research and treatment. 2005 Nov;94(2):105-9	Polymorphisms of the BRCA2 and RAD51 Genes in Breast Cancer.		179617	23324	2	2005												
133569		lung cancer	CANCER	CAN	Lung Neoplasms	9	9q31.2	RAD23B	109085364	109134291		Shen, M.  et al. 2005	15849729				RAD23 homolog B (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002874.3	Chinese		CDC GDPinfo	5887	Hs.521640			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		600062	27189	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
133570	N	breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis	15	15q15.1	RAD51	38774660	38811646		Blasiak, J.  et al. 2003	12673366				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Acta biochimica Polonica. 2003 ;50(1):249-53	Analysis of the G/C polymorphism in the 5'-untranslated region of the RAD51 gene in breast cancer.		179617	13440	2	2003	Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and/or progression of breast cancer and so it may not be useful as an independent marker in this disease.	Case postmenopausal women with node-negative and node-positive breast carcinoma with uniform tumor:size;Control age matched healthy women										
133571		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|DNA Damage|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Seedhouse, C.  et al. 2004	15102670				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDPinfo	5888	Hs.631709			Clinical cancer research. 2004 Apr;10(8):2675-80	Polymorphisms in genes involved in homologous recombination repair interact to increase the risk of developing acute myeloid leukemia		179617	13442	2	2004	 These results strongly suggest that DNA double-strand breaks and their repair are important in the pathogenesis of both de novo and t-AML.	Control:186 contol subjects;Case:216/51 cases of de novo acute myeloid leukemia (n=216) and cases of therapy-related acute myeloid leukemia:(n=51)		RAD51	135C	XRCC3	241Met			Y		acute myeloid leukemia
133565	N	obesity	METABOLIC	MET	Obesity	17	17q21.1	PYY	39385632	39437363		Hung, C. C.  et al. 2004	15331560				Peptide YY	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004160.3			CDC GDPinfo	5697	Hs.169249			Diabetes. 2004 Sep;53(9):2461-6	Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits		600781	23321	2	2004	In conclusion, mutations in PYY and Y2R are not commonly found in humans with severe early-onset obesity. The relationship between common variants in Y2R and obesity-related traits deserves further exploration in other populations.	Control:100 normal-weight white control subjects;Case:101 severe early-onset obese subjects with a history of:hyperphagia										
133566		obesity	METABOLIC	MET	Obesity|Obesity, Morbid	17	17q11	PYY2	23577715	23579212		Ma, L.  et al. 2005	15855352				Peptide YY, 2 (seminalplasmin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NR_003064.2	Pima Indian	Arizona	CDC GDPinfo	23615	Hs.157195			Diabetes. 2005 May;54(5):1598-602	Variations in peptide YY and Y2 receptor genes are associated with severe obesity in Pima Indian men.		606637	23322	2	2005	Our data suggest that the PYY-Y2R pathway may influence body weight through a sex-specific mechanism, but this finding requires confirmation in other populations.	Control:127 nondiabetic, nonobese subjects;Case:362 extemely obese Pima Indians										
133568	Y	neutrophil immunodeficiency syndrome	IMMUNE	IMM	Immunologic Deficiency Syndromes	22	22q13.1	RAC2	35951255	35970251		Ambruso DR et al. 2000	10758162				Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002872.3			KGB	5880	Hs.517601			Proceedings of the National Academy of Sciences of the United States of America. 2000 Apr;97(9):4654-9	Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.		602049	5243	1	2000												
133562	Y	McArdle disease	METABOLIC	MET	Glycogen Storage Disease Type V	11	11q12-q13.2	PYGM	64270605	64284763		Iyengar S et al. 1997	9152836				Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005609.1			KGB	5837	Hs.154084			Journal of medical genetics. 1997 May;34(5):391-4	Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.		608455	5242	1	1997												
133563	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	17	17q21.1	PYY	39385632	39437363	0.006	Torekov, S. S.  et al. 2005	15983231	Arg72		coding sequence	Peptide YY	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004160.3	Danish		CDC GDPinfo	5697	Hs.169249			Diabetes. 2005 Jul;54(7):2261-5	Evidence of an association between the Arg72 allele of the peptide YY and increased risk of type 2 diabetes.	rs1058046	600781	13439	2	2005		6000 participants										
133564	Y	obesity	METABOLIC	MET	Obesity|Obesity, Morbid	17	17q21.1	PYY	39385632	39437363		Ma, L.  et al. 2005	15855352				Peptide YY	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004160.3	Pima Indian	Arizona	CDC GDPinfo	5697	Hs.169249			Diabetes. 2005 May;54(5):1598-602	Variations in peptide YY and Y2 receptor genes are associated with severe obesity in Pima Indian men.		600781	19211	2	2005	Our data suggest that the PYY-Y2R pathway may influence body weight through a sex-specific mechanism, but this finding requires confirmation in other populations.	Control:127 nondiabetic, nonobese subjects;Case:362 extemely obese Pima Indians										
133558		tetrahydrobiopterin (BH4) deficiency	METABOLIC	MET	Phenylketonurias	11	11q22.3-q23.3	PTS	111602308	111609903		Chien, Y. = H et al. 2001	11916314				6-pyruvoyltetrahydropterin synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000317.1	Taiwanese	Taiwan	CDC GDPinfo	5805	Hs.503860			Journal of inherited metabolic disease. 2001 Dec;24(8):815-23	Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.		261640	19207	2	2001	We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.	Cohort 1337490 newborns China 										
133559		ALS/amyotrophic lateral sclerosis; progressive muscular atrophy	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Motor Neuron Disease|Muscular Atrophy, Spinal	19	19q13.2	PVR	49839065	49858690		Saunderson, R.  et al. 2004	15076773				Poliovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006505.2			CDC GDPinfo	5817	Hs.171844			Neuroreport. 2004 Feb;15(2):383-6	A polymorphism in the poliovirus receptor gene differs in motor neuron disease.		173850	13438	2	2004	Differences in the poliovirus receptor gene may result in slowly progressive viral cytopathic effects that lead to lower motor neuron forms of motor neuron disease.	Case:110/30 amyotrophic lateral sclerosis (n=110) and progressive muscular atrophy (n=30) cases;Control:280 normal controls										
133560		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2-q13.4	PVRL2	50041232	50084325		Freitas, E. M.  et al. 2002	11984219				Poliovirus receptor-related 2 (herpesvirus entry mediator B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR600069			CDC GDPinfo	5819	Hs.326371			Journal of cardiovascular risk. 2002 Feb;9(1):59-65	The poliovirus receptor related 2 (PRR2) and apolipoprotein E genes and coronary heart disease.		600798	23320	2	2002	 The relationship between the PRR2 Sau96I (A/G) polymorphism and early onset coronary artery disease may be due to linkage disequilibrium with the APOE gene and underrepresentation, or a protective effect, of the epsilon2 allele. Alternatively, since A allele homozygosity is particularly overrepresented, the relationship could be more direct, perhaps through a viral association.	Control:624 control subjects, aged 30-50 years, randomly selected from the community and without a history of CHD;Case:640 consecutive Caucasian patients < 50 years with angiographically documented coronary obstructive disease and/or with unequivocal myocardial:infarction										
133554		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q35-q36.1	PTPRN	219862588	219882387		Nishino M 2004	11334676				Protein tyrosine phosphatase, receptor type, N	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002846.2	Japanese	Japan	Y Wang	5798	Hs.89655			Human immunology. 2001 May;62(5):518-22	Polymorphism in gene for islet autoantigen, IA-2, and type 1 diabetes in Japanese subjects		601773	5240	1	2004	There was no significant difference in allele frequency of the IA-2 gene polymorphism between patients with and without autoantibody to IA-2. In conclusion, IA-2 gene polymorphism is not associated with either susceptibility to, or heterogeneity in type 1 diabetes in Japanese subjects.	Cohort 276 type 1 diabetes subjects Japan										
133556		autism	PSYCH	PSY	Autistic Disorder	7	7q31.3	PTPRZ1	121300394	121489326		Marui, T.  et al. 2005	15998549				Protein tyrosine phosphatase, receptor-type, Z polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002851.2	Japanese		CDC GDPinfo	5803	Hs.489824			Neuroscience research. 2005 Sep;53(1):91-4	No association of FOXP2 and PTPRZ1 on 7q31 with autism from the Japanese population.		176891	23318	2	2005												
133557	Y	tetrahydrobiopterin deficiency	OTHER	OTH	Phenylketonurias|XYY Karyotype	11	11q22.3-q23.3	PTS	111602308	111609903		Blau N et al. 2000	10874306				6-pyruvoyltetrahydropterin synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM928025			KGB	5805	Hs.503860			Human mutation. 2000 ;16(1):54-60	Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.		261640	5241	1	2000												
133551		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	11	11p11.2	PTPRJ	47958688	48146246		Powell, N.  et al. 2004	15384144				Protein tyrosine phosphatase, receptor type, J	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002843.2			CDC GDPinfo	5795	Hs.318547			Rapid communications in mass spectrometry. 2004 ;18(19):2249-54	Single nucleotide polymorphism analysis in the human phosphatase PTPrj gene using matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry.		600925	13436	2	2004	The results obtained were in perfect agreement with those generated via restriction fragment length polymorphism analysis. No significant association was noted between possession of either allelic variant and a disease state, but the technique was validated as simple, flexible and appropriate for application in this context. Furthermore, it was highly cost-effective and required minimal optimisation, rendering it ideal for this type of pilot study.	Control normal volunteers;Case thyroid cancer patients										
133552	Y	thyroid cancer	CANCER	CAN	Adenoma|Carcinoma|Thyroid Neoplasms|Cell Transformation, Neoplastic	11	11p11.2	PTPRJ	47958688	48146246		Iuliano, R.  et al. 2004	15378013				Protein tyrosine phosphatase, receptor type, J	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002843.2			CDC GDPinfo	5795	Hs.318547			Oncogene. 2004 Nov;23(52):8432-8	The tyrosine phosphatase PTPRJ/DEP-1 genotype affects thyroid carcinogenesis.		600925	19205	2	2004	These results indicate that the genotypic profile of PTPRJ affects susceptibility to thyroid carcinomas, and that allelic loss of this gene is involved in thyroid carcinogenesis.	Control:54 healthy controls;Case:88 patients with thryoid tumors										
133553		breast cancer	CANCER	CAN	Breast Neoplasms|Colonic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	11	11p11.2	PTPRJ	47958688	48146246		Lesueur, F.  et al. 2005	16000320				Protein tyrosine phosphatase, receptor type, J	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002843.2			CDC GDPinfo	5795	Hs.318547			Human molecular genetics. 2005 Aug;14(16):2349-56	Allelic association of the human homologue of the mouse modifier Ptprj with breast cancer.		600925	19206	2	2005												
133548		kidney transplant complications	IMMUNE	IMM		1	1q31-q32	PTPRC	196874759	196993168			16378074				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		151460	27188	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
133549		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Miterski, B.  et al. 2004	15018649				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838		Germany	CDC GDPinfo	5788	Hs.192039			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		151460	27604	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
133550	Y	triglycerides; insulin; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	1	1p34	PTPRF	43769133	43861930		Miscio, G.  et al. 2004	15150650			promoter	Protein tyrosine phosphatase, receptor type, F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002840.3			CDC GDPinfo	5792	Hs.272062			Journal of molecular medicine (Berlin, Germany). 2004 Jul;82(7):459-66	The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance.		179590	19204	2	2004	Although the biological relevance of this variant has yet to be determined, this finding underlines the potential importance of the LAR gene in dysregulation of insulin sensitivity and related disorders.	Cohort 307 individuals East Sicily Cohort 589 non-diabetic unrelated individuals Gargano region (central east coast of Italy) 										
133545		hepatitis, autoimmune	IMMUNE	IMM		1	1q31-q32	PTPRC	196874759	196993168		Esteghamat, F.  et al. 2005	15963758				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Hepatology research. 2005	C77G mutation in protein tyrosine phosphatase CD45 gene and autoimmune hepatitis.		151460	19201	2	2005	: Our results do not confirm the genetic link between C77G mutation and autoimmune hepatitis in Iranian population.											
133546	N	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	1	1q31-q32	PTPRC	196874759	196993168			16360841				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Human immunology. 2005 Sep;66(9):1008-12	No Association Between Transmembrane Protein-Tyrosine Phosphatase Receptor Type C (CD45) Exon A Point Mutation (77C>G) and Idiopathic Dilated Cardiomyopathy		151460	19202	2	2005												
133547		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168			16393978				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Journal of immunology (Baltimore, Md :  1950). 2006 Jan;176(2):931-8	The 77C->G Mutation in the Human CD45 (PTPRC) Gene Leads to Increased Intensity of TCR Signaling in T Cell Lines from Healthy Individuals and Patients with Multiple Sclerosis		151460	19203	2	2006												
133541		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168		Gomez-Lira, M.  et al. 2003	12864992				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Journal of neuroimmunology. 2003 Jul;140(2-Jan):216-21	CD45 and multiple sclerosis: the exon 4 C77Gpolymorphism (additional studies and meta-analysis) and new markers.		151460	19197	2	2003	None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187Asn) and A138G (Thr191Ala) in exon 6, was significantly associated to MS.	Case:448 patients with multiple sclerosis Northern and Southern Italy;Control:559:controls										
133542	Y	HTLV-1 associated myelopathy/tropical spastic; paraparesis	INFECTION	INF	Paraparesis, Tropical Spastic|HIV Infections|Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168		Sabouri, A. H.  et al. 2003	14641523				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	Japanese	Japan	CDC GDPinfo	5788	Hs.192039			European journal of neurology. 2003 Nov;10(6):737-9	A C77G point mutation in CD45 exon 4, which is associated with the development of multiple sclerosis and increased susceptibility to HIV-1 infection, is undetectable in Japanese population.		151460	19198	2	2003	All 272 subjects showed homozygosity in the CD45 exon 4, suggesting that this mutation is absent or very rare in Japanese population.	Control:108 asymptomatic HTLV-1 carriers;Case:164 HTLV-1 associated myelopathy/tropical spastic paraparesis patients Kagoshima, southern Japan										
133543		hepatitis B; Graves' disease; thyroiditis, Hashimoto's	INFECTION	INF	Hepatitis B|Hepatitis C|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Boxall, S.  et al. 2004	15333587				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Human molecular genetics. 2004 Oct;13(20):2377-84	Disease associations and altered immune function in CD45 138G variant carriers		151460	19199	2	2004	These data suggest that the 138G variant allele strongly influences these diseases by modulation of immune mechanisms and may have achieved its high frequency as a result of a natural selection probably related to pathogen resistance.	Cohort patients with autoimmune Graves' disease, hepatitis B infection and Hashimoto's thyroiditis patients 										
133538	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Ballerini, C.  et al. 2002	12147336				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	Italian	Italy	CDC GDPinfo	5788	Hs.192039			Neuroscience letters. 2002 Aug;328(3):325-7	Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population.		151460	19194	2	2002	This finding suggests a role, in at least a group of patients, for the PTPRC mutation in genetic susceptibility to MS.	Case Italian multiple sclerosis patients;Control healthy matched controls										
133539		hepatitis, autoimmune; hepatitis, chronic	IMMUNE	IMM	Hepatitis, Autoimmune	1	1q31-q32	PTPRC	196874759	196993168		Vogel, A.  et al. 2003	12595907				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Genes and immunity. 2003 Jan;4(1):79-81	77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for agenetic link.		151460	19195	2	2003	Our data identify CD45 as a gene associated with AIH, and further substantiates the hypothesis that CD45 represents a modifier gene of human autoimmunity.	Case:190 autoimmune hepatitis patients;Control:210 healthy blod donors										
133540	Y	lupus erythematosus; sclerosis, systemic	IMMUNE	IMM	Multiple Sclerosis|Lupus Erythematosus, Systemic|Scleroderma, Systemic|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Schwinzer, R.  et al. 2003	12618866				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Genes and immunity. 2003 Mar;4(2):168-9	Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis.		151460	19196	2	2003	The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.	Case patients with systemic sclerosis and systemic lupus:erythematosus										
133535	N	multiple sclerosis	IMMUNE	IMM	Autoimmune Diseases	1	1q31-q32	PTPRC	196874759	196993168		Vorechovsky, I.  et al. 2001	11548742				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			Nature genetics. 2001 Sep;29(1):22-3	Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?		151460	19191	2	2001	Our results show no difference in the frequency of the 77G allele in patients and controls and thus do not support a causative role for the polymorphism in the development of disorders with a strong autoimmune component in etiology.	Case arge numbers of MS patients (# not specified in:abstract);Control over 1, 000 controls (# or specifiecs not specified in abstract)										
133536		diabetes, type 1; Graves' disease	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Wood, J. P.  et al. 2002	11841494				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			CDC GDPinfo	5788	Hs.192039			European journal of immunogenetics. 2002 Feb;29(1):73-4	CD45 exon 4 point mutation does not confer susceptibility to type 1 diabetes mellitus or Graves' disease.		151460	19192	2	2002	This CD45 variant does not therefore confer susceptibility to either IDDM or Graves' disease.	Case patients with Graves' disease;Case patients with type 1 diabetes;Control not specified in abstract										
133537	N	multiple sclerosis	IMMUNE	IMM		1	1q31-q32	PTPRC	196874759	196993168		Bianca, M.  et al. 2002	12028593				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	German		CDC GDPinfo	5788	Hs.192039			BMC medical genetics [electronic resource]. 2002 May;3:3	PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients.		151460	19193	2	2002	 The 77C-->G transition in exon 4 of the PTPRC gene may contribute to MS susceptibility only in very few families, if at all, but it is not relevant for the majority of MS cases, including virtually all German patients.	Control:controls;Case:454 multiple sclerosis patients:Germany										
133532	Y	HTLV-1 associated myelopathy/tropical spastic; paraparesis	OTHER	OTH		1	1q31-q32	PTPRC	196874759	196993168		Tchilian, E. Z.  et al. 2002	11862398				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	African		CDC GDPinfo	5788	Hs.192039			Immunogenetics. 2002 Feb;53(11-Oct):980-3	A CD45 polymorphism associated with abnormal splicing is absent in African populations.		151460	13434	2	2002	We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.	Cohort African and Asian populations from countries with high or low prevalence of HIV infection. 										
133533		Alzheimer's Disease	NEUROLOGICAL	NEUR		1	1q31-q32	PTPRC	196874759	196993168		Gil, J.  et al. 2005	15960938				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	Spanish		CDC GDPinfo	5788	Hs.192039			Med Clin (Barc). 2005 Jun;125(1):1-Oct	[Prevalence of C77G polymorphism in exon 4 of the CD45 gene in the Spanish population]		151460	13435	2	2005	 C77G is present in the Spanish population. Further studies to elucidate its clinical significance are needed.											
133534	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168		Barcellos, L. F.  et al. 2001	11528386				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838		United States	CDC GDPinfo	5788	Hs.192039			Nature genetics. 2001 Sep;29(1):23-4	PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients.		151460	19190	2	2001	Overall, we observed no evidence of genetic association between the PTPRC polymorphism and MS susceptibility or disease course.	United States United States 										
133527	Y	abnormal splicing	OTHER	OTH		1	1q31-q32	PTPRC	196874759	196993168		Tchilian EZ et al. 2002	11862398			splice variant	Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	African		KGB	5788	Hs.192039			Immunogenetics. 2002 Feb;53(11-Oct):980-3	A CD45 polymorphism associated with abnormal splicing is absent in African populations.		151460	5235	1	2002	We further show that populations living in the Pamir mountains of Central Asia have a very high prevalence of the C77G variant.	Cohort African and Asian populations from countries with high or low prevalence of HIV infection.										
133528	N	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168	n	Wood JP et al. 2002	11841494	(CD45, C-->G77, exon 4)			Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			Y Wang	5788	Hs.192039			European journal of immunogenetics. 2002 Feb;29(1):73-4	CD45 exon 4 point mutation does not confer susceptibility to type 1 diabetesmellitus or Graves' disease		151460	5236	1	2002	This CD45 variant does not therefore confer susceptibility to either IDDM or Graves' disease.	Case patients with Graves' disease;Case patients with type 1 diabetes;Control not specified in abstract										
133530	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168	0.000151	Jacobsen M 2000	11101853				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			KGB	5788	Hs.192039			Nature genetics. 2000 Dec;26(4):495-9			151460	5238	1	2000												
133523	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	12	12p13	PTPN6	6926000	6940740	n	Matsushita M et al. 1999	10380707				Protein tyrosine phosphatase, non-receptor type 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002831.4	Japanese		Tsuchiya N	5777	Hs.63489			Immunogenetics. 1999 Jun;49(6):577-9			176883	5227	1	1999		Case:126; Control:138										
133525		SClD	IMMUNE	IMM	Severe Combined Immunodeficiency	1	1q31-q32	PTPRC	196874759	196993168		Kung C 2000	10700239	deletion			Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			KGB	5788	Hs.192039			Nature medicine. 2000 Mar;6(3):343-5			151460	5233	1	2000												
133526	Y	systemic sclerosis	IMMUNE	IMM	Multiple Sclerosis|Lupus Erythematosus, Systemic|Scleroderma, Systemic|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168	P=0.029	Schwinzer R 2003	12618866				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			KEW	5788	Hs.192039			Genes and immunity. 2003 Mar;4(2):168-9	Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis.		151460	5234	1	2003	The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.	Case patients with systemic sclerosis and systemic lupus:erythematosus										
133520		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857			16380915				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Swedish	North America|Sweden	CDC GDPinfo	26191	Hs.535276			American journal of human genetics. 2005 Dec;77(6):1044-60	Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association ofSusceptibility with PTPN22, CTLA4, and PADI4		600716	25478	2	2005												
133521		rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	IMMUNE	IMM	Autoimmune Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Mori, M.  et al. 2005	15883854				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Journal of human genetics. 2005 ;50(5):264-6	Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.		600716	25479	2	2005	Our data suggest that ethnic variations of polymorphisms should be evaluated in detail, and differences should be incorporated into investigations of susceptibility variants for common diseases.	Cohort individuals from Caucasian, African-descent, and Japanese populations. 										
133522		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kurylowicz, A.  et al. 2005	16279844				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Thyroid. 2005 Oct;15(10):1119-24	Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease.		600716	26534	2	2005	 Our results support the notion that CD40 C-1T polymorphism has a modest effect on genetic susceptibility to sporadic GD.											
133517		diabetes, type 1; Addison's disease; Hashimoto's thyroiditis	IMMUNE	IMM	Diabetes Mellitus, Type 1|Addison Disease|Hashimoto Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857			16322396				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	German	Germany	CDC GDPinfo	26191	Hs.535276			European journal of endocrinology. 2005 Dec;153(6):895-9	Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population		600716	19186	2	2005	 The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females.											
133518		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857			16385499				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2006 Jan;54(1):82-9	Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis		600716	23315	2	2005	 Allelic variants encoding the binding pocket for peptide presentation (SE) to T cells and a functional domain of a negative regulator of T cell receptor signaling (PTPN22*620W), respectively, synergize in early RA to break self tolerance toward C1(III), an evolutionarily conserved cartilage determinant that is also frequently targeted in arthritogenic humoral autoimmunity in mice.											
133519		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Skorka, A.  et al. 2005	15943829				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Polish	Poland	CDC GDPinfo	26191	Hs.535276			Clinical endocrinology. 2005 Jun;62(6):679-82	Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population:association and gene dose-dependent correlation with age of onset.		600716	25477	2	2005	 We replicated the association between Graves' disease and PTPN22 'T' reported in British Caucasians. We also found a gene dose-dependent effect of PTPN22 'T' on the age of onset of Graves' disease.											
133514		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Carlton, V. E.  et al. 2005	16175503				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			American journal of human genetics. 2005 Oct;77(4):567-81	PTPN22 genetic variation: evidence for multiplevariants associated with rheumatoid arthritis.		600716	19183	2	2005												
133515		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Martin, M. C.  et al. 2005	16185327				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Spain	CDC GDPinfo	26191	Hs.535276			Tissue antigens. 2005 Oct;66(4):314-7	The functional genetic variation in the PTPN22 gene has a negligible effect on the susceptibility to develop inflammatory bowel disease.		600716	19184	2	2005												
133516	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Autoimmune Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Prescott, N. J.  et al. 2005	16185328				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Great Britain	CDC GDPinfo	26191	Hs.535276			Tissue antigens. 2005 Oct;66(4):318-20	A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population.		600716	19185	2	2005												
133511		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Carlton, V. E.  et al. 2005	16175503				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			American journal of human genetics. 2005 Oct;77(4):567-81	PTPN22 Genetic Variation: Evidence for MultipleVariants Associated with Rheumatoid Arthritis.		600716	19180	2	2005												
133512	N	celiac disease	IMMUNE	IMM	Celiac Disease|Autoimmune Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Rueda, B.  et al. 2005	16112033				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Spain	CDC GDPinfo	26191	Hs.535276			Human immunology. 2005 Jul;66(7):848-52	C1858T functional variant of PTPN22 gene is not associated with celiac disease genetic predisposition.		600716	19181	2	2005												
133513	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Wagenleiter, S. E.  et al. 2005	16164701				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			International journal of immunogenetics. 2005 Oct;32(5):323-4	A case-control study of tyrosine phosphatase (PTPN22) confirms the lack of association with Crohn's disease.		600716	19182	2	2005												
133507	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Zheng, W.  et al. 2005	15734872				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Diabetes. 2005 Mar;54(3):906-8	Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes.		600716	19175	2	2005	Together with previous reports of the association between PTPN22 and type 1 diabetes, as well as rheumatoid arthritis and systemic lupus erythematosus, these results provide compelling evidence that LYP is a critical player in multiple autoimmune disorders.	Control:1,178:controls;Case:396 Caucasian type 1 diabetic patients north central Florida										
133508	N	rheumatoid arthritis; diabetes, type 1; celiac disease	IMMUNE	IMM	Arthritis, Rheumatoid|Celiac Disease|Autoimmune Diseases|Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Zhernakova, A.  et al. 2005	15875058				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Dutch	Netherlands	CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Sep;6(6):459-61	Differential association of the PTPN22 coding variant with autoimmune diseases in a Dutch population		600716	19176	2	2005	PTPN22 is not generally associated with T-cell mediated autoimmune diseases, although it might play a role in the CD patients with early clinical manifestation.	Control:controls;Case type 1 diabetic cases, rheumatoid arthritis cases, and celiac disease cases										
133509	Y	rheumatoid arthritis; juvenile arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857		Hinks, A.  et al. 2005	15934099				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Great Britain	CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is anautoimmunity gene.		600716	19177	2	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133504		Wegener's granulomatosis	OTHER	OTH	Wegener Granulomatosis|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857			16320352	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2005 Dec;52(12):4039-43	The PTPN22 620W allele is a risk factor for Wegener's granulomatosis	rs2476601	600716	13429	2	2005	 The PTPN22 620W allele appears to be involved in the pathogenesis of WG, and ANCA positivity seems to be the hallmark.											
133505		multiple sclerosis; Crohn's disease	IMMUNE	IMM	Crohn Disease|Multiple Sclerosis|Genetic Predisposition to Disease|Inflammation	1	1p13.3-p13.1	PTPN22	114157960	114215857			16391555	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			European journal of human genetics. 2005	Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis	rs2476601	600716	13430	2	2005												
133506	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Smyth, D.  et al. 2004	15504986				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Diabetes. 2004 Nov;53(11):3020-3	Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus.		600716	19174	2	2004	Taken together, these results indicate a more general association of the PTPN22 locus with autoimmune disease.	Case:1,599 type 1 diabetes cases;Control:1,718:controls										
133501		lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome; diabetes, type 1	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome|Autoimmune Diseases|Diabetes Mellitus, Type 1|Lupus Erythematosus, Systemic	1	1p13.3-p13.1	PTPN22	114157960	114215857		Gomez, L. M.  et al. 2005	16163373	C1858T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Colombian	Colombia	CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Oct;6(7):628-31	PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases.	rs2476601	600716	13425	2	2005												
133502		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Dieude, P.  et al. 2005	16277672				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		France	CDC GDPinfo	26191	Hs.535276			Arthritis research & therapy. 2005 ;7(6):R1200-7	Rheumatoid arthritis seropositive for the rheumatoid factor is linked to the protein tyrosine phosphatase nonreceptor 22-620W allele.		600716	13426	2	2005												
133503	N	autoimmune thyroid disease	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Ban, Y.  et al. 2005	16279843	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese		CDC GDPinfo	26191	Hs.535276			Thyroid. 2005 Oct;15(10):1115-8	The Codon 620 Single Nucleotide Polymorphism of the Protein Tyrosine Phosphatase-22 Gene Does not Contribute to Autoimmune Thyroid Disease Susceptibility in the Japanese.	rs2476601	600716	13427	2	2005												
133498		lupus erythematosus; autoimmune thyroid disease	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Wu, H.  et al. 2005	16052563	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2005 Aug;52(8):2396-402	Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allelefrequency in systemic lupus erythematosus patients with autoimmune thyroid disease.	rs2476601	600716	13422	2	2005	 The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our sample of Caucasian individuals from northern America, the UK, or Finland, but it appears to be a risk factor for the concurrent autoimmune diseases of autoimmune thyroid disease and SLE.											
133499	N	giant cell arteritis; polymyalgia rheumatica	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Gonzalez-Gay, M. A.  et al. 2005	16078327				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			The Journal of rheumatology. 2005 Aug;32(8):1510-2	Lack of association of a functional single nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with susceptibility to biopsy-proven giant cell arteritis.		600716	13423	2	2005	 Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA.											
133500		rheumatoid arthritis; juvenile arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Seldin, M. F.  et al. 2005	16107870	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Finnish	Finland	CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Dec;6(8):720-2	Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis.	rs2476601	600716	13424	2	2005												
133495	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Ittah, M.  et al. 2005	15933742	1858C>T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Aug;6(5):457-8	No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome.	rs2476601	600716	13419	2	2005	Thus, 1858 C/T polymorphism of PTPN22 gene is not involved in genetic predisposition to pSS.	Control:172 healthy controls;Case:183 patients with primary Sjogren's syndrome										
133496		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Canton, I.  et al. 2005	16015369				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Oct;6(7):584-7	A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.		600716	13420	2	2005												
133497	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p13.3-p13.1	PTPN22	114157960	114215857		Reddy, M. V.  et al. 2005	16052172	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Sweden	CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Dec;6(8):658-62	The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1.	rs2476601	600716	13421	2	2005												
133492	Y	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Nephritis|Lupus Erythematosus, Systemic	1	1p13.3-p13.1	PTPN22	114157960	114215857		Orozco, G.  et al. 2005	15641066				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Spanish		CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2005 Jan;52(1):219-24	Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus		600716	13416	2	2005	 These results suggest that the PTPN22 1858T allele may confer differential susceptibility to RA and SLE in the Spanish population.	Control:1,036 healthy subjects;Case:826/338 Spanish Caucasian rheumatoid arthritis (n=826) and systemic lupus erythematosus (n=338) patients										
133493	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Lee, A. T.  et al. 2004	15674368	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 Mar;6(2):129-33	The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status.	rs2476601	600716	13417	2	2004	There was no evidence of a genetic association between PTPN22 and HLA susceptibility alleles.	Control:1,401 Caucasian controls;Case:1,413 Caucasian rheumatoid arthritis patients										
133494	Y	lupus erythematosus; rheumatoid arthritis; cholangitis, sclerosing; celiac disease; juvenile arthrit	IMMUNE	IMM	Arthritis|Cholangitis, Sclerosing|Celiac Disease|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Viken, M. K.  et al. 2005	15759012	1858C>T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			Genes and immunity. 2005 May;6(3):271-3	Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.	rs2476601	600716	13418	2	2005	Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.											
133489	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Begovich, A. B.  et al. 2004	15208781				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			American journal of human genetics. 2004 Aug;75(2):330-7	A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis		600716	13413	2	2004	We show that the risk allele, which is present in ~17% of white individuals from the general population and in ~28% of white individuals with RA, disrupts the P1 proline-rich motif that is important for interaction with Csk, potentially altering these proteins' normal function as negative regulators of T-cell activation. The minor allele of this SNP recently was implicated in type 1 diabetes, suggesting that the variant phosphatase may increase overall reactivity of the immune system and may heighten an individual carrier's risk for autoimmune disease.	Control:controls;Case rheumatoid arthritis cases										
133490	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Progression	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kyogoku, C.  et al. 2004	15273934	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		North America	CDC GDPinfo	26191	Hs.535276			American journal of human genetics. 2004 Sep;75(3):504-7	Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.	rs2476601	600716	13414	2	2004	Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.	Control:1,961 Caucasian control individuals;Case:525 independent North American white individuals with systemic lupus erythematosus										
133491		Addison's disease; Graves' disease	IMMUNE	IMM	Graves Disease|Addison Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Velaga, M. R.  et al. 2004	15531553	R620W			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDPinfo	26191	Hs.535276			The Journal of clinical endocrinology and metabolism. 2004 Nov;89(11):5862-5	The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease.	rs2476601	600716	13415	2	2004	These data suggest that this LYP polymorphism is a susceptibility allele for Graves' disease with a major effect, and which is likely to have a role in many other autoimmune conditions.	Control:429:controls;Case:549/104 unrelated probands with Graves' disease (n=549) and unrelated subjects with autoimmune Addison's:disease (n=104)										
133487	N	Multiple Sclerosis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	0.74	Hinks et al, 2005	15934099	R620W (rs2476601, 1858C>T)	Disrupts the P1 domain important for binding to Csk	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	UK Caucasian	Great Britain	Anne Hinks	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene.	rs2476601	600716	6737	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133488	Y	diabetes, type 1	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	1.7e-005	Qu et al., J Med Genet, 2006	15934099	R620W	nonsynonymous	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Canadian Caucasian	Great Britain	Constantin Polychronakos	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study	rs2476601	600716	6738	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133485	N	Psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	0.74	Hinks et al, 2005	15934099	R620W (rs2476601, 1858C>T)	Disrupts the P1 domain important for binding to Csk	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	UK Caucasian	Great Britain	Anne Hinks	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene.	rs2476601	600716	6735	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133486	N	Psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	0.44	Hinks et al, 2005	15934099	R620W (rs2476601, 1858C>T)	Disrupts the P1 domain important for binding to Csk	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	UK Caucasian	Great Britain	Anne Hinks	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene.	rs2476601	600716	6736	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133483	Y	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	1.8 x 10-8	Hinks et al, 2005	15934099	R620W (rs2476601, 1858C>T)	Disrupts the P1 domain important for binding to Csk	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	UK Caucasian	Great Britain	Anne Hinks	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene.	rs2476601	600716	6733	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133484	Y	Juvenile Idiopathic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	0.0005	Hinks et al, 2005	15934099	R620W (rs2476601, 1858C>T)	Disrupts the P1 domain important for binding to Csk	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	UK Caucasian	Great Britain	Anne Hinks	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene.	rs2476601	600716	6734	1	2005	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133481	Y	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	5.6 x 10 -8	Hinks A 2005	15934099	(R620W [rs2476601, 1858CT])	R620W disrupts the P1 proline-rich motif that is important for interaction with Csk, potentially altering these proteins' normal function as negative regulators of T-cell activation.	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	USA	Great Britain	KGB	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.	rs2476601	600716	6731	1	2004	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133482	Y	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	9e-005	Kyogoku C 2004	15934099	(R620W [rs2476601, 1858CT])		coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	North American white individuals	Great Britain	KGB	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	Genetic Association of the R620W Polymorphism of Protein Tyrosine Phosphatase PTPN22 with Human SLE.	rs2476601	600716	6732	1	2004	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133478		systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Photosensitivity Disorders|	4	4q21.3	PTPN13	87734908	87955326		Huang QR 1999	10461479				Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080683.1	Caucasian		Y Wang	5783	Hs.436142			Rheumatology (Oxford, England). 1999 Jul;38(7):645-51	Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients.		600267	5232	1	1999	 The role of the Apo-1/Fas gene promoter MvaI polymorphism in RA and SLE is unclear and further substantiation in larger patient samples is needed.											
133479	Y	diabetes, type 1	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	P < 0.001	Bottini N 2004	15934099	1858T : Arg620Trp	only LYP with Arg620 (allele 1858C) forms a complex with the Csk kinase, whereas LYP with Trp620 (allele 1858T) does not.	coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Great Britain	KGB	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes	rs2476601	600716	6729	1	2004	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133474		Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Ferreira, L. V.  et al. 2005	15956085				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5156-60	PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.		176876	19172	2	2005	 Our findings suggest that the presence of PTPN11 mutations in patients with NS indicates a reduced growth response to long-term hGH treatment.		growth hormone									
133475		neurofibromatosis1; Noonan syndrome	CANCER	CAN	Neurofibromatosis 1|Noonan Syndrome	12	12q24	PTPN11	111340918	111432100			16380919				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			American journal of human genetics. 2005 Dec;77(6):1092-101	NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome		176876	23314	2	2005												
133477		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	4	4q21.3	PTPN13	87734908	87955326		Huang QR 2000	10840834	-1377			Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080683.1	Caucasian		Y Wang	5783	Hs.436142			Pathology. 2000 May;32(2):126-30	Investigation of the -1377 polymorphism on the Apo-1/Fas promoter in systemic lupus erythematosus patients using allele-specific amplification.		600267	5231	1	2000												
133471		Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Jongmans, M.  et al. 2004	15539800				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			Hormone research. 2004 ;62 Suppl 3:56-9	Genetics and variation in phenotype in Noonan syndrome.		176876	19169	2	2004	Mutations were found in 68 patients (45%), the most common being A922G in exon 8. In exon 4 a mutation was found that encoded the C-SH2 domain of the PTPN11 gene in two unique patients who shared some uncommon features. A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.	Cohort 150 patients with Noonan syndrome Nijmegen 										
133472	Y	leukemia; Noonan syndrome	CANCER	CAN	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Jongmans, M.  et al. 2005	15723289				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			American journal of medical genetics Part A. 2005 Apr;134(2):165-70	Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.		176876	19170	2	2005	This confirms previous findings indicating that individuals with NS with specific mutations in PTPN11 are at risk of developing JMML.	Cohort 170 Noonan syndrome patients 										
133473	Y	leukemia; Noonan syndrome	CANCER	CAN	Leukemia, Myelomonocytic, Chronic|Noonan Syndrome|Myeloproliferative Disorders	12	12q24	PTPN11	111340918	111432100		Kratz, C. P.  et al. 2005	15928039				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			Blood. 2005 Sep;106(6):2183-5	The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.		176876	19171	2	2005	These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS/MPD and NS. This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML.	Cohort 77 newly reported patients with nonsyndromic juvenile myelomonocytic leukemia (n=69) or Noonan syndrome/myeloproliferative disorders (n=8) 										
133468	Y	Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Tartaglia, M.  et al. 2002	11992261				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			American journal of human genetics. 2002 Jun;70(6):1555-63	PTPN11 mutations in Noonan syndrome: molecularspectrum, genotype-phenotype correlation, and phenotypic heterogeneity.		176876	19166	2	2002	Genotype-phenotype analysis revealed that pulmonic stenosis was more prevalent among the group of subjects with NS who had PTPN11 mutations than it was in the group without them (70.6% vs. 46.2%; P<.01), whereas hypertrophic cardiomyopathy was less prevalent among those with PTPN11 mutations (5.9% vs. 26.2%; P<.005). The prevalence of other congenital heart malformations, short stature, pectus deformity, cryptorchidism, and developmental delay did not differ between the two groups. A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene.	Cohort a large, well-characterized cohort with Noonan syndrome 										
133469	Y	Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Zenker, M.  et al. 2004	15001945				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			The Journal of pediatrics. 2004 Mar;144(3):368-74	Genotype-phenotype correlations in Noonan syndrome.		176876	19167	2	2004	 The phenotype of NS due to PTPN11 mutations is clinically unambiguous in the majority of patients and represents a highly penetrant trait. Individuals with the clinical diagnosis of NS but without a PTPN11 mutation presumably represent a heterogeneous group in which patients with cardiomyopathy appear to constitute an interesting subgroup for future research.	Cohort 57 unrelated patients with the clinical diagnosis of Noonan syndrome 										
133470	Y	Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome|Cardiovascular Diseases|Pulmonary Valve Stenosis|Hematologic Diseases	12	12q24	PTPN11	111340918	111432100		Yoshida, R.  et al. 2004	15240615				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDPinfo	5781	Hs.506852			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3359-64	Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.		176876	19168	2	2004	The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. Furthermore, assessment of clinical features, in conjunction with data reported previously, implies that the type of cardiovascular lesions and the occurrence of hematological abnormalities are different in mutation-positive and mutation-negative patients, whereas the remaining findings are similar in the two groups of patients.	Cohort 45 patients with Noonan syndrome 										
133465		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Speirs, H. J.  et al. 2004	15097232				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			Journal of hypertension. 2004 May;22(5):931-6	Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension.		176885	25476	2	2004	 Genetic variation in GRK4gamma was associated with HT in the subjects studied.	Case:168 unrelated, Caucasian essential hypertensive (HT):patients;Control:312 normotensive controls										
133466	Y	Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Zenker M 2004	15001945				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			KGB	5781	Hs.506852			The Journal of pediatrics. 2004 Mar;144(3):368-74	Genotype-phenotype correlations in Noonan syndrome.		176876	5229	1	2004	 The phenotype of NS due to PTPN11 mutations is clinically unambiguous in the majority of patients and represents a highly penetrant trait. Individuals with the clinical diagnosis of NS but without a PTPN11 mutation presumably represent a heterogeneous group in which patients with cardiomyopathy appear to constitute an interesting subgroup for future research.	Cohort 57 unrelated patients with the clinical diagnosis of Noonan syndrome										
133467	Y	stomach cancer; stomach atrophy	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Atrophy	12	12q24	PTPN11	111340918	111432100		Goto, Y.  et al. 2005	16032704				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3	Japanese	Japan	CDC GDPinfo	5781	Hs.506852			International journal of cancer. Journal international du cancer. 2006 Jan;118(1):203-8	Association between serum pepsinogens and polymorphismof PTPN11 encoding SHP-2 among Helicobacter pylori seropositive Japanese.		176876	13412	2	2005			hay dust									
133462	Y	glucose tolerance; insulin; body fat	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	20	20q13.1-q13.2	PTPN1	48560297	48634493		Ukkola, O.  et al. 2005	15919835				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			Obesity research. 2005 May;13(5):829-34	Protein tyrosine phosphatase 1B variant associated with fat distribution and insulin metabolism.		176885	19164	2	2005												
133463		insulin; body fat; metabolic syndrome	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Spencer-Jones, N. J.  et al. 2005	16249458				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			Diabetes. 2005 Nov;54(11):3296-304	Protein Tyrosine Phosphatase-1B Gene PTPN1:Selection of Tagging Single Nucleotide Polymorphisms and Association With Body Fat, Insulin Sensitivity, and the Metabolic Syndrome in a Normal Female Population.		176885	19165	2	2005												
133464		body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1	METABOLIC	MET	Cerebrovascular Disorders|Albuminuria|Coronary Disease|Hypertension|Peripheral Vascular Diseases|Diabetes Mellitus, Type 2	20	20q13.1-q13.2	PTPN1	48560297	48634493		Santaniemi, M.  et al. 2004	15189365				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			Journal of internal medicine. 2004 Jul;256(1):48-55	Tyrosine phosphatase 1B and leptin receptor genes and their interaction in type 2 diabetes.		176885	23313	2	2004	 We conclude that the PTP1B IVS6 + G82A polymorphism was associated with BMI, albuminuria, GHBA1 and hypertension in type 2 diabetic patients. The 981T/T-genotype of the Pro303Pro- polymorphism might have some protective role against the development of type 2 diabetes. The interaction effects between the PTP1B IVS6 + A82A and LepR Arg223Arg genotypes influenced BMI, explaining 3% of its variation. A synergistic effect of PTP1B and LepR variants on the leptin signalling may be involved.	Case:257 Finnish patients with type 2 diabetes;Control:285 nondiabetic subjects										
133459	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1-q13.2	PTPN1	48560297	48634493		Echwald, S. M.  et al. 2002	11756316				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Danish		CDC GDPinfo	5770	Hs.417549			Diabetes. 2002 Jan;51(1):6-Jan	A P387L variant in protein tyrosine phosphatase-1B (PTP-1B) is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro.		176885	19160	2	2002	In summary, a rare P387L variant of the PTP-1B gene is associated with a 3.7 (CI 1.26-10.93, P = 0.02) genotype relative risk of type 2 diabetes in the examined population of Danish Caucasian subjects and results in impaired in vitro serine phosphorylation of the PTP-1B peptide.	Case:527 Danish Caucasian type 2 diabetic subjects;Control:542 glucose-tolerant control subjects										
133460	N	diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	20	20q13.1-q13.2	PTPN1	48560297	48634493		Gouni-Berthold, I.  et al. 2005	15715684				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Caucasian	Germany	CDC GDPinfo	5770	Hs.417549			Journal of internal medicine. 2005 Mar;257(3):272-80	The Pro387Leu variant of protein tyrosine phosphatase-1B is not associated with diabetes mellitus type 2 in a German population.		176885	19162	2	2005	 In conclusion, the present data suggest that in a German Caucasian population the Pro387Leu polymorphism of the PTP-1B gene is not associated with DM-2 but may play a role in other metabolic phenotypes.	Case:402 German Caucasian subjects with type 2 diabetes;Control:434 normoglycemic age- and sex-matched controls										
133461		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Florez, J. C.  et al. 2005	15919813				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			Diabetes. 2005 Jun;54(6):1884-91	Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people.		176885	19163	2	2005												
133456	Y	obesity	METABOLIC	MET	Obesity, Morbid	20	20q13.1-q13.2	PTPN1	48560297	48634493		Kipfer-Coudreau, S.  et al. 2004	15235769				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	French	France	CDC GDPinfo	5770	Hs.417549			Diabetologia. 2004 Jul;47(7):1278-84	Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects.		176885	13409	2	2004	Our results support the hypothesis that the PTP 1B gene contributes to the polygenic basis of obesity. PTP 1B SNPs may interact with environmental factors to induce more severe phenotypes, e.g. atherogenic dyslipidaemia, in morbidly obese subjects.	Control:427 non-obese French Caucasians;Case:711 unrelated morbidly obese French Caucasians										
133457	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1-q13.2	PTPN1	48560297	48634493		Bento, J. L.  et al. 2004	15504984				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Caucasian		CDC GDPinfo	5770	Hs.417549			Diabetes. 2004 Nov;53(11):3007-12	Association of Protein Tyrosine Phosphatase 1B Gene Polymorphisms With Type 2 Diabetes		176885	13410	2	2004	These results suggest that PTPN1 is a significant contributor to type 2 diabetes susceptibility in the Caucasian population. This risk is likely due to noncoding polymorphisms.	Case Caucasian subjects with type 2 diabetes from two independently ascertained collections;Control controls from the independently ascertained collections of cases										
133458		glucose tolerance; insulin	METABOLIC	MET	Insulin Resistance	20	20q13.1-q13.2	PTPN1	48560297	48634493		Palmer, N. D.  et al. 2004	15504985				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Hispanic	United States	CDC GDPinfo	5770	Hs.417549			Diabetes. 2004 Nov;53(11):3013-9	Association of Protein Tyrosine Phosphatase 1B Gene Polymorphisms With Measures of Glucose Homeostasis in Hispanic Americans: The Insulin ResistanceAtherosclerosis Study (IRAS) Family Study		176885	13411	2	2004	This comprehensive genetic analysis of PTPN1 reveals significant association with metabolic traits consistent with the proposed in vivo role for the PTP-1B protein.	Cohort 811 Hispanic subjects from the Insulin Resistance Atherosclerosis Study Family Study 										
133453	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1-q13.2	PTPN1	48560297	48634493		Echwald SM et al. 2002	11756316				protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			KGB	5770	Hs.417549			Diabetes. 2002 Jan;51(1):6-Jan	A P387L variant in protein tyrosine phosphatase-1B (PTP-1B) is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro.		176885	5225	1	2002												
133454	Y	diabetes or impaired glucose tolerance	METABOLIC	MET	Diabetes Mellitus|Glucose Intolerance	20	20q13.1-q13.2	PTPN1	48560297	48634493		Mok A et al. 2002	11836311				protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			KGB	5770	Hs.417549			The Journal of clinical endocrinology and metabolism. 2002 Feb;87(2):724-7	A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree.		176885	5226	1	2002												
133455	Y	diabetes, type 2; glucose tolerance	METABOLIC	MET	Diabetes Mellitus|Glucose Intolerance	20	20q13.1-q13.2	PTPN1	48560297	48634493		Mok, A.  et al. 2002	11836311				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2			CDC GDPinfo	5770	Hs.417549			The Journal of clinical endocrinology and metabolism. 2002 Feb;87(2):724-7	A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree.		176885	13407	2	2002	These very preliminary findings suggest that genomic variation in PTP-1B is associated with a reduced risk of diabetes and are consistent with the idea that this protein is important in metabolism.	Cohort 653 individuals of Oji-Cree heritage 										
133449		bone density; height; PTH; pyridinoline, urinary	METABOLIC	MET		3	3p22-p21.1	PTHR1	46894239	46920293		Frohlich, L. F.  et al. 2004	15294324				Parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2			CDC GDPinfo	5745	Hs.1019			Molecular and cellular probes. 2004 Oct;18(5):353-7	Haplotype frequencies and linkage disequilibrium analysis of four polymorphisms at the PTH/PTH-related peptide receptor gene locus		168468	13406	2	2004	These findings may thus affect the design and interpretation of genetic studies involving PTHR1.	Cohort Caucasian, African-American and Asian individuals 										
133450	Y	bone density	METABOLIC	MET	Osteoporosis	3	3p22-p21.1	PTHR1	46894239	46920293			16369896				Parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2			CDC GDPinfo	5745	Hs.1019			Journal of bone and mineral metabolism. 2006 ;24(1):36-41	Tests of linkage and association of PTH/PTHrP receptor type 1 gene with bone mineral density and height in Caucasians		168468	19159	2	2006												
133451		osteoporosis	METABOLIC	MET	Osteoporosis	3	3p22-p21.1	PTHR1	46894239	46920293		Liu, P. Y.  et al. 2005	15744035				Parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2			CDC GDPinfo	5745	Hs.1019			Journal of medical genetics. 2005 Mar;42(3):221-7	A survey of haplotype variants at several disease candidate genes: the importance of rare variantsfor complex diseases.		168468	20149	2	2005	 These findings indicate that rare haplotypes/variants are important for disease susceptibility and cannot be ignored in genetics studies of complex diseases. The study has profound implications for association studies and applications of the HapMap project.	Cohort 1,873 Caucasian subjects 										
133446		bone density	METABOLIC	MET	Osteoporosis|Body Weight	11	11p15.3-p15.1	PTH	13470176	13474143		Lei, S. F.  et al. 2005	15917161				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Chinese		CDC GDPinfo	5741	Hs.37045			Maturitas. 2005 Jun;51(2):199-206	Bone mineral density and five prominent candidate genes in Chinese men: associations, interactioneffects and their implications.		168450	27187	2	2005	The results suggest that the AHSG gene is associated with the spine BMD in Chinese men. The present study represents the first effort to simultaneously investigate the effects of single gene locus as well as gene-by-gene interactions of multiple genes on BMD variation in Chinese men.	Cohort 258 unrelated healthy Chinese men aged 50-80 years 										
133447	Y	malignancy	CANCER	CAN	Neoplasms|Lung Neoplasms|Hypercalcemia	3	3p22-p21.1	PTHR1	46894239	46920293		Wada C et al. 1990	2348564				parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2			KGB	5745	Hs.1019	hypercalcemia		Rinsho byori The Japanese journal of clinical pathology. 1990 Mar;38(3):288-93	A parathyroid hormone related protein (PTHrP) implicated in hypercalcemia associated with malignancy: research of the PTHrP for novel hormonal tumor marker		168468	5223	1	1990												
133448	Y	bone density; height; PTH; pyridinoline, urinary	METABOLIC	MET	Bone Resorption	3	3p22-p21.1	PTHR1	46894239	46920293		Minagawa, M.  et al. 2002	11932319	AAAG repeat		promoter	Parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2	Japanese	Japan	CDC GDPinfo	5745	Hs.1019			The Journal of clinical endocrinology and metabolism. 2002 Apr;87(4):1791-6	Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity.		168468	13405	2	2002	In conclusion, the P3 promoter (AAAG)n polymorphism is frequent in both Japanese and Caucasians and has potential as a linkage marker for the PTHR1 locus. In addition, it may influence the expression of the receptor in target tissues and have functional consequences on the developing skeleton.	Cohort 214 unrelated Japanese Cohort 85 young (18-20 yr) female Japanese 										
133442	Y	bone density	METABOLIC	MET		11	11p15.3-p15.1	PTH	13470176	13474143		Katsumata, K.  et al. 2002	11984699				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Japanese		CDC GDPinfo	5741	Hs.37045			Journal of bone and mineral metabolism. 2002 ;20(3):164-9	Association of gene polymorphisms and bone density in Japanese girls.		168450	26530	2	2002	These results suggest that the Fok I polymorphism of the VDR gene and the Dra II polymorphism of the PTH gene are risk factors for low bone density in Japanese girls.	Cohort 125 healthy Japanese girls (age, 13.4 +/- 0.89 years; range, 12-15 years) 										
133443		bone density	METABOLIC	MET	Osteoporosis	11	11p15.3-p15.1	PTH	13470176	13474143		Dvornyk, V.  et al. 2003	12914574				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Chinese		CDC GDPinfo	5741	Hs.37045			Annals of human genetics. 2003 May;67(Pt 3):216-27	Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for EthnicDifference of Bone Mass		168450	26531	2	2003	If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.	Cohort 1,131 randomly selected individuals from Caucasian and Chinese populations 										
133444		bone density	METABOLIC	MET	Osteoporosis	11	11p15.3-p15.1	PTH	13470176	13474143		Dvornyk, V.  et al. 2005	16117875				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Chinese, Caucasian		CDC GDPinfo	5741	Hs.37045			Chinese medical journal. 2005 Aug;118(15):1235-44	Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bonemass.		168450	26532	2	2005	 The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.											
133438		cardiovascular mortality	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperparathyroidism, Secondary	11	11p15.3-p15.1	PTH	13470176	13474143		Tsujimoto, Y.  et al. 2005	16272640				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			Clinical calcium. 2005 Sep;15 Suppl 1:106-9; discussion 109	[Effects of parathyroid hormone gene polymorphism on cardiovascular mortality]		168450	13403	2	2005												
133439		bone density	METABOLIC	MET		11	11p15.3-p15.1	PTH	13470176	13474143		Li, D.  et al. 2003	15639837				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			Yi chuan. 2003 Mar;25(2):133-6	[Association Study of RFLP of Parathyroid Hormone Gene and Bone Mineral Density in Postmenopausal Women.]		168450	19156	2	2003	This result indicated that B allele might have some protective effects to bone mass loss.	Cohort 185 healthy unrelated postmenopausal women 										
133440		bone density	METABOLIC	MET		11	11p15.3-p15.1	PTH	13470176	13474143		Deng, H. W.  et al. 2002	11918225				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			Journal of bone and mineral research. 2002 Apr;17(4):678-86	Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density.		168450	23312	2	2002	This is the first study in the broad field of bone genetics that tests candidate genes as QTLs for BMD by testing simultaneously for association alone, for linkage alone, and for association and linkage (via the TDT).	Cohort 630 subjects from 53 human pedigrees 										
133441		spondylosis, lumbar	UNKNOWN	UNK	Spinal Osteophytosis|Genetic Predisposition to Disease	11	11p15.3-p15.1	PTH	13470176	13474143			16362385				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			European spine journal. 2005	Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women		168450	25475	2	2005	ER and VDR genes may contribute to lumbar spondylosis in a distinct manner: estrogen sensitivity influences the severity in the early phase after menopause while vitamin D plays an important role at older ages when the contribution of estrogen loss is weaker.											
133434	N	osteoporosis	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	11	11p15.3-p15.1	PTH	13470176	13474143	n	Zhou XG et al., 2003	12893275	BstBI RFLP at the position +3244 (G to A substitution)	no	other	Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Chinese	China	Yaozhong Liu	5741	Hs.37045	bone mineral density, bone mineral content		Biochemical and biophysical research communications. 2003 Aug;307(3):666-71	Parathyroid hormone gene with bone phenotypes in Chinese.		168450	5216	1	2003												
133435	Y	adult height urinary pyridinoline excretion	METABOLIC	MET	Bone Resorption	11	11p15.3-p15.1	PTH	13470176	13474143		Minagawa M et al. 2002	11932319			promoter	Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2		Japan	KGB	5741	Hs.37045			The Journal of clinical endocrinology and metabolism. 2002 Apr;87(4):1791-6	Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height urinary pyridinoline excretion and promoter activity.		168450	5218	1	2002												
133436	Y	hyperparathyroidism	METABOLIC	MET	Kidney Failure, Chronic|Hyperparathyroidism, Secondary	11	11p15.3-p15.1	PTH	13470176	13474143		Gohda, T.  et al. 2002	12046039				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			American journal of kidney diseases. 2002 Jun;39(6):1255-60	Parathyroid hormone gene polymorphism and secondary hyperparathyroidism in hemodialysis patients.		168450	13400	2	2002	We conclude that  PTH genotypes may influence secondary HPT in HD patients.	Control:80 healthy controls;Case:86 hyperparathyroidism patients not treated with vitamin D										
133437	N	bone density	METABOLIC	MET		11	11p15.3-p15.1	PTH	13470176	13474143		Li, M.  et al. 2001	12905817				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDPinfo	5741	Hs.37045			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2001 Feb;23(1):45-8	[Polymorphism of parathyroid hormone gene and its association with bone mineral density of Han nationality women in Beijing area]		168450	13402	2	2001	 PTH gene polymorphisms were not associated with BMD in Beijing women.	Cohort 270 female subjects of Han nationality Beijing, China 										
133431		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25.2-q25.3	PTGS2	184907591	184916179		Wei, J.  et al. 2005	16181776				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):441-5	A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia.		600262	27186	2	2005												
133432		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Iwai, N.  et al. 2004	15167446				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Japanese	Japan	CDC GDPinfo	5743	Hs.196384			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		600262	28507	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
133433	Y	primary hyperparathyroidism	METABOLIC	MET	Hyperparathyroidism	11	11p15.3-p15.1	PTH	13470176	13474143		Kanzawa M et al. 2000	11014383				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			KGB	5741	Hs.37045	bone mass reduction		Horm Metab Res. 2000 Sep;32(9):355-8	Association between parathyroid hormone (PTH)/PTH-related peptide receptor gene polymorphism and the extent of bone mass reduction in primary hyperparathyroidism.		168450	5215	1	2000												
133428		brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Asthma|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Schwartzbaum, J.  et al. 2005	16024651				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Cancer research. 2005 Jul;65(14):6459-65	Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.		600262	26528	2	2005												
133429		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Campa, D.  et al. 2003	14604894				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Carcinogenesis. 2004 Feb;25(2):229-35	Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer.		600262	26529	2	2003	This is the first study implicating polymorphisms in inflammatory genes to the risk of lung cancer.	Control:214:controls;Case:250 lung cancer patients										
133430	N	asthma	IMMUNE	IMM	Asthma	1	1q25.2-q25.3	PTGS2	184907591	184916179		Choi, J. H.  et al. 2004	14749922				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean	Korea	CDC GDPinfo	5743	Hs.196384			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with ahaplotype of 5-lipoxygenase.		600262	27185	2	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
133425		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Ali, I. U.  et al. 2005	16205694				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			British journal of cancer. 2005 Oct;93(8):953-9	Allellic variants in regulatory regions of cyclooxygenase-2: association with advancedcolorectal adenoma.		600262	19152	2	2005												
133426		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cox, D. G.  et al. 2005	16273614				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			World journal of gastroenterology. 2005 Oct;11(38):6003-8	Haplotype of prostaglandin synthase 2/cyclooxygenase 2 is involved in the susceptibility to inflammatory bowel disease.		600262	19153	2	2005	 Our data suggest that this haplotype of PTGS2 contributes to the susceptibility of IBD.											
133427		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Siezen, C. L.  et al. 2005	15550453				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Netherlands	CDC GDPinfo	5743	Hs.196384			Carcinogenesis. 2005 Feb;26(2):449-57	Colorectal adenoma risk is modified by the interplay between polymorphisms in arachidonic acid pathway genes and fish consumption.		600262	23311	2	2005	These results indicate that SNPs in genes involved in the AA pathway are associated with colorectal adenoma risk. Some of these associations are modified by fish consumption.	Case:384 colorectal cancer cases The Netherlands;Control:403 polyp-free controls	fish									
133422		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Inflammation	1	1q25.2-q25.3	PTGS2	184907591	184916179		Ulrich, C. M.  et al. 2005	15767339			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):616-9	PTGS2 (COX-2) -765G > C promoter variant reduces risk of colorectal adenoma among nonusers of nonsteroidal anti-inflammatory drugs.		600262	19149	2	2005	These data suggest that COX-2 expression or activity may be beneficially suppressed, and risk of colorectal polyps reduced, by aspirin or other NSAIDs in PTGS2 -765GG (wild type) individuals and by the -765 CC variant genotype in nonusers of NSAIDs.	Case:494/186 cases with adenomatous (n = 494) or hyperplastic:polyps (n = 186):Minnesota;Control:584 polyp-free controls	aspirin									
133423		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Zhang, X.  et al. 2005	16083713				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Gastroenterology. 2005 Aug;129(2):565-76	Identification of functional genetic variants in cyclooxygenase-2 and their association with risk of esophageal cancer.		600262	19150	2	2005	 These findings indicate that genetic variants in COX-2 may play a role in mediating susceptibility to esophageal cancer.											
133424		platelet aggregation; thromboxate	HEMATOLOGICAL	HEM	Cardiovascular Diseases	1	1q25.2-q25.3	PTGS2	184907591	184916179		Maree, A. O.  et al. 2005	16150050				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Journal of thrombosis and haemostasis. 2005 Oct;3(10):2340-5	Cyclooxygenase-1 haplotype modulates platelet response to aspirin.		600262	19151	2	2005	 Genetic variability in COX-1 appears to modulate both AA-induced platelet aggregation and thromboxane generation. Heterogeneity in the way patients respond to aspirin may in part reflect variation in COX-1 genotype.		aspirin									
133419		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Lin, H. J.  et al. 2002	12433707				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	African American		CDC GDPinfo	5743	Hs.196384			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1305-15	Prostaglandin H synthase 2 variant (Val511Ala) in African Americans may reduce the risk for colorectal neoplasia		600262	19146	2	2002	Consistency of the results across all three of the studies is potentially compatible with a protective effect of the polymorphism, mimicking aspirin.	Case:161/138 cases of colorectal cancer (n=161 in one study of African Americans, and n=138 in the Multiethnic Cohort Study);Control:219/258 controls (n=219 in one study of African Americans, and n=258 in the Multiethnic Cohort Study)										
133420	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q25.2-q25.3	PTGS2	184907591	184916179		Konheim, Y. L.  et al. 2003	12920574			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Pima Indian	Arizona	CDC GDPinfo	5743	Hs.196384			Human genetics. 2003 Oct;113(5):377-81	Association of a promoter variant in the inducible cyclooxygenase-2 gene (PTGS2) with type 2 diabetes mellitus in Pima Indians.		600262	19147	2	2003	These findings indicate that genetic variants in PTGS2 may play a role in mediating susceptibility to T2DM in Pima Indians and are consistent with the hypothesis that chronic inflammation may contribute to the development of T2DM in some individuals.	Cohort approximately 1,000 Pima Indians 										
133421		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Panguluri, R. C.  et al. 2004	14754878			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Carcinogenesis. 2004 Jun;25(6):961-6	COX-2 gene promoter haplotypes and prostate cancer risk.		600262	19148	2	2004	These data suggest that variation of the COX-2 promoter may influence the risk and development of prostate cancer.	Control age-matched controls;Case:288/264/184 African American (n = 288), Bini Nigerian (n = 264) and European American (n = 184) prostate cancer:cases										
133416		biliary tract cancer; gallstones	CANCER	CAN	Biliary Tract Neoplasms|Gallstones|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179			16361272				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Carcinogenesis. 2005	Prostaglandin-endoperoxide synthase 2 (PTGS2) gene polymorphisms and risk of biliary tract cancer and gallstones: a population-based study in Shanghai,China		600262	13398	2	2005												
133417		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colonic Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Wiesner, G. L.  et al. 2001	11309440				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Journal of the National Cancer Institute. 2001 Apr;93(8):635-9	Testing for Colon Neoplasia Susceptibility Variants at the Human COX2 Locus		600262	19144	2	2001	 This study of concordantly affected sibling pairs thus demonstrates that variations in the COX2 gene are unlikely to be a source of individual susceptibility to colon neoplasia in humans.	Case:74 concordantly affected siblin pairs from 46 sibships with colon neoplasia										
133418		inflammatory disease	IMMUNE	IMM	Coronary Artery Disease|Genetic Predisposition to Disease|Acute-Phase Reaction	1	1q25.2-q25.3	PTGS2	184907591	184916179		Papafili, A.  et al. 2002	12377741			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Arteriosclerosis, thrombosis, and vascular biology. 2002 Oct;22(10):1631-6	Common promoter variant in cyclooxygenase-2 represses gene expression: evidence of role inacute-phase inflammatory response		600262	19145	2	2002	 For several acute and chronic inflammatory diseases, -765G>C may influence the variability of response observed.	Case patients subjected to coronary artery bypass graft:surgery;Control healthyUK bjects										
133413		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Hu, Z.  et al. 2005	15777967				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Chinese	China	CDC GDPinfo	5743	Hs.196384			Lung cancer (Amsterdam, Netherlands). 2005 Apr;48(1):7-Nov	A common polymorphism in the 3'UTR of cyclooxygenase 2/prostaglandin synthase 2 gene and risk of lung cancer in a Chinese population.		600262	13395	2	2005	These findings indicate that the COX-2 T8473C polymorphism may contribute to lung cancer susceptibility in the Chinese population. Further larger molecular epidemiological studies are warranted to confirm these findings.	Case:322 Chinese lung cancer patients;Control:323 age and sex frequency-matched cancer-free controls	smoking (tobacco)									
133414		colorectal cancer; colon polyps	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Colonic Neoplasms|Duodenal Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Brosens, L. A.  et al. 2005	15930344				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Clinical cancer research. 2005 Jun;11(11):4090-6	Increased cyclooxygenase-2 expression in duodenal compared with colonic tissues in familial adenomatous polyposis and relationship to the -765G -> C COX-2 polymorphism.		600262	13396	2	2005	 High COX-2 expression in the normal and adenomatous duodenal mucosa of patients with FAP may explain the poorer response of these neoplasms to chemoprevention with COX-2 inhibitors.	Cohort 274 individuals Cohort 36/22/22/17 FAP patients with colonic adenomas (n=36), FAP patients with duodenal adenomas (n=22), patients with sporadic duodenal adenomas (n=22), and patients with sporadic duodenal adenocarcinoma (n=17) 										
133410		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cox, D. G.  et al. 2004	15173859				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Spain	CDC GDPinfo	5743	Hs.196384			British journal of cancer. 2004 Jul;91(2):339-43	Polymorphisms in prostaglandin synthase 2/cyclooxygenase 2 (PTGS2/COX2) and risk of colorectal cancer.		600262	13392	2	2004	Interactions between PTGS2 genotype and use of nonsteroidal anti-inflammatory drugs and risk of colorectal cancer were also explored.	Control:274 controls recruited from new patients admitted to Bellvitge Hospital,;Case:292 patients with colorectal cancer recruited from new patients admitted to Bellvitge Hospital,:Barcelona, Spain:1996-1998	nonsteroidal anti-inflammatory (NSAID)									
133411	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Shi, J.  et al. 2004	15544595			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Australian		CDC GDPinfo	5743	Hs.196384			Clinical and experimental allergy. 2004 Nov;34(11):1714-8	A functional polymorphism in the promoter region of the cyclooxygenase-2 gene is not associated with asthma and atopy in an Australian population.		600262	13393	2	2004	 Although the -765G>C polymorphism may have lower promoter activity and result in decreased COX-2 expression, it is not associated with asthma, disease severity, AIA or atopy in this Australian population.	Case:322/254/88 Australian Caucasian patients with mild (n=322), moderate (n=254) or severe (n=88) asthma:Australia;Control:512 non-asthmatic controls										
133412	Y	lung cancer; breast cancer; bladder cancer; cervical cancer	CANCER	CAN	Neoplasms|Urinary Bladder Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Kang, S.  et al. 2005	15596291			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Cancer letters. 2005 Jan;217(1):6-Nov	Polymorphism in the nuclear factor kappa-B binding promoter region of cyclooxygenase-2 is associated with an increased risk of bladder cancer.		600262	13394	2	2005	In conclusion, our results suggest that polymorphisms in nucleotide -1186, which is in the NF-kappaB binding promoter region of the COX-2 gene, may be associated with an increased risk of bladder cancer. Further research is needed to investigate the functional implications of the polymorphisms of the COX-2 promoter gene in human cancer.	Case:122 Korean cervical, breast, lung and bladder cancer:patients;Control:95 non-cancer patients										
133407		colorectal cancer	CANCER	CAN		1	1q25.2-q25.3	PTGS2	184907591	184916179		Hamajima, N.  et al. 2001	12718655				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Japanese		CDC GDPinfo	5743	Hs.196384			Asian Pacific journal of cancer prevention. 2001 ;2(1):57-62	Genotype Frequencies of Cyclooxygenease 2 (COX2) Rare Polymorphisms for Japanese with and without Colorectal Cancer.		600262	13389	2	2001	no conclusion stated	Case:148 colorectal cancer patients (74 colon cancer, 73 rectal cancer, and 1 colorectal cancer);Control:241 non-cancer individuals										
133408	Y	myocardial infarct; stroke, atherothrombotic	CARDIOVASCULAR	CARD	Carotid Stenosis|Cerebrovascular Accident|Myocardial Infarction|Arteriosclerosis	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cipollone, F.  et al. 2004	15138244				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			JAMA. 2004 May;291(18):2221-8	A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke.		600262	13390	2	2004	 We found that the -765G-->C polymorphism of the COX-2 gene is associated with a decreased risk of MI and stroke. Detection of this genotype may be useful for predicting genetic risk of MI and stroke.	Case:864 patients with first MI or atherothrombotic ischemic:stroke;Control:864 hospitalized controls										
133409		colorectal cancer	CANCER	CAN	Colonic Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Koh, W. P.  et al. 2004	15150618				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Chinese	Singapore	CDC GDPinfo	5743	Hs.196384			British journal of cancer. 2004 May;90(9):1760-4	Interaction between cyclooxygenase-2 gene polymorphism and dietary n-6 polyunsaturated fatty acids on colon cancer risk: the Singapore ChineseHealth Study.		600262	13391	2	2004	Chinese subjects found a statistically significant association between the cyclooxygenase (COX)-2 -765G>C gene polymorphism and colon cancer risk among high consumers of dietary n-6 polyunsaturated fatty acids	Control:1,177:controls;Case:310 colorectal cancer cases in a nested prospective, population-based cohort:Singapore	diet									
133404	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q25.2-q25.3	PTGS2	184907591	184916179		Konheim YL 2003	12920574			5'promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Arizona	KGB	5743	Hs.196384			Human genetics. 2003 Oct;113(5):377-81	Association of a promoter variant in the inducible cyclooxygenase-2 gene (PTGS2) with type 2 diabetes mellitus in Pima Indians.		600262	5220	1	2003	These findings indicate that genetic variants in PTGS2 may play a role in mediating susceptibility to T2DM in Pima Indians and are consistent with the hypothesis that chronic inflammation may contribute to the development of T2DM in some individuals.	Cohort approximately 1,000 Pima Indians										
133405		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Campa D 2004	14604894				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			KGB	5743	Hs.196384			Carcinogenesis. 2004 Feb;25(2):229-35	Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer.		600262	5221	1	2004	This is the first study implicating polymorphisms in inflammatory genes to the risk of lung cancer.	Control:214:controls;Case:250 lung cancer patients										
133406	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Carotid Stenosis|Cerebrovascular Accident|Myocardial Infarction|Arteriosclerosis	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cipollone F 2004	15138244	765G-->C			Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			KGB	5743	Hs.196384			JAMA. 2004 May;291(18):2221-8	A polymorphism in the cyclooxygenase 2 gene as an inherited protective factor against myocardial infarction and stroke.		600262	5222	1	2004	 We found that the -765G-->C polymorphism of the COX-2 gene is associated with a decreased risk of MI and stroke. Detection of this genotype may be useful for predicting genetic risk of MI and stroke.	Case:864 patients with first MI or atherothrombotic ischemic:stroke;Control:864 hospitalized controls										
133401	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Recurrence	9	9q32-q33.3	PTGS1	124173049	124197802		Hillarp, A.  et al. 2003	15041270				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDPinfo	5742	Hs.201978			Thrombosis research. 2003 ;112(6-May):275-83	Mutations within the cyclooxygenase-1 gene in aspirin non-responders with recurrence of stroke		176805	19143	2	2003	 The results do not support the hypothesis that common variants of the Cox-1 gene results in unblocked Cox-1 molecules in aspirin non-responders.	Control healthy control subjects;Case:68 patients with recurrent ischemic stroke despite taking aspirin										
133402		schizophrenia	PSYCH	PSY	Schizophrenia	9	9q32-q33.3	PTGS1	124173049	124197802		Wei, J.  et al. 2005	16181776				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDPinfo	5742	Hs.201978			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):441-5	A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia.		176805	26527	2	2005												
133403	N	extracolonic manifestations	OTHER	OTH	Adenomatous Polyposis Coli	1	1q25.2-q25.3	PTGS2	184907591	184916179	n	Humar B et al. 2000	10956391				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Switzerland	KGB	5743	Hs.196384			International journal of cancer. Journal international du cancer. 2000 Sep;87(6):812-7	Germline alterations in the cyclooxygenase-2 gene are not associated with the development of extracolonic manifestations in a large swiss familial adenomatous polyposis kindred.		600262	5219	1	2000												
133398	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama, T.  et al. 2003	12924623				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3		Japan	CDC GDPinfo	5740	Hs.302085			Hypertension research. 2003 Jul;26(7):553-7	Haplotype analysis of the prostacyclin synthase gene and essential hypertension		601699	19142	2	2003	To summarize, we successfully identified haplotypes of the PGIS gene, and these haplotypes were not associated with EH.	Case essential hypertension patients;Control normotensive subjects										
133399	Y	colorectal cancer; colon polyps	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Genetic Predisposition to Disease	9	9q32-q33.3	PTGS1	124173049	124197802		Ulrich, C. M.  et al. 2004	15159324				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDPinfo	5742	Hs.201978			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):889-93	Polymorphisms in PTGS1 (=COX-1) and Risk of Colorectal Polyps		176805	13387	2	2004	To our knowledge, this study represents the first investigation of polymorphisms in PTGS1 and risk of colorectal polyps. The L15-L16del variant allele may result in an increased risk of colorectal adenomas, whereas P17L may be relevant to the pharmacogenetics of aspirin. These preliminary findings require confirmation in larger studies of colorectal neoplasia.	Case:521/194 patients with colorectal adenomatous (n = 521) or:hyperplastic (n = 194) polyps;Control:621 polyp-free controls	aspirin nonsteroidal anti-inflammatory (NSAID)									
133400		asthma	IMMUNE	IMM	Asthma	9	9q32-q33.3	PTGS1	124173049	124197802		Shi, J.  et al. 2005	16055872				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDPinfo	5742	Hs.201978			The European respiratory journal. 2005 Aug;26(2):249-56	Cyclooxygenase-1 gene polymorphisms in patients with different asthma phenotypes and atopy.		176805	13388	2	2005												
133395		hypertension	CARDIOVASCULAR	CARD		20	20q13.11-q13.13	PTGIS	47553817	47618114		Chevalier, D.  et al. 2002	12428676				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDPinfo	5740	Hs.302085			Prostaglandins & other lipid mediators. 2002 Sep;70(2-Jan):31-7	Sequence analysis, frequency and ethnic distribution of VNTR polymorphism in the 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1)		601699	13385	2	2002	Differences among the three ethnic panels in the frequency of the VNTR variants were observed. This study represents the first multi-population-based analysis of the frequency and distribution of VNTR polymorphism affecting the CYP8A1 promoter.	Cohort 										
133396	N	pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Embolism|Chronic Disease	20	20q13.11-q13.13	PTGIS	47553817	47618114		Amano, S.  et al. 2004	15182267			promoter	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDPinfo	5740	Hs.302085			Respirology (Carlton, Vic). 2004 Jun;9(2):184-9	Polymorphism of the promoter region of prostacyclin synthase gene in chronic thromboembolic pulmonary hypertension.		601699	13386	2	2004	 Our results suggested that the specific VNTR polymorphism in the 5'-upstream promoter region of the PGIS gene regulated prostacyclin production, but did not seem to be associated with the development of CTEPH in this patient population.	Control:144 control subjects;Case:90 Japanese patients with chronic thromboembolic pulmonary hypertension										
133397	Y	cerebral infarction	CARDIOVASCULAR	CARD	Cerebral Infarction	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama, T.  et al. 2000	11130769			promoter	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDPinfo	5740	Hs.302085			American journal of hypertension. 2000 Dec;13(12):1263-7	Association of 5' upstream promoter region of prostacyclin synthase gene variant with cerebral infarction.		601699	19141	2	2000	This study provides consistent support for the association between CI and the PGIS gene.	Case:111 cerebral infarction patients;Control:152 control subjects										
133392	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama, T.  et al. 2001	11368458			promoter	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDPinfo	5740	Hs.302085			American journal of hypertension. 2001 May;14(5 Pt 1):409-11	Polymorphism of the promoter region of prostacyclin synthase gene is not related to essential hypertension.		601699	13382	2	2001	this VNTR polymorphism in the PGIS gene is not associated with EH.	Case:125 patients with essential hypertension;Control:125 age-matched subjects with normal blood pressure:Cohort:250 urelated subjects:Japanese										
133393	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama, T.  et al. 2002	11924728			promoter	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDPinfo	5740	Hs.302085			Hypertension research. 2002 Jan;25(1):65-8	Association study between a novel single nucleotide polymorphism of the promoter region of the prostacyclin synthase gene and essential hypertension.		601699	13383	2	2002	Thus, this SNP in the PGIS gene is not associated with EH.	Case:200 hypertensive patients;Control:200:controls										
133394	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama, T.  et al. 2002	12040339				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3	Japanese		CDC GDPinfo	5740	Hs.302085			American heart journal. 2002 May;143(5):797-801	Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction.		601699	13384	2	2002	 We conclude that the C1117A polymorphism in exon 8 is associated with risk for MI and may be a genetic marker of MI in Japanese persons.	Control:130 healthy Japanese controls;Case:138 Japanese patients with myocardial infarction										
133388	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama T et al. 2002	12372404			splice variant	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			KGB	5740	Hs.302085			Biochemical and biophysical research communications. 2002 Oct;297(5):1135-9	Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension.		601699	5211	1	2002												
133390	Y	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama T et al. 2002	12040339				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			KGB	5740	Hs.302085			American heart journal. 2002 May;143(5):797-801	Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction.		601699	5213	1	2002	 We conclude that the C1117A polymorphism in exon 8 is associated with risk for MI and may be a genetic marker of MI in Japanese persons.	Control:130 healthy Japanese controls;Case:138 Japanese patients with myocardial infarction										
133391		hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama T et al. 1997	9561119				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			KGB	5740	Hs.302085			Advances in experimental medicine and biology. 1997 ;433:127-30	Organization of the human prostacyclin synthase gene and association analysis of a novel CA repeat in essential hypertension.		601699	5214	1	1997												
133385	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis|Hypertension	9	9q34.2-q34.3	PTGDS	138989366	138996015		Miwa, Y.  et al. 2004	15325247				Prostaglandin D2 synthase 21kDa (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000954.5	Japanese	Japan	CDC GDPinfo	5730	Hs.446429			Biochemical and biophysical research communications. 2004 Sep;322(2):428-33	Identification of gene polymorphism in lipocalin-type prostaglandin D synthase and its association with carotid atherosclerosis in Japanese hypertensive patients.		176803	13381	2	2004	Our results suggested that 4111 A>C polymorphism in the L-PGDS gene contributes to the development of carotid atherosclerosis in Japanese hypertensive patients.	Cohort 782 Japanese hypertensive patients 										
133386		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	9	9q34.2-q34.3	PTGDS	138989366	138996015		Suzuki, A.  et al. 2004	15081423				Prostaglandin D2 synthase 21kDa (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000954.5	Japanese	Japan	CDC GDPinfo	5730	Hs.446429			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		176803	28102	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
133387		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	9	9q34.3	PTGES	131540432	131555165		Iwai, N.  et al. 2004	15167446				Prostaglandin E synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004878.3	Japanese	Japan	CDC GDPinfo	9536	Hs.146688			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		605172	28489	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
133382	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q22.1	PTGDR	51804180	51813192	n	Noguchi E 2002	12002745	T-197C. C-2T			Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2	Japanese		KCB	5729	Hs.306831			Clinical and experimental allergy. 2002 Jan;32(1):93-6			604687	5209	1	2002	 Our results suggest that the IVS2 + 11A/C allele may be involved in the development of asthma in the Japanese population.											
133383	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	14	14q22.1	PTGDR	51804180	51813192		Oguma, T.  et al. 2004	15496624				Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2			CDC GDPinfo	5729	Hs.306831			The New England journal of medicine. 2004 Oct;351(17):1752-63	Role of prostanoid DP receptor variants in susceptibility to asthma		604687	19140	2	2004	 Our functional and genetic findings identify PTGDR as an asthma-susceptibility gene.	Control:175/45 white (n=175) and black (n=45) controls;Case:518/80 white (n=518) and black (n=80) patients with asthma										
133384	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	9	9q34.2-q34.3	PTGDS	138989366	138996015	0.006	Suzuki A 2004	15081423				Prostaglandin D2 synthase 21kDa (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000954.5	Japanese	Japan	KGB	5730	Hs.446429			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		176803	5210	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
133378	Y	smoking behavior; nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Zhang, L.  et al. 2005	16331670				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			American journal of medical genetics Part B, Neuro	Association of the phosphatase and tensin homolog gene (PTEN) with smoking initiation and nicotine dependence		601728	19139	2	2005												
133379	Y	anaplastic astrocytoma; glioblastoma multiforme	CANCER	CAN	Astrocytoma|Glioblastoma|Brain Neoplasms	10	10q23.3	PTEN	89613174	89718512		Smith, J. S.  et al. 2001	11504770				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			Journal of the National Cancer Institute. 2001 Aug	PTEN mutation, EGFR amplification, and outcome in patients with anaplastic astrocytoma and glioblastoma multiforme.		601728	23310	2	2001	 PTEN mutation and EGFR amplification are important prognostic factors in patients with anaplastic astrocytoma and in older patients with glioblastoma multiforme, respectively.	Cohort 174 patients enrolled in Mayo Clinic Cancer Center and North Central Cancer Treatment Group clinical trials for newly diagnosed gliomas 										
133380		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Sadetzki, S.  et al. 2005	15824172				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3		Israel	CDC GDPinfo	5728	Hs.500466			Cancer epidemiology, biomarkers & prevention. 2005	Genotyping of patients with sporadic and radiation-associated meningiomas.		601728	27823	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
133375	Y	brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Disease Progression	10	10q23.3	PTEN	89613174	89718512		Kato, H.  et al. 2004	14642363				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			Journal of clinical neuroscience. 2004 Jan;11(1):3	PTEN gene mutation and high MIB-1 labeling index may contribute to dissemination in patients with glioblastoma.		601728	19136	2	2004	The results indicate that the evaluation of PTEN mutation and MIB-1 LI are useful to predict dissemination and prognosis of glioblastomas.	Cohort 39 consecutive patients with glioblastomas 										
133376	N	endometrial cancer	CANCER	CAN	Hamartoma Syndrome, Multiple|Endometrial Neoplasms|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Black, D.  et al. 2005	15589575				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			Gynecologic oncology. 2005 Jan;96(1):21-4	Evaluation of germline PTEN mutations in endometrial cancer patients.		601728	19137	2	2005	 Although these data do not preclude the possibility of an increased risk of endometrial cancer in association with the Cowden syndrome, they indicate that germline PTEN mutations do not account for a significant proportion of genetic attributable risk for endometrial carcinoma.	Cohort 240 consecutive patients with endometrial cancer 1999 - 2002 										
133377		autism	PSYCH	PSY	Craniofacial Abnormalities|Autistic Disorder	10	10q23.3	PTEN	89613174	89718512		Butler, M. G.  et al. 2005	15805158				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			Journal of medical genetics. 2005 Apr;42(4):318-21	Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.		601728	19138	2	2005	We suggest that PTEN gene testing be considered for patients with autistic behaviour and extreme macrocephaly. The gene findings may impact on recurrence risks as well as medical management for the patient.	Cohort 18 autisit subjects (13 males and five females; ages 3.1-18.4 years) with a head circumference range from 2.5 to 8.0 standard deviations above the mean 										
133372	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q23.3	PTEN	89613174	89718512		Ishihara, H.  et al. 2003	14623110				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	Japanese	Japan	CDC GDPinfo	5728	Hs.500466			FEBS letters. 2003 Nov;554(3):450-4	Association of the polymorphisms in the 5'-untranslated region of PTEN gene with type 2 diabetes in a Japanese population.		601728	13380	2	2003	These findings suggest that the change of C to G at position -9 of the PTEN gene is associated with the insulin resistance of type 2 diabetes due possibly to a potentiated hydrolysis of the PI3-kinase product.	Control non-diabetic control subjects;Case Japanese patients with type 2 diabetes										
133373		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	10	10q23.3	PTEN	89613174	89718512		Hansen, L.  et al. 2001	11270682				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	Danish	Denmark	CDC GDPinfo	5728	Hs.500466			Diabetologia. 2001 Feb;44(2):237-40	Studies of variability in the PTEN gene among Danish caucasian patients with Type II diabetes mellitus		601728	19133	2	2001	Variability in the PTEN is not a common cause of Type II diabetes in the Danish Caucasian population.	Control:224 subjects with normal glucose tolerance in a Danish Caucasian population:Denmark;Case:379 patients with type 2 diabetes in a Danish Caucasian:population:Denmark;Case:62 patients with insulin-resistant type 2 diabetes in a Danish Caucasian population:Denmark										
133374	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q23.3	PTEN	89613174	89718512		Nathanson, K. L.  et al. 2001	11303600			intron	Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDPinfo	5728	Hs.500466			Cancer epidemiology, biomarkers & prevention. 2001	An intronic variant in PTEN is not associated with prostate cancer risk.		601728	19134	2	2001	Our data indicate that the intronic PTEN variant is not involved in the predisposition to develop prostate cancer.	Case:248 incident prostate cancer cases:1994-1999;Control:293 men attending UPHS general medical clinics										
133369		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	10	10q23.3	PTEN	89613174	89718512		Hansen L 2001	11270682				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	Caucasian	Denmark	Y Wang	5728	Hs.500466			Diabetologia. 2001 Feb;44(2):237-40	Studies of variability in the PTEN gene among Danish caucasian patients with Type II diabetes mellitus.		601728	5207	1	2001	Variability in the PTEN is not a common cause of Type II diabetes in the Danish Caucasian population.	Control:224 subjects with normal glucose tolerance in a Danish Caucasian population:Denmark;Case:379 patients with type 2 diabetes in a Danish Caucasian:population:Denmark;Case:62 patients with insulin-resistant type 2 diabetes in a Danish Caucasian popul										
133370		Cowden syndrome	CANCER	CAN	Hamartoma Syndrome, Multiple|Breast Neoplasms	10	10q23.3	PTEN	89613174	89718512		Tsou HC et al. 1997	9345101				phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			KGB	5728	Hs.500466			American journal of human genetics. 1997 Nov;61(5)	The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.		601728	5208	1	1997												
133371		breast cancer	CANCER	CAN	Hamartoma Syndrome, Multiple|Proteus Syndrome	10	10q23.3	PTEN	89613174	89718512		Zhou, X. P.  et al. 2002	11986403	39 bp			Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	African Americans	Japan	CDC GDPinfo	5728	Hs.500466			The Journal of molecular diagnostics. 2002 May;4(2	A 39-bp deletion polymorphism in PTEN in African American individuals: implications for moleculardiagnostic testing.		601728	13379	2	2002	Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN.	Cohort  42 African american controls 										
133366		skin cancer, non-melanoma	CANCER	CAN	Basal Cell Nevus Syndrome	9	9q22.3	PTCH	97246218	97310652		Tanioka, M.  et al. 2004	15565302				Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2	Japanese	Japan	CDC GDPinfo	5727	Hs.494538			Archives of dermatological research. 2005 Jan;296(7):303-8	Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.		601309	19131	2	2004	No phenotype-genotype relationships were found in the Japanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian patients.											
133367	Y	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	9	9q22.3	PTCH	97246218	97310652		Strange, R. C.  et al. 2004	15598212				Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2			CDC GDPinfo	5727	Hs.494538			Annals of human genetics. 2004 Nov;68(Pt 6):536-45	Susceptibility to basal cell carcinoma:associations with PTCH polymorphisms.		601309	19132	2	2004	These data, showing for the first time that PTCH polymorphism mediates susceptibility, are compatible with reports showing that PTCH haploinsufficiency influences development of BCC precursor lesions.	Control:300:controls;Case:659 basal cell carcinoma cases										
133368	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q23.3	PTEN	89613174	89718512		Ishihara H 2003	14623110				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	Japanese	Japan	KGB	5728	Hs.500466			FEBS letters. 2003 Nov;554(3):450-4	Association of the polymorphisms in the 5'-untranslated region of PTEN gene with type 2 diabetes in a Japanese population.		601728	5206	1	2003	These findings suggest that the change of C to G at position -9 of the PTEN gene is associated with the insulin resistance of type 2 diabetes due possibly to a potentiated hydrolysis of the PI3-kinase product.	Control non-diabetic control subjects;Case Japanese patients with type 2 diabetes										
133363	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Disease Susceptibility	9	9q22.3	PTCH	97246218	97310652		Chang-Claude, J.  et al. 2003	12516098	Pro1315Leu (C3944T)			Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2		Germany|Great Britain	CDC GDPinfo	5727	Hs.494538			International journal of cancer. Journal international du cancer. 2003 Mar;103(6):779-83	The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk		601309	13376	2	2003	Our novel observation of a differential effect of OC use on breast cancer risk by PTCH1 1315Leu-carrier status suggests the interesting possibility of the Sonic hedgehog/Patched (SHH/PTCH1) signaling pathway being involved in hormone-induced development of breast carcinoma.	Control:1057 controls matched by age and study region in Germany for German patients;Case:611/1093 German breast cancer patients diagnosed by age 50 years (n=611) and 1093 breast cancer patients from United Kingdom;Case:611/1093 German breast cancer patients diagnosed by age 50 years (n=611) and 1093 breast cancer patients from United Kingdom	oral contraceptive									
133364	Y	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	9	9q22.3	PTCH	97246218	97310652		Strange, R. C.  et al. 2004	15534865				Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2			CDC GDPinfo	5727	Hs.494538			Environmental and molecular mutagenesis. 2004 ;44(5):469-76	PTCH polymorphism is associated with the rate of increase in basal cell carcinoma numbers during follow-up: preliminary data on the influence of anexon 12-exon 23 haplotype.		601309	13377	2	2004	The data show that allelic variation in PTCH contributes to the rate of development of BCC.	Cohort 279 basal cell carcinoma cases 										
133365		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	9	9q22.3	PTCH	97246218	97310652		Asplund, A.  et al. 2005	15888139	Pro1315Leu (C3944T)			Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2			CDC GDPinfo	5727	Hs.494538			The British journal of dermatology. 2005 May;152(5):868-73	PTCH codon 1315 polymorphism and risk for nonmelanoma skin cancer.		601309	13378	2	2005	 Our results indicate an association between the eumelanin-to-phaeomelanin shift and a shift from the Pro/Pro genotype to Leu-containing genotypes. Failure to lose Pro during the shift to phaeomelanin may be associated with an increased population risk for BCC and increased individual risk for multiple BCC. During development of a tumour, the effect of Pro may be magnified by loss of the Leu allele.	Case:170 patients in four different categories of nonmelanoma skin cancer:Sweden;Control:472 blood samples										
133359	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	1	1p35-p34.3	PTAFR	28348448	28392967		Osoegawa, M.  et al. 2005	15748960				Platelet-activating factor receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013879	Japanese	Japan	CDC GDPinfo	5724	Hs.46			Journal of neuroimmunology. 2005 Apr;161(2-Jan):195-8	Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis.		173393	13375	2	2005	These findings suggest that the PAFR gene missense mutation has a relation to the susceptibility for MS.	Case:162 Japanese patients with conventional multiple:sclerosis;Control:245 healthy controls										
133360	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p35-p34.3	PTAFR	28348448	28392967		Ninio, E.  et al. 2004	15115767				Platelet-activating factor receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013879	caucasians of German nationality /inhabitants of the Rhein-Mainz area.	Germany	CDC GDPinfo	5724	Hs.46			Human molecular genetics. 2004 Jul;13(13):1341-51	Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease.		173393	23309	2	2004	Polymorphisms of the PTAFR gene were not related to any phenotype.	Case:1,314 coronary artery disease patients from a prospective:cohort;Control:485 healthy controls										
133361	Y	nevoid basal cell carcinoma syndrome associated	CANCER	CAN	Basal Cell Nevus Syndrome|Meningioma|Meningeal Neoplasms|	9	9q22.3	PTCH	97246218	97310652		Tate G et al. 2003	12604725				Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2	Japanese		KGB	5727	Hs.494538			Japanese journal of clinical oncology. 2003 Jan;33(1):47-50	A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.		601309	5204	1	2003												
133355		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	PSMB8	32916471	32920690		Brown, M. A.  et al. 2002	12118167				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		177046	26524	2	2002	Review article											
133356	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	PSORS1C1	31190601	31215816		Peddle, L.  et al. 2004	15301859				Psoriasis susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014068.1		Newfoundland	CDC GDPinfo	170679	Hs.310958			Human immunology. 2004 Jul;65(7):706-9	Association of SEEK1 polymorphisms in Crohn's disease.			13373	2	2004	The SEEK1polymorphisms +39604, +39709, and +26680 are not associated with CD in the Newfoundland population.	Control:105 ehtnically matched healthy controls;Case:126 Crohn's disease patients:Newfoundland										
133358		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSORS1C1	31190601	31215816		Chang, Y. T.  et al. 2005	16029332				Psoriasis susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014068.1	Chinese		CDC GDPinfo	170679	Hs.310958			The British journal of dermatology. 2005 Jul;153(1):90-6	A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis.			23306	2	2005	 Our results indicate that the PSORS1C1 gene might not play an important role in the causation of chronic plaque psoriasis in Chinese people.											
133352		dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	PSMB8	32916471	32920690		Lee, H. J.  et al. 2001	11737038				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Korean	Korea	CDC GDPinfo	5696	Hs.180062			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		177046	25471	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
133353		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Pyo, C. W.  et al. 2003	12648225				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Korean	Korea	CDC GDPinfo	5696	Hs.180062			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		177046	25472	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
133354		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Thomson, W.  et al. 2002	12223104				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		177046	26523	2	2002	Review article											
133349	Y	interferon response	IMMUNE	IMM	Hepatitis C, Chronic	6	6p21.3	PSMB8	32916471	32920690		Sugimoto, Y.  et al. 2002	12225333				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Journal of viral hepatitis. 2002 Sep;9(5):377-84	A single nucleotide polymorphism of the low molecular mass polypeptide 7 gene influences the interferon response in patients with chronic hepatitis C.		177046	14144	2	2002	These findings suggest that a single nucleotide polymorphism of LMP7 gene is one of the important host factors which independently influence the response to IFN in patients with chronic hepatitis C.	Cohort 175 hepatitis C virus (HCV) patients 										
133350		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Ding, H.  et al. 2001	11793848				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Chinese medical journal. 2001 Dec;114(12):1263-6	Relationship of large multifunctional proteasome 7 gene polymorphism with susceptibility to type 1 diabetes mellitus and DR3 gene.		177046	14427	2	2001	 LMP7-B/B may be the protective genotype, and LMP7-B/A may be the susceptible genotype of DM-1, and this may not be affected by the DR3 gene. Persons with LMP7-B/B may have a decreased risk, and those with LMP7-B/A have an increased risk suffering from DM-1. The LMP7 gene may not be associated with the age of diabetic onset.	Case:71 diabetes mellitus type 1 patients;Control:86 healthy people										
133351		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		McTernan CL  et al. 2000	11051286				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Caucasian	Great Britain	CDC GDPinfo	5696	Hs.180062			Diabetic medicine. 2000 Sep;17(9):661-6	Assessment of the non-HLA-DR-DQ contribution to IDDM1 in British Caucasian families: analysis ofLMP7 polymorphisms.		177046	19125	2	2000	 LMP7 alleles do not contribute to genetic susceptibility to Type 1 diabetes in subjects with high-risk-associated HLA-DR-DQ haplotypes.	Case IDDM1 affected offspring in 142 multiplex families from the British Diabetic Association Warren:Repository.:British;Control Parents of affected offspring										
133346		spondyloarthropathies	IMMUNE	IMM	Arthritis, Reactive|Spondylarthropathies|Spondylitis, Ankylosing	6	6p21.3	PSMB8	32916471	32920690		Vargas-Alarcon, G.  et al. 2004	15603870				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Mexican	Mexico	CDC GDPinfo	5696	Hs.180062			Human immunology. 2004 Dec;65(12):1437-42	Association study of LMP gene polymorphisms in Mexican patients with spondyloarthritis.		177046	13369	2	2004	The data suggest that, besides HLA-B27, LMP2 genotypes are also involved in the genetic susceptibility to develop AS in Mexicans. Furthermore, the age at onset of this disease might also be influenced by genotypes of this gene.	Control:139 ethnically matched healthy individuals;Case:223 Mexican patients with spondyloarthritis (81 undifferentiated SpA, 117 with ankylosing spondylitis [AS], 25 with reactive arthritis)										
133347		hepatitis B	INFECTION	INF		6	6p21.3	PSMB8	32916471	32920690		Dai, Y.  et al. 2005	16224524				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Beijing da xue xue bao Yi xue ban. 2005 Oct;37(5):508-12	[Association between LMP2/LMP7 gene polymorphism and the infection of hepatitis B virus]		177046	13370	2	2005	 These findings suggest that polymorphisms of LMP2/LMP7 gene is one of the important host factors which independently affect on the infection of hepatitis B virus.											
133348		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Acute Disease	6	6p21.3	PSMB8	32916471	32920690			16396320				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Tsitol Genet. 2005 Nov-Dec;39(6):50-4	[The frequency of allelic polymorphism of genes encoding immunoproteasome catalytic subunits in acute coronary syndrome patients]		177046	13371	2	2005												
133343		arthritis, juvenile	OTHER	OTH	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Prahalad, S.  et al. 2001	11669176				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			The Journal of rheumatology. 2001 Oct;28(10):2320-5	Polymorphism in the MHC-encoded LMP7 gene:association with JRA without functional significance for immunoproteasome assembly.		177046	13366	2	2001	 These results support an association between LMP7QQ homozygosity and JRA, particularly early onset disease. The difference persists with stratification, at least for DR5(11) and DPB1*0201, suggesting that this effect is unlikely to be due to linkage disequilibrium with HLA alleles known to be associated with early onset pauciarticular JRA. Importantly, as there does not appear to be functional significance associated with the LMP7 polymorphism, this may be a marker for another as yet unidentified susceptibility locus.	Case:207 patients with juvenile rheumatoid arthritis;Control:50 controls not otherwise specified in abstract										
133344		interferon response	IMMUNE	IMM		6	6p21.3	PSMB8	32916471	32920690		Mishto, M.  et al. 2002	11772516				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Experimental gerontology. 2002 Jan-Mar;37(3-Feb):301-8	Age dependent impact of LMP polymorphisms on TNFalpha-induced apoptosis in human peripheral blood mononuclear cells		177046	13367	2	2002	No correlation with TNFalpha-induced apoptosis and no difference in frequency between young people and nonagenarians/centenarians was observed when the LMP7 nucleotide 145 polymorphism was studied.	Case:157 nonagenarians and centenarians;Control:311 young people										
133345		Alzheimers disease; juvenile arthritis	NEUROLOGICAL	NEUR		6	6p21.3	PSMB8	32916471	32920690		Vargas-Alarcon, G.  et al. 2002	12209365				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Mexican		CDC GDPinfo	5696	Hs.180062			Genes and immunity. 2002 Sep;3(6):373-7	LMP2 and LMP7 gene polymorphism in Mexican populations: Mestizos and Amerindians.		177046	13368	2	2002	The present data corroborate the influence of Spaniard and Amerindian genes in the Mexican Mestizo population and could help to define the true significance of LMP polymorphism as genetic and evolutive marker in the Amerindian populations.	Cohort 312 Mexican individuals (95 Mexican Mestizos, 48 Nahuas, 56 Mazatecans, 50 Teenek, and 63 Mayos) belonging to different ethnic groups 										
133340		JRA	OTHER	OTH	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Prahalad S et al. 2001	11669176				proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			KGB	5696	Hs.180062			The Journal of rheumatology. 2001 Oct;28(10):2320-5	Polymorphism in the MHC-encoded LMP7 gene: association with JRA without functional significance for immunoproteasome assembly.		177046	5197	1	2001	 These results support an association between LMP7QQ homozygosity and JRA, particularly early onset disease. The difference persists with stratification, at least for DR5(11) and DPB1*0201, suggesting that this effect is unlikely to be due to linkage disequilibrium with HLA alleles known to be associated with early onset pauciarticular JRA. Importantly, as there does not appear to be functional significance associated with the LMP7 polymorphism, this may be a marker for another as yet unidentified susceptibility locus.											
133341		sarcoidosis.	OTHER	OTH	Sarcoidosis	6	6p21.3	PSMB8	32916471	32920690		Ishihara M et al. 1997	9458120			intron	proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Japanese	Japan	KGB	5696	Hs.180062			Tissue antigens. 1997 Dec;50(6):650-3	Genetic polymorphism in intron 6 of the LMP7 gene in Japanese and its association with sarcoidosis.		177046	5198	1	1997												
133342		liver disease	OTHER	OTH	Hepatitis C, Chronic	6	6p21.3	PSMB8	32916471	32920690		Kuzushita, N.  et al. 2001	11494532				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDPinfo	5696	Hs.180062			Nippon rinsho Japanese journal of clinical medicine. 2001 Jul;59(7):1248-53	[Involvement of TAP2 and LMP7 gene polymorphisms in HCV infection]		177046	13365	2	2001	The TAP2 polymorphism may be closely associated with low hepatitis activity, whereas the LMP7 polymorphism influences the efficacy of IFN treatment and can be a useful predictive parameter in HCV patients with a low viral load.	Case chronic liver disease patients with chronic HCV:infection;Control chronic HCV carriers with normal ALT	hepatitis C									
133337		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		McTernan CL 2004	11051286				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	British Caucasian	Great Britain	Y Wang	5696	Hs.180062			Diabetic medicine. 2000 Sep;17(9):661-6	Assessment of the non-HLA-DR-DQ contribution to IDDM1 in British Caucasian families: analysis of LMP7 polymorphisms		177046	5194	1	2004	 LMP7 alleles do not contribute to genetic susceptibility to Type 1 diabetes in subjects with high-risk-associated HLA-DR-DQ haplotypes.	Case IDDM1 affected offspring in 142 multiplex families from the British Diabetic Association Warren:Repository.:British;Control Parents of affected offspring										
133338		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	PSMB8	32916471	32920690		Undlien DE 2004	9000709				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4		Norway	Y Wang	5696	Hs.180062			Diabetes. 1997 Feb;46(2):307-12	No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM.		177046	5195	1	2004												
133339		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	PSMB8	32916471	32920690		Deng GY 2004	7847389				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Caucasian		Y Wang	5696	Hs.180062			American journal of human genetics. 1995 Feb;56(2):528-34	Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.		177046	5196	1	2004												
133334		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Prince, J. A.  et al. 2001	11436125				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1		Sweden	CDC GDPinfo	5664	Hs.25363			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		600759	28421	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
133335		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q27	PSMB1	170622031	170704312		Chistiakov, D. A.  et al. 2005	15848047				Proteasome (prosome, macropain) subunit, beta type, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002793.2	Russian	Russia	CDC GDPinfo	5689	Hs.352768			Journal of autoimmunity. 2005 May;24(3):243-50	Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set.		602017	23299	2	2005												
133336	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Ding H et al. 2001	11793848				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	south Chinese Han		Y Wang	5696	Hs.180062			Chinese medical journal. 2001 Dec;114(12):1263-6	Relationship of large multifunctional proteasome 7 gene polymorphism withsusceptibility to type 1 diabetes mellitus and DR3 gene.		177046	5193	1	2001	 LMP7-B/B may be the protective genotype, and LMP7-B/A may be the susceptible genotype of DM-1, and this may not be affected by the DR3 gene. Persons with LMP7-B/B may have a decreased risk, and those with LMP7-B/A have an increased risk suffering from DM-1. The LMP7 gene may not be associated with the age of diabetic onset.	Case:71 diabetes mellitus type 1 patients;Control:86 healthy people										
133331		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Zekanowski, C.  et al. 2003	14769392				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Polish	Poland	CDC GDPinfo	5664	Hs.25363			Experimental neurology. 2003 Dec;184(2):991-6	Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.		600759	26520	2	2003	It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.	Cohort 40 Polish patients with familial early-onset Alzheimer's disease Poland 										
133332		Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal	NEUROLOGICAL	NEUR	Tourette Syndrome|Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Ezquerra, M.  et al. 2003	12925374				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			CDC GDPinfo	5664	Hs.25363			Archives of neurology. 2003 Aug;60(8):1149-51	A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease		600759	26521	2	2003	 We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.	Cohort 130 control individuals 										
133333		dementia	PSYCH	PSY	Dementia|Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Signorini, S.  et al. 2004	15975068				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Italian	Italy	CDC GDPinfo	5664	Hs.25363			Current Alzheimer research. 2004 Aug;1(3):215-8	Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.		600759	26522	2	2004												
133327		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q31-q42	PSEN2	225125582	225150422		Riazanskaia, N.  et al. 2002	12232783				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			CDC GDPinfo	5664	Hs.25363			Molecular psychiatry. 2002 ;7(8):891-8	Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contributionto the gene activity and risk for AD.		600759	19123	2	2002	These results suggest that under Pl and oxygen stress conditions relatively minor variations in PSEN2 promoter DNA sequence structure can enhance PSEN2 gene expression and that consequently these may play a role in the induction and/or proliferation of a Pl response in AD brain.AD	Case Alzheimer's disease patients;Control age-matched control individuals										
133328		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Quan, W.  et al. 2005	16233903				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			CDC GDPinfo	5664	Hs.25363			Journal of the neurological sciences. 2006 Jan;240(2-Jan):71-5	Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease:A case-control study.		600759	23297	2	2005	 Our results fail to support an association of presenilin-2 gene polymorphism with Alzheimer's disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.											
133330	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Arango, D.  et al. 2001	11568920				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Colombian	Colombia	CDC GDPinfo	5664	Hs.25363			American journal of medical genetics. 2001 Oct;103(2):138-43	Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloidbeta precursor protein and presenilin genes in Colombia.		600759	25470	2	2001	The majority of the Colombian AD cases, predominantly late-onset, were negative for PSEN and APP mutations.	Control:53 controls (not otherwise specified in abstract);Case:76 Alzheimer's disease patients (11 autosomal dominant, 23 familial, and 42 sporadic AD patient):Colombia										
133323	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Tourette Syndrome|Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Ezquerra M 2003	12925374				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			KGB	5664	Hs.25363			Archives of neurology. 2003 Aug;60(8):1149-51	A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.		600759	5191	1	2003	 We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.	Cohort 130 control individuals										
133324		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Choristoma|Disease Progression	1	1q31-q42	PSEN2	225125582	225150422		Marcon G 2004	15055444	M239V			Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Italian	Italy	KGB	5664	Hs.25363			Journal of neuropathology and experimental neurology. 2004 Mar;63(3):199-209	Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.		600759	5192	1	2004												
133326	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Howell, W. M.  et al. 2002	12210343				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			CDC GDPinfo	5664	Hs.25363			American journal of medical genetics. 2002 Aug;111(2):157-63	Evaluation of multiple presenilin 2 SNPs for association with early-onset sporadic Alzheimer disease.		600759	19122	2	2002	From this study we find no evidence to suggest that variations in the PSEN2 gene pose as major risk factors for sporadic EOAD.	Case:121/84 Scottish early onset Parkinson's disease cases;Control:152/173:controls										
133319		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Prince, J. A.  et al. 2001	11436125				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		Sweden	CDC GDPinfo	5663	Hs.592324			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		104311	28396	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
133320		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Honda M et al. 1999	10595683			intron	Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			KGB	5664	Hs.25363			Psychiatry and clinical neurosciences. 1999 Oct;53(5):579-85	Novel intronic polymorphisms in the presenilin-2 gene and a case-control association study of Alzheimer's disease.		600759	5188	1	1999												
133321	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Di Natale M et al. 2003	12770698			promoter	Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Italian	Italy	KGB	5664	Hs.25363			Neuroscience letters. 2003 Jun;343(3):210-2	Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.		600759	5189	1	2003	The current study does not support the notion that the polymorphism in the PS2 gene constitutes a risk factor for either late-onset or early-onset AD, which means that other genetic factors play a role in the development of AD in the Italian population.	Control:160 normal controls matched by age, gender and:ethnicity;Case:200 sporadic Alzheimer's disease cases:Italy										
133315		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Zekanowski, C.  et al. 2003	14769392				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Polish	Poland	CDC GDPinfo	5663	Hs.592324			Experimental neurology. 2003 Dec;184(2):991-6	Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.		104311	25466	2	2003	It could be concluded that screening for mutations in the three genes could be included in a diagnostic program directed at patients with a positive family history or age of onset before 55 years.	Cohort 40 Polish patients with familial early-onset Alzheimer's disease Poland 										
133316		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Kim, K. W.  et al. 2000	11129109				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Korean	Korea	CDC GDPinfo	5663	Hs.592324			J Neural Transm. 2000 ;107(10):1191-200	No association between presenilin 1 (PS1) intronic polymorphism and sporadic Alzheimer's disease in Koreans.		104311	25467	2	2000	the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.	Case:100 sporadic AD patients:Korea;Control:199 normal elderly individuals:Korea										
133318		dementia	PSYCH	PSY	Dementia|Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Signorini, S.  et al. 2004	15975068				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Italian	Italy	CDC GDPinfo	5663	Hs.592324			Current Alzheimer research. 2004 Aug;1(3):215-8	Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.		104311	25469	2	2004												
133312	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Matsubara-Tsutsui, M.  et al. 2002	12413003				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Internal medicine (Tokyo, Japan). 2002 Oct;41(10):823-8	The 4,752 C/T polymorphism in the presenilin 1 gene increases the risk of Alzheimer's disease in apolipoprotein E4 carriers.		104311	23294	2	2002	 The PSEN1 gene -4,752 C/T polymorphism modifies the risk for AD.	Case:189 Alzheimer's disease cases;Control:240:controls										
133313		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Chandak, G. R.  et al. 2002	12495082				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Indian	India	CDC GDPinfo	5663	Hs.592324			Human biology; an international record of research. 2002 Oct;74(5):683-93	Apolipoprotein E and presenilin-1 allelic variation and Alzheimer's disease in India.		104311	23295	2	2002	We report a low frequency of APOE E*4 allele, consistent with a low prevalence of AD in this study. Comparisons with other similar studies on APOE from India suggest common risk factors for AD in the Indian population, which is diverse in its ethnic and racial characteristics. The frequency for allele 1 at PS-1 intron-8 polymorphism is the highest among all studies reported. This first report of PS-1 intron-8 polymorphism and AD from India demonstrates no significant association.	Control:100 age- and sex-matched nondemented controls;Case:49 Alzheimer's disease cases:India										
133314	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Arango, D.  et al. 2001	11568920				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Colombian	Colombia	CDC GDPinfo	5663	Hs.592324			American journal of medical genetics. 2001 Oct;103(2):138-43	Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloidbeta precursor protein and presenilin genes in Colombia.		104311	23296	2	2001	The majority of the Colombian AD cases, predominantly late-onset, were negative for PSEN and APP mutations.	Control:53 controls (not otherwise specified in abstract);Case:76 Alzheimer's disease patients (11 autosomal dominant, 23 familial, and 42 sporadic AD patient):Colombia										
133309	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR		14	14q24.3	PSEN1	72672931	72756862		Liu, X.  et al. 2004	15476169				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):455-8	[Study on mutation of presenilin-1 gene in familial Alzheimer's disease]		104311	19120	2	2004	 Mutations in exon 6 of presenilin-1 existed in the patients with FAD and SDA, and the two missense mutations were probably pathological by nature.	Case:2/53/60 patients with familial (n=2), patients with sporadic Alzheimer's disease (n=53) and patients with vascular dementia(n=60);Control:90 normal controls										
133310	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Ma, Q.  et al. 2000	11110974				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):390-4	[Analysis of the interaction of the polymorphisms of presenilin-1 gene and ApoE gene in Alzheimerns disease]		104311	23292	2	2000	 These results indicated that allele 2 of PS-1 gene and E(2) allele of ApoE gene might protect people from SAD, that allele 1 of PS-1 gene might increase the risk of the onset of SAD, and that the onset of SAD was not associated with the interaction of the polymorphisms of PS-1 gene and ApoE gene.	Control:73 normal controls;Case:75 patients with sporadic Alzheimer's disease										
133311	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Cui, T.  et al. 2000	11775232				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Chinese medical journal. 2000 Apr;113(4):340-4	Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease.		104311	23293	2	2000	 apoE epsilon 4 gene appears to be the strongest gene risk factor for late-onset AD and its apparent association between the IE1 G/G genotype and late-onset AD is a consequence of the association between the epsilon 4 and IE1 G/G genotype. The PS-1/1 genotype is weakly associated with late-onset AD.	Control age-matched controls;Case:42 Alzheimer's disease patients										
133306		Alzheimer's Disease	NEUROLOGICAL	NEUR		14	14q24.3	PSEN1	72672931	72756862		Ardila, A.  et al. 2000	14590205				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Archives of clinical neuropsychology. 2000 Aug;15(6):515-28	Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation.		104311	19116	2	2000	Results supported the hypothesis that memory complaints represent the earliest symptom of familial Alzheimer's disease. In addition to the memory difficulties, other minor cognitive impairments were also found, particularly, mild anomia, concentration difficulties and defects in the understanding of complex verbal material.	Cohort 122 subjects (44 males, 78 females) 										
133307		attention deficit disorder; conduct disorder; oppositional defiant disorder	PSYCH	PSY	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		La Bella, V.  et al. 2004	15272895				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			European journal of neurology. 2004 Aug;11(8):521-4	A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.		104311	19118	2	2004	Our finding supports the indication that PSN1 mutations should be searched for in early-onset AD, particularly when a censor effect precludes a precise genetic analysis.	Cohort 100 healthy controls 										
133308		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Anomia	14	14q24.3	PSEN1	72672931	72756862		Tirado, V.  et al. 2004	15340889				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Revista de neurologia. 2004 Aug;39(4):322-6	[Performance of carriers and non-carriers of the E280A mutation for familial Alzheimer's disease in a naming test]		104311	19119	2	2004	 Visual mistakes are a general characteristic, even in healthy subjects and, therefore, these errors did not provide any information that could be used to classify patients with or without dementia. Semantic mistakes can be considered as being a preclinical sign in familial Alzheimer's disease (FAD). Both visual and auditory naming tests must be applied when evaluating patients with FAD.	Cohort 91 participants who were genotyped for the E280A PS1 										
133303	Y	memory impairment, subjective	NEUROLOGICAL	NEUR	Alzheimer Disease|Memory Disorders	14	14q24.3	PSEN1	72672931	72756862		Laws, S. M.  et al. 2002	11755019				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Neurobiology of aging. 2002 Jan-Feb;23(1):55-8	Association between the presenilin-1 mutation Glu318Gly and complaints of memory impairment.		104311	19111	2	2002	The presence of the Glu318Gly mutation was associated with significantly lower cognitive performance when compared to controls (P = 0.011). However, there was no significant association between the presence of the mutation and the cognitive performance of individuals within the memory complainers group. Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life.	Case:58 non-demented volunteers with subjective memory:impairment;Control:66 controls not otherwise specified in abstract										
133304		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Taddei, K.  et al. 2002	12192622				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Australian	Australia	CDC GDPinfo	5663	Hs.592324			Molecular psychiatry. 2002 ;7(7):776-81	Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population		104311	19112	2	2002	These findings show that the frequency of the Glu318Gly mutation is increased in FAD patients, suggesting a potential role as a genetic risk factor contributing to the pathogenesis of familial AD.	Cohort 682 subjects 										
133305		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Kowalska, A.  et al. 2003	12817569				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		Poland	CDC GDPinfo	5663	Hs.592324			Journal of applied genetics. 2003 ;44(2):231-4	Molecular genetics of Alzheimer's disease:presenilin 1 gene analysis in a cohort of patients from the Poznan region.		104311	19114	2	2003	The frequency of PS1 mutations was 11% (5 of 55) in the whole sample of the patients with EOAD or 50% (3 of 6) if the analysis was restricted to familial cases with a positive history of dementia in the patient's family.	Cohort 55 patients with familial or sporadic form of early-onset AD Poznan region 										
133300	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Zdot Ekanowski, C.  et al. 2004	15480851	(-22c/t )			Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Polish	Poland	CDC GDPinfo	5663	Hs.592324			J Neural Transm. 2005 Jun;112(6):839-45	The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland.		104311	13362	2	2004	Our results suggest that -22c/t polymorphism is not connected with AD in Polish population. The -22t allele showed a high degree of linkage disequilibrium with -2797 insertion of 13 bp. An additional -2923g/t polymorphism is also not connected with -22c/t and is not a risk factor for AD.	Cohort Polish late-onset and early-onset Alzheimer's disease patients 										
133301		dementia	PSYCH	PSY	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Rodriguez-Manotas, M.  et al. 2005	16139258			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Clinica chimica acta; international journal of clinical chemistry. 2006 Feb;364(2-Jan):343-4	Real time PCR assay with fluorescent hybridization probes for genotyping intronic polymorphism in presenilin-1 gene.		104311	13363	2	2005	 This method provides excellent robustness, speed, and accuracy, and is well suited for determination of the polymorphism in both small and large numbers of samples. This assay could help to overcome the controversy regarding the association between the PS1 s165932 intronic polymorphism and Alzheimer's disease.											
133302	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Rogaeva, E. A.  et al. 2001	11524469				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Neurology. 2001 Aug;57(4):621-5	Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.		104311	19109	2	2001	 Eleven percent of a referral-based series of patients with AD can be explained by coding sequence mutations in the PS1 gene. The high frequency of PS1 mutations in this study indicates that screening for PS1 mutations in AD is likely to be successful, especially when directed at patients with a positive family history with onset before 60 years (90% of those with PS1 mutations were affected by age 60 years). This will also have significance for the secondary identification of at-risk relatives who might be candidates for future prophylactic therapies for AD.	Cohort 414 consecutive patients referred for diagnostic testing, including 372 patients with AD and 42 asymptomatic persons with a strong family history of AD 										
133297	Y	Alzheimer's disease; Abeta load in brain	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Lambert, J. C.  et al. 2001	11389157	(-48 C/T)		promoter	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Journal of medical genetics. 2001 Jun;38(6):353-5	The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.		104311	13357	2	2001	These results suggest that the -48 C/T polymorphism in the PS1 promoter may increase the risk of AD, perhaps by altering PS1 gene expression and thereby influencing Abeta load.	Cohort Alzheimer's disease brains 										
133298	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Araria-Goumidi, L.  et al. 2002	12111439	(-48 C/T)			Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			J Neural Transm. 2002 Jul;109(8-Jul):1023-7	No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.		104311	13359	2	2002	Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.	Case Alzheimer's disease patients;Control:controls										
133299	Y	Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	14	14q24.3	PSEN1	72672931	72756862		Lucarelli, P.  et al. 2004	15308304	(-48 C/T)			Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Neuroscience letters. 2004 Aug;367(1):88-91	Association between presenilin-1 -48C/T polymorphism and Down's syndrome.		104311	13361	2	2004	The association found suggests that the -48C/T polymorphism in the PSN1 gene promoter, which is involved in the modulation of amyloid beta load in human AD, is associated with DS. However, the biological role of this polymorphism in DS-related dementia remains unclear and merits further investigation.	Control:197:controls;Case:260 Down syndrome patients:Italy										
133293		early-onset familial Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Tedde A 2003	14623725				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Archives of neurology. 2003 Nov;60(11):1541-4	Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.		104311	5185	1	2003	 One novel PS2 mutation associated with highly penetrant but variable age at onset (35-85 years) and 2 novel PS1 missense mutations associated with early-onset Alzheimer disease at age 49 to 54 years have been identified in Italian families. Screening for new mutations in presenilin and betaAPP genes was beneficial in characterizing gene function in FAD.											
133294	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Miklossy J 2003	12885573				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neurobiology of aging. 2003 Sep;24(5):655-62	Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.		104311	5186	1	2003												
133296		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	14	14q24.3	PSEN1	72672931	72756862		Panas, M.  et al. 2000	11200686				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Journal of neurology. 2000 Dec;247(12):940-2	Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.		104311	13356	2	2000	These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.	Control:213 randomly sampled heatlhy individuals;Case:72 patients with amyotrophic lateral sclerosis										
133289	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Tysoe C et al. 1997	9121726			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroscience letters. 1997 Jan;222(1):68-9	Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.		104311	5181	1	1997												
133290	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Bagli M et al. 1999	10500259			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	German	Germany	KGB	5663	Hs.592324			Journal of the neurological sciences. 1999 Aug;167(1):34-6	No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a German population.		104311	5182	1	1999												
133291	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Singleton AB et al. 1997	9347936			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroscience letters. 1997 Sep;234(1):19-22	No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer's disease.		104311	5183	1	1997	We conclude that  there is no relationship between this intronic polymorphism in the PS-1 gene and AD in the homogenous population genotyped in this study.											
133292		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Busciglio J et al. 1997	9185547				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			The Journal of neuroscience. 1997 Jul;17(13):5101-7	Neuronal localization of presenilin-1 and association with amyloid plaques and neurofibrillary tangles in Alzheimer's disease.		104311	5184	1	1997												
133285	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862	n	Araria-Goumidi L et al. 2002	12111439				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			J Neural Transm. 2002 Jul;109(8-Jul):1023-7	No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population.		104311	5177	1	2002	Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.	Case Alzheimer's disease patients;Control:controls										
133286	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Poduslo SE et al. 1996	8905716				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroreport. 1996 Aug;7(12):2018-20	A presenilin 1 mutation in an early onset Alzheimer's family: no association with presenilin 2.		104311	5178	1	1996												
133287	Y	Down syndrome	OTHER	OTH	Down Syndrome	14	14q24.3	PSEN1	72672931	72756862		Petersen MB et al. 2000	10951459				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			American journal of medical genetics. 2000 Aug;93(5):366-72	Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome.		104311	5179	1	2000												
133288	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Lambert JC et al. 2001	11389157			promoter	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Journal of medical genetics. 2001 Jun;38(6):353-5	The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.		104311	5180	1	2001	These results suggest that the -48 C/T polymorphism in the PS1 promoter may increase the risk of AD, perhaps by altering PS1 gene expression and thereby influencing Abeta load.	Cohort Alzheimer's disease brains										
133281	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Nishiwaki Y et al. 1997	9180219			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Japanese	Japan	KGB	5663	Hs.592324			Neuroscience letters. 1997 May;227(2):123-6	T/G polymorphism at intron 9 of presenilin 1 gene is associated with but not responsible for sporadic late-onset Alzheimer's disease in Japanese population.		104311	5173	1	1997												
133282	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Kwok JB et al. 1997	9172170				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroreport. 1997 Apr;8(6):1537-42	Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.		104311	5174	1	1997												
133283	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Gantier R et al. 1999	10549825				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroreport. 1999 Sep;10(14):3071-4	The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop.		104311	5175	1	1999												
133284		Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease|Dementia, Vascular|Alcoholism	14	14q24.3	PSEN1	72672931	72756862		Isoe K et al. 1996	8947284				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Japanese	Japan	KGB	5663	Hs.592324			Acta neurologica Scandinavica. 1996 Nov;94(5):326-8	Presenilin-1 polymorphism in patients with Alzheimer's disease vascular dementia and alcohol-associated dementia in Japanese population.		104311	5176	1	1996												
133277	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Ezquerra M et al. 2000	10768621				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		Spain	KGB	5663	Hs.592324			Archives of neurology. 2000 Apr;57(4):485-8	A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.		104311	5169	1	2000	 A novel missense mutation (Leu166Arg) at an atypical site associated with early-onset Alzheimer disease has been identified in a Spanish family.											
133278	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Romas SN et al. 2000	10815136				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Archives of neurology. 2000 May;57(5):699-702	No association between a presenilin 1 polymorphism and Alzheimer disease.		104311	5170	1	2000	 We could not confirm the relationship between the PS1 intron 8 polymorphism and LOAD in this collection of families.											
133279	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Taddei K et al. 1998	9792621			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		Australia	KGB	5663	Hs.592324			Neuroscience letters. 1998 May;246(3):178-80	No association of presenilin-1 intronic polymorphism and Alzheimer's disease in Australia.		104311	5171	1	1998												
133280	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	0.006	Kehoe at al Neuroreport (1996); Vol 7; 2155-2158	8930979	Intronic SNP 3' of exon 9	Not known	other	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	UK Caucasian		KGB/PGK	5663	Hs.592324	Alzheimer's dementia		Neuroreport. 1996 Sep;7(13):2155-8	Association between a PS-1 intronic polymorphism and late onset Alzheimer's disease.		104311	5172	1	1996		Case:201; Control:272										
133273	Y	cerebral amyloid angiopathy	AGING	AGE	Cerebral Amyloid Angiopathy	14	14q24.3	PSEN1	72672931	72756862		Yamada M et al. 1997	9368568				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Stroke; a journal of cerebral circulation. 1997 Nov;28(11):2219-21	Association of presenilin-1 polymorphism with cerebral amyloid angiopathy in the elderly.		104311	5165	1	1997	 Our results suggest that PS-1 intronic polymorphism may be associated with the severity of CAA in the elderly.											
133275		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Lleo A et al. 2002	12042135				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Med Clin (Barc). 2002 May;118(18):698-700	Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T) trans Caracteristicas clinicas de una familia con enfermedad de Alzheimer de inicio temprano asociada a una mutacion (M139T) en el		104311	5167	1	2002	 The clinical picture of this family carrying the M139T mutation was similar to that of the sporadic variant of Alzheimer's disease. The observed variability in the age of onset suggests that, yet being genetically determined, other genetic or environmental factors modify the clinical expression of the disease.											
133276	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Kim KW et al. 2000	11129109			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Korean	Korea	KGB	5663	Hs.592324			J Neural Transm. 2000 ;107(10):1191-200	No association between presenilin 1 (PS1) intronic polymorphism and sporadic Alzheimer's disease in Koreans.		104311	5168	1	2000	the PS1 intronic polymorphism did not modify the risk for sporadic AD, neither independently nor synergistically with the APOE epsilon4 allele or ACT A allele, in Koreans.	Case:100 sporadic AD patients:Korea;Control:199 normal elderly individuals:Korea										
133269		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	19	19q13.13-q13.2	PRX	45591510	45611111		Boerkoel, C. F.  et al. 2002	11835375				Periaxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020956.1			CDC GDPinfo	57716	Hs.205457			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		605725	28185	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
133270	Y	frontotemporal dementia	NEUROLOGICAL	NEUR	Dementia	14	14q24.3	PSEN1	72672931	72756862		Tang-Wai D et al. 2002	12053127				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Dementia and geriatric cognitive disorders. 2002 ;14(1):13-21	Familial frontotemporal dementia associated with a novel presenilin-1 mutation.		104311	5162	1	2002	We conclude that  the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations. Furthermore, presenilin analyses may be helpful to characterize kindreds with familial dementing illnesses regardless of the phenotype, particularly if no tau mutation is present.											
133271	N	Lewy bodies	OTHER	OTH	Parkinson Disease|Dementia|Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Singleton AB et al. 1997	9427340				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			KGB	5663	Hs.592324			Neuroreport. 1997 Nov;8(16):3637-9	No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies.		104311	5163	1	1997												
133272	Y	familial Alzheimer's disease associated	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Marui W et al. 2003	12755040				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Japanese		KGB	5663	Hs.592324			No to shinkei Brain and nerve. 2003 Apr;55(4):349-53	A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism		104311	5164	1	2003												
133266		granulomatosis, Wegener's	OTHER	OTH	Wegener Granulomatosis	19	19p13.3	PRTN3	791984	799175		Gencik, M.  et al. 2000	11115080				Proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002777.3			CDC GDPinfo	5657	Hs.928			Kidney international. 2000 Dec;58(6):2473-7	Proteinase 3 gene polymorphisms and Wegener's granulomatosis.		177020	13353	2	2000	 This study excludes certain PR3 epitope variants as autoantigenic stimuli in WG, since the Val119Ile polymorphism showed no differences between patients and controls. Overexpression of PR3, however, might predispose the patient to the development of autoimmune ANCA-associated vasculitis.											
133267		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis	19	19p13.3	PRTN3	791984	799175		Jagiello, P.  et al. 2005	15686586				Proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002777.3			CDC GDPinfo	5657	Hs.928			International journal of immunogenetics. 2005 Feb;32(1):6-Mar	Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene.		177020	13354	2	2005												
133268		low expression of NB1	OTHER	OTH		19	19q13.2	CD177	48549664	48559320		Wolff J 2003	12623849				CD177 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR592446			KGB	57126	Hs.232165			Blood. 2003 Jul;102(2):731-3	Lack of NB1 GP (CD177/HNA-2a) gene transcription in NB1 GP- neutrophils from NB1 GP-expressing individuals and association of low expression with NB1 gene polymorphisms.		162860	6788	1	2003												
133262		pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Bernardino, A. L.  et al. 2003	14526128				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2		Brazil	CDC GDPinfo	5644	Hs.511522			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients		276000	23291	2	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
133263		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q26.3	HTRA1	124211046	124264413		Ozturk, A.  et al. 2005	15917099				HtrA serine peptidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002775.3			CDC GDPinfo	5654	Hs.501280			Neurobiology of aging. 2005 Aug-Sep;26(8):1161-5	Three SNPs in the GSTO1, GSTO2 and PRSS11 genes on chromosome 10 are not associated with age-at-onset of Alzheimer's disease.		602194	24902	2	2005	Additional markers in these genes need to be screened to explore their role in the etiology of AD.	Control:735:controls;Case:990 sporadic late-onset Alzheimer's disease cases										
133264		HLA-associated diseases	IMMUNE	IMM	Autoimmune Diseases	6	6p21	PRSS16	27323486	27332229		Lie BA et al. 2002	12140752				Protease, serine, 16 (thymus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005865.2			KGB	10279	Hs.274407			Genes and immunity. 2002 Aug;3(5):306-12	Polymorphisms in the gene encoding thymus-specific serine protease in the extended HLA complex: a potential candidate gene for autoimmune and HLA-associated diseases.		607169	6657	1	2002												
133259		pancreatitis; hypertrypsinemia	IMMUNE	IMM	Pancreatitis|Infant, Newborn, Diseases	7	7q32-qter	PRSS1	142136903	142182363		Gomez Lira, M.  et al. 2001	12120234				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			Pancreatology. 2001 ;1(5):538-42	CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.		276000	23288	2	2001	 The CFTR gene may be involved in IP and NHNST, while the Try4 gene may be involved in IP, but not in NHNST, in this limited series of observations.	Cohort 32/50 sporadic idiopathic pancreatitis patients (N=32) and neonates with hypertrypsinemai and normal sweat chloride tests (n=50) 										
133260		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q32-qter	PRSS1	142136903	142182363		Witt, H.   2001	12120220				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			Pancreatology. 2001 ;1(5):432-8	Gene mutations in children with chronic pancreatitis.		276000	23289	2	2001	In conclusion, our data suggest that CP may be inherited in a dominant, recessive or multigenetic manner as a result of mutations in the above-mentioned or as yet unidentified genes. This challenges the concept of idiopathic CP as a nongenetic disorder and the differentiation between hereditary and idiopathic CP. Therefore, we propose to classify CP as either 'primary CP' (with or without a family history) or 'secondary CP' caused by toxic, metabolic or other factors.	Cohort 164 unrelated children and adolescents with idiopathic chronic pancreatitis 										
133261		pancreatitis	IMMUNE	IMM	Pancreatitis, Alcoholic	7	7q32-qter	PRSS1	142136903	142182363		Perri, F.  et al. 2003	12939655				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			European journal of human genetics. 2003 Sep;11(9):687-92	Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis		276000	23290	2	2003	The supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse.	Cohort 45/34 unrelated alcoholic chronic pancreatitis patients (n=45) and patients with alcoholic liver disease (n=34) 										
133256		pancreatitis	IMMUNE	IMM	Pancreatitis|Diabetes Mellitus|Chronic Disease	7	7q32-qter	PRSS1	142136903	142182363		Bhatia, E.  et al. 2002	12360463				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2		India	CDC GDPinfo	5644	Hs.511522			Gastroenterology. 2002 Oct;123(4):1020-5	Tropical calcific pancreatitis: strong associationwith SPINK1 trypsin inhibitor mutations.		276000	19104	2	2002	 TCP is highly associated with the SPINK1 N34S mutation. The high prevalence of N34S in TCP patients with and without diabetes suggests that these 2 subtypes have a similar genetic predisposition. The genetic predisposition to TCP resembles, at least in part, the idiopathic chronic pancreatitis found in industrialized countries.	Case:66 unrelated TCP patients (44 men, 49 with diabetes, and 6 with family history of TCP) and 25 relatives;Control:92 healthy control subjects										
133257	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Chandak, G. R.  et al. 2004	15082592				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			Gut. 2004 May;53(5):723-8	Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.		276000	19107	2	2004	 Irrespective of the aetiology, mutations in the PRSS1 gene are not associated with chronic pancreatitis, including HP. In contrast, the N34S mutation in the SPINK1 gene shows a significant correlation in these patients. A comparable phenotype in terms of age of onset, diabetes mellitus, and other phenotypic features in patients with or without SPINK1 mutations and N34S homozygotes and heterozygotes suggests that there may still be involvement of other genetic or environmental factors.	Case:198 pancratitis patients, of whom 120 were diagnosed as idiopathic (ICP), 41 as alcoholic (ACP), and 37 as hereditary pancreatitis (HP);Control:290:controls										
133258	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Lee, K. H.  et al. 2004	15329520				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2	Korean		CDC GDPinfo	5644	Hs.511522			The Korean journal of gastroenterology. 2004 Aug;44(2):93-8	[Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis]		276000	19108	2	2004	 SPINK1 and PRSS1 mutations are not related to the development of CP in Korea.	Control:19:controls;Case:71 Korean patients with chronic pancreatitis										
133253		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q32-qter	PRSS1	142136903	142182363		O'Reilly, D. A.  et al. 2001	11549837				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			Digestion. 2001 ;64(1):54-60	Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis.		276000	19099	2	2001	 Mutations of the cationic trypsinogen gene are rarely found in chronic pancreatitis patients of typical aetiology. Screening for these mutations should be considered in those with a family history consistent with hereditary pancreatitis but may also be appropriate in a well-defined subgroup of patients with non-hereditary chronic pancreatitis, i.e. those who have developed the disease before the age of 30.	Control:20 alcoholic controls;Control:20 healthy, ethnically matched controls;Case:53 patients with chronic pancreatitis (36 alcoholic, 14 idiopathic and 3 hereditary)										
133254		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Teich, N.  et al. 2002	11866271				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDPinfo	5644	Hs.511522			The American journal of gastroenterology. 2002 Feb;97(2):341-6	Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of furthertrypsinogen variants.		276000	19100	2	2002	 The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP. The CT gene carries several variations that could be associated with chronic pancreatitis. To avoid overestimating the pathogenetic impact of novel trypsinogen variants, a detailed clinical characterization of all patients with early onset chronic pancreatitis is mandatory.	Case:523 patients with chronic nonalcoholic pancreatitis (108 patients with suspected hereditary pancreatitis (HP) and 415 patients with "idio:pathic" pancreatitis [IP]);Control:82 controls not specified in abstract										
133255		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Audrezet, M. P.  et al. 2002	11938439				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2		France	CDC GDPinfo	5644	Hs.511522			European journal of human genetics. 2002 Feb;10(2):100-6	Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.		276000	19101	2	2002	Thus, in total, about 30% of ICP patients carried at least one abnormal allele in one of the three genes, and this is the most conservative estimate. Moreover, a trans-heterozygous state with sequence variations in the PSTI/CFTR genes was found in three patients. However, an association between the 5T allele in intron 8 of the CFTR gene and ICP remains unproven.											
133250		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	12	12q12-q13	PRPH	47975175	47978748		Boerkoel, C. F.  et al. 2002	11835375				Peripherin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006262.3			CDC GDPinfo	5630	Hs.37044			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		170710	28101	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
133251	Y	chronic pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q32-qter	PRSS1	142136903	142182363		Witt H et al. 1999	10381903	A16V	unknown	coding sequence	Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2	German		HW	5644	Hs.511522	idiopathic pancreatitis		Gastroenterology. 1999 Jul;117(1):10-Jul	A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.		276000	5156	1	1999	 Heterozygosity for the A16V mutation is strongly associated with CP. These results indicate that a significant percentage of patients with idiopathic CP may have a genetic basis for their disorder; therefore, genetic testing should be included in the diagnostic evaluation of these patients.	Case:44; Control:95										
133252		pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Bernardino AL 2003	14526128				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2	Brazilian	Brazil	KGB	5644	Hs.511522			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.		276000	5157	1	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
133246		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Thrombosis|Ischemia	13	13q34	PROZ	112860968	112874695		Staton, J.  et al. 2005	15879328				Protein Z, vitamin K-dependent plasma glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003891.1			CDC GDPinfo	8858	Hs.1011			Stroke; a journal of cerebral circulation. 2005 Jun;36(6):1123-7	Protein Z Gene Polymorphisms, Protein Z Concentrations, and Ischemic Stroke		176895	13351	2	2005	 The consistency of the association between protein Z genotypes, blood concentrations of protein Z, and ischemic stroke, determined using 2 different methods that have different sources of bias strengthens the evidence that increased blood concentrations of protein Z concentrations are associated causally with an increased risk of ischemic stroke.	Case:151 hospital cases of first-ever ischemic stroke;Control:164 randomly selected community controls										
133247		cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Venous Thrombosis	13	13q34	PROZ	112860968	112874695		Lichy, C.  et al. 2005	16155788				Protein Z, vitamin K-dependent plasma glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003891.1			CDC GDPinfo	8858	Hs.1011			Journal of neurology. 2005	Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems.		176895	25465	2	2005	 In this large series of CVT patients, a positive association with established thrombophilic risk factors FVL and especially the PT G20210A mutation was confirmed. In contrast, our study found no significant association of CVT with SNPs of the TAFI and the PZ genes. Other than testing for FVL and the PT G20210A mutation, exploration of these potential thrombophilic variants seems to be of limited value in the investigation of CVT.											
133248	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	12	12q12-q13	PRPH	47975175	47978748		Gros-Louis, F.  et al. 2004	15322088				Peripherin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006262.3			CDC GDPinfo	5630	Hs.37044			The Journal of biological chemistry. 2004 Oct;279(44):45951-6	A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.		170710	19097	2	2004	These results suggest that PRPH mutations may be responsible for a small percentage of ALS cases and they provide further support to the view that neurofilament disorganization may contribute to pathogenesis.	Case a cohort of ALS patients including familial (FALS) and sporadic (SALS) cases;Control:380 control individuals										
133243		protein S deficiency	OTHER	OTH	Thrombophlebitis|Protein S Deficiency|Genetic Predisposition to Disease|Recurrence	3	3q11.2	PROS1	95074646	95175395		Yamazaki T et al. 1995	8584989				Protein S (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000313.1			KGB	5627	Hs.64016			Thrombosis and haemostasis. 1995 Aug;74(2):590-5	A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.		176880	5155	1	1995												
133244	Y	cerebral ischemia	CARDIOVASCULAR	CARD	Brain Ischemia	13	13q34	PROZ	112860968	112874695		Lichy C 2004	14671240				Protein Z, vitamin K-dependent plasma glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003891.1	German	Germany	KGB	8858	Hs.1011	protein Z plasma levels		Stroke; a journal of cerebral circulation. 2004 Jan;35(1):40-5	A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young.		176895	6601	1	2004	 The A allele of an intron F polymorphism of the PZ gene appears to be a novel protective genetic marker for the risk of cerebral ischemia in young adults. In the context of juvenile stroke, high PZ plasma levels may represent a prothrombotic condition.	Control:199 control subjects from the same geographic region;Case:200 patients with cerebral ischemia aged southern Germany										
133245	Y	cerebral ischemia	CARDIOVASCULAR	CARD	Brain Ischemia	13	13q34	PROZ	112860968	112874695		Lichy, C.  et al. 2003	14671240				Protein Z, vitamin K-dependent plasma glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003891.1		Germany	CDC GDPinfo	8858	Hs.1011			Stroke; a journal of cerebral circulation. 2004 Jan;35(1):40-5	A common polymorphism of the protein Z gene is associated with protein Z plasma levels and with risk of cerebral ischemia in the young.		176895	13350	2	2003	 The A allele of an intron F polymorphism of the PZ gene appears to be a novel protective genetic marker for the risk of cerebral ischemia in young adults. In the context of juvenile stroke, high PZ plasma levels may represent a prothrombotic condition.	Control:199 control subjects from the same geographic region;Case:200 patients with cerebral ischemia aged southern Germany										
133239	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Williams, H. J.  et al. 2003	12815738				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			CDC GDPinfo	5625	Hs.517352			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):42-6	Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia.		606810	19094	2	2003	These results do not suggest that PRODH or PsPRODH contribute to the aetiology of schizophrenia, and that the putative schizophrenia susceptibility gene in 22q11 remains unknown.	Case:368 schizophrenic subjects;Control:368 matched controls										
133240	N	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.21	PRODH	17280294	17304066	not significant	Jamra, R. A.  et al. 2005	16094254		no functional effect of the studied variants.		Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2	European, German		CDC GDPinfo	5625	Hs.517352			Psychiatric genetics. 2005 Sep;15(3):195-8	No evidence for an association between variants at the proline dehydrogenase locus and schizophrenia or bipolar affective disorder.	PRODH*2026 (about 5kb centromeric to rs372055), rs372055, rs383964	606810	19095	2	2005	The restults do not support the association reported by Liu et al. (2002), Liu et al. (2003) and Li et al. (2004) and are in line with several negative studies.											
133242	Y	free protein S (type IIa) deficiency	OTHER	OTH	Thrombosis|Protein S Deficiency|Genetic Predisposition to Disease	3	3q11.2	PROS1	95074646	95175395		Duchemin J et al. 1995	7579448				Protein S (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000313.1			KGB	5627	Hs.64016			Blood. 1995 Nov;86(9):3436-43	The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.		176880	5154	1	1995												
133235	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	PRODH	17280294	17304066	P < 0.001	Liu H 2002	11891283			coding sequence	proline dehydrogenase (oxidase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2		Africa|United States|Europe	KGB	5625	Hs.517352			Proceedings of the National Academy of Sciences of the United States of America. 2002 Mar;99(6):3717-22			606810	5151	1	2002												
133237	Y	CATCH 22 syndrome	OTHER	OTH	Abnormalities, Multiple|Syndrome	22	22q11.21	PRODH	17280294	17304066		Jaeken J et al. 1996	8803768				proline dehydrogenase (oxidase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			KGB	5625	Hs.517352			Journal of inherited metabolic disease. 1996 ;19(3):275-7	Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.		606810	5153	1	1996												
133238		schizophrenia	PSYCH	PSY	DiGeorge Syndrome|Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Jacquet, H.  et al. 2002	12217952				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			CDC GDPinfo	5625	Hs.517352			Human molecular genetics. 2002 Sep;11(19):2243-9	PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.		606810	19093	2	2002	These observations demonstrate that type I hyperprolinemia is present in a subset of schizophrenic patients, and suggest that the genetic determinism of type I hyperprolinemia is complex, the severity of hyperprolinemia depending on the nature and number of hits affecting the PRODH locus.	Case:63 unrelated schizophrenic patients;Control:68:controls										
133232		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	20	20q11.2	PROCR	33222387	33228826		Grossmann, R.  et al. 2002	12413583				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			Thrombosis research. 2002 Jul;107(2-Jan):13-5	CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis.		600646	25464	2	2002	In conclusion, MTHFR TT677 does not appear to be an important risk factor for DVT, EPCR 403ins23 seems to be very rare, its role in the development of DVT unclear. A putative protective effect of CBS 844ins68 should be further investigated.	Case:300 consecutive deep vein thrombosis patients;Control:410 healthy blood donors										
133233		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Genetic Predisposition to Disease	20	20q11.2	PROCR	33222387	33228826		Grossmann, R.  et al. 2002	12439143				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			Blood coagulation & fibrinolysis. 2002 Oct;13(7):583-90	Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease		600646	27183	2	2002	In conclusion, in younger adults the FVL mutation is a risk factor for cerebrovascular disease. FIIM, the MTHFR TT677 genotype and the CBS 844ins68 mutation did not contribute to the risk in this group of patients. The EPCR 4031ins23 mutation is very rare, its possible role needs further investigation.	Control:186 healthy age-matched and sex-matched blood donors;Case:93 patients younger than 50 years old with thromboembolic strokes or transient ischemic:attacks										
133234		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	20	20q11.2	PROCR	33222387	33228826		French, J. K.  et al. 2003	12514663				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		600646	28184	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
133229	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	20	20q11.2	PROCR	33222387	33228826		Saposnik, B.  et al. 2003	14576048				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			Blood. 2004 Feb;103(4):1311-8	A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis.		600646	19091	2	2003	Thus, the A3 haplotype, which is associated with elevated plasma sEPCR levels, is a candidate risk factor for venous thrombosis.	Case:338 patients with venous thrombosis;Control:338 age- and sex-matched healthy subjects										
133230		thromboembolism, venous	CARDIOVASCULAR	CARD	Thrombosis|Venous Thrombosis	20	20q11.2	PROCR	33222387	33228826		Uitte De Willige, S.  et al. 2004	15304035				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			Journal of thrombosis and haemostasis. 2004 Aug;2(8):1305-10	Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis.		600646	19092	2	2004	 Our data do not suggest a strong association between EPCR haplotypes and thrombosis risk, but low sEPCR levels appear to reduce the risk of DVT.	Control:controls;Case deep venous thrombosis patients from the Leiden Thrombophilia Study										
133231		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Thrombosis|Venous Thrombosis	20	20q11.2	PROCR	33222387	33228826		Medina, P.  et al. 2005	16113830				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2005 Aug;94(2):389-94	Influence of the 4600A/G and 4678G/C polymorphisms in the endothelial protein C receptor (EPCR) gene on the risk of venous thromboembolism in carriers of factor V Leiden.		600646	23287	2	2005												
133226		thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	20	20q11.2	PROCR	33222387	33228826		Poort, S. R.  et al. 2002	12152660				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3	Dutch	Europe|Netherlands	CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2002 Jul;88(1):160-2	The endothelial protein C receptor (EPCR) 23 bp insert mutation and the risk of venous thrombosis.		600646	19088	2	2002	In conclusion, our data suggest that the presence of the 23 bp insert in the EPCR gene is not a common cause of venous thrombosis in the Dutch population and screening for the EPCR insertion allele in a first line panel for diagnosis of inherited thrombophilia is therefore not warranted.	Case:52/471 selected young patients with documented venous thrombosis (n=52) and patients with a first epidose of deep vein thrombosis (n=471);Control:64/471 healthy controls (n=64) and healthy controls of the:LETS (n=471)										
133227	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	20	20q11.2	PROCR	33222387	33228826		Galligan, L.  et al. 2002	12152662				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3	Irish	Ireland	CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2002 Jul;88(1):163-5	The G7763C endothelial protein C receptor (EPCR) gene mutation: prevalence and association with DVTin the Irish population.		600646	19089	2	2002	No statistically significant difference was detected in EPCR G5252C genotype frequencies between the DVT and control populations analysed in this study. Although APC levels in patients carrying the CC genotype were not measured, it may be concluded that there is, as yet, no evidence to suggest that the CC genotype is associated with decreased risk of DVT in the Irish population. However, it is possible that minor differences in genotype frequency between control and patient groups may only be demonstrable and reproducible using cohorts of several hundred patients. In addition, the G5252C polymorphism may act synergistically with additional genetic factors that determine the phenotype. It would therefore be interesting to investigate whether the CC genotype is directly linked to higher levels of EPCR expression on the endothelial surface.	Control:160 individuals with a negative personal and family:history;Case:184 patients with a history of deep vein thrombosis										
133228		thrombosis, deep vein	CARDIOVASCULAR	CARD	Thrombosis	20	20q11.2	PROCR	33222387	33228826		Akar, N.   2002	12529763				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3	Turkish	Turkey	CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2002 Dec;88(6):1068-9	Endothelial cell protein C receptor (EPCR) gene exon III, 23 bp insertion mutation in the Turkish pediatric thrombotic patients.		600646	19090	2	2002	Previous reports revealed a frequenc of 0-3.6% in different healthy and patient populations. AS the frequency of the insertion is very low in our population, it is difficult to assess its role on the pathogenesis of pediatric thrombosis. Further study including other possible mutations at the gene is needed for the evaluation of its possible effect on pediatric thrombosis.	Case:148 pediatric thrombosis patients;Control:160 healthy unrelated individuals without any family history of thrombosis and stroke										
133223		thromboembolism, venous; protein C	CARDIOVASCULAR	CARD	Thrombosis	20	20q11.2	PROCR	33222387	33228826		Medina, P.  et al. 2004	15116250				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3		Spain	CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2004 May;91(5):905-11	Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels, and thrombotic risk.		600646	13348	2	2004	These data indicate that individuals carrying the 4600AG genotype have high sEPCR levels but do not have an increased risk of thrombosis, whereas individuals carrying the 4678CC genotype have higher APC levels and lower risk of venous thromboembolism.	Control:401 healthy controls;Case:405 patients with venous thromboembolism:Spain										
133224		fetal loss, late	REPRODUCTION	REP	Abortion, Habitual|Fetal Death	20	20q11.2	PROCR	33222387	33228826		Franchi, F.  et al. 2001	11552992				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDPinfo	10544	Hs.356273			British journal of haematology. 2001 Sep;114(3):641-6	Mutations in the thrombomodulin and endothelial protein C receptor genes in women with late fetal loss.		600646	19086	2	2001	In conclusion, identified mutations in the TM and EPCR genes of women with unexplained fetal loss are more prevalent compared with women with no obstetrical complications.	Control:236 women who gave birth to at least one healthy baby and had no history of late fetal death or obstetrical complications;Case:95 women with unexplained late fetal loss (> 20 weeks)										
133225	N	thrombophilia, venous	HEMATOLOGICAL	HEM	Pulmonary Embolism|Intracranial Thrombosis|Retinal Vein Occlusion|Thromboembolism|Venous Thrombosis|Thrombophlebitis|Thrombophilia	20	20q11.2	PROCR	33222387	33228826		von Depka, M.  et al. 2001	11776299				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3		Germany	CDC GDPinfo	10544	Hs.356273			Thrombosis and haemostasis. 2001 Dec;86(6):1360-2	Prevalence of a 23bp insertion in exon 3 of the endothelial cell protein C receptor gene in venous thrombophilia.		600646	19087	2	2001	 Our findings showed that the EPCR 23bp insertion is very rare in both patients with VTE and the general population and failed to support an association between the EPCR 23bp insertion and an increased risk of VTE.	Control:500 healthy controls;Case:899 patients with documented VTE										
133220	Y	Hereditary protein C deficiency	OTHER	OTH	Thrombophlebitis|Protein C Deficiency	2	2q13-q14	PROC	127892486	127903288		Doig RG et al. 1994	7831652				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			KGB	5624	Hs.224698			Thrombosis and haemostasis. 1994 Aug;72(2):203-8	Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.		176860	5150	1	1994												
133221		thromboembolism, venous; protein C	CARDIOVASCULAR	CARD	Venous Thrombosis|Protein C Deficiency	2	2q13-q14	PROC	127892486	127903288		Tsay, W.  et al. 2004	15114590				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2	Chinese	Taiwan	CDC GDPinfo	5624	Hs.224698			American journal of hematology. 2004 May;76(1):13-Aug	R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese.		176860	19085	2	2004	This finding is important for screening thrombophilic families in Chinese populations. Am.	Control healthy controls;Case:21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed										
133222		thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	20	20q11.2	PROCR	33222387	33228826		Saposnik B 2004	14576048			haplotype	Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			KGB	10544	Hs.356273			Blood. 2004 Feb;103(4):1311-8	A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis.		600646	6668	1	2004	Thus, the A3 haplotype, which is associated with elevated plasma sEPCR levels, is a candidate risk factor for venous thrombosis.	Case:338 patients with venous thrombosis;Control:338 age- and sex-matched healthy subjects										
133216		Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Croes, E. A.  et al. 2004	14970845				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			European journal of human genetics. 2004 May;12(5):389-94	Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.		176640	23286	2	2004	The meta-analysis on the PRND T174M polymorphism did not show a consistent effect across studies, raising the question as to whether PRND 174M is causally related to CJD, or whether the PRND allele is in linkage disequilibrium with another polymorphism related to CJD.	Control:250:controls;Case:52 patients with sporadic Creutzfeldt-Jakob disease										
133218	Y	circulating protein C levels and thrombotic risk	OTHER	OTH	Thrombosis	2	2q13-q14	PROC	127892486	127903288		Aiach M et al. 1999	10364092			promoter	Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			KGB	5624	Hs.224698			Arteriosclerosis, thrombosis, and vascular biology. 1999 Jun;19(6):1573-6	Complex association of protein C gene promoter polymorphism with circulating protein C levels and thrombotic risk.		176860	5148	1	1999												
133219	Y	plasma protein C levels and thrombotic risk	METABOLIC	MET	Thrombosis	2	2q13-q14	PROC	127892486	127903288		Spek CA et al. 1995	7749828			promoter	Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			KGB	5624	Hs.224698			Arteriosclerosis, thrombosis, and vascular biology. 1995 Feb;15(2):214-8	Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk.		176860	5149	1	1995												
133213	Y	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234		Jeong, B. H.  et al. 2005	16217673				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Korean		CDC GDPinfo	5621	Hs.472010			Neurogenetics. 2005 Dec;6(4):229-32	Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.		176640	19084	2	2005												
133214	Y	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Van Everbroeck, B.  et al. 2001	11684342				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Neuroscience letters. 2001 Nov;313(2-Jan):69-72	Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype		176640	23284	2	2001	We found that methionine homozygosity of the PRNP129 increases the risk for developing CJD. PRNP129 also influenced the prion accumulation patterns in brain. The APOE 4 allele was an independent risk factor for developing CJD. We further observed a significant dose dependent APOE 4 effect on the number and type of amyloid-beta plaques in the brain of CJD patients.	Case:126 Creutzfeldt-Jakob disease patients;Control:79 age and sex matched control group										
133215		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Golanska, E.  et al. 2004	14745079				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Poland	CDC GDPinfo	5621	Hs.472010			Neurology. 2004 Jan;62(2):313-5	Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD.		176640	23285	2	2004	In AD patients, the percentage of Val/Val and Met/Met genotypes was higher than in the control subjects. A significant difference appeared also between early-onset (<70 years) and late-onset (> or = 70 years) AD patients in the PRND genotypes.	Control:107 healthy controls;Case:79 Polis patients with probable Alzheimer's disease										
133209		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Gossrau, G.  et al. 2005	15997418				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			J Neural Transm. 2006 Mar;113(3):331-7	Analysis of the polymorphic prion protein gene codon 129 in idiopathic Parkinson's disease.		176640	19080	2	2005												
133210		neuropathy, hereditary motor and sensory	NEUROLOGICAL	NEUR	Hereditary Motor and Sensory Neuropathies	20	20pter-p12	PRNP	4614796	4630234		Koop, O.  et al. 2005	16009550				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Neuromuscular disorders. 2005 Aug;15(8):549-51	Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.		176640	19081	2	2005	We conclude that  mutations in the protein coding region of the prion-protein gene are not a common cause of HMSN (95% CI 0-0.034).											
133212		Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker disease; insomnia, fatal familial	NEUROLOGICAL	NEUR	Prion Diseases	20	20pter-p12	PRNP	4614796	4630234		Kovacs, G. G.  et al. 2005	16187142				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Human genetics. 2005 Nov;118(2):166-74	Genetic prion disease: the EUROCJD experience.		176640	19083	2	2005												
133206		memory impairment	NEUROLOGICAL	NEUR		20	20pter-p12	PRNP	4614796	4630234		Rujescu, D.  et al. 2003	14593432				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Molecular psychiatry. 2003 Nov;8(11):937-41	M129V variation in the prion protein may influence cognitive performance.		176640	19077	2	2003	In summary, we deliver evidence for an association of a common genetic variation in the prion protein gene with cognitive performance. However, independent replications are needed before firm conclusions can be drawn.	Cohort 335 community-based healthy volunteers 										
133207	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Dementia|Disease Progression	20	20pter-p12	PRNP	4614796	4630234		Croes, E. A.  et al. 2004	15258222				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Journal of neurology, neurosurgery, and psychiatry. 2004 Aug;75(8):1166-70	Octapeptide repeat insertions in the prion protein gene and early onset dementia.		176640	19078	2	2004	 Our findings show significant inverse associations of the length of the PRNP octapeptide repeat with age at disease onset and disease duration in the spongiform encephalopathies.	Cohort 55 Alzheimer's disease patients identified as having PRNP octapeptide repeat insertions 										
133208		prion disease	NEUROLOGICAL	NEUR	Dementia|Prion Diseases|Ataxia	20	20pter-p12	PRNP	4614796	4630234		Sanchez-Valle, R.  et al. 2004	15469448				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Spain	CDC GDPinfo	5621	Hs.472010			European journal of neurology. 2004 Oct;11(10):649-55	Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.		176640	19079	2	2004	No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases.	Cohort 48 of 85 definite or probable human prion diseases cases that died between January 1993 and December 2002 Catalonia, Spain 										
133203	Y	encephalopathies, transmissible spongiform	NEUROLOGICAL	NEUR	Prion Diseases	20	20pter-p12	PRNP	4614796	4630234		Masullo, C.  et al. 2001	11220690				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Clinical neuropathology. 2001 Jan-Feb;20(1):19-25	Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies?		176640	19074	2	2001	 The results of this study confirm that the different polymorphism at codon 129 of the PRNP gene, which could be involved in the structural domains of human PrP, might modulate the pathological phenotype of TSE.	Case a group of familial spongiform transmissible encephalopathy cases;Control a large series of sporadic CJD cases										
133204	N	schizophrenia	PSYCH	PSY	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease|Schizophrenia	20	20pter-p12	PRNP	4614796	4630234		Tsai, M. T.  et al. 2001	11244488				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Taiwan	CDC GDPinfo	5621	Hs.472010			Molecular psychiatry. 2001 Jan;6(1):74-8	Lack of evidence to support the association of the human prion gene with schizophrenia		176640	19075	2	2001	our results suggest that the prion gene may not play a major role in conferring susceptibility to schizophrenia.	Control:100 non-psychotic controls;Case:234 schizophrenic patients										
133205		Jakob-Creutzfeldt disease	OTHER	OTH	Creutzfeldt-Jakob Syndrome|Iatrogenic Disease	20	20pter-p12	PRNP	4614796	4630234		Brandel, J. P.  et al. 2003	12867116				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	French	France|Great Britain	CDC GDPinfo	5621	Hs.472010			Lancet. 2003 Jul;362(9378):128-30	Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.		176640	19076	2	2003	An excess of VV homozygotes was noted among those with iatrogenic CJD compared with sporadic CJD cases. The proportion of MM genotype in UK patients was surprisingly low (4%) compared with that in French patients (62%). There is no evident explanation for this different distribution, which might be due to infection with different strains of prion in human growth hormone.	Cohort patients in France and in the UK with CJD transmitted iatrogenically by human growth hormone France/UK 										
133200		Alzheimer's Disease	NEUROLOGICAL	NEUR		20	20pter-p12	PRNP	4614796	4630234		Hardy, J.  et al. 2005	16287045				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):33-5	Prion genotypes in Central America suggest selection for the V129 allele.		176640	13346	2	2005												
133201		Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234			16324095				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			European journal of neurology. 2005 Dec;12(12):998-1001	Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data		176640	13347	2	2005												
133202		kuru	NEUROLOGICAL	NEUR	Kuru|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Lee, H. S.  et al. 2001	11120925				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		New Guinea	CDC GDPinfo	5621	Hs.472010			The Journal of infectious diseases. 2001 Jan;183(2):192-196	Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.		176640	19073	2	2001	These findings are relevant to the current outbreak of variant Creutzfeldt-Jakob disease (vCJD) in the United Kingdom, because all vCJD patients tested thus far have been M/M carriers.	Case:80 kuru patients;Control:95 unaffected controls										
133197	Y	Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR		20	20pter-p12	PRNP	4614796	4630234		Jeong, B. H.  et al. 2004	15148589				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Japanese		CDC GDPinfo	5621	Hs.472010			Journal of human genetics. 2004 ;49(6):319-24	Polymorphisms of the prion protein gene (PRNP) in a Korean population.		176640	13343	2	2004	The data of PRNP polymorphism at codon 219 suggest that Koreans may be more sensitive to sporadic CJD than the Japanese population.	Cohort 529 healthy Koreans 										
133198		Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234		Yu, S. L.  et al. 2004	15266305				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Chinese	China	CDC GDPinfo	5621	Hs.472010			European journal of human genetics. 2004 Oct;12(10):867-70	Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.		176640	13344	2	2004	frequencies of M/M homozygote at residue 129 in these three groups differ significantly. The Han has a much higher frequency (98%) than Hui (85%) and Uyghur (60%). On the other hand, the frequencies of the E/E at residue 219 are higher in Uyghur (98%) and Hui (96%) than in Han (90%).	Cohort 626 individuals representing three ethnic populations of China, Han, Hui, and Uyghur 										
133199		Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker disease; insomnia, fatal familial	NEUROLOGICAL	NEUR		20	20pter-p12	PRNP	4614796	4630234		Castro, R. M.  et al. 2004	15488240				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Journal of neuroscience methods. 2004 Oct;139(2):263-9	High capacity and low cost detection of prion protein gene variant alleles by denaturing HPLC.		176640	13345	2	2004	Therefore, the present study shows that DHPLC is a rapid, highly accurate and efficient technique for the detection of PRNP genetic variants.	Cohort 562 samples 										
133194	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20pter-p12	PRNP	4614796	4630234		Infante, J.  et al. 2002	12399017	codons 174			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Spanish	Spain	CDC GDPinfo	5621	Hs.472010			Neuroscience letters. 2002 Nov;332(3):213-5	Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease		176640	13340	2	2002	The current study does not demonstrate any significant difference in T174M PRND genotype or allele frequencies between AD patients and controls. Our study in the Spanish population argues against the hypothesis that the PRND gene is causally related to AD.	Case:283 sporadic Alzheimer's disease patients:Spain;Control:288 control subjects										
133195	N	insomnia	OTHER	OTH	Creutzfeldt-Jakob Syndrome|Sleep Initiation and Maintenance Disorders	20	20pter-p12	PRNP	4614796	4630234		Pedrazzoli, M.  et al. 2002	12464104				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Journal of sleep research. 2002 Dec;11(4):357-8	Effect of the prion 129 polymorphism on nocturnal sleep and insomnia complaints: a population-basedstudy.		176640	13341	2	2002	The results obtained in the present study show that the PrP 129 polymorphism has no effect on insomnia symptoms or nocturnal sleep in the general population. Most importantly, we could not corroborate the preliminary finding of Plazzi et al. (2001) suggesting that 129 PrP polymorphism affect sleep in healthy subjects.	Cohort 884 middle-aged men and women 										
133191	Y	diverse clinicopathologic phenotypes	OTHER	OTH	Prion Diseases	20	20pter-p12	PRNP	4614796	4630234		McLean CA et al. 1997	9270595				prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Australia|Ireland	KGB	5621	Hs.472010			Neurology. 1997 Aug;49(2):552-8	The D178N (cis-129M) fatal familial insomnia mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.		176640	5146	1	1997												
133192		Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234		Bratosiewicz, J.  et al. 2001	11584448	Codon 129			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Polish	Poland	CDC GDPinfo	5621	Hs.472010			Acta neurobiologiae experimentalis. 2001 ;61(3):151-6	Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.		176640	13338	2	2001	The distribution of the genotype was 45% Met/Met, 39% Met/Val, and 16% Val/Val in the control group whereas, of the CJD cases, 73.3% were homozygous for methionine, 13.3% homozygous for valine and 13.3% were heterozygous.	Control:109 individuals representing the normal Polish:population;Case:15 Creutzfeldt-Jakob disease patients:Poland										
133193		Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Erginel-Unaltuna, N.  et al. 2001	11840201				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Turkish	Turkey	CDC GDPinfo	5621	Hs.472010			European journal of human genetics. 2001 Dec;9(12):965-8	Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.		176640	13339	2	2001	The higher frequency of 129 Met-homozygotes in Turkey than in Western Europe suggests that the Turkish are at greater risk of developing CJD.	Cohort 100 healthy Turkish subjects 										
133188		Prion susceptibility	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Insomnia, Fatal Familial|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Soldevila M 2003	12815603				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Africa|Africa South of the Sahara|Central America|North America|South America|Asia|Asia, Central|Europe|Pacific Islands	KGB	5621	Hs.472010			Human mutation. 2003 Jul;22(1):104-5	Prion susceptibility and protective alleles exhibit marked geographic differences.		176640	5143	1	2003												
133189		CJD	OTHER	OTH	Creutzfeldt-Jakob Syndrome|Iatrogenic Disease	20	20pter-p12	PRNP	4614796	4630234		Brandel JP 2003	12867116	codon 129			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		France|Great Britain	KGB	5621	Hs.472010			Lancet. 2003 Jul;362(9378):128-30	Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.		176640	5144	1	2003	An excess of VV homozygotes was noted among those with iatrogenic CJD compared with sporadic CJD cases. The proportion of MM genotype in UK patients was surprisingly low (4%) compared with that in French patients (62%). There is no evident explanation for this different distribution, which might be due to infection with different strains of prion in human growth hormone.	Cohort patients in France and in the UK with CJD transmitted iatrogenically by human growth hormone France/UK										
133190	Y	human long-term memory	CANCER	CAN		20	20pter-p12	PRNP	4614796	4630234		Papassotiropoulos A, Hum Mol Genet. 2005 Aug 1;14(	15987701	The methionine to valine substitution at codon 129 of PRNP (M129V) is caused by a common A to G transition (rs1799990)	In vitro experiments suggest that the 129M allele results in a higher propensity of the prion protein to form beta-sheet-rich oligomers	coding sequence	Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Swiss		KGB	5621	Hs.472010	Twenty-four hours after a word list-learning task, carriers of either the 129(MM) or the 129(MV) genotype recalled 17% more information than 129(VV) carriers		Human molecular genetics. 2005 Aug;14(15):2241-6	The prion gene is associated with human long-term memory.		176640	5145	1	2005		Case:354										
133184		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20pter-p12	PRNP	4614796	4630234		Ohkubo T 2003	14520676				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Japan	KGB	5621	Hs.472010			Annals of neurology. 2003 Oct;54(4):553-4; author reply 555	Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan.		176640	5139	1	2003												
133187	Y	Early cognitive decline	AGING	AGE	Cognition Disorders	20	20pter-p12	PRNP	4614796	4630234		Masaki T 2003	12891686	codon 129			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			Annals of neurology. 2003 Aug;54(2):275-6	Early cognitive decline is associated with prion protein codon 129 polymorphism.		176640	5142	1	2003												
133180	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234	n	Combarros O et al. 2000	10953203				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Spain	KGB	5621	Hs.472010			Neurology. 2000 Aug;55(4):593-5	Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD.		176640	5135	1	2000												
133182	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20pter-p12	PRNP	4614796	4630234	n	Infante J et al. 2002	12399017				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Spain	KGB	5621	Hs.472010			Neuroscience letters. 2002 Nov;332(3):213-5	Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease.		176640	5137	1	2002	The current study does not demonstrate any significant difference in T174M PRND genotype or allele frequencies between AD patients and controls. Our study in the Spanish population argues against the hypothesis that the PRND gene is causally related to AD.	Case:283 sporadic Alzheimer's disease patients:Spain;Control:288 control subjects										
133183		in vitro fertilization.	REPRODUCTION	REP		20	20pter-p12	PRNP	4614796	4630234		Cramer DW 2003	14586360				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010	implantation failure		American journal of obstetrics and gynecology. 2003 Oct;189(4):1085-92	Human progesterone receptor polymorphisms and implantation failure during in vitro fertilization.		176640	5138	1	2003	 Although human progesterone receptor polymorphisms do not clearly affect the risk for implantation failure in most women who undergo in vitro fertilization, the likelihood that a woman carries the +331G/A human progesterone receptor polymorphism increases with the number of failed attempts at implantation.											
133176	N	CJD	OTHER	OTH	Creutzfeldt-Jakob Syndrome|Gerstmann-Straussler-Scheinker Disease	20	20pter-p12	PRNP	4614796	4630234	n	Palmer MS et al. 1993	8100163				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			Human molecular genetics. 1993 May;2(5):541-4	Deletions in the prion protein gene are not associated with CJD.		176640	5131	1	1993												
133177	Y	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Memory Disorders|Head Injuries, Closed	20	20pter-p12	PRNP	4614796	4630234		Capellari S et al. 2002	12451210				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			Neurology. 2002 Nov;59(10):1628-30	Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.		176640	5132	1	2002												
133178	Y	Inherited Creutzfeldt-Jakob disease	OTHER	OTH	Huntington Disease|Creutzfeldt-Jakob Syndrome|Prion Diseases	20	20pter-p12	PRNP	4614796	4630234		Nicholl D et al. 1995	7823070				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			Journal of neurology, neurosurgery, and psychiatry. 1995 Jan;58(1):65-9	Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.		176640	5133	1	1995												
133173	Y	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRND	4650555	4657106		Jeong, B. H.  et al. 2005	15986038			3' UTR	Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2		Korea	CDC GDPinfo	23627	Hs.406696			European journal of human genetics. 2005 Sep;13(9):1094-7	Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease.		604263	13337	2	2005												
133174	N	Schizophrenia	PSYCH	PSY	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease|Schizophrenia	20	20pter-p12	PRNP	4614796	4630234	n	Tsai MT 2001	11244488	Methionine/ valine at codon 129 (M129V) and glutamate/ lysine at codon 219 (E219K)			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Han Chinese	Taiwan	KGB	5621	Hs.472010			Molecular psychiatry. 2001 Jan;6(1):74-8	Lack of evidence to support the association of the human prion gene with schizophrenia		176640	5129	1	2001	our results suggest that the prion gene may not play a major role in conferring susceptibility to schizophrenia.	Control:100 non-psychotic controls;Case:234 schizophrenic patients										
133175	Y	cerebral aging	AGING	AGE		20	20pter-p12	PRNP	4614796	4630234		Berr 2003	12679875		Val allele codon 129 of PRNP linked to the presence and density of A beta -associated lesions	coding sequence	Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	over 70 non-dememtia		KGB	5621	Hs.472010			Acta neuropathologica. 2003 Jul;106(1):71-4	Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.		176640	5130	1	2003	Val allele carriers also had more focal and diffuse Abeta deposits. This association was most significant in the highest Braak's stages for neurofibrillary tangles (>/=III). In this group, cases with at least one Val allele had nearly twice as many Abeta-associated lesions. The most affected areas were the entorhinal cortex, TF-TH and the superior temporal cortex, where odds ratios for focal Abeta deposits ranged from 3.5 to 4.6.	Cohort 188 patients over 70 years of age without evidence of dementia										
133170		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20pter-p12	PRND	4650555	4657106		Golanska, E.  et al. 2004	14745079				Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2		Poland	CDC GDPinfo	23627	Hs.406696			Neurology. 2004 Jan;62(2):313-5	Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD.		604263	13334	2	2004	In AD patients, the percentage of Val/Val and Met/Met genotypes was higher than in the control subjects. A significant difference appeared also between early-onset (<70 years) and late-onset (> or = 70 years) AD patients in the PRND genotypes.	Control:107 healthy controls;Case:79 Polis patients with probable Alzheimer's disease										
133171		Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRND	4650555	4657106		Croes, E. A.  et al. 2004	14970845				Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2			CDC GDPinfo	23627	Hs.406696			European journal of human genetics. 2004 May;12(5):389-94	Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.		604263	13335	2	2004	The meta-analysis on the PRND T174M polymorphism did not show a consistent effect across studies, raising the question as to whether PRND 174M is causally related to CJD, or whether the PRND allele is in linkage disequilibrium with another polymorphism related to CJD.	Control:250:controls;Case:52 patients with sporadic Creutzfeldt-Jakob disease										
133172	N	Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRND	4650555	4657106		Jeong, B. H.  et al. 2005	15933804	codons 56 and 174			Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2	Asian	Korea	CDC GDPinfo	23627	Hs.406696			Journal of human genetics. 2005 ;50(6):311-4	Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease.		604263	13336	2	2005	In contrast to results in the German population, our study did not show a significant difference in PRND genotype or allele frequency at codon 174 between sporadic CJD and normal controls. This was the first genetic association study of the ORF of PRND in an Asian CJD population.	Control:102 healthy Koreans;Case:110 sporadic Creutzfeldt-Jakob disease cases:Korea										
133167		infertility, male	REPRODUCTION	REP	Infertility, Male	16	16p13.2	PRM1	11282193	11282693		Tanaka, H.  et al. 2003	12569175				Protamine 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002761.1			CDC GDPinfo	5619	Hs.2909			Molecular human reproduction. 2003 Feb;9(2):69-73	Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations.		182880	13332	2	2003	Although the PRM1 and PRM2 genes are highly conserved, the single SNP in the PRM2 gene that induces translation termination may result in male infertility due to haploinsufficiency of PRM2.	Case:226 sterile male patients;Control:270 proven-fertile male volunteers										
133168		infertility, male	REPRODUCTION	REP	Infertility, Male	16	16p13.2	PRM2	11276993	11277838		Tanaka, H.  et al. 2003	12569175				Protamine 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM908145			CDC GDPinfo	5620	Hs.2324			Molecular human reproduction. 2003 Feb;9(2):69-73	Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations.		182890	23283	2	2003	Although the PRM1 and PRM2 genes are highly conserved, the single SNP in the PRM2 gene that induces translation termination may result in male infertility due to haploinsufficiency of PRM2.	Case:226 sterile male patients;Control:270 proven-fertile male volunteers										
133169		encephalopathies, transmissible spongiform	NEUROLOGICAL	NEUR	Nervous System Diseases|Alzheimer Disease|Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRND	4650555	4657106		Schroder, B.  et al. 2001	11702213				Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2			CDC GDPinfo	23627	Hs.406696			Human genetics. 2001 Sep;109(3):319-25	Polymorphisms within the prion-like protein gene (Prnd) and their implications in human prion diseases, Alzheimer's disease and other neurological disorders		604263	13333	2	2001	Statistical analysis revealed a significant difference in the distribution of the Prnd genotype at codon 174 between sporadic CJD patients and healthy controls.	Control:111 controls not otherwise specified in abstract;Case:58 patients who had died of genetic or sporadic Creutzfeldt-Jakob disease (CJD), Alzheimer's disease or other neurological disorders										
133163		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Saito, T.  et al. 2004	15063762				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2		Japan	CDC GDPinfo	5617	Hs.1905			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		176760	28598	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
133164		systemic lupus erythematosus	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	5	5p14-p13	PRLR	35084617	35266334		Mellai M 2003	12559630				Prolactin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000949.2		Italy	Y Wang	5618	Hs.368587			Human immunology. 2003 Feb;64(2):274-84	Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus.		176761	5128	1	2003	No statistically significant difference in the allele distribution was observed for any of the tested variations.	Case multiple sclerosis and systemic lupus erythematosus:patients;Control:controls										
133166		multiple sclerosis; lupus erythematosus	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	5	5p14-p13	PRLR	35084617	35266334		Mellai, M.  et al. 2003	12559630				Prolactin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000949.2		Italy	CDC GDPinfo	5618	Hs.368587			Human immunology. 2003 Feb;64(2):274-84	Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus		176761	23282	2	2003	No statistically significant difference in the allele distribution was observed for any of the tested variations.	Case multiple sclerosis and systemic lupus erythematosus:patients;Control:controls										
133159		systemic lupus erythematosus; prolactin, lymphocyte	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Stevens, A.  et al. 2001	11721693				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			CDC GDPinfo	5617	Hs.1905			Lupus. 2001 ;10(10):676-83	Polymorphisms of the human prolactin gene--implications for production of lymphocyte prolactin and systemic lupus erythematosus.		176760	13327	2	2001	One SNP in the lymphocyte specific upstream promoter affects prolactin transcription and disease association studies in a cohort of SLE cases demonstrated an increased frequency of the PRL-1149 G allele compared to control subjects. This indicates a possible mechanism for the association of prolactin with SLE. Although prolactin is likely to be one of several predisposing factors in the pathogenesis and progression of SLE, this suggests that manipulation of lymphocyte prolactin production (rather than pituitary production) might be a useful therapeutic approach.	Case systemic lupus erythematosus cases;Control controls not otherwise specified in abstract										
133161		lymphoma; non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	6	6p22.2-p21.3	PRL	22395458	22411061		Skibola, C. F.  et al. 2005	16214922				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2		San Francisco	CDC GDPinfo	5617	Hs.1905			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2391-401	Polymorphisms and haplotypes in the cytochrome P450 17A1, prolactin, and catechol-O-methyltransferase genes and non-Hodgkin lymphoma risk.		176760	25463	2	2005												
133162		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Donn, R. P.  et al. 2002	12154211				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2		Great Britain	CDC GDPinfo	5617	Hs.1905			Rheumatology (Oxford, England). 2002 Aug;41(8):930-6	Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis.		176760	26519	2	2002	 The lack of association with polymorphisms of these neuroendocrine genes suggests that they are not involved in susceptibility to JIA.	Control:276 unrelated, healthy UK Caucasian controls;Case:463 clinically characterized UK Caucasian JIA patients										
133156		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Stevens A 2001	11721693				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			Y Wang	5617	Hs.1905			Lupus. 2001 ;10(10):676-83	Polymorphisms of the human prolactin gene--implications for production of lymphocyte prolactin and systemic lupus erythematosus.		176760	5126	1	2001	One SNP in the lymphocyte specific upstream promoter affects prolactin transcription and disease association studies in a cohort of SLE cases demonstrated an increased frequency of the PRL-1149 G allele compared to control subjects. This indicates a possible mechanism for the association of prolactin with SLE. Although prolactin is likely to be one of several predisposing factors in the pathogenesis and progression of SLE, this suggests that manipulation of lymphocyte prolactin production (rather than pituitary production) might be a useful therapeutic approach.	Case systemic lupus erythematosus cases;Control controls not otherwise specified in abstract										
133157		systemic lupus erythematosus	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Mellai M 2003	12559630				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2		Italy	Y Wang	5617	Hs.1905			Human immunology. 2003 Feb;64(2):274-84	Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus.		176760	5127	1	2003	No statistically significant difference in the allele distribution was observed for any of the tested variations.	Case multiple sclerosis and systemic lupus erythematosus:patients;Control:controls										
133158		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p22.2-p21.3	PRL	22395458	22411061		Stevens, A.  et al. 2001	11665977				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			CDC GDPinfo	5617	Hs.1905			Arthritis and rheumatism. 2001 Oct;44(10):2358-66	Characterization of a prolactin gene polymorphism and its associations with systemic lupus erythematosus.		176760	13326	2	2001	 We found a functionally significant polymorphism that alters prolactin promoter activity and mRNA levels in the lymphocytes. Altered local prolactin production by immune cells may contribute to disease progression by affecting T cell function.	Case SLE patients;Control not specified in abstract										
133153		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	8	8q11	PRKDC	48848221	49035296		Fu, Y. P.  et al. 2003	12750264				Protein kinase, DNA-activated, catalytic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006904.6			CDC GDPinfo	5591	Hs.491682			Cancer research. 2003 May;63(10):2440-6	Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.		600899	23281	2	2003	Based on comprehensive NHEJ gene profiles, this study provides new insights to suggest the role of the NHEJ pathway in breast cancer development and supports the possibility that breast cancer is initiated by estrogen exposure, which causes DNA DSBs.	Control:379 healthy controls;Case:254 primary breast cancer patients										
133154	N	obesity	METABOLIC	MET	Obesity	10	10q11.2	PRKG1	52421123	53725280		Zakharkin, S. O.  et al. 2005	15917860				Protein kinase, cGMP-dependent, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006258.1			CDC GDPinfo	5592	Hs.584791			International journal of obesity (2005). 2005 Jul;29(7):872-4	Lack of association between polymorphism of the human cyclic GMP-dependent protein kinase gene and obesity.		176894	13325	2	2005	 We found no evidence that the C2276T polymorphism in the PKRG1 gene is associated with obesity.	Cohort 143 individuals New York City, US 										
133155		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p22.2-p21.3	PRL	22395458	22411061		Stevens A 2001	11665977				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			Y Wang	5617	Hs.1905			Arthritis and rheumatism. 2001 Oct;44(10):2358-66	Characterization of a prolactin gene polymorphism and its associations with systemic lupus erythematosus.		176760	5125	1	2001	 We found a functionally significant polymorphism that alters prolactin promoter activity and mRNA levels in the lymphocytes. Altered local prolactin production by immune cells may contribute to disease progression by affecting T cell function.	Case SLE patients;Control not specified in abstract										
133150	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Sun, H. X.  et al. 2002	12905768				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4	Chinese		CDC GDPinfo	5590	Hs.496255			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Oct;24(5):474-80	[Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene]		176982	13322	2	2002	 The haplotype formed by 5 SNPs in the PRKCZ gene may be associated with type 2 diabetes in Han population of China, which is confirmed from statistics to be a susceptibility gene for the disease.	Control:152 normal individuals;Case:173 Han Chinese sporadic type 2 diabetes patients:China										
133151	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Sun, H. X.  et al. 2002	12905622				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4	Chinese		CDC GDPinfo	5590	Hs.496255			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):223-7	[The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China]		176982	14693	2	2002	 The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.	Control:172 normal individuals;Case:192 sporadic type 2 diabetics										
133152		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	8	8q11	PRKDC	48848221	49035296		Wang, L. E.  et al. 2004	15313891				Protein kinase, DNA-activated, catalytic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006904.6			CDC GDPinfo	5591	Hs.491682			Cancer research. 2004 Aug;64(16):5560-3	Polymorphisms of DNA repair genes and risk of glioma.		600899	13324	2	2004	These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.	Case:309 patients with newly diagnosed glioma;Control:342 cancer-free control participants matched on age										
133147		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Sun HX 2002	12905622				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4	Chinese		Y Wang	5590	Hs.496255			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):223-7	The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China		176982	5122	1	2002	 The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.	Control:172 normal individuals;Case:192 sporadic type 2 diabetics										
133148		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Sun HX 2002	12905767				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4			Y Wang	5590	Hs.496255			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Oct;24(5):471-3	Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene		176982	5123	1	2002	 The PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene.											
133149	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Sun HX 2002	12905768				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4			Y Wang	5590	Hs.496255			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Oct;24(5):474-80	Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene		176982	5124	1	2002	 The haplotype formed by 5 SNPs in the PRKCZ gene may be associated with type 2 diabetes in Han population of China, which is confirmed from statistics to be a susceptibility gene for the disease.	Control:152 normal individuals;Case:173 Han Chinese sporadic type 2 diabetes patients:China										
133142		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	16	16p11.2	PRKCB1	23754822	24139431		Ikeda, Y.  et al. 2004	15384959				Protein kinase C, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_212535.1	Japanese	Japan	CDC GDPinfo	5579	Hs.460355			Diabetic medicine. 2004 Oct;21(10):1113-20	Polymorphisms in the 5'-upstream region of the PKCbeta gene in Japanese patients with Type 2 diabetes.		176970	13321	2	2004	 The C(-238)G and C(-287)T-A(-348)G polymorphisms in the 5'-upstream region of the PKCbeta gene may have an effect on the susceptibility of diabetic vascular complications through an alteration of tissue PKCbeta density or function.	Control:160 healthy controls;Case:204 type 2 diabetic patients										
133143	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p11.2	PRKCB1	23754822	24139431		Araki, S.  et al. 2003	12874455				Protein kinase C, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_212535.1			CDC GDPinfo	5579	Hs.460355			Journal of the American Society of Nephrology. 2003 Aug;14(8):2015-24	Identification of a common risk haplotype for diabetic nephropathy at the protein kinase C-beta1 (PRKCB1) gene locus.		176970	19069	2	2003	Among individuals with diabetes mellitus duration of >/==" BORDER="0">24 yr, these two SNP were not associated with diabetic nephropathy. These positive findings were confirmed by using the family-based transmission disequilibrium test. The T-G haplotype, with both risk alleles, was transmitted more frequently than expected from heterozygous parents to offspring who developed diabetic nephropathy during the first 24 yr of diabetes mellitus. It is concluded that DNA sequence differences in the promoter of PRKCB1 contribute to diabetic nephropathy susceptibility in type I diabetes mellitus.	Case type 2 diabetic patients with diabetic nephropathy;Control type 2 diabetic patients without diabetic:nephropathy										
133144	Y	spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	19	19q13.4	PRKCG	59077278	59102713		Klebe, S.  et al. 2005	16193476				Protein kinase C, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002739.3			CDC GDPinfo	5582	Hs.631564			Annals of neurology. 2005 Nov;58(5):720-9	New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.		176980	19070	2	2005												
133138		cholesterol; triglycerides; glucose tolerance; beta-cell function; insulin; lipids	METABOLIC	MET	Insulin Resistance	7	7q35-q36	PRKAG2	150884133	151205249		Xu, M.  et al. 2005	16115789				Protein kinase, AMP-activated, gamma 2 non-catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR933725	Chinese	China	CDC GDPinfo	51422	Hs.549162			Molecular genetics and metabolism. 2005 Nov;86(3):372-8	Glucose and lipid metabolism in relation to novel polymorphisms in the 5'-AMP-activated protein kinase gamma2 gene in Chinese.		602743	13319	2	2005												
133140	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q22-q23.2	PRKCA	61729387	62237324		Barton, A.  et al. 2004	15155525				Protein kinase C, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002737.2		Great Britain	CDC GDPinfo	5578	Hs.531704			Brain. 2004 Aug;127(Pt 8):1717-22	Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population		176960	19068	2	2004	Our results suggest that the promoter and proximal gene region should be not only included but prioritized in any screening strategy.	Case:184 urelated multiple sclerosis cases:UK;Control:340 healthy controls										
133141		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	PRKCABP	36783207	36801654		Hong, C. J.  et al. 2004	15305146	rs3952			Protein kinase C, alpha binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092818			CDC GDPinfo	9463	Hs.180871			Neuroreport. 2004 Aug;15(12):1965-7	Association study of PICK1 rs3952 polymorphism and schizophrenia.		605926	13320	2	2004	The positive association suggests that the PICK1 gene may play a role in the pathogenesis of schizophrenia.	Case:225 schizophrenic cases;Control:260:controls										
133135		hearing loss	OTHER	OTH	Hearing Loss	7	7q22.1	SLC26A5	102780412	102873834		Tang, H. Y.  et al. 2005	16086836				solute carrier family 26, member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198999.1			CDC GDPinfo	375611	Hs.585146			BMC medical genetics [electronic resource]. 2005 Aug;6:30	High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.		604943	19494	2	2005	 These data suggest that the IVS2-2A>G variant may not occur more frequently in hearing impaired subjects than in controls. The identification of five potential alternative splice acceptor sites in intron 2 of human SLC26A5 suggests a potential mechanism by which expression of prestin might be maintained in cells carrying the SLC26A5 IVS2-2A>G DNA sequence variation. Additional studies are needed to evaluate the effect of the IVS2-2A>G transition on splicing of SLC26A5 transcripts and characterize the hearing status of individuals homozygous for the IVS2-2A>G variant.											
133136	Y	HTLV-1 infection	INFECTION	INF	HTLV-I Infections	10	10q22	PRF1	72027109	72032520		Rafatpanah, H.  et al. 2004	15336785				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3		Iran	CDC GDPinfo	5551	Hs.2200			Human immunology. 2004 Aug;65(8):839-46	Association of a novel single nucleotide polymorphism in the human perforin gene with the outcome of HTLV-I infection in patients from Northeast Iran (Mash-had)		170280	13318	2	2004	Our results suggest that the perforin +418*C/T polymorphism is associated with the outcome of HTLV-I infection.	Case HTLV-1-associated myelopathy/tropical spastic paraparesis patients;Control healthy controls										
133137	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.1	PRKAB2	145093308	145110753		Prochazka, M.  et al. 2002	12490143				Protein kinase, AMP-activated, beta 2 non-catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005399.3	Pima Indian	Arizona	CDC GDPinfo	5565	Hs.50732			Molecular and cellular probes. 2002 Dec;16(6):421-7	Variant screening of PRKAB2, a type 2 diabetes mellitus susceptibility candidate gene on 1q in Pima Indians.		602741	19067	2	2002	We conclude that  variants in PRKAB2 are unlikely to contribute to the disease susceptibility in Pima Indians.	Case:149 type 2 diabetic Pima Indians;Control:150 controls (at least 45 years old, with normal glucose tolerance)										
133132	Y	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21.3	PPP3CC	22354540	22454582		Gerber DJ 2003	12851458				Protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005605.3			KGB	5533	Hs.149413			Proceedings of the National Academy of Sciences of the United States of America. 2003 Jul;100(15):8993-8	Evidence for association of schizophrenia with genetic variation in the 8p21.3 gene, PPP3CC, encoding the calcineurin gamma subunit.		114107	5119	1	2003												
133133	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21.3	PPP3CC	22354540	22454582		Kinoshita, Y.  et al. 2005	15843870				Protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005605.3	Japanese		CDC GDPinfo	5533	Hs.149413			J Neural Transm. 2005 Sep;112(9):1255-62	No association with the calcineurin A gamma subunit gene (PPP3CC) haplotype to Japanese schizophrenia.		114107	19065	2	2005	Our result suggests that PPP3CC may not play a major role in Japanese schizophrenia.	Control:429:controls;Case:457 Japanese schizophrenic cases										
133134		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	2	2p15	PPP3R1	68259492	68333155		Tang, W.  et al. 2005	16209992			promoter	Protein phosphatase 3 (formerly 2B), regulatory subunit B, 19kDa, alpha isoform (calcineurin B, type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000945.3			CDC GDPinfo	5534	Hs.280604			American heart journal. 2005 Oct;150(4):845-51	Identification of a novel 5-base pair deletion in calcineurin B (PPP3R1) promoter region and its association with left ventricular hypertrophy.		601302	19066	2	2005	 The 5-base pair deletion within the CnB gene may cause excessive LV growth beyond the level appropriate for cardiac workload when exposed to severe hypertension or may be in linkage disequilibrium with the causal mutation.											
133129		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q31.1	PPP1R3A	113301621	113346300		Hegele, R. A.  et al. 2001	11512679				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	5506	Hs.458309			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		600917	27603	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
133130		breast cancer	CANCER	CAN	Breast Neoplasms|Lung Neoplasms	11	11q23.2	PPP2R1B	111102841	111142379		Esplin, E. D.  et al. 2005	16276521				Protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002716.3			CDC GDPinfo	5519	Hs.584790			Genes, chromosomes & cancer. 2006 Feb;45(2):182-90	The glycine 90 to aspartate alteration in the Abeta subunit of PP2A (PPP2R1B) associates with breast cancer and causes a deficit in protein function.		603113	19064	2	2005												
133131		schizophrenia	PSYCH	PSY	Spinocerebellar Ataxias|Schizophrenia	5	5q31-5q32	PPP2R2B	145949260	146441207		Laurent, C.  et al. 2003	12497613				Protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004576.2			CDC GDPinfo	5521	Hs.193825			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):45-50	CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia.		604325	23280	2	2003	In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population.	Case:67/101 67 familial cases with a first-degree SZ relative, 101 sporadic cases with no affected first- or second-degree relative;Control:90:controls										
133126		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Liver Neoplasms|Lymphatic Metastasis|Disease Progression	7	7q31.1	PPP1R3A	113301621	113346300		Hayashida, Y.  et al. 2005	15870946				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2			CDC GDPinfo	5506	Hs.458309			Oncology reports. 2005 Jun;13(6):1223-7	PPP1R3 gene (protein phosphatase 1) alterations in colorectal cancer and its relationship to metastasis.		600917	19063	2	2005												
133127		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Insulin Resistance	7	7q31.1	PPP1R3A	113301621	113346300		Liolitsa, D.  et al. 2002	12185156				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2			CDC GDPinfo	5506	Hs.458309			Journal of neurology, neurosurgery, and psychiatry. 2002 Sep;73(3):261-6	Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease		600917	25462	2	2002	 The results support the hypothesis for a common genetic aetiology predisposing to insulin resistance and AD.	Control age-matched normal subjects;Case:202 patients with late onset AD										
133128		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	7	7q31.1	PPP1R3A	113301621	113346300		Pollex, R. L.  et al. 2005	16276364				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Canadian		CDC GDPinfo	5506	Hs.458309			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		600917	27182	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
133123	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q31.1	PPP1R3A	113301621	113346300		Chen, M.  et al. 2004	14767904	5 bp deletion/insertion			Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Chinese		CDC GDPinfo	5506	Hs.458309			Zhonghua yi xue yi chuan xue za zhi. 2004 Feb;21(1):29-31	[Study on association of PPP1R3 gene 5 bp deletion/insertion within 3'-untranslated region polymorphism with type 2 diabetes]		600917	13314	2	2004	 The PPP1R3 gene 5 bp D/I within 3'-UTR polymorphism taking on genetic variation among the different races of mankind may not play a critical role in the development of type 2 diabetes mellitus in Chinese Hans of Hefei region in Anhui province.	Control:106 normal controls;Case:268 Chinese Han patients with type 2 diabetes Hefei region of Anhui province										
133124	Y	polycystic ovary syndrome; diabetes	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	7	7q31.1	PPP1R3A	113301621	113346300		Alcoser, S. Y.  et al. 2004	15181086				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2			CDC GDPinfo	5506	Hs.458309			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2973-6	Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome.		600917	13315	2	2004	Studies of diabetic and nondiabetic PCOS women of other racial and ethnic backgrounds will be necessary to assess the impact of this and other variants in PPP1R3 upon the phenotype and natural history of women with PCOS.	Cohort 186 women with polycystic ovary syndrome 										
133125		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	7	7q31.1	PPP1R3A	113301621	113346300		Chen, M. W.  et al. 2004	15231141				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Chinese	China	CDC GDPinfo	5506	Hs.458309			Zhonghua liu xing bing xue za zhi. 2004 Jun;25(6):534-6	[Study on the association of PPP1R3 gene polymorphism with type 2 diabetes in Han population of Anhui province]		600917	13316	2	2004	 PPP1R3 gene Asp905Tyr polymorphism did not seem to play a critical role in the development of type 2 diabetes mellitus in Han population of Chinese in Anhui province but interaction between the Asp905 and BMI cause the increase of risk of type 2 diabetes.	Control:104 normal controls;Case:262 type 2 diabetic cases										
133119	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7q31.1	PPP1R3	113301621	113346300		Xia J et al. 1998	9726244				protein phosphatase 1, regulatory (inhibitor) subunit 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711		Arizona	KGB	5506	Hs.458309			Diabetes. 1998 Sep;47(9):1519-24	A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes.		600917	5116	1	1998												
133120	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q31.1	PPP1R3	113301621	113346300		Wang G et al. 2001	11793847				protein phosphatase 1, regulatory (inhibitor) subunit 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711			KGB	5506	Hs.458309			Chinese medical journal. 2001 Dec;114(12):1258-62	The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.		600917	5117	1	2001	 A joint effect between the Asp905 and BMI increases the risk of type 2 diabetes, and Asp905Tyr and ARE polymorphism of PPP1R3 gene are not the major diabetogenic gene variants in Chinese population.		body mass									
133122	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q31.1	PPP1R3A	113301621	113346300		Wang, G.  et al. 2001	11793847				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Chinese		CDC GDPinfo	5506	Hs.458309			Chinese medical journal. 2001 Dec;114(12):1258-62	The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus.		600917	13313	2	2001	 A joint effect between the Asp905 and BMI increases the risk of type 2 diabetes, and Asp905Tyr and ARE polymorphism of PPP1R3 gene are not the major diabetogenic gene variants in Chinese population.	Case:101 type 2 diabetic patients;Control:101 controls not otherwise specified in abstract	body mass									
133116		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q31.1	PPP1R3A	113301621	113346300		Maegawa H 1999	10389856				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Japanese	Japan	Y Wang	5506	Hs.458309			Diabetes. 1999 Jul;48(7):1469-72	The 3'-untranslated region polymorphism of the gene for skeletal muscle-specific glycogen-targeting subunit of protein phosphatase 1 in the type 2 diabetic Japanese population.		600917	5113	1	1999												
133117	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q31.1	PPP1R3A	113301621	113346300		Chen MW 2004	14767904			3' untranslated	Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2	Japanese		KGB	5506	Hs.458309			Zhonghua yi xue yi chuan xue za zhi. 2004 Feb;21(1):29-31	Study on association of PPP1R3 gene 5 bp deletion/insertion within 3'-untranslated region polymorphism with type 2 diabetes		600917	5114	1	2004	 The PPP1R3 gene 5 bp D/I within 3'-UTR polymorphism taking on genetic variation among the different races of mankind may not play a critical role in the development of type 2 diabetes mellitus in Chinese Hans of Hefei region in Anhui province.	Control:106 normal controls;Case:268 Chinese Han patients with type 2 diabetes Hefei region of Anhui province										
133118	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7q31.1	PPP1R3A	113301621	113346300		Hansen L1995	7581368				Protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711.2			Y Wang	5506	Hs.458309	Complications		Human molecular genetics. 1995 Aug;4(8):1313-20	A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin.		600917	5115	1	1995												
133114	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	5	5q32	PPARGC1B	149090056	149207462		Andersen, G.  et al. 2005	15863669				Peroxisome proliferative activated receptor, gamma, coactivator 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133263.2			CDC GDPinfo	133522	Hs.591261			Journal of medical genetics. 2005 May;42(5):402-7	Evidence of an association between genetic variation of the coactivator PGC-1beta and obesity.		608886	19061	2	2005	 Variation of PGC-1beta may contribute to the pathogenesis of obesity, with a widespread Ala203 allele being a risk factor for the development of this common disorder.	Case obese individuals;Control:controls;Case:1,433 patients with type 2 diabetes;Control:4,935 glucose tolertant controls:Cohort:525 glucose tolerant subjects:Denmark										
133115		variegate porphyria	HEMATOLOGICAL	HEM	Porphyrias, Hepatic	1	1q22	PPOX	159402817	159414425		Warnich L et al. 1996	8817334				Protoporphyrinogen oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000309.2		South Africa	KGB	5498	Hs.517373			Human molecular genetics. 1996 Jul;5(7):981-4	Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.		600923	5112	1	1996												
133110		body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	4	4p15.1	PPARGC1A	23402741	23500798		Ambye, L.  et al. 2005	15649578				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Danish	Denmark	CDC GDPinfo	10891	Hs.527078			Diabetes research and clinical practice. 2005 Feb;67(2):175-9	Studies of the Gly482Ser polymorphism of the peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha) gene in Danish subjects with the metabolic syndrome.		604517	23278	2	2005	In conclusion, the Gly482Ser polymorphism of the PGC-1alpha gene is not associated with the metabolic syndrome, related quantitative traits or cardiac hypertrophy among Danish Caucasian subjects.	Cohort 2,349 Danish Caucasian individuals from the DanMONICA cohort comprising a population-based sample 										
133111	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Petrovic, M. G.  et al. 2005	15782399				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Slovene	Slovenia	CDC GDPinfo	10891	Hs.527078			Diabetes. 2005 Sep-Oct;21(5):470-4	Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 gene might be a risk factor for diabetic retinopathy in Slovene population (Caucasians) with type 2 diabetes and the Pro12Ala polymorphism of the PPARgamma gene i		604517	23279	2	2005	 The present study demonstrates that the AA genotype of the Gly482Ser polymorphism in the PPARGC1 gene might be a risk factor for diabetic retinopathy in the Slovene population (Caucasians) with type 2 diabetes (odds ratio 2.7, 95% confidence interval 1.0-6.8), whereas the Pro12Ala polymorphism of the PPARgamma gene failed to confer susceptibility to diabetic retinopathy.	Control:101 diabetic subjects without diabetic retinopathy;Case:160 subjects with type 2 diabetes and diabetic:retinopathy										
133112		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4	4p15.1	PPARGC1A	23402741	23500798			16395669				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		604517	26518	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
133107	Y	insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Pihlajamaki, J.  et al. 2005	15912394				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Diabetologia. 2005 Jul;48(7):1331-4	Haplotypes of PPARGC1A are associated with glucose tolerance, body mass index and insulin sensitivity in offspring of patients with type 2 diabetes.		604517	19059	2	2005	We conclude that  PPARGC1A is likely to contribute to the risk of diabetes in offspring of patients with type 2 diabetes.	Cohort 156 non-diabetic offspring (age 34.9+/-0.5 years [mean+/-SEM], BMI 26.2+/-0.4 kg/m(2)) 										
133108		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	4	4p15.1	PPARGC1A	23402741	23500798		Vohl, M. C.  et al. 2005	16122961				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2		Quebec	CDC GDPinfo	10891	Hs.527078			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):300-6	Effects of the peroxisome proliferator-activated receptor-gamma co-activator-1 Gly482Ser variant on features of the metabolic syndrome.		604517	19060	2	2005												
133109		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	4	4p15.1	PPARGC1A	23402741	23500798		Andrulionyte, L.  et al. 2004	15592662				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Diabetologia. 2004 Dec;47(12):2176-84	Common polymorphisms of the PPAR-gamma2 (Pro12Ala) and PGC-1alpha (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial.		604517	23277	2	2004	We conclude that  the Pro12Pro genotype of the PPAR-gamma2 gene and the 482Ser allele of the PGC-1alpha gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial.	Cohort 770 subjects participating in the STOP-NIDDM trial 										
133104		physical performance	NORMALVARIATION	NV		4	4p15.1	PPARGC1A	23402741	23500798		Franks, P. W.  et al. 2003	14652494				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Medicine and science in sports and exercise. 2003 Dec;35(12):1998-2004	PGC-1alpha genotype modifies the association of volitional energy expenditure with [OV0312]O2max.		604517	19056	2	2003	 Our results indicate that Ser482 homozygotes may be most capable of improving cardiorespiratory fitness when physically active, and that Gly482Ser may explain some of the between-person variance previously reported in cardiorespiratory adaptation after exercise training.	Cohort 599 healthy middle-aged people 										
133105	N	glucose tolerance; insulin; lipids	METABOLIC	MET	Diabetes Mellitus	4	4p15.1	PPARGC1A	23402741	23500798		Stumvoll, M.  et al. 2004	15146371	Gly482Ser			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	German, Dutch	Germany|Netherlands	CDC GDPinfo	10891	Hs.527078			Experimental and clinical endocrinology & diabetes. 2004 May;112(5):253-7	The Gly482Ser variant in the peroxisome proliferator-activated receptor gamma coactivator-1 is not associated with diabetes-related traits in non-diabetic German and Dutch populations.		604517	19057	2	2004	We conclude, that the Gly482Ser variant in PGC-1 is not associated with diabetes-related traits or skeletal muscle fiber type composition in a non-diabetic German and Dutch population.	Cohort 423 normal glucose tolerant German subjects Germany Cohort 65/94 normal (n = 65) and impaired glucose tolerant (n = 94) subjects the Netherlands 										
133106		endurance performance	NORMALVARIATION	NV		4	4p15.1	PPARGC1A	23402741	23500798		Lucia, A.  et al. 2005	15705733				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Journal of applied physiology (Bethesda, Md :  1985). 2005 Jul;99(1):344-8	PPARGC1A genotype (Gly482Ser) predicts exceptional endurance capacity in European men.		604517	19058	2	2005	In summary, our data indicate a role for the Gly482Ser genotype in determining aerobic fitness. This finding has relevance from the perspective of physical performance, but may also be informative for the targeted prevention of diseases associated with low fitness such as type 2 diabetes.	Control:100;Case:104 World-class Spanish male endurance athletes (mean										
133101		insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Hara, K.  et al. 2002	12107756				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2		Japan	CDC GDPinfo	10891	Hs.527078			Diabetologia. 2002 May;45(5):740-3	A genetic variation in the PGC-1 gene could confer insulin resistance and susceptibility to Type II diabetes.		604517	19053	2	2002	The results of this study suggested that the PGC-1 gene might be implicated in the pathogenesis of Type II diabetes.	Control:417 non-diabetic subjects;Case:537 Type II diabetic patients										
133103	Y	diabetes, type 2; insulin; lipids; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Muller, Y. L.  et al. 2003	12606537				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Pima Indian		CDC GDPinfo	10891	Hs.527078			Diabetes. 2003 Mar;52(3):895-8	A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians.		604517	19055	2	2003	These data indicate that the Gly482Ser missense polymorphism in PGC-1 has metabolic consequences on lipid metabolism that could influence insulin secretion.	Cohort 183-201 nondiabetic Pima Indians Cohort 984 Pima Indians 										
133098		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Vimaleswaran, K. S.  et al. 2005	16241916				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Indian	India	CDC GDPinfo	10891	Hs.527078			Diabetic medicine. 2005 Nov;22(11):1516-21	Peroxisome proliferator-activated receptor-gamma co-activator-1alpha (PGC-1alpha) gene polymorphisms and their relationship to Type 2 diabetes in Asian Indians.		604517	13312	2	2005	 The A allele of Thr394Thr (G --> A) polymorphism of the PGC-1 gene is associated with Type 2 diabetes in Asian Indian subjects and the XA genotype confers 1.6 times higher risk for Type 2 diabetes compared with the GG genotype in this population.											
133099		insulin sensitivity; insulin resistance	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Hasstedt, S. J.  et al. 2001	11158005				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			The Journal of clinical endocrinology and metabolism. 2001 Feb;86(2):536-41	Effect of the peroxisome proliferator-activated receptor-gamma 2 pro(12)ala variant on obesity, glucose homeostasis, and blood pressure in members of familial type 2 diabetic kindreds.		604517	19051	2	2001	We confirm an association of the P12A variant in traits commonly ascribed to the insulin resistance syndrome, but not with direct measures of insulin sensitivity. The tendency for this variant to act in a recessive manner with effects on multiple traits may explain the inconsistent associations noted in previous studies.	Cohort 619 members of 52 familial type 2 diabetes kindreds 										
133100	Y	obesity	METABOLIC	MET	Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Esterbauer, H.  et al. 2002	11916956				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Diabetes. 2002 Apr;51(4):1281-6	Peroxisome proliferator-activated receptor-gamma coactivator-1 gene locus: associations with obesityindices in middle-aged women.		604517	19052	2	2002	These studies suggest functional differences of PPARGC1 haplotypes in human energy metabolism and support a role of PPARGC1 in obesity.	Cohort 1058 individuals (591 middle-aged men and 467 middle-aged women) 										
133095	N	diabetes, type 2; hypertension	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Chen, S.  et al. 2004	15824463				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Chinese		CDC GDPinfo	10891	Hs.527078			Hypertension research. 2004 Nov;27(11):813-20	Peroxisome proliferator-activated receptor-gamma coactivator-1alpha polymorphism is not associated with essential hypertension and type 2 diabetes mellitus in Chinese population.		604517	13309	2	2004	In conclusion, these results indicated that these two variations in the PGC-1alpha gene might not contribute to the risk of hypertension and type 2 diabetes in the Chinese population studied here.	Case:494 unrelated Chinese subjects with essential hypertension and type 2 diabetes;Control:555 normal control subjects										
133096	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Kim, J. H.  et al. 2005	15937669			promoter	Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Korean	Korea	CDC GDPinfo	10891	Hs.527078			Diabetologia. 2005 Jul;48(7):1323-30	Peroxisome proliferator-activated receptor gamma coactivator 1 alpha promoter polymorphisms are associated with early-onset type 2 diabetes mellitus in the Korean population.		604517	13310	2	2005	Our results suggest that PPARGC1A promoter polymorphisms are associated with age at diagnosis of type 2 diabetes and early-onset type 2 diabetes in the Korean population.	Control:303 non-diabetic controls;Case:762 unrelated patients with type 2 diabetes:Korea										
133097		diabetes, type 2	METABOLIC	MET		4	4p15.1	PPARGC1A	23402741	23500798		Wang, Y.  et al. 2005	16086291				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):453-6	[Study on the relationship between polymorphisms of peroxisome proliferators-activated receptor-gamma coactivator-1alpha gene and type 2 diabetes in Shanghai Hans in China]		604517	13311	2	2005	 This study suggested that the PGC-1alpha gene might be implicated in the pathogenesis of T2DM. But the studied SNPs in PGC-1alpha gene may not be major susceptibility ones of T2DM mellitus in Han people of Shanghai.											
133092	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Kunej, T.  et al. 2004	15581067				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Caucasian	Slovenia	CDC GDPinfo	10891	Hs.527078			Folia biologica. 2004 ;50(5):157-8	A Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-1) gene is associated with type 2 diabetes in Caucasians.		604517	13303	2	2004	In conclusion, we suggest that the AA genotype of the Gly482Ser polymorphism of the PGC-1 gene should be considered as a risk factor for the development of type 2 diabetes in Caucasians.	Control:240 non-diabetic controls;Case:305 Caucasian patients with type 2 diabetes										
133093	Y	hypertension	CARDIOVASCULAR	CARD	Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Cheurfa, N.  et al. 2004	15599700	Gly482Ser			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Diabetologia. 2004 Nov;47(11):1980-3	The Gly482Ser polymorphism in the peroxisome proliferator-activated receptor-gamma coactivator-1 gene is associated with hypertension in type 2 diabetic men.		604517	13305	2	2004	We have observed a sex-specific association between the PPARGC-1 gene Gly482Ser polymorphism and arterial hypertension in type 2 diabetic men. Further studies are needed to investigate the genetic, biochemical and pathophysiological basis of this allelic association.	Cohort 479/253 men (n=479) and women (n=253) with type 2 diabetes 										
133094		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Andersen, G.  et al. 2005	15738346	Gly482Ser			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Danish	Denmark	CDC GDPinfo	10891	Hs.527078			Hypertension. 2005 Apr;45(4):565-70	PGC-1alpha Gly482Ser polymorphism associates with hypertension among Danish whites.		604517	13307	2	2005	In conclusion, the Ser allele of PGC-1alpha Gly482Ser confers a significantly reduced risk of hypertension in whites. Further studies are needed to elucidate the differential role of this polymorphism in men and women.	Cohort 2,562 Danish white subjects 										
133090	Y	altered lipid oxidation and early insulin secretion	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Muller YL et al. 2003	12606537	Gly482Ser missense mutation		coding sequence	peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			KGB	10891	Hs.527078			Diabetes. 2003 Mar;52(3):895-8	A Gly482Ser missense mutation in the peroxisome proliferator-activated receptor gamma coactivator-1 is associated with altered lipid oxidation and early insulin secretion in Pima Indians.		604517	6679	1	2003	These data indicate that the Gly482Ser missense polymorphism in PGC-1 has metabolic consequences on lipid metabolism that could influence insulin secretion.											
133091	N	Type II diabetes	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Obesity, Morbid	4	4p15.1	PGC1	23402741	23500798	n	Lacquemant C et al. 2002	12032643				peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261		France	KGB	10891	Hs.527078			Diabetologia. 2002 Apr;45(4):602-3; author reply 604	No association between the G482S polymorphism of the proliferator-activated receptor- gamma coactivator-1 (PGC-1) gene and Type II diabetes in French Caucasias.			6680	1	2002												
133086		triglycerides	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Ribalta, J.  et al. 2005	15764642				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		601487	27822	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
133087		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p25	PPARG	12304348	12450855		Liljedahl, U.  et al. 2003	12544508				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		601487	28573	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
133088		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Watanabe, I.  et al. 2003	12732844				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Japanese	Japan	CDC GDPinfo	5468	Hs.162646			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		601487	28634	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
133083		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		McGreavey, L. E.  et al. 2005	16141797				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Pharmacogenetics and genomics. 2005 Oct;15(10):713-21	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.		601487	26517	2	2005	 Our study confirmed the reduction in risk of colorectal cancer with regular NSAID use (odds ratio (OR) = 0.73, 95% confidence interval (CI) (0.56, 0.95)) but showed that none of the polymorphic genes studied appeared to modify the protective effect of regular NSAID use.		nonsteroidal anti-inflammatory (NSAID)									
133084		heart disease, ischemic	CARDIOVASCULAR	CARD		3	3p25	PPARG	12304348	12450855		Zateishchikov, D. A.  et al. 2004	15699916				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Kardiologiia. 2004 ;44(12):16-22	[Genetic Predictors of Unfavorable Course in High Risk Patients With Ischemic Heart Disease. Data of Follow-up for Two Years.]		601487	27181	2	2004	Thus genetic factors play a role not only in formation of coronary atherosclerosis but determine the course of ischemic heart disease.	Cohort 154 patients with acute unstable angina 										
133085		insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	3	3p25	PPARG	12304348	12450855		Haap, M.  et al. 2005	15926113				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		601487	27601	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
133080		obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	3	3p25	PPARG	12304348	12450855		Evans, D.  et al. 2001	11466580				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		601487	26514	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
133081		insulin; blood pressure, arterial	METABOLIC	MET	Hypertension|Obesity	3	3p25	PPARG	12304348	12450855		Kobalava, Z. D.  et al. 2005	15940190				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Kardiologiia. 2005 ;45(4):37-43	[Clinical Genetic Determinants of Carbohydrate Metabolism Disturbances in Patients With Hypertension and Excessive Weight.]		601487	26515	2	2005	No association was found between systolic BP and alleles and genotypes of polymorphic markers of PPARG2 and PPARA genes.											
133082		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Minushkina, L. O.  et al. 2003	14671555				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Kardiologiia. 2003 ;43(12):71-5	[Genetic predictors of left ventricular hypertrophy: do polymorphisms of peroxisomeproliferator activated nuclear receptor genes play any role?]		601487	26516	2	2003	 There was no association between presence of LVH and polymorphic marker Pro12AIa. Carriers of 4a allele of a polymorphic marker ecNOS4a/4b of NOS3 gene, A allale of a polymorphic marker G7831A of ACE gene, and C allele of PPARA gene had significantly greater left ventricular myocardial mass index. Monofactorial regression analysis showed that degree of LVH was significantly related to age, duration of hypertension, maximal systolic blood pressure. No relationship was found between left ventricular mass index and smoking, maximal diastolic blood pressure, habitual systolic and diastolic blood pressure, duration of hypertension, presence of ischemic heart disease, diabetes. According to results of multifactorial analysis A allele of a polymorphic marker G7831A of ACE gene, age and maximal systolic blood pressure were while C allele of PPARA gene was not independently related to the presence of LVH.	Case:110 patients with hypertension with left verntricular:hypertrophy;Control:53 hypertensives without left ventricular hypertrophy										
133077		triglycerides; atherosclerosis, coronary; lipoprotein	METABOLIC	MET	Coronary Artery Disease	3	3p25	PPARG	12304348	12450855		Chen, S.  et al. 2004	15128052				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Pharmacogenetics. 2004 Jan;14(1):61-71	Effects of PPARalpha, gamma and delta haplotypes on plasma levels of lipids, severity and progression of coronary atherosclerosis and response to statin therapy in the lipoprotein coronary atherosclerosis study.		601487	25461	2	2004	No significant associations between PPARA haplotypes and the phenotypes or significant interactions between PPAR haplotypes and the occurrence of new clinical events were detected. PPARD and PPARG haplotypes are independent determinants of plasma levels of lipids, severity of coronary atherosclerosis and its response to therapy.	Cohort 372 Lipoprotein and Coronary Atherosclerosis Study subjects 	fluvastatin									
133078	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	3	3p25	PPARG	12304348	12450855		Landi, S.  et al. 2003	12839942				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Spain	CDC GDPinfo	5468	Hs.162646			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		601487	26512	2	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
133079		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Nassar, B. A.  et al. 2005	16298355				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			LastName. 2005	=>Author:Nassar, B. A. //Rockwood, K. //Kirkland, S. A. //Ransom, T. P. //Darvesh, S. //Macpherson, K. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Andreou, P. //Jeffery, J. S. //Cox, J. L. //Title, L. M.		601487	26513	2	2005	 While any single mutation causes only a mildly increased LR (none > 1.7), in combination, the likelihood of early-onset CAD increased to 2.78 with four mutations. The genetics of early-onset CAD appear to be multifactorial, requiring polygenic models to elucidate risk.											
133074		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Paracchini, V.  et al. 2005	15972940				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			American journal of epidemiology. 2005 Jul;162(2):101-14	Genetics of leptin and obesity: a HuGE review.		601487	25458	2	2005												
133075		hypertension; glucose tolerance; insulin; hematology indices	CARDIOVASCULAR	CARD	Hypertension|Glucose Metabolism Disorders	3	3p25	PPARG	12304348	12450855			15759454				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Ter Arkh. 2005 ;77(1):46-51	[Clinicogenetic aspects of carbohydrate metabolism disorders and efficacy of their correction with moxonidine and metformine in patients with arterial hypertension]		601487	25459	2	2005	 Genetic factors participate in development of metabolic disturbances in hypertensive patients, obesity and CD and determine treatment efficacy in each individual patient.	Cohort 83 patients (31 male and 52 female patients aged 40-75 years) with untreated arterial hypertension stage I, obesity and CD (by glucose tolerance test) 	metformin moxonidin									
133076		obesity	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Nieters, A.  et al. 2002	12395215				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		601487	25460	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
133071		insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity, Morbid|Weight Loss	3	3p25	PPARG	12304348	12450855		Sesti, G.  et al. 2005	15985484				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5064-9	Impact of common polymorphisms in candidate genes for insulin resistance and obesity on weight loss of morbidly obese subjects after laparoscopic adjustable gastric banding and hypocaloric diet.		601487	25455	2	2005	 These data demonstrate that genetic factors, which play an important role in the regulation of body weight, may account for differences in the therapeutic response to LAGB.											
133072		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855			16367885				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Diabetes, obesity & metabolism. 2006 Jan;8(1):75-82	IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do aminoacid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?		601487	25456	2	2006	 The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk. This same finding has been reported in patients with T2DM.											
133073	N	weight gain	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain	3	3p25	PPARG	12304348	12450855		van Rossum, C. T.  et al. 2002	12075579				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Dutch	Netherlands	CDC GDPinfo	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):517-28	Genetic factors as predictors of weight gain in young adult Dutch men and women.		601487	25457	2	2002	 Only variations in the ADRB2 gene and LEPR gene, may contribute to susceptibility to weight gain. None of the other studied genetic markers were clearly associated with weight gain. Further research is necessary to establish the role of lifestyle factors, or interactions between genes or between genes and lifestyle factors on weight gain with age.	Case:286 subjects aged 20-40 y who gained an average of 12.8 kg (range 5.5-47 kg) during a mean follow-up of 6.8 y from two large cohorts in The Netherlands;Control:296 subjects who remained relatively constant over the same period										
133067		body mass; insulin; obesity; glucose	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Park, H. S.  et al. 2005	15959859				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Korea	CDC GDPinfo	5468	Hs.162646			Journal of human genetics. 2005 ;50(7):365-9	Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18.3% of adolescent obesity variation.		601487	25451	2	2005												
133069		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	3	3p25	PPARG	12304348	12450855		Campa, D.  et al. 2003	14604894				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Carcinogenesis. 2004 Feb;25(2):229-35	Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer.		601487	25453	2	2003	This is the first study implicating polymorphisms in inflammatory genes to the risk of lung cancer.	Control:214:controls;Case:250 lung cancer patients										
133070		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression|Inflammation	3	3p25	PPARG	12304348	12450855		Leibovici, D.  et al. 2005	16110031				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of clinical oncology. 2005 Aug;23(24):5746-56	Polymorphisms in inflammation genes and bladder cancer: from initiation to recurrence, progression,and survival.		601487	25454	2	2005	 Inflammation gene polymorphisms are associated with modified BC risk, treatment response, and survival.		smoking (tobacco)									
133064		hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Gouni-Berthold, I.  et al. 2005	15662218				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of hypertension. 2005 Feb;23(2):301-8	Peroxisome proliferator-activated receptor-gamma2 Pro12Ala and endothelial nitric oxide synthase-4a/b gene polymorphisms are not associated with hypertension in diabetes mellitus type 2.		601487	23274	2	2005	 In DM2 the Pro12Ala and 4a/b gene polymorphisms of the PPARgamma2 and eNOS genes, respectively, are not associated with systolic or diastolic blood pressure, either in men or in women. Our results in a large cohort fail to confirm reports of recent studies suggesting an association of lower blood pressure in patients with DM2 and carriers of Pro12Ala polymorphism.	Cohort 395 patients with type 2 diabetes (225 men and 170 women) from the LIANCO (Lipid-Analytic-Cologne) study 										
133065		insulin; glucose	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Bosse, Y.  et al. 2003	14677049				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of human genetics. 2003 ;48(12):614-21	Combined effects of PPARgamma2 P12A and PPARalpha L162V polymorphisms on glucose and insulin homeostasis: the Qu????bec Family Study.		601487	23275	2	2003	These results provide evidence of a gene-gene interaction in the regulation of plasma glucose-insulin homeostasis, and emphasize that these interactions need to be taken into account when dissecting the genetic etiology of complex disorders.	Cohort 663 nondiabetic adults participating in the Quebec Family Study 										
133066	N	psoriasis	IMMUNE	IMM	Psoriasis	3	3p25	PPARG	12304348	12450855		Mossner, R.  et al. 2004	15083308				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Archives of dermatological research. 2004 Jun;296(1):5-Jan	Variations in the genes encoding the peroxisome proliferator-activated receptors alpha and gamma in psoriasis		601487	23276	2	2004	No association between any of the investigated PPAR variants and psoriasis was found. Our findings argue against a significant contribution of the investigated PPAR variations to the genetic basis of psoriasis.	Case:192 patients with chronic plaque-type psoriasis;Control:330 healthy controls										
133061		adiponectin	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Mousavinasab, F.  et al. 2005	15781195				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Finnish		CDC GDPinfo	5468	Hs.162646			Molecular genetics and metabolism. 2005 Apr;84(4):344-8	Common polymorphisms in the PPARgamma2 and IRS-1 genes and their interaction influence serum adiponectin concentration in young Finnish men.		601487	23271	2	2005	We conclude that  the Ala12Ala genotype of PPARgamma2 is associated with elevated adiponectin level, and that the PPARgamma2 and IRS-1 genes have a possible interaction in their effects on adiponectin concentration.	Cohort young Finnish servicemen Finland 										
133062	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Hansen, S. K.  et al. 2005	15797964				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			The Journal of clinical endocrinology and metabolism. 2005 Jun;90(6):3629-37	Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.		601487	23272	2	2005	In conclusion, our results showed no evidence of a synergistic interaction between the KCNJ11 Glu23Lys and PPARG Pro12Ala polymorphisms but indicated that they may act in an additive manner to increase the risk of type 2 diabetes.	Case:1,164 type 2 diabetic patients;Control:4,733 middle-aged glucose tolerant subjects										
133063		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Rodriguez-Esparragon, F. J.  et al. 2003	12923396				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of hypertension. 2003 Sep;21(9):1649-55	Peroxisome proliferator-activated receptor-gamma2-Pro12Ala and endothelial nitric oxide synthase-4a/bgene polymorphisms are associated with essential hypertension		601487	23273	2	2003	 Both analyzed polymorphisms were associated in a synergistic manner with hypertension. This effect manifested only in those subjects with normal homocysteine plasma values. Our findings suggest complex genotype-environmental interactions on hypertensive risk.	Control:223 normotensive matched controls;Case:235 subjects with arterial hypertension										
133058		diabetes, type 2; nephropathy, diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Malecki, M. T.  et al. 2002	11980626				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Polish	Poland	CDC GDPinfo	5468	Hs.162646			European journal of endocrinology. 2002 May;146(5):695-9	Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population.		601487	23268	2	2002	 The results of our study suggest the association of calpain 10 121/121 haplotype combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. However, we were not able to confirm the previously described role of the heterozygous 112/121 haplotype combination in susceptibility to T2DM.	Control:148 control individuals;Case:229 type 2 diabetes patients:Poland										
133059	Y	body mass; insulin	NORMALVARIATION	NV	Insulin Resistance	3	3p25	PPARG	12304348	12450855		Damcott, C. M.  et al. 2004	15015141				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		United States	CDC GDPinfo	5468	Hs.162646			Metabolism:  clinical and experimental. 2004 Mar;53(3):303-9	Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males.		601487	23269	2	2004	These findings provide evidence that FABP4 and PPARgamma work together to influence a biologic pathway affecting insulin sensitivity and body composition, illustrating the importance of investigating the joint effect of genes in determining susceptibility for complex disease.	Cohort 314 Hispanic and non-Hispanic white makes participating in the San Luis Valley Diabetes Study 										
133060		insulin	METABOLIC	MET	Insulin Resistance|Obesity, Morbid	3	3p25	PPARG	12304348	12450855		Baratta, R.  et al. 2003	14574455				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of molecular medicine (Berlin, Germany). 2003 Nov;81(11):718-23	Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) andPPARgamma2 (P12A) polymorphisms.		601487	23270	2	2003	Overall, a significant interaction between the two genes was observed on body mass index, insulin levels (both fasting and after OGTT) and both insulin sensitivity (i.e., insulin sensitivity index and M value) and insulin secretion (i.e., HOMA-B+ACU-) indexes.	Cohort 338 subjects representative of an overall cohort of 338 healthy unrelated subjects, all nondiabetic and not morbidly obese Sicily 										
133055	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	3	3p25	PPARG	12304348	12450855		Meirhaeghe, A.  et al. 2005	16186413				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	French	France	CDC GDPinfo	5468	Hs.162646			Diabetes. 2005 Oct;54(10):3043-8	Association between peroxisome proliferator-activated receptor gamma haplotypes and the metabolic syndrome in French men and women.		601487	19050	2	2005												
133056	N	schizophrenia; alcohol dependence	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Schizophrenia	3	3p25	PPARG	12304348	12450855		Ishiguro, H.  et al. 2002	11840500				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Japan	CDC GDPinfo	5468	Hs.162646			American journal of medical genetics. 2002 Jan;114(1):15-23	Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: Possiblehaplotype association of nuclear-related receptor 1 gene to alcohol		601487	19295	2	2002	Extended case control samples did not suggest an association between the diseases and the RXRB or PPARA polymorphisms. However, they revealed a significant association between the NR4A2 gene haplotype and alcohol dependence, indicating that 2q22--q23 including the NR4A2 gene locus is a possible genomic region contributing to genetic susceptibility to alcohol dependence.	Control not specified in abstract;Case:32 patients with alcohol dependence;Case:48 Japanese patients with schizophrnia										
133057		obesity	METABOLIC	MET	Obesity, Morbid	3	3p25	PPARG	12304348	12450855		Koumanis, D. J.  et al. 2002	12568179				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Obesity surgery. 2002 Dec;12(6):759-64	Pilot study examining the frequency of several gene polymorphisms in a morbidly obese population.		601487	23267	2	2002	 These results underscore the relationship between gene polymorphisms and obesity. Obese individuals may differ from non-obese individuals in the gene polymorphisms associated with metabolic control.	Control:102 controls with a BMI < 30 attending a Lipid Clinic;Case:126 individuals with a BMI > 40 in the McGill University Health Centre Bariatric Surgery Program										
133052	Y	insulin	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	3	3p25	PPARG	12304348	12450855		Muller, Y. L.  et al. 2003	12829658			promoter	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Indian	Arizona	CDC GDPinfo	5468	Hs.162646			Diabetes. 2003 Jul;52(7):1864-71	A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians.		601487	19045	2	2003	These data indicate that this promoter SNP, via its effect on PPARgamma2 expression, may also have functional consequences on PPARgamma2-activated pathways, and perhaps both the promoter SNP and the Pro12Ala contribute to PPARgamma2-related phenotypes.	Cohort 241 nondiabetic Pima Indians 										
133053	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Obesity	3	3p25	PPARG	12304348	12450855		Wang, C.  et al. 2004	15211802				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Chinese		CDC GDPinfo	5468	Hs.162646			Wei sheng yan jiu. 2004 May;33(3):317-20	[Association of Pro12Ala mutation in peroxisome proliferator-activated receptor gamma 2 with obesity and diabetes in Chinese population]		601487	19047	2	2004	 The Pro12Ala mutation in PPAR gamma 2 was not associated with either diabetes or obesity. The PPAR gamma 2 Ala allele may be involved in the expression of resistin and insulin sensitivity.	Case:140 obese subjects;Control:91 normal weight subjects										
133054	Y	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Insulin Resistance	3	3p25	PPARG	12304348	12450855		Temelkova-Kurktschiev, T.  et al. 2004	15356014				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			The Journal of clinical endocrinology and metabolism. 2004 Sep;89(9):4238-42	Ala12Ala Genotype of the Peroxisome Proliferator-Activated Receptor {gamma}2 Protects against Atherosclerosis		601487	19048	2	2004	In conclusion, our data suggest that the Ala(12)Ala genotype of the PPARgamma2 gene may protect from early atherosclerosis in subjects at risk for diabetes.	Cohort 622 subjects aged 40-70 yr, who were participants of the RIAD (Risk factors in Impaired glucose tolerance for Atherosclerosis and Diabetes) study and were at risk of developing type 2 diabetes 										
133049	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Bluher, M.  et al. 2003	12610044				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Diabetes care. 2003 Mar;26(3):825-31	Analysis of the relationship between the Pro12Ala variant in the PPAR-gamma2 gene and the response rate to therapy with pioglitazone in patients with type 2 diabetes.		601487	19042	2	2003	 The Pro12Ala variant in the PPAR-gamma gene does not affect the therapy efficacy of pioglitazone, suggesting that the drug-treatment response is independent from pharmacogenetic effects between PPAR-gamma and its ligand pioglitazone. Whether the Ala12Ala genotype plays a role in the response rate to TZD therapy remains to be determined.	Cohort 131 patients with type 2 diabetes 										
133050	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Ridker, P. M.  et al. 2003	12663371				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		United States	CDC GDPinfo	5468	Hs.162646			Arteriosclerosis, thrombosis, and vascular biology. 2003 May;23(5):859-63	Alanine for proline substitution in the peroxisome proliferator-activated receptor gamma-2 (PPARG2) gene and the risk of incident myocardial infarction.		601487	19043	2	2003	 In this cohort, a common A for P substitution at codon 12 in the PPARG2 was associated with reduced incidence of myocardial infarction. If confirmed in other cohorts, these data would have implications for novel treatments of cardiovascular disease, including development of PPARG-targeted therapy.	Cohort 523 individuals from a prospective cohort of 14,916 initially healthy American men 										
133051		insulin; obesity	METABOLIC	MET	Glucose Intolerance|Insulin Resistance|Obesity	3	3p25	PPARG	12304348	12450855		Bluher, M.  et al. 2003	12746759				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Experimental and clinical endocrinology & diabetes. 2003 Apr;111(2):85-90	Analysis of the relationship between PPAR-gamma 2 gene variants and severe insulin resistance in obese patients with impaired glucose tolerance.		601487	19044	2	2003	In conclusion, the Pro115 Gln variant, but not the Pro12Ala mutation in the PPAR-gamma 2 gene, could be a rare cause of severe insulin resistance.	Case:48 subjects with IGT and insulin resistance (IR);Control:52 healthy insulin sensitive (IS) controls										
133046	N	body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	3	3p25	PPARG	12304348	12450855		Ambye, L.  et al. 2005	15649578	Gly482Ser			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Danish	Denmark	CDC GDPinfo	5468	Hs.162646			Diabetes research and clinical practice. 2005 Feb;67(2):175-9	Studies of the Gly482Ser polymorphism of the peroxisome proliferator-activated receptor gamma coactivator 1alpha (PGC-1alpha) gene in Danish subjects with the metabolic syndrome.		601487	13306	2	2005	In conclusion, the Gly482Ser polymorphism of the PGC-1alpha gene is not associated with the metabolic syndrome, related quantitative traits or cardiac hypertrophy among Danish Caucasian subjects.	Cohort 2,349 Danish Caucasian individuals from the DanMONICA cohort comprising a population-based sample 										
133047	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Petrovic, M. G.  et al. 2005	15782399	Gly482Ser			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Slovene	Slovenia	CDC GDPinfo	5468	Hs.162646			Diabetes. 2005 Sep-Oct;21(5):470-4	Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 gene might be a risk factor for diabetic retinopathy in Slovene population (Caucasians) with type 2 diabetes and the Pro12Ala polymorphism of the PPARgamma gene i		601487	13308	2	2005	 The present study demonstrates that the AA genotype of the Gly482Ser polymorphism in the PPARGC1 gene might be a risk factor for diabetic retinopathy in the Slovene population (Caucasians) with type 2 diabetes (odds ratio 2.7, 95% confidence interval 1.0-6.8), whereas the Pro12Ala polymorphism of the PPARgamma gene failed to confer susceptibility to diabetic retinopathy.	Control:101 diabetic subjects without diabetic retinopathy;Case:160 subjects with type 2 diabetes and diabetic:retinopathy										
133048		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Fu, M.  et al. 2002	12048686				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):234-8	[Association of Pro12Ala variant in peroxisome proliferator-activated receptor-gamma2 gene with type 2 diabetes mellitus]		601487	19041	2	2002	 The above data showed that the Pro12Ala variant of peroxisome proliferator-activated receptor-gamma2 was not significantly associated with type 2 diabetes, but it could be associated with abdominal obesity in type 2 diabetes. The significant difference of Pro12Ala of peroxisome proliferator-activated receptor-gamma2 among various races was observed.	Cohort 401 unrelated subjects of the Han population in the southern part of China (including 180 subjects with normal glucose tolerance and 221 type 2 diabetic patients). 										
133043	Y	obesity	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Bidzinska, B.  et al. 2004	15690702				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Poland	CDC GDPinfo	5468	Hs.162646			Polski merkuriusz lekarski. 2004 Oct;17(100):361-4	[Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in the PPARgamma gene?]		601487	13301	2	2004	 The frequency Ala allele (pro12Ala and Ala12Ala variant) was 28% in the whole group and 25% in the obese subjects. However the Pro12Ala polymorphism is quite common, it does not seem to be directly connected with onset of obesity. But it is interesting that the Ala allele is more frequent in non-obese women comparing to obese women (33 vs 20%). Reverse tendency was seen in men. Pro12Ala and/or Ala12Ala polymorphism is twice more frequent in obese subjects comparing to non-obese ones (38 vs 19%).	Case:13/35 obese men (n=13) and women (n=35);Control:8/37 non-obese men (n=8) and women (n=37)										
133044	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3p25	PPARG	12304348	12450855		Danawati, C. W.  et al. 2005	15739197				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Indonesia	CDC GDPinfo	5468	Hs.162646			Diabetes. 2005 Sep-Oct;21(5):465-9	A possible association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma2 gene with obesity in native Javanese in Indonesia.		601487	13302	2	2005	 In this study, no association is seen between the Pro12Ala polymorphism in PPAR gamma2 gene and diabetes; a weak association with obesity is seen.	Control:203 normal glucose tolerant subjects;Case:337 diabetic native Javanese subjects:Indonesia	obesity									
133045	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	3	3p25	PPARG	12304348	12450855		Andrulionyte, L.  et al. 2004	15592662				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Diabetologia. 2004 Dec;47(12):2176-84	Common polymorphisms of the PPAR-gamma2 (Pro12Ala) and PGC-1alpha (Gly482Ser) genes are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial.		601487	13304	2	2004	We conclude that  the Pro12Pro genotype of the PPAR-gamma2 gene and the 482Ser allele of the PGC-1alpha gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes in the STOP-NIDDM trial.	Cohort 770 subjects participating in the STOP-NIDDM trial 										
133040		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension|Diabetes Mellitus, Type 2|Metabolic Syndrome X	3	3p25	PPARG	12304348	12450855		Yan, Z. C.  et al. 2004	15144586				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Zhonghua yi xue za zhi. 2004 Apr;84(7):543-7	[Peroxisome proliferator-activated receptor gamma C-161T polymorphism and carotid artery atherosclerosis in metabolic syndrome]		601487	13298	2	2004	 In MS, CC genotype was prone to lesion of carotid artery, but CT + TT may reduce lesion of carotid artery, which implicates that PPAR gamma C161-T may play a important role in carotid artery arteriosclerosis.	Control:121 normal controls;Case:248/163/115 metabolism syndrome (n=248), essential hypertension (n=163) and type 2 diabetes mellitus (n=115):patients										
133041		obesity	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Bidzinska, B.  et al. 2004	15518421	Pro12Ala, Pro115Gln			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Poland	CDC GDPinfo	5468	Hs.162646			Polski merkuriusz lekarski. 2004 May;16(95):434-7	[Is obesity associated with a polymorphism Pro12Ala and Pro115Gln in PPARgamma gene?]		601487	13299	2	2004	 The frequency Ala allele (pro12Ala and Ala12Ala variant) was 28% in the whole group and 25% in the obese subjects. However the Pro12Ala polymorphism is quite common, it does not seem to be directly connected with onset of obesity. But it is interesting that the Ala allele is more frequent in non-obese women comparing to obese women (33 vs 20%). Reverse tendency was seen in men. Pro12Ala and/or Ala12Ala polymorphism is twice more frequent in obese subjects comparing to non-obese ones (38 vs 19%).	Control:45 non-obese individuals (women=37, men=8);Case:48 obese individuals (women=35, men =13)										
133042		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Siezen, C. L.  et al. 2005	15550453				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Netherlands	CDC GDPinfo	5468	Hs.162646			Carcinogenesis. 2005 Feb;26(2):449-57	Colorectal adenoma risk is modified by the interplay between polymorphisms in arachidonic acid pathway genes and fish consumption.		601487	13300	2	2005	These results indicate that SNPs in genes involved in the AA pathway are associated with colorectal adenoma risk. Some of these associations are modified by fish consumption.	Case:384 colorectal cancer cases The Netherlands;Control:403 polyp-free controls	fish									
133037		beta-cell function; insulin sensitivity	METABOLIC	MET	Diabetes Mellitus, Type 1|Insulin Resistance	3	3p25	PPARG	12304348	12450855		Fritsche, A.  et al. 2001	11402923	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Deutsche medizinische Wochenschrift (1946). 2001 May;126(20):580-4	[Polymorphism of pro12Ala in peroxisome proliferator activated receptor gamma 2 (PPAgamma2): beta cell function and insulinsensitivity]		601487	13295	2	2001	 These simultaneously obtained data for insulin secretion and sensitivity strongly suggest that the mechanism by which the Ala allele contributes to a risk reduction for type 2 diabetes most likely involves an increase in insulin sensitivity.	Cohort 77 non-diabetic subjects 										
133038	Y	cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Yamakawa-Kobayashi, K.  et al. 2002	11897821	Val227Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			Journal of medical genetics. 2002 Mar;39(3):189-91	A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.		601487	13296	2	2002	In the total subject, the mean serum total cholesterol level in carriers of the Ala227 allele was significantly lower than that in non-carriers. The lipid profiles of the carriers with the Ala227 allele appear favourable compared with those of non-carriers.	Cohort 401 Japanese unrelated and apparently healthy subjects (207 men and 194 women) Tokyo, Japan 										
133039	Y	lipids; height	METABOLIC	MET	Lipid Metabolism, Inborn Errors	3	3p25	PPARG	12304348	12450855		Meirhaeghe, A.  et al. 2003	12588773			promoter	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	French		CDC GDPinfo	5468	Hs.162646			Arteriosclerosis, thrombosis, and vascular biology. 2003 Feb;23(2):289-94	A functional polymorphism in a STAT5B site of the human PPAR gamma 3 gene promoter affects height and lipid metabolism in a French population		601487	13297	2	2003	 Our results suggest that PPARgamma3 may regulate the control of height and lipid homeostasis via the STAT5B pathway.	Cohort 836 French individuals 										
133034	N	breast cancer and body mass	CANCER	CAN	Breast Neoplasms|Body Weight|Weight Gain	3	3p25	PPARG	12304348	12450855	n	Memisoglu A et al. 2002	12439219	codon 12			peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138711			KGB	5468	Hs.162646			Pharmacogenetics. 2002 Nov;12(8):597-603	Lack of association of the codon 12 polymorphism of the peroxisome proliferator-activated receptor gamma gene with breast cancer and body mass.		601487 		5110	1	2002												
133035	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Fu M et al. 2002	12048686	Pro12Ala			peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138711			KGB	5468	Hs.162646			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3	Association of Pro12Ala variant in peroxisome proliferator-activated receptor-gamma2 gene with type 2 diabetes mellitus		601487	5111	1	2002	 The above data showed that the Pro12Ala variant of peroxisome proliferator-activated receptor-gamma2 was not significantly associated with type 2 diabetes, but it could be associated with abdominal obesity in type 2 diabetes. The significant difference of Pro12Ala of peroxisome proliferator-activated receptor-gamma2 among various races was observed.											
133036	Y	cardiovascular risk factors	CARDIOVASCULAR	CARD	Diabetes Mellitus|Hyperlipidemias|Obesity|Genetic Predisposition to Disease|Thinness	3	3p25	PPARG	12304348	12450855		Swarbrick, M. M.  et al. 2001	11248748	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Australia	CDC GDPinfo	5468	Hs.162646			European journal of endocrinology. 2001 Mar;144(3):277-82	A Pro12Ala polymorphism in the human peroxisome proliferator-activated receptor-gamma 2 is associated with combined hyperlipidaemia in obesity.		601487	13294	2	2001	 Obese carriers of the Pro12Ala polymorphism have a greater risk of developing combined hyperlipidaemia, possibly due to impaired activation of PPAR gamma target genes. The Pro12Ala polymorphism is not directly associated with obesity, hypertension or diabetes in this population.	Case:292 obese, Western Australian Caucasian subjects;Control:371 lean, Western Australian Caucasian subjects										
133030	Y	obesity	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855	0.001	Beamer BA 1998	9792554	Pro12Ala variant			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Diabetes. 1998 Nov;47(11):1806-8			601487	5106	1	1998												
133032	Y	cardiovascular	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855	0.007	Doney AS, Fischer B, Leese G, Morris AD, Palmer CN	15486307	Pro12Ala and C1431T		coding sequence	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	caucasian type 2 diabetics		CNAP	5468	Hs.162646	myocardial infarction and stroke		Arteriosclerosis, thrombosis, and vascular biology. 2004 Dec;24(12):2403-7	Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study.	rs1805192,rs3856806	601487	5108	1	2004	 This study confirms the association of the Ala12 allele with reduced risk of myocardial infarction in a type 2 diabetic population and demonstrates that the T allele independently associates with an increased risk.											
133033	Y	obesity	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Valve R et al. 1999	10523018	Pro12Ala silent CAC478CAT polymorphism in exon 6			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	obese women		KGB	5468	Hs.162646	severe overweight and increased fat mass		The Journal of clinical endocrinology and metabolism. 1999 Oct;84(10):3708-12	Two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene are associated with severe overweight among obese women.		601487	5109	1	1999												
133026	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Eriksson JG 2003	12882888	Pro12Pro			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			Y Wang	5468	Hs.162646	birth length influence		Diabetes care. 2003 Aug;26(8):2476-7	Interactions between peroxisome proliferator-activated receptor gene polymorphism and birth length influence risk for type 2 diabetes.		601487	5102	1	2003												
133028		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Eftychi C 2004	14988278				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Canada|Europe	Y Wang	5468	Hs.162646			Diabetes. 2004 Mar;53(3):870-3	Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.		601487	5104	1	2004												
133029	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Caramori ML 2003	14633865				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			Y Wang	5468	Hs.162646	Complications		Diabetes. 2003 Dec;52(12):3010-3	The human peroxisome proliferator-activated receptor gamma2 (PPARgamma2) Pro12Ala polymorphism is associated with decreased risk of diabetic nephropathy in patients with type 2 diabetes.		601487	5105	1	2003												
133022		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Memisoglu A 2003	14514601	proline to alanine codon 12			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			Y Wang	5468	Hs.162646			Diabetes care. 2003 Oct;26(10):2915-7	Prospective study of the association between the proline to alanine codon 12 polymorphism in the PPARgamma gene and type 2 diabetes.		601487	5098	1	2003	 The results of this study provide further support for an inverse association between the PPARgamma variant 12Ala allele and risk of type 2 diabetes.											
133024		fasting insulin level	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Franks PW 2004	14681835	Pro12ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	caucasian		KGB	5468	Hs.162646			Metabolism:  clinical and experimental. 2004 Jan;53(1):6-Nov	Does peroxisome proliferator-activated receptor gamma genotype (Pro12ala) modify the association of physical activity and dietary fat with fasting insulin level?		601487	5100	1	2004												
133025		diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Gomez-Zumaquero JM 2003	14669172				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			Y Wang	5468	Hs.162646	Complications		Metabolism:  clinical and experimental. 2003 Dec;52(12):1648; author reply 1648-9	Pro12Ala polymorphism of the PPAR-gamma2 gene is related to increased levels of oxidized low-density lipoprotein (LDL) autoantibodies in patients with type 2 diabetes mellitus.		601487	5101	1	2003												
133018	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	3	3p25	PPARG	12304348	12450855		Muller YL 2003	12829658			5'promoter	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Arizona	KGB	5468	Hs.162646			Diabetes. 2003 Jul;52(7):1864-71	A functional variant in the peroxisome proliferator-activated receptor gamma2 promoter is associated with predictors of obesity and type 2 diabetes in Pima Indians.		601487	5094	1	2003	These data indicate that this promoter SNP, via its effect on PPARgamma2 expression, may also have functional consequences on PPARgamma2-activated pathways, and perhaps both the promoter SNP and the Pro12Ala contribute to PPARgamma2-related phenotypes.	Cohort 241 nondiabetic Pima Indians										
133019		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Ostgren CJ 2003	12923397	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Journal of hypertension. 2003 Sep;21(9):1657-62	Peroxisome proliferator-activated receptor-gammaPro12Ala polymorphism and the association with blood pressure in type 2 diabetes: skaraborg hypertension and diabetes project.		601487	5095	1	2003	 The common Pro12Ala polymorphism in PPARgamma is associated with lower diastolic blood pressure in male subjects with type 2 diabetes.											
133020		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3p25	PPARG	12304348	12450855		Sramkova D 2002	12079854				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Czechoslovakia	Y Wang	5468	Hs.162646			Annals of the New York Academy of Sciences. 2002 Jun;967:265-73	Is a Pro12Ala polymorphism of the PPARgamma2 gene related to obesity and type 2 diabetes mellitus in the Czech population?		601487	5096	1	2002												
133015	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Glucose Intolerance|Body Weight	3	3p25	PPARG	12304348	12450855		Lindi VI et al. 2002	12145174	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Finland	KGB	5468	Hs.162646			Diabetes. 2002 Aug;51(8):2581-6	Association of the Pro12Ala polymorphism in the PPAR-gamma2 gene with 3-year incidence of type 2 diabetes and body weight change in the Finnish Diabetes Prevention Study.		601487	5091	1	2002												
133016	Y	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	3	3p25	PPARG	12304348	12450855	0.0056	Landi et al., 2003	12839942	Pro 12 Ala		coding sequence	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Spanish	Spain	GAN (IARC) and GRG (University of Pisa)	5468	Hs.162646			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		601487	5092	1	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
133017	Y	essential hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Rodriguez-Esparragon FJ 2003	12923396				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Journal of hypertension. 2003 Sep;21(9):1649-55	Peroxisome proliferator-activated receptor-gamma2-Pro12Ala and endothelial nitric oxide synthase-4a/bgene polymorphisms are associated with essential hypertension.		601487	5093	1	2003	 Both analyzed polymorphisms were associated in a synergistic manner with hypertension. This effect manifested only in those subjects with normal homocysteine plasma values. Our findings suggest complex genotype-environmental interactions on hypertensive risk.	Control:223 normotensive matched controls;Case:235 subjects with arterial hypertension										
133012	Y	lower lipoprotein lipase activity	OTHER	OTH	Coronary Disease	3	3p25	PPARG	12304348	12450855		Schneider J et al. 2002	11872694				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Diabetes. 2002 Mar;51(3):867-70	The proline 12 alanine substitution in the peroxisome proliferator--activated receptor-gamma2 gene is associated with lower lipoprotein lipase activity in vivo.		601487	5088	1	2002												
133013	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Herrmann SM et al. 2002	12145184				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Germany	KGB	5468	Hs.162646			Diabetes. 2002 Aug;51(8):2653-7	Peroxisome proliferator-activated receptor-gamma2 polymorphism Pro12Ala is associated with nephropathy in type 2 diabetes: The Berlin Diabetes Mellitus (BeDiaM) Study.		601487	5089	1	2002												
133014	N	postprandial responses to glucose or fat tolerance tests	OTHER	OTH		3	3p25	PPARG	12304348	12450855	n	Poirier O et al. 2000	11001532				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Journal of molecular medicine (Berlin, Germany). 2000 ;78(6):346-51	The Pro12Ala polymorphism in the peroxisome proliferator-activated receptor gamma2 gene is not associated with postprandial responses to glucose or fat tolerance tests in young healthy subjects: the European Atherosclerosis Research Study II.		601487	5090	1	2000												
133007	Y	exercise-mediated changes of insulin resistance	METABOLIC	MET	Insulin Resistance	3	3p25	PPARG	12304348	12450855		Kahara T et al. 2003	12601634				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Metabolism:  clinical and experimental. 2003 Feb;52(2):209-12	PPARgamma gene polymorphism is associated with exercise-mediated changes of insulin resistance in healthy men.		601487	5083	1	2003	We conclude that  PPARgamma gene polymorphism may be a reliable indicator of whether exercise will have a beneficial effect as part of the treatment of insulin resistance syndrome.											
133009	Y	larger body mass	OTHER	OTH	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Lei HH et al. 2000	11079814				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Metabolism:  clinical and experimental. 2000 Oct;49(10):1267-70	Peroxisome proliferator-activated receptor gamma 2 Pro12Ala gene variant is strongly associated with larger body mass in the Taiwanese.		601487	5085	1	2000												
133010	Y	increased antilipolytic insulin sensitivity	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Stumvoll M et al. 2001	11289055				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Diabetes. 2001 Apr;50(4):876-81	Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 gene is associated with increased antilipolytic insulin sensitivity.		601487	5086	1	2001												
133003	Y	Increased plasma concentrations of total cholesterol	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias|Obesity	3	3p25	PPARG	12304348	12450855	0.01	Meirhaeghe A 2000	10702770	Pro12Ala variant			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		France	KGB	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2000 Feb;24(2):195-9			601487	5079	1	2000	 Our results suggest that genetic variability of PPARgamma2 affects body weight control and lipid homeostasis in humans and do not support a significant role for the PPARgamma2 Pro12Ala polymorphism in the aetiology of NIDDM. International Journal of Obesity (2000) 24, 195-199											
133005	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypercholesterolemia	3	3p25	PPARG	12304348	12450855		Zietz B et al. 2002	11928067				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	caucasian		KGB	5468	Hs.162646			Experimental and clinical endocrinology & diabetes. 2002 Apr;110(2):60-6	Pro12Ala polymorphism in the peroxisome proliferator-activated receptor-gamma2 (PPARgamma2) is associated with higher levels of total cholesterol and LDL-cholesterol in male caucasian type 2 diabetes patients.		601487	5081	1	2002												
133006		hypertension	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Obesity	3	3p25	PPARG	12304348	12450855		Chuang LM et al. 2001	11715069				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Japanese	China|Japan	KGB	5468	Hs.162646			Journal of molecular medicine (Berlin, Germany). 2001 Nov;79(11):656-64	Sibling-based association study of the PPARgamma2 Pro12Ala polymorphism and metabolic variables in Chinese and Japanese hypertension families: a SAPPHIRe study. Stanford Asian-Pacific Program in Hypertension and Insulin Resistance.		601487	5082	1	2001												
133000	Y	LDL-cholesterol	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias|Obesity	3	3p25	PPARG	12304348	12450855	0.004	Meirhaeghe A 2000	10702770	Pro12Ala variant		coding sequence	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	MONICA	France	KGB	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2000 Feb;24(2):195-9			601487	5076	1	2000	 Our results suggest that genetic variability of PPARgamma2 affects body weight control and lipid homeostasis in humans and do not support a significant role for the PPARgamma2 Pro12Ala polymorphism in the aetiology of NIDDM. International Journal of Obesity (2000) 24, 195-199	population-based study, n=1150										
133001	Y	waist circumference	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855	0.028	Cole SA 2000	10805513	Pro12Ala variant			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Texas	KGB	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):522-4			601487	5077	1	2000												
133002	Y	higher body mass index	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855	0.015	Cole SA 2000	10805513	Pro12Ala variant			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Texas	KGB	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):522-4			601487	5078	1	2000												
132995	N	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855	n	Bluher M 2002	11916624	Pro12Ala. Ala12Ala. C161T. and T161T			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			European journal of endocrinology. 2002 Apr;146(4):545-51			601487	5071	1	2002	 The PPARgamma-2 genotype was not associated with an increased or reduced risk of the occurrence of CHD and can therefore not be regarded as an independent risk factor for CHD in patients with diabetes mellitus.											
132996	Y	higher levels of serum leptin	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855	0.022	Cole SA 2000	10805513	Pro12Ala variant			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Texas	KGB	5468	Hs.162646			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):522-4			601487	5072	1	2000												
132998	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855	0.038	Evans D 2001	11409297	genotype A12A/c1431c			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Experimental and clinical endocrinology & diabetes. 2001 ;109(3):151-4			601487	5074	1	2001												
132992	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia|Genetic Predisposition to Disease	6	6p21.2-p21.1	PPARD	35418312	35503933		Skogsberg, J.  et al. 2003	14641801				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Journal of internal medicine. 2003 Dec;254(6):597-604	Peroxisome proliferator activated receptor delta genotype in relation to cardiovascular risk factors and risk of coronary heart disease in hypercholesterolaemic men.		600409	23265	2	2003	 PPARD plays a role in cholesterol metabolism in man.	Control:1,160 hypercholesterolemic individuals who remained free of coronary heart disease;Case:580 hypercholesterolemi cases with incident coronary heart disease from the West of Scotland Coronary Prevention Study:Scotland										
132993		triglycerides; atherosclerosis, coronary; lipoprotein	METABOLIC	MET	Coronary Artery Disease	6	6p21.2-p21.1	PPARD	35418312	35503933		Chen, S.  et al. 2004	15128052				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Pharmacogenetics. 2004 Jan;14(1):61-71	Effects of PPARalpha, gamma and delta haplotypes on plasma levels of lipids, severity and progression of coronary atherosclerosis and response to statin therapy in the lipoprotein coronary atherosclerosis study.		600409	23266	2	2004	No significant associations between PPARA haplotypes and the phenotypes or significant interactions between PPAR haplotypes and the occurrence of new clinical events were detected. PPARD and PPARG haplotypes are independent determinants of plasma levels of lipids, severity of coronary atherosclerosis and its response to therapy.	Cohort 372 Lipoprotein and Coronary Atherosclerosis Study subjects 	fluvastatin									
132994		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	6	6p21.2-p21.1	PPARD	35418312	35503933		McGreavey, L. E.  et al. 2005	16141797				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Pharmacogenetics and genomics. 2005 Oct;15(10):713-21	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.		600409	25450	2	2005	 Our study confirmed the reduction in risk of colorectal cancer with regular NSAID use (odds ratio (OR) = 0.73, 95% confidence interval (CI) (0.56, 0.95)) but showed that none of the polymorphic genes studied appeared to modify the protective effect of regular NSAID use.		nonsteroidal anti-inflammatory (NSAID)									
132989	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	6	6p21.2-p21.1	PPARD	35418312	35503933		Shin, H. D.  et al. 2004	14988273				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Diabetes. 2004 Mar;53(3):847-51	Genetic Polymorphisms in Peroxisome Proliferator-Activated Receptor delta Associated With Obesity		600409	13291	2	2004	The genetic information about PPAR-delta from this study would be useful for further genetic study of obesity, diabetes, and other metabolic diseases.	Case subjects with type 2 diabetes;Control normal control subjects										
132990		diabetes, type 2; hypertension; metabolic syndrome	METABOLIC	MET		6	6p21.2-p21.1	PPARD	35418312	35503933		Yan, Z. C.  et al. 2005	16053787	(+ 294T/C )			Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jun;33(6):529-33	[PPARdelta + 294T/C gene polymorphism related to plasma lipid, obesity and left ventricular hypertrophy in subjects with metabolic syndrome]		600409	13292	2	2005	 It is indicated that PPARdelta + 294T/C gene polymorphism in subjects with MS may be involved in the occurrence of obesity and dyslipidemia. MS patients with C allele had a predominant LVH than subjects with TT genotype.											
132991		cholesterol, HDL; triglycerides; diabetes, type 2; cholesterol, LDL	METABOLIC	MET	Atherosclerosis|Diabetes Mellitus, Type 2	6	6p21.2-p21.1	PPARD	35418312	35503933		Gouni-Berthold, I.  et al. 2005	16285997				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDPinfo	5467	Hs.485196			Atherosclerosis. 2005 Dec;183(2):336-41	The peroxisome proliferator-activated receptor delta +294T/C polymorphism in relation to lipoprotein metabolism in patients with diabetes mellitus type 2 and in non-diabetic controls.		600409	23264	2	2005	 The data suggest that the PPARdelta +294T/C polymorphism has no influence on plasma lipoprotein concentrations, body mass index or atherosclerotic disease either in healthy subjects or in patients with DM-2, both in males and females.											
132986		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.31	POU5F1	31240092	31246430		Chang, Y. T.  et al. 2003	12653732				POU domain, class 5, transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002701.3	Chinese	China|Taiwan	CDC GDPinfo	5460	Hs.249184			The British journal of dermatology. 2003 Mar;148(3):418-23	A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.		164177	25441	2	2003	 HLA-Cw6 remains the most significant susceptibility gene in Chinese patients with psoriasis. However, the role of the CDSN gene in the pathogenesis of psoriasis deserves further scrutiny.	Case:105 Chinese patients with psoriasis vulgaris;Control:160 control subjects of similar ages										
132987		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	17	17q12-q21.1	PPARBP	34814068	34861030		Shaat, N.  et al. 2004	15095040				PPAR binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004774.2		Scandinavia	CDC GDPinfo	5469	Hs.462956			Diabetologia. 2004 May;47(5):878-84	Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus.		604311	25449	2	2004	Gestational diabetes mellitus was associated with the presence of GAD65Ab in both study groups. Scandinavian women with gestational diabetes may share some genetic features with Type 1 diabetes. In addition, Arabian women with gestational diabetes are more insulin resistant than Scandinavian women with gestational diabetes and with the same BMI.	Case:500 unrelated women with gestational diabetes (400 Scandinavian and 100 Arabian);Control:550 unrelated pregnant non-diabetic control women (428 Scandinavian and 122 Arabian) matched for ethnicity										
132988	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia|Genetic Predisposition to Disease	6	6p21.2-p21.1	PPARD	35418312	35503933	0.049	Skogsberg JJ Intern Med. 2003 Dec;254(6):597-604.	14641801	Peroxisome proliferator activated receptor delta genotype in relation to cardiovascular risk factors and risk of coronary heart disease in hypercholesterolaemic men.	increased plasma low-density lipoprotein cholesterol (LDL-C)	5'promoter	Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			KGB	5467	Hs.485196	cardiovascular risk factors		Journal of internal medicine. 2003 Dec;254(6):597-604	Peroxisome proliferator activated receptor delta genotype in relation to cardiovascular risk factors and risk of coronary heart disease in hypercholesterolaemic men.		600409	5070	1	2003	 PPARD plays a role in cholesterol metabolism in man.	Control:1,160 hypercholesterolemic individuals who remained free of coronary heart disease;Case:580 hypercholesterolemi cases with incident coronary heart disease from the West of Scotland Coronary Prevention Study:Scotland										
132982		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p11	POU1F1	87391472	87408427			16214911				POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000306.1		Europe	CDC GDPinfo	5449	Hs.591654			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2316-25	Genetic variation in the growth hormone synthesis pathway in relation to circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3, and breast cancer risk: results from theEuropean prospective investigation into cancer and nu		173110	26510	2	2005												
132983	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	POU2F1	165456766	165651983		Taguchi, K.  et al. 2005	15786443				POU domain, class 2, transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002697.2			CDC GDPinfo	5451	Hs.493649			Annals of neurology. 2005 Apr;57(4):585-8	Identification of hippocampus-related candidate genes for Alzheimer's disease.		164175	19020	2	2005	Our results suggest that POU2F1 is a candidate gene for AD.	Control:376:controls;Case:376 Alzheimer's disease cases										
132984	Y	deafness	OTHER	OTH	Deafness	X	Xq21.1	POU3F4	82649940	82651431		de Kok YJ et al. 1995	7839145				POU domain, class 3, transcription factor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000307.1			KGB	5456	Hs.2229			Science. 1995 Feb;267(5198):685-8	Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.		300039	5061	1	1995												
132985	N	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.31	OTF3	31240092	31242006	n	Pablos JL et al. 1995	8563733				POU domain, class 5, transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018489			KGB	5460	Hs.491060			Lupus. 1995 Oct;4(5):390-2	Lack of association between the MHC linked OTF3 gene and systemic lupus erythematosus.		164177	5062	1	1995												
132979		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON3	94827119	94863623		Oliveira, S. A.  et al. 2004	14996478				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2		Brazil	CDC GDPinfo	5446	Hs.440967			International journal of cardiology. 2004 Mar;94(1):73-7	PON1 M/L55 mutation protects high-risk patients against coronary artery disease.		602720	25439	2	2004	In contrast to traditional coronary risk factors, the PON1 M/L mutation can be considered predictive of protection against CAD.	Case:352 high-risk patients with angiographically defined:CAD;Control:380 age- and sex-matched control subjects										
132980		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON3	94827119	94863623		Su, S. Y.  et al. 2005	16117861				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Chinese	China	CDC GDPinfo	5446	Hs.440967			Chinese medical journal. 2005 Jul;118(14):1167-74	Paraoxonase gene cluster variations associated with coronary heart disease in Chinese Han women.		602720	25440	2	2005	 This association study suggested that lower plasma PON1 activity increased the risk of CHD in Chinese women, which may be mediated by the higher frequency of -107T allele in cases. Haplotype analyses indicated that there might be some synergistic effects between the PON1 -107C > T and PON2 S311C polymorphisms.											
132981	Y	combined pituitary hormone deficiency	METABOLIC	MET	Hypopituitarism	3	3p11	POU1F1	87391472	87408427		Turton, J. P.  et al. 2005	15928241				POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000306.1			CDC GDPinfo	5449	Hs.591654			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4762-70	Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.		173110	19019	2	2005	 Our data suggest that the phenotype associated with POU1F1 mutations may be more variable, with the occasional preservation of TSH secretion. Additionally, our data revealed POU1F1 mutations in three patients who were diagnosed as having ACTH deficiency but who, on further evaluation, were found to have normal cortisol secretion. Hence, elucidation of the genotype led to further evaluation of the phenotype, with the cessation of cortisol replacement that had been commenced unnecessarily. These data reflect the importance of mutational analysis in patients with CPHD.	Cohort 129 individuals with combined pituitary hormone deficiency 										
132975		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON3	94827119	94863623		Wang, X.  et al. 2003	12588779				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Chinese	China	CDC GDPinfo	5446	Hs.440967			Arteriosclerosis, thrombosis, and vascular biology. 2003 Feb;23(2):328-34	Extensive association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese Han population		602720	25435	2	2003	 This extensive association study has identified the PON1 -162G/A and R160G polymorphisms to be independently associated with CHD in Chinese Han population and warrants additional study to elucidate the biological mechanism.	Case:474 Chinese Han male coronary heart disease patients;Control:475:controls										
132976		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON3	94827119	94863623		Robertson, K. S.  et al. 2003	14636952				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2		London	CDC GDPinfo	5446	Hs.440967			Biochimica et biophysica acta. 2003 Nov;1639(3):203-12	Human paraoxonase gene cluster polymorphisms as predictors of coronary heart disease risk in the prospective Northwick Park Heart Study II.		602720	25436	2	2003	These data demonstrate the importance of stratifying by environmental factors and the use of multiple SNPs for genetic analysis.	Case coronary heart disease patients from the prospective Northwick Park Heart Study II;Control:controls	smoking (tobacco)									
132977		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON3	94827119	94863623		Wang, X. L.  et al. 2005	16078734				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Chinese		CDC GDPinfo	5446	Hs.440967			Yi chuan xue bao. 2005 Jul;32(7):675-81	[Association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese]		602720	25437	2	2005												
132978		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON3	94827119	94863623			16319130				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2			CDC GDPinfo	5446	Hs.440967			Human molecular genetics. 2006 Jan;15(1):77-85	Polymorphisms in the PON gene cluster are associated with Alzheimer disease		602720	25438	2	2005												
132971		multiple chemical sensitivity	PHARMACOGENOMIC	PHARM	Multiple Chemical Sensitivity|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		McKeown-Eyssen, G.  et al. 2004	15256524				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			International journal of epidemiology. 2004 Oct;33(5):971-8	Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1,PON2 and MTHFR.		602447	27179	2	2004	 A genetic predisposition for MCS may involve altered biotransformation of environmental chemicals. The CYP2D6 enzyme activates and inactivates toxins; the NAT2 enzyme bioactivates arylamines to protein-binding metabolites. A gene-gene interaction between CYP2D6 and NAT2 suggested that rapid metabolism for both enzymes may confer substantially elevated risk (OR = 18.7, P = 0.002). Our finding parallels others' observation of a link between PON1 heterozygosity and neurological symptoms in Gulf War syndrome. This first demonstration of genetic variation in drug-metabolizing enzymes in association with MCS requires replication. However, it suggests new research directions on genetically variable toxin pathways that might be important in MCS.	Control:162:controls;Case:203 female Caucasian multiple chemical sensitivity:cases										
132973		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	7	7q21.3	PON2	94872109	94902320		Zee, R. Y.  et al. 2002	12082592				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		602447	28664	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
132974		paraoxonase	NORMALVARIATION	NV		7	7q21.3	PON3	94827119	94863623		Campo, S.  et al. 2004	14757195				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Italian		CDC GDPinfo	5446	Hs.440967			Mutation research. 2004 Feb;546(2-Jan):75-80	Identification of paraoxonase 3 gene (PON3) missense mutations in a population of southern Italy.		602720	19016	2	2004	The effect of these variants on the metabolic activity of paraoxonase 3 remains to be further evaluated.	Cohort 1,143 blood donors southern Italy 										
132968		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Tobin, M. D.  et al. 2004	15039125				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			European heart journal. 2004 Mar;25(6):459-67	Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study		602447	27176	2	2004	 We report associations of two polymorphisms and haplotypes at two loci with risk of MI that warrants testing in future studies. Furthermore, we demonstrate the application of a multilocus assay in the setting of a large association study and the additional benefit gained from the study of haplotypes to identify variants influencing risk of coronary heart disease.	Control:505:controls;Case:547 acute myocardial infarct cases										
132969		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Hegele, R. A.  et al. 2001	11512679				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	5445	Hs.530077			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		602447	27177	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
132970		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	7	7q21.3	PON2	94872109	94902320		Obineche, E. N.  et al. 2001	11768721				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		United Arab Emirates	CDC GDPinfo	5445	Hs.530077			Hypertension research. 2001 Nov;24(6):635-9	An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.		602447	27178	2	2001	In conclusion, our results suggest an association between LVH and the C825T allele of the G-protein beta3 subunit gene.	Control:115 age- and sex-matched controls (23 hypertensives and 92 normotensives) who did not present with LVH, from United Arab Emirati population;Case:98 subjects with LVH (78 hypertensives and 20 normotensives) from United Arab Emirati population										
132965		hearing loss/deafness	OTHER	OTH	Hearing Loss, Noise-Induced|Occupational Diseases|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Fortunato, G.  et al. 2004	15345661				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Clinical chemistry. 2004 Nov;50(11):2012-8	Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss		602447	23261	2	2004	 Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day.	Case male workers from an aircraft factory with noise-induced hearing loss;Control:controls										
132966		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON2	94872109	94902320		Che, D.  et al. 2002	15776585				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Senegalese		CDC GDPinfo	5445	Hs.530077			Dakar Med. 2002 ;47(1):18-21	[Genetic polymorphism of pyruvate dehydrogenase kinase 4 (PDK4), paraoxonase 2 (PON2), and fatty acid binding protein 2 (FABP2) in the NIDDM population of Senegal]		602447	25434	2	2002	These results suggest that none of these gene variants is a major NIDDM predisposing locus for the negroid population of Senegal.	Case black subjects with non-insulin dependent diabetes:mellitus:Dakar, Senegal;Control subjects without diabetes										
132967		intima-media thickness	CARDIOVASCULAR	CARD	Helicobacter Infections|Cerebrovascular Accident|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	7	7q21.3	PON2	94872109	94902320		Markus, H.  et al. 2001	11692002				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	UK African Caribbean	Africa|Caribbean Region|Great Britain	CDC GDPinfo	5445	Hs.530077			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2465-71	Increased common carotid intima-media thickness in UK African Caribbeans and its relation to chronic inflammation and vascular candidate gene polymorphisms		602447	26509	2	2001	 Carotid IMT is increased in UK African Caribbeans even after controlling for conventional risk factors. There are highly significant ethnic differences in the distribution of many potential cerebrovascular candidate genes. Although those we examined did not explain the ethnic differences in IMT, other genetic predispositions or environmental exposures could account for these differences.	Cohort 291 men (202 Caucasian and 89 African Caribbean) Britain 										
132961		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Wang, X. L.  et al. 2005	16078734				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese		CDC GDPinfo	5445	Hs.530077			Yi chuan xue bao. 2005 Jul;32(7):675-81	[Association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese]		602447	23257	2	2005												
132962		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON2	94872109	94902320			16319130				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Human molecular genetics. 2006 Jan;15(1):77-85	Polymorphisms in the PON gene cluster are associated with Alzheimer disease		602447	23258	2	2005												
132963		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON2	94872109	94902320		Oliveira, S. A.  et al. 2004	14996478				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Brazil	CDC GDPinfo	5445	Hs.530077			International journal of cardiology. 2004 Mar;94(1):73-7	PON1 M/L55 mutation protects high-risk patients against coronary artery disease.		602447	23259	2	2004	In contrast to traditional coronary risk factors, the PON1 M/L mutation can be considered predictive of protection against CAD.	Case:352 high-risk patients with angiographically defined:CAD;Control:380 age- and sex-matched control subjects										
132964		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON2	94872109	94902320		Su, S. Y.  et al. 2005	16117861				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese	China	CDC GDPinfo	5445	Hs.530077			Chinese medical journal. 2005 Jul;118(14):1167-74	Paraoxonase gene cluster variations associated with coronary heart disease in Chinese Han women.		602447	23260	2	2005	 This association study suggested that lower plasma PON1 activity increased the risk of CHD in Chinese women, which may be mediated by the higher frequency of -107T allele in cases. Haplotype analyses indicated that there might be some synergistic effects between the PON1 -107C > T and PON2 S311C polymorphisms.											
132957		atherosclerosis, coronary; hypercholesterolemia	CARDIOVASCULAR	CARD		7	7q21.3	PON2	94872109	94902320		Acuna, M.  et al. 2004	15359538				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Human biology; an international record of research. 2004 Apr;76(2):299-305	Genetic variants of the paraoxonases (PON1 and PON2) in the Chilean population		602447	23253	2	2004	Finally, our data indicate ethnic-group-dependent genetic differences in the vulnerability to toxic organophosphorus.	Cohort hospital samples taken from the northern and eastern parts of Santiago, Chile Santiago, Chile 										
132958		nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	7	7q21.3	PON2	94872109	94902320			16080611				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Moscow	CDC GDPinfo	5445	Hs.530077			Genetika. 2005 Jun;41(6):844-9	[A search for association between the polymorphic markers of PON1 and PON2 genes and diabetic nephropathy in patients with type I diabetes mellitus]		602447	23254	2	2005												
132960		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON2	94872109	94902320		Robertson, K. S.  et al. 2003	14636952				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		London	CDC GDPinfo	5445	Hs.530077			Biochimica et biophysica acta. 2003 Nov;1639(3):203-12	Human paraoxonase gene cluster polymorphisms as predictors of coronary heart disease risk in the prospective Northwick Park Heart Study II.		602447	23256	2	2003	These data demonstrate the importance of stratifying by environmental factors and the use of multiple SNPs for genetic analysis.	Case coronary heart disease patients from the prospective Northwick Park Heart Study II;Control:controls	smoking (tobacco)									
132953		Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular	NEUROLOGICAL	NEUR		7	7q21.3	PON2	94872109	94902320		Zhang, Y.  et al. 2005	16185677				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese		CDC GDPinfo	5445	Hs.530077			Clinica chimica acta; international journal of clinical chemistry. 2006 Mar;365(2-Jan):98-103	Detecting the polymorphisms of paraoxonase (PON) cluster in Chinese Han population based on a rapid method.		602447	23249	2	2005	 This method represents a simple, economical and time-saving technique to simultaneously detect 4 polymorphisms in the PON cluster. It provides a useful application to enable further study of the relationship between PON1 and PON2 and their role in atherosclerosis.											
132954	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON2	94872109	94902320		Hong, S. H.  et al. 2001	11676977				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Korea	CDC GDPinfo	5445	Hs.530077			Clinical biochemistry. 2001 Sep;34(6):475-81	Genetic variations of the paraoxonase gene in patients with coronary artery disease.		602447	23250	2	2001	 Our study suggested a gene-gene interaction between the PON1 and PON2 polymorphisms for CAD risk. However, we could not exclude the possibility that these polymorphisms may have linkage disequilibrium with a tightly linked PON3 locus or significant atherosclerotic alleles of nearby genes. Family studies may, therefore, help to confirm the role of the PON polymorphism for CAD risk.	Control:113 age-matched normal controls;Case:190 patients with coronary artery disease										
132956		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis	7	7q21.3	PON2	94872109	94902320		Mackness, B.  et al. 2002	12151850				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Current opinion in lipidology. 2002 Aug;13(4):357-62	The paraoxonase gene family and coronary heart disease.		602447	23252	2	2002	Although advances have been made in research into the paraoxonase family and atherosclerosis, much more needs to be done.											
132950	Y	bone density	METABOLIC	MET	Osteoporosis	7	7q21.3	PON2	94872109	94902320		Yamada, Y.  et al. 2003	12955589				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Japanese	Japan	CDC GDPinfo	5445	Hs.530077			Journal of human genetics. 2003 ;48(9):469-75	Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese.		602447	23246	2	2003	Our results suggest that the paraoxonase 1 and 2 genes are candidate loci for reduced bone mass in postmenopausal Japanese women.	Cohort community-dwelling Japanese (1,087-1,094 women and 1,112-1,125 men) randomly recruited to a population-based prospective cohort study of aging and age-related diseases 										
132951	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON2	94872109	94902320		Wheeler, J. G.  et al. 2004	15001326				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Lancet. 2004 Feb;363(9410):689-95	Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls:meta-analysis of 43 studies.		602447	23247	2	2004	In contrast to previous suggestions, this meta-analysis shows no significant association of CHD with the L55M or T(-107)C polymorphism in PON1 or with the S311C polymorphism in PON2. The weak overall association between the Q192R polymorphism and CHD is of uncertain relevance, particularly since there was no significant association among the larger studies which should be less prone to selective publication. These findings reinforce the need for much larger and more rigorous investigations of the genetic determinants of complex diseases than is now customary, as well as for regularly updated systematic appraisals of such studies to help improve interpretation and prioritise hypotheses.	Case:11,212 coronary heart disease patients from 43 studies;Control:12,786 controls from 43 studies										
132952	Y	preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature	7	7q21.3	PON2	94872109	94902320		Chen, D.  et al. 2004	15232408				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		China	CDC GDPinfo	5445	Hs.530077			Epidemiology (Cambridge, Mass). 2004 Jul;15(4):466-70	Polymorphisms of the paraoxonase gene and risk of preterm delivery.		602447	23248	2	2004	 Infant PON1 RR and PON2 CC genotypes were associated with preterm delivery in our study population, which suggests a possible role for human paraoxonase variability in the etiology of preterm delivery.	Control:105 term infants;Case:80 preterm infants										
132947	Y	preterm delivery	REPRODUCTION	REP		7	7q21.3	PON2	94872109	94902320		Wu, B. Y.  et al. 2003	12939804				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Yi chuan xue bao. 2003 Jun;30(6):577-83	[Associations of Rsa I polymorphism at the 5' flanking region of CYP2E1 and PON2 148 polymorphism in neonates with preterm delivery]		602447	23243	2	2003	In conclusion, Rsa I polymorphism at the 5' flanking region of CYP2E1 in neonates is not associated with preterm delivery, however, PON2 148 polymorphism in neonates is significantly associated with preterm delivery. Furthermore, the gene interaction between Rsa I polymorphism at the 5' flanking region of CYP2E1 and PON2 148 polymorphism in neonates is significantly associated with preterm delivery.	Case singleton preterm mother-neonate pairs;Control singleton term live born mother-neonate pairs										
132948		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3	PON2	94872109	94902320		Letellier, C.  et al. 2002	12442067				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Diabetes & metabolism. 2002 Sep;28(4 Pt 1):297-304	Serum paraoxonase activity and paraoxonase gene polymorphism in type 2 diabetic patients with or without vascular complications.		602447	23244	2	2002	 The difference in allele frequency for the PON(1) Q/R 192 gene polymorphism may be the cause of the low paraoxonase activity observed in type 2 diabetes mellitus. Further studies need to be conducted to elucidate the role of the enzyme in the development of vascular complications in diabetes.	Case:71 diabetics with vascular complications;Control:96 diabetic patients without vascular complications										
132949		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Chen, Q.  et al. 2002	12454802				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		United States	CDC GDPinfo	5445	Hs.530077			American journal of human genetics. 2003 Jan;72(1):13-22	Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation (WISE) study.		602447	23245	2	2002	Our data indicate that the severity of CAD, in terms of the number of diseased vessels, may be affected by common genetic variation in the PON gene cluster, on chromosome 7.	Cohort 711 subjects (589 whites and 122 blacks) from the Women's Ischemia Syndrome Evaluation (WISE) study 										
132944	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipoproteinemia Type II	7	7q21.3	PON2	94872109	94902320		Leus, F. R.  et al. 2001	11257265				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Atherosclerosis. 2001 Feb;154(3):641-9	PON2 gene variants are associated with clinical manifestations of cardiovascular disease in familial hypercholesterolemia patients.		602447	19006	2	2001	Our data indicate that the common PON(2) polymorphism is associated with clinical manifestations of CVD in FH patients. While PON(2) Ser(311) carriers seem to be at risk, subjects with the Cys/Cys(311) genotype are likely to be protected against the development of premature CVD.	Case:114 patients with familial hypercholesterolemia;Control:201 healthy normolipidemic blood donors;Case:83 patients with familial hypercholesterolemia and definite clinical manifestations of CVD										
132945	Y	diabetes, type 2; stroke, ischemic	METABOLIC	MET		7	7q21.3	PON2	94872109	94902320		Wang, X.  et al. 2003	12778447				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese		CDC GDPinfo	5445	Hs.530077			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):215-9	[The association of paraoxonase 2 gene C311S variant with ischemic stroke in Chinese type 2 diabetes mellitus patients]		602447	19011	2	2003	 The above data indicate that the polymorphism at codon 311(Cys --> Ser)in the PON2 gene is associated with ischemic morbidity in Chinese T2DM patients and C allele might be a risk factor.	Control:117 non-diabetic controls;Case:279 Chinese subjects (including 162 T2DM with or without ischemic stroke										
132946	Y	preterm delivery	REPRODUCTION	REP		7	7q21.3	PON2	94872109	94902320		Liang, H. Y.  et al. 2002	12561466				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Yi chuan xue bao. 2002 Oct;29(10):847-53	[Association of CYP2E1 of PON2311 polymorphisms in neonates with preterm]		602447	23242	2	2002	In conclusion, Rsa I polymorphism in the 5'-flanking region of CYP2E1 in neonates is not associated with preterm, however, PON2311 polymorphism in neonates is significantly associated with preterm. Furthermore, the gene interaction between Rsa I polymorphism in the 5'-flanking region of CYP2E1 and PON2311 polymorphism in neonates is significantly associated with preterm.	Case live born mother-neonate preterms;Control live born mother-neonate term controls										
132940	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Shi, J.  et al. 2004	14741412	Codon 311 (Cys --> Ser)			Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese		CDC GDPinfo	5445	Hs.530077			Brain research  Molecular brain research. 2004 Jan;120(2):201-4	Possible association between Cys311Ser polymorphism of paraoxonase 2 gene and late-onset Alzheimer's disease in Chinese.		602447	13267	2	2004	These results suggested that the PON2 polymorphism might be a risk factor for LOAD independent of ApoE epsilon4 status in Chinese.	Case:165 Chinese patients with sporadic late-onset Alzheimer's disease;Control:174:controls										
132942	Y	preterm delivery	REPRODUCTION	REP		7	7q21.3	PON2	94872109	94902320		Liang, H. Y.  et al. 2002	16135439				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Yi chuan. 2002 Sep;24(5):515-8	[Association of PON2 gene polymorphisms in neonates with preterm]		602447	13271	2	2002	Results from this research that both PON2148 polymorphism and PON2311 polymorphism in neonates are significantly associated with preterm respectively.											
132943	Y	diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Mackness, B.  et al. 2005	16164576	Codon 311 (Cys --> Ser)			Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Journal of internal medicine. 2005 Oct;258(4):363-8	The paraoxonase-2-310 polymorphism is associated with the presence of microvascular complications in diabetes mellitus.		602447	13272	2	2005	 PON 2 could be directly involved in protecting critical enzymes or organelles against oxidative damage; PON2 may thus predispose to the development of microvascular complications.											
132937	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q21.3	PON2	94872109	94902320		Pinizzotto, M.  et al. 2001	11206400				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Diabetologia. 2001 Jan;44(1):104-7	Paraoxonase2 polymorphisms are associated with nephropathy in Type II diabetes		602447	13258	2	2001	The paraoxonase2 gene polymorphisms were significantly associated with diabetic nephropathy independent of traditional risk factors in Type II diabetic patients. The susceptibility to diabetic nephropathy was intensified by the degree of obesity. Pathophysiological pathways should be investigated and could be involved in insulin resistance or lipids metabolism or both.	Case:147 Swiss patients with Type II diabetes and confirmed:neuropathy;Control:152 Swiss patients with Type II diabetes and no confirmed neuropathy										
132938	Y	Alzheimer's disease; dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Janka, Z.  et al. 2002	11803456	Codon 311 (Cys --> Ser)			Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Molecular psychiatry. 2002 ;7(1):110-2	Codon 311 (Cys --> Ser) polymorphism of paraoxonase-2 gene is associated with apolipoprotein E4 allele in both Alzheimer's and vascular dementias.		602447	13260	2	2002	Our results indicate that the PON2*S and apoE4 alleles have interactive effect on the development of the two most common forms of dementias AD and VD, and further support the hypothesis that cardiovascular factors contribute to the development of AD.	Case Alzheimer's disease and vascular dementia patients;Control not specified in abstract		PON2	S	APOE	4			Y		Alzheimer's and vascular dementia
132939	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Pan, J. P.  et al. 2002	12433026				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Taiwan	CDC GDPinfo	5445	Hs.530077			Zhonghua yi xue za zhi. 2002 Sep;65(9):415-21	The risk of coronary artery disease in population of Taiwan is associated with Cys-Ser 311 polymorphism of human paraoxonase (PON)-2 gene		602447	13261	2	2002	 Our data implicate that the genotypic variation at codon 311 of PON2 contributes to the susceptibility of CAD in the population of Taiwan.	Control:337 unrelated, CAD-free control subjects (249 male and 88 female);Case:364 unrelated, angiographically proved CAD-positive patients (338 male and 26 female):Taiwan										
132934	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipoproteinemia Type II	7	7q21.3	PON2	94872109	94902320		Leus FR et al. 2001	11257265				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			KGB	5445	Hs.530077			Atherosclerosis. 2001 Feb;154(3):641-9	PON2 gene variants are associated with clinical manifestations of cardiovascular disease in familial hypercholesterolemia patients.		602447	5058	1	2001	Our data indicate that the common PON(2) polymorphism is associated with clinical manifestations of CVD in FH patients. While PON(2) Ser(311) carriers seem to be at risk, subjects with the Cys/Cys(311) genotype are likely to be protected against the development of premature CVD.	Case:114 patients with familial hypercholesterolemia;Control:201 healthy normolipidemic blood donors;Case:83 patients with familial hypercholesterolemia and definite clinical manifestations of CVD										
132935	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	7	7q21.3	PON2	94872109	94902320		Martinelli N 2004	14984433				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			KGB	5445	Hs.530077			European journal of clinical investigation. 2004 Jan;34(1):14-20	Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardial infarction.		602447	5059	1	2004	 In CAD subjects, a proportion of the risk of MI may be influenced by the interaction between smoking and a polymorphism in the antioxidant enzyme PON2.	Control:272 coronary artery disease free subjects;Case:618 coronary artery disease subjects	smoking (tobacco)									
132936	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Shi J 2004	14741412				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			KGB	5445	Hs.530077			Brain research  Molecular brain research. 2004 Jan;120(2):201-4	Possible association between Cys311Ser polymorphism of paraoxonase 2 gene and late-onset Alzheimer's disease in Chinese.		602447	5060	1	2004	These results suggested that the PON2 polymorphism might be a risk factor for LOAD independent of ApoE epsilon4 status in Chinese.	Case:165 Chinese patients with sporadic late-onset Alzheimer's disease;Control:174:controls										
132930	Y	bone mineral density (BMD)	METABOLIC	MET	Osteoporosis	7	7q21.3	PON2	94872109	94902320	P <0.0001	Yamada Y et al 2003	12955589	959GC (Cys311Ser) SNP of PON2	Mackness et al. (2000) showed that the 959GC (Cys311Ser) SNP of PON2 also affects the serum activity of PON1	coding sequence	Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	post menopausal Japanese women	Japan		5445	Hs.530077			Journal of human genetics. 2003 ;48(9):469-75	Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese.		602447	5054	1	2003	Our results suggest that the paraoxonase 1 and 2 genes are candidate loci for reduced bone mass in postmenopausal Japanese women.	Cohort community-dwelling Japanese (1,087-1,094 women and 1,112-1,125 men) randomly recruited to a population-based prospective cohort study of aging and age-related diseases										
132931	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q21.3	PON2	94872109	94902320		Pinizzotto M et al. 2001	11206400				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			KGB	5445	Hs.530077			Diabetologia. 2001 Jan;44(1):104-7	Paraoxonase2 polymorphisms are associated with nephropathy in Type II diabetes.		602447	5055	1	2001	The paraoxonase2 gene polymorphisms were significantly associated with diabetic nephropathy independent of traditional risk factors in Type II diabetic patients. The susceptibility to diabetic nephropathy was intensified by the degree of obesity. Pathophysiological pathways should be investigated and could be involved in insulin resistance or lipids metabolism or both.	Case:147 Swiss patients with Type II diabetes and confirmed:neuropathy;Control:152 Swiss patients with Type II diabetes and no confirmed neuropathy										
132933	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON2	94872109	94902320		Sanghera DK et al. 1998	9443862				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Singapore|India	KGB	5445	Hs.530077			American journal of human genetics. 1998 Jan;62(1):36-44	DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease.		602447	5057	1	1998												
132927		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	7	7q21.3	PON1	94764923	94791780		Navarro-Lopez, F.   2002	11975906				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		168820	28572	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
132928		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	7	7q21.3	PON1	94764923	94791780		Zee, R. Y.  et al. 2002	12082592				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		168820	28663	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
132929	Y	coronary artery disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320	P=.018	Chen Q 2003	12454802	PON2 codon 311 Cys/Cys			Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	patients from the Women's Ischemia Syndrome Evaluation study	United States		5445	Hs.530077			American journal of human genetics. 2003 Jan;72(1):13-22			602447	5053	1	2003												
132924		blood pressure, arterial	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Sass, C.  et al. 2004	15076187				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		168820	28309	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
132925		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Warpeha, K. M.  et al. 2003	12724690				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		168820	28310	2	2003	Review article											
132926		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	7	7q21.3	PON1	94764923	94791780		Pallaud, C.  et al. 2001	11341749				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		France|Italy	CDC GDPinfo	5444	Hs.370995			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		168820	28394	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
132921		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.3	PON1	94764923	94791780		van Aalst-Cohen, E. S.  et al. 2005	16030523				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		168820	27983	2	2005			alcohol beta blockers body mass smoking (tobacco)									
132922		lipid metabolism	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Pallaud, C.  et al. 2001	11714857				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		168820	28251	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
132923		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Esfandiary, H.  et al. 2005	15774926				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		168820	28252	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
132918		longevity	AGING	AGE		7	7q21.3	PON1	94764923	94791780		Xia, Y.  et al. 2003	12889841				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	French		CDC GDPinfo	5444	Hs.370995			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		168820	27598	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
132919	Y	non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	7	7q21.3	PON1	94764923	94791780		Kerridge, I.  et al. 2002	12139735				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		168820	27599	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
132920		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Lincz, L. F.  et al. 2004	15136237				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Australian		CDC GDPinfo	5444	Hs.370995			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		168820	27600	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
132915		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	7	7q21.3	PON1	94764923	94791780		Obineche, E. N.  et al. 2001	11768721				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		United Arab Emirates	CDC GDPinfo	5444	Hs.370995			Hypertension research. 2001 Nov;24(6):635-9	An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.		168820	26507	2	2001	In conclusion, our results suggest an association between LVH and the C825T allele of the G-protein beta3 subunit gene.	Control:115 age- and sex-matched controls (23 hypertensives and 92 normotensives) who did not present with LVH, from United Arab Emirati population;Case:98 subjects with LVH (78 hypertensives and 20 normotensives) from United Arab Emirati population										
132916	Y	multiple chemical sensitivity	PHARMACOGENOMIC	PHARM	Multiple Chemical Sensitivity|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		McKeown-Eyssen, G.  et al. 2004	15256524				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			International journal of epidemiology. 2004 Oct;33(5):971-8	Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1,PON2 and MTHFR.		168820	26508	2	2004	 A genetic predisposition for MCS may involve altered biotransformation of environmental chemicals. The CYP2D6 enzyme activates and inactivates toxins; the NAT2 enzyme bioactivates arylamines to protein-binding metabolites. A gene-gene interaction between CYP2D6 and NAT2 suggested that rapid metabolism for both enzymes may confer substantially elevated risk (OR = 18.7, P = 0.002). Our finding parallels others' observation of a link between PON1 heterozygosity and neurological symptoms in Gulf War syndrome. This first demonstration of genetic variation in drug-metabolizing enzymes in association with MCS requires replication. However, it suggests new research directions on genetically variable toxin pathways that might be important in MCS.	Control:162:controls;Case:203 female Caucasian multiple chemical sensitivity:cases										
132917		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Salama, S. A.  et al. 2002	12355548				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Environmental and molecular mutagenesis. 2002 ;40(3):153-60	Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers.		168820	27175	2	2002	Since the analysis of genetic susceptibility factors is still in its infancy, our study may stimulate additional investigations to understand the roles of genetic susceptibility and cigarette smoking in AR.	Case:120 atherosclerosis patients;Control:90 matched controls	smoking (tobacco)									
132912		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Hegele, R. A.  et al. 2001	11512679				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	5444	Hs.370995			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		168820	26504	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
132913	N	Alzheimer's disease; vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		Zuliani, G.  et al. 2001	11328206				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Acta neurologica Scandinavica. 2001 May;103(5):304-8	Genetic polymorphisms in older subjects with vascular or Alzheimer's dementia.		168820	26505	2	2001	 Paraoxonase, ACE, and MTHFR polymorphisms were not associated with VD or LOAD; these common polymorphisms might have a marginal role in the pathogenesis of dementia in older subjects. In spite of a low frequency of the apo E epsilon4 allele in our sample, the frequency of epsilon4 allele was about double in LOAD compared with controls.	Case:45 patients with late-onset AD;Control:54 non-demented controls										
132914	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	7	7q21.3	PON1	94764923	94791780		Zuliani, G.  et al. 2002	12196500				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The journals of gerontology Series A, Biological sciences and medical sciences. 2002 Sep;57(9):M611-5	Genetic Factors Associated With the Absence of Atherosclerosis in Octogenarians		168820	26506	2	2002	 The low prevalence of the PON 192 B allele in the VaSA subjects suggests that this polymorphism might have an important role in VaSA, probably by hydrolyzing lipid peroxides and thus preventing low-density lipoprotein from undergoing the oxidative modification. This finding further supports the oxidative hypothesis of ATS.	Control:161 controls with a negative history for cardiovascular:disease;Case:30/30 subjects with moderate carotid atherosclerosis (n=30) and subjects with vascular successful aging:(n=30)										
132909		cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident	7	7q21.3	PON1	94764923	94791780		Topic, E.  et al. 2001	11388660				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical chemistry and laboratory medicine. 2001 Apr;39(4):346-50	Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease.		168820	25432	2	2001	The preliminary results obtained in this study revealed an association of the MTHFR and APOE gene polymorphism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis in subjects having APOEepsilon3epsilon4 genotype. Additional studies in larger patient groups are needed to confirm these observations.	Control:124 age and sex matched healthy volunteers;Case:36 carotid stenosis patients;Case:56 stroke patients										
132910		angina	CARDIOVASCULAR	CARD	Angina Pectoris, Variant|Microvascular Angina|Coronary Vasospasm	7	7q21.3	PON1	94764923	94791780		Mashiba, J.  et al. 2005	16308493				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese		CDC GDPinfo	5444	Hs.370995			Circulation journal. 2005 Dec;69(12):1466-71	Vasospastic Angina and Microvascular Angina are Differentially Influenced by PON1 A632G Polymorphism in the Japanese.		168820	25433	2	2005	 There was a significant association between PON1 A632G polymorphism and MVA as well as VSA, but the impact of this on VSA and MVA is different in the Japanese.											
132911		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Tobin, M. D.  et al. 2004	15039125				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			European heart journal. 2004 Mar;25(6):459-67	Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study		168820	26503	2	2004	 We report associations of two polymorphisms and haplotypes at two loci with risk of MI that warrants testing in future studies. Furthermore, we demonstrate the application of a multilocus assay in the setting of a large association study and the additional benefit gained from the study of haplotypes to identify variants influencing risk of coronary heart disease.	Control:505:controls;Case:547 acute myocardial infarct cases										
132906		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Horibe, H.  et al. 2004	15135268				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2004 May;174(1):181-7	Genetic risk for restenosis after coronary balloon angioplasty.		168820	25429	2	2004	Genotyping of these polymorphisms may prove informative for assessment of genetic risk for restenosis after POBA.	Cohort 730 individuals (424 men, 306 women) who underwent successful plain old balloon angioplasty in at least one major coronary artery and were examined angiographically 6 months after the procedure 										
132907		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Antognelli, C.  et al. 2004	15538743				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The Prostate. 2005 May;63(3):240-51	Association of CYP17, GSTP1, and PON1 polymorphisms with the risk of prostate cancer.		168820	25430	2	2004	 The three polymorphisms appear to be common genetic traits that are associated with an increased risk for PCa: the analysis of them all in each single case may be a predictable factor, particularly among groups exposed to PCa-related carcinogens.	Control:360 age-matched control patients with benign prostatic:hyperplasia;Case:384 patients with untreated prostate cancer										
132908		intima-media thickness	CARDIOVASCULAR	CARD	Helicobacter Infections|Cerebrovascular Accident|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	7	7q21.3	PON1	94764923	94791780		Markus, H.  et al. 2001	11692002				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	UK African Caribbean	Africa|Caribbean Region|Great Britain	CDC GDPinfo	5444	Hs.370995			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2465-71	Increased common carotid intima-media thickness in UK African Caribbeans and its relation to chronic inflammation and vascular candidate gene polymorphisms		168820	25431	2	2001	 Carotid IMT is increased in UK African Caribbeans even after controlling for conventional risk factors. There are highly significant ethnic differences in the distribution of many potential cerebrovascular candidate genes. Although those we examined did not explain the ethnic differences in IMT, other genetic predispositions or environmental exposures could account for these differences.	Cohort 291 men (202 Caucasian and 89 African Caribbean) Britain 										
132903	Y	coronary artery spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm|Hypertension|Diabetes Complications	7	7q21.3	PON1	94764923	94791780		Ito, T.  et al. 2002	11810302				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Human genetics. 2002 Jan;110(1):89-94	Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm		168820	23241	2	2002	Thus, there is a significant association between the PON1-192R allele and coronary spasm; the PON1-192R allele may play an important role in the genesis of coronary spasm, probably by attenuating the suppression of oxidative stress.	Control:212 control subjects;Case:214 patients with coronary spasm										
132904		paraoxonase-1 specific activity	NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		James, R. W.  et al. 2005	15900219				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Pharmacogenetics and genomics. 2005 Jun;15(6):441-6	Paraoxonase-1 promoter polymorphism C--107T and serum apolipoprotein AI interact to modulate serum paraoxonase-1 status.		168820	25427	2	2005	 Enzyme inactivation giving rise to modulated activity per unit mass of peptide is not a major contributor to pathological effects of disease on serum paraoxonase-1 status. The C--107T polymorphism and serum apolipoprotein AI have major impacts individually on SP and also provide an example of gene-environment interaction to modulate such activities. These effects accentuate the differences between--107C and--107T allele carriers in terms of serum paraoxonase-1 status. The data underline the complexity of the factors that determine serum paraoxonase-1 status and suggest that the latter would benefit from therapeutic modulation of serum high density lipoproteins.	Control:controls;Case:patients										
132905		coronary artery disease	CARDIOVASCULAR	CARD	Alzheimer Disease|Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Nassar, B. A.  et al. 2002	12074828				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical biochemistry. 2002 May;35(3):205-9	=>Author:Nassar, B. A. //Darvesh, S. //Bevin, L. D. //Rockwood, K. //Kirkland, S. A. //O'Neill, B. J. //Bata, I. R. //Johnstone, D. E. //Title, L. M.		168820	25428	2	2002	 Our study suggests that there is a minor association between BChE-K and early-onset CAD, especially in the presence of the APOE-epsilon 4 allele.	Case:150 patients with early-onset CAD (< 50 yr);Case:150 patients with late-onset CAD (>65 yr)										
132900		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Zheng, J.  et al. 2005	16105444				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Apr;23(2):83-6	[Relationship between the polymorphism of carboxylic esterases and genetic susceptibility to organophosphates pesticides exposure]		168820	23238	2	2005	 Genotypes of BChE-K, PON-192 and PON-55 are related to susceptibility to OPs exposure.											
132901	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Van Der Logt, E. M.  et al. 2005	15865106				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Anticancer research. 2005 Mar-Apr;25(2B):1465-70	No association between genetic polymorphisms in NAD(P)H oxidase p22phox and paraoxonase 1 and colorectal cancer risk		168820	23239	2	2005	 Variant genotypes of NAD(P)H oxidase p22phox and PON1 do not contribute to the susceptibility to CRC.	Control:354:controls;Case:365 Caucasian colorectal cancer cases										
132902		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Strauss, E.  et al. 2005	16077191				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of physiology and pharmacology. 2005 Mar;56 Suppl 2:65-75	Age and hypertension related changes in genotypes of MTHFR 677C>T, 1298A>C and PON1 -108C>T SNPs in men with coronary artery disease (CAD).		168820	23240	2	2005			blood pressure									
132897	Y	acetylcholinesterase; paraoxonase	UNKNOWN	UNK		7	7q21.3	PON1	94764923	94791780		Bryk, B.  et al. 2005	15715671				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of neurochemistry. 2005 Mar;92(5):1216-27	Inherited and acquired interactions between ACHE and PON1 polymorphisms modulate plasma acetylcholinesterase and paraoxonase activities.		168820	23235	2	2005	Our findings demonstrate that polymorphism(s) in the adjacent PON1 and ACHE genes affect each other's expression, predicting for carriers of biochemically debilitating ACHE/PON1 polymorphisms adverse genome-environment interactions.	Cohort 157 healthy Israelis 										
132898		anxiety disorder	PSYCH	PSY		7	7q21.3	PON1	94764923	94791780		Sklan, E. H.  et al. 2004	15060281				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Proceedings of the National Academy of Sciences of the United States of America. 2004 Apr;101(15):5512-7	Acetylcholinesterase/paraoxonase genotype and expression predict anxiety scores in Health, Risk Factors, Exercise Training, and Genetics study.		168820	23236	2	2004	Our findings indicate that a significant source of anxiety feelings involves inherited and acquired parameters of acetylcholine regulation that can be readily quantified, which can help explaining part of the human variance for state and trait anxiety.	Cohort 461 healthy subjects from the Health, Risk Factors, Exercise Training, and Genetics Family Study 										
132899	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		Shi, J. J.  et al. 2004	15090300				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Di yi jun yi da xue xue bao. 2004 Apr;24(4):371-4	[Gln192Arg polymorphism of the paraoxonase-1 gene is not associated with Alzheimer's disease in Chinese]		168820	23237	2	2004	 Gln192Arg polymorphism of the PON1 gene is not associated with sporadic AD in Chinese.	Case:165 Chinese Alzheimer's disease patients;Control:174 age-matched control subjects										
132893		nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	7	7q21.3	PON1	94764923	94791780			16080611				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Moscow	CDC GDPinfo	5444	Hs.370995			Genetika. 2005 Jun;41(6):844-9	[A search for association between the polymorphic markers of PON1 and PON2 genes and diabetic nephropathy in patients with type I diabetes mellitus]		168820	19015	2	2005												
132894	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Oliveira, S. A.  et al. 2004	14996478				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Brazil	CDC GDPinfo	5444	Hs.370995			International journal of cardiology. 2004 Mar;94(1):73-7	PON1 M/L55 mutation protects high-risk patients against coronary artery disease.		168820	19017	2	2004	In contrast to traditional coronary risk factors, the PON1 M/L mutation can be considered predictive of protection against CAD.	Case:352 high-risk patients with angiographically defined:CAD;Control:380 age- and sex-matched control subjects										
132896		cholesterol, HDL; triglycerides	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Xiao, Z.  et al. 2005	15952113				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):272-6	Effect of the interaction between paranoxonase 1 and ATP-binding cassette transporter 1 gene polymorphism on serum lipid level.		168820	23234	2	2005	 The result exhibited an interaction of PON1 A/B192 and ABCA1 R219K on serum lipid level.											
132890	Y	retinopathy, diabetic; albumin excretion rate	UNKNOWN	UNK	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Kao, Y.  et al. 2002	11918623				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Diabetic medicine. 2002 Mar;19(3):212-5	Paraoxonase gene cluster is a genetic marker for early microvascular complications in type 1 diabetes.		168820	19009	2	2002	 This study supports the hypothesis that diabetic microangiopathy is genetically heterogeneous. PON1 Leu/Leu increases the risk for retinopathy and PON2 Ser/Ser increases the risk for microalbuminuria.	Cohort 372 adolescents with type 1 diabetes 										
132891		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis	7	7q21.3	PON1	94764923	94791780		Mackness, B.  et al. 2002	12151850				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Current opinion in lipidology. 2002 Aug;13(4):357-62	The paraoxonase gene family and coronary heart disease.		168820	19010	2	2002	Although advances have been made in research into the paraoxonase family and atherosclerosis, much more needs to be done.											
132892		atherosclerosis, coronary; hypercholesterolemia	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Acuna, M.  et al. 2004	15359538				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Human biology; an international record of research. 2004 Apr;76(2):299-305	Genetic variants of the paraoxonases (PON1 and PON2) in the Chilean population		168820	19014	2	2004	Finally, our data indicate ethnic-group-dependent genetic differences in the vulnerability to toxic organophosphorus.	Cohort hospital samples taken from the northern and eastern parts of Santiago, Chile Santiago, Chile 										
132887		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Ranade, K.  et al. 2005	16239632				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Stroke; a journal of cerebral circulation. 2005 Nov;36(11):2346-50	Evaluation of the paraoxonases as candidate genes for stroke: Gln192Arg polymorphism in theparaoxonase 1 gene is associated with increased risk of stroke.		168820	19004	2	2005	 These results suggest that Gln192Arg genotype is an important risk factor for stroke.											
132888		cholesterol, HDL; lipoproteins	METABOLIC	MET	Carotid Artery Diseases	7	7q21.3	PON1	94764923	94791780			16327022				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of lipid research. 2005	Paraoxonase-1 and serum concentrations of HDL-cholesterol and apoA-I		168820	19005	2	2005												
132889	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Hong, S. H.  et al. 2001	11676977				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Korea	CDC GDPinfo	5444	Hs.370995			Clinical biochemistry. 2001 Sep;34(6):475-81	Genetic variations of the paraoxonase gene in patients with coronary artery disease.		168820	19007	2	2001	 Our study suggested a gene-gene interaction between the PON1 and PON2 polymorphisms for CAD risk. However, we could not exclude the possibility that these polymorphisms may have linkage disequilibrium with a tightly linked PON3 locus or significant atherosclerotic alleles of nearby genes. Family studies may, therefore, help to confirm the role of the PON polymorphism for CAD risk.	Control:113 age-matched normal controls;Case:190 patients with coronary artery disease										
132883		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		Pola, R.  et al. 2005	15925115				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Neuroscience letters. 2005 Jul;382(3):338-41	Responsiveness to cholinesterase inhibitors in Alzheimer's disease: a possible role for the 192Q/R polymorphism of the PON-1 gene.		168820	18999	2	2005	Mutations of genes encoding for endogenous modulators of the cholinergic system should merit further investigation as prognostic indicators of individual response to treatment in AD subjects.	Cohort Alzheimer's disease cases 	cholinesterase inhibitors									
132884		lipoprotein; lipids	METABOLIC	MET	Carotid Artery Diseases	7	7q21.3	PON1	94764923	94791780		Rozek, L. S.  et al. 2005	15995178				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of lipid research. 2005 Sep;46(9):1888-95	The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status.		168820	19000	2	2005												
132885	Y	childhood brain tumor	CANCER	CAN	Neuroectodermal Tumors, Primitive|Brain Neoplasms|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Searles Nielsen, S.  et al. 2005	16002382		Reduced detoxification of chlorpyrifos oxon and diazoxon (OP insecticide intermediates)	5'promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Mainly non-Hispanic Caucasian		CDC GDPinfo	5444	Hs.370995			Environmental health perspectives. 2005 Jul;113(7)	Risk of brain tumors in children and susceptibility to organophosphorus insecticides: the potentialrole of paraoxonase (PON1).	rs705379	168820	19001	2	2005	Brain tumors in children, especially primitive neuroectodermal tumors, are associated with the PON1 C-108T allele associated with reduced ability to detoxify insecticides common in children's homes at the time of the study.  Significant gene-environment interaction (association present only among children whose homes were treated for insect pests).  However, based on small numbers, requires confirmation in much larger studies.	Population-based case-control study	pesticides (treatment of home for insects)	PON1 C-108T	T							
132880	N	diabetes, type 2; lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Sampson, M.  et al. 2005	15853770				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clin Sci (Lond).. 2005 Aug;109(2):189-97	Paraoxonase-1 (PON-1) genotype and activity and in vivo oxidized plasma low-density lipoprotein in Type II diabetes.		168820	18996	2	2005	This data does not support an in vivo action of paraoxonase on LDL oxidation.	Control:50:controls;Case:58 type 2 diabetic subjects										
132881		diazonase activity	UNKNOWN	UNK	Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		O'Leary, K. A.  et al. 2005	15864126				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Pharmacogenetics and genomics. 2005 Jan;15(1):51-60	Genetic and other sources of variation in the activity of serum paraoxonase/diazoxonase in humans: consequences for risk from exposure todiazinon.		168820	18997	2	2005	In conclusion, although there is a wide variation in activity in individuals both within and between genotypes, those individuals with a combination of Q and M alleles generally have a lower ability to detoxify diazoxon, which implies a potentially greater susceptibility to toxicity from diazinon.	Cohort 85 healthy volunteers 										
132882		PON1 activity	NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		Phuntuwate, W.  et al. 2005	15924216				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Thai		CDC GDPinfo	5444	Hs.370995			Journal of human genetics. 2005 ;50(6):293-300	Paraoxonase 1 status in the Thai population.		168820	18998	2	2005	Our findings suggest that the physiological relevance of the PON1 polymorphisms is that they are associated with significant differences in serum PON1 activity, and the impact of PON1 polymorphisms on this activity is substrate-dependent.	Cohort 202 healthy Thai individuals 										
132877	Y	cholesterol, HDL; C-reactive protein; carotid intima-media thickness	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.3	PON1	94764923	94791780		van Himbergen, T. M.  et al. 2004	15576850				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of lipid research. 2005 Mar;46(3):445-51	Indications for a contribution of paraoxonase type-1 to plasma high density lipoprotein levels in patients with familial hypercholesterolemia		168820	18993	2	2004	Our observations support the hypothesis that both PON1 levels and activity preserve HDL-cholesterol in plasma. The relevance of this supposedly anti-atherogenic activity needs to be delineated in further studies with CVD as the clinical endpoint.	Cohort 302 patients with familial hypercholesterolemia 										
132878	Y	carotid artery damage	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Arteriosclerosis|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Roest, M.  et al. 2005	15642273				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical biochemistry. 2005 Feb;38(2):123-7	Variation at the paraoxonase gene locus contributes to carotid arterial wall thickness in subjects with familial hypercholesterolemia.		168820	18994	2	2005	 Genetic variation at the PON1 locus has a strong influence on PON1 activity as well as on carotid IMT. These data indicate that PON1 is indeed involved in the pathogenesis of atherosclerosis. Whether this also translates into a role for PON1 in the occurrence of CVD events needs to be confirmed by large prospective studies in the general population.	Cohort 187 patients with familial hypercholesterolemia 										
132879		PON1 activity	NORMALVARIATION	NV	Arteriosclerosis	7	7q21.3	PON1	94764923	94791780		Chen, J.  et al. 2005	15767359				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):731-4	Haplotype-phenotype relationships of paraoxonase-1.		168820	18995	2	2005												
132874	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Koda, Y.  et al. 2004	15008790				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Annals of human genetics. 2004 Mar;68(Pt 2):110-9	Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene		168820	18990	2	2004	These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes.	Cohort 30/30/64 Africans (n= 30) Europeans (n= 30) and Japanese (n= 64) 										
132875	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Rontu, R.  et al. 2004	15284530				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Finland	CDC GDPinfo	5444	Hs.370995			Pharmacogenetics. 2004 Aug;14(8):479-85	Association of paraoxonase-1 M55L genotype and alcohol consumption with coronary atherosclerosis:the Helsinki Sudden Death Study		168820	18991	2	2004	The areas of atherosclerotic lesions in LAD appear to be dependent on the amount of alcohol consumption, especially in men carrying the PON1 M55 allele.	Cohort 700 middle-aged Finnish men from the Helsinki Sudden Death Study 	alcohol									
132876	N	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases	7	7q21.3	PON1	94764923	94791780		Van Himbergen, T.  et al. 2004	15346646				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Netherlands	CDC GDPinfo	5444	Hs.370995			Free radical research. 2004 Jun;38(6):553-60	Paraoxonase genotype, LDL-oxidation and carotid atherosclerosis in male life-long smokers		168820	18992	2	2004	The lack of association of PON-1 genotype with oxidative status parameters and IMT suggests that PON-1 is not a major inhibitor of LDL oxidation in a population of life-long smokers.	Cohort 207 male life-long smokers 	smoking (tobacco)									
132871		restenosis	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Scacchi, R.  et al. 2003	14527200				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Human biology; an international record of research. 2003 Jun;75(3):365-73	New data on the world distribution of paraoxonase (PON1 Gln 192 --> Arg) gene frequencies		168820	18987	2	2003	The data show a large variability in allele frequencies, and, in particular, that PON1 allele distribution depends on membership to different geographic populations.	Cohort individuals from from mainland Italy, Sardinia, Ethiopia, Benin, and Ecuador Italy, Sardinia, Ethiopia, Benin and Ecuador 										
132872	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Rontu, R.  et al. 2003	14642403				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Finland	CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2003 Nov;171(1):31-7	Smoking-dependent association between paraoxonase 1 M/L55 genotype and coronary atherosclerosis in males: an autopsy study.		168820	18988	2	2003	These data suggest that the genetic variation of PON1 affects the formation of early atherosclerotic lesions and that the effect is modified by smoking.	Cohort 700 Finnish males from an autopsy series Finland 	smoking (tobacco)									
132873	Y	paraoxonase	NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		Wang, X.  et al. 2004	14767577				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			International journal of molecular medicine. 2004 Mar;13(3):445-50	Genetic and environmental factors associated with plasma paraoxonase activity in healthy Chinese.		168820	18989	2	2004	The results illustrate the complexity of polymorphism-phenotype associations. The observed interactions constitute concrete examples of gene-environment and environment-environment interactions.	Cohort healthy Chinese individuals 	smoking (tobacco)									
132868	Y	organophosphate toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Mackness, B.  et al. 2003	12563177				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Pharmacogenetics. 2003 Feb;13(2):81-8	Paraoxonase and susceptibility to organophosphorus poisoning in farmers dipping sheep.		168820	18984	2	2003	 The farmers reporting chronic ill health due to organophosphate exposure have a higher proportion of the PON1-192R polymorphism associated with lower rates of diazoxon hydrolysis and lower rates of diazoxon hydrolysis than the controls and that their ill health may be explained by a lower ability to detoxify diazoxon.	Case farmers reporting chronic ill health which they attributed to OP exposure whilst sheep dipping:UK;Control farmers who carried out similar activities, but remained well										
132869	Y	cholesterol, HDL	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Obata, T.  et al. 2003	12621166				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of atherosclerosis and thrombosis. 2003 ;10(1):57-62	R192Q paraoxonase gene variant is associated with a change in HDL-cholesterol level during dietary caloric restriction in nondiabetic healthy males.		168820	18985	2	2003	PON R192Q polymorphism could affect HDL-C levels after caloric restriction presumably due to decreased HL activity and altered insulin resistance.	Cohort nondiabetic healthy males 										
132870	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Kuremoto, K.  et al. 2003	12740482				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese	Japan	CDC GDPinfo	5444	Hs.370995			Journal of atherosclerosis and thrombosis. 2003 ;10(2):85-92	R/R genotype of human paraoxonase (PON1) is more protective against lipoprotein oxidation and coronary artery disease in Japanese subjects.		168820	18986	2	2003	The PON1 genotype clearly determined the oxidative modification of lipoproteins and may play a role in the pathogenesis of atherosclerosis via its protective effect against lipoprotein oxidation in Japanese subjects.	Cohort 179 patients who underwent coronary angiography 										
132865	N	cerebral amyloid angiopathy	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease|Arteriosclerosis	7	7q21.3	PON1	94764923	94791780		Yamada, M.  et al. 2002	11935033				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Japan	CDC GDPinfo	5444	Hs.370995			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):896-900	No association of paraoxonase genotype or atherosclerosis with cerebral amyloid angiopathy.		168820	18981	2	2002	 The PON1 polymorphism and atherosclerosis would not appear to be associated with risk of CAA in the elderly, although further study with larger samples is necessary for confirmation.											
132866		cholesterol, LDL; cholesterol, total	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Allebrandt, K. V.  et al. 2002	12009854				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Brazilian		CDC GDPinfo	5444	Hs.370995			Toxicology and applied pharmacology. 2002 May;180(3):151-6	Variability of the Paraoxonase Gene (PON1) in Euro- and Afro-Brazilians		168820	18982	2	2002	We suggest that the high linkage disequilibrium in Caucasians and Asians characterized by the absence or very low frequency of the MR haplotype is mainly due to genetic drift and possibly also to natural selection favoring the PON1*192Q allele or a variant in linkage disequilibrium with it. This seems to be the first study on the PON1 variability at the DNA level in South American samples and one of the few studies on individuals of mixed African origin	Cohort 101/70 Euro- (N = 101) and Afro-Brazilians (N = 70) individuals 										
132867		paraoxonase activity	NORMALVARIATION	NV	Kidney Failure, Chronic|Uremia	7	7q21.3	PON1	94764923	94791780		Schiavon, R.  et al. 2002	12204423				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinica chimica acta; international journal of clinical chemistry. 2002 Oct;324(2-Jan):39-44	HDL3-related decreased serum paraoxonase (PON) activity in uremic patients: comparison with thePON1 allele polymorphism.		168820	18983	2	2002	 The reduction of the HDL3, not the genetic PON1 polymorphism, seems the most important determinant of PON1 activity reduction in HD.	Case:74 hemodialysis patients (47 M and 27 F);Control:92 healthy individuals (48 M and 44 F)										
132862		cholesterol, HDL; apoAI	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Malin, R.  et al. 2001	11668222				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Pharmacogenetics. 2001 Oct;11(7):625-33	Paraoxonase genotype modifies the effect of pravastatin on high-density lipoprotein cholesterol.		168820	18978	2	2001	The PON genotype thus modifies the effect of pravastatin on serum HDL-C and apo AI concentrations. This could partly explain the contradictory results obtained from previous studies on the effects of statins on the serum HDL-C concentration.	Cohort 51 mildly hypercholesterolemic male subjects (mean age 35 +/- 4 years) 	pravastatin									
132863		cholesterol, HDL; paraoxonase activity	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Tomas, M.  et al. 2001	11740946				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			European journal of pharmacology. 2001 Dec;432(3-Feb):121-8	Interaction between the Gln-Arg 192 variants of the paraoxonase gene and oleic acid intake as a determinant of high-density lipoprotein cholesterol and paraoxonase activity.		168820	18979	2	2001	These results suggest that the beneficial effect of increasing oleic acid intake on HDL and PON1 activity at population level is especially observed in subjects carrying the R allele of the PON1-192 polymorphism.	Cohort 654 men randomly selected from the census 	oleic acid									
132864	Y	insulin resistance	NORMALVARIATION	NV	Cardiovascular Diseases|Insulin Resistance	7	7q21.3	PON1	94764923	94791780		Barbieri, M.  et al. 2002	11788650				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The Journal of clinical endocrinology and metabolism. 2002 Jan;87(1):222-5	LL-paraoxonase genotype is associated with a more severe degree of homeostasis model assessment IR in healthy subjects.		168820	18980	2	2002	In conclusion, the presence of LL PON genotype is associated with a more severe degree of IR. Thus, IR might be the possible missing link between Met-Leu 54 PON polymorphism and the increased cardiovascular risk.	Cohort 213 healthy subjects 										
132859		coronary artery disease; diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Osei-Hyiaman, D.  et al. 2001	11375798				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	CDC GDPinfo	5444	Hs.370995			European journal of endocrinology. 2001 Jun;144(6):639-44	Coronary artery disease risk in Chinese type 2 diabetics: is there a role for paraxonase 1 gene(Q192R) polymorphism?		168820	18975	2	2001	 Frequency of the 192R allele of the human paraoxonase 1 gene may be an independent risk factor for CAD in the Chinese type 2 diabetics studied.	Case:201 201 angiographically documented CAD patients with type 2 diabetes central China;Control:231 subjects with type 2 diabetes central China										
132860		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Senti, M.  et al. 2001	11395042				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2001 Jun;156(2):443-9	Relationship of age-related myocardial infarction risk and Gln/Arg 192 variants of the human paraoxonase1 gene: the REGICOR study.		168820	18976	2	2001	The risk of MI increases with advancing age, principally among subjects carrying the low-activity QQ genotype.	Case:280 consecutive myocardial infarction patients;Control:396 control subjects										
132861	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Mackness, B.  et al. 2001	11557671				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Arteriosclerosis, thrombosis, and vascular biology. 2001 Sep;21(9):1451-7	Paraoxonase status in coronary heart disease: areactivity and concentration more important than genotype?		168820	18977	2	2001	These results indicate that lower PON1 activity and concentration and, therefore, the reduced ability to prevent LDL lipid peroxidation may be more important in determining the presence of CHD than paraoxonase genetic polymorphisms.	Control:282 control subjects (not otherwise specified in:abstract);Case:417 subjects with angiographically proven coronary heart disease										
132856	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780			16319130				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Human molecular genetics. 2006 Jan;15(1):77-85	Polymorphisms in the PON gene cluster are associated with Alzheimer disease		168820	13277	2	2005												
132857		hearing loss/deafness	OTHER	OTH	Hearing Loss, Noise-Induced|Occupational Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Fortunato, G.  et al. 2004	15345661				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical chemistry. 2004 Nov;50(11):2012-8	Paraoxonase and Superoxide Dismutase Gene Polymorphisms and Noise-Induced Hearing Loss		168820	14028	2	2004	 Our data suggest that SOD2 and PON2 polymorphisms, by exerting variable local tissue antioxidant roles, could predispose to NIHL. However, caution should be exercised in interpreting these data given the small sample size and the difficulty in matching cases to controls regarding the overwhelming risk factor, i.e., smoking at least 10 cigarettes/day.	Case male workers from an aircraft factory with noise-induced hearing loss;Control:controls										
132858		vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis	7	7q21.3	PON1	94764923	94791780		Jarvik, G. P.  et al. 2000	11073850				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Arteriosclerosis, thrombosis, and vascular biology. 2000 Nov;20(11):2441-7	Paraoxonase (PON1) phenotype is a better predictor of vascular disease than is PON1(192) or PON1(55) genotype.		168820	18974	2	2000	These results support the benefit of a "level crossing" approach that includes intervening phenotypes in the study of complexly inherited disease.	Case:106 carotid artery disease (CAAD) cases;Control:212 age- and race-matched men (mean age 66.4 years)	smoking (tobacco)	PON1	192	PON1	55			Y	phenotype of the disease	vascular disease
132853	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Wang, X.  et al. 2003	12588779				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	CDC GDPinfo	5444	Hs.370995			Arteriosclerosis, thrombosis, and vascular biology. 2003 Feb;23(2):328-34	Extensive association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese Han population		168820	13274	2	2003	 This extensive association study has identified the PON1 -162G/A and R160G polymorphisms to be independently associated with CHD in Chinese Han population and warrants additional study to elucidate the biological mechanism.	Case:474 Chinese Han male coronary heart disease patients;Control:475:controls		PON1	-162G/A	PON1	R160G			Y		coronary heart disease
132854		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Robertson, K. S.  et al. 2003	14636952				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		London	CDC GDPinfo	5444	Hs.370995			Biochimica et biophysica acta. 2003 Nov;1639(3):203-12	Human paraoxonase gene cluster polymorphisms as predictors of coronary heart disease risk in the prospective Northwick Park Heart Study II.		168820	13275	2	2003	These data demonstrate the importance of stratifying by environmental factors and the use of multiple SNPs for genetic analysis.	Case coronary heart disease patients from the prospective Northwick Park Heart Study II;Control:controls	smoking (tobacco)									
132855		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Wang, X. L.  et al. 2005	16078734				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Yi chuan xue bao. 2005 Jul;32(7):675-81	[Association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese]		168820	13276	2	2005												
132850	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Wheeler, J. G.  et al. 2004	15001326				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Lancet. 2004 Feb;363(9410):689-95	Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls:meta-analysis of 43 studies.		168820	13269	2	2004	In contrast to previous suggestions, this meta-analysis shows no significant association of CHD with the L55M or T(-107)C polymorphism in PON1 or with the S311C polymorphism in PON2. The weak overall association between the Q192R polymorphism and CHD is of uncertain relevance, particularly since there was no significant association among the larger studies which should be less prone to selective publication. These findings reinforce the need for much larger and more rigorous investigations of the genetic determinants of complex diseases than is now customary, as well as for regularly updated systematic appraisals of such studies to help improve interpretation and prioritise hypotheses.	Case:11,212 coronary heart disease patients from 43 studies;Control:12,786 controls from 43 studies										
132851	Y	preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature	7	7q21.3	PON1	94764923	94791780		Chen, D.  et al. 2004	15232408				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		China	CDC GDPinfo	5444	Hs.370995			Epidemiology (Cambridge, Mass). 2004 Jul;15(4):466-70	Polymorphisms of the paraoxonase gene and risk of preterm delivery.		168820	13270	2	2004	 Infant PON1 RR and PON2 CC genotypes were associated with preterm delivery in our study population, which suggests a possible role for human paraoxonase variability in the etiology of preterm delivery.	Control:105 term infants;Case:80 preterm infants										
132852		Alzheimer's disease; coronary artery disease; diabetes, type 2; dementia, vascular	NEUROLOGICAL	NEUR		7	7q21.3	PON1	94764923	94791780		Zhang, Y.  et al. 2005	16185677				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Clinica chimica acta; international journal of clinical chemistry. 2006 Mar;365(2-Jan):98-103	Detecting the polymorphisms of paraoxonase (PON) cluster in Chinese Han population based on a rapid method.		168820	13273	2	2005	 This method represents a simple, economical and time-saving technique to simultaneously detect 4 polymorphisms in the PON cluster. It provides a useful application to enable further study of the relationship between PON1 and PON2 and their role in atherosclerosis.											
132847		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Letellier, C.  et al. 2002	12442067				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Diabetes & metabolism. 2002 Sep;28(4 Pt 1):297-304	Serum paraoxonase activity and paraoxonase gene polymorphism in type 2 diabetic patients with or without vascular complications.		168820	13262	2	2002	 The difference in allele frequency for the PON(1) Q/R 192 gene polymorphism may be the cause of the low paraoxonase activity observed in type 2 diabetes mellitus. Further studies need to be conducted to elucidate the role of the enzyme in the development of vascular complications in diabetes.	Case:71 diabetics with vascular complications;Control:96 diabetic patients without vascular complications										
132848		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Chen, Q.  et al. 2002	12454802				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		United States	CDC GDPinfo	5444	Hs.370995			American journal of human genetics. 2003 Jan;72(1):13-22	Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation (WISE) study.		168820	13263	2	2002	Our data indicate that the severity of CAD, in terms of the number of diseased vessels, may be affected by common genetic variation in the PON gene cluster, on chromosome 7.	Cohort 711 subjects (589 whites and 122 blacks) from the Women's Ischemia Syndrome Evaluation (WISE) study 										
132849	Y	bone density	METABOLIC	MET	Osteoporosis	7	7q21.3	PON1	94764923	94791780		Yamada, Y.  et al. 2003	12955589				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese	Japan	CDC GDPinfo	5444	Hs.370995			Journal of human genetics. 2003 ;48(9):469-75	Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese.		168820	13266	2	2003	Our results suggest that the paraoxonase 1 and 2 genes are candidate loci for reduced bone mass in postmenopausal Japanese women.	Cohort community-dwelling Japanese (1,087-1,094 women and 1,112-1,125 men) randomly recruited to a population-based prospective cohort study of aging and age-related diseases 										
132843		atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Wang, X. L.  et al. 2005	16120573				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Yi chuan. 2005 Jul;27(4):539-43	[Polymorphisms screening of PON gene cluster]		168820	13253	2	2005												
132844		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms|Meningeal Neoplasms|Meningioma	7	7q21.3	PON1	94764923	94791780		Kafadar, A. M.  et al. 2005	16142697	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Cell biochemistry and function. 2005	Paraoxonase 192 gene polymorphism and serum paraoxonase activity in high grade gliomas and meningiomas.		168820	13254	2	2005												
132846		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	7	7q21.3	PON1	94764923	94791780			16323636				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Korea	CDC GDPinfo	5444	Hs.370995			Journal of preventive medicine and public health. 2005 Aug;38(3):345-50	[Effects of oxidative DNA damage induced by polycyclic aromatic hydrocarbons and genetic polymorphism of the paraoxonase-1 (PON1) gene on lung cancer]		168820	13257	2	2005	 These results lead to the conclusion that PAHs would induce oxidative DNA damage, especially in individuals with the PON1 Q/Q genotype. Therefore, people with the PON1 Q/Q genotype would be more susceptible to lung cancer than those with the R/R or Q/R genotypes of the PON1 gene.											
132839		Alzheimer's disease; atherosclerosis, coronary	NEUROLOGICAL	NEUR		7	7q21.3	PON1	94764923	94791780		Gamboa, R.  et al. 2005	15993880				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Mexican		CDC GDPinfo	5444	Hs.370995			Experimental and molecular pathology. 2006 Feb;80(1):85-90	Distribution of paraoxonase PON1 gene polymorphisms in Mexican populations. Its role in the lipid profile.		168820	13249	2	2005												
132840		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Susceptibility	7	7q21.3	PON1	94764923	94791780		Fong, C. S.  et al. 2005	16008163				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Acta neurologica Taiwanica. 2005 Jun;14(2):55-60	Pesticides exposure and genetic polymorphism of paraoxonase in the susceptibility of Parkinson's disease.		168820	13250	2	2005	 The present survey reveals the close relationship between exposure to pesticides and Parkinson's disease. There are no significant differences in the distribution of PON1 genotypes between cases and controls.		pesticides									
132842		lipoprotein	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Delgado-Lista, J.  et al. 2005	16094856	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Lipids. 2005 May;40(5):471-6	A carbohydrate-rich diet reduces LDL size in QQ homozygotes for the Gln 192Arg polymorphism of the paraoxonase 1 gene.		168820	13252	2	2005			diet									
132835		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	7	7q21.3	PON1	94764923	94791780		Sardo, M. A.  et al. 2005	15969877	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Current medical research and opinion. 2005 May;21(5):777-84	Antioxidant effect of atorvastatin is independent of PON1 gene T(-107)C, Q192R and L55M polymorphisms in hypercholesterolaemic patients.		168820	13245	2	2005	 These results show, for the first time, that atorvastatin is able to improve the resistance to LDL oxidation independently of PON1 gene polymorphism.		atorvastatin									
132836		oxidative stress	OTHER	OTH	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Agachan, B.  et al. 2005	15974833	Q/R192, M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Turkish	Turkey	CDC GDPinfo	5444	Hs.370995			Physiological research. 2005 ;54(3):287-93	Paraoxonase (PON1) 55 and 192 polymorphism and its effects to oxidant-antioxidant system in turkish patients with type 2 diabetes mellitus.		168820	13246	2	2005												
132837		ill health, sheep dip related	OTHER	OTH	Agricultural Workers' Diseases|Chronic Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Povey, A. C.  et al. 2005	15982977				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Occupational medicine (Oxford, England). 2005 Jun;55(4):282-6	Paraoxonase polymorphisms and self-reported chronic ill-health in farmers dipping sheep.		168820	13247	2	2005	 These findings are consistent with the hypothesis that organophosphates contribute to the self-reported ill-health of sheep dippers.		organophosphate exposure									
132832	Y	lipids	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Bub, A.  et al. 2005	15877867	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The British journal of nutrition. 2005 Mar;93(3):291-7	Paraoxonase 1 Q192R (PON1-192) polymorphism is associated with reduced lipid peroxidation in healthy young men on a low-carotenoid diet supplemented with tomato juice		168820	13241	2	2005	Although tomato and carrot juice fail to affect PON1 activity, tomato juice intake reduced lipid peroxidation in healthy volunteers carrying the R-allele of the PON1-192 genotype and could thus contribute to CVD risk reduction in these individuals.	Cohort 22 healthy, non-smoking men on a low-carotenoid diet 	diet									
132833		PON1 activity	NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		Rojas-Garcia, A. E.  et al. 2005	15922013				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Mexican		CDC GDPinfo	5444	Hs.370995			Toxicology and applied pharmacology. 2005 Jun;205(3):282-9	Genetic polymorphisms and activity of PON1 in a Mexican population.		168820	13242	2	2005	A better understanding of the phenotype and genotypes of PON1 in Mexican populations will facilitate further epidemiological studies involving PON1 variability in OP poisoning and in the development of atherosclerosis.	Cohort 214 unrelated Mexican individuals 										
132834		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Metabolic Syndrome X	7	7q21.3	PON1	94764923	94791780		Martinelli, N.  et al. 2005	15928879				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical and experimental medicine. 2005 May;5(1):20-30	Interaction between metabolic syndrome and PON1 polymorphisms as a determinant of the risk of coronary artery disease.		168820	13243	2	2005	This study highlights a potential example of genetic (paraoxonase polymorphisms)-clinical (MS) interaction influencing cardiovascular risk.	Case:915	metabolic syndrome									
132829	N	carotid atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	7	7q21.3	PON1	94764923	94791780		Karvonen, J.  et al. 2004	15580063	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Finland	CDC GDPinfo	5444	Hs.370995			European journal of cardiovascular prevention and rehabilitation. 2004 Dec;11(6):511-2	Paraoxonase-1 gene Leu-Met55 and Gln-Arg192 polymorphisms are not associated with carotid artery atherosclerosis in a population-based cohort.		168820	13237	2	2004	 The PON1 Leu-Met55 and Gln-Arg192 polymorphisms are not major risk factors for atherosclerosis in the general Caucasian population.	Cohort 999 subjects from a population-based cohort 										
132830	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus|Obesity|Diabetes Complications|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Li, J.  et al. 2005	15654230				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		China	CDC GDPinfo	5444	Hs.370995			Genetics in medicine. 2005 Jan;7(1):58-63	PON1 polymorphism, diabetes mellitus, obesity, and risk of myocardial infarction: Modifying effect ofdiabetes mellitus and obesity on the association between PON1 polymorphism and myocardial infarction		168820	13238	2	2005	 Our data suggest that PON1 Q192R polymorphism was not independently associated with MI but further increased the risk of MI among the subjects with DM, obesity, or both, the conditions associated with high oxidative stress.	Control:154:controls;Case:154 myocardial infarction cases:Beijing, China	diabetes obesity									
132831		HTL hydrolase	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Togawa, T.  et al. 2005	15797522				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of chromatography B, Analytical technologies in the biomedical and life sciences. 2005 May;819(1):67-72	Measurement of homocysteine thiolactone hydrolase activity using high-performance liquid chromatography with fluorescence detection and polymorphisms of paraoxonase in normal human serum.		168820	13239	2	2005												
132826	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Zintzaras, E.  et al. 2004	15368102				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of human genetics. 2004 ;49(9):474-81	Association of paraoxonase 1 gene polymorphisms with risk of Parkinson's disease: a meta-analysis		168820	13234	2	2004	Therefore, the pooled results of the meta-analysis supported that there was an association between PON1-55M/L polymorphism and PD and that PON1-192Q/R polymorphism was unlikely to be a major risk factor for susceptibility to PD.	Cohort Parkinson's disease cases of Caucasian and Asian descent 										
132827	Y	macular degeneration	VISION	VIS	Macular Degeneration	7	7q21.3	PON1	94764923	94791780		Baird, P. N.  et al. 2004	15488805	Q/R192, M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Victoria	CDC GDPinfo	5444	Hs.370995			American journal of ophthalmology. 2004 Oct;138(4):665-6	Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration.		168820	13235	2	2004	 The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.	Control:115 control subjects without age-related macular:degeneration;Case:62 individuals with late age-related macular:degeneration										
132828		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Cardiovascular Diseases	7	7q21.3	PON1	94764923	94791780		Srinivasan, S. R.  et al. 2004	15488880				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2004 Nov;177(1):167-74	Q192R polymorphism of the paraoxanase 1 gene and its association with serum lipoprotein variables and carotid artery intima-media thickness in young adults from a biracial community. The Bogalusa Heart Study.		168820	13236	2	2004	These results indicate a differential effect of the Q192R variant on HDL cholesterol in whites versus blacks and a beneficial interaction effect of the variant allele with individual's sex, smoking status or triglyceride levels on the carotid IMT among whites.	Cohort 1,786 										
132823	Y	retinopathy, diabetic; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Murata, M.  et al. 2004	15270786	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Diabetic medicine. 2004 Aug;21(8):837-44	Paraoxonase 1 Gln/Arg polymorphism is associated with the risk of microangiopathy in Type 2 diabetes mellitus.		168820	13231	2	2004	 This study suggests that the presence of the 192Arg-allele in the PON1 gene is a genetic risk factor for microangiopathy in Type 2 diabetes mellitus.	Case:188 type 2 diabetic cases with microangiopathy;Control:92 type 2 diabetic cases without retinopathy or:nephropathy										
132824	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Zintzaras, E.  et al. 2004	15368102				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of human genetics. 2004 ;49(9):474-81	Association of paraoxonase 1 gene polymorphisms with risk of Parkinson's disease: a meta-analysis.		168820	13232	2	2004	Therefore, the pooled results of the supported that there was an association between PON1-55M/L and PD and that PON1-192Q/R polymorphism was unlikely to be a factor for susceptibility to PD.											
132825		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Clarimon, J.  et al. 2004	15331145				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Finnish	Finland	CDC GDPinfo	5444	Hs.370995			Neuroscience letters. 2004 Sep;367(2):168-70	Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population.		168820	13233	2	2004	Our results suggest that the M54L and Q192R polymorphisms are not major risk factors for PD in the Finnish population.	Control:controls;Case Finnish Parkinson's disease patients										
132820	Y	cholesterol, HDL; lipoprotein, LDL	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Campo, S.  et al. 2004	15236768			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Experimental gerontology. 2004 Jul;39(7):1089-94	Association between serum paraoxonase (PON1) gene promoter T(-107)C polymorphism, PON1 activity and HDL levels in healthy Sicilian octogenarians.		168820	13228	2	2004	In conclusion, our results provide a strong evidence that in healthy Sicilians ageing may be characterized by a low frequency of PON1 (-107)T 'risk' allele and by an high frequency of favourable genotypes such as (-107)CC, influencing PON1 activity and HDL-C levels.	Case:100 healthy octogenarians:Sicily, Italy;Control:200:adults										
132821	Y	longevity	AGING	AGE	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Christiansen, L.  et al. 2004	15241482				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Denmark	CDC GDPinfo	5444	Hs.370995			European journal of human genetics. 2004 Oct;12(10):843-7	Paraoxonase 1 polymorphisms and survival.		168820	13229	2	2004	Our results thus indicates that PON1 192RR homozygosity is associated with increased mortality in women in the second half of life and that this increased mortality is possibly related to CHD severity and survival after CHD rather than susceptibility to development of CHD.	Cohort 1,932 Danish individuals aged 47-93 years 										
132822	N	kidney transplant complications; lipids	IMMUNE	IMM	Cardiovascular Diseases|Postoperative Complications	7	7q21.3	PON1	94764923	94791780		Agachan, B.  et al. 2004	15251338				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Turkish	Turkey	CDC GDPinfo	5444	Hs.370995			Transplantation proceedings. 2004 Jun;36(5):1385-6	Paraoxonase 192 polymorphism and its relationship to serum lipids in Turkish renal transplant recipients.		168820	13230	2	2004	 We have shown that the 192 polymorphism of the PON1 gene is not associated with increased cardiovascular risk in renal transplant recipients.	Control:26 control subjects;Case:29 renal transplant recipients										
132817	Y	beta-cell function	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Chiu, K. C.  et al. 2004	15097870				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Pancreas. 2004 May;28(4):e96-103	Association of paraoxonase 1 polymorphism with beta-cell function: a case of molecular heterosis.		168820	13225	2	2004	Our observations suggest that this polymorphism could play a role in beta-cell dysfunction.	Cohort 84 healthy and glucose-tolerant white subjects who underwent an oral glucose tolerance test 										
132818	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Agachan, B.  et al. 2004	15124181	Q/R192, M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Turkish	Turkey	CDC GDPinfo	5444	Hs.370995			Cell biochemistry and function. 2004 May-Jun;22(3):163-8	Paraoxonase 55 and 192 polymorphism and its relationship to serum paraoxonase activity and serum lipids in Turkish patients with non-insulin dependent diabetes mellitus.		168820	13226	2	2004	In conclusion, our results suggest that the paraoxonase activities are affected by PON1 genetic variability in Turkish NIDDM patients and controls.	Control:116 non-diabetic controls;Case:213 non-insulin dependent diabetes individuals:Turkey										
132819	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Lawlor, D. A.  et al. 2004	15214960	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Great Britain	CDC GDPinfo	5444	Hs.370995			BMC genetics [electronic resource]. 2004 Jun;5:17	The association of the PON1 Q192R polymorphism with coronary heart disease: findings from the BritishWomen's Heart and Health cohort study and a meta-analysis.		168820	13227	2	2004	 There is no robust evidence that the PON1 Q192R polymorphism is associated with CHD risk in Caucasian women or men.	Cohort a large cohort of British women UK 										
132814	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Voetsch, B.  et al. 2004	15023811			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Archives of neurology. 2004 Mar;61(3):351-6	The combined effect of paraoxonase promoter and coding region polymorphisms on the risk of arterial ischemic stroke among young adults.		168820	13222	2	2004	 These findings suggest that the PON1 -107T allele is independently associated with the risk of AIS, in addition to interacting with and potentiating the risk conferred by the Q192R polymorphism.	Control:118 controls, matched simultaneously for age and sex;Case:118 young patients (age, <45 years) with a first nonfatal arterial ischemic stroke of undetermined:etiology										
132815		longevity	AGING	AGE		7	7q21.3	PON1	94764923	94791780		Rea, I. M.  et al. 2004	15050299	Q/R192, M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Italian, Irish		CDC GDPinfo	5444	Hs.370995			Experimental gerontology. 2004 Apr;39(4):629-35	Paraoxonase polymorphisms PON1 192 and 55 and longevity in Italian centenarians and Irish nonagenarians. A pooled analysis		168820	13223	2	2004	 These data suggest a modest association between the 192R allele and longevity in two very elderly populations in two European countries. Being homozygous for 192 RR further enhances survival advantage but this effect was not found to be sex specific. This finding is of interest because the 192R allele has previously been associated with increased risk of coronary heart disease. On the other hand, the 192R allele shows higher enzymatic activity, using paraoxon as substrate, and we postulate that its role in the metabolism of potentially toxic chemicals or other metabolic pathways may be important in survival to very old age.	Case:308/296 Italian centenarians (n=308) and Northern Italian:octo/nonagenarians (n=296) Italy and Northern Italy;Control:579/296 young Italian controls (n=579) and Northern Italian young sex-matched subjects (n=296)										
132816	N	carotid intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypercholesterolemia	7	7q21.3	PON1	94764923	94791780		Campo, S.  et al. 2004	15087255			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Sicily	CDC GDPinfo	5444	Hs.370995			Clinical biochemistry. 2004 May;37(5):388-94	The paraoxonase promoter polymorphism (-107)T>C is not associated with carotid intima-media thickness in Sicilian hypercholesterolemic patients.		168820	13224	2	2004	 In conclusion, our data provided no evidence of a significant association between either PON1 promoter (-107)T>C or coding region, Q192R and L55M, polymorphisms and early carotid atherosclerosis in Sicilian hypercholesterolemic subjects.	Cohort 208 Sicilian subjects with primary hypercholesterolemia Sicily 										
132811		paraoxonase activity	NORMALVARIATION	NV	Arteriosclerosis	7	7q21.3	PON1	94764923	94791780		Hernandez, A. F.  et al. 2003	14686479				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Human & experimental toxicology. 2003 Nov;22(11):565-74	Paraoxonase activity and genetic polymorphisms in greenhouse workers with long term pesticide exposure		168820	13219	2	2003	This study suggests that chronic exposure to pesticides might decrease PON1 activity and pinpoints the potential usefulness of monitoring PON1 activity in occupational settings where exposure to organophosphates occurs.	Case:102 individuals with long term low dose exposure to pesticides in a plastic greenhouse setting (sprayers), who are probably the group of agricultural workers with the highest exposure to:pesticides;Control:39 nonsprayer controls										
132812	Y	cholesterol, HDL; triglycerides; lipids	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Manresa, J. M.  et al. 2004	14967092	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Med Clin (Barc). 2004 Feb;122(4):126-9	[Paraoxonase 1 gene 192 polymorphism, physical activity and lipoprotein in women]		168820	13220	2	2004	 The results of this study suggest that PON1-192 polymorphism could modulate the effect of physical activity on HDL-C concentration and on triglyceride-rich lipoprotein catabolism in non-menopausal women.	Cohort 651 women classified into three categories by tertiles of daily physical activity 	physical activity									
132813		dementia	PSYCH	PSY	Dementia	7	7q21.3	PON1	94764923	94791780		Helbecque, N.  et al. 2004	15016430				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Neuroscience letters. 2004 Mar;358(1):41-4	Paraoxonase 1 gene polymorphisms and dementia in humans.		168820	13221	2	2004	The two polymorphisms were independent risk factors for nonAD dementia, particularly in APOE-4 noncarriers. An at-'risk haplotype' could be constructed including the Gln192 and the T-107 alleles, suggesting that subjects at risk have lower plasma paraoxonase levels and this enzyme is less active.	Case dementia cases;Control:controls										
132808	Y	cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction|Hypertension|Diabetes Mellitus	7	7q21.3	PON1	94764923	94791780		Ueno, T.  et al. 2003	12824947	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese	Japan	CDC GDPinfo	5444	Hs.370995			Medical science monitor. 2003 Jun;9(6):CR208-12	Paraoxonase1 polymorphism Leu-Met55 is associated with cerebral infarction in Japanese population.		168820	13216	2	2003	 These findings suggest that the enzyme might be involved in the development of atherosclerosis of cerebral arteries. Moreover, this finding might indicates that the genetic markers in Japanese linked to distinct genetic event from Caucasians.	Control:106 healthy Japanese individuals;Case:112 unrelated Japanese cerebral infarct patients										
132809	Y	carotid artery damage	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Hu, Y.  et al. 2003	12849920	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	CDC GDPinfo	5444	Hs.370995			Diabetes research and clinical practice. 2003 Jul;61(1):21-7	Gln-Arg192 polymorphism of paraoxonase 1 is associated with carotid intima-media thickness in patients of type 2 diabetes mellitus of Chinese.		168820	13217	2	2003	Our data support the view that 192 R allele of PON(1) gene is a risk factor for macrovascular disease of T2DM in Chinese.	Control:128 Chinese Han healthy subjects;Case:152 Chinese Han type 2 diabetic patients:ChengDu, China										
132810	Y	diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Kidney Diseases|Diabetes Mellitus, Type 1	7	7q21.3	PON1	94764923	94791780		Zhang, B.  et al. 2003	14579940	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical nephrology. 2003 Oct;60(4):257-65	Paraoxonase (Pon1) Q192R polymorphism and serum Pon1 activity in diabetic patients on maintenance hemodialysis.		168820	13218	2	2003	In conclusion, Pon1 status and HDL levels are independently associated with DM in patients on hemodialysis and may contribute to the increased risk of CHD in diabetic nephropathy.	Case:56 type 2 diabetic patients on maintenance:hemodialysis;Control:89 non-diabetic patients										
132805	Y	diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Ikeda, Y.  et al. 2003	12706315				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese	Japan	CDC GDPinfo	5444	Hs.370995			Diabetes research and clinical practice. 2003 May;60(2):79-85	Relationships between polymorphisms of the human serum paraoxonase gene and insulin sensitivity in Japanese patients with type 2 diabetes.		168820	13213	2	2003	The PON1 promoter polymorphism C(-108)T may influence insulin sensitivity by modulating serum antioxidant capacity.	Cohort 48 Japanese patients with type 2 diabetes 										
132806	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.3	PON1	94764923	94791780		Marchesani, M.  et al. 2003	12783936	I102V			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Finnish	Finland	CDC GDPinfo	5444	Hs.370995			Journal of the National Cancer Institute. 2003 Jun;95(11):812-8	New paraoxonase 1 polymorphism I102V and the risk of prostate cancer in Finnish men.		168820	13214	2	2003	 The PON1 102V allele appears to be associated with an increased risk for prostate cancer.	Cohort 100 men with the lowest paraoxonase activity in a cohort of 835 healthy men in the Kuopio Ischaemic Heart Disease Risk Factor Study Finland ;Case:69 prostate cancer cases;Control:69 unmatched healthy controls										
132807		uremia	METABOLIC	MET	Uremia	7	7q21.3	PON1	94764923	94791780		Biasioli, S.  et al. 2003	12790379				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			ASAIO J. 2003 May-Jun;49(3):295-9	Paraoxonase activity and paraoxonase 1 gene polymorphism in patients with uremia.		168820	13215	2	2003	The main cause may be identified in the different distribution of HDL subspecies, rather than in the different PON1 allele distribution between healthy subjects and patients with uremia.	Case patients with uremai on hemodialysis;Control healthy subjects										
132802	Y	Alzheimer's disease; atherosclerosis, coronary	NEUROLOGICAL	NEUR	Alzheimer Disease|Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780		Scacchi, R.  et al. 2003	12618290	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Neuroscience letters. 2003 Mar;339(1):17-20	Different pattern of association of paraoxonase Gln192-->Arg polymorphism with sporadic late-onset Alzheimer's disease and coronary artery disease.		168820	13210	2	2003	The odds ratios (OR) adjusted for age, gender, and APOE polymorphism by logistic regression analysis highlighted that in AD the PON1 RR genotype was significantly protective (OR=0.41, 95% CI=0.19-0.90; P=0.025), whereas in CAD it appeared to be a significant risk factor (OR=5.11, 95% CI=1.09-23.9; P=0.038) limited to younger patients.	Case coronary artery disease patients;Control:controls										
132803	Y	pesticide toxicity	METABOLIC	MET	Chronic Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Lee, B. W.  et al. 2003	12625227				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of occupational and environmental medicine. 2003 Feb;45(2):118-22	Association between human paraoxonase gene polymorphism and chronic symptoms in pesticide-exposed workers.		168820	13211	2	2003	The PON genotype is an important determinant of a farmworker's susceptibility to chronic pesticide poisoning.	Cohort 100 farm workers Western Cape, South Africa 										
132804	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.3	PON1	94764923	94791780		Kelada, S. N.  et al. 2003	12640090			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of neurology, neurosurgery, and psychiatry. 2003 Apr;74(4):546-7	Paraoxonase 1 promoter and coding region polymorphisms in Parkinson's disease.		168820	13212	2	2003	In contrast with reports of Kondo and Yamamato () and Akhmedova et al. (), our results do not indicate that PD is associated with specific PON1 genotypes. In addition to the coding region polymorphisms investigated previously, we assessed the role of two promoter mutatiosn but found no evidence of association. These findings suggest that PON1 genotypes may not be predictive of PD, althogh there remains the possibility of interactions with pesticide esposures. Considerably larger studies will be required to investigate such interactions.	Case:150 non-Hispanic white newly diagnosed idiopathic Parkinson's disease patients:Washington, US;Control:244 non-Hispanic white controls identified from GHC Center enrolles without past histories of PD or other NEUROLOGICALenerative disorders.										
132799	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Pola, R.  et al. 2003	12566597	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Italian	Italy	CDC GDPinfo	5444	Hs.370995			Dementia and geriatric cognitive disorders. 2003 ;15(2):88-91	Lack of association between Alzheimer's disease and Gln-Arg 192 Q/R polymorphism of the PON-1 gene in an Italian population.		168820	13207	2	2003	These results suggest that the human Gln-Arg 192 Q/R polymorphism of the PON-1 gene is not associated with AD in an Italian population.	Case:124 Italian subjects affected by probable Alzheimer's:disease;Control:135 age- and sex-matched controls										
132800		lipid metabolism disorders	METABOLIC	MET	Hypertriglyceridemia	7	7q21.3	PON1	94764923	94791780		Liu, R.  et al. 2002	12575193	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Hua xi yi ke da xue xue bao. 2002 Apr;33(2):229-32	[The paraoxonase Gln-Arg 192 polymorphism in patients with endogenous hypertriglyceridemia in Chinese population]		168820	13208	2	2002	 These may be an association of the QQ genotype of the paraoxonase 192 Gln-Arg polymorphism with the decrease of serum apoA I level and the increase of serum apoE level in endogenous hypertriglyceridemica.	Case:128 Chinese patients with endogenous:hypertriglyceridemia:Chengdu, China;Control:129 healthy subjects										
132801	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Fortunato, G.  et al. 2003	12618279	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2003 Mar;167(1):141-8	A paraoxonase gene polymorphism, PON 1 (55), as an independent risk factor for increased carotid intima-media thickness in middle-aged women.		168820	13209	2	2003	IY coYclusioY, POY 1 (LL+ML) 55 but Yot POY 1 (Q/R) 192 or POY 2 (S/C) 311, appears to be aY iYdepeYdeYt risk factor for iYcreased carotid IMT iY middle-aged womeY.	Cohort 310 middle-aged women with carotid plaques 										
132796	Y	oxidative stress	OTHER	OTH	Cardiovascular Diseases	7	7q21.3	PON1	94764923	94791780		Bub, A.  et al. 2002	12474066	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			European journal of nutrition. 2002 Dec;41(6):237-43	Paraoxonase 1 Q192R (PON1-192) polymorphism is associated with reduced lipid peroxidation in R-allele-carrier but not in QQ homozygous elderly subjects on a tomato-rich diet.		168820	13204	2	2002	 The changes in antioxidant status after tomato juice consumption seem to depend on the PON1-192 genotype. Healthy elderly, carrying the R-allele, could specifically reduce their higher cardiovascular risk by changing dietary habits.	Cohort 50 elderly subjects were randomly assigned to control (mineral water) or intervention group (tomato juice) 										
132797		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		Dantoine, T. F.  et al. 2002	12480756				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Annals of the New York Academy of Sciences. 2002 Nov;977:239-44	Paraoxonase 1 192/55 gene polymorphisms in Alzheimer's disease.		168820	13205	2	2002	Changes in 192 polymorphism distributions in AD and in VaD may at least partially explain the significant difference in PON1a in these two types of dementia.	Control:64 healthy subjects;Case:72 patients with Alzheimer's disease										
132798	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Liu, R.  et al. 2001	12536571	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Hua xi yi ke da xue xue bao. 2001 Sep;32(3):385-8	[The paraoxonase Gln-Arg192 polymorphism in patients with coronary heart disease in Chinese population]		168820	13206	2	2001	 These results suggested that the Gln-Arg192 polymorphism of the PON1 gene was not associated with coronary heart disease in Chinese population.	Case:118 Chinese Han coronary heart disease patients:Chengdu, China;Control:128 healthy subjects										
132793	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.3	PON1	94764923	94791780		Carmine, A.  et al. 2002	12210872	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Sweden	CDC GDPinfo	5444	Hs.370995			Movement disorders. 2002 Jul;17(4):764-6	Further evidence for an association of the paraoxonase 1 (PON1) Met-54 allele with Parkinson's disease.		168820	13201	2	2002	Our data confirm an association between the PON1 Leu-Met 54 polymorphism and PD by demonstrating a similar association. The distribution between familial and nonfamilial PD patients was equal. No other synonymous or nonsynonymous polymorphisms were found in the sequenced coding region of PON1.	Case:114 patients with Parkinson's disease;Control:127 healthy individuals										
132794	Y	cholesterol, LDL; cholesterol, total	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Senti, M.  et al. 2002	12241013	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical chemistry and laboratory medicine. 2002 Jul;40(7):677-83	The paraoxonase-1 codon 192 polymorphism is associated with fasting total cholesterol and LDL-cholesterol concentrations only in postmenopausal women. The REGICOR study.		168820	13202	2	2002	The findings suggest a gender-specific lipoprotein-genotype association with PON1 codon 192 genotypes in this study sample.	Cohort 1380 subjects (724 mean and 656 women) 										
132795	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Watzinger, N.  et al. 2002	12417809				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Austria	CDC GDPinfo	5444	Hs.370995			Cardiology. 2002 ;98(3):116-22	Human paraoxonase 1 gene polymorphisms and the risk of coronary heart disease: a community-based study.		168820	13203	2	2002	These data suggest that the paraoxonase LL genotype at position 55 may present a risk factor for CHD.	Cohort 152/151 women (n=152) and men (n=151) in a community-dwelling cohort of European ancestry randomly selected out of 1,998 individuals 										
132790	N	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Ferre, N.  et al. 2002	12074827	Q/R192, M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinical biochemistry. 2002 May;35(3):197-203	Paraoxonase Gln-Arg(192) and Leu-Met(55) gene polymorphisms and enzyme activity in a population with a low rate of coronary heart disease.		168820	13198	2	2002	 None of the PON1 polymorphisms or their corresponding measured activities are independent risk factors for MI in our population.	Control age-matched controls;Case:215 male survivors of a MI										
132791		longevity	AGING	AGE		7	7q21.3	PON1	94764923	94791780		Bonafe, M.  et al. 2002	12082503	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			European journal of human genetics. 2002 May;10(5):292-6	Genetic analysis of Paraoxonase (PON1) locus reveals an increased frequency of Arg192 allele in centenarians.		168820	13199	2	2002	In conclusion, we propose that genetic variability at PON1 locus affects survival at extreme advanced age.	Case:308:centenarians;Control:579 people aged 20 to 65 years old										
132792	Y	atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Gnasso, A.  et al. 2002	12204800	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2002 Oct;164(2):289-95	The Arg allele in position 192 of PON1 is associated with carotid atherosclerosis in subjects with elevated HDLs.		168820	13200	2	2002	In conclusion, in subjects with low levels of HDL cholesterol, carotid atherosclerosis is not related to PON1-192 polymorphism. On the other hand, in subjects with elevated concentration of HDL cholesterol, the presence of carotid atherosclerosis is significantly associated with the arginine variant in position 192 of the PON1 gene.	Cohort 347 subjects in the upper and lower decile of sex-specific HDL cholesterol distribution were selected from participants in a cardiovascular disease prevention study 										
132787	Y	glucose response	METABOLIC	MET	Coronary Disease|Insulin Resistance|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Deakin, S.  et al. 2002	11889198	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			The Journal of clinical endocrinology and metabolism. 2002 Mar;87(3):1268-73	Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tolerance test and differentiates high risk coronary disease families.		168820	13195	2	2002	The study demonstrates an association between PON1 gene polymorphisms and glucose metabolism. The L55M-glucose interaction differentiated offspring of high CHD risk families, suggesting that it may be of particular relevance for vascular disease and possibly other diabetic complications.											
132788		paraoxonase1 activity	NORMALVARIATION	NV	Coronary Disease|Body Weight	7	7q21.3	PON1	94764923	94791780		Tomas, M.  et al. 2002	11971942	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of lipid research. 2002 May;43(5):713-20	Paraoxonase1-192 polymorphism modulates the effects of regular and acute exercise on paraoxonase1 activity.		168820	13196	2	2002	These results suggest that the effects of regular and acute exercise on PON1 activity levels are modulated by PON1-192 polymorphism. Changes were less evident for the PON1-55 polymorphism.	Cohort 17 healthy young volunteers before and after a 16-weeks aerobic exercise training period 	physical activity									
132789	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Voetsch, B.  et al. 2002	12052975	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Brazil	CDC GDPinfo	5444	Hs.370995			Stroke; a journal of cerebral circulation. 2002 Jun;33(6):1459-64	Paraoxonase 192 Gln-->Arg polymorphism: anindependent risk factor for nonfatal arterial ischemic stroke among young adults.		168820	13197	2	2002	 These findings suggest that the PON 192RR genotype is independently associated with an increased risk of nonfatal AIS among young adults. Further studies are necessary to understand better the mechanistic implications of these observations in the development of AIS in the young.	Control sex-matched controls;Case:118 patients (64 women) with a first nonfatal AIS										
132784	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q21.3	PON1	94764923	94791780		Matsumoto, C.  et al. 2001	11880198	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Neuroscience letters. 2002 Mar;321(3):165-8	Analysis of association between the Gln192Arg polymorphism of the paraoxonase gene and schizophrenia in humans.		168820	13192	2	2001	Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be involved in the susceptibility to schizophrenia	Control:177 controls not otherwise specified;Case:244 schizophrenia patients										
132785	Y	lipids; myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Vascular Diseases	7	7q21.3	PON1	94764923	94791780		Leviev, I.  et al. 2002	11888532			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2002 Apr;161(2):463-7	High expressor paraoxonase PON1 gene promoter polymorphisms are associated with reduced risk of vascular disease in younger coronary patients		168820	13193	2	2002	The data are consistent with the high expressor promoter genotype being linked to reduced risk of myocardial infarction. The influence of the genotype may be compromised in older patients.	Cohort the ECTIM2 population 										
132786		ill health, sheep dip related	OTHER	OTH	Agricultural Workers' Diseases	7	7q21.3	PON1	94764923	94791780		Cherry, N.  et al. 2002	11888590				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Lancet. 2002 Mar;359(9308):763-4	Paraoxonase (PON1) polymorphisms in farmers attributing ill health to sheep dip.		168820	13194	2	2002	Our results support the hypothesis that organophosphates contribute to the reported ill health of people who dip sheep.	Case:175 farmers with ill health;Control:234 referent farmers who also dipped sheep and whom they believed to be in good health.										
132781	Y	glucose; paraoxonase-1	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Leviev, I.  et al. 2001	11596674	T(-107)C		promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Diabetologia. 2001 Sep;44(9):1177-83	The paraoxonase PON1 promoter polymorphism C(-107)T is associated with increased serum glucose concentrations in non-diabetic patients.		168820	13188	2	2001	The promoter polymorphism C(-107)T is a marker for abnormal fasting glucose concentrations in non-diabetic patients. It could indicate an active role for paraoxonase-1, possibly pre-disposing to insulin resistance, or linkage of paraoxonase-1 polymorphisms with other gene products implicated in glucose metabolism.	Cohort non-diabetic patients Cohort Type II (non-insulin-dependent) diabetic patients 										
132782	N	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	7	7q21.3	PON1	94764923	94791780		Arca, M.  et al. 2002	11851721				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Italian	Italy	CDC GDPinfo	5444	Hs.370995			European journal of clinical investigation. 2002 Jan;32(1):15-Sep	PON1 L55M polymorphism is not a predictor of coronary atherosclerosis either alone or in combination with Q192R polymorphism in an Italian population.		168820	13190	2	2002	 These findings did not indicate a major effect of the PON1 L55M polymorphism, either alone or in combination with the Q192R polymorphism, on CAD risk. Additional studies are needed for a better evaluation of the role of the 55/192 PON1 genotypes in combination on myocardial infarction risk.	Control:178 healthy controls;Control:196 subjects with normal coronary arteries (< 10% stenosis) (CAD[minus sign]);Case:391 subjects with significant coronary stenosis (> 50%) (coronary artery disease-positive; CAD+)										
132783		nephropathy in other diseases	RENAL	REN		7	7q21.3	PON1	94764923	94791780		Zhou, Z.  et al. 2000	11860890				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese		CDC GDPinfo	5444	Hs.370995			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2000 Jan;34(1):20-1	[Activity of serum paraoxonase and its polymorphism in healthy Chinese of Shanghai]		168820	13191	2	2000	 Distribution of serum paraoxonase in healthy people of Shanghai was different from that in Caucasians.	Cohort 198 subjects (105 males and 93 female, aged 21 - 61 years) Shanghai 										
132779	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Leviev, I.  et al. 2001	11511976	T(-107)C		promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of molecular medicine (Berlin, Germany). 2001 Aug;79(8):457-63	Paraoxonase promoter polymorphism T(-107)C and relative paraoxonase deficiency as determinants of risk of coronary artery disease.		168820	13186	2	2001	The results indicate that in this population of patients the promoter polymorphism T(-107)C of the PON1 gene is an independent risk factor for coronary disease in those 60 years or younger. The data are consistent with the hypothesis that lower expression of this anti-oxidant enzyme increases risk of coronary disease. Ageing has also been identified as an independent determinant of serum paraoxonase levels. Ageing is correlated with reduced serum paraoxonase levels, which may compromise the protective influence of enzyme. The results are consistent with the contention that the protective, anti-oxidant capacity of high density lipoproteins is at least in part genetically determined.	Cohort 897 Participants were recruited from a cardiology department who underwent coronary arteriography and were defined as coronary artery disease positive (n=699) or negative (n=198). 										
132780	Y	atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Malin, R.  et al. 2001	11555845				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Finland	CDC GDPinfo	5444	Hs.370995			Metabolism:  clinical and experimental. 2001 Sep;50(9):1095-101	Relationship between high-density lipoprotein paraoxonase gene M/L55 polymorphism and carotid atherosclerosis differs in smoking and nonsmoking men.		168820	13187	2	2001	These data suggest that in nonsmoking men, a PON L55/L55 genotype may represent a genetic risk factor for CAAD. The reverse effect in smokers implies that the ability of PON to protect against CAAD is influenced by cigarette smoking. The efficiency of this inhibition probably depends on the PON M/L55 genotype.	Case:112 smokers or previous smokers:Cohort:199 randomly selected men (mean age 54.2 +/- 3.0 years);Control:87:nonsmokers	smoking (tobacco)									
132775	N	lipoproteins	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Malin, R.  et al. 2001	11428219	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Finnish		CDC GDPinfo	5444	Hs.370995			International journal of circumpolar health. 2001 Jan;60(1):16-24	Serum lipid levels and M/L55 allele distribution of HDL paraoxonase gene in Saami and Finnish men.		168820	13182	2	2001	Our results indicate that the PON M/L55 genotype is not associated with plasma lipid levels or the levels of autoantibodies against oxidized LDL in these populations. The Saami men have the same PON M/L55 allele distribution as the Finnish men and the PON genotype might thus not be one factor protecting Saami against CAD.	Cohort 136 68 Saami and 68 Finnish men Fennoscandia 										
132776	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Constriction, Pathologic	7	7q21.3	PON1	94764923	94791780		Malin, R.  et al. 2001	11472729	M/L55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2001 Aug;157(2):301-7	Paraoxonase producing PON1 gene M/L55 polymorphism is related to autopsy-verified artery-wall atherosclerosis		168820	13183	2	2001	This study demonstrates that PON L55 homozygosity is an independent risk factor for autopsy-verified atherosclerosis in Finns.	Cohort 123 consecutive autopsy cases (90 males and 33 females, aged 18-93 years) 										
132777	Y	macular degeneration	VISION	VIS	Macular Degeneration	7	7q21.3	PON1	94764923	94791780		Ikeda, T.  et al. 2001	11476678				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			American journal of ophthalmology. 2001 Aug;132(2):191-5	Paraoxonase gene polymorphisms and plasma oxidized low-density lipoprotein level as possible risk factors for exudative age-related macular degeneration		168820	13184	2	2001	 These results indicate that the paraoxonase gene polymorphisms may represent a possible genetic risk factor for age-related macular degeneration and that increased plasma oxidized low-density lipoprotein may be involved in the pathogenesis of age-related macular degeneration.	Control:140 age- and sex-matched control subjects;Case:72 unrelated patients with exudative age-related macular degeneration										
132772	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.3	PON1	94764923	94791780		Akhmedova, S. N.  et al. 2001	11239953	Met--Leu 54			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of the neurological sciences. 2001 Mar;184(2):179-82	Paraoxonase 1 Met--Leu 54 polymorphism is associated with Parkinson's disease.		168820	13179	2	2001	We suggest that the Met 54 allele may be considered to be an independent risk factor for PD. This mutation could probably cause PON1 impaired metabolism of environmental neurotoxins and might be responsible for NEUROLOGICALeneration.	Control unspecified controls;Case:117 patients with sporadic idiopathic PD										
132773		coronary artery disease; lipoproteins; fluvastatin, clinical events with; treatment with fluvastatin, response to	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Progression	7	7q21.3	PON1	94764923	94791780		Turban, S.  et al. 2001	11257264	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Atherosclerosis. 2001 Feb;154(3):633-40	A prospective study of paraoxonase gene Q/R192 polymorphism and severity, progression and regression of coronary atherosclerosis, plasma lipid levels, clinical events and response to fluvastatin.		168820	13180	2	2001	the Q/R192 polymorphism is not a major risk factor in susceptibility to CAD in the LCAS population.	Cohort 356 subjects in the Lipoprotein and Coronary Atherosclerosis Study 	fluvastatin									
132774	N	diabetes, type 2; cerebrovascular disease	METABOLIC	MET	Cerebrovascular Disorders|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Koch, M.  et al. 2001	11409295	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Experimental and clinical endocrinology & diabetes. 2001 ;109(3):141-5	Paraoxonase 1 192 Gln/Arg gene polymorphism and cerebrovascular disease: interaction with type 2diabetes.		168820	13181	2	2001	Our data indicate that in the general population the PON1 192 Gln/Arg gene polymorphism cannot be regarded as a major risk marker for cerebrovascular disease. The observed interaction with type 2 diabetes, however, is supporting the hypothesis that the effect of the PON1 192 Arg allele on atherosclerosis is modulated by other risk factors like diabetes.	Case:149 patients with hemodynamically relevant extracranial artery stenosis;Control:241 individuals withour cerebrovascular disease										
132769	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Wang, J.  et al. 2000	11104219				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	CDC GDPinfo	5444	Hs.370995			Movement disorders. 2000 Nov;15(6):1265-7	No association between paraoxonase 1 (PON1) gene polymorphisms and susceptibility to Parkinson's disease in a Chinese population.		168820	13176	2	2000	In summary, our results suggest that the codon 54 and 192 polymorphisms of the PON1 gene do not confer genetic susceptibility to PD in the Chinese population tested, even in patients with early-onset PD, in which genetic factors appear to be important.	Case:180 Chinese patients with Parkinson's disease;Control:180 healthy unrelated control subjects matched for age, gender, ethnic origin, and area of residence.										
132770	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Araki, S.  et al. 2000	11151764				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Diabetologia. 2000 Dec;43(12):1540-3	Polymorphisms of human paraoxonase 1 gene (PON1) and susceptibility to diabetic nephropathy in type I diabetes mellitus.		168820	13177	2	2000	The three polymorphisms in paraoxonase gene 1 that have been associated with serum levels of paraoxonase are not associated with diabetic nephropathy. We show that this genetically determined component of the antioxidant capacity of HDL does not play a critical part in the development of diabetic nephropathy.	Control:179 unrelated patients with Type I diabetes but without diabetic nephropathy despite the duration of diabetes of 15 or more years;Case:188 patients with Type I (insulin-dependent) diabetes mellitus and diabetic nephropathy										
132771		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3	PON1	94764923	94791780		Senti, M.  et al. 2001	11231922	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Arteriosclerosis, thrombosis, and vascular biology. 2001 Mar;21(3):415-20	Paraoxonase1-192 Polymorphism Modulates the Nonfatal Myocardial Infarction Risk Associated With Decreased HDLs		168820	13178	2	2001	The risk of nonfatal MI is increased in HDL-deficiency states, principally among subjects carrying the low paraoxon-activity QQ genotype.	Case:280 consecutive MI patients;Control:296 unspecified controls										
132766	Y	chronic symptoms in pesticide-exposed workers	METABOLIC	MET	Chronic Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Lee BW et al. 2003	12625227				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Journal of occupational and environmental medicine. 2003 Feb;45(2):118-22	Association between human paraoxonase gene polymorphism and chronic symptoms in pesticide-exposed workers.		168820	8105	1	2003	The PON genotype is an important determinant of a farmworker's susceptibility to chronic pesticide poisoning.	Cohort 100 farm workers Western Cape, South Africa										
132767	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q21.3	PON1	94764923	94791780		Matsumoto C et al. 2002	11880198				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Neuroscience letters. 2002 Mar;321(3):165-8	Analysis of association between the Gln192Arg polymorphism of the paraoxonase gene and schizophrenia in humans.		168820	8107	1	2002	Our results suggest that the Gln192Arg polymorphism of the PON1 gene may not be involved in the susceptibility to schizophrenia	Control:177 controls not otherwise specified;Case:244 schizophrenia patients										
132768	Y	glomerulosclerosis, focal	RENAL	REN	Glomerulosclerosis, Focal Segmental	7	7q21.3	PON1	94764923	94791780		Frishberg, Y.  et al. 2000	11096050				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Israel	CDC GDPinfo	5444	Hs.370995			American journal of kidney diseases. 2000 Dec;36(6):1253-61	Genetic polymorphism in paraoxonase is a risk factor for childhood focal segmental glomerulosclerosis		168820	13175	2	2000	A trend in association was found between homozygosity for the L allele and progression of renal disease in Arab children. Homozygosity for the L allele is a risk factor for developing FSGS in Arab children and may be associated with a worse prognosis.	Control:274 healthy controls of matching ethnic origin;Case:47 children (21 Arab and 26 Jewish) with biopsy-proven:FSGS										
132763	Y	more degree of homeostasis model assessment IR	NORMALVARIATION	NV	Cardiovascular Diseases|Insulin Resistance	7	7q21.3	PON1	94764923	94791780		Barbieri M et al. 2002	11788650				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			The Journal of clinical endocrinology and metabolism. 2002 Jan;87(1):222-5	LL-paraoxonase genotype is associated with a more severe degree of homeostasis model assessment IR in healthy subjects.		168820	8090	1	2002	In conclusion, the presence of LL PON genotype is associated with a more severe degree of IR. Thus, IR might be the possible missing link between Met-Leu 54 PON polymorphism and the increased cardiovascular risk.	Cohort 213 healthy subjects										
132764	N	cerebral amyloid angiopathy.	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease|Arteriosclerosis	7	7q21.3	PON1	94764923	94791780	n	Yamada M et al. 2002	11935033				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Japan	KGB	5444	Hs.370995			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):896-900	No association of paraoxonase genotype or atherosclerosis with cerebral amyloid angiopathy.		168820	8091	1	2002	 The PON1 polymorphism and atherosclerosis would not appear to be associated with risk of CAA in the elderly, although further study with larger samples is necessary for confirmation.											
132765	Y	HDL-cholesterol level	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Obata T et al. 2003	12621166				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Journal of atherosclerosis and thrombosis. 2003 ;10(1):57-62	R192Q paraoxonase gene variant is associated with a change in HDL-cholesterol level during dietary caloric restriction in nondiabetic healthy males.		168820	8098	1	2003	PON R192Q polymorphism could affect HDL-C levels after caloric restriction presumably due to decreased HL activity and altered insulin resistance.	Cohort nondiabetic healthy males										
132760		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Tsuzura S 2004	15015140	TT of -108C/T		5' promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Metabolism:  clinical and experimental. 2004 Mar;53(3):297-302	Correlation of plasma oxidized low-density lipoprotein levels to vascular complications and human serum paraoxonase in patients with type 2 diabetes.		168820	5050	1	2004												
132761	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Pan JP et al. 2002	12433026				paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Taiwan	KGB	5444	Hs.370995			Zhonghua yi xue za zhi. 2002 Sep;65(9):415-21	The risk of coronary artery disease in population of Taiwan is associated with Cys-Ser 311 polymorphism of human paraoxonase (PON)-2 gene.		168820	5051	1	2002	 Our data implicate that the genotypic variation at codon 311 of PON2 contributes to the susceptibility of CAD in the population of Taiwan.											
132762		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Wang X et al. 2003	12588779				paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	KGB	5444	Hs.370995			Arteriosclerosis, thrombosis, and vascular biology. 2003 Feb;23(2):328-34	Extensive association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese Han population.		168820	5052	1	2003	 This extensive association study has identified the PON1 -162G/A and R160G polymorphisms to be independently associated with CHD in Chinese Han population and warrants additional study to elucidate the biological mechanism.											
132756	N	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Wheeler JG 2004	15001326				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Lancet. 2004 Feb;363(9410):689-95	Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies.		168820	5046	1	2004	In contrast to previous suggestions, this meta-analysis shows no significant association of CHD with the L55M or T(-107)C polymorphism in PON1 or with the S311C polymorphism in PON2. The weak overall association between the Q192R polymorphism and CHD is of uncertain relevance, particularly since there was no significant association among the larger studies which should be less prone to selective publication. These findings reinforce the need for much larger and more rigorous investigations of the genetic determinants of complex diseases than is now customary, as well as for regularly updated systematic appraisals of such studies to help improve interpretation and prioritise hypotheses.	Case:11,212 coronary heart disease patients from 43 studies;Control:12,786 controls from 43 studies										
132757	Y	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Voetsch B 2004	15023811			5' promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Archives of neurology. 2004 Mar;61(3):351-6	The combined effect of paraoxonase promoter and coding region polymorphisms on the risk of arterial ischemic stroke among young adults.		168820	5047	1	2004	 These findings suggest that the PON1 -107T allele is independently associated with the risk of AIS, in addition to interacting with and potentiating the risk conferred by the Q192R polymorphism.	Control:118 controls, matched simultaneously for age and sex;Case:118 young patients (age, <45 years) with a first nonfatal arterial ischemic stroke of undetermined:etiology										
132758		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Osei-Hyiaman D 2001	11375798	Q192R			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	Y Wang	5444	Hs.370995	Complications		European journal of endocrinology. 2001 Jun;144(6):639-44	Coronary artery disease risk in Chinese type 2 diabetics: is there a role for paraxonase 1 gene (Q192R) polymorphism?		168820	5048	1	2001	 Frequency of the 192R allele of the human paraoxonase 1 gene may be an independent risk factor for CAD in the Chinese type 2 diabetics studied.	Case:201 201 angiographically documented CAD patients with type 2 diabetes central China;Control:231 subjects with type 2 diabetes central China										
132753	N	diabetes, type 2	METABOLIC	MET	Cerebrovascular Disorders|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Koch M 2001	11409295	192 Gln/Arg			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			Y Wang	5444	Hs.370995	Complications		Experimental and clinical endocrinology & diabetes. 2001 ;109(3):141-5	Paraoxonase 1 192 Gln/Arg gene polymorphism and cerebrovascular disease: interaction with type 2 diabetes.		168820	5043	1	2001	Our data indicate that in the general population the PON1 192 Gln/Arg gene polymorphism cannot be regarded as a major risk marker for cerebrovascular disease. The observed interaction with type 2 diabetes, however, is supporting the hypothesis that the effect of the PON1 192 Arg allele on atherosclerosis is modulated by other risk factors like diabetes.	Case:149 patients with hemodynamically relevant extracranial artery stenosis;Control:241 individuals withour cerebrovascular disease										
132754		dementia	PSYCH	PSY	Dementia	7	7q21.3	PON1	94764923	94791780		Helbecque N 2004	15016430				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Neuroscience letters. 2004 Mar;358(1):41-4	Paraoxonase 1 gene polymorphisms and dementia in humans.		168820	5044	1	2004	The two polymorphisms were independent risk factors for nonAD dementia, particularly in APOE-4 noncarriers. An at-'risk haplotype' could be constructed including the Gln192 and the T-107 alleles, suggesting that subjects at risk have lower plasma paraoxonase levels and this enzyme is less active.	Case dementia cases;Control:controls										
132755	Y	diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Garin MC 1997	9011577				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			Y Wang	5444	Hs.370995	Complications		The Journal of clinical investigation. 1997 Jan;99(1):62-6	Paraoxonase polymorphism Met-Leu54 is associated with modified serum concentrations of the enzyme. A possible link between the paraoxonase gene and increased risk of cardiovascular disease in diabetes.		168820	5045	1	1997												
132750		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Letellier C 2002	12442067				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			Y Wang	5444	Hs.370995	Complications		Diabetes & metabolism. 2002 Sep;28(4 Pt 1):297-304	Serum paraoxonase activity and paraoxonase gene polymorphism in type 2 diabetic patients with or without vascular complications.		168820	5040	1	2002	 The difference in allele frequency for the PON(1) Q/R 192 gene polymorphism may be the cause of the low paraoxonase activity observed in type 2 diabetes mellitus. Further studies need to be conducted to elucidate the role of the enzyme in the development of vascular complications in diabetes.	Case:71 diabetics with vascular complications;Control:96 diabetic patients without vascular complications										
132751	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Hu Y 2003	12849920				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	Y Wang	5444	Hs.370995	Complications		Diabetes research and clinical practice. 2003 Jul;61(1):21-7	Gln-Arg192 polymorphism of paraoxonase 1 is associated with carotid intima-media thickness in patients of type 2 diabetes mellitus of Chinese.		168820	5041	1	2003	Our data support the view that 192 R allele of PON(1) gene is a risk factor for macrovascular disease of T2DM in Chinese.	Control:128 Chinese Han healthy subjects;Case:152 Chinese Han type 2 diabetic patients:ChengDu, China										
132752		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		James RW 2000	10923642				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			Y Wang	5444	Hs.370995	Complications		Diabetes. 2000 Aug;49(8):1390-3	Promoter polymorphism T(-107)C of the paraoxonase PON1 gene is a risk factor for coronary heart disease in type 2 diabetic patients.		168820	5042	1	2000												
132746	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	7	7q21.3	PON1	94764923	94791780	n	Gardemann A et al. 2000	10998471	GlnArg191			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Atherosclerosis. 2000 Oct;152(2):421-31	The paraoxonase Leu-Met54 and Gln-Arg191 gene polymorphisms are not associated with the risk of coronary heart disease.		168820	5036	1	2000	 The present findings do not strengthen the hypothesis that the paraoxonase gene polymorphisms are independently associated with coronary heart disease indicating that these gene variations are of little usefulness as genetic markers of cardiovascular disease.											
132748	Y	plasma lipoproteins	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Fanella S et al. 2000	10952224	PON1 M55			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Canadian aboriginal	Canada	KGB	5444	Hs.370995			Clinical chemistry and laboratory medicine. 2000 May;38(5):413-20	Association between PON1 L/M55 polymorphism and plasma lipoproteins in two Canadian aboriginal populations.		168820	5038	1	2000	Thus, the PON1 M55 allele appeared to be associated with deleterious changes in the plasma lipoprotein profile from two independent Canadian aboriginal samples.											
132749	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780	n	Hirashiki A 2003	14563588	584G3A (Gln192Arg)			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese	Japan	KGB	5444	Hs.370995			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		168820	5039	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
132743	N	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780	n	Sanghera DK et al. 1998	9543091				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	India|China	KGB	5444	Hs.370995			Atherosclerosis. 1998 Feb;136(2):217-23	The codon 55 polymorphism in the paraoxonase 1 gene is not associated with the risk of coronary heart disease in Asian Indians and Chinese.		168820	5033	1	1998												
132744	Y	increased serum glucose concentrations	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Leviev I et al. 2001	11596674			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Diabetologia. 2001 Sep;44(9):1177-83	The paraoxonase PON1 promoter polymorphism C(-107)T is associated with increased serum glucose concentrations in non-diabetic patients.		168820	5034	1	2001	The promoter polymorphism C(-107)T is a marker for abnormal fasting glucose concentrations in non-diabetic patients. It could indicate an active role for paraoxonase-1, possibly pre-disposing to insulin resistance, or linkage of paraoxonase-1 polymorphisms with other gene products implicated in glucose metabolism.	Cohort non-diabetic patients Cohort Type II (non-insulin-dependent) diabetic patients										
132745	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q21.3	PON1	94764923	94791780	0.02	Carmine A et al. 2002	12210872	Leu54Met		coding sequence	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Swedish	Sweden	KGB	5444	Hs.370995			Movement disorders. 2002 Jul;17(4):764-6	Further evidence for an association of the paraoxonase 1 (PON1) Met-54 allele with Parkinson's disease.		168820	5035	1	2002	Our data confirm an association between the PON1 Leu-Met 54 polymorphism and PD by demonstrating a similar association. The distribution between familial and nonfamilial PD patients was equal. No other synonymous or nonsynonymous polymorphisms were found in the sequenced coding region of PON1.	Case:114 patients with Parkinson's disease;Control:127 healthy individuals										
132740	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Sanghera DK et al. 1998	9443862				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Singapore|India	KGB	5444	Hs.370995			American journal of human genetics. 1998 Jan;62(1):36-44	DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease.		168820	5030	1	1998												
132741		coronary artery disease.	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Cascorbi I et al. 1999	10634138				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Pharmacogenetics. 1999 Dec;9(6):755-61	Mutations in the human paraoxonase 1 gene: frequencies allelic linkages and association with coronary artery disease.		168820	5031	1	1999												
132742	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780	n	Pola R et al. 2003	12566597				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Italian	Italy	KGB	5444	Hs.370995			Dementia and geriatric cognitive disorders. 2003 ;15(2):88-91	Lack of association between Alzheimer's disease and Gln-Arg 192 Q/R polymorphism of the PON-1 gene in an Italian population.		168820	5032	1	2003	These results suggest that the human Gln-Arg 192 Q/R polymorphism of the PON-1 gene is not associated with AD in an Italian population.	Case:124 Italian subjects affected by probable Alzheimer's:disease;Control:135 age- and sex-matched controls										
132736	Y	Alzheimer's Disease/Coronary artery disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Coronary Artery Disease	7	7q21.3	PON1	94764923	94791780	0.025	Scacchi R 2003	12618290	PON1*R allele			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KEW	5444	Hs.370995			Neuroscience letters. 2003 Mar;339(1):17-20	Different pattern of association of paraoxonase Gln192-->Arg polymorphism with sporadic late-onset Alzheimer's disease and coronary artery disease.		168820	5026	1	2003	The odds ratios (OR) adjusted for age, gender, and APOE polymorphism by logistic regression analysis highlighted that in AD the PON1 RR genotype was significantly protective (OR=0.41, 95% CI=0.19-0.90; P=0.025), whereas in CAD it appeared to be a significant risk factor (OR=5.11, 95% CI=1.09-23.9; P=0.038) limited to younger patients.	Case coronary artery disease patients;Control:controls										
132737	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780	n	Wang J et al. 2000	11104219				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	KGB	5444	Hs.370995			Movement disorders. 2000 Nov;15(6):1265-7	No association between paraoxonase 1 (PON1) gene polymorphisms and susceptibility to Parkinson's disease in a Chinese population.		168820	5027	1	2000	In summary, our results suggest that the codon 54 and 192 polymorphisms of the PON1 gene do not confer genetic susceptibility to PD in the Chinese population tested, even in patients with early-onset PD, in which genetic factors appear to be important.	Case:180 Chinese patients with Parkinson's disease;Control:180 healthy unrelated control subjects matched for age, gender, ethnic origin, and area of residence.										
132738		PON1 expression	OTHER	OTH	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Suehiro T et al. 2000	10856521				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Atherosclerosis. 2000 Jun;150(2):295-8	A polymorphism upstream from the human paraoxonase (PON1) gene and its association with PON1 expression.		168820	5028	1	2000	The serum PON1 concentrations in 132 normal subjects were as follows: -108CC>-108CT and>-108TT genotypes. The polymorphism upstream from the PON1 gene is associated with transcription of the PON1 gene and the serum PON1 concentration.											
132733	Y	coronary artery disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780	0.0066	Chen Q 2003	12454802	PON1 codon 192 Arg/Arg			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	patients from the Women's Ischemia Syndrome Evaluation study	United States	KEW	5444	Hs.370995	severity		American journal of human genetics. 2003 Jan;72(1):13-22	Association between the severity of angiographic coronary artery disease and paraoxonase gene polymorphisms in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation (WISE) study.		168820	5023	1	2003	Our data indicate that the severity of CAD, in terms of the number of diseased vessels, may be affected by common genetic variation in the PON gene cluster, on chromosome 7.	Cohort 711 subjects (589 whites and 122 blacks) from the Women's Ischemia Syndrome Evaluation (WISE) study										
132734	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780	<0.05	Fortunato G 2003	12618279				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KEW	5444	Hs.370995	increased carotid intima-media thickness		Atherosclerosis. 2003 Mar;167(1):141-8	A paraoxonase gene polymorphism, PON 1 (55), as an independent risk factor for increased carotid intima-media thickness in middle-aged women.		168820	5024	1	2003	IY coYclusioY, POY 1 (LL+ML) 55 but Yot POY 1 (Q/R) 192 or POY 2 (S/C) 311, appears to be aY iYdepeYdeYt risk factor for iYcreased carotid IMT iY middle-aged womeY.	Cohort 310 middle-aged women with carotid plaques										
132735	Y	bone mineral density (BMD)	METABOLIC	MET	Osteoporosis	7	7q21.3	PON1	94764923	94791780	P <0.0001	Yamada Y et al 2003	12955589	PON1- 584A-->G (Gln192Arg) and 172T-->A (Leu55Met) PON2 959G-->C (Cys311Ser)	Humbert et al. (1993) determined that the 584G (192Arg) allele is associated with a higher activity of PON1 in plasma than is the 584A (192Gln) allele. Garin et al. (1997) showed that the plasma concentrations and activities of PON1 decreased according to	coding sequence	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	post menopausal Japanese women	Japan	KGB	5444	Hs.370995			Journal of human genetics. 2003 ;48(9):469-75	Association of polymorphisms of paraoxonase 1 and 2 genes, alone or in combination, with bone mineral density in community-dwelling Japanese.		168820	5025	1	2003	Our results suggest that the paraoxonase 1 and 2 genes are candidate loci for reduced bone mass in postmenopausal Japanese women.	Cohort community-dwelling Japanese (1,087-1,094 women and 1,112-1,125 men) randomly recruited to a population-based prospective cohort study of aging and age-related diseases										
132730		obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Buono, P.  et al. 2005	15951321				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	Italian	Italy	CDC GDPinfo	5443	Hs.1897			Clinical chemistry. 2005 Aug;51(8):1358-64	Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.		176830	23233	2	2005	 We detected 2 new POMC mutations and 4 new MC4R mutations in a large number of severely obese adults living in southern Italy. These mutations, not present in normal-weight individuals, are further evidence that defects in the melanocortin pathway are related to severe obesity.											
132731		obesity; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Obesity, Morbid|Weight Loss|Bulimia	2	2p23.3	POMC	25237225	25245063		Potoczna, N.  et al. 2004	15585384				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			Journal of gastrointestinal surgery. 2004 Dec;8(8):971-81; discussion 981-2	Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity.		176830	25426	2	2004	MC4R variants influence comorbidities and treatment outcomes in severe obesity.	Cohort 300 patients (233 women and 67 men; mean +/- SEM age, 42 +/- 1 years; mean +/- SEM body mass index, 43.5 +/- 0.3 kg/m(2)) undergoing laparoscopic gastric banding 										
132732		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	2	2p23.3	POMC	25237225	25245063		Loos, R. J.  et al. 2004	15597110				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1		Quebec	CDC GDPinfo	5443	Hs.1897			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		176830	27821	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
132727	N	obesity; diabetes, NOS	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Obesity, Morbid	2	2p23.3	POMC	25237225	25245063		Ohshiro, Y.  et al. 2002	12032760				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	Japanese	Japan	CDC GDPinfo	5443	Hs.1897			International journal of obesity and related metabolic disorders. 2002 May;26(5):730-1	Sequence analysis of the pro-opiomelanocortin (POMC) gene in obese/diabetic Japanese.		176830	18969	2	2002	These results suggest that mutations in the POMC gene are unlikely to be a major factor of obesity or diabetes in Japanese subjects.	Control:100:controls;Case:100 obese subjects										
132728		obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Pankov, IuA  et al. 2002	12068494				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			Vopr Med Khim. 2002 Jan-Feb;48(1):121-30	[Screening of mutations in genes of pro-opiomelanocortin in patients with constitutional exogenous obesity]		176830	18970	2	2002		Control:145/170 blood donors (67 women and 78 men) without obesity (n=145, BMI J25 kg/m2, 23.1 2.2 kg/m2) and women without apparent obesity at the beginning of the:study (n=170);Case:228 exogenous obesity (BMI 37.8 6.8 kg/m2) persons (173 women and 55 men)										
132729	Y	body mass; leptin	METABOLIC	MET	Obesity|Body Weight	2	2p23.3	POMC	25237225	25245063		Chen, Y.  et al. 2005	15812563				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			European journal of human genetics. 2005 Jun;13(6):772-80	Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population.		176830	18972	2	2005	Associations of BMI, weight and total fat with SNPs in regions flanking the POMC gene in this powerful study suggest that regulation of POMC expression may be influential in determining body weight.	Cohort 2,758 normal Caucasian female subjects (mean age 47.4+/-12.5 years), from the St Thomas' UK Adult Twin Registry 										
132724	Y	obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Sutton, B. S.  et al. 2005	16222047				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			Obesity research. 2005 Sep;13(9):1491-8	Association of proopiomelanocortin gene polymorphisms with obesity in the IRAS family study.		176830	13174	2	2005	These results support the hypothesis that POMC contributes genetically to the development of obesity.											
132725	N	obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Delplanque, J.  et al. 2000	11151766				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	French	France	CDC GDPinfo	5443	Hs.1897			Diabetologia. 2000 Dec;43(12):1554-7	Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families.		176830	18967	2	2000	Our results indicate that mutations in the POMC gene do not contribute to the variance of obesity associated phenotypes, at least in French Caucasians. Given the replicated evidence of linkage between leptin values and the chromosome 2p21-23 region in different populations, it is likely that functional variant(s) in the POMC regulating sequences or in an unknown gene in this region explains this linkage.	Case:379 unrelated obese patients										
132726	Y	obesity	METABOLIC	MET	Obesity|Translocation, Genetic	2	2p23.3	POMC	25237225	25245063		Miraglia del Giudice, E.  et al. 2001	11244459				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	Italian	Italy	CDC GDPinfo	5443	Hs.1897			International journal of obesity and related metabolic disorders. 2001 Jan;25(1):61-7	Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report ofthree new mutations.		176830	18968	2	2001	 Mutations in codons 7 and 9 of the signal peptide may alter the translocation of the pre-proopiomelanocortin into the endoplasmic reticulum and, therefore, can be implicated in obesity. Although further studies are required, the polymorphism between position 6997 and 6998 may represent one of the genetic variations that explain the linkage between obesity and POMC. International Journal of Obesity (2001) 25, 61-67	Cohort 87 unrelated Italian obese children and adolescents Italy 										
132721	Y	obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Santoro, N.  et al. 2004	15472174				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			The Journal of clinical endocrinology and metabolism. 2004 Oct;89(10):4846-9	An insertional polymorphism of the proopiomelanocortin gene is associated with fasting insulin levels in childhood obesity.		176830	13171	2	2004	These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects and suggest that this common POMC variant may be involved in the natural history of polygenic obesity in late adolescence and adulthood, contributing to the link between type 2 diabetes and obesity.	Control:300 lean controls of Mediterranean descent;Case:380 (185 girls) Italian obese children and adolescents										
132722	Y	bone density	METABOLIC	MET	Disease Susceptibility|Body Weight	2	2p23.3	POMC	25237225	25245063		Sudo, Y.  et al. 2005	15864412			promoter	Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			Journal of human genetics. 2005 ;50(5):235-40	Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women.		176830	13172	2	2005	We propose that POMC is among the likely susceptibility genes for osteoporosis and may also be involved in dyslipidemia.	Cohort 384 adult Japanese women 										
132723		body fat	METABOLIC	MET		2	2p23.3	POMC	25237225	25245063		Baker, M.  et al. 2005	16046320				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDPinfo	5443	Hs.1897			Diabetes. 2005 Aug;54(8):2492-6	Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution:a family study.		176830	13173	2	2005												
132718	Y	Normal variation in leptin levels	NORMALVARIATION	NV		2	2p23.3	POMC	25237225	25245063		Hixson JE et al. 1999	10487685				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			KGB	5443	Hs.1897			The Journal of clinical endocrinology and metabolism. 1999 Sep;84(9):3187-91	Normal variation in leptin levels in associated with polymorphisms in the proopiomelanocortin gene POMC.		176830	5021	1	1999	We conclude that  variation in POMC is associated with normal variation in serum leptin levels, providing further evidence that POMC may be the leptin QTL previously identified in Mexican American families.											
132719	Y	serum leptin levels	OTHER	OTH	Obesity|Thinness	2	2p23.3	POMC	25237225	25245063		Suviolahti E 2003	14513068				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			KGB	5443	Hs.1897	lean but not in obese individuals		International journal of obesity and related metabolic disorders. 2003 Oct;27(10):1204-11	Pro-opiomelanocortin gene is associated with serum leptin levels in lean but not in obese individuals.		176830	5022	1	2003	 Monogenic forms of obesity due to mutations in POMC and MC4R are rare in Swedish obese patients. Polymorphisms in POMC are associated with variation in serum leptin levels within the normal range in healthy lean but not in obese individuals.											
132720	Y	insulin; lipids; obesity; glucose; leptin; cortisol	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Rosmond, R.  et al. 2002	11979399				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	Swedish	Sweden	CDC GDPinfo	5443	Hs.1897			Metabolism:  clinical and experimental. 2002 May;51(5):642-4	Polymorphisms in exon 3 of the proopiomelanocortin gene in relation to serum leptin, salivary cortisol, and obesity in Swedish men		176830	13170	2	2002	In conclusion, a microsatellite polymorphism in exon 3 of POMC is associated with elevated serum leptin levels. This association might reflect variations in melanocortin expression and/or activity, because exon 3 contains, among others, the coding sequences for melanocortins.	Cohort 284 unrelated Swedish men born in 1944. 										
132715		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	18	18q21.1	POLI	50049922	50075092		Sakiyama, T.  et al. 2004	15609317				Polymerase (DNA directed) iota	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007195.1			CDC GDPinfo	11201	Hs.631675			International journal of cancer. Journal international du cancer. 2005 May;114(5):730-7	Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk		605252	23232	2	2004	The present results suggest that these 4 SNPs function as genetic factors underlying lung cancer susceptibility by modulating activities to maintain the genome integrity of each individual.	Control:685:controls;Case:752/250 adenocarcinoma cases (n=752) and squamous cell carcinoma cases (n=250)										
132716		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	18	18q21.1	POLI	50049922	50075092		Zienolddiny, S.  et al. 2005	16195237				Polymerase (DNA directed) iota	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007195.1			CDC GDPinfo	11201	Hs.631675			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		605252	28450	2	2005												
132717	N	obesity	METABOLIC	MET	Obesity	2	2p23.3	POMC	25237225	25245063		Delplanque J et al. 2000	11151766				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	caucasian	France	KGB	5443	Hs.1897			Diabetologia. 2000 Dec;43(12):1554-7	Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families.		176830	5020	1	2000	Our results indicate that mutations in the POMC gene do not contribute to the variance of obesity associated phenotypes, at least in French Caucasians. Given the replicated evidence of linkage between leptin values and the chromosome 2p21-23 region in different populations, it is likely that functional variant(s) in the POMC regulating sequences or in an unknown gene in this region explains this linkage.	Case:379 unrelated obese patients										
132712	N	neuropathy; lactic acidosis	NEUROLOGICAL	NEUR	HIV Infections|Peripheral Nervous System Diseases|Acidosis, Lactic	15	15q25	POLG	87660552	87679030		Chen, X.  et al. 2002	12036482				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDPinfo	5428	Hs.592016			AIDS research and human retroviruses. 2002 May;18(8):531-4	Lack of correlation between length variation in the DNA polymerase gamma gene CAG repeat and lactic acidosis or neuropathy during antiretroviral treatment.		174763	18964	2	2002	No correlation was found between numbers of CAG repeats and any of the symptoms.	Cohort 59 drug-treated HIV-infected patients 	antiretroviral									
132713	Y	infertility, male	REPRODUCTION	REP	Infertility, Male	15	15q25	POLG	87660552	87679030		Aknin-Seifer, I. E.  et al. 2005	15650046				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1	French		CDC GDPinfo	5428	Hs.592016			Human reproduction (Oxford, England). 2005 Mar;20(3):736-40	Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study		174763	18965	2	2005	 Under our conditions, our study does not confirm any relationship between the polymorphic CAG repeat in the POLG gene and male infertility.	Case:433 infertile males;Control:91 fertile, normozoospermic and healthy males										
132714	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	15	15q25	POLG	87660552	87679030		Taanman, J. W.  et al. 2005	15694274				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDPinfo	5428	Hs.592016			Neuroscience letters. 2005 Mar;376(1):56-9	Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.		174763	18966	2	2005	Our results rule out POLG CAG repeat instability as a common pathogenic mechanism in idiopathic Parkinson's disease.	Case:22 idiopathic Parkinson's disease patients;Control:31 control subjects										
132709	Y	infertility, male	REPRODUCTION	REP	Infertility, Male	15	15q25	POLG	87660552	87679030		Jensen, M.  et al. 2004	14688158				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDPinfo	5428	Hs.592016			Human reproduction (Oxford, England). 2004 Jan;19(1):65-70	Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.		174763	13168	2	2004	 The POLG gene polymorphism should be considered as a possible contributing factor in patients with unexplained subfertility and normal spermiograms. The oocyte penetration ability of sperm may be partially impaired in the not equal to 10/not equal to 10 patients but most of them can be successfully treated with ICSI.	Case:429 patients with infertility/subfertility;Control:869 controls (495 men from the general population with unknown fertility and 374 recent fathers)										
132710	N	infertility, male, oligozoospermia, azoospermia	REPRODUCTION	REP	Infertility, Male	15	15q25	POLG	87660552	87679030		Krausz, C.  et al. 2004	15356024				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDPinfo	5428	Hs.592016			The Journal of clinical endocrinology and metabolism. 2004 Sep;89(9):4292-7	The Clinical Significance of the POLG Gene Polymorphism in Male Infertility		174763	13169	2	2004	Our study failed to confirm any influence of the POLG gene polymorphism on the efficiency of the spermatogenesis. More importantly, considering that the homozygous mutant genotype has been found in normospermic fertile men, the analysis of the CAG repeat tract of the POLG gene does not appear to have any clinical diagnostic value.	Case Italian infertile males;Control normospermic men										
132711	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	15	15q25	POLG	87660552	87679030		Rovio, A. T.  et al. 2001	11687794				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDPinfo	5428	Hs.592016			Nature genetics. 2001 Nov;29(3):261-2	Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.		174763	18963	2	2001	Our findings indicate that variant POLG alleles are somehow deleterious to sperm function or differentiation but have no obvious, phenotypic effects in other tissues.	Control:522 healty controls;Control:98 fertile men;Case:99 infertile men										
132706		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	8	8p11.2	POLB	42315186	42348470		Zienolddiny, S.  et al. 2005	16195237				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1			CDC GDPinfo	5423	Hs.521563			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		174760	28420	2	2005												
132707		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.3	POLD1	55579407	55613082		Sigurdson, A. J.  et al. 2004	15113441				Polymerase (DNA directed), delta 1, catalytic subunit 125kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002691.1			CDC GDPinfo	5424	Hs.279413			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		174761	26502	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
132708		progressive external ophthalmoplegia	OTHER	OTH	Ophthalmoplegia|Disease Progression	15	15q25	POLG	87660552	87679030		Filosto M 2003	12975295				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			KGB	5428	Hs.592016			Archives of neurology. 2003 Sep;60(9):1279-84	Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.		174763	5019	1	2003	 Our results demonstrate that POLG mutations account for a substantial proportion of patients (13%) with PEO and multiple mitochondrial DNA deletions and cause both clinically and genetically heterogeneous disorders.											
132702	N	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21	PNOC	28230567	28256787		Blaveri E et al. 2001	11436130				Prepronociceptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006228.3			KGB	5368	Hs.88218			European journal of human genetics. 2001 Jun;9(6):469-72	Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC) neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1).		601459	5013	1	2001	No differences were found in allele frequencies between the patient and control groups. DNA variations or mutations at or near the three genes under study are unlikely to increase susceptibility to schizophrenia in our population sample.	Case:130 schizophrenic patients;Control:316 screened normal controls										
132703	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21	PNOC	28230567	28256787		Imai, K.  et al. 2001	11501941				Prepronociceptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006228.3		Japan	CDC GDPinfo	5368	Hs.88218			Journal of human genetics. 2001 ;46(8):442-7	Association analysis of polymorphisms in the prepronociceptin gene and schizophrenia.		601459	13166	2	2001	The results suggest that ppNoc gene polymorphisms have no association with schizophrenia.	Control:100 healthy controls;Case:87 unrelated schizophrenic patients										
132704	N	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21	PNOC	28230567	28256787		Blaveri, E.  et al. 2001	11436130				Prepronociceptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006228.3			CDC GDPinfo	5368	Hs.88218			European journal of human genetics. 2001 Jun;9(6):469-72	Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC),neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1).		601459	18961	2	2001	No differences were found in allele frequencies between the patient and control groups. DNA variations or mutations at or near the three genes under study are unlikely to increase susceptibility to schizophrenia in our population sample.	Case:130 schizophrenic patients;Control:316 screened normal controls										
132698	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21-q22	PNMT	35078032	35080254		Mann, M. B.  et al. 2001	11378842				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDPinfo	5409	Hs.1892			American journal of medical genetics. 2001 May;105(4):312-6	Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease.		171190	18958	2	2001	These data suggest that genetic variation in the promoter of the PNMT gene is associated with increased susceptibility to the sporadic form of EOAD. Copyright 2001 Wiley-Liss, Inc.	Case:131 necropsy confirmed Alzheimer's disease cases;Control:947 adult nondemented controls										
132699	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q21-q22	PNMT	35078032	35080254		Mann, M. B.  et al. 2002	11958827				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDPinfo	5409	Hs.1892			Journal of neuroimmunology. 2002 Mar;124(2-Jan):101-5	Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis.		171190	18959	2	2002	The data suggest that these promoter polymorphisms of the PNMT gene, both independently and cumulatively, show association with MS.	Case:108 patients with multiple sclerosis;Control:774 ethnically and age-matched control subjects										
132701	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21	PNOC	28230567	28256787		Imai K et al. 2001	11501941				Prepronociceptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006228.3		Japan	KGB	5368	Hs.88218			Journal of human genetics. 2001 ;46(8):442-7	Association analysis of polymorphisms in the prepronociceptin gene and schizophrenia.		601459	5012	1	2001	The results suggest that ppNoc gene polymorphisms have no association with schizophrenia.	Control:100 healthy controls;Case:87 unrelated schizophrenic patients										
132695	Y	lipoproteins	METABOLIC	MET		10	10q26.1	PNLIP	118295417	118317357		Hegele, R. A.  et al. 2001	11393534				Pancreatic lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000936.2			CDC GDPinfo	5406	Hs.501135			Journal of human genetics. 2001 ;46(6):320-4	Polymorphisms in PNLIP, encoding pancreatic lipase, and associations with metabolic traits.		246600	13164	2	2001	we report three new SNPs for the PNLIP, which may serve as markers for association analyses and for pharmacogenetic studies of pancreatic lipase inhibitors.	Cohort 50 normolipidemic Caucasians 										
132696	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q21-q22	PNMT	35078032	35080254		Mann MB et al. 2002	11958827				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			KGB	5409	Hs.1892			Journal of neuroimmunology. 2002 Mar;124(2-Jan):101-5	Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis.		171190	5018	1	2002	The data suggest that these promoter polymorphisms of the PNMT gene, both independently and cumulatively, show association with MS.	Case:108 patients with multiple sclerosis;Control:774 ethnically and age-matched control subjects										
132697	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q21-q22	PNMT	35078032	35080254		Cui, J.  et al. 2003	14553966			promoter	Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2	African Americans		CDC GDPinfo	5409	Hs.1892			American journal of hypertension. 2003 Oct;16(10):859-63	Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites		171190	13165	2	2003	 These results suggest that genetic variants of PNMT may play a role in the development of essential hypertension.	Case:117/99/91 hypertensives (African American, n=117, Greek Caucasian, n=99, and American Caucasian, n=91);Control:96/90/80 normotensives (African American, n=96, Greek Caucasian, n=90, and American Caucasian, n=80)										
132691		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Lee, Y. C.  et al. 2004	15050444				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2	Taiwanese	Taiwan	CDC GDPinfo	5376	Hs.372031			Journal of the neurological sciences. 2004 Apr;219(2-Jan):95-100	Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1		601097	25425	2	2004	 This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.	Cohort Taiwanese disease patients who do not have PMP22 duplication 										
132692		neuropathy, Charcot-Marie-Tooth	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Takashima, H.  et al. 2001	11545686				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			CDC GDPinfo	5376	Hs.372031			Genetics in medicine. 2001 Sep-Oct;3(5):335-42	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.		601097	26500	2	2001	 DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases.	Cohort 168 patients with Charcot-Marie-Tooth neuropathy 										
132693		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Boerkoel, C. F.  et al. 2002	11835375				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			CDC GDPinfo	5376	Hs.372031			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		601097	27982	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
132687	Y	Dejerine-Sottas neuropathy	OTHER	OTH	Hereditary Motor and Sensory Neuropathies	17	17p12-p11.2	PMP22	15073820	15109369		Valentijn LJ et al. 1995	7728152				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			KGB	5376	Hs.372031			Human mutation. 1995 ;5(1):76-80	Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation.		601097	5014	1	1995												
132688	Y	Charcot-Marie-Tooth disease type 1A	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Roa BB et al. 1993	8510709				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			KGB	5376	Hs.372031			The New England journal of medicine. 1993 Jul;329(2):96-101	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.		601097	5015	1	1993	The PMP22 gene has a causative role in CMT type 1. Either a point mutation in PMP22 or a duplication of the region including the PMP22 gene can result in the disease phenotype.											
132689	Y	Charcot-Marie-Tooth disease type 1A	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Marrosu MG et al. 1997	9040744			coding sequence	peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2	Sardinian		KGB	5376	Hs.372031			Neurology. 1997 Feb;48(2):489-93	A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.		601097	5016	1	1997		Case:16; Control:80										
132690	Y	Dejerine-Sottas neuropathy	OTHER	OTH	Hereditary Motor and Sensory Neuropathies	17	17p12-p11.2	PMP22	15073820	15109369		Bort S et al. 1998	9452053				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			KGB	5376	Hs.372031			Human mutation. 1998 ;Suppl 1:S95-8	Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.		601097	5017	1	1998												
132683	Y	connatal Pelizaeus-Merzbacher disease	OTHER	OTH	Diffuse Cerebral Sclerosis of Schilder	X	Xq22	PLP1	102918409	102934203		Yamamoto T et al. 1999	10425042				proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000533.3			KGB	5354	Hs.1787			Human mutation. 1999 Aug;14(2):182	A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.		300401 		5011	1	1999												
132684	Y	obesity	METABOLIC	MET	Obesity	20	20q12-q13.1	PLTP	43960803	43974193		Bosse, Y.  et al. 2005	15953936				Phospholipid transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006227.2			CDC GDPinfo	5360	Hs.439312			International journal of obesity (2005). 2005 Nov;29(11):1338-45	Haplotypes in the phospholipid transfer protein gene are associated with obesity-related phenotypes: the Qu????bec Family Study.		172425	18956	2	2005	 Intronic variants of the PLTP gene are significantly associated with obesity-related phenotypes. Considering the number and the relevance of candidate genes surrounding the PLTP locus and the absence of missense polymorphisms in the coding region, the associations could be mediated by a second gene allele in linkage disequilibrium with the marker locus.											
132686		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	15	15q22	PML	72074066	72127208		Zhu, Y. L.  et al. 2005	15968309				Promyelocytic leukemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033238.2			CDC GDPinfo	5371	Hs.526464			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		102578	26499	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
132679	N	hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	6	6q22.1	PLN	118976164	118988280			16382369				Phospholamban	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002667.2	Greek		CDC GDPinfo	5350	Hs.170839			Biochemical genetics. 2005 Dec;43(12-Nov):637-42	Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a northern greek population		172405	18955	2	2005												
132680	Y	longer forms of a repetitive sequence	OTHER	OTH	Ehlers-danlos Syndrome	1	1p36.3-p36.2	PLOD1	11917332	11958181		Heikkinen J et al. 1997	8981946				Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000302.2			KGB	5351	Hs.75093			American journal of human genetics. 1997 Jan;60(1):48-56	Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.		153454	5009	1	1997												
132681	Y	bone density	METABOLIC	MET		1	1p36.3-p36.2	PLOD1	11917332	11958181		Spotila, L. D.  et al. 2003	14565595				Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000302.2			CDC GDPinfo	5351	Hs.75093			Calcified tissue international. 2003 Aug;73(2):140-6	Association Analysis of Bone Mineral Density and Single Nucleotide Polymorphisms in Two Candidate Genes on Chromosome 1p36		153454	14410	2	2003	These findings strengthen the potential importance of chromosome 1p36.2-1p36.3 in contributing to BMD variation, and are consistent with genetic variation in either PLOD1, TNFRSF1B or nearby genes playing a role in the phenotype.	Cohort 104 patients of European descent 										
132682	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	X	Xq22	PLP1	102918409	102934203	n	Price SE 1997	9460711				Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000533.3			TJB	5354	Hs.1787			Neuropathology and applied neurobiology. 1997 Dec;23(6):457-67			300401	5010	1	1997		Case:71; Control:71										
132675		obesity	METABOLIC	MET	Obesity	15	15q26	PLIN	88008602	88023595		Qi, L.  et al. 2005	15770500				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3		Malaysia|Singapore|India|China	CDC GDPinfo	5346	Hs.103253			Journal of molecular medicine (Berlin, Germany). 2005 Jun;83(6):448-56	Intragenic linkage disequilibrium structure of the human perilipin gene (PLIN) and haplotype association with increased obesity risk in a multiethnic Asian population.		170290	18951	2	2005												
132676	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	6	6q22.1	PLN	118976164	118988280		Minamisawa, S.  et al. 2003	12705874			promoter	Phospholamban	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002667.2			CDC GDPinfo	5350	Hs.170839			Biochemical and biophysical research communications. 2003 Apr;304(1):4-Jan	Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.		172405	18952	2	2003	We suspect that the mutation plays an important role in the development of hypertrophic cardiomyopathy.	Control:296 control subjects;Case:87/10/2 hypertrophic (n=87), dilated (n=10), and restricted (n=2) cardiomyopathic patients		ATP2A2	SERCA2							
132677	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	6	6q22.1	PLN	118976164	118988280		Zhao, C. X.  et al. 2004	15640069				Phospholamban	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002667.2	Chinese		CDC GDPinfo	5350	Hs.170839			Yi chuan. 2004 Sep;26(5):599-602	[Association between Mutation of Phospholamban Gene and Dilated Cardiomyopathy.]		172405	18953	2	2004	Most Chinese DCM patients may not be related with mutation of PLB gene.	Cohort 60 patients with idiotic dilated cardiomyopathy 										
132678	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	6	6q22.1	PLN	118976164	118988280		Chen, X. Y.  et al. 2005	16235537				Phospholamban	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002667.2			CDC GDPinfo	5350	Hs.170839			Sichuan da xue xue bao Yi xue ban. 2005 Sep;36(5):683-5	[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area]		172405	18954	2	2005	 No PLN gene mutation was found in patients with DCM in Chengdu. This result indicated that PLN gene mutation may not be a common cause for DCM in the Chinese population in Chengdu.											
132671	Y	cholesterol; cholesterol, HDL; cholesterol, LDL; hypertension; lipoproteins; obesity	METABOLIC	MET	Hypertension|Obesity	15	15q26	PLIN	88008602	88023595		Yan, W.  et al. 2004	15601966				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3	Chinese	China	CDC GDPinfo	5346	Hs.103253			Obesity research. 2004 Nov;12(11):1733-7	Polymorphisms in PLIN and hypertension combined with obesity and lipid profiles in Han Chinese.		170290	13162	2	2004	Polymorphism 1243 in the PLIN gene did not seem to be associated with HO but with TC levels in Chinese. The PLIN gene may be involved in human lipid metabolism.	Case:503 Chinese Han cases with hypertension and obesity;Control:511 unrelated controls										
132672		weight loss	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Loss	15	15q26	PLIN	88008602	88023595		Corella, D.  et al. 2005	15985482	11482G>A			Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3			CDC GDPinfo	5346	Hs.103253			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5121-6	Obese subjects carrying the 11482G>A polymorphism at the perilipin locus are resistant to weight loss after dietary energy restriction.		170290	13163	2	2005	 PLIN11482A carriers were resistant to weight loss, suggesting that this polymorphism may predict outcome of BW reduction strategies based on low-energy diets.		diet									
132674	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	15	15q26	PLIN	88008602	88023595		Qi, L.  et al. 2004	15601970				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3			CDC GDPinfo	5346	Hs.103253			Obesity research. 2004 Nov;12(11):1758-65	Gender-specific association of a perilipin gene haplotype with obesity risk in a white population.		170290	18950	2	2004	Our data support the hypothesis that the PLIN locus may be a significant genetic determinant for obesity risk in whites and that women are more sensitive to the genetic effects of perilipin than men.	Cohort 734 white subjects (373 men and 361 women) 										
132668	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	PLD2	4657391	4673694		Yamada, Y.  et al. 2003	12601529				Phospholipase D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002663.2	Japanese	Japan	CDC GDPinfo	5338	Hs.104519			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):126-31	Association of a polymorphism of the phospholipase D2 gene with the prevalence of colorectal cancer.		602384	13161	2	2003	These results suggest that the phospholipase D(2) gene is a susceptibility locus for colorectal cancer in Japanese individuals, although a functional effect of the 1814C-->T (Thr577Ile) polymorphism was not detected.	Case individuals with colorectal cancer;Control:controls										
132669		macular degeneration, age-related	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q26.13	PLEKHA1	124124209	124181856		Rivera, A.  et al. 2005	16174643				Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021622.3			CDC GDPinfo	59338	Hs.643512			Human molecular genetics. 2005 Nov;14(21):3227-36	Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.		607772	23230	2	2005												
132670		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6q26	PLG	161043272	161094328		Song, K. S.  et al. 2003	12692411				Plasminogen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000301.1	Korean	Korea	CDC GDPinfo	5340	Hs.143436			Journal of Korean medical science. 2003 Apr;18(2):167-70	Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.		173350	18948	2	2003	In conclusion, dysplasminogenemia is not rare in deep vein thrombosis, which suggests a risk factor for the thrombosis in Korean population.	Cohort Korean patients with deep vein thrombosis 										
132664		dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	15	15q15	PLCB2	38367389	38387466		Morris, D. W.  et al. 2004	15274049				Phospholipase C, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004573.2			CDC GDPinfo	5330	Hs.355888			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):97-103	Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability.		604114	23229	2	2004	We conclude that  neither gene accounts for the association signal we previously observed. As these are the only clear cut functional candidate genes in the region, identification of the putative susceptibility locus for RD on 15q will require more methodical non-hypothesis driven positional cloning approaches.	Case:164 dyslexia cases South Wales and England;Control:174:controls										
132665		bipolar disorder	PSYCH	PSY	Bipolar Disorder	20	20q12-q13.1	PLCG1	39199574	39237771		Ftouhi-Paquin, N.  et al. 2001	11353454				Phospholipase C, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002660.2			CDC GDPinfo	5335	Hs.268177			American journal of medical genetics. 2001 Apr;105(3):301-5	Identification of three polymorphisms in the translated region of PLC-gamma1 and their investigation in lithium responsive bipolar disorder.		172420	13160	2	2001	These results suggest that our previous findings were not the result of linkage disequilibrium with these variants.	Case:133 bipolar patients with an excellent response to lithium prophylaxix;Control:99 healthy controls	lithium									
132666	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	20	20q12-q13.1	PLCG1	39199574	39237771		Lovlie, R.  et al. 2001	11409699				Phospholipase C, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002660.2		Norway	CDC GDPinfo	5335	Hs.268177			Psychiatric genetics. 2001 Mar;11(1):41-3	The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examinationof an intronic dinucleotide repeat polymorphism.		172420	18946	2	2001	When analyzed according to presence or absence of different dinucleotide alleles, a PLCG1-8 repeat was more frequent among lithium responders vs controls. In line with Turecki et al., we also noticed a moderately over-representation of the PLCG1-5 repeat among the bipolar patients as compared to the controls.	Cohort Norwegian lithium-treated bipolar patients sub-classified as lithium responders, non-responders, or partial responders/unclassified. ;Control:50 unrelated healthy controls, Norwegians of Caucasian:ancestry;Case:61 bipolar patients, Norwegians of Caucasian ancestry	lithium									
132661		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	8	8p12	PLAT	42151909	42184351		Austin, H.  et al. 2002	12468767				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2		United States	CDC GDPinfo	5327	Hs.491582			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		173370	27597	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
132662		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	8	8p12	PLAT	42151909	42184351			16356191				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		173370	27819	2	2005												
132663		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351			11963567				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		173370	27820	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
132658		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	8	8p12	PLAT	42151909	42184351		Rudack, C.  et al. 2004	15109703				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		173370	27594	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
132659		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Falchi, A.  et al. 2005	16248996				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Corsica	France	CDC GDPinfo	5327	Hs.491582			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		173370	27595	2	2005												
132660		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	8	8p12	PLAT	42151909	42184351		Spiridonova, M. G.  et al. 2001	11507973				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2		Russia	CDC GDPinfo	5327	Hs.491582			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		173370	27596	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
132655	N	psychoses; methamphetamine dependence	PSYCH	PSY	Amphetamine-Related Disorders	8	8p12	PLAT	42151909	42184351		Iwata, N.  et al. 2004	15542697				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Japanese		CDC GDPinfo	5327	Hs.491582			Annals of the New York Academy of Sciences. 2004 Oct;1025:34-8	No association is found between the candidate genes of t-PA/plasminogen system and Japanese methamphetamine-related disorder: a collaborativestudy by the Japanese Genetics Initiative for Drug Abuse.		173370	18942	2	2004	This study suggests that t-PA/plasminogen system is unlikely to be a major contributor to the substance abuse liability and/or the development of MAP psychosis.	Case:185 methamphetamine abusers;Control:288 healthy controls										
132656		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Coffey, C. S.  et al. 2004	15119966				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			BMC bioinformatics [electronic resource]. 2004 Apr;5:49	An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of modelvalidation.		173370	23228	2	2004	 The significant interaction initially observed does not validate and may represent a type I error. As data-driven analytic methods continue to be developed and used to examine complex genetic interactions, it will become increasingly important to stress model validation in order to ensure that significant effects represent true relationships rather than chance findings.	Case:343 myocardial infarction cases from the Physicians Health Study;Control:343 matched controls										
132657		inflammatory bowel disease; colorectal cancer; ACE activity; coronary atherosclerosis	CANCER	CAN		8	8p12	PLAT	42151909	42184351		Khitrinskaia Iiu  et al. 2001	11771311				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Genetika. 2001 Nov;37(11):1553-8	[Analysis of Alu-polymorphism in Buryat populations]		173370	26498	2	2001	Analysis of autosomal Alu insertions suggests the uniformity of the Buryat gene pool											
132652		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	8	8p12	PLAT	42151909	42184351		Oguzulgen, I. K.  et al. 2005	15976969				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2		Turkey	CDC GDPinfo	5327	Hs.491582			Journal of thrombosis and thrombolysis. 2005 Feb;19(1):61-3	Is tissue-plasminogen activator gene polymorphism a risk factor for venous thromboembolism in every population?		173370	13147	2	2005	 In conclusion there was no association between t-PA genotype and VTE in this group of Turkish population. It was also found that genotype frequencies for t-PA in both VTE and control subjects seems different from those reported from western part of the world. ABBREVIATED ABSTRACT: The aim of this study is to investigate the role of t-PA gene polymorphism in Turkish VTE patients. We investigated 93 VTE patients and 146 controls without VTE. Cases and controls did not differ with respect to the different t-PA genotypes. The prevalence of I allele was 44.1%, 44.5% in cases and controls respectively (OR = 0.95, 95% CI: 0.78-1.24, p > 0.05). Different t-PA genotypes had no effect on recurrent disease. No gender difference was observed with respect to the different t-PA genotypes. There was no significant difference for genotype frequency between PTE patients with documented risk factors and unprovoked cases. In conclusion there was no association between t-PA genotype and VTE in this group of Turkish population. It was also found that genotype frequencies for t-PA in both VTE and control subjects seems different from those reported from western part of the world.											
132653		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Myocardial Infarction|Thrombosis	8	8p12	PLAT	42151909	42184351		Jood, K.  et al. 2005	16179568				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Stroke; a journal of cerebral circulation. 2005 Oct;36(10):2077-81	Fibrinolytic gene polymorphism and ischemic stroke.		173370	13148	2	2005	 Neither the tPA -7351C>T nor the PAI-1 to 675 4G>5G polymorphism showed significant association with ischemic stroke. For the tPA CC/PAI-1 4G4G genotype combination, a protective effect was observed. Collectively, these results are consistent with a more complex role for tPA and PAI-1 in the brain as compared with the heart.											
132654	Y	tissue-type plasminogen activator levels	UNKNOWN	UNK		8	8p12	PLAT	42151909	42184351		Ladenvall, P.  et al. 2003	12891381				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			European journal of human genetics. 2003 Aug;11(8):603-10	Genetic variation at the human tissue-type plasminogen activator (tPA) locus: haplotypes andanalysis of association to plasma levels of tPA.		173370	18940	2	2003	These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Cohort 240 Swedish individuals without cardiovascular disease 										
132649	Y	gastric ulcer	OTHER	OTH	Peptic Ulcer Hemorrhage|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease|Recurrence	8	8p12	PLAT	42151909	42184351		Kim, H. S.  et al. 2002	12589088				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Journal of Korean medical science. 2003 Feb;18(1):58-64	Tissue Plasminogen Activator and Plasminogen Activator Inhibitor Type 1 Gene Polymorphism in Patients with Gastric Ulcer Complicated with Bleeding		173370	13143	2	2002	Our data suggest that t-PA gene polymorphism is associated with duodenal ulcers, and that the PAI-1 gene may be a risk factor leading to recurrent bleeding after initial hemostasis.	Control:100:controls;Case:84 patients with peptic ulcers Jan 1998 - Apr 2000										
132650		Tissue type plasminogen activator-regulated; secretion	UNKNOWN	UNK	Venous Thrombosis	8	8p12	PLAT	42151909	42184351		Sartori, M. T.  et al. 2003	12643326			intron	Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Clinical and applied thrombosis/hemostasis. 2003 Jan;9(1):63-9	Influence of the Alu-repeat I/D polymorphism in t-PA gene intron 8 on the stimulated t-PA release after venous occlusion		173370	13144	2	2003	In conclusion, these data suggest a possible genetic modulation of t-PA-regulated secretion.	Control:50 healthy controls;Case:82 patients showing an impaired fibrinolytic capacity associated with different arterial disease or with previous venous thrombosis										
132651		stroke, lacunar	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Brain Infarction|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Jannes, J.  et al. 2004	15031453	( -7,351C/T )			Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Stroke; a journal of cerebral circulation. 2004 May;35(5):1090-4	Tissue Plasminogen Activator -7351C/T Enhancer Polymorphism Is a Risk Factor for Lacunar Stroke		173370	13145	2	2004	 The TPA -7351C/T polymorphism is an independent risk factor for lacunar stroke. The findings suggest that impaired fibrinolysis may play a role in the pathogenesis of lacunar stroke.	Case:182 cases of ischemic stroke;Control:301 community controls										
132646		thromboembolism, venous	CARDIOVASCULAR	CARD		8	8p12	PLAT	42151909	42184351		Nakazawa, I.  et al. 2001	11450845				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Journal of human genetics. 2001 ;46(7):367-71	Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA) gene.		173370	13138	2	2001	Our results help to explain the lack of agreement among results of various disease-association studies in which a contribution of the human t-PA gene has been suspected but not always confirmed.	Cohort 50 normal Japanese volunteers Japan 										
132647	Y	myocardial infarction	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Hypertension|Obesity|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Ladenvall, P.  et al. 2002	11848437	( -7,351C/T )			Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2		Sweden	CDC GDPinfo	5327	Hs.491582			Thrombosis and haemostasis. 2002 Jan;87(1):105-9	Tissue-type plasminogen activator -7,351C/T enhancer polymorphism is associated with a first myocardial infarction.		173370	13140	2	2002	These findings suggest that genetic markers of local tPA release and circulating steady-state tPA levels carry independent prognostic information.	Control:120 controls not specified in abstract;Case:61 myocardial infarction cases northern Sweden										
132648		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Wang, B.  et al. 2002	12484521				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Chinese		CDC GDPinfo	5327	Hs.491582			Hypertension research. 2002 Nov;25(6):949-53	Alu-repeat polymorphism in the gene coding for tissue-type plasminogen activator and the risk of hypertension in a Chinese Han population.		173370	13142	2	2002	Thus, in this case control study, neither the presence of the insertion allele of the Alu-repeat polymorphism of the t-PA nor the level of t-PA antigen were associated with the risk of essential hypertension.	Control:102 normotensive controls, sex- and age-matched with:hypertensives;Case:126 Chinese hypertensive subjects:China										
132643		Stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Brain Infarction|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Jannes J 2004	15031453	-7351C/T enhancer			Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			KGB	5327	Hs.491582			Stroke; a journal of cerebral circulation. 2004 May;35(5):1090-4	T plasminogen activator -7351C/T enhancer polymorphism is a risk factor for lacunar stroke.		173370	5004	1	2004	 The TPA -7351C/T polymorphism is an independent risk factor for lacunar stroke. The findings suggest that impaired fibrinolysis may play a role in the pathogenesis of lacunar stroke.	Case:182 cases of ischemic stroke;Control:301 community controls										
132644	Y	vascular t-PA release	OTHER	OTH		8	8p12	PLAT	42151909	42184351		Ladenvall P et al. 2000	10959683				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			KGB	5327	Hs.491582			Thrombosis and haemostasis. 2000 Aug;84(2):150-5	Identification of eight novel single-nucleotide polymorphisms at human tissue-type plasminogen activator (t-PA) locus: association with vascular t-PA release in vivo.		173370	5005	1	2000	Electrophoretic mobility shift assay (EMSA) revealed a reduced binding affinity of Sp1 to the T allele, which is the allele associated with a low t-PA release rate.											
132645	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Intracranial Embolism and Thrombosis|Arteriosclerosis	8	8p12	PLAT	42151909	42184351		Bang, C. O.  et al. 2001	11385207	4G/5G			Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDPinfo	5327	Hs.491582			Cerebrovascular diseases (Basel, Switzerland). 2001 ;11(4):294-9	4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and insertion/deletion polymorphism of the tissue-type plasminogen activator gene in atherothrombotic stroke.		173370	13137	2	2001	 Our results suggest that the 4G/4G genotype of the PAI-1 gene is significantly associated with an increased risk of atherothrombotic stroke. This finding also supports that impaired fibrinolytic activity in atherothrombotic stroke is related to atherothrombosis per se, but not to hypertension, one of the most important risk factors of atherothrombotic stroke.	Control:100 consecutive subjects attending the hospital for multiphasic health check-ups, excluding those with hypertension, ischemic heart disease, transient ischemic attack, or prior stroke;Case:160 patients with atherothrombotic stroke (n = 60),:hypertension (n = 100)										
132640	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.2-p12	PLA2G7	46780236	46811055		Ninio, E.  et al. 2004	15115767		The V379 allele displays higher enzymatic activity 	coding sequence	Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	caucasians of German nationality /inhabitants of the Rhein-Mainz area.	Germany	CDC GDPinfo	7941	Hs.584823		A379V	Human molecular genetics. 2004 Jul;13(13):1341-51	Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease.		601690	19130	2	2004	The V379 allele may be protective against CAD	Case:1,314 coronary artery disease patients from a prospective:cohort;Control:485 healthy controls										
132641		angina	CARDIOVASCULAR	CARD	Angina Pectoris, Variant|Microvascular Angina|Coronary Vasospasm	6	6p21.2-p12	PLA2G7	46780236	46811055		Mashiba, J.  et al. 2005	16308493				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese		CDC GDPinfo	7941	Hs.584823			Circulation journal. 2005 Dec;69(12):1466-71	Vasospastic Angina and Microvascular Angina are Differentially Influenced by PON1 A632G Polymorphism in the Japanese.		601690	23227	2	2005	 There was a significant association between PON1 A632G polymorphism and MVA as well as VSA, but the impact of this on VSA and MVA is different in the Japanese.											
132642		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.2-p12	PLA2G7	46780236	46811055		Junqueira, R.  et al. 2004	15318030				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2			CDC GDPinfo	7941	Hs.584823			Psychiatric genetics. 2004 Sep;14(3):157-60	Allelic association analysis of phospholipase A2 genes with schizophrenia.		601690	26497	2	2004	In conclusion, our data suggested that iPLA2 may play a role as a susceptibility gene for schizophrenia in our sample; however, confirmatory studies in independent samples are needed.	Case:240:schizophrenics;Control:312 healthy controls										
132637		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	6	6p21.2-p12	PLA2G7	46780236	46811055		Nakamura, T.  et al. 2002	12068200				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2			CDC GDPinfo	7941	Hs.584823			Diseases of the colon and rectum. 2002 Mar;45(3):389-93	Relationship between the platelet activating factor acetylhydrolase gene and intractability of ulcerative colitis.		601690	18934	2	2002	 We conclude that steroid-nonresponsive ulcerative colitis patients have a high frequency of the platelet activating factor acetylhydrolase gene mutation. Therefore, genotyping of this gene may be a useful marker to predict responsiveness to steroid therapy.	Control:108 control subjects;Case:53 patients with ulcerative colitis										
132638	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.2-p12	PLA2G7	46780236	46811055		Abuzeid, A. M.  et al. 2003	12801611				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2		Europe	CDC GDPinfo	7941	Hs.584823			Atherosclerosis. 2003 Jun;168(2):283-8	Association between the Ala379Val variant of the lipoprotein associated phospholipase A2 and risk of myocardial infarction in the north and south of Europe.		601690	18935	2	2003	Since homozygosity for V379 occurs in only 5-6% of subjects, this genotype is not a major determinant of population genetic risk of CHD, but the association of this genotype with low levels of Lp-PLA(2), strongly support the pro-inflammatory causative, and not consequential, role of Lp-PLA(2) in CHD.	Case:527 post-myocardial infarct men north and south Europe;Control:566 age-matched controls										
132639	N	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypercholesterolemia	6	6p21.2-p12	PLA2G7	46780236	46811055		Campo, S.  et al. 2004	15364890				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2		Sicily	CDC GDPinfo	7941	Hs.584823			Clinical chemistry. 2004 Nov;50(11):2077-82	Platelet-activating factor acetylhydrolase is not associated with carotid intima-media thickness in hypercholesterolemic Sicilian individuals.		601690	18936	2	2004	 Our data provided no evidence that PAF-AH polymorphisms influence PAF-AH activity and atherosclerosis in hypercholesterolemic Sicilian patients.	Cohort 190 hypercholesterolemic Sicilian individuals Sicily, Italy 										
132634		carotid atherosclerosis	CARDIOVASCULAR	CARD		6	6p21.2-p12	PLA2G7	46780236	46811055		Balta, G.  et al. 2001	11248283				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Turkish		CDC GDPinfo	7941	Hs.584823			Thrombosis research. 2001 Feb;101(4):231-4	Evidence for the existence of the PAF acetylhydrolase mutation (Val279Phe) in non-Japanese populations: a preliminary study inTurkey, Azerbaijan, and Kyrgyzstan.		601690	18931	2	2001	Contrary to the previous notions, identification of the mutation in Turkey and Kyrgyzstan shows the existence of the mutation in non-Japanese populations as well.	Cohort 358 unrelated healthy subjects studied from Turkish population 										
132635	Y	aneurysm, abdominal aortic	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.2-p12	PLA2G7	46780236	46811055		Unno, N.  et al. 2002	11807372				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese	Japan	CDC GDPinfo	7941	Hs.584823			Annals of surgery. 2002 Feb;235(2):297-302	Association of a G994 -->T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with risk of abdominal aortic aneurysm in Japanese.		601690	18932	2	2002	 The genetic mutation of plasma PAF-AH gene appear to be an independent risk factor for AAA. Our findings need to be confirmed in a larger, prospective study including patients from different populations.	Control:106 controls matched for age and sex;Case:131 abdominal aortic aneurysm patients (median age 73.4 [range 50-84] years)										
132636		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.2-p12	PLA2G7	46780236	46811055		Ohtsuki, T.  et al. 2002	11850055				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2			CDC GDPinfo	7941	Hs.584823			Psychiatry research. 2002 Jan;109(1):93-6	Lack of evidence for associations between plasma platelet-activating factor acetylhydrolase deficiency and schizophrenia		601690	18933	2	2002	These observations indicate that functional differences in the plasma form of PAFAH do not play a substantial role in the etiology of schizophrenia. However, the present study leaves open the possibility that other isoforms are involved.	Control:188 Japanese controls;Case:191 Japanese patients with schizophrenia										
132631	Y	cardiomyopathy, nonfamilial hypertrophic	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	6	6p21.2-p12	PLA2G7	46780236	46811055		Yamada, Y.  et al. 2001	11501940	G994 --> T (Val279 --> Phe)			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese	Japan	CDC GDPinfo	7941	Hs.584823			Journal of human genetics. 2001 ;46(8):436-41	Association of a G994 --> T (Val279 --> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy.		601690	13135	2	2001	These results suggest that the G994 --> T (Val279 --> Phe) polymorphism in the plasma PAF-AH gene may exacerbate cardiac damage in Japanese individuals with nonfamilial HCM, although this polymorphism is unlikely to be a causative factor for this condition.	Case:142 subjects with nonfamilial hypertrophic:cardiomyopathy:Japan;Control:284 healthy controls										
132632	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Diabetes Mellitus, Type 2	6	6p21.2-p12	PLA2G7	46780236	46811055		Yamamoto, I.  et al. 2003	12590019				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese	Japan	CDC GDPinfo	7941	Hs.584823			Diabetes research and clinical practice. 2003 Mar;59(3):219-24	Association of plasma PAF acetylhydrolase gene polymorphism with IMT of carotid arteries in Japanese type 2 diabetic patients.		601690	13136	2	2003	The results of this study indicate that the missense mutation in plasma PAF acetylhydrolase is associated with development of atherosclerosis in the elderly.	Cohort 140 Japanese pateitns with type 2 diabetes without severe nephropathy 										
132633	Y	coronary artery spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm|Hypertension|Diabetes Complications	6	6p21.2-p12	PLA2G7	46780236	46811055		Ito, T.  et al. 2002	11810302	Q/R192			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2			CDC GDPinfo	7941	Hs.584823			Human genetics. 2002 Jan;110(1):89-94	Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm		601690	13189	2	2002	Thus, there is a significant association between the PON1-192R allele and coronary spasm; the PON1-192R allele may play an important role in the genesis of coronary spasm, probably by attenuating the suppression of oxidative stress.	Control:212 control subjects;Case:214 patients with coronary spasm										
132628		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	PLA2G6	36837447	36907781		Junqueira, R.  et al. 2004	15318030				Phospholipase A2, group VI (cytosolic, calcium-independent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003560.2			CDC GDPinfo	8398	Hs.170479			Psychiatric genetics. 2004 Sep;14(3):157-60	Allelic association analysis of phospholipase A2 genes with schizophrenia.		603604	25423	2	2004	In conclusion, our data suggested that iPLA2 may play a role as a susceptibility gene for schizophrenia in our sample; however, confirmatory studies in independent samples are needed.	Case:240:schizophrenics;Control:312 healthy controls										
132629	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.2-p12	PLA2G7	46780236	46811055	n	Hirashiki A 2003	14563588	994G3T (Val279Phe)			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese	Japan	KGB	7941	Hs.584823			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		601690	6561	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
132630	Y	cholesterol	METABOLIC	MET	Coronary Disease|Hypercholesterolemia|Disease Susceptibility	6	6p21.2-p12	PLA2G7	46780236	46811055		Shimokata K 2004	14709372	994G T (Val279Phe)			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Japanese		KGB	7941	Hs.584823			Atherosclerosis. 2004 Jan;172(1):167-73	Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia.		601690	6562	1	2004		Case:3085										
132624		dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	15	15q11.2-q21.3	PLA2G4B	39907580	39927632		Morris, D. W.  et al. 2004	15274049				Phospholipase A2, group IVB (cytosolic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005090.2			CDC GDPinfo	8681	Hs.198161			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):97-103	Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability.		606088	18927	2	2004	We conclude that  neither gene accounts for the association signal we previously observed. As these are the only clear cut functional candidate genes in the region, identification of the putative susceptibility locus for RD on 15q will require more methodical non-hypothesis driven positional cloning approaches.	Case:164 dyslexia cases South Wales and England;Control:174:controls										
132625		schizophrenia	PSYCH	PSY	Schizophrenia	15	15q11.2-q21.3	PLA2G4B	39907580	39927632		Tao, R.  et al. 2005	15999343				Phospholipase A2, group IVB (cytosolic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005090.2			CDC GDPinfo	8681	Hs.198161			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):56-8	Cytosolic PLA2 genes possibly contribute to the etiology of schizophrenia.		606088	18928	2	2005												
132627		schizophrenia	PSYCH	PSY	Schizophrenia	15	15q15.1	PLA2G4D	40147172	40174044		Tao, R.  et al. 2005	16213696				Phospholipase A2, group IVD (cytosolic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178034.2			CDC GDPinfo	283748	Hs.380225			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):419-22	A family based study of the genetic association between the PLA2G4D gene and schizophrenia.			18930	2	2005												
132621		diabetes, type 2; lipids; glucose	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism	1	1q25	PLA2G4A	185064654	185224736		Wolford, J. K.  et al. 2003	12765847				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1	Pima Indian	Arizona	CDC GDPinfo	5321	Hs.497200			Molecular genetics and metabolism. 2003 May;79(1):61-6	Association of a F479L variant in the cytosolic phospholipase A2 gene (PLA2G4A) with decreased glucose turnover and oxidation rates in Pima Indians		600522	18926	2	2003	These results provide evidence supporting a role for the eicosanoid biosynthesis pathway in type 2 diabetes mellitus pathophysiology.	Cohort Pima Indians 										
132622		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25	PLA2G4A	185064654	185224736		Wei, J.  et al. 2005	16181776				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			CDC GDPinfo	5321	Hs.497200			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):441-5	A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia.		600522	23225	2	2005												
132623		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25	PLA2G4A	185064654	185224736		Junqueira, R.  et al. 2004	15318030				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			CDC GDPinfo	5321	Hs.497200			Psychiatric genetics. 2004 Sep;14(3):157-60	Allelic association analysis of phospholipase A2 genes with schizophrenia.		600522	23226	2	2004	In conclusion, our data suggested that iPLA2 may play a role as a susceptibility gene for schizophrenia in our sample; however, confirmatory studies in independent samples are needed.	Case:240:schizophrenics;Control:312 healthy controls										
132617	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25	PLA2G4A	185064654	185224736	n	Price SA et al. 1997	9323323				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			KGB	5321	Hs.497200			Psychiatric genetics. 1997 ;7(3):111-4	Lack of association between schizophrenia and a polymorphism close to the cytosolic phospholipase A2 gene.		600522	5002	1	1997	We report the analysis of this polymorphism in a series of 58 schizophrenic patients and 56 controls and find no evidence for allelic association.											
132619		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	1	1q25	PLA2G4A	185064654	185224736		Pae, C. U.  et al. 2004	15118355				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1	Korean		CDC GDPinfo	5321	Hs.497200			Neuropsychobiology. 2004 ;49(4):185-8	BanI polymorphism of the cytosolic phospholipase A2 gene and mood disorders in the Korean population.		600522	13133	2	2004	This preliminary study indicates the need for further studies on the potential role of the cPLA(2) gene polymorphism in the susceptibility to mood disorders.	Control:117 healthy controls;Case:62/50 patients with major depressive disorder (n=62) and patients with bipolar I disorder (50):Korea										
132620		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25	PLA2G4A	185064654	185224736		Pae, C. U.  et al. 2004	15276701				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			CDC GDPinfo	5321	Hs.497200			Progress in neuro-psychopharmacology & biological psychiatry. 2004 Jul;28(4):739-41	BanI polymorphism of the cytosolic phospholipase A2 gene may confer susceptibility to the development of schizophrenia		600522	13134	2	2004	The results of this study replicated those of previous findings from Western countries and indicates the need for further studies on the potential role of the cPLA2 gene polymorphism in the susceptibility to schizophrenia.	Control:117 healthy controls;Case:97 Korean schizophrenic patients										
132613		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p35	PLA2G2A	20174517	20179496		De Jong, M. M.  et al. 2002	12433710				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			CDC GDPinfo	5320	Hs.466804			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		172411	28471	2	2002	Review article											
132614	Y	weight loss	METABOLIC	MET	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Weight Loss	1	1p36.12	PLA2G2D	20311020	20318595		Takabatake, N.  et al. 2005	16002569				Phospholipase A2, group IID	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012400.2			CDC GDPinfo	26279	Hs.189507			American journal of respiratory and critical care medicine. 2005 Nov;172(9):1097-104	A Novel Polymorphism in Secretory Phospholipase A2-IID Is Associated with Body Weight Loss in Chronic Obstructive Pulmonary Disease.		605630	13132	2	2005												
132616	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q25	PLA2G4A	185064654	185224736	n	Frieboes RM 2001	11353443				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			KGB	5321	Hs.497200	niacin sensitivity		American journal of medical genetics. 2001 Apr;105(3):246-9	Lack of association between schizophrenia and the phospholipase-A(2) genes cPLA2 and sPLA2.		600522	5001	1	2001												
132610	Y	affective disorder	PSYCH	PSY	Depressive Disorder	1	1p35	PLA2G2A	20174517	20179496		Papadimitriou, G. N.  et al. 2003	14639048				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			CDC GDPinfo	5320	Hs.466804			Psychiatric genetics. 2003 Dec;13(4):211-20	Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentrecase-control study.		172411	18922	2	2003	These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.	Case:321 unipolar patients 6 European countries;Control:604:controls										
132611		schizophrenia	PSYCH	PSY	Schizophrenia	1	1p35	PLA2G2A	20174517	20179496		Junqueira, R.  et al. 2004	15318030				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			CDC GDPinfo	5320	Hs.466804			Psychiatric genetics. 2004 Sep;14(3):157-60	Allelic association analysis of phospholipase A2 genes with schizophrenia.		172411	18923	2	2004	In conclusion, our data suggested that iPLA2 may play a role as a susceptibility gene for schizophrenia in our sample; however, confirmatory studies in independent samples are needed.	Case:240:schizophrenics;Control:312 healthy controls										
132612		coronary artery disease risk factors	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2	1	1p35	PLA2G2A	20174517	20179496			16368710				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			CDC GDPinfo	5320	Hs.466804			Human molecular genetics. 2006 Jan;15(2):355-61	Tagging SNP haplotype analysis of the secretory PLA2-IIa gene PLA2G2A shows strong association with serum levels of sPLA2IIa: results from the UDACSstudy		172411	18924	2	2005												
132607	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q23-q24.1	PLA2G1B	119244296	119249975		Rybakowski, J. K.  et al. 2003	12759552				Phospholipase A2, group IB (pancreas)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000928.2			CDC GDPinfo	5319	Hs.992			Neuropsychobiology. 2003 ;47(3):115-9	The study of cytosolic phospholipase A2 gene polymorphism in schizophrenia using eye movement disturbances as an endophenotypic marker		172410	13131	2	2003	Our results correspond to the other studies showing an association between the cPLA2 polymorphism and schizophrenia (predominance of the A2 allele in schizophrenic subjects).	Cohort 126 schizophrenic patients 										
132608	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q23-q24.1	PLA2G1B	119244296	119249975		Frieboes, R. M.  et al. 2001	11353443				Phospholipase A2, group IB (pancreas)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000928.2			CDC GDPinfo	5319	Hs.992			American journal of medical genetics. 2001 Apr;105(3):246-9	Lack of association between schizophrenia and the phospholipase-A(2) genes cPLA2 and sPLA2.		172410	18921	2	2001	our results do not provide support for the phospholipase-A(2) hypothesis of schizophrenia. Additional studies will be necessary to rule out a possible confounding effect of niacin sensitivity	Control parents of the cases;Case:328 unrelated schizophrenic patients Chinese and European										
132609		familial adenomatous polyposis	CANCER	CAN	Adenomatous Polyposis Coli	1	1p35	PLA2G2A	20174517	20179496		Dobbie Z et al. 1996	8707313				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			KGB	5320	Hs.466804			Human genetics. 1996 Sep;98(3):386-90	Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis.		172411	5000	1	1996												
132602	Y	hereditary hemolytic anemia.	OTHER	OTH	Anemia, Hemolytic, Congenital	1	1q21	PKLR	153526253	153537835		Kanno H et al. 1992	1536957				pyruvate kinase, liver and RBC	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000298.4		Japan	KGB	5313	Hs.95990			Blood. 1992 Mar;79(5):1347-50	Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia.		266200	4996	1	1992												
132604	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q23-q24.1	PLA2G1B	119244296	119249975	n	Strauss J et al. 1999	10551547				Phospholipase A2, group IB (pancreas)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000928.2			KGB	5319	Hs.992			Psychiatric genetics. 1999 Sep;9(3):153-5	Lack of association between schizophrenia and a pancreatic phospholipase A-2 gene (PLA2G1B) polymorphism.		172410	4997	1	1999												
132605	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q23-q24.1	PLA2G1B	119244296	119249975	n	Frieboes RM 2001	11353443				Phospholipase A2, group IB (pancreas)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000928.2			KGB	5319	Hs.992			American journal of medical genetics. 2001 Apr;105(3):246-9	Lack of association between schizophrenia and the phospholipase-A(2) genes cPLA2 and sPLA2.		172410	4998	1	2001	our results do not provide support for the phospholipase-A(2) hypothesis of schizophrenia. Additional studies will be necessary to rule out a possible confounding effect of niacin sensitivity	Control parents of the cases;Case:328 unrelated schizophrenic patients Chinese and European										
132599		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant	4	4q21-q23	PKD2	89147843	89217953		Chang, M. Y.  et al. 2005	15717641				Polycystic kidney disease 2 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000297.2	Taiwanese	Taiwan	CDC GDPinfo	5311	Hs.181272			Renal failure. 2005 ;27(1):95-100	Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.		173910	18919	2	2005	 The study identified two novel mutations and one recurrent mutation of the PKD2 gene in 20 Taiwanese patients. The characteristics of the mutations in this study resemble those reported among Western populations.	Cohort 20 unrleated autosomal dominant polycystic kidney disease patients Taiwan 										
132600		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Recessive	6	6p12.2	PKHD1	51588103	52060382		Bergmann, C.  et al. 2005	16199545				Polycystic kidney and hepatic disease 1 (autosomal recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138694.2			CDC GDPinfo	5314	Hs.446118			Journal of medical genetics. 2005 Oct;42(10):e63	Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).		606702	18920	2	2005	 Gross PKHD1 deletions account for a detectable proportion of ARPKD cases. Screening for major genomic PKHD1 rearrangements will further improve mutation analysis in ARPKD.											
132601	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21	PKLR	153526253	153537835		Wang H et al. 2002	12196482				Pyruvate kinase, liver and RBC	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000298.4	caucasian	Europe	KGB	5313	Hs.95990			Diabetes. 2002 Sep;51(9):2861-5	Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians.		266200	4995	1	2002												
132594		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490		Stopkova, P.  et al. 2005	16094259			promoter	Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3			CDC GDPinfo	5305	Hs.588901			Psychiatric genetics. 2005 Sep;15(3):223-7	Screening of PIP5K2A promoter region for mutations in bipolar disorder and schizophrenia.		603140	18914	2	2005	 The data suggest that homozygosity for -1007T could be a rare genetic factor in the development of schizophrenia.											
132596	Y	Peters' anomaly	VISION	VIS	Eye Abnormalities	4	4q25-q27	PITX2	111758028	111782566		Doward W et al. 1999	10051017				paired-like homeodomain transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153427.1			KGB	5308	Hs.643588			Journal of medical genetics. 1999 Feb;36(2):152-5	A mutation in the RIEG1 gene associated with Peters' anomaly.		601542	4994	1	1999												
132597	N	glaucoma, early-onset	VISION	VIS	Glaucoma	4	4q25-q27	PITX2	111758028	111782566		Vincent, A. L.  et al. 2002	11774072				Paired-like homeodomain transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153427.1		Canada	CDC GDPinfo	5308	Hs.643588			American journal of human genetics. 2002 Feb;70(2):448-60	Digenic inheritance of early-onset glaucoma:CYP1B1, a potential modifier gene.		601542	25421	2	2002	This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway.	Cohort 60 indiviuals with juvenile or early-onset glaucoma greater Toronto area, Canada 										
132590		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Klein, C.  et al. 2005	15970950				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1	Italian	Italy	CDC GDPinfo	65018	Hs.389171			European journal of human genetics. 2005 Sep;13(9):1086-93	PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.		608309	25420	2	2005												
132591		Parkinson's disease	NEUROLOGICAL	NEUR		1	1p36	PINK1	20832534	20850591		Paisan-Ruiz, C.  et al. 2005	15958754				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Neurology    2005	LRRK2 gene in Parkinson disease.		608309	26496	2	2005												
132592	Y	prostate cancer	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Bladder Neoplasms|Translocation, Genetic	7	7q34	PIP	142539295	142546956		Autiero M et al. 1999	10390157				Prolactin-induced protein				KGB	5304	Hs.99949			DNA and cell biology. 1999 Jun;18(6):481-7	Abnormal restriction pattern of PIP gene associated with human primary prostate cancers.		176720	4992	1	1999												
132593		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490		Stopkova, P.  et al. 2003	14582145				Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3			CDC GDPinfo	5305	Hs.588901			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Nov;123(1):50-8	Polymorphism screening of PIP5K2A: a candidate genefor chromosome 10p-linked psychiatric disorders.		603140	13129	2	2003	These data suggest that the imperfect CT repeat in PIP5K2A intron 9 should be further investigated as a possible candidate allele for 10p12-linked psychiatric disorders.	Case biplar and schizophrenic subjects;Control:controls										
132586	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Deng, H.  et al. 2005	15876334				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1	Caucasian	United States	CDC GDPinfo	65018	Hs.389171			Acta neurologica Scandinavica. 2005 Jun;111(6):351-2	G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients		608309	18908	2	2005	 The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.	Cohort 237 unrelated Caucasian Parkinson's disease patients 										
132587	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p36	PINK1	20832534	20850591		Bonifati, V.  et al. 2005	16009891				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Neurology. 2005 Jul;65(1):87-95	Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.		608309	18911	2	2005	 PINK1 homozygous mutations are a relevant cause of disease among Italian sporadic patients with early-onset parkinsonism. The role of mutations found in single heterozygous state is difficult to interpret. Our study suggests that, at least in some patients, these mutations are disease causing, in combination with additional, still unknown factors.											
132588		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Fung, H. C.  et al. 2005	16257123				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Neuroscience letters. 2006 Feb;394(1):33-6	Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan.		608309	18912	2	2005												
132583	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	1	1p36	PINK1	20832534	20850591		Valente, E. M.  et al. 2004	15349860				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Annals of neurology. 2004 Sep;56(3):336-41	PINK1 mutations are associated with sporadic early-onset parkinsonism		608309	18905	2	2004	The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified.	Case:100 Italian early onset Parkinson's disease patients, mostly sporadic, with onset younger than 50 years of age;Control:200 healthy controls										
132584	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression|Genetic Predisposition to Disease	1	1p36	PINK1	20832534	20850591		Healy, D. G.  et al. 2004	15505171				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1		Ireland	CDC GDPinfo	65018	Hs.389171			Neurology. 2004 Oct;63(8):1486-8	PINK1 (PARK6) associated Parkinson disease in Ireland		608309	18906	2	2004	Overall, these data indicate that PINK1 mutations are a rare cause of PD in Ireland.	Cohort 290 well-characterized early- and late-onset PD patients Ireland 										
132585	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Rogaeva, E.  et al. 2004	15596610				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Archives of neurology. 2004 Dec;61(12):1898-904	Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.		608309	18907	2	2004	 Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease.	Case:289 Parkinson's disease patients;Control:80/150 neurologically normal control subjects (n=80) and additional controls (100 white and 50 Filipino:subjects)										
132579	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13	PIN1	9806998	9821358			16384626			promoter	Protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006221.2			CDC GDPinfo	5300	Hs.465849			Neurobiology of aging. Epub 2005 Dec	PIN1 promoter polymorphisms are associated with Alzheimer's disease		601052	13126	2	2005												
132580		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13	PIN1	9806998	9821358		Poli, M.  et al. 2005	16095818				Protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006221.2			CDC GDPinfo	5300	Hs.465849			Neuroscience letters. 2005 Dec;389(2):66-70	DNA sequence variations in the prolyl isomerase Pin1 gene and Alzheimer's disease.		601052	18904	2	2005	We conclude that  Pin1 is a very well conserved gene, whose rare nucleotide variations have no effect on the individual genetic risk for AD.											
132581	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Groen, J. L.  et al. 2004	15542245				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1		Canada	CDC GDPinfo	65018	Hs.389171			Neuroscience letters. 2004 Dec;372(3):226-9	Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.		608309	13127	2	2004	Our results did not reveal any evidence of association between PD and any of the three SNPs at the allelic or genotypic levels (p>0.25). Furthermore, we did not detect a modifying effect for any genotype upon the age of onset in the PD group (p>0.19). Nevertheless, it remains to be evaluated whether PINK1 variations contribute to the risk of common late onset sporadic PD.	Control:182 normal controls;Case:91 Caucasian Canadian Parkinson's disease patients										
132576		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q13.1	PIK3R1	67547359	67633405		Barroso, I.  et al. 2003	14551916				Phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181523.1			CDC GDPinfo	5295	Hs.132225			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		171833	27173	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
132577		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Body Weight	5	5q13.1	PIK3R1	67547359	67633405		Laukkanen, O.  et al. 2004	15127203				Phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181523.1		Finland	CDC GDPinfo	5295	Hs.132225			Diabetologia. 2004 May;47(5):871-7	Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weightchange and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.		171833	27174	2	2004	The common polymorphisms of the IGF-1R, IRS-1 and IRS-2 genes may modify the weight change response to a lifestyle intervention but not the conversion from IGT to Type 2 diabetes, whereas IGF-1R may also regulate the risk of developing Type 2 diabetes.	Cohort 490 overweight subjects with impaired glucose tolerance whose DNA was available from the Finnish Diabetes Prevention Study 	diet physical activity									
132578		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders	22	22q11.21	PIK4CA	19391990	19543100		Saito, T.  et al. 2003	12497619				Phosphatidylinositol 4-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002650.1			CDC GDPinfo	5297	Hs.529438			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):77-83	Polymorphism screening of PIK4CA: possiblecandidate gene for chromosome 22q11-linked psychiatric disorders.		600286	13125	2	2003	Although the results of this analysis were modest, considering the heterogeneity of BPD and SZ and the hypothesis that BPD may be caused by abnormalities in genes that regulate PI-mediated phenomena in the brain, the polymorphisms we detected in the PIK4CA gene should be analyzed in a larger data set to help determine their significance in 22q11-linked mental disorders.	Case bipolar and schizophrenic patients;Control:controls										
132573		diabetes, type 2; hypertension	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q13.1	PIK3R1	67547359	67633405		Chen, S.  et al. 2005	15910625				Phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181523.1	Chinese	China	CDC GDPinfo	5295	Hs.132225			Diabetic medicine. 2005 Jun;22(6):737-43	Association analysis of the variant in the regulatory subunit of phosphoinositide 3-kinase (p85alpha) with Type 2 diabetes mellitus and hypertension in the Chinese Han population.		171833	18903	2	2005	 Our data indicate that the Met326Ile variation in the gene encoding the p85alpha protein might contribute to the increased risk of Type 2 DM and hypertension in Chinese.	Case:494 patients with type 2 diabetes and hypertension north China;Control:557 normal controls										
132574		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Insulin Resistance	5	5q13.1	PIK3R1	67547359	67633405		Liolitsa, D.  et al. 2002	12185156				Phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181523.1			CDC GDPinfo	5295	Hs.132225			Journal of neurology, neurosurgery, and psychiatry. 2002 Sep;73(3):261-6	Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease		171833	23224	2	2002	 The results support the hypothesis for a common genetic aetiology predisposing to insulin resistance and AD.	Control age-matched normal subjects;Case:202 patients with late onset AD										
132575	Y	periodontitis	IMMUNE	IMM	Periodontitis	5	5q13.1	PIK3R1	67547359	67633405		Suzuki, A.  et al. 2004	15490304				Phosphoinositide-3-kinase, regulatory subunit 1 (p85 alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181523.1		Japan	CDC GDPinfo	5295	Hs.132225			Odontology. 2004 Sep;92(1):43-7	Large-scale investigation of genomic markers for severe periodontitis.		171833	27172	2	2004	These results suggest that SNPs in the GNRH1, PIK3R1, DPP4, FGL2, and CALCR genes are genomic markers for severe periodontitis. Our findings indicate the necessity of analyzing SNPs in genes on a large scale (i.e., genome-wide approach), to identify genomic markers for periodontitis.	Control:19 healthy volunteers;Case:22 Japanese patients with severe periodontitis										
132570		esophageal cancer; Barrett's esophagus	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Barrett Esophagus	3	3q22.3	PIK3CB	139855549	139960875			16380997				Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1			CDC GDPinfo	5291	Hs.239818			International journal of cancer Journal international du cancer. 2005	Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus		602925	23223	2	2005												
132571		longevity	AGING	AGE		3	3q22.3	PIK3CB	139855549	139960875		Kojima, T.  et al. 2004	15582274				Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1	Japanese		CDC GDPinfo	5291	Hs.239818			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		602925	26495	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
132572		longevity	AGING	AGE		7	7q22.3	PIK3CG	106292976	106334828		Kojima, T.  et al. 2004	15582274				Phosphoinositide-3-kinase, catalytic, gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002649.2	Japanese		CDC GDPinfo	5294	Hs.32942			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		601232	27171	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
132567		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q22.3	PIK3CB	139855549	139960875		Kossila M 2000	11016459				Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1	Finnish		Y Wang	5291	Hs.239818			Diabetes. 2000 Oct;49(10):1740-3	Gene encoding the catalytic subunit p110beta of human phosphatidylinositol 3-kinase: cloning, genomic structure, and screening for variants in patients with type 2 diabetes.		602925	4990	1	2000												
132568	N	diabetes, type 2	METABOLIC	MET	Insulin Resistance	3	3q22.3	PIK3CB	139855549	139960875	n	Kossila M et al. 2003	12502677	-359T/C and -303A/G		Promoter	Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1	Finnish	Finland	KGB	5291	Hs.239818	insulin secretion or insulin sensitivity		Diabetes care. 2003 Jan;26(1):179-82	Promoter polymorphisms -359T/C and -303A/G of the catalytic subunit p110beta gene of human phosphatidylinositol 3-kinase are not associated with insulin secretion or insulin sensitivity in finnish subjects.		602925	4991	1	2003	 It is unlikely that the promoter polymorphisms -359T/C and -303A/G of the catalytic subunit p110beta gene of human PI 3-kinase have a major impact on insulin secretion, insulin sensitivity, or the risk of type 2 diabetes in Finnish subjects.	Cohort two separate groups of Finnish nondiabetic subjects										
132569	N	insulin	METABOLIC	MET	Insulin Resistance	3	3q22.3	PIK3CB	139855549	139960875		Kossila, M.  et al. 2003	12502677	( -359T/C and -303A/G)		promoter	Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1	Finnish	Finland	CDC GDPinfo	5291	Hs.239818			Diabetes care. 2003 Jan;26(1):179-82	Promoter polymorphisms -359T/C and -303A/G of the catalytic subunit p110beta gene of human phosphatidylinositol 3-kinase are not associated with insulin secretion or insulin sensitivity in finnish subjects.		602925	13123	2	2003	 It is unlikely that the promoter polymorphisms -359T/C and -303A/G of the catalytic subunit p110beta gene of human PI 3-kinase have a major impact on insulin secretion, insulin sensitivity, or the risk of type 2 diabetes in Finnish subjects.	Cohort two separate groups of Finnish nondiabetic subjects 										
132563		breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	3	3q26.3	PIK3CA	180349004	180435191			16353168				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			The Journal of pathology. 2006 Feb;208(3):350-5	PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobularcarcinoma		171834	18900	2	2005												
132564		esophageal cancer; Barrett's esophagus	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Barrett Esophagus	3	3q26.3	PIK3CA	180349004	180435191			16380997				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			International journal of cancer Journal international du cancer. 2005	Mutation analysis of PIK3CA and PIK3CB in esophageal cancer and Barrett's esophagus		171834	18901	2	2005												
132565		colorectal cancer; stomach cancer	CANCER	CAN	Colonic Neoplasms|Stomach Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Velho, S.  et al. 2005	15994075				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			Eur J Cancer. 2005 Jul;41(11):1649-54	The prevalence of PIK3CA mutations in gastric and colon cancer.		171834	25419	2	2005												
132566		human longevity	AGING	AGE		3	3q22.3	PIK3CB	139855549	139960875		Bonafe M 2003	12843179				Phosphoinositide-3-kinase, catalytic, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006219.1			KGB	5291	Hs.239818			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3299-304	Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.		602925	4989	1	2003												
132559	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	18	18q12.3	PIK3C3	37789196	37915444		Stopkova, P.  et al. 2004	15121481			promoter	Phosphoinositide-3-kinase, class 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002647.2			CDC GDPinfo	5289	Hs.464971			Biological psychiatry. 2004 May;55(10):981-8	Identification of PIK3C3 promoter variant associated with bipolar disorder and schizophrenia.		602609	18896	2	2004	 A promoter mutation in a PI regulator affecting the binding of a POU-type transcription factor may be involved in BD and SZ in a subset of patients.	Case unrelated bipolar disorder and scizophrenic patients from three cohorts;Control:controls										
132560		thyroid cancer	CANCER	CAN	Thyroid Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Wu, G.  et al. 2005	15928251				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			The Journal of clinical endocrinology and metabolism. 2005 Aug;90(8):4688-93	Uncommon mutation, but common amplifications, of the PIK3CA gene in thyroid tumors.		171834	18897	2	2005	 These data suggest that mutation of the PIK3CA gene is not common, but its amplification is relatively common and may be a novel mechanism in activating the PI3K/Akt pathway in some thyroid tumors.											
132562	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness	3	3q26.3	PIK3CA	180349004	180435191			16317585				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			Breast cancer research and treatment. 2005	PIK3CA mutations in breast cancer are associated with poor outcome		171834	18899	2	2005												
132556	Y	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	1	1q31-q41	PIGR	205168494	205186430		Obara, W.  et al. 2003	12740691				Polymeric immunoglobulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002644.2	Japanese	Japan	CDC GDPinfo	5284	Hs.497589			Journal of human genetics. 2003 ;48(6):293-9	Association of single-nucleotide polymorphisms in the polymeric immunoglobulin receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patients.		173880	13121	2	2003	Our results suggest that a gene associated with susceptibility to IgAN lies within or close to the PIGR gene locus on chromosome 1q in the Japanese population.	Case:389 Japanese immunoglobulin A nephropathy patients;Control:465:controls										
132557		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	1	1q31-q41	PIGR	205168494	205186430		Fan, Q.  et al. 2005	16086865				Polymeric immunoglobulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002644.2			CDC GDPinfo	5284	Hs.497589			Ai zheng. 2005 Aug;24(8):915-8	[Correlation of polymeric immunoglobulin receptor gene polymorphisms to susceptibility of nasopharyngeal carcinoma]		173880	13122	2	2005	 SNP C8880T of pIgR is related with NPC susceptibility; pIgR gene may be associated to risk of NPC development.											
132558		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	1	1q31-q41	PIGR	205168494	205186430		Hirunsatit, R.  et al. 2003	12546713				Polymeric immunoglobulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002644.2			CDC GDPinfo	5284	Hs.497589			BMC genetics [electronic resource]. 2003 Jan;4:3	Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.		173880	23222	2	2003	 We present genetic evidence leading to hypothesize a possibility of PIGR to function as the EBV nasopharyngeal epithelium receptor via IgA-EBV complex transcytosis failure. The PIGR1739C-->T is a missense mutation changing alanine to valine near endoproteolytic cleavage site. This variant could alter the efficiency of PIGR to release IgA-EBV complex and consequently increase the susceptibility of populations in endemic areas to develop NPC.	Case:175 nasopharyngeal cancer cases;Control:317 controls, divided into Thai, Chinese and Thai-Chinese based on their respective ethnic:origins										
132552		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	4	4p12	PHOX2B	41440856	41445744		Ide, M.  et al. 2005	16021468				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			CDC GDPinfo	8929	Hs.87202			Human genetics. 2005 Oct;117(6):520-7	Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence forassociation of ASCL1 with Parkinson's disease.		603851	23221	2	2005												
132553		SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death	4	4p12	PHOX2B	41440856	41445744		Weese-Mayer, D. E.  et al. 2004	15240857				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			CDC GDPinfo	8929	Hs.87202			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		603851	27818	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
132554	N	psoriasis	IMMUNE	IMM	Psoriasis	20	20q12-q13	PI3	43236911	43238599	n	Kuijpers AL et al. 1998	9727750				peptidase inhibitor 3, skin-derived (SKALP)				KGB	5266	Hs.112341			Clinical genetics. 1998 Jul;54(1):96-101	SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis.		182257	4987	1	1998	there is no allelic association between pustular psoriasis and SKALP gene polymorphisms.											
132549	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Genetic Predisposition to Disease	4	4p12	PHOX2B	41440856	41445744		Garcia-Barcelo, M.  et al. 2003	12631670				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			CDC GDPinfo	8929	Hs.87202			Gut. 2003 Apr;52(4):563-7	Association study of PHOX2B as a candidate gene for Hirschsprung's disease.		603851	18893	2	2003	 The PHOX2B A-->G(1364) polymorphism is associated with HSCR. Whether it directly contributes to disease susceptibility or represents a marker for a locus in LD with PHOX2B needs further investigation. Our findings are in accordance with the involvement of PHOX2B in the signalling pathways governing the development of enteric neurones.	Control:71 ethnically matched controls;Case:91 patients with Hirschsprung's disease										
132550	Y	congenital central hypoventilation syndrome	DEVELOPMENTAL	DEV	Hirschsprung Disease|Sleep Apnea, Central	4	4p12	PHOX2B	41440856	41445744		Trang, H.  et al. 2005	15653965				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2	French	France	CDC GDPinfo	8929	Hs.87202			Chest. 2005 Jan;127(1):72-9	The French congenital central hypoventilation syndrome registry: general data, phenotype, andgenotype		603851	18894	2	2005	 Our four major findings are the extreme rarity of CCHS, the improved recognition over time, the lack of effect of HSCR on the mortality rate, and the high frequency of PHOX2B mutations.	Cohort 34 French congenital central hypoventilation syndrome cases 										
132551		congenital central hypoventilation syndrome	DEVELOPMENTAL	DEV	Nervous System Neoplasms|Hirschsprung Disease|Sleep Apnea, Central|Autonomic Nervous System Diseases	4	4p12	PHOX2B	41440856	41445744		Trochet, D.  et al. 2005	15657873				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			CDC GDPinfo	8929	Hs.87202			American journal of human genetics. 2005 Mar;76(3):421-6	PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome		603851	18895	2	2005	These data further highlight the link between congenital malformations and tumor predisposition when a master gene in development is mutated.	Cohort 188 probands with congenital central hypoventilation syndrome 										
132546		SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death	11	11q13.2	PHOX2A	71627768	71632852		Weese-Mayer, D. E.  et al. 2004	15240857				Paired-like (aristaless) homeobox 2a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005169.2			CDC GDPinfo	401	Hs.632130			Pediatric research. 2004 Sep;56(3):391-5	Sudden infant death syndrome: case-controlfrequency differences at genes pertinent to early autonomic nervous system embryologic development.		602753	27593	2	2004	These data represent further refinement of the genetic profile that might place an infant at risk for SIDS.	Control:92 gender- and ethnicity-matched control subjects;Case:92 probands with SIDS										
132547	Y	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Genetic Predisposition to Disease	4	4p12	PHOX2B	41440856	41445744		Garcia-Barcelo M et al. 2003	12631670				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			KGB	8929	Hs.87202			Gut. 2003 Apr;52(4):563-7	Association study of PHOX2B as a candidate gene for Hirschsprung's disease.		603851	6608	1	2003	 The PHOX2B A-->G(1364) polymorphism is associated with HSCR. Whether it directly contributes to disease susceptibility or represents a marker for a locus in LD with PHOX2B needs further investigation. Our findings are in accordance with the involvement of PHOX2B in the signalling pathways governing the development of enteric neurones.	Control:71 ethnically matched controls;Case:91 patients with Hirschsprung's disease										
132548		germline mutations	OTHER	OTH	Neuroblastoma|Genetic Predisposition to Disease	4	4p12	PHOX2B	41440856	41445744		Trochet D 2004	15024693				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			KGB	8929	Hs.87202			American journal of human genetics. 2004 Apr;74(4):761-4	Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.		603851	6609	1	2004												
132542	Y	asthma	IMMUNE	IMM	Asthma	13	13q14.2	PHF11	48967801	49001118	p=0.0004	Zhang Y 2003	12754510	These SNPs are within 8.1 kb of each other and are found respectively in intron IX intron V and the 3' untranslated region of PHF11.			PHD finger protein 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040443.1	European descent Western austrailia UK		KGB	51131	Hs.369039			Nature genetics. 2003 Jun;34(2):181-6			607796	6760	1	2003												
132544	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	13	13q14.2	PHF11	48967801	49001118		Jang, N.  et al. 2005	15674390				PHD finger protein 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040443.1			CDC GDPinfo	51131	Hs.369039			Genes and immunity. 2005 May;6(3):262-4	Polymorphisms within the PHF11 gene at chromosome 13q14 are associated with childhood atopic dermatitis.		607796	13117	2	2005												
132545		congenital fibrosis of extraocular muscles type 2	OTHER	OTH	Ophthalmoplegia|Exotropia|Blepharoptosis|Fibrosis	11	11q13.2	PHOX2A	71627768	71632852		Yazdani A 2003	14597037				Paired-like (aristaless) homeobox 2a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005169.2	fibrosis	Iran	KGB	401	Hs.632130			American journal of ophthalmology. 2003 Nov;136(5):861-5	A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).		602753	906	1	2003	 The 439C-->T mutation in this family changes a glutamine to a stop codon (Q90X) at the beginning of the PHOX2A homeodomain region. This is the fourth CFEOM2 mutation in PHOX2A and the first nonsense mutation to be identified. It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.											
132538	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	PHB	44836418	44847241	n	Spurdle AB 2003	12821355			3'untranslated	Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2			KGB	5245	Hs.514303			Gynecologic oncology. 2003 Jul;90(1):145-9	The prohibitin 3' untranslated region polymorphism is not associated with risk of ovarian cancer.		176705	4963	1	2003	 The prohibitin T variant does not appear to be associated with risk of ovarian cancer in Australian women.	Control:300 unaffected controls;Case:553 cases of epithelial ovarian cancer:Australia										
132539		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	PHB	44836418	44847241		Jupe, E. R.  et al. 2001	11377649				Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2			CDC GDPinfo	5245	Hs.514303			Lancet. 2001 May;357(9268):1588-9	Single nucleotide polymorphism in prohibitin 39 untranslated region and breast-cancer susceptibility.		176705	13114	2	2001	These data suggest that prohibitin genotyping has value in assessing risk of breast cancer in women aged 50 years or younger with at least one first-degree relative with the disease.	Control:1046 healthy controls;Case:205 women with breast cancer										
132540	N	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	PHB	44836418	44847241		Spurdle, A. B.  et al. 2002	12354477			3' UTR	Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2	Australian	Australia	CDC GDPinfo	5245	Hs.514303			Lancet. 2002 Sep;360(9337):925-6	Prohibitin 3' untranslated region polymorphism and breast cancer risk in Australian women.		176705	13115	2	2002	Hence, our results do not lend support to the hypothesis that this polymorphism contributes to risk of breast cancer.	Case:1446 patients with breast cancer:Australia;Control:786:controls										
132541	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	PHB	44836418	44847241		Spurdle, A. B.  et al. 2003	12821355			3' UTR	Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2	Australian		CDC GDPinfo	5245	Hs.514303			Gynecologic oncology. 2003 Jul;90(1):145-9	The prohibitin 3' untranslated region polymorphism is not associated with risk of ovarian cancer.		176705	13116	2	2003	 The prohibitin T variant does not appear to be associated with risk of ovarian cancer in Australian women.	Control:300 unaffected controls;Case:553 cases of epithelial ovarian cancer:Australia										
132534	Y	hormone disturbance	METABOLIC	MET		11	11q22-q23	PGR	100414312	100506465		Westberg, L.  et al. 2004	15272917				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Clinical endocrinology. 2004 Aug;61(2):216-23	Polymorphisms in oestrogen and progesterone receptor genes: possible influence on prolactinlevels in women.		607311	25418	2	2004	 These data suggest that genetic variants of both the ERbeta and the PGR may influence prolactin release.	Cohort 270 42-year-old women 										
132536		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Guo, S. W.   2005	16244490				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Gynecologic and obstetric investigation. 2005 Oct;61(2):90-105	Association of Endometriosis Risk and Genetic Polymorphisms Involving Sex Steroid Biosynthesis and Their Receptors: A Meta-Analysis.		607311	27169	2	2005												
132537		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Fukatsu, T.  et al. 2004	15330195				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2	Japanese	Japan	CDC GDPinfo	5241	Hs.368072			Anticancer research. 2004 Jul-Aug;24(4):2431-7	Genetic polymorphisms of hormone-related genes and prostate cancer risk in the Japanese population.		607311	27170	2	2004	This pilot study showed that CYP1B1 and PR polymorphisms, alone or in combination, might be associated with prostate cancer risk. They might, therefore, have potential as a tool for identifying high-risk individuals.	Case:147 Japanese prostate cancer patients;Control:266 urological controls										
132531	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Runnebaum, I. B.  et al. 2001	11668223				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Pharmacogenetics. 2001 Oct;11(7):635-8	Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives		607311	25415	2	2001	Among the 214 carriers with no past exposure to oral contraceptives, the presence of one or more PROGINS alleles was associated with an OR of 2.4 for ovarian cancer, compared to women without ovarian cancer and with no PROGINS allele (P = 0.004; 95% CI 1.4-4.3). The association was present after adjustment for ethnic group and for year of birth.	Case:195 BRCA1 and BRCA2 carriers with a prior diagnosis of ovarian cancer;Control:249 carriers with neither cancer;Case:392 BRCA1 and BRCA2 carriers with a diagnosis of breast:cancer										
132532		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Colson, N. J.  et al. 2005	15654614				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Neurogenetics. 2005 Feb;6(1):17-23	Investigation of hormone receptor genes in migraine.		607311	25416	2	2005												
132533		osteoporosis	METABOLIC	MET	Osteoporosis	11	11q22-q23	PGR	100414312	100506465		Gennari, L.  et al. 2002	12127038				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			The Journal of steroid biochemistry and molecular biology. 2002 May;81(1):24-Jan	Genetics of osteoporosis: role of steroid hormonereceptor gene polymorphisms.		607311	25417	2	2002	Review article											
132526	Y	endometriosis	REPRODUCTION	REP	Ovarian Cysts|Peritoneal Diseases|Endometriosis|Adhesions|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Lattuada, D.  et al. 2004	15272913				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Clinical endocrinology. 2004 Aug;61(2):190-4	Genetics of endometriosis: a role for theprogesterone receptor gene polymorphism PROGINS?		607311	18890	2	2004	 Our results further support the idea that the PROGINS polymorphism of the progesterone receptor may be associated with an increased risk of endometriosis.	Control:127 Italian women without laparoscopic evidence of the:disease;Case:131 Italian women affected by endometriosis										
132527	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Terry, K. L.  et al. 2005	15718480				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Massachusetts|New Hampshire	CDC GDPinfo	5241	Hs.368072			American journal of epidemiology. 2005 Mar;161(5):442-51	Genetic variation in the progesterone receptor gene and ovarian cancer risk.		607311	18891	2	2005	No associations were observed between the +44C/T, +331G/A, and G393G polymorphisms and ovarian cancer. However, an inverse association was observed between the V660L variant and ovarian	Control:1,034:controls;Case:987 ovarian cancer cases New Hampshire and eastern Massachusetts:May, 1992 - Nov, 2002										
132529		cholesterol; cholesterol, LDL	METABOLIC	MET		11	11q22-q23	PGR	100414312	100506465		Almeida, S.  et al. 2005	15381922				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			The pharmacogenomics journal. 2005 ;5(1):30-4	Estrogen receptor 2 and progesterone receptor gene polymorphisms and lipid levels in women with different hormonal status.		607311	23219	2	2005			hormone replacement therapy menopause									
132523	Y	endometrioid and clear cell ovarian cancer	CANCER	CAN	Adenocarcinoma, Clear Cell|Ovarian Neoplasms|Endometrial Neoplasms	11	11q22-q23	PGR	100414312	100506465		Berchuck, A.  et al. 2004	15598772	(+331A)		promoter	Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2141-7	Progesterone receptor promoter +331A polymorphism is associated with a reduced risk of endometrioid and clear cell ovarian cancers.		607311	13111	2	2004	 These findings suggest that the +331G/A progesterone receptor promoter polymorphism may modify the molecular epidemiologic pathway that encompasses both the development of endometriosis and its subsequent transformation into endometrioid/clear cell ovarian cancer.	Control:298 controls from Australia;Case:438 ovarian cancer cases North Carolina;Control:504 controls from North Carolina;Case:535 ovarian cancer cases:Austrailia										
132524	Y	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Pearce, C. L.  et al. 2005	15632380				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Journal of the National Cancer Institute. 2005 Jan;97(1):51-9	Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-basedanalysis.		607311	13112	2	2005	 Variation in PGR was associated with ovarian cancer risk, although the strongest result was not with the PROGINS allele. Instead, any causal allele(s) are likely in or downstream of block 4 and carried on haplotypes 4-D and 4-E. There was some evidence that the same variation was associated with a reduced risk of breast cancer, but the association was not statistically significant.	Case:1,715 breast cancer cases from a cohort study;Control:2,505 control subjects from a cohort study;Case:267 ovarian cancer patients;Control:397 controls subjects from two case-control studies										
132525	Y	endometriosis	REPRODUCTION	REP	Endometriosis	11	11q22-q23	PGR	100414312	100506465		Treloar, S. A.  et al. 2005	16126772				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Molecular human reproduction. 2005 Sep;11(9):641-7	Association between polymorphisms in the progesterone receptor gene and endometriosis.		607311	13113	2	2005												
132519	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		De Vivo, I.  et al. 2003	14500352				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Cancer research. 2003 Sep;63(17):5236-8	A functional polymorphism in the progesterone receptor gene is associated with an increase in breast cancer risk.		607311	13107	2	2003	Our findings suggest that the increased production of hPR-B by the +331 G/A polymorphism may predispose women to breast cancer development through increased hPR-B-dependent stimulation of mammary cell growth.	Control:1,364 controls within the Nurses' Healthy Study cohort;Case:990 breast cancer cases within the Nurses' Health Study:cohort										
132520		infertility, female	REPRODUCTION	REP		11	11q22-q23	PGR	100414312	100506465		Cramer, D. W.  et al. 2003	14586360				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			American journal of obstetrics and gynecology. 2003 Oct;189(4):1085-92	Human progesterone receptor polymorphisms and implantation failure during in vitro fertilization.		607311	13108	2	2003	 Although human progesterone receptor polymorphisms do not clearly affect the risk for implantation failure in most women who undergo in vitro fertilization, the likelihood that a woman carries the +331G/A human progesterone receptor polymorphism increases with the number of failed attempts at implantation.	Control:288 control women who became pregnant after 1 in vitro fertilization attempt;Case:317 women who had >=2 embryo transfers without a clinical pregnancy										
132521		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	11	11q22-q23	PGR	100414312	100506465		Schweikert, A.  et al. 2004	15036714				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			European journal of obstetrics, gynecology, and reproductive biology. 2004 Mar;113(1):67-72	Association of progesterone receptor polymorphism with recurrent abortions.		607311	13109	2	2004	 The data suggest that the rarer PR allele may be associated with an increased likelihood of repeated miscarriages contributing to its multi-factorial causes.	Control:40:controls;Case:42 women with repeated abortions										
132516	N	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	11	11q22-q23	PGR	100414312	100506465		Fabjani, G.  et al. 2002	12038703				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Austria	CDC GDPinfo	5241	Hs.368072			Breast cancer research and treatment. 2002 Mar;72(2):131-7	Human progesterone receptor gene polymorphism PROGINS and risk for breast cancer in Austrian women.		607311	13104	2	2002	No statistically significant difference was found between breast cancer patients and healthy control group, indicating that PROGINS is not associated with either an increased or a decreased risk for breast cancer. Furthermore, no associations between the PROGINS status and the protein levels of ER and PR, clinical data like tumor type, differentiation grade, tumor size, and the nodal status as well as the age of the patients were found. There was also no significant difference in the frequency of LOH affecting the PR gene in the PROGINS carriers and non carriers, demonstrating that LOH at PR gene is not associated with the PROGINS status.	Control:106 healthy volunteers;Case:155 Austrian breast cancer patients										
132517	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Tong, D.  et al. 2002	11668524				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Austria	CDC GDPinfo	5241	Hs.368072			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):394-7	No association between the human progesterone receptor gene polymorphism PROGINS and risk for ovarian carcinoma in Austrian women		607311	13105	2	2002	The frequency of the A2/A2 genotype in patients with ovarian carcinoma was reported contradictory for various populations (0-5%). It also varied from 1.8% to 5% in healthy women. These differences might be partly due to small sample size. Thus based on these data one should be very careful in drawing any conclusin about the functional role of the PROGINS variant for ovarian cancer. Further studies with larger numbers of samples are needed.	Case:261 ovarian cancer cases, including 46 more than previously reported;Control:420 controls, including 226 more than previously:reported										
132518		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Neoplasms, Hormone-Dependent	11	11q22-q23	PGR	100414312	100506465		De Vivo, I.  et al. 2002	12218173			promoter	Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		United States	CDC GDPinfo	5241	Hs.368072			Proceedings of the National Academy of Sciences of the United States of America. 2002 Sep;99(19):12263-8	A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk.		607311	13106	2	2002	Our findings suggest that the +331G/A hPR gene polymorphism may contribute to endometrial cancer risk by increasing expression of the hPR-B isoform.	Case endometrial cancer cases nested within the Nurses' Healthy Study Cohort;Control:controls										
132512	Y	decreased risk for breast cancer by age 50	CANCER	CAN	Breast Neoplasms	7	11q22-q23	PDS	107088315	107145488		Wang-Gohrke S et al. 2000	10811106				progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926			KGB	5241	Hs.368072			Cancer research. 2000 May;60(9):2348-50	Progesterone receptor gene polymorphism is associated with decreased risk for breast cancer by age 50.		605646	4946	1	2000												
132513		Ovarian carcinoma	CANCER	CAN	Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Rowe SM et al. 1995	7796397			intron	progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			KGB	5241	Hs.368072			Cancer research. 1995 Jul;55(13):2743-5	Ovarian carcinoma-associated TaqI restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion.		607311	4947	1	1995												
132514	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Spurdle, A. B.  et al. 2001	11323389	Val660Leu G/T			Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Carcinogenesis. 2001 May;22(5):717-21	No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer.		607311	13102	2	2001	the PR exon 4 codon 660 leucine variant encoded by the T allele does not appear to be associated with ovarian tumour behaviour, histology, stage or grade. This variant is also not associated with an increased risk of ovarian cancer, and is unlikely to be associated with a large decrease in ovarian cancer risk, although we cannot rule out a moderate inverse association between the GT genotype and ovarian cancer.	Control:298 unaffected controls;Case:551 cases of epithelial ovarian cancer										
132515	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22-q23	PGR	100414312	100506465		Tong, D.  et al. 2001	11668524				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Austria	CDC GDPinfo	5241	Hs.368072			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):394-7	Analysis of the human progesterone receptor gene polymorphism progins in Austrian ovarian carcinoma patients		607311	13103	2	2001	There is no significant difference between the PROGINS allele distribution in ovarian carcinoma patients and healthy women. The PROGINS is not associated with increased risk for ovarian carcinomas	Control:194 healthy volunteers;Case:226 patients with sporadic ovarian carcinoma:Austria										
132508	Y	endometriosis.	REPRODUCTION	REP	Endometriosis	11	11q22-q23	PGR	100414312	100506465		Wieser F et al. 2002	11821088				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			KGB	5241	Hs.368072			Fertility and sterility. 2002 Feb;77(2):309-12	PROGINS receptor gene polymorphism is associated with endometriosis.		607311	4942	1	2002												
132509	Y	endometrial cancer risk.	CANCER	CAN	Endometrial Neoplasms|Neoplasms, Hormone-Dependent	11	11q22-q23	PGR	100414312	100506465		De Vivo I et al. 2002	12218173			promoter	Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		United States	KGB	5241	Hs.368072			Proceedings of the National Academy of Sciences of the United States of America. 2002 Sep;99(19):12263-8	A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk.		607311	4943	1	2002	Our findings suggest that the +331G/A hPR gene polymorphism may contribute to endometrial cancer risk by increasing expression of the hPR-B isoform.	Case endometrial cancer cases nested within the Nurses' Healthy Study Cohort;Control:controls										
132510	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		De Vivo I 2003	14500352				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			KGB	5241	Hs.368072			Cancer research. 2003 Sep;63(17):5236-8	A functional polymorphism in the progesterone receptor gene is associated with an increase in breast cancer risk.		607311	4944	1	2003	Our findings suggest that the increased production of hPR-B by the +331 G/A polymorphism may predispose women to breast cancer development through increased hPR-B-dependent stimulation of mammary cell growth.	Control:1,364 controls within the Nurses' Healthy Study cohort;Case:990 breast cancer cases within the Nurses' Health Study:cohort										
132511	N	ovarian and breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	7	11q22-q23	PDS	107088315	107145488	n	Manolitsas TP et al. 1997	9155067				progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926			KGB	5241	Hs.368072			British journal of cancer. 1997 ;75(9):1398-9	No association of a 306-bp insertion polymorphism in the progesterone receptor gene with ovarian and breast cancer.		605646	4945	1	1997												
132504		tuberculosis	INFECTION	INF		1	1p31	PGM1	63831534	63898505		Song, H. Y.  et al. 2002	12608294				Phosphoglucomutase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002633.2			CDC GDPinfo	5236	Hs.1869			Fa yi xue za zhi. 2002 Aug;18(3):152-4	[PGM1 genotyping by PCR-SSCP]		171900	18888	2	2002	 PGM1 system typed by PCR-SSCP is useful for forensic identification.	Cohort 156 unrelated Han Wuhan, China 										
132505		tuberculosis	INFECTION	INF		1	1p31	PGM1	63831534	63898505		Tarskaia, L. A.  et al. 2002	11963573				Phosphoglucomutase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002633.2			CDC GDPinfo	5236	Hs.1869			Genetika. 2002 Mar;38(3):426-9	[Genetic polymorphism of erythrocytic enzymes in Yakut populations]		171900	26493	2	2002	The allelic frequencies of the polymorphic systems	Cohort Yakut populations 										
132506		atherosclerosis, coronary; tuberculosis	CARDIOVASCULAR	CARD		1	1p31	PGM1	63831534	63898505		Evseeva IV  et al. 2001	11771313				Phosphoglucomutase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002633.2	Russian		CDC GDPinfo	5236	Hs.1869			Genetika. 2001 Nov;37(11):1571-7	[Genetic polymorphism of blood group and erythrocyte enzymes in three ethno-territorial groups of the northern European part of Russia]		171900	27168	2	2001	Three ethnic territorial groups examined were close to one another with respect to the distribution of classical biochemical markers. The interpopulation diversity was low (the mean FST = 0.015). The differences observed were for the most part caused by the genetic characteristics of Nentsy. The maximum interpopulation diversity was observed for the GLO1 locus (FST = 0.056).											
132507		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	1	1p31	PGM1	63831534	63898505			11785295				Phosphoglucomutase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002633.2			CDC GDPinfo	5236	Hs.1869			Genetika. 2001 Dec;37(12):1673-80	[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]		171900	27592	2		Based on the results obtained, a genetic control was assumed for the development of the tuberculosis process in the lungs.	Case:106 tuberculosis patients;Control:328 healthy individuals with good (group 1, N = 71) and poor (group 2, N = 35) response to treatment										
132500	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3-p21.1	PGC	41812429	41829825		Liu, H. J.  et al. 2003	12508350				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1		China	CDC GDPinfo	5225	Hs.1867			World journal of gastroenterology. 2003 Jan;9(1):50-3	Association between pepsinogen C gene polymorphism and genetic predisposition to gastric cancer.		169740	13100	2	2003	 These results suggest that there is some relation between pepsinogen C gene polymorphism and gastric cancer, and the person with homogenous allele 1 predisposes to gastric cancer than those with other genotypes. Pepsinogen C gene polymorphism may be used as a genetic marker for a genetic predisposition to gastric cancer. The distribution of pepsinogen C gene polymorphism in Zhuanghe, a high-risk area of gastric cancer, is different from that in Shenyang, a low risk area of gastric cancer.	Control:42/113 unrelated controls from a low risk area of gastric cancer (n=42) and from a high-risk area (n=113);Case:73/61 patients with gastric cancer from a low risk area of gastric cancer (n=73) and from a high-risk area and from gastric cancer kindred families (n=61) Shenyang and Zhuanghe, China										
132501	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	4	4q22.3	PGDS	95438729	95483050	P=0.0056	Noguchi E 2002	12002745	IVS2 + 11 A/C			prostaglandin D2 synthase, hematopoietic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014485.2	Japanese		KCB	27306	Hs.128433			Clinical and experimental allergy. 2002 Jan;32(1):93-6			602598	6746	1	2002	 Our results suggest that the IVS2 + 11A/C allele may be involved in the development of asthma in the Japanese population.											
132503		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p31	PGM1	63831534	63898505		Lucarelli P 1978	621091				Phosphoglucomutase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002633.2			Y Wang	5236	Hs.1869			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		171900	4941	1	2004												
132496		Tarui disease	METABOLIC	MET	Glycogen Storage Disease Type VII	12	12q13.3	PFKM	46785972	46826154		Vasconcelos O et al. 1995	7479776			intron	Phosphofructokinase, muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203			KGB	5213	Hs.75160			Proceedings of the National Academy of Sciences of the United States of America. 1995 Oct;92(22):10322-6	Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.		610681	4937	1	1995												
132497	Y	gastric body ulcer	OTHER	OTH	Peptic Ulcer|Duodenal Ulcer|Stomach Ulcer	6	6p21.3-p21.1	PGC	41812429	41829825		Azuma T et al. 1993	8098309				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1			KGB	5225	Hs.1867			Gut. 1993 Apr;34(4):450-5	Pepsinogen C gene polymorphisms associated with gastric body ulcer.		169740	4938	1	1993												
132499	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3-p21.1	PGC	41812429	41829825		Liu HJ et al. 2003	12508350				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1		China	KGB	5225	Hs.1867			World journal of gastroenterology. 2003 Jan;9(1):50-3	Association between pepsinogen C gene polymorphism and genetic predisposition to gastric cancer.		169740	4940	1	2003	 These results suggest that there is some relation between pepsinogen C gene polymorphism and gastric cancer, and the person with homogenous allele 1 predisposes to gastric cancer than those with other genotypes. Pepsinogen C gene polymorphism may be used as a genetic marker for a genetic predisposition to gastric cancer. The distribution of pepsinogen C gene polymorphism in Zhuanghe, a high-risk area of gastric cancer, is different from that in Shenyang, a low risk area of gastric cancer.	Control:42/113 unrelated controls from a low risk area of gastric cancer (n=42) and from a high-risk area (n=113);Case:73/61 patients with gastric cancer from a low risk area of gastric cancer (n=73) and from a high-risk area and from gastric cancer kindr										
132493		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	1	1p36.23	PER3	7766966	7827824		Serretti, A.  et al. 2004	15475734				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDPinfo	8863	Hs.533339			Pharmacogenetics. 2004 Sep;14(9):607-13	Pharmacogenetics of selective serotonin reuptake inhibitor response: a 6-month follow-up.		603427	23218	2	2004	 Some subjects showing remission after acute treatment relapsed within 6 months, despite undertaking a maintenance treatment; the causes could be heterogeneous, but CLOCK gene variants may influence the outcome.	Cohort 185 inpatients affected by recurrent major depression consecutively admitted to the Psychiatric Inpatient Unit of San Raffaele Hospital 1998n - 2003 	antidepressants									
132494		peroxisome-biogenesis disorder	OTHER	OTH	Zellweger Syndrome|Peroxisomal Disorders	22	22q11.21	PEX26	16940704	16952207		Matsumoto N 2003	12851857				Peroxisome biogenesis factor 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017929.3			KGB	55670	Hs.517400			American journal of human genetics. 2003 Aug;73(2):233-46	Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.		608666	6776	1	2003												
132495	N	meningococcal disease	INFECTION	INF	Meningitis, Meningococcal	X	Xp11.3-p11.23	PFC	47368572	47374648	n	Spath PJ et al. 1999	10540191				Properdin P factor, complement			Switzerland	KGB	5199	Hs.53155			Clinical and experimental immunology. 1999 Nov;118(2):278-84	Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n).		300383	4935	1	1999												
132488	Y	delayed sleep phase syndrome	NEUROLOGICAL	NEUR	Sleep Disorders, Circadian Rhythm	17	17p13.1-17p12	PER1	7984514	7996427		Ebisawa, T.  et al. 2001	11306557				Period homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			CDC GDPinfo	5187	Hs.445534			EMBO reports. 2001 Apr;2(4):342-6	Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome.		602260	13097	2	2001	Our results suggest that structural polymorphisms in the hPer3 gene may be implicated in the pathogenesis of DSPS.	Case sleep disorder patients;Control control subjects										
132489	Y	diurnal preference	OTHER	OTH	Sleep Disorders, Circadian Rhythm	2	2q37.3	PER2	238817417	238861946		Carpen, J. D.  et al. 2005	16120104				Period homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022817.1			CDC GDPinfo	8864	Hs.58756			Journal of sleep research. 2005 Sep;14(3):293-7	A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference.		603426	13098	2	2005												
132490	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	2	2q37.3	PER2	238817417	238861946		Shiino, Y.  et al. 2003	12565145				Period homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022817.1			CDC GDPinfo	8864	Hs.58756			Neuroscience letters. 2003 Feb;338(1):82-4	Mutation screening of the human period 2 gene in bipolar disorder.		603426	18887	2	2003	Polymorphism on the CKIepsilon binding region of hper2 gene which was previously reported, is unlikely to play an important role in the development of bipolar disorder.	Control:127:controls;Case:88 Japanese bipolar disorder patients										
132491	Y	delayed sleep phase syndrome.	NEUROLOGICAL	NEUR	Sleep Disorders, Circadian Rhythm	1	1p36.23	PER3	7766966	7827824		Ebisawa T et al. 2001	11306557				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			KGB	8863	Hs.533339			EMBO reports. 2001 Apr;2(4):342-6	Association of structural polymorphisms in the human period3 gene with delayed sleep phase syndrome.		603427	6602	1	2001												
132484		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	17	17q23	PECAM1	59753594	59817743		Rocha, V.  et al. 2002	12393699				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		173445	28183	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
132485		liver disease, nonalcoholic fatty	OTHER	OTH	Fatty Liver|Genetic Predisposition to Disease	17	17p11.2	PEMT	17349601	17435719		Song, J.  et al. 2005	16051693				Phosphatidylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148172.1			CDC GDPinfo	10400	Hs.287717			The FASEB journal. 2005 Aug;19(10):1266-71	Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD).		602391	13096	2	2005												
132486		bipolar disorder	PSYCH	PSY	Bipolar Disorder	8	8q23-q24	PENK	57516069	57521703		Alda M et al. 2000	10893493				Proenkephalin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006211.2			KGB	5179	Hs.339831			American journal of medical genetics. 2000 Apr;96(2):178-81	Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLI study.		131330	4933	1	2000												
132487	N	diurnal preference	OTHER	OTH		17	17p13.1-17p12	PER1	7984514	7996427	n	Katzenberg D et al. 1999	10412192				period homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			KGB	5187	Hs.445534			Psychiatric genetics. 1999 Jun;9(2):107-9	A human period gene (HPER1) polymorphism is not associated with diurnal preference in normal adults.		602260	4934	1	1999												
132481		retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Hypercholesterolemia	17	17q23	PECAM1	59753594	59817743		Kamiuchi, K.  et al. 2002	12027924				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Diabetic medicine. 2002 May;19(5):371-6	Intercellular adhesion molecule-1 (ICAM-1) polymorphism is associated with diabetic retinopathy in Type 2 diabetes mellitus.		173445	23217	2	2002	 These data suggest that the ICAM-1 469KK genotype could be a genetic risk factor for retinopathy in Type 2 diabetes mellitus.	Control:50 diabetic patients without nephropathy;Case:81 diabetic patients with nephropathy										
132482		malaria	INFECTION	INF	Malaria, Falciparum	17	17q23	PECAM1	59753594	59817743		Amodu, O. K.  et al. 2005	16002039				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2		Nigeria	CDC GDPinfo	5175	Hs.514412			Acta tropica. 2005 Sep;95(3):248-55	Plasmodium falciparum malaria in south-west Nigerian children: is the polymorphism of ICAM-1and E-selectin genes contributing to the clinical severity of malaria?		173445	25413	2	2005												
132483		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q23	PECAM1	59753594	59817743		Nelissen, I.  et al. 2002	12127674				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Swedish	Belgium	CDC GDPinfo	5175	Hs.514412			Journal of the neurological sciences. 2002 Aug;200(2-Jan):43-8	Gelatinase B, PECAM-1 and MCP-3 gene polymorphisms in Belgian multiple sclerosis.		173445	25414	2	2002	These results are in agreement with previous findings in the Swedish and Sardinian populations and reinforce the possibility of a role for chemokines in MS pathogenesis.	Control:193 normal controls;Case:216 Belgian clinically definite MS patients										
132478		bone marrow transplantation	IMMUNE	IMM	Graft vs Host Disease	17	17q23	PECAM1	59753594	59817743		Cavanagh, G.  et al. 2005	15753851				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Transplantation. 2005 Mar;79(5):602-5	Donor CD31 genotype impacts on transplant complications after human leukocyte antigen-matched sibling allogeneic bone marrow transplantation.		173445	18884	2	2005	Assessment for CD31 gene status may be of value in pretransplant assessment of bone marrow transplant recipients and donors for prediction of likely transplant-related complications.	Cohort 74 patients and their human leukocyte antigen-matched sibling donors 										
132479		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Graft vs Host Disease|Acute Disease	17	17q23	PECAM1	59753594	59817743		Goodman, R. S.  et al. 2005	15908974				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Bone marrow transplantation. 2005 Jul;36(2):151-6	Donor CD31 genotype and its association with acute graft-versus-host disease in HLA identical sibling stem cell transplantation.		173445	18885	2	2005	We suggest that CD31 genotype may influence the function of donor-derived leukocytes and may be informative when there is a choice of comparable donors.	Cohort 85 cases of HLA identical sibling HST from two transplant centres 										
132480		coronary heart disease, transplant associated	CARDIOVASCULAR	CARD	Coronary Disease|Disease Susceptibility	17	17q23	PECAM1	59753594	59817743		Borozdenkova, S.  et al. 2001	11250042				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Human immunology. 2001 Mar;62(3):247-55	Identification of ICAM-1 polymorphism that is associated with protection from transplant associated vasculopathy after cardiac transplantation.		173445	23216	2	2001	No association was found between E-selectin, L-selectin, and PECAM allele or genotype frequencies and TxCAD. Our data suggest the presence of allele E469 ICAM-1 in either donor or recipient is protective against allograft rejection in a transplant setting.	Control:101 UK transplant donors;Case:82 cardiac transplant patients Harefield Hosptial:1987-1995;Case:96 cadaveric donors										
132475	Y	coronary artery stenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Arteriosclerosis|Genetic Predisposition to Disease|Inflammation	17	17q23	PECAM1	59753594	59817743		Wei, H.  et al. 2004	15589815				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Chinese	Singapore	CDC GDPinfo	5175	Hs.514412			Clinical biochemistry. 2004 Dec;37(12):1091-7	Platelet-endothelial cell adhesion molecule-1 gene polymorphism and its soluble level are associated with severe coronary artery stenosis in Chinese Singaporean.		173445	13094	2	2004	 The Leu125Val polymorphism of PECAM-1 and the level of sPECAM-1 are associated with CAD in Chinese in Singapore. The level of sPECAM-1 is also associated with platelet activation and inflammation and correlated to the Leu125Val polymorphism. Our data suggest that PECAM-1 plays an important role in the development of atherosclerosis.	Case:144 angiographically documented (>/=70% stenosis) Chinese patients with CAD:Singapore;Control:150 age- and sex-matched controls										
132476	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23	PECAM1	59753594	59817743		Fang, L.  et al. 2005	15756041	Leu125Val			Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Indian	India	CDC GDPinfo	5175	Hs.514412			The Indian journal of medical research. 2005 Feb;121(2):92-9	Association of Leu125Val polymorphism of platelet endothelial cell adhesion molecule-1 (PECAM-1) gene & soluble level of PECAM-1 with coronary artery disease in Asian Indians.		173445	13095	2	2005	 Our study showed that Leu125Val polymorphism of PECAM-1 gene and elevated soluble PECAM-1 were related to severe coronary artery stenosis in CAD patients of Asian Indian origin in Singapore. Our data also suggest that PECAM-1 plays an important role in the development of atherosclerosis.	Control:110 Asian Indian conrols;Case:137 angiographically confirmed coronary artery disease:patients:Singapore										
132477	N	Malaria infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	17	17q23	PECAM1	59753594	59817743		Casals-Pascual, C.  et al. 2001	11791967				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2		Kenya|New Guinea	CDC GDPinfo	5175	Hs.514412			The American journal of tropical medicine and hygiene. 2001 Dec;65(6):736-7	Short report: codon 125 polymorphism of CD31 andsusceptibility to malaria.		173445	18883	2	2001	We conclude that  the presence of CTG-->GTG (Leu-->Val) substitution in codon 125 in CD31 is not associated with protection from severe malaria, and we suggest that selective forces other than malaria may maintain this high-frequency polymorphism.	Case Papua New Guinea, Kilifi Distric, Kenya;Control										
132472	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	17	17q23	PECAM1	59753594	59817743		Song, F. C.  et al. 2003	12581968				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Di yi jun yi da xue xue bao. 2003 Feb;23(2):156-8	Association of platelet endothelial cell adhesion molecule-1 gene polymorphism with coronary heart disease		173445	13091	2	2003	 PECAM-1 gene polymorphism 1 may be a genetic risk factor for coronary heart disease.	Case:156 patients with the diagnoses of coronary heart:disease;Control:75 in-patients admitted within the same period who showed no signs of CHD										
132473	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q23	PECAM1	59753594	59817743		Listi, F.  et al. 2004	15265022				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2		Sicily	CDC GDPinfo	5175	Hs.514412			European journal of immunogenetics. 2004 Aug;31(4):175-8	Association between platelet endothelial cellular adhesion molecule 1 (PECAM-1/CD31) polymorphisms and acute myocardial infarction: a study inpatients from Sicily.		173445	13092	2	2004	All in all, we believe that the results of the present study would add support to the role of pro/anti-inflammatory genotypes in determining susceptibility or resistance to immune-inflammatory diseases, including atherosclerosis.	Control:118 healthy male controls (mean age 38 years, age;Case:96 male patients (mean age 40 years; age range 20-46) affected by acute myocardial infarction:Sicily, Italy										
132474	Y	atherosclerosis, coronary; myocardial dysfunction, non-ischaemic	CARDIOVASCULAR	CARD	Coronary Disease|Disease Progression	17	17q23	PECAM1	59753594	59817743		Elrayess, M. A.  et al. 2004	15488875	R643G			Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDPinfo	5175	Hs.514412			Atherosclerosis. 2004 Nov;177(1):127-35	R643G polymorphism in PECAM-1 influences transendothelial migration of monocytes and is associated with progression of CHD and CHD events.		173445	13093	2	2004	These data confirm the association of the R643G polymorphism with MI and CAS and suggest that greater influx of monocytes in individuals homozygous for the 643G may explain the association with CAS.	Cohort 2,037 men from the second Northwick Park Heart study (138 with CHD events) Cohort 279 men from the Lopid Coronary Angiography Trial 	smoking (tobacco)									
132469	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	PECAM1	59753594	59817743		Wenzel K et al. 1999	10571959				platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			KGB	5175	Hs.514412			Human mutation. 1999 Dec;14(6):545	The homozygous combination of Leu125Val and Ser563Asn polymorphisms in the PECAM1 (CD31) gene is associated with early severe coronary heart disease.		173445	4932	1	1999												
132470	Y	malaria, cerebral	IMMUNE	IMM	Malaria, Cerebral|Genetic Predisposition to Disease	17	17q23	PECAM1	59753594	59817743		Kikuchi, M.  et al. 2001	11719109				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Thai	Thailand	CDC GDPinfo	5175	Hs.514412			Parasitology international. 2001 Nov;50(4):235-9	Association of adhesion molecule PECAM-1/CD31 polymorphism with susceptibility to cerebral malaria in Thais		173445	13087	2	2001	We found that the frequency of the 125 V/V 563 N/N genotype was significantly high in CM patients as compared with severe cases without CM (P<0.01, OR=2.92), suggesting that this genotype is one of the risk factors for CM.	Cohort 210 Thai malaria patients (43 cerebral, 89 severe and 78 uncomplicated) 										
132471	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction	17	17q23	PECAM1	59753594	59817743		Sasaoka, T.  et al. 2001	11795274				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Japanese	Japan	CDC GDPinfo	5175	Hs.514412			Annals of the New York Academy of Sciences. 2001 Dec;947:259-69; discussion 269-70	Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese.		173445	13088	2	2001	These observations suggest that the 563Ser/Ser genotype and 670Arg/Arg genotype of PECAM-1 are novel genetic risk factors of myocardial infarction in Japanese. Stratification analysis of the patients showed that the associations of these PECAM-1 genotypes with myocardial infarction were preferentially found in male and younger patients (age of onset of myocardial infarction less than 60 years). In addition, the associations were stronger in patients with three-vessel disease than in the others and appeared independent of conventional risk factors including smoking, hypertension, diabetes mellitus, hyperlipidemia, and obesity.	Case:136 patients with myocardial infarction:Japan;Control:235 healthy controls	smoking (tobacco)									
132466		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q23	PECAM1	59753594	59817743		Sciacca FL et al. 2000	10713357				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			KGB	5175	Hs.514412			Journal of neuroimmunology. 2000 May;104(2):174-8	Association study of a new polymorphism in the PECAM-1 gene in multiple sclerosis.		173445	4929	1	2000	We conclude that  although potentially able to affect organ-specific autoimmune diseases, this new PECAM-1 polymorphism, does not seem to contribute to the genetic background of MS.											
132467	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction	17	17q23	PECAM1	59753594	59817743		Sasaoka T et al. 2001	11795274				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Japanese	Japan	KGB	5175	Hs.514412			Annals of the New York Academy of Sciences. 2001 Dec;947:259-69; discussion 269-70	Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene Asn563Ser and Gly670Arg associated with myocardial infarction in the Japanese.		173445	4930	1	2001	These observations suggest that the 563Ser/Ser genotype and 670Arg/Arg genotype of PECAM-1 are novel genetic risk factors of myocardial infarction in Japanese. Stratification analysis of the patients showed that the associations of these PECAM-1 genotypes with myocardial infarction were preferentially found in male and younger patients (age of onset of myocardial infarction less than 60 years). In addition, the associations were stronger in patients with three-vessel disease than in the others and appeared independent of conventional risk factors including smoking, hypertension, diabetes mellitus, hyperlipidemia, and obesity.	Case:136 patients with myocardial infarction:Japan;Control:235 healthy controls	smoking (tobacco)									
132468	Y	cerebral malaria	IMMUNE	IMM	Malaria, Cerebral|Genetic Predisposition to Disease	17	17q23	PECAM1	59753594	59817743	P<0.01	M. Kikuchi 2001	11719109	the 125 V/V 563 N/N			platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2		Thailand	KGB	5175	Hs.514412			Parasitology international. 2001 Nov;50(4):235-9			173445	4931	1	2001												
132461	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	20	20pter-p12	PDYN	1907401	1922702		Zhang, C. S.  et al. 2004	15301734			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2	Chinese		CDC GDPinfo	5173	Hs.22584			Acta pharmacologica Sinica. 2004 Aug;25(8):1022-6	Polymorphism of Prodynorphin promoter is associated with schizophrenia in Chinese population.		131340	13083	2	2004	 PDYN-946C>G polymorphism demonstrated an association with population susceptibility to schizophrenia.	Control:controls;Case Chinese Han schizophrenic cases										
132462	Y	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	20	20pter-p12	PDYN	1907401	1922702		Dahl, J. P.  et al. 2005	16184603			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDPinfo	5173	Hs.22584			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):106-8	Confirmation of the association between a polymorphism in the promoter region of the prodynorphin gene and cocaine dependence.		131340	13084	2	2005												
132463		opioid dependence	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	20	20pter-p12	PDYN	1907401	1922702			16314761			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDPinfo	5173	Hs.22584			Psychiatric genetics. 2005 Dec;15(4):295-8	A functional prodynorphin promoter polymorphism and opioid dependence		131340	13085	2	2005	 These data suggest that the PDYN repeat polymorphism should be studied in additional opioid-dependent populations.											
132464		schizophrenia	PSYCH	PSY	Schizophrenia	20	20pter-p12	PDYN	1907401	1922702		Ventriglia, M.  et al. 2002	12207142			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDPinfo	5173	Hs.22584			Neuropsychobiology. 2002 ;46(1):17-21	Allelic variation in the human prodynorphin gene promoter and schizophrenia.		131340	18882	2	2002	We conclude that  PDYN gene polymorphism alone does not alter the risk for schizophrenia but, by an epistatic interaction with the Gly allele of DRD3 gene, may contribute to the susceptibility to this disorder.	Case schizophrenic patients;Control control subjects										
132458	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	20	20pter-p12	PDYN	1907401	1922702		Stogmann E et al. 2002	11835385				Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			KGB	5173	Hs.22584			Annals of neurology. 2002 Feb;51(2):260-3	A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy.		131340	4928	1	2002	PDYN promotor low-expression L-alleles confer an increased risk for temporal lobe epilepsy in patients with a family history for seizures. Irrespective of the familial background, L-homozygotes display a higher risk for secondarily generalized seizures and status epilepticus.	Case:155 patients with nonlesional temporal lobe epilepsy;Control:202 controls not otherwise specified	family history									
132459	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	20	20pter-p12	PDYN	1907401	1922702		Stogmann, E.  et al. 2002	11835385				Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDPinfo	5173	Hs.22584			Annals of neurology. 2002 Feb;51(2):260-3	A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy.		131340	13081	2	2002	PDYN promotor low-expression L-alleles confer an increased risk for temporal lobe epilepsy in patients with a family history for seizures. Irrespective of the familial background, L-homozygotes display a higher risk for secondarily generalized seizures and status epilepticus.	Case:155 patients with nonlesional temporal lobe epilepsy;Control:202 controls not otherwise specified	family history									
132460	Y	cocaine dependence/abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	20	20pter-p12	PDYN	1907401	1922702		Chen, A. C.  et al. 2002	11992566			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDPinfo	5173	Hs.22584			American journal of medical genetics. 2002 May;114(4):429-35	Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse.		131340	13082	2	2002	Our results suggest that this allelic variation at the promoter region of the prodynorphin gene (alleles with three or four repeats), which may result in enhanced transcription of the gene, may contribute to relative protection and decrease individual vulnerability to develop cocaine dependence or abuse.	Case:61/22 individuals with a primary diagnosis (DSM-IV criteria) of cocaine dependence (N = 61) or abuse:(N = 22);Control:91 controls with no history of any substance dependence or abuse										
132454	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	5	5q31.1	RIL	131621285	131637046		Omasu, F.  et al. 2003	12908099				PDZ and LIM domain 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003687	Japanese	China|Japan	CDC GDPinfo	8572	Hs.424312			Journal of human genetics. 2003 ;48(7):342-5	Association of genetic variation of the RIL gene, encoding a PDZ-LIM domain protein and localized in 5q31.1, with low bone mineral density in adult Japanese women.		603422	19274	2	2003	The variation of the RIL locus may be an important determinant of osteoporosis.	Cohort 370 adult Japanese women 										
132455	Y	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q22	PDLIM5	95592060	95808400		Horiuchi, Y.  et al. 2005	16213469				PDZ and LIM domain 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001011513.1			CDC GDPinfo	10611	Hs.480311			Biological psychiatry. 2005	A Polymorphism in the PDLIM5 Gene Associated with Gene Expression and Schizophrenia.			13080	2	2005	 These results suggest that PDLIM5 might play a role in genetic susceptibility to schizophrenia.											
132457	Y	cocaine dependence or abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	20	20pter-p12	PDYN	1907401	1922702		Chen AC et al. 2002	11992566			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			KGB	5173	Hs.22584			American journal of medical genetics. 2002 May;114(4):429-35	Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse.		131340	4927	1	2002	Our results suggest that this allelic variation at the promoter region of the prodynorphin gene (alleles with three or four repeats), which may result in enhanced transcription of the gene, may contribute to relative protection and decrease individual vulnerability to develop cocaine dependence or abuse.	Case:61/22 individuals with a primary diagnosis (DSM-IV criteria) of cocaine dependence (N = 61) or abuse:(N = 22);Control:91 controls with no history of any substance dependence or abuse										
132451	N	tyrosine kinase inhibitor pharmacokinetics	UNKNOWN	UNK	Subdural Effusion|Edema	5	5q31-q32	PDGFRB	149472996	149515615		Bruck, P.  et al. 2004	15380338				Platelet-derived growth factor receptor, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002609.3			CDC GDPinfo	5159	Hs.509067			Leukemia research. 2004 Nov;28(11):1153-7	Development of hygromas or severe edema during treatment with the tyrosine kinase inhibitor STI571 is not associated with platelet-derived growth factor receptor (PDGFR) gene polymorphisms.		173410	23214	2	2004	By RFLP analysis of 15 SNPs, the frequencies of genotypes did not differ between the three groups. SNPs of PDGFR genes do not appear to play a role in patient's susceptibility to clinically severe edema formation during treatment with STI571.	Case STI571-treated patients with and without life-threatening edema or cerebral hygromas;Control healthy volunteers										
132452	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	11p13	PDX1	27392156	27397394		Elbein, S. C.  et al. 2004	15277425				Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123		United States|Europe	CDC GDPinfo	8050	Hs.502315			Diabetes care. 2004 Aug;27(8):1968-73	Does the Aspartic Acid to Asparagine Substitution at Position 76 in the Pancreas Duodenum Homeobox Gene (PDX1) Cause Late-Onset Type 2 Diabetes?		245349	18881	2	2004	 The D76N variant of PDX1 does not significantly alter insulin secretion or act as a high-risk susceptibility allele for late-onset type 2 diabetes as proposed previously, although we cannot exclude a minor role in increasing risk of diabetes.	Case:190 individuals with type 2 diabetes;Control:191 control subjects										
132453		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3-q22.1	PDK4	95050744	95063861		Che, D.  et al. 2002	15776585				Pyruvate dehydrogenase kinase, isoenzyme 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002612.3	Senegalese		CDC GDPinfo	5166	Hs.8364			Dakar Med. 2002 ;47(1):18-21	[Genetic polymorphism of pyruvate dehydrogenase kinase 4 (PDK4), paraoxonase 2 (PON2), and fatty acid binding protein 2 (FABP2) in the NIDDM population of Senegal]		602527	23215	2	2002	These results suggest that none of these gene variants is a major NIDDM predisposing locus for the negroid population of Senegal.	Case black subjects with non-insulin dependent diabetes:mellitus:Dakar, Senegal;Control subjects without diabetes										
132448	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism|Genetic Predisposition to Disease	4	4q11-q13	PDGFRA	53938619	54859169		Joosten, P. H.  et al. 2001	11175793			promoter	Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDPinfo	5156	Hs.74615			Nature genetics. 2001 Feb;27(2):215-7	Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects.		173490	18877	2	2001	Our data indicate that specific combinations of naturally occurring PDGFRA promoter haplotypes strongly affect NTD genesis.	Case groups of patients with both sporadic and familial spina bifida;Control unrelated controls										
132449		neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele	4	4q11-q13	PDGFRA	53938619	54859169		Au, K. S.  et al. 2005	16283668				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDPinfo	5156	Hs.74615			American journal of medical genetics Part A. 2005 Dec;139(3):194-8	Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele.		173490	18879	2	2005												
132450		gastrointestinal cancer	CANCER	CAN	Gastrointestinal Stromal Tumors	4	4q11-q13	PDGFRA	53938619	54859169		Martin, J.  et al. 2005	16135486				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDPinfo	5156	Hs.74615			Journal of clinical oncology. 2005 Sep;23(25):6190-8	Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for SarcomaResearch (GEIS).		173490	23213	2	2005	 Deletions affecting codons 557 to 558 are relevant for the prognosis of RFS in GIST patients. This critical genetic alteration should be considered to be a new prognostic stratification variable for randomized trials exploring imatinib mesylate in the adjuvant setting in GIST patients.											
132445		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	22	22q12.3-q13.1	PDGFB	37949634	37970936		Zhou X et al. 2000	10817561				Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002608.1			KGB	5155	Hs.1976			Arthritis and rheumatism. 2000 May;43(5):1068-73	Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet-derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary analysis showing no genetic association.		190040	4917	1	2000	 The results of these preliminary analyses suggest that genetic anomalies of the TGFbeta1 and PDGF gene families are not likely to explain the dysregulation seen in SSc or to account for the susceptibility to SSc in this population.											
132446		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	22	22q12.3-q13.1	PDGFB	37949634	37970936		Zhou X et al. 2000	10817561				Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002608.1			KGB	5155	Hs.1976			Arthritis and rheumatism. 2000 May;43(5):1068-73	Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet-derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary analysis showing no genetic association.		190040	4918	1	2000	 The results of these preliminary analyses suggest that genetic anomalies of the TGFbeta1 and PDGF gene families are not likely to explain the dysregulation seen in SSc or to account for the susceptibility to SSc in this population.											
132447	N	tyrosine kinase inhibitor pharmacokinetics	UNKNOWN	UNK	Subdural Effusion|Edema	4	4q11-q13	PDGFRA	53938619	54859169		Bruck, P.  et al. 2004	15380338				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDPinfo	5156	Hs.74615			Leukemia research. 2004 Nov;28(11):1153-7	Development of hygromas or severe edema during treatment with the tyrosine kinase inhibitor STI571 is not associated with platelet-derived growth factor receptor (PDGFR) gene polymorphisms.		173490	13078	2	2004	By RFLP analysis of 15 SNPs, the frequencies of genotypes did not differ between the three groups. SNPs of PDGFR genes do not appear to play a role in patient's susceptibility to clinically severe edema formation during treatment with STI571.	Case STI571-treated patients with and without life-threatening edema or cerebral hygromas;Control healthy volunteers										
132442		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	4	4p16.3	PDE6B	609372	654571		Rakoczy, P.  et al. 1995	11980072				Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000283.2	Australian	Western Australia	CDC GDPinfo	5158	Hs.59872			Australian and New Zealand journal of ophthalmology. 1995 Nov;23(4):273-9	A preliminary report on a DNA-based screening method for retinitis pigmentosa. A trial on a west Australian population		180072	19270	2	1995	 In this study we have demonstrated that SSCP in combination with DNA sequencing is a powerful tool to identify new mutations and to provide information for a 'mutational panel' for future screening.	Case:27 patients with retinitis pigmentosa;Control:50 randomly selected controls										
132443	N	Asthma	IMMUNE	IMM	Asthma	7	7p22	PDGFA	503422	526007	n	Baron R 2001	11678848				Platelet-derived growth factor alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002607	U.S. Caucasian. African American		KCB	5154	Hs.376032			Clinical and experimental allergy. 2001 Oct;31(10)	DNA sequence variants of the platelet-derived growth factor A-chain gene.		173430	8109	1	2001	 No association was found between the sequence variants in the PDGF-A gene and the development of asthma. However, the allele frequency of some of the sequence variants differed between the Caucasian and African-American subjects.	Case asthmatic subjects;Control normal subjects										
132444	N	asthma	IMMUNE	IMM	Asthma	7	7p22	PDGFA	503422	526007		Baron, R.  et al. 2001	11678848				Platelet-derived growth factor alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002607.4	African American		CDC GDPinfo	5154	Hs.535898			Clinical and experimental allergy. 2001 Oct;31(10):1501-8	DNA sequence variants of the platelet-derived growth factor A-chain gene.		173430	18876	2	2001	 No association was found between the sequence variants in the PDGF-A gene and the development of asthma. However, the allele frequency of some of the sequence variants differed between the Caucasian and African-American subjects.	Case asthmatic subjects;Control normal subjects										
132439	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemia	5	5q12	PDE4D	58301611	59819647		Lohmussaar, E.  et al. 2005	15731479				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3		Europe, Eastern|Iceland	CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2005 Apr;36(4):731-6	ALOX5AP gene and the PDE4D gene in a central European population of stroke patients.		600129	23212	2	2005	 The present study suggests that sequence variants in the ALOX5AP gene are significantly associated with stroke, particularly in males. Variants in the PDE4D gene are not a major risk factor for stroke in individuals from central Europe. Population differences in allele and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.	Case:639 consecutive stroke patients central Europe;Control:736 unrelated population-based controls matched for age and sex										
132440	Y	retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	4	4p16.3	PDE6B	609372	654571		Cui, Y.  et al. 2003	12760810				Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000283.2	Chinese	China	CDC GDPinfo	5158	Hs.59872			Chinese journal of ophthalmology. 2003 Jan;39(1):28-32	[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa]		180072	18874	2	2003	 There are novel complex heterozygous mutations of PDE6B gene responsible for a sporadic RP patient in China. This gene mutation associated with rod deterioration and RP. Several DNA variants were found in introns of PDE6B gene in national population.	Cohort 35/55 autosomal recessive (n=35) and sporadic (n=55) retinitis pegmentosa cases China 										
132441	Y	retinitis pigmentosa	UNKNOWN	UNK		4	4p16.3	PDE6B	609372	654571		Cui, Y.  et al. 2003	12778443				Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000283.2	Chinese		CDC GDPinfo	5158	Hs.59872			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):200-2	[Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients]		180072	18875	2	2003	 There is a complex heterozygous mutation of PDE6B gene responsible for a sporadic RP patient in China. Several DNA variants were found in intron of PDE6B gene in the national population.	Cohort 38/55 patients from 35 autosomal recessive retinitis pigmentosa (ARRP) families (n=38) and sporadic cases (n=55) China 										
132435		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemia|Diabetes Complications|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Nilsson-Ardnor, S.  et al. 2005	16020760				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Swedish	Iceland|Sweden	CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2005 Aug;36(8):1666-71	Linkage of ischemic stroke to the PDE4D region on 5q in a Swedish population.		600129	18870	2	2005	 Using a candidate region approach in a set of stroke families from northern Sweden, we have replicated linkage of stroke susceptibility to the PDE4D gene region on chromosome 5q. Association studies in an independent nested case-control sample from the same geographically located population suggested that different alleles confer susceptibility/protection to stroke in the Icelandic and the northern Swedish populations.											
132437		brain infarction	CARDIOVASCULAR	CARD	Cerebral Infarction|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647			16322495				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Japanese		CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2006 Jan;37(1):69-76	Genotype and Haplotype Association Study of the STRK1 Region on 5q12 Among Japanese. A Case-Control Study		600129	18872	2	2005	 The region of the PDE4D gene and the other newly detected region within the STRK1 locus were associated with cerebral infarction.											
132438		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemic Attack, Transient|Ischemia	5	5q12	PDE4D	58301611	59819647			16373644				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3			CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2006 Feb;37(2):371-6	Association of Phosphodiesterase 4D With Ischemic Stroke. A Population-Based Case-Control Study		600129	18873	2	2005	 PDE4D is a risk factor for ischemic stroke and, in particular, for cardioembolic stroke, among whites and blacks. Further study of this gene is warranted.											
132432	Y	Stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647	0.00025	Gretarsdottir S 2003	14517540		The disease-associated haplotype extends over the 5' exon unique to the new PDE4D7 variant and the presumed promoter region of this isoform suggesting that the functional variation may be involved in transcriptional regulation. This hypothesis is also sup	5'promoter	Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Icelandic		KGB	5144	Hs.591763			Nature genetics. 2003 Oct;35(2):131-8			600129	4916	1	2003		Case:864; Control:908										
132433	Y	bone density	METABOLIC	MET		5	5q12	PDE4D	58301611	59819647		Reneland, R. H.  et al. 2005	15752431				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3			CDC GDPinfo	5144	Hs.591763			BMC medical genetics [electronic resource]. 2005 Mar;6:9	Association between a variation in the phosphodiesterase 4D gene and bone mineral density.		600129	18868	2	2005	 This study indicates that variants in the gene encoding PDE4D account for some of the genetic contribution to bone mineral density variation in humans. The contrasting results from different samples indicate that the effect may be context-dependent. PDE4 inhibitors have been shown to increase bone mass in normal and osteopenic mice, but up until now there have been no reports implicating any member of the PDE4 gene family in human osteoporosis.	Cohort DNA pools from white females selected for low (<0.87 g/cm2, n=319) and high (> 1.11 g/cm2, n=321) BMD at the lumbar spine 										
132434		stroke, ischemic; atherosclerosis, carotid	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Cerebrovascular Accident|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Bevan, S.  et al. 2005	15802632				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3			CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2005 May;36(5):949-53	Phosphodiesterase 4D gene, ischemic stroke, and asymptomatic carotid atherosclerosis.		600129	18869	2	2005	 The PDE4D gene is not a major risk factor for ischemic stroke, or early atherosclerosis, within the 2 European population samples studied. On analysis of individual stroke subtypes, there is a possible association with cardioembolic stroke, but the lack of association with carotid IMT and plaque would suggest that this is via a mechanism other than accelerated atherosclerosis.											
132429		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Disease Susceptibility	11	11p15.1	PDE3B	14621906	14848926		Osawa H 2003	12765845				Phosphodiesterase 3B, cGMP-inhibited	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000922.2	Japanese	Japan	Y Wang	5140	Hs.445711			Molecular genetics and metabolism. 2003 May;79(1):43-51	Systematic search for single nucleotide polymorphisms in the 5' flanking region of the human phosphodiesterase 3B gene: absence of evidence for major effects of identified polymorphisms on susceptibility to Japanese type 2 diabetes.		602047	4915	1	2003	Thus, the identified polymorphisms are unlikely to have major effects on susceptibility to Japanese type 2 diabetes.	Case:98 Japanese type 2 diabetic subjects;Control:98:controls										
132430		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Disease Susceptibility	11	11p15.1	PDE3B	14621906	14848926		Osawa, H.  et al. 2003	12765845				Phosphodiesterase 3B, cGMP-inhibited	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000922.2	Japanese	Japan	CDC GDPinfo	5140	Hs.445711			Molecular genetics and metabolism. 2003 May;79(1):43-51	Systematic search for single nucleotide polymorphisms in the 5(') flanking region of the human phosphodiesterase 3B gene: absence ofevidence for major effects of identified polymorphisms on susceptibility to Japanese type 2 diabetes		602047	13077	2	2003	Thus, the identified polymorphisms are unlikely to have major effects on susceptibility to Japanese type 2 diabetes.	Case:98 Japanese type 2 diabetic subjects;Control:98:controls										
132431	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Diabetes Mellitus, Lipoatrophic	11	11p15.1	PDE3B	14621906	14848926		Sano, R.  et al. 2001	11640991				Phosphodiesterase 3B, cGMP-inhibited	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000922.2	Japanese	Japan	CDC GDPinfo	5140	Hs.445711			Diabetes research and clinical practice. 2001 Nov;54(2):79-88	Analysis of the insulin-sensitive phosphodiesterase 3B gene in type 2 diabetes.		602047	18866	2	2001	In conclusion, alterations in the PDE3B gene are unlikely to contribute importantly to the pathogenesis of type 2 diabetes mellitus or lipoatrophic diabetes mellitus in Japan.	Case:100 100 subjects with type 2 diabetes mellitus, 5 lipoatrophic diabetic patients;Control:50 control subjects not otherwise specified in:abstract										
132425		rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	IMMUNE	IMM	Autoimmune Diseases|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Mori, M.  et al. 2005	15883854				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	5133	Hs.158297			Journal of human genetics. 2005 ;50(5):264-6	Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.		600244	23211	2	2005	Our data suggest that ethnic variations of polymorphisms should be evaluated in detail, and differences should be incorporated into investigations of susceptibility variants for common diseases.	Cohort individuals from Caucasian, African-descent, and Japanese populations. 										
132427		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q27	PDCD2	170728374	170735673		Chistiakov, D. A.  et al. 2005	15848047				Programmed cell death 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002598.2	Russian	Russia	CDC GDPinfo	5134	Hs.367900			Journal of autoimmunity. 2005 May;24(3):243-50	Evaluation of IDDM8 susceptibility locus in a Russian simplex family data set.		600866	19124	2	2005												
132428	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Diabetes Mellitus, Lipoatrophic	11	11p15.1	PDE3B	14621906	14848926		Sano R 2001	11640991				Phosphodiesterase 3B, cGMP-inhibited	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000922.2	Japanese	Japan	Y Wang	5140	Hs.445711			Diabetes research and clinical practice. 2001 Nov;54(2):79-88	Analysis of the insulin-sensitive phosphodiesterase 3B gene in type 2 diabetes.		602047	4914	1	2001	In conclusion, alterations in the PDE3B gene are unlikely to contribute importantly to the pathogenesis of type 2 diabetes mellitus or lipoatrophic diabetes mellitus in Japan.	Case:100 100 subjects with type 2 diabetes mellitus, 5 lipoatrophic diabetic patients;Control:50 control subjects not otherwise specified in:abstract										
132421	Y	lupus erythematosus	IMMUNE	IMM	Kidney Diseases|Lupus Erythematosus, Systemic	2	2q37.3	PDCD1	242440710	242449731		Johansson, M.  et al. 2005	15934088				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Swedish	Sweden	CDC GDPinfo	5133	Hs.158297			Arthritis and rheumatism. 2005 Jun;52(6):1665-9	Association of a PDCD1 polymorphism with renal manifestations in systemic lupus erythematosus.		600244	13076	2	2005	 The PD-1.3A allele is associated with renal manifestations in SLE patients from northern Sweden but not with susceptibility to SLE per se.	Case:260 patients with systemic lupus erythematosus northern Sweden;Control:670 population-based, randomly selected individuals										
132422	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Ferreiros-Vidal, I.  et al. 2004	15334473				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1		Spain	CDC GDPinfo	5133	Hs.158297			Arthritis and rheumatism. 2004 Aug;50(8):2590-7	Association of PDCD1 with susceptibility to systemic lupus erythematosus		600244	18863	2	2004	 Our results confirm the association of PDCD1 with susceptibility to SLE, but the findings show a lack of involvement of the PD1.3 SNP, which is contrary to the role of the PD1.3 A allele observed previously. These contradictory results probably reflect population differences in the haplotype structure of the PDCD1 locus. More research focusing on new polymorphisms and identifying associations in other populations will be needed to clarify the role of PDCD1 in SLE susceptibility.	Case:518 systemic lupus erythematosus patients:Spain;Control:800 healthy control subjects										
132424		inflammatory disease	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease|Inflammation	2	2q37.3	PDCD1	242440710	242449731		James, E. S.  et al. 2005	15959535				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	5133	Hs.158297			Genes and immunity. 2005 Aug;6(5):430-7	PDCD1: a tissue-specific susceptibility locus forinherited inflammatory disorders.		600244	18865	2	2005												
132418	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Prokunina, L.  et al. 2004	15188352				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1		Sweden	CDC GDPinfo	5133	Hs.158297			Arthritis and rheumatism. 2004 Jun;50(6):1770-3	Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope.		600244	13073	2	2004	 Patients negative for both RF and the SE alleles showed association with the same allele that we previously identified as being involved in susceptibility to SLE. These results provide the first evidence of the involvement of the human PDCD1 gene in arthritis.	Case:1,175 patients with rheumatoid arthritis;Control:3,404:controls										
132419	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Sanghera, D. K.  et al. 2004	15322919			intron	Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	5133	Hs.158297			Human genetics. 2004 Oct;115(5):393-8	Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies.		600244	13074	2	2004	Our data indicate polymorphism in intron 4 of the PDCD1 gene affects the occurrence of APA and may slightly modify the risk of sporadic SLE.	Case:311 sporadic systemic lupus erythematosus patients (276 European Americans and 35 African Americans);Control:390 age-matched healthy controls (359 European Americans and 31 African Americans)										
132420	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	2	2q37.3	PDCD1	242440710	242449731		Kroner, A.  et al. 2005	15912506				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	5133	Hs.158297			Annals of neurology. 2005 Jul;58(1):50-7	A PD-1 polymorphism is associated with disease progression in multiple sclerosis.		600244	13075	2	2005	In conclusion, our data suggest that PD-1 polymorphism is a genetic modifier of the progression of MS, possibly through inducing a partial defect in PD-1-mediated inhibition of T-cell activation.	Control:272 healthy white controls;Case:939 German MS patients (mean age, 39 years; range, 13-71; 566 patients [60%] with relapsing-remitting MS, 279 (30%) with secondary, and 94 (10%) with primary progressive MS)										
132415	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	2	2q37.3	PDCD1	242440710	242449731	0.002	Kroner A Ann Neurol. 2005 Jul;58(1):50-7.	15912506	Recently, a regulatory single nucleotide polymorphism (SNP) named PD-1.3, with a G-to-A change at nucleotide 7146 (GenBank accession no. AF363458), located in an enhancer within the fourth intron of the PD-1 gene	Allele A of SNP PD-1.3 disrupts binding of the Runx1 transcription factor to the enhancer and thereby alters the regulation of gene expression		Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	German		KGB	5133	Hs.158297	disease progression		Annals of neurology. 2005 Jul;58(1):50-7	A PD-1 [PDCD1] polymorphism is associated with disease progression in multiple sclerosis.		600244	4913	1	2005	In conclusion, our data suggest that PD-1 polymorphism is a genetic modifier of the progression of MS, possibly through inducing a partial defect in PD-1-mediated inhibition of T-cell activation.	Control:272 healthy white controls;Case:939 German MS patients (mean age, 39 years; range, 13-71; 566 patients [60%] with relapsing-remitting MS, 279 (30%) with secondary, and 94 (10%) with primary progressive MS)										
132416	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Prokunina, L.  et al. 2002	12402038				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Mexican		CDC GDPinfo	5133	Hs.158297			Nature genetics. 2002 Dec;32(4):666-9	A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.		600244	13071	2	2002	We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0.00001, r.r. (relative risk) = 2.6) and Mexicans (found in 7% of affected individuals versus 2% of controls; P = 0.0009, r.r. = 3.5). The associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1, also called AML1) located in an intronic enhancer, suggesting a mechanism through which it can contribute to the development of SLE in humans.	Case individuals affected with systemic lupus:erythematosus;Control:controls										
132417	Y	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Lin, S. C.  et al. 2004	15022318				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	5133	Hs.158297			Arthritis and rheumatism. 2004 Mar;50(3):770-5	Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.		600244	13072	2	2004	 The PD-1 gene is significantly associated with RA susceptibility, suggesting the possibility that PD-1 may contribute to the pathogenesis of RA.	Control sex-matched control subjects for each disease group;Case:98/84 systemic lupus erythematosus (n=98) and rheumatoid:arthritis (n=84) patients										
132411	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731	0.0098	Sanghera DK 2004	15322919	intron 4 (G/A)			Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	European Americans and African Americans		KGB	5133	Hs.158297	antiphospholipid antibodies		Human genetics. 2004 Oct;115(5):393-8	Role of an intronic polymorphism in the PDCD1 gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies.		600244	4909	1	2004	Our data indicate polymorphism in intron 4 of the PDCD1 gene affects the occurrence of APA and may slightly modify the risk of sporadic SLE.	Case:311 sporadic systemic lupus erythematosus patients (276 European Americans and 35 African Americans);Control:390 age-matched healthy controls (359 European Americans and 31 African Americans)										
132413	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Lin SC 2004	15022318				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			KGB	5133	Hs.158297			Arthritis and rheumatism. 2004 Mar;50(3):770-5	Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.		600244	4911	1	2004	 The PD-1 gene is significantly associated with RA susceptibility, suggesting the possibility that PD-1 may contribute to the pathogenesis of RA.	Control sex-matched control subjects for each disease group;Case:98/84 systemic lupus erythematosus (n=98) and rheumatoid:arthritis (n=84) patients										
132414	Y	Lupus Nephritis	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731	0.002	Prokunina L 2004	14730631				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1		United States|Europe	KGB	5133	Hs.158297			Arthritis and rheumatism. 2004 Jan;50(1):327-8	The systemic lupus erythematosus-associated PDCD1 polymorphism PD1.3A in lupus nephritis.		600244	4912	1	2004												
132407		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	1	1p32.3	PCSK9	55277807	55303111		Graham, C. A.  et al. 2005	16159606				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDPinfo	255738	Hs.18844			Atherosclerosis. 2005 Oct;182(2):331-40	Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.		607786	25412	2	2005												
132409		retinitis pigmentosa	OTHER	OTH	Retinitis Pigmentosa	1	1q25.2	PDC	184679337	184696862		Nishiguchi, K. M.  et al. 2004	14758335				Phosducin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002597.3			CDC GDPinfo	5132	Hs.550			Molecular vision [electronic resource]. 2004 Jan;10:62-4	Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.		171490	18862	2	2004	 Phosducin mutations are not a major cause of dominant or recessive RP, Leber congenital amaurosis, or cone-rod degeneration. The human phenotype associated with phosducin defects remains unknown.	Cohort 853 patients with retinitis pigmentosa or an allied disease diseases 										
132410	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Prokunina L et al. 2002	12402038				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			KGB	5133	Hs.158297			Nature genetics. 2002 Dec;32(4):666-9	A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.		600244	4908	1	2002	We show that one intronic SNP in PDCD1 is associated with development of SLE in Europeans (found in 12% of affected individuals versus 5% of controls; P = 0.00001, r.r. (relative risk) = 2.6) and Mexicans (found in 7% of affected individuals versus 2% of controls; P = 0.0009, r.r. = 3.5). The associated allele of this SNP alters a binding site for the runt-related transcription factor 1 (RUNX1, also called AML1) located in an intronic enhancer, suggesting a mechanism through which it can contribute to the development of SLE in humans.	Case individuals affected with systemic lupus:erythematosus;Control:controls										
132404	Y	cholesterol; cholesterol, LDL	METABOLIC	MET	Myocardial Infarction|Hyperlipoproteinemia Type II	1	1p32.3	PCSK9	55277807	55303111		Shioji, K.  et al. 2004	14727156				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2	Japanese	Japan	CDC GDPinfo	255738	Hs.18844			Journal of human genetics. 2004 ;49(2):109-14	Genetic variants in PCSK9 affect the cholesterol level in Japanese		607786	18859	2	2004	These results provide the first evidence that common variants intron 1/C(-161)T and exon 9/I474 V in PCSK9 significantly affect TC and LDL-C levels in the general population in Japan.	Cohort 1,793 individuals from a large cohort representing the general population in Japan Japan 										
132405	Y	hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	1	1p32.3	PCSK9	55277807	55303111		Leren, T.   2004	15099351				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2		Norway	CDC GDPinfo	255738	Hs.18844			Clinical genetics. 2004 May;65(5):419-22	Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.		607786	18860	2	2004	Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia.	Cohort 51 Norwegian subjects with a clinical diagnosis of familial hypercholesterolemia 										
132406		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	1	1p32.3	PCSK9	55277807	55303111		Allard, D.  et al. 2005	16211558				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDPinfo	255738	Hs.18844			Human mutation. 2005 Nov;26(5):497	Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.		607786	18861	2	2005												
132401		blood pressure, arterial	CARDIOVASCULAR	CARD		15	15q26	PCSK6	99661655	99847710		Li, J. P.  et al. 2004	15043778				Proprotein convertase subtilisin/kexin type 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002570.3			CDC GDPinfo	5046	Hs.498494			Chinese medical journal. 2004 Mar;117(3):382-8	The association between paired basic amino acid cleaving enzyme 4 gene haplotype and diastolic blood pressure		167405	25411	2	2004	 This study for the first time demonstrated that PACE4 gene may play an important role in the regulation of DBP. This association indicates that variations influencing DBP resides in or near this genomic region.	Control:125 normal diastolid blood pressure subjects;Case:163 high diastolic blood pressure subjects										
132402	Y	cholesterol	METABOLIC	MET	Myocardial Infarction|Hyperlipoproteinemia Type II	1	1p32.3	PCSK9	55277807	55303111		Shioji K 2004	14727156				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2	Japanese	Japan	KGB	255738	Hs.18844			Journal of human genetics. 2004 ;49(2):109-14	Genetic variants in PCSK9 affect the cholesterol level in Japanese.		607786	6868	1	2004	These results provide the first evidence that common variants intron 1/C(-161)T and exon 9/I474 V in PCSK9 significantly affect TC and LDL-C levels in the general population in Japan.	Cohort 1,793 individuals from a large cohort representing the general population in Japan Japan										
132403		atherosclerosis, coronary; cholesterol, LDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipoproteinemia Type II|Chromosome Aberrations	1	1p32.3	PCSK9	55277807	55303111		Chen, S. N.  et al. 2005	15893176				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDPinfo	255738	Hs.18844			Journal of the American College of Cardiology. 2005 May;45(10):1611-9	A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.		607786	13070	2	2005	 Haplotype 3 encompassing the E670G variant is an independent determinant of plasma LDL-C levels and the severity of coronary atherosclerosis.	Cohort 319 subjects in a second independent population Cohort 372 subjects from the Lipoprotein Coronary Atherosclerosis Study (LCAS) population 										
132398	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Disease Progression	5	5q15-q21	PCSK1	95751874	95794708		Cosmo, S. D.  et al. 2002	12147786				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			CDC GDPinfo	5122	Hs.78977			Nephrology, dialysis, transplantation. 2002 Aug;17(8):1402-7	The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidencefor a polygenic control of kidney disease progression.		162150	23210	2	2002	 Our data suggest that, in type 1 diabetic patients, the ACE and the PC-1 genes interact in increasing the individual risk of having a faster DN progression.	Cohort 159/122 type 1 diabetic patients either with (n=159) or without (n=122) nephropathy 										
132399		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Body Weight	5	5q15-q21	PCSK1	95751874	95794708		Laukkanen, O.  et al. 2004	15127203				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3		Finland	CDC GDPinfo	5122	Hs.78977			Diabetologia. 2004 May;47(5):871-7	Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weightchange and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.		162150	26492	2	2004	The common polymorphisms of the IGF-1R, IRS-1 and IRS-2 genes may modify the weight change response to a lifestyle intervention but not the conversion from IGT to Type 2 diabetes, whereas IGF-1R may also regulate the risk of developing Type 2 diabetes.	Cohort 490 overweight subjects with impaired glucose tolerance whose DNA was available from the Finnish Diabetes Prevention Study 	diet physical activity									
132400	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20p11.2	PCSK2	17154751	17413222		Yoshida H et al. 1995	7698505				Proprotein convertase subtilisin/kexin type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB009973	Japanese		KGB	5126	Hs.315186			Diabetes. 1995 Apr;44(4):389-93	Association of the prohormone convertase 2 gene (PCSK2) on chromosome 20 with NIDDM in Japanese subjects.		162151	4906	1	1995												
132395		insulin resistance	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Obesity	5	5q15-q21	ENPP1	95751874	95794708		Frittitta, L.  et al. 2001	11739459				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			CDC GDPinfo	5122	Hs.78977			The Journal of clinical endocrinology and metaboli	The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.		162150	18856	2	2001	In conclusion, the Q121 PC-1 variant and obesity have independent and additive effects in causing insulin resistance.	Cohort 431 nondiabetic subjects [164 males, 267 females; age, 37 +/- 0.6 yr, mean +/- SEM; body mass index (BMI), 32.7 +/- 0.5 kg/m(2)] 	obesity									
132396		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Disease Progression	5	5q15-q21	PCSK1	95751874	95794708		Jacobsen, P.  et al. 2002	12147787				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			CDC GDPinfo	5122	Hs.78977			Nephrology, dialysis, transplantation. 2002 Aug;17(8):1408-12	PC-1 amino acid variant (K121Q) has no impact on progression of diabetic nephropathy in type 1 diabetic patients.		162150	18857	2	2002	 Our study did not reveal an association between the PC-1 amino acid variant K121Q and progression of diabetic nephropathy.	Cohort 295 (182 males) type 1 patients with diabetic nephropathy [mean age 37 (SE 0.7) years, mean duration of diabetes 23 (SE 0.5) years] 										
132397		diabetes, type 1	IMMUNE	IMM	Albuminuria|Diabetes Mellitus, Type 1	5	5q15-q21	PCSK1	95751874	95794708		de Azevedo, M. J.  et al. 2002	12126783				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			CDC GDPinfo	5122	Hs.78977			Journal of diabetes and its complications. 2002 Jul-Aug;16(4):255-62	ACE and PC-1 gene polymorphisms in normoalbuminuric Type 1 diabetic patients: a 10-year prospectivestudy.		162150	23209	2	2002	In conclusion, the presence of the ACE gene D allele in this sample of normoalbuminuric normotensive Type 1 diabetic patients was associated with a higher proportion of microvascular complications and hypertension.	Cohort 20 normotensive normoalbuminuric Type 1 diabetic patients 										
132392	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	5	5q15-q21	PCSK1	95751874	95794708	n	Rasmussen SK et al. 2000	10969849	K121Q		coding sequence	proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3	caucasian	Denmark	KGB	5122	Hs.78977			Diabetes. 2000 Sep;49(9):1608-11	The K121Q variant of the human PC-1 gene is not associated with insulin resistance or type 2 diabetes among Danish Caucasians.		162150	4905	1	2000	The K121Q polymorphism of the human PC-1 gene is not associated with type 2 diabetes or insulin resistance among Danish Caucasians.											
132393		diabetes, type 2; hypertension	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Birth Weight	5	5q15-q21	PCSK1	95751874	95794708		Kubaszek, A.  et al. 2004	15126519	K121Q			Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			CDC GDPinfo	5122	Hs.78977			The Journal of clinical endocrinology and metabolism. 2004 May;89(5):2044-7	The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth.		162150	13069	2	2004	We conclude that  the interaction between the K121Q polymorphism of the PC-1 gene and birth length affects insulin sensitivity and increases susceptibility to type 2 diabetes and hypertension in adulthood.	Cohort 489 subjects born in Helsinki during 1924-1933 Helsinki, Finland 										
132394		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State	5	5q15-q21	PCSK1	95751874	95794708		Wanic, K.  et al. 2002	12715715				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3	Polish	Poland	CDC GDPinfo	5122	Hs.78977			Przegl Lek. 2002 ;59(11):888-91	[TNF-alpha PC-1 gene polymorphisms and pre-diabetes quantitative features in the Polish population]		162150	14343	2	2002	 Our study suggests that both examined polymorphisms: the -308 G/A in the promoter region of TNF-alpha and K121Q amino acid variant of the PC-1; influence the development of insulin resistance as a prediabetic quantitative trait in a Polish population.	Cohort 60 individuals Poland 										
132388		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	5	5q15-q21	PCSK1	95751874	95794708		Hamaguchi K 2004	15001634	Q121			Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3		Dominican Republic	KGB	5122	Hs.78977			The Journal of clinical endocrinology and metabolism. 2004 Mar;89(3):1359-64	The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes.		162150	4901	1	2004												
132389	Y	obesity	METABOLIC	MET	Obesity	5	5q15-q21	PCSK1	95751874	95794708		Jackson RS et al. 1997	9207799				Proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3			KGB	5122	Hs.78977			Nature genetics. 1997 Jul;16(3):303-6	Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.		162150	4902	1	1997												
132390	N	Diabetic microvascular complications	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 1	5	5q15-q21	PCSK1	95751874	95794708	n	Tarnow L et al. 2001	11477169				proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3	caucasian		KGB	5122	Hs.78977			Nephrology, dialysis, transplantation. 2001 Aug;16(8):1653-6	Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients.		162150	4903	1	2001	 Neither the PC-1 K121Q nor the GLUT-1 XbaI polymorphism contribute to the genetic susceptibility of diabetic microvascular complications in Danish type 1 diabetic patients.											
132385		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.2	PCQAP	19191885	19271919		De Luca A et al. 2003	12497610				PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003891.1			KGB	51586	Hs.517421			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):32-5	Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.		607372	6765	1	2003	This result may indicate a possible involvement of the multiprotein complex PC2 in schizophrenia susceptibility.	Case:378:schizophrenics;Control:444:controls										
132386		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.2	PCQAP	19191885	19271919		Sandhu, H. K.  et al. 2004	15318033				PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003891.1			CDC GDPinfo	51586	Hs.517421			Psychiatric genetics. 2004 Sep;14(3):169-72	An association study of PCQAP polymorphisms and schizophrenia.		607372	13068	2	2004	 These findings limit the role of exon 7 PCQAP polymorphisms in the pathogenesis of schizophrenia.	Case:233 Italian schizophrenics;Control:371 random controls										
132387		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.2	PCQAP	19191885	19271919		De Luca, A.  et al. 2003	12497610				PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003891.1			CDC GDPinfo	51586	Hs.517421			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):32-5	Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia.		607372	18855	2	2003	This result may indicate a possible involvement of the multiprotein complex PC2 in schizophrenia susceptibility.	Case:378:schizophrenics;Control:444:controls										
132381	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	14	14q11.2	PCK2	23633101	23643179		Horikawa, Y.  et al. 2003	12916001			promoter	Phosphoenolpyruvate carboxykinase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004563.2	Japanese	Japan	CDC GDPinfo	5106	Hs.75812			Horm Metab Res. 2003 May;35(5):308-12	Identification of a novel variant in the phosphoenolpyruvate carboxykinase gene promoter in Japanese patients with type 2 diabetes.		261650	18854	2	2003	Accordingly, the single-base variant at position - 232 of the PEPCK gene promoter is most probably not a major contributor to the pathogenesis of type 2 diabetes. However, this variation may be useful as a genetic marker for other metabolic disorders, especially in Japanese.	Control:188 non-diabetic controls;Case:252 Japanese type 2 diabetic patients										
132383		neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism|Genetic Predisposition to Disease	6	6q24-q25	PCMT1	150112657	150174249		Zhu, H.  et al. 2005	16256389	(Ile120Val)			Protein-L-isoaspartate (D-aspartate) O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005389.1			CDC GDPinfo	5110	Hs.279257			Molecular genetics and metabolism. 2006 Jan;87(1):66-70	A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.		176851	13067	2	2005												
132384		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	20	20pter-p12	PCNA	5043598	5055268		Zienolddiny, S.  et al. 2005	16195237				Proliferating cell nuclear antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002592.2			CDC GDPinfo	5111	Hs.147433			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		176740	28392	2	2005												
132378		atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension|Diabetes Mellitus	20	20q13.31	PCK1	55569542	55574922		Hegele, R. A.  et al. 2005	16282543			promoter	Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2		Canada	CDC GDPinfo	5105	Hs.1872			Stroke; a journal of cerebral circulation. 2005 Dec;36(12):2566-70	Disparate associations of a functional promoter polymorphism in PCK1 with carotid wall ultrasound traits.		261680	13065	2	2005	 The findings connect the key enzyme in gluconeogenesis with atherosclerosis. The meaning of the opposing associations of PCK1 genotype with IMT and TPV is unclear; more work is required to confirm whether these might be distinct quantitative traits with different biological determinants.											
132379		triglycerides; diabetes, type 2; lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.31	PCK1	55569542	55574922		Shin, H. D.  et al. 2005	16132948				Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2		Korea	CDC GDPinfo	5105	Hs.1872			Diabetologia. 2005 Oct;48(10):2025-32	Association of a polymorphism in the gene encoding phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein and triglyceride levels.		261680	13066	2	2005												
132380	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	14	14q11.2	PCK2	23633101	23643179		Horikawa Y 2003	12916001				Phosphoenolpyruvate carboxykinase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004563.2	Japanese	Japan	Y Wang	5106	Hs.75812			Horm Metab Res. 2003 May;35(5):308-12	Identification of a novel variant in the phosphoenolpyruvate carboxykinase gene promoter in Japanese patients with type 2 diabetes.		261650	4900	1	2003	Accordingly, the single-base variant at position - 232 of the PEPCK gene promoter is most probably not a major contributor to the pathogenesis of type 2 diabetes. However, this variation may be useful as a genetic marker for other metabolic disorders, especially in Japanese.	Control:188 non-diabetic controls;Case:252 Japanese type 2 diabetic patients										
132375	N	Usher syndrome	VISION	VIS	Abnormalities, Multiple|Syndrome	10	10p11.2-q21	PCDH15	55250865	57057708		Ouyang, X. M.  et al. 2005	15660226				Protocadherin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033056.2			CDC GDPinfo	65217	Hs.232819			Human genetics. 2005 Mar;116(4):292-9	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population		605514	25410	2	2005	The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.	Cohort Usher syndrome type I patients US and UK 										
132376		retinitis pigmentosa; Leber congenital amaurosis; Usher Syndrome Type I	VISION	VIS	Blindness|Retinal Degeneration|Retinitis Pigmentosa|Usher Syndromes	10	10q22.1-q22.3	PCDH21	85944496	85969356		Bolz, H.  et al. 2005	16288196				Protocadherin 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033100.1			CDC GDPinfo	92211	Hs.137556			Molecular vision [electronic resource]. 2005 Nov;11:929-33	Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.			18853	2	2005	 PCDH21 mutations are not a major cause of the retinal diseases investigated herein, and the corresponding human phenotype remains to be determined. Our data may facilitate future investigations of patients with various (other) forms of inherited retinal dystrophy.											
132377	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.31	PCK1	55569542	55574922		Cao H 2004	14764811			5' promoter	Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2	caucasian	Canada	KGB	5105	Hs.1872			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):898-903	Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus.		261680	4899	1	2004	Thus, we report a promoter SNP in PCK1 that was resistant to down-regulation by insulin in vitro and was associated with type 2 DM in two independent study samples.											
132371		diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q23	PBX1	162795560	163082934		Wang, H.  et al. 2005	16140554				Pre-B-cell leukemia transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002585.1			CDC GDPinfo	5087	Hs.493096			Molecular genetics and metabolism. 2005 Nov;86(3):384-91	Evaluation of sequence variants in the pre-B cell leukemia transcription factor 1 gene: a positionaland functional candidate for type 2 diabetes and impaired insulin secretion.		176310	18850	2	2005			body mass									
132372		astrocytic tumors	OTHER	OTH	Astrocytoma|Glioblastoma|Brain Neoplasms|	3	3p24	PCAF	20056527	20170900		Nishimori H et al. 2000	10896202				P300/CBP-associated factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003884.3			KGB	8850	Hs.533055			Journal of neuro-oncology. 2000 ;46(1):17-22	Analysis of the p300/CBP-Associated Factor (PCAF) gene in astrocytic tumors.			6600	1	2000	We conclude that  the PCAF gene is not mutated during the development of the astrocytic tumors studied here.											
132373		diabetes, type 2; beta-cell function	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	10	10q22	PCBD1	72313272	72318547		Ek, J.  et al. 2001	11668623				pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000281.2	Danish	Netherlands	CDC GDPinfo	5092	Hs.3192			Human mutation. 2001 Oct;18(4):356-7	Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function		126090	19791	2	2001	In conclusion, mutations in HNF-1beta and DCoH are not a major cause of MODY or late onset type 2 diabetes in Danish Caucasian subjects.	Cohort 11 MODY probands ;Control:229 glucose tolerant middle-aged control subjects:Cohort:28 type 2 diabetic patients with nephropathy;Control:302 glucose tolerant 60-year-old Danish Caucasians:Cohort:46 type 2 diabetic patients with an impaired beta-cell:function;Case:584 type 2 diabetic patients										
132369	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q23	PBX1	162795560	163082934		Thameem F 2001	11267683				Pre-B-cell leukemia transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002585.1	Pima Indians	United States	Y Wang	5087	Hs.493096			Biochimica et biophysica acta. 2001 Mar;1518(2-Jan):215-20	Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians.		176310	4898	1	2001	Comparison of the frequencies of the polymorphisms between affected and unaffected Pima Indians did not detect any significant differences, indicating that mutations in PBX1 do not explain the linkage of 1q with type 2 diabetes in this population. The genomic structure of PBX1 provides a basis for similar systematic examinations of this candidate locus in other populations in relation to both type 2 diabetes and other metabolic disorders.	Case type 2 diabetes affected Pima Indians;Control Pima Indians not affected with type 2 diabetes										
132370	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q23	PBX1	162795560	163082934		Thameem, F.  et al. 2001	11267683				Pre-B-cell leukemia transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002585.1	Pima Indian	United States	CDC GDPinfo	5087	Hs.493096			Biochimica et biophysica acta. 2001 Mar;1518(2-Jan):215-20	Analysis of PBX1 as a candidate gene for type 2 diabetes mellitus in Pima Indians.		176310	18849	2	2001	Comparison of the frequencies of the polymorphisms between affected and unaffected Pima Indians did not detect any significant differences, indicating that mutations in PBX1 do not explain the linkage of 1q with type 2 diabetes in this population. The genomic structure of PBX1 provides a basis for similar systematic examinations of this candidate locus in other populations in relation to both type 2 diabetes and other metabolic disorders.	Case type 2 diabetes affected Pima Indians;Control Pima Indians not affected with type 2 diabetes										
132364	Y	hypodontia	DEVELOPMENTAL	DEV	Anodontia	14	14q12-q13	PAX9	36200655	36215621		Das P et al. 2002	11941488				Paired box gene 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006194.1			KGB	5083	Hs.132576			Human genetics. 2002 Apr;110(4):371-6	Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.		167416	4896	1	2002												
132365		non-syndromic oligodontia	DEVELOPMENTAL	DEV	Anodontia	14	14q12-q13	PAX9	36200655	36215621		Jumlongras D 2004	14689302				Paired box gene 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006194.1			KGB	5083	Hs.132576			Human genetics. 2004 Feb;114(3):242-9	A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.		167416	4897	1	2004												
132366		hypodontia	DEVELOPMENTAL	DEV	Anodontia|Genetic Predisposition to Disease	14	14q12-q13	PAX9	36200655	36215621		Peres, R. C.  et al. 2005	16137495			promoter	Paired box gene 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006194.1			CDC GDPinfo	5083	Hs.132576			Archives of oral biology. 2005 Oct;50(10):861-71	Association between PAX-9 promoter polymorphisms and hypodontia in humans.		167416	13064	2	2005												
132367		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	14	14q12-q13	PAX9	36200655	36215621		Ichikawa, E.  et al. 2005	16247549				Paired box gene 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006194.1	Japanese		CDC GDPinfo	5083	Hs.132576			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		167416	25409	2	2005												
132360	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218		Hermann, R.  et al. 2005	16123375				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1	Finnish	Hungary|Finland	CDC GDPinfo	5078	Hs.129706			Diabetes. 2005 Sep;54(9):2816-9	Lack of association of PAX4 gene with type 1 diabetes in the Finnish and Hungarian populations.		167413	18846	2	2005												
132361		epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic|Epilepsy, Generalized|Epilepsy, Absence|Genetic Predisposition to Disease	11	11p13	PAX6	31767033	31789455		Sander T et al. 1999	10463851			promoter	Paired box gene 6 (aniridia, keratitis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000280.2			KGB	5080	Hs.591993			Epilepsy research. 1999 Aug;36(1):61-7	Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy.		607108	4894	1	1999												
132362		schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia, Paranoid	11	11p13	PAX6	31767033	31789455		Stober G et al. 1999	10376119				Paired box gene 6 (aniridia, keratitis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000280.2			KGB	5080	Hs.591993			Biological psychiatry. 1999 Jun;45(12):1585-91	Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia.		607108	4895	1	1999	 Our finding indicates that early developmental genes may be involved in the etiopathogenesis of schizophrenia subtypes via variable transcriptional regulation in the developing and adult human brain.											
132363		brain atrophy	NEUROLOGICAL	NEUR	Alcoholism|Atrophy	11	11p13	PAX6	31767033	31789455		Samochowiec, J.  et al. 2002	12043047			promoter	Paired box gene 6 (aniridia, keratitis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000280.2			CDC GDPinfo	5080	Hs.591993			Psychiatria polska. 2002 ;36(2):303-10	[PAX-6 gene promoter polymorphism and other factors involved in brain atrophy in alcohol dependent patients]		607108	13063	2	2002	We found negative correlation between numbers of PAX-6 gene promoter B (AC)m (AG)n repeats and atrophy of the brain and the cerebellum. Occurrence of these lesions was correlated with a decrease of alcohol tolerance, withdrawal symptoms--especially delirium tremens.	Cohort 68 alcoholics 										
132357	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218		Shimajiri, Y.  et al. 2001	11723072				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1	Japanese	Japan	CDC GDPinfo	5078	Hs.129706			Diabetes. 2001 Dec;50(12):2864-9	A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.		167413	18843	2	2001	This is the first report of a Pax4 gene mutation that exhibits loss of function and seems to be associated with type 2 diabetes. This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.	Cohort 200 unrelated Japanese type 2 diabetic patients 										
132358		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218		Mauvais-Jarvis, F.  et al. 2004	15509590				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1		Africa, Western	CDC GDPinfo	5078	Hs.129706			Human molecular genetics. 2004 Dec;13(24):3151-9	PAX4 gene variations predispose to ketosis-prone diabetes.		167413	18844	2	2004	Together these data provide the first evidence that ethnic-specific gene variants may contribute to the predisposition to this particular form of diabetes and suggests that KPD, like maturity onset diabetes of the young (MODY), is a rare, phenotypically-defined but genetically heterogeneous form of type 2 diabetes.	Case:101 subjects with ketosis-prone diabetes;Control:147/355 subjects with common type 2 or type 1 diabetes (n=147) and controls (n=355)										
132359	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	7	7q32	PAX4	127037581	127043218		Biason-Lauber, A.  et al. 2005	15834548				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1		Switzerland	CDC GDPinfo	5078	Hs.129706			Diabetologia. 2005 May;48(5):900-5	Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cellregenerative capacity.		167413	18845	2	2005	We have identified a link between beta cell regenerative capacity and susceptibility to type 1 diabetes. This finding could explain the fact that not all of the individuals who develop autoimmunity against beta cells actually contract the disease. The C/C genotype of the A1168C polymorphism in PAX4 can be viewed as a predisposition marker that can help to detect individuals prone to develop type 1 diabetes.	Control:1,070 controls from two distinct populations (n=1070) and children who had not developed type 1 diabetes, despite the presence of islet cell antibodies;Case:379 diabetic children from two distinct populations										
132353	Y	isolated colobomas or colobomas associated	OTHER	OTH	Coloboma|Urogenital Abnormalities|Vesico-Ureteral Reflux|Abnormalities, Multiple|Syndrome	10	10q24	PAX2	102495321	102579688		Cunliffe HE et al. 1998	9783702				Paired box gene 2				KGB	5076	Hs.155644			Journal of medical genetics. 1998 Oct;35(10):806-12	The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.		167409	4890	1	1998	We conclude that  PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.											
132355	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218	0.005	Shimajiri Y 2003	12604352				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1	Japanese	Japan	KEW	5078	Hs.129706			Biochemical and biophysical research communications. 2003 Mar;302(2):342-4			167413	4892	1	2003	The R121W mutation in PAX4 is a predisposing factor for the development of type 2 diabetes in Okinawans.	Case:193; Control:372										
132356	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218		Shimajiri Y et al. 2001	11723072				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1	Japanese	Japan	KGB	5078	Hs.129706			Diabetes. 2001 Dec;50(12):2864-9	A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese.		167413	4893	1	2001	This is the first report of a Pax4 gene mutation that exhibits loss of function and seems to be associated with type 2 diabetes. This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.	Cohort 200 unrelated Japanese type 2 diabetic patients										
132350		benzene toxicity	METABOLIC	MET	DNA Damage|Chronic Disease|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Zhang, Z.  et al. 2005	16284386				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Chinese	China	CDC GDPinfo	142	Hs.177766			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2614-9	Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population.		173870	23207	2	2005												
132351		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Hao, B.  et al. 2004	15205355				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Chinese		CDC GDPinfo	142	Hs.177766			Cancer research. 2004 Jun;64(12):4378-84	Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma		173870	25408	2	2004	The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.	Control;Case;Case:419 Chinese patients with newly diagnosed esophageal:cancer;Control:480 healthy controls mathched on age and sex										
132352		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Esfandiary, H.  et al. 2005	15774926				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDPinfo	142	Hs.177766			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		173870	28182	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
132347	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Zhang, X.  et al. 2005	15705867				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDPinfo	142	Hs.177766			Cancer research. 2005 Feb;65(3):722-6	Polymorphisms in DNA base excision repair genes ADPRT and XRCC1 and risk of lung cancer.		173870	13062	2	2005	In conclusion, the ADPRT Val762Ala polymorphism plays an important role in smoking-related lung cancer and the XRCC1 Arg399Gln polymorphism may serve as a risk modifier.	Case:1,000 lung cancer cases;Control:1,000 cancer-free controls	smoking (tobacco)	ADPRT		XRCC123				Y	smoking (tobacco)	Lung cancer
132348	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Pascual, M.  et al. 2003	12632415			promoter	Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Spanish	Spain	CDC GDPinfo	142	Hs.177766			Arthritis and rheumatism. 2003 Mar;48(3):638-41	A poly(ADP-ribose) polymerase haplotype spanning the promoter region confers susceptibility to rheumatoid arthritis.		173870	18841	2	2003	 Our results demonstrate the existence of 2 unique PARP-1 haplotypes in the Spanish population and provide the first evidence that PARP-1 haplotypes play a role in susceptibility to RA.	Case rheumatoid arthritis patients;Control:controls										
132349		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Lockett, K. L.  et al. 2004	15342424				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDPinfo	142	Hs.177766			Cancer research. 2004 Sep;64(17):6344-8	The ADPRT V762A genetic variant contributes to prostate cancer susceptibility and deficient enzyme function.		173870	18842	2	2004	This study is the first to provide evidence that the ADPRT V762A-genetic variant contributes to CaP susceptibility and altered ADPRT/PARP-1 enzyme function in response to oxidative damage.	Case:488 prostate cancer cases;Control:524:controls										
132344	N	Longevity	AGING	AGE		1	1q41-q42	PARP1	224615128	224662414	n	Cottet F 2000	11097112	C402T. T1011C. and G1215A			poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	French		TJB	142	Hs.177766			Journal of molecular medicine (Berlin, Germany). 2000 ;78(8):431-40			173870	152	1	2000		Case:324; Control:324										
132345	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Delrieu, O.  et al. 2001	11591122				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	French	France	CDC GDPinfo	142	Hs.177766			Journal of autoimmunity. 2001 Sep;17(2):137-40	A dinucleotide repeat polymorphism at the poly(ADP-ribose) polymerase gene is not associated with predisposition to type 1 diabetes in French Caucasians.		173870	13060	2	2001	Our results suggest that this PARP polymorphism does not influence susceptibility to type 1 diabetes in French Caucasians.	Case:158 unrelated French Caucasian patients with type 1:diabetes:France;Control:193 thnically-matched healthy controls										
132346		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Tang, L.  et al. 2002	11941587				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Chinese	China	CDC GDPinfo	142	Hs.177766			Zhonghua yi xue yi chuan xue za zhi. 2002 Apr;19(2):124-6	[Distribution of poly(ADP-ribose) polymerase pseudogene polymorphism and association with susceptibility to lung cancer in Chinese people]		173870	13061	2	2002	 Frequency of B allele is relatively lower in Chinese people than in other races. In smokers, B allele may be a susceptible marker of lung cancer, and there is synergistic function between B allele and smoking.	Case:63 Chinese lung cancer patients;Control:82 healthy controls matched for age and gender	smoking (tobacco)									
132341	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Progression	1	1q41-q42	PARP1	224615128	224662414		Szabo C et al. 2002	12438293				poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			KGB	142	Hs.177766			Circulation. 2002 Nov;106(21):2680-6	Poly(ADP-Ribose) polymerase is activated in subjects at risk of developing type 2 diabetes and is associated with impaired vascular reactivity.		173870	149	1	2002	 PARP activation is present in healthy subjects at risk of developing diabetes as well as in established type 2 diabetic patients, and it is associated with impairments in the vascular reactivity in the skin microcirculation.											
132342	Y	predisposition to cancer	CANCER	CAN	Neoplasms|Multiple Myeloma|Lung Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Lyn D et al. 1993	8434580				poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			KGB	142	Hs.177766			American journal of human genetics. 1993 Jan;52(1):124-34	A duplicated region is responsible for the poly(ADP-ribose) polymerase polymorphism on chromosome 13 associated with a predisposition to cancer.		173870	150	1	1993												
132343	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414	n	Delrieu O et al. 2001	11591122				poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	French Caucasian	France	KGB	142	Hs.177766			Journal of autoimmunity. 2001 Sep;17(2):137-40	A dinucleotide repeat polymorphism at the poly(ADP-ribose) polymerase gene is not associated with predisposition to type 1 diabetes in French Caucasians.		173870	151	1	2001	Our results suggest that this PARP polymorphism does not influence susceptibility to type 1 diabetes in French Caucasians.	Case:158 unrelated French Caucasian patients with type 1:diabetes:France;Control:193 thnically-matched healthy controls										
132337		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Klein, C.  et al. 2005	15970950				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3	Italian	Italy	CDC GDPinfo	11315	Hs.419640			European journal of human genetics. 2005 Sep;13(9):1086-93	PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.		602533	23205	2	2005												
132338		Parkinson's disease	NEUROLOGICAL	NEUR		1	1p36.33-p36.12	PARK7	7944320	7967928		Paisan-Ruiz, C.  et al. 2005	15958754				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3			CDC GDPinfo	11315	Hs.419640			Neurology    2005	LRRK2 gene in Parkinson disease.		602533	25407	2	2005												
132339	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414	0.003	pascual et al. 2003	12632415			5'promoter	Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Spanish	Spain	Javier Martin	142	Hs.177766			Arthritis and rheumatism. 2003 Mar;48(3):638-41	A poly(ADP-ribose) polymerase haplotype spanning the promoter region confers susceptibility to rheumatoid arthritis		173870	147	1	2003	 Our results demonstrate the existence of 2 unique PARP-1 haplotypes in the Spanish population and provide the first evidence that PARP-1 haplotypes play a role in susceptibility to RA.	Case rheumatoid arthritis patients;Control:controls										
132333		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Tan, E. K.  et al. 2004	15308309				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3			CDC GDPinfo	11315	Hs.419640			Neuroscience letters. 2004 Aug;367(1):109-12	Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity.		602533	18837	2	2004	Unlike Parkin, pathogenic DJ-1 mutations appear to be restricted to certain populations and are unlikely to be of clinical importance in our Asian cohort.	Cohort a multi-ethnic cohort (Chinese, Malays, and Indians) of Parkinson's disease patients in a tertiary referral center 										
132334		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Lockhart, P. J.  et al. 2004	15372597				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3	Chinese	China|Taiwan	CDC GDPinfo	11315	Hs.419640			Movement disorders. 2004 Sep;19(9):1065-9	Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism.		602533	18838	2	2004	Our results and previous studies suggest that alterations to DJ-1 are not a common cause of early-onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified.	Cohort 41 patients originating from Taiwan with early-onset Parkinson's disease Taiwan 										
132335		dementia	PSYCH	PSY	Dementia|Alzheimer Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Arias Vasquez, A.  et al. 2004	15542239				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3		Netherlands	CDC GDPinfo	11315	Hs.419640			Neuroscience letters. 2004 Dec;372(3):196-9	A deletion in DJ-1 and the risk of dementia--a population-based survey.		602533	18839	2	2004	Our results suggest it is unlikely that haploinsufficiency in the DJ-1 gene imparts an increased risk for dementia.	Control:129 non-demented subjects;Case:191 patients with dementia,, ascertained from the genetically isolated population where the first kindred with DJ-1 related Parkinsonism was originally identified										
132330		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Eerola, J.  et al. 2003	14557580				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3	Finnish	Finland	CDC GDPinfo	11315	Hs.419640			Neurology. 2003 Oct;61(7):1000-2	Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD		602533	13059	2	2003	This gene does not play a major role in the genetic predisposition to PD in this population.	Control:controls;Case Finnish Parkinson's disease cases:Finland										
132331		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression|Genetic Predisposition to Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Hedrich, K.  et al. 2004	14872018				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3			CDC GDPinfo	11315	Hs.419640			Neurology. 2004 Feb;62(3):389-94	DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.		602533	18834	2	2004	 Mutations in DJ-1 are less frequent than mutations in Parkin in EOPD patients but should be considered as a possible cause of EOPD. The effect of single heterozygous mutations in DJ-1 on the nigrostriatal system, as described for heterozygous changes in Parkin and PARK6, remains to be elucidated.	Control:controls;Case:100 early-onset Parkinson disease patients										
132332		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Maraganore, D. M.  et al. 2004	15304593				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3		Great Lakes Region	CDC GDPinfo	11315	Hs.419640			Neurology. 2004 Aug;63(3):550-3	A limited role for DJ1 in Parkinson disease susceptibility.		602533	18836	2	2004	None of the four haplotype tagging single-nucleotide polymorphisms (SNPs) was associated with PD overall, but SNP1 (position 4,345 bp) and SNP3 (position 16,491 bp) were associated with PD in women (p = 0.03 and p = 0.002).	Control:190 unrelated control subjects;Case:691 Parkinson's disease probands										
132326		leprosy	INFECTION	INF		6	6q25.2-q27	PARK2	161689661	163068790			16391553				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Indian		CDC GDPinfo	5071	Hs.132954			European journal of human genetics. 2005	Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population		602544	23202	2	2005												
132328	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Eerola, J.  et al. 2002	12270650				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Finnish	Finland	CDC GDPinfo	5071	Hs.132954			Neuroscience letters. 2002 Sep;330(3):296-8	Apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes and susceptibility to sporadic Parkinson's disease in Finland.		602544	25406	2	2002	None of these polymorphisms showed association with PD in our series. In contrast to reports in oriental populations, our results do not support a major role of APOE, PARKIN and COMT polymorphisms in PD susceptibility in the Finnish population.	Control:137:controls;Case:147 Finnish non-demented patients with sporadic PD										
132329	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36.33-p36.12	PARK7	7944320	7967928	n	Dekker MC 2003	14504966				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3		Netherlands	KGB	11315	Hs.419640			Journal of neurology. 2003 Sep;250(9):1056-62	A clinical-genetic study of Parkinson's disease in a genetically isolated community.		602533	6718	1	2003												
132323		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Klein, C.  et al. 2005	15970950				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Italian	Italy	CDC GDPinfo	5071	Hs.132954			European journal of human genetics. 2005 Sep;13(9):1086-93	PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.		602544	18910	2	2005												
132324		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Movement Disorders|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Maraganore, D. M.  et al. 2003	12784265				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Movement disorders. 2003 Jun;18(6):631-6	Complex interactions in Parkinson's disease: atwo-phased approach.		602544	20056	2	2003	Our findings are consistent with the hypothesis that PD is a multigenic disorder of the UPS.	Control:185:controls;Case:298 unrelated Parkinson's disease cases										
132325		Parkinson's disease	NEUROLOGICAL	NEUR		6	6q25.2-q27	PARK2	161689661	163068790		Paisan-Ruiz, C.  et al. 2005	15958754				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Neurology    2005	LRRK2 gene in Parkinson disease.		602544	23201	2	2005												
132319		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Shyu, W. C.  et al. 2005	15823482				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Chinese		CDC GDPinfo	5071	Hs.132954			Parkinsonism & related disorders. 2005 May;11(3):173-80	Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin geneanalysis and clinical study.		602544	18830	2	2005	This is the first study to examine EOPD patients of Chinese ethnic background (not exhibiting a definite familial trait), to offer a complete genetic analysis of the Parkin gene, and to correlate clinical stages of the disease with dopamine re-uptake.	Cohort 30 early-onset Parkinson's disease cases from a Chinese cohort of 230 										
132320		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Madegowda, R. H.  et al. 2005	16227559				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Indian	India	CDC GDPinfo	5071	Hs.132954			Journal of neurology, neurosurgery, and psychiatry. 2005 Nov;76(11):1588-90	Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.		602544	18831	2	2005												
132321		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790			16367892				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Acta neurologica Scandinavica. 2006 Jan;113(1):13-Sep	Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and Germancohorts		602544	18832	2	2006	 The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late-onset forms of PD in rare cases.											
132315	N	essential tremor	NEUROLOGICAL	NEUR	Essential Tremor	6	6q25.2-q27	PARK2	161689661	163068790		Pigullo, S.  et al. 2004	15261877				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Italian	Italy	CDC GDPinfo	5071	Hs.132954			Parkinsonism & related disorders. 2004 Aug;10(6):357-62	Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.		602544	18826	2	2004	 Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.	Cohort 110 unrelated essential tremor patients Italy 										
132316		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Poorkaj, P.  et al. 2004	15266615				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			American journal of medical genetics Part A. 2004 Aug;129(1):44-50	parkin mutation analysis in clinic patients with early-onset Parkinson's disease.		602544	18827	2	2004	In conclusion, parkin mutations are common in the	Case:39 patients selected from a movement disorder clinic based on diagnosis of PD and onset age;Control:96:controls										
132317	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Wang, T.  et al. 2004	15315343				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Chinese		CDC GDPinfo	5071	Hs.132954			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(3):262-5	Exon deletions of parkin gene in patients with Parkinson disease.		602544	18828	2	2004	The results showed that parkin gene deletion on exon 2, exon 3 and exon 4 found in Chinese population contributes partly to early onset PD.	Cohort 63 Parkinson's disease patients 										
132312		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression	6	6q25.2-q27	PARK2	161689661	163068790		Lohmann, E.  et al. 2003	12891670				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Annals of neurology. 2003 Aug;54(2):176-85	How much phenotypic variation can be attributed to parkin genotype?		602544	18823	2	2003		Cohort 146/250 patients with (n=`146) and patients without (n=250) parkin mutations 										
132313	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Wang, T.  et al. 2003	12973932				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Chinese		CDC GDPinfo	5071	Hs.132954			Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(2):145-7	Point mutation in the parkin gene on patients with Parkinson's disease.		602544	18824	2	2003	It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson's disease in Chinese.	Case:70 Chinese Parkinson's disease patients, divided into late- and early-onset;Control:70 healthy subjects										
132314		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Lincoln, S. J.  et al. 2003	14639672				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		United States	CDC GDPinfo	5071	Hs.132954			Movement disorders. 2003 Nov;18(11):1306-11	Parkin variants in North American Parkinson's disease: cases and controls.		602544	18825	2	2003	However, point mutations and exonic deletions/duplications, reported previously as pathogenic in homozygous or compound heterozygous individuals, occurred in both cases and controls with similar frequencies (3.8+ACU- in cases, 3.1+ACU- in controls). Furthermore, only stratified subanalyses detected any genetic association between the V380L common coding polymorphism and PD. We discuss the implication of parkin mutations for Parkinson's disease from this population perspective.	Control:192 unrelated controls;Case:313 Parkinson's disease cases										
132309	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Peng, R.  et al. 2003	12584415				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Chinese	China	CDC GDPinfo	5071	Hs.132954			European neurology. 2003 ;49(2):85-9	Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-west china		602544	18820	2	2003	In summary, homozygous deletion mutations and point mutations in exons 1-12 of the Parkin gene were not detected in this Han Chinese population, although we cannot exclude compound heterozygous deletions. In addition, our study suggests that the variant 167Asn increases the risk of developing PD.	Case:116 sporadic Parkinson's disease patients South-west China;Control:124 controls matched for age and gender										
132310		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Periquet, M.  et al. 2003	12764050				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Brain. 2003 Jun;126(Pt 6):1271-8	Parkin mutations are frequent in patients with isolated early-onset parkinsonism		602544	18821	2	2003	There were no clinical group differences between parkin cases and other patients with early-onset parkinsonism. However, a single case presenting with cerebellar ataxia several years before typical parkinsonism extends the spectrum of parkin related-disease.	Cohort 146 Parkinson's disease patients of various geographical origin with an age at onset 										
132311		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Chen, R.  et al. 2003	12781599				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		United States	CDC GDPinfo	5071	Hs.132954			Parkinsonism & related disorders. 2003 Jun;9(5):309-12	Parkin mutations are rare in patients with young-onset parkinsonism in a US population.		602544	18822	2	2003	Our results suggest parkinsonism due to mutations in the parkin gene is extremely rare in the US population when the disease begins over the age of 30.	Cohort 27 consecutive patients with typical parkinsonism beginning before the age of 50 years US 										
132306		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q25.2-q27	PARK2	161689661	163068790		Ujike, H.  et al. 2001	11215568				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		Japan	CDC GDPinfo	5071	Hs.132954			Movement disorders. 2001 Jan;16(1):111-3	Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease		602544	18817	2	2001	Deletions in the parkin gene were found in only 2.2% of the patients. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.	Case:184 Japanese patients with Parkinson's disease										
132307	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Hedrich, K.  et al. 2002	11971093				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Neurology. 2002 Apr;58(8):1239-46	Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations		602544	18818	2	2002	 The authors systematically screened all 12 Parkin exons by quantitative PCR and conventional methods in 50 probands. Eight mutations were newly reported, 2 of which are localized in exon 1, and 38% of the mutations were gene dosage alterations. These results underline the need to screen all exons and to undertake gene dosage studies. Furthermore, this study reveals a frequency of heterozygous mutation carriers that may signify a unique mode of inheritance and expression of the Parkin gene.	Case:50 probands with onset of Parkinson's disease at younger than 50 years of age										
132308	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		West, A. B.  et al. 2002	12374768			promoter	Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Human molecular genetics. 2002 Oct;11(22):2787-92	Functional association of the parkin gene promoter with idiopathic Parkinson's disease		602544	18819	2	2002	Our results further implicate the parkin gene in the development of Parkinson's disease.											
132303		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Lucking, C. B.  et al. 2003	12975291				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Archives of neurology. 2003 Sep;60(9):1253-6	Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.		602544	13056	2	2003	 Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.	Control:125:controls;Case:194 patients with Parkinson's disease (92 familial and 102 sporadic)										
132304	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Zou, H.  et al. 2004	15192821	(IVS3-20 T-->C)			Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Chinese		CDC GDPinfo	5071	Hs.132954			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):219-23	[New polymorphism (IVS3-20 T-->C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese]		602544	13057	2	2004	 The above results suggest that the parkin IVS3-20 T>C polymorphism might be a genetic risk factor for early-onset PD in Chinese.	Control:236:controls;Case:312 Chinese Parkinson's disease patients (including 99 early-onset PD patients and 213 late-onset PD:patients)										
132305		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Li, X.  et al. 2005	16269266				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		Japan	CDC GDPinfo	5071	Hs.132954			Parkinsonism & related disorders. 2005 Dec;11(8):485-91	Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's disease.		602544	13058	2	2005												
132298		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease|Cognition Disorders	6	6q25.2-q27	PARK2	161689661	163068790		Benbunan BR 2004	14714215				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			J Neural Transm. 2004 Jan;111(1):47-57	Parkin mutation associated parkinsonism and cognitive decline, comparison to early onset Parkinson's disease.		602544	4885	1	2004	 Our patients with parkin mutation performed poorly on neuropsychological tests compared to those with YOPD. This difference could reflect the longer disease duration or the nature of the degenerative process.											
132300	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Satoh J et al. 1999	10511432				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			Neuroreport. 1999 Sep;10(13):2735-9	Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.		602544	4887	1	1999	These observations suggest that the heterozygosity at codon 167 in the parkin gene might represent a genetic risk factor for development of sporadic PD.											
132301	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		West AB et al. 2002	12374768			promoter	Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			Human molecular genetics. 2002 Oct;11(22):2787-92	Functional association of the parkin gene promoter with idiopathic Parkinson's disease.		602544	4888	1	2002	Our results further implicate the parkin gene in the development of Parkinson's disease.											
132295	Y	leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Mira MT et al. Nature. 2004 Feb 12;427(6975):636-4	14737177				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Vietnamese, Brazilian	Brazil|Vietnam	KGB	5071	Hs.132954			Nature. 2004 Feb;427(6975):636-40	Susceptibility to leprosy is associated with PARK2 and PACRG.		602544	4882	1	2004	Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.	Control:controls;Case Leprosy cases:Brazil										
132296		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Lucking CB 2003	12975291				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			Archives of neurology. 2003 Sep;60(9):1253-6	Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.		602544	4883	1	2003	 Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.	Control:125:controls;Case:194 patients with Parkinson's disease (92 familial and 102 sporadic)										
132297		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Oliveira SA 2003	12873854				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			Archives of neurology. 2003 Jul;60(7):975-80	Association study of Parkin gene polymorphisms with idiopathic Parkinson disease.		602544	4884	1	2003	 These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD.											
132291	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	10	10q23-q24	PAPSS2	89409455	89497442		Ikeda, T.  et al. 2001	11558903				3'-phosphoadenosine 5'-phosphosulfate synthase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004670.3		Tokyo	CDC GDPinfo	9060	Hs.524491			Journal of human genetics. 2001 ;46(9):538-43	Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.		603005	13054	2	2001	Haplotype analysis showed no evidence of association with the two genes, however, excluding them as major susceptibility loci for knee OA.											
132292	Y	glucose tolerance; fatty acid	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypoglycemia	16	16q22.1	PARD6A	66252351	66254182		Weyrich, P.  et al. 2005	15744531	(-336A/G)		promoter	Par-6 partitioning defective 6 homolog alpha (C.elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016948.2			CDC GDPinfo	50855	Hs.112933			Diabetologia. 2005 Apr;48(4):669-74	A novel functional polymorphism (-336A/G) in the promoter of the partitioning-defective protein-6alpha gene is associated with increased glucose tolerance and lower concentrations of serum non-esterified fatty acids.		607484	13055	2	2005	A novel functional variant in the promoter of the Par6alpha gene is associated with reduced fasting glycaemia, increased glucose tolerance and reduced serum NEFA concentrations.	Cohort 664 non-diabetic subjects 										
132293	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q25.2-q27	PARK2	161689661	163068790		Lucking CB et al. 2000	10824074				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			The New England journal of medicine. 2000 May;342(21):1560-7	Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group.		602544	4880	1	2000	 Mutations in the parkin gene are a major cause of early-onset autosomal recessive familial Parkinson's disease and isolated juvenile-onset Parkinson's disease (at or before the age of 20 years). Accurate diagnosis of these cases cannot be based only on the clinical manifestations of the disease.											
132286	N	Parkinson disease	NEUROLOGICAL	NEUR	Parkinson Disease	20	20p13	PANK2	3815914	3817231		Klopstock T et al, 2005	15843062	T322A (L110Q); G377c (G126A) (rs3737084); A137T (D46V)	amino acid exchanges	coding sequence	Pantothenate kinase 2 (Hallervorden-Spatz syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153638.2	Caucasian		Thomas Klopstock, MD	80025	Hs.516859			Neuroscience letters. 2005 May;379(3):195-8	Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.		606157	6840	1	2005	We conclude that  PANK2 variants exert, if any, only a very small effect in the genetic risk of PD.	Cohort 339 late-onset idiopathic Parkinson's disease patients Cohort 67 Parkinson's disease patients with affected sibs or early-onset disease										
132287	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	20	20p13	PANK2	3815914	3817231		Klopstock, T.  et al. 2005	15843062				Pantothenate kinase 2 (Hallervorden-Spatz syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153638.2			CDC GDPinfo	80025	Hs.516859			Neuroscience letters. 2005 May;379(3):195-8	Mutations in the pantothenate kinase gene PANK2 are not associated with Parkinson disease.		606157	18815	2	2005	We conclude that  PANK2 variants exert, if any, only a very small effect in the genetic risk of PD.	Cohort 339 late-onset idiopathic Parkinson's disease patients Cohort 67 Parkinson's disease patients with affected sibs or early-onset disease 										
132289	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q21	PANX1	93501741	93554785	n	Wang L 2003	12958598				Pannexin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015368.3			KGB	24145	Hs.591976			Nature genetics. 2003 Oct;35(2):128-9	No association of germline alteration of MSR1 with prostate cancer risk.			6726	1	2003												
132283		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Song, F.  et al. 2005	15730960				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Chinese	China	CDC GDPinfo	5053	Hs.643451			Yi chuan. 2005 Jan;27(1):53-6	[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria]		261600	18814	2	2005	This study showed the mutation characteristics and their distribution in exon 7 of PAH gene and proved that the exon 7 was the hot region of PAH gene mutation in Chinese PKU population .	Cohort 147 unrelated Chinese children with phynelketonuria and their parents 										
132284		galactosemia; hyperphenylalaninaemia	METABOLIC	MET	Galactosemias|Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Zekanowski, C.  et al. 2001	11678552				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Polish	Poland	CDC GDPinfo	5053	Hs.643451			Journal of medical screening. 2001 ;8(3):132-6	Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience		261600	23199	2	2001	 Identification of mild or intermediate mutations causing HPA could provide fast and reliable information about future clinical outcome of a newborn infant. Molecular diagnosis of HPA should be preceded by biochemical analysis and implemented to differentiate mild forms of HPA and cases of ambiguous classification. Because of multiple rare mutations scattered on all exons, scanning of the entire PAH coding sequence could be useful and cost beneficial. Routine genotyping is not proposed in classic phenylketonuria and classic galactosaemia, as it provides limited additional, prospective information on the clinical phenotype.	Cohort 101 hyperphenylalaninaemic patients Cohort 77 patients with classic galactosaemia 										
132285	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	11	11q13-q14	PAK1	76710707	76862581		Wu, M. T.  et al. 2003	14607331				P21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002576.3	Taiwanese	Taiwan	CDC GDPinfo	5058	Hs.435714			Cancer letters. 2003 Nov;201(2):175-80	Association between p21 codon 31 polymorphism and esophageal cancer risk in a Taiwanese population.		602590	13052	2	2003	Although the sample size is relatively small, these findings suggest that a codon 31 polymorphism in p21 may be associated with the development of esophageal cancer.	Case:128 esophageal squamous cell carcinoma cases from two hospitals in southern Taiwan southern Taiwan;Control:178 controls from two hospitals in southern Taiwan										
132280		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Qiu, W. J.  et al. 2004	15192831				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1			CDC GDPinfo	5053	Hs.643451			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):261-3	[Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients]		261600	18811	2	2004	 DGGE is more sensitive than SSCP in screening the mutations of exon 12 of the PAH gene. DGGE combined with DNA sequencing can be used to define all the mutations of exon 12 of the PAH gene. These results indicate the similarity in the frequency of R413P mutation between northern and southern patients.	Cohort 127 patients with phenylketonuria (PKU) China 										
132281		phenylketonuria/PKU	METABOLIC	MET		12	12q22-q24.2	PAH	101756233	101835511		Zhang, Z.  et al. 2004	15300621				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Chinese		CDC GDPinfo	5053	Hs.643451			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):305-8	[Six novel mutations in PAH gene detected by sequencing]		261600	18812	2	2004	 M276K, M276R, 280insT, IVS10nt+32T-->A, IVS4nt+47C-->T were demonstrated as novel mutations in comparison with the PAH mutation database. One mission mutation (H290R) was first documented in Chinese PKU gene.	Control:30 normal controls;Case:40 phenylketonuria patients										
132282		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Desviat, L. R.  et al. 2004	15464430				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Spain	CDC GDPinfo	5053	Hs.643451			Molecular genetics and metabolism. 2004 Sep-Oct;83(2-Jan):157-62	Tetrahydrobiopterin responsiveness: results of theBH4 loading test in 31 Spanish PKU patients and correlation with their genotype.		261600	18813	2	2004	Genotype analysis confirms the involvement in the response of specific mutations (D415N, S87R, R176L, E390G, and A309V) present in hemizygous patients, and provide relevant information for the discussion of the potential mechanisms underlying BH(4) responsiveness.	Cohort 31 Spanish phenylalanine hydroxylase-deficient patients subjected to a BH(4) loading test 	tetrahydrobiopterin									
132277		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Brautigam, S.  et al. 2003	12649065				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1			CDC GDPinfo	5053	Hs.643451			Molecular genetics and metabolism. 2003 Mar;78(3):205-10	DHPLC mutation analysis of phenylketonuria.		261600	18808	2	2003	In this study we report the successful use of DHPLC to analyse rapidly the complete coding sequence of the PAH gene in a total of 125 unrelated patients with PKU.	Cohort 125 unrelated patients with PKU 										
132278		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Takarada, Y.  et al. 2003	12777691				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Japan	CDC GDPinfo	5053	Hs.643451			Molecular biotechnology. 2003 Jul;24(3):233-42	Rapid single-base mismatch detection in genotyping for phenylketonuria.		261600	18809	2	2003	This instrument can automatically detect mutations through the use of allelespecific oligonucleotide (ASO) capture probes, and gave results comparable to those of sequencing studies. Each country has uniquely prevalent and specific mutations causing PKU, and less than 50 types of such mutations are generally present in each country. Early genotyping of PKU makes it possible to identify the phenotype and select the optimal therapy for the disease. For early genotyping, the instrumental method described here shortens the time required for genotyping based on mRNA and/or genomic DNA of PKU parents.	Cohort 31 PKU patients 										
132279		phenylketonuria/PKU	METABOLIC	MET	Phenylketonurias|Phenylketonuria, Maternal	12	12q22-q24.2	PAH	101756233	101835511		Guttler, F.  et al. 2003	14654659				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1			CDC GDPinfo	5053	Hs.643451			Pediatrics. 2003 Dec;112(6 Pt 2):1530-3	Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.		261600	18810	2	2003	 Female individuals with severe PKU should be offered a diet for a lifetime. If good metabolic control is established, then women with PKU will have children with IQ scores that are not influenced by their disease.	Cohort 196 maternal PKU subjects and their offspring 										
132274		hyperphenylalaninaemia	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		O'Donnell, K. A.  et al. 2002	12173030				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Irish, Scottish	Northern Ireland|Scotland|Ireland	CDC GDPinfo	5053	Hs.643451			European journal of human genetics. 2002 Sep;10(9):530-8	The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history ofthe Irish revisited.		261600	18805	2	2002	An analysis of mutant allele distributions in Ulster, Scotland and the rest of Ireland confirmed that Ulster has been a zone of considerable admixture between the Irish and Scottish populations, indicating a proportion of Scottish admixture in Ulster approaching 46%. Mutations primarily associated with Scandinavia accounted for 6.1% of mutations overall, illustrating the influence of Viking incursions on Irish population history.	Cohort the four historic provinces (Munster, Leinster, Connacht and Ulster) 										
132275		phenylalanine hydroxylase deficiency	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Verduci, E.  et al. 2002	12200907				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Italy	CDC GDPinfo	5053	Hs.643451			Acta Paediatr. 2002 ;91(7):805-10	Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency.		261600	18806	2	2002	 Although the great heterogeneity of PAH mutations limits any general conclusion, the results suggest that monitoring plasma Tyr variations may be more sensitive than plasma Phe in assessing the severity of PAH mutations in HPA heterozygotes.	Case:25 arents of patients affected by PAH deficiency detected through the Italian Neonatal Screening:Program:Italy:1994-2000;Control:68 parents of healthy children (34 hyperphenylalaninaemia heterozygous parents and 34 age- and gender-matched controls)										
132276		phenylalanine hydroxylase deficiency	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Kasnauskiene, J.  et al. 2003	12640344				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Lithuania	CDC GDPinfo	5053	Hs.643451			Medical science monitor. 2003 Mar;9(3):CR142-6	Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients fromLithuania.		261600	18807	2	2003	 The results obtained confirm that methods of functional hemizygosity and AV sum are applicable for the estimation of the genotype-phenotype correlation in the investigated group of PKU/MHP patients.	Cohort 92 unrelated patients with PKU and hyperphenylalaninemia Lithuania 										
132271		intragenic polymorphic markers	OTHER	OTH	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Perez B et al. 1997	8981952				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Spanish	Spain	KGB	5053	Hs.643451			American journal of human genetics. 1997 Jan;60(1):95-102	Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.		261600	4843	1	1997												
132272		phenylketonuria	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Song, L.  et al. 2001	11172645				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1			CDC GDPinfo	5053	Hs.643451			Zhonghua yi xue yi chuan xue za zhi. 2001 Feb;18(1):56-8	[A study of phenylketonuria heterozygotes screening in married population of Tianjin area]		261600	18802	2	2001	 The biochemical method mentioned above is available for use in screening PKU heterozygotes.	Cohort 2023 2023 married people Tianjin 										
132273		phenylketonuria	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Yang, Y.  et al. 2001	11385716				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Texas	CDC GDPinfo	5053	Hs.643451			Human mutation. 2001 Jun;17(6):523	Molecular analysis of phenylketonuria (PKU) in newborns from Texas.		261600	18803	2	2001	For this population, exons 12, 11, 7, 5 and 8, which carry 78% of the mutations, would have to be screened first. However, the other exons must be studied when either one or no mutations are found in the primary screening.	Cohort 40 patients with the diagnosis of classic PKU (n=18), hyperphenylalaninemia (HPA) variant (n=9) and benign persistent hyperphenylalaninemia (HPA) (n=13) who were identified by the Texas Newborn Screening Program. 										
132267		C-reactive protein; kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	17	17p13.3	PAFAH1B1	2443685	2535638		Minami, T.  et al. 2005	16027700				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2		Japan	CDC GDPinfo	5048	Hs.77318			The Journal of pediatrics. 2005 Jul;147(1):78-83	A polymorphism in plasma platelet-activating factor acetylhydrolase is involved in resistance to immunoglobulin treatment in Kawasaki disease.		601545	13051	2	2005	 We conclude that the V279F polymorphism in the plasma PAF-AH gene and consequent enzymatic deficiency is one of the factors for IVIG nonresponse in Japanese patients with acute KD.											
132269	Y	phenylketonuria	METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Hertzberg M et al. 1989	2563633				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Polynesia	KGB	5053	Hs.643451			American journal of human genetics. 1989 Mar;44(3):382-7	Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.		261600	4841	1	1989												
132270		PKU	OTHER	OTH	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Wang T et al. 1990	2309142				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1		Europe, Eastern	KGB	5053	Hs.643451			Somatic cell and molecular genetics. 1990 Jan;16(1):85-90	Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.		261600	4842	1	1990												
132264		Asthma	IMMUNE	IMM	Asthma	17	17p13.3	PAFAH	1194589	1250267		Stafforini 1999	10194471	Val279Phe			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430		Japan	KCB	5048	Hs.513851			The Journal of clinical investigation. 1999 Apr;103(7):989-97			601690	4840	1	1999	We conclude that  the PAF acetylhydrolase gene is a modulating locus for the severity of asthma.											
132265	Y	graft occlusion, atherosclerotic	IMMUNE	IMM	Arterial Occlusive Diseases|Graft Occlusion, Vascular	17	17p13.3	PAFAH1B1	2443685	2535638		Unno, N.  et al. 2002	12110797	(G994-->T)			Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2			CDC GDPinfo	5048	Hs.77318			Surgery. 2002 Jul;132(1):66-71	Single nucleotide polymorphism (G994-->T) in the plasma platelet-activating factor-acetylhydrolase gene is associated with graft patency of femoropopliteal bypass.		601545	13049	2	2002	 The SNP of plasma PAF-AH was associated with a decreased primary graft patency of above-knee femoropopliteal bypass. The risk of graft failure may increase when patients have the SNP. To confirm the independent risk of graft failure by the SNP, further study is necessary and prospective study should be performed.	Cohort 50 patients with above-knee femoropopliteal bypass grafting 										
132266	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Neuromyelitis Optica	17	17p13.3	PAFAH1B1	2443685	2535638		Osoegawa, M.  et al. 2004	15081260				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2	Japanese		CDC GDPinfo	5048	Hs.77318			Journal of neuroimmunology. 2004 May;150(2-Jan):150-6	Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis.		601545	13050	2	2004	These findings suggest that the PAF-AH gene missense mutation has no relation to either susceptibility or severity of C-MS, yet its activity is down-regulated, and that the mutation has no relation with susceptibility of OS-MS, yet it may confer the severity of female OS-MS.	Control:213 healthy controls;Case:216/151 Japanese patients with clinically definite MS (65 opticospinal MS (n=216) and conventional MS (n=151)										
132260	N	Atopy. asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	n	Kruse S 2000	10733466	Ile198Thr			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	German		KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4836	1	2000												
132261	Y	Total IgE. atopic asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	P=0.009. 0.008	Kruse S 2000	10733466	Ile198Thr			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430			KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4837	1	2000												
132262	N	Atopy. spIgE. total IgE. asthma. atopic asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	n	Kruse S 2000	10733466	Arg92His			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	German		KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4838	1	2000												
132263	N	Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	n	Kruse S 2000	10733466	Ala379Val			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	German		KGB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4839	1	2000												
132256		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	17	17p13.3	PAFAH	1194589	1250267		Yamada Y 2001	11501940	G994 --> T (Val279 --> Phe)			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430		Japan	KGB	5048	Hs.513851			Journal of human genetics. 2001 ;46(8):436-41			601690	4832	1	2001												
132257	Y	Asthma. atopy. spIgE.	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	P=0.003	Kruse S 2000	10733466	Ala379Val			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	German		KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4833	1	2000												
132258	Y	Total IgE. atopic asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	P=0.009. 0.008	Kruse S 2000	10733466	Ile198Thr			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	German		KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4834	1	2000												
132259	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	p= 0.003	Kruse S 2000	10733466	Arg92His (exon 4). Ile198Thr (exon 7). and Ala379Val (exon 11)	Thr198 and Val379 influence plasmatic PAFAH toward lower substrate affinities and therefore are very likely to prolong the activities of PAF	coding sequence	platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430			KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4835	1	2000												
132252	Y	Asthma. atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease|	17	17p13.3	PAFAH	1194589	1250267	P=0.003	Kruse S 2000	10733466	Ala379Val			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430			KCB	5048	Hs.513851			American journal of human genetics. 2000 May;66(5):1522-30			601690	4828	1	2000												
132253		Severe asthma	IMMUNE	IMM	Asthma	17	17p13.3	PAFAH	1194589	1250267		Satoh N 1999	10051281	Val279Phe			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430	Japanese	Japan	KCB	5048	Hs.513851			American journal of respiratory and critical care medicine. 1999 Mar;159(3):974-9			601690	4829	1	1999												
132254		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Hypercholesterolemia|Inflammation	17	17p13.3	PAFAH	1194589	1250267		Packard CJ 2000	11036120				platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430			KGB	5048	Hs.513851			The New England journal of medicine. 2000 Oct;343(16):1148-55			601690	4830	1	2000	 Inflammatory markers are predictors of the risk of coronary events, but their predictive ability is attenuated by associations with other coronary risk factors. Elevated levels of lipoprotein-associated phospholipase A2 appear to be a strong risk factor for coronary heart disease, a finding that has implications for atherogenesis and the assessment of risk.											
132249		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Ikari, K.  et al. 2005	16200584				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1		Japan	CDC GDPinfo	23569	Hs.522969			Arthritis and rheumatism. 2005 Oct;52(10):3054-7	Association between PADI4 and rheumatoid arthritis:a replication study.		605347	18799	2	2005	 Replication of association in individual samples strongly suggests that PADI4 is a true susceptibility gene for RA.											
132250	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082			16385500				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Korean		CDC GDPinfo	23569	Hs.522969			Arthritis and rheumatism. 2006 Jan;54(1):90-6	A functional haplotype of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Koreans		605347	18800	2	2005	 The PADI4 SNPs and haplotypes are associated with RA susceptibility in Koreans. Thus, the association of PADI4 with RA may depend on genetic heterogeneity between Asians and Europeans.											
132251		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082			16380915				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Swedish	North America|Sweden	CDC GDPinfo	23569	Hs.522969			American journal of human genetics. 2005 Dec;77(6):1044-60	Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association ofSusceptibility with PTPN22, CTLA4, and PADI4		605347	23198	2	2005												
132245		rheumatoid arthritis; Crohn's disease; diabetes, type 1; celiac disease	IMMUNE	IMM	Autoimmune Diseases|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Mori, M.  et al. 2005	15883854				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDPinfo	23569	Hs.522969			Journal of human genetics. 2005 ;50(5):264-6	Ethnic differences in allele frequency of autoimmune-disease-associated SNPs.		605347	13764	2	2005	Our data suggest that ethnic variations of polymorphisms should be evaluated in detail, and differences should be incorporated into investigations of susceptibility variants for common diseases.	Cohort individuals from Caucasian, African-descent, and Japanese populations. 										
132246	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Barton, A.  et al. 2004	15077293				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Japanese	Japan|Great Britain	CDC GDPinfo	23569	Hs.522969			Arthritis and rheumatism. 2004 Apr;50(4):1117-21	A functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom population		605347	18796	2	2004	 A PADI4 susceptibility haplotype associated with RA in a Japanese population is not associated with RA in a UK population. Other genes involved in the citrullinating pathway remain strong candidate RA-susceptibility genes and require further investigation.	Control:481 population controls;Case:839 unrelated Caucasian RA patients from the UK										
132242	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Barton A 2004	15077293			haplotype	Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Japanese	Japan|Great Britain	KGB	23569	Hs.522969			Arthritis and rheumatism. 2004 Apr;50(4):1117-21	A functional haplotype of the PADI4 gene associated with rheumatoid arthritis in a Japanese population is not associated in a United Kingdom population.		605347	6721	1	2004	 A PADI4 susceptibility haplotype associated with RA in a Japanese population is not associated with RA in a UK population. Other genes involved in the citrullinating pathway remain strong candidate RA-susceptibility genes and require further investigation.	Control:481 population controls;Case:839 unrelated Caucasian RA patients from the UK										
132243	N	polyarthritis	OTHER	OTH	Arthritis|Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Barton, A.  et al. 2005	15731287				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDPinfo	23569	Hs.522969			Annals of the rheumatic diseases. 2005 Sep;64(9):1311-5	Investigation of polymorphisms in the PADI4 gene in determining severity of inflammatory polyarthritis.		605347	13047	2	2005	 No evidence was found for association of the PADI4 gene with severity as assessed by erosive outcome at five years or with presence of anti-CCP antibodies in patients with IP.	Cohort 438 inflammatory polyarthritis patients from the NOAR inception cohort 										
132244	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Martinez, A.  et al. 2005	15998632				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Spanish		CDC GDPinfo	23569	Hs.522969			Rheumatology (Oxford, England). 2005 Oct;44(10):1263-6	PADI4 polymorphisms are not associated with rheumatoid arthritis in the Spanish population.		605347	13048	2	2005	 The results of our group and from the British and French studies strongly suggest that polymorphisms of the PADI4 gene do not play a role in susceptibility to RA in European populations.											
132239	Y	hematology indices	HEMATOLOGICAL	HEM		3	3q24-q25	P2RY12	152538065	152585234		Hetherington, S. L.  et al. 2004	15514209				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDPinfo	64805	Hs.591281			Arteriosclerosis, thrombosis, and vascular biology. 2005 Jan;25(1):252-7	Dimorphism in the P2Y1 ADP Receptor Gene Is Associated With Increased Platelet Activation Response to ADP		600515	23197	2	2004	 A common genetic variant at the P2Y1 locus is associated with platelet reactivity to ADP. This genotype effect partly explains the interindividual variation in platelet response to ADP and may have clinical implications with regard to thrombotic risk.	Cohort 200 subjects 										
132240		Muscular Dystrophy, oculopharyngeal	DEVELOPMENTAL	DEV	Muscular Dystrophies	14	14q11.2-q13	PABPN1	22845875	22865209		Hill, M. E.  et al. 2001	11222452				Poly(A) binding protein, nuclear 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004643.1		Great Britain	CDC GDPinfo	8106	Hs.117176			Brain. 2001 Mar;124(Pt 3):522-6	Oculopharyngeal muscular dystrophy: Phenotypic andgenotypic studies in a UK population		602279	18793	2	2001	We conclude that  PABP2 analysis is a reliable non-invasive diagnostic test for OPMD in the UK population.	Control:200 normal controls:UK;Case:31 patients with Oculopharyngeal muscular dystrophy:(OPMD):UK										
132241	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.13	PADI4	17507278	17563082	P = 0.000008	Suzuki A 2003	12833157	Among the SNPs that segregate haplotype 1 and haplotype 2, four were exonic and three of them involved amino acid substitutions: padi4_89, padi4_90, padi4_92 and padi4_104, resulting in G55S, V82A, G112A and L117L, respectively			Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Japanese		KGB	23569	Hs.522969	levels of antibody to citrullinated filaggrin in sera of individuals with rheumatoid arthritis		Nature genetics. 2003 Aug;34(4):395-402	Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.		605347	6720	1	2003		Case:830; Control:736										
132236	N	platelet aggregation	HEMATOLOGICAL	HEM	Coronary Artery Disease	3	3q24-q25	P2RY12	152538065	152585234		Angiolillo, D. J.  et al. 2005	16181985				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDPinfo	64805	Hs.591281			Thrombosis research. 2005 ;116(6):491-7	Lack of association between the P2Y12 receptor gene polymorphism and platelet response to clopidogrel in patients with coronary artery disease.		600515	13045	2	2005	 The T744C polymorphism of the P2Y(12) receptor gene does not modulate platelet response to clopidogrel either in the early or long-term phases of treatment. This specific gene polymorphism alone is therefore unlikely to be the cause of variability in individual response to antiplatelet therapy.		clopidogrel									
132237	Y	peripheral vascular disease	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	3	3q24-q25	P2RY12	152538065	152585234		Fontana, P.  et al. 2003	14662702				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDPinfo	64805	Hs.591281			Circulation. 2003 Dec;108(24):2971-3	P2Y12 H2 haplotype is associated with peripheral arterial disease: a case-control study.		600515	18790	2	2003	 These data point to a role of the H2 haplotype in atherosclerosis and raise the possibility of relative thienopyridine resistance in carriers of the P2Y12 H2 haplotype.	Case:184 consecutive male patients under 70 years of age with peripheral arterial disease;Control:330 matched control subjects free of symptomatic peripheral arterial disease and with no cardiovascular history										
132238	N	hematology indices	HEMATOLOGICAL	HEM	Coronary Disease	3	3q24-q25	P2RY12	152538065	152585234		von Beckerath, N.  et al. 2005	15795539				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDPinfo	64805	Hs.591281			Blood coagulation & fibrinolysis. 2005 Apr;16(3):199-204	P2Y12 gene H2 haplotype is not associated with increased adenosine diphosphate-induced platelet aggregation after initiation of clopidogrel therapy with a high loading dose.		600515	18792	2	2005	Carriage of P2Y12 H2 haplotype does not seem to affect the platelet response to a 600 mg loading dose of clopidogrel in coronary artery disease patients prior to stenting.	Cohort 416 patients scheduled for coronary artery stenting 	clopidogrel									
132233	Y	Adenosine diphosphate-induced platelet aggregation	NORMALVARIATION	NV		3	3q24-q25	P2RY12	152538065	152585234		Fontana P 2003	12912815				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			KGB	64805	Hs.591281			Circulation. 2003 Aug;108(8):989-95	Adenosine diphosphate-induced platelet aggregation is associated with P2Y12 gene sequence variations in healthy subjects.		600515	6836	1	2003	 In healthy subjects, ADP-induced platelet aggregation is associated with a haplotype of the P2Y12 receptor gene. Given the crucial role of the P2Y12 receptor in platelet functions, carriers of the H2 haplotype may have an increased risk of atherothrombosis and/or a lesser clinical response to drugs inhibiting platelet function.											
132234		injured arteries.	OTHER	OTH	Thrombosis	3	3q24-q25	P2RY12	152538065	152585234		Andre P 2003	12897207				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			KGB	64805	Hs.591281	platelet adhesion/activation, thrombus growth~~~ and thrombus stability		The Journal of clinical investigation. 2003 Aug;112(3):398-406	P2Y12 regulates platelet adhesion/activation, thrombus growth~~~ and thrombus stability in injured arteries.		600515	6837	1	2003												
132235	Y	heart disease, ischemic; peripheral vascular disease	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Ischemia|Peripheral Vascular Diseases|Genetic Predisposition to Disease	3	3q24-q25	P2RY12	152538065	152585234		Ziegler, S.  et al. 2005	15933261				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDPinfo	64805	Hs.591281			Stroke; a journal of cerebral circulation. 2005 Jul;36(7):1394-9	Association of a functional polymorphism in the clopidogrel target receptor gene, P2Y12, and the risk for ischemic cerebrovascular events in patients with peripheral artery disease.		600515	13044	2	2005	 In PAD patients, clopidogrel response variability exists, which may result in increased risk for cerebrovascular events. Sequence alterations of the target receptor gene represent one possible mechanism for clopidogrel failure. Whether identification of the 34C>T polymorphism as a contributor to this process could serve as risk stratification tool, an indicator for higher clopidogrel doses, or the use of alternate agents warrants further investigation.	Cohort 137 patients undergoing antiplatelet therapy with clopidogrel Cohort 336 patients undergoing antiplatelet therapy with aspirin 	aspirin clopidogrel									
132229		leukemia, lymphoid	CANCER	CAN		12	12q24	P2RX7	120055060	120108241		Skarratt, K. K.  et al. 2005	15862308			intron	Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4	Caucasian		CDC GDPinfo	5027	Hs.507102			FEBS letters. 2005 May;579(12):2675-8	A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.		602566	13042	2	2005												
132231	Y	hematology indices	HEMATOLOGICAL	HEM		3	3q25.2	P2RY1	154035425	154038533		Hetherington, S. L.  et al. 2004	15514209				Purinergic receptor P2Y, G-protein coupled, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002563.2			CDC GDPinfo	5028	Hs.79881			Arteriosclerosis, thrombosis, and vascular biology. 2005 Jan;25(1):252-7	Dimorphism in the P2Y1 ADP Receptor Gene Is Associated With Increased Platelet Activation Response to ADP		601167	18791	2	2004	 A common genetic variant at the P2Y1 locus is associated with platelet reactivity to ADP. This genotype effect partly explains the interindividual variation in platelet response to ADP and may have clinical implications with regard to thrombotic risk.	Cohort 200 subjects 										
132232	Y	peripheral arterial disease	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	3	3q24-q25	P2RY12	152538065	152585234		Fontana P 2003	14662702				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			KGB	64805	Hs.591281			Circulation. 2003 Dec;108(24):2971-3	P2Y12 H2 haplotype is associated with peripheral arterial disease: a case-control study.		600515	6835	1	2003	 These data point to a role of the H2 haplotype in atherosclerosis and raise the possibility of relative thienopyridine resistance in carriers of the P2Y12 H2 haplotype.	Case:184 consecutive male patients under 70 years of age with peripheral arterial disease;Control:330 matched control subjects free of symptomatic peripheral arterial disease and with no cardiovascular history										
132226	N	leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Disease Progression|Genetic Predisposition to Disease	12	12q24	P2RX7	120055060	120108241		Starczynski, J.  et al. 2003	14510944	1513 A-->C			Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDPinfo	5027	Hs.507102			British journal of haematology. 2003 Oct;123(1):66-71	The P2X7 receptor gene polymorphism 1513 A-->C has no effect on clinical prognostic markers, in vitro sensitivity to fludarabine, Bcl-2 family protein expression or survival in B-cell chronic lymphocytic leukaemia.		602566	13039	2	2003	These results indicate that the 1513 A-->C polymorphism of the P2X7 gene is unlikely to play a significant role in the pathogenesis or disease progression of B-CLL.	Control normal healthy controls;Case:121 patients with B-cell chronic lymphocytic leukaemia										
132227	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Disease Progression	12	12q24	P2RX7	120055060	120108241		Nuckel, H.  et al. 2004	15089763	1513 A-->C			Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDPinfo	5027	Hs.507102			European journal of haematology. 2004 Apr;72(4):259-63	1513A/C polymorphism in the P2X7 receptor gene in chronic lymphocytic leukemia: absence ofcorrelation with clinical outcome.		602566	13040	2	2004	In conclusion, our data do not support a role of the P2X7 genotype as a prognostic marker in B-cell CLL.	Case:111 patients with chronic lymphocytic leukemia;Control:97 healthy controls										
132228	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Genetic Predisposition to Disease	12	12q24	P2RX7	120055060	120108241		Sellick, G. S.  et al. 2004	15184265	1513 A-->C			Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4		Great Britain	CDC GDPinfo	5027	Hs.507102			Cancer epidemiology, biomarkers & prevention. 2004 Jun;13(6):1065-7	The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia.		602566	13041	2	2004	Allele frequencies were identical in cases and controls irrespective of whether cases were familial or sporadic	Case:424 chronic lymphocytic leukemia cases;Control:428 healthy controls										
132221		Response heterogeneity of human macrophages to ATP	OTHER	OTH		12	12q24	P2RX7	120055060	120108241		Li CM et al. 2002	12417299			promoter.	Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			KGB	5027	Hs.507102			FEBS letters. 2002 Nov;531(2):127-31	Response heterogeneity of human macrophages to ATP is associated with P2X7 receptor expression but not to polymorphisms in the P2RX7 promoter.		602566	4825	1	2002												
132222	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q24	P2RX7	120037915	120038299		Li CM et al. 2002	12404161				purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562	Gambian	Gambia	KGB	5027	Hs.507102			The Journal of infectious diseases. 2002 Nov;186(1	Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population.		602566	4826	1	2002												
132224		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic	12	12q24	P2RX7	120055060	120108241		Thunberg, U.  et al. 2002	12493261				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDPinfo	5027	Hs.507102			Lancet. 2002 Dec;360(9349):1935-9	Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia.		602566	13037	2	2002	The P2X7 polymorphism could affect clinical outcome in CLL, especially in patients with mutated V(H) genes. Studies are necessary to elucidate the biological role of the P2X7 polymorphism in CLL in vivo.	Case:165 chronic lymphocytic leukemia patients;Control:200 healthy controls										
132217	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q44	OR13G1	245902042	245902966		Shiffman, D.  et al. 2005	16175505			coding sequence	Olfactory receptor, family 13, subfamily G, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005487.1			CDC GDPinfo	441933	Hs.553834			American journal of human genetics. 2005 Oct;77(4):596-605	Identification of four gene variants associated with myocardial infarction.	rs1151640		19759	2	2005												
132219		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	3	3p25	OXTR	8767094	8786300		Wu, S.  et al. 2005	15992526				Oxytocin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000916.3	Chinese	China	CDC GDPinfo	5021	Hs.2820			Biological psychiatry. 2005 Jul;58(1):74-7	Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population.		167055	18788	2	2005	 These data suggest an involvement of OXTR in the susceptibility to autism, and replication is important.											
132220		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12q24.32	P2RX4	120132046	120156292		Iwai, N.  et al. 2004	15167446				Purinergic receptor P2X, ligand-gated ion channel, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002560.2	Japanese	Japan	CDC GDPinfo	5025	Hs.321709			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		600846	28470	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
132213		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Santangelo, S. L.  et al. 2005	16020311				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Swedish	Sweden	CDC GDPinfo	10133	Hs.332706			Ophthalmic genetics. 2005 Jun;26(2):85-9	Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.		602432	18784	2	2005	 These experiments show no association between optineurin and our Swedish cohorts of high-pressure glaucoma cases, either in coding sequence or in haplotype frequency and distribution.											
132215		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282			16358725				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDPinfo	10133	Hs.332706			Genetika. 2005 Nov;41(11):1567-74	[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]		602432	23196	2	2005												
132216	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282	0.0008	Fan, B. J.  et al. 2005	16148883	c.102G>A	T34T	coding sequence	Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Southern Chinese	Hong Kong	CDC GDPinfo	10133	Hs.332706	glaucoma, normal tension		Molecular vision [electronic resource]. 2005 Aug;11:625-31	SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.	rs2234968	602432	25405	2	2005	 Disease-causing mutations in MYOC and OPTN accounted for only a small proportion of Chinese POAG patients. Common polymorphisms in MYOC, OPTN, and APOE might interactively contribute to POAG, indicating a polygenic etiology.	Case:400 unrelated POAG patients (294 HTG, 106 NTG);Control:281 control subjects without glaucoma over 50 years of age										
132210		glaucoma, primary open-angle	VISION	VIS	Glaucoma|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Toda, Y.  et al. 2004	14755458				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Japanese	Japan	CDC GDPinfo	10133	Hs.332706			American journal of medical genetics Part A. 2004 Feb;125(1):4-Jan	Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.		602432	18781	2	2004	The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes.	Case:165 unrelated Japanese glaucoma patients;Control:196 control subjects without glaucoma										
132211		glaucoma; glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Fuse, N.  et al. 2004	15226658				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Japanese	Japan	CDC GDPinfo	10133	Hs.332706			Journal of glaucoma. 2004 Aug;13(4):299-303	Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.		602432	18782	2	2004	 The association of the allelic variation (Met98Lys) in the OPTN gene and the prevalence of POAG and NTG in unrelated Japanese patients suggest that they are involved in the pathogenesis of POAG and NTG.	Control:100 ethnically matched controls;Case:89/65 unrelated Japanese patients with primary open-angle glaucoma (n=89) and normal tension glaucoma (n=65)										
132212	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Baird, P. N.  et al. 2004	15498064				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1		New South Wales	CDC GDPinfo	10133	Hs.332706			Clinical & experimental ophthalmology. 2004 Oct;32(5):518-22	Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the BlueMountains Eye Study		602432	18783	2	2004	 Cross-sectional analysis from baseline observations of the BMES suggested that the M98K risk-associated allele appeared at a higher prevalence in high-tension glaucoma compared with controls, although this finding was not statistically significant.	Case:108 subjects of Caucasian origin identified at baseline in the Blue Mountains Eye Study as having open-angle glaucoma;Control:94 controls chosen at random										
132207	Y	glaucoma, primary open-angle; glaucoma, normal tension	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	10	10p13	OPTN	13181454	13220282		Funayama, T.  et al. 2004	15557444				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Japanese		CDC GDPinfo	10133	Hs.332706			Investigative ophthalmology & visual science. 2004 Dec;45(12):4359-67	Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.		602432	13034	2	2004	 These findings demonstrated that the OPTN gene is associated with POAG rather than NTG in the Japanese. Statistical analysis showed a possible interaction between polymorphisms in the OPTN and the TNF-alpha genes that would increase the risk for glaucoma.	Case:194/217 Japanese patients with primary open-angle glaucoma (n=194) and with normal-tension glaucoma (n=217);Control:218 controls with no eye disease										
132208	Y	glaucoma	VISION	VIS	Glaucoma|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Tang, S.  et al. 2003	12811537				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Japanese	Japan	CDC GDPinfo	10133	Hs.332706			Human genetics. 2003 Aug;113(3):276-9	The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.		602432	18779	2	2003	No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.	Case:148/165 unrelated Japanese patients with normal tension glaucoma (n=148) and patients with primary open-angle glaucoma (n=165);Control:196 unrelated controls										
132209	N	glaucoma	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Wiggs, J. L.  et al. 2003	12912697				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDPinfo	10133	Hs.332706			Archives of ophthalmology. 2003 Aug;121(8):1181-3	Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma.		602432	18780	2	2003	 The mutations in the optineurin gene associated with normal-tension glaucoma are not associated with adult-onset primary open-angle glaucoma in this patient population.Clinical Relevance Genetic abnormalities that render the optic nerve susceptible to degeneration are excellent candidates for genetic factors that could contribute to adult-onset primary open-angle glaucoma. Mutations in optineurin have been associated with normal-tension glaucoma, but are not associated with disease in patients with adult-onset primary open-angle glaucoma. This result may indicate that normal-tension glaucoma is not necessarily part of the phenotypic spectrum of adult open-angle glaucoma.	Control:80 age-matched controls;Case:86 probands with adult-onset primary open-angle:glaucoma										
132203		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9p13.3	OPRS1	34624718	34627768			16319298				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2			CDC GDPinfo	10280	Hs.522087			The American journal of geriatric psychiatry. 2005 Dec;13(12):1062-6	A variant of the sigma receptor type-1 gene is a protective factor for Alzheimer disease		601978	18778	2	2005	 The present study suggests that the TT-241-240P2 haplotype of the SIGMAR1 gene, which decreases expression of the gene, may have a protective role against susceptibility to AD.											
132205	Y	primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282	0.02	Leung YF 2003	12939304	IVS7+24G>A	Intron	other	Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Southern Chinese	Hong Kong	KGB	10133	Hs.332706			Investigative ophthalmology & visual science. 2003 Sep;44(9):3880-4	Different optineurin mutation pattern in primary open-angle glaucoma.	rs11258211	602432	6653	1	2003	 The findings in the current study enrich the evidence on the OPTN gene as a causative gene for POAG and suggest a different mutation pattern of OPTN in Chinese than in whites. The wide spectrum of putative mutations detected in this study suggests that both structural and functional disruptions in OPTN may contribute to the pathogenesis of glaucoma.	Case:119 unrelated POAG patients;Control:126 unrelated control subjects without glaucoma over 50 years of age										
132206	N	normal tension glaucoma	VISION	VIS	Glaucoma|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282	n	Tang S 2003	12811537				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Japanese	Japan	KGB	10133	Hs.332706			Human genetics. 2003 Aug;113(3):276-9	The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.		602432	6654	1	2003	No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.	Case:148/165 unrelated Japanese patients with normal tension glaucoma (n=148) and patients with primary open-angle glaucoma (n=165);Control:196 unrelated controls										
132199	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Personality Disorders	9	9p13.3	OPRS1	34624718	34627768		Miyatake, R.  et al. 2004	14706429				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2		Japan	CDC GDPinfo	10280	Hs.522087			Biological psychiatry. 2004 Jan;55(1):85-90	Functional polymorphisms in the sigma1 receptor gene associated with alcoholism.		601978	13032	2	2004	The T-485A and the GC-241-240TT may be functional polymorphisms, and the A-485 allele and TT-241-240/Pro2 haplotype are possible protective factors for the development of alcoholism.	Control:302 control subjects;Case:307 alcoholic subjects										
132200	N	methamphetamine abuse; psychoses	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	9	9p13.3	OPRS1	34624718	34627768		Inada, T.  et al. 2004	15542696				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2	Japanese		CDC GDPinfo	10280	Hs.522087			Annals of the New York Academy of Sciences. 2004 Oct;1025:27-33	No association found between the type 1 sigma receptor gene polymorphisms and methamphetamine abuse in the Japanese population: a collaborativestudy by the Japanese Genetics Initiative for Drug Abuse.		601978	13033	2	2004	This study suggests that type 1 sigma receptor gene is unlikely to play a major role in substance abuse liability and/or the development of MAP psychosis.	Case:143 methamphetamine abusers;Control:181 healthy controls										
132201	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia|Schizophrenia, Disorganized|Schizophrenia, Paranoid	9	9p13.3	OPRS1	34624718	34627768		Uchida, N.  et al. 2003	14567761				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2			CDC GDPinfo	10280	Hs.522087			BMC psychiatry [electronic resource]. 2003 Oct;3:13	No association between the sigma receptor type 1 gene and schizophrenia: results of analysis andmeta-analysis of case-control studies.		601978	18776	2	2003	 In view of this evidence, it is likely that the SIGMAR1 gene does not confer susceptibility to schizophrenia.	Case:636:schizophrenics;Control:779:controls										
132195	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Kim, S. A.  et al. 2004	15902904				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Korean		CDC GDPinfo	4988	Hs.2353			Alcohol (Fayetteville, NY). 2004 Oct-Nov;34(3-Feb):115-20	Association of polymorphisms in nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4), mu-opioid receptor gene (OPRM1), and ethanol-metabolizing enzyme genes with alcoholism in Korean patients.		600018	23195	2	2004	The polymorphisms of ADH2, ALDH2, and CYP2E1 were significantly different in Korean patients with alcoholism and Korean control subjects without alcoholism, but ADH3 and OPRM1 did not differ between the two groups.	Case:127 Korean patients with alcoholism;Control:185 subjects without alcoholism										
132196	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Loh el, W.  et al. 2004	14745298				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Taiwanese	Taiwan	CDC GDPinfo	4988	Hs.2353			Alcoholism, clinical and experimental research. 2004 Jan;28(1):15-9	Endogenous opioid receptor genes and alcohol dependence among Taiwanese Han.		600018	25404	2	2004	 Our findings do not support a possible role of the opioid receptor genes for the proclivity to alcohol dependence in the Taiwanese Han.	Control:149:controls;Case:158 Han alcohol-dependent subjects:Taiwan										
132197		schizophrenia	PSYCH	PSY	Schizophrenia	9	9p13.3	OPRS1	34624718	34627768		Ohmori O et al. 2000	10686564	T-241/T-240			opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2			KGB	10280	Hs.522087			American journal of medical genetics. 2000 Feb;96(1):118-22	Polymorphisms of the sigma(1) receptor gene in schizophrenia: An association study.			6658	1	2000												
132198	Y	schizophrenia	PSYCH	PSY	Schizophrenia	9	9p13.3	OPRS1	34624718	34627768		Ishiguro H et al. 1998	9857962				opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2			KGB	10280	Hs.522087			Neuroscience letters. 1998 Nov;257(1):45-8	Association between polymorphisms in the type 1 sigma receptor gene and schizophrenia.			6659	1	1998												
132191		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Kim, S. G.  et al. 2004	15252283				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Korean		CDC GDPinfo	4988	Hs.2353			Alcoholism, clinical and experimental research. 2004 Jul;28(7):986-90	Association of functional opioid receptor genotypes with alcohol dependence in Koreans.		600018	18774	2	2004	 These results suggest that having one or two copies of the A118G allele is common among Koreans and may be an important genetic factor in the etiology of alcohol dependence and the frequency of alcohol consumption.	Case:112 patients hospitalized for alcohol dependence;Control:140 non-alcohol-dependent controls										
132192	Y	diabetes, type 2	METABOLIC	MET	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Gallagher, C. J.  et al. 2005	16140553				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	African American		CDC GDPinfo	4988	Hs.2353			Molecular genetics and metabolism. 2006 Jan;87(1):54-60	Association of the mu-opioid receptor gene with type 2 diabetes mellitus in an African American population.		600018	18775	2	2005												
132193		renal cancer; morphine response	CANCER	CAN		6	6q24-q25	OPRM1	154402135	154609693		Darimont, J.  et al. 2005	15704610				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			International journal of clinical pharmacology and therapeutics. 2005 Jan;43(1):17-22	Comparison of two screening methods for in-house genotyping in clinical pharmacology units.		600018	23193	2	2005	Although both methods were found suitable for rapid SNP detection, Pyrosequencing was the preferred method since it provides the nucleotide sequence directly thus facilitating interpretation.	Case:130 DNA samples										
132194		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Confusion|Pain, Intractable|Nausea	6	6q24-q25	OPRM1	154402135	154609693		Ross, J. R.  et al. 2005	16103897				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			The pharmacogenomics journal. 2005 ;5(5):324-36	Clinical response to morphine in cancer patients and genetic variation in candidate genes.		600018	23194	2	2005												
132188	Y	substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Cocaine-Related Disorders|Opioid-Related Disorders|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Luo, X.  et al. 2003	12815747				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	European	United States	CDC GDPinfo	4988	Hs.2353			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):97-108	Haplotypes at the OPRM1 locus are associated with susceptibility to substance dependence in European-Americans.		600018	18771	2	2003	These findings suggest that OPRM1 may play a role in the pathophysiology of substance dependence and this role is population- and diagnosis-specific.	Control:179/55 European-American (n=179) and African-American (n=55) normal controls;Case:318/122 European-American (n=318) and African-American (n=122) substance dependent subjects										
132189	N	opioid dependence	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	6	6q24-q25	OPRM1	154402135	154609693		Crowley, J. J.  et al. 2003	12960749				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	African American	Pennsylvania	CDC GDPinfo	4988	Hs.2353			Psychiatric genetics. 2003 Sep;13(3):169-73	A genetic association study of the mu opioid receptor and severe opioid dependence.		600018	18772	2	2003	 Despite reasonable statistical power we found no evidence of association between the five mu opioid receptor polymorphisms studied and severe opioid dependence in our sample. There were, however, significant allele frequency differences between African-Americans and European-Americans for all five polymorphisms, irrespective of drug-dependent status. Linkage disequilibrium analysis of the African-American genotypes indicated linkage disequilibrium (P<0.0001) across the five-polymorphism, 1911 base pair region. In addition, only four haplotypes of these five polymorphisms are predicted to exist in African-Americans.	Control:196 carefully screened 'supercontrol' subjects (96 African-Americans, 100 European-Americans);Case:213 subjects with severe opioid dependence (89 African-Americans, 124 European-Americans)										
132190		smoking behavior	CHEMDEPENDENCY	CHEM		6	6q24-q25	OPRM1	154402135	154609693		Lerman, C.  et al. 2004	15007373				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			The pharmacogenomics journal. 2004 ;4(3):184-92	The functional mu opioid receptor (OPRM1) Asn40Asp variant predicts short-term response to nicotine replacement therapy in a clinical trial.		600018	18773	2	2004	Smokers who carry the OPRM1 Asp40 variant are likely to have a favorable response to TN and may benefit from extended therapy with the 21 mg dose.	Cohort 320 smokers of European ancestry 	nicotine, nasal spray nicotine, transdermal									
132185		heroin addiction	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Shi, J.  et al. 2002	11933204				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2		China	CDC GDPinfo	4988	Hs.2353			Human mutation. 2002 Apr;19(4):459-60	Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin.		600018	18768	2	2002	Thus our study further highlights the importance of studing the various regions of the mu opioid receptor gene, coding as well as non-coding, for genetic markers that may be linked to, or directly contribute to opioid drug-seeking behavior.	Case Han Chinese heroin addicts;Control normal controls										
132186	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	6	6q24-q25	OPRM1	154402135	154609693		Wilkie, H.  et al. 2002	12221164				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Neurology. 2002 Sep;59(5):724-8	Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy.		600018	18769	2	2002	 These results confirm the previous association and support the hypothesis of a role for OPRM1 in IGE, including absence syndromes. However, the authors found no evidence for a specific association between OPRM1 and idiopathic absence epilepsy. The data suggest that the functional variant predisposing to IGE is located within 60kb of exon 1.	Cohort 230 probands with idiopathic generalized epilepsy 										
132187		opioid dependence	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Franke, P.  et al. 2003	12648891				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			European psychiatry. 2003 Feb;18(1):18-22	Introducing a new recruitment approach to sample collection for genetic association studies in opioid dependence.		600018	18770	2	2003	Despite absence of association we think that this recruitment approach introduced here, is useful since it putatively offers a more adequate matching for case-control association studies of opioid dependent individuals.	Case opiod dependent cases recruited from individuals who have had access to drugs including opioids and who had been sentenced for violation of the "Dangerous Drugs Act":Germany;Control non-opioid dependent controls opioids and who had been sentenced for violation of the "Dangerous Drugs Act"										
132181		cortisol	METABOLIC	MET		6	6q24-q25	OPRM1	154402135	154609693		Chong, R. Y.  et al. 2005	16123758				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Neuropsychopharmacology. 2006 Jan;31(1):204-11	The Mu-Opioid Receptor Polymorphism A118G Predicts Cortisol Responses to Naloxone and Stress.		600018	13029	2	2005			naloxone stress									
132182		substance dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693			16387451	118 A > G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Drug and alcohol dependence. 2005	Association of an Asn40Asp (A118G) polymorphism in the mu-opioid receptor gene with substance dependence: A meta-analysis		600018	13030	2	2005	 The Asn40Asp SNP in OPRM1 does not appear to affect risk for SD. Additional research is needed to determine whether these findings reflect no role for OPRM1 in determining risk for SD or whether another polymorphism in the gene influences receptor function and risk for SD.											
132183		pain response	NEUROLOGICAL	NEUR	Pain, Postoperative	6	6q24-q25	OPRM1	154402135	154609693			16400534	118 A > G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Journal of behavioral medicine. 2006	Anger Regulation Style, Postoperative Pain, and Relationship to the A118G Mu Opioid Receptor Gene Polymorphism: A Preliminary Study		600018	13031	2	2006	 These results suggest that the A118G SNP may moderate but not mediate the effects of anger-out on postoperative pain responses.											
132184		substance dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Hoehe, M. R.  et al. 2000	11092766				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Human molecular genetics. 2000 Nov;9(19):2895-908	Sequence variability and candidate gene analysis in complex disease: association of mu opioid receptorgene variation with substance dependence.		600018	18767	2	2000	This study provides an example of approaches that have been successfully applied to the establishment of complex genotype??phenotype relationships in the presence of abundant DNA sequence variation.	Case Not specified in abstract;Control Not specified in abstract										
132177	N	opioid abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	6	6q24-q25	OPRM1	154402135	154609693		Smith, R. J.  et al. 2004	15558714				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):105-9	Novel exonic mu-opioid receptor gene (OPRM1) polymorphisms not associated with opioid dependence.		600018	13024	2	2004	The results indicate that polymorphisms in the novel splice variant are not associated with opioid dependence, but are in LD with other polymorphisms in OPRM1.	Control:128 carefully screened controls;Case:170 African-American (AA) subjects and European-American (EA) severe opioid dependent:individuals										
132178		alcohol abuse	CHEMDEPENDENCY	CHEM		6	6q24-q25	OPRM1	154402135	154609693		Ray, L. A.  et al. 2004	15608594				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Alcoholism, clinical and experimental research. 2004 Dec;28(12):1789-95	A Polymorphism of the mu-Opioid Receptor Gene (OPRM1) and Sensitivity to the Effects of Alcohol in Humans		600018	13025	2	2004	 These findings may help to explain previous research suggesting that naltrexone is more effective among individuals with the G allele. A medication that reduces feelings of euphoria after alcohol consumption may be more successful among individuals with a genetic predisposition to greater feelings of euphoria after consuming alcohol.	Cohort 23/15 participants who were homozygous for the A allele (n = 23) or heterozygous (n = 15) 										
132180	Y	pain response	NEUROLOGICAL	NEUR	Pain|Ischemia	6	6q24-q25	OPRM1	154402135	154609693		Fillingim, R. B.  et al. 2005	15772909	118 A > G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			The journal of pain. 2005 Mar;6(3):159-67	The A118G single nucleotide polymorphism of the mu-opioid receptor gene (OPRM1) is associated with pressure pain sensitivity in humans.		600018	13027	2	2005	The results indicate that the rare allele is associated with higher pressure pain thresholds. These results support previous contentions that OPRM1 may be a pain-relevant gene; however, replication of these findings is needed.	Cohort 167 healthy volunteers (96 female, 71 male) 										
132173		substance abuse	CHEMDEPENDENCY	CHEM		6	6q24-q25	OPRM1	154402135	154609693		Hernandez-Avila, C. A.  et al. 2004	15167694	Asn40Asp			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Psychiatric genetics. 2004 Jun;14(2):89-92	Association study of personality factors and the Asn40Asp polymorphism at the mu-opioid receptor gene (OPRM1)		600018	13020	2	2004	 These findings fail to support the hypothesis that Asn40Asp alleles moderate the development of personality dimensions, as measured by the Five-Factor Model.	Case:335 substance-dependent subjects;Control:446 healthy subjects										
132175	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Bart, G.  et al. 2004	15525999				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Swedish	Sweden	CDC GDPinfo	4988	Hs.2353			Neuropsychopharmacology. 2005 Feb;30(2):417-22	Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden.		600018	13022	2	2004	In central Sweden, the functional variant 118G allele in exon 1 of OPRM1 is associated with an increased attributable risk for alcohol dependence.	Control:170 population-based controls without drug or alcohol abuse or dependence;Case:389 alcohol-dependent individuals:Sweden										
132176		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	6	6q24-q25	OPRM1	154402135	154609693		Ide, S.  et al. 2004	15542732				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Annals of the New York Academy of Sciences. 2004 Oct;1025:316-24	Gene polymorphisms of the mu opioid receptor in methamphetamine abusers.		600018	13023	2	2004	Further analysis should be capable of identifying associations between the OPRM variations and MAP dependence/psychosis.	Case methamphetamine abusers;Control:controls										
132170		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q24-q25	OPRM1	154402135	154609693		Tan, E. C.  et al. 2003	12657887				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Chinese	Asia	CDC GDPinfo	4988	Hs.2353			Neuroreport. 2003 Mar;14(4):569-72	Mu opioid receptor gene polymorphisms and heroin dependence in Asian populations.		600018	13017	2	2003	For the A118G polymorphism, we found significant differences in allele and genotype frequencies between different ethnic groups and highly significant association with heroin dependence in Indians for both genotype distribution (p = 0.024) and allele frequency (p = 0.009). For the C17 T polymorphism, the minor allele was documented in Chinese and Malays for the first time. Molecular haplotyping revealed complete linkage dis-equilibrium between the A118G and C17 T polymorphisms. Linkage disequilibrium between the A118G and C1031G polymorphisms was found to be almost complete in all four ethnic groups.	Case heroin dependent subjects from three different Asian populations;Control subjects from four different Asian populations										
132171	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Oslin, D. W.  et al. 2003	12813472				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Neuropsychopharmacology. 2003 Aug;28(8):1546-52	A functional polymorphism of the mu-opioid receptor gene is associated with naltrexone response in alcohol-dependent patients.		600018	13018	2	2003	These preliminary results are consistent with prior literature demonstrating that the opioid system is involved in the reinforcing properties of alcohol and that allelic variation at OPRM1 is associated with differential response to a &mgr;-receptor antagonist. If replicated, these results would help to identify alcohol-dependent individuals who may be most likely to respond to treatment with naltrexone.	Cohort 82/59 patients randomized to naltrexone (n=82) and randomized to placebo (N=59) 	naltrexone									
132172		opioid abuse	OTHER	OTH	Hyperalgesia|Opioid-Related Disorders	6	6q24-q25	OPRM1	154402135	154609693		Compton, P.  et al. 2003	12898579				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):76-82	Association between human mu-opioid receptor gene polymorphism, pain tolerance, and opioid addiction.		600018	13019	2	2003	The absence of this polymorphism, the small sample size and the heterogeneous ethnic backgrounds of participants in the pilot study allow only tentative conclusions based on the results, thus the role of the opioid receptor in pain and opioid reward response remains uncertain.	Case:50 opioid addicts in methadone treatment;Control:59 healthy normal controls										
132167		alcohol abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Schinka, J. A.  et al. 2002	11840318				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Molecular psychiatry. 2002 ;7(2):224-8	A functional polymorphism within the mu-opioid receptor gene and risk for abuse of alcohol and other substances.		600018	13014	2	2002	The contribution of the gene to risk for substance dependence is small, and is detected most easily in studies that use control samples that are screened for all forms of substance dependence.	Case several groups of substance-dependent cases;Control unrestricted controls and super controls										
132168	N	depression; anxiety-related traits	PSYCH	PSY	Mental Disorders|Child Behavior Disorders	6	6q24-q25	OPRM1	154402135	154609693		Jorm, A. F.  et al. 2002	12210283				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			American journal of medical genetics. 2002 Aug;114(6):659-64	Lack of association of a single-nucleotide polymorphism of the mu-opioid receptor gene with anxiety-related traits: results from across-sectional study of adults and a longitudinal study of children.		600018	13015	2	2002	The data did not support a role for the Asn40Asp polymorphism in anxiety and depression, despite adequate statistical power to detect small effects.	Cohort 660 children followed from infancy to the mid-teens Cohort 867 community-living adults aged 18-79 years 										
132169		cortisol; ACTH	METABOLIC	MET		6	6q24-q25	OPRM1	154402135	154609693		Hernandez-Avila, C. A.  et al. 2003	12627468	Asn40Asp			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):60-5	Association between the cortisol response to opioid blockade and the Asn40Asp polymorphism at the mu-opioid receptor locus (OPRM1).		600018	13016	2	2003	 These findings are consistent with recent reports showing an enhanced cortisol response to naloxone and a reduced agonist effect of morphine-6-glucuronide among subjects with the Asp40 variant. Given evidence of its pharmacological significance, the clinical relevance of this polymorphism warrants further investigation.	Cohort 30 healthy subjects 	naloxone									
132164	Y	heroin dependence	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q24-q25	OPRM1	154402135	154609693		Szeto, C. Y.  et al. 2001	11338173				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Chinese		CDC GDPinfo	4988	Hs.2353			Neuroreport. 2001 May;12(6):1103-6	Association between mu opioid receptor gene polymorphisms and Chinese heroin addicts.		600018	13011	2	2001	This study suggests that the variant G allele of both A118G and C1031G polymorphisms may contribute to the vulnerability to heroin dependence.	Case:200 heroin-dependent individuals:China;Control:97 control subjects (not otherwise specified in:abstract)										
132165	Y	substance dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Franke, P.  et al. 2001	11424981	A118G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			American journal of medical genetics. 2001 Jan;105(1):114-9	Nonreplication of association between mu-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependence.		600018	13012	2	2001	In both patient samples and by both methods we were unable to corroborate the hypothesis of OPRM1 A118G polymorphism as a particular risk factor for any kind of substance dependence including opioid addiction. In addition, there was no significant association between the endophenotype of the individuals under study (e.g., comorbidity, severity of illness) and a particular genotype of OPRM1.	Cohort 111 parent-offspring trios of heroin-dependent study subjects ;Case:221 alcohol dependent study subjects;Case:287 heroin dependent subjects;Control:365 nondependent controls:Cohort:75 parent-offspring trios of alcohol-dependent study:subjects										
132166		ACTH, rate of decrease; ACTH, rate of increase; cortisol response to opioid receptor blockade	NEUROLOGICAL	NEUR		6	6q24-q25	OPRM1	154402135	154609693		Wand, G. S.  et al. 2002	11751037	A118G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Neuropsychopharmacology. 2002 Jan;26(1):106-14	The mu-opioid receptor gene polymorphism (A118G) alters HPA axis activation induced by opioid receptor blockade.		600018	13013	2	2002	It is plausible that persons expressing the mu-opioid receptor variant have altered HPA axis dynamics and altered responses to other physiological processes regulated through activation of the mu-opioid receptor.	Cohort 39 healthy men 										
132161	Y	addiction to heroin	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Shi J et al. 2002	11933204				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2		China	KGB	4988	Hs.2353			Human mutation. 2002 Apr;19(4):459-60	Sequence variations in the mu-opioid receptor gene (OPRM1) associated with human addiction to heroin.		600018	4822	1	2002	Thus our study further highlights the importance of studing the various regions of the mu opioid receptor gene, coding as well as non-coding, for genetic markers that may be linked to, or directly contribute to opioid drug-seeking behavior.	Case Han Chinese heroin addicts;Control normal controls										
132162	Y	pain tolerance, and opioid addiction	OTHER	OTH	Hyperalgesia|Opioid-Related Disorders	6	6q24-q25	OPRM1	154402135	154609693		Compton P 2003	12898579				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):76-82	Association between human mu-opioid receptor gene polymorphism, pain tolerance~~~ and opioid addiction.		600018	4823	1	2003	The absence of this polymorphism, the small sample size and the heterogeneous ethnic backgrounds of participants in the pilot study allow only tentative conclusions based on the results, thus the role of the opioid receptor in pain and opioid reward response remains uncertain.	Case:50 opioid addicts in methadone treatment;Control:59 healthy normal controls										
132163	Y	naltrexone response in alcohol-dependent patients	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Oslin DW 2003	12813472			coding sequence	Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	alcohol dependent patients		KGB	4988	Hs.2353			Neuropsychopharmacology. 2003 Aug;28(8):1546-52	A functional polymorphism of the mu-opioid receptor gene is associated with naltrexone response in alcohol-dependent patients.		600018	4824	1	2003	These preliminary results are consistent with prior literature demonstrating that the opioid system is involved in the reinforcing properties of alcohol and that allelic variation at OPRM1 is associated with differential response to a &mgr;-receptor antagonist. If replicated, these results would help to identify alcohol-dependent individuals who may be most likely to respond to treatment with naltrexone.	Cohort 82/59 patients randomized to naltrexone (n=82) and randomized to placebo (N=59)	naltrexone									
132158	N	substance dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Franke P et al. 2001	11424981				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			American journal of medical genetics. 2001 Jan;105(1):114-9	Nonreplication of association between mu-opioid-receptor gene (OPRM1) A118G polymorphism and substance dependence.		600018	4819	1	2001	In both patient samples and by both methods we were unable to corroborate the hypothesis of OPRM1 A118G polymorphism as a particular risk factor for any kind of substance dependence including opioid addiction. In addition, there was no significant association between the endophenotype of the individuals under study (e.g., comorbidity, severity of illness) and a particular genotype of OPRM1.	Cohort 111 parent-offspring trios of heroin-dependent study subjects ;Case:221 alcohol dependent study subjects;Case:287 heroin dependent subjects;Control:365 nondependent controls:Cohort:75 parent-offspring trios of alcohol-dependent study:subjects										
132159	N	anxiety-related traits	PSYCH	PSY	Mental Disorders|Child Behavior Disorders	6	6q24-q25	OPRM1	154402135	154609693	n	Jorm AF et al. 2002	12210283				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			American journal of medical genetics. 2002 Aug;114(6):659-64	Lack of association of a single-nucleotide polymorphism of the mu-opioid receptor gene with anxiety-related traits: results from a cross-sectional study of adults and a longitudinal study of children.		600018	4820	1	2002	The data did not support a role for the Asn40Asp polymorphism in anxiety and depression, despite adequate statistical power to detect small effects.	Cohort 660 children followed from infancy to the mid-teens Cohort 867 community-living adults aged 18-79 years										
132160	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	6	6q24-q25	OPRM1	154402135	154609693		Wilkie H et al. 2002	12221164				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			Neurology. 2002 Sep;59(5):724-8	Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy.		600018	4821	1	2002	 These results confirm the previous association and support the hypothesis of a role for OPRM1 in IGE, including absence syndromes. However, the authors found no evidence for a specific association between OPRM1 and idiopathic absence epilepsy. The data suggest that the functional variant predisposing to IGE is located within 60kb of exon 1.	Cohort 230 probands with idiopathic generalized epilepsy										
132154	Y	alcohol dependency	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Town T et al. 1999	10490697			coding sequence	Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			American journal of medical genetics. 1999 Oct;88(5):458-61	Association of a functional mu-opioid receptor allele (+118A) with alcohol dependency.		600018	4815	1	1999												
132155	Y	alcoholism	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Kranzler HR et al. 1998	9756053				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			KGB	4988	Hs.2353			Alcoholism, clinical and experimental research. 1998 Sep;22(6):1359-62	Association of alcohol or other drug dependence with alleles of the mu opioid receptor gene (OPRM1).		600018	4816	1	1998												
132156	N	alcohol dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q24-q25	OPRM1	154402135	154609693	n	Bergen AW et al. 1997	9399694				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2		United States|Southwestern United States|Finland	KGB	4988	Hs.2353			Molecular psychiatry. 1997 Oct-Nov;2(6):490-4	Mu opioid receptor gene variants: lack of association with alcohol dependence.		600018	4817	1	1997												
132157	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q24-q25	OPRM1	154402135	154609693		Szeto CY et al. 2001	11338173				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Chinese		KGB	4988	Hs.2353			Neuroreport. 2001 May;12(6):1103-6	Association between mu opioid receptor gene polymorphisms and Chinese heroin addicts.		600018	4818	1	2001	This study suggests that the variant G allele of both A118G and C1031G polymorphisms may contribute to the vulnerability to heroin dependence.	Case:200 heroin-dependent individuals:China;Control:97 control subjects (not otherwise specified in:abstract)										
132151		heroin addiction	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	8	8q11.2	OPRK1	54300828	54326747		Yuferov, V.  et al. 2004	15608558				Opioid receptor, kappa 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000912.3	African American	New York	CDC GDPinfo	4986	Hs.106795			Pharmacogenetics. 2004 Dec;14(12):793-804	Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction		165196	18766	2	2004	Using logistic regression with opioid dependence as the dependent variable, the 36G>T SNP exhibited a point-wise significant association (P = 0.016) with disease status. The number of haplotypes seen in the three ethnic groups were nine, six and five for African-Americans, Caucasians, and Hispanics, respectively, with corresponding significance levels for differences in haplotype frequencies between cases and controls of P = 0.0742, 0.1015 and 0.0041. Combining ethnicities by Fisher's method yields an empirical significance level of P = 0.0020.	Case:145 former heroin addicts;Control:146:controls										
132152	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	8	8q11.2	OPRK1	54300828	54326747		Loh el, W.  et al. 2004	14745298				Opioid receptor, kappa 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000912.3	Taiwanese	Taiwan	CDC GDPinfo	4986	Hs.106795			Alcoholism, clinical and experimental research. 2004 Jan;28(1):15-9	Endogenous opioid receptor genes and alcohol dependence among Taiwanese Han.		165196	23192	2	2004	 Our findings do not support a possible role of the opioid receptor genes for the proclivity to alcohol dependence in the Taiwanese Han.	Control:149:controls;Case:158 Han alcohol-dependent subjects:Taiwan										
132153	Y	cortisol response to opioid blockade	METABOLIC	MET		6	6q24-q25	OPRM1	154402135	154609693		Hernandez-Avila CA et al. 2003	12627468				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	normal		KGB	4988	Hs.2353	cortisol responses to intravenous naloxone		American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):60-5	Association between the cortisol response to opioid blockade and the Asn40Asp polymorphism at the mu-opioid receptor locus (OPRM1).		600018	4814	1	2003	 These findings are consistent with recent reports showing an enhanced cortisol response to naloxone and a reduced agonist effect of morphine-6-glucuronide among subjects with the Asp40 variant. Given evidence of its pharmacological significance, the clinical relevance of this polymorphism warrants further investigation.	Cohort 30 healthy subjects	naloxone									
132147		tritanopia	VISION	VIS	Color Vision Defects	7	7q31.3-q32	OPN1SW	128199782	128203087		Weitz CJ et al. 1992	1531728				Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001708.1			KGB	611	Hs.592258			American journal of human genetics. 1992 Mar;50(3):498-507	Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.		190900	969	1	1992												
132148	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	1	1p36.1-p34.3	OPRD1	29011240	29062795		Mayer P et al. 1997	9261824				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3		Germany	KGB	4985	Hs.372			Neuroreport. 1997 Jul;8(11):2547-50	Association between a delta opioid receptor gene polymorphism and heroin dependence in man.		165195	4813	1	1997												
132149	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	1	1p36.1-p34.3	OPRD1	29011240	29062795		Xu, K.  et al. 2002	12116270				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3	Chinese	China	CDC GDPinfo	4985	Hs.372			American journal of medical genetics. 2002 Jun;110(1):45-50	Relationship of the delta-opioid receptor gene to heroin abuse in a large Chinese case/control sample.		165195	18764	2	2002	Therefore, these data do not support an association between the OPRD1 gene and heroin dependence in the Chinese population.	Control:304 unaffected controls from the same poppulation;Case:450 Chinese heroin dependent patients										
132150	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	1	1p36.1-p34.3	OPRD1	29011240	29062795		Loh el, W.  et al. 2004	14745298				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3	Taiwanese	Taiwan	CDC GDPinfo	4985	Hs.372			Alcoholism, clinical and experimental research. 2004 Jan;28(1):15-9	Endogenous opioid receptor genes and alcohol dependence among Taiwanese Han.		165195	18765	2	2004	 Our findings do not support a possible role of the opioid receptor genes for the proclivity to alcohol dependence in the Taiwanese Han.	Control:149:controls;Case:158 Han alcohol-dependent subjects:Taiwan										
132143	Y	glaucoma	VISION	VIS	Glaucoma	3	3q28-q29	OPA1	194793805	194898009		Aung, T.  et al. 2002	11810296				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1		London	CDC GDPinfo	4976	Hs.478708			Human genetics. 2002 Jan;110(1):52-6	A major marker for normal tension glaucoma:association with polymorphisms in the OPA1 gene		605290	18761	2	2002	These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease.	Control:100 population controls.;Case:83 well-characterized NTG patients										
132144	Y	optic atrophy	VISION	VIS	Optic Atrophy	3	3q28-q29	OPA1	194793805	194898009		Yamada, T.  et al. 2003	12842213				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1	Japanese	Japan	CDC GDPinfo	4976	Hs.478708			Japanese journal of ophthalmology. 2003 Jul-Aug;47(4):409-11	OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.		605290	18762	2	2003	 The mutations (Glu347Stop and Arg366Stop) of the OPA1 gene are involved in the pathogenesis of bilateral optic atrophy in Japanese patients.	Control:100 healthy controls;Case:12 Japanese patients with bilateral optic atrphy										
132146	Y	Defective colour vision	VISION	VIS		X	Xq28	OPN1MW	153101342	153114834		Winderickx J et al. 1992	1302020				Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162			KGB	2652	Hs.247787			Nature genetics. 1992 Jul;1(4):251-6	Defective colour vision associated with a missense mutation in the human green visual pigment gene.		303800	2834	1	1992												
132140	N	glaucoma	VISION	VIS	Optic Atrophy, Autosomal Dominant|Glaucoma	3	3q28-q29	OPA1	194793805	194898009		Aung, T.  et al. 2003	12543739				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			CDC GDPinfo	4976	Hs.478708			The British journal of ophthalmology. 2003 Feb;87(2):149-52	The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms		605290	13007	2	2003	 The absence of phenotypic differences in normal tension glaucoma patients with and without the OPA1 polymorphisms IVS 8 +4 C/T; +32 T/C suggest that these OPA1 polymorphisms do not underlie any major phenotypic diversity in these patients.	Cohort 108 well characterised normal tension glaucoma patients 										
132141	Y	glaucoma, normal tension	VISION	VIS	Glaucoma, Open-Angle	3	3q28-q29	OPA1	194793805	194898009		Powell, B. L.  et al. 2003	14551537				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			CDC GDPinfo	4976	Hs.478708			Molecular vision [electronic resource]. 2003 Sep;9:460-4	Polymorphisms in OPA1 are associated with normal tension glaucoma		605290	13008	2	2003	 We have refined the previously reported association between OPA1 sequence changes and NTG by identifying a specific CC genotype at position +32 in IVS8 of the OPA1 gene that acts as a marker for NTG. At the current time, NTG is frequently diagnosed late when loss of neurons has already caused significant and irreversible peripheral field loss. If a test could be designed to identify those people at risk of developing NTG, then careful screening might detect earlier signs of disease allowing commencement of treatment before significant field loss has occurred.	Control:119 individuals from the general population;Case:61 patients with normal tension glaucoma										
132142	Y	glaucoma, normal tension	VISION	VIS	Glaucoma, Open-Angle	3	3q28-q29	OPA1	194793805	194898009		Woo, S. J.  et al. 2004	15534475				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1	Korean		CDC GDPinfo	4976	Hs.478708			Journal of glaucoma. 2004 Dec;13(6):492-5	Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea.		605290	13009	2	2004	 There were no significant associations between IVS8+4C>T; +32T>C polymorphisms and NTG in the Korean population. These results do not support the results in Caucasians and indicate that ethnic differences may exist in the association between polymorphisms in the OPA1 gene and NTG.	Control:101 healthy Korean subjects;Case:65 Korean normal tension glaucoma patients										
132137		optic atrophy and moderate deafness	VISION	VIS	Deafness|Optic Atrophy, Autosomal Dominant	3	3q28-q29	OPA1	194793805	194898009		Amati-Bonneau P 2003	14644237	R445H		coding sequence	Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			KGB	4976	Hs.478708			American journal of ophthalmology. 2003 Dec;136(6):1170-1	The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.		605290	4809	1	2003	 The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed.											
132138	Y	normal tension glaucoma	VISION	VIS	Glaucoma, Open-Angle	3	3q28-q29	OPA1	194793805	194898009		Powell BL 2003	14551537				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			KGB	4976	Hs.478708			Molecular vision [electronic resource]. 2003 Sep;9:460-4	Polymorphisms in OPA1 are associated with normal tension glaucoma.		605290	4810	1	2003	 We have refined the previously reported association between OPA1 sequence changes and NTG by identifying a specific CC genotype at position +32 in IVS8 of the OPA1 gene that acts as a marker for NTG. At the current time, NTG is frequently diagnosed late when loss of neurons has already caused significant and irreversible peripheral field loss. If a test could be designed to identify those people at risk of developing NTG, then careful screening might detect earlier signs of disease allowing commencement of treatment before significant field loss has occurred.	Control:119 individuals from the general population;Case:61 patients with normal tension glaucoma										
132139	Y	glaucoma	VISION	VIS	Glaucoma	3	3q28-q29	OPA1	194793805	194898009		Aung, T.  et al. 2002	12073024				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			CDC GDPinfo	4976	Hs.478708			Human genetics. 2002 May;110(5):513-4	Investigating the association between OPA1 polymorphisms and glaucoma: comparison betweennormal tension and high tension primary open angle glaucoma.		605290	13006	2	2002	results indicate that unlike NTG, the OPA1 genotype IVS8 C/T,? is not significantly associated with high-tension primary open angle glaucoma, and suggest genetic heterogeneity between the conditions.	Control:controls;Case:90 well-characterized high-tension glaucoma patients										
132133		autism	PSYCH	PSY	Autistic Disorder	17	17q11.2	OMG	26645793	26648481		Vourc'h, P.  et al. 2003	12566166				Oligodendrocyte myelin glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002544.3			CDC GDPinfo	4974	Hs.113874			Neuroscience letters. 2003 Feb;338(2):115-8	Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.		164345	18760	2	2003	We found no other polymorphism using SSCP screening and DNA sequencing in the OMGP coding region in 16 autistic patients bearing OMGP62 allele A.	Control:101;Case:65 autistic disorder patients										
132135	N	glaucoma	VISION	VIS	Glaucoma	3	3q28-q29	OPA1	194793805	194898009		Aung T et al. 2002	12073024				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			KGB	4976	Hs.478708			Human genetics. 2002 May;110(5):513-4	Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.		605290	4807	1	2002	results indicate that unlike NTG, the OPA1 genotype IVS8 C/T,? is not significantly associated with high-tension primary open angle glaucoma, and suggest genetic heterogeneity between the conditions.	Control:controls;Case:90 well-characterized high-tension glaucoma patients										
132136	Y	glaucoma	VISION	VIS	Glaucoma	3	3q28-q29	OPA1	194793805	194898009		Aung T et al. 2002	11810296				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1		London	KGB	4976	Hs.478708			Human genetics. 2002 Jan;110(1):52-6	A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.		605290	4808	1	2002	These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease.	Control:100 population controls.;Case:83 well-characterized NTG patients										
132130	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Trabetti, E.  et al. 2005	16251892				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDPinfo	4973	Hs.412484			European journal of human genetics. 2006 Jan;14(1):127-30	On the association of the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction or coronary artery disease.		602601	18759	2	2005												
132131		cerebral amyloid angiopathy; senile plaques	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	12	12p13.2-p12.3	OLR1	10202165	10216057			16328515				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDPinfo	4973	Hs.412484			Acta neuropathologica. 2006 Jan;111(1):15-20	A 3'-UTR polymorphism in the oxidized LDL receptor 1 gene increases Abeta(40) load as cerebral amyloid angiopathy in Alzheimer's disease		602601	25403	2	2005												
132132		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Papassotiropoulos, A.  et al. 2005	16013913				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2		Greece|Switzerland	CDC GDPinfo	4973	Hs.412484			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		602601	27167	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
132127	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Luedecking-Zimmer, E.  et al. 2002	12384789				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDPinfo	4973	Hs.412484			Human genetics. 2002 Oct;111(5-Apr):443-51	Investigation of oxidized LDL-receptor 1 (OLR1) as the candidate gene for Alzheimer's disease on chromosome 12		602601	18756	2	2002	Our data suggest that genetic variation in the OLR1 gene may modify the risk of AD in an APOE*4-dependent fashion.	Control:700:controls;Case:800 late-onset AD cases										
132128	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression	12	12p13.2-p12.3	OLR1	10202165	10216057		Tatsuguchi, M.  et al. 2003	12646194				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDPinfo	4973	Hs.412484			Biochemical and biophysical research communications. 2003 Mar;303(1):247-50	Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.		602601	18757	2	2003	These findings suggest that OLR1 or a neighboring gene linked with G501C SNP is important for the incidence of MI. Manipulating LOX-1 activity might be a useful therapeutic and preventative approach for coronary artery disease, especially for individuals with the G501C genotype of OLR1.	Case:102 myocardial infarction patients;Control:102 clinically healthy subjects										
132129	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Ohmori, R.  et al. 2004	15562935				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDPinfo	4973	Hs.412484			Clinical cardiology. 2004 Nov;27(11):641-4	An oxidized low-density lipoprotein receptor gene variant is inversely associated with the severity of coronary artery disease		602601	18758	2	2004	 The LOX-1 gene variants at 501 were found to be inversely associated with the severity of CAD. This polymorphism may be modifying the severity of CAD.	Cohort 586 patients undergoing coronary angiography 										
132124	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Bertram L 2004	15060104			3' UTR	Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			KGB	4973	Hs.412484			Journal of medical genetics. 2004 Apr;41(4):286-8	No association between a previously reported OLR1 3' UTR polymorphism and Alzheimer's disease in a large family sample.		602601	4806	1	2004												
132125	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Lambert, J. C.  et al. 2003	12807963			3' UTR	Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2		United States|France	CDC GDPinfo	4973	Hs.412484			Journal of medical genetics. 2003 Jun;40(6):424-30	Association of 3'-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease.		602601	13004	2	2003	The OLR1 expression was significantly lower in AD cases bearing the CC and CT genotypes compared with controls with the same genotypes. In conclusion, our data suggest that genetic variation in the OLR1 gene may modify the risk of AD.	Case:589 French sporadic Alzheimer's disease cases;Control:663:controls										
132126	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		D'Introno, A.  et al. 2005	15860461				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2		Italy	CDC GDPinfo	4973	Hs.412484			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Mar;60(3):280-4	Polymorphisms in the oxidized low-density lipoprotein receptor-1 gene and risk of Alzheimer's disease.		602601	13005	2	2005	In our population, the +1073 C/T OLR1 polymorphism exhibited a significant association with Alzheimer's disease, further supporting the role of OLR1 as a candidate risk gene for sporadic Alzheimer's disease.	Case:169 sporadic Alzheimer's disease patients southern Italy;Control:264 sex- and age-matched nondemented controls										
132121	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Lambert JC et al. 2003	12807963				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2		United States|France	KGB	4973	Hs.412484			Journal of medical genetics. 2003 Jun;40(6):424-30	Association of 3'-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease.		602601	4803	1	2003	The OLR1 expression was significantly lower in AD cases bearing the CC and CT genotypes compared with controls with the same genotypes. In conclusion, our data suggest that genetic variation in the OLR1 gene may modify the risk of AD.	Case:589 French sporadic Alzheimer's disease cases;Control:663:controls										
132122	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression	12	12p13.2-p12.3	OLR1	10202165	10216057		Tatsuguchi M et al. 2003	12646194				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			KGB	4973	Hs.412484			Biochemical and biophysical research communications. 2003 Mar;303(1):247-50	Oxidized LDL receptor gene (OLR1) is associated with the risk of myocardial infarction.		602601	4804	1	2003	These findings suggest that OLR1 or a neighboring gene linked with G501C SNP is important for the incidence of MI. Manipulating LOX-1 activity might be a useful therapeutic and preventative approach for coronary artery disease, especially for individuals with the G501C genotype of OLR1.	Case:102 myocardial infarction patients;Control:102 clinically healthy subjects										
132123		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Chen Q 2003	12810610				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			KGB	4973	Hs.412484			Circulation. 2003 Jul;107(25):3146-51	Genetic variation in lectin-like oxidized low-density lipoprotein receptor 1 (LOX1) gene and the risk of coronary artery disease.		602601	4805	1	2003	 Our data suggest that common genetic variation in the LOX1 gene may be associated with the risk of coronary artery disease in white women.											
132118		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	3	3p26.2	OGG1	9765704	9783342		Xing, D.  et al. 2003	12883749				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Chinese	China	CDC GDPinfo	4968	Hs.380271			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		601982	28356	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
132119		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	3	3p26.2	OGG1	9765704	9783342		Zienolddiny, S.  et al. 2005	16195237				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		601982	28357	2	2005												
132120		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Liu, Y.  et al. 2005	15654505				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Japanese	Japan	CDC GDPinfo	4968	Hs.380271			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		601982	28391	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
132115		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	3	3p26.2	OGG1	9765704	9783342		Farrington, S. M.  et al. 2005	15931596				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			American journal of human genetics. 2005 Jul;77(1):112-9	Germline susceptibility to colorectal cancer due to base-excision repair gene defects.		601982	25402	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 population-based colorectal cancer cases										
132116		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Sunaga, N.  et al. 2002	12163326				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):730-8	Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility.		601982	27166	2	2002	The result indicates that the NQO1-Pro/Pro and GSTT1-null genotypes are risk factors for lung adenocarcinoma development, and that the genetic factors for susceptibility to adenocarcinoma are different from those to squamous cell carcinoma. The enhanced risk of the NQO1-Pro/Pro genotype combined with the GSTT1-null genotype was more evident in smokers than in nonsmokers. Therefore, carcinogens in tobacco smoke, which are activated by NQO1 and detoxified by GSTT1, could have a role in lung adenocarcinoma development.	Control:152 control subjects;Case:198 patients with lung cancer	smoking (tobacco)									
132117		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	3	3p26.2	OGG1	9765704	9783342		Li, D.  et al. 2002	11719088				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		601982	27591	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
132112		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	3	3p26.2	OGG1	9765704	9783342		Kim, E. J.  et al. 2005	15667866				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Korea	CDC GDPinfo	4968	Hs.380271			Urology. 2005 Jan;65(1):70-5	Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome ofbladder cancer.		601982	25399	2	2005	 Our data collectively suggest that these genetic polymorphisms may be useful as prognostic markers for bladder cancer in the clinical setting.	Control:153 control subjects;Case:153 patietns with primary bladder cancer										
132113	Y	colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p26.2	OGG1	9765704	9783342		Kim, I. J.  et al. 2004	15449173				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Korea	CDC GDPinfo	4968	Hs.380271			Human genetics. 2004 Nov;115(6):498-503	Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients:R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.		601982	25400	2	2004	This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.	Case:19/86/246 hereditary nonpolyposis colorectal cancer (HNPCC, n=19), suspected HNPCC (n=86), and sporadic colorectal cancer cases (n=246);Control:527 normal controls										
132114		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	3	3p26.2	OGG1	9765704	9783342		Farrington, S. M.  et al. 2005	15931596				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			American journal of human genetics. 2005 Jul;77(1):112-9	Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects		601982	25401	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 colorectal cancer cases										
132109		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Bonner, M. R.  et al. 2005	15781210				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Mutation research. 2005 Apr;582(2-Jan):53-60	Green tea consumption, genetic susceptibility, PAH-rich smoky coal, and the risk of lung cancer.		601982	25396	2	2005	Among GSTM1 null homozygotes, those who consumed green tea daily had a non-significant reduction in risk compared with non-consumers. Green tea consumption had no effect among OGG1 Ser(326) homozygotes or GSTM1 carriers. In addition, AKR1C3 genotype did not modulate the effect of green tea consumption. The chemopreventive effects of green tea in this population may be restricted to individuals who are particularly susceptible to oxidative stress and oxidative DNA damage.	Case:122 lung cancer cases;Control:122:controls	green tea									
132110	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Liang, G.  et al. 2005	15896461				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Chinese	China	CDC GDPinfo	4968	Hs.380271			Cancer letters. 2005 Jun;223(2):265-74	Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population.		601982	25397	2	2005	The sequencing results of CYP1B1, GSTP1 and hOGG1 matched the ones of diASA-AMP technique. CYP1B1 432Val polymorphism may modulate the individual susceptibility of lung cancer among smokers in Chinese population. GSTP1 Ile105Val and hOGG1 Ser326Cys polymorphisms were not found to be risk factors of lung cancer in this study. The method diASA-AMP is rapid, specific and cost-effective. It can be used for rapid detection of the genes related with tumor susceptibility of population.	Control:controls;Case:227 patients with lung cancer	smoking (tobacco)									
132111		pneumoconiosis, coal workers'	INFECTION	INF	Occupational Diseases|Pneumoconiosis	3	3p26.2	OGG1	9765704	9783342		Zhai, R.  et al. 2002	11977425				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Journal of occupational and environmental medicine. 2002 Apr;44(4):372-7	Genetic polymorphisms of MnSOD, GSTM1, GSTT1, and OGG1 in coal workers' pneumoconiosis		601982	25398	2	2002	Cumulative dust exposures, but not genetic polymorphisms, were associated significantly with the presence of CWP. This study illustrates the complexity of factors that may contribute to the development of CWP.	Control:160 controls (with no radiologic criteria for CWP);Case:99 cases with International Labor Organization chest radiologic criteria for CWP	coal dust smoking (tobacco)									
132105	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		Lan, Q.  et al. 2004	15284179				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Carcinogenesis. 2004 Nov;25(11):2177-81	Oxidative damage-related genes AKR1C3 and OGG1 modulate risks for lung cancer due to exposure to PAH-rich coal combustion emissions		601982	23189	2	2004	These results suggest that SNPs in the oxidative stress related-genes AKR1C3 and OGG1 may play a role in the pathogenesis of lung cancer in this population, particularly among heavily exposed women. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and other populations with substantial exposure to PAHs.	Control:113:controls;Case:118 lung cancer cases Xuan Wei, China	coal dust polycyclic aromatic hydrocarbons									
132106		lung cancer	CANCER	CAN	Neoplasms|Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		Hung, R. J.  et al. 2005	16221808				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			American journal of epidemiology. 2005 Nov;162(10):925-42	Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.		601982	23190	2	2005			smoking (tobacco)									
132107		colorectal cancer	CANCER	CAN	Adenoma|Adenocarcinoma|Colorectal Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Hansen, R.  et al. 2005	15946795				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Norway	CDC GDPinfo	4968	Hs.380271			Cancer letters. 2005 Nov;229(1):85-91	GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer.		601982	23191	2	2005												
132102	Y	cytogenetic studies	OTHER	OTH	DNA Damage	3	3p26.2	OGG1	9765704	9783342		Aka, P.  et al. 2004	15491645			coding sequence	8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Mutation research. 2004 Nov;556(2-Jan):169-81	Are genetic polymorphisms in OGG1, XRCC1 and XRCC3 genes predictive for the DNA strand break repair phenotype and genotoxicity in workers exposed to low dose ionising radiations?	rs1052133	601982	12999	2	2004	The analysis confirms that MN frequencies are reliable biomarkers for the assessment of genetic effects in workers exposed to ionising radiation (IR). A combined analysis of the three genotypes, OGG1, XRCC1 and XRCC3 polymorphisms is advised in order to assess individual susceptibility to ionising radiation. As an alternative or complement, the in vitro DNA strand break repair phenotype which integrates several repair pathways is recommended. Smokers with OGG1 polymorphisms who are exposed to ionising radiation represent a specific population requiring closer medical surveillance because of their increased mutagenic/carcinogenic risk.	Case workers exposed to ionising radiation;Control:controls	age smoking (tobacco)									
132103	Y	cervical cancer	CANCER	CAN	Carcinoma, Adenosquamous|Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Niwa, Y.  et al. 2005	15990162				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Japanese	Japan	CDC GDPinfo	4968	Hs.380271			Gynecologic oncology. 2005 Oct;99(1):43-9	Association of XRCC1 Arg399Gln and OGG1 Ser326Cys polymorphisms with the risk of cervical cancer in Japanese subjects.		601982	13002	2	2005	 This is the first report that the XRCC1 Arg399Gln polymorphism might be important in relation to the risk of adenocarcinoma/adenosquamous carcinoma of the cervix.											
132104	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Xu, J.  et al. 2002	11956079				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Cancer research. 2002 Apr;62(8):2253-7	Associations between hOGG1 sequence variants and prostate cancer susceptibility.		601982	18749	2	2002	These results suggest that sequence variants in this gene are associated with prostate cancer risk, presumably through defective DNA repair function of hOGG1.	Control:222 controls not specified in abstract;Case:245 cases of prostate cancer										
132098		stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms	3	3p26.2	OGG1	9765704	9783342		Takezaki, T.  et al. 2002	11992556	Ser326Cys			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Chinese	China	CDC GDPinfo	4968	Hs.380271			International journal of cancer. Journal international du cancer. 2002 Jun;99(4):624-7	hOGG1 Ser(326)Cys polymorphism and modification by environmental factors of stomach cancer risk in Chinese.		601982	12993	2	2002	Our findings suggest that the hOGG1 Ser(326)Cys polymorphism may alter the impact of some environmental factors on stomach cancer development. For confirmation, an additional study with a larger number of subjects is now required.	Case:101 stomach cancer cases;Control:198:controls										
132099	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		Ito, H.  et al. 2002	12164330	Ser326Cys			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Japan	CDC GDPinfo	4968	Hs.380271			Journal of epidemiology. 2002 May;12(3):258-65	A limited association of OGG1 Ser326Cys polymorphism for adenocarcinoma of the lung.		601982	12995	2	2002	This study supported the first study by Sugimura et	Case:138 cases of lung cancer;Control:241 non-cancer outpatients	smoking (tobacco)									
132100	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	3	3p26.2	OGG1	9765704	9783342		Chen, L.  et al. 2003	14634453				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			The Journal of urology. 2003 Dec;170(6 Pt 1):2471-4	Association between polymorphism of human oxoguanine glycosylase 1 and risk of prostate cancer.		601982	12997	2	2003	 These results suggest that hOGG1 may have a role in the repair of 8-OH-dG adducts in prostate tissue and hOGG1 Ser326Cys polymorphism is associated with prostate cancer risk.	Control:252 individually matched controls;Case:84 Caucasian incident primary prostate cancer cases										
132095		gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Hanaoka, T.  et al. 2001	11448535				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Japanese	Brazil|Japan	CDC GDPinfo	4968	Hs.380271			Cancer letters. 2001 Sep;170(1):53-61	hOGG1 exon7 polymorphism and gastric cancer in case-control studies of Japanese Brazilians and non-Japanese Brazilians.		601982	12990	2	2001	In the NJBs, a significant increased risk of smoking was shown only in the Ser/Ser type, and no increased risk was shown in the genotypes with the Cys allele. However, no statistically significant interactions were observed with smoking or other possible confounding factors. No statistically significant difference in the distribution of the polymorphism was observed between the intestinal type and diffuse type of gastric cancer in either the JBs or the NJBs. The ethnic difference in hOGG1 Ser326Cys polymorphism was much greater than the case-control difference, and this polymorphism is unlikely to be associated with gastric cancer.	Control controls were matched for each case group Sao Paulo, Brazil;Case:235 non-Japanese patients with newly diagnosed malignant neoplasms of the stomach in 13 hospitals in Sao Paulo (NJB group) Sao Paulo, Brazil;Case:96 Japanese patients with newly diagnosed malignant neoplasms of the stomach in 13 hospitals in Sao Paulo (JB group) Sao Paulo, Brazil										
132096		DNA damage, oxidative	OTHER	OTH	DNA Damage	3	3p26.2	OGG1	9765704	9783342		Tarng, D. C.  et al. 2001	11675410	1245C-->G			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			Journal of the American Society of Nephrology. 2001 Nov;12(11):2338-47	Effect of human OGG1 1245C-->G gene polymorphism on 8-hydroxy-2'-deoxyguanosine levels of leukocyte DNA among patients undergoing chronic hemodialysis.		601982	12991	2	2001	This study demonstrated that the extent of oxidative DNA damage among chronic hemodialysis patients not only is influenced by overproduction of reactive oxygen species resulting from leukocyte contacts with complement-activating membranes and by impaired antioxidant defense mechanisms but also is genetically determined.	Case:112 hemodialysis patients;Control:112 age-, gender-, and genotype-matched healthy control:subjects										
132097	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	3	3p26.2	OGG1	9765704	9783342		Le Marchand, L.  et al. 2002	11927502	Ser326Cys			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Hawaii	CDC GDPinfo	4968	Hs.380271			Cancer epidemiology, biomarkers & prevention. 2002 Apr;11(4):409-12	Association of the hOGG1 Ser326Cys polymorphism with lung cancer risk.		601982	12992	2	2002	These data suggest that the presence of two hOGG1 326Cys alleles confers a 2-fold increased risk of lung cancer. Additional studies need to be conducted to confirm this association.	Case:298 lung cancer cases;Control:405 controls of Caucasian, Japanese, or Native Hawaiian:ancestry	smoking (tobacco) vegetables									
132091	Y	Adenocarcinoma of the lung	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		Ito H et al. 2002	12164330	Ser326Cys			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Japan	KGB	4968	Hs.380271			Journal of epidemiology. 2002 May;12(3):258-65	A limited association of OGG1 Ser326Cys polymorphism for adenocarcinoma of the lung.		601982	4800	1	2002	This study supported the first study by Sugimura et	Case:138 cases of lung cancer;Control:241 non-cancer outpatients	smoking (tobacco)									
132092	Y	lung cancer risk	CANCER	CAN	Lung Neoplasms|DNA Damage	3	3p26.2	OGG1	9765704	9783342		Le Marchand L et al. 2002	11927502	Ser326Cys			8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Hawaii	KGB	4968	Hs.380271			Cancer epidemiology, biomarkers & prevention. 2002 Apr;11(4):409-12	Association of the hOGG1 Ser326Cys polymorphism with lung cancer risk.		601982	4801	1	2002	These data suggest that the presence of two hOGG1 326Cys alleles confers a 2-fold increased risk of lung cancer. Additional studies need to be conducted to confirm this association.	Case:298 lung cancer cases;Control:405 controls of Caucasian, Japanese, or Native Hawaiian:ancestry	smoking (tobacco) vegetables									
132094	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Xing, D.  et al. 2000	11110971				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Chinese		CDC GDPinfo	4968	Hs.380271			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):377-80	[Genetic polymorphism in hOGG1 and susceptibility to esophageal cancer in Chinese]		601982	12989	2	2000	 Polymorphism of hOGG1 Ser326Cys may play a role in esophageal carcinogenesis.	Case:196 patients with squamous cell carcinoma of the:esophagus;Control:201 normal controls	smoking (tobacco)									
132088		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	15	15q11.2-q12	OCA2	25673627	26018061		Jannot, A. S.  et al. 2005	15889046				Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1			CDC GDPinfo	4948	Hs.130937			European journal of human genetics. 2005 Aug;13(8):913-20	Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.		203200	23188	2	2005	Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma.	Control:105 Caucasian conrol subjects with no personal or family history of skin cancer;Case:113 patients with melanomas										
132089	Y	colorectal cancer	CANCER	CAN	Adenoma|Colonic Neoplasms|Genetic Predisposition to Disease|Recurrence	2	2p25	ODC1	10497958	10505904		Martinez, M. E.  et al. 2003	12810952				Ornithine decarboxylase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002539.1			CDC GDPinfo	4953	Hs.467701			Proceedings of the National Academy of Sciences of the United States of America. 2003 Jun;100(13):7859-64	Pronounced reduction in adenoma recurrence associated with aspirin use and a polymorphism in the ornithine decarboxylase gene.		165640	12988	2	2003	These findings confirm the hypothesis that the ODC polymorphism is a genetic marker for colon cancer risk, and support the use of ODC inhibitors and aspirin, or other nonsteroidal antiinflammatory drugs (NSAIDs), in combination as a strategy for colon cancer prevention.	Cohort 688 Men and women 40??80 years of age who had removal of one or more colorectal adenomas 3 mm or larger at colonoscopy within 3 months of study 	aspirin									
132090		gastric disease	OTHER	OTH	Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic	2	2p25	ODC1	10497958	10505904		You, W. C.  et al. 2005	15734972				Ornithine decarboxylase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002539.1	Chinese		CDC GDPinfo	4953	Hs.467701			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):451-8	Genetic polymorphisms of CYP2E1, GSTT1, GSTP1, GSTM1, ALDH2, and ODC and the risk of advanced precancerous gastric lesions in a Chinese population.		165640	27590	2	2005	These polymorphisms do not seem to govern progression from mild chronic atrophic gastritis to advanced precancerous gastric lesions, but the effects of smoking may be accentuated in individuals carrying variants of CYP2E1.	Control:302 subjects with mild chronic atrophic gastritis selected from a group of 2,628 individuals who had gastric biopsies Shandong Province, China:1989;Case:606 subjects with deep intestinal metaplasia or dysplasia selected from a group of 2,628 individuals who had gastric biopsies	alcohol Helicobacter pylori salt smoking (tobacco)									
132085		visual field defects	VISION	VIS		10	10q26	OAT	126075861	126097450		Hisama FM et al. 2001	11749107				ornithine aminotransferase (gyrate atrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB208817			KGB	4942	Hs.523332			Seizure	GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated visual field defects.		258870	4798	1	2001												
132086		lupus erythematosus; lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	19	19p13.3	OAZ1	2220519	2224487		Liang, D.  et al. 2005	16061000				Ornithine decarboxylase antizyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004152.2	Chinese		CDC GDPinfo	4946	Hs.446427			Zhonghua yi xue za zhi. 2005 Apr;85(14):949-54	[Variations within OLF1/EBF-associated zinc finger protein gene confer susceptibility to lupus nephritis in Chinese population]		601579	18748	2	2005	 SNP rs1344531 and some haplotypes containing SNP rs1344531 within OAZ are significantly associated with LN susceptibility. Genetic variants of the OAZ gene are involved in the pathogenesis of LN.											
132087		Prader-Willi and Angelman syndromes	OTHER	OTH	Angelman Syndrome|Prader-Willi Syndrome|Albinism, Oculocutaneous|Hypopigmentation	15	15q11.2-q12	OCA2	25673627	26018061		Brilliant MH et al. 1994	7761348				Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1			KGB	4948	Hs.130937	hypopigmentation		Pigment cell research. 1994 Dec;7(6):398-402	The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.		203200	4799	1	1994												
132082		hepatitis B	INFECTION	INF	Hepatitis B	12	12q24.2	OAS3	111860631	111895438		King, J. K.  et al. 2002	12447867				2'-5'-oligoadenylate synthetase 3, 100kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006187.2			CDC GDPinfo	4940	Hs.528634			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		603351	28181	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
132083		West Nile virus	INFECTION	INF	West Nile Fever|Genetic Predisposition to Disease	12	12q24.2	OASL	119942477	119961163		Yakub, I.  et al. 2005	16235172				2'-5'-oligoadenylate synthetase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003733.2			CDC GDPinfo	8638	Hs.118633			The Journal of infectious diseases. 2005 Nov;192(10):1741-8	Single Nucleotide Polymorphisms in Genes for 2'-5'-Oligoadenylate Synthetase and RNase L in Patients Hospitalized with West Nile Virus Infection.		603281	13517	2	2005	 Because the reference allele contains a splice enhancer site, our finding suggests that the RNA transcripts generated from this allele may undergo increased splicing, which results in a dominant-negative OASL isozyme similar to the nonsense/truncation mutant form of Oas1b in mice.											
132084	Y	gyrate atrophy	NEUROLOGICAL	NEUR	Gyrate Atrophy	10	10q26	OAT	126075861	126097450		Park JK et al. 1992	1301936				Ornithine aminotransferase (gyrate atrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000274.1			KGB	4942	Hs.523332			Human mutation. 1992 ;1(4):293-7	A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.		258870	4797	1	1992												
132078		hepatitis B	INFECTION	INF	Hepatitis B	12	12q24.1	OAS1	111829121	111842095		King, J. K.  et al. 2002	12447867				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2			CDC GDPinfo	4938	Hs.524760			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		164350	27981	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
132080		hepatitis B	INFECTION	INF	Hepatitis B	12	12q24.2	OAS2	111900656	111933911		King, J. K.  et al. 2002	12447867				2'-5'-oligoadenylate synthetase 2, 69/71kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016817.2			CDC GDPinfo	4939	Hs.414332			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		603350	28099	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
132081		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q24.2	OAS3	111860631	111895438		Tessier, M. C.  et al. 2005	16014697				2'-5'-oligoadenylate synthetase 3, 100kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006187.2			CDC GDPinfo	4940	Hs.528634			Journal of medical genetics. 2006 Feb;43(2):129-132	Type 1 diabetes and the OAS gene cluster:association with splicing polymorphism or haplotype?		603351	25394	2	2005	 We confirm the T1D association with rs10774671, but we conclude that it cannot be attributed (solely) to the splicing variant rs10774671. A serine/glycine substitution in OAS1 exon 3 is more likely a functional variant.											
132075		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q24.1	OAS1	111829121	111842095		Tessier, M. C.  et al. 2005	16014697				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2			CDC GDPinfo	4938	Hs.524760			Journal of medical genetics. 2006 Feb;43(2):129-132	Type 1 diabetes and the OAS gene cluster:association with splicing polymorphism or haplotype?		164350	18747	2	2005	 We confirm the T1D association with rs10774671, but we conclude that it cannot be attributed (solely) to the splicing variant rs10774671. A serine/glycine substitution in OAS1 exon 3 is more likely a functional variant.											
132076		severe acute respiratory syndrome	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	12	12q24.1	OAS1	111829121	111842095		Hamano, E.  et al. 2005	15766558				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2	Vietnamese	Vietnam	CDC GDPinfo	4938	Hs.524760			Biochemical and biophysical research communication	Polymorphisms of interferon-inducible genes OAS-1 and MxA associated with SARS in the Vietnamese population.		164350	23186	2	2005	Our findings suggest that polymorphisms of two IFN-inducible genes OAS-1 and MxA might affect susceptibility to the disease and progression of SARS at each level.	Control:103:controls;Case:44 Vietnamese SARS patients										
132077	Y	hepatitis C	INFECTION	INF	Hepatitis C	12	12q24.1	OAS1	111829121	111842095		Knapp, S.  et al. 2003	12944978				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2			CDC GDPinfo	4938	Hs.524760			Genes and immunity. 2003 Sep;4(6):411-9	Polymorphisms in interferon-induced genes and the outcome of hepatitis C virus infection: roles ofMxA, OAS-1 and PKR.		164350	25393	2	2003	Polymorphisms in the interferon-induced genes, MxA, OAS-1 and PKR appear thus associated with HCV outcome.	Cohort patients with hepatitis C virus infection 										
132072		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	7	7p22	NUDT1	2248382	2257306		Farrington, S. M.  et al. 2005	15931596				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDPinfo	4521	Hs.534331			American journal of human genetics. 2005 Jul;77(1):112-9	Germline susceptibility to colorectal cancer due to base-excision repair gene defects.		600312	23185	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 population-based colorectal cancer cases										
132073		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	7	7p22	NUDT1	2248382	2257306		Liu, Y.  et al. 2005	15654505				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3	Japanese	Japan	CDC GDPinfo	4521	Hs.534331			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		600312	28355	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
132074	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q24.1	OAS1	111829121	111842095	0.021	J Med Genet Published Online First: 13 July 2005.	16014697		Combined effects	coding sequence	2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2	Canadian Caucasian		HQQ	4938	Hs.524760	Type 1 Diabetes		Journal of medical genetics. 2006 Feb;43(2):129-132	Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?		164350	4796	1	2005	 We confirm the T1D association with rs10774671, but we conclude that it cannot be attributed (solely) to the splicing variant rs10774671. A serine/glycine substitution in OAS1 exon 3 is more likely a functional variant.	Case:784; Control:1568										
132069	N	cancer	NORMALVARIATION	NV		7	7p22	NUDT1	2248382	2257306		Jiang, G. F.  et al. 2005	15730954			coding sequence	Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3	Chinese		CDC GDPinfo	4521	Hs.534331			Yi chuan. 2005 Jan;27(1):25-9	[Genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population]		600312	12984	2	2005	The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49%, respectively. A T to C polymorphism was detected at codon 45 in exon3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23%, respectively. A C to T polymorphism was detected at codon 119 in exon5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03%, respectively.	Cohort 172 Chinese Han people 										
132070		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	7	7p22	NUDT1	2248382	2257306		Kim, I. J.  et al. 2004	15449173				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3		Korea	CDC GDPinfo	4521	Hs.534331			Human genetics. 2004 Nov;115(6):498-503	Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients:R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.		600312	23183	2	2004	This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.	Case:19/86/246 hereditary nonpolyposis colorectal cancer (HNPCC, n=19), suspected HNPCC (n=86), and sporadic colorectal cancer cases (n=246);Control:527 normal controls										
132071		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	7	7p22	NUDT1	2248382	2257306		Farrington, S. M.  et al. 2005	15931596				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDPinfo	4521	Hs.534331			American journal of human genetics. 2005 Jul;77(1):112-9	Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects		600312	23184	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 colorectal cancer cases										
132065		schizophrenia	PSYCH	PSY		20	20q13-20q13	NTSR1	60810633	60864568		Austin J et al. 2000	11032391				Neurotensin receptor 1 (high affinity)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002531.1			KGB	4923	Hs.590869			Molecular psychiatry. 2000 Sep;5(5):552-7	The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia.		162651	4791	1	2000												
132067	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7p22	NUDT1	2248382	2257306		Satoh, J.  et al. 2000	11136354				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDPinfo	4521	Hs.534331			European journal of neurology. 2000 Nov;7(6):673-7	A valine to methionine polymorphism at codon 83 in the 8-oxo-dGTPase gene MTH1 is not associated with sporadic Parkinson's disease.		600312	12982	2	2000	These results indicate that the 83Val/Met polymorphism in the MTH1 gene is not associated with an increased risk for development of sporadic PD.	Control:151 age-matched non-PD controls;Case:73 patients with sporadic Parkinson's disease										
132068		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	7	7p22	NUDT1	2248382	2257306		Miyako, K.  et al. 2004	15516784				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3	Japanese	Japan	CDC GDPinfo	4521	Hs.534331			Endocrine journal. 2004 Oct;51(5):493-8	Association study of human MTH1 gene polymorphisms with type 1 diabetes mellitus.		600312	12983	2	2004	Our results suggested that the Met allele at codon 83 of MTH1 gene might be involved in the development of type 1 diabetes mellitus in the Japanese female population.	Control:controls;Case:156 type 1 diabetic patients (59 males and 97 females)										
132061	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q21-q22	NTRK1	155052165	155118266		Sakasegawa, Y.  et al. 2003	14642435				Neurotrophic tyrosine kinase, receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012331.1	Japanese	Japan	CDC GDPinfo	4914	Hs.406293			Neuroscience letters. 2003 Dec;353(1):49-52	Lack of association between TrkA single nucleotide polymorphisms and sporadic Alzheimer's disease in a Japanese population.		191315	12981	2	2003	Thus, the TrkA genotype does not appear to influence the risk of developing sporadic AD in a Japanese population.	Control:112:controls;Case:114 Japanese patients with sporadic Alzheimer's disease										
132062		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease	12	12q21	NTS	84792205	84800896		Austin J et al. 2000	10909129				Neurotensin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006183.3		Wales	KGB	4922	Hs.80962			Psychiatric genetics. 2000 Mar;10(1):51-4	Association analysis of the proneurotensin gene and bipolar disorder.		162650	4788	1	2000												
132063		schizophrenia	PSYCH	PSY		12	12q21	NTS	84792205	84800896		Austin J et al. 2000	10822351				Neurotensin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006183.3			KGB	4922	Hs.80962			Molecular psychiatry. 2000 Mar;5(2):208-12	Comparative sequencing of the proneurotensin gene and association studies in schizophrenia.		162650	4789	1	2000												
132064		Schizophrenia	PSYCH	PSY		20	20q13-20q13	NTSR1	60810633	60864568		Huezo-Diaz P 2004	15061255				Neurotensin receptor 1 (high affinity)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002531.1			KGB	4923	Hs.590869			Schizophrenia research. 2004 Feb;66(3-Feb):193-5	An association study of the neurotensin receptor gene with schizophrenia and clozapine response.		162651	4790	1	2004												
132057	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	12	12p13	NTF3	5411747	5474726		Tadokoro, K.  et al. 2004	15365216				Neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			CDC GDPinfo	4908	Hs.99171			Neuropsychobiology. 2004 ;50(3):206-10	Analysis of enhancer activity of a dinucleotide repeat polymorphism in the neurotrophin-3 gene and its association with bipolar disorder.		162660	12979	2	2004	Our results suggest that the examined polymorphism has no major role in giving susceptibility to bipolar disorder. Although the polymorphic region may have an enhancer-like effect on transcriptional activity, we obtained no evidence for allele-dependent differential effects.	Case:88 bipolar disorder patients;Control:98 controls matched for age, sex, and ethnicity										
132058	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NT3	5473526	5474726		Lin, P. Y.  et al. 2004	15474906				3'-nucleotidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527			CDC GDPinfo	4908	Hs.99171			Schizophrenia research. 2004 Dec;71(3-Feb):353-60	Meta-analyses of the association between genetic polymorphisms of neurotrophic factors and schizophrenia.			23182	2	2004	These results suggested that the variations at the NT3 and the CNTF genes do not influence the schizophrenia risk, but a role in the susceptibility of subgroups of the patients cannot be excluded.	Cohort 1,938 individuals from 8 studies Cohort 2,393 individuals from 9 studies 										
132059		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3	NTNG1	107484267	107825998		Alansari, A.  et al. 2004	15494819				Netrin G1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014917.2		Saudi Arabia	CDC GDPinfo	22854	Hs.143707			Saudi medical journal. 2004 Oct;25(10):1445-8	Fc receptor gamma subunit polymorphisms and systemic lupus erythematosus.		608818	12980	2	2004	 Fc receptor gamma gene does not appear to contribute to SLE susceptibility. The identified polymorphisms may be useful in investigating other diseases where receptors containing the FcR gamma subunit contribute to the pathology.	Control Turkish, Spanish and Caucasian controls;Case Turkish, Spanish and Caucasian systemic lupus erythematosus cases:UK:2001										
132052	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NTF3	5411747	5474726	n	Nimgaonkar VL et al. 1995	8837975				Neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			KGB	4908	Hs.99171			Acta psychiatrica Scandinavica. 1995 Dec;92(6):464-6	Lack of association of schizophrenia with the neurotrophin-3 gene locus.		162660	4784	1	1995												
132054		schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NTF3	5411747	5474726		Dawson E et al. 1995	8837968				neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			KGB	4908	Hs.99171			Acta psychiatrica Scandinavica. 1995 Dec;92(6):425-8	An association study of a neurotrophin-3 (NT-3) gene polymorphism with schizophrenia.		162660	4786	1	1995												
132055	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NTF3	5411747	5474726		Nanko S et al. 1994	8085468				neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			KGB	4908	Hs.99171			Acta psychiatrica Scandinavica. 1994 Jun;89(6):390-2	Neurotrophin-3 gene polymorphism associated with schizophrenia		162660	4787	1	1994												
132056		schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NTF3	5411747	5474726		Hattori, M.  et al. 2002	11920853			promoter	Neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			CDC GDPinfo	4908	Hs.99171			American journal of medical genetics. 2002 Apr;114(3):304-9	Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia.		162660	12978	2	2002	Our results suggest that the G(- 3004)-A3 haplotype has a modest effect of giving susceptibility to schizophrenia.	Case:184 schizophrenic patients;Control:185:controls										
132048	Y	congenital anomalies	DEVELOPMENTAL	DEV	Chromosome Deletion|Syndrome|Growth Disorders	5	5q35.2-q35.3	NSD1	176492631	176655369		Cecconi, M.  et al. 2005	15742365				Nuclear receptor binding SET domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172349.1			CDC GDPinfo	64324	Hs.106861			American journal of medical genetics Part A. 2005 Apr;134(3):247-53	Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.		606681	18742	2	2005	All patients with confirmed mutations shared the typical Sotos facial gestalt. A high frequency of congenital heart defects was present in patients with intragenic mutations, supporting the relevance of the NSD1 gene in the pathogenesis of this particular defect.	Cohort 59 patients with congenital overgrowth 										
132049		pyrimidine 5' nucleotidase-I deficiency	OTHER	OTH	Anemia, Hemolytic, Congenital	17	17q25.1	NT5C	70637917	70639472		Balta G 2003	12714505				5', 3'-nucleotidase, cytosolic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014595.1		Turkey	KGB	30833	Hs.67201			Blood. 2003 Sep;102(5):1900-3	Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.		191720	6754	1	2003												
132050		schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	12	12p13	NTF3	5411747	5474726		Gill M et al. 1996	9149322				Neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			KGB	4908	Hs.99171			Psychiatric genetics. 1996 ;6(4):183-6	Neurotrophin-3 gene polymorphisms and schizophrenia: no evidence for linkage or association.		162660	4782	1	1996	We conclude that  mutations or polymorphisms at this gene are unlikely to be involved in the genetic aetiology of schizophrenia.											
132044		infertility, male	REPRODUCTION	REP	Infertility, Male	21	21q11.2	NRIP1	15255426	15262718		Galan, J. J.  et al. 2005	16213843				Nuclear receptor interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003489.2			CDC GDPinfo	8204	Hs.155017			Fertility and sterility. 2005 Oct;84(4):910-8	Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology.		602490	27165	2	2005												
132045	Y	retinitis pigmentosa	OTHER	OTH	Retinitis Pigmentosa	14	14q11.1-q11.2	NRL	23619155	23654063		Martinez-Gimeno M et al. 2001	11385710				Neural retina leucine zipper	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006177.2			KGB	4901	Hs.89606			Human mutation. 2001 Jun;17(6):520	Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.		162080	4780	1	2001												
132047		Sotos syndrome	DEVELOPMENTAL	DEV	Abnormalities, Multiple|Endocrine System Diseases|Growth Disorders	5	5q35.2-q35.3	NSD1	176492631	176655369		De Boer, L.  et al. 2004	15362962				Nuclear receptor binding SET domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172349.1			CDC GDPinfo	64324	Hs.106861			European journal of endocrinology. 2004 Sep;151(3):333-41	Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system.		606681	18741	2	2004	 NSD1(+/-) patients show endocrine and paracrine changes in the IGF system. These changes may contribute to the abnormal growth pattern.	Control reference controls;Case:29 patients suspected of Sotos syndrome										
132041		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615			16326006				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Japanese		CDC GDPinfo	3084	Hs.453951			Neuroscience letters. 2005	Supportive evidence for neuregulin 1 as a susceptibility gene for schizophrenia in a Japanese population		142445	18738	2	2005												
132042		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Norton, N.  et al. 2005	16249994				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):96-101	Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia.		142445	23181	2	2005												
132043		endometriosis	REPRODUCTION	REP		21	21q11.2	NRIP1	15255426	15262718		Caballero, V.  et al. 2005	16131398				Nuclear receptor interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003489.2			CDC GDPinfo	8204	Hs.155017			Journal of experimental & clinical assisted reproduction [electronic resource]. 2005 Aug;2:11	Preliminary molecular genetic analysis of the Receptor Interacting Protein 140 (RIP140) in women affected by endometriosis.		602490	18739	2	2005	 Our results suggest that NRIP1 gene variants, separately or in combinations, might act as predisposing factors for human endometriosis.											
132038		schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Gardner, M.  et al. 2005	16189508				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			Molecular psychiatry. 2006 Jan;11(1):66-75	Extreme population differences across Neuregulin 1 gene, with implications for association studies.		142445	18735	2	2005												
132039		schizotypal personality	PSYCH	PSY	Perceptual Disorders|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Lin, H. F.  et al. 2005	16219117				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			Psychological medicine. 2005 Nov;35(11):1589-98	Neuregulin 1 gene and variations in perceptual aberration of schizotypal personality in adolescents.		142445	18736	2	2005	 Our study provides the first evidence for the association of NRG1 with schizotypal personality and indicates a possible role of NRG1 in the genetic etiology of schizophrenia through perceptual aberrations.											
132040		schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Duan, J.  et al. 2005	16219118				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			Psychological medicine. 2005 Nov;35(11):1599-610	Neuregulin 1 (NRG1 ) and schizophrenia: analysis ofa US family sample and the evidence in the balance.		142445	18737	2	2005	 Our failure to find an association between NRG1 and schizophrenia might reflect different linkage disequilibrium (LD) patterns found in different populations, disease allelic heterogeneity, clinical heterogeneity of schizophrenia, or inadequate statistical power deriving from moderate sample size. NRG1, if a true gene for schizophrenia, accounts for a small fraction of the disease in most populations. The confirmation of NRG1 as a schizophrenia susceptibility gene will require studies with a comprehensive set of markers and in larger samples. The possibility remains that reports of NRG1 association might reflect false positives.											
132035	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Li, T.  et al. 2004	15007393				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Chinese	China|Scotland|Iceland	CDC GDPinfo	3084	Hs.453951			Molecular psychiatry. 2004 Jul;9(7):698-704	Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype.		142445	18732	2	2004	We conclude that  different haplotypes within the boundaries of the NRG1 gene may be associated with schizophrenia in the Han Chinese.	Case Chinese schizophenic patients;Control unrelated controls										
132036		schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Kampman, O.  et al. 2004	15538186				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Finnish		CDC GDPinfo	3084	Hs.453951			Neuroreport. 2004 Nov;15(16):2517-20	Neuregulin genotype and medication response in Finnish patients with schizophrenia.		142445	18733	2	2004	Further studies are needed to ascertain the significance of neuregulin genotype in medication response to schizophrenia.	Control:395 control subjects of Finnish origin;Case:94 patients with schizophrenia:Finland	antipsychotic drug									
132037		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Green, E. K.  et al. 2005	15939841				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			Archives of general psychiatry. 2005 Jun;62(6):642-8	Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder.		142445	18734	2	2005	 Our findings suggest that neuregulin 1 plays a role in influencing susceptibility to bipolar disorder and schizophrenia and that it may exert a specific effect in the subset of functional psychosis that has manic and mood-incongruent psychotic features.											
132032		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Williams, N. M.  et al. 2003	12808428				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	European	Iceland	CDC GDPinfo	3084	Hs.453951			Molecular psychiatry. 2003 May;8(5):485-7	Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia.		142445	18729	2	2003	Our results therefore replicate the Icelandic findings in an out-bred Northern European population, although they suggest that the risk conferred by the haplotype is small.	Case:573 schizophrenic patients;Control:618:controls										
132033	N	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Iwata, N.  et al. 2003	14699424				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Japanese		CDC GDPinfo	3084	Hs.453951			Molecular psychiatry. 2004 Feb;9(2):126-7	No association with the neuregulin 1 haplotype to Japanese schizophrenia		142445	18730	2	2003	Our results do not support a role for NRG1 in coffering susceptibility to schizophrenia.	Control:515`:controls;Case:607 Japanese schizophrenic patients										
132034		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Corvin, A. P.  et al. 2004	14966480				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1		Ireland	CDC GDPinfo	3084	Hs.453951			Molecular psychiatry. 2004 Feb;9(2):208-13	Confirmation and refinement of an 'at-risk' haplotype for schizophrenia suggests the EST cluster, Hs.97362, as a potential susceptibility gene at the Neuregulin-1 locus		142445	18731	2	2004	Interestingly, this refined 'at-risk' haplotype is positioned close to an EST cluster of unknown function (Hs.97362) within intron 1 of NRG1.	Control:controls;Case schizophenic patients:Scotland										
132029		Alzheimer's disease; psychoses	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Psychotic Disorders	8	8p21-p12	NRG1	31616809	32741615		Go, R. C.  et al. 2005	16082692				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):28-32	Neuregulin-1 polymorphism in late onset Alzheimer's disease families with psychoses.		142445	12975	2	2005												
132031	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Stefansson, H.  et al. 2002	12478479				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1		Scotland	CDC GDPinfo	3084	Hs.453951			American journal of human genetics. 2003 Jan;72(1):83-7	Association of neuregulin 1 with schizophrenia confirmed in a Scottish population.		142445	18728	2	2002	This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia.	Case:609 unrelated Scottish patients with schizophrenia:Scotland;Control:618 unrelated Scottish controls										
132026	Y	Schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615	P=.00031	Stefansson H 2003	12478479	Haplotype (5 SNPs and 2 microsatellites)	Unknown	5'promoter	Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Scottish	Scotland	kgb	3084	Hs.453951	Schizophrenia		American journal of human genetics. 2003 Jan;72(1):83-7	Association of Neuregulin with Schizophrenia Confirmed in a Scottish Population		142445	3108	1	2003	This direct replication of haplotype association in a second population further implicates NRG1 as a factor that contributes to the etiology of schizophrenia.	Case:609 unrelated Scottish patients with schizophrenia:Scotland;Control:618 unrelated Scottish controls										
132027	N	Schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Gibson AM 2004	14729827				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			KGB	3084	Hs.453951			Journal of medical genetics. 2004 Jan;41(1):31-4	A case control and family based association study of the neuregulin1 gene and schizophrenia.		142445	3109	1	2004												
132028	N	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Hong, C. J.  et al. 2004	15276238	(Arg38Gln)			Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Chinese		CDC GDPinfo	3084	Hs.453951			Neuroscience letters. 2004 Aug;366(2):158-61	Case-control and family-based association studies between the neuregulin 1 (Arg38Gln) polymorphism and schizophrenia		142445	12974	2	2004	We conclude that  NRG1 Arg38Gln polymorphism is not likely to play a major role in the pathogenesis of schizophrenia in Chinese populations.	Case:228 Chinese schizophrenic disorder patients;Control:269:controls										
132023	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	1	1p13.2	NRAS	115051107	115061038		Barletta, E.  et al. 2004	14688017				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDPinfo	4893	Hs.486502			Carcinogenesis. 2004 May;25(5):749-55	Ras gene mutations in patients with acute myeloid leukaemia and exposure to chemical agents.		164790	23180	2	2004	In conclusion, our data suggest that ras oncogene mutations might identify a group of leukaemia in people with previous X-ray/chemotherapy or with exposure to chemical agents in the work environment.	Case:111 acute myeloid leukaemia patients Florence and Turin, Italy	chemical agents chemotherapy radiation									
132024		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	1	1p13.2	NRAS	115051107	115061038		Schnittger, S.  et al. 2005	16076867				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDPinfo	4893	Hs.486502			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		164790	27589	2	2005												
132025	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q32	NRF1	129038790	129184158		Cho, Y. M.  et al. 2005	16082529				Nuclear respiratory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005011.3	Korean	Korea	CDC GDPinfo	4899	Hs.298069			Diabetologia. 2005 Oct;48(10):2033-8	Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population.		600879	12973	2	2005												
132019	Y	micropenis	DEVELOPMENTAL	DEV	Genetic Predisposition to Disease	9	9q33	NR5A1	126283335	126309520		Wada, Y.  et al. 2005	16127213	Gly146Ala			Nuclear receptor subfamily 5, group A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004959.3			CDC GDPinfo	2516	Hs.495108			Endocrine journal. 2005 Aug;52(4):445-8	Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.		184757	12972	2	2005												
132020	N	acute lymphoblastic leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	1	1p13.2	NRAS	115051107	115061038	n	Clementino NC et al. 2001	11699412				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1		Brazil	KGB	4893	Hs.486502			Leukemia & lymphoma. 2001 Jul;42(3):473-9	Lack of association between N-ras gene mutations and clinical prognosis in Brazilian children with acute lymphoblastic leukemia.		164790	4778	1	2001												
132022		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	1	1p13.2	NRAS	115051107	115061038		Akslen, L. A.  et al. 2005	16098042				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDPinfo	4893	Hs.486502			The Journal of investigative dermatology. 2005 Aug;125(2):312-7	BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival.		164790	23179	2	2005												
132016		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	2	2q22-q23	NR4A2	156889194	156897446		Levecque, C.  et al. 2004	15276233				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2	French		CDC GDPinfo	4929	Hs.563344			Neuroscience letters. 2004 Aug;366(2):135-8	Assessment of Nurr1 nucleotide variations in familial Parkinson's disease.		601828	18726	2	2004	Our results failed to replicate the association initially observed and none of the mutations were present in our familial Parkinson's disease cases. These observations suggest that this gene is unlikely to play a major effect in French familial Parkinson disease.	Case Parkinson's disease patients:France;Control:controls										
132017		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Tan, E. K.  et al. 2004	15390059				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2	Chinese	Asia|Great Britain	CDC GDPinfo	4929	Hs.563344			Movement disorders. 2004 Dec;19(12):1503-5	Nurr1 mutational screen in Parkinson's disease.		601828	18727	2	2004	We demonstrated a 5 to 10% prevalence of the intron 7 +33 C-->T variant among Malay and Indian PD and healthy controls, suggesting that this variant, which was previously described only in 1 Chinese patient, was not a silent mutation but a common polymorphic variant in some ethnic races.	Case Malay and Indian Parkinson's disease patients Malasia and India;Control healthy controls										
132018	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	2	2q22-q23	NR4A2	156889194	156897446		Feng, J.  et al. 2005	15635645				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		601828	19296	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
132013		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Tan, E. K.  et al. 2003	12875905				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			Neuroscience letters. 2003 Aug;347(3):139-42	Genetic analysis of Nurr1 haplotypes in Parkinson's disease.		601828	18723	2	2003	In conclusion, we demonstrated a large common haplotype block spanning the Nurr1 gene in our population. The intron 7+33 C-->T variant most likely represents either a non-functional mutation or a rare polymorphism in our study population. Our study suggests that Nurr1 variability is unlikely to play a major role in the majority of our PD patients.	Case:202 Parkinson's disease patients;Control:202 age, gender and race matched controls										
132014		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Nichols, W. C.  et al. 2004	15197702				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			Movement disorders. 2004 Jun;19(6):649-55	Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease.		601828	18724	2	2004	Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients.	Control:217 healthy controls from 217 families;Case:783 Parkinson's disease patients from 372 families										
132015		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q22-q23	NR4A2	156889194	156897446		Ruano, D.  et al. 2004	15211629				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2		Brazil|Portugal	CDC GDPinfo	4929	Hs.563344			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):41-5	NR4A2 and schizophrenia: Lack of association in aPortuguese/Brazilian study		601828	18725	2	2004	The study failed to identify any of the described mutations in patients or controls. Nevertheless, these negative results do not exclude altered expression of nuclear receptors in schizophrenia or the presence of other mutations.	Control:controls;Case:176/82 Caucasian Portuguese (n=176) and Caucasian Brazilian (n=82) subjects with lifetime diagnosis of schizophrenia										
132010	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Xu, P. Y.  et al. 2002	11914402			intron	Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			Neurology. 2002 Mar;58(6):881-4	Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.		601828	18720	2	2002	 The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.	Case:105/120 patients with familial PD (n=105) and patients with sporadic PD (n=120);Control:221 age-matched healthy control subjects										
132011	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Le, W. D.  et al. 2002	12496759				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			Nature genetics. 2003 Jan;33(1):85-9	Mutations in NR4A2 associated with familial Parkinson disease.		601828	18721	2	2002	These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.	Case:201 individuals affected with Parkinson's disease;Control:221 age-matched unaffected controls										
132012	N	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q22-q23	NR4A2	156889194	156897446		Iwayama-Shigeno, Y.  et al. 2003	12627459				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2	Japanese		CDC GDPinfo	4929	Hs.563344			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):20-4	Distribution of haplotypes derived from three common variants of the NR4A2 gene in Japanese patients with schizophrenia.		601828	18722	2	2003	These data do not support the notion that the NR4A2 gene plays a major role in risk for schizophrenia among Japanese individuals.	Case Japanese schizoprhenic patients;Control:controls										
132007	N	Parkinson's disease; schizophrenia; personality traits	NEUROLOGICAL	NEUR	Parkinson Disease|Schizophrenia	2	2q22-q23	NR4A2	156889194	156897446		Carmine, A.  et al. 2003	12815740			promoter	Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2		Sweden	CDC GDPinfo	4929	Hs.563344			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):51-7	NURR1 promoter polymorphisms: Parkinson's disease,schizophrenia, and personality traits.		601828	12970	2	2003	We conclude that  the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material.	Case:108 Swedish subjects with Parkinson's disease:Sweden;Control:125 matched controls to Parkinson's cases;Case:134 Swedish subjects with schizophrenia:Sweden;Control:139 American matched controls;Case:141 American subjects with schizophrenia:US;Control:207 matched controls to schizophrenic subjects										
132008		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	2	2q22-q23	NR4A2	156889194	156897446		Smith, K. M.  et al. 2005	15635701				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):57-63	Identification and characterization of human NR4A2 polymorphisms in attention deficit hyperactivity disorder.		601828	12971	2	2005	Identification of these polymorphisms may aid future candidate gene studies in disorders with altered dopamine signaling, such as schizophrenia Parkinson's disease and ADHD.	Case:103 attention deficit hyperactivity disorder cases from the Milwaukee Longitudinal Study of ADHD;Control:66 controls from the Milwaukee Longitudinal Study of:ADHD										
132009	Y	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q22-q23	NR4A2	156889194	156897446		Chen, Y. H.  et al. 2001	11803525				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			American journal of medical genetics. 2001 Dec;105(8):753-7	Mutation analysis of the human NR4A2 gene, an essential gene for midbrain dopaminergic neurogenesis, in schizophrenic patients.		601828	18719	2	2001	The result suggests that the c.-469delG and possibly other variants of the NR4A2 gene may be of relevance to the complex factors involved in the pathogenesis of schizophrenia.	Control:130 nonpsychotic controls;Case:77 schizophrenic patients										
132004		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Tan EK 2003	12875905				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			KGB	4929	Hs.563344			Neuroscience letters. 2003 Aug;347(3):139-42	Genetic analysis of Nurr1 haplotypes in Parkinson's disease.		601828	4794	1	2003	In conclusion, we demonstrated a large common haplotype block spanning the Nurr1 gene in our population. The intron 7+33 C-->T variant most likely represents either a non-functional mutation or a rare polymorphism in our study population. Our study suggests that Nurr1 variability is unlikely to play a major role in the majority of our PD patients.	Case:202 Parkinson's disease patients;Control:202 age, gender and race matched controls										
132005	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Neurogenetics. 2003 Aug;4(4):219-20.	12827450				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2	Caucasian		AZ	4929	Hs.563344			Neurogenetics. 2003 Aug;4(4):219-20	Point mutations in exon 1 of the NR4A2 gene are not a major cause of familial Parkinson's disease.		601828	4795	1	2003		Case:44 cases of familial Parkinson?s disease										
132006	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Zheng, K.  et al. 2003	12756136				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDPinfo	4929	Hs.563344			Archives of neurology. 2003 May;60(5):722-5	A common NURR1 polymorphism associated with Parkinson disease and diffuse Lewy body disease.		601828	12969	2	2003	 The common heterozygous NI6P is associated with an increased risk of PD. An association of borderline significance was found for the homozygous NI6P and diffuse Lewy body disease.	Case:37/35 Patients with pathologically proven PD (n = 37) or diffuse Lewy body disease (n = 35);Control:59/66/29 neuropathologically normal control subjects (n = 59), those clinically diagnosed as having PD (n = 66), and spousal controls (n = 29)										
132000		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	4	4q31.1	NR3C2	149219369	149582973		Matayoshi, T.  et al. 2004	15824464				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDPinfo	4306	Hs.163924			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		600983	28354	2	2004			thiazide diuretics									
132001		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.1	NR3C2	149219369	149582973		Liljedahl, U.  et al. 2003	12544508				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDPinfo	4306	Hs.163924			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		600983	28552	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
132002	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446		Xu PY et al. 2002	11914402			intron	Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			KGB	4929	Hs.563344			Neurology. 2002 Mar;58(6):881-4	Association of homozygous 7048G7049 variant in the intron six of Nurr1 gene with Parkinson's disease.		601828	4792	1	2002	 The homozygote polymorphism of 7048G7049 in intron 6 of the Nurr1 gene is associated with typical PD.	Case:105/120 patients with familial PD (n=105) and patients with sporadic PD (n=120);Control:221 age-matched healthy control subjects										
131997		aldosterone	METABOLIC	MET		4	4q31.1	NR3C2	149219369	149582973		Kathiresan, S.  et al. 2005	15882548				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDPinfo	4306	Hs.163924			American journal of hypertension. 2005 May;18(5 Pt 1):657-65	Clinical and genetic correlates of serum aldosterone in the community: the Framingham HeartStudy.		600983	23178	2	2005	 We observed a complex relation between serum aldosterone and vascular risk factors. The genetic contribution to serum aldosterone level was modest.	Cohort 2,891 Framingham Offspring Study participants (53.2% women, mean age 59 years) 										
131998		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	4	4q31.1	NR3C2	149219369	149582973		Tempfer, C. B.  et al. 2004	15120696				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDPinfo	4306	Hs.163924			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		600983	27588	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
131999		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.1	NR3C2	149219369	149582973		Poch, E.  et al. 2001	11711524				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDPinfo	4306	Hs.163924			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		600983	27816	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
131994		celiac disease	IMMUNE	IMM	Celiac Disease	5	5q31	NR3C1	142637688	142795270		Ryan, A. W.  et al. 2005	15713213				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		Ireland	CDC GDPinfo	2908	Hs.122926			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		138040	27587	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
131995		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	4	4q31.1	NR3C2	149219369	149582973		Schmider-Ross, A.  et al. 2004	15117605				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1	Turkish		CDC GDPinfo	4306	Hs.163924			Hypertension in pregnancy. 2004 ;23(1):113-9	Analysis of the S810L point mutation of the mineralocorticoid receptor in patients with pregnancy-induced hypertension.		600983	18717	2	2004	 Our data suggest that the S810L missense mutation of the mineralocorticoid receptor does not play a major role in the etiology of pregnancy-induced hypertension in a German /Turkish population.	Cohort 38 women with hypertension during pregnancy 										
131996		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.1	NR3C2	149219369	149582973		Sugiyama, T.  et al. 2001	11675945				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1	Japanese	Japan	CDC GDPinfo	4306	Hs.163924			Hypertension research. 2001 Sep;24(5):515-21	Evaluation of selected polymorphisms of the Mendelian hypertensive disease genes in the Japanese population.		600983	23177	2	2001	Our data did not support the association between Mendelian disease gene variants and essential hypertension in the Japanese. However, the present study did not definitively resolve this issue and further investigation is certainly warranted.	Case:247 severe hypertensive patients with early onset (<45:years);Control:291 older normotensive subjects (>60 years)										
131992		hyperandrogenism; premature pubarche	METABOLIC	MET	Hirsutism|Puberty, Precocious|Hyperandrogenism|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Witchel, S. F.  et al. 2001	11287026				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Fertility and sterility. 2001 Apr;75(4):724-30	Candidate gene analysis in premature pubarche and adolescent hyperandrogenism		138040	27164	2	2001	Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome.	Control:15 healthy control women;Case:29 adolescent girls with hyperandrogenism										
131993		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31	NR3C1	142637688	142795270		Poch, E.  et al. 2001	11711524				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		138040	27586	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
131989		depressive disorder, major	PSYCH	PSY	Recurrence|Depressive Disorder, Major	5	5q31	NR3C1	142637688	142795270		van West, D.  et al. 2005	16192984				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Neuropsychopharmacology. 2005	Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression.		138040	18716	2	2005												
131991		insulin; lipoproteins	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		Ukkola, O.  et al. 2001	11229437				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Metabolism:  clinical and experimental. 2001 Feb;50(2):246-52	Interactions among the glucocorticoid receptor, lipoprotein lipase, and adrenergic receptor genes and plasma insulin and lipid levels in the Quebec Family Study		138040	25392	2	2001	multiple interactions among GRL, LPL, and ADR gene markers contribute to insulin metabolism and perhaps to lipid levels, while no significant effect is found for each gene separately. The LPL locus appears to determine the pattern of interactions with ADR and GRL loci. These results suggest that gene-gene interaction effects could play a role in the etiology of risk factors for common chronic diseases.	Cohort 742 individuals from phase 2 of the Quebec Family Study (QFS) cohort 										
131986	N	diabetes, type 2; hypertension; obesity	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity	5	5q31	NR3C1	142637688	142795270		Lin, R. C.  et al. 2003	12805402				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Obesity research. 2003 Jun;11(6):802-8	Association of obesity, but not diabetes or hypertension, with glucocorticoid receptor N363S variant.		138040	18712	2	2003	The NR3C1 N363S variant is associated with obesity and overweight in a range of patient settings but is not associated with hypertension or type 2 diabetes.	Case:152/356/141 an obesity clinic group, most of whom had "morbid obesity" (mean BMI for group = 43 +/- 8 kg/m(2); n = 152); 2) a type 2 diabetes clinic group (n = 356); 3) patients with essential hypertension who had a strong family history (n = 141);Control:302 normal healthy controls										
131988		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	5	5q31	NR3C1	142637688	142795270		Lee, Y. M.  et al. 2004	15212141				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The Tohoku journal of experimental medicine. 2004 Jun;203(2):69-76	A mutation of the glucocorticoid receptor gene in patients with systemic lupus erythematosus		138040	18714	2	2004	The identified mutation of the GR gene may represent a polymorphism associated with SLE.	Control:52 healthy individuals;Case:66 patients with systemic lupus erythematosus										
131984	Y	body fat	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270		Ukkola, O.  et al. 2001	11571596				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		Quebec	CDC GDPinfo	2908	Hs.122926			International journal of obesity and related metabolic disorders. 2001 Sep;25(9):1332-9	Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Qu????bec Family Study.		138040	18709	2	2001	 There is an association between the GRL BclI polymorphism and increased AVF levels independent of the level of total body fat. The alpha 2-ADR DraI variant is associated with a lower cross-sectional area of abdominal total fat. Numerous interactions between GRL and ADR markers on overall adiposity and total abdominal fat as well as between GRL, LPL and ADR genes on overall adiposity, abdominal total and visceral fat suggest that the genetic architecture of body fat content and adipose tissue distribution is complex although some genes, like GRL, may have ubiquitous effects.	Cohort 742 individuals from the phase 2 of the Quebec Family Study cohort 										
131985		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Lin, R. C.  et al. 2003	12623935				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Hypertension. 2003 Mar;41(3):404-7	Association of coronary artery disease with glucocorticoid receptor N363S variant.		138040	18711	2	2003	The data suggest a role for glucocorticoid receptor variation in the underlying cause of CAD.	Control:302:controls;Case:437 patients with coronary artery disease:Sydney, Australia										
131982		osteoporosis, postmenopausal	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		Majnik, J.  et al. 2004	15698551	Asn363Ser			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):465-8	A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene.		138040	12968	2	2004	When compared to currently used PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing methods, the new allele-specific PCR method showed 100% accuracy for the detection of Asn363Asn and Asn363Ser genotypes. The feasibility of these methods were tested in 301 patients, including 47 patients with postmenopausal osteoporosis in whom the frequency of Asn363Ser polymorphism was similar to that found in control subjects (4.3% versus 4.4%).	Control control subjects;Case:301 patients, including 47 patients with postmenopausal:osteoporosis										
131983	N	polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	5	5q31	NR3C1	142637688	142795270		Kahsar-Miller, M.  et al. 2000	11119758				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Fertility and sterility. 2000 Dec;74(6):1237-40	A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome.		138040	18706	2	2000	The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS.	Case:114 consecutive patients of non-Hispanic white race diagnosed with polycystic ovarian syndrome;Control:92 healthy controls										
131980	N	post-traumatic stress disorder	PSYCH	PSY	Genetic Predisposition to Disease|Combat Disorders|Stress Disorders, Post-Traumatic	5	5q31	NR3C1	142637688	142795270		Bachmann, A. W.  et al. 2005	15511603				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		United States	CDC GDPinfo	2908	Hs.122926			Psychoneuroendocrinology. 2005 Apr;30(3):297-306	Glucocorticoid receptor polymorphisms and post-traumatic stress disorder.		138040	12966	2	2005	In conclusion, the N363S and BclI GR polymorphisms were not more frequent in PTSD patients than controls and reported population frequencies. Our PTSD group did not display GC hypersensitivity, as measured by the LD-DST and DVVA. In a subset of PTSD patients with the BclI GG genotype, CAPS scores and basal cortisol levels were negatively correlated.	Case:118 Vietnam war veterans with post-traumatic stress:disorder;Control:42 combat exposed Vietnam war veterans without post-traumatic stress disorder										
131981		insulin; lipids; glucose; cortisol; anthropometric parameters	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		van Rossum, E. F.  et al. 2004	15521959			promoter	Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Clinical endocrinology. 2004 Nov;61(5):573-81	Characterization of a promoter polymorphism in the glucocorticoid receptor gene and its relationship to three other polymorphisms.		138040	12967	2	2004	 The TthIIII polymorphism is not functional by itself. However, the ER22/23EK polymorphism is without exception linked to the TthIIII T polymorphism and this haplotype is associated with a relative resistance to glucocorticoids, and a healthy metabolic profile.	Cohort 209 randomly selected individuals of participants of the Rotterdam Study 										
131978		C-reactive protein; longevity; interleukin 6 levels	IMMUNE	IMM		5	5q31	NR3C1	142637688	142795270		Van Rossum, E. F.  et al. 2004	15276593				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The American journal of medicine. 2004 Aug;117(3):158-62	Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men		138040	12963	2	2004	 Carriers of the ER22/23EK polymorphism have better survival than noncarriers, as well as lower C-reactive protein levels.	Cohort 402 men (mean [+/- SD] age, 77.8 +/- 3.6 years) 										
131979		asthma	IMMUNE	IMM	Asthma	5	5q31	NR3C1	142637688	142795270		Hawkins, G. A.  et al. 2004	15497438				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		United States|Netherlands	CDC GDPinfo	2908	Hs.122926			DNA sequence. 2004 Jun;15(3):167-73	Identification of polymorphisms in the human glucocorticoid receptor gene (NR3C1) in a multi-racial asthma case and control screening panel		138040	12965	2	2004	This data shows the variability of NR3C1 polymorphism frequencies between racial groups and confirms that NR3C1 non-synonymous coding polymorphisms are generally rare in mild/moderate asthmatics and unaffected controls.	Case asthmatics from US Caucasian, African American, US Hispanic, and Dutch Caucasian populations;Control controls US Caucasian, African American, US Hispanic, and Dutch Caucasian populations										
131976	Y	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	5	5q31	NR3C1	142637688	142795270		Ye, J. W.  et al. 2003	14733805				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Sep;41(9):661-5	[Analysis on association of glucocorticoid receptor gene polymorphism with steroid-resistance in idiopathic nephrotic syndrome of children]		138040	12961	2	2003	 Twelve polymorphisms in the NR3C1 gene were detected with the technique of DHPLC, of which six polymorphisms were identified at the first time. Two types of newly found haplotypes were associated with steroid-resistant idiopathic nephrotic syndrome of children, which might be responsible for steroid-resistance in partial idiopathic nephrotic syndrome of children.	Case:39/67 steroid-resistance (n=39) and sterioid-sensitive (n=67) idiopathic nephrotic syndrome patients;Control:62/2 nromal neonates (n=62) and healthy volunteers (n=2)										
131977	Y	stress	PSYCH	PSY		5	5q31	NR3C1	142637688	142795270		Wust, S.  et al. 2004	14764763				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):565-73	Common polymorphisms in the glucocorticoid receptor gene are associated with adrenocortical responses to psychosocial stress.		138040	12962	2	2004	This is the first report documenting an impact of GR gene polymorphisms on cortisol (and perhaps ACTH) responses to psychosocial stress. These variants may contribute to the individual vulnerability for hypothalamus-pituitary-adrenal-related disorders.	Cohort individuals 										
131973	Y	cerebral infarct	CARDIOVASCULAR	CARD		5	5q31	NR3C1	142637688	142795270		Chi, L.  et al. 2003	12903052	G1666T			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	Chinese		CDC GDPinfo	2908	Hs.122926			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):353-6	[The association between glucocorticoid receptor gene G1666T polymorphism and cerebral infarction in Chinese]		138040	12957	2	2003	 The G allele may be a predisposing gene marker, GR gene intron 4 polymorphism contributes to the development of CI in females.	Case cerebral infarct cases;Control:controls										
131974		body mass; glucocorticoids	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		Van Rossum, E. F.  et al. 2003	14616881				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Clinical endocrinology. 2003 Nov;59(5):585-92	Identification of the BclI polymorphism in the glucocorticoid receptor gene: association withsensitivity to glucocorticoids in vivo and body mass index.		138040	12958	2	2003	 We characterized a BclI-RFLP (restriction fragment length polymorphism) of the GR gene as a C/G polymorphism in intron 2 of which the G-allele was associated with hypersensitivity to glucocorticoids. This resulted in a lower BMI in older individuals in general, while our study in elderly males suggests that the lower BMI is probably due to a greater loss of lean mass during the ageing process.	Cohort 191/1,963/370 a group of healthy elderly individuals whose overnight dexamethasone suppression tests was performed (n=191), anthropometric paramaters measured of the Rotterdam study (n=1,963), and elderly males (n=370) the Netherlands 										
131971	Y	cholesterol, HDL; cholesterol, total; insulin; cortisol	METABOLIC	MET	Coronary Disease|Diabetes Mellitus|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		van Rossum, E. F.  et al. 2002	12351458				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Diabetes. 2002 Oct;51(10):3128-34	A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels.		138040	12955	2	2002	Our data suggest that carriers of the 22/23EK allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than noncarriers, resulting in a better metabolic health profile.	Cohort 202 healthy elderly subjects of the Rotterdam Study 										
131972		obesity	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270		Tremblay, A.  et al. 2003	12843156				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3141-5	Long-term adiposity changes are related to a glucocorticoid receptor polymorphism in young females.		138040	12956	2	2003	In conclusion, this study suggests that a significant interaction effect exists between variation in the glucocorticoid receptor gene and body fat gain in female subjects experiencing the transition between adolescence and adulthood. Further research will, however, be necessary to characterize the lifestyle factors promoting fat accumulation, over time, among genetically susceptible individuals.	Cohort male and female preadolescents and adolescents who participated in phase 1 of the Quebec Family Study, and who were retested about 12 yr later 										
131967		normal variation	NORMALVARIATION	NV	Cardiovascular Diseases|Obesity|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Syed AA 2004	14715855	N363S			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	South Asians living in the United Kingdom	Asia|Great Britain	KGB	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):232-5	Low prevalence of the N363S polymorphism of the glucocorticoid receptor in South Asians living in the United Kingdom.		138040	2954	1	2004	Therefore, the N363S polymorphism is unlikely to be an important factor in obesity and/or dysmetabolic traits in people of South Asian origin living in the United Kingdom.	Cohort 142/153 males (n=142) and females (n=153) UK										
131968	Y	obesity	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Obesity	5	5q31	NR3C1	142637688	142795270		Weaver JU et al. 1992	1362060				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Journal of molecular endocrinology. 1992 Dec;9(3):295-300	An association between a Bc1I restriction fragment length polymorphism of the glucocorticoid receptor locus and hyperinsulinaemia in obese women.		138040	2955	1	1992												
131969	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270	n	Hakonarson H 2001	11739132	int4 -16 from ex5			nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018077	Icelandic	Iceland	KCB	2908	Hs.122926			American journal of respiratory and critical care	Allelic frequencies and patterns of single-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland.		138040	2956	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
131964		psychosocial stress.	PSYCH	PSY		5	5q31	NR3C1	142637688	142795270		Wust S 2004	14764763				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926	adrenocortical responses		The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):565-73	Common polymorphisms in the glucocorticoid receptor gene are associated with adrenocortical responses to psychosocial stress.		138040	2951	1	2004	This is the first report documenting an impact of GR gene polymorphisms on cortisol (and perhaps ACTH) responses to psychosocial stress. These variants may contribute to the individual vulnerability for hypothalamus-pituitary-adrenal-related disorders.	Cohort individuals										
131965		Body Composition and Muscle Strength	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		Van Rossum EF 2004	15292341	ER22/23EK			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926	greater body height and more muscle mass and strength in young-adult males. In females, we found a tendency toward smaller waist circumference and to a lesser extent smaller hip circumference		The Journal of clinical endocrinology and metabolism. 2004 Aug;89(8):4004-9	The ER22/23EK Polymorphism in the Glucocorticoid Receptor Gene Is Associated with a Beneficial Body Composition and Muscle Strength in Young Adults.		138040	2952	1	2004												
131961	Y	increased sensitivity to glucocorticoids	METABOLIC	MET		5	5q31	NR3C1	142637688	142795270		Huizenga NA et al. 1998	9435432				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 1998 Jan;83(1):144-51	A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo.		138040	2948	1	1998	We conclude that  in 6.0% of our study population, a polymorphism in codon 363 of the GR gene was found. Individuals carrying this polymorphism seemed healthy at clinical examination but had a higher sensitivity to exogenously administered glucocorticoids, with respect to both cortisol suppression and insulin response. Life-long exposure to the mutated allele may be accompanied by an increased BMI and a lowered BMD in the lumbar spine but does not affect blood pressure.											
131962	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Roussel R 2003	12864802	N363S			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Clinical endocrinology. 2003 Aug;59(2):237-41	The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus.		138040	2949	1	2003	 The 363S allele of the N363S variant of NR3C1 is associated with the susceptibility to overweight in subjects with type 2 diabetes mellitus.											
131958	Y	increased atherogenic profile	OTHER	OTH	Arteriosclerosis|Body Weight	5	5q31	NR3C1	142637688	142795270		Ukkola O et al. 2001	11427224				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Atherosclerosis. 2001 Jul;157(1):221-4	Glucocorticoid receptor Bcl I variant is associated with an increased atherogenic profile in response to long-term overfeeding.		138040	2945	1	2001	In conclusion, 2.3/2.3 kb subjects of the GRL Bcl I polymorphism experience greater increases in body weight, blood pressure and cholesterol levels as well as visceral fat than 4.5/2.3 kb subjects in response to overfeeding. These data suggest that overfeeding induces an atherogenic profile in subjects who are homozygotes for the 2.3 kb allele.											
131959	Y	BclI restriction fragment length polymorphism at the glucocorticoid receptor gene locus	OTHER	OTH		5	5q31	NR3C1	142637688	142795270		Buemann B et al. 1997	9192392				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Obesity research. 1997 May;5(3):186-92	Abdominal visceral fat is associated with a BclI restriction fragment length polymorphism at the glucocorticoid receptor gene locus.		138040	2946	1	1997												
131955	Y	low insulin and cholesterol levels	METABOLIC	MET	Coronary Disease|Diabetes Mellitus|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		van Rossum EF et al. 2002	12351458				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Diabetes. 2002 Oct;51(10):3128-34	A polymorphism in the glucocorticoid receptor gene which decreases sensitivity to glucocorticoids in vivo is associated with low insulin and cholesterol levels.		138040	2942	1	2002	Our data suggest that carriers of the 22/23EK allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than noncarriers, resulting in a better metabolic health profile.	Cohort 202 healthy elderly subjects of the Rotterdam Study										
131956	N	glucocorticoid resistance	METABOLIC	MET	Chronic Disease	5	5q31	NR3C1	142637688	142795270	n	Koper JW et al. 1997	9150737				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		Netherlands	AC	2908	Hs.122926			Human genetics. 1997 May;99(5):663-8	Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance.		138040	2943	1	1997												
131957	Y	Nelson's syndrome	OTHER	OTH	Nelson Syndrome	5	5q31	NR3C1	142637688	142795270		Karl M et al. 1996	8550738				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 1996 Jan;81(1):124-9	Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene.		138040	2944	1	1996												
131952	Y	Adiposity and Abdominal Obesity	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270	p=0.017????	Ukkola O 2001	11571596	Bcl I			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	Quebec	Quebec	TJB	2908	Hs.122926			International journal of obesity and related metabolic disorders. 2001 Sep;25(9):1332-9	Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Qu????bec Family Study.		138040	2939	1	2001	 There is an association between the GRL BclI polymorphism and increased AVF levels independent of the level of total body fat. The alpha 2-ADR DraI variant is associated with a lower cross-sectional area of abdominal total fat. Numerous interactions between GRL and ADR markers on overall adiposity and total abdominal fat as well as between GRL, LPL and ADR genes on overall adiposity, abdominal total and visceral fat suggest that the genetic architecture of body fat content and adipose tissue distribution is complex although some genes, like GRL, may have ubiquitous effects.	Cohort 742 individuals from the phase 2 of the Quebec Family Study cohort										
131953	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270	3e-006	Lin RC 2003	12623935	S363 allele			Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	patients of Anglo-Caltic descent residing in Sydney		KEW	2908	Hs.122926			Hypertension. 2003 Mar;41(3):404-7	Association of coronary artery disease with glucocorticoid receptor N363S variant.		138040	2940	1	2003	The data suggest a role for glucocorticoid receptor variation in the underlying cause of CAD.	Control:302:controls;Case:437 patients with coronary artery disease:Sydney, Australia										
131949		cirrhosis, biliary primary	OTHER	OTH	Liver Cirrhosis, Biliary	3	3q12-q13.3	NR1I2	120982020	121020022		Kimura, Y.  et al. 2004	15690482				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2			CDC GDPinfo	8856	Hs.7303			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis		603065	25391	2	2004	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
131950		cirrhosis, biliary primary	OTHER	OTH	Liver Cirrhosis, Biliary	3	3q12-q13.3	NR1I2	120982020	121020022		Kimura, Y.  et al. 2005	15690482				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2			CDC GDPinfo	8856	Hs.7303			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis.		603065	26490	2	2005	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
131951	N	IgE	IMMUNE	IMM	Hypersensitivity, Immediate	12	12q22	NR2C1	93939801	93991487	n	Heinzmann 2000	11069563	G1032A			nuclear receptor subfamily 2, group C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001017535			KGB	7181	Hs.108301			Clinical and experimental allergy. 2000 Nov;30(11):1555-61				6277	1		 We conclude from our data that genes in the chromosomal region 12q13-24 and in particular SCF are unlikely to exert a major effect on the induction of the atopic phenotype in our Caucasian population. However, we did not focus on the asthmatic and thereby inflammatory aspect of atopy which might explain these results in contradiction to previous studies.											
131946		insulin; obesity; birth weight	METABOLIC	MET	Obesity|Birth Weight	1	1p36.1	NR0B2	27110565	27113047		Hung, C. C.  et al. 2003	12716767				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1	Caucasian		CDC GDPinfo	8431	Hs.427055			Diabetes. 2003 May;52(5):1288-91	Contribution of variants in the small heterodimer partner gene to birthweight, adiposity, and insulin levels: mutational analysis and association studiesin multiple populations.		604630	18704	2	2003	In summary, mutations in SHP are not a common cause of severe early-onset obesity in Caucasians, although a contributory role for rare mutations in occasional patients cannot be excluded. Common variants in SHP do show some evidence for association with indexes od adiposity, birth weight, and insulin levels, particularly in children, however, these effects are likely to be modest, and large-scale population genetic studies are needed to test these observations further.	Cohort 1,079 children from a population-based cohort, the Avon Longitudinal Study of Parents and Children Cohort 329 unrelated subjects with severe early-onset obesity from the Genetics Of Obesity study (n=329) Cohort 600 UK Caucasian adults from the Ely Study Ely, UK 										
131947		obesity	METABOLIC	MET	Obesity	1	1p36.1	NR0B2	27110565	27113047		Echwald, S. M.  et al. 2004	15459958				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1	Danish	Netherlands	CDC GDPinfo	8431	Hs.427055			Human mutation. 2004 Nov;24(5):381-7	Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.		604630	18705	2	2004	A functional 93D variant of SHP was identified in 1 out of 750 obese and in none of 795 nonobese control subjects. Further large-scale population studies are necessary to assess the clinical impact of this rare variant on obesity risk among European subjects.	Case:750 Danish men with early-onset obesity;Control:795 nonobese control subjects										
131948	Y	cancer tissues	CANCER	CAN	Neoplasms|Breast Neoplasms|Esophageal Neoplasms|Colorectal Neoplasms|Colonic Neoplasms|Stomach Neoplasms|	19	19q13.3-19q13.3	NER	55571303	55578050		Saito H et al. 1997	9053861			splice variant	nuclear receptor subfamily 1, group H, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001017535			KGB	7376	Hs.432976			Oncogene. 1997 Feb;14(5):617-21	Frequent association of alternative splicing of NER a nuclear hormone receptor gene in cancer tissues.			6365	1	1997	 This observation may imply that the aberrant NER product has some relation to the development and/or progression of cancers in a variety of human tissues.											
131943		birthweight adiposity	METABOLIC	MET	Obesity|Birth Weight	1	1p36.1	NR0B2	27110565	27113047		Hung CC et al. 2003	12716767				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1			KGB	8431	Hs.427055			Diabetes. 2003 May;52(5):1288-91	Contribution of variants in the small heterodimer partner gene to birthweight adiposity and insulin levels: mutational analysis and association studies in multiple populations.		604630	8136	1	2003	In summary, mutations in SHP are not a common cause of severe early-onset obesity in Caucasians, although a contributory role for rare mutations in occasional patients cannot be excluded. Common variants in SHP do show some evidence for association with indexes od adiposity, birth weight, and insulin levels, particularly in children, however, these effects are likely to be modest, and large-scale population genetic studies are needed to test these observations further.	Cohort 1,079 children from a population-based cohort, the Avon Longitudinal Study of Parents and Children Cohort 329 unrelated subjects with severe early-onset obesity from the Genetics Of Obesity study (n=329) Cohort 600 UK Caucasian adults from the Ely										
131944	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Obesity|Genetic Predisposition to Disease|Body Weight|Birth Weight	1	1p36.1	NR0B2	27110565	27113047		Nishigori, H.  et al. 2001	11136233				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1	Japanese	Japan	CDC GDPinfo	8431	Hs.427055			Proceedings of the National Academy of Sciences of the United States of America. 2001 Jan;98(2):575-80	Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.		604630	18702	2	2001	These results suggest that genetic variation in the SHP gene contributes to increased body weight and reveal a pathway leading to this common metabolic disorder in Japanese.	Cohort 173/101 unrelated Japanese subjects with early-onset diabetes for mutations (n=173) and unrelated nondiabetic subjects with early-onset obesity (n=101) 										
131945		diabetes, type 2; obesity; birth weight	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Birth Weight	1	1p36.1	NR0B2	27110565	27113047		Mitchell, S. M.  et al. 2003	12716764				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1	Caucasian		CDC GDPinfo	8431	Hs.427055			Diabetes. 2003 May;52(5):1276-9	Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects.		604630	18703	2	2003	Our study suggests that genetic variation in SHP is unlikely to be common in the predisposition to diabetes, obesity, or increased birth weight in U.K. Caucasians.	Cohort 1,927 UK subjects ;Case:348 type 2 diabetic subjects;Control:925 young nondiabetic adults										
131940		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		De Jong, M. M.  et al. 2002	12433710				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		125860	28448	2	2002	Review article											
131941		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16q22.1	NQO1	68300804	68318034		Landi, S.  et al. 2005	16006997				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		125860	28551	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
131942	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Obesity|Genetic Predisposition to Disease|Body Weight|Birth Weight	1	1p36.1	NR0B2	27110565	27113047		Nishigori H et al. 2001	11136233				Nuclear receptor subfamily 0, group B, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021969.1	Japanese	Japan	KGB	8431	Hs.427055			Proceedings of the National Academy of Sciences of the United States of America. 2001 Jan;98(2):575-80	Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.		604630	8135	1	2001	These results suggest that genetic variation in the SHP gene contributes to increased body weight and reveal a pathway leading to this common metabolic disorder in Japanese.	Cohort 173/101 unrelated Japanese subjects with early-onset diabetes for mutations (n=173) and unrelated nondiabetic subjects with early-onset obesity (n=101)										
131937		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Sachse, C.  et al. 2002	12419832				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		England	CDC GDPinfo	1728	Hs.406515			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		125860	28388	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
131938		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	16	16q22.1	NQO1	68300804	68318034		Krajinovic, M.  et al. 2002	11895912				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		125860	28389	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
131939		breast cancer	CANCER	CAN	Breast Neoplasms	16	16q22.1	NQO1	68300804	68318034		Goode, E. L.  et al. 2002	12036913				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		125860	28390	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
131934	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16q22.1	NQO1	68300804	68318034		Sanyal, S.  et al. 2003	14688016				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		125860	27980	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
131935		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Wang, X.  et al. 2001	11520401				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		China	CDC GDPinfo	1728	Hs.406515			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		125860	28098	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
131936		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Kiyohara, C.  et al. 2002	12234692				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		125860	28387	2	2002	Review article		smoking (tobacco)									
131932	Y	cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Leng, S. G.  et al. 2004	15061915				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		125860	27978	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
131933		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Skuladottir, H.  et al. 2005	15829318				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Denmark|Norway	CDC GDPinfo	1728	Hs.406515			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		125860	27979	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
131929		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Tuominen, R.  et al. 2002	11967624				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		125860	27814	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
131930		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	16	16q22.1	NQO1	68300804	68318034		Ishikawa, K.  et al. 2005	15838728				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		125860	27815	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
131931		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Leng, S. G.  et al. 2004	15355699				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):245-9	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		125860	27977	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
131926		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Soucek, P.  et al. 2002	12397416				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		125860	27811	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
131927	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Liang, G. Y.  et al. 2004	15640066				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese	China	CDC GDPinfo	1728	Hs.406515			Yi chuan. 2004 Sep;26(5):584-8	[Studies of the genes related to lung cancer susceptibility in nanjing han population, china.]		125860	27812	2	2004	This study suggested that CYP1A1, GSTT1 and gene NQO1 polymorphisms might be associated with the susceptibility to lung cancer in Nanjing Han population. Analysis of gene-gene interactions was helpful to identification of susceptible individuals and screening high-risk population to lung cancer.	Case:152 Nanjing Han original lung cancer cases:China;Control:152 hospital controls										
131928		Parkinson's disease	NEUROLOGICAL	NEUR		16	16q22.1	NQO1	68300804	68318034		Nishio, K.  et al. 2004	15279067				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		125860	27813	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
131923		DNA adducts	OTHER	OTH	Breast Neoplasms	16	16q22.1	NQO1	68300804	68318034		Brockstedt, U.  et al. 2002	11943609				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		125860	27583	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 										
131924		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Kiffmeyer, W. R.  et al. 2004	14716779				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	1728	Hs.406515			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		125860	27584	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
131925		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	16	16q22.1	NQO1	68300804	68318034			16343742				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		125860	27585	2	2005			smoking (tobacco)									
131920		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Leng, S.  et al. 2004	15466980				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1631-9	Effects of Genetic Polymorphisms of Metabolic Enzymes on Cytokinesis-Block Micronucleus in Peripheral Blood Lymphocyte among Coke-Oven Workers		125860	27162	2	2004	These results indicate that the mEH, GSTP1, and GSTM1 polymorphisms may play a role in sensitivity or genetic susceptibility to the genotoxic effects of PAH exposure in the coke-oven workers.	Case:141 coke-oven workers;Control:66 non-coke-oven worker controls	polycyclic aromatic hydrocarbons									
131921		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	16	16q22.1	NQO1	68300804	68318034		Bowen, D. T.  et al. 2002	12468438				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		125860	27581	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
131922		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Turner, F.  et al. 2004	15352038				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Great Britain	CDC GDPinfo	1728	Hs.406515			International journal of cancer. Journal international du cancer. 2004 Nov;112(2):259-64	Vegetable, fruit and meat consumption and potential risk modifying genes in relation to colorectal cancer.		125860	27582	2	2004	Because of the multiple hypotheses tested in our study, these findings require independent confirmation.	Control population controls, matched for age, sex and general practitioner;Case:500 incident colorectal cancer cases:UK	diet meat									
131917		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	16	16q22.1	NQO1	68300804	68318034		Dufour, C.  et al. 2005	16079101				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Caucasian		CDC GDPinfo	1728	Hs.406515			Haematologica. 2005 Aug;90(8):1027-31	Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients.		125860	27159	2	2005	 The low/null activity polymorphisms of the detoxifying enzymes CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 are not associated with the risk of developing aplastic anemia or to the response to immunosuppressive therapy in Caucasian patients.											
131918	Y	benzene toxicity	METABOLIC	MET	Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Wan, J.  et al. 2002	12460800				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Environmental health perspectives. 2002 Dec;110(12):1213-8	Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.		125860	27160	2	2002	Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.	Control:152 workers occupationally exposed to benzene;Case:156 benezene-poisoning patients South China	alcohol smoking (tobacco)									
131919		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16q22.1	NQO1	68300804	68318034		Moore, L. E.  et al. 2004	15219943				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Argentina	CDC GDPinfo	1728	Hs.406515			Cancer letters. 2004 Aug;211(2):199-207	Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina.		125860	27161	2	2004	The MTHFR 677 CT and TT polymorphisms appeared protective against bladder cancer.	Case:106 bladder cancer cases;Control:109:controls	smoking (tobacco)									
131914	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Menzel, H. J.  et al. 2004	15138483				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		125860	27156	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria										
131915		cytogenetic studies	OTHER	OTH		16	16q22.1	NQO1	68300804	68318034		Cheng, J.  et al. 2005	15938845				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		125860	27157	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
131916		manganism, susceptibility to occupational chronic	OTHER	OTH	Central Nervous System Diseases|Manganese Poisoning|Occupational Diseases	16	16q22.1	NQO1	68300804	68318034		Zheng, Y. X.  et al. 2002	12171760				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Biomarkers. 2002 Jul-Aug;7(4):337-46	Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.		125860	27158	2	2002	The results suggest that CYP2D6L gene polymorphism might influence susceptibility to manganese-induced neurotoxicity. However, because of limited sample size, our results should be validated in large-scale studies.	Case:49 patients with chronic manganism;Control:50 unrelated healthy controls who were welders and ferromanganese smelters and occupationally exposed to manganese dust and fume in the same workshops from three metallurgical industries										
131911		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	16	16q22.1	NQO1	68300804	68318034		Chan, E. C.  et al. 2005	16157195				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese		CDC GDPinfo	1728	Hs.406515			Cancer genetics and cytogenetics. 2005 Oct;162(1):20-Oct	Polymorphisms of the GSTM1, GSTP1, MPO, XRCC1, and NQO1 genes in Chinese patients with non-small cell lung cancers: relationship with aberrant promotermethylation of the CDKN2A and RARB genes.		125860	26487	2	2005												
131912		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid	16	16q22.1	NQO1	68300804	68318034		Naoe, T.  et al. 2002	11840286				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Leukemia. 2002 Feb;16(2):203-8	Prognostic significance of the null genotype of glutathione S-transferase-T1 in patients with acute myeloid leukemia: increased early death afterchemotherapy.		125860	26488	2	2002	The null genotype of GSTT1 might be associated with increased toxicity after chemotherapy.	Cohort 193 patients with de novo acute myeloid leukemia (AML) other than M3 	chemotherapy									
131913		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	16	16q22.1	NQO1	68300804	68318034		Sorensen, M.  et al. 2005	15808404				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer letters. 2005 Apr;221(2):185-90	Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.		125860	26489	2	2005	The NAT2 fast acetylator genotype seemed to be protective against lung cancer in light smokers (20 cigarettes/day).	Case:265 lung cancer cases identified from a population-based case-cohort study of 54,220;Control:272 individuals from a sub-cohort used for comparison	smoking (tobacco)									
131908	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Sunaga, N.  et al. 2002	12163326				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):730-8	Contribution of the NQO1 and GSTT1 polymorphisms to lung adenocarcinoma susceptibility.		125860	26484	2	2002	The result indicates that the NQO1-Pro/Pro and GSTT1-null genotypes are risk factors for lung adenocarcinoma development, and that the genetic factors for susceptibility to adenocarcinoma are different from those to squamous cell carcinoma. The enhanced risk of the NQO1-Pro/Pro genotype combined with the GSTT1-null genotype was more evident in smokers than in nonsmokers. Therefore, carcinogens in tobacco smoke, which are activated by NQO1 and detoxified by GSTT1, could have a role in lung adenocarcinoma development.	Control:152 control subjects;Case:198 patients with lung cancer	smoking (tobacco)									
131909	Y	leukemia; leukemia, myelodysplastic (TRLIMDS)	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	16	16q22.1	NQO1	68300804	68318034		Naoe T  et al. 2000	11051261				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Japanese	Japan	CDC GDPinfo	1728	Hs.406515			Clinical cancer research. 2000 Oct;6(10):4091-5	Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia.		125860	26485	2	2000	the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS.	Control:150/411 150 controls (unspecified) and 411 patients with de novo acute myeloid leukemia (AML);Case:58 patients with TRL/MDS										
131910		cutaneous reactions to sulfonamides	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Drug Hypersensitivity	16	16q22.1	NQO1	68300804	68318034		Wolkenstein, P.  et al. 2005	16297214				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			The Journal of investigative dermatology. 2005 Nov;125(5):1080-2	Association analysis of drug metabolizing enzyme gene polymorphisms in AIDS patients with cutaneous reactions to sulfonamides.		125860	26486	2	2005												
131905		leukemia	CANCER	CAN	Leukemia, Pre-b-cell|Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Krajinovic, M.  et al. 2002	11774269				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			International journal of cancer. Journal international du cancer. 2002 Jan;97(2):230-6	Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia.		125860	25388	2	2002	It is therefore plausible that exposure to xenobiotics metabolized by these enzymes play a role in the etiology of childhood ALL.	Case:174 Aculte lymphoblastic leukemia patients of French Canadian origin;Control:337 controls of French-Canadian origin										
131906		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		van der Logt, E. M.  et al. 2005	16039674				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Mutation research. 2006 Jan;593(2-Jan):39-49	Role of epoxide hydrolase, NAD(P)H:quinoneoxidoreductase, cytochrome P450 2E1 or alcohol dehydrogenase genotypes in susceptibility to colorectal cancer.		125860	26482	2	2005												
131907		psoriasis	IMMUNE	IMM	Psoriasis	16	16q22.1	NQO1	68300804	68318034		Richter-Hintz, D.  et al. 2003	12713578				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			The Journal of investigative dermatology. 2003 May;120(5):765-70	Allelic variants of drug metabolizing enzymes as risk factors in psoriasis.		125860	26483	2	2003	This is the first large-scale study on these enzymes and the results obtained support the concept that different activities of metabolizing enzymes can contribute to disease etiology and progression.	Control:235:controls;Case:327 Caucasian psoriasis patients										
131902		leukemia, acute myeloid	CANCER	CAN		16	16q22.1	NQO1	68300804	68318034			16321221				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua yi xue za zhi. 2005 Aug;85(33):2312-6	[Relationship between GSTT1, GSTM1 and NQO1 gene polymorphism and acute myeloid leukemia and recurrent chromosome translocations]		125860	25385	2	2005	 Determination of the NQO1(C609T) genotypes may be used as a stratification marker to predict high-risk individuals for AML, especially for AML with t (8; 21) (q22; q22)/AML-ETO fusion gene and t (15; 17) (q22; q11)/PML-RARalpha fusion gene.											
131903		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034			16385446				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			American journal of human genetics. 2006 Jan;78(1):15-27	A testing framework for identifying susceptibility genes in the presence of epistasis		125860	25386	2	2006												
131904		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Cocarcinogenesis	16	16q22.1	NQO1	68300804	68318034		Hung, R. J.  et al. 2004	14729580				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Carcinogenesis. 2004 Jun;25(6):973-8	Genetic polymorphisms of MPO, COMT, MnSOD, NQO1, interactions with environmental exposures and bladder cancer risk		125860	25387	2	2004	These findings suggest that individual susceptibility of bladder cancer may be modulated by MPO and MnSOD polymorphisms, and that the combination of genetic factors involved in oxidative stress response with environmental carcinogens may play an important role in bladder carcinogenesis.	Case:201 incident bladder cancer cases Brescia, Northern Italy:1997-2000;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons									
131899		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	16	16q22.1	NQO1	68300804	68318034		Yin, L.  et al. 2001	11551408				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		China	CDC GDPinfo	1728	Hs.406515			Lung cancer (Amsterdam, Netherlands). 2001 Aug-Sep;33(3-Feb):133-41	Genetic polymorphisms of NAD(P)H quinone oxidoreductase, CYP1A1 and microsomal epoxide hydrolase and lung cancer risk in Nanjing, China.		125860	25382	2	2001	Our results suggest that HYL1*2 polymorphism might be a risk factor for smoking-associated lung cancer in China.	Case:84 lung cancer patients:Nanjing, China;Control:84 controls matched by age, gender, occupation and smoking status	smoking (tobacco)									
131900		breast cancer	CANCER	CAN	Breast Neoplasms	16	16q22.1	NQO1	68300804	68318034		Sarmanova, J.  et al. 2004	15280903				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			European journal of human genetics. 2004 Oct;12(10):848-54	Breast cancer: role of polymorphisms inbiotransformation enzymes		125860	25383	2	2004	In conclusion, the results suggest that genetic polymorphisms in biotransformation enzymes may play a significant role in the development of breast cancer.	Case:238 patients with breast cancer;Control:313 healthy individuals										
131901	Y	benzene toxicity	METABOLIC	MET		16	16q22.1	NQO1	68300804	68318034		Chen, Y.  et al. 2005	15748501				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Feb;23(1):5-Jan	[Genetic polymorphisms of NQO1, GSTT1, STM1 and susceptibility to chronic benzene poisoning.]		125860	25384	2	2005	 The interaction of multi-genes may be an important role to BP. The genetic polymorphisms of 3 genes (NQO1, GSTT1 and GSTM1) led to declining of detoxifying ability in benzene metabolism, so the individual with NQO1 C609T T/T genotype, GSTT1 null genotype and GSTM1 null genotype is most susceptive to benzene. The results were consistent with that of the theoretic presumption. It could be suggested as a biomarker to assess the risk of benzene poisoning for individuals.	Case:100 patients with benzene poisoning;Control:90 workers exposed to benzene who were engaged in the same working time and job title as patients with benzene poisoning										
131896		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	16	16q22.1	NQO1	68300804	68318034		Olson, S. H.  et al. 2004	15196853				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Gynecologic oncology. 2004 Jun;93(3):615-20	Genetic variants in SOD2, MPO, and NQO1, and risk of ovarian cancer.		125860	23174	2	2004	 While these results need to be confirmed in other studies, they point to a possible role for genes involved in oxidative stress in the development of ovarian cancer.	Case:125 hospital-based ovarian cancer cases;Control:193 hospital-based controls										
131897	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Raimondi, S.  et al. 2004	15370874				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Biomarkers. 2004 Mar-Apr;9(2):180-9	Association of metabolic gene polymorphisms with alcohol consumption in controls.		125860	25380	2	2004	Therefore, no significant association between CYP2E1 RsaI, CYP2E1 DraI, ADH1C, NQO1 polymorphisms and alcohol consumption was observed in healthy controls.	Cohort 2,224 subjects with information on both alcohol consumption and at least one of the studied polymorphisms 										
131898	N	leukemia, lymphoid; leukemia, myeloid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Myeloid|Neoplasms, Second Primary|Acute Disease	16	16q22.1	NQO1	68300804	68318034		Blanco, J. G.  et al. 2002	12439220				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Pharmacogenetics. 2002 Nov;12(8):605-11	Genetic polymorphisms in CYP3A5, CYP3A4 and NQO1 in children who developed therapy-related myeloid malignancies		125860	25381	2	2002	Our data do not support an association between common, or polymorphisms and the risk of t-ML in children treated for ALL.	Control:224 children with ALL who did not develop myelodysplastic syndrome;Case:53 hildren with ALL who did develop the complication										
131893	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Lin, P.  et al. 2003	12711112				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Taiwan	CDC GDPinfo	1728	Hs.406515			Lung cancer (Amsterdam, Netherlands). 2003 May;40(2):123-9	Analysis of NQO1, GSTP1, and MnSOD genetic polymorphisms on lung cancer risk in Taiwan.		125860	23171	2	2003	These results suggest that NQO1 plays a role in the development of cigarette smoking-associated lung adenocarcinoma. In addition, GSTP1 polymorphism was associated with the risk of squamous cell lung carcinoma in Taiwan.	Case:198 lung cancer casese:Taiwan;Control:332:controls	smoking (tobacco)									
131894	Y	benzene toxicity	METABOLIC	MET		16	16q22.1	NQO1	68300804	68318034		Wan, J.  et al. 2002	14694720				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2002 Oct;20(5):340-3	[Relation of genetic polymorphism of NQO1 and GSTT1 with risks of chronic benzene poisoning]		125860	23172	2	2002	 The subjects carrying NQO1c. 609 T/T genotype and together with the habit of smoking or drinking may be more susceptible to BP.	Case:152 chronic benzene poisoning patients;Control:152 workers occupationally exposed to benzene without poisoning manifestations	alcohol smoking (tobacco)									
131895		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Kiyohara, C.  et al. 2005	16170238				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Genetics in medicine. 2005 Sep;7(7):463-78	NQO1, MPO, and the risk of lung cancer: a HuGEreview.		125860	23173	2	2005	As lung cancer is a multifactorial disease, an improved understanding of such interactions may help identify individuals at risk for developing lung cancer. Such a study should include larger sample size and other polymorphisms in the metabolism of tobacco-derived carcinogens and address interactions with smoking status. The effects of polymorphisms are best represented by their haplotypes. In future studies on lung cancer, the development of haplotype-based approaches will facilitate the evaluation of haplotypic effects, either for selected polymorphisms physically close to each other or for multiple genes within the same drug-metabolism pathway.		smoking (tobacco)									
131890		acenocoumarol response	PHARMACOGENOMIC	PHARM		16	16q22.1	NQO1	68300804	68318034		Morin, S.  et al. 2004	15116053				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Clinical pharmacology and therapeutics. 2004 May;75(5):403-14	Pharmacogenetics of acenocoumarol pharmacodynamics.		125860	23168	2	2004	 Overall, CYP2C9-related genetic variability accounts for 14% of the interindividual variability in acenocoumarol pharmacodynamic response. The information found by haplotype analysis is mainly related to the CYP2C9*3 SNP.	Cohort 236 healthy volunteers 	acenocoumarol									
131891		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	16	16q22.1	NQO1	68300804	68318034		Harada, S.  et al. 2001	11688992				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Biochemical and biophysical research communications. 2001 Nov;288(4):887-92	An Association between Idiopathic Parkinson's Disease and Polymorphisms of Phase II Detoxification Enzymes: Glutathione S-TransferaseM1 and Quinone Oxidoreductase 1 and 2		125860	23169	2	2001	Our data suggested that the deletion of 29-bp nucleotides in the promoter region of the NQO2 gene associates with the development of PD	Control:100 unrelated healthy volunteers;Case:111 unrelated outpatients with idiopathic PD										
131892		alcohol abuse	CHEMDEPENDENCY	CHEM	Hallucinations|Alcohol Withdrawal Delirium|Chromosome Deletion|Disease Susceptibility	16	16q22.1	NQO1	68300804	68318034		Okubo, T.  et al. 2003	12960511				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Japan	CDC GDPinfo	1728	Hs.406515			Alcoholism, clinical and experimental research. 2003 Aug;27(8 Suppl):68S-71S	Association analyses between polymorphisms of the phase II detoxification enzymes (GSTM1, NQO1, NQO2) and alcohol withdrawal symptoms.		125860	23170	2	2003	 Present data suggest that an insertion/deletion polymorphism in the promoter region of the NQO2 gene plays an important role in the pathogenesis of alcoholism and alcohol withdrawal symptoms.	Control:134 age-matched Japanese male controls (nonhabitual:drinkers);Case:247 Japanese male alcoholic patients with alcohol withdrawal symptoms or without the symptoms										
131887	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	16	16q22.1	NQO1	68300804	68318034		Okada, S.  et al. 2005	15694256				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Neuroscience letters. 2005 Mar;375(3):178-80	No associations between Parkinson's disease and polymorphisms of the quinone oxidoreductase (NQO1, NQO2) genes.		125860	12952	2	2005	No associations were detected for either gene variant or for any allele combinations.	Case:190 idiopathic Parkinson's disease patients;Control:305 unrelated controls matched on age and sex								N		
131888	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Zhang, J.  et al. 2003	14669229				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):544-6	[The NAD(P)H: quinone oxidoreductase 1 C609Tpolymorphism and susceptibility to esophageal cancer]		125860	18698	2	2003	 Determination of the NQO1 C609T genotype may be used as a stratification marker to predicate high-risk individuals for ESCC.	Control:141 unrelated healthy controls;Case:193 patients with esophageal squamous cell carcinoma northern China										
131889		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	16	16q22.1	NQO1	68300804	68318034		Ma, Q. L.  et al. 2003	14720419				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese		CDC GDPinfo	1728	Hs.406515			Zhonghua yi xue za zhi. 2003 Dec;83(24):2124-7	[Association between NAD(P)H: quinoneoxidoreductase and apolipoprotein E gene polymorphisms in Alzheimer's disease]		125860	23167	2	2003	 NQO1 C609T may be an independent genetic risk factor for SAD in Chinese.	Control:108 normal controls;Case:92 Han nationality sporadic Alzheimer's disease:patients										
131884	Y	benzene toxicity	METABOLIC	MET	Occupational Diseases	16	16q22.1	NQO1	68300804	68318034		Chen, Y.  et al. 2004	15727169				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Wei sheng yan jiu. 2004 Nov;33(6):657-9	[Study on genetic polymorphism of NQO1 and susceptibility to benzene poisoning]		125860	12946	2	2004	 The subjects with NQO1 C609T mutation genotype (T/T) were more susceptive to benzene and NQO1 is as a biomarker to assessment the risk of benzene poisoning for individual.	Case:100 patients with benzene poisoning;Control:90 workers exposed to benzene who were engaged in the same working time and job title as patients with benzene poisoning										
131885	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Saldivar, S. J.  et al. 2005	15781212				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Mutation research. 2005 Apr;582(2-Jan):71-8	An association between a NQO1 genetic polymorphism and risk of lung cancer.		125860	12947	2	2005	These results suggest that the NQO1 variant genotype may modulate lung cancer risk, especially in younger individuals (age<62), women, and never smokers.	Case:826 lung cancer patients;Control:826 healthy control subjects matched for age, sex, ethnicity, and smoking status	smoking (tobacco)									
131886	Y	Alzheimer's disease; cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	16	16q22.1	NQO1	68300804	68318034		Wan, H. Y.  et al. 2005	16038261	C609T			NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese		CDC GDPinfo	1728	Hs.406515			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2005 Jun;27(3):285-8	[NQ01 gene polymorphism C609T associated with an increased risk for cognitive dysfunction and sporadic Alzheimer's disease in Chinese]		125860	12948	2	2005	 The C609T polymorphism of NQ01 gene may be a genetic risk factor for cognitive dysfunction and sporadic AD in Chinese population.											
131881	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Wu, D. H.   2002	12480594				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Di yi jun yi da xue xue bao. 2002 Dec;22(12):1126-7	[Quinone oxidoreductase gene polymorphism and genetic susceptibility to nasopharyngeal carcinoma]		125860	12942	2	2002	 The cDNA 609 T allele of NQO1 gene is very likely to be associated with the genetic susceptibility to nasopharyngeal carcinoma.	Case:120 patients with nasopharyngeal carcinoma;Control:120 healthy subjects matched for age, gender and origin										
131882	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Park, S. J.  et al. 2003	12694753				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Texas	CDC GDPinfo	1728	Hs.406515			Mutation research. 2003 Apr;536(2-Jan):131-7	An association between NQO1 genetic polymorphism and risk of bladder cancer.		125860	12943	2	2003	These results suggest that the NQO1 genetic polymorphism modulates bladder cancer risk, especially in men and ever smokers.	Control:261 control subjects matched for age, sex, and:ethnicity;Case:265 bladder cancer patients	smoking (tobacco)									
131883	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	16	16q22.1	NQO1	68300804	68318034		Jiang, X.  et al. 2004	15079792				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDPinfo	1728	Hs.406515			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):120-3	[A study on the relationship between polymorphism of human NAD(P)H: quinone oxidoreductase andParkinson's disease in Chinese]		125860	12945	2	2004	 This study revealed significant differences in genotypic frequencies between PD group and control group. The findings supported the hypothesis about an association between NQO1 gene and PD, suggesting that the age at onset of PD might be related to the putative association, and NQO1 cDNA C609T site be a risk factor for PD.	Control:controls;Case Parkinson's disease patients										
131877	Y	adenocarcinoma of the upper gastrointestinal tract.	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Gastroesophageal Reflux	16	16q22.1	NQO1	68300804	68318034		Sarbia M 2003	14506737				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			International journal of cancer. Journal international du cancer. 2003 Nov;107(3):381-6	Association between NAD(P)H: quinone oxidoreductase 1 (NQ01) inactivating C609T polymorphism and adenocarcinoma of the upper gastrointestinal tract.		125860	2067	1	2003												
131879	Y	esophageal cancer and gastric cardiac carcinoma	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Zhang JH 2003	12854127				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		China	KGB	1728	Hs.406515			World journal of gastroenterology. 2003 Jul;9(7):1390-3	NQO1 C609T polymorphism associated with esophageal cancer and gastric cardiac carcinoma in North China.		125860	2069	1	2003	 Determination of the NQO1 C609T genotype may be used as a stratification marker to predicate the individuals at high risk for developing ESCC and GCA in North China.											
131880		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Kristiansen OP 2004	10447260				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Danish	Denmark	Y Wang	1728	Hs.406515			Human mutation. 1999 ;14(1):67-70	No linkage of P187S polymorphism in NAD(P)H: quinone oxidoreductase (NQO1/DIA4) and type 1 diabetes in the Danish population. DIEGG and DSGD. Danish IDDM Epidemiology and Genetics Group and The Danish Study Group of Diabetes in Childhood.		125860	2070	1	2004												
131873	Y	leukemia	OTHER	OTH	Leukemia|Leukemia, Myeloid|Translocation, Genetic|Acute Disease|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Smith MT et al. 2002	12393620				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			Blood. 2002 Dec;100(13):4590-3	Low NAD(P)H:quinone oxidoreductase activity is associated with increased risk of leukemia with MLL translocations in infants and children.		125860	2063	1	2002												
131874	N	pediatric leukemias	CANCER	CAN	Leukemia|Acute Disease	16	16q22.1	NQO1	68300804	68318034	n	Wiemels JL et al. 1999	10463613				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			Cancer research. 1999 Aug;59(16):4095-9	A lack of a functional NAD(P)H:quinone oxidoreductase allele is selectively associated with pediatric leukemias that have MLL fusions. United Kingdom Childhood Cancer Study Investigators.		125860	2064	1	1999												
131876	Y	Lung cancer	CANCER	CAN	Lung Neoplasms	16	16q22.1	NQO1	68300804	68318034		Wiencke JK et al. 1997	9037558				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			Cancer epidemiology, biomarkers & prevention. 1997 Feb;6(2):87-92	Lung cancer in Mexican-Americans and African-Americans is associated withwild-type genotype NAD(P)H: quinone oxidoreductase polymorphism.		125860	2066	1	1997												
131870	Y	esophageal squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Zhang J et al. 2003	12771035				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese	China|Germany	KGB	1728	Hs.406515			Carcinogenesis. 2003 May;24(5):905-9	Association of NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T polymorphism with esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population.		125860	2060	1	2003												
131871		smoking	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Rosvold EA et al. 1995	8528266				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515	smoking		Pharmacogenetics. 1995 Aug;5(4):199-206	Identification of an NAD(P)H:quinone oxidoreductase polymorphism and its association with lung cancer and smoking.		125860	2061	1	1995												
131872	Y	decreased lung cancer risk	CANCER	CAN	Lung Neoplasms	16	16q22.1	NQO1	68300804	68318034		Chen H et al. 1999	10397241				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Hawaii|Japan	KGB	1728	Hs.406515			Cancer research. 1999 Jul;59(13):3045-8	Association of the NAD(P)H:quinone oxidoreductase 609C-->T polymorphism with a decreased lung cancer risk.		125860	2062	1	1999												
131865	Y	obesity	METABOLIC	MET	Obesity	4	4q31-q32	NPY5R	164484540	164492536		Jenkinson CP et al. 2000	10849579				Neuropeptide Y receptor Y5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006174.2			KGB	4889	Hs.519058			International journal of obesity and related metabolic disorders. 2000 May;24(5):580-4	Novel polymorphisms in the neuropeptide-Y Y5 receptor associated with obesity in Pima Indians.		602001	4777	1	2000	 Considering the importance of this gene in regulation of body weight, the association of these polymorphisms with extremes of BMI in Pima Indians indicates that NPY5R, or a locus nearby, may contribute to susceptibility to obesity in this population.											
131866		cholesterol, HDL; triglyceride	METABOLIC	MET	Obesity	4	4q31-q32	NPY5R	164484540	164492536		Blumenthal, J.  et al. 2002	12220433				Neuropeptide Y receptor Y5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006174.2			CDC GDPinfo	4889	Hs.519058			Clinical genetics. 2002 Sep;62(3):196-202	Novel neuropeptide Y1 and Y5 receptor gene variants: associations with serum triglyceride andhigh-density lipoprotein cholesterol levels.		602001	23165	2	2002	Given the stimulatory effect of NPY on adipocyte lipoprotein lipase (LPL) activity, and the lack of association of other polymorphisms with serum lipid levels, we hypothesize that this is a gain-in-function polymorphism.	Cohort 306 obese subjects 										
131867	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	4	4q31-q32	NPY5R	164484540	164492536		Barker-Gibb, M.  et al. 2004	15302312				Neuropeptide Y receptor Y5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006174.2			CDC GDPinfo	4889	Hs.519058			Fertility and sterility. 2004 Aug;82(2):491-4	Genotype analysis of the neuropeptide Y (NPY) Y1 and NPY Y5 receptor genes in gonadotropin-releasing hormone-dependent precocious gonadarche.		602001	23166	2	2004	Although variants were not identified in the NPY Y1 receptor gene, 4 patients and 20 control subjects carried a G-->A transition resulting in a silent variant, G426G, suggesting that NPY Y1 and Y5 receptor variants do not play a major role in our patient population.	Case:15 patients with precocious gonadarche (mean age, 6.84 +/- 2.07 years);Control:72:controls										
131861	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	4	4q31.3-q32	NPY1R	164464511	164473198		Barker-Gibb, M.  et al. 2004	15302312				Neuropeptide Y receptor Y1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000909.4			CDC GDPinfo	4886	Hs.519057			Fertility and sterility. 2004 Aug;82(2):491-4	Genotype analysis of the neuropeptide Y (NPY) Y1 and NPY Y5 receptor genes in gonadotropin-releasing hormone-dependent precocious gonadarche.		162641	18697	2	2004	Although variants were not identified in the NPY Y1 receptor gene, 4 patients and 20 control subjects carried a G-->A transition resulting in a silent variant, G426G, suggesting that NPY Y1 and Y5 receptor variants do not play a major role in our patient population.	Case:15 patients with precocious gonadarche (mean age, 6.84 +/- 2.07 years);Control:72:controls										
131862		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	4	4q31.3-q32	NPY1R	164464511	164473198		Loos, R. J.  et al. 2004	15597110				Neuropeptide Y receptor Y1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000909.4		Quebec	CDC GDPinfo	4886	Hs.519057			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		162641	27580	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
131863		obesity; blood pressure, arterial	METABOLIC	MET	Obesity|Obesity, Morbid|Genetic Predisposition to Disease|Overweight	4	4q31	NPY2R	156349230	156357678		Lavebratt, C.  et al. 2005	16331299				Neuropeptide Y receptor Y2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000910.2	Swedish		CDC GDPinfo	4887	Hs.37125			International journal of obesity (2005). 2005	Common neuropeptide Y2 receptor gene variant is protective against obesity among Swedish men		162642	18695	2	2005	 A common and conserved variant of the PYY and NPY receptor Y2R is less prevalent among obese compared to among lean Swedish men. This suggests that the common Y2R variant is protective against obesity. Our findings further implicate Y2R in food intake regulation.											
131857		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Loos, R. J.  et al. 2004	15597110				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		Quebec	CDC GDPinfo	4852	Hs.1832			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		162640	27155	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
131858		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Warpeha, K. M.  et al. 2003	12724690				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		162640	28250	2	2003	Review article											
131859		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Dick, D. M.  et al. 2003	12766633				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		162640	28353	2	2003	Review article											
131860		cholesterol, HDL; triglyceride	METABOLIC	MET	Obesity	4	4q31.3-q32	NPY1R	164464511	164473198		Blumenthal, J.  et al. 2002	12220433				Neuropeptide Y receptor Y1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000909.4			CDC GDPinfo	4886	Hs.519057			Clinical genetics. 2002 Sep;62(3):196-202	Novel neuropeptide Y1 and Y5 receptor gene variants: associations with serum triglyceride andhigh-density lipoprotein cholesterol levels.		162641	18696	2	2002	Given the stimulatory effect of NPY on adipocyte lipoprotein lipase (LPL) activity, and the lack of association of other polymorphisms with serum lipid levels, we hypothesize that this is a gain-in-function polymorphism.	Cohort 306 obese subjects 										
131853		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	7	7p15.1	NPY	24290333	24298002		Zhu, G.  et al. 2003	12544000				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Finnish	Finland|Sweden	CDC GDPinfo	4852	Hs.1832			Alcoholism, clinical and experimental research. 2003 Jan;27(1):19-24	NPY leu7pro and Alcohol Dependence in Finnish and Swedish Populations		162640	18694	2	2003	 Pro7 does not seem to be associated with a diagnosis of alcoholism in Caucasian populations.	Case:135/472 Finnish ( = 135) and Swedish ( = 472) alcohol dependent individuals;Control:213/177 ethnically matched controls to Finns (n=213) and:Swedes (n=177)										
131855		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, Large-cell, Diffuse|Obesity	7	7p15.1	NPY	24290333	24298002		Skibola, D. R.  et al. 2005	15894681				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		California	CDC GDPinfo	4852	Hs.1832			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1251-6	Polymorphisms in ghrelin and neuropeptide Y genes are associated with non-Hodgkin lymphoma.		162640	23164	2	2005	These results add further support for the hypothesis that SNPs in energy-regulating genes affect risk of NHL.	Case:458 non-hodgkin lymphoma cases;Control:812:controls										
131856	Y	obesity	METABOLIC	MET	Obesity	7	7p15.1	NPY	24290333	24298002		Mattevi, V. S.  et al. 2002	12187394				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Caucasian	Brazil	CDC GDPinfo	4852	Hs.1832			International journal of obesity and related metabolic disorders. 2002 Sep;26(9):1179-85	Association analysis of genes involved in the leptin-signaling pathway with obesity in Brazil		162640	25379	2	2002	 Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.	Cohort 183/153 women (n=183) and men (n=153) 	smoking (tobacco)									
131849	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	7	7p15.1	NPY	24290333	24298002		Mottagui-Tabar, S.  et al. 2005	15897713				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		Sweden	CDC GDPinfo	4852	Hs.1832			Alcoholism, clinical and experimental research. 2005 May;29(5):702-7	A novel single nucleotide polymorphism of the neuropeptide Y (NPY) gene associated with alcohol dependence.		162640	12938	2	2005	 We report a novel polymorphism at position -602 in the 5' region of the NPY gene that is significantly associated with alcohol dependence. We also describe the haplotype frequencies and linkage dysequilibrium pattern of four variations in that region.	Case:428/149 Nordic alcohol-dependent individuals (n = 428 males; n = 149 females);Control:84/93 ethnically matched controls (n = 84 males; n = 93 females) for whom alcohol dependence or any diagnosis of substance disorder was excluded										
131850	Y	diabetes, type 2; glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Nordman, S.  et al. 2005	15926114	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Swedish	Sweden	CDC GDPinfo	4852	Hs.1832			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):282-7	Leu7Pro polymorphism in the neuropeptide Y (NPY) gene is associated with impaired glucose tolerance and type 2 diabetes in Swedish men.		162640	12939	2	2005	The present study thus provides the evidence that Leu7Pro polymorphism in the NPY gene is associated with IGT and T2DM in Swedish men, and indicates that the NPY gene variations contribute to development of T2DM. Questions of gender specificity may be explained by genetic backgrounds, sense of coherence for stress and other factors in environment.	Case:263/309 Caucasian patients with type 2 diabetes (n=263) and subjects with impaired glucose tolerance (n=309):Sweden;Control:469 non-diabetic healthy individuals										
131851	Y	cholesterol	METABOLIC	MET	Alzheimer Disease|Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Kolsch, H.  et al. 2005	15959845				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			J Neural Transm. 2006 Feb;113(2):231-8	Polymorphism in neuropeptide Y influences CSF cholesterol levels but is no major risk factor of Alzheimer's disease.		162640	12940	2	2005												
131846	Y	bone density	METABOLIC	MET		7	7p15.1	NPY	24290333	24298002		Heikkinen, A. M.  et al. 2004	15336593	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Bone. 2004 Sep;35(3):589-94	Leucine7 to proline7 polymorphism in prepro-NPY gene and femoral neck bone mineral density in postmenopausal women		162640	12935	2	2004	We conclude that  the Leu7/Pro7 polymorphism in NPY signal gene may favorably affect femoral neck BMD in postmenopausal women.	Cohort 316 early postmenopausal women participating in a randomized controlled trial nested in the population-based Kuopio Osteoporosis Risk Factor and Prevention (OSTPRE) study 										
131847	Y	body mass	METABOLIC	MET		7	7p15.1	NPY	24290333	24298002		Ding, B.  et al. 2005	15680469				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Regulatory peptides. 2005 Apr;127(3-Jan):45-53	Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode offunction.		162640	12936	2	2005	Our findings in humans strongly indicate that the NPY signaling system is implicated in body weight regulation and suggest a new and unexpected functional role of a signal peptide.	Cohort individuals from two separate Swedish populations (normal and overweight individuals) 										
131848	Y	glucose tolerance; insulin; vascular disease	METABOLIC	MET		7	7p15.1	NPY	24290333	24298002		Jaakkola, U.  et al. 2005	15797951	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			The Journal of clinical endocrinology and metabolism. 2005 Jun;90(6):3646-52	The Leu7Pro polymorphism of preproNPY is associated with decreased insulin secretion, delayed ghrelin suppression, and increased cardiovascular responsiveness to norepinephrine during oral glucose tolerance test.		162640	12937	2	2005	 The Leu7Pro polymorphism of preproNPY is related to decreased level of basal sympathetic activity, decreased insulin secretion, and delayed ghrelin suppression during oral glucose tolerance test. The increased responsiveness of autonomic functions to NE associated with the polymorphism may be connected to increased cardiovascular vulnerability.	Cohort 27 healthy volunteers representing two preproNPY genotypes (Leu7/Pro7 and Leu7/Leu7) matched for age, sex, BMI and physical activity 										
131843		alcohol abuse	CHEMDEPENDENCY	CHEM		7	7p15.1	NPY	24290333	24298002		Ding, B.   2003	14628185	T1128C			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			J Neural Transm. 2003 Nov;110(11):1199-204	Distribution of the NPY 1128C allele frequency in different populations		162640	12932	2	2003	The 1128C allele was observed in all populations of European descent and the Israeli population, with a mean frequency of about 4%. The allele frequency showed a geographical north to south gradient of decreasing frequency. The highest allele frequencies were found in Nordic countries. The NPY 1128C allele might originate in the north of Europe, and then spread to neighboring regions.	Cohort 6,626 subjects from Europe, North-America, South-America, Asia and the Middle-East Europe, N-America, S-America, Asia and Middle-East 										
131844	Y	atherosclerosis, coronary; diabetes, type 1; nephropathy in other diseases	CARDIOVASCULAR	CARD	Proteinuria|Coronary Disease|Diabetes Mellitus, Type 1	7	7p15.1	NPY	24290333	24298002		Pettersson-Fernholm, K.  et al. 2004	14747236	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Diabetes care. 2004 Feb;27(2):503-9	Leucine 7 to proline 7 polymorphism in the preproneuropeptide Y is associated with proteinuria, coronary heart disease, and glycemic control in type 1 diabetic patients.		162640	12933	2	2004	 We conclude that the Leu7Pro polymorphism may contribute to the genetic susceptibility to diabetic nephropathy and CHD in type 1 diabetic patients, possibly by influencing glycemic control and triglycerides.	Case type 1 diabetic patients from the Finnish Diabetic Nephropathy study;Control controls from the Finnish Diabetic Nephropathy:study:Cohort:996 patients from the Finnish Diabetic Nephropathy:study										
131845	Y	cholesterol; cholesterol, HDL; lipoprotein, LDL; triglycerides; hypertension	METABOLIC	MET	Cerebrovascular Accident|Hypertension	7	7p15.1	NPY	24290333	24298002		Wallerstedt, S. M.  et al. 2004	15201542	T1128C			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Swedish	Sweden	CDC GDPinfo	4852	Hs.1832			Journal of hypertension. 2004 Jul;22(7):1277-81	Association analysis of the polymorphism T1128C in the signal peptide of neuropeptide Y in a Swedish hypertensive population.		162640	12934	2	2004	 The present study indicates that the NPY T1128C polymorphism is an independent predictor for myocardial infarction and stroke in a Swedish hypertensive population.	Cohort 1,032 hypertensive patients (174 myocardial infarction and 170 stroke patients and 688 matched controls) Sweden 										
131840	Y	alcohol withdrawal	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Substance Withdrawal Syndrome|Genetic Predisposition to Disease	7	7p15.1	NPY	24290333	24298002		Koehnke, M. D.  et al. 2002	12454738	T1128C			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			J Neural Transm. 2002 Nov;109(11):1423-9	Severity of alcohol withdrawal symptoms and the T1128C polymorphism of the neuropeptide Y gene.		162640	12929	2	2002	Alcoholics carrying the C-allele reported a non significantly elevated daily consumption of alcohol compared to alcoholics with the TT genotype. All alcohol dependent subjects with severe withdrawal symptoms revealed a significantly elevated daily consumption of alcohol compared to alcoholics with only mild withdrawal symptoms. More studies on different ethnic groups are needed to further elucidate the influence of the NPY gene on alcoholism.	Control:102:controls;Case:216 alcoholics (subgrouped into those with severe withdrawal symptoms and mild withdrawal symbptoms)										
131841		hypertension	CARDIOVASCULAR	CARD	Obesity	7	7p15.1	NPY	24290333	24298002		Portoles, O.  et al. 2003	12646110	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Spanish	Spain	CDC GDPinfo	4852	Hs.1832			Med Clin (Barc). 2003 Mar;120(9):337-9	[Low prevalence of the Leu7/Pro polymorphism in the signal peptide of preproneuropeptide Y in the Spanish Mediterranean population]		162640	12930	2	2003	 This low prevalence suggests that the Pro7 allele is not one of the genetic determinant factors affecting obesity, plasma lipids or alcoholism in this population.	Cohort 1,000 individuals from the Mediterranean Spanish population 										
131842	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	7	7p15.1	NPY	24290333	24298002		Pesonen, U.  et al. 2003	12932169	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Journal of endovascular therapy. 2003 Jun;10(3):566-72	Leucine 7 to proline 7 polymorphism of the preproneuropeptide y gene is not associated with restenosis after coronary stenting		162640	12931	2	2003	 Our results suggest that the Leu7 to Pro7 polymorphism of the preproNPY gene is not associated with angiographic restenosis or adverse clinical events after stent placement in coronary arteries.	Cohort 1,850 consecutive patients with symptomatic coronary artery disease undergoing coronary stent implantation 										
131837	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	7	7p15.1	NPY	24290333	24298002		Ilveskoski, E.  et al. 2001	11696660				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Alcoholism, clinical and experimental research. 2001 Oct;25(10):1420-2	Association of neuropeptide y polymorphism with the occurrence of type 1 and type 2 alcoholism		162640	12926	2	2001	 We speculate that the genetic polymorphism producing the proline(7) substitution of NPY might not predispose to alcoholism, but indeed retard the transition to alcoholism.	Case:122 alcoholics classified as type 1 and type 2 subtypes by psychiatric evaluation;Control:59 social drinkers										
131838	Y	cholesterol, HDL; triglycerides; coronary heart disease; cholesterol, LDL; cholesterol, total	METABOLIC	MET	Coronary Disease	7	7p15.1	NPY	24290333	24298002		Erkkila, A. T.  et al. 2002	11914038	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Molecular genetics and metabolism. 2002 Mar;75(3):260-4	Association of leucine 7 to proline 7 polymorphism in the preproneuropeptide y with serum lipids in patients with coronary heart disease		162640	12927	2	2002	In conclusion, the Pro7 allele in the NPY gene was associated with higher serum total cholesterol concentration only in women with CHD who did not use lipid-lowering drugs.	Cohort 414 coronary heart disease patients (mean age 61 years, range 33-74) 	lipid-lowering drugs									
131839	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Stress Disorders, Post-Traumatic|Depressive Disorder|Schizophrenia	7	7p15.1	NPY	24290333	24298002		Lappalainen, J.  et al. 2002	12215082	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		United States|Europe	CDC GDPinfo	4852	Hs.1832			Archives of general psychiatry. 2002 Sep;59(9):825-31	A functional neuropeptide Y Leu7Pro polymorphism associated with alcohol dependence in a large population sample from the United States.		162640	12928	2	2002	 These results suggest that the NPY Pro7 allele is a risk factor for alcohol dependence. This is only the second specific genetic mechanism ever identified that modulates risk for alcohol dependence.	Cohort 8 population samples, including African Americans and European Americans (total n = 551); and 4 samples of individuals with Alzheimer disease, schizophrenia, posttraumatic stress disorder, and major depression (total n = 502). ;Control:202 psychiatrically screened European American controls;Case:307/160 European American alcohol-dependent subjects (2 independently collected samples, sample 1, n = 307; sample 2, n = 160)										
131833		diurnal sympathoadrenal balance and pituitary hormone secretion	OTHER	OTH		7	7p15.1	NPY	24290333	24298002		Kallio J 2003	12843176				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3278-83	Changes in diurnal sympathoadrenal balance and pituitary hormone secretion in subjects with Leu7Pro polymorphism in the prepro-neuropeptide Y.		162640	4743	1	2003												
131834		depression	PSYCH	PSY	Genetic Predisposition to Disease|Recurrence|Depressive Disorder	7	7p15.1	NPY	24290333	24298002		Heilig M 2004	14757324				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			Journal of psychiatric research. 2004 Mar-Apr;38(2):113-21	Decreased cerebrospinal fluid neuropeptide Y (NPY) in patients with treatment refractory unipolar major depression: preliminary evidence for association with preproNPY gene polymorphism.		162640	4744	1	2004												
131836	Y	lipids; blood pressure; atherosclerosis, carotid	OTHER	OTH	Carotid Artery Diseases|Disease Progression	7	7p15.1	NPY	24290333	24298002		Karvonen, M. K.  et al. 2001	11689216	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Finnish	Finland	CDC GDPinfo	4852	Hs.1832			Atherosclerosis. 2001 Nov;159(1):145-51	Leucine7 to proline7 polymorphism in the preproneuropeptide Y is associated with the progression of carotid atherosclerosis, blood pressure and serum lipids in Finnish men		162640	12925	2	2001	This study provides important evidence suggesting that the Pro7 substitution in the prepro-NPY is an important risk factor for accelerated atherosclerotic progression, increased blood pressure and increased serum cholesterol in humans.	Cohort 966 men aged 42-60 years (population-based sample ) 										
131830	Y	diabetes, type 2	METABOLIC	MET	Carotid Stenosis|Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7p15.1	NPY	24290333	24298002		Niskanen L et al. 2000	10852461				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			The Journal of clinical endocrinology and metabolism. 2000 Jun;85(6):2266-9	Leucine 7 to proline 7 polymorphism in the neuropeptide Y gene is associated with enhanced carotid atherosclerosis in elderly patients with type 2 diabetes and control subjects.		162640	4740	1	2000												
131831	Y	progression of carotid atherosclerosis blood pressure and serum lipids	OTHER	OTH	Carotid Artery Diseases|Disease Progression	7	7p15.1	NPY	24290333	24298002		Karvonen MK et al. 2001	11689216				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		Finland	KGB	4852	Hs.1832			Atherosclerosis. 2001 Nov;159(1):145-51	Leucine7 to proline7 polymorphism in the preproneuropeptide Y is associated with the progression of carotid atherosclerosis blood pressure and serum lipids in Finnish men.		162640	4741	1	2001	This study provides important evidence suggesting that the Pro7 substitution in the prepro-NPY is an important risk factor for accelerated atherosclerotic progression, increased blood pressure and increased serum cholesterol in humans.	Cohort 966 men aged 42-60 years (population-based sample )										
131832	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7p15.1	NPY	24290333	24298002		Itokawa M 2003	12875921			5'promoter	Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			Neuroscience letters. 2003 Aug;347(3):202-4	Association between a novel polymorphism in the promoter region of the neuropeptide Y gene and schizophrenia in humans.		162640	4742	1	2003												
131825	Y	hypertension; cardiovascular disease	CARDIOVASCULAR	CARD	Hypertension	5	5p14-p13	NPR3	32747421	32823011		Pitzalis, M. V.  et al. 2003	12872042				Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000908.2			CDC GDPinfo	4883	Hs.237028			Journal of hypertension. 2003 Aug;21(8):1491-6	Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype.		108962	23162	2	2003	 The novel Npr1 gene 3C variant and the Npr3 gene C(-55) allele are associated with hypertensive family history. Moreover, the functional Npr1 3C variant, when homozygous, is also associated with higher systolic blood pressure and prolonged ventricular relaxation.	Cohort 45/52 young normotensive subjects (19 males, 26.8 +/- 3.7 years) with accurately assessed family history of hypertension (FH+) and 52 (26 males, 26.1 +/- 3.1 years) without (FH-) 	family history									
131826	Y	birth weight and serum triglyceride concentration	OTHER	OTH	Birth Weight	7	7p15.1	NPY	24290333	24298002		Karvonen MK et al. 2000	10770181				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			The Journal of clinical endocrinology and metabolism. 2000 Apr;85(4):1455-60	Leucine 7 to proline 7 polymorphism in the preproneuropeptide Y is associated with birth weight and serum triglyceride concentration in preschool aged children.		162640	4736	1	2000												
131827	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7p15.1	NPY	24290333	24298002		Niskanen L et al. 2000	10926322				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		Finland	KGB	4852	Hs.1832			Experimental and clinical endocrinology & diabetes. 2000 ;108(3):235-6	Leucine 7 to proline 7 polymorphism in the neuropeptide y gene is associated with retinopathy in type 2 diabetes.		162640	4737	1	2000												
131822	Y	Abdominal adiposity and Hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity	5	5p14-p13	NPR3	32747421	32823011	<0.05	Sarzani R 1999	10489108			5'promoter	Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000908.2	white Caucasian obese hypertensives		Sarzani R	4883	Hs.237028			Journal of hypertension. 1999 Sep;17(9):1301-5	A novel promoter variant of the natriuretic peptide clearance receptor gene is associated with lower atrial natriuretic peptide and higher blood pressure in obese hypertensives.		108962	4776	1	1999	 A common 'ancestral' C(-55) variant of the NPRC P1 promoter is associated with lower ANP levels and higher SBP and MBP in obese hypertensives. The C(-55) variant, in the presence of increased adiposity, might reduce plasma ANP through increased NPRC-mediated ANP clearance, contributing to higher blood pressure.	Case:21; Control:11										
131823		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease|Recurrence	5	5p14-p13	NPR3	32747421	32823011		Rubattu, S.  et al. 2004	15017020				Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000908.2			CDC GDPinfo	4883	Hs.237028			Stroke; a journal of cerebral circulation. 2004 Apr;35(4):814-8	Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans.		108962	12923	2	2004	 Our findings support a direct contributory role of ANP to stroke in humans. A significant interaction between ANP and NPRA on stroke occurrence was found.	Case:206 ischemic stroke cases:Sardinia, Italy;Control:236:controls										
131824	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity	5	5p14-p13	NPR3	32747421	32823011		Aoi, N.  et al. 2004	15785005				Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000908.2			CDC GDPinfo	4883	Hs.237028			Hypertension research. 2004 Oct;27(10):711-6	Variable number of tandem repeat of the 5'-flanking region of type-C human natriuretic peptide receptor gene influences blood pressure levels in obesity-associated hypertension.		108962	18693	2	2004	This suggests that the VNTR of the 5'-flanking region of the NPRC gene influences blood pressure levels in obesity-associated hypertension.	Control:212 normotensive controls;Case:242 essential hypertensive patients	obesity									
131819	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9p21-p12	NPR2	35782405	35799728	n	Rahmutula D et al. 2000	11208455				Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003995.3			KGB	4882	Hs.78518			Medical science monitor. 2000 Nov-Dec;6(6):1056-60	A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction.		108961	4775	1	2000	 Our data indicate that the C2077T polymorphism is not a useful marker of the relation between the hNPRB gene and MI in the Japanese and variations of the hNPRB gene that may be in linkage disequilibrium with this polymorphism do not play a causative role in MI.	Control:139 non-myocardial infarction age-matched control:subjects;Case:163 myocardial infarction patients										
131820	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9p21-p12	NPR2	35782405	35799728		Rahmutula, D.  et al. 2000	11208455	C2077T			Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003995.3	Japanese		CDC GDPinfo	4882	Hs.78518			Medical science monitor. 2000 Nov-Dec;6(6):1056-60	A C2077T polymorphism of the type B human natriuretic peptide receptor gene is not associated with myocardial infarction.		108961	12921	2	2000	 Our data indicate that the C2077T polymorphism is not a useful marker of the relation between the hNPRB gene and MI in the Japanese and variations of the hNPRB gene that may be in linkage disequilibrium with this polymorphism do not play a causative role in MI.	Control:139 non-myocardial infarction age-matched control:subjects;Case:163 myocardial infarction patients										
131821	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	9	9p21-p12	NPR2	35782405	35799728		Rahmutula, D.  et al. 2001	11464256				Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003995.3			CDC GDPinfo	4882	Hs.78518			Journal of human hypertension. 2001 Jul;15(7):471-4	Systematic screening of type B human natriuretic peptide receptor gene polymorphisms and association with essential hypertension.		108961	12922	2	2001	Although the I/D polymorphism in intron 18 of the NPRB gene was not associated with EH, the results of this study, which identified two novel polymorphisms in the human NPRB gene, will facilitate further genetic analysis of this gene and cardiovascular disease.	Case:123 essential hypertension patients;Control:123 age-matched normotensive control subjects										
131816	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q21-q22	NPR1	151917736	151933088		Nakayama, T.  et al. 2003	14646971				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2	Japanese	Japan	CDC GDPinfo	4881	Hs.490330			Medical science monitor. 2003 Dec;9(12):CR505-10	Missense mutation of exon 3 in the type A human natriuretic peptide receptor gene is associated with myocardial infarction.		108960	18691	2	2003	 We conclude that the M341I missense mutation is associated with risk for MI and may be a genetic marker of MI in Japanese people.	Case:230 patients with myocardial infarction, all of whom were below the age of 70 years;Control:305 healthy controls										
131817	Y	hypertension; cardiovascular disease	CARDIOVASCULAR	CARD	Hypertension	1	1q21-q22	NPR1	151917736	151933088		Pitzalis, M. V.  et al. 2003	12872042				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2			CDC GDPinfo	4881	Hs.490330			Journal of hypertension. 2003 Aug;21(8):1491-6	Allelic variants of natriuretic peptide receptor genes are associated with family history of hypertension and cardiovascular phenotype.		108960	18692	2	2003	 The novel Npr1 gene 3C variant and the Npr3 gene C(-55) allele are associated with hypertensive family history. Moreover, the functional Npr1 3C variant, when homozygous, is also associated with higher systolic blood pressure and prolonged ventricular relaxation.	Cohort 45/52 young normotensive subjects (19 males, 26.8 +/- 3.7 years) with accurately assessed family history of hypertension (FH+) and 52 (26 males, 26.1 +/- 3.1 years) without (FH-) 	family history									
131818	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	9	9p21-p12	NPR2	35782405	35799728		Rehemudula D et al. 1999	10082481				Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003995.3			KGB	4882	Hs.78518			Circulation research. 1999 Mar;84(5):605-10	Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension.		108961	4774	1	1999												
131812	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2q24-qter	NPPC	232498378	232499203		Ono K et al. 2002	12452325				Natriuretic peptide precursor C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024409.1			KGB	4880	Hs.247916			Hypertension research. 2002 Sep;25(5):727-30	A single-nucleotide polymorphism in C-type natriuretic peptide gene may be associated with hypertension.		600296	4771	1	2002												
131814		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q21-q22	NPR1	151917736	151933088		Nakayama T et al. 2002	12135318				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2			KGB	4881	Hs.490330			Hypertension research. 2002 May;25(3):395-401	A novel missense mutation of exon 3 in the type A human natriuretic peptide receptor gene: possible association with essential hypertension.		108960	4773	1	2002	We conclude that  the significance of homozygous M3411 mutation in exon 3 is worth investigating for its possible association with EH.	Case:210 essential hypertension patients;Control:210 normotensive controls										
131815		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q21-q22	NPR1	151917736	151933088		Nakayama, T.  et al. 2002	12135318				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2			CDC GDPinfo	4881	Hs.490330			Hypertension research. 2002 May;25(3):395-401	A novel missense mutation of exon 3 in the type A human natriuretic peptide receptor gene: possibleassociation with essential hypertension		108960	18690	2	2002	We conclude that  the significance of homozygous M3411 mutation in exon 3 is worth investigating for its possible association with EH.	Case:210 essential hypertension patients;Control:210 normotensive controls										
131808		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	1	1p36.21	NPPA	11828362	11830422		Zee, R. Y.  et al. 2002	12082592				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		108780	28662	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
131810	Y	low bone-mineral density and rapid postmenopausal bone loss	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1p36.2	NPPB	11840107	11841579		Kajita M et al. 2003	12601551			promoter	Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2		Japan	KGB	4879	Hs.219140			Journal of human genetics. 2003 ;48(2):77-81	Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss.		600295	4770	1	2003	These results suggest that variation of BNP may be an important determinant of postmenopausal osteoporosis, in part through the mechanism of accelerated postmenopausal bone loss.	Cohort 378 Japanese postmenopausal women										
131811		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1p36.2	NPPB	11840107	11841579		Kajita, M.  et al. 2003	12601551			promoter	Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2		Japan	CDC GDPinfo	4879	Hs.219140			Journal of human genetics. 2003 ;48(2):77-81	Association of the -381T/C promoter variation of the brain natriuretic peptide gene with low bone-mineral density and rapid postmenopausal bone loss.		600295	18689	2	2003	These results suggest that variation of BNP may be an important determinant of postmenopausal osteoporosis, in part through the mechanism of accelerated postmenopausal bone loss.	Cohort 378 Japanese postmenopausal women 										
131805		nephropathy in other diseases	RENAL	REN	Diabetes Mellitus, Type 1	1	1p36.21	NPPA	11828362	11830422		Roussel, R.  et al. 2004	15111511				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			Diabetes. 2004 May;53(5):1394-8	Investigation of the human ANP gene in type 1 diabetic nephropathy: case-control and follow-upstudies		108780	18688	2	2004	The raw effect of the 2238C allele (hazard risk ratio 1.93, 95% CI 1.15-3.24; P = 0.012) was further confirmed by the haplotype analysis, suggesting that the 2238C allele of PND may affect the course of nephropathy in inadequately controlled type 1 diabetic patients.	Cohort 301 type 1 diabetic patients in a 6-year follow-up study Cohort 489 type 1 diabetic patients 										
131806		renin activity; aldosterone	UNKNOWN	UNK	Hypertension	1	1p36.21	NPPA	11828362	11830422		Tiago, A. D.  et al. 2001	11447495				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	South African	South Africa	CDC GDPinfo	4878	Hs.75640			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		108780	27579	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
131807		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Shaw, G. M.  et al. 2005	16100725				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		California	CDC GDPinfo	4878	Hs.75640			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		108780	27810	2	2005			smoking (tobacco), maternal									
131802	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422			16368448				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	Chinese		CDC GDPinfo	4878	Hs.75640			Clinical therapeutics. 2005 Nov;27(11):1774-84	Association between human atrial natriuretic peptide Val7Met polymorphism and baseline blood pressure, plasma trough irbesartan concentrations, and the antihypertensive efficacy of irbesartan in Rural Chinese patients with essential hypertension		108780	12920	2	2005	: The findings of this study suggest thatin these rural Chinese patients with essential hypertension, ANP Val7Met polymorphism may be a genetic marker for baseline DBP, plasma irbesartan concentrations, and the antihypertensive efficacy of short-term irbesartan therapy.		ibesartan									
131803	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422		Rahmutula, D.  et al. 2001	11409652				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	Japanese		CDC GDPinfo	4878	Hs.75640			Hypertension research. 2001 May;24(3):291-4	Association study between the variants of the human ANP gene and essential hypertension.		108780	18686	2	2001	Our findings do not support the hypothesis that the G1837A and T2238C polymorphisms of the ANP gene are markers for EH in the Japanese.	Control:213 age-matched normotensive individuals:Japan;Case:233 individuals with essential hypertension:Japan										
131804		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Kato, N.  et al. 2002	12052474				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			Atherosclerosis. 2002 Aug;163(2):279-86	Evaluation of the atrial natriuretic peptide gene in stroke.		108780	18687	2	2002	Overall results did not support the disease relevance of ANP, disagreeing with previous reports. Thus, considerable caution should be taken when one attempts to transfer findings in the animal model to humans.	Case Japanese stroke patients;Control:controls										
131799	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	1	1p36.21	NPPA	11828362	11830422		Gruchalsol;a, M.  et al. 2003	12514664				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			American heart journal. 2003 Jan;145(1):125-31	Association of the ScaI atrial natriuretic peptide gene polymorphism with nonfatal myocardial infarction and extent of coronary artery disease		108780	12917	2	2003	 Our results suggest that the ScaI ANP polymorphism may be associated with nonfatal myocardial infarction and the extent of CAD. However, the precise mechanism of this association remains to be determined.	Cohort 847 consecutive, white patients (719 men and 128 women) with significant coronary artery stenosis confirmed by means of elective coronary angiography (at least 1 coronary artery with >/=50% lumen narrowing) 										
131800	Y	albuminuria	HEMATOLOGICAL	HEM	Proteinuria|Albuminuria|Hypertension|Diabetes Mellitus|Glucose Intolerance|Diabetes Complications	1	1p36.21	NPPA	11828362	11830422		Nannipieri, M.  et al. 2003	12687344				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		Mexico	CDC GDPinfo	4878	Hs.75640			Diabetologia. 2003 Mar;46(3):429-32	Association between polymorphisms of the atrial natriuretic peptide gene and proteinuria: apopulation-based study.		108780	12918	2	2003	In the general population of Mexico City, both polymorphisms of ANP are associated with albuminuria independently of hypertension, and could play a role in protecting subjects against development of albuminuria.	Cohort 1,288 subjects from the general population of the Mexico City Diabetes Study Mexico City, Mexico 										
131801		hypertension; obesity	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Zorc-Pleskovic, R.  et al. 2004	15666592				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			Collegium antropologicum. 2004 Dec;28(2):617-21	The ScaI gene polymorphism of the atrial natriuretic factor and essential arterial hypertension in childhood.		108780	12919	2	2004	We failed to demonstrate an association between the ScaI ANF gene polymorphism and EAH in childhood (OR = 2; 95% CI 0.9-4.2; p = 0.07), however, we provided evidence of an interaction between the ScaI ANF gene polymorphism and obesity defined as BMI over the 85th percentile (OR = 13.1; 95% CI 1.6-106; p < 0.001).	Control:57 subjects with normal blood pressure;Case:58 children, aged 8-19 years, with the diagnosis of essential arterial hypertension										
131796		cerebrovascular disease	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Hassan, A.  et al. 2001	11706124	G664A			Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			Neurology. 2001 Nov;57(9):1726-8	Atrial natriuretic peptide gene G664A polymorphism and the risk of ischemic cerebrovascular disease.		108780	12914	2	2001	The frequency of this variant was similar in both groups and across the different stroke subtypes. The ANP gene G664A polymorphism is therefore unlikely to be an important risk factor for ischemic stroke in this population.	Control:295 community control subjects;Case:436 patients with ischemic cerebrovascular disease										
131797		cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	1	1p36.21	NPPA	11828362	11830422		Ohta, A.  et al. 2002	11985060	G664A			Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	Japanese		CDC GDPinfo	4878	Hs.75640			Rinsho byori The Japanese journal of clinical pathology. 2002 Mar;50(3):296-300	[Study of genotype frequencies of ANP 664G/A polymorphism in normal subjects and CVD patients, and its association with plasma ANP levels]		108780	12915	2	2002	These results suggest that there is a racial difference in the allele frequency of 664G/A, and that this polymorphism may not be a major risk factor for CVD in the Japanese, nor is it a major determinant of plasma ANP level.	Control:176 genter-matched control subjects;Case:199 Japanese patients with cerebrovascular disease										
131798	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422		Nkeh, B.  et al. 2002	12193960				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		Africa	CDC GDPinfo	4878	Hs.75640			Cardiovascular journal of South Africa. 2002 May-Jun;13(3):97-101	Association between an atrial natriuretic peptide gene polymorphism and normal blood pressure in subjects of African ancestry		108780	12916	2	2002	 The results of the present study suggest that the ANP, but not the NPRC locus contributes to BP in subjects of African ancestry.	Control:278 normotensive control subjects of a similar African:ancestry;Case:298 Black South African patients, diagnosed as having essential hypertension according to 24-hour ambulatory blood pressure (BP) measurements (mean daytime diastolic BP> 90 mm Hg) whilst off:medication										
131792		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422		Frossard PM et al. 1997	9397252				natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI832557	Gulf Arab	United Arab Emirates	KGB	4878	Hs.75640			American journal of hypertension. 1997 Nov;10(11):	Association study between the ANF gene and hypertension in a Gulf Arab population.		108780	4766	1	1997												
131793		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	ANP	11839869	11842401		Rahmutula D et al. 2001	11409652				natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI832557			KGB	4878	Hs.75640			Hypertension research. 2001 May;24(3):291-4	Association study between the variants of the human ANP gene and essential hypertension.		108780	4767	1	2001												
131794		cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	1	1p36.21	ANP	11839869	11842401		Ohta A et al. 2002	11985060	ANP 664G/A			natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI832557	Japanese		KGB	4878	Hs.75640	plasma ANP		Rinsho byori The Japanese journal of clinical pathology. 2002 Mar;50(3):296-300	Study of genotype frequencies of ANP 664G/A polymorphism in normal subjects and CVD patients and its association with plasma ANP levels		108780	4768	1	2002												
131788		Stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease|Recurrence	1	1p36.21	NPPA	11828362	11830422		Rubattu S 2004	15017020				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	Italian		KGB	4878	Hs.75640			Stroke; a journal of cerebral circulation. 2004 Apr;35(4):814-8	Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans.		108780	4762	1	2004	 Our findings support a direct contributory role of ANP to stroke in humans. A significant interaction between ANP and NPRA on stroke occurrence was found.											
131790	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	1	1p36.21	NPPA	11828362	11830422		Gruchala M et al. 2003	12514664				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			KGB	4878	Hs.75640			American heart journal. 2003 Jan;145(1):125-31	Association of the ScaI atrial natriuretic peptide gene polymorphism with nonfatal myocardial infarction and extent of coronary artery disease.		108780	4764	1	2003	 Our results suggest that the ScaI ANP polymorphism may be associated with nonfatal myocardial infarction and the extent of CAD. However, the precise mechanism of this association remains to be determined.	Cohort 847 consecutive, white patients (719 men and 128 women) with significant coronary artery stenosis confirmed by means of elective coronary angiography (at least 1 coronary artery with >/=50% lumen narrowing)										
131791	Y	aldosterone responsiveness to angiotensin	METABOLIC	MET	Adenoma|Hyperaldosteronism	1	1p36.21	NPPA	11828362	11830422		Tunny TJ et al. 1994	7980610				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			KGB	4878	Hs.75640			Biochemical and biophysical research communications. 1994 Nov;204(3):1312-7	Association of restriction fragment length polymorphism at the atrial natriuretic peptide gene locus with aldosterone responsiveness to angiotensin in aldosterone-producing adenoma.		108780	4765	1	1994												
131785	Y	blood pressure	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422		Nkeh B et al. 2002	12193960				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		Africa	KGB	4878	Hs.75640			Cardiovascular journal of South Africa. 2002 May-Jun;13(3):97-101	Association between an atrial natriuretic peptide gene polymorphism and normal blood pressure in subjects of African ancestry.		108780	4759	1	2002	 The results of the present study suggest that the ANP, but not the NPRC locus contributes to BP in subjects of African ancestry.	Control:278 normotensive control subjects of a similar African:ancestry;Case:298 Black South African patients, diagnosed as having essential hypertension according to 24-hour ambulatory blood pressure (BP) measurements (mean daytime diastolic BP> 90 mm Hg										
131786	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422	n	Chiang FT et al. 1996	8817409				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			KGB	4878	Hs.75640			Journal of human hypertension. 1996 May;10(5):334	Atrial natriuretic peptide gene polymorphism is not associated with essential hypertension: evidence of association with ethnic origin.		108780	4760	1	1996												
131787		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.21	NPPA	11828362	11830422		Nakayama T et al. 1999	10604494				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			KGB	4878	Hs.75640			American journal of hypertension. 1999 Nov;12(11 Pt 1):1144-8	Nucleotide sequence of the 5'-flanking region of the type A human natriuretic peptide receptor gene and association analysis using a novel microsatellite in essential hypertension.		108780	4761	1	1999												
131780		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q25-q31	NPHS2	177786298	177811691		Iwai, N.  et al. 2004	15167446				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	Japanese	Japan	CDC GDPinfo	7827	Hs.412710			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		604766	28419	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
131781		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Leukemia, Nonlymphocytic, Acute	5	5q35	NPM1	170746724	170770493		Cazzaniga, G.  et al. 2005	15870172				Nucleophosmin (nucleolar phosphoprotein B23, numatrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002520.5			CDC GDPinfo	4869	Hs.557550			Blood. 2005 Aug;106(4):1419-22	Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype.		164040	18685	2	2005												
131782		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	5	5q35	NPM1	170746724	170770493		Noguera, N. I.  et al. 2005	15973451				Nucleophosmin (nucleolar phosphoprotein B23, numatrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002520.5			CDC GDPinfo	4869	Hs.557550			Leukemia. 2005 Aug;19(8):1479-82	Simultaneous detection of NPM1 and FLT3-ITD mutations by capillary electrophoresis in acute myeloid leukemia.		164040	23161	2	2005												
131783		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	5	5q35	NPM1	170746724	170770493		Boissel, N.  et al. 2005	16046528				Nucleophosmin (nucleolar phosphoprotein B23, numatrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002520.5			CDC GDPinfo	4869	Hs.557550			Blood. 2005 Nov;106(10):3618-20	Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype.		164040	25378	2	2005												
131777	Y	microalbuniuria	OTHER	OTH	Nephrotic Syndrome|Albuminuria|Genetic Predisposition to Disease	1	1q25-q31	NPHS2	177786298	177811691		Pereira, A. C.  et al. 2004	14871423				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1			CDC GDPinfo	7827	Hs.412710			Kidney international. 2004 Mar;65(3):1026-30	NPHS2 R229Q functional variant is associated with microalbuminuria in the general population.		604766	18681	2	2004	 These data have important implications for the understanding of microalbuminuria in the general population and may contribute to better ways of disease prediction and prevention.	Cohort 1,577 individuals from a cross-sectional-based study 										
131778	Y	nephrosis	RENAL	REN	Nephrotic Syndrome	1	1q25-q31	NPHS2	177786298	177811691		Yu, Z.  et al. 2005	15769810				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	Chinese		CDC GDPinfo	7827	Hs.412710			Nephrology, dialysis, transplantation. 2005 May;20(5):902-8	Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.		604766	18683	2	2005	 The results demonstrate that NPHS2 mutations are also present in Chinese sporadic SRNS. Our investigation supports the necessity of searching for mutations in NPHS2 in Chinese children with sporadic SRNS.	Case:23 Chinese children with sporadic steroid-resistant nephrotic syndrome;Control:53:controls										
131779		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	1	1q25-q31	NPHS2	177786298	177811691		Dusel, J. A.  et al. 2005	15954915				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	African American		CDC GDPinfo	7827	Hs.412710			Kidney international. 2005 Jul;68(1):256-62	Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.		604766	18684	2	2005	 These results suggest that uncommon variants of the NPHS2 gene may play a role in the development of nondiabetic ESRD in AAs.											
131774		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	19	19q13.1	NPHS1	41008696	41034579		Iwai, N.  et al. 2004	15167446				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1	Japanese	Japan	CDC GDPinfo	4868	Hs.590942			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		602716	28386	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
131775		microalbuniuria	OTHER	OTH	Nephrotic Syndrome	1	1q25-q31	NPHS2	177786298	177811691		Wu, M. C.  et al. 2001	11241850	(c954T>C and c1038A>G)			Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	Chinese	Taiwan	CDC GDPinfo	7827	Hs.412710			Human mutation. 2001 Mar;17(3):237	Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese		604766	12912	2	2001	This result demonstrated the polymorphic C allele was more common than original T allele in Taiwan Chinese. The frequencies of the genotypes A/A, A/G, and G/G were 0.88, 0.12, and 0, respectively. These distributions were in Hardy-Weinberg equilibrium.	Cohort healthy Taiwanese population Taiwan 										
131776	N	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Kidney Failure, Chronic|Proteinuria	1	1q25-q31	NPHS2	177786298	177811691		Maruyama, K.  et al. 2003	12687458				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	Japanese	Japan	CDC GDPinfo	7827	Hs.412710			Pediatric nephrology (Berlin, Germany). 2003 May;18(5):412-6	NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.		604766	18680	2	2003	There was no significant difference in the genotypic and allelic frequencies of T954C and A1038G polymorphisms between the patients and normal controls. In conclusion, NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by sporadic SRNS or heavy proteinuria in Japanese children.	Case:36 Japanese children with chronic renal insufficiency caused by SRNS or heavy proteinuria;Control:44 normal controls										
131771	Y	nephropathy	OTHER	OTH	Glomerulonephritis|Glomerulonephritis, IGA|Nephrotic Syndrome|Proteinuria	19	19q13.1	NPHS1	41008696	41034579		Narita, I.  et al. 2003	12920248				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			CDC GDPinfo	4868	Hs.590942			Laboratory investigation; a journal of technical methods and pathology. 2003 Aug;83(8):1193-200	Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy.		602716	12911	2	2003	This study suggests that the NPHS1 G349A polymorphism may be associated with heavy proteinuria and a decline in renal function in patients with IgAN.	Control:197 healthy controls with normal urinalysis;Case:267 patients with histologically proven IgAN										
131772		congenital nephrosis	DEVELOPMENTAL	DEV	Nephrotic Syndrome	19	19q13.1	NPHS1	41008696	41034579		Kallinen, J.  et al. 2001	11241530				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1		Finland	CDC GDPinfo	4868	Hs.590942			Prenatal diagnosis. 2001 Feb;21(2):81-4	Antenatal genetic screening for congenital nephrosis		602716	18678	2	2001	The results indicate that in single-gene disorders genetic testing is suitable for antenatal screening.	Cohort 1303 pregnant women Kuopio University Hospital 										
131773		minimal change nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid	19	19q13.1	NPHS1	41008696	41034579		Lahdenkari, A. T.  et al. 2004	15086927				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			CDC GDPinfo	4868	Hs.590942			Kidney international. 2004 May;65(5):1856-63	Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).		602716	18679	2	2004	 The results suggest that genetic changes in nephrin may have a pathogenetic role in some patients with MCNS.	Case:25 adults who had biopsy-proven minimal change nephrotic syndrome in childhood;Control:25 healthy control patients										
131768	Y	Ig A nephropathy	OTHER	OTH	Glomerulonephritis|Glomerulonephritis, IGA|Nephrotic Syndrome|Proteinuria	19	19q13.1	NPHS1	41008696	41034579		Narita I 2003	12920248				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			KGB	4868	Hs.590942			Laboratory investigation; a journal of technical methods and pathology. 2003 Aug;83(8):1193-200	Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy.		602716	4757	1	2003	This study suggests that the NPHS1 G349A polymorphism may be associated with heavy proteinuria and a decline in renal function in patients with IgAN.	Control:197 healthy controls with normal urinalysis;Case:267 patients with histologically proven IgAN										
131769	N	amyotrophic lateral sclerosis.	OTHER	OTH	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	19	19q13.1	NPHS1	41008696	41034579	n	Al-Chalabi A 2003	12838531				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			KGB	4868	Hs.590942			Annals of neurology. 2003 Jul;54(1):130-4	Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.		602716	4758	1	2003												
131770	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	19	19q13.1	NPHS1	41008696	41034579		Pettersson-Fernholm, K.  et al. 2003	12631336				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			CDC GDPinfo	4868	Hs.590942			Kidney international. 2003 Apr;63(4):1205-10	Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.		602716	12910	2	2003	 This study does not support an involvement of the coding region of the nephrin gene in the pathogenesis of diabetic nephropathy in type 1 diabetic patients.	Cohort 996 Finnish type 1 diabetic patients from the FinnDiane Study 										
131764	Y	Niemann-Pick type C disease	OTHER	OTH	Niemann-Pick Diseases	18	18q11-q12	NPC1	19365460	19420426		Ribeiro I et al. 2001	11479732				Niemann-Pick disease, type C1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000271.2			KGB	4864	Hs.464779	cellular cholesterol trafficking alterations		Human genetics. 2001 Jul;109(1):24-32	Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.			4756	1	2001												
131765		cholesterol, LDL	METABOLIC	MET		7	7p13	NPC1L1	44518659	44547439		Simon, J. S.  et al. 2005	16297596				NPC1 (Niemann-Pick disease, type C1, gene)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013389.1			CDC GDPinfo	29881	Hs.567486			Genomics. 2005 Dec;86(6):648-56	Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment.		608010	18675	2	2005			ezetimibe									
131766	Y	Joubert syndrome	NEUROLOGICAL	NEUR	Kidney Diseases, Cystic|Syndrome	2	2q13	NPHP1	110237192	110319883		Parisi, M. A.  et al. 2004	15138899				Nephronophthisis 1 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000272.2			CDC GDPinfo	4867	Hs.280388			American journal of human genetics. 2004 Jul;75(1):82-91	The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.		607100	18676	2	2004	Cerebellar malformations consistent with the MTS may be relatively common in patients with juvenile NPHP without classic symptoms of JS.	Cohort 25/2 subjects with Joubert syndrome and either renal and/or retinal complications (n=25) and subjects with only juvenile NPHP (n=2) 										
131760	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Luo, X.  et al. 2004	14732589				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	African Americans		CDC GDPinfo	4855	Hs.436100			Biological psychiatry. 2004 Jan;55(2):112-7	NOTCH4 gene haplotype is associated with schizophrenia in African Americans		164951	18673	2	2004	 The haplotype -1725G/-25T at the NOTCH4 locus, which results from SNPs of NOTCH4 that are in LD, may increase susceptibility to schizophrenia in AAs. Any effect of this locus on risk for schizophrenia is population-specific.	Case:123/223 African American (N=123) and European American (n=223) schizophrenic patients;Control:85/211 African American (N=85) and European American:(n=211) controls										
131761	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Anttila, S.  et al. 2004	15115916				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Pharmacogenetics. 2004 May;14(5):303-7	Interaction between NOTCH4 and catechol-O-methyltransferase genotypes in schizophrenia patients with poor response to typical neuroleptics.		164951	23160	2	2004	 Our results suggest that an interaction between COMT and NOTCH4 genotypes may predict the treatment response to typical neuroleptics in patients with schizophrenia.	Case:94 Finnish patients with schizophrenia:Finland;Control:98:controls	neuroleptic response									
131762	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	NOTCH4	32270597	32299822		Duvefelt, K.  et al. 2004	14651518				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Tissue antigens. 2004 Jan;63(1):13-20	A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501.		164951	25377	2	2004	We conclude that  alleles of the NOTCH4 and TNFalpha genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6.	Control:180:controls;Case:181 multiple sclerosis										
131757		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Fan, J. B.  et al. 2002	11803454				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Chinese	China	CDC GDPinfo	4855	Hs.436100			Molecular psychiatry. 2002 ;7(1):100-3	A family-based and case-control association study of the NOTCH4 gene and schizophrenia.		164951	18669	2	2002	Our results would indicate that a significant role for the Notch4 gene in schizophrenia can be ruled out in the Han Chinese. However, similar studies are necessary in the Caucasian population as linkage disequilibrium arrangements and founder effects may differ between these two populations.	Case:544 Han Chinese schizophrenic patients;Control:621 controls not otherwise specified										
131758		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	NOTCH4	32270597	32299822		Tazi-Ahnini, R.  et al. 2003	12589427				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Human genetics. 2003 Apr;112(4):400-3	Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata		164951	18670	2	2003	These results support previous findings showing that different HLA susceptibility alleles are associated with mild and severe AA.	Case:116 alopecia areata patients;Control:142 ethnically matched, heatlhy controls										
131759	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Wassink, T. H.  et al. 2003	12627456				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):7-Jan	NOTCH4 and the frontal lobe in schizophrenia.		164951	18671	2	2003	These findings may reflect the interaction of NOTCH4 with the underlying genetic and phenotypic complexity that characterizes both schizophrenia and normal cognition and brain development.	Case schizophrenic patients;Control psychiatrically normal controls										
131754		schizophrenia; mood disorder	PSYCH	PSY		6	6p21.3	NOTCH4	32270597	32299822			16378929				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Yi chuan. 2005 Nov;27(6):865-8	[Association study of NOTCH4 gene polymorphisms with schizophrenia and mood disorders in mixed pedigrees]		164951	12909	2	2005												
131755	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Sklar, P.  et al. 2001	11381257				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Nature genetics. 2001 Jun;28(2):126-8	Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls.		164951	18667	2	2001	These data strongly suggest that NOTCH4 is not a significant susceptibility allele for schizophrenia.	Case not specified in abstract;Control not specified in abstract;Case:519 family-based samples (parent-offspring trios)										
131756		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		McGinnis, R. E.  et al. 2001	11381258				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Scottish		CDC GDPinfo	4855	Hs.436100			Nature genetics. 2001 Jun;28(2):128-9	Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland.		164951	18668	2	2001	We genotyped both loci in a large sample of unrelated Scottish schizophrenics and controls, but failed to replicate the reported association, finding instead that each putative schizophrenia-associated allele had a somewhat lower frequency in schizophrenics than in controls.	Case unrelated schizophrenics:Scottish;Control not specified in abstract										
131751	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	NOTCH4	32270597	32299822		Lambert, J. C.  et al. 2004	14966150			promoter	Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3		France|England|Scotland	CDC GDPinfo	4855	Hs.436100			Journal of neurology, neurosurgery, and psychiatry. 2004 Mar;75(3):377-81	Association study of Notch 4 polymorphisms with Alzheimer's disease		164951	12906	2	2004	 No association between two NOTCH4 polymorphisms alone and Alzheimer's disease was observed in the three populations, but there was evidence of an increased risk associated with the 5'-UTR CC genotype in epsilon 4 bearers in the United Kingdom. As no functionality for this polymorphism could be determined, it is likely that the interaction is spurious or results from a linkage disequilibrium of this 5'-UTR polymorphism with another marker elsewhere in the 6p21.3 locus.	Cohort subjects of Scottish, English and French origin Cohort Alzheimer's disease subjects post mortem 										
131752	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Tochigi, M.  et al. 2004	15211628				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Japanese	Japan	CDC GDPinfo	4855	Hs.436100			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):37-40	Association of six polymorphisms of the NOTCH4 gene with schizophrenia in the Japanese population		164951	12907	2	2004	In conclusion, the present study provided no clear evidence for an association between the NOTCH4 gene and schizophrenia in the Japanese population.	Control:284:controls;Case:284 Japanese schizophrenic patients										
131753		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Glatt, S. J.  et al. 2005	15653273				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Schizophrenia research. 2005 Mar;73(3-Feb):281-90	Five NOTCH4 polymorphisms show weak evidence for association with schizophrenia: evidence frommeta-analyses		164951	12908	2	2005	Heterogeneity and stronger evidence of association with the putative risk alleles of the (TAA)(n), (CTG)(n), SNP1, and SNP2 polymorphisms was observed in family-based studies than in case-control studies, suggesting that these polymorphisms may reliably influence risk for schizophrenia under certain circumstances. Since more consistent and robust associations with schizophrenia risk have been observed for haplotypes of these polymorphisms [especially those containing SNP2 and (CTG)(n)], additional large family-based or genomic-controlled studies would be helpful for definitively specifying the role of NOTCH4 haplotypes in risk for schizophrenia.											
131748	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Imai, K.  et al. 2001	11407996				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Japanese		CDC GDPinfo	4855	Hs.436100			BMC psychiatry [electronic resource]. 2001 ;1:1	The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.		164951	12903	2	2001	 Our data suggest a lack of association between the NOTCH4 gene triplet repeat polymorphism and schizophrenia in Japanese individuals.	Control:100 healthy individuals:Japan;Case:102 patients with schizophrenia (22 paranoid, 38 disorganized, 29 residual, 64 episodic, 31 continuous, 42 with prominent negative symptoms, and 46 with positive family histories):Japan										
131749	N	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Carmine, A.  et al. 2003	12605097				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3		Sweden	CDC GDPinfo	4855	Hs.436100			Psychiatric genetics. 2003 Mar;13(1):23-8	Two NOTCH4 polymorphisms and their relation to schizophrenia susceptibility and different personality traits.		164951	12904	2	2003	 The present study does not support that the investigated NOTCH4 variants have a major influence on susceptibility to schizophrenia or related neurobiological traits.	Control:135 control subjects;Case:74 Swedish schizophrenic patinets										
131750	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Anttila, S.  et al. 2003	12782960			promoter	Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDPinfo	4855	Hs.436100			Psychiatric genetics. 2003 Jun;13(2):61-4	NOTCH4 gene promoter polymorphism is associated with the age of onset in schizophrenia.		164951	12905	2	2003	 The NOTCH4 T-25C polymorphism has an important effect on the age of onset in schizophrenia and thus may be related to an early pathogenesis of schizophrenia in young patients. Alternatively, these findings may represent a significant genetic marker for managing subgroups and etiological clues in schizophrenia.	Case:94 patients with schizophrenia;Control:94 healthy age-matched and sex-matched blood donors										
131745	Y	Schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Luo X 2004	14732589			haplotype	Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	African Americans		KGB	4855	Hs.436100			Biological psychiatry. 2004 Jan;55(2):112-7	NOTCH4 gene haplotype is associated with schizophrenia in African Americans.		164951	4754	1	2004	 The haplotype -1725G/-25T at the NOTCH4 locus, which results from SNPs of NOTCH4 that are in LD, may increase susceptibility to schizophrenia in AAs. Any effect of this locus on risk for schizophrenia is population-specific.	Case:123/223 African American (N=123) and European American (n=223) schizophrenic patients;Control:85/211 African American (N=85) and European American:(n=211) controls										
131746		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	Notch4	32270597	32299822		Lambert JC 2004	14966150				Notch homolog 4 (Drosophila)		French	France|England|Scotland	KGB	4855	Hs.436100			Journal of neurology, neurosurgery, and psychiatry. 2004 Mar;75(3):377-81	Association study of Notch 4 polymorphisms with Alzheimer's disease.		164951	4755	1	2004	 No association between two NOTCH4 polymorphisms alone and Alzheimer's disease was observed in the three populations, but there was evidence of an increased risk associated with the 5'-UTR CC genotype in epsilon 4 bearers in the United Kingdom. As no functionality for this polymorphism could be determined, it is likely that the interaction is spurious or results from a linkage disequilibrium of this 5'-UTR polymorphism with another marker elsewhere in the 6p21.3 locus.	Cohort subjects of Scottish, English and French origin Cohort Alzheimer's disease subjects post mortem										
131747	N	schizophrenia; schizoaffective disorder	PSYCH	PSY	Psychotic Disorders|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Ujike, H.  et al. 2001	11239712				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Japanese		CDC GDPinfo	4855	Hs.436100			Neuroscience letters. 2001 Mar;301(1):41-4	NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder.		164951	12902	2	2001	The present study found that the NOTCH4 gene does not confer susceptibility to schizophrenia and schizoaffective disorders, at least in Japanese subjects, in contrast to the findings in British subjects.	Control:143 unspecified controls;Case:188 schizophrenic patients;Case:39 patients with schizoaffective disorder										
131742	N	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822	n	Carmine A 2003	12605097				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Swedish	Sweden	KEW	4855	Hs.436100			Psychiatric genetics. 2003 Mar;13(1):23-8	Two NOTCH4 polymorphisms and their relation to schizophrenia susceptibility and different personality traits.		164951	4751	1	2003	 The present study does not support that the investigated NOTCH4 variants have a major influence on susceptibility to schizophrenia or related neurobiological traits.	Control:135 control subjects;Case:74 Swedish schizophrenic patinets										
131743	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822	7.8e-06	Wei J 2000	10932176	The A-->G substitution in the promoter region and the (CTG)n repeat in exon 1 of NOTCH4		5'promoter	Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			KGB	4855	Hs.436100			Nature genetics. 2000 Aug;25(4):376-7	The NOTCH4 locus is associated with susceptibility to schizophrenia.		164951	4752	1	2000												
131744		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Takahashi S 2003	12873802				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	chinese		KGB	4855	Hs.436100			Biological psychiatry. 2003 Jul;54(2):129-35	Family-based association study of the NOTCH4 gene in schizophrenia using Japanese and Chinese samples.		164951	4753	1	2003	 NOTCH4 is not a significant susceptibility gene for schizophrenia when clinical heterogeneity is ignored; however, NOTCH4 may be associated with early-onset schizophrenia or schizophrenia with many negative symptoms, but these findings should be interpreted cautiously.											
131739		cerebral infarct; cerebral arteriopathy	CARDIOVASCULAR	CARD	CADASIL	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Peters, N.  et al. 2005	16009764				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			CDC GDPinfo	4854	Hs.8546			Archives of neurology. 2005 Jul;62(7):1091-4	Spectrum of mutations in biopsy-proven CADASIL:implications for diagnostic strategies.		600276	18666	2	2005	 Almost 90% of mutations could be detected within a few exons (exons 2-6). Thus, genetic testing should initially be focused on these exons, with some variation depending on the population in whom it is being performed. Yet, genetic testing for CADASIL is associated with a nameable proportion of false-negative results. Cases with a high index of clinical suspicion should be investigated by skin biopsy if genetic testing is negative.											
131740		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Fan JB et al. 2002	11803454				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3		China	KGB	4855	Hs.436100			Molecular psychiatry. 2002 ;7(1):100-3	A family-based and case-control association study of the NOTCH4 gene and schizophrenia.		164951	4749	1	2002	Our results would indicate that a significant role for the Notch4 gene in schizophrenia can be ruled out in the Han Chinese. However, similar studies are necessary in the Caucasian population as linkage disequilibrium arrangements and founder effects may differ between these two populations.	Case:544 Han Chinese schizophrenic patients;Control:621 controls not otherwise specified										
131741	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822	n	McGinnis RE et al. 2001	11381258				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Scotland		KGB	4855	Hs.436100			Nature genetics. 2001 Jun;28(2):128-9	Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland.		164951	4750	1	2001	We genotyped both loci in a large sample of unrelated Scottish schizophrenics and controls, but failed to replicate the reported association, finding instead that each putative schizophrenia-associated allele had a somewhat lower frequency in schizophrenics than in controls.	Case unrelated schizophrenics:Scottish;Control not specified in abstract										
131736	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Mizuno, T.  et al. 2002	12480758				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1	Japanese	Japan	CDC GDPinfo	4854	Hs.8546			Annals of the New York Academy of Sciences. 2002 Nov;977:252-7	Lack of association between NOTCH3 gene polymorphism and cerebrovascular disease in Japanese patients.		600276	12901	2	2002	Polymorphism of NOTCH3 at exons 3 and 4 was often observed in Japanese normal controls. However, no association was detected between the NOTCH3 polymorphism and sporadic stroke in Japanese patients	Case:111 sporadic stroke patients:Japan;Control:23 normal controls										
131737		cerebral arteriopathy; leukoencephalopathy	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Dementia, Multi-Infarct|Dementia	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Wang, T.  et al. 2000	11032621				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			CDC GDPinfo	4854	Hs.8546			Journal of neurology, neurosurgery, and psychiatry. 2000 Nov;69(5):652-4	Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients.		600276	18664	2	2000	a readily usable genetic test for CADASIL has been devised that was used to determine allele frequencies in well characterised cohorts of sporadic stroke and dementia patients.The data suggest that despite the clinical resemblance, CADASIL is not a common masquerading cause of stroke or dementia. The test will enable units locally to rapidly screen patients with suspected CADASIL.	Control:117 asymptomatic-age and sex matched;Case:70 patients with radiologically established sporadic ischaemic stroke and 77 patients from a specialist young dementia clinic										
131738		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Dementia, Multi-Infarct	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Dong, Y.  et al. 2003	12511775				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			CDC GDPinfo	4854	Hs.8546			Stroke; a journal of cerebral circulation. 2003 Jan;34(1):203-5	Yield of Screening for CADASIL Mutations in Lacunar Stroke and Leukoaraiosis		600276	18665	2	2003	 Notch3 mutations are rare in patients with typical strokes due to cerebral small-vessel disease. In the absence of classic features suggestive of CADASIL, screening for Notch3 mutations has a low yield.	Cohort 218 consecutive stroke patients 										
131732		alopecia and lumbar herniated disk	OTHER	OTH	Intervertebral Disk Displacement|Dementia, Multi-Infarct|Alopecia	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Yamada H et al. 2001	11481859				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			KGB	4854	Hs.8546			Rinsho Shinkeigaku. 2001 Feb-Mar;41(3-Feb):144-6	Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk		600276	4746	1	2001												
131733	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Dementia, Multi-Infarct	19	19p13.2-p13.1	NOTCH3	15131443	15172792	n	Broadley SA et al. 2001	11413271				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			KGB	4854	Hs.8546			Journal of neurology, neurosurgery, and psychiatry. 2001 Jul;71(1):97-9	No association between multiple sclerosis and the Notch3 gene responsible for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).		600276	4747	1	2001												
131734		subcortical infarcts and leukoencephalopathy	OTHER	OTH	Dementia, Multi-Infarct|Myocardial Infarction|Acute Disease	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Lesnik Oberstein SA 2003	12861102				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			KGB	4854	Hs.8546			Medicine. 2003 Jul;82(4):251-6	Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).		600276	4748	1	2003												
131729		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Liu, Y.  et al. 2005	15654505				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese	Japan	CDC GDPinfo	4843	Hs.462525			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		163730	28248	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
131730		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Watanabe, I.  et al. 2003	12732844				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese	Japan	CDC GDPinfo	4843	Hs.462525			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		163730	28624	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
131731	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident	19	19p13.2-p13.1	NOTCH3	15131443	15172792	n	Mizuno T et al. 2002	12480758				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1	Japanese	Japan	KGB	4854	Hs.8546			Annals of the New York Academy of Sciences. 2002 Nov;977:252-7	Lack of association between NOTCH3 gene polymorphism and cerebrovascular disease in Japanese patients.		600276	4745	1	2002	Polymorphism of NOTCH3 at exons 3 and 4 was often observed in Japanese normal controls. However, no association was detected between the NOTCH3 polymorphism and sporadic stroke in Japanese patients	Case:111 sporadic stroke patients:Japan;Control:23 normal controls										
131726		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Radha, V.  et al. 2002	12090088				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		163730	25361	2	2002	Review article											
131727		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Mombo, L. E.  et al. 2003	12641410				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Gabon	CDC GDPinfo	4843	Hs.462525			The American journal of tropical medicine and hygiene. 2003 Feb;68(2):186-90	Human genetic polymorphisms and asymptomatic Plasmodium falciparum malaria in Gabonese schoolchildren.		163730	25362	2	2003	We conclude that  G6PD A- heterozygous females are protected against all forms of P. falciparum malaria, and that the TNFalpha(-238A) allele confers protection against clinical malaria.	Cohort 158 Gabonese schoolchildren 										
131728		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Warpeha, K. M.  et al. 2003	12724690				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		163730	28096	2	2003	Review article											
131723		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Modin, H.  et al. 2001	11525805				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Journal of neuroimmunology. 2001 Sep;119(1):95-100	No linkage or association of the nitric oxide synthase genes to multiple sclerosis.		163730	23113	2	2001	no significant association or evidence was found for linkage in these data sets.	Control:148 controls not otherwise specified in abstract;Case:192 multiple sclerosis patients (96 "benign" and 96:"severe" )										
131724	N	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	17	17q11.2-q12	NOS2A	23107918	23151682		Sjostrand, C.  et al. 2002	12421162				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Cephalalgia. 2002 Nov;22(9):758-64	Analysis of nitric oxide synthase genes in cluster headache.		163730	23114	2	2002	We conclude that  it is unlikely that genetic variations within the NOS genes contribute greatly to cluster headache susceptibility.	Control:111 matched controls;Case:91 cluster headace patients										
131725		diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682			15856945				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Molekuliarnaia biologiia. 2005 Mar-Apr;39(2):224-9	[Polymorphic markers of the NO synthase genes and genetic predisposition to diabetic polyneuropathy in patients with type 1 diabetes mellitus]		163730	23115	2	2005	Only in the case of (CCTTT)n marker of NOS2 gene we have found a tendency for the association of 14 allele with DPN development. The carriers of this allele have the lower risk of DPN in T1DM.	Cohort 180 type 1 diabetes patients (T1DM) of Russian or Eastern Slavonic origin Moscow, Russia 										
131720		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682			16352737				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			The Journal of experimental medicine. 2005 Dec;202(12):1649-58	A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis		163730	23110	2	2005												
131721		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Bugeja, M. J.  et al. 2005	15856071				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Australian	Australia	CDC GDPinfo	4843	Hs.462525			European journal of human genetics. 2005 Jul;13(7):815-22	An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients.		163730	23111	2	2005	Nonetheless, despite the lack of significant evidence of association for the NOS2A promoter polymorphisms with MS, the gene remains an interesting candidate for MS susceptibility, particularly with regard to the HLA-DRB1(*)1501 haplotype.	Control:100:controls;Case:100 Australian multiple sclerosis patients										
131722	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Levecque, C.  et al. 2003	12490535				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Human molecular genetics. 2003 Jan;12(1):79-86	Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study.		163730	23112	2	2003	All together, these data favour an involvement of these two genes as new modifier genes in PD.	Case:209 Parkinson's disease patients:France;Control:488:controls	smoking (tobacco)									
131716	Y	malaria, plasmodium falciparum	INFECTION	INF	Malaria|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Cramer, J. P.  et al. 2004	15482399			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Ghana		CDC GDPinfo	4843	Hs.462525			Tropical medicine & international health. 2004 Oct;9(10):1074-80	iNOS promoter variants and severe malaria in Ghanaian children		163730	18589	2	2004	These findings suggest that iNOS promoter haplotypes rather than single nucleotide polymorphisms are associated with malaria in Ghanaian children.	Control healthy controls;Case Ghanaian children with severe malaria (SM) and asymptomatic parasitaemia:Ghana										
131717	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms	17	17q11.2-q12	NOS2A	23107918	23151682		Tatemichi, M.  et al. 2005	15617837			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese	Japan	CDC GDPinfo	4843	Hs.462525			Cancer letters. 2005 Jan;217(2):197-202	Increased risk of intestinal type of gastric adenocarcinoma in Japanese women associated with long forms of CCTTT pentanucleotide repeat in the inducible nitric oxide synthase promoter		163730	18590	2	2005	Our results imply that chronic inflammation caused by excess nitric oxide generated by iNOS contributes to Helicobacter pylori-induced gastric cancer.	Case:158 Japanese gastric cancer patients, including 96 intestinal type and 62 diffuse type;Control:181:controls										
131718		giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Gonzalez-Gay, M. A.  et al. 2005	16265698			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			The Journal of rheumatology. 2005 Nov;32(11):2178-82	Association of a functional inducible nitric oxide synthase promoter variant with susceptibility to biopsy-proven giant cell arteritis.		163730	18591	2	2005	 Our results suggest a potential implication for NOS2A TAAA gene polymorphism in GCA susceptibility.											
131713		infection	IMMUNE	IMM		17	17q11.2-q12	NOS2A	23107918	23151682		Burgner, D.  et al. 2003	14551604				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Genes and immunity. 2003 Oct;4(7):506-14	Haplotypic relationship between SNP and microsatellite markers at the NOS2A locus in two populations		163730	18586	2	2003	Understanding locus- and population-specific LD is essential when designing and interpreting genetic association studies.	Cohort Gambians and UK Caucasians Gambia and UK 										
131714	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Coronary Artery Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Kunnas, T. A.  et al. 2003	14636285				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			European journal of clinical investigation. 2003 Dec;33(12):1032-7	A functional variant of the iNOS gene flanking region is associated with LAD coronary artery disease: an autopsy study.		163730	18587	2	2003	 It appears unlikely the R4/5 genotype plays a major role in the pathogenesis of CAD, as it was not associated with stenosis and atherosclerosis in RCA and LCX. However this genotype may have some role in more pronounced CAD, as seen in the LAD.	Cohort 325 Finnish men included in the Helsinki Sudden Death Study 										
131715	N	hepatitis C, chronic	INFECTION	INF	Hepatitis C|Viremia|Disease Progression	17	17q11.2-q12	NOS2A	23107918	23151682		Yee, L. J.  et al. 2004	14985675				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Genes and immunity. 2004 May;5(3):183-7	Inducible nitric oxide synthase gene (NOS2A) haplotypes and the outcome of hepatitis C virus infection.		163730	18588	2	2004	Carriage of haplotype 1 was not associated with initial response (P=0.268) or sustained response (P>0.171). Combinations of haplotypes 1/4 were more likely to respond to interferon monotherapy in comparison of initial responders to nonresponders	Cohort 619 Caucasian hepatitis C infected patients from seven European liver centers 										
131710	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	17	17q11.2-q12	NOS2A	23107918	23151682		Pascual, M.  et al. 2002	12140750				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Genes and immunity. 2002 Aug;3(5):299-301	Genetic determinants of rheumatoid arthritis: theinducible nitric oxide synthase (NOS2) gene promoter polymorphism.		163730	18583	2	2002	After evaluating for the first time the influence of NOS2 promoter polymorphism in RA, it seems to have no major effect on disease susceptibility and/or outcome.	Case:152 Spanish rheumatoid arthritis patients:Spain;Control:199 healthy voluntary blood donors Granada area of Southern Spain										
131711		Malaria infection	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum	17	17q11.2-q12	NOS2A	23107918	23151682		Ohashi, J.  et al. 2002	12195390			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Thai	Thailand	CDC GDPinfo	4843	Hs.462525			The Journal of infectious diseases. 2002 Aug;186(4):578-81	Significant association of longer forms of CCTTT Microsatellite repeat in the inducible nitric oxide synthase promoter with severe malaria in Thailand.		163730	18584	2	2002	No variations were detected in the iNOS promoter region containing functional NF-kappaB elements at -5.2, -5.5, -5.8, and -6.1 kb upstream of the iNOS transcriptional start site. Thus, a CCTTT repeat in the iNOS promoter may play a key role in the pathogenesis of severe malaria.	Control:179 adult patients with mild malaria;Case:256 adulat patients with sever Plasmodium falciparum:malaria northwestern Thailand										
131712	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q11.2-q12	NOS2A	23107918	23151682		Blanco, Y.  et al. 2003	12736741				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Journal of neurology. 2003 May;250(5):598-600	No association of inducible nitric oxide synthase gene ( NOS2A) to multiple sclerosis.		163730	18585	2	2003	No association was found between MS susceptibility, course or outcome of the disease, and NOS2A polymorphisms.	Case:140 multiple sclerosis patients;Control:147 healthy controls matched for sex, age and ethnicity										
131707		Malaria infection	INFECTION	INF	Malaria	17	17q11.2-q12	NOS2A	23107918	23151682		Kun, J. F.  et al. 2001	11443559				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Gabon|Nigeria|Senegal|Thailand|Germany|Papua New Guinea	CDC GDPinfo	4843	Hs.462525			The Journal of infectious diseases. 2001 Aug;184(3):330-6	Nitric oxide synthase 2(Lambar????n????) (G-954C), increased nitric oxide production, and protection against malaria.		163730	18580	2	2001	the NOS2(Lambarene) polymorphism was found to be present with the highest frequency in Africa and at a lower frequency in Asia.	Cohort 200 children (151 wild-type vs. 49 NOS2(Lambarene) carriers) who were monitored for 4 years, to assess the rates of malarial attacks in the 2 groups 	Plasmodium falciparum									
131708	Y	nephropathy, diabetic; retinopathy, diabetic; neuropathy, diabetic; microalbuminuria, diabetic	METABOLIC	MET	Diabetic Retinopathy|Kidney Diseases|Albuminuria|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Morris, B. J.  et al. 2002	11907646			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Journal of molecular medicine (Berlin, Germany). 2002 Feb;80(2):96-104	Association of a functional inducible nitric oxide synthase promoter variant with complications in type 2 diabetes.		163730	18581	2	2002	Thus the '' allele of the NOS2A promoter variant may confer higher iNOS expression, and could contribute to complications of type 2 diabetes, especially in the approximately 5% of patients homozygous for this variant.	Cohort 379 Caucasian type 2 diabetic patients of British/European descent 										
131709	Y	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Kumaramanickavel, G.  et al. 2002	12081717				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Indian	India	CDC GDPinfo	4843	Hs.462525			Clinical genetics. 2002 May;61(5):344-8	Inducible nitric oxide synthase gene and diabetic retinopathy in Asian Indian patients.		163730	18582	2	2002	In the Asian Indian population, allele 210 bp of the iNOS gene is a high-risk allele for developing retinopathy and alleles 200 and 220 bp protect an individual from developing retinopathy or its complications.	Cohort 199 unrelated Asian Indian patients with 15 or more years of type 2 diabetes India 										
131704		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Angina Pectoris|Angina, Unstable	17	17q11.2-q12	NOS2A	23107918	23151682		Morris, B. J.  et al. 2001	11294696			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Clin Sci (Lond).. 2001 May;100(5):551-6	Influence of an inducible nitric oxide synthase promoter variant on clinical variables in patients with coronary artery disease.		163730	18577	2	2001	We found that 2% of CAD patients were homozygous for the + allele, and 19% were heterozygous. Males made up 74% of the patient group, and in these the + allele was associated with 38% higher plasma glucose levels, a 4.8% elevation in the waist/hip ratio and a 48% greater frequency of unstable angina . The + allele, by influencing iNOS expression, could thus contribute to indices of insulin resistance and angina severity in male CAD patients.	Cohort 856 coronary artery disease patients Anglo-Celtic/Northern European Extraction 										
131705	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	17	17q11.2-q12	NOS2A	23107918	23151682		Johannesen, J.  et al. 2001	11397889				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2792-6	Linkage of the human inducible nitric oxide synthase gene to type 1 diabetes.		163730	18578	2	2001	linkage of the human NOS2 gene to IDDM in a subset of patients supports a pathogenic role of nitric oxide in human IDDM.	Cohort 257 Danish families; 154 families were affected sibling pair families, and 103 families were simplex families 										
131706	N	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lea, R. A.  et al. 2001	11424980				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			American journal of medical genetics. 2001 Jan;105(1):110-3	No evidence for involvement of the human inducible nitric oxide synthase (iNOS) gene in susceptibility to typical migraine.		163730	18579	2	2001	These findings offer no evidence for an allelic association of the tested iNOS polymorphism with the common forms of the disease and therefore do not support a role for this gene in migraine pathogenesis.	Control:252 age- and sex-matched unaffected individuals;Case:261 magraine affected individuals										
131701	N	retinopathy, diabetic; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Rippin, J. D.  et al. 2003	12687343				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Caucasian		CDC GDPinfo	4843	Hs.462525			Diabetologia. 2003 Mar;46(3):426-8	Nitric oxide synthase gene polymorphisms and diabetic nephropathy.		163730	12795	2	2003	In our cohort of Caucasian subjects with Type 1 diabetes there is no association between either of the polymorphisms studied and diabetic nephropathy. The previous suggestion from smaller studies that the intron 4 polymorphism in NOS3 could play a role in susceptibility to the disease is not confirmed.	Case patients with Type 1 diabetes and overt nephropathy who had hypertension and diabetic retinopathy;Control Type 1 diabetic subjects who have been on insulin for 50 or more years and have an extremely low risk of nephropathy										
131702	N	kawasaki disease	IMMUNE	IMM	Coronary Disease|Mucocutaneous Lymph Node Syndrome	17	17q11.2-q12	NOS2A	23107918	23151682		Khajoee, V.  et al. 2003	12709136				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese	Japan	CDC GDPinfo	4843	Hs.462525			Pediatrics international. 2003 Apr;45(2):130-4	Inducible and endothelial constitutive nitric oxide synthase gene polymorphisms in Kawasaki disease.		163730	12799	2	2003	 These results did not support any association of ecNOS and iNOS gene polymorphisms to the development of CAL in KD patients in a Japanese population.	Cohort Japanese Kawasaki disease patients 										
131703	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Gonzalez-Gay, M. A.  et al. 2004	15226517				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish		CDC GDPinfo	4843	Hs.462525			Rheumatology (Oxford, England). 2004 Sep;43(9):1182-5	Inducible but not endothelial nitric oxide synthase polymorphism is associated with susceptibility to rheumatoid arthritis in northwest Spain		163730	12839	2	2004	 Significant differences in the iNOS promoter polymorphism genotype frequency between northwest Spanish RA patients and controls suggest a potential role for this polymorphism in susceptibility to RA.	Case:200 rheumatoid arthritis patients northwest Spain;Control:251 ethnically matched controls										
131698		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Fransen, K.  et al. 2005	15922861			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Cancer letters. 2005 Jul;225(1):99-103	Nitric oxide synthase 2 (NOS2) promoter polymorphisms in colorectal cancer.		163730	12726	2	2005	In conclusion, these results, therefore, suggest that NOS2 promoter polymorphisms have a limited effect on the onset or progression of CRC.	Control normal healthy controls;Case colorectal cancer patients										
131699	Y	purpura, Henoch-Schonlein	RENAL	REN	Nephritis|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Martin, J.  et al. 2005	15940772				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish	Spain	CDC GDPinfo	4843	Hs.462525			The Journal of rheumatology. 2005 Jun;32(6):1081-5	Inducible nitric oxide synthase polymorphism is associated with susceptibility to Henoch-Sch????nlein purpura in northwestern Spain.		163730	12727	2	2005	 Significant differences in the NOS2A promoter polymorphism allele and genotype frequency between HSP patients and controls suggest a potential role for this gene in the susceptibility to HSP and in the development of nephritis.											
131700	N	Alzheimer's disease; dementia	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Singleton, A. B.  et al. 2001	11297817				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Neuroscience letters. 2001 Apr;303(1):33-6	Nitric oxide synthase gene polymorphisms in Alzheimer's disease and dementia with Lewy bodies.		163730	12732	2	2001	We conclude that  NOS gene polymorphisms do not alter disease risk in the majority of late-onset dementia cases.	Control:106 age-matched, non-demented, no history of neuropsychiatric disease, showed age related neuropathology only upon examination:England;Case:158 Alzheimer's disease:England;Case:54 dementia with Lewy bodies:England										
131695	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Shen, J.  et al. 2004	15484300				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			World journal of gastroenterology. 2004 Nov;10(22):3278-83	A novel genetic polymorphism of inducible nitric oxide synthase is associated with an increased risk of gastric cancer		163730	12722	2	2004	 iNOS Ser(608)Leu allele may be a potential determinant of susceptibility to cigarette -alcohol induced gastric cancer, but larger studies are needed to confirm the observations.	Control:246 healthy controls;Case:93/50 patients with intestinal type gastric cancer (n=93) and with gastric cardia cancer (n=50):Yangzhong, China:1997 - 1998	alcohol smoking (tobacco)									
131696	Y	cirrhosis	OTHER	OTH	Hypertension, Portal|Genetic Predisposition to Disease|Fibrosis	17	17q11.2-q12	NOS2A	23107918	23151682		Cheng, Y.  et al. 2004	15583989	( -969(G>C)		promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Zhonghua yi xue yi chuan xue za zhi. 2004 Dec;21(6):591-5	[Polymorphism of NOS2A promoter -969(G>C) is associated with portal hypertension of liver cirrhosis.]		163730	12723	2	2004	 The polymorphism of NOS2A promoter -969(G>C) is associated with portal hypertension of liver cirrhosis, which results in functional activity increase of NOS2A promoter and is an independent risk factor for portal hypertension.	Case:106 patients with liver cirrhosis due to hepatitis B:virus;Control:108:controls										
131697	Y	malaria	INFECTION	INF	Malaria|Sickle Cell Trait|Glucosephosphate Dehydrogenase Deficiency	17	17q11.2-q12	NOS2A	23107918	23151682		Parikh, S.  et al. 2004	15642965				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Uganda	CDC GDPinfo	4843	Hs.462525			The American journal of tropical medicine and hygiene. 2004 Dec;71(6):750-3	Host polymorphisms and the incidence of malaria in Ugandan children.		163730	12724	2	2004	Heterozygotes for the iYOS promoter G954C polymorphism, but Yot other promoter polymorphisms, had a sigYificaYtly lower iYcideYce of malaria compared with wild-type childreY (IRR = 0.69, P = 0.05). Host polymorphisms appear to impact upoY the iYcideYce of uYcomplicated malaria iY UgaYdaY childreY.	Cohort 307 Ugandan children Uganda 										
131692	N	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Orozco, G.  et al. 2003	14623011			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Microbes and infection. 2003 Nov;5(13):1165-9	Inducible nitric oxide synthase promoter polymorphism in human brucellosis.		163730	12719	2	2003	We concluded that the NOS2 microsatellite polymorphism might not have a major effect on brucellosis; nevertheless, the fact that a non-significant trend towards protection was detected in the CCTTT(n) alleles may be an indication for a follow-up study.	Control:100 healthy individuals, matched for age and sex, living in the same geographic area;Case:85 patients with brucellosis										
131693		malaria, plasmodium falciparum	INFECTION	INF	Malaria|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Boutlis, C. S.  et al. 2003	14740870	CCTTT		promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Papua New Guinea	CDC GDPinfo	4843	Hs.462525			The American journal of tropical medicine and hygiene. 2003 Dec;69(6):569-73	Inducible nitric oxide synthase (NOS2) promoter CCTTT repeat polymorphism: relationship to in vivonitric oxide production/NOS activity in an asymptomatic malaria-endemic population.		163730	12720	2	2003	Neither the G-954C nor the C-1173T polymorphisms were identified in this population, indicating the variability and complexity of selection for NOS2 promoter polymorphisms in different malaria-endemic populations.	Cohort asymptomatic malaria-exposed coastal Papua New Guineans 1-60 years old 										
131694	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Tajouri, L.  et al. 2004	15275951				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Australia	CDC GDPinfo	4843	Hs.462525			Brain research bulletin. 2004 Jul;64(1):13-Sep	Investigation of an inducible nitric oxide synthase gene (NOS2A) polymorphism in a multiple sclerosis population		163730	12721	2	2004	This suggests that there is no direct association of this iNOS gene variant with MS susceptibility.	Case:101 multiple sclerosis patients;Control:101 age- and sex-matched healthy controls										
131689	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Shen, J.  et al. 2002	12482371				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Zhonghua liu xing bing xue za zhi. 2002 Oct;23(5):374-7	Study on the Relationship between susceptibility of stomach neoplasm cancer and polymorphism of inducible nitric oxide synthase gene.		163730	12716	2	2002	 C-->T polymorphism of iNOS gene was considered as one of the possible susceptible genes, which specifically increased the risk of tobacco-related but CagA negative types of intestinal stomach cancer and stomach cardia cancer.	Control:246:controls;Case:50 stomach cardia cancer patients										
131690		lupus erythematosus	OTHER	OTH	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Oates, J. C.  et al. 2003	12508391			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	African American		CDC GDPinfo	4843	Hs.462525			The Journal of rheumatology. 2003 Jan;30(1):60-7	Nitric oxide synthase 2 promoter polymorphisms and systemic lupus erythematosus in african-americans.		163730	12717	2	2003	 Altered genetic control of NOS2 transcription may be a risk factor for SLE among African-American females. The extent of linkage disequilibrium between the G-954C and CCTTT-8 repeat NOS2 promoter polymorphisms suggests that they were co-inherited.	Case patients with systemic lupus erythematosus North and South Carolina;Control age, sex and race matched controls										
131691	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lopez-Nevot, M. A.  et al. 2002	12509623			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Rheumatology (Oxford, England). 2003 Jan;42(1):113-6	The inducible nitric oxide synthase promoter polymorphism does not confer susceptibility to systemic lupus erythematosus.		163730	12718	2	2002	 We conclude that polymorphism in the NOS2 gene promoter does not play a relevant role in the pathogenesis of SLE in our population.	Case:117 systemic lupus erythematosus patients;Control:199 healthy controls										
131686		asthma; atopy	IMMUNE	IMM		17	17q11.2-q12	NOS2A	23107918	23151682		Lu, X.  et al. 2002	11985259				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Chinese		CDC GDPinfo	4843	Hs.462525			Yi chuan xue bao. 2002 Apr;29(4):290-3	[A short tandem repeat polymorphism in the inducible nitric oxide synthase gene in Chinese population]		163730	12713	2	2002	Some of the observed allele frequency of this STR locus in Chinese differed significantly from that of Caucasians in England.	Cohort 316 Chinese healthy subjects 										
131687	N	Trypanosoma cruzi infection	INFECTION	INF	Chagas Disease|Disease Susceptibility	17	17q11.2-q12	NOS2A	23107918	23151682		Calzada, J. E.  et al. 2002	12135432			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Peru	CDC GDPinfo	4843	Hs.462525			Tissue antigens. 2002 Apr;59(4):316-9	No evidence for association of the inducible nitric oxide synthase promoter polymorphism with Trypanosoma cruzi infection.		163730	12714	2	2002	Our data suggest that the NOS2 promoter pentanucleotide microsatellite polymorphisms analyzed do not play a major role in the pathogenesis of chronic T. cruzi infection in this Peruvian sample.	Case:76 serologically positive chagasic individuals;Control:78 healthy controls										
131688	Y	malaria	OTHER	OTH	Malaria, Cerebral|Parasitemia|Malaria, Falciparum|Anemia	17	17q11.2-q12	NOS2A	23107918	23151682		Hobbs, M. R.  et al. 2002	12433515			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Kenya|Tanzania	CDC GDPinfo	4843	Hs.462525			Lancet. 2002 Nov;360(9344):1468-75	A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children		163730	12715	2	2002	The NOS2 promoter -1173 C-->T single nucleotide polymorphism is associated with protection against cerebral malaria and severe malarial anaemia. Increased NO production in individuals with the -1173 C-->T polymorphism lends support to a protective role for NO against these syndromes. Targeted interventions to increase NO delivery or production could provide novel preventive and therapeutic strategies against these major causes of mortality in African children.	Case:138/1106 tanzanian children with malaria (N=138) and Kenyan:children (n=1106);Control:47 Tanzanian healthy children										
131683	N	Chagas Disease	INFECTION	INF	Chagas Disease|Disease Susceptibility	17	17q11.2-q12	NOS2A	23107918	23151682		Calzada JE 2002	12135432			5'promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Peruvian	Peru	Javier Martin	4843	Hs.462525	Trypanosoma cruzi infection		Tissue antigens. 2002 Apr;59(4):316-9	No evidence for association of the inducible nitric oxide synthase promoter polymorphism with Trypanosoma cruzi infection		163730	4734	1	2002	Our data suggest that the NOS2 promoter pentanucleotide microsatellite polymorphisms analyzed do not play a major role in the pathogenesis of chronic T. cruzi infection in this Peruvian sample.	Case:76 serologically positive chagasic individuals;Control:78 healthy controls										
131684	Y	increased nitric oxide production and protection from malaria	OTHER	OTH	Malaria, Cerebral|Parasitemia|Malaria, Falciparum|Anemia	17	17q11.2-q12	NOS2	23127863	23128232		Hobbs MR et al. 2002	12433515			promoter	nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625		Kenya|Tanzania	KGB	4843	Hs.462525			Lancet. 2002 Nov;360(9344):1468-75	A new NOS2 promoter polymorphism associated with increased nitric oxide production and protection from severe malaria in Tanzanian and Kenyan children.		163730	4735	1	2002												
131685	Y	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Konno, S.  et al. 2001	11692109			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			The Journal of allergy and clinical immunology. 2001 Nov;108(5):810-4	(CCTTT)n repeat polymorphism in the NOS2 gene promoter is associated with atopy		163730	12712	2	2001	 Our findings suggest that the (CCTTT)(n) repeat polymorphism in the promoter of the NOS2 gene that affects promoter activity is a risk factor for the development of atopy, and this genetic effect seems independent of asthma.	Control:102 atopic healthy controls;Control:141 nonatopic healthy controls;Case:198 atopic asthmatic subjects;Case:56 nonatopic asthmatic subjects										
131680	N	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Orozco G et al.2003	14623011			5'promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish		Javier Martin	4843	Hs.462525			Microbes and infection. 2003 Nov;5(13):1165-9	Inducible nitric oxide synthase promoter polymorphism in human brucellosis		163730	4731	1	2003	We concluded that the NOS2 microsatellite polymorphism might not have a major effect on brucellosis; nevertheless, the fact that a non-significant trend towards protection was detected in the CCTTT(n) alleles may be an indication for a follow-up study.	Control:100 healthy individuals, matched for age and sex, living in the same geographic area;Case:85 patients with brucellosis										
131681		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Gonzalez-Gay MA, et al.2004	15226517				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish		Javier Martin	4843	Hs.462525			Rheumatology (Oxford, England). 2004 Sep;43(9):1182-5	Inducible but not endothelial nitric oxide synthase polymorphism is associated with susceptibility to rheumatoid arthritis in northwest Spain		163730	4732	1	2004	 Significant differences in the iNOS promoter polymorphism genotype frequency between northwest Spanish RA patients and controls suggest a potential role for this polymorphism in susceptibility to RA.	Case:200 rheumatoid arthritis patients northwest Spain;Control:251 ethnically matched controls										
131682	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	17	17q11.2-q12	NOS2A	23107918	23151682		pascual M, et al 2004	12140750			5'promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish		Javier Martin	4843	Hs.462525			Genes and immunity. 2002 Aug;3(5):299-301	Genetic determinants of rheumatoid arthritis: the inducible nitric oxide synthase (NOS2) gene promoter polymorphism		163730	4733	1	2004	After evaluating for the first time the influence of NOS2 promoter polymorphism in RA, it seems to have no major effect on disease susceptibility and/or outcome.	Case:152 Spanish rheumatoid arthritis patients:Spain;Control:199 healthy voluntary blood donors Granada area of Southern Spain										
131677	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lopez-Nevot MA 2003	12509623				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			Y Wang	4843	Hs.462525			Rheumatology (Oxford, England). 2003 Jan;42(1):113-6	The inducible nitric oxide synthase promoter polymorphism does not confer susceptibility to systemic lupus erythematosus.		163730	4728	1	2003	 We conclude that polymorphism in the NOS2 gene promoter does not play a relevant role in the pathogenesis of SLE in our population.	Case:117 systemic lupus erythematosus patients;Control:199 healthy controls										
131678		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682		Rippin JD 2003	12687343				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			Y Wang	4843	Hs.462525	Complications		Diabetologia. 2003 Mar;46(3):426-8	Nitric oxide synthase gene polymorphisms and diabetic nephropathy.		163730	4729	1	2003	In our cohort of Caucasian subjects with Type 1 diabetes there is no association between either of the polymorphisms studied and diabetic nephropathy. The previous suggestion from smaller studies that the intron 4 polymorphism in NOS3 could play a role in susceptibility to the disease is not confirmed.	Case patients with Type 1 diabetes and overt nephropathy who had hypertension and diabetic retinopathy;Control Type 1 diabetic subjects who have been on insulin for 50 or more years and have an extremely low risk of nephropathy										
131679	Y	Type 2 Diabetes (Retinopathy)	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682	0.04	Kumaramanickavel G 2002	12081717	Allele 210bp	Not done	5'promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Asian Indian population	India	Y Wang	4843	Hs.462525	diabetic retinopathy		Clinical genetics. 2002 May;61(5):344-8	Inducible nitric oxide synthase gene and diabetic retinopathy in Asian Indian patients.		163730	4730	1	2002	In the Asian Indian population, allele 210 bp of the iNOS gene is a high-risk allele for developing retinopathy and alleles 200 and 220 bp protect an individual from developing retinopathy or its complications.	Cohort 199 unrelated Asian Indian patients with 15 or more years of type 2 diabetes India										
131674	Y	Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	P<0.01	Konno S 2001	11692109	(CCTTT)n repeat promoter polymorphism			Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			KGB	4843	Hs.462525			The Journal of allergy and clinical immunology. 2001 Nov;108(5):810-4	(CCTTT)n repeat polymorphism in the NOS2 gene promoter is associated with atopy		163730	4725	1	2001	 Our findings suggest that the (CCTTT)(n) repeat polymorphism in the promoter of the NOS2 gene that affects promoter activity is a risk factor for the development of atopy, and this genetic effect seems independent of asthma.	Control:102 atopic healthy controls;Control:141 nonatopic healthy controls;Case:198 atopic asthmatic subjects;Case:56 nonatopic asthmatic subjects										
131675	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Kidney Diseases|Albuminuria|Diabetes Mellitus, Type 2	17	17q11.2-q12	NOS2A	23107918	23151682	?	Morris BJ 2002	11907646				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Caucasian of British/European descent		KGB	4843	Hs.462525			Journal of molecular medicine (Berlin, Germany). 2002 Feb;80(2):96-104	Association of a functional inducible nitric oxide synthase promoter variant with complications in type 2 diabetes.		163730	4726	1	2002	Thus the '' allele of the NOS2A promoter variant may confer higher iNOS expression, and could contribute to complications of type 2 diabetes, especially in the approximately 5% of patients homozygous for this variant.	Cohort 379 Caucasian type 2 diabetic patients of British/European descent										
131676		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	17	17q11.2-q12	NOS2A	23107918	23151682		Johannesen J 2004	11196682				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Danish	Denmark	Y Wang	4843	Hs.462525			Genes and immunity. 2000 Aug;1(6):362-6	No evidence for linkage in the promoter region of the inducible nitric oxide synthase gene (NOS2) in a Danish type 1 diabetes population		163730	4727	1	2004												
131670	N	Malaria susceptibility	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum	17	17q11.2-q12	NOS2A	23107918	23151682	n	Levesque MC 1999	10558957	G-954C in the inducible NOS promoter polymorphism		5`promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		Tanzania	KGB	4843	Hs.462525			The Journal of infectious diseases. 1999 Dec;180(6):1994-2002	Nitric oxide synthase type 2 promoter polymorphisms, nitric oxide production, and disease severity in Tanzanian children with malaria.		163730	4721	1	1999												
131671	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	0.01	Levecque C 2003	12490535	T allele			Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	subjects enrolled in the Mutualite Sociale Agricole		KEW	4843	Hs.462525			Human molecular genetics. 2003 Jan;12(1):79-86	Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study.		163730	4722	1	2003	All together, these data favour an involvement of these two genes as new modifier genes in PD.	Case:209 Parkinson's disease patients:France;Control:488:controls	smoking (tobacco)									
131672	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	?	Rutherford S 2001	11702222				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			KGB	4843	Hs.462525			Human genetics. 2001 Oct;109(4):408-15			163730	4723	1	2001												
131666		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Iwai, N.  et al. 2004	15167446				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Japanese	Japan	CDC GDPinfo	4842	Hs.253420			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		163731	28351	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
131667	Y	Systemic lupus erythematosus	OTHER	OTH	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	0.03	Oates JC 2003	12508391			other	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	from North and South Carolinas		KEW	4843	Hs.462525			The Journal of rheumatology. 2003 Jan;30(1):60-7	Nitric oxide synthase 2 promoter polymorphisms and systemic lupus erythematosus in african-americans.		163730	4718	1	2003	 Altered genetic control of NOS2 transcription may be a risk factor for SLE among African-American females. The extent of linkage disequilibrium between the G-954C and CCTTT-8 repeat NOS2 promoter polymorphisms suggests that they were co-inherited.	Case patients with systemic lupus erythematosus North and South Carolina;Control age, sex and race matched controls										
131668	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	p= <0.01	Konno S 2001	11692109	increased 14 repeat (CTTT)n in the NOS 2 promoter in non-atopics		5`promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			KCB	4843	Hs.462525			The Journal of allergy and clinical immunology. 2001 Nov;108(5):810-4	(CCTTT)n repeat polymorphism in the NOS2 gene promoter is associated with atopy		163730	4719	1	2001	 Our findings suggest that the (CCTTT)(n) repeat polymorphism in the promoter of the NOS2 gene that affects promoter activity is a risk factor for the development of atopy, and this genetic effect seems independent of asthma.	Control:102 atopic healthy controls;Control:141 nonatopic healthy controls;Case:198 atopic asthmatic subjects;Case:56 nonatopic asthmatic subjects										
131663		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Nohara, H.  et al. 2002	12572877				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Japanese	Japan	CDC GDPinfo	4842	Hs.253420			Journal of gastroenterology. 2002 Nov;37 Suppl 14:107-10	Polymorphisms of the IL-1beta and IL-1beta-inducible genes in ulcerative colitis.		163731	26471	2	2002	 No association of the IL-1beta and three IL-1beta-inducible gene polymorphisms with UC was observed in a Japanese population.	Control:106 ethnically matched controls;Case:96 Japanese patients with ulcerative colitis										
131664	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Styczynska, M.  et al. 2003	12782337				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Polish	Poland	CDC GDPinfo	4842	Hs.253420			Neuroscience letters. 2003 Jun;344(2):99-102	Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.		163731	27141	2	2003	Our results suggest that the APOE epsilon 4 allele is the only known genetic risk factor for late-onset, sporadic AD.	Case:100 cases of late-onset Alzheimer's disease;Control:100 healthy controls										
131665		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965			16380905				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		163731	28095	2	2005												
131660		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Modin, H.  et al. 2001	11525805				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Journal of neuroimmunology. 2001 Sep;119(1):95-100	No linkage or association of the nitric oxide synthase genes to multiple sclerosis.		163731	18593	2	2001	no significant association or evidence was found for linkage in these data sets.	Control:148 controls not otherwise specified in abstract;Case:192 multiple sclerosis patients (96 "benign" and 96:"severe" )										
131661	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Texereau, J.  et al. 2004	14760158				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Thorax. 2004 Feb;59(2):156-8	Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis.		163731	23108	2	2004	 These data suggest a possible link between the NOS1 gene locus and the rate of decline in lung function in patients with CF.	Case:59 patients with cystic fibrosis;Control:59 healthy controls										
131662		smoking behavior	CHEMDEPENDENCY	CHEM	Parkinson Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Scott, W. K.  et al. 2005	15699372				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Neurology. 2005 Feb;64(3):442-7	Family-based case-control study of cigarette smoking and Parkinson disease.		163731	23109	2	2005	 Consistent with previous studies, individuals with Parkinson disease are significantly less likely to have smoked regularly than their unaffected siblings. This association was detected even though discordant sibling pairs are more likely to be overmatched for environmental exposures than unmatched case and control groups.	Case:143 individuals with Parkinson's disease;Control:168 sibling controls	Parkinson									
131656		nitric oxide	METABOLIC	MET		12	12q24.2-q24.31	NOS1	116135361	116283965		Grasemann, H.  et al. 2003	12531780				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			American journal of respiratory and critical care medicine. 2003 Apr;167(8):1113-6	Effects of sex and of gene variants in constitutive nitric oxide synthases on exhaled nitric oxide.		163731	18572	2	2003	These data suggest that variants in the neuronal nitric oxide synthase gene contribute to the variability of airway nitric oxide concentrations in healthy females.	Cohort 105 healthy non-smoking and smoking subjects 										
131658		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Griffiths, L. R.  et al. 2005	16191396				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Cellular and molecular biology (Noisy-le-Grand, France). 2005 Sep;51(3):285-92	A population genomics overview of the neuronal nitric oxide synthase (nNOS) gene and its relationship to migraine susceptibility.		163731	18575	2	2005												
131659	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965			16389274				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Molecular psychiatry. 2006	A neuronal nitric oxide synthase (NOS-I) haplotype associated with schizophrenia modifies prefrontal cortex function		163731	18576	2	2006												
131653	Y	nitric oxide, exhaled	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Wechsler, M. E.  et al. 2000	11112111				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7	Exhaled nitric oxide in patients with asthma:association with NOS1 genotype.		163731	18569	2	2000	These data provide a biologically tenable link between genotype at a candidate gene in a region of linkage, NOS1, and an important component of the asthmatic phenotype, FENO. We show that addition of NOS1 genotype to the case definition of asthma allows the identification of a uniform cohort of patients, with respect to FENO, that would have been indistinguishable by other physiologic criteria. Our isolation of this homogeneous cohort of patients ties together the well-established associations among asthma, increased concentrations of NO in the exhaled air of asthmatic individuals, and variations of trinucleotide repeat sequences as identified in several neurologic conditions.	Cohort patients with asthma 										
131654	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965		Shinkai, T.  et al. 2002	12140778				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Molecular psychiatry. 2002 ;7(6):560-3	Allelic association of the neuronal nitric oxide synthase (NOS1) gene with schizophrenia.		163731	18570	2	2002	Our results suggest that the NOS1 gene polymorphism may confer increased susceptibility to schizophrenia.	Control:182 healthy controls;Case:215 Japanese patients with schizophrenia										
131655	N	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	12	12q24.2-q24.31	NOS1	116135361	116283965		Sjostrand, C.  et al. 2002	12421162				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Cephalalgia. 2002 Nov;22(9):758-64	Analysis of nitric oxide synthase genes in cluster headache.		163731	18571	2	2002	We conclude that  it is unlikely that genetic variations within the NOS genes contribute greatly to cluster headache susceptibility.	Control:111 matched controls;Case:91 cluster headace patients										
131650	Y	atopy	IMMUNE	IMM	Hypersensitivity	12	12q24.2-q24.31	NOS1	116135361	116283965		Holla, L. I.  et al. 2004	15080837				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	European	Czech Republic	CDC GDPinfo	4842	Hs.253420			Allergy. 2004 May;59(5):548-52	Neuronal nitric oxide synthase gene polymorphism and IgE-mediated allergy in the Central European population.		163731	12709	2	2004	 Our findings suggest that NOS1 gene may participate in the pathogenesis of high total serum IgE levels in allergic diseases in our population. These findings provide support for NOS1 as a candidate gene for IgE-mediated allergy.	Control:320 unrelated controls with negative familial history of asthma/atopy;Case:368 patients with clinically manifested allergic:diseases										
131651	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965		Wang, Y. C.  et al. 2004	15088155				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Chinese	China	CDC GDPinfo	4842	Hs.253420			J Neural Transm. 2004 May;111(5):623-9	Association analysis of a neural nitric oxide synthase gene polymorphism and antipsychotics-induced tardive dyskinesia in Chinese schizophrenic patients.		163731	12710	2	2004	We concluded that the NOS1 3'-UTR C276T polymorphism might not play a major role in the susceptibility of TD development, or on the severity of TD.	Cohort 251 Chinese schizophrneic patients with long-term 										
131652		asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Leung, T. F.  et al. 2005	16238787				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Chinese		CDC GDPinfo	4842	Hs.253420			Clinical and experimental allergy. 2005 Oct;35(10):1288-94	Nitric oxide synthase polymorphisms and asthma phenotypes in Chinese children.		163731	12711	2	2005	 NOS1 C5266T and AAT repeats affect plasma IgE concentrations in Chinese children. On the other hand, neither NOS1 nor NOS3 SNP was associated with FeNO or the risk of having asthma.											
131647	Y	atopy	IMMUNE	IMM	Respiratory Hypersensitivity|Hypersensitivity, Immediate|Respiratory Hypersensitivity	12	12q24.2-q24.31	NOS1	116135361	116283965		Ali, M.  et al. 2003	12911502				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo; update from M. Ali 	4842	Hs.253420			Pediatric allergy and immunology. 2003 Aug;14(4):2	NOS1 polymorphism is associated with atopy but not exhaled nitric oxide levels in healthy children.		163731	12706	2	2003	This suggests that variations in the NOS1 gene may contribute to atopy without this relationship being reflected by FENO.	Cohort 87 healthy children (44 girls, 42 atopic, age range 6-18 years) 										
131648	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Tajouri, L.  et al. 2004	14759629				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Journal of the neurological sciences. 2004 Mar;218(2-Jan):25-8	Investigation of a neuronal nitric oxide synthase gene (NOS1) polymorphism in a multiple sclerosis population.		163731	12707	2	2004	Statistical analysis indicated that there is no association of this nNOS variant and MS and hence the gene does not appear to play a genetically significant role in disease susceptibility.	Case Caucasian Australian population affected with MS;Control unaffected control population, matched for gender, age and ethnicity										
131649	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965		Shinkai, T.  et al. 2004	15075442				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Neuromolecular medicine. 2004 ;5(2):163-70	Genetic association analysis of neuronal nitric oxide synthase gene polymorphism with tardive dyskinesia		163731	12708	2	2004	These results suggest that the NOS1 gene polymorphism may not confer increased susceptibility to TD, although more investigations on other populations are warranted.	Cohort 171 Japanese patients with schizophrenia, including 41 patients meeting TD criteria 	neuroleptic response									
131644	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Liou, Y. J.  et al. 2002	12210288				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			American journal of medical genetics. 2002 Aug;114(6):687-8	No association between the neuronal nitric oxide synthase gene polymorphism and Alzheimer Disease.		163731	12702	2	2002	No association was demonstrated for AD and this particular nNOS polymorphism.	Control:101 control subjects;Case:139 Alzheimer disease patients										
131645	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Levecque, C.  et al. 2003	12490535				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Human molecular genetics. 2003 Jan;12(1):79-86	Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study.		163731	12703	2	2003	All together, these data favour an involvement of these two genes as new modifier genes in PD.	Case:209 Parkinson's disease patients:France;Control:488:controls	smoking (tobacco)									
131646	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	12	12q24.2-q24.31	NOS1	116135361	116283965		Yu, Y. W.  et al. 2003	12759556				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Neuropsychobiology. 2003 ;47(3):137-40	Association analysis for neuronal nitric oxide synthase gene polymorphism with major depression and fluoxetine response		163731	12705	2	2003	Our findings suggest that this nNOS C276T polymorphism does not play a major role in the susceptibility to, or fluoxetine response in, MDD. However, the association between other NOS variants and MDD or antidepressant response, including sexual dysfunction, may warrant further investigation.	Control healthy controls;Case:114 major depressive disorder patients	fluoxetine									
131641	Y	infantile hypertrophic pyloric stenosis.	OTHER	OTH	Pyloric Stenosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Saur D 2004	14757827	-84G A	alteration of transcription factor binding and promoter activity	5' promoter	Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	white		KGB	4842	Hs.253420	pyloric hypertrophy and stenosis		Proceedings of the National Academy of Sciences of	Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis.		163731	4716	1	2004												
131642	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Tajouri L 2004	14759629				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Australian		KGB	4842	Hs.253420			Journal of the neurological sciences. 2004 Mar;218(2-Jan):25-8	Investigation of a neuronal nitric oxide synthase gene (NOS1) polymorphism in a multiple sclerosis population.		163731	4717	1	2004	Statistical analysis indicated that there is no association of this nNOS variant and MS and hence the gene does not appear to play a genetically significant role in disease susceptibility.	Case Caucasian Australian population affected with MS;Control unaffected control population, matched for gender, age and ethnicity										
131643	Y	nitric oxide	OTHER	OTH	Pseudomonas Infections|Cystic Fibrosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Grasemann, H.  et al. 2002	11890749				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Nitric oxide. 2002 Mar;6(2):236-41	Nasal nitric oxide levels in cystic fibrosis patients are associated with a neuronal NO synthase (NOS1) gene polymorphism.		163731	12701	2	2002	We conclude that  (1) the variability in CF nasal NO levels are related to naturally occurring variants in the NOS1 gene, and (2) that nasal NOS1-derived NO affects the susceptibility of CF airways to infection with P. aeruginosa.	Cohort 40 clinically stable cystic fibrosis patients 	P. aeruginosa									
131636	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.01	Levecque C 2003	12490535				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	subjects enrolled in the Mutualite Sociale Agricole		KEW	4842	Hs.253420			Human molecular genetics. 2003 Jan;12(1):79-86	Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case-control study.		163731	4711	1	2003	All together, these data favour an involvement of these two genes as new modifier genes in PD.	Case:209 Parkinson's disease patients:France;Control:488:controls	smoking (tobacco)									
131637	Y	EO	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.0086	Immervoll T 2001	11668616	C3391T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	German. Swedish		KGB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4712	1	2001												
131638	Y	tIgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.022	Immervoll T 2001	11668616	C5266T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	German. Swedish		KGB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4713	1	2001												
131639	Y	tIgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.022	Immervoll 2001	11668616	C5266T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4714	1	2001												
131632		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12q24.2-q24.31	NOS1	116135361	116283965		Takahashi Y et al. 1997	9298742				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1		Japan	KGB	4842	Hs.253420			Clinical genetics. 1997 Aug;52(2):83-5	Association analysis of TG repeat polymorphism of the neuronal nitric oxide synthase gene with essential hypertension.		163731	4707	1	1997												
131633	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q24.2-q24.31	NOS1	116135361	116283965		Shinkai T et al. 2002	12140778				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Molecular psychiatry. 2002 ;7(6):560-3	Allelic association of the neuronal nitric oxide synthase (NOS1) gene with schizophrenia.		163731	4708	1	2002	Our results suggest that the NOS1 gene polymorphism may confer increased susceptibility to schizophrenia.	Control:182 healthy controls;Case:215 Japanese patients with schizophrenia										
131634	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	n	Liou YJ et al. 2002	12210288				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			American journal of medical genetics. 2002 Aug;114(6):687-8	No association between the neuronal nitric oxide synthase gene polymorphism and Alzheimer Disease.		163731	4709	1	2002	No association was demonstrated for AD and this particular nNOS polymorphism.	Control:101 control subjects;Case:139 Alzheimer disease patients										
131635	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Lo HS 2002	11809160			5`promoter	Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Chinese	Taiwan	KGB	4842	Hs.253420			Journal of the neurological sciences. 2002 Feb;194(1):3-Nov			163731	4710	1	2002												
131629	Y	neuronal NO synthase (NOS1) gene polymorphism	OTHER	OTH	Pseudomonas Infections|Cystic Fibrosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Grasemann H et al. 2002	11890749				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Nitric oxide. 2002 Mar;6(2):236-41	Nasal nitric oxide levels in cystic fibrosis patients are associated with a neuronal NO synthase (NOS1) gene polymorphism.		163731	4704	1	2002	We conclude that  (1) the variability in CF nasal NO levels are related to naturally occurring variants in the NOS1 gene, and (2) that nasal NOS1-derived NO affects the susceptibility of CF airways to infection with P. aeruginosa.	Cohort 40 clinically stable cystic fibrosis patients	P. aeruginosa									
131630	N	major depression	PSYCH	PSY	Depressive Disorder, Major	12	12q24.2-q24.31	NOS1	116135361	116283965		Yu YW et al. 2003	12759556				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Neuropsychobiology. 2003 ;47(3):137-40	Association analysis for neuronal nitric oxide synthase gene polymorphism with major depression and fluoxetine response.		163731	4705	1	2003	Our findings suggest that this nNOS C276T polymorphism does not play a major role in the susceptibility to, or fluoxetine response in, MDD. However, the association between other NOS variants and MDD or antidepressant response, including sexual dysfunction, may warrant further investigation.	Control healthy controls;Case:114 major depressive disorder patients	fluoxetine									
131631	Y	asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Wechsler ME et al. 2000	11112111				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7	Exhaled nitric oxide in patients with asthma: association with NOS1 genotype.		163731	4706	1	2000	These data provide a biologically tenable link between genotype at a candidate gene in a region of linkage, NOS1, and an important component of the asthmatic phenotype, FENO. We show that addition of NOS1 genotype to the case definition of asthma allows the identification of a uniform cohort of patients, with respect to FENO, that would have been indistinguishable by other physiologic criteria. Our isolation of this homogeneous cohort of patients ties together the well-established associations among asthma, increased concentrations of NO in the exhaled air of asthmatic individuals, and variations of trinucleotide repeat sequences as identified in several neurologic conditions.	Cohort patients with asthma										
131625		Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Wechsler ME 2000	11112111	(AAT)n>/=12			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KCB	4842	Hs.253420			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7			163731	4700	1	2000												
131626	Y	Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965	P=<0.05	Grasemann H 2000	10833424	CA repeat (allele 17 & 18) polymorphism in exon 29			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1		United States	KCB	4842	Hs.253420			Biochemical and biophysical research communications. 2000 Jun;272(2):391-4			163731	4701	1	2000												
131627	Y	Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965	P=<0.05	Grasemann H 2000	10833424	CA repeat (allele 17 & 18) polymorphism in exon 29			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	U.S. Caucasians	United States	KCB	4842	Hs.253420			Biochemical and biophysical research communications. 2000 Jun;272(2):391-4			163731	4702	1	2000												
131628	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	n	Ober C 2000	11022011	(AAT)n			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Hutterites	South Dakota	KCB	4842	Hs.253420			American journal of human genetics. 2000 Nov;67(5):1154-62			163731	4703	1	2000												
131620	Y	Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.008	Gao P 2000	10673365	Intragenic (intron 2) microsatellite			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	U.K. Caucasians	Great Britain	KCB	4842	Hs.253420			Biochemical and biophysical research communications. 2000 Jan;267(3):761-3			163731	4695	1	2000												
131621	N	NO exhalation	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965	n	Wechsler ME 2000	11112111	(AAT)n			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Mixed		KGB	4842	Hs.253420			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7			163731	4696	1	2000												
131622	N	Asthma. DRS. total IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	n	Immervoll T 2001	11668616	C3391T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	German. Swedish		KCB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4697	1	2001												
131624	Y	EO	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.0086	Immervoll 2001	11668616	C3391T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4699	1	2001												
131616		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	15	15q14-q15	NOLA3	32421208	32422654		Yamaguchi, H.  et al. 2005	15814878				Nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018648.3			CDC GDPinfo	55505	Hs.14317			The New England journal of medicine. 2005 Apr;352(14):1413-24	Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.		606471	25360	2	2005	 Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.	Case:124/81 patients with apparent acquired aplastic anemia with an additional number examined for genetic variations in TERT (n=81);Control:282/246 control subjects and an additional number examined for genetic variations in TERT (n=246)										
131617	Y	sickle cell disease	OTHER	OTH	Lung Diseases|Anemia, Sickle Cell|Syndrome|Acute Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Sullivan KJ 2001	11751185				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420	Acute Chest Syndrome		American journal of respiratory and critical care medicine. 2001 Dec;164(12):2186-90			163731	4692	1	2001	We conclude that  FE(NO) levels are significantly reduced in subjects who have a history of ACS and that the FE(NO) levels are significantly correlated with the number of NOS I AAT repeats. FE(NO) is a sensitive marker and may be a predictor of ACS prone children.											
131619	N	Asthma. DRS. eosinophilia	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965	n	Immervoll T 2001	11668616	C5266T			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	German. Swedish		KCB	4842	Hs.253420			Human mutation. 2001 Oct;18(4):327-36			163731	4694	1	2001												
131612	Y	autism	PSYCH	PSY	Autistic Disorder	X	Xp22.32-p22.31	NLGN4	5818082	6079812		Gauthier, J.  et al. 2004	15389766				Neuroligin 4, X-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020742			CDC GDPinfo	57502	Hs.21107			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):74-5	NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.		300427	23105	2	2004	These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.	Cohort 96 individuals affected with autism 										
131614	Y	obesity	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity|Body Weight|Thinness	15	15q22-qter	NMB	82999363	83002806		Oeffner, F.  et al. 2000	11194934				Neuromedin B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021077.3	German		CDC GDPinfo	4828	Hs.386470			Acta diabetologica. 2000 ;37(2):93-101	Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents		162340	12698	2	2000	These results suggest a contribution of NMB or a gene in its close vicinity to genetic weight control in humans.	Case:92 extremely obese patients;Control:94 underweight students										
131615		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	17	17q21-q22	NOG	52026273	52027544		Felder, B.  et al. 2002	12404109				Noggin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005450.2			CDC GDPinfo	9241	Hs.248201			European journal of human genetics. 2002 Nov;10(11):753-6	Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs).		602991	23106	2	2002	The frequency of the heterozygous 455TC genotype is lower in cases than in controls (nominal P=0.017), although allele frequencies are similar in both groups. A possible explanation for this finding might be that BMP4 455TC heterozygosity at this site is a protective factor in the normal population, although this hypothesis cannot be proven to date.	Case spina bifida aperta patients;Control:controls										
131608	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p21	NKX3-1	23592172	23596395		Gelmann, E. P.  et al. 2002	11980664	C154T			NK3 transcription factor related, locus 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006167.2			CDC GDPinfo	4824	Hs.55999			Cancer research. 2002 May;62(9):2654-9	Occurrence of NKX3.1 C154T polymorphism in men with and without prostate cancer and studies of its effect on protein function.		602041	12697	2	2002	We conclude that  the polymorphic NKX3.1 allele codes for a variant protein with altered DNA binding activity that may affect prostate cancer risk.	Case prostate cancer patients;Control age-matched controls										
131609	N	autism	PSYCH	PSY	Autistic Disorder	X	Xq13.1	NLGN3	70281435	70307776		Vincent, J. B.  et al. 2004	15274046				Neuroligin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018977.2			CDC GDPinfo	54413	Hs.438877			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):82-4	Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.		300336	18565	2	2004	Our findings suggest that mutations in these two genes are infrequent in autism.	Cohort 196 autism probands 										
131611	N	autism	PSYCH	PSY	Autistic Disorder	X	Xp22.32-p22.31	NLGN4	5818082	6079812		Vincent, J. B.  et al. 2004	15274046				Neuroligin 4, X-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020742			CDC GDPinfo	57502	Hs.21107			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):82-4	Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands.		300427	23104	2	2004	Our findings suggest that mutations in these two genes are infrequent in autism.	Cohort 196 autism probands 										
131605		cardiomyopathy	CARDIOVASCULAR	CARD		1	1p13.1	NGFB	115630059	115682380		Alam M  et al. Int J Immunogenet. 2005 Dec;32(6):3	16313302		This polymorphism affects vitamin D receptor (VDR) binding to its motif in the NGF promoter.	promoter	Nerve growth factor, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002506.2			CDC GDPinfo	4803	Hs.2561			International journal of immunogenetics. 2005 Dec;32(6):379-82	Novel polymorphism in the promoter region of the human nerve growth-factor gene		162030	12695	2	2005	We describe a novel T to C transition at position -198 from the transcription start of the human nerve growth-factor (NGF) gene. In British Caucasoid healthy control group that we have genotyped, T and C allele frequencies are 0.633 and 0.367, respectively. This polymorphism affects vitamin D receptor (VDR) binding to its motif in the NGF promoter.											
131606	Y	depressive disorder, major; suicide	PSYCH	PSY	Depressive Disorder	17	17q21-q22	NGFR	44927665	44947360		Kunugi, H.  et al. 2004	15274039	(S205L)			Nerve growth factor receptor (TNFR superfamily, member 16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002507.1			CDC GDPinfo	4804	Hs.415768			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):44-6	A missense polymorphism (S205L) of the low-affinity neurotrophin receptor p75NTR gene is associated with depressive disorder and attempted suicide.		162010	12696	2	2004	Our results suggest that the S205L polymorphism of the p75(NTR) gene is involved in the pathogenesis of depressive disorder and suicidal behavior.	Control:164 controls matched for age and sex;Case:164 Japanese depressive disorder patients										
131607		congenital heart disease	DEVELOPMENTAL	DEV	Heart Defects, Congenital|Heart Septal Defects, Atrial|Hypoplastic Left Heart Syndrome|Heart Block	5	5q34	NKX2-5	172591743	172594868		Elliott, D. A.  et al. 2003	12798584				NK2 transcription factor related, locus 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004387.2		United States|Australia	CDC GDPinfo	1482	Hs.54473			Journal of the American College of Cardiology. 2003 Jun;41(11):2072-6	Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrialseptal defect and hypoplastic left heart syndrome.		600584	18564	2	2003	 Our findings suggest that NKX2-5 mutations are a relatively infrequent cause of sporadic ASD and HLHS. Screening for NKX2-5 mutations may be warranted in individuals with ASD and a positive family history, irrespective of the presence or absence of AV conduction block.	Cohort 146 individuals with secundum ASD, PFO complicated by paradoxical embolism, or HLHS 										
131602	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Martinez, A.  et al. 2003	12618859				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Spanish	Spain	CDC GDPinfo	4795	Hs.2764			Genes and immunity. 2003 Mar;4(2):117-21	Genetic polymorphisms in Spanish rheumatoid arthritis patients: an association and linkagestudy.		601022	27138	2	2003	Our data suggest that most of the loci studied play no major role in the susceptibility to RA, the IL-10 gene being the sole exception.	Case rheumatoid arthritis patients;Control:controls										
131603		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Shichi, D.  et al. 2005	16101831				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDPinfo	4795	Hs.2764			Tissue antigens. 2005 Sep;66(3):200-8	The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.		601022	27139	2	2005												
131604		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Miterski, B.  et al. 2004	15018649				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2		Germany	CDC GDPinfo	4795	Hs.2764			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		601022	27140	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
131599	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		de la Concha, E. G.  et al. 2000	11113070				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDPinfo	4795	Hs.2764			Gastroenterology. 2000 Dec;119(6):1491-5	Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL.		601022	23103	2	2000	 HLA-DRB1(*)0103 is associated with susceptibility to ulcerative colitis, and IKBL+738(C) marks a propensity to extensive and more severe disease.											
131600		ulcerative colitis; asthma	IMMUNE	IMM	Myocardial Infarction|Disease Susceptibility	6	6p21.3	NFKBIL1	31623350	31634585		Koch, W.  et al. 2005	15843211				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Japanese		CDC GDPinfo	4795	Hs.2764			Clinical chemistry and laboratory medicine. 2005 ;43(2):167-72	TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6.		601022	25359	2	2005	This Caucasian study group and the Japanese sample showed strong linkage disequilibrium in the myocardial infarction-associated BAT1-NFKBIL1-LTA genomic region and related haplotype content, but significantly different genotype frequencies. The new TaqMan systems provide relatively simple and fast assays to test the clinical relevance of these polymorphisms.	Cohort 1,211 Caucasians who presented without symptoms or signs of acute or previous myocardial infarction 										
131601		asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	NFKBIL1	31623350	31634585		Migita, O.  et al. 2005	15969671				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Japanese		CDC GDPinfo	4795	Hs.2764			Clinical and experimental allergy. 2005 Jun;35(6):790-6	Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.		601022	26470	2	2005	 Our results suggest that LTA is one of the genes that contributes to susceptibility to atopic asthma, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population.											
131596	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	NFKBIL1	31623350	31634585		Collado L, et al. 2004	15188381				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Spanish		Javier Martin	4795	Hs.2764			Arthritis and rheumatism. 2004 Jun;50(6):2032-3	Lack of association between the I kappa BL promoter polymorphism and rheumatoid arthritis		601022	4689	1	2004		Case:399; Control:382										
131597	Y	severe ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	IKBL	31623350	31634585		de la Concha EG et al. 2000	11113070				nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM559803			KGB	4795	Hs.2764			Gastroenterology. 2000 Dec;119(6):1491-5	Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL.			4690	1	2000	 HLA-DRB1(*)0103 is associated with susceptibility to ulcerative colitis, and IKBL+738(C) marks a propensity to extensive and more severe disease.											
131598	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Yamashita, T.  et al. 2004	14989711			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Japanese	Japan	CDC GDPinfo	4795	Hs.2764			Tissue antigens. 2004 Mar;63(3):223-30	IKBL promoter polymorphism is strongly associated with resistance to type 1 diabetes in Japanese		601022	12694	2	2004	Our study indicates the first evidence of a possible independent association between type 1 diabetes and polymorphisms in the promoter of the IKBL gene.	Case:124 Japanese patients with type 1 diabetes;Control:330 healthy control subjects										
131593		Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Osborne, J.  et al. 2005	15858823				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDPinfo	4792	Hs.81328			International journal of cancer. Journal international du cancer. 2005 Sep;116(4):646-51	Germline mutations and polymorphisms in the NFKBIA gene in Hodgkin lymphoma.		164008	12692	2	2005	Overall, our results suggest that germline mutations of NFKBIA are not a significant cause of familial aggregation of HL but may contribute to inherited susceptibility to HL. (c) 2005 Wiley-Liss, Inc.	Case Hodgkin lymphoma samples;Control:controls										
131594	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	14	14q13	NFKBIA	34940467	34943695		Kim, L. H.  et al. 2003	14961554				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDPinfo	4792	Hs.81328			Human mutation. 2003 Jun;21(6):652-3	Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients		164008	18563	2	2003	As a conclusion, we could not find any significant association of NFKBIA variants with development of HCC among chronic hepatitis B patients.	Cohort 1,750 chronic hepatitis B patients 										
131595	N	breast cancer	CANCER	CAN	Breast Neoplasms	14	14q13	NFKBIA	34940467	34943695		Curran, J. E.  et al. 2002	12406554				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1	Caucasian		CDC GDPinfo	4792	Hs.81328			Cancer letters. 2002 Dec;188(2-Jan):103-7	Polymorphic variants of NFKB1 and its inhibitory protein NFKBIA, and their involvement in sporadic breast cancer.		164008	23102	2	2002	Results do not support an involvement of the tested NFKB1 and NFKBIA polymorphisms in susceptibility to sporadic breast cancer, in the tested Caucasian population.	Case Caucasian breast cancer affected individuals;Control age-matched controls										
131590			OTHER	OTH		10	10q24	NFKB2	104144218	104152271		Derudder E 2003	12927781	p100HB			Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002502.2			KGB	4791	Hs.73090			Biochemical and biophysical research communications. 2003 Sep;308(4):744-9	Identification and characterization of p100HB, a new mutant form of p100/NF-kappa B2.		164012	4686	1	2003												
131591	Y	autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency	OTHER	OTH	Ectodermal Dysplasia|Immunologic Deficiency Syndromes	14	14q13	NFKBIA	34940467	34943695		Courtois G 2003	14523047				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			KGB	4792	Hs.81328			The Journal of clinical investigation. 2003 Oct;112(7):1108-15	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.		164008	4687	1	2003												
131592	Y	multiple myeloma	CANCER	CAN	Multiple Myeloma	14	14q13	NFKBIA	34940467	34943695		Parker KM et al. 2002	12377412				nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM908726			KGB	4792				Cancer Genet Cytogenet	Identification of polymorphisms of the IkappaBalpha gene associated with an increased risk of multiple myeloma.		164008	4688	1	2002												
131587		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Kim, T. H.  et al. 2005	16206345				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Korean, Canadian	Canada|Korea	CDC GDPinfo	4790	Hs.431926			The Journal of rheumatology. 2005 Oct;32(10):1907-10	Interleukin 1 and nuclear factor-kappaB polymorphisms in ankylosing spondylitis in Canada and Korea.		164011	25357	2	2005	 Our analysis of these SNP in the IL-1 complex and NF-kappaB genes does not support a major role for either in AS susceptibility in the Seoul and Toronto populations.											
131588		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	4	4q24	NFKB1	103641517	103757507		Landi, S.  et al. 2003	12839942				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2		Spain	CDC GDPinfo	4790	Hs.431926			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		164011	25358	2	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
131589		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Saito, T.  et al. 2004	15063762				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2		Japan	CDC GDPinfo	4790	Hs.431926			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		164011	28591	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
131584	N	breast cancer	CANCER	CAN	Breast Neoplasms	4	4q24	NFKB1	103641517	103757507		Curran, J. E.  et al. 2002	12406554				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Caucasian		CDC GDPinfo	4790	Hs.431926			Cancer letters. 2002 Dec;188(2-Jan):103-7	Polymorphic variants of NFKB1 and its inhibitory protein NFKBIA, and their involvement in sporadic breast cancer.		164011	18562	2	2002	Results do not support an involvement of the tested NFKB1 and NFKBIA polymorphisms in susceptibility to sporadic breast cancer, in the tested Caucasian population.	Case Caucasian breast cancer affected individuals;Control age-matched controls										
131585		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Klein, W.  et al. 2004	13680285				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			International journal of colorectal disease. 2004 Mar;19(2):153-6	A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene.		164011	23100	2	2004	 The findings indicate that the phenotype Crohn's disease is to be substructured with respect to genetic susceptibility.	Case:259 patients with Crohn's disease;Control:441 healthy controls										
131586		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Lymphatic Metastasis	4	4q24	NFKB1	103641517	103757507			16387424				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			Cancer letters. 2005	Functional polymorphism in NFKB1 promoter is related to the risks of oral squamous cell carcinoma occurring on older male areca (betel) chewers		164011	23101	2	2005												
131581		Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507			16313306			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			International journal of immunogenetics. 2005 Dec;32(6):401-5	A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis		164011	12691	2	2005												
131582	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q24	NFKB1	103641517	103757507		Wintermeyer, P.  et al. 2002	12203044				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			J Neural Transm. 2002 Sep;109(9):1181-8	Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients.		164011	18560	2	2002	Our study does not support a genetically definable role of NFKB1 in the pathogenesis of sporadic PD.	Cohort 96 sporadic Parkinson's disease patients 										
131583	Y	arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Butt, C.  et al. 2005	16142871				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			The Journal of rheumatology. 2005 Sep;32(9):1742-4	Association of nuclear factor-kappaB in psoriatic arthritis.		164011	18561	2	2005	 No association between the NFKB1 -94 ins/delATTG promoter polymorphism or with other NF-kappaB complex SNP in patients with PsA from Newfoundland was observed.											
131578	Y	ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative	4	4q24	NFKB1	103641517	103757507		Karban, A.  et al. 2003	14613970			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			Human molecular genetics. 2004 Jan;13(1):35-45	Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.		164011	12688	2	2003	Therefore, we have identified the first potentially functional polymorphism of NFKB1 and demonstrated its genetic association with a common human disease, ulcerative colitis.	Control:149 non-Jewish controls;Case:235 pedigrees with ulcerative colitis offspring;Case:258 unrelated, non-Jewish ulcerative colitis cases;Control:653 new, non-Jewish controls										
131579	N	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	4	4q24	NFKB1	103641517	103757507		Orozco, G.  et al. 2005	15713218			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDPinfo	4790	Hs.431926			Tissue antigens. 2005 Feb;65(2):183-6	Analysis of the functional NFKB1 promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus.		164011	12689	2	2005	From these results, it seems that the -94ins/delATTG and the (CA)(n) repeat of NFKB1 gene may not play a relevant role in RA and/or SLE in our population.	Control:264 healthy controls;Case:272/181 rheumatoid arthritis (n=272) and systemic lupus:erythematosus (n=181) patients southern Spain										
131580	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Oliver, J.  et al. 2005	15905705			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Spanish	Spain	CDC GDPinfo	4790	Hs.431926			Inflammatory bowel diseases. 2005 Jun;11(6):576-9	A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population.		164011	12690	2	2005	 These results suggest that the NFKB1 -94ins/delATTG gene variation, previously associated with UC susceptibility in North Americans, does not influence either susceptibility or phenotype of UC in the Spanish population.	Case:258 ulcerative colitis patients southern Spain;Control:264 healthy controls										
131575	N	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	4	4q24	NFKB1	103641517	103757507	n	Landi et al., 2003	12839942	rs1020759 intron 11 G>A	likely none	other	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Spanish	Spain	GAN (IARC) and GRG (University of Pisa)	4790	Hs.431926			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		164011	4685	1	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
131576	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Hegazy, D. M.  et al. 2001	11607785				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2		Great Britain	CDC GDPinfo	4790	Hs.431926			Genes and immunity. 2001 Oct;2(6):304-8	NFkappaB Polymorphisms and susceptibility to type 1 diabetes		164011	12686	2	2001	These results demonstrate that the NFkappaB gene may play a role in the susceptibility to type 1	Control:111 normal healthy controls;Case:217 patients with type 1 diabetes mellitus										
131577	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Disease Progression|Disease Susceptibility	4	4q24	NFKB1	103641517	103757507		Abdallah, A.  et al. 2003	12944982			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Dutch	Great Britain|Netherlands	CDC GDPinfo	4790	Hs.431926			Genes and immunity. 2003 Sep;4(6):450-4	Inhibitor kappa B-alpha (IkappaB-alpha) promoter polymorphisms in UK and Dutch sarcoidosis.		164011	12687	2	2003	These results indicate that the NF-kappaB activation pathway might be associated with the inflammation of sarcoidosis	Case Caucasian sarcoidosis patients UK and the Netherlands;Control matching controls										
131572		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	22	22q12.2	NF2	28329564	28424585		Sadetzki, S.  et al. 2005	15824172				Neurofibromin 2 (bilateral acoustic neuroma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000268.2		Israel	CDC GDPinfo	4771	Hs.187898			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		607379	27575	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
131573	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomegaly	14	14q11.2	NFATC4	23907093	23918650		Poirier, O.  et al. 2003	12939651				Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004554.3			CDC GDPinfo	4776	Hs.77810			European journal of human genetics. 2003 Sep;11(9):659-64	Polymorphisms of genes of the cardiac calcineurin pathway and cardiac hypertrophy		602699	12685	2	2003	Although the strength of the associations was rather weak, these observations raise the hypothesis that the G160A polymorphism of the NFATC4 gene plays a role in the development of human cardiac hypertrophy.	Case dilated cardiomyopathy cases selected from subjects obtained from a population-based study (LOVE);Control controls obtained from the CARDIGENE Study										
131574	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q24	NFkB1	103779673	103895661		Wintermeyer P et al. 2002	12203044				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998			KGB	4790	Hs.431926			J Neural Transm. 2002 Sep;109(9):1181-8	Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients.		164011	4684	1	2002	Our study does not support a genetically definable role of NFKB1 in the pathogenesis of sporadic PD.	Cohort 96 sporadic Parkinson's disease patients										
131569	Y	Neurofibromatosis type 2	CANCER	CAN	Neurofibromatosis 2	22	22q12.2	NF2	28329564	28424585		Kluwe L et al. 1998	9605590			splice variant	Neurofibromin 2 (bilateral acoustic neuroma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000268.2			KGB	4771	Hs.187898			American journal of medical genetics. 1998 May;77(3):228-33	Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.		607379	4682	1	1998												
131570		gastrointestinal nerve sheath tumors	OTHER	OTH	Neurilemmoma|Neurofibromatosis 2|Gastrointestinal Neoplasms	22	22q12.2	NF2	28329564	28424585		Lasota J 2003	13679444				Neurofibromin 2 (bilateral acoustic neuroma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000268.2			KGB	4771	Hs.187898			Laboratory investigation; a journal of technical methods and pathology. 2003 Sep;83(9):1361-71	Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases.		607379	4683	1	2003												
131571	Y	neurofibromatosis2	CANCER	CAN	Neurofibromatosis 2|Nervous System Neoplasms	22	22q12.2	NF2	28329564	28424585		Baser, M. E.  et al. 2004	15190457				Neurofibromin 2 (bilateral acoustic neuroma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000268.2			CDC GDPinfo	4771	Hs.187898			American journal of human genetics. 2004 Aug;75(2):231-9	Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-basedstudy.		607379	18559	2	2004	We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors. People with constitutional NF2 missense mutations, splice-site mutations, large deletions, or somatic mosaicism had significantly fewer tumors than did people with constitutional nonsense or frameshift NF2 mutations. In addition, there were significant intrafamilial correlations for intracranial meningiomas and spinal tumors, after adjustment for the type of constitutional NF2 mutation. The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.	Cohort 406 patients from the population-based United Kingdom NF2 registry UK 										
131566	Y	autism	PSYCH	PSY	Autistic Disorder	17	17q11.2	NF1	26446120	26728821		Marui, T.  et al. 2004	15389774				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1	Japanese		CDC GDPinfo	4763	Hs.567266			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):43-7	Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population.		162200	18557	2	2004	This may suggest an involvement of the NF1 locus in susceptibility to autism, although further investigations are recommended.	Control:122:controls;Case:74 Japanese subjects with autism										
131567		neurofibromatosis1	CANCER	CAN	Neurofibromatosis 1	17	17q11.2	NF1	26446120	26728821		Horan, M. P.  et al. 2004	15523626			promoter	Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			CDC GDPinfo	4763	Hs.567266			American journal of medical genetics Part A. 2004 Dec;131(3):227-31	Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.		162200	18558	2	2004	Five novel sequence variants were identified, comprising a 14 bp deletion at -142 within the promoter region, three single nucleotide substitutions in the 5'UTR (C + 247T, C + 261G, G + 462C), and a substitution (C + 514T) at the 5' end of the coding region that served to generate a Stop codon. The latter is likely to be of pathological significance since it is predicted to lead to the synthesis of a truncated protein. The functional significance of three of the other variants (14 bp del, C + 261G, G + 462C) was explored by luciferase reporter gene expression and electrophoretic mobility shift assays. The del14 variant demonstrated allele-specific protein binding without altered reporter gene expression and the G + 462C allele showed slightly decreased reporter gene expression.	Control:105:controls;Case:570 unrelated neurofibromatosis patients										
131568		neurofibromatosis1; Noonan syndrome	CANCER	CAN	Neurofibromatosis 1|Noonan Syndrome	17	17q11.2	NF1	26446120	26728821			16380919				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			CDC GDPinfo	4763	Hs.567266			American journal of human genetics. 2005 Dec;77(6):1092-101	NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome		162200	19173	2	2005												
131563		neurofibromatosis1	CANCER	CAN	Neurofibromatosis 1	17	17q11.2	NF1	26446120	26728821		De Luc, A.  et al. 2003	12552569				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			CDC GDPinfo	4763	Hs.567266			Human mutation. 2003 Feb;21(2):171-2	NF1 gene analysis based on DHPLC.		162200	18554	2	2003	Our results suggest that DHPLC provides an accurate method for the rapid identification of NF1 mutations.	Case:40 unrelated NF1 patients										
131564		neurofibromatosis1	CANCER	CAN	Neurofibromatosis 1	17	17q11.2	NF1	26446120	26728821		Kluwe, L.  et al. 2004	14722914				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			CDC GDPinfo	4763	Hs.567266			Human mutation. 2004 Feb;23(2):111-6	Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene		162200	18555	2	2004	Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes.	Cohort 433 individuals with neurofibromatosis 1 										
131565	N	neurofibromatosis1	CANCER	CAN	Neurofibromatosis 1	17	17q11.2	NF1	26446120	26728821		Luca, A. D.  et al. 2004	15146469				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1	Italian	Italy	CDC GDPinfo	4763	Hs.567266			Human mutation. 2004 Jun;23(6):629	Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.		162200	18556	2	2004	Genotype-phenotype analysis was unable to detect any obvious correlation.	Cohort 110 unrelated Italian subjects affected by neurofibromatosis type 1 Italy 										
131559	Y	neurofibromatosis 1	CANCER	CAN	Astrocytoma|Neurofibromatosis 1	17	17q11.2	NF1	26446120	26728821		Tada K 2003	14565158				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Neuro-oncology. 2003 Oct;5(4):228-34	Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1.		162200	4678	1	2003												
131560		gastrointestinal nerve sheath tumors	OTHER	OTH	Neurilemmoma|Neurofibromatosis 2|Gastrointestinal Neoplasms	17	17q11.2	NF1	26446120	26728821		Lasota J 2003	13679444				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Laboratory investigation; a journal of technical methods and pathology. 2003 Sep;83(9):1361-71	Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases.		162200	4679	1	2003												
131562		cardiovascular	CARDIOVASCULAR	CARD	Neurofibromatosis 1|Mental Retardation|Cardiovascular Abnormalities|Chromosome Deletion	17	17q11.2	NF1	26446120	26728821		Gibson AM 2004	14729829				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Journal of medical genetics. 2004 Jan;41(1):35-41	Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.		162200	4681	1	2004												
131555	Y	aberrant splicing	OTHER	OTH		17	17q11.2	NF1	26446120	26728821		Messiaen LM et al. 1999	11258625			splice variant	Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Genetics in medicine. 1999 Sep-Oct;1(6):248-53	Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.		162200	4674	1	1999	 As exon 10b shows the highest mutation rate yet found in any of the 60 NF1 exons, it should be implemented with priority in mutation analysis.											
131556	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.2	NF1	26446120	26728821	n	Mbarek O et al. 1999	10581497				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			American journal of medical genetics. 1999 Dec;88(6):729-32	Association study of the NF1 gene and autistic disorder.		162200	4675	1	1999												
131558	N	autism	PSYCH	PSY	Autistic Disorder	17	17q11.2	NF1	26446120	26728821	n	Plank SM et al. 2001	11449390			intron	Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			American journal of medical genetics. 2001 Jul;105(5):404-5	Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism.		162200	4677	1	2001												
131551	Y	glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	10	10q21.3	NEUROG3	71001796	71003128		Jackson, A. E.  et al. 2004	15277395				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Indian	India	CDC GDPinfo	50674	Hs.532682			Diabetes. 2004 Aug;53(8):2122-5	Polymorphic Variations in the Neurogenic Differentiation-1, Neurogenin-3, and Hepatocyte Nuclear Factor-1{alpha} Genes Contribute to Glucose Intolerance in a South Indian Population		604882	23099	2	2004	In conclusion, we observed a combined effect of variations in NEUROD1, NEUROG3, and TCF1 in contributing to overall glucose intolerance in a South Indian population.	Cohort 454 subjects recruited as part of a population survey in South India south India 										
131552		Neurofibroma	CANCER	CAN	Neurofibroma	17	17q11.2	NF1	26446120	26728821		Kluwe L et al. 1999	10451710				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Genes, chromosomes & cancer. 1999 Mar;24(3):283-5	Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma.		162200	4671	1	1999												
131554		neurofibromas	CANCER	CAN	Neurofibroma, Plexiform|Neurofibromatosis 1|Orbital Neoplasms|Facial Neoplasms|Peripheral Nervous System Diseases	17	17q11.2	NF1	26446120	26728821		Kluwe L et al. 1999	10459349				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Cancer genetics and cytogenetics. 1999 Aug;113(1):65-9	Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.		162200	4673	1	1999												
131547	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q21.3	NEUROG3	71001796	71003128	n	Okada T et al. 2001	11270683				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Japanese	Japan	KGB	50674	Hs.532682			Diabetologia. 2001 Feb;44(2):241-4	Variants of neurogenin 3 gene are not associated with Type II diabetes in Japanese subjects.		604882	6755	1	2001	Mutations and polymorphisms of ngn3 gene are not significantly associated with Type II (non-insulin-dependent) diabetes mellitus in the Japanese subjects.	Case:197 patients with Type II (non-insulin-dependent) diabetes mellitus;Control:216 unspecified controls										
131548	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	10	10q21.3	NEUROG3	71001796	71003128		Jensen JN 2001	11206403				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Caucasian	Denmark	Y Wang	50674	Hs.532682	MODY		Diabetologia. 2001 Jan;44(1):123-6	Polymorphisms in the neurogenin 3 gene (NEUROG) and their relation to altered insulin secretion and diabetes in the Danish Caucasian population.		604882	6756	1	2001	Genetic variability in NEUROG3 is not associated with dominant Type I diabetes, MODY, Type II diabetes or changes in insulin secretion in the Danish Caucasians examined subjects.	Control:217 glucose-tolerant control subjects;Case:377 Danish Caucasian diabetic patients										
131550	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q21.3	NEUROG3	71001796	71003128		Okada, T.  et al. 2001	11270683				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Japanese	Japan	CDC GDPinfo	50674	Hs.532682			Diabetologia. 2001 Feb;44(2):241-4	Variants of neurogenin 3 gene are not associated with Type II diabetes in Japanese subjects		604882	18553	2	2001	Mutations and polymorphisms of ngn3 gene are not significantly associated with Type II (non-insulin-dependent) diabetes mellitus in the Japanese subjects.	Case:197 patients with Type II (non-insulin-dependent) diabetes mellitus;Control:216 unspecified controls										
131543	Y	glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	2	2q32	NEUROD1	182249438	182253626		Jackson, A. E.  et al. 2004	15277395				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Indian	India	CDC GDPinfo	4760	Hs.72981			Diabetes. 2004 Aug;53(8):2122-5	Polymorphic Variations in the Neurogenic Differentiation-1, Neurogenin-3, and Hepatocyte Nuclear Factor-1{alpha} Genes Contribute to Glucose Intolerance in a South Indian Population		601724	19781	2	2004	In conclusion, we observed a combined effect of variations in NEUROD1, NEUROG3, and TCF1 in contributing to overall glucose intolerance in a South Indian population.	Cohort 454 subjects recruited as part of a population survey in South India south India 										
131544	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NEUROD1	182249438	182253626		Cinek, O.  et al. 2003	12639765				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Czech	Czech Republic	CDC GDPinfo	4760	Hs.72981			Diabetes research and clinical practice. 2003 Apr;60(1):49-56	NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.		601724	26469	2	2003	Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.	Case:285 Czech children with type 1 diabetes mellitus;Control:289 non-diabetic control children										
131546		MODY	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q13.2	NEUROD4	53699888	53707486		Horikawa Y et al. 2000	11078465				Neurogenic differentiation 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021191.1	Japanese	Japan	KGB	58158	Hs.591024			Diabetes. 2000 Nov;49(11):1955-7	beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY.			6796	1	2000												
131539		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Kavvoura, F. K.  et al. 2004	15592940	Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			CDC GDPinfo	4760	Hs.72981			Human genetics. 2005 Feb;116(3):192-9	Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis.		601724	12681	2	2004	The Ala45Thr polymorphism of the NEUROD1 gene has no effect on susceptibility to T2D. It may however be a risk factor for susceptibility to T1D, in particular for subjects of Asian descent, although bias cannot be totally excluded.	Control:2,446:controls;Case:3,057 patients with diabetes (T1D n=1,213, T2D n=1,844)										
131540	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NEUROD1	182249438	182253626			16357810	Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1		Brazil	CDC GDPinfo	4760	Hs.72981			Diabetes & metabolism. 2005 Dec;31(6):599-602	The Ala45Thr polymorphism of NEUROD1 is associated with type 1 diabetes in Brazilian women		601724	12682	2	2005	 We found a gender-specific association of the Ala45Thr variant of NEUROD1 with Type 1 diabetes in Brazilian women. Our results suggest that gender as well as ethnicity might modulate the association of NEUROD1 with Type 1 diabetes.											
131541		diabetes, type 2; diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Sagen, J. V.  et al. 2005	16026366				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1		Norway	CDC GDPinfo	4760	Hs.72981			Diabetic medicine. 2005 Aug;22(8):1012-5	Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus.		601724	18551	2	2005	 As we found no NEUROD1 mutations, diagnostic screening for this gene is not warranted in Norwegian MODYX patients. Our study also suggests that NEUROD1 is not a candidate gene in gestational diabetes mellitus (GDM). The sequence variant Ser29Cys was identified in one anonymous DNA sample, but we were prevented from studying possible co-segregation with diabetes mellitus.											
131536	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Ye, L.  et al. 2002	12476420				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Chinese		CDC GDPinfo	4760	Hs.72981			Zhonghua yi xue yi chuan xue za zhi. 2002 Dec;19(6):484-7	[Association of polymorphism in neurogenic differentiation factor 1 gene with type 2 diabetes]		601724	12678	2	2002	 The genetic polymorphism in the Neuro D is associated with the development of early-onset type 2 diabetes. The presence of Thr45 allele may represent a risk factor for early-onset type 2 diabetes among Chinese.	Control:124 subjects with normal glucose tolerance;Case:324 patients with type 2 diabetes										
131537		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Malecki, M. T.  et al. 2003	12861411	Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Polish	Poland	CDC GDPinfo	4760	Hs.72981			Acta diabetologica. 2003 Jun;40(2):109-11	The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 2 diabetes mellitus in a Polish population.		601724	12679	2	2003	In conclusion, the frequency of Ala45Thr polymorphism in this studied Polish population is similar to its frequency in other Caucasians. We did not find evidence that the Ala45Thr polymorphism of BETA2/NeuroD1 played a role in the risk of T2DM in the examined Polish population.	Control:171 controls without a family history of type 2:diabetes;Case:223 type 2 diabetic patients with the age at diagnosis above 35 years:Poland										
131538		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Malecki, M. T.  et al. 2003	12951629	Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Caucasian		CDC GDPinfo	4760	Hs.72981			Experimental and clinical endocrinology & diabetes. 2003 Aug;111(5):251-4	The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 1 diabetes mellitus in caucasians.		601724	12680	2	2003	Our case-control study suggests that the Ala45 variant of BETA2/NeuroD1 may be associated with T1DM in Caucasians (or in linkage disequilibrium with a causative variant). However, this finding should be confirmed by a much larger family-based study.	Control:139 controls with normal fasting glucose;Case:202 type 1 diabetes cases										
131533		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NEUROD1	182249438	182253626		Yamada S 2004	11473083				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Japanese	Japan	Y Wang	4760	Hs.72981			Diabetes care. 2001 Aug;24(8):1438-41	NeuroD/beta2 gene G-->A polymorphism may affect onset pattern of type 1 diabetes in Japanese		601724	4669	1	2004	 These results support our hypothesis that NeuroD/BETA2 may affect the ability of regeneration of beta-cells, leading to a difference in the onset pattern and clinical course of type 1 diabetes.											
131534		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NeuroD1	182366700	182370760		Vella A 2004	15047635	Ala(45)Thr			Neurogenic differentiation 1		caucasian		KGB	4760	Hs.72981			Diabetes. 2004 Apr;53(4):1158-61	Lack of association of the Ala(45)Thr polymorphism and other common variants of the NeuroD gene with type 1 diabetes.		601724	4670	1	2004												
131535	Y	beta-cell function; diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Mochizuki, M.  et al. 2002	11755474	Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Japanese	Japan	CDC GDPinfo	4760	Hs.72981			Diabetes research and clinical practice. 2002 Jan;55(1):7-Nov	The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese.		601724	12677	2	2002	In conclusion, the Ala45Thr polymorphism contributes to the risk of development of, and to the early deterioration of beta-cell function, in Type 1a diabetes among the Japanese population.	Control:121 non-diabetic subjects;Case:80 patients with child-onset Type 1 diabetes										
131528	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NEUROD1	182249438	182253626		Cinek O et al.2003	12639765			coding sequence	Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Czech	Czech Republic	Y Wang	4760	Hs.72981			Diabetes research and clinical practice. 2003 Apr;60(1):49-56	NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.		601724	4664	1	2003	Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.	Case:285 Czech children with type 1 diabetes mellitus;Control:289 non-diabetic control children										
131529	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Malecki MT et al. 2003	12951629				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	caucasians		Y Wang	4760	Hs.72981			Experimental and clinical endocrinology & diabetes. 2003 Aug;111(5):251-4	The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 1 diabetes mellitus in caucasians.		601724	4665	1	2003	Our case-control study suggests that the Ala45 variant of BETA2/NeuroD1 may be associated with T1DM in Caucasians (or in linkage disequilibrium with a causative variant). However, this finding should be confirmed by a much larger family-based study.	Control:139 controls with normal fasting glucose;Case:202 type 1 diabetes cases										
131531	N	Type II diabetes	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626	n	Dupont S et al. 1999	10230653				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			KGB	4760	Hs.72981			Diabetologia. 1999 Apr;42(4):480-4	No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France.		601724	4667	1	1999												
131524		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	10	10p15	NET1	5444517	5490426		Xu, X.  et al. 2005	15719398				Neuroepithelial cell transforming gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005863.2			CDC GDPinfo	10276	Hs.25155			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):115-8	DNA pooling analysis of 21 norepinephrine transporter gene SNPs with attention deficit hyperactivity disorder: no evidence forassociation.		606450	18550	2	2005	We conclude that  none of the markers show significant evidence of association with ADHD although we cannot rule out small genetic effects.	Case:180 attention deficit hyperactivity cases from two case:pools;Control:334 controls from four control pools										
131526	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Iwata I et al. 1999	10334323				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Japanese	Japan	KGB	4760	Hs.72981			Diabetes. 1999 Feb;48(2):416-9	Association of polymorphism in the NeuroD/BETA2 gene with type 1 diabetes in the Japanese.		601724	4662	1	1999												
131527	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q32	NEUROD1	182249438	182253626		Dupont S et al. 1999	10633878	A45T			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	French	France	KGB	4760	Hs.72981			Diabetes & metabolism. 1999 Dec;25(6):516-7	Absence of replication in the French population of the association between beta 2/NEUROD-A45T polymorphism and type 1 diabetes.		601724	4663	1	1999												
131521	Y	motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	22	22q12.2	NEFH	28206218	28217277		Skvortsova, V.  et al. 2004	14722583				Neurofilament, heavy polypeptide 200kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021076.2	Russian	Moscow	CDC GDPinfo	4744	Hs.198760			European journal of human genetics. 2004 Mar;12(3):241-4	Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND)		162230	12676	2	2004	We conclude that  the NEFH gene is involved in the pathogenesis of sporadic MND. The SS genotype represents a risk factor for the development and progression of sporadic MND in the Moscow population.	Case Russian sporadic motor neuron disease:Moscow, Russia;Control:controls										
131522		Charcot-Marie-Tooth neuropathy	NEUROLOGICAL	NEUR	Muscle Weakness|Deafness|Charcot-Marie-Tooth Disease	8	8p21	NEFL	24864385	24870043		Zuchner S 2004	14733962				Neurofilament, light polypeptide 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006158.2			KGB	4747	Hs.521461			Neuromuscular disorders. 2004 Feb;14(2):147-57	The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.		162280	4661	1	2004												
131523	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	8	8p21	NEFL	24864385	24870043		Rahner, N.  et al. 2002	12231460				Neurofilament, light polypeptide 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006158.2			CDC GDPinfo	4747	Hs.521461			Brain research. 2002 Sep;951(1):82-6	Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.		162280	18548	2	2002	Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD.	Case:328 sporadic and familial PD patients of German:ancestry;Control:344:controls										
131517	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	18	18p11.31-p11.2	NDUFV2	9092724	9124336		Washizuka, S.  et al. 2004	15450783				NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021074.1	Japanese	United States|Japan	CDC GDPinfo	4729	Hs.464572			Biological psychiatry. 2004 Oct;56(7):483-9	Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees		600532	18545	2	2004	 Together these findings indicate that the polymorphisms in the promoter region of NDUFV2 are a genetic risk factor for bipolar disorder by affecting promoter activity.	Control control subjects;Case Japanese patients with bipolar disorder										
131518		hypertension	CARDIOVASCULAR	CARD	Hypertension|Hypotension, Orthostatic	18	18q21	NEDD4L	53862777	54216369		Russo, C. J.  et al. 2005	16103266				Neural precursor cell expressed, developmentally down-regulated 4-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015277.2		United States|Greece	CDC GDPinfo	23327	Hs.185677			Hypertension. 2005 Sep;46(3):488-91	Association of NEDD4L ubiquitin ligase with essential hypertension.		606384	18546	2	2005												
131519		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	8	8p21	NEF3	24827212	24832510		Kruger, R.  et al. 2003	14583397				Neurofilament 3 (150kDa medium)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005382.1			CDC GDPinfo	4741	Hs.458657			Neuroscience letters. 2003 Nov;351(2):125-9	Mutation analysis of the neurofilament M gene in Parkinson's disease.		162250	18547	2	2003	Our results argue against a major role of NF-M in PD. However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in NEUROLOGICALeneration.	Control:controls;Case:322 familial and sporadic Parkinson's disease patients										
131514		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	8	8q24.3	NDRG1	134318595	134379011		Boerkoel, C. F.  et al. 2002	11835375				N-myc downstream regulated gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006096.2			CDC GDPinfo	10397	Hs.372914			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		605262	27807	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
131515		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	18	18p11.31-p11.2	NDUFV2	9092724	9124336		Tan, E. K.  et al. 2002	12391372				NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021074.1			CDC GDPinfo	4729	Hs.464572			Neurology. 2002 Oct;59(8):1288-9	Mitochondrial complex I polymorphism and cigarette smoking in Parkinson's disease		600532	12674	2	2002	Cigarette smoking was associated with a lower risk of PD in our study population. This similar trend was also observed when we compared smoking prevalence with our historical population controls, supporting results of studies in other populations. However	Control:223 controls similar in age, sex and ethnicity, randomly selected from general population who participated in a general health-screening program;Case:224 patients with Parkinson's disease	smoking (tobacco)									
131516	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	18	18p11.31-p11.2	NDUFV2	9092724	9124336		Washizuka, S.  et al. 2003	12815743				NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021074.1			CDC GDPinfo	4729	Hs.464572			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):72-8	Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder.		600532	18544	2	2003	Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder.	Case patients with bipolar disorder;Control healthy controls										
131511		retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity	X	Xp11.4	NDP	43692967	43717694		Hiraoka, M.  et al. 2001	11322656				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			CDC GDPinfo	4693	Hs.522615			Journal of human genetics. 2001 ;46(4):178-81	Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.		310600	18541	2	2001	Taking into account the above results, as well as those of other studies, it appears that the ND gene mutations can account for 3% of cases of advanced ROP. Although the ND gene is not frequently involved in advanced ROP, the present large-scale study further supports the hypothesis that genetic influences may play an important role in the development of severe ROP in some premature infants.	Case:100 pre-term babies of different ethnic backgrouns who developed retinopathy of prematurity;Control:130 normal, unrelated controls										
131512		retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity	X	Xp11.4	NDP	43692967	43717694		Hutcheson, K. A.  et al. 2005	16052165				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			CDC GDPinfo	4693	Hs.522615			Molecular vision [electronic resource]. 2005 Jul;11:501-8	Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.		310600	18542	2	2005	 Of the six sequence alterations found, five were novel nucleotide changes: One in the 5' UTR region of exon 2, and four in the 3' UTR region of exon 3. The extent of NDP polymorphisms in this large, racially diverse group of infants is moderate. NDP polymorphisms may play a role in the pathogenesis of ROP, but do not appear to be a major causative factor.											
131513		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	8	8q24.3	NDRG1	134318595	134379011		Hunter, M.  et al. 2003	12872253				N-myc downstream regulated gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006096.2			CDC GDPinfo	10397	Hs.372914			Human mutation. 2003 Aug;22(2):129-35	Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.		605262	18543	2	2003	Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns.	Cohort 104 Charcot-Marie-Tooth disease 										
131508	N	retinopathy of prematurity in Norrie disease	OTHER	OTH	Retinopathy of Prematurity	X	Xp11.4	NDP	43692967	43717694	n	Haider MZ et al. 2000	10657684				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1		Kuwait	KGB	4693	Hs.522615			Biology of the neonate. 2000 Feb;77(2):88-91	Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs.		310600	4660	1	2000												
131509	Y	retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity|Disease Progression|Birth Weight	X	Xp11.4	NDP	43692967	43717694		Haider, M. Z.  et al. 2002	12145535	C597-->A			Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1		Kuwait	CDC GDPinfo	4693	Hs.522615			Journal of biomedical science. 2002 Jul-Aug;9(4):365-70	A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.		310600	12673	2	2002	The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups.	Control:115 premature infants with no eye problems;Case:95 premature Kuwaiti infants with retinopathy of:prematurity:Kuwait										
131510	N	Norrie disease	OTHER	OTH	Retinopathy of Prematurity|Disease Progression	X	Xp11.4	NDP	43692967	43717694		Haider, M. Z.  et al. 2001	11285060				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1		Kuwait	CDC GDPinfo	4693	Hs.522615			Pediatrics international. 2001 Apr;43(2):120-3	Retinopathy of prematurity: mutations in the Norriedisease gene and the risk of progression to advanced stages.		310600	18540	2	2001	 Unlike data from the US, our findings from a Kuwaiti cohort of ROP cases and controls suggest a lack of association between the two ND gene mutations (A105T and Val60Glu) and ROP and the risk of progression of the disease to advanced stages.	Control:115 babies from cohort that had no eye problems:Kuwait:Cohort:210 Premature newborns;Case:95 retinopathy of newborn cases:Kuwait										
131504	Y	advanced retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity|Disease Progression|Birth Weight	X	Xp11.4	NDP	43692967	43717694		Haider MZ et al. 2002	12145535				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1		Kuwait	KGB	4693	Hs.522615			Journal of biomedical science. 2002 Jul-Aug;9(4):365-70	A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.		310600	4656	1	2002	The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups.	Control:115 premature infants with no eye problems;Case:95 premature Kuwaiti infants with retinopathy of:prematurity:Kuwait										
131505	Y	classical ocular phenotype	OTHER	OTH	Deafness|Mental Retardation|Blindness|Retinal Degeneration|Chromosome Deletion|Sex Chromosome Aberrations|Syndrome	X	Xp11.4	NDP	43692967	43717694		Caballero M et al. 1996	9010869				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			KGB	4693	Hs.522615			Ophthalmic genetics. 1996 Dec;17(4):187-91	Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.		310600	4657	1	1996												
131507	Y	Cys39Arg mutation	OTHER	OTH	Blindness	X	Xp11.4	NDP	43692967	43717694		Joos KM et al. 1994	7993212				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			KGB	4693	Hs.522615			Archives of ophthalmology. 1994 Dec;112(12):1574-9	Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.		310600	4659	1	1994	 Ophthalmoscopy and electroretinography could not identify carriers of this Norrie disease mutation. Single-strand conformation polymorphism analysis was more sensitive and specific than linkage analysis in identifying carriers in this family.											
131500	N	Body Weight Regulation	METABOLIC	MET	Prader-Willi Syndrome|Obesity, Morbid|Body Weight	15	15q11.2-q12	NDN	21481646	21483543	n	Oeffner F et al. 2001	11439287			coding sequence	Necdin homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002487.2	German		KGB	4692	Hs.50130			International journal of obesity and related metabolic disorders. 2001 Jun;25(6):767-9	Systematic screening for mutations in the human necdin gene (NDN): identification of two naturally occurring polymorphisms and association analysis in body weight regulation.		602117	4653	1	2001	 Hence, it is unlikely that these polymorphisms play a major role in the emergence of juvenile onset human obesity.	Cohort extremely obese children and adolescents German										
131501	N	body mass	METABOLIC	MET	Prader-Willi Syndrome|Obesity, Morbid|Body Weight	15	15q11.2-q12	NDN	21481646	21483543		Oeffner, F.  et al. 2001	11439287				Necdin homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002487.2			CDC GDPinfo	4692	Hs.50130			International journal of obesity and related metabolic disorders. 2001 Jun;25(6):767-9	Systematic screening for mutations in the human necdin gene (NDN): identification of two naturallyoccurring polymorphisms and association analysis in body weight regulation.		602117	18539	2	2001	 Hence, it is unlikely that these polymorphisms play a major role in the emergence of juvenile onset human obesity.	Cohort extremely obese children and adolescents German 										
131502	Y	Norrie disease	OTHER	OTH	Deafness|Mental Retardation|Retinal Diseases|Retinopathy of Prematurity	X	Xp11.4	NDP	43692967	43717694		Shastry BS et al. 1997	9152134				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			KGB	4693	Hs.522615			Archives of ophthalmology. 1997 May;115(5):651-5	Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.		310600	4654	1	1997	 These findings suggest that mutations in the ND gene may play a role in the development of severe ROP in premature infants.											
131497		insulin-like growth factor-1; estrogen metabolism	NORMALVARIATION	NV	Breast Neoplasms	20	20q12	NCOA3	45564063	45719021		Jernstrom, H.  et al. 2001	11161840				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Molecular genetics and metabolism. 2001 Feb;72(2):144-54	Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1:implications for premenopausal breast cancer risk.		601937	25356	2	2001	Polymorphic variants in the CYP3A4, IGF1, and AIB1 genes are associated with increases in the plasma levels of IGF-I among oral contraceptive users and the variant alleles are much more common in black women than in white women. The high incidence of premenopausal breast cancer among black women may be mediated through genetic modifiers of circulating levels of IGF-I.	Cohort 503 nulligravid women between the ages of 17 and 35 										
131498		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	20	20q12	NCOA3	45564063	45719021		Haiman, C. A.  et al. 2003	12602902				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		601937	27806	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
131499		bipolar disorder	PSYCH	PSY	Bipolar Disorder	12	12q24	NCOR2	123374913	123617963		Shink, E.  et al. 2005	15635693				Nuclear receptor co-repressor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006312.2			CDC GDPinfo	9612	Hs.137510			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):2-Oct	Exclusion of non-synonymous SNPs and a polyglutamine tract in SMRT/N-CoR2 as common deleterious mutation for bipolar disorder in the Sagnenay-Lac-St-Jean population.		600848	18535	2	2005	Our data indicated no significant allelic/genotypic association between any of the five mutations and bipolar phenotype when they were considered either individually or as haplotypes. Finally, the CAG repeat observed in SMRT/N-CoR2 did not demonstrate allelic instability and consequently it is unlikely that this polymorphism could be involved in the anticipation phenomenon reported for BP.	Case:213 bipolar disorder cases:Quebec, Canada;Control:214:controls										
131494		obesity, localized	METABOLIC	MET	Breast Neoplasms|Obesity	20	20q12	NCOA3	45564063	45719021		Wasserman, L.  et al. 2003	14557830				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			International journal of obesity and related metabolic disorders. 2004 Jan;28(1):49-56	Correlates of obesity in postmenopausal women with breast cancer: comparison of genetic, demographic,disease-related, life history and dietary factors		601937	18889	2	2003	 Early age at menarche and a PROGINS A1/A1+AIB1 LG genetic pattern had comparable levels of association with obesity in this cross-sectional sample of postmenopausal women with breast cancer. Since this was a cross-sectional rather than a case-control design, the association between PROGINS and AIB1 genotype and obesity found in this sample should be considered preliminary, and must be re-evaluated with a new and larger sample.	Cohort 301 postmenopausal women with breast cancer 	alcohol diet family history menses physical activity smoking (tobacco) tamoxifen									
131495		quantitative calcaneal ultrasounds	OTHER	OTH	Body Weight	20	20q12	NCOA3	45564063	45719021		Patel, M. S.  et al. 2000	11092404				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Journal of bone and mineral research. 2000 Nov;15(11):2231-9	Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasound.		601937	23097	2	2000	This is the first demonstration of specific genetic effects on calcaneal QUS encoded by alleles of genes directly involved in mediating estrogen effects on bone.	Cohort 663 white women aged 18-35 years 										
131496		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	20	20q12	NCOA3	45564063	45719021		Hughes, D. J.  et al. 2005	15900600				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			International journal of cancer. Journal international du cancer. 2005 Nov;117(2):230-3	Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene.		601937	25355	2	2005	These results strongly suggest that contrary to previous studies, there is no significant effect of AIB1 genetic variation on BC risk in BRCA1 mutation carriers and provide an indication that there is also no strong risk modification in BRCA2 carriers.	Cohort 851/324 BRCA1 (n=851) and BRCA2 (n=32) female germline mutation carriers 										
131490		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasm Recurrence, Local	20	20q12	NCOA3	45564063	45719021			16365010				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2919-22	AIB1 polymorphisms predict aggressive ovarian cancer phenotype		601937	12668	2	2005	 These data suggest that short AIB1 genotypes may promote aggressive malignant phenotypes of epithelial ovarian cancer.											
131491	N	breast cancer	CANCER	CAN	Breast Neoplasms	20	20q12	NCOA3	45564063	45719021		Haiman CA  et al. 2000	11056690				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Breast cancer research. 2000 ;2(5):378-85	Polymorphic repeat in AIB1 does not alter breast cancer risk.		601937	18532	2	2000	AIB1 repeat genotype does not influence postmenopausal breast cancer risk among Caucasian women in the general population.	Case:464 cases nested within the Nurses' Health Study cohort;Control:624 controls from same population										
131492		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	20	20q12	NCOA3	45564063	45719021		Hsing, A. W.  et al. 2002	11927493				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1	Chinese	China	CDC GDPinfo	8202	Hs.592142			Cancer epidemiology, biomarkers & prevention. 2002 Apr;11(4):337-41	Polymorphic CAG/CAA repeat length in the AIB1/SRC-3 gene and prostate cancer risk: a population-basedcase-control study.		601937	18533	2	2002	Together, our data indicate that the CAG/CAA repeat length in the AIB1/SRC-3 gene may be associated with prostate cancer risk in Chinese men and that the combination of CAG/CAA repeat lengths in both the AIB1/SRC-3 and AR genes may provide a useful marker for clinically significant prostate cancer. Expanded studies in other populations are needed to confirm this association and the combined effect of AIB1/SRC-3 and other hormone-related genes in prostate cancer etiology.	Case:189 Chinese prostate cancer patients;Control:301 healthy controls										
131486	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11q23.1	NCAM1	112337204	112654368		Arai, M.  et al. 2004	15050861				Neural cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000615.4	Japanese	Japan	CDC GDPinfo	4684	Hs.503878			Biological psychiatry. 2004 Apr;55(8):804-10	Association of neural cell adhesion molecule 1 gene polymorphisms with bipolar affective disorder in Japanese individuals		116930	12665	2	2004	 Our results suggest that genetic variations in NCAM1 or nearby genes could confer risks associated with bipolar affective disorder in Japanese individuals.	Case:151/78 Japanese bipolar disorder patients (n=151) and unipolar disorder patients (n=78);Control:357 unrelated control individuals										
131487	Y	quantitative calcaneal ultrasound	OTHER	OTH	Body Weight	20	20q12	NCOA3	45564063	45719021		Patel MS et al. 2000	11092404				nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659			KGB	8202	Hs.382168			Journal of bone and mineral research. 2000 Nov;15(	Alleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene amplified in breast cancer-1 (AIB1) are associated with quantitative calcaneal ultrasound.		601937	6564	1	2000												
131489	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q12	NCOA3	45564063	45719021		Montgomery, K. G.  et al. 2005	15987430				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1	Australian	Australia	CDC GDPinfo	8202	Hs.592142			Breast cancer research. 2005 ;7(3):R353-6	The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women.		601937	12667	2	2005	 There was no evidence that risk of breast cancer depends on AIB1 CAG/CAA polymorphism status, even if affected women carry a mutation in BRCA1 or BRCA2.											
131482		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Festa, F.  et al. 2005	15914210				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		602667	27976	2	2005												
131483		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	8	8q21	NBN	91014739	91066075		Zienolddiny, S.  et al. 2005	16195237				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		602667	28307	2	2005												
131484		breast cancer	CANCER	CAN	Breast Neoplasms	8	8q21	NBN	91014739	91066075		Goode, E. L.  et al. 2002	12036913				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		602667	28350	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
131479		breast cancer	CANCER	CAN	Breast Neoplasms	8	8q21	NBN	91014739	91066075		Forsti, A.  et al. 2004	15010895				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4		Poland|Finland	CDC GDPinfo	4683	Hs.492208			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		602667	25354	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
131480		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	8	8q21	NBN	91014739	91066075			16343742				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		602667	27137	2	2005			smoking (tobacco)									
131481		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8q21	NBN	91014739	91066075		Sanyal, S.  et al. 2003	14688016				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		602667	27805	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
131474		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Kuschel, B.  et al. 2002	12023982				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Human molecular genetics. 2002 Jun;11(12):1399-407	Variants in DNA double-strand break repair genes and breast cancer susceptibility.		602667	19213	2	2002	These data provide some evidence that variants in XRCC2 and LIG4 alter breast cancer risk, together with stronger evidence that variants of XRCC3 are associated with risk. If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis.	Control:1826:controls;Case:2205 cases of breast cancer										
131476		breast cancer	CANCER	CAN	Breast Neoplasms	8	8q21	NBN	91014739	91066075		Millikan, R. C.  et al. 2005	16214912				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2326-34	Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.		602667	23095	2	2005			radiation									
131477		breast cancer	CANCER	CAN	Breast Neoplasms	8	8q21	NBN	91014739	91066075		Zhang, L.  et al. 2005	16002061				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Clinica chimica acta; international journal of clinical chemistry. 2005 Sep;359(2-Jan):150-5	Single nucleotide polymorphisms for DNA repair genes in breast cancer patients.		602667	23096	2	2005	 The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.											
131470		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Cybulski, C.  et al. 2004	14973119				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Cancer research. 2004 Feb;64(4):1215-9	NBS1 is a prostate cancer susceptibility gene.		602667	18528	2	2004	These findings suggest that heterozygous carriers of the NBS1 founder mutation exhibit increased susceptibility to prostate cancer and that the cancers that develop in the prostates of carriers are functionally homozygous for the mutation.	Control:1,500 control subjects;Case:56/305 patients with familial prostate cancer (n=56) and patients with nonfamilial prostate cancer (n=305):Poland										
131471		cancer; breast cancer	CANCER	CAN	Lymphoma, Non-Hodgkin|Melanoma|Colorectal Neoplasms|Skin Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Steffen, J.  et al. 2004	15185344				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	Polish	Poland	CDC GDPinfo	4683	Hs.492208			International journal of cancer. Journal international du cancer. 2004 Aug;111(1):67-71	Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland.		602667	18529	2	2004	These results suggest strongly that NBS1 heterozygosity may be associated with elevated risk of some cancers. Larger studies are needed to evaluate the impact of the high frequency of germline NBS1 mutations on the cancer burden in the Slav populations.	Case:1,289 consecutive patients from Central Poland with various cancers Central Poland;Control:1,620 control from the same region										
131473		leukemia, lymphoid; lymphoma	CANCER	CAN	Lymphoma	8	8q21	NBN	91014739	91066075		Chrzanowska, K. H.  et al. 2005	16152606				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	Polish		CDC GDPinfo	4683	Hs.492208			International journal of cancer. Journal international du cancer. 2006 Mar;118(5):1269-74	Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies.		602667	18531	2	2005												
131467		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Cerosaletti, K. M.  et al. 2002	12353271				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Genes, chromosomes & cancer. 2002 Nov;35(3):282-6	Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.		602667	18525	2	2002	These results suggest that mutations in NBS1 do not play a major role in the development of NHL in the United States.	Control:154 control individuals;Case:91 sporadic cases of non-Hodgkin lymphoma										
131468		breast cancer	CANCER	CAN	DNA Damage|Chromosome Deletion|Syndrome	8	8q21	NBN	91014739	91066075		Drabek, J.  et al. 2002	12505263				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	Czech	Germany|Czechoslovakia	CDC GDPinfo	4683	Hs.492208			Cancer genetics and cytogenetics. 2002 Oct;138(2):157-9	Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.		602667	18526	2	2002	Here, we present polymerase chain reaction with sequence specific primers as a method for the detection of Slavic NBS1 mutation and confirm the high carrier frequency in the Czech population	Cohort Czech population sample 										
131469		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Ovarian Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Gorski, B.  et al. 2003	12845677				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			International journal of cancer. Journal international du cancer. 2003 Sep;106(3):379-81	Germline 657del5 mutation in the NBS1 gene in breast cancer patients.		602667	18527	2	2003	It appears that the 657del5 mutation in exon 6 of the NBS1 gene is responsible for the occurrence of a small but significant proportion of familial breast cancer patients.	Case:150/80 patients with histologically confirmed breast cancer, diagnosed under the age of 50 (n=150) and breast cancer patients with a family history of breast cancer in their first-degree relatives:(n=80):Szczecin;Control:530 consecutive individuals without the diagnosis of breast cancer selected at random by family doctors										
131463		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Landi, S.  et al. 2005	16006997				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		243400	28538	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
131464		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	8	8q21	NBS1	91014734	91066075		Medina PP 2003	12917199	185Gln			Nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640816			KGB	4683	Hs.492208			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of homologous recombination gene polymorphisms in lung cancer patients reveals an association of the NBS1-185Gln variant and p53 gene mutations.		602667	4649	1	2003			smoking (tobacco)									
131465		malignant melanoma	CANCER	CAN	Melanoma|Breast Neoplasms|Skin Neoplasms	8	8q21	NBS1	91014734	91066075		Debniak T 2003	12883362				Nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640816		Poland	KGB	4683	Hs.492208			Melanoma research. 2003 Aug;13(4):365-70	Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.		602667	4650	1	2003												
131466		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Ovarian Neoplasms|Genetic Predisposition to Disease	8	8q21	NBS1	91014734	91066075		Gorski B 2003	12845677				Nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640816			KGB	4683	Hs.492208			International journal of cancer. Journal international du cancer. 2003 Sep;106(3):379-81	Germline 657del5 mutation in the NBS1 gene in breast cancer patients.		602667	4651	1	2003												
131460		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Sachse, C.  et al. 2002	12419832				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		England	CDC GDPinfo	10	Hs.2			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		243400	28348	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
131461		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	8	8p22	NAT2	18293034	18303003		Krajinovic, M.  et al. 2002	11895912				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		243400	28349	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
131462		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		De Jong, M. M.  et al. 2002	12433710				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		243400	28418	2	2002	Review article											
131457		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Esfandiary, H.  et al. 2005	15774926				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		243400	28093	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
131458		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Sturgis, E. M.  et al. 2002	11981277				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		243400	28177	2	2002	Review article											
131459		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	8	8p22	NAT2	18293034	18303003		Xing, D.  et al. 2003	12883749				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Chinese	China	CDC GDPinfo	10	Hs.2			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		243400	28306	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
131454		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Houlston, R. S.  et al. 2001	11487538				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		243400	27804	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
131455		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Wang, X.  et al. 2001	11520401				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		China	CDC GDPinfo	10	Hs.2			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		243400	27974	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
131456		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Garte, S.  et al. 2001	11751440				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		243400	27975	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
131452		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Skuladottir, H.  et al. 2005	15829318				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Denmark|Norway	CDC GDPinfo	10	Hs.2			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		243400	27802	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
131453	Y	breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Krajinovic, M.  et al. 2001	11291049				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Canadian	Canada|France	CDC GDPinfo	10	Hs.2			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		243400	27803	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
131448	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Wikman, H.  et al. 2002	11927838				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		243400	27573	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
131449		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Garcia-Closas, M.  et al. 2005	16112301				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		243400	27574	2	2005			smoking (tobacco)									
131450		1-hydroxypyrene, urinary	METABOLIC	MET	DNA Damage|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Leng, S. G.  et al. 2004	15355699			3'untranslated	N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua lao dong wei sheng zhi ye bing za zhi. 20	[Effect of genetic polymorphisms of microsomal epoxide hydrolase on urinary 1-hydroxypyrene levels in coke oven workers]		243400	27800	2	2004	 Genetic polymorphism of mEH gene could be a susceptible biomarker in coke oven workers which was involved in the individual susceptibility on metabolism of PAHs.	Case:148 workers from a coke oven plant;Control:69 controls without occupational PAHs exposure										
131445		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		8	8p22	NAT2	18293034	18303003		Chowbay, B.  et al. 2005	15931768				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		243400	27570	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
131446		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Ivashchenko, T. E.  et al. 2003	12760253				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		243400	27571	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
131447		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Tuominen, R.  et al. 2002	11967624				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		243400	27572	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
131442	N	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	8	8p22	NAT2	18293034	18303003		Chiu, B. C.  et al. 2005	15725081				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			British journal of haematology. 2005 Mar;128(5):610-5	Association of NAT and GST polymorphisms with non-Hodgkin's lymphoma: a population-basedcase-control study.		243400	27135	2	2005	In summary, although NAT1, NAT2, GSTM1, GSTT1, or GSTP1 polymorphisms do not appear to be associated with NHL risk overall, there might be gender-specific and subtype-specific associations that require confirmation.	Case:389 non-Hodgkin's lymphoma cases;Control:535 population-based controls										
131443		sleep disorders; schizophrenia; body mass	OTHER	OTH		8	8p22	NAT2	18293034	18303003		Sekine, A.  et al. 2001	11393533				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese		CDC GDPinfo	10	Hs.2			Journal of human genetics. 2001 ;46(6):314-9	Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.		243400	27136	2	2001	Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.	Cohort 48 healthy Japanese volunteers 										
131444		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		8	8p22	NAT2	18293034	18303003		Gaikovitch, E. A.  et al. 2003	12879168				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Russian		CDC GDPinfo	10	Hs.2			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		243400	27569	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
131439		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Pisani, P.  et al. 2002	11917213				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			European journal of cancer prevention. 2002 Feb;11(1):75-84	Cooking methods, metabolic polymorphisms and colorectal cancer		243400	27132	2	2002	Review article		diet smoking (tobacco)									
131440		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	8	8p22	NAT2	18293034	18303003		Kerridge, I.  et al. 2002	12139735				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		243400	27133	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
131441		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lincz, L. F.  et al. 2004	15136237				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Australian		CDC GDPinfo	10	Hs.2			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		243400	27134	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
131436	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p22	NAT2	18293034	18303003		Hung, R. J.  et al. 2004	15122594				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		243400	27129	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)									
131438		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	8	8p22	NAT2	18293034	18303003		Li, D.  et al. 2002	11719088				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		243400	27131	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
131433		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003			12018173				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Genetika. 2002 Apr;38(4):539-45	[Polymorphic genes of xenobiotic-metabolizing enzymes associated with bronchial asthma in genetically predisposed children]		243400	26466	2		The results obtained suggest an important role of xenobiotic-metabolizing enzymes in development of bronchial asthma.	Case children with bronchial asthma;Control healthy children	smoke (tobacco), passive									
131434		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Hel, O. L.  et al. 2005	16049806				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Netherlands	CDC GDPinfo	10	Hs.2			Cancer causes & control. 2005 Aug;16(6):675-81	Cumulative genetic defects in carcinogen metabolism may increase breast cancer risk (The Netherlands).		243400	26467	2	2005			smoking (tobacco)									
131435		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Tiemersma, E. W.  et al. 2004	15090717				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Dutch	Netherlands	CDC GDPinfo	10	Hs.2			Cancer causes & control. 2004 Apr;15(3):225-36	Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population.		243400	26468	2	2004	 In this Dutch population, unfavorable meat consumption and preparation habits did not increase colorectal adenoma risk, and these associations were not influenced by relevant genetic polymorphisms.	Case:431 adenoma cases The Netherlands;Control:433 polyp-free controls	meat									
131430		cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Ishiguro, A.  et al. 2005	15691505				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Analytical biochemistry. 2005 Feb;337(2):256-61	High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.		243400	26463	2	2005	To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.	Cohort 139 Japanese volunteers 										
131431		1-hydroxypyrene, urinary; 2-naphtol	METABOLIC	MET		8	8p22	NAT2	18293034	18303003		Kim, Y. D.  et al. 2003	14646291				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Journal of occupational health. 2003 May;45(3):160-7	Effects of genetic polymorphisms in metabolic enzymes on the relationships between 8-hydroxydeoxyguanosine levels in human leukocytes and urinary 1-hydroxypyrene and 2-naphthol concentrations.		243400	26464	2	2003	In conclusion, there is a significant correlation between the 8-OHdG level in leukocytes and the urinary 1-OHP concentration in the population not occupationally exposed to PAHs. This relationship is affected by genetic polymorphisms in PAH metabolic enzymes.	Cohort 105 healthy Korean males without occupational exposure to polycyclic aromatic hydrocarbons 	smoking (tobacco)									
131432		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	8	8p22	NAT2	18293034	18303003		Tuimala, J.  et al. 2002	12082022				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Hungary	CDC GDPinfo	10	Hs.2			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		243400	26465	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
131427	Y	cholangiocarcinoma	CANCER	CAN	Cholangiocarcinoma|Liver Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Prawan, A.  et al. 2005	15901993				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			European journal of cancer prevention. 2005 Jun;14(3):245-50	Association between genetic polymorphisms of CYP1A2, arylamine N-acetyltransferase 1 and 2 and susceptibility to cholangiocarcinoma.		243400	25350	2	2005	This study suggests that the NAT2 polymorphism may be a modifier of individual risk to CCA.	Case:216 cholangiocarcinoma cases;Control:233 control subjects										
131428		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Li, D.  et al. 2005	15987714				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Carcinogenesis. 2006 Jan;27(1):103-11	Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer1.		243400	25351	2	2005			smoking (tobacco)									
131429		multiple chemical sensitivity	PHARMACOGENOMIC	PHARM	Multiple Chemical Sensitivity|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		McKeown-Eyssen, G.  et al. 2004	15256524				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			International journal of epidemiology. 2004 Oct;33(5):971-8	Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1,PON2 and MTHFR.		243400	25352	2	2004	 A genetic predisposition for MCS may involve altered biotransformation of environmental chemicals. The CYP2D6 enzyme activates and inactivates toxins; the NAT2 enzyme bioactivates arylamines to protein-binding metabolites. A gene-gene interaction between CYP2D6 and NAT2 suggested that rapid metabolism for both enzymes may confer substantially elevated risk (OR = 18.7, P = 0.002). Our finding parallels others' observation of a link between PON1 heterozygosity and neurological symptoms in Gulf War syndrome. This first demonstration of genetic variation in drug-metabolizing enzymes in association with MCS requires replication. However, it suggests new research directions on genetically variable toxin pathways that might be important in MCS.	Control:162:controls;Case:203 female Caucasian multiple chemical sensitivity:cases										
131425	Y	cytogenetic studies	OTHER	OTH	Chromosome Aberrations	8	8p22	NAT2	18293034	18303003		Tuimala, J.  et al. 2004	15450429				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Mutation research. 2004 Oct;554(2-Jan):319-33	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: effects on levelsof sister chromatid exchanges and chromosomal aberrations		243400	25348	2	2004	Our results are in line with earlier findings on the influence of NAT2, GSTT1, and GSTM1 polymorphisms on the level of lymphocyte chromosome damage and suggest that also XRCC1 polymorphism affects CA frequencies, thus apparently influencing DNA repair phenotype. It remains to be examined whether these or other genetic polymorphisms could explain the observed cancer risk predictivity of high CA frequency.	Cohort 145/6 peripheral lymphocytes of 145 (CAs) and 60 (SCEs) healthy Caucasians 										
131426	Y	lung cancer	CANCER	CAN	Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Hou, S. M.  et al. 2001	11219770				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2001 Feb;10(2):133-40	Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.		243400	25349	2	2001	These findings suggest that the influence of NAT2 genotype on AL and MF and its interaction with GSTM1 genotype may be dose dependent. The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.	Control:152/144 controls (n=152, 155 ever smokers and 154 never smokers) analyzed for the HPRT mutant frequency and controls analyzed for aromatic DNA adduct level (n=144, 113 current/recent smokers and 201 former/never smokers);Case:157/170 cases of lung cancer analyzed for the HPRT mutant frequency (n=157) and cases of lung cancer analyzed for aromatic DNA adduct level (n=170)	smoking (tobacco)									
131421		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Le Marchand, L.   2002	12484238				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			IARC scientific publications. 2002 ;156:481-5	Meat intake, metabolic genes and colorectal cancer		243400	25344	2	2002	Thus, our data provide additional suppurt for the hypotheses that nitrosamines are carcinogenic to the rectum in humans and that red meat and particularly processed meats are significant sources of exposure for these compounds.	Case:727 Japanese, Caucasian or Native Hiwaiian colorectal cancer cases;Control:727 controls matched on sex, age and ethnicity	aspirin diet meat physical activity smoking (tobacco)									
131422	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Sorensen, M.  et al. 2005	15808404				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer letters. 2005 Apr;221(2):185-90	Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer.		243400	25345	2	2005	The NAT2 fast acetylator genotype seemed to be protective against lung cancer in light smokers (20 cigarettes/day).	Case:265 lung cancer cases identified from a population-based case-cohort study of 54,220;Control:272 individuals from a sub-cohort used for comparison	smoking (tobacco)									
131423		tuberculosis; esophageal cancer	CANCER	CAN	Tuberculosis|Esophageal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Adams, C. H.  et al. 2003	12747608				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	South African		CDC GDPinfo	10	Hs.2			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):600-5	Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence.		243400	25346	2	2003	These variants could therefore be associated with high cancer susceptibility. In addition, the high proportion of NAT2 "fast" alleles may partially explain the high tuberculosis prevalence in South Africans, due to reduced isoniazid efficacy in the presence of rapid acetylation	Cohort African population samples 										
131418	Y	bladder cancer; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Urinary Bladder Neoplasms|Neoplasms, Multiple Primary|Prostatic Hyperplasia|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Wang, C. Y.  et al. 2002	12552951				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Anticancer research. 2002 Nov-Dec;22(6B):3529-35	Correlation of the genotypes for N-acetyltransferases 1 and 2 with double bladder and prostate cancers in a case-comparison study.		243400	23091	2	2002	 Rapid NAT2 genotype correlated significantly with the development of double prostate-bladder cancer.	Case:17 double-cancer patients;Control:34 age-matched controls who had benign prostatic hypertrophy, but were asymptomatic for prostate or bladder cancer										
131419		bladder cancer	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Jaskula-Sztul, R.  et al. 2001	14564055				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Journal of applied genetics. 2001 ;42(2):223-31	Association of arylamine N-acetyltransferase (NAT1 and NAT2) genotypes with urinary bladder cancer risk.		243400	23092	2	2001	The coincidence of NAT1-fast/NAT2-slow appears as a potential risk factor for urinary bladder cancer (OR 1.5, 0.8-3.0), as compared with the other genotype combinations.	Control:320 healthy patients;Case:56 bladder cancer patients	smoking (tobacco)									
131420	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Costa, S.  et al. 2005	15717312				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Portugal	CDC GDPinfo	10	Hs.2			The Prostate. 2005 Aug;64(3):246-52	Acetylation genotype and the genetic susceptibility to prostate cancer in a southern European population.		243400	23093	2	2005	 Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.	Case:146 prostate cancer patients;Control:174 healthy ment										
131415		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Le Marchand, L.  et al. 2001	11751443				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1259-66	Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk.		243400	23088	2	2001	These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.	Case:349 patients with colorectal cancer:Oahu, Hawaii;Control:467 population controls	meat doneness smoking (tobacco)									
131416		breast cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Loktionov, A.  et al. 2002	12088198				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	South African	South Africa	CDC GDPinfo	10	Hs.2			Cancer detection and prevention. 2002 ;26(1):15-22	Differences in N-acetylation genotypes between Caucasians and Black South Africans: implicationsfor cancer prevention.		243400	23089	2	2002	The significant differences in N-acetylation genotypes can be among the factors determining a distinctive cancer morbidity and mortality pattern observed in Black South Africans. Both further genetic characterization of different populations and development of preventive strategies adopted for ethnicities with different genetic backgrounds are needed to deal adequately with the emerging health care problems in developing multiethnic societies.	Cohort 101 Black South Africans Cohort 112 UK Caucasians 										
131417	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	NAT2	18293034	18303003		Hein, D. W.  et al. 2002	12355549				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Environmental and molecular mutagenesis. 2002 ;40(3):161-7	Association of prostate cancer with rapid N-acetyltransferase 1 (NAT1*10) in combination with slow N-acetyltransferase 2 acetylator genotypes in a pilot case-control study.		243400	23090	2	2002	The results of this small pilot study suggest increased susceptibility to prostate cancer for subjects with combinations of NAT1*10 and slow (particularly very slow) NAT2 acetylator genotypes. This finding should be investigated further in larger cohorts and in other ethnic populations.	Case prostate cancer cases;Control hospital-based controls frequency -matched for age, race and referral pattern										
131412	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Cascorbi, I.  et al. 2001	11431340				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer research. 2001 Jul;61(13):5051-6	Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced riskin subjects with NAT1*10.		243400	23085	2	2001	our data suggest that individuals provided with NAT2*4 and NAT1*10 are at a significantly lower risk for bladder cancer, particularly when exposed to environmental risk factors.	Control:343 from same catchment area as patients and hospitalized because of a nonmalignant disease:Germany;Case:425 bladder cancer patients:Germany	smoking (tobacco)									
131413	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p22	NAT2	18293034	18303003		Gu, J.  et al. 2005	15725609				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Mutation research. 2005 Mar;581(2-Jan):97-104	Effects of N-acetyl transferase 1 and 2 polymorphisms on bladder cancer risk in Caucasians.		243400	23086	2	2005	Our data suggest that having a NAT2 slow acetylator genotype is a significant risk factor for BC, particularly in smokers and older individuals.	Case:507 Caucasian bladder cancer cases;Control:513 age-, gender-, and ethnicity-matched healthy:controls										
131409		cancer; HIV infection	CANCER	CAN	HIV Infections|Neoplasms|Disease Progression	8	8p22	NAT2	18293034	18303003		Williams, M. L.  et al. 2002	11865668				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Current opinion in drug discovery & development. 2002 Jan;5(1):144-9	Genotype/phenotype comparisons: a probe for theeffect of disease progression on drug metabolism		243400	23082	2	2002	Thus, polymorphic enzymes such as CYP2C19 and NAT2 can be used to probe changes in drug-metabolizing enzyme capacities. The development of genotype/phenotype discordances should reflect general changes in metabolic capabilities and, thus, alterations in the activities of other important enzymes such as CYP3A. The data also suggest that the genotype/phenotype probes can be used to optimize the clinical treatment of patients with advanced disease states.	Cohort HIV+/AIDS patients and patients with advanced cancer 										
131410		CYP3A4 activity	METABOLIC	MET		8	8p22	NAT2	18293034	18303003		Cavaco, I.  et al. 2003	12747609				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):606-9	CYP3A4*1B and NAT2*14 alleles in a native African population.		243400	23083	2	2003	The prevalence of these variants may be relevant with regard to therapeutic efficacy in African populations for it may potentially affect drug clearance and consequently, increase the incidence of side effects and drug-drug interactions.	Cohort a population from Guinea-Bissau Guinea-Bissau 										
131411		DNA strand breakage	OTHER	OTH	Colorectal Neoplasms|DNA Damage	8	8p22	NAT2	18293034	18303003		Kiss, I.  et al. 2000	11201682				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			European journal of cancer prevention. 2000 Dec;9(6):429-32	Allelic polymorphism of GSTM1 and NAT2 genes modifies dietary-induced DNA damage in colorectal mucosa		243400	23084	2	2000	Our study emphasizes the importance of using susceptibility markers in cancer epidemiology, since environmental effects are strongly modified by these genetic factors.	Cohort healthy volunteers 										
131406		2-Amino-1-methyl-6-phenylimidazo[4,5-b]pyridine	METABOLIC	MET	Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Moonen, H. J.  et al. 2004	15110095				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Food and chemical toxicology. 2004 Jun;42(6):869-78	CYP1A2 and NAT2 genotype/phenotype relations and urinary excretion of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) in a human dietary intervention study.		243400	23079	2	2004	Although the found correlations are driven primarily by a small number of subjects possessing the homozygous variant constellation, the strong influence of this genotype indicates that the CYP1A2*1F polymorphism could play an important role in human cancer risk susceptibility.	Cohort 71 human volunteers after consumption of either a high (7.4 ng/g) or low (1.7 ng/g) dose of PhIP 										
131407	Y	lung cancer	CANCER	CAN	Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Chiou, H. L.  et al. 2005	15890241				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer letters. 2005 Jun;223(1):93-101	NAT2 fast acetylator genotype is associated with an increased risk of lung cancer among never-smoking women in Taiwan.		243400	23080	2	2005	These results suggested never-smoking females with NAT2 fast acetylator were more prone to lung cancer and reflected the possibility that exposure to heterocyclic amines may contribute to the female lung cancer development in Taiwan.	Case:162 never-smoking lung cancer patients:Taiwan;Control:208 never-smoking non-cancer controls										
131408	Y	lung cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urologic Neoplasms	8	8p22	NAT2	18293034	18303003		Tsukino, H.  et al. 2003	14648207				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Japan	CDC GDPinfo	10	Hs.2			Journal of cancer research and clinical oncology. 2004 Feb;130(2):99-106	Cytochrome P450 (CYP) 1A2, sulfotransferase (SULT) 1A1, and N-acetyltransferase (NAT) 2 polymorphisms and susceptibility to urothelial cancer.		243400	23081	2	2003	 Our results suggest that SULT1A1 *1/*1 and NAT2 slow acetylator genotypes might modulate the effect of carcinogenic arylamines contained in tobacco smoke, and that the modulation of NAT2 intermediate and slow acetylator genotype has a tendency to present a higher risk for highly differentiated tumors among heavy-smokers.	Case:306 Japanese patients with urothelial transitional cell:carcinoma;Control:306 healthy controls	smoking (tobacco)									
131403		Alzheimer's disease; asthma	METABOLIC	MET		8	8p22	NAT2	18293034	18303003			14582397				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Genetika. 2003 Sep;39(9):1268-74	[Polymorphism of genes for xenobiotic metabolism in petrochemical workers]		243400	23076	2	2003	There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, in the corresponding industrial subgroup a clear trend towards lower frequency of rapid acetylators was demonstrated. In addition, the odds ratio of the disease development for the workers with slow acetylator phenotype was 1.7.	Control:controls;Case petrochemical workers occupationally exposed to adverse action of chemical compounds	petrochemicals									
131404	Y	urinary mutagenicity	UNKNOWN	UNK		8	8p22	NAT2	18293034	18303003		Pavanello, S.  et al. 2002	12067576				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Food and chemical toxicology. 2002 Aug;40(8):1139-44	Role of metabolic polymorphisms NAT2 and CYP1A2 on urinary mutagenicity after a pan-fried hamburger meal		243400	23077	2	2002	In conclusion, this study indicates that CYP1A2 and NAT2 activities influence the presence of urinary mutagens after a meal of pan-fried hamburger (rich in HHAs) and consequently their potential genotoxic risk.	Cohort 50 subjects tested after a meal of pan-fried hamburger 	meat consumption									
131405		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p22	NAT2	18293034	18303003		Gago-Dominguez, M.  et al. 2003	12663508				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Carcinogenesis. 2003 Mar;24(3):483-9	Permanent hair dyes and bladder cancer: riskmodification by cytochrome P4501A2 and N-acetyltransferases 1 and 2.		243400	23078	2	2003	Frequency- and duration-related dose-response relationships confined to CYP1A2 'slow' individuals were all positive and statistically significant. No such associations were noted among CYP1A2 'rapid' individuals. Among lifelong non-smoking women, individuals exhibiting the non-NAT1*10 genotype showed a statistically significant increase in bladder cancer risk	Case:159 bladder cancer cases of the Los Angeles Bladder Cancer Study;Control:164:controls	hair dye									
131400		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lash, T. L.  et al. 2005	15987434				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Breast cancer research. 2005 ;7(3):R385-93	A case-only analysis of the interaction between N-acetyltransferase 2 haplotypes and tobacco smoke in breast cancer etiology.		243400	18521	2	2005	 In this, the largest case-only study to evaluate the interaction between acetylation status and active or passive exposure to tobacco smoke, we found little evidence to support the idea of a departure from multiplicativity.		smoking (tobacco)									
131401	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	8	8p22	NAT2	18293034	18303003		Machida, H.  et al. 2005	16097053				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese		CDC GDPinfo	10	Hs.2			World journal of gastroenterology. 2005 Aug;11(31):4833-7	Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.		243400	18523	2	2005	 It is likely that the NAT2 gene is one of the determinants for CD in Japanese. Alternatively, a new CD determinant may exist in the 8p22 region, where NAT2 is located.											
131402	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Gao, J. P.  et al. 2003	12680328				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua nan ke xue. 2003 Feb;9(1):32-5	[Relationship between genetic polymorphisms of metabolizing enzymes and prostate cancer]		243400	23075	2	2003	 The CYP1A1 Ile-Val gene polymorphisms might be associated with the occurrence of prostate cancer, while MspI gene polymorphisms and NAT2 slow acetylator genotype might not be associated with the occurrence of prostate cancer.	Control:112 healthy cases selected as the control randomly;Case:48 patients with prostate cancer										
131397		lung cancer	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Osborne, A.  et al. 2003	14994828				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Biochemical genetics. 2003 Dec;41(12-Nov):405-11	A rapid method of screening for N-acetyltransferase (NAT2) phenotype by use of the WAVE DNA fragment analysis system		243400	18516	2	2003	All 126 samples analyzed by both RFLP and Wave analysis gave consistent phenotype results and 100% correlation was achieved between the two methods.	Cohort 126 samples 										
131398		laryngeal cancer	CANCER	CAN		8	8p22	NAT2	18293034	18303003			15612575				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		CDC GDPinfo	10	Hs.2			Genetika. 2004 Nov;40(11):1557-61	[Restriction analysis of N-acetyltransferase 2 gene in Caucasian population of West Siberia]		243400	18518	2	2004	The frequencies of these mutations did not significantly differ from the frequencies reported for Caucasian populations of other countries. In 79 patients with lung cancer, a region of the NAT2 gene that includes 29.7% of the coding sequence was analyzed for the new mutations by the RFLP analysis. No new mutations were found in this group.	Cohort 109 healthy Caucasians West Siberia Cohort 79 lung cancer patients 										
131399		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lilla, C.  et al. 2005	15743503				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	German	Germany	CDC GDPinfo	10	Hs.2			Breast cancer research. 2005 ;7(2):R229-37	SULT1A1 genotype, active and passive smoking, and breast cancer risk by age 50 years in a German case-control study.		243400	18520	2	2005	 We found no evidence that the SULT1A1 genotype in itself modifies breast cancer risk associated with smoking in women up to age 50 years. In combination with NAT2 fast acetylator status, however, the SULT1A1*1/*1 genotype might increase breast cancer risk in women exposed to tobacco smoke.	Case:419 patients who had developed breast cancer by age 50:Germany;Control:884 age-matched controls	smoking (tobacco)	NAT2		SULT1A1	*1/*1			Y	smoking (tobacco)	breast cancer
131394		urothelial cancer	CANCER	CAN	Urologic Neoplasms	8	8p22	NAT2	18293034	18303003		Ozawa, S.  et al. 2002	12402313				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese	Japan	CDC GDPinfo	10	Hs.2			International journal of cancer. Journal international du cancer. 2002 Dec;102(4):418-21	Association of genotypes of carcinogen-activating enzymes, phenol sulfotransferase SULT1A1 (ST1A3) and arylamine N-acetyltransferase NAT2, with urothelial cancer in a Japanese population.		243400	18511	2	2002	Combined analyses of different alleles of carcinogenic aromatic amine-activating phase II enzymes were applied to urothelial cancer risk for the first time and showed the highest risk combination of ST1A3 and NAT2 alleles.	Case urothelial epithelial cancer patients;Control:controls	smoking (tobacco)	ST123A3		NAT2				Y		urothelial cancer
131395	Y	sulfasalazine, adverse effects of	IMMUNE	IMM	Arthritis, Rheumatoid	8	8p22	NAT2	18293034	18303003		Tanaka, E.  et al. 2002	12465141				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese		CDC GDPinfo	10	Hs.2			The Journal of rheumatology. 2002 Dec;29(12):2492-9	Adverse effects of sulfasalazine in patients with rheumatoid arthritis are associated with diplotype configuration at the N-acetyltransferase 2 gene		243400	18512	2	2002	 Genotyping the NAT2 gene followed by estimation of diplotype configuration before administration of SSZ is likely to reduce the frequency of adverse effects in Japanese patients with RA.	Cohort 144 patients with rheumatoid arthirtis who had been treated with sulfasalzine 										
131396	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Costa, S.  et al. 2002	12474054				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Journal of cancer research and clinical oncology. 2002 Dec;128(12):678-82	A slow acetylator genotype associated with an increased risk of advanced cervical cancer.		243400	18513	2	2002	 The results reported in this study suggest that NAT2 polymorphism is a genetic susceptibility factor involved in the carcinogenesis of cervical cancer, and also that the analysis of the allelic profile of populations in different geographic locations may help to understand the incidence of cervical cancer worldwide.	Case:125 women with advanced cervical cancer;Control:170 healthy women										
131391		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Belogubova, E. V.  et al. 2005	15808403				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer letters. 2005 Apr;221(2):177-83	'Comparison of extremes' approach provides evidence against the modifying role of NAT2 polymorphism in lung cancer susceptibility.		243400	12662	2	2005	Similar distribution of NAT2 acetylator genotypes both in tumor-prone and in tumor-resistant groups suggests that, despite the presence of NAT2 carcinogenic substrates in tobacco smoke, NAT2 polymorphism does not play a noticeable role in lung cancer susceptibility.	Case:178 lung cancer cases;Control:364/351 healthy donors (n=364) and subjects with a putative cancer-resistant constitution (elderly tumor-free smokers and non-smokers (ED), n=351)	smoking (tobacco)									
131392		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Habalova, V.  et al. 2005	16151580				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Slovakia	CDC GDPinfo	10	Hs.2			Neoplasma. 2005 ;52(5):364-8	A pilot study testing the genetic polymorphism of N-acetyltransferase 2 as a risk factor in lung cancer.		243400	12664	2	2005	Genotype responsible for slow acetylation (NAT2*5B/*6) was observed significantly more frequently in lung cancer patients with squamous cell carcinoma compared with control subjects		smoking (tobacco)									
131393	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Frazier, M. L.  et al. 2001	11245417				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Cancer research. 2001 Feb;61(4):1269-71	Age-associated risk of cancer among individuals with N-acetyltransferase 2 (NAT2) mutations and mutations in DNA mismatch repair genes		243400	18505	2	2001	These findings suggest that NAT2 genotype may be an important factor in tumorigenesis of CRC and cancers related to hereditary nonpolyposis CRC among individuals with mismatch repair defects.	Cohort 86 individuals with CRC who had mutations in hMLH1, hMSH2, or hPMS1 										
131388		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	8	8p22	NAT2	18293034	18303003			12884528				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Bashkiria	CDC GDPinfo	10	Hs.2			Genetika. 2003 Jun;39(6):855-7	[Analysis of the N-acetyltransferase 2 gene polymorphism in the patients with chronic obstructive pulmonary disease and in populations of the Volga-Ural region]		243400	12653	2	2003	The data obtained suggest a possible association between the drug resistance in the COPD patients with the rapid acetylator phenotype, which can lead to the development of the chronic form of the disease.	Case patients with chronic obstructive pulmonary disease Volga-Ural region, Russia;Control healthy individuals										
131389		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Tiemersma, E. W.  et al. 2004	14618622				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			International journal of cancer. Journal international du cancer. 2004 Jan;108(1):97-103	Effect of SULT1A1 and NAT2 genetic polymorphism on the association between cigarette smoking and colorectal adenomas.		243400	12655	2	2004	We conclude that  smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.	Case:431 colorectal adenoma cases The Netherlands:1997 - 2000;Control:432 polyp-free controls	alcohol diet smoking (tobacco)									
131390	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Hao, G. Y.  et al. 2004	15312364				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 May;26(5):283-6	[Relationship between genetic polymorphism of NAT2 and susceptibility to urinary bladder cancer]		243400	12657	2	2004	 The results suggest that NAT2 genetic polymorphism is associated with bladder cancer susceptibility. People with NAT2 slow genotype have higher bladder cancer risk.	Case:69 patients with bladder transitional cell carcinoma;Control:88 healthy controls	smoking (tobacco)									
131385		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	8	8p22	NAT2	18293034	18303003		Mrozikiewicz PM 2004	7995004				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			Y Wang	10	Hs.2			Clinical pharmacology and therapeutics. 1994 Dec;56(6 Pt 1):626-34	Polymorphic arylamine N-acetyltransferase (NAT2) genes in children with insulin-dependent diabetes mellitus.		243400	52	1	2004												
131386	Y	laryngeal cancer	CANCER	CAN	Laryngeal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lei, D.  et al. 2002	12015038				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2002 Mar;24(2):154-6	[Relationship between polymorphism of N-acetyltransferase 2 and genetic susceptibility to laryngeal carcinoma]		243400	12646	2	2002	 NAT2 slow genotype increases the risk of susceptibility to laryngeal carcinoma. The combined effect of NAT2 slow genotype and exposure to smoking is observed during the development of laryngeal cancer.	Control:56:controls;Case:62 laryngeal carcinoma patients	smoking (tobacco)									
131387		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Gao, J. P.  et al. 2003	12546735				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua gan zang bing za zhi. 2003 Jan;11(1):20-2	[Relationship between genetic polymorphisms of N-acetyltransferase and susceptibility to hepatocellular carcinoma]		243400	12649	2	2003	 The smokers with slow acetylation genotype of N-acetyltransferase 2 may be the population with high risk for hepatocellular carcinoma.	Control:112 healthy controls;Case:78 patients with hepatocellular carcinoma	smoking (tobacco)									
131381		smoking	CANCER	CAN	Rectal Neoplasms	8	8p22	NAT2	18293034	18303003		Slattery ML 2003	14504199				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		California|Utah	KGB	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):882-9	Associations between smoking, passive smoking~~~ GSTM-1~~~ NAT2~~~ and rectal cancer.		243400	48	1	2003												
131382		breast cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003		Lee KM 2003	12860276				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KGB	10	Hs.2			Cancer letters. 2003 Jul;196(2):179-86	N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1~~~ GSTT1) polymorphisms in breast cancer.		243400	49	1	2003												
131384		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Scleroderma, Systemic	8	8p22	NAT2	18293034	18303003		von Schmiedeberg S 1999	10599336				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			Y Wang	10	Hs.2			Advances in experimental medicine and biology. 1999 ;455:147-52	Polymorphisms of the xenobiotic-metabolizing enzymes CYP1A1 and NAT-2 in systemic sclerosis and lupus erythematosus.		243400	51	1	1999												
131378	Y	Urinary Bladder Cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	p=0.012	Cascorbi I 2001	11431340	*4			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	German		TJB	10	Hs.2			Cancer research. 2001 Jul;61(13):5051-6	Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced riskin subjects with NAT1*10.		243400	45	1	2001	our data suggest that individuals provided with NAT2*4 and NAT1*10 are at a significantly lower risk for bladder cancer, particularly when exposed to environmental risk factors.	Control:343 from same catchment area as patients and hospitalized because of a nonmalignant disease:Germany;Case:425 bladder cancer patients:Germany	smoking (tobacco)									
131379	N	xenobiotic metabolism	METABOLIC	MET		8	8p22	NAT2	18293034	18303003	n	Makarova OV 2003	14582397				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Russian petrochemical workers		KGB	10	Hs.2			Genetika. 2003 Sep;39(9):1268-74	[Polymorphism of genes for xenobiotic metabolism in petrochemical workers]		243400	46	1	2003	There were no substantial differences between the industrial and control groups with respect to the frequencies of rapid and slow acetylator genotypes revealed at the analysis of the NAT2 gene polymorphism. However, considering the concomitant diseases, in the corresponding industrial subgroup a clear trend towards lower frequency of rapid acetylators was demonstrated. In addition, the odds ratio of the disease development for the workers with slow acetylator phenotype was 1.7.	Control:controls;Case petrochemical workers occupationally exposed to adverse action of chemical compounds	petrochemicals									
131380		smoking	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Tiemersma EW 2003	14618622				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KGB	10	Hs.2			International journal of cancer. Journal international du cancer. 2004 Jan;108(1):97-103	Effect of SULT1A1 and NAT2 genetic polymorphism on the association between cigarette smoking and colorectal adenomas.		243400	47	1	2004	We conclude that  smoking increases risk of colorectal adenomas and that SULT1A1 and NAT2 only modestly modify this association.	Case:431 colorectal adenoma cases The Netherlands:1997 - 2000;Control:432 polyp-free controls	alcohol diet smoking (tobacco)									
131374	Y	asbestos-associated pulmonary disorders	OTHER	OTH	Lung Diseases|Lung Neoplasms|Occupational Diseases|Disease Susceptibility	8	8p22	NAT2	18293034	18303003		Hirvonen A et al. 1996	8961976				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Finland	KGB	10	Hs.2			Journal of the National Cancer Institute. 1996 Dec;88(24):1853-6	Glutathione S-transferase and N-acetyltransferase genotypes and asbestos-associated pulmonary disorders.		243400	41	1	1996	 Individuals with homozygous deletion of the GSTM1 gene and a NAT2 slow-acetylator genotype who are exposed to high levels of asbestos appear to have enhanced susceptibility to asbestos-related pulmonary disorders.											
131376	N	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Chromosome Deletion	8	8p22	NAT2	18293034	18303003	n	Hubbard AL 1997	9301503				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Gut. 1997 Aug;41(2):229-34			243400	43	1	1997	 NAT2 does not play a major role in colorectal cancer risk, but may influence risk in some age groups. The nature of the loss of heterozygosity at the chromosome 8p site is complex and is worthy of further study.	Case:275; Control:343										
131377		Bladder Cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p22	NAT2	18293034	18303003		Vineis P 2001	11751441	NAT2 polymorphism			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	European Caucasian	Germany|England	TJB	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1249-52			243400	44	1	2001		Case:1530; Control:731										
131371	Y	plasma glucose concentration	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p22	NAT2	18293034	18303003		Hegele RA et al. 2000	10803679				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Ontario	KGB	10	Hs.2			Pharmacogenetics. 2000 Apr;10(3):233-8	NAT2 polymorphism associated with plasma glucose concentration in Canadian Oji-Cree.		243400	38	1	2000												
131372	Y	breast cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003		Chang-Claude J et al. 2002	12163321				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KGB	10	Hs.2	passive smoke exposure		Cancer epidemiology, biomarkers & prevention. 2002 Aug;11(8):698-704	Differential effect of NAT2 on the association between active and passive smoke exposure and breast cancer risk.		243400	39	1	2002	 Our results suggest that the NAT2 status has a differential effect on the association of active and passive smoking with breast cancer and demonstrate the need to consider possible different mechanisms associated with exposure to main- and sidestream tobacco smoke.											
131373	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	8	8p22	NAT2	18293034	18303003		Tanaka E et al. 2002	12465141				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KGB	10	Hs.2			The Journal of rheumatology. 2002 Dec;29(12):2492-9	Adverse effects of sulfasalazine in patients with rheumatoid arthritis are associated with diplotype configuration at the N-acetyltransferase 2 gene		243400	40	1	2002	 Genotyping the NAT2 gene followed by estimation of diplotype configuration before administration of SSZ is likely to reduce the frequency of adverse effects in Japanese patients with RA.	Cohort 144 patients with rheumatoid arthirtis who had been treated with sulfasalzine										
131367	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	p=0.00003	Bandmann O 2000	10634239	Wild type allele 4			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		TJB	10	Hs.2			Movement disorders. 2000 Jan;15(1):30-5			243400	34	1	2000												
131369	Y	Breast Cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	p=0.0053	Pfau W 1998	9829711				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 1998 Nov;7(11):1019-25			243400	36	1	1998												
131370	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Kocher T et al. 2002	11846845				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KGB	10	Hs.2			Journal of clinical periodontology. 2002 Jan;29(1):21-7	Association between bone loss in periodontal disease and polymorphism of N-acetyltransferase (NAT2).		243400	37	1	2002	 The data suggest that the slow acetylator phenotype may be associated with a higher risk of periodontitis, especially in smokers. Possible explanations regarding the mechanism are discussed; however, such attempts are highly speculative at this time.											
131363		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Makarova 2000	11022254	NAT2*5			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			KCB	10	Hs.2			Bulletin of experimental biology and medicine. 2000 Jun;129(6):575-7			243400	30	1	2000												
131365	N	Human Longevity	AGING	AGE		8	8p22	NAT2	18293034	18303003	n	Muiras ML 1998	9654200	NAT2*5A (C481T). NAT2*6A (G590A). NAT2*7A (G857A). and NAT2*14A (G191A)			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Centenarian		KGB	10	Hs.2			Human genetics. 1998 May;102(5):526-32			243400	32	1	1998												
131366	Y	Haematological Neoplasias	CANCER	CAN	Hematologic Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lemos MC 1999	10383893	Mutated allele NAT2* 5A. *5B. *5C. *6. and *7			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Carcinogenesis. 1999 Jul;20(7):1225-9			243400	33	1	1999		Case:160; Control:128										
131359		Breast Cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Huang CS 1999	10389748	NAT2 slow allele ?????			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Chinese and Taiwanese	China|Taiwan	TJB	10	Hs.2			International journal of cancer. Journal international du cancer. 1999 Jul;82(2):175-9			243400	26	1	1999		Case:150; Control:150										
131361	Y	Lung Cancer	CANCER	CAN	Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Bouchardy C 1998	9731715	*4. *5. *6. and *7			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	French Caucasian		TJB	10	Hs.2			Pharmacogenetics. 1998 Aug;8(4):291-8			243400	28	1	1998		Case:150; Control:172										
131362	N	Diabetes Mellitus	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p22	NAT2	18293034	18303003	n	Agundez JA 1996	8946479	NAT2 polymorphisms ?????			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		TJB	10	Hs.2			Pharmacogenetics. 1996 Oct;6(5):465-72			243400	29	1	1996		Case:111; Control:217										
131355		Cigarette Smoking- Related Bladder Cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Hsieh FI 1999	10507782	NAT2 slow allele			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Taiwanese	Taiwan	TJB	10	Hs.2			British journal of cancer. 1999 Oct;81(3):537-41			243400	22	1	1999		Case:74; Control:184										
131357	Y	Endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Nakago S 2001	11675475	NAT2 *5. *6. and *7 from the wild- type NAT2*4 allele			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	United Kingdom	Great Britain	TJB	10	Hs.2			Molecular human reproduction. 2001 Nov;7(11):1079-83			243400	24	1	2001												
131358	Y	Contact Sensitisation	IMMUNE	IMM	Dermatitis, Contact	8	8p22	NAT2	18293034	18303003	p=0.042	Westphal GA 2000	10848734	NAT2*4, *5a,*5b, *5c, *6a, 7b and *12a	decreased enzyme activity	coding sequence	N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		TJB	10	Hs.2			The British journal of dermatology. 2000 Jun;142(6):1121-7	N-Acetyltransferases 1 and 2 polymorphisms in para-substituted arylamine-induced contact allergy		243400	25	1	2000		Case:88; Control:123										
131351	N	Colon Cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	n	Kampman E 1999	9950235				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	United States	United States	TJB	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 1999 Jan;8(1):15-24			243400	18	1	1999												
131353	N	Breast Cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003	n	Delfino RJ 2000	10753193				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Carcinogenesis. 2000 Apr;21(4):607-15			243400	20	1	2000	There was no interaction between NAT2 and HAAs. These findings do not support a role for HAAs from meat or NAT2 in the etiology of breast cancer. Further research is needed to explain the white meat association.	Case:114; Control:280										
131354	Y	Cell Cancer	CANCER	CAN	Neoplasms, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	p=0.055	Chen C 2001	11751430	NAT2 polymorphisms			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Carcinogenesis. 2001 Dec;22(12):1993-9			243400	21	1	2001		Case:341; Control:552										
131348		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Landi, S.  et al. 2005	16006997				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		108345	28523	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
131349		Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Le Marchand L 2001	11751443	NAT2 rapid phenotype			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Oahu. Hawaii		TJB	10	Hs.2			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1259-66	Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk.		243400	16	1	2001	These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.	Case:349 patients with colorectal cancer:Oahu, Hawaii;Control:467 population controls	meat doneness smoking (tobacco)									
131350		Bladder Cancer	CANCER	CAN	Tuberculosis|Urinary Bladder Neoplasms|Asthma	8	8p22	NAT2	18293034	18303003		Kim WJ 2000	10840461				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Korean		TJB	10	Hs.2			The Journal of urology. 2000 Jul;164(1):209-13			243400	17	1	2000	 Among Korean subjects, GSTM1 null genotype was a significant risk factor for bladder cancer. The reason why bronchial asthma and tuberculosis are risk factors in Korean subjects is yet unknown, but a variety of factors, including enzyme activities for detoxification, medication for these diseases and immunological background might be involved.	Case:221; Control:113										
131344		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Malats, N.   2001	12120227				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		108345	27799	2	2001	Review article		alcohol smoking (tobacco)									
131345		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Sturgis, E. M.  et al. 2002	11981277				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		108345	28092	2	2002	Review article											
131347		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		De Jong, M. M.  et al. 2002	12433710				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		108345	28385	2	2002	Review article											
131341		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Garcia-Closas, M.  et al. 2005	16112301				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Lancet. 2005 Aug;366(9486):649-59	NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the SpanishBladder Cancer Study and meta-analyses.		108345	27128	2	2005			smoking (tobacco)									
131342	Y	breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Krajinovic, M.  et al. 2001	11291049				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Canadian	Canada|France	CDC GDPinfo	9	Hs.591847			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		108345	27567	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
131343		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Houlston, R. S.  et al. 2001	11487538				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		108345	27568	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
131338	N	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	8	8p23.1-p21.3	NAT1	18111894	18125100		Chiu, B. C.  et al. 2005	15725081				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			British journal of haematology. 2005 Mar;128(5):610-5	Association of NAT and GST polymorphisms with non-Hodgkin's lymphoma: a population-basedcase-control study.		108345	26461	2	2005	In summary, although NAT1, NAT2, GSTM1, GSTT1, or GSTP1 polymorphisms do not appear to be associated with NHL risk overall, there might be gender-specific and subtype-specific associations that require confirmation.	Case:389 non-Hodgkin's lymphoma cases;Control:535 population-based controls										
131339		sleep disorders; schizophrenia; body mass	OTHER	OTH		8	8p23.1-p21.3	NAT1	18111894	18125100		Sekine, A.  et al. 2001	11393533				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Japanese		CDC GDPinfo	9	Hs.591847			Journal of human genetics. 2001 ;46(6):314-9	Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.		108345	26462	2	2001	Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.	Cohort 48 healthy Japanese volunteers 										
131340	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Wikman, H.  et al. 2002	11927838				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		108345	27127	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
131335		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Pisani, P.  et al. 2002	11917213				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			European journal of cancer prevention. 2002 Feb;11(1):75-84	Cooking methods, metabolic polymorphisms and colorectal cancer		108345	26458	2	2002	Review article		diet smoking (tobacco)									
131336		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	8	8p23.1-p21.3	NAT1	18111894	18125100		Kerridge, I.  et al. 2002	12139735				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			British journal of haematology. 2002 Aug;118(2):477-81	Association between xenobiotic gene polymorphisms and non-Hodgkin's lymphoma risk.		108345	26459	2	2002	We conclude that  the two polymorphisms, GSTT1 null and PON1 BB, are common genetic traits that pose low individual risk but may be important determinants of overall population NHL risk, particularly among groups exposed to NHL-related carcinogens.	Case:169 individuals with non-Hodgkin's lymphoma;Control:205 normal controls										
131337		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Lincz, L. F.  et al. 2004	15136237				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Australian		CDC GDPinfo	9	Hs.591847			Haematologica. 2004 May;89(5):628-9	Xenobiotic gene polymorphisms and susceptibility to multiple myeloma.		108345	26460	2	2004	In a case-control study, 90 Australian Caucasians with MM had significantly higher incidences of GST T1 null, PON1 BB and NAT2 slow acetylation genotypes, but no difference in polymorphism frequencies for GST M1, NAT1, and CYP1A1 when compared to 205 controls.	Control:205:controls;Case:90 Australian Caucasians with multiple myeloma:Australia										
131332		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Little, J.  et al. 2002	11917217				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4		United States	CDC GDPinfo	9	Hs.591847			European journal of cancer prevention. 2002 Feb;11(1):105-10	Colorectal neoplasia and genetic polymorphisms associated with folate metabolism		108345	25343	2	2002	Review article		folate									
131333		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|DNA Damage	8	8p23.1-p21.3	NAT1	18111894	18125100		Li, D.  et al. 2002	11719088				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Mutation research. 2002 Jan;513(2-Jan):37-48	DNA adducts, genetic polymorphisms, and K-ras mutation in human pancreatic cancer		108345	26456	2	2002	No significant correlation was found between the level of 8-OH-dG and the MnSOD, GSTM1, and hOGG1 polymorphisms. However, one novel polymorphism/mutation of the hOGG1 gene was found in a pancreatic tumor. Mutation at codon 12 of the K-ras gene was found in 25 (81%) of 31 pancreatic tumors, including three G-to-A transitions and 22 G-to-T transversions. Patients with the G-to-T mutation had a significantly higher level of aromatic DNA adducts than those with G-to-A or wild-type codon (P=0.02). On the other hand, the K-ras mutation profile was not related to the level of 8-OH-dG. Given the limitation of sample size, these preliminary data lend further support the hypothesis that carcinogen exposure and oxidative stress are involved in pancreatic carcinogenesis.	Control:24 normal pancreatic tissue samples from organ donors;Case:31 pancreatic tumors from patients with pancreatic:cancer;Control:5 tissue samples from petiens with chronic:pancreatitis;Control:6 tissues samples from non-pancreatic cancers:patients										
131334		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Leng, S.  et al. 2004	15466980				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1631-9	Effects of Genetic Polymorphisms of Metabolic Enzymes on Cytokinesis-Block Micronucleus in Peripheral Blood Lymphocyte among Coke-Oven Workers		108345	26457	2	2004	These results indicate that the mEH, GSTP1, and GSTM1 polymorphisms may play a role in sensitivity or genetic susceptibility to the genotoxic effects of PAH exposure in the coke-oven workers.	Case:141 coke-oven workers;Control:66 non-coke-oven worker controls	polycyclic aromatic hydrocarbons									
131329		congenital anomalies; cleft lip with or without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Grunert, R. R.  et al. 2002	12143122				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Mund-, Kiefer- und Gesichtschirurgie. 2002 May;6(3):131-3	[Genetic differences in enzymes of folic acid metabolism in patients with lip-jaw-palate clefts and their relatives]		108345	23074	2	2002	Our results provide no evidence that the above MTHFR gene mutations are a risk factor for CLP.A NAT1 gene mutation instead could be a risk factor for CLP.	Case:66 CLP patients;Control:88:relatives										
131330		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Hel, O. L.  et al. 2005	16049806				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4		Netherlands	CDC GDPinfo	9	Hs.591847			Cancer causes & control. 2005 Aug;16(6):675-81	Cumulative genetic defects in carcinogen metabolism may increase breast cancer risk (The Netherlands).		108345	25341	2	2005			smoking (tobacco)									
131331		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Tiemersma, E. W.  et al. 2004	15090717				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Dutch	Netherlands	CDC GDPinfo	9	Hs.591847			Cancer causes & control. 2004 Apr;15(3):225-36	Risk of colorectal adenomas in relation to meat consumption, meat preparation, and genetic susceptibility in a Dutch population.		108345	25342	2	2004	 In this Dutch population, unfavorable meat consumption and preparation habits did not increase colorectal adenoma risk, and these associations were not influenced by relevant genetic polymorphisms.	Case:431 adenoma cases The Netherlands;Control:433 polyp-free controls	meat									
131326		cholangiocarcinoma	CANCER	CAN	Cholangiocarcinoma|Liver Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Prawan, A.  et al. 2005	15901993				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			European journal of cancer prevention. 2005 Jun;14(3):245-50	Association between genetic polymorphisms of CYP1A2, arylamine N-acetyltransferase 1 and 2 and susceptibility to cholangiocarcinoma.		108345	23071	2	2005	This study suggests that the NAT2 polymorphism may be a modifier of individual risk to CCA.	Case:216 cholangiocarcinoma cases;Control:233 control subjects										
131327		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Li, D.  et al. 2005	15987714				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Carcinogenesis. 2006 Jan;27(1):103-11	Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer1.		108345	23072	2	2005			smoking (tobacco)									
131328		multiple chemical sensitivity	PHARMACOGENOMIC	PHARM	Multiple Chemical Sensitivity|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		McKeown-Eyssen, G.  et al. 2004	15256524				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			International journal of epidemiology. 2004 Oct;33(5):971-8	Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1,PON2 and MTHFR.		108345	23073	2	2004	 A genetic predisposition for MCS may involve altered biotransformation of environmental chemicals. The CYP2D6 enzyme activates and inactivates toxins; the NAT2 enzyme bioactivates arylamines to protein-binding metabolites. A gene-gene interaction between CYP2D6 and NAT2 suggested that rapid metabolism for both enzymes may confer substantially elevated risk (OR = 18.7, P = 0.002). Our finding parallels others' observation of a link between PON1 heterozygosity and neurological symptoms in Gulf War syndrome. This first demonstration of genetic variation in drug-metabolizing enzymes in association with MCS requires replication. However, it suggests new research directions on genetically variable toxin pathways that might be important in MCS.	Control:162:controls;Case:203 female Caucasian multiple chemical sensitivity:cases										
131323		bladder cancer; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Urinary Bladder Neoplasms|Neoplasms, Multiple Primary|Prostatic Hyperplasia|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Wang, C. Y.  et al. 2002	12552951				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Anticancer research. 2002 Nov-Dec;22(6B):3529-35	Correlation of the genotypes for N-acetyltransferases 1 and 2 with double bladder and prostate cancers in a case-comparison study.		108345	18514	2	2002	 Rapid NAT2 genotype correlated significantly with the development of double prostate-bladder cancer.	Case:17 double-cancer patients;Control:34 age-matched controls who had benign prostatic hypertrophy, but were asymptomatic for prostate or bladder cancer										
131324	Y	bladder cancer	CANCER	CAN		8	8p23.1-p21.3	NAT1	18111894	18125100		Jaskula-Sztul, R.  et al. 2001	14564055				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Journal of applied genetics. 2001 ;42(2):223-31	Association of arylamine N-acetyltransferase (NAT1 and NAT2) genotypes with urinary bladder cancer risk.		108345	18515	2	2001	The coincidence of NAT1-fast/NAT2-slow appears as a potential risk factor for urinary bladder cancer (OR 1.5, 0.8-3.0), as compared with the other genotype combinations.	Control:320 healthy patients;Case:56 bladder cancer patients	smoking (tobacco)	NAT123	#NAME?	NAT2	#NAME?			Y	Arylamines derived from tobacco smoke and environmental pollution	urinary bladder cancer
131325		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Costa, S.  et al. 2005	15717312				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4		Portugal	CDC GDPinfo	9	Hs.591847			The Prostate. 2005 Aug;64(3):246-52	Acetylation genotype and the genetic susceptibility to prostate cancer in a southern European population.		108345	18519	2	2005	 Our results indicate a role of NAT2 polymorphisms in the carcinogenic pathway of prostate cancer, specifically in a population of Southern Europe.	Case:146 prostate cancer patients;Control:174 healthy ment										
131320		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Le Marchand, L.  et al. 2001	11751443				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1259-66	Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk.		108345	18506	2	2001	These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.	Case:349 patients with colorectal cancer:Oahu, Hawaii;Control:467 population controls	meat doneness smoking (tobacco)									
131321		breast cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Loktionov, A.  et al. 2002	12088198				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	South African	South Africa	CDC GDPinfo	9	Hs.591847			Cancer detection and prevention. 2002 ;26(1):15-22	Differences in N-acetylation genotypes between Caucasians and Black South Africans: implicationsfor cancer prevention.		108345	18509	2	2002	The significant differences in N-acetylation genotypes can be among the factors determining a distinctive cancer morbidity and mortality pattern observed in Black South Africans. Both further genetic characterization of different populations and development of preventive strategies adopted for ethnicities with different genetic backgrounds are needed to deal adequately with the emerging health care problems in developing multiethnic societies.	Cohort 101 Black South Africans Cohort 112 UK Caucasians 										
131322	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Hein, D. W.  et al. 2002	12355549				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Environmental and molecular mutagenesis. 2002 ;40(3):161-7	Association of prostate cancer with rapid N-acetyltransferase 1 (NAT1*10) in combination with slow N-acetyltransferase 2 acetylator genotypes in a pilot case-control study.		108345	18510	2	2002	The results of this small pilot study suggest increased susceptibility to prostate cancer for subjects with combinations of NAT1*10 and slow (particularly very slow) NAT2 acetylator genotypes. This finding should be investigated further in larger cohorts and in other ethnic populations.	Case prostate cancer cases;Control hospital-based controls frequency -matched for age, race and referral pattern		NAT1	10	NAT2	slow			Y	smoking (tobacco)	prostrate cancer
131317	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Cascorbi, I.  et al. 2001	11431340				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Cancer research. 2001 Jul;61(13):5051-6	Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced riskin subjects with NAT1*10.		108345	12644	2	2001	our data suggest that individuals provided with NAT2*4 and NAT1*10 are at a significantly lower risk for bladder cancer, particularly when exposed to environmental risk factors.	Control:343 from same catchment area as patients and hospitalized because of a nonmalignant disease:Germany;Case:425 bladder cancer patients:Germany	smoking (tobacco)									
131318		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Gu, J.  et al. 2005	15725609				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Mutation research. 2005 Mar;581(2-Jan):97-104	Effects of N-acetyl transferase 1 and 2 polymorphisms on bladder cancer risk in Caucasians.		108345	12660	2	2005	Our data suggest that having a NAT2 slow acetylator genotype is a significant risk factor for BC, particularly in smokers and older individuals.	Case:507 Caucasian bladder cancer cases;Control:513 age-, gender-, and ethnicity-matched healthy:controls										
131319	N	liver cancer	CANCER	CAN	Liver Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Zhang, X. F.  et al. 2005	15770721				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Chinese	China	CDC GDPinfo	9	Hs.591847			World journal of gastroenterology. 2005 Mar;11(10):1457-62	Are polymorphisms of N-acetyltransferase genes susceptible to primary liver cancer in Luoyang, China?		108345	12661	2	2005	 The polymorphisms of NAT1 and NAT2 are not susceptible to PLC in Luoyang. Allele NAT1*10 interacts with occupational exposures.	Control:173:controls;Case:96 primary liver cancer:Luoyang, China	occupational exposures									
131314		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Johnson N 2004	15142281				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			BMC medical genetics [electronic resource]. 2004 Mar;5:6	NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant.		108345	14	1	2004	 These results suggest that genetic polymorphisms in NAT1 and NAT2 do not influence susceptibility to Alzheimer's disease, although the increase in frequency of the NAT1*10 allele in Alzheimer's disease is worthy of further investigation. Due to its similarity with the NAT1*11A allele, NAT1*11B is likely to encode an enzyme with reduced NAT1 activity.											
131315	N	colorectal adenomas	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100	n	Probst-Hensch NM et al. 1996	8895478				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Carcinogenesis. 1996 Oct;17(10):2125-9	Lack of association between the polyadenylation polymorphism in the NAT1 (acetyltransferase 1) gene and colorectal adenomas.		108345	15	1	1996												
131316	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Zhang, Y.  et al. 2002	12485520				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Nov;41(11):746-9	[The research the relationship between N-acetyltransferase 1 gene polymorphisms and genetic susceptibility to sporadic colorectal adenocarcinoma]		108345	12642	2	2002	 NAT1 * 10 has increased risk of SCRAC and significantly related to the later stage tumors, is not significantly related to the tumor location, whether the elder individuals with NAT1 * 10 have increased risk of SCRAC needs further study.	Control:101 healthy controls;Case:104 Han Chinese sporadic colorectal adenocarcinoma:patients Hubei province, China										
131310	Y	higher N-acetylation activity	OTHER	OTH		8	8p23.1-p21.3	NAT1	18111894	18125100		Bell DA et al. 1995	7585580				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Cancer research. 1995 Nov;55(22):5226-9	Polymorphism in the N-acetyltransferase 1 (NAT1) polyadenylation signal: association of NAT1*10 allele with higher N-acetylation activity in bladder and colon tissue.		108345	10	1	1995												
131311	Y	mild and severe substance abuse	OTHER	OTH	Substance-Related Disorders	8	8p23.1-p21.3	NAT1	18111894	18125100		Comings DE et al. 2000	10817597				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Neuroreport. 2000 Apr;11(6):1227-30	Association of the N-acetyltransferase I gene (NATI) with mild and severe substance abuse.		108345	11	1	2000												
131313		breast cancer	CANCER	CAN	Breast Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Lee KM 2003	12860276				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Cancer letters. 2003 Jul;196(2):179-86	N-acetyltransferase (NAT1, NAT2) and glutathione S-transferase (GSTM1~~~ GSTT1) polymorphisms in breast cancer.		108345	13	1	2003												
131306	Y	Urinary Bladder Cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100	p=0.012	Cascorbi I 2001	11431340	*3. *4. *10.*11.*14.*15. *17. and *22			N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	German		TJB	9	Hs.591847			Cancer research. 2001 Jul;61(13):5051-6	Association of NAT1 and NAT2 polymorphisms to urinary bladder cancer: significantly reduced riskin subjects with NAT1*10.		108345	6	1	2001	our data suggest that individuals provided with NAT2*4 and NAT1*10 are at a significantly lower risk for bladder cancer, particularly when exposed to environmental risk factors.	Control:343 from same catchment area as patients and hospitalized because of a nonmalignant disease:Germany;Case:425 bladder cancer patients:Germany	smoking (tobacco)									
131307	N	Breast Cancer	CANCER	CAN	Breast Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100	n	Millikan RC 2000	10698485	NAT*11			N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4		North Carolina	KGB	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 2000 Feb;9(2):217-9			108345	7	1	2000												
131309	Y	increased chromosome aberrations and higher lung cancer risk	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Abdel-Rahman SZ et al. 1998	9626964				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			KGB	9	Hs.591847			Mutation research. 1998 Feb;398(2-Jan):43-54	Association of the NAT1*10 genotype with increased chromosome aberrations and higher lung cancer risk in cigarette smokers.		108345	9	1	1998												
131302	Y	Contact Allergy	IMMUNE	IMM	Dermatitis, Contact	8	8p23.1-p21.3	NAT1	18111894	18125100	0,022	Westphal GA 2000	10848734	NAT1*10/*10	unknown	3'untranslated	N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Caucasian		TJB	9	Hs.591847			The British journal of dermatology. 2000 Jun;142(6):1121-7	N-Acetyltransferases 1 and 2 polymorphisms in para-substituted arylamine-induced contact allergy		108345	2	1	2000		Case:88; Control:123										
131303		Cigarette Smoking- Related Bladder Cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Hsieh FI 1999	10507782	NAT1*10			N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Taiwanese	Taiwan	TJB	9	Hs.591847			British journal of cancer. 1999 Oct;81(3):537-41			108345	3	1	1999		Case:74; Control:184										
131304	Y	Breast Cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100	p=0.0053	Pfau W 1998	9829711				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			TJB	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 1998 Nov;7(11):1019-25			108345	4	1	1998												
131299		glaucoma, early-onset	VISION	VIS	Glaucoma	1	1q23-q24	MYOC	169871179	169888396		Vincent, A. L.  et al. 2002	11774072				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Canada	CDC GDPinfo	4653	Hs.436037			American journal of human genetics. 2002 Feb;70(2):448-60	Digenic inheritance of early-onset glaucoma:CYP1B1, a potential modifier gene.		601652	23070	2	2002	This work emphasizes the genetic heterogeneity of juvenile glaucoma and suggests, for the first time, that (1) congenital glaucoma and juvenile glaucoma are allelic variants and (2) the spectrum of expression of MYOC and CYP1B1 mutations is greater than expected. We also propose that CYP1B1 may act as a modifier of MYOC expression and that these two genes may interact through a common pathway.	Cohort 60 indiviuals with juvenile or early-onset glaucoma greater Toronto area, Canada 										
131300	Y	acute neonatal disease and hyperammonemia	OTHER	OTH	Genetic Diseases, Inborn|Hyperammonemia	17	17q21.31	NAGS	39437557	39441962		Caldovic L et al. 2003	12594532				N-acetylglutamate synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153006.2		Denmark	KGB	162417	Hs.8876			Human genetics. 2003 Apr;112(4):364-8	Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.		608300	6864	1	2003												
131301		Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Le Marchand L 2001	11751443	NAT1*10			N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Oahu. Hawaii		TJB	9	Hs.591847			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1259-66	Combined effects of well-done red meat, smoking, and rapid N-acetyltransferase 2 and CYP1A2 phenotypes in increasing colorectal cancer risk.		108345	1	1	2001	These data provide additional support to the hypothesis that exposure to carcinogens (presumably HAAs) through consumption of well-done meat increases the risk of CRC, particularly in individuals who are genetically susceptible (as determined by a rapid phenotype for both NAT2 and CYP1A2) and suggest that smoking, by inducing CYP1A2, facilitates this effect.	Case:349 patients with colorectal cancer:Oahu, Hawaii;Control:467 population controls	meat doneness smoking (tobacco)									
131296		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Melki, R.  et al. 2004	15342693				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	French	France	CDC GDPinfo	4653	Hs.436037			Journal of medical genetics. 2004 Sep;41(9):647-51	CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.		601652	23067	2	2004	 CYP1B1 mutations might pose a significant risk for early-onset POAG and might also modify glaucoma phenotype in patients who do not carry a MYOC mutation.	Case:236 unrelated French Caucasian primary open-angle glaucoma patients;Control:47 population-matched controls										
131297		glaucoma, primary open-angle; glaucoma, primary congenital	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Chakrabarti, S.  et al. 2005	15723004				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Indian	India	CDC GDPinfo	4653	Hs.436037			Molecular vision [electronic resource]. 2005 Feb;11:111-3	Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.		601652	23068	2	2005	 The myocilin mutation, Gln48His, represents an allelic condition involving a spectrum of glaucoma phenotypes in Indian populations, and could be a potential risk factor towards disease predisposition among patients of Indian origin. The study also highlights the role of MYOC as a candidate in different glaucoma subtypes that needs to be investigated further.											
131298	Y	glaucoma	VISION	VIS	Glaucoma	1	1q23-q24	MYOC	169871179	169888396		Kaur, K.  et al. 2005	15733270				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			Clinical genetics. 2005 Apr;67(4):335-40	Myocilin gene implicated in primary congenital glaucoma.		601652	23069	2	2005	These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease.	Cohort 72 primary congenital glaucoma patients 										
131293		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Ishikawa, K.  et al. 2004	15534471				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Japanese		CDC GDPinfo	4653	Hs.436037			Journal of glaucoma. 2004 Dec;13(6):466-71	Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.		601652	18500	2	2004	 Mutations in the MYOC gene were demonstrated chromatographically in 2.9% of our Japanese POAG patients. The use of pooled DNAs with DHPLC analysis is a time- and labor-saving technique. All mutations detected appear to be specific to Japanese patients.	Control:100:controls;Case:171 patients with primary open angle glaucoma patients:Japan										
131294		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Krawczynski, M. R.  et al. 2004	15646469				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Polish		CDC GDPinfo	4653	Hs.436037			Klinika oczna. 2004 ;106(5-Apr):564-8	[Study of TIGR gene in patients with primary open angle glaucoma]		601652	18501	2	2004	 Our studies have shown no TIGR gene changes that can be recognized as causative mutations in development of POAG. Thus, the definition of any genotype-phenotype correlation was impossible. The study on the role of the change in promoter sequence that was not yet described, will be continued. Exclusion of TIGR gene mutations in Polish patients with POAG means that they probably have mutations in other genes, what paves the way to the studies on other loci that predispose to POAG.	Cohort 45 Polish patients with primary open angle glaucoma 										
131295	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396	0.0001	Fan, B. J.  et al. 2005	16148883	IVS2+35A>G	Intron	other	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Southern Chinese	Hong Kong	CDC GDPinfo	4653	Hs.436037	glaucoma, juvenile-onset		Molecular vision [electronic resource]. 2005 Aug;11:625-31	SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.	rs2032555	601652	23066	2	2005	 Disease-causing mutations in MYOC and OPTN accounted for only a small proportion of Chinese POAG patients. Common polymorphisms in MYOC, OPTN, and APOE might interactively contribute to POAG, indicating a polygenic etiology.	Case:400 unrelated POAG patients (294 HTG, 106 NTG);Control:281 control subjects without glaucoma over 50 years of age										
131290	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Hypertension	1	1q23-q24	MYOC	169871179	169888396	0.039	Fan, B. J.  et al. 2004	15161538	c.1058C>T	T353I	coding sequence	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Eastern Chinese	Nanjing	CDC GDPinfo	4653	Hs.436037	glaucoma, high tension		Chinese medical journal. 2004 May;117(5):706-10	Genetic and environmental risk factors for primary open-angle glaucoma		601652	18497	2	2004	 Family history, hypertension, cigarette smoking and T353I in the myocilin gene are risk factors for POAG. Alcohol consumption, however, has a protective effect.	Case:32 adult onset primary open-angle glaucoma patients;Control:96 age-sex matched control subjects	Family history, hypertension, cigarette smoking									
131291		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	1	1q23-q24	MYOC	169871179	169888396		Aldred, M. A.  et al. 2004	15338275				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Great Britain	CDC GDPinfo	4653	Hs.436037			Human genetics. 2004 Oct;115(5):428-31	Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing		601652	18498	2	2004	We therefore caution against changing glaucoma surveillance regimens in such individuals and suggest that routine untargeted genetic testing for MYOC mutations in patients with POAG would be of limited value until additional significant genetic risk factors are identified.	Control age and sex matched controls;Case:426 unselected primary open angle glaucoma patients:UK										
131292		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Saura, M.  et al. 2004	15483649			promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			European journal of human genetics. 2005 Mar;13(3):384-7	Mutations including the promoter region of myocilin/TIGR gene.		601652	18499	2	2004	This possibility might be favouring the association of other transcription factors, which would operate as activators or inhibitors of the transcription, altering the MYOC/TIGR expression.	Cohort 79 patients suffering from glaucoma 										
131287		glaucoma	VISION	VIS	Glaucoma, Open-Angle|Exfoliation Syndrome	1	1q23-q24	MYOC	169871179	169888396		Jansson, M.  et al. 2003	12789574				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Sweden	CDC GDPinfo	4653	Hs.436037			Ophthalmic genetics. 2003 Jun;24(2):103-10	Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.		601652	18494	2	2003	This frequency is lower than that reported in other studies of other populations. No disease-causing mutations were found in the exfoliative glaucoma patients, indicating a fundamentally different genetic basis for that glaucoma variant.	Control:200 age-matched controls;Case:200/200 patients with primary open-angle glaucoma and (n=200) and with exfoliative glaucoma (n=200)										
131288	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Melki, R.  et al. 2003	12868033				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Morocco	CDC GDPinfo	4653	Hs.436037			Ophthalmic genetics. 2003 Sep;24(3):153-60	Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.		601652	18495	2	2003	 MYOC is an infrequent genetic cause of severe POAG in Morocco. The absence of the POAG-associated Q368X mutation and the presence of particular polymorphisms, including P13P + L159L and T325T, could be specific features of the MYOC sequence in African populations.	Case:57 patients with severe primary open-angle glaucoma:Morocco;Control:60 subjects from the general population										
131289	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Melki, R.  et al. 2003	12872267				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	French	France	CDC GDPinfo	4653	Hs.436037			Human mutation. 2003 Aug;22(2):179	Myocilin analysis by DHPLC in French POAG patients:increased prevalence of Q368X mutation.		601652	18496	2	2003	Altogether, MYOC mutations in French patients were associated with a significantly increased intraocular pressure at diagnosis. In addition, the age at diagnosis of patients with a mutation other than Q368X was significantly younger than that of Q368X carriers or of patients with a normal MYOC. Based on these observations, a screening strategy of MYOC mutations in French POAG patients is briefly outlined.	Control:108 control subjects;Case:237 primary open-angle glaucoma patients:France										
131284	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Challa, P.  et al. 2002	12362081				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Ghana	Ghana	CDC GDPinfo	4653	Hs.436037			Journal of glaucoma. 2002 Oct;11(5):416-20	Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.		601652	18491	2	2002	 A total of 4.4% of patients with POAG have novel disease-associated mutations in myocilin. Mutations in myocilin appear to play a limited role in the pathogenesis of POAG in this region of West Africa.	Control:76 control patients;Case:90 unrelated affected adults with primary open-angle:glaucoma Ghana, West Africa										
131285	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396	0.01	Wang, N.  et al. 2002	12411077	c.1058C>T	T353I	coding sequence	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Eastern Chinese	China	CDC GDPinfo	4653	Hs.436037			Zhonghua liu xing bing xue za zhi. 2002 Aug;23(4):293-6	[Case control study on the risk factors of primary open angle glaucoma in China]		601652	18492	2	2002	 The most important risk factor of POAG was IOP. Family history, hypertension, smoking and the mutation of TIGR gene were also important risk factors of POAG. However, alcohol intake was a protective factor for POAG.	Case:40 patients with primary open angle glaucoma;Control:120 matched controls without primary open angle glaucoma	Family history, hypertension, cigarette smoking									
131286	N	glaucoma; hypertension, ocular	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Graul, T. A.  et al. 2002	12470758				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			American journal of ophthalmology. 2002 Dec;134(6):884-90	A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.		601652	18493	2	2002	 There is no statistically significant difference between the onset and clinical course of POAG and OHT caused by the Gln368Stop mutation and POAG and OHT not associated with the mutation.	Control:controls;Case:18/4 primary open-angle glaucoma patients (n=18) and ocular hypertension patients (n=4)										
131281		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396			16358725				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			Genetika. 2005 Nov;41(11):1567-74	[Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma]		601652	13035	2	2005												
131282	N	ocular hypertension	VISION	VIS	Ocular Hypertension	1	1q23-q24	MYOC	169871179	169888396		Fingert, J. H.  et al. 2001	11133859				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			Investigative ophthalmology & visual science. 2001 Jan;42(1):145-52	Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.		601652	18489	2	2001	 This study identified no statistically significant evidence for a link between MYOC mutations and steroid-induced ocular hypertension.	Control:114 control subjects;Case:70 human steroid responders										
131283		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Zhuo, Y.  et al. 2000	11853639				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Chinese		CDC GDPinfo	4653	Hs.436037			Chinese journal of ophthalmology. 2000 Nov;36(6):416-9	[To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma]		601652	18490	2	2000	 The pathogenesis of Chinese patients with POAG may be related with TIGR gene mutation, but the mutation rate is lower than that in foreigners, indicating that the mechanism of POAG in China and aboard is different and the pathogenesis of POAG has difference in regions and races.	Control:20 normal controls;Case:70 primary open-angle glaucoma patients										
131277	N	glaucoma	VISION	VIS	Glaucoma, Open-Angle|Exfoliation Syndrome	1	1q23-q24	MYOC	169871179	169888396		Sjostrand, A.  et al. 2002	12190780	GT/CA-repeat		promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			Acta ophthalmologica Scandinavica. 2002 Aug;80(4):384-6	No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma		601652	12637	2	2002	 The present investigation provides no evidence that the variable repeat located in the regulatory sequences of the glaucoma gene GLC1A is associated with the risk of developing POAG or exfoliation glaucoma.	Case:157/197 patients with primary open-angle (n=157) and:exfoliation (n=197) glaucoma;Control:92 healthy blood donors										
131278	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396	0.036	Fan, B.  et al. 2004	14767915	1515+73G>C		3'untranslated	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Southern Chinese	Hong Kong	CDC GDPinfo	4653	Hs.436037			Zhonghua yi xue yi chuan xue za zhi. 2004 Feb;21(1):70-3	[Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients]		601652	12638	2	2004	 The polymorphisms of the MYOC gene may be related to POAG.	Case:157 Chinese unrelated patients with primary open-angle glaucoma;Control:155 unrelated controls without POAG										
131279	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	1	1q23-q24	MYOC	169871179	169888396	0.82	Fan, B. J.  et al. 2004	15354075	-1000C>G		promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Southern Chinese	Hong Kong	CDC GDPinfo	4653	Hs.436037			Journal of glaucoma. 2004 Oct;13(5):377-84	Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma		601652	12639	2	2004	 In this study on the Chinese population, polymorphisms in the MYOC promoter are not related to the risk of POAG. There is no association between the MYOC.mt1 promoter polymorphism with the severity of POAG.	Case:212 unrelated Chinese patients with primary open-angle:glaucoma;Control:221 control subjects without glaucoma over 50 years of age										
131273		Glaucoma	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Mackey DA 2003	12912696	Thr377Met			Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Australia	KGB	4653	Hs.436037			Archives of ophthalmology. 2003 Aug;121(8):1172-80	Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.		601652	4647	1	2003	 The GLC1A Thr377Met mutation is associated with POAG that, in the pedigrees studied, had a younger age at onset and higher peak intraocular pressure than in pedigrees with the more common Gln368STOP mutation. In addition, patients with glaucoma with the Thr377Met mutation were more likely to have undergone glaucoma drainage surgery.											
131275	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Colomb, E.  et al. 2001	11595024			promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDPinfo	4653	Hs.436037			Clinical genetics. 2001 Sep;60(3):220-5	Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.		601652	12635	2	2001	typing of a novel biallelic polymorphism (-1000C/G) located in the upstream region of the MYOC gene might help in the selection of treatment paradigms for the management of POAG patients.	Control not specified in abstract;Case:142 Primary open-angle glaucoma patients										
131276	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396	0.01	Fan, B.  et al. 2002	12126543	c.1058C>T	T353I	coding sequence	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Eastern Chinese	Nanjing	CDC GDPinfo	4653	Hs.436037			Zhonghua yi xue za zhi. 2002 Jun;82(11):743-7	[Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients]		601652	12636	2	2002	 The T353I polymorphism of TIGR gene is associated with POAG in Chinese Han population.	Case:82 unrelated Chinese Han patients with POAG;Control:150 sex-and age-matched unrelated control subjects without POAG										
131269	Y	primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Colomb E et al. 2001	11595024			promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			KGB	4653	Hs.436037			Clinical genetics. 2001 Sep;60(3):220-5	Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.		601652	4643	1	2001	typing of a novel biallelic polymorphism (-1000C/G) located in the upstream region of the MYOC gene might help in the selection of treatment paradigms for the management of POAG patients.	Control not specified in abstract;Case:142 Primary open-angle glaucoma patients										
131271	Y	primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Melki R 2003	12868033				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		Morocco	KGB	4653	Hs.436037			Ophthalmic genetics. 2003 Sep;24(3):153-60	Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.		601652	4645	1	2003	 MYOC is an infrequent genetic cause of severe POAG in Morocco. The absence of the POAG-associated Q368X mutation and the presence of particular polymorphisms, including P13P + L159L and T325T, could be specific features of the MYOC sequence in African populations.	Case:57 patients with severe primary open-angle glaucoma:Morocco;Control:60 subjects from the general population										
131272		primary open angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Kanagavalli J 2003	14627955				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1		India	KGB	4653	Hs.436037			Molecular vision [electronic resource]. 2003 Nov;9:606-14	Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients.		601652	4646	1	2003	 Our findings indicate that the mutation frequency of the MYOC gene is 2% in the Indian population affected with POAG, which is not a well-studied ethnic group of the Asian continent. The variations identified in our study have been previously reported in the Western population. The nonsense mutation Gln368Stop was not observed in the present study and thereby suggests that it may not be a common disease-causing mutation in the Indian population. Amongst other Asian populations, studies in Japan also didn't report this nonsense mutation. The location of these mutations suggest that a plausible mode of action could be by disruption of dimer or oligomer formation by the C-terminal region allowing greater chances of nucleation of aggregation by the N-terminal region.											
131266		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural|Cardiomyopathy, Hypertrophic|	6	6q13	MYO6	76515628	76685974		Tassone F 2004	15060111				Myosin VI	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004999.3			KGB	4646	Hs.149387			Journal of medical genetics. 2004 Apr;41(4):309-14	Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).		600970	4642	1	2004												
131267	Y	hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	11	11q13.5	MYO7A	76516963	76603932		Hu, P.  et al. 2004	15606003				Myosin VIIA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000260.1			CDC GDPinfo	4647	Hs.370421			Zhonghua er bi yan hou ke za zhi. 2004 Sep;39(9):538-42	[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients]		276903	18488	2	2004	 The Arg206Gln mutation in exon 7 of myosin 7a is possibly a novel mutation to cause prelingual nonsyndromic hearing impairment. Our results provide the evidence that exon 7 of Myosin 7a is a mutational hotspot region in genetic deafness.	Control:100 healthy individuals;Case:31 sporadic congenital deaf patients Hunan province, China										
131268	Y	Usher syndrome	VISION	VIS	Abnormalities, Multiple|Syndrome	11	11q13.5	MYO7A	76516963	76603932		Ouyang, X. M.  et al. 2005	15660226				Myosin VIIA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000260.1			CDC GDPinfo	4647	Hs.370421			Human genetics. 2005 Mar;116(4):292-9	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population		276903	23065	2	2005	The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.	Cohort Usher syndrome type I patients US and UK 										
131261		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	3	3p21.3-p21.2	MYL3	46874360	46879977		Ingles, J.  et al. 2005	16199542				Myosin, light polypeptide 3, alkali; ventricular, skeletal, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000258.1			CDC GDPinfo	4634	Hs.517939			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		160790	27126	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
131262	Y	sepsis; lung injury, acute	INFECTION	INF	Sepsis|Respiratory Distress Syndrome, Adult	3	3q21	MYLK	124813832	125085839		Gao L,et al Am J Respir Cell Mol Biol. 2006 Apr;34	16399953				Myosin, light polypeptide kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053025	European American, African American		CDC GDPinfo	4638	Hs.556600			American journal of respiratory cell and molecular biology. 2006	Novel Polymorphisms in the Myosin Light Chain Kinase Gene Confer Risk for Acute Lung Injury		600922	12634	2	2006	These data strongly implicate MYLK genetic variants to confer increased risk of sepsis and sepsis-associated ALI.											
131264	Y	nonsyndromic deafness DFNB3	OTHER	OTH	Deafness	17	17p11.2	MYO15	17952744	18023841		Wang A et al. 1998	9603736				myosin XVA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016239			KGB	51168	Hs.462390			Science. 1998 May;280(5368):1447-51	Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.			6764	1	1998												
131258	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	12	12q23-q24.3	MYL2	109833031	109842764		Kabaeva, Z. T.  et al. 2002	12404107				Myosin, light polypeptide 2, regulatory, cardiac, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000432.2			CDC GDPinfo	4633	Hs.75535			European journal of human genetics. 2002 Nov;10(11):741-8	Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants andmutations in hypertrophic cardiomyopathy.		160781	18486	2	2002	Mutations in MYL2 could be associated with both benign and malignant HCM phenotype.	Cohort 186 unrelated individuals with hypertrophic cardiomyopathy Cohort 210 healthy individuals 										
131259		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	12	12q23-q24.3	MYL2	109833031	109842764		Ingles, J.  et al. 2005	16199542				Myosin, light polypeptide 2, regulatory, cardiac, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000432.2			CDC GDPinfo	4633	Hs.75535			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		160781	26455	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
131260		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	3	3p21.3-p21.2	MYL3	46874360	46879977		Kabaeva, Z. T.  et al. 2002	12404107				Myosin, light polypeptide 3, alkali; ventricular, skeletal, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000258.1			CDC GDPinfo	4634	Hs.517939			European journal of human genetics. 2002 Nov;10(11):741-8	Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants andmutations in hypertrophic cardiomyopathy.		160790	23063	2	2002	Mutations in MYL2 could be associated with both benign and malignant HCM phenotype.	Cohort 186 unrelated individuals with hypertrophic cardiomyopathy Cohort 210 healthy individuals 										
131255		cardiomyopathy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Perkins, M. J.  et al. 2005	16087648				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			European heart journal. 2005 Nov;26(22):2457-62	Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.		160760	25339	2	2005	 This study demonstrates that RAAS genotypes may modify the clinical phenotype of HCM in a disease gene-specific fashion rather than indiscriminately.											
131256		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	14	14q12	MYH7	22951786	22974710		Ingles, J.  et al. 2005	16199542				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		160760	25340	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
131257		thrombocytopenia	HEMATOLOGICAL	HEM	Bernard-Soulier Syndrome|Blood Platelet Disorders|Thrombocytopenia|von Willebrand Disease	22	22q13.1	MYH9	35007271	35113927		Noris, P.  et al. 2004	15477207				Myosin, heavy polypeptide 9, non-muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002473.3			CDC GDPinfo	4627	Hs.474751			Haematologica. 2004 Oct;89(10):1219-25	Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients.		160775	27125	2	2004	 The diagnostic algorithm correctly diagnosed 26 of 28 patients with known disorders or phenotypic variants of known disorders. By a simple modification of the investigation sequence, its sensitivity reached 100%. The algorithm also identified 18 patients with new, as yet uncharacterized forms of genetic thrombocytopenia.	Cohort 46 consecutive thrombocytopenia patients observed furing the last 5 years at a single institution 										
131252		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Disease Progression	14	14q12	MYH7	22951786	22974710		Van Driest, S. L.  et al. 2002	12473556				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1		Minnesota	CDC GDPinfo	4625	Hs.278432			Circulation. 2002 Dec;106(24):3085-90	Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.		160760	19946	2	2002	 These findings demonstrate the rarity of specific mutations in HCM and challenge the notion of mutation-specific clinical outcomes. Fewer than 2% of the subjects harbored a benign mutation, and those patients with a benign mutation experienced a very serious clinical course.	Cohort 293 unrelated hypertrophic cardiomyopathy patients 										
131253	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial	14	14q12	MYH7	22951786	22974710		Villard, E.  et al. 2005	15769782				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			European heart journal. 2005 Apr;26(8):794-803	Mutation screening in dilated cardiomyopathy:prominent role of the beta myosin heavy chain gene.		160760	19950	2	2005	 We have identified seven mutations in MYH7, one in TNNT2, and none in PLN or in the VCL cardio-specific exon. MYH7 appears as the most frequently mutated gene in our FDCM population (approximately 10%), and mutation carriers present with delayed onset, in contrast to TNNT2.	Cohort 96 indipendent dilated cardiomyopathy cases (54 familial and 42 sporadic) 										
131254		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Song, L.  et al. 2005	15563892				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1	Chinese	China	CDC GDPinfo	4625	Hs.278432			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):209-16	Mutations profile in Chinese patients with hypertrophic cardiomyopathy.		160760	23062	2	2005	 We confirmed the diversity of mutation profile in different populations and suggest that a global registry of HCM mutations and their phenotypes is necessary to correlate genotype with phenotype.	Cohort 100 independent hypertrophic cardiomyopathy patients with HCM (proband 51, sporadic 49) China 										
131249		cardiomyopathy	CARDIOVASCULAR	CARD	Motor Neuron Disease|Cardiomyopathy, Hypertrophic, Familial	14	14q12	MYH7	22951786	22974710		Yu, B.  et al. 2005	15858117				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Journal of clinical pathology. 2005 May;58(5):479-85	Denaturing high performance liquid chromatography:high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.		160760	18483	2	2005	 DHPLC is a high throughput, sensitive, specific, and robust platform for the detection of DNA variants, such as disease causing mutations or SNPs. It enables rapid and accurate screening of large genomic regions.	Case:140 sporadic motor neurone disease cases:Cohort:150 unrelated patients diagnosed with familial:hypercholesterolemia;Control:280:controls										
131250		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Seleznev, D. M.  et al. 2005	15940186				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Kardiologiia. 2005 ;45(4):15-20	[The Role of Mutation in Cardiac beta-Myosin Heavy Chain Gene in Population of Patients.]		160760	18484	2	2005												
131251		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Ackerman, M. J.  et al. 2002	12084606				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Journal of the American College of Cardiology. 2002 Jun;39(12):2042-8	Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: acomprehensive outpatient perspective.		160760	19945	2	2002	 This finding underscores the profound genetic heterogeneity in HCM. Only 1% of unrelated individuals seen at a tertiary referral center for HCM possessed one of the five malignant mutations that were examined. Routine clinical testing for these specific mutations is of low yield.	Cohort 293 unrelated individuals with HCM seen at the Mayo Clinic in Rochester, Minnesota April 1997 - October 2000 										
131246		hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial	14	14q12	MYH7	22951786	22974710		Ho, C. Y.  et al. 2002	12081993				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Circulation. 2002 Jun;105(25):2992-7	Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.		160760	18480	2	2002	 Abnormalities of diastolic function assessed by Doppler tissue imaging precede the development of LVH in individuals with HCM caused by beta -MHC mutations. Although Ea velocity alone was not sufficiently sensitive as a sole diagnostic criterion, the combination of Ea velocity and EF was highly predictive of affected genotype in individuals without overt manifestations of HCM.	Case:36 individuals with LVH (G+/LVH+; n=18) and individuals without LVH (G+/LVH-; n=18);Control:36 normal control subjects										
131247		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Mohiddin, S. A.  et al. 2003	12820698				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			CDC GDPinfo	4625	Hs.278432			Genetic testing. 2003 ;7(1):21-7	Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance ofnovel and double (homozygous and heterozygous) beta-myosin mutations.		160760	18481	2	2003		Case:100 consecutive unrelated patients with hypertrophic:cardiomyopathy;Control:200 normal unrelated subjects										
131248		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Perrot, A.  et al. 2005	15856146				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1		Kyrgyzstan|Poland|Germany	CDC GDPinfo	4625	Hs.278432			Journal of molecular medicine (Berlin, Germany). 2005 Jun;83(6):468-77	Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.		160760	18482	2	2005	In conclusion, we report a systematic molecular screening of the complete MYH7 gene in a large group of consecutive HCM patients, leading to a genetic diagnosis in 38 individuals. Information about the genotype in an individual from one family could be very useful for the clinician, especially when dealing with healthy relatives in doubt of their risk about developing HCM. The increasing application of genetic screening and the increasing knowledge about genotype-phenotype correlations will hopefully lead to an improved clinical management of HCM patients.	Cohort 147 consecutive hypertrophic cardiomyopathy patients Germany, Poland, Kyrgyzstan 										
131242		liver cancer; cholangiocarcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Cholangiocarcinoma|Bile Duct Neoplasms|Liver Neoplasms|Genetic Predisposition to Disease	17	17p13.1	MYH1	10336348	10362584		Baudhuin, L. M.  et al. 2005	16292541				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963			CDC GDPinfo	4619	Hs.231581			Journal of cancer research and clinical oncology. 2006 Mar;132(3):159-62	MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.		160730	18478	2	2005												
131244		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Heart Failure|Ventricular Dysfunction, Left	14	14q12	MYH6	22921037	22947324		Carniel, E.  et al. 2005	15998695				Myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002471			CDC GDPinfo	4624	Hs.278432			Circulation. 2005 Jul;112(1):54-9	Alpha-myosin heavy chain: a sarcomeric geneassociated with dilated and hypertrophic phenotypes of cardiomyopathy.		160710	18479	2	2005	 This study suggests that mutations in MYH6 may cause a spectrum of phenotypes ranging from DCM to HCM.											
131245	Y	pronounced septal hypertrophy	CARDIOVASCULAR	CARD	Cardiomegaly|Cardiomyopathy, Hypertrophic	14	14q12	MYH7	22951786	22974710		Havndrup O et al. 2000	11214007				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1			KGB	4625	Hs.278432			Scandinavian cardiovascular journal. 2000 Dec;34(6):558-63	A novel missense mutation Leu390Val in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.		160760	4640	1	2000	 We report a novel missense mutation associated with FHC caused by a double nucleotide transversion. The penetrance of the mutation was not complete, but in clinically affected patients the mutation gives rise to an echocardiographic phenotype, predominantly characterized by pronounced septal hypertrophy.											
131239	Y	rapid progression of neuroblastomas	OTHER	OTH	Neuroblastoma	2	2p24.1	MYCN	15998133	16004580		Fathman CG et al. 1985	4047115				v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)				KGB	4613	Hs.25960			The New England journal of medicine. 1985 Oct;313(18):1111-6	Association of multiple copies of the N-myc oncogene with rapid progression of neuroblastomas.		164840	4639	1	1985												
131240		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	MYH1	10336348	10362584		Kambara, T.  et al. 2004	15034862				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963			CDC GDPinfo	4619	Hs.231581			Genes, chromosomes & cancer. 2004 May;40(1):9-Jan	Role of inherited defects of MYH in the development of sporadic colorectal cancer		160730	18476	2	2004		Control:53 normal blood donors;Case:92/19/17 cases of sporadic CRC 9N=92), cases of familial CRC not meeting the Bethesda guidelines (N=19) and cases with multiple adenomas (n=17)										
131241	Y	colon polyps	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	MYH1	10336348	10362584		Leite, J. S.  et al. 2005	15932553				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963		Portugal	CDC GDPinfo	4619	Hs.231581			Colorectal disease. 2005 Jul;7(4):327-31	Is prophylactic colectomy indicated in patients with MYH-associated polyposis?		160730	18477	2	2005	 A large frequency of biallelic MYH mutations (69%) was found in APC mutation negative patients belonging to families with attenuated polyposis; the highest percentage was observed in families presenting evidence for horizontal transmission of the disease. The high percentage of degeneration found in these patients suggests that colonoscopy with polypectomies is not sufficient and prophylactic colectomy is recommended. The identification of MYH associated polyposis is important to evaluate the level of risk, particularly for the siblings.	Cohort 19/13/6 APC mutation negative patients (n=19), individuals presenting attenuated polyposis (n=13) and individuals with classic familial adenomatous polyposis (> 100 adenomas, n=6) 										
131236		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Translocation, Genetic	8	8q24.12-q24.13	MYC	128816946	128822855		Lee JT et al. 1989	2509518				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			KGB	4609	Hs.202453			The Journal of clinical investigation. 1989 Nov;84(5):1454-9	Sequential bcl-2 and c-myc oncogene rearrangements associated with the clinical transformation of non-Hodgkin's lymphoma.		190080	4634	1	1989												
131237	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8q24.12-q24.13	MYC	128816946	128822855		Wirtenberger, M.  et al. 2005	15929079				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			CDC GDPinfo	4609	Hs.202453			International journal of cancer. Journal international du cancer. 2005 Nov;117(4):638-42	c-MYC Asn11Ser is associated with increased risk for familial breast cancer.		190080	18473	2	2005	The breast cancer risk associated with this genotype increases above the age of 50 years (OR = 2.24, 95% CI 1.20-4.21, p = 0.012). The wild-type amino acid Asn of this polymorphism is located in the N-terminal MYC transactivation domain and is highly conserved not only among most diverse species but also in the N-MYC homologue. Due to the pivotal role of c-MYC in diverse tumours, this variant might affect the genetic susceptibility of other cancers as well.	Case:349/356 Polish (n = 349) and German (n = 356) breast cancer cases tested negative for mutations in the BRCA1 and BRCA2 genes;Control:441/655 Polish (n = 441) and German (n = 655) controls										
131238		stomach cancer	CANCER	CAN	Stomach Neoplasms	8	8q24.12-q24.13	MYC	128816946	128822855		Nan, H. M.  et al. 2005	15991278				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			CDC GDPinfo	4609	Hs.202453			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		190080	27798	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
131232		diffuse large B-cell lymphoma	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell|Lymphoma, B-Cell, Marginal Zone|Disease Progression	8	8q24.12-q24.13	MYC	128816946	128822855		Hiyama T et al. 2001	11182042				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			KGB	4609	Hs.202453			Oncology reports. 2001 Mar-Apr;8(2):289-92	c-myc gene mutation in gastric mucosa-associated lymphoid tissue (MALT) lymphoma and diffuse large B-cell lymphoma.		190080	4630	1	2001												
131233		lymphoma	CANCER	CAN	Lymphoma, B-Cell, Marginal Zone|Translocation, Genetic	8	8q24.12-q24.13	MYC	128816946	128822855		Peng H et al. 1997	9196434				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			KGB	4609	Hs.202453			The Journal of pathology. 1997 Apr;181(4):381-6	c-myc gene abnormalities in mucosa-associated lymphoid tissue (MALT) lymphomas.		190080	4631	1	1997												
131234	N	cancer	CANCER	CAN	Stomach Neoplasms	8	8q24.12-q24.13	MYC	128816946	128822855	n	Pellegata NS et al. 1991	1916760				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3		Italy	KGB	4609	Hs.202453			Human genetics. 1991 Sep;87(5):579-82	A 5'-truncated c-myc gene variant not associated with a risk of cancer.		190080	4632	1	1991												
131228		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	11	11p11.2	MYBPC3	47309526	47330798		Song, L.  et al. 2005	15563892				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2	Chinese	China	CDC GDPinfo	4607	Hs.524906			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):209-16	Mutations profile in Chinese patients with hypertrophic cardiomyopathy.		600958	19949	2	2005	 We confirmed the diversity of mutation profile in different populations and suggest that a global registry of HCM mutations and their phenotypes is necessary to correlate genotype with phenotype.	Cohort 100 independent hypertrophic cardiomyopathy patients with HCM (proband 51, sporadic 49) China 										
131230		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	11	11p11.2	MYBPC3	47309526	47330798		Ingles, J.  et al. 2005	16199542				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2			CDC GDPinfo	4607	Hs.524906			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		600958	23061	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
131231	Y	colorectal carcinomas	CANCER	CAN	Colorectal Neoplasms	8	8q24.12-q24.13	MYC	128816946	128822855		Smith DR et al. 1995	7574421				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			KGB	4609	Hs.202453			Annals of the Academy of Medicine, Singapore. 1995 May;24(3):393-8	Association of activated proto-oncogenes ras and myc in colorectal carcinomas.		190080	4629	1	1995												
131225		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial	11	11p11.2	MYBPC3	47309526	47330798		Alders, M.  et al. 2003	14563344				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2		Netherlands	CDC GDPinfo	4607	Hs.524906			European heart journal. 2003 Oct;24(20):1848-53	The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.		600958	18470	2	2003	 The 2373insG mutation accounts for almost one-fourth of all HCM cases in the Netherlands (60/259), which is predominantly present in the northwestern part of the country (22/66) and is a founder mutation probably originating from the Netherlands.	Case:237 unrelated Dutch patients with cardiomyopathy The Netherlands										
131226		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	11	11p11.2	MYBPC3	47309526	47330798		Van Driest, S. L.  et al. 2004	15519027				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2		Minnesota	CDC GDPinfo	4607	Hs.524906			Journal of the American College of Cardiology. 2004 Nov;44(9):1903-10	Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.		600958	18471	2	2004	 This study defines the frequency and associated phenotype for MYBPC3 and/or multiple mutations in HCM in the largest cohort to date. In this cohort, unrelated patients with MYBPC3-HCM virtually mimicked the phenotype of those with mutations in the beta-myosin heavy chain. Patients with multiple mutations had the most severe phenotype.	Cohort 389 unrelated patients with hypertrophic cardiomyopathy 										
131222	Y	familial hypertrophic cardiomyopathy.	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	11	11p11.2	MYBPC3	47309526	47330798		Bonne G et al. 1995	7493026			splice variant	Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2			KGB	4607	Hs.524906			Nature genetics. 1995 Dec;11(4):438-40	Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.		600958	4627	1	1995												
131223		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial	11	11p11.2	MYBPC3	47309526	47330798		Alders M 2003	14563344				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2		Netherlands	KGB	4607	Hs.524906			European heart journal. 2003 Oct;24(20):1848-53	The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.		600958	4628	1	2003	 The 2373insG mutation accounts for almost one-fourth of all HCM cases in the Netherlands (60/259), which is predominantly present in the northwestern part of the country (22/66) and is a founder mutation probably originating from the Netherlands.	Case:237 unrelated Dutch patients with cardiomyopathy The Netherlands										
131224	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial|Ventricular Dysfunction, Left|Genetic Predisposition to Disease	11	11p11.2	MYBPC3	47309526	47330798		Wang, P.  et al. 2005	15737656				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2		China	CDC GDPinfo	4607	Hs.524906			Biochemical and biophysical research communications. 2005 Apr;329(2):796-9	MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy.		600958	12627	2	2005	Our results point out that GG genotype of MYBPC3 might be a genetic risk factor for the expression of cardiac hypertrophic phenotype in the patients with hypertrophic cardiomyopathy.	Case:226 patients with hypertrophic cardiomyopathy;Control:226 age- and sex-matched controls										
131219		hepatitis B	INFECTION	INF	Hepatitis B	21	21q22.3	MX1	41714311	41753008		King, J. K.  et al. 2002	12447867				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDPinfo	4599	Hs.517307			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		147150	27797	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
131220		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	21	21q22.3	MX1	41714311	41753008		Saito, T.  et al. 2004	15063762				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2		Japan	CDC GDPinfo	4599	Hs.517307			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		147150	28581	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
131221	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Graft Occlusion, Vascular	6	6q22-q23	MYB	135544145	135582003		Gross, C. M.  et al. 2004	15221349	intron 6 G/T		intron	V-myb myeloblastosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005375.2			CDC GDPinfo	4602	Hs.531941			Basic research in cardiology. 2004 Jul;99(4):309-14	The intron 6 G/T polymorphism of c-myb oncogene and the risk for coronary in-stent restenosis.		189990	12626	2	2004	 Restenosis > 50% occurred in 27.6% of patients with at least one G-allele and in 20.8% of those without (p = 0.10). Even after adjustment for the independent risk factors diabetes mellitus, reference lumen diameter, smoking, dyslipidemia and number of diseased vessels, the observed difference in the distribution of the c-myb alleles did not reach statistical significance (p = 0.08). Adenoviral gene transfer of c-myb did not increase proliferation of cultured smooth muscle compared to control virus or untransfected cells, while the expression of the dominant negative mutant reduced proliferation of VSMC as previously shown. Our results indicate that expression of c-myb, while being important for cell cycle is not sufficient to induce smooth muscle cell proliferation. The G/T-nucleotide transversion polymorphism in intron 6 of the c-myb oncogene that has been associated with atherosclerosis and lipid accumulation is not a risk factor for human in-stent restenosis.	Cohort 485 consecutive patients undergoing coronary stenting 										
131216		SARS (severe acute respiratory syndrome)	INFECTION	INF		21	21q22.3	MX1	41714311	41753008			16390004				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDPinfo	4599	Hs.517307			Zhonghua liu xing bing xue za zhi. 2005 Aug;26(8):574-7	[A case-control study on the mxA polymorphisms and susceptibility to severe acute respiratory syndromes]		147150	12625	2	2005	 mxA promoter-88G/T SNP might be confered to host genetic susceptibility to SARS in Chinese Han population.											
131217	Y	severe acute respiratory syndrome	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	21	21q22.3	MX1	41714311	41753008		Hamano, E.  et al. 2005	15766558				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2	Vietnamese	Vietnam	CDC GDPinfo	4599	Hs.517307			Biochemical and biophysical research communication	Polymorphisms of interferon-inducible genes OAS-1 and MxA associated with SARS in the Vietnamese population.		147150	12985	2	2005	Our findings suggest that polymorphisms of two IFN-inducible genes OAS-1 and MxA might affect susceptibility to the disease and progression of SARS at each level.	Control:103:controls;Case:44 Vietnamese SARS patients										
131218	Y	hepatitis C	INFECTION	INF	Hepatitis C	21	21q22.3	MX1	41714311	41753008		Knapp, S.  et al. 2003	12944978				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDPinfo	4599	Hs.517307			Genes and immunity. 2003 Sep;4(6):411-9	Polymorphisms in interferon-induced genes and the outcome of hepatitis C virus infection: roles ofMxA, OAS-1 and PKR.		147150	23059	2	2003	Polymorphisms in the interferon-induced genes, MxA, OAS-1 and PKR appear thus associated with HCV outcome.	Cohort patients with hepatitis C virus infection 										
131213		Familial Mediterranean Fever; hyper-IgD syndrome	IMMUNE	IMM	Autoimmune Diseases|Familial Mediterranean Fever|Syndrome|Inflammation	12	12q24	MVK	108495999	108519450		Simon, A.  et al. 2005	16234278				Mevalonate kinase (mevalonic aciduria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000431.1			CDC GDPinfo	4598	Hs.130607			Rheumatology (Oxford, England). 2005	Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.		251170	25337	2	2005	 Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.											
131214	Y	panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	21	21q22.3	MX1	41714311	41753008		Torisu, H.  et al. 2004	14872030			promoter	Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2	Japanese	Japan	CDC GDPinfo	4599	Hs.517307			Neurology. 2004 Feb;62(3):457-60	Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis		147150	12623	2	2004	 MxA promoter -88 G/T SNP may confer host genetic susceptibility to SSPE in Japanese individuals. The finding that homozygotes of the MxA -88T allele with a high MxA-producing capability were more frequently seen in SSPE patients suggests that the MxA protein promotes the establishment of persistent MV infection of neural cells.	Case Japanese subacute sclerosing panencephalitis;Control:controls										
131215	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	21	21q22.3	MX1	41714311	41753008		Suzuki, F.  et al. 2004	15117331			promoter	Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDPinfo	4599	Hs.517307			Journal of viral hepatitis. 2004 May;11(3):271-6	Single nucleotide polymorphism of the MxA gene promoter influences the response to interferon monotherapy in patients with hepatitis C viral infection.		147150	12624	2	2004	Our findings suggested that the SNP of the MxA gene is one of the important host factors that independently influences the response to IFN in patients with chronic HCV infection, especially those with a low viral load.	Cohort 235 chronic hepatitis C patients 										
131210	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	1	1p34.3-p32.1	MUTYH	45567500	45578729		Farrington, S. M.  et al. 2005	15931596				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDPinfo	4595	Hs.271353			American journal of human genetics. 2005 Jul;77(1):112-9	Germline susceptibility to colorectal cancer due to base-excision repair gene defects.		604933	18755	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 population-based colorectal cancer cases										
131211		colon polyps	CANCER	CAN	Adenomatous Polyposis Coli	1	1p34.3-p32.1	MUTYH	45567500	45578729		Kairupan, C. F.  et al. 2005	15761860				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Australian	Australia	CDC GDPinfo	4595	Hs.271353			International journal of cancer. Journal international du cancer. 2005 Aug;116(1):73-7	Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations.		604933	23058	2	2005	The results reveal that MYH accounts for 16 percent of polyposis patients without germline mutations in the APC gene and that it does not appear to be a modifier gene in FAP patients diagnosed with APC germline mutations.	Control:120 control subjects;Case:62/120 patients diagnosed with adenomatous polyposis with (n=62) and without (n=120)germline mutations in the APC gene										
131212	Y	mevalonate kinase deficiency	OTHER	OTH	Familial Mediterranean Fever	12	12q24	MVK	108495999	108519450		Houten, S. M.  et al. 2003	12634869				Mevalonate kinase (mevalonic aciduria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000431.1		Netherlands	CDC GDPinfo	4598	Hs.130607			European journal of human genetics. 2003 Feb;11(2):196-200	Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.		251170	18469	2	2003	This predicts a disease incidence between1 in 5196 and 1 in 53 656, which is far more than actually observed. Although under-diagnosis ofpatients with MK deficiency remains possible, this discrepancy probably is due to a reduced penetrance of V377I homozygosity. Analysis of the distribution of the V377I allele within patients carrying MVK mutations revealed that this was not according to the Hardy-Weinberg equilibrium principle, most probably due to an under-representation of V377I homozygotes in HIDS. Homozygotes for V377I might exhibit a much milder phenotype of MK deficiency or no disease-phenotype at all.	Cohort 2,138 anonymised newborn screening cards 										
131208		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	1	1p34.3-p32.1	MUTYH	45567500	45578729		Kim, I. J.  et al. 2004	15449173				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1		Korea	CDC GDPinfo	4595	Hs.271353			Human genetics. 2004 Nov;115(6):498-503	Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients:R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients.		604933	18751	2	2004	This result raises the possibility that OGG1 R154H may function as a low/moderate-penetrance modifier for colorectal cancer development.	Case:19/86/246 hereditary nonpolyposis colorectal cancer (HNPCC, n=19), suspected HNPCC (n=86), and sporadic colorectal cancer cases (n=246);Control:527 normal controls										
131209	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Intestinal Polyps|Disease Susceptibility	1	1p34.3-p32.1	MUTYH	45567500	45578729		Farrington, S. M.  et al. 2005	15931596				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDPinfo	4595	Hs.271353			American journal of human genetics. 2005 Jul;77(1):112-9	Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects		604933	18754	2	2005	These data provide the strongest evidence to date for a causative role of BER defects in colorectal cancer etiology and show, to our knowledge for the first time, that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives.	Control:1,845:controls;Case:2,239 colorectal cancer cases										
131203	Y	colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Croitoru, M. E.  et al. 2004	15523092				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1		Ontario	CDC GDPinfo	4595	Hs.271353			Journal of the National Cancer Institute. 2004 Nov;96(21):1631-4	Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.		604933	18464	2	2004	These two MYH gene mutations may account for a substantial fraction of hereditary colorectal cancer.	Case:1,238 colorectal cancer patients from several European poly-posis registries;Control:1,255 healthy control subjects from Ontario, Canada										
131204		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Adenomatous Polyposis Coli|Carcinoma|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Miyaki, M.  et al. 2005	15890374				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Japanese	Japan	CDC GDPinfo	4595	Hs.271353			Mutation research. 2005 Oct;578(2-Jan):430-3	Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.		604933	18465	2	2005	The MYH mutations detected in Japanese patients were novel and different from those detected among Caucasian, Indian and Pakistani patients, which suggests the existence of ethnic differentiation in MYH mutations.	Cohort 35 Japanese patients with multiple colorectal adenomas 										
131206		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Alhopuro, P.  et al. 2005	16134146				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDPinfo	4595	Hs.271353			Human mutation. 2005 Oct;26(4):393	A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.		604933	18467	2	2005												
131200		colorectal cancer; colon polyps	OTHER	OTH	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Gismondi, V.  et al. 2004	14999774				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Italian	Italy	CDC GDPinfo	4595	Hs.271353			International journal of cancer. Journal international du cancer. 2004 May;109(5):680-4	Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.		604933	18461	2	2004	These results indicated that MYH-associated polyposis (MAP) is present in about 20% of Italian FAP/AAPC patients, in whom no germline APC mutation is detectable and showing a family history compatible with recessive inheritance, and in a small fraction of patients with colorectal adenomas in the general population. In addition, our data suggest that mutation 1395delGGA is a subpolymorphic MYH mutational event in some Caucasian populations.	Control:141/52 normal-population adenoma patients (n=141) and clean colon controls (n=52);Case:70 familial adenomatous polyposis patients with no detectable APC mutation and a family history compatible with recessive inheritance:Italy										
131201		colorectal cancer; colon polyps	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Wang, L.  et al. 2004	15236166				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDPinfo	4595	Hs.271353			Gastroenterology. 2004 Jul;127(1):16-Sep	MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.		604933	18462	2	2004	 These data suggest that screening of MYH should be considered not only in patients with multiple polyps but also in patients with early-onset CRC.	Cohort 400/444/140 										
131202		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasms, Multiple Primary|Neoplastic Syndromes, Hereditary|Colonic Polyps	1	1p34.3-p32.1	MUTYH	45567500	45578729		Isidro, G.  et al. 2004	15366000				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Portuguese	Portugal	CDC GDPinfo	4595	Hs.271353			Human mutation. 2004 Oct;24(4):353-4	Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas		604933	18463	2	2004	The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described.	Cohort 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene 										
131196	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	6	6p21	MUT	49506955	49538811		Parle-McDermott, A.  et al. 2003	14654360				Methylmalonyl Coenzyme A mutase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000255.1			CDC GDPinfo	4594	Hs.485527			Molecular genetics and metabolism. 2003 Dec;80(4):463-8	Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects.		251000	12622	2	2003	In conclusion, common variants in the mutase gene do not appear to be risk factors for NTDs but their allele frequencies are significantly different between ethnic groups.	Control:256:controls;Case:279 complete NTD triads (NTD affected case and both:parents)										
131197		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Enholm S 2003	12937124				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Finnish	Finland	KGB	4595	Hs.271353			The American journal of pathology. 2003 Sep;163(3):827-32	Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.		604933	4624	1	2003												
131198		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Wooden SH 2004	15036665				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			KGB	4595	Hs.271353			Cancer letters. 2004 Mar;205(1):89-95	Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer.		604933	4625	1	2004												
131193	Y	Asthma	IMMUNE	IMM	Asthma	4	4q13-q21	MUC7	71372524	71383303	P=0.009	Kirkbride HJ 2001	11378823	MUC7*5 allele			Mucin 7, salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152291.1	Northern European		KCB	4589	Hs.631946			European journal of human genetics. 2001 May;9(5):347-54	Genetic polymorphism of MUC7: allele frequenciesand association with asthma.		158375	4622	1	2001	The MUC7*5 allele was rarer in the atopic asthmatics than in the atopic non-asthmatics, and the difference in frequency between all asthmatics and all non-asthmatics was statistically significant while there was no difference between atopy and non-atopy . In this study we also report the electrophoretic analysis of the MUC7 glycoprotein in saliva from individuals of different MUC7 genotype.	Cohort 375 cohort of asthmatic subjects of various ethnic origins										
131194	Y	Asthma	IMMUNE	IMM	Asthma	4	4q13-q21	MUC7	71372524	71383303	P=0.009	Kirkbride HJ 2001	11378823	MUC7*5 allele			Mucin 7, salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152291.1			KCB	4589	Hs.631946			European journal of human genetics. 2001 May;9(5):347-54	Genetic polymorphism of MUC7: allele frequenciesand association with asthma.		158375	4623	1	2001	The MUC7*5 allele was rarer in the atopic asthmatics than in the atopic non-asthmatics, and the difference in frequency between all asthmatics and all non-asthmatics was statistically significant while there was no difference between atopy and non-atopy . In this study we also report the electrophoretic analysis of the MUC7 glycoprotein in saliva from individuals of different MUC7 genotype.	Cohort 375 cohort of asthmatic subjects of various ethnic origins										
131195		asthma	IMMUNE	IMM	Asthma	4	4q13-q21	MUC7	71372524	71383303		Kirkbride, H. J.  et al. 2001	11378823				Mucin 7, salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152291.1			CDC GDPinfo	4589	Hs.631946			European journal of human genetics. 2001 May;9(5):347-54	Genetic polymorphism of MUC7: allele frequenciesand association with asthma.		158375	12621	2	2001	The MUC7*5 allele was rarer in the atopic asthmatics than in the atopic non-asthmatics, and the difference in frequency between all asthmatics and all non-asthmatics was statistically significant while there was no difference between atopy and non-atopy . In this study we also report the electrophoretic analysis of the MUC7 glycoprotein in saliva from individuals of different MUC7 genotype.	Cohort 375 cohort of asthmatic subjects of various ethnic origins 										
131189		asthma; atopy	IMMUNE	IMM	Lung Diseases	3	3q29	MUC4	196959308	197023545		Vinall, L. E.  et al. 2000	11062147				Mucin 4, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018406			CDC GDPinfo	4585	Hs.369646			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		158372	25336	2	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
131190	N	Asthma	IMMUNE	IMM	Lung Diseases	11	11p15	MUC5B	1225766	1228979	n	Vinall 2000	11062147	VNTR polymorphism			Mucin 5, subtype B, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_039877			KCB	4587	Hs.523395			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		600770	4620	1	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
131191		asthma; atopy	IMMUNE	IMM	Lung Diseases	11	11p15	MUC5B	1225766	1228979		Vinall, L. E.  et al. 2000	11062147				Mucin 5, subtype B, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_039877			CDC GDPinfo	4587	Hs.523395			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		600770	27124	2	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
131184	N	Asthma	IMMUNE	IMM	Lung Diseases	11	11p15.5	MUC2	1064874	1094417	n	Vinall 2000	11062147	VNTR polymorphism			Mucin 2, intestinal/tracheal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002457.1			KCB	4583	Hs.315			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86			158370	4616	1	2000												
131186	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	3	3q29	MUC20	196933519	196946094		Li, G. S.  et al. 2005	16029633				Mucin 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152673.1			CDC GDPinfo	200958	Hs.599259			Zhonghua yi xue za zhi. 2005 May;85(19):1333-8	[Variable number of tandem repeats polymorphism of MUC20 is associated with the progression of IgA nephropathy]			12620	2	2005	 There were MUC20 VNTR polymorphisms in the healthy population. The polymorphism did not associate with the pathogenesis and the clinico-pathological parameters at the time of renal biopsy. The SL/LL genotype was likely to be a risk factor for rapid progression of renal function in the patients with IgAN.											
131187	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	7	7q22	MUC3A	100388685	100397831		Kyo K et al. 1999	9931338				Mucin 3A, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AW842071			KGB	4584	Hs.554764			Human molecular genetics. 1999 Feb;8(2):307-11	Association of ulcerative colitis with rare VNTR alleles of the human intestinal mucin gene MUC3.		158371	4617	1	1999												
131188	N	Asthma	IMMUNE	IMM	Lung Diseases	3	3q29	MUC4	196959308	197023545	n	Vinall 2000	11062147	VNTR polymorphism			Mucin 4, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018406			KCB	4585	Hs.369646			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86			158372	4618	1	2000												
131180	Y	gastritis; intestinal metaplasia	UNKNOWN	UNK	Gastritis|Chronic Disease|Genetic Predisposition to Disease|Metaplasia	1	1q21	MUC1	153424923	153429324		Silva, F.  et al. 2003	12734543				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4	Colombian	Colombia	CDC GDPinfo	4582	Hs.89603			European journal of human genetics. 2003 May;11(5):380-4	MUC1 polymorphism confers increased risk for intestinal metaplasia in a Colombian population with chronic gastritis.		158340	12617	2	2003	Our study also shows that small MUC1 genotypes are associated with increased risk for IM development in Colombian patients.	Cohort 67/52 Colombian patients with chronic gastritis (n=67) and Portuguese patients with chronic gastritis (n=52) 										
131181	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1q21	MUC1	153424923	153429324		Mitsuta, K.  et al. 2005	15944787				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			CDC GDPinfo	4582	Hs.89603			Oncology reports. 2005 Jul;14(1):185-9	Polymorphism of the MUC1 mucin gene is associated with susceptibility to lung adenocarcinoma and poor prognosis.		158340	12618	2	2005												
131183	Y	gastritis	OTHER	OTH	Helicobacter Infections|Gastritis	1	1q21	MUC1	153424923	153429324		Vinall, L. E.  et al. 2002	12105832				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			CDC GDPinfo	4582	Hs.89603			Gastroenterology. 2002 Jul;123(1):41-9	Altered expression and allelic association of the hypervariable membrane mucin MUC1 in Helicobacter pylori gastritis		158340	18460	2	2002	 Our results suggest that H. pylori interacts with MUC1 and that there are functional allelic differences that affect susceptibility to gastritis.	Cohort 95 patients with Helicobacter pylori gastritis 	Helicobacter pylori									
131177		endometrial carcinoma	CANCER	CAN	Endometrial Neoplasms	1	1q21	MUC1	153424923	153429324		Porowska H 2004	14767580				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			KGB	4582	Hs.89603			International journal of molecular medicine. 2004 Mar;13(3):459-64	Inhibition of the O-glycan elongation limits MUC1 incorporation to cell membrane of human endometrial carcinoma cells.		158340	4615	1	2004												
131178		asthma; atopy	IMMUNE	IMM	Lung Diseases	1	1q21	MUC1	153424923	153429324		Vinall, L. E.  et al. 2000	11062147				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			CDC GDPinfo	4582	Hs.89603			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		158340	12615	2	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
131179		gastritis, chronic atrophic; metaplasia, intestinal	OTHER	OTH	Stomach Neoplasms|Gastritis|Gastritis, Atrophic|Chronic Disease	1	1q21	MUC1	153424923	153429324		Silva, F.  et al. 2001	11464247				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4		Portugal	CDC GDPinfo	4582	Hs.89603			European journal of human genetics. 2001 Jul;9(7):548-52	MUC1 gene polymorphism in the gastric carcinogenesis pathway.		158340	12616	2	2001	These findings show that MUC1 polymorphism may define different susceptibility backgrounds for the development of conditions that precede gastric	Control blood donors;Case:174 individuals with chronic gastritis (CG) displaying (CAG) and/or intestinal metaplasia (IM)										
131173	Y	drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	5	5p15.3-p15.2	MTRR	7922216	7954235		de Jonge, R.  et al. 2005	15797993				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		602568	26451	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
131174		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Kiffmeyer, W. R.  et al. 2004	14716779				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	4552	Hs.481551			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		602568	27123	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
131175	N	Asthma	IMMUNE	IMM	Lung Diseases	1	1q21	MUC1	153424923	153429324	n	Vinall 2000	11062147	VNTR polymorphism			Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			KCB	4582	Hs.89603			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease: possible significance of MUC2		158340	4613	1	2000												
131169		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Le Marchand, L.  et al. 2002	12020105				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		United States	CDC GDPinfo	4552	Hs.481551			Cancer causes & control. 2002 Apr;13(3):239-48	B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).		602568	26446	2	2002	 This study provides additional evidence for a decreased CRC risk for subjects with the MTHFR 677T allele, particularly at high levels of folate and vitamin B6 intake. Our data also suggest that the relationships between CRC and the MTHFR A1298C and CBS 844ins68 polymorphisms warrant further study.	Case:727 colorectal cancer cases of Japanese, Caucasian, or Native Hawaiian origin;Control:727 controls matched on sex, age, and ethnicity										
131170		homocysteine	METABOLIC	MET	Hyperhomocysteinemia|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Kluijtmans, L. A.  et al. 2003	12642343				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Blood. 2003 Apr;101(7):2483-8	Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.		602568	26447	2	2003	Our study indicates that dietary factors are centrally important in the control of tHcy levels in young adults with additional, but somewhat weaker, genetic effects. These data underscore the potential benefits that may be gained by improving the dietary status of young adults, and provide support for the implementation of folate/B-vitamin food fortification programs.	Cohort 452 young adults 	folate Vitamin B12									
131171		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	5	5p15.3-p15.2	MTRR	7922216	7954235		Krajinovic, M.  et al. 2005	16013960				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Pharmacogenomics. 2005 Apr;6(3):293-302	Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.		602568	26448	2	2005			radiation									
131166		atherosclerosis, coronary; homocysteine	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Gueant-Rodriguez, R. M.  et al. 2005	16268464				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	French		CDC GDPinfo	4552	Hs.481551			Thrombosis and haemostasis. 2005 Sep;94(3):510-5	Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population.		602568	25331	2	2005												
131167		thromboembolism, venous	CARDIOVASCULAR	CARD		5	5p15.3-p15.2	MTRR	7922216	7954235		Ray, J. G.  et al. 2001	11806787				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Current controlled trials in cardiovascular medicine. 2001 ;2(3):141-149	Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factorsfor venous thromboembolism in women.		602568	26444	2	2001	 Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.	Control Age-matched control women who were free of venous:thrombosis;Case:129 women aged 16-79 years with objectively confirmed:VTE										
131168		thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele	CARDIOVASCULAR	CARD		5	5p15.3-p15.2	MTRR	7922216	7954235		Shi, M.  et al. 2003	14632302				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Mexican		CDC GDPinfo	4552	Hs.481551			Birth defects research Part A, Clinical and molecular teratology. 2003 Aug;67(8):545-9	Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2		602568	26445	2	2003	 The rare allele frequency for each of the five genes studied varied widely. LD is strongest in Pakistani and Brazilian populations (D' = 1.0) and weakest in Mexican populations (D' = 0.45). These findings will allow the selection of variants that will provide the most power in studies of folate pathway genes involving different ancestral populations, and contribute to our knowledge of the population distribution of selected nutritional gene variants.	Cohort 1,064 DNA samples from populations around the world, which were made available by the Centre d'Etude du Polymorphisme Humain (CEPH) consortium worldwide 										
131163	Y	colorectal cancer	CANCER	CAN		5	5p15.3-p15.2	MTRR	7922216	7954235		Matsuo, K.  et al. 2002	12716294				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Japanese		CDC GDPinfo	4552	Hs.481551			Asian Pacific journal of cancer prevention. 2002 ;3(4):353-359	Methionine Synthase Reductase Gene A66G Polymorphism is Associated with Risk of Colorectal Cancer.		602568	25328	2	2002	In conclusion, the present study showed that the GG genotype of MTRR A66G is a risk factor for colorectal cancer in Japanese, while MTHFR and MTR polymorphisms are not. The conclusions, however, need further evaluation in terms of micronutrient status and additional confirmatory studies are required with datasets for various ethnic groups.	Control:241 non-cancer controls;Case:72/70 Japanese colon (n=72) and rectal (n=70) cancer:cases										
131164		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	5	5p15.3-p15.2	MTRR	7922216	7954235		O'leary, V. B.  et al. 2005	15979034				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Molecular genetics and metabolism. 2005 Jul;85(3):220-7	Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.		602568	25329	2	2005												
131165		hyperhomocystinemia	METABOLIC	MET	Hyperhomocysteinemia	5	5p15.3-p15.2	MTRR	7922216	7954235		Geisel, J.  et al. 2001	11592436				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Clinical chemistry and laboratory medicine. 2001 Aug;39(8):698-704	Genetic defects as important factors for moderate hyperhomocysteinemia.		602568	25330	2	2001	In summary, larger and homogeneous study populations are necessary to quantify the small effects of common mutations on homocysteine levels. This may also be the reason that no effects of genetic interactions between two genotypes were observed.	Cohort 280 subjects of different age groups 										
131160		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Folic Acid Deficiency|Vitamin B 12 Deficiency|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Yates, Z.  et al. 2003	12855226				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Molecular genetics and metabolism. 2003 Jul;79(3):201-13	Interaction between common folate polymorphisms and B-vitamin nutritional status modulates homocysteine and risk for a thrombotic event.		602568	25325	2	2003	These results are consistent with accepted paradigms and offer a plausible explanation for the effect and interaction of specific SNPs in the TE phenotype. The biological implications of the limited number of MTHFR/MTHFR mutant alleles that can coexist, u	Cohort 152 individuals who were being treated for either thromboembolic (TE) or non-thromboembolic (non-TE) events 										
131161		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Gemmati, D.  et al. 2004	15159311				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):787-94	Common Gene Polymorphisms in the Metabolic Folate and Methylation Pathway and the Risk of Acute Lymphoblastic Leukemia and non-Hodgkin's Lymphoma in Adults		602568	25326	2	2004	These data are in accordance with the hypothesis that polymorphisms in the genes for folate and methionine metabolism might play a greater role in the occurrence of ALL than NHL by influencing DNA synthesis and/or DNA methylation.	Case:120/200 adult acute lymphoblastic leukemia (n=120) and non-Hodgkin's lymphoma (n=200) patients;Control:257 healthy control subjects										
131162		thromboembolism, venous; hyperhomocystinemia	CARDIOVASCULAR	CARD	Thromboembolism|Hyperhomocysteinemia|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Miriuka, S. G.  et al. 2005	15612980				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Transplant international. 2005 Jan;18(1):29-35	Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients		602568	25327	2	2005	In conclusion, there was a significant difference in the frequency of the G allele genotype of the MTRR A66G in CTX patients versus controls. Differences in cobalamin and folate levels with the MTRR A66G and MS A2756G polymorphisms were noted. Thus, SNP in Hcy-regulating genes may be important determinants of vitamin metabolism in CTX, raising the question of increased vitamin requirements to minimize increased plasma Hcy in this high-risk group.	Control healthy adult controls;Case:84 heart transplant patients										
131157	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Zhu, H.  et al. 2003	12649067				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Molecular genetics and metabolism. 2003 Mar;78(3):216-21	Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.		602568	23045	2	2003	Our results indicate that MTRR and MTR genes may interact to increase the infants' NTD risks. These results did not appear to be influenced by maternal periconceptional folic acid intake. However,the sample size of this study was limited, and a larger population study is needed to pursue these initial observations.	Case neural tube defect infants and their mothers;Control normal controls										
131158		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome|Hyperhomocysteinemia|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Bosco, P.  et al. 2003	12923861				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Sicily	CDC GDPinfo	4552	Hs.481551			American journal of medical genetics Part A. 2003 Sep;121(3):219-24	Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome		602568	23046	2	2003	In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily.	Control:140 control subjects;Control:72 age-matched control mothers;Case:73 case mothers;Case:92 Down syndrome cases:Sicily										
131159		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5p15.3-p15.2	MTRR	7922216	7954235			16351505				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Japanese		CDC GDPinfo	4552	Hs.481551			Nutrition and cancer. 2005 ;53(1):42-50	Folate, vitamin b(6), vitamin b(12), and vitamin b(2) intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan		602568	25324	2	2005			alcohol body mass dietary fiber folate smoking (tobacco) Vitamin B12 vitamin B2 Vitamin B6									
131154	N	kidney transplant complications	IMMUNE	IMM	Kidney Failure, Chronic	5	5p15.3-p15.2	MTRR	7922216	7954235		Feix, A.  et al. 2004	15135249				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Atherosclerosis. 2004 May;174(1):43-8	Methionine synthase reductase MTRR 66A > G has no effect on total homocysteine, folate, and Vitamin B12 concentrations in renal transplant patients.		602568	23042	2	2004	MTRR has no major effect on tHcy, folate, or Vitamin B(12) plasma concentrations in kidney graft recipients.	Cohort 733 kidney graft recipients 										
131155		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Pregnancy Complications|Folic Acid Deficiency	5	5p15.3-p15.2	MTRR	7922216	7954235		Relton, C. L.  et al. 2004	15059614				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Molecular genetics and metabolism. 2004 Apr;81(4):273-81	Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy.		602568	23043	2	2004	Possession of compound 1298A C and 677C T variants elevated risk of NTD pregnancy considerably. Erythrocyte folate levels were persistently lower in NTD mothers despite assays being conducted many years after the index pregnancy (17.6+/-12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677C T variant.	Control pregnant controls and non-pregnant controls from the same geographical region;Case:97 mothers of NTD cases northern UK										
131156	N	homocysteine	CARDIOVASCULAR	CARD	Hyperhomocysteinemia	5	5p15.3-p15.2	MTRR	7922216	7954235		Jacques, P. F.  et al. 2003	12482550				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Atherosclerosis. 2003 Jan;166(1):49-55	Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.		602568	23044	2	2003	There was no significant interaction between MTR and MTRR genotype or between these genotypes and any of the vitamins with respect to homocysteine concentrations. This study provides no evidence that these common MTR and MTRR mutations are associated with alterations in plasma homocysteine.	Cohort subjects from two of the NHLBI Family Heart Study field centers, Framingham and Utah Massachusetts, Utah 										
131151		homocysteine	METABOLIC	MET		5	5p15.3-p15.2	MTRR	7922216	7954235		Vaughn, J. D.  et al. 2004	15514263				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			The Journal of nutrition. 2004 Nov;134(11):2985-90	Methionine Synthase Reductase 66A->G Polymorphism Is Associated with Increased Plasma Homocysteine Concentration When Combined with the Homozygous Methylenetetrahydrofolate Reductase 677C->T Variant		602568	23039	2	2004	These data suggest that coexistence of the MTHFR 677 TT genotype with the MTRR 66A-->G polymorphism may exacerbate the effect of the MTHFR variant alone. The potential negative effect of combined polymorphisms of the MTHFR and MTRR genes on plasma homocysteine in at-risk population groups with low folate and/or vitamin B-12 status, such as women of reproductive potential, deserves further investigation.	Cohort 362 women (20-30 y) 										
131152		kidney transplant complications	IMMUNE	IMM	Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235			16316363				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Kidney international. 2005 Dec;68(6):2857-62	Effects of single-nucleotide polymorphisms in MTHFR and MTRR on mortality and allograft loss in kidney transplant recipients		602568	23040	2	2005	 This study does not support the routine use of MTHFR or MTRR genotyping for prognostic evaluation or risk-stratification in kidney transplant recipients.											
131153		genotoxicity	PHARMACOGENOMIC	PHARM	DNA Damage	5	5p15.3-p15.2	MTRR	7922216	7954235		Zijno, A.  et al. 2003	12807760				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Carcinogenesis. 2003 Jun;24(6):1097-103	Folate status, metabolic genotype, and biomarkers of genotoxicity in healthy subjects.		602568	23041	2	2003	Overall, the results obtained suggest that both folate status and relevant metabolic genotype can influence background levels of DNA damage in normal subjects. The significant association observed in smokers between plasma vitamin B12 and SCE frequencies may highlight the effect of methylation status on DNA damage and repair, although the role of other, unidentified dietary factors cannot be ruled out. At the same time, micronucleus data indicate that the MTRR 66GG variant may represent another individual trait of relative genomic instability, thus supporting epidemiological data on increased risk of Down syndrome conception in MTRR 66GG subjects.	Cohort 191 healthy subjects 	smoking (tobacco)									
131148	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Brilakis, E. S.  et al. 2003	12801615				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDPinfo	4552	Hs.481551			Atherosclerosis. 2003 Jun;168(2):315-22	Methylenetetrahydrofolate reductase (MTHFR) 677C>T and methionine synthase reductase (MTRR) 66A>G polymorphisms: association with serum homocysteineand angiographic coronary artery disease in the era of flour products fortified with folic acid.		602568	23036	2	2003	There were no differences in mean homocysteine, prevalence of hyperhomocysteinemia and significant CAD between the three genotypes. On multivariate analysis, the MTRR genotypes were not associated with serum homocysteine or with significant CAD.	Cohort 504 patients undergoing clinically-indicated angiography Jul, 1998 - Jan, 1999 										
131149		homocysteine	METABOLIC	MET	Heredodegenerative Disorders, Nervous System|Coronary Artery Disease|DNA Damage	5	5p15.3-p15.2	MTRR	7922216	7954235		Botto, N.  et al. 2003	12939653				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Italy	CDC GDPinfo	4552	Hs.481551			European journal of human genetics. 2003 Sep;11(9):671-8	Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage		602568	23037	2	2003	Our results indicate that genetic instability may be associated with increased risk for multiple Hcy-related diseases.	Cohort 68 patients who underwent coronary angiography 										
131150	Y	esophageal cancer; gastric cardia cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Folic Acid Deficiency|Vitamin B 12 Deficiency	5	5p15.3-p15.2	MTRR	7922216	7954235		Stolzenberg-Solomon, R. Z.  et al. 2003	14652285				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Chinese	China	CDC GDPinfo	4552	Hs.481551			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1222-6	Esophageal and gastric cardia cancer risk and folate- and vitamin B(12)-related polymorphisms in Linxian, China.		602568	23038	2	2003	Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population.	Case:219 incident esophageal (n=129) and gastric cardia (n=90) cancer patinets Linxian, North Central China:1985-1996;Control:398:controls										
131144	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235	0.04	Relton CL 2004	15060097	66A-->G			5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Great Britain	KGB	4552	Hs.481551			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		602568	4609	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:201; Control:601										
131146		late-onset vascular disease	OTHER	OTH	Cerebrovascular Disorders|Brain Ischemia|Coronary Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Morita H et al. 1999	9974410				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Japanese	Japan	KGB	4552	Hs.481551			Arteriosclerosis, thrombosis, and vascular biology. 1999 Feb;19(2):298-302	Polymorphism of the methionine synthase gene : association with homocysteine metabolism and late-onset vascular diseases in the Japanese population.		602568	4611	1	1999												
131147	Y	altered B vitamin/thiol metabolism	METABOLIC	MET	Thromboembolism|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Yates Z et al. 2002	12091127				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			KGB	4552	Hs.481551			Haematologica. 2002 Jul;87(7):751-6; discussion 756	Methionine synthase polymorphism A2756G is associated with susceptibility for thromboembolic events and altered B vitamin/thiol metabolism.		602568	4612	1	2002	. A2756G-MS may protect against a thromboembolic event. The role of Hcy remains unclear.											
131140		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q24	MTTP	100715003	100763649		Han, Z.  et al. 2002	12116231				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1		Micronesia	CDC GDPinfo	4547	Hs.195799			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		157147	28091	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
131142	N	plasma homocysteine	CARDIOVASCULAR	CARD	Hyperhomocysteinemia	5	5p15.3-p15.2	MTRR	7922216	7954235	n	Jacques PF 2003	12482550				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	subjects from NHLBI Family Heart Study			4552	Hs.481551			Atherosclerosis. 2003 Jan;166(1):49-55	Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.		602568	4607	1	2003	There was no significant interaction between MTR and MTRR genotype or between these genotypes and any of the vitamins with respect to homocysteine concentrations. This study provides no evidence that these common MTR and MTRR mutations are associated with alterations in plasma homocysteine.	Cohort subjects from two of the NHLBI Family Heart Study field centers, Framingham and Utah Massachusetts, Utah										
131143		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	5	5p15.3-p15.2	MTRR	7922216	7954235		Gueant-Rodriguez RM 2003	12812837				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250			KGB	4552	Hs.481551			Neuroscience letters. 2003 Jul;344(3):189-92	Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans.		602568	4608	1	2003												
131136		lipoproteins	METABOLIC	MET		4	4q24	MTTP	100715003	100763649		Lundahl, B.  et al. 2005	16291571				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			American journal of physiology Endocrinology and metabolism. 2005	The microsomal triglyceride transfer protein -493T variant reduces IDL plus LDL apoB production and the plasma concentration of large LDL particles.		157147	18456	2	2005												
131138		cholesterol; cholesterol, LDL; insulin; apoB	METABOLIC	MET	Insulin Resistance|Hypertriglyceridemia|Genetic Predisposition to Disease	4	4q24	MTTP	100715003	100763649		Stan, S.  et al. 2004	15547295				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Canadian	Canada	CDC GDPinfo	4547	Hs.195799			Journal of lipid research. 2005 Feb;46(2):320-7	Intestinal fatty acid binding protein and microsomal triglyceride transfer protein polymorphisms in French-Canadian youth.		157147	23054	2	2004	Our study suggests that the effects of allelic variations of FABP2 on lipid traits are context dependent, indicating that this variant may play an important role in the pathogenesis of cardiovascular disease in presence of IRS or hypertriglyceridemia.	Cohort 1,742 French Canadians aged 9, 13 and 16 years who took part into the 1999 Quebec Child and Adolescent Health and Social Survey 										
131139		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q24	MTTP	100715003	100763649		Vincent, S.  et al. 2002	12691171				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		157147	27796	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
131133	N	lipoproteins; obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	4	4q24	MTTP	100715003	100763649		Berthier, M. T.  et al. 2004	15635487				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Canadian	Canada	CDC GDPinfo	4547	Hs.195799			Journal of human genetics. 2004 ;49(12):684-90	Molecular screening of the microsomal triglyceride transfer protein: association between polymorphismsand both abdominal obesity and plasma apolipoprotein B concentration.		157147	18453	2	2004	Haplotypes were not associated with phenotypes under study. In conclusion, some MTP gene polymorphisms in the French Canadian population are associated with the amount of abdominal visceral AT and plasma LDL-apoB concentrations.	Cohort French Canadian men with visceral obesity Canada 										
131134		triglycerides; cholesterol, LDL; lipoproteins	METABOLIC	MET	Lipid Metabolism, Inborn Errors	4	4q24	MTTP	100715003	100763649		Zhu, J. M.  et al. 2005	15719047				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Chinese		CDC GDPinfo	4547	Hs.195799			Beijing da xue xue bao Yi xue ban. 2005 Feb;37(1):72-4	[Screening for the G1528C mutation in long chain fatty acid oxidation enzyme in Han nationality in Beijing population]		157147	18454	2	2005	 G1528C is probably not the common prevalent mutation in MTP gene in Chinese. Different prevalent mutation between Chinese and Western white people needs further study.	Cohort 1, 200 Chinese Han cord blood samples 										
131135	N	longevity	AGING	AGE		4	4q24	MTTP	100715003	100763649		Nebel, A.  et al. 2005	15911777				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Proceedings of the National Academy of Sciences of the United States of America. 2005 May;102(22):7906-9	No association between microsomal triglyceride transfer protein (MTP) haplotype and longevity in humans.		157147	18455	2	2005	In our view, the original study therefore highlights potential problems that arise when the case-control design is used as a means to map longevity genes in humans.	Case German nonagenarians and centenarians;Control appropriately matched controls										
131130	Y	steatohepatitis, non-alcoholic	UNKNOWN	UNK	Fatty Liver|Hepatitis, Chronic|Syndrome	4	4q24	MTTP	100715003	100763649		Namikawa, C.  et al. 2004	15094225				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Journal of hepatology. 2004 May;40(5):781-6	Polymorphisms of microsomal triglyceride transfer protein gene and manganese superoxide dismutase gene in non-alcoholic steatohepatitis.		157147	14022	2	2004	 The G allele in the MTP promoter leads to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. The T allele in MnSOD mitochondrial targeting sequence leads to less transport of MnSOD to the mitochondria. Therefore, functional polymorphisms in MTP and MnSOD may be involved in determining susceptibility of NASH.	Control:150 healthy controls;Case:63 patients with biopsy-proven non-alcoholic:steatohepatitis										
131131	Y	body mass; cholesterol, LDL; cholesterol, total; insulin; apoB	METABOLIC	MET		4	4q24	MTTP	100715003	100763649		Ledmyr, H.  et al. 2002	11792722				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Journal of lipid research. 2002 Jan;43(1):51-8	Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index		157147	18451	2	2002	In summary, two promoter polymorphisms and one missense polymorphism in the MTP gene alter plasma total and LDL cholesterol levels, plasma LDL apoB levels, BMI, and insulin levels. This may, in turn, have implications for genetic regulation of cardiovascular risk factors.	Cohort 564 healthy men 										
131132	Y	atherosclerosis, coronary; lipoprotein; lipids	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Abetalipoproteinemia|Disease Susceptibility	4	4q24	MTTP	100715003	100763649		Ledmyr, H.  et al. 2004	15136504				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1		Scotland|Sweden	CDC GDPinfo	4547	Hs.195799			Circulation. 2004 May;109(19):2279-84	The microsomal triglyceride transfer protein gene-493T variant lowers cholesterol but increases the risk of coronary heart disease.		157147	18452	2	2004	 The MTP-493T variant confers an increased risk of CHD that is unrelated to plasma lipids and lipoproteins, but eliminated by pravastatin treatment. A direct effect of the MTP polymorphism on myocardial lipid metabolism and vulnerability upon ischemic damage cannot be excluded.	Control:1,160:controls;Case:580 coronary heart disease patients from the West of Scotland Coronary Prevention Study biobank										
131126		cholesterol; triglycerides; cholesterol, LDL	METABOLIC	MET	Hyperlipoproteinemia Type II	4	4q24	MTTP	100715003	100763649		Garcia-Garcia, A. B.  et al. 2005	15864113	( -493 G/T)		promoter	microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Spanish		CDC GDPinfo	4547	Hs.195799			Pharmacogenetics and genomics. 2005 Apr;15(4):211-8	Influence of microsomal triglyceride transfer protein promoter polymorphism -493 GT on fasting plasma triglyceride values and interaction with treatment response to atorvastatin in subjects with heterozygous familial hypercholesterolaemia.		157147	12611	2	2005	In conclusion, the MTP -493 GT polymorphism modulates pre- and post-treatment plasma TG values of FH in Spanish subjects in a gender-specific way. Other environmental and genetic factors likely also modulate this response.	Cohort 222 Spanish familial hypercholesterolemia patients 	atorvastatin									
131127	N	longevity	AGING	AGE		4	4q24	MTTP	100715003	100763649		Bathum, L.  et al. 2005	16015282				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			European journal of human genetics. 2005 Oct;13(10):1154-8	No evidence for an association between extreme longevity and microsomal transfer protein polymorphisms in a longitudinal study of 1651 nonagenarians.		157147	12612	2	2005												
131129	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	4	4q24	MTTP	100715003	100763649			16328015				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Japanese		CDC GDPinfo	4547	Hs.195799			International journal of molecular medicine. 2006 Jan;17(1):83-8	Association of a microsomal triglyceride transfer protein gene polymorphism with blood pressure in Japanese women		157147	12614	2	2006												
131123	Y	lipid metabolism disorders	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	4	4q24	MTTP	100715003	100763649		Chen, L.  et al. 2003	12775233			promoter	microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Chinese medical journal. 2003 Feb;116(2):215-7	Effect of microsomal triglyceride transfter protein gene polymorphism in the promoter region on dyslipidemia in type 2 diabetic subjects		157147	12608	2	2003	 Genetic variation in the MTP promoter is likely to be highly involved in the production of dyslipidemia in type 2 diabetic subjects.	Control:32 non-diabetic volunteers;Case:44 Chinese type 2 diabetic subjects										
131124		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	4	4q24	MTTP	100715003	100763649		Chen, S. P.  et al. 2003	12818411	( -493 G/T)			microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Chinese		CDC GDPinfo	4547	Hs.195799			Atherosclerosis. 2003 Apr;167(2):287-92	Effect of the microsomal triglyceride transfer protein -493 G/T polymorphism and type 2 diabetes mellitus on LDL subfractions.		157147	12609	2	2003	In conclusion, the -493 G/T polymorphism only has a minor effect on LDL subfraction pattern in Chinese and the effect is only apparent in the presence of type 2 diabetes.	Case:281 Chinese type 2 diabetic subjects;Control:364 non-diabetic controls										
131125	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q24	MTTP	100715003	100763649		Phillips, C.  et al. 2004	15028851				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			QJM. 2004 Apr;97(4):211-8	Microsomal triglyceride transfer protein polymorphisms and lipoprotein levels in type 2 diabetes		157147	12610	2	2004	The common -493 G/T MTP polymorphism is associated with changes in VLDL and LDL in Type 2 diabetic patients. The importance of the changes in apoB48-containing small particles requires further investigation. The significantly lower LDL cholesterol suggests that this polymorphism may confer protection against atherosclerosis in type 2 diabetes.	Cohort 82 type 2 diabetic patients 	diet									
131120		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	4	4q24	MTTP	100715003	100763649		Chen L 2003	12775233				Microsomal triglyceride transfer protein (large polypeptide, 88kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Chinese		Y Wang	4547	Hs.195799			Chinese medical journal. 2003 Feb;116(2):215-7	Effect of microsomal triglyceride transfer protein gene polymorphism in the promoter region on dyslipidemia in type 2 diabetic subjects.		157147	4606	1	2003	 Genetic variation in the MTP promoter is likely to be highly involved in the production of dyslipidemia in type 2 diabetic subjects.											
131121	Y	ApoB-48	UNKNOWN	UNK		4	4q24	MTTP	100715003	100763649		Lundahl, B.  et al. 2002	11834530			promoter	microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Arteriosclerosis, thrombosis, and vascular biology. 2002 Feb;22(2):289-93	Postprandial plasma ApoB-48 levels are influenced by a polymorphism in the promoter of the microsomal triglyceride transfer protein gene.		157147	12606	2	2002	These data support the notion that elevated transcriptional activity of MTP leads to an increased generation of the smallest triglyceride-rich lipoprotein from the intestine.	Cohort 12 homozygous and 24 heterozygous individuals of the rare MTP-493T variant, and 24 homozygous common variant individuals from a population-based screening of 50-year-old healthy white men 										
131122		lipids; hyperinsulinemia; obesity, visceral	METABOLIC	MET	Metabolic Syndrome X|Obesity	4	4q24	MTTP	100715003	100763649		St-Pierre, J.  et al. 2002	11849654				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Atherosclerosis. 2002 Feb;160(2):317-24	Visceral obesity and hyperinsulinemia modulate the impact of the microsomal triglyceride transfer protein -493G/T polymorphism on plasma lipoprotein levels in men.		157147	12607	2	2002	In summary, visceral obesity and hyperinsulinemia modulate the impact of the MTP -493G/T polymorphism on plasma total cholesterol and LDL-apoB levels, as well as on LDL peak particle diameter.	Cohort 227 men 										
131116		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q21-q22	MTNR1B	92342436	92355596		Ha, E.  et al. 2005	16098099				Melatonin receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005959.3	Korean	Korea	CDC GDPinfo	4544	Hs.569039			Journal of pineal research. 2005 Sep;39(2):201-5	Positive relationship between melatonin receptor type 1B polymorphism and rheumatoid factor in rheumatoid arthritis patients in the Korean population.		600804	23016	2	2005												
131117	Y	diabetes, type 2	METABOLIC	MET	Hepatitis, Chronic|Diabetes Mellitus, Type 2	4	4q24	MTP	100715065	100764177		Bernard S et al. 2000	10990076				Microsomal triglyceride transfer protein (large polypeptide, 88kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898		France	KGB	4547	Hs.195799			Diabetologia. 2000 Aug;43(8):995-9	Association between microsomal triglyceride transfer protein gene polymorphism and the biological features of liver steatosis in patients with type II diabetes.		157147	4603	1	2000												
131119	Y	plasma cholesterol levels and body mass index	METABOLIC	MET		4	4q24	MTTP	100715003	100763649		Ledmyr H et al. 2002	11792722				Microsomal triglyceride transfer protein (large polypeptide, 88kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			KGB	4547	Hs.195799			Journal of lipid research. 2002 Jan;43(1):51-8	Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index.		157147	4605	1	2002												
131112	Y	recessive Charcot-Marie-Tooth disease	OTHER	OTH	Charcot-Marie-Tooth Disease	11	11q22	MTMR2	95205693	95296920		Nelis E et al. 2002	12398840				Myotubularin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016156.3		Turkey	KGB	8898	Hs.181326			Neuromuscular disorders. 2002 Nov;12(9):869-73	A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.		603557	6603	1	2002												
131114	N	scoliosis	OTHER	OTH	Scoliosis	4	4q35.1	MTNR1A	187691802	187713531	n	Morcuende JA 2003	12973153				Melatonin receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005958.3			Ryan Delahanty	4543	Hs.243467			Spine. 2003 Sep;28(17):2025-8; discussion 2029	Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis		600665	4602	1	2003	 The results of this study demonstrated no evidence of linkage to chromosome 4q and no mutations in the coding region of the gene for human melatonin receptor. The identification of variants in the human melatonin receptor could provide a useful tool for testing the gene in the predisposition to various other melatonin-related disorders and for clarifying the role of melatonin in adolescent idiopathic scoliosis.											
131115		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	4	4q35.1	MTNR1A	187691802	187713531		Ha, E.  et al. 2005	16098099				Melatonin receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005958.3	Korean	Korea	CDC GDPinfo	4543	Hs.243467			Journal of pineal research. 2005 Sep;39(2):201-5	Positive relationship between melatonin receptor type 1B polymorphism and rheumatoid factor in rheumatoid arthritis patients in the Korean population.		600665	12573	2	2005												
131109		cervical artery dissection, spontaneous	CARDIOVASCULAR	CARD	Vertebral Artery Dissection	14	14q24	MTHFD1	63924845	63996474		Konrad, C.  et al. 2004	15503105				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Journal of neurology. 2004 Oct;251(10):1242-8	Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections		172460	22965	2	2004	These data suggest that elevated homocysteine is associated with the occurrence of sCAD. The MTHFR C677T polymorphism is associated with the homocysteine level.	Control:95 age- and sex-matched healthy individuals;Case:95 patients with past spontaneous cervical artery:dissections										
131111	Y	mild myotubular myopathy	OTHER	OTH	Muscular Diseases	X	Xq28	MTM1	149487726	149592272		Donnelly A et al. 1998	10215413				Myotubularin 1				KGB	4534	Hs.434285			Human mutation. 1998 ;11(4):334	A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.		300415	4601	1	1998												
131106		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474		Oterino, A.  et al. 2005	15953655	R653Q		promoter	Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Brain research  Molecular brain research. 2005 Sep;139(1):163-8	Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele.		172460	14574	2	2005	We conclude that  the pathogenetic role of the MTHFR T677 allele in migraine is modulated by functional polymorphisms of TS and MTHFD1.											
131107		folate; homocysteine	METABOLIC	MET	Epilepsy|Hyperhomocysteinemia|Folic Acid Deficiency	14	14q24	MTHFD1	63924845	63996474		Ono, H.  et al. 2002	12015164				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Brain & development. 2002 Jun;24(4):223-6	The C677T mutation in the methylenetetrahydrofolate reductase gene contributes to hyperhomocysteinemia in patients taking anticonvulsants.		172460	18379	2	2002	The C677T mutation is closely related to hyperhomocysteinemia and folate deficiency in epileptic patients taking multiple anticonvulsants.	Cohort 81 epileptic patients 	anticonvulsant therapy									
131108		omphalocele	DEVELOPMENTAL	DEV	Hernia, Umbilical	14	14q24	MTHFD1	63924845	63996474		Mills, J. L.  et al. 2005	15937947				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2		New York	CDC GDPinfo	4522	Hs.632340			American journal of medical genetics Part A. 2005 Jul;136(1):11-Aug	Folate-related genes and omphalocele.		172460	19796	2	2005	In this small study, the thermolabile variant of MTHFR, 677C --> T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.	Case:25 children with euploid omphalocele;Control:59 matched controls										
131103		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474			16315005	1958G>A			Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Journal of human genetics. 2006 ;51(2):98-103	Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk		172460	12536	2	2005												
131104		drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	14	14q24	MTHFD1	63924845	63996474		de Jonge, R.  et al. 2005	15797993				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		172460	12595	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
131105		pregnancy loss, second trimester	REPRODUCTION	REP		14	14q24	MTHFD1	63924845	63996474		Parle-McDermott, A.  et al. 2005	16051678				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Mol Hum Reprod    2005	A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.		172460	14197	2	2005												
131100	Y	abruptio placentae	REPRODUCTION	REP	Abruptio Placentae	14	14q24	MTHFD1	63924845	63996474		Parle-McDermott, A.  et al. 2005	15633187	R653Q			Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			American journal of medical genetics Part A. 2005 Feb;132(4):365-8	MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.		172460	12533	2	2005	We conclude that  women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.'	Control:184 control pregnancies;Case:62 women with a pregnancy history complicated by severe abruptio placentae										
131101		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	14	14q24	MTHFD1	63924845	63996474		Cheng, J.  et al. 2005	15861780				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2		China	CDC GDPinfo	4522	Hs.632340			Biomedical and environmental sciences. 2005 Feb;18(1):58-64	Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect.		172460	12534	2	2005	 No significant difference of genotype distribution and allele frequency existed between CHD patients and healthy population. MTHFD G1958A mutation in parents (particularly in mother) can decrease the risk of arterial septal defect in offspring. The possible mechanism of protection might be mutation, which can increase MTHFD enzyme activity, folic acid metabolism and homocysteine remethylation, and decrease Hcy level.	Control:124 healthy subjects (age and gender matched) and their parents were simultaneously selected from the same geographic area;Case:192 congenital heart disease patients and their parents Liaoning Province										
131102		pregnancy loss, second trimester	REPRODUCTION	REP	Abortion, Spontaneous|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474		Parle-McDermott, A.  et al. 2005	16123074				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			Molecular human reproduction. 2005 Jul;11(7):477-80	A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss.		172460	12535	2	2005												
131097		diabetes, type 2	METABOLIC	MET	Neoplasms	9	9p21	MTAP	21792634	22111093		Kadariya, Y.  et al. 2002	11985785			promoter	Methylthioadenosine phosphorylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002451.3	Japanese		CDC GDPinfo	4507	Hs.193268			Japanese journal of cancer research. 2002 Apr;93(4):369-73	Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population.		156540	12527	2	2002	These results indicated that the Delta 14 allele has nothing to do with MTAP deficiency in DHL-9. The Delta 14 allele is distributed among the general population irrespective of gender.	Cohort 210 Japanese individuals 										
131098	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	14	14q24	MTHFD1	63924845	63996474		Brody, L. C.  et al. 2002	12384833				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2		Ireland	CDC GDPinfo	4522	Hs.632340			American journal of human genetics. 2002 Nov;71(5):1207-15	A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: rep of the Birth Defects Res.Gp		172460	12529	2	2002	We conclude that  genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival.	Case mothers of children with neural tube defects;Control control individuals										
131099		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	14	14q24	MTHFD1	63924845	63996474		Krajinovic, M.  et al. 2003	14647408				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			The pharmacogenomics journal. 2004 ;4(1):66-72	Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia.		172460	12530	2	2003	These results reveal the role of gene-gene interactions within a folate pathway, and how they can correlate with relapse probabilities in ALL patients.	Cohort 201 children treated with methotrexate for childhood acute lymphoblastic leukemia 	methotrexate									
131093		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	4	4p16.3-p16.1	MSX1	4912292	4916561			16327884				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2			CDC GDPinfo	4487	Hs.424414			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		142983	27107	2	2005												
131094		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	5	5q34-q35	MSX2	174084180	174090508			16327884				Msh homeo box homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002449.4			CDC GDPinfo	4488	Hs.89404			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		123101	27555	2	2005												
131096		breast cancer cell proliferation using antisense phosphorothioate oligonucleotides	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis	14	14q32.3	MTA1	104957230	105008102		Nawa A et al. 2000	10967548				Metastasis associated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004689.2			KGB	9112	Hs.525629			Journal of cellular biochemistry. 2000 Aug;79(2):202-12	Tumor metastasis-associated human MTA1 gene: its deduced protein sequence localization and association with breast cancer cell proliferation using antisense phosphorothioate oligonucleotides.		603526	6612	1	2000												
131090	N	cleft lip with or without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	4	4p16.3-p16.1	MSX1	4912292	4916561		Beaty, T. H.  et al. 2002	11754469				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2		Maryland	CDC GDPinfo	4487	Hs.424414			Genetic epidemiology. 2002 Jan;22(1):11-Jan	Testing candidate genes for non-syndromic oral clefts using a case-parent trio design.		142983	18374	2	2002	There was little evidence of heterogeneity in the role of TGFbeta3 between different types of oral clefts, but MSX1 did yield marginal evidence for such heterogeneity. MSX1 also showed evidence for interaction between infant's genotype and maternal smoking, giving a likelihood ratio test for heterogeneity between smoker and non-smoker mothers of 7.16 (2 df, P = 0.03). Using a conditional logistic model to test for gene-gene interaction showed no evidence of interaction between TGFbeta3 and MSX1, with both seeming to contribute independently to risk of isolated, non-syndromic oral clefts.	Case ascertained through treatment centers in Maryland	smoking (tobacco)							N		
131091		cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	4	4p16.3-p16.1	MSX1	4912292	4916561		Jugessur, A.  et al. 2003	12652527				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2		Norway	CDC GDPinfo	4487	Hs.424414			Genetic epidemiology. 2003 Apr;24(3):230-9	Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts:a case-parent triad analysis.		142983	19824	2	2003	In conclusion, no strong associations were found between CL+/-P and variants at these three genes. There was a possible recessive effect of the TGFA TaqI variant on the risk of CPO, with a 3-fold risk among children homozygous for the variant. The effect of this TGFA genotype was even stronger among children homozygous for the MSX1-CA A4 allele, raising the possibility of interaction between these two genes. Genet Epidemiol	Cohort 262 case-parent triads from a population-based study of orofacial clefts Norway 										
131092		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	4	4p16.3-p16.1	MSX1	4912292	4916561		Murray, J. C.   2002	12030886				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2			CDC GDPinfo	4487	Hs.424414			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		142983	27106	2	2002	Review article											
131087	Y	limb deficiency	OTHER	OTH	Limb Deformities, Congenital|Abnormalities	X	Xp11.4	TSPAN7	38305683	38433116		Hwang SJ et al. 1998	9482651				Msh homeo box homolog 1 (Drosophila)			Maryland	KGB	4487	Hs.424414			American journal of medical genetics. 1998 Feb;75(	Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency.		142983	4599	1	1998												
131088	Y	cleft lip with or without cleft palate	DEVELOPMENTAL	DEV	Cleft Lip	4	4p16.3-p16.1	MSX1	4912292	4916561		Blanco, R.  et al. 2001	11332647				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2		Chile	CDC GDPinfo	4487	Hs.424414			Human biology; an international record of research. 2001 Feb;73(1):81-9	Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population.		142983	18372	2	2001	Taken together, these findings support the hypothesis that the genetic variation at the MSX1 locus is a predisposing gene involved in sex-dependent susceptibility to clefting and that it also differentiates simplex from multiplex families.	Case:73 nonsyndromic cleft lip/palate cases, 37 from multiplex families, 36 from simplex families:Chile;Control:87 normal individuals without known family antecedents of clefting										
131089	N	cleft lip with or without cleft palate; cleft palate, isolated	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	4	4p16.3-p16.1	MSX1	4912292	4916561		Mitchell, L. E.  et al. 2001	11384957				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2	Danish	Denmark	CDC GDPinfo	4487	Hs.424414			American journal of epidemiology. 2001 May;153(10):1007-15	Evaluation of two putative susceptibility loci for oral clefts in the Danish population.		142983	18373	2	2001	Analyses of these data provide evidence of an association between the risk of CP and variation at the TGFB3 locus. However, there is no evidence that the risk of CL+/-P or CP is influenced by gene-environment interactions involving MSX1 or TGFB3 and either first trimester exposure to maternal cigarette smoke or alcohol consumption.	Case patients with CL+/-P or CP 1991 to 1994;Control mothers of the two preceding births in the hospital where the case mother had delivered	alcohol, maternal smoking (tobacco), maternal									
131083		prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Maier, C.  et al. 2005	16287155				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	German		CDC GDPinfo	4481	Hs.632045			Human mutation. 2006 Jan;27(1):98-102	Germline mutations of the MSR1 gene in prostate cancer families from Germany.		153622	18371	2	2005												
131084		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Metastasis	8	8p22	MSR1	16009757	16094671		Noonan-Wheeler, F. C.  et al. 2005	16114055				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2		United States	CDC GDPinfo	4481	Hs.632045			The Prostate. 2006 Jan;66(1):49-56	Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.		153622	22960	2	2005	 These results suggest that, in a European-American population, ELAC2 217L and RNASEL 541E are associated with metastatic sporadic disease. ELAC2 and RNASEL SNP analysis may prove useful in determining which patients are at risk for developing clinically significant prostate carcinoma.											
131086		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671		Maier, C.  et al. 2005	15714208				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	German		CDC GDPinfo	4481	Hs.632045			British journal of cancer. 2005 Mar;92(6):1159-64	Mutation screening and association study of RNASEL as a prostate cancer susceptibility gene.		153622	22962	2	2005	Our results are not consistent with a high penetrance of deleterious RNASEL mutations. Due to the low frequency of germline mutations present in our sample, RNASEL does not have a significant impact on prostate cancer susceptibility in the German population.	Control:207:controls;Case:227 prostate cancer patients										
131079	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Miller, D. C.  et al. 2003	12839931				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2		United States|Michigan	CDC GDPinfo	4481	Hs.632045			Cancer research. 2003 Jul;63(13):3486-9	Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancerrisk in African-American men.		153622	18367	2	2003	Taken together, our results provide some additional support for the hypothesis that selected, rare MSR1 mutations are associated with increased prostate cancer susceptibility among African-American men.	Case:134 African-american men with prostate cancer;Control:340 unaffected controls										
131081	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Seppala, E. H.  et al. 2003	14614006				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2		Finland	CDC GDPinfo	4481	Hs.632045			Clinical cancer research. 2003 Nov;9(14):5252-6	Germ-line alterations in MSR1 gene and prostate cancer risk.		153622	18369	2	2003	 Our results do not support a major role for the MSR1 gene in the causation of hereditary or unselected PRCAs but suggest a possible modifying role in cancer predisposition.	Control:480:controls;Case:537 unselected prostate cancer cases										
131082	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Hope, Q.  et al. 2005	15734964				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2			CDC GDPinfo	4481	Hs.632045			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):397-402	Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer.		153622	18370	2	2005	 Our large-scale analysis of case and controls from several countries found no evidence that the 999C>T mutation is associated with increased risk of prostate cancer. The meta-analysis suggests it is unlikely that this mutation confers more than a 2-fold increased risk.	Control:2,870 male controls;Case:2,943 men with invasive prostate carcinoma, including 401 males from multiple-case families, 1,982 cases unselected for age, and 575 men diagnosed before the age of 56 years										
131075	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671	0.01	Xu J 2003	12471593				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	families with hereditary prostate cancer and patients with non-HPC		KEW	4481	Hs.632045			American journal of human genetics. 2003 Jan;72(1):208-12	Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk.		153622	4596	1	2003	These results consistently suggest that MSR1 may play an important role in prostate carcinogenesis.	Control:250 controls who participated in prostate cancer-screening programs and had normal digital rectal examination and PSA levels (<4 ng/ml);Case:301 patients with non-hereditary prostate cancer										
131077		prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Lindmark F 2004	15042613				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2		Sweden	KGB	4481	Hs.632045			The Prostate. 2004 May;59(2):132-40	Analysis of the macrophage scavenger receptor 1 gene in Swedish hereditary and sporadic prostate cancer.		153622	4598	1	2004	 Our results suggest that mutations in MSR1 gene might play a role in prostate cancer susceptibility, particularly the R293X mutation. This study warrants further investigations of the role of MSR1 in prostate cancer etiology.											
131078	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671		Xu, J.  et al. 2002	12471593				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2			CDC GDPinfo	4481	Hs.632045			American journal of human genetics. 2003 Jan;72(1):208-12	Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk.		153622	18366	2	2002	These results consistently suggest that MSR1 may play an important role in prostate carcinogenesis.	Control:250 controls who participated in prostate cancer-screening programs and had normal digital rectal examination and PSA levels (<4 ng/ml);Case:301 patients with non-hereditary prostate cancer										
131071		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Woods, M. O.  et al. 2005	16203774				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Newfoundland	CDC GDPinfo	2956	Hs.445052			Clinical cancer research. 2005 Oct;11(19 Pt 1):6853-61	High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.		600678	25270	2	2005	 It seems that strong and novel genetic causes of hereditary colorectal cancer are responsible for a high proportion of colorectal cancer in this population. Conditions are suitable for the identification of these genes by linkage studies of large Newfoundland cancer families.											
131072		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p16	MSH6	47863789	47887596		Hegde, M.  et al. 2005	16237223				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDPinfo	2956	Hs.445052			The Journal of molecular diagnostics. 2005 Oct;7(4):525-34	Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.		600678	25271	2	2005												
131074	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671	P = 0.0007	Xu J. 2002	12244320	Arg293X and Asp174Tyr	The truncating mutation Arg293X results in deletion of most of the collagen-like domain. including the ligand-binding region and the cysteine-rich domain. Synthetic mutant MSR1 proteins that are similar to the predicted product of the Arg293X mutation hav	coding sequence	Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	159 families affected with HPC. European and African American descent		KGB	4481	Hs.632045			Nature genetics. 2002 Oct;32(2):321-5			153622	4595	1	2002		Case:764; Control:899										
131068		colorectal cancer	CANCER	CAN	Adenoma|Adenocarcinoma|Colorectal Neoplasms	2	2p16	MSH6	47863789	47887596		Shia, J.  et al. 2005	15613860				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDPinfo	2956	Hs.445052			The American journal of surgical pathology. 2005 Jan;29(1):96-104	Value of Immunohistochemical Detection of DNA Mismatch Repair Proteins in Predicting Germline Mutation in Hereditary Colorectal Neoplasms		600678	25267	2	2005	In conclusion, our study shows that 1) IHC identifies a significant portion of colorectal tumors derived from MMR gene germline mutation carriers and can be used as an adjunct measure in the identification of HNPCC families, but IHC cannot replace MSI testing; 2) adenomas have similar MMR protein expression patterns as carcinomas and may serve as an adequate sample for screening purposes in the identification of patients with MMR mutations; 3) not all IHC-positive cases show uniform positivity throughout the tumor; and 4) weak and focal staining of an MMR protein may be associated with MSI or gene mutation or both, suggesting the need to incorporate staining intensity in further IHC studies.	Cohort 110 patients who had strong family histories of colorectal cancer 										
131069		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p16	MSH6	47863789	47887596		Sarroca, C.  et al. 2005	15952990				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Uruguay	CDC GDPinfo	2956	Hs.445052			Clinical genetics. 2005 Jul;68(1):80-7	Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.		600678	25268	2	2005												
131070		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Neoplasms, Second Primary	2	2p16	MSH6	47863789	47887596		Lawes, D. A.  et al. 2005	16106253				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDPinfo	2956	Hs.445052			British journal of cancer. 2005 Aug;93(4):472-7	The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.		600678	25269	2	2005												
131065		colorectal cancer, hereditary nonpolyposis	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p16	MSH6	47863789	47887596		Vasen, H. F.  et al. 2001	11600610				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Netherlands	CDC GDPinfo	2956	Hs.445052			Journal of clinical oncology. 2001 Oct;19(20):4074-80	MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditarynonpolyposis colorectal cancer families.		600678	25264	2	2001	 Pending large prospective studies, the extension of the current surveillance program in MSH2 mutation carriers with the inclusion of the urinary tract should be considered.	138 families with hereditary nonpolyposis colorectal cancer 										
131066		endometrial cancer	CANCER	CAN	Cystadenocarcinoma, Serous|Carcinoma, Papillary|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Berends, M. J.  et al. 2003	14645426				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDPinfo	2956	Hs.445052			Journal of clinical oncology. 2003 Dec;21(23):4364-70	Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.		600678	25265	2	2003	 In 23% of the young endometrial cancer patients with at least one first-degree relative with an HNPCC-related cancer, an MMR gene mutation was detected. Therefore, presence of an HNPCC-related cancer in a first-degree relative seems to be an important selection criterion for mutation analysis. Subsequent immunostaining of MMR proteins will point to the gene(s) that should be analyzed.	Cohort 58 endometrial cancer patients, diagnosed less than 50 years of age 	family history									
131067	Y	colorectal cancer; endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms|Neoplasms, Multiple Primary	2	2p16	MSH6	47863789	47887596		Cederquist, K.  et al. 2004	14961575				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Sweden	CDC GDPinfo	2956	Hs.445052			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):370-6	Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-basedstudy in northern Sweden		600678	25266	2	2004	We can conclude that patients with microsatellite unstable double primary cancers of the colorectum and the endometrium have a very high risk of carrying a mutation not only in MLH1 or MSH2 but also in MSH6, especially if they get their first cancer diagnosis before the age of 50.	Cohort patients with microsatellite unstable double primary tumours of the colorectum and the endometrium 										
131062		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms	2	2p16	MSH6	47863789	47887596		Peterlongo P 2003	14520694				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			KGB	2956	Hs.445052			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):571-9	MSH6 germline mutations are rare in colorectal cancer families.		600678	3042	1	2003												
131063		colorectal cancer; endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Figer, A.  et al. 2002	12537658				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Israel	CDC GDPinfo	2956	Hs.445052			Genetic testing. 2002 ;6(4):323-6	Mutational analysis of the hMSH6 gene in familial and early-onset colorectal and endometrial cancer in Israeli patients.		600678	18364	2	2002	No patients displayed a truncating mutation, and 1 CRC patient harbored a novel missense mutation (V878A). In addition, 6 previously described polymorphisms were detected. In conclusion, mutations in the hMSH6 gene occur uncommonly in Israeli patients with familial and early-onset CRC and EC.	Cohort 44/23/12/5 patients with early onset (age under 50 years) (n = 44) and familial nonsyndromic (n = 23) CRC, and women with familial clustering of EC or CRC (n = 12), and those diagnosed with EC at, or under, the age of 50 years (n = 5) Israel 										
131064	N	colorectal cancer; endometrial cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Endometrial Neoplasms|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Vahteristo, P.  et al. 2005	15805151				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1	Finnish		CDC GDPinfo	2956	Hs.445052			Journal of medical genetics. 2005 Apr;42(4):e22	No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.		600678	18365	2	2005	 Our results suggest that MSH6 may not be the underlying gene in breast cancer families with a history of colorectal and/or endometrial cancer. The Glu995STOP founder mutation is not a familial breast cancer predisposition allele and makes only a limited contribution to colorectal cancer burden in Finland.	Case:245/142 colorectal (n=245) and breast carcinoma (n=142) patients with a family history of breast, colorectal, and/or endometrial carcinoma:Finland;Control:268 healthy population controls										
131059		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	5	5q11-q12	MSH3	79986049	80208390		Mathonnet, G.  et al. 2003	14625810				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2			CDC GDPinfo	4437	Hs.280987			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		600887	27104	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
131060		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	5	5q11-q12	MSH3	79986049	80208390		Mathonnet, G.  et al. 2003	14510941				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2		Canada	CDC GDPinfo	4437	Hs.280987			British journal of haematology. 2003 Oct;123(1):45-8	Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.		600887	27105	2	2003	This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.	Case:287 French-Canadian children with acut lymphoblastic:leukemia;Control:320 French-Canadian healthy controls										
131061		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	5	5q11-q12	MSH3	79986049	80208390		Krajinovic, M.  et al. 2002	11895912				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2			CDC GDPinfo	4437	Hs.280987			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		600887	28244	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
131056		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Fearnhead, N. S.  et al. 2004	15520370				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(45):15992-7	Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.		120435	27103	2	2004	This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.	Case:124 patients with multiple adenomas;Control:483 random controls										
131057		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Starinsky, S.  et al. 2004	15523694				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Israel	CDC GDPinfo	4436	Hs.156519			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		120435	28088	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
131058	Y	microsatellite instability	CANCER	CAN	Colonic Neoplasms	5	5q11-q12	MSH3	79986049	80208390		Orimo H et al. 2000	10944853				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2			KGB	4437	Hs.280987			Journal of human genetics. 2000 ;45(4):228-30	Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability.		600887	4594	1	2000												
131051		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|DNA Damage|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014			16353134				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			International journal of cancer Journal international du cancer. 2005	Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53		120435	22958	2	2005												
131052		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Chan, T. L.  et al. 2004	15042510				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Chinese	China	CDC GDPinfo	4436	Hs.156519			American journal of human genetics. 2004 May;74(5):1035-42	MSH2 c.1452-1455delAATG Is a Founder Mutation and an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Southern Chinese Population		120435	22959	2	2004	The identification of this MSH2 founder mutation has important implications for the design of mutation-detection strategies for the southern Chinese population. Since there were major emigrations from Hong Kong and Guangdong province during the 19th and 20th centuries, this finding is also significant for Chinese communities worldwide.	Cohort 138 consecutive patients with early onset colorectal cancer 										
131054		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Verma, L.  et al. 2001	11158177				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Journal of medical genetics. 2001 Feb;38(2):E7	Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.		120435	25262	2	2001	In summary, we did not detect evidence to suggest that germline TGFBR2 or CDH1 mutations are a frequent occurrence in patients with early onset colorectal cancer or hereditary nonpolyposis colon cancer syndrome.	Control:30 normal controls;Case:67 patients with early onset colorectal cancer										
131047		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Neoplasms, Second Primary	2	2p22-p21	MSH2	47483766	47760014		Lawes, D. A.  et al. 2005	16106253				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			British journal of cancer. 2005 Aug;93(4):472-7	The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.		120435	22954	2	2005												
131048		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Woods, M. O.  et al. 2005	16203774				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Newfoundland	CDC GDPinfo	4436	Hs.156519			Clinical cancer research. 2005 Oct;11(19 Pt 1):6853-61	High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.		120435	22955	2	2005	 It seems that strong and novel genetic causes of hereditary colorectal cancer are responsible for a high proportion of colorectal cancer in this population. Conditions are suitable for the identification of these genes by linkage studies of large Newfoundland cancer families.											
131049		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Hegde, M.  et al. 2005	16237223				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			The Journal of molecular diagnostics. 2005 Oct;7(4):525-34	Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.		120435	22956	2	2005												
131044	Y	colorectal cancer; endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms|Neoplasms, Multiple Primary	2	2p22-p21	MSH2	47483766	47760014		Cederquist, K.  et al. 2004	14961575				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Sweden	CDC GDPinfo	4436	Hs.156519			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):370-6	Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-basedstudy in northern Sweden		120435	22951	2	2004	We can conclude that patients with microsatellite unstable double primary cancers of the colorectum and the endometrium have a very high risk of carrying a mutation not only in MLH1 or MSH2 but also in MSH6, especially if they get their first cancer diagnosis before the age of 50.	Cohort patients with microsatellite unstable double primary tumours of the colorectum and the endometrium 										
131045		colorectal cancer	CANCER	CAN	Adenoma|Adenocarcinoma|Colorectal Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Shia, J.  et al. 2005	15613860				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			The American journal of surgical pathology. 2005 Jan;29(1):96-104	Value of Immunohistochemical Detection of DNA Mismatch Repair Proteins in Predicting Germline Mutation in Hereditary Colorectal Neoplasms		120435	22952	2	2005	In conclusion, our study shows that 1) IHC identifies a significant portion of colorectal tumors derived from MMR gene germline mutation carriers and can be used as an adjunct measure in the identification of HNPCC families, but IHC cannot replace MSI testing; 2) adenomas have similar MMR protein expression patterns as carcinomas and may serve as an adequate sample for screening purposes in the identification of patients with MMR mutations; 3) not all IHC-positive cases show uniform positivity throughout the tumor; and 4) weak and focal staining of an MMR protein may be associated with MSI or gene mutation or both, suggesting the need to incorporate staining intensity in further IHC studies.	Cohort 110 patients who had strong family histories of colorectal cancer 										
131046		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Sarroca, C.  et al. 2005	15952990				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Uruguay	CDC GDPinfo	4436	Hs.156519			Clinical genetics. 2005 Jul;68(1):80-7	Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.		120435	22953	2	2005												
131041		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Castellvi-Bel, S.  et al. 2005	16003840				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Spanish	Spain	CDC GDPinfo	4436	Hs.156519			Cancer letters. 2005 Jul;225(1):93-8	Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.		120435	22948	2	2005												
131042		colorectal cancer, hereditary nonpolyposis	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Vasen, H. F.  et al. 2001	11600610				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Netherlands	CDC GDPinfo	4436	Hs.156519			Journal of clinical oncology. 2001 Oct;19(20):4074-80	MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditarynonpolyposis colorectal cancer families.		120435	22949	2	2001	 Pending large prospective studies, the extension of the current surveillance program in MSH2 mutation carriers with the inclusion of the urinary tract should be considered.	138 families with hereditary nonpolyposis colorectal cancer 										
131043		endometrial cancer	CANCER	CAN	Cystadenocarcinoma, Serous|Carcinoma, Papillary|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Berends, M. J.  et al. 2003	14645426				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Journal of clinical oncology. 2003 Dec;21(23):4364-70	Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.		120435	22950	2	2003	 In 23% of the young endometrial cancer patients with at least one first-degree relative with an HNPCC-related cancer, an MMR gene mutation was detected. Therefore, presence of an HNPCC-related cancer in a first-degree relative seems to be an important selection criterion for mutation analysis. Subsequent immunostaining of MMR proteins will point to the gene(s) that should be analyzed.	Cohort 58 endometrial cancer patients, diagnosed less than 50 years of age 	family history									
131037		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Domingo, E.  et al. 2004	15342696				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Journal of medical genetics. 2004 Sep;41(9):664-8	BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.		120435	22944	2	2004	 Detection of the V600E mutation in a colorectal MSI-H tumour argues against the presence of a germline mutation in either the MLH1 or MSH2 gene. Therefore, screening of these mismatch repair (MMR) genes can be avoided in cases positive for V600E if no other significant evidence, such as fulfilment of the strict Amsterdam criteria, suggests MMR associated HNPCC. In this context, mutation analysis of the BRAF hotspot is a reliable, fast, and low cost strategy which simplifies genetic testing for HNPCC.	Cohort 206/111 sporadic colorectal cancer cases with high microsatellite instability (n=206) and hereditary non-polyposis colorectal cancer (n=111) 										
131038		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Casey, G.  et al. 2005	15713769				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			JAMA. 2005 Feb;293(7):799-809	Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.		120435	22945	2	2005	 The data confirm the heterogeneity of mismatch repair mutations and reveal that many mutations in colorectal cancer cases would be missed using conventional genomic DNA sequencing alone. Conversion analysis substantially increases the diagnostic yield of genetic testing for mismatch repair mutations in patients diagnosed as having colorectal cancer.	Cohort family members of colorectal cancer patients who participate in the Colon Cancer Family Registry Jun, 2002 - un, 2003 										
131039		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genomic Instability	2	2p22-p21	MSH2	47483766	47760014		Chen, S.  et al. 2005	15831578				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Biostatistics (Oxford, England). 2005 Jul;6(3):450-64	Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study inBayesian meta-analysis of diagnostic tests without a gold standard.		120435	22946	2	2005												
131034		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Taylor, C. F.  et al. 2003	14635101				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Human mutation. 2003 Dec;22(6):428-33	Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrentdeletions by MLPA.		120435	22941	2	2003	We conclude that  MLPA is a cost effective and robust gene dosage method that can be readily adopted by diagnostic services. Comprehensive mutation scanning for MSH2 and MLH1 is incomplete without gene dosage analysis.	Cohort 215 patients referred for genetic testing on the basis of a family history consistent with autosomal dominant hereditary non-polyposis colorectal cancer UK 										
131035		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Keller, M.  et al. 2004	15043284				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Diseases of the colon and rectum. 2004 Feb;47(2):153-62	Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: acomparison of participants and nonparticipants in genetic counseling		120435	22942	2	2004	 Results suggest that expressed intention and attitude toward genetic testing do not reliably predict actual uptake of counseling or testing. Thorough interdisciplinary counseling should be provided to every patient with clinical criteria suggestive of HNPCC. The considerable distress related to the hereditary disorder should be adequately addressed, as should be communication issues.	Cohort consecutively enrolled subjects from a regional tumor registry 1994-1998 										
131036		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Kim, J. C.  et al. 2004	15340264				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Korean	Korea	CDC GDPinfo	4436	Hs.156519			Familial cancer. 2004 ;3(2):129-37	Genotyping Possible Polymorphic Variants of Human Mismatch Repair Genes in Healthy Korean Individuals and Sporadic Colorectal Cancer Patients		120435	22943	2	2004	Among the 27 single nucleotide variants of mismatch repair genes, 12 were suggestive of nonfunctional SNPs and 15 may be colorectal cancer-related mutations. Further verification in other ethnic groups may provide the genotypic and phenotypic significance of single nucleotide variants found in mismatch repair genes.	Case:107 sporadic colorectal cancer patients and 107 of their first-degree relatives;Control:330 healthy individuals										
131031		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Wang, Y. P.  et al. 2003	12930688				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Chinese		CDC GDPinfo	4436	Hs.156519			Zhonghua yi xue za zhi. 2003 Aug;83(15):1326-30	[Mutation analysis on MSH2 and MLH1 genes in patients of colorectal cancer at early age]		120435	22938	2	2003	 Mutations of mismatch repair genes are frequent in Chinese patients of CRC with onset at early ages.	Case:42 Chinese patients aged less than 50 with colorectal:cancer										
131032		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Ovarian Neoplasms|Genital Neoplasms, Female|Endometrial Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Rijcken, F. E.  et al. 2003	14529665				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Gynecologic oncology. 2003 Oct;91(1):74-80	Gynecologic screening in hereditary nonpolyposis colorectal cancer		120435	22939	2	2003	 These results demonstrate that gynecologic screening allows the detection of premalignant lesions of the endometrium but also illustrate that recognition and reporting of clinical symptoms by the women themselves is of utmost importance.	Cohort 41 women, 35 premenopausal and 6 postmenopausal 										
131033		stomach cancer; pancreatic cancer; fallopian cancer	CANCER	CAN	Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease|Rare Diseases	2	2p22-p21	MSH2	47483766	47760014		Levene, S.  et al. 2003	14574163				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Familial cancer. 2003 ;2(1):15-25	Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility?		120435	22940	2	2003	This study supports the premise that the occurrence of rare (especially double primary) cancers does indicate an increased cancer susceptibility, although the numbers of cases ascertained were too small to draw firm conclusions.	Cohort 77 individuals with rare cancers which occur with increased relative risk in carriers of germline BRCA1/BRCA2 (fallopian, young-onset pancreatic) or HNPCC (biliary, small intestinal, urothelial, gallbladder, young-onset pancreatic) mutations 										
131028		colorectal cancer, hereditary nonpolyposis	CANCER	CAN	Colorectal Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Terdiman, J. P.  et al. 2002	11910346				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Gastroenterology. 2002 Apr;122(4):940-7	Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versuspopulation-based registry.		120435	22935	2	2002	 Family history of cancer is an important feature of HNPCC, even among individuals with early onset CRC. Caution must be undertaken when extrapolating data regarding HNPCC from high-risk clinic populations to the general population.	Cohort probands from a population-based Kaiser Permanente (KP) Health Plan cancer registry. Cohort Probands with CRC diagnosed before 36 years of age enrolled in a high-risk CRC clinic at the University of California, San Francisco (UCSF) 										
131029		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Hadley, D. W.  et al. 2003	12622604				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Archives of internal medicine. 2003 Mar;163(5):573-82	Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.		120435	22936	2	2003	 Genetic counseling and testing offers the potential to focus cancer screening resources in individuals truly at increased risk, thereby reducing mortality and morbidity. Fears of discrimination and concerns about psychological and psychosocial issues may present barriers to the use of current cancer prevention strategies, including genetic counseling and testing.	Cohort 111 eligible first-degree relatives of individuals with hereditary nonpolyposis colorectal cancer as part of a cohort study 										
131030		retinal function	UNKNOWN	UNK	Colorectal Neoplasms, Hereditary Nonpolyposis|Retinal Diseases	2	2p22-p21	MSH2	47483766	47760014		Lubinski, W.  et al. 2003	12920342				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Ophthalmic research. 2003 Sep-Oct;35(5):281-94	Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.		120435	22937	2	2003	 Constitutional dysfunction of the inner retina appears to be a characteristic feature of HNPCC gene mutation carriers.	Control:controls;Case:19 carriers of HNPCC genes										
131025	Y	leukemia	CANCER	CAN	Neoplasms|Leukemia	2	2p22-p21	MSH2	47483766	47760014		Worrillow, L. J.  et al. 2003	12912950			intron	MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Clinical cancer research. 2003 Aug;9(8):3012-20	An intron splice acceptor polymorphism in hMSH2 and risk of leukemia after treatment with chemotherapeutic alkylating agents.		120435	12525	2	2003	 Association of the hMSH2 -6 exon 13 variant (C) allele with leukemia after O(6)-guanine alkylating agents implicates this allele in conferring a nondisabling DNA mismatch repair defect with concomitant moderate alkylation tolerance, which predisposes to the development of t-AML via the induction of DNA mismatch repair-disabling mutations and high-grade MSI. Homozygosity for the hMSH2 variant in 2 of 13 MSI-positive t-AML cases provides some support for this model.	Control:837:controls;Case:91/420 therapy-related acute myeloid leukemia cases (n=91) and de novo acute myeloid leukemia cases (n=420)	chemotherapy									
131026	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Anticipation, Genetic	2	2p22-p21	MSH2	47483766	47760014		Guillem, J. G.  et al. 2003	12595050				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Jewish	Europe, Eastern	CDC GDPinfo	4436	Hs.156519			Journal of the American College of Surgeons. 2003 Feb;196(2):222-5	A636P is associated with early-onset colon cancer in Ashkenazi Jews.		120435	18363	2	2003	 Although very rare in the population, MSH2*1906G>C is found at an increased frequency in young Jewish patients with colorectal cancer. These results suggest that testing for the MSH2*1906G>C mutation should be included in the evaluation of Ashkenazi Jewish individuals diagnosed with early-onset colon cancer.	Case:31 Jewish patients age 40 or less, diagnosed with colorectal cancer at Memorial-Sloan-Kettering										
131027		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Terdiman, J. P.  et al. 2001	11208710				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Gastroenterology. 2001 Jan;120(1):21-30	Hereditary Nonpolyposis Colorectal Cancer Gene Carriers by Screening for Tumor Microsatellite Instability Before Germline Genetic Testing		120435	22934	2	2001	 The detection of high-frequency MSI or the loss of MSH2 or MLH1 immunostaining in CRCs are both useful criteria for selecting high-risk patients who should be tested for germline mutations in MSH2 or MLH1.	Case:114 eligible families enrolled in our high-risk colorectal cancer (CRC) registry										
131022		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	2	2p22-p21	MSH2	47483766	47760014		Hishida A 2003	14580774				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Japanese	Ecuador|Japan	KGB	4436	Hs.156519			Cancer genetics and cytogenetics. 2003 Nov;147(1):71-4	Polymorphism in the hMSH2 gene (gIVS 12-6T-->C) and risk of non-Hodgkin lymphoma in a Japanese population.		120435	4593	1	2003												
131023	Y	lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Paz-y-Mino, C.  et al. 2002	11890986	(gIVS12-6T>C)			MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Cancer genetics and cytogenetics. 2002 Feb;133(1):29-33	A polymorphism in the hMSH2 gene (gIVS12-6T>C) associated with non-Hodgkin lymphomas.		120435	12523	2	2002	These results suggest that the polymorphism may be associated with an increased risk to develop NHL and that probably there are differences in the effect of the polymorphisms among populations.	Case:22 individuals with non-Hodgkin lymphomas;Control:50 normal individuals										
131024		leukemia; lymphoma	CANCER	CAN	Leukemia|Lymphoma|Cell Transformation, Neoplastic|Myelodysplastic Syndromes	2	2p22-p21	MSH2	47483766	47760014		Paz-y-Mino, C.  et al. 2003	12688322	(gIVS12-6T>C)			MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Leukemia & lymphoma. 2003 Mar;44(3):505-8	Analysis of the polymorphism [gIVS12-6T > C] in the hMSH2 gene in lymphoma and leukemia.		120435	12524	2	2003	These findings agree with previous research results of other investigation groups. The results suggest a probable association of the polymorphism with the development of lymphomas but not with leukemia.	Cohort 227 samples including lymphoma, leukemia and myelodysplasic syndromes 										
131018	N	Asthma	IMMUNE	IMM	Asthma	11	11q12	MS4A3	59580676	59595164	n	Adra 1999	10450859	TaqI RFLP			Membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006138.4			KCB	932	Hs.99960			Clinical genetics. 1999 Jun;55(6):431-7			606498	1157	1	1999												
131019		hereditary nonpolyposis colon cancer.	CANCER	CAN		2	2p22-p21	MSH2	47483766	47760014		Fishel R et al. 1994	8156592				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			KGB	4436	Hs.156519			Cell. 1994 Apr;77(1):167	The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.		120435	4590	1	1994												
131020		hereditary nonpolyposis colon cancer.	CANCER	CAN	Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Fishel R et al. 1993	8252616				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			KGB	4436	Hs.156519			Cell. 1993 Dec;75(5):1027-38	The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.		609309	4591	1	1993												
131015		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Sharma, S.  et al. 2004	15479187				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Indian	India	CDC GDPinfo	2206	Hs.386748			Clinical genetics. 2004 Nov;66(5):417-25	A_16_C haplotype in the FcepsilonRIbeta gene confers a higher risk for atopic asthma in the Indian population.		147138	18362	2	2004	This is the first study identifying a haplotype A_16_C that predisposes individuals to asthma in the Indian population.	Case unrelated asthma patients from two independent:cohorts;Control healthy volunteers from two independent cohorts										
131016		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Leung, T. F.  et al. 2002	12422339				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Chinese	China	CDC GDPinfo	2206	Hs.386748			Pediatric pulmonology. 2002 Dec;34(6):419-24	Distribution in allele frequencies of predisposition-to-atopy genotypes in Chinese children.		147138	25260	2	2002	Our results demonstrate ethnic differences in polymorphisms of atopy candidate genes. Additional studies involving larger samples are required to investigate the association between asthma or atopy and the genotypes studied to date in Chinese children.	Case:67 Chinese children with asthma:China;Control:70 age- and sex-matched controls										
131017		urticaria/angioedema	OTHER	OTH	Angioedema|Urticaria|Angioedema	11	11q13	MS4A2	59612712	59622592		Choi, J. H.  et al. 2005	15953854				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDPinfo	2206	Hs.386748			Journal of Korean medical science. 2005 Jun;20(3):367-72	Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema.		147138	26426	2	2005												
131013		late-onset airflow obstruction	OTHER	OTH	Asthma|Lung Diseases, Obstructive|Pulmonary Disease, Chronic Obstructive|Eczema	11	11q13	MS4A2	59612712	59622592		Ruse, C. E.  et al. 2003	12919239				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDPinfo	2206	Hs.386748			Journal of the American Geriatrics Society. 2003 Sep;51(9):1265-9	Associations between polymorphisms of the high-affinity immunoglobulin E receptor and late-onset airflow obstruction in older populations.		147138	12522	2	2003	 Serum IgE levels, but not the high-affinity IgE receptor polymorphisms, were associated with late-onset airflow obstruction, suggesting that interaction between environmental and genetic factors controlling serum IgE levels and disease pathogenesis may differ between early- and late-onset airflow obstruction phenotypes.	Control:144:controls;Case:243 cases with late-onset airflow obstruction										
131014		asthma	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592		Cui, T.  et al. 2003	14687477				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Chinese	China	CDC GDPinfo	2206	Hs.386748			Chinese medical journal. 2003 Dec;116(12):1875-8	The association analysis of FcepsilonRIbeta with allergic asthma in a Chinese population.		147138	18361	2	2003	 These results suggest that the Gly237 variant of the FcepsilonRIbeta gene is involved in the development of allergic asthma. The -109C/T and Glu237Gly polymorphisms are two of the genetic factor identified thus far, which affect total plasma IgE levels of allergic asthma patients in a Chinese population.	Control:198 age- and sex-matched controls;Case:216 Chinese allergic asthma patients										
131009	Y	periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic	11	11q13	MS4A2	59612712	59622592		Kobayashi T et al. 2003	12710759				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KGB	2206	Hs.386748			Journal of periodontology. 2003 Mar;74(3):378-84	Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms.		147138	2623	1	2003	 These results show the FcgammaRIIa-R131 allele to be associated with periodontitis risk in SLE patients.											
131010	Y	immunoglobulin E receptor-mediated histamine release from basophils	OTHER	OTH	Asthma	11	11q13	MS4A2	59612712	59622592		Kim YK et al. 2002	11994101				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KGB	2206	Hs.386748			Clinical and experimental allergy. 2002 May;32(5):751-5	Coding single nucleotide polymorphism in the high-affinity immunoglobulin E receptor b chain (FcepsilonRI-beta) gene is associated with immunoglobulin E receptor-mediated histamine release from basophils.		147138	2624	1	2002	 This study supports a role for the FcepsilonRI-beta gene in the expression of high affinity IgE receptor-mediated histamine release from basophils.											
131011		atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Van Hage-Hamsten, M.  et al. 2002	12047428				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Sweden	CDC GDPinfo	2206	Hs.386748			Clinical and experimental allergy. 2002 Jun;32(6):838-42	Associations of Fc epsilon R1-beta polymorphisms with immunoglobin E antibody responses to common inhalant allergens in a rural population.		147138	12520	2	2002	 This study supports the notion that polymorphisms in the Fc epsilon R1-beta gene have significant effects on IgE responsiveness. Secondly, dust mites in rural populations influence the expression of genes on chromosome 11q13.	Cohort 461 adult farmers Gotland, Sweden 	smoking (tobacco)									
131005		Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Shirakawa T 1996	8842731	Ile181Leu			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KGB	2206	Hs.386748			Human molecular genetics. 1996 Aug;5(8):1129-30			147138	2619	1	1996												
131006		Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Shirakawa T 1994	7920628	Ile181Leu			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	British		KGB	2206	Hs.386748			Nature genetics. 1994 Jun;7(2):125-9			147138	2620	1	1994												
131008	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	n	Rohrbach M et al. 1998	10427478				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Swiss	Switzerland	KGB	2206	Hs.386748			Disease markers. 1998 Nov;14(3):177-86	Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.		147138	2622	1	1998	 Our results suggest that the E237G does not have a primary effect on the development of atopy and asthma, and thus excludes the Fc epsilon RI-beta locus from being a candidate gene directly involved in these diseases.											
131001		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Green 1998	9817697	Ile181Leu			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		South Africa	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 1998 Nov;158(5 Pt 1):1487-92			147138	2615	1	1998												
131003		Asthma	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592		Hijazi Z 1998	9611078				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Kuwait	KCB	2206	Hs.386748			Clinical genetics. 1998 Feb;53(2):149-52			147138	2617	1	1998												
131004	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592	n	Soriano 2000	11142503	I181L			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Spain	KCB	2206	Hs.386748			European journal of epidemiology. 2000 ;16(8):745-50			147138	2618	1	2000												
130997	N	Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592	n	Hizawa N 2000	10712341	C-109T			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Japanese	Japan	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 Mar;161(3 Pt 1):906-9			147138	2611	1	2000												
130999		Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q13	MS4A2	59612712	59622592		Palmer LJ 1999	10520086	Rsal_in2*B			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Australian	Australia	KCB	2206	Hs.386748			Clinical and experimental allergy. 1999 Nov;29(11):1555-62			147138	2613	1	1999	 This study supports a role for the FcepsilonR1-beta gene or a nearby gene in the pathogenesis of asthma.											
131000		Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592		Hizawa N 2001	10712341				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 Mar;161(3 Pt 1):906-9			147138	2614	1	2001												
130993	N	Asthma	IMMUNE	IMM	Asthma|Airway Obstruction	11	11q13	MS4A2	59612712	59622592	n	Sandford AJ 2000	10887316				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KCB	2206	Hs.386748			The Journal of allergy and clinical immunology. 2000 Jul;106(1 Pt 1):135-40			147138	2607	1	2000	 These data suggest that the IL4*-589T allele is a risk factor for life-threatening asthma and that the IL4RA*576R allele is a risk factor for a low level of lung function in asthmatic subjects.											
130996	N	Asthma. rhinitis	IMMUNE	IMM	Asthma|Hypersensitivity	11	11q13	MS4A2	59612712	59622592	n	Zhu S 2000	10806171	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Canadian infants (mixed)	Asia	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			147138	2610	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
130989		Hyperresponsiveness	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592		Trabetti E 1998	9719379				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Italy	KGB	2206	Hs.386748			Journal of medical genetics. 1998 Aug;35(8):680-1			147138	2603	1	1998												
130990	Y	Total serum IgE. specific IgE. AR	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	P<0.05	Nagata H 2001	11702205	Glu237Gly			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KGB	2206	Hs.386748			Human genetics. 2001 Sep;109(3):262-6			147138	2604	1	2001												
130991	Y	Hyperresponsiveness	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592	P=0.048	Trabetti E 1998	9719379	i2 RsaI			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Italian	Italy	KGB	2206	Hs.386748			Journal of medical genetics. 1998 Aug;35(8):680-1			147138	2605	1	1998												
130986		Atopic dermatitis	IMMUNE	IMM	Asthma|Dermatitis, Atopic	11	11q13	MS4A2	59612712	59622592		Cox HE 1998	9536245	Rsal_ex7 (+Rsal_in2*B)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KGB	2206	Hs.386748			The British journal of dermatology. 1998 Jan;138(1):182-7			147138	2600	1	1998												
130988	Y	Total serum IgE. specific IgE. AR	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	P<0.05	Nagata H 2001	11702205	Glu237Gly			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Japanese	Japan	KGB	2206	Hs.386748			Human genetics. 2001 Sep;109(3):262-6			147138	2602	1	2001												
130981		Atopy. BHR	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Hill MR1995	12944417	Leu181/Leu183			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KGB	2206	Hs.386748			Human molecular genetics. 2003 Oct;12(20):2577-85			147138	2595	1	1995												
130982		Atopic dermatitis	IMMUNE	IMM	Asthma|Dermatitis, Atopic	11	11q13	MS4A2	59612712	59622592		Cox HE 1998	9536245	Rsal_ex7 (+Rsal_in2*B)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Unknown		KGB	2206	Hs.386748			The British journal of dermatology. 1998 Jan;138(1):182-7			147138	2596	1	1998												
130983		Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592		Hizawa N 2001	10712341				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 Mar;161(3 Pt 1):906-9			147138	2597	1	2001												
130978	N	Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592	n	Hakonarson H 2001	11739132	C-109T			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Icelandic	Iceland	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147138	2592	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
130979	N	Asthma. atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	n	Rohrbach 1998	10427478	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Switzerland	KCB	2206	Hs.386748			Disease markers. 1998 Nov;14(3):177-86			147138	2593	1	1998	 Our results suggest that the E237G does not have a primary effect on the development of atopy and asthma, and thus excludes the Fc epsilon RI-beta locus from being a candidate gene directly involved in these diseases.											
130980		Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q13	MS4A2	59612712	59622592		Palmer LJ 1999	10520086	Rsal_in2*B			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Australia	KCB	2206	Hs.386748			Clinical and experimental allergy. 1999 Nov;29(11):1555-62			147138	2594	1	1999	 This study supports a role for the FcepsilonR1-beta gene or a nearby gene in the pathogenesis of asthma.											
130973		Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Laprise 2000	10941841	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Canada|France	KGB	2206	Hs.386748			Immunogenetics. 2000 Jul;51(9-Aug):695-702			147138	2587	1	2000												
130974		Atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Hill MR 1996	8817330	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Australian	Western Australia	KGB	2206	Hs.386748			Human molecular genetics. 1996 Jul;5(7):959-62			147138	2588	1	1996												
130975		Asthma	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592		Hijazi Z 1998	9611078	Leu181/Leu183			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Kuwaiti Arabs	Kuwait	KCB	2206	Hs.386748			Clinical genetics. 1998 Feb;53(2):149-52			147138	2589	1	1998												
130970	N	Childhood atopic asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592	n	Takabayashi A 2000	10810222				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Japanese		KCB	2206	Hs.386748			Experimental and clinical immunogenetics. 2000 ;17(2):63-70			147138	2584	1	2000												
130971	Y	Total IgE	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592	P=0.0004	Hizawa N 2000	10712341	C-109T			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KGB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 Mar;161(3 Pt 1):906-9			147138	2585	1	2000												
130972	Y	Total IgE	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	11	11q13	MS4A2	59612712	59622592	P=0.0004	Hizawa N 2000	10712341	C-109T			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Japanese	Japan	KGB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 Mar;161(3 Pt 1):906-9			147138	2586	1	2000												
130965		Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Martinati 1996	8630620				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		England|Italy	KGB	2206	Hs.386748			American journal of respiratory and critical care medicine. 1996 May;153(5):1682-5			147138	2579	1	1996												
130967		Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Shirakawa T 1994	7920628	Ile181Leu			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KGB	2206	Hs.386748			Nature genetics. 1994 Jun;7(2):125-9			147138	2581	1	1994												
130968	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592	n	Hakonarson H 2001	11739132	Glu237Gly. A6943G (Ex 7)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Icelandic	Iceland	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147138	2582	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
130961		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	11	11q12	MS4A1	59979857	59994801		Zee, R. Y.  et al. 2002	12082592				Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2			CDC GDPinfo	931	Hs.438040			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		112210	28659	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
130963	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	n	Wilkinson 1999	10224406	Leu181/Leu183			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			KCB	2206	Hs.386748			International archives of allergy and immunology. 1999 Feb-Apr;118(4-Feb):265-7			147138	2577	1	1999	 The linkage results for chromosome 12 justify further interest in this region. Future endeavours will be directed towards fine mapping in the hope of identifying novel candidate genes.											
130964		Total IgE	IMMUNE	IMM	Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592		Hizawa 1995	7616543	Leu181/Leu183			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Japan	KGB	2206	Hs.386748			Journal of medical genetics. 1995 May;32(5):363-9			147138	2578	1	1995												
130958		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12	MS4A1	59979857	59994801		Hijazi, Z.  et al. 2001	11245344				Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2		Kuwait	CDC GDPinfo	931	Hs.438040			Journal of tropical pediatrics. 2001 Feb;47(1):13-6	Influence of consanguinity and IgE receptor genotypes on clinical manifestations of asthma in Kuwaiti children		112210	18358	2	2001	Our data suggest an equal maternal and paternal contribution to the inheritance of asthma and an association of the homozygous variant (Leu 181/Leu 183) of the IgE receptor FcepsilonRIbeta with disease severity.	Cohort 212 subjects from 52 Kuwaiti families in whom at least one person had asthma 										
130959	Y	allergies	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	11	11q12	MS4A1	59979857	59994801		Nagata, H.  et al. 2001	11702205				Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2	Japanese	Japan	CDC GDPinfo	931	Hs.438040			Human genetics. 2001 Sep;109(3):262-6	Association between nasal allergy and a coding variant of the FcepsilonRIbeta gene Glu237Gly in a Japanese population		112210	18359	2	2001	These results suggest that the Glu237Gly variant of the FcepsilonRIbeta gene is involved in the development of nasal allergy through the process for the production of both specific and nonspecific IgE antibodies.	Control:100 control subjects not otherwise specified in:abstract;Case:233 patients with nasal allergy										
130960		myocardial infarction; brain infarction	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Cardiovascular Diseases|Myocardial Ischemia	11	11q12	MS4A1	59979857	59994801		Dai, C.  et al. 2001	11758232				Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2	Chinese		CDC GDPinfo	931	Hs.438040			Zhonghua xue ye xue za zhi. 2001 Sep;22(9):484-7	[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]		112210	22933	2	2001	 Gene mutations as CBS 844ins 68, MS A2756G and MTHFR C677T may not be independent risk factors for ischemic cardiovascular and cerebrovascular disease in Southern Chinese Han population. The prevalences of CBS 844ins 68 and MS A2756G may vary with different ethnic groups or geographic regions.	Control:100 Southern Chinese Han healthy controls;Case:102 patients with brain infarction;Case:73 Southern Chinese Han patients with myocardial:infarction										
130956		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q12	MS4A1	59979857	59994801		Hizawa, N.  et al. 2001	11447385			promoter	Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2			CDC GDPinfo	931	Hs.438040			The Journal of allergy and clinical immunology. 2001 Jul;108(1):74-9	Increased total serum IgE levels in patients with asthma and promoter polymorphisms at CTLA4 and FCER1B.		112210	12519	2	2001	 Our findings suggest that promoter polymorphisms of both CTLA4 and FCER1B are genetic factors that influence total serum IgE levels in patients with asthma. This supports the theory that variance in total serum IgE levels in patients with asthma is determined by mutations in multiple genes, each of which has a relatively small effect on the phenotype.	Control:305 healthy control subjects;Case:339 patients with asthma										
130957	N	asthma	IMMUNE	IMM	Asthma	11	11q12	MS4A1	59979857	59994801		Soriano, J. B.  et al. 2000	11142503				Membrane-spanning 4-domains, subfamily A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152866.2	Spanish	Spain	CDC GDPinfo	931	Hs.438040			European journal of epidemiology. 2000 ;16(8):745-50	Association study of proposed candidate genes/regions in a population of Spanish asthmatics.		112210	18357	2	2000	No association could be observed in this sample of Spanish asthmatics with the genes/regions studied.	Case:146 asthmatic subjects:Barcelona, Spain;Control:50 population controls:Barcelona, Spain										
130952		neuropathy, Charcot-Marie-Tooth	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Takashima, H.  et al. 2001	11545686				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			CDC GDPinfo	4359	Hs.591486			Genetics in medicine. 2001 Sep-Oct;3(5):335-42	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.		159440	25259	2	2001	 DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases.	Cohort 168 patients with Charcot-Marie-Tooth neuropathy 										
130953		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Boerkoel, C. F.  et al. 2002	11835375				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			CDC GDPinfo	4359	Hs.591486			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		159440	27102	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
130954		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	10	10p12.33	MRC1	17891367	17993184		Chan, T. L.  et al. 2004	15042510				Mannose receptor, C type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002438.1	Chinese	China	CDC GDPinfo	4360	Hs.75182			American journal of human genetics. 2004 May;74(5):1035-42	MSH2 c.1452-1455delAATG Is a Founder Mutation and an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Southern Chinese Population		153618	18354	2	2004	The identification of this MSH2 founder mutation has important implications for the design of mutation-detection strategies for the southern Chinese population. Since there were major emigrations from Hong Kong and Guangdong province during the 19th and 20th centuries, this finding is also significant for Chinese communities worldwide.	Cohort 138 consecutive patients with early onset colorectal cancer 										
130948	Y	Charcot-Marie-Tooth type 1B	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Kochanski A 2003	12940837				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			European journal of neurology. 2003 Sep;10(5):547-9	Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.		159440	4587	1	2003												
130949		demyelination	NEUROLOGICAL	NEUR	Demyelinating Diseases|Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Kurihara S 2003	12911457				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4		Japan	KGB	4359	Hs.591486			Acta neurologica Scandinavica. 2003 Sep;108(3):157-60	Axonal and demyelinating forms of the MPZ Thr124Met mutation.		159440	4588	1	2003	 We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations.											
130951		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Lee, Y. C.  et al. 2004	15050444				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4	Taiwanese	Taiwan	CDC GDPinfo	4359	Hs.591486			Journal of the neurological sciences. 2004 Apr;219(2-Jan):95-100	Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1		159440	22929	2	2004	 This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature.	Cohort Taiwanese disease patients who do not have PMP22 duplication 										
130944	Y	clinically distinct Charcot-Marie-Tooth phenotype	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		De Jonghe P et al. 1999	10071056				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			Brain. 1999 Feb;122 ( Pt 2):281-90	The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.		159440	4583	1	1999												
130945	Y	Charcot-Marie-Tooth neuropathy type 1B	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Hayasaka K et al. 1993	7693129				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			Nature genetics. 1993 Sep;5(1):31-4	Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.		159440	4584	1	1993												
130946	Y	Charcot-Marie-Tooth disease type 1B	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Latour P et al. 1995	7550231				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			Human mutation. 1995 ;6(1):50-4	Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.		159440	4585	1	1995												
130947	Y	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease|Pupil Disorders	1	1q22	MPZ	159541150	159546377		Bienfait HM et al. 2002	11801400				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			Neuromuscular disorders. 2002 Mar;12(3):281-5	Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.		159440	4586	1	2002												
130940		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	17	17q23.1	MPO	53702215	53713295		Rocha, V.  et al. 2002	12393699				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		606989	28087	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
130941		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	17	17q23.1	MPO	53702215	53713295		Krajinovic, M.  et al. 2002	11895912				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		606989	28172	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
130943	Y	hereditary stomatocytosis.	OTHER	OTH	Hereditary Motor and Sensory Neuropathies|Anemia, Hemolytic, Congenital	1	1q22	MPZ	159541150	159546377		Takashima H et al. 1999	10399750				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4359	Hs.591486			Neuromuscular disorders. 1999 Jun;9(4):232-8	Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.		159440	4582	1	1999	To our knowledge, these are the first familial cases of DSS with a mutation due to germline mosaicism of the MPZ gene to be reported.											
130937	Y	DNA adducts	OTHER	OTH	Breast Neoplasms	17	17q23.1	MPO	53702215	53713295		Brockstedt, U.  et al. 2002	11943609				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		606989	27100	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 										
130938		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	17	17q23.1	MPO	53702215	53713295		Lehrnbecher, T.  et al. 2005	16107886				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		606989	27101	2	2005												
130939		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Skuladottir, H.  et al. 2005	15829318				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Denmark|Norway	CDC GDPinfo	4353	Hs.458272			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		606989	27554	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
130933		H. pylori infection	INFECTION	INF		17	17q23.1	MPO	53702215	53713295		Matsuo, K.  et al. 2003	12729191				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Epidemiology and infection. 2003 Apr;130(2):227-33	Smoking and polymorphisms of fucosyltransferase gene Le affect success of H. pylori eradication with lansoprazole, amoxicillin, and clarithromycin		606989	26425	2	2003	Although further clarification is necessary, our study indicated that smoking cessation and Le gene polymorphisms may affect the success rate of HP eradication.	Cohort 142 patients with H. pylori infection Japan 	amoxycillin clarithromycin lansoprazole smoking (tobacco)									
130935		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	17	17q23.1	MPO	53702215	53713295		Harms, C.  et al. 2004	15199549				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		606989	27098	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
130936		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Larsen, J. E.  et al. 2005	16195240				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Carcinogenesis. 2005	CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.		606989	27099	2	2005			smoking (tobacco)									
130929	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Kim, Y. J.  et al. 2005	15734083				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			European journal of obstetrics, gynecology, and reproductive biology. 2005 Mar;119(1):42-6	Oxidative stress-related gene polymorphism and the risk of preeclampsia.		606989	26421	2	2005	 Polymorphisms in the oxidative stress-related genes (CYP1A1, GSTM1, GSTT1, MPO, MnSOD) do not seem to be risk factors for preeclampsia.	Case:121 preeclampsia patients;Control:214 healthy controls with an uncomplicated obstetric:history										
130930		benzene toxicity	METABOLIC	MET	Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Wan, J.  et al. 2002	12460800				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Environmental health perspectives. 2002 Dec;110(12):1213-8	Association of genetic polymorphisms in CYP2E1, MPO, NQO1, GSTM1, and GSTT1 genes with benzene poisoning.		606989	26422	2	2002	Our results suggest that the combined effect of polymorphisms in NQO1, CYP2E1, and GSTT1 genes and lifestyle factors might contribute to benzene poisoning.	Control:152 workers occupationally exposed to benzene;Case:156 benezene-poisoning patients South China	alcohol smoking (tobacco)									
130931		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Salama, S. A.  et al. 2002	12355548				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Environmental and molecular mutagenesis. 2002 ;40(3):153-60	Polymorphic metabolizing genes and susceptibility to atherosclerosis among cigarette smokers.		606989	26423	2	2002	Since the analysis of genetic susceptibility factors is still in its infancy, our study may stimulate additional investigations to understand the roles of genetic susceptibility and cigarette smoking in AR.	Case:120 atherosclerosis patients;Control:90 matched controls	smoking (tobacco)									
130925		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Kiffmeyer, W. R.  et al. 2004	14716779				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	4353	Hs.458272			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		606989	25256	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
130926		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid	17	17q23.1	MPO	53702215	53713295		Naoe, T.  et al. 2002	11840286				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Leukemia. 2002 Feb;16(2):203-8	Prognostic significance of the null genotype of glutathione S-transferase-T1 in patients with acute myeloid leukemia: increased early death afterchemotherapy.		606989	25257	2	2002	The null genotype of GSTT1 might be associated with increased toxicity after chemotherapy.	Cohort 193 patients with de novo acute myeloid leukemia (AML) other than M3 	chemotherapy									
130927	Y	cirrhosis	OTHER	OTH	Liver Cirrhosis|Hemochromatosis|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Osterreicher, C. H.  et al. 2005	15885363				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Journal of hepatology. 2005 Jun;42(6):914-9	Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis.		606989	25258	2	2005	 MPO genotype GG is associated with cirrhosis in patients with hereditary hemochromatosis.	Cohort 158 C282Y homozygotes without cofactors for fibrosis 										
130928	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Styczynska, M.  et al. 2003	12782337				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Polish	Poland	CDC GDPinfo	4353	Hs.458272			Neuroscience letters. 2003 Jun;344(2):99-102	Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease.		606989	26420	2	2003	Our results suggest that the APOE epsilon 4 allele is the only known genetic risk factor for late-onset, sporadic AD.	Case:100 cases of late-onset Alzheimer's disease;Control:100 healthy controls										
130921	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Zappia, M.  et al. 2004	15023809				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Italian	Italy	CDC GDPinfo	4353	Hs.458272			Archives of neurology. 2004 Mar;61(3):341-4	Increased risk for Alzheimer disease with the interaction of MPO and A2M polymorphisms.		606989	25252	2	2004	 The MPO and A2M polymorphisms are associated with sporadic AD in southern Italy. Moreover, a genomic interaction between these polymorphisms increases the risk of the development of AD.	Case:148 patients with sporadic Alzheimer's disease Calabria, southern Italy;Control:158 healthy controls										
130922		cutaneous reactions to sulfonamides	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Drug Hypersensitivity	17	17q23.1	MPO	53702215	53713295		Wolkenstein, P.  et al. 2005	16297214				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			The Journal of investigative dermatology. 2005 Nov;125(5):1080-2	Association analysis of drug metabolizing enzyme gene polymorphisms in AIDS patients with cutaneous reactions to sulfonamides.		606989	25253	2	2005												
130924		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Cajas-Salazar, N.  et al. 2003	14626895				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Texas	CDC GDPinfo	4353	Hs.458272			International journal of hygiene and environmental health. 2003 Oct;206(6):473-83	Combined effect of MPO, GSTM1 and GSTT1 polymorphisms on chromosome aberrations and lung cancer risk		606989	25255	2	2003	Therefore, our study strengthens the combined use of genotype and biomarkers for genetic susceptibility to environmental cancer.	Case:110 Caucasian patients with lung cancer;Control:119 matched controls	smoking (tobacco)									
130918	Y	lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Lu, W.  et al. 2002	12397651				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese	China	CDC GDPinfo	4353	Hs.458272			International journal of cancer. Journal international du cancer. 2002 Nov;102(3):275-9	Genetic polymorphism in myeloperoxidase but not GSTM1 is associated with risk of lung squamous cell carcinoma in a Chinese population.		606989	22926	2	2002	Our results confirm the previous reports showing that the variant A allele of MPO has a protective effect against risk of lung cancer.	Case:314 patients with lung cancer;Control:320 frequency-matched controls	smoking (tobacco)									
130919	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Hsieh, Y. Y.  et al. 2004	15299090				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Taiwan	CDC GDPinfo	4353	Hs.458272			Molecular human reproduction. 2004 Oct;10(10):713-7	Glutathione S-transferase M1 *null genotype but not myeloperoxidase promoter G-463A polymorphism is associated with higher susceptibility to endometriosis		606989	22927	2	2004	We conclude that  the GSTM1*null genotype is associated with a higher risk of endometriosis development. MPO-463*G/A gene polymorphism is not related to the susceptibility of endometriosis.	Case:150 women with endometriosis;Control:159 non-endometriosis women										
130920		lung cancer; asthma; emphysema; bronchitis; pneumonia; hay fever	CANCER	CAN	Lung Neoplasms|Asthma|Bronchitis|Pulmonary Emphysema|Pneumonia|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Schabath, M. B.  et al. 2005	15718477				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Texas	CDC GDPinfo	4353	Hs.458272			American journal of epidemiology. 2005 Mar;161(5):412-22	Opposing effects of emphysema, hay fever, and select genetic variants on lung cancer risk.		606989	22928	2	2005	The biologic role of respiratory disease in lung cancer is unclear. Further study may yield new insights for identification of susceptible subgroups.	Control:1,375:controls;Case:1,553 lung cancer patients:1995 - 2003										
130914	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Cocarcinogenesis	17	17q23.1	MPO	53702215	53713295		Hung, R. J.  et al. 2004	14729580				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Carcinogenesis. 2004 Jun;25(6):973-8	Genetic polymorphisms of MPO, COMT, MnSOD, NQO1, interactions with environmental exposures and bladder cancer risk		606989	22922	2	2004	These findings suggest that individual susceptibility of bladder cancer may be modulated by MPO and MnSOD polymorphisms, and that the combination of genetic factors involved in oxidative stress response with environmental carcinogens may play an important role in bladder carcinogenesis.	Case:201 incident bladder cancer cases Brescia, Northern Italy:1997-2000;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons									
130915		agranulocytosis	HEMATOLOGICAL	HEM	Agranulocytosis|Schizophrenia	17	17q23.1	MPO	53702215	53713295		Mosyagin, I.  et al. 2004	15538122				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Journal of clinical psychopharmacology. 2004 Dec;24(6):613-7	Impact of myeloperoxidase and NADPH-oxidase polymorphisms in drug-induced agranulocytosis.		606989	22923	2	2004	Sequencing the entire coding region of the NADPH subunit CYBB (gpS1phase) disclosed that CYBB is a highly conserved gene, which does not represent a risk factor for clozapine-induced agranulocytosis. The impact of the polymorphic myeloperoxidase, however, needs further verification to predict a patient's risk to develop drug-induced agranulocytosis.	Control:controls;Case agranulocytosis patients	clozapine ticlopidine									
130916		agranulocytosis	HEMATOLOGICAL	HEM	Agranulocytosis|Schizophrenia	17	17q23.1	MPO	53702215	53713295		Dettling, M.  et al. 2000	11147929				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Pharmacopsychiatry. 2000 Nov;33(6):218-20	Clozapine-induced agranulocytosis and hereditary polymorphisms of clozapine metabolizing enzymes: noassociation with myeloperoxidase and cytochrome P4502D6.		606989	22924	2	2000	Thus, our data suggest lack of evidence of an association of CA and genetically variable activity of these specific drug metabolizing enzymes; however, this may be due to statistical reasons only. Thus, further studies with greater CA samples are necessary to draw final conclusions about these genetically based hypotheses.	Case:31 schizophrenic patients with clozapine-induced:agranulocytosis;Control:77 chixophrenic subjects without clozapine-induced:agranulocytosis	clozapine									
130910		hyperkeratosis	CANCER	CAN	Arsenic Poisoning|Keratosis|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Ahsan, H.  et al. 2003	14580687				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Bangladesh	CDC GDPinfo	4353	Hs.458272			Cancer letters. 2003 Nov;201(1):57-65	Susceptibility to arsenic-induced hyperkeratosis and oxidative stress genes myeloperoxidase and catalase.		606989	22918	2	2003	Our findings, although based on small numbers, suggest that the oxidative stress genes MPO and CAT may influence the risk of arsenic-induced premalignant hyperkeratotic skin lesions.	Case individuals with arsenic-induced hyperkeratotic skin lesions;Control:controls										
130911		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295			16385446				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			American journal of human genetics. 2006 Jan;78(1):15-27	A testing framework for identifying susceptibility genes in the presence of epistasis		606989	22919	2	2006												
130913	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Lin, S. C.  et al. 2005	15901995				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			European journal of cancer prevention. 2005 Jun;14(3):257-61	Genetic variants of myeloperoxidase and catechol-O-methyltransferase and breast cancer risk.		606989	22921	2	2005	Our results demonstrate that the MPO A/A genotype was associated with a reduced risk of breast cancer (odds ratio (OR) 0.64; 95% confidence interval (CI) 0.11-3.76), whereas there was no overall association of COMT genotype with breast cancer. Of note, an elevated breast cancer risk associated with the increasing numbers of high-risk genotypes of MPO and COMT genes was observed in women with a longer duration between menarche and first full-term pregnancy.	Case Chinese breast cancer cases;Control:controls	menarche pregnancy									
130907		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17q23.1	MPO	53702215	53713295		Olson, S. H.  et al. 2004	15196853				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Gynecologic oncology. 2004 Jun;93(3):615-20	Genetic variants in SOD2, MPO, and NQO1, and risk of ovarian cancer.		606989	19670	2	2004	 While these results need to be confirmed in other studies, they point to a possible role for genes involved in oxidative stress in the development of ovarian cancer.	Case:125 hospital-based ovarian cancer cases;Control:193 hospital-based controls										
130908		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Leininger-Muller, B.  et al. 2003	12946561				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Europe	CDC GDPinfo	4353	Hs.458272			Neuroscience letters. 2003 Oct;349(2):95-8	Myeloperoxidase G-463A polymorphism and Alzheimer's disease in the ApoEurope study.		606989	22916	2	2003	Our results support the hypothesis of a possible linkage disequilibrium between the MPO G-463A gene polymorphism and another functional variant involved in AD.	Control:246 controls from the ApoEurope Study;Case:265 Alzheimer's disease cases from the ApoEurope Study										
130909	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Atrophy	17	17q23.1	MPO	53702215	53713295		Zakrzewska-Pniewska, B.  et al. 2004	15222689				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Polish		CDC GDPinfo	4353	Hs.458272			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Jun;10(3):266-71	Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis.		606989	22917	2	2004	According to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.	Control:100 healthy controls;Case:117 Polish multiple sclerosis patients										
130902	Y	myeloperoxidase activity	METABOLIC	MET		17	17q23.1	MPO	53702215	53713295		Van Schooten, F. J.  et al. 2004	15159316				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):828-33	Myeloperoxidase (MPO) -463G->A Reduces MPO Activity and DNA Adduct Levels in Bronchoalveolar Lavages of Smokers		606989	18347	2	2004	These data provide a plausible biological explanation for the reduced risk for lung cancer as observed in MPO -463AA/AG compared with MPO -463GG subjects.	Cohort 106 smoking Caucasian lung patients 	smoking (tobacco)									
130903		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	17	17q23.1	MPO	53702215	53713295		Hung, R. J.  et al. 2004	15184258				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Italy	CDC GDPinfo	4353	Hs.458272			Cancer epidemiology, biomarkers & prevention. 2004 Jun;13(6):1013-21	Using hierarchical modeling in genetic association studies with multiple markers: application to acase-control study of bladder cancer.		606989	18348	2	2004	 Adding a second-stage hierarchical modeling can reduce the likelihood of false positive via shrinkage toward the prior mean, improve the risk estimation by increasing the precision, and, therefore, represents an alternative to conventional methods for genetic association studies.	Case bladder cancer cases;Control:controls										
130904	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Ahn, J.  et al. 2004	15492293				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer research. 2004 Oct;64(20):7634-9	Myeloperoxidase genotype, fruit and vegetable consumption, and breast cancer risk.		606989	18349	2	2004	Results from this first study of MPO genotypes and breast cancer risk indicate that MPO variants, related to reduced generation of ROS, are associated with decreased breast cancer risk, and emphasize the importance of fruit and vegetable consumption in reduction of breast cancer risk.	Case:1,011 breast cancer cases from the Long Island Breast Cancer Study Project:1996 - 1997;Control:1,067 controls from the Long Island Breast Cancer Study:Project	diet									
130899	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Disease Progression|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Makela, R.  et al. 2003	12861032				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Laboratory investigation; a journal of technical methods and pathology. 2003 Jul;83(7):919-25	Myeloperoxidase gene variation as a determinant of atherosclerosis progression in the abdominal and thoracic aorta: an autopsy study.		606989	18343	2	2003	There were significant interactions of MPO genotype with the mean area of fibrotic (p < 0.01) and calcified (p < 0.05) lesions in the abdominal aorta and in fibrotic lesions in the thoracic aorta (p = 0.003). In the abdominal aorta, men < 53 years with low-expression genotypes had on average a 38.6% larger area of fibrotic lesions and a 43.8% larger area of calcified lesions than did the subjects with the G/G genotype. This association weakened with advancing age. Among men < 53 years, the MPO genotype was an independent predictor of fibrotic (p = 0.037) and calcified (p = 0.001) lesion area in the abdominal aorta after adjustment for age, body mass index, diabetes, hypertension, and smoking. MPO gene variation may modify the extent of advanced atherosclerotic lesions in the human aorta in early middle age.	Cohort 300 autopsied men aged 33 to 69 years (Helsinki Sudden Death Study) 	smoking (tobacco)									
130900		lung cancer	CANCER	CAN	Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Chevrier, I.  et al. 2003	14646692				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Pharmacogenetics. 2003 Dec;13(12):729-39	Myeloperoxidase: new polymorphisms and relationwith lung cancer risk.		606989	18345	2	2003	Linkage analysis showed a strong disequilibrium between -463G>A polymorphism and exonic SNPs. However, the distribution of reconstructed haplotypes did not differ significantly between cases and controls. Further studies need to be performed to investigate the role of these polymorphisms in others diseases.	Case:245 Caucasian lung cancer cases;Control:249:controls										
130901	Y	coronary vasculopathy	CARDIOVASCULAR	CARD		17	17q23.1	MPO	53702215	53713295		Makela, R.  et al. 2004	14730210				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Journal of biomedical science. 2004 Jan-Feb;11(1):59-64	Myeloperoxidase Gene Variation and Coronary Flow Reserve in Young Healthy Men		606989	18346	2	2004	These findings provide evidence that MPO polymorphism is associated with coronary artery reactivity. However, the number of individuals investigated was low and our observation should be confirmed by a larger number of subjects.	Cohort 49 healthy young men with normal or slightly elevated serum total cholesterol 	family history smoking (tobacco)									
130896		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Feyler, A.  et al. 2002	12496042				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer epidemiology, biomarkers & prevention. 2002 Dec;11(12):1550-4	Point: myeloperoxidase -463G --> a polymorphism andlung cancer risk.		606989	18340	2	2002	The meta-analysis restricted to studies comprising	Case:150 lung cancer cases (all Caucasian smokers);Control:172 controls (all Caucasian smokers);Case:2686 lung cancer cases;Control:3325:controls										
130897		lung cancer	CANCER	CAN	Lung Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Xu, L. L.  et al. 2002	12496043				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer epidemiology, biomarkers & prevention. 2002 Dec;11(12):1555-9	Counterpoint: the myeloperoxidase -463G-->apolymorphism does not decrease lung cancer susceptibility in Caucasians.		606989	18341	2	2002	A similar lack of association was seen in analyses stratified by smoking status, median age, a number of smoking variables, disease stage, tumor grade, and histological subtype. These findings are in contrast with earlier studies suggesting a protective effect of carrying the variant A allele.	Control:1128:controls;Case:988 incident Caucasian lung cancer cases	smoking (tobacco)									
130898	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Chlamydia Infections|Diabetic Nephropathies|Kidney Failure, Chronic|Arteriosclerosis	17	17q23.1	MPO	53702215	53713295		Pecoits-Filho, R.  et al. 2003	12694338				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Kidney international Supplement. 2003 May;(84):S172-6	A functional variant of the myeloperoxidase gene is associated with cardiovascular disease in end-stage renal disease patients.		606989	18342	2	2003	Our findings suggest that the -463 G-->A SNP, which supposedly results in lower MPO activity, is associated with a lower prevalence of CVD in ESRD patients. It could be speculated that this effect is mediated by a decreased oxidative stress due to lower production of free radicals.	Cohort 155 end-stage renal disease patients 	Chlamydia pneumoniae									
130892	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Combarros, O.  et al. 2002	12052532				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Spanish	Spain	CDC GDPinfo	4353	Hs.458272			Neuroscience letters. 2002 Jun;326(1):33-6	The myeloperoxidase gene in Alzheimer's disease: acase-control study and meta-analysis.		606989	18336	2	2002	Our study in the Spanish population as well as the meta-analysis argue against the hypothesis that the MPO gene is causally related to AD.	Case:315 sporadic Alzheimer's disease patients:Spain;Control:327 control subjects										
130894	Y	liver disease	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	17	17q23.1	MPO	53702215	53713295		Reynolds, W. F.  et al. 2002	12209361				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Genes and immunity. 2002 Sep;3(6):345-9	A genotypic association implicates myeloperoxidase in the progression of hepatic fibrosis in chronic hepatitis C virus infection.		606989	18338	2	2002	We found that patients with the MPO GA/AA genotype were more likely to have advanced fibrosis scores	Cohort 166 patients with chronic HCV infection 										
130895	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Neoplasms, Squamous Cell|Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Dally, H.  et al. 2002	12432558				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			International journal of cancer. Journal international du cancer. 2002 Dec;102(5):530-5	Myeloperoxidase (MPO) genotype and lung cancer histologic types: The MPO -463 A allele isassociated with reduced risk for small cell lung cancer in smokers		606989	18339	2	2002	In conclusion, our results emphasize the need for a separate analysis of lung cancer histologic types and an adjustment for inflammatory nonmalignant lung diseases in future MPO-related studies. We confirm that the MPO -463 A variant affords a protective effect against lung cancer risk in smokers, which was strongest for SCLC patients.	Control:340 ever-smoking hospital controls;Case:625 ever-smoking lung cancer patients, including 228 adenocarcinomas, 224 SCCs, 135 SCLCs	smoking (tobacco)									
130888	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Liu, G.  et al. 2004	15331175				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer letters. 2004 Oct;214(1):69-79	MPO and SOD2 polymorphisms, gender, and the risk of non-small cell lung carcinoma.		606989	14027	2	2004	No associations were found in men or in women carrying the MPO GG wildtype genotype.	Control:1,119:control;Case:830 non-small cell lung carcinoma patients										
130889		oxidative injury	OTHER	OTH	DNA Damage	17	17q23.1	MPO	53702215	53713295		Park, S. Y.  et al. 2005	16084535				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Mutation research. 2006 Jan;593(2-Jan):108-15	Effect of genetic polymorphisms of MnSOD and MPO on the relationship between PAH exposure and oxidative DNA damage.		606989	14048	2	2005			polycyclic aromatic hydrocarbons									
130890	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	17	17q23.1	MPO	53702215	53713295		Buraczynska, K.  et al. 2003	15068388				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Molecular diagnosis. 2003 ;7(4-Mar):175-80	Polymorphisms of tumor necrosis factor and myeloperoxidase genes in patients with chronic renal failure on peritoneal dialysis.		606989	14350	2	2003	 Our studies show that the TNF and MPO genes may play a role in chronic renal failure. The relationship observed between polymorphisms of the TNF and MPO genes and chronic renal failure may depend on the pathophysiological changes in different diseases underlying renal failure.	Control:115 healthy individuals;Case:95 patients with chronic renal failure										
130884		benzene toxicity	METABOLIC	MET		17	17q23.1	MPO	53702215	53713295		Xu, J. N.  et al. 2003	14761515				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2003 Apr;21(2):86-9	[Effect of the polymorphism of myeloperoxidase gene on the risk of benzene poisoning]		606989	12513	2	2003	 In the same benzene-exposed environment, the subjects with MPO-463 G/G genotype may be more susceptible to benzene toxicity.	Case:35 patients with chronic benzene poisoning;Control:46/26 workers exposed to benzene from the same workplace (n=46) and controls (n=26)										
130886	Y	duodenal ulcer	OTHER	OTH	Gastritis|Duodenal Ulcer|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Hsu, P. I.  et al. 2005	15884126	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			World journal of gastroenterology. 2005 May;11(18):2796-801	Association of the myeloperoxidase -468G-->A polymorphism with gastric inflammation and duodenal ulcer risk.		606989	12515	2	2005	 This work verifies for the first time the association of myeloperoxidase (-468)G-->A polymorphism with antral H pylori density and DU disease. The mechanisms underlying this genetic polymorphism in developing DU disease merit further investigations.	Case:115 consecutive duodenal ulcer patients;Control:182:controls	Helicobacter pylori									
130887		myeloperoxidase activity	METABOLIC	MET	Coronary Artery Disease|Atherosclerosis	17	17q23.1	MPO	53702215	53713295		Chevrier, I.  et al. 2005	16289072				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Atherosclerosis. 2005	Myeloperoxidase genetic polymorphisms modulate human neutrophil enzyme activity: Geneticdeterminants for atherosclerosis?		606989	12516	2	2005	 Since MPO is suspected to be a bio-marker in cardiovascular disease, -638C > A and V53F polymorphisms associated with increased enzymatic activity could be genetic determinants for cardiovascular disease risk.											
130881		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Disease Progression	17	17q23.1	MPO	53702215	53713295		Makela, R.  et al. 2003	12915675			promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3823-8	Effect of long-term hormone replacement therapy on atherosclerosis progression in postmenopausal women relates to myeloperoxidase promoter polymorphism		606989	12510	2	2003	The effects of HRT on atherosclerosis progression in subjects with the GG genotype seem to be especially beneficial compared with controls with the same genotype but without HRT. These results may help us understand in greater detail the benefit and possible risk of HRT in atherosclerotic diseases.	Cohort 87 nonsmoking postmenopausal women, aged 45-71 yr 	hormone replacement therapy									
130882	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Wu, X. M.  et al. 2003	12969520				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese		CDC GDPinfo	4353	Hs.458272			Ai zheng. 2003 Sep;22(9):912-5	[Gene polymorphism of myeloperoxidase and genetic susceptibility to lung cancer]		606989	12511	2	2003	 MPO gene polymorphism was associated with susceptibility of lung cancer in Chinese population. The risk of lung cancer was decreased in the persons carrying allele A.	Control:112 healthy controls;Case:98 cases of primary lung cancer	smoking (tobacco)									
130883		myeloperoxidase activity	METABOLIC	MET		17	17q23.1	MPO	53702215	53713295		Rutgers, A.  et al. 2003	14617020			promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			British journal of haematology. 2003 Nov;123(3):536-8	Neutrophil myeloperoxidase activity and the influence of two single-nucleotide promoter polymorphisms.		606989	12512	2	2003	When studying these polymorphisms in disease, therefore, age and gender should be included in the analysis.	Cohort 243 healthy controls 										
130876	Y	Helicobacter pylori infection; gastritis, Helicobacter pylori-induced	INFECTION	INF	Helicobacter Infections|Gastritis, Atrophic	17	17q23.1	MPO	53702215	53713295		Roe, I.  et al. 2002	12135010	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			The American journal of gastroenterology. 2002 Jul;97(7):1629-34	Association of the myeloperoxidase -463G-->A polymorphism with development of atrophy in Helicobacter pylori-infected gastritis.		606989	12505	2	2002	 These results suggest that myeloperoxidase genotype is a critical determinant in the pathogenesis of atrophic gastritis subsequent to H. pylori infection. More work is needed to clarify the functional relevance of myeloperoxidase genetic polymorphisms to gastric cell injury.	Cohort 127 Korean patients with Helicobacter pylori-infected gastritis 	Helicobacter pylori									
130877	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Lu, W.  et al. 2002	12515618	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese		CDC GDPinfo	4353	Hs.458272			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2002 May;24(3):250-3	[Lung cancer risk associated with genetic polymorphism in myeloperoxidase (-463 G/A) in a Chinese population]		606989	12506	2	2002	 Our data support the hypothesis that -463A polymorphism in the MPO gene may reduce the susceptibility to lung cancer in the Chinese.	Case:314 Chinese lung cancer patients;Control:320 age- and sex-matched controls	smoking (tobacco)									
130878		liver cancer	CANCER	CAN	Hepatoblastoma|Liver Neoplasms	17	17q23.1	MPO	53702215	53713295		Pakakasama, S.  et al. 2003	12800195				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			International journal of cancer. Journal international du cancer. 2003 Aug;106(2):205-7	Myeloperoxidase promotor polymorphism and risk of hepatoblastoma.		606989	12507	2	2003	Our data suggest that A allele is a protective factor with regard to the risk of hepatoblastoma, perhaps by altering genotoxic properties of xenobiotic substances which may act as carcinogens.	Control:180 normal controls;Case:48 cases of Caucasian children with hepatoblastoma										
130873	Y	periodontal disease	IMMUNE	IMM	Periodontal Diseases|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Meisel, P.  et al. 2002	11960308				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Germany	CDC GDPinfo	4353	Hs.458272			Genes and immunity. 2002 Apr;3(2):102-6	Gender and smoking-related risk reduction of periodontal disease with variant myeloperoxidase alleles.		606989	12502	2	2002	The results of this study confirm the assumption that the MPO -463A allele variants are protective in the pathogenesis of periodontal diseases. This holds true only with women but not with men. The results are discussed with respect to the known influences of sexual hormones on MPO activity.	Cohort 1083 subjects randomly selected from the general population in the SHIP study (Study of Health in Pomerania). 	smoking (tobacco)									
130874	Y	vasculitis, antineutrophil cytoplasmic; antibodies-associated small vessel	CARDIOVASCULAR	CARD	Glomerulonephritis|Vasculitis|Churg-Strauss Syndrome|Wegener Granulomatosis	17	17q23.1	MPO	53702215	53713295		Reynolds, W. F.  et al. 2002	12027420	( -463 (G-->A)		promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Clinical immunology (Orlando, Fla). 2002 May;103(2):154-60	-463 G/A myeloperoxidase promoter polymorphism is associated with clinical manifestations and the course of disease in MPO-ANCA-associated vasculitis.		606989	12503	2	2002	These findings suggest that MPO expression levels influence the disease course of MPO-ANCA-associated vasculitis and further support the view that genetic factors are involved in the pathophysiology of this autoimmune disease.	Control:129 ethnically matched controls;Case:142 patients with ANCA-associated small vessel:vasculitis										
130875	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Schabath, M. B.  et al. 2002	12057865				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Lung cancer (Amsterdam, Netherlands). 2002 Jul;37(1):35-40	A myeloperoxidase polymorphism associated with reduced risk of lung cancer.		606989	12504	2	2002	This report provides further support for the hypothesis that a single nucleotide polymorphism in the MPO gene is a protective factor in lung cancer carcinogenesis.	Case:375 Caucasian lung cancer cases;Control:378 Caucasian healthy controls	smoking (tobacco)									
130869	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Reynolds, W. F.  et al. 2000	11087769				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Finnish	Finland	CDC GDPinfo	4353	Hs.458272			Neurology. 2000 Nov;55(9):1284-90	MPO and APOEepsilon4 polymorphisms interact to increase risk for AD in Finnish males		606989	12498	2	2000	 MPO A and APOE epsilon4 alleles interact to increase the risk of AD in men but not in women in this Finnish cohort.	Case:127 patients with AD:Finnish;Control:174:controls		MPO	A	APOE	epsilon4			Y		Alzheimers Disease
130870	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Crawford, F. C.  et al. 2001	11161635				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Caucasian		CDC GDPinfo	4353	Hs.458272			Experimental neurology. 2001 Feb;167(2):456-9	Association between Alzheimer's disease and a functional polymorphism in the Myeloperoxidase gene.		606989	12499	2	2001	In Caucasians we find a significant association between MPO genotype and AD (P = 0.03), although we do not observe any effects of gender or any interaction with the APOE gene. Specifically, the MPO GG genotype contributes a 1.57-fold increased risk for AD. In Hispanics there was no effect of MPO genotype, or of MPO genotype in interaction with age or gender, on diagnosis of AD.	Control:166 Caucasian controls;Case:226 Caucasian AD cases;Case:59 Hispanic AD cases;Control:75 Hispanic controls										
130872	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Kantarci, O. H.  et al. 2002	11794452	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Mayo Clinic proceedings Mayo Clinic. 2002 Jan;77(1):17-22	Myeloperoxidase -463 (G-->A) polymorphism associated with lower risk of lung cancer.		606989	12501	2	2002	 Our results are consistent with previous reports and show that homozygotes of the less common A allele of MPO -463 polymorphism have a 2.6-fold lower risk of lung cancer.	Case:307 patients with primary lung cancer;Control:307 age-, sex-, and ethnicity-matched controls	smoking (tobacco)									
130866	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q23.1	MPO	53702215	53713295		Nikpoor B et al. 2001	11479475				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	French-Canadians	Quebec	KGB	4353	Hs.458272			American heart journal. 2001 Aug;142(2):336-9	A functional myeloperoxidase polymorphic variant is associated with coronary artery disease in French-Canadians.		606989	4579	1	2001	 Our findings suggest that the -463 G/A polymorphism of the MPO gene influences the risk of CAD. This effect may be mediated by the effect of this polymorphism on the transcription level of the MPO gene.											
130867	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	17	17q23.1	MPO	53702215	53713295	<0.05	Reynolds WF et al. 2002	12209361	G binds SP1, A binds ER, ER competes with PPARg (see Kumar Reynolds JBC 2004)	G is higher expressing (8 fold) in monocyte macrophages (Kumar Reynolds JBC 2004); A allele is sometimes linked to greater pathology as it is here	5'promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	mixed ethnic American		KGB	4353	Hs.458272	hepatic fibrosis		Genes and immunity. 2002 Sep;3(6):345-9	A genotypic association implicates myeloperoxidase in the progression of hepatic fibrosis in chronic hepatitis C virus infection.		606989	4580	1	2002	We found that patients with the MPO GA/AA genotype were more likely to have advanced fibrosis scores	Cohort 166 patients with chronic HCV infection										
130868	Y	reduced risk of lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Schabath MB et al. 2002	12057865				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			KGB	4353	Hs.458272			Lung cancer (Amsterdam, Netherlands). 2002 Jul;37(1):35-40	A myeloperoxidase polymorphism associated with reduced risk of lung cancer.		606989	4581	1	2002	This report provides further support for the hypothesis that a single nucleotide polymorphism in the MPO gene is a protective factor in lung cancer carcinogenesis.	Case:375 Caucasian lung cancer cases;Control:378 Caucasian healthy controls	smoking (tobacco)									
130862	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Crawford FC et al. 2001	11161635				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			KGB	4353	Hs.458272			Experimental neurology. 2001 Feb;167(2):456-9	Association between Alzheimer's disease and a functional polymorphism in the Myeloperoxidase gene.		606989	4575	1	2001	In Caucasians we find a significant association between MPO genotype and AD (P = 0.03), although we do not observe any effects of gender or any interaction with the APOE gene. Specifically, the MPO GG genotype contributes a 1.57-fold increased risk for AD. In Hispanics there was no effect of MPO genotype, or of MPO genotype in interaction with age or gender, on diagnosis of AD.	Control:166 Caucasian controls;Case:226 Caucasian AD cases;Case:59 Hispanic AD cases;Control:75 Hispanic controls										
130863	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q23.1	MPO	53702215	53713295		Kantarci OH et al. 2000	10742562			promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			KGB	4353	Hs.458272			Journal of neuroimmunology. 2000 Jun;105(2):189-94	Association of a myeloperoxidase promoter polymorphism with multiple sclerosis.		606989	4576	1	2000	We did not find an association with gender, age at onset, susceptibility to, or the course and severity of MS in a population-based sample of 122 patients from Olmsted County.											
130864		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Misu K et al. 2000	11080237				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4			KGB	4353	Hs.591486			Journal of neurology, neurosurgery, and psychiatry. 2000 Dec;69(6):806-11	An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).		159440	4577	1	2000	 The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.											
130857	Y	MPO -463 A allele	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Matsuo K et al. 2001	11434421				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Japan	KGB	4353	Hs.458272			Journal of epidemiology. 2001 May;11(3):109-14	Possible risk reduction in esophageal cancer associated with MPO -463 A allele.		606989	4570	1	2001	Although there are limitations for interpretation of this study because of prevalent case-control study and partial statistical significance, these results suggest that MPO -463 A allele reduce the risk of esophageal cancer.	Control:241 non-cancer outpatients;Case:91 patients with esophageal cancer										
130859	Y	lung squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Lu W et al. 2002	12397651				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese	China	KGB	4353	Hs.458272			International journal of cancer. Journal international du cancer. 2002 Nov;102(3):275-9	Genetic polymorphism in myeloperoxidase but not GSTM1 is associated with risk of lung squamous cell carcinoma in a Chinese population.		606989	4572	1	2002	Our results confirm the previous reports showing that the variant A allele of MPO has a protective effect against risk of lung cancer.	Case:314 patients with lung cancer;Control:320 frequency-matched controls	smoking (tobacco)									
130860	Y	lung cancer risk	CANCER	CAN	Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Le Marchand L et al. 2000	10698479	463G			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Hawaii|Japan	KGB	4353	Hs.458272			Cancer epidemiology, biomarkers & prevention. 2000 Feb;9(2):181-4	Association of the myeloperoxidase -463G-->a polymorphism with lung cancer risk.		606989	4573	1	2000	Individuals with the A/A genotype were found to be at a 50% decreased risk compared to those with two G alleles (95% confidence interval, 0.2-1.3).											
130854		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	16	16p13.3	MPG	67017	75843		Zienolddiny, S.  et al. 2005	16195237				N-methylpurine-DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002434.2			CDC GDPinfo	4350	Hs.459596			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		156565	28243	2	2005												
130855		platelet count	HEMATOLOGICAL	HEM		1	1p34	MPL	43576061	43592722		Zeng, S. M.  et al. 2004	15307100				Myeloproliferative leukemia virus oncogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005373.1			CDC GDPinfo	4352	Hs.82906			American journal of hematology. 2004 Sep;77(1):21-Dec	Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count.		159530	14253	2	2004	These new SNPs found for the human TPO and TPOR genes help explain variations in blood PLT counts and may be useful in patient studies related to the roles of TPO and/or TPOR in disease.	Cohort 304 normal subjects with low or high plately counts 										
130856	Y	myeloproliferative disorders; thrombocytosis	OTHER	OTH	Thrombocytosis	1	1p34	MPL	43576061	43592722		Moliterno, A. R.  et al. 2004	15269348				Myeloproliferative leukemia virus oncogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005373.1			CDC GDPinfo	4352	Hs.82906			Proceedings of the National Academy of Sciences of the United States of America. 2004 Aug;101(31):11444-7	Mpl Baltimore: a thrombopoietin receptorpolymorphism associated with thrombocytosis.		159530	18334	2	2004	Expression of an Mpl cDNA containing the K39N substitution in cell lines was associated with incomplete processing and a reduction in Mpl protein, recapitulating the Mpl protein defect observed in platelets from individuals with K39N. K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis.	Case chronic myeloproliferative disorder patients;Control:controls										
130851	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p22.1	MOG	29732787	29748128		Ohlenbusch, A.  et al. 2002	12149493				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809			CDC GDPinfo	4340	Hs.141308			Pediatric research. 2002 Aug;52(2):175-9	Myelin Oligodendrocyte Gene Polymorphisms and Childhood Multiple Sclerosis		159465	12497	2	2002	In conclusion, the polymorphisms observed do not provide evidence to support a significant role for MOG in multiple sclerosis susceptibility.	Control:100:controls;Case:75 children with multiple sclerosis										
130852	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.1	MOG	29732787	29748128		Zai, G.  et al. 2005	15660663				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809			CDC GDPinfo	4340	Hs.141308			Genes, brain, and behavior. 2005 Feb;4(1):9-Feb	Genetic study of the myelin oligodendrocyte glycoprotein (MOG) gene in schizophrenia.		159465	18333	2	2005	Although our data are negative, the intriguing hypothesis for MOG in SCZ may warrant further investigation of this gene.	Control age-, sex- and ethnicity-matched healthy controls;Case:182 schizophrenic cases										
130853		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p22.1	MOG	29732787	29748128		Nejentsev, S.  et al. 2000	11118029				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809			CDC GDPinfo	4340	Hs.141308			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		159465	27793	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
130847	N	multiple sclerosis. chldhood	IMMUNE	IMM	Multiple Sclerosis	6	6p22.1	MOG	29732787	29748128	n	Ohlenbusch A	12149493	A total of five unknown polymorphic sites in the promotor region not affecting any of the putative cis-acting transcriptional regulation motifs as well as nine additional base changes in four different exons each with similar distribution in patients and			Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809	German. 75 children with multiple sclerosis		KGB	4340	Hs.141308			Pediatric research. 2002 Aug;52(2):175-9	Myelin Oligodendrocyte Gene Polymorphisms and Childhood Multiple Sclerosis		159465	4566	1	2002	In conclusion, the polymorphisms observed do not provide evidence to support a significant role for MOG in multiple sclerosis susceptibility.	Control:100:controls;Case:75 children with multiple sclerosis										
130848	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p22.1	MOG	29732787	29748128	n	Brown J et al. 1998	9436746				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809		England	KGB	4340	Hs.141308			Journal of neurology, neurosurgery, and psychiatry. 1998 Jan;64(1):135-6	Lack of association of a Taq 1 polymorphism of the human myelin oligodendrocyte glycoprotein gene with multiple sclerosis in a population of patients from the Southampton area.		159465	4567	1	1998												
130850	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p22.1	MOG	29732787	29748128	n	Rodriguez D et al. 1997	9493637				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809			KGB	4340	Hs.141308			Multiple sclerosis (Houndmills, Basingstoke, England). 1997 Dec;3(6):377-81	Identification of a Val I45 Ile substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis. The Reseau de Recherche Clinique INSERM sur la Susceptibilite Genetique a la Sclerose en Plaques.		159465	4569	1	1997	It is therefore unlikely that the MOG Val 145 Ile variant is responsible for genetic susceptibility to MS.											
130844		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		120361	28086	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130845		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	20	20q11.2-q13.1	MMP9	44070953	44078607		Zee, R. Y.  et al. 2002	12082592				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		120361	28658	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
130846		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	4	4q22	MMRN1	91035074	91094803		Mangold, E.  et al. 2005	15849733				Multimerin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007351.2	German		CDC GDPinfo	22915	Hs.268107			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):692-702	Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.		601456	22915	2	2005												
130841		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Li, Y.  et al. 2005	16278009				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Chinese		CDC GDPinfo	4318	Hs.297413			Gynecologic oncology. 2005	Polymorphisms in the promoter regions of the matrix metalloproteinases-1, -3, -7, and -9 and the risk of epithelial ovarian cancer in China.		120361	26419	2	2005	 The study suggested that a possible association between the MMP-7 A/G polymorphism with susceptibility to epithelium ovarian cancer, but there is no support for an association of the selected MMP-1 1G/2G, MMP-3 5A/6A, and MMP-9 C/T polymorphisms with the risk for ovarian cancer.											
130842		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	20	20q11.2-q13.1	MMP9	44070953	44078607			16356191				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		120361	27553	2	2005												
130843		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	20	20q11.2-q13.1	MMP9	44070953	44078607		Shields, D. C.  et al. 2002	12082590				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		120361	27792	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
130838	N	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	20	20q11.2-q13.1	MMP9	44070953	44078607		Zhang, B.  et al. 2001	11546917				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2		England	CDC GDPinfo	4318	Hs.297413			Stroke; a journal of cerebral circulation. 2001 Sep;32(9):2198-202	Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage.		120361	26416	2	2001	 The data do not support the hypothesis that MMP gene variations influence the development of intracranial aneurysms in the population studied.	Control:158 healthy control subjects;Case:92 patients with aneurysmal subarachnoid hemorrhage southern England										
130839		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Aneurysm|Coronary Artery Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Lamblin, N.  et al. 2002	12103254				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of the American College of Cardiology. 2002 Jul;40(1):43-8	Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease.		120361	26417	2	2002	 The MMP-3 5A allele is associated with the occurrence of CA. Our results suggest that an increased proteolysis in the arterial wall may act as a susceptibility factor for the development of CA in patients with coronary atherosclerosis.	Case:113 patients with CAD with at least one coronary:aneurism;Control:226 patients with CAD without coronary aneurism										
130840		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	20	20q11.2-q13.1	MMP9	44070953	44078607		Eriksson, P.  et al. 2005	16082623				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			The British journal of surgery. 2005 Nov;92(11):1372-6	Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.		120361	26418	2	2005	 There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect.											
130835	Y	myocardial infarct; atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Pollanen, P. J.  et al. 2005	15823277				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Atherosclerosis. 2005 May;180(1):73-8	Matrix metalloproteinase3 and 9 gene promoter polymorphisms: joint action of two loci as a riskfactor for coronary artery complicated plaques.		120361	22914	2	2005	 The joint action of two susceptibility loci, rather than single MMP genes alone, and the particular combination of MMP3 and MMP9 genotypes present at these loci may contribute to heterogeneity in the presentation of atherosclerosis.	Cohort 300 autopsied Caucasian males aged 33-69 years (Helsinki Sudden Death Study) 										
130836		acute coronary syndrome	CARDIOVASCULAR	CARD		20	20q11.2-q13.1	MMP9	44070953	44078607		Qin, Q.  et al. 2005	16080811				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):622-6	[Association of matrix metalloproteinase-9 and platelet membrane glycoprotein VI polymorphisms with acute coronary syndrome]		120361	25250	2	2005	 Serum levels of MMP-9 and Fib were independent risk factors of ACS. There was an obvious relationship between the Bbeta-148C/T mutation and high Fib level. No significant difference between controls and ACS patients was found in the frequencies of MMP-9 C-1562T and G5564A, Fib Bbeta-148C/T and GPVI T13254C genotypes and alleles (P > 0.05).											
130837	N	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	20	20q11.2-q13.1	MMP9	44070953	44078607		Joos, L.  et al. 2002	11875051				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Human molecular genetics. 2002 Mar;11(5):569-76	The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.		120361	25251	2	2002	These data suggest that polymorphisms in the MMP1 and MMP12 genes, but not MMP9, are either causative factors in smoking-related lung injury or are in linkage disequilibrium with causative polymorphisms.	Case:284 continuing smokers with fastest rate of decline of lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study;Control:306 continuing smokers with slowest rate of decline in lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study										
130832		angina	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Restenosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Kim, J. S.  et al. 2002	12205736				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Yonsei medical journal. 2002 Aug;43(4):473-81	The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina.		120361	22911	2	2002	Our results show that functional genetic variation of stromelysin-1 could be a significant risk factor for stable angina, and might play an important role in coronary atherosclerosis involving vascular remodeling.	Control:117 control subjects (mean age 59.3 years, 59 males);Case:131 patients with stable ancina (mean age 61.3 years, 89 males):Korea										
130833	Y	left ventricular dysfunction	CARDIOVASCULAR	CARD	Heart Failure|Ventricular Dysfunction, Left	20	20q11.2-q13.1	MMP9	44070953	44078607		Mizon-Gerard, F.  et al. 2004	15084374				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			European heart journal. 2004 Apr;25(8):688-93	Prognostic impact of matrix metalloproteinase gene polymorphisms in patients with heart failure according to the aetiology of left ventricular systolic dysfunction		120361	22912	2	2004	 MMP-3 and MMP-9 polymorphisms contribute to variability in cardiac survival in HF patients. These data suggest that MMP genotyping could provide important additional information for refining risk stratification in patients with heart failure. MMP genotyping may help to select patients who could benefit from MMP inhibition.	Cohort 444 consecutive patients referred for evaluation of left ventricular dysfuntion 										
130834	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Shibata, N.  et al. 2005	15748780				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Japanese	Japan	CDC GDPinfo	4318	Hs.297413			Neurobiology of aging. 2005 Jul;26(7):1011-4	Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease.		120361	22913	2	2005	These results suggest that the common polymorphisms of MMP-9 and MMP-3 investigated here are not associated with AD.	Control:controls;Case Japanese Alzheimer's disease cases										
130829	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Yanchina, E. D.  et al. 2004	15085249				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Bulletin of experimental biology and medicine. 2004 Jan;137(1):64-6	Gene-gene interactions between glutathione-s transferase M1 and matrix metalloproteinase 9 in the formation of hereditary predisposition to chronic obstructive pulmonary disease.		120361	22908	2	2004	The combination of glutathione-S transferase M1 genotype 0/0 and matrix metalloproteinase 9 mutant allele (-15621) is a risk factor for chronic obstructive pulmonary disease (OR-7.7).	Cohort Patients with chronic obstructive pulmonary disease 										
130830	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Zhang, X. M.  et al. 2004	15522165				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Chinese		CDC GDPinfo	4318	Hs.297413			Ai zheng. 2004 Nov;23(11):1233-7	[Association of functional polymorphisms in matrix metalloproteinase-2 (MMP-2) and MMP-9 genes with risk of gastric cancer in a Chinese population.]		120361	22909	2	2004	 MMP-2 -1306T/C and MMP-9 -1562C/T polymorphisms may be associated with genetic susceptibility to gastric cancer.	Case:228 patients with gastric cancer;Control:774 matched healthy controls										
130826		dementia	PSYCH	PSY	Dementia	20	20q11.2-q13.1	MMP9	44070953	44078607		Helbecque, N.  et al. 2003	14550924				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Neuroscience letters. 2003 Oct;350(3):181-3	The role of matrix metalloproteinase-9 in dementia		120361	18329	2	2003	We observed a weak protective effect of the high activity allele (T) in apolipoprotein E epsilon4 allele non-bearers (odds ratio=0.5 (95% confidence interval, 0.3-0.9), P=0.04).	Case:229 demented individuals;Control:253:controls										
130827	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiomyopathies|Coronary Disease|Ventricular Outflow Obstruction|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Medley, T. L.  et al. 2004	15191941				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Arteriosclerosis, thrombosis, and vascular biology. 2004 Aug;24(8):1479-84	Matrix metalloproteinase-9 genotype influences large artery stiffness through effects on aortic gene and protein expression.		120361	18331	2	2004	 Because the T allele was associated with greater MMP-9 mRNA and protein levels, the greater large artery stiffness in T-allele carriers may be secondary to excessive degradation of the arterial elastic matrix. The consequent higher pulse pressure may increase susceptibility to myocardial ischemia.	Cohort 84 patients (73 male) with angiographically defined coronary artery disease 										
130828		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Nelissen, I.  et al. 2002	12127674				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Swedish	Belgium	CDC GDPinfo	4318	Hs.297413			Journal of the neurological sciences. 2002 Aug;200(2-Jan):43-8	Gelatinase B, PECAM-1 and MCP-3 gene polymorphisms in Belgian multiple sclerosis.		120361	22907	2	2002	These results are in agreement with previous findings in the Swedish and Sardinian populations and reinforce the possibility of a role for chemokines in MS pathogenesis.	Control:193 normal controls;Case:216 Belgian clinically definite MS patients										
130823	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Blankenberg, S.  et al. 2003	12668489				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Circulation. 2003 Apr;107(12):1579-85	Plasma concentrations and genetic variation of matrix metalloproteinase 9 and prognosis of patients with cardiovascular disease.		120361	18326	2	2003	 Plasma MMP-9 concentration was identified as a novel predictor of CV mortality in patients with coronary artery disease. Whether it provides independent prognostic information compared with other inflammatory markers will have to be additionally assessed.	Cohort 1,127 patients with documented coronary artery disease 										
130824		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Morgan, A. R.  et al. 2003	12728308				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of molecular medicine (Berlin, Germany). 2003 May;81(5):321-6	Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease.		120361	18327	2	2003	These data, together with the previous finding that the -1562T allele has a higher transcriptional activity than the -1562C allele, support the notion that genetic variation with an effect on MMP-9 expression influences the development and progression of atherosclerosis.	Cohort 1,510 Caucasian subjects undergoing coronary angiography 										
130825	Y	kidney failure, chronic	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Hirakawa, S.  et al. 2003	12830465				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			American journal of kidney diseases. 2003 Jul;42(1):133-42	Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patients		120361	18328	2	2003	 This comprehensive analysis of MMP9 and renal disease suggests a possible role for the (CA)n repeat in renal disease, consistent with previous reports.	Case patients with end stage renal disease;Control:controls										
130820		myocardial infarct; heart disease, ischemic; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Myocardial Infarction	20	20q11.2-q13.1	MMP9	44070953	44078607		Haberbosch, W.  et al. 2005	16179285	(C-1562T)			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Scandinavian journal of clinical and laboratory investigation. 2005 ;65(6):513-22	Gelatinase B C(-1562)T polymorphism in relation to ischaemic heart disease.		120361	12496	2	2005	 Obviously, the gelatinase B C((-1562))T gene polymorphism is not a risk indicator for CAD and MI. With respect to the extent of CHD, the impact of this gene variation may be restricted to individuals with high apolipoprotein B, lipoprotein (a) and/or fibrinogen levels.											
130821	Y	asthma	IMMUNE	IMM	Asthma	20	20q11.2-q13.1	MMP9	44070953	44078607		Lose, F.  et al. 2005	16061701				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Australian	Australia	CDC GDPinfo	4318	Hs.297413			Thorax. 2005 Aug;60(8):623-8	A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women.		120361	14259	2	2005	 This is the first reported association between a polymorphism in the TIMP-1 gene and asthma, and supports the hypothesis that the protease/antiprotease balance has an important role in this common disease.											
130822	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		de Souza, A. P.  et al. 2005	15691353	(G-418C)		promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of clinical periodontology. 2005 Feb;32(2):207-11	Analysis of the MMP-9 (C-1562 T) and TIMP-2 (G-418C) gene promoter polymorphisms in patients with chronic periodontitis.		120361	14264	2	2005	 The results show that the polymorphism in the promoter region of MMP-9 gene is not associated with chronic periodontitis. The high frequency of GG genotype in the TIMP-2 gene promoter in the population studied did not allow any conclusion regarding its effect on chronic periodontitis.	Cohort 100 subjects 										
130817	Y	chronic obstructive pulmonary disease/COPD; emphysema	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema	20	20q11.2-q13.1	MMP9	44070953	44078607		Ito, I.  et al. 2005	16126934			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			American journal of respiratory and critical care medicine. 2005 Dec;172(11):1378-82	Matrix metalloproteinase-9 promoter polymorphism associated with upper lung dominant emphysema.		120361	12493	2	2005	 Polymorphism of MMP-9 (C-1562T) was associated with upper lung dominant emphysema in patients with COPD.											
130818		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Disease Progression|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Fiotti, N.  et al. 2005	16159601				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Atherosclerosis. 2005 Oct;182(2):287-92	MMP-9 microsatellite polymorphism: association withthe progression of intima-media thickening and constrictive remodeling of carotid atherosclerotic plaques.		120361	12494	2	2005												
130819	N	matrix metalloproteinase-9 activity	OTHER	OTH		20	20q11.2-q13.1	MMP9	44070953	44078607		Demacq, C.  et al. 2005	16168399				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Clinica chimica acta; international journal of clinical chemistry. 2006 Mar;365(2-Jan):183-7	Genetic polymorphism of matrix metalloproteinase (MMP)-9 does not affect plasma MMP-9 activity in healthy subjects.		120361	12495	2	2005	 While the present study indicates lack of effect for the C(-1562)T polymorphism on MMP-9 activity in plasma, it is possible that the C(-1562)T polymorphism contributes to an increased cardiovascular risk under conditions of induced MMP-9 expression.											
130814		asthma	IMMUNE	IMM	Asthma	20	20q11.2-q13.1	MMP9	44070953	44078607		Ganter, K.  et al. 2005	16026590				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			International journal of immunogenetics. 2005 Aug;32(4):233-6	Association study of polymorphisms within matrix metalloproteinase 9 with bronchial asthma.		120361	12490	2	2005												
130815	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Hu, Z.  et al. 2005	16061858				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Clinical cancer research. 2005 Aug;11(15):5433-9	Functional polymorphisms of matrix metalloproteinase-9 are associated with risk of occurrence and metastasis of lung cancer.		120361	12491	2	2005	 These findings indicate that the potentially functional polymorphisms, MMP-9 P574R and R279Q, may confer the biomarker in the occurrence and metastasis of primary lung cancer. Further functional studies including these two genetic variants are warranted to confirm our findings.											
130816		coronary artery lesions	CARDIOVASCULAR	CARD	Coronary Artery Disease|Mucocutaneous Lymph Node Syndrome	20	20q11.2-q13.1	MMP9	44070953	44078607		Park, J. A.  et al. 2005	16100452			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of Korean medical science. 2005 Aug;20(4):607-11	Polymorphism of matrix metalloproteinase-3 promoter gene as a risk factor for coronary artery lesions in Kawasaki disease.		120361	12492	2	2005												
130811	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Fiotti, N.  et al. 2005	15834245				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Genetics in medicine. 2005 Apr;7(4):272-7	MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration.		120361	12487	2	2005	 Longer microsatellites in the promoter of MMP-9 are associated to the exudative form of AMD and to body mass index, a well-known risk factor for the disease.	Case:107 patients with age-related macular degeneration;Control:223 age- and gender-matched controls										
130812	N	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Lymphatic Metastasis|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Wang, Y.  et al. 2005	15949868	(C-1562T)		promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Lung cancer (Amsterdam, Netherlands). 2005 Aug;49(2):155-61	No association between the C-1562T polymorphism in the promoter of matrix metalloproteinase-9 gene and non-small cell lung carcinoma.		120361	12488	2	2005			smoking (tobacco)									
130813		acute coronary syndrome	CARDIOVASCULAR	CARD		20	20q11.2-q13.1	MMP9	44070953	44078607		Tang, L.  et al. 2005	15952124	(C-1562T)			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Chinese		CDC GDPinfo	4318	Hs.297413			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):313-6	[Study of relations between matrix metalloproteinase-9 polymorphism (C-1562T) and acute coronary syndrome in Han population of China]		120361	12489	2	2005	 The present findings suggest that the genetic polymorphism in MMP-9 promoter (C-1562-T) is associated with the susceptibility to ACS in the Han population of China. And the C-1562-T polymorphism may not be useful as a predictor of the severity of coronary atherosclerosis.											
130808	Y	myelopathy/tropical spastic paraparesis	OTHER	OTH	Paraparesis, Tropical Spastic	20	20q11.2-q13.1	MMP9	44070953	44078607		Kodama, D.  et al. 2004	15465610			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of neuroimmunology. 2004 Nov;156(2-Jan):188-94	Longer dinucleotide repeat polymorphism in matrix metalloproteinase-9 (MMP-9) gene promoter which correlates with higher HTLV-I Tax mediated transcriptional activity influences the risk of HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP		120361	12482	2	2004	The length alteration of this d(CA) repeat in the MMP-9 promoter may cause phenotypic differences among HTLV-I infected infiltrating cells and may thereby be in part responsible for the development of HAM/TSP.	Control:200 HTLV-I seropositive asymptomatic carriers;Case:200 myelopathy/tropical spastic paraparesis patients										
130809	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Zhou, M.  et al. 2004	15498369				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Chinese	China	CDC GDPinfo	4318	Hs.297413			Chinese medical journal. 2004 Oct;117(10):1481-4	Genetic polymorphism in matrix metalloproteinase-9 and the susceptibility to chronic obstructive pulmonary disease in Han population of south China		120361	12483	2	2004	 The genetic polymorphism in promoters of MMP-9 gene is associated with the susceptibility to COPD in the Han population of South China.	Case:100 chronic obstructive pulmonary disease patients;Control:98 healthy smokers										
130810	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Neoplasm Invasiveness	20	20q11.2-q13.1	MMP9	44070953	44078607		Matsumura, S.  et al. 2005	15565457			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of cancer research and clinical oncology. 2005 Jan;131(1):19-25	A single nucleotide polymorphism in the MMP-9 promoter affects tumor progression and invasive phenotype of gastric cancer.		120361	12485	2	2005	 Our results indicate that the T allele in the MMP-9 promoter is associated with the invasive phenotype of gastric cancer.	Case:177 gastric cancer patients;Control:224 healthy control subjects										
130805	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	20	20q11.2-q13.1	MMP9	44070953	44078607		Krex, D.  et al. 2004	15214991				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Caucasian		CDC GDPinfo	4318	Hs.297413			Neurosurgery. 2004 Jul;55(1):207-12; discussion 212-3	Matrix metalloproteinase-9 coding sequence single-nucleotide polymorphisms in caucasians with intracranial aneurysms.		120361	12479	2	2004	 SNPs of the coding region and the 3' untranslated region of the MMP-9 gene are not associated with intracranial aneurysms in Caucasians.	Case:40 Caucasian patients with at least one intracranial:aneurysm;Control:44 Caucasian controls										
130806		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Fiotti, N.  et al. 2004	15223247				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of neuroimmunology. 2004 Jul;152(2-Jan):147-53	MMP-9 microsatellite polymorphism and multiple sclerosis.		120361	12480	2	2004	No differences were found in the main MRI parameters.	Case:95 patients with multiple sclerosis;Control:95 age- and sex-matched controls										
130807		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Hulkkonen, J.  et al. 2004	15316122				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Rheumatology (Oxford, England). 2004 Dec;43(12):1476-9	Matrix metalloproteinase 9 (MMP-9) gene polymorphism and MMP-9 plasma levels in primary Sjogren's syndrome.		120361	12481	2	2004	 MMP9 (-1562C-->T) could not be used for risk assessment in pSS. The presence of the rarer allele T may decrease the risk of Raynaud's phenomenon in pSS. High plasma MMP-9 is indicative of definite pSS but may paradoxically have a preventive effect on the eruption of purpura and on the development of autoantibody reaction in pSS.	Control:66 healthy subjects;Case:66 patients with primary Sjogren's syndrome										
130802	Y	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Arteriosclerosis|Peripheral Vascular Diseases	20	20q11.2-q13.1	MMP9	44070953	44078607		Jones, G. T.  et al. 2003	14681642	(C-1562T)			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Journal of vascular surgery. 2003 Dec;38(6):1363-7	Functional matrix metalloproteinase-9 polymorphism (C-1562T) associated with abdominal aortic aneurysm.		120361	12476	2	2003	 This study provides further evidence to support the role of MMP-9 in the pathogenesis of AAA, and indicates that the MMP9 C-1562T functional polymorphism may represent a genetic component contributing to susceptibility to this vascular disease.	Case:172 persons with peripheral vascular disease;Control:203 control subjects;Case:414 persons with abdominal aortic aneurysm										
130803	Y	bone density	METABOLIC	MET	Fractures, Bone	20	20q11.2-q13.1	MMP9	44070953	44078607		Yamada, Y.  et al. 2004	14767860				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Japanese	Japan	CDC GDPinfo	4318	Hs.297413			Metabolism:  clinical and experimental. 2004 Feb;53(2):135-7	Association of a polymorphism of the matrix metalloproteinase-9 gene with bone mineral density in Japanese men.		120361	12477	2	2004	No significant differences in BMD among MMP9 genotypes were observed in premenopausal or postmenopausal women. The -1562C-->T polymorphism of MMP9 was thus associated with BMD in Japanese men.	Cohort 1,114/1,087 Japanese men (n=1114) and women (n=1087) 										
130804	N	cervical artery dissection, spontaneous	OTHER	OTH	Carotid Artery, Internal, Dissection|Vertebral Artery Dissection	20	20q11.2-q13.1	MMP9	44070953	44078607		Wagner, S.  et al. 2004	14963289				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e62-4	MMP-9 Polymorphisms Are Not Associated With Spontaneous Cervical Artery Dissection		120361	12478	2	2004	 Alleles of these well-characterized functional polymorphisms of MMP-9 gene are not associated with structural alterations in the matrix of vessels of patients with CAD.	Case:52 patients with cervical artery dissection;Control:52 healthy controls										
130799		coronary artery disease; restenosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Cho, H. J.  et al. 2002	11916008			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Korean		CDC GDPinfo	4318	Hs.297413			Journal of human genetics. 2002 ;47(2):88-91	Functional polymorphism in the promoter region of the gelatinase B gene in relation to coronary artery disease and restenosis after percutaneous coronary intervention.		120361	12473	2	2002	We conclude that  C/C homozygosity is a potential genetic protective factor for coronary artery disease in Koreans.	Case:63 Korean patients with coronary artery disease who underwent both PCI and 6-month follow-up coronary:angiograms;Control:67 control patients with normal CAG										
130800	Y	preterm delivery	OTHER	OTH	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Ferrand, P. E.  et al. 2002	11994547			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	African American		CDC GDPinfo	4318	Hs.297413			Molecular human reproduction. 2002 May;8(5):494-501	A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans.		120361	12474	2	2002	We conclude that  there are cell host-dependent differences in MMP-9 promoter activity related to CA-repeat number and that fetal carriage of the 14 CA-repeat allele is associated with PPROM in African Americans.	Case newborns delivered of mothers who had preterm premature rupture of membranes;Control newborns delivered at term										
130801	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Hemorrhage	20	20q11.2-q13.1	MMP9	44070953	44078607		Montaner, J.  et al. 2003	14605329			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Stroke; a journal of cerebral circulation. 2003 Dec;34(12):2851-5	Safety profile of tissue plasminogen activator treatment among stroke patients carrying a common polymorphism (C-1562T) in the promoter region of the matrix metalloproteinase-9 gene.		120361	12475	2	2003	 Although MMP-9 level predicts PH appearance after tPA treatment, no relationship exists with the C-1562T polymorphism, probably because this mutation is not functional in response to cerebral ischemia in vivo.	Control:59 healthy age-matched control subjects;Case:61 stroke patients who received tissue plasminogen activator less than three hours after stroke onset	tissue plasminogen activator									
130796		atherosclerotic lesions	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Pollanen, P. J.  et al. 2001	11557670				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Arteriosclerosis, thrombosis, and vascular biology. 2001 Sep;21(9):1446-50	Coronary artery complicated lesion area is related to functional polymorphism of matrix metalloproteinase 9 gene: an autopsy study.		120361	12470	2	2001	These data provide evidence that the proposed effect of MMP9 in the process of atherosclerotic lesion development may be modified by the MMP9 genotype.	Cohort 276 coronary lesions in an autopsy cohort of men aged 22-69 										
130797	Y	nephropathy	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	20	20q11.2-q13.1	MMP9	44070953	44078607		Maeda, S.  et al. 2001	11576356				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Kidney international. 2001 Oct;60(4):1428-34	Dinucleotide repeat polymorphism of matrix metalloproteinase-9 gene is associated with diabetic nephropathy.		120361	12471	2	2001	 These results indicate that the patients with A21 allele of the MMP-9 gene may be protected from the development and progression of diabetic nephropathy. Thus, the microsatellite polymorphism upstream of the MMP-9 gene could be a useful genetic marker for diabetic nephropathy.	Cohort 250 type 2 diabetic patients Japan 										
130798	Y	emphysema	CARDIOVASCULAR	CARD	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema	20	20q11.2-q13.1	MMP9	44070953	44078607		Minematsu, N.  et al. 2001	11708786				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2		Japan	CDC GDPinfo	4318	Hs.297413			Biochemical and biophysical research communications. 2001 Nov;289(1):116-9	Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema		120361	12472	2	2001	These results suggest that the polymorphism of MMP-9 acts as a genetic factor for the development of smoking-induced pulmonary emphysema.	Cohort 204 individuals (110 smokers and 94 nonsmokers) Japan 										
130793	N	osseointegrated implant failure	OTHER	OTH		20	20q11.2-q13.1	MMP9	44070953	44078607		Santos MC 2004	14982353	C-1562T		5' promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			KGB	4318	Hs.297413			The International journal of oral & maxillofacial implants. 2004 Jan-Feb;19(1):38-43	Analysis of MMP-1 and MMP-9 promoter polymorphisms in early osseointegrated implant failure.		120361	4562	1	2004	 These results suggest that polymorphism in the promoter region of the MMP-1 gene may be associated with early implant failure, while polymorphism in the promoter region of the MMP-9 gene may not have a relationship with implant loss.											
130794	N	spontaneous cervical artery dissection.	OTHER	OTH	Carotid Artery, Internal, Dissection|Vertebral Artery Dissection	20	20q11.2-q13.1	MMP9	44070953	44078607		Wagner S 2004	14963289				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			KGB	4318	Hs.297413			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e62-4	MMP-9 polymorphisms are not associated with spontaneous cervical artery dissection.		120361	4563	1	2004	 Alleles of these well-characterized functional polymorphisms of MMP-9 gene are not associated with structural alterations in the matrix of vessels of patients with CAD.	Case:52 patients with cervical artery dissection;Control:52 healthy controls										
130795		coronary artery disease	CARDIOVASCULAR	CARD	Angina, Unstable|Coronary Artery Disease|Myocardial Infarction	20	20q11.2-q13.1	MMP9	44070953	44078607		Wang, J.  et al. 2001	11410119				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2		New South Wales	CDC GDPinfo	4318	Hs.297413			Clin Sci (Lond).. 2001 Jul;101(1):87-92	Polymorphism in the gelatinase B gene and the severity of coronary arterial stenosis.		120361	12469	2	2001	In conclusion, our study in a large series of angiographically defined patients suggests that the C-1562T polymorphism may not be useful as a predictor of the presence and severity of coronary atherosclerosis.	Cohort 788 angiographically documented Caucasian patients with coronary artery disease 										
130790		Fetal Membrane Rupture	OTHER	OTH	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Ferrand PE 2001	11994547	???????			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	African Americans		KGB	4318	Hs.297413			Molecular human reproduction. 2002 May;8(5):494-501	A polymorphism in the matrix metalloproteinase-9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans.		120361	4559	1	2001	We conclude that  there are cell host-dependent differences in MMP-9 promoter activity related to CA-repeat number and that fetal carriage of the 14 CA-repeat allele is associated with PPROM in African Americans.	Case newborns delivered of mothers who had preterm premature rupture of membranes;Control newborns delivered at term										
130791		bone mineral density	METABOLIC	MET	Fractures, Bone	20	20q11.2-q13.1	MMP9	44070953	44078607		Yamada Y 2004	14767860				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Japanese	Japan	KGB	4318	Hs.297413			Metabolism:  clinical and experimental. 2004 Feb;53(2):135-7	Association of a polymorphism of the matrix metalloproteinase-9 gene with bone mineral density in Japanese men.		120361	4560	1	2004	No significant differences in BMD among MMP9 genotypes were observed in premenopausal or postmenopausal women. The -1562C-->T polymorphism of MMP9 was thus associated with BMD in Japanese men.	Cohort 1,114/1,087 Japanese men (n=1114) and women (n=1087)										
130792	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	20	20q11.2-q13.1	MMP9	44070953	44078607		Maeda S 2001	11576356				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Japanese		Y Wang	4318	Hs.297413	Complications		Kidney international. 2001 Oct;60(4):1428-34	Dinucleotide repeat polymorphism of matrix metalloproteinase-9 gene is associated with diabetic nephropathy.		120361	4561	1	2001	 These results indicate that the patients with A21 allele of the MMP-9 gene may be protected from the development and progression of diabetic nephropathy. Thus, the microsatellite polymorphism upstream of the MMP-9 gene could be a useful genetic marker for diabetic nephropathy.	Cohort 250 type 2 diabetic patients Japan										
130787		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q21-q22	MMP7	101896448	101906688			16356191				Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDPinfo	4316	Hs.2256			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		178990	27095	2	2005												
130788	Y	premature rupture of membranes	REPRODUCTION	REP	Fetal Membranes, Premature Rupture	11	11q22.3	MMP8	102088539	102100868		Wang, H.  et al. 2004	15367487			promoter	Matrix metallopeptidase 8 (neutrophil collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002424.1			CDC GDPinfo	4317	Hs.161839			Human molecular genetics. 2004 Nov;13(21):2659-69	Functionally significant SNP MMP8 promoter haplotypes and preterm premature rupture of membranes (PPROM).		120355	18325	2	2004	These findings demonstrate the functional significance of SNP haplotypes in the MMP8 gene and associations with obstetrical outcomes.	Case preterm premature rupture of membranes cases;Control:controls										
130789		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	11	11q22.3	MMP8	102088539	102100868		Chiu, C. J.  et al. 2002	12101112				Matrix metallopeptidase 8 (neutrophil collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002424.1		Taiwan	CDC GDPinfo	4317	Hs.161839			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		120355	27096	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid									
130784	Y	coronary artery luminal dimensions	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypercholesterolemia	11	11q21-q22	MMP7	101896448	101906688		Jormsjo, S.  et al. 2001	11701474			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDPinfo	4316	Hs.2256			Arteriosclerosis, thrombosis, and vascular biology. 2001 Nov;21(11):1834-9	Allele-specific regulation of matrix metalloproteinase-7 promoter activity is associated with coronary artery luminal dimensions among hypercholesterolemic patients.		178990	12467	2	2001	In conclusion, the present study identified and characterized 2 common polymorphisms in the promoter region of the MMP-7 gene that are functional in vitro and seem to influence coronary arterial dimensions in hypercholesterolemic patients with manifest coronary artery disease.	Cohort 350 patients undergoing percutaneous transluminal coronary angioplasty 										
130785		lung cancer; esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Heart Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	11	11q21-q22	MMP7	101896448	101906688		Zhang, J.  et al. 2005	15930031			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDPinfo	4316	Hs.2256			Carcinogenesis. 2005 Oct;26(10):1748-53	The functional polymorphism in the matrix metalloproteinase-7 promoter increases susceptibility to esophageal squamous cell carcinoma, gastric cardiac adenocarcinoma and non-small cell lung carcinoma.		178990	12468	2	2005	The study suggested that, the MMP-7 -181A/G polymorphism might be a candidate marker for predicating individuals who are at higher risk to certain tumors but might not be used to predicate potential of lymphatic metastasis in ESCC, GCA and NSCLC.	Case:258/201/243 patients with esophageal squamous cell carcinoma (n=258), patients with gastric cardiac carcinoma (n=201) and patients with non-small cell lung:carcinoma (n=243);Control:350 healthy individuals without cancer	family history									
130786		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q21-q22	MMP7	101896448	101906688		Li, Y.  et al. 2005	16278009				Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3	Chinese		CDC GDPinfo	4316	Hs.2256			Gynecologic oncology. 2005	Polymorphisms in the promoter regions of the matrix metalloproteinases-1, -3, -7, and -9 and the risk of epithelial ovarian cancer in China.		178990	25249	2	2005	 The study suggested that a possible association between the MMP-7 A/G polymorphism with susceptibility to epithelium ovarian cancer, but there is no support for an association of the selected MMP-1 1G/2G, MMP-3 5A/6A, and MMP-9 C/T polymorphisms with the risk for ovarian cancer.											
130781		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	11	11q22.3	MMP3	102211737	102219552		Flex, A.  et al. 2004	15308783				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		185250	27552	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
130782		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		185250	27968	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130778		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Aneurysm|Coronary Artery Disease	11	11q22.3	MMP3	102211737	102219552		Lamblin, N.  et al. 2002	12103254				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of the American College of Cardiology. 2002 Jul;40(1):43-8	Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease.		185250	25247	2	2002	 The MMP-3 5A allele is associated with the occurrence of CA. Our results suggest that an increased proteolysis in the arterial wall may act as a susceptibility factor for the development of CA in patients with coronary atherosclerosis.	Case:113 patients with CAD with at least one coronary:aneurism;Control:226 patients with CAD without coronary aneurism										
130779		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	11	11q22.3	MMP3	102211737	102219552		Eriksson, P.  et al. 2005	16082623				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			The British journal of surgery. 2005 Nov;92(11):1372-6	Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.		185250	25248	2	2005	 There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect.											
130780		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP3	102211737	102219552			16356191				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		185250	26415	2	2005												
130774		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Nohara, H.  et al. 2002	12572877				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese	Japan	CDC GDPinfo	4314	Hs.375129			Journal of gastroenterology. 2002 Nov;37 Suppl 14:107-10	Polymorphisms of the IL-1beta and IL-1beta-inducible genes in ulcerative colitis.		185250	25243	2	2002	 No association of the IL-1beta and three IL-1beta-inducible gene polymorphisms with UC was observed in a Japanese population.	Control:106 ethnically matched controls;Case:96 Japanese patients with ulcerative colitis										
130775		lung cancer	CANCER	CAN	Lung Neoplasms	11	11q22.3	MMP3	102211737	102219552			16311244				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Carcinogenesis. 2005	Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer		185250	25244	2	2005			smoking (tobacco)									
130776	N	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	11	11q22.3	MMP3	102211737	102219552		Zhang, B.  et al. 2001	11546917				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		England	CDC GDPinfo	4314	Hs.375129			Stroke; a journal of cerebral circulation. 2001 Sep;32(9):2198-202	Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage.		185250	25245	2	2001	 The data do not support the hypothesis that MMP gene variations influence the development of intracranial aneurysms in the population studied.	Control:158 healthy control subjects;Case:92 patients with aneurysmal subarachnoid hemorrhage southern England										
130771		coronary artery spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Murase, Y.  et al. 2004	15172469				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese	Japan	CDC GDPinfo	4314	Hs.375129			European heart journal. 2004 Jun;25(11):970-7	Genetic risk and gene-environment interaction in coronary artery spasm in Japanese men and women.		185250	25240	2	2004	 The NADH/NADPH oxidase p22 phox gene is a susceptibility locus for coronary artery spasm in men, and the stromelysin-1 and interleukin-6 genes are susceptibility loci in women.	Control:1,595 controls (762 men, 833 women);Case:593 subjects with coronary artery spasm (453 men, 140:women)										
130772	Y	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Saarela, M. S.  et al. 2004	15337261				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Finland	CDC GDPinfo	4314	Hs.375129			Neuroscience letters. 2004 Sep;367(3):336-9	Interaction between matrix metalloproteinase 3 and the 4 allele of apolipoprotein E increases the risk of Alzheimer's disease in Finns		185250	25241	2	2004	In conclusion, our finding suggests that the MMP3 gene, especially together with APOE 4, may contribute to the development of AD.	Control:101 control patients;Case:97/52 Alzheimer's diease (n=97) and Parkinson's disease:(n=62) patients										
130773	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Dorr, S.  et al. 2004	15142265				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Arthritis research & therapy. 2004 ;6(3):R199-207	Association of a specific haplotype across the genes MMP1 and MMP3 with radiographic joint destruction in rheumatoid arthritis.		185250	25242	2	2004	Our findings suggest that there are haplotypes in a MMP cluster region that modify the joint destruction in RA in a phasic manner.	Control:110:controls;Case:308 rheumatoid arthritis patients										
130768	N	celiac disease	IMMUNE	IMM	Celiac Disease	11	11q22.3	MMP3	102211737	102219552		Louka, A. S.  et al. 2002	12229968				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Swedish	Norway|Sweden	CDC GDPinfo	4314	Hs.375129			Scandinavian journal of gastroenterology. 2002 Aug;37(8):931-5	Coeliac disease candidate genes: no associationwith functional polymorphisms in matrix metalloproteinase 1 and 3 gene promoters.		185250	22904	2	2002	 We did not find significant evidence to support an association of MMP-3 allele 5A or MMP-1 allele 2G with coeliac disease in Norwegian and Swedish populations.	Control:160 independent healthy controls from the Norwegian Bone Marrow Donor Registry;Case:225/102 combined (Norwegian and Swedish) simplex families										
130769		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Shan, K.  et al. 2005	15879464				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		China	CDC GDPinfo	4314	Hs.375129			Molecular human reproduction. 2005 Jun;11(6):423-7	The function of the SNP in the MMP1 and MMP3 promoter in susceptibility to endometriosis in China.		185250	22905	2	2005	We conclude that  the MMP1 promoter SNP and MMP 2G/6A haplotype may modify susceptibility to endometriosis, but that the MMP3 promoter SNP is unlikely to be associated with endometriosis in the population of North China.											
130770		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Li, Y.  et al. 2005	16278009				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Chinese		CDC GDPinfo	4314	Hs.375129			Gynecologic oncology. 2005	Polymorphisms in the promoter regions of the matrix metalloproteinases-1, -3, -7, and -9 and the risk of epithelial ovarian cancer in China.		185250	22906	2	2005	 The study suggested that a possible association between the MMP-7 A/G polymorphism with susceptibility to epithelium ovarian cancer, but there is no support for an association of the selected MMP-1 1G/2G, MMP-3 5A/6A, and MMP-9 C/T polymorphisms with the risk for ovarian cancer.											
130765		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis	11	11q22.3	MMP3	102211737	102219552		Zinzindohoue, F.  et al. 2005	15701845				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Clinical cancer research. 2005 Jan;11(2 Pt 1):594-9	Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer.		185250	22901	2	2005	 In the subgroups of nondistant metatastic patients (stages I and II, and stages I-III), an inverse relation between the number of MMP-1-1607insG allele and survival was observed suggesting a gene dosage effect. Our results are consistent with the importance of MMP-1-1607ins/delG functional polymorphism in regulating transcription level and with the relationship between MMP-1 expression and cancer invasion, metastasis, and prognosis.	Cohort 201 colorectal cancer patients 										
130766		ovarian cancer	CANCER	CAN		11	11q22.3	MMP3	102211737	102219552		Li, Y.  et al. 2005	16080875				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Zhonghua fu chan ke za zhi. 2005 Jul;40(7):472-5	[Association of single nucleotide polymorphism in matrix metalloproteinases promoter with susceptibility to ovarian cancer]		185250	22902	2	2005	 MMP-1 and MMP-3 promoter polymorphism is not associated with the susceptibility to ovarian cancer.											
130767		endometriosis; adenomyosis	REPRODUCTION	REP		11	11q22.3	MMP3	102211737	102219552		Kang, S.  et al. 2005	16202315				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Zhonghua fu chan ke za zhi. 2005 Sep;40(9):601-4	[Single nucleotide polymorphism in the matrix metalloproteinases promoter is associated with susceptibility to endometriosis and adenomyosis.]		185250	22903	2	2005	 Individuals with the MMP-1 2G alleletype have significantly increased risk of developing EM and adenomyosis; MMP-3 promoter SNP is not associated with susceptibility to EM and adenomyosis, 2G/6A haplotype could be used as a stratified marker for EM.											
130762	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Itagaki, M.  et al. 2004	15312099				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese	Japan	CDC GDPinfo	4314	Hs.375129			Journal of clinical periodontology. 2004 Sep;31(9):764-9	Matrix metalloproteinase-1 and -3 gene promoter polymorphisms in Japanese patients with periodontitis.		185250	22898	2	2004	 Our data did not support the hypothesis that MMP-1 and/or MMP-3 gene promoter polymorphisms influenced the susceptibility to periodontitis in Japanese patients, indicating MMP-1 and MMP-3 expressions were regulated by complex processes such as cytokine network in periodontal disease rather than gene polymorphisms.	Control:142 healthy Japanese subjects;Case:37/205 Japanese non-smoking generalised aggressive (n=37) and slight-to-severe generalised:chronic-periodontitis (n=205) patients										
130763	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Hirata, H.  et al. 2004	15319295				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Japan	CDC GDPinfo	4314	Hs.375129			Carcinogenesis. 2004 Dec;25(12):2379-84	Association of a haplotype of matrix metalloproteinase (MMP)-1 and MMP-3 polymorphisms with renal cell carcinoma.		185250	22899	2	2004	These findings suggest that this haplotype of MMP-1 and MMP-3 variants may be associated with the risk of developing RCC.	Case:156 renal cell carcinoma cases;Control:230 age- and gender-matched controls										
130764	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Fang, S.  et al. 2004	15528217				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		China	CDC GDPinfo	4314	Hs.375129			Carcinogenesis. 2005 Feb;26(2):481-6	Polymorphisms in the MMP1 and MMP3 promoter and non-small cell lung carcinoma in North China.		185250	22900	2	2004	The present result suggested that the MMP3 promoter polymorphism may modify susceptibility to NSCLC, and the MMP 1G/5A haplotype may predicate the risk of lymphatic metastasis of this tumor.	Case:243 non-small cell lung carcinoma cases North China;Control:350:controls	smoking (tobacco)									
130759		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	11	11q22.3	MMP3	102211737	102219552		Hashimoto, T.  et al. 2004	15194213				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Cancer letters. 2004 Jul;211(1):19-24	Association of matrix metalloproteinase (MMP)-1 promoter polymorphism with head and neck squamous cell carcinoma.		185250	22895	2	2004	These data suggest that the MMP-1 promoter polymorphism may be associated with HNSCC.	Case head and neck squamous cell carcinoma patients;Control healthy age- and sex-matched controls										
130760	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Zinzindohoue, F.  et al. 2004	15274394				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Anticancer research. 2004 May-Jun;24(3b):2021-6	Single nucleotide polymorphisms in MMP1 and MMP3 gene promoters as risk factor in head and neck squamous cell carcinoma.		185250	22896	2	2004	The haplotype analysis suggested an implication of both MMP1 and MMP3 polymorphisms in the head and neck squamous cell carcinoma susceptibility. Indeed, the presence of the MMP1-2G and MMP3-6A alleles seemed to be associated with decreased risk of head and neck squamous cell carcinoma but mainly when they were carried by the same haplotype. By comparison to the 1G-5A haplotype, the 2G-6A haplotype was associated with a lower risk of head and neck squamous cell carcinoma (OR=0.52 95%CI [0.34-0.80], p=0.003).	Case:126 male head and neck cancer patients;Control:249 male hospitalized-based controls										
130761	N	ulcerative colitis; cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Wiencke, K.  et al. 2004	15288468				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Norway	CDC GDPinfo	4314	Hs.375129			Journal of hepatology. 2004 Aug;41(2):209-14	Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients.		185250	22897	2	2004	 We found no general associations of the MMP-1 and MMP-3 genes to PSC or UC among Norwegian patients, but specific alleles were associated to subsets of PSC patients with UC and cholangiocarcinoma. The results support the theory of genetic heterogeneity among PSC patients.	Case:118 Norwegian ulcerative cholitis patients;Control:346 healthy controls										
130756	Y	carotid artery stenosis	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP3	102211737	102219552		Ghilardi, G.  et al. 2002	12364729				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Stroke; a journal of cerebral circulation. 2002 Oct;33(10):2408-12	Matrix Metalloproteinase-1 and Matrix Metalloproteinase-3 Gene Promoter Polymorphisms Are Associated With Carotid Artery Stenosis		185250	22892	2	2002	 Homozygosity for the 6A allele of the MMP-3 promoter is associated with carotid stenosis and, in association with MMP-1 2G homozygosity, predicts an increased risk of ICA stenosis. Even if obtained from a relatively limited patient series, these results might have relevant implications for treatment of ICA stenosis and possibly prevention of carotid-related stroke.	Control:133 subjects without internal carotid artery stenosis;Case:91 patients consecutively recruited for internal carotid artery stenosis										
130757	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	11	11q22.3	MMP3	102211737	102219552		Hinoda, Y.  et al. 2002	12432557				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese		CDC GDPinfo	4314	Hs.375129			International journal of cancer. Journal international du cancer. 2002 Dec;102(5):526-9	Association of functional polymorphisms of matrix metalloproteinase (MMP)-1 and MMP-3 genes with colorectal cancer		185250	22893	2	2002	Our present data suggest that the MMP-1 and MMP-3 promoter polymorphisms may be associated with a colorectal cancer susceptibility in Japanese.	Case:101 Japanese patients with colorectal cancer;Control:127 age- and gender-matched healthy volunteers										
130758		breast cancer	CANCER	CAN	Adenocarcinoma|Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Ghilardi, G.  et al. 2002	12473595				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Clinical cancer research. 2002 Dec;8(12):3820-3	A single nucleotide polymorphism in the matrix metalloproteinase-3 promoter enhances breast cancer susceptibility.		185250	22894	2	2002	 Although this should be considered only as a pilot study, our results suggest that the presence of 5A polymorphism at the MMP-3 promoter region may represent an unfavorable prognostic feature in breast cancer patients associated with more invasive disease.	Control:110 Italian age-matched tumor-free women;Case:86 Italian women operated on for breast cancer and followed for 6-30 months (median follow-up, 21:months):Italy										
130753	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	11	11q22.3	MMP3	102211737	102219552		Constantin, A.  et al. 2002	12124858				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Arthritis and rheumatism. 2002 Jul;46(7):1754-62	Stromelysin 1 (matrix metalloproteinase 3) and HLA-DRB1 gene polymorphisms: Association withseverity and progression of rheumatoid arthritis in a prospective study.		185250	22889	2	2002	 This study provides the first evidence of an association between a polymorphism in the MMP-3 gene promoter and the severity and progression of RA, but not RA susceptibility. Investigation of this polymorphism could be combined with that of DRB1 gene polymorphism to improve the predictive accuracy and management strategy in early RA.	Case:103 Patients with early rheumatoid arthritis;Control:127 healthy unrelated individuals										
130754		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP3	102211737	102219552		Rauramaa, R.  et al. 2000	11116068				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Finland	CDC GDPinfo	4314	Hs.375129			Arteriosclerosis, thrombosis, and vascular biology. 2000 Dec;20(12):2657-62	Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis.		185250	22890	2	2000	These data suggest that genetic factors that predispose to reduced matrix remodeling (stromelysin 6A allele) and to increased inflammation (IL-6 G allele) combine to increase susceptibility for intima-media thickening in the carotid bifurcation, a predilection site for atherosclerosis.	Cohort 109 randomly selected, middle-aged men without exercise-induced ischemia 	smoking (tobacco)									
130755		intima-media thickness, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP3	102211737	102219552		Rundek, T.  et al. 2002	11988625				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		New York City	CDC GDPinfo	4314	Hs.375129			Stroke; a journal of cerebral circulation. 2002 May;33(5):1420-3	Carotid intima-media thickness is associated with allelic variants of stromelysin-1, interleukin-6, and hepatic lipase genes: the Northern ManhattanProspective Cohort Study.		185250	22891	2	2002	 Carotid IMT is higher among subjects homozygous for functional variants in genes related to matrix deposition (MMP3 -16126A), inflammation (IL6 -174G), and lipid metabolism (HL -480C). These associations were independent of race-ethnicity and some environmental exposures. Further studies are needed to confirm these genotype-phenotype associations.	Cohort 87 subjects (mean age, 70+/-12 years; 55% women; 60% Caribbean-Hispanic, 25% black, and 13% white) from the Northern Manhattan Prospective Cohort Study 										
130750		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Samnegard, A.  et al. 2005	16238676			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of internal medicine. 2005 Nov;258(5):411-9	Serum matrix metalloproteinase-3 concentration is influenced by MMP-3 -1612 5A/6A promoter genotype and associated with myocardial infarction.		185250	18323	2	2005												
130751		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Yamada, Y.  et al. 2002	12477941				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			The New England journal of medicine. 2002 Dec;347(24):1916-23	Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.		185250	22887	2	2002	 Determination of the genotypes of the connexin 37, plasminogen-activator inhibitor type 1, and stromelysin-1 genes may prove reliable in predicting the genetic risk of myocardial infarction and might thus contribute to the primary prevention of this condition.	Control:2242 unrelated Japanese controls (1306 men and 936:women);Case:2819 unrelated Japanese patients with myocardial infarction (2003 men and 816 women)										
130752		hypertension; lung cancer; abdominal aortic aneurysm	CANCER	CAN	Myocardial Infarction|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Lanfear, D. E.  et al. 2004	15234427				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	African American, European Americans	United States	CDC GDPinfo	4314	Hs.375129			Journal of the American College of Cardiology. 2004 Jul;44(1):165-7	Genotypes associated with myocardial infarction risk are more common in African Americans than in European Americans.		185250	22888	2	2004	 We found higher frequencies of disease-associated genotypes in AA than in EA. Our results also show that more AA than EA carry multiple risk-associated genotypes. Future studies need to assess whether such genetic profiles predict adverse outcomes in U.S. populations and contribute to racial disparities in CVD burden.	Control;Case:95/95 healthy African Americans (n=95) and 95 healthy European Americans (n=95)										
130747		esophageal cancer; gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Zhang, J.  et al. 2004	15319302			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Carcinogenesis. 2004 Dec;25(12):2519-24	The functional SNP in the matrix metalloproteinase-3 promoter modifies susceptibility and lymphatic metastasis in esophageal squamous cell carcinoma but not in gastric cardiac adenocarcinoma.		185250	18320	2	2004	gastric cardiac adenocarcinoma	Control:350:controls;Case:417 cancer patients (234 esophageal squamous cell carcinoma and 183 gastric cardiac adenocarcinoma) North China	family history									
130748	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Zhou, X.  et al. 2004	15467919				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Chinese	China	CDC GDPinfo	4314	Hs.375129			Thrombosis and haemostasis. 2004 Oct;92(4):867-73	Haplotype analysis of the matrix metalloproteinase 3 gene and myocardial infarction in a Chinese Han population. The Beijing atherosclerosis study		185250	18321	2	2004	We conclude that  the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.	Case:509 patients with myocardial infarction;Control:518 healthy controls										
130749	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Jin, L.  et al. 2004	15546966				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Rheumatology (Oxford, England). 2005 Jan;44(1):55-60	Lack of association of matrix metalloproteinase 3 (MMP3) genotypes with ankylosing spondylitis susceptibility and severity.		185250	18322	2	2004	 These data suggest that MMP3 genotypes are not involved in AS susceptibility or severity.	Case:131 sporadic ankylosing spondylitis cases;Control:87 Caucasian controls										
130744	Y	aortic stenosis	CARDIOVASCULAR	CARD		11	11q22.3	MMP3	102211737	102219552		Medley, T. L.  et al. 2003	12750310				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Circulation research. 2003 Jun;92(11):1254-61	Matrix metalloproteinase-3 genotype contributes to age-related aortic stiffening through modulation of gene and protein expression.		185250	18317	2	2003	We conclude that  MMP-3 genotype may be an important determinant of vascular remodeling and age-related arterial stiffening, with the heterozygote having the optimal balance between matrix accumulation and deposition.	Cohort 203 (135 male) low cardiovascular risk, unmedicated individuals who were divided prospectively into two groups (30 to 60 years, n=126; > or =61 years, n=77) 										
130745	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Beyzade, S.  et al. 2003	12821236				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of the American College of Cardiology. 2003 Jun;41(12):2130-7	Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction.		185250	18318	2	2003	 These data indicate that the effect of MMP3 gene variation is attributable to the 5A/6A polymorphism and that individuals carrying the 6A/6A genotype may be predisposed to developing atherosclerotic plaques with significant stenosis, whereas those carrying the 5A allele may be predisposed to developing unstable plaques.	Cohort 1,240 individuals undergoing coronary angiography 										
130740	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Mora, B.  et al. 2005	15993717			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Human immunology. 2005 Jun;66(6):716-20	Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects.		185250	12464	2	2005												
130741		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Liu, P. Y.  et al. 2005	16102106	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of thrombosis and haemostasis. 2005 Sep;3(9):1998-2005	Stromelysin-1 promoter 5A/6A polymorphism is an independent genetic prognostic risk factor and interacts with smoking cessation after index premature myocardial infarction.		185250	12465	2	2005	 We thus conclude that the stromelysin-1 gene polymorphism alone or in combination with smoking cessation can influence the prognosis after index premature MI.		smoking (tobacco)									
130743		hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11q22.3	MMP3	102211737	102219552		Djuric, T.  et al. 2005	16302209	G894T			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of clinical laboratory analysis. 2005 ;19(6):241-6	Endothelial NOS G894 T and MMP-3 5A/6A gene polymorphisms and hypertension in Serbian population.		185250	12896	2	2005												
130737	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Shibata, N.  et al. 2005	15748780				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese	Japan	CDC GDPinfo	4314	Hs.375129			Neurobiology of aging. 2005 Jul;26(7):1011-4	Genetic association between matrix metalloproteinase MMP-9 and MMP-3 polymorphisms and Japanese sporadic Alzheimer's disease.		185250	12461	2	2005	These results suggest that the common polymorphisms of MMP-9 and MMP-3 investigated here are not associated with AD.	Control:controls;Case Japanese Alzheimer's disease cases										
130738		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Fang, S. M.  et al. 2005	15757531				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Ai zheng. 2005 Mar;24(3):305-10	[Correlation of matrix metalloproteinase-3 polymorphism to genetic susceptibility and lymph node metastasis of non-small cell lung cancer]		185250	12462	2	2005	 The 5A allele of MMP-3 might be associated with the increased susceptibility to NSCLC among smokers. The 5A homozygote might increase the risk of lymphatic metastasis in NSCLC patients.	Case:173 non-small cell lung cancer cases;Control:350 healthy controls	smoking (tobacco)									
130739	Y	myocardial infarct; atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Pollanen, P. J.  et al. 2005	15823277			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Atherosclerosis. 2005 May;180(1):73-8	Matrix metalloproteinase3 and 9 gene promoter polymorphisms: joint action of two loci as a riskfactor for coronary artery complicated plaques.		185250	12463	2	2005	 The joint action of two susceptibility loci, rather than single MMP genes alone, and the particular combination of MMP3 and MMP9 genotypes present at these loci may contribute to heterogeneity in the presentation of atherosclerosis.	Cohort 300 autopsied Caucasian males aged 33-69 years (Helsinki Sudden Death Study) 										
130734	N	breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Krippl, P.  et al. 2004	15161710	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Clinical cancer research. 2004 May;10(10):3518-20	The 5A/6A polymorphism of the matrix metalloproteinase 3 gene promoter and breast cancer.		185250	12458	2	2004	 The MMP3 5A/6A promoter polymorphism does not appear to influence breast cancer susceptibility but may be linked to a higher risk for metastasizing among breast cancer patients.	Case:500 patients with histologically confirmed breast:cnacer;Control:500 female, age-matched, healthy control subjects from population-based screening										
130735		atherosclerosis, coronary	CARDIOVASCULAR	CARD		11	11q22.3	MMP3	102211737	102219552		Gao, B.  et al. 2004	15355616	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Zhongguo wei zhong bing ji jiu yi xue. 2004 Sep;16(9):536-9	[Association between serum matrix metalloproteinase-3 concentration and the promoter 5A/6A polymorphism in patients with coronary heart disease]		185250	12459	2	2004	 No marked association could be found between 5A/6A polymorphism in MMP-3 gene and risk of CHD and AMI. Higher serum level of MMP-3 is strong associated with AMI, while not with number of coronary arteries that are involved in CHD. These data suggest that MMP-3 is a useful marker for AMI, and it might play an important role in the induction of disruption of atherosclerosis plaque.	Control:106 control subjects without coronary heart disease;Case:137 coronary heart disease patients divided into acute myocardial infarction (AMI)group, unstable angina pectoris (UAP) group and stable angina (SA) group										
130736	Y	blood pressure, arterial; atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension	11	11q22.3	MMP3	102211737	102219552		Beilby, J. P.  et al. 2005	15716694			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of hypertension. 2005 Mar;23(3):537-42	Stromelysin-1 (MMP-3) gene 5A/6A promoter polymorphism is associated with blood pressure in a community population.		185250	12460	2	2005	 The stromelysin-1 5A-1171-6A genotype is an important determinant of blood pressure in this general population sample.	Cohort 1,111 randomly selected male and female community subjects (27-77 years) 										
130731	N	ovarian cancer	CANCER	CAN	Adenocarcinoma|Ovarian Neoplasms	11	11q22.3	MMP3	102211737	102219552		Smolarz, B.  et al. 2003	14998290			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Polish journal of pathology. 2003 ;54(4):233-8	PCR analysis of matrix metalloproteinase 3 (MMP-3) gene promoter polymorphism in ovarian cancer.		185250	12455	2	2003	The results suggest that the 5A/6A polymorphism of MMP-3 gene may not be linked with appearance and/or progression of ovarian cancer.	Control:controls;Case:118 postmenopausal women with node-negative and node-positive ovarian cancer										
130732	Y	left ventricular dysfunction	CARDIOVASCULAR	CARD	Heart Failure|Ventricular Dysfunction, Left	11	11q22.3	MMP3	102211737	102219552		Mizon-Gerard, F.  et al. 2004	15084374				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			European heart journal. 2004 Apr;25(8):688-93	Prognostic impact of matrix metalloproteinase gene polymorphisms in patients with heart failure according to the aetiology of left ventricular systolic dysfunction		185250	12456	2	2004	 MMP-3 and MMP-9 polymorphisms contribute to variability in cardiac survival in HF patients. These data suggest that MMP genotyping could provide important additional information for refining risk stratification in patients with heart failure. MMP genotyping may help to select patients who could benefit from MMP inhibition.	Cohort 444 consecutive patients referred for evaluation of left ventricular dysfuntion 										
130733	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	11	11q22.3	MMP3	102211737	102219552		Blons, H.  et al. 2004	15102660				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Clinical cancer research. 2004 Apr;10(8):2594-9	Matrix metalloproteinase 3 polymorphism: apredictive factor of response to neoadjuvant chemotherapy in head and neck squamous cell carcinoma.		185250	12457	2	2004	 This work showed that genotyping the MMP3 gene enhancer polymorphism -1612insA could help predict chemosensitivity in head and neck cancer patients.	Cohort 148 head and neck cancer patients 										
130728		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Humphries, S. E.  et al. 2002	12485468	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Annals of human genetics. 2002 Nov;66(Pt 5-6):343-52	Interaction between smoking and the stromelysin-1 (MMP3) gene 5A/6A promoter polymorphism and risk of coronary heart disease in healthy men.		185250	12452	2	2002	The data indicate a key role for stromelysin in the atherosclerotic process. Men with the stromelysin genotype 5A5A represent 29% of the general population, and their high risk, if smokers, provides a further strong argument for smoking avoidance.	Cohort 2743 middle-aged men, free of CHD at baseline, recruited through nine general practices UK 	smoking (tobacco)									
130729		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Liu, P. Y.  et al. 2003	12876636	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		China|Taiwan	CDC GDPinfo	4314	Hs.375129			Thrombosis and haemostasis. 2003 Jul;90(1):132-9	Synergistic effect of stromelysin-1 (matrix metallo-proteinase-3) promoter 5A/6A polymorphism with smoking on the onset of young acute myocardial infarction.		185250	12453	2	2003	We can conclude that there was a significant association between the 5A/6A polymorphism in the promoter region of stromelysin-1 gene and young MI in Taiwan. A synergistic effect between smoking and this polymorphism for the premature onset of MI had been shown in this study.	Case:150 consecutive patients with acute MI onset at age under 45 years (84% men);Control:150 sex- and age-matched controls	smoking (tobacco)									
130730		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis	11	11q22.3	MMP3	102211737	102219552		Hoppmann, P.  et al. 2004	14984923	5A6A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			European heart journal. 2004 Feb;25(4):335-41	The 5A/6A polymorphism of the stromelysin-1 gene and restenosis after percutaneous coronary interventions.		185250	12454	2	2004	 Our data strongly suggest that the 5A/6A polymorphism of the stromelysin-1 gene is not related to angiographic restenosis or the 1-year clinical outcome after interventions in coronary arteries.	Cohort 3,333 consecutive patients with symptomatic coronary artery disease 	angioplasty stent implantation									
130725		coronary artery calcification	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Coronary Disease|Calcinosis	11	11q22.3	MMP3	102211737	102219552		Pollanen, P.  et al. 2002	12204805				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Finland	CDC GDPinfo	4314	Hs.375129			Atherosclerosis. 2002 Oct;164(2):329-35	Coronary artery calcification is related to functional polymorphism of matrix metalloproteinase 3: the Helsinki Sudden Death Study.		185250	12449	2	2002	These data provide evidence that the proposed effect of MMP3 in the process of atherogenesis may be modified by the MMP3 genotype.	Cohort 300 middle-aged white Finnish men (aged 35-69 years) from the Helsinki Sudden Death Study 										
130726		angina	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Restenosis	11	11q22.3	MMP3	102211737	102219552		Kim, J. S.  et al. 2002	12205736				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Yonsei medical journal. 2002 Aug;43(4):473-81	The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina.		185250	12450	2	2002	Our results show that functional genetic variation of stromelysin-1 could be a significant risk factor for stable angina, and might play an important role in coronary atherosclerosis involving vascular remodeling.	Control:117 control subjects (mean age 59.3 years, 59 males);Case:131 patients with stable ancina (mean age 61.3 years, 89 males):Korea										
130727	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22.3	MMP3	102211737	102219552		Szyllo, K.  et al. 2002	12385578			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of experimental & clinical cancer research. 2002 Sep;21(3):357-61	The promoter polymorphism of the matrix metalloproteinase 3 (MMP-3) gene in women with ovarian cancer.		185250	12451	2	2002	The results suggest that the 5A/6A polymorphism of MMP-3 gene may not be linked with appearance and development to ovarian cancer.	Case ovarian cancer patients;Control:controls										
130722	Y	degeneration of intervertebral discs	AGING	AGE	Spinal Diseases	11	11q22.3	MMP3	102211737	102219552		Takahashi, M.  et al. 2001	11380116			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			The Journal of bone and joint surgery  British volume. 2001 May;83(4):491-5	The association of degeneration of the intervertebral disc with 5a/6a polymorphism in the promoter of the human matrix metalloproteinase-3 gene.		185250	12445	2	2001	Our findings indicate that the 5A allele is a possible risk factor for the acceleration of degenerative changes in the lumbar disc in the elderly.	Cohort 103 54 young and 49 elderly subjects Japan 										
130723	Y	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Satsangi, J.  et al. 2001	11438501				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Gastroenterology. 2001 Jul;121(1):124-30	A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis.		185250	12446	2	2001	 Stromelysin polymorphism may influence susceptibility and disease progression in PSC.	Case:52 primary sclerosing cholangitis patients (43 with inflammatory bowel disease [IBD]);Control:99 healthy subjects										
130724	Y	restenosis	OTHER	OTH	Coronary Stenosis|Coronary Restenosis	11	11q22.3	MMP3	102211737	102219552		Humphries, S.  et al. 2002	11977998	5A6A		promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		France	CDC GDPinfo	4314	Hs.375129			European heart journal. 2002 May;23(9):721-5	The 5A6A polymorphism in the promoter of the stromelysin-1 (MMP3) gene as a risk factor for restenosis		185250	12447	2	2002	 These data imply the involvement of MMP3 in chronic remodelling after conventional balloon angioplasty, and suggest that the 6A6A MMP3 genotype is a genetic susceptibility factor for restenosis after angioplasty without stenting.	Cohort 198/287 a series of consecutive patients who underwent conventional balloon coronary angioplasty without stenting (n=287) or who also had successful implantation of a Palmaz-Schatz stent (stent) (n=198) 										
130719	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	11	11q22.3	MMP3	102211737	102219552		Constantin A et al. 2002	12124858				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			KGB	4314	Hs.375129			Arthritis and rheumatism. 2002 Jul;46(7):1754-62	Stromelysin 1 (matrix metalloproteinase 3) and HLA-DRB1 gene polymorphisms: Association with severity and progression of rheumatoid arthritis in a prospective study.		185250	4555	1	2002	 This study provides the first evidence of an association between a polymorphism in the MMP-3 gene promoter and the severity and progression of RA, but not RA susceptibility. Investigation of this polymorphism could be combined with that of DRB1 gene polymorphism to improve the predictive accuracy and management strategy in early RA.	Case:103 Patients with early rheumatoid arthritis;Control:127 healthy unrelated individuals										
130720	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Hirashiki A 2003	14563588	1171/5A36A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Japanese low risk women	Japan	KGB	4314	Hs.375129			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		185250	4556	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
130721	Y	colorectal cancer.	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	11	11q22.3	MMP3	102211737	102219552		Hinoda Y et al. 2002	12432557				matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			KGB	4314	Hs.375129			International journal of cancer. Journal international du cancer. 2002 Dec;102(5):526-9	Association of functional polymorphisms of matrix metalloproteinase (MMP)-1 and MMP-3 genes with colorectal cancer.		185250	4557	1	2002												
130716	Y	Restenosis	OTHER	OTH	Coronary Stenosis|Coronary Restenosis	11	11q22.3	MMP3	102211737	102219552	?	Humphries S 2002	11977998	5A or 6A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		France	KGB	4314	Hs.375129			European heart journal. 2002 May;23(9):721-5	The 5A6A polymorphism in the promoter of the stromelysin-1 (MMP3) gene as a risk factor for restenosis		185250	4552	1	2002	 These data imply the involvement of MMP3 in chronic remodelling after conventional balloon angioplasty, and suggest that the 6A6A MMP3 genotype is a genetic susceptibility factor for restenosis after angioplasty without stenting.	Cohort 198/287 a series of consecutive patients who underwent conventional balloon coronary angioplasty without stenting (n=287) or who also had successful implantation of a Palmaz-Schatz stent (stent) (n=198)										
130717	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Rupture|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552	p < 0.0001	Terashima M 1999	10351963				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			KGB	4314	Hs.375129			Circulation. 1999 Jun;99(21):2717-9			185250	4553	1	1999	 The 5A/6A polymorphism in the promoter of the stromelysin gene is a novel pathogenetic risk factor for AMI.	Case:330; Control:330										
130718	Y	stroke	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP3	102211737	102219552		Ghilardi G et al. 2002	12364729			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			KGB	4314	Hs.375129			Stroke; a journal of cerebral circulation. 2002 Oct;33(10):2408-12	Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis.		185250	4554	1	2002	 Homozygosity for the 6A allele of the MMP-3 promoter is associated with carotid stenosis and, in association with MMP-1 2G homozygosity, predicts an increased risk of ICA stenosis. Even if obtained from a relatively limited patient series, these results might have relevant implications for treatment of ICA stenosis and possibly prevention of carotid-related stroke.	Control:133 subjects without internal carotid artery stenosis;Case:91 patients consecutively recruited for internal carotid artery stenosis										
130713	N	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	10	10q26.2	MMP21	127445015	127454380		Shagisultanova, E. I.  et al. 2004	15015597	572C/T			Matrix metallopeptidase 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147191.1			CDC GDPinfo	118856	Hs.314141			Anticancer research. 2004 Jan-Feb;24(1):199-201	The matrix metalloproteinase-21 gene 572C/T polymorphism and the risk of breast cancer.		608416	12444	2	2004	 The MMP-21 gene 572C/T polymorphism has no significant effect on the development and progression of breast cancer.	Control:320 disease-free blood donors;Case:76 Russian breast cancer patients										
130714	Y	carotid artery atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP3	102211737	102219552	P=0.015	Rauramaa R 2000	11116068	5A/6A polymorphism of the stromelysin-1 promoter		5`promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Finnish men	Finland	KGB	4314	Hs.375129			Arteriosclerosis, thrombosis, and vascular biology. 2000 Dec;20(12):2657-62	Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis.		185250	4550	1	2000	These data suggest that genetic factors that predispose to reduced matrix remodeling (stromelysin 6A allele) and to increased inflammation (IL-6 G allele) combine to increase susceptibility for intima-media thickening in the carotid bifurcation, a predilection site for atherosclerosis.	Cohort 109 randomly selected, middle-aged men without exercise-induced ischemia	smoking (tobacco)									
130715	Y	Primary Sclerosing Cholangitis	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552	?	Satsangi J 2001	11438501	5A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			KGB	4314	Hs.375129			Gastroenterology. 2001 Jul;121(1):124-30	A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis.		185250	4551	1	2001	 Stromelysin polymorphism may influence susceptibility and disease progression in PSC.	Case:52 primary sclerosing cholangitis patients (43 with inflammatory bowel disease [IBD]);Control:99 healthy subjects										
130710		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		120360	27791	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130711		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Barton, A.  et al. 2002	11981324				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		120360	28562	2	2002	Review article											
130707		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Aneurysm|Coronary Artery Disease	16	16q13-q21	MMP2	54070588	54098104		Lamblin, N.  et al. 2002	12103254				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Journal of the American College of Cardiology. 2002 Jul;40(1):43-8	Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease.		120360	22885	2	2002	 The MMP-3 5A allele is associated with the occurrence of CA. Our results suggest that an increased proteolysis in the arterial wall may act as a susceptibility factor for the development of CA in patients with coronary atherosclerosis.	Case:113 patients with CAD with at least one coronary:aneurism;Control:226 patients with CAD without coronary aneurism										
130708		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	16	16q13-q21	MMP2	54070588	54098104		Eriksson, P.  et al. 2005	16082623				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			The British journal of surgery. 2005 Nov;92(11):1372-6	Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.		120360	22886	2	2005	 There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect.											
130709		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	16	16q13-q21	MMP2	54070588	54098104			16356191				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		120360	25239	2	2005												
130704	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Holla, L. I.  et al. 2005	16018746			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Journal of periodontology. 2005 Jul;76(7):1056-60	Genetic variations in the human gelatinase A (matrix metalloproteinase-2) promoter are not associated with susceptibility to, and severity of, chronic periodontitis.		120360	18316	2	2005	 Our findings suggest that polymorphisms in the MMP-2 gene promoter do not contribute significantly to the interindividual periodontitis susceptibility and/or severity in European Caucasians, and they are not regulatory variants in this disease.											
130705		psoriasis	IMMUNE	IMM	Psoriasis|Neovascularization, Pathologic	16	16q13-q21	MMP2	54070588	54098104		Vasku, V. = V et al. 2002	12077518				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Dermatology (Basel, Switzerland). 2002 ;204(4):262-5	Genotype association of C(-735)T polymorphism in matrix metalloproteinase 2 gene with G(8002)A endothelin 1 gene with plaque psoriasis.		120360	22883	2	2002	 The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.	Case:119 patients with plaque psoriasis, aged 44 15 years;Control:119 healthy subjects without any individual history of psoriasis, aged 37 15 years										
130706		liver disease, chronic	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	16	16q13-q21	MMP2	54070588	54098104		Okamoto, K.  et al. 2005	15955221				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Journal of gastroenterology and hepatology. 2005 Jul;20(7):1102-8	Association of functional gene polymorphisms of matrix metalloproteinase (MMP)-1, MMP-3 and MMP-9 with the progression of chronic liver disease.		120360	22884	2	2005	 These findings suggest that MMP-1, MMP-3, and MMP-9 gene polymorphisms account for some of the variability in the progression of HCV-related chronic liver diseases.											
130701	Y	oral cancer; oral submucous fibrosis	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Oral Submucous Fibrosis	16	16q13-q21	MMP2	54070588	54098104		Lin, S. C.  et al. 2004	15250832			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Journal of oral pathology & medicine. 2004 Aug;33(7):405-9	Functional genotype in matrix metalloproteinases-2 promoter is a risk factor for oral carcinogenesis.		120360	18313	2	2004	 This is the first paper demonstrating that functional genotype of MMP-2 promoter is a risk factor for oral carcinogenesis, particularly for the subsets occurring on non-buccal site.	Case:121/58 oral squamous cell carcinoma (n=121) and oral submucous fibrosis (n=58) cases;Control:147:controls										
130702	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	16	16q13-q21	MMP2	54070588	54098104		Yu, C.  et al. 2004	15492291			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Cancer research. 2004 Oct;64(20):7622-8	Functional haplotypes in the promoter of matrix metalloproteinase-2 predict risk of the occurrence and metastasis of esophageal cancer.		120360	18314	2	2004	These findings suggest that the C(-1306)-C(-735) haplotype in the MMP-2 promoter contributes to risk of the occurrence and metastasis of esophageal squamous cell carcinoma by increasing expression of MMP-2.	Case:527 esophageal cancer cases;Control:777:controls										
130703		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Zhou, Y.  et al. 2005	15731163			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Carcinogenesis. 2005 Jun;26(6):1117-21	Functional haplotypes in the promoter of matrix metalloproteinase-2 and lung cancer susceptibility.		120360	18315	2	2005	These results are consistent with our previous findings and further support the hypothesis that gain-of-function of MMP2 resulting from genetic polymorphisms plays an important role in human carcinogenesis.	Case:770 lung cancer cases;Control:777:controls	smoking (tobacco)									
130698	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Zhou, Y.  et al. 2004	14604886			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Carcinogenesis. 2004 Mar;25(3):399-404	Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes		120360	14261	2	2004	These findings suggest that the presence of the variant allele in the promoter of MMP2 or TIMP2 may be a protective factor for the development of breast cancer.	Case:462 breast cancer patients;Control:509 frequency matched control women		MMP2	-1306CT or TT	TIMP2	-418GC or CC			Y		Protective factor for the development of breast cancer
130699		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	16	16q13-q21	MMP2	54070588	54098104		O-Charoenrat, P.  et al. 2005	16275157			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Oral oncology. 2005	The role of genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes in head and neck cancer.		120360	14265	2	2005												
130700	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis	16	16q13-q21	MMP2	54070588	54098104		Yao, J. Y.  et al. 2003	12939660				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			European journal of human genetics. 2003 Sep;11(9):714-7	Mutation analysis of the Smad3 gene in human osteoarthritis		120360	18312	2	2003	The expressions of matrix metalloproteinase 2 (MMP-2) and MMP-9 in sera of the patient carrying the mutation were higher than other OA patients and controls. This is the first report showing that the Smad3 gene mutations could be associated with the pathogenesis of human OA.	Case:32 patients with knee osteoarthritis;Control:50 patients with only bone fracture										
130695	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	16	16q13-q21	MMP2	54070588	54098104		Xu, E.  et al. 2004	15485653			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Chinese	China	CDC GDPinfo	4313	Hs.513617			Biochemical and biophysical research communications. 2004 Nov;324(3):999-1003	A single nucleotide polymorphism in the matrix metalloproteinase-2 promoter is associated with colorectal cancer.		120360	12443	2	2004	Our data suggest that MMP-2 -1306 C-->T polymorphism may be associated with colorectal cancer development and invasion in the Chinese population.	Control:126 age- and sex-matched controls;Case:126 colorectal cancer patients:China										
130696	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Zhang, X. M.  et al. 2004	15522165				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Chinese		CDC GDPinfo	4313	Hs.513617			Ai zheng. 2004 Nov;23(11):1233-7	[Association of functional polymorphisms in matrix metalloproteinase-2 (MMP-2) and MMP-9 genes with risk of gastric cancer in a Chinese population.]		120360	12484	2	2004	 MMP-2 -1306T/C and MMP-9 -1562C/T polymorphisms may be associated with genetic susceptibility to gastric cancer.	Case:228 patients with gastric cancer;Control:774 matched healthy controls										
130697	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	16	16q13-q21	MMP2	54070588	54098104		Grieu, F.  et al. 2004	15609121				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Breast cancer research and treatment. 2004 Dec;88(3):197-204	Genetic polymorphisms in the MMP-2 and MMP-9 genes and breast cancer phenotype		120360	12486	2	2004	These findings suggest that breast cancer phenotype and outcome can be influenced by common functional polymorphisms in MMP genes.	Cohort 78 breast cancer patients 										
130692	Y	gastric cardia adenocarcinoma	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Miao, X.  et al. 2003	12873995			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Cancer research. 2003 Jul;63(14):3987-90	A functional polymorphism in the matrix metalloproteinase-2 gene promoter (-1306C/T) is associated with risk of development but not metastasis of gastric cardia adenocarcinoma.		120360	12440	2	2003	These findings are consistent with our initial observation for lung cancer and further support the hypothesis that MMP2 genotype may influence individual susceptibility to the development of certain cancer.	Case:356 patients with gastric cardia adenocarcinoma										
130693	Y	heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low|Chronic Disease	16	16q13-q21	MMP2	54070588	54098104		Vasku, A.  et al. 2003	14580155	(-790T/G and -735C/T)		promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Clinical chemistry and laboratory medicine. 2003 Oct;41(10):1299-303	Two MMP-2 promoter polymorphisms (-790T/G and -735C/T) in chronic heart failure.		120360	12441	2	2003	Determination of MMP polymorphisms in the regulatory area of the gene could help us to comprehend individual susceptibility of patients with CHF to MMP inhibitors based on known risks of MMP genotypes.	Case:164 patients with chronic heart failure;Control:196 controls without clinical signs of cardiovascular:disease										
130694	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	16	16q13-q21	MMP2	54070588	54098104		Vasku, A.  et al. 2004	14996438			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDPinfo	4313	Hs.513617			Matrix biology. 2004 Jan;22(7):585-91	A haplotype constituted of four MMP-2 promoter polymorphisms (-1575G/A, -1306C/T, -790T/G and -735C/T) is associated with coronary triple-vessel disease.		120360	12442	2	2004	The analysis of promoter MMP-2 gene variability could help us to understand individual susceptibility to MMP inhibitor treatment of the coronary artery disease.	Case:187 patients with coronary triple-vessel disease;Control:196 controls without clinical signs of coronary heart:disease										
130689	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Zhou Y 2004	14604886			5' promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			KGB	4313	Hs.513617			Carcinogenesis. 2004 Mar;25(3):399-404	Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and t inhibitor of metalloproteinase-2 genes.		120360	4549	1	2004	These findings suggest that the presence of the variant allele in the promoter of MMP2 or TIMP2 may be a protective factor for the development of breast cancer.	Case:462 breast cancer patients;Control:509 frequency matched control women		MMP2	-1306CT or TT	TIMP2	-418GC or CC			Y		Protective factor for the development of breast cancer
130690	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Yu, C.  et al. 2002	12438229			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2		China	CDC GDPinfo	4313	Hs.513617			Cancer research. 2002 Nov;62(22):6430-3	Correlation between a single nucleotide polymorphism in the matrix metalloproteinase-2 promoter and risk of lung cancer		120360	12438	2	2002	These results demonstrate a significant association between the MMP2 -1306C/T polymorphism and risk of developing lung cancer solely or in a manner of interaction with carcinogen exposure.	Case:781 Chinese lung cancer cases;Control:852 age- and sex-matched controls	smoking (tobacco)									
130691	Y	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Breast Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Harendza, S.  et al. 2003	12657623			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Caucasian		CDC GDPinfo	4313	Hs.513617			The Journal of biological chemistry. 2003 Jun;278(23):20490-9	Linked common polymorphisms in the gelatinase a promoter are associated with diminished transcriptional response to estrogen and genetic fitness.		120360	12439	2	2003	The frequency of the 1575 G to A transition deviated significantly from the expected Hardy-Weinberg distribution in two independently assembled study populations consisting of healthy adult blood donors and newborns of Caucasian origin, both with a calculated 21% reduction in genetic fitness.	Cohort healthy adult blood donors and newborns of Caucasian origin 										
130686		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22.3	MMP13	102318933	102331672		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDPinfo	4322	Hs.2936			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		600108	27551	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130687	Y	psoriasis	IMMUNE	IMM	Psoriasis|Neovascularization, Pathologic	16	16q13-q21	MMP2	54070588	54098104		Vasku V et al. 2002	12077518				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			KGB	4313	Hs.513617			Dermatology (Basel, Switzerland). 2002 ;204(4):262-5	Genotype association of C(-735)T polymorphism in matrix metalloproteinase 2 gene with G(8002)A endothelin 1 gene with plaque psoriasis.		120360	4547	1	2002	 The results seem to reflect a different susceptibility of MMP-2 as well as of some associated MMP-2 and ET-1 genotypes to psoriasis.	Case:119 patients with plaque psoriasis, aged 44 15 years;Control:119 healthy subjects without any individual history of psoriasis, aged 37 15 years										
130683	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	11	11q22.3	MMP13	102318933	102331672		Yoon S et al. 2002	12392760			promoter	Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			KGB	4322	Hs.2936			Matrix biology. 2002 Oct;21(6):487-98	MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males.		600108	4565	1	2002	The genotype for one of the MMP13 polymorphisms was associated with fibrous plaque (P=0.024) in black males. Immunohistochemistry using antibodies for MMP13 showed that MMP13 is expressed in all layers of the aorta. In-vitro transfection experiments with reporter gene constructs and electrophoretic mobility-shift assays showed that the MMP13 polymorphism was a functional variant. MMP13 is therefore, a genetic risk factor for extent of fibrous plaque in the abdominal aorta in young black males. Elucidation of the currently unknown mechanism of the MMP13 polymorphism's action may provide for pharmacological intervention to reduce the severity of atherosclerotic changes in susceptible individuals.	Cohort 995 samples from the Pathobiological Determinants of Atherosclerosis in Youth collection										
130684	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	11	11q22.3	MMP13	102318933	102331672		Yoon, S.  et al. 2002	12392760			promoter	Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDPinfo	4322	Hs.2936			Matrix biology. 2002 Oct;21(6):487-98	MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males		600108	12436	2	2002	The genotype for one of the MMP13 polymorphisms was associated with fibrous plaque (P=0.024) in black males. Immunohistochemistry using antibodies for MMP13 showed that MMP13 is expressed in all layers of the aorta. In-vitro transfection experiments with reporter gene constructs and electrophoretic mobility-shift assays showed that the MMP13 polymorphism was a functional variant. MMP13 is therefore, a genetic risk factor for extent of fibrous plaque in the abdominal aorta in young black males. Elucidation of the currently unknown mechanism of the MMP13 polymorphism's action may provide for pharmacological intervention to reduce the severity of atherosclerotic changes in susceptible individuals.	Cohort 995 samples from the Pathobiological Determinants of Atherosclerosis in Youth collection 										
130685		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP13	102318933	102331672			16356191				Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDPinfo	4322	Hs.2936			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		600108	22882	2	2005												
130680	N	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	11	11q22.3	MMP12	102238673	102250922		Zhang, B.  et al. 2001	11546917				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2		England	CDC GDPinfo	4321	Hs.1695			Stroke; a journal of cerebral circulation. 2001 Sep;32(9):2198-202	Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage.		601046	22880	2	2001	 The data do not support the hypothesis that MMP gene variations influence the development of intracranial aneurysms in the population studied.	Control:158 healthy control subjects;Case:92 patients with aneurysmal subarachnoid hemorrhage southern England										
130682		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22.3	MMP12	102238673	102250922		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDPinfo	4321	Hs.1695			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		601046	27094	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130676		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Aneurysm|Coronary Artery Disease	11	11q22.3	MMP12	102238673	102250922		Lamblin, N.  et al. 2002	12103254			promoter	Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDPinfo	4321	Hs.1695			Journal of the American College of Cardiology. 2002 Jul;40(1):43-8	Polymorphisms in the promoter regions of MMP-2, MMP-3, MMP-9 and MMP-12 genes as determinants of aneurysmal coronary artery disease.		601046	12434	2	2002	 The MMP-3 5A allele is associated with the occurrence of CA. Our results suggest that an increased proteolysis in the arterial wall may act as a susceptibility factor for the development of CA in patients with coronary atherosclerosis.	Case:113 patients with CAD with at least one coronary:aneurism;Control:226 patients with CAD without coronary aneurism										
130677		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP12	102238673	102250922		Shin, A.  et al. 2005	15987457				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2		China	CDC GDPinfo	4321	Hs.1695			Breast cancer research. 2005 ;7(4):R506-12	Genetic polymorphisms in the matrix metalloproteinase 12 gene (MMP12) and breast cancer risk and survival: the Shanghai Breast CancerStudy.		601046	12435	2	2005	 This result suggests that MMP12 A1082G polymorphism may be related to prognosis in breast cancer patients. Additional studies with larger sample sizes are warranted.											
130679		lung cancer	CANCER	CAN	Lung Neoplasms	11	11q22.3	MMP12	102238673	102250922			16311244				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDPinfo	4321	Hs.1695			Carcinogenesis. 2005	Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer		601046	22879	2	2005			smoking (tobacco)									
130672		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	11	11q22.3	MMP1	102165860	102174104		Kornman, K. S.  et al. 2001	11887471				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		120353	28300	2	2001	Review Article											
130673		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Barton, A.  et al. 2002	11981324				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		120353	28549	2	2002	Review article											
130675	Y	coronary artery luminal dimensions	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies	11	11q22.3	MMP12	102238673	102250922		Jormsjo S et al. 2000	10807873				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			KGB	4321	Hs.1695			Circulation research. 2000 May;86(9):998-1003	Allele-specific regulation of matrix metalloproteinase-12 gene activity is associated with coronary artery luminal dimensions in diabetic patients with manifest coronary artery disease.		601046	4564	1	2000												
130669	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Dorr, S.  et al. 2004	15142265				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Arthritis research & therapy. 2004 ;6(3):R199-207	Association of a specific haplotype across the genes MMP1 and MMP3 with radiographic joint destruction in rheumatoid arthritis.		120353	22877	2	2004	Our findings suggest that there are haplotypes in a MMP cluster region that modify the joint destruction in RA in a phasic manner.	Control:110:controls;Case:308 rheumatoid arthritis patients										
130670		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Nohara, H.  et al. 2002	12572877				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Japanese	Japan	CDC GDPinfo	4312	Hs.83169			Journal of gastroenterology. 2002 Nov;37 Suppl 14:107-10	Polymorphisms of the IL-1beta and IL-1beta-inducible genes in ulcerative colitis.		120353	22878	2	2002	 No association of the IL-1beta and three IL-1beta-inducible gene polymorphisms with UC was observed in a Japanese population.	Control:106 ethnically matched controls;Case:96 Japanese patients with ulcerative colitis										
130671		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		120353	25238	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130666		lung cancer	CANCER	CAN	Lung Neoplasms	11	11q22.3	MMP1	102165860	102174104			16311244				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Carcinogenesis. 2005	Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer		120353	18311	2	2005			smoking (tobacco)									
130667		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Saarela, M. S.  et al. 2004	15337261				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Finland	CDC GDPinfo	4312	Hs.83169			Neuroscience letters. 2004 Sep;367(3):336-9	Interaction between matrix metalloproteinase 3 and the 4 allele of apolipoprotein E increases the risk of Alzheimer's disease in Finns		120353	22875	2	2004	In conclusion, our finding suggests that the MMP3 gene, especially together with APOE 4, may contribute to the development of AD.	Control:101 control patients;Case:97/52 Alzheimer's diease (n=97) and Parkinson's disease:(n=62) patients										
130668	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Constantin, A.  et al. 2002	11824952				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			The Journal of rheumatology. 2002 Jan;29(1):15-20	Collagenase-1 (MMP-1) and HLA-DRB1 gene polymorphisms in rheumatoid arthritis: aprospective longitudinal study.		120353	22876	2	2002	 Our results do not support the hypothesis of an association between this particular polymorphism in the MMP-1 gene promoter and susceptibility to, or severity of, RA. This study confirms the previous reports of an association between the HLA-DRB1 gene polymorphism and severity of RA.	Case:103 patients with early rheumatoid arthritis;Control:133 healthy individuals										
130662		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Izakovicova Holla, L.  et al. 2004	15257748			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Czech	Czech Republic	CDC GDPinfo	4312	Hs.83169			Journal of clinical periodontology. 2004 Aug;31(8):685-90	Genetic variations in the matrix metalloproteinase-1 promoter and risk of susceptibility and/or severity of chronic periodontitis in the Czech population.		120353	18307	2	2004	 Our results demonstrate that the polymorphisms in the MMP-1 promoter may have only a small effect on the etiopathogenesis of chronic periodontitis.	Case:133 patients with mild to severe chronic periodontitis;Control:196 unrelated control subjects										
130663		lung cancer; asthma; emphysema; bronchitis; pneumonia; hay fever	CANCER	CAN	Lung Neoplasms|Asthma|Bronchitis|Pulmonary Emphysema|Pneumonia|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Schabath, M. B.  et al. 2005	15718477				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Texas	CDC GDPinfo	4312	Hs.83169			American journal of epidemiology. 2005 Mar;161(5):412-22	Opposing effects of emphysema, hay fever, and select genetic variants on lung cancer risk.		120353	18308	2	2005	The biologic role of respiratory disease in lung cancer is unclear. Further study may yield new insights for identification of susceptible subgroups.	Control:1,375:controls;Case:1,553 lung cancer patients:1995 - 2003										
130665		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Pearce, E.  et al. 2005	16210545				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Circulation research. 2005 Nov;97(10):1070-6	Haplotype effect of the matrix metalloproteinase-1 gene on risk of myocardial infarction.		120353	18310	2	2005												
130659	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	11	11q22.3	MMP1	102165860	102174104		Ye, S.  et al. 2003	14499230				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			European heart journal. 2003 Sep;24(18):1668-71	Variation in the matrix metalloproteinase-1 gene and risk of coronary heart disease.		120353	18303	2	2003	 Sequence variants at the MMP-1 genomic locus may influence risk of coronary heart disease in humans.	Cohort 471 Caucasian men and women, aged 66-75 years Sheffield, UK 										
130660		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Nojiri, T.  et al. 2003	14659851			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Japanese	Japan	CDC GDPinfo	4312	Hs.83169			International journal of cardiology. 2003 Dec;92(3-Feb):181-6	Genetic variations of matrix metalloproteinase-1 and -3 promoter regions and their associations with susceptibility to myocardial infarction in Japanese.		120353	18304	2	2003	Taken together, the present findings suggest that genetic variations in these MMP genes and especially their haplotype may be useful genetic markers for determining susceptibility to MI in Japanese.	Case:164/302 Japanese myocardial infarct patients (group 1, n=164 and group 2, n=302);Control:335 patients without cardiovascular disease										
130661	Y	oral cancer; oral submucous fibrosis	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Oral Submucous Fibrosis	11	11q22.3	MMP1	102165860	102174104		Lin, S. C.  et al. 2004	15200479			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of oral pathology & medicine. 2004 Jul;33(6):323-6	Correlation between functional genotypes in the matrix metalloproteinases-1 promoter and risk of oral squamous cell carcinomas.		120353	18306	2	2004	 The results showed that 2G genotype in MMP-1 promoter was associated with the risk of OSCC.	Case:121/58 cases with oral squamous cell carcinoma (n = 121)and with oral submucous fibrosis (n = 58);Control:147:controls										
130656		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP1	102165860	102174104			16356191				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Arthritis research & therapy. 2005 Nov;8(1):R1	Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study		120353	13149	2	2005												
130657	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	11	11q22.3	MMP1	102165860	102174104			15612581				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Molekuliarnaia biologiia. 2004 Nov-Dec;38(6):973-9	[Complex search for antiprotease-protease enzyme gene polymorphisms in patients with chronic obstructive pulmonary diseases]		120353	13610	2	2004	These findings suggest that genetic polymorphism in the promoter of MMPI gene may be associated with individual susceptibility to the development of COPD.	Control:controls;Case:239/34/33/151/57 patients with COPD (n = 239), nonobstructive chronic bronchitis (n = 34), brochiectases (n = 33), chronic infant lung disease (n = 151) and cystic fibrosis (n = 57)										
130658	N	celiac disease	IMMUNE	IMM	Celiac Disease	11	11q22.3	MMP1	102165860	102174104		Louka, A. S.  et al. 2002	12229968				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Swedish	Norway|Sweden	CDC GDPinfo	4312	Hs.83169			Scandinavian journal of gastroenterology. 2002 Aug;37(8):931-5	Coeliac disease candidate genes: no associationwith functional polymorphisms in matrix metalloproteinase 1 and 3 gene promoters.		120353	18302	2	2002	 We did not find significant evidence to support an association of MMP-3 allele 5A or MMP-1 allele 2G with coeliac disease in Norwegian and Swedish populations.	Control:160 independent healthy controls from the Norwegian Bone Marrow Donor Registry;Case:225/102 combined (Norwegian and Swedish) simplex families										
130653		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Li, Y.  et al. 2005	16278009			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Chinese		CDC GDPinfo	4312	Hs.83169			Gynecologic oncology. 2005	Polymorphisms in the promoter regions of the matrix metalloproteinases-1, -3, -7, and -9 and the risk of epithelial ovarian cancer in China.		120353	12431	2	2005	 The study suggested that a possible association between the MMP-7 A/G polymorphism with susceptibility to epithelium ovarian cancer, but there is no support for an association of the selected MMP-1 1G/2G, MMP-3 5A/6A, and MMP-9 C/T polymorphisms with the risk for ovarian cancer.											
130654		periodontitis	IMMUNE	IMM	Periodontitis	11	11q22.3	MMP1	102165860	102174104		Cao, Z.  et al. 2005	16302919			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Chinese	China	CDC GDPinfo	4312	Hs.83169			Journal of periodontal research. 2005 Dec;40(6):427-31	Association of matrix metalloproteinase-1 promoter polymorphism with generalized aggressive periodontitis in a Chinese population.		120353	12432	2	2005	 The present study suggests that a single nucleotide polymorphism in the MMP-1 promoter region of -1607 bp may be associated with generalized aggressive periodontitis in Chinese population.											
130655	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104			16353148			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			International journal of cancer Journal international du cancer. 2005	A functional polymorphism in the matrix metalloproteinase-1 gene promoter is associated with susceptibility and aggressiveness of head and neck cancer		120353	12433	2	2005												
130649	Y	endometriosis; adenomyosis	REPRODUCTION	REP		11	11q22.3	MMP1	102165860	102174104		Kang, S.  et al. 2005	16202315			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Zhonghua fu chan ke za zhi. 2005 Sep;40(9):601-4	[Single nucleotide polymorphism in the matrix metalloproteinases promoter is associated with susceptibility to endometriosis and adenomyosis.]		120353	12427	2	2005	 Individuals with the MMP-1 2G alleletype have significantly increased risk of developing EM and adenomyosis; MMP-3 promoter SNP is not associated with susceptibility to EM and adenomyosis, 2G/6A haplotype could be used as a stratified marker for EM.											
130650	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22.3	MMP1	102165860	102174104		Six, L.  et al. 2005	16214204			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Gynecologic oncology. 2005	A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the prognosis of patients with ovarian cancer.		120353	12428	2	2005	 Presence of the MMP1 gene promoter polymorphisms was found to be a negative prognostic parameter in patients with ovarian cancer.											
130651		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Cao, Z. G.  et al. 2005	16256416			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Chinese		CDC GDPinfo	4312	Hs.83169			Oral oncology. 2006 Jan;42(1):32-8	A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances oral squamous cell carcinoma susceptibility in a Chinese population.		120353	12429	2	2005			smoking (tobacco)									
130644	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	11	11q22.3	MMP1	102165860	102174104		Walch, K.  et al. 2005	15866608			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Caucasian		CDC GDPinfo	4312	Hs.83169			Fertility and sterility. 2005 May;83(5):1565-7	A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women		120353	12422	2	2005	In this prospective case-control study, the odds for women with at least one mutant GG allele of the MMP1 promoter to be diagnosed with PCOS was 2.7.	Control:controls;Case women with polycystic ovary syndrome										
130645		oral cancer; oral submucous fibrosis	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Xu, E.  et al. 2005	15939478	promoter 1G/2G		promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of biochemical and biophysical methods. 2005 Jun;63(3):222-7	DHPLC analysis of the matrix metalloproteinase-1 promoter 1G/2G polymorphism that can be easily used to screen large population.		120353	12423	2	2005												
130647	Y	brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms	11	11q22.3	MMP1	102165860	102174104		McCready, J.  et al. 2005	15957163			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			International journal of cancer. Journal international du cancer. 2005 Dec;117(5):781-5	Association of a single nucleotide polymorphism in the matrix metalloproteinase-1 promoter with glioblastoma.		120353	12425	2	2005												
130641		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis	11	11q22.3	MMP1	102165860	102174104		Zinzindohoue, F.  et al. 2005	15701845			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Clinical cancer research. 2005 Jan;11(2 Pt 1):594-9	Prognostic significance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer.		120353	12419	2	2005	 In the subgroups of nondistant metatastic patients (stages I and II, and stages I-III), an inverse relation between the number of MMP-1-1607insG allele and survival was observed suggesting a gene dosage effect. Our results are consistent with the importance of MMP-1-1607ins/delG functional polymorphism in regulating transcription level and with the relationship between MMP-1 expression and cancer invasion, metastasis, and prognosis.	Cohort 201 colorectal cancer patients 										
130642	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11q22.3	MMP1	102165860	102174104		Su, L.  et al. 2005	15767330			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):567-70	Matrix metalloproteinase-1 promoter polymorphism and lung cancer risk.		120353	12420	2	2005	In conclusion, genotypes containing the 2G allele of the MMP-1 polymorphism are associated with higher risk of lung cancer in never-smokers and in males.	Control:1,363 healthy controls;Case:1,752 Caucasian lung cancer patients	smoking (tobacco)									
130643	N	esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Jin, X.  et al. 2005	15832405			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Chinese	China	CDC GDPinfo	4312	Hs.83169			World journal of gastroenterology. 2005 Apr;11(16):2385-9	No association of the matrix metalloproteinase 1 promoter polymorphism with susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in northern China.		120353	12421	2	2005	 The 2G or 1G SNP in the MMP1 promoter might not modify the risk of ESCC and GCA development and might not be used as a stratification marker to predict the potential of lymphatic metastasis in these two tumor types.	Control:350 healthy controls;Case:417 cancer patients (234 esophageal squam-ous cell carcinoma and 183 gastric cardiac adenocarcinoma)										
130638	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Fang, S.  et al. 2004	15528217			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		China	CDC GDPinfo	4312	Hs.83169			Carcinogenesis. 2005 Feb;26(2):481-6	Polymorphisms in the MMP1 and MMP3 promoter and non-small cell lung carcinoma in North China.		120353	12416	2	2004	The present result suggested that the MMP3 promoter polymorphism may modify susceptibility to NSCLC, and the MMP 1G/5A haplotype may predicate the risk of lymphatic metastasis of this tumor.	Case:243 non-small cell lung carcinoma cases North China;Control:350:controls	smoking (tobacco)									
130639	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Ju, W.  et al. 2005	15617836			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Korean	Korea	CDC GDPinfo	4312	Hs.83169			Cancer letters. 2005 Jan;217(2):191-6	Promoter polymorphism in the matrix metalloproteinase-1 and risk of cervical cancer in Korean women		120353	12417	2	2005	In conclusion, this study shows that Korean with specific polymorphism in MMP-1 are neither more susceptible to develop cervical cancer nor more vulnerable for cancer progression.	Case:232 cervical cancer patients:Korea;Control:332 non-cancer control subjects										
130640	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Lai, H. C.  et al. 2005	15661214				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Gynecologic oncology. 2005 Feb;96(2):314-9	Matrix metalloproteinase 1 gene polymorphism as a prognostic predictor of invasive cervical cancer.		120353	12418	2	2005	 The genetic polymorphisms of MMP-1 are not associated with the risk of HSIL and SCC, but with the invasiveness and prognosis of SCC. The heterozygous genotype of MMP-1 can be used as a prognostic marker in patients with invasive cervical cancer.	Control age-matched controls;Case cervical cancer patients	human papillomavirus									
130635	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Itagaki, M.  et al. 2004	15312099			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Japanese	Japan	CDC GDPinfo	4312	Hs.83169			Journal of clinical periodontology. 2004 Sep;31(9):764-9	Matrix metalloproteinase-1 and -3 gene promoter polymorphisms in Japanese patients with periodontitis.		120353	12412	2	2004	 Our data did not support the hypothesis that MMP-1 and/or MMP-3 gene promoter polymorphisms influenced the susceptibility to periodontitis in Japanese patients, indicating MMP-1 and MMP-3 expressions were regulated by complex processes such as cytokine network in periodontal disease rather than gene polymorphisms.	Control:142 healthy Japanese subjects;Case:37/205 Japanese non-smoking generalised aggressive (n=37) and slight-to-severe generalised:chronic-periodontitis (n=205) patients										
130636	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Hirata, H.  et al. 2004	15319295				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Japan	CDC GDPinfo	4312	Hs.83169			Carcinogenesis. 2004 Dec;25(12):2379-84	Association of a haplotype of matrix metalloproteinase (MMP)-1 and MMP-3 polymorphisms with renal cell carcinoma.		120353	12413	2	2004	These findings suggest that this haplotype of MMP-1 and MMP-3 variants may be associated with the risk of developing RCC.	Case:156 renal cell carcinoma cases;Control:230 age- and gender-matched controls										
130637		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q22.3	MMP1	102165860	102174104		Martin, T. N.  et al. 2004	15476622			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			The American journal of cardiology. 2004 Oct;94(8):1044-6	Matrix metalloproteinase-1 promoter polymorphisms and changes in left ventricular volume following acute myocardial infarction.		120353	12415	2	2004	Patients possessing 2 GG alleles were at increased risk for remodeling compared with homozygotes for the G allele and heterozygotes possessing 1 G and 1 GG allele.	Cohort 42 patients after their first acute myocardial infarction 										
130632	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	11	11q22.3	MMP1	102165860	102174104		Hashimoto, T.  et al. 2004	15194213			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Cancer letters. 2004 Jul;211(1):19-24	Association of matrix metalloproteinase (MMP)-1 promoter polymorphism with head and neck squamous cell carcinoma.		120353	12409	2	2004	These data suggest that the MMP-1 promoter polymorphism may be associated with HNSCC.	Case head and neck squamous cell carcinoma patients;Control healthy age- and sex-matched controls										
130633	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Zinzindohoue, F.  et al. 2004	15274394			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Anticancer research. 2004 May-Jun;24(3b):2021-6	Single nucleotide polymorphisms in MMP1 and MMP3 gene promoters as risk factor in head and neck squamous cell carcinoma.		120353	12410	2	2004	The haplotype analysis suggested an implication of both MMP1 and MMP3 polymorphisms in the head and neck squamous cell carcinoma susceptibility. Indeed, the presence of the MMP1-2G and MMP3-6A alleles seemed to be associated with decreased risk of head and neck squamous cell carcinoma but mainly when they were carried by the same haplotype. By comparison to the 1G-5A haplotype, the 2G-6A haplotype was associated with a lower risk of head and neck squamous cell carcinoma (OR=0.52 95%CI [0.34-0.80], p=0.003).	Case:126 male head and neck cancer patients;Control:249 male hospitalized-based controls										
130634	Y	ulcerative colitis; cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Wiencke, K.  et al. 2004	15288468			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Norway	CDC GDPinfo	4312	Hs.83169			Journal of hepatology. 2004 Aug;41(2):209-14	Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients.		120353	12411	2	2004	 We found no general associations of the MMP-1 and MMP-3 genes to PSC or UC among Norwegian patients, but specific alleles were associated to subsets of PSC patients with UC and cholangiocarcinoma. The results support the theory of genetic heterogeneity among PSC patients.	Case:118 Norwegian ulcerative cholitis patients;Control:346 healthy controls										
130629		stomach cancer	CANCER	CAN	Stomach Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Matsumura, S.  et al. 2004	14986114			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of cancer research and clinical oncology. 2004 May;130(5):259-65	A single nucleotide polymorphism in the MMP-1 promoter is correlated with histological differentiation of gastric cancer		120353	12406	2	2004	 The presence of 2G allele in the MMP-1 promoter did not enhance the risk of gastric cancer; however, it may be involved in differentiation of gastric cancer.	Control:166:controls;Case:215 gastric cancer patients										
130630	N	sarcoidosis; tuberculosis	IMMUNE	IMM	Tuberculosis, Pulmonary|Eye Diseases|Sarcoidosis	11	11q22.3	MMP1	102165860	102174104		Ninomiya, S.  et al. 2004	15127970			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Sarcoidosis, vasculitis, and diffuse lung diseases. 2004 Mar;21(1):19-24	Matrix metalloproteinase-1 polymorphism of promoter region in sarcoidosis and tuberculosis patients.		120353	12407	2	2004	 Although MMP-1 polymorphism was not associated with onset risk of sarcoidosis and tuberculosis, the clinical characteristics of both diseases were affected by this polymorphism.	Case:103/105 sarcoidosis (n=103) and tuberculosis (n=105):patients;Control:106 healthy controls										
130631	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Disease Progression	11	11q22.3	MMP1	102165860	102174104		Przybylowska, K.  et al. 2004	15149160			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of experimental & clinical cancer research. 2004 Mar;23(1):121-5	An association between the matrix metalloproteinase 1 promoter gene polymorphism and lymphnode metastasis in breast cancer.		120353	12408	2	2004	Our results suggest that allele 2G may be associated with lymphnode metastasis in patients with breast cancer and therefore it can be considered as a prognostic marker in this disease.	Control halthy subjects;Case:135 subjects with breast cancer										
130626	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Hirata, H.  et al. 2003	12845675			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			International journal of cancer. Journal international du cancer. 2003 Sep;106(3):372-4	A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter is associated with conventional renal cell carcinoma.		120353	12403	2	2003	Our present data suggest that the MMP-1 promoter polymorphism may be linked to susceptibility for conventional RCC.	Case:119 patients with conventional renal cell carcinoma;Control:210 age- and sex-matched healthy volunteers										
130627	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Wenham, R. M.  et al. 2003	12969782			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of the Society for Gynecologic Investigation. 2003 Sep;10(6):381-7	Matrix metalloproteinase-1 gene promoter polymorphism and risk of ovarian cancer.		120353	12404	2	2003	 The reported association between the MMP1 promoter polymorphism and ovarian cancer risk was not supported by our data. There was a suggestion that the 2G allele may be associated with higher MMP1 expression, and this finding is worthy of further investigation.	Case:311 ovarian cancer cases;Control:387 age- and race-matched controls										
130628		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Lee, Y. H.  et al. 2003	14626631				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Scandinavian journal of rheumatology. 2003 ;32(4):235-9	Functional polymorphisms in matrix metalloproteinase-1 and monocyte chemoattractant protein-1 and rheumatoid arthritis		120353	12405	2	2003	Our data show that the functional promoter polymorphism in the MMP-1 promoter may not play an important role in the susceptibility of RA, but the polymorphism may be related to clinical phenotypes.	Case:117 rheumatoid arthritis patients;Control:97 healthy controls										
130623		breast cancer	CANCER	CAN	Adenocarcinoma|Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Ghilardi, G.  et al. 2002	12473595			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Clinical cancer research. 2002 Dec;8(12):3820-3	A single nucleotide polymorphism in the matrix metalloproteinase-3 promoter enhances breast cancer susceptibility.		120353	12400	2	2002	 Although this should be considered only as a pilot study, our results suggest that the presence of 5A polymorphism at the MMP-3 promoter region may represent an unfavorable prognostic feature in breast cancer patients associated with more invasive disease.	Control:110 Italian age-matched tumor-free women;Case:86 Italian women operated on for breast cancer and followed for 6-30 months (median follow-up, 21:months):Italy										
130624		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q22.3	MMP1	102165860	102174104		Schwarz, A.  et al. 2002	12515907	5A/6A		promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Disease markers. 2002 ;18(3):121-8	The stromelysin-1 5A/6A promoter polymorphism is a disease marker for the extent of coronary heart disease		120353	12401	2	2002	 The present results do not confirm an association of the 5A allele with the risk of MI, observed in another investigation, but strengthen the hypothesis of earlier studies that the 6A allele is a disease marker for progression of coronary heart disease. Further investigations should evaluate whether 6A allele carriers and especially 6A homozygotes might benefit from a more aggressive therapy against CHD progression.	Case:1848 participants who underwent coronary angiography for diagnostic purposes;Control:515 healthy controls										
130625	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	11	11q22.3	MMP1	102165860	102174104		De Souza, A. P.  et al. 2003	12622858			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Brazil	CDC GDPinfo	4312	Hs.83169			Journal of clinical periodontology. 2003 Feb;30(2):154-8	MMP-1 promoter polymorphism: association withchronic periodontitis severity in a Brazilian population.		120353	12402	2	2003	 These results show that a polymorphism in the promoter region of MMP-1 gene is associated with the severe chronic periodontitis phenotype in non-smokers.	Case moderate and severe periodontitis disease groups:Brazil;Control healthy controls										
130620	Y	bone density	METABOLIC	MET		11	11q22.3	MMP1	102165860	102174104		Yamada, Y.  et al. 2002	12225803				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Matrix biology. 2002 Aug;21(5):389-92	Association of a polymorphism of the matrix metalloproteinase-1 gene with bone mineral density.		120353	12397	2	2002	The MMP-1 gene may thus be a susceptibility locus for reduced BMD at the distal radius in postmenopausal women.	Cohort 2222 individuals from a population-based study (1095 women and 1127 men) 										
130621	Y	carotid artery stenosis	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP1	102165860	102174104		Ghilardi, G.  et al. 2002	12364729			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Stroke; a journal of cerebral circulation. 2002 Oct;33(10):2408-12	Matrix Metalloproteinase-1 and Matrix Metalloproteinase-3 Gene Promoter Polymorphisms Are Associated With Carotid Artery Stenosis		120353	12398	2	2002	 Homozygosity for the 6A allele of the MMP-3 promoter is associated with carotid stenosis and, in association with MMP-1 2G homozygosity, predicts an increased risk of ICA stenosis. Even if obtained from a relatively limited patient series, these results might have relevant implications for treatment of ICA stenosis and possibly prevention of carotid-related stroke.	Control:133 subjects without internal carotid artery stenosis;Case:91 patients consecutively recruited for internal carotid artery stenosis										
130622	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	11	11q22.3	MMP1	102165860	102174104		Hinoda, Y.  et al. 2002	12432557				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Japanese		CDC GDPinfo	4312	Hs.83169			International journal of cancer. Journal international du cancer. 2002 Dec;102(5):526-9	Association of functional polymorphisms of matrix metalloproteinase (MMP)-1 and MMP-3 genes with colorectal cancer		120353	12399	2	2002	Our present data suggest that the MMP-1 and MMP-3 promoter polymorphisms may be associated with a colorectal cancer susceptibility in Japanese.	Case:101 Japanese patients with colorectal cancer;Control:127 age- and gender-matched healthy volunteers		MMP-1	2G/2G	MMP-3 promoter	6A/6A			Y		colorectal cancer
130617	Y	preeclampsia; hypertension, pregnancy induced; eclampsia	OTHER	OTH	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Jurajda, M.  et al. 2001	11586041			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Czech	Czech Republic	CDC GDPinfo	4312	Hs.83169			Gynecologic and obstetric investigation. 2001 ;52(2):124-7	Lack of an association of a single nucleotide polymorphism in the promoter of the matrix metalloproteinase-1 gene in Czech women with pregnancy-induced hypertension.		120353	12393	2	2001	The insertion of the guanine in the promoter of the MMP1 gene does not appear to increase the risk of development of pregnancy-induced hypertension, preeclampsia and eclampsia.	Case not specified in abstract;Control not specified in abstract										
130618	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Zhu, Y.  et al. 2001	11691799			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Cancer research. 2001 Nov;61(21):7825-9	A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances lung cancer susceptibility		120353	12394	2	2001	Our data demonstrate that the 2G/2G genotype enhances lung cancer susceptibility especially in current smokers. To our knowledge, these results report the first molecular epidemiological evidence of the MMP-1 promoter polymorphism associated with the development of lung cancer in the presence of continuing carcinogenic exposure.	Control:451 frequency-matched controls of Caucasian ethnicity;Case:456 lung-cancer cases of Caucasian ethnicity	smoking (tobacco)									
130619	Y	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	11	11q22.3	MMP1	102165860	102174104		Joos, L.  et al. 2002	11875051				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Human molecular genetics. 2002 Mar;11(5):569-76	The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.		120353	12396	2	2002	These data suggest that polymorphisms in the MMP1 and MMP12 genes, but not MMP9, are either causative factors in smoking-related lung injury or are in linkage disequilibrium with causative polymorphisms.	Case:284 continuing smokers with fastest rate of decline of lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study;Control:306 continuing smokers with slowest rate of decline in lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study										
130614	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Invasiveness	11	11q22.3	MMP1	102165860	102174104		Ghilardi, G.  et al. 2001	11489811	G/2G		promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Clinical cancer research. 2001 Aug;7(8):2344-6	Matrix metalloproteinase-1 promoter polymorphism 1G/2G is correlated with colorectal cancer invasiveness.		120353	12390	2	2001	 Our results suggest that the presence of 2G polymorphism at the MMP-1 promoter region may favor the growth and the metastatic process in CRC patients and could be looked at as a risk factor for a worse prognosis.	Control:164 age- and sex-matched tumor-free subjects;Case:60 patients, who were operated on for CRC and followed										
130615	N	systemic sclerosis	UNKNOWN	UNK	Scleroderma, Systemic	11	11q22.3	MMP1	102165860	102174104		Johnson, R. W.  et al. 2001	11528521			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Genes and immunity. 2001 Aug;2(5):273-5	Lack of association of a functionally relevant single nucleotide polymorphism of matrix metalloproteinase-1 promoter with systemic sclerosis (scleroderma).		120353	12391	2	2001	The results show that the frequency of the high activity promoter genotype in either the heterozygous or homozygous state did not differ significantly between SSc patients and ethnically-matched controls, or between SSc patients with either diffuse or limited scleroderma. Furthermore, MMP-1 promoter genotypes did not significantly correlate with any of the major clinical manifestations of SSc.	Case systemic sclerosis patients with early disease from a multi-ethnic cohort;Control ethnically-matched normal controls										
130616	N	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	11	11q22.3	MMP1	102165860	102174104		Zhang, B.  et al. 2001	11546917				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		England	CDC GDPinfo	4312	Hs.83169			Stroke; a journal of cerebral circulation. 2001 Sep;32(9):2198-202	Polymorphisms in matrix metalloproteinase-1, -3, -9, and -12 genes in relation to subarachnoid hemorrhage.		120353	12392	2	2001	 The data do not support the hypothesis that MMP gene variations influence the development of intracranial aneurysms in the population studied.	Control:158 healthy control subjects;Case:92 patients with aneurysmal subarachnoid hemorrhage southern England										
130610	Y	conventional renal cell carcinoma	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Hirata H 2003	12845675			5'promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			International journal of cancer. Journal international du cancer. 2003 Sep;106(3):372-4	A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter is associated with conventional renal cell carcinoma.		120353	4543	1	2003	Our present data suggest that the MMP-1 promoter polymorphism may be linked to susceptibility for conventional RCC.	Case:119 patients with conventional renal cell carcinoma;Control:210 age- and sex-matched healthy volunteers										
130612	Y	osseointegrated implant failure	OTHER	OTH		11	11q22.3	MMP1	102165860	102174104	0.013	Santos MC 2004	14982353	-1607		5' promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			The International journal of oral & maxillofacial implants. 2004 Jan-Feb;19(1):38-43	Analysis of MMP-1 and MMP-9 promoter polymorphisms in early osseointegrated implant failure.		120353	4545	1	2004	 These results suggest that polymorphism in the promoter region of the MMP-1 gene may be associated with early implant failure, while polymorphism in the promoter region of the MMP-9 gene may not have a relationship with implant loss.											
130613	Y	Lung Cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Zhu Y 2001	11691799	2G/2G		5'promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2				4312	Hs.83169			Cancer research. 2001 Nov;61(21):7825-9	A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances lung cancer susceptibility		120353	4546	1	2001	Our data demonstrate that the 2G/2G genotype enhances lung cancer susceptibility especially in current smokers. To our knowledge, these results report the first molecular epidemiological evidence of the MMP-1 promoter polymorphism associated with the development of lung cancer in the presence of continuing carcinogenic exposure.	Control:451 frequency-matched controls of Caucasian ethnicity;Case:456 lung-cancer cases of Caucasian ethnicity	smoking (tobacco)									
130607	Y	bone mineral density	METABOLIC	MET		11	11q22.3	MMP1	102165860	102174104		Yamada Y et al. 2002	12225803				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			Matrix biology. 2002 Aug;21(5):389-92	Association of a polymorphism of the matrix metalloproteinase-1 gene with bone mineral density.		120353	4540	1	2002	The MMP-1 gene may thus be a susceptibility locus for reduced BMD at the distal radius in postmenopausal women.	Cohort 2222 individuals from a population-based study (1095 women and 1127 men)										
130608	Y	chronic periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	11	11q22.3	MMP1	102165860	102174104		de Souza AP et al. 2003	12622858			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Brazilian	Brazil	KGB	4312	Hs.83169			Journal of clinical periodontology. 2003 Feb;30(2):154-8	MMP-1 promoter polymorphism: association with chronic periodontitis severity in a Brazilian population.		120353	4541	1	2003	 These results show that a polymorphism in the promoter region of MMP-1 gene is associated with the severe chronic periodontitis phenotype in non-smokers.	Case moderate and severe periodontitis disease groups:Brazil;Control healthy controls										
130609	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	11	11q22.3	MMP1	102165860	102174104		Ye S 2003	14499230				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			European heart journal. 2003 Sep;24(18):1668-71	Variation in the matrix metalloproteinase-1 gene and risk of coronary heart disease.		120353	4542	1	2003	 Sequence variants at the MMP-1 genomic locus may influence risk of coronary heart disease in humans.	Cohort 471 Caucasian men and women, aged 66-75 years Sheffield, UK										
130604	N	Pregnancy- Induced Hypertension	OTHER	OTH	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104	n	Jurajda M 2001	11586041	Guanine in the promoter			Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Czech	Czech Republic	KGB	4312	Hs.83169			Gynecologic and obstetric investigation. 2001 ;52(2):124-7	Lack of an association of a single nucleotide polymorphism in the promoter of the matrix metalloproteinase-1 gene in Czech women with pregnancy-induced hypertension.		120353	4537	1	2001	The insertion of the guanine in the promoter of the MMP1 gene does not appear to increase the risk of development of pregnancy-induced hypertension, preeclampsia and eclampsia.	Case not specified in abstract;Control not specified in abstract										
130605	Y	cancer	CANCER	CAN	Neoplasms	11	11q22.3	MMP1	102165860	102174104		Dunleavey L et al. 2000	10842101				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			Matrix biology. 2000 May;19(2):175-7	Rapid genotype analysis of the matrix metalloproteinase-1 gene 1G/2G polymorphism that is associated with risk of cancer.		120353	4538	1	2000												
130606	Y	stroke	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q22.3	MMP1	102165860	102174104		Ghilardi G et al. 2002	12364729			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			Stroke; a journal of cerebral circulation. 2002 Oct;33(10):2408-12	Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis.		120353	4539	1	2002	 Homozygosity for the 6A allele of the MMP-3 promoter is associated with carotid stenosis and, in association with MMP-1 2G homozygosity, predicts an increased risk of ICA stenosis. Even if obtained from a relatively limited patient series, these results might have relevant implications for treatment of ICA stenosis and possibly prevention of carotid-related stroke.	Control:133 subjects without internal carotid artery stenosis;Case:91 patients consecutively recruited for internal carotid artery stenosis										
130601	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q25.1-q25.2	MME	156280129	156384212		Sakai, A.  et al. 2004	14739539				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			CDC GDPinfo	4311	Hs.307734			Dementia and geriatric cognitive disorders. 2004 ;17(3):164-9	Association of the NEPRILYSIN Gene with Susceptibility to Late-Onset Alzheimer's Disease		120520	18299	2	2004	Our findings suggest that the GT-repeat polymorphism in the promoter region of the NEP gene or some other unknown polymorphisms, which are in a linkage disequilibrium, confer a susceptibility to late-onset AD.	Control:163:controls;Case:240 Japanese Alzheimer's disease patients										
130602		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q25.1-q25.2	MME	156280129	156384212		Shi, J.  et al. 2005	15860464				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902	Chinese	China	CDC GDPinfo	4311	Hs.307734			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Mar;60(3):301-6	Mutation screening and association study of the neprilysin gene in sporadic Alzheimer's disease in Chinese persons.		120520	18300	2	2005	These findings indicate that genetic variations within or extremely close to NEP might influence the susceptibility to Alzheimer's disease in Chinese persons.	Control:242 cognitive normal controls;Case:257 Chinse sporadic Alzheimer's disease patients										
130603		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q25.1-q25.2	MME	156280129	156384212		Helisalmi, S.  et al. 2004	15548496				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902	Finnish	Finland	CDC GDPinfo	4311	Hs.307734			Journal of neurology, neurosurgery, and psychiatry. 2004 Dec;75(12):1746-8	Polymorphisms in neprilysin gene affect the risk of Alzheimer's disease in Finnish patients.		120520	22874	2	2004	 Taken together, these findings suggest that polymorphisms in the NEP gene increase risk for AD and support a potential role for NEP in AD.	Case:390 Alzheimer's disease patients;Control:468 cognitively healthy controls										
130598	Y	low amplitude P300 waves	OTHER	OTH	Substance-Related Disorders	3	3q25.1-q25.2	MME	156280129	156384212		Comings DE et al. 1999	10439449				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			KGB	4311	Hs.307734			Neuroreport. 1999 Aug;10(11):2283-5	Association of the enkephalinase gene with low amplitude P300 waves.		120520	4536	1	1999												
130599	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q25.1-q25.2	MME	156280129	156384212		Oda, M.  et al. 2002	11849775				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			CDC GDPinfo	4311	Hs.307734			Neuroscience letters. 2002 Mar;320(2-Jan):105-7	Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease.		120520	12387	2	2002	We conclude that  these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD.	Case:201 Japanese sporadic Alzheimer's disase patients;Control:208 Japanese controls										
130600	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q25.1-q25.2	MME	156280129	156384212		Lilius, L.  et al. 2003	12527400			promoter	Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902	Swedish	Sweden	CDC GDPinfo	4311	Hs.307734			Neuroscience letters. 2003 Feb;337(2):111-3	No association between polymorphisms in the neprilysin promoter region and Swedish Alzheimer's disease patients.		120520	12388	2	2003	No significant difference in the distribution of promoter polymorphisms between AD cases and controls were found in this study.	Control:109 non-demented controls;Case:164/152 early onset (n=164) and late-onset (n=152) Swedish Alzheimer's disease patients										
130595	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q25.1-q25.2	MME	156280129	156384212	n	Oda M et al. 2002	11849775				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			KGB	4311	Hs.307734			Neuroscience letters. 2002 Mar;320(2-Jan):105-7	Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease.		120520	4533	1	2002	We conclude that  these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD.	Case:201 Japanese sporadic Alzheimer's disase patients;Control:208 Japanese controls										
130596	Y	cerebral amyloid angiopathy.	OTHER	OTH	Cerebral Amyloid Angiopathy	3	3q25.1-q25.2	MME	156280129	156384212		Yamada M et al. 2003	12754344				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			KGB	4311	Hs.307734			Journal of neurology, neurosurgery, and psychiatry. 2003 Jun;74(6):749-51	Association of neprilysin polymorphism with cerebral amyloid angiopathy.		120520	4534	1	2003	 These results suggest the association between the NEP polymorphism and the risk of CAA. Further study using more samples from populations with different ethnic backgrounds is necessary.											
130597		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q25.1-q25.2	MME	156280129	156384212		Sakai A 2004	14739539				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902	Japanese		KGB	4311	Hs.307734			Dementia and geriatric cognitive disorders. 2004 ;17(3):164-9	Association of the Neprilysin gene with susceptibility to late-onset Alzheimer's disease.		120520	4535	1	2004	Our findings suggest that the GT-repeat polymorphism in the promoter region of the NEP gene or some other unknown polymorphisms, which are in a linkage disequilibrium, confer a susceptibility to late-onset AD.	Control:163:controls;Case:240 Japanese Alzheimer's disease patients										
130591		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	11	11q23	MLL	117812414	117902749		Zhu, Y. L.  et al. 2005	15968309				Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005933.2			CDC GDPinfo	4297	Hs.258855			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		159555	22873	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
130592		leukemia	CANCER	CAN	Leukemia, Promyelocytic, Acute	11	11q23	MLL	117812414	117902749		Kuchenbauer, F.  et al. 2005	16029447				Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005933.2			CDC GDPinfo	4297	Hs.258855			British journal of haematology. 2005 Jul;130(2):196-202	Impact of FLT3 mutations and promyelocytic leukaemia-breakpoint on clinical characteristics and prognosis in acute promyelocytic leukaemia.		159555	25237	2	2005												
130593		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	11	11q23	MLL	117812414	117902749		Schnittger, S.  et al. 2005	16076867				Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005933.2			CDC GDPinfo	4297	Hs.258855			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		159555	26413	2	2005												
130588		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	14	14q24.3	MLH3	74550219	74587988		Hienonen T 2003	12800209				MutL homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040108.1		Finland	KGB	27030	Hs.436650			International journal of cancer. Journal international du cancer. 2003 Aug;106(2):292-6	Little evidence for involvement of MLH3 in colorectal cancer predisposition.		604395	6744	1	2003												
130589	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	14	14q24.3	MLH3	74550219	74587988		De Jong, M. M.  et al. 2004	15193445				MutL homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040108.1			CDC GDPinfo	27030	Hs.436650			Cancer genetics and cytogenetics. 2004 Jul;152(1):70-1	No association between two MLH3 variants (S845G and P844L)and colorectal cancer risk.		604395	18296	2	2004	In conclusion, no association was observed between two MLH3 variants (P844L and S845G) and colorectal cancer risk.	Case:467 Caucasian sporadic colorectal cancer patients;Control:497 Caucasian controls										
130590		acute myeloid leukemia	CANCER	CAN	Leukemia, Myelomonocytic, Acute|Leukemia, Monocytic, Acute	11	11q23	MLL	117812414	117902749		Cimino G et al. 1995	7712464				myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005933.2		United States|France|Great Britain	KGB	4297	Hs.258855			Cancer research. 1995 Apr;55(8):1625-8	ALL-1 gene rearrangements in acute myeloid leukemia: association with M4-M5 French-American-British classification subtypes and young age.		159555	4531	1	1995												
130584		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p21.3	MLH1	37009982	37067341		Lee, K. M.  et al. 2005	15958648				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		120436	26412	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
130585		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Burmester, J. K.  et al. 2004	15583422				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		120436	27550	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
130587	Y	mammalian microsatellite instability	OTHER	OTH	Colorectal Neoplasms, Hereditary Nonpolyposis	14	14q24.3	MLH3	74550219	74587988		Lipkin SM et al. 2000	10615123				MutL homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040108.1			KGB	27030	Hs.436650			Nature genetics. 2000 Jan;24(1):27-35	MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability.		604395	6743	1	2000												
130581		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Mathonnet, G.  et al. 2003	14625810				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		120436	26409	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
130582		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Mathonnet, G.  et al. 2003	14510941				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Canada	CDC GDPinfo	4292	Hs.195364			British journal of haematology. 2003 Oct;123(1):45-8	Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.		120436	26410	2	2003	This study suggests an association of leukaemogenesis in children with both xenobiotic metabolism and DNA repair, and thus points to the effect of environmental exposure.	Case:287 French-Canadian children with acut lymphoblastic:leukemia;Control:320 French-Canadian healthy controls										
130583		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Chen, C. C.  et al. 2005	16172101				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		120436	26411	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
130577		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Hegde, M.  et al. 2005	16237223				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			The Journal of molecular diagnostics. 2005 Oct;7(4):525-34	Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.		120436	18295	2	2005												
130578		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Mangold, E.  et al. 2005	15849733				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	German		CDC GDPinfo	4292	Hs.195364			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):692-702	Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.		120436	18332	2	2005												
130580		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Fearnhead, N. S.  et al. 2004	15520370				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(45):15992-7	Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.		120436	26408	2	2004	This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.	Case:124 patients with multiple adenomas;Control:483 random controls										
130573		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Castellvi-Bel, S.  et al. 2005	16003840				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	Spanish	Spain	CDC GDPinfo	4292	Hs.195364			Cancer letters. 2005 Jul;225(1):93-8	Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.		120436	18291	2	2005												
130574		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Neoplasms, Second Primary	3	3p21.3	MLH1	37009982	37067341		Lawes, D. A.  et al. 2005	16106253				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			British journal of cancer. 2005 Aug;93(4):472-7	The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.		120436	18292	2	2005												
130576		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Woods, M. O.  et al. 2005	16203774				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Newfoundland	CDC GDPinfo	4292	Hs.195364			Clinical cancer research. 2005 Oct;11(19 Pt 1):6853-61	High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes.		120436	18294	2	2005	 It seems that strong and novel genetic causes of hereditary colorectal cancer are responsible for a high proportion of colorectal cancer in this population. Conditions are suitable for the identification of these genes by linkage studies of large Newfoundland cancer families.											
130569		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Casey, G.  et al. 2005	15713769				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			JAMA. 2005 Feb;293(7):799-809	Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.		120436	18287	2	2005	 The data confirm the heterogeneity of mismatch repair mutations and reveal that many mutations in colorectal cancer cases would be missed using conventional genomic DNA sequencing alone. Conversion analysis substantially increases the diagnostic yield of genetic testing for mismatch repair mutations in patients diagnosed as having colorectal cancer.	Cohort family members of colorectal cancer patients who participate in the Colon Cancer Family Registry Jun, 2002 - un, 2003 										
130570		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genomic Instability	3	3p21.3	MLH1	37009982	37067341		Chen, S.  et al. 2005	15831578				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Biostatistics (Oxford, England). 2005 Jul;6(3):450-64	Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study inBayesian meta-analysis of diagnostic tests without a gold standard.		120436	18288	2	2005												
130571		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Baudhuin, L. M.  et al. 2005	15858146				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			The Journal of molecular diagnostics. 2005 May;7(2):226-35	Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.		120436	18289	2	2005												
130566		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Kim, J. C.  et al. 2004	15340264				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	Korean	Korea	CDC GDPinfo	4292	Hs.195364			Familial cancer. 2004 ;3(2):129-37	Genotyping Possible Polymorphic Variants of Human Mismatch Repair Genes in Healthy Korean Individuals and Sporadic Colorectal Cancer Patients		120436	18284	2	2004	Among the 27 single nucleotide variants of mismatch repair genes, 12 were suggestive of nonfunctional SNPs and 15 may be colorectal cancer-related mutations. Further verification in other ethnic groups may provide the genotypic and phenotypic significance of single nucleotide variants found in mismatch repair genes.	Case:107 sporadic colorectal cancer patients and 107 of their first-degree relatives;Control:330 healthy individuals										
130567		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Domingo, E.  et al. 2004	15342696				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Journal of medical genetics. 2004 Sep;41(9):664-8	BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.		120436	18285	2	2004	 Detection of the V600E mutation in a colorectal MSI-H tumour argues against the presence of a germline mutation in either the MLH1 or MSH2 gene. Therefore, screening of these mismatch repair (MMR) genes can be avoided in cases positive for V600E if no other significant evidence, such as fulfilment of the strict Amsterdam criteria, suggests MMR associated HNPCC. In this context, mutation analysis of the BRAF hotspot is a reliable, fast, and low cost strategy which simplifies genetic testing for HNPCC.	Cohort 206/111 sporadic colorectal cancer cases with high microsatellite instability (n=206) and hereditary non-polyposis colorectal cancer (n=111) 										
130568		colorectal cancer	CANCER	CAN	Adenoma|Adenocarcinoma|Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Shia, J.  et al. 2005	15613860				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			The American journal of surgical pathology. 2005 Jan;29(1):96-104	Value of Immunohistochemical Detection of DNA Mismatch Repair Proteins in Predicting Germline Mutation in Hereditary Colorectal Neoplasms		120436	18286	2	2005	In conclusion, our study shows that 1) IHC identifies a significant portion of colorectal tumors derived from MMR gene germline mutation carriers and can be used as an adjunct measure in the identification of HNPCC families, but IHC cannot replace MSI testing; 2) adenomas have similar MMR protein expression patterns as carcinomas and may serve as an adequate sample for screening purposes in the identification of patients with MMR mutations; 3) not all IHC-positive cases show uniform positivity throughout the tumor; and 4) weak and focal staining of an MMR protein may be associated with MSI or gene mutation or both, suggesting the need to incorporate staining intensity in further IHC studies.	Cohort 110 patients who had strong family histories of colorectal cancer 										
130563		endometrial cancer	CANCER	CAN	Cystadenocarcinoma, Serous|Carcinoma, Papillary|Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Berends, M. J.  et al. 2003	14645426				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Journal of clinical oncology. 2003 Dec;21(23):4364-70	Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis.		120436	18281	2	2003	 In 23% of the young endometrial cancer patients with at least one first-degree relative with an HNPCC-related cancer, an MMR gene mutation was detected. Therefore, presence of an HNPCC-related cancer in a first-degree relative seems to be an important selection criterion for mutation analysis. Subsequent immunostaining of MMR proteins will point to the gene(s) that should be analyzed.	Cohort 58 endometrial cancer patients, diagnosed less than 50 years of age 	family history									
130564	Y	colorectal cancer; endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms|Neoplasms, Multiple Primary	3	3p21.3	MLH1	37009982	37067341		Cederquist, K.  et al. 2004	14961575				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Sweden	CDC GDPinfo	4292	Hs.195364			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):370-6	Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-basedstudy in northern Sweden		120436	18282	2	2004	We can conclude that patients with microsatellite unstable double primary cancers of the colorectum and the endometrium have a very high risk of carrying a mutation not only in MLH1 or MSH2 but also in MSH6, especially if they get their first cancer diagnosis before the age of 50.	Cohort patients with microsatellite unstable double primary tumours of the colorectum and the endometrium 										
130565		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Keller, M.  et al. 2004	15043284				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Diseases of the colon and rectum. 2004 Feb;47(2):153-62	Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: acomparison of participants and nonparticipants in genetic counseling		120436	18283	2	2004	 Results suggest that expressed intention and attitude toward genetic testing do not reliably predict actual uptake of counseling or testing. Thorough interdisciplinary counseling should be provided to every patient with clinical criteria suggestive of HNPCC. The considerable distress related to the hereditary disorder should be adequately addressed, as should be communication issues.	Cohort consecutively enrolled subjects from a regional tumor registry 1994-1998 										
130560		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Ovarian Neoplasms|Genital Neoplasms, Female|Endometrial Neoplasms	3	3p21.3	MLH1	37009982	37067341		Rijcken, F. E.  et al. 2003	14529665				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Gynecologic oncology. 2003 Oct;91(1):74-80	Gynecologic screening in hereditary nonpolyposis colorectal cancer		120436	18278	2	2003	 These results demonstrate that gynecologic screening allows the detection of premalignant lesions of the endometrium but also illustrate that recognition and reporting of clinical symptoms by the women themselves is of utmost importance.	Cohort 41 women, 35 premenopausal and 6 postmenopausal 										
130561		stomach cancer; pancreatic cancer; fallopian cancer	CANCER	CAN	Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease|Rare Diseases	3	3p21.3	MLH1	37009982	37067341		Levene, S.  et al. 2003	14574163				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Familial cancer. 2003 ;2(1):15-25	Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility?		120436	18279	2	2003	This study supports the premise that the occurrence of rare (especially double primary) cancers does indicate an increased cancer susceptibility, although the numbers of cases ascertained were too small to draw firm conclusions.	Cohort 77 individuals with rare cancers which occur with increased relative risk in carriers of germline BRCA1/BRCA2 (fallopian, young-onset pancreatic) or HNPCC (biliary, small intestinal, urothelial, gallbladder, young-onset pancreatic) mutations 										
130562		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Taylor, C. F.  et al. 2003	14635101				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Human mutation. 2003 Dec;22(6):428-33	Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrentdeletions by MLPA.		120436	18280	2	2003	We conclude that  MLPA is a cost effective and robust gene dosage method that can be readily adopted by diagnostic services. Comprehensive mutation scanning for MSH2 and MLH1 is incomplete without gene dosage analysis.	Cohort 215 patients referred for genetic testing on the basis of a family history consistent with autosomal dominant hereditary non-polyposis colorectal cancer UK 										
130557		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Hadley, D. W.  et al. 2003	12622604				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Archives of internal medicine. 2003 Mar;163(5):573-82	Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.		120436	18275	2	2003	 Genetic counseling and testing offers the potential to focus cancer screening resources in individuals truly at increased risk, thereby reducing mortality and morbidity. Fears of discrimination and concerns about psychological and psychosocial issues may present barriers to the use of current cancer prevention strategies, including genetic counseling and testing.	Cohort 111 eligible first-degree relatives of individuals with hereditary nonpolyposis colorectal cancer as part of a cohort study 										
130558		retinal function	UNKNOWN	UNK	Colorectal Neoplasms, Hereditary Nonpolyposis|Retinal Diseases	3	3p21.3	MLH1	37009982	37067341		Lubinski, W.  et al. 2003	12920342				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Ophthalmic research. 2003 Sep-Oct;35(5):281-94	Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriers.		120436	18276	2	2003	 Constitutional dysfunction of the inner retina appears to be a characteristic feature of HNPCC gene mutation carriers.	Control:controls;Case:19 carriers of HNPCC genes										
130559		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Wang, Y. P.  et al. 2003	12930688				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	Chinese		CDC GDPinfo	4292	Hs.195364			Zhonghua yi xue za zhi. 2003 Aug;83(15):1326-30	[Mutation analysis on MSH2 and MLH1 genes in patients of colorectal cancer at early age]		120436	18277	2	2003	 Mutations of mismatch repair genes are frequent in Chinese patients of CRC with onset at early ages.	Case:42 Chinese patients aged less than 50 with colorectal:cancer										
130554		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Terdiman, J. P.  et al. 2001	11208710				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Gastroenterology. 2001 Jan;120(1):21-30	Hereditary Nonpolyposis Colorectal Cancer Gene Carriers by Screening for Tumor Microsatellite Instability Before Germline Genetic Testing		120436	18272	2	2001	 The detection of high-frequency MSI or the loss of MSH2 or MLH1 immunostaining in CRCs are both useful criteria for selecting high-risk patients who should be tested for germline mutations in MSH2 or MLH1.	Case:114 eligible families enrolled in our high-risk colorectal cancer (CRC) registry										
130555		colorectal cancer, hereditary nonpolyposis	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Vasen, H. F.  et al. 2001	11600610				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Netherlands	CDC GDPinfo	4292	Hs.195364			Journal of clinical oncology. 2001 Oct;19(20):4074-80	MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditarynonpolyposis colorectal cancer families.		120436	18273	2	2001	 Pending large prospective studies, the extension of the current surveillance program in MSH2 mutation carriers with the inclusion of the urinary tract should be considered.	138 families with hereditary nonpolyposis colorectal cancer 										
130556		colorectal cancer, hereditary nonpolyposis	CANCER	CAN	Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Terdiman, J. P.  et al. 2002	11910346				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Gastroenterology. 2002 Apr;122(4):940-7	Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versuspopulation-based registry.		120436	18274	2	2002	 Family history of cancer is an important feature of HNPCC, even among individuals with early onset CRC. Caution must be undertaken when extrapolating data regarding HNPCC from high-risk clinic populations to the general population.	Cohort probands from a population-based Kaiser Permanente (KP) Health Plan cancer registry. Cohort Probands with CRC diagnosed before 36 years of age enrolled in a high-risk CRC clinic at the University of California, San Francisco (UCSF) 										
130551	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Park, S. H.  et al. 2004	15382050	(-93G->A)			MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Korea	CDC GDPinfo	4292	Hs.195364			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):678-82	-93G-->A polymorphism of hMLH1 and risk of primary lung cancer.		120436	12384	2	2004	These results suggest that the hMLH1 -93G-->A polymorphism could be used as a marker of genetic susceptibility to squamous cell carcinoma of the lung.	Control:371 healthy controls frequency-matched for age and sex;Case:372 lung cancer patients										
130552	Y	breast cancer; colorectal cancer; esophageal cancer; stomach cancer	CANCER	CAN	Breast Neoplasms|Digestive System Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Zhang, X. M.  et al. 2004	15769334				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	Chinese		CDC GDPinfo	4292	Hs.195364			Zhonghua liu xing bing xue za zhi. 2004 Nov;25(11):978-81	[Study on the relationship between genetic polymorphism Val384Asp in hMLH1 gene and the risk of four different carcinomas.]		120436	12385	2	2004	 Determination of Val384Asp in hMLH1 gene single nucleotide polymorphism seemed to be suitable for identifying individuals with increased risk of gastrointestinal cancer in the Chinese population.	Case:233/273/90/111 Chinese colorectal (n= 233), gastric (n=27), esophageal (n=90) and breast cancer (n=111):patients;Control:268 healthy individuals										
130553		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|DNA Damage|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341			16353134				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			International journal of cancer Journal international du cancer. 2005	Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53		120436	12386	2	2005												
130547	Y	hereditary non-polyposis colon cancer.	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Bronner CE et al. 1994	8145827				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Nature. 1994 Mar;368(6468):258-61	Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.		120436	4527	1	1994												
130548	Y	functional differences	OTHER	OTH	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Hutter P et al. 2000	11015456				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Journal of medical genetics. 2000 Oct;37(10):776-81	Two common forms of the human MLH1 gene may be associated with functional differences.		120436	4528	1	2000												
130549		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Raevaara TE 2003	12891553	del616			MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Gastroenterology. 2003 Aug;125(2):501-9	Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.		120436	4529	1	2003	 Our results suggest that the pathogenicity of hMLH1 del616 is not linked to nonfunctionality, but to shortage of the functional protein.											
130550	Y	colorectal cancer.	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Liu T et al. 1999	10598809				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Human genetics. 1999 Nov;105(5):437-41	Missense mutations in hMLH1 associated with colorectal cancer.		120436	4530	1	1999												
130543	Y	acute myeloid leukemia	CANCER	CAN	Leukemia, Myeloid|Acute Disease	3	3p21.3	MLH1	37009982	37067341		Seedhouse CH 2003	12529664			5'promoter	MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KEW	4292	Hs.195364			Leukemia. 2003 Jan;17(1):83-8			120436	4523	1	2003		Case:55										
130544		hypermethylation of the MLH1 gene	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Gazzoli I et al. 2002	12124320				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Cancer research. 2002 Jul;62(14):3925-8	A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.		120436	4524	1	2002												
130545	Y	Crohn's disease and ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	3	3p21.3	MLH1	37009982	37067341		Pokorny RM et al. 1997	9230812				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			KGB	4292	Hs.195364			Annals of surgery. 1997 Jun;225(6):718-23; discussion 723-5	Crohn's disease and ulcerative colitis are associated with the DNA repair gene MLH1.		120436	4525	1	1997	 This study identifies a novel genetic and clinical association between MLH1 and inflammatory bowel disease.											
130546	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Annese V et al. 2002	12011151				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	Italian	Italy	KGB	4292	Hs.195364			Journal of medical genetics. 2002 May;39(5):332-4	Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients.		120436	4526	1	2002												
130539		human vitiligo or osteopetrosis	OTHER	OTH	Osteopetrosis|Microphthalmos|Vitiligo	3	3p14.2-p14.1	MITF	69871322	70100177		Tripathi RK et al. 1999	10385915				Microphthalmia-associated transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198159.1			KGB	4286	Hs.166017			Pigment cell research. 1999 Jun;12(3):187-92	Microphthalmia-associated transcription factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation.		156845	4522	1	1999												
130540	N	obesity	METABOLIC	MET	Obesity	20	20p12	MKKS	10333832	10362866		Andersen, K. L.  et al. 2004	15483080				McKusick-Kaufman syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018848.2			CDC GDPinfo	8195	Hs.472119			The Journal of clinical endocrinology and metabolism. 2005 Jan;90(1):225-30	Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.		604896	18270	2	2004	In conclusion, it is unlikely that MKKS mutations play a major role in the pathogenesis of non-syndromic obesity although in rare cases the A242S allele may influence disease manifestation.	Case:744 men with juvenile-onset obesity;Control:867 control subjects										
130542	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia|Schizophrenia, Catatonic	22	22q13.33	MLC1	48839946	48866485		Verma, R.  et al. 2005	15992519				Megalencephalic leukoencephalopathy with subcortical cysts 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015166			CDC GDPinfo	23209	Hs.517729			Biological psychiatry. 2005 Jul;58(1):16-22	MLC1 gene is associated with schizophrenia and bipolar disorder in Southern India.		605908	18271	2	2005	 Association of MLC1 with SCZ and BPAD suggests involvement of a common pathway. Rare missense mutations and common variants associated with BPAD favors hypothesis about likely involvement of both rare and common polymorphisms in etiology of this complex disorder.											
130536		arthritis, psoriatic	IMMUNE	IMM		6	6p21.3	MICB	31573944	31586880		Feng, M. L.  et al. 2004	15304009				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Tissue antigens. 2004 Sep;64(3):281-5	Study on the haplotypes of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population.		602436	25236	2	2004	The microsatellite locus of exon 5 of the MICA gene and intron 1 of the MICB gene could therefore be used as genetic markers in the studies of anthropology, gene linkage analysis in genetic diseases, individual identification and paternity testing in forensic medicine.	Cohort 106 samples of the Guangzhou Han population China 										
130537		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	6	6p21.3	MICB	31573944	31586880		Shichi, D.  et al. 2005	16101831				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Tissue antigens. 2005 Sep;66(3):200-8	The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.		602436	26405	2	2005												
130538		arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	MICB	31573944	31586880		Gonzalez, S.  et al. 2002	12022360				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			The Journal of rheumatology. 2002 May;29(5):973-8	MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis.		602436	26406	2	2002	 Cw*0602 and MICA-A9 appear to be the strongest genetic susceptibility factors for PsA. However, MICA-A9 was associated independently of Cw6. HLA-B alleles and MICB-CA22 are associated secondarily to linkage with MICA. TNFA and HLA-DRB1 were not associated with PsA susceptibility, and our data suggest that their reported association may only reflect the linkage disequilibrium with MICA-A9 among the different populations studied.	Control:110 healthy controls;Case:81 Spanish patients with psoriatic arthritis										
130533	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p21.3	MICB	31573944	31586880		Ahmad, T.  et al. 2002	12392511				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Tissue antigens. 2002 Aug;60(2):164-79	High resolution MIC genotyping: Design andapplication to the investigation of inflammatory bowel disease susceptibility		602436	22869	2	2002	Analysis by individual allele or by multilocus haplotype failed to identify any significant disease associations.	Case:248/329 patients with Crohn's disease (n=248) and with ulcerative colitis (n=329);Control:354 ethnically matched controls										
130534		lupus erythematosus; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICB	31573944	31586880		Feng, M. L.  et al. 2004	15640005				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Yi chuan. 2004 May;26(3):291-4	[The Study on the Haplotype of MICA and MICB Microsatellite Locus In Guangzhou Han Population.]		602436	22870	2	2004	The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.	Cohort 106 individuals of Guangzhou Han Population China 										
130535		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICB	31573944	31586880		Hughes, E. H.  et al. 2005	16101830				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218	Caucasian		CDC GDPinfo	4277	Hs.211580			Tissue antigens. 2005 Sep;66(3):195-9	Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients.		602436	25235	2	2005												
130530		lupus erythematosus	IMMUNE	IMM		6	6p21.3	MICB	31573944	31586880		Kulski, J. K.  et al. 2002	11862397				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Immunogenetics. 2002 Feb;53(11-Oct):975-9	Alu polymorphism within the MICB gene and association with HLA-B alleles.		602436	12370	2	2002	The AluyMICB locus provides a useful dimorphic marker for investigations on the level of linkage disequilibrium between MICB, MICA, and HLA-B loci.	Cohort 109 Caucasians Cohort 200 northeastern Thais 										
130531		lupus erythematosus; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICB	31573944	31586880		Feng, M.  et al. 2004	15192843				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218	Chinese		CDC GDPinfo	4277	Hs.211580			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):294-6	[The polymorphism distributions of MICA and MICB microsatellite in Guangdong Han population]		602436	22867	2	2004	 The microsatellite of the exon 5 of MICA gene and the intron 1 of MICB gene could be used as the genetic markers of Chinese population in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.	Cohort 106 individuals of Guangdong Han population 										
130532		cardiomyopathy	CARDIOVASCULAR	CARD		6	6p21.3	MICB	31573944	31586880		Komatsu-Wakui, M.  et al. 2001	11169252				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDPinfo	4277	Hs.211580			Tissue antigens. 2001 Jan;57(1):8-Jan	Wide distribution of the MICA-MICB null haplotype in East Asians.		602436	22868	2	2001	The frequency of the MICA-MICB null haplotype was 3.7% on the average, and was strongly associated with HLA-B48 in seven East Asian populations.	Cohort seven East Asian populations 										
130527		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	MICA	31475539	31491069		Martinez, A.  et al. 2004	15077289				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		600169	27549	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
130528		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	MICA	31475539	31491069		Shao, W.  et al. 2004	15304010				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		600169	27790	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
130529		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Barton, A.  et al. 2002	11981324				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		600169	28537	2	2002	Review article											
130524	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	MICA	31475539	31491069		Gonzalez, S.  et al. 2004	15089901				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			The American journal of gastroenterology. 2004 Apr;99(4):676-80	Association of MHC class I related gene B (MICB) to celiac disease.		600169	27092	2	2004	 The expression of MIC genes on enterocytes under stressful conditions and their function as ligands of intraepithelial gammadelta and CD8 T cells, together with the data presented here suggest a potential role of MIC genes in the pathogenesis of CD.	Control:116:controls;Case:133/28 celiac disease patients (n=133) and an additional DQ2-negative patients (n=28)										
130525		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	MICA	31475539	31491069		Nejentsev, S.  et al. 2000	11118029				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		600169	27547	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
130526		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	MICA	31475539	31491069		Nikitina-Zake, L.  et al. 2004	15699512				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Latvia	CDC GDPinfo	4276	Hs.549053			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		600169	27548	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes										
130521		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	MICA	31475539	31491069		Lopez-Vazquez, A.  et al. 2004	15089899				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Africa, Northern	CDC GDPinfo	4276	Hs.549053			The American journal of gastroenterology. 2004 Apr;99(4):662-7	MHC class I region plays a role in the development of diverse clinical forms of celiac disease in a Saharawi population.		600169	26403	2	2004	 The elevated prevalence of CD in Saharawi seems to be related to the high frequency of HLA-DQ2 in this population. However, the development of atypical or typical forms of the disease may be due to a gene or genes located in the class I side of the haplotype B8/DR3/DQ2, especially MICA. This appears not to be implicated in the susceptibility to CD but may play an important role in the development of the different forms of the disease.	Case:125 celiac disease patients Spanish Sahara;Control:98 healthy controls										
130522	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gambelunghe, G.  et al. 2004	15522921				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Rheumatology (Oxford, England). 2005 Mar;44(3):287-92	Contribution of MHC class I chain-related A (MICA) gene polymorphism to genetic susceptibility for systemic lupus erythematosus.		600169	26404	2	2004	 Our study provides the first demonstration of the independent association of the MICA gene polymorphism with genetic risk of SLE.	Control:158 healthy controls;Case:48 Italian systemic lupus erythematosus patients										
130523		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Lopez-Vazquez, A.  et al. 2002	11839711				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Gut. 2002 Mar;50(3):336-40	MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.		600169	27091	2	2002	 Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.	Control:116 healthy controls;Case:133 Spanish celiac patients										
130518		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	MICA	31475539	31491069		Brown, M. A.  et al. 2002	12118167				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		600169	25233	2	2002	Review article											
130519		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Kochi, Y.  et al. 2004	14730600				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Japanese	Japan	CDC GDPinfo	4276	Hs.549053			Arthritis and rheumatism. 2004 Jan;50(1):63-71	Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences		600169	25234	2	2004	 These findings suggest that 1 or more other loci besides the HLA-DRB1 or other DRB1 (non-shared epitope, non-*0901) alleles are involved in RA susceptibility/protection.	Control:1,032:controls;Case:828 patients with rheumatoid arthritis										
130520		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Sanjeevi, C. B.  et al. 2002	12021089				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Annals of the New York Academy of Sciences. 2002 Apr;958:107-11	Genetics of latent autoimmune diabetes in adults.		600169	26402	2	2002	These findings suggest that certain genetic markers distinguish LADA better.											
130515		HIV; cytomegalovirus retinitis	INFECTION	INF	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gupta, M.  et al. 2004	15699508				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Swedish	Sweden	CDC GDPinfo	4276	Hs.549053			Annals of the New York Academy of Sciences. 2004 Dec;1037:138-44	Frequency of MICA in all babies in southeast Sweden (ABIS) positive for high-risk HLA-DQ associated with type 1 diabetes.		600169	25230	2	2004	The results from genetic typing in this study would be useful, in conjunction with results from autoantibody analysis that are prospectively being followed-up in all the babies, to develop an approach for identifying children at risk for developing T1DM. Inclusion of MICA typing in addition to HLA could be useful for screening of genetic markers associated with T1DM.	Cohort 2,821 newborns southeast Sweden 										
130516		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Fernandez, L.  et al. 2005	16116311				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Spanish	Spain	CDC GDPinfo	4276	Hs.549053			Inflammatory bowel diseases. 2005 Sep;11(9):785-91	A recombined haplotype in the major histocompatibility region contains a cluster of genes conferring high susceptibility to ulcerative colitis in the Spanish population.		600169	25231	2	2005	 The above-mentioned pattern, most likely formed by recombination of the telomeric fragment of the MHC 7.1 ancestral haplotype, seems to be the most important genetic determinant of susceptibility to the extensive form of UC in our population.											
130517		arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gonzalez, S.  et al. 2002	12022360				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			The Journal of rheumatology. 2002 May;29(5):973-8	MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis.		600169	25232	2	2002	 Cw*0602 and MICA-A9 appear to be the strongest genetic susceptibility factors for PsA. However, MICA-A9 was associated independently of Cw6. HLA-B alleles and MICB-CA22 are associated secondarily to linkage with MICA. TNFA and HLA-DRB1 were not associated with PsA susceptibility, and our data suggest that their reported association may only reflect the linkage disequilibrium with MICA-A9 among the different populations studied.	Control:110 healthy controls;Case:81 Spanish patients with psoriatic arthritis										
130512	N	amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	6	6p21.3	MICA	31475539	31491069		Medlej-Hashim, M.  et al. 2004	15018633				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			BMC medical genetics [electronic resource]. 2004 Feb;5:4	Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1and MICA polymorphisms effects.		600169	22866	2	2004	 The results suggest a protective effect of the SAA1 beta and gamma alleles on the development of amyloidosis and show the absence of a MICA modifying effect on amyloidosis development. Testing these polymorphisms on a larger sample will lead to more definite conclusions.	Case:30 Familial mediterranean fever patients with:amyloidosis;Control:40 Familial mediterranean fever patients without:amyloidosis										
130513		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Shichi, D.  et al. 2005	16101831				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2005 Sep;66(3):200-8	The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.		600169	25228	2	2005												
130514		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Lopez-Vazquez, A.  et al. 2002	11862400				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Immunogenetics. 2002 Feb;53(11-Oct):989-91	MICA-A5.1 allele is associated with atypical forms of celiac disease in HLA-DQ2-negative patients.		600169	25229	2	2002	The presence of MICA-A5.1 in atypical CD DQ2-negative patients may indicate a possible role of this allele in the development of CD.	Case:38 consecutive patients with celiac disease (from a group of 316 consecutive CD patients);Control:91 healthy blood donors										
130509		arthritis, psoriatic	IMMUNE	IMM		6	6p21.3	MICA	31475539	31491069		Feng, M. L.  et al. 2004	15304009				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2004 Sep;64(3):281-5	Study on the haplotypes of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population.		600169	22863	2	2004	The microsatellite locus of exon 5 of the MICA gene and intron 1 of the MICB gene could therefore be used as genetic markers in the studies of anthropology, gene linkage analysis in genetic diseases, individual identification and paternity testing in forensic medicine.	Cohort 106 samples of the Guangzhou Han population China 										
130510		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	MICA	31475539	31491069		Mok, J. W.  et al. 2003	14630402				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Korean	Korea	CDC GDPinfo	4276	Hs.549053			Human immunology. 2003 Dec;64(12):1190-4	Association of MICA polymorphism with rheumatoid arthritis patients in Koreans		600169	22864	2	2003	In Korean patients, HLA-DRB1*0405 was primarily associated with RA and the weak association of RA with MICA*A4 was secondary to that with HLA-DRB1*0405. Additionally, MICA*A9 might have a weak protective effect on the susceptibility to RA in Koreans.	Case:144 Korean patients with rheumatoid arthritis patients;Control:297 unrelated healthy controls										
130511	Y	Addison's disease	IMMUNE	IMM	Addison Disease|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Park, Y. S.  et al. 2002	12392510				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2002 Aug;60(2):155-63	Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease		600169	22865	2	2002	Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes.	Case:57 Caucasian patients with Addison's disease;Control:72/105 general population controls (n=72) and child controls carrying Addison's disease high-risk DR3-DQ2/DR4-DQ8 genotypes (n=105)										
130506	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Park, S. H.  et al. 2002	12068141				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Korean	Korea	CDC GDPinfo	4276	Hs.549053			Journal of Korean medical science. 2002 Jun;17(3):366-70	Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease.		600169	22860	2	2002	In conclusion, MICA*A6 rather than HLA-B51 was strongly associated with Korean patients with BD, and the MICA*A6 allele is a useful susceptibility marker of BD, especially in the HLA-B5-negative	Case:108 Korean Behcet's disease patients;Control:204 healthy controls										
130507	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICA	31475539	31491069		Mizuki, N.  et al. 2002	12492815				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Iranian	Iran	CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2002 Nov;60(5):396-9	Analysis of microsatellite polymorphism around the HLA-B locus in Iranian patients with Bechet's disease.		600169	22861	2	2002	As a result, three microsatellite alleles (MICA-A6, MIB-348, C1-4-1-217) and HLA-B51 were found to be strongly associated with BD. Of these alleles HLA-B51 is the most strongly associated allele. There were no alleles that were increased in allele frequency at any microsatellite loci centromeric of MICA or telomeric of HLA-B51. Therefore, HLA-B51 was confirmed to be by far the most strongly associated gene with BD in an Iranian population.	Case:84 Iranian Behcet's disease patients;Control:87 healthy ethnically matched controls										
130508		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICA	31475539	31491069		Hughes, E. H.  et al. 2005	16101830				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Caucasian		CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2005 Sep;66(3):195-9	Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients.		600169	22862	2	2005												
130503		lupus erythematosus; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICA	31475539	31491069		Feng, M. L.  et al. 2004	15640005				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Yi chuan. 2004 May;26(3):291-4	[The Study on the Haplotype of MICA and MICB Microsatellite Locus In Guangzhou Han Population.]		600169	18267	2	2004	The polymorphisms and haplotypes distributions of MICA and MICB microsatellite locus in Guangzhou Han population have their own genetic characteristics. The microsatellite locus of the exon5 of the MICA gene and intron 1 of the MICB gene could be used as the genetic markers in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.	Cohort 106 individuals of Guangzhou Han Population China 										
130504		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	MICA	31475539	31491069		Chang, Y. T.  et al. 2003	12653732				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese	China|Taiwan	CDC GDPinfo	4276	Hs.549053			The British journal of dermatology. 2003 Mar;148(3):418-23	A study of candidate genes for psoriasis near HLA-C in Chinese patients with psoriasis.		600169	22858	2	2003	 HLA-Cw6 remains the most significant susceptibility gene in Chinese patients with psoriasis. However, the role of the CDSN gene in the pathogenesis of psoriasis deserves further scrutiny.	Case:105 Chinese patients with psoriasis vulgaris;Control:160 control subjects of similar ages										
130505		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Salvarani, C.  et al. 2001	11508592				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Italian	Italy	CDC GDPinfo	4276	Hs.549053			The Journal of rheumatology. 2001 Aug;28(8):1867-70	Association of MICA alleles and HLA-B51 in Italian patients with Behcet's disease		600169	22859	2	2001	 HLA-B51 is the most important susceptibility gene in BD. Association with MICA-A6, when it exists, is secondary to the strong linkage disequilibrium with HLA-B51.	Control:130 healthy subjects from the same geographic area;Case:69 consecutive Italian patients who satisfied the International Study Group criteria for BD:Italy										
130500		cervical cancer	CANCER	CAN	Adenocarcinoma|Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Zoodsma, M.  et al. 2005	16061555				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Journal of medical genetics. 2005 Aug;42(8):e49	Analysis of the entire HLA region in susceptibility for cervical cancer: a comprehensive study.		600169	18264	2	2005	 There is an association of the region containing the HLA-DQ and HLA-DR genes with the risk of developing squamous cell carcinoma. An increased risk was observed for carriers of allele 184 at the MICA locus, in particular for homozygotes, suggesting a recessive effect.											
130501		cardiomyopathy	CARDIOVASCULAR	CARD		6	6p21.3	MICA	31475539	31491069		Komatsu-Wakui, M.  et al. 2001	11169252				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2001 Jan;57(1):8-Jan	Wide distribution of the MICA-MICB null haplotype in East Asians.		600169	18265	2	2001	The frequency of the MICA-MICB null haplotype was 3.7% on the average, and was strongly associated with HLA-B48 in seven East Asian populations.	Cohort seven East Asian populations 										
130502	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Ahmad, T.  et al. 2002	12392511				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2002 Aug;60(2):164-79	High resolution MIC genotyping: Design andapplication to the investigation of inflammatory bowel disease susceptibility		600169	18266	2	2002	Analysis by individual allele or by multilocus haplotype failed to identify any significant disease associations.	Case:248/329 patients with Crohn's disease (n=248) and with ulcerative colitis (n=329);Control:354 ethnically matched controls								N		
130496		lupus erythematosus; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICA	31475539	31491069		Feng, M.  et al. 2004	15192843				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese		CDC GDPinfo	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):294-6	[The polymorphism distributions of MICA and MICB microsatellite in Guangdong Han population]		600169	12371	2	2004	 The microsatellite of the exon 5 of MICA gene and the intron 1 of MICB gene could be used as the genetic markers of Chinese population in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.	Cohort 106 individuals of Guangdong Han population 										
130497		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Cohen, R.  et al. 2002	11796403				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Israel	CDC GDPinfo	4276	Hs.549053			Annals of the rheumatic diseases. 2002 Feb;61(2):157-60	Association of the MIC-A gene and HLA-B51 with Bechet's disease in Arabs and non-Ashkenazi Jews in Israel.		600169	18261	2	2002	 These results imply strong association between the MIC-A A6 allele and the disease in Israeli Arabs, but not in Israeli NAJ patients. The stratification analysis indicates that this association results secondarily from a strong linkage disequilibrium with HLA-B51, and the real disease susceptibility gene which plays a part in the development of Beh??'s disease is most probably the HLA-B51 allele itself.	Control:130 ethnically matched healthy controls;Case:44 Israeli patients with Behcet's disease, including 20 Arabs and 24 NA										
130498		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	MICA	31475539	31491069		Ban, G. H.  et al. 2001	11797336				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese		CDC GDPinfo	4276	Hs.549053			Yi chuan xue bao. 2001 ;28(12):1085-92	[Distribution of MICA microsatellite in 13 population groups of China]		600169	18262	2	2001	The results show that the distribution of MICA microsatellite is different in these population groups, and the polymorphism information contents (PIC) of this microsatellite is high. It is a potential useful marker in the study of human origin and migration, personal identification, gene mapping and location, and disease diagnosis.	Cohort 577 samples in 13 population groups of China, which are Han-YN, Han-GD, Han-SD, Bai, Dai, Lahu, Li, Naxi, Sala, She, Tu, Wa and Zang-YN China 										
130492		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	MICA	31475539	31491069		Gong, W.  et al. 2002	12170475				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese		CDC GDPinfo	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):336-9	[Analysis on polymorphism in exons 2,3 and 4 of the MICA gene in three different Chinese populations]		600169	12366	2	2002	 MICA gene displayed different allele distributions in different populations.	Cohort 183/41/66 random healthy individuals in Han population(n=183), in Dai population(n=41) and in Uygur population (n=66) 										
130493	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gupta, M.  et al. 2003	12691706				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Swedish	Sweden	CDC GDPinfo	4276	Hs.549053			Human immunology. 2003 May;64(5):553-61	Association between the transmembrane region polymorphism of MHC class I chain related gene-A and type 1 diabetes mellitus in Sweden.		600169	12367	2	2003	In conclusion, MIC-A5 is associated with T1DM; the association was higher in individuals	Control:503 matched controls;Case:635 type 1 diabetic patients										
130494		nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICA	31475539	31491069		Tian, W.  et al. 2005	15952123				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese		CDC GDPinfo	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):309-12	[Polymorphism of short tandem repeat of exon 5 of MHC class-I chain related gene A and association with nasopharyngeal carcinoma in a southern Chinese population]		600169	12368	2	2005	 MICA-STR polymorphism is associated with NPC, and MICA*A9 is a genetic susceptibility marker of male individuals for NPC in a southern Chinese population.											
130488		polymyositis and dermatomyositis.	IMMUNE	IMM	Dermatomyositis|Polymyositis	6	6p21.3	MICA	31475539	31491069		Hassan AB 2004	15022353			haplotype	MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			Arthritis and rheumatism. 2004 Mar;50(3):1013-5	Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis.		600169	4520	1	2004												
130490		nasopharyngeal cancer	CANCER	CAN		6	6p21.3	MICA	31475539	31491069		Xiao, C.  et al. 2000	11110982				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Chinese		CDC GDPinfo	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):424-8	[Studies on the polymorphism of MICA gene in four Chinese populations]		600169	12364	2	2000	 Alleles of MICA gene exon 5 are conservative in all populations studied so far. The results suggest that genetically BMT might be an independent ethnic population.											
130491	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Sugimura, K.  et al. 2001	11169253				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Japanese		CDC GDPinfo	4276	Hs.549053			Tissue antigens. 2001 Jan;57(1):14-Sep	A close relationship of triplet repeat polymorphism in MHC class I chain-related gene A (MICA) to the disease susceptibility and behavior in ulcerative colitis.		600169	12365	2	2001	Phenotypes of MICA A6 allele in Japanese are closely related to the disease susceptibility and behavior in UC.	Control:132 unrelated individuals:Japan;Case:83 patients with ulcerative colitis:Japan										
130484	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Nutrition Disorders|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Sanjeevi CB et al. 2002	12021138				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	eastern India	India	Y Wang	4276	Hs.549053			Annals of the New York Academy of Sciences. 2002 Apr;958:341-4	MHC class I chain-related gene a alleles distinguish malnutrition-modulated diabetes, insulin-dependent diabetes, and non-insulin- dependent diabetes mellitus patients from eastern India.		600169	4516	1	2002												
130485		ocular histoplasmosis syndrome	VISION	VIS	Eye Infections, Fungal|Histoplasmosis|Retinal Diseases|Syndrome	6	6p21.3	MICA	31475539	31491069		Reinders J 2003	12963865				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			Molecular vision [electronic resource]. 2003 Sep;9:420-4	MICA association with presumed ocular histoplasmosis syndrome (POHS).		600169	4517	1	2003	 We conclude that the MICA alanine repeat is not a disease-associated factor in POHS. Further analysis of other genes in the B-DR region might elucidate the association of POHS with B7-DR2.											
130486	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gupta M 2004	12691706				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Swedish Caucasians	Sweden	Y Wang	4276	Hs.549053			Human immunology. 2003 May;64(5):553-61	Association between the transmembrane region polymorphism of MHC class I chain related gene-A and type 1 diabetes mellitus in Sweden.		600169	4518	1	2003	In conclusion, MIC-A5 is associated with T1DM; the association was higher in individuals	Control:503 matched controls;Case:635 type 1 diabetic patients										
130480	Y	latent autoimmune diabetes	OTHER	OTH	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Berzina L et al. 2002	12021141				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Latvia	KGB	4276	Hs.549053	late neurological presentation		Annals of the New York Academy of Sciences. 2002 Apr;958:353-6	Microsatellite allele A5.1 of MHC class I chain-related gene A is associated with latent autoimmune diabetes in adults in Latvia.		600169	4512	1	2002	We conclude that  (a) MICA allele A5.1 is associated with LADA and (b) MICA may play an important role in the etiopathogenesis of LADA.											
130482	N	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICA	31475539	31491069	n	Gonzalez-Escribano MF et al. 1999	10519365				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Spain	KGB	4276	Hs.549053			Tissue antigens. 1999 Sep;54(3):278-81	Lack of association of MICA transmembrane region polymorphism and Behcet's disease in Spain.		600169	4514	1	1999	We conclude that , in contrast to previous finding reporting a strong association of MICA-TM genes and Beh?? disease in Japanese patients, in our population HLA-B51 is more closely associated to Beh?? susceptibility than MICA-TM genes. Finally, our data show that in Spain, as occurs in other populations, some MICA-TM alleles exhibit strong linkage disequilibrium with certain alleles of the HLA-B locus.											
130483	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Bilbao JR et al. 2002	12021133				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Basques	France|Spain	Y Wang	4276	Hs.549053			Annals of the New York Academy of Sciences. 2002 Apr;958:321-4	Contribution of MIC-A polymorphism to type 1 diabetes mellitus in Basques.		600169	4515	1	2002												
130476	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	6	6p21.3	MICA	31475539	31491069		Kawabata Y et al. 2000	10825591				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			Human immunology. 2000 Jun;61(6):624-9	Age-related association of MHC class I chain-related gene A (MICA) with type 1 (insulin-dependent) diabetes mellitus.		600169	4508	1	2000												
130477	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICA	31475539	31491069		Mizuki N et al. 1997	9037047				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Japan	KGB	4276	Hs.549053			Proceedings of the National Academy of Sciences of the United States of America. 1997 Feb;94(4):1298-303	Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease.		600169	4509	1	1997												
130478	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	MICA	31475539	31491069		Gambelunghe G et al. 2000	10819246				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Italy	KGB	4276	Hs.549053			Diabetologia. 2000 Apr;43(4):507-14	Association of MHC Class I chain-related A (MIC-A) gene polymorphism with Type I diabetes.		600169	4510	1	2000												
130479	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Martinez A et al. 2001	11407684				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			Arthritis and rheumatism. 2001 Jun;44(6):1261-5	Primary association of a MICA allele with protection against rheumatoid arthritis.		600169	4511	1	2001	 These data suggest that the MICA 6.0 allele is an independent marker of protection against RA in the SE+ group of RA patients.											
130473		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Koizumi, K.  et al. 2005	15897313				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDPinfo	4261	Hs.126714			Annals of the rheumatic diseases. 2005 Jun;64(6):947-50	Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus.		600005	9407	2	2005	 A newly identified polymorphism in an intronic region at nt 485 (A-->A/G) may have an important role in the pathogenesis of SLE.	Control:100 healthy donors;Case:100 patients with systemic lupus erythematosus										
130474	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	MICA	31475539	31491069		Park Y et al. 2001	11194237				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Korean	Korea	KGB	4276	Hs.549053			Diabetes care. 2001 Jan;24(1):33-8	MICA polymorphism is associated with type 1 diabetes in the Korean population.		600169	4506	1	2001	 We could assess that the MICA gene might be associated with type 1 diabetes transracially independent of the HLA gene.											
130475	N	skin cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069	n	Kennedy C et al. 2002	11918717				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			The Journal of investigative dermatology. 2002 Apr;118(4):686-91	MICA gene polymorphism is not associated with an increased risk for skin cancer.		600169	4507	1	2002	We conclude that  an association between MICA gene polymorphism and nonmelanoma skin cancer is not likely.											
130469		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q23	MGST3	163867073	163891479		Thameem F 2003	12898215				Microsomal glutathione S-transferase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004528.2			KGB	4259	Hs.191734			Human genetics. 2003 Sep;113(4):353-8	Evaluation of the microsomal glutathione S-transferase 3 (MGST3) locus on 1q23 as a Type 2 diabetes susceptibility gene in Pima Indians.		604564	4504	1	2003	We conclude that  alterations of MGST3 are unlikely to contribute to T2DM or differences in insulin sensitivity in the Pima Indians.											
130470	Y	autoimmune inflammatory disease	IMMUNE	IMM	Arthritis, Rheumatoid|Multiple Sclerosis|Myocardial Infarction|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341	0.038 MS	Swanberg M 2005	15821736	-168A --> G polymorphism in the type III promoter	lower expression of MHC2TA after stimulation of leukocytes with interferon-gamma	5'promoter	Class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	Swedish		KGB	4261	Hs.126714	rheumatoid arthritis, multiple sclerosis, myocardial infarction		Nature genetics. 2005 May;37(5):486-94	MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction.		600005	4505	1	2005	We conclude that  polymorphisms in Mhc2ta and MHC2TA result in differential MHC molecule expression and are associated with susceptibility to common complex diseases with inflammatory components.											
130471		hepatitis B	INFECTION	INF		16	16p13	CIITA	10878557	10926341		Patarroyo, J. C.  et al. 2002	11857059				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDPinfo	4261	Hs.126714			Genes and immunity. 2002 Feb;3(1):34-7	Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA).		600005	9405	2	2002	not included in abstract	Cohort 50 individuals not otherwise specified 										
130465	Y	tooth loss	UNKNOWN	UNK	Tooth Loss	12	12p13.1-p12.3	MGP	14926093	14930095		Hirano, H.  et al. 2003	12721790				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2		Japan	CDC GDPinfo	4256	Hs.365706			Journal of human genetics. 2003 ;48(6):288-92	Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women		154870	18259	2	2003	These results suggest that genetic variation at the MGP gene locus is associated with some determinants for tooth loss in elderly women.	Cohort 458 elderly Japanese women 										
130466		bone density; coronary calcification	METABOLIC	MET	Coronary Artery Disease|Calcinosis	12	12p13.1-p12.3	MGP	14926093	14930095		Taylor, B. C.  et al. 2005	15744522				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDPinfo	4256	Hs.365706			Human genetics. 2005 May;116(6):525-8	Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study.		154870	19696	2	2005												
130467	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	12	12p12.3-p12.1	MGST1	16391342	16408611		Schneider, A.  et al. 2004	15338373				Microsomal glutathione S-transferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145792.1			CDC GDPinfo	4257	Hs.389700			Journal of gastroenterology. 2004 Aug;39(8):783-7	Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis		138330	26401	2	2004	 We conclude that genetic alterations in the MGST1, GSTM3, GSTT1, and GSTM1 genes do not play a dominant role in hereditary pancreatitis.	Control:183:controls;Case:30 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations to analyzie the entire coding region of MGST1 and GSTM3;Control:55:controls;Case:75/135 hereditary pancreatitis patients who had been tested negative for PRSS1 mutations (n=75) and patients with a PRSS1 mutation (n=135) to analyzie the entire coding region of GSTT1 and GSTM1										
130460		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	10	10q26	MGMT	131155455	131455358		Zienolddiny, S.  et al. 2005	16195237				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		156569	28171	2	2005												
130461		myocardial infarction; plaque calcification	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Calcinosis	12	12p13.1-p12.3	MGP	14926093	14930095		Herrmann, S. M.  et al. 2000	11073842				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDPinfo	4256	Hs.365706			Arteriosclerosis, thrombosis, and vascular biology. 2000 Nov;20(11):2386-93	Polymorphisms of the human matrix gla protein (MGP) gene, vascular calcification, and myocardial infarction		154870	12358	2	2000	We conclude that  the A-7 or Ala 83 alleles of the MGP gene may confer an increased risk of plaque calcification and MI; however, the observed relationships are weak or limited to subgroups of patients and therefore need confirmation.	Case:607 patients with MI recruited into the ECTIM Study;Control:667 control subjects recruited into the ECTIM Study										
130462	Y	lead toxicity	METABOLIC	MET	Lead Poisoning	12	12p13.1-p12.3	MGP	14926093	14930095		Zhang, W.  et al. 2003	14963895	T-138C			Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDPinfo	4256	Hs.365706			Wei sheng yan jiu. 2003 Nov;32(6):514-5	[Study on association of polymorphism of MGP(T-138C) gene and blood lead level in children]		154870	12359	2	2003	The results indicated that the T-138C polymorphism of MGP gene in promoter region influenced blood lead level in children lived in lead pollution area.	Cohort 355 children aged at 6 to 12 years old living in lead pollution area 										
130457		body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	CANCER	CAN		10	10q26	MGMT	131155455	131455358		Ford, B. N.  et al. 2000	11062157				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Carcinogenesis. 2000 Nov;21(11):1977-81	Identification of single nucleotide polymorphisms in human DNA repair genes.		156569	26400	2	2000	Using this approach, possible associations of sequence variation, and hence of variation in DNA repair, with disease risk can be assessed.	Cohort 142 healthy individuals 										
130458		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Sepehr, A.  et al. 2004	15327835				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Iranian, Turkoman	Asia|Iran	CDC GDPinfo	4255	Hs.501522			Cancer letters. 2004 Sep;213(2):195-202	Genetic polymorphisms in three Iranian populations with different risks of esophageal cancer, an ecologic comparison.		156569	28082	2	2004	We conclude that  it is unlikely that variations in these polymorphic genes are major contributors to the high incidence of EC among Turkomans in Iran.	Cohort individuals from three Iranian ethnic groups (high-risk Turkomans, medium-risk Turks, and low-risk Zoroastrian Persians) Iran 										
130459		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	10	10q26	MGMT	131155455	131455358		Xing, D.  et al. 2003	12883749				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Chinese	China	CDC GDPinfo	4255	Hs.501522			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		156569	28083	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
130453		cytogenetic studies	OTHER	OTH	DNA Damage	10	10q26	MGMT	131155455	131455358		Rzeszowska-Wolny, J.  et al. 2005	16038584				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Radiation research. 2005 Aug;164(2):132-40	Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro.		156569	22855	2	2005												
130454		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	10	10q26	MGMT	131155455	131455358		Huang, W. Y.  et al. 2005	16030112				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1747-53	Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer: apooled analysis.		156569	22856	2	2005			alcohol smoking (tobacco)									
130455		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasms, Second Primary	10	10q26	MGMT	131155455	131455358			16369171				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			The Laryngoscope. 2005 Dec;115(12):2221-31	DNA Repair Gene Polymorphisms and Risk of Second Primary Neoplasms and Mortality in Oral Cancer Patients		156569	22857	2	2005	 Polymorphisms in the DNA repair enzyme gene XRCC3 241Met was associated with an increased risk of second neoplasms, and polymorphisms of the XRCC1 399Gln gene were associated with a decreased risk of all-cause mortality in patients with primary OSCC. These findings require confirmation in other populations before the clinical implications can be considered.											
130456		colorectal cancer; colorectal polyps	CANCER	CAN	Adenoma|Colorectal Neoplasms|Colonic Polyps|Genetic Predisposition to Disease|Hyperplasia	10	10q26	MGMT	131155455	131455358		Bigler, J.  et al. 2005	16284370				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2501-8	DNA repair polymorphisms and risk of colorectal adenomatous or hyperplastic polyps.		156569	25227	2	2005			smoking (tobacco)									
130449		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q26	MGMT	131155455	131455358		Ritchey, J. D.  et al. 2005	16030105				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2		China	CDC GDPinfo	4255	Hs.501522			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1703-9	Genetic variants of DNA repair genes and prostate cancer: a population-based study.		156569	20203	2	2005			insulin reistance									
130450		brain cancer	CANCER	CAN	Astrocytoma|Glioblastoma	10	10q26	MGMT	131155455	131455358		Wiencke, J. K.  et al. 2005	16030116				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2		San Francisco	CDC GDPinfo	4255	Hs.501522			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1774-83	Molecular features of adult glioma associated with patient race/ethnicity, age, and a polymorphism in O6-methylguanine-DNA-methyltransferase.		156569	22852	2	2005	 Our results are consistent with ethnic variation in glioma pathogenesis. The data on MGMT show that an inherited factor involving the repair of methylation and other alkylation damage, specifically to the O6 position of guanine, may be associated with the development of tumors that proceed in their development without TP53 mutations or accumulation of TP53 protein and possibly also those that do not involve amplification of the EGFR locus.											
130452		stomach cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage	10	10q26	MGMT	131155455	131455358		Huang, W. Y.  et al. 2005	15802298				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Polish	Poland	CDC GDPinfo	4255	Hs.501522			Carcinogenesis. 2005 Aug;26(8):1354-9	Selected DNA repair polymorphisms and gastric cancer in Poland.		156569	22854	2	2005	Selected DNA repair polymorphisms did not have independent effects on gastric cancer risk, however, they may modify smoking- and possible diet-related risks for this disease. There results need replication in larger epidemiological studies of gastric cancer.	Case:281 incident gastric cancer cases:Warsaw, Poland;Control:390:controls	diet smoking (tobacco)									
130445		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	10	10q26	MGMT	131155455	131455358		Krzesniak, M.  et al. 2004	15225156				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Polish	Poland	CDC GDPinfo	4255	Hs.501522			Annals of human genetics. 2004 Jul;68(Pt 4):300-12	Polymorphisms in TDG and MGMT Genes - Epidemiological and Functional Study in Lung Cancer Patients from Poland		156569	14198	2	2004	 This work points to the importance of studying the expression-regulating elements of genes, as they may contain functional polymorphisms with the potential for modulating risk of various diseases, including cancer.	Control:controls;Case lung cancer cases										
130446	N	melanoma	CANCER	CAN	Melanoma	10	10q26	MGMT	131155455	131455358		Egyhazi, S.  et al. 2002	12402349				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2		Sweden	CDC GDPinfo	4255	Hs.501522			Human mutation. 2002 Nov;20(5):408-9	Novel O6-methylguanine-DNA methyltransferase SNPs:a frequency comparison of patients with familial melanoma and healthy individuals in Sweden.		156569	18256	2	2002	When the distribution of specific SNPs in cases and controls with only one variant was calculated; C575A was present only in melanoma patients (p=0.072). Moreover, while 20% of the healthy individuals had no SNPs this was the case in only 12.4% of the melanoma patients. However, no statistically significant differences were seen between cases and controls for any of the 11 SNPs.	Control:76 healthy blood donors;Case:89 melanoma patietns, each belonging to a different family with a hereditary predisposition for:melanoma										
130448		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q26	MGMT	131155455	131455358		Shen, J.  et al. 2005	16014702				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2		New York	CDC GDPinfo	4255	Hs.501522			Carcinogenesis. 2005 Dec;26(12):2131-7	MGMT genotype modulates the associations between cigarette smoking, dietary antioxidants and breast cancer risk.		156569	18258	2	2005			diet smoking (tobacco)									
130442	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Yang, M.  et al. 2004	15140540				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Lung cancer (Amsterdam, Netherlands). 2004 Jun;44(3):281-6	Lack of association between Caucasian lung cancer risk and O6-methylguanine-DNA methyltransferase-codon 178 genetic polymorphism.		156569	12355	2	2004	Thus, our study suggests that the MGMT codon 178 (and possibly 143) polymorphisms do not appear to markedly affect lung cancer risk for this population. In addition, we found an apparent 10bp-deletion in the intron before exon 5 by DNA sequencing. Because this "deletion" was observed in all sequenced samples, the previously reported human (Caucasian) MGMT gene sequence should be revised to exclude this 10bp segment.	Control:85:controls;Case:92 Caucasian lung cancer patients										
130443		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Li, C.  et al. 2005	15885889				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Chinese		CDC GDPinfo	4255	Hs.501522			Cancer letters. 2005 Sep;227(1):49-57	Exon 3 polymorphisms and haplotypes of O6-methylguanine-DNA methyltransferase and risk of bladder cancer in southern China: a case-controlanalysis.		156569	12356	2	2005	In conclusion, these two MGMT polymorphisms may jointly play a role, in the etiology of bladder cancer in southern Chinese population. Larger studies are warranted to validate our findings.	Case:167 patients with bladder cancer southern China;Control:204 cancer-free controls frequency-matched by age, sex, smoking status, and alcohol use										
130444		cytogenetic studies	OTHER	OTH		10	10q26	MGMT	131155455	131455358		Hill, C. E.  et al. 2005	16007001				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Pharmacogenetics and genomics. 2005 Aug;15(8):571-8	The L84F and the I143V polymorphisms in the O6-methylguanine-DNA-methyltransferase (MGMT) gene increase human sensitivity to the genotoxic effects of the tobacco-specific nitrosamine carcinogen NNK.		156569	12357	2	2005												
130437	Y	hyperparathyroidism	METABOLIC	MET	Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Warner, J.  et al. 2004	14985373				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2		Australia	CDC GDPinfo	4221	Hs.423348			Journal of medical genetics. 2004 Mar;41(3):155-60	Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.		131100	25226	2	2004	These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP.	Cohort 22 unrelated subjects with familial isolated hyperparathyroidism phenotype 										
130438		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	6	6p12-p11	MEP1A	46869085	46915474			16378686				Meprin A, alpha (PABA peptide hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005588.1			CDC GDPinfo	4224	Hs.179704			Neuroscience letters. 2005	Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG		600388	22851	2	2005												
130440	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q24.1-q24.3	MGEA5	103534198	103568165		Farook, V. S.  et al. 2002	12359146				Meningioma expressed antigen 5 (hyaluronidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012215.1	Pima Indian	Arizona	CDC GDPinfo	10724	Hs.500842			Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):189-93	Analysis of MGEA5 on 10q24.1-q24.3 encoding the beta-O-linked N-acetylglucosaminidase as a candidate gene for type 2 diabetes mellitus in Pima Indians		604039	18255	2	2002	We conclude that  mutations in MGEA5 are unlikely to contribute to T2DM in this population.	Cohort ~1,300 Pima Indians 										
130434		multiple endocrine neoplasia	CANCER	CAN	Adrenal Gland Neoplasms|Multiple Endocrine Neoplasia Type 1|Pituitary Neoplasms|Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Sakurai, A.  et al. 2004	15034196				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			Endocrine. 2004 Feb;23(1):45-9	Clinical and Genetic Features of Patients with Multiple Endocrine Tumors Who Have neither Family History nor MEN1 Germline Mutations		131100	18252	2	2004	In contrast to a previous report, we found that MEN1 phenocopy patients are not necessarily older than probands of familial MEN1. Phenotypic expression of such patients is variable, thus differentiation of familial MEN1 and MEN1 phenocopy cannot be made based on age and clinical phenotype alone.	Cohort 53 MEN1 patients seen during the last 20 years 										
130435		multiple endocrine neoplasia type 1	CANCER	CAN	Multiple Endocrine Neoplasia Type 1	11	11q13	MEN1	64327569	64335342		Ellard, S.  et al. 2005	15670192				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			Clinical endocrinology. 2005 Feb;62(2):169-75	Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.		131100	18253	2	2005	 The likelihood of finding an MEN1 mutation depends on the clinical features of the patient and their family. This large series supports present referral criteria for diagnostic mutation screening, but suggests that patients with sporadic isolated tumours rarely have MEN1 mutations.	Cohort 292 multiple endocrine neoplasia type 1 cases 										
130436		hyperparathyroidism	METABOLIC	MET	Multiple Endocrine Neoplasia Type 1|Parathyroid Neoplasms|Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Scarpellil, D.  et al. 2004	15754732				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			Journal of endocrinological investigation. 2004 Dec;27(11):1015-21	Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.		131100	18254	2	2004	In conclusion, our data demonstrate the presence of somatic alterations of the MEN1 tumor suppressor gene in about one fifth of benign sporadic parathyroid tumors. The absence of a genotype-phenotype correlation, however, suggests the involvement of other genetic/epigenetic factors for the full expression of the disease.	Cohort 39 patients who had undergone surgery for sporadic primary hyperparathyroidism (35 with parathyroid adenoma or hyperplasia, 4 with a carcinoma) 										
130431	Y	hyperparathyroidism	OTHER	OTH	Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Correa, P.  et al. 2002	12324758				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			Surgery. 2002 Sep;132(3):450-5	Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism		131100	12354	2	2002	 We report that the MM genotype was overrepresented in pHPT patients compared with control participants, suggesting a novel marker for pHPT. Furthermore, the MM genotype was associated with higher BMD at the femoral neck and in the total body in the screening-recruited control participants.	Case sporadic primary hyperparathyroidism patients;Control:controls										
130432	Y	pituitary cancer	CANCER	CAN	Multiple Endocrine Neoplasia Type 1|Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Kopp, I.  et al. 2001	11369988				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			World journal of surgery. 2001 May;25(5):610-6	Predictive genetic screening and clinical findings in multiple endocrine neoplasia type I families.		131100	18250	2	2001	We show that mutation analysis enables predictive genetic screening for MEN-I families, providing a valuable tool for genetic counseling and clinical management. An extensive clinical screening program focusing on genetically proven individuals at risk allows detection of MEN-I manifestations at an early, asymptomatic stage of the disease. Controlled, prospective studies are now required to prove whether timely appropriate treatment on the basis of predictive screening might help improve disease-related quality of life and prolong life expectancy in MEN-I kindreds.	Cohort MEN-I patients 										
130433		pituitary cancer	CANCER	CAN	Adenoma|Multiple Endocrine Neoplasia Type 1|Pituitary Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	11	11q13	MEN1	64327569	64335342		Verges, B.  et al. 2002	11836268				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDPinfo	4221	Hs.423348			The Journal of clinical endocrinology and metabolism. 2002 Feb;87(2):457-65	Pituitary disease in MEN type 1 (MEN1): data fromthe France-Belgium MEN1 multicenter study.		131100	18251	2	2002	Our study, based on a large group of MEN1 patients, shows that pituitary adenomas occur in 42% of the cases and are characterized by a larger size and a more aggressive presentation than without MEN1.	Cohort 197 MEN1 patients 										
130429	Y	Multiple endocrine neoplasia type 1	OTHER	OTH	Multiple Endocrine Neoplasia Type 1|Diseases in Twins	11	11q13	MEN1	64327569	64335342		Tso AW 2003	12807514				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2	chinese	China	KGB	4221	Hs.423348			Clinical endocrinology. 2003 Jul;59(1):129-35	Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.		131100	4498	1	2003	 The finding of MEN1 germ-line mutation in all patients with familial MEN1 syndrome suggests that genetic screening should be useful in our population to identify affected individuals within a kindred and allow early detection of MEN1-related tumours.											
130430		Cushing's disease	OTHER	OTH	Multiple Endocrine Neoplasia Type 1|Pituitary Neoplasms|Cushing Syndrome	11	11q13	MEN1	64327569	64335342		Matsuzaki LN 2004	14678300				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			KGB	4221	Hs.423348			Clinical endocrinology. 2004 Jan;60(1):142-3	Cushing's disease as the first clinical manifestation of multiple endocrine neoplasia type 1 (MEN1) associated with an R460X mutation of the MEN1 gene.		131100	4499	1	2004												
130423		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Moutereau, S.  et al. 2004	15146467				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Human mutation. 2004 Jun;23(6):621-8	An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.		608107	25224	2	2004	Thus, we devised a strategy that allows us to monitor the possible interference of additional mutations or SNPs at probe or stabilizer sequences. Finally, a comparative cost per sample analysis demonstrates that the accurate and reproducible FMF mutation detection assay we developed can be readily implemented in the clinical laboratory setting at reasonable expense. Hum Mutat											
130425		unknown	CANCER	CAN	Vipoma|Adenoma|Insulinoma|Gastrinoma|Pancreatic Neoplasms|Multiple Endocrine Neoplasia Type 1|Parathyroid Neoplasms	11	11q13	MEN1	64327569	64335342		Bartsch D et al. 1998	9820618				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			KGB	4221	Hs.423348			European journal of endocrinology. 1998 Oct;139(4):416-20	MEN1 gene mutations in 12 MEN1 families and their associated tumors.		131100	4494	1	1998												
130426	N	lymphoid neoplasms	OTHER	OTH	Burkitt Lymphoma|Lymphoma|Lymphoma, B-Cell|Lymphoma, T-Cell|Multiple Endocrine Neoplasia Type 1	11	11q13	MEN1	64327569	64335342	n	Thieblemont C et al. 1999	10049065				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			KGB	4221	Hs.423348			Leukemia. 1999 Jan;13(1):85-91	Allelic loss of 11q13 as detected by MEN1-FISH is not associated with mutation of the MEN1 gene in lymphoid neoplasms.		131100	4495	1	1999	Our study indicates that the 11q13 locus is a frequent target of deletion in lymphoid neoplasms, but that there are no associated mutations of the MEN1 gene. This suggests that the 11q deletions either target another gene in lymphomas, or that the MEN1 gene is inactivated through means other than mutation.											
130419		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Delibas, A.  et al. 2005	16118480				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			American journal of nephrology. 2005 Sep-Oct;25(5):434-40	Genetic risk factors of amyloidogenesis in familial Mediterranean fever.		608107	19305	2	2005	 Positive family history for amyloidosis and presence of SAA1 alpha/alpha genotype in M694V/M694V mutation may predispose to amyloidosis by increasing the clinical severity. Therefore, in such children early colchicine treatment might be recommended even if they are asymptomatic.											
130420	Y	amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis, Familial	16	16p13.3	MEFV	3232028	3246628		Dode, C.  et al. 2002	12105243				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Europe	CDC GDPinfo	4210	Hs.632221			Nephrology, dialysis, transplantation. 2002 Jul;17(7):1212-7	Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.		608107	19920	2	2002	 In this series we observed that FMF is the main cause of AA amyloidosis in Sephardic Jews and Turks. MEFV and TNFRSF1A mutations were found in only 6 of 14 Arab patients from the Maghreb. We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s). The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever.	Cohort 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks 										
130422	Y	amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Aganna, E.  et al. 2004	15071491				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Genes and immunity. 2004 Jun;5(4):289-93	Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis		608107	22849	2	2004	Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.	Control:130 healthy controls;Case:61/31 juvenile idiopathic arthritis patients with (n=61) and without (n=31) amyloidosis;Case:67/34 rheumatoid arthritis patients with amyloidosis (n=67) and without amyloidosis (n=34)										
130415		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Tchernitchko, D.  et al. 2005	16255051				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Europe	CDC GDPinfo	4210	Hs.632221			Arthritis and rheumatism. 2005 Nov;52(11):3603-5	MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.		608107	18246	2	2005	 FMF-like syndromes in western European Caucasian populations cannot be explained by MEFV mutations. These results should be helpful in avoiding laborious and costly MEFV molecular analyses that, at the population level, seem to be of poor diagnostic value in the case of western European Caucasian patients, and rather should prompt a search for other causes in those patients.											
130417		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Gershoni-Baruch, R.  et al. 2003	12687559				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Arthritis and rheumatism. 2003 Apr;48(4):1149-55	The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.		608107	19302	2	2003	 Overall, disease severity and the development of amyloidosis in FMF are differentially affected by genetic variations within and outside the MEFV gene.	Cohort 277 FMF patients (154 men and 123 women), including 62 patients with nephropathic amyloidosis 										
130418		amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Medlej-Hashim, M.  et al. 2004	15018633				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			BMC medical genetics [electronic resource]. 2004 Feb;5:4	Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1and MICA polymorphisms effects.		608107	19303	2	2004	 The results suggest a protective effect of the SAA1 beta and gamma alleles on the development of amyloidosis and show the absence of a MICA modifying effect on amyloidosis development. Testing these polymorphisms on a larger sample will lead to more definite conclusions.	Case:30 Familial mediterranean fever patients with:amyloidosis;Control:40 Familial mediterranean fever patients without:amyloidosis										
130411		Familial Mediterranean Fever	IMMUNE	IMM	Joint Diseases|Familial Mediterranean Fever|Fever|Abdominal Pain	16	16p13.3	MEFV	3232028	3246628		Topaloglu, R.  et al. 2004	15458961				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Annals of the rheumatic diseases. 2005 May;64(5):750-2	E148Q is a disease-causing MEFV mutation: aphenotypic evaluation in patients with familial Mediterranean fever.		608107	18242	2	2004	 Patients homozygous for E148Q have a heterogeneous clinical presentation. Most are symptomatic and colchicine treatment is required in these patients.	Cohort 26/10/8 patients homozygous for E148Q (n=26), compound heterozygous for E148Q (n=10) and complex cases (n=8) 										
130413		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Konstantopoulos, K.  et al. 2005	15717684				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Greece	CDC GDPinfo	4210	Hs.632221			International journal of hematology. 2005 Jan;81(1):26-8	Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.		608107	18244	2	2005	Because different populations may exhibit different patterns of pyrin mutations, association of the E148Q mutation with FMF should be considered in connection with origin data.	Control healthy controls;Case:30/30 individuals with a definite FMF diagnosis (n=30) and a probable diagnosis (n=30)										
130414	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Familial Mediterranean Fever|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Imirzalioglu, N.  et al. 2005	15903027				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Scandinavian journal of rheumatology. 2005 ;34(1):56-8	MEFV gene is a probable susceptibility gene for Bechet's disease.		608107	18245	2	2005	 The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Beh??'s disease.	Case:42 Behcet's disease patients who had no symptoms and family history for familial Mediterranean fever;Control:66 healthy controls										
130408	Y	arthritis; Familial Mediterranean Fever	IMMUNE	IMM	Arthritis|Familial Mediterranean Fever|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Olgun, A.  et al. 2004	14727057				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Turkey	CDC GDPinfo	4210	Hs.632221			Rheumatology international. 2005 May;25(4):255-9	MEFV mutations in familial Mediterranean fever:association of M694V homozygosity with arthritis		608107	18239	2	2004	 The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients.	Cohort a group of young male Turkish FMF patients 										
130409	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Vascular Diseases|Familial Mediterranean Fever|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Atagunduz, P.  et al. 2003	14727457				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Turkey	CDC GDPinfo	4210	Hs.632221			Clinical and experimental rheumatology. 2003 Jul-Aug;21(4 Suppl 30):S35-7	MEFV mutations are increased in Behcet's disease (BD) and are associated with vascular involvement		608107	18240	2	2003	 MEFV mutations, originally linked to FMF, may act as a genetic susceptibility factor for other inflammatory disorders such as vascular BD.	Control:controls;Case:57 Behcet's disease patients										
130410	Y	amyloidosis; Familial Mediterranean Fever	OTHER	OTH	Arthritis|Colitis, Ulcerative|Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Atagunduz, M. P.  et al. 2004	15122067				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Nephron Clinical practice [electronic resource]. 2004 ;96(4):c131-5	Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis.		608107	18241	2	2004	 MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. Our results suggest that MEVF mutations may also serve as a severity marker for other inflammatory conditions.	Control:185 non-inflammatory control group (n = 185);Case:37/35/19 FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19)										
130405		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Cazeneuve, C.  et al. 2003	12905488				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Armenia	CDC GDPinfo	4210	Hs.632221			Arthritis and rheumatism. 2003 Aug;48(8):2324-31	Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.		608107	18236	2	2003	 These data illuminate the meaning of negative results of MEFV analyses and show that in all populations evaluated, most patients with the NI/NI genotype had disease that mimicked FMF and was unrelated to the MEFV gene. Our findings also demonstrate the high sensitivity of a search for very few mutations in order to perform a molecular diagnosis of MEFV-related FMF.	Cohort 50 patients who fulfilled the established criteria for FMF Karabakh (near Armenia) 										
130406		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Zaks, N.  et al. 2003	12929299				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			The Israel Medical Association journal. 2003 Aug;5(8):585-8	Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever		608107	18237	2	2003	 Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.	Case:412 Familial Mediterranean fever patients										
130407		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Al-Alami, J. R.  et al. 2003	14578967				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Middle East|Jordan	CDC GDPinfo	4210	Hs.632221			Saudi medical journal. 2003 Oct;24(10):1055-9	Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population.		608107	18238	2	2003	 E148Q has reduced penetrance and thus, a proportion of the individuals genetically affected with FMF remain asymptomatic. M694I and M680I are more prevalent in the affected individuals cohort, which points to their higher penetrance. The overall carrier rate is one in 5, but the selective heterozygote advantage could not be demonstrated in this study due to the relatively small sample size.	Cohort 200 anonymous deoxyribonucleic acid (DNA) samples, representing a healthy adult cohort 1999-2002 Cohort 231/225/176/107 anonymous DNA samples from 4 Arabic countries, namely, Egypt (231), Syria (225), Iraq (176) and the Kingdom of Saudi Arabia (107) Egypt, Syria/Iraq and Saudi Arabia 1999-2002 ;Case:29 Familial Mediterranean Fever probands from 29 unrelated sibships:1999-2002										
130402		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Deltas, C. C.  et al. 2002	12180071				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Greek	Greece|Cyprus	CDC GDPinfo	4210	Hs.632221			Genetic testing. 2002 ;6(1):15-21	Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus		608107	18233	2	2002	Our study indicates that FMF is not a rare condition in Cyprus and that, because of the significant morbidity associated with this disorder, which is often diagnosed only after unnecessary surgeries, a newborn screening program to detect affected in this population may be warranted.	Cohort Greek-Cypriot population sample Greece 										
130403	N	Familial Mediterranean Fever	IMMUNE	IMM	Kidney Diseases|Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Balci, B.  et al. 2002	12401847				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Nephrology, dialysis, transplantation. 2002 Nov;17(11):1921-3	MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological andmolecular study.		608107	18234	2	2002	 In phenotype II amyloidosis patients, the distribution of the four common MEFV mutations was not significantly different from that found in all FMF patients with typical symptoms who do or do not develop amyloidosis. We therefore suggest that secondary genetic or environmental factors are operative in the development of secondary amyloidosis in patients with FMF.	Cohort a group of patients clinically designated as phenotype II amyloidosis patients 										
130404	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Familial Mediterranean Fever|Disease Progression	16	16p13.3	MEFV	3232028	3246628		Shinar, Y.  et al. 2003	12700594				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Jewish		CDC GDPinfo	4210	Hs.632221			Genes and immunity. 2003 Apr;4(3):197-203	Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients.		608107	18235	2	2003	In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses.	Cohort patients with relapsing-remitting multiple sclerosis of Ashkenazi and non-Ashkenazi origin 										
130399		amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Kogan, A.  et al. 2001	11484206				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Jewish	Morocco|Iraq|Israel	CDC GDPinfo	4210	Hs.632221			American journal of medical genetics. 2001 Aug;102(3):272-6	Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype IIIstates and absence of a perceptible biological advantage for the carrier state.		608107	18230	2	2001	These results affirm the high carrier rate among the studied Jewish ethnic groups in Israel and suggest that most subjects with FMF mutations are unaffected. Copyright 2001 Wiley-Liss, Inc.	Cohort 521 individuals from different Jewish ethnic groups (300 Ashkenazi, 101 Iraqi, and 120 Moroccan Jews) Israel 										
130400	Y	IgD	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Medlej-Hashim, M.  et al. 2001	11781702				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			European journal of human genetics. 2001 Nov;9(11):849-54	Familial Mediterranean Fever: association ofelevated IgD plasma levels with specific MEFV mutations.		608107	18231	2	2001	Elevated IgD plasma levels are also correlated with the severity of FMF manifestations, and especially with arthritis.	Cohort 148 Lebanese and Jordanian FMF patients 										
130401	Y	Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Majeed, H. A.  et al. 2002	12077709				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Jordan	CDC GDPinfo	4210	Hs.632221			Seminars in arthritis and rheumatism. 2002 Jun;31(6):371-6	Genotype/phenotype correlations in Arab patients with familial Mediterranean fever.		608107	18232	2	2002	 The genotypes M694V/M694V and M694V/V726A have a severe clinical course in Arab patients with FMF, whereas the M694I/M694I is associated with mild disease.	Cohort 50 patients with familial Mediterranean fever Jordan 										
130396	Y	amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628	0.001	Mansour I et al. 2001	11175300	M694V and M694I			Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Lebanon	KGB	4210	Hs.632221			European journal of human genetics. 2001 Jan;9(1):51-5	Familial Mediterranean fever in Lebanon: mutation spectrum evidence for cases in Maronites Greek orthodoxes Greek catholics Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.		608107	4492	1	2001	The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I).											
130397	N	amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Akar, E.  et al. 2001	11139244				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Turkey	CDC GDPinfo	4210	Hs.632221			Human mutation. 2001 ;17(1):71	Is the Ala138Gly alteration of MEFV gene important for amyloidosis?		608107	18228	2	2001	There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9). However, when	Case:124 familial Mediterranean fever patients, of which 47 had amyloidosis.;Control:81 individuals without any familial history of FMF										
130398		amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Mansour, I.  et al. 2001	11175300				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Lebanon	CDC GDPinfo	4210	Hs.632221			European journal of human genetics. 2001 Jan;9(1):51-5	Familial Mediterranean fever in Lebanon: mutationspectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.		608107	18229	2	2001	The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). None of the patients carrying other mutations developed amyloidosis.	Cohort 79 unrelated Lebanese patients with famial Mediterranean fever Lebanon 										
130393		familial Mediterranean fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Zaks N 2003	12929299				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			KGB	4210	Hs.632221			The Israel Medical Association journal. 2003 Aug;5(8):585-8	Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.		608107	4489	1	2003	 Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.	Case:412 Familial Mediterranean fever patients										
130394		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Cazeneuve C 2003	12905488				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	unknown	Armenia	KGB	4210	Hs.632221			Arthritis and rheumatism. 2003 Aug;48(8):2324-31	Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.		608107	4490	1	2003	 These data illuminate the meaning of negative results of MEFV analyses and show that in all populations evaluated, most patients with the NI/NI genotype had disease that mimicked FMF and was unrelated to the MEFV gene. Our findings also demonstrate the high sensitivity of a search for very few mutations in order to perform a molecular diagnosis of MEFV-related FMF.	Cohort 50 patients who fulfilled the established criteria for FMF Karabakh (near Armenia)										
130395	Y	secondary and FMF amyloidosis.	OTHER	OTH	Arthritis|Colitis, Ulcerative|Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Atagunduz MP 2004	15122067				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			KGB	4210	Hs.632221			Nephron Clinical practice [electronic resource]. 2004 ;96(4):c131-5	Association of FMF-related (MEFV) point mutations with secondary and FMF amyloidosis.		608107	4491	1	2004	 MEFV mutations are found to be increased both in FMF and non-FMF associated secondary amyloidosis in our study; however, no clear association between M694V and amyloidosis is observed, except in the non-FMF group. Our results suggest that MEVF mutations may also serve as a severity marker for other inflammatory conditions.	Control:185 non-inflammatory control group (n = 185);Case:37/35/19 FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19)										
130389		schizophrenia; mental retardation	PSYCH	PSY	Mental Retardation|Schizophrenia	X	Xq13	MED12	70255130	70279029		Hung, C. C.  et al. 2003	12860370				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1	Chinese	China|Taiwan	CDC GDPinfo	9968	Hs.409226			Psychiatry research. 2003 Jul;119(2-Jan):163-6	No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan.		300188	18222	2	2003	Our results indicate that the HOPA polymorphism might be very rare in our population and is unlikely to be a major risk factor for mental retardation and schizophrenia in the Chinese population.	Cohort Chinese mental retardation and schizophrenic patients taiwan 										
130390	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Familial Mediterranean Fever|Disease Progression	16	16p13.3	MEFV	3232028	3246628	P=0.007	Shinar Y 2003	12700594	M694V		coding sequence	Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	non-Ashkenazi Jewish		KGB	4210	Hs.632221	rapid progression to disability		Genes and immunity. 2003 Apr;4(3):197-203	Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients.		608107	4486	1	2003	In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses.	Cohort patients with relapsing-remitting multiple sclerosis of Ashkenazi and non-Ashkenazi origin										
130391	Y	familial mediterranean fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Shohat M et al. 1998	9851884				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			KGB	4210	Hs.632221	Amyloidosis		Molecular genetics and metabolism. 1998 Nov;65(3):197-202	Amyloidosis in familial mediterranean fever is associated with a specific ancestral haplotype in the MEFV locus.		608107	4487	1	1998												
130386		schizophrenia; manic depression	PSYCH	PSY	Bipolar Disorder|Schizophrenia	X	Xq13	MED12	70255130	70279029		Kirov, G.  et al. 2003	12627458	HOPA12bp			Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			CDC GDPinfo	9968	Hs.409226			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):16-9	Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness.		300188	12352	2	2003	We conclude that  the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia.	Case:178/367 British unrelated bipolar cases (n=178) and schizophrenic cases (n=367);Control:188/368 blood donors used as controls for bipolar cases (n=188) and blood donors used as controls for schizophrenic cases (n=368)										
130387	Y	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq13	MED12	70255130	70279029		Spinks, R.  et al. 2004	15108174	HOPA12bp			Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			CDC GDPinfo	9968	Hs.409226			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):20-7	Association of the HOPA12bp allele with a large X-chromosome haplotype and positive symptom schizophrenia.		300188	12353	2	2004	Taken together, these findings further refine the behavioral endophenotype associated with the HOPA(12bp) allele and suggest that the sequence surrounding HOPA may need to be considered to fully understand the molecular basis of the phenotype associated with the HOPA(12bp) allele.	Cohort 180 schizophrenic probands 										
130388		autism	PSYCH	PSY	Autistic Disorder	X	Xq13	MED12	70255130	70279029		Beyer, K. S.  et al. 2002	11840515				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			CDC GDPinfo	9968	Hs.409226			American journal of medical genetics. 2002 Jan;114(1):110-5	Association studies of the HOPA dodecamer duplication variant in different subtypes of autism.		300188	18221	2	2002	The allele frequency of the duplication variant was not significantly different between autistic patients, their parents, and the control group. Therefore, it is unlikely that this 12 bp duplication variant of the HOPA gene has major relevance to the susceptibility to different subtypes of autism at least in this German patient sample	Case:155 German autistic patients and 278 of their parents;Control:157 control individuals										
130383	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	X	Xq13	MED12	70255130	70279029	n	Kirov G et al. 2003	12627458			coding sequence	mediator of RNA polymerase II transcription, subunit 12 homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1	several		KGB	9968	Hs.409226			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):16-9	Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness.		300188	6649	1	2003	We conclude that  the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia.											
130384		schizophrenia; hypothyroidism	PSYCH	PSY	Hypothyroidism|Schizophrenia	X	Xq13	MED12	70255130	70279029		Philibert, R. A.  et al. 2001	11424983				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			CDC GDPinfo	9968	Hs.409226			American journal of medical genetics. 2001 Jan;105(1):130-4	Population-based association analyses of the HOPA12bp polymorphism for schizophrenia and hypothyroidism.		300188	12350	2	2001	We conclude that  the HOPA12bp polymorphism shows a nominally significant association with schizophrenia and a nominal trend for association with hypothyroidism in our study and that further studies are required to define the features of this syndrome and the molecular mechanisms of disease pathogenesis.	Control random newborn controls;Case:173 schizophrenic probands (128 males and 45 females):Iowa										
130385	Y	depressive disorder, major; phobia	PSYCH	PSY	Hypothyroidism|Genetic Predisposition to Disease|Anxiety Disorders|Phobic Disorders|Depressive Disorder	X	Xq13	MED12	70255130	70279029		Philibert, R.  et al. 2002	12216017				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			CDC GDPinfo	9968	Hs.409226			Comprehensive psychiatry. 2002 Sep-Oct;43(5):404-10	The association of a HOPA polymorphism with major depression and phobia		300188	12351	2	2002	We conclude that  HOPA polymorphisms may be a moderate risk factor for increased susceptibility to a broad spectrum of neuropsychiatric illness and hypothesize that the type of illness manifested might be related to a separate genetic diathesis.	Control:44 adoptees matched to high-risk individuals on the basis of age, sex, agency and age of biologic:mother;Case:68 psychopathologic adoptees separated at birth from biologic parents										
130379		Rett syndrome	NEUROLOGICAL	NEUR	Epilepsy|Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Charman, T.  et al. 2005	16077736				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			European journal of human genetics. 2005 Oct;13(10):1121-30	Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.		300005	18219	2	2005												
130380		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome|Chromosome Aberrations	X	Xq28	MECP2	152940457	153055772		Archer, H. L.  et al. 2005	16183801				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			Journal of medical genetics. 2005	Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome.		300005	18220	2	2005												
130381	Y	major depression	PSYCH	PSY	Hypothyroidism|Genetic Predisposition to Disease|Anxiety Disorders|Phobic Disorders|Depressive Disorder	X	Xq13	MED12	70255130	70279029		Philibert R et al. 2002	12216017				mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			KGB	9968	Hs.409226			Comprehensive psychiatry. 2002 Sep-Oct;43(5):404-10	The association of a HOPA polymorphism with major depression and phobia.		300188	6647	1	2002	We conclude that  HOPA polymorphisms may be a moderate risk factor for increased susceptibility to a broad spectrum of neuropsychiatric illness and hypothesize that the type of illness manifested might be related to a separate genetic diathesis.											
130375	N	mental disorder	DEVELOPMENTAL	DEV	Mental Retardation	X	Xq28	MECP2	152940457	153055772		Ylisaukko-Oja, T.  et al. 2004	15578581				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			American journal of medical genetics Part A. 2005 Jan;132(2):121-4	MECP2 mutation analysis in patients with mental retardation.		300005	18215	2	2004	We conclude that  the evidence across all the mutation screening studies implies that MECP2 mutations do not represent a major cause of nonspecific MR.	Cohort 118 mental retardation patients (103 males, 15 females) 										
130376		Rett syndrome	NEUROLOGICAL	NEUR	Microcephaly|Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Miura, K.  et al. 2005	15675358				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			No to hattatsu Brain and development. 2005 Jan;37(1):39-45	[Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]		300005	18216	2	2005	Patients with the same mutations showed different phenotypes. Patients with R133C and R306C presented a mild phenotype without microcephaly. Of the proposed diagnostic criteria, the following three	Cohort 27 patients with Rett syndrome (aged 2 to 37 years) 										
130378		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Jian, L.  et al. 2005	16077729				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2		Australia|Great Britain	CDC GDPinfo	4204	Hs.200716			European journal of human genetics. 2005 Nov;13(11):1235-8	p.R270X MECP2 mutation and mortality in Rett syndrome.		300005	18218	2	2005												
130372		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Kleefstra, T.  et al. 2003	14560307				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			European journal of human genetics. 2004 Jan;12(1):24-8	MECP2 analysis in mentally retarded patients:implications for routine DNA diagnostics.		300005	18212	2	2003	The results support testing of patients with features suggestive of Angelman syndrome, but without methylation defects on chromosome 15q11-q13 for mutations in MECP2. In the remaining patients with unexplained mental retardation, additional clinical features should determine whether analysis of MECP2 is indicated.	Cohort mentally retarded female patients who were negative for FMR1 CGG repeat expansion, in male and female patients with clinical features suggestive of either Angelman or Prader-Willi syndrome without methylation defects on chromosome 15q11-q13 										
130373		schizophrenia; autism	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Autistic Disorder|Schizophrenia	X	Xq28	MECP2	152940457	153055772		Shibayama, A.  et al. 2004	15211631				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):50-3	MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism		300005	18213	2	2004	These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study.	Cohort 214 patients, including 106 with schizophrenia, 24 with autism, and 84 patients with other psychiatric diseases 										
130374	N	Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Evans, J. C.  et al. 2005	15367913			promoter	Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			European journal of human genetics. 2005 Jan;13(1):124-6	Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.		300005	18214	2	2005	Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.	Control:controls;Case:97 mutation-negative Rett syndrome cases										
130369		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Bienvenu, T.  et al. 2002	12180070				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2		France	CDC GDPinfo	4204	Hs.200716			Genetic testing. 2002 ;6(1):6-Jan	Spectrum of MECP2 mutations in Rett syndrome		300005	18209	2	2002	These data demonstrate the high allelic heterogeneity of RTT in France and provide information relevant to the development of strategies for molecular diagnosis and genetic counseling in RTT families.	Cohort samples from four laboratories in France France 										
130370	N	autism	PSYCH	PSY	Autistic Disorder	X	Xq28	MECP2	152940457	153055772		Lobo-Menendez, F.  et al. 2003	12555243				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):97-101	Absence of MeCP2 mutations in patients from the South Carolina autism project.		300005	18210	2	2003	The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism.	Cohort 99 patients from the South Carolina autism project 										
130371		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Huppke, P.  et al. 2003	12640384				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			The Journal of pediatrics. 2003 Mar;142(3):332-5	Indication for genetic testing: a checklist forRett syndrome.		300005	18211	2	2003	 This checklist provides a simple aid for deciding whether or not a genetic test for RTT should be performed with only a minimal risk of missing girls with MECP2-positive results.	Control:49 girls with either Rett syndrome or features of Rett syndrome who had negative test results for mutations in the MECP2 gene;Case:49 girls who had positive test results										
130366		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Kondo, I.  et al. 2002	12030010				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			No to hattatsu Brain and development. 2002 May;34(3):219-23	[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome]		300005	18206	2	2002	These results suggest a genotype-phenotype correlation RTT. However, a large scale study of adult RTT patients is required to determine more precisely the influence of MECP2 mutation types on the natural history and clinical phenotypes of RTT.	Case:142 Japanese sporadic patients diagnosed clinically as having Rett syndrome										
130367		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Huppke, P.  et al. 2002	12075485				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			Neuropediatrics. 2002 Apr;33(2):63-8	Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.		300005	18207	2	2002	We conclude that  mutation type and location correlate with the phenotype in Rett syndrome. All mutations that impair the nuclear localisation signal (NLS) are associated with more severe phenotypes.	Cohort 123 girls with Rett syndrome 										
130368		x-linked mental retardation	OTHER	OTH	Mental Retardation	X	Xq28	MECP2	152940457	153055772		Yntema, H. G.  et al. 2002	12111644				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2		Netherlands	CDC GDPinfo	4204	Hs.200716			European journal of human genetics. 2002 Aug;10(8):487-90	Low frequency of MECP2 mutations in mentally retarded males.		300005	18208	2	2002	The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475).	Cohort 475 mentally retarded males who were negative for FMR1 CGG repeat expansion 										
130362		epilepsy, idiopathic generalized	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	18	6p25-p24	ME2	46659432	46728258		Lenzen, K. P.  et al. 2005	16190936				Malic enzyme 2, NAD(+)-dependent, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002396.3		Germany	CDC GDPinfo	4200	Hs.233119			Epilepsia. 2005 Oct;46(10):1637-41	Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.		154270	12348	2	2005	 These results do not support previous evidence that genetic variation of the ME2 gene predisposes to common IGE syndromes. Thus if a recessively inherited ME2 mutation is present, then the size of the epileptogenic effect might be too small or not frequent enough to detect it in the present IGE sample.											
130363			OTHER	OTH	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Kudo S 2003	12843318				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			KGB	4204	Hs.200716			Journal of medical genetics. 2003 Jul;40(7):487-93	Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.		300005	4485	1	2003												
130364		mental disorder	DEVELOPMENTAL	DEV	Mental Retardation	X	Xq28	MECP2	152940457	153055772		Bourdon, V.  et al. 2003	14529314				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			Molecular diagnosis. 2003 ;7(1):7-Mar	MECP2 Mutations or Polymorphisms in Mentally Retarded Boys : Diagnostic Implications		300005	12349	2	2003	 These results confirm that MECP2 mutations in males are far more rare than initially thought and call for a careful evaluation of the pathogenicity of the MECP2 missense mutations identified in mentally retarded males before genetic counseling is proposed to the relatives.	Cohort 354 mentally retarded males found negative for an expansion across the FRAXA CGG repeat 										
130359		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Hu, Z.  et al. 2005	16152608			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Chinese		CDC GDPinfo	4193	Hs.567303			International journal of cancer. Journal international du cancer. 2006 Mar;118(5):1275-8	Genetic variants in the MDM2 promoter and lung cancer risk in a Chinese population.		164785	18204	2	2005												
130360		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	12	12q14.3-q15	MDM2	67488246	67520481		Zee, R. Y.  et al. 2002	12082592				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		164785	28657	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
130361		lung cancer	CANCER	CAN	Lung Neoplasms	6	6q12	ME1	83976828	84197498		Zhou, W.  et al. 2001	11352855				Malic enzyme 1, NADP(+)-dependent, cytosolic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002395.2			CDC GDPinfo	4199	Hs.21160			Cancer epidemiology, biomarkers & prevention. 2001 May;10(5):461-6	The interaction between microsomal epoxide hydrolase polymorphisms and cumulative cigarette smoking in different histological subtypes of lung cancer.		154250	12347	2	2001	cumulative cigarette smoking plays a pivotal role in the association between mEH polymorphisms and lung cancer risk, altering the direction of risk (in the case of the very low activity genotype) from a risk factor in nonsmokers to a relatively protective factor in heavy smokers.	Control:1142 friends or spouses of the cases or friends or spouses of other cardiothoracic-surgery patients in the hospital with no specific matching:characteristics;Case:974 Caucasian lung cancer patients	smoking (tobacco)									
130355	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Campbell, I. G.  et al. 2005	16239061	SNP309			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			Cancer letters. 2005	No association of the MDM2 SNP309 polymorphism with risk of breast or ovarian cancer.		164785	12343	2	2005												
130356		Li-Fraumeni Syndrome	CANCER	CAN	Li-Fraumeni Syndrome|Disease Progression|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Bougeard, G.  et al. 2005	16258005	SNP309			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			Journal of medical genetics. 2005	Impact of the MDM2 SNP309 and TP53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.		164785	12344	2	2005				MDM2	SNP309	TP53	72Arg			Y		Age of tumour onset in Li-Fraumeni syndrome
130357	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Zhang, X.  et al. 2005	16287156				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			Human mutation. 2006 Jan;27(1):110-7	Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.		164785	12345	2	2005			smoking (tobacco)									
130358		breast cancer	CANCER	CAN	Breast Diseases|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Ma, H.  et al. 2005	16288830			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			Cancer letters. 2005	Polymorphisms in the MDM2 promoter and risk of breast cancer: a case-control analysis in a Chinesepopulation.		164785	12346	2	2005												
130351		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11p11.2	MDK	46359193	46361951		Ahmed, K. M.  et al. 2002	12175547			intron	Midkine (neurite growth-promoting factor 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012334.1	Japanese		CDC GDPinfo	4192	Hs.82045			Cancer letters. 2002 Jun;180(2):159-63	Association of an intronic polymorphism in the midkine (MK) gene with human sporadic colorectal cancer.		162096	12340	2	2002	Therefore, this genotype could represent a risk factor for tumorigenesis in the colon and rectum of Japanese.	Control:86 unaffected control specimens;Case:98/60/59/32/37 98 colorectal, 60 gastric, 59 esophagus, 32 lung and 37 breast cancer tissue specimens and their corresponding non-neoplastic tissues										
130352		adipose-tissue tumors	CANCER	CAN	Lipoma|Liposarcoma|Osteosarcoma|Histiocytoma, Benign Fibrous|Sarcoma|Bone Neoplasms|Soft Tissue Neoplasms|Disease Progression	12	12q14.3-q15	MDM2	67488246	67520481		Nakayama T et al. 1995	7591308				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			KGB	4193	Hs.567303	tumor progression		International journal of cancer. Journal international du cancer. 1995 Oct;64(5):342-6	MDM2 gene amplification in bone and soft-tissue tumors: association with tumor progression in differentiated adipose-tissue tumors.		164785	4484	1	1995												
130354		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Hong, Y.  et al. 2005	16230424				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDPinfo	4193	Hs.567303			Cancer research. 2005 Oct;65(20):9582-7	The role of P53 and MDM2 polymorphisms in the risk of esophageal squamous cell carcinoma.		164785	12342	2	2005			smoking (tobacco)	P53	Pro/Pro	MDM2	GG			Y	Tobacco smokers	Esophageal squamous cell carcinoma
130348		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Vasculitis, Allergic Cutaneous|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Susceptibility	1	1q32	CD46	205992024	206035481		Aguilar, F.  et al. 2001	11844145			promoter	Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)		Spanish	Spain	CDC GDPinfo	4179	Hs.510402			Tissue antigens. 2001 Nov;58(5):335-8	MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus.		120920	12339	2	2001	These results indicate an association between the presence of G at position [minus sign]2518 in the MCP-1 promoter region and the presence of cutaneous vasculitis among patients with SLE. This polymorphism does not seem to influence the susceptibility to SLE nor the appearance of lupus nephritis. Further studies are necessary in order to elucidate the role of this polymorphism in the pathogenesis of other inflammatory autoimmune diseases.	Case:1276 SLE patients (among them, 99 with lupus nephritis and 55 with cutaneous vasculitis);Control:194 ethnically matched healthy controls										
130349		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1q32	MCP	204329070	204332100		Wang, Z. C.  et al. 2005	16253969				Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537451			CDC GDPinfo	4179	Hs.510402			Human reproduction (Oxford, England). 2005	Maternal CD46H*2 and IL1B-511*1 homozygosity in T helper 1-type immunity to trophoblast antigens in recurrent pregnancy loss.		120920	22846	2	2005	 The combination of homozygosity for both IL1B-511*1 and CD46H*2 alleles is a high risk factor for RPL-Th1(+).											
130350	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11p11.2	MDK	46359193	46361951		Ahmed KM et al. 2002	12175547			intron	midkine (neurite growth-promoting factor 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR590366			KGB	4192	Hs.82045			Cancer letters. 2002 Jun;180(2):159-63	Association of an intronic polymorphism in the midkine (MK) gene with human sporadic colorectal cancer.		300011	4483	1	2002												
130344		obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Dubern, B.  et al. 2001	11487744				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			The Journal of pediatrics. 2001 Aug;139(2):204-9	Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children		155541	25223	2	2001	 MC4R mutations may be a non-negligible cause of severe obesity in children with variable expression and penetrance. Mutations in AGRP and alpha MSH genes were not among the causes of obesity in our population.	Control:283 non-obese subjects;Case:63 severely obses children										
130346	N	obesity; energy expenditure	METABOLIC	MET	Acne Vulgaris|Sebaceous Gland Diseases	18	18p11.2	MC5R	13815764	13816742		Hatta, N.  et al. 2001	11286624				Melanocortin 5 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005913.1			CDC GDPinfo	4161	Hs.248145			The Journal of investigative dermatology. 2001 Apr;116(4):564-70	Expression, candidate gene, and population studies of the melanocortin 5 receptor		600042	18199	2	2001	We have therefore found no evidence of a causative role for melanocortin 5 receptor in sebaceous gland dysfunction, and in the absence of any association between variation at the locus and disease group, the pathophysiologic role of the melanocortin 5 receptor in man requires further study.	Cohort a range of human populations 										
130347	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	18	18p11.2	MC5R	13815764	13816742			16314755				Melanocortin 5 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005913.1			CDC GDPinfo	4161	Hs.248145			Psychiatric genetics. 2005 Dec;15(4):255-8	Lack of association between variations in the melanocortin 5 receptor gene and bipolar disorder		600042	18200	2	2005	 Variations in the melanocortin 5 receptor gene are unlikely to confer susceptibility to bipolar disorder in this sample. Further studies are required to elucidate the susceptibility locus for bipolar disorder on chromosome 18p11.											
130340	Y	triglycerides	METABOLIC	MET	Coronary Artery Disease	18	18q22	MC4R	56189543	56190981		Bronner, G.  et al. 2005	16278267				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2006 Feb;91(2):535-8	The 103I variant of the melanocortin 4 receptor (MC4R) is associated with low serum triglyceride levels.		155541	18198	2	2005												
130342	Y	binge eating	PSYCH	PSY	Obesity|Bulimia	18	18q22	MC4R	56189543	56190981		Branson, R.  et al. 2003	12646666				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			The New England journal of medicine. 2003 Mar;348(12):1096-103	Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.		155541	22844	2	2003	 Binge eating is a major phenotypic characteristic of subjects with a mutation in MC4R, a candidate gene for the control of eating behavior.	Control:15/10 women (n=15) and men (n=10) without a history of dieting or a family history of obesity served as normal-weight controls;Case:469 severely obese white subjects										
130343	Y	obesity; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Obesity, Morbid|Weight Loss|Bulimia	18	18q22	MC4R	56189543	56190981		Potoczna, N.  et al. 2004	15585384				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Journal of gastrointestinal surgery. 2004 Dec;8(8):971-81; discussion 981-2	Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity.		155541	22845	2	2004	MC4R variants influence comorbidities and treatment outcomes in severe obesity.	Cohort 300 patients (233 women and 67 men; mean +/- SEM age, 42 +/- 1 years; mean +/- SEM body mass index, 43.5 +/- 0.3 kg/m(2)) undergoing laparoscopic gastric banding 										
130337	Y	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Larsen, L. H.  et al. 2004	15486053				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2005 Jan;90(1):219-24	Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.		155541	18195	2	2004	This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a population-based study of obese men. Thus, variation in this gene is the most common known specific genetic cause of obesity among Scandinavian men.	Control:706 control subjects;Case:750 Danish men with juvenile-onset obesity:Denmark										
130338		hyperandrogenism; precocious puberty	METABOLIC	MET	Puberty, Precocious|Hyperandrogenism	18	18q22	MC4R	56189543	56190981		Roldan Martin, M. B.  et al. 2004	15533382				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Fertility and sterility. 2004 Nov;82(5):1460-2	Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism.		155541	18196	2	2004	DNA sequence analysis of the conformers identified by SSCP revealed variants in six patients (two silent and one missense) and in none of the control subjects.	Case:75/53 children (69 girls/six boys) with premature pubarche (n=75) and adolescent girls with:hyperandrogenism (n=53);Control:95 healthy adult control subjects										
130339		obesity	METABOLIC	MET	Obesity, Morbid|Genetic Predisposition to Disease	18	18q22	MC4R	56189543	56190981		Beckers, S.  et al. 2005	16231025				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			International journal of obesity (2005). 2006 Feb;30(2):221-5	Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.		155541	18197	2	2005												
130332	N	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Lubrano-Berthelier, C.  et al. 2003	14633862			promoter	Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Diabetes. 2003 Dec;52(12):2996-3000	The human MC4R promoter: characterization and rolein obesity.		155541	18190	2	2003	Systematic screening of 431 obese children and adults for mutations in the coding sequence and the minimal core promoter of MC4R reveals that genetic variation in the transcriptionally essential region of the MC4R promoter is not a significant cause of severe obesity in humans.	Cohort 431 obese children and adults 										
130333	Y	obesity	METABOLIC	MET	Obesity, Morbid	18	18q22	MC4R	56189543	56190981		Valli-Jaakola, K.  et al. 2004	14764818				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Finnish	Finland	CDC GDPinfo	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):940-5	Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.		155541	18191	2	2004	IY coYclusioY, a pathogeYic MC4R mutatioY was fouYd amoYg subjects with severe early-oYset obesity but Yot amoYg morbidly obese adults. Impaired fuYctioY of the S127L receptor was due to reduced activatioY, Yot a defect of proteiY traYsport to the cell membraYe.	Cohort 252/56 morbidly obese adults (n=252) and children with severe early-onset obesity (n=56) 										
130335	N	binge eating	PSYCH	PSY	Obesity|Bulimia	18	18q22	MC4R	56189543	56190981		Hebebrand, J.  et al. 2004	15037865				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Molecular psychiatry. 2004 Aug;9(8):796-800	Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.		155541	18193	2	2004	Our findings do not support the strong association between BED and MC4R carrier status.	Cohort 43 obese probands 										
130329	N	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Jacobson, P.  et al. 2002	12364415				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1		Tennessee|Sweden	CDC GDPinfo	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2002 Oct;87(10):4442-6	Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish ObeseSubjects, the HERITAGE Family Study, and a Memphis cohort.		155541	18187	2	2002	In conclusion, our results do not support the prevailing notion that sequence variation in the melanocortin 4 receptor gene is a frequent cause of human obesity.	Case severely obese subjects from the Swedish Obese Subjects study, the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family study, and a Memphis cohort;Control normal-weight subjects from the Swedish Obese Subjects study, the Health, Risk Factors, Exercise Training, and Genetics (HERITAGE) Family study, and a Memphis cohort										
130330	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	18	18q22	MC4R	56189543	56190981		Marti, A.  et al. 2003	12629567				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Spanish		CDC GDPinfo	4160	Hs.532833			International journal of obesity and related metabolic disorders. 2003 Mar;27(3):385-8	A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.		155541	18188	2	2003	 We have identified a novel nonsense mutation (Trp-16-Stop) that, based on previously described frameshift and nonsense mutations, most likely results in dominantly inherited obesity. Within this Spanish population, the frequency of the Ile-251-Leu polymorphism of the MC4R was similar in obese and control subjects (about 1.3%), while the polymorphism Val-103-Ile was only detected in an obese individual (0.6%).	Control:154 normal weight control subjects;Case:159 Spanish obese subjects										
130331	Y	obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	18	18q22	MC4R	56189543	56190981		Hinney, A.  et al. 2003	12970296				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2003 Sep;88(9):4258-67	Melanocortin-4 receptor gene: case-control studyand transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.		155541	18189	2	2003	These results support the hypothesis that these MC4R mutations represent major gene effects for obesity.	Control:327 underweight and normal-weight controls;Case:808 extremely obese children and adolescents										
130326	Y	obesity; cortisol	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Rosmond, R.  et al. 2001	11692184				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Diabetologia. 2001 Oct;44(10):1335-8	A missense mutation in the human melanocortin-4 receptor gene in relation to abdominal obesity and salivary cortisol		155541	18184	2	2001	These findings suggest that the missense mutation in the MC4R gene could contribute to the variability in body mass, abdominal fat distribution and leptin concentrations in the general population. Moreover, the G/A mutation exhibits evidence of associations with diurnal	Cohort 284 unrelated Swedish men born in 1944 										
130327		obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Miraglia Del Giudice, E.  et al. 2002	12032748				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Italian	Italy	CDC GDPinfo	4160	Hs.532833			International journal of obesity and related metabolic disorders. 2002 May;26(5):647-51	Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.		155541	18185	2	2002	 Our data show MC4R obesity causing mutations in less than 0.5% of the patients (ie 1 out of 208 patients) and therefore indicate a low prevalence of MC4R variants in the obese population from southern Italy. The specific genetic background of the Mediterranean population could make it difficult for MC4R mutations to produce an essentially polygenic trait such as common obesity, at least during childhood.	Cohort 208 unrelated obese children and adolescents with average age at obesity onset was 4.5+/-2.6 y southern Italy 										
130328		obesity; bulimia nervosa	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Bulimia	18	18q22	MC4R	56189543	56190981		Hebebrand, J.  et al. 2002	12140789				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Molecular psychiatry. 2002 ;7(6):647-51	Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4receptor gene.		155541	18186	2	2002	Our findings suggest that overweight is a risk factor for BN in clinically ascertained patients. For the first time a genotype predisposing to obesity has been detected in an extremely obese patient with BN.	Cohort 81 female inpatients treated for bulimia nervosa 										
130323	Y	obesity; energy expenditure	METABOLIC	MET	Insulin Resistance|Weight Gain	18	18q22	MC4R	56189543	56190981		Rutanen, J.  et al. 2004	15292469				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1		Finland	CDC GDPinfo	4160	Hs.532833			Obesity research. 2004 Jul;12(7):1060-6	The Val103Ile polymorphism of melanocortin-4 receptor regulates energy expenditure and weight gain.		155541	12336	2	2004	The Val103Ile polymorphism of the MC4R gene is associated with energy expenditure in humans. Furthermore, it may associate with glucose oxidation, free fatty acid levels, and weight gain.	Cohort 229/1,013 middle-aged nondiabetic subjects (n=229, age 51.2 +/- 9.8 years, BMI 26.8 +/- 4.5 kg/m(2)) and on weight gain in 1013 elderly subjects (n=1,013, age 69.9+/- 2.9 years, BMI 27.4 +/- 4.1 kg/m(2)) 										
130324	Y	body mass; obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Heid, I. M.  et al. 2005	15805150				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Journal of medical genetics. 2005 Apr;42(4):e21	Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys.		155541	12337	2	2005	 Our study confirms previous findings of a meta-analysis that the relatively infrequent G/A genotype of the V103I MC4R polymorphism is negatively associated with above average weight and obesity in population based original data of 7937 participants, and extends previous findings by showing for the first time a significantly lower BMI in individuals carrying the infrequent allele of this MC4R variant.											
130325		body mass; cholesterol; hypertension; glucose tolerance; insulin; blood pressure, arterial	METABOLIC	MET	Cardiovascular Diseases|Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X|Hypercholesterolemia|Hypertriglyceridemia|Obesity	18	18q22	MC4R	56189543	56190981		Zakel, U. A.  et al. 2005	16032553				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			Klin Padiatr. 2005 Jul-Aug;217(4):244-9	[Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population]		155541	12338	2	2005	 We detected MC4R mutations (Thr112Met, Ala175Thr and Gly181Asp) in 3.3 % and MC4R polymorphisms (Val103Ile, Ile251Leu) in 5.5 % of the analysed obese children and adolescents, respectively. The patients with MC4R mutations did not show a higher metabolic risk compared to obese children and adolescents without mutations. However the total study group is prone to an increased risk for developing metabolic and cardiovascular diseases.											
130319	Y	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Tao YX 2003	12959994				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			KGB	4160	Hs.532833	childhood obesity		Endocrinology. 2003 Oct;144(10):4544-51	Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.		155541	4477	1	2003												
130320	N	obesity	METABOLIC	MET	Obesity, Morbid	18	18q22	MC4R	56189543	56190981	n	Gotoda T et al. 1997	9267995				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			KGB	4160	Hs.532833			Diabetologia. 1997 Aug;40(8):976-9	Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity plasma glucose or insulin.		155541	4478	1	1997												
130321		obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Hinney A et al. 1999	10199800				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			KGB	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 1999 Apr;84(4):1483-6	Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.		155541	4479	1	1999												
130322	Y	obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	18	18q22	MC4R	56189543	56190981		Hinney A 2003	12970296				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			KGB	4160	Hs.532833			The Journal of clinical endocrinology and metabolism. 2003 Sep;88(9):4258-67	Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.		155541	4480	1	2003	These results support the hypothesis that these MC4R mutations represent major gene effects for obesity.	Control:327 underweight and normal-weight controls;Case:808 extremely obese children and adolescents										
130316		insulin; obesity; leptin	METABOLIC	MET	Hyperinsulinism|Obesity	20	20q13.2-q13.3	MC3R	54257195	54258278		Yiannakouris, N.  et al. 2004	15636422				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2	Greek	Greece	CDC GDPinfo	4159	Hs.248018			Journal of endocrinological investigation. 2004 Sep;27(8):714-20	The Val81 missense mutation of the melanocortin 3 receptor gene, but not the 1908c/T nucleotide polymorphism in lamin A/C gene, is associated with hyperleptinemia and hyperinsulinemia in obese Greek caucasians.		155540	22843	2	2004	Our results suggest that the LMNA 1908C-->T substitution and the Val81Ile mutation of the MC3R gene are unlikely to be major predictors of body composition in Greek Caucasians, but the latter genetic variation may predispose obese subjects to develop insulin and leptin resistance. Future studies are needed to confirm these data and assess whether individuals carrying this mutation are more resistant to weight-reducing and insulin-sensitizing treatments.	Cohort 112/116 young nonobese subjects (n=112, and a group of adult women with a body mass index (BMI) ranging from 23.2 to 47.7 kg/m2 (n=116) Greece 										
130317		physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	20	20q13.2-q13.3	MC3R	54257195	54258278		Loos, R. J.  et al. 2004	15597110				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2		Quebec	CDC GDPinfo	4159	Hs.248018			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		155540	25222	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
130318		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	18	18q22	MC4R	56189543	56190981		Marti A et al. 2003	12629567				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Spanish		KGB	4160	Hs.532833			International journal of obesity and related metabolic disorders. 2003 Mar;27(3):385-8	A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.		155541	4476	1	2003	 We have identified a novel nonsense mutation (Trp-16-Stop) that, based on previously described frameshift and nonsense mutations, most likely results in dominantly inherited obesity. Within this Spanish population, the frequency of the Ile-251-Leu polymorphism of the MC4R was similar in obese and control subjects (about 1.3%), while the polymorphism Val-103-Ile was only detected in an obese individual (0.6%).	Control:154 normal weight control subjects;Case:159 Spanish obese subjects										
130313	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.2-q13.3	MC3R	54257195	54258278		Hani, E. H.  et al. 2001	11397906				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2	French	France	CDC GDPinfo	4159	Hs.248018			The Journal of clinical endocrinology and metabolism. 2001 Jun;86(6):2895-8	Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians.		155540	18181	2	2001	the present study provides no evidence for a major role of the MC3R coding mutations underlying the genetic linkages of T2DM and the MC3R gene region on chromosome 20q13 in T2DM families from France and other geographical origins.	Case a large cohort of French families with type 2:diabetes:France;Control nondiabetic controls										
130314	Y	obesity	METABOLIC	MET	Obesity|Obesity, Morbid	20	20q13.2-q13.3	MC3R	54257195	54258278		Lee, Y. S.  et al. 2002	11889220				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDPinfo	4159	Hs.248018			The Journal of clinical endocrinology and metabolism. 2002 Mar;87(3):1423-6	A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.		155540	18182	2	2002	The difference in phenotypes between the two related heterozygotes, and the observation of obesity in other family members without the mutation suggests that obesity results from a varying combination of environmental, behavioural and multiple genetic factors (other than MC3R), even within the same family.	Case:41 unrelated obese children										
130315		obesity	METABOLIC	MET	Obesity, Morbid	20	20q13.2-q13.3	MC3R	54257195	54258278		Schalin-Jantti, C.  et al. 2003	12532156				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDPinfo	4159	Hs.248018			International journal of obesity and related metabolic disorders. 2003 Jan;27(1):70-4	Melanocortin-3-receptor gene variants in morbid obesity.		155540	18183	2	2003	 MC3R gene variants are common and do not explain human morbid obesity. These variants associated with subtle changes in onset of weight gain, hyperleptinemia and insulin-glucose ratios. The -239A>G mutation abolishes binding of GATA-4 to the MC3R promoter region.	Cohort 252 morbidly obese Finns 										
130310	Y	obesity	METABOLIC	MET	Obesity|Obesity, Morbid	20	20q13.2-q13.3	MC3R	54257195	54258278		Lee YS et al. 2002	11889220				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			KGB	4159	Hs.248018			The Journal of clinical endocrinology and metabolism. 2002 Mar;87(3):1423-6	A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.		155540	4475	1	2002	The difference in phenotypes between the two related heterozygotes, and the observation of obesity in other family members without the mutation suggests that obesity results from a varying combination of environmental, behavioural and multiple genetic factors (other than MC3R), even within the same family.	Case:41 unrelated obese children										
130311	Y	obesity	OTHER	OTH		20	20q13.2-q13.3	MC3R	54257195	54258278		Boucher, N.  et al. 2002	12142547	(+2138InsCAGACC )			Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDPinfo	4159	Hs.248018			Molecular medicine (Cambridge, Mass). 2002 Mar;8(3):158-65	A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence.		155540	12334	2	2002	 A new 12138InsCAGACC MC3R polymorphism is associated with the level of adiposity and with body fat partitioning in interaction with corpulence in humans.	Cohort 812 subjects of the Quebec Family Study (QFS) cohort 										
130312	Y	insulin; obesity; leptin	METABOLIC	MET	Obesity|Body Weight	20	20q13.2-q13.3	MC3R	54257195	54258278		Feng, N.  et al. 2005	16123355				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDPinfo	4159	Hs.248018			Diabetes. 2005 Sep;54(9):2663-7	Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity		155540	12335	2	2005	We conclude that  diminished MC3R expression in this double MC3R variant may be a predisposing factor for excessive body weight gain in children.											
130306	Y	vulvar vestibulitis syndrome	UNKNOWN	UNK	Pain|Vulvar Diseases|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Foster, D. C.  et al. 2004	15305821				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			The Journal of reproductive medicine. 2004 Jul;49(7):503-9	Impact of genetic variation in interleukin-1 receptor antagonist and melanocortin-1 receptor genes on vulvar vestibulitis syndrome.		155555	22842	2	2004	 The risk of VVS is increased with proinflammatory genetic variants of IL1RN and MC1R, and combined genetic effects are associated with additive risk. This study supports a genetic contribution to VVS, suggests an increased risk of VVS in women withfair skin and indicates potential new treatment and primary prevention options.	Case:36 consecutive vulvar vestibulitis syndrome patients;Control:69 pain-free controls										
130307	Y	glucocorticoid deficiency	METABOLIC	MET	Lipid Metabolism, Inborn Errors	18	18p11.2	MC2R	13872042	13905535		Tsigos C et al. 1993	8227361				Melanocortin 2 receptor (adrenocorticotropic hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000529.2			KGB	4158	Hs.248144			The Journal of clinical investigation. 1993 Nov;92(5):2458-61	Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.		607397	4473	1	1993	We conclude that  IGD in this family appears to be due to defects of the ACTH receptor gene. The oCRH test appears to be useful in ascertaining heterozygosity in this syndrome.											
130308	Y	cortisol	METABOLIC	MET		18	18p11.2	MC2R	13872042	13905535		Slawik, M.  et al. 2004	15240582			promoter	Melanocortin 2 receptor (adrenocorticotropic hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000529.2			CDC GDPinfo	4158	Hs.248144			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3131-7	Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH.		607397	12333	2	2004	In conclusion, we describe an ACTH receptor promoter polymorphism that results in a lower promoter activity in vitro and is associated with a lower cortisol secretion to prolonged ACTH stimulation in vivo. This polymorphism might influence cortisol homeostasis under stress conditions.	Cohort 1,266 unrelated healthy men 										
130303		obesity	METABOLIC	MET	Obesity	16	16q24.3	MC1R	88512526	88530006		Dubern, B.  et al. 2001	11487744				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			The Journal of pediatrics. 2001 Aug;139(2):204-9	Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children		155555	22839	2	2001	 MC4R mutations may be a non-negligible cause of severe obesity in children with variable expression and penetrance. Mutations in AGRP and alpha MSH genes were not among the causes of obesity in our population.	Control:283 non-obese subjects;Case:63 severely obses children										
130304		skin color	UNKNOWN	UNK		16	16q24.3	MC1R	88512526	88530006		Bonilla, C.  et al. 2005	15726415				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	African American		CDC GDPinfo	4157	Hs.513829			Human genetics. 2005 Apr;116(5):402-6	The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.		155555	22840	2	2005	Our study suggests that the ASIP G>A polymorphism exhibits a dominant effect leading to lighter skin color and that variation in the ASIP gene may have been one of several factors contributing to reductions in pigmentation in some populations. Further study is needed to reveal how interactions between ASIP and several other genes, such as MC1R and P, predict human pigmentation.	Cohort 234 Arican Americans 										
130305	N	melanoma	CANCER	CAN	Melanoma|Eye Neoplasms	16	16q24.3	MC1R	88512526	88530006		Vajdic, C.  et al. 2003	12883368				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			Melanoma research. 2003 Aug;13(4):409-13	Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.		155555	22841	2	2003	Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.	Control ethnicity-matched population controls;Case:62 ocular melanomal cases										
130300		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006		Pastorino, L.  et al. 2004	15221796				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			Human mutation. 2004 Jul;24(1):103	Novel MC1R variants in Ligurian melanoma patients and controls.		155555	18179	2	2004	Preliminary genotype/phenotype correlation seems to indicate that other genes involved in the regulation of human pigmentation may mask the recessive action of high-penetrance MC1R alleles, thus determining the low frequency of at-risk phototypes and of incidence and/or penetrance of melanoma in Liguria.	Control:17/207 red-haired individuals (n=17) and controls (n=207);Case:214 melanoma patients unselected for hair color but all of Ligurian descent										
130301	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Luscombe, C. J.  et al. 2001	11720436				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			British journal of cancer. 2001 Nov;85(10):1504-9	Prostate cancer risk: associations with ultravioletradiation, tyrosinase and melanocortin-1 receptor genotypes.		155555	20139	2	2001	Our data show for the first time, that allelism in genes linked with skin pigment synthesis is associated with prostate cancer risk possibly because it mediates the protective effects of UV. Importantly, susceptibility is associated with an interaction between host predisposition and exposure.	Control:155 controls not otherwise specified in abstract;Case:210 prostate cancer cases	radiation, ultraviolet									
130302		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	16	16q24.3	MC1R	88512526	88530006		Partridge, J. M.  et al. 2004	15210908				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			Neurology. 2004 Jun;62(12):2323-5	Susceptibility and outcome in MS: associations withpolymorphisms in pigmentation-related genes		155555	20147	2	2004	These preliminary data suggest a role for these genes in MS pathogenesis.	Case:419 multiple sclerosis patients;Control:422:controls										
130297		radiation, UV, sensitivity to	UNKNOWN	UNK	Erythema|Radiation Injuries	16	16q24.3	MC1R	88512526	88530006		Flanagan, N.  et al. 2001	11710950				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			The Journal of investigative dermatology. 2001 Nov;117(5):1314-7	The relation between melanocortin 1 receptor genotype and experimentally assessed ultraviolet radiation sensitivity		155555	18176	2	2001	Thus, although the minimal erythema dose values were not different, subjects with red hair develop greater intensity of erythema than nonredheaded individuals when doses greater than the minimal erythema dose are given. Importantly, when analyzed by genotype alone rather than phenotype, the slope of the erythema dose-response differed between those persons who were homozygous or heterozygous mutants and wildtype/pseudo-wildtype (p = 0.026).	Case:20:redheads;Control:20 nonredheaded subjects	radiation, ultraviolet									
130298		melanoma; skin cancer, non-melanoma	CANCER	CAN	Melanoma|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Dwyer, T.  et al. 2004	15105175				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2		Tasmania	CDC GDPinfo	4157	Hs.513829			American journal of epidemiology. 2004 May;159(9):826-33	Does the Addition of Information on Genotype Improve Prediction of the Risk of Melanoma and Nonmelanoma Skin Cancer beyond That Obtained from Skin Phenotype?		155555	18177	2	2004	Adding MC1R information to prediction based on age, sex, and cutaneous melanin increased the area under the receiver operating characteristic curve by 1.4% (cutaneous malignant melanoma), 3.2% (basal cell carcinoma), or 2.0% (squamous cell carcinoma). The improvement in prediction was probably too small to be valuable in a clinical setting.	Control:267:controls;Case:39/3542 cases with malignant melanoma (n = 39), basal cell carcinoma (n = 35), and squamous cell carcinoma (n:= 42)										
130299		pigmentation	OTHER	OTH	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Kanetsky, P. A.  et al. 2004	15159314				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Caucasian		CDC GDPinfo	4157	Hs.513829			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):808-19	Assessment of Polymorphic Variants in the Melanocortin-1 Receptor Gene with Cutaneous Pigmentation Using an Evolutionary Approach		155555	18178	2	2004	Our results indicate that the frequency of variants is similar to that previously observed among non-U.S. Caucasians. Risk variants defined by either the published literature or by evolutionary criteria are strongly and significantly associated with all fair pigmentation phenotypes that were measured.	Cohort 179 Caucasian controls United States 										
130294	Y	ephelides; solar lentigines	OTHER	OTH	Melanoma|Skin Neoplasms|Sunburn|Melanosis	16	16q24.3	MC1R	88512526	88530006		Bastiaens, M.  et al. 2001	11487574				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			Human molecular genetics. 2001 Aug;10(16):1701-8	The melanocortin-1-receptor gene is the major freckle gene		155555	18173	2	2001	As nearly all individuals with ephelides were carriers of at least one MC1R gene variant, our data suggest that MC1R gene variants are necessary to develop ephelides. The results of the study also suggest that MC1R gene variants play a role, although less important, in the development of solar lentigines.	Case patients with melanoma;Control patients with non-melanoma skin cancer and subjects without a history os skin cancer										
130295	Y	melanoma	CANCER	CAN	Melanoma|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Box, N. F.  et al. 2001	11500805				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			American journal of human genetics. 2001 Oct;69(4):765-73	MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.		155555	18174	2	2001	The impact of MC1R variants on risk of melanoma was mediated largely through the action of three common alleles, Arg151Cys, Arg160Trp, and Asp294His, that have previously been associated with red hair, fair skin, and skin sensitivity to ultraviolet light.	15 CDKN2A mutation-carrying melanoma pedigrees Australia 										
130296	Y	melanoma, cutaneous	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Kennedy, C.  et al. 2001	11511307				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			The Journal of investigative dermatology. 2001 Aug;117(2):294-300	Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.		155555	18175	2	2001	We conclude that  numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk. This predisposition is largely independent of skin type and hair color.	Case:123 patients with melanoma;Control:385 control subjects not otherwise specified in:abstract										
130291	Y	skin cancer; squamous cell carcinoma; carcinoma, basal cell	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006		Box, N. F.  et al. 2001	11179997				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2		Queensland	CDC GDPinfo	4157	Hs.513829			The Journal of investigative dermatology. 2001 Feb;116(2):224-9	Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.		155555	18170	2	2001	After adjusting for the effects of pigmentation on the association between MC1R variant alleles and basal cell carcinoma and squamous cell carcinoma risk, the association persisted, confirming that presence of at least one variant allele remains informative in terms of predicting risk for developing a solar-induced skin lesion beyond that information wained through observation of pigmentation phenotype.	Cohort 220 individuals drawn from the Nambour community Queensland, Australia 	solar injury									
130292	Y	skin cancer, nonmelanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Bastiaens, M. T.  et al. 2001	11254446				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			American journal of human genetics. 2001 Apr;68(4):884-94	Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.		155555	18171	2	2001	These findings indicate that MC1R gene variants are important independent risk factors for nonmelanoma skin cancer.	Control:385 subjects with no skin cancer;Case:453 patients with nonmelanoma skin cancer										
130293		skin cancer, nonmelanoma	CANCER	CAN		16	16q24.3	MC1R	88512526	88530006		Peng, S.  et al. 2001	11305330				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Chinese		CDC GDPinfo	4157	Hs.513829			Cell research. 2001 Mar;11(1):81-4	Melanocortin-1 receptor gene variants in four Chinese ethnic populations.		155555	18172	2	2001	The frequency of Arg163Gln variant varies in the four ethnic populations, with percentage of 40%, 85.0%, 66.2% and 72.7%, respectively, while those of Val92Met and A942G are roughly similar in these four populations.	Cohort 50 individuals from the Uygur, Tibetan, Wa and Dai ethnic populations Uygur, Tibet and Dai 										
130288		vitiligo	IMMUNE	IMM	Vitiligo	16	16q24.3	MC1R	88512526	88530006		Na, G. Y.  et al. 2003	12859622				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Korean	Korea	CDC GDPinfo	4157	Hs.513829			Pigment cell research. 2003 Aug;16(4):383-7	Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients.		155555	12331	2	2003	None of these associations, however, reached statistical significance.	Control:111 normal controls;Case:114 Korean vitiligo patients										
130289	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Jannot, A. S.  et al. 2005	15889046				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			European journal of human genetics. 2005 Aug;13(8):913-20	Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.		155555	12987	2	2005	Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma.	Control:105 Caucasian conrol subjects with no personal or family history of skin cancer;Case:113 patients with melanomas										
130290	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Bone Neoplasms|Prostatic Neoplasms	16	16q24.3	MC1R	88512526	88530006		Luscombe, C. J.  et al. 2001	11532853				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDPinfo	4157	Hs.513829			Carcinogenesis. 2001 Sep;22(9):1343-7	Outcome in prostate cancer associations with skin type and polymorphism in pigmentation-related genes.		155555	14700	2	2001	These data indicate for the first time that pigmentation response to UV is associated with outcome in prostate cancer.	Cohort 210 prostate cancer patients 	radiation, ultraviolet									
130285	Y	cutaneous melanoma which is largely independent of skin type and hair color	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Kennedy C et al. 2001	11511307				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			KGB	4157	Hs.513829			The Journal of investigative dermatology. 2001 Aug;117(2):294-300	Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.		155555	4470	1	2001	We conclude that  numerous melanocortin 1 receptor variants predispose to cutaneous melanoma and that possibly the Asp84Glu variant confers the highest risk. This predisposition is largely independent of skin type and hair color.	Case:123 patients with melanoma;Control:385 control subjects not otherwise specified in:abstract										
130286	N	Ocular melanoma	CANCER	CAN	Melanoma|Eye Neoplasms	16	16q24.3	MC1R	88512526	88530006	n	Vajdic C 2003	12883368				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	unknown		KGB	4157	Hs.513829			Melanoma research. 2003 Aug;13(4):409-13	Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.		155555	4471	1	2003	Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.	Control ethnicity-matched population controls;Case:62 ocular melanomal cases										
130287	Y	oculocutaneous albinism type 2	OTHER	OTH	Albinism, Oculocutaneous	16	16q24.3	MC1R	88512526	88530006		King RA 2003	12876664				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			KGB	4157	Hs.513829			American journal of human genetics. 2003 Sep;73(3):638-45	MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).		155555	4472	1	2003	This is the first demonstration of a gene modifying the OCA phenotype in humans.											
130281		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	18	18q23	MBP	72819776	72973762		Gong, R.  et al. 2002	11940329				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			CDC GDPinfo	4155	Hs.551713			Chinese medical journal. 2002 Feb;115(2):192-6	Genetic variation of mannose-binding protein associated with glomerular immune deposition in IgA nephropathy		159430	18166	2	2002	 Genetic variation of the host defense molecule, MBP, may be involved in the formation of the diverse patterns of glomerular immune deposition in IgAN. The variant allele of the MBP gene may partially account for abundant immune deposits in some IgAN patients.	Control:144 healthy adults;Case:147 IgA nephropathy patients with different patterns of glomerular immune deposition										
130282	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	18	18q23	MBP	72819776	72973762		Guerini, F. R.  et al. 2003	12939427				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1	Russian	Russia|Italy	CDC GDPinfo	4155	Hs.551713			Neurology. 2003 Aug;61(4):520-6	Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians.		159430	22837	2	2003	 Polymorphism of the MBP or another gene in its vicinity appears to contribute to the etiology of MS for the subgroups of DR4- and DR5-positive Italians and Russians.	Case:269 unrelated patients with definite multiple sclerosis Italy and Russia;Control:385 unrelated healthy control subjects										
130284	Y	melanoma	CANCER	CAN	Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006	< 0.05	Melanoma Research 2002. 12. pp. 405-416	12394181	Arg151Asp294His Cys, Arg160Trp		coding sequence	Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			Alex Wang. DCB/CIT/NIH	4157	Hs.513829			Melanoma research. 2002 Oct;12(5):405-16			155555	4469	1	2002	These studies have shown that three RHC alleles - Arg151Asp294His Cys, Arg160Trp and - were associated with increased risk in all forms of skin cancer and with penetrance and age of onset in familial melanoma in mutation carriers.											
130278		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	18	18q23	MBP	72819776	72973762		Davies EJ1995	7818559				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			Y Wang	4155	Hs.551713			Arthritis and rheumatism. 1995 Jan;38(1):110-4	Mannose-binding protein gene polymorphism in systemic lupus erythematosus.		159430	4468	1	1995												
130279	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	18	18q23	MBP	72819776	72973762		Gong, R.  et al. 2001	11295122				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			CDC GDPinfo	4155	Hs.551713			Zhonghua yi xue yi chuan xue za zhi. 2001 Apr;18(2):83-7	[Mannose-binding protein gene polymorphism influences the patterns of glomerular immune deposition in IgA nephropathy]		159430	12329	2	2001	 The above findings provide evidence that IgAN patients with abundant immune deposits in glomeruli show a higher frequency of MBP gene variation which is associated with a high frequency of infection and a low serum MBP level. This genetic deficiency may lead to an impaired first-line defense and a less effective clearance of immune complex than those without this mutation and thereafter accelerate glomerular immune deposition during the process of disease.	Control:140 healthy adults;Case:70 patients with glomerular IgA, IgG, IgM, C3 and Clq:deposits;Case:77 patients with glomerular IgA and C3 deposits										
130280	N	arthritis	IMMUNE	IMM		18	18q23	MBP	72819776	72973762		Shi, H.  et al. 2001	11402450				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1	Chinese		CDC GDPinfo	4155	Hs.551713			Zhonghua yi xue yi chuan xue za zhi. 2001 Jun;18(3):202-5	[Genotype polymorphism and its implications of mannose-binding protein allele in 5 Chinese nationalities]		159430	12330	2	2001	 A higher prevalence of MBP-54 mutation was found in 5 Chinese nationalities, MBP-54 mutation was not associated with the persistence of hepatitis B.	Cohort 22 5 Chinese nationalities China 										
130274	N	chronic progressive multiple sclerosis.	IMMUNE	IMM	Multiple Sclerosis|Chronic Disease	18	18q23	MBP	72819776	72973762	n	Vandevyver C et al. 1994	7515903				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KGB	4155	Hs.551713			Journal of neuroimmunology. 1994 Jun;52(1):97-9	Myelin basic protein gene polymorphism is not associated with chronic progressive multiple sclerosis.		159430	4464	1	1994												
130275	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762	n	Graham CA et al. 1993	7685461				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KGB	4155	Hs.551713			Lancet. 1993 Jun;341(8860):1596	Lack of association between myelin basic protein gene microsatellite and multiple sclerosis.		159430	4465	1	1993												
130276		host defence	IMMUNE	IMM		18	18q23	MBP	72819776	72973762		Matsushita M et al. 1995	7487919	Gly-54-->Asp			Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KGB	4155	Hs.551713			The Biochemical journal. 1995 Nov;311 ( Pt 3):1021-3	The Gly-54-->Asp allelic form of human mannose-binding protein (MBP) fails to bind MBP-associated serine protease.		159430	4466	1	1995												
130277	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762	n	He B 1998	9482678				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1	Swedish		TJB	4155	Hs.551713			Acta neurologica Scandinavica. 1998 Jan;97(1):46-51			159430	4467	1	1998	We conclude that  the MBP gene does not influence susceptibility to MS in Swedish patients.	Case:149; Control:95										
130270	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762	n	Price SE 1997	9460711				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			TJB	4155	Hs.551713			Neuropathology and applied neurobiology. 1997 Dec;23(6):457-67			159430	4460	1	1997		Case:71; Control:71										
130271	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	18	18q23	MBP	72819776	72973762		Sullivan KE 2003	12626795				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KEW	4155	Hs.551713			Rheumatology (Oxford, England). 2003 Mar;42(3):446-52			159430	4461	1	2003	 The results of the study suggest that genes may interact in ways that either synergize or modify the effect of a single genetic effect and imply that association studies must be interpreted within the genetic background of the populations.	Case:160; Control:212										
130272	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762	n	Wood NW et al. 1994	7523603				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KGB	4155	Hs.551713			Journal of neurology, neurosurgery, and psychiatry. 1994 Oct;57(10):1191-4	No linkage or association between multiple sclerosis and the myelin basic protein gene in affected sibling pairs.		159430	4462	1	1994												
130273	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762		Boylan KB et al. 1990	1691612				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			KGB	4155	Hs.551713			Annals of neurology. 1990 Mar;27(3):291-7	DNA length polymorphism 5' to the myelin basic protein gene is associated with multiple sclerosis.		159430	4463	1	1990												
130267		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	10	10q11.2-q21	MBL2	54195145	54201466		Rocha, V.  et al. 2002	12393699				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		154545	27967	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
130268		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	10	10q11.2-q21	MBL2	54195145	54201466		Helbig, K. J.  et al. 2003	12595908				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		154545	28242	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
130269		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Barton, A.  et al. 2002	11981324				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		154545	28522	2	2002	Review article											
130264		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	10	10q11.2-q21	MBL2	54195145	54201466		Nishimura, M.  et al. 2003	12651071				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		154545	27545	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
130265		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	10	10q11.2-q21	MBL2	54195145	54201466		Tsao, B. P.   2002	12126589				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		154545	27788	2	2002	Review article											
130266		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Jonsen, A.  et al. 2004	15535834				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		154545	27789	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
130261		sepsis	INFECTION	INF	Sepsis	10	10q11.2-q21	MBL2	54195145	54201466		Ahrens, P.  et al. 2004	14739370				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Pediatric research. 2004 Apr;55(4):652-6	Mutations of Genes Involved in the Innate Immune System as Predictors of Sepsis in Very Low Birth Weight Infants		154545	26398	2	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants 										
130262		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Choi, E. H.  et al. 2005	16110781				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		154545	27543	2	2005												
130263		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		10	10q11.2-q21	MBL2	54195145	54201466		Nguyen, D. P.  et al. 2004	15292002				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		154545	27544	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
130258		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Mombo, L. E.  et al. 2003	12641410				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		Gabon	CDC GDPinfo	4153	Hs.499674			The American journal of tropical medicine and hygiene. 2003 Feb;68(2):186-90	Human genetic polymorphisms and asymptomatic Plasmodium falciparum malaria in Gabonese schoolchildren.		154545	22835	2	2003	We conclude that  G6PD A- heterozygous females are protected against all forms of P. falciparum malaria, and that the TNFalpha(-238A) allele confers protection against clinical malaria.	Cohort 158 Gabonese schoolchildren 										
130259		dementia	PSYCH	PSY		10	10q11.2-q21	MBL2	54195145	54201466		Lozano, F.  et al. 2005	16029433				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	North African and Sub-Saharan individuals		CDC GDPinfo	4153	Hs.499674			Tissue antigens. 2005 Aug;66(2):131-5	Novel MASP2 variants detected among North African and Sub-Saharan individuals.		154545	22836	2	2005												
130260		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Fitness, J.  et al. 2004	15381817				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Malawian	Malawi	CDC GDPinfo	4153	Hs.499674			The American journal of tropical medicine and hygiene. 2004 Sep;71(3):341-9	Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.		154545	25221	2	2004	Genetic susceptibility to TB in Africans appears polygenic. The relevant genes and variants may vary significantly between populations, and may be affected by HIV infection status.	Case:514 tuberculosis cases Karonga district, northern Malawi;Control:913:controls	HIV									
130255		systemic inflammatory response syndrome	IMMUNE	IMM	Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	10	10q11.2-q21	MBL2	54195145	54201466		Sutherland, A. M.  et al. 2005	15753758				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		British Columbia	CDC GDPinfo	4153	Hs.499674			Critical care medicine. 2005 Mar;33(3):638-44	Polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of infection in critically ill adults.		154545	22832	2	2005	 Single nucleotide polymorphisms in CD14, mannose-binding lectin, and Toll-like receptor-2 are associated with increased prevalence of positive bacterial cultures and sepsis but not with altered prevalence of septic shock or decreased 28-day survival. Furthermore, CD14 single nucleotide polymorphisms were associated with Gram-negative bacteria and Toll-like receptor-2 with Gram-positive bacteria, whereas mannose-binding lectin was not associated with a particular organism class. Thus, single nucleotide polymorphisms in innate immunity receptors may alter recognition and clearance of bacteria without changing outcomes of critically ill adults with systemic inflammatory response syndrome.	Cohort 252 critically ill Caucasians with systemic inflammatory response syndrome 										
130256		SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome	10	10q11.2-q21	MBL2	54195145	54201466		Yuan, F. F.  et al. 2005	16185324				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Tissue antigens. 2005 Oct;66(4):291-6	Influence of FcgammaRIIA and MBL polymorphisms on severe acute respiratory syndrome.		154545	22833	2	2005												
130257		otitis media	OTHER	OTH	Otitis Media with Effusion|Recurrence	10	10q11.2-q21	MBL2	54195145	54201466		Straetemans, M.  et al. 2005	15742161				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Journal of clinical immunology. 2005 Jan;25(1):78-86	Immunological status in the aetiology of recurrent otitis media with effusion: serum immunoglobulinlevels, functional mannose-binding lectin and Fc receptor polymorphisms for IgG.		154545	22834	2	2005												
130252		MBL2 serum levels	NORMALVARIATION	NV		10	10q11.2-q21	MBL2	54195145	54201466		Lee, S. G.  et al. 2005	15829288				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Korean		CDC GDPinfo	4153	Hs.499674			Molecular immunology. 2005 May;42(8):969-77	Analysis of mannose-binding lectin 2 (MBL2) genotype and the serum protein levels in the Korean population.		154545	18162	2	2005	Our results support that the promoter and coding polymorphisms of MBL are correlated with its functional activity as well as circulating levels, and the association patterns are quite similar to those of other populations.	Cohort 129 Korean individuals 										
130253		rheumatic heart disease	IMMUNE	IMM		10	10q11.2-q21	MBL2	54195145	54201466		Jin, Z.  et al. 2001	16200716				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Zhonghua yi xue za zhi. 2001 Nov;81(21):1284-6	[Mannose-binding lectin gene site mutations and the susceptibility of rheumatic heart disease]		154545	18164	2	2001	 MBL gene mutations may not be a main factor of the pathogenesis of CRHD, but MBL deficiency may facilitate the development of CRHD in younger people and accelerate the progress of CRHD. This is consistent with the phenomenon that the most susceptible people of rheumatic heart disease are teenagers.											
130254		mannose-binding protein	METABOLIC	MET		10	10q11.2-q21	MBL2	54195145	54201466		Bernig, T.  et al. 2005	16208516				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Dutch		CDC GDPinfo	4153	Hs.499674			Human genetics. 2005 Dec;118(4-Mar):404-15	An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3' haplotypes could modify circulating levels of mannose-binding lectin.		154545	18165	2	2005												
130249	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Cardiovascular Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Hansen, T. K.  et al. 2004	15161763				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Diabetes. 2004 Jun;53(6):1570-6	Association between mannose-binding lectin and vascular complications in type 1 diabetes		154545	18158	2	2004	Our findings suggest that MBL may be involved in the pathogenesis of micro- and macrovascular complications in type 1 diabetes, and that determination of MBL status might be used to identify patients at increased risk of developing these complications.	Control:192/100 type 1 diabetic patients with persistent normoalbuminuria matched for age, sex, and duration of diabetes (n=192) , and healthy control subjects:(n=100);Case:199 type 1 diabetic patients with overt nephropathy										
130250		candidiasis	INFECTION	INF		10	10q11.2-q21	MBL2	54195145	54201466		Skalnikova, H.  et al. 2004	15627619				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Czech		CDC GDPinfo	4153	Hs.499674			Journal of immunological methods. 2004 Dec;295(2-Jan):139-47	Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR.		154545	18159	2	2004	MBL2 haplotypes in 359 individuals of the general Czech population were detected using this approach. The rare LYD haplotype was found in 1.1% of all alleles.	Cohort 359 Czech individuals 										
130251	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	10	10q11.2-q21	MBL2	54195145	54201466		Park, K. S.  et al. 2005	15730518				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		Korea	CDC GDPinfo	4153	Hs.499674			Tissue antigens. 2005 Mar;65(3):260-5	Association of HYPA haplotype in the mannose-binding lectin gene-2 with Bechet's disease.		154545	18160	2	2005	It seems that possessing HYPA increases the risk of BD and that the MBL2 HYPA haplotype plays a role in MBL levels and increases the susceptibility to BD.	Control:controls;Case:282 Behcet's disease patients	anti-inflammatory agents									
130246	Y	mannose-binding lectin levels	METABOLIC	MET	Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Minchinton, R. M.  et al. 2002	12472676				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Australian	Australia	CDC GDPinfo	4153	Hs.499674			Scandinavian journal of immunology. 2002 Dec;56(6):630-41	Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population.		154545	18155	2	2002	Significant associations were found between both coding and promoter polymorphisms and MBL antigenic and functional levels. There was significant correlation between the results of MBL double-antibody, mannan-binding and C4-deposition assays. Comprehensive MBL genotyping and functional MBL quantitation using mannan-binding and C4-deposition assays have the potential to be highly informative in MBL disease association studies.	Cohort 236 Australian blood donors Australia 										
130247		kawasaki disease	CARDIOVASCULAR	CARD	Coronary Disease|Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Biezeveld, M. H.  et al. 2003	12699957				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Lancet. 2003 Apr;361(9365):1268-70	Association of mannose-binding lectin genotype with cardiovascular abnormalities in Kawasaki disease.		154545	18156	2	2003	Our findings suggest that the innate immune system contributes differently to pathophysiology of Kawasaki disease at various ages.	Cohort 90 white Dutch patients with Kawasaki disease 										
130248	N	cardiovascular disease; mennose-binding lectin deficiency	CARDIOVASCULAR	CARD	Infection|Neoplasms|Disease Susceptibility	10	10q11.2-q21	MBL2	54195145	54201466		Dahl, M.  et al. 2004	15148337				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Caucasian	Denmark	CDC GDPinfo	4153	Hs.499674			The Journal of experimental medicine. 2004 May;199(10):1391-9	A population-based study of morbidity and mortality in mannose-binding lectin deficiency.		154545	18157	2	2004	Our results suggest that MBL deficiency is not a major risk factor for morbidity or death in the adult Caucasian population.	Cohort 9,245 individuals from the adult Danish population 										
130243	Y	mannose-binding lectin levels, serum	METABOLIC	MET	Arthritis, Rheumatoid|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Gupta, B.  et al. 2005	16220211				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Indian		CDC GDPinfo	4153	Hs.499674			Journal of human genetics. 2005 ;50(11):583-91	Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples.		154545	12328	2	2005												
130244		mannose-binding lectin insufficiency	METABOLIC	MET	Respiratory Tract Infections|Acute Disease	10	10q11.2-q21	MBL2	54195145	54201466		Koch, A.  et al. 2001	11255386				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		Greenland	CDC GDPinfo	4153	Hs.499674			JAMA. 2001 Mar;285(10):1316-21	Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood.		154545	18153	2	2001	 These data suggest that genetic factors such as MBL insufficiency play an important role in host defense, particularly during the vulnerable period of childhood from age 6 through 17 months, when the adaptive immune system is immature.	Cohort 252 children younger than 2 years in population based, prospective, cohort study Sisimiut, Greenland between August 1996 and August 1998 										
130245	Y	systemic lupus erythematosus	IMMUNE	IMM	Infection|Lupus Erythematosus, Systemic|Disease Progression|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Garred, P.  et al. 2001	11781711				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Genes and immunity. 2001 Dec;2(8):442-50	Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients.		154545	18154	2	2001	Only in SLE patients fulfilling >/=4 ACR criteria an increased frequency of MBL variant alleles was found. MBL variant alleles were also associated with increased risk of disease activity and of complicating infections indicating that the MBL gene is an SLE disease modifier locus.	Cohort 99 systemic lupus erythematosus patients 										
130240	Y	bacterial infection	INFECTION	INF	Bacterial Infections|Hematologic Neoplasms|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Horiuchi, T.  et al. 2005	15674393				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Genes and immunity. 2005 Mar;6(2):162-6	Association of MBL gene polymorphisms with major bacterial infection in patients treated with high-dose chemotherapy and autologous PBSCT.		154545	12324	2	2005	The frequency of allele B was estimated to be approximately 0.2, almost the same in seven different areas of Japan. This common occurrence suggests that MBL deficiency may play an important role in the clinical settings of immunosuppression.	Cohort 113 patinets treated with high-dose chemotherapy and autologous peripheral blood stem cell transplantation Cohort 2,623 population-based healthy individuals from 7 different areas of Japan Japan 										
130241	Y	SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Zhang, H.  et al. 2005	16170752				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			The Journal of infectious diseases. 2005 Oct;192(8	Association between mannose-binding lectin gene polymorphisms and susceptibility to severe acute respiratory syndrome coronavirus infection.		154545	12325	2	2005	 MBL gene polymorphisms were significantly associated with susceptibility to SARS-CoV infection; this might be explained by the reduced expression of functional MBL secondary to having the codon 54 variant.											
130242		HTLV-1 infection	INFECTION	INF	Deltaretrovirus Infections	10	10q11.2-q21	MBL2	54195145	54201466		Pontes, G. S.  et al. 2005	16216673				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Human immunology. 2005 Aug;66(8):892-6	Characterization of mannose-binding lectin gene polymorphism among human T-cell lymphotropic virus 1 and 2-infected asymptomatic subjects.		154545	12327	2	2005												
130237	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Yang, J.  et al. 2004	15144709	codon 54			Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Zhonghua er ke za zhi Chinese journal of pediatrics. 2004 Mar;42(3):176-9	[Correlation between mannose-binding lectin gene codon 54 polymorphism and susceptibility of Kawasaki disease]		154545	12321	2	2004	 The codon 54 polymorphism of MBL gene was associated with KD. It is possible that MBL gene codon 54 mutation might be related to the pathogenesis of KD.	Control:160 healthy subjects;Case:95 patients with Kawasaki disease										
130238		vulvar vestibulitis	UNKNOWN	UNK	Vulvitis	10	10q11.2-q21	MBL2	54195145	54201466		Babula, O.  et al. 2004	15467537	codon 54			Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			American journal of obstetrics and gynecology. 2004 Sep;191(3):762-6	Altered distribution of mannose-binding lectin alleles at exon I codon 54 in women with vulvar vestibulitis syndrome		154545	12322	2	2004	 MBL*B carriage and reduced plasma MBL levels are more common in women with vulvar vestibulitis syndrome than in control patients, and may contribute to symptomatology in a subset of patients.	Control:48/51 control women in New York (n=48) and Sweden (n=51);Case:62/60 women with vulvar vestibulitis syndrome in New York (n=62) and from 2 cities in Sweden (n=60) New York and Sweden										
130239	Y	lupus erythematosus	IMMUNE	IMM	Opportunistic Infections|Lupus Erythematosus, Systemic|Disease Progression|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Takahashi, R.  et al. 2005	15647440				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Annals of the rheumatic diseases. 2005 Feb;64(2):311-4	Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus.		154545	12323	2	2005	 MBL gene polymorphism influences susceptibility to SLE, but has no direct effect on disease characteristics. Serum MBL levels fluctuate during the course of SLE in individual patients. MBL genotyping may be useful in assessing the risk of infection during treatment of SLE.	Case:147 patients with systemic lupus erythematosus;Control:160 healthy controls										
130234	Y	cardiovascular abnormalities	CARDIOVASCULAR	CARD	Coronary Disease|Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Biezeveld MH et al. 2003	12699957				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			Lancet. 2003 Apr;361(9365):1268-70	Association of mannose-binding lectin genotype with cardiovascular abnormalities in Kawasaki disease.		154545	8024	1	2003	Our findings suggest that the innate immune system contributes differently to pathophysiology of Kawasaki disease at various ages.	Cohort 90 white Dutch patients with Kawasaki disease										
130235	N	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Malik, S.  et al. 2003	12715245				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Colombian	Colombia	CDC GDPinfo	4153	Hs.499674			Immunogenetics. 2003 Apr;55(1):49-52	Absence of association between mannose-binding lectin gene polymorphisms and HIV-1 infection in a Colombian population.		154545	12319	2	2003	Since there is a well-documented link between the tested MBL alleles and very low MBL serum concentration, these results do not support the hypothesis that MBL levels are a risk factor for HIV-1 infection in Colombia.	Case Colombian HIV-infected individuals:Colombia;Control control individuals										
130236		kawasaki disease	IMMUNE	IMM		10	10q11.2-q21	MBL2	54195145	54201466		Lu, C. W.  et al. 2003	14669753			promoter	Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDPinfo	4153	Hs.499674			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1165-8	[Investigation of single nucleotide polymorphisms in the promoter region of mannan-binding lectin gene in a Han population from Guangdong]		154545	12320	2	2003	 The polymorphism genotypes in the promoter region of MBL gene in this chosen population are mostly LYP/LYQ and LXP/LYQ.	Cohort 167 Chinese Han individuals Guangdong Province, China 										
130231	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Boniotto M et al. 2002	12439623				mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			Immunogenetics. 2002 Nov;54(8):596-8	Variant mannose-binding lectin alleles are associated with celiac disease.		154545	4459	1	2002												
130232	N	HIV-1 infection	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Malik S et al. 2003	12715245				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Colombian	Colombia	KGB	4153	Hs.499674			Immunogenetics. 2003 Apr;55(1):49-52	Absence of association between mannose-binding lectin gene polymorphisms and HIV-1 infection in a Colombian population.		154545	8015	1	2003	Since there is a well-documented link between the tested MBL alleles and very low MBL serum concentration, these results do not support the hypothesis that MBL levels are a risk factor for HIV-1 infection in Colombia.	Case Colombian HIV-infected individuals:Colombia;Control control individuals										
130233	Y	Lupus	IMMUNE	IMM	Infection|Lupus Erythematosus, Systemic|Disease Progression|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Garred P et al. 2001	11781711				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			Genes and immunity. 2001 Dec;2(8):442-50	Association of mannose-binding lectin gene variation with disease severity and infections in a population-based cohort of systemic lupus erythematosus patients.		154545	8020	1	2001	Only in SLE patients fulfilling >/=4 ACR criteria an increased frequency of MBL variant alleles was found. MBL variant alleles were also associated with increased risk of disease activity and of complicating infections indicating that the MBL gene is an SLE disease modifier locus.	Cohort 99 systemic lupus erythematosus patients										
130227	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	10	10q11.2-q21	MBL2	54195145	54201466	0.005	Best LG 2004	14732744	allele B at codon 54 (G54D), allele C at codon 57 (G57E), and allele D at codon 52 (R52C),	decreased MBL expression, dominant negative effect	coding sequence	Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	American		KGB	4153	Hs.499674			Circulation. 2004 Feb;109(4):471-5	Prospective analysis of mannose-binding lectin genotypes and coronary artery disease in American Indians: the Strong Heart Study.		154545	4455	1	2004	 Variant MBL genotypes coding for markedly diminished levels of MBL are predictive of CAD. After adjustment for multiple traditional risk factors for ischemic heart disease, this association remains significant. A high prevalence of variant MBL alleles and CAD in this population suggests that potentially important public health benefits may accrue from future interventions based on these genotypes.											
130228	Y	Gestational Diabetes	METABOLIC	MET	Diabetes, Gestational|Glucose Intolerance|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	p < 0.01	Megia et al 2004	15472209	G54D, R52C	decreased active MBL protein, dominant negative effect	coding sequence	Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Caucasian		Luis Gallart	4153	Hs.499674			The Journal of clinical endocrinology and metabolism. 2004 Oct;89(10):5081-7	Mannose-binding lectin gene polymorphisms are associated with gestational diabetes mellitus.		154545	4456	1	2004		Case:105; Control:173										
130230	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	0.003	Huang YF Wei Wang 2003	12648279	wildtype allele A and variant allele B		coding sequence	mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Chinese	China	Wei Wang	4153	Hs.499674			European journal of immunogenetics. 2003 Apr;30(2):121-4	Increased frequency of the mannose-binding lectin LX haplotype in Chinese systemic lupus erythematosus patients		154545	4458	1	2003		Case:41; Control:111										
130223		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	3	3q21-q22	MBD4	130632482	130641542		Hao, B.  et al. 2004	15205355				Methyl-CpG binding domain protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF072250	Chinese		CDC GDPinfo	8930	Hs.35947			Cancer research. 2004 Jun;64(12):4378-84	Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma		603574	22831	2	2004	The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.	Control;Case;Case:419 Chinese patients with newly diagnosed esophageal:cancer;Control:480 healthy controls mathched on age and sex										
130224	Y	Primary Biliary Cirrhosis	IMMUNE	IMM	Liver Cirrhosis, Biliary|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	0.003	Matsushita M 2001	11712863	HYPA			Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			Journal of autoimmunity. 2001 Nov;17(3):251-7			154545	4452	1	2001												
130226	Y	early polyarthritis	IMMUNE	IMM	Arthritis|Disease Progression|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	0.004	Jacobsen S 2001	11361219				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			The Journal of rheumatology. 2001 May;28(5):935-42			154545	4454	1	2001	 MBL variant alleles appear to be weak susceptibility markers for RA, and patients with early polyarthritis and homozygous for MBL structural variant alleles have a higher risk of developing early erosive RA. These findings, together with the positive association between MBL variant alleles and the increased serum levels of IgM RF and CRP, point at the MBL gene as a relevant locus in the pathophysiology of RA.											
130220		multiple epiphyseal dysplasia	OTHER	OTH		22	22q13.1	MB	34332756	34349347		Takata, T.  et al. 2002	12030657				Myoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005368.2	Japanese		CDC GDPinfo	4151	Hs.517586			Human biology; an international record of research. 2002 Apr;74(2):317-20	Allele frequencies of single nucleotide polymorphisms in the second exon of the myoglobin gene among the Japanese.		160000	12314	2	2002	The distribution of alleles in the Japanese population was significantly different from that reported among whites, blacks, and Hispanics (p < 0.0001).	Cohort Japanese population sample 										
130221		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	18	18q21	MBD1	46047249	46061844		Jang, J. S.  et al. 2005	16284366				Methyl-CpG binding domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015846.2		Korea	CDC GDPinfo	4152	Hs.405610			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2474-80	Methyl-CpG binding domain 1 gene polymorphisms and risk of primary lung cancer.		156535	12315	2	2005												
130222		breast cancer	CANCER	CAN	Breast Neoplasms	18	18q21	MBD2	49934572	50005156		Zhu, Y.  et al. 2005	16168120				Methyl-CpG binding domain protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003927.3			CDC GDPinfo	8932	Hs.25674			Breast cancer research. 2005 ;7(5):R745-52	Genotypes and haplotypes of the methyl-CpG-binding domain 2 modify breast cancer risk dependent upon menopausal status.		603547	18152	2	2005	 Our results demonstrate a role for the MBD2 gene in breast carcinogenesis in premenopausal women. These findings suggest that genetic variations in methylation related genes may potentially serve as a biomarker in risk estimates for breast cancer.											
130215	Y	osteoarthritis	METABOLIC	MET	Spondylarthritis|Osteoarthritis|Disease Progression|Genetic Predisposition to Disease	2	2p24-p23	MATN3	20055293	20075936			16396979				Matrilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002381.3			CDC GDPinfo	4148	Hs.6985			Annals of the rheumatic diseases. 2006	Association of matrilin-3 polymorphisms with spinal disc degeneration and with osteoarthritis of the CMC1 joint of the hand		602109	12313	2	2006	 These associations suggest that the MATN3 region also determines susceptibility to spinal disc degeneration and CMC1 osteoarthritis.											
130216	N	multiple epiphyseal dysplasia	OTHER	OTH	Osteochondrodysplasias	2	2p24-p23	MATN3	20055293	20075936		Jakkula, E.  et al. 2004	15523498				Matrilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002381.3			CDC GDPinfo	4148	Hs.6985			European journal of human genetics. 2005 Mar;13(3):292-301	Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.		602109	27090	2	2004	The findings suggest that mutations in the known genes are not the major cause of MED and are responsible for less than half of the cases. The existence of additional MED loci is supported by the exclusion of known loci by mutation analysis and finding of specific subgroups among these patients.	Cohort 29 consecutive mutiple epiphyseal dysplasia patients 										
130218		breast cancer	CANCER	CAN		5	5p13.3	SLC45A2	33980477	34020537		Yuasa, I.  et al. 2004	15455243				solute carrier family 45, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016180.3	German		CDC GDPinfo	51151	Hs.278962			International journal of legal medicine. 2004 Dec;118(6):364-6	MATP polymorphisms in Germans and Japanese: theL374F mutation as a population marker for Caucasoids.		606202	13779	2	2004	This extreme difference in allele frequency suggests that the L374F mutation is valuable as a population and ancestry informative marker for Caucasoids.	Cohort individuals from Germany and Japan Germany and Japan 										
130211	Y	methionine adenosyltransferase I/III deficiency	OTHER	OTH		10	10q22	MAT1A	82037759	82038178		Chamberlin ME et al. 1996	8770875				methionine adenosyltransferase I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128076			KGB	4143	Hs.282670			J Clin Invest	Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.		250850	4449	1	1996												
130212	Y	radiographically evident osteoarthritis	OTHER	OTH	Osteoarthritis	1	1p35	MATN1	30958582	30969474		Meulenbelt I et al. 1997	9336408				matrilin 1, cartilage matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002379.2			KGB	4146	Hs.150366			Arthritis and rheumatism. 1997 Oct;40(10):1760-5	Investigation of the association of the CRTM and CRTL1 genes with radiographically evident osteoarthritis in subjects from the Rotterdam study.		115437	4450	1	1997	 These results suggest that the CRTM locus may play a role in the sex- and joint site-specific pattern of ROA development.											
130214	Y	multiple epiphyseal dysplasia	DEVELOPMENTAL	DEV	Osteochondrodysplasias	2	2p24-p23	MATN3	20055293	20075936		Chapman KL et al. 2001	11479597				Matrilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002381.3			KGB	4148	Hs.6985			Nature genetics. 2001 Aug;28(4):393-6	Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.		602109	4451	1	2001												
130207	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Neuroblastoma|Alzheimer Disease	11	11p12-p11.2	MAPK8IP1	45863777	45884592		Helbecque, N.  et al. 2003	12740599			promoter	Mitogen-activated protein kinase 8 interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005456.2		France	CDC GDPinfo	9479	Hs.234249			Molecular psychiatry. 2003 Apr;8(4):413-22, 363	Islet-brain1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease.		604641	18140	2	2003	Taken together, these data indicate that the increased transcriptional activity in the presence of the G allele of MAPK8IP1 is a risk factor to the onset of in patients bearing the CC genotype of the LRP gene.	Cohort two separate French populations 										
130208		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Cell Transformation, Neoplastic|	18	18q12.1	MAPRE2	30875388	30975813		Jais P et al. 1998	9823979				Microtubule-associated protein, RP/EB family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014268.1			KGB	10982	Hs.532824			British journal of cancer. 1998 Nov;78(10):1356-60	Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.		605789 		6682	1	1998												
130210		Van der Woude syndrome	DEVELOPMENTAL	DEV	Deafness|Syndrome	5	5q13	MASS1	89890372	90495789		Weston MD 2004	14740321				Monogenic, audiogenic seizure susceptibility 1 homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF435925			KGB	84059	Hs.482811			American journal of human genetics. 2004 Feb;74(2):357-66	Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.		602851	6846	1	2004												
130203		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	X	Xp11.23	MAOB	43510800	43626625		Johnstone, E. C.  et al. 2002	12360111				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Pharmacogenetics. 2002 Oct;12(7):585-7	Polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers: seekingconfirmation of the association in a follow-up study		309860	26397	2	2002	In conclusion, we cannot confirm earlier finding that genetic variations in enzymes that metabolize dopamine are important in determining the tobacco consumption of smokers. There was a tendency for people with the DBH-1368A allele (which was related to higher tobacco consumption in the exploratory study) to smoke more, but this effect did not reach statistical significance in the larger sample.	Cohort 1,749 smokers from the OXCHECK study 	smoking (tobacco)									
130204		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Batra, V.  et al. 2003	12740294				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		309860	27542	2	2003	Review article											
130206		diabetes, type 2; liver disease	OTHER	OTH	Hepatitis, Toxic|Diabetes Mellitus, Type 2	X	Xp11.23	MAOB	43510800	43626625		Watanabe, I.  et al. 2003	12732844				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Japanese	Japan	CDC GDPinfo	4129	Hs.46732			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		309860	28613	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
130199	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Parsian, A.  et al. 2004	14962671				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Genomics. 2004 Mar;83(3):454-60	Association of variations in monoamine oxidases A and B with Parkinson's disease subgroups		309860	22824	2	2004	The frequency of common haplotypes from MAO-A and -B was different in PD and control group (p = 0.02). Our data indicate that MAO-A and -B may play a role in susceptibility to PD in our sample.	Control:180 matched normal controls;Case:96/164 patients with familial (n=96) and sporadic (n=164) Parkinson's disease patients										
130200	N	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.23	MAOB	43510800	43626625		Zammit, S.  et al. 2004	15211623				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):19-20	Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophrenia		309860	25217	2	2004	These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior.	Cohort 150 individuals Cohort 346 subjects with schizophrenia 										
130202	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Kelada, S. N.  et al. 2002	12428723				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Neurotoxicology. 2002 Oct;23(5-Apr):515-9	Gender difference in the interaction of smoking and monoamine oxidase B intron 13 genotype in Parkinson's disease		309860	25219	2	2002	These results suggest that a strong gender difference exists with respect to the modifying effect of MAO-B genotype on the smoking association with PD.	Case:186 incident idiopathic Parkinson's disease cases;Control:296 age- and gender-matched controls	smoking (tobacco)									
130196	N	migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders	X	Xp11.23	MAOB	43510800	43626625		Filic, V.  et al. 2005	15694196				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Journal of the neurological sciences. 2005 Feb;228(2):149-53	Monoamine oxidases A and B gene polymorphisms in migraine patients.		309860	22821	2	2005	We have found a tendency toward association of the shorter variant of MAO-A gene promoter with migraine without aura in male subjects. Regarding investigated MAO-B polymorphism, no association with migraine or with platelet MAO-B activity was found. The suggestive association of the variant in MAO-A gene with migraine is considered worthy of independent replication. On the other hand, further studies on MAO-B polymorphism in migraine do not seem promising.	Case:110 migraineours;migraine without aura (n=80) and migraine with aura (n=30);Control:150:controls										
130197	N	mood disorder	PSYCH	PSY	Mood Disorders	X	Xp11.23	MAOB	43510800	43626625		Lin, S.  et al. 1999	11715502				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Chinese		CDC GDPinfo	4129	Hs.46732			Zhonghua yi xue za zhi. 1999 Dec;79(12):897-9	Genetic association between mood disorder and monoamine oxidase gene		309860	22822	2	1999	 MAO gene (type A and B) is not associated with mood disorder in the Chinese.	Control not specified in abstract;Case:132 cases of Chinese with mood disorder										
130198		restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Desautels, A.  et al. 2002	12136060				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Neurology. 2002 Jul;59(2):215-9	Evidence for a genetic association between monoamine oxidase A and restless legs syndrome.		309860	22823	2	2002	 The high activity allele of the MAOA gene may represent a modifying factor involved in the severity of RLS manifestations in females.	Control:200 control subjects matched for ethnic background;Case:96 extensively characterized patients with restless legs syndrome										
130193		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Shao, M.  et al. 2001	11295131				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Zhonghua yi xue yi chuan xue za zhi. 2001 Apr;18(2):122-4	[Polymorphism of MAO-B gene and NAD(P)H: quinoneoxidoreductase gene in Parkinson's disease]		309860	22818	2	2001	 The cDNA 609T allele of NQO1 gene might be a risk factor of PD, which could be associated with the genetic susceptibility of PD. The high activity A or AA genotype of MAO-B and the low activity genotype of NQO1 gene might have synergistic effect. When both genotypes coexist, the risk of suffering PD will be increased greatly.	Case:126 Parkinson's disease patients;Control:136 healthy control subjects matched for age, sex and:origin										
130194		smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Costa-Mallen, P.  et al. 2005	15955630				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3		Washington	CDC GDPinfo	4129	Hs.46732			Neuroscience letters. 2005 Sep;385(2):158-62	Genotype combinations for monoamine oxidase-B intron 13 polymorphism and dopamine D2 receptor TaqIB polymorphism are associated with ever-smoking status among men.		309860	22819	2	2005			smoking (tobacco)									
130195		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Takehashi, M.  et al. 2002	12098640				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Neuroscience letters. 2002 Jul;327(2):79-82	Association of monoamine oxidase A gene polymorphism with Alzheimer's disease and Lewy body variant.		309860	22820	2	2002	These results suggest that polymorphisms within the MAOA gene may have implication in AD pathology shared by pure AD and LBV.	Case patients with Parkinson's disease (PD), Alzheimer's disease (AD), and Lewy body variant (LBV) of AD:Cohort:controls										
130190	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Bialecka, M.  et al. 2005	15753616				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Polish	Poland	CDC GDPinfo	4129	Hs.46732			European neurology. 2005 ;53(2):68-73	Catechol-O-methyltransferase and monoamine oxidase B genes and susceptibility to sporadic Parkinson's disease in a Polish population.		309860	22815	2	2005	The combined haplotype of the MAOB G (G/G) and COMT(HL) genotype showed a fourfold increase (p < 0.05) in the risk of PD in female patients in this Polish population.	Control:152 healthy controls;Case:210 Polish patients with sporadic Parkinsons' disease										
130191	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Goudreau, J. L.  et al. 2002	12465073				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3		Midwestern United States	CDC GDPinfo	4129	Hs.46732			Movement disorders. 2002 Nov;17(6):1305-11	Case-Control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease		309860	22816	2	2002	We found statistically significant associations of PD with MAO-B polymorphisms in older patients and with a COMT polymorphism in younger subjects and in women. These significant differences at the two-tailed alpha level of 0.05 and restricted to subgroup analyses may have a biological basis or may be chance findings.	Control:196 control subjects;Case:319 unrelated Parkinson's disease cases										
130192		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression	X	Xp11.23	MAOB	43510800	43626625		Lynch, D. R.  et al. 2003	12815660				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Movement disorders. 2003 Jul;18(7):804-12	Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.		309860	22817	2	2003	These results demonstrate that these specific genetic variations do not alter the fidelity of (99)Tc-TRODAT-1 as a measure of dopaminergic function in asymptomatic volunteer individuals or patients with PD.	Case patients with Parkinsons' disease;Control asymptomatic volunteers										
130186		smoking behavior	CHEMDEPENDENCY	CHEM	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Scott, W. K.  et al. 2005	15699372				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Neurology. 2005 Feb;64(3):442-7	Family-based case-control study of cigarette smoking and Parkinson disease.		309860	18573	2	2005	 Consistent with previous studies, individuals with Parkinson disease are significantly less likely to have smoked regularly than their unaffected siblings. This association was detected even though discordant sibling pairs are more likely to be overmatched for environmental exposures than unmatched case and control groups.	Case:143 individuals with Parkinson's disease;Control:168 sibling controls	Parkinson									
130188	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Hernan, M. A.  et al. 2002	12011284				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3		United States	CDC GDPinfo	4129	Hs.46732			Neurology. 2002 May;58(9):1381-7	MAOB intron 13 and COMT codon 158 polymorphisms, cigarette smoking, and the risk of PD		309860	22813	2	2002	 The findings do not support a major role of the MAOB intron 13 polymorphism in the development of PD, either by itself or by interacting with smoking.	Case:214 Caucasian cases from two ongoing prospective cohorts, the Nurses' Health Study and the Health Professionals' Follow-up Study;Control:449 Caucasian controls fro same prospective cohorts, matched on age and study cohort	smoking (tobacco)									
130189		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Bialecka, M.  et al. 2004	15355491				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Acta neurologica Scandinavica. 2004 Oct;110(4):260-6	The effect of monoamine oxidase B (MAOB) and catechol-O-methyltransferase (COMT) polymorphisms on levodopa therapy in patients with sporadic Parkinson's disease		309860	22814	2	2004	 The results of the study suggest that patients with COMT(L/L) genotype and possibly MAOB genotype A may benefit from more efficient and safer levodopa therapy.	Cohort 95 patients (40 females and 55 males) of Polish origin diagnosed with sporadic Parkinson's disease 	levodopa									
130183		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Tan, E. K.  et al. 2003	12815741				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Caucasian	Singapore	CDC GDPinfo	4129	Hs.46732			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):58-62	Monoamine oxidase B polymorphism, cigarette smoking and risk of Parkinson's disease: a study in anAsian population.		309860	12302	2	2003	The MAO B G/A genotype frequency in our Asian population was quite different from Caucasians suggesting that ethnicity specific effects need to be considered in evaluating gene-environmental interaction.	Case:130 Asian Parkinson's disease patients;Control:241 age, gender, and race matched controls	smoking (tobacco)									
130184		Parkinson's disease	NEUROLOGICAL	NEUR		X	Xp11.23	MAOB	43510800	43626625		Chan, D. K.  et al. 2003	12763335				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Chinese		CDC GDPinfo	4129	Hs.46732			Journal of clinical neuroscience. 2003 May;10(3):313-5	Genetic and environmental risk factors and their interactions for Parkinson's disease in a Chinese population		309860	18137	2	2003	The significance of this finding is unclear as the study may be limited because of its marginal significance and limited numbers. However, it does demonstrate the importance of considering putative positive and negative environmental risk factors in any examination of genetic risk factors for PD.	Cohort a Chinese population 	tea									
130185		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Costa-Mallen, P.  et al. 2004	14743364			promoter	Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Movement disorders. 2004 Jan;19(1):76-83	DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.		309860	18138	2	2004	No commonly occurring (>10%) polymorphisms were found in the exons or the intronic sequences flanking the exons, although several rare variants were detected in the coding and promoter regions.	Case:33 idiopathic Parkinson's disease patients;Control:38 unrelated controls										
130179	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Kurth JH et al. 1993	8489207				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			KGB	4129	Hs.46732			Annals of neurology. 1993 Apr;33(4):368-72	Association of a monoamine oxidase B allele with Parkinson's disease.		309860	4445	1	1993												
130181	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Costa P et al. 1997	9129714			intron	Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			KGB	4129	Hs.46732			American journal of medical genetics. 1997 Apr;74(2):154-6	Association of a polymorphism in intron 13 of the monoamine oxidase B gene with Parkinson disease.		309860	4447	1	1997												
130182	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Mellick GD et al. 1999	10091612				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3		New South Wales|Queensland	KGB	4129	Hs.46732			Movement disorders. 1999 Mar;14(2):219-24	Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease.		309860	4448	1	1999												
130175		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lerman, C.  et al. 2003	12627466				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		309850	28081	2	2003	Review article											
130176		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Ho SL et al. 1995	7695241				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			KGB	4129	Hs.46732			Annals of neurology. 1995 Mar;37(3):403-5	An allelic association study of monoamine oxidase B in Parkinson's disease.		309860	4442	1	1995												
130177		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Morimoto Y et al. 1995	8825899				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Japanese	Japan	KGB	4129	Hs.46732			American journal of medical genetics. 1995 Dec;60(6):570-2	Association analysis of a polymorphism of the monoamine oxidase B gene with Parkinson's disease in a Japanese population.		309860	4443	1	1995												
130178	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625	n	Nanko S et al. 1996	8929994				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			KGB	4129	Hs.46732			Neuroscience letters. 1996 Feb;204(2-Jan):125-7	No association between Parkinson's disease and monoamine oxidase A and B gene polymorphisms.		309860	4444	1	1996												
130171		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lerer, B.  et al. 2002	12366879				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		309850	27087	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
130172		nicotine dependence; cotinine	CHEMDEPENDENCY	CHEM		X	Xp11.4-p11.3	MAOA	43400352	43491012		Huang, S.  et al. 2005	16272956				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Pharmacogenetics and genomics. 2005 Dec;15(12):839-50	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.		309850	27088	2	2005	 CYP2A6 haploinsufficiency increases likelihood of continuing smoking in teenagers. We hypothesize an explanatory 'occupancy' model to explain why haploinsufficiency results in faster progression to nicotine dependence, but lower subsequent consumption.											
130173	N	bipolar disorder; major depressive disorder; rapid cycling mood disorder	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Cusin, C.  et al. 2002	11992560				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.		309850	27089	2	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
130167		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Hemmings, S. M.  et al. 2003	12650952				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			European neuropsychopharmacology. 2003 Mar;13(2):93-8	Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.		309850	26394	2	2003	Although no statistically significant genotypic or allelic associations were detected, the data yielded interesting preliminary results that warrant further discussion and investigation.	Control:129 control individuals;Case:71 obsessive compulsive disorder patients in the genetically homogeneous Afrikaner population										
130169	N	self-harm behavior	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Pooley, E. C.  et al. 2003	12877392				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		309850	26396	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
130170		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Batra, V.  et al. 2003	12740294				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		309850	27086	2	2003	Review article											
130164	N	bipolar disorder; major depressive disorder	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Serretti, A.  et al. 2002	11992559				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3variants.		309850	25215	2	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months 	lithium									
130165		depression	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Eley, T. C.  et al. 2004	15241435				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2004 Oct;9(10):908-15	Gene-environment interaction analysis of serotonin system markers with adolescent depression.		309850	25216	2	2004	HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.	Cohort 377 adolescents selected from 1990 adolescents aged 10-20 years 										
130166	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	X	Xp11.4-p11.3	MAOA	43400352	43491012		Diaz-Anzaldua, A.  et al. 2004	15094788				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Canadian	Quebec	CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2004 Mar;9(3):272-7	Tourette syndrome and dopaminergic genes: afamily-based association study in the French Canadian founder population.		309850	26393	2	2004	These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.	Cohort 110 French Canadian Tourette syndrome patients 										
130161		schizophrenia; psychoses; aggressive behavior; verbal fluency	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012			15341275				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Genetika. 2004 Jun;40(6):841-5	[Polymorphism of the serotonin system genes in some Finno-Ugric populations]		309850	22811	2	2004	These results obtained indicate the prevalence of the site gain alleles of the EcoRV and Fnu4HI RFLP loci at the MAO-A gene in Komis and the of the corresponding site loss alleles in Khants.	Cohort Khant and Komi ehtnic groups 										
130162		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Johnstone, E. C.  et al. 2002	12360111				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Pharmacogenetics. 2002 Oct;12(7):585-7	Polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers: seekingconfirmation of the association in a follow-up study		309850	25213	2	2002	In conclusion, we cannot confirm earlier finding that genetic variations in enzymes that metabolize dopamine are important in determining the tobacco consumption of smokers. There was a tendency for people with the DBH-1368A allele (which was related to higher tobacco consumption in the exploratory study) to smoke more, but this effect did not reach statistical significance in the larger sample.	Cohort 1,749 smokers from the OXCHECK study 	smoking (tobacco)									
130163		shyness	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Arbelle, S.  et al. 2003	12668354				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			The American journal of psychiatry. 2003 Apr;160(4):671-6	Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism.		309850	25214	2	2003	 This study provisionally identifies a common genetic polymorphism, 5-HTTLPR, that modestly (effect size=7%) contributed to greater shyness scores in a nonclinical group of second-grade students. These first findings may be relevant to previous reports that have shown an association between the 5-HTTLPR long form and obsessive-compulsive disorder and autism.	Cohort 98 second-grade children 										
130157		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kelada, S. N.  et al. 2002	12428723				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neurotoxicology. 2002 Oct;23(5-Apr):515-9	Gender difference in the interaction of smoking and monoamine oxidase B intron 13 genotype in Parkinson's disease		309850	22807	2	2002	These results suggest that a strong gender difference exists with respect to the modifying effect of MAO-B genotype on the smoking association with PD.	Case:186 incident idiopathic Parkinson's disease cases;Control:296 age- and gender-matched controls	smoking (tobacco)									
130158		mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012			16319504				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2005 Nov;53(1):16-Sep	Temperament and Character in Mood Disorders:Influence of DRD4, SERTPR, TPH and MAO-A Polymorphisms		309850	22808	2	2005												
130159		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Maron, E.  et al. 2005	15670397				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			The international journal of neuropsychopharmacology. 2005 Jun;8(2):261-6	Associations between serotonin-related gene polymorphisms and panic disorder.		309850	22809	2	2005	These findings indicate that genetic variants conceivably related to lower 5-HT neurotransmission may be involved in the development of PD.	Case:158 patients with panic disorder;Control:215 healthy controls										
130153	N	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Zammit, S.  et al. 2004	15211623				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):19-20	Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophrenia		309850	22803	2	2004	These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior.	Cohort 150 individuals Cohort 346 subjects with schizophrenia 										
130154	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Matsumoto, C.  et al. 2004	15261699				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychiatry research. 2004 Jun;127(2-Jan):7-Jan	Polymorphisms of dopamine degradation enzyme (COMT and MAO) genes and tardive dyskinesia in patients with schizophrenia.		309850	22804	2	2004	Our data, therefore, do not support the hypothesis that polymorphisms in COMT, MAOA, and MAOB genes are involved individually or in combination in the predisposition to TD.	Cohort 206 Japanese patients with schizophrenia 										
130155	Y	anxiety disorder	PSYCH	PSY	Anxiety Disorders|Phobic Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Samochowiec, J.  et al. 2004	15450911				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychiatry research. 2004 Aug;128(1):21-6	Association studies of MAO-A, COMT, and 5-HTT genes polymorphisms in patients with anxiety disorders of the phobic spectrum		309850	22805	2	2004	The results support a possible role of the MAO-A gene in anxiety disorders.	Case:101 patients with phobic disorders of the anxiety:spectrum;Control:202 controls matched to the patients for sex, age and:ethnicity										
130150	Y	neuroticism	PSYCH	PSY	Diseases in Twins|Neurotic Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Eley, T. C.  et al. 2003	12815746				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):90-6	Association analysis of MAOA and COMT with neuroticism assessed by peers.		309850	22800	2	2003	We found weak evidence for association with COMT genotype, when the females and males were considered separately, and for MAOA genotype in males only. There was no significant interaction between COMT and MAOA.	Case:57 individuals of 2,085 scoring the top 10% on a neruoticism peer- reported questionnaire;Control:62 individuals of 2,085 scoring the bottom 10% on a neruoticism peer- reported questionnaire										
130151	N	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Illi, A.  et al. 2003	14520117				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Journal of clinical psychopharmacology. 2003 Oct;23(5):429-34	Catechol-O-methyltransferase and monoamine oxidase A genotypes and drug response to conventional neuroleptics in schizophrenia.		309850	22801	2	2003	The whole population of patients with schizophrenia did not differ from the controls.The low-activity catechol-O-methyltransferase genotype may be associated with unsatisfactory drug response to conventional neuroleptics or alternatively be involved in a subset of schizophrenics. The role of monoamine oxidase A genotype seems to be additive in this respect.	Control:94 age-matched and gender-matched blood donors;Case:94 schizophrenic patients	neuroleptic response									
130152	N	suicide	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		De Luca, V.  et al. 2005	15936529				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuroscience letters. 2005 Jul;383(2-Jan):151-4	Gene-gene interaction between MAOA and COMT in suicidal behavior.		309850	22802	2	2005	These findings suggest that MAOA and COMT genes may not influence suicidal behavior in patients with bipolar disorder.	Cohort 305 families with at least one member having bipolar disorder 										
130146		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Nishimura, A. L.  et al. 2005	16186632				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Brazil	CDC GDPinfo	4128	Hs.183109			Journal of molecular neuroscience. 2005 ;27(2):213-7	Monoamine oxidase a polymorphism in brazilian patients: risk factor for late-onset Alzheimer'sdisease?		309850	22796	2	2005												
130148	N	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Norton, N.  et al. 2002	12116182				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2002 Jul;114(5):491-6	Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association orepistasis.		309850	22798	2	2002	Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia.	Control:173 controls (COMT genotyping only);Case:177 schizphrenics (COMT genotyping only);Control:334:controls;Case:346:schizophrenics										
130149		monoamine metabolites	METABOLIC	MET	Mental Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Zalsman, G.  et al. 2004	15457497				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Caucasian		CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):100-3	Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report.		309850	22799	2	2004	The association of MAOA-uVNTR with dopaminergic activity in males is a preliminary finding that needs to be replicated in a larger sample of Caucasian males and relationships sought with clinical phenotypes.	Cohort 98 Caucasian psychiatric subjects 										
130142		criminal behavior	PSYCH	PSY	Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Nilsson, K. W.  et al. 2005	16125147				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Biological psychiatry. 2006 Jan;59(2):121-7	Role of Monoamine Oxidase A Genotype and Psychosocial Factors in Male Adolescent Criminal Activity.		309850	18134	2	2005	 The findings support the notion that genotype and psychosocial factors interact to precipitate male adolescent criminal behavior.											
130144		impulsive behavior	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Passamonti, L.  et al. 2005	16202396				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Biological psychiatry. 2005	Monoamine Oxidase-A Genetic Variations Influence Brain Activity Associated with Inhibitory Control:New Insight into the Neural Correlates of Impulsivity.		309850	18136	2	2005	 These data suggest that a specific genetic variation involving serotonergic catabolism can modulate BOLD response associated with human impulsivity.											
130145	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Yoshida, K.  et al. 2002	12502014				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Japanese		CDC GDPinfo	4128	Hs.183109			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Dec;26(8-Jul):1279-83	Monoamine oxidase: A gene polymorphism, tryptophanhydroxylase gene polymorphism and antidepressant response to fluvoxamine in Japanese patients with major depressive disorder.		309850	19976	2	2002	The present study fails to demonstrate that the genetic polymorphisms of MAOA-VNTR and TPH-A218C affect the antidepressant effect of fluvoxamine in Japanese patients with major depressive disorder.	Cohort 54 Japanese patients with major depressive disorder 	fluvoxamine									
130138	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Parsian, A.  et al. 2004	14962671				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Genomics. 2004 Mar;83(3):454-60	Association of variations in monoamine oxidases A and B with Parkinson's disease subgroups		309850	18129	2	2004	The frequency of common haplotypes from MAO-A and -B was different in PD and control group (p = 0.02). Our data indicate that MAO-A and -B may play a role in susceptibility to PD in our sample.	Control:180 matched normal controls;Case:96/164 patients with familial (n=96) and sporadic (n=164) Parkinson's disease patients										
130139	N	antisocial personality disorder	PSYCH	PSY	Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Haberstick, B. C.  et al. 2005	15806601				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):59-64	Monoamine oxidase A (MAOA) and antisocial behaviors in the presence of childhood and adolescent maltreatment.		309850	18130	2	2005	MAOA genotype did not have a significant moderating effect in any of the six analyses that were conducted. We did not replicate a previous report that MAOA polymorphisms moderated the relationship between maltreatment and conduct problems. There was, however, a non-significant trend in the predicted direction. Additional studies will be needed before firm conclusions can be drawn about this hypothesized genotype-environment interaction.	Cohort sibling-pairs from the National Longitudinal Study of Adolescent Health 										
130140	Y	personality disorders	PSYCH	PSY	Personality Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jacob, C. P.  et al. 2005	15870836				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychopharmacology. 2005 Sep;30(9):1711-8	Cluster B Personality Disorders are Associated with Allelic Variation of Monoamine Oxidase A Activity		309850	18131	2	2005	Our findings further support the notion that allelic variation of MAOA activity contributes modestly to the balance of hyper- (impulsive-aggressive) and hyporeactive (anxious-depressive) traits.	Control:281 healthy controls;Case:566 patients with personality disorders										
130135		panic disorder	PSYCH	PSY	Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Sand, P.  et al. 2000	12607224				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			The world journal of biological psychiatry. 2000 Jul;1(3):147-50	Polymorphic MAO-A and 5-HT-transporter genes:analysis of interactions in panic disorder.		309850	18124	2	2000	There was no significant difference in odds ratios, suggesting that the observed increase of genetic liability by the long MAO-A gene promoter allele is not modified by the 5-HTT gene promoter polymorphism.	Case:144 German and Italian panic disorder patients;Control:175 German and Italian controls										
130136	Y	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jonsson, E. G.  et al. 2003	12648733			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Swedish		CDC GDPinfo	4128	Hs.183109			Schizophrenia research. 2003 May;61(1):31-7	Association between a promoter variant in the monoamine oxidase A gene and schizophrenia.		309850	18125	2	2003	The present results support the involvement of the MAOA gene in men with schizophrenia in the investigated Swedish population but should be interpreted with caution until replicated.	Case:133 schizophrenic patients:Sweden;Control:377 control subjects										
130137	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lu, R. B.  et al. 2003	12824808				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese	Taiwan	CDC GDPinfo	4128	Hs.183109			Alcoholism, clinical and experimental research. 2003 Jun;27(6):889-93	Neither antisocial personality disorder nor antisocial alcoholism is associated with the MAO-A gene in Han Chinese males.		309850	18127	2	2003	 No significant association was observed between these two polymorphisms and antisocial personality disorder with alcoholism, either individually or for the haplotype, or for antisocial personality disorder without alcoholism. Thus, neither antisocial alcoholism nor antisocial personality disorder was associated with the genetic variants of MAO-A gene.	Control:38 males without either disorder as a jail control;Case:41/50 Chinese Han males recruited from jails in Taipei:Taipei										
130132	N	attention deficit disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lawson, D. C.  et al. 2003	12497620				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):84-9	Association analysis of monoamine oxidase A and attention deficit hyperactivity disorder.		309850	18121	2	2003	Using case control analysis and then the TDT, no association was found between these two MAOA polymorphisms and ADHD. Case control analysis of the VNTR showed an association with a subgroup of children with comorbid conduct problems (OR = 2.0, 95% CI = 1.09, 3.5), and TDT analysis indicated a statistical trend toward association. Our findings highlight the importance of phenotype definition and the need for the MAOA VNTR to be further examined.	Control:controls;Case:171 British Caucasian children 6-16 years of age fulfilling DSM-III R, DSM-IV or ICD-10 criteria for ADHD/Hyperkinetic Disorder										
130133	Y	anxiety disorder; depressive disorder, major; panic disorder	PSYCH	PSY	Anxiety Disorders|Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Tadic, A.  et al. 2003	12555227				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):6-Jan	Association of a MAOA gene variant with generalized anxiety disorder, but not with panic disorder or major depression.		309850	18122	2	2003	This is the first study specifically analyzing the MAOA G941T polymorphism in GAD and thus needs to be replicated in an independent sample. However, the results are in line with previous data suggesting an association between the MAOA locus and regulation of complex human behavior.	Control:276 unrelated healthy individuals;Case:50/38/108 generalized anxiety disorder (n=50), panic disorder (n=38) and major depression (n=108) patients										
130134		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012		Parsian, A.  et al. 2003	12555234			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):46-50	Functional variation in promoter region of monoamine oxidase A and subtypes of alcoholism:haplotype analysis.		309850	18123	2	2003	Our results indicate that MAO-A may play a role in the development of alcoholism but the gene effect is very small.	Case:alcoholics;Control normal controls										
130128	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lu, R. B.  et al. 2002	11999895				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese	Taiwan	CDC GDPinfo	4128	Hs.183109			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Apr;26(3):457-61	No association of the MAOA gene with alcoholism among Han Chinese males in Taiwan		309850	18116	2	2002	This finding suggests that no association exists between genetic variation at the MAOA locus and alcoholism in Chinese Han males.	Case:214 male Chinese alcoholics northern Taiwan;Control:77 controls without history of alcoholism:Taipei										
130129	Y	restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Desautels, A.  et al. 2002	12136060				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neurology. 2002 Jul;59(2):215-9	Evidence for a genetic association between monoamine oxidase A and restless legs syndrome.		309850	18117	2	2002	 The high activity allele of the MAOA gene may represent a modifying factor involved in the severity of RLS manifestations in females.	Control:200 control subjects matched for ethnic background;Case:96 extensively characterized patients with restless legs syndrome										
130131		antisocial behavior	PSYCH	PSY	Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Caspi, A.  et al. 2002	12161658				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Science. 2002 Aug;297(5582):851-4	Role of genotype in the cycle of violence in maltreated children.		309850	18119	2	2002	These findings may partly explain why not all victims of maltreatment grow up to victimize others, and they provide epidemiological evidence that genotypes can moderate children's sensitivity to environmental insults.											
130124	N	personality traits	PSYCH	PSY	Lung Neoplasms|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Hakamata, Y.  et al. 2005	16139427			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Japanese	Japan	CDC GDPinfo	4128	Hs.183109			Neuroscience letters. 2005 Dec;389(3):121-3	No association between monoamine oxidase A promoter polymorphism and personality traits in Japanese females.		309850	12296	2	2005												
130125	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jin, Y.  et al. 2005	16207390				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese		CDC GDPinfo	4128	Hs.183109			The international journal of neuropsychopharmacology. 2005	Association between monoamine oxidase gene polymorphisms and smoking behaviour in Chinese males.		309850	12298	2	2005												
130126		obsessive-compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Camarena, B.  et al. 2001	11353450				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2001 Apr;105(3):279-82	Additional evidence that genetic variation of MAO-A gene supports a gender subtype in obsessive-compulsive disorder.		309850	18113	2	2001	our findings may provide molecular evidence to identify a clinically meaningful gender subtype. However, an effort should be made to replicate the analysis in larger samples of informative parents using strategies such as transmission disequilibrium test to allow definite conclusions.	Case:122 obsessive-compulsive disorder patients;Control:124 healthy subjects										
130127	N	mood disorder	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lin, S.  et al. 1999	11715502				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese		CDC GDPinfo	4128	Hs.183109			Zhonghua yi xue za zhi. 1999 Dec;79(12):897-9	Genetic association between mood disorder and monoamine oxidase gene		309850	18114	2	1999	 MAO gene (type A and B) is not associated with mood disorder in the Chinese.	Control not specified in abstract;Case:132 cases of Chinese with mood disorder										
130120	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Guindalini, C.  et al. 2005	15900229				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Brazil	CDC GDPinfo	4128	Hs.183109			Psychiatric genetics. 2005 Jun;15(2):141-4	Association of MAO A polymorphism and alcoholism in Brazilian females.		309850	12292	2	2005	Our results suggest that this monoamine oxidase A polymorphism could play a role in susceptibility to alcoholism, which may differ across sexes.	Control:93 sex-matched normal controls;Case:93 alcohol-dependent patients (51 males, 42 females):Brazil										
130121		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	X	Xp11.4-p11.3	MAOA	43400352	43491012		Yu, Y. W.  et al. 2005	15956990			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychopharmacology. 2005 Sep;30(9):1719-23	Association study of a monoamine oxidase a gene promoter polymorphism with major depressive disorder and antidepressant response.		309850	12293	2	2005												
130122		cognitive function	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Yu, Y. W.  et al. 2005	15990460	MAOA-uVNTR			Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2005 ;52(2):77-82	Association study of a functional MAOA-uVNTR gene polymorphism and cognitive function in healthy females.		309850	12294	2	2005												
130123		personality traits	PSYCH	PSY	Neurotic Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Yu, Y. W.  et al. 2005	16110245	MAOA-uVNTR			Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese		CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2005 ;52(3):118-21	Association study of a functional MAOA-uVNTR gene polymorphism and personality traits in Chinese young females.		309850	12295	2	2005												
130117		alcohol abuse	CHEMDEPENDENCY	CHEM		X	Xp11.4-p11.3	MAOA	43400352	43491012		Herman, A. I.  et al. 2005	15635592			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):74-8	Serotonin transporter promoter polymorphism and monoamine oxidase type A VNTR allelic variants together influence alcohol binge drinking risk in young women.		309850	12289	2	2005	These results support the hypothesis that binge drinking behavior in young adulthood may be influenced by neurobiological differences in serotonergic function conferred by functional polymorphisms in genes involved in serotonin processing.	Cohort 412 college students 										
130118	N	migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Filic, V.  et al. 2005	15694196				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Journal of the neurological sciences. 2005 Feb;228(2):149-53	Monoamine oxidases A and B gene polymorphisms in migraine patients.		309850	12290	2	2005	We have found a tendency toward association of the shorter variant of MAO-A gene promoter with migraine without aura in male subjects. Regarding investigated MAO-B polymorphism, no association with migraine or with platelet MAO-B activity was found. The suggestive association of the variant in MAO-A gene with migraine is considered worthy of independent replication. On the other hand, further studies on MAO-B polymorphism in migraine do not seem promising.	Case:110 migraineours;migraine without aura (n=80) and migraine with aura (n=30);Control:150:controls										
130119	Y	cytogenetic studies	OTHER	OTH		X	Xp11.4-p11.3	MAOA	43400352	43491012		Lung, F. W.  et al. 2005	15722955			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychiatric genetics. 2005 Mar;15(1):31-5	Telomeric length varies with age and polymorphisms of the MAOA gene promoter in peripheral blood cells obtained from a community in Taiwan.		309850	12291	2	2005	 Central nervous system serotonergic activity correlates with human aggressive behavior and depression in many studies, and the MAOA promoter gene may also serve as a clinical marker in the treatment of cardiovascular disease. The predictive model and table of telomere length presented in this study will provide a quick reference for future studies.	Cohort 441 of 1,231individuals from a random houshold sample who agreed to have blood drawn for DNA study southern Taiwan 										
130114		aggressive behavior	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Li, F. Z.  et al. 2004	15498245				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Sep;38(5):321-3	[Association between the functional monoamine oxidase A gene polymorphism and aggressively driving behavior.]		309850	12286	2	2004	 Aggressively driving behavior in drivers possibly related to their functional MAOA-uVNTR polymorphism. Effect of the gene on aggressively driving behavior should be further studied.	Cohort 348 automobile drivers 										
130115	N	auditory evoked potentials	OTHER	OTH		X	Xp11.4-p11.3	MAOA	43400352	43491012		Yu, Y. W.  et al. 2004	15539858				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2004 ;50(4):288-91	Association analysis for MAOA gene polymorphism with long-latency auditory evoked potentials in healthy females.		309850	12287	2	2004	Our negative findings suggested that this genetic polymorphism does not play a major role in the modulation of AEPs in normal young females, but we could not exclude that other polymorphisms of the MAOA gene affect AEP components. Further exploration of the other polymorphisms of the MAOA gene and multiple interactions of the polymorphisms in various neurotransmitter systems may be needed in future studies.	Cohort 234 normal young Chinese females 										
130116	Y	depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Gutierrez, B.  et al. 2004	15564894			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychiatric genetics. 2004 Dec;14(4):203-8	Association analysis between a functional polymorphism in the monoamine oxidase A gene promoter and severe mood disorders.		309850	12288	2	2004	Our results suggest that MAOA gene variation may modulate the expression of some clinical aspects of severe mood disorders, especially in females, and support the existence of a genetic and aetiologic heterogeneity underlying the diagnoses of bipolar disorder and major depression.	Control:156:controls;Case:389 unrelated patients affected by severe mood disorders (88 bipolar subjects and 301 major depressive individuals)										
130111		personality disorders	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Samochowiec, J.  et al. 2004	15292674				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2004 ;50(2):174-81	Polymorphisms in the Serotonin Transporter and Monoamine Oxidase and Their Relationship to Personality Traits Measured by the and Character Inventory and NEO Five-Factor Inventory in Healthy Volunteers		309850	12281	2	2004	Our results do not confirm the hypothesis that there is a simple correlation between single gene polymorphisms and a personality trait measured by the TCI and NEO-FFI scales.	Cohort 100 One hundred healthy volunteers(without psychiatric disorders) were recruited to represent a cross-section of the population of Szczecin (Poland) in terms of sex, age and education Poland 										
130112	Y	panic disorder	PSYCH	PSY	Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Maron, E.  et al. 2004	15346539				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			The world journal of biological psychiatry. 2004 Jul;5(3):149-54	Association between Serotonin-related Genetic Polymorphisms and CCK-4-induced Panic Attacks with or without 5-hydroxytryptophan Pretreatment in Healthy Volunteers		309850	12282	2	2004	These data suggest that functional genetic polymorphisms of the 5-HT system may influence the vulnerability to panic attacks and add to the growing evidence of inhibitory function of 5-HT in the neuronal circuitry of panic.	Cohort 32 healthy volunteers 										
130113	Y	sleep disorders; depressive disorder, major	PSYCH	PSY	Sleep Disorders|Genetic Predisposition to Disease|Depressive Disorder, Major	X	Xp11.4-p11.3	MAOA	43400352	43491012		Du, L.  et al. 2004	15486489				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuroreport. 2004 Sep;15(13):2097-101	MAO-A gene polymorphisms are associated with major depression and sleep disturbance in males.		309850	12285	2	2004	These data suggest that the EcoRV and uVNTR polymorphisms may be involved in the pathogenesis of major depression and associated with insomnia in depressed patients.	Case:191 patients with major depression;Control:233:controls										
130108	N	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Marziniak, M.  et al. 2004	15088153				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			J Neural Transm. 2004 May;111(5):603-9	Association analysis of the functional monoamine oxidase A gene promotor polymorphism in migraine.		309850	12276	2	2004	These findings thus indicate that there is no association between the functional MAO-A-LPR and susceptibility to migraine.	Case:119 patients with migraine;Control:229:controls										
130109	Y	heroin addiction	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Gerra, G.  et al. 2004	15088154			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			J Neural Transm. 2004 May;111(5):611-21	Analysis of monoamine oxidase A (MAO-A) promoter polymorphism in male heroin-dependent subjects:behavioural and personality correlates.		309850	12277	2	2004	Our findings suggest that the low-activity 3-repeat allele of the MAO-A promoter polymorphism confers increased susceptibility to antisocial-violent behavior and aggressiveness, rather than drug dependence per se, in heroin-dependent males.	Case:104 Italian descent male heroin-dependent subjects including 52 addicted individuals with violent behaviour and antisocial personality disorder;Control:95 healthy subjects										
130110	Y	personality disorders	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Huang, Y. Y.  et al. 2004	15150530			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychopharmacology. 2004 Aug;29(8):1498-505	An association between a functional polymorphism in the monoamine oxidase a gene promoter, impulsive traits and early abuse experiences.		309850	12278	2	2004	The polymorphism may be a marker for impulsivity that in turn may contribute to the risk for abuse. This trait could then be further aggravated by abuse.	Control:104 healthy volunteers;Case:663 unrelated subjects with a psychiatric disorder										
130105		serotonin	NEUROLOGICAL	NEUR		X	Xp11.4-p11.3	MAOA	43400352	43491012		Williams, R. B.  et al. 2003	12629534				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychopharmacology. 2003 Mar;28(3):533-41	Serotonin-related gene polymorphisms and central nervous system serotonin function.		309850	12273	2	2003	These findings suggest that effects of serotonin-related gene polymorphisms on CNS serotonergic function vary as a function of both ethnicity and gender. Further research will be required to determine the mechanism(s) underlying these differential effects. In the meanwhile, both ethnicity and gender should be taken into account in research evaluating effects of these and related polymorphisms on CNS serotonergic function, as well as the broad range of biological and behavioral functions that are regulated by CNS serotonergic function.	Cohort 165 community volunteers without current medical or psychiatric illness 										
130106	Y	Parkinson's disease	NEUROLOGICAL	NEUR		X	Xp11.4-p11.3	MAOA	43400352	43491012		Jiang, X.  et al. 2003	12778446				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):211-4	[Relationship between the Fnu4HI site polymorphism of monoamine oxidase A gene and Parkinson's disease]		309850	12274	2	2003	 This study revealed significant differences between PD group and control group in allelic and genotypic frequencies. The findings supported the hypothesis about an association between MAO-A gene and PD, suggesting that age at onset of PD and gender predisposition might be related to the putative association, and Fnu4HI SNP be a risk factor for PD.	Case Parkinson's disease patients;Control:controls										
130107	Y	autism	PSYCH	PSY	Autistic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Cohen, I. L.  et al. 2003	12919132				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Clinical genetics. 2003 Sep;64(3):190-7	Association of autism severity with a monoamine oxidase A functional polymorphism.		309850	12275	2	2003	We conclude that  functional MAOA-uVNTR alleles may act as a genetic modifier of the severity of autism in males.	Cohort 41 autistic males younger than 12.6 years of age 										
130102	N	personality disorders	PSYCH	PSY	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Koller, G.  et al. 2003	12554604			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Alcohol and alcoholism (Oxford, Oxfordshire). 2003 Jan-Feb;38(1):31-4	No association between a polymorphism in the promoter region of the MAOA gene with antisocial personality traits in alcoholics.		309850	12270	2	2003	 Taken together, these findings suggest that the three-repeat allele of the MAOAuVNTR 30-bp polymorphism is not associated with impulsive and aggressive personality traits.	Case:169 German male alcoholic subjects;Control:72:controls										
130103	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Ito, H.  et al. 2003	12563176				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Japanese		CDC GDPinfo	4128	Hs.183109			Pharmacogenetics. 2003 Feb;13(2):73-9	Monoamine oxidase polymorphisms and smoking behaviour in Japanese.		309850	12271	2	2003	These findings among male smokers support the view that MAO affects a smokers' requirement for nicotine and may explain why some people are predisposed to tobacco addiction and why some individuals find it difficult to stop smoking.	Cohort 504 Japanese outpatients Japan 										
130104	N	personality disorders	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Garpenstrand, H.  et al. 2002	12566936			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Swedish		CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2002 ;46(4):190-3	A regulatory monoamine oxidase a promoter polymorphism and personality traits.		309850	12272	2	2002	We conclude that  the structure of this MAOA promoter region does not have a large impact on the expression of personality characteristics in the present Swedish population.	Cohort 371 healthy Caucasians 										
130099		suicide	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Du, L.  et al. 2002	12151768				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuroreport. 2002 Jul;13(9):1195-8	High activity-related allele of MAO-A gene associated with depressed suicide in males.		309850	12266	2	2002	Our finding suggests that MAO-A may be a susceptibility gene in depressed male suicide victims. The results thus provide further evidence that genetic factors can modulate risk for depression, suicide or both by influencing monoaminergic activity in sexually dimorphic manner.	Case:44 depressed suicide victims;Control:92 control subjects of the same ethnic background										
130100	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Xie, H.  et al. 2002	12170473				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese	China	CDC GDPinfo	4128	Hs.183109			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):329-31	[The EcoR V polymorphism of human monoamine oxidase A is not associated with idiopathic Parkinson's disease in a Shanghai Han population]		309850	12267	2	2002	 There may be racial difference in the distribution of the human MAO-A EcoR V (C/T) polymorphism, but the present research does not support the association between this variant and susceptibility to PD in Chinese Han population of Shanghai area.	Case:110 Parkinson's disease patients:Shanghai, China;Control:182 healthy controls										
130101	Y	pathologic gambling	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Perez de Castro, I.  et al. 2002	12399942				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2002 ;7(9):927-8	Concurrent positive association between pathological gambling and functional DNA polymorphisms at the MAO-A and the 5-HT transporter genes		309850	12269	2	2002	The aggregation of findings in the MAO-A and 5-HTT genes suggests that the concurrent presence of two of their functional variants plays an important role in the etiology of this disorder among the male patients analyzed in this study. Therefore, our results indicate that MAO-A and 5-HTT regulatory polymorphisms may contribute simultaneously to part of the genetic dimension of PG, although, and because of the genetic heterogeneity of this disorder, this may not be a universal finding for all cases of PG.	Control:68:Caucasiancontrols;Case:68 Caucasian pathological gamblers central Spain										
130096		alcoholism	CHEMDEPENDENCY	CHEM	Klinefelter Syndrome|Alcoholism|Aneuploidy|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Saito, T.  et al. 2002	11927135			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Finnish	Finland	CDC GDPinfo	4128	Hs.183109			Psychiatry research. 2002 Mar;109(2):113-9	Analysis of monoamine oxidase A (MAOA) promoter polymorphism in Finnish male alcoholics.		309850	12262	2	2002	Our results suggest a minimal association between the MAOA low activity promoter alleles and alcoholism, regardless of the presence or absence of antisocial behavior. Interestingly, approximately 3% of type 2 alcoholics were found to be heterozygous for the MAOA promoter polymorphism. Since MAOA is X-linked, the heterozygotes are probable cases of Klinefelter's syndrome (47,XXY) suggesting that X-chromosome aneuploidy may increase the risk for developing type 2 alcoholism.	Case type 1 and type 2 alcoholics:Finland;Control controls not ottherwise specified in abstract										
130097		aggressive behavior	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Gorbunova, E. V.  et al. 2002	11963571				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Genetika. 2002 Mar;38(3):419-21	[Investigation of monoamine oxidase gene restriction polymorphism in male populations of the Volga-Ural region]		309850	12263	2	2002	The results obtained suggest genetic homogeneity of the populations described in respect of the polymorphic locus examined.	Cohort eight male populations of the Volga-Ural region (Bashkirs, Chuvashes, Tatars, Udmurts, Maris, Mordovians, Komis, and Russians inhabiting the Republic of Bashkortostan). 										
130098	Y	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Takehashi, M.  et al. 2002	12098640				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuroscience letters. 2002 Jul;327(2):79-82	Association of monoamine oxidase A gene polymorphism with Alzheimer's disease and Lewy body variant.		309850	12264	2	2002	These results suggest that polymorphisms within the MAOA gene may have implication in AD pathology shared by pure AD and LBV.	Case patients with Parkinson's disease (PD), Alzheimer's disease (AD), and Lewy body variant (LBV) of AD:Cohort:controls										
130092	Y	obesity	METABOLIC	MET	Obesity|Body Weight	X	Xp11.4-p11.3	MAOA	43400352	43491012		Camarena B 2004	15034227		Transcriptional activity	5'promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Mexican		KGB	4128	Hs.183109	IMC>35 kg/m2		Neuropsychobiology. 2004 ;49(3):126-9	Family-based association study between the monoamine oxidase A gene and obesity: implications for psychopharmacogenetic studies.		309850	4441	1	2004		Case:50 families										
130094	N	schizophrenia; affective disorder	PSYCH	PSY	Mental Disorders|Mood Disorders|Bipolar Disorder|Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Syagailo, Y. V.  et al. 2001	11304831			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2001 Mar;105(2):168-71	Association analysis of the functional monoamine oxidase A gene promoter polymorphism in psychiatric disorders.		309850	12259	2	2001	Our results suggest that there is no association between MAOA-LPR genotype and susceptibility to recurrent major depression, bipolar disorder, and schizophrenia in our population.	Case:174 patients with affective disorders;Control:229 population controls;Case:258 patients with schizophrenia										
130095	N	suicide	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Ono, H.  et al. 2002	11920860				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2002 Apr;114(3):340-2	No evidence of an association between a functional monoamine oxidase a gene polymorphism and completed suicides.		309850	12261	2	2002	These results show no evidence of an association between the MAOA-uVNTR polymorphism and completed suicides and suggest that MAOA is not involved in the susceptibility to suicide.	Case completed suicide cases;Control not specified in abstract										
130088	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Serretti A et al. 2002	11992559			other	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Italian (Caucasian)		Serretti	4128	Hs.183109			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: Analysis of COMT, MAO-A, and Gbeta3 variants		309850	4437	1	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months	lithium									
130089	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Serretti A et al. 2002	11992558				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Italian		Serretti	4128	Hs.183109	bipolar disorder		American journal of medical genetics. 2002 May;114(4):361-9	Family-based association study of 5-HTTLPR TPH MAO-A and DRD4 polymorphisms in mood disorders.		309850	4438	1	2002		Case:103BP-58 MD										
130090	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Samochowiec J et al. 1999	10359483			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Psychiatry research. 1999 Apr;86(1):67-72	Association of a regulatory polymorphism in the promoter region of the monoamine oxidase A gene with antisocial alcoholism.		309850	4439	1	1999												
130085	N	panic disorder	PSYCH	PSY	Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Hamilton SP et al. 2000	11032378			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Molecular psychiatry. 2000 Sep;5(5):465-6	No genetic linkage or association between a functional promoter polymorphism in the monoamine oxidase-A gene and panic disorder.		309850	4434	1	2000												
130086	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lawson DC et al. 2003	12497620				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):84-9	Association analysis of monoamine oxidase A and attention deficit hyperactivity disorder.		309850	4435	1	2003	Using case control analysis and then the TDT, no association was found between these two MAOA polymorphisms and ADHD. Case control analysis of the VNTR showed an association with a subgroup of children with comorbid conduct problems (OR = 2.0, 95% CI = 1.09, 3.5), and TDT analysis indicated a statistical trend toward association. Our findings highlight the importance of phenotype definition and the need for the MAOA VNTR to be further examined.	Control:controls;Case:171 British Caucasian children 6-16 years of age fulfilling DSM-III R, DSM-IV or ICD-10 criteria for ADHD/Hyperkinetic Disorder										
130087	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Takehashi M et al. 2002	12098640				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Neuroscience letters. 2002 Jul;327(2):79-82	Association of monoamine oxidase A gene polymorphism with Alzheimer's disease and Lewy body variant.		309850	4436	1	2002	These results suggest that polymorphisms within the MAOA gene may have implication in AD pathology shared by pure AD and LBV.	Case patients with Parkinson's disease (PD), Alzheimer's disease (AD), and Lewy body variant (LBV) of AD:Cohort:controls										
130081	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Manor I et al. 2002	12140786			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Molecular psychiatry. 2002 ;7(6):626-32	Family-based and association studies of monoamine oxidase A and attention deficit hyperactivity disorder (ADHD): preferential transmission of the long promoter-region repeat and its association with impaired performance on a continuous performance test (T		309850	4430	1	2002	All three complementary approaches employed (family-based, case-control and quantitative trait design) suggest a role for the MAO A promoter-region polymorphism in conferring risk for ADHD in our patient population.	Case:110/19 male (n=110) and female (n=19) probands;Control:202 male controls										
130082		epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic|Epilepsy, Absence	X	Xp11.4-p11.3	MAOA	43400352	43491012		Haug K et al. 2000	10759301			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Epilepsy research. 2000 Apr;39(2):127-32	Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy.		309850	4431	1	2000												
130083	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Preisig M et al. 2000	10831475				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			The American journal of psychiatry. 2000 Jun;157(6):948-55	Association between bipolar disorder and monoamine oxidase A gene polymorphisms: results of a multicenter study.		309850	4432	1	2000	 The results obtained in the French and Swiss population confirm findings from two studies conducted in the United Kingdom.											
130077		mood disorder	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lin S et al. 2000	10686545				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese		KGB	4128	Hs.183109			American journal of medical genetics. 2000 Feb;96(1):4-Dec	Association analysis between mood disorder and monoamine oxidase gene.		309850	4426	1	2000		Case:132; Control:88										
130078		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kawada Y et al. 1995	7880306				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Japan	KGB	4128	Hs.183109			American journal of human genetics. 1995 Jan;56(1):335-6	Possible association between monoamine oxidase A gene and bipolar affective disorder.		309850	4427	1	1995												
130079		bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Nothen MM et al. 1995	7573065				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of human genetics. 1995 Oct;57(4):975-8	Association analysis of the monoamine oxidase A gene in bipolar affective disorder by using family-based internal controls.		309850	4428	1	1995												
130080	N	mood disorders	PSYCH	PSY	Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Cusin C et al. 2002	11992560				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A COMT 5-HT2A DRD2 and DRD4 polymorphisms with illness time course in mood disorders.		309850	4429	1	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
130073	N	psychiatric disorders	PSYCH	PSY	Mental Disorders|Mood Disorders|Bipolar Disorder|Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Syagailo YV et al. 2001	11304831			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 2001 Mar;105(2):168-71	Association analysis of the functional monoamine oxidase A gene promoter polymorphism in psychiatric disorders.		309850	4422	1	2001	Our results suggest that there is no association between MAOA-LPR genotype and susceptibility to recurrent major depression, bipolar disorder, and schizophrenia in our population.	Case:174 patients with affective disorders;Control:229 population controls;Case:258 patients with schizophrenia										
130074	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Devor EJ et al. 1993	8135303				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1993 Dec;48(4):209-13	Association of monoamine oxidase (MAO) activity with alcoholism and alcoholic subtypes.		309850	4423	1	1993												
130075	Y	restless legs syndrome	NEUROLOGICAL	NEUR	Restless Legs Syndrome|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Desautels A et al. 2002	12136060				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Neurology. 2002 Jul;59(2):215-9	Evidence for a genetic association between monoamine oxidase A and restless legs syndrome.		309850	4424	1	2002	 The high activity allele of the MAOA gene may represent a modifying factor involved in the severity of RLS manifestations in females.	Control:200 control subjects matched for ethnic background;Case:96 extensively characterized patients with restless legs syndrome										
130076		schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Coron B et al. 1996	8804132				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Psychiatry research. 1996 Jun;62(3):221-6	Association study between schizophrenia and monoamine oxidase A and B DNA polymorphisms.		309850	4425	1	1996												
130069	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Lu RB et al. 2002	11999895				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Chinese	Taiwan	KGB	4128	Hs.183109			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Apr;26(3):457-61	No association of the MAOA gene with alcoholism among Han Chinese males in Taiwan.		309850	4418	1	2002	This finding suggests that no association exists between genetic variation at the MAOA locus and alcoholism in Chinese Han males.	Case:214 male Chinese alcoholics northern Taiwan;Control:77 controls without history of alcoholism:Taipei										
130070	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Xie H et al. 2002	12170473				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Shanghai Han	China	KGB	4128	Hs.183109			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):329-31	The EcoR V polymorphism of human monoamine oxidase A is not associated with idiopathic Parkinson's disease in a Shanghai Han population		309850	4419	1	2002	 There may be racial difference in the distribution of the human MAO-A EcoR V (C/T) polymorphism, but the present research does not support the association between this variant and susceptibility to PD in Chinese Han population of Shanghai area.	Case:110 Parkinson's disease patients:Shanghai, China;Control:182 healthy controls										
130071		bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Furlong RA et al. 1999	10402508			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1999 Aug;88(4):398-406	Analysis of the monoamine oxidase A (MAOA) gene in bipolar affective disorder by association studies meta-analyses and sequencing of the promoter.		309850	4420	1	1999												
130065	Y	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Rubinsztein DC et al. 1996	8776592				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Human molecular genetics. 1996 Jun;5(6):779-82	Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis.		309850	4414	1	1996												
130066	Y	depressed suicide	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Du L et al. 2002	12151768				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Neuroreport. 2002 Jul;13(9):1195-8	High activity-related allele of MAO-A gene associated with depressed suicide in males.		309850	4415	1	2002	Our finding suggests that MAO-A may be a susceptibility gene in depressed male suicide victims. The results thus provide further evidence that genetic factors can modulate risk for depression, suicide or both by influencing monoaminergic activity in sexually dimorphic manner.	Case:44 depressed suicide victims;Control:92 control subjects of the same ethnic background										
130067	Y	early onset alcoholism/substance abuse.	OTHER	OTH	Substance-Related Disorders|Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012		Vanyukov MM et al. 1995	7485245				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1995 Apr;60(2):122-6	Preliminary evidence for an association of a dinucleotide repeat polymorphism at the MAOA gene with early onset alcoholism/substance abuse.		309850	4416	1	1995												
130068	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lim LC et al. 1995	7485270				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1995 Aug;60(4):325-31	Evidence for a genetic association between alleles of monoamine oxidase A gene and bipolar affective disorder.		309850	4417	1	1995	Our data is consistent with recent reports of reduced MAOA activity in patients with abnormal behavioral phenotypes. The strength of the association is weak, but significant, which suggests that alleles at the MAOA locus contribute to susceptibility to bipolar disorder rather than being a major determinant.											
130061	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Nanko S et al. 1996	8929994				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Neuroscience letters. 1996 Feb;204(2-Jan):125-7	No association between Parkinson's disease and monoamine oxidase A and B gene polymorphisms.		309850	4410	1	1996												
130062	Y	personality traits	PSYCH	PSY	Mental Disorders|Anxiety Disorders|Personality Disorders|Psychotic Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jorm AF et al. 2000	10994647			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Psychiatric genetics. 2000 Jun;10(2):87-90	Association of a functional polymorphism of the monoamine oxidase A gene promoter with personality and psychiatric symptoms.		309850	4411	1	2000												
130063		manic-depressive illness	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Parsian A et al. 1997	9342194				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1997 Sep;74(5):475-9	Genetic association between monoamine oxidase and manic-depressive illness: comparison of relative risk and haplotype relative risk data.		309850	4412	1	1997												
130064	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Craddock N et al. 1995	7485269				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 1995 Aug;60(4):322-4	No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms.		309850	4413	1	1995												
130058	Y	aggression, impulsivity, and central nervous system serotonergic responsivity	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Manuck SB et al. 2000	10904119				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Psychiatry research. 2000 Jul;95(1):23-Sep	A regulatory polymorphism of the monoamine oxidase-A gene may be associated with variability in aggression impulsivity and central nervous system serotonergic responsivity.		309850	4407	1	2000	We conclude that  the MAOA-uVNTR regulatory polymorphism may contribute, in part, to individual differences in both CNS serotonergic responsivity and personality traits germane to impulse control and antagonistic behavior.											
130059	Y	major depressive disorder	PSYCH	PSY	Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Schulze TG et al. 2000	11121185			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 2000 Dec;96(6):801-3	Association between a functional polymorphism in the monoamine oxidase A gene promoter and major depressive disorder.		309850	4408	1	2000	Thus, our data suggest that an excess of high-activity MAO-A gene promoter alleles resulting in an elevated MAO-A activity is a risk factor for major depressive disorder in females.	Control:101 individuals with a negative life history for affective disorder;Case:146 unrelated patients of German descent										
130060	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Costa-Mallen P et al. 2000	10643794				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109	smoking		Neuroscience letters. 2000 Jan;278(2-Jan):33-6	The EcoRV genetic polymorphism of human monoamine oxidase type A is not associated with Parkinson's disease and does not modify the effect of smoking on Parkinson's disease.		309850	4409	1	2000												
130054	Y	Alzheimer's disease; depressive disorder, major	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder	12	12p13	M6PR	8984230	8993519		Kolsch, H.  et al. 2004	15167696				Mannose-6-phosphate receptor (cation dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002355.2			CDC GDPinfo	4074	Hs.134084			Psychiatric genetics. 2004 Jun;14(2):97-100	Putative association of polymorphism in the mannose 6-phosphate receptor gene with major depression and Alzheimer's disease		154540	12256	2	2004	No significant association of the CD-MPR C-allele with Alzheimer's disease was observed. However, exploratory data analysis revealed an increased frequency of the CD-MPR C-allele in patients with major depression; thus, the C-allele may be a risk factor for depression. Gene location and function of the CD-MPR suggest an involvement in Alzheimer's disease; however, we could not find an association of the CD-MPR polymorphism with Alzheimer's disease. Since exploratory data suggest an involvement of the endosomal lysosomal system in major depression, further studies are warranted to investigate the biological role of the CD-MPR in major depression.	Case:188 Alzheimer's disease patients;Control:193/259 patients with major depression, as hospitalized controls (n=193), and healthy controls (n=259)										
130055	N	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	13	13q13	MAB21L1	34946341	34948788		Meira-Lima, I. V.  et al. 2001	11526470				Mab-21-like 1 (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005584.2			CDC GDPinfo	4081	Hs.584776			Molecular psychiatry. 2001 Sep;6(5):565-9	Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3.		601280	22795	2	2001	Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.	Case:115 unrelated bipolar affective disorder patients:14 multiply affected bipolar families;Control:196 healthy control subjects										
130056	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	19	19q13.1	MAG	40474877	40511973		Wan, C.  et al. 2005	16039057				Malignancy-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF041410	Chinese	China	CDC GDPinfo	27307	Hs.348346			Neuroscience letters. 2005 Nov;388(3):126-31	Polymorphisms of myelin-associated glycoprotein gene are associated with schizophrenia in the Chinese Han population.		159460	12257	2	2005												
130051		asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Lima, J. J.  et al. 2005	16293801				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDPinfo	4056	Hs.631951			American journal of respiratory and critical care medicine. 2006 Feb;173(4):379-85	Influence of Leukotriene Pathway Polymorphisms on Response to Montelukast in Asthma.		246530	27085	2	2005												
130052		asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Dewar, J. C.  et al. 2003	12724032				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1		Great Britain	CDC GDPinfo	4056	Hs.631951			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		246530	28299	2	2003	Review article											
130053	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	LZTS1	20147955	20157083		Hawkins, G.  et al. 2002	12377406				Leucine zipper, putative tumor suppressor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021020.1			CDC GDPinfo	11178	Hs.521432			Cancer genetics and cytogenetics. 2002 Aug;137(1):7-Jan	Germline sequence variants of the LZTS1 gene are associated with prostate cancer risk		606551	18110	2	2002	Four of these SNP were statistically significant for association with prostate cancer (P	Case:159/245 hereditary (n=159) and sporadic (n=245) prostate cancer cases;Control:222 unaffected controls										
130047	Y	asthma; aspirin intolerance	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Kedda, M. A.  et al. 2004	15131571				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Australian	Australia	CDC GDPinfo	4056	Hs.631951			The Journal of allergy and clinical immunology. 2004 May;113(5):889-95	Characterization of two polymorphisms in the leukotriene C4 synthase gene in an Australian population of subjects with mild, moderate, and severe asthma.		246530	12255	2	2004	 Our data confirm that, independent of transcriptional activity, the C(-444) allele in the LTC(4) synthase gene is weakly associated with the asthma phenotype, but it is not related to disease severity or aspirin intolerance.	Case:282/236/86 Australian white adult subjects of mild (n=282), moderate (n=236), and severe asthmatic subjects:(n=86);Control:458 nonasthmatic subjects										
130048	Y	allergic disease	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Dermatitis, Atopic|Hypersensitivity, Immediate|Respiratory Hypersensitivity	5	5q35	LTC4S	179153591	179156119		Yoshikawa, K.  et al. 2005	16211251				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDPinfo	4056	Hs.631951			International journal of molecular medicine. 2005 Nov;16(5):827-31	A novel single-nucleotide substitution, Glu 4 Lys, in the leukotriene C4 synthase gene associated with allergic diseases.		246530	18109	2	2005												
130050	N	asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Choi, J. H.  et al. 2004	14749922				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Korean	Korea	CDC GDPinfo	4056	Hs.631951			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with ahaplotype of 5-lipoxygenase.		246530	26392	2	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
130044	Y	asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Asano, K.  et al. 2002	12360108	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Japanese	Japan	CDC GDPinfo	4056	Hs.631951			Pharmacogenetics. 2002 Oct;12(7):565-70	Leukotriene C4 synthase gene A(-444)C polymorphism and clinical response to a CYS-LT(1) antagonist, pranlukast, in Japanese patients with moderate asthma.		246530	12252	2	2002	We conclude that  LTC(4) S genotype is predictive of the clinical response to a cysLT(1) antagonist, pranlukast, in Japanese patients with moderate asthma.	Control:171 individuals of the general population;Case:349 asthmatic subjects:Japanese	cysLT antagonist pranlukast									
130045	N	asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Sayers, I.  et al. 2003	12728163			promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDPinfo	4056	Hs.631951			Thorax. 2003 May;58(5):417-24	Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma		246530	12253	2	2003	 This study does not support a role for these polymorphisms in genetic susceptibility to asthma but provides evidence to suggest a role in determining lung function parameters.	Control:184 non-asthmatic controls;Case:341 white families (two asthmatic siblings)										
130046	N	asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Currie, G. P.  et al. 2003	12968987				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDPinfo	4056	Hs.631951			British journal of clinical pharmacology. 2003 Oct;56(4):422-6	Leukotriene C4 synthase polymorphisms and responsiveness to leukotriene antagonists in asthma.		246530	12254	2	2003	 Polymorphisms of leukotriene C4 synthase did not determine responsiveness, in terms of attenuation of bronchial hyperresponsiveness, to leukotriene receptor antagonists in mild-to-moderate asthmatics. Further prospective large pharmacogenetic studies are required in more severe patients, where there may be greater improvements in pharmacodynamic outcome measures such as bronchial hyperresponsiveness and exhaled nitric oxide.	Cohort mild to moderate asthmatics 	leukotriene inhibitors									
130041	N	Asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Choi JH 2004	14749922			haplotype	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Korean	Korea	KGB	4056	Hs.631951			Human genetics. 2004 Mar;114(4):337-44	Leukotriene-related gene polymorphisms in ASA-intolerant asthma: an association with a haplotype of 5-lipoxygenase.		246530	4405	1	2004	These results suggest a lack of association between the ALOX5AP, PTGS2, LTC4S, and CYSLTR1 gene polymorphisms and the AIA phenotype in the Korean population. However, the possible involvement of ALOX5-ht1[G-C-G-A] in AIA development is suggested.	Control:123 normal controls;Case:181 ASA-tolerant asthma (ATA) patients										
130042		periorbital angiodema	OTHER	OTH	Orbital Diseases|Angioedema|Angioedema	5	5q35	LTC4S	179153591	179156119		Torres-Galvan, M. J.  et al. 2001	11770699	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1		Spain	CDC GDPinfo	4056	Hs.631951			Annals of allergy, asthma & immunology. 2001 Dec;87(6):506-10	LTC4-synthase A-444C polymorphism: lack ofassociation with NSAID-induced isolated periorbital angioedema in a Spanish population.		246530	12250	2	2001	 Further studies are needed to determine whether polymorphisms in the LTC4-synthase gene or other leukotriene-forming enzymes are involved in the pathogenesis of the different subsets of NSAID sensitivity.	Case:58 patients with NSAID-induced periorbital angioedema;Control:61 control subjects	nonsteroidal anti-inflammatory (NSAID)									
130043	N	asthma, aspirin-induced	IMMUNE	IMM	Asthma|Drug Hypersensitivity	5	5q35	LTC4S	179153591	179156119		Kawagishi, Y.  et al. 2002	12063521			promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Japanese	Japan	CDC GDPinfo	4056	Hs.631951			The Journal of allergy and clinical immunology. 2002 Jun;109(6):936-42	Leukotriene C4 synthase promoter polymorphism in Japanese patients with aspirin-induced asthma.		246530	12251	2	2002	 Our findings reveal the lack of functionality of the polymorphism in the LTC4S gene, whereas this polymorphism might have some effect on the development of AIA, probably in linkage disequilibrium with another causatively important mutation.	Control:110 control subjects;Case:60/100 patients with aspirin-induced asthma (n=60) and with aspirin-tolerant asthma										
130038	Y	Aspirin-induced asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119	P=0.0024	Sanak M 2000	9393345	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			KCB	4056	Hs.631951			Lancet. 1997 Nov;350(9091):1599-600			246530	4402	1	2000												
130039	Y	Asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119	P=0.0024	Sanak M 1997	9393345	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Caucasian		KCB	4056	Hs.631951			Lancet. 1997 Nov;350(9091):1599-600			246530	4403	1	1997												
130040		asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119		Sayers I et al. 2003	12728163			promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			KGB	4056	Hs.631951			Thorax. 2003 May;58(5):417-24	Allelic association and functional studies of promoter polymorphism in the leukotriene C4 synthase gene (LTC4S) in asthma.		246530	4404	1	2003	 This study does not support a role for these polymorphisms in genetic susceptibility to asthma but provides evidence to suggest a role in determining lung function parameters.	Control:184 non-asthmatic controls;Case:341 white families (two asthmatic siblings)										
130033		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	14	14q24	LTBP2	74034638	74148787		Saito, T.  et al. 2004	15063762				Latent transforming growth factor beta binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000428.2		Japan	CDC GDPinfo	4053	Hs.512776			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		602091	28570	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
130034	N	Aspirin-intolerant asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119	n	Van Sambeek R 2000	10887308	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	U.S. Caucasian	United States	KCB	4056	Hs.631951			The Journal of allergy and clinical immunology. 2000 Jul;106(1 Pt 1):72-6			246530	4398	1	2000	 Our data demonstrate that the C-444 allele in the LTC4S gene is not statistically different among patients with the aspirin-intolerant asthmatic phenotype, patients with the aspirin-tolerant asthmatic phenotype, and unaffected control subjects in the United States. This finding, along with the lack of functionality of this polymorphism, suggest that it is not related to a specific asthma phenotype and may represent a population-stratified polymorphism within patients of eastern European descent.											
130035	N	Asthma	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119	n	Unoki M 2000	10830912	A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1		Japan	KCB	4056	Hs.631951			Human genetics. 2000 Apr;106(4):440-6			246530	4399	1	2000												
130029		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	12	12q22	LTA4H	94918741	94953496			16282974				Leukotriene A4 hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000895.1			CDC GDPinfo	4048	Hs.524648			Nature genetics. 2006 Jan;38(1):68-74	A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction.		151570	22794	2	2005												
130030		asthma	IMMUNE	IMM	Asthma	12	12q22	LTA4H	94918741	94953496		Lima, J. J.  et al. 2005	16293801				Leukotriene A4 hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000895.1			CDC GDPinfo	4048	Hs.524648			American journal of respiratory and critical care medicine. 2006 Feb;173(4):379-85	Influence of Leukotriene Pathway Polymorphisms on Response to Montelukast in Asthma.		151570	26391	2	2005												
130031		asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	LTB	31656314	31658181		Migita, O.  et al. 2005	15969671				Lymphotoxin beta (TNF superfamily, member 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002341.1	Japanese		CDC GDPinfo	4050	Hs.376208			Clinical and experimental allergy. 2005 Jun;35(6):790-6	Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.		600978	25211	2	2005	 Our results suggest that LTA is one of the genes that contributes to susceptibility to atopic asthma, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population.											
130032		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	LTB	31656314	31658181		Martinez, A.  et al. 2004	15077289				Lymphotoxin beta (TNF superfamily, member 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002341.1			CDC GDPinfo	4050	Hs.376208			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		600978	27084	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
130025		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p21.3	LTA	31647718	31650077		Zee, R. Y.  et al. 2002	12082592				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		153440	28656	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
130027	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	12	12q22	LTA4H	94918741	94953496	n	Hakonarson H 2001	11739132	Val28Val. C114T			Leukotriene A4 hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000895.1	Icelandic	Iceland	KCB	4048	Hs.524648			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			151570	4351	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
130028		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	12	12q22	LTA4H	94918741	94953496		Hakonarson, H.  et al. 2005	15886380				Leukotriene A4 hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000895.1			CDC GDPinfo	4048	Hs.524648			JAMA. 2005 May;293(18):2245-56	Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial.		151570	22793	2	2005	 In patients with specific at-risk variants of 2 genes in the leukotriene pathway, DG-031 led to significant and dose-dependent suppression of biomarkers that are associated with increased risk of MI events.	Cohort 268 myocardial infarc patients Iceland 	5-lipoxygenase-activating protein inhibitor									
130022		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	6	6p21.3	LTA	31647718	31650077		Marshall, S. E.  et al. 2001	11233912				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		153440	28080	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
130023		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Martin, A. M.  et al. 2003	14566095				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		153440	28169	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
130024		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	6	6p21.3	LTA	31647718	31650077		Chernajovsky, Y.  et al. 2002	12421093				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		153440	28241	2	2002	Review article											
130019		preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	6	6p21.3	LTA	31647718	31650077		Engel, S. A.  et al. 2005	15951664				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		North Carolina	CDC GDPinfo	4049	Hs.36			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		153440	27082	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
130020		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	6	6p21.3	LTA	31647718	31650077		Ligeiro, D.  et al. 2004	15194285				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		153440	27083	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
130021		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	6	6p21.3	LTA	31647718	31650077			16389181				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		153440	27966	2	2006												
130016		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Meddeb-Garnaoui, A.  et al. 2001	11334675				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Mediterranean Region	CDC GDPinfo	4049	Hs.36			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		153440	27079	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
130017		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Parks, C. G.  et al. 2004	15219382				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Southeastern United States	CDC GDPinfo	4049	Hs.36			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		153440	27080	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries										
130018		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	6	6p21.3	LTA	31647718	31650077		Nishimura, M.  et al. 2003	12651071				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		153440	27081	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
130013		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	6	6p21.3	LTA	31647718	31650077		Freeman, B. D.  et al. 2002	12411588				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		153440	26389	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
130014		asthma; eczema; allergic disease	IMMUNE	IMM		6	6p21.3	LTA	31647718	31650077		Meenagh, A.  et al. 2002	12392859				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Human immunology. 2002 Nov;63(11):1055-61	Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America.		153440	26390	2	2002	No conclusion stated in abstract	Cohort Five population samples, including Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos. 										
130015		hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	LTA	31647718	31650077		Bougacha-Elleuch, N.  et al. 2004	15236755				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Tunisian	Tunisia	CDC GDPinfo	4049	Hs.36			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		153440	27078	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
130010		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	LTA	31647718	31650077		Airoldi, A.  et al. 2004	15548263				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	European		CDC GDPinfo	4049	Hs.36			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		153440	26386	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
130011		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Kamali-Sarvestani, E.  et al. 2005	15811521				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Iranian	Iran	CDC GDPinfo	4049	Hs.36			Journal of reproductive immunology. 2005 Apr;65(2):171-8	Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women.		153440	26387	2	2005	It may be concluded that IL-10 polymorphism at position -592 could be a genetic factor for RPL.	Case:139 women with recurrent pregnancy loss:Iran;Control:143 contol women										
130012		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	LTA	31647718	31650077		Socie, G.  et al. 2001	11544434				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Transplantation. 2001 Aug;72(4):699-706	Both genetic and clinical factors predict the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation		153440	26388	2	2001	 In addition to previously described clinical risk factors, genetic risk factors are independently associated with the risk of developing graft-versus-host disease and may, thus, be considered for the selection of the donor.	Cohort 100 consecutive patients who underwent allogeneic stem cell transplantation from an HLA-identical sibling donor 										
130007		asthma	IMMUNE	IMM	Asthma	6	6p21.3	LTA	31647718	31650077		Winterton, D. L.  et al. 2001	11258696				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8	Genetic polymorphisms as biomarkers of sensitivity to inhaled sulfur dioxide in subjects with asthma.		153440	25210	2	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.	Cohort 62 volunteers with physician-diagnosed asthma requiring regular asthma medication. 	sulfur dioxide									
130008	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Criswell, L. A.  et al. 2004	15457442				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		153440	26384	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
130009		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	LTA	31647718	31650077		Martinez, A.  et al. 2004	15077289				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		153440	26385	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
130004		diabetes, type 1; measles	IMMUNE	IMM	HIV Seropositivity	6	6p21.3	LTA	31647718	31650077		Tang, J.  et al. 2001	11250044				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Africa	CDC GDPinfo	4049	Hs.36			Human immunology. 2001 Mar;62(3):269-78	Novel alleles at the lymphotoxin alpha (LTalpha) locus mark extended HLA haplotypes in native Africans.		153440	25207	2	2001	These findings suggest a preferential expansion of the human TNFc dinucleotide (CT/AG) repeat sequence and further imply the existence of two extended MHC lineages that have not been disrupted by recombinations.	Cohort 285/319 285 Rwandans and 319 Zambians Rwanda and Zambia 										
130005		typhoid fever	INFECTION	INF	Typhoid Fever|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Dunstan, S. J.  et al. 2001	11120931				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Vietnamese	Vietnam	CDC GDPinfo	4049	Hs.36			The Journal of infectious diseases. 2001 Jan;183(2):261-268	Genes of the class II and class III major histocompatibility complex are associated with typhoid fever in Vietnam.		153440	25208	2	2001	This report identifies a genetic association in humans between typhoid fever and MHC class II and III genes.	Case individuals with blod culture-confirmed typhoid:fever;Control:controls										
130006		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		McHugh, N.  et al. 2005	16107511				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Annals of the rheumatic diseases. 2005	MHC Class II, tumor necrosis factor-{alpha} and lymphotoxin-{alpha} gene haplotype associations with serological subsets of systemic lupus erythematosus.		153440	25209	2	2005	 The strongest association in this predominantly white population with SLE was between HLA-DR3 and anti-La, which seemed to account for any associations with TNFalpha alleles on an extended DR3 haplotype.											
130000		idiopathic pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Disease Progression|Inflammation	6	6p21.3	LTA	31647718	31650077		Pantelidis, P.  et al. 2001	11371414				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Great Britain	CDC GDPinfo	4049	Hs.36			American journal of respiratory and critical care medicine. 2001 May;163(6):1432-6	Analysis of tumor necrosis factor-alpha, lymphotoxin-alpha, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis.		153440	22792	2	2001	These findings, if independently confirmed, will be the first to suggest that disease progression in IPF may be linked to a particular genetic marker or to functional polymorphisms in other genes near that marker.	Case Idiopathic pulmonary fibrosis subjects;Control normal control population										
130001		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Holla, L. I.  et al. 2001	11210078				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Journal of periodontology. 2001 Jan;72(1):85-9	Interactions of lymphotoxin alpha (TNF-beta), angiotensin-converting enzyme (ACE), and endothelin-1 (ET-1) gene polymorphisms in adult periodontitis		153440	25204	2	2001	 This study is of an exploratory nature. Considering the number of significant results, however, at least a part of the observed associations may obviously be real and our findings suggest that interactions of the TNF-beta, ET-1, and ACE genes may be involved in susceptibility to adult periodontitis.	Case:63 Caucasian patients with adult periodontitis;Control:95 orally healthy controls										
130002		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Kankova, K.  et al. 2001	11399938				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Ophthalmologica. 2001 Jul-Aug;215(4):294-8	Duration of non-Insulin-dependent diabetes mellitus and the TNF-beta NcoI genotype as predictive factors in proliferative diabetic retinopathy.		153440	25205	2	2001	Our results identified the allele variant TNF-beta(2) being associated with PDR in NIDDM. Diabetes duration and the TNF-beta NcoI genotype were proven to significantly predict PDR occurrence. The TNF-beta(2) allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.	Case non-PDR NIDDM subjects;Control:176 nondiabetic subjects;Case:246 Caucasian non-insulin-dependent diabetes mellitus (NIDDM) subjects with defined proliferative diabetic retinopathy status (PDR)										
129997	Y	myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Nishimura, M.  et al. 2000	11163081				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		153440	22789	2	2000	The results suggest that the TNF/LT-alpha gene region within the HLA class III of chromosome 6 and the TNFR-2 gene region located on chromosome 1p36 might contribute to susceptibility to HAM, and that aberrant expression or function of these cytokines and the receptor could be involved in the development of HAM.	Control:50/112 asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112);Case:51/48 Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell:leukemia/lymphoma (ATL) (n = 48)	human T lymphotropic virus									
129999	N	leukemia, acute myeloid; myelodysplasia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Autoimmune Diseases|Acute Disease	6	6p21.3	LTA	31647718	31650077		Gowans, D.  et al. 2002	12028020				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			British journal of haematology. 2002 Jun;117(3):541-5	Allele and haplotype frequency at human leucocyte antigen class I/II and immunomodulatory cytokine loci in patients with myelodysplasia and acute myeloid leukaemia: in search of an autoimmuneaetiology.		153440	22791	2	2002	We can find no genetic influence for these polymorphisms in HLA class I/II, TNF-alpha/LT-alpha and IL-10 loci on either predisposition or disease progression in MDS/AML.	Control Scottish blood donors, healthy General Practitioner-based subjects, and published haplotype values;Case:150 patients with myelodysplasia and acute myeloid:leukemia										
129994	Y	erythrocyte catalase activity	OTHER	OTH		6	6p21.3	LTA	31647718	31650077	0.04	Nadif, R.  et al. 2005	16298864	NcoI, B1 and B2 alleles		unknown	Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Coal miners		CDC GDPinfo	4049	Hs.36			Free radical research. 2005 Dec;39(12):1345-50	Association of CAT polymorphisms with catalase activity and exposure to environmental oxidative stimuli.	909253	153440	22786	2	2005	LTA NcoI SNP influenced catalase activity		coal mine dust	CAT	C to T at -262					N	N	
129995		cerebral palsy	OTHER	OTH	Cerebral Palsy|Thrombosis|Hypertension	6	6p21.3	LTA	31647718	31650077		Nelson, K. B.  et al. 2005	15718364				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Pediatric research. 2005 Apr;57(4):494-9	Genetic polymorphisms and cerebral palsy in very preterm infants.		153440	22787	2	2005	We conclude that  further study of genetic factors that may influence susceptibility to CP in very preterm infants is warranted.	Control:119 control children;Case:96 singleton infants with later-diagnosed cerebral:palsy										
129996		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Zhang, J.  et al. 1997	11324494				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Chinese	China	CDC GDPinfo	4049	Hs.36			Chinese medical sciences journal. 1997 Jun;12(2):107-10	The polymorphisms of HLA-DR and TNF B loci in northern Chinese Han nationality and susceptibility to systemic lupus erythematosus.		153440	22788	2	1997	Analysis of 51 patients with SLE and 80 healthy control also revealed that the frequency of TNFB*2 allele was significantly increased (P < 0.05, RR = 1.70). Therefore TNFB*2 gene may also be a susceptibility gene or a marker gene for SLE in northern Chinese Han nationality. It was also investigated the association between HLA-DR, TNF B alleles and Patient plasmic SC5b-9 levels, auto-antibodies (anti-SSA, SSB, Sm, RNP, ds DNA and ANA) and SLE complications (SLE nephritis, SLE pneumonitis and SLE encephalopathy), no relationship was found.	Control:106 healthy controls;Case:51 systemic lupus erythematosus northern Chinese Han nationality										
129991		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Nishimura, M.  et al. 2003	12559634				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese	Japan	CDC GDPinfo	4049	Hs.36			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes.		153440	22783	2	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
129992		asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	LTA	31647718	31650077		Migita, O.  et al. 2005	15969671				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese		CDC GDPinfo	4049	Hs.36			Clinical and experimental allergy. 2005 Jun;35(6):790-6	Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.		153440	22784	2	2005	 Our results suggest that LTA is one of the genes that contributes to susceptibility to atopic asthma, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population.											
129993		ulcerative colitis; asthma	IMMUNE	IMM	Myocardial Infarction|Disease Susceptibility	6	6p21.3	LTA	31647718	31650077		Koch, W.  et al. 2005	15843211				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese		CDC GDPinfo	4049	Hs.36			Clinical chemistry and laboratory medicine. 2005 ;43(2):167-72	TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6.		153440	22785	2	2005	This Caucasian study group and the Japanese sample showed strong linkage disequilibrium in the myocardial infarction-associated BAT1-NFKBIL1-LTA genomic region and related haplotype content, but significantly different genotype frequencies. The new TaqMan systems provide relatively simple and fast assays to test the clinical relevance of these polymorphisms.	Cohort 1,211 Caucasians who presented without symptoms or signs of acute or previous myocardial infarction 										
129988	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Ferrarotti, I.  et al. 2003	12661999				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			The European respiratory journal. 2003 Mar;21(3):444-9	Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.		153440	19930	2	2003	No significant deviations were found concerning the four polymorphisms studied between the two populations. The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease.	Case:63 chronic obstructive pulmonary disease patients;Control:86 healthy smokers										
129989		uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	6	6p21.3	LTA	31647718	31650077		Kuo, N. W.  et al. 2005	15851552				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Investigative ophthalmology & visual science. 2005 May;46(5):1565-71	TNF-857T, a genetic risk marker for acute anterior uveitis.		153440	19936	2	2005	 A significant difference in the frequency of TNF-857T allele was found in patients with IAU. There was a trend toward the development of inflammation-related complications in HLA-B27(+) patients with IAU who were carriers of TNFRSF1A-201T or TNFRSF1A-1135T alleles. Genetic variations in these proinflammatory mediators and their receptors appear to influence the susceptibility and severity of the inflammatory response within the eyes of patients during the development of IAU.	Control:controls;Case:98 white patients with acute anterior uveitis:UK										
129990		azoospermia; oligoasthenospermia	REPRODUCTION	REP	Oligospermia	6	6p21.3	LTA	31647718	31650077		Kucera, M.  et al. 2001	11732226				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Czech		CDC GDPinfo	4049	Hs.36			Ceska Gynekol. 2001 Sep;66(5):313-7	Article in Czech-the allele frequency of ACE and TNF-beta genes in men with pathological sperm count and men with normal fertility		153440	22782	2	2001	 The study has found different allele frequency of I/D ACE and B1/B2 TNF-beta genes polymorphism in men with pathological sperm count compared to men with normal fertility. These results could contribute to elucidate the genetic background of a male infertility.	Case:46 patients (33.4 +/- 7.2 years) with pathological sperm count (9 azoospermia, 21 severe oligoasthenospermia, 16 moderate:oligoasthenospermia);Control:88 healthy men (31.2 +/- 9.3 years) with normal:fertility										
129985	Y	sepsis	INFECTION	INF	Sepsis|Disease Susceptibility|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Shu, Q.  et al. 2002	12126516				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Zhonghua yi xue za zhi. 2002 Jul;82(13):903-6	[Association of tumor necrosis factor microsatellites TNF with the susceptibility to and outcome of postoperative severe sepsis]		153440	19897	2	2002	 Microsatellite TNFa is significantly associated with both the susceptibility to and outcome of severe sepsis. In contrast, microsatellite TNFb is neither associated with the susceptibility to severe sepsis nor with the outcome of severe sepsis.	Case:122 postoperative patients suffering from severe sepsis;Control:138 ethnically matched heatlhy individuals										
129986	Y	chronic obstructive pulmonary disease/COPD; bronchiectatic disease	IMMUNE	IMM	Bronchiectasis|Pulmonary Disease, Chronic Obstructive	6	6p21.3	LTA	31647718	31650077			15174288				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Genetika. 2004 Apr;40(4):545-51	[Allelic variants of the tumor necrosis factor superfamily as markers of the severity of the course of chronic obstructive lung disease and bronchiectatic disease]		153440	19902	2	2004	Thus, we have shown for the first time ever that LTA gene alleles and their combinations with the polymorphic variants of the TNFA gene are associated with predisposition to COPD and severity of this disease.	Control:169 healthy individuals;Case:172/22 patients with chronic obstructive pulmonary disease (n=172) and with bronchiectatic disease (n=22)										
129987		cytokine response	UNKNOWN	UNK		6	6p21.3	LTA	31647718	31650077		Majetschak, M.  et al. 2005	15699425				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Clinical and diagnostic laboratory immunology. 2005 Feb;12(2):296-303	Alterations in leukocyte function following surgical trauma: differentiation of distinctreaction types and association with tumor necrosis factor gene polymorphisms.		153440	19904	2	2005	TNF gene polymorphisms were associated with changes in TNF-alpha production but do not explain the overall reaction patterns of cytokine production after trauma. The clinical correlate of these newly defined reaction types remains to be determined.	Cohort 48 patients undergoing joint replacement 										
129981		cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis	6	6p21.3	LTA	31647718	31650077		Yee, L. J.  et al. 2000	11196686				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Genes and immunity. 2000 Aug;1(6):386-90	Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection		153440	14393	2	2000	Polymorphisms in the TNF alpha promoter appear to be associated with variability in the histological severity of chronic hepatitis C infection.	Control:114 HCV-infected patients histopathologically free of:cirrhosis;Case:30 Caucasians with cirrhosis due to chronic HCV:infection	hepatitis C									
129983		blood transfusion	CARDIOVASCULAR	CARD	Critical Illness	6	6p21.3	LTA	31647718	31650077		Gong, M. N.  et al. 2003	14569193				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Epidemiology (Cambridge, Mass). 2003 Nov;14(6):744-7	Genotyping patients with recent blood transfusions.		153440	19427	2	2003	 We conclude that microchimerism from allogeneic blood transfusion is unlikely to have major effects on the genotype results of common polymorphisms in large molecular epidemiology studies conducted in the critical care setting if DNA is collected within a day after transfusions.	Cohort 145 ICU patients from the Massachusetts General Hospital Boston, MA, USA 										
129984		leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Fitness, J.  et al. 2002	12486602				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Genes and immunity. 2002 Dec;3(8):441-53	Genetics of susceptibility to leprosy.		153440	19456	2	2002	Review article											
129978	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	LTA	31647718	31650077		Xu, X. W.  et al. 2005	15649304				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Clinical microbiology and infection. 2005 Jan;11(1):52-6	Association between tumour necrosis factor gene polymorphisms and the clinical types of patients with chronic hepatitis B virus infection.		153440	14357	2	2005	It was concluded that TNF-alpha gene polymorphisms may play an important role as a host factor in the progression of HBV infection.	Case:71 patients who either had chronic mild HBV infection or who were asymptomatic carriers;Control:90 healthy controls										
129979		respiratory distress syndrome, acute	UNKNOWN	UNK	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Gong, M. N.  et al. 2005	16135717	TNFalpha-308 A/G			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			The European respiratory journal. 2005 Sep;26(3):382-9	-308GA and TNFB polymorphisms in acute respiratory distress syndrome.		153440	14367	2	2005												
129980		esophageal cancer; gastric cardia adenocarcinoma	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077			16313841				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Chinese		CDC GDPinfo	4049	Hs.36			Chinese medical journal. 2005 Nov;118(22):1870-8	[Polymorphisms in tumor necrosis factor genes and susceptibility to esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma in a population of high incidence region of North China.]		153440	14372	2	2005	 Therefore, the TNF-alpha-308G/A and TNF-beta+252G/A genotyping may be used as a stratification markers to predicate the risk of ESCC and GCA development in North China.											
129974	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	LTA	31647718	31650077		Alvarez, V.  et al. 2002	12116197	TNFalpha-308 A/G			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			American journal of medical genetics. 2002 Jul;114(5):574-7	Association between the TNFalpha-308 A/G polymorphism and the onset-age of Alzheimer disease.		153440	14336	2	2002	Our data suggest an effect of the TNFalpha-308 polymorphism on the age at onset of late AD. This represents additional evidence of the importance of genetic variation at the proinflammatory components in the origin and progression of this common NEUROLOGICALenerative disease.	Case:315 late-onset Alzheimer's disease patients;Control:400 healthy controls										
129975		Alzheimer's disease; arthritis; lupus erythematosus; inflammatory bowel disease; insulin; malaria	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Aguillon, J. C.  et al. 2002	12434654				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Rev Med Chil. 2002 Sep;130(9):1043-50	[Tumor necrosis factor alpha genetic polymorphism as a risk factor for disease]		153440	14339	2	2002	Review article											
129976	Y	palmoplantar pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Hashigucci, K.  et al. 2003	12691703				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese		CDC GDPinfo	4049	Hs.36			Human immunology. 2003 May;64(5):530-7	A clinical feature associated with polymorphisms of the TNF region in Japanese patients with palmoplantar pustulosis.		153440	14341	2	2003	These results indicate that detection of polymorphisms at the TNF locus may be a marker for determination of the heterogeneity of the disease, and that the allelic variation may influence the susceptibility.	Control:controls;Case:78 provocation positive (n=38) and provocation negative (n=40) palmoplantar pustulosis patients										
129971	N	asthma; dermatitis, atopic; rhinitis, allergic	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	LTA	31647718	31650077		Izakovicova Holla, L.  et al. 2001	11591192				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Czech	Czech Republic	CDC GDPinfo	4049	Hs.36			Clinical and experimental allergy. 2001 Sep;31(9):1418-23	The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.		153440	14138	2	2001	 Several reports have indicated that different HLA products and genes may be risk factors for or protective factors against the development of atopy. We report no association between polymorphisms in the LT-alpha and TAP-1 genes alone and atopic diseases in the central Europe Caucasian (Czech) population, but there was an interesting interaction between the TAP333 and LT-alpha polymorphisms.	Control:184 Caucasian Czech healthy controls central Europe;Case:243 Caucasian Czech patients with histories of atopic asthma, allergic rhinitis and atopic dermatitis or their combinations central Europe		TAP333		LT-alpha				Y		atopic diseases
129972	N	polycystic ovarian syndrome; glucose metabolism	METABOLIC	MET	Polycystic Ovary Syndrome	6	6p21.3	LTA	31647718	31650077		Mao, W.  et al. 2000	11775944				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Zhonghua fu chan ke za zhi. 2000 Sep;35(9):536-9	[Study on the relationship between a polymorphism of tumor necrosis factor-alpha gene and the pathogenesis of polycystic ovary syndrome]		153440	14333	2	2000	 There is no association between TNF-alpha gene -308 bp polymorphism and the pathogenesis of polycystic ovary syndrome, but PCOS patients with TNF2 genotype may associate with improvement to certain degree on abnormal glucose tolerance usually existed in obese PCOS women.	Case:118 Chinese women with plolycystic ovary syndrome (44 were obese, and 74 nonobese);Control:54:controls										
129973	Y	oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis	6	6p21.3	LTA	31647718	31650077		Chiu, C. J.  et al. 2001	11808761				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Taiwan	CDC GDPinfo	4049	Hs.36			Journal of dental research. 2001 Dec;80(12):2055-9	Association between genetic polymorphism of tumor necrosis factor-alpha and risk of oral submucous fibrosis, a pre-cancerous condition of oral cancer.		153440	14335	2	2001	The finding may imply a multifunctional etiological factor of TNF-alpha in OSF pathogenesis.	Case:166 oral submucous fibrosis subjects;Control:284 areca-chewing controls										
129968	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Li, Y.  et al. 2004	15583987				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Chinese		CDC GDPinfo	4049	Hs.36			Zhonghua yi xue yi chuan xue za zhi. 2004 Dec;21(6):583-6	[Association between tumor necrosis factor-beta polymorphisms and coronary heart disease in a Chinese population.]		153440	12246	2	2004	 The single nucleotide polymorphism (SNP) at position 804 in the exon 3 of TNF-beta gene is associated with CHD and the allele A may be a risk factor for CHD in Chinese. The polymorphism of G252A may not play an important role in the pathogenesis of CHD.	Control:186 healthy controls;Case:210 Chinese patients with coronary heart disease										
129969		Graves' disease	IMMUNE	IMM		6	6p21.3	LTA	31647718	31650077		Zhao, S. N.  et al. 2003	15639929				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Yi chuan. 2003 Sep;25(5):555-6	[Analysis of TNFbeta Gene Microsatellite Polymorphism in Graves Disease.]		153440	12247	2	2003	The TNFc2 allele frequency in Graves disease group was greater than control group(chi2 = 4.02,P<0.05),indicating this allele may have an important role in the pathogenesis of Graves disease.	Case Graves' disease patients;Control:controls										
129970		psoriasis	IMMUNE	IMM	Psoriasis|Inflammation	6	6p21.3	LTA	31647718	31650077		Vasku, V.  et al. 2000	11194890				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Archives of dermatological research. 2000 Nov;292(11):531-4	Polymorphisms in inflammation genes (angiotensinogen, TAP1 and TNF-beta) in psoriasis		153440	14135	2	2000	Polymorphisms in proinflammatory angiotensinogen and TNFbeta genes were associated with plaque psoriasis, a positive family history of psoriasis and with frequent tonsillitis in childhood.	Control:141 healthy subjects;Case:142 Caucasian (Czech) patients with plaque psoriasis										
129965	Y	sepsis	OTHER	OTH	Sepsis|Genetic Predisposition to Disease|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Riese, J.  et al. 2003	12558135				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Shock (Augusta, Ga). 2003 Jan;19(1):4-Jan	Association of a TNFbeta gene polymorphism with complications after major abdominal operations		153440	12243	2	2003	These data indicate an association between TNFbeta polymorphism and postoperative complications and they suggest the B2/B2 genotype as a high risk factor for the development of sepsis after elective operative trauma.	Cohort 172 patients of elective major abdominal operations 										
129966	Y	sepsis	INFECTION	INF	Sepsis|Genetic Predisposition to Disease|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Kahlke, V.  et al. 2004	15041959				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Surgery. 2004 Apr;135(4):365-73; discussion 374-5	Are postoperative complications genetically determined by TNF-beta NcoI gene polymorphism?		153440	12244	2	2004	 The TNF-beta NcoI polymorphism influences the development of postoperative complications. While the genotype TNF-beta1/beta2 has a higher risk for developing complications in general, the TNF-beta2/beta2 genotype is associated with more severe complications and mortality from sepsis.	Cohort 160 patients undergoing major gastrointestinal surgery, such as esophagectomy, gastrectomy, Whipple operation, major liver resection, or colon resection 										
129967	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Nakayama, T.  et al. 2004	15533732				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			American journal of hypertension. 2004 Nov;17(11 Pt 1):1045-9	An association study in essential hypertension using functional polymorphisms in lymphotoxin-alpha gene.		153440	12245	2	2004	 Polymorphisms of the LTA gene were not associated with EH. This finding suggests differences in genetic backgrounds between EH and MI.	Case:202 essential hypertension patients;Control:217 age-matched normotensive controls										
129961	N	hypertriglyceridemia or insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hypertriglyceridemia|Obesity	6	6p21.3	LTA	31647718	31650077	n	Fernandez-Real JM et al. 1997	9245742				lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Biochemical and biophysical research communications. 1997 Jul;236(3):829-32	The TNF-beta gene Nco I polymorphism is not associated with hypertriglyceridemia or insulin resistance in lean and obese subjects.		153440	7570	1	1997												
129962	Y	Lupus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Lupus Nephritis|Disease Susceptibility	6	6p21.3	LTA	31647718	31650077		Kim TG et al. 1996	9157084	TNFB*2			lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Korean	Canada|Korea|Germany	KGB	4049	Hs.36			Human immunology. 1996 Mar;46(1):7-Oct	Systemic lupus erythematosus with nephritis is strongly associated with the TNFB*2 homozygote in the Korean population.		153440	7571	1	1996												
129963	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms	6	6p21.3	LTA	31647718	31650077		Shimura T et al. 1995	7889473				lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36	gastric cancer		Cancer. 1995 Mar;75(6 Suppl):1450-3	10.5-kb homozygote of tumor necrosis factor-beta gene is associated with a better prognosis in gastric cancer patients.		153440	7572	1	1995	The 10.5-kb homozygote of TNF-beta gene is associated with a prolonged survival in patients with gastric cancer, as has been shown in the patients with lung cancer.											
129957		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077		Feugeas JP 2004	8062134				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			Y Wang	4049	Hs.36			C R Acad Sci III.. 1993 Oct;316(10):1255-9	Dysregulation of in vitro TNF-beta production in insulin-dependent diabetes mellitus		153440	4391	1	2004												
129959	N	Obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hypertriglyceridemia|Obesity	6	6p21.3	LTA	31647718	31650077	p<0,05	Fernandez-Real, Biophys Res Commun 1997:236:829-32	9245742			unknown	Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2				4049	Hs.36			Biochemical and biophysical research communications. 1997 Jul;236(3):829-32	The TNF-beta gene Nco I polymorphism is not associated with hypertriglyceridemia or insulin resistance in lean and obese subjects.		153440	4393	1	1997												
129960	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077	p<0.01	Vendrell J et al. 1994	7956650			other	Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Caucasian		KGB	4049	Hs.36	ICA positive		Diabetes care. 1994 Aug;17(8):944-5	A tumor necrosis factor beta-gene polymorphism associated with islet cell antibodies in newly diagnosed type I diabetic patients.		153440	4394	1	1994		Case:32; Control:48										
129953		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Jenkins D 2004	1682200				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	North Indian Asian	India|Great Britain	Y Wang	4049	Hs.36			Diabetologia. 1991 Aug;34(8):576-8	Tumour necrosis factor-beta polymorphism is unlikely to determine susceptibility to type 1 (insulin-dependent) diabetes mellitus.		153440	4387	1	2004												
129954	Y	Postoperative infectious complications	INFECTION	INF	Sepsis|Genetic Predisposition to Disease|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Kahlke V 2004	15041959	TNF-beta2/beta2			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36	sepsis		Surgery. 2004 Apr;135(4):365-73; discussion 374-5	Are postoperative complications genetically determined by TNF-beta NcoI gene polymorphism?		153440	4388	1	2004	 The TNF-beta NcoI polymorphism influences the development of postoperative complications. While the genotype TNF-beta1/beta2 has a higher risk for developing complications in general, the TNF-beta2/beta2 genotype is associated with more severe complications and mortality from sepsis.	Cohort 160 patients undergoing major gastrointestinal surgery, such as esophagectomy, gastrectomy, Whipple operation, major liver resection, or colon resection										
129955		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Ilonen J 2004	1361076				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Finnish	Finland	Y Wang	4049	Hs.36			Scandinavian journal of immunology. 1992 Dec;36(6):779-83	Tumour necrosis factor-beta gene RFLP alleles in Finnish IDDM haplotypes. The Childhood Diabetes in Finland (DiMe) Study Group		153440	4389	1	2004												
129949		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis	6	6p21.3	LTA	31647718	31650077		Lee SH 1997	9302664				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Korean	Korea	Y Wang	4049	Hs.36			Lupus. 1997 ;6(7):603-9	Decreased tumour necrosis factor-beta production in TNFB*2 homozygote: an important predisposing factor of lupus nephritis in Koreans.		153440	4383	1	1997												
129950		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077		Pociot F 2004	1996407				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Caucasian		Y Wang	4049	Hs.36			Scandinavian journal of immunology. 1991 Jan;33(1):37-49	A tumour necrosis factor beta gene polymorphism in relation to monokine secretion and insulin-dependent diabetes mellitus.		153440	4384	1	2004												
129952		Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p21.3	LTA	31647718	31650077		Iwanaga Y 2004	14709378				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese	Japan	KGB	4049	Hs.36			Atherosclerosis. 2004 Jan;172(1):197-8	Association analysis between polymorphisms of the lymphotoxin-alpha gene and myocardial infarction in a Japanese population.		153440	4386	1	2004												
129945		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077		Rau H 2004	9174153				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			Y Wang	4049	Hs.36			Tissue antigens. 1997 May;49(5):535-6	Polymorphisms of tumor necrosis factor receptor 2 are not associated with insulin-dependent diabetes mellitus or Graves' disease		153440	4379	1	2004												
129947		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077		Pociot F 2004	8093442				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			Y Wang	4049	Hs.36			European journal of immunology. 1993 Jan;23(1):224-31	Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus		153440	4381	1	2004												
129948		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	LTA	31647718	31650077		Kim HY1995	7495771				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Korean		Y Wang	4049	Hs.36			The Korean journal of internal medicine. 1995 Jul;10(2):130-6	TNFB gene polymorphism in patients with systemic lupus erythematosus in Korean.		153440	4382	1	1995	 Our results suggest that genetic predisposition of TNFB*2 homozygote is another risk factor in Korean SLE, especially in DR2 negative patients. In addition, TNFB*2 homozygote could have a tendency for the development of nephritis in patients with SLE.											
129941		chronic periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Fassmann A 2003	12828656				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Czech	Czech Republic	KGB	4049	Hs.36			Journal of periodontal research. 2003 Aug;38(4):394-9	Polymorphisms in the +252(A/G) lymphotoxin-alpha and the -308(A/G) tumor necrosis factor-alpha genes and susceptibility to chronic periodontitis in a Czech population.		153440	4375	1	2003	 Our data suggest that combined genotypes composed of the TNF-alpha and LT-alpha gene polymorphisms may influence the susceptibility to chronic periodontitis. We also showed that, comparing the two genes, the 1/1 genotype of the NcoI polymorphism in the first intron of the LT-alpha gene is a more informative marker and it may be one of the protective genetic factors against chronic periodontitis in our population.											
129942		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	LTA	31647718	31650077		Zhang J 1996	9275640				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		China	Y Wang	4049	Hs.36			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1996 Jan;35(1):19-22	Study on some susceptible genes of systemic lupus erythematosus in Han nationality of China		153440	4376	1	1996												
129943	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	6	6p21.3	LTA	31647718	31650077	p < 0.001	Vendrell J1995	7783649			other	Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Caucasian		Y Wang	4049	Hs.36	Complications		Metabolism:  clinical and experimental. 1995 Jun;44(6):691-4	A tumor necrosis factor-beta polymorphism associated with hypertriglyceridemia in non-insulin-dependent diabetes mellitus.		153440	4377	1	1995		Case:61; Control:91										
129937	Y	urinary tract infections after renal transplantation	OTHER	OTH	Urinary Tract Infections	6	6p21.3	LTA	31647718	31650077		Kimball P et al. 2002	11965041				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Transplantation. 2002 Apr;73(7):1110-2	Tumor necrosis factor beta gene polymorphisms associated with urinary tract infections after renal transplantation.		153440	4371	1	2002	 TNFbeta low was associated with urinary tract infections and TNFbeta high was associated with freedom from urinary tract infections. Neither gene correlated with rejection or l-year graft survival.											
129939		Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	LTA	31647718	31650077		Izakovicova Holla L 2001	11591192				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Czech	Czech Republic	KGB	4049	Hs.36			Clinical and experimental allergy. 2001 Sep;31(9):1418-23	The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.		153440	4373	1	2001	 Several reports have indicated that different HLA products and genes may be risk factors for or protective factors against the development of atopy. We report no association between polymorphisms in the LT-alpha and TAP-1 genes alone and atopic diseases in the central Europe Caucasian (Czech) population, but there was an interesting interaction between the TAP333 and LT-alpha polymorphisms.	Control:184 Caucasian Czech healthy controls central Europe;Case:243 Caucasian Czech patients with histories of atopic asthma, allergic rhinitis and atopic dermatitis or their combinations central Europe		TAP333		LT-alpha				Y		atopic diseases
129940		infectious risk and outcome in surgical intensive care patients	INFECTION	INF	Cross Infection|Sepsis|Shock, Septic|Critical Illness|Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	6	6p21.3	LTA	31647718	31650077		Calvano JE 2003	12906716				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Surgical infections. 2003 ;4(2):163-9	Influence of the TNF-alpha and TNF-beta polymorphisms upon infectious risk and outcome in surgical intensive care patients.		153440	4374	1	2003	 The presence of the A allele at these polymorphic sites did not predispose critically ill surgical patients to either infection or septic shock.											
129933		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	LTA	31647718	31650077		Hayden 1998	9645594	LT-alphaNco1*2			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Australia	KCB	4049	Hs.36			Clinical and experimental allergy. 1998 May;28(5):578-84			153440	4367	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
129934	Y	atopy	IMMUNE	IMM		6	6p21.3	LTA	31647718	31650077		Trabetti E et al. 1999	10227402				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Italian		KGB	4049	Hs.36			Journal of medical genetics. 1999 Apr;36(4):323-5	Association of a lymphotoxin alpha gene polymorphism and atopy in Italian families.		153440	4368	1	1999												
129935	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Ozaki K et al. 2002	12426569				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Nature genetics. 2002 Dec;32(4):650-4	Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.		153440	4369	1	2002												
129936	Y	Palmoplantar pustulosis	OTHER	OTH	Psoriasis	6	6p21.3	LTA	31647718	31650077		Hashigucci K et al. 1999	10519368				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Tissue antigens. 1999 Sep;54(3):288-90	Polymorphism in the tumor necrosis factor B gene is associated with Palmoplantar pustulosis.		153440	4370	1	1999												
129929		Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	LTA	31647718	31650077		Izakovicova Holla L 2001	11591192				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Czech Republic	KGB	4049	Hs.36			Clinical and experimental allergy. 2001 Sep;31(9):1418-23	The interaction of the polymorphisms in transporter of antigen peptides (TAP) and lymphotoxin alpha (LT-alpha) genes and atopic diseases in the Czech population.		153440	4363	1	2001	 Several reports have indicated that different HLA products and genes may be risk factors for or protective factors against the development of atopy. We report no association between polymorphisms in the LT-alpha and TAP-1 genes alone and atopic diseases in the central Europe Caucasian (Czech) population, but there was an interesting interaction between the TAP333 and LT-alpha polymorphisms.	Control:184 Caucasian Czech healthy controls central Europe;Case:243 Caucasian Czech patients with histories of atopic asthma, allergic rhinitis and atopic dermatitis or their combinations central Europe		TAP333		LT-alpha				Y		atopic diseases
129930		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	LTA	31647718	31650077		Albuquerque R 1998	9645594	LT-alpha*2			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2		Australia	KCB	4049	Hs.36			Clinical and experimental allergy. 1998 May;28(5):578-84			153440	4364	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
129932		community-acquired pneumonia (CAP)	INFECTION	INF	Sepsis|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Fang XM 1999	10446828	TNF-beta NcoI			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	93 severe sepsis	Germany	KGB	4049	Hs.36			Critical care medicine. 1999 Jul;27(7):1330-4			153440	4366	1	1999	 In contrast to the TNF-beta NcoI polymorphism, which has been associated with patients' nonsurvival, the allele IL-1raA2 of the polymorphism within the intron 2 of IL-1ra may contribute to susceptibility to sepsis.											
129925	N	COPD. bronchiectasis	OTHER	OTH	Bronchiectasis|Lung Diseases, Obstructive	6	6p21.3	LTA	31647718	31650077	n	Patuzzo C 2000	10807822	LT-alphaNcoI*1			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Italian		KGB	4049	Hs.36			Chest. 2000 May;117(5):1353-8			153440	4359	1	2000	 We conclude that the TNF gene complex, at least in Caucasoid individuals and for the considered polymorphisms, does not seem to play a major role as genetic risk factor in COPD and bronchiectasis.											
129926	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077	n	Hakonarson H 2001	11739132	Int1. A89G (Ncol*1)			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Icelandic	Iceland	KCB	4049	Hs.36			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			153440	4360	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
129928	N	Asthma. DRS. total IgE. eosinophilia	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077	n	Immervoll T 2001	11668616	T939C			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	German. Swedish		KCB	4049	Hs.36			Human mutation. 2001 Oct;18(4):327-36			153440	4362	1	2001												
129921		community-acquired pneumonia (CAP)	INFECTION	INF	Pneumonia, Bacterial|Community-Acquired Infections|Shock, Septic|Respiratory Insufficiency	6	6p21.3	LTA	31647718	31650077	0.006	Waterer G 2001	11401880	LTA+250 (TNFB+250)			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	31 SS pts		KGB	4049	Hs.36			American journal of respiratory and critical care medicine. 2001 Jun;163(7):1599-604			153440	4355	1	2001												
129922		community-acquired pneumonia (CAP)	INFECTION	INF	Sepsis|Disease Progression	6	6p21.3	LTA	31647718	31650077	NS	Weitkamp JH 2000	10782394				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	23 neonates		KGB	4049	Hs.36			Infection. 2000 Mar-Apr;28(2):92-6			153440	4356	1	2000												
129924	Y	Asthma	IMMUNE	IMM	Asthma	6	6p21.3	LTA	31647718	31650077	P=0.019	Albuquerque R 1998	9645594	LT-alphaNco1*2			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Australian	Australia	KCB	4049	Hs.36			Clinical and experimental allergy. 1998 May;28(5):578-84			153440	4358	1	1998	 These results suggest an important role for the TNFalpha gene or a linked locus in an inherited asthma diathesis.											
129917		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Autoimmune Diseases|Disease Susceptibility	6	6p21.3	LST1	31661949	31664665		Rau H 2004	8547234				Leukocyte specific transcript 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007161.2			Y Wang	7940	Hs.436066			European journal of immunogenetics. 1995 Jun;22(3):277-82	PVU II polymorphism of LST-1 (leucocyte specific transcript-1) in type I diabetes mellitus, Graves' disease and healthy controls		109170	6560	1	2004												
129919	N	Coronary Heart Disease and Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	6	6p21.3	LTA	31647718	31650077	n	Koch W 2001	11689215	TNF- beta promoter polymorphism 252G/A			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Atherosclerosis. 2001 Nov;159(1):137-44			153440	4353	1	2001												
129920	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077	n	Hakonarson H 2001	11739132	The60Asp			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Icelandic	Iceland	KCB	4049	Hs.36			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			153440	4354	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
129913		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Goldwurm, S.  et al. 2005	16272257				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Journal of medical genetics. 2005 Nov;42(11):e65	The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.		609007	18103	2	2005	 G2019S is the most common genetic determinant of Parkinson's disease identified so far. It is especially frequent among cases with familial Parkinson's disease of both early and late onset, but less common among sporadic cases. These findings have important implications for diagnosis and genetic counselling in Parkinson's disease.											
129914		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Infante, J.  et al. 2005	16298482				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Spanish		CDC GDPinfo	120892	Hs.187636			Neuroscience letters. 2005	LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.		609007	18104	2	2005												
129916		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Paisan-Ruiz, C.  et al. 2005	16157901				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology. 2005 Sep;65(5):696-700	LRRK2 gene in Parkinson disease: mutation analysis and case control association study.		609007	18909	2	2005	 The results support the prior suggestion that LRRK2 mutations cause PD. The disease in the families reported here presents a phenotype indistinguishable from typical PD. All three families demonstrate a very variable age at onset that is not explained by APOE genotypes. The common coding variations in the LRRK2 gene neither constitute strong PD risk factors nor modify the age at onset; however, the possibility of a modest risk effect remains to be assessed in large datasets.											
129909		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Movement Disorders|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Kay, D. M.  et al. 2005	16250030				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Movement disorders. 2005	Parkinson's disease and LRRK2: Frequency of acommon mutation in U.S. movement disorder clinics.		609007	18099	2	2005												
129910		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Berg, D.  et al. 2005	16251215				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Brain. 2005 Dec;128(Pt 12):3000-11	Type and frequency of mutations in the LRRK2 gene in familiar and sporadic Parkinson's disease.		609007	18100	2	2005												
129911	N	Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Biskup, S.  et al. 2005	16254973				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Germany	CDC GDPinfo	120892	Hs.187636			Annals of neurology. 2005 Dec;58(6):905-8	Common variants of LRRK2 are not associated with sporadic Parkinson's disease.		609007	18101	2	2005												
129912		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Skipper, L.  et al. 2005	16269443				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Human molecular genetics. 2005 Dec;14(23):3549-56	Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease.		609007	18102	2	2005												
129905		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Paisan-Ruiz, C.  et al. 2005	16157901				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology. 2005 Sep;65(5):696-700	LRRK2 gene in Parkinson disease: mutation analysisand case control association study.		609007	18095	2	2005	 The results support the prior suggestion that LRRK2 mutations cause PD. The disease in the families reported here presents a phenotype indistinguishable from typical PD. All three families demonstrate a very variable age at onset that is not explained by APOE genotypes. The common coding variations in the LRRK2 gene neither constitute strong PD risk factors nor modify the age at onset; however, the possibility of a modest risk effect remains to be assessed in large datasets.											
129906		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Farrer, M.  et al. 2005	16157908				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology. 2005 Sep;65(5):738-40	LRRK2 mutations in Parkinson disease.		609007	18096	2	2005												
129907		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Zabetian, C. P.  et al. 2005	16157909				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology. 2005 Sep;65(5):741-4	A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.		609007	18097	2	2005												
129908		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Lesage, S.  et al. 2005	16240353				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	French		CDC GDPinfo	120892	Hs.187636			Annals of neurology. 2005 Nov;58(5):784-7	G2019S LRRK2 mutation in French and North African families with Parkinson's disease.		609007	18098	2	2005												
129901		Parkinson's disease	NEUROLOGICAL	NEUR		12	12q12	LRRK2	38905080	39049353		Zabetian, C. P.  et al. 2005	15987882				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology    2005	A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.		609007	18091	2	2005												
129902		Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	12	12q12	LRRK2	38905080	39049353		Toft, M.  et al. 2005	16087219				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Mechanisms of ageing and development. 2005 Nov;126(11):1201-5	LRRK2 mutations are not common in Alzheimer's disease.		609007	18092	2	2005												
129903	Y	Alzheimer's disease; Parkinson's disease; progressive supranuclear palsy; dementia, frontotemporal; multiple system atropy	NEUROLOGICAL	NEUR	Neurodegenerative Diseases|Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Hernandez, D.  et al. 2005	16102903				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		United States	CDC GDPinfo	120892	Hs.187636			Neuroscience letters. 2005 Dec;389(3):137-9	The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other NEUROLOGICALenerative diseases.		609007	18093	2	2005												
129904		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Bialecka, M.  et al. 2005	16115731				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Poland	CDC GDPinfo	120892	Hs.187636			Neuroscience letters. 2005 Dec;390(1):3-Jan	Analysis of LRRK 2 G 2019 S and I 2020 T mutations in Parkinson's disease.		609007	18094	2	2005												
129897		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Gilks, W. P.  et al. 2005	15680457				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Lancet. 2005 Jan;365(9457):415-6	A common LRRK2 mutation in idiopathic Parkinson's disease.		609007	18087	2	2005	We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease.	Cohort 482 patients with Parkinson's disease 										
129898		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Mata, I. F.  et al. 2005	15925109				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Spanish	Spain	CDC GDPinfo	120892	Hs.187636			Neuroscience letters. 2005 Jul;382(3):309-11	LRRK2 R1441G in Spanish patients with Parkinson's disease.		609007	18088	2	2005	Although patients with a Lrrk2 R1441G substitution are apparently unrelated, they share a chromosome 12q12 haplotype not found in controls and indicative of a common founder.	Control:controls;Case:225 patients with Parkinson's disease Asturias, Northern Spain										
129899		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Tan, E. K.  et al. 2005	15955629				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Asia|Singapore	CDC GDPinfo	120892	Hs.187636			Neuroscience letters. 2005 Aug;384(3):327-9	The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.		609007	18089	2	2005												
129900		Parkinson's disease	NEUROLOGICAL	NEUR		12	12q12	LRRK2	38905080	39049353		Farrer, M.  et al. 2005	15972842				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDPinfo	120892	Hs.187636			Neurology    2005	LRRK2 mutations in Parkinson disease.		609007	18090	2	2005												
129894		venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	4	4p16.3	LRPAP1	3484092	3503942		Cunningham, N.  et al. 2005	16175004				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			CDC GDPinfo	4043	Hs.533136			Blood coagulation & fibrinolysis. 2005 Oct;16(7):465-8	Low-density lipoprotein receptor-related protein polymorphisms in patients with elevated factor VIII coagulant activity and venous thrombosis.		104225	22781	2	2005	We conclude that  LRP1 and LRPAP1 polymorphisms are not responsible for high FVIII:C levels in patients with VTE.											
129895		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p16.3	LRPAP1	3484092	3503942		Hashim, Y.  et al. 2001	11793025				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1	Caucasian		CDC GDPinfo	4043	Hs.533136			Diabetologia. 2001 Dec;44(12):2227-30	Butyrylcholinesterase K variant on chromosome 3 q is associated with Type II diabetes in white Caucasian subjects.		104225	25202	2	2001	The association of the BcHE gene (3q26) with Type II diabetes could be related to an identified susceptibility locus on chromosome 3q27 but appears to be independent of islet function. The absence of diabetes-specific associations with alpha2M, ApoE or ApoE promoter variants suggest that these are not important in the onset of hyperglycaemia.	Case:276 type 2 diabetic subjects from United Kingdom Prospective Diabetes Study;Control:351 non-diabetic subjects from the Diabetes In Families:study										
129896	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4p16.3	LRPAP1	3484092	3503942		Gonzalez, P.  et al. 2002	12394648				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			CDC GDPinfo	4043	Hs.533136			Coronary artery disease. 2002 Aug;13(5):251-4	Variation in the lipoprotein receptor-related protein,alpha2-macroglobulin and lipoprotein receptor-associatedprotein genes in relation to plasma lipid levels and riskof early myocardial infarction		104225	25203	2	2002	 According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI.	Control:200 healthy controls;Case:210 patients with early myocardial infarction (<55:years)										
129891	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	4	4p16.3	LRPAP1	3484092	3503942		Sanchez L et al. 2001	11425005				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			KGB	4043	Hs.533136			American journal of medical genetics. 2001 Jan;105(1):76-8	Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease.		104225	4348	1	2001	According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.	Control:100 healthy elderly controls;Control:300 controls (not otherwise specified in abstract);Case:373 late-onset Alzheimer disease patients										
129892	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4p16.3	LRPAP1	3484092	3503942		Gonzalez P et al. 2002	12394648				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			KGB	4043	Hs.533136			Coronary artery disease. 2002 Aug;13(5):251-4	Variation in the lipoprotein receptor-related protein alpha2-macroglobulin and lipoprotein receptor-associated protein genes in relation to plasma lipid levels and risk of early myocardial infarction.		104225	4349	1	2002	 According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI.	Control:200 healthy controls;Case:210 patients with early myocardial infarction (<55:years)										
129893	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	4	4p16.3	LRPAP1	3484092	3503942		Sanchez, L.  et al. 2001	11425005				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			CDC GDPinfo	4043	Hs.533136			American journal of medical genetics. 2001 Jan;105(1):76-8	Variation in the LRP-associated protein gene (LRPAP1) is associated with late-onset Alzheimer disease.		104225	18085	2	2001	According to our data, the variation at the LRPAP1 gene is associated with the risk of developing LOAD. This is in agreement with the role of the LRPAP1 protein in the amyloidogenic pathway.	Control:100 healthy elderly controls;Control:300 controls (not otherwise specified in abstract);Case:373 late-onset Alzheimer disease patients										
129888		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p34	LRP8	53483799	53566409		Ma, S. L.  et al. 2002	12399018				Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004631.3			CDC GDPinfo	7804	Hs.576154			Neuroscience letters. 2002 Nov;332(3):216-8	Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease		602600	12241	2	2002		Control:184 elderly control subjects;Case:204 Alzheimer's disease patients										
129889		normal variation	NORMALVARIATION	NV		4	4p16.3	LRPAP1	3484092	3503942		Van Leuven F et al. 1998	9782079				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			KGB	4043	Hs.533136			Genomics. 1998 Sep;52(2):145-51	Analysis of the human LRPAP1 gene coding for the lipoprotein receptor-associated protein: identification of 22 polymorphisms and one mutation.		104225	4346	1	1998												
129890		plasma apolipoprotein AI (apoAI) and high-density lipoprotein cholesterol (HDL) levels	OTHER	OTH	Coronary Disease|Hypertension	4	4p16.3	LRPAP1	3484092	3503942		Benes P et al. 2000	10845573				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			KGB	4043	Hs.533136			Clinical genetics. 2000 Apr;57(4):309-10	Relation between the insertion/deletion polymorphism in the gene coding for receptor associated protein (RAP) and plasma apolipoprotein AI (apoAI) and high-density lipoprotein cholesterol (HDL) levels.		104225	4347	1	2000												
129884	Y	bone density	METABOLIC	MET	Osteoporosis	11	11q13.4	LRP5	67836683	67973319		Mizuguchi, T.  et al. 2004	14727154				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1		Japan	CDC GDPinfo	4041	Hs.6347			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		603506	26383	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
129885		bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Lau, H. H.  et al. 2005	15781005				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Chinese		CDC GDPinfo	4041	Hs.6347			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		603506	27076	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
129887		macular degeneration, age-related	VISION	VIS	Macular Degeneration	12	12p11-p13	LRP6	12160229	12311013			16384981				Low density lipoprotein receptor-related protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002336.1			CDC GDPinfo	4040	Hs.584775			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		603507	27077	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
129880		bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Koller, D. L.  et al. 2005	15619672				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Journal of bone and mineral research. 2005 Jan;20(1):75-80	Contribution of the LRP5 Gene to Normal Variation in Peak BMD in Women		603506	18081	2	2005	 The linkage disequilibrium pattern and haplotype block structure within the LRP5 gene were consistent with that observed in other studies. Although significant evidence of association was found between LRP5 SNPs and both hip and spine BMD, only a small proportion of the total variation in these phenotypes was accounted for. The genotyped SNPs accounted for approximately 0.8% of the variation in femoral neck BMD and 1.1% of the variation in spine BMD. Results from our sample suggest that natural variation in and around LRP5 is not a major contributor to the observed variability in peak BMD at either the femoral neck or lumbar spine in white women.	Cohort 1,301 premenopausal women 										
129882		bone density; fracture risk	METABOLIC	MET	Osteoporosis|Fractures, Bone	11	11q13.4	LRP5	67836683	67973319			16355283				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Journal of bone and mineral research. 2006 Jan;21(1):141-50	Common genetic variation of the low-density lipoprotein receptor-related protein 5 and 6 genes determines fracture risk in elderly white men		603506	18084	2	2006	 In men, the LRP5 1330-valine variant was associated with decreased BMD at the lumbar spine and the femoral neck with evidence for an allele-dose effect (p = 0.001 and 0.01, respectively). The Val allele was also associated with decreased vertebral body size and femoral neck width. Haplotype analysis of studied polymorphisms did not improve the association found and suggested that the 1330 variant was driving the association. We observed a borderline significant association of the LRP6 Ile1062Val polymorphism with height and vertebral body size in males. Male carriers of the LRP5 1330-valine variant had a 60% increased risk for fragility fractures, and the LRP6 1062-valine allele also conferred a 60% higher risk. Carriers of both the risk alleles of LRP5 and 6 had a 140% (p = 0.004) higher risk compared with noncarriers of both risk alleles and accounted for 10% of the fractures in males. The fracture risks were independent of age, height, weight, and BMD. In women, all of these associations were weaker and less consistent compared with men. The polymorphisms that were found associated were both situated in potentially important domains of the receptor and show considerable evolutionary conservation, which is evidence for functional importance of these residues.			LRP6	Ile1062Val	LRP5	1330			Y		bone fracture risk
129883		retinopathy	VISION	VIS	Osteoporosis|Vitreoretinopathy, Proliferative	11	11q13.4	LRP5	67836683	67973319		Qin, M.  et al. 2005	15981244				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Human mutation. 2005 Aug;26(2):104-12	Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.		603506	22779	2	2005												
129877	Y	fractures	OTHER	OTH	Fractures, Bone	11	11q13.4	LRP5	67836683	67973319		Bollerslev, J.  et al. 2005	15777745				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Australian	Australia	CDC GDPinfo	4041	Hs.6347			Bone. 2005 Apr;36(4):599-606	LRP5 gene polymorphisms predict bone mass and incident fractures in elderly Australian women.		603506	12238	2	2005	In conclusion, genetic variation in LRP5 seems to be of importance for regulation of bone mass and osteoporotic fractures.	Cohort 1,301 women from a well-described, large cohort of normal, ambulatory Australian women Australia 										
129878		bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Zhang, Z. L.  et al. 2005	16115379				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Chinese		CDC GDPinfo	4041	Hs.6347			Acta pharmacologica Sinica. 2005 Sep;26(9):1111-6	Association of polymorphisms in low-density lipoprotein receptor-related protein 5 gene with bone mineral density in postmenopausal Chinese women.		603506	12239	2	2005	 Our findings suggest that the LRP5 gene is a candidate for the genetic determination of BMD in postmenopausal Chinese women.											
129873	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Ferrari, S. L.  et al. 2004	15077203				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			American journal of human genetics. 2004 May;74(5):866-75	Polymorphisms in the Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone Size, and Stature in Whites		603506	12234	2	2004	Together, these results suggest that LRP5 variants significantly contribute to LS-bone-mass and size determination in men by influencing vertebral bone growth during childhood.	Cohort 899 healthy whites of both sexes 										
129874	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Koh, J. M.  et al. 2004	15201508				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Korean		CDC GDPinfo	4041	Hs.6347			Journal of Korean medical science. 2004 Jun;19(3):407-12	Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.		603506	12235	2	2004	Although we failed to demonstrate a clear association between the LRP5 polymorphism and peak bone mass in young men, the present study suggests that larger-scale studies on the Q89R polymorphism need to be performed.	Cohort 219 Korean men aged 20-34 years 										
129875	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Urano, T.  et al. 2004	15221492				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Journal of bone and mineral metabolism. 2004 ;22(4):341-5	Association of a single-nucleotide polymorphism in low-density lipoprotein receptor-related protein 5 gene with bone mineral density.		603506	12236	2	2004	These findings suggest that the LRP5 gene is a candidate for the genetic determinants of BMD in postmenopausal women, and this SNP could be useful as a genetic marker for predicting the risk of osteoporosis.	Cohort 308 postmenopausal Japanese women (65.2 +/- 9.6 years; mean +/- SD) 										
129869		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392		Cacabelos, R.   2002	12452480				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		107770	28079	2	2002	Review article											
129870		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Prince, J. A.  et al. 2001	11436125				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1		Sweden	CDC GDPinfo	4035	Hs.162757			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		107770	28240	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
129871	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q13.4	LRP5	67836683	67973319	n	Twells RC et al. 2003	12700977				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			Y Wang	4041	Hs.6347			Human genetics. 2003 Jul;113(2):99-105	Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1diabetes.		603506	4344	1	2003												
129866		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392		Pritchard, A.  et al. 2005	15925094				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Neuroscience letters. 2005 Jul;382(3):221-6	Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease.		107770	22776	2	2005	Therefore, in this present study, we find no evidence for the involvement of this polymorphism either in increasing the susceptibility to AD, or by acting as a phenotypic modifier.	Control:4,473:controls;Case:4,668 Alzheimer's disease patients;Control:466 matched controls;Case:477 Alzheimer's disease patients:UK										
129867		cerebral amyloid angiopathy; senile plaques	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392			16328515				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Acta neuropathologica. 2006 Jan;111(1):15-20	A 3'-UTR polymorphism in the oxidized LDL receptor 1 gene increases Abeta(40) load as cerebral amyloid angiopathy in Alzheimer's disease		107770	22777	2	2005												
129868		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Luedecking-Zimmer, E.  et al. 2003	12555245				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):114-7	Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.		107770	22778	2	2003	Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD.	Control:523:controls;Case:564 Alzheimer's disease cases										
129863	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Hatanaka, Y.  et al. 2000	11076057				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Japanese	Japan	CDC GDPinfo	4035	Hs.162757			Clinical genetics. 2000 Oct;58(4):319-23	Low density lipoprotein receptor-related protein gene polymorphisms and risk for late-onset Alzheimer's disease in a Japanese population.		107770	22773	2	2000	These results support the possibility that ApoE and LRP may contribute to the development of AD.	Case:100 Japanese patients affected by late-onset Alzheimer's disease;Control:246 controls matched for age										
129864		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Panza, F.  et al. 2004	15048651				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1		Italy	CDC GDPinfo	4035	Hs.162757			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):69-73	Regional European differences in allele and genotype frequencies of low density lipoprotein receptor-related protein 1 polymorphism in Alzheimer's disease		107770	22774	2	2004	No statistically significant differences in frequencies between LRP1 alleles and AD among APOE allele, age, or gender strata were found. Finally, comparing our results with the findings from other European populations, the LRP1 C allele frequency showed a statistically significant decreasing trend from Northern to Southern regions of Europe, with a concomitant increase in LRP1 T allele frequency, but in AD patients only. Finally, in the AD sample, a decreasing geographical trend from North to South of Europe was found for LRP1 CC genotype, and an inverse trend for LRP1 CT genotype frequency. We suggest that these regional variations in LRP1 genotype and allele frequencies in AD could be related to the different patterns of association between this polymorphism and the disease in various European studies.	Case:166 sporadic Alzheimer's disease patients southern Italy;Control:225 sex- and age-matched nondemented controls										
129865	Y	cerebral amyloid angiopathy	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Christoforidis, M.  et al. 2005	15634227				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Neuropathology and applied neurobiology. 2005 Feb;31(1):9-Nov	Genetic-morphologic association study: associationbetween the low density lipoprotein-receptor related protein (LRP) and cerebral amyloid angiopathy.		107770	22775	2	2005	Our results lead us to postulate that the LRP5'87 bp and the LRP exon 3 C alleles of the LRP gene (or another locus that might be in linkage disequilibrium with these LRP polymorphic sites) could modify cerebrovascular LRP function or expression in noncapillary cerebral vessels, leading to an increased cerebrovascular amyloid deposition.	Cohort 125 post-motem cerebral amyloid angiopathy cases 										
129860		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Bian, L.  et al. 2005	16040006				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Chinese	China	CDC GDPinfo	4035	Hs.162757			Biological psychiatry. 2005 Nov;58(9):731-7	Association study of the A2M and LRP1 Genes with Alzheimer disease in the Han Chinese.		107770	22770	2	2005	 Our results indicate that the CTCG haplotype of LRP1 may reduce the risk of late-onset AD, but A2M is not associated with this disease in the Han Chinese population.											
129861		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12q13-q14	LRP1	55808548	55893392		Gonzalez, P.  et al. 2002	12394648				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Coronary artery disease. 2002 Aug;13(5):251-4	Variation in the lipoprotein receptor-related protein,alpha2-macroglobulin and lipoprotein receptor-associatedprotein genes in relation to plasma lipid levels and riskof early myocardial infarction		107770	22771	2	2002	 According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI.	Control:200 healthy controls;Case:210 patients with early myocardial infarction (<55:years)										
129857		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392			16362633				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Colombian		CDC GDPinfo	4035	Hs.162757			J Neural Transm. 2005	Association study of polymorphisms in LRP1, tau and 5-HTT genes and Alzheimer's disease in a sample of Colombian patients		107770	12233	2	2005												
129858		cholesterol; cholesterol, HDL; cholesterol, LDL	METABOLIC	MET	Hyperlipoproteinemia Type II	12	12q13-q14	LRP1	55808548	55893392		Chaves, F. J.  et al. 2001	11600564				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			The Journal of clinical endocrinology and metabolism. 2001 Oct;86(10):4926-32	Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influenceof low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol		107770	18074	2	2001	Subjects with familial hypercholesterolemia with null mutations (class I) showed lower plasma high-density lipoprotein cholesterol values and a poor low-density lipoprotein cholesterol response to simvastatin treatment.	Cohort 42 genetically diagnosed subjects with familial hypercholesterolemia from a South European outbreed population Europe 	simvastatin									
129859		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392		Schulz, S.  et al. 2002	12402342				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Human mutation. 2002 Nov;20(5):404	The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences.		107770	18076	2	2002	However, the LRP1/A2MR gene expression was found to be independent of all identified novel genomic variants as well as other previously described changes (A217V, A775P, D2080N, D2632E, G4379S) except the promoter polymorphism.	Case:214 coronary patients suffering from myocardial:infarction;Control:224 healthy controls										
129854	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Alzheimer Disease|Coronary Artery Disease|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392		Pocathikorn, A.  et al. 2003	12732394				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1		Australia	CDC GDPinfo	4035	Hs.162757			Atherosclerosis. 2003 May;168(1):115-21	Influence of exonic polymorphisms in the gene for LDL receptor-related protein (LRP) on risk of coronary artery disease		107770	12228	2	2003	In conclusion, LRP gene polymorphisms, particularly the relatively common exon 22 C200T polymorphism, are a significant risk factor for premature CAD in Caucasians.	Case:600 Caucasian subjects aged <50 years with angiographic:CAD;Control:700 similarly aged subjects without symptomatic CAD randomly selected from the community										
129855	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392		Benes, P.  et al. 2003	12793904				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Caucasian		CDC GDPinfo	4035	Hs.162757			Breast cancer research. 2003 ;5(3):R77-81	C766T low-density lipoprotein receptor-related protein 1 (LRP1) gene polymorphism and susceptibility to breast cancer.		107770	12229	2	2003	 The T allele of the C766T polymorphism in the LRP1 gene is associated with an increased risk of breast cancer development in women of Caucasian origin.	Case:164 women with breast cancer;Control:183 age-compatible women without a history of any cancer disease										
129856		venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	12	12q13-q14	LRP1	55808548	55893392		Cunningham, N.  et al. 2005	16175004				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Blood coagulation & fibrinolysis. 2005 Oct;16(7):465-8	Low-density lipoprotein receptor-related protein polymorphisms in patients with elevated factor VIII coagulant activity and venous thrombosis.		107770	12231	2	2005	We conclude that  LRP1 and LRPAP1 polymorphisms are not responsible for high FVIII:C levels in patients with VTE.											
129850	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Wavrant-DeVrieze F et al. 1999	10394937				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1		France	KGB	4035	Hs.162757			Human genetics. 1999 May;104(5):432-4	Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease.		107770	4341	1	1999												
129851	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392	n	Fallin D et al. 1997	9350853				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			Neuroscience letters. 1997 Sep;233(3-Feb):145-7	No association between the low density lipoprotein receptor-related protein (LRP) gene and late-onset Alzheimer's disease in a community-based sample.		107770	4342	1	1997												
129852	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Wavrant-DeVrieze F et al. 1997	9178861				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			Neuroscience letters. 1997 May;227(1):68-70	Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease.		107770	4343	1	1997												
129846		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Lambert JC et al. 1998	9635959				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			Lancet. 1998 Jun;351(9118):1787-8	Association at LRP gene locus with sporadic late-onset Alzheimer's disease.		107770	4337	1	1998												
129847		serum lipoprotein lipid and apolipoprotein levels	METABOLIC	MET		12	12q13-q14	LRP1	55808548	55893392		Harris MR et al. 1998	9568751				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			Atherosclerosis. 1998 Mar;137(1):187-95	Racial differences in the distribution of a low density lipoprotein receptor-related protein (LRP) polymorphism and its association with serum lipoprotein lipid and apolipoprotein levels.		107770	4338	1	1998												
129848		Coronary Artery Disease. Plasma Lipoproteins. and Longevity	CARDIOVASCULAR	CARD	Coronary Disease	12	12q13-q14	LRP1	55808548	55893392		Benes P 2001	11357934	C766T			low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Czech Caucasian	Czech Republic	TJB	4035	Hs.162757			Journal of molecular medicine (Berlin, Germany). 2001 Apr;79(3-Feb):116-20			107770	4339	1	2001		Case:654; Control:525										
129849	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases	12	12q13-q14	LRP1	55808548	55893392	n	Myllykangas L 2000	11018310				low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Finnish	Finland	TJB	4035	Hs.162757			Neuroscience letters. 2000 Oct;292(3):195-8			107770	4340	1	2000		Case:113; Control:203										
129842		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	8	8p22	LPL	19841057	19869049		Zee, R. Y.  et al. 2002	12082592				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		609708	28655	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129843	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392	0.013	Kolsch H 2003	12898587	C766T		unknown	Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):128-30	Association of the C766T polymorphism of the low-density lipoprotein receptor-related protein gene with Alzheimer's disease.		107770	4334	1	2003		Case:212; Control:337										
129844	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392	n	Causevic M 2003	14575236				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			KGB	4035	Hs.162757			Journal of neuropathology and experimental neurology. 2003 Oct;62(10):999-1005	Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype.		107770	4335	1	2003												
129839		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	8	8p22	LPL	19841057	19869049		Pallaud, C.  et al. 2001	11341749				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		France|Italy	CDC GDPinfo	4023	Hs.180878			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		609708	28298	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
129840		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p22	LPL	19841057	19869049		Liljedahl, U.  et al. 2003	12544508				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		609708	28521	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
129841		diabetes, type 2; liver disease	OTHER	OTH	Hepatitis, Toxic|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Watanabe, I.  et al. 2003	12732844				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Japanese	Japan	CDC GDPinfo	4023	Hs.180878			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		609708	28607	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
129836	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049		Sass, C.  et al. 2004	15076187				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		609708	28168	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
129837		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	8	8p22	LPL	19841057	19869049		Kornman, K. S.  et al. 2001	11887471				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		609708	28238	2	2001	Review Article											
129838		atherosclerosis, coronary	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049		Ortlepp, J. R.  et al. 2002	12446192				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		609708	28239	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
129833		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	8	8p22	LPL	19841057	19869049			16369102				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		609708	27964	2	2006			diet family history stress									
129834		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Bertolini, S.  et al. 2004	15135251				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		609708	27965	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
129835		lipid metabolism	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Pallaud, C.  et al. 2001	11714857				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		609708	28078	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
129830		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Masana, L.  et al. 2001	11171287				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Spanish	Spain	CDC GDPinfo	4023	Hs.180878			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		609708	27539	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
129831		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	8	8p22	LPL	19841057	19869049		Baroni, M. G.  et al. 2003	12964943				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Italian	Italy	CDC GDPinfo	4023	Hs.180878			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		609708	27540	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
129832		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	8	8p22	LPL	19841057	19869049		van Aalst-Cohen, E. S.  et al. 2005	16030523				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		609708	27787	2	2005			alcohol beta blockers body mass smoking (tobacco)									
129827		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	8	8p22	LPL	19841057	19869049		Retz, W.  et al. 2001	11702052				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Psychiatric genetics. 2001 Sep;11(3):115-22	Potential genetic markers of sporadic Alzheimer's dementia		609708	27075	2	2001	We conclude that , apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease.	Case patients suffering from Alzheimer's dementia;Control non-demented psychiatric patients										
129828		triglycerides	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Ribalta, J.  et al. 2005	15764642				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		609708	27537	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
129829		triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Souverein, O. W.  et al. 2005	15657615				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		609708	27538	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
129824		lipids	METABOLIC	MET	Coronary Disease	8	8p22	LPL	19841057	19869049		Talmud, P. J.  et al. 2001	11533368				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Pediatrics. 2001 Sep;108(3):E50	Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study.		609708	26380	2	2001	 All genotypes were associated with clear relationships to plasma lipid levels in adults, but the effects were weaker in their children, unless stressed by body fat. atherosclerosis, cardiovascular disease, child, lipids, genetics.	Cohort 495 children and their parents (n=353) in the Columbia University BioMarkers Study 1994-1998 										
129825	Y	lipoprotein	METABOLIC	MET	Myocardial Ischemia	8	8p22	LPL	19841057	19869049		Humphries, S. E.  et al. 2002	12514935				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	non-Hispanic, Hispanic		CDC GDPinfo	4023	Hs.180878			Nutrition, metabolism, and cardiovascular diseases. 2002 Aug;12(4):163-72	Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: theColumbia University BioMarkers Study		609708	26381	2	2002	 These data confirm the role of genetic variants of CETP, LPL and APOC3 in determining the relationship between VLDL, LDL and HDL particles.	Cohort 264/95 Hispanic men (n=40) and women (n=223) and non-Hispanic Caucasian men (n=42) and women (n=53) 										
129826		triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Foucher, C.  et al. 2004	15608561				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Pharmacogenetics. 2004 Dec;14(12):823-9	Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes		609708	26382	2	2004	 These results indicate that elevated baseline TG levels and PPARA gene intron 7 G/G genotype were associated with TG reduction > 30% after fenofibrate treatment in patients with type 2 diabetes.	Cohort subjects with type 2 diabetes treated with micronized fenofibrate 	fenofibrate									
129821		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Papassotiropoulos, A.  et al. 2005	16013913				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		Greece|Switzerland	CDC GDPinfo	4023	Hs.180878			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		609708	26377	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
129822		cholesterol, HDL; triglycerides	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Arai, H.  et al. 2005	16205020				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Japanese		CDC GDPinfo	4023	Hs.180878			Journal of atherosclerosis and thrombosis. 2005 ;12(5):240-50	Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000.		609708	26378	2	2005												
129823		lipoproteins	METABOLIC	MET	Metabolic Syndrome X|Dyslipidemias	8	8p22	LPL	19841057	19869049			16343038				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Physiological research. 2005	Effect of gene polymorphisms on lipoprotein levels in patients with dyslipidemia of metabolic syndrome		609708	26379	2	2005												
129818		longevity	AGING	AGE		8	8p22	LPL	19841057	19869049		Xia, Y.  et al. 2003	12889841				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	French		CDC GDPinfo	4023	Hs.180878			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		609708	26374	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
129819		cholesterol, HDL; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Whiting, B. M.  et al. 2005	16086925				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			American heart journal. 2005 Aug;150(2):243-50	Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.		609708	26375	2	2005	 Five SNPs predicted differences in risk-related lipids but not angiographic CAD. These discrepancies suggest that genetic determinants of CAD are complex and intermediate phenotypes are poor surrogates. These findings have important implications for future directions in genetic research.											
129820		cholesterol, HDL; lipoprotein	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Talmud, P. J.  et al. 2002	12174215				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Annals of human genetics. 2002 Mar;66(Pt 2):111-24	Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men.		609708	26376	2	2002	Thus despite the key roles played by these enzymes in HDL metabolism, variation at these loci, at least as detected by these common genotypes, contributes minimally to the variance in HDL-C and apoAI levels in healthy men, highlighting the polygenic and multifactorial control of HDL-C.	Cohort 2773 healthy middle-aged men participating in the second Northwick Park Heart Study 	alcohol smoking (tobacco)									
129815	Y	lipoproteins	METABOLIC	MET	Hypercholesterolemia	8	8p22	LPL	19841057	19869049		Hubacek, J. A.  et al. 2001	11284423				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Cas Lek Cesk. 2001 Feb;140(3):79-81	[Polymorphisms in genes for cholesterol ester transfer protein, apolipoprotein C-III and lipoprotein lipase in children with high and low cholesterol levels] ]		609708	25200	2	2001	 Common polymorphisms in the CETP and apo CIII genes do not determine the plasma lipid levels in childhood. The carriers of the rare allele in the LPL gene could be genetically predisposed to low plasma lipid levels.	Cohort 168 children selected from opposite ends of the cholesterol distribution curve of 2000 children(82 children in high cholesterol group and 86 children in low cholesterol group) 										
129816		triglycerides	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Reilly, M. P.  et al. 2005	15961789				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Journal of lipid research. 2005 Sep;46(9):1914-22	Higher order lipase gene association with plasma triglycerides.		609708	25201	2	2005												
129817		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	8	8p22	LPL	19841057	19869049		Turner, S. T.  et al. 2003	14553962				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			American journal of hypertension. 2003 Oct;16(10):834-9	Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide		609708	26373	2	2003	 Although we reject the null hypothesis of no genetic effects on BP response to hydrochlorothiazide, the influence of variation at single sites is likely to be small. More extensive characterization of genetic variation is required for pharmacogenetic approaches to become clinically useful in tailoring antihypertensive drug therapy for individual patients.	Cohort 291/294 unrelated non-Hispanic African American adults (n=291, 150 women and 141 men) and unrelated non-Hispanic white adults (n=294, 126 women and 168 men) who were between 30 and 59.9 years of age and who had essential hypertension. 	hydrochlorothiazide									
129812		cholesterol, HDL; cholesterol, LDL; apoA1; apoB	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Descamps, O. S.  et al. 2004	15019539				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Atherosclerosis. 2004 Feb;172(2):287-98	Lipoprotein concentrations in newborns are associated with allelic variations in their mothers.		609708	25197	2	2004	 This is the first evidence that maternal genetic variations influence fetal lipoprotein concentrations, independent of the genetic status of the fetus and of the variations of maternal lipoprotein concentrations generated by these genetic variants. It suggests that proteic components of maternal lipoproteins strongly control the metabolism of maternal lipoproteins carried out at the surface of the placenta to assure the cholesterol delivery to the fetus.	Cohort 525 mothers of newborns and the newborns 										
129813		heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049		Cui, H.  et al. 2005	15696473				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		CDC GDPinfo	4023	Hs.180878			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):22-6	[Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population]		609708	25198	2	2005	 The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.	Cohort 209 normal Han ethnic subjects, aged 59+/-10 years,recruited from 5 medical centers western China 										
129814		nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Chronic Disease	8	8p22	LPL	19841057	19869049		Hadjadj, S.  et al. 2000	11096142				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1971-6	Lack of relationship in long-term type 1 diabetic patients between diabetic nephropathy and polymorphisms in apolipoprotein varepsilon, lipoprotein lipase and cholesteryl ester transfer protein		609708	25199	2	2000	 These results support no or only marginal effects of a genetic basis for lipid disturbances encountered in diabetic nephropathy.	Case:104/126/107 104 (21%) incipient nephropathy, 126 (25%) established nephropathy and 107 (22%) advanced:nephropathy;Control:157 patients (32%) had no nephropathy										
129809		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemias	8	8p22	LPL	19841057	19869049		Kay, A.  et al. 2002	12044583				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	German	Germany	CDC GDPinfo	4023	Hs.180878			Atherosclerosis Supplements. 2002 May;3(1):27-33	Coronary artery disease and dyslipidemia within Europe: genetic variants in lipid transport geneloci in German subjects with premature coronary artery disease.		609708	25194	2	2002	Associations between five polymorphisms representing four lipid transport gene loci and dyslipidemia were demonstrated in this German population. It is possible that predisposition to dyslipidemia in Germany involves a particular selection of polymorphic loci, which are different from those identified in other European countries.	Cohort German population sample 										
129810		heart disease, ischemic	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049		Zateishchikov, D. A.  et al. 2004	15699916				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Kardiologiia. 2004 ;44(12):16-22	[Genetic Predictors of Unfavorable Course in High Risk Patients With Ischemic Heart Disease. Data of Follow-up for Two Years.]		609708	25195	2	2004	Thus genetic factors play a role not only in formation of coronary atherosclerosis but determine the course of ischemic heart disease.	Cohort 154 patients with acute unstable angina 										
129811		hypertriglyceridemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Marcais, C.  et al. 2000	11126401				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Diabetologia. 2000 Nov;43(11):1346-52	Severe hypertriglyceridaemia in Type II diabetes:involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency.		609708	25196	2	2000	Our results strongly support the hypothesis that severe hyperlipaemia in Type II diabetes crucially depends on genetic factors which impair the clearance of triglyceride-rich lipoproteins.	Cohort 116 normolipaemic patients with Type II diabetes mellitus Cohort 28 mildly hypertriglyceridaemic patients with Type II diabetes mellitus Cohort 32 severely hypertriglyceridaemic patients with Type II diabetes mellitus 										
129806		cholesterol; triglycerides; lipoprotein	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Garenc, C.  et al. 2005	16015281				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			European journal of human genetics. 2005 Oct;13(10):1159-65	Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency.		609708	22767	2	2005												
129807		cholesterol, HDL; triglycerides; cholesterol, total	METABOLIC	MET	Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Brisson, D.  et al. 2002	12042669				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Pharmacogenetics. 2002 Jun;12(4):313-20	Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients.		609708	22768	2	2002	This study suggests that frequent genetic variations in genes encoding proteins involved in TG-rich lipoprotein metabolism could modulate the response to fenofibrate treatment, as defined in clinical guidelines.	Cohort 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months 	fenofibrate									
129808	Y	albuminuria; fibrinogen	HEMATOLOGICAL	HEM	Albuminuria|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Javorsky, M.  et al. 2005	15857159				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Physiological research. 2005	Relationship among urinary albumin excretion rate, lipoprotein lipase PvuII polymorphism and plasma fibrinogen in type 2 diabetic patients.		609708	22769	2	2005	Albuminuria is the best predictor of fibrinogen plasma levels in type 2 diabetic patients. Relationship between albuminuria and fibrinogenemia may be modified by the genotype LPL PvuII, which also shows a weak association with plasma fibrinogen level in type 2 diabetes patients.	Cohort 131 type 2 diabetic patients (mean age 62+/-10 years, 33 % male) 										
129803		hyperlipidemia	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Zhao, Y. S.  et al. 2002	16135440				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Yi chuan. 2002 Sep;24(5):519-22	[Variants of exon 4 and its flanking region of LPL Gene in patients with hyperlipidemia]		609708	18072	2	2002												
129804		insulin; lipoproteins	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Ukkola, O.  et al. 2001	11229437				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Metabolism:  clinical and experimental. 2001 Feb;50(2):246-52	Interactions among the glucocorticoid receptor, lipoprotein lipase, and adrenergic receptor genes and plasma insulin and lipid levels in the Quebec Family Study		609708	22765	2	2001	multiple interactions among GRL, LPL, and ADR gene markers contribute to insulin metabolism and perhaps to lipid levels, while no significant effect is found for each gene separately. The LPL locus appears to determine the pattern of interactions with ADR and GRL loci. These results suggest that gene-gene interaction effects could play a role in the etiology of risk factors for common chronic diseases.	Cohort 742 individuals from phase 2 of the Quebec Family Study (QFS) cohort 										
129805		cholesterol, HDL; triglycerides	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Corella, D.  et al. 2002	11893778				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Journal of lipid research. 2002 Mar;43(3):416-27	Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population:interaction with tobacco smoking and the APOE locus.		609708	22766	2	2002	Understanding this gene-gene-environmental interaction may facilitate preventive interventions to reduce coronary artery disease risk.	Cohort 1029 Spanish individuals 	alcohol physical activity smoking (tobacco)									
129800	Y	lipids	METABOLIC	MET	Hyperlipidemias	8	8p22	LPL	19841057	19869049		Morabia, A.  et al. 2003	12687649				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Genetic epidemiology. 2003 May;24(4):309-21	Association between lipoprotein lipase (LPL) gene and blood lipids: a common variant for a commontrait?		609708	18069	2	2003	It appears that the S447X variant of LPL may be another rare example (like APOE4, factor V-Leiden, and PPARgamma Pro12Ala) of a common variant predisposing to a common disorder.	Control:185 nonatherogenic controls;Case:186 cases with atherogenic lipid profiles										
129801	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Yang, T.  et al. 2003	12905705				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		CDC GDPinfo	4023	Hs.180878			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2003 Apr;25(2):134-41	[Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes]		609708	18070	2	2003	 These results indicated that the 4 missense mutations lead to LPL deficiency and subsequent hypertriglyceridemia. The LPL deficiency predispose a progressive diabetic pathway to those affected individuals. LPL gene is one of susceptibility gene for hypertriglyceridemic type 2 diabetes.	Case hypertriglyceridemic subjects and normalipidemic type 2 diabetic subjects;Control healthy controls										
129802		lipids; atherosclerosis, generalized	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Li, J.  et al. 2003	14580156				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Japanese		CDC GDPinfo	4023	Hs.180878			Clinical chemistry and laboratory medicine. 2003 Oct;41(10):1304-7	A common truncated variant of lipoprotein lipase in the Japanese population is characterized by pattern B phenotype.		609708	18071	2	2003	In conclusion, heterozygous and homozygous status with respect to the LPL S447X mutation appears to have different meanings with respect to biochemical and clinical phenotypes of atherosclerosis.	Case:106 dyslipidemic individuals;Control:106:controls										
129797	Y	lipid metabolism disorders	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Liu, A.  et al. 2005	15793775	Ser447Ter			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):151-7	[The association of S447X and Hind III polymorphism in the lipoprotein lipase gene with dyslipidemia of the metabolic syndrome in patients with essential hypertension]		609708	12221	2	2005	 The LPL H-X haplotype was one of the protective factors of dyslipidemia of metabolic syndrome in hypertensive patients. It is significantly associated with low triglyceride, log triglyceride-to-HDL-cholesterol ratio and high HDL-cholesterol levels. S447X mutation does not explain all the effect associated with the Hind III polymorphism, although the effect on serum lipids associated with the H-X haplotype appeared to be mainly mediated by the S447X mutation. It is possible that some functional mutations in the LPL gene besides the S447X mutation are in linkage disequilibrium with the Hind III polymorphism.	Cohort 983 hypertensive patients randomly selected not treated with anti-hypertensive medications for at least in 2 weeks immediately before blood collection China 										
129798		triglycerides; lipoprotein	METABOLIC	MET	Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Liu, J.  et al. 2005	16029634				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Zhonghua yi xue za zhi. 2005 May;85(19):1339-43	[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride]		609708	12222	2	2005	 LPL-HindIII and PvuII polymorphisms are determinants of plasma LPL concentration. This genetic effect can be modified by some environmental factors, such as smoking and obesity.		alcohol body mass smoking (tobacco)									
129799		cholesterol, HDL; triglycerides; blood pressure, arterial	METABOLIC	MET		8	8p22	LPL	19841057	19869049			16378107	Ser447Ter			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Beijing da xue xue bao Yi xue ban. 2005 Dec;37(6):585-90	[Association and linkage analysis between the S447X polymorphism of LPL gene and serum lipids, blood pressures in twins.]		609708	12223	2	2005	 This study showed significant associations between the S447X polymorphism of LPL gene and the improved serum lipids, decreased blood pressures in the female twins. But no associations were observed in male twins, and no linkage evidences were found between the locus site of S447X polymorphism and the trait loci of serum lipids, blood pressures. So the associations maybe caused by the other functional SNPs within or near LPL gene, which might be in significant linkage disequilibrium with 447X mutation.											
129794	Y	hyperlipidemia	METABOLIC	MET	Hyperlipoproteinemia Type II	8	8p22	LPL	19841057	19869049		Zhang, R.  et al. 2003	14669227				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		CDC GDPinfo	4023	Hs.180878			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):539-41	[Study on lipoprotein lipase gene Hind III polymorphism in Chinese type IIb hyperlipoproteinemia]		609708	12217	2	2003	 The Hind III RFLP at intron 8 of LPL gene is associated with type II b hyperlipoproteinemia to some extent in Chinese population.	Case:103 Chinese Han type IIb hyperlipoproteinemia patients Chengdu area, China;Control:129 healthy subjects										
129795	Y	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	LPL	19841057	19869049		Narita, S.  et al. 2004	15386377				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Japanese	Japan	CDC GDPinfo	4023	Hs.180878			International journal of cancer. Journal international du cancer. 2004 Dec;112(5):872-6	Association of lipoprotein lipase gene polymorphism with risk of prostate cancer in a Japanese population.		609708	12218	2	2004	Our results suggest that the LPL Ser447stop polymorphism is a common genetic modifier for the development of prostate cancer, particularly that of high-grade and/or high-stage, in a Japanese population.	Control:230 male controls;Case:273/205 Japanese prostate cancer patients (n=273) and benign prostatic hyperplasia (n=205) patients										
129796		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p22	LPL	19841057	19869049		Tu, X.  et al. 2005	15749185			intron	Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese	China	CDC GDPinfo	4023	Hs.180878			International journal of cardiology. 2005 Mar;99(2):263-7	A study of lipoprotein lipase gene intron 8 polymorphisms in Chinese Han race essential hypertension patients.		609708	12220	2	2005	 The results suggest that lipoprotein lipase may be an important genetic factor associated with the Chinese Han race Essential Hypertension patients. The polymorphisms of intron 8 in lipoprotein lipase influence the blood-lipid metabolism, induce blood vessel rebuilding and play an important role in the invasion and development of Essential Hypertension.	Case:116 patinets with essential hypertension;Control:116 normal people										
129791	Y	cholesterol, HDL; triglycerides; coronary artery disease; cerebral infarction	CARDIOVASCULAR	CARD	Cerebral Infarction	8	8p22	LPL	19841057	19869049		Myllykangas, L.  et al. 2001	11680797	Ser447Ter			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Annals of medicine. 2001 Oct;33(7):486-92	Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: apopulation-based neuropathological study.		609708	12214	2	2001	 The Ter447 variant of LPL is associated with decreased risk of brain infarction and coronary artery disease in our very elderly population.	Case:119 neuropathologically verified brain infarction:patients;Control:133 controls derived from a prospective, population-based study (the Vantaa 85+ study)										
129792	Y	ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia|Angina, Unstable|Myocardial Infarction|Diabetes Mellitus, Type 1	8	8p22	LPL	19841057	19869049		Malygina, N. A.  et al. 2002	11899831				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Ter Arkh. 2002 ;74(2):64-6	[HindIII DNA-polymorphism of lipoprotein lipase gene in elderly patients with ischemic heart disease]		609708	12215	2	2002	 Genotype H+H+ of LPL gene is one of the markers of predisposition to MI, while allele H- is one of the resistance marks.	Cohort 103 patients with stable effort angina 										
129793		hyperlipidemia	METABOLIC	MET	Hyperlipidemias|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Zhu, W.  et al. 2003	12793009				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Wei sheng yan jiu. 2003 Mar;32(2):147-9, 158	[Relations of lipoprotein lipase gene polymorphism at Pvu II locus and dietary intervention predisposition in hyperlipidemia population]		609708	12216	2	2003	The conclusions could be primarily drawn that the variants of LPL-Pvu II locus were important determinants of variation in serum cholesterol response to dietary change in hyperlipidemia population.	Control:188 hyperlipidemia patients in a control group;Case:248 hyperlipidemia patients separated into an intervention group western urban districts in Beijing	diet									
129788	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	8	8p22	LPL	19841057	19869049		Baum L et al. 2000	10936883			coding sequence	Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	US, Canada	Canada|United States	H. Wiebusch	4023	Hs.180878			Microscopy research and technique. 2000 Aug;50(4):291-6	Roles for lipoprotein lipase in Alzheimer's disease: an association study		609708	4333	1	2000												
129789		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Shagisultanova, E. I.  et al. 2001	11534394				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Russian	Russia	CDC GDPinfo	4023	Hs.180878			Molekuliarnaia genetika, mikrobiologiia i virusologiia. 2001 ;(3):18-22	[HindIII polymorphism of lipoprotein lipase gene and risk of myocardial infarction]		609708	12212	2	2001	These findings indicate that HindIII polymorphism may be a genetic risk factor for MI before 55 years of age in the Tartars and for repeated MI in Russians. This association prompts genotyping of HindIII polymorphism for predicting MI recurrence in Russian survivors after MI.	Case:106 myocardial infarction survivors (males aged under 55 years (98 Russians and 68 Tartars);Control:133 controls (53 Russians and 80 Tartars)										
129790	Y	myocardial infarction; stable angina of effort	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	8	8p22	LPL	19841057	19869049		Malygina, N. A.  et al. 2001	11605530				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDPinfo	4023	Hs.180878			Molekuliarnaia biologiia. 2001 Sep-Oct;35(5):787-91	[Connection of HindIII-polymorphism in the lipoprotein lipase gene with myocardial infarct and life span in elderly ischemic heart disease patients]		609708	12213	2	2001	The polymorphism proved to be associated with MI and with the life span, genotype H+/H+ being predisposing to MI and allele H- being protective. The allele and genotype frequencies of long-lived people differed significantly from the Hardy-Weinberg proportions and from those of SAE patients aged up to 90. An excess of heterozygotes in this group suggests a selective pressure which eliminates homozygotes. Possibly, heterozygotes H+/H- have an adaptive advantage, which provides for their longevity.	Cohort patients with myocardial infarction (MI) and stable angina of effort (SAE) 										
129785		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Mattu RK 2002	12107736				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		England	Y Wang	4023	Hs.180878	Complications		Diabetologia. 2002 Jun;45(6):905-13	Lipoprotein lipase gene variants relate to presence and degree of microalbuminuria in Type II diabetes.		609708	4330	1	2002												
129786	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Yang T 2003	12905705				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		Y Wang	4023	Hs.180878			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2003 Apr;25(2):134-41	Mutation-function analysis in the lipoprotein lipase gene of Chinese patients with hypertriglyceridemic type 2 diabetes		609708	4331	1	2003	 These results indicated that the 4 missense mutations lead to LPL deficiency and subsequent hypertriglyceridemia. The LPL deficiency predispose a progressive diabetic pathway to those affected individuals. LPL gene is one of susceptibility gene for hypertriglyceridemic type 2 diabetes.	Case hypertriglyceridemic subjects and normalipidemic type 2 diabetic subjects;Control healthy controls										
129787		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hyperlipidemias	8	8p22	LPL	19841057	19869049		Brownrigg LM 2004	10952471	9N allele			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			Y Wang	4023	Hs.180878			Diabetologia. 2000 Jul;43(7):953-4	Increased frequency of the lipoprotein lipase 9N allele in adults with Type I (insulin-dependent) diabetes mellitus.		609708	4332	1	2004												
129780	Y	premature coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	8	8p22	LPL	19841057	19869049		Humphries SE et al. 1998	9555857				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Arteriosclerosis, thrombosis, and vascular biology. 1998 Apr;18(4):526-34	Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS).		609708	4325	1	1998												
129781		normal variation	NORMALVARIATION	NV		8	8p22	LPL	19841057	19869049		Xin X 2003	14564687	Serine447Stop variant			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878	young adults		Metabolism:  clinical and experimental. 2003 Oct;52(10):1337-42	Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study.		609708	4326	1	2003												
129782		familial combined hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	8	8p22	LPL	19841057	19869049		Reiber I 2003	12915220				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			The Journal of nutritional biochemistry. 2003 Jul;14(7):394-400	Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms.		609708	4327	1	2003												
129776	Y	Brain Infarction	CARDIOVASCULAR	CARD	Cerebral Infarction	8	8p22	LPL	19841057	19869049		Myllykangas L 2001	11680797	Ser447Ter and Asn291Ser			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			TJB	4023	Hs.180878			Annals of medicine. 2001 Oct;33(7):486-92	Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: apopulation-based neuropathological study.		609708	4321	1	2001	 The Ter447 variant of LPL is associated with decreased risk of brain infarction and coronary artery disease in our very elderly population.	Case:119 neuropathologically verified brain infarction:patients;Control:133 controls derived from a prospective, population-based study (the Vantaa 85+ study)										
129777	Y	Hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Pasalic D 2001	11593500	Pvu II polymorphic site within the intron between exons 6 and 7			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Zagreb. Croatia		TJB	4023	Hs.180878			Croatian medical journal. 2001 Oct;42(5):517-22			609708	4322	1	2001	 There is an association between genetic variation at the locus for lipoprotein lipase and high serum triglyceride levels. This might prove useful in the detection of individuals susceptible to the development of hypertriglyceridemia, as well as a marker in the analysis of this genetic defect in patient families.	Case:116; Control:50										
129778	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemias	8	8p22	LPL	19841057	19869049		Hoffer MJ et al. 1998	9678774				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Atherosclerosis. 1998 May;138(1):91-9	Gender-related association between the -93T-->G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia.		609708	4323	1	1998												
129772	Y	lower plasma triglyceride levels and increased promoter activity	OTHER	OTH		8	8p22	LPL	19841057	19869049		Hall S et al. 1997	9351361			promoter	Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Arteriosclerosis, thrombosis, and vascular biology. 1997 Oct;17(10):1969-76	A common mutation in the lipoprotein lipase gene promoter -93T/G is associated with lower plasma triglyceride levels and increased promoter activity in vitro.		609708	4317	1	1997												
129774	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	8	8p22	LPL	19841057	19869049		Kastelein JJ et al. 1998	9550358			promoter	Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Clinical genetics. 1998 Jan;53(1):27-33	The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group.		609708	4319	1	1998												
129775	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Anderson JL 1999	10091829	Hind III (+) and Pvu II(-) or (+)			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			TJB	4023	Hs.180878			Journal of the American College of Cardiology. 1999 Mar;33(4):1013-20			609708	4320	1	1999	 The common LPL polymorphic allele, HindIII (+), is moderately associated with CAD, and the PvuII (-) allele is modestly associated (trend). Genetic variants of LPL deserve further evaluation as risk factors for CAD.	Case:725; Control:168										
129769	Y	adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations	METABOLIC	MET	Obesity	8	8p22	LPL	19841057	19869049		Nicklas BJ et al. 2000	10830909				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Human genetics. 2000 Apr;106(4):420-4	Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in overweight postmenopausal women.		609708	4314	1	2000												
129770	Y	lipid levels	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	8	8p22	LPL	19841057	19869049		Ma YQ et al. 2003	12647273				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		China	KGB	4023	Hs.180878			Metabolism:  clinical and experimental. 2003 Mar;52(3):338-43	The lipoprotein lipase gene HindIII polymorphism is associated with lipid levels in early-onset type 2 diabetic patients.		609708	4315	1	2003	We conclude that  the H+ allele of the LPL gene HindIII polymorphism is associated with higher plasma triglyceride and lower HDL-cholesterol levels in Chinese patients with early-onset diabetes.											
129771	Y	smoking	OTHER	OTH		8	8p22	LPL	19841057	19869049		Peacock RE et al. 1997	9181356				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878	smoking		Genetic epidemiology. 1997 ;14(3):265-82	Variation at the lipoprotein lipase and apolipoprotein AI-CIII gene loci are associated with fasting lipid and lipoprotein traits in a population sample from Iceland: interaction between genotype gender and smoking status.		609708	4316	1	1997												
129764	Y	pre-eclampsia	REPRODUCTION	REP	HELLP Syndrome|Pre-Eclampsia|Hyperlipidemias	8	8p22	LPL	19841057	19869049		Hubel CA et al. 1999	10636447				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Clinical genetics. 1999 Oct;56(4):289-96	Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene.		609708	4309	1	1999	We conclude that  carriers of N291S or combined D9N/ - 93T --> G mutations in the LPL gene are at substantially increased risk of pre-eclampsia.											
129765	Y	decreased blood pressure and plasma triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Hypercholesterolemia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Clee SM et al. 2001	11683775				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Clinical genetics. 2001 Oct;60(4):293-300	The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides and reduced risk of coronary artery disease.		609708	4310	1	2001												
129766	Y	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia	8	8p22	LPL	19841057	19869049		Wittrup HH et al. 1999	10364086				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Arteriosclerosis, thrombosis, and vascular biology. 1999 Jun;19(6):1535-40	Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study.		609708	4311	1	1999												
129761	Y	cardiovascular	CARDIOVASCULAR	CARD	Heart Diseases	8	8p22	LPL	19841057	19869049		Hall S et al. 2000	10723106				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Genetic epidemiology. 2000 Mar;18(3):203-16	Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study.		609708	4306	1	2000												
129762		quantitative variation in plasma high-density lipoproteins and triacylglycerides	OTHER	OTH	Hyperlipidemias	8	8p22	LPL	19841057	19869049		Mitchell RJ et al. 1994	8026810				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Human biology; an international record of research. 1994 Jun;66(3):383-97	DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides.		609708	4307	1	1994												
129763	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	8	8p22	LPL	19841057	19869049	n	Abu-Amero KK et al. 2003	12708905				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Saudi Arabian	Saudi Arabia	KGB	4023	Hs.180878			Archives of pathology & laboratory medicine. 2003 May;127(5):597-600	Lack of association of lipoprotein lipase gene polymorphisms with coronary artery disease in the Saudi Arab population.		609708	4308	1	2003	 There was no difference in the distribution of both LPL polymorphisms between the healthy group and the CAD group. Therefore, these 2 LPL polymorphisms cannot be considered as independent risk factors or as predictors for CAD in this population.											
129756	Y	insulin-resistance syndrome	METABOLIC	MET	Insulin Resistance|Syndrome	8	8p22	LPL	19841057	19869049		Ahn YI et al. 1993	7905375				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		Colorado	KGB	4023	Hs.180878			Diabetes care. 1993 Nov;16(11):1502-6	Association of lipoprotein lipase gene variation with the physiological components of the insulin-resistance syndrome in the population of the San Luis Valley Colorado.		609708	4301	1	1993												
129757		macroangiopathy	OTHER	OTH	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Ukkola O et al. 1995	7669092				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Atherosclerosis. 1995 May;115(1):99-105	DNA polymorphisms at the lipoprotein lipase gene are associated with macroangiopathy in type 2 (non-insulin-dependent) diabetes mellitus.		609708	4302	1	1995												
129759	Y	elevated HDL cholesterol levels	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Kuivenhoven JA et al. 1997	9102182				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Arteriosclerosis, thrombosis, and vascular biology. 1997 Mar;17(3):595-9	Ser447stop mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males.		609708	4304	1	1997												
129753		postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations	OTHER	OTH	Obesity	8	8p22	LPL	19841057	19869049		Garenc C et al. 2000	10778864				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Metabolism:  clinical and experimental. 2000 Apr;49(4):432-9	Linkage and association studies of the lipoprotein lipase gene with postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations: the HERITAGE Family Study.		609708	4298	1	2000												
129754	Y	fasting insulin levels	OTHER	OTH		8	8p22	LPL	19841057	19869049		Cole SA et al. 1993	8102341				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Genetic epidemiology. 1993 ;10(3):177-88	Association of a PvuII RFLP at the lipoprotein lipase locus with fasting insulin levels in Hispanic men.		609708	4299	1	1993												
129755		high density lipoprotein levels.	OTHER	OTH		8	8p22	LPL	19841057	19869049		Heizmann C et al. 1991	1673959				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Human genetics. 1991 Apr;86(6):578-84	DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.		609708	4300	1	1991												
129748		Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Shagisultanova EI 2001	11534394	Hind III polymorphism			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Russians and Tartars	Russia	TJB	4023	Hs.180878			Molekuliarnaia genetika, mikrobiologiia i virusologiia. 2001 ;(3):18-22	[HindIII polymorphism of lipoprotein lipase gene and risk of myocardial infarction]		609708	4293	1	2001	These findings indicate that HindIII polymorphism may be a genetic risk factor for MI before 55 years of age in the Tartars and for repeated MI in Russians. This association prompts genotyping of HindIII polymorphism for predicting MI recurrence in Russian survivors after MI.	Case:106 myocardial infarction survivors (males aged under 55 years (98 Russians and 68 Tartars);Control:133 controls (53 Russians and 80 Tartars)										
129749		HDL Cholesterol	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Knoblauch H 2002	12023990				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	German		TJB	4023	Hs.180878			Human molecular genetics. 2002 Jun;11(12):1477-85			609708	4294	1	2002												
129750	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases	8	8p22	LPL	19841057	19869049	n	Myllykangas L 2000	11018310				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Finnish	Finland	TJB	4023	Hs.180878			Neuroscience letters. 2000 Oct;292(3):195-8			609708	4295	1	2000		Case:113; Control:203										
129744	Y	Diabetes Mellitus. Obesity. and Lipaemia	METABOLIC	MET	Diabetes Mellitus|Hypertriglyceridemia|Obesity	8	8p22	LPL	19841057	19869049		Zhang Q 1997	9404225	(a) G579-->A. V108V; (b) G818-->A. G188E; (c) C829-->T. R192; (d) A1127-->G. N291S; (e) C1308-->G. F351L; (f)C1338-->A; T361T; and (g) C1595-->G. S447			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			TJB	4023	Hs.180878			Clin Sci (Lond).. 1997 Oct;93(4):335-41			609708	4289	1	1997	We conclude that  genetic variants at the lipoprotein lipase locus occur commonly in subjects with this syndrome (four out of 18 subjects with probably functional mutants) and may affect the individual's response to obesity and diabetes mellitus for the development of lipaemia.											
129745	N	Preeclampsia	OTHER	OTH	HELLP Syndrome|Pre-Eclampsia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049	n	Kim YJ 2001	11711487	Asp9Asn substitution in exon 2. -93T/G. and Asn291Ser substitution in exon 6			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian		TJB	4023	Hs.180878			Hypertension. 2001 Nov;38(5):992-6			609708	4290	1	2001	In a small subgroup of patients, the Asn291Ser mutation was associated with an increased risk for nulliparous HELLP syndrome.											
129746	Y	High Triglyceride/ Low HDL Cholesterol Levels	METABOLIC	MET	Arteriosclerosis|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Razzaghi H 2000	11071388	Hind III polymorphism in intron 8			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Hispanics and Non-Hispanic Whites		TJB	4023	Hs.180878			Human genetics. 2000 Sep;107(3):257-67			609708	4291	1	2000												
129741	N	Alzheimer`s Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	8	8p22	LPL	19841057	19869049	n	Fidani L 2002	11897170	S447X or 447X			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			TJB	4023	Hs.180878			Neuroscience letters. 2002 Apr;322(3):192-4			609708	4286	1	2002	We conclude that  LPL cannot be a major factor in pathogenesis of AD.											
129742	N	Familial Combined Hyperlipoproteinemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	8	8p22	LPL	19841057	19869049	n	Marcil M 1996	9026529	LPLGly188Glu. LPLPro207Leu. and LPLAsp250Asn			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	French Canadian	Quebec|France	KGB	4023	Hs.180878			Journal of lipid research. 1996 Feb;37(2):309-19			609708	4287	1	1996	We conclude that  in our highly selected group of FCH subjects of French Canadian descent, the XmnI and SstI RFLPs of the apoA-I gene and common functional mutations of the LPL gene resulting in complete LPL deficiency are not associated with FCH.											
129743	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	8	8p22	LPL	19841057	19869049	n	Holmer SR 2000	10974229	Hind III			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Augsburg. Germany		TJB	4023	Hs.180878			Cardiovascular research. 2000 Sep;47(4):806-12			609708	4288	1	2000	 This large study shows that the H2H2 genotype of the lipoprotein lipase gene polymorphism is associated with unfavorable lipid levels. Estrogen status may modulate this association in women. The effects of the genotype on lipid levels were apparently not strong enough to reveal a significant association with MI.											
129737		Obesity	METABOLIC	MET	Hypertriglyceridemia|Obesity	8	8p22	LPL	19841057	19869049		Ko YL 1997	9272150	Hind III polymorphism			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		TJB	4023	Hs.180878			Human genetics. 1997 Sep;100(4-Mar):327-33			609708	4282	1	1997		Case:339; Control:257										
129738	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	8	8p22	LPL	19841057	19869049	p<0.05	Stepanov VA 1998	9489234	PvuII polymorphism			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Russians	Russia	TJB	4023	Hs.180878			Human biology; an international record of research. 1998 Feb;70(1):47-57			609708	4283	1	1998		Case:94; Control:122										
129739	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease	8	8p22	LPL	19841057	19869049	p	Ye P 1996	9387400	Pvu II and Hind III			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Han Chinese of Beijing area		TJB	4023	Hs.180878			Chinese medical sciences journal. 1996 Sep;11(3):157-61			609708	4284	1	1996		Case:100; Control:100										
129733		heart disease, ischemic; lipoprotein	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	6	6q26-q27	LPA	160872504	161007397		Dincic, D.  et al. 2005	16053196				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1		Yugoslavia	CDC GDPinfo	4018	Hs.520120			Wiener klinische Wochenschrift. 2005 Jun;117(12-Nov):406-11	Apolipoprotein(a) gene polymorphisms (TTTTA)n and G/A-914 affect Lp(a) levels in ischemic heart disease patients from Serbia.		152200	22763	2	2005	 These results indicate that (TTTTA)n and G/A-914 polymorphisms affect Lp(a) levels in ischemic heart disease as a consequence of the linkage disequlibrium.											
129734	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q26-q27	LPA	160872504	161007397		Ranjith, N.  et al. 2004	15258620				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	South African	South Africa|India	CDC GDPinfo	4018	Hs.520120			Cardiovascular journal of South Africa. 2004 May-Jun;15(3):111-7	Lp(a) and apoE polymorphisms in young South African Indians with myocardial infarction.		152200	22764	2	2004	In conclusion, the apoE3/E4 genotype is strongly associated with the incidence of myocardial infarction in young South African Indians. This genotype also adversely affects LDL and HDL cholesterol levels, both of which contribute to premature atherosclerosis. In contrast, the Lp(a) pentanucleotide repeat polymorphism does not appear to have any aetiological role in MI in this population.	Case:195 young South African Indian patients (;Control:300/107 healthy age-matched control subjects drawn from the same community and 107 unaffected siblings (18-45:years)										
129735		cholesterol; coronary heart disease; lipoproteins	METABOLIC	MET		6	6q26-q27	LPA	160872504	161007397		Harich, N.  et al. 2002	12220441				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	Moroccan Berbers		CDC GDPinfo	4018	Hs.520120			Clinical genetics. 2002 Sep;62(3):240-4	Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPAgene and APOE-C1-C2 gene cluster.		152200	26372	2	2002	The high values of APOE*E4 and LPA PNR*7 together with the intermediate linkage disequilibrium values between APOE and APOC1 alleles in comparison with Europeans and Africans suggest a certain degree of Sub-Saharan influence in the current Moroccan population.	Cohort 140 Berber individuals Morroccan Moyen Atlas region 										
129730		aneurysm, intracranial	CARDIOVASCULAR	CARD	Intracranial Aneurysm	6	6q26-q27	LPA	160872504	161007397		Roberts, G. A.  et al. 2001	11440434				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDPinfo	4018	Hs.520120			Neurosurgery. 2001 Jul;49(1):133-40; discussion 141-2	Genetic evaluation of lipoprotein(a) in intracranial aneurysm disease.		152200	18063	2	2001	 The previously described elevation in Lp(a) levels among patients with sporadic IAs might be explained by an acute-phase response. Crude Lp(a) measurements might provide a useful predictive test for familial IA disease, but with the disadvantage of low specificity. The possibility of linkage of familial IA disease to a particular apolipoprotein(a) isoform size range has not been eliminated.	Case:50 patients with sporadic intracranial aneurysm (IA):disease:Cohort:50 members of three IA families;Control:50 volunteers representing a cross-section of Irish Caucasian hospital workers										
129731		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q26-q27	LPA	160872504	161007397		Chimienti, G.  et al. 2002	12127051				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1		Italy	CDC GDPinfo	4018	Hs.520120			Experimental and molecular pathology. 2002 Aug;73(1):28-34	APO(a) variants and lipoprotein(a) in men with or without myocardial infarction.		152200	18064	2	2002	Allele and genotype frequency distributions differed between Cases and Controls. Lp(a) concentrations differed according to PNR genotypes	Case:127 Italian cases of myocardial infarction;Control:218 Italian controls										
129732	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q26-q27	LPA	160872504	161007397		Compton, D.  et al. 2002	12359323				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDPinfo	4018	Hs.520120			Neuroscience letters. 2002 Oct;331(1):60-2	Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers.		152200	18066	2	2002	We suggest that this polymorphism and others at the Apo(a) locus be further studied in relation to Alzheimer's disease.	Case Alzheimer's disease patients;Control:controls										
129727		lipoproteins	METABOLIC	MET		6	6q26-q27	LPA	160872504	161007397		DePrince, K.  et al. 2001	11332648				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDPinfo	4018	Hs.520120			Human biology; an international record of research. 2001 Feb;73(1):91-104	Genetic effect of two APOA repeat polymorphisms (kringle 4 and pentanucleotide repeats) on plasma Lp(a) levels in American Samoans.		152200	12206	2	2001	Our data show that common polymorphisms in the APOA gene are major determinants of plasma Lp(a) variation in American Samoans.	Cohort 309 individuals in an American Samoan population 										
129728	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6q26-q27	LPA	160872504	161007397		Simo, J. M.  et al. 2001	11485023				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDPinfo	4018	Hs.520120			Journal of molecular medicine (Berlin, Germany). 2001 Jun;79(6-May):294-9	Polymorphisms in human apolipoprotein(a) kringle IV-10 and coronary artery disease: relationship toallele size, plasma lipoprotein(a) concentration, and lysine binding site activity		152200	12207	2	2001	The W81R was not found in our sample, but the M75T mutation was present in 43% of patients with coronary artery disease and 23% of age-matched controls. The genotype TT conferred a significant risk for myocardial infarction (odds ratio 2.53). This association was not due to linkage disequilibrium with kringle IV repeats. The M75T polymorphism was not associated with the LBS function of apo(a), but it influenced plasma Lp(a) concentration.	Case coronary artery disease patients;Control age-matched controls										
129729	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q26-q27	LPA	160872504	161007397		Holmer, S. R.  et al. 2003	12578871				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1		Germany	CDC GDPinfo	4018	Hs.520120			Circulation. 2003 Feb;107(5):696-701	Association of polymorphisms of the apolipoprotein(a) gene with lipoprotein(a) levels and myocardial infarction		152200	12208	2	2003	 The K4 and PN repeat polymorphisms largely explain the high variability of serum Lp(a) levels. A haplotype with <or=8 PN and <or=22 K4 repeats is characterized by high concentrations of small Lp(a) particles. Our observation that this haplotype was associated with MI independently of Lp(a) serum levels may suggest that Lp(a) particle size in addition to its concentration may modulate MI risk in women.	Control:1548 population-based controls;Case:834 registry-based myocardial infarction patients										
129724	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	5	5q23.2	LOX	121429917	121441853		Yoneyama, T.  et al. 2003	12750963				Lysyl oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002317.3			CDC GDPinfo	4015	Hs.102267			Journal of human genetics. 2003 ;48(6):309-14	Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.		153455	25193	2	2003	No associations of FBN2 and LOX with IA were detected in the present study.	Case:172 intracranial aneurysm patients;Control:192:controls										
129725		oral submucous fibrosis	OTHER	OTH	Mouth Neoplasms|Precancerous Conditions|Oral Submucous Fibrosis|Genetic Predisposition to Disease	5	5q23.2	LOX	121429917	121441853		Chiu, C. J.  et al. 2002	12101112				Lysyl oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002317.3		Taiwan	CDC GDPinfo	4015	Hs.102267			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):646-53	Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.		153455	26371	2	2002	These results imply that susceptibility to OSF could involve multigenic mechanisms modified by the betel quid-exposure dose	Case:166 patients with OSF from a medical center;Control:284 betel quid chewers who were free of OSF and oral cancer , from the same hospital and five townships	betel quid									
129726		lipoproteins	METABOLIC	MET	Cardiovascular Diseases	6	6q26-q27	LPA	160872504	161007397		Chiu, L.  et al. 2000	11126727				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	non-Hispanic, Hispanics	Colorado	CDC GDPinfo	4018	Hs.520120			Human biology; an international record of research. 2000 Oct;72(5):821-35	Apolipoprotein A polymorphisms and plasma lipoprotein(a) concentrations in non-Hispanic Whites and Hispanics.		152200	12205	2	2000	This study confirms that the kringle 4 polymorphism in the APOA gene is a significant determinant of Lp(a) levels in both study groups. A pentanucleotide repeat polymorphism in the 5' promoter region of the APOA gene did not show significant impact on plasma Lp(a) levels in either NHWs or Hispanics.	Cohort 214 Hispanics San Luis Valley, Colorado Cohort 390 Non-Hispanic whites San Luis Valley, Colorado 										
129720		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease|Aging, Premature	1	1q21.2-q21.3	LMNA	154318992	154376495		Low, A. F.  et al. 2005	16262891				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			CDC GDPinfo	4000	Hs.491359			BMC medical genetics [electronic resource]. 2005 Oct;6:38	Aging syndrome genes and premature coronary artery disease.		150330	22762	2	2005	 Our data do not support the hypothesis that premature CAD is associated with common variants in the progeroid syndrome genes LMNA and KLOTHO.											
129721	N	diabetes, NOS	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q22-q23	LMX1A	163437728	163592099		Thameem, F.  et al. 2002	12062816				LIM homeobox transcription factor 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_177398.2	Pima Indian		CDC GDPinfo	4009	Hs.160098			Gene. 2002 May;290(2-Jan):217-25	Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians.		600298	18060	2	2002	We did not find evidence for association of any LMX1A SNPs with T2DM and conclude that LMX1A does not contribute significantly to T2DM etiology in Pima Indians.	Case:150 diabetic Pima Indians;Control:150 unaffected Pimas										
129723	N	amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	5	5q23.2	LOX	121429917	121441853		Chioza, B. A.  et al. 2001	11675877				Lysyl oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002317.3			CDC GDPinfo	4015	Hs.102267			Amyotrophic lateral sclerosis and other motor neuron disorders. 2001 Jun;2(2):93-7	Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis.		153455	18061	2	2001	 Mutations in the LOX gene are unlikely to be directly causative of ALS.	Control:138 controls not otherwise specified in abstract;Case:192 cohort of sporadic and familial (n=31) amyotrophic lateral sclerosis patients										
129716	N	insulin resistance; dyslipidemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hyperlipidemias	1	1q21.2-q21.3	LMNA	154318992	154376495		Murase, Y.  et al. 2002	12145775				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Japanese	Japan	CDC GDPinfo	4000	Hs.491359			Metabolism:  clinical and experimental. 2002 Aug;51(8):1017-21	An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese.		150330	18056	2	2002	These results suggest the LMNA 1908C/T single nucleotide polymorphism (SNP) is not associated with the prevalence of type 2 diabetes, although it may be a factor predisposing to insulin resistance and dyslipidemia in some Japanese.	Case:164 Japanese type 2 diabetic male subjects;Control:171 Japanese nondiabetic male subjects										
129718	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Ventricular Dysfunction, Left|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Hermida-Prieto, M.  et al. 2004	15219508				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			CDC GDPinfo	4000	Hs.491359			The American journal of cardiology. 2004 Jul;94(1):50-4	Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.		150330	18058	2	2004	Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.	Cohort 67 consecutive patients with dilated cardiomyopathy 										
129719		cardiomyopathy; heart failure; sudden death	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Heart Failure|Arrhythmias, Cardiac|Death, Sudden|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		van Berlo, J. H.  et al. 2005	15551023				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			CDC GDPinfo	4000	Hs.491359			Journal of molecular medicine (Berlin, Germany). 2005 Jan;83(1):79-83	Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/Cmutations portend a high risk of sudden death?		150330	18059	2	2005												
129713	Y	insulin; obesity; leptin	METABOLIC	MET	Hyperinsulinism|Obesity	1	1q21.2-q21.3	LMNA	154318992	154376495		Yiannakouris, N.  et al. 2004	15636422				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Greek	Greece	CDC GDPinfo	4000	Hs.491359			Journal of endocrinological investigation. 2004 Sep;27(8):714-20	The Val81 missense mutation of the melanocortin 3 receptor gene, but not the 1908c/T nucleotide polymorphism in lamin A/C gene, is associated with hyperleptinemia and hyperinsulinemia in obese Greek caucasians.		150330	12203	2	2004	Our results suggest that the LMNA 1908C-->T substitution and the Val81Ile mutation of the MC3R gene are unlikely to be major predictors of body composition in Greek Caucasians, but the latter genetic variation may predispose obese subjects to develop insulin and leptin resistance. Future studies are needed to confirm these data and assess whether individuals carrying this mutation are more resistant to weight-reducing and insulin-sensitizing treatments.	Cohort 112/116 young nonobese subjects (n=112, and a group of adult women with a body mass index (BMI) ranging from 23.2 to 47.7 kg/m2 (n=116) Greece 										
129714	Y	nephropathy in other diseases; cerebrovascular disease	RENAL	REN	Cerebrovascular Disorders|Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Liang, H.  et al. 2005	16117820	1908C/T			Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Japanese		CDC GDPinfo	4000	Hs.491359			Clinical endocrinology. 2005 Sep;63(3):317-22	Association of LMNA 1908C/T polymorphism with cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes.		150330	12204	2	2005	 The LMNA 1908C/T polymorphism plays an important role in the development of cerebral vascular disease and diabetic nephropathy in Japanese men with type 2 diabetes.											
129715	N	body mass; cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; insulin sensitivity; insulin secretion;	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	1	1q21.2-q21.3	LMNA	154318992	154376495		Wolford, J. K.  et al. 2001	11440372				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Pima Indian		CDC GDPinfo	4000	Hs.491359			Diabetologia. 2001 Jun;44(6):779-82	Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians.		150330	18055	2	2001	We conclude that  the LMNA 3408C/T variant probably does not play a role in susceptibility to diabetes or obesity in Pima Indians.	Cohort 1,338 Pima Indians Cohort 20 diabetic Pima Indians and non-diabetic Pima Indians 										
129710		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease|Disease Progression	1	1q21.2-q21.3	LMNA	154318992	154376495		Tazir M 2004	14607793	R298C			Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			KGB	4000	Hs.491359			Brain. 2004 Jan;127(Pt 1):154-63	Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.		150330	4279	1	2004												
129711	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	1	1q21.2-q21.3	LMNA	154318992	154376495		Wolford JK 2001	11440372				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Pima Indians		Y Wang	4000	Hs.491359			Diabetologia. 2001 Jun;44(6):779-82	Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians.		150330	4280	1	2001	We conclude that  the LMNA 3408C/T variant probably does not play a role in susceptibility to diabetes or obesity in Pima Indians.	Cohort 1,338 Pima Indians Cohort 20 diabetic Pima Indians and non-diabetic Pima Indians										
129712	Y	adipocyte size, large subcutaneous abdominal	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Weyer, C.  et al. 2001	11243729				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Indian	Arizona	CDC GDPinfo	4000	Hs.491359			Molecular genetics and metabolism. 2001 Mar;72(3):231-8	Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21-q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians		150330	12202	2	2001	These findings indicate that approximately half of the variance in mean s.c. abd. AS can be attributed to familial factors and that genetic variation in LMNA might not only underlie rare cases of FPLD, but may also contribute to variation in adipocyte size in the general population.	Cohort 295 Pima Indians 										
129706	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Weyer C et al. 2001	11243729				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1		Arizona	KGB	4000	Hs.491359			Molecular genetics and metabolism. 2001 Mar;72(3):231-8	Subcutaneous abdominal adipocyte size a predictor of type 2 diabetes is linked to chromosome 1q21--q23 and is associated with a common polymorphism in LMNA in Pima Indians.		150330	4275	1	2001	These findings indicate that approximately half of the variance in mean s.c. abd. AS can be attributed to familial factors and that genetic variation in LMNA might not only underlie rare cases of FPLD, but may also contribute to variation in adipocyte size in the general population.	Cohort 295 Pima Indians										
129707	N	congenital generalized lipodystrophy	OTHER	OTH	Lipodystrophy	1	1q21.2-q21.3	LMNA	154318992	154376495	n	Kazlauskaite R et al. 2001	11298098				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			KGB	4000	Hs.491359			Clinical endocrinology. 2001 Mar;54(3):412-4	A case of congenital generalized lipodystrophy: metabolic effects of four dietary regimens. Lack of association of CGL with polymorphism in the lamin A/C Gene.		150330	4276	1	2001												
129709		dilated cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	1	1q21.2-q21.3	LMNA	154318992	154376495		Sebillon P 2003	12920062				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			KGB	4000	Hs.491359			Journal of medical genetics. 2003 Aug;40(8):560-7	Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.		150330	4278	1	2003	 For the first time, a specific phenotype characterised by early atrial fibrillation is associated with LMNA mutation. Conversely, mutations in LMNA appear as a rare cause of isolated dilated cardiomyopathy. The variable phenotypes observed in LMNA-DCM might be explained by the variability of functional consequences of LMNA mutations.											
129703		liver disease, chronic	OTHER	OTH	Liver Diseases|Cystic Fibrosis|Chronic Disease|Genetic Predisposition to Disease	18	18q21.3-q22	LMAN1	55148087	55177461		Gabolde, M.  et al. 2001	11333866				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2			CDC GDPinfo	3998	Hs.465295			Journal of medical genetics. 2001 May;38(5):310-1	The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis		601567	22760	2	2001	These data highlight the crucial role of mannose binding lectin in the clinical outcome of cystic fibrosis, as it has recently been shown that the mannose binding lectin gene is a modulating gene of the respiratory involvement in cystic fibrosis patients.	Cohort 216 homogeneous homozygous DeltaF508 patients 										
129704		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Cutaneous|Lupus Erythematosus, Systemic|Lupus Nephritis|Lupus Vasculitis, Central Nervous System	18	18q21.3-q22	LMAN1	55148087	55177461		Villarreal, J.  et al. 2001	11561111				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2	Spanish	Spain	CDC GDPinfo	3998	Hs.465295			Rheumatology (Oxford, England). 2001 Sep;40(9):1009-12	Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients.		601567	22761	2	2001	 The MBL gene codon 54 mutant allele appears to be a risk factor for SLE, whilst haplotypes encoding for high levels of MBL are protective against the disease. Differences between controls and patients were not significant when considering the FcgammaRIIa polymorphisms; similar results were observed for renal affectation.	Case:125 SLE patients:Barcelona, Spain;Control:138 geographically matched controls										
129705	Y	dyslipidemia and insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hyperlipidemias	1	1q21.2-q21.3	LMNA	154318992	154376495		Murase Y et al. 2002	12145775				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Japanese	Japan	KGB	4000	Hs.491359			Metabolism:  clinical and experimental. 2002 Aug;51(8):1017-21	An LMNA variant is associated with dyslipidemia and insulin resistance in the Japanese.		150330	4274	1	2002	These results suggest the LMNA 1908C/T single nucleotide polymorphism (SNP) is not associated with the prevalence of type 2 diabetes, although it may be a factor predisposing to insulin resistance and dyslipidemia in some Japanese.	Case:164 Japanese type 2 diabetic male subjects;Control:171 Japanese nondiabetic male subjects										
129700		sepsis; systemic inflammatory response syndrome	INFECTION	INF	Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome	18	18q21.3-q22	LMAN1	55148087	55177461		Garred, P.  et al. 2003	14593599				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2		Denmark	CDC GDPinfo	3998	Hs.465295			The Journal of infectious diseases. 2003 Nov;188(9):1394-403	Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome.		601567	12201	2	2003	These data show that MBL insufficiency plays an important role in the susceptibility of critically ill patients to the development and progression of sepsis and confers a substantial risk of fatal outcome.	Cohort 272 prospectively monitored patients with systemic inflammatory response syndrome 										
129701		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	18	18q21.3-q22	LMAN1	55148087	55177461		Best, L. G.  et al. 2004	14732744				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2	Indian		CDC GDPinfo	3998	Hs.465295			Circulation. 2004 Feb;109(4):471-5	Prospective Analysis of Mannose-Binding Lectin Genotypes and Coronary Artery Disease in American Indians. The Strong Heart Study		601567	18053	2	2004	 Variant MBL genotypes coding for markedly diminished levels of MBL are predictive of CAD. After adjustment for multiple traditional risk factors for ischemic heart disease, this association remains significant. A high prevalence of variant MBL alleles and CAD in this population suggests that potentially important public health benefits may accrue from future interventions based on these genotypes.	Case coronary artery disease cases from the Strong Heart:Study;Control healthy controls										
129697		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	18	18q21.3-q22	LMAN1	55148087	55177461		Garcia-Laorden MI 2003	12672193				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2		Spain	Y Wang	3998	Hs.465295			The Journal of rheumatology. 2003 Apr;30(4):740-6	Mannose binding lectin polymorphisms as a disease-modulating factor in women with systemic lupus erythematosus from Canary Islands, Spain.		601567	4273	1	2003	 MBL deficiency is not a risk factor for SLE in women from the Canary Islands, but it is associated with lower prevalence of autoantibodies and with later age at disease onset and at SLE diagnosis.											
129698		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	18	18q21.3-q22	LMAN1	55148087	55177461		Rector, A.  et al. 2001	11607788				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2			CDC GDPinfo	3998	Hs.465295			Genes and immunity. 2001 Oct;2(6):323-8	Mannan-binding lectin (MBL) gene polymorphisms in ulcerative colitis and Crohn's disease		601567	12199	2	2001	These results suggest that MBL mutations which decrease the formation of functional MBL could protect against the clinical development of sporadic UC, but not of CD. This could be explained by the differential T-helper response in both diseases.	Cohort 112 affected and 141 unaffected first-degree relatives ;Control:308 healthy control individuals;Case:431 unrelated inflammatory bowel disease patients										
129699	N	pneumococcal infection	INFECTION	INF	Bacteremia|Pneumococcal Infections|Genetic Predisposition to Disease	18	18q21.3-q22	LMAN1	55148087	55177461		Kronborg, G.  et al. 2002	11992290				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2		Denmark	CDC GDPinfo	3998	Hs.465295			The Journal of infectious diseases. 2002 May;185(10):1517-20	Variant mannose-binding lectin alleles are not associated with susceptibility to or outcome of invasive pneumococcal infection in randomly included patients.		601567	12200	2	2002	Thus, in a random adult population with invasive pneumococcal infection, MBL does not seem to play a role in the pathophysiology, in contrast to earlier observations in patients with other concomitant immune abnormalities.	Cohort 141 adult patients with invasive pneumococcal disease 										
129693		cholesterol, HDL	METABOLIC	MET		18	18q21.1	LIPG	45342424	45373276		Yamakawa-Kobayashi, K.  et al. 2003	12884003				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2	Japanese		CDC GDPinfo	9388	Hs.465102			Human genetics. 2003 Sep;113(4):311-5	Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children.		603684	18050	2	2003	Our data support the hypothesis that variations in the EL gene are one of the genetic determinants of serum HDL-C levels.	Cohort healthy school aged children 										
129694		cholesterol, HDL; triglycerides; lipoprotein	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	18	18q21.1	LIPG	45342424	45373276		Hutter, C. M.  et al. 2005	16023652				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2	Japanese		CDC GDPinfo	9388	Hs.465102			Atherosclerosis. 2006 Mar;185(1):78-86	Association of endothelial lipase gene (LIPG) haplotypes with high-density lipoprotein cholesterol subfractions and apolipoprotein AI plasma levels in Japanese Americans.		603684	18051	2	2005												
129695		triglycerides	METABOLIC	MET		18	18q21.1	LIPG	45342424	45373276		Reilly, M. P.  et al. 2005	15961789				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2			CDC GDPinfo	9388	Hs.465102			Journal of lipid research. 2005 Sep;46(9):1914-22	Higher order lipase gene association with plasma triglycerides.		603684	22759	2	2005												
129689		obesity	METABOLIC	MET	Obesity, Morbid	19	19q13.2	LIPE	47597505	47623418		Talmud, P. J.  et al. 2005	15871848			promoter	Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			Nutrition, metabolism, and cardiovascular diseases. 2005 Feb;15(1):31-5	Investigation into the role of the hormone sensitive lipase -60C>G promoter variant in morbid obesity		151750	18048	2	2005	 This study confirms a role for HSL in glucose homeostasis and the reduced frequency of the low expressing -60G promoter variant in obese individuals, together with existing published data, suggests that this allele might be protective against obesity.	Control:199 blood donors from the same region;Case:239/55 individuals from a German cohort of morbidly obese women (N=239) and men (N=55)										
129691	Y	HDL-cholesterol	METABOLIC	MET		18	18q21.1	LIPG	45342424	45373276	0.0086	Yamakawa-Kobayashi K 2003	12884003			5'promoter	Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2	Japanese		KGB	9388	Hs.465102			Human genetics. 2003 Sep;113(4):311-5	Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children.		603684	6634	1	2003	Our data support the hypothesis that variations in the EL gene are one of the genetic determinants of serum HDL-C levels.	Cohort healthy school aged children										
129692		cholesterol, HDL	METABOLIC	MET		18	18q21.1	LIPG	45342424	45373276		Paradis, M. E.  et al. 2003	12867537				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2			CDC GDPinfo	9388	Hs.465102			Journal of lipid research. 2003 Oct;44(10):1902-8	The T111I mutation in the EL gene modulates the impact of dietary fat on the HDL profile in women.		603684	18049	2	2003	This study demonstrated that the EL T111I mutation appears to have modest effect on plasma HDL levels. However, the observation of a gene-diet interaction effects among women suggest that the T111I missense mutation may confer protection against the lowering effect of a high dietary PUFA intake on plasma apoA-I and HDL3-C levels.	Cohort 281/216 women (n=281) and men (n=216) from theQubec Family Study 										
129686		body mass; body fat	METABOLIC	MET	Obesity	19	19q13.2	LIPE	47597505	47623418		Garenc, C.  et al. 2002	11850754				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			International journal of obesity and related metabolic disorders. 2002 Feb;26(2):220-7	The hormone-sensitive lipase gene and body composition: the HERITAGE Family Study.		151750	18045	2	2002	 These results suggest that the C-60G polymorphism in the LIPE gene plays a role in determining body composition and that its effect is sex-, race- and insulin-dependent.	Cohort 779 adult sedentary individuals participating in the HERITAGE Family Study [white (245 men and 258 women) and black (91 men and 185 women)] 										
129687	Y	insulin; lipids; glucose	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.2	LIPE	47597505	47623418		Talmud, P. J.  et al. 2002	12514936				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2		Europe	CDC GDPinfo	3991	Hs.95351			Nutrition, metabolism, and cardiovascular diseases. 2002 Aug;12(4):173-7	Association of the hormone sensitive lipase -60C > G variant with fasting insulin levels in healthy young men.		151750	18046	2	2002	 Even in these healthy young men, HSL-60 C > G allele was associated with effects on fasting insulin measures, and differences in insulin resistance and beta-cells function.	Case:407 men participating in the second European Atherosclerosis Study whose father had a proven myocardial infarction before the age os 55 years Baltic, Middle and South Europe, and UK;Control:415 age-matched males who were recruited irrespective of family history										
129688		cholesterol, LDL; cholesterol, total; lipoprotein	METABOLIC	MET		19	19q13.2	LIPE	47597505	47623418		Qi, L.  et al. 2004	14984467				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			Clinical genetics. 2004 Feb;65(2):93-100	Genetic variation at the hormone sensitive lipase:gender-specific association with plasma lipid and glucose concentrations.		151750	18047	2	2004	In summary, variation at this locus showed gender-specific associations with lipids and glucose measures, and the latter was influenced by alcohol drinking.	Cohort 373/361 a population of mostly overweight and obese men (n=373) and women (n=361) 	alcohol									
129683		insulin sensitivity; glucose disposal	METABOLIC	MET	Insulin Resistance|Obesity	19	19q13.2	LIPE	47597505	47623418		Stumvoll, M.  et al. 2001	11714847				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			Journal of lipid research. 2001 Nov;42(11):1782-8	Two novel prevalent polymorphisms in the hormone-sensitive lipase gene have no effect on insulin sensitivity of lipolysis and glucose disposal		151750	12196	2	2001	We conclude that  a number of genetic polymorphisms in HSL exist, some of which are highly prevalent. Neither of the polymorphisms we identified in the coding region, however, contributed measurably to the biological variation of insulin sensitivity in our lean, healthy population.	Cohort 73 healthy unrelated subjects 										
129684	Y	obesity	METABOLIC	MET	Obesity	19	19q13.2	LIPE	47597505	47623418		Lavebratt, C.  et al. 2002	12534454				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			European journal of clinical investigation. 2002 Dec;32(12):938-42	The hormone-sensitive lipase i6 gene polymorphism and body fat accumulation		151750	12197	2	2002	 HSLi6 A5 homozygosity is a risk factor for body fat accumulation.	Control:301 nonobese healthy individuals;Case:323 obese patients without other metabolic:complications										
129685		cholesterol, LDL; insulin sensitivity; fatty acid	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19q13.2	LIPE	47597505	47623418		Talmud, P. J.  et al. 2001	11731226			promoter	Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			Biochimica et biophysica acta. 2001 Nov;1537(3):239-44	Variation in the promoter of the human hormone sensitive lipase gene shows gender specific effects on insulin and lipid levels: results from the Elystudy.		151750	18044	2	2001	This study provides additional evidence for a role for HSL in the development of insulin resistance, from which carriers of the -60G allele, associated here with markers of insulin sensitivity in women, and with lower NEFA levels in men, might be protected.	Cohort 594 middle-aged individuals from Ely study (218 men and 276 women) 										
129680		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	15	15q21-q23	LIPC	56511466	56648364		Zee, R. Y.  et al. 2002	12082592				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		151670	28652	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129681	Y	decreased adipocyte lipolytic function	OTHER	OTH		19	19q13.2	LIPE	47597505	47623418		Hoffstedt J et al. 2001	11574428				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			KGB	3991	Hs.95351			Diabetes. 2001 Oct;50(10):2410-3	A common hormone-sensitive lipase i6 gene polymorphism is associated with decreased human adipocyte lipolytic function.		151750	4272	1	2001	We conclude that  allele 5 of the HSLi6 polymorphism is associated with a marked decrease in the lipolytic rate of abdominal fat cells. This may in turn contribute to the development of obesity.	Cohort 355 apparently healthy nonobese male and female subjects										
129682	Y	obesity; lipolysis	OTHER	OTH		19	19q13.2	LIPE	47597505	47623418		Hoffstedt, J.  et al. 2001	11574428				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDPinfo	3991	Hs.95351			Diabetes. 2001 Oct;50(10):2410-3	A common hormone-sensitive lipase i6 gene polymorphism is associated with decreased human adipocyte lipolytic function.		151750	12195	2	2001	We conclude that  allele 5 of the HSLi6 polymorphism is associated with a marked decrease in the lipolytic rate of abdominal fat cells. This may in turn contribute to the development of obesity.	Cohort 355 apparently healthy nonobese male and female subjects 										
129677		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Han, Z.  et al. 2002	12116231				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Micronesia	CDC GDPinfo	3990	Hs.188630			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		151670	27963	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
129678		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	15	15q21-q23	LIPC	56511466	56648364		McCarthy, J. J.  et al. 2003	14557872				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		151670	28077	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
129679		hypertension	CARDIOVASCULAR	CARD	Hypertension	15	15q21-q23	LIPC	56511466	56648364		Liljedahl, U.  et al. 2003	12544508				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		151670	28504	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
129674		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	15	15q21-q23	LIPC	56511466	56648364		van Aalst-Cohen, E. S.  et al. 2005	16030523				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		151670	27535	2	2005			alcohol beta blockers body mass smoking (tobacco)									
129675		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Vincent, S.  et al. 2002	12691171				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		151670	27536	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
129676		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Bertolini, S.  et al. 2004	15135251				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		151670	27786	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
129671		triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Souverein, O. W.  et al. 2005	15657615				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		151670	27072	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
129672		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Masana, L.  et al. 2001	11171287				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Spanish	Spain	CDC GDPinfo	3990	Hs.188630			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		151670	27073	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
129673	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q21-q23	LIPC	56511466	56648364		Baroni, M. G.  et al. 2003	12964943				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Italian	Italy	CDC GDPinfo	3990	Hs.188630			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		151670	27074	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
129667		cholesterol; cholesterol, HDL; lipoprotein; lipids	METABOLIC	MET	Coronary Artery Disease	15	15q21-q23	LIPC	56511466	56648364		Ayyobi, A. F.  et al. 2005	16039291				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Atherosclerosis. 2005 Aug;181(2):363-9	Cholesterol ester transfer protein (CETP) Taq1B polymorphism influences the effect of a standardized cardiac rehabilitation program on lipid risk markers.		151670	25190	2	2005												
129669		glucose tolerance	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Waterworth, D. M.  et al. 2005	15949705				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Europe	CDC GDPinfo	3990	Hs.188630			Biochimica et biophysica acta. 2005 Jun;1740(3):375-81	Interaction between insulin (VNTR) and hepatic lipase (LIPC-514C>T) variants on the response to an oral glucose tolerance test in the EARSII group of young healthy men.		151670	25192	2	2005												
129670		lipids	METABOLIC	MET	Cardiovascular Diseases	15	15q21-q23	LIPC	56511466	56648364		Pisciotta, L.  et al. 2003	14650352				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):202-10	Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.		151670	26370	2	2003	 Extended high-intensity PA in men aged over 40 years may modify their metabolic cardiovascular risk factors even in the presence of some unfavourable genotypes.	Case:100 men aged over 40 years who cycle 120-150 Km/week;Control:100 age-matched sedentary control	physical activity									
129663		cholesterol, HDL; triglycerides	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Arai, H.  et al. 2005	16205020				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Japanese		CDC GDPinfo	3990	Hs.188630			Journal of atherosclerosis and thrombosis. 2005 ;12(5):240-50	Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000.		151670	25186	2	2005												
129665		lipids	METABOLIC	MET	Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Talmud, P. J.  et al. 2001	11533368				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Pediatrics. 2001 Sep;108(3):E50	Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study.		151670	25188	2	2001	 All genotypes were associated with clear relationships to plasma lipid levels in adults, but the effects were weaker in their children, unless stressed by body fat. atherosclerosis, cardiovascular disease, child, lipids, genetics.	Cohort 495 children and their parents (n=353) in the Columbia University BioMarkers Study 1994-1998 										
129666		lipoprotein	METABOLIC	MET	Myocardial Ischemia	15	15q21-q23	LIPC	56511466	56648364		Humphries, S. E.  et al. 2002	12514935				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	non-Hispanic, Hispanic		CDC GDPinfo	3990	Hs.188630			Nutrition, metabolism, and cardiovascular diseases. 2002 Aug;12(4):163-72	Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: theColumbia University BioMarkers Study		151670	25189	2	2002	 These data confirm the role of genetic variants of CETP, LPL and APOC3 in determining the relationship between VLDL, LDL and HDL particles.	Cohort 264/95 Hispanic men (n=40) and women (n=223) and non-Hispanic Caucasian men (n=42) and women (n=53) 										
129659		cholesterol, HDL	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Inazu, A.  et al. 2001	11322655				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Japanese		CDC GDPinfo	3990	Hs.188630			Journal of human genetics. 2001 ;46(4):172-7	Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population.		151670	22757	2	2001	These genetic attributes may be among the many factors that contribute to the relatively higher serum HDL-C levels in Japanese subjects.	Cohort 299 men from the general population Japan 										
129660		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Stenosis|Neovascularization, Pathologic|Postoperative Complications	15	15q21-q23	LIPC	56511466	56648364		Zambon, A.  et al. 2005	16005462				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Atherosclerosis. 2006 Mar;185(1):121-6	Common hepatic lipase gene promoter variant predicts the degree of neointima formation after carotid endarterectomy: Impact of plaquecomposition and lipoprotein phenotype.		151670	22758	2	2005	 The LIPC promoter -514 C-T polymorphism is associated with a significantly reduced development of neointima after surgery. This effect seems to be mediated by scarcity of SMC in the plaque of CC carriers who display an excess prevalence of cerebrovascular events prior endarterectomy but are at low risk for restenosis. The pre-operative lipid phenotype plays a marginal role in the neointima formation.											
129662		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Hegele, R. A.  et al. 2001	11512679				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	3990	Hs.188630			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		151670	25185	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
129656	Y	obesity	METABOLIC	MET	Obesity	15	15q21-q23	LIPC	56511466	56648364		Carr, M. C.  et al. 2003	14657196				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Japanese	Japan	CDC GDPinfo	3990	Hs.188630			Journal of lipid research. 2004 Mar;45(3):466-73	Ethnic differences in hepatic lipase and HDL in Japanese, black, and white Americans: role ofcentral obesity and LIPC polymorphisms.		151670	18039	2	2003	1) the LIPC promoter polymorphism contributes to variation in HLA and HDL(2) in the three ethnic groups; 2) WA men had higher HLA than BA and JA men, related to ethnic differences in central adiposity but not LIPC allele frequency; and 3) the higher HLA in WA men did not contribute to the ethnic differences in HDL, as the differences in HDL were made up entirely of differences in HDL(3) and not HDL(2).	Cohort 84/94/110 Japanese (n=84), Black (n=94) and White (n=110) American men and women 										
129657		triglycerides	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Reilly, M. P.  et al. 2005	15961789				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Journal of lipid research. 2005 Sep;46(9):1914-22	Higher order lipase gene association with plasma triglycerides.		151670	18041	2	2005												
129658		glucose tolerance; lipid metabolism	METABOLIC	MET	Microvascular Angina|Arteriosclerosis	15	15q21-q23	LIPC	56511466	56648364		Jansen, H.  et al. 2001	11427182				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Annals of human genetics. 2001 May;65(Pt 3):237-43	Interaction of the common apolipoprotein C-III (APOC3 -482C > T) and hepatic lipase (LIPC -514C > T) promoter variants affects glucose tolerance in young adults. European Atherosclerosis Research Study II (EARS-II).		151670	22756	2	2001		Cohort 714 healthy young males participating in the second European Atherosclerosis Research Study (EARS-II) 										
129653	Y	triglycerides; insulin	METABOLIC	MET	Insulin Resistance	15	15q21-q23	LIPC	56511466	56648364		Yabu, Y.  et al. 2005	16077949	( -514 C-->T)		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Japanese	Japan	CDC GDPinfo	3990	Hs.188630			International journal of molecular medicine. 2005 Sep;16(3):421-5	C-514T polymorphism in hepatic lipase gene promoter is associated with elevated triglyceride levels and decreasing insulin sensitivity in nondiabetic Japanese subjects.		151670	12192	2	2005												
129654		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	15	15q21-q23	LIPC	56511466	56648364		Berk-Planken, I. I.  et al. 2003	12547874				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Diabetes care. 2003 Feb;26(2):427-32	Atorvastatin Dose-Dependently Decreases Hepatic Lipase Activity in Type 2 Diabetes: Effect of sexand the LIPC promoter variant		151670	18036	2	2003	 Sex, LIPC promoter variant, and ethnicity significantly contribute to the baseline variance in HL activity. Atorvastatin treatment in diabetic dyslipidemia results in a significant dose-dependent decrease in HL activity, regardless of sex or the LIPC promoter variant.	Cohort 198 patients with type 2 diabetes without manifest coronary artery disease, total cholesterol 4.0-8.0 mmol/l, and fasting triglycerides [TG] 1.5-6.0 mmol/l) 	atorvastatin									
129655		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Hokanson, J. E.  et al. 2003	14585761				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			American journal of epidemiology. 2003 Nov;158(9):836-43	Effects of the hepatic lipase gene and physical activity on coronary heart disease risk.		151670	18038	2	2003	Thus, in this prospective cohort study, the LIPC-480 TT genotype increased susceptibility to CHD only in those subjects with normal levels of physical activity, not in those with the high-risk genotype who were vigorously active.	Cohort 966 Hispanics and non-Hispanic Whites followed for 14 years 1984-1998 										
129650	Y	cholesterol, HDL; triglycerides	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Tai, E. S.  et al. 2003	14608050	( -514 C-->T)		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			The Journal of nutrition. 2003 Nov;133(11):3399-408	Dietary fat interacts with the -514C>T polymorphism in the hepatic lipase gene promoter on plasma lipid profiles in a multiethnic Asian population: the1998 Singapore National Health Survey.		151670	12183	2	2003	In conclusion, our results indicate that there are differences in the association of -514C>T polymorphism with plasma lipids according to dietary intake and ethnic background. Specifically, the TT genotype is associated with a more atherogenic lipid profile when subjects consume diets with a fat content > 30%.	Cohort 1,324/471/375 Singaporeans of Chinese (n=1,324), Malaysian (n=471) and Asian Indian (n=375) descent 	fat									
129651	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		De Andrade, F.  et al. 2004	15099346	( -250G/A)		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Brazil	CDC GDPinfo	3990	Hs.188630			Clinical genetics. 2004 May;65(5):390-5	Association between -250G/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL-C levels in a Southern Brazilian population.		151670	12185	2	2004	Thus, our results show that the -250G/A polymorphism in the HL gene is associated with significant variations in HDL-C levels and CAD risk in males.	Control:140 population-based controls;Case:231 male coronary artery disease patients:Cohort:514 men and women from a population-based sample										
129652	Y	insulin	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus, Type 2|Insulin Resistance|Hyperlipidemias	15	15q21-q23	LIPC	56511466	56648364		Machicao, F.  et al. 2004	15156410	( -514 C-->T)		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Germany	CDC GDPinfo	3990	Hs.188630			Horm Metab Res. 2004 May;36(5):303-6	Association of the -514C-->T polymorphism in the Hepatic Lipase Gene (LIPC) Promoter with Elevated Fasting Insulin Concentrations, but not Insulin Resistance, in Non-diabetic Germans		151670	12187	2	2004	In conclusion, we have provided evidence that, among the metabolic parameters tested, the hepatic lipase -514C-->T gene polymorphism correlates with elevated fasting insulin concentrations in a German population. Since no corresponding difference in insulin sensitivity was seen in the clamp-subgroup, an effect of this polymorphism on insulin clearance has to be considered.	Cohort 535 normal glucose-tolerant Germans Germany 										
129647	Y	coronary artery disease	METABOLIC	MET	Carcinoma, Hepatocellular|Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Su, Z.  et al. 2002	12364543			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Chinese		CDC GDPinfo	3990	Hs.188630			Journal of lipid research. 2002 Oct;43(10):1595-601	A novel allele in the promoter of the hepatic lipase is associated with increased concentration of HDL-C and decreased promoter activity.		151670	12179	2	2002	Our studies suggest that a T-to-C substitution at -586 of the LIPC promoter is associated with a lowered HL activity and that this variation may contribute to the increased plasma HDL-C concentration in the Chinese.	Cohort Chinese patients with coronary artery disease 										
129648		cholesterol, HDL	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Ordovas, J. M.  et al. 2002	12403660			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Circulation. 2002 Oct;106(18):2315-21	Dietary fat intake determines the effect of a common polymorphism in the hepatic lipase gene promoter on high-density lipoprotein metabolism:evidence of a strong dose effect in this gene-nutrient interaction in the Framingham Study.		151670	12180	2	2002	 Dietary fat intake modifies the effect of the -514(C/T) polymorphism on HDL-C concentrations and subclasses. Specifically, in the Framingham Study, TT subjects may have an impaired adaptation to higher animal fat diets that could result in higher cardiovascular risk.	Cohort 1020/1110 men (n=1020) and women (n=1110) participating in the Framingham Study 	fat									
129649		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Su, Z. G.  et al. 2003	12883629	A(+884)-->G			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica. 2003 Jul;35(7):606-10	A novel polymorphism A(+884)-->G in the hepatic lipase gene and its association with coronary artery disease.		151670	12182	2	2003	The prevalence of the G+884 allele was significantly higher in the CAD patients than that in control subjects (31.4% vs. 21.3%, chi(2) =4.652, df=1, P=0.031). Data from the linkage disequilibrium analysis showed that the A(+884)-->G polymorphism was strong in linkage disequilibrium with the T(-2)-->C variation we identified previously(D'=0.699, 0.742 in CAD patients and controls, respectively), and the frequency of the C(-2)/G(+884) haplotype (mutation) is significantly higher in CAD patients than that in controls (0.253 vs. 0.172, P<0.05).	Case Chinese patients with coronary artery disease;Control normal controls										
129644	Y	coronary calcification	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Calcinosis|Diabetes Mellitus, Type 1	15	15q21-q23	LIPC	56511466	56648364		Hokanson, J. E.  et al. 2002	11916946			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		Colorado	CDC GDPinfo	3990	Hs.188630			Diabetes. 2002 Apr;51(4):1208-13	A common promoter polymorphism in the hepatic lipase gene (LIPC-480C>T) is associated with an increase in coronary calcification in type 1 diabetes.		151670	12176	2	2002	In conclusion, the LIPC-480C>T polymorphism was associated with subclinical CHD in type 1 diabetes. This genetic variant may identify subjects in which early intervention to prevent CHD may be appropriate.	Cohort type 1 diabetic patients 										
129645	Y	carotid artery stenosis	CARDIOVASCULAR	CARD	Carotid Stenosis	15	15q21-q23	LIPC	56511466	56648364		Faggin, E.  et al. 2002	12354428	( -514 C-->T)		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Journal of the American College of Cardiology. 2002 Sep;40(6):1059-66	Association between the --514 C-->T polymorphism of the hepatic lipase gene promoter and unstable carotid plaque in patients with severe carotid artery stenosis.		151670	12177	2	2002	 We provide evidence, for the first time, that LIPC promoter -514 C-->T polymorphism, by modulating LDL density, significantly affects the number of macrophages in the plaque and possibly affects the occurrence of cerebrovascular events in patients with carotid artery stenosis.	Cohort 68 consecutive patients undergoing carotid endarterectomy 										
129646	N	cholesterol, HDL; cholesterol, LDL; cholesterol, total; apoA1; apoB; apoE; apoC-III	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Somekawa, Y.  et al. 2002	12364471				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Japanese		CDC GDPinfo	3990	Hs.188630			The Journal of clinical endocrinology and metabolism. 2002 Oct;87(10):4766-70	Effects of Hormone Replacement Therapy and Hepatic Lipase Polymorphism on Serum Lipid Profiles in Postmenopausal Japanese Women		151670	12178	2	2002	Effects of HRT on serum lipids, lipoproteins, and remnant lipoprotein metabolism were unaffected by the HL polymorphism.	Cohort 209 postmenopausal Japanese women 										
129640		HDL cholesterol levels	CARDIOVASCULAR	CARD		15	15q21-q23	LIPC	56511466	56648364		Chen W 2003	12860265			5'promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Atherosclerosis. 2003 Jul;169(1):175-82	Hepatic lipase promoter C-514T polymorphism influences serial changes in HDL cholesterol levels since childhood: the Bogalusa Heart Study.		151670	4269	1	2003												
129641		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Genetic Predisposition to Disease|Weight Loss	15	15q21-q23	LIPC	56511466	56648364		Todorova B 2004	15126514	G-250A			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Finnish		Y Wang	3990	Hs.188630			The Journal of clinical endocrinology and metabolism. 2004 May;89(5):2019-23	The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study.		151670	4270	1	2004	We conclude that  the G-250G genotype of the LIPC gene is a risk factor for type 2 diabetes. Therefore, genes regulating lipid and lipoprotein metabolism may be potential candidate genes for type 2 diabetes.											
129643		diabetes, type 2; hepatic lipase activity	METABOLIC	MET	Diabetes Mellitus, Type 2	15	15q21-q23	LIPC	56511466	56648364		Tan, K. C.  et al. 2001	11427226				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Chinese	China	CDC GDPinfo	3990	Hs.188630			Atherosclerosis. 2001 Jul;157(1):233-9	Effects of gender, hepatic lipase gene polymorphism and type 2 diabetes mellitus on hepatic lipase activity in Chinese.		151670	12174	2	2001	In conclusion, despite the higher frequency of the T allele in Chinese than in Caucasians, gender was the best predictor for HL activity, with LIPC gene polymorphism and type 2 diabetes making relatively smaller contributions to the variation in HL activity.	Case:203 patients with type 2 diabetes:Chinese;Control:205 non-smoking, recruited from hospital personnel and:advertisement:Chinese										
129636	Y	heritable lipolytic deficiency.	OTHER	OTH		15	15q21-q23	LIPC	56511466	56648364		Hegele RA et al. 1991	1671786				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			The Journal of clinical endocrinology and metabolism. 1991 Mar;72(3):730-2	A hepatic lipase gene mutation associated with heritable lipolytic deficiency.		151670	4265	1	1991												
129637	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364	0.003	Am J Epidemiol 2003; 158:836-843	14585761	-480		5'promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Population based cohort		John E. Hokanson	3990	Hs.188630	clinical events		American journal of epidemiology. 2003 Nov;158(9):836-43	Effects of the hepatic lipase gene and physical activity on coronary heart disease risk		151670	4266	1	2003	Thus, in this prospective cohort study, the LIPC-480 TT genotype increased susceptibility to CHD only in those subjects with normal levels of physical activity, not in those with the high-risk genotype who were vigorously active.	Cohort 966 Hispanics and non-Hispanic Whites followed for 14 years 1984-1998										
129638	Y	low hepatic lipase activity	OTHER	OTH		15	15q21-q23	LIPC	56511466	56648364		Nie L et al. 1998	9741704				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	african americans		KGB	3990	Hs.188630			Journal of lipid research. 1998 Sep;39(9):1900-3	Three polymorphisms associated with low hepatic lipase activity are common in African Americans.		151670	4267	1	1998												
129639		normal variation	NORMALVARIATION	NV		15	15q21-q23	LIPC	56511466	56648364		Xin X 2003	14564687	Serine447Stop variant			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630	young adults		Metabolism:  clinical and experimental. 2003 Oct;52(10):1337-42	Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study.		151670	4268	1	2003												
129632	Y	increased concentration of HDL-C and decreased promoter activity	METABOLIC	MET	Carcinoma, Hepatocellular|Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Su Z et al. 2002	12364543			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Journal of lipid research. 2002 Oct;43(10):1595-601	A novel allele in the promoter of the hepatic lipase is associated with increased concentration of HDL-C and decreased promoter activity.		151670	4261	1	2002	Our studies suggest that a T-to-C substitution at -586 of the LIPC promoter is associated with a lowered HL activity and that this variation may contribute to the increased plasma HDL-C concentration in the Chinese.	Cohort Chinese patients with coronary artery disease										
129633	Y	lower levels of hepatic lipase activity buoyant LDL and higher HDL2 cholesterol	OTHER	OTH		15	15q21-q23	LIPC	56511466	56648364		Zambon A et al. 1998	9812910			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Arteriosclerosis, thrombosis, and vascular biology. 1998 Nov;18(11):1723-9	Common variants in the promoter of the hepatic lipase gene are associated with lower levels of hepatic lipase activity buoyant LDL and higher HDL2 cholesterol.		151670	4262	1	1998												
129635	N	Post- Heparin Hepatic Lipase Activity ???????	OTHER	OTH	Arteriosclerosis	15	15q21-q23	LIPC	56511466	56648364	n	Hegele RA 1999	10487498	``-480T			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Canadian	Canada	TJB	3990	Hs.188630			Atherosclerosis. 1999 Sep;146(1):153-60			151670	4264	1	1999												
129628		plasma lipid levels	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Shohet RV et al. 2002	11968086				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Human mutation. 2002 May;19(5):536-42	Sources of variability in genetic association studies: insights from the analysis of hepatic lipase (LIPC).		151670	4257	1	2002												
129630	Y	high plasma concentrations of high density lipoprotein ch	OTHER	OTH	Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Guerra R et al. 1997	9114024				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1		United States	KGB	3990	Hs.188630			Proceedings of the National Academy of Sciences of the United States of America. 1997 Apr;94(9):4532-7	A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol.		151670	4259	1	1997												
129631	Y	carotid artery stenosis	CARDIOVASCULAR	CARD	Carotid Stenosis	15	15q21-q23	LIPC	56511466	56648364		Faggin E et al. 2002	12354428			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Journal of the American College of Cardiology. 2002 Sep;40(6):1059-66	Association between the --514 C-->T polymorphism of the hepatic lipase gene promoter and unstable carotid plaque in patients with severe carotid artery stenosis.		151670	4260	1	2002	 We provide evidence, for the first time, that LIPC promoter -514 C-->T polymorphism, by modulating LDL density, significantly affects the number of macrophages in the plaque and possibly affects the occurrence of cerebrovascular events in patients with carotid artery stenosis.	Cohort 68 consecutive patients undergoing carotid endarterectomy										
129624	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364	n	Hong SH 2000	10936588	``-250 and -514 promoter polymorphisms			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Korean	Korea	TJB	3990	Hs.188630			Clinical biochemistry. 2000 Jun;33(4):291-6			151670	4253	1	2000	 The -514 promoter polymorphism may fluctuate on the lipid levels due to linkage disequilibria with other polymorphisms of the LIPC gene or nearby genes. The difference of the -250 promoter allele frequencies among the different populations may partially explain the variation of the HDL levels in ethnic groups. To elucidate the more exact associations of LIPC polymorphism with the plasma lipid levels, the precise biochemical mechanisms of the LIPC alleles are required.	Case:137; Control:124										
129625	N	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease	15	15q21-q23	LIPC	56511466	56648364	n	Tahvanainen E 1998	9486964	``-514. C/C. C/T. and T/T ???????			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Finnish		TJB	3990	Hs.188630			The Journal of clinical investigation. 1998 Mar;101(5):956-60			151670	4254	1	1998												
129626		HDL Cholesterol	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Knoblauch H 2002	12023990				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	German		TJB	3990	Hs.188630			Human molecular genetics. 2002 Jun;11(12):1477-85			151670	4255	1	2002												
129627	Y	lipoprotein subclass profiles	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Couture P et al. 2000	10712408				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Arteriosclerosis, thrombosis, and vascular biology. 2000 Mar;20(3):815-22	Association of the C-514T polymorphism in the hepatic lipase gene with variations in lipoprotein subclass profiles: The Framingham Offspring Study.		151670	4256	1	2000												
129621	Y	acid lipase deficiency and cholesterol ester storage disease	METABOLIC	MET	Cholesterol Ester Storage Disease	10	10q23.2-q23.3	LIPA	90963309	91164362		Seedorf U et al. 1995	7773732	(Leu336-->Pro)			Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2			KGB	3988	Hs.127445			Arteriosclerosis, thrombosis, and vascular biology. 1995 Jun;15(6):773-8	A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease.		278000	4252	1	1995	We conclude that  the L336P variant appears to be associated with a phenotypically mild form of CESD.											
129622	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23.2-q23.3	LIPA	90963309	91164362		Riemenschneider, M.  et al. 2004	15465627				Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2		Germany	CDC GDPinfo	3988	Hs.127445			Neurobiology of aging. 2004 Nov-Dec;25(10):1305-8	Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease.		278000	25182	2	2004	We conclude that  the investigated genetic variations do not contribute to the genetic risk of AD.	Control:162:controls;Case:286 patients with Alzheimer's disease										
129623		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23.2-q23.3	LIPA	90963309	91164362		Papassotiropoulos, A.  et al. 2005	16013913				Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2		Greece|Switzerland	CDC GDPinfo	3988	Hs.127445			The Journal of clinical psychiatry. 2005 Jul;66(7):940-7	A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.		278000	25183	2	2005	 Our results establish a novel approach for the identification of disease-related genetic clusters and demonstrate the need for multi-locus methods in the genetics of complex diseases.											
129618	N	atopy	OTHER	OTH	Hypersensitivity, Immediate	19	19q13.4	LILRB4	59847151	59871658	n	Heinzmann A et al. 2000	10940079			splice variant	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4				KGB	11006	Hs.67846			European journal of immunogenetics. 2000 Jun;27(3):121-7	Common polymorphisms and alternative splicing in the ILT3 gene are not associated with atopy.		604821	6690	1	2000												
129619	Y	cholesteryl ester storage disease	METABOLIC	MET	Cholesterol Ester Storage Disease	10	10q23.2-q23.3	LIPA	90963309	91164362		Gasche C et al. 1997	9365051				Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2			KGB	3988	Hs.127445	mild phenotype and improvement on lovastatin		Journal of hepatology. 1997 Oct;27(4):744-50	A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin.		278000	4250	1	1997	We conclude that  in two siblings with a novel LAL variant and mild phenotype of CESD, lovastatin decreased both serum lipid concentrations and hepatocellular lysosomal content.											
129620	N	Dyslipidaemia	METABOLIC	MET		10	10q23.2-q23.3	LIPA	90963309	91164362		Muntoni et al. 1996	8566968	LAL Thr-6Pro	Thr-6Pro	coding sequence	Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2	Germany, Japan, Italy (Sardinia)		HW	3988	Hs.127445	CESD (Cholesterol Ester Storrage Disease)		Human genetics. 1996 Feb;97(2):265-7	A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations		278000	4251	1	1996	We conclude that  this mutation appears to be a frequent LAL gene polymorphism causing no impaired function of the enzyme and no measurable dyslipidemia in the general population.											
129614	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	LILRA3	59411958	59496050		Moodie, S. J.  et al. 2002	12121272				Leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006865.2			CDC GDPinfo	11026	Hs.113277			European journal of immunogenetics. 2002 Aug;29(4):287-91	Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIRand LILR gene clusters.		604818	27071	2	2002	Case-control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.	Case:132 unrelated UK Caucasian coeliac patients;Control:171 UK Caucasians										
129615	N	Atopy	OTHER	OTH	Hypersensitivity, Immediate	19	19q13.4	LILRB4	59847151	59871658	n	Heinzmann A 2000	10940079	Del1216-12			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		German		KGB	11006	Hs.67846			European journal of immunogenetics. 2000 Jun;27(3):121-7			604821	6687	1	2000												
129616	N	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	19	19q13.4	LILRB4	59847151	59871658	n	Heinzmann A 2000	10940079	Asn312Asp			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		German		KGB	11006	Hs.67846			European journal of immunogenetics. 2000 Jun;27(3):121-7			604821	6688	1	2000												
129611		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q33-q34	LIG4	107657792	107668717		Goode, E. L.  et al. 2002	12036913				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		601837	28297	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
129612	N	psoriasis	IMMUNE	IMM	Psoriasis	19	19q13.4	LILRA3	59411958	59496050		Wisniewski, A.  et al. 2003	12651072				Leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006865.2			CDC GDPinfo	11026	Hs.113277			Human immunology. 2003 Apr;64(4):458-61	Distribution of LILRA3 (ILT6/LIR4) deletion in psoriatic patients and healthy controls.		604818	18029	2	2003	No differences in frequencies of the LILRA3 deletion were found between controls and patients or between HLA-Cw6(+) and HLA-Cw6(-) controls or patients, suggesting that LILRA3 has no role in psoriasis.	Case:103 patients diagnosed with psoriasis vulgaris Low Silesia region;Control:108 healthy individuals										
129613	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.4	LILRA3	59411958	59496050		Koch, S.  et al. 2005	15815690				Leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006865.2			CDC GDPinfo	11026	Hs.113277			Genes and immunity. 2005 Aug;6(5):445-7	Association of multiple sclerosis with ILT6 deficiency.		604818	18030	2	2005	ILT6 deficiency is associated with MS in the German population and hence a likely risk factor for autoimmune disorders.	Control:607 blood donors;Case:751/89 Caucasian German (n=751) and French (n=89) multiple sclerosis patients										
129607		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Han, J.  et al. 2003	14578164				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		601837	14832	2	2003	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
129609	Y	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Bau, D. T.  et al. 2004	15256476				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Cancer research. 2004 Jul;64(14):5013-9	Breast cancer risk and the DNA double-strand break end-joining capacity of nonhomologous end-joining genes are affected by BRCA1.		601837	22754	2	2004	Because BRCA1 is a well-documented breast cancer susceptibility gene, this association between NHEJ and BRCA1 not only suggests a role of BRCA1 in NHEJ but also provides essential support for the tumorigenic contribution of NHEJ in breast cancer development..	Case:469 breast cancer patients;Control:740 healthy controls										
129610		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q33-q34	LIG4	107657792	107668717		Lee, K. M.  et al. 2005	15958648				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		601837	25181	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
129604	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Han J 2004	14578164	C299T (5'-UTR) and T1977C (D501D)			Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			KGB	3981	Hs.166091			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		601837	4249	1	2004	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
129605		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Fu, Y. P.  et al. 2003	12750264				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Cancer research. 2003 May;63(10):2440-6	Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.		601837	13323	2	2003	Based on comprehensive NHEJ gene profiles, this study provides new insights to suggest the role of the NHEJ pathway in breast cancer development and supports the possibility that breast cancer is initiated by estrogen exposure, which causes DNA DSBs.	Control:379 healthy controls;Case:254 primary breast cancer patients										
129606	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Sakiyama, T.  et al. 2004	15609317				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			International journal of cancer. Journal international du cancer. 2005 May;114(5):730-7	Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk		601837	13496	2	2004	The present results suggest that these 4 SNPs function as genetic factors underlying lung cancer susceptibility by modulating activities to maintain the genome integrity of each individual.	Control:685:controls;Case:752/250 adenocarcinoma cases (n=752) and squamous cell carcinoma cases (n=250)										
129600	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	LIG1	53310514	53365372		Shen, H.  et al. 2002	12009232				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1			CDC GDPinfo	3978	Hs.1770			Lung cancer (Amsterdam, Netherlands). 2002 Jun;36(3):243-7	Polymorphism of DNA ligase I and risk of lung cancer-a case-control analysis		126391	12172	2	2002	The results of this large case-control study suggest that this LIG1 polymorphism may not play an important role in susceptibility to lung cancer.	Case:530 lung cancer cases;Control:570 cander-free controls	smoking (tobacco)									
129601		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2-q13.3	LIG1	53310514	53365372		Lee, K. M.  et al. 2005	15958648				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1			CDC GDPinfo	3978	Hs.1770			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		126391	22753	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
129602		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	LIG3	30331650	30356201		Hao, B.  et al. 2004	15205355				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2	Chinese		CDC GDPinfo	3980	Hs.100299			Cancer research. 2004 Jun;64(12):4378-84	Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma		600940	18027	2	2004	The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.	Control;Case;Case:419 Chinese patients with newly diagnosed esophageal:cancer;Control:480 healthy controls mathched on age and sex										
129596		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.32	LHB	54211048	54212159		Douglas, J. A.  et al. 2005	16103457				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2			CDC GDPinfo	3972	Hs.154704			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):2035-9	Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.		152780	25180	2	2005												
129597	Y	familial male-limited precocious puberty.	OTHER	OTH	Puberty, Precocious	2	2p21	LHCGR	48767416	48836367		Cocco S et al. 1996	8829636				Luteinizing hormone/choriogonadotropin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000233.2		Italy	KGB	3973	Hs.468490			Human mutation. 1996 ;7(2):164-6	A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.		152790	4248	1	1996												
129599		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1p31.1	LHX8	75366706	75399806			16327884				LIM homeobox 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001933.1			CDC GDPinfo	431707	Hs.403934			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		604425	26369	2	2005												
129593		testosterone; epitestosterone; follicle stimulating homone; luteinizing homone; sex horomone binding globulin	METABOLIC	MET		19	19q13.32	LHB	54211048	54212159		Hill, M.  et al. 2001	11829319				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2			CDC GDPinfo	3972	Hs.154704			Physiological research. 2001 ;50(6):583-7	Genetic variant of luteinizing hormone: impact ongonadal steroid sex hormones in women.		152780	18022	2	2001	The carriers of the variant LH allele in the group of postmenopausal women showed higher serum testosterone levels than those with the wild type LH. This is in agreement with the clinical observations made previously showing a slightly higher androgenic action in the population with variant LH. No differences were detected in serum LH, FSH, epitestosterone and sex hormone binding globulin (SHBG).	Cohort 177 normal women 16 to 72 years old 										
129594		ovulatory dysfunctions	REPRODUCTION	REP	Ovarian Diseases|Endometriosis	19	19q13.32	LHB	54211048	54212159		Takahashi, K.  et al. 2003	12734546				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2	Japanese	Japan	CDC GDPinfo	3972	Hs.154704			European journal of human genetics. 2003 May;11(5):402-8	Influence of missense mutation and silent mutation of LHbeta-subunit gene in Japanese patients with ovulatory disorders		152780	18023	2	2003	The frequencies of novel alleles (C(894)-T, C(1098)-T and C(1423)-T) in patients with ovulatory disorders were significantly higher than those with normal ovulatory cycles. The mean incidence of point mutation in patients with ovulatory disorders was higher than in those with normal ovulatory cycles. Among patients with variant LH, five silent mutations were identified in 87.5% of patients with ovulatory disorders, whereas only a few silent mutations were identified in patients with normal ovulatory cycles. In a Japanese population, five silent mutations of variant LH could have influenced two missense mutations and/or other unknown missense mutations, causing ovulatory disorders.	Case:43 patients with ovulatory disorders:Japan;Control:79/23 patients with normal ovulatory cycles (n=79) and healthy men (n=23)										
129595		hypogonadism	METABOLIC	MET	Hypogonadism	19	19q13.32	LHB	54211048	54212159			16358135				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2			CDC GDPinfo	3972	Hs.154704			VernacularTitle. 2005 Dec;60(6):461-464	Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism		152780	18024	2	2005	 This study indicates that the allelic variant Trp8Arg/Ile15Thr of the luteinizing hormone beta-subunit gene is a common polymorphism in the Brazilian population (14.4%). The same frequency of this luteinizing hormone variant in the groups with hypogonadotropic hypogonadism and in the healthy subjects excludes a relationship between this variant and hypogonadotropic hypogonadism.											
129590	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	19	19q13.12	LGI4	40307256	40325195		Gu, W.  et al. 2003	14505228				Leucine-rich repeat LGI family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139284.1			CDC GDPinfo	163175	Hs.65256			Neurogenetics. 2004 Feb;5(1):41-4	Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.		608303	12168	2	2003	A genotypic association was found for the c.1914GC-->AT polymorphism providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.	Control:110 population controls;Case:42 childhood absence epilepsy patients										
129591		cryptochidism	DEVELOPMENTAL	DEV	Cryptorchidism	13	13q13.1	RXFP2	31211678	31275009		Roh, J.  et al. 2003	14656401				Leucine-rich repeat-containing G protein-coupled receptor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF403384	Finnish	Finland	CDC GDPinfo	122042	Hs.531002			Reproductive biomedicine online. 2003 Oct-Nov;7(4)	Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism.		606655	16990	2	2003	These data indicate that mutations involving the human LGR8 gene do not represent a frequent cause of cryptorchidism in the Finnish population.	Case:23 cryptochid Finnish patients:Finland;Control:33 control subjects										
129592	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.32	LHB	54211048	54212159		Elkins, D. A.  et al. 2003	12746844				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2			CDC GDPinfo	3972	Hs.154704			The Prostate. 2003 Jun;56(1):30-6	Luteinizing hormone beta polymorphism and risk of familial and sporadic prostate cancer.		152780	12169	2	2003	 These data are consistent with the hypothesis that the LH-beta variant is a weak risk factor for prostate cancer.	Case:466/388 familial prostate cancer patients (n=466) and sporadic prostate cancer patients (n = 388);Control:510 controls without prostate cancer										
129587		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease|Inflammation	22	22q12-q13	LGALS2	36296198	36305970		Ozaki, K.  et al. 2004	15129282				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2		Japan	CDC GDPinfo	3957	Hs.531776			Nature. 2004 May;429(6987):72-5	Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro.		150571	18020	2	2004	Our findings thus suggest a link between the LTA cascade and the pathogenesis of MI.	Control:controls;Case Japanese myocardial infarction cases										
129588		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	22	22q12-q13	LGALS2	36296198	36305970		Ozaki, K.  et al. 2005	15990958				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2			CDC GDPinfo	3957	Hs.531776			Cellular and molecular life sciences. 2005 Aug;62(16):1804-13	Genome-wide association study to identify SNPs conferring risk of myocardial infarction and their functional analyses.		150571	18021	2	2005												
129589	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	19	19q13.12	LGI4	40307256	40325195		Gu W 2004	14505228				Leucine-rich repeat LGI family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139284.1			KGB	163175	Hs.65256			Neurogenetics. 2004 Feb;5(1):41-4	Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.		608303	6865	1	2004	A genotypic association was found for the c.1914GC-->AT polymorphism providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region.	Control:110 population controls;Case:42 childhood absence epilepsy patients										
129583		obesity; weight loss	METABOLIC	MET	Obesity, Morbid|Weight Loss	7	7q31.3	LEP	127668566	127684917		Poitou, C.  et al. 2005	15760495				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Obesity surgery. 2005 Jan;15(1):23-Nov	Relationship between single nucleotide polymorphisms in leptin, IL6 and adiponectin genes and their circulating product in morbidly obese subjects before and after gastric banding surgery.		164160	25178	2	2005	 We observed that the SNPs studied could modulate the concentration of adiposity signals not only at baseline but also during weight loss. Such variations may be sensed by the homeostatic feedback system that controls energy balance and may in turn contribute to some disturbances in weight regulation.	Cohort 65 obese patients undergoing gastric banding surgery 										
129584		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Comings, D. E.  et al. 2003	12712467				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		164160	27070	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
129585		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	7	7q31.3	LEP	127668566	127684917		Watanabe, I.  et al. 2003	12732844				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Japanese	Japan	CDC GDPinfo	3952	Hs.194236			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		164160	28596	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
129579		obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Mattevi, V. S.  et al. 2002	12187394				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Caucasian	Brazil	CDC GDPinfo	3952	Hs.194236			International journal of obesity and related metabolic disorders. 2002 Sep;26(9):1179-85	Association analysis of genes involved in the leptin-signaling pathway with obesity in Brazil		164160	18011	2	2002	 Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.	Cohort 183/153 women (n=183) and men (n=153) 	smoking (tobacco)									
129580		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Paracchini, V.  et al. 2005	15972940				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			American journal of epidemiology. 2005 Jul;162(2):101-14	Genetics of leptin and obesity: a HuGE review.		164160	18013	2	2005												
129581		lymphoma; obesity, localized	CANCER	CAN	Lymphoma, Non-Hodgkin|Obesity	7	7q31.3	LEP	127668566	127684917		Willett, E. V.  et al. 2005	16160698				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			British journal of cancer. 2005 Oct;93(7):811-6	Non-Hodgkin's lymphoma, obesity and energy homeostasis polymorphisms.		164160	22742	2	2005												
129582		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	7	7q31.3	LEP	127668566	127684917		Meirhaeghe, A.  et al. 2005	15978856				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1		France	CDC GDPinfo	3952	Hs.194236			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):293-9	Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.		164160	22743	2	2005												
129576	Y	leptin; fat mass	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Le Stunff, C.  et al. 2000	11118025			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Diabetes. 2000 Dec;49(12):2196-200	A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls.		164160	18008	2	2000	Girls with the -/- Lep -2,549 genotype have 25% lower mean leptin levels than the girls with other genotypes, as reflected by differences in the regression slopes of leptin-to-fat mass. Therefore, genetic factors related to the leptin gene may be important in defining the set point of obese individuals (i.e., the circulating leptin level for a given degree of body fatness). This definition may be of both physiological and therapeutic relevance, although a phenotypic association with an individual single-nucleotide polymorphism is not sufficient to assign function to this particular nucleotide site.	Cohort two independent Caucasian cohorts of obese girls 										
129577	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity, Morbid	7	7q31.3	LEP	127668566	127684917		Ohshiro, Y.  et al. 2000	11140377				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Japanese	Japan	CDC GDPinfo	3952	Hs.194236			Journal of molecular medicine (Berlin, Germany). 2000 ;78(9):516-20	A polymorphic marker in the leptin gene associated with Japanese morbid obesity.		164160	18009	2	2000	The leptin polymorphism 25CAG appears to be a new genetic marker for obesity susceptibility, at least in Japanese.	Control:132 nonobese control subjects;Case:53 morbidly obese Japanese (maximum body mass index 35-60) including 46 with type 2 diabetes.										
129578		menarche	AGING	AGE	Obesity	7	7q31.3	LEP	127668566	127684917		Comings, D. E.  et al. 2001	11461187				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Molecular genetics and metabolism. 2001 Jul;73(3):204-10	The LEP gene and age of menarche: maternal age as apotential cause of hidden stratification in association studies.		164160	18010	2	2001	There was a significant (P or =30 years. If maternal age effects prove to be generalized, failure to take them into consideration could provide a source of hidden stratification that could significantly alter the replication of association studies.	Cohort 183 non-Hispanic Caucasian adult females 										
129572		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q31.3	LEP	127668566	127684917		Muy-Rivera, M.  et al. 2004	15544427				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Physiological research. 2005 ;54(2):167-74	Leptin, soluble leptin receptor and leptin gene polymorphism in relation to preeclampsia risk.		164160	12150	2	2004	Larger studies would be needed to confirm and further clarify the relations between functional variants in the leptin gene and preeclampsia risk.	Control:39:controls;Case:40 preeclamsia cases										
129574		cardiovascular disease; leptin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension|Diabetes Mellitus|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Porreca, E.  et al. 2005	16261186				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			International journal of obesity (2005). 2006 Feb;30(2):209-13	Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease.		164160	12154	2	2005												
129575		obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Nieters, A.  et al. 2002	12395215				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		164160	14603	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
129569	Y	diabetes, type 2; insulin; leptin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7q31.3	LEP	127668566	127684917		Ren, W.  et al. 2004	15109449			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Chinese		CDC GDPinfo	3952	Hs.194236			Chinese medical journal. 2004 Apr;117(4):558-61	Polymorphism of the leptin gene promoter in pedigrees of type 2 diabetes mellitus in Chongqing, China.		164160	12147	2	2004	 The C-2549-A polymorphism in the leptin gene is associated with fasting leptin in patients with type 2 diabetes. The distribution of the genotypes in diabetic subjects from diabetic pedigrees differs from those in normal controls. The A allele frequency in diabetic patients is higher than that in normal controls. The haplotypes defined by genotypes are different in the familial subjects.	Control:135/85 non-diabetic first-degree relatives of the patients (n=135) and healthy controls (n=85);Case:269 patients with type 2 diabetes										
129570		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Skibola, C. F.  et al. 2004	15159310				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1		California	CDC GDPinfo	3952	Hs.194236			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):779-86	Body Mass Index, Leptin and Leptin Receptor Polymorphisms, and Non-Hodgkin Lymphoma		164160	12148	2	2004	These results suggest that genetic interactions between leptin and its receptor may promote immune dysfunction associated with obesity and NHL and that the emerging obesity epidemic is consistent with the increasing incidence of NHL in developed countries.	Case:376 non-Hodgkin's lymphoma and two major subtypes (diffuse large cell and follicular lymphoma) cases;Control:805:controls		LEP	G2548A	LEPR	Q223R			Y		non-hodgkin lymphoma
129571	Y	insulin	METABOLIC	MET	Insulin Resistance	7	7q31.3	LEP	127668566	127684917		Lakka, T. A.  et al. 2004	15161768				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Diabetes. 2004 Jun;53(6):1603-8	Leptin and Leptin Receptor Gene Polymorphisms and Changes in Glucose Homeostasis in Response to Regular Exercise in Nondiabetic Individuals: TheHERITAGE Family Study		164160	12149	2	2004	Variations in the LEP and LEPR genes are associated with the magnitude of the effects of regular exercise on glucose homeostasis in nondiabetic individuals.	Cohort 397/143 nondiabetic whites (n = 397) and blacks (n = 143) 	physical activity	LEP	A19G	LEPR	109R			Y		glucose homeostasis in response to regular exercise in nondiabetic individuals
129566	Y	leptin expression	METABOLIC	MET		7	7q31.3	LEP	127668566	127684917		Hoffstedt, J.  et al. 2002	12189581	(-2548 G/A)		promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			Horm Metab Res. 2002 Jul;34(7):355-9	A polymorphism in the leptin promoter region (-2548 G/A) influences gene expression and adipose tissue secretion of leptin.		164160	12144	2	2002	In conclusion, a common polymorphism in the promoter of the human leptin gene (-2548G/A) influences leptin expression, possibly at the transcriptional level, and therefore also adipose secretion levels of the hormone.	Cohort 39 non-obese female subjects 										
129567	Y	schizophrenia; body fat; weight gain	PSYCH	PSY	Weight Gain	7	7q31.3	LEP	127668566	127684917		Zhang, Z. J.  et al. 2003	14720418	(-2548 G/A)		promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Chinese		CDC GDPinfo	3952	Hs.194236			Zhonghua yi xue za zhi. 2003 Dec;83(24):2119-23	[Association of -2548G/A functional polymorphism in the promoter region of leptin gene with antipsychotic agent-induced weight gain]		164160	12145	2	2003	 The finding identify that the -2548G/A polymorphism in promoter region of leptin gene associated with APS-induced weight gain and abdominal fat deposition and distribution. -2548AA may be a genetic risk factor for the development of weight gain and body fat deposition in Chinese Han schizophrenic patients during APS acute treatment.	Case:128 Chinese Han untreated patients with schizophrenia;Control:38 age and gender matched healthy controls	chlorpromazine risperidone									
129568	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Ribeiro, R.  et al. 2004	15042602	(-2548 G/A)			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			The Prostate. 2004 May;59(3):268-74	Overexpressing leptin genetic polymorphism (-2548 G/A) is associated with susceptibility to prostate cancer and risk of advanced disease		164160	12146	2	2004	 According to our results we hypothesize that the polymorphism in LEP gene may be relevant to PC risk and progression, supporting the hypothesis for leptin involvement in cancer ethiopathogenesis.	Control:118 healthy controls;Case:150 prostate cancer patients										
129563	N	obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Lucantoni, R.  et al. 2000	11061506	A19G			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Italian	Italy	CDC GDPinfo	3952	Hs.194236			The Journal of clinical endocrinology and metabolism. 2000 Oct;85(10):3589-91	The A19G polymorphism in the 5' untranslated region of the human obese gene does not affect leptin levels in severely obese patients.		164160	12141	2	2000	In conclusion, the present study, performed on a large Italian obese population, does not suggest, in agreement with what already has been reported by other investigators, a significant role for the A19->G polymorphism in determining leptin values.	Case:205 obese patients [body mass index (BMI) > 36 kg/m2; 135 women and 70 men; mean age, 46.9+/-14.23 yr]:Verbania, Italy September 1998 to May 1999;Control:61 normal-weight controls (mean BMI, 21.05 kg/m2; 53 women, 8 men):Verbania, Italy September 1998 to May 1999										
129564	Y	body mass	METABOLIC	MET		7	7q31.3	LEP	127668566	127684917		McGarvey, S. T.  et al. 2002	12037648				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			International journal of obesity and related metabolic disorders. 2002 Jun;26(6):783-8	Human leptin locus (LEP) alleles and BMI in Samoans.		164160	12142	2	2002	 These findings indicate that the leptin 3'-tetranucleotide repeat is associated with high BMI in adult Samoans, with allele 226 having a low frequency in the high BMI group.	Cohort 181 unrelated Samoan participants25-55 y of age, reported that all four grandparents were Samoan, resided in American Samoa (AS) or Samoa (S) and were without diagnosed hypertension or type 2 diabetes 										
129565	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Obesity	7	7q31.3	LEP	127668566	127684917		Shintani, M.  et al. 2002	12050272				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2909-12	Leptin gene polymorphism is associated with hypertension independent of obesity.		164160	12143	2	2002	These data together with recent functional data on the direct effect of leptin on blood pressure suggest that the leptin gene and its product, leptin, are an attractive target for studies on the mechanisms of hypertension and for the development of methods for the prediction, prevention, and therapy for hypertension.	Case patients with hypertension;Control control subjects										
129559		Insulin Resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	7	7q31.3	LEP	127668566	127684917		de Silva AM 1999	10490782	Gln223Arg OB-R. Arg/Arg. pro/pro. and II/II polymorphisms			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Nauran	Micronesia	TJB	3952	Hs.194236			International journal of obesity and related metabolic disorders. 1999 Aug;23(8):816-22			164160	4243	1	1999	 Pacific Island populations exhibit a remarkably high prevalence rate of obesity and type 2 diabetes and represent a unique population for genetic studies of obesity. In the present study we have revealed that a specific combination of alleles in OB and OB-R, two candidate genes for obesity, may confer an increased risk for the development of insulin resistance in Nauruan males.											
129560	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity, Morbid	7	7q31.3	LEP	127668566	127684917		Ohshiro Y et al. 2000	11140377				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Japanese	Japan	KGB	3952	Hs.194236			Journal of molecular medicine (Berlin, Germany). 2000 ;78(9):516-20	A polymorphic marker in the leptin gene associated with Japanese morbid obesity.		164160	4244	1	2000	The leptin polymorphism 25CAG appears to be a new genetic marker for obesity susceptibility, at least in Japanese.	Control:132 nonobese control subjects;Case:53 morbidly obese Japanese (maximum body mass index 35-60) including 46 with type 2 diabetes.										
129561	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	7	7q31.3	LEP	127668566	127684917		Niki T et al. 1996	8621021				leptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Japanese	India|Japan	KGB	3952	Hs.194236			Diabetes. 1996 May;45(5):675-8	Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity.		164160	4245	1	1996												
129562		obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Comings DE et al. 1996	9118359				leptin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			Molecular psychiatry. 1996 Sep;1(4):325-35	Genetic variants of the human obesity (OB) gene: association with body mass index in young women psychiatric symptoms and interaction with the dopamine D2 receptor (DRD2) gene.		164160	4246	1	1996												
129555	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Ribeiro R 2004	15042602	-2548 G/A			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			The Prostate. 2004 May;59(3):268-74	Overexpressing leptin genetic polymorphism (-2548 G/A) is associated with susceptibility to prostate cancer and risk of advanced disease.		164160	4239	1	2004	 According to our results we hypothesize that the polymorphism in LEP gene may be relevant to PC risk and progression, supporting the hypothesis for leptin involvement in cancer ethiopathogenesis.	Control:118 healthy controls;Case:150 prostate cancer patients										
129557	Y	obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Le Stunff C et al. 2000	11118025			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	obese girls		KGB	3952	Hs.194236	serum leptin and fat mass		Diabetes. 2000 Dec;49(12):2196-200	A common promoter variant of the leptin gene is associated with changes in the relationship between serum leptin and fat mass in obese girls.		164160	4241	1	2000	Girls with the -/- Lep -2,549 genotype have 25% lower mean leptin levels than the girls with other genotypes, as reflected by differences in the regression slopes of leptin-to-fat mass. Therefore, genetic factors related to the leptin gene may be important in defining the set point of obese individuals (i.e., the circulating leptin level for a given degree of body fatness). This definition may be of both physiological and therapeutic relevance, although a phenotypic association with an individual single-nucleotide polymorphism is not sufficient to assign function to this particular nucleotide site.	Cohort two independent Caucasian cohorts of obese girls										
129558	Y	obesity	METABOLIC	MET	Metabolism, Inborn Errors|Obesity	7	7q31.3	LEP	127668566	127684917		Montague CT et al. 1997	9202122				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			Nature. 1997 Jun;387(6636):903-8	Congenital leptin deficiency is associated with severe early-onset obesity in humans.		164160	4242	1	1997												
129551	Y	BMI	METABOLIC	MET		7	7q31.3	LEP	127668566	127684917		McGarvey ST 2002	12037648	226 and Leptin 3`- tetranucleotide repeat			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Samoans		TJB	3952	Hs.194236			International journal of obesity and related metabolic disorders. 2002 Jun;26(6):783-8	Human leptin locus (LEP) alleles and BMI in Samoans.		164160	4235	1	2002	 These findings indicate that the leptin 3'-tetranucleotide repeat is associated with high BMI in adult Samoans, with allele 226 having a low frequency in the high BMI group.	Cohort 181 unrelated Samoan participants25-55 y of age, reported that all four grandparents were Samoan, resided in American Samoa (AS) or Samoa (S) and were without diagnosed hypertension or type 2 diabetes										
129552	Y	age of menarche	AGING	AGE	Obesity	7	7q31.3	LEP	127668566	127684917		Comings DE et al. 2001	11461187				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			Molecular genetics and metabolism. 2001 Jul;73(3):204-10	The LEP gene and age of menarche: maternal age as a potential cause of hidden stratification in association studies.		164160	4236	1	2001	There was a significant (P or =30 years. If maternal age effects prove to be generalized, failure to take them into consideration could provide a source of hidden stratification that could significantly alter the replication of association studies.	Cohort 183 non-Hispanic Caucasian adult females										
129553	Y	overweight	OTHER	OTH	Obesity, Morbid	7	7q31.3	LEP	127668566	127684917		Mammes O et al. 2000	11281277				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			Annals of human genetics. 2000 Sep;64(Pt 5):391-4	Association of the G-2548A polymorphism in the 5' region of the LEP gene with overweight.		164160	4237	1	2000												
129554		obesity	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Mammes O et al. 1998	9519759				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			KGB	3952	Hs.194236			Diabetes. 1998 Mar;47(3):487-9	Novel polymorphisms in the 5' region of the LEP gene: association with leptin levels and response to low-calorie diet in human obesity.		164160	4238	1	1998												
129548		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	19	19p13.3	LDLR	11061131	11105490		Navarro-Lopez, F.   2002	11975906				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		606945	28536	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
129549		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	19	19p13.3	LDLR	11061131	11105490		Zee, R. Y.  et al. 2002	12082592				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		606945	28650	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129550		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Osteoarthritis|Disease Progression	13	13q14-q21	LECT1	52175399	52211948		Graessler, J.  et al. 2005	16142856	Val58Ile			Leukocyte cell derived chemotaxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007015.2		Germany	CDC GDPinfo	11061	Hs.421391			The Journal of rheumatology. 2005 Sep;32(9):1654-61	Association of chondromodulin-II Val58Ile polymorphism with radiographic joint destruction in rheumatoid arthritis.		605147	12140	2	2005	 Our data indicate that ChM-II Val58Ile polymorphism is associated with radiographic progression of joint destruction, particularly in German patients with RA negative for SE.											
129544		lung function; PAH metabolites, urinary	OTHER	OTH		19	19p13.3	LDLR	11061131	11105490		Morera, B.  et al. 2001	12189808				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Rev Biol Trop. 2001 Sep-Dec;49(4-Mar):1253-60	Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci		606945	26368	2	2001	Allele frequencies of the markers HLA-DQA1 and GYPA were found to be significantly different between the populations of Nicaragua and Costa Rica. Nevertheless, genetic distances showed that Nicaragua is close to other Hispanic-admixed populations like those from Argentina, Chile, Colombia, Costa Rica, and USA Hispanics. The loci set was assessed to be useful for paternity testing and individual identification in the Nicaraguan population residing in Costa Rica.	Cohort 100 unrelated Nicaraguans Costa Rica 										
129545		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Bertolini, S.  et al. 2004	15135251				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		606945	27533	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
129546		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	19	19p13.3	LDLR	11061131	11105490		McCarthy, J. J.  et al. 2003	14557872				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		606945	27962	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
129541		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19p13.3	LDLR	11061131	11105490		Retz, W.  et al. 2001	11702052				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Psychiatric genetics. 2001 Sep;11(3):115-22	Potential genetic markers of sporadic Alzheimer's dementia		606945	26365	2	2001	We conclude that , apart from the ApoE allele 4, other genetically regulated factors like ApoCI and the LDL receptor modulate the individual risk for Alzheimer's disease.	Case patients suffering from Alzheimer's dementia;Control non-demented psychiatric patients										
129542		cholelithiasis	METABOLIC	MET	Gallstones	19	19p13.3	LDLR	11061131	11105490		Jiang, Z. Y.  et al. 2004	15133863				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			World journal of gastroenterology. 2004 May;10(10):1508-12	Polymorphisms at cholesterol 7alpha-hydroxylase, apolipoproteins B and E and low density lipoprotein receptor genes in patients with gallbladder stone disease.		606945	26366	2	2004	 With an association analysis, it was determined that A allele of CYP7A gene and X+ allele of APOB gene might be considered as risk genes for GSD. These alleles are related with differences of serum lipids among subjects. Multiple-variable logistic regression model analysis showed that besides BMI, GSD was affected by polygenetic factors. But the mechanism for these two alleles responsible for GSD requires further investigations.	Case:105 patients with gallbladder stone disease;Control:274 control subjects										
129543		PAH metabolites, urinary	NORMALVARIATION	NV		19	19p13.3	LDLR	11061131	11105490		Smolyanitsky, A. G.  et al. 2003	14550622				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Russian		CDC GDPinfo	3949	Hs.213289			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-J(H), D17S30, ApoB and D1S80 loci in northwestern Russians		606945	26367	2	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia 										
129538		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	19	19p13.3	LDLR	11061131	11105490		Witsch-Baumgartner, M.  et al. 2004	15286151				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Journal of medical genetics. 2004 Aug;41(8):577-84	Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome		606945	25175	2	2004	 These results suggest that the efficiency of cholesterol transport from the mother to the embryo is affected by the maternal apo E genotype and extend the role of apo E and its disease associations to modulation of embryonic development and malformations.	Cohort 137 biochemically characterised patients with Smith-Lemli-Opitz syndrome and 59 of their parents 										
129539		hypertension; beta-glucuronidase; anaphylactoid purpura	CARDIOVASCULAR	CARD		19	19p13.3	LDLR	11061131	11105490		Kornienko, I. V.  et al. 2002	12165956				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Russian		CDC GDPinfo	3949	Hs.213289			Sudebno-meditsinskaia ekspertiza. 2002 May-Jun;45(3):20-3	[Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia]		606945	25176	2	2002	The frequency distribution of alleles of the studied panel of locuses in the mean statistical Russian population obtained in our study can be used in molecular genetic personality identification and in anthropological studies.	Cohort 391 donors (no relatives) from 63 regions of the Russian Federation Russia 										
129540		stroke; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Hoppe, C.  et al. 2003	14615367				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Blood. 2004 Mar;103(6):2391-6	Gene interactions and stroke risk in children with sickle cell anemia.		606945	25177	2	2003	If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.	Cohort 230 children with sickle cell anemia 										
129534	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19p13.3	LDLR	11061131	11105490		Bi, S.  et al. 2001	12901493				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Chinese	China	CDC GDPinfo	3949	Hs.213289			Chinese medical sciences journal. 2001 Jun;16(2):71-5	Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese.		606945	22740	2	2001	 A positive correlation was found between LRP gene polymorphism and AD, but not between BchE gene polymorphism and AD in Chinese AD cases.	Case:38 Chinese Alzheimer's disease cases;Control:40:controls										
129535		hepatitis C	INFECTION	INF	Hepatitis C	19	19p13.3	LDLR	11061131	11105490		Hennig, B. J.  et al. 2002	12209363				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Genes and immunity. 2002 Sep;3(6):359-67	Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection		606945	22741	2	2002	Overall, our data add to the increasing body of evidence of the involvement of host genetic factors in infectious disease and hepatitis C infection in particular. Similar studies should be conducted in other population in order to confirm, or otherwise, these findings.	Cohort 837 hepatitis C patients 	anti-viral treatment									
129537		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Miltiadous, G.  et al. 2005	15864114				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Pharmacogenetics and genomics. 2005 Apr;15(4):219-25	Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.		606945	25174	2	2005												
129531		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	19	19p13.3	LDLR	11061131	11105490		Wang, C. H.  et al. 2004	15144588				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Zhonghua yi xue za zhi. 2004 Apr;84(7):554-8	[Interaction of ApoE and LDL-R gene polymorphisms and alcohol drinking and smoking on coronary heart disease]		606945	22737	2	2004	 The carriers of epsilon 3, epsilon 4 or AvaII(+) alleles would have higher risk of suffering from CHD if they are drink alcohol or smoke heavily.	Case:146 Chinese Han coronary heart disease cases;Control:340:controls	alcohol anamnesis diet smoking (tobacco)									
129532		cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	19	19p13.3	LDLR	11061131	11105490		Lahoz, C.  et al. 2005	15931608				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Metabolism:  clinical and experimental. 2005 Jun;54(6):741-7	Baseline levels of low-density lipoprotein cholesterol and lipoprotein (a) and the AvaII polymorphism of the low-density lipoprotein receptor gene influence the response of low-density lipoprotein cholesterol to pravastatin treatment.		606945	22738	2	2005	We conclude that  baseline levels of LDL-C and lipoprotein (a) together with the Ava II polymorphism of the LDL-receptor gene have a significant influence on the LDL-C response to pravastatin treatment in patients monitored in a standard primary health care outpatient clinic setting.	Cohort 440 subjects with hypercholesterolemia (mean age, 57 years; 43% men) from 21 primary health care centers-outpatient clinics 	pravastatin									
129533		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Real, J. T.  et al. 2002	12042130				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Med Clin (Barc). 2002 May;118(18):681-5	[Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia]		606945	22739	2	2002	 In FH subjects aged over 35 years from a Southern European population, MI is associated with age, plasma TC and LDLc values, TC/HDLc ratio and the *4 genotype. In addition, MI is related with age and TC plasma levels on an independent basis.	Cohort 108 heterozygous FH subjects aged > 35 years (41 males) 										
129528		hypercholesterolemia	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Meshkov, A. N.  et al. 2004	15477777				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Kardiologiia. 2004 ;44(9):58-61	[Low density lipoprotein receptor gene mutations in patients with clinical diagnosis of familial hypercholesterolemia.]		606945	22734	2	2004	 These findings broaden knowledge on mutations responsible for development of familial hypercholesterolemia and confirm molecular heterogeneity of this disease in Russia.	Cohort unrelated pateitns with heterozygous familial hypercholesterolemia Russia 										
129529		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Fouchier, S. W.  et al. 2004	15630635				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Netherlands	CDC GDPinfo	3949	Hs.213289			Seminars in vascular medicine. 2004 Aug;4(3):259-64	Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.		606945	22735	2	2004	FDB patients, free from clinical selection bias, do show lower total and LDL-cholesterol levels and lower CAD risk compared with FH heterozygotes. However, FDB patients are still exposed to a substantially higher CAD risk compared with unaffected relatives.	Cohort individuals from a large-scale screening program for inherited hypercholesterolemia in which FH and FDB heterozygotes were diagnosed by standard molecular techniques 										
129530		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Graham, C. A.  et al. 2005	16159606				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Atherosclerosis. 2005 Oct;182(2):331-40	Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.		606945	22736	2	2005												
129525		hypertension	CARDIOVASCULAR	CARD	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Hoogendijk, C. F.  et al. 2003	12944120			promoter	Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Molecular and cellular probes. 2003 Aug;17(4):175-81	Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specificvariant in the FP2 cis-acting regulatory element.		606945	17999	2	2003	The data presented in this study raise the possibility that the -175g-->t polymorphism may have subtle effects that become clinically important within certain genetic and/or environmental contexts.	Cohort 2,303 individuals from nine different population groups 										
129526	N	cardiovascular disease; lipoprotein	CARDIOVASCULAR	CARD	Arteriosclerosis|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Koeijvoets, K. C.  et al. 2005	15823280				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Atherosclerosis. 2005 May;180(1):93-9	Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: aparent-offspring study.		606945	18004	2	2005	We could confirm that children with FH provide a better model to perform genotype-phenotype analyses. In particular, children with null alleles had significantly more elevated LDL cholesterol levels than carriers of other alleles but this was not associated with higher risk of CVD in the parents. Nonetheless, a specific LDL receptor mutation was associated with less deteriorated lipoprotein levels and a milder CVD risk.	Cohort 645 children with heterozygous familial hypercholesterolemia 										
129527		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Damgaard, D.  et al. 2005	15842735				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			BMC medical genetics [electronic resource]. 2005 Apr;6:15	Detection of large deletions in the LDL receptor gene with quantitative PCR methods.		606945	18005	2	2005	 The MLPA method was accurate, precise and at the same time effective in screening a large number of FH patients for large deletions in the LDL receptor gene.	Cohort 318 patients with familial hypercholesterolemia phenotype 										
129522		familial hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Bunn, C. F.  et al. 2002	11857755				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		New Zealand	CDC GDPinfo	3949	Hs.213289			Human mutation. 2002 Mar;19(3):311	Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.		606945	17992	2	2002	Twenty five mutations were identified in 35 patients in total. Of these, we were able to detect only 64% of mutations by SSCP even though all variants were detected by DHPLC. All patients are heterozygous for the mutations, which is consistent with the clinical phenotypes.	Case:25 familial hypercholesterolemia patients										
129523		familial hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Cefalu, A. B.  et al. 2001	12055704				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Sicily	CDC GDPinfo	3949	Hs.213289			Nutrition, metabolism, and cardiovascular diseases. 2001 Dec;11(6):394-400	Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia.		606945	17994	2	2001	 Our screening approach is not effective and, at least in our area, it is not a suitable alternative to the more expensive and time-consuming sequencing approach. However, our data suggest that it is possible to identify the molecular defect in about 10% of Sicilian patients with a clinical diagnosis of probable FH using a rapid laboratory diagnostic mutation panel. Four mutations were responsible for all of the diagnosed cases, and it could be reasonable to use this 4-mutation panel as a preliminary step before adopting a more complex laboratory approach.	Cohort 214 unrelated subjects meeting the diagnostic criteria of "probable" FH 										
129524		hypercholesterolemia	METABOLIC	MET	Coronary Disease|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Marang-van de Mheen, P. J.  et al. 2002	12473254				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Netherlands	CDC GDPinfo	3949	Hs.213289			European heart journal. 2002 Dec;23(24):1922-30	Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in The Netherlands		606945	17997	2	2002	 The cost-effectiveness ratio of FH screening is within the range requiring explicit political consideration in The Netherlands. As the costs of statin treatment are the single most important determinant of costs, policy decisions reduce to decisions on the acceptability of statin treatment for this risk group. Pending major changes in statin price, clear guidelines should be developed on how screen positive individuals should be treated, since not all of them have an elevated cholesterol level.	Cohort 2,229 screened familial hypercholesterolemia relatives 										
129519	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3	LDLR	11061131	11105490		Liu, A. P.  et al. 2003	12975003				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Chinese	China	CDC GDPinfo	3949	Hs.213289			Zhonghua liu xing bing xue za zhi. 2003 Jul;24(7):542-6	[Association between AvaII exon 13 polymorphism at the LDL receptor gene different and serum lipid levels in normotensives and essential hypertensives in Shanghai]		606945	12135	2	2003	 A significant association was found between the common variation of LDL-R gene and serum TC and LDL-C levels. (+) Allele was associated with elevated level of serum TC and LDL-C, but (-) allele was associated with a low level of serum TC and LDL-C. The frequencies of (-) allele in both group were related to serum low level TC while LDL-C was much higher than that reported in the western countries. These data indicated that genetic factors which resistant to hypercholesterolemia in Chinese people were different from those findings in West while might be one of the reasons to explain why that serum TC level in Chinese was lower than people in the western countries.	Control:109 healthy individuals;Case:319 Chinese with essential hypertension:Shanghai										
129520	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3	LDLR	11061131	11105490		Fu, Y.  et al. 2001	11317192				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Japanese	Japan	CDC GDPinfo	3949	Hs.213289			Journal of human hypertension. 2001 Feb;15(2):125-30	A common mutation of low-density lipoprotein receptor gene is associated with essential hypertension among Japanese		606945	17989	2	2001	Our results show that the C1773 mutaYt of LDLR iYcreases susceptibility to hyperteYsioY, but Yot via hypercholesterolaemia.	Case:300 essential hypertension subjects recruited from amont out-patients at Osaka University Hospital:Japan;Control:310 sex- and age-matched recruited from amont out-patients at Osaka University Hospital:Japan										
129521		cholesterol, LDL	METABOLIC	MET	Cardiovascular Diseases|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Miltiadous, G.  et al. 2001	11317361				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Greece	CDC GDPinfo	3949	Hs.213289			Human mutation. 2001 May;17(5):432-3	Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.		606945	17990	2	2001	These data will favor the development of tailed information and screening programs in Northwestern Greece for the primary prevention of cardiovascular disease in FH patients.	Cohort population sample Northwestern Greece 										
129516		cerebral infarction	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Arteriosclerosis	19	19p13.3	LDLR	11061131	11105490		Guo, Y.  et al. 2002	12048680				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Zhonghua yi xue yi chuan xue za zhi. 2002 Jun;19(3):209-12	[Relationship between the Nco I, Ava II polymorphism of low density lipoprotein receptor gene and atherosclerotic cerebral infarction]		606945	12130	2	2002	The coexistence of A(-) A(-) and N() N() can affect the concentration of lipid and lipoprotein and is in close relationship with the occurrence of ACI.	Control:113 age-matched Chinese healthy controls;Case:77 Han nationality patients with atherosclerotic cerebral infarction Liaoning province										
129517		hypercholesterolemia	METABOLIC	MET	Cardiovascular Diseases|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Castillo, S.  et al. 2002	12442279	N543H+2393del9			Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Human mutation. 2002 Dec;20(6):477	A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia:effect on plasma cholesterol levels and cardiovascular disease.		606945	12133	2	2002	This double mutant allele was founded in 10 out of	Case:458 unrelated Spanish patients with familial:hypercholesterolemia										
129518		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19p13.3	LDLR	11061131	11105490		Kolsch, H.  et al. 2003	12898587				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):128-30	Association of the C766T polymorphism of the low-density lipoprotein receptor-related protein gene with Alzheimer's disease.		606945	12134	2	2003	Our results contrast with other studies which described the C-allele to be a risk-factor for AD, but are in line with a recent publication on the effect of LRP polymorphism on longevity and on the risk for coronary artery disease. Further research on LRP polymorphisms is needed to evaluate their effects on the risk of AD, on coronary artery disease and on longevity.	Case patients with Alzheimer's disease;Control control subjects										
129513	Y	obesity	METABOLIC	MET	Obesity	19	19p13.3	LDLR	11061131	11105490		Mattevi VS et al. 2000	10914685				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Native American	Brazil	KGB	3949	Hs.213289			Human genetics. 2000 May;106(5):546-52	Association of the low-density lipoprotein receptor gene with obesity in Native American populations.		606945	4234	1	2000												
129514		lipoproteins	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Pongrapeeporn, K. U.  et al. 2000	11194026				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Thai		CDC GDPinfo	3949	Hs.213289			Journal of the Medical Association of Thailand. 2000 Nov;83 Suppl 2:S74-80	Effect of Ava II and NcoI polymorphisms at the low density lipoprotein receptor gene on plasma lipid levels in a group of Thai subjects		606945	12128	2	2000	The mean LDL-C level was slightly higher in the Ava II (+/+) genotype than the other Ava II genotypes. A gene-dosage effect was not observed for this polymorphism.	Cohort 54 normolipidemic Thai subjects 										
129515	Y	hyperlipidemia	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Liu, A.  et al. 2001	11860839				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Zhonghua liu xing bing xue za zhi. 2001 Feb;22(1):30-3	[The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia]		606945	12129	2	2001	 The frequency of (+/-) hyperlipidemia in males was higher than that in normal lipid group and the (+) allele in male hyperlipidemia was significantly more frequent seen than that in normal lipid group. These results suggested that polymorphisms of LDL-Rgene might play an independent role of risk factor for hyperlipidemia.	Case:104 marginal hyperlipidemic individuals;Case:107 hyperlipidemic individuals;Control:108 normal individuals										
129509	Y	carotid artery intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Arteriosclerosis|Hyperlipoproteinemia Type II|Xanthomatosis	19	19p13.3	LDLR	11061131	11105490	0.001	Pauciullo P 2003	14624402	IVS15-3C>A: destruction of the 3' acceptor splice site of intron 15 followed by elimination of exon 16 from the mature mRNA	This deletion produces a receptor protein with an in-frame deletion of 26 amino acid between the position A750 and I775 of the membrane spanning domain, resulting in a possibly soluble LDLR		Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Heterozygotes for Familial Hypercholesterolemia		KGB	3949	Hs.213289			Metabolism:  clinical and experimental. 2003 Nov;52(11):1433-8	Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors.		606945	4230	1	2003		Case:24; Control:58										
129510		migraine without aura	NEUROLOGICAL	NEUR	Migraine without Aura|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Mochi M 2003	12873747				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Journal of the neurological sciences. 2003 Sep;213(2-Jan):10-Jul	Investigation of an LDLR gene polymorphism (19p13.2) in susceptibility to migraine without aura.		606945	4231	1	2003												
129511		normal variation	NORMALVARIATION	NV		19	19p13.3	LDLR	11061131	11105490		Smolyanitsky AG 2003	14550622				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA~~~ HBGG~~~ D7S8~~~ GC~~~ HLA-DQA1~~~ Ig-JH~~~ D17S30~~~ ApoB and D1S80 loci in northwestern Russians.		606945	4232	1	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia										
129505	Y	hepatitis C	INFECTION	INF	Hepatitis C	19	19p13.3	LDLR	11061131	11105490		Hennig BJ et al. 2002	12209363				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Genes and immunity. 2002 Sep;3(6):359-67	Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection.		606945	4226	1	2002	Overall, our data add to the increasing body of evidence of the involvement of host genetic factors in infectious disease and hepatitis C infection in particular. Similar studies should be conducted in other population in order to confirm, or otherwise, these findings.	Cohort 837 hepatitis C patients	anti-viral treatment									
129506	Y	diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	19	19p13.3	LDLR	11061131	11105490		Wu SH et al. 1993	8099307				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Zhonghua yi xue za zhi. 1993 Jan;73(1):10-3, 60	The association of HincII/low density lipoprotein receptor (LDLR) restriction fragment length polymorphism (RFLP) with diabetes mellitus and its lipid phenotype with PCR gene amplification		606945	4227	1	1993												
129507	Y	cholesterol	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Humphries S et al. 1991	1674215				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Arteriosclerosis and thrombosis. 1991 May-Jun;11(3):509-16	Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy.		606945	4228	1	1991												
129501		cholesterol	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Boright AP et al. 1998	9747026				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Journal of human genetics. 1998 ;43(3):153-9	Association and linkage of LDLR gene variation with variation in plasma low density lipoprotein cholesterol.		606945	4222	1	1998												
129502	Y	Achilles tendon xanthomas	OTHER	OTH	Muscular Diseases|Hypercholesterolemia|Xanthomatosis	19	19p13.3	LDLR	11061131	11105490		Yamakawa K et al. 1991	1673111				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Human genetics. 1991 Mar;86(5):445-9	Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas.		606945	4223	1	1991												
129503	Y	mild familial hypercholesterolemia	OTHER	OTH	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Koivisto PV et al. 1993	8218110				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Finland	KGB	3949	Hs.213289			Arteriosclerosis and thrombosis. 1993 Nov;13(11):1680-8	Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo.		606945	4224	1	1993												
129504	Y	familial hypercholesterolemia.	OTHER	OTH	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Jensen HK et al. 1996	8829662			splice variant	Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Denmark	KGB	3949	Hs.213289			Human mutation. 1996 ;7(3):269-71	Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia.		606945	4225	1	1996												
129497	Y	familial hypercholesterolemia.	OTHER	OTH	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Yamakawa K et al. 1988	2901393				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Japan	KGB	3949	Hs.213289			Human genetics. 1988 Sep;80(1):5-Jan	TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.		606945	4218	1	1988												
129498	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19p13.3	LDLR	11061131	11105490	n	Okuizumi K et al. 1996	8773610				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	caucasian	United States|Japan	KGB	3949	Hs.213289			Annals of neurology. 1996 Aug;40(2):251-4	Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease.		606945	4219	1	1996												
129499	Y	obesity	METABOLIC	MET	Hypertension|Obesity|Body Weight	19	19p13.3	LDLR	11061131	11105490		Zee RY et al. 1995	7634533				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Clinical genetics. 1995 Mar;47(3):118-21	Association of HincII RFLP of low density lipoprotein receptor gene with obesity in essential hypertensives.		606945	4220	1	1995												
129500		plasma lipid traits	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Gudnason V et al. 1998	9553735			intron	Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Disease markers. 1998 Feb;13(4):209-20	Detection of the low density lipoprotein receptor gene PvuII intron 15 polymorphism using the polymerase chain reaction: association with plasma lipid traits in healthy men and women.		606945	4221	1	1998												
129493	Y	normal serum cholesterol levels	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Schuster H et al. 1990	1981179				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Clinical genetics. 1990 Dec;38(6):401-9	Association of DNA-haplotypes in the human LDL-receptor gene with normal serum cholesterol levels.		606945	4214	1	1990												
129494	Y	mild familial hypercholesterolaemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Sun XM et al. 1995	8589690	T-45C		promoter	Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Human molecular genetics. 1995 Nov;4(11):2125-9	A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).		606945	4215	1	1995												
129495	N	hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	19	19p13.3	LDLR	11061131	11105490	n	Jensen HK et al. 1994	7820934				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Clinical genetics. 1994 Aug;46(2):214-5	An alanine29-serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia.		606945	4216	1	1994												
129496	Y	differential plasma lipoprotein response to simvastatin	OTHER	OTH	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Couture P et al. 1998	9633944				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Canada	KGB	3949	Hs.213289			Arteriosclerosis, thrombosis, and vascular biology. 1998 Jun;18(6):1007-12	Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozygous familial hypercholesterolemia.		606945	4217	1	1998												
129489	Y	plasma lipid and apolipoprotein levels	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Haviland MB et al. 1997	9003506				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	normal variation Rochester Minn.		KGB	3949	Hs.213289			Human genetics. 1997 Jan;99(1):108-14	Association between common alleles of the low-density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochester Minnesota.		606945	4210	1	1997												
129490	Y	hypercholesterolemia of hypothyroidism	METABOLIC	MET	Hypercholesterolemia|Hypothyroidism	19	19p13.3	LDLR	11061131	11105490		Wiseman SA et al. 1993	8100826				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			The Journal of clinical endocrinology and metabolism. 1993 Jul;77(1):108-12	The magnitude of the hypercholesterolemia of hypothyroidism is associated with variation in the low density lipoprotein receptor gene.		606945	4211	1	1993												
129491	N	plasma concentrations of low density lipoproteins including LP(a)	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490	n	Klausen IC et al. 1993	8096495				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Human genetics. 1993 Mar;91(2):193-5	A PvuII polymorphism of the low density lipoprotein receptor gene is not associated with plasma concentrations of low density lipoproteins including LP(a).		606945	4212	1	1993												
129492	Y	obesity	METABOLIC	MET	Hypertension|Obesity|Thinness	19	19p13.3	LDLR	11061131	11105490		Zee RY et al. 1992	1361731				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Biochemical and biophysical research communications. 1992 Dec;189(2):965-71	Marked association of a RFLP for the low density lipoprotein receptor gene with obesity in essential hypertensives.		606945	4213	1	1992												
129485		glucose; lactose intolerance	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Ridefelt, P.  et al. 2005	16109658				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2		Sweden	CDC GDPinfo	3938	Hs.551506			Scandinavian journal of gastroenterology. 2005 Jul;40(7):822-6	Lactose intolerance: lactose tolerance test versusgenotyping.		603202	17988	2	2005	 Genotyping could replace lactose challenge as a first-stage screening test in adults of European descent, but should be used together with tolerance tests in children and patients where secondary lactose intolerance is suspected.											
129486	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	11	11p15.4	LDHA	18372686	18385969		Philibert, R. A.  et al. 2003	12555229				Lactate dehydrogenase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005566.1			CDC GDPinfo	3939	Hs.2795			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):7-Nov	Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder.		150000	12127	2	2003	Given the pivotal role of LDH in the metabolism of lactate, a known inducer of panic attacks, and the dependence of LDH activity on cell pH, we suggest that LDHA polymorphisms may contribute to the variability to CO(2) respiratory challenge.	Control:182 random newborn controls;Case:25 panic disorder patients										
129487		HDL Cholesterol	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Knoblauch H 2002	12023990				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	German		TJB	3949	Hs.213289			Human molecular genetics. 2002 Jun;11(12):1477-85			606945	4208	1	2002												
129481	Y	bone fractures	METABOLIC	MET	Lactose Intolerance|Wrist Injuries|Hip Fractures	2	2q21	LCT	136261884	136311220		Enattah, N. S.  et al. 2005	15667380				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2		Finland	CDC GDPinfo	3938	Hs.551506			Journal of the American Geriatrics Society. 2005 Jan;53(1):79-82	Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age.		603202	17984	2	2005	 The C/C(-13910) genotype associated with primary LM could represent a genetic risk factor for bone fractures for elderly people.	Cohort 483 people aged 85 and older (106 men and 377 women) born before April 1, 1906 Vantaa, Finland 										
129482		lactase non-persistence	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Hogenauer, C.  et al. 2005	15716664				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			European journal of gastroenterology & hepatology. 2005 Mar;17(3):371-6	Evaluation of a new DNA test compared with the lactose hydrogen breath test for the diagnosis of lactase non-persistence.		603202	17985	2	2005	 An excellent correlation is observed between a CC genotype and a positive H2 test, whereas the correlation between a TC or TT genotype and a negative H2 test result is less strong. Analysis of the -13910 T/C variant can be considered a good test for predicting the presence of lactase non-persistence in a patient population with suspected lactose malabsorption.	Cohort 123 consecutive patients with suspected lactose malabsorption 										
129483	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q21	LCT	136261884	136311220		Rasinpera, H.  et al. 2005	15831909				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	Finnish	Finland|Great Britain|Spain	CDC GDPinfo	3938	Hs.551506			Gut. 2005 May;54(5):643-7	The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.		603202	17986	2	2005	 Low lactase enzyme activity, defined by genotyping of the C/T(-13910) variant, may increase the risk of colorectal cancer. Further studies are warranted to investigate the role of milk and other dairy products in the pathogenesis of colon cancer in different populations.	Case:2,766 subjects, including 963 Finnish, 283 British, and 163 Spanish subjects with colorectal cancer;Control:773/363/221 controls (Finnish n=773, British n=363, Spanish:n=221)										
129478	Y	bone density; calcium; fractures, nonvertebral; milk intolerance	METABOLIC	MET	Lactose Intolerance|Fractures, Bone|Genetic Predisposition to Disease	2	2q21	LCT	136261884	136311220		Obermayer-Pietsch, B. M.  et al. 2004	14753735				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			Journal of bone and mineral research. 2004 Jan;19(1):42-7	Genetic predisposition for adult lactose intolerance and relation to diet, bone density, and bone fractures.		603202	17981	2	2004	 The LCT(T/C-13910) polymorphism is associated with subjective milk intolerance, reduced milk calcium intake, and reduced BMD at the hip and the lumbar spine and may predispose to bone fractures. Genetic testing for lactase deficiency may complement indirect methods in the detection of individuals at risk for both lactose malabsorption and osteoporosis.	Cohort 258 postmenopausal women 										
129479		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus	2	2q21	LCT	136261884	136311220		Enattah, N. S.  et al. 2004	15054412				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	Finnish	Finland	CDC GDPinfo	3938	Hs.551506			European journal of clinical nutrition. 2004 Sep;58(9):1319-22	The genetic variant of lactase persistence C (-13910) T as a risk factor for type I and II diabetes in the Finnish population.		603202	17982	2	2004	 We conclude that the C (-13910) T polymorphism associated with lifelong LP is not a risk factor for type I or type II diabetes in the Finnish population.	Case:1,455/615 patients with type 1 (n=1,455) and type 2 diabetes:(n=615):Finland;Control:446 nondiabetic controls										
129480		hypolactasia	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Rasinpera, H.  et al. 2004	15479673				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2		Finland	CDC GDPinfo	3938	Hs.551506			Gut. 2004 Nov;53(11):1571-6	A genetic test which can be used to diagnose adult-type hypolactasia in children.		603202	17983	2	2004	 Genetic test of C/T(-13910) polymorphism can be used as a first stage screening test for adult-type hypolactasia.	Cohort 329 children and adolescents of African, Finnish, and other White origins aged 0.1-20 years undergoing upper gastrointestinal endoscopy because of abdominal complaints 										
129474		lactase persistence	METABOLIC	MET		2	2q21	LCT	136261884	136311220		Mulcare, C. A.  et al. 2004	15106124	( -13910)			Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			American journal of human genetics. 2004 Jun;74(6):1102-10	The T Allele of a Single-Nucleotide Polymorphism 13.9 kb Upstream of the Lactase Gene (LCT) (C-13.9kbT) Does Not Predict or Cause the Lactase-Persistence Phenotype in Africans		603202	12125	2	2004	We conclude that  the C-13.9kbT polymorphism is not a predictor of lactase persistence in sub-Saharan Africans. We also present Y-chromosome data that are consistent with previously reported evidence for a back-migration event into Cameroon, and we comment on the implications for the introgression of the -13.9kb*T allele.	Cohort 1,671 individuals from 20 distinct cultural groups in seven African countries Africa 										
129476	Y	hypolactasia, adult-type	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Enattah, N. S.  et al. 2002	11788828				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2		Finland	CDC GDPinfo	3938	Hs.551506			Nature genetics. 2002 Feb;30(2):233-7	Identification of a variant associated with adult-type hypolactasia.		603202	17979	2	2002	Prevalence of the C/T-13910 variant in 1,047 DNA samples is consistent with the reported prevalence of adult-type hypolactasia in four different populations. That the variant (C/T-13910) occurs in distantly related populations indicates that it is very old.	Cohort 236 individuals from 4 differnet populations 										
129477	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Lactose Intolerance	2	2q21	LCT	136261884	136311220		Buning, C.  et al. 2003	12795467				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			Scandinavian journal of gastroenterology. 2003 May;38(5):538-42	The C/C(-13910) and G/G(-22018) genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease.		603202	17980	2	2003	 The C/C(-13910) and G/G(-22018) genotype of adult-type hypolactasia is not associated with susceptibility to the pathogenesis of Crohn disease and ulcerative colitis.	Control:120/187 healthy first-degree relatives od Crohn disease patients (n=120) and healthy individuals (n=187);Case:166/63 patients with Crohn disease (n=166) and patients with ulcerative colitis (n=63)										
129471	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p34.3	LCK	32489426	32524353	n	Nervi S et al. 2002	12401726				Lymphocyte-specific protein tyrosine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005356.2		France	KGB	3932	Hs.470627			Diabetes. 2002 Nov;51(11):3326-30	No association between lck gene polymorphisms and protein level in type 1 diabetes.		153390	4206	1	2002												
129472	Y	adult-type hypolactasia	OTHER	OTH		2	2q21	LCT	136261884	136311220		Kuokkanen M et al. 2003	12692047				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			KGB	3938	Hs.551506			Gut. 2003 May;52(5):647-52	Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.		603202	4207	1	2003	 Expression of LPH mRNA in the intestinal mucosa in individuals with T(-13910) A(-22018) alleles is several times higher than that found in individuals with C(-13910), G(-22018) alleles. These findings suggest that the two SNPs, C/T(-13910) and G/A(-22018), associated with adult-type hypolactasia, are associated with the transcriptional regulation of the LPH gene. The presence of the T(-13910) A(-22018) allele also shows significant elevation of the L/S ratio.	Cohort 52 patients with abdominal complaints										
129473		hypolactasia	OTHER	OTH		2	2q21	LCT	136261884	136311220		Kuokkanen, M.  et al. 2003	12692047				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			Gut. 2003 May;52(5):647-52	Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.		603202	12124	2	2003	 Expression of LPH mRNA in the intestinal mucosa in individuals with T(-13910) A(-22018) alleles is several times higher than that found in individuals with C(-13910), G(-22018) alleles. These findings suggest that the two SNPs, C/T(-13910) and G/A(-22018), associated with adult-type hypolactasia, are associated with the transcriptional regulation of the LPH gene. The presence of the T(-13910) A(-22018) allele also shows significant elevation of the L/S ratio.	Cohort 52 patients with abdominal complaints 										
129467		hypoalphalipoproteinemia	METABOLIC	MET	Tangier Disease|Coronary Artery Disease|Hyperlipoproteinemia Type II	16	16q22.1	LCAT	66531287	66535516		Pisciotta, L.  et al. 2005	16115486				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDPinfo	3931	Hs.387239			Atherosclerosis. 2005 Sep;182(1):153-9	Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.		606967	17978	2	2005												
129468		cholesterol, HDL	METABOLIC	MET		16	16q22.1	LCAT	66531287	66535516		Cohen, J. C.  et al. 2004	15297675				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDPinfo	3931	Hs.387239			Science. 2004 Aug;305(5685):869-72	Multiple rare alleles contribute to low plasma levels of HDL cholesterol		606967	25170	2	2004	Thus, rare alleles with major phenotypic effects contribute significantly to low plasma HDL-C levels in the general population.	Cohort individuals from a population based study 										
129469		hypoalphalipoproteinemia	METABOLIC	MET	Hypolipoproteinemias|Genetic Predisposition to Disease	16	16q22.1	LCAT	66531287	66535516		Recalde, D.  et al. 2002	12048121				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDPinfo	3931	Hs.387239			Atherosclerosis. 2002 Jul;163(1):49-58	Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase andglucocerebrosidase genes in hypoalphalipoproteinemia.		606967	25171	2	2002	Our results confirm the molecular, genetic and phenotypic heterogeneity of HALP.	Cohort 66 unrelated subjects with recurrent low HDL-C 										
129463	Y	fish eye disease	OTHER	OTH	Corneal Opacity|Lecithin Acyltransferase Deficiency|Diabetes Mellitus, Type 2	16	16q22.1	LCAT	66531287	66535516		Contacos C et al. 1996	8820100				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1		Australia	KGB	3931	Hs.387239			Journal of lipid research. 1996 Jan;37(1):35-44	A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.		606967	4204	1	1996												
129465	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q22.1	LCAT	66531287	66535516		Zhang, K.  et al. 2003	12673583				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	Chinese	China	CDC GDPinfo	3931	Hs.387239			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):135-7	[Study on the association of lecithin cholesterol acyltransferase gene polymorphisms with the lipid metabolism in coronary atherosclerotic heart disease]		606967	12121	2	2003	 608T polymorphism of LCAT gene was associated with higher plasma HDL-C level in CHD patients, while 911T/C and 1188C/T polymorphisms maybe very rare in Chinese population.	Case:203 Chinese atherosclerotic heart disease patients;Control:209 unrelated normal control individuals										
129466	Y	atherosclerosis, coronary; lipid metabolism disorders	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemias	16	16q22.1	LCAT	66531287	66535516		Zhang, K.  et al. 2004	15110745				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	Chinese		CDC GDPinfo	3931	Hs.387239			Biochemical and biophysical research communications. 2004 May;318(1):10-Apr	Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.		606967	12122	2	2004	Thus, the P143L polymorphism may play a role in causing decreased HDL-C levels, leading to increased risk of dyslipidemia and CAD in Chinese.	Case:190 Chinese coronary atherosclerotic heart disease:patients;Control:209 age- and gender-matched controls										
129459	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20q11.23-q12	LBP	36408298	36439067		Hubacek, J. A.  et al. 2002	12521224				Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2			CDC GDPinfo	3929	Hs.154078			Clinical chemistry and laboratory medicine. 2002 Nov;40(11):1097-100	Polymorphisms in the lipopolysaccharide-binding protein and bactericidal/permeability-increasing protein in patients with myocardial infarction		151990	22731	2	2002	Our findings suggest that LBP and BPI polymorphisms do not influence the risk of MI.	Control:302:controls;Case:313 myocardial infarction patients										
129461		HDL Cholesterol	METABOLIC	MET		16	16q22.1	LCAT	66531287	66535516		Knoblauch H 2002	12023990				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	German		TJB	3931	Hs.387239			Human molecular genetics. 2002 Jun;11(12):1477-85			606967	4202	1	2002												
129462	Y	dominant effect on HDL-cholesterol	OTHER	OTH		16	16q22.1	LCAT	66531287	66535516		Kasid A et al. 2001	11369005				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			KGB	3931	Hs.387239			Atherosclerosis. 2001 May;156(1):127-32	A novel TC deletion resulting in Pro(260)-->Stop in the human LCAT gene is associated with a dominant effect on HDL-cholesterol.		606967	4203	1	2001												
129456	N	Nonsurvivors of sepsis (male only)	INFECTION	INF	Gram-Negative Bacterial Infections|Sepsis|Genetic Predisposition to Disease	20	20q11.23-q12	LBP	36408298	36439067	n	Hubacek J 2001	11373419	Pro436 --> Leu			Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2	204 SS pts		KGB	3929	Hs.154078			Critical care medicine. 2001 Mar;29(3):557-61	Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific genetic predisposition to sepsis.		151990	4200	1	2001	 Our findings suggest that common polymorphisms in the gene for LBP in combination with male gender are associated with an increased risk for the development of sepsis and, furthermore, may be linked to an unfavorable outcome. These data support the important immunomodulatory role of LBP in Gram-negative sepsis and suggest that genetic testing may be helpful for the identification of patients with an unfavorable response to Gram-negative infection.	Case:204 patients diagnosed with sepsis;Control:250 healthy blood donors										
129457	Y	Nonsurvivors of sepsis (male only)	INFECTION	INF	Gram-Negative Bacterial Infections|Sepsis|Genetic Predisposition to Disease	20	20q11.23-q12	LBP	36408298	36439067	<0.02	Hubacek J 2001	11373419	Cys98 --> Gly			Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2	204 SS pts		KGB	3929	Hs.154078			Critical care medicine. 2001 Mar;29(3):557-61	Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific geneticpredisposition to sepsis.		151990	4201	1	2001	 Our findings suggest that common polymorphisms in the gene for LBP in combination with male gender are associated with an increased risk for the development of sepsis and, furthermore, may be linked to an unfavorable outcome. These data support the important immunomodulatory role of LBP in Gram-negative sepsis and suggest that genetic testing may be helpful for the identification of patients with an unfavorable response to Gram-negative infection.	Case:204 patients diagnosed with sepsis;Control:250 healthy blood donors										
129458	N	sepsis	INFECTION	INF	Sepsis|Wounds and Injuries	20	20q11.23-q12	LBP	36408298	36439067		Barber, R. C.  et al. 2003	12615620				Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2			CDC GDPinfo	3929	Hs.154078			American journal of respiratory and critical care medicine. 2003 May;167(10):1316-20	Characterization of a single nucleotide polymorphism in the lipopolysaccharide binding protein and its association with sepsis.	rs2232582	151990	12120	2	2003	In conclusion, a single nucleotide polymorphism in the lipopolysaccharide binding protein coding region that was reported to exist at the 292 position and to result in an amino acid substitution actually exists at the adjacent 291 position and does not result in an amino acid substitution. Furthermore, this polymorphism does not appear to be associated with complicated sepsis after trauma.	Cohort 151 trauma patients 										
129453		lysosomal storage disorders	METABOLIC	MET	Lysosomal Storage Diseases	13	13q34	LAMP1	112999469	113025742		Ranierri, E.  et al. 1999	11400745				Lysosomal-associated membrane protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005561.2			CDC GDPinfo	3916	Hs.494419			The Southeast Asian journal of tropical medicine and public health. 1999 ;30 Suppl 2:111-3	Pilot neonatal screening program for lysosomal storage disorders, using lamp-1.		153330	17974	2	1999	To date 11,183 infants have been screened using LAMP-1. The population distribution is described with a median and 98th percentile of 220pg/l whole blood and 483microg/l whole blood respectively. Acceptable CV% for intra and inter assay of 8.9% and 10% respectively were obtained.	Cohort 11183 infants screened as part of a prospective pilot Guthrie neonatal screening program for the identification of lysosomal storage disorders 										
129454		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	8	8q22.1	LAPTM4B	98856984	98934006		Deng, L. J.  et al. 2005	15968325				Lysosomal associated protein transmembrane 4 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018407.4			CDC GDPinfo	55353	Hs.492314			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):302-5	[Relationship between LAPTM4B gene polymorphism and susceptibility of lung cancer]			12119	2	2005	 This study suggests that the allele *2 of LAPTM4B might be the risk factor of lung cancer, which could be associated with genetic susceptibility of lung cancer.											
129455		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21.3	LARS2	45405078	45565332		t Hart, L. M.  et al. 2005	15919814				Leucyl-tRNA synthetase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015340.3			CDC GDPinfo	23395	Hs.526975			Diabetes. 2005 Jun;54(6):1892-5	Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene.		604544	17975	2	2005												
129450		maculopathy	VISION	VIS	Macular Degeneration	1	1q32	LAMB3	207854840	207892443		Hayashi, M.  et al. 2004	15370542				Laminin, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000228.2			CDC GDPinfo	3914	Hs.497636			Ophthalmic genetics. 2004 Jun;25(2):111-9	Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: geneticvariation in laminin genes and in exon 104 of HEMICENTIN-1.		150310	25169	2	2004	Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM. However, as in many instances in similar studies, involvement of rare amino acid-changing variants in a fraction of ARM cannot be ruled out.	Control matched unaffected controls;Case:368 age-related maculopathy patients										
129451		maculopathy	VISION	VIS	Macular Degeneration	1	1q31	LAMC1	181259175	181381350		Hayashi, M.  et al. 2004	15370542				Laminin, gamma 1 (formerly LAMB2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002293.2			CDC GDPinfo	3915	Hs.497039			Ophthalmic genetics. 2004 Jun;25(2):111-9	Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: geneticvariation in laminin genes and in exon 104 of HEMICENTIN-1.		150290	26364	2	2004	Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM. However, as in many instances in similar studies, involvement of rare amino acid-changing variants in a fraction of ARM cannot be ruled out.	Control matched unaffected controls;Case:368 age-related maculopathy patients										
129452		maculopathy	VISION	VIS	Macular Degeneration	1	1q25-q31	LAMC2	181422021	181480662		Hayashi, M.  et al. 2004	15370542				Laminin, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005562.1			CDC GDPinfo	3918	Hs.591484			Ophthalmic genetics. 2004 Jun;25(2):111-9	Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: geneticvariation in laminin genes and in exon 104 of HEMICENTIN-1.		150292	27069	2	2004	Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM. However, as in many instances in similar studies, involvement of rare amino acid-changing variants in a fraction of ARM cannot be ruled out.	Control matched unaffected controls;Case:368 age-related maculopathy patients										
129447		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12p13.32	LAG3	6751930	6757882		Zhang, Z.  et al. 2005	15674389				Lymphocyte-activation gene 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002286.4			CDC GDPinfo	3902	Hs.409523			Genes and immunity. 2005 Mar;6(2):145-52	Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.		153337	22730	2	2005	These results imply that germline allelic variation in genes involved in immune homeostasis-and, by extension, derangement of immune homeostasis-influence the risk of MS.	Case:672 multiple sclerosis patients;Control:672:controls										
129448	Y	tuberculoid type of leprosy	INFECTION	INF	Leprosy, Tuberculoid|Genetic Predisposition to Disease	6	6q22-q23	LAMA2	129245978	129879403		Wibawa T et al. 2002	12100448				Laminin, alpha 2 (merosin, congenital muscular dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000426.2		Indonesia	KGB	3908	Hs.200841			Tropical medicine & international health. 2002 Jul;7(7):631-6	Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients.		156225	4199	1	2002	There was no significant difference in the incidence of the polymorphisms between patients and non-patients. Remarkably, it was found that a missense mutation (T7809C) substituting valine with alanine (V2587A) was found to be more frequent in the tuberculoid type than in the lepromatous type leprosy. It is supposed that this missense mutation is one of the determinant factors in the early onset of peripheral nerve damage in Indonesian tuberculoid leprosy patients.	Case:53 leprosy patients:Indonesia;Control:58 healthy contact individuals										
129449	Y	leprosy	INFECTION	INF	Leprosy, Tuberculoid|Genetic Predisposition to Disease	6	6q22-q23	LAMA2	129245978	129879403		Wibawa, T.  et al. 2002	12100448				Laminin, alpha 2 (merosin, congenital muscular dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000426.2		Indonesia	CDC GDPinfo	3908	Hs.200841			Tropical medicine & international health. 2002 Jul;7(7):631-6	Association of a missense mutation of the laminin alpha2 gene with tuberculoid type of leprosy in Indonesian patients.		156225	17972	2	2002	There was no significant difference in the incidence of the polymorphisms between patients and non-patients. Remarkably, it was found that a missense mutation (T7809C) substituting valine with alanine (V2587A) was found to be more frequent in the tuberculoid type than in the lepromatous type leprosy. It is supposed that this missense mutation is one of the determinant factors in the early onset of peripheral nerve damage in Indonesian tuberculoid leprosy patients.	Case:53 leprosy patients:Indonesia;Control:58 healthy contact individuals										
129444	Y	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq28	L1CAM	152780580	152804778	P= 0.0168	Kurumaji A 2001	11425011	13504 C >T intron 25 / males			L1 cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000425.2			KGB	3897	Hs.522818			American journal of medical genetics. 2001 Jan;105(1):99-104	An association study between polymorphism of L1CAM gene and schizophrenia in a Japanese sample.		308840	4198	1	2001	These results suggest that the polymorphism in intron 25 plays a role in the genetic predisposition of male schizophrenia in the Japanese sample	Control:265 control subjects (121 male and 114 female);Case:267 Japanese schizophrenic patients (152 male and 115:female)										
129445		schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq28	L1CAM	152780580	152804778		Kurumaji, A.  et al. 2001	11425011				L1 cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000425.2	Japanese		CDC GDPinfo	3897	Hs.522818			American journal of medical genetics. 2001 Jan;105(1):99-104	An association study between polymorphism of L1CAM gene and schizophrenia in a Japanese sample.		308840	12118	2	2001	These results suggest that the polymorphism in intron 25 plays a role in the genetic predisposition of male schizophrenia in the Japanese sample	Control:265 control subjects (121 male and 114 female);Case:267 Japanese schizophrenic patients (152 male and 115:female)										
129446		sleep disorders; schizophrenia; body mass	OTHER	OTH		X	Xq28	L1CAM	152780580	152804778		Sekine, A.  et al. 2001	11393533				L1 cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000425.2	Japanese		CDC GDPinfo	3897	Hs.522818			Journal of human genetics. 2001 ;46(6):314-9	Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.		308840	25168	2	2001	Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.	Cohort 48 healthy Japanese volunteers 										
129439	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q21.2	KRT23	36332477	36347362	0.009	Suzuki A 2004	15081423				Keratin 23 (histone deacetylase inducible)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015515.3	Japanese	Japan	KGB	25984	Hs.9029			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		606194	6728	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
129440		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q21.2	KRT23	36332477	36347362		Suzuki, A.  et al. 2004	15081423				Keratin 23 (histone deacetylase inducible)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015515.3	Japanese	Japan	CDC GDPinfo	25984	Hs.9029			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		606194	27961	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
129441		epidermolysis bullosa simplex	OTHER	OTH	Epidermolysis Bullosa Simplex|Erythema	12	12q12-q13	KRT5	51194625	51200510		Gu LH 2003	12925204				Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000424.2			KGB	3852	Hs.433845			The Journal of investigative dermatology. 2003 Sep;121(3):482-5	A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.		148040	4197	1	2003												
129435		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRD1	10348316	10359227		Hikami, K.  et al. 2003	12618865				Killer cell lectin-like receptor subfamily D, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002262.2			CDC GDPinfo	3824	Hs.562457			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602894	25165	2	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129436	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.3	KNS2	103165277	103237641		Dhaenens, C. M.  et al. 2004	15364413				Kinesin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_005552			CDC GDPinfo	3831	Hs.20107			Neuroscience letters. 2004 Sep;368(3):290-2	Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease.		600025	22725	2	2004	No synergistic effects were found between the APOE epsilon4 allele and KNS2 gene polymorphisms.	Case:100 Alzheimer's disease brain patients;Control:103:controls										
129438	Y	cirrhosis, biliary primary	UNKNOWN	UNK		17	17q21.2	KRT19	36933394	36938160		Daimon, Y.  et al. 2003	12697249				Keratin 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ073256			CDC GDPinfo	3880	Hs.514167			Hepatology research. 2003 Mar;25(3):281-286	Novel single nucleotide polymorphisms of the cytokeratin 19 pseudogene are associated with primary biliary cirrhosis.		148020	12114	2	2003	These results suggest that those novel SNPs of the CK19 pseudogene may be associated with PBC and may prove useful for predicting susceptibility to PBC.	Control:26/36 patients with other liver diseases (n=26) and healthy volunteers (n=36);Case:36 patients with primary biliary cirrhosis										
129432	Y	rheumatic diseases	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRD1	10348316	10359227		Hikami K 2003	12618865				Killer cell lectin-like receptor subfamily D, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002262.2			KEW	3824	Hs.562457			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602894	4184	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129433	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRD1	10348316	10359227	n	Hikami K et al. 2003	12618865				Killer cell lectin-like receptor subfamily D, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002262.2	Japanese		Tsuchiya N	3824	Hs.562457			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602894	4185	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129434	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRD1	10348316	10359227	n	Hikami K et al. 2003	12618865				Killer cell lectin-like receptor subfamily D, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002262.2	Japanese		Tsuchiya N	3824	Hs.562457			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602894	4186	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129429	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC1	10489903	10498251	n	Hikami K et al. 2003	12618865				Killer cell lectin-like receptor subfamily C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002259.3	Japanese		Tsuchiya N	3821	Hs.512576			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		161555	4179	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129430	Y	rheumatic diseases	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC1	10489903	10498251		Hikami K 2003	12618865				Killer cell lectin-like receptor subfamily C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002259.3			KEW	3821	Hs.512576			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		161555	4180	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129431		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC1	10489903	10498251		Hikami, K.  et al. 2003	12618865				Killer cell lectin-like receptor subfamily C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002259.3			CDC GDPinfo	3821	Hs.512576			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		161555	17956	2	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129426		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Nam, R. K.  et al. 2003	14693733				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		176820	27959	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
129427	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	19	19q13.41	KLK7	56171540	56178962		Vasilopoulos, Y.  et al. 2004	15191543				Kallikrein 7 (chymotryptic, stratum corneum)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005046.2			CDC GDPinfo	5650	Hs.151254			The Journal of investigative dermatology. 2004 Jul;123(1):62-6	Genetic association between an AACC insertion in the 3'UTR of the stratum corneum chymotryptic enzyme gene and atopic dermatitis.		604438	17954	2	2004	These findings suggest that SCCE could have an important role in the development of atopic dermatitis.	Case:103 atopic dermatitis patients;Control:261 matched controls										
129423		prostate volume/histology endocrine patterns	AGING	AGE	Prostatic Hyperplasia	19	19q13.41	KLK3	56049982	56055832		Schatzl, G.  et al. 2002	12111704				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor, 5alpha-reductase, and PSA genes with prostate volume, clinical parameters, and endocrine status in elderly men.		176820	22723	2	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.	Cohort 190 elderly (66.5 +/- 9.2 yr) men with lower urinary tract symptoms 										
129424		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Cicek, M. S.  et al. 2005	16172228				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2173-7	Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness.		176820	25164	2	2005												
129425		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	19	19q13.41	KLK3	56049982	56055832		Roberts, R. O.  et al. 2005	16302261				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			The Prostate. 2006 Mar;66(4):392-404	Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.		176820	26363	2	2005	 Polymorphisms in HSD3B1, CYP19, AKR1C3 genes may be associated with an enlarged prostate in older men. These data provide insights into genes that should be examined further for their potential role in the pathogenesis of BPH. (c) 2005 Wiley-Liss, Inc.											
129420	Y	testosterone; prostate specific antigen	METABOLIC	MET	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Schatzl, G.  et al. 2005	15893813				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Urology. 2005 Jun;65(6):1141-5	Polymorphism in ARE-I region of prostate-specific antigen gene associated with low serum testosterone level and high-grade prostate cancer.		176820	12111	2	2005	 Our results showed that the PSA G/G genotype is associated with a greater Gleason score and serum PSA level but lower serum testosterone level and could be considered a risk factor for a poor outcome of PCa.	Cohort 134 patients with untreated, biopsy-verified prostate cancer 										
129421		prostate specific antigen	UNKNOWN	UNK	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Beebe-Dimmer, J. L.  et al. 2005	16247489			promoter	Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2	African American		CDC GDPinfo	354	Hs.171995			Prostate cancer and prostatic diseases. 2005	Polymorphisms in the prostate-specific antigen gene promoter do not predict serum prostate-specific antigen levels in African-American men.		176820	12112	2	2005												
129422		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.41	KLK3	56049982	56055832			16365023				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2	African American		CDC GDPinfo	354	Hs.171995			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2990-4	Androgen receptor and prostate-specific antigen gene polymorphisms and breast cancer in African-American women		176820	22722	2	2005			family history									
129417		prostate specific antigen	UNKNOWN	UNK		19	19q13.41	KLK3	56049982	56055832		Liu, J.  et al. 2003	14584757			promoter	Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Annals of clinical and laboratory science. 2003 ;33(4):429-34	Polymorphisms of prostate-specific antigen gene promoter: determination from cord blood collectedon filter paper.		176820	12108	2	2003	The low incidence of AA polymorphism appears to be a trait of Asians that may reduce their risk of prostate cancer.	Cohort 94 Chinese infant specimens of cord blood 										
129418		prostate cancer; prostate specific antigen	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	19	19q13.41	KLK3	56049982	56055832		Wang, L. Z.  et al. 2003	14643026				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2	Japanese	Japan	CDC GDPinfo	354	Hs.171995			Cancer letters. 2003 Dec;202(1):53-9	Polymorphisms in prostate-specific antigen (PSA) gene, risk of prostate cancer, and serum PSA levels in Japanese population.		176820	12109	2	2003	In conclusion, the PSA polymorphisms may not be associated with the risk of prostate cancer development and its disease progression and the risk of BPH in Japanese men, and may also be not related to the serum PSA level in Japanese men with prostate cancer.	Control:266:controls;Case:300/216 Japanese prostate cancer (n=300) and benign prostatic hyperplasia (n=216) cases										
129419	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Chiang, C. H.  et al. 2004	15017213				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			The Journal of urology. 2004 Apr;171(4):1529-32	The impact of polymorphism on prostate specific antigen gene on the risk, tumor volume and pathological stage of prostate cancer.		176820	12110	2	2004	 The PSA -158A/G polymorphism is associated with prostate cancer. The G allele increases the risk of prostate cancer and the GG genotype is associated with larger tumor volume and higher pathological stage.	Case:122 patients with prostate cancer;Control:84 controls with benign prostatic hyperplasia										
129414	Y	breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.41	KLK3	56049982	56055832		Yang, Q.  et al. 2002	12168876			promoter	Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Anticancer research. 2002 May-Jun;22(3):1825-8	Correlation of prostate-specific antigen promoter polymorphisms with clinicopathological characteristics in breast cancer.		176820	12105	2	2002	Our results suggest that the presence of the A-AA allele at the PSA promoter region is associated with less aggressive forms of breast cancer and could be looked on as a favorable prognostic factor.	Cohort 101 breast cancer cases 										
129415	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Gsur, A.  et al. 2002	12376473				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2		Austria	CDC GDPinfo	354	Hs.171995			Carcinogenesis. 2002 Oct;23(10):1647-51	Polymorphic CAG repeats in the androgen receptor gene, prostate-specific antigen polymorphism and prostate cancer risk		176820	12106	2	2002	Our data provide no evidence for an association between prostate cancer and CAG repeat length. However, we found a significant influence of the ARE-I PSA polymorphism on prostate cancer risk, when calculating the combination of the A/G and G/G genotypes relative to subjects with the A/A genotype (OR = 0.63; 95% CL 0.39-0.99; P = 0.048), suggesting that the G allele has a protective effect. In a case analysis according to Gleason score, the PSA G/G genotype was significantly more frequent in patients with Gleason score >7 (35.1%) than in patients with Gleason score <7 (21.5%), providing evidence that the PSA G/G genotype is associated with more advanced disease at time of diagnosis. However, the ambivalent role of the PSA during prostate carcinogenesis needs further investigation.	Case:190 newly diagnosed prostate cancer patients;Control:190 age-matched control men with benign prostatic:hyperplasia										
129416	Y	prostate specific antigen	UNKNOWN	UNK	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Cramer, S. D.  et al. 2003	12865450			promoter	Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Journal of the National Cancer Institute. 2003 Jul;95(14):1044-53	Association between genetic polymorphisms in the prostate-specific antigen gene promoter and serum prostate-specific antigen levels.		176820	12107	2	2003	 Genetic variations in the PSA promoter are associated with serum PSA levels in men without prostatic disease. PSA promoter genotype information may help to refine models of PSA cutoff values.	Cohort 409 healthy white men at risk for lung disease 										
129411		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Yang Q et al. 2001	11299734				kallikrein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			KGB	354	Hs.171995			Anticancer research. 2001 Jan-Feb;21(1A):197-200	Novel polymorphisms in prostate specific antigen gene and its association with prostate cancer.		176820	850	1	2001												
129412	Y	clinical parameters and endocrine status in elderly men	AGING	AGE	Prostatic Hyperplasia	19	19q13.41	KLK3	56049982	56055832		Schatzl G et al. 2002	12111704				kallikrein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			KGB	354	Hs.171995			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor 5alpha-reductase and PSA genes with prostate volume clinical parameters and endocrine status in elderly men.		176820	851	1	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.											
129413		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Yang, Q.  et al. 2001	11299734				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDPinfo	354	Hs.171995			Anticancer research. 2001 Jan-Feb;21(1A):197-200	Novel polymorphisms in prostate specific antigen gene and its association with prostate cancer.		176820	12104	2	2001	These results suggest that the novel polymorphisms identified in the PSA gene promoter may affect transcriptional activity of the PSA gene, and an excess of PSA production may enhance rapid progression of prostate cancer.	Control:105 population controls:Japan;Case:47 prostate cancer cases:Japan										
129407	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	19	19q13.41	KLK2	56068500	56075635		Nam, R. K.  et al. 2003	12805332				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3			CDC GDPinfo	3817	Hs.515560			Journal of clinical oncology. 2003 Jun;21(12):2312-9	Single nucleotide polymorphism of the human kallikrein-2 gene highly correlates with serum human kallikrein-2 levels and in combination enhances prostate cancer detection.		147960	12102	2	2003	 The C/T polymorphism of the KLK2 gene and circulating levels of hK2 are correlated and, in combination, are highly predictive for prostate cancer.	Cohort 1,287 consecutive men who underwent prostate biopsies because of an abnormal prostate-specific antigen level 										
129408	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK2	56068500	56075635		Chiang, C. H.  et al. 2005	15643194				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3			CDC GDPinfo	3817	Hs.515560			The Journal of urology. 2005 Feb;173(2):429-32	Human kallikrein-2 gene polymorphism is associated with the occurrence of prostate cancer.		147960	12103	2	2005	 Our results suggest that the C allele of the functional C748T polymorphism of KLK2 may increase the risk of PCa.	Control:168 controls with benign prostatic hyperplasia;Case:254 patients with prostate cancer										
129409		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.41	KLK2	56068500	56075635		Gainer, J. V.  et al. 2000	11130770				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3	African American		CDC GDPinfo	3817	Hs.515560			American journal of hypertension. 2000 Dec;13(12):1268-73	Altered frequency of a promoter polymorphism of the kinin B2 receptor gene in hypertensive African-Americans.		147960	22721	2	2000	B2 receptor promoter polymorphism may represent a susceptibility marker for essential hypertension in African-Americans.	Control:120 normotensive African-Americans;Case:77 hypertensive African-Americans										
129403		prostate breast testicular and ovarian cancers	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Testicular Neoplasms|Prostatic Neoplasms	19	19q13.3-q13.4	KLK10	56207811	56215243		Bharaj BB et al. 2002	11920956				Kallikrein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002776			KGB	5655	Hs.275464			The Prostate. 2002 Apr;51(1):35-41	Identification of single nucleotide polymorphisms in the human kallikrein 10 (KLK10) gene and their association with prostate breast testicular and ovarian cancers.		602673	5161	1	2002	 We found no evidence for somatic mutations of the KLK10 gene in cancers of the prostate, breast, ovary, and testis. The single nucleotide variation at codon 50 appears to be associated with prostate cancer risk.	Case various tumors, normal tissues and blood;Control not specified in abstract										
129405		ovarian carcinoma	CANCER	CAN	Adenocarcinoma, Clear Cell|Adenocarcinoma, Mucinous|Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Ova	19	19q13.3-q13.4	KLK11	56217298	56223102		Borgono CA 2003	12845660				Kallikrein 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006853.2			KGB	11012	Hs.57771			International journal of cancer. Journal international du cancer. 2003 Sep;106(4):605-10	Favorable prognostic value of tissue human kallikrein 11 (hK11) in patients with ovarian carcinoma.		604434	6692	1	2003												
129406		stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms	19	19q13.3-q13.4	KLK12	56224159	56230298		Shinmura, K.  et al. 2004	15300858				Kallikrein 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019598.2		Japan	CDC GDPinfo	43849	Hs.411572			Human mutation. 2004 Sep;24(3):273-4	Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity.		605539	12100	2	2004	These results indicate that individuals with the c.457+2C/C genotype have no substantial expression of hK12 serine protease.	Cohort 50 non-cancerous tissues from Japanese patients with primary gastric cancer 										
129400	Y	vesicoureteral reflux	UNKNOWN	UNK	Kidney Failure, Chronic|Vesico-Ureteral Reflux|Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	19	19q13.3	KLK1	56014215	56018855		Lee-Chen, G. J.  et al. 2004	15086490			promoter	Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2	Taiwanese		CDC GDPinfo	3816	Hs.123107			Kidney international. 2004 Apr;65(4):1467-72	Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux.		147910	14214	2	2004	 The K allele of KLK1 promoter and TT genotype of TGF-beta1 may be a genetic KLK1 -130 GN and -128 G-C, and the susceptibility factor contributing to progressive renal deterioration in Taiwanese primary VUR children.	Cohort 74 primary vesicoureteral reflux children Taiwan 										
129401	Y	hypertension; renal disease, end stage	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Hypertension	19	19q13.3	KLK1	56014215	56018855		Yu, H.  et al. 2002	11849458			promoter	Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2			CDC GDPinfo	3816	Hs.123107			Kidney international. 2002 Mar;61(3):1030-9	Association of the tissue kallikrein gene promoter with ESRD and hypertension.		147910	17952	2	2002	 The KLK1 promoter is uniquely polymorphic. The observed genetic association suggests an etiologic effect of the KLK1 promoter on hypertension and/or hypertension associated ESRD.	Case African Americans with diabetic and non-diabetic etiologies of end stage renal disease;Control:86 control subjects not otherwise specified in:abstract										
129402		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	19	19q13.3	KLK1	56014215	56018855		Iwai, N.  et al. 2004	15167446				Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2	Japanese	Japan	CDC GDPinfo	3816	Hs.123107			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		147910	28295	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
129397		hypertension; kallikrein activity, urinary	CARDIOVASCULAR	CARD		19	19q13.3	KLK1	56014215	56018855		Slim, R.  et al. 2002	11912256				Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2			CDC GDPinfo	3816	Hs.123107			Journal of the American Society of Nephrology. 2002 Apr;13(4):968-76	Loss-of-function polymorphism of the human kallikrein gene with reduced urinary kallikrein activity.		147910	12097	2	2002	No important effect was observed after Gln121 mutation, but there was a major decrease in enzyme activity when Arg53 was replaced by histidine. A model of kallikrein derived from crystallographic data suggested that Arg53 can affect substrate binding. The identification of a subset of subjects with genetically reduced kallikrein activity as a result of an amino acid mutation could facilitate analysis of the role of the kallikrein-kinin system in renal and vascular diseases.	Cohort a normotensive group and two independent hypertensive groups 										
129398		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.3	KLK1	56014215	56018855		Hua, H.  et al. 2005	15905889				Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2	Chinese		CDC GDPinfo	3816	Hs.123107			Journal of human hypertension. 2005 Sep;19(9):715-21	Relationship between the regulatory region polymorphism of human tissue kallikrein gene and essential hypertension.		147910	12098	2	2005	In conclusion, there are polymorphisms in the regulatory region of human tissue kallikrein gene in the Chinese Han people. Differences in both allele frequencies and genotype frequencies between these two groups have provided evidence towards the association of hypertension with the polymorphisms in this studied site.	Control:200 normotensive subjects;Case:200 Chinese Han hypertensive subjects										
129399		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.3	KLK1	56014215	56018855		Gainer, J. V.  et al. 2000	11130770			promoter	Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2	African American		CDC GDPinfo	3816	Hs.123107			American journal of hypertension. 2000 Dec;13(12):1268-73	Altered frequency of a promoter polymorphism of the kinin B2 receptor gene in hypertensive African-Americans.		147910	12101	2	2000	B2 receptor promoter polymorphism may represent a susceptibility marker for essential hypertension in African-Americans.	Control:120 normotensive African-Americans;Case:77 hypertensive African-Americans										
129394	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q32	KLF7	207653773	207739816		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 7 (ubiquitous)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003709.1			CDC GDPinfo	8609	Hs.471221			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		604865	28237	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129395		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	X	Xp11.21	KLF8	56275631	56328254		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007250.3			CDC GDPinfo	11279	Hs.141120			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		300286	28294	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129396	Y	hypertension	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Hypertension	19	19q13.3	KLK1	56014215	56018855		Yu H et al. 2002	11849458			promoter	Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2			KGB	3816	Hs.123107			Kidney international. 2002 Mar;61(3):1030-9	Association of the tissue kallikrein gene promoter with ESRD and hypertension.		147910	4177	1	2002	 The KLK1 promoter is uniquely polymorphic. The observed genetic association suggests an etiologic effect of the KLK1 promoter on hypertension and/or hypertension associated ESRD.	Case African Americans with diabetic and non-diabetic etiologies of end stage renal disease;Control:86 control subjects not otherwise specified in:abstract										
129391		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q22.1	KLF5	72527114	72549677		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 5 (intestinal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001730.3			CDC GDPinfo	688	Hs.508234			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		602903	28075	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129392	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10p15	KLF6	3808187	3817455		Narla, G.  et al. 2005	15735005				Kruppel-like factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008490.1			CDC GDPinfo	1316	Hs.4055			Cancer research. 2005 Feb;65(4):1213-22	A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk.		602053	12095	2	2005	Thus, these results are the first to identify a novel mechanism of self-encoded tumor suppressor gene inactivation and link a relatively common single nucleotide polymorphism to both regulation of alternative splicing and an increased risk in a major human cancer.	Cohort 3,411 men in an tri-institutional study 										
129393		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10p15	KLF6	3808187	3817455		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008490.1			CDC GDPinfo	1316	Hs.4055			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		602053	28167	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129388		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19p13.13-p13.11	KLF2	16296650	16299339		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 2 (lung)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016270.2			CDC GDPinfo	10365	Hs.107740			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		602016	27531	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129389		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p14	KLF3	38342217	38376795		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 3 (basic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016531.3			CDC GDPinfo	51274	Hs.298658			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.			27784	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129390		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9q31	KLF4	109286955	109291576		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 4 (gut)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004235.3			CDC GDPinfo	9314	Hs.376206			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		602253	27958	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129384		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q22	KLF12	73158149	73606067		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007249			CDC GDPinfo	11278	Hs.373857			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		607531	22719	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129385		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	15	15q12	KLF13	29406374	29457394		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015995.2			CDC GDPinfo	51621	Hs.525752			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		605328	25163	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129386		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q13-q21	KLF15	127544167	127558927		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014079.2			CDC GDPinfo	28999	Hs.272215			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		606465	26362	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129381		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Syndrome|Genetic Predisposition to Disease|Aging, Premature	13	13q12	KL	32488200	32538279		Low, A. F.  et al. 2005	16262891				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDPinfo	9365	Hs.524953			BMC medical genetics [electronic resource]. 2005 Oct;6:38	Aging syndrome genes and premature coronary artery disease.		604824	17946	2	2005	 Our data do not support the hypothesis that premature CAD is associated with common variants in the progeroid syndrome genes LMNA and KLOTHO.											
129382	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19p13.13-p13.12	KLF1	12856236	12859017		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 1 (erythroid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006563.2			CDC GDPinfo	10661	Hs.37860			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		600599	12094	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129383		diabetes, type 2; beta-cell function; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p25	KLF11	10101132	10112414		Neve, B.  et al. 2005	15774581				Kruppel-like factor 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003597.4		Europe	CDC GDPinfo	8462	Hs.12229			Proceedings of the National Academy of Sciences of the United States of America. 2005 Mar;102(13):4807-12	Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.		603301	17947	2	2005												
129377	Y	bone density	METABOLIC	MET		13	13q12	KL	32488200	32538279		Kawano, K.  et al. 2002	12369777				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDPinfo	9365	Hs.524953			Journal of bone and mineral research. 2002 Oct;17(10):1744-51	Klotho gene polymorphisms associated with bone density of aged postmenopausal women		604824	12091	2	2002	These results indicate that the klotho gene may be involved in the pathophysiology of bone loss with aging in humans.	Cohort 1187/215 Caucasian (n=1187) and Japanese (n=215) postmenopausal women 										
129378	Y	cholesterol, HDL; blood pressure, arterial; stroke; longevity	AGING	AGE	Cerebrovascular Accident|Cardiovascular Diseases|Genetic Predisposition to Disease	13	13q12	KL	32488200	32538279		Arking, D. E.  et al. 2005	15677572				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2		Europe, Eastern|Czech Republic	CDC GDPinfo	9365	Hs.524953			Circulation research. 2005 Mar;96(4):412-8	Association Between the Functional Variant of KLOTHO Allele and High-Density Lipoprotein Cholesterol, Blood Pressure, Stroke, and Longevity		604824	12092	2	2005	Thus, cross-sectional and prospective studies confirm a genetic model in which the KL-VS allele confers a heterozygous advantage in conjunction with a marked homozygous disadvantage for HDL-C levels, SBP, stroke, and longevity.	Cohort 216 Ashkenazi Jewish probands (age >/=95 years) Cohort 309 unrelated Ashkenazi Jewish individuals (ages 51 through 94) 										
129379		bone density; fractures; osteocalcin	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous|Genetic Predisposition to Disease	13	13q12	KL	32488200	32538279		Mullin, B. H.  et al. 2005	16151675				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2		Western Australia	CDC GDPinfo	9365	Hs.524953			Calcified tissue international. 2005 Sep;77(3):145-51	Klotho gene polymorphisms are associated with osteocalcin levels but not bone density of aged postmenopausal women.		604824	12093	2	2005												
129373	Y	bone density	METABOLIC	MET		13	13q12	KL	32488200	32538279	p < 0.0001	Kawano K 2002	12369777	promoter region (G-395A. p = 0.001) and one in exon 4 (C1818T. p = 0.010) and their haplotypes (p < 0.0001)		5`promoter	Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	white women. Japanese women		KGB	9365	Hs.524953			Journal of bone and mineral research. 2002 Oct;17(10):1744-51	Klotho gene polymorphisms associated with bone density of aged postmenopausal women		604824	6623	1	2002	These results indicate that the klotho gene may be involved in the pathophysiology of bone loss with aging in humans.	Cohort 1187/215 Caucasian (n=1187) and Japanese (n=215) postmenopausal women										
129374	Y	aging	AGING	AGE	Aging, Premature	13	13q12	KL	32488200	32538279	P < 0.0023	Arking DE 2002	11792841	We identified an allele. termed KL-VS. containing six sequence variants in complete linkage disequilibrium. two of which result in amino acid substitutions F352V and C370S. Homozygous elderly individuals were underrepresented in three distinct populations	The change at amino acid position 370 was a cysteine to serine substitution	coding sequence	Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Bohemian Czechs. Baltimore Caucasians. and Baltimore African-Americans	Baltimore|Czech Republic	KGB	9365	Hs.524953			Proceedings of the National Academy of Sciences of the United States of America. 2002 Jan;99(2):856-61	Association of human aging with a functional variant of klotho.		604824	6624	1	2002		Case:435 elderly individuals										
129375	Y	longevity	AGING	AGE	Cerebrovascular Accident|Cardiovascular Diseases|Genetic Predisposition to Disease	13	13q12	KL	32488200	32538279	0.0002	Arking DE 2005	15677572	F352V and C370S	alters klotho metabolism		Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Ashkenazi Jews	Europe, Eastern|Czech Republic	KGB	9365	Hs.524953	HDL cholesterol, blood pressure, stroke		Circulation research. 2005 Mar;96(4):412-8	Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity.		604824	6625	1	2005	Thus, cross-sectional and prospective studies confirm a genetic model in which the KL-VS allele confers a heterozygous advantage in conjunction with a marked homozygous disadvantage for HDL-C levels, SBP, stroke, and longevity.	Cohort 216 Ashkenazi Jewish probands (age >/=95 years) Cohort 309 unrelated Ashkenazi Jewish individuals (ages 51 through 94)										
129370	Y	age-related skeletal disorders	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	13	13q12	KL	32488200	32538279	0.024	Ogata N 2002	12110410	types 5 and 7		other	Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Japanese post menopausal women		KEW	9365	Hs.524953	osteoporosis		Bone. 2002 Jul;31(1):37-42	Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women.		604824	6620	1	2002	These findings indicate that the klotho gene may be a candidate for the genetic regulation of common age-related diseases like osteoporosis and spondylosis, and we provide the first evidence suggesting that this gene may be involved in the etiology of human diseases.	Cohort 377 Japanese postmenopausal women										
129371	Y	age-related skeletal disorders	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	13	13q12	KL	32488200	32538279	0.019	Ogata N 2002	12110410	Type 8		other	Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Japanese postmenopausal women		KEW	9365	Hs.524953	spondylosis		Bone. 2002 Jul;31(1):37-42	Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women.		604824	6621	1	2002	These findings indicate that the klotho gene may be a candidate for the genetic regulation of common age-related diseases like osteoporosis and spondylosis, and we provide the first evidence suggesting that this gene may be involved in the etiology of human diseases.	Cohort 377 Japanese postmenopausal women										
129372	Y	bone density and spondylosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	13	13q12	KL	32488200	32538279	p = 0.035	Ogata N 2002	12110410				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Japanese postmenopausal women		KGB	9365	Hs.524953			Bone. 2002 Jul;31(1):37-42	Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women.		604824	6622	1	2002	These findings indicate that the klotho gene may be a candidate for the genetic regulation of common age-related diseases like osteoporosis and spondylosis, and we provide the first evidence suggesting that this gene may be involved in the etiology of human diseases.	Cohort 377 Japanese postmenopausal women										
129365		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	4	4q11-q12	KIT	55218917	55301612		Goemans, B. F.  et al. 2005	16015387				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDPinfo	3815	Hs.479754			Leukemia. 2005 Sep;19(9):1536-42	Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia.		164920	22717	2	2005												
129367		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	4	4q11-q12	KIT	55218917	55301612		Schnittger, S.  et al. 2005	16076867				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDPinfo	3815	Hs.479754			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		164920	25162	2	2005												
129368	N	IgE	IMMUNE	IMM	Hypersensitivity, Immediate	12	12q22	KITLG	87410697	87498369	n	Heinzmann A Clin Exp Allergy. 2000 Nov;30(11):1555	11069563	T1148C			KIT ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003994.4			KGB	4254	Hs.1048			Clinical and experimental allergy. 2000 Nov;30(11):1555-61	Studies on linkage and association of atopy with the chromosomal region 12q13-24.		184745 		4501	1		 We conclude from our data that genes in the chromosomal region 12q13-24 and in particular SCF are unlikely to exert a major effect on the induction of the atopic phenotype in our Caucasian population. However, we did not focus on the asthmatic and thereby inflammatory aspect of atopy which might explain these results in contradiction to previous studies.											
129361		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR3DL1	59989604	60070482		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Chinese		CDC GDPinfo	3811	Hs.512572			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604946	28236	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
129362		hyperpigmentation	OTHER	OTH	Gastrointestinal Neoplasms|Hyperpigmentation	4	4q11-q12	KIT	55218917	55301612		Maeyama H et al. 2001	11208730				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			KGB	3815	Hs.479754			Gastroenterology. 2001 Jan;120(1):210-5	Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene.		164920	4175	1	2001												
129363		Mastocytosis	OTHER	OTH	Mastocytosis|Hematologic Diseases	4	4q11-q12	KIT	55218917	55301612		Nagata H1995	7479840	Asp816Val			V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1	Japanese		KGB	3815	Hs.479754			Proceedings of the National Academy of Sciences of the United States of America. 1995 Nov;92(23):10560-4			164920	4176	1	1995												
129358		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR3DL1	59989604	60070482		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDPinfo	3811	Hs.512572			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604946	27530	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
129359		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR3DL1	59989604	60070482		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDPinfo	3811	Hs.512572			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604946	27956	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
129360		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		19	19q13.4	KIR3DL1	59989604	60070482		Rajalingam, R.  et al. 2002	11904677				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Caucasian		CDC GDPinfo	3811	Hs.512572			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		604946	28073	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
129355		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	19	19q13.4	KIR2DL2	59927795	60001550		Williams, F.  et al. 2005	16112031				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDPinfo	3803	Hs.534327			Human immunology. 2005 Jul;66(7):836-41	Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.		604937	22712	2	2005												
129356		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.4	KIR2DL2	59927795	60001550		Nikitina-Zake, L.  et al. 2004	15699512				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439		Latvia	CDC GDPinfo	3803	Hs.534327			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		604937	26356	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes										
129357	Y	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	19	19q13.4	KIR3DL1	59989604	60070482		Lopez-Vazquez, A.  et al. 2005	15784466				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Zambian	Zambia	CDC GDPinfo	3811	Hs.512572			Human immunology. 2005 Mar;66(3):285-9	Interaction between KIR3DL1 and HLA-B*57 supertype alleles influences the progression of HIV-1 infection in a Zambian population.		604946	22716	2	2005	The presence of the inhibitory allele KIR3DL1 in combination with the HLA-B*57s alleles that contain the Bw4-I80 epitope, has a highly protective effect against progression to AIDS in Zambian patients.	Cohort 88 Zambian patients with HIV-1 										
129352		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DL2	59927795	60001550		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDPinfo	3803	Hs.534327			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604937	22709	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
129353		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR2DL2	59927795	60001550		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDPinfo	3803	Hs.534327			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604937	22710	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
129354	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	KIR2DL2	59927795	60001550		Moodie, S. J.  et al. 2002	12121272				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDPinfo	3803	Hs.534327			European journal of immunogenetics. 2002 Aug;29(4):287-91	Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIRand LILR gene clusters.		604937	22711	2	2002	Case-control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.	Case:132 unrelated UK Caucasian coeliac patients;Control:171 UK Caucasians										
129349	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DL2	59927795	60001550		Suzuki, Y.  et al. 2004	15140215				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439		Japan	CDC GDPinfo	3803	Hs.534327			The Journal of investigative dermatology. 2004 May;122(5):1133-6	Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris.		604937	12088	2	2004	The increase in KIR2DS1 has also been observed in psoriatic arthritis, another HLA-Cw6-associated disease (Martin et al, 2002). Accordingly, KIR2DS1 may be a common denominator of both diseases.	Control:50 healthy controls;Case:96 Japanese psoriasis vulgaris cases										
129350		celiac disease	IMMUNE	IMM		19	19q13.4	KIR2DL2	59927795	60001550		Leung, W.  et al. 2005	15879158				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDPinfo	3803	Hs.534327			Journal of immunology (Baltimore, Md :  1950). 2005 May;174(10):6540-5	Comparison of Killer Ig-Like Receptor Genotyping and Phenotyping for Selection of Allogeneic Blood Stem Cell Donors		604937	22707	2	2005	These results caution the use of genotyping alone for donor selection or leukemia-relapse prognostication because some KIRs may be expressed at a very low level.	Cohort 73 unrelated leukemia persons 										
129351		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DL2	59927795	60001550		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439	Chinese		CDC GDPinfo	3803	Hs.534327			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604937	22708	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
129346		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DL1	59927795	60001550		LUszczek, W.  et al. 2004	15310528				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218		Poland	CDC GDPinfo	3802	Hs.512572			Human immunology. 2004 Jul;65(7):758-66	Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris.		604936	22706	2	2004	This result strongly speaks for a role of KIR2DS1 on recognition of HLA-Cw6 in susceptibility to psoriasis.	Case:116 psoriasis vulgaris patients;Control:123 healthy controls										
129347		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		19	19q13.4	KIR2DL1	59927795	60001550		Rajalingam, R.  et al. 2002	11904677				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218	Caucasian		CDC GDPinfo	3802	Hs.512572			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		604936	27780	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
129348		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	19	19q13.4	KIR2DL2	59927795	60001550		Naumova, E.  et al. 2004	15248031				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439		Bulgaria	CDC GDPinfo	3803	Hs.534327			Cancer immunology, immunotherapy. 2005 Feb;54(2):172-8	Genetic polymorphism of NK receptors and their ligands in melanoma patients: prevalence ofinhibitory over activating signals.		604937	12086	2	2004	The data obtained in this study imply that there may not be a direct association between KIR gene content in the genome and the presence of malignant melanoma, or melanoma progression. However, some HLA haplotypes could be predisposing to MM in the Bulgarian population. Furthermore, distinct KIR/HLA ligand combinations may be relevant to the development of malignancy whereby inhibition overrides activation of NK cells and T cells expressing NK-associated receptors, which in turn might facilitate tumor escape and progression.	Case:50 patients with malignant melanoma (MM) in different stages of disease:Bulgaria;Control:54:controls										
129343		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR2DL1	59927795	60001550		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDPinfo	3802	Hs.512572			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604936	17942	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
129344		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DL1	59927795	60001550		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218	Chinese		CDC GDPinfo	3802	Hs.512572			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604936	17943	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
129345	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	KIR2DL1	59927795	60001550		Moodie, S. J.  et al. 2002	12121272				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDPinfo	3802	Hs.512572			European journal of immunogenetics. 2002 Aug;29(4):287-91	Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIRand LILR gene clusters.		604936	18028	2	2002	Case-control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.	Case:132 unrelated UK Caucasian coeliac patients;Control:171 UK Caucasians										
129340		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DL1	59927795	60001550		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDPinfo	3802	Hs.512572			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604936	12085	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
129341		celiac disease	IMMUNE	IMM		19	19q13.4	KIR2DL1	59927795	60001550		Leung, W.  et al. 2005	15879158				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDPinfo	3802	Hs.512572			Journal of immunology (Baltimore, Md :  1950). 2005 May;174(10):6540-5	Comparison of Killer Ig-Like Receptor Genotyping and Phenotyping for Selection of Allogeneic Blood Stem Cell Donors		604936	17935	2	2005	These results caution the use of genotyping alone for donor selection or leukemia-relapse prognostication because some KIRs may be expressed at a very low level.	Cohort 73 unrelated leukemia persons 										
129342	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	19	19q13.4	KIR2DL1	59927795	60001550		Williams, F.  et al. 2005	16112031				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDPinfo	3802	Hs.512572			Human immunology. 2005 Jul;66(7):836-41	Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.		604936	17936	2	2005												
129337		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24.1	KIF11	94342883	94405130		Ertekin-Taner, N.  et al. 2004	15024728				Kinesin family member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004523.2			CDC GDPinfo	3832	Hs.8878			Human mutation. 2004 Apr;23(4):334-42	Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease.		148760	25153	2	2004	These results provide strong evidence for pathogenic variant(s) in the 276-kb region harboring IDE that influence intermediate AD phenotypes and risk for AD.	Control:108 age-matched controls;Case:109 late-onset Alzheimer's disease cases;Case:188 late-onset Alzheimer's disease cases;Control:188 age-matched controls										
129338		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	1	1p36.2	KIF1B	10193417	10364242		Boerkoel, C. F.  et al. 2002	11835375				Kinesin family member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015074.2			CDC GDPinfo	23095	Hs.97858			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		605995	26355	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
129339		congenital fibrosis of the extraocular muscles	DEVELOPMENTAL	DEV	Ophthalmoplegia|Fibrosis	12	12q12	KIF21A	37973296	38123185		Tiab, L.  et al. 2004	15621876				Kinesin family member 21A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017641.2	Swiss, Turkish, French, and Iranian		CDC GDPinfo	55605	Hs.374201			Ophthalmic genetics. 2004 Dec;25(4):241-6	Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.		608283	17933	2	2004	 As reported, the classical c.2860C>T mutation represents a hotspot for mutation in various ethnic groups, including Swiss, Turkish, French, and Iranian patients. Sporadic cases are often due to neo-mutations as in our case. Mutation analysis is important, especially in sporadic cases, to correctly evaluate recurrence and transmission risks.	Cohort 100 individuals from various ethnic origins 										
129334	Y	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	6	6p22.3-p22.2	KIAA0319	24652310	24754362		Cope, N.  et al. 2005	15717286				KIAA0319	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014809.2			CDC GDPinfo	9856	Hs.26441			American journal of human genetics. 2005 Apr;76(4):581-91	Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.		609269	17932	2	2005	Our data strongly implicate KIAA0319 as a susceptibility gene for dyslexia. The gene product is expressed in brain, but its specific function is currently unknown.	Case:223 subjects with developmental dyslexia;Control:273:controls										
129335		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	KIF11	94342883	94405130		Feuk, L.  et al. 2005	15858821				Kinesin family member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004523.2			CDC GDPinfo	3832	Hs.8878			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):69-71	Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's disease.		148760	22705	2	2005	This study of multiple new markers in the region will facilitate further association studies in this important AD region.	Control:controls;Case Alzheimer's disease cases										
129336		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	KIF11	94342883	94405130		Prince, J. A.  et al. 2003	14517947				Kinesin family member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004523.2			CDC GDPinfo	3832	Hs.8878			Human mutation. 2003 Nov;22(5):363-71	Genetic variation in a haplotype block spanning IDE influences Alzheimer disease.		148760	25152	2	2003	These results provide substantial evidence that genetic variation within or extremely close to IDE impacts both disease risk and traits related to the severity of AD.	Case early- and late-onset AD cases from several independent sets of case-control materials;Control controls from several independent sets of case-control materials										
129331	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	4	4q11-q12	KDR	55639405	55686519		Kariyazono, H.  et al. 2004	15470196				Kinase insert domain receptor (a type III receptor tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002253.1			CDC GDPinfo	3791	Hs.479756			Pediatric research. 2004 Dec;56(6):953-9	Association of vascular endothelial growth factor (VEGF) and VEGF receptor gene polymorphisms with coronary artery lesions of Kawasaki disease.		191306	12084	2	2004	These findings suggested that VEGF and its receptor, KDR, genes contributed to the development of CAL in KD patients.	Case Japanese patients with Kawasaki disease;Control normal control subjects										
129332		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		7	7q33	KEL	142348322	142369625		Chiaroni, J.  et al. 2004	15754970				Kell blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000420.2			CDC GDPinfo	3792	Hs.368588			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		110900	26354	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
129333		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	8	8q24.2	KHDRBS3	136538897	136729030		Chen, Y. C.  et al. 2003	12921630				KH domain containing, RNA binding, signal transduction associated 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006558.1	Chinese		CDC GDPinfo	10656	Hs.444558			Zhonghua yi xue za zhi. 2003 Jul;83(13):1134-7	[Association of child absence epilepsy with T-STAR gene]		610421	17931	2	2003	 T-STAR may not be a susceptibility gene for CAE in Chinese populations.	Case:48 Han Chinese children with child absence epilepsy Northern China;Control:48 healthy children from the same area										
129327	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	20	20q13.3	KCNQ2	61502010	61503814		Chioza, B.  et al. 2002	12458027				Potassium voltage-gated channel, KQT-like subfamily, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172107			CDC GDPinfo	3785	Hs.161851			Epilepsy research. 2002 Dec;52(2):107-16	Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.		602235	25151	2	2002	Neither association remains significant after correcting for multiple testing.	Cohort a broad sample of idiopathic generalised epilepsy unselected by syndrome 										
129329		juvenile myoclonic epilepsy	OTHER	OTH	Myoclonic Epilepsy, Juvenile	8	8q24	KCNQ3	133210437	133562186		Vijai J 2003	12928862				Potassium voltage-gated channel, KQT-like subfamily, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004519.2	South Indian	India	KGB	3786	Hs.374023			Human genetics. 2003 Oct;113(5):461-3	Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population.		602232	4173	1	2003												
129330	Y	airway hyperresponsiveness	OTHER	OTH	Asthma|Respiratory Hypersensitivity|Genetic Predisposition to Disease	2	2p24	KCNS3	17922594	17977706		Hao, K.  et al. 2005	15714333				Potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002252.3			CDC GDPinfo	3790	Hs.414489			Human genetics. 2005 Apr;116(5):378-83	Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness.		603888	12083	2	2005	Our findings suggest that SNPs located at the 3' downstream region of KCNS3 have a significant role in the etiology of AHR.	Control controls from an initial screening set and a replication set;Case cases from an initial screening set and a replication set										
129324		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	1	1q21.3	KCNN3	152946536	153109378		Curtain, R.  et al. 2005	16162291				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			BMC medical genetics [electronic resource]. 2005 Sep;6:32	Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility.		602983	17923	2	2005	 This association study provides no evidence that length variations of the second polyglutamine array in the N-terminus of the KCNN3 channel exert an effect in the pathogenesis of migraine.											
129325		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378			16393881				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			The International journal of neuroscience. 2006 Feb;116(2):157-64	Schizophrenia and polymorphic cag repeats array of calcium-activated potassium channel (kcnn3) gene in serbian population		602983	17924	2	2006												
129326	N	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	1	1q21.3	KCNN3	152946536	153109378		Meira-Lima, I. V.  et al. 2001	11526470				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			Molecular psychiatry. 2001 Sep;6(5):565-9	Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3.		602983	18111	2	2001	Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.	Case:115 unrelated bipolar affective disorder patients:14 multiply affected bipolar families;Control:196 healthy control subjects										
129321	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Glatt, S. J.  et al. 2003	12898569				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):14-20	CAG-Repeat length in exon 1 of KCNN3 does not influence risk for schizophrenia or bipolar disorder: A meta-analysis of association studies		602983	17920	2	2003	The results of these meta-analyses demonstrate that the risks for both schizophrenia and bipolar disorder are largely, if not entirely, independent of CAG-repeat length in exon 1 of KCNN3. This study cannot exclude the possibility that some aspect of this polymorphism, such as repeat-length disparity in heterozygotes, influences risk for these disorders. Further, it remains unknown if this polymorphism, or one in linkage disequilibrium with it, contributes to some distinct feature of the disorder, such as symptom severity or anticipation.											
129322	Y	psychosis	PSYCH	PSY	Psychotic Disorders	1	1q21.3	KCNN3	152946536	153109378		Ritsner, M.  et al. 2003	12960745				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			Psychiatric genetics. 2003 Sep;13(3):143-50	Association study of CAG repeats in the KCNN3 gene in Israeli patients with major psychosis.		602983	17921	2	2003	 Our results support the hypothesis that a contribution of the KCNN3 gene to genetic susceptibility to major psychosis and their phenotypic polymorphism may be related to the difference of allele length rather than to the number of CAG repeats.	Case:181 Israeli Ashkenazi Jews, non-Ashkenazi Jews, and Arabs diagnosed with major psychosis;Control:207 ethnically matched controls										
129323		schizophrenia	PSYCH	PSY		1	1q21.3	KCNN3	152946536	153109378		Hong, X.  et al. 2005	16086287				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):441-3	[Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios]		602983	17922	2	2005	 In this study a lower frequency for 1137-1140 Del homozygote of KCNN3 gene was observed, and the HHRR and TDT analyses suggested that the 1137-1140 Del alleles of KCNN3 gene be unlikely to confer susceptibility to schizophrenia.											
129318		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Ujike, H.  et al. 2001	11311923				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249	Japanese		CDC GDPinfo	3782	Hs.490765			Psychiatry research. 2001 Apr;101(3):203-7	Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia, schizoaffective disorder and bipolar disorder		602983	17917	2	2001	There were no significant differences in the CAG repeat number of longer or shorter alleles among the four diagnostic groups or among the schizophrenia hebephrenic and paranoid subtypes.	Control:100 age-matched, no history of psychiatric disease:Japan;Case:265 patients with schizophrenia, schizoaffective disorder and bipolar disorder:Japan										
129319		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	1	1q21.3	KCNN3	152946536	153109378		Jin, D. K.  et al. 2001	11532529				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249	Korean	Korea	CDC GDPinfo	3782	Hs.490765			Journal of affective disorders. 2001 Sep;66(1):19-24	CAG repeats of CTG18.1 and KCNN3 in Korean patients with bipolar affective disorder.		602983	17918	2	2001	 A longer CAG repeat alleles of KCNN3 or CTG 18.1 may not be a risk factor for BPAD in Korean population and the copy number of ligation product in RED in the patients with BPAD is influenced by the longer allele of CAG/CTG of ERDA1 or CTG 18.1.	Case Korean bipolar patients;Control healthy ethnically matched controls										
129320		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Ritsner, M.  et al. 2002	12007452				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			Biological psychiatry. 2002 May;51(10):788-94	An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia.		602983	17919	2	2002	 The study supports the hypothesis that the combined effect of long CAG repeats and the differences in allele sizes contribute to symptom expression of schizophrenia, particularly on the anergia-activation-paranoid axis.	Cohort 117 unrelated Jewish schizophrenic patients 										
129315	N	schizophrenia	PSYCH	PSY	Spinocerebellar Ataxias|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Laurent, C.  et al. 2003	12497613				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			CDC GDPinfo	3782	Hs.490765			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):45-50	CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia.		602983	12079	2	2003	In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population.	Case:67/101 67 familial cases with a first-degree SZ relative, 101 sporadic cases with no affected first- or second-degree relative;Control:90:controls										
129316	Y	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	1	1q21.3	KCNN3	152946536	153109378		Koronyo-Hamaoui, M.  et al. 2004	15389773				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249		Israel	CDC GDPinfo	3782	Hs.490765			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):76-80	CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: a case-control study of femalepatients and several ethnic groups in the Israeli Jewish population.		602983	12080	2	2004	These findings further implicate KCNN3 as a significant contributor to predisposition to AN	Control:controls;Case anorexia nervosa patients:Cohort individuals from the general Israeli population of Ashkenazi, North African, Iraqi, and Yemenite:origin										
129317		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Saleem, Q.  et al. 2000	11121173				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249	Indian		CDC GDPinfo	3782	Hs.490765			American journal of medical genetics. 2000 Dec;96(6):744-8	Association analysis of CAG repeats at the KCNN3 locus in Indian patients with bipolar disorder and schizophrenia.		602983	17916	2	2000	This finding may be of functional significance as the KCNN3 protein is thought to act as a tetramer, and a large difference in allele sizes would result in an asymmetric molecule with a different number of glutamine residues in each monomer.	Case Indian patients suffering from bipolar disorder and:schizophrenia;Control ethnically matched controls										
129312	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Glatt SJ 2003	12898569				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):14-20	CAG-repeat length in exon 1 of KCNN3 does not influence risk for schizophrenia or bipolar disorder: a meta-analysis of association studies.		602983	4162	1	2003	The results of these meta-analyses demonstrate that the risks for both schizophrenia and bipolar disorder are largely, if not entirely, independent of CAG-repeat length in exon 1 of KCNN3. This study cannot exclude the possibility that some aspect of this polymorphism, such as repeat-length disparity in heterozygotes, influences risk for these disorders. Further, it remains unknown if this polymorphism, or one in linkage disequilibrium with it, contributes to some distinct feature of the disorder, such as symptom severity or anticipation.											
129313	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1q21.3	KCNN3	152946536	153109378	n	Bowen T et al. 2000	11252645				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Bipolar disorders. 2000 Dec;2(4):328-31	No evidence of association from transmission disequilibrium analysis of the hKCa3 gene in bipolar disorder.		602983	4163	1	2000	 Our data provide no support for the hypothesis that variation at the hKCa3 gene contributes to susceptibility to BPD.											
129314	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Chowdari KV et al. 2000	10889524				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Molecular psychiatry. 2000 May;5(3):237-8	Lack of association between schizophrenia and a CAG repeat polymorphism of the hSKCa3 gene in a north eastern US sample.		602983	4164	1	2000												
129309		schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Saleem Q et al. 2000	11121173	CAG repeats			Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			American journal of medical genetics. 2000 Dec;96(6):744-8	Association analysis of CAG repeats at the KCNN3 locus in Indian patients with bipolar disorder and schizophrenia.		602983	4159	1	2000	This finding may be of functional significance as the KCNN3 protein is thought to act as a tetramer, and a large difference in allele sizes would result in an asymmetric molecule with a different number of glutamine residues in each monomer.	Case Indian patients suffering from bipolar disorder and:schizophrenia;Control ethnically matched controls										
129310	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Rohrmeier T et al. 1999	10697822	CAG repeat			Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Psychiatric genetics. 1999 Dec;9(4):169-75	hSKCa3: no association of the polymorphic CAG repeat with bipolar affective disorder and schizophrenia.		602983	4160	1	1999												
129311		bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		McInnis MG et al. 1999	10395209				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Molecular psychiatry. 1999 May;4(3):217-9	Family-based association analysis of the hSKCa3 potassium channel gene in bipolar disorder.		602983	4161	1	1999												
129305	Y	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	1	1q21.3	KCNN3	152946536	153109378		Koronyo-Hamaoui M et al. 2002	11803450				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249		Israel|Europe	KGB	3782	Hs.490765			Molecular psychiatry. 2002 ;7(1):82-5	Association between anorexia nervosa and the hsKCa3 gene: a family-based and case control study.		602983	4155	1	2002												
129306	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Wittekindt O et al. 1999	10395217				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Molecular psychiatry. 1999 May;4(3):267-70	Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios.		602983	4156	1	1999												
129307	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Stober G et al. 1998	9858366				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Neuroreport. 1998 Nov;9(16):3595-9	Short CAG repeats within the hSKCa3 gene associated with schizophrenia: results of a family-based study.		602983	4157	1	1998												
129308	N	Schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Joober R 1999	10206235	CAG repeat stretches			Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			American journal of medical genetics. 1999 Apr;88(2):154-7			602983	4158	1	1999												
129302	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1q21.3	KCNN3	152946536	153109378	n	Guy CA et al. 1999	10050968				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			American journal of medical genetics. 1999 Feb;88(1):57-60	No association between a polymorphic CAG repeat in the human potassium channel gene hKCa3 and bipolar disorder.		602983	4152	1	1999	We conclude that  our data provide no support for the hypothesis that variation at the hKCa3 gene contributes to susceptibility to bipolar disorder.											
129303	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Bowen T et al. 1998	9672903				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Molecular psychiatry. 1998 May;3(3):266-9	Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia.		602983	4153	1	1998												
129304	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Imamura A et al. 2001	11807415				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249	Japanese		KGB	3782	Hs.490765			Psychiatric genetics. 2001 Dec;11(4):227-9	Lack of association between the hKCa3 gene and Japanese schizophrenia patients.		602983	4154	1	2001												
129298		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q34	KCNMB1	169737744	169749216		Kokubo, Y.  et al. 2005	15671602				Potassium large conductance calcium-activated channel, subfamily M, beta member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004137.2	Japanese	Japan	CDC GDPinfo	3779	Hs.484099			Circulation journal. 2005 Feb;69(2):138-42	Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.		603951	25147	2	2005	 The significance of the G(-930)A polymorphism of CYBA was confirmed in the present study with adequate statistical power, which strengthens the hypothesis that this polymorphism is important in the pathogenesis of hypertension and confers susceptibility.	Cohort 3,652 subjects recruited from the Suita study Japan 										
129299	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Ritsner M et al. 2002	12007452	CAG repeats			Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			Biological psychiatry. 2002 May;51(10):788-94	An association of CAG repeats at the KCNN3 locus with symptom dimensions of schizophrenia.		602983	4149	1	2002	 The study supports the hypothesis that the combined effect of long CAG repeats and the differences in allele sizes contribute to symptom expression of schizophrenia, particularly on the anergia-activation-paranoid axis.	Cohort 117 unrelated Jewish schizophrenic patients										
129300		schizophrenia	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	1	1q21.3	KCNN3	152946536	153109378		Ujike H et al. 2001	11311923				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249	Japanese		KGB	3782	Hs.490765			Psychiatry research. 2001 Apr;101(3):203-7	Association study of CAG repeats in the KCNN3 gene in Japanese patients with schizophrenia schizoaffective disorder and bipolar disorder.		602983	4150	1	2001	There were no significant differences in the CAG repeat number of longer or shorter alleles among the four diagnostic groups or among the schizophrenia hebephrenic and paranoid subtypes.	Control:100 age-matched, no history of psychiatric disease:Japan;Case:265 patients with schizophrenia, schizoaffective disorder and bipolar disorder:Japan										
129294		anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	2	2p23	KCNK3	26769122	26806209		Koronyo-Hamaoui, M.  et al. 2002	11803450				Potassium channel, subfamily K, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002246.1		Israel|Europe	CDC GDPinfo	3777	Hs.24040			Molecular psychiatry. 2002 ;7(1):82-5	Association between anorexia nervosa and the hsKCa3 gene: a family-based and case control study.		603220	17915	2	2002	Our study suggests that the longer repeat alleles of the hSKCa3 gene may contribute to the genetic susceptibility to AN.	Case anorexia nervosa patients;Control healthy controls										
129296	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	5	5q34	KCNMB1	169737744	169749216		Via, M.  et al. 2005	16155733	E65 K			Potassium large conductance calcium-activated channel, subfamily M, beta member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004137.2	Spanish		CDC GDPinfo	3779	Hs.484099			Journal of human genetics. 2005 ;50(11):604-6	E65 K polymorphism in KCNMB1 gene is not associated with ischaemic heart disease in Spanish patients.		603951	12077	2	2005												
129297		myocardial infarct; hypertension; stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Hypertension	5	5q34	KCNMB1	169737744	169749216		Senti, M.  et al. 2005	16293791	E65 K			Potassium large conductance calcium-activated channel, subfamily M, beta member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004137.2			CDC GDPinfo	3779	Hs.484099			Circulation research. 2005 Dec;97(12):1360-5	Protective Effect of the KCNMB1 E65K Genetic Polymorphism Against Diastolic Hypertension in Aging Women and Its Relevance to Cardiovascular Risk.		603951	12078	2	2005												
129291		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21-q23	KCNJ9	158317983	158325836		Wolford JK 2001	11350189				Potassium inwardly-rectifying channel, subfamily J, member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004983.2	Pima Indians		Y Wang	3765	Hs.66726			Molecular genetics and metabolism. 2001 May;73(1):97-103	Analysis of linkage disequilibrium between polymorphisms in the KCNJ9 gene with type 2 diabetes mellitus in Pima Indians.		600932	4138	1	2001	Our results indicate that variants in KCNJ9 are associated with diabetes in Pimas but do not account for the linkage of 1q with diabetes in this population.	Case:50 Pima Indians with type 2 diabetes;Control:50 Pima Indians over the age of 45 without diabetes:Cohort:51 sib pairs, discordant for type 2 diabetes										
129292		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21-q23	KCNJ9	158317983	158325836		Wolford, J. K.  et al. 2001	11350189				Potassium inwardly-rectifying channel, subfamily J, member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004983.2	Pima Indian		CDC GDPinfo	3765	Hs.66726			Molecular genetics and metabolism. 2001 May;73(1):97-103	Analysis of linkage disequilibrium between polymorphisms in the KCNJ9 gene with type 2 diabetes mellitus in Pima Indians.		600932	12075	2	2001	Our results indicate that variants in KCNJ9 are associated with diabetes in Pimas but do not account for the linkage of 1q with diabetes in this population.	Case:50 Pima Indians with type 2 diabetes;Control:50 Pima Indians over the age of 45 without diabetes:Cohort:51 sib pairs, discordant for type 2 diabetes										
129293		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	1	1q21-q23	KCNJ9	158317983	158325836		Lohoff, F. W.  et al. 2005	15911117				Potassium inwardly-rectifying channel, subfamily J, member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004983.2		Germany	CDC GDPinfo	3765	Hs.66726			Neuroscience letters. 2005 Jul;382(2-Jan):33-8	No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy.		600932	25146	2	2005	Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE.	Control:111 healthy German controls;Case:152 idiopathic generalized epilepsy patients of German:ancestry										
129288		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Barroso, I.  et al. 2003	14551916				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		600937	26345	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
129289	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	2	2q24.1	KCNJ3	155263338	155421260		Chioza, B.  et al. 2002	12458027				Potassium inwardly-rectifying channel, subfamily J, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002239.2			CDC GDPinfo	3760	Hs.591606			Epilepsy research. 2002 Dec;52(2):107-16	Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.		601534	17930	2	2002	Neither association remains significant after correcting for multiple testing.	Cohort a broad sample of idiopathic generalised epilepsy unselected by syndrome 										
129290	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	21	21q22.1	KCNJ6	37918656	38210566		Chioza, B.  et al. 2002	12458027				Potassium inwardly-rectifying channel, subfamily J, member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002240.2			CDC GDPinfo	3763	Hs.50927			Epilepsy research. 2002 Dec;52(2):107-16	Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.		600877	22695	2	2002	Neither association remains significant after correcting for multiple testing.	Cohort a broad sample of idiopathic generalised epilepsy unselected by syndrome 										
129285		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1	11	11p15.1	KCNJ11	17363371	17367440		Yamada, Y.  et al. 2001	11424233				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Japanese	Japan	CDC GDPinfo	3767	Hs.248141			Diabetes. 2001 May-Jun;17(3):213-6	Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients.		600937	22692	2	2001	 Although variations of the Kir6.2 and alpha(1D) genes are not associated with the development of common type 2 diabetes, further studies may determine the role of these genomic variations, especially those in the alpha(1D) VDCC gene, in the pathogenesis of certain subsets of type 2 diabetes, or as a co-factor in the polygenic disorder generally.	Case type 2 diabetic patients;Control normal subjects										
129286		glucose	METABOLIC	MET	Insulin Resistance|Obesity	11	11p15.1	KCNJ11	17363371	17367440		Le Fur, S.  et al. 2005	15956217				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Physiological genomics. 2005 Aug;22(3):398-401	Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese.		600937	22693	2	2005												
129287		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440			16367885				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetes, obesity & metabolism. 2006 Jan;8(1):75-82	IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do aminoacid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?		600937	22694	2	2006	 The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk. This same finding has been reported in patients with T2DM.											
129282		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Gloyn, A. L.  et al. 2001	11318841				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetic medicine. 2001 Mar;18(3):206-12	Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).		600937	22689	2	2001	 There is no support at present for mutations in either Kir6.2 or SUR1 promoter sequences contributing to Type 2 diabetes. However, the minimal promoter region of SUR1 has yet to be investigated. The E23K variant of Kir6.2 is associated with Type 2 diabetes mellitus in the UKPDS cohort.	Control:328 normoglycemic controls;Case:364 type 2 diabetics										
129283		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Gloyn, A. L.  et al. 2003	12540637				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetes. 2003 Feb;52(2):568-72	Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes		600937	22690	2	2003	Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles.	Control:1,182 population control subjects;Case:854 subjects with type 2 diabetes:UK										
129284	Y	glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	11	11p15.1	KCNJ11	17363371	17367440		van Dam, R. M.  et al. 2005	15842514				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3		Netherlands	CDC GDPinfo	3767	Hs.248141			Diabetic medicine. 2005 May;22(5):590-8	Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studiesand meta-analyses.		600937	22691	2	2005	 The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently associated with Type 2 diabetes.											
129280	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Hansen, S. K.  et al. 2005	15797964				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			The Journal of clinical endocrinology and metabolism. 2005 Jun;90(6):3629-37	Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.		600937	19049	2	2005	In conclusion, our results showed no evidence of a synergistic interaction between the KCNJ11 Glu23Lys and PPARG Pro12Ala polymorphisms but indicated that they may act in an additive manner to increase the risk of type 2 diabetes.	Case:1,164 type 2 diabetic patients;Control:4,733 middle-aged glucose tolerant subjects										
129281		glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Laukkanen, O.  et al. 2004	15579791				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Finnish		CDC GDPinfo	3767	Hs.248141			The Journal of clinical endocrinology and metabolism. 2004 Dec;89(12):6286-90	Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study.		600937	22688	2	2004	We conclude that  the polymorphisms of the SUR1 gene predicted the conversion from impaired glucose tolerance to type 2 diabetes and that the effect of these polymorphisms on diabetes risk was additive with the E23K polymorphism of the Kir6.2 gene.	Cohort 490 subjects with impaired glucose tolerance participating in the Finnish Diabetes Prevention Study 										
129276		hypoglycemia awareness	METABOLIC	MET	Diabetes Mellitus, Type 1|Hypoglycemia	11	11p15.1	KCNJ11	17363371	17367440		Holstein, A.  et al. 2005	16142506	Glu23Lys			Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Journal of human genetics. 2005 ;50(10):530-3	The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 diabetes.		600937	12073	2	2005												
129277		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440			16320083	E23K			Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetologia. 2005 Dec;48(12):2544-51	Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus		600937	12074	2	2005												
129278		diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	11	11p15.1	KCNJ11	17363371	17367440		Nielsen, E. M.  et al. 2003	12540638				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetes. 2003 Feb;52(2):573-7	The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes		600937	17913	2	2003	In conclusion, the widespread E23K polymorphism may have a diabetogenic effect by impairing glucose-induced insulin release and increasing BMI.	Cohort 519 unrelated glucose-tolerant subjects ;Case:803 type 2 diabetic patients;Control:862 glucose-tolerant control subjects										
129273	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440	n	Sakura H et al. 1996	8897013				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	white Caucasian patients	Caribbean Region	KGB	3767	Hs.248141			Diabetologia. 1996 Oct;39(10):1233-6	Sequence variations in the human Kir6.2 gene a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro.		600937	4147	1	1996												
129274	Y	hyperglycemia	OTHER	OTH	Hyperglycemia	11	11p15.1	KCNJ11	17363371	17367440		Tschritter, O.  et al. 2002	12196481	Glu23Lys			Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Diabetes. 2002 Sep;51(9):2854-60	The Prevalent Glu23Lys Polymorphism in the Potassium Inward Rectifier 6.2 (KIR6.2) Gene Is Associated With Impaired Glucagon Suppression in Response to Hyperglycemia		600937	12071	2	2002	Our findings thus confirm its functional relevance for glucose metabolism in humans.	Cohort 298/75 nondiabetic subjects using an oral glucose tolerance test (n=298) and nondiabetic subjects using a hyperglycemic clamp (10 mmol/l) with additional glucagon-like peptide (GLP)-1 and arginine stimulation (n=75) 										
129275	N	myocardial infarct	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Myocardial Infarction	11	11p15.1	KCNJ11	17363371	17367440		Jeron, A.  et al. 2004	14871556				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDPinfo	3767	Hs.248141			Journal of molecular and cellular cardiology. 2004 Feb;36(2):287-93	KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction.		600937	12072	2	2004	 In this study of AMI patients, SCD was not related to polymorphisms in the KCNJ11 gene.	Cohort 84/86 Patients who survived three or more transmyocardial infarctions without developing any ventricular arrhythmias (n = 84) and patients who died suddenly from their first myocardial infarction (n = 86) 										
129269		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Schwanstecher C 2002	11872696				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			Y Wang	3767	Hs.248141			Diabetes. 2002 Mar;51(3):875-9	K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels.		600937	4143	1	2002												
129271		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Love-Gregory L 2003	12643262				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Caucasian		Y Wang	3767	Hs.248141			Diabetologia. 2003 Jan;46(1):136-7	E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARgamma Pro12Ala variant.		600937	4145	1	2003												
129272		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Eftychi C 2004	14988278				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3		Canada|Europe	Y Wang	3767	Hs.248141			Diabetes. 2004 Mar;53(3):870-3	Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.		600937	4146	1	2004												
129266	Y	familial hyperinsulinism.	OTHER	OTH	Hyperinsulinism	11	11p15.1	KCNJ11	17363371	17367440		Nestorowicz A et al. 1997	9356020				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			KGB	3767	Hs.248141			Diabetes. 1997 Nov;46(11):1743-8	A nonsense mutation in the inward rectifier potassium channel gene Kir6.2 is associated with familial hyperinsulinism.		600937	4140	1	1997												
129267	Y	impaired glucagon suppression	OTHER	OTH	Hyperglycemia	11	11p15.1	KCNJ11	17363371	17367440		Tschritter O et al. 2002	12196481				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			KGB	3767	Hs.248141			Diabetes. 2002 Sep;51(9):2854-60	The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia.		600937	4141	1	2002	Our findings thus confirm its functional relevance for glucose metabolism in humans.	Cohort 298/75 nondiabetic subjects using an oral glucose tolerance test (n=298) and nondiabetic subjects using a hyperglycemic clamp (10 mmol/l) with additional glucagon-like peptide (GLP)-1 and arginine stimulation (n=75)										
129268	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440	n	Gloyn AL et al. 2001	11318841			promoter	Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			KGB	3767	Hs.248141			Diabetic medicine. 2001 Mar;18(3):206-12	Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).		600937	4142	1	2001	 There is no support at present for mutations in either Kir6.2 or SUR1 promoter sequences contributing to Type 2 diabetes. However, the minimal promoter region of SUR1 has yet to be investigated. The E23K variant of Kir6.2 is associated with Type 2 diabetes mellitus in the UKPDS cohort.	Control:328 normoglycemic controls;Case:364 type 2 diabetics										
129263	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	1	1q22-q23	KCNJ10	158274656	158306585		Lenzen, K. P.  et al. 2005	15725393				Potassium inwardly-rectifying channel, subfamily J, member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002241.3			CDC GDPinfo	3766	Hs.408960			Epilepsy research. 2005 Feb;63(3-Feb):113-8	Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.		602208	17911	2	2005	 Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes.	Case:563 German idiopathic generalized epilepsy patients;Control:660 healthy population controls										
129265	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440	1.5e-05	Gloyn et al Diabetes	11318841	E23K	alters function by inducing spontaneous over-activity of pancreatic beta-cells thus increasing the threshold ATP concentration for insulin release		Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	UK Caucasian		Timothy M Frayling	3767	Hs.248141			Diabetic medicine. 2001 Mar;18(3):206-12			600937	4139	1		 There is no support at present for mutations in either Kir6.2 or SUR1 promoter sequences contributing to Type 2 diabetes. However, the minimal promoter region of SUR1 has yet to be investigated. The E23K variant of Kir6.2 is associated with Type 2 diabetes mellitus in the UKPDS cohort.											
129260		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Tester, D. J.  et al. 2005	15840476				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Heart rhythm. 2005 May;2(5):507-17	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.		152427	25145	2	2005	 In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.											
129261	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q22-q23	KCNJ10	158274656	158306585		Farook, V. S.  et al. 2002	12401729				Potassium inwardly-rectifying channel, subfamily J, member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002241.3	Pima Pima Indian	Arizona	CDC GDPinfo	3766	Hs.408960			Diabetes. 2002 Nov;51(11):3342-6	Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians.		602208	17909	2	2002	We conclude that  these variants in KCNJ10 are unlikely to be the cause of linkage of type 2 diabetes with 1q in Pima Indians.	Case:149 type 2 diabetic Pima Indians;Control:150 unaffected Pimas										
129262	Y	seizures	NEUROLOGICAL	NEUR	Seizures|Genetic Predisposition to Disease	1	1q22-q23	KCNJ10	158274656	158306585		Buono, R. J.  et al. 2004	15120748				Potassium inwardly-rectifying channel, subfamily J, member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002241.3			CDC GDPinfo	3766	Hs.408960			Epilepsy research. 2004 Feb;58(3-Feb):175-83	Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.		602208	17910	2	2004	 The T allele of SNP rs#1130183 is associated with seizure resistance when common forms of focal and generalized epilepsy are analyzed as a group. These data suggest that this missense variation in KCNJ10 (or a nearby variation) is related to general seizure susceptibility in humans.	Case European ancestry patients with refractory mesial temporal lobe epilepsy, childhood absence,, juvenile myoclonic and idiopathic generalized epilepsy not otherwise specified;Control unrelated controls										
129257		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Paulussen, A. D.  et al. 2004	14760488				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of molecular medicine (Berlin, Germany). 2004 Mar;82(3):182-8	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.		152427	25142	2	2004	We conclude that  missense mutations in the examined cLQTS genes explain only a minority of aLQTS cases.	Case:32 durg-induced acquired long QT syndrome patients with confirmed torsade de pointes;Control:32 healthy individuals										
129258		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Westenskow, P.  et al. 2004	15051636				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Circulation. 2004 Apr;109(15):1834-41	Compound Mutations. A Common Cause of Severe Long-QT Syndrome		152427	25143	2	2004	 LQTS-associated compound mutations cause a severe phenotype and are more common than expected. Individuals with compound mutations need to be identified, and their management should be tailored to their increased risk for arrhythmias.	Cohort 252 Long QT syndrome probands 										
129259		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Fodstad, H.  et al. 2004	15176425				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Finnish	Finland	CDC GDPinfo	3757	Hs.438823			Annals of medicine. 2004 ;36 Suppl 1:53-63	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.		152427	25144	2	2004	 The extent of genetic homogeneity underlying LOTS in Finland is unique in the whole world, providing a major advantage for screening and presymptomatic diagnosis of LOTS, and constituting an excellent basis to study the role of genetic and non-genetic factors influencing phenotypic variability in this disease.	Cohort 188 unrelated probands with long-QT syndrome 										
129254		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Genetic Predisposition to Disease	7	7q35-q36	KCNH2	150272981	150305947		Ackerman, M. J.  et al. 2003	14661677				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2		United States	CDC GDPinfo	3757	Hs.438823			Mayo Clinic proceedings Mayo Clinic. 2003 Dec;78(12):1479-87	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibilityto sudden cardiac death and genetic testing for congenital long QT syndrome.		152427	25139	2	2003	 To our knowledge, this study represents the first comprehensive determination of the frequency and spectrum of cardiac channel variants found among healthy subjects from 4 major ethnic groups. Defining the population burden of genetic variants in these critical cardiac ion channels is crucial for proper interpretation of genetic test results of individuals at risk for LQTS. This compendium provides a resource for epidemiological and functional investigation of variant effects on the repolarization properties of cardiac tissues, including susceptibility to lethal cardiac arrhythmias.	Cohort 744 apparently healthy individuals-305 black, 187 white, 134 Asian, and 118 Hispanic 										
129255		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Pfeufer, A.  et al. 2005	15746444				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2		Germany	CDC GDPinfo	3757	Hs.438823			Circulation research. 2005 Apr;96(6):693-701	Common variants in myocardial ion channel genes modify the QT interval in the general population:results from the KORA study.		152427	25140	2	2005	These results confirm previous heritability studies indicating that repolarization is a complex trait with a significant heritable component and demonstrate that high-resolution SNP-mapping in large population samples can detect and fine map quantitative trait loci even if locus specific heritabilities are small.	Cohort 689 individuals from the population-based KORA study 										
129251		EKG, abnormal	CARDIOVASCULAR	CARD	Syncope|Heart Defects, Congenital|Death, Sudden, Cardiac|Long QT Syndrome|Heart Arrest|Genetic Predisposition to Disease	7	7q35-q36	KCNH2	150272981	150305947		Khositseth, A.  et al. 2004	15851119				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Heart rhythm. 2004 May;1(1):60-4	Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.		152427	22684	2	2004	 There is a relatively gene-specific molecular basis underlying cardiac events during the postpartum period in LQTS. Along with previous gene-specific associations involving swimming and LQT1 as well as auditory triggers and LQT2, this association between postpartum cardiac events and LQT2 can facilitate strategic genotyping.	Cohort 388 unrelated patients (260 females, average age at diagnosis, 23 years, and average QTc, 482 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing 										
129252		EKG, abnormal; Brugada syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Heart Arrest|Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Lai, L. P.  et al. 2005	16155735				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of human genetics. 2005 ;50(9):490-6	Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.		152427	22685	2	2005												
129253		EKG, abnormal	CARDIOVASCULAR	CARD		7	7q35-q36	KCNH2	150272981	150305947		Gouas, L.  et al. 2005	16132053				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			European journal of human genetics. 2005 Nov;13(11):1213-22	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.		152427	22686	2	2005												
129248		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	7	7q35-q36	KCNH2	150272981	150305947		Yang, P.  et al. 2002	11997281				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Circulation. 2002 Apr;105(16):1943-8	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes		152427	19324	2	2002	 DNA variants in the coding regions of congenital long-QT disease genes predisposing to aLQTS can be identified in approximately 10% to 15% of affected subjects, predominantly in genes encoding ancillary subunits.	Control:67 controls drawn from patients tolerating QT-prolonging drugs;Case:92 cohort of long-QT syndrome	QT-prolonging drugs									
129249	Y	EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Disease Progression	7	7q35-q36	KCNH2	150272981	150305947		Priori, S. G.  et al. 2004	15367556				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			JAMA. 2004 Sep;292(11):1341-4	Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers		152427	19328	2	2004	 Among patients with genetic LQTS treated with beta-blockers, there is a high rate of cardiac events, particularly among patients with LQT2 and LQT3 genotypes.	Cohort 335 consecutive LQTS-genotyped patients Italy 	beta blockers									
129250		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Chatrath, R.  et al. 2004	15534720				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Pediatric cardiology. 2004 Sep-Oct;25(5):459-65	Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome.		152427	19329	2	2004	In this study cohort, one-fourth of genotyped LQTS probands failed beta-blocker therapy. Treatment with atenolol, young age at diagnosis, initial presentation with ACA, KVLQT1 genotype, and noncompliance may be important factors underlying beta-blocker therapy failures.	Cohort 28 patients with symptomatic long-QT syndrome 	beta blockers									
129245		EKG, abnormal	CARDIOVASCULAR	CARD	Bradycardia|Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Lupoglazoff, J. M.  et al. 2004	14998624				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of the American College of Cardiology. 2004 Mar;43(5):826-30	Long QT syndrome in neonates: conduction disordersassociated with HERG mutations and sinus bradycardia with KCNQ1 mutations.		152427	17929	2	2004	 Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy.	Cohort 23 neonate probands with long QT syndrome 										
129247		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Allan, W. C.  et al. 2001	11743032				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of medical screening. 2001 ;8(4):173-7	Long QT syndrome in children: the value of ratecorrected QT interval and DNA analysis as screening tests in the general population.		152427	19323	2	2001	 The only available screening test for LQTS is ECG measurement. If DNA technology becomes available for screening, unit costs must be very low to be competitive. There are multiple problems with screening for LQTS: only a minority of children will be detected, cost/death avoided is high, and pilot studies would need to be in place for 5-10 years to document efficacy.	Case:117 children affected with long QT syndrom;Control:133 unaffected children										
129242		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Jongbloed, R.  et al. 2002	12402336				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Human mutation. 2002 Nov;20(5):382-91	DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.		152427	17925	2	2002	We conclude that  this method is suitable for rapid identification of LQT gene defects due to the combination of automation, high throughput, sensitivity, and short time of analysis.	Case:32 index patients diagnosed with LQTS syndrome										
129243		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Drowning	7	7q35-q36	KCNH2	150272981	150305947		Lunetta, P.  et al. 2003	12690509				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			International journal of legal medicine. 2003 Apr;117(2):115-7	Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.		152427	17926	2	2003	The detection of a LQTS founder mutation in a body found in water is a relatively rare event based on our study sample. This finding is, however, of utmost medico-legal importance, since it broadens the spectrum of potential causes and manners of death.	Cohort 165 consecutive bodies found in water Finland 										
129244		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Zareba, W.  et al. 2003	12849668				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of the American College of Cardiology. 2003 Jul;42(1):103-9	Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.		152427	17927	2	2003	Age and gender have different, genotype-specific modulating effects on the probability of cardiac events and electrocardiographic presentation in LQT1 and LQT2 patients.	Cohort 243/209/81 cases of LQTS caused by the KCNQ1 potassium channel gene mutations (n=243), cases of LQTS caused by the HERG potassium channel gene mutations (n=209), and cases of LQTS caused by the SCN5A sodium channel gene mutation (n=81) 										
129239	Y	cardiovascular	CARDIOVASCULAR	CARD	Long QT Syndrome|Diseases in Twins	7	7q35-q36	HERG	150272981	150283848		Hayashi K et al. 2000	10987356				potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238			KGB	3757	Hs.188021			Japanese heart journal. 2000 May;41(3):399-404	Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG.		152427	4137	1	2000												
129240	Y	QT interval	CARDIOVASCULAR	CARD		7	7q35-q36	KCNH2	150272981	150305947		Pietila, E.  et al. 2002	12142119	K897T			Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Finnish		CDC GDPinfo	3757	Hs.438823			Journal of the American College of Cardiology. 2002 Aug;40(3):511-4	Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.		152427	12069	2	2002	The common K897T polymorphism of the HERG channel is associated with the maximal duration and transmural dispersion of ventricular repolarization in middle-aged females.	Cohort 226/187 random middle-aged population (226 men/187 women) 										
129241		cardiovascular disease	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Bezzina, C. R.  et al. 2003	12829173				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Cardiovascular research. 2003 Jul;59(1):27-36	A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.		152427	12070	2	2003	 As confirmed in modeling studies, these changes are expected to shorten action potential duration by an increase in I(Kr). This recapitulates the shorter QTc in females homozygous for the 2690C-allele.	Cohort 1,030/352 Caucasian subjects (n=1,030) and a second population sample (n=352) from the same ethnic background 										
129236		cardiac repolarization.	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Bezzina CR 2003	12829173				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			KGB	3757	Hs.438823			Cardiovascular research. 2003 Jul;59(1):27-36	A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.		152427	4134	1	2003	 As confirmed in modeling studies, these changes are expected to shorten action potential duration by an increase in I(Kr). This recapitulates the shorter QTc in females homozygous for the 2690C-allele.	Cohort 1,030/352 Caucasian subjects (n=1,030) and a second population sample (n=352) from the same ethnic background										
129237		Long QT syndrome	CARDIOVASCULAR	CARD	Bradycardia|Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Lupoglazoff JM 2004	14998624				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			KGB	3757	Hs.438823			Journal of the American College of Cardiology. 2004 Mar;43(5):826-30	Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.		152427	4135	1	2004	 Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy.	Cohort 23 neonate probands with long QT syndrome										
129238	Y	unknown	CARDIOVASCULAR	CARD		7	7q35-q36	HERG	150272981	150283848		Pietila E et al. 2002	12142119	K897T			potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238			KGB	3757	Hs.188021			Journal of the American College of Cardiology. 2002 Aug;40(3):511-4	Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women.		152427	4136	1	2002												
129233		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Tester, D. J.  et al. 2005	15840476				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDPinfo	9992	Hs.551521			Heart rhythm. 2005 May;2(5):507-17	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.		603796	22683	2	2005	 In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.											
129234	N	periodic paralysis	NEUROLOGICAL	NEUR	Paralyses, Familial Periodic|Hypokalemic Periodic Paralysis|Paralysis, Hyperkalemic Periodic|Thyrotoxicosis	11	11q13-q14	KCNE3	73843533	73856248		Sternberg, D.  et al. 2003	14504341				Potassium voltage-gated channel, Isk-related family, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005472.3			CDC GDPinfo	10008	Hs.523899			Neurology. 2003 Sep;61(6):857-9	Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.		604433	17907	2	2003	These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.	Case periodic paralysis patients;Control healthy individuals										
129235	N	thryotoxic periodic paralysis	NEUROLOGICAL	NEUR	Paralyses, Familial Periodic	11	11q13-q14	KCNE3	73843533	73856248		Tang, N. L.  et al. 2004	15212652				Potassium voltage-gated channel, Isk-related family, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005472.3	Chinese	Taiwan	CDC GDPinfo	10008	Hs.523899			Clinical endocrinology. 2004 Jul;61(1):109-12	No mutation in the KCNE3 potassium channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients		604433	17908	2	2004	 The results indicate that mutation in KCNE3 is not a cause of TPP in Chinese patients.	Control:111 male thyrotoxic patients without history of:paralysis;Case:79 Chinese thyrotoxic periodic paralysis patients										
129230		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Paulussen, A. D.  et al. 2004	14760488				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDPinfo	9992	Hs.551521			Journal of molecular medicine (Berlin, Germany). 2004 Mar;82(3):182-8	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.		603796	22680	2	2004	We conclude that  missense mutations in the examined cLQTS genes explain only a minority of aLQTS cases.	Case:32 durg-induced acquired long QT syndrome patients with confirmed torsade de pointes;Control:32 healthy individuals										
129231		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Westenskow, P.  et al. 2004	15051636				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDPinfo	9992	Hs.551521			Circulation. 2004 Apr;109(15):1834-41	Compound Mutations. A Common Cause of Severe Long-QT Syndrome		603796	22681	2	2004	 LQTS-associated compound mutations cause a severe phenotype and are more common than expected. Individuals with compound mutations need to be identified, and their management should be tailored to their increased risk for arrhythmias.	Cohort 252 Long QT syndrome probands 										
129232		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Fodstad, H.  et al. 2004	15176425				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1	Finnish	Finland	CDC GDPinfo	9992	Hs.551521			Annals of medicine. 2004 ;36 Suppl 1:53-63	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.		603796	22682	2	2004	 The extent of genetic homogeneity underlying LOTS in Finland is unique in the whole world, providing a major advantage for screening and presymptomatic diagnosis of LOTS, and constituting an excellent basis to study the role of genetic and non-genetic factors influencing phenotypic variability in this disease.	Cohort 188 unrelated probands with long-QT syndrome 										
129227		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Genetic Predisposition to Disease	21	21q22.12	KCNE2	34658192	34665310		Ackerman, M. J.  et al. 2003	14661677				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1		United States	CDC GDPinfo	9992	Hs.551521			Mayo Clinic proceedings Mayo Clinic. 2003 Dec;78(12):1479-87	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibilityto sudden cardiac death and genetic testing for congenital long QT syndrome.		603796	22677	2	2003	 To our knowledge, this study represents the first comprehensive determination of the frequency and spectrum of cardiac channel variants found among healthy subjects from 4 major ethnic groups. Defining the population burden of genetic variants in these critical cardiac ion channels is crucial for proper interpretation of genetic test results of individuals at risk for LQTS. This compendium provides a resource for epidemiological and functional investigation of variant effects on the repolarization properties of cardiac tissues, including susceptibility to lethal cardiac arrhythmias.	Cohort 744 apparently healthy individuals-305 black, 187 white, 134 Asian, and 118 Hispanic 										
129228		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Pfeufer, A.  et al. 2005	15746444				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1		Germany	CDC GDPinfo	9992	Hs.551521			Circulation research. 2005 Apr;96(6):693-701	Common variants in myocardial ion channel genes modify the QT interval in the general population:results from the KORA study.		603796	22678	2	2005	These results confirm previous heritability studies indicating that repolarization is a complex trait with a significant heritable component and demonstrate that high-resolution SNP-mapping in large population samples can detect and fine map quantitative trait loci even if locus specific heritabilities are small.	Cohort 689 individuals from the population-based KORA study 										
129229		long-QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Itoh, T.  et al. 2001	11289718				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDPinfo	9992	Hs.551521			Journal of human genetics. 2001 ;46(1):38-40	Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.		603796	22679	2	2001	In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.	Cohort patients responding to beta-adrenergic blocking agents 	beta blockers									
129224	N	EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	1	1p13.3	KCND3	112119976	112333300		Frank-Hansen, R.  et al. 2005	15563876				Potassium voltage-gated channel, Shal-related subfamily, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004980.3			CDC GDPinfo	3752	Hs.535274			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):95-100	Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome.		605411	22676	2	2005	 The data suggest that mutations in KCND2 and KCND3 are not a frequent cause of long QT syndrome.	Cohort 43 unrelated LQTS patients 										
129225		atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation	X	Xq22.3	KCNE1L	108753584	108755049		Ravn, L. S.  et al. 2005	16054468	97T			KCNE1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012282.2			CDC GDPinfo	23630	Hs.522753			The American journal of cardiology. 2005 Aug;96(3):405-7	Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation.		300328	12068	2	2005												
129226		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	X	Xq22.3	KCNE1L	108753584	108755049		Hofman-Bang, J.  et al. 2004	15193977				KCNE1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012282.2			CDC GDPinfo	23630	Hs.522753			Clinica chimica acta; international journal of clinical chemistry. 2004 Jul;345(2-Jan):49-53	Does KCNE5 play a role in long QT syndrome?		300328	17899	2	2004	The T-allele frequency was 0.13 in LQTS patients and 0.10 in controls.	Case:88 patients with long QT syndrome;Control:90 normal controls										
129221	Y	diabetes, type 2	METABOLIC	MET		19	19q13.3	KCNA7	54262486	54268010		Ding, Q.  et al. 2003	15639836				Potassium voltage-gated channel, shaker-related subfamily, member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031886.2	Chinese		CDC GDPinfo	3743	Hs.306973			Yi chuan. 2003 Mar;25(2):129-32	[Distribution and Significance of cSNP in KCNA7 Gene as a Novel NIDDM Candidate Gene in the Population of Northeast China.]		176268	17897	2	2003	This study demonstrates the frequency of this cSNP complies well with the Hardy-Weinberg equilibrium in normal group,T418M(C/T) is only a polymorphic maker of KCNA7 gene,and the possibility of association between NIDDM and KCNA7 can not be excluded.	Control:141:controls;Case:97 patients witn noninsulin dependent diabetes:mellitus Northeast China										
129222	N	low voltage alpha EEG trait	OTHER	OTH		20	20q13.2	KCNB1	47421911	47533897	n	Mazzanti CM et al. 1996	8698327				Potassium voltage-gated channel, Shab-related subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004975.2			KGB	3745	Hs.84244			Human genetics. 1996 Aug;98(2):134-7	Identification of a Ser857-Asn857 substitution in DRK1 (KCNB1) population frequencies and lack of association to the low voltage alpha EEG trait.		600397	4131	1	1996												
129223	N	EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q31	KCND2	119700957	120177623		Frank-Hansen, R.  et al. 2005	15563876				Potassium voltage-gated channel, Shal-related subfamily, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012281.2			CDC GDPinfo	3751	Hs.21703			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):95-100	Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome.		605410	17898	2	2005	 The data suggest that mutations in KCND2 and KCND3 are not a frequent cause of long QT syndrome.	Cohort 43 unrelated LQTS patients 										
129216		leukemia, acute myelogenous	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Carcinoma|Carcinoma, Non-Small-Cell Lung|Breast Neoplasms|Carcinoma, Ductal, Breast|Colorectal Neoplasms|Lung Neoplasms	9	9p24	JAK2	4975244	5117995		Lee, J. W.  et al. 2005	16247455				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDPinfo	3717	Hs.591081			Oncogene. 2005	The JAK2 V617F mutation in de novo acute myelogenous leukemias.		147796	17893	2	2005												
129217	Y	myelofibrosis	OTHER	OTH	Thrombocythemia, Hemorrhagic|Myelofibrosis|Polycythemia Vera	9	9p24	JAK2	4975244	5117995		Campbell, P. J.  et al. 2005	16293597				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDPinfo	3717	Hs.591081			Blood. 2005	The V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.		147796	17894	2	2005												
129218		polycythemia vera	OTHER	OTH	Polycythemia Vera|Pruritus|Disease Progression	9	9p24	JAK2	4975244	5117995			16369984				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDPinfo	3717	Hs.591081			Cancer. 2006 Feb;106(3):631-5	The clinical phenotype of wild-type, heterozygous, and homozygous JAK2(V617F) in polycythemia vera		147796	17895	2	2005	 The results of the current clinical study support previous laboratory observations that link JAK2(V617F) with the PV phenotype by demonstrating a mutant allele dose effect on erythrocytosis and clinical and laboratory features characteristic of PV. Cancer 2006. (c) 2005 American Cancer Society.											
129219		asthma	IMMUNE	IMM	Asthma	19	19p13.2	JUND	18251569	18253432		Dewar, J. C.  et al. 2003	12724032				Jun D proto-oncogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005354.3		Great Britain	CDC GDPinfo	3727	Hs.2780			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		165162	28235	2	2003	Review article											
129212	Y	Alagille syndrome	CHEMDEPENDENCY	CHEM	Alagille Syndrome|Heart Defects, Congenital|Tetralogy of Fallot	20	20p12.1-p11.23	JAG1	10566333	10602590		McElhinney, D. B.  et al. 2002	12427653				Jagged 1 (Alagille syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000214.1			CDC GDPinfo	182	Hs.590881			Circulation. 2002 Nov;106(20):2567-74	Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.		601920	17891	2	2002	 More than 90% of individuals with a JAG1 mutation or AGS have cardiovascular anomalies, with branch PA stenosis the most common abnormality. Cardiovascular phenotype does not correlate with the type or location of JAG1 mutation.	Cohort 200 individuals with a JAG1 mutation or Alagille syndrome 										
129213		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	14	14q32	JAG2	104679120	104706206			16327884				Jagged 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002226.3			CDC GDPinfo	3714	Hs.433445			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		602570	25138	2	2005												
129214		hepatitis B	INFECTION	INF	Hepatitis B	1	1p32.3-p31.3	JAK1	65071493	65204775		King, J. K.  et al. 2002	12447867				Janus kinase 1 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002227.2			CDC GDPinfo	3716	Hs.207538			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.		147795	27527	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
129209		tinosine triphosphate pyrophosphohydrolase; deficiency	UNKNOWN	UNK	Metabolism, Inborn Errors|Deficiency Diseases	20	20p	ITPA	3138055	3152506		Maeda, T.  et al. 2005	15946879				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2	Japanese	Japan	CDC GDPinfo	3704	Hs.415299			Molecular genetics and metabolism. 2005 Aug;85(4):271-9	Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.		147520	17888	2	2005												
129210		liver transplant	OTHER	OTH		20	20p	ITPA	3138055	3152506		Breen, D. P.  et al. 2005	15973722				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDPinfo	3704	Hs.415299			Liver transplantation. 2005 Jul;11(7):826-33	Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation.		147520	17889	2	2005			azathioprine									
129211		azathioprine toxicity	PHARMACOGENOMIC	PHARM	Crohn Disease	20	20p	ITPA	3138055	3152506		von Ahsen, N.  et al. 2005	16214825				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDPinfo	3704	Hs.415299			Clinical chemistry. 2005 Dec;51(12):2282-8	Association of Inosine Triphosphatase 94C>A and Thiopurine S-Methyltransferase Deficiency with Adverse Events and Study Drop-Outs under Azathioprine Therapy in a Prospective Crohn Disease Study.		147520	17890	2	2005	 Patients with ITPA 94C > A mutations or low TPMT activity constitute a pharmacogenetic high-risk group for drop-out from aza therapy. ITPA 94C>A appears to be a promising marker indicating predisposition to aza intolerance.											
129205		azathioprine toxicity	PHARMACOGENOMIC	PHARM		20	20p	ITPA	3138055	3152506		Marsh, S.  et al. 2004	15322947	P32T			Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2	Caucasian		CDC GDPinfo	3704	Hs.415299			Journal of human genetics. 2004 ;49(10):579-81	Distribution of ITPA P32T alleles in multiple world populations.		147520	12063	2	2004	This data is consistent with previously described allele frequencies in other Caucasian (7%), African (5%), and Asian (11-15%) populations. This data provides a foundation on which prospective screening studies can be planned to identify patients at risk for severe toxicity from azathioprine therapy.	Cohort Central/South American populations, Caucasian and African populations, Asian populations 										
129206	N	inflammatory bowel disease	IMMUNE	IMM		20	20p	ITPA	3138055	3152506		Gearry, R. B.  et al. 2004	15564886	94C>A			Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDPinfo	3704	Hs.415299			Pharmacogenetics. 2004 Nov;14(11):779-81	Lack of association between the ITPA 94C>A polymorphism and adverse effects from azathioprine.		147520	12064	2	2004	We found no significant association between the ITPA 94C>A polymorphism and adverse effects to thiopurine drugs.	Case:74 patients with inflammatory bowel disease intoleranat of azathioprine;Control:74 patients with inflammatory bowel disease who have tolerated azathioprine	thiopurine									
129207		drug hypersensitivity	METABOLIC	MET		20	20p	ITPA	3138055	3152506		Marinaki, A. M.  et al. 2004	15571266				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2	Japanese		CDC GDPinfo	3704	Hs.415299			Nucleosides, nucleotides & nucleic acids. 2004 Oct;23(9-Aug):1399-401	Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population.		147520	12065	2	2004	Allele frequencies of the 138G > A, 561G > A and 708G > A polymorphisms were 0.57, 0.18 and 0.06 respectively in the Japanese population, and with the exception of the 138G > A polymorphism, similar to allele frequencies in Caucasians.	Cohort 100 healthy Japanese individuals 										
129202		atopy; dermatitis and eczema	IMMUNE	IMM	Asthma|Eczema|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31-q32	ITK	156540484	156614687		Graves, P. E.  et al. 2005	16159638				IL2-inducible T-cell kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005546.3			CDC GDPinfo	3702	Hs.558348			The Journal of allergy and clinical immunology. 2005 Sep;116(3):650-6	Association of atopy and eczema with polymorphisms in T-cell immunoglobulin domain and mucin domain-IL-2-inducible T-cell kinase gene cluster in chromosome 5 q 33.		186973	22675	2	2005	 Our findings support a potential role for SNPs in TIM 1, TIM 3, and ITK, independent of each other, in allergic diseases.											
129203		inosine triphosphate deficiency	UNKNOWN	UNK		20	20p	ITPA	3138055	3152506		Cao, H.  et al. 2002	12436200				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2	Caucasian		CDC GDPinfo	3704	Hs.415299			Journal of human genetics. 2002 ;47(11):620-2	DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency		147520	12061	2	2002	The P32T allele frequency of 0.07 in Caucasians was similar to the estimates derived from earlier biochemical studies. P32T was found to be present at varying frequency in other ethnic groups. Two common synonymous single-nucleotide polymorphisms were also identified. These ITPAmarkers, including P32T, provide tools for further study of association with clinical and biochemical phenotypes.	Case Caucasian subject with complete ITP-ase deficiency;Control:125 normal Caucasians										
129204	Y	drug hypersensitivity	METABOLIC	MET	Colitis, Ulcerative|Crohn Disease	20	20p	ITPA	3138055	3152506		Marinaki, A. M.  et al. 2004	15167706				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDPinfo	3704	Hs.415299			Pharmacogenetics. 2004 Mar;14(3):181-7	Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase)		147520	12062	2	2004	Polymorphism in the ITPA gene predicts AZA intolerance. Alternative immunosuppressive drugs, particularly 6-thioguanine, should be considered for AZA-intolerant patients with ITPase deficiency.	Case:62 patients with inflammatory bowel disease suffering adverse drug reactions to AZA therapy;Control:68 consecutive controls treated with AZA for a minimum of 3 months without adverse effect	azathioprine									
129199	N	asthma	IMMUNE	IMM	Asthma	12	12q13.13	ITGB7	51871373	51887267		Vollmert, C.  et al. 2004	15663557				Integrin, beta 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000889.1			CDC GDPinfo	3695	Hs.524458			Clinical and experimental allergy. 2004 Dec;34(12):1841-50	Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma.		147559	14730	2	2004	 These findings indicate that neither the human ITGB7 nor the VDR gene seem to be associated with the pathogenesis of asthma or the expression of related allergic phenotypes such as eosinophilia and changes in total IgE level.	Case:asthmatics;Control helathy probands										
129200	Y	cholesterol	METABOLIC	MET	Hypercholesterolemia	3	3p21-p14	ITIH4	52822045	52839734		Fujita Y 2004	14661079				Inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002218.3		Japan	KGB	3700	Hs.518000			Journal of human genetics. 2004 ;49(1):24-8	Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.		600564	4129	1	2004	These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms.	Cohort 351 adult individuals east-central area of Japan										
129201	Y	hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	3	3p21-p14	ITIH4	52822045	52839734		Fujita, Y.  et al. 2003	14661079				Inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002218.3		Japan	CDC GDPinfo	3700	Hs.518000			Journal of human genetics. 2004 ;49(1):24-8	Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.		600564	17886	2	2003	These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms.	Cohort 351 adult individuals east-central area of Japan 										
129196		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Adams, G. T.  et al. 2003	12871600				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		173470	28381	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
129197		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	17	17q21.32	ITGB3	42686206	42745076		Zee, R. Y.  et al. 2002	12082592				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		173470	28647	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129198		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	12	12q13.13	ITGB7	51871373	51887267		van Heel DA et al. 2001	11781713				Integrin, beta 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000889.1			KGB	3695	Hs.524458			Genes and immunity. 2001 Dec;2(8):455-60	Identification of novel polymorphisms in the beta7 integrin gene: family-based association studies in inflammatory bowel disease.		147559	4128	1	2001												
129194		blood pressure, arterial	CARDIOVASCULAR	CARD		17	17q21.32	ITGB3	42686206	42745076		Sass, C.  et al. 2004	15076187				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		173470	28071	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
129195		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Pallaud, C.  et al. 2001	11341749				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		France|Italy	CDC GDPinfo	3690	Hs.218040			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		173470	28233	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
129191		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	17	17q21.32	ITGB3	42686206	42745076		McCarthy, J. J.  et al. 2003	14557872				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		173470	27779	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
129192		lipid metabolism	METABOLIC	MET		17	17q21.32	ITGB3	42686206	42745076		Pallaud, C.  et al. 2001	11714857				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		173470	27953	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
129193		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Humma, L. M.  et al. 2002	12116890				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		173470	28070	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
129188		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	17	17q21.32	ITGB3	42686206	42745076		Weger, M.  et al. 2005	16157382				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		173470	27525	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
129189		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	17	17q21.32	ITGB3	42686206	42745076		Shields, D. C.  et al. 2002	12082590				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		173470	27526	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
129185		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Falchi, A.  et al. 2005	16248996				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Corsica	France	CDC GDPinfo	3690	Hs.218040			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		173470	26344	2	2005												
129186	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	17	17q21.32	ITGB3	42686206	42745076		Volzke, H.  et al. 2004	12899665				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		173470	27059	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
129187		longevity	CARDIOVASCULAR	CARD	Vascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Hessner, M. J.  et al. 2001	11568114				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		173470	27060	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
129182		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases	17	17q21.32	ITGB3	42686206	42745076		Fox, C. S.  et al. 2004	14963283				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Massachusetts	CDC GDPinfo	3690	Hs.218040			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of Association Between Polymorphisms in the Hemostatic Factor Pathway Genes and Carotid Intimal Medial Thickness. The Framingham Heart Study		173470	26341	2	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort 										
129183		myocardial infarct; heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076			16353042				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Kardiologiia. 2005 ;45(12):17-24	[Associations of Hemostasis Factors Genes With Early Development of Ischemic Heart Disease and Manifestation of Myocardial Infarction in Young Age.]		173470	26342	2	2005	 Thus we obtained data on the presence of independent association between IHD risk and manifestation of MI in young age with genotype TT of polymorphic marker C(-426)T of F5 gene as well as with traditional risk factors of IHD.											
129184		lymphoproliferative disorders	OTHER	OTH	Coronary Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera|Genetic Predisposition to Disease|Hemorrhage	17	17q21.32	ITGB3	42686206	42745076		Afshar-Kharghan, V.  et al. 2004	15166939				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Blood coagulation & fibrinolysis. 2004 Jan;15(1):21-4	Hemostatic gene polymorphisms and the prevalence of thrombotic complications in polycythemia vera and essential thrombocythemia		173470	26343	2	2004	In view of previous studies linking the presence of the Pl allele of GPIIIa to a higher risk for coronary artery thrombosis, our data have physiologic relevance. However, they need to be confirmed in a larger study.	Cohort 86 patients with polycythemia vera (43 patients) or essential thrombocythemia (43 patients) 										
129179		coronary artery disease	CARDIOVASCULAR	CARD	Intracranial Embolism|Cardiovascular Diseases|Coronary Thrombosis|Thrombophilia|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Wu, A. H.  et al. 2001	11397354				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The American journal of cardiology. 2001 Jun;87(12):1361-6	Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases.		173470	26338	2	2001	This study shows that for some genes, further studies are unnecessary, whereas for others, no more enrollments are needed. The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies.	studies clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor 										
129180		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	17	17q21.32	ITGB3	42686206	42745076		Xenophontos, S. L.  et al. 2002	12518110				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Greek	Cyprus	CDC GDPinfo	3690	Hs.218040			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		173470	26339	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
129181		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Donati, M. B.  et al. 2001	11926770				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Haematologica. 2001 Nov;86(11 Suppl 2):28-30	Genetic polymorphisms of clotting factors and coronary heart disease		173470	26340	2	2001	Review article											
129176		myocardial infarction; stroke	CARDIOVASCULAR	CARD		17	17q21.32	ITGB3	42686206	42745076		Bugert, P.  et al. 2005	15847651				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Transfusion. 2005 May;45(5):654-9	Microarray-based genotyping for blood groups:comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model.		173470	25137	2	2005	 The data presented here validate the use of microarray for large-scale SNP typing for clinically relevant blood group alloantigens.	Cohort 71 blinded DNA samples 										
129177	N	cardiac death; cardiac morbidity	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Volzke, H.  et al. 2005	15676177				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			International journal of cardiology. 2005 Jan;98(1):133-9	Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery		173470	26336	2	2005	 We conclude that there are interactions between the angiotensin II type 1 receptor 1166 A/C as well as the angiotensinogen 235 M/T gene polymorphism and age with respect to the outcome after coronary artery bypass graft surgery. The glycoprotein IIIa PlA1/PlA2 and the factor V Leiden 1691 G/A gene polymorphisms were not associated with mid-term mortality or cardiac morbidity after coronary artery bypass grafting.	Cohort 247 coronary artery bypass graft surgery patients 										
129178		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Shaw, G. M.  et al. 2005	16100725				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		California	CDC GDPinfo	3690	Hs.218040			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		173470	26337	2	2005			smoking (tobacco), maternal									
129174		metabolism disorders; myocardial infarction; stroke, ischemic	METABOLIC	MET		17	17q21.32	ITGB3	42686206	42745076		Bennett, J.  et al. 2002	12071877				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Australian		CDC GDPinfo	3690	Hs.218040			Transfusion medicine (Oxford, England). 2002 Jun;12(3):199-203	Gene frequencies of human platelet antigens 1-5 in indigenous Australians in Western Australia.		173470	25135	2	2002	These results indicate a higher potential risk of alloimmunization to HPA-1, -2 and -3 in Australian Aborigines receiving transfusion therapy from a Caucasian blood donor population, thereby having practical implications for transfusion and pregnancy risks in people of Aboriginal origin.	Cohort 185/1000 indigenous Australians (n=185) and Western Australian blood donors (n=1000) 										
129175		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD	Thrombocytopenia	17	17q21.32	ITGB3	42686206	42745076		Higgins, M.  et al. 2004	15355503				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Vox sanguinis. 2004 Aug;87(2):114-7	High-throughput genotyping of human platelet antigens using the 5'-nuclease assay and minor groove binder probe technology.		173470	25136	2	2004	 Genotyping for HPA-1, -2, -3, -5, and -15 by the 5'-NA is suitable for routine analysis. The latest 5'-NA design, using MGB probe technology, ensures superior detection of all alleles and is the most versatile fluorescent assay, ideal for both urgent clinical samples and large-scale screening programs.	Cohort 100 blood samples tested for HPA genotypes 1, 2, 3 and 5 by our traditional sequence-specific primer-polymerase chain reaction (SSP-PCR) method Cohort 41 blood samples tested for HPA-15 by SSP-PCR 										
129171		lymphoproliferative disorders; blood transfusion complications	OTHER	OTH		17	17q21.32	ITGB3	42686206	42745076		Jones, D. C.  et al. 2003	14675395				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			European journal of immunogenetics. 2003 Dec;30(6):415-9	Human platelet alloantigens (HPAs): PCR-SSPgenotyping of a UK population for 15 HPA alleles.		173470	25132	2	2003	This comprehensive HPA genotyping assay allows rapid, accurate and reproducible results at low cost.	Cohort 134 renal donors UK 										
129172		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Park, S.  et al. 2004	15227729				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Korean	Korea	CDC GDPinfo	3690	Hs.218040			Yonsei medical journal. 2004 Jun;45(3):428-34	Association of the gene polymorphisms of platelet glycoprotein Ia and IIb/IIIa with myocardial infarction and extent of coronary artery disease in the Korean population.		173470	25133	2	2004	Conclusively, HPA-3 polymorphism was associated with MI in Korean individuals younger than 56 years of age, but other polymorphisms of GP, which we studied, were not associated with both the extent of coronary atherosclerosis or MI.	Cohort 1,073 Korean subjects who underwent coronary angiography 										
129173		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD		17	17q21.32	ITGB3	42686206	42745076		Halle, L.  et al. 2005	15730528				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	sub-Saharan African		CDC GDPinfo	3690	Hs.218040			Tissue antigens. 2005 Mar;65(3):295-8	HPA polymorphism in sub-Saharan African populations: Beninese, Cameroonians, Congolese, andPygmies.		173470	25134	2	2005	This study is of great importance (i) particularly in the context of the diversity caused by the population migrations, we may observe today in our hospitals (ii) to confirm that the Pygmy population with distinctive frequencies (absence of the HPA-1b, HPA-2b, and HPA-5b highest frequencies) is an isolated population.	Cohort 										
129168		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Iniesta, J. A.  et al. 2003	12499711				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Spain	CDC GDPinfo	3690	Hs.218040			Cerebrovascular diseases (Basel, Switzerland). 2003 ;15(2-Jan):51-5	Polymorphisms of platelet adhesive receptors: dothey play a role in primary intracerebral hemorrhage?		173470	25129	2	2003	 Our results suggest that these polymorphisms play a minor role in PIH.	Case:141 Caucasian patients diagnosed of primary intracerebral hemorrhage;Control:141/446 race-, age-, sex- and risk factor-matched controls (n=141) and general population controls (n=446)										
129169		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Anemia, Sickle Cell	17	17q21.32	ITGB3	42686206	42745076		Castro, V.  et al. 2004	15355504				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Vox sanguinis. 2004 Aug;87(2):118-23	Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia.		173470	25130	2	2004	 The findings of this study suggest that the HPA-5b allele is a genetic risk factor for the development of OVC in patients with SCA. This allele could be explored as a target for the development of new therapeutic approaches.	Cohort 97 patients with sickle cell anemia 										
129170		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q21.32	ITGB3	42686206	42745076		Chen, C. H.  et al. 2004	15546585				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Taiwanese	Taiwan	CDC GDPinfo	3690	Hs.218040			Journal of the neurological sciences. 2004 Dec;227(1):5-Jan	Platelet glycoprotein Ia C807T, Ib C3550T, and IIIa Pl(A1/A2) polymorphisms and ischemic stroke in young Taiwanese.		173470	25131	2	2004	In conclusion, platelet GP Ia C807T and GP Ib C3550T polymorphisms in our population are less common compared with Caucasians, and GP IIIa Pl(A1/A2) genetic mutation is not found, and all of them are not associated with ischemic stroke in young Taiwanese.	Case:157 Taiwanese young ischemic stroke patients:Sep, 2001 - Mar, 2003;Control:157 age- and sexmatched controls										
129165	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	17	17q21.32	ITGB3	42686206	42745076		Hohlagschwandtner, M.  et al. 2003	12738509				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Fertility and sterility. 2003 May;79(5):1141-8	Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage.		173470	25126	2	2003	Our data fall short of showing any significant association between single polymorphisms of the MTHFR, the Factor V Leiden, the Factor II Prothrombin, the HPA 1 and APO B genes or combinations of these polymorphisms and the occurrence of IRM.	Control:101 healthy postmenopausal women with at least two live births and no history of pregnancy loss;Case:145 women with a history of three or more consecutive pregnancy losses before 20 weeks gestation										
129166		polycystic ovary syndrome; pregnancy loss, recurrent	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Blood Coagulation Disorders|Hyperinsulinism|Insulin Resistance|Recurrence|Body Weight	17	17q21.32	ITGB3	42686206	42745076		Glueck, C. J.  et al. 2003	14669168				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Metabolism:  clinical and experimental. 2003 Dec;52(12):1627-32	Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrentpregnancy loss.		173470	25127	2	2003	The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.	Control:116 healthy Caucasian females;Case:33/16 Caucasian women referred for diagnosis and treatment of polycystic ovary syndrome (PCOS) subsequently found to have recurrent pregnancy loss (n=33) and women referred for recurrent pregnancy loss but no PCOS (n=16)										
129162		thrombosis	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076			16380674				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Neuro endocrinology letters. 2005 Dec;26(6):789-94	Polymorphism of the glycoprotein Ia and IIIa in the group of women in childbirth does not correlate with an increased risk of developing thrombosis		173470	22673	2	2005	 Our results did not show the causative relationship between the existence of platelets GP IIIa/GP Ia mutations and venous system thrombosis in the women in labor. Probably presence of pro-thrombotic mutations of platelets glycoprotein in this group of patients does not represent the increased risk of thrombosis.											
129163		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Zotz, R. B.  et al. 2005	15978110				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of thrombosis and haemostasis. 2005 Jul;3(7):1522-9	Association of polymorphisms of platelet membrane integrins alpha IIb(beta)3 (HPA-1b/Pl) and alpha2(beta)1 (alpha807TT) with premature myocardial infarction.		173470	22674	2	2005			blood pressure cholesterol diabetes fibrinogen smoking (tobacco)									
129164		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Morgan, T. M.  et al. 2003	12791034				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Clinical genetics. 2003 Jul;64(1):17-Jul	Overestimation of genetic risks owing to small sample sizes in cardiovascular studies		173470	25125	2	2003	Despite research-based genotyping of over 50,000 subjects, the overall risk for myocardial infarction as a result of PLA2 and ACE D remains doubtful. Our study provides a clear example of how publication of underpowered studies can spuriously implicate polymorphisms as genetic risk factors.											
129159		coronary artery bypass grafting; platelet hyperreactivity	CARDIOVASCULAR	CARD		17	17q21.32	ITGB3	42686206	42745076		Golanski, J.  et al. 2001	11454259				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Platelets. 2001 Jun;12(4):241-7	Platelet hyperreactivity after coronary artery bypass grafting: the possible relevance toglycoprotein polymorphisms. A preliminary report.		173470	22670	2	2001	The platelet hyperfunction seems to relate to the occurrence of platelet glycoprotein polymorphisms GPIa(807)C/T and GPIIIa PlA(1/A2) and may be important in predicting postoperative vascular complications in CABG patients.	Cohort 32 IHD patients (56 +/- 8 years) subjected to CABG surgery 										
129160		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Benze, G.  et al. 2002	11812069				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			European heart journal. 2002 Feb;23(4):325-30	Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men.		173470	22671	2	2002	The GPIIIa Pl(A2)allele is not independently associated with the risk of premature myocardial infarction. The T(807)allele of the GPIa gene alone or in combination with the Pl(A2)allele had no major effect on premature myocardial infarction risk.	Control:138 healthy controls;Case:287 men who had their first myocardial infarction before age 45										
129161		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076			16317580				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Breast cancer research and treatment. 2005	Integrin alpha-2 and beta-3 gene polymorphisms and breast cancer risk		173470	22672	2	2005	We conclude that  functional polymorphisms in integrin genes ITGA2 and ITGB3 influence the development and progression of breast cancer, respectively. The precise mechanism remains to be determined, but likely involves dysregulated signaling pathways.											
129156		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Recurrence	17	17q21.32	ITGB3	42686206	42745076		Bray, P. F.  et al. 2001	11545752				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The American journal of cardiology. 2001 Aug;88(4)	The platelet Pl(A2) and angiotensin-converting enzyme (ACE) D allele polymorphisms and the risk of recurrent events after acute myocardial infarction.		173470	22667	2	2001	These data suggest that it would be important to perform a larger study to address the potential role of these genotypes in therapeutic decision making.	Cohort 4159 men and women with documented myocardial infarction (MI) were randomized to receive either placebo or pravastatin 	pravastatin									
129157		heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hyperlipoproteinemia Type II	17	17q21.32	ITGB3	42686206	42745076		Meshkov, A. N.  et al. 2005	16091654				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Kardiologiia. 2005 ;45(7):14-Oct	[Genetic Factors of Risk of Ischemic Heart Disease Development in Patients With Familial Hypercholesterolemia.]		173470	22668	2	2005	 In patients with FHC polymorphisms in factor VII and GPIIIa genes but not C677T polymorphism of MTHFR gene were associated with the presence of IHD.											
129158		heart disease, ischemic	CARDIOVASCULAR	CARD	Heart Diseases|Myocardial Ischemia|Intraoperative Complications	17	17q21.32	ITGB3	42686206	42745076		Faraday, N.  et al. 2004	15564935				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Anesthesiology. 2004 Dec;101(6):1291-7	Platelet gene polymorphisms and cardiac risk assessment in vascular surgical patients.		173470	22669	2	2004	 Platelet polymorphisms are independent risk factors for postoperative myocardial ischemia and improve a risk prediction model when added to historic and surgical risk factors.	Cohort 190 patients who underwent infrainguinal, abdominal aortic, or thoracoabdominal vascular surgery 										
129153	Y	lipoprotein	METABOLIC	MET	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Weiss, L. A.  et al. 2005	15834589				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		South Dakota	CDC GDPinfo	3690	Hs.218040			Human genetics. 2005 Jun;117(1):81-7	Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample.		173470	17882	2	2005	Our results suggest that variation in ITGB3 in addition to Leu33Pro could contribute to susceptibility to CVD and serotonin in a sex-specific manner.	Cohort Hutterite individuals in a population-based sample 										
129154		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Bojesen, S. E.  et al. 2005	15970922				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			British journal of cancer. 2005 Jul;93(1):167-71	No association of breast cancer risk with integrin beta3 (ITGB3) Leu33Pro genotype.		173470	17883	2	2005												
129155		coronary artery bypass graft	CARDIOVASCULAR	CARD	Blood Loss, Surgical|Postoperative Hemorrhage	17	17q21.32	ITGB3	42686206	42745076		Morawski, W.  et al. 2005	16153930				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The Journal of thoracic and cardiovascular surgery. 2005 Sep;130(3):791-6	Prediction of the excessive perioperative bleeding in patients undergoing coronary artery bypass grafting: role of aspirin and platelet glycoproteinIIIa polymorphism.		173470	17885	2	2005	 PlA1 homozygotes normally had a greater risk of perioperative bleeding. Capillary closure time had no advantage relative to Simplate bleeding time in predicting postoperative blood loss. Aspirin pretreatment revealed no beneficial effects and resulted in increased postoperative bleeding and requirement for blood product transfusions after coronary artery bypass grafting in patients with stable angina. It was most unfavorable for PlA2 carriers.		aspirin									
129150	Y	Glanzmann thrombasthenia	UNKNOWN	UNK	Thrombasthenia	17	17q21.32	ITGB3	42686206	42745076		Rosenberg, N.  et al. 2004	15219201				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of thrombosis and haemostasis. 2004 Jul;2(7):1167-75	A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation.		173470	17879	2	2004	 A novel Phe171Cys mutation in the alpha(IIb) gene of patients with GT is associated with abrogation of alpha(IIb)beta(3) complex formation.	Cohort Cohort 110 healthy subjects 										
129151	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076			15575508				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Moscow	CDC GDPinfo	3690	Hs.218040			Genetika. 2004 Oct;40(10):1402-5	[Association of polymorphic marker A1/A2 of gene ITGB3 with coronary artery disease and myocardial infarction]		173470	17880	2	2004	This indicates that this polymorphic marker is not associated with either CAD or MI in the Moscow population.	Case patients with coronary artery disease (CAD), including those who have had myocardial infarction:Moscow;Control:controls										
129152	Y	asthma; allergy	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Weiss, L. A.  et al. 2005	15817799				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			American journal of respiratory and critical care medicine. 2005 Jul;172(1):67-73	Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations.		173470	17881	2	2005	 This study provides evidence that ITGB3 plays a role in the pathogenesis of asthma and sensitization to mold allergens.	Case asthmatic Caucasians and African Americans from 3 independent case-control populations;Control non-asthmatic Caucasians and African Americans from 3 independent case-control populations										
129147		atherosclerosis, coronary; fibrinogen	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Boekholdt, S. M.  et al. 2004	14691438				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			American heart journal. 2004 Jan;147(1):181-6	Interaction between a genetic variant of the platelet fibrinogen receptor and fibrinogen levels in determining the risk of cardiovascular events.		173470	17876	2	2004	 We observed a statistically significant interaction between a genetic variant of the platelet fibrinogen receptor and fibrinogen levels in determining the risk of cardiovascular events. This interaction may account for the inconsistent results of genetic association studies investigating this genotype as a genetic risk factor in thrombotic cardiovascular events.	Cohort 455 men with angiographicall codumented coronary atherosclerosis 										
129148	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Abu-Amero, K. K.  et al. 2004	15166947				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Saudi Arabia	CDC GDPinfo	3690	Hs.218040			Blood coagulation & fibrinolysis. 2004 Jan;15(1):77-9	Association of the platelet glycoprotein receptor IIIa (PIA1/PIA1) genotype with coronary artery disease in Arabs		173470	17877	2	2004	In conclusion, our results suggest that the Pl/PI genotype (P = 0.029) is associated with CAD in Saudi Arabs.	Case:451 angiographically confirmed CAD patients of Arabic ethnic background;Control:509 healthy blood donors										
129149	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q21.32	ITGB3	42686206	42745076		Slowik, A.  et al. 2004	15178823				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Stroke; a journal of cerebral circulation. 2004 Jul;35(7):1589-93	A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males.		173470	17878	2	2004	 A2 allele of the GpIIIa gene is an independent risk factor for LVD stroke in males.	Case:103 patients with stroke caused by small-vessel disease;Control:182 controls (TOAST criteria);Case:182 patietns with cardioembolic stroke;Control:184 controls matched to patients with stroke caused by large-vessel disease;Control:206 controls matched to patients with stroke caused by small-vessel disease;Case:92 patients with stroke caused by large-vessel disease										
129144	Y	cancer	CANCER	CAN	Neoplasms|Neoplasm Invasiveness|Disease Progression|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Bojesen, S. E.  et al. 2003	12902444				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Denmark	CDC GDPinfo	3690	Hs.218040			Journal of the National Cancer Institute. 2003 Aug;95(15):1150-7	Integrin beta3 Leu33Pro homozygosity and risk of cancer.		173470	17872	2	2003	 Individuals homozygous for the Leu33Pro polymorphism of the beta3 integrin subunit have an increased cancer risk.	Cohort 9,242 participants from the Copenhagen City Heart Study with 24 years of follow-up and endpoints from the Danish Cancer Registry 										
129145	Y	myocardial infarct; cardiovascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Bojesen, S. E.  et al. 2003	12932598				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Denmark	CDC GDPinfo	3690	Hs.218040			Journal of the American College of Cardiology. 2003 Aug;42(4):661-7	Platelet glycoprotein IIb/IIIa Pl(A2)/Pl(A2) homozygosity associated with risk of ischemic cardiovascular disease and myocardial infarction in young men. The Copenhagen City Heart Study		173470	17873	2	2003	 Pl(A2)/Pl(A2) homozygosity is associated with a three-fold and four-fold risk of ischemic cardiovascular disease and MI in young men.	Cohort 9,149 participants of the Copenhagen City Heart Study from the Danish general population Denmark 										
129141		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Chen, J. H.   2002	12362250				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Caucasian		CDC GDPinfo	3690	Hs.218040			Thrombosis and haemostasis. 2002 Oct;88(4):694-7	Genetic risk factors associated with the prognosis of myocardial infarction in young patients		173470	17868	2	2002	Our results indicated that the distributions of some hemostatic genetic polymorphisms between Asians and Caucasians were significantly different. In a group of young patients suviving their first myocardial infarction, some genetic factors might influence the prognosis after myocardial infarction. Such information is valuable for risk stratification in patients with myocardial infarction.	Case:140 Chinese patients with premature myocardial:infarction Jul 1988-May 2001;Control:200 age- and sex-matched controls										
129143		atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Tschoepe, D.  et al. 2003	12827240				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Diabetologia. 2003 Jul;46(7):984-9	Genetic variation of the platelet- surface integrin GPIIb-IIIa (PIA1/A2-SNP) shows a high association with Type 2 diabetes mellitus		173470	17871	2	2003	This study confirms a trendwise association of PlA2 with severe coronary artery disease, but rather suggests an even stronger, highly significant association with the metabolic condition of Type 2 diabetes mellitus. This justifies the speculation that pathways dependent on the platelet alpha(2)beta(3) integrin physiology could be implicated in the pathogenesis of Type 2 diabetes which lends further support to the "common soil" hypothesis of diabetes and vascular disease.	Case:112/44 type 2 diabetic patients (n=112) and non-diabetic patients with angiographically documented cardiovascular disease (n=44);Control:59 non-diabetic subjects with no angiografical signs of CAD										
129138		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076			16158739				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Urologiia. 2005	[Prognostic implications of GP3a glucoprotein gene PLA1/PLA2 allele in prostatic cancer: pilot resultsof the study]		173470	12059	2	2005												
129139		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	17	17q21.32	ITGB3	42686206	42745076		Pegoraro, R. J.  et al. 2003	12716314				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	South African	South Africa	CDC GDPinfo	3690	Hs.218040			Acta obstetricia et gynecologica Scandinavica. 2003 Apr;82(4):313-7	Plasminogen activator inhibitor type 1 (PAI1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in Black South Africans with pre-eclampsia.		173470	13654	2	2003	 Neither the 4G allele of the plasminogen activator inhibitor Type 1 nor the PlA2 allele of the platelet glycoprotein IIIa have any significant role as risk factors in the patho-etiology of pre-eclampsia in Black South Africans, although these genes cannot yet be excluded as contributory to this disorder. It is possible that the underlying causes of pre-eclampsia may vary between different ethnic populations.	Case:151 Black Zulu-speaking pre-eclamptics;Control:217 ethnically matched healthy normotensive pregnant women who had normal full-term gestations										
129140		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Pegoraro, R. J.  et al. 2005	16307159				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Indian		CDC GDPinfo	3690	Hs.218040			Cardiovascular journal of South Africa. 2005 Sep-Oct;16(5):266-70	Plasminogen activator inhibitor type 1 (PAI-1) and platelet glycoprotein IIIa (PGIIIa) polymorphisms in young Asian Indians with acute myocardial infarction.		173470	13711	2	2005	 In young Asian Indians who smoke, the PAI-1 4G allele is a mild risk factor for the development of MI. The PGIIIa PI A2 allele constitutes a significant risk for individuals who have a previous history of MI, as well as serving as an indicator for the severity of CHD.											
129135		acute coronary syndrome; aspirin resistance	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hypertension|Dyslipidemias|Obesity|Syndrome	17	17q21.32	ITGB3	42686206	42745076		Papp, E.  et al. 2005	15840736				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The Annals of pharmacotherapy. 2005 Jun;39(6):1013-8	Glycoprotein IIIA gene (PlA) polymorphism and aspirin resistance: is there any correlation?		173470	12056	2	2005	 Our results support the hypothesis that carriers of the PlA2 allele might have an increased risk for ACS. PlA2 homozygosity was associated with an inadequate response to aspirin therapy. Our data further suggest that patients with PlA2 allele homozygosity might benefit from antiplatelet therapy based on adenosine diphosphate antagonists throughout secondary treatment for prevention of ACS.	Case:158/69 patients with acute coronary syndrome(n=158) and individuals who had suffered ischemic stroke (n=69);Control:199 healthy volunteers	aspirin									
129136		aspirin resistance	PHARMACOGENOMIC	PHARM	Coronary Stenosis|Coronary Restenosis|Thrombophilia	17	17q21.32	ITGB3	42686206	42745076		Pamukcu, B.  et al. 2005	15990752				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			American heart journal. 2005 Apr;149(4):675-80	The role of platelet glycoprotein IIIa polymorphism in the high prevalence of in vitro aspirin resistance in patients with intracoronary stent restenosis.		173470	12057	2	2005	 Our results suggest that platelets of patients with intracoronary stent restenosis with or without Pl A2 heterozygosity of glycoprotein IIIa are more likely to be resistant to low-dose aspirin therapy.											
129137		platelet aggregation	HEMATOLOGICAL	HEM	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Aalto-Setala, K.  et al. 2005	16133898				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of thrombosis and thrombolysis. 2005 Aug;20(1):57-63	The effect of glycoprotein IIIa PIA 1/A2 polymorphism on the PFA-100 response to GP IIb IIa receptor inhibitors-the importance of anticoagulants used.		173470	12058	2	2005			abciximab eptifibatide tirofiban									
129132	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast	17	17q21.32	ITGB3	42686206	42745076		Wang-Gohrke, S.  et al. 2004	15609125				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	German	Germany	CDC GDPinfo	3690	Hs.218040			Breast cancer research and treatment. 2004 Dec;88(3):231-7	Integrin beta3 Leu33Pro polymorphism and breast cancer risk: a population-based case-control studyin Germany		173470	12052	2	2004	Our data suggest that inheritance of the integrin beta(3) Leu33Pro polymorphism may increase the breast cancer risk by age 45 in the German population.	Control:controls;Case German Caucasian breast cancer cases										
129133	N	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Glomerulonephritis, Membranous|Glomerulosclerosis, Focal Segmental|Kidney Failure, Chronic|Proteinuria	17	17q21.32	ITGB3	42686206	42745076		Bantis, C.  et al. 2004	15627799	Leu/Pro33			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Nephron Experimental nephrology [electronic resource]. 2005 February;99(2):e33-7	Influence of beta3 integrin gene Leu/Pro33 polymorphism on primary glomerulonephritis.		173470	12053	2	2004	 Our results indicate that beta3 integrin Leu33/Pro33 polymorphism is not a risk factor or a marker of progression in primary glomerulonephritis.	Control:100:controls;Case:251 patients with biopsy-proven primary glomerulonephritis (IgAN n = 127, FSGS n = 71, MGN:n = 53)										
129134	Y	fetal loss, early	REPRODUCTION	REP	Abortion, Spontaneous|Fetal Death	17	17q21.32	ITGB3	42686206	42745076		Ruzzi, L.  et al. 2005	15705408				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Fertility and sterility. 2005 Feb;83(2):511-2	Association of PLA2 polymorphism of the ITGB3 gene with early fetal loss.		173470	12055	2	2005	PLA2 polymorphism may be implicated in an inherited form of thrombophilia, and to early fetal loss.	Control:38 healthy controls;Case:98 women in fertile age, who experienced at least one episode of early fetal loss										
129129		thromboembolism, venous	CARDIOVASCULAR	CARD	Coronary Thrombosis	17	17q21.32	ITGB3	42686206	42745076		Angiolillo, D. J.  et al. 2004	15166949				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Blood coagulation & fibrinolysis. 2004 Jan;15(1):89-93	PlA polymorphism and platelet reactivity following clopidogrel loading dose in patients undergoing coronary stent implantation		173470	12048	2	2004	In conclusion, the Pl polymorphism of the GPIIIa gene modulates platelet reactivity towards clopidogrel front loading in patients undergoing coronary stenting. This suggests the need for individualized antithrombotic regimens to optimally inhibit platelet reactivity.	Cohort 38 patients undergoing coronary stent implantation receiving a 300 mg clopidogrel loading-dose 	clopidogrel									
129131	N	myocardial infarct; atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Marz, W.  et al. 2004	15565371				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Diabetologia. 2004 Nov;47(11):1969-73	The PlA1/A2 polymorphism of platelet glycoprotein IIIa is not associated with the risk of type 2 diabetes. The Ludwigshafen Risk and Cardiovascular Health study.		173470	12051	2	2004	The GPIIIa PlA1/A2 polymorphism is not associated with type 2 diabetes, glucose metabolism, angiographic CHD or myocardial infarction.	Case:1,051 patients with type 2 diabetes from the Ludwigshafen Risk and Cardiovascular Health Study;Control:2,247 individuals without type 2 diabetes										
129126	Y	heart disease, ischemic; peripheral vascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Angina Pectoris|Myocardial Infarction|Arterial Occlusive Diseases|Intermittent Claudication|Peripheral Vascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Smith, F. B.  et al. 2003	14987913				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Scotland	CDC GDPinfo	3690	Hs.218040			Thrombosis research. 2003 ;112(4):209-16	Relationship of the platelet glycoprotein Pl(A) and fibrinogen T/G(+1689) polymorphisms with peripheral arterial disease and ischaemic heart disease		173470	12044	2	2003	 The Pl(A2) genotype was associated with a decreased risk of developing IC. There was no significant relationship between fibrinogen T/G(+1689) genotype and ischaemic and peripheral heart disease in this older population.	Cohort 939 subjects from the Edinburgh Artery Study 										
129127		ventricular assist devices complications	UNKNOWN	UNK	Thromboembolism|Postoperative Hemorrhage|Postoperative Complications	17	17q21.32	ITGB3	42686206	42745076		Potapov, E. V.  et al. 2004	14992889				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The Annals of thoracic surgery. 2004 Mar;77(3):869-74; discussion 874	Clinical significance of PlA polymorphism of platelet GP IIb/IIIa receptors during long-term VAD support.		173470	12045	2	2004	 In patients with a long-term VAD determination of PlA polymorphism and subsequent adjustment of the anticoagulation regime may lead to a reduction of bleeding and thromboembolic complications.	Cohort 41 consecutive patients treated with a ventricular assist device who received anticoagulation with phenprocoumon and aspirin 	anticoagulation									
129123	Y	aspirin resistance	OTHER	OTH		17	17q21.32	ITGB3	42686206	42745076		Macchi, L.  et al. 2003	13678940				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of the American College of Cardiology. 2003 Sep;42(6):1115-9	Resistance in vitro to low-dose aspirin is associated with platelet PlA1 (GP IIIa) polymorphism but not with C807T(GP Ia/IIa) and C-5T Kozak (GP Ibalpha) polymorphisms.		173470	12041	2	2003	 Platelets homozygous for the Pl(A1) allele appear to be less sensitive to inhibitory action of low-dose aspirin. This differential sensitivity to aspirin may have potential clinical implications whereby specific antiplatelet therapy may be best tailored according to the patient's Pl(A) genotype.	Cohort 98 patients on aspirin (160 mg/day) for at least one month 	aspirin									
129125	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Gorchakova, O.  et al. 2004	14691579				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Thrombosis and haemostasis. 2004 Jan;91(1):141-5	PlA polymorphism of the glycoprotein IIIa and efficacy of reperfusion therapy in patients with acute myocardial infarction.		173470	12043	2	2004	Thus, these findings show that the functional Pl(A) polymorphism of platelet glycoprotein IIIa has no influence on the degree of myocardial salvage achieved by reperfusion therapies in patients with acute myocardial infarction.	Cohort 292 patients enrolled in 2 randomized trials that compared stenting plus abciximab with thrombolysis (alteplase alone or alteplase plus abciximab) in acute myocardial infarction 	abcixmab alteplase									
129120	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	17	17q21.32	ITGB3	42686206	42745076		Burr, D.  et al. 2003	12720308				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Statistics in medicine. 2003 May;22(10):1741-60	A meta-analysis of studies on the association of the platelet PlA polymorphism of glycoprotein IIIa and risk of coronary heart disease.		173470	12037	2	2003	Results from both of these analyses is about the same, and is that there is evidence that the Pl(A2) polymorphism is associated with an increased risk of coronary heart disease.											
129121	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Szolnoki, Z.  et al. 2003	12818249				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Thrombosis research. 2003 Mar;109(6-May):265-9	Increased prevalence of platelet glycoprotein IIb/IIIa PLA2 allele in ischaemic stroke associated with large vessel pathology.		173470	12039	2	2003	 These data suggest that the PLA2 allele is more frequent in brain infarcts associated with large-vessel occlusion.	Cohort 638 consecutive patients classified as having large vessel pathology (n=168) or a small vessel infarct (n=210) 										
129122		asthma; allergy	NORMALVARIATION	NV	Coronary Disease	17	17q21.32	ITGB3	42686206	42745076		Lim, J.  et al. 2003	12957761				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Chinese	Malaysia|Singapore|India|China	CDC GDPinfo	3690	Hs.218040			International journal of cardiology. 2003 Aug;90(3-Feb):269-73	Variation of the platelet glycoprotein IIIa PI(A1/A2) allele frequencies in the three ethnic groups of Singapore.		173470	12040	2	2003	 We observed a significantly higher frequency of the PI(A2) allele among Indians relative to the Chinese and Malays in Singapore. The effect of this genotype may partially explain the higher rate of ischaemic heart disease seen among Indians compared to the Chinese and Malay ethnic groups.	Cohort 706 random male individuals Singapore 										
129118		coronary syndromes, acute	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction|Syndrome|Acute Disease	17	17q21.32	ITGB3	42686206	42745076		Barakat, K.  et al. 2001	11704375				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of the American College of Cardiology. 2001 Nov;38(6):1639-43	Interaction between smoking and the glycoprotein IIIa P1(A2) polymorphism in non-ST-elevation acute coronary syndromes.		173470	12034	2	2001	 There is a significant reduction in the P1(A2) polymorphism in smokers admitted with non-ST-elevation ACS compared with nonsmokers, which suggests an interaction between smoking and this polymorphism.	Cohort 220 Caucasoid patients admitted with non-ST-elevation ACS fulfilling Braunwald class IIIb criteria for unstable angina who were stratified by smoking status 	smoking (tobacco)									
129119	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Gruchala, M.  et al. 2003	12714203				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Caucasian	Poland	CDC GDPinfo	3690	Hs.218040			International journal of cardiology. 2003 Apr;88(3-Feb):229-37	Association between the Pl(A) platelet glycoprotein GPIIIa polymorphism and extent of coronary artery disease.		173470	12036	2	2003	 Our results suggest, that the Pl(A1/A1) genotype of Pl(A) GPIIIa polymorphism is associated with more severe CAD in male Caucasian patients from the north region of Poland.	Cohort 397 male Caucasian angiographically confirmed coronary artery disease patients Poland 										
129115		coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Cadaver	17	17q21.32	ITGB3	42686206	42745076		Mikkelsson, J.  et al. 2001	11257275				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Atherosclerosis. 2001 Feb;154(3):721-7	The GPIIIa (beta(3) integrin) Pl(A) polymorphism in the early development of coronary atherosclerosis		173470	12029	2	2001	The findings of this study suggest that Pl(A1/A1) homozygotes may be prone to early atherosclerosis and more rapid progression of stable CAD whereas carriers of the Pl(A2) allele are more prone to thrombotic complications.	Cohort 700 middle-aged Caucasian Finnish men suffering sudden out-of-hospital death 										
129116		fibrinogen; platelet aggregability	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Feng, D.  et al. 2001	11447076				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Circulation. 2001 Jul;104(2):140-4	Platelet glycoprotein IIIa Pl(a) polymorphism, fibrinogen, and platelet aggregability: TheFramingham Heart Study.		173470	12031	2	2001	 Higher fibrinogen levels were associated with increased platelet aggregability. However, the association between fibrinogen and platelet aggregability was genotype specific. This interaction may be responsible for the conflicting findings regarding Pl(A) genotype and platelet aggregability. Further study of this gene-environment interaction may provide insight into cardiovascular disease risk.	Cohort 1340 subjects enrolled into the Framingham Offspring Study 										
129117	N	thrombosis	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis	17	17q21.32	ITGB3	42686206	42745076		Renner, W.  et al. 2001	11533523				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Austria	CDC GDPinfo	3690	Hs.218040			International angiology. 2001 Jun;20(2):148-51	The PlA1/A2 polymorphism of platelet glycoprotein IIIa is not associated with deep venous thrombosis.		173470	12032	2	2001	 Our data suggest that the PlA1/A2 polymorphism of GP IIIa is not associated with DVT.	Case:206 patients with documented deep venous thrombosis;Control:310 sex- and age-matched control subjects										
129112	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Zhu, M. M.  et al. 2000	11053714				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The American journal of cardiology. 2000 Nov;86(9):1000-5, A8	Meta-analysis of the association of platelet glycoprotein IIIa PlA1/A2 polymorphism with myocardial infarction.		173470	12026	2	2000	The PlA2 polymorphism was not found to be associated with an increased risk of myocardial infarction, either overall or in selected subgroups, which were patients with premature disease onset (age < or = 60 years), first acute myocardial infarction, and patients who were men, women, and exclusively Caucasian.											
129113		platelet aggregation	HEMATOLOGICAL	HEM	Coronary Disease	17	17q21.32	ITGB3	42686206	42745076		Boudoulas, K. D.  et al. 2001	11151063				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Archives of pathology & laboratory medicine. 2001 Jan;125(1):112-5	The PlA polymorphism of glycoprotein IIIa functions as a modifier for the effect of estrogen on platelet aggregation.		173470	12027	2	2001	 Estrogen inhibits the aggregation of platelets, but such inhibition is highly dependent on the presence or absence of the PlA2 polymorphism of GPIIIa. However, in the presence of aspirin, the inhibitory effect of estrogen on aggregation was no longer detectable.	Cohort 20/10 healthy men (n = 20, 10 PlA1/A1 and 10 PlA1/A2) and premenopausal healthy women (n = 10, 5 PlA1/A1 and 5 PlA1/A2 	aspirin estrogen									
129114		neurocognitive decline	AGING	AGE	Intracranial Arteriosclerosis|Intracranial Embolism|Postoperative Complications	17	17q21.32	ITGB3	42686206	42745076		Mathew, J. P.  et al. 2001	11235724				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The Annals of thoracic surgery. 2001 Feb;71(2):663-6	Platelet PlA2 polymorphism enhances risk of neurocognitive decline after cardiopulmonary bypass. Multicenter Study of Perioperative Ischemia (McSPI) Research Group.		173470	12028	2	2001	 This study demonstrates a link between the PlA2 allele of platelet GPIIIa and more severe neurocognitive decline after cardiopulmonary bypass. Although the mechanism is unknown, it could represent exacerbation of platelet-dependent thrombotic processes associated with plaque embolism.	Cohort 70 patients undergoing cardiopulmonary bypass 										
129109	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076	n	Tsai DH et al. 2001	11728949				integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			American journal of kidney diseases. 2001 Dec;38(6):1185-90	Platelet collagen receptor alpha2beta1 integrin and glycoprotein IIIa Pl(A1/A2) polymorphisms are not associated with nephropathy in type 2 diabetes.		173470	4126	1	2001												
129111		sudden cardiac death	UNKNOWN	UNK	Death, Sudden, Cardiac|Coronary Thrombosis	17	17q21.32	ITGB3	42686206	42745076		Mikkelsson, J.  et al. 2000	11028489				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of the American College of Cardiology. 2000 Oct;36(4):1317-23	Glycoprotein IIIa Pl(A1/A2) polymorphism and sudden cardiac death.		173470	12025	2	2000	 Our results suggest that the A2 allele of the Pl(A1/A2) polymorphism of GPIIIa is a major risk factor of coronary thrombosis and may be one important predictor of SCD in early middle age.	Control:258/127 men who died violently (n = 258) or of other:diseases (n = 127);Case:281 victims of sudden cardiac death										
129106		cardiovascular	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Boekholdt SM 2004	14691438				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			American heart journal. 2004 Jan;147(1):181-6	Interaction between a genetic variant of the platelet fibrinogen receptor and fibrinogen levels in determining the risk of cardiovascular events.		173470	4123	1	2004	 We observed a statistically significant interaction between a genetic variant of the platelet fibrinogen receptor and fibrinogen levels in determining the risk of cardiovascular events. This interaction may account for the inconsistent results of genetic association studies investigating this genotype as a genetic risk factor in thrombotic cardiovascular events.	Cohort 455 men with angiographicall codumented coronary atherosclerosis										
129107	N	diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Peripheral Vascular Diseases|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Carter AM 1998	9585397	PI(A)			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			Y Wang	3690	Hs.218040	Complications		Diabetic medicine. 1998 Apr;15(4):315-9	Polymorphisms of platelet glycoproteins in relation to macrovascular disease in type 2 diabetes mellitus.		173470	4124	1	1998												
129108	N	intimal medial thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases	17	17q21.32	ITGB3	42686206	42745076		Fox CS 2004	14963283	Pl(A2)			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Massachusetts	KGB	3690	Hs.218040			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):e65-7	Absence of association between polymorphisms in the hemostatic factor pathway genes and carotid intimal medial thickness: the Framingham Heart Study.		173470	4125	1	2004	 There is no evidence for an association between well-studied polymorphisms in the hemostatic factor genes and carotid IMT. Whether other common genetic variants in hemostatic factor genes are associated with subclinical atherosclerosis remains to be determined.	Cohort 867/911 men (n=867) and women (n=911) (mean age, 57 years) in the Framingham offspring cohort										
129104	N	Type 1 Diabetes and Type 2 Diabetes	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Pucci L 2003	14634961	PlA1/PlA2			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			Y Wang	3690	Hs.218040	Complications		Giornale italiano di nefrologia. 2003 Sep-Oct;20(5):461-9	Integrin Beta 3 PlA1/PlA2 polimorphism does not contribute to complications in both type 1 and type 2 diabetes , trans Il polimorfismo PlA1/PlA2 dell'integrina Beta 3 non contribuisce al rischio di complicanze micro- e macrovascolari nel diabete tipo 1 e		173470	4121	1	2003	 The PlA1/PlA2 polymorphism of the GPIIIa gene does not contribute to the development of nephropathy or retinopathy in type 1 and type 2 diabetes. Furthermore, no association was found between the PlA1/PlA2 polymorphism, hypertension, and coronary heart disease.	Cohort 732/605 type 1 diabetic (n=732) and type 2 (n=605) diabetic subjects										
129105	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	17	17q21.32	ITGB3	42686206	42745076		Volzke H 2004	12899665	A1/A2			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		173470	4122	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
129100	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076	n	Hirashiki A 2003	14563588	1565T3C (Leu33Pro)			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Japanese	Japan	KGB	3690	Hs.218040			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		173470	4117	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
129101	Y	cancer.	CANCER	CAN	Neoplasms|Neoplasm Invasiveness|Disease Progression|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Bojesen SE 2003	12902444	Leu33Pro			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Denmark	KGB	3690	Hs.218040			Journal of the National Cancer Institute. 2003 Aug;95(15):1150-7	Integrin beta3 Leu33Pro homozygosity and risk of cancer.		173470	4118	1	2003	 Individuals homozygous for the Leu33Pro polymorphism of the beta3 integrin subunit have an increased cancer risk.	Cohort 9,242 participants from the Copenhagen City Heart Study with 24 years of follow-up and endpoints from the Danish Cancer Registry										
129102	Y	Increased platelet aggregability	HEMATOLOGICAL	HEM	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Feng D et al. 1999	10195947	PlA2			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Arteriosclerosis, thrombosis, and vascular biology. 1999 Apr;19(4):1142-7	Increased platelet aggregability associated with platelet GPIIIa PlA2 polymorphism: the Framingham Offspring Study.		173470	4119	1	1999												
129097		normal variation	NORMALVARIATION	NV	Coronary Disease	17	17q21.32	ITGB3	42686206	42745076		Lim J 2003	12957761	PI(A2) variant			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Singapore	Malaysia|Singapore|India|China	KGB	3690	Hs.218040			International journal of cardiology. 2003 Aug;90(3-Feb):269-73	Variation of the platelet glycoprotein IIIa PI(A1/A2) allele frequencies in the three ethnic groups of Singapore.		173470	4114	1	2003	 We observed a significantly higher frequency of the PI(A2) allele among Indians relative to the Chinese and Malays in Singapore. The effect of this genotype may partially explain the higher rate of ischaemic heart disease seen among Indians compared to the Chinese and Malay ethnic groups.	Cohort 706 random male individuals Singapore										
129098	Y	Resistance in vitro to low-dose aspirin	OTHER	OTH		17	17q21.32	ITGB3	42686206	42745076		Macchi L 2003	13678940				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Journal of the American College of Cardiology. 2003 Sep;42(6):1115-9	Resistance in vitro to low-dose aspirin is associated with platelet PlA1 (GP IIIa) polymorphism but not with C807T(GP Ia/IIa) and C-5T Kozak (GP Ibalpha) polymorphisms.		173470	4115	1	2003	 Platelets homozygous for the Pl(A1) allele appear to be less sensitive to inhibitory action of low-dose aspirin. This differential sensitivity to aspirin may have potential clinical implications whereby specific antiplatelet therapy may be best tailored according to the patient's Pl(A) genotype.	Cohort 98 patients on aspirin (160 mg/day) for at least one month	aspirin									
129099		SLE	IMMUNE	IMM	Raynaud Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Tolusso B 2003	12860739				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Annals of the rheumatic diseases. 2003 Aug;62(8):781-2	Platelet GPIIb/IIIa (P1A 1/2) polymorphism in SLE: clinical and laboratory association.		173470	4116	1	2003												
129094	Y	double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa	OTHER	OTH	Myocardial Infarction|Blood Platelet Disorders	17	17q21.32	ITGB3	42686206	42745076		Pontiggia L et al. 2002	12482840				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Arteriosclerosis, thrombosis, and vascular biology. 2002 Dec;22(12):2093-8	Increased platelet-collagen interaction associated with double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa.		173470	4111	1	2002	 The combined homozygous prothrombotic SNPs of GPIa and GPIIIa are associated with an increased platelet-collagen interaction and procoagulant activity that can be readily demonstrated in several independent systems. Our patient may serve as a useful model for the functional consequences of two combined, potentially procoagulant, platelet SNPs.											
129095		myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Gardemann A et al. 1998	9716139	PlA1/A2			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Thrombosis and haemostasis. 1998 Aug;80(2):214-7	Association of the platelet glycoprotein IIIa PlA1/A2 gene polymorphism to coronary artery disease but not to nonfatal myocardial infarction in low risk patients.		173470	4112	1	1998	 Whereas no difference in the distribution of allele and genotype frequencies between controls and survivors of MI could be detected, the PlA2 allele is associated with CHD in low risk patients.											
129096	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Zhu MM et al. 2000	11053714	PIA1			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			The American journal of cardiology. 2000 Nov;86(9):1000-5, A8	Meta-analysis of the association of platelet glycoprotein IIIa PlA1/A2 polymorphism with myocardial infarction.		173470	4113	1	2000	The PlA2 polymorphism was not found to be associated with an increased risk of myocardial infarction, either overall or in selected subgroups, which were patients with premature disease onset (age < or = 60 years), first acute myocardial infarction, and patients who were men, women, and exclusively Caucasian.											
129091		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	21	21q22.3	ITGB2	45130296	45173181		Zee, R. Y.  et al. 2002	12082592				Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000211.2			CDC GDPinfo	3689	Hs.375957			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		600065	28644	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129092	Y	cardiovascular	CARDIOVASCULAR	CARD	Graft Occlusion, Vascular	17	17q21.32	ITGB3	42686206	42745076		Walter DH et al. 2001	11259146				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			European heart journal. 2001 Apr;22(7):587-95	Statin therapy is associated with reduced restenosis rates after coronary stent implantation in carriers of the Pl(A2)allele of the platelet glycoprotein IIIa gene.		173470	4109	1	2001	Statin therapy reduces increased stent restenosis rates and improves clinical outcome following coronary stent implantation in patients bearing the Pl(A2)allele, suggesting that statins interfere with the functional consequence of a genetically determined platelet-mediated risk factor associated with Pl(A2)polymorphism.											
129093	Y	premature myocardial infarction in men.	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Benze G et al. 2002	11812069	PlA1/A2			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			European heart journal. 2002 Feb;23(4):325-30	Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men.		173470	4110	1	2002	The GPIIIa Pl(A2)allele is not independently associated with the risk of premature myocardial infarction. The T(807)allele of the GPIa gene alone or in combination with the Pl(A2)allele had no major effect on premature myocardial infarction risk.	Control:138 healthy controls;Case:287 men who had their first myocardial infarction before age 45										
129088	Y	restenosis	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	21	21q22.3	ITGB2	45130296	45173181		Koch, W.  et al. 2001	11703955				Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000211.2			CDC GDPinfo	3689	Hs.375957			The American journal of cardiology. 2001 Nov;88(10):1120-4	Association of a CD18 gene polymorphism with a reduced risk of restenosis after coronary stenting		600065	12024	2	2001	Thus, the 1323T allele of the CD18 gene is associated, in a gene dose-dependent manner, with a lower incidence of angiographic restenosis after coronary stenting. This finding suggests that Mac-1 is involved in the development of restenosis after coronary stent placement.	Cohort 1,207 consecutive Caucasian patients with symptomatic coronary artery disease who underwent stent implantation in coronary arteries Munich, Germany 										
129089		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	21	21q22.3	ITGB2	45130296	45173181		Zee, R. Y.  et al. 2002	11935032				Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000211.2		United States	CDC GDPinfo	3689	Hs.375957			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):892-5	A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke.		600065	22666	2	2002	 In this large, prospective study, we found little evidence that the two previously described polymorphisms in the CD14 and CD18 genes are associated with risks of future stroke.	Case:338 study participants from the Physicians' Health Study who developed stroke										
129090		retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Genetic Predisposition to Disease	21	21q22.3	ITGB2	45130296	45173181		Warpeha, K. M.  et al. 2003	12724690				Integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000211.2			CDC GDPinfo	3689	Hs.375957			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		600065	27952	2	2003	Review article											
129085	Y	reduced risk of restenosis after coronary stenting	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	21	21q22.3	ITGB2	45130296	45173181		Koch W et al. 2001	11703955				integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)				KGB	3689	Hs.375957			The American journal of cardiology. 2001 Nov;88(10):1120-4	Association of a CD18 gene polymorphism with a reduced risk of restenosis after coronary stenting.		600065	4106	1	2001												
129086	Y	anti-myeloperoxidase subtypes of ANCA-associated systemic vasculitides	OTHER	OTH	Vasculitis	21	21q22.3	ITGB2	45130296	45173181		Gencik M et al. 2000	10607485				integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)				KGB	3689	Hs.375957			Clinical immunology (Orlando, Fla). 2000 Jan;94(1):12-Sep	The association of CD18 alleles with anti-myeloperoxidase subtypes of ANCA-associated systemic vasculitides.		600065	4107	1	2000												
129087		leukocyte adhesion deficiency	OTHER	OTH		21	21q22.3	ITGB2	45130296	45173181		Sligh JE Jr et al. 1992	1346132				integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)				KGB	3689	Hs.375957	moderate phenotype		The Journal of biological chemistry. 1992 Jan;267(2):714-8	An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.		600065	4108	1	1992												
129082		blood transfusion complications	CARDIOVASCULAR	CARD		10	10p11.2	ITGB1	33229325	33287204		Boehlen, F.  et al. 2003	14671618				Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002211.2			CDC GDPinfo	3688	Hs.295626			The hematology journal. 2003 ;4(6):441-4	HPA-genotyping and antiplatelet antibodies in female blood donors.		135630	25124	2	2003	Our study indicates the presence of platelet-specific antibodies in 2.5% of HPA-homozygous female platelet donors who were previously pregnant. Although none of the recipients developed passive alloimmune thrombocytopenia, this aspect of blood transfusion safety should be addressed by a large prospective trial.	Cohort 500/122 platelet donors (n=500) and women who experienced at least one pregnancy and who were homozygous for either HPA-1a, -1b, -3a, -3b, -5a or -5b 										
129083	N	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	21	21q22.3	ITGB2	45130296	45173181	n	Zee RY 2002	11935032	Codon 441			integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000211.2		United States	TJB	3689	Hs.375957			Stroke; a journal of cerebral circulation. 2002 Apr;33(4):892-5			600065	4104	1	2002	 In this large, prospective study, we found little evidence that the two previously described polymorphisms in the CD14 and CD18 genes are associated with risks of future stroke.	Case:338; Control:338										
129084		MPO-ANCA+ vasculitis	OTHER	OTH	Vasculitis|Genetic Predisposition to Disease	21	21q22.3	ITGB2	45130296	45173181		Meller S et al. 2001	11528520				integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)				KGB	3689	Hs.375957			Genes and immunity. 2001 Aug;2(5):269-72	Novel SNPs in the CD18 gene validate the association with MPO-ANCA+ vasculitis.		600065	4105	1	2001												
129079		gastric ulcer	OTHER	OTH	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	16	16p11.2	ITGAX	31274009	31301819		Hellmig, S.  et al. 2005	15730520				Integrin, alpha X (antigen CD11C (p150), alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000887.3			CDC GDPinfo	3687	Hs.248472			Tissue antigens. 2005 Mar;65(3):271-4	Haplotype analysis of the CD11 gene cluster in patients with chronic Helicobacter pylori infection and gastric ulcer disease.		151510	25122	2	2005	We conclude that  genetic variants in the CD11 cluster may play a role in the development of gastric ulcer in chronic H. pylori infection presumably by influencing leukocyte adhesion. The biological effect of genetic variants of CD11c in gastric inflammation needs further clarification.	Control:controls;Case:315 patients with H. pylori infection										
129080		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	10	10p11.2	ITGB1	33229325	33287204		Zotz, R. B.  et al. 2005	15978110				Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002211.2			CDC GDPinfo	3688	Hs.295626			Journal of thrombosis and haemostasis. 2005 Jul;3(7):1522-9	Association of polymorphisms of platelet membrane integrins alpha IIb(beta)3 (HPA-1b/Pl) and alpha2(beta)1 (alpha807TT) with premature myocardial infarction.		135630	12023	2	2005			blood pressure cholesterol diabetes fibrinogen smoking (tobacco)									
129081		myocardial infarction; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Myocardial Infarction	10	10p11.2	ITGB1	33229325	33287204		Chen, F.  et al. 2000	11776052				Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002211.2	Chinese		CDC GDPinfo	3688	Hs.295626			Chinese medical journal. 2000 Aug;113(8):702-5	Polymorphism of human platelet alloantigen in Chinese patients with acute myocardial infarction and acute ischemic stroke.		135630	25123	2	2000	 Polymorphism of HPA were not inherited risky factors and not associated with chinese arterial thrombotic diseases such as AMI and AIS.	Case:188 acute ischemic stroke cases;Control:270 normal controls;Case:95 acute myocardial infarction cases										
129076		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	16	16p11.2	ITGAL	30391571	30442007		Frenzel H et al. 2002	11862384				integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002209			KGB	3683	Hs.174103			Immunogenetics. 2002 Feb;53(11-Oct):835-42	Mutation detection and physical mapping of the CD11 gene cluster in association with inflammatory bowel disease.		153370	4103	1	2002												
129077		gastric ulcer	OTHER	OTH	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	16	16p11.2	ITGAL	30391571	30442007		Hellmig, S.  et al. 2005	15730520				Integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002209.1			CDC GDPinfo	3683	Hs.174103			Tissue antigens. 2005 Mar;65(3):271-4	Haplotype analysis of the CD11 gene cluster in patients with chronic Helicobacter pylori infection and gastric ulcer disease.		153370	17866	2	2005	We conclude that  genetic variants in the CD11 cluster may play a role in the development of gastric ulcer in chronic H. pylori infection presumably by influencing leukocyte adhesion. The biological effect of genetic variants of CD11c in gastric inflammation needs further clarification.	Control:controls;Case:315 patients with H. pylori infection										
129078		gastric ulcer	OTHER	OTH	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	16	16p11.2	ITGAM	31178788	31251714		Hellmig, S.  et al. 2005	15730520				Integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000632.3			CDC GDPinfo	3684	Hs.172631			Tissue antigens. 2005 Mar;65(3):271-4	Haplotype analysis of the CD11 gene cluster in patients with chronic Helicobacter pylori infection and gastric ulcer disease.		120980	22665	2	2005	We conclude that  genetic variants in the CD11 cluster may play a role in the development of gastric ulcer in chronic H. pylori infection presumably by influencing leukocyte adhesion. The biological effect of genetic variants of CD11c in gastric inflammation needs further clarification.	Control:controls;Case:315 patients with H. pylori infection										
129073		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	17	17q21.33	ITGA3	45488729	45522843		Hefler, L.  et al. 2004	14706682				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1			CDC GDPinfo	3675	Hs.265829			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		605025	27951	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
129074		graft-versus-host disease; bone marrow transplantation	IMMUNE	IMM	Graft vs Host Disease	2	2q31-q32	ITGA4	182029863	182110713		Heymann, G. A.  et al. 2004	15257952				Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000885.4			CDC GDPinfo	3676	Hs.440955			Haematologica. 2004 Jul;89(7):882-4	Polymorphism of the alpha4-subunit of VLA-4 integrin and bone marrow transplantation.		192975	12021	2	2004	None of the constellations of variants influenced the outcome, as determined by the recovery of leukocytes or platelets, hospitalization time, and the development of graft-versus-host disease.	Cohort 37 patients undergoing allogeneic bone marrow transplantation 										
129075		stroke, ischemic	CARDIOVASCULAR	CARD		2	2q31-q32	ITGA4	182029863	182110713		Heymann, G. A.  et al. 2003	12686501				Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000885.4			CDC GDPinfo	3676	Hs.440955			Molecular immunology. 2003 May;39(14):855-60	Frequencies of alpha4 A3061G variants and identification of three new variants of the human integrin alpha4-subunit.		192975	17865	2	2003	None of these variants led to amino acid (AA) substitutions. Interestingly, homozygosity of the new variant 269A was not found.	Cohort 252 healthy blood donors 										
129070		angina	CARDIOVASCULAR	CARD	Angina, Unstable	17	17q21.33	ITGA3	45488729	45522843		Yongbin, N.  et al. 2004	15346842				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1	Chinese		CDC GDPinfo	3675	Hs.265829			Clinical cardiology. 2004 Aug;27(8):455-8	Association of genetic polymorphisms in the fibrinogen and platelet glycoprotein genes with unstable angina in Chinese patients		605025	26334	2	2004	 Chinese patients with UA had increased frequencies of GP Ib alpha C/B genotype and Bbeta fibrinogen 448A allele. These data suggest that some genetic factors may influence the development of UA.	Case:69 Chinese patients (43 men, 26 women) with unstable:angina;Control:69 control subjects without coronary artery disease										
129071		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	17	17q21.33	ITGA3	45488729	45522843		Rudack, C.  et al. 2004	15109703				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1			CDC GDPinfo	3675	Hs.265829			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		605025	26335	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
129072	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.33	ITGA3	45488729	45522843			12615788				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1			CDC GDPinfo	3675	Hs.265829			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		605025	27777	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
129067		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	17	17q21.33	ITGA3	45488729	45522843		Ayala F 2003	12908817	T1565C			Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1		Spain	KGB	3675	Hs.265829			Breast cancer research and treatment. 2003 Jul;80(2):145-54	Genetic polymorphisms of platelet adhesive molecules: association with breast cancer risk and clinical presentation.		605025	4102	1	2003												
129068		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Artery Disease|Myocardial Infarction	17	17q21.33	ITGA3	45488729	45522843		Lopes, N. H.  et al. 2004	15194015				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1			CDC GDPinfo	3675	Hs.265829			The American journal of cardiology. 2004 Jun;93(12):1469-72	Effect of glycoprotein IIIa PlA2 polymorphism on outcome of patients with stable coronary artery disease and effect of smoking.		605025	12019	2	2004	Thus, taken together, these data provide support for the interaction effect between smoking and the Pl(A1) gene variant. Smokers with the Pl(A2) polymorphism of platelet glycoprotein IIIa are at greater risk for subsequent cardiac events in stable coronary disease.	Cohort 592 patients enrolled in the Medical, Angioplasty, or Surgery Study II, a randomized trial comparing treatments for patients with CAD and preserved left ventricular function 	smoking (tobacco)									
129069	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Arterial Occlusive Diseases|Thrombosis|Thrombophilia	17	17q21.33	ITGA3	45488729	45522843		Yeh, P. S.  et al. 2004	15351855				Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002204.1		Taiwan	CDC GDPinfo	3675	Hs.265829			Thrombosis and haemostasis. 2004 Sep;92(3):583-9	Prognosis of young ischemic stroke in Taiwan:impact of prothrombotic genetic polymorphisms		605025	22664	2	2004	Our data indicate that the prothrombotic genetic polymorphisms do not have a significant influence on the prognosis in young ischemic stroke due to arterial occlusion or undetermined causes in Taiwan.	Cohort 231 patients younger than 50 years (mean age 44.6 years, range 25 to 49 years) with acute ischemic stroke due to large artery atherosclerosis (n=90), small artery occlusion (n=114) or undetermined cause (n=27) Taiwan 										
129064		atherosclerosis, coronary	CARDIOVASCULAR	CARD		17	17q21.32	ITGA2B	39805075	39822399		Ortlepp, J. R.  et al. 2002	12446192				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		607759	28164	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
129065		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Adams, G. T.  et al. 2003	12871600				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		607759	28340	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
129066		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	17	17q21.32	ITGA2B	39805075	39822399		Navarro-Lopez, F.   2002	11975906				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		607759	28520	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
129061		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	17	17q21.32	ITGA2B	39805075	39822399		Carlsson, L. E.  et al. 2003	12724616				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		607759	27058	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
129062		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399			16324093				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3		Italy	CDC GDPinfo	3674	Hs.411312			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		607759	27524	2	2005												
129063		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q21.32	ITGA2B	39805075	39822399		Pallaud, C.  et al. 2001	11575217				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	French		CDC GDPinfo	3674	Hs.411312			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		607759	27776	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
129058		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Falchi, A.  et al. 2005	16248996				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	Corsica	France	CDC GDPinfo	3674	Hs.411312			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		607759	25120	2	2005												
129059		thrombus formation, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Cadroy, Y.  et al. 2001	11698306				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Blood. 2001 Nov;98(10):3159-61	Role of 4 platelet membrane glycoprotein polymorphisms on experimental arterial thrombus formation in men		607759	25121	2	2001	platelet thrombus formation is significantly influenced by genetic variations of the GPIbalpha and GPIa receptors. The effect of these polymorphisms was dependent on the blood flow rate.	Cohort 40 healthy male volunteers randomly recruited 										
129060	Y	pregnancy loss, recurrent; fetal loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia|Recurrence	17	17q21.32	ITGA2B	39805075	39822399		Gerhardt, A.  et al. 2005	15630502				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Thrombosis and haemostasis. 2005 Jan;93(1):124-9	The polymorphism of platelet membrane integrin alpha2beta1 (alpha2807TT) is associated with premature onset of fetal loss.		607759	26333	2	2005	This study demonstrates a significant association of the alpha(2)807TT genotype of the platelet membrane integrin alpha(2)beta(1) with premature onset of early fetal loss. It appears that this risk factor does not induce the pathomechanism, but modulates the course of fetal loss. Furthermore, our study confirms the association of FVL with late fetal loss.	Case:104 women with fetal loss, including women with recurrent early fetal loss (n=34);Control:277 normal women										
129055		metabolism disorders; myocardial infarction; stroke, ischemic	METABOLIC	MET		17	17q21.32	ITGA2B	39805075	39822399		Bennett, J.  et al. 2002	12071877				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	Australian		CDC GDPinfo	3674	Hs.411312			Transfusion medicine (Oxford, England). 2002 Jun;12(3):199-203	Gene frequencies of human platelet antigens 1-5 in indigenous Australians in Western Australia.		607759	22661	2	2002	These results indicate a higher potential risk of alloimmunization to HPA-1, -2 and -3 in Australian Aborigines receiving transfusion therapy from a Caucasian blood donor population, thereby having practical implications for transfusion and pregnancy risks in people of Aboriginal origin.	Cohort 185/1000 indigenous Australians (n=185) and Western Australian blood donors (n=1000) 										
129056		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD	Thrombocytopenia	17	17q21.32	ITGA2B	39805075	39822399		Higgins, M.  et al. 2004	15355503				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Vox sanguinis. 2004 Aug;87(2):114-7	High-throughput genotyping of human platelet antigens using the 5'-nuclease assay and minor groove binder probe technology.		607759	22662	2	2004	 Genotyping for HPA-1, -2, -3, -5, and -15 by the 5'-NA is suitable for routine analysis. The latest 5'-NA design, using MGB probe technology, ensures superior detection of all alleles and is the most versatile fluorescent assay, ideal for both urgent clinical samples and large-scale screening programs.	Cohort 100 blood samples tested for HPA genotypes 1, 2, 3 and 5 by our traditional sequence-specific primer-polymerase chain reaction (SSP-PCR) method Cohort 41 blood samples tested for HPA-15 by SSP-PCR 										
129057		myocardial infarction; stroke	CARDIOVASCULAR	CARD		17	17q21.32	ITGA2B	39805075	39822399		Bugert, P.  et al. 2005	15847651				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Transfusion. 2005 May;45(5):654-9	Microarray-based genotyping for blood groups:comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model.		607759	22663	2	2005	 The data presented here validate the use of microarray for large-scale SNP typing for clinically relevant blood group alloantigens.	Cohort 71 blinded DNA samples 										
129052		blood transfusion complications	CARDIOVASCULAR	CARD		17	17q21.32	ITGA2B	39805075	39822399		Boehlen, F.  et al. 2003	14671618				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			The hematology journal. 2003 ;4(6):441-4	HPA-genotyping and antiplatelet antibodies in female blood donors.		607759	22658	2	2003	Our study indicates the presence of platelet-specific antibodies in 2.5% of HPA-homozygous female platelet donors who were previously pregnant. Although none of the recipients developed passive alloimmune thrombocytopenia, this aspect of blood transfusion safety should be addressed by a large prospective trial.	Cohort 500/122 platelet donors (n=500) and women who experienced at least one pregnancy and who were homozygous for either HPA-1a, -1b, -3a, -3b, -5a or -5b 										
129053		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Park, S.  et al. 2004	15227729				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	Korean	Korea	CDC GDPinfo	3674	Hs.411312			Yonsei medical journal. 2004 Jun;45(3):428-34	Association of the gene polymorphisms of platelet glycoprotein Ia and IIb/IIIa with myocardial infarction and extent of coronary artery disease in the Korean population.		607759	22659	2	2004	Conclusively, HPA-3 polymorphism was associated with MI in Korean individuals younger than 56 years of age, but other polymorphisms of GP, which we studied, were not associated with both the extent of coronary atherosclerosis or MI.	Cohort 1,073 Korean subjects who underwent coronary angiography 										
129054		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD		17	17q21.32	ITGA2B	39805075	39822399		Halle, L.  et al. 2005	15730528				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	sub-Saharan African		CDC GDPinfo	3674	Hs.411312			Tissue antigens. 2005 Mar;65(3):295-8	HPA polymorphism in sub-Saharan African populations: Beninese, Cameroonians, Congolese, andPygmies.		607759	22660	2	2005	This study is of great importance (i) particularly in the context of the diversity caused by the population migrations, we may observe today in our hospitals (ii) to confirm that the Pygmy population with distinctive frequencies (absence of the HPA-1b, HPA-2b, and HPA-5b highest frequencies) is an isolated population.	Cohort 										
129049		lymphoproliferative disorders; blood transfusion complications	OTHER	OTH		17	17q21.32	ITGA2B	39805075	39822399		Jones, D. C.  et al. 2003	14675395				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			European journal of immunogenetics. 2003 Dec;30(6):415-9	Human platelet alloantigens (HPAs): PCR-SSPgenotyping of a UK population for 15 HPA alleles.		607759	22655	2	2003	This comprehensive HPA genotyping assay allows rapid, accurate and reproducible results at low cost.	Cohort 134 renal donors UK 										
129050	N	nephropathy	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	17	17q21.32	ITGA2B	39805075	39822399		Tsai, D. H.  et al. 2001	11728949				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			American journal of kidney diseases. 2001 Dec;38(6):1185-90	Platelet Collagen Receptor alpha2beta1 Integrin and Glycoprotein IIIa Pl(A1/A2) Polymorphisms Are Not Associated With Nephropathy in Type 2 Diabetes		607759	22656	2	2001	In conclusion, age, duration of diabetes, BMI, and HbA(1c) level are strong predictors for nephropathy in patients with type 2 diabetes. However, the Bgl II polymorphism of the alpha2beta1 integrin gene and the Apa I polymorphism of the platelet GPIIIa gene do not have a major role in the development of diabetic nephropathy in our population.	Control:217 nondiabetic healthy subjects;Case:234 subjects with type 2 diabetes (126 patients with and 108 patients without diabetic nephropathy)										
129051		myocardial infarction; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Myocardial Infarction	17	17q21.32	ITGA2B	39805075	39822399		Chen, F.  et al. 2000	11776052				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	Chinese		CDC GDPinfo	3674	Hs.411312			Chinese medical journal. 2000 Aug;113(8):702-5	Polymorphism of human platelet alloantigen in Chinese patients with acute myocardial infarction and acute ischemic stroke.		607759	22657	2	2000	 Polymorphism of HPA were not inherited risky factors and not associated with chinese arterial thrombotic diseases such as AMI and AIS.	Case:188 acute ischemic stroke cases;Control:270 normal controls;Case:95 acute myocardial infarction cases										
129046	Y	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Petrovic, M. G.  et al. 2003	12938014				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	Caucasian	Slovenia	CDC GDPinfo	3674	Hs.411312			Journal of human genetics. 2003 ;48(9):457-60	BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes		607759	12016	2	2003	The present study demonstrates that the BglII (+/+) genotype of the gene polymorphism of the alpha2beta1 integrin gene is an independent risk	Case:163 subjects with type 2 diabetes and diabetic:retinopathy;Control:95 diabetic subjects without diabetic retinopathy										
129047		ischemia; myocardial infarction; stroke; revascularization, urgent	CARDIOVASCULAR	CARD	Myocardial Ischemia|Angina, Unstable|Myocardial Infarction|Hemorrhage	17	17q21.32	ITGA2B	39805075	39822399		O'Connor, F. F.  et al. 2001	11719362				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Blood. 2001 Dec;98(12):3256-60	Genetic variation in glycoprotein IIb/IIIa (GPIIb/IIIa) as a determinant of the responses to an oral GPIIb/IIIa antagonist in patients with unstable coronary syndromes		607759	17864	2	2001	In contrast, there was no evidence that Pl(A2) influenced the rate of recurrent events in placebo-treated patients. In patients presenting with an acute coronary syndrome, the Pl(A) polymorphism of GPIIb/IIIa may explain some of the variance in the response to an oral GPIIb/IIIa antagonist.	Cohort 1014 patients recruited into the OPUS-TIMI-16 (orbofiban in patients with unstable coronary syndromes-thrombolysis in myocardial infarction 16) trial, in which patients were randomized to low- or high-dose orbofiban or placebo for 1 year. 	oral GPIIb/IIIa antagonist (orbofiban)									
129048		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension	17	17q21.32	ITGA2B	39805075	39822399		Meiklejohn, D. J.  et al. 2001	11260063				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			British journal of haematology. 2001 Mar;112(3):621-31	In vivo platelet activation in atherothrombotic stroke is not determined by polymorphisms of human platelet glycoprotein IIIa or Ib		607759	22654	2	2001	These data suggest an underlying prothrombotic state, but do not support the polymorphisms studied as risk factors for thrombotic stroke in this population.	Control matched controls;Case:150 patients with atherothrombotic stroke										
129043	Y	myocardial injury	CARDIOVASCULAR	CARD	Thrombosis|Postoperative Complications	17	17q21.32	ITGA2B	39805075	39822399		Rinder, C. S.  et al. 2002	12411794				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Anesthesiology. 2002 Nov;97(5):1118-22	Platelet PlA2 polymorphism and platelet activation are associated with increased troponin I release after cardiopulmonary bypass.		607759	12013	2	2002	 The PlA2 allele of platelet glycoprotein IIIa is associated with higher troponin I concentrations following cardiopulmonary bypass surgery, suggesting that this platelet polymorphism contributes to perioperative myocardial injury.	Cohort 66 patients undergoing elective coronary artery bypass grafting requiring cardiopulmonary bypass 										
129045	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	17	17q21.32	ITGA2B	39805075	39822399		Cole, V. J.  et al. 2003	12871362				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Journal of thrombosis and haemostasis. 2003 May;1(5):963-70	Collagen platelet receptor polymorphisms integrin alpha2beta1 C807T and GPVI Q317L and risk of ischemic stroke.		607759	12015	2	2003	Our results do not support a role for the integrin alpha2 C807T and GPVI Q317L polymorphisms in the development of first-ever ischemic stroke. However, larger studies are required to confirm this.	Control:172:controls;Case:180 stroke patients										
129040		coronary heart disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Cerebrovascular Accident	17	17q21.32	ITGA2B	39805075	39822399		Pongracz, E.  et al. 2001	11367863	(LeuPro 33)			Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Orvosi hetilap. 2001 Apr;142(15):781-5	[Platelet glycoprotein IIb/IIIa (LeuPro 33) polymorphism in stroke patients]		607759	12010	2	2001	PLA variant together with prothrombin gene polymorphism results very high risk for stroke.	Control:173 unrelated healthy donors;Case:234 stroke patients:Hungary										
129041		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGA2B	39805075	39822399		Auguadro, C.  et al. 2002	11918133				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Acta cardiologica. 2002 Feb;57(1):32-3	GPIIb/IIIa polymorphism in patients with myocardial infarction		607759	12011	2	2002	This finding seems to support the hypothesis of a real role of this polymorphism in the risk of events in patients with CAD	Case:164 consecutive unselected patients admitted to the CCU for acute MI;Control:81 controls without evidence of heart disease										
129042		hematology indices	HEMATOLOGICAL	HEM		17	17q21.32	ITGA2B	39805075	39822399		Rozalski, M.  et al. 2002	12408998				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			European journal of pharmacology. 2002 Nov;454(1):8-Jan	Antagonists of platelet fibrinogen receptor are less effective in carriers of Pl(A2) polymorphism of beta(3) integrin.		607759	12012	2	2002	In conclusion, GPIIb-IIIa blockers representing various classes are less effective inhibitors of platelet aggregation in Pl(A2)(+) carriers; however, the effect of the genotype is both agonist- and antagonist-dependent.	Cohort 58 healthy donors 										
129037		coronary artery disease; myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Disease|Myocardial Infarction	17	17q21.32	ITGA2B	39805075	39822399		Kroll, H.  et al. 2001	11204574	T2622G			Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Thrombosis and haemostasis. 2001 Jan;85(1):182-3	The role of the glycoprotein IIb fibrinogen receptor subunit T2622G gene polymorphism (HPA-3) on coronary artery disease and acute myocardial infarction.		607759	12007	2	2001	We conclude that the GP IIb T2622G dimorphism has neither a major influence on the risk and degree of CAD nor on the risk of AMI.	Case:1374 Caucasian men who had undergone angiography										
129039		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease|Recurrence	17	17q21.32	ITGA2B	39805075	39822399		Di Castelnuovo, A.  et al. 2001	11341496				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Thrombosis and haemostasis. 2001 Apr;85(4):626-33	Platelet glycoprotein receptor IIIa polymorphism PLA1/PLA2 and coronary risk: a meta-analysis.		607759	12009	2	2001	The association of PLA2 status with overall cardiovascular disease in the general population is significant but weak; higher risk has been identified in less heterogeneous subgroups as in the younger cohorts and in the restenosis subset with stents.	Control:12508:controls;Case:9095 cases of coronary artery disease										
129033		systemic lupus erythematosus	IMMUNE	IMM	Raynaud Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q21.32	ITGA2B	39805075	39822399		Tolusso B 2003	12860739				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			KGB	3674	Hs.411312			Annals of the rheumatic diseases. 2003 Aug;62(8):781-2	Platelet GPIIb/IIIa (P1A 1/2) polymorphism in SLE: clinical and laboratory association.		607759	4098	1	2003												
129035	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGA2B	39805075	39822399		Senti M et al. 1998	9876897				integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419			KGB	3674	Hs.411312			Clin Biochem	Platelet glycoprotein IIb/IIIa genetic polymorphism is associated with plasma fibrinogen levels in myocardial infarction patients. The REGICOR Investigators.		607759	4100	1	1998												
129036	Y	deletion-insertion and alternative splicing	OTHER	OTH	Thrombasthenia	17	17q21.32	ITGA2B	39805075	39822399		Peretz H et al. 1995	7529063			splice variant	: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419			KGB	3674	Hs.411312			Blood	Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.		607759	4101	1	1995												
129030		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Adams, G. T.  et al. 2003	12871600				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		192974	28292	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
129031		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	5	5q23-q31	ITGA2	52320912	52426366		Navarro-Lopez, F.   2002	11975906				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		192974	28503	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
129032		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	5	5q23-q31	ITGA2	52320912	52426366		Zee, R. Y.  et al. 2002	12082592				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		192974	28640	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129027	Y	bleeding complications	METABOLIC	MET	Hemorrhage|Postoperative Complications	5	5q23-q31	ITGA2	52320912	52426366		Welsby, I. J.  et al. 2005	15892865				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Journal of thrombosis and haemostasis. 2005 Jun;3(6):1206-12	Genetic factors contribute to bleeding after cardiac surgery.		192974	27056	2	2005	 We identified seven genetic polymorphisms associated with bleeding after cardiac surgery. Genetic factors appear primarily independent of, and explain at least as much variation in bleeding as clinical covariates; combining genetic and clinical factors double our ability to predict bleeding after cardiac surgery. Accounting for genotype may be necessary when stratifying risk of bleeding after cardiac surgery.	Cohort 780 patients undergoing aortocoronary surgery with cardiopulmonary bypass 										
129028		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	5	5q23-q31	ITGA2	52320912	52426366		Shields, D. C.  et al. 2002	12082590				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		192974	27057	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
129029	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366			12615788				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		192974	27523	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
129024		longevity	CARDIOVASCULAR	CARD	Vascular Diseases	5	5q23-q31	ITGA2	52320912	52426366		Hessner, M. J.  et al. 2001	11568114				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		192974	26331	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
129025		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	5	5q23-q31	ITGA2	52320912	52426366		Carlsson, L. E.  et al. 2003	12724616				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		192974	26332	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
129026		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	5	5q23-q31	ITGA2	52320912	52426366		Weger, M.  et al. 2005	16157382				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		192974	27055	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
129021		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion	5	5q23-q31	ITGA2	52320912	52426366		Dodson, P. M.  et al. 2003	12928694				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Eye (London, England). 2003 Aug;17(6):772-7	The platelet glycoprotein Ia/IIa gene polymorphism C807T/G873A: a novel risk factor for retinal veinocclusion.		192974	25117	2	2003	These results suggest a major role for GpIa/IIa polymorphisms in the pathogenesis of RVO.	Case patients with retinal vasular occlusion;Control:controls										
129022		preeclampsia; hypertension, gestational	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Hematologic|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Morrison, E. R.  et al. 2002	12038776				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Thrombosis and haemostasis. 2002 May;87(5):779-85	Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: resultsfrom a large population-based study and systematic review.		192974	25118	2	2002	We conclude that  these prothrombotic genotypes are not associated with the development of PE or GH in our population. The systematic review supports our conclusion, for all but cases of severe disease. which appear to be associated with FVL and, to a lesser extent, MTHFR C677T. There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension.	Control:303/164 women with gestational hypertension (n=303), and control women (n=164);Case:404 women who developed preeclampsia										
129023		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Kakko, S.  et al. 2002	12486862				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			European journal of clinical investigation. 2002 Sep;32(9):643-8	Polymorphisms of genes affecting thrombosis and risk of myocardial infarction.		192974	25119	2	2002	 The L34 allele of the amino acid polymorphism of the FXIII gene is associated with a decreased risk of AMI, and this protecting association seems to be more pronounced in smokers.	Case:142 acute myocardial infaction survivors;Control:142 age- and sex-matched control subjects	smoking (tobacco)									
129018		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	5	5q23-q31	ITGA2	52320912	52426366		Chen, C. H.  et al. 2004	15546585				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Taiwanese	Taiwan	CDC GDPinfo	3673	Hs.591770			Journal of the neurological sciences. 2004 Dec;227(1):5-Jan	Platelet glycoprotein Ia C807T, Ib C3550T, and IIIa Pl(A1/A2) polymorphisms and ischemic stroke in young Taiwanese.		192974	22652	2	2004	In conclusion, platelet GP Ia C807T and GP Ib C3550T polymorphisms in our population are less common compared with Caucasians, and GP IIIa Pl(A1/A2) genetic mutation is not found, and all of them are not associated with ischemic stroke in young Taiwanese.	Case:157 Taiwanese young ischemic stroke patients:Sep, 2001 - Mar, 2003;Control:157 age- and sexmatched controls										
129019		bone marrow transplantation	IMMUNE	IMM		5	5q23-q31	ITGA2	52320912	52426366		Kotzampasaki, E. M.  et al. 2004	15350465				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Transplantation proceedings. 2004 Jul-Aug;36(6):1735-8	Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation		192974	22653	2	2004	These results provide insight into the polymorphism of mH antigens based on the study of their frequencies in bone marrow transplant recipients and their genetically HLA-identical siblings, an endeavor that is essential to investigate the presence of HA-1 and HPA-5 mHags.	Cohort 39 bone marrow transplant recipients, different from the abovementioned ones, and their HLA-identical siblings Cohort 49 bone marrow transplant recipients and their genetically related HLA-identical donors 										
129020		pregnancy loss, recurrent; fetal loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia|Recurrence	5	5q23-q31	ITGA2	52320912	52426366		Gerhardt, A.  et al. 2005	15630502				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Thrombosis and haemostasis. 2005 Jan;93(1):124-9	The polymorphism of platelet membrane integrin alpha2beta1 (alpha2807TT) is associated with premature onset of fetal loss.		192974	25116	2	2005	This study demonstrates a significant association of the alpha(2)807TT genotype of the platelet membrane integrin alpha(2)beta(1) with premature onset of early fetal loss. It appears that this risk factor does not induce the pathomechanism, but modulates the course of fetal loss. Furthermore, our study confirms the association of FVL with late fetal loss.	Case:104 women with fetal loss, including women with recurrent early fetal loss (n=34);Control:277 normal women										
129015		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Rosenberg, N.  et al. 2002	12073410				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			The Israel Medical Association journal. 2002 Jun;4(6):411-4	Effects of platelet membrane glycoprotein polymorphisms on the risk of myocardial infarction in young males.		192974	22649	2	2002	 The platelet glycoproteins polymorphisms studied are not an independent risk factor for AMI.	Case:100 young males with first AMI before the age of 53;Control:119 healthy controls of similar age										
129016		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Iniesta, J. A.  et al. 2003	12499711				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Spain	CDC GDPinfo	3673	Hs.591770			Cerebrovascular diseases (Basel, Switzerland). 2003 ;15(2-Jan):51-5	Polymorphisms of platelet adhesive receptors: dothey play a role in primary intracerebral hemorrhage?		192974	22650	2	2003	 Our results suggest that these polymorphisms play a minor role in PIH.	Case:141 Caucasian patients diagnosed of primary intracerebral hemorrhage;Control:141/446 race-, age-, sex- and risk factor-matched controls (n=141) and general population controls (n=446)										
129017		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Anemia, Sickle Cell	5	5q23-q31	ITGA2	52320912	52426366		Castro, V.  et al. 2004	15355504				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Vox sanguinis. 2004 Aug;87(2):118-23	Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia.		192974	22651	2	2004	 The findings of this study suggest that the HPA-5b allele is a genetic risk factor for the development of OVC in patients with SCA. This allele could be explored as a target for the development of new therapeutic approaches.	Cohort 97 patients with sickle cell anemia 										
129012		blood transfusion complications	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		Boehlen, F.  et al. 2003	14671618				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			The hematology journal. 2003 ;4(6):441-4	HPA-genotyping and antiplatelet antibodies in female blood donors.		192974	17867	2	2003	Our study indicates the presence of platelet-specific antibodies in 2.5% of HPA-homozygous female platelet donors who were previously pregnant. Although none of the recipients developed passive alloimmune thrombocytopenia, this aspect of blood transfusion safety should be addressed by a large prospective trial.	Cohort 500/122 platelet donors (n=500) and women who experienced at least one pregnancy and who were homozygous for either HPA-1a, -1b, -3a, -3b, -5a or -5b 										
129013		heart disease, ischemic; myocardial infarction; sudden cardiac death	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		DI Paola, J.  et al. 2005	15978109				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Journal of thrombosis and haemostasis. 2005 Jul;3(7):1511-21	Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkagedisequilibrium in a population diversity panel.		192974	22647	2	2005												
129014		thrombus formation, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Cadroy, Y.  et al. 2001	11698306				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Blood. 2001 Nov;98(10):3159-61	Role of 4 platelet membrane glycoprotein polymorphisms on experimental arterial thrombus formation in men		192974	22648	2	2001	platelet thrombus formation is significantly influenced by genetic variations of the GPIbalpha and GPIa receptors. The effect of these polymorphisms was dependent on the blood flow rate.	Cohort 40 healthy male volunteers randomly recruited 										
129009		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD	Thrombocytopenia	5	5q23-q31	ITGA2	52320912	52426366		Higgins, M.  et al. 2004	15355503				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Vox sanguinis. 2004 Aug;87(2):114-7	High-throughput genotyping of human platelet antigens using the 5'-nuclease assay and minor groove binder probe technology.		192974	17860	2	2004	 Genotyping for HPA-1, -2, -3, -5, and -15 by the 5'-NA is suitable for routine analysis. The latest 5'-NA design, using MGB probe technology, ensures superior detection of all alleles and is the most versatile fluorescent assay, ideal for both urgent clinical samples and large-scale screening programs.	Cohort 100 blood samples tested for HPA genotypes 1, 2, 3 and 5 by our traditional sequence-specific primer-polymerase chain reaction (SSP-PCR) method Cohort 41 blood samples tested for HPA-15 by SSP-PCR 										
129010		myocardial infarction; stroke	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		Bugert, P.  et al. 2005	15847651				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Transfusion. 2005 May;45(5):654-9	Microarray-based genotyping for blood groups:comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model.		192974	17861	2	2005	 The data presented here validate the use of microarray for large-scale SNP typing for clinically relevant blood group alloantigens.	Cohort 71 blinded DNA samples 										
129011	N	myocardial infarct; cholesterol, HDL	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Komurcu, E.  et al. 2005	16140647				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Turkey	CDC GDPinfo	3673	Hs.591770			Anadolu kardiyoloji dergisi. 2005 Sep;5(3):182-6	Glycoprotein Ia 807TT/873AA genotype is not associated with myocardial infarction.		192974	17863	2	2005	 The 807TT/873AA genotype of the GPIa gene alone or in combination with risk factors had no major effect on MI, however, it appears to be associated with higher HDL-cholesterol levels in healthy subjects.		blood pressure body mass diabetes smoking(									
129007		metabolism disorders; myocardial infarction; stroke, ischemic	METABOLIC	MET		5	5q23-q31	ITGA2	52320912	52426366		Bennett, J.  et al. 2002	12071877				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Australian		CDC GDPinfo	3673	Hs.591770			Transfusion medicine (Oxford, England). 2002 Jun;12(3):199-203	Gene frequencies of human platelet antigens 1-5 in indigenous Australians in Western Australia.		192974	17858	2	2002	These results indicate a higher potential risk of alloimmunization to HPA-1, -2 and -3 in Australian Aborigines receiving transfusion therapy from a Caucasian blood donor population, thereby having practical implications for transfusion and pregnancy risks in people of Aboriginal origin.	Cohort 185/1000 indigenous Australians (n=185) and Western Australian blood donors (n=1000) 										
129008	N	myocardial infarction; sudden cardiac death	OTHER	OTH	Death, Sudden, Cardiac|Coronary Thrombosis|Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Mikkelsson, J.  et al. 2002	12208476				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Finland	CDC GDPinfo	3673	Hs.591770			Atherosclerosis. 2002 Nov;165(1):111-8	Platelet collagen receptor GPIa (C807T/HPA-5) haplotype is not associated with an increased risk of fatal coronary events in middle-aged men.		192974	17859	2	2002	Our results do not support an effect of the GPIa haplotype on fatal coronary events among middle-aged men.	Control:328 autopsied middle-aged Caucasian Finnish men who died of non-cardiac related illneses University of Helsinki, Finland  1981-1982 or 1991-1992;Case:372 sudden cardiac death victims (n=288) and men with fatal acute myocardial infarction (n=84) University of Helsinki, Finland  1981-1982 or 1991-1992										
129004	N	thrombosis	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366			16380674				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Neuro endocrinology letters. 2005 Dec;26(6):789-94	Polymorphism of the glycoprotein Ia and IIIa in the group of women in childbirth does not correlate with an increased risk of developing thrombosis		192974	12006	2	2005	 Our results did not show the causative relationship between the existence of platelets GP IIIa/GP Ia mutations and venous system thrombosis in the women in labor. Probably presence of pro-thrombotic mutations of platelets glycoprotein in this group of patients does not represent the increased risk of thrombosis.											
129005		myocardial infarction; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Chen, F.  et al. 2000	11776052				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Chinese		CDC GDPinfo	3673	Hs.591770			Chinese medical journal. 2000 Aug;113(8):702-5	Polymorphism of human platelet alloantigen in Chinese patients with acute myocardial infarction and acute ischemic stroke.		192974	12022	2	2000	 Polymorphism of HPA were not inherited risky factors and not associated with chinese arterial thrombotic diseases such as AMI and AIS.	Case:188 acute ischemic stroke cases;Control:270 normal controls;Case:95 acute myocardial infarction cases										
129006		myocardial infarction; sudden cardiac death	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		Komurcu, E.  et al. 2002	11835340				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Turkish		CDC GDPinfo	3673	Hs.591770			American journal of hematology. 2002 Jan;69(1):83-4	Platelet glycoprotein Ia 807C/T (Phe224) and 873G/A (Thr246) dimorphisms in Turkey.		192974	17856	2	2002	The allelic frequencies were found to be 34% for 807T/873A and 66% for 807C/873G; the genotypic frequencies were 13% for 807TT/873AA, 44% for 807CT/873GA, and 43% for 807CC/873GG.	Cohort 118 unrelated individuals 										
129001		platelet aggregation	HEMATOLOGICAL	HEM	Coronary Disease	5	5q23-q31	ITGA2	52320912	52426366		Angiolillo, D. J.  et al. 2005	16214444				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			The American journal of cardiology. 2005 Oct;96(8):1095-9	Variability in platelet aggregation following sustained aspirin and clopidogrel treatment in patients with coronary heart disease and influence of the 807 C/T polymorphism of the glycoprotein Ia gene.		192974	12003	2	2005												
129002		gingival overgrowth, drug induced	UNKNOWN	UNK	Gingival Overgrowth	5	5q23-q31	ITGA2	52320912	52426366		Ogino, M.  et al. 2005	16304451	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Journal of dental research. 2005 Dec;84(12):1183-6	{alpha}2 Integrin +807 Polymorphism in Drug-induced Gingival Overgrowth.		192974	12004	2	2005												
129003		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366			16317580				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Breast cancer research and treatment. 2005	Integrin alpha-2 and beta-3 gene polymorphisms and breast cancer risk		192974	12005	2	2005	We conclude that  functional polymorphisms in integrin genes ITGA2 and ITGB3 influence the development and progression of breast cancer, respectively. The precise mechanism remains to be determined, but likely involves dysregulated signaling pathways.											
128998	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Park, S.  et al. 2004	15227729				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Korean	Korea	CDC GDPinfo	3673	Hs.591770			Yonsei medical journal. 2004 Jun;45(3):428-34	Association of the gene polymorphisms of platelet glycoprotein Ia and IIb/IIIa with myocardial infarction and extent of coronary artery disease in the Korean population.		192974	11994	2	2004	Conclusively, HPA-3 polymorphism was associated with MI in Korean individuals younger than 56 years of age, but other polymorphisms of GP, which we studied, were not associated with both the extent of coronary atherosclerosis or MI.	Cohort 1,073 Korean subjects who underwent coronary angiography 										
128999		myocardial infarct; lymphoproliferative disorders; restenosis	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		Halle, L.  et al. 2005	15730528				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	sub-Saharan African		CDC GDPinfo	3673	Hs.591770			Tissue antigens. 2005 Mar;65(3):295-8	HPA polymorphism in sub-Saharan African populations: Beninese, Cameroonians, Congolese, andPygmies.		192974	11999	2	2005	This study is of great importance (i) particularly in the context of the diversity caused by the population migrations, we may observe today in our hospitals (ii) to confirm that the Pygmy population with distinctive frequencies (absence of the HPA-1b, HPA-2b, and HPA-5b highest frequencies) is an isolated population.	Cohort 										
129000	Y	atherosclerosis, coronary; hematology indices	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Thrombosis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Ajzenberg, N.  et al. 2005	15947241	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Arteriosclerosis, thrombosis, and vascular biology. 2005 Aug;25(8):1756-60	Association of the -92C/G and 807C/T polymorphisms of the alpha2 subunit gene with human platelets alpha2beta1 receptor density.		192974	12000	2	2005	 These results suggest that an individual effect of each polymorphism located either in the coding or promoter sequence of the alpha2 gene may act in combination to modulate variations in platelets alpha2beta1 receptor density.											
128995	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Zhao, Y.  et al. 2003	14556196				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Zhonghua yi xue yi chuan xue za zhi. 2003 Oct;20(5):417-20	[Association of the polymorphism of platelet membrane glycoprotien I a gene with myocardial infarction]		192974	11991	2	2003	 The above data suggest that there is a strong association between the presence of GP Ia T allele and MI. T allele ca n be a marker of genetic susceptibility to MI. These need to be substantiated by a large scale and prospective study.	Case:137 patients with myocardial infarction;Control:175 controls with no history of coronary heart disease, thrombogenic and hemorrhagenic diseases										
128996		acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Zhao, Y.  et al. 2004	15104219				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		China	CDC GDPinfo	3673	Hs.591770			Chinese medical sciences journal. 2004 Mar;19(1):13-8	Correlation between the polymorphism of glycoprotein Ia gene and acute coronary syndrome		192974	11992	2	2004	 This study suggests a strong association between presence of GPIa T807 allele and ACS. T807 allele can be a marker of genetic susceptibility to ACS.	Control:65 controls with no history of coronary heart disease, thrombogenic and hemorrhagenic diseases;Case:75 patients with either acute myocardial infarction (AMI) or unstable angina pectoris (UAP)										
128997		platelet aggregation	HEMATOLOGICAL	HEM	Coronary Disease|Thrombosis	5	5q23-q31	ITGA2	52320912	52426366		Angiolillo, D. J.  et al. 2004	15205592	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Blood coagulation & fibrinolysis. 2004 Jul;15(5):427-33	807 C/T Polymorphism of the glycoprotein Ia gene and pharmacogenetic modulation of platelet response to dual antiplatelet treatment		192974	11993	2	2004	In conclusion, the T allele of the GP Ia gene modulates platelet aggregation and clopidogrel antiplatelet effects, suggesting an enhanced reactivity to fibrillar collagens (exposed during coronary stenting) in T allele carriers and might contribute to an increased thrombotic risk in these patients.	Cohort 44 coronary stenting patients 	clopidogrel									
128992	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Benze, G.  et al. 2002	11812069	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			European heart journal. 2002 Feb;23(4):325-30	Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men.		192974	11983	2	2002	The GPIIIa Pl(A2)allele is not independently associated with the risk of premature myocardial infarction. The T(807)allele of the GPIa gene alone or in combination with the Pl(A2)allele had no major effect on premature myocardial infarction risk.	Control:138 healthy controls;Case:287 men who had their first myocardial infarction before age 45										
128993	Y	intima-media thickness; carotid plaque	METABOLIC	MET	Carotid Artery Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2	5	5q23-q31	ITGA2	52320912	52426366		Maeno, T.  et al. 2002	11978651				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Japan	CDC GDPinfo	3673	Hs.591770			Diabetes. 2002 May;51(5):1523-8	The 807T allele in alpha2 integrin is protective against atherosclerotic arterial wall thickening and the occurrence of plaque in patients with type 2 diabetes		192974	11984	2	2002	These results suggest that the number of 807T alleles in alpha2 integrin is protective against atherosclerotic arterial wall thickening and the occurrence of plaque in patients with type 2 diabetes.	Control:265 control subjects;Case:272 patients with diabetes										
128994	Y	thrombosis, deep vein; Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Thrombosis	5	5q23-q31	ITGA2	52320912	52426366		Polat, G.  et al. 2002	12412731	C807T/G873A			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Turkey	CDC GDPinfo	3673	Hs.591770			Haematologia. 2002 ;32(2):121-8	Association of the platelet glycoprotein Ia C807T/G873A gene polymorphism and thrombosis in Beh????et patients.		192974	11986	2	2002	Our data indicate that patients with BD are affected by the glycoprotein Ia gene 807TT genotypes and carrying 807T allele. The risk of thrombosis is significantly higher in patients who have 807TT and 807CT genotypes than in patients who have 807CC genotype.	Case:20 Turkish patients with Behcet disease;Control:61 Turkish controls										
128989	N	restenosis	CARDIOVASCULAR	CARD	Coronary Disease|Recurrence	5	5q23-q31	ITGA2	52320912	52426366		von Beckerath, N.  et al. 2001	11395045	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Atherosclerosis. 2001 Jun;156(2):463-8	Glycoprotein Ia C807T polymorphism and risk of restenosis following coronary stenting.		192974	11978	2	2001	Thus, carriage of the GP Ia T807 allele is not associated with an increased risk of restenosis or unfavorable late outcome following coronary artery stenting.	Cohort 1769 consecutive patients treated with coronary stenting 										
128990	Y	myocardial infarction; angina	CARDIOVASCULAR	CARD	Coronary Disease|Angina, Unstable|Myocardial Infarction|Acute Disease	5	5q23-q31	ITGA2	52320912	52426366		Casorelli, I.  et al. 2001	11472360	C807T/G873A			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Italian	Italy	CDC GDPinfo	3673	Hs.591770			British journal of haematology. 2001 Jul;114(1):150-4	The C807T/G873A polymorphism in the platelet glycoprotein Ia gene and the risk of acute coronary syndrome in the Italian population		192974	11979	2	2001	We conclude that  the GP Ia 807 TT (873 AA) genotype is associated with an increased risk of acute coronary syndrome in the Italian population; conversely, the GP Ia 807 CC (873 GG) genotype seems to represent a protective factor.	Case:157 patients with acute coronary syndrome (117 with myocardial infarction and 40 with severe unstable angina) with first manifestation of coronary disease occurring before 65 years of age:Italian;Control:312 healthy controls	smoking (tobacco)									
128991	N	nephropathy	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	5	5q23-q31	ITGA2	52320912	52426366		Tsai, D. H.  et al. 2001	11728949				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			American journal of kidney diseases. 2001 Dec;38(6):1185-90	Platelet Collagen Receptor alpha2beta1 Integrin and Glycoprotein IIIa Pl(A1/A2) Polymorphisms Are Not Associated With Nephropathy in Type 2 Diabetes		192974	11982	2	2001	In conclusion, age, duration of diabetes, BMI, and HbA(1c) level are strong predictors for nephropathy in patients with type 2 diabetes. However, the Bgl II polymorphism of the alpha2beta1 integrin gene and the Apa I polymorphism of the platelet GPIIIa gene do not have a major role in the development of diabetic nephropathy in our population.	Control:217 nondiabetic healthy subjects;Case:234 subjects with type 2 diabetes (126 patients with and 108 patients without diabetic nephropathy)										
128986		platelet alpha(2)beta(1), densities of	HEMATOLOGICAL	HEM		5	5q23-q31	ITGA2	52320912	52426366		Jacquelin, B.  et al. 2001	11238113				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDPinfo	3673	Hs.591770			Blood. 2001 Mar;97(6):1721-6	Allele-dependent transcriptional regulation of the human integrin alpha2 gene.		192974	11975	2	2001	The gene frequency of -52T in a random Caucasian population is approximately 0.35, and the expression of -52T correlates directly with reduced densities of platelet alpha(2)beta(1).	Cohort a random Caucasian population 										
128987	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Morita, H.  et al. 2001	11246537	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Japanese	Japan	CDC GDPinfo	3673	Hs.591770			Thrombosis and haemostasis. 2001 Feb;85(2):226-30	Lack of association between the platelet glycoprotein Ia C807T gene polymorphism and myocardial infarction in Japanese. An approach entailing melting curve analysis with specific fluorescent hybridization probes.		192974	11976	2	2001	Allele frequencies of the 807T (873A) variant were similar in the control and patient groups (0.373 vs. 0.352). The 807T and 873A variants of platelet glycoprotein Ia gene are common and in a perfect linkage in the Japanese population, but it appears unlikely that the 807T (873A) variant represents a useful marker of increased risk for myocardial infarction.	Case:210 Japanese myocardial infarction patients;Control:420 age- and sex-matched controls										
128988	N	stroke	CARDIOVASCULAR	CARD	Cerebral Infarction	5	5q23-q31	ITGA2	52320912	52426366		Akar, N.  et al. 2001	11323022				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Turkish	Turkey	CDC GDPinfo	3673	Hs.591770			Thrombosis research. 2001 Apr;102(2):121-3	The alpha2 Gene alleles of the platelet collagen receptor integrin alpha2 beta1 in Turkish children with cerebral infarct.		192974	11977	2	2001	Our data indicated that these haplotypes are not risk factors in pediatric stroke group.	Case:44 pediatric patients with cerebral infarct (age 10 months to 18 years);Control:96 healthy unrelated controls										
128983	Y	platelet alpha2 beta1 density	METABOLIC	MET		5	5q23-q31	ITGA2	52320912	52426366		Kritzik M et al. 1998	9746778				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			Blood. 1998 Oct;92(7):2382-8	Nucleotide polymorphisms in the alpha2 gene define multiple alleles that are associated with differences in platelet alpha2 beta1 density.		192974	4095	1	1998												
128984	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Moshfegh K et al. 1999	9950439				integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X17033			KGB	3673	Hs.482077			Lancet	Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study.		192974	4096	1	1999												
128985	Y	premature myocardial infarction in men.	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Benze G et al. 2002	11812069	C807T			integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			European heart journal. 2002 Feb;23(4):325-30	Association of the GPIa C807T and GPIIIa PlA1/A2 polymorphisms with premature myocardial infarction in men.		192974	4097	1	2002	The GPIIIa Pl(A2)allele is not independently associated with the risk of premature myocardial infarction. The T(807)allele of the GPIa gene alone or in combination with the Pl(A2)allele had no major effect on premature myocardial infarction risk.	Control:138 healthy controls;Case:287 men who had their first myocardial infarction before age 45										
128980		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Petrovic MG 2003	12938014				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Japanese	Slovenia	Y Wang	3673	Hs.591770	diabetic retinopathy		Journal of human genetics. 2003 ;48(9):457-60	BglII gene polymorphism of the alpha2beta1 integrin gene is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes.		192974	4092	1	2003												
128981	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Diabetes Complications|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Reiner AP 2003	12540964			coding sequence	Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Sweden	Y Wang	3673	Hs.591770	diabetic retinopathy		Thrombosis and haemostasis. 2003 Jan;89(1):142-8	Diabetes duration may modify the association between genetic variation in the glycoprotein Ia subunit of the platelet collagen receptor and risk of severe diabetic retinopathy: a working hypothesis.		192974	4093	1	2003												
128982	Y	diabetes, type 2	METABOLIC	MET	Carotid Artery Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2	5	5q23-q31	ITGA2	52320912	52426366		Maeno T 2002	11978651	807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Japan	Y Wang	3673	Hs.591770	Complications		Diabetes. 2002 May;51(5):1523-8	The 807T allele in alpha2 integrin is protective against atherosclerotic arterial wall thickening and the occurrence of plaque in patients with type 2 diabetes.		192974	4094	1	2002	These results suggest that the number of 807T alleles in alpha2 integrin is protective against atherosclerotic arterial wall thickening and the occurrence of plaque in patients with type 2 diabetes.	Control:265 control subjects;Case:272 patients with diabetes										
128977	Y	diabetic retinopathy	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Matsubara Y et al. 2000	10688808				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Japan	KGB	3673	Hs.591770			Blood. 2000 Mar;95(5):1560-4	Association between diabetic retinopathy and genetic variations in alpha2beta1 integrin a platelet receptor for collagen.		192974	4089	1	2000												
128978	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366	n	Hirashiki A 2003	14563588	1018C3T (Thr145Met)			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Japanese	Japan	KGB	3673	Hs.591770			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		192974	4090	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
128979		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Ayala F 2003	12908817	C807T and G1648A			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Spain	KGB	3673	Hs.591770			Breast cancer research and treatment. 2003 Jul;80(2):145-54	Genetic polymorphisms of platelet adhesive molecules: association with breast cancer risk and clinical presentation.		192974	4091	1	2003												
128974	Y	cardiovascular mortality	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Roest M et al. 2000	11015342				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			Circulation. 2000 Oct;102(14):1645-50	Homozygosity for 807 T polymorphism in alpha(2) subunit of platelet alpha(2)beta(1) is associated with increased risk of cardiovascular mortality in high-risk women.		192974	4086	1	2000	 alpha(2)beta(1) 807 TT homozygosity, coding for increased alpha(2)beta(1) density on the platelet membrane, is associated with an increased risk of cardiovascular mortality in those women with indications of compromised endothelium.											
128975	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Santoso S et al. 1999	10194421	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			Blood. 1999 Apr;93(8):2449-53	Association of the platelet glycoprotein Ia C807T gene polymorphism with nonfatal myocardial infarction in younger patients.		192974	4087	1	1999												
128976	Y	variation in platelet integrin alpha 2 beta 1 density	OTHER	OTH		5	5q23-q31	ITGA2	52320912	52426366		Kunicki TJ et al. 1997	9058714				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			Blood. 1997 Mar;89(6):1939-43	Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence.		192974	4088	1	1997												
128971	N	fatal coronary events	OTHER	OTH	Death, Sudden, Cardiac|Coronary Thrombosis|Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366	n	Mikkelsson J et al. 2002	12208476	(C807T/HPA-5)			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Finland	KGB	3673	Hs.591770			Atherosclerosis. 2002 Nov;165(1):111-8	Platelet collagen receptor GPIa (C807T/HPA-5) haplotype is not associated with an increased risk of fatal coronary events in middle-aged men.		192974	4083	1	2002	Our results do not support an effect of the GPIa haplotype on fatal coronary events among middle-aged men.	Control:328 autopsied middle-aged Caucasian Finnish men who died of non-cardiac related illneses University of Helsinki, Finland  1981??1982 or 1991??1992;Case:372 sudden cardiac death victims (n=288) and men with fatal acute myocardial infarction (n=										
128972	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366	n	Morita H et al. 2001	11246537	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Japanese	Japan	KGB	3673	Hs.591770			Thrombosis and haemostasis. 2001 Feb;85(2):226-30	Lack of association between the platelet glycoprotein Ia C807T gene polymorphism and myocardial infarction in Japanese. An approach entailing melting curve analysis with specific fluorescent hybridization probes.		192974	4084	1	2001	Allele frequencies of the 807T (873A) variant were similar in the control and patient groups (0.373 vs. 0.352). The 807T and 873A variants of platelet glycoprotein Ia gene are common and in a perfect linkage in the Japanese population, but it appears unlikely that the 807T (873A) variant represents a useful marker of increased risk for myocardial infarction.	Case:210 Japanese myocardial infarction patients;Control:420 age- and sex-matched controls										
128973	Y	double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa	OTHER	OTH	Myocardial Infarction|Blood Platelet Disorders	5	5q23-q31	ITGA2	52320912	52426366		Pontiggia L et al. 2002	12482840				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			KGB	3673	Hs.591770			Arteriosclerosis, thrombosis, and vascular biology. 2002 Dec;22(12):2093-8	Increased platelet-collagen interaction associated with double homozygosity for receptor polymorphisms of platelet GPIa and GPIIIa.		192974	4085	1	2002	 The combined homozygous prothrombotic SNPs of GPIa and GPIIIa are associated with an increased platelet-collagen interaction and procoagulant activity that can be readily demonstrated in several independent systems. Our patient may serve as a useful model for the functional consequences of two combined, potentially procoagulant, platelet SNPs.											
128968		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	X	Xq22.3	IRS4	107862367	107866295		Watanabe, I.  et al. 2003	12732844				Insulin receptor substrate 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003604.1	Japanese	Japan	CDC GDPinfo	8471	Hs.592215			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		603510	28589	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
128969	Y	Vascular Disease	CARDIOVASCULAR	CARD	Vascular Diseases	5	5q23-q31	ITGA2	52320912	52426366		Hessner MJ 2001	11568114	C807T	the 807C and the 807T alleles are associated with low and high GPIa/IIa expression. respectively.Homozygosity for the 807T allele is associated with up to 10-fold increased GPIa/IIa receptor on platelet membranes and increased platelet adhesion to type I		Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Caucasian		TJB	3673	Hs.591770			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		192974	4081	1	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors										
128970	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Thrombosis	5	5q23-q31	ITGA2	52320912	52426366		Polat G et al. 2002	12412731	C807T/G873A			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Turkey	KGB	3673	Hs.591770			Haematologia. 2002 ;32(2):121-8	Association of the platelet glycoprotein Ia C807T/G873A gene polymorphism and thrombosis in Behcet patients.		192974	4082	1	2002	Our data indicate hat patients with BD are affected by the glycoprotein Ia gene 807TT genotypes and carrying 807T allele. The risk of thrombosis is significantly higher in patients who have 807TT and 807CT genotypes than in patients who have 807CC genotype.	Case:20 Turkish patients with Behcet disease;Control:61 Turkish controls										
128964		prostate cancer	CANCER	CAN	Prostatic Neoplasms	13	13q34	IRS2	109204184	109236915		Neuhausen, S. L.  et al. 2005	15678496				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			The Prostate. 2005 Jul;64(2):168-74	Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972Rvariant and cancer risk		600797	26330	2	2005	 These results support a role of the insulin and/or insulin-like growth factor pathways in the etiology of prostate cancer.	Case:199 incident prostate cancer cases;Control:267 age-matched controls										
128966		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	13	13q34	IRS2	109204184	109236915		Watanabe, I.  et al. 2003	12732844				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Japanese	Japan	CDC GDPinfo	8660	Hs.442344			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		600797	28579	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
128967	N	Type II diabetes mellitus or insulin resistance	OTHER	OTH	Diabetes Mellitus, Type 2|Insulin Resistance	X	Xq22.3	IRS4	107862367	107866295	n	Almind K et al. 1998	9726601				Insulin receptor substrate 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003604.1			KGB	8471	Hs.592215			Diabetologia. 1998 Aug;41(8):969-74	Common amino acid substitutions in insulin receptor substrate-4 are not associated with Type II diabetes mellitus or insulin resistance.		603510	6570	1	1998												
128961		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Body Weight	13	13q34	IRS2	109204184	109236915		Laukkanen, O.  et al. 2004	15127203				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2		Finland	CDC GDPinfo	8660	Hs.442344			Diabetologia. 2004 May;47(5):871-7	Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weightchange and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.		600797	25114	2	2004	The common polymorphisms of the IGF-1R, IRS-1 and IRS-2 genes may modify the weight change response to a lifestyle intervention but not the conversion from IGT to Type 2 diabetes, whereas IGF-1R may also regulate the risk of developing Type 2 diabetes.	Cohort 490 overweight subjects with impaired glucose tolerance whose DNA was available from the Finnish Diabetes Prevention Study 	diet physical activity									
128962	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	13	13q34	IRS2	109204184	109236915		Slattery, M. L.  et al. 2004	15247132				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2		California|Utah	CDC GDPinfo	8660	Hs.442344			Cancer epidemiology, biomarkers & prevention. 2004 Jul;13(7):1206-14	Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer.		600797	26328	2	2004	 Both IRS1 and IRS2 variants were associated with colon cancer risk independently. Associations were slightly stronger when polymorphisms in multiple genes were evaluated in conjunction with other genes rather than individually. These data suggest that the insulin-related pathway may be important in the etiology of colon cancer but not rectal cancer.	Control:1,205 controls for rectal cancer cases;Case:1,346 colon cancer cases;Control:1,544 population-based controls for colon cancer cases;Case:952 rectal cancer cases										
128963		body mass; birth weight; height	METABOLIC	MET		13	13q34	IRS2	109204184	109236915		Sweeney, C.  et al. 2005	16030120				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1802-9	Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women.		600797	26329	2	2005												
128958	Y	polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Ehrmann, D. A.  et al. 2002	12213887				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4297-300	Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.		600797	22644	2	2002	These results suggest that the IRS-2 Gly(1057)Asp polymorphism influences blood glucose levels in nondiabetic white and African-American women with PCOS. Thus, individuals with the common IRS-2 Gly/Gly genotype may be at increased risk of developing type 2 diabetes.	Cohort 126/48 nondiabetic Caucasian (n=126) and African-American (n=48) women 										
128959		insulin; blood pressure, arterial	METABOLIC	MET	Hypertension|Obesity	13	13q34	IRS2	109204184	109236915		Kobalava, Z. D.  et al. 2005	15940190				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Kardiologiia. 2005 ;45(4):37-43	[Clinical Genetic Determinants of Carbohydrate Metabolism Disturbances in Patients With Hypertension and Excessive Weight.]		600797	22645	2	2005	No association was found between systolic BP and alleles and genotypes of polymorphic markers of PPARG2 and PPARA genes.											
128960	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Wagner, K.  et al. 2004	15308584				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2		Poland|Germany	CDC GDPinfo	8660	Hs.442344			Carcinogenesis. 2004 Dec;25(12):2473-8	The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect inbreast cancer.		600797	22646	2	2004	A genotype combination analysis of the nonsynonymous polymorphisms in the IRS1, IRS2 and SHC1 genes did not show any effect on breast cancer risk.	Control:controls;Case Polish familial breast cancer cases										
128955		insulin	METABOLIC	MET	Insulin Resistance|Obesity	13	13q34	IRS2	109204184	109236915		Le Fur, S.  et al. 2002	12475767				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Diabetes. 2002 Dec;51 Suppl 3:S304-7	Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms.		600797	22641	2	2002	Our results stress the need for combined genotype analysis when candidate genes are functionally involved in the same pathway.	Cohort 174/165 two cohorts of 174 and 165 obese Caucasian children 										
128956	Y	polycystic ovarian syndrome; insulin resistance	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	13	13q34	IRS2	109204184	109236915		El Mkadem, S. A.  et al. 2001	11522686				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Diabetes. 2001 Sep;50(9):2164-8	Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin resistance of women with polycystic ovary syndrome.		600797	22642	2	2001	We conclude that  polymorphic alleles of both IRS-1 and IRS-2, alone or in combination, may have a functional impact on the insulin-resistant component of PCOS.	Case women with polycystic ovary syndrome with a variable degree of insulin resistance;Control non-insulin resistant individuals										
128957	N	insulin secretion	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q34	IRS2	109204184	109236915		t Hart, L. M.  et al. 2002	11872698				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2		Netherlands	CDC GDPinfo	8660	Hs.442344			Diabetes. 2002 Mar;51(3):884-7	Variations in insulin secretion in carriers of gene variants in IRS-1 and -2.		600797	22643	2	2002	We conclude that  the common gene variants in IRS-1 and IRS-2 are not associated with altered glucose-stimulated insulin secretion in two populations from the Netherlands.	Control:64 subjects with normal glucose tolerance;Case:94 subjects with impaired glucose tolerance										
128951	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Mammarella, S.  et al. 2000	11030756				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Human molecular genetics. 2000 Oct;9(17):2517-21	Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes.		600797	17851	2	2000	These data provide evidence for a strong association between type 2 diabetes and the G1057D common genetic variant of IRS-2, which appears to be protective against type 2 diabetes in a codominant fashion. Overweight appears to modify the effect of this polymorphism toward a higher risk of type 2 diabetes. Carriers of this polymorphism may represent an elective target for prevention of type 2 diabetes through preventing or treating excessive weight.	Case:193 Italian patients with type 2 diabetes;Control:206 control subjects	overweight									
128952	Y	obesity	METABOLIC	MET	Glucose Intolerance|Insulin Resistance|Obesity	13	13q34	IRS2	109204184	109236915		Lautier, C.  et al. 2003	12687350				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Human genetics. 2003 Jul;113(1):34-43	Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation.		600797	17852	2	2003	These data indicate that IRS2 is an influential gene in severe obesity and glucose intolerance in this population, whereas gene-based haplotypes of IRS2 have revealed heterogeneity in the behaviour of the Gly1057Asp mutation in relation to insulin resistance.	Control:92 controls having a BMI of 23.8+/-0.1kg/m(2);Case:99 women with morbid obesity										
128954		diabetes, type 2	METABOLIC	MET		13	13q34	IRS2	109204184	109236915		Kong, L.  et al. 2005	16086274				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Chinese		CDC GDPinfo	8660	Hs.442344			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):387-90	Study on the relationship between G1057D variants of IRS2 gene and obese T2DM in Chinese Han subjects.		600797	17854	2	2005	 The relationships between G1057D variants of IRS2 and T2DM are mediated by obesity.		obesity									
128948	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q34	IRS2	109204184	109236915		D'Alfonso, R.  et al. 2003	12519871				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			The Journal of clinical endocrinology and metabolism. 2003 Jan;88(1):317-22	Polymorphisms of the insulin receptor subtrate-2 in patients with type 2 diabetes		600797	11971	2	2003	These results strongly argue against a major role of IRS-2 polymorphisms in the pathogenesis of type 2 diabetes.	Control:186/123 glucose tolerant subjects from Lazio region (n=186) and from the Sicily region (n=123);Case:240 subjects with type 2 diabetes from the Lazio region Lazio and Sicily, Italy										
128949		obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperinsulinism|Obesity	13	13q34	IRS2	109204184	109236915		Stefan, N.  et al. 2003	12765968	Gly1057Asp			Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Pima Indian	Arizona	CDC GDPinfo	8660	Hs.442344			Diabetes. 2003 Jun;52(6):1544-50	Metabolic Effects of the Gly1057Asp Polymorphism in IRS-2 and Interactions With Obesity		600797	11972	2	2003	In conclusion, our findings suggest that the association of homozygosity for the Asp1057 allele in IRS-2 with type 2 diabetes in Pima Indians may be mediated by interaction of the polymorphism with obesity on several diabetes-related traits.	Cohort 998 Pima Indians with subgroups included 										
128950		insulin; blood pressure, arterial	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q34	IRS2	109204184	109236915		Zeng, W. M.  et al. 2003	14653106				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Hunan yi ke da xue xue bao. 2003 Aug;28(4):317-21	[Detection of single-nucleotide polymorphisms in insulin receptor substrate-2 gene 3'-untranslated region by denaturing high-performance liquid chromatography]		600797	11973	2	2003	 DHPLC is a rapid and automated technology, which is simpler and more accurate for detecting longer fragment of DNA than SSCP. The present method lays a foundation for further studying the relationship between the mutation of IRS-2 gene 3'-UTR and Type 2 diabetes mellitus.	Cohort 30/30 type 2 diabetic subjects (n=30) and healthy controls (n=30) 										
128945	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Mammarella S 2000	11030756	G1057D			Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Italian		Y Wang	8660	Hs.442344	overweight		Human molecular genetics. 2000 Oct;9(17):2517-21	Interaction between the G1057D variant of IRS-2 and overweight in the pathogenesis of type 2 diabetes.		600797	6584	1	2000	These data provide evidence for a strong association between type 2 diabetes and the G1057D common genetic variant of IRS-2, which appears to be protective against type 2 diabetes in a codominant fashion. Overweight appears to modify the effect of this polymorphism toward a higher risk of type 2 diabetes. Carriers of this polymorphism may represent an elective target for prevention of type 2 diabetes through preventing or treating excessive weight.	Case:193 Italian patients with type 2 diabetes;Control:206 control subjects	overweight									
128946		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	13	13q34	IRS2	109204184	109236915		Wang H 2001	11473060				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Chinese	China|Finland	Y Wang	8660	Hs.442344			Diabetes. 2001 Aug;50(8):1949-51	New amino acid substitutions in the IRS-2 gene in Finnish and Chinese subjects with late-onset type 2 diabetes.		600797	6585	1	2001												
128947	N	beta-cell function; insulin secretion	OTHER	OTH		13	13q34	IRS2	109204184	109236915		Fritsche, A.  et al. 2001	11600548	Gly1057Asp			Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			The Journal of clinical endocrinology and metabolism. 2001 Oct;86(10):4822-5	The prevalent Gly1057Asp polymorphism in the insulin receptor substrate-2 gene is not associated with impaired insulin secretion.		600797	11970	2	2001	In conclusion, our findings strongly suggest that the Gly1057Asp polymorphism in insulin receptor substrate-2 is not associated with beta-cell dysfunction. The normal maximal insulin secretory response makes it unlikely that this common polymorphism results in abnormal beta-cell development.	Cohort 318 normal glucose tolerant subjects Cohort 77 nondiabetics maximally stimulated by hyperglycemia (10mM), glucagon-like peptide-1, and arginine administered in an additive fashion 										
128942		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Watanabe, I.  et al. 2003	12732844				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	CDC GDPinfo	3667	Hs.471508			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		147545	28569	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
128943	N	impaired insulin secretion	OTHER	OTH		13	13q34	IRS2	109204184	109236915	n	Fritsche A et al. 2001	11600548				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			KGB	8660	Hs.442344			The Journal of clinical endocrinology and metabolism. 2001 Oct;86(10):4822-5	The prevalent Gly1057Asp polymorphism in the insulin receptor substrate-2 gene is not associated with impaired insulin secretion.		600797	6582	1	2001	In conclusion, our findings strongly suggest that the Gly1057Asp polymorphism in insulin receptor substrate-2 is not associated with beta-cell dysfunction. The normal maximal insulin secretory response makes it unlikely that this common polymorphism results in abnormal beta-cell development.	Cohort 318 normal glucose tolerant subjects Cohort 77 nondiabetics maximally stimulated by hyperglycemia (10mM), glucagon-like peptide-1, and arginine administered in an additive fashion										
128944	Y	obesity	METABOLIC	MET	Glucose Intolerance|Insulin Resistance|Obesity	13	13q34	IRS2	109204184	109236915		Lautier C 2003	12687350				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			KGB	8660	Hs.442344			Human genetics. 2003 Jul;113(1):34-43	Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation.		600797	6583	1	2003	These data indicate that IRS2 is an influential gene in severe obesity and glucose intolerance in this population, whereas gene-based haplotypes of IRS2 have revealed heterogeneity in the behaviour of the Gly1057Asp mutation in relation to insulin resistance.	Control:92 controls having a BMI of 23.8+/-0.1kg/m(2);Case:99 women with morbid obesity										
128939		insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Haap, M.  et al. 2005	15926113				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		147545	26326	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
128940		hyperandrogenism; premature pubarche	METABOLIC	MET	Hirsutism|Puberty, Precocious|Hyperandrogenism|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Witchel, S. F.  et al. 2001	11287026				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Fertility and sterility. 2001 Apr;75(4):724-30	Candidate gene analysis in premature pubarche and adolescent hyperandrogenism		147545	26327	2	2001	Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome.	Control:15 healthy control women;Case:29 adolescent girls with hyperandrogenism										
128941		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	2	2q36	IRS1	227308181	227372719		Navarro-Lopez, F.   2002	11975906				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		147545	28486	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
128936		longevity	AGING	AGE		2	2q36	IRS1	227308181	227372719		Kojima, T.  et al. 2004	15582274				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese		CDC GDPinfo	3667	Hs.471508			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		147545	25111	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
128937		body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Metabolic Syndrome X|Hypercholesterolemia|Hypertriglyceridemia	2	2q36	IRS1	227308181	227372719		Sanchez-Corona, J.  et al. 2004	14693412				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Mexican	Mexico	CDC GDPinfo	3667	Hs.471508			Diabetes research and clinical practice. 2004 Jan;63(1):47-55	Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings.		147545	25112	2	2004	These findings suggest that the insulin gene may be an important determinant of metabolic syndrome, and particularly of dyslipidemia, in this population.	Cohort 163 individuals from Yucatan, Mexico Yucatan, Mexico 										
128938		diabetes, type 2; hypertension; insulin; obesity	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity	2	2q36	IRS1	227308181	227372719		Flores-Martinez, S. E.  et al. 2004	15581831				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Mexican	Mexico	CDC GDPinfo	3667	Hs.471508			Ann Genet. 2004 Oct-Dec;47(4):339-48	DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group.		147545	25113	2	2004	From statistical analysis carried out here, individually, the Pst I, Nsi I and Gly972Arg polymorphisms were not associated with the type 2 diabetes, obese or hypertensive phenotypes in this population. Nevertheless, there was an association between the Nsi I and Pst I polymorphisms and increased serum insulin levels.	Cohort 73 individuals from Santiago Jamiltepec, a population with a high prevalence of type 2 diabetes Mexico 										
128933	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2q36	IRS1	227308181	227372719		Slattery, M. L.  et al. 2004	15247132				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		California|Utah	CDC GDPinfo	3667	Hs.471508			Cancer epidemiology, biomarkers & prevention. 2004 Jul;13(7):1206-14	Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer.		147545	25108	2	2004	 Both IRS1 and IRS2 variants were associated with colon cancer risk independently. Associations were slightly stronger when polymorphisms in multiple genes were evaluated in conjunction with other genes rather than individually. These data suggest that the insulin-related pathway may be important in the etiology of colon cancer but not rectal cancer.	Control:1,205 controls for rectal cancer cases;Case:1,346 colon cancer cases;Control:1,544 population-based controls for colon cancer cases;Case:952 rectal cancer cases										
128934		body mass; birth weight; height	METABOLIC	MET		2	2q36	IRS1	227308181	227372719		Sweeney, C.  et al. 2005	16030120				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1802-9	Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women.		147545	25109	2	2005												
128935		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2q36	IRS1	227308181	227372719		Neuhausen, S. L.  et al. 2005	15678496				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			The Prostate. 2005 Jul;64(2):168-74	Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972Rvariant and cancer risk		147545	25110	2	2005	 These results support a role of the insulin and/or insulin-like growth factor pathways in the etiology of prostate cancer.	Case:199 incident prostate cancer cases;Control:267 age-matched controls										
128930	Y	polycystic ovary syndrome; adrenal androgen	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Witchel, S. F.  et al. 2005	15705377				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Fertility and sterility. 2005 Feb;83(2):371-5	Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess.		147545	22638	2	2005	The G972R variant of the IRS1 gene might represent a modifier locus among women who are heterozygous carriers of CYP21 mutations, potentially increasing their risk of developing AA excess in PCOS. Nonetheless, this IRS1 variant and CYP21 mutations seem to play a limited role in the development of PCOS in the population studied.	Case:114 consecutive patients of non-Hispanic white race diagnosed with polycystic ovary syndrome from a University reproductive endocrinology laboratory and outpatient clinic;Control:95 healthy controls										
128931		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Body Weight	2	2q36	IRS1	227308181	227372719		Laukkanen, O.  et al. 2004	15127203				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Finland	CDC GDPinfo	3667	Hs.471508			Diabetologia. 2004 May;47(5):871-7	Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weightchange and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.		147545	22639	2	2004	The common polymorphisms of the IGF-1R, IRS-1 and IRS-2 genes may modify the weight change response to a lifestyle intervention but not the conversion from IGT to Type 2 diabetes, whereas IGF-1R may also regulate the risk of developing Type 2 diabetes.	Cohort 490 overweight subjects with impaired glucose tolerance whose DNA was available from the Finnish Diabetes Prevention Study 	diet physical activity									
128932		insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity, Morbid|Weight Loss	2	2q36	IRS1	227308181	227372719		Sesti, G.  et al. 2005	15985484				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5064-9	Impact of common polymorphisms in candidate genes for insulin resistance and obesity on weight loss of morbidly obese subjects after laparoscopic adjustable gastric banding and hypocaloric diet.		147545	22640	2	2005	 These data demonstrate that genetic factors, which play an important role in the regulation of body weight, may account for differences in the therapeutic response to LAGB.											
128927		insulin; blood pressure, arterial	METABOLIC	MET	Hypertension|Obesity	2	2q36	IRS1	227308181	227372719		Kobalava, Z. D.  et al. 2005	15940190				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Kardiologiia. 2005 ;45(4):37-43	[Clinical Genetic Determinants of Carbohydrate Metabolism Disturbances in Patients With Hypertension and Excessive Weight.]		147545	19036	2	2005	No association was found between systolic BP and alleles and genotypes of polymorphic markers of PPARG2 and PPARA genes.											
128928		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719			16367885				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes, obesity & metabolism. 2006 Jan;8(1):75-82	IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do aminoacid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?		147545	19789	2	2006	 The Pro12Ala variant of PPARgamma2 is associated with T1DM, the minor Ala allele conferring a reduced risk. This same finding has been reported in patients with T2DM.											
128929		insulin	METABOLIC	MET		2	2q36	IRS1	227308181	227372719		Stumvoll, M.  et al. 2002	12107745				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetologia. 2002 May;45(5):651-6	Insulin sensitivity of glucose disposal and lipolysis: no influence of common genetic variantsin IRS-1 and CAPN10		147545	22637	2	2002	Insulin sensitivity of lipolysis has a considerable variation in healthy human beings and independently explains about 10% of the variation in insulin sensitivity of glucose disposal (or vice versa). It is possible that mediated through NEFAs, insulin resistance of glucose disposal is secondary to that of lipolysis. Alternatively, the biological variation in insulin sensitivity, to some extent, affects both systems in parallel. Neither of the two putatively insulin resistance-related polymorphisms that were tested contributed measurably to the biological variation of insulin sensitivity of lipolysis.	Cohort 81 healthy subjects 										
128923	Y	insulin; obesity	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Obesity	2	2q36	IRS1	227308181	227372719		Baroni, M. G.  et al. 2004	15636429				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Journal of endocrinological investigation. 2004 Sep;27(8):754-9	The G972R variant of the insulin receptor substrate-1 (IRS-1) gene is associated with insulin resistance in "uncomplicated" obese subjects evaluated by hyperinsulinemic-euglycemic clamp.		147545	17848	2	2004	Our results demonstrate the association of the G972R variant of the IRS-1 gene with reduced insulin sensitivity in obese subjects, and indicate a possible interaction between the IRS-1 variant and obesity in worsening of insulin sensitivity.	Cohort 61 ubjects with "uncomplicated" obesity [i.e. without diabetes, hypertension, dyslipidemia, coronary artery disease (CAD)] 										
128925		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Orkunoglu Suer, F. E.  et al. 2005	16284438				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Turkish		CDC GDPinfo	3667	Hs.471508			Endocrine journal. 2005 Oct;52(5):593-8	Molecular scanning for mutations in the insulin receptor substrate-1 (irs-1) gene in Turkish with type 2 diabetes mellitus.		147545	17850	2	2005												
128926		hypertension; glucose tolerance; insulin; hematology indices	CARDIOVASCULAR	CARD	Hypertension|Glucose Metabolism Disorders	2	2q36	IRS1	227308181	227372719			15759454				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Ter Arkh. 2005 ;77(1):46-51	[Clinicogenetic aspects of carbohydrate metabolism disorders and efficacy of their correction with moxonidine and metformine in patients with arterial hypertension]		147545	19035	2	2005	 Genetic factors participate in development of metabolic disturbances in hypertensive patients, obesity and CD and determine treatment efficacy in each individual patient.	Cohort 83 patients (31 male and 52 female patients aged 40-75 years) with untreated arterial hypertension stage I, obesity and CD (by glucose tolerance test) 	metformin moxonidin									
128920	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Wagner, K.  et al. 2004	15308584				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Poland|Germany	CDC GDPinfo	3667	Hs.471508			Carcinogenesis. 2004 Dec;25(12):2473-8	The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect inbreast cancer.		147545	17845	2	2004	A genotype combination analysis of the nonsynonymous polymorphisms in the IRS1, IRS2 and SHC1 genes did not show any effect on breast cancer risk.	Control:controls;Case Polish familial breast cancer cases										
128921		insulin; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Sir-Petermann, T.  et al. 2004	15474880				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Chile	CDC GDPinfo	3667	Hs.471508			Nutrition (Burbank, Los Angeles County, Calif). 2004 Oct;20(10):905-10	Insulin secretion in women who have polycystic ovary syndrome and carry the Gly972Arg variant of insulin receptor substrate-1 in response to a high-glycemic or low-glycemic carbohydrate load.		147545	17846	2	2004	 In HW, this polymorphism appears to be associated with a decrease in insulin secretion; in PCOS women, this polymorphism interacts with obesity to influence insulin resistance, thus contributing to the pathogenesis of the metabolic component of PCOS.	Case:146 women with polycystic ovary syndrome;Control:97 healthy women										
128922		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Zeggini, E.  et al. 2004	15561966				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes. 2004 Dec;53(12):3319-22	Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.		147545	17847	2	2004	Additional studies of IRS1 variation will be required to obtain a robust estimate of the overall contribution of IRS1 variation to type 2 diabetes susceptibility, but the current study suggests that previous studies have overestimated the magnitude of this effect.	Control:1,257 control subjects matched on ethnicity;Case:971 type 2 diabetic subjects ascertained for strong family history and/or early onset:UK										
128917	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Kovacs, P.  et al. 2003	14633864				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Pima Indian		CDC GDPinfo	3667	Hs.471508			Diabetes. 2003 Dec;52(12):3005-9	The role of insulin receptor substrate-1 gene (IRS1) in type 2 diabetes in Pima Indians.		147545	17842	2	2003	The association of variants in IRS1 with type 2 diabetes and type 2 diabetes-related phenotypes and the differential expression of IRS1 in adipocytes and skeletal muscle suggest a role of this gene in the pathogenesis of type 2 diabetes in Pima Indians.	Cohort 937 full-heritage Pima Indians 										
128918		obesity	METABOLIC	MET	Insulin Resistance|Obesity|Genetic Predisposition to Disease|Body Weight	2	2q36	IRS1	227308181	227372719		Jellema, A.  et al. 2003	14642408				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Netherlands	CDC GDPinfo	3667	Hs.471508			Atherosclerosis. 2003 Nov;171(1):75-81	Metabolic risk markers in an overweight and normal weight population with oversampling of carriers of the IRS-1 972Arg-variant.		147545	17843	2	2003	Our large population-based sample shows that the IRS-1 Gly972Arg polymorphism relates to higher fasting insulin levels and lower triglyceride levels. The impact of this genotype and its modification by overweight may be smaller than suggested previously.	Cohort 3,684 subjects selected from a large population-based cohort 										
128919	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Sesti, G.  et al. 2004	15161794				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes care. 2004 Jun;27(6):1394-8	The Arg972 Variant in Insulin Receptor Substrate-1 Is Associated With an Increased Risk of Secondary Failure to Sulfonylurea in Patients With Type 2 Diabetes		147545	17844	2	2004	 These data demonstrate that the Arg(972) IRS-1 variant is associated with increased risk for secondary failure to sulfonylurea, thus representing a potential example of pharmacogenetics in type 2 diabetes.	Cohort 477 unrelated Caucasian type 2 diabetic patients were 	metformin sulfonylurea									
128914	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	2	2q36	IRS1	227308181	227372719		Jellema, A.  et al. 2003	12819898				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetologia. 2003 Jul;46(7):990-5	Gly972Arg variant in the insulin receptor substrate-1 gene and association with Type 2 diabetes: a meta-analysis of 27 studies.		147545	17839	2	2003	Overall, carriers of the 972Arg variant of the IRS-1 gene are at a 25% increased risk of having Type 2 diabetes compared with non-carriers. The odds ratios are generally higher in hospital-based studies, including relatively young, symptomatic, cases.	Case:3,408 type 2 diabetes;Control:5,419:controls										
128915	Y	cardiovascular disease	OTHER	OTH	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Marini, M. A.  et al. 2003	12843189				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3368-71	The Arg972 variant in insulin receptor substrate-1 is associated with an atherogenic profile in offspring of type 2 diabetic patients.		147545	17840	2	2003	These results suggest that the Arg(972) IRS-1 variant could contribute to the risk for atherosclerotic cardiovascular diseases associated with type 2 diabetes by producing a cluster of insulin resistance-related metabolic abnormalities.	Cohort 153 glucose-tolerant, unrelated offspring of type 2 diabetic patients 										
128916	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Chen, S. H.  et al. 2003	12934392				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Chinese		CDC GDPinfo	3667	Hs.471508			Hunan yi ke da xue xue bao. 2003 Feb;28(1):33-6	[Relationship between the mutation of insulin receptor substrate-1 gene 3'untranslated region and type 2 diabetes in the Chinese]		147545	17841	2	2003	 Mutation in the IRS-1 gene 3'untranslated region is not an important genetic factor for Type 2 diabetes in the Chinese.	Case:120 Chinese patients with type 2 diabetes;Control:120 control subjects										
128911		precocious puberty	DEVELOPMENTAL	DEV	Ovarian Diseases|Hyperinsulinism|Puberty, Precocious|Hyperandrogenism	2	2q36	IRS1	227308181	227372719		Ibanez, L.  et al. 2002	12477526				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Fertility and sterility. 2002 Dec;78(6):1288-93	Increased frequency of the G972R variant of the insulin receptor substrate-1 (irs-1) gene among girls with a history of precocious pubarche.		147545	17836	2	2002	Sex hormone-binding globulin concentrations were lower among girls heterozygous for G972R variant. Predictors of progression from PP to hyperinsulinemic ovarian hyperandrogenism included chronological age, insulin, low-density lipoprotein cholesterol, and IGFBP-1 concentrations.The low mean SHBG concentration found among G972R carriers suggests that this variant may be a minor locus associated with development of hyperinsulinemic insulin resistance and ovarian androgen excess in girls with a history of PP.	Control healthy control subjects;Case:54 girls with a history of precocious puberty										
128912	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Holzl, B.  et al. 2003	12588284				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			European journal of clinical investigation. 2003 Feb;33(2):110-6	Intima media thickness of carotid arteries is reduced in heterozygous carriers of the Gly972Arg variant in the insulin receptor substrate-1 gene.		147545	17837	2	2003	 The results of our study demonstrate that the presence of the Arg972 allele is associated with lower IMT values of the carotid arteries. This finding is partly explained by lower serum levels of apolipoprotein B in carriers. The protective effect of the Gly972 Arg mutation seems to be stronger in the presence of a higher systolic blood pressure. Our data contradict previous findings suggesting an increased risk for insulin resistance, type II diabetes and atherosclerotic vascular disease in carriers of the mutation.	Cohort 1,018 healthy unrelated individuals aged 40-65 years 										
128913	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Federici, M.  et al. 2003	12606535				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Italian	Italy	CDC GDPinfo	3667	Hs.471508			Diabetes. 2003 Mar;52(3):887-90	The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy.		147545	17838	2	2003	Our findings suggest a role for Arg(972) IRS-1 in conferring risk for the development of type 1 diabetes.	Case type 1 diabetic subjects;Control:controls										
128908	N	insulin secretion	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		t Hart, L. M.  et al. 2002	11872698				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Netherlands	CDC GDPinfo	3667	Hs.471508			Diabetes. 2002 Mar;51(3):884-7	Variations in insulin secretion in carriers of gene variants in IRS-1 and -2.		147545	17832	2	2002	We conclude that  the common gene variants in IRS-1 and IRS-2 are not associated with altered glucose-stimulated insulin secretion in two populations from the Netherlands.	Control:64 subjects with normal glucose tolerance;Case:94 subjects with impaired glucose tolerance										
128909		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Ehrmann, D. A.  et al. 2002	12213887				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4297-300	Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome.		147545	17834	2	2002	These results suggest that the IRS-2 Gly(1057)Asp polymorphism influences blood glucose levels in nondiabetic white and African-American women with PCOS. Thus, individuals with the common IRS-2 Gly/Gly genotype may be at increased risk of developing type 2 diabetes.	Cohort 126/48 nondiabetic Caucasian (n=126) and African-American (n=48) women 										
128910		insulin resistance	METABOLIC	MET	Metabolic Syndrome X	2	2q36	IRS1	227308181	227372719		Berger, D.  et al. 2002	12358865				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetic medicine. 2002 Oct;19(10):804-9	Genetic variants of insulin receptor substrate-1 (IRS-1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS-1.		147545	17835	2	2002	 While subtle effects of these variants cannot be excluded in this system, it is unlikely that these variants are responsible for the extreme insulin resistance seen in the subjects harbouring them. Although IRS proteins play a central role in insulin signalling, functionally significant mutations in the IRS-1 gene are a rare cause of human syndromes of severe insulin resistance.	Control:47 unaffected individuals;Case:83 unrelated affected severe insulin resistance:subjects										
128905	Y	body fat; insulin resistance	METABOLIC	MET	Insulin Resistance|Obesity	2	2q36	IRS1	227308181	227372719		Baroni, M. G.  et al. 2001	11317670				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Italian	Italy	CDC GDPinfo	3667	Hs.471508			Diabetologia. 2001 Mar;44(3):367-72	The G972R variant of the insulin receptor substrate-1 (IRS-1) gene, body fat distribution and insulin-resistance.		147545	17829	2	2001	The G972R mutatioY of the IRS-1 geYe associates with obesity, but Yot with fat distributioY, iY this ItaliaY cohort, aYd withiY the obese subjects this IRS-1 variaYt stroYgly associates with metabolic parameters suggestiYg greater iYsuliY-resistaYce. These fiYdiYgs iYdicate a possible iYteractioY betweeY the IRS-1 variaYt aYd obesity iY worseYiYg iYsuliY seYsitivity.	Case:157 non-diabetic obese subjects;Control:157 lean subjects										
128906	Y	polycystic ovarian syndrome; insulin resistance	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	2	2q36	IRS1	227308181	227372719		El Mkadem, S. A.  et al. 2001	11522686				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes. 2001 Sep;50(9):2164-8	Role of allelic variants Gly972Arg of IRS-1 and Gly1057Asp of IRS-2 in moderate-to-severe insulin resistance of women with polycystic ovary syndrome.		147545	17830	2	2001	We conclude that  polymorphic alleles of both IRS-1 and IRS-2, alone or in combination, may have a functional impact on the insulin-resistant component of PCOS.	Case women with polycystic ovary syndrome with a variable degree of insulin resistance;Control non-insulin resistant individuals										
128907	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Zeng, W.  et al. 2000	11775217				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Chinese		CDC GDPinfo	3667	Hs.471508			Chinese medical journal. 2000 Jan;113(1):80-3	The mutation of insulin receptor substrate-1 gene in Chinese patients with non-insulin-dependent diabetes mellitus.		147545	17831	2	2000	 These results indicate that there may be a relation between these nucleotide variations of IRS-1 gene and Chinese patients with NIDDM.	Case:68 Chinese patients with NIDDM;Control:68 controls subjects not otherwise specified										
128902	Y	glucose tolerance; insulin; polycystic ovary syndrome; androgen levels; anthropometric measuments	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Ertunc, D.  et al. 2005	15665022	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Human reproduction (Oxford, England). 2005 May;20(5):1207-12	The importance of IRS-1 Gly972Arg polymorphism in evaluating the response to metformin treatment in polycystic ovary syndrome.		147545	11967	2	2005	 There was a differential effect of metformin therapy in PCOS women on the basis of IRS genotype. This study may call attention to the importance of molecular markers in the management of women with PCOS.	Cohort 60 randomly selected women with polycystic ovary syndrome 	diet metformin									
128903	Y	adiponectin	UNKNOWN	UNK		2	2q36	IRS1	227308181	227372719		Mousavinasab, F.  et al. 2005	15781195				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Finnish		CDC GDPinfo	3667	Hs.471508			Molecular genetics and metabolism. 2005 Apr;84(4):344-8	Common polymorphisms in the PPARgamma2 and IRS-1 genes and their interaction influence serum adiponectin concentration in young Finnish men.		147545	11968	2	2005	We conclude that  the Ala12Ala genotype of PPARgamma2 is associated with elevated adiponectin level, and that the PPARgamma2 and IRS-1 genes have a possible interaction in their effects on adiponectin concentration.	Cohort young Finnish servicemen Finland 										
128904		glucose tolerance; insulin; polycystic ovary syndrome; hormone disturbance	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity|Hyperandrogenism	2	2q36	IRS1	227308181	227372719		Villuendas, G.  et al. 2005	16037106				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Spain	CDC GDPinfo	3667	Hs.471508			Human reproduction (Oxford, England). 2005 Nov;20(11):3184-91	Polymorphisms in the insulin receptor substrate-1 (IRS-1) gene and the insulin receptor substrate-2 (IRS-2) gene influence glucose homeostasis and body mass index in women with polycystic ovary syndrome and non-hyperandrogenic controls.		147545	11969	2	2005	 The Gly972Arg in IRS-1 and Gly1057Asp in IRS-2 polymorphisms influence glucose homeostasis in premenopausal women, but are not associated with PCOS.											
128899	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Van Dam, R. M.  et al. 2004	15209769	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetic medicine. 2004 Jul;21(7):752-8	The insulin receptor substrate-1 Gly972Arg polymorphism is not associated with Type 2 diabetes mellitus in two population-based studies		147545	11963	2	2004	 Our findings indicate that the IRS-1 Gly972Arg variant does not substantially increase risk of common Type 2 diabetes, or Type 2 diabetes in obese persons.	Case:725 Caucasian Dutch type 2 diabetic cases;Control:742:controls										
128900		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 2|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Bezerra, R. M.  et al. 2004	15222685	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Indian	Brazil	CDC GDPinfo	3667	Hs.471508			Human biology; an international record of research. 2004 Feb;76(1):147-51	Lack of Arg972 polymorphism in the IRS1 gene in Parakana Brazilian Indians		147545	11964	2	2004	To determine whether the absence of IRS1 polymorphism is a more general characteristic of Paleo-Indian-derived populations, we examined the Arg972 IRS1 polymorphism in Parakana Indians and found a lack of this polymorphism in the Parakana population.	Cohort Parakana Indians 										
128901	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Florez, J. C.  et al. 2004	15561965	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Scandinavia	CDC GDPinfo	3667	Hs.471508			Diabetes. 2004 Dec;53(12):3313-8	Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.		147545	11965	2	2004	Despite genotyping 9,000 people and >95% power to reproduce the estimated OR from the recent meta-analysis, we were unable to replicate the association of the IRS-1 G972R polymorphism with type 2 diabetes.	Control:3,532 control subjects;Case:4,279 type 2 diabetic cases										
128896	Y	birth weight	REPRODUCTION	REP	Birth Weight	2	2q36	IRS1	227308181	227372719		Bezerra, R. M.  et al. 2002	11874945	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Brazil	CDC GDPinfo	3667	Hs.471508			Diabetes care. 2002 Mar;25(3):550-3	The Gly972Arg polymorphism in insulin receptor substrate-1 is associated with decreased birth weight in a population-based sample of Brazilian newborns		147545	11959	2	2002	 These results suggest that the genotype Gly972Arg may influence birth weight, reinforcing the hypothesis that genetically determined insulin resistance and/or reduced insulin secretion can result in impaired insulin-mediated growth in the fetus.	Cohort 194 newborn children 										
128897		insulin	METABOLIC	MET	Insulin Resistance|Obesity	2	2q36	IRS1	227308181	227372719		Le Fur, S.  et al. 2002	12475767				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes. 2002 Dec;51 Suppl 3:S304-7	Increased insulin resistance in obese children who have both 972 IRS-1 and 1057 IRS-2 polymorphisms.		147545	11960	2	2002	Our results stress the need for combined genotype analysis when candidate genes are functionally involved in the same pathway.	Cohort 174/165 two cohorts of 174 and 165 obese Caucasian children 										
128898	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	2	2q36	IRS1	227308181	227372719		Liu, R.  et al. 2003	12910680				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Chinese		CDC GDPinfo	3667	Hs.471508			Sichuan da xue xue bao Yi xue ban. 2003 Jul;34(3):427-30	[Polymorphism of insulin receptor substrate-1 gene in patients with coronary heart diseases]		147545	11961	2	2003	 IRS-1 gene polymorphism is associated with coronary heart disease in Chinese population. The G/R and G/G genotype of IRS-1 gene contributes to the increasing of serum cholesterol and plasma glucose respectively.	Case:113 patients with coronary heart disease:Chengdu, China;Control:194 healthy Chengdu residents										
128892		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Armstrong M 1996	8641117				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			Diabetic medicine. 1996 Feb;13(2):133-8	Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.		147545	4078	1	1996												
128893		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Eftychi C 2004	14988278				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Canada|Europe	Y Wang	3667	Hs.471508			Diabetes. 2004 Mar;53(3):870-3	Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.		147545	4079	1	2004												
128894		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Esposito DL 2003	12679424				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2003 Apr;88(4):1468-75	A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling.		147545	4080	1	2003	We conclude that  a naturally occurring substitution of Arg for Thr(608) in IRS-1 is a rare human mutation that may contribute to insulin resistance by impairing metabolic signaling through PI 3-kinase-dependent pathways.											
128888		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	2	2q36	IRS1	227308181	227372719		Imai Y 1994	7989470				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 1994 Dec;79(6):1655-8	Variant sequences of insulin receptor substrate-1 in patients with noninsulin-dependent diabetes mellitus.		147545	4074	1	1994												
128889		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Laakso M 1994	8083355				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Finnish		Y Wang	3667	Hs.471508			The Journal of clinical investigation. 1994 Sep;94(3):1141-6	Insulin receptor substrate-1 variants in non-insulin-dependent diabetes.		147545	4075	1	1994												
128890		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Liu Z 1998	11038788				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Chinese		Y Wang	3667	Hs.471508			Zhonghua yi xue za zhi. 1998 Sep;78(9):662-5	Insulin receptor substrate-1 and glucose transporter gene polymorphisms in noninsulin-dependent diabetes mellitus		147545	4076	1	1998	 No association was found between the gene polymorphism of IRS-1 and NIDDM. THe Xba I (-) allele of GLUT1 gene might be taken as a genetic marker of NIDDM with diabetic nephropathy and this genetic susceptibility appears to be associated with the insulin resistance in patients with NIDDM.											
128891		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Almind K 1993	8104271				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			Lancet. 1993 Oct;342(8875):828-32	Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus.		147545	4077	1	1993												
128884		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Mori H1995	7673430				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	Y Wang	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 1995 Sep;80(9):2822-6	Amino acid polymorphisms of the insulin receptor substrate-1 in Japanese noninsulin-dependent diabetes mellitus.		147545	4070	1	1995												
128885		diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Coronary Disease|Hypertension|Diabetes Mellitus, Type 2|Hyperglycemia|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Ossei-Gerning N 1997	9218152				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508	Complications		Clinical and laboratory haematology. 1997 Jun;19(2):123-8	Insulin receptor substrate-1 gene polymorphism and cardiovascular risk in non-insulin dependent diabetes mellitus and patients undergoing coronary angiography.		147545	4071	1	1997												
128886		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Sesti G 2000	11256583				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			Pharmacogenomics. 2000 Aug;1(3):343-57	Insulin receptor substrate polymorphisms and type 2 diabetes mellitus.		147545	4072	1	2000	Results from targeted disruption of the IRS genes in mice have provided important clues as to the functional differences among these related molecules and suggest that they play very different roles in vivo.											
128887		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Hager J 1993	7901717				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	French	France	Y Wang	3667	Hs.471508			Lancet. 1993 Dec;342(8884):1430	Insulin receptor substrate (IRS-1) gene polymorphisms in French NIDDM families.		147545	4073	1	1993												
128880		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Shimokawa K 1994	8037748				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	Y Wang	3667	Hs.471508			Biochemical and biophysical research communications. 1994 Jul;202(1):463-9	Molecular scanning of the glycogen synthase and insulin receptor substrate-1 genes in Japanese subjects with non-insulin-dependent diabetes mellitus.		147545	4066	1	1994	We conclude that  the tandem repeat polymorphism in the glycogen synthase gene and the polymorphisms at codons 513 and 972 of the IRS-1 gene are not associated with a higher risk for the development of NIDDM in Japanese subjects.											
128881		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Body Weight	2	2q36	IRS1	227308181	227372719		Sigal RJ 1996	8636384	Codon 972			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 1996 Apr;81(4):1657-9	Codon 972 polymorphism in the insulin receptor substrate-1 gene, obesity, and risk of noninsulin-dependent diabetes mellitus.		147545	4067	1	1996	Exploratory subgroup analyses on our panel suggested a clustering of NIDDM, the codon 972 mutation, and overweight, raising the hypothesis that the mutation may predispose to NIDDM only in the presence of excess body weight.											
128882		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	2	2q36	IRS1	227308181	227372719		Strohmer B 2004	14687252				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			KGB	3667	Hs.471508			Journal of internal medicine. 2004 Jan;255(1):146-7	Lack of association of the Gly972Arg mutation of the insulin receptor substrate-1 gene with coronary artery disease in the Austrian population.		147545	4068	1	2004												
128876	Y	atherogenic profile	OTHER	OTH	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Marini MA 2003	12843189	Arg972 variant			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			KGB	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3368-71	The Arg972 variant in insulin receptor substrate-1 is associated with an atherogenic profile in offspring of type 2 diabetic patients.		147545	4062	1	2003	These results suggest that the Arg(972) IRS-1 variant could contribute to the risk for atherosclerotic cardiovascular diseases associated with type 2 diabetes by producing a cluster of insulin resistance-related metabolic abnormalities.	Cohort 153 glucose-tolerant, unrelated offspring of type 2 diabetic patients										
128877	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719	n	Hirashiki A 2003	14563588	3494G3A (Gly972Arg)			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	KGB	3667	Hs.471508			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		147545	4063	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
128878		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Ura S 1996	8739921				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	Y Wang	3667	Hs.471508			Diabetologia. 1996 May;39(5):600-8	Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphisms.		147545	4064	1	1996												
128872	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719	n	Koch M et al. 1999	10482045				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Germany	KGB	3667	Hs.471508			Experimental and clinical endocrinology & diabetes. 1999 ;107(5):318-22	Amino acid polymorphism Gly 972 Arg in IRS-1 is not associated to lower clamp-derived insulin sensitivity in young healthy first degree relatives of patients with type 2 diabetes.		147545	4058	1	1999												
128873	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	2	2q36	IRS1	227308181	227372719	n	Chuang LM et al. 1996	8732707				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Taiwanese	Taiwan	KGB	3667	Hs.471508			Diabetes care. 1996 May;19(5):446-9	No association between the Gly971Arg variant of the insulin receptor substrate 1 gene and NIDDM in the Taiwanese population.		147545	4059	1	1996												
128874	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719	0.0008	Federici M et al. 2003	12606535	Arg(972)			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Italy	Italy	Y Wang	3667	Hs.471508			Diabetes. 2003 Mar;52(3):887-90	The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continentalItaly		147545	4060	1	2003	Our findings suggest a role for Arg(972) IRS-1 in conferring risk for the development of type 1 diabetes.	Case type 1 diabetic subjects;Control:controls										
128875		human longevity	AGING	AGE		2	2q36	IRS1	227308181	227372719		Bonafe M 2003	12843179	insulin receptor substrate-1; G/A, codon 972			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			KGB	3667	Hs.471508			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3299-304	Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.		147545	4061	1	2003												
128868	Y	esophageal cancer	CANCER	CAN		19	19q13.3-q13.4	IRF3	54854640	54860926		Zhang, C. F.  et al. 2004	15303122				Interferon regulatory factor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001571.2	Chinese		CDC GDPinfo	3661	Hs.75254			Beijing da xue xue bao Yi xue ban. 2004 Aug;36(4):345-7	[Relationship between polymorphism of IRF-3 gene codon 427 and esophageal cancer in Anyang population of China]		603734	11956	2	2004	The SNPs at codon 427 of the IRF-3 gene may relate to the susceptibility of esophageal cancer. The risk of esophageal cancer in participants with C allele is 2.38-fold compared to those with G allele.	Case:152 esophageal cancer patients Anyang area, Henan Province, China;Control:191 healthy controls										
128869	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q32	IRF5	128365229	128377324		Sigurdsson, S.  et al. 2005	15657875				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3		Finland|Iceland|Sweden	CDC GDPinfo	3663	Hs.521181			American journal of human genetics. 2005 Mar;76(3):528-37	Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus		607218	11957	2	2005	Thus, our results support a disease mechanism in SLE that involves key components of the type I IFN system.	Control:438/798 unrelated control individuals (n=438) and unaffected family members (n=798);Case:679 Swedish, Finnish, and Icelandic patients with systemic lupus erythematosus										
128871		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	1	1q32.3-q41	IRF6	208027884	208046102		Srichomthong, C.  et al. 2005	15994871				Interferon regulatory factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006147.2	Thai		CDC GDPinfo	3664	Hs.591415			Journal of medical genetics. 2005 Jul;42(7):e46	Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population.		607199	17828	2	2005	 The findings confirm that IRF6 820G-->A is associated with CL/P.											
128864		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Donn, R. P.  et al. 2001	11315919				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDPinfo	3659	Hs.436061			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147575	27950	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
128866	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	4	4q34.1-q35.1	IRF2	185545908	185632697	0.0017	Foerster J 2004	14962090	921G/A SNP in exon 9			Interferon regulatory factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002199.2			KGB	3660	Hs.374097			The Journal of investigative dermatology. 2004 Jan;122(1):61-4	Evaluation of the IRF-2 gene as a candidate for PSORS3.		147576	4056	1	2004												
128867	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	4	4q34.1-q35.1	IRF2	185545908	185632697		Nishio, Y.  et al. 2001	11721886				Interferon regulatory factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002199.2	Japanese		CDC GDPinfo	3660	Hs.374097			Journal of human genetics. 2001 ;46(11):664-7	Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitis.		147576	17827	2	2001	Our data suggest that IRF-2 plays some role in the development of AD in the Japanese population.	Cohort atopic dermatitis patients ;Control controls not otherwise specified in abstract										
128861	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158		Nakao, F.  et al. 2001	11240951				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		CDC GDPinfo	3659	Hs.436061			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147575	26325	2	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population 										
128862		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	5	5q31.1	IRF1	131846683	131859158		Hattori, H.  et al. 2002	12420205				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		CDC GDPinfo	3659	Hs.436061			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147575	27522	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
128863		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	5	5q31.1	IRF1	131846683	131859158		Forre, O.  et al. 2002	12195624				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDPinfo	3659	Hs.436061			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		147575	27949	2	2002	Review article											
128857	N	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158		Noguchi, E.  et al. 2000	11069564				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		CDC GDPinfo	3659	Hs.436061			Clinical and experimental allergy. 2000 Nov;30(11):1562-7	Mutation screening of interferon regulatory factor 1 gene (IRF-1) as a candidate gene for atopy/asthma.		147575	17825	2	2000	 The IRF-1 gene is less likely to play a substantial role in the development of atopy and asthma in the Japanese population.	Case atopic asthmatics:Japan;Control non-atopic controls										
128858		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Lee, J. E.  et al. 2004	14764039				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Korean	Korea	CDC GDPinfo	3659	Hs.436061			International journal of gynecological cancer. 2004 Jan-Feb;14(1):118-25	Gene-gene and gene-environmental interactions of p53, p21, and IRF-1 polymorphisms in Korean women with cervix cancer		147575	22635	2	2004	 We found that the level of education, the age at first intercourse, and the number of children were independent risk factors in cervix carcinogenesis. The specific combinations of p53, p21, and IRF-1 gene-gene and gene-environmental interactions were significantly noted in the cervix carcinogenesis of Korean women.	Case:185 Korean cervical cancer patients;Control:345 normal healthy women	age at first sexual intercourse parity									
128860		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Yang, Y.  et al. 2005	16195814				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Chinese		CDC GDPinfo	3659	Hs.436061			Journal of human genetics. 2005 ;50(11):574-82	Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves' disease.		147575	25107	2	2005												
128853	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1	IRF1	131846683	131859158	n	Johannesen J et al. 1997	9442805				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Danish	Denmark	KGB	3659	Hs.436061			European journal of immunogenetics. 1997 Oct;24(5):377-83	No association or linkage to IDDM of an interferon regulatory factor-1 gene polymorphism in a Danish population. The Danish Study Group for Diabetes in Childhood.		147575	4052	1	1997												
128854	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158	n	Noguchi E 2000	11069564	G-300T			Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		KCB	3659	Hs.436061			Clinical and experimental allergy. 2000 Nov;30(11):1562-7			147575	4053	1	2000	 The IRF-1 gene is less likely to play a substantial role in the development of atopy and asthma in the Japanese population.											
128855	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158	n	Noguchi E 2000	11069564	A4396G			Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		KCB	3659	Hs.436061			Clinical and experimental allergy. 2000 Nov;30(11):1562-7			147575	4054	1	2000	 The IRF-1 gene is less likely to play a substantial role in the development of atopy and asthma in the Japanese population.											
128856	Y	hepatitis C, chronic	INFECTION	INF		5	5q31.1	IRF1	131846683	131859158		Saito, H.  et al. 2005	15863386			promoter	Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDPinfo	3659	Hs.436061			Hepatology research. 2005	Contribution of Irf-1 promoter polymorphisms to the Th1-type cell response and interferon-beta monotherapy for chronic hepatitis C.		147575	11955	2	2005	These results suggest that IRF-1 promoter polymorphisms may contribute, at least partially, to host antiviral activity for chronic hepatitis C.	Cohort 18 patients with a low initial viral load or hepatitis C virus (HCV) genotype non-1b who received 6-months course of interferon-beta monotherapy 	interferon									
128849	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	15	15q25.1	IREB2	76517680	76578522		Lee, P. L.  et al. 2002	12465072				Iron-responsive element binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004136.1			CDC GDPinfo	3658	Hs.436031			Movement disorders. 2002 Nov;17(6):1302-4	Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease		147582	11949	2	2002	We conclude that  these IRP2 polymorphisms do not play an important role in the development of sporadic cases of PD. It remains to be determined whether other polymorphisms in IRP2 play a role in familial PD.	Case subjects with sporadic Parkinson's disease;Control normal controls										
128850	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	5	5q31.1	IRF1	131846683	131859158	n	Vandenbroeck K 2000	11196707				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Germany. Northern Italy. Sardinia. and Sweden	Germany|Italy|Sweden	KGB	3659	Hs.436061			Genes and immunity. 2000 ;1(4):290-2			147575	4049	1	2000												
128851	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158	n	Noguchi E 2000	11069564	G6355A			Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Japanese		KCB	3659	Hs.436061			Clinical and experimental allergy. 2000 Nov;30(11):1562-7			147575	4050	1	2000	 The IRF-1 gene is less likely to play a substantial role in the development of atopy and asthma in the Japanese population.											
128852		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IRF1	131846683	131859158		Nakao F 2001	11240951	(GT)n			Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			KCB	3659	Hs.436061			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504			147575	4051	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.											
128846		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Glucose Intolerance	13	13q12.1	IPF1	27392177	27397394		Weng, J.  et al. 2002	11772903				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1	Swedish	Sweden	CDC GDPinfo	3651	Hs.32938			Diabetes care. 2002 Jan;25(1):68-71	Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.		600733	25106	2	2002	 MODY mutations but not autoimmunity contribute to GDM in Swedish women with a family history of diabetes and increase the risk of subsequent diabetes.	Case:66 Swedish women with gestational diabetes mellitus:Sweden;Control:82 type 2 diabetic patients;Control:86 healthy controls										
128847	Y	bone density	METABOLIC	MET		X	Xq28	IRAK1	152929150	152938536		Ishida, R.  et al. 2003	12619925				Interleukin-1 receptor-associated kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001569.3			CDC GDPinfo	3654	Hs.522819			Journal of bone and mineral research. 2003 Mar;18(3):419-23	Association of a haplotype (196Phe/532Ser) in the interleukin-1-receptor-associated kinase (IRAK1) gene with low radial bone mineral density in two independent populations.		300283	17824	2	2003	These results suggest that variation of IRAK1 may be an important determinant of postmenopausal osteoporosis, in part through the mechanism of accelerated postmenopausal bone loss.	Cohort 220/126 postmenopausal women from two independent 										
128848		recurrent bacterial infections	INFECTION	INF	Bacterial Infections|Inflammation	12	12q12	IRAK4	42439046	42468166		Medvedev AE 2003	12925671				Interleukin-1 receptor-associated kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016123.1			KGB	51135	Hs.138499			The Journal of experimental medicine. 2003 Aug;198(4):521-31	Distinct mutations in IRAK-4 confer hyporesponsiveness to lipopolysaccharide and interleukin-1 in a patient with recurrent bacterial infections.		606883	6762	1	2003												
128842	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Weng, J.  et al. 2001	11270685				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1		Scandinavia	CDC GDPinfo	3651	Hs.32938			Diabetologia. 2001 Feb;44(2):249-58	Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations.		600733	17820	2	2001	Although mutations in the IPF-1 gene are rare in early- (3.5 %) and late-onset (2.7 % ) Type II diabetes, they are functionally important and occur also in families with other MODY mutations.	Case:183 unrelated patients with late onset type 2 diabetes;Control:92 non-diabetic control subjects										
128843	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Glucose Intolerance	13	13q12.1	IPF1	27392177	27397394		Cockburn, B. N.  et al. 2004	14764823			promoter	Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1		Africa|Trinidad and Tobago|India	CDC GDPinfo	3651	Hs.32938			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):971-8	Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a noveldiabetes-associated mutation (E224K) in an Indo-Trinidadian family.		600733	17821	2	2004	Functional studies of E224K showed reduced transactivation activity. IPF1 mutations leading to synthesis of a mutant protein may contribute to the development of familial early-onset diabetes/maturity-onset diabetes of the young in Indo-Trinidadians.	Cohort 264 unrelated subjects with type 2 diabetes diagnosed before 40 yr of age and a family history of diabetes 										
128844	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Shiau, M. Y.  et al. 2004	15754742			promoter	Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1	Taiwanese	Taiwan	CDC GDPinfo	3651	Hs.32938			Journal of endocrinological investigation. 2004 Dec;27(11):1076-80	Missense mutations in the human insulin promoter factor-1 gene are not a common cause of type 2 diabetes mellitus in Taiwan.		600733	17822	2	2004	Our results suggested that IPF-1 mutations were not a common cause associated with Taiwanese T2DM.	Control:194 non-diabetic controls;Case:434 patients with type 2 diabetes:Taiwan										
128839	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Chevre JC 1998	9754819				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1			Y Wang	3651	Hs.32938	MODY		Diabetologia. 1998 Sep;41(9):1017-23	Mutation screening in 18 Caucasian families suggest the existence of other MODY genes		600733	4047	1	1998												
128840		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Reis AF 2000	11022198				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1	French	France	Y Wang	3651	Hs.32938	Complications		European journal of endocrinology. 2000 Oct;143(4):511-3	Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.		600733	4048	1	2000	 We have observed a combined prevalence of missense variants in the coding region of the IPF-1 gene of around 1%, in unselected patients with the common form of late-onset type 2 diabetes. The prevalence of these variants in subjects with a strong family history of type 2 diabetes had been found to be as high as approximately 6%. These differences in prevalence might be related to differences in the clinical profile of patients, such as age of onset of diabetes and associated obesity, as well as a family history of diabetes.	Control:147:controls;Case:296 unrelated French late-onset type 2 diabetic subjects consecutively recruited in a diabetes department of a university hospital, regardless of family history of diabetes										
128841		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Reis, A. F.  et al. 2000	11022198			promoter	Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1		France	CDC GDPinfo	3651	Hs.32938			European journal of endocrinology. 2000 Oct;143(4):511-3	Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.		600733	17819	2	2000	 We have observed a combined prevalence of missense variants in the coding region of the IPF-1 gene of around 1%, in unselected patients with the common form of late-onset type 2 diabetes. The prevalence of these variants in subjects with a strong family history of type 2 diabetes had been found to be as high as approximately 6%. These differences in prevalence might be related to differences in the clinical profile of patients, such as age of onset of diabetes and associated obesity, as well as a family history of diabetes.	Control:147:controls;Case:296 unrelated French late-onset type 2 diabetic subjects consecutively recruited in a diabetes department of a university hospital, regardless of family history of diabetes										
128835		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	1	1q21-q23	INSRR	155077288	155095290		Wolford JK 2001	11513557				Insulin receptor-related receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014215.1	Pima Indians	Arizona	Y Wang	3645	Hs.248138			Molecular and cellular probes. 2001 Aug;15(4):223-7	Polymorphism screening of the insulin receptor-related receptor gene (INSRR) on 1q in Pima Indians.		147671	4044	1	2001	We conclude that  INSRR has no detectable mutations contributing to diabetes in the Pima Indians. However, information on the novel markers may prove useful for association studies of this candidate gene in other populations.											
128836		nephronophthisis type 2	OTHER	OTH	Kidney Diseases, Cystic|Polycystic Kidney, Autosomal Recessive|Situs Inversus|	9	9q31	INVS	101901331	102103247		Otto EA 2003	12872123				Inversin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014425.2			KGB	27130	Hs.558477			Nature genetics. 2003 Aug;34(4):413-20	Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.		243305	6745	1	2003												
128837		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Silver K 2002	11914043				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1			Y Wang	3651	Hs.32938			Molecular genetics and metabolism. 2002 Mar;75(3):287-9	IPF-1 gene variation and the development of type 2 diabetes.		600733	4045	1	2002												
128838		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	13	13q12.1	IPF1	27392177	27397394		Yamada K 2004	9628281				Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1	Japanese		Y Wang	3651	Hs.32938			Diabetologia. 1998 May;41(5):603-5	Identification of a single nucleotide insertion polymorphism in the upstream region of the insulin promoter factor-1 gene: an association study with diabetes mellitus.		600733	4046	1	2004												
128832		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Barroso, I.  et al. 2003	14551916				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		147670	25105	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
128833		polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	19	19p13.3-p13.2	INSR	7063265	7245011		Tucci, S.  et al. 2001	11232039				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Caucasian		CDC GDPinfo	3643	Hs.591381			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):446-9	Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus		147670	26324	2	2001	In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. It remains to be determined if this susceptibility gene is the insulin receptor gene itself or a closely located gene. Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS.	Case:85 Caucasian polycystic ovarian syndrome patients;Control:87 age-matched Caucasian control women										
128834		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Watanabe, I.  et al. 2003	12732844				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Japanese	Japan	CDC GDPinfo	3643	Hs.591381			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		147670	28560	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
128829		longevity	AGING	AGE		19	19p13.3-p13.2	INSR	7063265	7245011		Kojima, T.  et al. 2004	15582274				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Japanese		CDC GDPinfo	3643	Hs.591381			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		147670	22632	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
128830		body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Metabolic Syndrome X|Hypercholesterolemia|Hypertriglyceridemia	19	19p13.3-p13.2	INSR	7063265	7245011		Sanchez-Corona, J.  et al. 2004	14693412				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Mexican	Mexico	CDC GDPinfo	3643	Hs.591381			Diabetes research and clinical practice. 2004 Jan;63(1):47-55	Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings.		147670	22633	2	2004	These findings suggest that the insulin gene may be an important determinant of metabolic syndrome, and particularly of dyslipidemia, in this population.	Cohort 163 individuals from Yucatan, Mexico Yucatan, Mexico 										
128831		diabetes, type 2; hypertension; insulin; obesity	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity	19	19p13.3-p13.2	INSR	7063265	7245011		Flores-Martinez, S. E.  et al. 2004	15581831				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Mexican	Mexico	CDC GDPinfo	3643	Hs.591381			Ann Genet. 2004 Oct-Dec;47(4):339-48	DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group.		147670	22634	2	2004	From statistical analysis carried out here, individually, the Pst I, Nsi I and Gly972Arg polymorphisms were not associated with the type 2 diabetes, obese or hypertensive phenotypes in this population. Nevertheless, there was an association between the Nsi I and Pst I polymorphisms and increased serum insulin levels.	Cohort 73 individuals from Santiago Jamiltepec, a population with a high prevalence of type 2 diabetes Mexico 										
128826	N	insulin	METABOLIC	MET	Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Wang, L.  et al. 2004	15745246	exon 17			Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1		China	CDC GDPinfo	3643	Hs.591381			Biomedical and environmental sciences. 2004 Dec;17(4):418-25	Polymorphisms of exon 17 of insulin-receptor gene in pathogenesis of human disorders with insulin resistance.		147670	11947	2	2004	 SNPs of Exon 17 of INSR gene are unlikely to play a direct role in the pathogenesis of human disorders with insulin resistance.	Control:controls;Case:345 Chinese patients with insulin resistance										
128827		insulin; polycystic ovary syndrome	METABOLIC	MET		19	19p13.3-p13.2	INSR	7063265	7245011		Jin, L.  et al. 2005	15938783	exon 17			Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			Zhonghua fu chan ke za zhi. 2005 May;40(5):323-6	[Polymorphism in insulin receptor gene exon 17 in women with polycystic ovary syndrome]		147670	11948	2	2005	 There is polymorphism in INSR gene exon 17 in patients with PCOS. This variant leads to increased risk of IR in women with PCOS. It does not influence the expression of INSR beta subunit.											
128828		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Deng, J.  et al. 2002	12575209				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Chinese		CDC GDPinfo	3643	Hs.591381			Hua xi yi ke da xue xue bao. 2002 Apr;33(2):278-80	[Relation between insulin resistance and A1166C molecular variant of type 1 angiotensin II receptor gene in patients with coronary heart disease]		147670	17818	2	2002	 No significant association between A1166C molecular variant of AT1R gene and insulin resistance was found in Chinese with CHD.	Control:80 healthy people;Case:90 Chinese patients with coronary heart disease										
128823	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Siegel, S.  et al. 2002	12477518				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			Fertility and sterility. 2002 Dec;78(6):1240-3	A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome.		147670	11944	2	2002	The INSR gene is a susceptibility gene for PCOS among lean patients with PCOS. It remains to be determined whether the exon 17 C/T single nucleotide polymorphism is the susceptibility single nucleotide polymorphism for PCOS or whether it is in linkage disequilibrium with another INSR gene polymorphism.	Control:136 healthy controls;Case:99 women with polycystic ovary syndrome										
128824	Y	triglycerides; insulin	METABOLIC	MET	Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Wang, L.  et al. 2004	15061947				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Chinese	China	CDC GDPinfo	3643	Hs.591381			Zhonghua liu xing bing xue za zhi. 2004 Jan;25(1):49-53	[Study on the relationship between polymorphism of insulin-receptor gene EXON2-2257 and insulin resistance in Chinese people]		147670	11945	2	2004	 The hybridization CT genotype at the site of 2257 in EXON2 of insulin-receptor gene might have a candidate gene to serve as a protective factor for insulin resistance.	Case subjects with insulin resistance:China;Control:controls										
128825	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Chen, Z. J.  et al. 2004	15498182				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			Zhonghua fu chan ke za zhi. 2004 Sep;39(9):582-5	[Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome.]		147670	11946	2	2004	 (1) The body weight and gene single nucleotide polymorphism of INSR may play an important role in the occurrence of insulin resistance in patients with PCOS. (2) The 1058 site nucleotide polymorphism of insulin receptor gene is one of the susceptibility genes in patients with PCOS, especially in non-obese PCOS patients.	Case:120 patients with polycystic ovary syndrome;Control:40 normal females										
128820	Y	diabetes	METABOLIC	MET	Diabetes Mellitus, Type 1|Insulin Resistance|Chromosome Deletion	19	19p13.3-p13.2	INSR	7063265	7245011		Taira M et al. 1989	2544997				insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Science. 1989 Jul;245(4913):63-6	Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.		147670	4043	1	1989												
128821	Y	migraine	OTHER	OTH	Migraine Disorders|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		McCarthy, L. C.  et al. 2001	11735220				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			Genomics. 2001 Dec;78(3):135-49	Single-Nucleotide Polymorphism Alleles in the Insulin Receptor Gene Are Associated with Typical Migraine		147670	11942	2	2001	Five single-nucleotide polymorphisms within the insulin receptor gene showed significant association with migraine. This association was independently replicated in a case-control population collected separately.	Cohort 765 controls not otherwise specified in abstract ;Case:827 unrelated migraine cases										
128822	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Puzniak, A.  et al. 2002	12420346				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDPinfo	3643	Hs.591381			Polski merkuriusz lekarski. 2002 Aug;13(74):137-9	[Insulin receptor gene polymorphism in myocardial infarction patients]		147670	11943	2	2002	An association was found between N2 allele and myocardial infarction, particularly in patients with normal body weight and/or with positive family history.	Case:100 myocardial infarct patients;Control:140 healthy individuals										
128816	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Cox NJ 1989	2565838				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1989 May;38(5):653-8	Linkage studies on NIDDM and the insulin and insulin-receptor genes.		147670	4039	1	1989	We conclude that  the INS and INSR loci can be ruled out as major susceptibility loci for NIDDM in most Black families segregating this disorder, but we recognize that defects at either of these loci may cause or contribute to NIDDM in some patients. In addition, it is possible that variation at the INS and/or INSR loci may contribute to NIDDM susceptibility by modifying susceptibility due primarily to another major gene(s) or as part of an overall polygenic component to NIDDM.											
128818		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Elbein SC 1992	1348997				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1992 May;41(5):648-56	Linkage analysis of insulin-receptor gene in familial NIDDM.		147670	4041	1	1992												
128819		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Elbein SC 1993	8432414				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1993 Mar;42(3):429-34	Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM.		147670	4042	1	1993												
128812		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Elbein SC 1989	2566545				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1989 Jun;38(6):737-43	Molecular and clinical characterization of an insertional polymorphism of the insulin-receptor gene.		147670	4035	1	1989												
128813		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Galton DJ 1988	2907293				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Caucasian		Y Wang	3643	Hs.591381			Biomedica biochimica acta. 1988 ;47(5-Apr):323-7	Genetic variants of the insulin receptor in type II (non-insulin dependent) diabetes mellitus.		147670	4036	1	1988												
128814		diabetes, type 1	IMMUNE	IMM	Cell Transformation, Viral|Diabetes Mellitus, Type 1|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Imano E 2004	1673662				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1991 May;40(5):548-57	Two patients with insulin resistance due to decreased levels of insulin-receptor mRNA		147670	4037	1	2004												
128815		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Li SR 1988	2906902				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Japanese	Japan|England	Y Wang	3643	Hs.591381			Human heredity. 1988 ;38(5):273-6	DNA polymorphisms of the insulin receptor gene in Japanese subjects with non-insulin-dependent diabetes mellitus.		147670	4038	1	1988												
128808		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Birth Weight	19	19p13.3-p13.2	INSR	7063265	7245011		Lindsay RS 2003	12502511				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Pima Indians		Y Wang	3643	Hs.591381			Diabetes. 2003 Jan;52(1):187-93	The insulin gene variable number tandem repeat class I/III polymorphism is in linkage disequilibrium with birth weight but not Type 2 diabetes in the Pima population.		147670	4031	1	2003												
128809		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		McClain DA 1988	2899037				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381	Complications		Diabetes. 1988 Aug;37(8):1071-5	Restriction-fragment-length polymorphism in insulin-receptor gene and insulin resistance in NIDDM.		147670	4032	1	1988												
128810		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Menzel S 1990	1982987				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Biomedica biochimica acta. 1990 ;49(12):1233-5	Bgl II-restriction fragment length polymorphism of the insulin receptor gene in patients with type-II diabetes mellitus.		147670	4033	1	1990												
128811		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	19	19p13.3-p13.2	INSR	7063265	7245011		Morgan R 1990	1978826				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Welsh	Wales	Y Wang	3643	Hs.591381			Diabetes. 1990 Dec;39(12):1479-84	Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population.		147670	4034	1	1990												
128804		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Oda N 2001	11398136				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Japanese	Japan	Y Wang	3643	Hs.591381			Metabolism:  clinical and experimental. 2001 Jun;50(6):631-4	Polymorphisms of the insulin gene among Japanese subjects.		147670	4027	1	2001												
128805		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Raboudi SH 1989	2568958				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes. 1989 Aug;38(8):975-80	Type II diabetes mellitus and polymorphism of insulin-receptor gene in Mexican Americans.		147670	4028	1	1989												
128806		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Taylor SI 1990	1968373				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetes care. 1990 Mar;13(3):257-79	Mutations in insulin-receptor gene in insulin-resistant patients.		147670	4029	1	1990												
128807		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Trembath RC 87	2894731				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Verh Dtsch Ges Inn Med. 1987 ;93:495-8	DNA polymorphisms of the insulin receptor gene and non-insulin-dependent diabetes mellitus.		147670	4030	1	1987												
128801	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3-p13.2	INSR	7063265	7245011		Zee RY et al. 1994	7769500			intron	Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Journal of hypertension Supplement. 1994 ;12(7):S13-22	Insertion variant in intron 9 but not microsatellite in intron 2 of the insulin receptor gene is associated with essential hypertension.		147670	4024	1	1994	 The present study allows definition of the hypertension-associated variants of INSR as those which are in linkage disequilibrium with a (CA)-repeat insertion polymorphism in intron 9 of the large, 22 exon, > 120-kb gene, but not those associated with a polymorphism in the second intron.											
128802	Y	diastolic blood pressure	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Obesity|Syndrome	19	19p13.3-p13.2	INSR	7063265	7245011		Thomas GN et al. 2000	10933564				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Chinese	China	KGB	3643	Hs.591381			American journal of hypertension. 2000 Jul;13(7):745-52	An insulin receptor gene polymorphism is associated with diastolic blood pressure in Chinese subjects with components of the metabolic syndrome.		147670	4025	1	2000												
128803		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Xiang KS 1989	2562831				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Chinese	China	Y Wang	3643	Hs.591381			Diabetes. 1989 Jan;38(1):17-23	Insulin-receptor and apolipoprotein genes contribute to development of NIDDM in Chinese Americans.		147670	4026	1	1989												
128797	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	19	19p13.3-p13.2	INSR	7063265	7245011		Tucci S et al. 2001	11232039				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	caucasian		KGB	3643	Hs.591381			The Journal of clinical endocrinology and metabolism. 2001 Jan;86(1):446-9	Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus.		147670	4020	1	2001	In conclusion, our results suggested that a susceptibility gene for PCOS was located on chromosome 19p13.3 in the insulin receptor gene region. It remains to be determined if this susceptibility gene is the insulin receptor gene itself or a closely located gene. Since insulin stimulates androgen secretion by the ovarian stroma it is likely that INSR function in the ovary is involved in the genetic susceptibility ot PCOS.	Case:85 Caucasian polycystic ovarian syndrome patients;Control:87 age-matched Caucasian control women										
128798		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3-p13.2	INSR	7063265	7245011		Schrader AP et al. 1996	8740916				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Clinical genetics. 1996 Feb;49(2):74-8	Association analyses of NsiI RFLP of human insulin receptor gene in hypertensives.		147670	4021	1	1996												
128799		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3-p13.2	INSR	7063265	7245011		Ying LH et al. 1991	1683535				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Biochemical and biophysical research communications. 1991 Nov;181(1):486-92	Association of a RFLP for the insulin receptor gene but not insulin with essential hypertension.		147670	4022	1	1991												
128793		insulin resistance	METABOLIC	MET	Insulin Resistance|Syndrome	19	19p13.3-p13.2	INSR	7063265	7245011		Muller-Wieland D et al. 1993	8270132				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Diabetologia. 1993 Nov;36(11):1168-74	An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome.		147670	4016	1	1993												
128794	Y	decreased levels of insulin-receptor messenger ribonucleic acid	OTHER	OTH	Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Suzuki Y et al. 1995	7714091				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			The Journal of clinical endocrinology and metabolism. 1995 Apr;80(4):1214-20	Insulin resistance associated with decreased levels of insulin-receptor messenger ribonucleic acid: evidence of a de novo mutation in the maternal allele.		147670	4017	1	1995												
128795	Y	hyperlipidemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Osawa H et al. 2001	11846745				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Japanese	Japan	KGB	3643	Hs.591381			Clinical genetics. 2001 Dec;60(6):479-81	A systematic search for single nucleotide polymorphisms (SNPs) in the insulin receptor gene: association of an SNP with hyperlipidemia in Japanese type 2 diabetic subjects.		147670	4018	1	2001												
128788	Y	typical migraine	OTHER	OTH	Migraine Disorders|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		McCarthy LC et al. 2001	11735220				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Genomics. 2001 Dec;78(3):135-49	Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine.		147670	4011	1	2001	Five single-nucleotide polymorphisms within the insulin receptor gene showed significant association with migraine. This association was independently replicated in a case-control population collected separately.	Cohort 765 controls not otherwise specified in abstract ;Case:827 unrelated migraine cases										
128789	Y	leprechaunism	OTHER	OTH	Insulin Resistance|Endocrine System Diseases|Syndrome|Developmental Disabilities	19	19p13.3-p13.2	INSR	7063265	7245011		Haruta T et al. 1995	7536883			promoter	Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Metabolism:  clinical and experimental. 1995 Apr;44(4):430-7	Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance.		147670	4012	1	1995												
128790	Y	Insulin-resistant diabetes	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance|Chromosome Deletion	19	19p13.3-p13.2	INSR	7063265	7245011		Shimada F et al. 1990	1971035				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Lancet. 1990 May;335(8699):1179-81	Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.		147670	4013	1	1990												
128784	N	cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320		Marin, P.  et al. 2001	11383919				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDPinfo	3640	Hs.37062			Journal of endocrinological investigation. 2001 Apr;24(4):RC13-5	Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism		146738	17817	2	2001	This study confirms previous observations and demonstrates a novel polymorphism in the INSL3 gene. In contrast to that described for the mutant mouse, these data indicate that mutations of INSL3 do not seem to represent a frequent cause of cryptorchidism.	Control group of control subjects not otherwise specified;Case:65 ex-cryptorchid patients										
128785	Y	polycystic ovarian disease	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Siegel S 2002	12477518			other	Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KEW	3643	Hs.591381			Fertility and sterility. 2002 Dec;78(6):1240-3	A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome.		147670	4008	1	2002	The INSR gene is a susceptibility gene for PCOS among lean patients with PCOS. It remains to be determined whether the exon 17 C/T single nucleotide polymorphism is the susceptibility single nucleotide polymorphism for PCOS or whether it is in linkage disequilibrium with another INSR gene polymorphism.	Control:136 healthy controls;Case:99 women with polycystic ovary syndrome										
128786	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	19	19p13.3-p13.2	INSR	7063265	7245011		Villuendas G et al. 2003	12524094				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1		Italy|Spain	KGB	3643	Hs.591381			Fertility and sterility. 2003 Jan;79(1):219-20	Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome.		147670	4009	1	2003												
128781	Y	cryptorchidism.	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320		Tomboc M et al. 2000	11095425				insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			KGB	3640	Hs.37062			The Journal of clinical endocrinology and metabolism. 2000 Nov;85(11):4013-8	Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.		146738	4007	1	2000	The frequency of INSL3/RLF gene mutations as a cause of cryptorchidism is low, because only 2 of 145 (1.4%) formerly cryptorchid patients were found to have mutations.	Case:145 formerly cryptorchid patients;Control:36 adult male controls										
128782	Y	cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320		Tomboc, M.  et al. 2000	11095425				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDPinfo	3640	Hs.37062			The Journal of clinical endocrinology and metabolism. 2000 Nov;85(11):4013-8	Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.		146738	17815	2	2000	The frequency of INSL3/RLF gene mutations as a cause of cryptorchidism is low, because only 2 of 145 (1.4%) formerly cryptorchid patients were found to have mutations.	Case:145 formerly cryptorchid patients;Control:36 adult male controls										
128783	N	testis, maldescent of the	UNKNOWN	UNK	Genital Diseases, Male|Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320		Lim, H. N.  et al. 2001	11182749				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDPinfo	3640	Hs.37062			European journal of endocrinology. 2001 Feb;144(2):129-37	Genetic analysis of the INSL3 gene in patients with maldescent of the testis		146738	17816	2	2001	 The evidence suggests that INSL3 mutations and polymorphisms are not a major cause of testicular maldescent with or without associated undermasculinisation.	Control:15 normal males;Case:24 patients with undermasculinised genitalia and intra-abdominal gonads;Case:28 individuals with isolated testicular maldescent;Control:29 males with undermasculinised genitalia and scrotal:gonads;Case:33 patients with undermasculinised genitalia and inguinal gonads;Control:82:females										
128777		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015			16390390				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Pediatric diabetes. 2005 Dec;6(4):213-20	Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus		176730	26323	2	2005												
128778		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Hauache, O. M.  et al. 2005	16276008				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Brazil	CDC GDPinfo	3630	Hs.89832			Disease markers. 2005 ;21(3):139-45	Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes.		176730	27053	2	2005												
128779	N	cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320	n	Takahashi I et al. 2001	11380919				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2	Japanese	Japan	KGB	3640	Hs.37062			Pediatrics international. 2001 Jun;43(3):256-8	Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population.		146738	4005	1	2001	 No mutation has been found in the INSL3 gene from Japanese patients with idiopathic cryptorchidism. We did find the A60T polymorphism, which was not associated with the occurrence of cryptorchidism.											
128780	N	cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320	n	Marin P et al. 2001	11383919				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			KGB	3640	Hs.37062			Journal of endocrinological investigation. 2001 Apr;24(4):RC13-5	Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism.		146738	4006	1	2001	This study confirms previous observations and demonstrates a novel polymorphism in the INSL3 gene. In contrast to that described for the mutant mouse, these data indicate that mutations of INSL3 do not seem to represent a frequent cause of cryptorchidism.	Control group of control subjects not otherwise specified;Case:65 ex-cryptorchid patients										
128773		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Cinek, O.  et al. 2003	12639765				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Czech	Czech Republic	CDC GDPinfo	3630	Hs.89832			Diabetes research and clinical practice. 2003 Apr;60(1):49-56	NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.		176730	25102	2	2003	Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.	Case:285 Czech children with type 1 diabetes mellitus;Control:289 non-diabetic control children										
128775		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Motzo, C.  et al. 2004	15561961				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Diabetes. 2004 Dec;53(12):3286-91	Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.		176730	25104	2	2004	These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity.	Control:1,023 control subjects;Case:944 type 1 diabetic patients:Sardinia										
128776		beta cell autoimmunity	IMMUNE	IMM	Autoimmune Diseases	11	11p15.5	INS	2106922	2139015		Hermann, R.  et al. 2005	16025255				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Finland	CDC GDPinfo	3630	Hs.89832			Diabetologia. 2005 Sep;48(9):1766-75	The effect of HLA class II, insulin and CTLA4 gene regions on the development of humoral beta cell autoimmunity.		176730	26322	2	2005												
128769		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Majores, M.  et al. 2002	12111440				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			J Neural Transm. 2002 Jul;109(8-Jul):1029-34	The insulin gene VNTR polymorphism in Alzheimer's disease: results of a pilot study.		176730	22628	2	2002	Our preliminary results suggest, that genetically determined alterations of the INS/IGF-2 metabolism might modify the course of AD. Further studies are warranted to confirm these data in larger study samples.											
128770	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Diabetes Mellitus	11	11p15.5	INS	2106922	2139015		Ho, G. Y.  et al. 2003	12610512				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			British journal of cancer. 2003 Jan;88(2):263-9	Polymorphism of the insulin gene is associated with increased prostate cancer risk.		176730	22629	2	2003	The polymorphism of INS may play a role in the aetiology of prostate cancer. Given the high prevalence of the CC genotype and its association with late age of onset of low-grade tumours, this polymorphism may contribute to the unique characteristics of prostate cancer, namely a high prevalence of indolent cancers and the dramatic increase in incidence with age.	Case:126 prostate cancer cases;Control:126 paired controls matched on age, race and countries of origin										
128772	Y	insulin; obesity	METABOLIC	MET	Obesity|Birth Weight	11	11p15.5	INS	2106922	2139015		Rodriguez, S.  et al. 2006	16251897				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			European journal of human genetics. 2006 Jan;14(1):109-16	Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes.		176730	22631	2	2005												
128766		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	11	11p15.5	INS	2106922	2139015		Shaat, N.  et al. 2004	15095040				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Scandinavia	CDC GDPinfo	3630	Hs.89832			Diabetologia. 2004 May;47(5):878-84	Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus.		176730	22625	2	2004	Gestational diabetes mellitus was associated with the presence of GAD65Ab in both study groups. Scandinavian women with gestational diabetes may share some genetic features with Type 1 diabetes. In addition, Arabian women with gestational diabetes are more insulin resistant than Scandinavian women with gestational diabetes and with the same BMI.	Case:500 unrelated women with gestational diabetes (400 Scandinavian and 100 Arabian);Control:550 unrelated pregnant non-diabetic control women (428 Scandinavian and 122 Arabian) matched for ethnicity										
128767		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Barroso, I.  et al. 2003	14551916				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		176730	22626	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
128768		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11p15.5	INS	2106922	2139015		Neuhausen, S. L.  et al. 2005	15678496				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			The Prostate. 2005 Jul;64(2):168-74	Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972Rvariant and cancer risk		176730	22627	2	2005	 These results support a role of the insulin and/or insulin-like growth factor pathways in the etiology of prostate cancer.	Case:199 incident prostate cancer cases;Control:267 age-matched controls										
128762		glucose tolerance	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Waterworth, D. M.  et al. 2005	15949705				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Europe	CDC GDPinfo	3630	Hs.89832			Biochimica et biophysica acta. 2005 Jun;1740(3):375-81	Interaction between insulin (VNTR) and hepatic lipase (LIPC-514C>T) variants on the response to an oral glucose tolerance test in the EARSII group of young healthy men.		176730	22621	2	2005												
128763		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Abe, T.  et al. 2001	11606170				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	CDC GDPinfo	3630	Hs.89832			Diabetic medicine. 2001 Sep;18(9):726-31	CTLA4 gene polymorphism contributes to the mode of onset of diabetes with antiglutamic acid decarboxylase antibody in Japanese patients:genetic analysis of diabetic patients with antiglutamic acid decarboxylase antibody.		176730	22622	2	2001	 Our data showed that GAD-Ab+ Japanese patients presenting with Type 2 diabetes have shifted A allele while patients with abrupt onset have shifted G allele of CTLA4 gene polymorphism. Our results suggest that immunological function and polymorphism of the CTLA4 gene may contribute to the pathogenesis and progression of Type 1 diabetes.	Cohort 51 Patients with Type 2 diabetes who were GAD-Ab+ Japan 										
128764		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Graham, J.  et al. 2002	11978629				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Diabetes. 2002 May;51(5):1346-55	Genetic effects on age-dependent onset and islet cell autoantibody markers in type 1 diabetes.		176730	22623	2	2002	We conclude that  age and genetic factors such as HLA-DQ and INS VNTR need to be combined with islet autoantibody markers when evaluating the risk for type 1 diabetes development.	Control:702 control subjects aged 0-34 years;Case:971 incident patients with type 1 diabetes										
128758	N	body mass; polycystic ovary syndrome; testosterone	METABOLIC	MET	Polycystic Ovary Syndrome	11	11p15.5	INS	2106922	2139015		Powell, B. L.  et al. 2005	15705917				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Finland|Great Britain	CDC GDPinfo	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 2005 May;90(5):2988-93	Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits.		176730	17811	2	2005	 Despite the strong biological candidacy and supportive data from previous studies, we conclude that variation at the INS-VNTR has no major role in the development of PCOS.	Control:1,062 British/Irish control subjects:Cohort:1,599 women from a Northern Finland population-based birth cohort characterized for PCO symptomatology and testosterone levels:finland;Case:185 British/Irish polycystic ovary syndrome cases:UK										
128759	Y	glucose	METABOLIC	MET	Insulin Resistance|Obesity	11	11p15.5	INS	2106922	2139015		Le Fur, S.  et al. 2005	15956217				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Physiological genomics. 2005 Aug;22(3):398-401	Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese.		176730	17812	2	2005												
128760		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Sandhu, M. S.  et al. 2005	16123374				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Diabetes. 2005 Sep;54(9):2812-5	INS VNTR class genotype and indexes of body size and obesity: population-based studies of 7,999middle-aged men and women.		176730	17814	2	2005												
128755	Y	obesity	METABOLIC	MET	Obesity	11	11p15.5	INS	2106922	2139015		Dos Santos, C.  et al. 2003	14657411				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Physiological genomics. 2004 Feb;16(3):309-13	INS VNTR is a QTL for the insulin response to oral glucose in obese children.		176730	17807	2	2003	The INS VNTR can therefore be considered an quantitative trait locus (QTL) influencing glucose-stimulated insulin physiology in obese juveniles.	Cohort 387 obese children aged 12+/-0.1 years with a mean BMI of 30.6 kg/m(2) (161% of the normal mean) 										
128756		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Mikulecky, M.  et al. 2004	15237706				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Slovakia	CDC GDPinfo	3630	Hs.89832			Journal of pediatric endocrinology & metabolism. 2004 May;17(5):727-30	Insulin gene profile cycles with season of birth of future diabetic children and their relatives.		176730	17808	2	2004	The highest frequency of Coxsackie infections in the Slovakian child population, and of diabetic births and manifestations, found earlier together with maximal risks from HLA II and IA-2A antibodies in late summer and early autumn, is now confirmed also for the insulin gene pattern in diabetic children and even also for their healthy close relatives.	Cohort 98 Slovak children with type 1 diabetes and 60 healthy parents and siblings 	birth seasonality									
128757	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Cinek, O.  et al. 2004	15305767				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Czech	Czech Republic	CDC GDPinfo	3630	Hs.89832			Cas Lek Cesk. 2004 ;143(5):318-22	[Association of insulin gene variants with type 1 diabetes mellitus in Czech population]		176730	17809	2	2004	 We conclude that the insulin gene genotyping confers important information on T1DM risk in our population, and should be used in determining the disease risk along with the HLA-DQ typing.	Control:292 healthy nondiabetic controls of similar age;Case:322 Czech type 1 diabetic subjects										
128751		body mass; cholesterol; triglycerides; insulin; glucose; blood pressure, arterial	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Metabolic Syndrome X|Hypercholesterolemia|Hypertriglyceridemia	11	11p15.5	INS	2106922	2139015		Sanchez-Corona, J.  et al. 2004	14693412				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Mexican	Mexico	CDC GDPinfo	3630	Hs.89832			Diabetes research and clinical practice. 2004 Jan;63(1):47-55	Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings.		176730	11962	2	2004	These findings suggest that the insulin gene may be an important determinant of metabolic syndrome, and particularly of dyslipidemia, in this population.	Cohort 163 individuals from Yucatan, Mexico Yucatan, Mexico 										
128752	N	diabetes, type 2; hypertension; insulin; obesity	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity	11	11p15.5	INS	2106922	2139015		Flores-Martinez, S. E.  et al. 2004	15581831				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Mexican	Mexico	CDC GDPinfo	3630	Hs.89832			Ann Genet. 2004 Oct-Dec;47(4):339-48	DNA polymorphism analysis of candidate genes for type 2 diabetes mellitus in a Mexican ethnic group.		176730	11966	2	2004	From statistical analysis carried out here, individually, the Pst I, Nsi I and Gly972Arg polymorphisms were not associated with the type 2 diabetes, obese or hypertensive phenotypes in this population. Nevertheless, there was an association between the Nsi I and Pst I polymorphisms and increased serum insulin levels.	Cohort 73 individuals from Santiago Jamiltepec, a population with a high prevalence of type 2 diabetes Mexico 										
128753		cholesterol, LDL; cholesterol, total; insulin sensitivity; hyperinsulinemia	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Puberty, Precocious|Birth Weight	11	11p15.5	INS	2106922	2139015		Ibanez, L.  et al. 2001	11739440				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 2001 Dec;86(12):5788-93	Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence.		176730	17803	2	2001	In summary, in girls who presented with precocious pubarche, hyperinsulinemia and dyslipidemia were related to both low birth weight and INS VNTR class I alleles. A similar interaction between genotype and intrauterine growth restraint may underlie other reported links between low birth weight and adulthood disease risks.	Control:140 age- and body mass index-matched control girls;Case:141 Caucasian girls, who presented with precocious:pubarche										
128748	N	diabetes, type 1; Addison's disease; celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Addison Disease	11	11p15.5	INS	2106922	2139015		Perez De Nanclares, G.  et al. 2003	14679083				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Annals of the New York Academy of Sciences. 2003 Nov;1005:319-23	5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac orAddison's disease.		176730	11939	2	2003	In conclusion, INS-VNTR does not seem to be involved in the susceptibility to autoimmune diseases other than T1DM and can be considered a diabetes-specific locus.	Case:102/59/57 autoantibody-positive T1DM patients (n=102), patients with celiac disease (n=59), and 57 patients with Addison's disease (n=57);Control:111 unrelated healthy individuals from the general:population										
128749	Y	diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Karim, M. A.  et al. 2004	15589123			promoter	Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	African American		CDC GDPinfo	3630	Hs.89832			Molecular genetics and metabolism. 2004 Dec;83(4):344-6	Association of an insulin gene promoter insertion polymorphism with type 2 diabetes and diabetic nephropathy in African Americans.		176730	11940	2	2004	By meta-analysis, the insertion was significantly associated with type 2 diabetes (OR=2.56; p=0.048), thus supporting a minor role in type 2 diabetes susceptibility.	Control:135 matched controls from Arkansas;Control:198 matched North Carolina controls;Case:200 African American diabetic individuals North Carolina;Case:260 African American diabetic cases:Arkansas										
128750		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11p15.5	INS	2106922	2139015		Claeys, G. B.  et al. 2005	15880482				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	African American		CDC GDPinfo	3630	Hs.89832			The Prostate. 2005 Sep;65(1):83-7	INSPstI polymorphism and prostate cancer in African-American men.		176730	11941	2	2005	 Our study, taken together with the report of Ho et al., suggests that the INS Pst1 CC genotype is associated with prostate cancer risk in African-American men. Germline variation in the INS gene should be more fully explored in multiethnic studies to elucidate the molecular variant(s) associated with prostate carcinogenesis.	Cohort 466 African-American men with and without prostate cancer from the Flint Men's Health Study 										
128744		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Aparicio JM 2004	1982251				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Disease markers. 1990 Sep-Oct;8(5):283-94	Non-HLA genetic factors and insulin dependent diabetes mellitus in the Japanese: TCRA, TCRB and TCRG, INS, THY1, CD3D and ETS1		176730	4003	1	2004												
128747	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	11	11p15.5	INS	2106922	2139015		Vankova, M.  et al. 2002	12079889				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Annals of the New York Academy of Sciences. 2002 Jun;967:558-65	Association of insulin gene VNTR polymorphism with polycystic ovary syndrome.		176730	11938	2	2002	No significant differences in INS VNTR genotype, phenotype, or allele frequencies were found between PCOS and controls. In spite of several differences in anthropometric and biochemical parameters (abdominal fat localization, increased beta-cell function, and lower insulin sensitivity in PCOS women), no effect of INS VNTR polymorphism was found on insulin secretion, insulin action, or any other screened parameter.	Control:controls;Case polycystic ovary syndrome patients										
128739		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Aparicio JM 2004	1982251				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Disease markers. 1990 Sep-Oct;8(5):283-94	Non-HLA genetic factors and insulin dependent diabetes mellitus in the Japanese: TCRA, TCRB and TCRG, INS, THY1, CD3D and ETS1		176730	3998	1	2004												
128741		diabetes, type 2	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Awata T 85	3005097				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese		Y Wang	3630	Hs.89832			Diabetologia. 1985 Dec;28(12):911-3	Restriction fragment length polymorphism of the insulin gene region in Japanese diabetic and non-diabetic subjects.		176730	4000	1	1985												
128743		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Obesity	11	11p15.5	INS	2106922	2139015		Aoyama N 86	3017653				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Diabetes care. 1986 Jul-Aug;9(4):365-9	Low frequency of 5'-flanking insertion of human insulin gene in Japanese non-insulin-dependent diabetic subjects.		176730	4002	1	1986												
128735		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Conn V 87	2880401				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			South African medical journal. 1987 Feb;71(3):174-8	Non-insulin-dependent diabetes mellitus and the 5' hypervariable region of the insulin gene in two South African Indian families.		176730	3994	1	1987												
128736	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Cox NJ 1989	2565838				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetes. 1989 May;38(5):653-8	Linkage studies on NIDDM and the insulin and insulin-receptor genes.		176730	3995	1	1989	We conclude that  the INS and INSR loci can be ruled out as major susceptibility loci for NIDDM in most Black families segregating this disorder, but we recognize that defects at either of these loci may cause or contribute to NIDDM in some patients. In addition, it is possible that variation at the INS and/or INSR loci may contribute to NIDDM susceptibility by modifying susceptibility due primarily to another major gene(s) or as part of an overall polygenic component to NIDDM.											
128737		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	11	11p15.5	INS	2106922	2139015		Cox NJ 2004	2567260				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Genetic epidemiology. 1989 ;6(1):65-9	The insulin gene and susceptibility to IDDM		176730	3996	1	2004												
128738	Y	insulin response to oral glucose	METABOLIC	MET	Obesity	11	11p15.5	INS	2106922	2139015		Dos Santos C 2004	14657411				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	caucasian		KGB	3630	Hs.89832	obese children		Physiological genomics. 2004 Feb;16(3):309-13	INS VNTR is a QTL for the insulin response to oral glucose in obese children.		176730	3997	1	2004	The INS VNTR can therefore be considered an quantitative trait locus (QTL) influencing glucose-stimulated insulin physiology in obese juveniles.	Cohort 387 obese children aged 12+/-0.1 years with a mean BMI of 30.6 kg/m(2) (161% of the normal mean)										
128730		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Galton DJ 2004	2952410				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetic medicine. 1985 May;2(3):159-62	DNA polymorphisms and the insulin gene: disease associations		176730	3989	1	2004												
128733		diabetes, type 2	METABOLIC	MET	Pregnancy in Diabetics|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Hittman GA 84	6321085				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Caucasian		Y Wang	3630	Hs.89832			Clin Sci (Lond).. 1984 Apr;66(4):383-8	Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetes.		176730	3992	1	1984												
128734		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Chuang LM 1990	1982127				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Chinese	Taiwan	Y Wang	3630	Hs.89832			Journal of the Formosan Medical Association. 1990 Nov;89(11):965-8	Polymorphic locus in the 5'-flanking region of human insulin gene and non-insulin-dependent diabetes mellitus.		176730	3993	1	1990												
128726		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Kanazawa Y 1988	2907292				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Biomedica biochimica acta. 1988 ;47(5-Apr):317-21	Polymorphism of insulin gene area in Japanese: relationship with insulin-dependent and non-insulin dependent diabetes.		176730	3985	1	1988												
128727		diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Kanazawa Y 2004	2907292				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Biomedica biochimica acta. 1988 ;47(5-Apr):317-21	Polymorphism of insulin gene area in Japanese: relationship with insulin-dependent and non-insulin dependent diabetes.		176730	3986	1	2004												
128728		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Kawaguchi Y 2004	9144439				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	Y Wang	3630	Hs.89832			Biochemical and biophysical research communications. 1997 Apr;233(1):283-7	Insulin gene region contributes to genetic susceptibility to, but may not to low incidence of, insulin-dependent diabetes mellitus in Japanese		176730	3987	1	2004												
128729		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Kim SW 87	2908729				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Korean	Korea	Y Wang	3630	Hs.89832			The Korean journal of internal medicine. 1987 Jul;2(2):140-6	Possible correlation between non-insulin dependent diabetes mellitus (NIDDM) and restriction fragment length polymorphism (RFLP) of the 5'-flanking region of insulin gene in Korean diabetic population.		176730	3988	1	1987												
128722		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Knowler WC 84	6392341				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Pima Indians	Arizona	Y Wang	3630	Hs.89832			The Journal of clinical investigation. 1984 Dec;74(6):2129-35	Polymorphism in the 5' flanking region of the human insulin gene. Relationships with noninsulin-dependent diabetes mellitus, glucose and insulin concentrations, and diabetes treatment in the Pima Indians.		176730	3981	1	1984												
128723		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	11	11p15.5	INS	2106922	2139015		Kusari J 1991	1671379				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetes. 1991 Feb;40(2):249-54	Insulin-receptor cDNA sequence in NIDDM patient homozygous for insulin-receptor gene RFLP.		176730	3982	1	1991	We conclude that  the insulin resistance seen in this NIDDM subject is not due to a structural alteration in the insulin receptor itself.(ABSTRACT TRUNCATED AT 250 WORDS)											
128724		diabetes, type 1	IMMUNE	IMM	Arteriosclerosis|Hyperlipoproteinemia Type IV|Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Mandrup-Poulsen T 2004	2878117				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Journal of inherited metabolic disease. 1986 ;9 Suppl 1:98-110	Diabetes mellitus, atherosclerosis, and the 5' flanking polymorphism of the human insulin gene		176730	3983	1	2004												
128725		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		McGinnis RE 2004	7589827				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Caucasian		Y Wang	3630	Hs.89832			Diabetes. 1995 Nov;44(11):1296-302	Insulin gene 5' flanking polymorphism. Length of class 1 alleles in number of repeat units		176730	3984	1	2004												
128717		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Paquette J 2004	9603916				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			The Journal of biological chemistry. 1998 Jun;273(23):14158-64	The INS 5' variable number of tandem repeats is associated with IGF2 expression in humans		176730	3976	1	2004												
128718		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease|Birth Weight	11	11p15.5	INS	2106922	2139015		Mitchell SM 2004	14715866				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Great Britain	KGB	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):310-7	Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations.		176730	3977	1	2004												
128719		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Susceptibility	11	11p15.5	INS	2106922	2139015		Morgan R 1990	1978826				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Welsh	Wales	Y Wang	3630	Hs.89832			Diabetes. 1990 Dec;39(12):1479-84	Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population.		176730	3978	1	1990												
128720		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Neumer C 2004	2907291				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	GDR	Germany, East	Y Wang	3630	Hs.89832			Biomedica biochimica acta. 1988 ;47(5-Apr):311-5	Restriction-fragment-length-polymorphisms close to the human insulin gene on chromosome 11 and their possible relation to diabetes mellitus in a GDR population		176730	3979	1	2004												
128712		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	11	11p15.5	INS	2106922	2139015		Undlien DE 2004	7789624				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Finnish Caucasoid	Finland	Y Wang	3630	Hs.89832			Diabetes. 1995 Jun;44(6):620-5	Insulin gene region-encoded susceptibility to IDDM maps upstream of the insulin gene.		176730	3971	1	2004												
128713		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Olansky L 1992	1350258				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		United States	Y Wang	3630	Hs.89832			Diabetes. 1992 Jun;41(6):742-9	Variability of the insulin gene in American blacks with NIDDM. Analysis by single-strand conformational polymorphisms.		176730	3972	1	1992												
128716		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Paquette J 2004	9603916				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			The Journal of biological chemistry. 1998 Jun;273(23):14158-64	The INS 5' variable number of tandem repeats is associated with IGF2 expression in humans		176730	3975	1	2004												
128707		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		van der Auwera BJ 2004	8495808				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetes. 1993 Jun;42(6):851-4	5' insulin gene polymorphism confers risk to IDDM independently of HLA class II susceptibility		176730	3966	1	2004												
128709		diabetes, type 1	IMMUNE	IMM	Prediabetic State|Autoimmune Diseases|Diabetes Mellitus, Type 1|Disease Progression|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Pugliese A 2004	7840860				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	United States	United States	Y Wang	3630	Hs.89832			Journal of autoimmunity. 1994 Oct;7(5):687-94	The paternally inherited insulin gene B allele (1,428 FokI site) confers protection from insulin-dependent diabetes in families		176730	3968	1	2004												
128710		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Raben N 1991	2015966				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Pima Indians and Nauruans	Arizona|Micronesia	Y Wang	3630	Hs.89832			Diabetes. 1991 Jan;40(1):118-22	Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes.		176730	3969	1	1991												
128711		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Raffel LJ 2004	1353534				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Journal of medical genetics. 1992 Jul;29(7):447-50	The aggregation of the 5' insulin gene polymorphism in insulin dependent (type I) diabetes mellitus families.		176730	3970	1	2004												
128703	Y	diabetes, type 1	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Addison Disease	11	11p15.5	INS	2106922	2139015		Perez De Nanclares G et al. 2003	14679083				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Annals of the New York Academy of Sciences. 2003 Nov;1005:319-23	5'-Insulin gene VNTR polymorphism is specific for type 1 diabetes: no association with celiac or Addison's disease		176730	3961	1	2003	In conclusion, INS-VNTR does not seem to be involved in the susceptibility to autoimmune diseases other than T1DM and can be considered a diabetes-specific locus.	Case:102/59/57 autoantibody-positive T1DM patients (n=102), patients with celiac disease (n=59), and 57 patients with Addison's disease (n=57);Control:111 unrelated healthy individuals from the general:population										
128704	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Awata T et al. 1997	9313762			other	Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	KGB	3630	Hs.89832			Diabetes. 1997 Oct;46(10):1637-42	Evidence for association between the class I subset of the insulin gene minisatellite (IDDM2 locus) and IDDM in the Japanese population.		176730	3962	1	1997												
128705		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Vafiadis P 2004	9709972				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 1998 Aug;83(8):2933-9	Divergence between genetic determinants of IGF2 transcription levels in leukocytes and of IDDM2-encoded susceptibility to type 1 diabetes		176730	3964	1	2004												
128706		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		van der Auwera B 2004	7673396				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Caucasian		Y Wang	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 1995 Sep;80(9):2567-73	Genetic susceptibility for insulin-dependent diabetes mellitus in Caucasians revisited: the importance of diabetes registries in disclosing interactions between HLA-DQ- and insulin gene-linked risk. Belgian Diabetes Registry		176730	3965	1	2004												
128699	N	diabetes	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Obesity	11	11p15.5	INS	2106922	2139015	n	Fathman CG et al. 1985	3886460				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		United States	KGB	3630	Hs.89832			Diabetes. 1985 May;34(5):433-9	Lack of association of the polymorphic locus in the 5'-flanking region of the human insulin gene and diabetes in American blacks.		176730	3957	1	1985												
128700		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Undlien DE et al. 1994	7988775				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	caucasian	Tanzania|Japan|Norway	KGB	3630	Hs.89832			Diabetologia. 1994 Aug;37(8):745-9	IDDM susceptibility associated with polymorphisms in the insulin gene region. A study of blacks Caucasians and orientals.		176730	3958	1	1994												
128701	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Huxtable SJ et al. 2000	10615960				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Diabetes. 2000 Jan;49(1):126-30	Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles.		176730	3959	1	2000												
128702	Y	diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Lucassen AM et al. 1993	8358440				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Nature genetics. 1993 Jul;4(3):305-10	Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR		176730	3960	1	1993												
128694	N	Type 2 diabetes Type 1 diabetes	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015	n	Zalman MA et al. 1986	3535329				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	KGB	3630	Hs.89832			Acta endocrinologica. 1986 Oct;113(2):268-71	The polymorphism linked to the human insulin gene: its lack of association with either IDDM or NIDDM in Japanese.		176730	3952	1	1986	We conclude that  length polymorphism of the human insulin gene cannot be a useful marker for diabetes in Japanese.											
128695	Y	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	11	11p15.5	INS	2106922	2139015		Vankova M et al. 2002	12079889				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Annals of the New York Academy of Sciences. 2002 Jun;967:558-65	Association of insulin gene VNTR polymorphism with polycystic ovary syndrome.		176730	3953	1	2002	No significant differences in INS VNTR genotype, phenotype, or allele frequencies were found between PCOS and controls. In spite of several differences in anthropometric and biochemical parameters (abdominal fat localization, increased beta-cell function, and lower insulin sensitivity in PCOS women), no effect of INS VNTR polymorphism was found on insulin secretion, insulin action, or any other screened parameter.	Control:controls;Case polycystic ovary syndrome patients										
128696	Y	impaired proinsulin conversion	OTHER	OTH	Metabolic Diseases	11	11p15.5	INS	2106922	2139015		Mermer B et al. 1987	3470784				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Proceedings of the National Academy of Sciences of the United States of America. 1987 Apr;84(8):2194-7	A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.		176730	3954	1	1987												
128697	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015	n	Urrutia I et al. 1998	9754833				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Diabetologia. 1998 Sep;41(9):1121-3	Anomalous behaviour of the 5' insulin gene polymorphism allele 814: lack of association with Type I diabetes in Basques. GEPV-N Group. Basque-Navarre Endocrinology and Paediatrics.		176730	3955	1	1998												
128690	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Diabetes Mellitus	11	11p15.5	INS	2106922	2139015		Ho GY et al. 2003	12610512				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			British journal of cancer. 2003 Jan;88(2):263-9	Polymorphism of the insulin gene is associated with increased prostate cancer risk.		176730	3948	1	2003	The polymorphism of INS may play a role in the aetiology of prostate cancer. Given the high prevalence of the CC genotype and its association with late age of onset of low-grade tumours, this polymorphism may contribute to the unique characteristics of prostate cancer, namely a high prevalence of indolent cancers and the dramatic increase in incidence with age.	Case:126 prostate cancer cases;Control:126 paired controls matched on age, race and countries of origin										
128691	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus	11	11p15.5	INS	2106922	2139015		Poncet D et al. 1982	6128593				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Lancet. 1982 Dec;2(8311):1291-3	Possible association between DNA sequences flanking the insulin gene and atherosclerosis.		176730	3949	1	1982												
128692	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Obesity, Morbid	11	11p15.5	INS	2106922	2139015		Le Stunff C et al. 2000	11101842				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Nature genetics. 2000 Dec;26(4):444-6	The insulin gene VNTR is associated with fasting insulin levels and development of juvenile obesity.		176730	3950	1	2000												
128693	Y	atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Fathman CG et al. 1985	3914802				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Acta endocrinologica  Supplementum. 1985 ;272:35-41	Association between DNA-sequences flanking the insulin-gene and atherosclerosis.		176730	3951	1	1985												
128686	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015	n	Matsumoto C et al. 1994	8163057				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	KGB	3630	Hs.89832			Diabetologia. 1994 Feb;37(2):210-3	Lack of association of the insulin gene region with type 1 (insulin-dependent) diabetes mellitus in Japanese subjects.		176730	3944	1	1994												
128687	Y	reduced insulin secretion	OTHER	OTH		11	11p15.5	INS	2106922	2139015		Cocozza S et al. 1988	3147185			promoter	Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			European journal of clinical investigation. 1988 Dec;18(6):582-6	Polymorphism at the 5' end flanking region of the insulin gene is associated with reduced insulin secretion in healthy individuals.		176730	3945	1	1988	We conclude that  the polymorphism at the 5' end of the insulin gene is associated with variations in insulin secretion in healthy humans.											
128688		type I diabetes	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	11	11p15.5	INS	2106922	2139015		Julier C et al. 1994	7977386				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		France	KGB	3630	Hs.89832			American journal of human genetics. 1994 Dec;55(6):1247-54	Multiple DNA variant association analysis: application to the insulin gene region in type I diabetes.		176730	3946	1	1994												
128689		diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Lucassen AM et al. 1993	8358440				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Nature genetics. 1993 Jul;4(3):305-10	Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR.		176730	3947	1	1993												
128681	Y	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome	11	11p15.5	INS	2106922	2139015		McKeigue P et al. 1997	9193402				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Lancet. 1997 Jun;349(9067):1771-2	Association of insulin gene VNTR polymorphism with polycystic ovary syndrome.		176730	3939	1	1997												
128682	Y	obesity	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Obesity	11	11p15.5	INS	2106922	2139015		Weaver JU et al. 1992	1354160				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			European journal of clinical investigation. 1992 Apr;22(4):265-70	Central obesity and hyperinsulinaemia in women are associated with polymorphism in the 5' flanking region of the human insulin gene.		176730	3940	1	1992												
128684	N	Graves disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015	n	Allahabadia A et al. 1999	10211611				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Thyroid. 1999 Mar;9(3):317-8	Sharing of susceptibility loci between autoimmune diseases: lack of association of the insulin gene region with Graves' disease.		176730	3942	1	1999												
128685	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015	n	Masuda K et al. 1994	7951555				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese	Japan	KGB	3630	Hs.89832			Endocrine journal. 1994 Feb;41(1):71-4	Hind III site causing Proinsulin Kyoto and Pst I site polymorphism of the insulin gene in Japanese: its lack of association with either IDDM or NIDDM.		176730	3943	1	1994	We conclude that  the Proinsulin Kyoto gene is not a common cause of DM and the occurrence of the alpha type insulin gene in Japanese diabetes is more frequent than in other races, so this Pst I polymorphism is not a marker for diabetes mellitus in Japanese.											
128677		insulin	METABOLIC	MET	Insulin Resistance|Obesity, Morbid	2	2q32	INPP1	190916679	190944552		Baratta, R.  et al. 2003	14574455				Inositol polyphosphate-1-phosphatase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002194.2			CDC GDPinfo	3628	Hs.32309			Journal of molecular medicine (Berlin, Germany). 2003 Nov;81(11):718-23	Evidence for genetic epistasis in human insulin resistance: the combined effect of PC-1 (K121Q) andPPARgamma2 (P12A) polymorphisms.		147263	19046	2	2003	Overall, a significant interaction between the two genes was observed on body mass index, insulin levels (both fasting and after OGTT) and both insulin sensitivity (i.e., insulin sensitivity index and M value) and insulin secretion (i.e., HOMA-B+ACU-) indexes.	Cohort 338 subjects representative of an overall cohort of 338 healthy unrelated subjects, all nondiabetic and not morbidly obese Sicily 		PC-1	X121Q genotype	PPARgamma2	P12P			Y		insulin levels
128678		Longevity	AGING	AGE		11	11p15.5	INS	2106922	2139015		De Luca M 2001	11672987				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			TJB	3630	Hs.89832			Experimental gerontology. 2001 Nov;36(10):1663-71	Sex-specific longevity associations defined by Tyrosine Hydroxylase-Insulin-Insulin Growth Factor 2 haplotypes on the 11p15.5 chromosomal region.		176730	3936	1	2001												
128679	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Jaiswal AK et al. 1984	6363172				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Diabetes. 1984 Feb;33(2):176-83	A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus.		176730	3937	1	1984												
128680	Y	polycystic ovary syndrome.	METABOLIC	MET	Polycystic Ovary Syndrome	11	11p15.5	INS	2106922	2139015		Waterworth DM et al. 1997	9100625				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Lancet. 1997 Apr;349(9057):986-90	Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome.		176730	3938	1	1997												
128673		premature ovarian failure	REPRODUCTION	REP	Fragile X Syndrome|Ovarian Failure, Premature	2	2q33-q36	INHA	220145197	220148671			16161415				Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2			CDC GDPinfo	3623	Hs.407506			Tsitol Genet. 2005 Mar-Apr;39(2):59-63	[The use of DNA analysis for diagnostics of hereditary premature ovarian failure]		147380	22620	2	2005												
128676		insulin	METABOLIC	MET	Hyperinsulinism|Insulin Resistance|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Abate, N.  et al. 2003	14671192	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Indian	India	CDC GDPinfo	5167	Hs.527295			The Journal of clinical endocrinology and metabolism. 2003 Dec;88(12):5927-34	Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.		173335	11935	2	2003	We conclude that  the PC-1 K121Q polymorphism associates with primary insulin resistance in migrant Asian Indians. A relatively high frequency of this polymorphism thus may be one factor contributing to insulin resistance susceptibility in Asian Indians. This finding indicates the need for expanded studies on the association between PC-1 K121Q and insulin resistance in a representative sample of the Asian Indian population.	Cohort local Asian Indians and Caucasians 										
128669	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Amenorrhea	2	2q33-q36	INHA	220145197	220148671		Marozzi, A.  et al. 2002	12093833				Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2	Italian		CDC GDPinfo	3623	Hs.407506			Human reproduction (Oxford, England). 2002 Jul;17(7):1741-5	Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure.		147380	17796	2	2002	 These data strengthen the concept of the INHalpha gene as a candidate for ovarian failure.	Cohort 157 patients affected by premature ovarian failure 										
128670		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Infertility, Female	2	2q33-q36	INHA	220145197	220148671		Jeong, H. J.  et al. 2004	15227735				Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2	Korean	Korea	CDC GDPinfo	3623	Hs.407506			Yonsei medical journal. 2004 Jun;45(3):479-82	G769A variation of inhibin alpha-gene in korean women with premature ovarian failure.		147380	17797	2	2004	We found no variation between the normal subjects and the POF patients. G769A variation of INHalpha is rare in Korea women with POF.	Control:100 normal fertile women;Case:84 women with premature ovarian failure										
128671		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	2	2q33-q36	INHA	220145197	220148671		Ciarmela, P.  et al. 2005	15816368				Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2	Italian		CDC GDPinfo	3623	Hs.407506			Journal of endocrinological investigation. 2005 Jan;28(1):30-3	Mutational analysis of the inhibin alpha gene in preeclamptic women.		147380	17798	2	2005	 The prevalence of INHalpha gene variants is not increased in PE. Due to its frequency, the 769G-->A transition may be considered a polymorphism present in the general Italian population.	Control:103/42 general population controls (103 women and 42 men);Case:50 patients affected by preeclampsia:Italy										
128672		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	2	2q33-q36	INHA	220145197	220148671			16396934				Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2			CDC GDPinfo	3623	Hs.407506			Human reproduction (Oxford, England). 2006	Controversial role of inhibin {alpha}-subunit gene in the aetiology of premature ovarian failure		147380	17800	2	2006	 Our results indicate that -16C>T and 769G>A variants in INHalpha gene may not be associated to POF disease.											
128665	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	18	18p11.2	IMPA2	11971056	12020876		Yoshikawa, T.  et al. 2001	11317223				Inositol(myo)-1(or 4)-monophosphatase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014214.1	Japanese	Japan	CDC GDPinfo	3613	Hs.367992			Molecular psychiatry. 2001 Mar;6(2):202-10	Evidence for association of the myo-inositol monophosphatase 2 (IMPA2) gene with schizophrenia in Japanese samples		605922	17793	2	2001	Our findings suggest that IMPA2 or a gene nearby may contribute to the overall genetic risk for schizophrenia among Japanese.	Control:205 patients with affective disorder;Case:302:shizophrenics;Control:308 subjects recruited from hospital staff who were free of psychoses and company employees who did not manifest psychiatric problems										
128667		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa	7	7q31.3-q32	IMPDH1	127819566	127837542		Wada, Y.  et al. 2005	16038673				IMP (inosine monophosphate) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000883.2	Japanese	Japan	CDC GDPinfo	3614	Hs.534808			American journal of ophthalmology. 2005 Jul;140(1):163-5	Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.		146690	17795	2	2005	 The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.											
128668	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	2	2q33-q36	INHA	220145197	220148671			16390856			promoter	Inhibin, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002191.2			CDC GDPinfo	3623	Hs.407506			Molecular human reproduction. 2005 Nov;11(11):779-784	INHA promoter polymorphisms are associated with premature ovarian failure		147380	11934	2	2006	We conclude that  the inheritance of specific INHA promoter haplotypes predispose to the development of premature ovarian failure.											
128661		Asthma	IMMUNE	IMM	Asthma	X	Xq28 and Yq12	IL9R	154880439	154893676		Kauppi P 2000	11039580				Interleukin 9 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002186.2			KCB	3581	Hs.406228			European journal of human genetics. 2000 Oct;8(10):788-92			300007	3784	1	2000												
128662		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Neurodegenerative Diseases|Genetic Predisposition to Disease	17	17q21.31	IMP5	41278052	41280107		Pastor, P.  et al. 2004	15293277				Intramembrane protease 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175882.1		Spain	CDC GDPinfo	162540	Hs.144491			Annals of neurology. 2004 Aug;56(2):249-58	Novel haplotypes in 17q21 are associated with progressive palsy		608284	22619	2	2004	A specific subhaplotype (H1E'(A)) was present in patients but was not observed in the controls. Furthermore, the haplotype, was rarely present in the disease group suggesting plays a protective role. The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the pathogenic allele exists in a subgroup of PSP patients.	Case progressive supranuclear palsy cases from 2 case-control samples;Control controls from 2 case-control samples										
128663	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	18	18p11.2	IMPA2	11971056	12020876		Yoshikawa T et al. 2001	11317223				Inositol(myo)-1(or 4)-monophosphatase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014214.1	Japanese	Japan	KGB	3613	Hs.367992			Molecular psychiatry. 2001 Mar;6(2):202-10	Evidence for association of the myo-inositol monophosphatase 2 (IMPA2) gene with schizophrenia in Japanese samples.		605922	3934	1	2001	Our findings suggest that IMPA2 or a gene nearby may contribute to the overall genetic risk for schizophrenia among Japanese.	Control:205 patients with affective disorder;Case:302:shizophrenics;Control:308 subjects recruited from hospital staff who were free of psychoses and company employees who did not manifest psychiatric problems										
128657	N	respiratory syncytial virus	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	5	5q31.1	IL9	135255833	135259415		Hoebee, B.  et al. 2004	14722888				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			CDC GDPinfo	3578	Hs.960			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of Promoter Variants of Interleukin-10, Interleukin-9, and Tumor Necrosis Factor-alpha Genes on Respiratory Syncytial Virus Bronchiolitis		146931	22618	2	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus										
128658		celiac disease	IMMUNE	IMM	Celiac Disease	5	5q31.1	IL9	135255833	135259415		Ryan, A. W.  et al. 2005	15713213				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1		Ireland	CDC GDPinfo	3578	Hs.960			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		146931	27052	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
128660		Asthma	IMMUNE	IMM	Asthma	X	Xq28 and Yq12	IL9R	154880439	154893676		Kauppi P 2000	11039580				Interleukin 9 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002186.2	Finnish		KCB	3581	Hs.406228			European journal of human genetics. 2000 Oct;8(10):788-92			300007	3783	1	2000												
128654	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL9	135255833	135259415	n	Ober C 2000	11022011	int4(GT)n			Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1	Hutterites	South Dakota	KCB	3578	Hs.960			American journal of human genetics. 2000 Nov;67(5):1154-62			146931	3776	1	2000												
128655		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL9	135255833	135259415		Freidin MB et al. 2000	10822820				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			KGB	3578	Hs.960			Genetika. 2000 Apr;36(4):559-61	Analysis of the association between the T113M polymorphism of the human il-9 gene and bronchial asthma trans Otsenka assotsiatsii polimorfizma T113M gena IL9 s bronkhial'noi astmoi.		146931	3777	1	2000												
128656	N	syncytial virus bronchiolitis	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	5	5q31.1	IL9	135255833	135259415		Hoebee B 2004	14722888			5' promoter	Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			KGB	3578	Hs.960			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of promoter variants of interleukin-10, interleukin-9, and tumor necrosis factor-alpha genes on respiratory syncytial virus bronchiolitis.		146931	3778	1	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus										
128649		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Saito, T.  et al. 2004	15063762				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2		Japan	CDC GDPinfo	3579	Hs.846			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		146928	28559	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
128650		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL9	135255833	135259415		Rosenwasser L 1999	10224407	A-345G			Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			KCB	3578	Hs.960			International archives of allergy and immunology. 1999 Feb-Apr;118(4-Feb):268-70			146931	3772	1	1999												
128651		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL9	135255833	135259415		Rosenwasser L 1999	10224407	A-345G			Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			KCB	3578	Hs.960			International archives of allergy and immunology. 1999 Feb-Apr;118(4-Feb):268-70			146931	3773	1	1999												
128652	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL9	135255833	135259415	n	Hakonarson H 2001	11739132	A-363G			Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1	Icelandic	Iceland	KCB	3578	Hs.960			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			146931	3774	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128646		asthma; chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Stemmler, S.  et al. 2005	15772681				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2			CDC GDPinfo	3579	Hs.846			Genes and immunity. 2005 May;6(3):225-30	Association of interleukin-8 receptor alpha polymorphisms with chronic obstructive pulmonary disease and asthma.		146928	22617	2	2005	Thus, these polymorphisms may play a role in the pathogenesis of COPD and asthma.	Case:182/68/130 chronic obstructive pulmonary disease patients (n=182), and adult patients (n=68) and children (n=130) with asthma;Control:454 healthy controls										
128647	Y	tuberculosis	INFECTION	INF	Tuberculosis|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Ma, X.  et al. 2003	12870115				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2		Texas	CDC GDPinfo	3579	Hs.846			The Journal of infectious diseases. 2003 Aug;188(3):349-55	Association between interleukin-8 gene alleles and human susceptibility to tuberculosis disease.		146928	25100	2	2003	These data suggest that IL-8 is important in the genetic control of human TB susceptibility.	Case white subjects with TB disease;Control:cont										
128648		esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease|Inflammation	2	2q35	IL8RB	218698242	218710220		Savage, S. A.  et al. 2004	15598788				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2		China	CDC GDPinfo	3579	Hs.846			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2251-7	Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma.		146928	25101	2	2004	We conclude that  variation in IL8 seems to increase the risk for GCC but not ESCC in this high-risk population. These variants could confer an altered IL8 expression pattern or interact with environmental factors to increase the risk for inflammation and GCC.	Cohort subjects from the Nutrition Intervention Trials ;Case incident gastric cardia adenocarcinoma (n = 90) and esophageal squamous cell carcinoma (n = 131) cases:Linxian, China										
128642	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	2	2q35	IL8RB	218698242	218710220	n	Kato H et al. 2000	11196695				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Japanese	Japan	Tsuchiya N	3579	Hs.846			Genes and immunity. 2000 Jun;1(5):330-7			146928	3781	1	2000		Case:146; Control:242										
128643	N	systemic lupus erythematosus	IMMUNE	IMM	Rheumatic Diseases	2	2q35	IL8RB	218698242	218710220	n	Kato H et al. 2000	11196695				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Japanese	Japan	Tsuchiya N	3579	Hs.846			Genes and immunity. 2000 Jun;1(5):330-7			146928	3782	1	2000		Case:80; Control:242										
128644		Behcet's Disease	IMMUNE	IMM		2	2q35	IL8RB	218698242	218710220		Gupta, M.  et al. 2004	14967163				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2			CDC GDPinfo	3579	Hs.846			Clinica chimica acta; international journal of clinical chemistry. 2004 Mar;341(2-Jan):93-100	Real-time PCR-based genotyping assay for CXCR2 polymorphisms		146928	11930	2	2004	 Due to its rapid and relatively inexpensive performance and accuracy, the presented allelic discrimination assay for CXCR2 polymorphisms has wide applicability, especially for high-throughput sample analysis in large population genotyping studies.	Cohort 20 human DNA samples 										
128645	N	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Duymaz-Tozkir, J.  et al. 2005	15630732				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2			CDC GDPinfo	3579	Hs.846			The Journal of rheumatology. 2005 Jan;32(1):93-7	Polymorphisms of the IL-8 and CXCR2 genes are not associated with Bechet's disease.		146928	22616	2	2005	 These results suggest that the IL-8 gene -353 A/G, +1530 T/C, and +3331 A/G and the CXCR2 gene +785 C/T and +1208 T/C polymorphisms have no role in the increased expression of IL-8 in BD.	Control:100 healthy controls;Case:100 patients with Behcet's disease										
128638	Y	tuberculosis	INFECTION	INF	Tuberculosis|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Ma, X.  et al. 2003	12870115				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2		Texas	CDC GDPinfo	3577	Hs.194778			The Journal of infectious diseases. 2003 Aug;188(3):349-55	Association between interleukin-8 gene alleles and human susceptibility to tuberculosis disease.		146929	22614	2	2003	These data suggest that IL-8 is important in the genetic control of human TB susceptibility.	Case white subjects with TB disease;Control:cont										
128640		Asthma	IMMUNE	IMM	Asthma	2	2q35	IL8RB	218698242	218710220		Unoki M 2000	10830912	C238T			Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Japanese	Japan	KCB	3579	Hs.846			Human genetics. 2000 Apr;106(4):440-6			146928	3779	1	2000												
128641	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	2	2q35	IL8RB	218698242	218710220	n	Kato H et al. 2000	11196695				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Japanese	Japan	Tsuchiya N	3579	Hs.846			Genes and immunity. 2000 Jun;1(5):330-7			146928	3780	1	2000		Case:146; Control:242										
128634		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	4	4q13-q21	IL8	74825138	74828297		Kim, M. S.  et al. 2004	15220553				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		146930	27948	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
128635	N	rheumatoid arthritis	IMMUNE	IMM	Rheumatic Diseases	2	2q35	IL8RA	218735812	218739961	n	Kato H et al. 2000	11196695				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Japanese	Japan	Tsuchiya N	3577	Hs.194778			Genes and immunity. 2000 Jun;1(5):330-7			146929	3770	1	2000		Case:146; Control:242										
128636	N	systemic lupus erythematosus	IMMUNE	IMM	Rheumatic Diseases	2	2q35	IL8RA	218735812	218739961	n	Kato H et al. 2000	11196695				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Japanese	Japan	Tsuchiya N	3577	Hs.194778			Genes and immunity. 2000 Jun;1(5):330-7			146929	3771	1	2000		Case:80; Control:242										
128631		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Combarros, O.  et al. 2005	15854776				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		146930	27520	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
128632		longevity	AGING	AGE		4	4q13-q21	IL8	74825138	74828297		Ross, O. A.  et al. 2003	12633940				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Irish		CDC GDPinfo	3576	Hs.624			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		146930	27521	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
128633		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Howell, W. M.  et al. 2003	14675394				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		146930	27775	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
128628		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	4	4q13-q21	IL8	74825138	74828297		Lehrnbecher, T.  et al. 2005	16107886				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		146930	26319	2	2005												
128629		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Howell, W. M.  et al. 2005	15917409				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		146930	26320	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
128630		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Smith, K. C.  et al. 2004	15265021				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		146930	26321	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
128625		inflammatory response, trauma induced	IMMUNE	IMM	Multiple Trauma|Genetic Predisposition to Disease|Inflammation|Systemic Inflammatory Response Syndrome	4	4q13-q21	IL8	74825138	74828297			16317381				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Shock (Augusta, Ga). 2005 Dec;24(6):518-22	GENETIC PREDISPOSITION FOR A COMPROMISED IMMUNE SYSTEM AFTER MULTIPLE TRAUMA		146930	25098	2	2005												
128626		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q13-q21	IL8	74825138	74828297		Ross, O. A.  et al. 2004	15120188				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Irish	Ireland	CDC GDPinfo	3576	Hs.624			Human immunology. 2004 Apr;65(4):340-6	Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish.		146930	25099	2	2004	This association further supports the theory that the proinflammatory response in the brains of patients with PD plays a role in the pathogenesis of the disease and warrants further investigation into the role of chemokines in the brain, and a more detailed analysis of the genetics involved in the immune response of the brain.	Case a cohort of patients with Parkinson's disease:Ireland;Control healthy elderly individuals										
128627	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	4	4q13-q21	IL8	74825138	74828297		Lu, W.  et al. 2004	15579481				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Chinese		CDC GDPinfo	3576	Hs.624			Carcinogenesis. 2005 Mar;26(3):631-6	Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population.		146930	26318	2	2004	These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population.	Case:250 incident cases with gastric cancer Northern China;Control:300:controls										
128622	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Kawahara, C.  et al. 2005	15708897				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Annals of the rheumatic diseases. 2005 Mar;64(3):474-6	Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.		146930	25095	2	2005	 The analysis implies that the chromosome 4q female hip OA susceptibility is not coded for by polymorphism within the functional candidates IGFBP7, ADAMTS3, or IL8.	Case:244 female total hip replacement patients;Control:375 female controls matched for age										
128623	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13-q21	IL8	74825138	74828297		McCarron, S. L.  et al. 2002	12067976				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Cancer research. 2002 Jun;62(12):3369-72	Influence of cytokine gene polymorphisms on the development of prostate cancer.		146930	25096	2	2002	These results suggest that single nucleotide polymorphisms associated with differential production of IL-8, IL-10, and VEGF are risk factors for PC, possibly acting via their influence on angiogenesis.	Case:247 prostate cancer patients;Control:263:controls										
128624		gastritis, chronic atrophic; stomach cancer	CANCER	CAN	Helicobacter Infections|Gastritis|Stomach Diseases|Stomach Neoplasms|Atrophy|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Taguchi, A.  et al. 2005	16284368				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Japanese	Japan	CDC GDPinfo	3576	Hs.624			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2487-93	Interleukin-8 promoter polymorphism increases the risk of atrophic gastritis and gastric cancer in Japan.		146930	25097	2	2005												
128619		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	4	4q13-q21	IL8	74825138	74828297		Campa, D.  et al. 2003	14604894				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Carcinogenesis. 2004 Feb;25(2):229-35	Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer.		146930	22611	2	2003	This is the first study implicating polymorphisms in inflammatory genes to the risk of lung cancer.	Control:214:controls;Case:250 lung cancer patients										
128620		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression|Inflammation	4	4q13-q21	IL8	74825138	74828297		Leibovici, D.  et al. 2005	16110031				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Journal of clinical oncology. 2005 Aug;23(24):5746-56	Polymorphisms in inflammation genes and bladder cancer: from initiation to recurrence, progression,and survival.		146930	22612	2	2005	 Inflammation gene polymorphisms are associated with modified BC risk, treatment response, and survival.		smoking (tobacco)									
128621		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297			16313297				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			International journal of immunogenetics. 2005 Dec;32(6):343-7	Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-alpha) gene polymorphisms and Graves' disease		146930	22613	2	2005												
128615		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	4	4q13-q21	IL8	74825138	74828297		Infante, J.  et al. 2005	15607204				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Journal of the neurological sciences. 2005 Jan;228(1):3-Nov	Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy		146930	22607	2	2005	These data support a role for inflammation-related genes in risk for MSA.	Case:41 multiple system atrophy (MSA) patients;Control:93 control subjects										
128616	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Hamajima, N.  et al. 2003	12662377				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Helicobacter. 2003 Apr;8(2):105-10	High anti-Helicobacter pylori antibody seropositivity associated with the combination of IL-8-251TT and IL-10-819TT genotypes.		146930	22608	2	2003	 The observed association suggests that individuals with interleukin-8-251TT and interleukin-10-819TT, a combination presumably causing mild inflammation, have a higher probability of the continuing Helicobacter pylori infection, especially among current smokers.	Cohort 454 health check-up examinees (126 males and 328 females) without a history of cancer, aged 35-85 years Nagoya, Japan 	smoking (tobacco)									
128617		melanoma	CANCER	CAN		4	4q13-q21	IL8	74825138	74828297		Chakravorty, M.  et al. 2004	15222686				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Indian		CDC GDPinfo	3576	Hs.624			Human biology; an international record of research. 2004 Feb;76(1):153-9	Ethnic differences in allele distribution for the IL8 and IL1B genes in populations from eastern India.		146930	22609	2	2004	We argue that different caste populations from the same geographic location can be pooled for the purpose of population association studies.	Cohort populations from eastern India eastern India 										
128612	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q13-q21	IL8	74825138	74828297		Gonzalez-Quintela, A.  et al. 2004	15902922				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Alcohol (Fayetteville, NY). 2004 Oct-Nov;34(3-Feb):273-7	Relation of tumor necrosis factor (TNF) gene polymorphisms with serum concentrations and in vitro production of TNF-alpha and interleukin-8 in heavy drinkers.		146930	14362	2	2004	In comparison with findings for control subjects, heavy drinkers showed higher TNF-alpha production, higher IL-8 production, and higher serum IL-8 concentrations. Increased serum TNF-alpha concentrations were specifically found in heavy drinkers with the -857 (C-->T) substitution (CT heterozygotes), therefore indicating an interaction between alcohol consumption and that polymorphism on serum TNF-alpha concentrations.	Control:14 healthy controls;Case:19 heavy drinkers										
128613	N	bacterial vaginosis	INFECTION	INF	Vaginosis, Bacterial|Pregnancy Complications, Infectious	4	4q13-q21	IL8	74825138	74828297		Diaz-Cueto, L.  et al. 2005	16038986			promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Journal of reproductive immunology. 2005 Aug;66(2):151-60	Genetic variation in the interleukin-8 gene promoter and vaginal concentrations of interleukin-8 are not associated with bacterial vaginosis during pregnancy.		146930	17789	2	2005												
128614		esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease|Inflammation	4	4q13-q21	IL8	74825138	74828297		Savage, S. A.  et al. 2004	15598788				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		China	CDC GDPinfo	3576	Hs.624			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2251-7	Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma.		146930	17790	2	2004	We conclude that  variation in IL8 seems to increase the risk for GCC but not ESCC in this high-risk population. These variants could confer an altered IL8 expression pattern or interact with environmental factors to increase the risk for inflammation and GCC.	Cohort subjects from the Nutrition Intervention Trials ;Case incident gastric cardia adenocarcinoma (n = 90) and esophageal squamous cell carcinoma (n = 131) cases:Linxian, China										
128608	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms	4	4q13-q21	IL8	74825138	74828297		Lee, W. P.  et al. 2005	16166417			promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Chinese	China	CDC GDPinfo	3576	Hs.624			Clinical cancer research. 2005 Sep;11(18):6431-41	The -251T allele of the interleukin-8 promoter is associated with increased risk of gastric carcinoma featuring diffuse-type histopathology in Chinese population.		146930	11927	2	2005	 The IL-8 -251T allele is significantly associated with increased risk of gastric carcinoma, particularly the diffuse and mixed types in Chinese population.											
128609	Y	smoking behavior	CHEMDEPENDENCY	CHEM		4	4q13-q21	IL8	74825138	74828297		Ito, H.  et al. 2005	16195815				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Japanese		CDC GDPinfo	3576	Hs.624			Journal of human genetics. 2005 ;50(11):567-73	Significant association of interleukin 8 -251T/A polymorphism with smoking behavior in a Japanese population.		146930	11928	2	2005												
128611	N	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Duymaz-Tozkir, J.  et al. 2005	15630732				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			The Journal of rheumatology. 2005 Jan;32(1):93-7	Polymorphisms of the IL-8 and CXCR2 genes are not associated with Bechet's disease.		146930	11931	2	2005	 These results suggest that the IL-8 gene -353 A/G, +1530 T/C, and +3331 A/G and the CXCR2 gene +785 C/T and +1208 T/C polymorphisms have no role in the increased expression of IL-8 in BD.	Control:100 healthy controls;Case:100 patients with Behcet's disease										
128605	Y	duodenal ulcer	UNKNOWN	UNK	Helicobacter Infections|Duodenal Ulcer|Genetic Predisposition to Disease|Inflammation	4	4q13-q21	IL8	74825138	74828297		Gyulai, Z.  et al. 2004	15627645				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			European cytokine network. 2004 Oct-Dec;15(4):353-8	Genetic polymorphism of interleukin-8 (IL-8) is associated with Helicobacter pylori-induced duodenal ulcer.		146930	11924	2	2004	 Analysis of the genetic predisposition to enhanced cytokine production revealed a significant association only for the IL-8 polymorphism. This observation draws attention to the possible importance of IL-8 polymorphism as a genetic predisposing factor in the pathomechanism of H. pylori-induced duodenal ulcer disease, and to the relative protection from duodenal ulcer disease that is associated with the TT genotype.	Control:47 H. pylori-positive healthy controls;Case:69 patients with H. pylori-positive duodenal ulcer:disease										
128606	Y	stomach cancer; gastric ulcer; gastritis; duodenal ulcer	CANCER	CAN	Helicobacter Infections|Gastritis|Duodenal Ulcer|Stomach Ulcer|Stomach Diseases|Stomach Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Ohyauchi, M.  et al. 2005	15710978	( -251 A/T)			Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Japanese		CDC GDPinfo	3576	Hs.624			Gut. 2005 Mar;54(3):330-5	The polymorphism interleukin 8 -251 A/T influences the susceptibility of Helicobacter pylori related gastric diseases in the Japanese population.		146930	11925	2	2005	 The IL-8 -251A allele may be associated with progression of gastric atrophy in patients with H pylori infection, and may increase the risk of gastric cancer and gastric ulcer in Japanese people.	Control:244 healthy control subjects;Case:690 H pylori positive patients with non-cardia gastric cancer, gastric ulcer, duodenal ulcer, or gastritis										
128607		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Arinir, U.  et al. 2005	16007706				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			Electrophoresis. 2005 Aug;26(15):2888-91	Polymorphisms in the interleukin-8 gene in patients with chronic obstructive pulmonary disease.		146930	11926	2	2005												
128602	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	4	4q13-q21	IL8	74825138	74828297		Rovin, B. H.  et al. 2002	12081586				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	African Americans		CDC GDPinfo	3576	Hs.624			Kidney international. 2002 Jul;62(1):261-5	A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis.		146930	11920	2	2002	 IL-8-845C might predispose African Americans with SLE nephritis to more severe renal injury, perhaps by influencing IL-8 expression. Genotyping patients with glomerulonephritis for IL-8 polymorphisms may be useful in predicting disease outcome and individualizing immunosuppressive therapy.	Cohort 100 patients with SLE nephritis 										
128603	Y	nephritis	RENAL	REN	Nephritis|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Amoli, M. M.  et al. 2002	12415593				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			The Journal of rheumatology. 2002 Nov;29(11):2367-70	Interleukin 8 gene polymorphism is associated with increased risk of nephritis in cutaneous vasculitis.		146930	11921	2	2002	 In unselected patients with cutaneous vasculitis, carriage of IL-8 allele A influences the susceptibility to renal involvement.	Cohort 50 patients (25 men) with primary cutaneous vasculitis classified as Henoch-Schonlein purpura according to proposed criteria Northwest Spain 										
128604	Y	asthma; respiratory syncytial virus; juvenile arthritis	IMMUNE	IMM	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections|Arthritis, Juvenile Rheumatoid|Asthma|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Heinzmann, A.  et al. 2004	15356575				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDPinfo	3576	Hs.624			The Journal of allergy and clinical immunology. 2004 Sep;114(3):671-6	Association study suggests opposite effects of polymorphisms within IL8 on bronchial asthma and respiratory syncytial virus bronchiolitis		146930	11922	2	2004	 This is the first study to describe association of IL-8 with asthma and a significant inverse distribution of the polymorphisms in juvenile idiopathic arthritis. In addition, the results of this study might suggest that RSV bronchiolitis and bronchial asthma have at least some different genetic factors.	Control:controls;Case children with asthma, atopic children, children with juvenile idiopathic arthritis										
128598		enteroaggregative Escherichia coli diarrhea	INFECTION	INF	Escherichia coli Infections|Genetic Predisposition to Disease|Diarrhea	4	4q13-q21	IL8	74825138	74828297		Jiang ZD 2003	12898436				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Mexico|United States	KGB	3576	Hs.624			The Journal of infectious diseases. 2003 Aug;188(4):506-11	Genetic susceptibility to enteroaggregative Escherichia coli diarrhea: polymorphism in the interleukin-8 promotor region.		146930	3766	1	2003												
128599	Y	tuberculosis disease	INFECTION	INF	Tuberculosis|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Ma X 2003	12870115				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Texas	KGB	3576	Hs.624			The Journal of infectious diseases. 2003 Aug;188(3):349-55	Association between interleukin-8 gene alleles and human susceptibility to tuberculosis disease.		146930	3767	1	2003	These data suggest that IL-8 is important in the genetic control of human TB susceptibility.	Case white subjects with TB disease;Control:cont										
128600	Y	severe RSV bronchiolitis	INFECTION	INF	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297	0.004	Hull J 2004	14605870	AFM+15790C/IL8?251T	not known	other	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	UK Caucasian	Great Britain	KGB	3576	Hs.624			Human genetics. 2004 Feb;114(3):272-9	Haplotype mapping of the bronchiolitis susceptibility locus near IL8.		146930	3768	1	2004		Case:580; Control:580										
128595	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	4	4q13-q21	IL8	74825138	74828297		Rovin BH et al. 2002	12081586				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			KGB	3576	Hs.624			Kidney international. 2002 Jul;62(1):261-5	A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis.		146930	3763	1	2002	 IL-8-845C might predispose African Americans with SLE nephritis to more severe renal injury, perhaps by influencing IL-8 expression. Genotyping patients with glomerulonephritis for IL-8 polymorphisms may be useful in predicting disease outcome and individualizing immunosuppressive therapy.	Cohort 100 patients with SLE nephritis										
128596	Y	nephritis	RENAL	REN	Nephritis|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Amoli MM et al. 2002	12415593				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			KGB	3576	Hs.624			The Journal of rheumatology. 2002 Nov;29(11):2367-70	Interleukin 8 gene polymorphism is associated with increased risk of nephritis in cutaneous vasculitis.		146930	3764	1	2002	 In unselected patients with cutaneous vasculitis, carriage of IL-8 allele A influences the susceptibility to renal involvement.	Cohort 50 patients (25 men) with primary cutaneous vasculitis classified as Henoch-Schonlein purpura according to proposed criteria Northwest Spain										
128597	Y	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297	0.043	Landi et al., 2003	12839942	-251 T>A		5'promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Spanish	Spain	GAN (IARC) and GRG (University of Pisa)	3576	Hs.624			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		146930	3765	1	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
128591	Y	diabetes, type 2; glucose tolerance; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	1	1q21	IL6R	152644292	152706812		Hamid, Y. H.  et al. 2004	15561970				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2	Danish	Denmark	CDC GDPinfo	3570	Hs.591492			Diabetes. 2004 Dec;53(12):3342-5	Variation in the interleukin-6 receptor gene associates with type 2 diabetes in Danish whites.		147880	17785	2	2004	In conclusion, the Asp358Ala polymorphism of the IL6R associates with type 2 diabetes in Danish whites.	Case:1,349 type 2 diabetic patients:Denmark;Control:4,596 glucose-tolerant controls										
128592	N	diabetes, type 2; insulin; diabetic nephropathy; obesity	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Insulin Resistance	1	1q21	IL6R	152644292	152706812		Wang, H.  et al. 2004	15562008				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2		Arkansas|Utah	CDC GDPinfo	3570	Hs.591492			The Journal of clinical endocrinology and metabolism. 2005 Feb;90(2):1123-9	Molecular screening and association analyses of the interleukin 6 receptor gene variants with type 2 diabetes, diabetic nephropathy, and insulin sensitivity.		147880	17786	2	2004	IL6R is not likely to explain the linkage to diabetes in this region, but our work supports a minor role of variants in T2DM risk and suggests that sequence variants may alter IL6R mRNA levels and possibly levels of soluble IL6R.	Cohort Northern European Caucasians and African Americans 										
128594	Y	Respiratory Syncytial Virus (RSV)	OTHER	OTH	Respiratory Syncytial Virus Infections|Bronchiolitis|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Hull J 2000	11083887	251A			Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	United Kingdom		TJB	3576	Hs.624			Thorax. 2000 Dec;55(12):1023-7			146930	3762	1	2000	 Disease severity following RSV infection appears to be determined by a genetic factor close to the IL-8 gene. Further analysis of this effect may elucidate causal processes in the pathogenesis of RSV bronchiolitis.											
128587		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	3	3p26-p24	IL5RA	3086420	3127031		Cheong, H. S.  et al. 2005	16217591				Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2			CDC GDPinfo	3568	Hs.68876			Journal of human genetics. 2005 ;50(12):628-34	Association analysis of interleukin 5 receptor alpha subunit (IL5RA) polymorphisms and asthma.		147851	11843	2	2005												
128588		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	3	3p26-p24	IL5RA	3086420	3127031		Zee, R. Y.  et al. 2002	12082592				Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2			CDC GDPinfo	3568	Hs.68876			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147851	28628	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128589		soluble IL-6 receptor	UNKNOWN	UNK		1	1q21	IL6R	152644292	152706812		Galicia, J. C.  et al. 2004	15306846				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2			CDC GDPinfo	3570	Hs.591492			Genes and immunity. 2004 Sep;5(6):513-6	Polymorphisms in the IL-6 receptor (IL-6R) gene:strong evidence that serum levels of soluble IL-6R are genetically influenced.		147880	11918	2	2004	no conclusion in abstract	Cohort 115 healthy volunteers 										
128590	Y	obesity; hyperandrogenism	METABOLIC	MET	Obesity|Hyperandrogenism	1	1q21	IL6R	152644292	152706812		Escobar-Morreale, H. F.  et al. 2003	12917504				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2			CDC GDPinfo	3570	Hs.591492			Obesity research. 2003 Aug;11(8):987-96	Association of polymorphisms in the interleukin 6 receptor complex with obesity and hyperandrogenism		147880	11919	2	2003	Polymorphisms in the gp130 and IL6R-alpha loci influence hyperandrogenism and obesity, respectively. Our present results further suggest that proinflammatory genotypes are involved in the pathogenesis of these common metabolic disorders.	Case:143 hyperandrogenic patients:Spain;Control:45 healthy women										
128583		atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL5	131905034	131920427		Hoffjan, S.  et al. 2004	15007355				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			CDC GDPinfo	3567	Hs.2247			The Journal of allergy and clinical immunology. 2004 Mar;113(3):511-8	Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.		147850	26298	2	2004	 These data suggest that variations in genes involved in immune regulation are associated with biologic and clinical phenotypes in the first year of life that might increase the risk for the subsequent development of childhood asthma.	Cohort 207 European American children participating in the Childhood Origin of Asthma study 										
128584		small for gestational age	UNKNOWN	UNK	Premature Birth	5	5q31.1	IL5	131905034	131920427		Engel, S. A.  et al. 2005	15951665				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2		North Carolina	CDC GDPinfo	3567	Hs.2247			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):478-86	Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.		147850	26299	2	2005	 Variants related to decreased anti-inflammatory cytokine production may lower risk of SGA. Furthermore, the same mechanism that protects against SGA might increase risk of spontaneous preterm birth.											
128585		celiac disease	IMMUNE	IMM	Celiac Disease	5	5q31.1	IL5	131905034	131920427		Ryan, A. W.  et al. 2005	15713213				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2		Ireland	CDC GDPinfo	3567	Hs.2247			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		147850	26300	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
128580	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL5	131905034	131920427		Hong, S. J.  et al. 2005	15805995				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2	Korean	Korea	CDC GDPinfo	3567	Hs.2247			The Journal of allergy and clinical immunology. 2005 Apr;115(4):758-63	IL-5 and thromboxane A2 receptor gene polymorphisms are associated with decreased pulmonary function in Korean children with atopic asthma.		147850	14179	2	2005	 The current study indicates that IL-5 (T-746C) and TBXA2R (T924C) polymorphisms alone are associated with spirometric markers of asthma severity, whereas they are not associated with presence of asthma per se. In addition, the data suggest that an interaction between IL-5 and TBXA2R genes may contribute to the severity of asthma, especially atopic asthma. These results suggest that IL-5 and TBXA2R genes may be disease-modifying genes in Korean children with atopic asthma.	Control:106 nonatopic healthy children;Case:240/70 Korean atopic children with asthma (n=240) and nonatopic children with asthma (n=70)										
128581		dermatitis and eczema	IMMUNE	IMM	Eosinophilia|Dermatitis, Atopic	5	5q31.1	IL5	131905034	131920427		Yamamoto, N.  et al. 2003	14581138				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			CDC GDPinfo	3567	Hs.2247			Journal of dermatological science. 2003 Nov;33(2):121-6	Heterogeneity of interleukin 5 genetic background in atopic dermatitis patients: significantdifference between those with blood eosinophilia and normal eosinophil levels.		147850	17762	2	2003	 These results suggest that the IL5 gene may play a role in blood eosinophilia associated with atopic dermatitis. We also considered that the IL5 -703C/T gene polymorphism does not have a direct relationship to disease specificity.	Control:116 normal subjects;Case:451` atopic dermatitis patients										
128582		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	5	5q31.1	IL5	131905034	131920427		Cantor, M. J.  et al. 2005	15842590				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			CDC GDPinfo	3567	Hs.2247			The American journal of gastroenterology. 2005 May;100(5):1134-42	The role of cytokine gene polymorphisms in determining disease susceptibility and phenotype in inflammatory bowel disease.		147850	25036	2	2005	 The cytokine gene polymorphisms studied here do not appear to influence IBD susceptibility. There does, however, appear to be an influence on disease phenotype, particularly on CD site.	Case:193 IBD patients (Crohn's disease (n=138) and ulcerative colitis (n=55));Control:92:controls										
128576		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Barton, A.  et al. 2002	11981324				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147781	28485	2	2002	Review article											
128577		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	16	16p11.2-12.1	IL4R	27232751	27283600		Zee, R. Y.  et al. 2002	12082592				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147781	28623	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128578		Eosinophilia	OTHER	OTH	Eosinophilia	5	5q31.1	IL5	131905034	131920427		Rioux 1998	9758611	IL5-703			Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			KGB	3567	Hs.2247			American journal of human genetics. 1998 Oct;63(4):1086-94			147850	3758	1	1998												
128579	N	Eosinophilia	OTHER	OTH	Eosinophilia	5	5q31.1	IL5	131905034	131920427	n	Rioux 1998	9758611	IL5 168			Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			KGB	3567	Hs.2247			American journal of human genetics. 1998 Oct;63(4):1086-94			147850	3759	1	1998												
128573		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600		Trajkov, D.  et al. 2005	16100774				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147781	28066	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128574		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	16	16p11.2-12.1	IL4R	27232751	27283600		Wang, C.  et al. 2004	15057902				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		147781	28158	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
128575		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Cinek, O.  et al. 2004	15170937				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Czech	Czech Republic	CDC GDPinfo	3566	Hs.513457			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147781	28159	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128570		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Marshall, S. E.  et al. 2001	11233912				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147781	27765	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
128571		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	16	16p11.2-12.1	IL4R	27232751	27283600		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147781	27945	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
128567		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	16	16p11.2-12.1	IL4R	27232751	27283600		Genevay, S.  et al. 2002	12115161				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147781	27046	2	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
128568		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		16	16p11.2-12.1	IL4R	27232751	27283600		De Capei, M. U.  et al. 2003	12558814				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		147781	27511	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
128569		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Inoue, T.  et al. 2002	12020266				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese		CDC GDPinfo	3566	Hs.513457			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		147781	27764	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
128564	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Wang, C.  et al. 2004	15021309				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		147781	27043	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
128565		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	16	16p11.2-12.1	IL4R	27232751	27283600		Rosner, S. A.  et al. 2005	16184405				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		147781	27044	2	2005			smoking (tobacco)									
128566		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Hattori, H.  et al. 2002	12420205				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese		CDC GDPinfo	3566	Hs.513457			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147781	27045	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
128561		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Nieters, A.  et al. 2001	11354638				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German	Germany	CDC GDPinfo	3566	Hs.513457			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		147781	27040	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
128562		interstitial cystitis	INFECTION	INF	Cystitis, Interstitial	16	16p11.2-12.1	IL4R	27232751	27283600		Sugaya, K.  et al. 2002	12442007				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			The Journal of urology. 2002 Dec;168(6):2668-71	Molecular analysis of adrenergic receptor genes and interleukin-4/interleukin-4 receptor genes in patients with interstitial cystitis.		147781	27041	2	2002	 Variants of the ADRB2, ADRA1d and IL-4 genes may be related to a predisposition to interstitial cystitis.	Control:228:controls;Case:55 patients with interstitial cystitis										
128563		asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Nanavaty, U.  et al. 2001	11202474				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		147781	27042	2	2001	Review article											
128558	Y	atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600		Nieters, A.  et al. 2004	15005726				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Clinical and experimental allergy. 2004 Mar;34(3):346-53	Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.		147781	26296	2	2004	 Our data suggest an association of genetic variants in IL-6 and IL-2 with hayfever, confirm a role of polymorphisms in IL-4R, IL-13, and IL-18 for the elevated IgE phenotype, and add IL-6 to the list of candidate genes.	Case:322 subjects with hayfever from the European Prospective Investigation into Cancer and:Nutrition-Heidelberg;Control:322 age- and sex-matched controls										
128559		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	16	16p11.2-12.1	IL4R	27232751	27283600		Steck, A. K.  et al. 2005	16046318				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Diabetes. 2005 Aug;54(8):2482-6	Association of non-HLA genes with type 1 diabetes autoimmunity.		147781	26297	2	2005												
128560		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Pereira, N. F.  et al. 2004	15566952				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		147781	27039	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
128554		atopy	IMMUNE	IMM	Prenatal Exposure Delayed Effects	16	16p11.2-12.1	IL4R	27232751	27283600		Liu, X.  et al. 2003	12897746				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Germany	CDC GDPinfo	3566	Hs.513457			The Journal of allergy and clinical immunology. 2003 Aug;112(2):382-8	Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13, and IL4RA in German children: The GermanMulticenter Atopy Study		147781	25032	2	2003	 These findings suggest that variants C-1055T and Arg130Gln of the IL13 gene might play an important role on total serum IgE production in this study population.	Cohort 823 unrelated German children from a large infant cohort Germany 										
128555	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Liu, X.  et al. 2004	15007352				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German	Germany	CDC GDPinfo	3566	Hs.513457			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German MulticenterAtopy Study.		147781	25033	2	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study 	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal									
128556		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	16	16p11.2-12.1	IL4R	27232751	27283600		Maier, L. M.  et al. 2005	15660293				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			American journal of human genetics. 2005 Mar;76(3):517-21	No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.		147781	25034	2	2005	We did not find any single-locus associations with T1D and did not obtain evidence of gene-gene interaction. Additional support from independent samples will be even more important in the study of gene-gene interactions and other subgroup analyses.	Control:controls;Case type 1 diabetes cases										
128551		lung function	OTHER	OTH		16	16p11.2-12.1	IL4R	27232751	27283600		He, J. Q.  et al. 2003	12594065				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			American journal of respiratory cell and molecular biology. 2003 Mar;28(3):379-85	Polymorphisms in the IL13, IL13RA1, and IL4RA genes and rate of decline in lung function in smokers.		147781	25029	2	2003	The IL4RA 551RR genotype was associated with rapid decline of lung function (odds ratio, 2.24; P = 0.043). However, none of the other four polymorphisms was associated with rate of decline in lung function. The association of 551RR with rapid decline of lung function became more significant in subjects who also had either the IL13 130RR or -1112TT genotypes. However, because multiple comparisons were made and only a few individuals had the 551RR genotype, these associations may represent type 1 error. Haplotypes consisting of alleles from the IL13 polymorphisms or from the IL4RA polymorphisms were not associated with rate of decline in lung function in smokers.	Cohort 588 continuing smokers chosen from the NHLBI lung Health Study 										
128552	Y	asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Cui, T.  et al. 2003	12973929				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Chinese		CDC GDPinfo	3566	Hs.513457			Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(2):134-7	Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma.		147781	25030	2	2003	These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China.	Case asthmatic patients:China;Control:controls										
128553	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Bugawan, T. L.  et al. 2003	12748907				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Philippines	CDC GDPinfo	3566	Hs.513457			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos.		147781	25031	2	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
128548		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	16	16p11.2-12.1	IL4R	27232751	27283600		Ligeiro, D.  et al. 2004	15194285				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		147781	25026	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
128549		renal allograft outcome	UNKNOWN	UNK	Acute Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Hahn, A. B.  et al. 2001	11544427				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Transplantation. 2001 Aug;72(4):660-5	TNF-alpha, IL-6, IFN-gamma, and IL-10 gene expression polymorphisms and the IL-4 receptor alpha-chain variant Q576R: effects on renalallograft outcome		147781	25027	2	2001	 These data would suggest that the production of high levels of the cytokine TNF-alpha is especially detrimental to graft survival when the recipient's T-helper lymphocytes are being activated by mismatched donor HLA-class II antigens. Typing all potential kidney recipients for TNF-alpha, and providing well-matched organs for high producers of this cytokines, may be expected to increase rejection-free graft survival in these patients.	Cohort 120 transplant patients 										
128550		brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Schwartzbaum, J.  et al. 2005	16024651				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Cancer research. 2005 Jul;65(14):6459-65	Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.		147781	25028	2	2005												
128545		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	16	16p11.2-12.1	IL4R	27232751	27283600		Hoebee, B.  et al. 2003	12508140				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			The Journal of infectious diseases. 2003 Jan;187(1):11-Feb	Association of severe respiratory syncytial virus bronchiolitis with interleukin-4 and interleukin-4 receptor alpha polymorphisms.		147781	22586	2	2003	These results indicate that gain-of-function variants of T helper type 2 cytokine genes may play a role in increasing the severity of RSV disease, which appears more pronounced after the first half-year of life.	Case hospitalized infants with respiratory syncytial virus bronchiolitis;Control random population sample										
128546		minimal change nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Nephrotic Syndrome|Hypersensitivity|Disease Progression|Genetic Predisposition to Disease|Recurrence	16	16p11.2-12.1	IL4R	27232751	27283600		Kobayashi, Y.  et al. 2003	12900808				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	CDC GDPinfo	3566	Hs.513457			American journal of kidney diseases. 2003 Aug;42(2):271-6	Polymorphisms of interleukin-4--related genes in Japanese children with minimal change nephrotic syndrome.		147781	22587	2	2003	 These results suggest that genetic variations in the IL-4 and STAT6 genes may be associated with predisposition to MCNS, partially the clinical course of MCNS.	Case:58 Japanese children with minimal change nephrotic:syndrome;Control:63 healthy controls with neither allergic nor renal:disease										
128547	Y	dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600		Tanaka, K.  et al. 2002	11922633				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Japan	CDC GDPinfo	3566	Hs.513457			Biochemical and biophysical research communications. 2002 Apr;292(3):776-80	Genetic variants of the receptors for thromboxane A2 and IL-4 in atopic dermatitis.		147781	22588	2	2002	These results suggest TXA2 receptor polymorphism strongly interacts with IL-4Ralpha polymorphism as a major determinant of high serum immunoglobulin E levels in AD.	Cohort 789 individuals in a Japanese population 										
128542	N	IgE	IMMUNE	IMM	Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600		Franjkovic, I.  et al. 2005	15712015				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Immunogenetics. 2005 Feb;56(11):808-17.	Effects of common atopy-associated amino acid substitutions in the IL-4 receptor alpha chain on IL-4 induced phenotypes		147781	17759	2	2005	We conclude that common coding SNPs in the IL4R gene are unlikely to contribute significantly to increased IgE levels and variations outside the coding region may influence atopy susceptibility.	Cohort 300/689 blood donorsfrom two separate samples populations (n=300/689) 										
128543		stroke; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Hoppe, C.  et al. 2003	14615367				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Blood. 2004 Mar;103(6):2391-6	Gene interactions and stroke risk in children with sickle cell anemia.		147781	22584	2	2003	If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.	Cohort 230 children with sickle cell anemia 										
128544		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Leung, T. F.  et al. 2002	12422339				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Chinese	China	CDC GDPinfo	3566	Hs.513457			Pediatric pulmonology. 2002 Dec;34(6):419-24	Distribution in allele frequencies of predisposition-to-atopy genotypes in Chinese children.		147781	22585	2	2002	Our results demonstrate ethnic differences in polymorphisms of atopy candidate genes. Additional studies involving larger samples are required to investigate the association between asthma or atopy and the genotypes studied to date in Chinese children.	Case:67 Chinese children with asthma:China;Control:70 age- and sex-matched controls										
128539		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting	16	16p11.2-12.1	IL4R	27232751	27283600		Hackstein, H.  et al. 2001	11164908				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Journal of neuroimmunology. 2001 Feb;113(2):240-8	Analysis of interleukin-4 receptor alpha chain variants in multiple sclerosis		147781	17750	2	2001	These results indicate, that the IL4R variant R551 may influence the genetic predisposition for PPMS but does not represent a general genetic risk factor for MS.	Cohort 305 healthy controls Germany ;Case:341 MS patients:Germany										
128540	Y	eczema	IMMUNE	IMM	Bacterial Infections|Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600		Callard, R. E.  et al. 2002	12100043				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Clinical and experimental allergy. 2002 Jul;32(7):990-3	An interaction between the IL-4Ralpha gene and infection is associated with atopic eczema in young children.		147781	17752	2	2002	 There is an association between the R551 polymorphism and flexural eczema in children at 6 months of age who have not had infection requiring treatment with antibiotics. Restriction of the R551 association with eczema to children who have not had antibiotics lends support to the 'hygiene hypothesis', which states that exposure to infection in childhood can protect against allergic disease.	Cohort Children in Focus (CiF) cohort of the Avon Longitudinal Study of Parents and Children (ALSPAC) 										
128541	Y	osteoarthritis	AGING	AGE	Osteoarthritis	16	16p11.2-12.1	IL4R	27232751	27283600		Forster, T.  et al. 2004	14745651				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Caucasian		CDC GDPinfo	3566	Hs.513457			Human genetics. 2004 Mar;114(4):391-5	Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis.		147781	17756	2	2004	Our data suggest that functional variants within the IL4R gene predispose to hip OA in Caucasian females.	Case:146 female probands with osteoarthritis;Control:399 age-matched female controls										
128535	Y	IL-4	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600		Hackstein, H.  et al. 2001	11491529			promoter	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Immunogenetics. 2001 May-Jun;53(4):264-9	A novel polymorphism in the 5' promoter region of the human interleukin-4 receptor alpha-chain gene is associated with decreased soluble interleukin-4 receptor protein levels.		147781	11835	2	2001	We conclude that  it may be of importance for the genetic regulation of the IL-4 signalling pathway.	Cohort 230 healthy, voluntary adult blood donors 										
128536		atopy	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Woitsch, B.  et al. 2004	15564773				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Germany	CDC GDPinfo	3566	Hs.513457			International archives of allergy and immunology. 2004 Dec;135(4):319-24	A comprehensive analysis of interleukin-4 receptor polymorphisms and their association with atopy and IgE regulation in childhood.		147781	11840	2	2004	 These data indicate that IL4Ra polymorphisms, although suggested to be functionally relevant by in vitro studies, have only a minor influence on IgE regulation in our large population sample.	Cohort 1,120 German population sample individuals 										
128538		hepatitis; liver disease, chronic	OTHER	OTH	Hepatitis B, Chronic|Hepatitis C, Chronic|Genetic Predisposition to Disease|Fibrosis	16	16p11.2-12.1	IL4R	27232751	27283600			15981567	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDPinfo	3566	Hs.513457			Molekuliarnaia biologiia. 2005 May-Jun;39(3):379-84	[Association study of the Ile50Val polymorphism of interleukin-4 receptor gene (IL4RA) with chronic viral hepatitis]		147781	11842	2	2005												
128531	Y	osteoarthritis	AGING	AGE	Osteoarthritis	16	16p11.2-12.1	IL4R	27232751	27283600		Forster T 2004	14745651				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic		KGB	3566	Hs.513457			Human genetics. 2004 Mar;114(4):391-5	Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis.		147781	3755	1	2004	Our data suggest that functional variants within the IL4R gene predispose to hip OA in Caucasian females.	Case:146 female probands with osteoarthritis;Control:399 age-matched female controls										
128533	Y	Hyper-IgE syndrome. severe eczema. atopy	IMMUNE	IMM	Dermatitis, Atopic|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0018	Hershey GKK 1997	9392697	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			The New England journal of medicine. 1997 Dec;337(24):1720-5			147781	3757	1	1997	 The R576 allele of interleukin-4 receptor alpha is strongly associated with atopy. This mutation may predispose persons to allergic diseases by altering the signaling function of the receptor.											
128534	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Chronic Disease	5	5q22-q32; 5q31.1	CD14	139991500	139993439		Donati, M.  et al. 2005	15842262	C-159T			CD14 molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian	Sweden	CDC GDPinfo	929	Hs.163867			Journal of clinical periodontology. 2005 May;32(5)	Association of the -159 CD14 gene polymorphism and lack of association of the -308 TNFA and Q551R IL-4RA polymorphisms with severe chronic periodontitis in Swedish Caucasians.		158120	9280	2	2005	 It is suggested that the -159 CD14 gene polymorphism is associated with chronic periodontitis in Caucasian subjects of a north European origin.	Control:39 patients (aged 36-74 years; mean 54.5+/-8.5) with severe and generalized chronic periodontitis;Case:60 patients (aged 36-74 years; mean 54.5+/-8.5) with severe and generalized chronic periodontitis										
128528	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Bugawan TL et al. 2003	12748907				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Filipinos	Philippines	Y Wang	3566	Hs.513457			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos.		147781	3752	1	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
128529	Y	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Liu X 2004	15007352				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German	Germany	KGB	3566	Hs.513457			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study.		147781	3753	1	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal									
128530		periodontal disease	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Pontes CC 2004	15001290				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	American	Cameroon|Angola|Brazil	KGB	3566	Hs.513457			Journal of dentistry. 2004 Mar;32(3):241-6	'Interleukin-4 gene polymorphism and its relation to periodontal disease in a Brazilian population of African heritage'.		147781	3754	1	2004	 We concluded that the studied IL-4 polymorphisms were not related to periodontal disease susceptibility in this African-American Brazilian population.											
128524	Y	atopic eczema	IMMUNE	IMM	Bacterial Infections|Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600		Callard RE et al. 2002	12100043				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Clinical and experimental allergy. 2002 Jul;32(7):990-3	An interaction between the IL-4Ralpha gene and infection is associated with atopic eczema in young children.		147781	3748	1	2002	 There is an association between the R551 polymorphism and flexural eczema in children at 6 months of age who have not had infection requiring treatment with antibiotics. Restriction of the R551 association with eczema to children who have not had antibiotics lends support to the 'hygiene hypothesis', which states that exposure to infection in childhood can protect against allergic disease.	Cohort Children in Focus (CiF) cohort of the Avon Longitudinal Study of Parents and Children (ALSPAC)										
128525	N	Atopic Eczema	IMMUNE	IMM	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600	n	Tanaka K 2001	11678851	I1e50Val. Ala375Glu. and Arg551Gln			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Japan	KGB	3566	Hs.513457			Clinical and experimental allergy. 2001 Oct;31(10):1522-7			147781	3749	1	2001	 These results suggest that the polymorphisms in the IL-4 gene and the IL-4 receptor alpha chain gene play no role in the development of atopic eczema in patients who have normal IgE productivity.											
128526	Y	adult atopic dermatitis	OTHER	OTH	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600		Oiso N et al. 2000	10809862				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Japan	KGB	3566	Hs.513457			The British journal of dermatology. 2000 May;142(5):1003-6	Interleukin 4 receptor alpha chain polymorphism Gln551Arg is associated with adult atopic dermatitis in Japan.		147781	3750	1	2000												
128518		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Olavesen MG et al. 2000	10663555				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Immunogenetics. 2000 Jan;51(1):7-Jan	Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease.		147781	3742	1	2000												
128519	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Patuzzo C et al. 2000	10905893				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Italian	Italy	KGB	3566	Hs.513457			Journal of medical genetics. 2000 May;37(5):382-4	No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families.		147781	3743	1	2000												
128521	N	Asthma	IMMUNE	IMM	Asthma|Airway Obstruction	16	16p11.2-12.1	IL4R	27232751	27283600	n	Sandford AJ 2000	10887316	IL4RA*Q576R			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			The Journal of allergy and clinical immunology. 2000 Jul;106(1 Pt 1):135-40			147781	3745	1	2000	 These data suggest that the IL4*-589T allele is a risk factor for life-threatening asthma and that the IL4RA*576R allele is a risk factor for a low level of lung function in asthmatic subjects.											
128522	N	atopy	IMMUNE	IMM	Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	n	Haagerup A et al. 2001	11488673				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Allergy. 2001 Aug;56(8):775-9	No linkage and association of atopy to chromosome 16 including the interleukin-4 receptor gene.		147781	3746	1	2001	 We found chromosome 16 unlikely to harbor strong candidate genes for type I allergy. The role of the IL4Ralpha gene in the inheritance of atopy was insignificant in the Danish population. The use of conservative allergy phenotypes in the search for genes predisposing to atopic disease was discussed.											
128514	Y	atopy and influence the signal transduction	OTHER	OTH	Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600		Kruse S et al. 1999	10233717				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Immunology. 1999 Mar;96(3):365-71	The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction.		147781	3738	1	1999	We conclude that  P503 and R576 influence the signal transduction pathways through the IL-4Ralpha, an effect that is magnified by the presence of both polymorphisms. This could explain the observed association effects with lowered total IgE concentrations.											
128515	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Risma KA et al. 2002	12133990				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Journal of immunology (Baltimore, Md :  1950). 2002 Aug;169(3):1604-10	V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function.		147781	3739	1	2002												
128516	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	16	16p11.2-12.1	IL4R	27232751	27283600		Mirel DB et al. 2002	12401728				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Diabetes. 2002 Nov;51(11):3336-41	Association of IL4R haplotypes with type 1 diabetes.		147781	3740	1	2002												
128517	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600		Deichmann KA et al. 1998	9515586				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Clinical and experimental allergy. 1998 Feb;28(2):151-5	Linkage and allelic association of atopy and markers flanking the IL4-receptor gene.		147781	3741	1	1998	 We conclude from our findings that maternal inheritance of a gene in the chromosome 16p12 region increases the risk for enhanced IgE responsiveness. The most prominent candidate in this region is represented by the IL4 receptor gene.											
128510	Y	Total serum IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0.02	Howard TD 2001	11709756	E375A			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Dutch	Netherlands	KGB	3566	Hs.513457			American journal of human genetics. 2002 Jan;70(1):230-6			147781	3734	1	2001												
128511		Asthma severity	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Rosa-Rosa L 1999	10550746	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	U.S.		KCB	3566	Hs.513457			The Journal of allergy and clinical immunology. 1999 Nov;104(5):1008-14			147781	3735	1	1999	 Thus R576IL-4Ralpha acts as an allergic asthma susceptibility and disease-modifying gene and may serve as a clinically useful marker of asthma severity.											
128512	Y	Normal volunteers	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0017	Hackstein H 2001	11491529	the -3223T variant	decreased soluble interleukin-4 receptor protein levels	5`promoter	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Immunogenetics. 2001 May-Jun;53(4):264-9	A novel polymorphism in the 5' promoter region of the human interleukin-4 receptor alpha-chain gene is associated with decreased soluble interleukin-4 receptor protein levels.		147781	3736	1	2001	We conclude that  it may be of importance for the genetic regulation of the IL-4 signalling pathway.	Cohort 230 healthy, voluntary adult blood donors										
128513	N	Atopic dermatitis	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	Silent (Leu414Leu)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3737	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128505	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	n	Heinzmann A 2000	10699178	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German		KCB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3729	1	2000												
128506	N	Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	n	Takabayashi A 2000	10810222	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese		KCB	3566	Hs.513457			Experimental and clinical immunogenetics. 2000 ;17(2):63-70			147781	3730	1	2000												
128507	N	Atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3731	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128508	N	Atopy	IMMUNE	IMM	Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	n	Rogala B 2001	11908817	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Polish		KGB	3566	Hs.513457			Journal of investigational allergology & clinical immunology. 2001 ;11(4):285-9			147781	3732	1	2001												
128500	N	Atopic dermatitis	OTHER	OTH	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600	n	Oiso N 2000	10809862	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	KGB	3566	Hs.513457			The British journal of dermatology. 2000 May;142(5):1003-6			147781	3724	1	2000												
128501		IL4R allele frequency	OTHER	OTH	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Caggana M 1999	11258628	Gln551Arg and Ile50Val	``enhanced signaling`` variants (Ile50/Arg551)		Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	African American. caucasian		KGB	3566	Hs.513457			Genetics in medicine. 1999 Sep-Oct;1(6):267-71			147781	3725	1	1999	 Enhanced IL-4R signaling is associated with increased IgE production (atopy). Therefore, our data suggest that the African American population may be at increased risk for diseases, including asthma, which are associated with atopy. These data also emphasize the importance of determining the frequencies of single nucleotide polymorphisms in different populations before drawing conclusions from allele association studies, since the background allele frequencies may be disparate between different populations.											
128502	N	Atopic dermatitis	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	Cys431Arg			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3726	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128495	Y	multiple sclerosis(PPmultiple sclerosis)	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting	16	16p11.2-12.1	IL4R	27232751	27283600	0.001	Hackstein H 2001	11164908	IL4R variant R551			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Journal of neuroimmunology. 2001 Feb;113(2):240-8	Analysis of interleukin-4 receptor alpha chain variants in multiple sclerosis		147781	3719	1	2001	These results indicate, that the IL4R variant R551 may influence the genetic predisposition for PPMS but does not represent a general genetic risk factor for MS.	Cohort 305 healthy controls Germany ;Case:341 MS patients:Germany										
128496	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	n	Heinzmann A 2000	10699178	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3720	1	2000												
128497	N	Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	n	Noguchi E 1999	10390422	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	KCB	3566	Hs.513457			American journal of respiratory and critical care medicine. 1999 Jul;160(1):342-5			147781	3721	1	1999												
128491	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	p=0.005	Aithal GP 2001	11294568	Codon 576			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	British	Great Britain	KGB	3566	Hs.513457			Genes and immunity. 2001 Feb;2(1):44-7			147781	3715	1	2001		Case:184; Control:321										
128492	Y	Total serum IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0007	Howard TD 2001	11709756	S478P			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Netherlands	KGB	3566	Hs.513457			American journal of human genetics. 2002 Jan;70(1):230-6			147781	3716	1	2001												
128485	Y	Total serum IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.01	Howard TD 2001	11709756	C406R			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Netherlands	KGB	3566	Hs.513457			American journal of human genetics. 2002 Jan;70(1):230-6			147781	3709	1	2001												
128486	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=<0.05	Ober C 2000	10677312	Glu375Ala. Cys406Arg			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		United States	KCB	3566	Hs.513457			American journal of human genetics. 2000 Feb;66(2):517-26			147781	3710	1	2000												
128488	Y	Atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.006	Heinzmann A 2000	10699178	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3712	1	2000												
128480		asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Kauppi P 2001	11543630	503P and 576R	503P and 576R		Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Finnish		KCB	3566	Hs.513457			Genomics. 2001 Sep;77(2-Jan):35-42			147781	3704	1	2001												
128482	Y	allele frequency/ normal	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0002	Hackstein H 2001	11491529	-3223T variant	-3223T variant with lowered sIL4R levels	5`promoter	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			Immunogenetics. 2001 May-Jun;53(4):264-9	A novel polymorphism in the 5' promoter region of the human interleukin-4 receptor alpha-chain gene is associated with decreased soluble interleukin-4 receptor protein levels.		147781	3706	1	2001	We conclude that  it may be of importance for the genetic regulation of the IL-4 signalling pathway.	Cohort 230 healthy, voluntary adult blood donors										
128483		Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Takabayashi A 2000	10810222				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Experimental and clinical immunogenetics. 2000 ;17(2):63-70			147781	3707	1	2000												
128484	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	P=<0.0001	Mitsuyasu H 1999	9620765	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Nature genetics. 1998 Jun;19(2):119-20			147781	3708	1	1999												
128476	N	Atopy/ Asthma	IMMUNE	IMM	Asthma|Rhinitis|Conjunctivitis, Allergic|Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600	n	Noguchi E 1999	10051727	IL- 4 Receptor R576			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	KCB	3566	Hs.513457			Clinical and experimental allergy. 1999 Feb;29(2):228-33			147781	3700	1	1999	 Our findings indicate that the IL-4 receptor alpha gene does not exert a substantial influence on the inheritance of atopy or asthma in this Japanese population.											
128477	Y	Total serum IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0.02	Howard TD 2001	11709756	E375A			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Netherlands	KGB	3566	Hs.513457			American journal of human genetics. 2002 Jan;70(1):230-6			147781	3701	1	2001												
128478	N	Asthma. atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	n	Heinzmann A 2000	10699178	Arg551Gln			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3702	1	2000												
128471	N	Atopic dermatitis	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	Ser436Leu			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3695	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128472		Total serum IgE	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Kauppi P 2001	11543630				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Finnish		KGB	3566	Hs.513457			Genomics. 2001 Sep;77(2-Jan):35-42			147781	3696	1	2001												
128473		Normal Outbred Allele Freq.	OTHER	OTH	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Caggana M 1999	11258628				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	U.S. Caucasian. African American		KGB	3566	Hs.513457			Genetics in medicine. 1999 Sep-Oct;1(6):267-71			147781	3697	1	1999	 Enhanced IL-4R signaling is associated with increased IgE production (atopy). Therefore, our data suggest that the African American population may be at increased risk for diseases, including asthma, which are associated with atopy. These data also emphasize the importance of determining the frequencies of single nucleotide polymorphisms in different populations before drawing conclusions from allele association studies, since the background allele frequencies may be disparate between different populations.											
128466		Atopic dermatitis	OTHER	OTH	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600		Oiso N 2000	10809862	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Japan	KGB	3566	Hs.513457			The British journal of dermatology. 2000 May;142(5):1003-6			147781	3690	1	2000												
128467	N	Asthma	IMMUNE	IMM	Asthma|Rhinitis|Conjunctivitis, Allergic|Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600	n	Noguchi E 1999	10051727	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	KCB	3566	Hs.513457			Clinical and experimental allergy. 1999 Feb;29(2):228-33			147781	3691	1	1999	 Our findings indicate that the IL-4 receptor alpha gene does not exert a substantial influence on the inheritance of atopy or asthma in this Japanese population.											
128461		Asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Takabayashi A 2000	10810222	Ile150Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Experimental and clinical immunogenetics. 2000 ;17(2):63-70			147781	3685	1	2000												
128462	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Ober C 2000	11022011	Glu375Ala			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Hutterite	South Dakota	KCB	3566	Hs.513457			American journal of human genetics. 2000 Nov;67(5):1154-62			147781	3686	1	2000												
128463	Y	Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=<0.05	Ober C 2000	10677312	Cys406Arg			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Hutterite	United States	KGB	3566	Hs.513457			American journal of human genetics. 2000 Feb;66(2):517-26			147781	3687	1	2000												
128464	N	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Forrest 1999	10550754	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			The Journal of allergy and clinical immunology. 1999 Nov;104(5):1066-70			147781	3688	1	1999	 We have identified a clinically homogeneous cohort of patients with atopic eczema to identify genetic factors predisposing to the development of atopy. We postulate that there are certain loci that predispose to atopy in general and other loci that determine which of the atopic phenotypes is expressed.											
133672		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Okura T et al. 1993	7903395				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			KGB	5972	Hs.3210			Journal of human hypertension. 1993 Oct;7(5):457-61	Restriction fragment length polymorphisms of the human renin gene: association study with a family history of essential hypertension.		179820	5268	1	1993												
128456	N	Asthma. atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	n	Heinzmann A 2000	10699178	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German		KCB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3680	1	2000												
115838	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	5	5q31-q32	ADRB2	148186348	148188381		Niino M et al. 2002	12474986				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Japan	KGB	154	Hs.591251			Multiple sclerosis (Houndmills, Basingstoke, England). 2002 Dec;8(6):475-8	An examination of the association between beta2 adrenergic receptor polymorphisms and multiple sclerosis.		109690	230	1	2002	Together, our findings suggest that the presence of beta2AR gene polymorphisms may be inconclusive in the susceptibility to MS or in the clinical characteristics of Japanese patients with MS and, therefore, need further studies.	Case Japanese multiple sclerosis patients;Control:controls										
128450	Y	Atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.006	Heinzmann A 2000	10699178	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German		KGB	3566	Hs.513457			Human molecular genetics. 2000 Mar;9(4):549-59			147781	3674	1	2000												
122138	Y	COPD severity	OTHER	OTH	Lung Neoplasms|Lung Diseases, Obstructive	1	1q42.1	EPHX1	224064453	224099884	P=<0.05	Yoshikawa M 2000	10601573	Exon 3 Tyr113His			epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Japan	KGB	2052	Hs.89649			International journal of molecular medicine. 2000 Jan;5(1):49-53			132810	2371	1	2000												
134087		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Osteoarthritis	14	14q32.1	SERPINA1	93914450	93926782		Kahl LE et al. 1989	2786461				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Disease markers. 1989 Apr-Jun;7(2):71-8	Alpha-1-antitrypsin (PI) and vitamin-D binding globulin (GC) phenotypes in rheumatoid arthritis: absence of an association.		107400	4974	1	1989												
128445	Y	Allergic asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	0.0005	A-M Hytonen et al., CEA, 2004, 34: 1570-1575	15479272	Association with disease was found for 3-marker haplotype (C-3223T, Q551R, I50V)		other	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Swedish Caucasians		L Padyukov	3566	Hs.513457	adult asthma		Clinical and experimental allergy. 2004 Oct;34(10)	Haplotypes of the interleukin-4 receptor alpha chain gene associate with susceptibility to and severity of atopic asthma		147781	3669	1	2004	 Our data suggest that asthmatic patients with low levels of sIL-4 receptor may represent a genetically distinct subgroup of atopic asthma. TVR haplotype analyses confirm the importance of IL4R as a candidate gene for susceptibility to asthma. This finding may have implications for the understanding of the pathogenesis of asthma and possibly for the development of more specific therapies.	Case:170; Control:350										
128446	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	P=<0.0001	Mitsuyasu H 1999	9620765	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese		KCB	3566	Hs.513457			Nature genetics. 1998 Jun;19(2):119-20			147781	3670	1	1999												
128449	Y	Hyper-IgE syndrome. severe eczema. atopy	IMMUNE	IMM	Dermatitis, Atopic|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.0018	Hershey GKK 1997	9392697	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	U.S.		KGB	3566	Hs.513457			The New England journal of medicine. 1997 Dec;337(24):1720-5			147781	3673	1	1997	 The R576 allele of interleukin-4 receptor alpha is strongly associated with atopy. This mutation may predispose persons to allergic diseases by altering the signaling function of the receptor.											
128442		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Cinek, O.  et al. 2004	15170937				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Czech	Czech Republic	CDC GDPinfo	3565	Hs.73917			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147780	28064	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128443		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Saito, T.  et al. 2004	15063762				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	CDC GDPinfo	3565	Hs.73917			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		147780	28547	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
128444		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	5	5q31.1	IL4	132037271	132046267		Zee, R. Y.  et al. 2002	12082592				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147780	28618	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128438		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Trajkov, D.  et al. 2005	16100774				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147780	27944	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128440		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	5	5q31.1	IL4	132037271	132046267		Helbig, K. J.  et al. 2003	12595908				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147780	28062	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
128441		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	5	5q31.1	IL4	132037271	132046267		Wang, C.  et al. 2004	15057902				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		147780	28063	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
128434		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	5	5q31.1	IL4	132037271	132046267		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147780	27762	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
128435		Chagas Disease	INFECTION	INF	Chagas Disease	5	5q31.1	IL4	132037271	132046267		Moreno, M.  et al. 2004	15191519				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		147780	27763	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
128436		graft versus host disease	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Daly, A. K.  et al. 2002	12083951				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147780	27942	2	2002	Review article											
128437		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		5	5q31.1	IL4	132037271	132046267		Trejaut, J. A.  et al. 2004	15361128				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147780	27943	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
128431	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	5	5q31.1	IL4	132037271	132046267		Vasilescu, A.  et al. 2003	12944981				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		147780	27509	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
128432		hepatitis C; longevity	INFECTION	INF		5	5q31.1	IL4	132037271	132046267		Pyo, C. W.  et al. 2003	14522096				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Korean		CDC GDPinfo	3565	Hs.73917			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147780	27510	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
128433		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Warle, M. C.  et al. 2002	12089714				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		147780	27761	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
128428		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Inoue, T.  et al. 2002	12020266				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		CDC GDPinfo	3565	Hs.73917			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		147780	27506	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
128429		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	5	5q31.1	IL4	132037271	132046267		Marshall, S. E.  et al. 2001	11233912				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147780	27507	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
128430		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Donn, R. P.  et al. 2001	11315919				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147780	27508	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
128425		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	5	5q31.1	IL4	132037271	132046267		Lan, Q.  et al. 2005	16230423				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		147780	27036	2	2005												
128426		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Nguyen, D. P.  et al. 2004	15292002				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		147780	27037	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
128427		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Howell, W. M.  et al. 2003	14675394				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		147780	27038	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
128421		hepatitis C; Schistosoma mansoni infection	INFECTION	INF	Hepatitis C, Chronic|Schistosomiasis mansoni	5	5q31.1	IL4	132037271	132046267		El-Kady, I. M.  et al. 2005	15644127				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Scandinavian journal of immunology. 2005 Jan;61(1):87-91	Interleukin (IL)-4, IL-10, IL-18 and IFN-gamma cytokines pattern in patients with combined hepatitis C virus and Schistosoma mansoni infections		147780	26292	2	2005	In conclusion, schistosomiasis may downregulate the stimulatory effect of HCV on Th1 cytokines and this may lead to the chronicity of HCV infection in coinfected patients.	Case:10/15/10 patients infected with chronic HCV (n=20), patients infected with schisotosomiasis alone (n=15), and patients with chronic HCV and schistosomiasis:(n=10);Control:15 healthy control individuals matched for age and sex										
128422		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A|Autoimmune Diseases|Inversion, Chromosome	5	5q31.1	IL4	132037271	132046267			16380445				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Blood. 2005	Polymorphisms in the IL-10 but not in the IL-1{beta} and IL-4 genes are associated with inhibitor development in patients with hemophilia A		147780	26293	2	2005												
128423	N	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Loke, H.  et al. 2002	12363051				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Vietnamese	Vietnam	CDC GDPinfo	3565	Hs.73917			The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variationin the vitamin d receptor and Fc gamma receptor IIa genes.		147780	26294	2	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
128418		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Konenkov, V. I.  et al. 2001	12687213				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		147780	26289	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
128419		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	5	5q31.1	IL4	132037271	132046267		Rosner, S. A.  et al. 2005	16184405				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		147780	26290	2	2005			smoking (tobacco)									
128420		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	5	5q31.1	IL4	132037271	132046267		Hattori, H.  et al. 2002	12420205				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		CDC GDPinfo	3565	Hs.73917			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147780	26291	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
128414		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	5	5q31.1	IL4	132037271	132046267		Ohashi, J.  et al. 2003	14551608				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Thai	Thailand	CDC GDPinfo	3565	Hs.73917			Genes and immunity. 2003 Oct;4(7):528-31	A single-nucleotide substitution from C to T at position -1055 in the IL-13 promoter is associated with protection from severe malaria in Thailand		147780	25025	2	2003	Thus, IL-13 -1055T may show resistance to severe malaria through the alteration of IL-13 production.	Cohort 361 adult malaria patients Thailand 										
128415	Y	interstitial cystitis	INFECTION	INF	Cystitis, Interstitial	5	5q31.1	IL4	132037271	132046267		Sugaya, K.  et al. 2002	12442007				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of urology. 2002 Dec;168(6):2668-71	Molecular analysis of adrenergic receptor genes and interleukin-4/interleukin-4 receptor genes in patients with interstitial cystitis.		147780	26286	2	2002	 Variants of the ADRB2, ADRA1d and IL-4 genes may be related to a predisposition to interstitial cystitis.	Control:228:controls;Case:55 patients with interstitial cystitis										
128416		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Nanavaty, U.  et al. 2001	11202474				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The American journal of the medical sciences. 2001 Jan;321(1):6-Nov	Polymorphisms in candidate asthma genes.		147780	26287	2	2001	Review article											
128417	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Wang, C.  et al. 2004	15021309				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		147780	26288	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
128410		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Wu, S. F.  et al. 2005	15900570				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Taiwan	CDC GDPinfo	3565	Hs.73917			Journal of clinical laboratory analysis. 2005 ;19(3):99-102	Association of IL-1Ra gene polymorphism, but no association of IL-1beta and IL-4 gene polymorphisms, with Kawasaki disease.		147780	25021	2	2005	The genotype I/II for IL1-Ra and the frequency of allele II for IL1-Ra are associated with a higher susceptibility to KD, and thus may be useful markers for predicting the development of KD.	Control:103 normal controls;Case:107 Kawasaki disease patients										
128411		asthma; eczema; allergic disease	IMMUNE	IMM	Parasitic Diseases|Autoimmune Diseases	5	5q31.1	IL4	132037271	132046267		Kurzawski, M.  et al. 2005	16164695				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Polish	Poland	CDC GDPinfo	3565	Hs.73917			International journal of immunogenetics. 2005 Oct;32(5):285-91	Frequencies of the common promoter polymorphisms in cytokine genes in a Polish population.		147780	25022	2	2005												
128412		HIV	INFECTION	INF		5	5q31.1	IL4	132037271	132046267		Smolnikova, M. V.  et al. 2002	12687247				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Russian journal of immunology. 2002 Dec;7(4):349-56	Association of IL2, TNFA, IL4 and IL10 Promoter Gene Polymorphisms with the Rate of Progression of the HIV Infection.		147780	25023	2	2002	The association of T/G IL2, G/A TNFA, T/T IL4, A/A IL10 allelic variants of the immunomodulator genes with a fast rate of HIV infection has been established.	Case:127 HIV-infected patients;Control:52 healthy individuals										
128407		small for gestational age	UNKNOWN	UNK	Premature Birth	5	5q31.1	IL4	132037271	132046267		Engel, S. A.  et al. 2005	15951665				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		North Carolina	CDC GDPinfo	3565	Hs.73917			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):478-86	Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.		147780	25018	2	2005	 Variants related to decreased anti-inflammatory cytokine production may lower risk of SGA. Furthermore, the same mechanism that protects against SGA might increase risk of spontaneous preterm birth.											
128408		celiac disease	IMMUNE	IMM	Celiac Disease	5	5q31.1	IL4	132037271	132046267		Ryan, A. W.  et al. 2005	15713213				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Ireland	CDC GDPinfo	3565	Hs.73917			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		147780	25019	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
128409		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Peng, Z.  et al. 2002	12133437				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese		CDC GDPinfo	3565	Hs.73917			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Apr;41(4):248-51	[Interleukin (IL)-1beta, IL-1 receptor antagonist and IL-4 gene polymorphisms in ulcerative colitis in the Chinese]		147780	25020	2	2002	 There is correlation between the Chinese UC patients and the gene polymorphisms of intron 3 of IL-4. The gene frequency of allele RP1 in UC patients are lower, but the gene frequency of allele RP2 is significantly higher. The differences on gene frequencies of IL-4 between the UC patients and HS are mainly found in the ANCA positive UC patients. The Chinese UC patients are not associated with IL-1beta and IL-1RA gene polymorphisms.	Control:114 healthy subjects;Case:81 ulcerative colitis patients										
128402		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Hegab, A. E.  et al. 2004	15596681				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Egypt|Japan	CDC GDPinfo	3565	Hs.73917			Chest. 2004 Dec;126(6):1832-9	Polymorphisms of IL4, IL13, and ADRB2 genes in COPD.		147780	25013	2	2004	 The ADRB2 + 79 C/G polymorphism and the haplotypes shown in this study may be involved in the pathogenesis of COPD.	Control:61/72 Japanese (n=61) AND Egyptian (n=72) controls;Case:88/106 Japanese (n=88) AND Egyptian (n=106) patients with chronic obstructive pulmonary disease										
128404	N	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Hypersensitivity, Immediate	5	5q31.1	IL4	132037271	132046267		Tenbrock, K.  et al. 2002	11980568				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Clin Sci (Lond).. 2002 May;102(5):507-12	Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome.		147780	25015	2	2002	We conclude that  polymorphisms in the IL4 receptor, the high-affinity IgE receptor and IL13 do not seem to predict the clinical course of NS, despite the fact that serum IgE elevations are more frequent in patients with NS than in normal control subjects. The investigated polymorphisms may contribute to the IgE switch in patients with NS.	Control healthy controls;Case:78 atopic children with nephrotic syndrome (n=33) and nephrotic syndrome patients without atopy (n=45)										
128405		atopy	IMMUNE	IMM	Drug Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Qiao, H. L.  et al. 2005	15969687				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Allergy. 2005 Aug;60(8):1053-9	Relationships between specific serum IgE, cytokines and polymorphisms in the IL-4, IL-4Ralpha in patients with penicillins allergy.		147780	25016	2	2005	 These data suggest that IL-4, IL-13 and IFN-gamma play an important roles in penicillins allergy. The IL-4RalphaQ576R polymorphism may involve in the development of penicillins allergy, and through modulating specific serum IgE levels.		penicillin									
128398		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	5	5q31.1	IL4	132037271	132046267		Amirzargar, A. A.  et al. 2005	15932621				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Iranian		CDC GDPinfo	3565	Hs.73917			International journal of immunogenetics. 2005 Jun;32(3):167-71	Cytokine gene polymorphism in Iranian patients with chronic myelogenous leukaemia.		147780	25009	2	2005	The results suggest that production of TGF-beta in CML patients is higher and production of IL-4 and IL-10 is lower than in normal subjects.	Case:30 Iranian patients with chronic myelogenous leukemia;Control:40 healthy subjects										
128399		psoriasis	IMMUNE	IMM	Psoriasis	5	5q31.1	IL4	132037271	132046267		Craven, N. M.  et al. 2001	11298547				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The British journal of dermatology. 2001 Apr;144(4):849-53	Cytokine gene polymorphisms in psoriasis.		147780	25010	2	2001	 Psoriasis is not determined by a genotype consistent with high production of Th1 cytokines or low production of Th2 cytokines. Thus, the Th1 cytokine profile found in psoriatic plaques is most likely a consequence of local factors.	Control data on file;Case:84 patients with psoriasis										
128400		hepatitis B	INFECTION	INF	Pregnancy Complications, Infectious|Hepatitis B|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Zhu, Q. R.  et al. 2005	15941525				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):236-9	[Relationship between cytokine gene polymorphism and susceptibility to hepatitis B virus intrauterine infection]		147780	25011	2	2005	 This study suggested the possibility that TNF-alpha-238 A allele and IFN-gamma + 874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4-590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10-1082 G allele seemed to be associated with preventive efficacy to HBV intrauterine infection.											
128395	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Amoli, M. M.  et al. 2004	15570643				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of rheumatology. 2004 Dec;31(12):2413-7	Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis.		147780	25006	2	2004	 Our results suggest an association with IL-4 gene polymorphism that is dependent on HLA-DRB1 genotype in GCA susceptible individuals. These data indicate an interaction between HLA-DRB1 and IL-4 that contributes to pronounced disease susceptibility.	Control:102 ethnically matched controls;Case:82 patients with biopsy proven giant cell arteritis Lugo region, Northwest Spain										
128396	N	renal transplantation, protein secretion in	UNKNOWN	UNK	Acute Disease|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Cartwright, N. H.  et al. 2001	11316066				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Transplant immunology. 2001 Feb;8(4):237-44	A study of cytokine gene polymorphisms and protein secretion in renal transplantation.		147780	25007	2	2001	In addition, no correlation was demonstrated between cytokine gene polymorphisms and renal allograft rejection.	Control:30 normal controls;Case:49 renal transplant patient-donor pairs										
128397		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Kamali-Sarvestani, E.  et al. 2005	15811521				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Iranian	Iran	CDC GDPinfo	3565	Hs.73917			Journal of reproductive immunology. 2005 Apr;65(2):171-8	Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women.		147780	25008	2	2005	It may be concluded that IL-10 polymorphism at position -592 could be a genetic factor for RPL.	Case:139 women with recurrent pregnancy loss:Iran;Control:143 contol women										
128390		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Yang, Y.  et al. 2005	16195814				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese		CDC GDPinfo	3565	Hs.73917			Journal of human genetics. 2005 ;50(11):574-82	Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves' disease.		147780	22580	2	2005												
128392		asthma; eczema; allergic disease	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Scarel-Caminaga, R. M.  et al. 2002	12121273				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Brazilian		CDC GDPinfo	3565	Hs.73917			European journal of immunogenetics. 2002 Aug;29(4):293-6	Frequencies of the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 gene polymorphisms in a population from south-eastern Brazil.		147780	22582	2	2002	The allele frequency of the IL-2 gene polymorphism obtained in our study was similar to that found in UK Caucasoid groups. The T allele frequency of the IL-4 gene polymorphism observed in the Caucasian Brazilian group was similar to that found in UK and Australian populations, while the frequency observed for the Black Brazilian group was similar to that found in Japanese and Kuwaiti Arab populations. The results for the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 polymorphisms are consistent with the high contribution of European lineages to the population in south-eastern Brazil.	Cohort 114 unrelated individuals from Sao Paulo State south-eastern Brazil 										
128393		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q31.1	IL4	132037271	132046267		Schwarz, M. J.  et al. 2005	16091861				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			European archives of psychiatry and clinical neuroscience. 2005	IL-2 and IL-4 polymorphisms as candidate genes in schizophrenia.		147780	22583	2	2005												
128386		atopy	IMMUNE	IMM	Prenatal Exposure Delayed Effects	5	5q31.1	IL4	132037271	132046267		Liu, X.  et al. 2003	12897746				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Germany	CDC GDPinfo	3565	Hs.73917			The Journal of allergy and clinical immunology. 2003 Aug;112(2):382-8	Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13, and IL4RA in German children: The GermanMulticenter Atopy Study		147780	22576	2	2003	 These findings suggest that variants C-1055T and Arg130Gln of the IL13 gene might play an important role on total serum IgE production in this study population.	Cohort 823 unrelated German children from a large infant cohort Germany 										
128388		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1	IL4	132037271	132046267		Maier, L. M.  et al. 2005	15660293				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			American journal of human genetics. 2005 Mar;76(3):517-21	No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.		147780	22578	2	2005	We did not find any single-locus associations with T1D and did not obtain evidence of gene-gene interaction. Additional support from independent samples will be even more important in the study of gene-gene interactions and other subgroup analyses.	Control:controls;Case type 1 diabetes cases										
128389		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267			16387595				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese		CDC GDPinfo	3565	Hs.73917			The Journal of allergy and clinical immunology. 2006 Jan;117(1):127-33	Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children		147780	22579	2	2006	 Our data suggest significant interactions between IL13 and IL4RA for asthma and IL13 and TARC for increased plasma total IgE concentrations in Chinese children.											
128382	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Zhang, J.  et al. 2002	11953141				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese		CDC GDPinfo	3565	Hs.73917			Zhonghua yi xue za zhi. 2002 Jan;82(2):114-8	[Correlation between polymorphism of IL-4 and IL-10 gene promoter and childhood asthma and their impact upon cytokine expression]		147780	22572	2	2002	 (1) There is no significant correlation between the polymorphism sites in IL-4 and IL-10 gene promoters and the susceptibility to asthma among Chinese. (2) The polymorphism of IL-10 gene promoter may be an important candidate gene for severity of asthma. The allele -819T plays an important role in increase of the total serum IgE by reducing the upregulation of IL-10 gene expression.	Cohort 168 unrelated Chinese children with asthma 										
128383		penicillins allergy	IMMUNE	IMM	Drug Hypersensitivity	5	5q31.1	IL4	132037271	132046267			16315031				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			European journal of clinical pharmacology. 2005 Dec;61(11):803-9	Polymorphisms of IL-13 and IL-4-IL-13-SNPs in patients with penicillins allergy		147780	22573	2	2005	 These data suggests that IL-4-IL-13-SNP genes between IL-4 and IL-13 play a role in regulation of specific IgE levels in patients with penicillins allergy.											
128384		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	5	5q31.1	IL4	132037271	132046267			16388492				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of infectious diseases. 2006 Feb;193(3):438-41	Association between Severe Respiratory Syncytial Virus Infection and IL13/IL4 Haplotypes		147780	22574	2	2006												
128379		asthma; allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Korzycka-Zaborowska, B.  et al. 2004	15087090				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Polish	Poland	CDC GDPinfo	3565	Hs.73917			Allergologia et immunopathologia. 2004 Mar-Apr;32(2):53-8	Genetic variants of FcepsilonRIbeta and Il-4 and atopy in a Polish population.		147780	22569	2	2004	 The results suggest that FcRIint2 polymorphism is related to atopy and may influence its development.	Control:87 non-atopic, non-asthmatic controls;Case:98 unrelated patients with asthma and/or allergic:rhinitis:Lodz, Poland										
128380	Y	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic|Disease Progression	5	5q31.1	IL4	132037271	132046267		Masutani, K.  et al. 2003	12552499				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese	Japan	CDC GDPinfo	3565	Hs.73917			American journal of kidney diseases. 2003 Feb;41(2):371-9	Impact of interferon-gamma and interleukin-4 gene polymorphisms on development and progression of IgA nephropathy in Japanese patients		147780	22570	2	2003	 Our results suggest that IFN-gamma and IL-4 gene polymorphisms could influence disease susceptibility and disease progression in IgA nephropathy in Japanese patients. Am J Kidney Dis 41:371-379.	Control:61 healthy controls;Case:96 Japanese patients with biopsy confirmed IgA:nephropathy										
128381		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Kitawaki, J.  et al. 2004	15166131				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese	Japan	CDC GDPinfo	3565	Hs.73917			Human reproduction (Oxford, England). 2004 Aug;19(8):1765-9	Interferon-{gamma} gene dinucleotide (CA) repeat and interleukin-4 promoter region (-590C/T) polymorphisms in Japanese patients with endometriosis		147780	22571	2	2004	 The results suggest that the IFNG CA-repeat polymorphism is associated with susceptibility to endometriosis in a Japanese population.	Control:176 healthy fertile women;Case:185 patients with endometriosis										
128375		dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267		Tanaka, K.  et al. 2002	11922633				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	CDC GDPinfo	3565	Hs.73917			Biochemical and biophysical research communications. 2002 Apr;292(3):776-80	Genetic variants of the receptors for thromboxane A2 and IL-4 in atopic dermatitis.		147780	17751	2	2002	These results suggest TXA2 receptor polymorphism strongly interacts with IL-4Ralpha polymorphism as a major determinant of high serum immunoglobulin E levels in AD.	Cohort 789 individuals in a Japanese population 										
128377		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Winterton, D. L.  et al. 2001	11258696				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Annals of allergy, asthma & immunology. 2001 Feb;86(2):232-8	Genetic polymorphisms as biomarkers of sensitivity to inhaled sulfur dioxide in subjects with asthma.		147780	22567	2	2001	 The wild-type allele of the TNF-alpha promoter polymorphism may be associated with mechanisms of asthmatic sensitivity to inhaled SO2.	Cohort 62 volunteers with physician-diagnosed asthma requiring regular asthma medication. 	sulfur dioxide									
128378		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Cui, T.  et al. 2003	12973929				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese		CDC GDPinfo	3565	Hs.73917			Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(2):134-7	Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma.		147780	22568	2	2003	These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China.	Case asthmatic patients:China;Control:controls										
128372		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Chronic Disease|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Choi, E. H.  et al. 2003	12660931			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of infectious diseases. 2003 Apr;187(7):1153-6	Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes.		147780	17745	2	2003	Genetic variants of IL4 could contribute to the development of CDC in patients with acute leukemia.	Case:40 patients with both leukemia and chronic disseminated candidiasis;Control:50 patients with leukemia only										
128373	Y	asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Kabesch, M.  et al. 2003	14610476				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of allergy and clinical immunology. 2003 Nov;112(5):893-8	A complete screening of the IL4 gene: novelpolymorphisms and their association with asthma and IgE in childhood.		147780	17747	2	2003	 These results indicate a possible involvement of SNPs in the IL4 gene in the development of asthma and the regulation of total serum IgE.	Cohort 1,120 German schoolchildren 										
128374		asthma	IMMUNE	IMM	Asthma|Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Basehore, M. J.  et al. 2004	15241348				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of allergy and clinical immunology. 2004 Jul;114(1):80-7	A comprehensive evaluation of IL4 variants in ethnically diverse populations: association oftotal serum IgE levels and asthma in white subjects.		147780	17748	2	2004	 After a comprehensive genetic evaluation, our data suggest that the 3017 G/T variant or the haplotype it identifies influences IL4's ability to modulate total serum IgE levels. Inconsistencies with previously reported IL4 associations might be due to population differences in allele frequencies, the extent of linkage disequilibrium with this SNP or haplotype, or both.	Cohort white, African American, and Hispanic asthmatic populations 										
128368	Y	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	5	5q31.1	IL4	132037271	132046267		Hoebee, B.  et al. 2003	12508140				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			The Journal of infectious diseases. 2003 Jan;187(1):11-Feb	Association of severe respiratory syncytial virus bronchiolitis with interleukin-4 and interleukin-4 receptor alpha polymorphisms.		147780	11837	2	2003	These results indicate that gain-of-function variants of T helper type 2 cytokine genes may play a role in increasing the severity of RSV disease, which appears more pronounced after the first half-year of life.	Case hospitalized infants with respiratory syncytial virus bronchiolitis;Control random population sample										
128369	Y	minimal change nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Nephrotic Syndrome|Hypersensitivity|Disease Progression|Genetic Predisposition to Disease|Recurrence	5	5q31.1	IL4	132037271	132046267		Kobayashi, Y.  et al. 2003	12900808				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese	Japan	CDC GDPinfo	3565	Hs.73917			American journal of kidney diseases. 2003 Aug;42(2):271-6	Polymorphisms of interleukin-4--related genes in Japanese children with minimal change nephrotic syndrome.		147780	14098	2	2003	 These results suggest that genetic variations in the IL-4 and STAT6 genes may be associated with predisposition to MCNS, partially the clinical course of MCNS.	Case:58 Japanese children with minimal change nephrotic:syndrome;Control:63 healthy controls with neither allergic nor renal:disease										
128370	Y	IL-4	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Nakashima, H.  et al. 2002	11960309				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		CDC GDPinfo	3565	Hs.73917			Genes and immunity. 2002 Apr;3(2):107-9	Association between IL-4 genotype and IL-4 production in the Japanese population.		147780	17743	2	2002	These results make it likely that IL-4 genotype could influence the type of immune response.	Cohort not specified in abstract 										
128363	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	5	5q31.1	IL4	132037271	132046267		Kwa, D.  et al. 2003	12700447			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			AIDS (London, England). 2003 May;17(7):981-5	Association between an interleukin-4 promoter polymorphism and the acquisition of CXCR4 using HIV-1 variants.		147780	11829	2	2003	 In the Amsterdam Cohort of homosexual men with HIV infection, the IL-4 -589T promoter polymorphism was associated with a delayed acquisition of X4 variants but did not affect overall disease progression.	Cohort 342 HIV-1-infected homosexual men who participated in the Amsterdam Cohort study 										
128364	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Cruvinel Pontes, C.  et al. 2004	15001290				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Cameroon|Angola|Brazil	CDC GDPinfo	3565	Hs.73917			Journal of dentistry. 2004 Mar;32(3):241-6	'Interleukin-4 gene polymorphism and its relation to periodontal disease in a Brazilian population of African heritage'.		147780	11830	2	2004	 We concluded that the studied IL-4 polymorphisms were not related to periodontal disease susceptibility in this African-American Brazilian population.	Case African heritage Brazilian patients with:periodontitis;Control:controls										
128366		nephrosis	RENAL	REN		5	5q31.1	IL4	132037271	132046267		Liu, H. M.  et al. 2005	16053729				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Zhonghua er ke za zhi Chinese journal of pediatrics. 2005 Jun;43(6):431-3	[Significance of polymorphisms in variable number of tandem repeat region of interleukin-4 gene in recurrence of childhood steroid sensitive nephrotic syndrome]		147780	11832	2	2005	 The results suggest that IL-4 VNTR B1B1 genotype might be a predictor for the frequent relapse in childhood SSNS in Chinese.											
128359		malaria, plasmodium falciparum	INFECTION	INF	Malaria|Disease Susceptibility|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Luoni, G.  et al. 2001	11704810				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Africa, Western	CDC GDPinfo	3565	Hs.73917			Genes and immunity. 2001 Nov;2(7):411-4	Antimalarial antibody levels and IL4 polymorphism in the Fulani of West Africa.		147780	11825	2	2001	These data highlight the possibility of combining inter- and intra-ethnic comparisons to characterize critical determinants of malarial immunity in a natural setting.	Cohort Fulani ethnic group sample 										
128361	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Mujica-Lopez, K. I.  et al. 2002	12358844				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Mexico	CDC GDPinfo	3565	Hs.73917			European journal of immunogenetics. 2002 Oct;29(5):375-8	Association analysis of polymorphisms in the interleukin-4 receptor (alpha) gene with atopic asthma in patients from western Mexico.		147780	11827	2	2002	We found that the ser761pro polymorphism was monomorphic for ser761, while there was no association between any of the other polymorphisms and the three phenotypes analysed.	Case:31 unrelated children with atopic asthma western Mexico;Control:32 unrelated control children without atopy and atopic:asthma										
128362		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	5	5q31.1	IL4	132037271	132046267		Kantarci, O. H.  et al. 2003	12667657				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Minnesota	CDC GDPinfo	3565	Hs.73917			Journal of neuroimmunology. 2003 Apr;137(2-Jan):134-9	A population-based study of IL4 polymorphisms in multiple sclerosis.		147780	11828	2	2003	We could not confirm the previously reported association between carriage of I3(709)*allele-2 and older age of onset. However, we found a trend for association between the homozygous state for this allele and older age of onset.	Case:122 patients with multiple sclerosis;Control:244:controls										
128355	N	acute renal allograft rejection.	IMMUNE	IMM	Acute Disease	5	5q31.1	IL4	132037271	132046267		Lee H 2004	14693849	-590			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Journal of clinical pathology. 2004 Jan;57(1):101-3	Influence of recipient and donor IL-1alpha, IL-4, and TNFalpha genotypes on the incidence of acute renal allograft rejection.		147780	3666	1	2004	 This finding argues for prospective TNFA genotyping of renal donors, with avoidance of allocation of kidneys from donors positive for the TNFA-A allele to HLA-DR mismatched recipients.											
128357	Y	Increased IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=<0.05	Suzuki I 2000	11122213	C-33T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Clinical and experimental allergy. 2000 Dec;30(12):1746-9	Association between a C+33T polymorphism in the IL-4 promoter region and total serum IgE levels.		147780	3668	1	2000	The data suggest that IL-4 promoter C+33T polymorphism may be one of the genetic polymorphisms that explain genetic linkage or association between elevated total serum IgE levels and markers on chromosome 5q.	Case:120:asthmatics:Japanese;Control:120 healthy controls:Japanese										
128358	Y	asthma; IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Suzuki, I.  et al. 2000	11122213			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Clinical and experimental allergy. 2000 Dec;30(12):1746-9	Association between a C+33T polymorphism in the IL-4 promoter region and total serum IgE levels.		147780	11824	2	2000	The data suggest that IL-4 promoter C+33T polymorphism may be one of the genetic polymorphisms that explain genetic linkage or association between elevated total serum IgE levels and markers on chromosome 5q.	Case:120:asthmatics:Japanese;Control:120 healthy controls:Japanese										
128351		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Wu MC 2003	12587822				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese	Taiwan	Y Wang	3565	Hs.73917			Lupus. 2003 ;12(1):21-5	Polymorphisms of the interleukin-4 gene in chinese patients with systemic lupus erythematosus in Taiwan.		147780	3662	1	2003												
128352	N	noncardia gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Zambon CF 2004	14753224	?590 C/T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Gastroenterology. 2004 Jan;126(1):382-4	Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms.		147780	3663	1	2004												
128353	Y	spontaneous preterm birth	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	5	5q31.1	IL4	132037271	132046267	<.05	Kalish RB 2004	15042002	-590		5' promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917	multifetal gestations		American journal of obstetrics and gynecology. 2004 Mar;190(3):702-6	Interleukin-4 and -10 gene polymorphisms and spontaneous preterm birth in multifetal gestations.		147780	3664	1	2004	 Maternal and fetal carriage of the interleukin-4 T allele is associated with an increased risk of spontaneous preterm birth in multifetal gestations.	Case:73										
128354		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Diabetes Mellitus, Type 1	5	5q31.1	IL4	132037271	132046267		Kanemitsu S 1999	10366128				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			Y Wang	3565	Hs.73917			Arthritis and rheumatism. 1999 Jun;42(6):1298-300	Association of interleukin-4 receptor and interleukin-4 promoter gene polymorphisms with systemic lupus erythematosus.		147780	3665	1	1999												
128347	Y	asthma and IgE in childhood	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Kabesch M 2003	14610476				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			The Journal of allergy and clinical immunology. 2003 Nov;112(5):893-8	A complete screening of the IL4 gene: novel polymorphisms and their association with asthma and IgE in childhood.		147780	3658	1	2003	 These results indicate a possible involvement of SNPs in the IL4 gene in the development of asthma and the regulation of total serum IgE.	Cohort 1,120 German schoolchildren										
128348		necrotizing enterocolitis	OTHER	OTH	Enterocolitis, Necrotizing	5	5q31.1	IL4	132037271	132046267		Treszl A 2003	14523823				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Journal of pediatric surgery. 2003 Sep;38(9):1374-8	Lower prevalence of IL-4 receptor alpha-chain gene G variant in very-low-birth-weight infants with necrotizing enterocolitis.		147780	3659	1	2003	 Carrier state of IL-4ra mutant allele might be associated with lower risk of NEC in VLBW infants. This genetic variant is associated with enhanced IL-4 effect. IL-4 is a major regulator of Th1-Th2 shift. The authors hypothesize that infants carrying the IL-4ra mutant allele might have Th2 skewness that might defend against the development of NEC.											
128350		Atopy	IMMUNE	IMM	Prenatal Exposure Delayed Effects	5	5q31.1	IL4	132037271	132046267		Liu X 2003	12897746				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Germany	KGB	3565	Hs.73917			The Journal of allergy and clinical immunology. 2003 Aug;112(2):382-8	Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13~~~ and IL4RA in German children: the German Multicenter Atopy Study.		147780	3661	1	2003	 These findings suggest that variants C-1055T and Arg130Gln of the IL13 gene might play an important role on total serum IgE production in this study population.	Cohort 823 unrelated German children from a large infant cohort Germany										
128343	N	Asthma. atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL4	132037271	132046267	n	Heinzmann A 2000	10699178	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KCB	3565	Hs.73917			Human molecular genetics. 2000 Mar;9(4):549-59			147780	3654	1	2000												
128345	Y	Asthma severity	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.0001	Chouchane L 1999	10529588	GT repeat in Intron 2			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Tunisia	KCB	3565	Hs.73917			International archives of allergy and immunology. 1999 Sep;120(1):50-5			147780	3656	1	1999	 Tunisian persons carrying the IL-4 A1/A3 genotype may have an increased risk of severe asthma.											
128346	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Bugawan TL et al. 2003	12748907				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Filipinos	Philippines	Y Wang	3565	Hs.73917			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetesamong Filipinos		147780	3657	1	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
128337	N	Graves disease	IMMUNE	IMM	Graves Disease	5	5q31.1	IL4	132037271	132046267	n	Heward JM et al. 2001	11502824			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Great Britain	KGB	3565	Hs.73917			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3861-3	No association of an interleukin 4 gene promoter polymorphism with Graves' disease in the United Kingdom.		147780	3648	1	2001												
128338	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	5	5q31.1	IL4	132037271	132046267	n	Chou HT et al. 2003	12578333				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese	China|Taiwan	KGB	3565	Hs.73917			The Journal of heart valve disease. 2003 Jan;12(1):38-44	Lack of association of genetic polymorphisms in the interleukin-1beta interleukin-1 receptor antagonist interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese.		147780	3649	1	2003	 These findings suggest that the IL-1beta, IL-1Ra, IL-4 or IL-10 gene polymorphisms are not suitable genetic markers of MVP in Taiwan Chinese.											
128340	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Ober C 2000	11022011	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Hutterites	South Dakota	KCB	3565	Hs.73917			American journal of human genetics. 2000 Nov;67(5):1154-62			147780	3651	1	2000												
128341	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	5	5q31.1	IL4	132037271	132046267	P=0.01	Zhu S 2000	10806171	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Asia	KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			147780	3652	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
128333	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	5	5q31.1	IL4	132037271	132046267	0.001	Vandenbroeck K 1997	9184650	IL-4 B1 allele . late onset MS			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Journal of neuroimmunology. 1997 Jun;76(2-Jan):189-92			147780	3644	1	1997												
128334	Y	respiratory syncytial virus disease	INFECTION	INF	Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Choi EH et al. 2002	12402189				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Korean	Korea	KGB	3565	Hs.73917			The Journal of infectious diseases. 2002 Nov;186(9):1207-11	A common haplotype of interleukin-4 gene IL4 is associated with severe respiratory syncytial virus disease in Korean children.		147780	3645	1	2002	These results support the hypothesis that severe RSV disease might be related to increased Th2 response, which is perhaps mediated by overexpression of IL-4, and provide preliminary evidence for a genetic link between severe RSV disease and subsequent wheezing.	Case:105 children who were hospitalized with severe RSV:infection:Korea;Control:315 Korean control subjects										
128335	Y	IL-4 production	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Nakashima H et al. 2002	11960309				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		KGB	3565	Hs.73917			Genes and immunity. 2002 Apr;3(2):107-9	Association between IL-4 genotype and IL-4 production in the Japanese population.		147780	3646	1	2002	These results make it likely that IL-4 genotype could influence the type of immune response.	Cohort not specified in abstract										
128328	N	Specific IgE. Wheeze	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Respiratory Sounds	5	5q31.1	IL4	132037271	132046267	n	Walley AJ 1996	8863163	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Western Australia|Great Britain	KGB	3565	Hs.73917			Journal of medical genetics. 1996 Aug;33(8):689-92			147780	3639	1	1996												
128329	Y	Atopic asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.002	Noguchi E 2001	11704288	haplotypes			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		KCB	3565	Hs.73917			Human immunology. 2001 Nov;62(11):1251-7			147780	3640	1	2001												
128331	Y	Asthma. atopy	IMMUNE	IMM	Burkitt Lymphoma|Asthma|Hypersensitivity, Immediate	5	5q31.1	IL4	132037271	132046267	P=0.0028	Rosenwasser LJ1995	8590350	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KCB	3565	Hs.73917			Clinical and experimental allergy. 1995 Nov;25 Suppl 2:74-8; discussion 95-6			147780	3642	1	1995												
128332	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	0.005	Aithal GP 2001	11294568	-34			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	British	Great Britain	KGB	3565	Hs.73917			Genes and immunity. 2001 Feb;2(1):44-7			147780	3643	1	2001		Case:184; Control:321										
128324	Y	asthma. FEV(1)	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	0.013	Burchard EG 1999	10471619	C-589T IL-4 promoter genotype (TT)			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 1999 Sep;160(3):919-22			147780	3635	1	1999												
128326	N	Specific IgE. Wheeze	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Respiratory Sounds	5	5q31.1	IL4	132037271	132046267	n	Walley AJ 1996	8863163	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Western Australia|Great Britain	KGB	3565	Hs.73917			Journal of medical genetics. 1996 Aug;33(8):689-92			147780	3637	1	1996												
128327	N	Asthma. atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1	IL4	132037271	132046267	n	Heinzmann A 2000	10699178	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	German		KCB	3565	Hs.73917			Human molecular genetics. 2000 Mar;9(4):549-59			147780	3638	1	2000												
128318	Y	Increased IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=<0.05	Suzuki I 2000	11122213	C+33T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Clinical and experimental allergy. 2000 Dec;30(12):1746-9	Association between a C+33T polymorphism in the IL-4 promoter region and total serum IgE levels.		147780	3629	1	2000	The data suggest that IL-4 promoter C+33T polymorphism may be one of the genetic polymorphisms that explain genetic linkage or association between elevated total serum IgE levels and markers on chromosome 5q.	Case:120:asthmatics:Japanese;Control:120 healthy controls:Japanese										
128319	Y	Asthma. rhinitis	IMMUNE	IMM	Asthma|Hypersensitivity	5	5q31.1	IL4	132037271	132046267	P=0.01	Zhu S 2000	10806171	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Canadian infants (mixed)	Asia	KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			147780	3630	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
128320	Y	Total IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.023	Noguchi E 1998	9641571	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese	Japan	KGB	3565	Hs.73917			Clinical and experimental allergy. 1998 Apr;28(4):449-53			147780	3631	1	1998	 Our data suggest that the IL-4 promoter C-590T polymorphism may be associated with the development of asthma in Japanese children, but not through modulating total serum IgE levels.											
128321	Y	Asthma severity	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.0001	Chouchane L 1999	10529588	GT repeat in Intron 2			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Tunisian	Tunisia	KCB	3565	Hs.73917			International archives of allergy and immunology. 1999 Sep;120(1):50-5			147780	3632	1	1999	 Tunisian persons carrying the IL-4 A1/A3 genotype may have an increased risk of severe asthma.											
128313	Y	Total IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.023	Noguchi E 1998	9641571	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Clinical and experimental allergy. 1998 Apr;28(4):449-53			147780	3624	1	1998	 Our data suggest that the IL-4 promoter C-590T polymorphism may be associated with the development of asthma in Japanese children, but not through modulating total serum IgE levels.											
128314	Y	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267	P=0.01	Kawashima T 1998	9643293	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Journal of medical genetics. 1998 Jun;35(6):502-4			147780	3625	1	1998												
128315	Y	alzheimer`s Disease	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267	0.001	Kawashima T 1998	9643293	-590C/T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Journal of medical genetics. 1998 Jun;35(6):502-4			147780	3626	1	1998												
128317	Y	Atopic asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.002	Noguchi E 2001	11704288	haplotypes			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KCB	3565	Hs.73917			Human immunology. 2001 Nov;62(11):1251-7			147780	3628	1	2001												
128308	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267	0.001	Kawashima T 1998	9643293	-590C/T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Journal of medical genetics. 1998 Jun;35(6):502-4			147780	3619	1	1998												
128309	N	Childhood atopic asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	5	5q31.1	IL4	132037271	132046267	n	Takabayashi A 2000	10810222	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese		KCB	3565	Hs.73917			Experimental and clinical immunogenetics. 2000 ;17(2):63-70			147780	3620	1	2000												
128312	N	Asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	n	Hijazi Z 2000	10899762	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Kuwait	KCB	3565	Hs.73917			International archives of allergy and immunology. 2000 Jul;122(3):190-4			147780	3623	1	2000	 Our results do not show an association between [C590T] promoter polymorphism of the IL-4 gene and asthma in Kuwaiti Arabs. Our results are in keeping with the reports from the UK and Australian families (no association) but in contrast to the findings from US and Japanese populations (an association reported).											
128303	Y	Asthma. FEV1	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.013	Burchard EG 1999	10471619	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	U.S. Caucasian. African American		KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 1999 Sep;160(3):919-22			147780	3614	1	1999												
128305	N	Asthma. Total IgE. Eosinophilia. DRS	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Immervoll T 2001	11668616	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	German. Swedish		KCB	3565	Hs.73917			Human mutation. 2001 Oct;18(4):327-36			147780	3616	1	2001												
128299	Y	asthma; atopy	IMMUNE	IMM	Asthma	5	5q31.1	IL3	131424245	131426795		Park, B. L.  et al. 2004	15372320				Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3			CDC GDPinfo	3562	Hs.694			Journal of human genetics. 2004 ;49(10):517-27	Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy.		147740	11823	2	2004	This information about the genetic association of important genes with asthma might provide valuable insights into strategies for the pathogenesis of asthma and atopy.	Control normal controls;Case:723 Korean asthmatics										
128300		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	5	5q31.1	IL3	131424245	131426795		Ohashi, J.  et al. 2003	14551608				Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Thai	Thailand	CDC GDPinfo	3562	Hs.694			Genes and immunity. 2003 Oct;4(7):528-31	A single-nucleotide substitution from C to T at position -1055 in the IL-13 promoter is associated with protection from severe malaria in Thailand		147740	22566	2	2003	Thus, IL-13 -1055T may show resistance to severe malaria through the alteration of IL-13 production.	Cohort 361 adult malaria patients Thailand 										
128301		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL3	131424245	131426795		Barton, A.  et al. 2002	11981324				Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3			CDC GDPinfo	3562	Hs.694			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147740	28466	2	2002	Review article											
128302	Y	Asthma. atopy	IMMUNE	IMM	Burkitt Lymphoma|Asthma|Hypersensitivity, Immediate	5	5q31.1	IL4	132037271	132046267	P=0.0028	Rosenwasser LJ1995	8590350	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Japanese. British		KCB	3565	Hs.73917			Clinical and experimental allergy. 1995 Nov;25 Suppl 2:74-8; discussion 95-6			147780	3613	1	1995												
128296	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL3	131424245	131426795		Yamada R et al. 2001	11179015			promoter	Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Japanese	Japan	KGB	3562	Hs.694			American journal of human genetics. 2001 Mar;68(3):674-85	Association between a single-nucleotide polymorphism in the promoter of the human interleukin-3 gene and rheumatoid arthritis in Japanese patients and maximum-likelihood estimation of combinatorial effect that two genetic loci have on susceptibility to t		147740	3611	1	2001	Comparison of cases of RA versus control individuals yielded a chi(2) value of 14.28 (P=.0002), with a genotype odds ratio of 2.24 (95% confidence interval [95%CI] 1.44-3.49). Combined genotype data on SNPs on eight other candidate genes were combined with our IL-3 results, to estimate relationships between pairs of loci and RA, by maximum-likelihood analysis. The utility of combining the genotype data in this way to identify possible contributions of various genes to this disease is discussed.	Case Japanese rheumatoid arthritis cases;Control:controls										
128298	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL3	131424245	131426795		Yamada, R.  et al. 2001	11179015			promoter	Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Japanese	Japan	CDC GDPinfo	3562	Hs.694			American journal of human genetics. 2001 Mar;68(3):674-85	Association between a single-nucleotide polymorphism in the promoter of the human interleukin-3 gene and rheumatoid arthritis in Japanese patients, and maximum-likelihood estimation of combinatorial effect that two genetic loci have on susceptibility to t		147740	11822	2	2001	Comparison of cases of RA versus control individuals yielded a chi(2) value of 14.28 (P=.0002), with a genotype odds ratio of 2.24 (95% confidence interval [95%CI] 1.44-3.49). Combined genotype data on SNPs on eight other candidate genes were combined with our IL-3 results, to estimate relationships between pairs of loci and RA, by maximum-likelihood analysis. The utility of combining the genotype data in this way to identify possible contributions of various genes to this disease is discussed.	Case Japanese rheumatoid arthritis cases;Control:controls										
128292		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	22	22q13	IL2RB	35851825	35875908		Saito, T.  et al. 2004	15063762				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2		Japan	CDC GDPinfo	3560	Hs.474787			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		146710	28534	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
128293		X-linked severe combined immunodeficiency	IMMUNE	IMM	Severe Combined Immunodeficiency	X	Xq13.1	IL2RG	70243983	70248128		Fanos, J. H.  et al. 2001	11426455				Interleukin 2 receptor, gamma (severe combined immunodeficiency)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000206.1			CDC GDPinfo	3561	Hs.84			American journal of medical genetics. 2001 Jan;98(1):46-56	Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency.		308380	17742	2	2001	We recommend that genetic counseling for XSCID include children in age-appropriate discussions and that counselors help parents weigh benefits of early testing and disclosure versus the potential harm of loss of child autonomy.	Cohort 40 adult sibs (37 female and 3 male) recruited from families in which a proband had enrolled and attended an XSCID family workshop 										
128295	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL3	131424245	131426795	n	Hakonarson H 2001	11739132	C-68T			Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Icelandic	Iceland	KCB	3562	Hs.694			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147740	3610	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128288		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	10	10p15-p14	IL2RA	6093511	6144278		Vella, A.  et al. 2005	15776395				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1			CDC GDPinfo	3559	Hs.231367			American journal of human genetics. 2005 May;76(5):773-9	Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms		147730	11821	2	2005	These results illustrate the utility of tag SNPs in a chromosome-regional test of disease association and justify future fine mapping of the causal variant in the region.	Control:controls;Case type 1 diabetes cases										
128289		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13	IL2RB	35851825	35875908		Nimgaonkar VL et al. 1995	8546160				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2			KGB	3560	Hs.474787			American journal of medical genetics. 1995 Oct;60(5):448-51	Association study of schizophrenia and the IL-2 receptor beta chain gene.		146710	3608	1	1995												
128290		Chagas Disease	INFECTION	INF	Chagas Disease	22	22q13	IL2RB	35851825	35875908		Moreno, M.  et al. 2004	15191519				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2			CDC GDPinfo	3560	Hs.474787			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		146710	27505	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
128291		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q13	IL2RB	35851825	35875908			16380905				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2			CDC GDPinfo	3560	Hs.474787			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		146710	27941	2	2005												
128285	Y	Metastatic Melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Neoplasm Metastasis|Disease Progression	1	1q32	IL24	205137411	205144107	0.03	Ekmekcioglu S 2003	12533668				Interleukin 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006850.2	tumor samples--primary melanomas and metastatic melanomas		KEW	11009	Hs.58831			Molecular cancer therapeutics. 2003 Jan;2(1):17-Sep			604136	6691	1	2003												
128286		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	1	1q32	IL24	205137411	205144107		Oleksyk, T. K.  et al. 2005	15815689				Interleukin 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006850.2	African American		CDC GDPinfo	11009	Hs.58831			Genes and immunity. 2005 Jun;6(4):347-57	Single nucleotide polymorphisms and haplotypes in the IL10 region associated with HCV clearance.		604136	26285	2	2005	Our results indicate that variants of the immunomodulatory IL10 and IL19/IL20 genes may be involved in natural clearance of HCV in the African-American population.	Case:108 European American HCV clearance cases;Control:183 chronically infected African American matched:controls;Control:245 chronically infected European American controls;Case:91 African American HCV clearance cases										
128287		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q15	IL26	66881395	66905838		Vandenbroeck K 2003	14558082				Interleukin 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018402.1			KGB	55801	Hs.272350			Arthritis and rheumatism. 2003 Oct;48(10):2773-8	Polymorphisms in the interferon-gamma/interleukin-26 gene region contribute to sex bias in susceptibility to rheumatoid arthritis.		605679	6777	1	2003	 Our results demonstrate that common polymorphisms in the IFNgamma/IL-26 gene region may contribute to sex bias in susceptibility to RA, by distorting the propensity of female carriers versus male carriers to contract this disease. These results conform to our recent observations of a role for this gene cluster in sex-based differential susceptibility to another Th1-type inflammatory disease, multiple sclerosis.											
128281		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	4	4q26-q27	IL2	123592075	123597100		Wang, C.  et al. 2004	15057902				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		147680	27938	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
128282		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Martin, A. M.  et al. 2003	14566095				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147680	27939	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
128283		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Cinek, O.  et al. 2004	15170937				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Czech	Czech Republic	CDC GDPinfo	3558	Hs.89679			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147680	27940	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128277		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	4	4q26-q27	IL2	123592075	123597100		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147680	27504	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
128278		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100			16323127				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		147680	27758	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
128279		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		4	4q26-q27	IL2	123592075	123597100		Trejaut, J. A.  et al. 2004	15361128				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147680	27759	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
128280		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		4	4q26-q27	IL2	123592075	123597100		Trajkov, D.  et al. 2005	16100774				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147680	27760	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128273	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	4	4q26-q27	IL2	123592075	123597100		Vasilescu, A.  et al. 2003	12944981				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		147680	27034	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
128274		hepatitis C; longevity	INFECTION	INF		4	4q26-q27	IL2	123592075	123597100		Pyo, C. W.  et al. 2003	14522096				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Korean		CDC GDPinfo	3558	Hs.89679			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147680	27035	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
128276		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	4	4q26-q27	IL2	123592075	123597100			16389181				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		147680	27503	2	2006												
128270		Chagas Disease	INFECTION	INF	Chagas Disease	4	4q26-q27	IL2	123592075	123597100		Moreno, M.  et al. 2004	15191519				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		147680	27031	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
128271		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	4	4q26-q27	IL2	123592075	123597100		Hoffmann, S.  et al. 2004	15458467				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		147680	27032	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
128272		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Donn, R. P.  et al. 2001	11315919				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147680	27033	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
128267		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	4	4q26-q27	IL2	123592075	123597100		Nieters, A.  et al. 2001	11354638				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	German	Germany	CDC GDPinfo	3558	Hs.89679			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		147680	26282	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
128268		longevity	AGING	AGE		4	4q26-q27	IL2	123592075	123597100		Ross, O. A.  et al. 2003	12633940				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Irish		CDC GDPinfo	3558	Hs.89679			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		147680	26283	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
128269		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Howell, W. M.  et al. 2003	14675394				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		147680	26284	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
128263	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	4	4q26-q27	IL2	123592075	123597100		Pawlik, A.  et al. 2005	15895884				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Clinical and experimental rheumatology. 2005 Mar-Apr;23(2):159-64	IL1beta+3953 exon 5 and IL-2 -330 promoter polymorphisms in patients with rheumatoid arthritis.		147680	22565	2	2005	 We suggest that exon 5 +3953 IL1beta and IL-2 -330 promoter polymorphisms may be a genetic risk factor for RA severity.	Control:controls;Case:93 patients with rheumatoid arthritis diagnosed according to the criteria of American College of:Rheumatology										
128264		kidney transplant complications	IMMUNE	IMM		4	4q26-q27	IL2	123592075	123597100		McDaniel, D. O.  et al. 2003	12727482				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	African American		CDC GDPinfo	3558	Hs.89679			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		147680	25001	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
128265	Y	atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	4	4q26-q27	IL2	123592075	123597100		Nieters, A.  et al. 2004	15005726				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Clinical and experimental allergy. 2004 Mar;34(3):346-53	Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.		147680	25002	2	2004	 Our data suggest an association of genetic variants in IL-6 and IL-2 with hayfever, confirm a role of polymorphisms in IL-4R, IL-13, and IL-18 for the elevated IgE phenotype, and add IL-6 to the list of candidate genes.	Case:322 subjects with hayfever from the European Prospective Investigation into Cancer and:Nutrition-Heidelberg;Control:322 age- and sex-matched controls										
128259		asthma; eczema; allergic disease	IMMUNE	IMM		4	4q26-q27	IL2	123592075	123597100		Meenagh, A.  et al. 2002	12392859				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Human immunology. 2002 Nov;63(11):1055-61	Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America.		147680	22561	2	2002	No conclusion stated in abstract	Cohort Five population samples, including Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos. 										
128260		kidney disease; vascular disease	RENAL	REN	Renal Artery Obstruction|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		George, S.  et al. 2004	15104679				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Tissue antigens. 2004 May;63(5):470-5	Renovascular disease is associated with low producer genotypes of the anti-inflammatory cytokine interleukin-10		147680	22562	2	2004	The increased frequency of the low producer IL-10 promoter, -1082 A-positive genotype in patients with renal artery stenosis, suggests that IL-10 may protect against the development of atherosclerotic renovascular disease.	Control:100 normal healthy individuals;Case:66 patients with atherosclerotic renal artery stenosis										
128261	Y	gastric atrophy	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Togawa, S.  et al. 2005	15904474				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Helicobacter. 2005 Jun;10(3):172-8	Interleukin-2 gene polymorphisms associated with increased risk of gastric atrophy from Helicobacter pylori infection.		147680	22563	2	2005	 These results reveal that the IL-2 gene polymorphism is associated with an increased risk of gastric atrophy induced by H. pylori infection and might predispose to gastric cancer.	Cohort 454 Japanese subjects 	Helicobacter pylori									
128262		asthma; eczema; allergic disease	IMMUNE	IMM	Hypersensitivity	4	4q26-q27	IL2	123592075	123597100		Christensen, U.  et al. 2005	16333313				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			European journal of human genetics. 2006 Feb;14(2):227-35	Family based association analysis of the IL2 and IL15 genes in allergic disorders		147680	22564	2	2005												
128255		longevity	AGING	AGE	Immune System Diseases	4	4q26-q27	IL2	123592075	123597100		Caruso, C.  et al. 2004	15247007				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Annals of the New York Academy of Sciences. 2004 Jun;1019:141-6	Looking for immunological risk genotypes.		147680	22557	2	2004	Although in our study we were not able to show any correlation with CD4 values and no functional assessment of T cell was performed, these results suggest that cytokine genotypes may be involved in the subpopulation dynamics in old age.	Cohort old men 										
128256		asthma; eczema; allergic disease	IMMUNE	IMM	Parasitic Diseases|Autoimmune Diseases	4	4q26-q27	IL2	123592075	123597100		Kurzawski, M.  et al. 2005	16164695				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Polish	Poland	CDC GDPinfo	3558	Hs.89679			International journal of immunogenetics. 2005 Oct;32(5):285-91	Frequencies of the common promoter polymorphisms in cytokine genes in a Polish population.		147680	22558	2	2005												
128257		HIV	INFECTION	INF		4	4q26-q27	IL2	123592075	123597100		Smolnikova, M. V.  et al. 2002	12687247				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Russian journal of immunology. 2002 Dec;7(4):349-56	Association of IL2, TNFA, IL4 and IL10 Promoter Gene Polymorphisms with the Rate of Progression of the HIV Infection.		147680	22559	2	2002	The association of T/G IL2, G/A TNFA, T/T IL4, A/A IL10 allelic variants of the immunomodulator genes with a fast rate of HIV infection has been established.	Case:127 HIV-infected patients;Control:52 healthy individuals										
128251		schizophrenia	PSYCH	PSY	Schizophrenia	4	4q26-q27	IL2	123592075	123597100		Schwarz, M. J.  et al. 2005	16091861				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			European archives of psychiatry and clinical neuroscience. 2005	IL-2 and IL-4 polymorphisms as candidate genes in schizophrenia.		147680	11818	2	2005												
128252		dental implants	INFECTION	INF		4	4q26-q27	IL2	123592075	123597100			16361891			promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Implant dentistry. 2005 Dec;14(4):391-6	Interleukin-2 and Interleukin-6 Gene Promoter Polymorphisms, and Early Failure of Dental Implants		147680	11820	2	2005												
128253	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	4	4q26-q27	IL2	123592075	123597100		MacMillan, M. L.  et al. 2003	14688528				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplantation. 2003 Dec;76(12):1758-62	High-producer interleukin-2 genotype increases risk for acute graft-versus-host disease after unrelated donor bone marrow transplantation.		147680	17734	2	2003	 If confirmed by others, our results indicate that more intensive GVHD prophylaxis is needed for patients with at least one IL-2 G allele, possibly directed toward blunting early host cell production of IL-2.	Cohort 95 consecutive donor and recipient pairs who received an unrelated donor BMT at the University of Minnesota. 										
128254	N	heart transplant complications	OTHER	OTH	Vascular Diseases	4	4q26-q27	IL2	123592075	123597100		Holweg, C. T.  et al. 2003	12727483				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplant immunology. 2003 Jan-Mar;11(1):121-7	Recipient gene polymorphisms in the Th-1 cytokines IL-2 and IFN-gamma in relation to acute rejection and graft vascular disease after clinical heart transplantation		147680	22556	2	2003	In conclusion, we did not detect an association between the IL-2 T-330G promoter polymorphism and CA repeat polymorphism in the first intron of the IFN-gamma gene and AR or GVD after heart transplantation.	Cohort 301 heart transplant recipients 										
128247	Y	graft-versus-host disease	IMMUNE	IMM	Acute Disease	4	4q26-q27	IL2	123592075	123597100		Morgun, A.  et al. 2003	12826155				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplantation proceedings. 2003 Jun;35(4):1344-5	Interleukin-2 gene polymorphism is associated with renal but not cardiac transplant outcome.		147680	11808	2	2003	The fiYdiYg of the associatioY of T/T but Yot T/G geYotype with acute kidYey rejectioY was uYexpected coYsideriYg that both geYotypes were showY to be associated with equal (low) IL-2 iY vitro productioY. Further studies are Yecessary Yot oYly to dissect the Yature of IL-2 T/T geYotype associatioY with kidYey rejectioY, but also to explaiY why this geYotype does Yot appareYtly iYflueYce cardiac allograft outcome.	Cohort 67/63 recipients of heart allografts (n=67) and in recipients of renal grafts (n=63) 										
128248		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q26-q27	IL2	123592075	123597100		Ross, O. A.  et al. 2004	15120188			promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Irish	Ireland	CDC GDPinfo	3558	Hs.89679			Human immunology. 2004 Apr;65(4):340-6	Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish.		147680	11812	2	2004	This association further supports the theory that the proinflammatory response in the brains of patients with PD plays a role in the pathogenesis of the disease and warrants further investigation into the role of chemokines in the brain, and a more detailed analysis of the genetics involved in the immune response of the brain.	Case a cohort of patients with Parkinson's disease:Ireland;Control healthy elderly individuals										
128250		kidney transplant	IMMUNE	IMM	Acute Disease	4	4q26-q27	IL2	123592075	123597100		Pawlik, A.  et al. 2005	15964333			promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplantation proceedings. 2005 Jun;37(5):2041-3	IL-2 and TNF-alpha promoter polymorphisms in patients with acute kidney graft rejection.		147680	11817	2	2005	 The results suggest that TNF-alpha-308 promoter polymorphism is a risk factor for acute kidney allograft rejection.											
128243	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	4	4q26-q27	IL2	123592075	123597100		Scarel-Caminaga, R. M.  et al. 2002	12354082				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Journal of clinical periodontology. 2002 Jul;29(7):587-91	Investigation of an IL-2 polymorphism in patients with different levels of chronic periodontitis.		147680	11799	2	2002	 We conclude that the - 330 (T-->G) polymorphism in the IL-2 gene is associated with the severity of periodontal disease. The results presented in this study suggest an active role of IL-2 in the pathogenesis of periodontal disease.	Case individuals with moderate and severe levels of:periodontitis;Control:controls										
128245	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Kikuchi, S.  et al. 2002	12409183				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Japanese	Japan	CDC GDPinfo	3558	Hs.89679			Journal of the neurological sciences. 2002 Dec;205(1):47-50	An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis.		147680	11802	2	2002	Together, our findings suggest that IL-2 gene polymorphisms do not influence the susceptibility to MS or the clinical characteristics of MS in Japanese patients.	Case:113 Japanese patients with multiple sclerosis;Control:118 healthy controls										
128246	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Fedetz, M.  et al. 2003	12610796	( -384 and 114)			Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			The Journal of rheumatology. 2003 Mar;30(3):435-7	Lack of association between -384 and 114 IL-2 gene polymorphisms and rheumatoid arthritis.		147680	11803	2	2003	 Our results provide no evidence for genetic association conferred by the -384 and 114 IL-2 SNP with respect to susceptibility and severity of RA.	Control:153:controls;Case:174 rheumatoid arthritis patients										
128240	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting	4	4q26-q27	IL2	123592075	123597100		Matesanz, F.  et al. 2001	11525806				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Journal of neuroimmunology. 2001 Sep;119(1):101-5	Allelic expression and interleukin-2 polymorphisms in multiple sclerosis.		147680	11796	2	2001	These data indicate for the first time the relevance of the il-2 gene locus in human MS and its possible involvement in other autoimmune diseases.	Cohort multiple sclerosis patients 										
128241		heart transplant, rejection after	OTHER	OTH		4	4q26-q27	IL2	123592075	123597100		Holweg, C. T.  et al. 2002	11981437				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplantation. 2002 Apr;73(8):1353-6	Effect of HLA-DR matching on acute rejection after clinical heart transplantation might be influenced by an IL-2 gene polymorphism.		147680	11797	2	2002	 HLA-DR matching might only be effective in reducing AR after heart transplantation in recipients who carry allele 135 of the (CA)m(CT)n repeat in the 3'-flanking region of the IL-2 gene.	Control:101:controls;Case:290 heart transplant recipients with and without AR										
128242		asthma; eczema; allergic disease	IMMUNE	IMM		4	4q26-q27	IL2	123592075	123597100		Scarel-Caminaga, R. M.  et al. 2002	12121273				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Brazilian		CDC GDPinfo	3558	Hs.89679			European journal of immunogenetics. 2002 Aug;29(4):293-6	Frequencies of the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 gene polymorphisms in a population from south-eastern Brazil.		147680	11798	2	2002	The allele frequency of the IL-2 gene polymorphism obtained in our study was similar to that found in UK Caucasoid groups. The T allele frequency of the IL-4 gene polymorphism observed in the Caucasian Brazilian group was similar to that found in UK and Australian populations, while the frequency observed for the Black Brazilian group was similar to that found in Japanese and Kuwaiti Arab populations. The results for the -330 (T --> G) IL-2 and -590 (T --> C) IL-4 polymorphisms are consistent with the high contribution of European lineages to the population in south-eastern Brazil.	Cohort 114 unrelated individuals from Sao Paulo State south-eastern Brazil 										
128236		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	2	2q14.2	IL1RN	113573407	113608064		Zee, R. Y.  et al. 2002	12082592				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147679	28612	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128237	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100	n	Kikuchi S et al. 2002	12409183				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Japanese	Japan	KGB	3558	Hs.89679			Journal of the neurological sciences. 2002 Dec;205(1):47-50	An assessment of the association between IL-2 gene polymorphisms and Japanese patients with multiple sclerosis.		147680	3605	1	2002	Together, our findings suggest that IL-2 gene polymorphisms do not influence the susceptibility to MS or the clinical characteristics of MS in Japanese patients.	Case:113 Japanese patients with multiple sclerosis;Control:118 healthy controls										
128238	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100	n	Fedetz M et al. 2003	12610796				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			KGB	3558	Hs.89679			The Journal of rheumatology. 2003 Mar;30(3):435-7	Lack of association between -384 and 114 IL-2 gene polymorphisms and rheumatoid arthritis.		147680	3606	1	2003	 Our results provide no evidence for genetic association conferred by the -384 and 114 IL-2 SNP with respect to susceptibility and severity of RA.	Control:153:controls;Case:174 rheumatoid arthritis patients										
128232		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Martin, A. M.  et al. 2003	14566095				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147679	27756	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
128233		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Cinek, O.  et al. 2004	15170937				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Czech	Czech Republic	CDC GDPinfo	3557	Hs.81134			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147679	27757	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128234		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	2	2q14.2	IL1RN	113573407	113608064		Helbig, K. J.  et al. 2003	12595908				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147679	27937	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
128228		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Jonsen, A.  et al. 2004	15535834				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		147679	27499	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
128230		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Trajkov, D.  et al. 2005	16100774				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147679	27501	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128231		graft versus host disease	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Daly, A. K.  et al. 2002	12083951				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147679	27755	2	2002	Review article											
128225		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	2	2q14.2	IL1RN	113573407	113608064		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147679	27028	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
128226		allograft rejection, heart	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Vamvakopoulos, J. E.  et al. 2002	12095061				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		147679	27029	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
128227		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	2	2q14.2	IL1RN	113573407	113608064		Marshall, S. E.  et al. 2001	11233912				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147679	27030	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
128221	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14.2	IL1RN	113573407	113608064		Bosco, P.  et al. 2004	15201366				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Italy	CDC GDPinfo	3557	Hs.81134			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		147679	26280	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
128223		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Donaldson, P.  et al. 2001	11171832				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Gut. 2001 Mar;48(3):397-402	HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with diseaseprogression and disease susceptibility.		147679	27026	2	2001	 These data indicate a complex relationship between immunoregulatory genes and PBC. While the IL-1 genes are markers of both disease susceptibility and progression, HLA genes appear to be principally associated with disease progression.	Cohort 164 well characterised chirrhosis patients 										
128224		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064			16389181				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		147679	27027	2	2006												
128218		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Nguyen, D. P.  et al. 2004	15292002				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		147679	26277	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
128219		hepatitis C; longevity	INFECTION	INF		2	2q14.2	IL1RN	113573407	113608064		Pyo, C. W.  et al. 2003	14522096				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Korean		CDC GDPinfo	3557	Hs.81134			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147679	26278	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
128220		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Gastritis, Atrophic|Metaplasia	2	2q14.2	IL1RN	113573407	113608064		Rad, R.  et al. 2004	15247172				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Gut. 2004 Aug;53(8):1082-9	Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection.		147679	26279	2	2004	 Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and the long term development of precancerous lesions in H pylori infection. Host polymorphisms are associated with certain bacterial strain types, suggesting host specific colonisation or adaptation. These findings contribute to the understanding of the complex interplay between host and bacterial factors involved in the development of gastric pathology.	Cohort 207 H pylori infected patients with chronic gastritis 										
128215		lymphoma, malignant	CANCER	CAN	Lymphoma	2	2q14.2	IL1RN	113573407	113608064		Matsuo, K.  et al. 2001	11423389				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Haematologica. 2001 Jun;86(6):602-8	No substantial difference in genotype frequencies of interleukin and myeloperoxidase polymorphisms between malignant lymphoma patients and non-cancer controls.		147679	24998	2	2001	 Our data show a limited association between these polymorphisms and malignant lymphoma risk in total. The possible association of the IL-1A and IL-1B polymorphisms with DLB-needs further clarification.	Control:241 non-cancer control subjects:Japan;Case:372 lymphoma cases:Japan										
128216		H. pylori infection	INFECTION	INF		2	2q14.2	IL1RN	113573407	113608064		Matsuo, K.  et al. 2003	12729191				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Epidemiology and infection. 2003 Apr;130(2):227-33	Smoking and polymorphisms of fucosyltransferase gene Le affect success of H. pylori eradication with lansoprazole, amoxicillin, and clarithromycin		147679	24999	2	2003	Although further clarification is necessary, our study indicated that smoking cessation and Le gene polymorphisms may affect the success rate of HP eradication.	Cohort 142 patients with H. pylori infection Japan 	amoxycillin clarithromycin lansoprazole smoking (tobacco)									
128217		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Diseases|Periodontal Attachment Loss|Periodontitis	2	2q14.2	IL1RN	113573407	113608064		Meisel, P.  et al. 2002	11846196				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Journal of periodontology. 2002 Jan;73(1):27-32	Smoking and polymorphisms of the interleukin-1 gene cluster (IL-1alpha, IL-1beta, and IL-1RN) in patients with periodontal disease.		147679	25000	2	2002	 The results provide evidence that the composite genotypes studied show interaction with smoking, the main exposition-related risk factor of periodontal disease. Non-smoking subjects are not at increased risk, even if they are genotype-positive.	Cohort 154 Caucasian subjects 	smoking (tobacco)									
128211		hypertension	CARDIOVASCULAR	CARD		2	2q14.2	IL1RN	113573407	113608064		Li, Y.  et al. 2004	15476179				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):491-3	[Study on the polymorphism of interleukin-1 gene and the susceptibility to essential hypertension]		147679	24994	2	2004	 The polymorphism of promotor region -511C/T in IL-1beta gene is probably associated with the susceptibility to essential hypertension.	Case:152 patients with essential hypertension;Control:168 healthy controls										
128212	Y	sepsis	INFECTION	INF		2	2q14.2	IL1RN	113573407	113608064		Yang, M. S.  et al. 2005	15836820				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Zhongguo wei zhong bing ji jiu yi xue. 2005 Apr;17(4):203-6	[Association of different alleles in interleukin-1 family genes with the coded cytokines production and outcome of sepsis]		147679	24995	2	2005	 IL-1RN2 allele induces high IL-1ra expression and is closely with the outcome of patients in sepsis. It could be one of high risk genetic factors in septic patients.	Control healthy volunteers;Case sepsis patients										
128214		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	2	2q14.2	IL1RN	113573407	113608064		Genevay, S.  et al. 2002	12115161				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147679	24997	2	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
128208	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Joki-Erkkila, V. P.  et al. 2003	14533660				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Annals of allergy, asthma & immunology. 2003 Sep;91(3):275-9	Allergic rhinitis and polymorphisms of the interleukin 1 gene complex.		147679	24991	2	2003	 The IL-1 gene complex polymorphism is strongly associated with allergic rhinitis in nonasthmatic individuals.	Cohort 405 nonasthmatic individuals of whom 56 had allergic rhinitis 										
128209	Y	vulvar cancer	CANCER	CAN	Carcinoma, Squamous Cell|Vulvar Neoplasms|Cell Transformation, Neoplastic	2	2q14.2	IL1RN	113573407	113608064		Grimm, C.  et al. 2004	14984963				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Gynecologic oncology. 2004 Mar;92(3):936-40	A polymorphism of the interleukin-1 receptor antagonist plays a prominent role within the interleukin-1 gene cluster in vulvar carcinogenesis.		147679	24992	2	2004	 We are the first to report on polymorphisms in genes encoding cytokines in patients with vulvar cancer. Reflecting its biological role, the common IL1RN intron 2 polymorphism seems to play a prominent role within the IL-1 gene cluster with respect to vulvar carcinogenesis.	Control:228 healthy Caucasian controls;Case:68 patients with surgically treated vulvar cancer										
128210		dysthymia	OTHER	OTH	Genetic Predisposition to Disease|Dysthymic Disorder	2	2q14.2	IL1RN	113573407	113608064		Fertuzinhos, S. M.  et al. 2004	14997019				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Brazil	CDC GDPinfo	3557	Hs.81134			Journal of molecular neuroscience. 2004 ;22(3):251-6	Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.		147679	24993	2	2004	These results suggest that these polymorphisms might confer a greater susceptibility to develop dysthymia in Brazilian patients. However, to validate these data it will be of great interest to repeat this study in larger samples and other ethnic groups.	Case:59 dysthymic patients:Brazil;Control:69 normal controls										
128205		stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Lu, W.  et al. 2004	15579481				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese		CDC GDPinfo	3557	Hs.81134			Carcinogenesis. 2005 Mar;26(3):631-6	Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population.		147679	24988	2	2004	These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population.	Case:250 incident cases with gastric cancer Northern China;Control:300:controls										
128206		stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Garza-Gonzalez, E.  et al. 2003	15127646				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Mexican	Mexico	CDC GDPinfo	3557	Hs.81134			Rev Gastroenterol Mex. 2003 Apr-Jun;68(2):107-12	[Role of polymorphism of certain cytokines in gastric cancer in Mexico. Preliminary results]		147679	24989	2	2003	 The results of this preliminary study confirm that the pro-inflammatory IL-1B genotypes, as well as male gender, are risk factors for development of gastric cancer in Mexican population.	Control:25 ethnically matched healthy controls (mean age =:39.9, F/M = 3.12);Case:33 unrleated Mexican patients with histologically confirmed gastric cancer (n = 25) or high-grade dysplasia (n = 8) (mean age 62.7, F/M = 0.37):Mexico										
128207		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q14.2	IL1RN	113573407	113608064		Lin, R. C.  et al. 2002	11840488				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Australia	CDC GDPinfo	3557	Hs.81134			American journal of medical genetics. 2002 Feb;107(4):311-6	Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension.		147679	24990	2	2002	In conclusion, no association of the IL1B C([minus sign][?]31)T with HT was found, whereas combined frequency of the minor alleles of the IL1RN polymorphism was increased in the HT cohort studied	Cohort white Anglo-Celtic individuals Sydney, Australia 										
128202	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Martinez, A.  et al. 2003	12618859				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Spanish	Spain	CDC GDPinfo	3557	Hs.81134			Genes and immunity. 2003 Mar;4(2):117-21	Genetic polymorphisms in Spanish rheumatoid arthritis patients: an association and linkagestudy.		147679	24985	2	2003	Our data suggest that most of the loci studied play no major role in the susceptibility to RA, the IL-10 gene being the sole exception.	Case rheumatoid arthritis patients;Control:controls										
128203		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Chen, C. C.  et al. 2005	16172101				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		147679	24986	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
128204	Y	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	2	2q14.2	IL1RN	113573407	113608064		Fan, L. Y.  et al. 2004	15562761				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese		CDC GDPinfo	3557	Hs.81134			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Oct;26(5):505-9	[Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population]		147679	24987	2	2004	 The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC, and the polymorphisms of IL-1 +3953 and IL-10 promoter gene are not associated with PBC in a Chinese population.	Control:160 healthy controls;Case:77 patients with primary biliary cirrhosis										
128197		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Wu, S. F.  et al. 2005	15900570				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Taiwan	CDC GDPinfo	3557	Hs.81134			Journal of clinical laboratory analysis. 2005 ;19(3):99-102	Association of IL-1Ra gene polymorphism, but no association of IL-1beta and IL-4 gene polymorphisms, with Kawasaki disease.		147679	22552	2	2005	The genotype I/II for IL1-Ra and the frequency of allele II for IL1-Ra are associated with a higher susceptibility to KD, and thus may be useful markers for predicting the development of KD.	Control:103 normal controls;Case:107 Kawasaki disease patients										
128199	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections	2	2q14.2	IL1RN	113573407	113608064		Read, R. C.  et al. 2000	11023482				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The Journal of infectious diseases. 2000 Nov;182(5):1557-60	An interleukin-1 genotype is associated with fatal outcome of meningococcal disease.		147679	22554	2	2000	There was no association between TNF genotype and fatal outcome. These data suggest that IL-1 genotype influences the severity of meningococcal disease.	Cohort 276 white patients 4-70 years of age (median, 17 years) 										
128200		stomach cancer; gastritis	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	2	2q14.2	IL1RN	113573407	113608064		Machado, J. C.  et al. 2003	12891537				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		147679	22555	2	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:221/287 individuals with chronic gastritis (n=221) and gastric carcinoma patients (n=287)										
128193		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Kang, W. K.  et al. 2004	15266130				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The Korean journal of gastroenterology. 2004 Jul;44(1):25-33	[The role of interleukin-1beta gene polymorphism in the gastric carcinogenesis]		147679	22548	2	2004	 The single nucleotide polymorphism of IL-1B-31C may contribute to the development of the gastric adenocarcinoma in the H. pylori-positive population.	Control:100 healthy individuals;Case:258 patients with gastric adenocarcinoma	Helicobacter pylori									
128194	N	stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Hu, S.  et al. 2004	15485792				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese		CDC GDPinfo	3557	Hs.81134			Di yi jun yi da xue xue bao. 2004 Oct;24(10):1171-3	[Association of interleukin-1 gene polymorphism with gastric cancer in a high-risk area of China.]		147679	22549	2	2004	 IL-1 gene polymorphism may be not associated with the risk of gastric cancer in this high-risk area.	Control:169 normal subjects;Case:86 gastric cancer patients Shaanxi Province, China										
128196		inflammatory bowel disease; bone density	METABOLIC	MET	Osteoporosis|Inflammatory Bowel Diseases	2	2q14.2	IL1RN	113573407	113608064		Nemetz, A.  et al. 2001	11600466				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Gut. 2001 Nov;49(5):644-9	Allelic variation at the interleukin 1beta gene is associated with decreased bone mass in patients with inflammatory bowel diseases.		147679	22551	2	2001	 Our results suggest that genetic variability may be a major determinant of bone loss in IBD. Carriers of IL1B-511*2, who are hypersecretors of IL-1beta, have a higher risk of presenting with low bone mass in IBD. Screening for this allele may contribute to determination of the risk of bone loss at the time of disease onset.	Control:58 healthy controls (HC; 28 men/30 women; 32.4 (1.2):years);Case:75 inflammatory bowel disease patients (34 men/41:women; 40.3 (1.6) years)										
128190	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Duan, H.  et al. 2002	12593203				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Hua xi kou qiang yi xue za zhi. 2002 Feb;20(1):48-51	[The association between IL-1 gene polymorphisms and susceptibility to severe periodontitis]		147679	22545	2	2002	 IL-1B + 3953/Taq I allele 2 and IL-1RN nitrol IL/VNTR allele 2 are genetic indicators of susceptibility to severe AP and RPP, and both AP and RPP are genetic heterogeneous.	Case:30/20 Chinese Han severe adult periodontitis patients (n=30) and patients with rapid progressive:periodontitis (n=20);Control:94 healthy controls										
128191	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Precancerous Conditions	2	2q14.2	IL1RN	113573407	113608064		Sui, G. P.  et al. 2003	14521725				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		China	CDC GDPinfo	3557	Hs.81134			Zhonghua yi xue za zhi. 2003 Sep;83(17):1479-83	[Correlation between polymorphisms of interleukin-1beta and RN genes and risk of gastric carcinoma: a case-control study]		147679	22546	2	2003	 IL-1beta-31 genotypes and. IL-2RN VNTR do not increase the risk of gastric carcinoma. The IL-1beta-511 T genotype increases the risk of gastric carcinoma in every precancerous stage.	Case:143 patients with gastric carcinoma (97 from Linqu County, Shandong Province, and 46 cases from the specimen bank of Beijing Cancer Hospital) Shangong Province and Beijing, China;Control:337 controls without gastric carcinoma, most of which suffered from other gastric diseases Linqu County										
128192	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	2	2q14.2	IL1RN	113573407	113608064		Zhang, P.  et al. 2003	14669220				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):508-11	[Relationship of interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms with chronic hepatitis B]		147679	22547	2	2003	 The polymorphisms of the promoter region -511C/T of IL-1B gene and IL-1RN intron 2 gene are associated with the development of chronic hepatitis B. The people with IL-1RN*2 allele may be protected against HBV infection, and the IL-1B -511 CC genotype may be linked to HBV-DNA copy.	Case:190 paitnets with chronic hepatitis B;Control:249 normal controls										
128186		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Thomson, W.  et al. 2002	12223104				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		147679	22541	2	2002	Review article											
128188	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q14.2	IL1RN	113573407	113608064		Craggs, A.  et al. 2001	11686217				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		England	CDC GDPinfo	3557	Hs.81134			Scandinavian journal of gastroenterology. 2001 Nov;36(11):1173-8	Absence of a genetic association between IL-1RN and IL-1B gene polymorphisms in ulcerative colitis and Crohn disease in multiple populations from northeast England		147679	22543	2	2001	 The findings of this study lead us to reject the IL-1RN*2 association with IBD.	Control:289 racially and geographically matched healthy:controls;Case:529 northern European Caucasoid patients with IBD (347 UC, 182 CD) northern England										
128189	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		He, X.  et al. 2002	12133467				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese		CDC GDPinfo	3557	Hs.81134			Zhonghua yi xue za zhi. 2002 May;82(10):685-8	[Relationship between interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms and susceptibility to gastric cancer]		147679	22544	2	2002	 The polymorphism of promotor region -31C/T of IL-1B gene and the polymorphism of IL-1RN genes 1/2 and 2/2 are associated with the susceptibility of gastric cancer in Chinese. Carrying -31T allele increases the risk of gastric cancer. Polymorphism of IL-1RN and IL-1B gene may be used as indicators of susceptibility of gastric carcinogenesis.	Case:50 patietns with gastric cancer;Control:50 normal controls										
128183	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Glas, J.  et al. 2004	15570075				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Journal of clinical oncology. 2004 Dec;22(23):4746-52	Allele 2 of the interleukin-1 receptor antagonist gene is associated with early gastric cancer.		147679	14355	2	2004	 The genotype IL-1RN*2/2 seems to be associated with early-stage gastric cancer. As opposed to advanced-stage gastric cancer, further proinflammatory cytokine polymorphisms were not associated independently, but might act in combination and mirror early steps of gastric carcinogenesis in hosts colonized by Helicobacter pylori. However, these findings await confirmation in future trials and should be underscored by gene expression studies.	Control:145:controls;Case:88 patients with early-stage gastric cancer (stage T1, 77 positive for Helicobacter pylori)	Helicobacter pylori									
128184		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Acute Disease	2	2q14.2	IL1RN	113573407	113608064		Ray, K. K.  et al. 2005	15670034				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Journal of thrombosis and haemostasis. 2005 Feb;3(2):287-91	A potential pharmacogenomic strategy for anticoagulant treatment in non-ST elevation acute coronary syndromes: the role of interleukin-1receptor antagonist genotype.		147679	17731	2	2005	 IL-1RN genotype may be a useful marker to identify patients that benefit from LMWH in non-ST elevation ACS.	Cohort 67 patients with non-ST elevation acute coronary syndrome 										
128185	Y	vulvar vestibulitis syndrome	UNKNOWN	UNK	Pain|Vulvar Diseases|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Foster, D. C.  et al. 2004	15305821				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The Journal of reproductive medicine. 2004 Jul;49(7):503-9	Impact of genetic variation in interleukin-1 receptor antagonist and melanocortin-1 receptor genes on vulvar vestibulitis syndrome.		147679	18180	2	2004	 The risk of VVS is increased with proinflammatory genetic variants of IL1RN and MC1R, and combined genetic effects are associated with additive risk. This study supports a genetic contribution to VVS, suggests an increased risk of VVS in women withfair skin and indicates potential new treatment and primary prevention options.	Case:36 consecutive vulvar vestibulitis syndrome patients;Control:69 pain-free controls										
128179	Y	Asthma	IMMUNE	IMM	Asthma	2	2q14.2	IL1RA	113584922	113607821	P=0.007	Mao XQ 2000	11027520	A2			interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068441	Japanese		KCB	3557	Hs.81134			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147810	3604	1	2000												
128180	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	2	2q14.2	IL1RN	113573407	113608064		Zee, R. Y.  et al. 2001	11816697			intron	Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Thrombosis and haemostasis. 2001 Nov;86(5):1141-3	A prospective evaluation of the interleukin-1 receptor antagonist intron 2 gene polymorphism and the risk of myocardial infarction.		147679	11792	2	2001	In this large, prospective study, the IL1RN-VNTR gene polymorphism is not associated with risks of future MI. These data also highlight the importance of hypothesis testing studies in genetic epidemiology, particularly for hypotheses generated from small samples or post hoc subgroup analyses.	Case:385 myocardial infarction cases;Control:385 age- and smoking-matched control subjects										
128181		lipoprotein	METABOLIC	MET	Hyperlipidemias|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Xu, P.  et al. 2004	15231136			intron	Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Zhonghua liu xing bing xue za zhi. 2004 Jun;25(6):522-6	[The distribution of gene polymorphisms in the intron 2 and exon 2 of interleukin-1 receptor antagonist and their correlation with the serum lipoprotein level]		147679	11793	2	2004	 There were two gene polymorphisms in the intron 2 and exon 2 of IL-1RN, which were not correlated with the levels of serum lipoprotein, IL-1 and IL-1Ra. However, there seemed to be a linkage disequilibrium between IL-1RN (VNTR) and IL-1RN (+8006).	Cohort 251 healthy Chinese Han Population Wuhan province, China 										
128174	Y	Severe sepsis/nonsurvival	INFECTION	INF	Sepsis|Genetic Predisposition to Disease	2	2q14.2	IL1RA	113584922	113607821	<0.01	Fang XM 1999	10446828	IL-1raA2			interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068441	93 severe sepsis	Germany	KGB	3557	Hs.81134			Critical care medicine. 1999 Jul;27(7):1330-4			147810	3599	1	1999	 In contrast to the TNF-beta NcoI polymorphism, which has been associated with patients' nonsurvival, the allele IL-1raA2 of the polymorphism within the intron 2 of IL-1ra may contribute to susceptibility to sepsis.											
128175		Sepsis	IMMUNE	IMM	Sepsis|Genetic Predisposition to Disease	2	2q14.2	IL1RA	113584922	113607821	<0.01	Ma P 2002	12006801	IL-1raA2			interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068441	60 sepsis pts		KGB	3557	Hs.81134			Critical care medicine. 2002 May;30(5):1046-50			147810	3600	1	2002	 Allele interleukin-1RN2, but not interleukin-1A or interleukin-1B gene polymorphism, was associated with susceptibility to sepsis. Alleles A2, B2, and RN2 might be important high-risk genetic markers for sepsis.											
128176	Y	Severe sepsis	INFECTION	INF	Sepsis|Genetic Predisposition to Disease	2	2q14.2	IL1RA	113584922	113607821	0.04	Arnalich F 2002	11876758	IL-1raA2			interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068441	78 sepsis pts	Spain	KGB	3557	Hs.81134			Clinical and experimental immunology. 2002 Feb;127(2):331-6			147810	3601	1	2002												
128177	Y	Asthma	IMMUNE	IMM	Asthma	2	2q14.2	IL1RA	113584922	113607821	P=0.007	Mao XQ 2000	11027520	A2 allele			interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068441	Japanese		KCB	3557	Hs.81134			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147810	3602	1	2000												
128170		Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q14.2	IL1RN	113573407	113608064		Adjers K 2004	15007345				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Finland	KGB	3557	Hs.81134			The Journal of allergy and clinical immunology. 2004 Mar;113(3):445-7	Epistatic effect of IL1A and IL4RA genes on the risk of atopy.		147679	3595	1	2004	 These data suggest that the IL1A and IL4RA genes show an epistatic effect on the risk of atopy.											
128171	Y	vulvar carcinogenesis	CANCER	CAN	Carcinoma, Squamous Cell|Vulvar Neoplasms|Cell Transformation, Neoplastic	2	2q14.2	IL1RN	113573407	113608064	0.03	Grimm C 2004	14984963				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	caucasian		KGB	3557	Hs.81134	Presence of the minor allele of the IL1RN polymorphism was found to be protective for vulvar cancer		Gynecologic oncology. 2004 Mar;92(3):936-40	A polymorphism of the interleukin-1 receptor antagonist plays a prominent role within the interleukin-1 gene cluster in vulvar carcinogenesis.		147679	3596	1	2004	 We are the first to report on polymorphisms in genes encoding cytokines in patients with vulvar cancer. Reflecting its biological role, the common IL1RN intron 2 polymorphism seems to play a prominent role within the IL-1 gene cluster with respect to vulvar carcinogenesis.	Control:228 healthy Caucasian controls;Case:68 patients with surgically treated vulvar cancer										
128172		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q14.2	IL1RN	113573407	113608064		Huang CM 2002	12111633				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese		Y Wang	3557	Hs.81134			Clinical rheumatology. 2002 Jun;21(3):255-7	Interleukin-1 receptor antagonist gene polymorphism in chinese patients with systemic lupus erythematosus.		147679	3597	1	2002												
128173	Y	nephropathy	RENAL	REN	Diabetic Nephropathies	2	2q14.2	IL1RN	113573407	113608064		Blakemore AI et al. 1996	8786086				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Human genetics. 1996 Mar;97(3):369-74	Interleukin-1 receptor antagonist allele (IL1RN*2) associated with nephropathy in diabetes mellitus.		147679	3598	1	1996												
128166	N	chronic atrophic gastritis and gastric carcinoma	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	2	2q14.2	IL1RN	113573407	113608064	0,07	Machado JC 2003	12891537				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	North Portugal		KGB	3557	Hs.81134			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		147679	3591	1	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:221/287 individuals with chronic gastritis (n=221) and gastric carcinoma patients (n=287)										
128167		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Pociot F 2004	7605869				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Danish	Denmark	Y Wang	3557	Hs.81134			Autoimmunity. 1994 ;19(3):169-78	Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood		147679	3592	1	2004												
128168		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q14.2	IL1RN	113573407	113608064		Suzuki H 1997	9041953				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Japanese	Japan	Y Wang	3557	Hs.81134			Arthritis and rheumatism. 1997 Feb;40(2):389-90	Interleukin-1 receptor antagonist gene polymorphism in Japanese patients with systemic lupus erythematosus.		147679	3593	1	1997												
128162	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q14.2	IL1RN	113573407	113608064		Tountas NA et al. 1999	10500062				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Gastroenterology. 1999 Oct;117(4):806-13	Functional and ethnic association of allele 2 of the interleukin-1 receptor antagonist gene in ulcerative colitis.		147679	3587	1	1999	 These results provide further evidence that IL-1ra is important in the predisposition to UC, there may be genetic or pathogenetic heterogeneity between different ethnic groups, and UC and CD are genetically distinct diseases.											
128163	Y	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism	2	2q14.2	IL1RN	113573407	113608064		Pastor IJ et al. 2000	11045853				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Spanish	Spain	KGB	3557	Hs.81134			Alcoholism, clinical and experimental research. 2000 Oct;24(10):1479-82	Polymorphism in the interleukin-1 receptor antagonist gene is associated with alcoholism in Spanish men.		147679	3588	1	2000	 The presence of the A1 allele of the IL1RN gene is associated with a higher risk of alcoholism in Spanish men.											
128164	Y	psoriasis	IMMUNE	IMM	Psoriasis	2	2q14.2	IL1RN	113573407	113608064		Tarlow JK et al. 1997	9039327				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The British journal of dermatology. 1997 Jan;136(1):147-8	Association between interleukin-1 receptor antagonist (IL-1ra) gene polymorphism and early and late-onset psoriasis.		147679	3589	1	1997												
128157	Y	renal involvement and renal sequelae	OTHER	OTH	Glomerulonephritis|Purpura, Schoenlein-henoch|Vasculitis, Allergic Cutaneous|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Amoli MM et al. 2002	12136897				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The Journal of rheumatology. 2002 Jul;29(7):1404-7	Interleukin 1 receptor antagonist gene polymorphism is associated with severe renal involvement and renal sequelae in Henoch-Schonlein purpura.		147679	3582	1	2002	 In unselected patients with cutaneous vasculitis, carriage of ILRN*2 alleles influences disease severity rather than susceptibility.											
128159	Y	IgA nephropathy	RENAL	REN	Glomerulonephritis, IGA	2	2q14.2	IL1RN	113573407	113608064		Watanabe M et al. 2002	12138282				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Nephron. 2002 Aug;91(4):744-6	Association of interleukin-1 receptor antagonist gene polymorphism with IgA nephropathy.		147679	3584	1	2002												
128160	Y	enhanced IL-1beta production	OTHER	OTH		2	2q14.2	IL1RN	113573407	113608064		Santtila S et al. 1998	9519856				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Scandinavian journal of immunology. 1998 Mar;47(3):195-8	Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro.		147679	3585	1	1998												
128161	N	Ulcerative Colitis	IMMUNE	IMM	Colitis, Ulcerative|Disease Susceptibility	2	2q14.2	IL1RN	113573407	113608064	n	Hacker UT 1997	9203941	2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Southern German Population	Germany	KGB	3557	Hs.81134			Gut. 1997 May;40(5):623-7			147679	3586	1	1997	 No association of a polymorphism in the interleukin-1 receptor antagonist gene with ulcerative colitis could be identified in this southern German population. The findings of an earlier study reporting an increased frequency of allele 2, particularly in patients with pancolitis, could not be confirmed.	Case:197; Control:234										
128153	Y	early postmenopausal bone loss at the spine.	OTHER	OTH	Osteoporosis, Postmenopausal	2	2q14.2	IL1RN	113573407	113608064		Keen RW et al. 1998	9763149				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Bone. 1998 Oct;23(4):367-71	Allelic variation at the interleukin-1 receptor antagonist gene is associated with early postmenopausal bone loss at the spine.		147679	3578	1	1998												
128154	Y	gastric carcinoma	CANCER	CAN	Intestinal Neoplasms|Stomach Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Machado JC et al. 2001	11606496				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Portugal	KGB	3557	Hs.81134			Gastroenterology. 2001 Oct;121(4):823-9	Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma.		147679	3579	1	2001	 Our results provide further support to the association between IL-1 gene cluster proinflammatory polymorphisms and increased risk of gastric carcinoma. Furthermore, we found evidence pointing to the existence of a synergistic interaction between the IL-1B and IL-1RN polymorphisms.											
128156	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	2	2q14.2	IL1RN	113573407	113608064	n	Chou HT et al. 2003	12578333				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese	China|Taiwan	KGB	3557	Hs.81134			The Journal of heart valve disease. 2003 Jan;12(1):38-44	Lack of association of genetic polymorphisms in the interleukin-1beta interleukin-1 receptor antagonist interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese.		147679	3581	1	2003	 These findings suggest that the IL-1beta, IL-1Ra, IL-4 or IL-10 gene polymorphisms are not suitable genetic markers of MVP in Taiwan Chinese.											
128149	Y	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2	2	2q14.2	IL1RN	113573407	113608064		Marculescu R et al. 2002	12453918				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Diabetes. 2002 Dec;51(12):3582-5	Interleukin-1 receptor antagonist genotype is associated with coronary atherosclerosis in patients with type 2 diabetes.		147679	3574	1	2002												
128150		preeclampsia	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Lachmeijer AM et al. 2002	12044341				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Hypertension in pregnancy. 2002 ;21(1):23-38	Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia.		147679	3575	1	2002	 None of the IL1B and IL1RN polymorphisms provided evidence for either association or linkage with the risk for (pre)eclampsia/HELLP syndrome, preeclampsia only or HELLP syndrome only.											
128151	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	2	2q14.2	IL1RN	113573407	113608064	n	Hacker UT et al. 1998	9568467				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			European journal of clinical investigation. 1998 Mar;28(3):214-9	Inflammatory bowel disease: no association between allele combinations of the interleukin (IL) I beta and IL-I receptor antagonist gene polymorphisms.		147679	3576	1	1998	 Thus, we could not confirm the results of a previous study reporting an association between the IL-1ra and IL-1 beta gene polymorphisms in patients with inflammatory bowel disease.											
128152	N	bone mineral density	METABOLIC	MET		2	2q14.2	IL1RN	113573407	113608064	n	Bajnok E et al. 2000	11033452				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Bone. 2000 Oct;27(4):559-62	Lack of association between interleukin-1 receptor antagonist protein gene polymorphism and bone mineral density in Hungarian postmenopausal women.		147679	3577	1	2000												
128145	Y	rate of decline in lung function in smokers	OTHER	OTH		2	2q14.2	IL1RN	113573407	113608064		Joos L et al. 2001	11641511				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Thorax. 2001 Nov;56(11):863-6	Association of IL-1beta and IL-1 receptor antagonist haplotypes with rate of decline in lung function in smokers.		147679	3570	1	2001	 These results suggest that IL1B/IL1RN haplotypes play a role in the rate of decline in lung function in smokers.											
128146	N	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q14.2	IL1RN	113573407	113608064	n	Danis VA et al. 1995	7614783				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Disease markers. 1995 Mar;12(2):135-9	Lack of association between an interleukin-1 receptor antagonist gene polymorphism and systemic lupus erythematosus.		147679	3571	1	1995												
128147	Y	Graves disease	IMMUNE	IMM	Eye Diseases|Graves Disease|Thyroiditis, Autoimmune	2	2q14.2	IL1RN	113573407	113608064		Blakemore AI et al. 1995	7530255				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The Journal of clinical endocrinology and metabolism. 1995 Jan;80(1):111-5	Association of Graves' disease with an allele of the interleukin-1 receptor antagonist gene.		147679	3572	1	1995												
128148	Y	alopecia areata	IMMUNE	IMM	Alopecia	2	2q14.2	IL1RN	113573407	113608064		Tarlow JK et al. 1994	8077705				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The Journal of investigative dermatology. 1994 Sep;103(3):387-90	Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene.		147679	3573	1	1994												
128141	N	Graves disease	IMMUNE	IMM	Graves Disease	2	2q14.2	IL1RN	113573407	113608064	n	Cuddihy RM et al. 1996	8954062				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	caucasian		KGB	3557	Hs.81134			The Journal of clinical endocrinology and metabolism. 1996 Dec;81(12):4476-8	Lack of an association between alleles of interleukin-1 alpha and interleukin-1 receptor antagonist genes and Graves' disease in a North American Caucasian population.		147679	3565	1	1996	We conclude that  neither the A2 allele of the IL-1 receptor antagonist gene nor the IL-1 alpha exon 5 polymorphism confers increased susceptibility to GD.											
128142	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		McGarry F et al. 2001	11752505				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Rheumatology (Oxford, England). 2001 Dec;40(12):1359-64	A polymorphism within the interleukin 1 receptor antagonist (IL-1Ra) gene is associated with ankylosing spondylitis.		147679	3567	1	2001	 This report of an association with a polymorphic site within the IL-1 locus and AS suggests that genes other than B27 may well be involved in the pathogenesis of AS.											
128143	Y	early onset periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Tai H et al. 2002	12445219				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Japanese	Japan	KGB	3557	Hs.81134			Journal of clinical periodontology. 2002 Oct;29(10):882-8	Association of interleukin-1 receptor antagonist gene polymorphisms with early onset periodontitis in Japanese.		147679	3568	1	2002	 These findings suggest that IL-1RN (VNTR) polymorphisms are associated with G-EOP in Japanese.											
128137	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Cerebrovascular Disorders|Cardiovascular Diseases|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Cvetkovic JT et al. 2002	11838837				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The Journal of rheumatology. 2002 Feb;29(2):212-9	Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha IL-1beta and IL-1Ra genes.		147679	3561	1	2002	 The Al allele of TNF-alpha associates with RA. Genotypes A1A2 of TNF-alpha and A2A2 of IL-1beta are associated with more severe disease. The allelic combination A1IL-1beta/A2 IL-1Ra is less often present in RA patients who developed cardiovascular complications.											
128138	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q14.2	IL1RN	113573407	113608064		Schrijver HM et al. 1999	10025794				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Neurology. 1999 Feb;52(3):595-9	Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS.		147679	3562	1	1999	 IL-1RA and IL-1beta are disease severity genes rather than disease susceptibility genes. Furthermore, these gene polymorphisms may define subgroups of patients with a worse prognosis.											
128139	Y	resistance to liver graft rejection to steroid therapy	OTHER	OTH	Acute Disease	2	2q14.2	IL1RN	113573407	113608064		Conti F et al. 2000	11073827				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134	resistance		The American journal of pathology. 2000 Nov;157(5):1685-92	Defective interleukin-1 receptor antagonist production is associated with resistance of acute liver graft rejection to steroid therapy.		147679	3563	1	2000												
128132	Y	Ulcerative Colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064	p=0.007	Mansfield JC 1994	8119534	2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Gastroenterology. 1994 Mar;106(3):637-42			147679	3556	1	1994	 This observation provides evidence that interleukin-1 receptor antagonist may have a role in determining the genetic susceptibility to and pathogenesis of ulcerative colitis.	Case:191; Control:261										
128134	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	2	2q14.2	IL1RN	113573407	113608064		Carter MJ et al. 2001	11247888				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	caucasian	Northern Ireland	KGB	3557	Hs.81134			Gut. 2001 Apr;48(4):461-7	Association of the interleukin 1 receptor antagonist gene with ulcerative colitis in Northern European Caucasians.		147679	3558	1	2001	 The association of the interleukin 1 receptor antagonist gene polymorphism with ulcerative colitis is confirmed. The association is minor and confers only a small risk to an individual but will contribute a high attributable risk in a population due to the high allelic frequency. Accurate phenotypic characterisation defines more homogeneous subsets of patients, such as those with extensive disease, in whom the association is greater.											
128136	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Cerebrovascular Disorders|Cardiovascular Diseases|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Cvetkovic JT et al. 2002	11838837				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			The Journal of rheumatology. 2002 Feb;29(2):212-9	Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha IL-1beta and IL-1Ra genes.		147679	3560	1	2002	 The Al allele of TNF-alpha associates with RA. Genotypes A1A2 of TNF-alpha and A2A2 of IL-1beta are associated with more severe disease. The allelic combination A1IL-1beta/A2 IL-1Ra is less often present in RA patients who developed cardiovascular complications.											
128128	N	Graves` Disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064	n	Muhlberg T 1998	9678537	A2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	White European	Germany	KGB	3557	Hs.81134			European journal of endocrinology. 1998 Jun;138(6):686-90			147679	3552	1	1998	 Our data do not support an association between the IL-1RA A2 allele and Graves' disease or Graves' ophthalmopathy in our study population. Thus the A2-type IL-1RA gene polymorphism does not appear to indicate an increased susceptibility to develop Graves' disease and Graves' ophthalmopathy. Mechanisms unrelated to the IL-1RA A2 allele may be responsible for altered IL-1RA production within the orbital tissues in Graves' ophthalmopathy.	Case:144; Control:174										
128129		Lupus	IMMUNE	IMM	Lupus Erythematosus, Discoid|Lupus Erythematosus, Systemic|Photosensitivity Disorders	2	2q14.2	IL1RN	113573407	113608064		Blakemore AL 1994	7945503	2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Arthritis and rheumatism. 1994 Sep;37(9):1380-5			147679	3553	1	1994		Case:81; Control:261										
128130	N	Longevity	AGING	AGE		2	2q14.2	IL1RN	113573407	113608064	n	Wang XY 2001	11640949	VNTR			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Finnish		TJB	3557	Hs.81134			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			147679	3554	1	2001		Case:250; Control:400										
128131	N	Inflammatory Bowl Disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q14.2	IL1RN	113573407	113608064	n	Craggs A 2001	11686217	2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	European Caucasians	England	KGB	3557	Hs.81134			Scandinavian journal of gastroenterology. 2001 Nov;36(11):1173-8	Absence of a genetic association between IL-1RN and IL-1B gene polymorphisms in ulcerative colitis and Crohn disease in multiple populations from northeast England		147679	3555	1	2001	 The findings of this study lead us to reject the IL-1RN*2 association with IBD.	Control:289 racially and geographically matched healthy:controls;Case:529 northern European Caucasoid patients with IBD (347 UC, 182 CD) northern England										
128125		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	3	3q28	IL1RAP	191714584	191851995		Rocha, V.  et al. 2002	12393699				Interleukin 1 receptor accessory protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002182.2			CDC GDPinfo	3556	Hs.478673			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		602626	27498	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
128126		cytokine synthesis	IMMUNE	IMM	Yellow Fever	2	2q12	IL1RL1	102294393	102334929		Hacker, U. T.  et al. 2001	11531955				Interleukin 1 receptor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016232.4			CDC GDPinfo	9173	Hs.66			Clinical and experimental immunology. 2001 Sep;125(3):465-9	Influence of the IL-1Ra gene polymorphism on in vivo synthesis of IL-1Ra and IL-1beta after live yellow fever vaccination.		601203	11791	2	2001	This is the first study to examine the influence of this genetic polymorphism on in vivo-induced human IL-1beta and IL-1Ra synthesis. Baseline concentrations of IL-1Ra and IL-1beta were significantly influenced by the IL-1Ra polymorphism. No influence of the IL-1Ra polymorphism on the in vivo-induced production of IL-1Ra and IL-1beta could be detected.	Cohort 34 healthy volunteers 										
128127		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	2	2q12	IL1RL1	102294393	102334929		Saito, T.  et al. 2004	15063762				Interleukin 1 receptor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016232.4		Japan	CDC GDPinfo	9173	Hs.66			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		601203	28518	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
128122		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q12-q22	IL1R2	101974737	102011316		Seripa, D.  et al. 2005	15653174				Interleukin 1 receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004633.3	Caucasian	United States|Italy	CDC GDPinfo	7850	Hs.25333			Neurobiology of aging. 2005 Apr;26(4):455-64	Genotypes and haplotypes in the IL-1 gene cluster:analysis of two genetically and diagnostically distinct groups of Alzheimer patients		147811	22539	2	2005	Although ours and other published data on different samples of Caucasian and non-Caucasian AD show a great heterogeneity in the frequencies of the IL-1alpha(-889), the IL-1beta(-511) and the IL-1Ra VNTR gene polymorphisms, we confirm the role of the IL-1alpha(-889) T/T genotype as a risk factor for sporadic AD, and show the presence of an allelic association between IL-1beta C and IL-1Ra 1 alleles in both the Italian and the USA groups, confirmed by the presence of significant levels of linkage disequilibrium between these two loci.	Case sporadic Alzheimer's disease cases Italy and USA;Control controls from previously published studies										
128123		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Diseases|Periodontal Attachment Loss|Periodontitis	2	2q12-q22	IL1R2	101974737	102011316		Meisel, P.  et al. 2002	11846196				Interleukin 1 receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004633.3			CDC GDPinfo	7850	Hs.25333			Journal of periodontology. 2002 Jan;73(1):27-32	Smoking and polymorphisms of the interleukin-1 gene cluster (IL-1alpha, IL-1beta, and IL-1RN) in patients with periodontal disease.		147811	22540	2	2002	 The results provide evidence that the composite genotypes studied show interaction with smoking, the main exposition-related risk factor of periodontal disease. Non-smoking subjects are not at increased risk, even if they are genotype-positive.	Cohort 154 Caucasian subjects 	smoking (tobacco)									
128124	N	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	2	2q12-q22	IL1R2	101974737	102011316		Loke, H.  et al. 2002	12363051				Interleukin 1 receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004633.3	Vietnamese	Vietnam	CDC GDPinfo	7850	Hs.25333			The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variationin the vitamin d receptor and Fc gamma receptor IIa genes.		147811	24983	2	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
128119		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	2	2q12	IL1R1	102125677	102162766		Kornman, K. S.  et al. 2001	11887471				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		147810	28060	2	2001	Review Article											
128120		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Barton, A.  et al. 2002	11981324				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147810	28445	2	2002	Review article											
128121		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	2	2q12	IL1R1	102125677	102162766		Zee, R. Y.  et al. 2002	12082592				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147810	28606	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128116		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Cinek, O.  et al. 2004	15170937				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Czech	Czech Republic	CDC GDPinfo	3554	Hs.557403			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147810	27496	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128117		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		2	2q12	IL1R1	102125677	102162766		Trejaut, J. A.  et al. 2004	15361128				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147810	27497	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
128118		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	2	2q12	IL1R1	102125677	102162766		Helbig, K. J.  et al. 2003	12595908				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147810	27754	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
128113		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		2	2q12	IL1R1	102125677	102162766		De Capei, M. U.  et al. 2003	12558814				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		147810	27024	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
128114		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		2	2q12	IL1R1	102125677	102162766		Trajkov, D.  et al. 2005	16100774				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147810	27025	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128115		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	2	2q12	IL1R1	102125677	102162766		Forre, O.  et al. 2002	12195624				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		147810	27495	2	2002	Review article											
128110		allograft rejection, heart	IMMUNE	IMM		2	2q12	IL1R1	102125677	102162766		Vamvakopoulos, J. E.  et al. 2002	12095061				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		147810	26275	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
128111		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	2	2q12	IL1R1	102125677	102162766		Marshall, S. E.  et al. 2001	11233912				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147810	26276	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
128112		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	2	2q12	IL1R1	102125677	102162766		McCarthy, J. J.  et al. 2003	14557872				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		147810	27023	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
128106	Y	bone loss	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	2	2q12	IL1R1	102125677	102162766		Schulte, C. M.  et al. 2000	11040178				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		147810	24979	2	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
128108		schizophrenia	PSYCH	PSY	Schizophrenia	2	2q12	IL1R1	102125677	102162766		Zanardini, R.  et al. 2003	14563376				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Journal of psychiatric research. 2003 Nov-Dec;37(6):457-62	Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.		147810	24981	2	2003	Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.	Case:169 northern Italian schizophrenic patients northern Italy;Control:177 unrelated healthy volunteers										
128109		periodontitis	IMMUNE	IMM	Periodontitis	2	2q12	IL1R1	102125677	102162766		Laine, M. L.  et al. 2002	12212456				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Nederlands tijdschrift voor tandheelkunde. 2002 Aug;109(8):303-6	[Risk factors in adult periodontitis: polymorphismin the interleukin-1 gene family]		147810	24982	2	2002	This data provide evidence that polymorphisms in genes of the IL-1 family are associated with severe adult periodontitis and may be a risk factor for severe periodontitis.	Control:53 periodontal healthy controls;Case:53/52 non-smoking (n=53) and smoking patients (n=52) with severe adult periodontitis										
128103		osteoarthritis	METABOLIC	MET	Osteoarthritis	2	2q12	IL1R1	102125677	102162766		Moos, V.  et al. 2000	11083263				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Arthritis and rheumatism. 2000 Nov;43(11):2417-22	Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis.		147810	22538	2	2000	 These results point to an association between the IL-1beta polymorphism and the TNFalpha(high) phenotype and between the IL-1Ra polymorphism and the TNFalpha(low) phenotype found in OA. Both associations suggest that IL-1beta may be more important than TNFalpha for the regulation of cytokine and growth factor expression in articular chondrocytes.	Control:254 randomly chosen controls;Case:61 osteoarthritis patients										
128104		bone density	METABOLIC	MET		2	2q12	IL1R1	102125677	102162766		Otsuki, T.  et al. 2004	15375600				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			International journal of molecular medicine. 2004 Oct;14(4):669-76	Effects of genetic and nutritional factors on bone mineral density in young adults		147810	24977	2	2004	These results suggested that a complex array of genetic factors, such as two or more SNPs or SNPs and gender, may be important to BMD.	Cohort 53 healthy volunteers 										
128105		Crohn's disease	IMMUNE	IMM	Crohn Disease	2	2q12	IL1R1	102125677	102162766		Gelbmann, C. M.  et al. 2001	11742191				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			European journal of gastroenterology & hepatology. 2001 Dec;13(12):1431-7	Association of HLA-DR genotypes and IL-1ra gene polymorphism with treatment failure of budesonide and disease patterns in Crohn's disease		147810	24978	2	2001	 This is the first description of an association of a certain HLA-DR genotype (HLA-DR 8) with treatment failure in inflammatory bowel disease (IBD).	Cohort 318 patients with Crohn's disease treated with daily doses of 6, 9 or 18 mg budesonide 	budesonide									
128100		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Peng, Z.  et al. 2002	12133437				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Chinese		CDC GDPinfo	3554	Hs.557403			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Apr;41(4):248-51	[Interleukin (IL)-1beta, IL-1 receptor antagonist and IL-4 gene polymorphisms in ulcerative colitis in the Chinese]		147810	22535	2	2002	 There is correlation between the Chinese UC patients and the gene polymorphisms of intron 3 of IL-4. The gene frequency of allele RP1 in UC patients are lower, but the gene frequency of allele RP2 is significantly higher. The differences on gene frequencies of IL-4 between the UC patients and HS are mainly found in the ANCA positive UC patients. The Chinese UC patients are not associated with IL-1beta and IL-1RA gene polymorphisms.	Control:114 healthy subjects;Case:81 ulcerative colitis patients										
128101		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Hematuria|Proteinuria|Hypertension|Disease Progression	2	2q12	IL1R1	102125677	102162766		Syrjanen, J.  et al. 2002	11849463				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Kidney international. 2002 Mar;61(3):1079-85	Polymorphism of the cytokine genes and IgA nephropathy.		147810	22536	2	2002	 Carriage of IL1beta2 and IL1RN*2 together with non-carriage of TNF2 is associated with increased susceptibility, but not with a prognosis of IgAN.	Case:167 patients with IgA nephropathy;Control:400 healthy blood donor controls										
128102	Y	thryoiditis, subacute granulomatous	UNKNOWN	UNK	Thyroiditis, Subacute	2	2q12	IL1R1	102125677	102162766		Luotola, K.  et al. 2001	11506478				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			APMIS. 2001 Jun;109(6):454-60	Allele 2 of interleukin-1 receptor antagonist gene increases the risk of thyroid peroxidase antibodies in subacute thyroiditis.		147810	22537	2	2001	This study describes the multiplicity of the mechanisms responsible for the severity of the acute-phase response during the course of SAT. IL-1ra may have a significant anti-inflammatory role in SAT. Presence of IL-1ra allele 2 increases the risk of developing TPOab.	Cohort 48 subjects with subacute granulomatous tryroiditis 										
128097		kidney transplant complications	IMMUNE	IMM	Cadaver	2	2q12	IL1R1	102125677	102162766		Loucaidou, M.  et al. 2005	15919456				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Transplantation proceedings. 2005 May;37(4):1760-1	Cytokine polymorphisms do not influence acute rejection in renal transplantation under tacrolimus-based immunosuppression.		147810	22532	2	2005	 Cytokine polymorphisms did not influence acute rejection in our study. We conclude that in the modern era of immunosuppression cytokine genotyping is not a significant predictor of acute rejection in renal transplantation.											
128098	Y	sepsis	INFECTION	INF	Sepsis	2	2q12	IL1R1	102125677	102162766		Ma, P.  et al. 2002	12425801				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Zhonghua yi xue za zhi. 2002 Sep;82(18):1237-41	[Genomic polymorphism within interleukin-1 family cytokines influences the outcome of septic patients]		147810	22533	2	2002	 Allele IL-1RN2 polymorphism, but not IL-1A or IL-1B gene polymorphism, is associated with susceptibility to sepsis. Alleles A2, B2 and RN2 might be important high-risk genetic markers for sepsis.	Control normal controls;Case:60 patients with the diagnosis of sepsis who were admitted consecutively into the general intensive care unit:Peking:1997-1999										
128099	Y	coronary artery disease	CARDIOVASCULAR	CARD	Chlamydophila Infections|Coronary Disease|Myocardial Infarction	2	2q12	IL1R1	102125677	102162766		Momiyama, Y.  et al. 2001	11527622				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Journal of the American College of Cardiology. 2001 Sep;38(3):712-7	Effects of interleukin-1 gene polymorphisms on the development of coronary artery disease associated with Chlamydia pneumoniae infection.		147810	22534	2	2001	 The IL-1 gene polymorphisms were found to play a role in the development of CAD, especially MI, in patients with CP infection.	Cohort 292 patients undergoing coronary angiography 	Chlamydia pneumoniae									
128094		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Seripa, D.  et al. 2005	15653174				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Caucasian	United States|Italy	CDC GDPinfo	3554	Hs.557403			Neurobiology of aging. 2005 Apr;26(4):455-64	Genotypes and haplotypes in the IL-1 gene cluster:analysis of two genetically and diagnostically distinct groups of Alzheimer patients		147810	17730	2	2005	Although ours and other published data on different samples of Caucasian and non-Caucasian AD show a great heterogeneity in the frequencies of the IL-1alpha(-889), the IL-1beta(-511) and the IL-1Ra VNTR gene polymorphisms, we confirm the role of the IL-1alpha(-889) T/T genotype as a risk factor for sporadic AD, and show the presence of an allelic association between IL-1beta C and IL-1Ra 1 alleles in both the Italian and the USA groups, confirmed by the presence of significant levels of linkage disequilibrium between these two loci.	Case sporadic Alzheimer's disease cases Italy and USA;Control controls from previously published studies										
128095	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	2	2q12	IL1R1	102125677	102162766		Petrek, M.  et al. 2002	12412204				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Caucasian		CDC GDPinfo	3554	Hs.557403			Clinical and experimental rheumatology. 2002 Sep-Oct;20(5):701-3	CC chemokine receptor 5 and interleukin-1 receptor antagonist gene polymorphisms in patients with primary Sjogren's syndrome.		147810	22530	2	2002	 In this population of patients with Sj??n's syndrome, the frequency of CCR5 delta 32/CCR5 genotype is significantly decreased. The data suggests that carrier status for the CCR5 delta 32 allele may contribute to protection from the development of primary Sj??n's syndrome. In contrast, IL-1Ra VNTR polymorphism does not confer susceptibility to primary Sj??n's syndrome in Slovak Caucasians.	Case:39 Caucasian Slovak unrelated patients with primary Sjogren's syndrome;Control:76 Caucasian Slovak unrelated healthy controls										
128096	N	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Loke, H.  et al. 2002	12363051				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Vietnamese	Vietnam	CDC GDPinfo	3554	Hs.557403			The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variationin the vitamin d receptor and Fc gamma receptor IIa genes.		147810	22531	2	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
128091		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	2	2q12	IL1R1	102125677	102162766		Mwantembe, O.  et al. 2001	11220627				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	South African	South Africa	CDC GDPinfo	3554	Hs.557403			Immunogenetics. 2001 ;52(4-Mar):249-54	Ethnic differences in allelic associations of the interleukin-1 gene cluster in South African patients with inflammatory bowel disease (IBD) and in control individuals		147810	17727	2	2001	The population differences in allelic frequencies of the IL-1 gene cluster and IL-1Ra concentrations suggest that genetic and environmental factors play an important role in susceptibility to IBD.	Control:47 white controls;Case:50 white IBD patients										
128092	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	2	2q12	IL1R1	102125677	102162766		Cullup, H.  et al. 2001	11380474				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			British journal of haematology. 2001 Jun;113(3):807-13	Donor interleukin 1 receptor antagonist genotype associated with acute graft-versus-host disease in human leucocyte antigen-matched sibling allogeneic transplants.		147810	17728	2	2001	Thus, the donor genotype for the IL-1Ra polymorphism has an apparent protective role against acute GvHD following transplantation and may be an additional factor for individual risk assessment for complications, including GvHD, post transplant.	cohort bone marrow transplant donors cohort bone marrow transplant patients 	cyclosporine									
128093	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Zhong, L. J.  et al. 2003	14680589				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Zhonghua kou qiang yi xue za zhi. 2003 Sep;38(5):370-3	[The association between interleukin-1 receptor antagonist genotype and chronic periodontitis of Uighur patients]		147810	17729	2	2003	 IL-1RN intron 2 VNTR allele 2 may be a risk indicator for the susceptibility of severe chronic periodontitis in Uighur patients of Xinjiang.	Case:41/43/49 Uighur patients with severe chronic (n=41), moderate (n=43) and mild (n=49) periodontitis:Xinjiang;Control:92 ethnically matched healthy control individuals										
128088	Y	H. pylori infection; stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Hartland, S.  et al. 2004	15481335				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Digestive diseases and sciences. 2004 Sep;49(9):1545-50	A functional polymorphism in the interleukin-1 receptor-1 gene is associated with increased risk of Helicobacter pylori infection but not with gastric cancer.		147810	11789	2	2004	Our results suggest that the relationship among IL-1 gene polymorphism, H. pylori, and disease is more complex than initially proposed. More detailed studies of the IL-1 gene cluster are needed.	Case:191 patients attending for gastroscopy, 98 with current or previous H. pylori, an additional 79 patients with gastric cancer;Control:289 healthy controls										
128089		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Diseases|Periodontal Attachment Loss|Periodontitis	2	2q12	IL1R1	102125677	102162766		Meisel, P.  et al. 2002	11846196				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Journal of periodontology. 2002 Jan;73(1):27-32	Smoking and polymorphisms of the interleukin-1 gene cluster (IL-1alpha, IL-1beta, and IL-1RN) in patients with periodontal disease.		147810	11790	2	2002	 The results provide evidence that the composite genotypes studied show interaction with smoking, the main exposition-related risk factor of periodontal disease. Non-smoking subjects are not at increased risk, even if they are genotype-positive.	Cohort 154 Caucasian subjects 	smoking (tobacco)									
128090	Y	bone mass	METABOLIC	MET	Osteoporosis, Postmenopausal|Disease Susceptibility	2	2q12	IL1R1	102125677	102162766		Fontova, R.  et al. 2002	12240899				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2		Mediterranean Region	CDC GDPinfo	3554	Hs.557403			Journal of endocrinological investigation. 2002 Sep;25(8):684-90	Bone mineral mass is associated with interleukin 1 receptor autoantigen and TNF-alpha gene polymorphisms in post-menopausal Mediterranean women.		147810	11859	2	2002	We conclude that  both IL-1ra and TNF-alpha can be candidate loci to be studied in the susceptibility to develop post-menopausal osteoporosis.	Case:104 post-menopausal osteoporotic women (58.6+/-4.8 yr);Control:51 post-menopausal women without osteoporosis		IL-1ra	A2+	TNF-alpha	GG			Y		Bone mineral mass in post-menopausal Mediterranean women
128085	Y	diabetes, type 1; IL-1RI	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q12	IL1R1	102125677	102162766		Bergholdt, R.  et al. 2000	11197691			promoter	Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Genes and immunity. 2000 Dec;1(8):495-500	Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation toIL-1RI plasma level.		147810	11785	2	2000	In both diabetic and non-diabetic subjects, the wt/wt genotype correlated with the highest IL-1RI plasma level, whereas the plasma levels were lowest for the mt/mt genotype.	Case:30 type 1 diabetic patients;Control:30 control subjects										
128086	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		McGarry, F.  et al. 2001	11752505				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			Rheumatology (Oxford, England). 2001 Dec;40(12):1359-64	A polymorphism within the interleukin 1 receptor antagonist (IL-1Ra) gene is associated with ankylosing spondylitis.		147810	11787	2	2001	 This report of an association with a polymorphic site within the IL-1 locus and AS suggests that genes other than B27 may well be involved in the pathogenesis of AS.	Control:115 healthy controls;Case:188 ankylosing spondylitis patients West of Scotland;Control:81 HLA-B27-positive healthy controls										
128087	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	2	2q12	IL1R1	102125677	102162766		Watanabe, M.  et al. 2002	12138282				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Japanese		CDC GDPinfo	3554	Hs.557403			Nephron. 2002 Aug;91(4):744-6	Association of interleukin-1 receptor antagonist gene polymorphism with IgA nephropathy.		147810	11788	2	2002	Our results suggest that IL-1ra polymorphisms are not associated with the development of IgAN in Japanese patients but the presence of IL1RN*2 may be associated with increased disease activity.	Case:106 patients with IgA nephropathy;Control:74 normal controls										
128081		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q12	IL1R1	102125677	102162766		Bergholdt R 2004	8580383				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Danish		Y Wang	3554	Hs.557403			Cytokine. 1995 Oct;7(7):727-33	Characterization of polymorphisms of an interleukin 1 receptor type 1 gene (IL1RI) promotor region (P2) and their relation to insulin-dependent diabetes mellitus (IDDM). The Danish Study Group of Diabetes in Childhood		147810	3548	1	2004												
128083		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	2	2q12	IL1R1	102125677	102162766		Pociot F 2004	7605869				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Danish	Denmark	Y Wang	3554	Hs.557403			Autoimmunity. 1994 ;19(3):169-78	Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood		147810	3550	1	2004												
128084	Y	Bone mineral mass	METABOLIC	MET	Osteoporosis, Postmenopausal|Disease Susceptibility	2	2q12	IL1R	102125677	102162766		Fontova R et al. 2002	12240899				interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M27492		Mediterranean Region	KGB	3554	Hs.557403			Journal of endocrinological investigation. 2002 Sep;25(8):684-90	Bone mineral mass is associated with interleukin 1 receptor autoantigen and TNF-alpha gene polymorphisms in post-menopausal Mediterranean women.		147810	3551	1	2002	We conclude that  both IL-1ra and TNF-alpha can be candidate loci to be studied in the susceptibility to develop post-menopausal osteoporosis.											
128077		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Saito, T.  et al. 2004	15063762				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Japan	CDC GDPinfo	3553	Hs.126256			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		147720	28500	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
128078		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	2	2q14	IL1B	113303807	113310827		Zee, R. Y.  et al. 2002	12082592				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147720	28600	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
128079	N	Total IgE	IMMUNE	IMM	Asthma	2	2q12	IL1R1	102125677	102162766	n	Mao X 2000	11027520	T131C			Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Japanese		KGB	3554	Hs.557403			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12	Imbalance production between interleukin-1beta (IL-1beta) and IL-1 receptor antagonist (IL-1Ra) in bronchial asthma.		147810	3546	1	2000												
128080	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	2	2q12	IL1R1	102125677	102162766		Metcalfe KA et al. 1996	8911996				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			KGB	3554	Hs.557403			Human immunology. 1996 Nov;51(1):41-8	An association between type 1 diabetes and the interleukin-1 receptor type 1 gene. The DiMe Study Group. Childhood Diabetes in Finland.		147810	3547	1	1996												
128074	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Donaldson, P. T.  et al. 2002	12100571				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		147720	28059	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
128075		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Barton, A.  et al. 2002	11981324				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147720	28414	2	2002	Review article											
128076		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	2	2q14	IL1B	113303807	113310827		Navarro-Lopez, F.   2002	11975906				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		147720	28443	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
128070		graft versus host disease	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Daly, A. K.  et al. 2002	12083951				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147720	27493	2	2002	Review article											
128071		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Martin, A. M.  et al. 2003	14566095				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147720	27494	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
128072		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1B	113303807	113310827		Kornman, K. S.  et al. 2001	11887471				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		147720	27935	2	2001	Review Article											
128073		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	2	2q14	IL1B	113303807	113310827		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		147720	27936	2	2002	Review article											
128067		Parkinson's disease	NEUROLOGICAL	NEUR		2	2q14	IL1B	113303807	113310827		Nishio, K.  et al. 2004	15279067				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		147720	27490	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
128068		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	2	2q14	IL1B	113303807	113310827		Helbig, K. J.  et al. 2003	12595908				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147720	27491	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
128069		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	2	2q14	IL1B	113303807	113310827		Kim, M. S.  et al. 2004	15220553				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		147720	27492	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
128064		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Cinek, O.  et al. 2004	15170937				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Czech	Czech Republic	CDC GDPinfo	3553	Hs.126256			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147720	27020	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
128065		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		2	2q14	IL1B	113303807	113310827		Trejaut, J. A.  et al. 2004	15361128				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147720	27021	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
128066		celiac disease	IMMUNE	IMM	Celiac Disease	2	2q14	IL1B	113303807	113310827		Rueda, B.  et al. 2005	16078996				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		147720	27022	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
128060		disc degeneration	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Solovieva, S.  et al. 2005	16133074				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			European spine journal. 2005	Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.		147720	27016	2	2005												
128061		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			16324093				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Italy	CDC GDPinfo	3553	Hs.126256			European journal of neurology. 2005 Dec;12(12):989-93	A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study		147720	27017	2	2005												
128062		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Festa, F.  et al. 2005	15914210				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		147720	27018	2	2005												
128063		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	2	2q14	IL1B	113303807	113310827		Forre, O.  et al. 2002	12195624				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		147720	27019	2	2002	Review article											
128056		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1B	113303807	113310827			16389181				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		147720	26271	2	2006												
128057		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	2	2q14	IL1B	113303807	113310827		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147720	26272	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
128059	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Bushley, A. W.  et al. 2004	15581980				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gynecologic oncology. 2004 Dec;95(3):672-9	Polymorphisms of interleukin (IL)-1alpha, IL-1beta, IL-6, IL-10, and IL-18 and the risk of ovarian cancer.		147720	26274	2	2004	 Overall, this study does not support an association of selected IL-1alpha, IL-1beta, IL-6, IL-10, or IL-18 polymorphisms with the risk for ovarian cancer. However, the IL-18 G137C variant may be a marker for ovarian cancer progression or metastasis.	Case:182 epithelial ovarian cancer cases;Control:219:controls										
128053		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Donaldson, P.  et al. 2001	11171832				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gut. 2001 Mar;48(3):397-402	HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with diseaseprogression and disease susceptibility.		147720	26268	2	2001	 These data indicate a complex relationship between immunoregulatory genes and PBC. While the IL-1 genes are markers of both disease susceptibility and progression, HLA genes appear to be principally associated with disease progression.	Cohort 164 well characterised chirrhosis patients 										
128054	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	2	2q14	IL1B	113303807	113310827		Volzke, H.  et al. 2004	12899665				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		147720	26269	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
128055		subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	2	2q14	IL1B	113303807	113310827		Ruigrok, Y. M.  et al. 2005	15726267				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		147720	26270	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
128050		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	2	2q14	IL1B	113303807	113310827		Marshall, S. E.  et al. 2001	11233912				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147720	24974	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
128051		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Pereira, N. F.  et al. 2004	15566952				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		147720	24975	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
128052		silicosis	IMMUNE	IMM	Silicosis	2	2q14	IL1B	113303807	113310827		Yucesoy, B.  et al. 2001	11241561				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			American journal of industrial medicine. 2001 Mar;39(3):286-91	Polymorphisms of the IL-1 gene complex in coal miners with silicosis		147720	24976	2	2001	 This is the first report showing an association between the IL-1RA (+ 2018) polymorphism and silicosis, and suggests that this polymorphism may confer increased risk for the development of the disease.	Control:163 controls without any apparent inflammation or other pulmonary disease;Case:318 Caucasian cases confirmed histopathologically with pulmonary silicosis										
128047		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1B	113303807	113310827		Hayes, A.  et al. 2004	15377701				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of neurology, neurosurgery, and psychiatry. 2004 Oct;75(10):1475-7	A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease.		147720	24971	2	2004	 Polymorphisms within IL-1A influence the degree of brain microglial cell activation, especially in bearers of APOE epsilon4 allele, reinforcing the importance of neuroinflammatory processes in the pathogenesis of AD, and supporting the rationale for treating the disease with inflammation modulating drugs.	Cohort 68 patients with necropsy confirmed Alzheimer's disease 										
128048	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1B	113303807	113310827		Bosco, P.  et al. 2004	15201366				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Italy	CDC GDPinfo	3553	Hs.126256			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		147720	24972	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
128049		spinal ossification	UNKNOWN	UNK	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Ogata, N.  et al. 2002	12195069				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Japan	CDC GDPinfo	3553	Hs.126256			Spine. 2002 Aug;27(16):1765-71	Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity		147720	24973	2	2002	 The contribution of genetic backgrounds is likely to be stronger in women than in men with ossification of the posterior longitudinal ligament of the spine. Estrogen receptor polymorphism was associated with both initiation and promotion of the disorder, but interleukin-1beta polymorphism was associated only with its initiation in women.	Case:120 patients (77 men and 43 women) with ossification of the posterior longitudinal ligament of the spine;Control:306 ontrol subjects without the disorder (166 men and 140 women)										
128044		hepatitis C; longevity	INFECTION	INF		2	2q14	IL1B	113303807	113310827		Pyo, C. W.  et al. 2003	14522096				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Korean		CDC GDPinfo	3553	Hs.126256			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147720	24968	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
128045		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Gastritis, Atrophic|Metaplasia	2	2q14	IL1B	113303807	113310827		Rad, R.  et al. 2004	15247172				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gut. 2004 Aug;53(8):1082-9	Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection.		147720	24969	2	2004	 Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and the long term development of precancerous lesions in H pylori infection. Host polymorphisms are associated with certain bacterial strain types, suggesting host specific colonisation or adaptation. These findings contribute to the understanding of the complex interplay between host and bacterial factors involved in the development of gastric pathology.	Cohort 207 H pylori infected patients with chronic gastritis 										
128046		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Howell, W. M.  et al. 2003	14675394				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		147720	24970	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
128040		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	2	2q14	IL1B	113303807	113310827		Nishimura, M.  et al. 2003	12651071				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		147720	24964	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
128042		allograft rejection, heart	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Vamvakopoulos, J. E.  et al. 2002	12095061				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		147720	24966	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
128043		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Nguyen, D. P.  et al. 2004	15292002				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		147720	24967	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
128036		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Brett, P. M.  et al. 2005	16304445				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of dental research. 2005 Dec;84(12):1149-53	Functional Gene Polymorphisms in Aggressive and Chronic Periodontitis.		147720	22528	2	2005												
128038		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q14	IL1B	113303807	113310827		Frossard, P. M.  et al. 2002	12009575				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		United Arab Emirates	CDC GDPinfo	3553	Hs.126256			Molecular immunology. 2002 May;38(13-Dec):969-76	A study of five human cytokine genes in human essential hypertension		147720	24962	2	2002	However, although they do not reach statistical significance (which may be due to the relatively restricted number of subjects included in this study), the distribution differences (in normotensives and hypertensives) observed in the cases of EGF and TNF-alpha reflect trends that could be expected from a mechanistic explanation of the pathways that underlie the patho-physiology of hypertension.	Case:81:hypertensives Abu Dhabi Emirate;Control:93:normotensives										
128039		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Pandey, J. P.  et al. 2002	12039524				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Human immunology. 2002 Jun;63(6):485-91	TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis.		147720	24963	2	2002	As KM genes have been reported to be associated with immune responsiveness to several pathogens, these results may be relevant to the etiology of sarcoidosis.	Case African-American patients without erythema nodosum;Control:controls										
128032		lymphoma, malignant	CANCER	CAN	Lymphoma	2	2q14	IL1B	113303807	113310827		Matsuo, K.  et al. 2001	11423389				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Haematologica. 2001 Jun;86(6):602-8	No substantial difference in genotype frequencies of interleukin and myeloperoxidase polymorphisms between malignant lymphoma patients and non-cancer controls.		147720	22524	2	2001	 Our data show a limited association between these polymorphisms and malignant lymphoma risk in total. The possible association of the IL-1A and IL-1B polymorphisms with DLB-needs further clarification.	Control:241 non-cancer control subjects:Japan;Case:372 lymphoma cases:Japan										
128033		H. pylori infection	INFECTION	INF		2	2q14	IL1B	113303807	113310827		Matsuo, K.  et al. 2003	12729191				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Epidemiology and infection. 2003 Apr;130(2):227-33	Smoking and polymorphisms of fucosyltransferase gene Le affect success of H. pylori eradication with lansoprazole, amoxicillin, and clarithromycin		147720	22525	2	2003	Although further clarification is necessary, our study indicated that smoking cessation and Le gene polymorphisms may affect the success rate of HP eradication.	Cohort 142 patients with H. pylori infection Japan 	amoxycillin clarithromycin lansoprazole smoking (tobacco)									
128035		periodontal disease	IMMUNE	IMM	Periodontitis|Inflammation	2	2q14	IL1B	113303807	113310827		D'Aiuto, F.  et al. 2004	15341923				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Cytokine. 2004 Oct;28(1):29-34	Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections		147720	22527	2	2004	These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.	Cohort 94 subjects with periodontitis 										
128029		sepsis	INFECTION	INF		2	2q14	IL1B	113303807	113310827		Yang, M. S.  et al. 2005	15836820				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Zhongguo wei zhong bing ji jiu yi xue. 2005 Apr;17(4):203-6	[Association of different alleles in interleukin-1 family genes with the coded cytokines production and outcome of sepsis]		147720	22521	2	2005	 IL-1RN2 allele induces high IL-1ra expression and is closely with the outcome of patients in sepsis. It could be one of high risk genetic factors in septic patients.	Control healthy volunteers;Case sepsis patients										
128030	Y	atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Pessi, T.  et al. 2003	12746420				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Finnish	Finland	CDC GDPinfo	3553	Hs.126256			Journal of medical genetics. 2003 May;40(5):e66	A common IL-1 complex haplotype is associated with an increased risk of atopy.	1143634	147720	22522	2	2003	We conclude that the IL1a*1/IL1B*1/IL1RN*2 haplotype contains the decisive allale or allele combinations which increase the risk of atopy.	Cohort 254/151 females (n=254) and males (n=151) who were the controls of a Finnish population based case-control study. 			1a*1/1B*1/1RN*2 haplotype					Y		
128031		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	2	2q14	IL1B	113303807	113310827		Genevay, S.  et al. 2002	12115161				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147720	22523	2	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
128026		vulvar cancer	CANCER	CAN	Carcinoma, Squamous Cell|Vulvar Neoplasms|Cell Transformation, Neoplastic	2	2q14	IL1B	113303807	113310827		Grimm, C.  et al. 2004	14984963				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gynecologic oncology. 2004 Mar;92(3):936-40	A polymorphism of the interleukin-1 receptor antagonist plays a prominent role within the interleukin-1 gene cluster in vulvar carcinogenesis.		147720	22518	2	2004	 We are the first to report on polymorphisms in genes encoding cytokines in patients with vulvar cancer. Reflecting its biological role, the common IL1RN intron 2 polymorphism seems to play a prominent role within the IL-1 gene cluster with respect to vulvar carcinogenesis.	Control:228 healthy Caucasian controls;Case:68 patients with surgically treated vulvar cancer										
128027		dysthymia	OTHER	OTH	Genetic Predisposition to Disease|Dysthymic Disorder	2	2q14	IL1B	113303807	113310827		Fertuzinhos, S. M.  et al. 2004	14997019				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Brazil	CDC GDPinfo	3553	Hs.126256			Journal of molecular neuroscience. 2004 ;22(3):251-6	Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.		147720	22519	2	2004	These results suggest that these polymorphisms might confer a greater susceptibility to develop dysthymia in Brazilian patients. However, to validate these data it will be of great interest to repeat this study in larger samples and other ethnic groups.	Case:59 dysthymic patients:Brazil;Control:69 normal controls										
128028	Y	hypertension	CARDIOVASCULAR	CARD		2	2q14	IL1B	113303807	113310827		Li, Y.  et al. 2004	15476179				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):491-3	[Study on the polymorphism of interleukin-1 gene and the susceptibility to essential hypertension]		147720	22520	2	2004	 The polymorphism of promotor region -511C/T in IL-1beta gene is probably associated with the susceptibility to essential hypertension.	Case:152 patients with essential hypertension;Control:168 healthy controls										
128023		periodontitis	IMMUNE	IMM	Periodontitis	2	2q14	IL1B	113303807	113310827		Laine, M. L.  et al. 2002	12212456				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Nederlands tijdschrift voor tandheelkunde. 2002 Aug;109(8):303-6	[Risk factors in adult periodontitis: polymorphismin the interleukin-1 gene family]		147720	22515	2	2002	This data provide evidence that polymorphisms in genes of the IL-1 family are associated with severe adult periodontitis and may be a risk factor for severe periodontitis.	Control:53 periodontal healthy controls;Case:53/52 non-smoking (n=53) and smoking patients (n=52) with severe adult periodontitis										
128024	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q14	IL1B	113303807	113310827		Lin, R. C.  et al. 2002	11840488				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Australia	CDC GDPinfo	3553	Hs.126256			American journal of medical genetics. 2002 Feb;107(4):311-6	Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension.		147720	22516	2	2002	In conclusion, no association of the IL1B C([minus sign][?]31)T with HT was found, whereas combined frequency of the minor alleles of the IL1RN polymorphism was increased in the HT cohort studied	Cohort white Anglo-Celtic individuals Sydney, Australia 										
128025	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Joki-Erkkila, V. P.  et al. 2003	14533660				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Annals of allergy, asthma & immunology. 2003 Sep;91(3):275-9	Allergic rhinitis and polymorphisms of the interleukin 1 gene complex.		147720	22517	2	2003	 The IL-1 gene complex polymorphism is strongly associated with allergic rhinitis in nonasthmatic individuals.	Cohort 405 nonasthmatic individuals of whom 56 had allergic rhinitis 										
128019		periodontitis	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Li, Q. Y.  et al. 2005	16155691				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Shanghai kou qiang yi xue. 2005 Aug;14(4):333-7	[Interleukin-1 polymorphisms in patients with aggressive periodontitis]		147720	22511	2	2005	 The IL-1A +4845 polymorphism may be associated with AgP susceptibility in Chinese males.											
128020		alopecia areata	IMMUNE	IMM	Alopecia Areata	2	2q14	IL1B	113303807	113310827		Tazi-Ahnini, R.  et al. 2001	11703512				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Heredity. 2001 Aug;87(Pt 2):215-9	Association analysis of IL1A and IL1B variants in alopecia areata		147720	22512	2	2001	The results suggested the possibility of an association with IL1A+4845 in the overall dataset [OR 1.39 (95% CI 1.00, 1.93)] although this was not statistically significant. This was due mainly to the contribution from mild cases of alopecia areata [OR 1.48 (0.96, 2.29)], suggesting that IL-1alpha may have a particular role in the pathogenesis of this subgroup.	Control:1150 matched controls;Case:165 alopecia areata patients										
128021		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Tooth Loss|Chronic Disease	2	2q14	IL1B	113303807	113310827		Greenstein, G.  et al. 2002	11895290				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of periodontology. 2002 Feb;73(2):231-47	A critical assessment of interleukin-1 (IL-1) genotyping when used in a genetic susceptibility test for severe chronic periodontitis.		147720	22513	2	2002	 There are many unanswered questions concerning the utility of detecting allele 2 at the IL-1A+4845 and IL-IB+3954 loci to foretell which patients will develop severe chronic periodontitis. Therefore, clinicians must cautiously interpret results obtained with the commercially available genetic susceptibility test before they alter maintenance schedules or treatment regimens of symptomatic or asymptomatic patients.	Cohort test (genotype-positive) and control groups (genotype-negative) from controlled clinical trials 										
128016		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Zhong, L.  et al. 2002	12362317				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese	China	CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):405-8	[The association of interleukin-1 gene polymorphisms with the susceptibility to chronic periodontitis in Uighur]		147720	22508	2	2002	 These results suggest that IL-1B+3953 allele 2 may be a risk indicator for the susceptibility to severe chronic periodontitis in Uighur minority in Xingjiang of China.	Case:41/42/49 severe chronic periodontitis (CP) patients (n=41), moderate CP patients (n=42), mild CP patients:(n=49):Xingjiang, China;Control:92 healthy controls										
128017		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Huang, H. Y.  et al. 2004	15562658				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Hua xi kou qiang yi xue za zhi. 2004 Oct;22(5):415-9	[Investigation on the association of interleukin-1 genotype polymorphism with chronic periodontitis]		147720	22509	2	2004	 Findings from this study bring into question the usefulness of the genotypes of allele 2 of IL-1A-889, IL-1B-511 and IL-1B + 3953 as a method for determining the susceptibility of Chinese patients to chronic periodontitis. There is a possible role of IL-1 gene polymorphisms in the susceptibility to chronic periodontitis for some patients.	Case:182 Han Chinese chronic periodontitis cases;Control:89 periodontal healthy controls										
128018	Y	periodontitis	IMMUNE	IMM	Periodontitis|Acute Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Li, Q. Y.  et al. 2004	15732864				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese	China	CDC GDPinfo	3553	Hs.126256			Journal of periodontology. 2004 Dec;75(12):1627-35	Association analysis between interleukin-1 family polymorphisms and generalized aggressive periodontitis in a Chinese population.		147720	22510	2	2004	 The polymorphisms of IL-1A +4845 and IL-1B -511 may play an important role in determining GAgP susceptibility in Chinese males. Furthermore, a possible combined effect of the polymorphism of IL-1B -511 and smoking on GAgP susceptibility was suggested.	Case:122 Chinese patients with aggressive periodontitis;Control:95 healthy subjects										
128013	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Niino, M.  et al. 2001	11498264				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	CDC GDPinfo	3553	Hs.126256			Journal of neuroimmunology. 2001 Aug;118(2):295-9	Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients.		147720	22505	2	2001	Together, our findings suggest that IL-1beta or IL-1ra gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS.	Control:104 healthy controls;Case:98 MS patients:Japan										
128014		periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Dental Plaque|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Cullinan, M. P.  et al. 2001	11737511				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Australia	CDC GDPinfo	3553	Hs.126256			Journal of clinical periodontology. 2001 Dec;28(12):1137-44	A longitudinal study of interleukin-1 gene polymorphisms and periodontal disease in a general adult population		147720	22506	2	2001	 The results of this study have shown an interaction of the IL-1 positive genotype with age, smoking and P. gingivalis which suggests that IL-1 genotype is a contributory but non-essential risk factor for periodontal disease progression in this population.	Cohort 295 subjects from an ongoing study of the Oral Care Research Programme of The University of Queensland 	smoking (tobacco)									
128015		Alzheimer's disease; Abeta load	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1B	113303807	113310827		Green, E. K.  et al. 2002	12034804				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Neurology. 2002 May;58(10):1566-8	Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD?		147720	22507	2	2002	No evidence was found of risk for AD with these variants, nor of an effect on age at onset. However, an impact of IL-1B(-511) on Abeta(40) load (p < 0.05) was detected.											
128010		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	2	2q14	IL1B	113303807	113310827		Freeman, B. D.  et al. 2002	12411588				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		147720	22502	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
128011		asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Bown, M. J.  et al. 2005	15787640				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			International journal of immunogenetics. 2005 Apr;32(2):83-90	A comparison of methods for determining genotypes at the tumour necrosis factor-alpha-308, interleukin (IL)-1beta+3953, IL-6 -174 and IL-10 -1082/-819/-592 polymorphic loci.		147720	22503	2	2005	IHG is a valid method for the determination of genotypes at the loci examined in this study and produces comparable results to those of more traditional methods of genotyping.	Cohort 90 patients consenting to participate in the study 										
128012		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2q14	IL1B	113303807	113310827		McCarron, S. L.  et al. 2002	12067976				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Cancer research. 2002 Jun;62(12):3369-72	Influence of cytokine gene polymorphisms on the development of prostate cancer.		147720	22504	2	2002	These results suggest that single nucleotide polymorphisms associated with differential production of IL-8, IL-10, and VEGF are risk factors for PC, possibly acting via their influence on angiogenesis.	Case:247 prostate cancer patients;Control:263:controls										
128007		stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14	IL1B	113303807	113310827		Lu, W.  et al. 2004	15579481				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Carcinogenesis. 2005 Mar;26(3):631-6	Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population.		147720	22499	2	2004	These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population.	Case:250 incident cases with gastric cancer Northern China;Control:300:controls										
128008	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14	IL1B	113303807	113310827		Garza-Gonzalez, E.  et al. 2003	15127646				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Mexican	Mexico	CDC GDPinfo	3553	Hs.126256			Rev Gastroenterol Mex. 2003 Apr-Jun;68(2):107-12	[Role of polymorphism of certain cytokines in gastric cancer in Mexico. Preliminary results]		147720	22500	2	2003	 The results of this preliminary study confirm that the pro-inflammatory IL-1B genotypes, as well as male gender, are risk factors for development of gastric cancer in Mexican population.	Control:25 ethnically matched healthy controls (mean age =:39.9, F/M = 3.12);Case:33 unrleated Mexican patients with histologically confirmed gastric cancer (n = 25) or high-grade dysplasia (n = 8) (mean age 62.7, F/M = 0.37):Mexico										
128009		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Smith, K. C.  et al. 2004	15265021				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		147720	22501	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
128004		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Howell, W. M.  et al. 2005	15917409				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		147720	22496	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
128005		schizophrenia	PSYCH	PSY	Schizophrenia	2	2q14	IL1B	113303807	113310827		Zanardini, R.  et al. 2003	14563376				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of psychiatric research. 2003 Nov-Dec;37(6):457-62	Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.		147720	22497	2	2003	Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.	Case:169 northern Italian schizophrenic patients northern Italy;Control:177 unrelated healthy volunteers										
128006	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	2	2q14	IL1B	113303807	113310827		Fan, L. Y.  et al. 2004	15562761				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Oct;26(5):505-9	[Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population]		147720	22498	2	2004	 The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC, and the polymorphisms of IL-1 +3953 and IL-10 promoter gene are not associated with PBC in a Chinese population.	Control:160 healthy controls;Case:77 patients with primary biliary cirrhosis										
128001		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Peptic Ulcer|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Furuta, T.  et al. 2004	15017629				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Clinical gastroenterology and hepatology. 2004 Jan;2(1):22-30	Polymorphism of interleukin-1beta affects the eradication rates of Helicobacter pylori by triple therapy.		147720	22493	2	2004	 IL-1beta-511 polymorphism is one of the determinants of successful eradication of H. pylori using triple therapy with a PPI, amoxicillin, and clarithromycin, together with CYP2C19 genotype and bacterial resistance to clarithromycin.	Cohort 336 patients infected with H. pylori 	amoxycillin clarithromycin lansoprazole omeprazole									
128002		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Chen, C. C.  et al. 2005	16172101				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		147720	22494	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
128003		spondylosis, lumbar	UNKNOWN	UNK	Spinal Osteophytosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			16362385				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			European spine journal. 2005	Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women		147720	22495	2	2005	ER and VDR genes may contribute to lumbar spondylosis in a distinct manner: estrogen sensitivity influences the severity in the early phase after menopause while vitamin D plays an important role at older ages when the contribution of estrogen loss is weaker.											
127996		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	2	2q14	IL1B	113303807	113310827		Hefler, L. A.  et al. 2002	11756575				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Molecular human reproduction. 2002 Jan;8(1):95-100	Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage.		147720	22488	2	2002	Despite promising experimental data, our data fall short of showing any significant association between a variant of the promoter region of IL1B, the M235T polymorphism of Agt, and the Glu298Asp missense variant of Nos3 and the occurrence of IRM.	Case:130 women with a history of idiopathic recurrent:miscarriage;Control:67 healthy control women										
127998		appendicitis	INFECTION	INF	Appendicitis|Acute Disease	2	2q14	IL1B	113303807	113310827		Rivera-Chavez, F. A.  et al. 2004	15273551				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Annals of surgery. 2004 Aug;240(2):269-77	Innate immunity genes influence the severity of acute appendicitis.		147720	22490	2	2004	 Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.	Cohort 134 patients with acute appendicitis treated at an urban hospital 										
127999		C-reactive protein	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Eklund, C.  et al. 2005	16026589				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			International journal of immunogenetics. 2005 Aug;32(4):229-32	Epistatic effect of C-reactive protein (CRP) single nucleotide polymorphism (SNP) +1059 and interleukin-1B SNP +3954 on CRP concentration in healthy male blood donors.		147720	22491	2	2005												
127993	Y	inflammatory bowel disease; bone density	METABOLIC	MET	Osteoporosis|Inflammatory Bowel Diseases	2	2q14	IL1B	113303807	113310827		Nemetz, A.  et al. 2001	11600466				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gut. 2001 Nov;49(5):644-9	Allelic variation at the interleukin 1beta gene is associated with decreased bone mass in patients with inflammatory bowel diseases.		147720	17724	2	2001	 Our results suggest that genetic variability may be a major determinant of bone loss in IBD. Carriers of IL1B-511*2, who are hypersecretors of IL-1beta, have a higher risk of presenting with low bone mass in IBD. Screening for this allele may contribute to determination of the risk of bone loss at the time of disease onset.	Control:58 healthy controls (HC; 28 men/30 women; 32.4 (1.2):years);Case:75 inflammatory bowel disease patients (34 men/41:women; 40.3 (1.6) years)										
127994	Y	stomach cancer; gastritis	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	2	2q14	IL1B	113303807	113310827		Machado, J. C.  et al. 2003	12891537				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		147720	17725	2	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:221/287 individuals with chronic gastritis (n=221) and gastric carcinoma patients (n=287)										
127995		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	2	2q14	IL1B	113303807	113310827		Wang, Z. C.  et al. 2005	16253969				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Human reproduction (Oxford, England). 2005	Maternal CD46H*2 and IL1B-511*1 homozygosity in T helper 1-type immunity to trophoblast antigens in recurrent pregnancy loss.		147720	18203	2	2005	 The combination of homozygosity for both IL1B-511*1 and CD46H*2 alleles is a high risk factor for RPL-Th1(+).			CD46H	2	IL123B	5123123*123			Y		Recurreny pregnancy loss
127990	Y	lymphoma	CANCER	CAN	Lymphoma|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone	2	2q14	IL1B	113303807	113310827		Wu, M. S.  et al. 2004	15146559			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			International journal of cancer. Journal international du cancer. 2004 Jul;110(5):695-700	Promoter polymorphisms of tumor necrosis factor-alpha are associated with risk of gastric mucosa-associated lymphoid tissue lymphoma.		147720	14414	2	2004	We concluded that TNF-alpha -857 T itself or a neighboring gene may modify the risk of maltoma. The differences in genetic background as well as divergent clinicopathologic features between GAC and maltoma support the notion that fundamental mechanistic differences exist in these 2 well-defined H. pylori-related malignancies.	Control:210 unrelated healthy controls;Case:70/204 patients with maltoma (n=70) and patients with noncardia GAC (n=204)										
127991	N	meningococcal disease	INFECTION	INF	Meningococcal Infections	2	2q14	IL1B	113303807	113310827		Read, R. C.  et al. 2000	11023482				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The Journal of infectious diseases. 2000 Nov;182(5):1557-60	An interleukin-1 genotype is associated with fatal outcome of meningococcal disease.		147720	17722	2	2000	There was no association between TNF genotype and fatal outcome. These data suggest that IL-1 genotype influences the severity of meningococcal disease.	Cohort 276 white patients 4-70 years of age (median, 17 years) 										
127992		osteoarthritis	METABOLIC	MET	Osteoarthritis	2	2q14	IL1B	113303807	113310827		Moos, V.  et al. 2000	11083263				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Arthritis and rheumatism. 2000 Nov;43(11):2417-22	Association of genotypes affecting the expression of interleukin-1beta or interleukin-1 receptor antagonist with osteoarthritis.		147720	17723	2	2000	 These results point to an association between the IL-1beta polymorphism and the TNFalpha(high) phenotype and between the IL-1Ra polymorphism and the TNFalpha(low) phenotype found in OA. Both associations suggest that IL-1beta may be more important than TNFalpha for the regulation of cytokine and growth factor expression in articular chondrocytes.	Control:254 randomly chosen controls;Case:61 osteoarthritis patients										
127986	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q14	IL1B	113303807	113310827		Pawlik, A.  et al. 2005	15895884	( -330)		promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Clinical and experimental rheumatology. 2005 Mar-Apr;23(2):159-64	IL1beta+3953 exon 5 and IL-2 -330 promoter polymorphisms in patients with rheumatoid arthritis.		147720	11814	2	2005	 We suggest that exon 5 +3953 IL1beta and IL-2 -330 promoter polymorphisms may be a genetic risk factor for RA severity.	Control:controls;Case:93 patients with rheumatoid arthritis diagnosed according to the criteria of American College of:Rheumatology		exon 5 +3953 IL1beta		IL-2	330 promoter			Y		rheumatoid arthritis
127987		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Wu, S. F.  et al. 2005	15900570				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Taiwan	CDC GDPinfo	3553	Hs.126256			Journal of clinical laboratory analysis. 2005 ;19(3):99-102	Association of IL-1Ra gene polymorphism, but no association of IL-1beta and IL-4 gene polymorphisms, with Kawasaki disease.		147720	11907	2	2005	The genotype I/II for IL1-Ra and the frequency of allele II for IL1-Ra are associated with a higher susceptibility to KD, and thus may be useful markers for predicting the development of KD.	Control:103 normal controls;Case:107 Kawasaki disease patients										
127988	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Nohara, H.  et al. 2002	12572877				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	CDC GDPinfo	3553	Hs.126256			Journal of gastroenterology. 2002 Nov;37 Suppl 14:107-10	Polymorphisms of the IL-1beta and IL-1beta-inducible genes in ulcerative colitis.		147720	12704	2	2002	 No association of the IL-1beta and three IL-1beta-inducible gene polymorphisms with UC was observed in a Japanese population.	Control:106 ethnically matched controls;Case:96 Japanese patients with ulcerative colitis										
127982	N	stomach cancer	CANCER	CAN	Stomach Neoplasms	2	2q14	IL1B	113303807	113310827		Hu, S.  et al. 2004	15485792				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Di yi jun yi da xue xue bao. 2004 Oct;24(10):1171-3	[Association of interleukin-1 gene polymorphism with gastric cancer in a high-risk area of China.]		147720	11779	2	2004	 IL-1 gene polymorphism may be not associated with the risk of gastric cancer in this high-risk area.	Control:169 normal subjects;Case:86 gastric cancer patients Shaanxi Province, China										
127983	N	malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Ohashi, J.  et al. 2005	16098232	IL1B -31C>T		promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Thai		CDC GDPinfo	3553	Hs.126256			Malaria journal [electronic resource]. 2005 Aug;4:38	A functional polymorphism in the IL1B gene promoter, IL1B -31C>T, is not associated with cerebral malaria in Thailand.		147720	11781	2	2005	 The present results suggest that IL1B -31C>T and IL1RA VNTR polymorphisms do not play a crucial role in susceptibility or resistance to cerebral malaria.											
127984		Paget disease of bone	OTHER	OTH	Osteitis Deformans	2	2q14	IL1B	113303807	113310827		Corral-Gudino, L.  et al. 2005	16257277	(-511 C/T IL1B)			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Bone. 2005	-511 C/T IL1B gene polymorphism is associated to resistance to bisphosphonates treatment in Paget disease of bone.		147720	11783	2	2005	 Our results suggest that the -511 CC genotype of the IL1B gene could be related to resistance to bisphosphonates in patients with PDB.		bisphophonate									
127985		gastritis, chronic atrophic; stomach cancer	CANCER	CAN	Helicobacter Infections|Gastritis|Stomach Diseases|Stomach Neoplasms|Atrophy|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Taguchi, A.  et al. 2005	16284368			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	CDC GDPinfo	3553	Hs.126256			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2487-93	Interleukin-8 promoter polymorphism increases the risk of atrophic gastritis and gastric cancer in Japan.		147720	11784	2	2005												
127978	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	2	2q14	IL1B	113303807	113310827		Lin, L.  et al. 2003	14966591				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Shanghai kou qiang yi xue. 2003 Dec;12(6):456-9	[Study on the Correlation of Cytokine Gene Polymorphism with Chronic Periodontitis]		147720	11771	2	2003	 IL-1B +3953 and TNF-A-308 allele 2 positive genotype have closer correlation with moderate-to-advanced AP.	Control:controls;Case patients with moderate to advanced adult:periodontitis		IL-1B 308 allele 2 positive	3953	TNF-A	308 allele 2 positive			Y		chronic periodontitis
127980	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms	2	2q14	IL1B	113303807	113310827		Kang, W. K.  et al. 2004	15266130				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The Korean journal of gastroenterology. 2004 Jul;44(1):25-33	[The role of interleukin-1beta gene polymorphism in the gastric carcinogenesis]		147720	11776	2	2004	 The single nucleotide polymorphism of IL-1B-31C may contribute to the development of the gastric adenocarcinoma in the H. pylori-positive population.	Control:100 healthy individuals;Case:258 patients with gastric adenocarcinoma	Helicobacter pylori									
127981		periodontitis	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Wen, A.  et al. 2004	15300650	(-31, -511, -1470)		promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue yi chuan xue za zhi. 2004 Aug;21(4):412-4	[Linkage disequilibrium analysis of -31, -511, -1470 single nucleotide polymorphisms in the promoter of IL-1 beta in Chongqing population]		147720	11777	2	2004	 -31, -511 and -1470 loci in the promoter region of IL-1 beta are in strong linkage disequilibrium. And this study provides a basis for searching disease-related IL-1 beta haplotye.	Cohort 112 healthy Chongqing people 										
127975	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Duan, H.  et al. 2002	12593203				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Hua xi kou qiang yi xue za zhi. 2002 Feb;20(1):48-51	[The association between IL-1 gene polymorphisms and susceptibility to severe periodontitis]		147720	11767	2	2002	 IL-1B + 3953/Taq I allele 2 and IL-1RN nitrol IL/VNTR allele 2 are genetic indicators of susceptibility to severe AP and RPP, and both AP and RPP are genetic heterogeneous.	Case:30/20 Chinese Han severe adult periodontitis patients (n=30) and patients with rapid progressive:periodontitis (n=20);Control:94 healthy controls										
127976	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Precancerous Conditions	2	2q14	IL1B	113303807	113310827		Sui, G. P.  et al. 2003	14521725				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		China	CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue za zhi. 2003 Sep;83(17):1479-83	[Correlation between polymorphisms of interleukin-1beta and RN genes and risk of gastric carcinoma: a case-control study]		147720	11769	2	2003	 IL-1beta-31 genotypes and. IL-2RN VNTR do not increase the risk of gastric carcinoma. The IL-1beta-511 T genotype increases the risk of gastric carcinoma in every precancerous stage.	Case:143 patients with gastric carcinoma (97 from Linqu County, Shandong Province, and 46 cases from the specimen bank of Beijing Cancer Hospital) Shangong Province and Beijing, China;Control:337 controls without gastric carcinoma, most of which suffered from other gastric diseases Linqu County										
127977	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	2	2q14	IL1B	113303807	113310827		Zhang, P.  et al. 2003	14669220				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):508-11	[Relationship of interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms with chronic hepatitis B]		147720	11770	2	2003	 The polymorphisms of the promoter region -511C/T of IL-1B gene and IL-1RN intron 2 gene are associated with the development of chronic hepatitis B. The people with IL-1RN*2 allele may be protected against HBV infection, and the IL-1B -511 CC genotype may be linked to HBV-DNA copy.	Case:190 paitnets with chronic hepatitis B;Control:249 normal controls										
127972	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q14	IL1B	113303807	113310827		Craggs, A.  et al. 2001	11686217				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		England	CDC GDPinfo	3553	Hs.126256			Scandinavian journal of gastroenterology. 2001 Nov;36(11):1173-8	Absence of a genetic association between IL-1RN and IL-1B gene polymorphisms in ulcerative colitis and Crohn disease in multiple populations from northeast England		147720	11762	2	2001	 The findings of this study lead us to reject the IL-1RN*2 association with IBD.	Control:289 racially and geographically matched healthy:controls;Case:529 northern European Caucasoid patients with IBD (347 UC, 182 CD) northern England										
127973	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Peng, Z.  et al. 2002	12133437				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Apr;41(4):248-51	[Interleukin (IL)-1beta, IL-1 receptor antagonist and IL-4 gene polymorphisms in ulcerative colitis in the Chinese]		147720	11765	2	2002	 There is correlation between the Chinese UC patients and the gene polymorphisms of intron 3 of IL-4. The gene frequency of allele RP1 in UC patients are lower, but the gene frequency of allele RP2 is significantly higher. The differences on gene frequencies of IL-4 between the UC patients and HS are mainly found in the ANCA positive UC patients. The Chinese UC patients are not associated with IL-1beta and IL-1RA gene polymorphisms.	Control:114 healthy subjects;Case:81 ulcerative colitis patients										
127974	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		He, X.  et al. 2002	12133467				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese		CDC GDPinfo	3553	Hs.126256			Zhonghua yi xue za zhi. 2002 May;82(10):685-8	[Relationship between interleukin-1B and interleukin-1 receptor antagonist gene polymorphisms and susceptibility to gastric cancer]		147720	11766	2	2002	 The polymorphism of promotor region -31C/T of IL-1B gene and the polymorphism of IL-1RN genes 1/2 and 2/2 are associated with the susceptibility of gastric cancer in Chinese. Carrying -31T allele increases the risk of gastric cancer. Polymorphism of IL-1RN and IL-1B gene may be used as indicators of susceptibility of gastric carcinogenesis.	Case:50 patietns with gastric cancer;Control:50 normal controls										
127969		thryoiditis, subacute granulomatous	UNKNOWN	UNK	Thyroiditis, Subacute	2	2q14	IL1B	113303807	113310827		Luotola, K.  et al. 2001	11506478				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			APMIS. 2001 Jun;109(6):454-60	Allele 2 of interleukin-1 receptor antagonist gene increases the risk of thyroid peroxidase antibodies in subacute thyroiditis.		147720	11759	2	2001	This study describes the multiplicity of the mechanisms responsible for the severity of the acute-phase response during the course of SAT. IL-1ra may have a significant anti-inflammatory role in SAT. Presence of IL-1ra allele 2 increases the risk of developing TPOab.	Cohort 48 subjects with subacute granulomatous tryroiditis 										
127970	Y	coronary artery disease	CARDIOVASCULAR	CARD	Chlamydophila Infections|Coronary Disease|Myocardial Infarction	2	2q14	IL1B	113303807	113310827		Momiyama, Y.  et al. 2001	11527622				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of the American College of Cardiology. 2001 Sep;38(3):712-7	Effects of interleukin-1 gene polymorphisms on the development of coronary artery disease associated with Chlamydia pneumoniae infection.		147720	11760	2	2001	 The IL-1 gene polymorphisms were found to play a role in the development of CAD, especially MI, in patients with CP infection.	Cohort 292 patients undergoing coronary angiography 	Chlamydia pneumoniae									
127971	Y	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections	2	2q14	IL1B	113303807	113310827		Katsuda, N.  et al. 2001	11579484	(C-31T)			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Japan	CDC GDPinfo	3553	Hs.126256			Japanese journal of public health. 2001 Aug;48(8):604-12	[Association between the interleukin 1B (C-31T) polymorphism and Helicobacter pylori infection in health checkup examinees]		147720	11761	2	2001	 An association between the IL-1B-31 polymorphism and persistent HP infection was observed for inhabitants with a smoking habit, indicating that this polymorphism is one genetic trait conferring an increased likelihood of persistent HP infection.	Cohort 468 participants in a health-check-up program of law of health for aged conducted by Nagoya Nishi Health Center 	Helicobacter pylori smoking (tobacco)									
127965		Henoch-Schonlein purpura.	RENAL	REN	Nephritis|Purpura, Schoenlein-henoch|Disease Susceptibility	2	2q14	IL1B	113303807	113310827		Amoli MM 2004	14760799				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	caucasian		KGB	3553	Hs.126256			The Journal of rheumatology. 2004 Feb;31(2):295-8	Interleukin 1beta gene polymorphism association with severe renal manifestations and renal sequelae in Henoch-Schonlein purpura.		147720	3542	1	2004	 In unselected patients with cutaneous vasculitis who fulfill classification criteria for HSP, carriage of IL-1beta (-511) T allele appears to influence severity of renal involvement.											
127966		ischaemic stroke	NEUROLOGICAL	NEUR	Brain Ischemia|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Dziedzic T 2004	14707339	-511			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Journal of neurology, neurosurgery, and psychiatry. 2004 Jan;75(1):170-1	Lack of association between interleukin-1 beta polymorphism (-511) and ischaemic stroke.		147720	3543	1	2004												
127968	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Cerebrovascular Disorders|Cardiovascular Diseases|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Cvetkovic JT et al. 2002	11838837				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			The Journal of rheumatology. 2002 Feb;29(2):212-9	Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha IL-1beta and IL-1Ra genes.		147720	3545	1	2002	 The Al allele of TNF-alpha associates with RA. Genotypes A1A2 of TNF-alpha and A2A2 of IL-1beta are associated with more severe disease. The allelic combination A1IL-1beta/A2 IL-1Ra is less often present in RA patients who developed cardiovascular complications.											
127961		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q14	IL1B	113303807	113310827		Krikovsky D 2004	12418458				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			Y Wang	3553	Hs.126256			European journal of pediatrics. 2002 Sep;161(9):507-8	Genetic polymorphism of interleukin-1beta is associated with risk of type 1 diabetes mellitus in children.		147720	3538	1	2004												
127963		Helicobacter pylori eradication	INFECTION	INF	Helicobacter Infections|Gastritis|Peptic Ulcer|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Furuta T 2004	15017629	511			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256	triple therapy with PPI, amoxicillin, and clarithromycin		Clinical gastroenterology and hepatology. 2004 Jan;2(1):22-30	Polymorphism of interleukin-1beta affects the eradication rates of Helicobacter pylori by triple therapy.		147720	3540	1	2004	 IL-1beta-511 polymorphism is one of the determinants of successful eradication of H. pylori using triple therapy with a PPI, amoxicillin, and clarithromycin, together with CYP2C19 genotype and bacterial resistance to clarithromycin.	Cohort 336 patients infected with H. pylori	amoxycillin clarithromycin lansoprazole omeprazole									
127964		systemic lupus erythematosus	IMMUNE	IMM	Sjogren's Syndrome|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Muraki Y 2004	15088297				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	Y Wang	3553	Hs.126256			The Journal of rheumatology. 2004 Apr;31(4):720-5	Polymorphisms of IL-1 beta gene in Japanese patients with Sjogren's syndrome and systemic lupus erythematosus.		147720	3541	1	2004	 IL-1 beta gene polymorphisms may affect susceptibility to SS, but not SLE.											
127957		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Pociot F 2004	7605869				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Danish	Denmark	Y Wang	3553	Hs.126256			Autoimmunity. 1994 ;19(3):169-78	Genetic susceptibility markers in Danish patients with type 1 (insulin-dependent) diabetes--evidence for polygenicity in man. Danish Study Group of Diabetes in Childhood		147720	3534	1	2004												
127958	N	chronic immune thrombocytopenic purpura.	IMMUNE	IMM	Purpura, Thrombocytopenic, Idiopathic|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Satoh T 2004	15009068	-511 C/T and +3953 T/C			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese		KGB	3553	Hs.126256			British journal of haematology. 2004 Mar;124(6):796-801	Single nucleotide polymorphisms of the inflammatory cytokine genes in adults with chronic immune thrombocytopenic purpura.		147720	3535	1	2004												
127959		body mass index in women.	METABOLIC	MET		2	2q14	IL1B	113303807	113310827		Um JY 2004	14981033				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Clinical chemistry. 2004 Mar;50(3):647-50	Association of interleukin-1beta gene polymorphism with body mass index in women.		147720	3536	1	2004												
127960	Y	noncardia gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Zambon CF 2004	14753224	(?511 C/T)			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Gastroenterology. 2004 Jan;126(1):382-4	Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms.		147720	3537	1	2004												
127953	Y	chronic atrophic gastritis and gastric carcinoma	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Chronic Disease	2	2q14	IL1B	113303807	113310827	0.02	Machado JC 2003	12891537	IL-1B-511 bi-allelic polymorphisms		5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	North Portugal		KGB	3553	Hs.126256			Gastroenterology. 2003 Aug;125(2):364-71	A proinflammatory genetic profile increases the risk for chronic atrophic gastritis and gastric carcinoma.		147720	3530	1	2003	 These findings show that a proinflammatory polymorphism in the TNF-alpha gene is associated with increased risk for GC, and that it is possible to define a specific genetic profile associated with highest risk for CAG and GC.	Case:221/287 individuals with chronic gastritis (n=221) and gastric carcinoma patients (n=287)										
127954	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Sciacca FL 2003	12928052				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Italy	KGB	3553	Hs.126256			Neurobiology of aging. 2003 Nov;24(7):927-31	Interleukin-1B polymorphism is associated with age at onset of Alzheimer's disease.		147720	3531	1	2003												
127955	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Encephalitis|Alzheimer Disease|Disease Progression|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Licastro F 2004	15212826	3953			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256	age at onset of the disease, survival and AD progression		Neurobiology of aging. 2004 Sep;25(8):1017-22	A polymorphism of the interleukin-1 beta gene at position +3953 influences progression and neuro-pathological hallmarks of Alzheimer's disease.		147720	3532	1	2004		Case:133										
127949	N	Severe Malaria	INFECTION	INF	Malaria|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	n	Walley AJ. et al Eur J Hum Genet. 2004	14673470				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Gambia	Gambia	KGB	3553	Hs.126256	Cerebral Malaria, Severe Malarial Anaemia, Mild Malaria		European journal of human genetics. 2004 Feb;12(2):132-8	Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case-control study		147720	3526	1	2004		Case:550; Control:550										
127950		Helicobacter pylori infection.	INFECTION	INF	Helicobacter Infections	2	2q14	IL1B	113303807	113310827		Take S 2003	14638340				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			The American journal of gastroenterology. 2003 Nov;98(11):2403-8	Interleukin-1beta genetic polymorphism influences the effect of cytochrome P 2C19 genotype on the cure rate of 1-week triple therapy for Helicobacter pylori infection.		147720	3527	1	2003	 IL-1beta genetic polymorphism, although not an independent factor in treatment outcome, influences the impact of the CYP2C19 genotype on the cure rate of 1-wk triple therapy for H. pylori infection.											
127951		temporal lobe epilepsy	OTHER	OTH	Epilepsy, Temporal Lobe	2	2q14	IL1B	113303807	113310827		Jin L 2003	14510824				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	chinese	China	KGB	3553	Hs.126256			Epilepsia. 2003 Oct;44(10):1306-9	Association analysis of a polymorphism of interleukin 1 beta (IL-1 beta) gene with temporal lobe epilepsy in a Chinese population.		147720	3528	1	2003	 In contrast with the lower frequency in the white population (35 and 34%) and higher rate in the population of African ancestry (60%), the allele -511T frequency in our present study is approximately 50%, indicating differences in the distribution of allele frequencies in IL-1 beta-511 among different ethnic groups. In this Chinese population, however, we still did not find a strong association between IL-1 beta-511 polymorphism and the development of HS.											
127945	Y	gastric cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis	2	2q14	IL1B	113303807	113310827		El-Omar EM et al. 2000	10746728		-511T allele associated with higher IL-1beta levels in gastric mucosa	5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Caucasian		KGB	3553	Hs.126256			Nature. 2000 Mar;404(6776):398-402	Interleukin-1 polymorphisms associated with increased risk of gastric cancer.		147720	3522	1	2000		Case:366; Control:429										
127946	N	Asthma	IMMUNE	IMM	Asthma	2	2q14	IL1B	113303807	113310827	n	Mao XQ 2000	11027520	C-511T			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KCB	3553	Hs.126256			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147720	3523	1	2000												
127947	Y	rate of decline in lung function in smokers	OTHER	OTH		2	2q14	IL1B	113303807	113310827		Joos L et al. 2001	11641511				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Thorax. 2001 Nov;56(11):863-6	Association of IL-1beta and IL-1 receptor antagonist haplotypes with rate of decline in lung function in smokers.		147720	3524	1	2001	 These results suggest that IL1B/IL1RN haplotypes play a role in the rate of decline in lung function in smokers.											
127948	N	sarcoidosis	OTHER	OTH	Sarcoidosis	2	2q14	IL1B	113303807	113310827	n	Niimi T et al. 2000	11127488				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Respiratory medicine. 2000 Nov;94(11):1038-42	Lack of association with interleukin 1 receptor antagonist and interleukin-1beta gene polymorphisms in sarcoidosis patients.		147720	3525	1	2000												
127941	Y	gastric carcinoma	CANCER	CAN	Intestinal Neoplasms|Stomach Neoplasms	2	2q14	IL1B	113303807	113310827	0.002	Machado JC et al. 2001	11606496	IL1B-511*T	increase expression level	5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	North Portugal	Portugal	JCM	3553	Hs.126256			Gastroenterology. 2001 Oct;121(4):823-9	Interleukin 1B and interleukin 1RN polymorphisms are associated with increased risk of gastric carcinoma.		147720	3518	1	2001	 Our results provide further support to the association between IL-1 gene cluster proinflammatory polymorphisms and increased risk of gastric carcinoma. Furthermore, we found evidence pointing to the existence of a synergistic interaction between the IL-1B and IL-1RN polymorphisms.	Case:152; Control:218										
127942	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	2	2q14	IL1B	113303807	113310827		Loughrey BV et al. 1998	10049523				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256	high secretor phenotype		Cytokine. 1998 Dec;10(12):984-8	An interluekin 1B allele which correlates with a high secretor phenotype is associated with diabetic nephropathy.		147720	3519	1	1998												
127943	Y	recurrent pregnancy loss	OTHER	OTH	Abortion, Habitual	2	2q14	IL1B	113303807	113310827		Wang ZC et al. 2002	11857060			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Genes and immunity. 2002 Feb;3(1):38-42	T helper 1-type immunity to trophoblast antigens in women with a history of recurrent pregnancy loss is associated with polymorphism of the IL1B promoter region.		147720	3520	1	2002												
127944	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	2	2q14	IL1B	113303807	113310827	n	Hacker UT et al. 1998	9568467				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			European journal of clinical investigation. 1998 Mar;28(3):214-9	Inflammatory bowel disease: no association between allele combinations of the interleukin (IL) I beta and IL-I receptor antagonist gene polymorphisms.		147720	3521	1	1998	 Thus, we could not confirm the results of a previous study reporting an association between the IL-1ra and IL-1 beta gene polymorphisms in patients with inflammatory bowel disease.											
127937	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	2	2q14	IL1B	113303807	113310827	n	Hacker UT et al. 1998	9568467				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			European journal of clinical investigation. 1998 Mar;28(3):214-9	Inflammatory bowel disease: no association between allele combinations of the interleukin (IL) I beta and IL-I receptor antagonist gene polymorphisms.		147720	3514	1	1998	 Thus, we could not confirm the results of a previous study reporting an association between the IL-1ra and IL-1 beta gene polymorphisms in patients with inflammatory bowel disease.											
127938	N	Preeclampsia/ Hypertension in pregnancy	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	n	Lachmeijer AM et al. 2002	12044341			other	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Hypertension in pregnancy. 2002 ;21(1):23-38	Linkage and association studies of IL1B and IL1RN gene polymorphisms in preeclampsia.		147720	3515	1	2002	 None of the IL1B and IL1RN polymorphisms provided evidence for either association or linkage with the risk for (pre)eclampsia/HELLP syndrome, preeclampsia only or HELLP syndrome only.											
127939	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Mattila KM et al. 2002	12070246				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Finland	KGB	3553	Hs.126256			Journal of medical genetics. 2002 Jun;39(6):400-2	Association of an interleukin 1B gene polymorphism (-511) with Parkinson's disease in Finnish patients.		147720	3516	1	2002												
127940	N	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	n	Huang CM et al. 2002	11958432				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese	Taiwan	KGB	3553	Hs.126256			Rheumatology international. 2002 Mar;21(5):173-5	Lack of association of interleukin-1beta gene polymorphisms in Chinese patients with systemic lupus erythematosus.		147720	3517	1	2002												
127933	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q14	IL1B	113303807	113310827		Schrijver HM et al. 1999	10025794				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Neurology. 1999 Feb;52(3):595-9	Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS.		147720	3510	1	1999	 IL-1RA and IL-1beta are disease severity genes rather than disease susceptibility genes. Furthermore, these gene polymorphisms may define subgroups of patients with a worse prognosis.											
127934	Y	decreased bone mass in patients	METABOLIC	MET	Osteoporosis|Inflammatory Bowel Diseases	2	2q14	IL1B	113303807	113310827		Nemetz A et al. 2001	11600466				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Gut. 2001 Nov;49(5):644-9	Allelic variation at the interleukin 1beta gene is associated with decreased bone mass in patients with inflammatory bowel diseases.		147720	3511	1	2001	 Our results suggest that genetic variability may be a major determinant of bone loss in IBD. Carriers of IL1B-511*2, who are hypersecretors of IL-1beta, have a higher risk of presenting with low bone mass in IBD. Screening for this allele may contribute to determination of the risk of bone loss at the time of disease onset.	Control:58 healthy controls (HC; 28 men/30 women; 32.4 (1.2):years);Case:75 inflammatory bowel disease patients (34 men/41:women; 40.3 (1.6) years)										
127936	N	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q14	IL1B	113303807	113310827	n	Laurent C et al. 1997	9323321				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	French		KGB	3553	Hs.126256			Psychiatric genetics. 1997 ;7(3):103-5	Detection of two new polymorphic sites in the human interleukin-1 beta gene: lack of association with schizophrenia in a French population.		147720	3513	1	1997												
127929	Y	schizophrenia	PSYCH	PSY	Schizophrenia	2	2q14	IL1B	113303807	113310827		Meisenzahl EM et al. 2001	11481169				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			The American journal of psychiatry. 2001 Aug;158(8):1316-9	Association of an interleukin-1beta genetic polymorphism with altered brain structure in patients with schizophrenia.		147720	3506	1	2001	 The data suggest that allele 2 within the promoter region of the interleukin-1beta gene at position -511 contributes to structural brain alterations in patients with schizophrenia.											
127930		schizophrenia	PSYCH	PSY	Schizophrenia	2	2q14	IL1B	113303807	113310827		Yang J et al. 2003	12706488				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Life sciences. 2003 May;72(26):3017-21	Association study between interleukin-1beta gene (IL-1beta) and schizophrenia.		147720	3507	1	2003												
127931		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Gore EA et al. 1998	9797049	+3953 allele 2			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Journal of clinical periodontology. 1998 Oct;25(10):781-5	Interleukin-1beta+3953 allele 2: association with disease status in adult periodontitis.		147720	3508	1	1998												
127932	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	2	2q14	IL1B	113303807	113310827		Genevay S et al. 2002	12115161				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147720	3509	1	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
127925	Y	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections	2	2q14	IL1B	113303807	113310827		Katsuda N et al. 2001	11579484	C-31T			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Japan	KGB	3553	Hs.126256			Japanese journal of public health. 2001 Aug;48(8):604-12	Association between the interleukin 1B (C-31T) polymorphism and Helicobacter pylori infection in health checkup examinees		147720	3502	1	2001	 An association between the IL-1B-31 polymorphism and persistent HP infection was observed for inhabitants with a smoking habit, indicating that this polymorphism is one genetic trait conferring an increased likelihood of persistent HP infection.	Cohort 468 participants in a health-check-up program of law of health for aged conducted by Nagoya Nishi Health Center	Helicobacter pylori smoking (tobacco)									
127927	Y	gastric cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms	2	2q14	IL1B	113303807	113310827		Kato S et al. 2001	11686480				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	KGB	3553	Hs.126256			Journal of gastroenterology. 2001 Oct;36(10):696-9	Association of the interleukin-1 beta genetic polymorphism and gastric cancer risk in Japanese.		147720	3504	1	2001	 The IL-1 beta-511 genetic polymorphism was not associated with gastric cancer in a multistep carcinogenesis model. However, in view of the results for the IM or CAG without H. pylori group, the presence of the C allele may also indicate a risk of mucosal atrophy of the stomach in the Japanese population.											
127928		alopecia areata	IMMUNE	IMM	Alopecia Areata	2	2q14	IL1B	113303807	113310827		Tazi-Ahnini R et al. 2001	11703512				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Heredity. 2001 Aug;87(Pt 2):215-9	Association analysis of IL1A and IL1B variants in alopecia areata.		147720	3505	1	2001	The results suggested the possibility of an association with IL1A+4845 in the overall dataset [OR 1.39 (95% CI 1.00, 1.93)] although this was not statistically significant. This was due mainly to the contribution from mild cases of alopecia areata [OR 1.48 (0.96, 2.29)], suggesting that IL-1alpha may have a particular role in the pathogenesis of this subgroup.	Control:1150 matched controls;Case:165 alopecia areata patients										
127921	Y	Asthma in men	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	P=0.009	Karjalainen J 2002	11898000	C-511T			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Finnish		KCB	3553	Hs.126256			The Journal of allergy and clinical immunology. 2002 Mar;109(3):514-6			147720	3498	1	2002												
127922	N	IgE	IMMUNE	IMM	Asthma	2	2q14	IL1B	113303807	113310827	n	Unoki M 2000	10830912	T-578C			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Japan	KGB	3553	Hs.126256			Human genetics. 2000 Apr;106(4):440-6			147720	3499	1	2000												
127923	Y	hepatocellular carcinoma	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	0.009	Wang Y 2003	12500190	IL-1beta-31 genotype T/T or IL-1beta-511/-31 haplotype C-T		5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese		KEW	3553	Hs.126256	hepatitis C virus infection		Hepatology (Baltimore, Md). 2003 Jan;37(1):65-71			147720	3500	1	2003		Case:274; Control:55										
127924	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	n	Hakonarson H 2001	11739132	G6912C			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Icelandic	Iceland	KCB	3553	Hs.126256			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147720	3501	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
127915	N	IgE	IMMUNE	IMM	Asthma	2	2q14	IL1B	113303807	113310827	n	Mao X 2000	11027520	C-511T			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese		KGB	3553	Hs.126256			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147720	3492	1	2000												
127916	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	P=0.009	Karjalainen J 2002	11898000	C-511T			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KCB	3553	Hs.126256			The Journal of allergy and clinical immunology. 2002 Mar;109(3):514-6			147720	3493	1	2002												
127918	N	Longevity	AGING	AGE		2	2q14	IL1B	113303807	113310827	n	Wang XY 2001	11640949	IL1B+ 3953 and IL1B- 511			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Finnish Nonagenarians		KGB	3553	Hs.126256			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			147720	3495	1	2001		Case:250; Control:400										
127919		Asthma	IMMUNE	IMM	Asthma	2	2q14	IL1B	113303807	113310827		Unoki M 2000	10830912	T-578C			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese	Japan	KCB	3553	Hs.126256			Human genetics. 2000 Apr;106(4):440-6			147720	3496	1	2000												
127911		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Barton, A.  et al. 2002	11981324				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147760	28380	2	2002	Review article											
127912		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	2	2q14	IL1A	113247962	113259442		Zee, R. Y.  et al. 2002	12082592				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147760	28594	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
127913		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1B	113303807	113310827		Ehl C 2003	12525884	IL1beta 511 alleles			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KEW	3553	Hs.126256			International journal of molecular medicine. 2003 Feb;11(2):235-8			147720	3490	1	2003												
127914	N	Inflammatory Bowl Disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q14	IL1B	113303807	113310827	n	Craggs A 2001	11686217				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	European Caucasians	England	KGB	3553	Hs.126256			Scandinavian journal of gastroenterology. 2001 Nov;36(11):1173-8	Absence of a genetic association between IL-1RN and IL-1B gene polymorphisms in ulcerative colitis and Crohn disease in multiple populations from northeast England		147720	3491	1	2001	 The findings of this study lead us to reject the IL-1RN*2 association with IBD.	Control:289 racially and geographically matched healthy:controls;Case:529 northern European Caucasoid patients with IBD (347 UC, 182 CD) northern England										
127908		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Cacabelos, R.   2002	12452480				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		147760	27933	2	2002	Review article											
127909	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Donaldson, P. T.  et al. 2002	12100571				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		147760	27934	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
127910		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Prince, J. A.  et al. 2001	11436125				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Sweden	CDC GDPinfo	3552	Hs.1722			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		147760	28156	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
127904		graft versus host disease	IMMUNE	IMM		2	2q14	IL1A	113247962	113259442		Daly, A. K.  et al. 2002	12083951				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147760	27014	2	2002	Review article											
127905		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Martin, A. M.  et al. 2003	14566095				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147760	27015	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
127906		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1A	113247962	113259442		Kornman, K. S.  et al. 2001	11887471				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		147760	27752	2	2001	Review Article											
127907		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	2	2q14	IL1A	113247962	113259442		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		147760	27753	2	2002	Review article											
127900		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		2	2q14	IL1A	113247962	113259442		De Capei, M. U.  et al. 2003	12558814				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		147760	26266	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
127901		celiac disease	IMMUNE	IMM	Celiac Disease	2	2q14	IL1A	113247962	113259442		Rueda, B.  et al. 2005	16078996				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		147760	26267	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
127903		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Clarimon, J.  et al. 2003	12782964				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Spanish	Spain	CDC GDPinfo	3552	Hs.1722			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		147760	27013	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
127897		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	2	2q14	IL1A	113247962	113259442		Lan, Q.  et al. 2005	16230423				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		147760	26263	2	2005												
127898		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Cinek, O.  et al. 2004	15170937				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Czech	Czech Republic	CDC GDPinfo	3552	Hs.1722			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147760	26264	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
127899		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		2	2q14	IL1A	113247962	113259442		Trejaut, J. A.  et al. 2004	15361128				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147760	26265	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
127894		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Parks, C. G.  et al. 2004	15219382				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Southeastern United States	CDC GDPinfo	3552	Hs.1722			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		147760	26260	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries										
127895		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Combarros, O.  et al. 2005	15854776				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		147760	26261	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
127896		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	2	2q14	IL1A	113247962	113259442		Forre, O.  et al. 2002	12195624				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		147760	26262	2	2002	Review article											
127889		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1A	113247962	113259442			16389181				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		147760	24958	2	2006												
127890		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	2	2q14	IL1A	113247962	113259442		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147760	24959	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
127892	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Bushley, A. W.  et al. 2004	15581980				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Gynecologic oncology. 2004 Dec;95(3):672-9	Polymorphisms of interleukin (IL)-1alpha, IL-1beta, IL-6, IL-10, and IL-18 and the risk of ovarian cancer.		147760	24961	2	2004	 Overall, this study does not support an association of selected IL-1alpha, IL-1beta, IL-6, IL-10, or IL-18 polymorphisms with the risk for ovarian cancer. However, the IL-18 G137C variant may be a marker for ovarian cancer progression or metastasis.	Case:182 epithelial ovarian cancer cases;Control:219:controls										
127886		silicosis	IMMUNE	IMM	Silicosis	2	2q14	IL1A	113247962	113259442		Yucesoy, B.  et al. 2001	11241561				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			American journal of industrial medicine. 2001 Mar;39(3):286-91	Polymorphisms of the IL-1 gene complex in coal miners with silicosis		147760	22487	2	2001	 This is the first report showing an association between the IL-1RA (+ 2018) polymorphism and silicosis, and suggests that this polymorphism may confer increased risk for the development of the disease.	Control:163 controls without any apparent inflammation or other pulmonary disease;Case:318 Caucasian cases confirmed histopathologically with pulmonary silicosis										
127887	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	2	2q14	IL1A	113247962	113259442		Volzke, H.  et al. 2004	12899665				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		147760	24956	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
127888		subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	2	2q14	IL1A	113247962	113259442		Ruigrok, Y. M.  et al. 2005	15726267				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		147760	24957	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
127883		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	2	2q14	IL1A	113247962	113259442		Marshall, S. E.  et al. 2001	11233912				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147760	22484	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
127884		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Pereira, N. F.  et al. 2004	15566952				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		147760	22485	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
127885		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Delgado, J. C.  et al. 2002	12404162				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			The Journal of infectious diseases. 2002 Nov;186(10):1463-8	Ethnic-specific genetic associations with pulmonary tuberculosis.		147760	22486	2	2002	The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.	Control:106 tuberculin-positive controls subjects;Case:358 Cambodian patients with pulmonary TB:Cambodia										
127880		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Hayes, A.  et al. 2004	15377701				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Journal of neurology, neurosurgery, and psychiatry. 2004 Oct;75(10):1475-7	A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease.		147760	22481	2	2004	 Polymorphisms within IL-1A influence the degree of brain microglial cell activation, especially in bearers of APOE epsilon4 allele, reinforcing the importance of neuroinflammatory processes in the pathogenesis of AD, and supporting the rationale for treating the disease with inflammation modulating drugs.	Cohort 68 patients with necropsy confirmed Alzheimer's disease 										
127881	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Bosco, P.  et al. 2004	15201366				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Italy	CDC GDPinfo	3552	Hs.1722			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		147760	22482	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
127882		spinal ossification	UNKNOWN	UNK	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Ogata, N.  et al. 2002	12195069				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Japan	CDC GDPinfo	3552	Hs.1722			Spine. 2002 Aug;27(16):1765-71	Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity		147760	22483	2	2002	 The contribution of genetic backgrounds is likely to be stronger in women than in men with ossification of the posterior longitudinal ligament of the spine. Estrogen receptor polymorphism was associated with both initiation and promotion of the disorder, but interleukin-1beta polymorphism was associated only with its initiation in women.	Case:120 patients (77 men and 43 women) with ossification of the posterior longitudinal ligament of the spine;Control:306 ontrol subjects without the disorder (166 men and 140 women)										
127877	Y	atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Pessi, T.  et al. 2003	12746420				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Finnish	Finland	CDC GDPinfo	3552	Hs.1722			Journal of medical genetics. 2003 May;40(5):e66	A common IL-1 complex haplotype is associated with an increased risk of atopy.	17561	147760	17718	2	2003	We conclude that the IL1a*1/IL1B*1/IL1RN*2 haplotype contains the decisive allale or allele combinations which increase the risk of atopy.	Cohort 254/151 females (n=254) and males (n=151) who were the controls of a Finnish population based case-control study. 			1a*1/1B*1/1RN*2 haplotype					Y		atopy
127878		periodontitis	IMMUNE	IMM	Bone Resorption|Gingival Hemorrhage|Periodontitis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Nastri, L.  et al. 2003	12874528				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Italy	CDC GDPinfo	3552	Hs.1722			Minerva stomatologica. 2003 Jun;52(6):253-9	[Association between interleukin-1 composite genotype and severe periodontitis: case-controlstudy]		147760	17719	2	2003	 The results obtained lead us to consider of little value the meaning of this genetic test. The test did not supply any useful element in discriminating controls from severe periodontal cases; therefore, it is not useful in the formulation of the prognosis.	Control:10 periodontally healthy people;Case:20 subjects aged more than 35 with clinical and radiographic signs of severe periodontitis										
127879		inflammatory response, trauma induced	IMMUNE	IMM	Multiple Trauma|Genetic Predisposition to Disease|Inflammation|Systemic Inflammatory Response Syndrome	2	2q14	IL1A	113247962	113259442			16317381				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Shock (Augusta, Ga). 2005 Dec;24(6):518-22	GENETIC PREDISPOSITION FOR A COMPROMISED IMMUNE SYSTEM AFTER MULTIPLE TRAUMA		147760	17783	2	2005												
127873		alopecia areata	IMMUNE	IMM	Alopecia Areata	2	2q14	IL1A	113247962	113259442		Tazi-Ahnini, R.  et al. 2001	11703512				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Heredity. 2001 Aug;87(Pt 2):215-9	Association analysis of IL1A and IL1B variants in alopecia areata		147760	17714	2	2001	The results suggested the possibility of an association with IL1A+4845 in the overall dataset [OR 1.39 (95% CI 1.00, 1.93)] although this was not statistically significant. This was due mainly to the contribution from mild cases of alopecia areata [OR 1.48 (0.96, 2.29)], suggesting that IL-1alpha may have a particular role in the pathogenesis of this subgroup.	Control:1150 matched controls;Case:165 alopecia areata patients										
127874		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Tooth Loss|Chronic Disease	2	2q14	IL1A	113247962	113259442		Greenstein, G.  et al. 2002	11895290				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Journal of periodontology. 2002 Feb;73(2):231-47	A critical assessment of interleukin-1 (IL-1) genotyping when used in a genetic susceptibility test for severe chronic periodontitis.		147760	17715	2	2002	 There are many unanswered questions concerning the utility of detecting allele 2 at the IL-1A+4845 and IL-IB+3954 loci to foretell which patients will develop severe chronic periodontitis. Therefore, clinicians must cautiously interpret results obtained with the commercially available genetic susceptibility test before they alter maintenance schedules or treatment regimens of symptomatic or asymptomatic patients.	Cohort test (genotype-positive) and control groups (genotype-negative) from controlled clinical trials 										
127875	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	2	2q14	IL1A	113247962	113259442		Genevay, S.  et al. 2002	12115161				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147760	17716	2	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
127869	Y	preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	2	2q14	IL1A	113247962	113259442		Engel, S. A.  et al. 2005	15951664				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		North Carolina	CDC GDPinfo	3552	Hs.1722			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		147760	11816	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
127871	Y	periodontal disease	IMMUNE	IMM	Periodontitis|Inflammation	2	2q14	IL1A	113247962	113259442		D'Aiuto, F.  et al. 2004	15341923				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Cytokine. 2004 Oct;28(1):29-34	Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections		147760	14302	2	2004	These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.	Cohort 94 subjects with periodontitis 										
127872		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Brett, P. M.  et al. 2005	16304445				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Journal of dental research. 2005 Dec;84(12):1149-53	Functional Gene Polymorphisms in Aggressive and Chronic Periodontitis.		147760	14736	2	2005												
127865	Y	periodontitis	IMMUNE	IMM	Periodontitis|Acute Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Li, Q. Y.  et al. 2004	15732864				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Chinese	China	CDC GDPinfo	3552	Hs.1722			Journal of periodontology. 2004 Dec;75(12):1627-35	Association analysis between interleukin-1 family polymorphisms and generalized aggressive periodontitis in a Chinese population.		147760	11753	2	2004	 The polymorphisms of IL-1A +4845 and IL-1B -511 may play an important role in determining GAgP susceptibility in Chinese males. Furthermore, a possible combined effect of the polymorphism of IL-1B -511 and smoking on GAgP susceptibility was suggested.	Case:122 Chinese patients with aggressive periodontitis;Control:95 healthy subjects										
127866	Y	sepsis	INFECTION	INF		2	2q14	IL1A	113247962	113259442		Yang, M. S.  et al. 2005	15836820				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Zhongguo wei zhong bing ji jiu yi xue. 2005 Apr;17(4):203-6	[Association of different alleles in interleukin-1 family genes with the coded cytokines production and outcome of sepsis]		147760	11754	2	2005	 IL-1RN2 allele induces high IL-1ra expression and is closely with the outcome of patients in sepsis. It could be one of high risk genetic factors in septic patients.	Control healthy volunteers;Case sepsis patients										
127868		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Kim, T. H.  et al. 2005	16206345				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Korean, Canadian	Canada|Korea	CDC GDPinfo	3552	Hs.1722			The Journal of rheumatology. 2005 Oct;32(10):1907-10	Interleukin 1 and nuclear factor-kappaB polymorphisms in ankylosing spondylitis in Canada and Korea.		147760	11756	2	2005	 Our analysis of these SNP in the IL-1 complex and NF-kappaB genes does not support a major role for either in AS susceptibility in the Seoul and Toronto populations.											
127862		HIV	INFECTION	INF	HIV Infections|Viremia	2	2q14	IL1A	113247962	113259442		Price, P.  et al. 2004	15238767				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			AIDS (London, England). 2004 Jul;18(11):1495-501	Alleles of the gene encoding IL-1alpha may predict control of plasma viraemia in HIV-1 patients on highly active antiretroviral therapy.		147760	11750	2	2004	 Alleles carried at IL1A-889 or IL1A+4845 may predict the control of HIV replication in previously immunodeficient patients responding to HAART.	Cohort adult HIV-infected patients Western Australia 										
127863		hypertension	CARDIOVASCULAR	CARD		2	2q14	IL1A	113247962	113259442		Li, Y.  et al. 2004	15476179				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):491-3	[Study on the polymorphism of interleukin-1 gene and the susceptibility to essential hypertension]		147760	11751	2	2004	 The polymorphism of promotor region -511C/T in IL-1beta gene is probably associated with the susceptibility to essential hypertension.	Case:152 patients with essential hypertension;Control:168 healthy controls										
127864		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Huang, H. Y.  et al. 2004	15562658				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Chinese		CDC GDPinfo	3552	Hs.1722			Hua xi kou qiang yi xue za zhi. 2004 Oct;22(5):415-9	[Investigation on the association of interleukin-1 genotype polymorphism with chronic periodontitis]		147760	11752	2	2004	 Findings from this study bring into question the usefulness of the genotypes of allele 2 of IL-1A-889, IL-1B-511 and IL-1B + 3953 as a method for determining the susceptibility of Chinese patients to chronic periodontitis. There is a possible role of IL-1 gene polymorphisms in the susceptibility to chronic periodontitis for some patients.	Case:182 Han Chinese chronic periodontitis cases;Control:89 periodontal healthy controls										
127858		H. pylori infection	INFECTION	INF		2	2q14	IL1A	113247962	113259442		Matsuo, K.  et al. 2003	12729191				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Epidemiology and infection. 2003 Apr;130(2):227-33	Smoking and polymorphisms of fucosyltransferase gene Le affect success of H. pylori eradication with lansoprazole, amoxicillin, and clarithromycin		147760	11744	2	2003	Although further clarification is necessary, our study indicated that smoking cessation and Le gene polymorphisms may affect the success rate of HP eradication.	Cohort 142 patients with H. pylori infection Japan 	amoxycillin clarithromycin lansoprazole smoking (tobacco)									
127860		vulvar cancer	CANCER	CAN	Carcinoma, Squamous Cell|Vulvar Neoplasms|Cell Transformation, Neoplastic	2	2q14	IL1A	113247962	113259442		Grimm, C.  et al. 2004	14984963				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Gynecologic oncology. 2004 Mar;92(3):936-40	A polymorphism of the interleukin-1 receptor antagonist plays a prominent role within the interleukin-1 gene cluster in vulvar carcinogenesis.		147760	11746	2	2004	 We are the first to report on polymorphisms in genes encoding cytokines in patients with vulvar cancer. Reflecting its biological role, the common IL1RN intron 2 polymorphism seems to play a prominent role within the IL-1 gene cluster with respect to vulvar carcinogenesis.	Control:228 healthy Caucasian controls;Case:68 patients with surgically treated vulvar cancer										
127861		dysthymia	OTHER	OTH	Genetic Predisposition to Disease|Dysthymic Disorder	2	2q14	IL1A	113247962	113259442		Fertuzinhos, S. M.  et al. 2004	14997019				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Brazil	CDC GDPinfo	3552	Hs.1722			Journal of molecular neuroscience. 2004 ;22(3):251-6	Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.		147760	11747	2	2004	These results suggest that these polymorphisms might confer a greater susceptibility to develop dysthymia in Brazilian patients. However, to validate these data it will be of great interest to repeat this study in larger samples and other ethnic groups.	Case:59 dysthymic patients:Brazil;Control:69 normal controls										
127855	Y	migraine	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	2	2q14	IL1A	113247962	113259442		Rainero, I.  et al. 2002	12047332				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Headache. 2002 May;42(5):337-40	A polymorphism in the interleukin-1alpha gene influences the clinical features of migraine.		147760	11740	2	2002	 The results of our study suggest a role for the IL1A gene in modifying the clinical features of migraine.	Cohort 269 patients with migraine 										
127856		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Zhong, L.  et al. 2002	12362317				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Chinese	China	CDC GDPinfo	3552	Hs.1722			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):405-8	[The association of interleukin-1 gene polymorphisms with the susceptibility to chronic periodontitis in Uighur]		147760	11742	2	2002	 These results suggest that IL-1B+3953 allele 2 may be a risk indicator for the susceptibility to severe chronic periodontitis in Uighur minority in Xingjiang of China.	Case:41/42/49 severe chronic periodontitis (CP) patients (n=41), moderate CP patients (n=42), mild CP patients:(n=49):Xingjiang, China;Control:92 healthy controls										
127857	Y	sepsis	INFECTION	INF	Sepsis	2	2q14	IL1A	113247962	113259442		Ma, P.  et al. 2002	12425801				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Zhonghua yi xue za zhi. 2002 Sep;82(18):1237-41	[Genomic polymorphism within interleukin-1 family cytokines influences the outcome of septic patients]		147760	11743	2	2002	 Allele IL-1RN2 polymorphism, but not IL-1A or IL-1B gene polymorphism, is associated with susceptibility to sepsis. Alleles A2, B2 and RN2 might be important high-risk genetic markers for sepsis.	Control normal controls;Case:60 patients with the diagnosis of sepsis who were admitted consecutively into the general intensive care unit:Peking:1997-1999										
127850	Y	high interleukin-1 beta plasma levels	IMMUNE	IMM		2	2q14	IL1A	113247962	113259442		Hulkkonen J et al. 2000	10903804				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	healthy individuals		KGB	3552	Hs.1722	high interleukin-1 beta plasma levels		European cytokine network. 2000 Jun;11(2):251-5	A rare allele combination of the interleukin-1 gene complex is associated with high interleukin-1 beta plasma levels in healthy individuals.		147760	3489	1	2000												
127851		lymphoma, malignant	CANCER	CAN	Lymphoma	2	2q14	IL1A	113247962	113259442		Matsuo, K.  et al. 2001	11423389				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Haematologica. 2001 Jun;86(6):602-8	No substantial difference in genotype frequencies of interleukin and myeloperoxidase polymorphisms between malignant lymphoma patients and non-cancer controls.		147760	11736	2	2001	 Our data show a limited association between these polymorphisms and malignant lymphoma risk in total. The possible association of the IL-1A and IL-1B polymorphisms with DLB-needs further clarification.	Control:241 non-cancer control subjects:Japan;Case:372 lymphoma cases:Japan										
127853		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q14	IL1A	113247962	113259442		Lin, R. C.  et al. 2002	11840488				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Australia	CDC GDPinfo	3552	Hs.1722			American journal of medical genetics. 2002 Feb;107(4):311-6	Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension.		147760	11738	2	2002	In conclusion, no association of the IL1B C([minus sign][?]31)T with HT was found, whereas combined frequency of the minor alleles of the IL1RN polymorphism was increased in the HT cohort studied	Cohort white Anglo-Celtic individuals Sydney, Australia 										
127845		smoking	OTHER	OTH	Periodontal Attachment Loss|Periodontitis|Tooth Loss	2	2q14	IL1A	113247962	113259442		Meisel P 2004	15068111				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of periodontology. 2004 Feb;75(2):236-42	Dose-effect relation of smoking and the interleukin-1 gene polymorphism in periodontal disease.		147760	3484	1	2004	 There is a gene-environmental interaction between smoking and the IL-1 genetic polymorphism. Smokers bearing the genotype-positive IL-1 allele combination have an increased risk of periodontitis. The IL-1 genotype has no influence in non-smokers.											
127846		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Hutyrova B 2004	14705223				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	caucasian		KGB	3552	Hs.1722			The Journal of rheumatology. 2004 Jan;31(1):81-4	Interleukin 1alpha single-nucleotide polymorphism associated with systemic sclerosis.		147760	3485	1	2004	 The IL-1alpha-889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc.											
127848	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442	n	Fidani L et al. 2002	11911995				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Neuroscience letters. 2002 Apr;323(1):81-3	Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease.		147760	3487	1	2002	We conclude that  IL-1A genotype is not a major risk factor for LOAD.											
127849	Y	periodontitis	IMMUNE	IMM	Periodontitis	2	2q14	IL1A	113247962	113259442		Parkhill JM et al. 2000	10983602				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of clinical periodontology. 2000 Sep;27(9):682-9	Association of interleukin-1 gene polymorphisms with early-onset periodontitis.		147760	3488	1	2000	 These findings suggest that an IL-1 beta genotype in combination with smoking, and a combined IL-1 beta and IL-1RA genotype are risk factors for EOP and support a role for genetic and environmental factors in susceptibility to EOP.											
127841		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Parks CG 2004	14672899				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Southeastern United States	Y Wang	3552	Hs.1722			Annals of the rheumatic diseases. 2004 Jan;63(1):91-4	Systemic lupus erythematosus and genetic variation in the interleukin 1 gene cluster: a population based study in the southeastern United States.		147760	3480	1	2004	 The observed associations support the hypothesis that genetic variation in IL1 is involved in the aetiology of SLE and merit further investigation.											
127842	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Meulenbelt I 2004	15077300	C-889T		5'promoter	Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Rotterdam study		KGB	3552	Hs.1722			Arthritis and rheumatism. 2004 Apr;50(4):1179-86	Association of the interleukin-1 gene cluster with radiographic signs of osteoarthritis of the hip.	rs1800587	147760	3481	1	2004	 Our findings suggest that the IL-1 gene cluster polymorphisms may play a significant role in the pathogenesis of OA of the hip.											
127843		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q14	IL1A	113247962	113259442		Kristiansen OP 2004	10671304				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Danish	Denmark	Y Wang	3552	Hs.1722			Cytokine. 2000 Feb;12(2):171-5	Linkage disequilibrium testing of four interleukin-1 gene-cluster polymorphisms in Danish multiplex families with insulin-dependent diabetes mellitus.		147760	3482	1	2004												
127837		early marginal bone loss around endosseous dental implants.	OTHER	OTH	Alveolar Bone Loss|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Shimpuku H 2003	12869004				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Clinical oral implants research. 2003 Aug;14(4):423-9	Genetic polymorphisms of the interleukin-1 gene and early marginal bone loss around endosseous dental implants.		147760	3476	1	2003												
127838	Y	cerebral infarction	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebral Infarction|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Um JY 2003	12824054				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Korea	KGB	3552	Hs.1722			Brain research  Molecular brain research. 2003 Jul;115(1):50-4	Association of interleukin-1 alpha gene polymorphism with cerebral infarction.		147760	3477	1	2003	We conclude that  the IL-1alpha-889 polymorphism is a major risk factor for CI in Koreans.											
127839	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Karasneh J 2003	12730545				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Rheumatology (Oxford, England). 2003 Jul;42(7):860-4	Association of specific interleukin 1 gene cluster polymorphisms with increased susceptibility for Behcet's disease.		147760	3478	1	2003	 Susceptibility to BD is increased in individuals carrying both the IL-1A -889C and IL-1B +5887T haplotype. Individuals who are both homozygous CC at IL-1A -889 and TT at IL-1B +5887 appear to have twice the risk of developing BD as individuals having other IL-1A -889/IL-1B +5887 genotypes.											
127833	Y	periodontal disease	IMMUNE	IMM	Periodontitis|Diabetes Mellitus|Diabetes Complications	2	2q14	IL1A	113247962	113259442		Guzman S 2003	14514232				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	unknown		KGB	3552	Hs.1722			Journal of periodontology. 2003 Aug;74(8):1183-90	Association between interleukin-1 genotype and periodontal disease in a diabetic population.		147760	3472	1	2003	 These data confirm the high prevalence and severity of periodontitis in the diabetic population, and support the association between poor glycemic control and periodontal disease. The low prevalence of some of the IL-1 gene polymorphisms in the ethnic groups included in this study limits the validity of conclusions on genotype associations with clinical findings, but there was a trend suggesting that allele 1 at IL-1B (-511) and IL-1B (+3954) was overrepresented among diabetics with periodontal disease.											
127834	N	aggressive periodontitis	IMMUNE	IMM	Periodontitis	2	2q14	IL1A	113247962	113259442	0.08	Gonzales JR 2003	12974682	G(+4845)-T		3'untranslated	Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	European Caucasians and Hispanics	El Salvador|Germany	KGB	3552	Hs.1722			European journal of oral sciences. 2003 Oct;111(5):395-9	Comparison of interleukin-1 genotypes in two populations with aggressive periodontitis.		147760	3473	1	2003		Case:44; Control:47										
127835		chronic graft-versus-host disease	OTHER	OTH	Bone Marrow Diseases|Lymphoproliferative Disorders|Graft vs Host Disease|Chronic Disease	2	2q14	IL1A	113247962	113259442		Cullup H 2003	12930389				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			British journal of haematology. 2003 Sep;122(5):778-87	Polymorphisms of interleukin-1alpha constitute independent risk factors for chronic graft-versus-host disease after allogeneic bone marrow transplantation.		147760	3474	1	2003												
127829	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Grimaldi LM et al. 2000	10716256				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Annals of neurology. 2000 Mar;47(3):361-5	Association of early-onset Alzheimer's disease with an interleukin-1alpha gene polymorphism.		147760	3468	1	2000												
127830	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Sciacca FL et al. 2002	11777547				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of neuroimmunology. 2002 Jan;122(2-Jan):94-9	IL-1 genes in myasthenia gravis: IL-1A -889 polymorphism associated with sex and age of disease onset.		147760	3469	1	2002												
127831		multifetal pregnancy outcome.	OTHER	OTH	Fetal Membranes, Premature Rupture	2	2q14	IL1A	113247962	113259442		Kalish RB 2003	14586324				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			American journal of obstetrics and gynecology. 2003 Oct;189(4):911-4	Interleukin-1 receptor antagonist gene polymorphism and multifetal pregnancy outcome.		147760	3470	1	2003	 Fetal carriage of interleukin-1 receptor antagonist allele 2 was associated with both preterm premature rupture of membranes and neonatal morbidity in women with multifetal pregnancies.											
127832	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Joki-Erkkila VP 2003	14533660				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Annals of allergy, asthma & immunology. 2003 Sep;91(3):275-9	Allergic rhinitis and polymorphisms of the interleukin 1 gene complex.		147760	3471	1	2003	 The IL-1 gene complex polymorphism is strongly associated with allergic rhinitis in nonasthmatic individuals.	Cohort 405 nonasthmatic individuals of whom 56 had allergic rhinitis										
127825	N	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442	n	Gonzalez-Gay MA et al. 2002	12102486				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Clinical and experimental rheumatology. 2002 May-Jun;20(3):431	Lack of association between IL-1 cluster and TNF-alpha gene polymorphisms and giant cell arteritis.		147760	3464	1	2002												
127827	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Du Y et al. 2000	10953177				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Neurology. 2000 Aug;55(4):480-3	Association of an interleukin 1 alpha polymorphism with Alzheimer's disease.		147760	3466	1	2000	 The authors found an increased risk for AD with an estimated Mantel-Haenszel odds ratio of 1.68 (95% CI 1.1 to 2.6; p = 0.022) for heterozygous carriers and 7.2 (95% CI 2.0 to 24.5; p = 0.003) for individuals homozygous for IL-1A(-889) allele 2. They found no evidence for an interaction between the IL-1A and the apoE epsilon 4 polymorphisms (carriers and homozygotes), age, or gender with regard to conferred risk. The data strongly support an association between the IL-1A(-889) allele 2, especially in homozygotes, and later-onset AD.											
127828	Y	Severe Malaria	INFECTION	INF	Malaria|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442	0.03	Walley AJ. et al 2004	14673470			coding sequence	Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Gambia	Gambia	Christophe Aucan	3552	Hs.1722	Cerebral Malaria, Severe Malarial Anaemia, Mild Malaria		European journal of human genetics. 2004 Feb;12(2):132-8	Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case-control study		147760	3467	1	2004		Case:550; Control:550										
127820	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections	2	2q14	IL1A	113247962	113259442		Read RC et al. 2000	11023482				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			The Journal of infectious diseases. 2000 Nov;182(5):1557-60	An interleukin-1 genotype is associated with fatal outcome of meningococcal disease.		147760	3459	1	2000												
127821	Y	periodontitis	IMMUNE	IMM	Periodontitis|Dental Plaque	2	2q14	IL1A	113247962	113259442		Socransky SS et al. 2000	11073323				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of clinical periodontology. 2000 Nov;27(11):810-8	Microbiological parameters associated with IL-1 gene polymorphisms in periodontitis patients.		147760	3460	1	2000	 The data suggest that genotype positive subjects more frequently had higher levels of red and orange complex species that are known to be strongly associated with measures of periodontal inflammation.											
127823		periodontitis	IMMUNE	IMM	Periodontitis|Cardiovascular Diseases|Arteriosclerosis|Disease Susceptibility|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1A	113247962	113259442		Kornman KS et al. 1999	10685360				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of periodontal research. 1999 Oct;34(7):353-7	Interleukin-1 genotypes and the association between periodontitis and cardiovascular disease.		147760	3462	1	1999												
127824	Y	knee osteoarthritis	OTHER	OTH	Osteoarthritis, Hip|Osteoarthritis, Knee|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Loughlin J et al. 2002	12115182				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Arthritis and rheumatism. 2002 Jun;46(6):1519-27	Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis.		147760	3463	1	2002	 The IL-1 ligand cluster encodes for susceptibility to knee OA but not to hip OA, highlighting the genetic heterogeneity of this common, complex disease.											
127816	Y	acute pancreatitis	OTHER	OTH	Pancreatitis|Acute Disease	2	2q14	IL1RN	113573407	113608064		Smithies AM et al. 2000	10766448				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Pancreas. 2000 Apr;20(3):234-40	Investigation of the interleukin 1 gene cluster and its association with acute pancreatitis.		147679	3455	1	2000												
127817	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Nicoll JA et al. 2000	10716257				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Annals of neurology. 2000 Mar;47(3):365-8	Association of interleukin-1 gene polymorphisms with Alzheimer's disease.		147760	3456	1	2000												
127818		periodontitis	IMMUNE	IMM	Periodontitis|Disease Progression|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Armitage GC et al. 2000	10711606				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Chinese	United States|China	KGB	3552	Hs.1722			Journal of periodontology. 2000 Feb;71(2):164-71	Low prevalence of a periodontitis-associated interleukin-1 composite genotype in individuals of Chinese heritage.		147760	3457	1	2000	 It was concluded that the prevalences of both IL-1A and IL-1B polymorphisms are dramatically lower in Chinese than those reported for Europeans. Findings from this study bring into question the usefulness of the composite genotype of allele 2 of both IL-1A +4845 and IL-1B +3954 as a method for determining the susceptibility of Chinese patients to adult periodontitis.											
127819	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Zhong L et al. 2002	12362317				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		China	KGB	3552	Hs.1722			Zhonghua yi xue yi chuan xue za zhi. 2002 Oct;19(5):405-8	The association of interleukin-1 gene polymorphisms with the susceptibility to chronic periodontitis in Uighur		147760	3458	1	2002	 These results suggest that IL-1B+3953 allele 2 may be a risk indicator for the susceptibility to severe chronic periodontitis in Uighur minority in Xingjiang of China.	Case:41/42/49 severe chronic periodontitis (CP) patients (n=41), moderate CP patients (n=42), mild CP patients:(n=49):Xingjiang, China;Control:92 healthy controls										
127812	N	Longevity	AGING	AGE		2	2q14	IL1A	113247962	113259442	n	Wand XY 2001	11640949	IL1A- 889			Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Finnish		KGB	3552	Hs.1722			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			147760	3451	1	2001		Case:250; Control:400										
127813	N	Early Onset Periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Disease Susceptibility	2	2q14	IL1A	113247962	113259442	n	Hodge PJ 2001	11350506	IL1A- 889			Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	European Caucasians	Europe	KGB	3552	Hs.1722			Journal of clinical periodontology. 2001 May;28(5):430-6			147760	3452	1	2001	 The lack of any association between the IL1 polymorphisms and GEOP, in the population presented here, brings into doubt the usefulness of these candidate genes as markers of susceptibility to this form of periodontitis.	Case:56; Control:56										
127814		Alopecia areata	IMMUNE	IMM	Alopecia Areata	2	2q14	IL1A	113247962	113259442		Tazi-Ahnini R et al. 2001	11703512				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Heredity. 2001 Aug;87(Pt 2):215-9	Association analysis of IL1A and IL1B variants in alopecia areata.		147760	3453	1	2001	The results suggested the possibility of an association with IL1A+4845 in the overall dataset [OR 1.39 (95% CI 1.00, 1.93)] although this was not statistically significant. This was due mainly to the contribution from mild cases of alopecia areata [OR 1.48 (0.96, 2.29)], suggesting that IL-1alpha may have a particular role in the pathogenesis of this subgroup.	Control:1150 matched controls;Case:165 alopecia areata patients										
127815	N	Graves disease	IMMUNE	IMM	Graves Disease	2	2q14	IL1A	113247962	113259442	n	Cuddihy RM et al. 1996	8954062				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	caucasian		KGB	3552	Hs.1722			The Journal of clinical endocrinology and metabolism. 1996 Dec;81(12):4476-8	Lack of an association between alleles of interleukin-1 alpha and interleukin-1 receptor antagonist genes and Graves' disease in a North American Caucasian population.		147760	3454	1	1996	We conclude that  neither the A2 allele of the IL-1 receptor antagonist gene nor the IL-1 alpha exon 5 polymorphism confers increased susceptibility to GD.											
127808		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	2	2p24.3-p24.1	IL18RAP	102401685	102435456		Tiret, L.  et al. 2005	16043644				Interleukin 18 receptor accessory protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003853.2			CDC GDPinfo	8807	Hs.158315			Circulation. 2005 Aug;112(5):643-50	Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease.		604509	26258	2	2005	 Variations of the IL18 gene consistently influence circulating levels of IL-18 and clinical outcome in patients with coronary artery disease, which supports the hypothesis of a causal role of IL-18 in atherosclerosis and its complications.											
127809		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	1	1q32.2	IL19	205038837	205082948		Oleksyk, T. K.  et al. 2005	15815689				Interleukin 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153758.1	African American		CDC GDPinfo	29949	Hs.128395			Genes and immunity. 2005 Jun;6(4):347-57	Single nucleotide polymorphisms and haplotypes in the IL10 region associated with HCV clearance.		605687	22480	2	2005	Our results indicate that variants of the immunomodulatory IL10 and IL19/IL20 genes may be involved in natural clearance of HCV in the African-American population.	Case:108 European American HCV clearance cases;Control:183 chronically infected African American matched:controls;Control:245 chronically infected European American controls;Case:91 African American HCV clearance cases										
127810	Y	systemic sclerosis	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442	<0.0001	Kawaguchi Y 2003	12528118	haplotypes CTG and TCT and CCT and TTG and CCG and TTT			Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Japanese	Japan	KEW	3552	Hs.1722	severity		Arthritis and rheumatism. 2003 Jan;48(1):186-92			147760	3449	1	2003	 Our observations suggest that the CTG haplotype of the IL1A gene may be an important marker for the susceptibility to, and the severity of, SSc.	Case:60; Control:70										
127805		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular	11	11q22.2-q22.3	IL18	111519185	111540050		Nieters, A.  et al. 2005	15643599				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Cancer. 2005 Feb;103(4):740-8	Effect of cytokine genotypes on the hepatitis B virus-hepatocellular carcinoma association.		600953	26257	2	2005	 Diminished cell-mediated immune response, which is controlled genetically, appeared to be an important risk determinant of HBV-related hepatocellular carcinogenesis.	Control:250 hospital controls;Case:250 patients with incident hepatocellular carcinoma:Nanning, Guangxi, China										
127806		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	2	2q12	IL18R1	102345528	102381649		Tiret, L.  et al. 2005	16043644				Interleukin 18 receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003855.2			CDC GDPinfo	8809	Hs.469521			Circulation. 2005 Aug;112(5):643-50	Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease.		604494	24955	2	2005	 Variations of the IL18 gene consistently influence circulating levels of IL-18 and clinical outcome in patients with coronary artery disease, which supports the hypothesis of a causal role of IL-18 in atherosclerosis and its complications.											
127807		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	2	2q12	IL18R1	102345528	102381649		Saito, T.  et al. 2004	15063762				Interleukin 18 receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003855.2		Japan	CDC GDPinfo	8809	Hs.469521			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		604494	28483	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
127802	Y	atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	11	11q22.2-q22.3	IL18	111519185	111540050		Nieters, A.  et al. 2004	15005726				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Clinical and experimental allergy. 2004 Mar;34(3):346-53	Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.		600953	22478	2	2004	 Our data suggest an association of genetic variants in IL-6 and IL-2 with hayfever, confirm a role of polymorphisms in IL-4R, IL-13, and IL-18 for the elevated IgE phenotype, and add IL-6 to the list of candidate genes.	Case:322 subjects with hayfever from the European Prospective Investigation into Cancer and:Nutrition-Heidelberg;Control:322 age- and sex-matched controls										
127803		celiac disease	IMMUNE	IMM	Celiac Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Rueda, B.  et al. 2005	16078996				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		600953	24953	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
127804		hepatitis C; Schistosoma mansoni infection	INFECTION	INF	Hepatitis C, Chronic|Schistosomiasis mansoni	11	11q22.2-q22.3	IL18	111519185	111540050		El-Kady, I. M.  et al. 2005	15644127				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Scandinavian journal of immunology. 2005 Jan;61(1):87-91	Interleukin (IL)-4, IL-10, IL-18 and IFN-gamma cytokines pattern in patients with combined hepatitis C virus and Schistosoma mansoni infections		600953	24954	2	2005	In conclusion, schistosomiasis may downregulate the stimulatory effect of HCV on Th1 cytokines and this may lead to the chronicity of HCV infection in coinfected patients.	Case:10/15/10 patients infected with chronic HCV (n=20), patients infected with schisotosomiasis alone (n=15), and patients with chronic HCV and schistosomiasis:(n=10);Control:15 healthy control individuals matched for age and sex										
127799		nasopharyngeal cancer	CANCER	CAN	Epstein-Barr Virus Infections|Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease|Inflammation	11	11q22.2-q22.3	IL18	111519185	111540050		Pratesi, C.  et al. 2005	16059673				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Italian	Italy	CDC GDPinfo	3606	Hs.83077			Cancer immunology, immunotherapy. 2006 Jan;55(1):23-30	Interleukin-10 and interleukin-18 promoter polymorphisms in an Italian cohort of patients with undifferentiated carcinoma of nasopharyngeal type.		600953	22475	2	2005	 This study was performed to improve the definition of the pathogenetic factors implicated in UCNT by addressing the correlation between cytokine polymorphisms and clinical parameters. This is the first study investigating the possible role of the IL-18 and IL-10 polymorphisms in the development and outcome of UCNT. In our genetic analysis there is no evidence for involvement of IL-10 promoter polymorphisms alone in the genetic predisposition to this tumor. On the other hand, IL18 genetic variants may represent a genetic risk factor for tumor aggressiveness.											
127800	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Bushley, A. W.  et al. 2004	15581980				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Gynecologic oncology. 2004 Dec;95(3):672-9	Polymorphisms of interleukin (IL)-1alpha, IL-1beta, IL-6, IL-10, and IL-18 and the risk of ovarian cancer.		600953	22476	2	2004	 Overall, this study does not support an association of selected IL-1alpha, IL-1beta, IL-6, IL-10, or IL-18 polymorphisms with the risk for ovarian cancer. However, the IL-18 G137C variant may be a marker for ovarian cancer progression or metastasis.	Case:182 epithelial ovarian cancer cases;Control:219:controls										
127801	Y	latex allergy	IMMUNE	IMM	Latex Hypersensitivity|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Brown, R. H.  et al. 2005	15731584				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Anesthesiology. 2005 Mar;102(3):496-502	Genetic predisposition to latex allergy: role ofinterleukin 13 and interleukin 18.		600953	22477	2	2005	 The significant association of IL13 and IL18 promoter polymorphisms with latex allergy suggests a potential location for genetic control in the induction of latex allergy in individuals and extends the understanding of the genetic basis for the induction of immediate-type hypersensitivity in healthcare workers occupationally exposed to natural rubber latex.	Control nonatopic controls;Case:432 healthcare workers with occupational exposure to natural rubber latex										
127795	Y	bone marrow transplantation	IMMUNE	IMM		11	11q22.2-q22.3	IL18	111519185	111540050		Cardoso, S. M.  et al. 2004	15327523				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			British journal of haematology. 2004 Sep;126(5):704-10	Patient interleukin-18 GCG haplotype associates with improved survival and decreased transplant-related mortality after unrelated-donor bone marrow transplantation.		600953	17710	2	2004	These data suggest that the IL-18 promoter GCG haplotype may influence survival after unrelated donor BMT without altering the risk of aGVHD.	Cohort 157 patient/donor pairs undergoing unrelated donor bone marrow transplantation 										
127796		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Tiret, L.  et al. 2005	16043644				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Circulation. 2005 Aug;112(5):643-50	Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease.		600953	17713	2	2005	 Variations of the IL18 gene consistently influence circulating levels of IL-18 and clinical outcome in patients with coronary artery disease, which supports the hypothesis of a causal role of IL-18 in atherosclerosis and its complications.											
127798	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.2-q22.3	IL18	111519185	111540050		Ide, A.  et al. 2004	14709415				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Japanese	Japan	CDC GDPinfo	3606	Hs.83077			Journal of autoimmunity. 2004 Feb;22(1):73-8	Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes		600953	22474	2	2004	These results suggest that the IL-18 gene polymorphism is associated with a type 1 diabetes susceptibility, and there might be a gene-gene interaction between IL-18 gene with susceptible CTLA-4 gene.	Control:114 normal controls;Case:116 patients with type 1 diabetes										
127791		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Zhou, Y.  et al. 2005	16053025			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Jun;22(2):105-13	Roles of functional polymorphisms in the interleukin-18 gene promoter in sarcoidosis.		600953	11728	2	2005	 Our results indicate that the differences in the promoter activity according to promoter haplotypes of the IL-18 gene result in an altered protein expression in sarcoidosis. However, it is unlikely that the three SNPs examined confer susceptibility to sarcoidosis.											
127792		hepatitis B, chronic	INFECTION	INF		11	11q22.2-q22.3	IL18	111519185	111540050		Zhang, P.  et al. 2005	16215941			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Chinese		CDC GDPinfo	3606	Hs.83077			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):528-32	[Relationship of interleukin-18 gene promoter polymorphisms with chronic hepatitis B in Chinese Han population]		600953	11730	2	2005	 The polymorphisms of the promoter region of IL-18 gene at position -607C/A and -137G/C are correlated with chronic hepatitis B in Chinese Han population. The people with -137C allele in the promoter region of IL-18 gene may be protected against HBV infection, and the IL-18 -607AA genotype may be linked to HBV-DNA copy.											
127793	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Takagawa, T.  et al. 2005	16306765			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Japanese		CDC GDPinfo	3606	Hs.83077			Inflammatory bowel diseases. 2005 Dec;11(12):1038-43	Association Between IL-18 Gene Promoter Polymorphisms and Inflammatory Bowel Disease in a Japanese Population.		600953	11732	2	2005	 IL-18 gene promoter polymorphisms may not be associated with disease susceptibility but related to the extent of disease in UC.											
127787	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Novak, N.  et al. 2005	15806006				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			The Journal of allergy and clinical immunology. 2005 Apr;115(4):828-33	Single nucleotide polymorphisms of the IL18 gene are associated with atopic eczema.		600953	11724	2	2005	 In conclusion, our data suggest that SNPs in the IL18 gene might be involved in the development of AE by contributing to a functional dysregulation of the IL-18 production in vivo .	Control:175 ealthy control volunteers;Case:225 patients with atopic eczema										
127789	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease|Inflammation	11	11q22.2-q22.3	IL18	111519185	111540050		Rueda, B.  et al. 2005	15896202			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Tissue antigens. 2005 Jun;65(6):544-8	Interleukin-18-promoter polymorphisms are not relevant in rheumatoid arthritis.		600953	11726	2	2005	Our data suggest that -607 A/C (rs1946518) and -137 G/C (rs187238) polymorphisms within the IL-18-promoter region do not play a major role in RA predisposition.	Control:339 healthy controls;Case:362 unrelated rheumatoid arthritis patients										
127790	Y	asthma	IMMUNE	IMM	Asthma	11	11q22.2-q22.3	IL18	111519185	111540050		Shin, H. D.  et al. 2005	15932380				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Allergy. 2005 Jul;60(7):900-6	Association of interleukin 18 (IL18) polymorphisms with specific IgE levels to mite allergens among asthmatic patients.		600953	11727	2	2005	 The genetic relevance of IL18 to specific IgE might offer an important step in understanding the genetic background of allergic diseases.	Cohort individuals from a Korean asthma cohort 										
127784	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Martin, R. J.  et al. 2004	15674367			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2		Great Britain	CDC GDPinfo	3606	Hs.83077			Genes and immunity. 2005 Mar;6(2):171-4	Interleukin 18 promoter polymorphisms are not strongly associated with type I diabetes in a UK population.		600953	11721	2	2004	In conclusion, our data do not support the strong positive associations of IL18 promoter polymorphisms with type I diabetes reported in previous smaller studies.	Control:426:controls;Case:433 type 1 diabetics Northern Ireland										
127785	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Zhang, P. A.  et al. 2005	15786533			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Chinese		CDC GDPinfo	3606	Hs.83077			World journal of gastroenterology. 2005 Mar;11(11):1594-8	Association of polymorphisms of interleukin-18 gene promoter region with chronic hepatitis B in Chinese Han population.		600953	11722	2	2005	 The polymorphisms of the promoter region of IL-18 gene at position -607 and -137 are closely associated with susceptibility to chronic hepatitis B. The people with allele C at position -137 in the promoter of IL-18 gene may be protected against HBV infection; moreover AA genotype at position -607 may be closely linked to inhibit HBV-DNA replication. These findings give some new clues to the study of pathogenesis of chronic hepatitis B.	Case:231 patients with chronic hepatitis B;Control:300 normal controls										
127786	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.2-q22.3	IL18	111519185	111540050		Gracie, J. A.  et al. 2005	15789055			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2		Germany|Scotland	CDC GDPinfo	3606	Hs.83077			Genes and immunity. 2005 May;6(3):211-6	Disease association of two distinct interleukin-18 promoter polymorphisms in Caucasian rheumatoid arthritis patients.		600953	11723	2	2005	These observations suggest that SNP of both positions contribute to the genetic background of RA pathogenesis.	Control:283 healthy donors;Case:327 individuals from two independent cohorts from Germany (n=200) and Scotland (n=410) for whom genotyping was done Germany and Scotland										
127781		asthma; juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Asthma	11	11q22.2-q22.3	IL18	111519185	111540050		Heinzmann, A.  et al. 2004	15230817				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Allergy. 2004 Aug;59(8):845-9	Association study of polymorphisms within interleukin-18 in juvenile idiopathic arthritis and bronchial asthma.		600953	11718	2	2004	 We conclude that the effect of IL-18 in the immunologic context of diseases like bronchial asthma or juvenile arthritis might be too complex to be reflected in a simple one-way association study. Furthermore, the polymorphisms under investigation might be nonfunctional.	Control control individuals;Case asthmatic children and children with antinuclear antibodies (ANA)-positive juvenile idiopathic:arthritis										
127782	N	diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Novota, P.  et al. 2005	15585330			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2		Czech Republic	CDC GDPinfo	3606	Hs.83077			Immunology letters. 2005 Jan;96(2):247-51	Interleukin IL-18 gene promoter polymorphisms in adult patients with type 1 diabetes mellitus and latent autoimmune diabetes in adults.		600953	11719	2	2005	These results suggest that the IL-18 gene promoter polymorphisms are not associated with adult type 1 diabetes or LADA susceptibility, and according to our findings genes involved in onset and progression of LADA and T1DM are probably different.	Control:139 healthy controls;Case:49/66 adult type 1 diabetes (n=49) and latent autoimmune diabetes in adults (n=66)										
127783	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Aizawa, Y.  et al. 2005	15663745				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Tissue antigens. 2005 Jan;65(1):88-92	Association of interleukin-18 gene single-nucleotide polymorphisms with susceptibility to inflammatory bowel disease.		600953	11720	2	2005	It was concluded that SNPs at the 5'-end of IL-18 gene might be closely related to the etiology of IBD.	Control:102 healthy controls;Case:99/79 patients with ulcerative colitis (n=99) and patients with Crohn's disease (n=79)										
127778	Y	sepsis	INFECTION	INF	Infection|Wounds and Injuries	11	11q22.2-q22.3	IL18	111519185	111540050		Stassen, N. A.  et al. 2003	12947340			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Surgery. 2003 Aug;134(2):351-6	IL-18 promoter polymorphisms correlate with the development of post-injury sepsis.		600953	11714	2	2003	 This study supports the conclusion that IL-18 genetic promoter polymorphisms correlate with the development of postinjury sepsis. Further investigation is needed to identify the impact of variation in genotype across a range of genes involved in connected regulatory pathways.	Cohort trauma patients with an injury severity score of 16 or greater 										
127779	N	diabetes, type 1; hypothyroidism	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Ide, A.  et al. 2003	14679107			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Japanese		CDC GDPinfo	3606	Hs.83077			Annals of the New York Academy of Sciences. 2003 Nov;1005:436-9	Association of interleukin-18 gene promoter polymorphisms in type 1 diabetes and autoimmune thyroid disease.		600953	11715	2	2003	These results suggest that polymorphisms of the IL-18 gene are not associated with a susceptibility to AITD and type 1 diabetes coexistent with AITD in Japanese population.	Control:114 normal controls;Case:74/47 nondiabetic patients with AITD (n=74) and type 1 diabetic patients with AITD (n=47)										
127780	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Janssen, R.  et al. 2004	15140035				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Dutch, Japanese	Netherlands	CDC GDPinfo	3606	Hs.83077			Tissue antigens. 2004 Jun;63(6):578-83	No association between interleukin-18 gene polymorphisms and haplotypes in Dutch sarcoidosis patients.		600953	11717	2	2004	In conclusion, IL-18 polymorphisms do not appear to influence the susceptibility to sarcoidosis in Dutch Caucasians. Important differences in allele frequencies were observed between Japanese and Dutch sarcoidosis patients and controls.	Control:103:controls;Case:133 Dutch sarcoidosis patients										
127774	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.2-q22.3	IL18	111519185	111540050		Kretowski, A.  et al. 2002	12401730			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Diabetes. 2002 Nov;51(11):3347-9	Interleukin-18 promoter polymorphisms in type 1 diabetes.		600953	11710	2	2002	The genotype distribution differed significantly between patients with type 1 diabetes and control subjects. The difference reflected an increase in the GC genotypes and a decrease in GG genotypes at position -137 in the promoter of IL-18 gene. AA genotype at position -607 was found only in the control group. The results also demonstrated that the contribution of -137GC genotypes to genetic susceptibility to type 1 diabetes differs depending on the combination of IL-18 promotor gene haplotypes. Our study suggests the first evidence of an association between type 1 diabetes and polymorphisms in the promoter of IL-18 gene.	Case patients with type 1 diabetes;Control heatlhy control subjects										
127775		Still's disease	IMMUNE	IMM	Still's Disease, Adult-Onset|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Sugiura, T.  et al. 2002	12424620				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Genes and immunity. 2002 Nov;3(7):394-9	Association between adult-onset Still's disease and interleukin-18 gene polymorphisms.		600953	11711	2	2002	We therefore conclude that possession of the diplotype configuration of S01/S01 is a major genetic risk factor for susceptibility to AOSD	Case:144 rheumatoid arthritis patients;Control:92 healthy control individuals										
127777		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Higa, S.  et al. 2003	12911784	105A/C			Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Clinical and experimental allergy. 2003 Aug;33(8):1097-102	Association between interleukin-18 gene polymorphism 105A/C and asthma.		600953	11713	2	2003	 The 105A/C polymorphism of the IL-18 gene may be associated with the pathogenesis of asthma.	Case asthmatic patients;Control:controls										
127771	Y	asthma.	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Higa S 2003	12911784				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			KGB	3606	Hs.83077			Clinical and experimental allergy. 2003 Aug;33(8):1097-102	Association between interleukin-18 gene polymorphism 105A/C and asthma.		600953	3932	1	2003	 The 105A/C polymorphism of the IL-18 gene may be associated with the pathogenesis of asthma.	Case asthmatic patients;Control:controls										
127772	N	diabetes, type 1	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Ide A 2004	14679107				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Japanese		Y Wang	3606	Hs.83077			Annals of the New York Academy of Sciences. 2003 Nov;1005:436-9	Association of interleukin-18 gene promoter polymorphisms in type 1 diabetes and autoimmune thyroid disease		600953	3933	1	2003	These results suggest that polymorphisms of the IL-18 gene are not associated with a susceptibility to AITD and type 1 diabetes coexistent with AITD in Japanese population.	Control:114 normal controls;Case:74/47 nondiabetic patients with AITD (n=74) and type 1 diabetic patients with AITD (n=47)										
127773		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Takada, T.  et al. 2002	12366781				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Japanese	Japan	CDC GDPinfo	3606	Hs.83077			Tissue antigens. 2002 Jul;60(1):36-42	Association of single nucleotide polymorphisms in the IL-18 gene with sarcoidosis in a Japanese population		600953	11709	2	2002	In IL-18 gene polymorphisms, the C allele at position -607 might be a genetic risk factor for sarcoidosis in this Japanese population.	Case:119 pateints with sarcoidosis:Japan;Control:130 healthy control subjects										
127768	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	11	11q22.2-q22.3	IL18	111519185	111540050	0.001	Kruse S 2003	12532106	(-920[t/c], -133[c/g], and -132[a/g] in promoter 2 [upstream of exon 2]; +179[c/a; Ser35Ser] in exon 4; and +486[c/t; Phe137Phe] in exon 6).		other	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	oldest child in white families		KEW	3606	Hs.83077	sensitization to common allergens		The Journal of allergy and clinical immunology. 2003 Jan;111(1):117-22	Polymorphisms in the IL 18 gene are associated with specific sensitization to common allergens and allergic rhinitis.		600953	3929	1	2003	 IL18 might be responsible for the linkage effects seen in the chromosomal region 11q22, which has been found previously with the phenotype sensitization to mite allergen. Thus a suspected direct role of IL18 in the pathogenesis of atopy has been strengthened by the presence of 8 common SNPs in the promoter regions of IL18.	Case:105										
127769	Y	Still's disease	IMMUNE	IMM	Still's Disease, Adult-Onset|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Sugiura T et al. 2002	12424620				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			KGB	3606	Hs.83077			Genes and immunity. 2002 Nov;3(7):394-9	Association between adult-onset Still's disease and interleukin-18 gene polymorphisms.		600953	3930	1	2002	We therefore conclude that possession of the diplotype configuration of S01/S01 is a major genetic risk factor for susceptibility to AOSD	Case:144 rheumatoid arthritis patients;Control:92 healthy control individuals										
127770	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.2-q22.3	IL18	111519185	111540050	0.001	Nolan KF et al. 1998	12401730	(-920[t/c], -133[c/g], and -132[a/g] in promoter 2 [upstream of exon 2]; +179[c/a; Ser35Ser] in exon 4; and +486[c/t; Phe137Phe] in exon 6).			Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			Y Wang	3606	Hs.83077			Diabetes. 2002 Nov;51(11):3347-9	The human interleukin 18 gene IL18 maps to 11q22.2-q22.3, closely linked to theDRD2 gene locus and distinct from mapped IDDM loci		600953	3931	1	1998	The genotype distribution differed significantly between patients with type 1 diabetes and control subjects. The difference reflected an increase in the GC genotypes and a decrease in GG genotypes at position -137 in the promoter of IL-18 gene. AA genotype at position -607 was found only in the control group. The results also demonstrated that the contribution of -137GC genotypes to genetic susceptibility to type 1 diabetes differs depending on the combination of IL-18 promotor gene haplotypes. Our study suggests the first evidence of an association between type 1 diabetes and polymorphisms in the promoter of IL-18 gene.	Case patients with type 1 diabetes;Control heatlhy control subjects										
127764		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	15	15q26.3	IL16	79262254	79392157		Folwaczny, M.  et al. 2005	16178875	(-295 T-to-C)		promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3			CDC GDPinfo	3603	Hs.459095			Clinical and experimental immunology. 2005 Oct;142(1):188-92	Prevalence of the -295 T-to-C promoter polymorphism of the interleukin (IL)-16 gene in periodontitis.		603035	11706	2	2005												
127765	Y	asthma	IMMUNE	IMM	Asthma	15	15q26.3	IL16	79262254	79392157			16387589			promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3			CDC GDPinfo	3603	Hs.459095			The Journal of allergy and clinical immunology. 2006 Jan;117(1):86-91	Association of asthma with a functional promoter polymorphism in the IL16 gene		603035	11707	2	2006	 The T allele at the -295 position in the IL16 promoter region is associated with reduced promoter activity relative to the C allele and with asthma in this white population. Further investigation is needed to delineate the mechanisms underlying these findings and the relationship of the IL16 -295 genotype to asthma in other populations.											
127767	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p12	IL17F	52209442	52217257		Ramsey, C. D.  et al. 2005	15703761				Interleukin 17F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052872.3			CDC GDPinfo	112744	Hs.272295			Genes and immunity. 2005 May;6(3):236-41	Polymorphisms in the interleukin 17F gene (IL17F) and asthma.		606496	11708	2	2005	None of the SNPs or haplotypes tested in IL17F were associated with asthma. The polymorphisms identified in this study may be used in future studies of association between IL17F and phenotypes related to immune responses.	Case:asthmatics;Control control subjects										
127760		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q31	IL15	142777203	142874062		Barton, A.  et al. 2002	11981324				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1			CDC GDPinfo	3600	Hs.168132			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		600554	28339	2	2002	Review article											
127761	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	15	15q26.3	IL16	79262254	79392157		Glas J et al. 2003	12706406			promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3			KGB	3603	Hs.459095			Clinical immunology (Orlando, Fla). 2003 Mar;106(3):197-200	The -295T-to-C promoter polymorphism of the IL-16 gene is associated with Crohn's disease.		603035	3928	1	2003												
127763	N	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity	15	15q26.3	IL16	79262254	79392157		Akesson, L. S.  et al. 2005	15784111			promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3	Australian	Australia	CDC GDPinfo	3603	Hs.459095			Clinical and experimental allergy. 2005 Mar;35(3):327-31	A polymorphism in the promoter region of the human interleukin-16 gene is not associated with asthma or atopy in an Australian population.		603035	11705	2	2005	 Although it has been hypothesized that the T(-295)C promoter polymorphism may be associated with increased IL-16 gene expression, it is not associated with asthma, disease severity or atopy in this Australian population.	Control:176 random Australian Caucasian controls;Case:273/230/77 Australian Caucasian mild (n=273), moderate (n=230) and severe (n=77) asthmatic patients:Australia										
127757		lung function	OTHER	OTH		X	Xq24	IL13RA1	117745586	117823487		He, J. Q.  et al. 2003	12594065				Interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2			CDC GDPinfo	3597	Hs.496646			American journal of respiratory cell and molecular biology. 2003 Mar;28(3):379-85	Polymorphisms in the IL13, IL13RA1, and IL4RA genes and rate of decline in lung function in smokers.		300119	22471	2	2003	The IL4RA 551RR genotype was associated with rapid decline of lung function (odds ratio, 2.24; P = 0.043). However, none of the other four polymorphisms was associated with rate of decline in lung function. The association of 551RR with rapid decline of lung function became more significant in subjects who also had either the IL13 130RR or -1112TT genotypes. However, because multiple comparisons were made and only a few individuals had the 551RR genotype, these associations may represent type 1 error. Haplotypes consisting of alleles from the IL13 polymorphisms or from the IL4RA polymorphisms were not associated with rate of decline in lung function in smokers.	Cohort 588 continuing smokers chosen from the NHLBI lung Health Study 										
127758		asthma; eczema; allergic disease	IMMUNE	IMM	Hypersensitivity	4	4q31	IL15	142777203	142874062		Christensen, U.  et al. 2005	16333313				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1			CDC GDPinfo	3600	Hs.168132			European journal of human genetics. 2006 Feb;14(2):227-35	Family based association analysis of the IL2 and IL15 genes in allergic disorders		600554	17740	2	2005												
127759		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	4	4q31	IL15	142777203	142874062		Warle, M. C.  et al. 2002	12089714				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1			CDC GDPinfo	3600	Hs.168132			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		600554	27011	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
127753	Y	Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	X	Xq24	IL13RA1	117745586	117823487	P=0.021	Heinzmann A 2000	10699178	A1398G			interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2			KGB	3597	Hs.496646			Human molecular genetics. 2000 Mar;9(4):549-59			300119	3924	1	2000												
127754	N	Asthma	IMMUNE	IMM	Asthma	X	Xq24	IL13RA1	117745586	117823487	n	Ahmed S 2000	10686479	IL13R alpha			interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2		Japan	KCB	3597	Hs.496646			Experimental and clinical immunogenetics. 2000 ;17(1):18-22			300119	3925	1	2000												
127756		Asthma	IMMUNE	IMM	Asthma	X	Xq24	IL13RA1	117745586	117823487		Ahmed S 2000	10686479				interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2		Japan	KCB	3597	Hs.496646			Experimental and clinical immunogenetics. 2000 ;17(1):18-22			300119	3927	1	2000												
127749	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	5	5q31	IL13	132021763	132024700		Vasilescu, A.  et al. 2003	12944981				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		147683	26256	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
127750		Asthma	IMMUNE	IMM	Asthma	X	Xq24	IL13RA1	117745586	117823487		Ahmed S 2000	10686479				interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2		Japan	KCB	3597	Hs.496646			Experimental and clinical immunogenetics. 2000 ;17(1):18-22			300119	3921	1	2000												
127751	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	X	Xq24	IL13RA1	117745586	117823487	n	Heinzmann A 2000	10699178	A1398G			interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2			KCB	3597	Hs.496646			Human molecular genetics. 2000 Mar;9(4):549-59			300119	3922	1	2000												
127752	Y	Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	X	Xq24	IL13RA1	117745586	117823487	P=0.021	Heinzmann A 2000	10699178	A1398G			interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2	German		KGB	3597	Hs.496646			Human molecular genetics. 2000 Mar;9(4):549-59			300119	3923	1	2000												
127746		small for gestational age	UNKNOWN	UNK	Premature Birth	5	5q31	IL13	132021763	132024700		Engel, S. A.  et al. 2005	15951665				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		North Carolina	CDC GDPinfo	3596	Hs.845			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):478-86	Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.		147683	22470	2	2005	 Variants related to decreased anti-inflammatory cytokine production may lower risk of SGA. Furthermore, the same mechanism that protects against SGA might increase risk of spontaneous preterm birth.											
127747		atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Hoffjan, S.  et al. 2004	15007355				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2004 Mar;113(3):511-8	Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.		147683	24952	2	2004	 These data suggest that variations in genes involved in immune regulation are associated with biologic and clinical phenotypes in the first year of life that might increase the risk for the subsequent development of childhood asthma.	Cohort 207 European American children participating in the Childhood Origin of Asthma study 										
127748		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Warle, M. C.  et al. 2002	12089714				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		147683	26255	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
127742	N	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Tenbrock, K.  et al. 2002	11980568				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Clin Sci (Lond).. 2002 May;102(5):507-12	Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome.		147683	22466	2	2002	We conclude that  polymorphisms in the IL4 receptor, the high-affinity IgE receptor and IL13 do not seem to predict the clinical course of NS, despite the fact that serum IgE elevations are more frequent in patients with NS than in normal control subjects. The investigated polymorphisms may contribute to the IgE switch in patients with NS.	Control healthy controls;Case:78 atopic children with nephrotic syndrome (n=33) and nephrotic syndrome patients without atopy (n=45)										
127743		malaria; schistosomiasis	INFECTION	INF	Malaria, Cerebral|Schistosomiasis japonica|Liver Cirrhosis|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hirayama, K.   2002	12509099				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Asia	CDC GDPinfo	3596	Hs.845			The Korean journal of parasitology. 2002 Dec;40(4):165-72	Genetic factors associated with development of cerebral malaria and fibrotic schistosomiasis.		147683	22467	2	2002	We found no statistically significant associations with class I HLA-A but did find associations with class I HLA-B, which includes alleles associated with seronegativity (B8, B13, and B44) and those associated with seropositivity (B7 and B51). Elucidation of the specific peptide-HLA complex interactions that lead to varying or failed immune responses may provide fertile groundwork for improved vaccines that can overcome limitations of the current live, attenuated measles vaccine.											
127744		atopy	IMMUNE	IMM	Drug Hypersensitivity	5	5q31	IL13	132021763	132024700		Qiao, H. L.  et al. 2005	15969687				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Allergy. 2005 Aug;60(8):1053-9	Relationships between specific serum IgE, cytokines and polymorphisms in the IL-4, IL-4Ralpha in patients with penicillins allergy.		147683	22468	2	2005	 These data suggest that IL-4, IL-13 and IFN-gamma play an important roles in penicillins allergy. The IL-4RalphaQ576R polymorphism may involve in the development of penicillins allergy, and through modulating specific serum IgE levels.		penicillin									
127738		brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Asthma|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Schwartzbaum, J.  et al. 2005	16024651				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Cancer research. 2005 Jul;65(14):6459-65	Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.		147683	22462	2	2005												
127739		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hegab, A. E.  et al. 2004	15596681				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Egypt|Japan	CDC GDPinfo	3596	Hs.845			Chest. 2004 Dec;126(6):1832-9	Polymorphisms of IL4, IL13, and ADRB2 genes in COPD.		147683	22463	2	2004	 The ADRB2 + 79 C/G polymorphism and the haplotypes shown in this study may be involved in the pathogenesis of COPD.	Control:61/72 Japanese (n=61) AND Egyptian (n=72) controls;Case:88/106 Japanese (n=88) AND Egyptian (n=106) patients with chronic obstructive pulmonary disease										
127740		asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Moissidis, I.  et al. 2005	16024972				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	African American		CDC GDPinfo	3596	Hs.845			Genetics in medicine. 2005 Jul-Aug;7(6):406-10	Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.		147683	22464	2	2005	 African American asthmatics/atopics had higher frequency of the TT mutant gene for the -1055 IL-13 SNP and of its mutant T allele. Regarding the -444 LTC4S SNP, there was a definite difference, although not statistically significant, with an OR of 2.1 for the mutant AC genotype in patients. If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.											
127741		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31	IL13	132021763	132024700		Steck, A. K.  et al. 2005	16046318				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Diabetes. 2005 Aug;54(8):2482-6	Association of non-HLA genes with type 1 diabetes autoimmunity.		147683	22465	2	2005												
127734	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31	IL13	132021763	132024700		Maier, L. M.  et al. 2005	15660293				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			American journal of human genetics. 2005 Mar;76(3):517-21	No evidence of association or interaction between the IL4RA, IL4, and IL13 genes in type 1 diabetes.		147683	17758	2	2005	We did not find any single-locus associations with T1D and did not obtain evidence of gene-gene interaction. Additional support from independent samples will be even more important in the study of gene-gene interactions and other subgroup analyses.	Control:controls;Case type 1 diabetes cases		IL4RA		IL4		IL13		N		type 1 diabetes
127735		asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700			16387595				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese		CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2006 Jan;117(1):127-33	Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children		147683	17761	2	2006	 Our data suggest significant interactions between IL13 and IL4RA for asthma and IL13 and TARC for increased plasma total IgE concentrations in Chinese children.			IL13	R130Q	IL4RA (for asthma)		TARC (for increased plasma total IgE concentrations)	C-431T	Y		asthma and plasma total IgE concentration
127736		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Yang, Y.  et al. 2005	16195814				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese		CDC GDPinfo	3596	Hs.845			Journal of human genetics. 2005 ;50(11):574-82	Association study between the IL4, IL13, IRF1 and UGRP1 genes in chromosomal 5q31 region and Chinese Graves' disease.		147683	17826	2	2005												
127737	N	celiac disease	IMMUNE	IMM	Celiac Disease	5	5q31	IL13	132021763	132024700		Ryan, A. W.  et al. 2005	15713213				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Ireland	CDC GDPinfo	3596	Hs.845			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		147683	18715	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
127731	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Bugawan, T. L.  et al. 2003	12748907				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Philippines	CDC GDPinfo	3596	Hs.845			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos.		147683	17754	2	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
127732	Y	atopy	IMMUNE	IMM	Prenatal Exposure Delayed Effects	5	5q31	IL13	132021763	132024700		Liu, X.  et al. 2003	12897746				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Germany	CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2003 Aug;112(2):382-8	Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13, and IL4RA in German children: The GermanMulticenter Atopy Study		147683	17755	2	2003	 These findings suggest that variants C-1055T and Arg130Gln of the IL13 gene might play an important role on total serum IgE production in this study population.	Cohort 823 unrelated German children from a large infant cohort Germany 										
127733	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	5	5q31	IL13	132021763	132024700		Liu, X.  et al. 2004	15007352				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German	Germany	CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German MulticenterAtopy Study.		147683	17757	2	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study 	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal	IL4		IL13		IL4RA		Y	exposure to maternal smoking	atopy
127726		asthma; atopy; juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Hypersensitivity	5	5q31	IL13	132021763	132024700		Heinzmann, A.  et al. 2003	14564352				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2003 Oct;112(4):735-9	Association study of the IL13 variant Arg110Gln in atopic diseases and juvenile idiopathic arthritis.		147683	17708	2	2003	 This is the first study to compare the same gene variant in TH1 and TH2 chronic inflammatory diseases. The results suggest that the same gene variant might protect from one disease and make an individual susceptible to the other.	Control:controls;Case asthmatic children, atopic children and children with juvenile idiopathic arthritis										
127728	Y	latex allergy	IMMUNE	IMM	Latex Hypersensitivity|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Brown, R. H.  et al. 2005	15731584				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Anesthesiology. 2005 Mar;102(3):496-502	Genetic predisposition to latex allergy: role ofinterleukin 13 and interleukin 18.		147683	17712	2	2005	 The significant association of IL13 and IL18 promoter polymorphisms with latex allergy suggests a potential location for genetic control in the induction of latex allergy in individuals and extends the understanding of the genetic basis for the induction of immediate-type hypersensitivity in healthcare workers occupationally exposed to natural rubber latex.	Control nonatopic controls;Case:432 healthcare workers with occupational exposure to natural rubber latex										
127729	Y	malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	5	5q31	IL13	132021763	132024700		Ohashi, J.  et al. 2003	14551608			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Thai	Thailand	CDC GDPinfo	3596	Hs.845			Genes and immunity. 2003 Oct;4(7):528-31	A single-nucleotide substitution from C to T at position -1055 in the IL-13 promoter is associated with protection from severe malaria in Thailand		147683	17746	2	2003	Thus, IL-13 -1055T may show resistance to severe malaria through the alteration of IL-13 production.	Cohort 361 adult malaria patients Thailand 										
127722	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	5	5q31	IL13	132021763	132024700		Jiang, L.  et al. 2005	15820084				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	China	CDC GDPinfo	3596	Hs.845			Chinese medical journal. 2005 Apr;118(7):541-7	Association of gene polymorphisms of tumour necrosis factor-alpha and interleukin-13 with chronic obstructive pulmonary disease in Han nationality in Beijing.		147683	14361	2	2005	 There is no significant difference in the frequencies of the TT genotype of IL-13-1055 or the A allele of the TNF-alpha between Han Chinese patients with COPD versus control. Thus, it does not appear that these SNPs are independent factors in COPD for Han nationality in Beijing. However, these SNPs may increase the risk of COPD among smokers.	Case:111 chronic obstructive pulmonary disease patients:Beijing;Control:97 age matched controls	smoking (tobacco)									
127723	Y	onchocerciasis	OTHER	OTH	Onchocerciasis|Skin Diseases, Parasitic|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hoerauf, A.  et al. 2002	11825773				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Microbes and infection. 2002 Jan;4(1):37-42	The variant Arg110Gln of human IL-13 is associated with an immunologically hyper-reactive form of onchocerciasis (sowda).		147683	17705	2	2002	Logistic regression analysis revealed that IgE and IL-13 are independent variables, each increasing the relative risk for sowda. Arg110Gln has been suggested to lead to enhanced IL-13 signaling and thus may be involved in shifting the immune reaction towards the hyper-reactivity characteristic for the sowda form, thereby promoting defense mechanisms.	Cohort 111 individuals with onchocerciasis (n=19 with sowda form and n=92 with generlized form 										
127724	Y	asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		Arima, K.  et al. 2002	12063528				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			The Journal of allergy and clinical immunology. 2002 Jun;109(6):980-7	Upregulation of IL-13 concentration in vivo by the IL13 variant associated with bronchial asthma.		147683	17706	2	2002	 These results suggested that the variant might act as a functional genetic factor of bronchial asthma with a unique mechanism to upregulate local and systemic IL-13 concentration in vivo.	Cohort asthmatic patients 										
127718	Y	gastric atrophy	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Togawa, S.  et al. 2005	15904474				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Helicobacter. 2005 Jun;10(3):172-8	Interleukin-2 gene polymorphisms associated with increased risk of gastric atrophy from Helicobacter pylori infection.		147683	11815	2	2005	 These results reveal that the IL-2 gene polymorphism is associated with an increased risk of gastric atrophy induced by H. pylori infection and might predispose to gastric cancer.	Cohort 454 Japanese subjects 	Helicobacter pylori									
127719		penicillins allergy	IMMUNE	IMM	Drug Hypersensitivity	5	5q31	IL13	132021763	132024700			16315031				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			European journal of clinical pharmacology. 2005 Dec;61(11):803-9	Polymorphisms of IL-13 and IL-4-IL-13-SNPs in patients with penicillins allergy		147683	11834	2	2005	 These data suggests that IL-4-IL-13-SNP genes between IL-4 and IL-13 play a role in regulation of specific IgE levels in patients with penicillins allergy.											
127720	N	lung function	OTHER	OTH		5	5q31	IL13	132021763	132024700		He, J. Q.  et al. 2003	12594065				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			American journal of respiratory cell and molecular biology. 2003 Mar;28(3):379-85	Polymorphisms in the IL13, IL13RA1, and IL4RA genes and rate of decline in lung function in smokers.		147683	11838	2	2003	The IL4RA 551RR genotype was associated with rapid decline of lung function (odds ratio, 2.24; P = 0.043). However, none of the other four polymorphisms was associated with rate of decline in lung function. The association of 551RR with rapid decline of lung function became more significant in subjects who also had either the IL13 130RR or -1112TT genotypes. However, because multiple comparisons were made and only a few individuals had the 551RR genotype, these associations may represent type 1 error. Haplotypes consisting of alleles from the IL13 polymorphisms or from the IL4RA polymorphisms were not associated with rate of decline in lung function in smokers.	Cohort 588 continuing smokers chosen from the NHLBI lung Health Study 										
127715	Y	nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid	5	5q31	IL13	132021763	132024700		Wei, C. L.  et al. 2005	15728267				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	Singapore|China	CDC GDPinfo	3596	Hs.845			Nephrology, dialysis, transplantation. 2005 Apr;20(4):728-34	Interleukin-13 genetic polymorphisms in Singapore Chinese children correlate with long-term outcome of minimal-change disease.		147683	11701	2	2005	 These results suggest that genetic polymorphisms in the 3'UTR of the IL-13 gene correlate with long-term outcome of MCNS, rather than disease susceptibility, in Singapore Chinese children.	Case:72 Singapore Chinese children with minimal-change nephrotic syndrome:Singapore;Control:78 normal controls										
127716		asthma	IMMUNE	IMM		5	5q31	IL13	132021763	132024700		Wu, B.  et al. 2004	16200868	( - 1112c/T )			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Zhonghua jie he he hu xi za zhi. 2004 Oct;27(10):668-71	[Correlation of interleukin-13 gene - 1112c/T polymorphism with asthma and total plasma igE levels]		147683	11703	2	2004	 The - 1112 locus polymorphism of IL-13 gene promoter may be an important candidate gene for asthma Allele T is associated with asthma and increases the total plasma IgE level via enhanced											
127717	Y	atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Nieters, A.  et al. 2004	15005726				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Clinical and experimental allergy. 2004 Mar;34(3):346-53	Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.		147683	11811	2	2004	 Our data suggest an association of genetic variants in IL-6 and IL-2 with hayfever, confirm a role of polymorphisms in IL-4R, IL-13, and IL-18 for the elevated IgE phenotype, and add IL-6 to the list of candidate genes.	Case:322 subjects with hayfever from the European Prospective Investigation into Cancer and:Nutrition-Heidelberg;Control:322 age- and sex-matched controls										
127711	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hu, R. C.  et al. 2004	15308043				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese		CDC GDPinfo	3596	Hs.845			Zhonghua liu xing bing xue za zhi. 2004 Jul;25(7):607-11	[Study on the correlation of interleukin-13 polymorphism and susceptibility to chronic obstructive pulmonary disease in Chinese Han population]		147683	11697	2	2004	 The genotype of IL-13 1103C/T SNP site was associated with the susceptibility to COPD in Chinese Han population and 1103CC accounted for relative lower plasma IL-13 concentration and lower risk for COPD.	Case:88 chronic obstructive pulmonary disease smokers;Control:94 healthy smokers										
127712	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Xi, D.  et al. 2004	15315330				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese		CDC GDPinfo	3596	Hs.845			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(3):219-22	Association between IL-13 gene polymorphism and asthma in Han nationality in Hubei Chinese population.		147683	11698	2	2004	Our results suggest that the Arg110GlY polymorphism of IL-13 geYe is associated with susceptibility of asthma aYd elevated total plasma IgE iY ChiYese childreY of HaY YatioYality iY Hubei, but Yot with them iY adults.	Control:31/46 control children (n=31) and adults (n=46):CON;Case:43/45 Hubei Chinese asthmatic children (n=43) and adults:(n=45):China										
127713	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		He, B.  et al. 2004	15388001			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese		CDC GDPinfo	3596	Hs.845			Zhonghua jie he he hu xi za zhi. 2004 Aug;27(8):529-32	[The study of interleukin-13 gene promoter polymorphism in patients with chronic obstructive pulmonary disease]		147683	11699	2	2004	 TT genotype of IL-13-1055 is not an independent factor for COPD in Chinese Han people in Beijing, but increases the risk for smokers to develop COPD and the one who has COPD family history as well.	Case:111 Chinese Han chronic obstructive pulmonary disease:cases;Control:97 controls who had non-obstructive pulmonary disease	family history smoking (tobacco)									
127708	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	5	5q31	IL13	132021763	132024700		Wang, M.  et al. 2003	12928861	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	China	CDC GDPinfo	3596	Hs.845			Human genetics. 2003 Oct;113(5):387-90	A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis.		147683	11694	2	2003	Thus, our results suggest a possible involvement of IL-13 SNPs in the regulation of IgE production in response to allergens in this Chinese population.	Case:188 Chinese adult patients with allergic rhinitis;Control:87 normal controls										
127709		Graves' disease	IMMUNE	IMM	Eye Diseases|Graves Disease	5	5q31	IL13	132021763	132024700		Bednarczuk, T.  et al. 2003	14510917				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Clinical endocrinology. 2003 Oct;59(4):519-25	Interleukin-13 gene polymorphisms in patients with Graves' disease.		147683	11695	2	2003	 Our results suggest that IL-13 gene polymorphisms at positions -1112 (C-->T) and 2044 (G-->A): (1) do not confer genetic susceptibility to Graves' disease; (2) do not contribute to the development of clinically evident ophthalmopathy; (3) are not associated with severity of hyperthyroidism.	Control:168/50 healthy young subjects (n = 168) and subjects over 100 years old with no history of autoimmune or allergic diseases recruited from the Polish Centenarians Project (n = 50);Case:261 patients with Graves disease:Poland										
127710		asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		Sun, H.  et al. 2003	14669230				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):547-8	[The relationship between IL-13 gene polymorphism and the levels of serum IL-13 and serum eosinophil cation protein in asthmatic children]		147683	11696	2	2003	 The close relationship of IL-3 gene polymorphism with the levels of serum IL-13 and ECP suggests that IL-3 gene polymorphism may play an important role in the mechanism of childhood asthma.	Control normal controls;Case asthmatic children										
127704	Y	asthma; atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Howard, T. D.  et al. 2001	11588017				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Dutch	Netherlands	CDC GDPinfo	3596	Hs.845			American journal of respiratory cell and molecular biology. 2001 Sep;25(3):377-84	Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population.		147683	11690	2	2001	These results provide evidence that variation in the IL-13 gene is involved in the pathogenesis of asthma and atopy. Further investigation is required to determine which specific alleles or combination of alleles contribute to these phenotypes, and the possible downstream effects of the resulting change in IL-13 levels or activity.	Case:184 asthma probands;Control:184 spouses of asthma probands;Control:20 unaffected spouses;Case:20 asthma and atopy probands the Netherlands										
127705	Y	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Leung, T. F.  et al. 2001	11678850				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	Hong Kong	CDC GDPinfo	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	11691	2	2001	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127706	Y	asthma; dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q31	IL13	132021763	132024700		Tsunemi, Y.  et al. 2002	12413765	G4257A			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Japanese	Japan	CDC GDPinfo	3596	Hs.845			Journal of dermatological science. 2002 Nov;30(2):100-7	Interleukin-13 gene polymorphism G4257A is associated with atopic dermatitis in Japanese patients.		147683	11692	2	2002	This result suggests that 4257A allele is associated with susceptibility to AD and that it may function in the pathogenesis of AD itself, presumably by other mechanisms than inducing IgE production.	Control:controls;Case Japanese patients with atopic dermatitis										
127700	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	5	5q31	IL13	132021763	132024700		Wang M 2003	12928861	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	chinese	China	KGB	3596	Hs.845			Human genetics. 2003 Oct;113(5):387-90	A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis.		147683	3918	1	2003	Thus, our results suggest a possible involvement of IL-13 SNPs in the regulation of IgE production in response to allergens in this Chinese population.	Case:188 Chinese adult patients with allergic rhinitis;Control:87 normal controls										
127701		Graves' disease	IMMUNE	IMM	Eye Diseases|Graves Disease	5	5q31	IL13	132021763	132024700		Bednarczuk T 2003	14510917				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			Clinical endocrinology. 2003 Oct;59(4):519-25	Interleukin-13 gene polymorphisms in patients with Graves' disease.		147683	3919	1	2003	 Our results suggest that IL-13 gene polymorphisms at positions -1112 (C-->T) and 2044 (G-->A): (1) do not confer genetic susceptibility to Graves' disease; (2) do not contribute to the development of clinically evident ophthalmopathy; (3) are not associated with severity of hyperthyroidism.	Control:168/50 healthy young subjects (n = 168) and subjects over 100 years old with no history of autoimmune or allergic diseases recruited from the Polish Centenarians Project (n = 50);Case:261 patients with Graves disease:Poland										
127702	Y	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	5	5q31	IL13	132021763	132024700		Liu X 2004	15007352				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German	Germany	KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study.		147683	3920	1	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal	IL4		IL13		IL4RA		Y	exposure to maternal smoking	atopy
127696	Y	Graves disease	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	5	5q31	IL13	132021763	132024700		Graves PE et al. 2000	10719301				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2000 Mar;105(3):506-13	A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children.		147683	3914	1	2000	 These data suggest that the Arg130Gln polymorphism in IL-13, or others in close linkage with it, is associated with the development of the elevated serum IgE phenotype.											
127697	Y	immunologically hyper-reactive form of onchocerciasis (sowda)	OTHER	OTH	Onchocerciasis|Skin Diseases, Parasitic|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hoerauf A et al. 2002	11825773				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			Microbes and infection. 2002 Jan;4(1):37-42	The variant Arg110Gln of human IL-13 is associated with an immunologically hyper-reactive form of onchocerciasis (sowda).		147683	3915	1	2002	Logistic regression analysis revealed that IgE and IL-13 are independent variables, each increasing the relative risk for sowda. Arg110Gln has been suggested to lead to enhanced IL-13 signaling and thus may be involved in shifting the immune reaction towards the hyper-reactivity characteristic for the sowda form, thereby promoting defense mechanisms.	Cohort 111 individuals with onchocerciasis (n=19 with sowda form and n=92 with generlized form										
127699	Y	Atopy	IMMUNE	IMM	Prenatal Exposure Delayed Effects	5	5q31	IL13	132021763	132024700		Liu X 2003	12897746				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Germany	KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2003 Aug;112(2):382-8	Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13~~~ and IL4RA in German children: the German Multicenter Atopy Study.		147683	3917	1	2003	 These findings suggest that variants C-1055T and Arg130Gln of the IL13 gene might play an important role on total serum IgE production in this study population.	Cohort 823 unrelated German children from a large infant cohort Germany										
127692	Y	serum IgE levels	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Hypersensitivity	5	5q31	IL13	132021763	132024700	0.006	Heinzmann A 2003	14564352			coding sequence	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German		KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2003 Oct;112(4):735-9	Association study of the IL13 variant Arg110Gln in atopic diseases and juvenile idiopathic arthritis.		147683	3910	1	2003	 This is the first study to compare the same gene variant in TH1 and TH2 chronic inflammatory diseases. The results suggest that the same gene variant might protect from one disease and make an individual susceptible to the other.	Control:controls;Case asthmatic children, atopic children and children with juvenile idiopathic arthritis										
127693	Y	BHR	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P=0.003	Howard TD 2001	11588017	C-1111T			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Dutch	Netherlands	KGB	3596	Hs.845			American journal of respiratory cell and molecular biology. 2001 Sep;25(3):377-84	Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population.		147683	3911	1	2001	These results provide evidence that variation in the IL-13 gene is involved in the pathogenesis of asthma and atopy. Further investigation is required to determine which specific alleles or combination of alleles contribute to these phenotypes, and the possible downstream effects of the resulting change in IL-13 levels or activity.	Case:184 asthma probands;Control:184 spouses of asthma probands;Control:20 unaffected spouses;Case:20 asthma and atopy probands the Netherlands										
127695	Y	Total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P=0.000002	Graves PE 2000	11678850	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Hong Kong	KGB	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	3913	1	2000	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127688	N	Asthma. asthma severity	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	ns	Leung TF 2001	11678850	Arg130Gln		coding sequence	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	Hong Kong	T. F. Leung	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children		147683	3906	1	2001	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127689	Y	Total serum IgE. atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31	IL13	132021763	132024700	P<0.05	Liu X 2000	10887320	C-1055T			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2000 Jul;106(1 Pt 1):167-70			147683	3907	1	2000	 This IL13 coding region variant may be involved in the pathogenesis of AD and high total serum IgE level in a study population of white subjects.											
127690		Childhood Asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		DeMeo DL et al. 2002	12432502	ARG130GLN			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			Genetic epidemiology. 2002 Nov;23(4):335-48	Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management Program.		147683	3908	1	2002												
127691	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31	IL13	132021763	132024700		Tsunemi Y et al. 2002	12413765				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Japanese	Japan	KGB	3596	Hs.845			Journal of dermatological science. 2002 Nov;30(2):100-7	Interleukin-13 gene polymorphism G4257A is associated with atopic dermatitis in Japanese patients.		147683	3909	1	2002	This result suggests that 4257A allele is associated with susceptibility to AD and that it may function in the pathogenesis of AD itself, presumably by other mechanisms than inducing IgE production.	Control:controls;Case Japanese patients with atopic dermatitis										
127684	N	Atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	n	Heinzmann A 2000	10699178	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KGB	3596	Hs.845			Human molecular genetics. 2000 Mar;9(4):549-59			147683	3902	1	2000												
127686	N	Atopy (IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	n	Heinzmann A 2000	10699178	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German		KGB	3596	Hs.845			Human molecular genetics. 2000 Mar;9(4):549-59			147683	3904	1	2000												
127687	Y	Atopy (total & specific IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P<0.05	Leung TF 2001	11678850	Arg130Gln		coding sequence	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	Hong Kong	T. F. Leung	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children		147683	3905	1	2001	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127680	Y	BHR	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P=0.003	Howard TD 2001	11588017	C-1111T			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Netherlands	KGB	3596	Hs.845			American journal of respiratory cell and molecular biology. 2001 Sep;25(3):377-84	Identification and association of polymorphisms in the interleukin-13 gene with asthma and atopy in a Dutch population.		147683	3898	1	2001	These results provide evidence that variation in the IL-13 gene is involved in the pathogenesis of asthma and atopy. Further investigation is required to determine which specific alleles or combination of alleles contribute to these phenotypes, and the possible downstream effects of the resulting change in IL-13 levels or activity.	Case:184 asthma probands;Control:184 spouses of asthma probands;Control:20 unaffected spouses;Case:20 asthma and atopy probands the Netherlands										
127681	Y	Total serum IgE. atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31	IL13	132021763	132024700	P<0.05	Liu X 2000	10887320	C-1055T			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German		KGB	3596	Hs.845			The Journal of allergy and clinical immunology. 2000 Jul;106(1 Pt 1):167-70			147683	3899	1	2000	 This IL13 coding region variant may be involved in the pathogenesis of AD and high total serum IgE level in a study population of white subjects.											
127682	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700	n	Ober C 2000	11022011	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Hutterites	South Dakota	KCB	3596	Hs.845			American journal of human genetics. 2000 Nov;67(5):1154-62			147683	3900	1	2000												
127683	N	Asthma. asthma severity	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	n	Leung TF 2001	11678850	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Hong Kong	KCB	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	3901	1	2001	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127676	Y	Atopic asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	P=0.002	van der Pouw Kraan TC 1999	11197307	C to T at position -1055 (TT)			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Dutch		KCB	3596	Hs.845			Genes and immunity. 1999 Sep;1(1):61-5	An IL-13 promoter polymorphism associated with increased risk of allergic asthma		147683	3894	1	1999	We postulate that the presence of this polymorphism predisposes to the development of allergic asthma.											
127677	Y	Atopy (total & specific IgE)	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P<0.05	Leung TF 2001	11678850	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Chinese	Hong Kong	KGB	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	3895	1	2001	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127678	Y	Total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P=0.000002	Graves PE 2000	11678850	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Caucasian	Hong Kong	KGB	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	3896	1	2000	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127679	Y	asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	0.002	van der Pouw Kraan TC 1999	11197307	C to T at position -1055 (TT)			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KCB	3596	Hs.845			Genes and immunity. 1999 Sep;1(1):61-5	An IL-13 promoter polymorphism associated with increased risk of allergic asthma		147683	3897	1	1999	We postulate that the presence of this polymorphism predisposes to the development of allergic asthma.											
127671	Y	atopic asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	p=0.002	Noguchi E 2001	11704288	Haplotypes		5`promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KCB	3596	Hs.845			Human immunology. 2001 Nov;62(11):1251-7			147683	3889	1	2001												
127672	Y	Atopic asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	P=0.002	van der Pouw Kraan TC 1999	11197307	C to T at position -1055 (TT)			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KCB	3596	Hs.845			Genes and immunity. 1999 Sep;1(1):61-5	An IL-13 promoter polymorphism associated with increased risk of allergic asthma		147683	3890	1	1999	We postulate that the presence of this polymorphism predisposes to the development of allergic asthma.											
127673	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	0.017	Heinzmann A 2000	10699178	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KCB	3596	Hs.845			Human molecular genetics. 2000 Mar;9(4):549-59			147683	3891	1	2000												
127675	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P<0.05	Heinzmann A 2000	10699178	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			KCB	3596	Hs.845			Human molecular genetics. 2000 Mar;9(4):549-59			147683	3893	1	2000												
127666	N	Total serum IgE	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	n	Celedn JC 2002	11940068	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Costa Rica	KGB	3596	Hs.845			Clinical and experimental allergy. 2002 Mar;32(3):387-90			147683	3884	1	2002	 No significant evidence of linkage disequilibrium between an SNP in exon 4 of the IL-13 gene and total serum IgE level, sensitization to allergens or asthma was found in a family-based association study in Costa Rica.											
127667	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700	P<0.05	Heinzmann A 2000	10699178	Gln110Arg			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	German		KCB	3596	Hs.845			Human molecular genetics. 2000 Mar;9(4):549-59			147683	3885	1	2000												
127668	N	Total serum IgE	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	n	Celedn JC 2002	11940068	Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Costa Rica	KGB	3596	Hs.845			Clinical and experimental allergy. 2002 Mar;32(3):387-90			147683	3886	1	2002	 No significant evidence of linkage disequilibrium between an SNP in exon 4 of the IL-13 gene and total serum IgE level, sensitization to allergens or asthma was found in a family-based association study in Costa Rica.											
127663	N	leprosy	INFECTION	INF	Leprosy, Lepromatous|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Lee, S. B.  et al. 2003	12743658				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2	Korean	Korea	CDC GDPinfo	3595	Hs.479347			Immunogenetics. 2003 Jun;55(3):177-81	Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.		601642	24951	2	2003	In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.	Case:93 Korean lepromatous leprosy patients;Control:94 control subjects										
127664		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Akahoshi, M.  et al. 2004	15004750				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2		Japan	CDC GDPinfo	3595	Hs.479347			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		601642	27932	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127665	N	Total Serum IgE level	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700	n	Celedon JC 2002	11940068	IL- 13 +2044 or Arg130Gln			Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Costa Rica	Costa Rica	KGB	3596	Hs.845			Clinical and experimental allergy. 2002 Mar;32(3):387-90			147683	3883	1	2002	 No significant evidence of linkage disequilibrium between an SNP in exon 4 of the IL-13 gene and total serum IgE level, sensitization to allergens or asthma was found in a family-based association study in Costa Rica.											
127659		leprosy	INFECTION	INF	Leprosy, Lepromatous|Leprosy, Tuberculoid|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Ohyama, H.  et al. 2005	15976343				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2			CDC GDPinfo	3595	Hs.479347			Journal of clinical pathology. 2005 Jul;58(7):740-3	Polymorphism of the 5' flanking region of the IL-12 receptor beta2 gene partially determines the clinical types of leprosy through impaired transcriptional activity.		601642	11688	2	2005	 SNPs within the 5' flanking region of IL12RB2 affect the degree of expression of this gene and may be implicated in individual differences in CMI responsiveness to mycobacterial antigens, leading to lepromatous or tuberculoid leprosy.											
127660	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Kondo, N.  et al. 2001	11306945				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2			CDC GDPinfo	3595	Hs.479347			International archives of allergy and immunology. 2001 Jan-Mar;124(3-Jan):117-20	Reduced interferon-gamma production and mutations of the interleukin-12 receptor beta(2) chain gene in atopic subjects.		601642	17703	2	2001	 The results of our study indicate that atopic diseases are caused, in part, by impairment of the IL-12 signal cascade, which downregulates IgE production, and that the mutation of the IL-12R beta(2) chain gene is one of the causative genes for atopy.	Control:controls;Case:75 atopic patients										
127661		asthma	IMMUNE	IMM	Asthma	1	1p31.3-p31.2	IL12RB2	67545634	67635171		van Rietschoten, J. G.  et al. 2004	15140029			promoter	Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2			CDC GDPinfo	3595	Hs.479347			Tissue antigens. 2004 Jun;63(6):538-46	A novel polymorphic GATA site in the human IL-12Rbeta2 promoter region affects transcriptional activity.		601642	17704	2	2004	In conclusion, we have identified a novel polymorphic GATA site that may affect transciptional activity of the human IL-12Rbeta2 gene under GATA3-mediated, Th2-polarizing conditions.	Case allergic asthmatics;Control healthy control individuals										
127656		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	5	5q31.1-q33.1	IL12B	158674368	158690059		Akahoshi, M.  et al. 2004	15004750				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Japan	CDC GDPinfo	3593	Hs.674			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		161561	27489	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127657		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	5	5q31.1-q33.1	IL12B	158674368	158690059		Wang, C.  et al. 2004	15057902				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		161561	27750	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
127658	N	diabetes, type 1	IMMUNE	IMM	Asthma|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Bassuny WM 2004	12719941				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2	Japanese	Japan	Y Wang	3595	Hs.479347			Immunogenetics. 2003 Jun;55(3):189-92	Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population		601642	3882	1	2003	AS a result, we could not find a positive association of these polymorphisms with type 1 diabetes or asthma in the Japanese population.	Case:150/158 patients with type 1 diabetes (n=150) and with atopic asthma (n=158):Japan;Control:200 normal children										
127653		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		5	5q31.1-q33.1	IL12B	158674368	158690059		Trajkov, D.  et al. 2005	16100774				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		161561	22456	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
127654		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31.1-q33.1	IL12B	158674368	158690059		Birkisson, I. F.  et al. 2004	14962816				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			American journal of respiratory and critical care medicine. 2004 May;169(9):1007-13	Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma.		161561	22457	2	2004	We conclude that  decrease in Th1 type cytokine response is unlikely to present a primary event in asthma.	Case:94 patients with asthma;Control:94 control subjects without asthma										
127655		diabetes, type 1; Graves' disease; Hashimoto's thryroiditis	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1-q33.1	IL12B	158674368	158690059		Yang, J. M.  et al. 2005	16005098				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Japanese		CDC GDPinfo	3593	Hs.674			Diabetes research and clinical practice. 2006 Feb;71(2):164-9	Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: Possible rolein subjects without having high-risk HLA haplotypes.		161561	24950	2	2005												
127649		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Louka, A. S.  et al. 2002	11972887				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Italy|Scandinavia	CDC GDPinfo	3593	Hs.674			Tissue antigens. 2002 Jan;59(1):70-2	The IL12B gene does not confer susceptibility to coeliac disease		161561	17694	2	2002	We found no evidence for association of allele 1 to CD by the transmission/disequilibrium test or case-control approach.											
127650	Y	asthma	IMMUNE	IMM	Asthma	5	5q31.1-q33.1	IL12B	158674368	158690059		Randolph, A. G.  et al. 2004	15322986				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			American journal of human genetics. 2004 Oct;75(4):709-15	The IL12B gene is associated with asthma.		161561	17696	2	2004	IL12B may be an important asthma gene.	Case:177 adult moderate-to-severe asthmatics;Control:177 nonasthmatic controls										
127651	Y	asthma	IMMUNE	IMM	Asthma	5	5q31.1-q33.1	IL12B	158674368	158690059		Hirota, T.  et al. 2005	16210052				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Japan	CDC GDPinfo	3593	Hs.674			The Journal of allergy and clinical immunology. 2005 Oct;116(4):789-95	Functional haplotypes of IL-12B are associated with childhood atopic asthma.		161561	17697	2	2005	 Our results imply that functional haplotype CTCTAA-C, which affects the instability of transcripts and the lower transcriptional level of IL-12B, has a protective effect in childhood atopic asthma. On the basis of these findings, the IL-12B gene might be involved in the development of atopic asthma through functional genetic polymorphisms.											
127646		lupus erythematosus; lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Sanchez, E.  et al. 2005	15941730				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Rheumatology (Oxford, England). 2005 Sep;44(9):1136-9	Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.		161561	11684	2	2005	 These results suggest that polymorphisms located in IL12B, IL12RB1 and IL23A genes may not play a relevant role in the susceptibility or severity of SLE in the Spanish population.											
127647		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Orozco, G.  et al. 2005	15993716				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Human immunology. 2005 Jun;66(6):710-5	Interleukin 12 (IL12B) and interleukin 12 receptor (IL12RB1) gene polymorphisms in rheumatoid arthritis.		161561	11685	2	2005												
127648	N	celiac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	5	5q31.1-q33.1	IL12B	158674368	158690059		Seegers, D.  et al. 2003	14675396				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Netherlands	CDC GDPinfo	3593	Hs.674			European journal of immunogenetics. 2003 Dec;30(6):421-5	IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease.		161561	11953	2	2003	The IL12B TaqI and the IRF1 HinfI gene polymorphisms do not appear to be involved in susceptibility to CD. Further studies on the factors that drive the Th1 immunopathology in CD are required.	Control:237 ethnically matched healthy controls;Case:258 Dutch celiac disease patients										
127643	N	psoriasis	IMMUNE	IMM		5	5q31.1-q33.1	IL12B	158674368	158690059		Stanilova, S.  et al. 2005	15858599			3' UTR	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Genes and immunity. 2005 Jun;6(4):364-6	Taq-I polymorphism in 3'UTR of the IL-12B and association with IL-12p40 production from human PBMC.		161561	11678	2	2005	No significant differences of genotype and allele frequencies were observed between these groups.	Cohort individuals from two Bulgarian ethnic groups-Bulgarians and Turkish minority 										
127644	Y	hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic	5	5q31.1-q33.1	IL12B	158674368	158690059		Houldsworth, A.  et al. 2005	15871664				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Journal of interferon & cytokine research. 2005 May;25(5):271-6	Polymorphisms in the IL-12B Gene and Outcome of HCV Infection		161561	11679	2	2005	Our findings support the concept that an individual's genetically determined ability to produce IL-12 is another factor that can influence the outcome of HCV infection.	Cohort 195 HCV antibody-positive patients; 123 chronically infected with detectable HCV RNA, and 72 with spontaneously resolved infection 										
127645	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	5	5q31.1-q33.1	IL12B	158674368	158690059		Momiyama, Y.  et al. 2005	15988104			3' UTR	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Circulation journal. 2005 Jul;69(7):793-7	Polymorphism of the 3'-untranslated region of interleukin-12 p40 gene is not associated with the presence or severity of coronary artery disease.		161561	11680	2	2005	 Polymorphism of IL-12 p40 gene was not found to be associated with the presence or severity of CAD, suggesting that it does not play an important role in the development of this disease.											
127640		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1-q33.1	IL12B	158674368	158690059		Windsor, L.  et al. 2004	15603869			3' UTR	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Western Australia	CDC GDPinfo	3593	Hs.674			Human immunology. 2004 Dec;65(12):1432-6	Alleles of the IL12B 3'UTR associate with late onset of type 1 diabetes.		161561	11675	2	2004	The effects of IL12B 3'untranslated region alleles on type 1 diabetes mellitus may reflect different levels of p40 available to form p40 homodimer, IL-12 (p35p40), and IL-23 (p19p40).	Control:246 population-based controls;Case:648 subjects with type 1 diabetes stratified by age of:diagnosis Western Australia										
127641	N	peptic ulcer	OTHER	OTH	Helicobacter Infections|Peptic Ulcer Hemorrhage|Peptic Ulcer|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Garcia-Gonzalez, M. A.  et al. 2005	15620465				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Human immunology. 2005 Jan;66(1):72-6	Lack of association of IL-12 p40 gene polymorphism with peptic ulcer disease.		161561	11676	2	2005	Our data reveal that the IL12B 1188 (A-->C) gene polymorphism is not involved in defining the genetic basis of the susceptibility to and final outcome of peptic ulcer disease.	Control:107 healthy controls;Case:184 unrelated white Spanish patients with peptic ulcer										
127642	N	Graves' disease; Hashimoto's thryoiditis	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	5	5q31.1-q33.1	IL12B	158674368	158690059		Ikeda, Y.  et al. 2004	15644581				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Japanese	Japan	CDC GDPinfo	3593	Hs.674			Endocrine journal. 2004 Dec;51(6):609-13	Lack of association between IL-12B gene polymorphism and autoimmune thyroid disease in Japanese patients.		161561	11677	2	2004	Our results suggest that IL-12B gene polymorphisms were unlikely to have an effect on the development of Hashimoto's thyroiditis or Graves' disease in Japanese patients.	Control:123 healthy controls;Case:90/103 Japanese patients with Graves' disease (n=90) and Hashimoto's thyroiditis (n=103)										
127637	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Tso, H. W.  et al. 2004	15295696				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Chinese	Hong Kong	CDC GDPinfo	3593	Hs.674			The Journal of infectious diseases. 2004 Sep;190(5):913-9	Associations between IL12B Polymorphisms and Tuberculosis in the Chinese Population		161561	11672	2	2004	 These findings support the association between IL12B intron 2 polymorphism and TB and between specific IL12B haplotypes and TB.	Control:514 healthy control subjects;Case:516 patients with Tuberculosis:China										
127638	N	hepatitis C, chronic	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic	5	5q31.1-q33.1	IL12B	158674368	158690059		Mueller, T.  et al. 2004	15464247				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Journal of hepatology. 2004 Oct;41(4):652-8	Influence of interleukin 12B (IL12B) polymorphisms on spontaneous and treatment-induced recovery from hepatitis C virus infection.		161561	11673	2	2004	 IL12B 3'-UTR 1188-C-allele carriers appear to be capable of responding more efficiently to antiviral combination therapy as a consequence of a reduced relapse rate. No association of IL12B polymorphisms and self-limited HCV infection could be demonstrated.	Case:186/501 individuals with spontaneous HCV clearance (n=186) and chronically HCV infected patients (n=501);Control:217 healthy controls	antiviral combination therapy									
127639	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Zwiers, A.  et al. 2004	15483662				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Genes and immunity. 2004 Dec;5(8):675-7	Definition of polymorphisms and haplotypes in the interleukin-12B gene: association with IL-12production but not with Crohn's disease.		161561	11674	2	2004	The lack of association with IL12B makes it unlikely that this gene is directly involved in the susceptibility to CD.	Case Crohn's disease cases;Control:controls										
127634	N	asthma	IMMUNE	IMM	Asthma	5	5q31.1-q33.1	IL12B	158674368	158690059		Khoo, S. K.  et al. 2004	15007350			promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			The Journal of allergy and clinical immunology. 2004 Mar;113(3):475-81	Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of age.		161561	11669	2	2004	 In this long-term study of asthmatic subjects with comprehensive data on asthma severity, we found no evidence to support the presence of a heterozygote effect of the IL12B promoter polymorphism on the level of asthma in early childhood or adulthood. The polymorphism was also not associated with asthma susceptibility, but the CTCTAA allele may have been associated with elevated serum IgE levels in male subjects and reduced pulmonary function in female subjects in early childhood.	Cohort 401/83 7-year-old children (n=401, 106 control children, 295 asthmatic children) and 10-year-old children with severe asthma were recruited from a 1957 birth cohort (n=83) 										
127635	N	psoriasis	IMMUNE	IMM	Psoriasis	5	5q31.1-q33.1	IL12B	158674368	158690059		Litjens, N. H.  et al. 2004	15102082			promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			The Journal of investigative dermatology. 2004 Apr;122(4):923-6	Psoriasis is not associated with IL-12p70/IL-12p40 production and IL12B promoter polymorphism.		161561	11670	2	2004	Together, psoriasis is not associated with a promoter polymorphism in the IL12B gene nor with the production of IL-12p70 by LPS-stimulated blood cells.	Control healthy volunteers;Case psoriasis patients										
127636	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C	5	5q31.1-q33.1	IL12B	158674368	158690059		Yin, L. M.  et al. 2004	15285014				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			World journal of gastroenterology. 2004 Aug;10(16):2330-3	Association of interleukin-12 p40 gene 3'-untranslated region polymorphism and outcome of HCV infection		161561	11671	2	2004	 The polymorphism of IL12B (1188A/C) appears to have some influence on the outcome of HCV infection.	Cohort 133 patients who had been infected with HCV for 12-25 (18.2+/-3.8) years 										
127631		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Seegers, D.  et al. 2002	12424624				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Genes and immunity. 2002 Nov;3(7):419-23	A TaqI polymorphism in the 3'UTR of the IL-12 p40 gene correlates with increased IL-12 secretion.		161561	11666	2	2002	While this polymorphism does not appear to be correlated with susceptibility to CD in the limited population of patients tested here, it could influence the occurrence of the disease in certain subsets of patients.	Control:145 ethnically matched healthy controls;Case:150 Crohn's disease patients										
127632	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		McCormack, R. M.  et al. 2002	12424627				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Genes and immunity. 2002 Nov;3(7):433-5	The IL12B 3' untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes.		161561	11667	2	2002	Our results do not support earlier reports of an association between allele 1 in the 3'UTR of the IL12B gene and type 1 diabetes.	Case:120 cases of early-onset type 1 diabetes;Control:330:controls										
127633	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Ma, X.  et al. 2003	14551880			3' UTR	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			The Journal of infectious diseases. 2003 Oct;188(8):1116-8	No Evidence for Association between the Polymorphism in the 3' Untranslated Region of Interleukin-12B and Human Susceptibility to Tuberculosis		161561	11668	2	2003	Our results suggest that IL-12B 3' UTR has no effect or has a negligible effect on human susceptibility to TB.	Case adult patients with TB from 2 ethnicities, African American and white										
127628	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Nistico, L.  et al. 2002	11978670				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Italian	Italy	CDC GDPinfo	3593	Hs.674			Diabetes. 2002 May;51(5):1649-50	IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study		161561	11663	2	2002	no evidence of association with the disease was found	Case:470 Italian type 1 diabetic patients;Control:544 matched control subjects										
127629	Y	asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	5	5q31.1-q33.1	IL12B	158674368	158690059		Morahan, G.  et al. 2002	12241719			promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Lancet. 2002 Aug;360(9331):455-9	Association of IL12B promoter polymorphism with severity of atopic and non-atopic asthma in children.		161561	11664	2	2002	Our data suggest that IL12B promoter heterozygosity contributes to asthma severity rather than susceptibility per se. The severity-predisposing genotype was associated with reduced interleukin 12 p40 gene transcription and decreased interleukin 12 p70 secretion.Interpretation Interleukin 12 plays a key part in antagonism of T helper 2 differentiation, and in induction of antiviral host defense. Genetically determined attenuation of interleukin-12 response capacity would, therefore, provide a plausible common immunological pathway to disease severity for the two major forms of asthma.	Cohort 411 6-year old children 										
127630	Y	psoriasis; dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Psoriasis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Tsunemi, Y.  et al. 2002	12413772				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDPinfo	3593	Hs.674			Journal of dermatological science. 2002 Nov;30(2):161-6	Interleukin-12 p40 gene (IL12B) 3'-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris.		161561	11665	2	2002	This suggests that IL12B SNP is associated with susceptibility to AD and PsV, presumably by affecting the Th1/Th2 balance.	Control:100 healthy individuals;Case:164/143 atopic dermatitis (n=164) and psoriasis vulgaris:(n=143) patients										
127625		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Morahan G 2004	11175794				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			Y Wang	3593	Hs.674			Nature genetics. 2001 Feb;27(2):218-21	Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele.		161561	3878	1	2004												
127626		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Bergholdt R 2004	15060115				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			Y Wang	3593	Hs.674			Journal of medical genetics. 2004 Apr;41(4):e39	Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.		161561	3879	1	2004												
127627		arthritis; felty's syndrome; large granular lymphocyte syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Felty's Syndrome|Multiple Sclerosis|Lymphocytosis|Immune System Diseases|Syndrome	5	5q31.1-q33.1	IL12B	158674368	158690059		Hall, M. A.  et al. 2000	11196715				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Great Britain|Greece	CDC GDPinfo	3593	Hs.674			Genes and immunity. 2000 Feb;1(3):219-24	Genetic polymorphism of IL-12 p40 gene in immune-mediated disease		161561	11662	2	2000	This new genetic marker could be useful in anthropological studies and should be investigated in other autoimmune, allergic, inflammatory and infectious diseases.	Case patients with rheumatoid arthritis, Felty's syndrome or large granular lymphocyte syndrome with arthritis or multiple sclerosis;Control not specified in abstract:Cohort healthy UK Caucasoids and an African group										
127622		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Tabone T 2004	12700597				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			Y Wang	3593	Hs.674			Genes and immunity. 2003 Apr;4(3):222-7	Definition of polymorphisms in the gene encoding the interleukin-12 receptor B1 subunit: testing linkage disequilibrium with Type I diabetes susceptibility		161561	3875	1	2003												
127623		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Johansson S 2004	11685474				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Norway	Norway	Y Wang	3593	Hs.674			Immunogenetics. 2001 Sep;53(7):603-5	The polymorphism in the 3' untranslated region of IL12B has a negligible effect on the susceptibility to develop type 1 diabetes in Norway		161561	3876	1	2004												
127624		Asthma	IMMUNE	IMM	Asthma	5	5q31.1-q33.1	IL12B	158674368	158690059		Khoo SK 2004	15007350			5' promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			KGB	3593	Hs.674			The Journal of allergy and clinical immunology. 2004 Mar;113(3):475-81	Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of age.		161561	3877	1	2004	 In this long-term study of asthmatic subjects with comprehensive data on asthma severity, we found no evidence to support the presence of a heterozygote effect of the IL12B promoter polymorphism on the level of asthma in early childhood or adulthood. The polymorphism was also not associated with asthma susceptibility, but the CTCTAA allele may have been associated with elevated serum IgE levels in male subjects and reduced pulmonary function in female subjects in early childhood.	Cohort 401/83 7-year-old children (n=401, 106 control children, 295 asthmatic children) and 10-year-old children with severe asthma were recruited from a 1957 birth cohort (n=83)										
127618	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1-q33.1	IL12B	158674368	158690059		Davoodi-Semiromi A et al. 2002	12086971				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	caucasian	United States	KGB	3593	Hs.674			Diabetes. 2002 Jul;51(7):2334-6	IL-12p40 is associated with type 1 diabetes in Caucasian-American families.		161561	3871	1	2002												
127619	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Akahoshi M 2003	12596048	allele 2 R214-T365-R378			Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Japanese	Japan	KEW	3593	Hs.674			Human genetics. 2003 Mar;112(3):237-43			161561	3872	1	2003		Case:98; Control:197										
127621	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Nistico L 2004	11978670				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Italian	Italy	Y Wang	3593	Hs.674			Diabetes. 2002 May;51(5):1649-50	IL12B polymorphism and type 1 diabetes in the Italian population: a case-control study		161561	3874	1	2004	no evidence of association with the disease was found	Case:470 Italian type 1 diabetic patients;Control:544 matched control subjects										
127615	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059	n	McCormack RM et al. 2002	12424627			3' untranslated	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			KGB	3593	Hs.674			Genes and immunity. 2002 Nov;3(7):433-5	The IL12B 3' untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes.		161561	3868	1	2002	Our results do not support earlier reports of an association between allele 1 in the 3'UTR of the IL12B gene and type 1 diabetes.	Case:120 cases of early-onset type 1 diabetes;Control:330:controls										
127616	Y	asthma (childhood)	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	5	5q31.1-q33.1	IL12B	158674368	158690059	<0?0001	Morahan G et al. 2002	12241719		reduced expression	promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Caucasoid		KGB	3593	Hs.674			Lancet. 2002 Aug;360(9331):455-9	Association of IL12B promoter polymorphism with severity of atopic and non-atopic asthma in children.		161561	3869	1	2002	Our data suggest that IL12B promoter heterozygosity contributes to asthma severity rather than susceptibility per se. The severity-predisposing genotype was associated with reduced interleukin 12 p40 gene transcription and decreased interleukin 12 p70 secretion.Interpretation Interleukin 12 plays a key part in antagonism of T helper 2 differentiation, and in induction of antiviral host defense. Genetically determined attenuation of interleukin-12 response capacity would, therefore, provide a plausible common immunological pathway to disease severity for the two major forms of asthma.	Cohort 411 6-year old children										
127617	Y	psoriasis	IMMUNE	IMM	Dermatitis, Atopic|Psoriasis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Tsunemi Y et al. 2002	12413772			3' untranslated	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			KGB	3593	Hs.674			Journal of dermatological science. 2002 Nov;30(2):161-6	Interleukin-12 p40 gene (IL12B) 3'-untranslated region polymorphism is associated with susceptibility to atopic dermatitis and psoriasis vulgaris.		161561	3870	1	2002	This suggests that IL12B SNP is associated with susceptibility to AD and PsV, presumably by affecting the Th1/Th2 balance.	Control:100 healthy individuals;Case:164/143 atopic dermatitis (n=164) and psoriasis vulgaris:(n=143) patients										
127611		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Barton, A.  et al. 2002	11981324				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		161560	28289	2	2002	Review article											
127612	N	Asthma. allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059	n	Noguchi E 2001	11704807	ins-4G-4475. Glu186Asp. Ser226Asn. A1188C			Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Japan	KCB	3593	Hs.674			Genes and immunity. 2001 Nov;2(7):401-3			161561	3865	1	2001												
127614	N	Asthma. allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059	n	Noguchi E 2001	11704807	ins-4G-4475. Glu186Asp. Ser226Asn. A1188C			Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Japan	KCB	3593	Hs.674			Genes and immunity. 2001 Nov;2(7):401-3			161561	3867	1	2001												
127608		longevity	AGING	AGE		3	3p12-q13.2	IL12A	161189322	161196500		Ross, O. A.  et al. 2003	12633940				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Irish		CDC GDPinfo	3592	Hs.673			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		161560	24949	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
127609		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Martin, A. M.  et al. 2003	14566095				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		161560	26254	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
127610		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	3	3p12-q13.2	IL12A	161189322	161196500		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		161560	27488	2	2002	Review article											
127605		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Cinek, O.  et al. 2004	15170937				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Czech	Czech Republic	CDC GDPinfo	3592	Hs.673			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		161560	24946	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
127606		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		3	3p12-q13.2	IL12A	161189322	161196500		Trejaut, J. A.  et al. 2004	15361128				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		161560	24947	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
127607		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		3	3p12-q13.2	IL12A	161189322	161196500		De Capei, M. U.  et al. 2003	12558814				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		161560	24948	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
127602		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	3	3p12-q13.2	IL12A	161189322	161196500		Lan, Q.  et al. 2005	16230423				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		161560	24943	2	2005												
127603	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	3	3p12-q13.2	IL12A	161189322	161196500		Vasilescu, A.  et al. 2003	12944981				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		161560	24944	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
127604		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular	3	3p12-q13.2	IL12A	161189322	161196500		Nieters, A.  et al. 2005	15643599				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Cancer. 2005 Feb;103(4):740-8	Effect of cytokine genotypes on the hepatitis B virus-hepatocellular carcinoma association.		161560	24945	2	2005	 Diminished cell-mediated immune response, which is controlled genetically, appeared to be an important risk determinant of HBV-related hepatocellular carcinogenesis.	Control:250 hospital controls;Case:250 patients with incident hepatocellular carcinoma:Nanning, Guangxi, China										
127599		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Howell, W. M.  et al. 2003	14675394				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		161560	22452	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
127600	N	aphthous stomatitis	UNKNOWN	UNK	Stomatitis, Aphthous|Genetic Predisposition to Disease|Recurrence	3	3p12-q13.2	IL12A	161189322	161196500		Bazrafshani, M.  et al. 2003	14629328				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			Oral diseases. 2003 Nov;9(6):287-91	Polymorphisms in the IL-10 and IL-12 gene cluster and risk of developing recurrent aphthous stomatitis		161560	22453	2	2003	 We were unable to demonstrate an association between the inheritance of specific IL-10 or IL-12 gene polymorphisms and RAS susceptibility.	Case:100 recurrent aphthous stomatitis patients;Control:91 ethnically matched controls										
127601		cytokine production	UNKNOWN	UNK		3	3p12-q13.2	IL12A	161189322	161196500		Yilmaz, V.  et al. 2005	15863393				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Turkish		CDC GDPinfo	3592	Hs.673			Cytokine. 2005 May;30(4):188-94	IL-12 and IL-10 polymorphisms and their effects on cytokine production.		161560	22454	2	2005	IL10 -2763 and -3575 SNPs did not show any effect on in vitro secretion levels, whereas the association of proximal promoter -1082 SNP with IL-10 production is confirmed. IL10 proximal and distal promoter SNP distribution with estimated haplotype variations has implicated considerable similarities with the Caucasian populations in Turkey.	Cohort 152 individuals Turkey 										
127596	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	9	9p13	IL11RA	34640698	34651884		Niino, M.  et al. 2001	11498264				Interleukin 11 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Japanese	Japan	CDC GDPinfo	3590	Hs.591088			Journal of neuroimmunology. 2001 Aug;118(2):295-9	Genetic polymorphisms of IL-1beta and IL-1 receptor antagonist in association with multiple sclerosis in Japanese patients.		600939	11758	2	2001	Together, our findings suggest that IL-1beta or IL-1ra gene polymorphisms may not be relevant in the susceptibility to MS or the clinical characteristics of Japanese patients with MS.	Control:104 healthy controls;Case:98 MS patients:Japan										
127597		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	9	9p13	IL11RA	34640698	34651884		Donn, R. P.  et al. 2001	11315919				Interleukin 11 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	3590	Hs.591088			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		600939	26253	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
127598		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p12-q13.2	IL12A	161189322	161196500		Birkisson, I. F.  et al. 2004	14962816				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDPinfo	3592	Hs.673			American journal of respiratory and critical care medicine. 2004 May;169(9):1007-13	Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma.		161560	17695	2	2004	We conclude that  decrease in Th1 type cytokine response is unlikely to present a primary event in asthma.	Case:94 patients with asthma;Control:94 control subjects without asthma										
127593	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	19	19q13.3-q13.4	IL11	60567568	60573626		Klein, W.  et al. 2002	12486609				Interleukin 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000641.2			CDC GDPinfo	3589	Hs.467304			Genes and immunity. 2002 Dec;3(8):494-6	A polymorphism in the IL11 gene is associated with ulcerative colitis.		147681	11658	2	2002	PCR-SSCP aYalysis of the codiYg regioY revealed a siYgle polymorphism iY exoY 4 leadiYg to aY amiYo acid exchaYge (G335A; R112H), Yot sigYificaYtly associated with either disease. DiYucleotide repeat frequeYcies of the IL11.A1 allele aYd of IL11.A1 homozygous iYdividuals were sigYificaYtly iYcreased amoYg the patieYts with UC (P<0.002 aYd (P<0.003, respectively) but Yot with CD. Altered expressioY of IL11 appears to be iYvolved iY the geYetic predispositioY of UC.	Case:222/152 patients with Crohn's disease (n=222) and ulcerative colitis (n=152);Control:400 healthy controls										
127594	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	19	19q13.3-q13.4	IL11	60567568	60573626		Klein, W.  et al. 2004	15004839				Interleukin 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000641.2			CDC GDPinfo	3589	Hs.467304			Electrophoresis. 2004 Mar;25(6):804-8	A promotor polymorphism in the Interleukin 11 gene is associated with chronic obstructive pulmonary disease.		147681	11659	2	2004	Tight linkage of this microsatellite allele with another polymorphism in the promotor region was established. Altered expression of IL 11 may be involved in the genetic predisposition to COPD.	Case:153 patients with COPD (25 non-smokers);Control:463 healthy controls	smoking (tobacco)									
127595	Y	silicosis	IMMUNE	IMM	Silicosis	9	9p13	IL11RA	34640698	34651884		Yucesoy, B.  et al. 2001	11241561	(-137 (G/C)			Interleukin 11 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDPinfo	3590	Hs.591088			American journal of industrial medicine. 2001 Mar;39(3):286-91	Polymorphisms of the IL-1 gene complex in coal miners with silicosis		600939	11735	2	2001	 This is the first report showing an association between the IL-1RA (+ 2018) polymorphism and silicosis, and suggests that this polymorphism may confer increased risk for the development of the disease.	Control:163 controls without any apparent inflammation or other pulmonary disease;Case:318 Caucasian cases confirmed histopathologically with pulmonary silicosis										
127590		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	11	11q23	IL10RA	117362318	117377404		Saito, T.  et al. 2004	15063762				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2		Japan	CDC GDPinfo	3587	Hs.504035			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		146933	28442	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
127591		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	21	21q22.1-q22.2	IL10RB	33524100	33591390		Lin, M. T.  et al. 2005	16109775				Interleukin 10 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000628.3			CDC GDPinfo	3588	Hs.512211			Blood. 2005 Dec;106(12):3995-4001	Genetic variation in the IL-10 pathway modulates severity of acute graft-versus-host disease following hematopoietic cell transplantation:synergism between IL-10 genotype of patient and IL-10 receptor {beta} genotype of donor.		123889	22451	2	2005												
127592	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	19	19q13.3-q13.4	IL11	60567568	60573626		Klein W et al. 2002	12486609				Interleukin 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000641.2			KGB	3589	Hs.467304			Genes and immunity. 2002 Dec;3(8):494-6	A polymorphism in the IL11 gene is associated with ulcerative colitis.		147681	3864	1	2002	PCR-SSCP aYalysis of the codiYg regioY revealed a siYgle polymorphism iY exoY 4 leadiYg to aY amiYo acid exchaYge (G335A; R112H), Yot sigYificaYtly associated with either disease. DiYucleotide repeat frequeYcies of the IL11.A1 allele aYd of IL11.A1 homozygous iYdividuals were sigYificaYtly iYcreased amoYg the patieYts with UC (P<0.002 aYd (P<0.003, respectively) but Yot with CD. Altered expressioY of IL11 appears to be iYvolved iY the geYetic predispositioY of UC.	Case:222/152 patients with Crohn's disease (n=222) and ulcerative colitis (n=152);Control:400 healthy controls										
127587		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462			16323127				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		124092	27487	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
127588	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Donaldson, P. T.  et al. 2002	12100571				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		124092	27749	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
127589	Y	cirrhosis	OTHER	OTH	Hepatitis C|Liver Cirrhosis|Genetic Predisposition to Disease	11	11q23	IL10RA	117362318	117377404		Hofer, H.  et al. 2005	15729365	G330R			Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2			CDC GDPinfo	3587	Hs.504035			Genes and immunity. 2005 May;6(3):242-7	Bi-allelic presence of the interleukin-10 receptor 1 G330R allele is associated with cirrhosis in chronic HCV-1 infection.		146933	11657	2	2005	Our work implies that IL-10R1 SNP4 is a recessively inherited risk factor for hepatic cirrhosis in HCV genotype-1 infection.	Control healthy controls;Case:212 patients with hepatitis C virus infection										
127583		malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Aucan, C.  et al. 2003	12761564				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Gambia	CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		124092	27009	2	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127585		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	1	1q31-q32	IL10	205007570	205012462		Tsao, B. P.   2002	12126589				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		124092	27485	2	2002	Review article											
127586		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	1	1q31-q32	IL10	205007570	205012462		Wang, C.  et al. 2004	15057902				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		124092	27486	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
127579	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1q31-q32	IL10	205007570	205012462		Park, B. L.  et al. 2004	15607028				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Korean	Korea	CDC GDPinfo	3586	Hs.193717			Journal of biochemistry and molecular biology. 2004 Nov;37(6):691-9	Association of interleukin 10 haplotype with low bone mineral density in Korean postmenopausal women		124092	27005	2	2004	Our results suggest that variants of IL10 might play a role in the decreased BMD, although additional study might need to be followed-up in a more powerful cohort.	Cohort 370 Korean postmenopausal women 										
127581		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	1	1q31-q32	IL10	205007570	205012462		Rocha, V.  et al. 2002	12393699				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		124092	27007	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
127582		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	1	1q31-q32	IL10	205007570	205012462		Helbig, K. J.  et al. 2003	12595908				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		124092	27008	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
127576		kidney transplant complications	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462			16378074				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		124092	26250	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
127577		melanoma	CANCER	CAN	Melanoma	1	1q31-q32	IL10	205007570	205012462		Liu, D.  et al. 2005	15709194				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Clinical cancer research. 2005 Feb;11(3):1237-46	Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study.		124092	26251	2	2005	 Cytokine gene polymorphisms predicted clinical outcome for advanced melanoma patients who received biochemotherapy. The combined effects of multiple genetic polymorphisms may provide more accurate prognostic information. Additional independent studies are needed to confirm these pilot findings.	Cohort 90 patients with stage IV melanoma treated with biochemotherapy, including cisplatin, vinblastine, and dacarbazine combined with interleukin (IL)-2 and IFN-alpha either with or without tamoxifen 	cisplatin dacarbazine IFN-alpha interleukin (IL)-2 tamoxifen vinblastine									
127578		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Inoue, T.  et al. 2002	12020266				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese		CDC GDPinfo	3586	Hs.193717			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		124092	26252	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
127572		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Festa, F.  et al. 2005	15914210				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		124092	26246	2	2005												
127573		Chagas Disease	INFECTION	INF	Chagas Disease	1	1q31-q32	IL10	205007570	205012462		Moreno, M.  et al. 2004	15191519				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		124092	26247	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
127574		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	1	1q31-q32	IL10	205007570	205012462		Hoffmann, S.  et al. 2004	15458467				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		124092	26248	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
127569		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Donn, R. P.  et al. 2001	11315919				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		124092	24941	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
127570		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	1	1q31-q32	IL10	205007570	205012462		Hattori, H.  et al. 2002	12420205				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese		CDC GDPinfo	3586	Hs.193717			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		124092	24942	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
127571		meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q31-q32	IL10	205007570	205012462		van Der Pol, W. L.  et al. 2001	11740730				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2001 Dec;184(12):1548-55	Relevance of Fcgamma receptor and interleukin-10 polymorphisms for meningococcal disease.		124092	26245	2	2001	These data provide further evidence for the association of polymorphic genes on chromosome 1 and meningococcal disease.	Control:183 first-degree relatives of meningococcal disease:patients;Control:239 healthy controls subjects;Case:50 patients with meningococcal disease										
127566		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	1	1q31-q32	IL10	205007570	205012462		Upperman, J. S.  et al. 2005	15718915				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American		CDC GDPinfo	3586	Hs.193717			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		124092	24938	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
127567		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Warle, M. C.  et al. 2002	12089714				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		124092	24939	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
127568		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	1	1q31-q32	IL10	205007570	205012462		Nieters, A.  et al. 2001	11354638				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	German	Germany	CDC GDPinfo	3586	Hs.193717			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		124092	24940	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
127563		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Klausz, G.  et al. 2005	16165702				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Scandinavian journal of gastroenterology. 2005 Oct;40(10):1197-204	Polymorphism of the heat-shock protein gene Hsp70-2, but not polymorphisms of the IL-10 and CD14 genes, is associated with the outcome of Crohn's disease.		124092	24935	2	2005	 Allele A of the Hsp70-2 gene may be associated with a less severe form of CD, suggesting the clinical value of the genotype assessment. The genetic determination of the defense mechanisms in CD appears to be associated with the polymorphism of the Hsp70-2 gene rather than that of the CD14 or IL-10 genes.											
127564		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	1	1q31-q32	IL10	205007570	205012462		Rosner, S. A.  et al. 2005	16184405				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		124092	24936	2	2005			smoking (tobacco)									
127565		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Martin, A. M.  et al. 2003	14566095				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		124092	24937	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
127559	Y	infertility, tubal factor	REPRODUCTION	REP	Chlamydia Infections|Fallopian Tube Diseases|Infertility, Female	1	1q31-q32	IL10	205007570	205012462		Kinnunen, A. H.  et al. 2002	12151439				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human reproduction (Oxford, England). 2002 Aug;17(8):2073-8	HLA DQ alleles and interleukin-10 polymorphism associated with Chlamydia trachomatis-related tubal factor infertility: a case-control study.		124092	24931	2	2002	 Our results reveal an association of a cellular immune response to CHSP60, HLA class II alleles and IL-10 promoter genotypes in patients with chlamydial TFI.	Case:52 tubal factor infertility cases;Control:61:controls	Chlamydia trachomatis									
127560		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	1	1q31-q32	IL10	205007570	205012462		Forre, O.  et al. 2002	12195624				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		124092	24932	2	2002	Review article											
127561	Y	Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease|Recurrence	1	1q31-q32	IL10	205007570	205012462		Wang, C.  et al. 2005	15747244				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2005 Apr;191(7):1084-92	Human leukocyte antigen and cytokine gene variants as predictors of recurrent Chlamydia trachomatis infection in high-risk adolescents.		124092	24933	2	2005	Consistent with the observed IL10 association, cervical secretions in female adolescents without the IL10 G-C-C haplotype had elevated IL-10 concentrations after Chlamydia infection, which may reflect involvement of a Chlamydia-specific mechanism for genetically mediated, differential IL-10 expression in the genital tract.	Cohort 485 North American adolescents at high risk for genital Chlamydia trachomatis infection 										
127556		aortic stenosis	CARDIOVASCULAR	CARD	Aortic Valve Stenosis|Calcinosis|Fibrosis	1	1q31-q32	IL10	205007570	205012462		Ortlepp, J. R.  et al. 2004	15039132				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European heart journal. 2004 Mar;25(6):514-22	The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis		124092	24928	2	2004	 Calcification of stenotic aortic valves consists of Ca-deficient hexagonal hydroxyapatite. Gender and genetic polymorphisms have an impact on the degree of aortic valve calcification.	Cohort 187 individuals whose stenotic aortic valve was excised 										
127557		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Luomala, M.  et al. 2003	14616291				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Acta neurologica Scandinavica. 2003 Dec;108(6):396-400	Promoter polymorphism of IL-10 and severity of multiple sclerosis.		124092	24929	2	2003	Our results suggest that differential production of IL-10 might be a factor in the severity of MS.	Control:109,400:controls;Case:93,116 multiple sclerosis patients										
127558	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Wang, C.  et al. 2004	15021309				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		124092	24930	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
127553		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Middleton, P. G.  et al. 2002	12203138				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Bone marrow transplantation. 2002 Aug;30(4):223-8	Vitamin D receptor gene polymorphism associates with graft-versus-host disease and survival in HLA-matched sibling allogeneic bone marrow transplantation.		124092	22450	2	2002	Analysis of VDR genotype in prospective BMT donors may identify individuals who have greater transplant-related mortality, and also allow appropriately restricted use of increased immunosuppressive prophylaxis.	Cohort HLA-matched sibling bone marrow transplant recipients 	immunosuppressive agents									
127554		kidney transplant	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Lacha, J.  et al. 2005	15848524				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		124092	24926	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
127555		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	1	1q31-q32	IL10	205007570	205012462		Silverberg, M. J.  et al. 2004	14742283				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		United States	CDC GDPinfo	3586	Hs.193717			American journal of epidemiology. 2004 Feb;159(3):232-41	Fraction of cases of acquired immunodeficiency syndrome prevented by the interactions of identified restriction gene variants.		124092	24927	2	2004	Overall, 30% of potential AIDS cases were prevented by the observed combinations of restriction genes	Cohort 525 US men with HIV-1 seroconversion 1984-1996 										
127550		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Lio, D.  et al. 2005	15979955				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Digestive and liver disease. 2005 Oct;37(10):756-60	TNFalpha, IFNgamma and IL-10 gene polymorphisms in a sample of Sicilian patients with coeliac disease.		124092	22447	2	2005	 Genetically determined higher frequencies of -308A tumour necrosis factor alpha and +874T interferon gamma alleles, both in hetero and in homozygosis and mostly whether simultaneous, may play a role in predisposing to gluten intolerance. Subjects positive for -308A tumour necrosis factor alpha and +874T interferon gamma alleles have an increased risk for coeliac disease.											
127551		celiac disease	IMMUNE	IMM	Celiac Disease|Down Syndrome|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Cataldo, F.  et al. 2005	16182624				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Digestive and liver disease. 2005 Dec;37(12):923-7	Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.		124092	22448	2	2005	 Single nucleotide polymorphisms of IFNgamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFalpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.											
127552	Y	hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic|Liver Cirrhosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Mangia, A.  et al. 2004	14698136				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cytokine. 2004 Feb;25(3):103-9	IL-10 haplotypes as possible predictors of spontaneous clearance of HCV infection		124092	22449	2	2004	 Our findings indicate that heterogeneity in the promoter region of the IL-10 gene has a role in determining a spontaneous favourable outcome of HCV infection.	Control:145 controls sharing the same ethnic background;Case:270 hepatitis C patients										
127546		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Alcoholism	1	1q31-q32	IL10	205007570	205012462		Schneider, A.  et al. 2004	15066699				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Alcohol (Fayetteville, NY). 2004 Jan;32(1):19-24	Analysis of tumor necrosis factor-alpha, transforming growth factor-beta 1, interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis.		124092	22443	2	2004	We did not find an association between the different genotypes and the clinical course of the disease. Therefore, we assume that these genetic variants do not play a dominant role in alcoholic chronic pancreatitis.	Case:42 patients with alcoholic chronic pancreatitis;Control:94/73 control subjects for the TNF polymorphism (n=94) and for the other polymorphisms (n=73)										
127547		cardiomyopathy; heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Diseases|Disease Progression	1	1q31-q32	IL10	205007570	205012462		Webber, S. A.  et al. 2002	15773449				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cardiology in the young. 2002 Oct;12(5):461-4	Polymorphisms in cytokine genes do not predict progression to end-stage heart failure in children.		124092	22444	2	2002	 No evidence is found to support the hypothesis that these polymorphisms for cytokine genes influence progression to end-stage heart failure in children undergoing transplantation because of cardiomyopathy or congenital heart disease.	Cohort 94 heart transplanted children 										
127548		pregnancy loss, recurrent	OTHER	OTH	Abortion, Habitual	1	1q31-q32	IL10	205007570	205012462		Daher, S.  et al. 2003	12609526				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Brazil	CDC GDPinfo	3586	Hs.193717			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		124092	22445	2	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregnancy loss patients										
127543		diabetes, type 1	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Siekiera, U.  et al. 2002	12818128				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego. 2002 ;8(1):29-34	[Polymorphism of TNF-alpha (308 A/G), IL-10 (1082 A/G, 819 C/T 592 A/C), IL-6 (174 G/C), and IFN-gamma (874 A/T); genetically conditioned cytokine synthesis level in children with diabetes type 1]		124092	22440	2	2002	 It is possible to us molecular method to estimate the genetically controlled immune reactivity. It is a very important immunogenetic factor of the disease predisposition.	Case:36 children with type 1 diabetes;Control:36 healthy individuals										
127544		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Fibrosis|Inflammation	1	1q31-q32	IL10	205007570	205012462		Schneider, A.  et al. 2004	15316224				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Pancreatology. 2004 ;4(6):490-4	Transforming growth factor-beta1, interleukin-10 and interferon-gamma cytokine polymorphisms in patients with hereditary, familial and sporadic chronic pancreatitis.		124092	22441	2	2004	 These genetic variants do not play a dominant role in hereditary, familial or sporadic chronic pancreatitis.	Control:73:controls;Case:78/62 patients with hereditary and familial pancreatitis (n=78) and patients with sporadic pancreatitis (n=62) that were tested negative for cationic trypsinogen gene mutations										
127545	Y	heart transplant complications	OTHER	OTH		1	1q31-q32	IL10	205007570	205012462		Plaza, D. M.  et al. 2003	12909463				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of heart and lung transplantation. 2003 Aug;22(8):851-6	Cytokine gene polymorphisms in heart transplantation: association of low IL-10production genotype with Quilty effect		124092	22442	2	2003	 These results suggest that genetically controlled decreased IL-10 production predisposes to the development of Quilty lesions. The decreased negative regulatory effect of IL-10 on T cells and macrophages may result in enhanced graft infiltration.	Cohort 71 heart transplant recipients Dec 1985 - Dec, 2000 										
127540	Y	lung transplant complications	OTHER	OTH	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Zheng, H. X.  et al. 2004	15135368				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of heart and lung transplantation. 2004 May;23(5):541-6	Interleukin-10 production genotype protects against acute persistent rejection after lung transplantation.		124092	22437	2	2004	 In lung transplant recipients, the increased IL-10 production genotype protects against acute persistent rejection when compared with the intermediate or decreased IL-10 production genotypes. The intermediate IL-10 production genotype in lung transplant recipients can be differentiated into 2 haplotype responses, with the GCC/ACC haplotype associated more with acute persistent rejection. In lung transplant recipients, the immunomodulatory effects of IL-6 are differentiated in the G/C and G/G alleles in conjunction with IL-10 haplotypes, with G/C being associated with more acute persistent rejection in conjunction with the IL-10 GCC/ACC haplotype. Future pharmacogenomic models may incorporate these associations with acute persistent rejection in lung transplant recipients to formulate individualized therapeutic regimens.	Cohort 119 adult lung tranplantation recipients who underwent surveillance transbronchial biopsies during their first year after transplantation 										
127541		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Pain|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Oen, K.  et al. 2005	15901906				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Rheumatology (Oxford, England). 2005 Sep;44(9):1115-21	Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis.		124092	22438	2	2005	 The correlation of IL-6 genotype with pain and the possible association of the TGF-beta1 codon 25 genotype with short-term radiographic damage (G/C with greater risk and G/G with decreased risk) suggests that both these polymorphisms may be useful early prognostic indicators. Further studies of the relation between cytokine genotypes and outcomes in patients with all forms of juvenile idiopathic arthritis (JIA) are warranted.	Cohort patients with juvenile rheumatoid arthritis who previously participated in a long-term outcome study 										
127542		leukemia, acute myeloid; longevity; myelodysplasia	CANCER	CAN		1	1q31-q32	IL10	205007570	205012462		Poli, F.  et al. 2002	12047360				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian		CDC GDPinfo	3586	Hs.193717			European journal of immunogenetics. 2002 Jun;29(3):237-40	Allele frequencies of polymorphisms of TNFA, IL-6, IL-10 and IFNG in an Italian Caucasian population.		124092	22439	2	2002	The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.	Cohort 363 healthy Italian Caucasians 										
127536	Y	tuberculosis	INFECTION	INF	Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	1	1q31-q32	IL10	205007570	205012462		Henao, M. I.  et al. 2005	15925543				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Colombian		CDC GDPinfo	3586	Hs.193717			Tuberculosis (Edinburgh, Scotland). 2006 Jan;86(1):9-Nov	Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis.		124092	22433	2	2005	Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.	Case:140/30/20 patients with pulmonary TB (n=140), with pleural TB (n=30) and with miliary TB (n=20);Control:54/81 tuberculin-negative healthy controls (n=54) and tuberculin-positive heatlhy controls (n=81)										
127537		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Mihailova, S.  et al. 2005	16183136				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Bulgaria	CDC GDPinfo	3586	Hs.193717			Journal of neuroimmunology. 2005 Nov;168(2-Jan):138-43	Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients.		124092	22434	2	2005												
127539		allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Gentile, D. A.  et al. 2004	15120189				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2004 Apr;65(4):347-51	Association between TNF-alpha and TGF-beta genotypes in infants and parental history of allergic rhinitis and asthma.		124092	22436	2	2004	These results suggest a role for TNF-alpha and TGF-beta1 genotypes in the pathogenesis of allergic rhinitis and asthma, respectively. If confirmed by future studies, cytokine genotyping may be a useful tool for identifying at-risk infants who may benefit from the selective use of preventative and/or early intervention treatments for these disorders.	Cohort 124 infants 										
127533	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	1	1q31-q32	IL10	205007570	205012462		Migita, K.  et al. 2005	15763337				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	CDC GDPinfo	3586	Hs.193717			Journal of hepatology. 2005 Apr;42(4):505-10	Cytokine gene polymorphisms in Japanese patients with hepatitis B virus infection--association between TGF-beta1 polymorphisms and hepatocellular carcinoma.		124092	22430	2	2005	 Our findings suggest that the genetic polymorphism in codon 10 of the TGF-beta1 gene may play a role in HCC development in patients with chronic HBV infection.	Cohort 236 Japanese patients with hepatitis B virus 	hepatitis B									
127534		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	1	1q31-q32	IL10	205007570	205012462		Basturk, B.  et al. 2005	15784411				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cytokine. 2005 Apr;30(1):41-5	Cytokine gene polymorphisms as potential risk and protective factors in renal cell carcinoma.		124092	22431	2	2005	Nevertheless, these findings suggest that the TNF-alpha -308 G/G and TGF-beta codon 10-25 T/T-G/C genotypes may be potential risk factors for RCC, whereas TNF-alpha -308 G/A, IL-6 C/C and TGF-beta1 codon 10-25 C/C-G/G genotypes may be possible protective factors. The number of the cases has to be increased to investigate the independency of these polymorphisms involved in the oncogenesis of RCC.	Case:29 patient with renal cell carcinoma;Control:50 healthy controls										
127535		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Bendicho, M. T.  et al. 2005	15841043				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Pancreas. 2005 May;30(4):333-6	Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis.		124092	22432	2	2005	 The genotypes corresponding to the high TGF-beta1 producer phenotypes can be associated with the fibrogenesis shown with CP.	Case:28 chronic pancreatitis patients evaluated at a university gastroenterology outpatient service;Control:94 blood donors										
127530		kidney transplant	IMMUNE	IMM	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Alakulppi, N. S.  et al. 2004	15599305				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2004 Nov;78(10):1422-8	Cytokine gene polymorphisms and risks of acute rejection and delayed graft function after kidney transplantation.		124092	22427	2	2004	 Our results confirm that cytokine gene polymorphisms influence the outcome of kidney transplantation. Our data especially identify the TNF-alpha -308AA-genotype as a factor predisposing for AR episodes.	Cohort 291 conors and adult cadaver kidney recipients transplanted at a single transplantation center 1999 - 2002 										
127531		renal allograft outcome	UNKNOWN	UNK		1	1q31-q32	IL10	205007570	205012462		Delaney, N. L.  et al. 2004	15603866				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American		CDC GDPinfo	3586	Hs.193717			Human immunology. 2004 Dec;65(12):1413-9	TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops:Part IV.		124092	22428	2	2004	Because levels of expression can affect inflammation and immune regulation, differences in cytokine allele frequencies between racial or ethnic groups may contribute to different incidences of autoimmunity and allograft rejection.	Cohort 691/296 unrelated adult African Americans (n=691) and Cuban Americans (n=296) 										
127532	N	liver transplant	OTHER	OTH		1	1q31-q32	IL10	205007570	205012462		Karasu, Z.  et al. 2004	15621151				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2004 Nov;36(9):2791-5	Cytokine gene polymorphism and early graft rejection in liver transplant recipients.		124092	22429	2	2004	In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.	Cohort 43 Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group. 										
127527		kidney transplant	IMMUNE	IMM	Hypertension|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease|Hyperuricemia	1	1q31-q32	IL10	205007570	205012462		Babel, N.  et al. 2004	15200452				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Kidney international. 2004 Jul;66(1):428-32	Nonimmunologic complications and gene polymorphisms of immunoregulatory cytokines in long-term renal transplants		124092	22424	2	2004	 We established an association of particular cytokine genotypes with nonimmunologic post-transplant complications. This supports an idea that assessment of cytokine SNPs may allow more accurate prediction of nonimmunologic complications and appropriate adjustment of pre-emptive treatments in long-term transplant patients.	Cohort 278 long-term renal transplant subjects 										
127528		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Recurrence	1	1q31-q32	IL10	205007570	205012462		Ben-Ari, Z.  et al. 2004	15207246				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cytokine. 2004 Jul;27(1):14-Jul	Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation		124092	22425	2	2004	These findings might help to design preemptive prevention therapy in selected patients at risk.	Cohort 36 chronic hepatitis C patients 										
127529		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	1	1q31-q32	IL10	205007570	205012462		Prigoshin, N.  et al. 2004	15214940				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		CDC GDPinfo	3586	Hs.193717			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):36-41	Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause.		124092	22426	2	2004	 This finding would support the concept of involvement of IFN-gamma +874 A --> T in the pathogenesis of RPL of unknown cause in the Caucasian Argentine population.	Case:41 women with reccurent pregnancy loss;Control:54 control women who had at least two children and without known pregnancy losses										
127523	N	hepatitis C	INFECTION	INF	Hepatitis C	1	1q31-q32	IL10	205007570	205012462		Barrett, S.  et al. 2003	12938195				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection		124092	22420	2	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive)) 										
127524		parvovirus	INFECTION	INF	Parvoviridae Infections	1	1q31-q32	IL10	205007570	205012462		Kerr, J. R.  et al. 2003	14514772				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		124092	22421	2	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127525	Y	kidney transplant complications	IMMUNE	IMM	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Gu, X. W.  et al. 2003	14625191				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1211-3	Cytokine gene polymorphism in sensitized kidney transplant recipients and its association with acute rejection episodes		124092	22422	2	2003	 TNF-alpha and IL-10 gene polymorphism may significantly influence the incidence of acute rejection episodes in sensitized kidney transplants, for whom determination of TNF-alpha and IL-10 genotype might help design feasible immunosuppressive protocols.	Cohort 97 sensitized kidney transplant recipients 										
127520		bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans	1	1q31-q32	IL10	205007570	205012462		Lu, K. C.  et al. 2002	12451269				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2002 Nov;74(9):1297-302	Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation.		124092	22417	2	2002	 The presence of high-expression polymorphisms at position -174 of the IL-6 gene and position +874 of the IFN-gamma gene significantly increases the risk for BOS development after lung transplantation.	Cohort 93 lung allograft recipients 										
127521		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	1	1q31-q32	IL10	205007570	205012462		Gentile, D. A.  et al. 2003	12507818				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2003 Jan;64(1):93-8	Cytokine gene polymorphisms moderate responses to respiratory syncytial virus in adults.		124092	22418	2	2003	These results suggest that certain cytokine gene polymorphisms moderate immune responses and illness severity in adults experimentally exposed to RSV.	Cohort 29 adults experimentally inoculated with respiratory syncytial virus 										
127522		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Otitis Media	1	1q31-q32	IL10	205007570	205012462		Gentile, D. A.  et al. 2003	12590978				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2003 Mar;64(3):338-44	Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.		124092	22419	2	2003	These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.	Cohort 77 infants hospitalized with confirmed RSV infection 										
127517	Y	allograft outcome	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Awad, M. R.  et al. 2001	11404167				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of heart and lung transplantation. 2001 Jun;20(6):625-30	The effect of cytokine gene polymorphisms on pediatric heart allograft outcome.		124092	22414	2	2001	 Genetic polymorphisms that have been associated with low TNF-alpha and high IL-10 production are associated with a lower number of acute rejection episodes after pediatric heart transplantation.	Control:29 heart donors;Case:93 pediatric heart transplant recipients										
127518		cell-surface B7 expression; cytokine production	UNKNOWN	UNK		1	1q31-q32	IL10	205007570	205012462		Hutchings, A.  et al. 2002	11906646				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American		CDC GDPinfo	3586	Hs.193717			Pediatric transplantation. 2002 Feb;6(1):69-77	Association of cytokine single nucleotide polymorphisms with B7 costimulatory molecules in kidney allograft recipients.		124092	22415	2	2002	These data raise the possibility that specific genotypes are associated with local cytokine regulation of cell-surface costimulatory molecule expression. African-American patients may have a genetically determined, quantitatively different immune response than Caucasian patients, contributing to adverse transplant outcomes.	Cohort African-American and Caucasian renal transplant recipients 										
127519		multiple sclerosis	IMMUNE	IMM	Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Gourley, I. S.  et al. 2002	12232842				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Kenya	CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2002 Oct;186(7):1007-12	Profound bias in interferon-gamma and interleukin-6 allele frequencies in western Kenya, where severe malarial anemia is common in children.		124092	22416	2	2002	The cohort displayed a marked bias toward genotypes associated with low expression of IFN-gamma and IL-6, cytokines that, at high levels, have been implicated in malarial anemia and poor malaria outcomes. By contrast, the frequency of the TNF-alpha -238A allele, which has been associated with severe malarial anemia, was found to be similar to the frequency previously reported in comparison populations in Africa and elsewhere. IFN-gamma and IL-6 genotypes may play roles in the development of severe malaria and could contribute to the relative frequency of severe malarial anemia or cerebral malaria in exposed populations.	Cohort young men Western Kenya 										
127513	N	graft versus host disease	IMMUNE	IMM	Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Laguila Visentainer, J. E.  et al. 2005	16243534			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Mixed Brazilian population	Brazil	CDC GDPinfo	3586	Hs.193717			Cytokine. 2005 Nov;32(4-Mar):171-7	Relationship between cytokine gene polymorphisms and graft-versus-host disease after allogeneic stem cell transplantation in a Brazilian population.		124092	22410	2	2005	There are not association between IL10 and GVHD.											
127514		kidney graft survival	RENAL	REN		1	1q31-q32	IL10	205007570	205012462		Neumann, J.  et al. 2001	11266927				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):501	Cytokine polymorphism and kidney graft survival at a single center.		124092	22411	2	2001	Our findings suggest that more patients should be studied and, if our results are confirmed, we should be able to tailor immunosuppression according to each patient's risk.	Cohort 35 kidney graft receptors 1992-1999 										
127516	Y	allograft outcome	IMMUNE	IMM	Hepatitis C|Genetic Predisposition to Disease|Recurrence	1	1q31-q32	IL10	205007570	205012462		Tambur, A. R.  et al. 2001	11391238				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 May;71(10):1475-80	Role of cytokine gene polymorphism in hepatitis C recurrence and allograft rejection among liver transplant recipients.		124092	22413	2	2001	 While no significant correlation was detected between particular cytokine profile and early rejection episodes, our data strongly suggest an association between cytokine gene polymorphism of TGF-beta, IL-10, and INF-gamma and recurrence of hepatitis C in LTx recipients.	Control:49 healthy Caucasian individuals;Case:68 liver transplant recipients										
127510		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	1	1q31-q32	IL10	205007570	205012462		Socie, G.  et al. 2001	11544434				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 Aug;72(4):699-706	Both genetic and clinical factors predict the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation		124092	22407	2	2001	 In addition to previously described clinical risk factors, genetic risk factors are independently associated with the risk of developing graft-versus-host disease and may, thus, be considered for the selection of the donor.	Cohort 100 consecutive patients who underwent allogeneic stem cell transplantation from an HLA-identical sibling donor 										
127511		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Gottenberg, J. E.  et al. 2004	14872501				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Arthritis and rheumatism. 2004 Feb;50(2):570-80	Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome		124092	22408	2	2004	 TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGFbeta1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.	Case:129 French Sjogren's syndrome patients;Control:96 unrelated healthy subjects										
127512		heart transplant complications	OTHER	OTH	Infection	1	1q31-q32	IL10	205007570	205012462		Gourley, I. S.  et al. 2004	15041164				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2004 Mar;65(3):248-54	The effect of recipient cytokine gene polymorphism on cardiac transplantation outcome		124092	22409	2	2004	Patients with the TGF-beta genotype 10 T/T 25 G/G or 10 T/C 25 G/G had a longer time to first rejection (median time to first rejection episode 321 days) than those with the TGF-beta genotype 10C/C 25 G/C or 10 C/C 25 C/C (median time to first rejection 88 days). There was a trend toward a higher frequency of the tumor necrosis factor-alpha genotype -308 G/A or A/A in patients without infection (19/59, 32%) as compared with patients with infection (5/31, 16%). In both cases, these differences failed to reach significance when adjusted for multiple comparisons. No other significant association was found with clinical outcomes and polymorphisms in the five cytokine genes studied in this population.	Cohort 95 heart transplant paitnets 										
127507	N	melanoma	CANCER	CAN	Melanoma	1	1q31-q32	IL10	205007570	205012462		Martinez-Escribano, J. A.  et al. 2002	12394188				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Melanoma research. 2002 Oct;12(5):465-9	Interleukin-10, interleukin-6 and interferon-gamma gene polymorphisms in melanoma patients		124092	22404	2	2002	These data indicate that investigation of polymorphisms in the regulatory regions of IL10, IL6 and INFgamma genes does not seem to be useful for predicting the risk of development of primary cutaneous melanoma. However, IL10 low expression genotypes may be associated with a poorer outcome in melanoma patients.	Case:42 melanoma patients;Control:48 healthy controls										
127508		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	1	1q31-q32	IL10	205007570	205012462		Ben-Ari, Z.  et al. 2003	12526950				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The American journal of gastroenterology. 2003 Jan;98(1):144-50	Cytokine gene polymorphisms in patients infected with hepatitis B virus.		124092	22405	2	2003	 These findings suggest an association between the genetic ability to produce low levels of IFN-gamma and the susceptibility to develop chronic HBV infection.	Control:10/48 healthy individuals who recovered from HBV infection (n=10) and healthy controls (n=48);Case:77 patients with chronic HBV infection (23 low-level HBV replicative carriers, 23 compensated high-level HBV replicative carriers, 21 decompensated liver transplant candidates, and 10 patients with documented hepatocellular carcinoma)										
127509		longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462		Pes, G. M.  et al. 2004	15462469				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Aging clinical and experimental research. 2004 Jun;16(3):244-8	Association between longevity and cytokine gene polymorphisms. A study in Sardinian centenarians.		124092	22406	2	2004	 These data indicate that gene polymorphisms of cytokines playing a major regulatory role in the inflammatory response do not affect life expectancy in the Sardinian population. Thus, cytokine/longevity associations have a population-specific component, being affected by the population-specific gene pool as well as by gene-environment interactions, behaving as survival rather than longevity genes.	Case:112:centenarians:Sardinia;Control:137 sixty-year-old controls from the same geographic:region										
127504		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	1	1q31-q32	IL10	205007570	205012462		Ligeiro, D.  et al. 2004	15194285				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		124092	22401	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
127505		renal allograft outcome	UNKNOWN	UNK	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Hahn, A. B.  et al. 2001	11544427				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 Aug;72(4):660-5	TNF-alpha, IL-6, IFN-gamma, and IL-10 gene expression polymorphisms and the IL-4 receptor alpha-chain variant Q576R: effects on renalallograft outcome		124092	22402	2	2001	 These data would suggest that the production of high levels of the cytokine TNF-alpha is especially detrimental to graft survival when the recipient's T-helper lymphocytes are being activated by mismatched donor HLA-class II antigens. Typing all potential kidney recipients for TNF-alpha, and providing well-matched organs for high producers of this cytokines, may be expected to increase rejection-free graft survival in these patients.	Cohort 120 transplant patients 										
127506		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Cantor, M. J.  et al. 2005	15842590				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The American journal of gastroenterology. 2005 May;100(5):1134-42	The role of cytokine gene polymorphisms in determining disease susceptibility and phenotype in inflammatory bowel disease.		124092	22403	2	2005	 The cytokine gene polymorphisms studied here do not appear to influence IBD susceptibility. There does, however, appear to be an influence on disease phenotype, particularly on CD site.	Case:193 IBD patients (Crohn's disease (n=138) and ulcerative colitis (n=55));Control:92:controls										
127501		psoriasis	IMMUNE	IMM	Psoriasis	1	1q31-q32	IL10	205007570	205012462		Craven, N. M.  et al. 2001	11298547				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The British journal of dermatology. 2001 Apr;144(4):849-53	Cytokine gene polymorphisms in psoriasis.		124092	22398	2	2001	 Psoriasis is not determined by a genotype consistent with high production of Th1 cytokines or low production of Th2 cytokines. Thus, the Th1 cytokine profile found in psoriatic plaques is most likely a consequence of local factors.	Control data on file;Case:84 patients with psoriasis										
127502		hepatitis B	INFECTION	INF	Pregnancy Complications, Infectious|Hepatitis B|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Zhu, Q. R.  et al. 2005	15941525				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):236-9	[Relationship between cytokine gene polymorphism and susceptibility to hepatitis B virus intrauterine infection]		124092	22399	2	2005	 This study suggested the possibility that TNF-alpha-238 A allele and IFN-gamma + 874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4-590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10-1082 G allele seemed to be associated with preventive efficacy to HBV intrauterine infection.											
127503		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Zhu, Q. R.  et al. 2005	16232344				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Chinese medical journal. 2005 Oct;118(19):1604-9	Relationship between cytokines gene polymorphism and susceptibility to hepatitis B virus intrauterine infection.		124092	22400	2	2005	 This study suggested the possibility that the TNF-alpha -238 A allele and IFN-gamma +874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4 -590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10 -1082 G allele was associated with preventive efficacy to HBV intrauterine infection.											
127497		kidney transplant complications	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		McDaniel, D. O.  et al. 2003	12727482				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American		CDC GDPinfo	3586	Hs.193717			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		124092	22394	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
127498	N	renal transplantation, protein secretion in	UNKNOWN	UNK	Acute Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Cartwright, N. H.  et al. 2001	11316066				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplant immunology. 2001 Feb;8(4):237-44	A study of cytokine gene polymorphisms and protein secretion in renal transplantation.		124092	22395	2	2001	In addition, no correlation was demonstrated between cytokine gene polymorphisms and renal allograft rejection.	Control:30 normal controls;Case:49 renal transplant patient-donor pairs										
127499		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Kamali-Sarvestani, E.  et al. 2005	15811521				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Iranian	Iran	CDC GDPinfo	3586	Hs.193717			Journal of reproductive immunology. 2005 Apr;65(2):171-8	Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women.		124092	22396	2	2005	It may be concluded that IL-10 polymorphism at position -592 could be a genetic factor for RPL.	Case:139 women with recurrent pregnancy loss:Iran;Control:143 contol women										
127494		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	1	1q31-q32	IL10	205007570	205012462		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		124092	22391	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
127495		hepatitis C; longevity	INFECTION	INF		1	1q31-q32	IL10	205007570	205012462		Pyo, C. W.  et al. 2003	14522096				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Korean		CDC GDPinfo	3586	Hs.193717			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		124092	22392	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
127496		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Gastritis, Atrophic|Metaplasia	1	1q31-q32	IL10	205007570	205012462		Rad, R.  et al. 2004	15247172				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Gut. 2004 Aug;53(8):1082-9	Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection.		124092	22393	2	2004	 Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and the long term development of precancerous lesions in H pylori infection. Host polymorphisms are associated with certain bacterial strain types, suggesting host specific colonisation or adaptation. These findings contribute to the understanding of the complex interplay between host and bacterial factors involved in the development of gastric pathology.	Cohort 207 H pylori infected patients with chronic gastritis 										
127491		longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462		Ross, O. A.  et al. 2003	12633940				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Irish		CDC GDPinfo	3586	Hs.193717			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		124092	22388	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
127492		atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	1	1q31-q32	IL10	205007570	205012462		Hoffjan, S.  et al. 2004	15007355				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of allergy and clinical immunology. 2004 Mar;113(3):511-8	Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.		124092	22389	2	2004	 These data suggest that variations in genes involved in immune regulation are associated with biologic and clinical phenotypes in the first year of life that might increase the risk for the subsequent development of childhood asthma.	Cohort 207 European American children participating in the Childhood Origin of Asthma study 										
127493		hepatitis C; Schistosoma mansoni infection	INFECTION	INF	Hepatitis C, Chronic|Schistosomiasis mansoni	1	1q31-q32	IL10	205007570	205012462		El-Kady, I. M.  et al. 2005	15644127				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Scandinavian journal of immunology. 2005 Jan;61(1):87-91	Interleukin (IL)-4, IL-10, IL-18 and IFN-gamma cytokines pattern in patients with combined hepatitis C virus and Schistosoma mansoni infections		124092	22390	2	2005	In conclusion, schistosomiasis may downregulate the stimulatory effect of HCV on Th1 cytokines and this may lead to the chronicity of HCV infection in coinfected patients.	Case:10/15/10 patients infected with chronic HCV (n=20), patients infected with schisotosomiasis alone (n=15), and patients with chronic HCV and schistosomiasis:(n=10);Control:15 healthy control individuals matched for age and sex										
127488		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Cinek, O.  et al. 2004	15170937				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Czech	Czech Republic	CDC GDPinfo	3586	Hs.193717			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		124092	22385	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
127489		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		1	1q31-q32	IL10	205007570	205012462		Trejaut, J. A.  et al. 2004	15361128				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		124092	22386	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
127490		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		1	1q31-q32	IL10	205007570	205012462		De Capei, M. U.  et al. 2003	12558814				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		124092	22387	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
127485		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Tso, H. W.  et al. 2005	15815688				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese	Hong Kong	CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2005 Jun;6(4):358-63	Association of interferon gamma and interleukin 10 genes with tuberculosis in Hong Kong Chinese.		124092	22382	2	2005	This study suggests the possible role of interferon gamma in TB susceptibility.	Case:385 HIV-negative tuberculosis patients Hong Kong;Control:451:controls										
127486	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	1	1q31-q32	IL10	205007570	205012462		Vasilescu, A.  et al. 2003	12944981				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		124092	22383	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
127487		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular	1	1q31-q32	IL10	205007570	205012462		Nieters, A.  et al. 2005	15643599				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cancer. 2005 Feb;103(4):740-8	Effect of cytokine genotypes on the hepatitis B virus-hepatocellular carcinoma association.		124092	22384	2	2005	 Diminished cell-mediated immune response, which is controlled genetically, appeared to be an important risk determinant of HBV-related hepatocellular carcinogenesis.	Control:250 hospital controls;Case:250 patients with incident hepatocellular carcinoma:Nanning, Guangxi, China										
127480		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Bravo, M. J.  et al. 2003	14675398				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European journal of immunogenetics. 2003 Dec;30(6):433-5	Polymorphisms of the interferon gamma and interleukin 10 genes in human brucellosis.		124092	22377	2	2003	Persons who are homozygous for the IFNG +874A allele may have a higher risk of contracting brucellosis.	Control:101:controls;Case:83 patients with brucellosis										
127482		liver disease; hepatitis C, chronic	OTHER	OTH	Hepatitis C, Chronic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Abbott, W. G.  et al. 2004	15078471				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Liver international. 2004 Apr;24(2):90-7	Single nucleotide polymorphisms in the interferon-gamma and interleukin-10 genes do not influence chronic hepatitis C severity or T-cell reactivity to hepatitis C virus		124092	22379	2	2004	 Future studies investigating the entire cytokine gene sequences will provide better information regarding genetic variations responsible for inter-individual differences in the severity of CH-C.	Cohort 116 consecutive patients with chronic hepatitis C 										
127483		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Autoimmune Diseases|Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Wu, J. M.  et al. 2005	15931634				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Biology of blood and marrow transplantation. 2005 Jun;11(6):455-64	The effects of interleukin 10 and interferon gamma cytokine gene polymorphisms on survival after autologous bone marrow transplantation for patients with breast cancer.		124092	22380	2	2005	Inheritance of specific alleles that modify IL-10 and IFN-gamma production may have unexpected effects on the efficacy of immune-based strategies after autologous BMT. Additional studies are necessary to further define the influence of IL-10 and IFN-gamma on the immune response after BMT.	Cohort 87 women enrolled in 3 autologous BMT (plus induction of autologous GVHD) clinical trials 										
127477	Y	renal transplant	RENAL	REN	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Asderakis, A.  et al. 2001	11292301				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 Mar;71(5):674-7	Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokineeffect on transplantation.		124092	22374	2	2001	 In this study we have shown that high producer genotype for IFN-gamma may have an influence on acute rejection of kidney transplants, particularly in patients on cyclosporine monotherapy. It is also associated with worse long-term graft function. On the contrary high IL-10 production may have a long-term protective effect.	Cohort 88 of 115 consecutive cadaveric renal transplants 	antithymocyte globulin therapy									
127478	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Tegoshi, H.  et al. 2002	11821159				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	CDC GDPinfo	3586	Hs.193717			Human immunology. 2002 Feb;63(2):121-8	Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes.		124092	22375	2	2002	These results suggest that the IFNG CA-repeat and the IL-10-592A/C polymorphisms are not strong determinants of susceptibility to the development of type I diabetes in Japanese individuals. However, both the IFNG CA-repeat and the IL-10-592A/C polymorphisms are associated with clinical heterogeneity in type I diabetes.	Control:160 healthy controls subjects;Case:207 Japanese type I diabetic patients										
127479		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Lopez-Maderuelo, D.  et al. 2003	12531774				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			American journal of respiratory and critical care medicine. 2003 Apr;167(7):970-5	Interferon-gamma and interleukin-10 gene polymorphisms in pulmonary tuberculosis.		124092	22376	2	2003	Thus, a genetic defect in the production of interferon-gamma in individuals who were homozygous for the (+874) A allele could contribute to their increased risk of developing tuberculosis.	Case:113 Spanish patients with culture-proven pulmonary:tuberculosis;Control:207/100 healthy close contacts (n=207, 125 tuberculin reactive and 82 tuberculin-negative) and healthy tuberculin-negative controls (n=100 )										
127474	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Guseva, I. A.  et al. 2003	12847896				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Kazakhstan	CDC GDPinfo	3586	Hs.193717			Ter Arkh. 2003 ;75(5):36-41	[Polymorphism of Fc gamma RIIIA-158F/V gene and promoter region of IL-10 gene in systemic lupus erythematosus in Kazakhs]		124092	22371	2	2003	 Polymorphism of genes Fc gamma RIIIA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes Fc gamma RIIIA and IL-10 on the risk to develop SLE.	Case:49 Kazakh nationality patients with systemic lupus:erythematosus;Control:81 healthy subjects										
127475	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Martinez, A.  et al. 2003	12618859				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Spanish	Spain	CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2003 Mar;4(2):117-21	Genetic polymorphisms in Spanish rheumatoid arthritis patients: an association and linkagestudy.		124092	22372	2	2003	Our data suggest that most of the loci studied play no major role in the susceptibility to RA, the IL-10 gene being the sole exception.	Case rheumatoid arthritis patients;Control:controls										
127476		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Nguyen, D. P.  et al. 2004	15292002				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		124092	22373	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
127471		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A|Autoimmune Diseases|Inversion, Chromosome	1	1q31-q32	IL10	205007570	205012462			16380445				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Blood. 2005	Polymorphisms in the IL-10 but not in the IL-1{beta} and IL-4 genes are associated with inhibitor development in patients with hemophilia A		124092	22368	2	2005												
127472		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Dijstelbloem, H. M.  et al. 2002	11953994				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Arthritis and rheumatism. 2002 Apr;46(4):1125-6	The R-H polymorphism of FCgamma receptor IIa as a risk factor for systemic lupus erythematosus is independent of single-nucleotide polymorphisms in the interleukin-10 gene promoter		124092	22369	2	2002	These findings support the notion that other regulatory elements in the IL-10 gene influence IL-10 production and possibly have relevance in SLE. Whether there are syngergistic effects between such elements and Fc gamma R polymorphisms remains to be determined.	Control:163:controls;Case:180 Caucasian systemic lupus erythematosus patients										
127473		allograft rejection, heart	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Vamvakopoulos, J. E.  et al. 2002	12095061				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		124092	22370	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
127467		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Nath, S. K.  et al. 2005	16133175				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human genetics. 2005 Nov;118(2):225-34	Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.		124092	22364	2	2005												
127468		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	1	1q31-q32	IL10	205007570	205012462		Lan, Q.  et al. 2005	16230423				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		124092	22365	2	2005												
127469		liver disease, alcoholic	OTHER	OTH	Fatty Liver|Liver Cirrhosis, Alcoholic|Alcoholism	1	1q31-q32	IL10	205007570	205012462		Vidali, M.  et al. 2003	12540792				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Hepatology (Baltimore, Md). 2003 Feb;37(2):410-9	Genetic and epigenetic factors in autoimmune reactions toward cytochrome P4502E1 in alcoholic liver disease		124092	22366	2	2003	In conclusion, antigenic stimulation by HER-modified CYP2E1 combined with an impaired control of T-cell proliferation by CTLA-4 mutation promotes the development of anti-CYP2E1 autoantibodies that might contribute to alcohol-induced liver injury.	Control:37/59 heavy drinkers without liver disease or steatosis only (n=37), and healthy subjects (n=59);Case:90 patients with alcoholic fibrosis/cirrhosis										
127463		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	1	1q31-q32	IL10	205007570	205012462		Nishimura, M.  et al. 2003	12651071				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		124092	22360	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
127464		pancreatitis; sepsis	IMMUNE	IMM	Shock, Septic|Pancreatitis|Acute Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Zhang, D. L.  et al. 2005	16038043				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			World journal of gastroenterology. 2005 Jul;11(28):4409-13	Association of polymorphisms of IL and CD14 genes with acute severe pancreatitis and septic shock.		124092	22361	2	2005	 IL-10-1082G plays an important role in the susceptibility of SAP patients to septic shock. Genetic factors are not important in determination of disease severity or susceptibility to AP.											
127465		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Martins, A.  et al. 2005	16148556				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European journal of gastroenterology & hepatology. 2005 Oct;17(10):1099-104	Are genetic polymorphisms of tumour necrosis factor alpha, interleukin-10, CD14 endotoxin receptor or manganese superoxide dismutase associated with alcoholic liver disease?		124092	22362	2	2005	 No association was found between the previously implicated polymorphisms of TNF-alpha, IL-10, CD14 and MnSOD, either individually or simultaneously, and the presence of established ALD.											
127459			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Padyukov, L.  et al. 2001	11528523				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese/Swedish Caucasians		CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2001 Aug;2(5):280-3	Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians.		124092	19919	2	2001	The noted differences in the frequency of functionally important alleles of cytokine genes may have consequences for the mode of appearance and outcome of certain diseases in individuals of different ethnicity.	Cohort Caucasians individuals western Sweden Cohort Chinese individuals Hong Kong 										
127460		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Wu, H.  et al. 2002	12133517				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua yi xue za zhi. 2002 Apr;82(7):467-70	[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus]		124092	22357	2	2002	 Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.	Case blood from 232 nuclear families;Control:106 ethnically matched normal controls										
127462		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	1	1q31-q32	IL10	205007570	205012462			16389181				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		124092	22359	2	2006												
127455		respiratory syncytial virus	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	1	1q31-q32	IL10	205007570	205012462		Hoebee, B.  et al. 2004	14722888			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of Promoter Variants of Interleukin-10, Interleukin-9, and Tumor Necrosis Factor-alpha Genes on Respiratory Syncytial Virus Bronchiolitis		124092	17791	2	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus		IL-4	Ralpha Q551R	IL-10	C-592A			Y		syncytial virus bronchiolitis
127456		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Thomson, W.  et al. 2002	12223104				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		124092	19126	2	2002	Review article											
127458		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease|Inflammation	1	1q31-q32	IL10	205007570	205012462		Xu, J.  et al. 2005	16284379				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2563-8	The interaction of four genes in the inflammation pathway significantly predicts prostate cancer risk.		124092	19862	2	2005												
127452		longevity	AGING	AGE	Immune System Diseases	1	1q31-q32	IL10	205007570	205012462		Caruso, C.  et al. 2004	15247007				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Annals of the New York Academy of Sciences. 2004 Jun;1019:141-6	Looking for immunological risk genotypes.		124092	17736	2	2004	Although in our study we were not able to show any correlation with CD4 values and no functional assessment of T cell was performed, these results suggest that cytokine genotypes may be involved in the subpopulation dynamics in old age.	Cohort old men 										
127453		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	1	1q31-q32	IL10	205007570	205012462		Marshall, S. E.  et al. 2001	11233912				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		124092	17766	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
127454		asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Bown, M. J.  et al. 2005	15787640				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			International journal of immunogenetics. 2005 Apr;32(2):83-90	A comparison of methods for determining genotypes at the tumour necrosis factor-alpha-308, interleukin (IL)-1beta+3953, IL-6 -174 and IL-10 -1082/-819/-592 polymorphic loci.		124092	17780	2	2005	IHG is a valid method for the determination of genotypes at the loci examined in this study and produces comparable results to those of more traditional methods of genotyping.	Cohort 90 patients consenting to participate in the study 										
127449		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Lin, M. T.  et al. 2005	16109775				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Blood. 2005 Dec;106(12):3995-4001	Genetic variation in the IL-10 pathway modulates severity of acute graft-versus-host disease following hematopoietic cell transplantation:synergism between IL-10 genotype of patient and IL-10 receptor {beta} genotype of donor.		124092	17692	2	2005				IL-10	/-592	donor IL10RB	/c238			Y		graft-versus-host disease
127450		kidney failure	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Cox, E. D.  et al. 2001	11544437				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2001 Aug;72(4):720-6	Cytokine polymorphic analyses indicate ethnic differences in the allelic distribution of interleukin-2 and interleukin-6.		124092	17732	2	2001	 Our work demonstrates a correlation between ethnicity and polymorphisms in several cytokine genes. In addition, we found that patients requiring renal transplantation differ from the general population with regard to certain cytokine gene polymorphisms. These findings may have relevance in making prognostic determinations or tailoring immunomodulatory regimens after renal transplantation.	Cohort 160 subjects including 102 whites and 43 African-Americans 										
127451	Y	kidney disease; vascular disease	RENAL	REN	Renal Artery Obstruction|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		George, S.  et al. 2004	15104679				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Tissue antigens. 2004 May;63(5):470-5	Renovascular disease is associated with low producer genotypes of the anti-inflammatory cytokine interleukin-10		124092	17735	2	2004	The increased frequency of the low producer IL-10 promoter, -1082 A-positive genotype in patients with renal artery stenosis, suggests that IL-10 may protect against the development of atherosclerotic renovascular disease.	Control:100 normal healthy individuals;Case:66 patients with atherosclerotic renal artery stenosis										
127446		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	1	1q31-q32	IL10	205007570	205012462		Freeman, B. D.  et al. 2002	12411588				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		124092	14284	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
127447	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Hamajima, N.  et al. 2003	12662377				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Helicobacter. 2003 Apr;8(2):105-10	High anti-Helicobacter pylori antibody seropositivity associated with the combination of IL-8-251TT and IL-10-819TT genotypes.		124092	17685	2	2003	 The observed association suggests that individuals with interleukin-8-251TT and interleukin-10-819TT, a combination presumably causing mild inflammation, have a higher probability of the continuing Helicobacter pylori infection, especially among current smokers.	Cohort 454 health check-up examinees (126 males and 328 females) without a history of cancer, aged 35-85 years Nagoya, Japan 	smoking (tobacco)	interleukin-8	251TT	interleukin-10	819TT			Y	Helicobacter pylori	H. pylori infection
127448	N	asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462		Jourdan-Le Saux, C.  et al. 2003	14682393			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cellular and molecular biology (Noisy-le-Grand, France). 2003 Nov;49(7):1109-15	A base substitution in the interleukin-10 (IL-10) promoter between Sp1 and ets-1 binding sites is not associated with variation of IL-10 levels.		124092	17686	2	2003	We conclude that  although the -627 A allele occurs frequently (50% of alleles) in this selected group, in vitro assays and serum IL-10 levels suggest that the -627C-->A substitution represents a silent or neutral variant in the IL-10 promoter.	Cohort 53 unrelated subjects from an admixed Caucasian, Asian and Pacific Islander group with personal or family histories of asthma 										
127442		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Pereira, N. F.  et al. 2004	15566952				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		124092	11895	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
127444		kidney transplant complications	IMMUNE	IMM	Cadaver	1	1q31-q32	IL10	205007570	205012462		Loucaidou, M.  et al. 2005	15919456				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2005 May;37(4):1760-1	Cytokine polymorphisms do not influence acute rejection in renal transplantation under tacrolimus-based immunosuppression.		124092	11909	2	2005	 Cytokine polymorphisms did not influence acute rejection in our study. We conclude that in the modern era of immunosuppression cytokine genotyping is not a significant predictor of acute rejection in renal transplantation.											
127445		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Trajkov, D.  et al. 2005	16100774				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		124092	11912	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
127439	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q31-q32	IL10	205007570	205012462		Zanardini, R.  et al. 2003	14563376				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Journal of psychiatric research. 2003 Nov-Dec;37(6):457-62	Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.		124092	11876	2	2003	Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.	Case:169 northern Italian schizophrenic patients northern Italy;Control:177 unrelated healthy volunteers		IL-1beta	511C	IL-1RA	allele 1 (86bp)(4)			Y		schizophrenia
127440		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Smith, K. C.  et al. 2004	15265021				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		124092	11891	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
127441	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	1	1q31-q32	IL10	205007570	205012462		Fan, L. Y.  et al. 2004	15562761				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Oct;26(5):505-9	[Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population]		124092	11894	2	2004	 The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC, and the polymorphisms of IL-1 +3953 and IL-10 promoter gene are not associated with PBC in a Chinese population.	Control:160 healthy controls;Case:77 patients with primary biliary cirrhosis										
127436	Y	HIV	INFECTION	INF		1	1q31-q32	IL10	205007570	205012462		Smolnikova, M. V.  et al. 2002	12687247			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Russian journal of immunology. 2002 Dec;7(4):349-56	Association of IL2, TNFA, IL4 and IL10 Promoter Gene Polymorphisms with the Rate of Progression of the HIV Infection.		124092	11805	2	2002	The association of T/G IL2, G/A TNFA, T/T IL4, A/A IL10 allelic variants of the immunomodulator genes with a fast rate of HIV infection has been established.	Case:127 HIV-infected patients;Control:52 healthy individuals										
127437		asthma; eczema; allergic disease	IMMUNE	IMM	Parasitic Diseases|Autoimmune Diseases	1	1q31-q32	IL10	205007570	205012462		Kurzawski, M.  et al. 2005	16164695			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Polish	Poland	CDC GDPinfo	3586	Hs.193717			International journal of immunogenetics. 2005 Oct;32(5):285-91	Frequencies of the common promoter polymorphisms in cytokine genes in a Polish population.		124092	11819	2	2005												
127438	Y	allograft dysfunction, renal	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Tian, Y.  et al. 2002	12133353				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2002 Apr;40(4):256-8	[Influence of cytokine gene polymorphism on renal transplantation]		124092	11857	2	2002	 This study demonstrated that TNF-alpha and IL-10 gene polymorphism has significant influence on the incidence of acute rejection in renal transplantation.	Case:115 consecutive renal transplant recipients;Control:24 normal people										
127432	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q31-q32	IL10	205007570	205012462		McCarron, S. L.  et al. 2002	12067976				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Cancer research. 2002 Jun;62(12):3369-72	Influence of cytokine gene polymorphisms on the development of prostate cancer.		124092	11764	2	2002	These results suggest that single nucleotide polymorphisms associated with differential production of IL-8, IL-10, and VEGF are risk factors for PC, possibly acting via their influence on angiogenesis.	Case:247 prostate cancer patients;Control:263:controls										
127433		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1q31-q32	IL10	205007570	205012462		Garza-Gonzalez, E.  et al. 2003	15127646				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Mexican	Mexico	CDC GDPinfo	3586	Hs.193717			Rev Gastroenterol Mex. 2003 Apr-Jun;68(2):107-12	[Role of polymorphism of certain cytokines in gastric cancer in Mexico. Preliminary results]		124092	11773	2	2003	 The results of this preliminary study confirm that the pro-inflammatory IL-1B genotypes, as well as male gender, are risk factors for development of gastric cancer in Mexican population.	Control:25 ethnically matched healthy controls (mean age =:39.9, F/M = 3.12);Case:33 unrleated Mexican patients with histologically confirmed gastric cancer (n = 25) or high-grade dysplasia (n = 8) (mean age 62.7, F/M = 0.37):Mexico										
127434	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1q31-q32	IL10	205007570	205012462		Lu, W.  et al. 2004	15579481				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Carcinogenesis. 2005 Mar;26(3):631-6	Genetic polymorphisms of interleukin (IL)-1B, IL-1RN, IL-8, IL-10 and tumor necrosis factor {alpha} and risk of gastric cancer in a Chinese population.		124092	11780	2	2004	These findings suggest that genetic polymorphisms in IL-8, IL-10 and TNFalpha may play important roles in developing gastric cancer in the Chinese population.	Case:250 incident cases with gastric cancer Northern China;Control:300:controls										
127428	N	aphthous stomatitis	UNKNOWN	UNK	Stomatitis, Aphthous|Genetic Predisposition to Disease|Recurrence	1	1q31-q32	IL10	205007570	205012462		Bazrafshani, M.  et al. 2003	14629328				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Oral diseases. 2003 Nov;9(6):287-91	Polymorphisms in the IL-10 and IL-12 gene cluster and risk of developing recurrent aphthous stomatitis		124092	11660	2	2003	 We were unable to demonstrate an association between the inheritance of specific IL-10 or IL-12 gene polymorphisms and RAS susceptibility.	Case:100 recurrent aphthous stomatitis patients;Control:91 ethnically matched controls										
127429		cytokine production	UNKNOWN	UNK		1	1q31-q32	IL10	205007570	205012462		Yilmaz, V.  et al. 2005	15863393				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Turkish		CDC GDPinfo	3586	Hs.193717			Cytokine. 2005 May;30(4):188-94	IL-12 and IL-10 polymorphisms and their effects on cytokine production.		124092	11661	2	2005	IL10 -2763 and -3575 SNPs did not show any effect on in vitro secretion levels, whereas the association of proximal promoter -1082 SNP with IL-10 production is confirmed. IL10 proximal and distal promoter SNP distribution with estimated haplotype variations has implicated considerable similarities with the Caucasian populations in Turkey.	Cohort 152 individuals Turkey 										
127431	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic	1	1q31-q32	IL10	205007570	205012462		Oleksyk, T. K.  et al. 2005	15815689				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American		CDC GDPinfo	3586	Hs.193717			Genes and immunity. 2005 Jun;6(4):347-57	Single nucleotide polymorphisms and haplotypes in the IL10 region associated with HCV clearance.		124092	11734	2	2005	Our results indicate that variants of the immunomodulatory IL10 and IL19/IL20 genes may be involved in natural clearance of HCV in the African-American population.	Case:108 European American HCV clearance cases;Control:183 chronically infected African American matched:controls;Control:245 chronically infected European American controls;Case:91 African American HCV clearance cases										
127424	Y	hepatitis A vaccination, humoral immune response	INFECTION	INF		1	1q31-q32	IL10	205007570	205012462		Hohler, T.  et al. 2005	15918171			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Hepatology (Baltimore, Md). 2005 Jul;42(1):72-6	A functional polymorphism in the IL-10 promoter influences the response after vaccination with HBsAg and hepatitis A		124092	11643	2	2005	In conclusion, genetic variability in the IL-10 promoter is an important modulator of the immune response against hepatitis viral antigens.	Cohort 202 twin pairs 										
127425	Y	small for gestational age	UNKNOWN	UNK	Premature Birth	1	1q31-q32	IL10	205007570	205012462		Engel, S. A.  et al. 2005	15951665				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		North Carolina	CDC GDPinfo	3586	Hs.193717			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):478-86	Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms.		124092	11648	2	2005	 Variants related to decreased anti-inflammatory cytokine production may lower risk of SGA. Furthermore, the same mechanism that protects against SGA might increase risk of spontaneous preterm birth.											
127426		arteriosclerosis; microinflammation	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Arteriosclerosis|Inflammation	1	1q31-q32	IL10	205007570	205012462			16313808	1082A/G		promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua yi xue za zhi. 2005 Aug;85(29):2076-80	[The research on the relationship between the polymorphism of 1082A/G, anti-inflammatory interleukin-10 gene promoter with its effect of preventing ESRD patients from microinflammation and arteriosclerosis.]		124092	11654	2	2005	 The IL-10A/A genotype is a predictable factor of microinflammatory state and high AS incidence rate in ESRD patients. We use IL-10G/G genotype to modulate the high production of serum IL-10, to decline inflammatory reaction and to keep away from microinflammation and AS in ESRD patients. We should work hard on improving the dialysis membrane to reduce the anti-inflammatory factors in uremia for chronic renal failure patients with high arteriosclerosis risk.											
127420		autoimmune hepatitis	IMMUNE	IMM	Hepatitis, Autoimmune	1	1q31-q32	IL10	205007570	205012462		Ma, X.  et al. 2004	15161508				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Zhonghua gan zang bing za zhi. 2004 May;12(5):296-8	[Cytokine gene polymorphisms in Chinese patients with type I autoimmune hepatitis]		124092	11634	2	2004	 Genotypes associated with guanine to adenine substitution at position -308 of TNF-alpha promoter gene (TNF-308A) may involve in the pathogenesis of type I AIH	Case:32 Chinese type I autoimmune hepatitis;Control:48 healthy controls										
127422	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q31-q32	IL10	205007570	205012462		Yu, L.  et al. 2004	15374585			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Schizophrenia research. 2004 Nov;71(1):179-83	An association between polymorphisms of the interleukin-10 gene promoter and schizophrenia in the Chinese population.		124092	11637	2	2004	These data suggest that the IL-10 gene may confer susceptibility to the development of schizophrenia in the Chinese population.	Control:334:controls;Case:341 Chinese schizophrenic patients										
127423		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	1	1q31-q32	IL10	205007570	205012462		Havranek, E.  et al. 2005	15711248			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of urology. 2005 Mar;173(3):709-12	An interleukin-10 promoter polymorphism may influence tumor development in renal cell carcinoma.		124092	11638	2	2005	 We found that there was a significantly larger proportion of patients with renal cell carcinoma with the AA homozygous genotype than in a normal population cohort. This result is in accordance with those in previous studies of prostate cancer and cutaneous malignant melanoma. In contrast to previous studies of other tumor types, no correlation could be established between IL-10-1082 polymorphism and serum IL-10.	Control:161:controls;Case:166 renal cell carcinoma patients										
127417		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Kim, T. H.  et al. 2003	14646574				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Korean		CDC GDPinfo	3586	Hs.193717			The Korean journal of gastroenterology. 2003 Nov;42(5):377-86	[Tumor necrosis factor-alpha and interleukin-10 gene polymorphisms in Korean patients with inflammatory bowel disease]		124092	11627	2	2003	 The TNF-alpha gene polymorphisms at positions -308 and -238 may have influences on the susceptibility to CD or the behavior of CD.	Control:200 healthy controls;Case:91/63 ulcerative colitis (n=91) and Crohn's disease:(n=63) patients										
127418	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Hu, R.  et al. 2003	14669219			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese	China	CDC GDPinfo	3586	Hs.193717			Zhonghua yi xue yi chuan xue za zhi. 2003 Dec;20(6):504-7	[Polymorphism of interleukin-10 gene promoter and its association with susceptibility to chronic obstructive pulmonary disease in Chinese Han people]		124092	11628	2	2003	 Polymorphism of IL-10 -819C/T SNP site is associated with susceptibility to COPD in Chinese Han people; at least five haplotypes of IL-10 gene promoter (ATA, ACC, GCC, ATC and ACA) exist in Chinese Han people.	Case:88 Chinese Han chronic obstructive pulmonary disease:smokers;Control:94 healthy smokers										
127419	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	1	1q31-q32	IL10	205007570	205012462		Yang, J.  et al. 2003	14744383			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Aug;41(8):598-602	[The correlation between Kawasaki disease and polymorphisms of Tumor necrosis factor alpha and interleukin-10 gene promoter]		124092	11630	2	2003	 The genotype of TNF-alpha-308A is one of the important factors that probably influence the therapeutic effect of KD. The haplotypes (-1082/-819/-592) of IL-10 gene promoter might be related to the pathogenesis of coronary artery complication of KD and -1082A/-819T/-592A haplotypes might be regarded as a genetic marker of risk factor for coronary artery lesion in KD.	Control:160 age-matched normal children of the Han nationality;Case:96 children with Kawasaki disease										
127414		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Disease Progression	1	1q31-q32	IL10	205007570	205012462		Murakozy, G.  et al. 2001	11436536				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Sarcoidosis, vasculitis, and diffuse lung diseases. 2001 Jun;18(2):165-9	Analysis of gene polymorphisms in interleukin-10 and transforming growth factor-beta 1 in sarcoidosis.		124092	11618	2	2001	Statistical comparisons of the allele and genotype frequencies between the clinical defined sarcoidosis groups and the healthy blood donors revealed no significant differences.	Case:51 sarcoidosis patients;Control:72 healthy blood donors										
127415	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Zhang, J.  et al. 2002	11953141			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Zhonghua yi xue za zhi. 2002 Jan;82(2):114-8	[Correlation between polymorphism of IL-4 and IL-10 gene promoter and childhood asthma and their impact upon cytokine expression]		124092	11620	2	2002	 (1) There is no significant correlation between the polymorphism sites in IL-4 and IL-10 gene promoters and the susceptibility to asthma among Chinese. (2) The polymorphism of IL-10 gene promoter may be an important candidate gene for severity of asthma. The allele -819T plays an important role in increase of the total serum IgE by reducing the upregulation of IL-10 gene expression.	Cohort 168 unrelated Chinese children with asthma 										
127416	N	leukemia, acute myeloid; myelodysplasia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Autoimmune Diseases|Acute Disease	1	1q31-q32	IL10	205007570	205012462		Gowans, D.  et al. 2002	12028020				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			British journal of haematology. 2002 Jun;117(3):541-5	Allele and haplotype frequency at human leucocyte antigen class I/II and immunomodulatory cytokine loci in patients with myelodysplasia and acute myeloid leukaemia: in search of an autoimmuneaetiology.		124092	11622	2	2002	We can find no genetic influence for these polymorphisms in HLA class I/II, TNF-alpha/LT-alpha and IL-10 loci on either predisposition or disease progression in MDS/AML.	Control Scottish blood donors, healthy General Practitioner-based subjects, and published haplotype values;Case:150 patients with myelodysplasia and acute myeloid:leukemia										
127411	N	spontaneous preterm birth	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	1	1q31-q32	IL10	205007570	205012462		Kalish RB 2004	15042002	-1082		5' promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717	multifetal gestations		American journal of obstetrics and gynecology. 2004 Mar;190(3):702-6	Interleukin-4 and -10 gene polymorphisms and spontaneous preterm birth in multifetal gestations.		124092	3861	1	2004	 Maternal and fetal carriage of the interleukin-4 T allele is associated with an increased risk of spontaneous preterm birth in multifetal gestations.	Case:73										
127412	N	systemic lupus erythematosus	IMMUNE	IMM	Kidney Diseases|Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Crawley E 1999	10513824				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		Y Wang	3586	Hs.193717			Arthritis and rheumatism. 1999 Sep;42(9):2017-8	Single nucleotide polymorphic haplotypes of the interleukin-10 5' flanking region are not associated with renal disease or serology in Caucasian patients with systemic lupus erythematosus.		124092	3862	1	1999												
127413		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Dijstelbloem HM 2002	11953994				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			Y Wang	3586	Hs.193717			Arthritis and rheumatism. 2002 Apr;46(4):1125-6	The R-H polymorphism of FCgamma receptor IIa as a risk factor for systemic lupus erythematosus is independent of single-nucleotide polymorphisms in the interleukin-10 gene promoter.		124092	3863	1	2002	These findings support the notion that other regulatory elements in the IL-10 gene influence IL-10 production and possibly have relevance in SLE. Whether there are syngergistic effects between such elements and Fc gamma R polymorphisms remains to be determined.	Control:163:controls;Case:180 Caucasian systemic lupus erythematosus patients										
127406		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q31-q32	IL10	205007570	205012462		Mok CC 1998	9627019				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese	China	Y Wang	3586	Hs.193717			Arthritis and rheumatism. 1998 Jun;41(6):1090-5	Interleukin-10 promoter polymorphisms in Southern Chinese patients with systemic lupus erythematosus.		124092	3856	1	1998	 IL-10 promoter polymorphisms are not strong determinants of susceptibility to the development of SLE, per se, in Southern Chinese individuals. However, IL-10 genotypes are strongly associated with certain clinical manifestations of SLE and may have a role in predicting disease prognosis.											
127407		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Nakashima H 1999	10556270				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	Y Wang	3586	Hs.193717			Rheumatology (Oxford, England). 1999 Nov;38(11):1142-4	Polymorphisms within the interleukin-10 receptor cDNA gene (IL10R) in Japanese patients with systemic lupus erythematosus.		124092	3857	1	1999	 The IL10R genotype does not determine susceptibility to SLE in Japanese people.											
127408		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Eskdale J 1997	9234486				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		Y Wang	3586	Hs.193717			Tissue antigens. 1997 Jun;49(6):635-9	Association between polymorphisms at the human IL-10 locus and systemic lupus erythematosus.		124092	3858	1	1997												
127402	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Tegoshi H 2004	11821159	-592A/C			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	Y Wang	3586	Hs.193717			Human immunology. 2002 Feb;63(2):121-8	Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes.		124092	3852	1	2004	These results suggest that the IFNG CA-repeat and the IL-10-592A/C polymorphisms are not strong determinants of susceptibility to the development of type I diabetes in Japanese individuals. However, both the IFNG CA-repeat and the IL-10-592A/C polymorphisms are associated with clinical heterogeneity in type I diabetes.	Control:160 healthy controls subjects;Case:207 Japanese type I diabetic patients										
127403	N	noncardia gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Zambon CF 2004	14753224	(?1082 G/A, ?819 C/T, ?592 C/A)			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Gastroenterology. 2004 Jan;126(1):382-4	Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms.		124092	3853	1	2004												
127405		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Mehrian R 1998	9550468				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			Y Wang	3586	Hs.193717			Arthritis and rheumatism. 1998 Apr;41(4):596-602	Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus.		124092	3855	1	1998	 The results suggest that individuals carrying specific genotypes of both bcl-2 and IL-10 are at significant risk of developing SLE.											
127399	Y	Pneumococcal septic shock	OTHER	OTH	Meningitis, Pneumococcal|Pneumonia, Pneumococcal|Community-Acquired Infections|Shock, Septic	1	1q31-q32	IL10	205007570	205012462		Schaaf BM 2003	12746253	-1082 gene promoter polymorphism		5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			American journal of respiratory and critical care medicine. 2003 Aug;168(4):476-80	Pneumococcal septic shock is associated with the interleukin-10-1082 gene promoter polymorphism.		124092	3849	1	2003												
127400		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	1	1q31-q32	IL10	205007570	205012462		Lin MT 2003	14657427			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The New England journal of medicine. 2003 Dec;349(23):2201-10	Relation of an interleukin-10 promoter polymorphism to graft-versus-host disease and survival after hematopoietic-cell transplantation.		124092	3850	1	2003	 Among recipients of hematopoietic cells from an HLA-identical sibling, the IL10 -592A allele is a marker of a favorable outcome after transplantation.											
127401		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Scassellati C 2004	14746878			5' promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian	Italy	KGB	3586	Hs.193717	3		Neuroscience letters. 2004 Feb;356(2):119-22	Promoter haplotypes of interleukin-10 gene and sporadic Alzheimer's disease.		124092	3851	1	2004												
127395	N	hepatitis C infection	INFECTION	INF	Hepatitis C	1	1q31-q32	IL10	205007570	205012462		Barrett S 2003	12938195				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection.		124092	3845	1	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive))										
127396		familial early onset psoriasis.	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Hensen P 2003	12932247			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The British journal of dermatology. 2003 Aug;149(2):381-5	Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis.		124092	3846	1	2003	 In conclusion, we failed to confirm the susceptible effect of the G13 allele, but provide the first data for a protective effect of allele 3 (IL10.G9) for familial psoriasis. Our results suggest that the IL10.G polymorphism is not a major locus, but acts as a minor locus.											
127397		interleukin-10 response after cardiopulmonary bypass.	OTHER	OTH	Postoperative Complications	1	1q31-q32	IL10	205007570	205012462		Galley HF 2003	12925485				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			British journal of anaesthesia. 2003 Sep;91(3):424-6	Genotype and interleukin-10 responses after cardiopulmonary bypass.		124092	3847	1	2003	 The G allele of the -1082 base pair single nucleotide polymorphism in the IL-10 gene is associated with lower IL-10 release after cardiopulmonary bypass. High levels of IL-10 secretion are associated with organ dysfunction 24 h after surgery.											
127390	N	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	1	1q31-q32	IL10	205007570	205012462	n	Kerr JR 2003	14514772	-592			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		124092	3840	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127391	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	n	Hirashiki A 2003	14563588	819T3C			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	KGB	3586	Hs.193717			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		124092	3841	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
127392	Y	Non-Hodgkin's B cell lymphoma	CANCER	CAN	Acquired Immunodeficiency Syndrome|Lymphoma, B-Cell|Lymphoma, AIDS-Related	1	1q31-q32	IL10	205007570	205012462		Breen EC 2003	14597210	-592 C/C		5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717	acquired immunodeficiency syndrome		Clinical immunology (Orlando, Fla). 2003 Nov;109(2):119-29	Non-Hodgkin's B cell lymphoma in persons with acquired immunodeficiency syndrome is associated with increased serum levels of IL10, or the IL10 promoter -592 C/C genotype.		124092	3842	1	2003												
127386	N	diabetes, type 1	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1	1	1q31-q32	IL10	205007570	205012462	n	Ide A et al. 2003	14679088				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			Y Wang	3586	Hs.193717			Annals of the New York Academy of Sciences. 2003 Nov;1005:344-7	Interleukin-10 gene promoter region polymorphisms in patients with type 1 diabetes and autoimmune thyroid disease.		124092	3836	1	2003												
127388	N	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	1	1q31-q32	IL10	205007570	205012462	n	Kerr JR 2003	14514772	-1082			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		124092	3838	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127389	N	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	1	1q31-q32	IL10	205007570	205012462	n	Kerr JR 2003	14514772	-819			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		124092	3839	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127382	Y	sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Inflammation	1	1q31-q32	IL10	205007570	205012462		Summers AM et al. 2000	11163082	IL-10-592*A allele			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Human immunology. 2000 Dec;61(12):1270-3	Association of IL-10 genotype with sudden infant death syndrome.		124092	3832	1	2000												
127384	Y	gene polymorphism coding for increased IL-10 production	CANCER	CAN	Uterine Cervical Neoplasms	1	1q31-q32	IL10	205007570	205012462		Stanczuk GA et al. 2001	11745479				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			International journal of cancer. Journal international du cancer. 2001 Dec;94(6):792-4	Cancer of the uterine cervix may be significantly associated with a gene polymorphism coding for increased IL-10 production.		124092	3834	1	2001												
127385	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	n	Hakonarson H 2001	11739132	C-599A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Icelandic	Iceland	KCB	3586	Hs.193717			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			124092	3835	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
127378	N	acute GVHD	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	1	1q31-q32	IL10	205007570	205012462	n	Kogler G et al. 2002	12438965				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Transplantation. 2002 Oct;74(8):1167-75	Recipient cytokine genotypes for TNF-alpha and IL-10 and the minor histocompatibility antigens HY and CD31 codon 125 are not associated with occurrence or severity of acute GVHD in unrelated cord blood transplantation: a retrospective analysis.		124092	3828	1	2002	 In contrast to HLA-identical sibling bone marrow transplantation, in mismatched unrelated CBT, neither the cytokine genotypes TNFd3/d3 alone or in combination with IL-10(-1064) alleles nor the minor histocompatibility antigens HY, HA-1, and CD31 exon 125 were associated with aGvHD grades II to IV. Further determination of the cytokine gene polymorphism genotypes in CBTs compared with bone marrow transplants may identify those polymorphisms that could be potential predictive markers for the occurrence of aGvHD.											
127379	N	Asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462	n	Unoki M 2000	10830912	A-627C			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	KCB	3586	Hs.193717			Human genetics. 2000 Apr;106(4):440-6			124092	3829	1	2000												
127381	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Chronic Disease	1	1q31-q32	IL10	205007570	205012462		Berglundh T et al. 2003	12631183			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian	Sweden	KGB	3586	Hs.193717			Journal of clinical periodontology. 2003 Mar;30(3)	Association of the -1087 IL 10 gene polymorphism with severe chronic periodontitis in Swedish Caucasians.	rs1800896	124092	3831	1	2003	 It is suggested that the -1087 IL10 polymorphism in Caucasian subjects of a north European origin is associated with severe chronic periodontitis.											
127373	Y	Epstein-Barr virus infection	OTHER	OTH	Epstein-Barr Virus Infections|Disease Susceptibility	1	1q31-q32	IL10	205007570	205012462		Helminen M et al. 1999	10395868				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The Journal of infectious diseases. 1999 Aug;180(2):496-9	Polymorphism of the interleukin-10 gene is associated with susceptibility to Epstein-Barr virus infection.		124092	3823	1	1999												
127374	Y	Wegener's granulomatosis	OTHER	OTH	Wegener Granulomatosis	1	1q31-q32	IL10	205007570	205012462		Zhou Y et al. 2002	11838849				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The Journal of rheumatology. 2002 Feb;29(2):317-20	Novel genetic association of Wegener's granulomatosis with the interleukin 10 gene.		124092	3824	1	2002	 Our results indicate that the IL-10 gene may influence the disease, perhaps by influencing the production of autoantibodies.											
127376	Y	Psoriasis	IMMUNE	IMM	Psoriasis	1	1q31-q32	IL10	205007570	205012462		Reich K 1999	10469306	``-1082			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		TJB	3586	Hs.193717			The Journal of investigative dermatology. 1999 Aug;113(2):214-20			124092	3826	1	1999		Case:151; Control:123										
127377	Y	GVHD	IMMUNE	IMM	Hematologic Neoplasms|Myelodysplastic Syndromes|Granulomatous Disease, Chronic|Graft vs Host Disease|Acute Disease|Recurrence	1	1q31-q32	IL10	205007570	205012462	0.001	Middleton PG 1998	9808588	IL-10 (-)1064			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Blood. 1998 Nov;92(10):3943-8			124092	3827	1	1998												
127369		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		D' Alfonso S et al. 2002	12486603			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Genes and immunity. 2002 Dec;3(8):454-63	Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region.		124092	3819	1	2002												
127370	N	anti-Ro autoantibodies	IMMUNE	IMM	Sjogren's Syndrome	1	1q31-q32	IL10	205007570	205012462	n	Limaye V et al. 2000	11128696			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The Journal of rheumatology. 2000 Dec;27(12):2945-6	Polymorphisms of the interleukin 10 gene promoter are not associated with anti-Ro autoantibodies in primary Sjogren's syndrome.		124092	3820	1	2000												
127372	N	suppression of induction of contact sensitivity	OTHER	OTH	Dermatitis, Contact	1	1q31-q32	IL10	205007570	205012462	n	Allen MH et al. 1998	9767235				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The British journal of dermatology. 1998 Aug;139(2):225-9	Ultraviolet B induced suppression of induction of contact sensitivity in human skin is not associated with tumour necrosis factor-alpha-308 or interleukin-10 genetic polymorphisms.		124092	3822	1	1998												
127365	Y	Epstein-Barr virus infection	OTHER	OTH	Epstein-Barr Virus Infections|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Helminen ME et al. 2001	11517440			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The Journal of infectious diseases. 2001 Sep;184(6):777-80	Susceptibility to primary Epstein-Barr virus infection is associated with interleukin-10 gene promoter polymorphism.		124092	3815	1	2001												
127366		gastric carcinoma	CANCER	CAN	Epstein-Barr Virus Infections|Adenocarcinoma|Stomach Neoplasms	1	1q31-q32	IL10	205007570	205012462		Wu MS et al. 2002	11756988			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		China|Taiwan	KGB	3586	Hs.193717			The Journal of infectious diseases. 2002 Jan;185(1):106-9	Tumor necrosis factor-alpha and interleukin-10 promoter polymorphisms in Epstein-Barr virus-associated gastric carcinoma.		124092	3816	1	2002												
127368	Y	acute and chronic kidney transplant outcome	RENAL	REN	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Asderakis A et al. 2001	11292301				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Transplantation. 2001 Mar;71(5):674-7	Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokine effect on transplantation.		124092	3818	1	2001	 In this study we have shown that high producer genotype for IFN-gamma may have an influence on acute rejection of kidney transplants, particularly in patients on cyclosporine monotherapy. It is also associated with worse long-term graft function. On the contrary high IL-10 production may have a long-term protective effect.	Cohort 88 of 115 consecutive cadaveric renal transplants	antithymocyte globulin therapy									
127361	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	1	1q31-q32	IL10	205007570	205012462	n	Chou HT et al. 2003	12578333				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese	China|Taiwan	KGB	3586	Hs.193717			The Journal of heart valve disease. 2003 Jan;12(1):38-44	Lack of association of genetic polymorphisms in the interleukin-1beta interleukin-1 receptor antagonist interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese.		124092	3811	1	2003	 These findings suggest that the IL-1beta, IL-1Ra, IL-4 or IL-10 gene polymorphisms are not suitable genetic markers of MVP in Taiwan Chinese.											
127362	Y	acute and chronic kidney transplant outcome	RENAL	REN	Acute Disease	1	1q31-q32	IL10	205007570	205012462		Asderakis A et al. 2001	11292301				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Transplantation. 2001 Mar;71(5):674-7	Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokine effect on transplantation.		124092	3812	1	2001	 In this study we have shown that high producer genotype for IFN-gamma may have an influence on acute rejection of kidney transplants, particularly in patients on cyclosporine monotherapy. It is also associated with worse long-term graft function. On the contrary high IL-10 production may have a long-term protective effect.	Cohort 88 of 115 consecutive cadaveric renal transplants	antithymocyte globulin therapy									
127363	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q31-q32	IL10	205007570	205012462		Chiavetto LB et al. 2002	11922883			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Biological psychiatry. 2002 Mar;51(6):480-4	Association between promoter polymorphic haplotypes of interleukin-10 gene and schizophrenia.		124092	3813	1	2002	 These data could partly explain the abnormal secretion of IL-10 occurring in schizophrenic patients in response to infections or different stressors and suggest a potential role of IL-10 as a candidate gene for susceptibility to schizophrenia.											
127358	Y	increased interleukin-10 (IL-10) plasma levels	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Kilpinen S et al. 2002	11956022				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			European cytokine network. 2002 Jan-Mar;13(1):66-71	The combination of the interleukin-1alpha (IL-1alpha-889) genotype and the interleukin-10 (IL-10 ATA) haplotype is associated with increased interleukin-10 (IL-10) plasma levels in healthy individuals.		124092	3808	1	2002												
127359		genetic polymorphisms	OTHER	OTH		1	1q31-q32	IL10	205007570	205012462		Suarez A et al. 2003	12640314				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Transplantation. 2003 Mar;75(5):711-7	Interindividual variations in constitutive interleukin-10 messenger RNA and protein levels and their association with genetic polymorphisms.		124092	3809	1	2003	 Constitutive levels of IL-10 (mRNA and serum protein) displayed remarkable interindividual variations, which are genetically controlled by polymorphic variants at the cytokine gene promoter.											
127360	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	1	1q31-q32	IL10	205007570	205012462	n	Chou HT et al. 2003	12578333				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese	China|Taiwan	KGB	3586	Hs.193717			The Journal of heart valve disease. 2003 Jan;12(1):38-44	Lack of association of genetic polymorphisms in the interleukin-1beta interleukin-1 receptor antagonist interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese.		124092	3810	1	2003	 These findings suggest that the IL-1beta, IL-1Ra, IL-4 or IL-10 gene polymorphisms are not suitable genetic markers of MVP in Taiwan Chinese.											
127354	Y	recurrent pregnancy loss	OTHER	OTH	Abortion, Habitual	1	1q31-q32	IL10	205007570	205012462	0.03	Daher S 2003	12609526				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Brazil	KEW	3586	Hs.193717			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		124092	3804	1	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregn										
127355	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1q31-q32	IL10	205007570	205012462		Ide A et al. 2002	12121678			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Japan	KGB	3586	Hs.193717			Human immunology. 2002 Aug;63(8):690-5	Genetic association between interleukin-10 gene promoter region polymorphisms and type 1 diabetes age-at-onset.		124092	3805	1	2002												
127356		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		D'Alfonso S et al. 2000	10643707				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian	Italy	KGB	3586	Hs.193717			Arthritis and rheumatism. 2000 Jan;43(1):120-8	Systemic lupus erythematosus candidate genes in the Italian population: evidence for a significant association with interleukin-10.		124092	3806	1	2000	 Of the 7 candidate genes tested, only IL-10 was significantly associated with SLE in Italian patients. This genetic marker represents, apart from HLA, the only genetic susceptibility factor for SLE found so far in the Italian population.											
127349	N	Coronary Heart Disease and Myocardial Infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	1	1q31-q32	IL10	205007570	205012462	n	Koch W 2001	11689215	IL- 10 promoter polymorphisms -1082G/A. -819C/T. and -592C/A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Atherosclerosis. 2001 Nov;159(1):137-44			124092	3799	1	2001												
127350		Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity	1	1q31-q32	IL10	205007570	205012462		Rosenwasser L 1997	9351597	C-571A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Australian Caucasian		KCB	3586	Hs.193717			American journal of respiratory and critical care medicine. 1997 Oct;156(4 Pt 2):S152-5			124092	3800	1	1997												
127351	N	Longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462	n	Wang XY 2001	11640949	1082			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Finnish		TJB	3586	Hs.193717			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			124092	3801	1	2001		Case:250; Control:400										
127352	N	Asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462	n	Unoki M 2000	10830912	T-854C			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	KCB	3586	Hs.193717			Human genetics. 2000 Apr;106(4):440-6			124092	3802	1	2000												
127344	N	Human Longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462	n	Wand XY 2001	11640949	IL10- 1082			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Finnish Nonagenarians		KGB	3586	Hs.193717			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			124092	3794	1	2001		Case:250; Control:400										
127345	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	0.0001	Gibson AW 2001	11238636	-4kb to 5`			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Journal of immunology (Baltimore, Md :  1950). 2001 Mar;166(6):3915-22			124092	3795	1	2001												
127346		Longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462		Lio D 2002	11857058	``-1082G-->A. -819C-->T. and -592C-->A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian		TJB	3586	Hs.193717			Genes and immunity. 2002 Feb;3(1):30-3			124092	3796	1	2002		Case:190; Control:260										
127347	Y	Asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462	P=0.01	Lim S 1998	9672280	GCC haplotype			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	U.K. Caucasian		KCB	3586	Hs.193717			Lancet. 1998 Jul;352(9122):113			124092	3797	1	1998												
127338	Y	eosinophilia	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	P=0.036	Immervoll 2001	11668616	C-592A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Human mutation. 2001 Oct;18(4):327-36			124092	3788	1	2001												
127339	Y	eosinophilia	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	P=0.036	Immervoll T 2001	11668616	C-592A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	German. Swedish		KGB	3586	Hs.193717			Human mutation. 2001 Oct;18(4):327-36			124092	3789	1	2001												
127341	Y	Sjogrens syndrome	IMMUNE	IMM	Sjogren's Syndrome	1	1q31-q32	IL10	205007570	205012462	0.05	Hulkkonen J 2001	11212157	-10 GCC haplotype (G -1082. C -819. and C -592 of the IL-10 gene			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Arthritis and rheumatism. 2001 Jan;44(1):176-9			124092	3791	1	2001	 These results suggest that the presence of the GCC haplotype or the GCC/ATA genotype and the absence of the ACC haplotype of the IL-10 gene are associated with an increased susceptibility to primary SS. This effect is probably mediated by the increased capability to produce IL-10 among carriers of the GCC haplotype.											
127342	Y	Asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462	P=0.01	Lim S 1998	9672280	ATA			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	U.K. Caucasian		KCB	3586	Hs.193717			Lancet. 1998 Jul;352(9122):113			124092	3792	1	1998												
127334		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p11.2	IKBKB	42247985	42309122		Menzaghi C 2002	11932336				Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001556.1			Y Wang	3551	Hs.413513			The Journal of clinical endocrinology and metabolism. 2002 Apr;87(4):1894-7	Genetic variability in insulin action inhibitor Ikkbeta (IKBKB) does not play a major role in the development of type 2 diabetes.		603258	3448	1	2002	We conclude that  sequence differences in the IKBKB gene do not play a major role in either early-onset, autosomal dominant type 2 diabetes, or common forms with a later-onset.											
127335		skin squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Alamartine E 2003	12535204	GCC haplotype and ATA haplotype		other	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KEW	3586	Hs.193717			The Journal of investigative dermatology. 2003 Jan;120(1):99-103			124092	3785	1	2003		Case:70; Control:140										
127337	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis|Chronic Disease	1	1q31-q32	IL10	205007570	205012462	0.03	Huizinga TW 2000	11085795	genotype -1082GG			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Rheumatology (Oxford, England). 2000 Nov;39(11):1180-8			124092	3787	1	2000	 Both the immunogenetic and the synovial biopsies suggest that a variation in IL-10 production is associated with joint destruction.											
127331	Y	Bronchial asthma (childhood & adult)	IMMUNE	IMM	Asthma	9	9q31	IKBKAP	110669620	110736217	P=0.000004	Takeoka S 2001	11281413	T3214A (Cys1072Ser)			inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2	Japanese		KCB	8518	Hs.494738			Journal of human genetics. 2001 ;46(2):57-63			603722	6577	1	2001												
127332	N	asthma	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic	9	9q31	IKBKAP	110669620	110736217		Schuller, M.  et al. 2003	12774215				Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2	Czech	Czech Republic	CDC GDPinfo	8518	Hs.494738			Journal of human genetics. 2003 ;48(6):300-4	The role of the IKAP gene polymorphisms in atopic diseases in the middle European population		603722	11615	2	2003	These results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.	Control:309 healthy controls;Case:373 atopic asthma patients										
127333		familial dysautonomia	NEUROLOGICAL	NEUR	Dysautonomia, Familial	9	9q31	IKBKAP	110669620	110736217		Dong, J.  et al. 2002	12116234				Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2		New York	CDC GDPinfo	8518	Hs.494738			American journal of medical genetics. 2002 Jul;110(3):253-7	Familial dysautonomia: detection of the IKBKAPIVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.		603722	17683	2	2002	This sensitive and specific assay should facilitate carrier screening for FD mutations in the AJ community, as well as postnatal diagnostic testing.	Cohort 2,518 Ashkenazi Jewish individuals from the New York metropolitan area 										
127328	Y	Bronchial asthma (childhood only)	IMMUNE	IMM	Asthma	9	9q31	IKBKAP	110669620	110736217	P=0.0009	Takeoka S 2001	11281413	C3473T (Pro1158Leu)			inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2	Japanese		KCB	8518	Hs.494738			Journal of human genetics. 2001 ;46(2):57-63			603722	6574	1	2001												
127329	N	Bronchial asthma (childhood & adult)	IMMUNE	IMM	Asthma	9	9q31	IKBKAP	110669620	110736217	n	Takeoka S 2001	11281413	G2295A			inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2	Japanese		KCB	8518	Hs.494738			Journal of human genetics. 2001 ;46(2):57-63			603722	6575	1	2001												
127323	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-p13	IGSF6	21560106	21571473		King, K.  et al. 2003	12786995				Immunoglobulin superfamily, member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005849.2			CDC GDPinfo	10261	Hs.530902			European journal of immunogenetics. 2003 Jun;30(3):187-90	Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease.		606222	17681	2	2003	There was no evidence for association of the common SNPs with disease in a large cohort of patients with IBD.	Case:222 cases of inflammatory bowel disease:UK;Control:374 healthy controls										
127324	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	2	2q33-q35	IHH	219627389	219633433		Garcia-Barcelo, M. M.  et al. 2003	14651602				Indian hedgehog homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002181.1			CDC GDPinfo	3549	Hs.369782			Neurogastroenterology and motility. 2003 Dec;15(6):663-8	Is there a role for the IHH gene in Hirschsprung's disease?		600726	17682	2	2003	Despite the involvement of IHH in the development of the ENS, IHH is not a major gene in HSCR. Nevertheless, as the manifestation of the HSCR phenotype is genetic background dependent, polymorphic loci should be tested simultaneously to characterize gene-gene interaction. The involvement of IHH in other intestinal anomalies should be investigated.	Case patients with Hirschsprung's disease;Control:contorls										
127325	N	Bronchial asthma (childhood & adult)	IMMUNE	IMM	Asthma	9	9q31	IKBKAP	110669620	110736217	n	Takeoka S 2001	11281413	A2490G			inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2	Japanese		KCB	8518	Hs.494738			Journal of human genetics. 2001 ;46(2):57-63			603722	6571	1	2001												
127320	Y	nephropathy in other diseases	RENAL	REN	Glomerulonephritis, IGA	11	11q13.2-q13.4	IGHMBP2	68427894	68464645		Ohtsubo, S.  et al. 2004	15599641				Immunoglobulin mu binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002180.1			CDC GDPinfo	3508	Hs.503048			Journal of human genetics. 2005 ;50(1):30-5	Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy.		600502	11610	2	2004	The SNP (G34448A) caused an amino acid substitution from glutamine to lysine (E928K). As the gene product is involved in immunoglobulin-class switching and patients with the A allele revealed higher serum levels of IgA (p=0.048), the amino acid change might influence a class switch to increase serum IgA levels, resulting in a higher risk of IgA nephropathy.	Case:465 immunoglobulin A nephropathy subjects;Control:634:controls										
127321	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	2	2p12	IGKC	88937795	89303057		Downie-Doyle, S.  et al. 2002	12215905				Immunoglobulin kappa variable 1-5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128524			CDC GDPinfo	3514	Hs.449621			Genes and immunity. 2002 Oct;3 Suppl 1:S63-5	Immunoglobulin kappa light chain gene alleles are not associated with primary Sjogren's syndrome.		147200	11612	2	2002	We conclude that  Km alleles are not associated with primary SS or the Ro/La autoantibody response.	Case large cohort of patients with primary Sjogren's:syndrome;Control:controls										
127322		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	2	2p12	IGKC	88937795	89303057		Pandey, J. P.  et al. 2002	12039524				Immunoglobulin kappa variable 1-5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128524			CDC GDPinfo	3514	Hs.449621			Human immunology. 2002 Jun;63(6):485-91	TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis.		147200	22355	2	2002	As KM genes have been reported to be associated with immune responsiveness to several pathogens, these results may be relevant to the etiology of sarcoidosis.	Case African-American patients without erythema nodosum;Control:controls										
127317		B- and T-cell non-Hodgkin's lymphomas	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, T-Cell	14	14q32.33	IGH@				Garcia MJ et al. 2001	11385314				immunoglobulin heavy locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC070256			KGB	3492	Hs.567291			Diagnostic molecular pathology. 2001 Jun;10(2):69-77	IgH TCR-gamma and TCR-beta gene rearrangement in 80 B- and T-cell non-Hodgkin's lymphomas: study of the association between proliferation and the so-called aberrant patterns.			3447	1	2001												
127318	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	14	14q32.33	IGHG1	105273724	105402696		Pertovaara, M.  et al. 2004	15517630				Immunoglobulin heavy constant gamma 1 (G1m marker)				CDC GDPinfo	3500	Hs.510635			The Journal of rheumatology. 2004 Nov;31(11):2175-80	Immunoglobulin KM and GM gene polymorphisms modify the clinical presentation of primary Sjogren's syndrome.		147100	11611	2	2004	 Ig KM and GM genes do not contribute to susceptibility to pSS. The Ig KM1 allele is associated with several markers of immunologically active disease, whereas the Ig GM z allele is associated with milder pSS.	Case:65 Finnish Caucasian patients with primary Sjogren's:syndrome;Control:66 healthy controls										
127319		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	14	14q32.33	IGHG1	105273724	105402696		Pandey, J. P.  et al. 2002	12039524				Immunoglobulin heavy constant gamma 1 (G1m marker)				CDC GDPinfo	3500	Hs.510635			Human immunology. 2002 Jun;63(6):485-91	TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis.		147100	14379	2	2002	As KM genes have been reported to be associated with immune responsiveness to several pathogens, these results may be relevant to the etiology of sarcoidosis.	Case African-American patients without erythema nodosum;Control:controls										
127313		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Nam, R. K.  et al. 2003	14693733				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		146732	27748	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
127314	Y	breast carcinoma	CANCER	CAN	Breast Neoplasms|Disease Progression	4	4q12	IGFBP7	57592000	57671296		Burger AM et al. 1998	9627112				Insulin-like growth factor binding protein 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001553.1			KGB	3490	Hs.479808			Oncogene. 1998 May;16(19):2459-67	Down-regulation of T1A12/mac25 a novel insulin-like growth factor binding protein related gene is associated with disease progression in breast carcinomas.		602867	3445	1	1998												
127315	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	4	4q12	IGFBP7	57592000	57671296		Kawahara, C.  et al. 2005	15708897				Insulin-like growth factor binding protein 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001553.1			CDC GDPinfo	3490	Hs.479808			Annals of the rheumatic diseases. 2005 Mar;64(3):474-6	Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.		602867	22353	2	2005	 The analysis implies that the chromosome 4q female hip OA susceptibility is not coded for by polymorphism within the functional candidates IGFBP7, ADAMTS3, or IL8.	Case:244 female total hip replacement patients;Control:375 female controls matched for age										
127316		Total IgE	IMMUNE	IMM	Asthma	14	14q32.33	IGH@				Oxelius 1998	9531163	G3m(b/b)			immunoglobulin heavy locus				KGB	3492	Hs.567291			International archives of allergy and immunology. 1998 Mar;115(3):215-9				3446	1	1998												
127310		IGF-I levels; IGFBP-3 levels	IMMUNE	IMM	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Slattery, M. L.  et al. 2005	16215864				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1	Non-Hispanic White Women.		CDC GDPinfo	3486	Hs.450230			Cancer causes & control. 2005 Dec;16(10):1147-57	Genetic, Anthropometric, and Lifestyle Factors Associated with IGF-1 and IGFBP-3 Levels in Hispanic and Non-Hispanic White Women.		146732	22350	2	2005												
127311		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Slattery, M. L.  et al. 2004	15247132				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		California|Utah	CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2004 Jul;13(7):1206-14	Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer.		146732	22351	2	2004	 Both IRS1 and IRS2 variants were associated with colon cancer risk independently. Associations were slightly stronger when polymorphisms in multiple genes were evaluated in conjunction with other genes rather than individually. These data suggest that the insulin-related pathway may be important in the etiology of colon cancer but not rectal cancer.	Control:1,205 controls for rectal cancer cases;Case:1,346 colon cancer cases;Control:1,544 population-based controls for colon cancer cases;Case:952 rectal cancer cases										
127312		body mass; birth weight; height	METABOLIC	MET		7	7p13-p12	IGFBP3	45918368	45927396		Sweeney, C.  et al. 2005	16030120				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1802-9	Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women.		146732	22352	2	2005												
127306		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Wagner, K.  et al. 2005	15986122				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		Poland|Finland|Sweden	CDC GDPinfo	3486	Hs.450230			Breast cancer research and treatment. 2005 Jul;92(2):133-40	Polymorphisms in the IGF-1 and IGFBP 3 promoter and the risk of breast cancer.		146732	22346	2	2005												
127307		insulin-like growth factor-1; Insulin-like growth factor-3	UNKNOWN	UNK		7	7p13-p12	IGFBP3	45918368	45927396		Jernstrom, H.  et al. 2001	11319179				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2001 Apr;10(4):377-84	Genetic and Nongenetic Factors Associated with Variation of Plasma Levels of Insulin-like Growth Factor-I and Insulin-like Growth Factor-binding Protein-3 in Healthy Premenopausal Women		146732	22347	2	2001	Our results support the view that circulating IGF-I levels and IGFBP-3 levels are complex traits and are influenced by a number of interacting genetic and nongenetic factors.	Cohort 311 nulliparous, premenopausal Caucasian women, 17-35 years of age 	oral contraceptive									
127309		insulin-like growth factors	UNKNOWN	UNK	Colorectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Morimoto, L. M.  et al. 2005	15941947				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1394-401	Variation in plasma insulin-like growth factor-1 and insulin-like growth factor binding protein-3:genetic factors.		146732	22349	2	2005			hormone replacement therapy									
127303		breast density	NORMALVARIATION	NV	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Lai, J. H.  et al. 2004	15066922			promoter	Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		Ontario	CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2004 Apr;13(4):573-82	A polymorphic locus in the promoter region of the IGFBP3 gene is related to mammographic breast density.		146732	17677	2	2004	 This is the first study to report a strong relationship between a polymorphic gene locus (IGFBP3) and mammographic breast density. However, we could not confirm an association between serum IGF-I levels and breast density among premenopausal women, as demonstrated in previous studies.	Cohort 441 white women, recruited from Women's College Hospital Toronto, Ontario 										
127304	Y	breast cancer; insulin-like growth factor	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Fletcher, O.  et al. 2005	15668470				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):19-Feb	Polymorphisms and circulating levels in the insulin-like growth factor system and risk of breast cancer: a systematic review.		146732	22344	2	2005	Variation within the reference range of IGF-I and IGFBP-3 may confer only modest increases in breast cancer risk, and any single polymorphism may only account for a small proportion of that variation. Nevertheless, population attributable fractions for high circulating levels of IGF-I and IGFBP-3 and for common genetic variants could be substantial. Further large studies, or combined analysis of data from existing studies, are needed to quantify these effects more precisely.											
127305		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Morimoto, L. M.  et al. 2005	15894673				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		Washington	CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1204-11	Insulin-like growth factor polymorphisms and colorectal cancer risk.		146732	22345	2	2005	The current study provides some support for a role of IGFs in colorectal cancer etiology, particularly in mediating the relationship of common risk factors (physical activity, BMI, and postmenopausal hormone use).	Control:503 age- and sex-matched cancer-free population:controls;Case:782 male and female colorectal cancer cases:Seattle, WA:1998 - 2002	body mass hormone replacement therapy physical activity									
127300	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Le Marchand, L.  et al. 2005	15894694				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1319-21	Association of an exon 1 polymorphism in the IGFBP3 gene with circulating IGFBP-3 levels and colorectal cancer risk: the multiethnic cohort study.		146732	11608	2	2005	These data suggest that the exon 1 G2133C missense variant in IGFBP3 may be a susceptibility factor for colorectal cancer.	Control:1,995:controls;Case:817 colorectal cancer cases nested within the Multiethnic Cohort study										
127301		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Moon, J. W.  et al. 2005	16049980	( -202 A/C )		promoter	Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			International journal of cancer. Journal international du cancer. 2006 Jan;118(2):353-6	Promoter -202 A/C polymorphism of insulin-like growth factor binding protein-3 gene and non-small cell lung cancer risk.		146732	11609	2	2005												
127302	N	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Schernhammer, E. S.  et al. 2003	12925957				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			International journal of cancer. Journal international du cancer. 2003 Oct;107(1):60-4	Polymorphic variation at the -202 locus in IGFBP3:Influence on serum levels of insulin-like growth factors, interaction with plasma retinol and vitamin D and breast cancer risk		146732	17676	2	2003	Our data do not demonstrate a significant influence of this locus on breast cancer risk, but we cannot exclude a minor influence or an influence confined to subgroups.	Case:677 women with incident breast cancer from the Nurses' Health Study (NHS);Control:834 matched controls										
127297	N	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	7	7p13-p12	IGFBP3	45918368	45927396		Wang, L.  et al. 2003	12907612	( -202 A/C )			Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1	Japanese		CDC GDPinfo	3486	Hs.450230			Cancer research. 2003 Aug;63(15):4407-11	Insulin-like growth factor-binding protein-3 gene -202 A/C polymorphism is correlated with advanced disease status in prostate cancer.		146732	11605	2	2003	In conclusion, the IGFBP-3 -202 A/C polymorphism was not associated with susceptibility to PCa and BPH in Japanese men, but the presence of the C allele may cumulatively increase the risk for tumor metastasis and for having tumors with a biologically more aggressive phenotype. Because of the significant differences in incidence of clinically evident PCa according to racial backgrounds, the conjecture should be further examined in different racial populations.	Control:227 male controls;Case:307 Japanese prostate cancer patients (n=307) and benign prostatic hyperplasia (n=221) patients										
127298	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Ren, Z.  et al. 2004	15298948				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		China	CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1290-5	Genetic Polymorphisms in the IGFBP3 Gene:Association with Breast Cancer Risk and Blood IGFBP-3 Protein Levels among Chinese Women		146732	11606	2	2004	These results indicated that IGFBP3 polymorphisms may be associated with the level of blood IGFBP-3 protein and an increased risk of breast cancer.	Case:1,193 breast cancer cases:Shanghai;Control:1,310 community controls										
127299		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Friedrichsen, D. M.  et al. 2005	15800934				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			The Prostate. 2005 Sep;65(1):44-51	IGF-I and IGFBP-3 polymorphisms and risk of prostate cancer.		146732	11607	2	2005	 Further evaluation of the IGF-I CA-repeat polymorphism and prostate cancer is necessary to determine if the modest risk reduction associated with the 19-CA-repeat homozygous state is observed in other study populations.	Case middle-aged prostate cancer cases;Control population-based controls										
127294	N	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Schernhammer ES 2003	12925957	-202			Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			KGB	3486	Hs.450230			International journal of cancer. Journal international du cancer. 2003 Oct;107(1):60-4	Polymorphic variation at the -202 locus in IGFBP3: Influence on serum levels of insulin-like growth factors, interaction with plasma retinol and vitamin D and breast cancer risk.		146732	3442	1	2003	Our data do not demonstrate a significant influence of this locus on breast cancer risk, but we cannot exclude a minor influence or an influence confined to subgroups.	Case:677 women with incident breast cancer from the Nurses' Health Study (NHS);Control:834 matched controls										
127295		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	7	7p13-p12	IGFBP3	45918368	45927396		Wang L 2003	12907612	-202 A/C			Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			KGB	3486	Hs.450230			Cancer research. 2003 Aug;63(15):4407-11	Insulin-like growth factor-binding protein-3 gene -202 A/C polymorphism is correlated with advanced disease status in prostate cancer.		146732	3443	1	2003	In conclusion, the IGFBP-3 -202 A/C polymorphism was not associated with susceptibility to PCa and BPH in Japanese men, but the presence of the C allele may cumulatively increase the risk for tumor metastasis and for having tumors with a biologically more aggressive phenotype. Because of the significant differences in incidence of clinically evident PCa according to racial backgrounds, the conjecture should be further examined in different racial populations.	Control:227 male controls;Case:307 Japanese prostate cancer patients (n=307) and benign prostatic hyperplasia (n=221) patients										
127296		Insulin-like growth factor-3; retinol	UNKNOWN	UNK	Colorectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Deal, C.  et al. 2001	11238520			promoter	Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			The Journal of clinical endocrinology and metabolism. 2001 Mar;86(3):1274-80	Novel promoter polymorphism in insulin-like growth factor-binding protein-3: correlation with serumlevels and interaction with known regulators.		146732	11604	2	2001	The IGFBP3 promoter region deserves investigation as a locus where polymorphic variation occurs frequently and may influence GH responsiveness, somatic growth, and possibly cancer risk.	Cohort 478 men from the Physician's Health Study 										
127291	N	intrauterine growth	REPRODUCTION	REP	Birth Weight	6	6q26	IGF2R	160310120	160447573		Kukuvitis, A.  et al. 2004	15506681				Insulin-like growth factor 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000876.1			CDC GDPinfo	3482	Hs.487062			Journal of pediatric endocrinology & metabolism. 2004 Sep;17(9):1215-20	Lack of association of birth size with polymorphisms of two imprinted genes, IGF2R and GRB10		147280	22343	2	2004	Thus, we found no evidence that IGF2R variants modulate intrauterine growth within the normal range. If such variants exist in GRB10, they are not in linkage disequilibrium with the marker studied.	Cohort 97 normal newborns Greece 										
127292		diabetes, type 2; obesity	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	6	6q26	IGF2R	160310120	160447573		San Millan, J. L.  et al. 2004	15181035				Insulin-like growth factor 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000876.1			CDC GDPinfo	3482	Hs.487062			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2640-6	Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.		147280	26244	2	2004	In conclusion, the paraoxonase -108 C-->T variant and the ApaI polymorphism in the IGF2 gene are associated with PCOS and might contribute to increased oxidative stress, insulin resistance, and hyperandrogenism in this prevalent disorder.	Control:42 healthy controls;Case:72 polycystic ovary syndrome patients										
127293		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33-q34	IGFBP2	217206371	217237403		Owerbach D 2004	9166681				Insulin-like growth factor binding protein 2, 36kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000597.2			Y Wang	3485	Hs.438102			Diabetes. 1997 Jun;46(6):1069-74	Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35.		146731	3441	1	2004												
127288		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	12	12q22-q23	IGF1	101313805	101398454		Watanabe, I.  et al. 2003	12732844				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Japanese	Japan	CDC GDPinfo	3479	Hs.160562			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		147440	28533	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
127289	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	6	6q26	IGF2R	160310120	160447573		Zavras, A. I.  et al. 2003	12543777				Insulin-like growth factor 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000876.1			CDC GDPinfo	3482	Hs.487062			Cancer research. 2003 Jan;63(2):296-7	Insulin-like Growth Factor II Receptor Gene-167 Genotype Increases the Risk of Oral Squamous Cell Carcinoma in Humans		147280	17673	2	2003	Our results suggest that genetic variation of IGF2R may influence significantly the risk of oral cancer.	Case oral cancer cases from a hospital-based case-control study;Control										
127290		height	NORMALVARIATION	NV		6	6q26	IGF2R	160310120	160447573		Petry, C. J.  et al. 2005	16172012				Insulin-like growth factor 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000876.1			CDC GDPinfo	3482	Hs.487062			Growth hormone & IGF research. 2005 Dec;15(6):363-8	Genetic variation in the type 2 insulin-like growth factor receptor gene and disparity in childhood height.		147280	17675	2	2005	 Allelic variation in the gly1619arg SNP of the IGF2R gene is associated with disparity in childhood stature which could reflect altered binding of IGF-II to its receptor.											
127285	Y	insulin-like growth factor-1; estrogen metabolism	UNKNOWN	UNK	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Jernstrom, H.  et al. 2001	11161840				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Molecular genetics and metabolism. 2001 Feb;72(2):144-54	Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1:implications for premenopausal breast cancer risk.		147440	22339	2	2001	Polymorphic variants in the CYP3A4, IGF1, and AIB1 genes are associated with increases in the plasma levels of IGF-I among oral contraceptive users and the variant alleles are much more common in black women than in white women. The high incidence of premenopausal breast cancer among black women may be mediated through genetic modifiers of circulating levels of IGF-I.	Cohort 503 nulligravid women between the ages of 17 and 35 										
127286		breast cancer	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454			16322331				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Endocrine-related cancer. 2005 Dec;12(4):917-28	Association of polymorphisms and haplotypes in the human growth hormone 1 (GH1) gene with breast cancer		147440	22340	2	2005												
127287	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Nam, R. K.  et al. 2003	14693733				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		147440	27483	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
127282	Y	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	12	12q22-q23	IGF1	101313805	101398454		Ruigrok, Y. M.  et al. 2005	15726267				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		147440	22336	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
127283	Y	osteoporosis; cirrhosis, primary biliary	METABOLIC	MET	Bone Diseases|Liver Cirrhosis, Biliary	12	12q22-q23	IGF1	101313805	101398454		Lakatos, P. L.  et al. 2004	15049048				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Orvosi hetilap. 2004 Feb;145(7):331-6	[In Process Citation]		147440	22337	2	2004	 In contrast to previous studies the s allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.	Control:139 age-matched female subjects;Case:70 female patients with primary biliary cirrhosis										
127284		osteoarthritis	METABOLIC	MET	Osteoarthritis	12	12q22-q23	IGF1	101313805	101398454		Zhai, G.  et al. 2004	15082485				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Annals of the rheumatic diseases. 2004 May;63(5):544-8	Insulin-like growth factor I gene promoter polymorphism, collagen type II alpha1 (COL2A1) gene, and the prevalence of radiographic osteoarthritis: the Rotterdam Study.		147440	22338	2	2004	 SUBJECTS: with genetically determined low IGF-I expression (non-carriers of the 192 bp allele) may be at increased risk of ROA before the age of 65 years. Furthermore, an interaction between the IGF-I and COL2A1 genes is suggested.	Cohort 1,546/808 individuals genotyped for IGF-I (n = 1546) and COL2A1 gene polymorphisms (n = 808) were selected from a random sample (n = 1583) derived from the Rotterdam study 										
127279		insulin-like growth factors	UNKNOWN	UNK	Colorectal Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Morimoto, L. M.  et al. 2005	15941947				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1394-401	Variation in plasma insulin-like growth factor-1 and insulin-like growth factor binding protein-3:genetic factors.		147440	17665	2	2005			hormone replacement therapy									
127280	Y	IGF-I levels; IGFBP-3 levels	IMMUNE	IMM	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Slattery, M. L.  et al. 2005	16215864				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Non-Hispanic White Women.		CDC GDPinfo	3479	Hs.160562			Cancer causes & control. 2005 Dec;16(10):1147-57	Genetic, Anthropometric, and Lifestyle Factors Associated with IGF-1 and IGFBP-3 Levels in Hispanic and Non-Hispanic White Women.		147440	17666	2	2005												
127281		diabetes, type 2; obesity	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		San Millan, J. L.  et al. 2004	15181035				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2640-6	Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.		147440	17674	2	2004	In conclusion, the paraoxonase -108 C-->T variant and the ApaI polymorphism in the IGF2 gene are associated with PCOS and might contribute to increased oxidative stress, insulin resistance, and hyperandrogenism in this prevalent disorder.	Control:42 healthy controls;Case:72 polycystic ovary syndrome patients										
127276	N	insulin	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		T Hart, L. M.  et al. 2004	14749262				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Diabetes. 2004 Feb;53 Suppl 1:S26-30	Genetic factors and insulin secretion: genevariants in the IGF genes.		147440	17660	2	2004	We conclude that  gene variants in the IGF-I and IGF-II genes are not associated with detectable variations in glucose-stimulated insulin secretion in these three independent populations. Further studies are needed to examine the exact contributions of the IGF-I CA repeat alleles to variations in ISI and DI.	Cohort 237 normal and impaired glucose-tolerant subjects the Netherlands and Germany 										
127277	Y	body height	METABOLIC	MET	Body Weight	12	12q22-q23	IGF1	101313805	101398454		Rietveld, I.  et al. 2004	15272914				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Dutch		CDC GDPinfo	3479	Hs.160562			Clinical endocrinology. 2004 Aug;61(2):195-203	A polymorphic CA repeat in the IGF-I gene is associated with gender-specific differences in body height, but has no effect on the secular trend in body height.		147440	17662	2	2004	 In conclusion, we observed an optimum in IGF-I levels and final body height for the 192-bp and 194-bp allele of the IGF-I gene. A gender-specific effect of the IGF-I alleles on body height was observed. The secular trend in body height observed in our elderly Dutch population was similar for the different genotypes; carriers of the 192-bp and/or the 194-bp allele remained significantly taller throughout time.	Cohort participants from the Rotterdam Study born between 1917 and 1945 the Netherlands 										
127278		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Schildkraut, J. M.  et al. 2005	15734965				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):403-8	IGF1 (CA)19 repeat and IGFBP3 -202 A/C genotypes and the risk of prostate cancer in Black and White men.		147440	17664	2	2005	Further research is needed to confirm these findings.	Case:100 prostate cancer cases identified atDurham Veterans Administration Medical Center over a 2.5-year:period;Control:93 frequency matched controls										
127273	N	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Missmer, S. A.  et al. 2002	12115549				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			International journal of cancer. Journal international du cancer. 2002 Jul;100(3):332-6	A sequence repeat in the insulin-like growth factor-1 gene and risk of breast cancer.		147440	17657	2	2002	Although a modest association cannot be excluded, our data do not support an important relation between this IGF-1 gene polymorphism and breast cancer risk.	Case:463 cases of breast cancer matched by age, menopausal status, postmenopausal hormone use, month and time of day of blood collection and fasting status;Control:622 controls, matched 1-2 per case,										
127274	Y	small for gestational age	UNKNOWN	UNK		12	12q22-q23	IGF1	101313805	101398454		Johnston, L. B.  et al. 2002	12511011				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Journal of pediatric endocrinology & metabolism. 2002 Dec;15 Suppl 5:1459	Gene association studies in small for gestational age infants.		147440	17658	2	2002	In conclusion, these studies show an association between IGF-I markers and birth size alone, symmetrical SGA, low birth weight-only SGA, and short SGA phenotypes. This suggests that IFG-I genetic variation influences growth and metabolism in fetal and postnatal life.	Cohort 120/166/124 three populations of SGA infants (120 in Haguenau, 166 in Gothenburg, and 124 in Rotterdam) Germany, France, The Netherlands 										
127275		short stature	UNKNOWN	UNK	Growth Disorders	12	12q22-q23	IGF1	101313805	101398454		Obrepalska-Steplowska, A.  et al. 2003	14714750			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Journal of pediatric endocrinology & metabolism. 2003 Dec;16(9):1267-75	Analysis of coding and promoter sequences of the IGF-I gene in children with growth disorders presenting with normal level of growth hormone		147440	17659	2	2003	We conclude that  testing the IGF-I P1 region, using PCR/SSCP analysis, could be useful in the diagnosis of growth disorders.	Cohort a population of children with growth disorders presenting with normal GH and low IGF-I 										
127270		body mass; birth weight; height	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Sweeney, C.  et al. 2005	16030120				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1802-9	Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women.		147440	11592	2	2005												
127271	Y	insulin-like growth factor-1; Insulin-like growth factor-3	UNKNOWN	UNK		12	12q22-q23	IGF1	101313805	101398454		Jernstrom, H.  et al. 2001	11319179				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2001 Apr;10(4):377-84	Genetic and Nongenetic Factors Associated with Variation of Plasma Levels of Insulin-like Growth Factor-I and Insulin-like Growth Factor-binding Protein-3 in Healthy Premenopausal Women		147440	17655	2	2001	Our results support the view that circulating IGF-I levels and IGFBP-3 levels are complex traits and are influenced by a number of interacting genetic and nongenetic factors.	Cohort 311 nulliparous, premenopausal Caucasian women, 17-35 years of age 	oral contraceptive									
127272		low birthweight	DEVELOPMENTAL	DEV	Myocardial Infarction|Diabetes Mellitus, Type 2	12	12q22-q23	IGF1	101313805	101398454		Vaessen, N.  et al. 2002	11937187				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Lancet. 2002 Mar;359(9311):1036-7	Association between genetic variation in the gene for insulin-like growth factor-I and low birthweight.		147440	17656	2	2002	Our data lend support to the hypothesis that genetic variation affecting fetal growth could account for the association between low birthweight and susceptibility to diabetes and cardiovascular disease in later life.											
127266		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Neuhausen, S. L.  et al. 2005	15678496				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			The Prostate. 2005 Jul;64(2):168-74	Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972Rvariant and cancer risk		147440	11588	2	2005	 These results support a role of the insulin and/or insulin-like growth factor pathways in the etiology of prostate cancer.	Case:199 incident prostate cancer cases;Control:267 age-matched controls										
127267		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Morimoto, L. M.  et al. 2005	15894673				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Washington	CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1204-11	Insulin-like growth factor polymorphisms and colorectal cancer risk.		147440	11589	2	2005	The current study provides some support for a role of IGFs in colorectal cancer etiology, particularly in mediating the relationship of common risk factors (physical activity, BMI, and postmenopausal hormone use).	Control:503 age- and sex-matched cancer-free population:controls;Case:782 male and female colorectal cancer cases:Seattle, WA:1998 - 2002	body mass hormone replacement therapy physical activity									
127268	Y	diabetes, type 2; cardiovascular disease; birth weight	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Te Velde, S. J.  et al. 2005	15927083			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			BMC endocrine disorders [electronic resource]. 2005 Jun;5:5	An IGF-I promoter polymorphism modifies the relationships between birth weight and risk factors for cardiovascular disease and diabetes at age 36.		147440	11590	2	2005	 The polymorphism in the promoter region of the IGF-I gene is related to birth weight in men only, and to LDL concentration only. Furthermore, the genotype for this polymorphism modified the relationships between birth weight and the risk factors, especially for systolic and diastolic blood pressure.	Cohort 264 subjects (mean age 36 years) who had data available on birth weight, IGF-I promoter polymorphism genotype, CVD and DM-2 risk factor 	birth weight									
127263	Y	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Tsuchiya, N.  et al. 2005	15586244				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Japanese		CDC GDPinfo	3479	Hs.160562			International journal of oncology. 2005 Jan;26(1):225-31	CA repeat polymorphism in the insulin-like growth factor-I gene is associated with increased risk of prostate cancer and benign prostatic hyperplasia.		147440	11585	2	2005	In conclusion, the 19-allele of IGF-I appears to increase the risk of prostate cancer and BPH with a gene dosage effect in the Japanese population.	Control:262:controls;Case:303/219 Japanese prostate cancer (n=303) and benign prostatic hyperplasia (n=219) patients										
127264	Y	breast cancer; insulin-like growth factor	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Fletcher, O.  et al. 2005	15668470				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):19-Feb	Polymorphisms and circulating levels in the insulin-like growth factor system and risk of breast cancer: a systematic review.		147440	11586	2	2005	Variation within the reference range of IGF-I and IGFBP-3 may confer only modest increases in breast cancer risk, and any single polymorphism may only account for a small proportion of that variation. Nevertheless, population attributable fractions for high circulating levels of IGF-I and IGFBP-3 and for common genetic variants could be substantial. Further large studies, or combined analysis of data from existing studies, are needed to quantify these effects more precisely.											
127265	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Wong, H. L.  et al. 2005	15668488				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Chinese	Singapore|China	CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):144-51	A new single nucleotide polymorphism in the insulin-like growth factor I regulatory region associates with colorectal cancer risk in singapore chinese.		147440	11587	2	2005	In conclusion, we report a novel SNP in the IGF-I regulatory region that is associated with colorectal cancer risk.	Case:290 colorectal cancer cases nested within a cohort of Singapore Chinese:Singapore;Control:873:controls										
127260	Y	small for gestational age	DEVELOPMENTAL	DEV	Birth Weight	12	12q22-q23	IGF1	101313805	101398454		Johnston, L. B.  et al. 2003	14557458				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Swedish	France|Sweden	CDC GDPinfo	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4805-10	Association between Insulin-Like Growth Factor I (IGF-I) Polymorphisms, Circulating IGF-I, and Pre- and Postnatal Growth in Two European Small for Gestational Age Populations		147440	11582	2	2003	These studies validate the association of the IGF-I gene with birth size and refine the region of association in Swedish short SGA subjects.	Cohort 113/174 small for gestational age subjects from Haguenau, France (n = 113), and Gothenburg, Sweden (n = 174) France and Sweden 										
127261		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Slattery, M. L.  et al. 2004	15247132				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		California|Utah	CDC GDPinfo	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2004 Jul;13(7):1206-14	Associations among IRS1, IRS2, IGF1, and IGFBP3 genetic polymorphisms and colorectal cancer.		147440	11583	2	2004	 Both IRS1 and IRS2 variants were associated with colon cancer risk independently. Associations were slightly stronger when polymorphisms in multiple genes were evaluated in conjunction with other genes rather than individually. These data suggest that the insulin-related pathway may be important in the etiology of colon cancer but not rectal cancer.	Control:1,205 controls for rectal cancer cases;Case:1,346 colon cancer cases;Control:1,544 population-based controls for colon cancer cases;Case:952 rectal cancer cases		IRS1		IRS2				Y		colon cancer
127262	Y	triglycerides	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Nielsen, E. M.  et al. 2004	15302607			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Clinical biochemistry. 2004 Aug;37(8):660-5	A common polymorphism in the promoter of the IGF-I gene associates with increased fasting serum triglyceride levels in glucose-tolerant subjects.		147440	11584	2	2004	 The present study provides evidence that the common wild-type allele of the IGF-I promoter polymorphism is associated with increased levels of fasting serum triglyceride in glucose-tolerant whites.	Case:208 glucose-tolerant first-degree offspring of type 2 diabetic patients;Control:218 unrelated middle-aged subjects with normal glucose:tolerance;Control:218 glucose-tolerant control subjects;Case:694 type 2 diabetic patients										
127257	Y	diabetes, type 2; myocardial infarction	METABOLIC	MET	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Vaessen, N.  et al. 2001	11246885				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			Diabetes. 2001 Mar;50(3):637-42	A polymorphism in the gene for IGF-I: functionalproperties and risk for type 2 diabetes and myocardial infarction.		147440	11579	2	2001	Our study suggests that a genetically determined exposure to relatively low IGF-I levels is associated with an increased risk for type 2 diabetes and myocardial infarction.	Case:220 type 2 diabetic patients;Case:447 477 patients with evidence of myocardial infarction on electrocardiogram;Control:596 normoglycemic control subjects;Control:808 unspecified controls										
127258	Y	IGF-I	IMMUNE	IMM		12	12q22-q23	IGF1	101313805	101398454		Rietveld, I.  et al. 2003	12590635				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDPinfo	3479	Hs.160562			European journal of endocrinology. 2003 Feb;148(2):171-5	A polymorphism in the IGF-I gene influences the age-related decline in circulating total IGF-I levels.		147440	11580	2	2003	 We observed only in homozygous carriers of the 192 bp alleles of the IGF-I gene an age-related decline in circulating total IGF-I levels, but not in heterozygotes and non-carriers of the 192 bp allele. We hypothesize that this IGF-I gene polymorphism directly or indirectly influences GH-mediated regulation of IGF-I secretion.	Cohort 346 										
127259		bone density	METABOLIC	MET	Diabetes Mellitus, Type 2|Birth Weight	12	12q22-q23	IGF1	101313805	101398454		Rivadeneira, F.  et al. 2003	12915683			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Netherlands	CDC GDPinfo	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3878-84	Association between an insulin-like growth factor I gene promoter polymorphism and bone mineral density in the elderly: the Rotterdam Study		147440	11581	2	2003	Our findings suggest that this promoter polymorphism or another functional polymorphism in linkage disequilibrium may be a genetic determinant of BMD levels and rate of bone loss in postmenopausal women.	Cohort 5,648/4,134 5648 and 4134 individuals at baseline and follow-up ( approximately 2 yr later) 										
127253		bone mineral density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Takacs I et al. 1999	10599704				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 1999 Dec;84(12):4467-71	Sibling pair linkage and association studies between bone mineral density and the insulin-like growth factor I gene locus.		147440	3436	1	1999												
127254	Y	bone mineral density	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Rosen CJ et al. 1998	9661596				insulin-like growth factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 1998 Jul;83(7):2286-90	Association between serum insulin growth factor-I (IGF-I) and a simple sequence repeat in IGF-I gene: implications for genetic studies of bone mineral density.		147440	3437	1	1998												
127255		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-q23	IGF1	101313805	101398454		Frayling TM et al. 2002	12086966				insulin-like growth factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	U.K.	Great Britain	KGB	3479	Hs.160562			Diabetes. 2002 Jul;51(7):2313-6	A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes adult height glucose tolerance and fetal growth in U.K. populations.		147440	3438	1	2002												
127256	N	cytosine-adenosine repeat polymorphism of IGF-I gene	OTHER	OTH		12	12q22-q23	IGF1	101313805	101398454	n	Allen NE et al. 2002	11895885				insulin-like growth factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			Cancer epidemiology, biomarkers & prevention. 2002 Mar;11(3):319-20	Serum insulin-like growth factor I (IGF-I) concentration in men is not associated with the cytosine-adenosine repeat polymorphism of the IGF-I gene.		147440	3440	1	2002												
127250	Y	postnatal growth	DEVELOPMENTAL	DEV	Birth Weight	12	12q22-q23	IGF1	101313805	101398454		Johnston LB 2003	14557458				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	unknown	France|Sweden	KGB	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4805-10	Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I~~~ and pre- and postnatal growth in two European small for gestational age populations.		147440	3433	1	2003	These studies validate the association of the IGF-I gene with birth size and refine the region of association in Swedish short SGA subjects.	Cohort 113/174 small for gestational age subjects from Haguenau, France (n = 113), and Gothenburg, Sweden (n = 174) France and Sweden										
127251	Y	primary biliary cirrhosis]	METABOLIC	MET	Bone Diseases|Liver Cirrhosis, Biliary	12	12q22-q23	IGF1	101313805	101398454		Lakatos PL 2004	15049048				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562	bone mineral density		Orvosi hetilap. 2004 Feb;145(7):331-6	Decreased bone mineral density and gene polymorphism in primary biliary cirrhosis , trans Csokkent csontasvanyianyag-tartalom es genpolimorfizmus primer biliaris cirrhosisban.		147440	3434	1	2004	 In contrast to previous studies the s allele was less frequent in patients with PBC, and its presence was not associated with lower bone mineral density. Since IGF-I polymorphism was associated to BMD, it may be hypothesized that IGF-I microsatellite repeat polymorphism together with other genetic and environmental factors may be involved in the complex regulation of BMD in PBC.	Control:139 age-matched female subjects;Case:70 female patients with primary biliary cirrhosis										
127252	Y	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Vaessen N 2001	11246885				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			Y Wang	3479	Hs.160562			Diabetes. 2001 Mar;50(3):637-42	A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction.		147440	3435	1	2001	Our study suggests that a genetically determined exposure to relatively low IGF-I levels is associated with an increased risk for type 2 diabetes and myocardial infarction.	Case:220 type 2 diabetic patients;Case:447 477 patients with evidence of myocardial infarction on electrocardiogram;Control:596 normoglycemic control subjects;Control:808 unspecified controls										
127248	Y	bone mineral density	METABOLIC	MET	Diabetes Mellitus, Type 2|Birth Weight	12	12q22-q23	IGF1	101313805	101398454		Rivadeneira F 2003	12915683			5'promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Netherlands	KGB	3479	Hs.160562			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3878-84	Association between an insulin-like growth factor I gene promoter polymorphism and bone mineral density in the elderly: the Rotterdam Study.		147440	3431	1	2003	Our findings suggest that this promoter polymorphism or another functional polymorphism in linkage disequilibrium may be a genetic determinant of BMD levels and rate of bone loss in postmenopausal women.	Cohort 5,648/4,134 5648 and 4134 individuals at baseline and follow-up ( approximately 2 yr later)										
127249		hypertension	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension	12	12q22-q23	IGF1	101313805	101398454		Schut AF 2003	12791939			5'promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Netherlands	KGB	3479	Hs.160562			Stroke; a journal of cerebral circulation. 2003 Jul;34(7):1623-7	Polymorphism in the promoter region of the insulin-like growth factor I gene is related to carotid intima-media thickness and aortic pulse wave velocity in subjects with hypertension.		147440	3432	1	2003	 Our study suggests that hypertensive subjects who have low IGF-I levels because of a genetic polymorphism in the IGF-I gene are at increased risk of developing atherosclerosis.											
127242		stature among African Pygmies	OTHER	OTH		12	12q22-q23	IGF1	101313805	101398454		Bowcock A et al. 1990	2394448				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	African Pygmies		KGB	3479	Hs.160562			Human genetics. 1990 Aug;85(3):349-54	Polymorphism and mapping of the IGF1 gene and absence of association with stature among African Pygmies.		147440	3425	1	1990												
127243		osteoarthritis	METABOLIC	MET	Osteoarthritis	12	12q22-q23	IGF1	101313805	101398454		Meulenbelt I et al. 1998	9771213				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			Annals of the rheumatic diseases. 1998 Jun;57(6):371-4	A genetic association study of the IGF-1 gene and radiological osteoarthritis in a population-based cohort study (the Rotterdam Study).		147440	3426	1	1998	 These results suggest that variation at the IGF-1 locus is associated with ROA development and may play a part in ROA pathogenesis. To confirm these findings replication in another population-based sample is needed.											
127244	Y	Laron-type dwarfism	OTHER	OTH	Dwarfism	12	12q22-q23	IGF1	101313805	101398454		Russell RE et al. 1989	2567724				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			Israel journal of medical sciences. 1989 Jun;25(6):342-4	Laron-type dwarfism is associated with normal growth hormone and insulin-like growth factor I gene restriction patterns.		147440	3427	1	1989												
127239		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	21	21q22.11	IFNGR2	33679168	33731696		Inoue, T.  et al. 2002	12020266				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2	Japanese		CDC GDPinfo	3460	Hs.517240			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		147569	24921	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
127240		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	21	21q22.11	IFNGR2	33679168	33731696		Nakao, F.  et al. 2001	11240951				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2	Japanese		CDC GDPinfo	3460	Hs.517240			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147569	24922	2	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population 										
127241		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	21	21q22.11	IFNGR2	33679168	33731696		Akahoshi, M.  et al. 2004	15004750				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2		Japan	CDC GDPinfo	3460	Hs.517240			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		147569	27003	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127236	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	21	21q22.11	IFNGR2	33679168	33731696		Schrijver, H. M.  et al. 2004	15182327				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2		Netherlands	CDC GDPinfo	3460	Hs.517240			European journal of immunogenetics. 2004 Jun;31(3):133-40	Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis.		147569	22334	2	2004	The IFNG intron 1 gene polymorphism studied is unlikely to play a major role in MS susceptibility or disease course. The IFNGR1 and IFNGR2 gene polymorphisms studied do not exert an important influence on MS susceptibility, but allele IFNGR2*Arg64 may be associated with a progressive disease onset.	Control:193 healthy controls;Case:509 multiple sclerosis patients										
127237		lupus erythematosus	IMMUNE	IMM		21	21q22.11	IFNGR2	33679168	33731696		Yao, X.  et al. 2005	15952126				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDPinfo	3460	Hs.517240			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):320-3	[Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus]		147569	22335	2	2005	 The IFN-GammaR2 Arg64/Arg64 genotype does not determine susceptibility to SLE in Chinese people, and the combination of IFN-Gamma R2 Arg64/Arg64 genotype and IFN-Gamma R1 Val14/Val14 genotype does not, either.											
127238		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Postoperative Complications	21	21q22.11	IFNGR2	33679168	33731696		Tiroch, K.  et al. 2005	16115485				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDPinfo	3460	Hs.517240			Atherosclerosis. 2005 Sep;182(1):145-51	Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting.		147569	24920	2	2005												
127233		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	21	21q22.11	IFNGR2	33679168	33731696		Gao 1999	10491309	Arg64Gln			Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2		Japan|Great Britain	KCB	3460	Hs.517240			Biochemical and biophysical research communications. 1999 Sep;263(2):425-9			147569	3423	1	1999												
127234		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	21	21q22.11	IFNGR2	33679168	33731696		Nakashima H 1999	10403400				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			Y Wang	3460	Hs.517240			FEBS letters. 1999 Jun;453(2-Jan):187-90	The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus.		147569	3424	1	1999												
127235		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	21	21q22.11	IFNGR2	33679168	33731696		Hattori, H.  et al. 2002	12420205				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2	Japanese		CDC GDPinfo	3460	Hs.517240			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147569	22333	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
127229		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Inoue, T.  et al. 2002	12020266				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Japanese		CDC GDPinfo	3459	Hs.520414			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		107470	22331	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
127230		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6q23-q24	IFNGR1	137560314	137582200		Nakao, F.  et al. 2001	11240951				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Japanese		CDC GDPinfo	3459	Hs.520414			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		107470	22332	2	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population 										
127231		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	6	6q23-q24	IFNGR1	137560314	137582200		Akahoshi, M.  et al. 2004	15004750				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Japan	CDC GDPinfo	3459	Hs.520414			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		107470	26243	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127226	N	leprosy	INFECTION	INF	Leprosy, Lepromatous|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Lee, S. B.  et al. 2003	12743658				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Korean	Korea	CDC GDPinfo	3459	Hs.520414			Immunogenetics. 2003 Jun;55(3):177-81	Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.		107470	17700	2	2003	In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.	Case:93 Korean lepromatous leprosy patients;Control:94 control subjects										
127227	N	tuberculosis	INFECTION	INF	Tuberculosis|Disease Susceptibility	6	6q23-q24	IFNGR1	137560314	137582200		Park, G. Y.  et al. 2004	15527154				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			The international journal of tuberculosis and lung disease. 2004 Oct;8(10):1221-7	Functional and genetic assessment of IFN-gamma receptor in patients with clinical tuberculosis.		107470	19718	2	2004	 These results suggest that impairment of the IFN-gamma signalling pathway did not account for cases of clinical TB in this study.	Control:controls;Case:18 patients with disseminated TB										
127228		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Postoperative Complications	6	6q23-q24	IFNGR1	137560314	137582200		Tiroch, K.  et al. 2005	16115485				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			Atherosclerosis. 2005 Sep;182(1):145-51	Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting.		107470	22330	2	2005												
127223	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Schrijver, H. M.  et al. 2004	15182327				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Netherlands	CDC GDPinfo	3459	Hs.520414			European journal of immunogenetics. 2004 Jun;31(3):133-40	Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis.		107470	11576	2	2004	The IFNG intron 1 gene polymorphism studied is unlikely to play a major role in MS susceptibility or disease course. The IFNGR1 and IFNGR2 gene polymorphisms studied do not exert an important influence on MS susceptibility, but allele IFNGR2*Arg64 may be associated with a progressive disease onset.	Control:193 healthy controls;Case:509 multiple sclerosis patients										
127224		lupus erythematosus	IMMUNE	IMM		6	6q23-q24	IFNGR1	137560314	137582200		Yao, X.  et al. 2005	15952126				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):320-3	[Polymorphisms within the interferon-Gamma receptor associated with systemic lupus erythematosus]		107470	11577	2	2005	 The IFN-GammaR2 Arg64/Arg64 genotype does not determine susceptibility to SLE in Chinese people, and the combination of IFN-Gamma R2 Arg64/Arg64 genotype and IFN-Gamma R1 Val14/Val14 genotype does not, either.											
127225	Y	asthma; allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic|Hypersensitivity|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Aoki, M.  et al. 2003	12851715				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			International journal of molecular medicine. 2003 Aug;12(2):185-91	A novel single-nucleotide substitution, Leu 467 Pro, in the interferon-gamma receptor 1 gene associated with allergic diseases.		107470	17654	2	2003	Our results suggest that some allergic patients have IFNGR dysfunction, and that L467P in the IFNGR1 gene is one of candidate susceptibility genes for allergic diseases.	Control:72 non-allergic subjects;Case:89 allergic patients										
127220	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Awomoyi, A. A.  et al. 2004	15047947				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Gambian	Gambia	CDC GDPinfo	3459	Hs.520414			Thorax. 2004 Apr;59(4):291-4	No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.		107470	11573	2	2004	 These data represent an important negative finding and suggest that, while IFNGR1 is implicated in rare Mendelian susceptibility to mycobacterial disease, the common variants studied here do not have a major influence on susceptibility to pulmonary TB in The Gambian population.	Case:320 smear positive TB cases;Control:320 matched controls										
127221	N	mycobacteria	OTHER	OTH	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Rosenzweig, S. D.  et al. 2004	15207788			promoter	Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			Clinical immunology (Orlando, Fla). 2004 Jul;112(1):113-9	Interferon-gamma receptor 1 promoter polymorphisms:population distribution and functional implications		107470	11574	2	2004	The IFNGR1 MPR is a polymorphic region with at least two SNPs influencing its activity, but these are not associated with increased mycobacterial susceptibility.	Case mycobacteria-infected patients;Control African American, Caucasian and Korean controls										
127222	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Mirsaeidi, S. M.  et al. 2005	16233916				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Iranian		CDC GDPinfo	3459	Hs.520414			The Journal of infection. 2005	Lack of association between interferon-gamma receptor-1 polymorphism and pulmonary TB in Iranian population sample.		107470	11575	2	2005	 Genetically susceptibility to TB is not in 395 codon of IFN-gammaR1 in Iranian TB sample and polymorphism of this loci has occur in 2% of TB patients and 0.96% of total study population.											
127217		malaria, cerebral	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Koch, O.  et al. 2002	12023780			promoter	Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Gambia	CDC GDPinfo	3459	Hs.520414			The Journal of infectious diseases. 2002 Jun;185(11):1684-7	IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria.		107470	11570	2	2002	Further data are needed to validate this finding, but these results are reminiscent of those for other well-established heterozygote advantages, such as that associated with hemoglobin S.	Case:562 Gambian children with severe malaria:Gambia;Control:569 umbilical cord blood samples										
127218	N	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Fraser, D. A.  et al. 2003	12753505				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Croatia	CDC GDPinfo	3459	Hs.520414			Scandinavian journal of immunology. 2003 May;57(5):480-4	Interferon-gamma receptor-1 gene polymorphism in tuberculosis patients from Croatia.		107470	11571	2	2003	We conclude that  there is no evidence for disease association of the IFNGR1 gene marker in Mendelian-type (single-allele) inheritance. However, our results also suggest that unidentified allelic variations in the IFNGR1 gene might elevate or decrease the risk in this ethnic population, as a part of the multigenic predisposition to tuberculosis.	Case:120 tubercuolsis patients:Rijeka, Croatia;Control:87:controls										
127219		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Fraser, D. A.  et al. 2003	14763782				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDPinfo	3459	Hs.520414			Acta odontologica Scandinavica. 2003 Oct;61(5):297-302	Polymorphisms in an interferon-gamma receptor-1 gene marker and susceptibility to periodontitis.		107470	11572	2	2003	Our results support the multigene-environment interaction model of disease susceptibility to periodontitis.	Control:56 healthy controls;Case:62 periodontitis patients										
127214		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Nakashima H 1999	10403400				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			Y Wang	3459	Hs.520414			FEBS letters. 1999 Jun;453(2-Jan):187-90	The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus.		107470	3419	1	1999												
127215	N	pulmonary tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Awomoyi AA 2004	15047947				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Gambia	Gambia	KGB	3459	Hs.520414			Thorax. 2004 Apr;59(4):291-4	No association between interferon-gamma receptor-1 gene polymorphism and pulmonary tuberculosis in a Gambian population sample.		107470	3420	1	2004	 These data represent an important negative finding and suggest that, while IFNGR1 is implicated in rare Mendelian susceptibility to mycobacterial disease, the common variants studied here do not have a major influence on susceptibility to pulmonary TB in The Gambian population.	Case:320 smear positive TB cases;Control:320 matched controls										
127216	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6q23-q24	IFNGR1	137560314	137582200		Tanaka Y et al. 1999	10079289	(Val14Met)			Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			KGB	3459	Hs.520414			Immunogenetics. 1999 Apr;49(4):266-71	Association of the interferon-gamma receptor variant (Val14Met) with systemic lupus erythematosus.		107470	3421	1	1999												
127210	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6q23-q24	IFNGR1	137560314	137582200	n	Gao 1999	10491309				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Japan|Great Britain	KCB	3459	Hs.520414			Biochemical and biophysical research communications. 1999 Sep;263(2):425-9			107470	3415	1	1999												
127211	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6q23-q24	IFNGR1	137560314	137582200	n	Gao 1999	10491309	Val18Met			Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1		Japan|Great Britain	KCB	3459	Hs.520414			Biochemical and biophysical research communications. 1999 Sep;263(2):425-9			107470	3416	1	1999												
127212		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases	6	6q23-q24	IFNGR1	137560314	137582200		Stokkers PC et al. 1999	10207725				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			KGB	3459	Hs.520414			International journal of colorectal disease. 1999 Feb;14(1):13-7	Inflammatory bowel disease and the genes for the natural resistance-associated macrophage protein-1 and the interferon-gamma receptor 1.		107470	3417	1	1999												
127205		malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Aucan, C.  et al. 2003	12761564				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Gambia	CDC GDPinfo	3458	Hs.856			Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		147570	26242	2	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127206		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788			16323127				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		147570	27002	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
127207		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Barton, A.  et al. 2002	11981324				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147570	28228	2	2002	Review article											
127208	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6q23-q24	IFNGR1	137560314	137582200	n	Nakao 2001	11240951	Val14Met			Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			KCB	3459	Hs.520414			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504			107470	3413	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.											
127202		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Miterski, B.  et al. 2004	15018649				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Germany	CDC GDPinfo	3458	Hs.856			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		147570	24918	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
127203		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	12	12q14	IFNG	66834816	66839788		Akahoshi, M.  et al. 2004	15004750				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Japan	CDC GDPinfo	3458	Hs.856			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		147570	24919	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127204		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	12	12q14	IFNG	66834816	66839788		Helbig, K. J.  et al. 2003	12595908				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147570	26241	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
127198		graft versus host disease	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Daly, A. K.  et al. 2002	12083951				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147570	24914	2	2002	Review article											
127199		kidney transplant complications	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788			16378074				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2005 Dec;80(12):1773-82	Immune Response Gene Polymorphisms in Renal Transplant Recipients		147570	24915	2	2005	 The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.											
127200		melanoma	CANCER	CAN	Melanoma	12	12q14	IFNG	66834816	66839788		Liu, D.  et al. 2005	15709194				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Clinical cancer research. 2005 Feb;11(3):1237-46	Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study.		147570	24916	2	2005	 Cytokine gene polymorphisms predicted clinical outcome for advanced melanoma patients who received biochemotherapy. The combined effects of multiple genetic polymorphisms may provide more accurate prognostic information. Additional independent studies are needed to confirm these pilot findings.	Cohort 90 patients with stage IV melanoma treated with biochemotherapy, including cisplatin, vinblastine, and dacarbazine combined with interleukin (IL)-2 and IFN-alpha either with or without tamoxifen 	cisplatin dacarbazine IFN-alpha interleukin (IL)-2 tamoxifen vinblastine									
127195	Y	allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	12	12q14	IFNG	66834816	66839788		Nieters, A.  et al. 2001	11354638				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	German	Germany	CDC GDPinfo	3458	Hs.856			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		147570	22328	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
127196		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Donn, R. P.  et al. 2001	11315919				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147570	22329	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
127197		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	12	12q14	IFNG	66834816	66839788		Hoffmann, S.  et al. 2004	15458467				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		147570	24913	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
127191		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Syndrome	12	12q14	IFNG	66834816	66839788		Wysoczanska, B.  et al. 2004	15019280				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Immunology letters. 2004 Feb;91(3-Feb):127-31	Combined association between IFN-gamma 3,3 homozygosity and DRB1*03 in L????fgren's syndrome patients.		147570	22324	2	2004	no conclusion stated	Control:controls;Case:43 sarcoidosis patients										
127192		giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Amoli, M. M.  et al. 2004	15570643				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of rheumatology. 2004 Dec;31(12):2413-7	Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis.		147570	22325	2	2004	 Our results suggest an association with IL-4 gene polymorphism that is dependent on HLA-DRB1 genotype in GCA susceptible individuals. These data indicate an interaction between HLA-DRB1 and IL-4 that contributes to pronounced disease susceptibility.	Control:102 ethnically matched controls;Case:82 patients with biopsy proven giant cell arteritis Lugo region, Northwest Spain										
127193		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Warle, M. C.  et al. 2002	12089714				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		147570	22326	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
127188		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Fitness, J.  et al. 2004	15381817				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Malawian	Malawi	CDC GDPinfo	3458	Hs.856			The American journal of tropical medicine and hygiene. 2004 Sep;71(3):341-9	Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.		147570	22321	2	2004	Genetic susceptibility to TB in Africans appears polygenic. The relevant genes and variants may vary significantly between populations, and may be affected by HIV infection status.	Case:514 tuberculosis cases Karonga district, northern Malawi;Control:913:controls	HIV									
127189		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Martin, A. M.  et al. 2003	14566095				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147570	22322	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
127190		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	12	12q14	IFNG	66834816	66839788		Upperman, J. S.  et al. 2005	15718915				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American		CDC GDPinfo	3458	Hs.856			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		147570	22323	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
127185		lung transplant complications	OTHER	OTH	Acute Disease	12	12q14	IFNG	66834816	66839788		Zheng, H. X.  et al. 2004	15135368				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of heart and lung transplantation. 2004 May;23(5):541-6	Interleukin-10 production genotype protects against acute persistent rejection after lung transplantation.		147570	17776	2	2004	 In lung transplant recipients, the increased IL-10 production genotype protects against acute persistent rejection when compared with the intermediate or decreased IL-10 production genotypes. The intermediate IL-10 production genotype in lung transplant recipients can be differentiated into 2 haplotype responses, with the GCC/ACC haplotype associated more with acute persistent rejection. In lung transplant recipients, the immunomodulatory effects of IL-6 are differentiated in the G/C and G/G alleles in conjunction with IL-10 haplotypes, with G/C being associated with more acute persistent rejection in conjunction with the IL-10 GCC/ACC haplotype. Future pharmacogenomic models may incorporate these associations with acute persistent rejection in lung transplant recipients to formulate individualized therapeutic regimens.	Cohort 119 adult lung tranplantation recipients who underwent surveillance transbronchial biopsies during their first year after transplantation 		IL-6	G/C and G/G	IL-10	GCC/ACC			Y		acute persistent rejection after lung transplantation
127186		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	12	12q14	IFNG	66834816	66839788		Ligeiro, D.  et al. 2004	15194285				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		147570	17779	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
127187		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Pain|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Oen, K.  et al. 2005	15901906				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Rheumatology (Oxford, England). 2005 Sep;44(9):1115-21	Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis.		147570	17781	2	2005	 The correlation of IL-6 genotype with pain and the possible association of the TGF-beta1 codon 25 genotype with short-term radiographic damage (G/C with greater risk and G/G with decreased risk) suggests that both these polymorphisms may be useful early prognostic indicators. Further studies of the relation between cytokine genotypes and outcomes in patients with all forms of juvenile idiopathic arthritis (JIA) are warranted.	Cohort patients with juvenile rheumatoid arthritis who previously participated in a long-term outcome study 										
127181		disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	12	12q14	IFNG	66834816	66839788		Noponen-Hietala, N.  et al. 2005	15733644				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147570	17738	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
127183		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Embryo Loss	12	12q14	IFNG	66834816	66839788		Costeas, P. A.  et al. 2004	14969768				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2004 Feb;65(2):135-41	Th2/Th3 cytokine genotypes are associated with pregnancy loss		147570	17774	2	2004	Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.	Case abortion-prone female patients;Control women with successful pregnancies										
127184	Y	allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Gentile, D. A.  et al. 2004	15120189				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2004 Apr;65(4):347-51	Association between TNF-alpha and TGF-beta genotypes in infants and parental history of allergic rhinitis and asthma.		147570	17775	2	2004	These results suggest a role for TNF-alpha and TGF-beta1 genotypes in the pathogenesis of allergic rhinitis and asthma, respectively. If confirmed by future studies, cytokine genotyping may be a useful tool for identifying at-risk infants who may benefit from the selective use of preventative and/or early intervention treatments for these disorders.	Cohort 124 infants 										
127178		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Inoue, T.  et al. 2002	12020266				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese		CDC GDPinfo	3458	Hs.856			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		147570	17698	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
127179		hepatitis C; Schistosoma mansoni infection	INFECTION	INF	Hepatitis C, Chronic|Schistosomiasis mansoni	12	12q14	IFNG	66834816	66839788		El-Kady, I. M.  et al. 2005	15644127				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Scandinavian journal of immunology. 2005 Jan;61(1):87-91	Interleukin (IL)-4, IL-10, IL-18 and IFN-gamma cytokines pattern in patients with combined hepatitis C virus and Schistosoma mansoni infections		147570	17711	2	2005	In conclusion, schistosomiasis may downregulate the stimulatory effect of HCV on Th1 cytokines and this may lead to the chronicity of HCV infection in coinfected patients.	Case:10/15/10 patients infected with chronic HCV (n=20), patients infected with schisotosomiasis alone (n=15), and patients with chronic HCV and schistosomiasis:(n=10);Control:15 healthy control individuals matched for age and sex										
127180	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	12	12q14	IFNG	66834816	66839788		Vasilescu, A.  et al. 2003	12944981				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		147570	17733	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
127175		atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788		Hoffjan, S.  et al. 2004	15007355				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of allergy and clinical immunology. 2004 Mar;113(3):511-8	Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.		147570	17688	2	2004	 These data suggest that variations in genes involved in immune regulation are associated with biologic and clinical phenotypes in the first year of life that might increase the risk for the subsequent development of childhood asthma.	Cohort 207 European American children participating in the Childhood Origin of Asthma study 										
127176	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Tso, H. W.  et al. 2005	15815688				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Chinese	Hong Kong	CDC GDPinfo	3458	Hs.856			Genes and immunity. 2005 Jun;6(4):358-63	Association of interferon gamma and interleukin 10 genes with tuberculosis in Hong Kong Chinese.		147570	17690	2	2005	This study suggests the possible role of interferon gamma in TB susceptibility.	Case:385 HIV-negative tuberculosis patients Hong Kong;Control:451:controls										
127177		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular	12	12q14	IFNG	66834816	66839788		Nieters, A.  et al. 2005	15643599				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cancer. 2005 Feb;103(4):740-8	Effect of cytokine genotypes on the hepatitis B virus-hepatocellular carcinoma association.		147570	17693	2	2005	 Diminished cell-mediated immune response, which is controlled genetically, appeared to be an important risk determinant of HBV-related hepatocellular carcinogenesis.	Control:250 hospital controls;Case:250 patients with incident hepatocellular carcinoma:Nanning, Guangxi, China										
127171	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Chronic Disease	12	12q14	IFNG	66834816	66839788		Bogunia-Kubik, K.  et al. 2005	15749687				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Haematologica. 2005 Mar;90(3):425-6	Recipient interferon-gamma 3/3 genotype contributes to the development of chronic graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.		147570	17651	2	2005	IFN- gamma 3/3 was found to be associated with an increased risk of chronic graft-versus-host disease (GvHD) (11/27 vs 26/133, p=0.02). Forward logistic regression analysis confirmed the role of IFN-gamma 3/3 genotype as one of the risk factors for manifestation of chronic GvHD (OR=3.180, p=0.018) together with previous acute GvHD (OR=2.752, p=0.024), cyclosporine A monotherapy (OR=2.607, p=0.029) and malignant disorders (OR=4.371, p=0.032).	Cohort 160 recipients of an allogenic hematopoetic stem cell transplant 										
127172		malaria, plasmodium falciparum	INFECTION	INF	Malaria|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Koch, O.  et al. 2005	15858598				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Genes and immunity. 2005 Jun;6(4):312-8	Investigation of malaria susceptibility determinants in the IFNG/IL26/IL22 genomic region.		147570	17652	2	2005	These data provide a starting point for functional and genetic analysis of the IFNG genomic region in malaria and other infectious and inflammatory conditions affecting African populations.	Case malaria cases West Africa;Control:controls										
127174		hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic|Liver Cirrhosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Mangia, A.  et al. 2004	14698136				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cytokine. 2004 Feb;25(3):103-9	IL-10 haplotypes as possible predictors of spontaneous clearance of HCV infection		147570	17687	2	2004	 Our findings indicate that heterogeneity in the promoter region of the IL-10 gene has a role in determining a spontaneous favourable outcome of HCV infection.	Control:145 controls sharing the same ethnic background;Case:270 hepatitis C patients										
127167		HIV	INFECTION	INF	HIV Infections|Disease Progression	12	12q14	IFNG	66834816	66839788		An, P.  et al. 2003	12854077			promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of infectious diseases. 2003 Jul;188(2):228-31	A tumor necrosis factor-alpha-inducible promoter variant of interferon-gamma accelerates CD4+ T cell depletion in human immunodeficiency virus-1-infected individuals.		147570	17645	2	2003	It is possible that increased IFN-gamma production induced by TNF-alpha when -179T is present causes CD4 cell depletion by apoptosis.	Cohort 298 African American human immunodeficiency virus (HIV)-1 seroconverters 										
127168	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	12	12q14	IFNG	66834816	66839788		Rueda, B.  et al. 2004	15215891				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Genes and immunity. 2004 Sep;5(6):517-9	A functional variant of IFNgamma gene is associated with coeliac disease.		147570	17647	2	2004	Our data suggest a possible role of IFNgamma CA polymorphism in CD susceptibility.	Control:contols;Case celiac disease cases										
127170	Y	aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	12	12q14	IFNG	66834816	66839788		Dufour, C.  et al. 2004	15327519			intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Caucasian		CDC GDPinfo	3458	Hs.856			British journal of haematology. 2004 Sep;126(5):682-5	Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population.		147570	17649	2	2004	Homozygosity for 12 (CA) repeats of polymorphism VNDR 1349 of IFNG is strongly associated with the risk of AA in Caucasian subjects.	Control normal controls;Case:67 Caucasian aplastic anemia patients										
127163	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788		Nakao, F.  et al. 2001	11240951				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese		CDC GDPinfo	3458	Hs.856			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147570	11950	2	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population 										
127164	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	12	12q14	IFNG	66834816	66839788		Hattori, H.  et al. 2002	12420205				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese		CDC GDPinfo	3458	Hs.856			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147570	11952	2	2002	In conclusion, genetic backgrounds of TGF-beta1 and TGF-beta1 RII may be involved in the development of aGVHD in HLA-matched sibling BMT in Japanese children.	Cohort 67 Japanese children receiving HLA-matched sibling bone marrow translplant 										
127165		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Graft vs Host Disease	12	12q14	IFNG	66834816	66839788		Middleton, P. G.  et al. 2002	12203138				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Bone marrow transplantation. 2002 Aug;30(4):223-8	Vitamin D receptor gene polymorphism associates with graft-versus-host disease and survival in HLA-matched sibling allogeneic bone marrow transplantation.		147570	14704	2	2002	Analysis of VDR genotype in prospective BMT donors may identify individuals who have greater transplant-related mortality, and also allow appropriately restricted use of increased immunosuppressive prophylaxis.	Cohort HLA-matched sibling bone marrow transplant recipients 	immunosuppressive agents									
127159		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Bendicho, M. T.  et al. 2005	15841043				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Pancreas. 2005 May;30(4):333-6	Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis.		147570	11904	2	2005	 The genotypes corresponding to the high TGF-beta1 producer phenotypes can be associated with the fibrogenesis shown with CP.	Case:28 chronic pancreatitis patients evaluated at a university gastroenterology outpatient service;Control:94 blood donors										
127160	Y	tuberculosis	INFECTION	INF	Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	12	12q14	IFNG	66834816	66839788		Henao, M. I.  et al. 2005	15925543				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Colombian		CDC GDPinfo	3458	Hs.856			Tuberculosis (Edinburgh, Scotland). 2006 Jan;86(1):9-Nov	Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis.		147570	11910	2	2005	Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.	Case:140/30/20 patients with pulmonary TB (n=140), with pleural TB (n=30) and with miliary TB (n=20);Control:54/81 tuberculin-negative healthy controls (n=54) and tuberculin-positive heatlhy controls (n=81)										
127161		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Mihailova, S.  et al. 2005	16183136				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Bulgaria	CDC GDPinfo	3458	Hs.856			Journal of neuroimmunology. 2005 Nov;168(2-Jan):138-43	Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients.		147570	11914	2	2005												
127156	N	liver transplant	OTHER	OTH		12	12q14	IFNG	66834816	66839788		Karasu, Z.  et al. 2004	15621151				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation proceedings. 2004 Nov;36(9):2791-5	Cytokine gene polymorphism and early graft rejection in liver transplant recipients.		147570	11899	2	2004	In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.	Cohort 43 Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group. 										
127157	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	12	12q14	IFNG	66834816	66839788		Migita, K.  et al. 2005	15763337				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	CDC GDPinfo	3458	Hs.856			Journal of hepatology. 2005 Apr;42(4):505-10	Cytokine gene polymorphisms in Japanese patients with hepatitis B virus infection--association between TGF-beta1 polymorphisms and hepatocellular carcinoma.		147570	11901	2	2005	 Our findings suggest that the genetic polymorphism in codon 10 of the TGF-beta1 gene may play a role in HCC development in patients with chronic HBV infection.	Cohort 236 Japanese patients with hepatitis B virus 	hepatitis B									
127158		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	12	12q14	IFNG	66834816	66839788		Basturk, B.  et al. 2005	15784411				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cytokine. 2005 Apr;30(1):41-5	Cytokine gene polymorphisms as potential risk and protective factors in renal cell carcinoma.		147570	11902	2	2005	Nevertheless, these findings suggest that the TNF-alpha -308 G/G and TGF-beta codon 10-25 T/T-G/C genotypes may be potential risk factors for RCC, whereas TNF-alpha -308 G/A, IL-6 C/C and TGF-beta1 codon 10-25 C/C-G/G genotypes may be possible protective factors. The number of the cases has to be increased to investigate the independency of these polymorphisms involved in the oncogenesis of RCC.	Case:29 patient with renal cell carcinoma;Control:50 healthy controls										
127153	Y	longevity	AGING	AGE		12	12q14	IFNG	66834816	66839788		Pes, G. M.  et al. 2004	15462469				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Aging clinical and experimental research. 2004 Jun;16(3):244-8	Association between longevity and cytokine gene polymorphisms. A study in Sardinian centenarians.		147570	11893	2	2004	 These data indicate that gene polymorphisms of cytokines playing a major regulatory role in the inflammatory response do not affect life expectancy in the Sardinian population. Thus, cytokine/longevity associations have a population-specific component, being affected by the population-specific gene pool as well as by gene-environment interactions, behaving as survival rather than longevity genes.	Case:112:centenarians:Sardinia;Control:137 sixty-year-old controls from the same geographic:region										
127154		kidney transplant	IMMUNE	IMM	Acute Disease	12	12q14	IFNG	66834816	66839788		Alakulppi, N. S.  et al. 2004	15599305				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2004 Nov;78(10):1422-8	Cytokine gene polymorphisms and risks of acute rejection and delayed graft function after kidney transplantation.		147570	11897	2	2004	 Our results confirm that cytokine gene polymorphisms influence the outcome of kidney transplantation. Our data especially identify the TNF-alpha -308AA-genotype as a factor predisposing for AR episodes.	Cohort 291 conors and adult cadaver kidney recipients transplanted at a single transplantation center 1999 - 2002 										
127155		renal allograft outcome	UNKNOWN	UNK		12	12q14	IFNG	66834816	66839788		Delaney, N. L.  et al. 2004	15603866				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American		CDC GDPinfo	3458	Hs.856			Human immunology. 2004 Dec;65(12):1413-9	TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops:Part IV.		147570	11898	2	2004	Because levels of expression can affect inflammation and immune regulation, differences in cytokine allele frequencies between racial or ethnic groups may contribute to different incidences of autoimmunity and allograft rejection.	Cohort 691/296 unrelated adult African Americans (n=691) and Cuban Americans (n=296) 										
127150		kidney transplant	IMMUNE	IMM	Hypertension|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease|Hyperuricemia	12	12q14	IFNG	66834816	66839788		Babel, N.  et al. 2004	15200452				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Kidney international. 2004 Jul;66(1):428-32	Nonimmunologic complications and gene polymorphisms of immunoregulatory cytokines in long-term renal transplants		147570	11887	2	2004	 We established an association of particular cytokine genotypes with nonimmunologic post-transplant complications. This supports an idea that assessment of cytokine SNPs may allow more accurate prediction of nonimmunologic complications and appropriate adjustment of pre-emptive treatments in long-term transplant patients.	Cohort 278 long-term renal transplant subjects 										
127151		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Recurrence	12	12q14	IFNG	66834816	66839788		Ben-Ari, Z.  et al. 2004	15207246				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cytokine. 2004 Jul;27(1):14-Jul	Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation		147570	11888	2	2004	These findings might help to design preemptive prevention therapy in selected patients at risk.	Cohort 36 chronic hepatitis C patients 										
127152		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	12	12q14	IFNG	66834816	66839788		Prigoshin, N.  et al. 2004	15214940				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Caucasian		CDC GDPinfo	3458	Hs.856			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):36-41	Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause.		147570	11889	2	2004	 This finding would support the concept of involvement of IFN-gamma +874 A --> T in the pathogenesis of RPL of unknown cause in the Caucasian Argentine population.	Case:41 women with reccurent pregnancy loss;Control:54 control women who had at least two children and without known pregnancy losses										
127147		heart transplant complications	OTHER	OTH	Infection	12	12q14	IFNG	66834816	66839788		Gourley, I. S.  et al. 2004	15041164				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2004 Mar;65(3):248-54	The effect of recipient cytokine gene polymorphism on cardiac transplantation outcome		147570	11882	2	2004	Patients with the TGF-beta genotype 10 T/T 25 G/G or 10 T/C 25 G/G had a longer time to first rejection (median time to first rejection episode 321 days) than those with the TGF-beta genotype 10C/C 25 G/C or 10 C/C 25 C/C (median time to first rejection 88 days). There was a trend toward a higher frequency of the tumor necrosis factor-alpha genotype -308 G/A or A/A in patients without infection (19/59, 32%) as compared with patients with infection (5/31, 16%). In both cases, these differences failed to reach significance when adjusted for multiple comparisons. No other significant association was found with clinical outcomes and polymorphisms in the five cytokine genes studied in this population.	Cohort 95 heart transplant paitnets 										
127148		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Cinek, O.  et al. 2004	15170937				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Czech	Czech Republic	CDC GDPinfo	3458	Hs.856			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147570	11884	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
127149	Y	heart failure	CARDIOVASCULAR	CARD	Shock, Cardiogenic|Critical Illness	12	12q14	IFNG	66834816	66839788		Appoloni, O.  et al. 2004	15189946				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Chest. 2004 Jun;125(6):2232-7	Association between the TNF-2 allele and a better survival in cardiogenic shock.		147570	11885	2	2004	 Patients with the TNF-2 allele have no greater risk of cardiogenic shock but a better survival rate when it develops. Different genetic factors appear to influence the risk of development of, and outcome from, cardiogenic shock.	Case:33 adult patients with cardiogenic shock of recent (< 4 h) onset;Control:48 healthy control subjects										
127144	Y	parvovirus	INFECTION	INF	Parvoviridae Infections	12	12q14	IFNG	66834816	66839788		Kerr, J. R.  et al. 2003	14514772				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		147570	11875	2	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127145		kidney transplant complications	IMMUNE	IMM	Acute Disease	12	12q14	IFNG	66834816	66839788		Gu, X. W.  et al. 2003	14625191				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1211-3	Cytokine gene polymorphism in sensitized kidney transplant recipients and its association with acute rejection episodes		147570	11879	2	2003	 TNF-alpha and IL-10 gene polymorphism may significantly influence the incidence of acute rejection episodes in sensitized kidney transplants, for whom determination of TNF-alpha and IL-10 genotype might help design feasible immunosuppressive protocols.	Cohort 97 sensitized kidney transplant recipients 		TNF-alpha		IL-10				Y		sensitized kidney transplant
127146		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Gottenberg, J. E.  et al. 2004	14872501				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Arthritis and rheumatism. 2004 Feb;50(2):570-80	Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome		147570	11880	2	2004	 TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGFbeta1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.	Case:129 French Sjogren's syndrome patients;Control:96 unrelated healthy subjects										
127141		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Otitis Media	12	12q14	IFNG	66834816	66839788		Gentile, D. A.  et al. 2003	12590978				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2003 Mar;64(3):338-44	Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.		147570	11867	2	2003	These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.	Cohort 77 infants hospitalized with confirmed RSV infection 										
127142		diabetes, type 1	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Siekiera, U.  et al. 2002	12818128				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego. 2002 ;8(1):29-34	[Polymorphism of TNF-alpha (308 A/G), IL-10 (1082 A/G, 819 C/T 592 A/C), IL-6 (174 G/C), and IFN-gamma (874 A/T); genetically conditioned cytokine synthesis level in children with diabetes type 1]		147570	11872	2	2002	 It is possible to us molecular method to estimate the genetically controlled immune reactivity. It is a very important immunogenetic factor of the disease predisposition.	Case:36 children with type 1 diabetes;Control:36 healthy individuals										
127143	N	hepatitis C	INFECTION	INF	Hepatitis C	12	12q14	IFNG	66834816	66839788		Barrett, S.  et al. 2003	12938195				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection		147570	11874	2	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive)) 										
127138		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	12	12q14	IFNG	66834816	66839788		Gentile, D. A.  et al. 2003	12507818				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2003 Jan;64(1):93-8	Cytokine gene polymorphisms moderate responses to respiratory syncytial virus in adults.		147570	11863	2	2003	These results suggest that certain cytokine gene polymorphisms moderate immune responses and illness severity in adults experimentally exposed to RSV.	Cohort 29 adults experimentally inoculated with respiratory syncytial virus 										
127139	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	12	12q14	IFNG	66834816	66839788		Ben-Ari, Z.  et al. 2003	12526950				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The American journal of gastroenterology. 2003 Jan;98(1):144-50	Cytokine gene polymorphisms in patients infected with hepatitis B virus.		147570	11864	2	2003	 These findings suggest an association between the genetic ability to produce low levels of IFN-gamma and the susceptibility to develop chronic HBV infection.	Control:10/48 healthy individuals who recovered from HBV infection (n=10) and healthy controls (n=48);Case:77 patients with chronic HBV infection (23 low-level HBV replicative carriers, 23 compensated high-level HBV replicative carriers, 21 decompensated liver transplant candidates, and 10 patients with documented hepatocellular carcinoma)										
127140		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		12	12q14	IFNG	66834816	66839788		De Capei, M. U.  et al. 2003	12558814				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		147570	11865	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
127135		multiple sclerosis	IMMUNE	IMM	Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Gourley, I. S.  et al. 2002	12232842				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Kenya	CDC GDPinfo	3458	Hs.856			The Journal of infectious diseases. 2002 Oct;186(7):1007-12	Profound bias in interferon-gamma and interleukin-6 allele frequencies in western Kenya, where severe malarial anemia is common in children.		147570	11858	2	2002	The cohort displayed a marked bias toward genotypes associated with low expression of IFN-gamma and IL-6, cytokines that, at high levels, have been implicated in malarial anemia and poor malaria outcomes. By contrast, the frequency of the TNF-alpha -238A allele, which has been associated with severe malarial anemia, was found to be similar to the frequency previously reported in comparison populations in Africa and elsewhere. IFN-gamma and IL-6 genotypes may play roles in the development of severe malaria and could contribute to the relative frequency of severe malarial anemia or cerebral malaria in exposed populations.	Cohort young men Western Kenya 										
127136	N	melanoma	CANCER	CAN	Melanoma	12	12q14	IFNG	66834816	66839788		Martinez-Escribano, J. A.  et al. 2002	12394188				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Melanoma research. 2002 Oct;12(5):465-9	Interleukin-10, interleukin-6 and interferon-gamma gene polymorphisms in melanoma patients		147570	11860	2	2002	These data indicate that investigation of polymorphisms in the regulatory regions of IL10, IL6 and INFgamma genes does not seem to be useful for predicting the risk of development of primary cutaneous melanoma. However, IL10 low expression genotypes may be associated with a poorer outcome in melanoma patients.	Case:42 melanoma patients;Control:48 healthy controls										
127137	Y	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans	12	12q14	IFNG	66834816	66839788		Lu, K. C.  et al. 2002	12451269				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2002 Nov;74(9):1297-302	Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation.		147570	11861	2	2002	 The presence of high-expression polymorphisms at position -174 of the IL-6 gene and position +874 of the IFN-gamma gene significantly increases the risk for BOS development after lung transplantation.	Cohort 93 lung allograft recipients 										
127132		cell-surface B7 expression; cytokine production	UNKNOWN	UNK		12	12q14	IFNG	66834816	66839788		Hutchings, A.  et al. 2002	11906646				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American		CDC GDPinfo	3458	Hs.856			Pediatric transplantation. 2002 Feb;6(1):69-77	Association of cytokine single nucleotide polymorphisms with B7 costimulatory molecules in kidney allograft recipients.		147570	11852	2	2002	These data raise the possibility that specific genotypes are associated with local cytokine regulation of cell-surface costimulatory molecule expression. African-American patients may have a genetically determined, quantitatively different immune response than Caucasian patients, contributing to adverse transplant outcomes.	Cohort African-American and Caucasian renal transplant recipients 										
127133		liver transplantation, immunosuppression after	IMMUNE	IMM	Substance Withdrawal Syndrome	12	12q14	IFNG	66834816	66839788		Mazariegos, G. V.  et al. 2002	11981433				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2002 Apr;73(8):1342-5	Cytokine gene polymorphisms in children successfully withdrawn from immunosuppression after liver transplantation.		147570	11853	2	2002	 Children successfully maintained off immunosuppression are more likely to have a genetic predisposition toward low TNF-alpha and high/intermediate IL-10 production. Children maintained on minimal immunosuppression exhibit a similar cytokine profile to those successfully weaned.	Case:12/7 Pediatric liver transplant recipients who were successfully withdrawn from immunosuppression (n=12) or who are on minimal immunosuppression:(n=7);Control:37 liver recipients who required maintenance:immunosuppression										
127134		leukemia, acute myeloid; longevity; myelodysplasia	CANCER	CAN		12	12q14	IFNG	66834816	66839788		Poli, F.  et al. 2002	12047360				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Italian		CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2002 Jun;29(3):237-40	Allele frequencies of polymorphisms of TNFA, IL-6, IL-10 and IFNG in an Italian Caucasian population.		147570	11855	2	2002	The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.	Cohort 363 healthy Italian Caucasians 										
127129	Y	allograft outcome	IMMUNE	IMM	Hepatitis C|Genetic Predisposition to Disease|Recurrence	12	12q14	IFNG	66834816	66839788		Tambur, A. R.  et al. 2001	11391238				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2001 May;71(10):1475-80	Role of cytokine gene polymorphism in hepatitis C recurrence and allograft rejection among liver transplant recipients.		147570	11849	2	2001	 While no significant correlation was detected between particular cytokine profile and early rejection episodes, our data strongly suggest an association between cytokine gene polymorphism of TGF-beta, IL-10, and INF-gamma and recurrence of hepatitis C in LTx recipients.	Control:49 healthy Caucasian individuals;Case:68 liver transplant recipients										
127130		allograft outcome	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Awad, M. R.  et al. 2001	11404167				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of heart and lung transplantation. 2001 Jun;20(6):625-30	The effect of cytokine gene polymorphisms on pediatric heart allograft outcome.		147570	11850	2	2001	 Genetic polymorphisms that have been associated with low TNF-alpha and high IL-10 production are associated with a lower number of acute rejection episodes after pediatric heart transplantation.	Control:29 heart donors;Case:93 pediatric heart transplant recipients										
127131		renal allograft outcome	UNKNOWN	UNK	Acute Disease	12	12q14	IFNG	66834816	66839788		Hahn, A. B.  et al. 2001	11544427				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2001 Aug;72(4):660-5	TNF-alpha, IL-6, IFN-gamma, and IL-10 gene expression polymorphisms and the IL-4 receptor alpha-chain variant Q576R: effects on renalallograft outcome		147570	11851	2	2001	 These data would suggest that the production of high levels of the cytokine TNF-alpha is especially detrimental to graft survival when the recipient's T-helper lymphocytes are being activated by mismatched donor HLA-class II antigens. Typing all potential kidney recipients for TNF-alpha, and providing well-matched organs for high producers of this cytokines, may be expected to increase rejection-free graft survival in these patients.	Cohort 120 transplant patients 										
127125		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Howell, W. M.  et al. 2003	14675394				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		147570	11810	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
127127		graft-vs-host disease	IMMUNE	IMM	Graft vs Host Disease	12	12q14	IFNG	66834816	66839788		Tambur, A. R.  et al. 2001	11266928				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):502-3	Cytokine gene polymorphism in patients with graft-versus-host disease.		147570	11847	2	2001	In view of these data, and other recent reports in the literature, the role of TGF-beta in manipulating immune response should be reassessed.	Case:24 bone marrow transplant recipients:1996-1999;Control:43 healthy controls										
127128	N	renal transplantation, protein secretion in	UNKNOWN	UNK	Acute Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Cartwright, N. H.  et al. 2001	11316066				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplant immunology. 2001 Feb;8(4):237-44	A study of cytokine gene polymorphisms and protein secretion in renal transplantation.		147570	11848	2	2001	In addition, no correlation was demonstrated between cytokine gene polymorphisms and renal allograft rejection.	Control:30 normal controls;Case:49 renal transplant patient-donor pairs										
127122		kidney transplant complications	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		McDaniel, D. O.  et al. 2003	12727482				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American		CDC GDPinfo	3458	Hs.856			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		147570	11806	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
127123	N	heart transplant complications	OTHER	OTH	Vascular Diseases	12	12q14	IFNG	66834816	66839788		Holweg, C. T.  et al. 2003	12727483				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplant immunology. 2003 Jan-Mar;11(1):121-7	Recipient gene polymorphisms in the Th-1 cytokines IL-2 and IFN-gamma in relation to acute rejection and graft vascular disease after clinical heart transplantation		147570	11807	2	2003	In conclusion, we did not detect an association between the IL-2 T-330G promoter polymorphism and CA repeat polymorphism in the first intron of the IFN-gamma gene and AR or GVD after heart transplantation.	Cohort 301 heart transplant recipients 										
127124		hepatitis C; longevity	INFECTION	INF		12	12q14	IFNG	66834816	66839788		Pyo, C. W.  et al. 2003	14522096				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Korean		CDC GDPinfo	3458	Hs.856			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147570	11809	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
127118		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Santiago, J. L.  et al. 2005	16216674				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Spanish	Spain	CDC GDPinfo	3458	Hs.856			Human immunology. 2005 Aug;66(8):897-902	Th1 cytokine polymorphisms in spanish patients with type 1 diabetes.		147570	11682	2	2005												
127119		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Gastritis, Atrophic|Metaplasia	12	12q14	IFNG	66834816	66839788		Rad, R.  et al. 2004	15247172				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Gut. 2004 Aug;53(8):1082-9	Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and host specific colonisation during Helicobacter pylori infection.		147570	11775	2	2004	 Cytokine gene polymorphisms influence mucosal cytokine expression, gastric inflammation, and the long term development of precancerous lesions in H pylori infection. Host polymorphisms are associated with certain bacterial strain types, suggesting host specific colonisation or adaptation. These findings contribute to the understanding of the complex interplay between host and bacterial factors involved in the development of gastric pathology.	Cohort 207 H pylori infected patients with chronic gastritis 										
127121		longevity	AGING	AGE		12	12q14	IFNG	66834816	66839788		Ross, O. A.  et al. 2003	12633940				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Irish		CDC GDPinfo	3458	Hs.856			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		147570	11804	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
127114		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Lio, D.  et al. 2005	15979955				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Digestive and liver disease. 2005 Oct;37(10):756-60	TNFalpha, IFNgamma and IL-10 gene polymorphisms in a sample of Sicilian patients with coeliac disease.		147570	11649	2	2005	 Genetically determined higher frequencies of -308A tumour necrosis factor alpha and +874T interferon gamma alleles, both in hetero and in homozygosis and mostly whether simultaneous, may play a role in predisposing to gluten intolerance. Subjects positive for -308A tumour necrosis factor alpha and +874T interferon gamma alleles have an increased risk for coeliac disease.											
127116		celiac disease	IMMUNE	IMM	Celiac Disease|Down Syndrome|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Cataldo, F.  et al. 2005	16182624				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Digestive and liver disease. 2005 Dec;37(12):923-7	Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.		147570	11652	2	2005	 Single nucleotide polymorphisms of IFNgamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFalpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.											
127117		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Zhu, Q. R.  et al. 2005	16232344				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Chinese medical journal. 2005 Oct;118(19):1604-9	Relationship between cytokines gene polymorphism and susceptibility to hepatitis B virus intrauterine infection.		147570	11653	2	2005	 This study suggested the possibility that the TNF-alpha -238 A allele and IFN-gamma +874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4 -590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10 -1082 G allele was associated with preventive efficacy to HBV intrauterine infection.											
127110		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Cantor, M. J.  et al. 2005	15842590				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The American journal of gastroenterology. 2005 May;100(5):1134-42	The role of cytokine gene polymorphisms in determining disease susceptibility and phenotype in inflammatory bowel disease.		147570	11642	2	2005	 The cytokine gene polymorphisms studied here do not appear to influence IBD susceptibility. There does, however, appear to be an influence on disease phenotype, particularly on CD site.	Case:193 IBD patients (Crohn's disease (n=138) and ulcerative colitis (n=55));Control:92:controls										
127111		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Autoimmune Diseases|Graft vs Host Disease	12	12q14	IFNG	66834816	66839788		Wu, J. M.  et al. 2005	15931634				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Biology of blood and marrow transplantation. 2005 Jun;11(6):455-64	The effects of interleukin 10 and interferon gamma cytokine gene polymorphisms on survival after autologous bone marrow transplantation for patients with breast cancer.		147570	11645	2	2005	Inheritance of specific alleles that modify IL-10 and IFN-gamma production may have unexpected effects on the efficacy of immune-based strategies after autologous BMT. Additional studies are necessary to further define the influence of IL-10 and IFN-gamma on the immune response after BMT.	Cohort 87 women enrolled in 3 autologous BMT (plus induction of autologous GVHD) clinical trials 										
127112		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	12	12q14	IFNG	66834816	66839788		Amirzargar, A. A.  et al. 2005	15932621				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Iranian		CDC GDPinfo	3458	Hs.856			International journal of immunogenetics. 2005 Jun;32(3):167-71	Cytokine gene polymorphism in Iranian patients with chronic myelogenous leukaemia.		147570	11646	2	2005	The results suggest that production of TGF-beta in CML patients is higher and production of IL-4 and IL-10 is lower than in normal subjects.	Case:30 Iranian patients with chronic myelogenous leukemia;Control:40 healthy subjects										
127107	N	cardiomyopathy; heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Diseases|Disease Progression	12	12q14	IFNG	66834816	66839788		Webber, S. A.  et al. 2002	15773449				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cardiology in the young. 2002 Oct;12(5):461-4	Polymorphisms in cytokine genes do not predict progression to end-stage heart failure in children.		147570	11639	2	2002	 No evidence is found to support the hypothesis that these polymorphisms for cytokine genes influence progression to end-stage heart failure in children undergoing transplantation because of cardiomyopathy or congenital heart disease.	Cohort 94 heart transplanted children 										
127108		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Kamali-Sarvestani, E.  et al. 2005	15811521				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Iranian	Iran	CDC GDPinfo	3458	Hs.856			Journal of reproductive immunology. 2005 Apr;65(2):171-8	Cytokine gene polymorphisms and susceptibility to recurrent pregnancy loss in Iranian women.		147570	11640	2	2005	It may be concluded that IL-10 polymorphism at position -592 could be a genetic factor for RPL.	Case:139 women with recurrent pregnancy loss:Iran;Control:143 contol women										
127109		kidney transplant	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Tinckam, K.  et al. 2005	15818327				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2005 Apr;79(7):836-41	The relative importance of cytokine gene polymorphisms in the development of early and late acute rejection and six-month renal allograft pathology.		147570	11641	2	2005	 High transforming growth factor-beta1 producer phenotype seems to be protective against acute inflammation, whereas H and I interferon-gamma, TNFalpha, and interleukin-10 producer genotypes correlate with adverse outcomes. Cytokine genotyping identifies individuals who may benefit from more intensive surveillance and treatment posttransplant.	Cohort 118 renal transplant recipients 										
127104		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Alcoholism	12	12q14	IFNG	66834816	66839788		Schneider, A.  et al. 2004	15066699				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Alcohol (Fayetteville, NY). 2004 Jan;32(1):19-24	Analysis of tumor necrosis factor-alpha, transforming growth factor-beta 1, interleukin-10, and interferon-gamma polymorphisms in patients with alcoholic chronic pancreatitis.		147570	11632	2	2004	We did not find an association between the different genotypes and the clinical course of the disease. Therefore, we assume that these genetic variants do not play a dominant role in alcoholic chronic pancreatitis.	Case:42 patients with alcoholic chronic pancreatitis;Control:94/73 control subjects for the TNF polymorphism (n=94) and for the other polymorphisms (n=73)										
127105	N	liver disease; hepatitis C, chronic	OTHER	OTH	Hepatitis C, Chronic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Abbott, W. G.  et al. 2004	15078471				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Liver international. 2004 Apr;24(2):90-7	Single nucleotide polymorphisms in the interferon-gamma and interleukin-10 genes do not influence chronic hepatitis C severity or T-cell reactivity to hepatitis C virus		147570	11633	2	2004	 Future studies investigating the entire cytokine gene sequences will provide better information regarding genetic variations responsible for inter-individual differences in the severity of CH-C.	Cohort 116 consecutive patients with chronic hepatitis C 										
127106		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease|Fibrosis|Inflammation	12	12q14	IFNG	66834816	66839788		Schneider, A.  et al. 2004	15316224				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Pancreatology. 2004 ;4(6):490-4	Transforming growth factor-beta1, interleukin-10 and interferon-gamma cytokine polymorphisms in patients with hereditary, familial and sporadic chronic pancreatitis.		147570	11636	2	2004	 These genetic variants do not play a dominant role in hereditary, familial or sporadic chronic pancreatitis.	Control:73:controls;Case:78/62 patients with hereditary and familial pancreatitis (n=78) and patients with sporadic pancreatitis (n=62) that were tested negative for cationic trypsinogen gene mutations										
127100		pregnancy loss, recurrent	OTHER	OTH	Abortion, Habitual	12	12q14	IFNG	66834816	66839788		Daher, S.  et al. 2003	12609526				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Brazil	CDC GDPinfo	3458	Hs.856			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		147570	11625	2	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregnancy loss patients										
127102	Y	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Bravo, M. J.  et al. 2003	14675398				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2003 Dec;30(6):433-5	Polymorphisms of the interferon gamma and interleukin 10 genes in human brucellosis.		147570	11629	2	2003	Persons who are homozygous for the IFNG +874A allele may have a higher risk of contracting brucellosis.	Control:101:controls;Case:83 patients with brucellosis										
127103	N	Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Inflammation	12	12q14	IFNG	66834816	66839788		Munro, L. R.  et al. 2003	14959851				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Leukemia & lymphoma. 2003 Dec;44(12):2083-8	Polymorphisms in the interleukin-10 and interferon gamma genes in Hodgkin lymphoma		147570	11631	2	2003	We found little evidence IL-10 and IFNgamma genotypes predispose to the development of HL or influence the inflammatory host response.	Cohort 147 cases of Hodgkin lymphoma 										
127097		psoriasis	IMMUNE	IMM	Psoriasis	12	12q14	IFNG	66834816	66839788		Craven, N. M.  et al. 2001	11298547				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The British journal of dermatology. 2001 Apr;144(4):849-53	Cytokine gene polymorphisms in psoriasis.		147570	11617	2	2001	 Psoriasis is not determined by a genotype consistent with high production of Th1 cytokines or low production of Th2 cytokines. Thus, the Th1 cytokine profile found in psoriatic plaques is most likely a consequence of local factors.	Control data on file;Case:84 patients with psoriasis										
127098	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Tegoshi, H.  et al. 2002	11821159	(-592A/C)		promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	CDC GDPinfo	3458	Hs.856			Human immunology. 2002 Feb;63(2):121-8	Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes.		147570	11619	2	2002	These results suggest that the IFNG CA-repeat and the IL-10-592A/C polymorphisms are not strong determinants of susceptibility to the development of type I diabetes in Japanese individuals. However, both the IFNG CA-repeat and the IL-10-592A/C polymorphisms are associated with clinical heterogeneity in type I diabetes.	Control:160 healthy controls subjects;Case:207 Japanese type I diabetic patients										
127099	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Lopez-Maderuelo, D.  et al. 2003	12531774				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			American journal of respiratory and critical care medicine. 2003 Apr;167(7):970-5	Interferon-gamma and interleukin-10 gene polymorphisms in pulmonary tuberculosis.		147570	11624	2	2003	Thus, a genetic defect in the production of interferon-gamma in individuals who were homozygous for the (+874) A allele could contribute to their increased risk of developing tuberculosis.	Case:113 Spanish patients with culture-proven pulmonary:tuberculosis;Control:207/100 healthy close contacts (n=207, 125 tuberculin reactive and 82 tuberculin-negative) and healthy tuberculin-negative controls (n=100 )										
127093		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	12	12q14	IFNG	66834816	66839788		Dai, C. Y.  et al. 2005	16051377				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Antiviral research. 2005 Aug;67(2):93-7	Polymorphisms in the interferon-gamma gene at position +874 in patients with chronic hepatitis C treated with high-dose interferon-alpha and ribavirin.		147570	11568	2	2005			interferon ribavirin									
127094		hepatitis B	INFECTION	INF	Hepatitis B	12	12q14	IFNG	66834816	66839788		Qi, S.  et al. 2005	16302211			promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Chinese		CDC GDPinfo	3458	Hs.856			Journal of clinical laboratory analysis. 2005 ;19(6):276-81	Association of the -183 polymorphism in the IFN-gamma gene promoter with hepatitis B virus infection in the Chinese population.		147570	11569	2	2005												
127095		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Postoperative Complications	12	12q14	IFNG	66834816	66839788		Tiroch, K.  et al. 2005	16115485				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Atherosclerosis. 2005 Sep;182(1):145-51	Interferon-gamma and interferon-gamma receptor 1 and 2 gene polymorphisms and restenosis following coronary stenting.		147570	11578	2	2005												
127096	Y	renal transplant	RENAL	REN	Acute Disease	12	12q14	IFNG	66834816	66839788		Asderakis, A.  et al. 2001	11292301				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2001 Mar;71(5):674-7	Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokineeffect on transplantation.		147570	11616	2	2001	 In this study we have shown that high producer genotype for IFN-gamma may have an influence on acute rejection of kidney transplants, particularly in patients on cyclosporine monotherapy. It is also associated with worse long-term graft function. On the contrary high IL-10 production may have a long-term protective effect.	Cohort 88 of 115 consecutive cadaveric renal transplants 	antithymocyte globulin therapy									
127089	Y	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q14	IFNG	66834816	66839788		Saha, A.  et al. 2005	15900487			intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Immunogenetics. 2005 May;57(4-Mar):165-71	Functional IFNG polymorphism in intron 1 in association with an increased risk to promote sporadic breast cancer.		147570	11564	2	2005	The study concludes that such genetic background for a proposed non-specific enhancer element with (CA)(n) repeat within intron 1 of the IFNG gene might put the individuals with this genotype at higher risk to promote the development of sporadic breast cancer due to a resultant compromised immune surveillance.	Control:144 healthy controls;Case:54 sporadic breast cancer patiens										
127091	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q14	IFNG	66834816	66839788		Tsiavou, A.  et al. 2005	15935691				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Cytokine. 2005 Jul;31(2):135-41	Correlation between intracellular interferon-gamma (IFN-gamma) production by CD4+ and CD8+ lymphocytes and IFN-gamma gene polymorphism in patients with type 2 diabetes mellitus and latent autoimmune diabetes of adults (LADA).		147570	11566	2	2005	The results of this study indicate that IFN-gamma may contribute to the development of type 2 diabetes, based on a combination of molecular and immunological observations.	Control:controls;Case type 2 diabetics										
127092		atopy	IMMUNE	IMM	Drug Hypersensitivity	12	12q14	IFNG	66834816	66839788		Qiao, H. L.  et al. 2005	15969687				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Allergy. 2005 Aug;60(8):1053-9	Relationships between specific serum IgE, cytokines and polymorphisms in the IL-4, IL-4Ralpha in patients with penicillins allergy.		147570	11567	2	2005	 These data suggest that IL-4, IL-13 and IFN-gamma play an important roles in penicillins allergy. The IL-4RalphaQ576R polymorphism may involve in the development of penicillins allergy, and through modulating specific serum IgE levels.		penicillin									
127086	Y	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q14	IFNG	66834816	66839788		Saha, A.  et al. 2005	15900487			intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Immunogenetics. 2005 May;57(4-Mar):165-71	Functional IFNG polymorphism in intron 1 in association with an increased risk to promote sporadic breast cancer.		147570	11561	2	2005	The study concludes that such genetic background for a proposed non-specific enhancer element with (CA)(n) repeat within intron 1 of the IFNG gene might put the individuals with this genotype at higher risk to promote the development of sporadic breast cancer due to a resultant compromised immune surveillance.	Control:144 helthy controls;Case:54 sporadic breast cancer cases										
127087	Y	tryptophan catabolism	UNKNOWN	UNK		12	12q14	IFNG	66834816	66839788		Raitala, A.  et al. 2005	15853924	(+874T-->A)			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Scandinavian journal of immunology. 2005 Apr;61(4):387-90	Association of interferon-gamma +874(T/A) single nucleotide polymorphism with the rate of tryptophan catabolism in healthy individuals.		147570	11562	2	2005	These data show that trp catabolism is genetically controlled by the IFN-gamma gene and may thus be operative in those disease conditions associated with the polymorphisms of the IFN-gamma gene.	Cohort 309 healthy blood donors 										
127088	Y	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q14	IFNG	66834816	66839788		Kamali-Sarvestani, E.  et al. 2005	15890243				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Iranian		CDC GDPinfo	3458	Hs.856			Cancer letters. 2005 Jun;223(1):113-9	Polymorphism in the genes of alpha and beta tumor necrosis factors (TNF-alpha and TNF-beta) and gamma interferon (IFN-gamma) among Iranian women with breast cancer.		147570	11563	2	2005	There were no differences in the TNF-alpha and TNF-beta alleles and genotypes frequencies between breast cancer patients (n=223) and control subjects (n=267). The correlations between TNFA or TNFB alleles or genotypes and clinicopathological indices were also insignificant. However, the frequency of IFN-gamma+874 T/T genotype was significantly higher in breast cancer patients compared to those of controls (P<0.002; OR=2.03, 95% CI=1.28-3.2) which indicates that Iranian women carrying the IFN-gamma+874 T/T genotype may be exposed to an increased risk of breast cancer development.	Case:223 breast cancer patients:Iran;Control:267:controls										
127083	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Kantarci, O. H.  et al. 2005	15674394				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Genes and immunity. 2005 Mar;6(2):153-61	IFNG polymorphisms are associated with gender differences in susceptibility to multiple sclerosis		147570	11557	2	2005	Polymorphisms of IFNG may contribute to differences in susceptibility to MS between men and women.	Case hospital based multiple sclerosis patients Northern Ireland and Belgium;Control controls for hospital based patients;Control ethnically matched controls (matched to US multiple sclerosis patients;Case population based multiple sclerosis patients:US										
127084	Y	giant cell arteritis; polymyalgia rheumatica	CARDIOVASCULAR	CARD	Polymyalgia Rheumatica|Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Gonzalez-Gay, M. A.  et al. 2004	15675129				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Clinical and experimental rheumatology. 2004 ;22(6 Suppl 36):S18-20	Interferon-gamma gene microsatellite polymorphisms in patients with biopsy-proven giant cell arteritis and isolated polymyalgia rheumatica		147570	11558	2	2004	 In GCA, IFN-gamma functional polymorphisms are associated with clinical manifestations of severity rather than susceptibility to this vasculitis.	Control:129 ethnically matched controls;Case:79/59 patients with isolated polymyalgia rheumatica (n=79) and biopsy proven giant cell arteritis:(n=59):Lugo, Spain										
127085	N	Alzheimer's Disease	NEUROLOGICAL	NEUR		12	12q14	IFNG	66834816	66839788		Galimberti, L.  et al. 2004	15679925	(+874T-->A)			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Immunity & ageing [electronic resource] : I & A. 2004 Nov;1(1):6	+874(T-->A) single nucleotide gene polymorphism does not represent a risk factor for Alzheimer's disease		147570	11559	2	2004	The data obtained from the +874T-->A IFN-gamma gene polymorphism analysis of AD patients and HC lack of any statistically significant differences also when stratified according to gender. In conclusion these results confirm the previous shown lack of association between +874T-->A IFN-gamma gene polymorphism and the risk of AD. However, other polymorphisms have been demonstrated to influence IFN-gamma transcription and since natural killer cells of AD patients show higher production of the cytokine, further analysis will be necessary to clarify the role of this gene in the pathogenesis of the disease.	Case:115 Alzheimer's disease patients (70 women, 45 men, mean age 80) a northern Italy;Control:90 sex and age-matched healthy controls (HC, 51 women, 39 men, mean age 82)										
127079	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Kitawaki, J.  et al. 2004	15166131			promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	CDC GDPinfo	3458	Hs.856			Human reproduction (Oxford, England). 2004 Aug;19(8):1765-9	Interferon-{gamma} gene dinucleotide (CA) repeat and interleukin-4 promoter region (-590C/T) polymorphisms in Japanese patients with endometriosis		147570	11553	2	2004	 The results suggest that the IFNG CA-repeat polymorphism is associated with susceptibility to endometriosis in a Japanese population.	Control:176 healthy fertile women;Case:185 patients with endometriosis										
127080	Y	hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Yu, H.  et al. 2004	15265425	(+874T-->A)			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Zhonghua er ke za zhi Chinese journal of pediatrics. 2004 Jun;42(6):421-3	[Association of interferon-gamma + 874 gene single nucleotide polymorphism with susceptibility to intrauterine HBV infection]		147570	11554	2	2004	 There is an association between IFN-gamma + 874 SNP and intrauterine HBV infection. This study suggested the possibility that IFN-gamma + 874 SNP might be important in determining an individual's susceptibility to development of intrauterine HBV infection.	Case:46 children with intrauterine HBV infection;Control:73 normal children										
127082		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	12	12q14	IFNG	66834816	66839788		Halma, M. A.  et al. 2004	15556691				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Human immunology. 2004 Nov;65(11):1405-8	Interferon-gamma polymorphisms correlate with duration of survival in pancreatic cancer.		147570	11556	2	2004	We therefore propose that the presence of allele 2 may be a useful marker for patient outcome.	Cohort individuals with advanced pancreatic cancer 										
127076		oral lichen planus	INFECTION	INF	Lichen Planus, Oral|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Carrozzo, M.  et al. 2004	14962095				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of investigative dermatology. 2004 Jan;122(1):87-94	Tumor necrosis factor-alpha and interferon-gamma polymorphisms contribute to susceptibility to oral lichen planus		147570	11550	2	2004	In conclusion, we suggest that genetic polymorphism of the first intron of the promoter gene of IFN-gamma may be an important risk factor to develop oral lesions of LP, whereas an increase in the frequency of -308A TNF-alpha allele may best contribute to the development of additional skin involvement.	Case oral lichen planus patients;Control:controls										
127077	N	coronary vasculopathy	CARDIOVASCULAR	CARD	Coronary Disease|Postoperative Complications	12	12q14	IFNG	66834816	66839788		Densem, C. G.  et al. 2004	14992891				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Annals of thoracic surgery. 2004 Mar;77(3):875-80	Influence of IFN-gamma polymorphism on the development of coronary vasculopathy after cardiac transplantation.		147570	11551	2	2004	 Dinucleotide repeat polymorphism in the first intron of the human IFN-gamma gene does not influence CV development and cannot be used as a genetic risk marker.	Cohort 144/134 cardiac transplant recipients (n=144) and donors (n=134) 										
127078		Graves' disease	IMMUNE	IMM	Graves Disease	12	12q14	IFNG	66834816	66839788		Fukutani, T.  et al. 2004	15068623				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese		CDC GDPinfo	3458	Hs.856			Thyroid. 2004 Feb;14(2):93-7	A polymorphism of interferon-gamma gene associated with changes of anti-thyrotropin receptor antibodies induced by antithyroid drug treatment for Graves' disease in Japanese patients		147570	11552	2	2004	In conclusions, the CA repeat polymorphism of the IFN-gamma gene might be associated with the outcome of anti-thyroid drug treatment.	Control:133 healthy control subjects without antithyroid autoantibodies or family history of autoimmune:disorders;Case:162 Japanese patients with Graves' disease										
127073	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Vandenbroeck, K.  et al. 2003	14558082				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Arthritis and rheumatism. 2003 Oct;48(10):2773-8	Polymorphisms in the interferon-gamma/interleukin-26 gene region contribute to sex bias in susceptibility to rheumatoid arthritis.		147570	11547	2	2003	 Our results demonstrate that common polymorphisms in the IFNgamma/IL-26 gene region may contribute to sex bias in susceptibility to RA, by distorting the propensity of female carriers versus male carriers to contract this disease. These results conform to our recent observations of a role for this gene cluster in sex-based differential susceptibility to another Th1-type inflammatory disease, multiple sclerosis.	Control:198 unrelated healthy controls;Case:251 patients with rheumatoid arthritis Northern Ireland										
127074	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q14	IFNG	66834816	66839788		Scola, L.  et al. 2003	14661818	(+874T-->A)		intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Aging clinical and experimental research. 2003 Aug;15(4):292-5	Allele frequencies of +874T --> A single nucleotide polymorphism at the first intron of IFN-gamma gene in Alzheimer's disease patients.		147570	11548	2	2003	 Our study does not support the hypothesis that IFN-gamma SNP may be a genetic risk factor for AD. Further analysis of recently described IFN-gamma polymorphisms may clarify the role, if any, of IFN-gamma alleles in AD.	Case:111 Alzheimer's disease patients;Control:213 healthy controls										
127075	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q14	IFNG	66834816	66839788		Oda, M.  et al. 2004	14681912				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):48-9	Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.		147570	11549	2	2004	We conclude that  IFNG gene polymorphism is not associated with development of AD.	Case:199 Japanese Alzheimer's disease patients;Control:225 Japanese controls										
127070		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	12	12q14	IFNG	66834816	66839788		Lio, D.  et al. 2002	12358843	(+874T-->A)		intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Sicily	CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2002 Oct;29(5):371-4	Genotype frequencies of the +874T-->A single nucleotide polymorphism in the first intron of the interferon-gamma gene in a sample of Sicilian patients affected by tuberculosis		147570	11544	2	2002	In conclusion, the present data add another piece of evidence to the complex puzzle of genetic and environmental factors involved in control of infectious diseases. Studies on cytokine gene polymorphisms may elucidate the complex network of trans-interactive genes influencing the type and strength of responses to environmental stressors and may help to identify the genetic factors that affect survival in humans.	Case:45 tuberculosis patients;Control:97 healthy controls										
127071	Y	nephropathy	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic|Disease Progression	12	12q14	IFNG	66834816	66839788		Masutani, K.  et al. 2003	12552499				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	CDC GDPinfo	3458	Hs.856			American journal of kidney diseases. 2003 Feb;41(2):371-9	Impact of interferon-gamma and interleukin-4 gene polymorphisms on development and progression of IgA nephropathy in Japanese patients		147570	11545	2	2003	 Our results suggest that IFN-gamma and IL-4 gene polymorphisms could influence disease susceptibility and disease progression in IgA nephropathy in Japanese patients. Am J Kidney Dis 41:371-379.	Control:61 healthy controls;Case:96 Japanese patients with biopsy confirmed IgA:nephropathy										
127072	N	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Latsi, P.  et al. 2003	12914676	G5644A			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Respiratory research. 2003 ;4(1):6	Analysis of IL-12 p40 subunit gene and IFN-gamma G5644A polymorphisms in Idiopathic Pulmonary Fibrosis		147570	11546	2	2003	 We conclude that these two potentially important candidate gene single nucleotide polymorphisms are not associated with susceptibility to IPF.	Control:157 healthy controls;Case:73 patients with idiopathic pulmonary fibrosis										
127066		oral lichen planus	INFECTION	INF		12	12q14	IFNG	66834816	66839788		Chevillard, C.  et al. 2002	11841489			promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			European journal of immunogenetics. 2002 Feb;29(1):53-6	Two new polymorphisms in the human interferon gamma (IFN-gamma) promoter.		147570	11540	2	2002	These two polymorphisms have not been detected in the Centre d'Etude du Polymorphisme Humain (CEPH) reference population.	Cohort Centre d'Etude du Polymorphisme Humain (CEPH) reference population 										
127067	Y	angiomyolipomas, renal	CANCER	CAN	Tuberous Sclerosis|Angiomyolipoma|Kidney Diseases	12	12q14	IFNG	66834816	66839788		Dabora, S. L.  et al. 2002	12192641				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			American journal of human genetics. 2002 Oct;71(4):750-8	Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients		147570	11541	2	2002	Although these results should be replicated in other populations with TSC, the present study suggests that modifier genes play a role in the variable expression of TSC and also suggests a potential therapy for KAMLs in patients with TSC.	Cohort 46 angiomyolipoma probands for whom parent and/or sibling samples were available for analysis 										
127068		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Nagarkatti, R.  et al. 2002	12209087				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Indian	India	CDC GDPinfo	3458	Hs.856			The Journal of allergy and clinical immunology. 2002 Sep;110(3):410-2	Association of IFNG gene polymorphism with asthma in the Indian population.		147570	11542	2	2002	This is the first report on the association of a candidate gene with asthma from the Indian subcontinent.	Case North Indian asthmatic patients:India;Control:controls										
127063	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Lee, J. Y.  et al. 2001	11528517				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Baltimore|Philadelphia	CDC GDPinfo	3458	Hs.856			Genes and immunity. 2001 Aug;2(5):254-7	Interferon-gamma polymorphisms in systemic lupus erythematosus.		147570	11537	2	2001	This suggests that genetic variation in interferon-gamma expression might influence the disease course.	Case:136 patients with systemic lupus erythematosus;Control:99 controls, not otherwise specified in abstract										
127064	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Constantin, A.  et al. 2001	11755617				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Lancet. 2001 Dec;358(9298):2051-2	Interferon gamma gene polymorphism and susceptibility to, and severity of, rheumatoid arthritis.		147570	11538	2	2001	We have failed to confirm the association between the IFN-gamma gene polymorphism and rheumatoid arthritis susceptibility or severity.	Case:103 patients with early rheumatoid arthritis;Control:130 controls not otherwise specified										
127065		longevity	AGING	AGE		12	12q14	IFNG	66834816	66839788		Lio, D.  et al. 2002	11772518	(+874T-->A)		intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Italian		CDC GDPinfo	3458	Hs.856			Experimental gerontology. 2002 Jan-Mar;37(3-Feb):315-9	Allele frequencies of +874T-->A single nucleotide polymorphism at the first intron of interferon-gamma gene in a group of Italian centenarians.		147570	11539	2	2002	Thus, studies on cytokine gene polymorphisms may promise to individuate a complex network of trans-interactive genes able to influence the type and strength of responses to environmental stressors and as a final result, thereby conditioning individual life expectancy.	Case:174 Italian centenarians (>99 years old, 142 women and 32 men):Italy;Control:248 <60-year-old control subjects (90 women and 158 men) matched for geographical distribution										
127058	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Tegoshi H 2004	11821159				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	Y Wang	3458	Hs.856			Human immunology. 2002 Feb;63(2):121-8	Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes.		147570	3408	1	2004	These results suggest that the IFNG CA-repeat and the IL-10-592A/C polymorphisms are not strong determinants of susceptibility to the development of type I diabetes in Japanese individuals. However, both the IFNG CA-repeat and the IL-10-592A/C polymorphisms are associated with clinical heterogeneity in type I diabetes.	Control:160 healthy controls subjects;Case:207 Japanese type I diabetic patients										
127059	N	coronary vasculopathy	CARDIOVASCULAR	CARD	Coronary Disease|Postoperative Complications	12	12q14	IFNG	66834816	66839788		Densem CG 2004	14992891				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			The Annals of thoracic surgery. 2004 Mar;77(3):875-80	Influence of IFN-gamma polymorphism on the development of coronary vasculopathy after cardiac transplantation.		147570	3409	1	2004	 Dinucleotide repeat polymorphism in the first intron of the human IFN-gamma gene does not influence CV development and cannot be used as a genetic risk marker.	Cohort 144/134 cardiac transplant recipients (n=144) and donors (n=134)										
127060		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Matsumoto C 2004	7983810				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	Y Wang	3458	Hs.856			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2758-61	Non-MHC susceptibility genes in Japanese subjects with insulin-dependent diabetes mellitus (IDDM)]		147570	3410	1	2004												
127055	N	hepatitis C infection	INFECTION	INF	Hepatitis C	12	12q14	IFNG	66834816	66839788		Barrett S 2003	12938195				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection.		147570	3405	1	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive))										
127056		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q14	IFNG	66834816	66839788		Pociot F 2004	9058314				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Danish Caucasoid and Finnish	Finland|Denmark	Y Wang	3458	Hs.856			Journal of interferon & cytokine research. 1997 Feb;17(2):87-93	Analysis of an interferon-gamma gene (IFNG) polymorphism in Danish and Finnish insulin-dependent diabetes mellitus (IDDM) patients and control subjects. Danish Study Group of Diabetes in Childhood.		147570	3406	1	2004												
127057	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Tegoshi H 2004	11821159				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	Y Wang	3458	Hs.856			Human immunology. 2002 Feb;63(2):121-8	Polymorphisms of interferon-gamma gene CA-repeat and interleukin-10 promoter region (-592A/C) in Japanese type I diabetes.		147570	3407	1	2004	These results suggest that the IFNG CA-repeat and the IL-10-592A/C polymorphisms are not strong determinants of susceptibility to the development of type I diabetes in Japanese individuals. However, both the IFNG CA-repeat and the IL-10-592A/C polymorphisms are associated with clinical heterogeneity in type I diabetes.	Control:160 healthy controls subjects;Case:207 Japanese type I diabetic patients										
127052	Y	kidney angiomyolipomas	CANCER	CAN	Tuberous Sclerosis|Angiomyolipoma|Kidney Diseases	12	12q14	IFNG	66834816	66839788		Dabora SL et al. 2002	12192641				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			American journal of human genetics. 2002 Oct;71(4):750-8	Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.		147570	3402	1	2002	Although these results should be replicated in other populations with TSC, the present study suggests that modifier genes play a role in the variable expression of TSC and also suggests a potential therapy for KAMLs in patients with TSC.	Cohort 46 angiomyolipoma probands for whom parent and/or sibling samples were available for analysis										
127053	Y	atopic asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788	P=0.0018	Nakao F 2001	11240951	CA repeat in Intron 1			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KCB	3458	Hs.856			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147570	3403	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population										
127054	Y	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	12	12q14	IFNG	66834816	66839788	0.04	Kerr JR 2003	14514772	874			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		147570	3404	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
127048		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q14	IFNG	66834816	66839788		Vandenbroeck K et al. 1998	9818947				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Italy	KGB	3458	Hs.856			Annals of neurology. 1998 Nov;44(5):841-2	Interferon-gamma gene polymorphism-associated risk for multiple sclerosis in Sardinia.		147570	3398	1	1998												
127049	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q14	IFNG	66834816	66839788		Jahromi M et al. 2000	10714554				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Journal of interferon & cytokine research. 2000 Feb;20(2):187-90	A CA repeat polymorphism of the IFN-gamma gene is associated with susceptibility to type 1 diabetes.		147570	3399	1	2000												
127050	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Rossouw M et al. 2003	12788577				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		South Africa	KGB	3458	Hs.856			Lancet. 2003 May;361(9372):1871-2	Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene.		147570	3400	1	2003	This preferential binding suggests that genetically determined variability in interferon gamma and expression might be important for the development of tuberculosis.	Control:controls;Case:313 tuberculosis cases										
127051		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q14	IFNG	66834816	66839788		Goris A et al. 1999	10505747				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Europe	Germany|Italy|Sweden	KGB	3458	Hs.856			Journal of interferon & cytokine research. 1999 Sep;19(9):1037-46	Analysis of an IFN-gamma gene (IFNG) polymorphism in multiple sclerosis in Europe: effect of population structure on association with disease.		147570	3401	1	1999												
127044	Y	SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788	P=0.013	Ober C 2000	11022011	CA repeat in Intron 1			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Hutterites	South Dakota	KGB	3458	Hs.856			American journal of human genetics. 2000 Nov;67(5):1154-62			147570	3394	1	2000												
127045	Y	lung allograft fibrosis	OTHER	OTH	Pulmonary Fibrosis	12	12q14	IFNG	66834816	66839788		Awad M et al. 1999	10363726			intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Human immunology. 1999 Apr;60(4):343-6	CA repeat allele polymorphism in the first intron of the human interferon-gamma gene is associated with lung allograft fibrosis.		147570	3395	1	1999												
127046	Y	acute and chronic kidney transplant outcome	RENAL	REN	Acute Disease	12	12q14	IFNG	66834816	66839788		Asderakis A et al. 2001	11292301				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Transplantation. 2001 Mar;71(5):674-7	Association of polymorphisms in the human interferon-gamma and interleukin-10 gene with acute and chronic kidney transplant outcome: the cytokine effect on transplantation.		147570	3396	1	2001	 In this study we have shown that high producer genotype for IFN-gamma may have an influence on acute rejection of kidney transplants, particularly in patients on cyclosporine monotherapy. It is also associated with worse long-term graft function. On the contrary high IL-10 production may have a long-term protective effect.	Cohort 88 of 115 consecutive cadaveric renal transplants	antithymocyte globulin therapy									
127047	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Nagarkatti R et al. 2002	12209087				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Indian	India	KGB	3458	Hs.856			The Journal of allergy and clinical immunology. 2002 Sep;110(3):410-2	Association of IFNG gene polymorphism with asthma in the Indian population.		147570	3397	1	2002	This is the first report on the association of a candidate gene with asthma from the Indian subcontinent.	Case North Indian asthmatic patients:India;Control:controls										
127041	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	12	12q14	IFNG	66834816	66839788	0.039	Awata T 1994	7867888	CA repeat polymorphism within the first intron			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Diabetologia. 1994 Nov;37(11):1159-62			147570	3391	1	1994	These results suggest that the IFN-gamma gene region may contribute to the pathogenesis of IDDM and could be a genetic marker for IDDM.											
127042	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788	n	Nakao 2001	11240951	(CA)n			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KCB	3458	Hs.856			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504			147570	3392	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.											
127043	Y	recurrent pregnancy loss	OTHER	OTH	Abortion, Habitual	12	12q14	IFNG	66834816	66839788	0.04	Daher S	12609526				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Brazil	KEW	3458	Hs.856			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		147570	3393	1	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregn										
127036	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788	0.0001	Khani-Hanjani A 2000	11022930	CA repeat polymorphism within the first intron			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Lancet. 2000 Sep;356(9232):820-5			147570	3386	1	2000	This association may be valuable for understanding the mechanism of disease progression, for predicting the course of the disease, and for guiding therapy.											
127037	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788	0.0018	Nakao F 2001	11240951	CA repeat polymorphism within the first intron			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KCB	3458	Hs.856			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147570	3387	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population										
127038	Y	Grave`s disease	IMMUNE	IMM	Graves Disease	12	12q14	IFNG	66834816	66839788	0.04	Siegmund T 1998	9848715	CA repeat polymorphism within the first intron			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KGB	3458	Hs.856			Thyroid. 1998 Nov;8(11):1013-7			147570	3388	1	1998	Thus, it is likely that the detected microsatellite polymorphisms play only a minor role in the susceptibility to Graves' disease.											
127039	Y	childhood atopic asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12q14	IFNG	66834816	66839788	P=0.0018	Nakao F 2001	11240951	CA repeat in Intron 1			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			KCB	3458	Hs.856			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504	Association of IFN-gamma and IFN regulatory factor 1 polymorphisms with childhood atopic asthma		147570	3389	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.	Cohort Japanese child population										
127032		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	9	9p21	IFNB1	21067103	21067943		Akahoshi, M.  et al. 2004	15004750				Interferon, beta 1, fibroblast	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002176.2		Japan	CDC GDPinfo	3456	Hs.93177			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		147640	22319	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127033		bone density	METABOLIC	MET	Osteoporosis	9	9p21	IFNB1	21067103	21067943		Mizuguchi, T.  et al. 2004	14727154				Interferon, beta 1, fibroblast	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002176.2		Japan	CDC GDPinfo	3456	Hs.93177			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		147640	24911	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
127034		malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	9	9p21	IFNB1	21067103	21067943		Aucan, C.  et al. 2003	12761564				Interferon, beta 1, fibroblast	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002176.2		Gambia	CDC GDPinfo	3456	Hs.93177			Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		147640	24912	2	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127029	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	21	21q22.1	IFNAR2	33524100	33591390		Sriram, U.  et al. 2003	12618863				Interferon (alpha, beta and omega) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207585.1			CDC GDPinfo	3455	Hs.642682			Genes and immunity. 2003 Mar;4(2):147-52	Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis.		602376	22317	2	2003	A trend detected with a single nucleotide polymorphism SNP 16469 (A/T) located at the third intron of the IFNAR1 gene, suggesting modest association with relapse-free status, will require confirmation in an independent data set. In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis.	Cohort 147 multiple sclerosis patients 	interferon									
127030		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	21	21q22.1	IFNAR2	33524100	33591390		Leyva, L.  et al. 2005	15885318				Interferon (alpha, beta and omega) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207585.1			CDC GDPinfo	3455	Hs.642682			Journal of neuroimmunology. 2005 Jun;163(2-Jan):165-71	IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.		602376	22318	2	2005	These data suggest a role for the IFNAR pathway in susceptibility to MS.`	Case:147 patients with multiple sclerosis undergoing interferon therapy during the last 2 years;Control:210 controls undergoing interferon therapy during the last 2 years										
127031		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	21	21q22.1	IFNAR2	33524100	33591390		Saito, T.  et al. 2004	15063762				Interferon (alpha, beta and omega) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207585.1		Japan	CDC GDPinfo	3455	Hs.642682			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		602376	28412	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
127026		malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998		Aucan, C.  et al. 2003	12761564				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2		Gambia	CDC GDPinfo	3454	Hs.529400			Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		107450	22316	2	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127027		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998		Saito, T.  et al. 2004	15063762				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2		Japan	CDC GDPinfo	3454	Hs.529400			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		107450	28378	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
127028	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	21	21q22.1	IFNAR2	33524100	33591390	n	Vandenbroeck K et al. 1999	10087402				interferon (alpha, beta and omega) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207585.1	Sardinian	Italy	KGB	3455	Hs.642682			Experimental and clinical immunogenetics. 1999 ;16(1):26-9	A dinucleotide repeat polymorphism located in the IFN-alpha/beta gene cluster at chromosome 9p22 is not associated with multiple sclerosis in Sardinia.		602376	3384	1	1999												
127023		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998		Leyva, L.  et al. 2005	15885318				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDPinfo	3454	Hs.529400			Journal of neuroimmunology. 2005 Jun;163(2-Jan):165-71	IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.		107450	11535	2	2005	These data suggest a role for the IFNAR pathway in susceptibility to MS.`	Case:147 patients with multiple sclerosis undergoing interferon therapy during the last 2 years;Control:210 controls undergoing interferon therapy during the last 2 years										
127024		depression	PSYCH	PSY	Hepatitis C, Chronic	21	21q22.1	IFNAR1	33619083	33653998		Yoshida, K.  et al. 2005	15990456			promoter	Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDPinfo	3454	Hs.529400			Neuropsychobiology. 2005 ;52(2):55-61	Promoter polymorphisms of the interferon-alpha receptor gene and development of Interferon-induced depressive symptoms in patients with chronic hepatitis C: preliminary findings.		107450	11536	2	2005	 This preliminary result suggests that the promoter GT repeat dinucleotide microsatellite polymorphism of the IFNAR1 gene may represent a risk factor for the development of depressive symptoms during IFN-alpha therapy for hepatitis C and other conditions.		IFN-alpha therapy									
127025		bone density	METABOLIC	MET	Osteoporosis	21	21q22.1	IFNAR1	33619083	33653998		Mizuguchi, T.  et al. 2004	14727154				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2		Japan	CDC GDPinfo	3454	Hs.529400			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		107450	22315	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
127020	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998	n	Ober C 2000	11022011	5`UTR(GT)n		5'promoter	interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2	Hutterites	South Dakota	KCB	3454	Hs.529400			American journal of human genetics. 2000 Nov;67(5):1154-62	A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.		107450	3383	1	2000												
127021	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	21	21q22.1	IFNAR1	33619083	33653998		Sriram, U.  et al. 2003	12618863				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDPinfo	3454	Hs.529400			Genes and immunity. 2003 Mar;4(2):147-52	Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis.		107450	11533	2	2003	A trend detected with a single nucleotide polymorphism SNP 16469 (A/T) located at the third intron of the IFNAR1 gene, suggesting modest association with relapse-free status, will require confirmation in an independent data set. In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis.	Cohort 147 multiple sclerosis patients 	interferon									
127022		hepatitis C	INFECTION	INF		21	21q22.1	IFNAR1	33619083	33653998		Matsuyama, N.  et al. 2003	12697242			promoter	Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDPinfo	3454	Hs.529400			Hepatology research. 2003 Mar;25(3):221-225	The dinucleotide microsatellite polymorphism of the IFNAR1 gene promoter correlates with responsiveness of hepatitis C patients to interferon.		107450	11534	2	2003	But these SNPs did not show a clinical significance, as compared with the GT-repeat in IFNAR1, in the context of interferon responsiveness.	Cohort 157 hepatitis C patients, of whom 50 were responders and 107 were nonresponders to interferon 										
127017	Y	sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	9	9p22	IFNA17	21217241	21218221		Akahoshi, M.  et al. 2004	15004750				Interferon, alpha 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021268.1		Japan	CDC GDPinfo	3451	Hs.282276			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		147583	17701	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
127018	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	21	21q22.1	IFNAR1	33619083	33653998	n	Sriram U 2003	12618863				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			KEW	3454	Hs.529400			Genes and immunity. 2003 Mar;4(2):147-52	Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis.		107450	3381	1	2003	A trend detected with a single nucleotide polymorphism SNP 16469 (A/T) located at the third intron of the IFNAR1 gene, suggesting modest association with relapse-free status, will require confirmation in an independent data set. In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis.	Cohort 147 multiple sclerosis patients	interferon									
127019	Y	Severe Malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998	0.003	Aucan C et al. Genes & Innunity 2003	12761564			coding sequence	Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2	Gambia	Gambia	Christophe Aucan	3454	Hs.529400	Cerebral Malaria		Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		107450	3382	1	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127014	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	9	9p22	IFNA1	21430439	21431315		Nakashima, H.  et al. 2005	15674657				Interferon, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024013.1			CDC GDPinfo	3439	Hs.37026			Clinical rheumatology. 2005 Feb;24(1):38-40	Association between IFNA genotype and the risk of systemic lupus erythematosus		147660	17641	2	2005	The results showed that no IFN-alpha genotype was significantly associated with the risk of SLE.											
127015	Y	malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	9	9p22	IFNA1	21430439	21431315		Aucan, C.  et al. 2003	12761564				Interferon, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024013.1		Gambia	CDC GDPinfo	3439	Hs.37026			Genes and immunity. 2003 Jun;4(4):275-82	Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.		147660	17642	2	2003	These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.	Case:190 severe malaria cases:Gambia;Control:190:controls										
127016	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	9	9p22	IFNA17	21217241	21218221		Kim, J. W.  et al. 2003	12490311	Ile184Arg			Interferon, alpha 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021268.1		Korea	CDC GDPinfo	3451	Hs.282276			Cancer letters. 2003 Jan;189(2):183-8	Interferon, alpha 17 (IFNA17) Ile184Arg polymorphism and cervical cancer risk.		147583	11532	2	2003	The results of this study suggest that the 184Ile homozygote of the IFNA17 gene may represent an important susceptibility biomarker for cervical cancer risk.	Case:173 cervical squamous cell carcinoma patients;Control:198 non-cancer controls										
127011		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	14	14q32	IFI27	93646831	93652786		Saito, T.  et al. 2004	15063762				Interferon, alpha-inducible protein 27	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005532.3		Japan	CDC GDPinfo	3429	Hs.532634			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		600009	28337	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
127012		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	9	9p22	IFNA1	21430439	21431315		Donn, R. P.  et al. 2001	11315919				Interferon, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024013.1			CDC GDPinfo	3439	Hs.37026			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147660	11951	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
127013	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	9	9p22	IFNA1	21430439	21431315		Nakashima, H.  et al. 2004	15674657				Interferon, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024013.1			CDC GDPinfo	3439	Hs.37026			Clinical rheumatology. 2005 Feb;24(1):38-40	Association between IFNA genotype and the risk of systemic lupus erythematosus		147660	17640	2	2004	We analyzed the association between IFN-alpha genotype and the risk of SLE to clarify whether IFN-alpha plays a central role in susceptibility to SLE. The results showed that no IFN-alpha genotype was significantly associated with the risk of SLE.											
127008	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Ertekin-Taner, N.  et al. 2004	15024728				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Human mutation. 2004 Apr;23(4):334-42	Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease.		146680	22314	2	2004	These results provide strong evidence for pathogenic variant(s) in the 276-kb region harboring IDE that influence intermediate AD phenotypes and risk for AD.	Control:108 age-matched controls;Case:109 late-onset Alzheimer's disease cases;Case:188 late-onset Alzheimer's disease cases;Control:188 age-matched controls										
127009	Y	Hurler syndrome	DEVELOPMENTAL	DEV	Mucopolysaccharidosis I	4	4p16.3	IDUA	970784	988317		Scott HS et al. 1992	1301196				iduronidase, alpha-L-				KGB	3425	Hs.89560			Human mutation. 1992 ;1(2):103-8	A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.		252800	3380	1	1992												
127010		mucopolysaccharidosis I	OTHER	OTH	Mucopolysaccharidosis I	4	4p16.3	IDUA	970784	988317		Gallegos-Arreola, M. P.  et al. 2003	12818523				Iduronidase, alpha-L-	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000203.2	Mexican	Mexico	CDC GDPinfo	3425	Hs.89560			Ann Genet. 2003 Jan-Mar;46(1):10-Jul	Mucopolysaccharidosis I: a comparative study ofhaplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population.		252800	17639	2	2003	 Our results support that these polymorphisms can be associated to mutations in IDUA gene, which leads to MPS-I in Mexican patients. On the other hand, these polymorphisms can be used to identify heterozygosity when they are informative.	Control:262 healthy Mexican subjects;Case:53 Mexican mucopolysaccharidosis I patients:Mexico										
127004	N	Down syndrome	DEVELOPMENTAL	DEV	Alzheimer Disease|Down Syndrome	10	10q23-q25	IDE	94204018	94323813		Arpino, C.  et al. 2005	15911128				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1		Rome	CDC GDPinfo	3416	Hs.500546			Neuroscience letters. 2005 Jul;382(2-Jan):93-5	Lack of association between IDE genetic variability and Down's syndrome.		146680	17637	2	2005	In conclusion, the findings of our study suggest that the two IDE polymorphisms considered in the analysis do not appear to play a major role in DS-related AD.	Control:251 apparently health controls;Case:287 Down syndrome patients										
127006	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Bian, L.  et al. 2004	15277615				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1	Chinese	China	CDC GDPinfo	3416	Hs.500546			Neurology. 2004 Jul;63(2):241-5	Insulin-degrading enzyme and Alzheimer disease: Agenetic association study in the Han Chinese		146680	22312	2	2004	 These results suggest a possible synergic interaction between IDE and APOE epsilon4 in the risk to develop late-onset sporadic AD. IDE might modify the effect of the APOE epsilon4 risk factor in the Han Chinese population.	Control:200 control subjects well matched for age, sex, and ethnic background;Case:210 Han Chinese patients with late-onset Alzheimer's:disease										
127007	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Prince, J. A.  et al. 2003	14517947				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Human mutation. 2003 Nov;22(5):363-71	Genetic variation in a haplotype block spanning IDE influences Alzheimer disease.		146680	22313	2	2003	These results provide substantial evidence that genetic variation within or extremely close to IDE impacts both disease risk and traits related to the severity of AD.	Case early- and late-onset AD cases from several independent sets of case-control materials;Control controls from several independent sets of case-control materials										
127000		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Blomqvist, M. E.  et al. 2004	15088150				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Neurogenetics. 2004 Jun;5(2):115-9	Sequence variation in the proximity of IDE may impact age at onset of both Parkinson disease and Alzheimer disease.		146680	17632	2	2004	Results were consistent between AD and PD, suggesting the presence of equivalent detrimental and protective alleles. These data highlight a genomic region in the proximity of IDE that may contribute to AD and PD in a similar manner.	Case Australian Parkinson's disease patients;Control:controls										
127002	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Nowotny, P.  et al. 2005	15858813				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):62-8	Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.		146680	17635	2	2005	Although our results are not universally negative, we were unable to replicate the results of previous studies and conclude that common variants or haplotypes of these variants in IDE are not major risk factors for LOAD.	Case:1,217 Alzheimer's disease cases;Control:1,257:controls										
127003		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Feuk, L.  et al. 2005	15858821				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):69-71	Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's disease.		146680	17636	2	2005	This study of multiple new markers in the region will facilitate further association studies in this important AD region.	Control:controls;Case Alzheimer's disease cases										
126997	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Boussaha, M.  et al. 2002	12161276				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Neuroscience letters. 2002 Aug;329(1):121-3	Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease.		146680	11530	2	2002	No association between these SNPs and AD was detected.	Case French Alzheimer's disease patients;Control:controls										
126998	Y	diabetes, type 2; glucose; HbA1c	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q23-q25	IDE	94204018	94323813		Karamohamed, S.  et al. 2003	12765971				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Diabetes. 2003 Jun;52(6):1562-7	Polymorphisms in the insulin-degrading enzyme gene are associated with type 2 diabetes in men from the NHLBI Framingham Heart Study.		146680	11531	2	2003	The evidence presented supports the possibility that IDE is a susceptibility gene for diabetes in populations of European descent.	Cohort 1,780 unrelated individuals (men n=888, women n=892) from the Framingham Offspring Cohort recruited in the early 1970s 										
126999	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Groves, C. J.  et al. 2003	12716770				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Diabetes. 2003 May;52(5):1300-5	Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.		146680	17629	2	2003	We conclude that  analysis of over 2,400 samples provides no compelling evidence that variation in IDE contributes to diabetes susceptibility in humans.	Control:604:controls;Case:628 diabetic probands from multiplex sibships										
126993		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	1	1p36.13-p36.12	ID3	23757018	23758872		Burmester, J. K.  et al. 2004	15583422				Inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002167.2			CDC GDPinfo	3399	Hs.76884			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		600277	27001	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
126994	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Groves CJ et al. 2003	12716770				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			KGB	3416	Hs.500546			Diabetes. 2003 May;52(5):1300-5	Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene a strong positional and biological candidate for type 2 diabetes susceptibility.		146680	3377	1	2003	We conclude that  analysis of over 2,400 samples provides no compelling evidence that variation in IDE contributes to diabetes susceptibility in humans.	Control:604:controls;Case:628 diabetic probands from multiplex sibships										
126995		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Edland SD 2003	12809979				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			KGB	3416	Hs.500546			Neuroscience letters. 2003 Jul;345(1):21-4	Insulin degrading enzyme (IDE) genetic variants and risk of Alzheimer's disease: evidence of effect modification by apolipoprotein E (APOE).		146680	3378	1	2003												
126990		diabetes, type 1; celiac disease; myasthenia gravis	IMMUNE	IMM		2	2q33	ICOS	204509747	204534543		Guzman, V. B.  et al. 2005	16112024				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			CDC GDPinfo	29851	Hs.56247			Human immunology. 2005 Jul;66(7):773-6	Characterization of CD28, CTLA4, and ICOS polymorphisms in three Brazilian ethnic groups.		604558	24906	2	2005												
126991		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33	ICOS	204509747	204534543		Piras, G.  et al. 2005	15953005				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			CDC GDPinfo	29851	Hs.56247			British journal of haematology. 2005 Jun;129(6):784-90	Genetic analysis of the 2q33 region containing CD28-CTLA4-ICOS genes: association withnon-Hodgkin's lymphoma.		604558	24907	2	2005												
126992		celiac disease	IMMUNE	IMM		2	2q33	ICOS	204509747	204534543		Brophy, K.  et al. 2005	16237465				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2	Irish		CDC GDPinfo	29851	Hs.56247			Genes and immunity. 2006 Jan;7(1):19-26	Haplotypes in the CTLA4 region are associated with coeliac disease in the Irish population.		604558	24908	2	2005												
126986		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Adams, G. T.  et al. 2003	12871600				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		147840	28227	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
126987		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	19	19p13.3-p13.2	ICAM1	10242778	10258291		Zee, R. Y.  et al. 2002	12082592				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147840	28587	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
126988		hyper-IgM syndrome	IMMUNE	IMM	Hypergammaglobulinemia	2	2q33	ICOS	204509747	204534543		Lee WI 2003	14610488				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			KGB	29851	Hs.56247			The Journal of allergy and clinical immunology. 2003 Nov;112(5):958-64	Inducible CO-stimulator molecule, a candidate gene for defective isotype switching~~~ is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.		604558	6749	1	2003	 These findings strongly suggest that ICOS does not belong to the group of genes that, if mutated, present clinically as the HIGM syndrome.											
126983		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	19	19p13.3-p13.2	ICAM1	10242778	10258291		Helbig, K. J.  et al. 2003	12595908				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147840	24905	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
126984		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	19	19p13.3-p13.2	ICAM1	10242778	10258291		Rocha, V.  et al. 2002	12393699				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		147840	26239	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
126985		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Barton, A.  et al. 2002	11981324				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147840	28155	2	2002	Review article											
126980		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Nejentsev, S.  et al. 2003	12590979				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		Finland	CDC GDPinfo	3383	Hs.643447			Human immunology. 2003 Mar;64(3):345-9	Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiplesclerosis.		147840	22308	2	2003	An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations. The effect observed was found to be strongest among the HLA-DQB1*0602-positive subjects, which implies genetic heterogeneity of MS. Meta-analysis of all published datasets supports increased risk of MS for the ICAM-1 Lys(469) homozygotes (relative risk = 1.3, p = 0.002).An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations. The effect observed was found to be strongest among the HLA-DQB1*0602-positive subjects, which implies genetic heterogeneity of MS. Meta-analysis of all published datasets supports increased risk of MS for the ICAM-1 Lys(469) homozygotes (relative risk = 1.3, p = 0.002).	Case Finnish and Spanish multiple sclerosis cases;Control:control Not defined in abstract Not defined in abstract										
126981		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Combarros, O.  et al. 2005	15854776				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		147840	24903	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
126982		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	19	19p13.3-p13.2	ICAM1	10242778	10258291		Flex, A.  et al. 2004	15308783				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		147840	24904	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
126976		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	19	19p13.3-p13.2	ICAM1	10242778	10258291		Rosner, S. A.  et al. 2005	16184405				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		147840	22304	2	2005			smoking (tobacco)									
126977		malaria	INFECTION	INF	Malaria, Falciparum	19	19p13.3-p13.2	ICAM1	10242778	10258291		Amodu, O. K.  et al. 2005	16002039				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		Nigeria	CDC GDPinfo	3383	Hs.643447			Acta tropica. 2005 Sep;95(3):248-55	Plasmodium falciparum malaria in south-west Nigerian children: is the polymorphism of ICAM-1and E-selectin genes contributing to the clinical severity of malaria?		147840	22305	2	2005												
126979	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	19	19p13.3-p13.2	ICAM1	10242778	10258291		John, S.  et al. 2001	11508575				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			The Journal of rheumatology. 2001 Aug;28(8):1752-5	Linkage and association analysis of candidate genes in rheumatoid arthritis		147840	22307	2	2001	 Our results do not provide evidence of a role for these genes in RA susceptibility.	185 multiplex rheumatoid arthritis families 										
126973	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Low, J. H.  et al. 2004	15290909				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Inflammatory bowel diseases. 2004 May;10(3):173-81	Inflammatory bowel disease is linked to 19p13 and associated with ICAM-1.		147840	17621	2	2004	These data support linkage for CD at 19p13 and suggest that the amino acid polymorphisms in ICAM-1 may be associated with IBD.	Case:228/243 Crohn's disease cases (n=228) and ulcerative colitis patients (n=243);Control:407 healthy controls										
126974	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Calcinosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Reilly, M. P.  et al. 2004	15682683				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Journal of investigative medicine. 2004 Dec;52(8):515-22	Intercellular adhesion molecule 1 (ICAM-1) gene variant is associated with coronary artery calcification independent of soluble ICAM-1 levels.		147840	17622	2	2004	 In a study sample specifically selected for the characteristic of a family history of premature coronary heart disease, ICAM K469E GG was associated with lower CAC scores in men but not women even after controlling for plasma levels of sICAM-1. These studies suggest that ICAM-1 variants may modulate atherosclerosis in humans and provide support for the concept that inflammatory gene polymorphisms may influence atherosclerosis independent of plasma levels of their gene products.	Cohort 632 asymptomatic subjects, recruited on the basis of a family history of premature cardiovascular disease 										
126975		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis	19	19p13.3-p13.2	ICAM1	10242778	10258291		Zak, I.  et al. 2005	16043164				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):110-8	Contemporaneous carrier-state of two or three "proatherosclerotic" variants of APOE, ICAM1, PPARA and PAI-1 genes differentiate CAD patients from healthy individuals.		147840	22303	2	2005	 In conclusion, contemporaneous carrier-state of two or three polymorphic variants within analyzed genes is associated with CAD.											
126970	Y	coronary heart disease, transplant associated	CARDIOVASCULAR	CARD	Coronary Disease|Disease Susceptibility	19	19p13.3-p13.2	ICAM1	10242778	10258291		Borozdenkova, S.  et al. 2001	11250042				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Human immunology. 2001 Mar;62(3):247-55	Identification of ICAM-1 polymorphism that is associated with protection from transplant associated vasculopathy after cardiac transplantation.		147840	13086	2	2001	No association was found between E-selectin, L-selectin, and PECAM allele or genotype frequencies and TxCAD. Our data suggest the presence of allele E469 ICAM-1 in either donor or recipient is protective against allograft rejection in a transplant setting.	Control:101 UK transplant donors;Case:82 cardiac transplant patients Harefield Hosptial:1987-1995;Case:96 cadaveric donors										
126971	Y	retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Hypercholesterolemia	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kamiuchi, K.  et al. 2002	12027924				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Diabetic medicine. 2002 May;19(5):371-6	Intercellular adhesion molecule-1 (ICAM-1) polymorphism is associated with diabetic retinopathy in Type 2 diabetes mellitus.		147840	13089	2	2002	 These data suggest that the ICAM-1 469KK genotype could be a genetic risk factor for retinopathy in Type 2 diabetes mellitus.	Control:50 diabetic patients without nephropathy;Case:81 diabetic patients with nephropathy										
126972		Crohn's disease	IMMUNE	IMM	Crohn Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Yacyshyn, B. R.  et al. 2005	15958080				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Clinical and experimental immunology. 2005 Jul;141(1):141-7	Gene polymorphisms and serological markers of patients with active Crohn's disease in a clinical trial of antisense to ICAM-1.		147840	14364	2	2005			Alicaforsen									
126967		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	19	19p13.3-p13.2	ICAM1	10242778	10258291		Nieters, A.  et al. 2001	11354638				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	German	Germany	CDC GDPinfo	3383	Hs.643447			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		147840	11795	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
126968		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Howell, W. M.  et al. 2005	15917409				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		147840	11908	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
126969		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	19	19p13.3-p13.2	ICAM1	10242778	10258291		Infante, J.  et al. 2005	15607204				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Journal of the neurological sciences. 2005 Jan;228(1):3-Nov	Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy		147840	11923	2	2005	These data support a role for inflammation-related genes in risk for MSA.	Case:41 multiple system atrophy (MSA) patients;Control:93 control subjects		IL8	(-251) TT	ICAM-1	E469K KK			Y		multiple system atrophy
126964	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Yamashita, M.  et al. 2005	15866119				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Japanese		CDC GDPinfo	3383	Hs.643447			Journal of the Society for Gynecologic Investigation. 2005 May;12(4):267-71	Association study of endometriosis and intercellular adhesion molecule-1 (icam-1) gene polymorphisms in a Japanese population		147840	11526	2	2005	 Our findings suggest that the G241R and K469E polymorphisms in the ICAM-1 gene are unlikely to be associated with an increased risk of endometriosis in the Japanese population.	Case:126 endometriosis patients;Control:172:controls										
126965		stroke, ischemic	CARDIOVASCULAR	CARD		19	19p13.3-p13.2	ICAM1	10242778	10258291		Wei, Y.  et al. 2005	15952122	K469E			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Chinese		CDC GDPinfo	3383	Hs.643447			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):305-8	[Intercellular adhesion molecule-1 gene K469E polymorphism and genetic susceptibility of ischemic stroke in Chinese Zhuang populations]		147840	11527	2	2005	 There is an association between ICAM-1 gene K469E polymorphism and IS, and E allele may be a genetic risk factor of IS among Guangxi Zhuangs, in which the ICAM-1 E allele carriers may have up-regulated expression of ICAM-1 and hence are at a higher risk of ischemic stroke.											
126966		malignant melanoma	UNKNOWN	UNK	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291			16313300				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			International journal of immunogenetics. 2005 Dec;32(6):367-73	ICAM-1 polymorphisms and development of cutaneous malignant melanoma		147840	11528	2	2005												
126961	Y	hematology indices	HEMATOLOGICAL	HEM	Insulin Resistance	19	19p13.3-p13.2	ICAM1	10242778	10258291		Ponthieux, A.  et al. 2003	12939654	Gly241Arg			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			European journal of human genetics. 2003 Sep;11(9):679-86	Association between Gly241Arg ICAM-1 gene polymorphism and serum sICAM-1 concentration in the Stanislas cohort		147840	11523	2	2003	IThe supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse.	Cohort 413/363 children aged 6-21 years (n=413) and adults aged 38-55 years (n=363) extracted from the Stanislas cohort 										
126962	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kretowski, A.  et al. 2003	14557478				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4945-9	Intercellular adhesion molecule 1 gene polymorphisms in graves' disease		147840	11524	2	2003	This suggests that G241R and K469E amino acid substitutions in the ICAM-1 molecule could influence the intensity/duration of the autoimmunity process and the infiltration of orbital tissues. It could be speculated that therapy that modulates ICAM-1 function may delay the onset and/or prolong the remission and/or have an influence on clinical manifestations of GD.	Control:211 healthy controls;Case:235 subjects with Graves' disease										
126963		schizophrenia	PSYCH	PSY	Autoimmune Diseases|Schizophrenia	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kronig, H.  et al. 2005	15756053	Gly241Arg			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Neuroimmunomodulation. 2005 ;12(1):54-9	ICAM G241A polymorphism and soluble ICAM-1 serum levels: evidence for an active immune process inschizophrenia.		147840	11525	2	2005	 We hypothesize that the biochemical effect of the G241A SNP is masked in schizophrenic patients, indicating a disease-related mechanism leading to reduced levels of sICAM-1 in schizophrenia.	Control:128 unrelated healthy controls;Case:70 schizophrenic patients										
126958	Y	coronary heart disease; myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	19	19p13.3-p13.2	ICAM1	10242778	10258291		Jiang, H.  et al. 2002	12127369				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			International journal of cardiology. 2002 Aug;84(3-Feb):171-7	C/T polymorphism of the intercellular adhesion molecule-1 gene (exon 6, codon 469). A risk factor for coronary heart disease and myocardial infarction.		147840	11520	2	2002	 These results suggest that the TT and TC genotype of the ICAM-1 gene polymorphism in codon 469 is a genetic factor that may determine an individual's susceptibility for CHD and MI.	Control:213 German patients with normal left ventricular function and no documented evidence of CHD;Case:349 German patients with angiographically documented coronary heart disease, including a sub-group of 179 patients with acute or chronic MI.										
126959	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Matsuzawa, J.  et al. 2003	12477764	K469E			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Japanese	Japan	CDC GDPinfo	3383	Hs.643447			Gut. 2003 Jan;52(1):75-8	Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel disease in a Japanese population.		147840	11521	2	2003	 We identified an overall association between IBD and ICAM-1 K469 in a Japanese population. Further studies of this chromosome region are required to elucidate the gene responsible for IBD.	Control:103 unrelated Japanese controls;Case:207 Japanese patients who had IBD (79 with Crohn's disease (CD); 128 with ulcerative colitis (UC)):Japan										
126960	N	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Mattila, K. M.  et al. 2003	12524171	K469E			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Finnish	Finland	CDC GDPinfo	3383	Hs.643447			Neuroscience letters. 2003 Jan;337(1):61-3	Absence of association between an intercellular adhesion molecule 1 gene E469K polymorphism and Alzheimer's disease in Finnish patients		147840	11522	2	2003	We therefore conclude that the E469K polymorphism of ICAM1 is not a risk factor for AD or PD.	Case:196/52 Alzheimer's (n=196) and Parkinson's (n=52) disease patients of Finnish origins;Control:202 control patients of Finnish origin										
126955	Y	vascular dementia	PSYCH	PSY	Dementia, Vascular|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Pola R et al. 2002	12095649				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			Neuroscience letters. 2002 Jul;326(3):171-4	Association between intercellular adhesion molecule-1 E/K gene polymorphism and probable vascular dementia in humans.		147840	3376	1	2002	Our findings support the hypothesis that ICAM-1 plays a role in the physiopathology of ischemic cerebrovascular disorders and suggest that genetic polymorphisms of ICAM-1 might be clinically important in the development and progression of NEUROLOGICALenerative diseases.	Case:107 patients affected by probable vascular dementia;Control:115 age- and sex-matched controls										
126956	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	19	19p13.3-p13.2	ICAM1	10242778	10258291		Macchioni, P.  et al. 2000	11072593				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Italian	Italy	CDC GDPinfo	3383	Hs.643447			Clinical and experimental rheumatology. 2000 Sep-Oct;18(5):553-8	Intercellular adhesion molecule 1 (ICAM-1) gene polymorphisms in Italian patients with rheumatoid arthritis		147840	11518	2	2000	 Our preliminary findings show that G/R 241 polymorphism of ICAM-1 is associated with RA, and that this confers a reduced risk of extra-articular manifestations and is associated with a slow rate of joint destruction.	Control:228 healthy subjects of the same ethnic origin were selected as a control group;Case:78 seropositive Italian RA patients with erosive disease entered the study										
126957	Y	dementia, vascular	PSYCH	PSY	Dementia, Vascular|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Pola, R.  et al. 2002	12095649				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Neuroscience letters. 2002 Jul;326(3):171-4	Association between intercellular adhesion molecule-1 E/K gene polymorphism and probable vascular dementia in humans.		147840	11519	2	2002	Our findings support the hypothesis that ICAM-1 plays a role in the physiopathology of ischemic cerebrovascular disorders and suggest that genetic polymorphisms of ICAM-1 might be clinically important in the development and progression of NEUROLOGICALenerative diseases.	Case:107 patients affected by probable vascular dementia;Control:115 age- and sex-matched controls										
126951	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Hypercholesterolemia	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kamiuchi K 2002	12027924				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			Y Wang	3383	Hs.643447	diabetic retinopathy		Diabetic medicine. 2002 May;19(5):371-6	Intercellular adhesion molecule-1 (ICAM-1) polymorphism is associated with diabetic retinopathy in Type 2 diabetes mellitus.		147840	3372	1	2002	 These data suggest that the ICAM-1 469KK genotype could be a genetic risk factor for retinopathy in Type 2 diabetes mellitus.	Control:50 diabetic patients without nephropathy;Case:81 diabetic patients with nephropathy										
126952		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kristiansen OP 2004	11132145				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Danish	Europe|Denmark	Y Wang	3383	Hs.643447			Immunogenetics. 2000 Nov;52(2-Jan):107-11	The intercellular adhesion molecule-1 K469E polymorphism in type 1 diabetes.		147840	3373	1	2004												
126953		Restenosis	OTHER	OTH	Coronary Restenosis|Hyperlipidemias|Obesity	19	19p13.3-p13.2	ICAM1	10242778	10258291		Liu ZP 2004	14975197				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		China	KGB	3383	Hs.643447			Chinese medical journal. 2004 Feb;117(2):172-5	Polymorphism K469E of intercellular adhesion molecule-1 gene and restenosis after coronary stenting in Chinese patients.		147840	3374	1	2004	 In our study population, KK homozygotes of the ICAM-1 codon 469 mutation had a higher risk of restenosis after coronary stenting, especially in the case of obese or hyperlipemia patients.											
126948	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19p13.3-p13.2	ICAM1	10242778	10258291	p=0.006	Nejentsev S 2003	14643123	R241 was associated with lower risk of type 1 diabetes than is G241			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	white, from Europe or the USA		KGB	3383	Hs.643447			Lancet. 2003 Nov;362(9397):1723-4	Association of intercellular adhesion molecule-1 gene with type 1 diabetes.		147840	3369	1	2003	Our data indicate an aetiological role for ICAM-1 in type 1 diabetes, which needs to be confirmed in future genetic and functional experiments.	Case:3695 families										
126949	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kretowski A 2003	14557478				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			The Journal of clinical endocrinology and metabolism. 2003 Oct;88(10):4945-9	Intercellular adhesion molecule 1 gene polymorphisms in Graves' disease.		147840	3370	1	2003	This suggests that G241R and K469E amino acid substitutions in the ICAM-1 molecule could influence the intensity/duration of the autoimmunity process and the infiltration of orbital tissues. It could be speculated that therapy that modulates ICAM-1 function may delay the onset and/or prolong the remission and/or have an influence on clinical manifestations of GD.	Control:211 healthy controls;Case:235 subjects with Graves' disease										
126950		TPA-induced apoptosis	OTHER	OTH		19	19p13.3-p13.2	ICAM1	10242778	10258291		Iwao M 2004	15081401	g.1548G > A (E469K)			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			Biochemical and biophysical research communications. 2004 May;317(3):729-35	Single-nucleotide polymorphism g.1548G > A (E469K) in human ICAM-1 gene affects mRNA splicing pattern and TPA-induced apoptosis.		147840	3371	1	2004												
126945		polymyalgia rheumatica/giant cell arteritis	OTHER	OTH	Polymyalgia Rheumatica|Giant Cell Arteritis|Cataract|Thrombosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Salvarani C et al. 2000	10813290				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			The Journal of rheumatology. 2000 May;27(5):1215-21	Intercellular adhesion molecule 1 gene polymorphisms in polymyalgia rheumatica/giant cell arteritis: association with disease risk and severity.		147840	3366	1	2000	 Our findings show that G/R 241 polymorphism of ICAM-1 is associated with PMR/GCA susceptibility and confers an increased risk of relapse/recurrence in PMR.											
126946	Y	transplant associated vasculopathy after cardiac transplantation	CARDIOVASCULAR	CARD	Coronary Disease|Disease Susceptibility	19	19p13.3-p13.2	ICAM1	10242778	10258291		Borozdenkova S et al. 2001	11250042				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			Human immunology. 2001 Mar;62(3):247-55	Identification of ICAM-1 polymorphism that is associated with protection from transplant associated vasculopathy after cardiac transplantation.		147840	3367	1	2001	No association was found between E-selectin, L-selectin, and PECAM allele or genotype frequencies and TxCAD. Our data suggest the presence of allele E469 ICAM-1 in either donor or recipient is protective against allograft rejection in a transplant setting.	Control:101 UK transplant donors;Case:82 cardiac transplant patients Harefield Hosptial:1987-1995;Case:96 cadaveric donors										
126947	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Matsuzawa J et al. 2003	12477764				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Japanese	Japan	KGB	3383	Hs.643447			Gut. 2003 Jan;52(1):75-8	Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel disease in a Japanese population.		147840	3368	1	2003	 We identified an overall association between IBD and ICAM-1 K469 in a Japanese population. Further studies of this chromosome region are required to elucidate the gene responsible for IBD.	Control:103 unrelated Japanese controls;Case:207 Japanese patients who had IBD (79 with Crohn's disease (CD); 128 with ulcerative colitis (UC)):Japan										
126941	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291	n	Mattila KM et al. 2003	12524171				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		Finland	KGB	3383	Hs.643447			Neuroscience letters. 2003 Jan;337(1):61-3	Absence of association between an intercellular adhesion molecule 1 gene E469K polymorphism and Alzheimer's disease in Finnish patients.		147840	3362	1	2003	We therefore conclude that the E469K polymorphism of ICAM1 is not a risk factor for AD or PD.	Case:196/52 Alzheimer's (n=196) and Parkinson's (n=52) disease patients of Finnish origins;Control:202 control patients of Finnish origin										
126942	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19p13.3-p13.2	ICAM1	10242778	10258291		Nishimura M et al. 2000	10773353				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		Japan	KGB	3383	Hs.643447			Human immunology. 2000 May;61(5):507-10	Association between type 1 diabetes age-at-onset and intercellular adhesion molecule-1 (ICAM-1) gene polymorphism.		147840	3363	1	2000												
126943	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19p13.3-p13.2	ICAM1	10242778	10258291	n	Marrosu MG et al. 2000	11081805			coding sequence	Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Sardinian	Italy	KGB	3383	Hs.643447			Journal of neurology. 2000 Sep;247(9):677-80	ICAM-1 gene is not associated with multiple sclerosis in sardinian patients.		147840	3364	1	2000		Case:157; Control:314 parents and 126 siblings										
126937	N	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Vision Disorders|Ischemia|Anemia|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291	n	Amoli MM 2001	11469468				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Northwest Spain		KGB	3383	Hs.643447			The Journal of rheumatology. 2001 Jul;28(7):1600-4	Lack of association between intercellular adhesion molecule-1 gene polymorphisms and giant cell arteritis.		147840	3358	1	2001	 ICAM-1 polymorphisms are not genetic risk factors for the susceptibility and severity of GCA in Northwest Spain.	Case:58; Control:129										
126939	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19p13.3-p13.2	ICAM1	10242778	10258291	n	Nejentsev S et al. 2000	10902613				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1		Finland	KGB	3383	Hs.643447			Tissue antigens. 2000 Jun;55(6):568-70	Intercellular adhesion molecule-1 (ICAM-1) K469E polymorphism: no association with type 1 diabetes among Finns.		147840	3360	1	2000												
126940	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Braun C et al. 2001	11726228				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			Clinical immunology (Orlando, Fla). 2001 Dec;101(3):357-60	Polymorphisms of the ICAM-1 gene are associated with inflammatory bowel disease regardless of the p-ANCA status.		147840	3361	1	2001												
126934	Y	cholesterol; diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Lee, S. C.  et al. 2001	11318791				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Chinese	China|Hong Kong	CDC GDPinfo	3375	Hs.46835			Clinical endocrinology. 2001 Apr;54(4):541-6	The islet amyloid polypeptide (amylin) gene S20G mutation in Chinese subjects: evidence forassociations with type 2 diabetes and cholesterol levels.		147940	17617	2	2001	 Our data suggest that the islet amyloid polypeptide gene mutation might be associated with early occurrence of type 2 diabetes and lower plasma levels of total and low density lipoprotein-cholesterol in the Chinese population.	Control:126 nondiabetic subjects;Case:227 early-onset type 2 diabetic patients;Case:235 late-onset diabetic patients										
126935		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Poa, N. R.  et al. 2003	12679865			promoter	Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1		New Zealand	CDC GDPinfo	3375	Hs.46835			Diabetologia. 2003 Apr;46(4):574-8	Amylin gene promoter mutations predispose to Type 2 diabetes in New Zealand Maori.		147940	17618	2	2003	The amylin gene mutations identified in this study are associated with Type 2 diabetes in 7% of Maori. Amylin is likely to be an important susceptibility gene for Type 2 diabetes in Maori people.	Case:131 type 2 diabetic Maori patients;Control:258 non-diabetic Maori control subjects										
126936	Y	body mass; diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Cho, Y. M.  et al. 2003	12706321				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Korean	Korea	CDC GDPinfo	3375	Hs.46835			Diabetes research and clinical practice. 2003 May;60(2):125-9	S20G mutation of the amylin gene is associated with a lower body mass index in Korean type 2 diabetic patients.		147940	17619	2	2003	In summary, the frequency of the S20G mutation in the amylin gene is 1.92% in unrelated Korean type 2 diabetic patients and this mutation is associated with a lower BMI and a higher HbA(1c) level.	Control:151 non-diabetic subjects;Case:364 unrelated Korean type 2 diabetic subjects:Korea										
126930		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Pildal J 2003	12786686				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Caucasian		Y Wang	3375	Hs.46835			Diabetic medicine. 2003 Jun;20(6):491-4	Studies of variability in the islet amyloid polypeptide gene in relation to Type 2 diabetes.		147940	3356	1	2003	 Neither variability in the coding region of the IAPP gene nor the -132g-->a promoter variant was associated with Type 2 diabetes among the studied Danish Caucasians.											
126931		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Cook JT 1991	1676684				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Caucasian		Y Wang	3375	Hs.46835			Diabetologia. 1991 Feb;34(2):103-8	Non-linkage of the islet amyloid polypeptide gene with type 2 (non-insulin-dependent) diabetes mellitus.		147940	3357	1	1991												
126932	N	diabetes, type 2; cholesterol, LDL; diabetes, gestational	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Rojas, I.  et al. 2002	12588049			intron	Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Spanish		CDC GDPinfo	3375	Hs.46835			Endocrine. 2002 Nov;19(2):185-9	Polymorphism in intron 2 of islet amyloid polypeptide gene is associated with lower low-density lipoprotein cholesterol in nondiabetic subjects and in type 2 diabetic patients.		147940	11515	2	2002	Our findings indicate that the presence of the +79-bp polymorphism of the IAPP gene in nondiabetic subjects and in patients with type 2 diabetes is associated with lower levels of LDL cholesterol. Furthermore, abnormalities of the coding regions or the 5'-UTR of the IAPP gene are not associated with type 2 diabetes or GDM in the Spanish population.	Control:110/38 healthy controls (n=110) and gestational controls:(n=38);Case:177/38 unrelated type 2 diabetic patients (n=177) and women with gestational diabetes mellitus (n=38)										
126926		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Xiang K 1998	11038774	ser20gly			Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Chinese		Y Wang	3375	Hs.46835			Zhonghua yi xue za zhi. 1998 Nov;78(11):817-20	The impact of the missense mutation-ser20gly in islet amyloid polypeptide gene on NIDDM in Chinese		147940	3352	1	1998	 The Ser20Gly mutation of IAPP gene was present in Chinese. This mutation does not cause monogenic inheritance diabetes, but may be a pathogenetic factor for the development of NIDDM, the complex genetic disease.											
126927	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Lee SC 2001	11318791				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Chinese	China|Hong Kong	Y Wang	3375	Hs.46835			Clinical endocrinology. 2001 Apr;54(4):541-6	The islet amyloid polypeptide (amylin) gene S20G mutation in Chinese subjects: evidence for associations with type 2 diabetes and cholesterol levels.		147940	3353	1	2001	 Our data suggest that the islet amyloid polypeptide gene mutation might be associated with early occurrence of type 2 diabetes and lower plasma levels of total and low density lipoprotein-cholesterol in the Chinese population.	Control:126 nondiabetic subjects;Case:227 early-onset type 2 diabetic patients;Case:235 late-onset diabetic patients										
126928		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		McCarthy MI 1992	1359959				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	South Indian	India	Y Wang	3375	Hs.46835			Diabetes research and clinical practice. 1992 Oct;18(1):31-4	The islet amyloid polypeptide gene and non-insulin-dependent diabetes mellitus in south Indians.		147940	3354	1	1992												
126929		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Ohagi S 1992	1362147				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Japanese	Japan	Y Wang	3375	Hs.46835			Diabetes research and clinical practice. 1992 Nov;18(2):71-4	Restriction fragment length polymorphisms near the islet amyloid polypeptide gene in Japanese subjects.		147940	3355	1	1992												
126922		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	10	10q21-q24	HTR7	92490555	92607651		Gorwood, P.  et al. 2004	15581469				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3			CDC GDPinfo	3363	Hs.73739			Med Sci (Paris). 2004 Dec;20(12):1132-8	[Alcohol dependence and polymorphisms of serotonin-related genes]		182137	26238	2	2004	Genes involved in the transmission, reuptake and metabolism of serotonin constitute a set of candidate genes that could be involved in core aspects of alcoholism, such as the tendency to prefer immediate reward, despite negative consequences.											
126923	Y	insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	11	11q23.1-q23.3	HYOU1	118420109	118433122		Kovacs P et al. 2002	11978664				Hypoxia up-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006389.2			KGB	10525	Hs.277704			Diabetes. 2002 May;51(5):1618-21	Polymorphisms in the oxygen-regulated protein 150 gene (ORP150) are associated with insulin resistance in Pima Indians.		601746	6666	1	2002												
126925		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Sakagashira S 1996	8772735	S20G			Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Japanese	Japan	Y Wang	3375	Hs.46835			Diabetes. 1996 Sep;45(9):1279-81	Missense mutation of amylin gene (S20G) in Japanese NIDDM patients.		147940	3351	1	1996												
126919		schizophrenia	PSYCH	PSY	Acute Disease|Cognition Disorders|Schizophrenia	10	10q21-q24	HTR7	92490555	92607651		Lane, H. Y.  et al. 2004	14741325				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3			CDC GDPinfo	3363	Hs.73739			Schizophrenia research. 2004 Mar;67(1):63-70	Risperidone response and 5-HT6 receptor gene variance: genetic association analysis withadjustment for nongenetic confounders.		182137	22302	2	2004	In conclusion, the 5HT(6) receptor gene variant can affect risperidone response to positive symptoms and general psychopathology (but not negative symptoms) after control for nongenetic factors.	Cohort 123 acutely ill schizophrenia inpatients 	risperidone									
126920		anorexia nervosa; bulimia	PSYCH	PSY		10	10q21-q24	HTR7	92490555	92607651		Tozzi, F.  et al. 2002	12473966				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3			CDC GDPinfo	3363	Hs.73739			Psychopharmacology bulletin. 2002 ;36(3):60-90	Candidate gene studies in eating disorders.		182137	24900	2	2002	Review article											
126921		schizophrenia	PSYCH	PSY	Schizophrenia	10	10q21-q24	HTR7	92490555	92607651		Masellis, M.  et al. 2001	11163544				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3			CDC GDPinfo	3363	Hs.73739			Schizophrenia research. 2001 Jan;47(1):49-58	Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia.		182137	24901	2	2001	Overall, our findings do not support a role for the T-->C 267 polymorphism of the 5-HT6 receptor gene in response to clozapine, although replication is required to confirm this finding.	Cohort 185 schizophrenia patients that have been clinically well characterized for clozapine response 	clozapine									
126915		personality disorders	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Ham, B. J.  et al. 2004	14698468				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Korean		CDC GDPinfo	3362	Hs.22180			Neuroscience letters. 2004 Jan;354(1):5-Feb	Serotonergic genes and personality traits in the Korean population		601109	22301	2	2004	Our result suggested that 5-HT(2A) receptor gene polymorphism (A-1438G) appears to be associated with self-determinism and self-transcendence (ST). Our result also indicated a significant relationship between 5-HT(6) receptor gene polymorphism (C267T) and ST. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.	Cohort 146 healthy adults with no history of psychiatric disorders or other physical illness during the last 6 months Korea 										
126916		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Zhang, M.  et al. 2003	12579508				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Chinese		CDC GDPinfo	3362	Hs.22180			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):69-71	[Associations between six functional genes and schizophrenia]		601109	26237	2	2003	 The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.	Control:controls;Case:67 Chinese Han schizophrenic patients										
126917	N	suicide	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		601109	27747	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126912	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36-p35	HTR6	19864366	19878642		Kan, R.  et al. 2004	15531082				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Chinese		CDC GDPinfo	3362	Hs.22180			Neuroscience letters. 2004 Nov;372(2-Jan):27-9	Association of the HTR6 polymorphism C267T with late-onset Alzheimer's disease in Chinese.		601109	22298	2	2004	These data suggest that the HTR6 polymorphism C267T possibly involved in the susceptibility to LOAD as an APOE varepsilon4-allele independent risk factor of LOAD.	Case sporadic late-onset Alzheimer's disease cases:China;Control:controls										
126913	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Masellis, M.  et al. 2001	11163544				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Schizophrenia research. 2001 Jan;47(1):49-58	Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia.		601109	22299	2	2001	Overall, our findings do not support a role for the T-->C 267 polymorphism of the 5-HT6 receptor gene in response to clozapine, although replication is required to confirm this finding.	Cohort 185 schizophrenia patients that have been clinically well characterized for clozapine response 	clozapine									
126914		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36-p35	HTR6	19864366	19878642		Thome, J.  et al. 2001	11725820				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			J Neural Transm. 2001 ;108(10):1175-80	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease		601109	22300	2	2001	These polymorphisms probably do not represent major genetic risk factors of AD. However, further studies including other genetic variants of the serotonergic neurotransmitter system are needed in order to elucidate their role in AD.	Case patients suffering from AD;Control non-demented psychiatric inpatients without symptoms of dementia										
126909	N	suicide	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Okamura, K.  et al. 2005	15896229				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Psychiatry and clinical neurosciences. 2005 Jun;59(3):345-9	Lack of an association between 5-HT receptor gene polymorphisms and suicide victims.		601109	11512	2	2005	In both polymorphisms, there were no significant differences in genotype or allele frequencies between the suicide victims and the controls. Moreover, there were no significant differences in the haplotype distributions of these polymorphisms between the two groups. These findings suggest that it is unlikely that the 5-HT(6) receptor gene is involved in the susceptibility to suicide.	Case:163 suicide victims;Control:166:controls										
126910		schizophrenia	PSYCH	PSY	Acute Disease|Cognition Disorders|Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Lane, H. Y.  et al. 2004	14741325				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Schizophrenia research. 2004 Mar;67(1):63-70	Risperidone response and 5-HT6 receptor gene variance: genetic association analysis withadjustment for nongenetic confounders.		601109	17615	2	2004	In conclusion, the 5HT(6) receptor gene variant can affect risperidone response to positive symptoms and general psychopathology (but not negative symptoms) after control for nongenetic factors.	Cohort 123 acutely ill schizophrenia inpatients 	risperidone									
126911	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36-p35	HTR6	19864366	19878642		Alvarez-Alvarez, M.  et al. 2003	12618306				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1		Spain	CDC GDPinfo	3362	Hs.22180			Neuroscience letters. 2003 Mar;339(1):85-7	5-Hydroxytryptamine 6 receptor (5-HT(6)) receptor and apolipoprotein E (ApoE) polymorphisms in patients with Alzheimer's disease in the Basque Country.		601109	22297	2	2003	In conclusion, the association of ApoE epsilon4 to AD in a sample of patients from the Basque Country is confirmed, though the association to C267T polymorphism of the 5-HT(6) receptor has not been observed.	Control:102 age and sex matched controls;Case:173 Alzheimer's disease cases Basque Country, Spain										
126906	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36-p35	HTR6	19864366	19878642		Messina, D.  et al. 2002	11889255	C267T			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Neurology. 2002 Mar;58(5):828-9	Association of the 5-HT6 receptor gene polymorphism C267T with Parkinson's disease		601109	11507	2	2002	We investigated the association between the C267T polymorphism of the 5-HT6 gene and PD and found that individuals carrying the T allele had significatnly lower risk for developing PD	Control:234 healthy subjects enrolled during a previous aging:study;Case:243 sporadic Parkinson's disease patients										
126907	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced	1	1p36-p35	HTR6	19864366	19878642		Ohmori, O.  et al. 2002	12057822	C267T			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Psychiatry research. 2002 Jun;110(2):97-102	Genetic association analysis of 5-HT(6) receptor gene polymorphism (267C/T) with tardive dyskinesia.		601109	11508	2	2002	These results suggest that the 267C/T polymorphism of HTR6 does not confer increased susceptibility to TD.	Cohort 173 Japanese patients with schizophrenia 	antipsychotic drug									
126908	Y	depression	PSYCH	PSY	Depressive Disorder, Major	1	1p36-p35	HTR6	19864366	19878642		Lee, S. H.  et al. 2005	15823158	C267T			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Psychiatry and clinical neurosciences. 2005 Apr;59(2):140-5	Association between the 5-HT6 receptor C267T polymorphism and response to antidepressant treatment in major depressive disorder.		601109	11511	2	2005	These findings imply that a 5-HT6 receptor polymorphism (C267T) is associated with treatment response in MDD.	Control:127 normal controls;Case:91 patients with major depressive disorder										
126903	Y	personality traits	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Ham BJ 2004	14698468	C267T			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Korean		KGB	3362	Hs.22180	self-determinism and self-transcendence		Neuroscience letters. 2004 Jan;354(1):5-Feb	Serotonergic genes and personality traits in the Korean population.		601109	3349	1	2004	Our result suggested that 5-HT(2A) receptor gene polymorphism (A-1438G) appears to be associated with self-determinism and self-transcendence (ST). Our result also indicated a significant relationship between 5-HT(6) receptor gene polymorphism (C267T) and ST. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.	Cohort 146 healthy adults with no history of psychiatric disorders or other physical illness during the last 6 months Korea										
126904	N	schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Chiu, H. J.  et al. 2001	11287786				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Neuropsychobiology. 2001 ;43(3):113-6	Serotonin 6 Receptor Polymorphism in Schizophrenia:Frequency, Age at Onset and Cognitive Function		601109	11504	2	2001	The results of this study suggest that the 5HT6 C267T polymorphism plays no major role in susceptibility to the development of schizophrenia and is not related to cognitive impairment or age at onset in schizophrenic patients. Further studies of the relation between 5HT6 polymorphism and the symptoms and the therapeutic response in schizophrenic patients may help to elucidate the role of 5HT6 in the pathogenesis of schizophrenia.	Case:148 schizophrenic disorder patients;Control:160 control subjects										
126905	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Ohmori, O.  et al. 2001	11524147				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDPinfo	3362	Hs.22180			Neuroscience letters. 2001 Sep;310(1):17-20	Novel polymorphism in the 5'-upstream region of the human 5-HT6 receptor gene and schizophrenia.		601109	11505	2	2001	Our results suggest that the 5-HT6 receptor gene polymorphism does not confer increased susceptibility to schizophrenia.	Control:206 controls not otherwise specified in abstract;Case:246 patients with schizophrenia										
126899		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder	1	1p36-p35	HTR6	19864366	19878642		Liu HC et al. 2001	11442897				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1		Taiwan	KGB	3362	Hs.22180			Psychiatry and clinical neurosciences. 2001 Aug;55(4):427-9	Association analysis of the 5-HT6 receptor polymorphism C267T with depression in patients with Alzheimer's disease.		601109	3345	1	2001												
126900		mood disorders	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Bipolar Disorder|Depressive Disorder	1	1p36-p35	HTR6	19864366	19878642		Hong CJ et al. 1999	10581475				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			American journal of medical genetics. 1999 Dec;88(6):601-2	Association analysis of the 5-HT(6) receptor polymorphism (C267T) in mood disorders.		601109	3346	1	1999												
126901		schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Shinkai T et al. 1999	10206228				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			American journal of medical genetics. 1999 Apr;88(2):120-2	Association study of the 5-HT6 receptor gene in schizophrenia.		601109	3347	1	1999												
126902	N	Tardive Dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced	1	1p36-p35	HTR6	19864366	19878642	n	Ohmori O 2002	12057822	267C/T			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Japanese		TJB	3362	Hs.22180			Psychiatry research. 2002 Jun;110(2):97-102	Genetic association analysis of 5-HT(6) receptor gene polymorphism (267C/T) with tardive dyskinesia.		601109	3348	1	2002	These results suggest that the 267C/T polymorphism of HTR6 does not confer increased susceptibility to TD.	Cohort 173 Japanese patients with schizophrenia	antipsychotic drug									
126895	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36-p35	HTR6	19864366	19878642	P=0.013	Messina D 2002	11889255	C267T	as the C267T change in the 5-HT6 gene is a silent mutation that predicts no amino acid substitution in the receptor protein. that individuals carrying the T allele had a significantly lower risk for developing PD.	other	5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			Neurology. 2002 Mar;58(5):828-9	Association of the 5-HT6 receptor gene polymorphism C267T with Parkinson's disease		601109	3341	1	2002	We investigated the association between the C267T polymorphism of the 5-HT6 gene and PD and found that individuals carrying the T allele had significatnly lower risk for developing PD	Control:234 healthy subjects enrolled during a previous aging:study;Case:243 sporadic Parkinson's disease patients										
126896		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36-p35	HTR6	19864366	19878642		Tsai SJ et al. 1999	10624811				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			Neuroscience letters. 1999 Dec;276(2):138-9	Association analysis of the 5-HT6 receptor polymorphism C267T in Alzheimer's disease.		601109	3342	1	1999												
126898		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36-p35	HTR6	19864366	19878642		Thome J et al. 2001	11725820				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			J Neural Transm. 2001 ;108(10):1175-80	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease.		601109	3344	1	2001												
126892		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	7	7q36.1	HTR5A	154493478	154508392		Gorwood, P.  et al. 2004	15581469				5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2			CDC GDPinfo	3361	Hs.65791			Med Sci (Paris). 2004 Dec;20(12):1132-8	[Alcohol dependence and polymorphisms of serotonin-related genes]		601305	24899	2	2004	Genes involved in the transmission, reuptake and metabolism of serotonin constitute a set of candidate genes that could be involved in core aspects of alcoholism, such as the tendency to prefer immediate reward, despite negative consequences.											
126893	N	suicide	PSYCH	PSY		7	7q36.1	HTR5A	154493478	154508392		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2			CDC GDPinfo	3361	Hs.65791			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		601305	27482	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126894	N	Response to Clozapine in Schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36-p35	HTR6	19864366	19878642	n	Masellis M 2001	11163544	T -->C 267			5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			Schizophrenia research. 2001 Jan;47(1):49-58	Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia.		601109	3340	1	2001	Overall, our findings do not support a role for the T-->C 267 polymorphism of the 5-HT6 receptor gene in response to clozapine, although replication is required to confirm this finding.	Cohort 185 schizophrenia patients that have been clinically well characterized for clozapine response	clozapine									
126889		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q31-q33	HTR4	147810787	148025489		Suzuki, T.  et al. 2003	12898568				5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1	Japanese		CDC GDPinfo	3360	Hs.483773			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):13-Jul	Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia		602164	17609	2	2003	These findings suggest that haplotype A-T itself may inhibit the occurrence of schizophrenia, or that another susceptible genetic variants may exist within linkage disequilibrium.	Case:189 unrelated Japanese schizophrenics;Control:299:controls										
126890	Y	depression, psychosis and antipsychotic response	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	7	7q36.1	HTR5A	154493478	154508392	p = 0.004	Birkett JT et al. 2000	10884063				5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2	British caucasian		KGB	3361	Hs.65791			Neuroreport. 2000 Jun;11(9):2017-20	Association analysis of the 5-HT5A gene in depression psychosis and antipsychotic response.		601305	3339	1	2000	We conclude that  allelic variation in the human 5-HT5A receptor gene may be involved in susceptibility to schizophrenia and affective disorders but not in determining response to clozapine.	Case:269 unrelated schizophrenics treated with clozapine, 112 bipolar, 75 unipolar; Control:187										
126891	Y	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q36.1	HTR5A	154493478	154508392		Iwata, N.  et al. 2001	11317225	Pro15Ser			5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2	Japanese		CDC GDPinfo	3361	Hs.65791			Molecular psychiatry. 2001 Mar;6(2):217-9	Association of a 5-HT(5A) receptor polymorphism, Pro15Ser, to schizophrenia.		601305	11503	2	2001	we detected a highly significant association of pro15ser to schizophrenia in a large population of japanese schizophrenia patients and controls. since case-control studies have an inherent potential for false-positive results due to population stratification, this finding is preliminary pending further studies, including studies using the transmission/disequilibrium test to eliminate stratification bias or control loci to assess ethnic matching of cases and controls.	Case:249 unrelated Japanese schizoprenic patients;Control:253 unrelated controls										
126886	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	5	5q31-q33	HTR4	147810787	148025489	P = 0.002	Ohtsuki T et al. 2002	12399948	four polymorphisms at or in close proximity to exon d, g.83097C/T (HTR4-SVR (splice variant region) SNP1), g.83159G/A (HTR4-SVRSNP2), g.83164 (T)9-10 (HTR4-SVRSNP3), and g.83198A/G (HTR4-SVRSNP4), showed significant association with bipolar disorder			5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1	Japanese	Japan	KGB	3360	Hs.483773			Molecular psychiatry. 2002 ;7(9):954-61	Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar Pedigrees.		602164	3337	1	2002	These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder.											
126887	Y	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q31-q33	HTR4	147810787	148025489		Suzuki T 2003	12898568				5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1	Japanese		KGB	3360	Hs.483773			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):13-Jul	Association of a haplotype in the serotonin 5-HT4 receptor gene (HTR4) with Japanese schizophrenia.		602164	3338	1	2003	These findings suggest that haplotype A-T itself may inhibit the occurrence of schizophrenia, or that another susceptible genetic variants may exist within linkage disequilibrium.	Case:189 unrelated Japanese schizophrenics;Control:299:controls										
126888	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	5	5q31-q33	HTR4	147810787	148025489		Ohtsuki, T.  et al. 2002	12399948				5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1	Japanese	Japan	CDC GDPinfo	3360	Hs.483773			Molecular psychiatry. 2002 ;7(9):954-61	Association between serotonin 4 receptor gene polymorphisms and bipolar disorder in Japanese case-control samples and the NIMH Genetics Initiative Bipolar Pedigrees		602164	11502	2	2002	These findings suggest that genomic variations in the HTR4 gene may confer susceptibility to mood disorder.											
126883		nausea; vomiting	OTHER	OTH	Neoplasms	11	11q23.1	HTR3B	113280798	113322493		Kaiser, R.  et al. 2004	15115912				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDPinfo	9177	Hs.241377			Pharmacogenetics. 2004 May;14(5):271-8	Investigation of the association between 5-HT3A receptor gene polymorphisms and efficiency of antiemetic treatment with 5-HT3 receptor antagonists.		604654	22294	2	2004	 Polymorphisms and haplotype analysis of the 5-HT3A receptor gene may not serve as a pharmacogenetic predictor of the antiemetic treatment with 5-HT3 receptor antagonists in cancer patients.	Cohort 242 cancer patients at their first day of chemotherapy 	antiemetic treatment									
126884	N	clozapine, response to	PSYCH	PSY	Schizophrenia	11	11q23.1	HTR3B	113280798	113322493		Gutierrez, B.  et al. 2002	12363396				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDPinfo	9177	Hs.241377			Schizophrenia research. 2002 Nov;58(1):93-7	Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response.		604654	22295	2	2002	Association analysis showed similar allele and genotype distributions among clozapine responders and nonresponders.These results make unlikely the possibility that 5-HT3A and 5-HT3B receptor genes underlie variation in clinical response to clozapine. However, the promoter regions of both genes have yet to be investigated.	Cohort 266 clozapine-treated patients 	clozapine									
126885	N	fibromyalgia	OTHER	OTH	Fibromyalgia|Genetic Predisposition to Disease	11	11q23.1	HTR3B	113280798	113322493		Frank, B.  et al. 2004	15293096				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDPinfo	9177	Hs.241377			Clinical rheumatology. 2004 Aug;23(4):338-44	Mutational analysis of serotonin receptor genes:HTR3A and HTR3B fibromyalgia patients		604654	22296	2	2004	Sequence variants of the serotonin subunit genes HTR3A and HTR3B indicate no obvious significance in aetiology of fibromyalgia, yet they represent the basis for on their pharmacogenetic relevance.	Cohort patients with fibromyalgia syndrome 										
126880		antiemetic treatment outcome	OTHER	OTH	Neoplasms|Vomiting	11	11q23.1	HTR3B	113280798	113322493		Tremblay, P. B.  et al. 2003	12775740				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3		Germany	CDC GDPinfo	9177	Hs.241377			Journal of clinical oncology. 2003 Jun;21(11):2147-55	Variations in the 5-Hydroxytryptamine Type 3B Receptor Gene as Predictors of the Efficacy of Antiemetic Treatment in Cancer Patients		604654	17606	2	2003	 A more efficient antiemetic treatment with 5-HT3 receptor antagonists might be possible on a pharmacogenetic basis. However, only a small fraction of the therapeutic failure is explained by the -AAG deletion variant of the 5-HT3B receptor gene. Additional clinical and biochemical studies are needed to confirm the association.	Cohort 242 cancer patients on their first day of chemotherapy 										
126881		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11q23.1	HTR3B	113280798	113322493		Frank, B.  et al. 2004	15389765				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDPinfo	9177	Hs.241377			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):5-Jan	Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients.		604654	17608	2	2004	We suggest that this deletion may influence translational efficiency, thereby possibly affecting the development of bipolar affective disease.	Case:49/78 patients suffering from bipolar affective disorder (n=49) and patients with schizophrenia (n=78);Control:62 control individuals										
126882		harm avoidance	PSYCH	PSY		11	11q23.1	HTR3B	113280798	113322493		Melke, J.  et al. 2003	14557147				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDPinfo	9177	Hs.241377			Archives of general psychiatry. 2003 Oct;60(10):1017-23	A Polymorphism in the Serotonin Receptor 3A (HTR3A) Gene and Its Association With Harm Avoidance in Women		604654	22293	2	2003	 The C178T polymorphism in the HTR3A gene may affect the personality trait of harm avoidance in women.	Cohort 195/175 two independent samples of 35- to 45-year-old Swedish women were recruited using the population register. Sample 1 (n = 195) was assessed via the Karolinska Scales of Personality and the Temperament and Character Inventory; sample 2 (n = 175) 										
126877	Y	hormone disturbance	METABOLIC	MET		11	11q23.1	HTR3A	113351119	113366244		Jonsson, E. G.  et al. 2004	15102340				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			BMC psychiatry [electronic resource]. 2004 Mar;4:4	Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.		182139	26236	2	2004	 The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.	Cohort 90 healthy volunteers 										
126878	N	clozapine response	PSYCH	PSY	Schizophrenia	11	11q23.1	HTR3B	113280798	113322493	n	Gutierrez B et al. 2002	12363396				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			KGB	9177	Hs.241377			Schizophrenia research. 2002 Nov;58(1):93-7	Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response.		604654	6615	1	2002	Association analysis showed similar allele and genotype distributions among clozapine responders and nonresponders.These results make unlikely the possibility that 5-HT3A and 5-HT3B receptor genes underlie variation in clinical response to clozapine. However, the promoter regions of both genes have yet to be investigated.	Cohort 266 clozapine-treated patients	clozapine									
126879	N	clozapine response	PSYCH	PSY	Schizophrenia	11	11q23.1	HTR3B	113280798	113322493	n	Gutierrez B et al. 2002	12363396				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			KGB	9177	Hs.241377			Schizophrenia research. 2002 Nov;58(1):93-7	Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response.		604654	6616	1	2002	Association analysis showed similar allele and genotype distributions among clozapine responders and nonresponders.These results make unlikely the possibility that 5-HT3A and 5-HT3B receptor genes underlie variation in clinical response to clozapine. However, the promoter regions of both genes have yet to be investigated.	Cohort 266 clozapine-treated patients	clozapine									
126874		brain activity	NEUROLOGICAL	NEUR		11	11q23.1	HTR3A	113351119	113366244		Iidaka, T.  et al. 2005	16000636				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			The Journal of neuroscience. 2005 Jul;25(27):6460-6	A variant C178T in the regulatory region of the serotonin receptor gene HTR3A modulates neural activation in the human amygdala.		182139	17604	2	2005												
126875	N	clozapine, response to	PSYCH	PSY	Schizophrenia	11	11q23.1	HTR3A	113351119	113366244		Gutierrez, B.  et al. 2002	12363396				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Schizophrenia research. 2002 Nov;58(1):93-7	Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response.		182139	17605	2	2002	Association analysis showed similar allele and genotype distributions among clozapine responders and nonresponders.These results make unlikely the possibility that 5-HT3A and 5-HT3B receptor genes underlie variation in clinical response to clozapine. However, the promoter regions of both genes have yet to be investigated.	Cohort 266 clozapine-treated patients 	clozapine									
126876	N	fibromyalgia	OTHER	OTH	Fibromyalgia|Genetic Predisposition to Disease	11	11q23.1	HTR3A	113351119	113366244		Frank, B.  et al. 2004	15293096				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Clinical rheumatology. 2004 Aug;23(4):338-44	Mutational analysis of serotonin receptor genes:HTR3A and HTR3B fibromyalgia patients		182139	17607	2	2004	Sequence variants of the serotonin subunit genes HTR3A and HTR3B indicate no obvious significance in aetiology of fibromyalgia, yet they represent the basis for on their pharmacogenetic relevance.	Cohort patients with fibromyalgia syndrome 										
126871	N	nausea; vomiting	OTHER	OTH	Neoplasms	11	11q23.1	HTR3A	113351119	113366244		Kaiser, R.  et al. 2004	15115912				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Pharmacogenetics. 2004 May;14(5):271-8	Investigation of the association between 5-HT3A receptor gene polymorphisms and efficiency of antiemetic treatment with 5-HT3 receptor antagonists.		182139	11501	2	2004	 Polymorphisms and haplotype analysis of the 5-HT3A receptor gene may not serve as a pharmacogenetic predictor of the antiemetic treatment with 5-HT3 receptor antagonists in cancer patients.	Cohort 242 cancer patients at their first day of chemotherapy 	antiemetic treatment									
126872	N	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11q23.1	HTR3A	113351119	113366244		Niesler, B.  et al. 2001	11207027				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Pharmacogenetics. 2001 Feb;11(1):21-7	Serotonin receptor gene HTR3A variants in schizophrenic and bipolar affective patients		182139	17602	2	2001	These results suggest that the observed mutations in HTR3A are rare and therefore do not play a major role in the aetiology of the disorder. Further studies are needed to support the hypothesis that HTR3A may contribute to the schizophrenia in these patients.	Control:155 control individuals;Case:358 schizophrenic patients										
126873	Y	bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	11	11q23.1	HTR3A	113351119	113366244		Niesler, B.  et al. 2001	11505217			promoter	5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Pharmacogenetics. 2001 Aug;11(6):471-5	Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder.		182139	17603	2	2001	These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder.	Case:156 patients with bipolar affective disorder;Control:156 healthy controls										
126868	N	clozapine response	PSYCH	PSY	Schizophrenia	11	11q23.1	HTR3A	113351119	113366244	n	Gutierrez B et al. 2002	12363396				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			KGB	3359	Hs.413899			Schizophrenia research. 2002 Nov;58(1):93-7	Novel mutations in 5-HT3A and 5-HT3B receptor genes not associated with clozapine response.		182139	3336	1	2002	Association analysis showed similar allele and genotype distributions among clozapine responders and nonresponders.These results make unlikely the possibility that 5-HT3A and 5-HT3B receptor genes underlie variation in clinical response to clozapine. However, the promoter regions of both genes have yet to be investigated.	Cohort 266 clozapine-treated patients	clozapine									
126869	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11q23.1	HTR3A	113351119	113366244		Niesler B et al. 2001	11505217				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			KGB	3359	Hs.413899			Pharmacogenetics. 2001 Aug;11(6):471-5	Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder.		182139	8127	1	2001	These findings show that the C178T(Pro16Ser) variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder.	Case:156 patients with bipolar affective disorder;Control:156 healthy controls										
126870		harm avoidance	PSYCH	PSY		11	11q23.1	HTR3A	113351119	113366244		Melke, J.  et al. 2003	14557147				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDPinfo	3359	Hs.413899			Archives of general psychiatry. 2003 Oct;60(10):1017-23	A Polymorphism in the Serotonin Receptor 3A (HTR3A) Gene and Its Association With Harm Avoidance in Women		182139	11500	2	2003	 The C178T polymorphism in the HTR3A gene may affect the personality trait of harm avoidance in women.	Cohort 195/175 two independent samples of 35- to 45-year-old Swedish women were recruited using the population register. Sample 1 (n = 195) was assessed via the Karolinska Scales of Personality and the Temperament and Character Inventory; sample 2 (n = 175) 										
126865	N	suicide	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		312861	27000	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126866	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xq24	HTR2C	113724806	114050880		Bobb, A. J.  et al. 2005	15717291				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		312861	28058	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
126867		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	X	Xq24	HTR2C	113724806	114050880		Dick, D. M.  et al. 2003	12766633				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		312861	28288	2	2003	Review article											
126862		depressive disorder, major	PSYCH	PSY	Depressive Disorder	X	Xq24	HTR2C	113724806	114050880		Peters, E. J.  et al. 2004	15052272				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		312861	24897	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
126863	N	self-harm behavior	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Pooley, E. C.  et al. 2003	12877392				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		312861	24898	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126864		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	X	Xq24	HTR2C	113724806	114050880		Koks, S.  et al. 2005	15927089				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			The international journal of neuropsychopharmacology. 2005	Analysis of SNP profiles in patients with major depressive disorder.		312861	26235	2	2005	Altogether we were able to find some nominal associations, but due to small sample size these results should be taken as exploratory. However, the effect of GAGT haplotype on the CCKAR gene may be considered as increasing the risk for MDD.	Control:160 healthy controls;Case:177 patients with major depressive disorder										
126859		hormone disturbance	METABOLIC	MET		X	Xq24	HTR2C	113724806	114050880		Jonsson, E. G.  et al. 2004	15102340				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			BMC psychiatry [electronic resource]. 2004 Mar;4:4	Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.		312861	24894	2	2004	 The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.	Cohort 90 healthy volunteers 										
126860	N	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	X	Xq24	HTR2C	113724806	114050880		Racchi, M.  et al. 2004	15109354				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Headache. 2004 Apr;44(4):311-7	Familial migraine with aura: association study with5-HT1B/1D, 5-HT2C, and hSERT polymorphisms.		312861	24895	2	2004	 Our data do not support the involvement of 5-HT(1B/1D) and 5-HT(2C) receptor gene polymorphisms in migraine with aura, yet do suggest a possible role for a locus at or near the hSERT gene in the susceptibility to migraine with aura.	Control:controls;Case individuals from 18 unrelated families with multiple affected members										
126861		panic disorder	PSYCH	PSY	Panic Disorder	X	Xq24	HTR2C	113724806	114050880		Inada, Y.  et al. 2003	12759158				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychiatry research. 2003 May;118(1):25-31	Positive association between panic disorder and polymorphism of the serotonin 2A receptor gene		312861	24896	2	2003	The study showed a positive association between panic disorder and the HTR2A gene, suggesting that HTR2A plays an important role in the pathogenesis of panic disorder.	Control:100 biologically unrelated normal controls;Case:63 biologically unrelated patients with panic disorder western area of Japan										
126856	N	seasonal affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Seasonal Affective Disorder	X	Xq24	HTR2C	113724806	114050880		Johansson, C.  et al. 2001	11300730				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Neurobiology of disease. 2001 Apr;8(2):351-7	Seasonal affective disorder and serotonin-related polymorphisms.		312861	22290	2	2001	Although minor effects cannot be excluded, our results suggest that these polymorphisms do not play a major role in the pathogenesis of SAD in the northern European population.	Case:82 seaseonal affective disorder patients Sweden, Finland, and Germany;Control:82 healthy controls Sweden, Finland, and Germany										
126857		Alzheimer's disease; anxiety disorder; depression; psychoses; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease	X	Xq24	HTR2C	113724806	114050880		Assal, F.  et al. 2004	15313842				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Archives of neurology. 2004 Aug;61(8):1249-53	Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease.		312861	22291	2	2004	 The 5-HT2A receptor polymorphism may contribute to the expression of psychosis and agitation/aggression in patients with Alzheimer disease. Absence of other positive associations may be due to the relatively small sample size and/or potentially small effect size of the polymorphisms and requires further study.	Cohort 96 patients with Alzheimer's diases California 										
126858		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Antisocial Personality Disorder	X	Xq24	HTR2C	113724806	114050880		Parsian, A.  et al. 2001	11525423				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychiatric genetics. 2001 Jun;11(2):89-94	Serotonergic pathway genes and subtypes of alcoholism: association studies.		312861	22292	2	2001	These data indicate that the genes in the serotonergic pathway may be involved in the development of type II alcoholism but the gene effects are very small.	Case sample of alcoholics;Control normal controls										
126853		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xq24	HTR2C	113724806	114050880		Gorwood, P.  et al. 2004	15581469				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Med Sci (Paris). 2004 Dec;20(12):1132-8	[Alcohol dependence and polymorphisms of serotonin-related genes]		312861	22287	2	2004	Genes involved in the transmission, reuptake and metabolism of serotonin constitute a set of candidate genes that could be involved in core aspects of alcoholism, such as the tendency to prefer immediate reward, despite negative consequences.											
126854		anorexia nervosa; bulimia	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Tozzi, F.  et al. 2002	12473966				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychopharmacology bulletin. 2002 ;36(3):60-90	Candidate gene studies in eating disorders.		312861	22288	2	2002	Review article											
126855		depression	PSYCH	PSY	Genetic Predisposition to Disease	X	Xq24	HTR2C	113724806	114050880		Eley, T. C.  et al. 2004	15241435				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Molecular psychiatry. 2004 Oct;9(10):908-15	Gene-environment interaction analysis of serotonin system markers with adolescent depression.		312861	22289	2	2004	HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.	Cohort 377 adolescents selected from 1990 adolescents aged 10-20 years 										
126850		schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Reynolds, G. P.  et al. 2005	15695058				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			European neuropsychopharmacology. 2005 Mar;15(2):143-51	Pharmacogenetics of treatment in first-episode schizophrenia: D3 and 5-HT2C receptor polymorphismsseparately associate with positive and negative symptom response.		312861	22284	2	2005	The D2 polymorphism was found not to be significantly associated with baseline levels or changes in total PANSS in these patients. The D3 genotype is associated with the change in total PANSS (p<0.01), an effect reflecting positive and general (each p<0.0	Cohort 117 schizophrenic patients 	antipsychotic drug									
126851		schizophrenia	PSYCH	PSY	Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Ellingrod, V. L.  et al. 2002	12454564				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Journal of clinical psychopharmacology. 2002 Dec;22(6):622-4	5HT2A and 5HT2C receptor polymorphisms and predicting clinical response to olanzapine in schizophrenia		312861	22285	2	2002	This study is the first to investigate a relationship between 5HT2A/2C receptor polymorphisms, serum olanzapine concentrations, and clinical response, and supports a potential relationship between serotonin receptor polymorphisms and negative symptom response in schizophrenia. These results have important implications for the inclusion of genetic factors in clinical schizophrenia research. Due to the relatively small sample size and relatively brief olanzapine response and polymorphisms of the 5HT2A/2C receptor alleles need to be replicated in a larger sample.	Cohort 41 subjects with schizophrenia 	olanzapine									
126852		sleep disorders; body mass	OTHER	OTH	Sleep Apnea, Obstructive	X	Xq24	HTR2C	113724806	114050880		Sakai, K.  et al. 2005	16258205				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Japanese	Japan	CDC GDPinfo	3358	Hs.149037			Internal medicine (Tokyo, Japan). 2005 Sep;44(9):928-33	Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea.		312861	22286	2	2005	 These results indicate that age and BMI, not these polymorphisms, are associated with OSA in this population.											
126847	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xq24	HTR2C	113724806	114050880		Mottagui-Tabar, S.  et al. 2004	15304380			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Sep-Oct;39(5):380-5	Analysis of 5-hydroxytryptamine 2c receptor gene promoter variants as alcohol-dependence risk factors.		312861	17598	2	2004	 Although we report a lack of association between alcohol dependence and five common promoter polymorphisms, and the constituted haplotypes, the analysis tends to indicate gender and sub-type differences. We suggest that a follow up study with larger sample numbers should be performed to improve the power to detect the genetic influences of HTR2C in alcohol dependence.	Case:309/127;Control:83/190										
126848	Y	body weight; seasonal affective disorder	METABOLIC	MET	Body Weight|Weight Gain|Seasonal Affective Disorder	X	Xq24	HTR2C	113724806	114050880		Praschak-Rieder, N.  et al. 2005	16157158				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Journal of psychiatric research. 2005 Nov;39(6):561-7	A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in females with seasonal affective disorder: anAustrian-Canadian collaborative study.		312861	17601	2	2005												
126849	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Akathisia, Drug-Induced|Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Segman, R. H.  et al. 2000	11140333				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychopharmacology. 2000 Nov;152(4):408-13	Association between the serotonin 2C receptor gene and tardive dyskinesia in chronic schizophrenia:additive contribution of 5-HT2Cser and DRD3gly alleles to susceptibility.		312861	22283	2	2000	 These findings support a small but significant contribution of the HT2CR and DRD3 to susceptibility to TD, which is additive in nature.	Case:55 schizophrenic patients with tardive dyskinesia;Control:60/97 schizophrenic patients without tardive dyskinesia (n=60) and normal control subjects (n=97)										
126844		bipolar affective disorder	PSYCH	PSY	Bipolar Disorder	X	Xq24	HTR2C	113724806	114050880		Gutierrez, B.  et al. 2001	11502363			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Neuroscience letters. 2001 Aug;309(2):135-7	Association study between novel promoter variants at the 5-HT2C receptor gene and human patients with bipolar affective disorder.		312861	17592	2	2001	A haplotype analyses between the (GT)12-18/(CT)4-5 motif and a Cys23Ser variant of the 5-HT2C gene (which had previously been genotyped in the same sample) showed similar distributions between cases and controls.	Control:162 controls of Spanish origin;Case:88 bipolar patients of Spanish origin										
126845	N	cortisol; ACTH; m-chlorophenypiperazine; prolactin	METABOLIC	MET		X	Xq24	HTR2C	113724806	114050880		Kuhn, K. U.  et al. 2002	12518270				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Pharmacopsychiatry. 2002 Nov;35(6):226-30	Allelic variants of the serotonin(2C) receptor and neuroendocrinological responses to the serotonin(2C) receptor agonist m-chlorophenylpiperazine in healthy male volunteers		312861	17594	2	2002	The 5-HT 2C polymorphism contributed little to the variation of the scores regarding hormonal responses of ACTH, cortisol and prolactin to the m-CPP challenge. The group carrying the rare 5-HT 2C -ser-23 receptor gene showed a faster and stronger but not statistically significant ACTH response to the challenge. However, it is noteworthy that there is a 'medium' effect size of the ACTH response according to the conventions of Cohen, and thus comparable to other studies. Both groups show similar major scores in the Temperament and Character Inventory (TCI).	Cohort 32 healthy male volunteers 	m-Chlorophenypiperazine									
126846		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	X	Xq24	HTR2C	113724806	114050880		Holmes, C.  et al. 2003	12707936				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 May;119(1):40-3	Depression in Alzheimer's disease: the effect ofserotonin receptor gene variation.		312861	17595	2	2003	We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE varepsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE varepsilon 4 alone.	Cohort 158 patients with late onset Alzheimer's disease 										
126841	N	suicide	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Stefulj, J.  et al. 2004	15309390				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	German		CDC GDPinfo	3358	Hs.149037			European archives of psychiatry and clinical neuroscience. 2004 Aug;254(4):224-7	5HT-2C receptor polymorphism in suicide victims. Association studies in German and Slavic populations.		312861	11496	2	2004	Results did not provide supporting evidence for the potential involvement of the investigated variants of 5HT-2C receptor in the susceptibility to suicide.	Case:118 Slavic/Croatian suicide victims;Control:275 Slavic/Croatian controls;Case:284 German suicide victims;Control:297 German controls										
126842	Y	weight gain	METABOLIC	MET	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Miller, D. D.  et al. 2005	15635667	(- 759C/T)			5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):97-100	Clozapine-induced weight gain associated with the 5HT2C receptor -759C/T polymorphism.		312861	11498	2	2005	Subjects without the -759T variant allele were at a greater risk for weight gain from clozapine over 6-months compared to those with the -759T allele.	Cohort 41 patients with treatment-refractory schizophrenia (DSM-IV) who were followed prospectively during treatment with clozapine 	clozapine									
126843	N	slow wave sleep	NEUROLOGICAL	NEUR		X	Xq24	HTR2C	113724806	114050880		Sharpley, A. L.  et al. 2001	11205431				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychopharmacology. 2001 Jan;153(2):271-2	Allelic variation in the 5-HT2C receptor (HT2RC) and the increase in slow wave sleep produced by olanzapine.		312861	17591	2	2001	Our results do not support the proposal that the functional consequences of 5-HT2c receptor blockade differ according to 5-HT2c receptor genotype.	Cohort 24 Two groups of health male volunteers- 12 who possessed cystein substituted 5HT2c receptors, 12 who possessed serine 5HT2c receptors 	olanzapine									
126838	Y	schizophrenia	METABOLIC	MET	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Zhang, Z.  et al. 2002	12425817				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Chinese		CDC GDPinfo	3358	Hs.149037			Zhonghua yi xue za zhi. 2002 Aug;82(16):1097-101	[Association of antipsychotic agent-induced weight gain with a polymorphism of the promotor region of the 5-HT2C receptor gene]		312861	11491	2	2002	 The 5-HT2C-receptor gene -759C/T polymorphism is associated with APS-induced weight gain. 759C-->T may be a protective factor for the development of weight gain in Chinese schizophrenic patients of Han nationality.	Cohort 117 Chinese first-episode patients of Han nationality with schizophrenia 										
126839	Y	obesity	METABOLIC	MET	Obesity|Body Weight|Weight Loss	X	Xq24	HTR2C	113724806	114050880		Pooley, E. C.  et al. 2004	15048662	(- 759C/T)		promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):124-7	A 5-HT2C receptor promoter polymorphism (HTR2C - 759C/T) is associated with obesity in women, and with resistance to weight loss in heterozygotes		312861	11494	2	2004	Our data extend the evidence that HTR2C promoter variation may be a risk factor for obesity and, perhaps through heterosis, influences weight loss by obese women. Pharmacogenetic testing of HTR2C promoter variants may be valuable when evaluating anti-obesity drugs which act directly or indirectly on the receptor.	Control:104 non-obese women (BMI < or = 25), local Caucasian:population Southern England;Case:120 obese women (BMI > or = 30), local Caucasian:population Southern England:Cohort:95 obese women	psychological treament									
126840	N	schizophrenia; diabetes	PSYCH	PSY	Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Ellingrod, V. L.  et al. 2004	15167695	(- 759C/T)			5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Psychiatric genetics. 2004 Jun;14(2):93-5	Distribution of the serotonin 2C (5HT2C) receptor gene -759C/T polymorphism in patients with schizophrenia and normal controls		312861	11495	2	2004	 Patients with schizophrenia have a higher risk for developing diabetes than the general population. We did not find a higher distribution of the -759T allele of the 5HT2C receptor in normal controls compared with in patients with schizophrenia. This suggests the higher prevalence of diabetes in schizophrenia is not due to this polymorphism.	Case:100 patients with schizophrenia;Control:81 normal controls										
126835		weight loss	OTHER	OTH	Weight Loss	X	Xq24	HTR2C	113724806	114050880		Westberg, L.  et al. 2002	12007749				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Neuropsychopharmacology. 2002 Jun;26(6):789-93	Association between a polymorphism of the 5-HT2C receptor and weight loss in teenage girls.		312861	11488	2	2002	The results support the notion that the studied gene may be involved in the regulation of food intake in young women.	Case:58 somatically healthy teenage girls displaying weight loss, all recruited by means of a population-based screening study;Control:91 normal-weight girls of the same age, all recruited by means of a population-based screening study										
126836	Y	weight gain, antipsychotic drug-induced	METABOLIC	MET	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Reynolds, G. P.  et al. 2002	12086765				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Lancet. 2002 Jun;359(9323):2086-7	Association of antipsychotic drug-induced weight gain with a 5-HT2C receptor gene polymorphism.		312861	11489	2	2002	We have identified a genetic factor that is associated with antipsychotic drug-induced weight gain.	Cohort first-episode schizophrenic patients 										
126837	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Zhang, Z. J.  et al. 2002	12192608			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDPinfo	3358	Hs.149037			Molecular psychiatry. 2002 ;7(7):670-1	Association of a polymorphism in the promoter region of the serotonin 5-HT2C receptor gene with tardive dyskinesia in patients with schizophrenia.		312861	11490	2	2002	Although the exact functional importance of the -697 G to C sutbstitution is unclear, its contribution to an increase in receptor expression may lead to a hyperfuntion of 5-HT neurotransmission through the 5-HT2C receptor, resulting in an elevated susceptibility to dyskinesia.	Case:42 hospitalized male Chinese Han patients meeting DSM-IV criteria for schizophrenia with persistent tardive dyskinesia;Control:50 hospitalized male Chinese Han patients meeting DSM-IV criteria for schizophrenia consistently without dyskinesias										
126831	N	mood disorders	PSYCH	PSY	Mood Disorders	X	Xq24	HTR2C	113724806	114050880	n	Serretti A et al. 2000	10893489			coding sequence	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Italian (Caucasian)		Serretti	3358	Hs.149037			American journal of medical genetics. 2000 Apr;96(2):161-6	Serotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disordersSerotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disordersSerotonin-2c and serotonin-1a rec		312861	3332	1	2000		Case:BP: 72; MDD: 12										
126833	N	Deliberate self-harm	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880	n	Pooley EC 2003	12877392	Cys23Ser			5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		312861	3334	1	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126834		obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	X	Xq24	HTR2C	113724806	114050880		Yuan X et al. 2000	10768099			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Diabetologia. 2000 Mar;43(3):373-6	Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and type II diabetes.		312861	3335	1	2000	The haplotypes containing the nucleotide substitutions could be associated with higher transcription levels of the gene and thereby with resistance to obesity and Type II diabetes											
126827		obesity	METABOLIC	MET	Obesity|Body Weight	X	Xq24	HTR2C	113724806	114050880		Lentes KU et al. 1997	9200673				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Life sciences. 1997 ;61(1):PL9-16	Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an association of the mutant allele with obesity or underweight in children adolescents and young adults.		312861	3328	1	1997												
126828	Y	clozapine response	PSYCH	PSY	Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Sodhi MS et al. 1995	8742444				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Neuroreport. 1995 Dec;7(1):169-72	Association between clozapine response and allelic variation in the 5-HT2C receptor gene.		312861	3329	1	1995												
126830	N	mood disorders	PSYCH	PSY	Mood Disorders	X	Xq24	HTR2C	113724806	114050880	n	Serretti A et al. 2000	10893489			coding sequence	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Italian (Caucasian)		Serretti	3358	Hs.149037			American journal of medical genetics. 2000 Apr;96(2):161-6	Serotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disordersSerotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disordersSerotonin-2c and serotonin-1a rec		312861	3331	1	2000		Case:BP: 72; MDD: 12										
126824		alcohol dependence, panic disorder without agoraphobia, generalized anxiety disorder, narcolepsy	PSYCH	PSY	Narcolepsy|Alcoholism|Mental Disorders|Anxiety Disorders|Panic Disorder	X	Xq24	HTR2C	113724806	114050880		Fehr C et al. 2000	10994642				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Psychiatric genetics. 2000 Jun;10(2):59-65	Sex differences in allelic frequencies of the 5-HT2C Cys23Ser polymorphism in psychiatric patients and healthy volunteers: findings from an association study.		312861	3325	1	2000												
126825	Y	weight gain (antipsychotic-drug induced)	METABOLIC	MET	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Reynolds GP et al. 2002	12086765	-759C/T		5'promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Chinese Han Schizophrenics		KGB	3358	Hs.149037			Lancet. 2002 Jun;359(9323):2086-7	Association of antipsychotic drug-induced weight gain with a 5-HT2C receptor gene polymorphism.		312861	3326	1	2002	We have identified a genetic factor that is associated with antipsychotic drug-induced weight gain.	Cohort first-episode schizophrenic patients										
126826		bipolar affective disorder.	PSYCH	PSY	Bipolar Disorder	X	Xq24	HTR2C	113724806	114050880		Gutierrez B et al. 2001	11502363			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Neuroscience letters. 2001 Aug;309(2):135-7	Association study between novel promoter variants at the 5-HT2C receptor gene and human patients with bipolar affective disorder.		312861	3327	1	2001	A haplotype analyses between the (GT)12-18/(CT)4-5 motif and a Cys23Ser variant of the 5-HT2C gene (which had previously been genotyped in the same sample) showed similar distributions between cases and controls.	Control:162 controls of Spanish origin;Case:88 bipolar patients of Spanish origin										
126821	N	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	X	Xq24	HTR2C	113724806	114050880	n	Cavallini MC et al. 1998	9541145	CYS23/SER23			5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Psychiatry research. 1998 Feb;77(2):97-104	5HT2C CYS23/SER23 polymorphism is not associated with obsessive-compulsive disorder.		312861	3322	1	1998												
126822	Y	weight loss	OTHER	OTH	Weight Loss	X	Xq24	HTR2C	113724806	114050880		Westberg L et al. 2002	12007749				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	teenage girls		KGB	3358	Hs.149037			Neuropsychopharmacology. 2002 Jun;26(6):789-93	Association between a polymorphism of the 5-HT2C receptor and weight loss in teenage girls.		312861	3323	1	2002	The results support the notion that the studied gene may be involved in the regulation of food intake in young women.	Case:58 somatically healthy teenage girls displaying weight loss, all recruited by means of a population-based screening study;Control:91 normal-weight girls of the same age, all recruited by means of a population-based screening study										
126823	Y	antipsychotic agent-induced weight gain	METABOLIC	MET	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Zhang Z et al. 2002	12425817				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Zhonghua yi xue za zhi. 2002 Aug;82(16):1097-101	Association of antipsychotic agent-induced weight gain with a polymorphism of the promotor region of the 5-HT2C receptor gene		312861	3324	1	2002	 The 5-HT2C-receptor gene -759C/T polymorphism is associated with APS-induced weight gain. 759C-->T may be a protective factor for the development of weight gain in Chinese schizophrenic patients of Han nationality.	Cohort 117 Chinese first-episode patients of Han nationality with schizophrenia										
126818	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq24	HTR2C	113724806	114050880	n	Meyer J et al. 2002	12111480			promoter	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			J Neural Transm. 2002 May;109(6-May):939-46	Evolutionary conserved microsatellites in the promoter region of the 5-hydroxytryptamine receptor 2C gene (HTR2C) are not associated with bipolar disorder in females.		312861	3319	1	2002												
126819	Y	schizophrenia	NEUROLOGICAL	NEUR	Akathisia, Drug-Induced|Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Segman RH et al. 2000	11140333				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Psychopharmacology. 2000 Nov;152(4):408-13	Association between the serotonin 2C receptor gene and tardive dyskinesia in chronic schizophrenia: additive contribution of 5-HT2Cser and DRD3gly alleles to susceptibility.		312861	3320	1	2000	 These findings support a small but significant contribution of the HT2CR and DRD3 to susceptibility to TD, which is additive in nature.	Case:55 schizophrenic patients with tardive dyskinesia;Control:60/97 schizophrenic patients without tardive dyskinesia (n=60) and normal control subjects (n=97)										
126820		bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq24	HTR2C	113724806	114050880		Gutierrez B et al. 1996	8823764				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			Neuroscience letters. 1996 Jul;212(1):65-7	Allelic association analysis of the 5-HT2C receptor gene in bipolar affective disorder.		312861	3321	1	1996												
126814		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	13	13q14-q21	HTR2A	46305513	46368995		Wieczorek, S.  et al. 2004	15309313				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of molecular medicine (Berlin, Germany). 2004 Oct;82(10):696-705	Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.		182135	26999	2	2004	These results, although exploratory and still to be confirmed in independent samples, support a complex pathogenetic model for narcolepsy, including disturbances of neurotransmission rather than involvement of autoimmunity.	Cohort 254 narcolepsy subjects 										
126815	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Bobb, A. J.  et al. 2005	15717291				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		182135	27930	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
126816		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Dick, D. M.  et al. 2003	12766633				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		182135	28226	2	2003	Review article											
126811		nicotine dependence; cotinine	CHEMDEPENDENCY	CHEM		13	13q14-q21	HTR2A	46305513	46368995		Huang, S.  et al. 2005	16272956				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Pharmacogenetics and genomics. 2005 Dec;15(12):839-50	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.		182135	26232	2	2005	 CYP2A6 haploinsufficiency increases likelihood of continuing smoking in teenagers. We hypothesize an explanatory 'occupancy' model to explain why haploinsufficiency results in faster progression to nicotine dependence, but lower subsequent consumption.											
126812	N	bipolar disorder; major depressive disorder; rapid cycling mood disorder	PSYCH	PSY	Mood Disorders	13	13q14-q21	HTR2A	46305513	46368995		Cusin, C.  et al. 2002	11992560				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.		182135	26233	2	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
126813		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Lattuada, E.  et al. 2004	15383158				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The international journal of neuropsychopharmacology. 2004 Dec;7(4):489-93	Tardive dyskinesia and DRD2, DRD3, DRD4, 5-HT2A variants in schizophrenia: an association studywith repeated assessment.		182135	26234	2	2004	We did not observe any significant association for the DRD2 and DRD3 polymorphisms.	Cohort 84 patients with residual schizophrenia 										
126808		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Hong, C. J.  et al. 2005	16302021				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		CDC GDPinfo	3356	Hs.72630			The pharmacogenomics journal. 2006 Jan-Feb;6(1):27-33	Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder.		182135	24892	2	2005			fluoxetine									
126809		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Hemmings, S. M.  et al. 2003	12650952				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European neuropsychopharmacology. 2003 Mar;13(2):93-8	Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.		182135	24893	2	2003	Although no statistically significant genotypic or allelic associations were detected, the data yielded interesting preliminary results that warrant further discussion and investigation.	Control:129 control individuals;Case:71 obsessive compulsive disorder patients in the genetically homogeneous Afrikaner population										
126810		asthma; lipids; memory impairment	IMMUNE	IMM		13	13q14-q21	HTR2A	46305513	46368995		Hamdy, I.  et al. 2002	11956670				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European journal of clinical pharmacology. 2002 Apr;58(1):29-36	Allele and genotype frequencies of polymorphic DCP1, CETP, ADRB2, and HTR2A in the Egyptian population.		182135	26231	2	2002	 We have explored the frequencies of important allelic variants DCP1, CETP, ADRB2, and HTR2A among the Egyptian population focusing on the ethnic diversity in the distribution of the tested mutant alleles. Our results may help in better understanding the observed ethnic variation in angiotensin-converting enzyme inhibition and atherosclerosis therapy. It also may contribute to better characterization of interethnic differences in isoprenaline and clozapine response, which will have implications for the cost effective and rational prescribing of these drugs.	Cohort 242 urelated individuals in the Egyptian population 										
126805	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	13	13q14-q21	HTR2A	46305513	46368995		Li, T.  et al. 2002	11920858				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese	China	CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		182135	24889	2	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
126806		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Zhang, M.  et al. 2003	12579508				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		CDC GDPinfo	3356	Hs.72630			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):69-71	[Associations between six functional genes and schizophrenia]		182135	24890	2	2003	 The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.	Control:controls;Case:67 Chinese Han schizophrenic patients										
126807		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995			16281377				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(10):35-41	[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives]		182135	24891	2	2005												
126802		depressive disorder, major	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Peters, E. J.  et al. 2004	15052272				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		182135	22281	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
126803	N	self-harm behavior	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Pooley, E. C.  et al. 2003	12877392				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182135	22282	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126804		schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Yamanouchi, Y.  et al. 2003	14610521				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		CDC GDPinfo	3356	Hs.72630			The pharmacogenomics journal. 2003 ;3(6):356-61	Effect of DRD2, 5-HT2A, and COMT genes on antipsychotic response to risperidone.		182135	24888	2	2003	These results should be treated with caution because of limitations due to small sample size, heterogeneity of patients with respect to past antipsychotic use history, and no correction for multiple corrections. However, the present findings generate important hypotheses in a sample of Japanese schizophrenia patients that may lay the foundation for future pharmacogenomics investigations in other populations.	Cohort 73 Japanese patients with schizophrenia 	risperidone									
126799		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Lane, H. Y.  et al. 2004	15140279				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The international journal of neuropsychopharmacology. 2004 Dec;7(4):461-70	Effects of dopamine D2 receptor Ser311Cys polymorphism and clinical factors on risperidone efficacy for positive and negative symptoms and social function.		182135	22278	2	2004	The preliminary results suggest that variations in the DRD2 gene influence risperidone treatment response for positive, negative, and cognitive symptoms, general psychopathology, and social functioning. Several clinical factors may also contribute to inter-individual differences in risperidone treatment response.	Cohort 123 Han Chinese patients with acutely exacerbated schizophrenia 	risperidone									
126800	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Baritaki, S.  et al. 2004	15083167				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European journal of human genetics. 2004 Jul;12(7):535-41	Association between schizophrenia and DRD3 or HTR2 receptor gene variants		182135	22279	2	2004	In conclusion, from genetic association analysis of this schizophrenic population, a significant association is clearly determined between the HTR2 genetic polymorphism and the presence of schizophrenic disorder, manifested as increased risk of schizophrenia for carriers of the T-102 allele.	Case:114 hospitalized schizophrenics:Greece;Control:192:controls										
126801	Y	panic disorder	PSYCH	PSY	Panic Disorder	13	13q14-q21	HTR2A	46305513	46368995		Inada, Y.  et al. 2003	12759158				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatry research. 2003 May;118(1):25-31	Positive association between panic disorder and polymorphism of the serotonin 2A receptor gene		182135	22280	2	2003	The study showed a positive association between panic disorder and the HTR2A gene, suggesting that HTR2A plays an important role in the pathogenesis of panic disorder.	Control:100 biologically unrelated normal controls;Case:63 biologically unrelated patients with panic disorder western area of Japan										
126796		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Meira-Lima, I.  et al. 2004	15005715				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Genes, brain, and behavior. 2004 Apr;3(2):75-9	Association analysis of the catechol-o-methyltransferase (COMT), serotonin transporter (5-HTT) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive-compulsive disorder.		182135	22275	2	2004	The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample. However, further studies using larger samples and family based methods are recommended to confirm these findings.	Control:202:controls;Case:79 obsessive compulsive disorder patients										
126797		depressive disorder, major	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Murphy, G. M. = Jr et al. 2003	14514498				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The American journal of psychiatry. 2003 Oct;160(10):1830-5	Pharmacogenetics of antidepressant medication intolerance.		182135	22276	2	2003	 Pharmacodynamic differences among patients due to variant 5-HT(2A) receptors appear to be more important than pharmacokinetic variation in determining paroxetine intolerance. Pharmacogenetic markers may be useful in predicting antidepressant treatment outcome.	Cohort 246 elderly patients with major depression 	mirtazapine paroxetine									
126798		panic disorder	PSYCH	PSY	Panic Disorder|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Maron, E.  et al. 2005	15722953				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2005 Mar;15(1):17-24	Association study of 90 candidate gene polymorphisms in panic disorder.		182135	22277	2	2005	 The study results suggest that genetic variants of several candidate genes of neurotransmitter systems, each of a minor individual effect, may contribute to the susceptibility to PD. Our data also indicate that genetic variability may have a distinctive influence on pure and comorbid phenotypes of PD.	Case:127 patients with panic disorder;Control:146 healthy controls										
126793		hypertension	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Hypertension	13	13q14-q21	HTR2A	46305513	46368995		Terajima, S.  et al. 2005	15915764				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese	Japan	CDC GDPinfo	3356	Hs.72630			Rinsho byori The Japanese journal of clinical pathology. 2005 Apr;53(4):290-6	[Relationship between of carotid ultrasonography in Japanese hypertensive subjects for intima-media thickness and plaque, and candidate gene polymorphism--possibility of early detection of arteriosclerotic disease]		182135	22272	2	2005	It is suggested that increase of IMT and formation of plaque are risk factors in patients aged 50 or above with hypertension, and that careful observation of the carotid artery will be effective for early detection of arteriosclerosis, and to predict the symptoms thereof.	Case:273 hypertensive subjects;Control:500 healthy controls										
126794		personality traits	PSYCH	PSY	Hallucinations|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Ott, U.  et al. 2005	15965969				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):29-32	Evidence for a common biological basis of the absorption trait, hallucinogen effects, and positive symptoms: Epistasis between 5-HT2a andCOMT polymorphisms.		182135	22273	2	2005												
126795		schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Herken, H.  et al. 2003	12711403				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European psychiatry. 2003 Mar;18(2):77-81	Tardive dyskinesia is not associated with the polymorphisms of 5-HT2A receptor gene, serotonin transporter gene and catechol-o-methyltransferase gene.		182135	22274	2	2003	 Our findings indicated that 5-HT2A receptor gene, 5 HTT gene, and COMT gene polymorphisms were similar in schizophrenia with non-TD, schizophrenia with TD, and healthy controls. These polymorphisms, though, do not help to evaluate the susceptibility to TD.	Case:111/32 unrelated subjects who strictly met DSM-IV criteria for schizophrenia and tardive dyskinesia (n=32);Control:79 healthy unrelated controls										
126790		personality disorders	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Ham, B. J.  et al. 2004	14698468				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDPinfo	3356	Hs.72630			Neuroscience letters. 2004 Jan;354(1):5-Feb	Serotonergic genes and personality traits in the Korean population		182135	17613	2	2004	Our result suggested that 5-HT(2A) receptor gene polymorphism (A-1438G) appears to be associated with self-determinism and self-transcendence (ST). Our result also indicated a significant relationship between 5-HT(6) receptor gene polymorphism (C267T) and ST. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.	Cohort 146 healthy adults with no history of psychiatric disorders or other physical illness during the last 6 months Korea 										
126791		anorexia nervosa; bulimia	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Tozzi, F.  et al. 2002	12473966				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychopharmacology bulletin. 2002 ;36(3):60-90	Candidate gene studies in eating disorders.		182135	17614	2	2002	Review article											
126792	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Eley, T. C.  et al. 2004	15241435				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2004 Oct;9(10):908-15	Gene-environment interaction analysis of serotonin system markers with adolescent depression.		182135	19981	2	2004	HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.	Cohort 377 adolescents selected from 1990 adolescents aged 10-20 years 										
126787	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Lerer, B.  et al. 2005	15857569				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The international journal of neuropsychopharmacology. 2005 Sep;8(3):411-25	Combined analysis of 635 patients confirms an age-related association of the serotonin 2A receptor gene with tardive dyskinesia and specificity for the non-orofacial subtype.		182135	17587	2	2005	These findings confirm that genetic variability in HTR2A contributes a small but significant degree of risk for the expression of TD, particularly in older patients and specifically for the non-orofacial (limb-truncal) type. Together with other genetic variants associated with TD the findings could be used to assess risk in patients who are candidates for treatment with typical antipsychotic medications.	Case:256 patients with schizophrenia or schizoaffective disorder with tardive dyskinesia;Control:379 patients with schizophrenia or schizoaffective disorder without tardive dyskinesia										
126788	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Pae, C. U.  et al. 2005	15893580				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDPinfo	3356	Hs.72630			Neuroscience research. 2005 Jun;52(2):195-9	No evidence for interaction between 5-HT2A receptor and serotonin transporter genes in schizophrenia.		182135	17588	2	2005	These results suggest that the interaction between 5-HTTLPR and 5-HTR2A polymorphisms may not contribute to susceptibility to schizophrenia as well as some clinical factors such as antipsychotic response, at least in the Korean population.	Case:111 patients with schizophrenia:Korea;Control:172 normal controls	antipsychotic drug family history									
126789		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Antisocial Personality Disorder	13	13q14-q21	HTR2A	46305513	46368995		Parsian, A.  et al. 2001	11525423				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2001 Jun;11(2):89-94	Serotonergic pathway genes and subtypes of alcoholism: association studies.		182135	17593	2	2001	These data indicate that the genes in the serotonergic pathway may be involved in the development of type II alcoholism but the gene effects are very small.	Case sample of alcoholics;Control normal controls										
126784	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Zhang, X. N.  et al. 2004	15048642				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):16-8	102T/C SNP in the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia in two southern han chinese populations: Lack of association		182135	17583	2	2004	These data did not provide evidence for a contribution of the 102T/C SNP of HTR2A gene to susceptibility to the southern Han Chinese schizophrenia.	Case:291 schizophrenic patients in two southern Chinese:populations:China;Control:307 matched controls										
126785	N	bipolar disorder; mania, antidepressant-induced	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Etain, B.  et al. 2004	15274035				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	European		CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):29-33	Lack of association between 5HT2A receptor gene haplotype, bipolar disorder and its clinical subtypes in a West European sample.		182135	17585	2	2004	Our study suggests that the 5HT(2A)R gene is unlikely to be involved in genetic susceptibility to BPAD but should be further investigated in a pharmacogenetic study.	Control:208 healthy controls;Case:356 bipolar affective disorder patients from a West European sample	antidepressants									
126786	Y	schizophrenia; therapeutic response	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Hamdani, N.  et al. 2005	15722190				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuroscience letters. 2005 Mar;377(1):69-74	Negative symptoms of schizophrenia could explain discrepant data on the association between the 5-HT2A receptor gene and response to antipsychotics.		182135	17586	2	2005	This data indicate that negative symptoms are worth being systematically assessed in pharmacogenetic studies aimed at analysing candidate genes in schizophrenia.	Cohort 116 French schizophrenic subjects treated for at least 1 month by atypical antipsychotics 										
126781		depression	PSYCH	PSY	Diseases in Twins|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Jansson, M.  et al. 2003	12815744				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Sweden	CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):79-84	Association between depressed mood in the elderly and a 5-HTR2A gene variant.		182135	17579	2	2003	These results suggest that there might be different genetic mechanisms for males and females contributing to the development of depressed mood in the elderly.	Cohort 1,592 population-based Swedish twins Sweden 										
126782		suicide	PSYCH	PSY	Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Anguelova, M.  et al. 2003	12874600				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2003 Jul;8(7):646-53	A systematic review of association studies investigating genes coding for serotonin receptors and the serotonin transporter: II. Suicidalbehavior.		182135	17580	2	2003	The 5-HTT result was robust and remained significant following sensitivity analysis, suggesting that 5-HTT may play a role in the predisposition to suicide.	Cohort 1,599/2,539 subjects pooled for wo specific meta-analyses 										
126783		anorexia nervosa	PSYCH	PSY	Anorexia Nervosa|Mood Disorders	13	13q14-q21	HTR2A	46305513	46368995		Gorwood, P.  et al. 2003	14623359				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European journal of pharmacology. 2003 Nov;480(3-Jan):163-70	The human genetics of anorexia nervosa.		182135	17582	2	2003	We thus propose a meta-analysis showing that a large heterogeneity between samples exists, but the main effect of the -1438A allele persists even when extracting this contaminating effect (p=0.003). Furthermore, the absence of significant correlation between odds ratio and time after first publication of each sample, and size of each sample, is in accordance with the fact that the A allele is a risk factor. In order to explain the high heterogeneity between the nine studies yet performed, an alternative explanation such as a "modifying the phenotype" effect is proposed.											
126778	N	personality traits	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Jonsson, E. G.  et al. 2001	11409694				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2001 Mar;11(1):7-Nov	No association between serotonin 2A receptor gene variants and personality traits.		182135	17575	2	2001	We conclude that  the investigated 5-HT2A gene variants do not significantly influence personality as assessed by the KSP in the present population.	Cohort 304 healthy Swedish subjects 										
126779	Y	insulin; lipids; obesity; glucose; leptin	METABOLIC	MET	Obesity	13	13q14-q21	HTR2A	46305513	46368995		Rosmond, R.  et al. 2002	12079891			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Annals of the New York Academy of Sciences. 2002 Jun;967:571-5	Increased abdominal obesity in subjects with a mutation in the 5-HT(2A) receptor gene promoter.		182135	17577	2	2002	From these results, we suggest the possibility that an abnormal production rate of the 5-HT(2A) gene product might lead to the development of abdominal obesity. The pathophysiology could involve stress factors that destabilize the serotonin-hypothalamic-pituitary-adrenal systems in those with genetic vulnerability in the serotonin receptor gene.	Cohort 284 unrelated Swedish men born in 1944 										
126780	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Haider, M. Z.  et al. 2002	12109966				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		CDC GDPinfo	3356	Hs.72630			Psychiatry and clinical neurosciences. 2002 Aug;56(4):465-7	No evidence for an association between the 5-hydroxytryptamine 5-HT2a receptor gene and schizophrenia in Kuwaiti Arabs.		182135	17578	2	2002	The data from Kuwaiti Arabs (although our sample size is relatively small) support the findings from some other populations (Caucasians, Japanese), in which a lack of association has been found between T102C polymorphism and the onset of schizophrenia.	Control:109 normal healthy controls with similar ethnic:background;Case:80 Kuwaiti Arabs with schizophrenia:Kuwait										
126775	N	anxiety disorder; alcoholism; panic disorder; narcolepsy	PSYCH	PSY	Narcolepsy|Alcoholism|Anxiety Disorders	13	13q14-q21	HTR2A	46305513	46368995		Fehr, C.  et al. 2001	11444684				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Progress in neuro-psychopharmacology & biological psychiatry. 2001 Jul;25(5):965-82	Serotonergic polymorphisms in patients suffering from alcoholism, anxiety disorders and narcolepsy.		182135	14474	2	2001	Allele and genotype frequencies of the 5-HT2A receptor polymorphism (T102C), the intron 7 TPH polymorphism (A218C) were almost similar between the patients suffering from alcohol dependence, panic disorder, generalized anxiety disorder and narcolepsy. 4. There was no association between the 5-HT2A receptor polymorphism (T102C), the intron 7 TPH (A218C) polymorphisms and alcohol dependence, panic disorder, generalized anxiety disorder and narcolepsy in our subsets of German patients.	Case:176/35/50/55 176 alcohol dependent patients, 35 patients with panic disorder, 50 patients with generalized anxiety disorder, 55 patients with narcolepsy:Germany;Control:87 healthy controls										
126776	N	tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Chronic Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Segman, R. H.  et al. 2001	11317227				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2001 Mar;6(2):225-9	Association between the serotonin 2A receptor gene and tardive dyskinesia in chronic schizophrenia.		182135	17573	2	2001	The his452tyr polymorphism showed no association with TD. These findings suggest that the 5-HT2A receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia. Previously reported association of the T102C and A-1438G polymorphisms with schizophrenia(6) may reflect association of a sub-group of patients with a susceptibility to abnormal involuntary movements related to antipsychotic drug exposure.	Case:59 schizophrenia patients with tardive dyskinesia;Case:62 schizophrenia patients without tardive dyskinesia;Control:96 normal controls										
126777	Y	depression	PSYCH	PSY	Depressive Disorder, Major|Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Arias, B.  et al. 2001	11317230				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2001 Mar;6(2):239-42	Variability in the 5-HT(2A) receptor gene is associated with seasonal pattern in major depression.		182135	17574	2	2001	These results suggest that variation in the 5-HT2A receptor gene may play a role in the development of major depression with seasonal pattern and support the existence of a genetic and etiological heterogeneity underlying the diagnosis of major depression.	Case:159 patients with major depression;Control:164 unrelated and healthy controls	seasonality									
126772		sleep disorders; body mass	UNKNOWN	UNK	Sleep Apnea, Obstructive	13	13q14-q21	HTR2A	46305513	46368995		Sakai, K.  et al. 2005	16258205				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese	Japan	CDC GDPinfo	3356	Hs.72630			Internal medicine (Tokyo, Japan). 2005 Sep;44(9):928-33	Serotonin-2A and 2C receptor gene polymorphisms in Japanese patients with obstructive sleep apnea.		182135	11499	2	2005	 These results indicate that age and BMI, not these polymorphisms, are associated with OSA in this population.											
126773		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	13	13q14-q21	HTR2A	46305513	46368995		Thome, J.  et al. 2001	11725820				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			J Neural Transm. 2001 ;108(10):1175-80	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease		182135	11506	2	2001	These polymorphisms probably do not represent major genetic risk factors of AD. However, further studies including other genetic variants of the serotonergic neurotransmitter system are needed in order to elucidate their role in AD.	Case patients suffering from AD;Control non-demented psychiatric inpatients without symptoms of dementia										
126774		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	13	13q14-q21	HTR2A	46305513	46368995		Gorwood, P.  et al. 2004	15581469				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Med Sci (Paris). 2004 Dec;20(12):1132-8	[Alcohol dependence and polymorphisms of serotonin-related genes]		182135	11514	2	2004	Genes involved in the transmission, reuptake and metabolism of serotonin constitute a set of candidate genes that could be involved in core aspects of alcoholism, such as the tendency to prefer immediate reward, despite negative consequences.											
126769	N	seasonal affective disorder	UNKNOWN	UNK	Genetic Predisposition to Disease|Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Johansson, C.  et al. 2001	11300730				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neurobiology of disease. 2001 Apr;8(2):351-7	Seasonal affective disorder and serotonin-related polymorphisms.		182135	11487	2	2001	Although minor effects cannot be excluded, our results suggest that these polymorphisms do not play a major role in the pathogenesis of SAD in the northern European population.	Case:82 seaseonal affective disorder patients Sweden, Finland, and Germany;Control:82 healthy controls Sweden, Finland, and Germany										
126770		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Ellingrod, V. L.  et al. 2002	12454564				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of clinical psychopharmacology. 2002 Dec;22(6):622-4	5HT2A and 5HT2C receptor polymorphisms and predicting clinical response to olanzapine in schizophrenia		182135	11492	2	2002	This study is the first to investigate a relationship between 5HT2A/2C receptor polymorphisms, serum olanzapine concentrations, and clinical response, and supports a potential relationship between serotonin receptor polymorphisms and negative symptom response in schizophrenia. These results have important implications for the inclusion of genetic factors in clinical schizophrenia research. Due to the relatively small sample size and relatively brief olanzapine response and polymorphisms of the 5HT2A/2C receptor alleles need to be replicated in a larger sample.	Cohort 41 subjects with schizophrenia 	olanzapine									
126771	Y	Alzheimer's disease; anxiety disorder; depression; psychoses; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease	13	13q14-q21	HTR2A	46305513	46368995		Assal, F.  et al. 2004	15313842				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Archives of neurology. 2004 Aug;61(8):1249-53	Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease.		182135	11497	2	2004	 The 5-HT2A receptor polymorphism may contribute to the expression of psychosis and agitation/aggression in patients with Alzheimer disease. Absence of other positive associations may be due to the relatively small sample size and/or potentially small effect size of the polymorphisms and requires further study.	Cohort 96 patients with Alzheimer's diases California 										
126766	N	weight gain, antipsychotic drug-induced	METABOLIC	MET		13	13q14-q21	HTR2A	46305513	46368995		Mou, X.  et al. 2005	16215954	( -1438A/G)		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):575-6	[No association of -1438G/A polymorphism in promoter region of 5-HT2A receptor gene with antipsychotic agent-induced weight gain]		182135	11484	2	2005	 5-HTR2A gene -1438G/A polymorphism was probably not associated with APS-induced weight gain in Chinese Han patients with schizophrenia in this study.											
126767		suicidal behavior	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Zalsman, G.  et al. 2005	16231475	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			International journal of adolescent medicine and health. 2005 Jul-Sep;17(3):231-8	Family-based association study of 5-HT(2A) receptor T102C polymorphism and suicidal behavior in Ashkenazi inpatient adolescents.		182135	11485	2	2005	 These preliminary results suggest that the 5-HT(2A) T102C polymorphism is unlikely to be associated with suicidal behavior and related traits in adolescent suicide attempters.											
126768		cholesterol, HDL; cardiovascular disease; obesity; hyperuricemia	METABOLIC	MET	Obesity|Hyperuricemia	13	13q14-q21	HTR2A	46305513	46368995			16328014	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		CDC GDPinfo	3356	Hs.72630			International journal of molecular medicine. 2006 Jan;17(1):77-82	The -1438A/G polymorphism in the 5-hydroxytryptamine receptor 2A gene is related to hyperuricemia, increased gamma-glutamyl transpeptidase and decreased high-density lipoprotein cholesterol level in the Japanese population: A prospective cohort study over		182135	11486	2	2006												
126763		energy intake; fat intake	NORMALVARIATION	NV		13	13q14-q21	HTR2A	46305513	46368995		Herbeth, B.  et al. 2005	16087994				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The American journal of clinical nutrition. 2005 Aug;82(2):467-70	Polymorphism of the 5-HT2A receptor gene and food intakes in children and adolescents: the StanislasFamily Study.		182135	11481	2	2005	 The 5-HT2A gene polymorphism in the promoter region is associated with energy and fat intakes in young people. This could be explained by the role of the serotonergic system as a determinant of food intakes and eating behavior.											
126764		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Choi, M. J.  et al. 2005	16127283	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuropsychobiology. 2005 ;52(3):155-62	Serotonin receptor 2A gene polymorphism (-1438A/G) and short-term treatment response to citalopram.		182135	11482	2	2005			citalopram									
126765		platelet phamacodynamics	HEMATOLOGICAL	HEM	Myocardial Infarction	13	13q14-q21	HTR2A	46305513	46368995		Ozdener, F.  et al. 2005	16179957				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Turkey	CDC GDPinfo	3356	Hs.72630			Methods and findings in experimental and clinical pharmacology. 2005 Jul-Aug;27(6):395-400	5-Hydroxytryptamine-2A receptor gene (HTR 2 A) candidate polymorphism (T 102 C): Role for humanplatelet function under pharmacological challenge ex vivo.		182135	11483	2	2005												
126759	N	personality traits	PSYCH	PSY	Neurotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Tochigi, M.  et al. 2005	15722960				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2005 Mar;15(1):67-9	Serotonin 2A receptor gene polymorphism and personality traits: no evidence for significantassociation.		182135	11476	2	2005	Thus, the present study provided no evidence for statistically significant associations between the 5-HT2A polymorphisms and the personality traits.	Cohort 239 Japanese healthy volunteers 										
126760	Y	cholesterol, HDL	METABOLIC	MET		13	13q14-q21	HTR2A	46305513	46368995		Choi, J. H.  et al. 2005	15826503	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDPinfo	3356	Hs.72630			Journal of biochemistry and molecular biology. 2005 Mar;38(2):238-42	The association between the T102C polymorphism of the HTR2A serotonin receptor gene and HDL cholesterol level in Koreans.		182135	11477	2	2005	In conclusion, this study shows that the CC genotype of the HTR2A gene is related to lower HDL-cholesterol level in Koreans. This is the first demonstration showing the potential genetic relationship between the serotonin receptor gene polymorphism and the HDL-cholesterol level.	Cohort 646 Korean subjects without specific psychiatric disease 										
126761		memory impairment	NEUROLOGICAL	NEUR		13	13q14-q21	HTR2A	46305513	46368995		Papassotiropoulos, A.  et al. 2005	15891581				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuroreport. 2005 May;16(8):839-42	Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory.		182135	11478	2	2005	We conclude that  age strongly modulates the effect of the 5-HT2a receptor polymorphism at residue 452 on episodic memory.	Cohort 622 healthy study participants aged from 18 to 90 years 										
126756		temporomandibular dysfunction	UNKNOWN	UNK	Temporomandibular Joint Disorders	13	13q14-q21	HTR2A	46305513	46368995		Mutlu, N.  et al. 2004	15533210	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Oral diseases. 2004 Nov;10(6):349-52	T102C polymorphism of the 5-HT2A receptor gene may be associated with temporomandibular dysfunction.		182135	11472	2	2004	 The T102C polymorphism may be involved in the etiology of temporomandibular dysfunction. The overrepresentation of the C/C variant of 5-HT2A receptor gene in temporomandibular dysfunction suggests a possible role of the serotonergic system in this disease, particularly at the receptor level.	Control:54 healthy volunteer controls;Case:63 patients with temporomandibular dysfunction										
126757	N	smoking behavior	CHEMDEPENDENCY	CHEM		13	13q14-q21	HTR2A	46305513	46368995		Terayama, H.  et al. 2004	15564892				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2004 Dec;14(4):195-7	The serotonin-2A receptor polymorphism and smoking behavior in Japan.		182135	11473	2	2004	The results suggest that the HTR2A (102T/C, -1438G/A) polymorphism might not be associated with susceptibility to a risk factor for developing smoking behavior. Further studies are required to determine whether or not the novel serotonin receptor (5-HTR) polymorphism reflects the pathogenesis of smoking behavior.	Control:125 healthy controls;Case:82 smoking behaviorists										
126758		hypertension	CARDIOVASCULAR	CARD	Hypertension	13	13q14-q21	HTR2A	46305513	46368995		Yu, B. N.  et al. 2004	15659047	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		CDC GDPinfo	3356	Hs.72630			Clinical and experimental pharmacology & physiology. 2004 Dec;31(12):847-9	T102C genetic polymorphism of the 5-HT receptor in Chinese hypertensive patients and healthy controls		182135	11474	2	2004	We find that no correlation exists between the T102C genetic polymorphism and hypertension, which affords useful information on the pathogenesis of hypertension in the Chinese population.	Control:164 healthy controls;Case:198 Chinese hypertensive patients										
126753		schizophrenia; psychoses; aggressive behavior; verbal fluency	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995			15341275				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Genetika. 2004 Jun;40(6):841-5	[Polymorphism of the serotonin system genes in some Finno-Ugric populations]		182135	11469	2	2004	These results obtained indicate the prevalence of the site gain alleles of the EcoRV and Fnu4HI RFLP loci at the MAO-A gene in Komis and the of the corresponding site loss alleles in Khants.	Cohort Khant and Komi ehtnic groups 										
126754		schizophrenia; suicide	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Ertugrul, A.  et al. 2004	15469201				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Schizophrenia research. 2004 Aug;69(3-Feb):301-5	No association of the T102C polymorphism of the serotonin 2A receptor gene (HTR2A) with suicidality in schizophrenia.		182135	11470	2	2004	The relatively small sample size suggests a study with a larger sample and greater power would be of interest.	Cohort 71 schizophrenic patients 										
126755	Y	suicide; depression	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Khait, V. D.  et al. 2004	15483560				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuropsychopharmacology. 2005 Jan;30(1):166-72	Association of serotonin 5-HT2A receptor binding and the T102C polymorphism in depressed and healthy Caucasian subjects.		182135	11471	2	2004	The TT genotype appears associated with higher platelet 5-HT(2A) B(max) in the healthy population, but this genotypic effect appears absent in mood disorders and unrelated to psychopathology.	Case:152 Caucasian subjects with mood disorders, 56 of whom had a history of suicide attempts;Control:63 healthy volunteers										
126750	Y	irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Abdominal Pain	13	13q14-q21	HTR2A	46305513	46368995		Pata, C.  et al. 2004	15232358	(T102C,  -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of clinical gastroenterology. 2004 Aug;38(7):561-6	Association of the -1438 G/A and 102 T/C polymorphism of the 5-Ht2A receptor gene with irritable bowel syndrome 5-Ht2A gene polymorphism in irritable bowel syndrome.		182135	11466	2	2004	 This study suggests that the patients with homozygote C allele of the 102 T/C polymorphisms or homozygote A allele of the -1438 G/A polymorphism of the 5-HT2A receptor gene, have a high risk of IBS. On the other hand, T/T genotype of 102 T/C polymorphism may be associated with more severe pain in patient with IBS.	Cohort 54 patients with irritable bowel syndrome 										
126751		anorexia nervosa; bulimia	PSYCH	PSY	Bulimia|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Ricca, V.  et al. 2004	15245785			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuroscience letters. 2004 Jul;365(2):92-6	Psychopathological traits and 5-HT2A receptor promoter polymorphism (-1438 G/A) in patients suffering from Anorexia Nervosa and Bulimia Nervosa.		182135	11467	2	2004	The obtained preliminary data suggest the use of dimensional psychopathological measures in ED genetic studies.	Case:148 eating disorder patients;Control:89 control subjects										
126752	Y	personality disorders	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995			15285608				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molekuliarnaia biologiia. 2004 May-Jun;38(3):404-12	[Polymorphism of the serotonin 2A receptor gene (5HTR2A) and personality traits]		182135	11468	2	2004	Thus, the polymorphic alleles of SHTR2A proved to be associated with personality traits in mentally healthy people.	Cohort mentally healthy people 										
126747		anorexia nervosa; bulimia	PSYCH	PSY	Genetic Predisposition to Disease|Bulimia|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Fuentes, J. A.  et al. 2004	15167698	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2004 Jun;14(2):107-9	Analysis of the -1438 G/A polymorphism of the 5-HT2A serotonin receptor gene in bulimia nervosa patients with or without a history of anorexia nervosa		182135	11463	2	2004	At variance with some previous reports, when the frequency distribution of genotypes and alleles was compared in patients and controls, no differences were detected regardless of whether the bulimia nervosa patients had suffered prior anorexia nervosa episodes.	Control;Case female purgative bulimics										
126748	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Lam, L. C.  et al. 2004	15211529	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			International journal of geriatric psychiatry. 2004 Jun;19(6):523-6	5-HT(2A) T102C receptor polymorphism and neuropsychiatric symptoms in Alzheimer's disease		182135	11464	2	2004	 Specific NP symptoms in AD were significantly associated with 5-HT(2A) receptor polymorphisms. Possible ethnic differences in the behavioral expression of 5-HT(2A) receptor polymorphisms are worthy of further exploration.	Control:controls;Case:87 Chinese subjects with NINCDS-ADRDA diagnosis for probable and possible Alzheimer's disease Hong Kong										
126749		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Do Prado-Lima, P. A.  et al. 2004	15211639				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):90-3	Polymorphism of 5HT(2A) serotonin receptor gene is implicated in smoking addiction		182135	11465	2	2004	The odds ratio of being a current smoker with a CC genotype was 1.63, 95% CI 1.06-2.51.	Cohort 625 subjects classified according to their smoking behavior (never, former, or current smokers) 										
126744	Y	Alzheimer's disease; psychoses	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Rocchi, A.  et al. 2003	15000807				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Italy	CDC GDPinfo	3356	Hs.72630			Genetic testing. 2003 ;7(4):309-14	Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A):association studies with psychosis in Alzheimer disease.		182135	11458	2	2003	Our data strongly confirm results from previous studies suggesting that the C102 allele of the 5-HT2A receptor is associated with the occurrence of psychotic symptoms in AD. On the contrary, the serotonin transporter does not appear to be a major susceptibility factor in the pathophysiology of the disease.	Control:controls;Case sporadic Alzheimer's disease patients:Italy										
126745		impulse control disorder	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Reist, C.  et al. 2004	15037867				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2004 Sep;9(9):871-8	Inter-relationships of intermediate phenotypes for serotonin function, impulsivity, and a 5-HT2A candidate allele: His452Tyr.		182135	11460	2	2004	Although not statistically significant, the effect of the T102C, but not the His452Tyr, genotype on prolactin level change over time was associated with a medium to large strength of association (treatment magnitude of T(2)=0.10), suggesting that further study is warranted.	Control:controls;Case impulsive patients										
126746	N	psychoses	PSYCH	PSY	Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Mata, I.  et al. 2004	15048655				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Spanish		CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Apr;126(1):88-94	Serotonergic polymorphisms and psychotic disorders in populations from North Spain		182135	11461	2	2004	No clear association was found between 5-HT2A variants and psychosis. However, marginal associations were observed between the 5-HTT LPR and VNTR variants and psychosis (P	Case:257 clinical sample of psychosis patients surrounding areas in Northern Spain;Control:334 ethnically matched controls										
126741		schizophrenia	PSYCH	PSY	Schizotypal Personality Disorder|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Mitiushina, N. G.  et al. 2003	14681967				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2003 ;103(11):53-7	[Polymorphism of serotonin receptor gene 5-HTR2A and schizotypic traits in mentally healthy subjects]		182135	11455	2	2003	To a certain extent, the results confirm a hypothesis articulated in the study of G-allele and A2-allele relation to interpersonal relationship factor of SPQ-74.	Cohort 64 mentally healthy community individuals 										
126742	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Choi, M. J.  et al. 2004	14730199	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDPinfo	3356	Hs.72630			Neuropsychobiology. 2004 ;49(1):38-41	Association between Major Depressive Disorder and the -1438A/G Polymorphism of the Serotonin 2A Receptor Gene		182135	11456	2	2004	Our results support the hypothesis that the -1438A/G polymorphism of the promoter region of the 5-HTR2A gene is associated with MDD patients in a Korean population.	Control:148 unrelated healthy controls;Case:189 major depressive disorder patients:Korea										
126743	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Abdolmaleky, H. M.  et al. 2004	14741324				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Schizophrenia research. 2004 Mar;67(1):53-62	Meta-analysis of association between the T102C polymorphism of the 5HT2a receptor gene and schizophrenia.		182135	11457	2	2004	The effects of other genes, environmental effects on DNA methylation, or different methods of classification may be the causes for such heterogeneity, but more study in this area is needed.	Case schizophrenic patients from 31 case-control association studies;Control controls from 31 case-control association studies										
126738	N	psychosis, puerperal	PSYCH	PSY	Puerperal Disorders|Bipolar Disorder|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Robertson, E.  et al. 2003	14531760				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Acta psychiatrica Scandinavica. 2003 Nov;108(5):387-91	No association between two polymorphisms at the 5HT2A gene and bipolar affective puerperal psychosis.		182135	11452	2	2003	 The results indicate that variation at two common polymorphisms of the 5HT2A gene does not appear to play a major role in the development of bipolar affective puerperal psychosis.	Cohort 242 parous women diagnosed with bipolar disorder 										
126739		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Ellingrod, V. L.  et al. 2003	14566219	( -1438A/G)		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Psychopharmacology bulletin. 2003 ;37(2):109-12	5-HT2A receptor promoter polymorphism, -1438G/A and negative symptom response to olanzapine in schizophrenia.		182135	11453	2	2003	We conclude that  the A/A genotype may be associated with olanzapine negative symptom response, seen as a 2-fold greater percent reduction in SANS, and may be clinically relevant.	Cohort 41 subjects with schizophrenia 										
126740		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Migraine with Aura|Migraine without Aura|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Juhasz, G.  et al. 2003	14668201				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of neurogenetics. 2003 Apr-Sep;17(3-Feb):231-40	Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorphism and migraine.		182135	11454	2	2003	In conclusion, our results support that the genetic susceptibility of migraine may be associated with a locus at or near the 5-HT transporter gene.	Control:101 unrelated healthy controls;Case:126 migraine sufferers										
126735	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Ranade, S. S.  et al. 2003	12898571				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):28-34	Linkage and association between serotonin 2A receptor gene polymorphisms and bipolar I disorder.		182135	11449	2	2003	Our results support an etiological role for HTR2A in BD1. In view of the relatively small sample, replicate studies using large samples are needed.	Control:92 population controls;Case:93 bipolar I disorder cases										
126736		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Tot, S.  et al. 2003	12927326	( -1438A/G, T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Turkish		CDC GDPinfo	3356	Hs.72630			European psychiatry. 2003 Aug;18(5):249-54	T102C and -1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patients with obsessive-compulsive disorder.		182135	11450	2	2003	 The -1438 G/A and T102C polymorphisms of the 5-HT2A receptor gene are not associated with an increased risk of OCD. Our data suggest that the TT genotype of T102C and the AA genotype of -1438 G/A polymorphism might be a factor in clinical severity of OCD.	Case:58 patients with obsessive compulsive disorder;Control:83 healthy controls										
126737	N	affective disorder	PSYCH	PSY	Mood Disorders|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Oswald, P.  et al. 2003	12957335	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European neuropsychopharmacology. 2003 Oct;13(5):365-8	Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study.		182135	11451	2	2003	This study confirms, in a multicentric European sample, the earlier observations that the T102C HTR2A polymorphism is not associated with UPAD. Nevertheless, a type 2 statistical error cannot be excluded. Therefore, to exclude the implication of HTR2A in UPAD, this result must be replicated in larger samples and in other populations using the transmission disequilibrium test and different polymorphisms around HTR2A.	Case:142 unipola affective disorder patients:Europe;Control:142:controls										
126732	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Mitiushina, N. G.  et al. 2003	12830506	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2003 ;103(3):43-6	[A-1438-G serotonin receptor type 2A (5-HTR2A) gene polymorphism in patients in patients with schizophrenia]		182135	11446	2	2003	No association has been found between the genotypes and clinical characteristics of the patients, such as age at disease onset, age at psychosis manifestation, as well as positive, negative and general psychopathological symptoms severity measured by PANSS.	Case schizophrenic patients;Control:controls										
126733	N	behavioral disorder	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Berggard, C.  et al. 2003	12875919	( -1438A/G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Swedish		CDC GDPinfo	3356	Hs.72630			Neuroscience letters. 2003 Aug;347(3):196-8	The serotonin 2A -1438 G/A receptor polymorphism in a group of Swedish male criminals.		182135	11447	2	2003	In accordance with previous results, no associations were found between the 5-HT2A -1438 G/A polymorphism and personality as measured by Karolinska Scales of Personality. Neither were there any associations between the studied polymorphism and the type of crime committed.	Control:202 healthy Swedish blood donors;Case:97 Swedish criminals:Sweden										
126734		depressive disorder, major; nausea	PSYCH	PSY	Nausea	13	13q14-q21	HTR2A	46305513	46368995		Yoshida, K.  et al. 2003	12886034				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuropsychobiology. 2003 ;48(1):3-Oct	Monoamine oxidase A gene polymorphism, 5-HT 2A receptor gene polymorphism and incidence of nausea induced by fluvoxamine.		182135	11448	2	2003	This study showed that the genetic polymorphism of MAOA-VNTR might affect the incidence of nausea induced by SSRIs. If this finding is replicated in other studies with more subjects, MAOA-VNTR polymorphism would be of great clinical use to predict the incidence of nausea induced by SSRIs.	Cohort 66 Japanese major depressive patients 	fluvoxamine									
126729		autism	PSYCH	PSY	Mutism	13	13q14-q21	HTR2A	46305513	46368995		Sugie, Y.  et al. 2003	12607287				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			No to hattatsu Brain and development. 2003 Jan;35(1):23-8	[Serotonin 2A receptor gene polymorphism and clinical efficacy of fluvoxamine in children with autistic disorder]		182135	11442	2	2003	Our results suggested that genetic polymorphism of 102 T/C in the 5-HT2AR gene may have influence on the response to fluvoxamine treatment for patients with an autistic disorder. Because of the small numbers of subject studied here, further studies are needed. The methods of fluvoxamine treatment, such as appropriate dosage and treatment duration, should also be clarified.	Cohort 18 children with autisitc disorder 	fluvoxamine									
126730	N	schizophrenia; verbal fluency	PSYCH	PSY	Speech Disorders|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995			12624948				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Moscow	CDC GDPinfo	3356	Hs.72630			Molekuliarnaia biologiia. 2003 Jan-Feb;37(1):68-73	[Polymorphism of the serotonin receptor (5-HTR2A) gene and verbal fluency in normalcy and schizophrenia]		182135	11443	2	2003	The results did not support the association between the 5-HTR2A polymorphism and verbal fluency in normalcy, and agree with the assumed contribution of genotype A2A2 to the severity of schizophrenia.	Case:108 patients with schizophrenia or schizotypic:disorders;Control:97 mentally healthy individuals										
126731	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Rybakowski, F.  et al. 2003	12685303				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Polish		CDC GDPinfo	3356	Hs.72630			Psychiatria polska. 2003 Jan-Feb;37(1):47-55	[Association study of 5-HT2A receptor gene polymorphism in anorexia nervosa in Polish population]		182135	11444	2	2003	 These results suggest that -1438 A/G polymorphism in the promotor region of the 5-HT2A receptor gene does not increase the risk of AN in the Polish population.	Control:114 ethnically matched healthy controls;Case:67 Polish patients with anorexia nervosa										
126726		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Coto, E.  et al. 2003	12605580				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Clin Sci (Lond).. 2003 Mar;104(3):241-5	5-Hydroxytryptamine 5-HT2A receptor and 5-hydroxytryptamine transporter polymorphisms in acute myocardial infarction.		182135	11439	2	2003	According to our data, the ss genotype would seem to have a protective role against MI, delaying the age of onset of the first episode, especially among smokers. This could be a consequence of the lower 5-HTT levels linked to the s allele, so that individuals homozygous for the ss genotype may have lower 5-HT re-uptake by platelets.	Case:210/95 myocardial infarction patients of < 55 years old (n=210) and patients with late-onset myocardial infarction (n=95, >60 years old);Control:238 healthy control subjects	smoking (tobacco)									
126727	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Zoroglu, S. S.  et al. 2003	12606840	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Turkish		CDC GDPinfo	3356	Hs.72630			Neuropsychobiology. 2003 ;47(1):17-20	No evidence for an association between the T102C and 1438 G/A polymorphisms of the serotonin 2A receptor gene in attention deficit/hyperactivity disorder in a Turkish population.		182135	11440	2	2003	Overall, our results suggest that the investigated 5-HT2A polymorphisms are not major susceptibility factors in the etiology of ADHD.	Control:100 healhty controls;Case:70 Turkish children with attention deficit/hyperactivity disorder										
126728	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Herken, H.  et al. 2003	12606842				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Turkish		CDC GDPinfo	3356	Hs.72630			Neuropsychobiology. 2003 ;47(1):27-30	T102C polymorphisms at the 5-HT2A receptor gene in Turkish schizophrenia patients: a possibleassociation with prognosis.		182135	11441	2	2003	 Our findings indicate that the T102C polymorphisms of the 5-HT2A receptor gene does not play a substantial role in schizophrenia nor help evaluate susceptibility to schizophrenia. Since the 5-HT2A receptor gene polymorphism is associated with the frequency of hospitalization of the patients, it may be an indicator of prognosis in schizophrenia or help differentiate the patients who are somewhat refractory to antipsychotic treatment.	Case:141 unrelated Turkish subjects who strictly met DSM-IV criteria for schizophrenia;Control:79 healthy unrelated controls										
126723	Y	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Walitza, S.  et al. 2002	12476319	( -1438A/G)		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2002 ;7(10):1054-7	5-HT(2A) promoter polymorphism -1438G/A in children and adolescents with obsessive-compulsive disorders		182135	11436	2	2002	In this, to our knowledge, first association study based on children and adolescents with OCD, we confirm an association of the A-allele of the 5-HT2A receptor gene with OCD.	Control:223 unrelated student controls;Case:55 children and adolescents with obsessive compulsive:disorder										
126725	N	suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Correa, H.  et al. 2002	12585698	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Cellular and molecular neurobiology. 2002 Dec;22(6-May):813-7	Analysis of T102C 5HT2A polymorphism in Brazilian psychiatric inpatients: relationship with suicidalbehavior		182135	11438	2	2002	These results suggest that the 5HT2A gene polymorphism (102T/C) may not be involved in the genetic susceptibility to suicidal behavior.	Cohort 225 Brazilian psychiatric inpatients 										
126720	Y	attention deficit disorder; seasonal affective disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Levitan, R.  et al. 2002	12167522				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of affective disorders. 2002 Sep;71(3-Jan):229-33	Polymorphism of the serotonin-2A receptor gene (HTR2A) associated with childhood attention deficit hyperactivity disorder (ADHD) in adult women with seasonal affective disorder.		182135	11433	2	2002	 These preliminary results suggest a possible association between variation in HTR2A, childhood ADHD, and the later development of SAD in women.	Cohort 66 women with SAD were administered the Wender-Utah Rating Scale (WURS), which retrospectively assesses childhood ADHD 										
126721	Y	schizophrenia	OTHER	OTH	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Lane, H. Y.  et al. 2002	12202283				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The American journal of psychiatry. 2002 Sep;159(9):1593-5	Association of risperidone treatment response with a polymorphism in the 5-HT(2A) receptor gene.		182135	11434	2	2002	 These results suggest that variations in the 5-HT(2A) receptor gene may influence individual responses to risperidone.	Cohort 100 Han Chinese patients with acutely exacerbated schizophrenia 	risperidone									
126722		anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Kipman, A.  et al. 2002	12231269			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European psychiatry. 2002 Jul;17(4):227-9	5-HT(2A) gene promoter polymorphism as a modifying rather than a vulnerability factor in anorexia nervosa.		182135	11435	2	2002	Taking into account vulnerability genes, but also genes modifying the expression of the disorder, will help to disentangle the complexity of the etiological factors involved in anorexia nervosa.	Case:43 new patients with anorexia nervosa;Control:98 healthy controls										
126717		personality traits	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Kusumi, I.  et al. 2002	12063151				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of affective disorders. 2002 Apr;68(3-Feb):235-41	Serotonin 5-HT(2A) receptor gene polymorphism, 5-HT(2A) receptor function and personality traits in healthy subjects: a negative study.		182135	11430	2	2002	 Personality traits detected by TCI may not be directly related to the 5-HT(2A) receptor function or 5-HT(2A) receptor gene polymorphism which may be involved in the vulnerability of affective disorders.	Cohort 133 healthy subjects 										
126718	Y	obesity	METABOLIC	MET	Obesity	13	13q14-q21	HTR2A	46305513	46368995		Rosmond, R.  et al. 2002	12105278			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Obesity research. 2002 Jul;10(7):585-9	5-HT2A receptor gene promoter polymorphism in relation to abdominal obesity and cortisol.		182135	11431	2	2002	From these results, we suggest the possibility that an abnormal production rate of the 5-HT(2A) gene product might lead to the development of abdominal obesity. The pathophysiology could involve stress factors that destabilize the serotonin-hypothalamic-pituitary-adrenal system in those with genetic vulnerability in the serotonin receptor gene.	Cohort 284 unrelated Swedish men born in 1944 										
126719	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Araga, U. S.  et al. 2002	12140776				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Indian		CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2002 ;7(6):540-1	Association between the 102T/C polymorphism of serotonin-2A receptor gene and schizophrenia among south Indians.		182135	11432	2	2002	These results suggest that the 5-ht2A receptor gene or a gene closely linked to it may be involvd in the pathogenesis of schizophrenia. Conflicting results by other groups may be indicative of the racial differences in the samples studied. The multi-ethnic and multi-racial coposition of the Indian population provides a unique opportunity to study the genetic epidemiology and susceptibility of various ethnic and racial groups to a particular disease. Whether or not the 5-HT2A receptor plays a significant role in conferring a susceptibility to schizophrenia can be clarified by repeating these studies on patient samples divided according to clinical type, gender, age of onset and treatment response.	Case:100 schizophrenic patients (61 males and 39 females) south India;Control:100 normal age- and sex-matched controls between the ages of 18 and 65 years.										
126714		impulsive behavior	PSYCH	PSY	Substance-Related Disorders|Impulse Control Disorders|Mood Disorders	13	13q14-q21	HTR2A	46305513	46368995		Bjork, J. M.  et al. 2002	11920859	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2002 Apr;114(3):336-9	Serotonin 2a receptor T102C polymorphism and impaired impulse control.		182135	11426	2	2002	These preliminary data suggest that the T102C 5-HT2a receptor polymorphism may be a marker for impaired behavior control-perhaps in the context of psychiatric disorder history.	Cohort adults recruited from the community 										
126715	Y	bipolar disorder; unipolar disorder	PSYCH	PSY	Mood Disorders|Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Bonnier, B.  et al. 2002	11983190				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Biological psychiatry. 2002 May;51(9):762-5	Association of 5-HT(2A) receptor gene polymorphism with major affective disorders: the case of asubgroup of bipolar disorder with low suicide risk.		182135	11428	2	2002	 The association detected in this study suggests that the 5-HT(2A) receptor gene may play a role in the genetic susceptibility to bipolar disorder, through a specific subgroup of bipolar type I patients with lower risk of suicidal behavior.	Case:127/65 patients with major affective disorder (127 bipolar disorders and 65 unipolar disorders);Control:142 healthy control subjects										
126716	N	depression	PSYCH	PSY	Depressive Disorder|Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Cusin, C.  et al. 2002	12057029				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			The international journal of neuropsychopharmacology. 2002 Mar;5(1):27-35	Influence of monoamine oxidase A and serotonin receptor 2A polymorphisms in SSRI antidepressant activity.		182135	11429	2	2002	The investigated MAOA and 5-HT-2A gene variants, therefore, do not seem to play a major role in SSRI antidepressant activity.	Cohort 443 in-patients with major (n = 248) and bipolar (n = 195) depressiion 	fluvoxamine paroxetine									
126711	N	schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Yuk Lun Chen, R.  et al. 2001	11814537				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		CDC GDPinfo	3356	Hs.72630			Psychiatry research. 2001 Dec;105(3):175-85	No association between T102C polymorphism of serotonin-2A receptor gene and clinical phenotypes of Chinese schizophrenic patients.		182135	11423	2	2001	There is a need for future large-scale studies on the possible associations between genetic polymorphisms and neurocognitive function impairments in schizophrenia.	Case:471 unrelated Han Chinese schizophrenic patients Hong Kong;Control:523 unrelated healthy controls										
126712		alcoholism; alcoholic psychosis	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced	13	13q14-q21	HTR2A	46305513	46368995			11842624				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Russian		CDC GDPinfo	3356	Hs.72630			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2002 ;102(1):53-5	[The analysis of serotonin receptor type 2A gene polymorphism in patients of different nationalities with acute alcoholic psychosis]		182135	11424	2		(1) 5HTR2A genotype's and allele's frequency distributions in Russians and Tartars do not significantly differ and correspond to those for the white Americans; (2) for the men of Russian nationality the genotype G/G is associated with the early onset of a chronic alcoholization and acute alcoholic psychosis development; (3) for the men older than 35 years of Russian and Tartar nationalities with genotypes carrying an allele G the relative risk of the given pathology is estimated as 5.81.	Cohort men with an acute alcoholic psychosis of Russian and Tartar nationalities 										
126713		schizophrenia; affective disorder	PSYCH	PSY	Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Golimbet, V. E.  et al. 2002	11918989				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			European psychiatry. 2002 Mar;17(1):24-8	5HTR2A gene polymorphism and personality traits in patients with major psychoses.		182135	11425	2	2002	Therefore, the 2/2 genotype may contribute to produce the phenotype, with specific clinical and pathological features in common, regardless of nosologic heterogeneity of psychoses.	Control:104 first-degree healthy relatives;Control:157 controls not otherwise specified in abstract;Case:375 patients with major psychoses										
126708	N	psychiatric symptoms	OTHER	OTH	Fibromyalgia|Syndrome|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Gursoy, S.  et al. 2001	11732859	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Rheumatology international. 2001 Oct;21(2):58-61	Association of T102C polymorphism of the 5-HT2A receptor gene with pyschiatric status in fibromyalgia syndrome		182135	11420	2	2001	T102C polymorphism of the 5-HT2A receptor gene is not associated with the etiology of FS. Our results also indicate that the T/T genotype may be responsible for psychiatric symptoms of FS.	Case:58 patients with unrelated healthy volunteer controls;Control:58 unrelated healthy volunteer controls										
126709		personality disorders	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Galeeva, A.R.  et al. 2001	11771315				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Genetika. 2001 Nov;37(11):1581-4	[Polymorphism of the serotonin 2A receptor gene in populations from the Volga-Ural region]		182135	11421	2	2001	Specific trends in the changes of genotype and allele frequency of the 5HT2A gene depending on the ethnicity of the population were revealed.	Cohort populations of the Volga-Ural region Volga-Ural region, Russia 										
126710	Y	suicide	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Arias, B.  et al. 2001	11803534	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2001 Dec;105(8):801-4	The 5-HT(2A) receptor gene 102T/C polymorphism is associated with suicidal behavior in depressed patients.		182135	11422	2	2001	Our results replicate the proposed association between 5HT(2A)-C allele and suicidality in major depression. Moreover, no overall associations are detected when patients with major depression and controls are compared for 102T/C frequencies, suggesting that the increased risk for suicidality conferred by 5-HT(2A)-C allele is primarily associated with suicidal behavior and not with the diagnosis of major depression itself.	Case:159 Spanish patients with major depression;Control:164 unrelated and healthy Spanish controls										
126705	Y	Alzheimer's disease; psychosis	NEUROLOGICAL	NEUR	Alzheimer Disease|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Nacmias, B.  et al. 2001	11566166				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Biological psychiatry. 2001 Sep;50(6):472-5	Association between 5-HT(2A) receptor polymorphism and psychotic symptoms in Alzheimer's disease.		182135	11417	2	2001	 Our data strongly confirm and extend to FAD previous studies suggesting that the genetic variation at this locus is associated with prominent psychotic features in AD and that the 102C allele could play an important role in late-onset AD.	Cohort 275 patients affected by sporadic and familial Alzheimer's disease 										
126706	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Chee, I. S.  et al. 2001	11702051	( -1438A/G)		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2001 Sep;11(3):111-4	5-HT2A receptor gene promoter polymorphism -1438A/G and bipolar disorder		182135	11418	2	2001	Although further studies are necessary, these results in a Korean population suggest that -1438A/G polymorphism of 5-HT2A receptor gene promoter may be causally related to the development of bipolar disorder.	Case:142 patients with bipolar disorder:Korea;Control:148 normal controls subjects										
126707	N	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Ando, T.  et al. 2001	11702058			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese	Japan	CDC GDPinfo	3356	Hs.72630			Psychiatric genetics. 2001 Sep;11(3):157-60	5-HT2A promoter polymorphism is not associated with anorexia nervosa in Japanese patients		182135	11419	2	2001	at least for Japanese subjects, the A-allele of the -1438G/A polymorphism in the promoter region of the 5-HT2A receptor gene does not contribute to a predisposition to AN.	Control:127 normal female controls subjects;Case:75 female Japanese anorexia nervosa sufferers										
126702	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Golimbet, V. E.  et al. 2001	11490436				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2001 ;101(4):48-50	[Molecular genetic polymorphism of the genes of neurotransmitter systems in schizophrenics with early manifestation of the disease]		182135	11414	2	2001	These and earlier findings lead to the conclusion that A2A2 genotype was more frequently observed in the patients with more pronounced negative symptoms and high hereditary burden, which suggests that the A2A2 genotype is associated with an early onset.	Cohort 239 schizophrenic patients (31whose age was 12.6 +/- 3.6 years at the onset of the disease and 208 patients whose age was 23.5 +/- 6.7 years at the onset of the disease) 										
126703	Y	anorexia nervosa; bulimia nervosa	PSYCH	PSY	Eating Disorders|Borderline Personality Disorder	13	13q14-q21	HTR2A	46305513	46368995		Nishiguchi, N.  et al. 2001	11526993			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		CDC GDPinfo	3356	Hs.72630			Biological psychiatry. 2001 Jul;50(2):123-8	Association between 5HT2A receptor gene promoter region polymorphism and eating disorders in Japanese patients.		182135	11415	2	2001	 Though preliminary, these results can be interpreted as suggesting that the G allele of the 5HT2A receptor gene -1438A/G polymorphism may be associated with pathological features that EDs and BPD have in common, especially disinhibition in eating behavior and personality trait.	Case:182 eating disorder patients:Japan;Control:374 normal control subjects										
126704	Y	schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesias|Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Tan, E. C.  et al. 2001	11526996	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Biological psychiatry. 2001 Jul;50(2):144-7	Susceptibility to neuroleptic-induced tardive dyskinesia and the T102C polymorphism in the serotonin type 2A receptor.		182135	11416	2	2001	 A genetic variant of the 5-HT2A receptor may be associated with neuroleptic-induced tardive dyskinesia in schizophrenia. Further studies are needed to replicate the finding. The role of 5-HT2A receptor in the etiology of tardive dyskinesia or treatment-resistant schizophrenia should be further investigated.	Control:134 schizophrenic patients without tardive dyskinesia;Case:87 schizophrenic patients with tardive dyskinesia;Control:97 healthy controls										
126699	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Liolitsa, D.  et al. 2001	11378836	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Great Britain	CDC GDPinfo	3356	Hs.72630			Journal of human hypertension. 2001 May;15(5):335-9	Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension.		182135	11411	2	2001	 This data indicates that the T102C polymorphism in the 5-HT(2A) gene might be an independent risk factor for increased blood pressure in female individuals with essential hypertension.	Control:319 individuals of the community-based control group;Case:342 hypertensive subjects over 75 years										
126700		schizophrenia; affective disorder	PSYCH	PSY	Affective Disorders, Psychotic|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Golimbet, V. E.  et al. 2001	11421130				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Genetika. 2001 Apr;37(4):545-8	[Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses]		182135	11412	2	2001	It was demonstrated that schizophrenic and affective patients with the 2/2 genotype of serotonin receptor had lower scores on the anxiety scale and on the anxiety-related hypochondriasis and neuroticism scales than subjects with the 1/1 and 1/2 genotypes.	Cohort schizophrenic and affective patients 										
126701	Y	migraine with aura	OTHER	OTH	Migraine with Aura	13	13q14-q21	HTR2A	46305513	46368995		Erdal, M. E.  et al. 2001	11489292	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Journal of the neurological sciences. 2001 Jul;188(2-Jan):99-101	Association of the T102C polymorphism of 5-HT2A receptor gene with aura in migraine		182135	11413	2	2001	 The T102C polymorphism of the 5-HT2A receptor gene is not directly related to the increased risk of migraine. The associations between the genotypes of this gene and aura may suggest that 5-HT2A receptor gene polymorphism may be involved in determining the subtypes of or accompanying symptoms in the migraine disease.	Control:44 healthy controls;Case:61:migraineurs										
126696	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Huang, Y.  et al. 2001	11172633	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Zhonghua yi xue yi chuan xue za zhi. 2001 Feb;18(1):3-Nov	[Cases-Control association study and transmission disequilibrium test of T102C polymorphism in 5HT2A and Tourette syndrome]		182135	11408	2	2001	 102T/C polymorphism in 5HT2A is exclusively associated with Tourette syndrome comorbided with DSM-IV OCD, which may constitute an independent subtype of Tourette syndrome.	Control:120:controls;Case:157 trios with Tourette syndrome										
126697	N	depression	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Minov, C.  et al. 2001	11311507				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Neuroscience letters. 2001 May;303(2):119-22	Serotonin-2A-receptor and -transporter polymorphisms: lack of association in patients withmajor depression		182135	11409	2	2001	Overall our results suggest that the investigated 5-HT2A and 5-HTTLPR polymorphisms are not major susceptibility factors in the etiology of major depression. However, subtypes might be identified at least on a basis of differential treatment response.	Control:121 healthy controls;Case:173 patients with major depression										
126698	N	tardive dyskinesia	OTHER	OTH	Dyskinesia, Drug-Induced|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Basile, V. S.  et al. 2001	11317228				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			Molecular psychiatry. 2001 Mar;6(2):230-4	Lack of association between serotonin-2A receptor gene (HTR2A) polymorphisms and tardive dyskinesia in schizophrenia.		182135	11410	2	2001	We did not find any significant difference in allele, genotype or haplotype frequencies of polymorphisms in HTR2A among patients with or without TD	Cohort schizophrenic patients 										
126693	N	suicide; suicidal ideation	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Bondy, B.  et al. 2000	11121191	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):831-5	Lack of association of serotonin-2A receptor gene polymorphism (T102C) with suicidal ideation and suicide.		182135	11405	2	2000	Thus, our results suggest that this polymorphism may not commonly be involved in the susceptibility to suicidality	Control:125 healthy controls;Case:131/84 suicide victims with unknown underlying psychiatric diagnoses (n=131) and patients with major depression with or without suicidal ideation (n=84)										
126694	N	suicidal behavior	PSYCH	PSY	Alcoholism|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Preuss, U. W.  et al. 2000	11121202	(T102C)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):877-8	No association between suicidal behavior and 5-HT2A-T102C polymorphism in alcohol dependents.		182135	11406	2	2000	In conclusion, our results suggest that the 5-HT2A-C allele is no reliable marker for suicidality, although this polymorphism site remains an interesting locus of investigations in suicidal behaviour and the function of the serotonin system.	Control:117 Caucasian persons recruited from the general population, representing different social groups from unskilled worker to university graduates.;Case:150 Caucasian patients with alcohol dependence southern Germany										
126695	Y	suicide	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Crawford, J.  et al. 2000	11121203				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):879-80	No evidence for association of 5-HT2A receptor polymorphism with suicide.		182135	11407	2	2000	Thus, although our findings cannot specifically refute the hypothesis of Du et al. that genetic variation in the 5-HT2A receptor gene is associated with increased vulnerability to suicidal ideation in those with major depression, they certainly do not support the more important hypothesis that such a genetic variation is associated with completed suicide itself.	Case:68 completed suicides south Australia;Control:95 anonymous blood donors										
126690	N	Deliberate self-harm	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995	n	Pooley EC 2003	12877392	T102C			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182135	3316	1	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126691	Y	major depressive disorder	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Choi MJ 2004	14730199	-1438A/G			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		KGB	3356	Hs.72630			Neuropsychobiology. 2004 ;49(1):38-41	Association between major depressive disorder and the -1438A/G polymorphism of the serotonin 2A receptor gene.		182135	3317	1	2004	Our results support the hypothesis that the -1438A/G polymorphism of the promoter region of the 5-HTR2A gene is associated with MDD patients in a Korean population.	Control:148 unrelated healthy controls;Case:189 major depressive disorder patients:Korea										
126692	Y	alcohol abuse; behavior problems	PSYCH	PSY	Alcoholism|Mental Disorders	13	13q14-q21	HTR2A	46305513	46368995		Hwu, H. G.  et al. 2000	11121184				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):797-800	Association of 5HT2A receptor gene polymorphism and alcohol abuse with behavior problems.		182135	11404	2	2000	In conclusion, this study demonstrates that alcoholism is heterogeneous and male alcohol abuse with behavioral problems was associated with T/C 102 polymorphism of the 5HT2A receptor gene.	Control:70 normal controls subjects;Case:85/75 subjects (n=85, 45 men, 40 women) with alcohol abuse and subjects (51 men, 24 women) with alcohol:dependence (n=75)										
126687	Y	antidepressant medication intolerance.	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995	0.007	Murphy GM Jr 2003	14514498	102 T/C			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630	paroxetine intolerance		The American journal of psychiatry. 2003 Oct;160(10):1830-5	Pharmacogenetics of antidepressant medication intolerance.		182135	3313	1	2003	 Pharmacodynamic differences among patients due to variant 5-HT(2A) receptors appear to be more important than pharmacokinetic variation in determining paroxetine intolerance. Pharmacogenetic markers may be useful in predicting antidepressant treatment outcome.	Cohort 246 elderly patients with major depression	mirtazapine paroxetine									
126688	N	unipolar affective disorder	PSYCH	PSY	Mood Disorders|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995	n	Oswald P 2003	12957335	T102C			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			European neuropsychopharmacology. 2003 Oct;13(5):365-8	Lack of association between the 5HT2A receptor polymorphism (T102C) and unipolar affective disorder in a multicentric European study.		182135	3314	1	2003	This study confirms, in a multicentric European sample, the earlier observations that the T102C HTR2A polymorphism is not associated with UPAD. Nevertheless, a type 2 statistical error cannot be excluded. Therefore, to exclude the implication of HTR2A in UPAD, this result must be replicated in larger samples and in other populations using the transmission disequilibrium test and different polymorphisms around HTR2A.	Case:142 unipola affective disorder patients:Europe;Control:142:controls										
126689	N	bipolar I disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Ranade SS 2003	12898571				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):28-34	Linkage and association between serotonin 2A receptor gene polymorphisms and bipolar I disorder.		182135	3315	1	2003	Our results support an etiological role for HTR2A in BD1. In view of the relatively small sample, replicate studies using large samples are needed.	Control:92 population controls;Case:93 bipolar I disorder cases										
126683	Y	clozapine response	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Arranz M et al. 1995	7630250				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Lancet. 1995 Jul;346(8970):281-2	Association between clozapine response and allelic variation in 5-HT2A receptor gene.		182135	3309	1	1995												
126684	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Tay AH et al. 1997	9358020				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		KGB	3356	Hs.72630			Human heredity. 1997 Sep-Oct;47(5):298-300	Association between allele 1 of T102C polymorphism 5-hydroxytryptamine 2a receptor gene and schizophrenia in Chinese males in Singapore.		182135	3310	1	1997												
126686	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Chronic Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Segman RH et al. 2001	11317227				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 2001 Mar;6(2):225-9	Association between the serotonin 2A receptor gene and tardive dyskinesia in chronic schizophrenia.		182135	3312	1	2001	The his452tyr polymorphism showed no association with TD. These findings suggest that the 5-HT2A receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia. Previously reported association of the T102C and A-1438G polymorphisms with schizophrenia(6) may reflect association of a sub-group of patients with a susceptibility to abnormal involuntary movements related to antipsychotic drug exposure.	Case:59 schizophrenia patients with tardive dyskinesia;Case:62 schizophrenia patients without tardive dyskinesia;Control:96 normal controls										
126679	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	13	13q14-q21	HTR2A	46305513	46368995		Li T et al. 2002	11920858				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese	China	KGB	3356	Hs.72630			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		182135	3305	1	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
126681	N	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Hawi Z et al. 1997	9259371				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Irish	Ireland	KGB	3356	Hs.72630			American journal of medical genetics. 1997 Jul;74(4):370-3	No association or linkage between the 5-HT2a/T102C polymorphism and schizophrenia in Irish families.		182135	3307	1	1997												
126682		Migraine	NEUROLOGICAL	NEUR	Migraine Disorders	13	13q14-q21	HTR2A	46305513	46368995		Nyholt DR et al. 1996	8933989				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Cephalalgia. 1996 Nov;16(7):463-7	Migraine association and linkage analyses of the human 5-hydroxytryptamine (5HT2A) receptor gene.		182135	3308	1	1996												
126676	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Verga M et al. 1997	9034001				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Italian		KGB	3356	Hs.72630			American journal of medical genetics. 1997 Feb;74(1):21-5	No association between schizophrenia and the serotonin receptor 5HTR2a in an Italian population.		182135	3302	1	1997												
126677		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Spurlock G et al. 1998	9491812	T102C		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 1998 Jan;3(1):42-9	A family based association study of T102C polymorphism in 5HT2A and schizophrenia plus identification of new polymorphisms in the promoter.		182135	3303	1	1998												
126678	N	suicidal ideation and suicide.	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995	n	Bondy B et al. 2000	11121191				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):831-5	Lack of association of serotonin-2A receptor gene polymorphism (T102C) with suicidal ideation and suicide.		182135	3304	1	2000	Thus, our results suggest that this polymorphism may not commonly be involved in the susceptibility to suicidality	Control:125 healthy controls;Case:131/84 suicide victims with unknown underlying psychiatric diagnoses (n=131) and patients with major depression with or without suicidal ideation (n=84)										
126671	Y	aura	OTHER	OTH	Migraine with Aura	13	13q14-q21	HTR2A	46305513	46368995		Erdal ME et al. 2001	11489292	T102C polymorphism			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Journal of the neurological sciences. 2001 Jul;188(2-Jan):99-101	Association of the T102C polymorphism of 5-HT2A receptor gene with aura in migraine.		182135	3297	1	2001	 The T102C polymorphism of the 5-HT2A receptor gene is not directly related to the increased risk of migraine. The associations between the genotypes of this gene and aura may suggest that 5-HT2A receptor gene polymorphism may be involved in determining the subtypes of or accompanying symptoms in the migraine disease.	Control:44 healthy controls;Case:61:migraineurs										
126672	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Nacmias B et al. 2001	11566166				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Biological psychiatry. 2001 Sep;50(6):472-5	Association between 5-HT(2A) receptor polymorphism and psychotic symptoms in Alzheimer's disease.		182135	3298	1	2001	 Our data strongly confirm and extend to FAD previous studies suggesting that the genetic variation at this locus is associated with prominent psychotic features in AD and that the 102C allele could play an important role in late-onset AD.	Cohort 275 patients affected by sporadic and familial Alzheimer's disease										
126674	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995	n	Campbell DA et al. 1998	9482450			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Lancet. 1998 Feb;351(9101):499	Lack of association between 5-HT2A gene promoter polymorphism and susceptibility to anorexia nervosa.		182135	3300	1	1998												
126668		bipolar disorder	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Tut TG et al. 2000	10802129				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		KGB	3356	Hs.72630			Journal of affective disorders. 2000 Jun;58(3):211-4	Negative association between T102C polymorphism at the 5-HT2A receptor gene and bipolar affective disorders in Singaporean Chinese.		182135	3294	1	2000	 Our finding indicates that the 5HTR2A receptor gene polymorphism is not a major factor in the genetic susceptibility to BPAD in Singaporean Chinese.											
126669	Y	suicidal behavior in depressed patients.	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Arias B et al. 2001	11803534				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630	suicidal behavior		American journal of medical genetics. 2001 Dec;105(8):801-4	The 5-HT(2A) receptor gene 102T/C polymorphism is associated with suicidal behavior in depressed patients.		182135	3295	1	2001	Our results replicate the proposed association between 5HT(2A)-C allele and suicidality in major depression. Moreover, no overall associations are detected when patients with major depression and controls are compared for 102T/C frequencies, suggesting that the increased risk for suicidality conferred by 5-HT(2A)-C allele is primarily associated with suicidal behavior and not with the diagnosis of major depression itself.	Case:159 Spanish patients with major depression;Control:164 unrelated and healthy Spanish controls										
126670	Y	psychiatric status	OTHER	OTH	Fibromyalgia|Syndrome|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Gursoy S et al. 2001	11732859				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Rheumatology international. 2001 Oct;21(2):58-61	Association of T102C polymorphism of the 5-HT2A receptor gene with psychiatric status in fibromyalgia syndrome.		182135	3296	1	2001	T102C polymorphism of the 5-HT2A receptor gene is not associated with the etiology of FS. Our results also indicate that the T/T genotype may be responsible for psychiatric symptoms of FS.	Case:58 patients with unrelated healthy volunteer controls;Control:58 unrelated healthy volunteer controls										
126664		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Erdmann J et al. 1996	8655141				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Human genetics. 1996 May;97(5):614-9	Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: identification of two naturally occurring receptor variants and association analysis in schizophrenia.		182135	3290	1	1996												
126665	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	13	13q14-q21	HTR2A	46305513	46368995		Nakamura T et al. 1999	10089015			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Japan	KGB	3356	Hs.72630			Molecular psychiatry. 1999 Jan;4(1):85-8	Association of a polymorphism of the 5HT2A receptor gene promoter region with alcohol dependence.		182135	3291	1	1999												
126666		bipolar disorder	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Massat I et al. 2000	10893484				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics. 2000 Apr;96(2):136-40	A European multicenter association study of HTR2A receptor polymorphism in bipolar affective disorder.		182135	3292	1	2000												
126660		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Shinkai T et al. 1998	9694252				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Human heredity. 1998 Jul-Aug;48(4):212-5	Negative association between T102C polymorphism of the 5-HT2a receptor gene and schizophrenia in Japan.		182135	3286	1	1998												
126662	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Rybakowski F et al. 2003	12685303				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	population		KGB	3356	Hs.72630			Psychiatria polska. 2003 Jan-Feb;37(1):47-55	Association study of 5-HT2A receptor gene polymorphism in anorexia nervosa in Polish population trans Badanie asocjacyjne polimorfizmu genu receptora serotoniny 5-HT2A w jadlowstrecie psychicznym w populacji polskiej.		182135	3288	1	2003	 These results suggest that -1438 A/G polymorphism in the promotor region of the 5-HT2A receptor gene does not increase the risk of AN in the Polish population.	Control:114 ethnically matched healthy controls;Case:67 Polish patients with anorexia nervosa										
126663	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Liolitsa D et al. 2001	11378836				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Great Britain	KGB	3356	Hs.72630			Journal of human hypertension. 2001 May;15(5):335-9	Association study of the 5-HT(2A) receptor gene polymorphism T102C and essential hypertension.		182135	3289	1	2001	 This data indicates that the T102C polymorphism in the 5-HT(2A) gene might be an independent risk factor for increased blood pressure in female individuals with essential hypertension.	Control:319 individuals of the community-based control group;Case:342 hypertensive subjects over 75 years										
126657	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Herken H et al. 2003	12606842				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Neuropsychobiology. 2003 ;47(1):27-30	T102C polymorphisms at the 5-HT2A receptor gene in Turkish schizophrenia patients: a possible association with prognosis.		182135	3283	1	2003	 Our findings indicate that the T102C polymorphisms of the 5-HT2A receptor gene does not play a substantial role in schizophrenia nor help evaluate susceptibility to schizophrenia. Since the 5-HT2A receptor gene polymorphism is associated with the frequency of hospitalization of the patients, it may be an indicator of prognosis in schizophrenia or help differentiate the patients who are somewhat refractory to antipsychotic treatment.	Case:141 unrelated Turkish subjects who strictly met DSM-IV criteria for schizophrenia;Control:79 healthy unrelated controls										
126658	Y	risperidone treatment response	OTHER	OTH	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Lane HY et al. 2002	12202283				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			The American journal of psychiatry. 2002 Sep;159(9):1593-5	Association of risperidone treatment response with a polymorphism in the 5-HT(2A) receptor gene.		182135	3284	1	2002	 These results suggest that variations in the 5-HT(2A) receptor gene may influence individual responses to risperidone.	Cohort 100 Han Chinese patients with acutely exacerbated schizophrenia	risperidone									
126659	N	mood disorders	PSYCH	PSY	Mood Disorders	13	13q14-q21	HTR2A	46305513	46368995		Cusin C et al. 2002	11992560				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A COMT 5-HT2A DRD2 and DRD4 polymorphisms with illness time course in mood disorders.		182135	3285	1	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
126653	Y	response to clozapine	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Arranz MJ et al. 1998	9491814			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 1998 Jan;3(1):61-6	Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapine.		182135	3279	1	1998												
126654	Y	major depressive disorder	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		Sato K et al. 2002	12422060			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		KGB	3356	Hs.72630			Neuropsychobiology. 2002 ;46(3):136-40	Association between -1438G/A promoter polymorphism in the 5-HT(2A) receptor gene and fluvoxamine response in Japanese patients with major depressive disorder.		182135	3280	1	2002			fluvoxamine									
126655	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Haider MZ et al. 2002	12109966				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Psychiatry and clinical neurosciences. 2002 Aug;56(4):465-7	No evidence for an association between the 5-hydroxytryptamine 5-HT2a receptor gene and schizophrenia in Kuwaiti Arabs.		182135	3281	1	2002	The data from Kuwaiti Arabs (although our sample size is relatively small) support the findings from some other populations (Caucasians, Japanese), in which a lack of association has been found between T102C polymorphism and the onset of schizophrenia.	Control:109 normal healthy controls with similar ethnic:background;Case:80 Kuwaiti Arabs with schizophrenia:Kuwait										
126650	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995	n	Mahieu B et al. 1997	9194200				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Psychiatry research. 1997 May;70(2):65-9	No association between bipolar affective disorder and a serotonin receptor (5-HT2A) polymorphism.		182135	3276	1	1997												
126651	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Araga US et al. 2002	12140776				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 2002 ;7(6):540-1	Association between the 102T/C polymorphism of serotonin-2A receptor gene and schizophrenia among south Indians.		182135	3277	1	2002	These results suggest that the 5-ht2A receptor gene or a gene closely linked to it may be involvd in the pathogenesis of schizophrenia. Conflicting results by other groups may be indicative of the racial differences in the samples studied. The multi-ethnic and multi-racial coposition of the Indian population provides a unique opportunity to study the genetic epidemiology and susceptibility of various ethnic and racial groups to a particular disease. Whether or not the 5-HT2A receptor plays a significant role in conferring a susceptibility to schizophrenia can be clarified by repeating these studies on patient samples divided according to clinical type, gender, age of onset and treatment response.	Case:100 schizophrenic patients (61 males and 39 females) south India;Control:100 normal age- and sex-matched controls between the ages of 18 and 65 years.										
126652	Y	major depression	PSYCH	PSY	Depressive Disorder, Major|Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Arias B et al. 2001	11317230				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630	seasonal pattern of depression		Molecular psychiatry. 2001 Mar;6(2):239-42	Variability in the 5-HT(2A) receptor gene is associated with seasonal pattern in major depression.		182135	3278	1	2001	These results suggest that variation in the 5-HT2A receptor gene may play a role in the development of major depression with seasonal pattern and support the existence of a genetic and etiological heterogeneity underlying the diagnosis of major depression.	Case:159 patients with major depression;Control:164 unrelated and healthy controls	seasonality									
126647	N	completed suicide	PSYCH	PSY	Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995	n	Ono H et al. 2001	11461713				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Journal of psychiatric research. 2001 May-Jun;35(3):173-6	Serotonin 2A receptor gene polymorphism is not associated with completed suicide.		182135	3272	1	2001	We conclude that  the A-1438G polymorphism of the 5-HT2A receptor gene is not likely to have a major effect on the biological susceptibility of suicide.											
126648		psychiatric disorders	PSYCH	PSY	Mental Disorders|Anorexia Nervosa|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Campbell DA et al. 1997	10464662				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Genetic testing. 1997 ;1(4):297-9	Fine mapping of the human 5-HTR2a gene to chromosome 13q14 and identification of two highly polymorphic linked markers suitable for association studies in psychiatric disorders.		182135	3274	1	1997												
126649	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Kim YK et al. 1999	10335553				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Psychiatric genetics. 1999 Mar;9(1):47-9	No association between schizophrenia and serotonin receptor type 2A gene in Korea.		182135	3275	1	1999												
126642	N	personality traits	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995	n	Jonsson EG et al. 2001	11409694				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Psychiatric genetics. 2001 Mar;11(1):7-Nov	No association between serotonin 2A receptor gene variants and personality traits.		182135	3267	1	2001	We conclude that  the investigated 5-HT2A gene variants do not significantly influence personality as assessed by the KSP in the present population.	Cohort 304 healthy Swedish subjects										
126643	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Williams J et al. 1996	8622505				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Lancet. 1996 May;347(9011):1294-6	Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptamine type 2a-receptor gene. European Multicentre Association Study of Schizophrenia (EMASS) Group.		182135	3268	1	1996												
126644	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Inayama Y et al. 1996	8678105				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics. 1996 Feb;67(1):103-5	Positive association between a DNA sequence variant in the serotonin 2A receptor gene and schizophrenia.		182135	3269	1	1996												
126638	N	response to clozapine	PSYCH	PSY	Psychotic Disorders|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Malhotra AK et al. 1996	8678181				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			The American journal of psychiatry. 1996 Aug;153(8):1092-4	Lack of association between polymorphisms in the 5-HT2A receptor gene and the antipsychotic response to clozapine.		182135	3263	1	1996	 Allelic variation in the 5-HT2A gene is not associated with individual differences in clozapine response.											
126639	N	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Chen CH et al. 1997	9264136				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese	China|Taiwan	KGB	3356	Hs.72630			Psychiatric genetics. 1997 ;7(1):35-8	Lack of allelic association between 102T/C polymorphism of serotonin receptor type 2A gene and schizophrenia in Chinese.		182135	3264	1	1997												
126640	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Lin CH et al. 1999	10094133	102T/C			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Chinese		KGB	3356	Hs.72630			Neuroreport. 1999 Jan;10(1):57-60	No evidence for association of serotonin-2A receptor variant (102T/C) with schizophrenia or clozapine response in a Chinese population.		182135	3265	1	1999												
126634	Y	bipolar disorder	PSYCH	PSY	Mood Disorders|Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Bonnier B et al. 2002	11983190				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Biological psychiatry. 2002 May;51(9):762-5	Association of 5-HT(2A) receptor gene polymorphism with major affective disorders: the case of a subgroup of bipolar disorder with low suicide risk.		182135	3259	1	2002	 The association detected in this study suggests that the 5-HT(2A) receptor gene may play a role in the genetic susceptibility to bipolar disorder, through a specific subgroup of bipolar type I patients with lower risk of suicidal behavior.	Case:127/65 patients with major affective disorder (127 bipolar disorders and 65 unipolar disorders);Control:142 healthy control subjects										
126635		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Ni X et al. 2002	12622403				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Neuromolecular medicine. 2002 ;2(3):251-9	Family-based association study of the serotonin-2A receptor gene (5-HT2A) and bipolar disorder.		182135	3260	1	2002												
126636	N	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995	n	Ziegler A et al. 1999	10523809			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 1999 Sep;4(5):410-2	Further lack of association between the 5-HT2A gene promoter polymorphism and susceptibility to eating disorders and a meta-analysis pertaining to anorexia nervosa.		182135	3261	1	1999												
126631	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Zoroglu SS 2003	12606840				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Turkish		KEW	3356	Hs.72630			Neuropsychobiology. 2003 ;47(1):17-20	No evidence for an association between the T102C and 1438 G/A polymorphisms of the serotonin 2A receptor gene in attention deficit/hyperactivity disorder in a Turkish population.		182135	3256	1	2003	Overall, our results suggest that the investigated 5-HT2A polymorphisms are not major susceptibility factors in the etiology of ADHD.	Control:100 healhty controls;Case:70 Turkish children with attention deficit/hyperactivity disorder										
126632		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	13	13q14-q21	HTR2A	46305513	46368995		Thome J et al. 2001	11725820				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			J Neural Transm. 2001 ;108(10):1175-80	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease.		182135	3257	1	2001												
126633	Y	behavior problems	PSYCH	PSY	Alcoholism|Mental Disorders	13	13q14-q21	HTR2A	46305513	46368995		Hwu HG et al. 2000	11121184				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			American journal of medical genetics. 2000 Dec;96(6):797-800	Association of 5HT2A receptor gene polymorphism and alcohol abuse with behavior problems.		182135	3258	1	2000	In conclusion, this study demonstrates that alcoholism is heterogeneous and male alcohol abuse with behavioral problems was associated with T/C 102 polymorphism of the 5HT2A receptor gene.	Control:70 normal controls subjects;Case:85/75 subjects (n=85, 45 men, 40 women) with alcohol abuse and subjects (51 men, 24 women) with alcohol:dependence (n=75)										
126628	N	Major Depression	PSYCH	PSY	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995	n	Minov C 2001	11311507	T102C and His452Tyr			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Neuroscience letters. 2001 May;303(2):119-22	Serotonin-2A-receptor and -transporter polymorphisms: lack of association in patients withmajor depression		182135	3253	1	2001	Overall our results suggest that the investigated 5-HT2A and 5-HTTLPR polymorphisms are not major susceptibility factors in the etiology of major depression. However, subtypes might be identified at least on a basis of differential treatment response.	Control:121 healthy controls;Case:173 patients with major depression										
126629	N	Bipolar Affective Disorder	PSYCH	PSY	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995	n	Gutierrez B 1997	9341875	Four polymorphisms at the HTR2A locus			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Spanish		KGB	3356	Hs.72630			Human genetics. 1997 Oct;100(6-May):582-4			182135	3254	1	1997		Case:88; Control:113										
126630	N	Tardive Dyskinesia in Schizophrenia	OTHER	OTH	Dyskinesia, Drug-Induced|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Basile VS 2001	11317228	Three polymorphisms in HTR2A. one silent (C102T). one that alters the amino acid sequence (his452tyr). and one in the promoter region (A-1437G)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Molecular psychiatry. 2001 Mar;6(2):230-4	Lack of association between serotonin-2A receptor gene (HTR2A) polymorphisms and tardive dyskinesia in schizophrenia.		182135	3255	1	2001	We did not find any significant difference in allele, genotype or haplotype frequencies of polymorphisms in HTR2A among patients with or without TD	Cohort schizophrenic patients										
126625	N	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	1	1p36.3-p34.3	HTR1D	23390974	23393809		Racchi, M.  et al. 2004	15109354				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDPinfo	3352	Hs.121482			Headache. 2004 Apr;44(4):311-7	Familial migraine with aura: association study with5-HT1B/1D, 5-HT2C, and hSERT polymorphisms.		182133	22271	2	2004	 Our data do not support the involvement of 5-HT(1B/1D) and 5-HT(2C) receptor gene polymorphisms in migraine with aura, yet do suggest a possible role for a locus at or near the hSERT gene in the susceptibility to migraine with aura.	Control:controls;Case individuals from 18 unrelated families with multiple affected members										
126626	N	suicide	PSYCH	PSY		6	6q14-q15	HTR1E	87703973	87783116		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 1E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000865.1			CDC GDPinfo	3354	Hs.1611			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		182132	24887	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126627	N	suicide	PSYCH	PSY		3	3p12	HTR1F	88114415	88125152		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 1F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000866.2			CDC GDPinfo	3355	Hs.248136			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		182134	26230	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126622	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36.3-p34.3	HTR1D	23390974	23393809		Cordeiro, Q.  et al. 2005	16059583				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDPinfo	3352	Hs.121482			Arquivos de neuro-psiquiatria. 2005 Jun;63(2B):380-2	[Lack of association between the G681C polimorphism in the 5-HT1D(beta) autoreceptor gene and schizophrenia.]		182133	17572	2	2005												
126623		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	1	1p36.3-p34.3	HTR1D	23390974	23393809		Hemmings, S. M.  et al. 2003	12650952				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDPinfo	3352	Hs.121482			European neuropsychopharmacology. 2003 Mar;13(2):93-8	Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder.		182133	22269	2	2003	Although no statistically significant genotypic or allelic associations were detected, the data yielded interesting preliminary results that warrant further discussion and investigation.	Control:129 control individuals;Case:71 obsessive compulsive disorder patients in the genetically homogeneous Afrikaner population										
126624	N	suicide	PSYCH	PSY		1	1p36.3-p34.3	HTR1D	23390974	23393809		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDPinfo	3352	Hs.121482			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		182133	22270	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126618		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	6	6q13	HTR1B	78228666	78229839		Dick, D. M.  et al. 2003	12766633				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		182131	28153	2	2003	Review article											
126619	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1p36.3-p34.3	HTR1D	23390974	23393809	n	Mundo E et al. 2001	11557174	T371G			5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			KGB	3352	Hs.121482			Neuropsychopharmacology. 2001 Oct;25(4):608-13	The 5HT1Dbeta receptor gene in bipolar disorder: a family-based association study.		182133	3250	1	2001												
126620	N	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	1	1p36.3-p34.3	HTR1D	23390974	23393809	n	Di Bella D et al. 2002	12359689				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3		Italy	KGB	3352	Hs.121482			The American journal of psychiatry. 2002 Oct;159(10):1783-5	No association between obsessive-compulsive disorder and the 5-HT(1Dbeta) receptor gene.		182133	3251	1	2002	 These data do not support a role for the 5-HT(1Dbeta) receptor gene in conferring susceptibility to OCD.											
126615	Y	aggressive behavior	PSYCH	PSY	Mental Disorders	6	6q13	HTR1B	78228666	78229839		Davidge, K. M.  et al. 2004	15318027				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Psychiatric genetics. 2004 Sep;14(3):143-6	Association of the serotonin transporter and 5HT1Dbeta receptor genes with extreme, persistent and pervasive aggressive behaviour in children.		182131	19581	2	2004	While these preliminary findings should be interpreted cautiously, our data suggest that the 5HTT VNTR polymorphism is associated with measures of aggressive behaviour in a sample of children displaying extreme, persistent and pervasive aggression.	Control ethnically matched controls;Case:50 children with a minimum 2-year history of aggression and scores above the 90th percentile on the Aggression subscales of both the Child Behaviour Checklist and the Teacher's Report Form										
126616	N	personality traits	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Tsai, S. J.  et al. 2003	14504413				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Neuropsychobiology. 2003 ;48(2):68-71	Allelic variants of the tryptophan hydroxylase (A218C) and serotonin 1B receptor (A-161T) and personality traits.		182131	19979	2	2003	Our negative findings suggest that the TPH A218C and HTR1B polymorphisms do not play major roles in the determination of TPQ personality traits.	Cohort 209 young healthy Chinese 										
126617	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Bobb, A. J.  et al. 2005	15717291				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		182131	27746	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
126611		obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder|Bulimia Nervosa	6	6q13	HTR1B	78228666	78229839		Levitan, R. D.  et al. 2005	15944142				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			European neuropsychopharmacology. 2006 Jan;16(1):6-Jan	The serotonin-1Dbeta receptor gene and severity of obsessive-compulsive disorder in women with bulimia nervosa.		182131	17570	2	2005												
126613	N	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	6	6q13	HTR1B	78228666	78229839		Racchi, M.  et al. 2004	15109354				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Headache. 2004 Apr;44(4):311-7	Familial migraine with aura: association study with5-HT1B/1D, 5-HT2C, and hSERT polymorphisms.		182131	17597	2	2004	 Our data do not support the involvement of 5-HT(1B/1D) and 5-HT(2C) receptor gene polymorphisms in migraine with aura, yet do suggest a possible role for a locus at or near the hSERT gene in the susceptibility to migraine with aura.	Control:controls;Case individuals from 18 unrelated families with multiple affected members										
126614	N	suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Turecki, G.  et al. 2003	12627464				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):36-40	Suicide and serotonin: study of variation at sevenserotonin receptor genes in suicide completers.		182131	17612	2	2003	Our results do not support a substantial role of these serotonergic receptors in suicide completion.	Case:106 suicide completers;Control:120 normal controls										
126608		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Sinha, R.  et al. 2003	12898580				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):83-8	Linkage disequilibrium and haplotype analysis between serotonin receptor 1B gene variations and subtypes of alcoholism.		182131	17567	2	2003	The pattern of distribution of haplotypes was similar in patients and controls. It is concluded that these SNPs are not playing any direct role in the development of susceptibility to alcoholism in our patient sample.	Case:133/39 alcoholics without (n=133) and alcoholics with (n=39) medical complications;Control:88 normal controls										
126609	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	6	6q13	HTR1B	78228666	78229839		Soyka, M.  et al. 2004	14714219				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			J Neural Transm. 2004 Jan;111(1):101-9	Association of 5-HT1B receptor gene and antisocial behavior in alcoholism		182131	17568	2	2004	Based on the examination of 164 alcoholic subjects, an association was found between a lower frequency of the 5-HT 1B 861C allele, antisocial personality traits and conduct disorder in alcohol-dependent subjects. Adult antisocial personality occurred more often in males than females. Possible implications of these findings are discussed.	Cohort 164 alcoholic subjects 										
126610	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6q13	HTR1B	78228666	78229839		Duan, S.  et al. 2005	15698927				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Chinese		CDC GDPinfo	3351	Hs.123016			Neuroscience letters. 2005 Mar;376(2):93-7	No association between the serotonin 1B receptor gene and schizophrenia in a case-control and family-based association study.		182131	17569	2	2005	In conclusion, these data do not support the idea that HTR1B gene plays a major role in the etiopathogenesis of schizophrenia in Chinese Han population.	Case:456 Chinese Han schizophrenic cases;Control:557:controls										
126605		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	6	6q13	HTR1B	78228666	78229839		Maron, E.  et al. 2005	15670397				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			The international journal of neuropsychopharmacology. 2005 Jun;8(2):261-6	Associations between serotonin-related gene polymorphisms and panic disorder.		182131	14491	2	2005	These findings indicate that genetic variants conceivably related to lower 5-HT neurotransmission may be involved in the development of PD.	Case:158 patients with panic disorder;Control:215 healthy controls										
126606	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Gorwood, P.  et al. 2002	11827742				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Brain research bulletin. 2002 Jan;57(1):103-7	Reappraisal of the serotonin 5-HT(1B) receptor gene in alcoholism: of mice and men.		182131	17565	2	2002	The 5-HT(1B) receptor gene may thus not be a key component in the genetic background underlying alcohol dependence in human and alcohol preference in rodents, although these results should be considered as preliminary according to the small size of our sample.	Case:136 male alcoholics;Control:72 male control subjects										
126607		schizophrenia; bipolar disorder; suicide; anorexia nervosa; bulimia; substance abuse	PSYCH	PSY	Mental Disorders	6	6q13	HTR1B	78228666	78229839		Sanders, A. R.  et al. 2002	12437478				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Pharmacogenomics. 2002 Nov;3(6):745-62	DNA variation and psychopharmacology of the human serotonin receptor 1B (HTR1B) gene		182131	17566	2	2002	Review article											
126602	N	depressive disorder, major; suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	6	6q13	HTR1B	78228666	78229839		Tsai, S. J.  et al. 2004	15365222	(A-161T)			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Neuropsychobiology. 2004 ;50(3):235-8	Association study of serotonin 1B receptor (A-161T) genetic polymorphism and suicidal behaviors and response to fluoxetine in major depressive disorder.		182131	11402	2	2004	Our findings suggest that 5-HT1B A-161T genetic polymorphism does not play a major role in the susceptibility to MDD, nor is it related to suicidal attempt or the therapeutic response to fluoxetine in MDD.	Control:160 normal controls;Case:160 patients with major depressive disorder										
126603		heroin addiction	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	6	6q13	HTR1B	78228666	78229839			16344719				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Pharmacogenetics and genomics. 2006 Jan;16(1):25-36	Association analysis of polymorphisms in serotonin 1B receptor (HTR1B) gene with heroin addiction: acomparison of molecular and statistically estimated haplotypes		182131	11403	2	2006	 A point-wise significant association of haplotype pairs containing allele G at position 1180 with protective effect from heroin addiction in Caucasians was found. A point-wise nominally significant association of allele 1180G with a protective effect from heroin addiction was found in Caucasians. Statistically significant differences across four ethnic groups in control subjects for allelic frequencies of -261T>G and -161A>T were found.											
126604	Y	self-harm behavior	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Pooley, E. C.  et al. 2003	12877392	TPH A779C			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182131	14480	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126599	N	suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Rujescu, D.  et al. 2003	12497617				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):69-71	Lack of association between serotonin 5-HT1B receptor gene polymorphism and suicidal behavior.		182131	11399	2	2003	These findings suggest that the 5-HT1B polymorphism is unlikely to play a major role in the genetic susceptibility to suicide attempts.	Case:148 consecutively hospitalized German suicide:attempters;Control:327 German healthy volunteers randomly recruited from the general population										
126600	N	schizophrenia; suicide; aggressive behavior	PSYCH	PSY	Schizophrenia	6	6q13	HTR1B	78228666	78229839		Hong, C. J.  et al. 2004	14730192				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Neuropsychobiology. 2004 ;49(1):4-Jan	Association Study of Onset Age, Attempted Suicide, Aggressive Behavior, and Schizophrenia with a Serotonin 1B Receptor (A-161T) Genetic Polymorphism		182131	11400	2	2004	These findings suggest that the investigated 5-HT1B genetic polymorphism does not play a major role in the pathogenesis of schizophrenic disorders.	Case:110 patients with schizophrenic disorders;Control:215 normal controls										
126601	N	suicide	PSYCH	PSY	Genetic Predisposition to Disease	6	6q13	HTR1B	78228666	78229839		Stefulj, J.  et al. 2004	15108179	861G>C			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1		Croatia|Germany	CDC GDPinfo	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):48-50	Serotonin 1B (5HT-1B) receptor polymorphism (G861C) in suicide victims: association studies in Germanand Slavic population.		182131	11401	2	2004	Results provide evidence that the investigated 5HT-1B receptor gene variants are not implicated in the susceptibility to suicide.	Case:118 Slavic/Croatian suicide victims;Control:192:controls;Case:245 German suicide victims:Germany;Control:248:controls										
126596	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Hasegawa, Y.  et al. 2002	11956970				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			J Neural Transm. 2002 Apr;109(4):513-21	Association of a polymorphism of the serotonin 1B receptor gene and alcohol dependence with inactive aldehyde dehydrogenase-2.		182131	11396	2	2002	Taken together with recent observations, these results suggest that genetic variability of the 5HT1B receptor is involved in the development of some type of alcohol dependence.	Case:alcoholics;Control nonalcoholic controls										
126597	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Sun, H. F.  et al. 2002	12022963				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Taiwanese	Taiwan	CDC GDPinfo	3351	Hs.123016			Biological psychiatry. 2002 Jun;51(11):896-901	Association study of novel human serotonin 5-HT(1B) polymorphisms with alcohol dependence in Taiwanese Han.		182131	11397	2	2002	 Our results support an association between HTR1B and alcohol dependence. The HTR1B A-161T polymorphism may be valuable both as a functional and as an anonymous genetic marker for HTR1B.	Control:149 control subjects, who either never drank or drank only occasionally and in low quantities;Case:158 alcohol-dependent cases with withdrawal symptoms										
126598	Y	schizoaffective disorder; alcoholism; bipolar disorder; suicide	PSYCH	PSY	Substance-Related Disorders|Depressive Disorder, Major	6	6q13	HTR1B	78228666	78229839		Huang, Y. Y.  et al. 2003	12496953				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Neuropsychopharmacology. 2003 Jan;28(1):163-9	Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HTR1B) G861C polymorphism.		182131	11398	2	2003	Substance abuse disorder and major depression appear to be associated with the h5-HTR(1B) G861C locus in the patient population, but other psychopathologies such as bipolar disorder, schizophrenia, alcoholism, and suicide attempts were not found to be associated with this polymorphism. This preliminary result will need replication, given the limitations of association studies.	Case:394 psychiatric patients (with diagnoses of alcoholism, bipolar disorder, schizophrenia or a history of a suicide attempt);Control:96 healthy volunteers										
126593	N	alcohol abuse; cocaine abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Cocaine-Related Disorders	6	6q13	HTR1B	78228666	78229839		Cigler, T.  et al. 2001	11496363				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			American journal of medical genetics. 2001 Aug;105(6):489-97	Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene:no association with cocaine or alcohol abuse or dependence.		182131	11393	2	2001	No significant differences in polymorphisms of htr1b between cases and controls were found.	Case individuals with a primary diagnosis (DSM-IV criteria) of alcohol abuse or dependence;Case individuals with a primary diagnosis (DSM-IV criteria) of cocaine abuse or dependence;Control controls with no history of previous or current illicit drug or alcohol abuse or dependence										
126594	Y	body mass	METABOLIC	MET	Body Weight|Bulimia|Anorexia Nervosa	6	6q13	HTR1B	78228666	78229839		Levitan, R. D.  et al. 2001	11690602				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Biological psychiatry. 2001 Oct;50(8):640-3	Polymorphism of the serotonin 5-HT1B receptor gene (HTR1B) associated with minimum lifetime body mass index in women with bulimia nervosa		182131	11394	2	2001	 These preliminary findings suggest a possible association between HTR1B genetic polymorphism and minimum lifetime BMI in women with BN. These findings may shed light on why, in response to dieting, some BN patients achieve lower BMIs, whereas others have a natural limitation to their weight loss. Pending replication in a larger sample, these findings point to a possible genetic factor of fundamental importance to the BN population.	Cohort 98 women with bulimia nervosa 										
126595		substance dependence, antisocial	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Antisocial Personality Disorder	6	6q13	HTR1B	78228666	78229839		Kranzler, H. R.  et al. 2002	11751038				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Neuropsychopharmacology. 2002 Jan;26(1):115-22	Polymorphism of the 5-HT1B receptor gene (HTR1B):strong within-locus linkage disequilibrium without association to antisocial substance dependence.		182131	11395	2	2002	Despite no evidence in this study for allelic association of HTR1B to antisocial substance dependence, further evaluation of the hypothesized association is warranted in other population groups.	Cohort 479 subjects (370 European Americans and 123 African Americans) 										
126590	N	Schizophrenia	PSYCH	PSY	Schizophrenia	6	6q13	HTR1B	78228666	78229839		Hong CJ 2004	14730192	A-161T			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			Neuropsychobiology. 2004 ;49(1):4-Jan	Association study of onset age, attempted suicide, aggressive behavior, and schizophrenia with a serotonin 1B receptor (A-161T) genetic polymorphism.		182131	3249	1	2004	These findings suggest that the investigated 5-HT1B genetic polymorphism does not play a major role in the pathogenesis of schizophrenic disorders.	Case:110 patients with schizophrenic disorders;Control:215 normal controls										
126591		anxiety disorder; alcoholism; depression; narcolepsy	PSYCH	PSY	Narcolepsy|Alcoholism|Anxiety Disorders|Panic Disorder|Depressive Disorder, Major	6	6q13	HTR1B	78228666	78229839		Fehr, C.  et al. 2000	11104852	861G>C			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1		Germany	CDC GDPinfo	3351	Hs.123016			Psychiatry research. 2000 Dec;97(1):10-Jan	The HTR1B 861G>C receptor polymorphism among patients suffering from alcoholism, major depression, anxiety disorders and narcolepsy.		182131	11391	2	2000	Although the association in our study might be due to a type I error, the higher degree of HTR1B allele sharing within both populations could also argue for another alcoholism-relevant gene within the proximity of the HTR1B gene on human chromosome 6.	Case:209/108/32/50/58 209 patients with alcoholism, 108 patients with major depression, 32 patients with panic disorder, 50 patients with generalized anxiety disorder, 58 patients with narcolepsy;Control:74 healthy volunteers										
126592	N	suicidal behavior	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Nishiguchi, N.  et al. 2001	11378847				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Japanese		CDC GDPinfo	3351	Hs.123016			American journal of medical genetics. 2001 May;105(4):343-5	No evidence of an association between 5HT1B receptor gene polymorphism and suicide victims in a Japanese population.		182131	11392	2	2001	No significant differences in genotype distribution and allele frequencies were found between suicide victims and controls. Though there is the possibility of failing to detect small effects, these results show no evidence of an association between the 5HT1B receptor gene G861C polymorphism and suicide victims in a Japanese population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to suicide.	Case:163 suicide victims:Japan;Control:163 unrelated volunteers										
126587	N	Deliberate self-harm	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839	n	Pooley EC 2003	12877392	G861C			5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		182131	3246	1	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
126588	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	6	6q13	HTR1B	78228666	78229839		Soyka M 2004	14714219				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			J Neural Transm. 2004 Jan;111(1):101-9	Association of 5-HT1B receptor gene and antisocial behavior in alcoholism.		182131	3247	1	2004	Based on the examination of 164 alcoholic subjects, an association was found between a lower frequency of the 5-HT 1B 861C allele, antisocial personality traits and conduct disorder in alcohol-dependent subjects. Adult antisocial personality occurred more often in males than females. Possible implications of these findings are discussed.	Cohort 164 alcoholic subjects										
126589	Y	obsessive-compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	6	6q13	HTR1B	78228666	78229839	p=0.034	Camarena B 2004	14731309			other	5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Mexican		KGB	3351	Hs.123016			The international journal of neuropsychopharmacology. 2004 Mar;7(1):49-53	A family-based association study of the 5-HT-1Dbeta receptor gene in obsessive-compulsive disorder.		182131	3248	1	2004		Case:72 families										
126584	Y	major depression	PSYCH	PSY	Substance-Related Disorders|Depressive Disorder, Major	6	6q13	HTR1B	78228666	78229839		Huang YY et al. 2003	12496953				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			Neuropsychopharmacology. 2003 Jan;28(1):163-9	Substance abuse disorder and major depression are associated with the human 5-HT1B receptor gene (HTR1B) G861C polymorphism.		182131	3243	1	2003	Substance abuse disorder and major depression appear to be associated with the h5-HTR(1B) G861C locus in the patient population, but other psychopathologies such as bipolar disorder, schizophrenia, alcoholism, and suicide attempts were not found to be associated with this polymorphism. This preliminary result will need replication, given the limitations of association studies.	Case:394 psychiatric patients (with diagnoses of alcoholism, bipolar disorder, schizophrenia or a history of a suicide attempt);Control:96 healthy volunteers										
126585	Y	minimum lifetime body mass index	METABOLIC	MET	Body Weight|Bulimia|Anorexia Nervosa	6	6q13	HTR1B	78228666	78229839		Levitan RD et al. 2001	11690602				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			Biological psychiatry. 2001 Oct;50(8):640-3	Polymorphism of the serotonin 5-HT1B receptor gene (HTR1B) associated with minimum lifetime body mass index in women with bulimia nervosa.		182131	3244	1	2001	 These preliminary findings suggest a possible association between HTR1B genetic polymorphism and minimum lifetime BMI in women with BN. These findings may shed light on why, in response to dieting, some BN patients achieve lower BMIs, whereas others have a natural limitation to their weight loss. Pending replication in a larger sample, these findings point to a possible genetic factor of fundamental importance to the BN population.	Cohort 98 women with bulimia nervosa										
126586		alcoholism.	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Sinha R 2003	12898580				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):83-8	Linkage disequilibrium and haplotype analysis between serotonin receptor 1B gene variations and subtypes of alcoholism.		182131	3245	1	2003	The pattern of distribution of haplotypes was similar in patients and controls. It is concluded that these SNPs are not playing any direct role in the development of susceptibility to alcoholism in our patient sample.	Case:133/39 alcoholics without (n=133) and alcoholics with (n=39) medical complications;Control:88 normal controls										
126581	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Sun HF et al. 2002	12022963				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1		Taiwan	KGB	3351	Hs.123016			Biological psychiatry. 2002 Jun;51(11):896-901	Association study of novel human serotonin 5-HT(1B) polymorphisms with alcohol dependence in Taiwanese Han.		182131	3240	1	2002	 Our results support an association between HTR1B and alcohol dependence. The HTR1B A-161T polymorphism may be valuable both as a functional and as an anonymous genetic marker for HTR1B.	Control:149 control subjects, who either never drank or drank only occasionally and in low quantities;Case:158 alcohol-dependent cases with withdrawal symptoms										
126582	N	suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839	n	Nishiguchi N et al. 2001	11378847				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Japanese		KGB	3351	Hs.123016			American journal of medical genetics. 2001 May;105(4):343-5	No evidence of an association between 5HT1B receptor gene polymorphism and suicide victims in a Japanese population.		182131	3241	1	2001	No significant differences in genotype distribution and allele frequencies were found between suicide victims and controls. Though there is the possibility of failing to detect small effects, these results show no evidence of an association between the 5HT1B receptor gene G861C polymorphism and suicide victims in a Japanese population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to suicide.	Case:163 suicide victims:Japan;Control:163 unrelated volunteers										
126583	N	suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839	n	Rujescu D et al. 2003	12497617				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):69-71	Lack of association between serotonin 5-HT1B receptor gene polymorphism and suicidal behavior.		182131	3242	1	2003	These findings suggest that the 5-HT1B polymorphism is unlikely to play a major role in the genetic susceptibility to suicide attempts.	Case:148 consecutively hospitalized German suicide:attempters;Control:327 German healthy volunteers randomly recruited from the general population										
126578	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q13	HTR1B	78228666	78229839		Hasegawa Y et al. 2002	11956970				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			J Neural Transm. 2002 Apr;109(4):513-21	Association of a polymorphism of the serotonin 1B receptor gene and alcohol dependence with inactive aldehyde dehydrogenase-2.		182131	3237	1	2002	Taken together with recent observations, these results suggest that genetic variability of the 5HT1B receptor is involved in the development of some type of alcohol dependence.	Case:alcoholics;Control nonalcoholic controls										
126579		antisocial substance dependence.	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Antisocial Personality Disorder	6	6q13	HTR1B	78228666	78229839		Kranzler HR et al. 2002	11751038				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			Neuropsychopharmacology. 2002 Jan;26(1):115-22	Polymorphism of the 5-HT1B receptor gene (HTR1B): strong within-locus linkage disequilibrium without association to antisocial substance dependence.		182131	3238	1	2002	Despite no evidence in this study for allelic association of HTR1B to antisocial substance dependence, further evaluation of the hypothesized association is warranted in other population groups.	Cohort 479 subjects (370 European Americans and 123 African Americans)										
126580	N	cocaine or alcohol abuse or dependence.	CHEMDEPENDENCY	CHEM	Alcoholism|Cocaine-Related Disorders	6	6q13	HTR1B	78228666	78229839	n	Cigler T et al. 2001	11496363				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			KGB	3351	Hs.123016			American journal of medical genetics. 2001 Aug;105(6):489-97	Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence.		182131	3239	1	2001	No significant differences in polymorphisms of htr1b between cases and controls were found.	Case individuals with a primary diagnosis (DSM-IV criteria) of alcohol abuse or dependence;Case individuals with a primary diagnosis (DSM-IV criteria) of cocaine abuse or dependence;Control controls with no history of previous or current illicit drug or a										
126575		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Arias, B.  et al. 2005	15728438				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			Journal of psychopharmacology (Oxford, England). 2005 Mar;19(2):166-72	Evidence for a combined genetic effect of the 5-HT(1A) receptor and serotonin transporter genes in the clinical outcome of major depressive patients treated with citalopram.		109760	19592	2	2005	Our results suggest that the combined effect of the serotonin transporter and the 5-HT(1A) receptor genes could be related to the clinical outcome of depressive patients treated with citalopram.	Cohort 130 Spanish origin patients 	citalopram									
126576		depressive disorder, major	PSYCH	PSY	Depressive Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Peters, E. J.  et al. 2004	15052272				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		109760	19986	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
126577		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Hong, C. J.  et al. 2005	16302021				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Chinese		CDC GDPinfo	3350	Hs.247940			The pharmacogenomics journal. 2006 Jan-Feb;6(1):27-33	Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder.		109760	22268	2	2005			fluoxetine									
126572		suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Ohtani, M.  et al. 2004	14998306				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Japanese		CDC GDPinfo	3350	Hs.247940			The Tohoku journal of experimental medicine. 2004 Feb;202(2):123-33	Polymorphisms of the tryptophan hydroxylase gene and serotonin 1A receptor gene in suicide victims among Japanese.		109760	14483	2	2004	In conclusion, no significant relation could be established statistically concerning the serotonin related genes between the suicide samples and control samples in Akita.	Case:134 suicide victims:Japan;Control:325 healthy volunteers										
126573	Y	personality disorders	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Strobel, A.  et al. 2003	14666415				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			J Neural Transm. 2003 Dec;110(12):1445-53	Allelic variation in 5-HT1A receptor expression is associated with anxiety- and depression-related personality traits.		109760	17563	2	2003	Our findings indicate a role of allelic variation in 5-HT(1A) receptor expression in the development and modulation of anxiety- and depression-related personality traits.	Cohort healthy volunteers 										
126574	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Chen, T. J.  et al. 2004	15539859			promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			Neuropsychobiology. 2004 ;50(4):292-5	Association analysis for the C-1019G promoter variant of the 5-HT1A receptor gene with auditory evoked potentials in major depression.		109760	17564	2	2004	These findings suggest that this 5-HT1A polymorphism may affect AEP P2 latency in a gender-dependent manner. Further studies with other genetic polymorphisms in the serotonergic system may help to clarify the relation between serotonergic function and AEP components.	Cohort 221 										
126569		mood disorder	PSYCH	PSY	Mood Disorders	5	5q11.2-q13	HTR1A	63292033	63293302		Lorenzi, C.  et al. 2005	15952185				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):33-5	5-HT(1A) polymorphism and self-transcendence in mood disorders.		109760	11390	2	2005												
126570	Y	panic disorder	PSYCH	PSY	Panic Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Inada, Y.  et al. 2003	12759158				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			Psychiatry research. 2003 May;118(1):25-31	Positive association between panic disorder and polymorphism of the serotonin 2A receptor gene		109760	11493	2	2003	The study showed a positive association between panic disorder and the HTR2A gene, suggesting that HTR2A plays an important role in the pathogenesis of panic disorder.	Control:100 biologically unrelated normal controls;Case:63 biologically unrelated patients with panic disorder western area of Japan										
126571	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q11.2-q13	HTR1A	63292033	63293302		Masellis, M.  et al. 2001	11163544	C267T			5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			Schizophrenia research. 2001 Jan;47(1):49-58	Lack of association between the T-->C 267 serotonin 5-HT6 receptor gene (HTR6) polymorphism and prediction of response to clozapine in schizophrenia.		109760	11513	2	2001	Overall, our findings do not support a role for the T-->C 267 polymorphism of the 5-HT6 receptor gene in response to clozapine, although replication is required to confirm this finding.	Cohort 185 schizophrenia patients that have been clinically well characterized for clozapine response 	clozapine									
126566	Y	depression	PSYCH	PSY	Depressive Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Lemonde, S.  et al. 2004	15447813	1019C>G		promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			The international journal of neuropsychopharmacology. 2004 Dec;7(4):501-6	Association of the C(-1019)G 5-HT1A functional promoter polymorphism with antidepressant response.		109760	11387	2	2004	These results implicate the C(1019)G 5-HT1A gene polymorphism as a potential marker for antidepressant response, suggesting a role for repression of the 5-HT1A gene.	Cohort 118 depressed patients 	filibanserin fluoxetine nefadozone pindolol									
126567		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	5	5q11.2-q13	HTR1A	63292033	63293302		Serretti, A.  et al. 2004	15458611	1019C>G		promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			The international journal of neuropsychopharmacology. 2004 Dec;7(4):453-60	The C(-1019)G polymorphism of the 5-HT1A gene promoter and antidepressant response in mood disorders: preliminary findings.		109760	11388	2	2004	In conclusion, 5-HT1A variants could influence the antidepressant efficacy in bipolar subjects, even if results must be verified on larger samples.	Cohort 262 mood-disorder subjects (151 major depressed and 111 bipolars) 	fluvoxamine									
126568	N	panic disorder; psychoses; substance abuse	PSYCH	PSY	Mental Disorders|Anxiety Disorders|Mood Disorders|Depressive Disorder, Major|Schizophrenia	5	5q11.2-q13	HTR1A	63292033	63293302		Huang, Y. Y.  et al. 2004	15469667	1019C>G			5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			The international journal of neuropsychopharmacology. 2004 Dec;7(4):441-51	Human 5-HT1A receptor C(-1019)G polymorphism and psychopathology.		109760	11389	2	2004	An association of the 5-HTR1A C(-1019)G locus with schizophrenia, substance use disorder, and panic attack was suggested by our results. In post-mortem brain samples, 5-HT1A receptor binding in prefrontal cortex and suicide were not associated with genotype. The relationship does not appear to be explained by binding differences, although we cannot rule out altered receptor affinity and transduction.	Control:107 unrelated healthy volunteers;Case:696/241 unrelated psychiatric subjects (n=696) and post-mortem brain samples (n=241)										
126563	N	suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Nishiguchi, N.  et al. 2002	11992564				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			American journal of medical genetics. 2002 May;114(4):423-5	Lack of an association between 5-HT1A receptor gene structural polymorphisms and suicide victims.		109760	11384	2	2002	These findings suggest that neither of these two polymorphisms is associated with suicide victims and it is unlikely that the 5-HT(1A) receptor gene is implicated in the susceptibility to suicide.	Cohort suicide victims who completed suicide 										
126564	Y	panic disorder	PSYCH	PSY	Agoraphobia|Panic Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Rothe, C.  et al. 2004	14984628	1019C>G			5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			The international journal of neuropsychopharmacology. 2004 Jun;7(2):189-92	Association of a functional 1019C>G 5-HT1A receptor gene polymorphism with panic disorder with agoraphobia.		109760	11385	2	2004	In conclusion, our findings do not support a major contribution of this polymorphism to the pathogenesis of panic disorder, but provide evidence for a possible role in the subgroup with agoraphobia.	Control:134 matched controls;Case:134 panic-disorder patients										
126565		depression	PSYCH	PSY	Depressive Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Suzuki, Y.  et al. 2004	15148501				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDPinfo	3350	Hs.247940			The pharmacogenomics journal. 2004 ;4(4):283-6	The effects of a 5-hydroxytryptamine 1A receptor gene polymorphism on the clinical response to fluvoxamine in depressed patients.		109760	11386	2	2004	These results suggest that the Gly272Asp polymorphism of the 5-HT1A receptor gene may predict the response to FLV.	Cohort 65 depressed outpatients 	fluvoxamine									
126560	N	mood disorders	PSYCH	PSY	Mood Disorders	5	5q11.2-q13	HTR1A	63292033	63293302	n	Serretti A et al. 2000	10893489			coding sequence	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Italian (Caucasian)		Serretti	3350	Hs.247940			American journal of medical genetics. 2000 Apr;96(2):161-6	Serotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disorders		109760	3233	1	2000		Case:BP: 72; MDD: 12										
126561	N	mood disorders	PSYCH	PSY	Mood Disorders	5	5q11.2-q13	HTR1A	63292033	63293302	n	Serretti A et al. 2000	10893489			coding sequence	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Italian (Caucasian)		Serretti	3350	Hs.247940			American journal of medical genetics. 2000 Apr;96(2):161-6	Serotonin-2c and serotonin-1a receptor genes are not associated with psychotic symptomatology of mood disorders		109760	3234	1	2000		Case:BP: 72; MDD: 12										
126562		mood disorders	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Serretti A et al. 2000	10758249			coding sequence	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Italian (Caucasian)		Serretti	3350	Hs.247940			Journal of psychiatric research. 2000 Mar-Apr;34(2):89-98	Serotonin receptor 2A, 2C, 1A genes and response to lithium prophylaxis in mood disorders		109760	3235	1	2000		Case:bipolar (n=102) and major depressive (n=22)										
126556	Y	schizophrenia	PSYCH	PSY		11	11q13	HTATIP	65236064	65243651		Wei J et al. 1998	9857971				HIV-1 Tat interacting protein, 60kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182710.1			KGB	10524	Hs.528299			Molecular psychiatry. 1998 Nov;3(6):480-1	Is the cPLA2 gene associated with schizophrenia?			6665	1	1998												
126557		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q11.2-q13	HTR1A	63292033	63293302		Kawanishi Y et al. 1998	9754630			promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			KGB	3350	Hs.247940			American journal of medical genetics. 1998 Sep;81(5):434-9	Novel mutations in the promoter and coding region of the human 5-HT1A receptor gene and association analysis in schizophrenia.		109760	3230	1	1998												
126558	N	Suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302	n	Nishiguchi N 2002	11992564	Pro16Leu and Gly272Asp			5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			KGB	3350	Hs.247940			American journal of medical genetics. 2002 May;114(4):423-5	Lack of an association between 5-HT1A receptor gene structural polymorphisms and suicide victims.		109760	3231	1	2002	These findings suggest that neither of these two polymorphisms is associated with suicide victims and it is unlikely that the 5-HT(1A) receptor gene is implicated in the susceptibility to suicide.	Cohort suicide victims who completed suicide										
126552		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36.1-p35	HSPG2	22021323	22136337		Iivonen, S.  et al. 2003	14625044				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3			CDC GDPinfo	3339	Hs.562227			Neuroscience letters. 2003 Dec;352(2):146-50	Heparan sulfate proteoglycan 2 polymorphism in Alzheimer's disease and correlation with neuropathology		142461	11381	2	2003	In conclusion, HSPG2 A allele may possess an additive risk effect among the APOE epsilon4 carriers in AD.	Case:213 Alzheimer's disease patients;Control:269:controls										
126553	N	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	1	1p36.1-p35	HSPG2	22021323	22136337		Chou, H. T.  et al. 2004	14973356			intron	Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3	Chinese	Taiwan	CDC GDPinfo	3339	Hs.562227			Japanese heart journal. 2004 Jan;45(1):109-18	Lack of association between perlecan gene intron 6 BamHI polymorphism and risk of mitral valve prolapse in Taiwan Chinese.		142461	11382	2	2004	It is concluded that perlecan gene intron 6 BamHI polymorphism is not a suitable genetic marker of MVP in Taiwan Chinese	Control:100 age- and sex-matched nromal controls;Case:100 patients with mitral valve prolapse:Taiwan										
126554	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression|Genetic Predisposition to Disease	1	1p36.1-p35	HSPG2	22021323	22136337		Rosenmann, H.  et al. 2004	15211644				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3			CDC GDPinfo	3339	Hs.562227			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):123-5	An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease		142461	11383	2	2004	These findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and AD in our population.	Control:controls;Case Alzheimer's disease cases										
126548		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR		7	7q11.23	HSPB1	75769858	75771546		Liu, X.  et al. 2005	16215937				Heat shock 27kDa protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001540.2	Chinese		CDC GDPinfo	3315	Hs.520973			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):510-3	[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease]		602195	17562	2	2005	 To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.											
126550	N	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	1	1p36.1-p35	HSPG2	22021323	22136337		Chou HT 2004	14973356	intron 6 BamHI polymorphism			Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3		Taiwan	KGB	3339	Hs.562227			Japanese heart journal. 2004 Jan;45(1):109-18	Lack of association between perlecan gene intron 6 BamHI polymorphism and risk of mitral valve prolapse in Taiwan Chinese.		142461	3228	1	2004	It is concluded that perlecan gene intron 6 BamHI polymorphism is not a suitable genetic marker of MVP in Taiwan Chinese	Control:100 age- and sex-matched nromal controls;Case:100 patients with mitral valve prolapse:Taiwan										
126551	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	1	1p36.1-p35	HSPG2	22021323	22136337	0.007	Suzuki A 2004	15081423				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3	Japanese	Japan	KGB	3339	Hs.562227			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		142461	3229	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
126545	Y	kidney failure	RENAL	REN	Kidney Failure, Acute|Infant, Premature, Diseases	11	11q24.1	HSPA8	122433409	122438054		Fekete, A.  et al. 2003	12840151				Heat shock 70kDa protein 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006597.3			CDC GDPinfo	3312	Hs.180414			Pediatric research. 2003 Oct;54(4):452-5	Association between heat shock protein 72 gene polymorphism and acute renal failure in premature neonates.		600816	11379	2	2003	Therefore, VLBW neonates with (1267)GG might express less HSP72 and might be less protected against ARF.	Case:37 very low birth weight neonates with acute renal:failure;Control:93 very low birth weight neonates without acute renal:failure										
126546		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11q24.1	HSPA8	122433409	122438054		Rusin, M.  et al. 2004	14991745	(1541-1542delGT)		intron	Heat shock 70kDa protein 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006597.3			CDC GDPinfo	3312	Hs.180414			Molecular carcinogenesis. 2004 Mar;39(3):155-63	Intronic polymorphism (1541-1542delGT) of the constitutive heat shock protein 70 gene has functional significance and shows evidence of association with lung cancer risk.		600816	11380	2	2004	To the best of our knowledge, this is the first report on the association between a polymorphism of a gene coding for the chaperone protein and lung cancer risk. Moreover, the simple method reported here, based on the dual-luciferase reporter assay system, can be useful for testing functional significance of polymorphisms located in introns of other genes.	Control:controls;Case non-small-cell lung cancer cases										
126547		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	7	7q11.23	HSPB1	75769858	75771546		Tang, B.  et al. 2005	16087758				Heat shock 27kDa protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001540.2	Chinese	China	CDC GDPinfo	3315	Hs.520973			Archives of neurology. 2005 Aug;62(8):1201-7	Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.		602195	17561	2	2005	 To our knowledge, this is the first report of an Hsp27 mutation in the People's Republic of China. The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. A mutation of Hsp27 may be uncommon in Chinese patients with CMT disease.											
126542	Y	preterm delivery	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Genetic Predisposition to Disease	5	5q31.1-q31.2	HSPA4	132415560	132468608		Kalish, R. B.  et al. 2004	15507967				Heat shock 70kDa protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002154.3			CDC GDPinfo	3308	Hs.90093			American journal of obstetrics and gynecology. 2004 Oct;191(4):1368-74	Polymorphisms in the tumor necrosis factor-alpha gene at position -308 and the inducible 70 kd heat shock protein gene at position +1267 in multifetal pregnancies and preterm premature rupture of fetal membranes.		601113	11377	2	2004	 Tumor necrosis factor-alpha allele 2 and/or heat shock protein-70 allele 2 carriage by the first-born fetus is associated with preterm premature rupture of membranes in multifetal pregnancies.	Cohort 101 mother-neonate pairs of multifetal pregnancies 		Tumor necrosis factor	alpha allele 2	heat shock protein-70	allele 2			Y		preterm premature rupture of fetal membranes
126543		carotid plaque	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Diabetes Mellitus, Type 2|Rupture	5	5q31.1-q31.2	HSPA4	132415560	132468608		Giacconi, R.  et al. 2005	15992611				Heat shock 70kDa protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002154.3			CDC GDPinfo	3308	Hs.90093			Mechanisms of ageing and development. 2005 Aug;126(8):866-73	1267 HSP70-2 polymorphism as a risk factor for carotid plaque rupture and cerebral ischaemia in old type 2 diabetes-atherosclerotic patients.		601113	11911	2	2005												
126544		schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	9	9q33-q34.1	HSPA5	127036952	127043430		Kakiuchi, C.  et al. 2005	16168956				Heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005347.2			CDC GDPinfo	3309	Hs.632687			Biochemical and biophysical research communications. 2005 Nov;336(4):1136-43	Functional polymorphisms of HSPA5: possibleassociation with bipolar disorder.		138120	11378	2	2005												
126539		bone loss	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	14	14q24.1	HSPA2	64072375	64079707		Schulte, C. M.  et al. 2000	11040178				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2			CDC GDPinfo	3306	Hs.432648			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		140560	22267	2	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
126540		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.1	HSPA2	64072375	64079707		Clarimon, J.  et al. 2003	12782964				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Spanish	Spain	CDC GDPinfo	3306	Hs.432648			Psychiatric genetics. 2003 Jun;13(2):85-90	Joint analysis of candidate genes related to Alzheimer's disease in a Spanish population.		140560	26228	2	2003	 The present results suggest that future association studies should be performed using a battery of polymorphisms in different and new candidate genes, taking into account the linkage disequilibrium in the region.	Case:112 Alzheimer's disease patients:Spain;Control:89:controls										
126541		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	14	14q24.1	HSPA2	64072375	64079707		Meddeb-Garnaoui, A.  et al. 2001	11334675				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2		Mediterranean Region	CDC GDPinfo	3306	Hs.432648			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		140560	26229	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
126536		sepsis	INFECTION	INF		14	14q24.1	HSPA2	64072375	64079707		Zuniga, J.  et al. 1999	11197308				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Indian		CDC GDPinfo	3306	Hs.432648			Genes and immunity. 1999 Sep;1(1):66-8	Heat-shock protein (HSP70-2) allelic frequencies in three distinct Mexican populations		140560	17558	2	1999	The Mazatecan Indians presented a high frequency of BB homozygosity (17.35%) compared to Mestizos (5%) (P = 0.01). Mexican ethnic groups present differences in distribution of BB genotype.	Cohort healthy unrelated Mestizo, Mazatecan and Nahua populations 										
126537	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	14	14q24.1	HSPA2	64072375	64079707		Debler, J.  et al. 2003	12730033				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Caucasian		CDC GDPinfo	3306	Hs.432648			European journal of medical research. 2003 Mar;8(3):120-4	Heat-shock Protein HSP70-2 Genotypes in Patients with Crohn's Disease: A More Severe Clinical Coursewith Intestinal Complications in Presence of the PstI-polymorphism		140560	17559	2	2003	 Caucasian patients carrying the HSP70-2 PstI-polymorphism seem to have a more severe form of Crohn's disease (perforations, abscesses, fistulas, conglomerate tumors). Especially, the homozygous genotype (BB) predisposes for a clinical course with high risk of surgical intervention.	Case:61 consecutive Caucasian patients with Crohn's disease;Control:61 healthy controls										
126538	Y	sepsis	INFECTION	INF	Pneumonia, Bacterial|Community-Acquired Infections|Shock, Septic|Genetic Predisposition to Disease	14	14q24.1	HSPA2	64072375	64079707		Waterer, G. W.  et al. 2003	12771604				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2		Tennessee	CDC GDPinfo	3306	Hs.432648			Critical care medicine. 2003 May;31(5):1367-72	Heat shock protein 70-2+1267 AA homozygotes have an increased risk of septic shock in adults with community-acquired pneumonia		140560	17560	2	2003	 HSP70-2+1267 genotype is a stronger predictor of septic shock in patients with community-acquired pneumonia than lymphotoxin-alpha +250 genotype.	Cohort 343 a1dults admitted with community-acquired pneumonia 998-2001 										
126533	N	Systemic Lupus Erythematosus (SLE)	IMMUNE	IMM	Lupus Erythematosus, Systemic	14	14q24.1	HSPA2	64072375	64079707	n	Vargas- Alarcon G 2000	11196683	HSP70- 2			Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Mexican	Mexico	KGB	3306	Hs.432648			Genes and immunity. 2000 Aug;1(6):367-70	Lack of association between the polymorphism at the heat-shock protein (HSP70-2) gene and systemic lupus erythematosus (SLE) in the Mexican mestizo population		140560	3225	1	2000	Our data indicate that HSP70-2 gene polymorphism as opposed to the other ethnic groups does not appear to be relevant in SLE susceptibility in Mexican patients and that the distribution of the different alleles depend on the frequency of HLA alleles associated with them.	Case:107 SLE patients;Control:158 healthy controls										
126534		Septic shock	IMMUNE	IMM	Sepsis|Genetic Predisposition to Disease	14	14q24.1	HSPA2	64072375	64079707	<0.01	Schroeder S 1999	10446818	[Linkage: HSP70-2 A/A + TNFB2/B2 haplotype]			Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	87 SS pts		KGB	3306	Hs.432648			Critical care medicine. 1999 Jul;27(7):1265-70			140560	3226	1	1999	 Our data show that the bi-allelic NcoI and PstI polymorphisms within the HSP70-HOM and HSP70-2 locus, respectively, are associated with neither susceptibility to nor outcome of severe sepsis. Moreover, we found a linkage between HSP70-2 A homozygotes and the previously reported and mortality-related homozygous genotype, TNFB2/B2, in patients suffering from severe sepsis.											
126535	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	14	14q24.1	HSPA2	64072375	64079707		Vargas-Alarcon, G.  et al. 2000	11196683				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Mexican	Mexico	CDC GDPinfo	3306	Hs.432648			Genes and immunity. 2000 Aug;1(6):367-70	Lack of association between the polymorphism at the heat-shock protein (HSP70-2) gene and systemic lupus erythematosus (SLE) in the Mexican mestizo population		140560	11376	2	2000	Our data indicate that HSP70-2 gene polymorphism as opposed to the other ethnic groups does not appear to be relevant in SLE susceptibility in Mexican patients and that the distribution of the different alleles depend on the frequency of HLA alleles associated with them.	Case:107 SLE patients;Control:158 healthy controls										
126530		high-altitude illness	OTHER	OTH	Genetic Predisposition to Disease|Altitude Sickness	6	6p21.3	HSPA1L	31885374	31890814			16333988				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Chinese	China	CDC GDPinfo	3305	Hs.558337			Cell stress & chaperones. 2005 ;10(4):349-56	Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population		140559	24886	2	2005												
126531		hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	HSPA1L	31885374	31890814		Bougacha-Elleuch, N.  et al. 2004	15236755				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Tunisian	Tunisia	CDC GDPinfo	3305	Hs.558337			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		140559	26227	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
126532		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p21.3	HSPA1L	31885374	31890814		Zee, R. Y.  et al. 2002	12082592				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		140559	28578	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
126527	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Xie, J.  et al. 2004	15165109				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2		China	CDC GDPinfo	3305	Hs.558337			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(1):28-31	Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases		140559	24883	2	2004	It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.	Control:87 healthy smoking controls;Case:88 Han Chinese patients with chronic obstructive pulmonary disease:China										
126528		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HSPA1L	31885374	31890814		Pae, C. U.  et al. 2005	15963589				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			Neuroscience research. 2005 Sep;53(1):13-Aug	Polymorphisms of heat shock protein 70 gene (HSPA1A, HSPA1B and HSPA1L) and schizophrenia.		140559	24884	2	2005												
126529		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Fekete, A.  et al. 2005	16202503				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			European journal of obstetrics, gynecology, and reproductive biology. 2005	Is preeclampsia associated with higher frequency of HSP70 gene polymorphisms?		140559	24885	2	2005	 We concluded that HSPA1B (1267)GG and HSPA1L (2437)CC genotypes were more frequent among preeclamptic than control patients, suggesting that these genotypes may play a role in the susceptibility for preeclampsia.											
126523	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HSPA1L	31885374	31890814		Niino, M.  et al. 2001	11696222				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Japanese	Japan	CDC GDPinfo	3305	Hs.558337			Tissue antigens. 2001 Aug;58(2):93-6	Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis		140559	24879	2	2001	Our data indicate that HSP70 gene polymorphisms are not relevant in the susceptibility to or the severity of Japanese MS patients.	Case Japanese MS patients;Control matched controls not otherwise specified in:abstract										
126524		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	6	6p21.3	HSPA1L	31885374	31890814		Vargas-Alarcon, G.  et al. 2002	11779758				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Mexican	Mexico	CDC GDPinfo	3305	Hs.558337			Annals of the rheumatic diseases. 2002 Jan;61(1):48-51	Heat shock protein 70 gene polymorphisms in Mexican patients with spondyloarthropathies.		140559	24880	2	2002	 In addition to the association of SpA with HLA-B27, there is a significant association of HSP70-2 and HSP70-hom alleles with SpA in Mexicans. This association seems to be independent of the susceptibility conferred by HLA-B27 in the group of patients with uSpA.	Case:150 Mexican patients with SpA (undifferentiated:spondyloarthropathy (uSpA) 68, ankylosing spondylitis (AS) 60, and reactive arthritis 22);Control:158 healthy controls										
126525	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Diabetes Mellitus|Obesity|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Zee, R. Y.  et al. 2002	12008944				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2		United States	CDC GDPinfo	3305	Hs.558337			Thrombosis and haemostasis. 2002 Apr;87(4):622-5	A prospective evaluation of the heat shock protein 70 gene polymorphisms and the risk of stroke		140559	24881	2	2002	In this large, prospective study, genetic polymorphisms in the HSP70 genes were not associated with risks of future stroke. Screening for these polymorphisms is unlikely to be a useful tool for risk assessment.	Case:338 paticipants who developed stroke from nested case-control of 14916 apparently healthy men followed over a 12-year period;Control:338 age- and smoking-matched study participants who remained healthy during follow-up										
126520		bone loss	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	6	6p21.3	HSPA1L	31885374	31890814		Schulte, C. M.  et al. 2000	11040178				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		140559	17763	2	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
126521	Y	outcome after severe injury	OTHER	OTH	Multiple Trauma|Systemic Inflammatory Response Syndrome|Multiple Organ Failure	6	6p21.3	HSPA1L	31885374	31890814		Schroder, O.  et al. 2003	12544996				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2		Germany	CDC GDPinfo	3305	Hs.558337			Critical care medicine. 2003 Jan;31(1):73-9	Heat shock protein 70 genotypes HSPA1B and HSPA1L influence cytokine concentrations and interfere with outcome after major injury		140559	22266	2	2003	 The data indicate that genetic variations of the heat shock proteins HSPA1B and HSPA1L may contribute to clinical outcome after severe injury.	Cohort 80 consecutive severe multiple trauma patients 										
126522		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Meddeb-Garnaoui, A.  et al. 2001	11334675				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2		Mediterranean Region	CDC GDPinfo	3305	Hs.558337			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		140559	24878	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
126517	Y	abacavir hypersensitivity	NORMALVARIATION	NV	Drug Hypersensitivity	6	6p21.3	HSPA1L	31885374	31890814	1e-05	Martin AM 2004	15024131	Hsp70-Hom M493T			Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Australian		KGB	3305	Hs.558337			Proceedings of the National Academy of Sciences of the United States of America. 2004 Mar;101(12):4180-5	Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.		140559	3224	1	2004		Case:200										
126518		longevity	AGING	AGE		6	6p21.3	HSPA1L	31885374	31890814		Ross, O. A.  et al. 2003	12742533	2437T			Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Irish		CDC GDPinfo	3305	Hs.558337			Experimental gerontology. 2003 May;38(5):561-5	Increased frequency of the 2437T allele of the heat shock protein 70-Hom gene in an aged Irish population		140559	11369	2	2003	These findings would support the theory that the change from a Met (non-polar and hydrophobic) residue to a Thr (polar and neutral) residue may disrupt the peptide-binding specificity of HSP 70-Hom and have an effect on its functional efficiency. One postulates that the highly significant p-value obtained for the TC genotype may infer that the presence of both the T and the C allele (heterozygosity) resulting in the generation of two different HSP 70-Hom protein species may negatively influence longevity.	Cohort a healthy aged Irish population 										
126519	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HSPA1L	31885374	31890814		Bogunia-Kubik, K.  et al. 2005	15818324				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			Transplantation. 2005 Apr;79(7):815-20	HSP70-hom gene polymorphism in allogeneic hematopoietic stem-cell transplant recipients correlates with the development of acute graft-versus-host disease.		140559	11372	2	2005	 Polymorphism of the HSP70-hom gene is associated with the development of posttransplant complications. Recipient HSP-AA homozygous genotype is a risk factor for aGVHD.	Cohort 133/64 recipients of allogeneic hematopoietic stem cells (n=133) and haploidentical and matched unrelated donors (n=64) 										
126513		high-altitude illness	OTHER	OTH	Genetic Predisposition to Disease|Altitude Sickness	6	6p21.3	HSPA1B	31903502	31906010			16333988				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Chinese	China	CDC GDPinfo	3304	Hs.274402			Cell stress & chaperones. 2005 ;10(4):349-56	Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population		603012	22265	2	2005												
126514		hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	HSPA1B	31903502	31906010		Bougacha-Elleuch, N.  et al. 2004	15236755				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Tunisian	Tunisia	CDC GDPinfo	3304	Hs.274402			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		603012	24877	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
126515		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p21.3	HSPA1B	31903502	31906010		Zee, R. Y.  et al. 2002	12082592				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		603012	28568	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
126509		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Wu, Y. R.  et al. 2003	14605873				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Human genetics. 2004 Feb;114(3):236-41	Analysis of heat-shock protein 70 gene polymorphisms and the risk of Parkinson's disease.		603012	22261	2	2003	Therefore, -110 A/C may be a functional polymorphism in the 5' promoter region of HSP70-1 and may affect susceptibility to PD.	Control:183:controls;Case:274 Parkinson's disease patients										
126511		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HSPA1B	31903502	31906010		Pae, C. U.  et al. 2005	15963589				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Neuroscience research. 2005 Sep;53(1):13-Aug	Polymorphisms of heat shock protein 70 gene (HSPA1A, HSPA1B and HSPA1L) and schizophrenia.		603012	22263	2	2005												
126512		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Fekete, A.  et al. 2005	16202503				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			European journal of obstetrics, gynecology, and reproductive biology. 2005	Is preeclampsia associated with higher frequency of HSP70 gene polymorphisms?		603012	22264	2	2005	 We concluded that HSPA1B (1267)GG and HSPA1L (2437)CC genotypes were more frequent among preeclamptic than control patients, suggesting that these genotypes may play a role in the susceptibility for preeclampsia.											
126506	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HSPA1B	31903502	31906010		Niino, M.  et al. 2001	11696222				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Japanese	Japan	CDC GDPinfo	3304	Hs.274402			Tissue antigens. 2001 Aug;58(2):93-6	Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis		603012	22258	2	2001	Our data indicate that HSP70 gene polymorphisms are not relevant in the susceptibility to or the severity of Japanese MS patients.	Case Japanese MS patients;Control matched controls not otherwise specified in:abstract										
126507		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	6	6p21.3	HSPA1B	31903502	31906010		Vargas-Alarcon, G.  et al. 2002	11779758				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Mexican	Mexico	CDC GDPinfo	3304	Hs.274402			Annals of the rheumatic diseases. 2002 Jan;61(1):48-51	Heat shock protein 70 gene polymorphisms in Mexican patients with spondyloarthropathies.		603012	22259	2	2002	 In addition to the association of SpA with HLA-B27, there is a significant association of HSP70-2 and HSP70-hom alleles with SpA in Mexicans. This association seems to be independent of the susceptibility conferred by HLA-B27 in the group of patients with uSpA.	Case:150 Mexican patients with SpA (undifferentiated:spondyloarthropathy (uSpA) 68, ankylosing spondylitis (AS) 60, and reactive arthritis 22);Control:158 healthy controls										
126508	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Diabetes Mellitus|Obesity|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Zee, R. Y.  et al. 2002	12008944				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3		United States	CDC GDPinfo	3304	Hs.274402			Thrombosis and haemostasis. 2002 Apr;87(4):622-5	A prospective evaluation of the heat shock protein 70 gene polymorphisms and the risk of stroke		603012	22260	2	2002	In this large, prospective study, genetic polymorphisms in the HSP70 genes were not associated with risks of future stroke. Screening for these polymorphisms is unlikely to be a useful tool for risk assessment.	Case:338 paticipants who developed stroke from nested case-control of 14916 apparently healthy men followed over a 12-year period;Control:338 age- and smoking-matched study participants who remained healthy during follow-up										
126503		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Klausz, G.  et al. 2005	16165702				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Scandinavian journal of gastroenterology. 2005 Oct;40(10):1197-204	Polymorphism of the heat-shock protein gene Hsp70-2, but not polymorphisms of the IL-10 and CD14 genes, is associated with the outcome of Crohn's disease.		603012	22255	2	2005	 Allele A of the Hsp70-2 gene may be associated with a less severe form of CD, suggesting the clinical value of the genotype assessment. The genetic determination of the defense mechanisms in CD appears to be associated with the polymorphism of the Hsp70-2 gene rather than that of the CD14 or IL-10 genes.											
126504	Y	sepsis	INFECTION	INF	Shock, Septic	6	6p21.3	HSPA1B	31903502	31906010		Temple, S. E.  et al. 2004	15232679				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Intensive care medicine. 2004 Sep;30(9):1761-7	The septic shock associated HSPA1B1267 polymorphism influences production of HSPA1A and HSPA1B.		603012	22256	2	2004	 HSPA1B-179C>T is in linkage disequilibrium with HSPA1B1267A>G and is associated with variable production of HSPA1B and HSPA1A production. This suggests that HSPA1B-179C>T affects HSP70 production and is a key determinant of individual susceptibility to a variety of infectious and inflammatory diseases.	Cohort 36 healthy subjects 										
126505		acute mountain sickness	OTHER	OTH		6	6p21.3	HSPA1B	31903502	31906010		Li, F. Z.  et al. 2004	15748471				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Dec;22(6):413-5	[Relationship between heat stress protein 70 gene polymorphisms and the risk of acute mountain sickness]		603012	22257	2	2004	 There is a significantly increased association of HSP70-2 B/B genotype with the risk of acute mountain sickness. Individuals with HSP70-2 B/B genotype may have weaker adaptive ability than those without this genotype under altitude stress. The results contribute to provide scientific bases for finding these individuals in specified occupational people, ensuring their health and enhancing work efficiency.	Control:173 soldiers without acute mountain sickness;Case:56 soldiers with acute mountain sickness										
126500	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Balog, A.  et al. 2005	15714129				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Pancreas. 2005 Mar;30(2):e46-50	Polymorphism of the TNF-alpha, HSP70-2, and CD14 genes increases susceptibility to severe acute pancreatitis.		603012	14359	2	2005	 High frequencies of the HSP70-2 G and the TNF-alpha -308 A alleles were associated with risk of severe acute pancreatitis. Genotype assessments may be important prognostic tools to predict disease severity and the course of acute pancreatitis. Therefore, genotype assessments may also be used to guide treatment or to identify risk populations for severe acute pancreatitis.	Control:71 healthy blood donors;Case:77 patients with acute pancreatitis										
126501	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	HSPA1B	31903502	31906010		Clarimon, J.  et al. 2003	12967056				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDPinfo	3304	Hs.274402			Journal of geriatric psychiatry and neurology. 2003 Sep;16(3):146-50	HSP70-2 (HSPA1B) is associated with noncognitive symptoms in late-onset Alzheimer's disease.		603012	17556	2	2003	These results indicate a possible association between the A2 allele and an overexpression of noncognitive symptoms in AD.	Cohort 77 Alzheimer's disease patients 										
126502	Y	outcome after severe injury	OTHER	OTH	Multiple Trauma|Systemic Inflammatory Response Syndrome|Multiple Organ Failure	6	6p21.3	HSPA1B	31903502	31906010		Schroder, O.  et al. 2003	12544996				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3		Germany	CDC GDPinfo	3304	Hs.274402			Critical care medicine. 2003 Jan;31(1):73-9	Heat shock protein 70 genotypes HSPA1B and HSPA1L influence cytokine concentrations and interfere with outcome after major injury		603012	17557	2	2003	 The data indicate that genetic variations of the heat shock proteins HSPA1B and HSPA1L may contribute to clinical outcome after severe injury.	Cohort 80 consecutive severe multiple trauma patients 										
126496	Y	nasopharyngeal carcinoma	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Jalbout M et al. 2003	12691826				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			KGB	3304	Hs.274402			Cancer letters. 2003 Apr;193(1):75-81	Polymorphism of the stress protein HSP70-2 gene is associated with the susceptibility to the nasopharyngeal carcinoma.		603012	3221	1	2003	In contrast, a significant relative risk of NPC was found associated with the HSP70-2 homozygous genotype (P2/P2) (OR=2.309; P=0.006). The P2/P2 genotype of the HSP70-2 gene may be a marker of increased risk of NPC in Tunisians.											
126498		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Jalbout, M.  et al. 2003	12691826				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Tunisian		CDC GDPinfo	3304	Hs.274402			Cancer letters. 2003 Apr;193(1):75-81	Polymorphism of the stress protein HSP70-2 gene is associated with the susceptibility to the nasopharyngeal carcinoma.		603012	14342	2	2003	The P2/P2 genotype of the HSP70-2 gene may be a marker of increased risk of NPC in Tunisians.	Case:140 Tunisian patients with primary nasopharyngeal:cancer;Control:174 healthy control subjects										
126499		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease|Body Weight	6	6p21.3	HSPA1B	31903502	31906010		Zouari Bouassida, K.  et al. 2004	15223990				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Tunisian	Tunisia	CDC GDPinfo	3304	Hs.274402			Diabetes & metabolism. 2004 Apr;30(2):175-80	Polymorphism of stress protein HSP70-2 gene in Tunisians: susceptibility implications in type 2diabetes and obesity.		603012	14352	2	2004	 These results along with those showing high frequency of P2-HSP70-2 genotype in obese Tunisians, suggest that HSP70-2 polymorphism has susceptibility implications in both obesity and diabetes.	Control:274 healthy controls;Case:280 Tunisian patients with obesity:Tunisia										
126493	Y	Alzheimer's disease; dementia	NEUROLOGICAL	NEUR	Dementia|Disease Progression	6	6p21.3	HSPA1A	31891298	31893698		Fung, H. C.  et al. 2005	15832029				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Taiwanese	Taiwan	CDC GDPinfo	3303	Hs.405994			Dementia and geriatric cognitive disorders. 2005 ;20(1):7-Jan	Heat shock protein 70 and tumor necrosis factor alpha in Taiwanese patients with dementia.		140550	19907	2	2005	Our results suggest a potential protective role for HSP70 in both VaD and AD, whereas TNF-alpha may act as a risk factor only for VaD, and not for AD.	Control:109 ethnically matched nondemented controls;Case:125/57 Alzheimer's disease patients (n=125) and vascular dementia patients (n=57)		HSP70-1	110 CC	TNF-alpha (risk factor only for VD not for AD)	1031 TC/CC			Y		Alzheimer's disease (AD) and vascular dementia (VD)
126494		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		6	6p21.3	HSPA1A	31891298	31893698		Konenkov, V. I.  et al. 2001	12687213				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		140550	22254	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
126495		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p21.3	HSPA1A	31891298	31893698		Zee, R. Y.  et al. 2002	12082592				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		140550	28558	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
126489		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HSPA1A	31891298	31893698		Pae, C. U.  et al. 2005	15963589				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Neuroscience research. 2005 Sep;53(1):13-Aug	Polymorphisms of heat shock protein 70 gene (HSPA1A, HSPA1B and HSPA1L) and schizophrenia.		140550	11373	2	2005												
126490	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Fekete, A.  et al. 2005	16202503				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			European journal of obstetrics, gynecology, and reproductive biology. 2005	Is preeclampsia associated with higher frequency of HSP70 gene polymorphisms?		140550	11374	2	2005	 We concluded that HSPA1B (1267)GG and HSPA1L (2437)CC genotypes were more frequent among preeclamptic than control patients, suggesting that these genotypes may play a role in the susceptibility for preeclampsia.											
126492		asthma; candidiasis; high-altitude illness	IMMUNE	IMM		6	6p21.3	HSPA1A	31891298	31893698		Nguyen, D. P.  et al. 2004	15292002				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Obstetrics and gynecology. 2004 Aug;104(2):293-300	Ethnic differences of polymorphisms in cytokine and innate immune system genes in pregnant women.		140550	14301	2	2004	 Investigations of the role of genetic factors affecting pregnancy outcome must be cognizant of ethnic variations when enrolling case and control subjects for studies on allele and genotype frequencies.	Cohort 198/75/114 Caucasian (n=198), African American (n=75) and Hispanic pregnant women who delivered at therm and who had no history of a preterm birth 										
126486	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension|Diabetes Mellitus|Obesity|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Zee, R. Y.  et al. 2002	12008944				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4		United States	CDC GDPinfo	3303	Hs.405994			Thrombosis and haemostasis. 2002 Apr;87(4):622-5	A prospective evaluation of the heat shock protein 70 gene polymorphisms and the risk of stroke		140550	11368	2	2002	In this large, prospective study, genetic polymorphisms in the HSP70 genes were not associated with risks of future stroke. Screening for these polymorphisms is unlikely to be a useful tool for risk assessment.	Case:338 paticipants who developed stroke from nested case-control of 14916 apparently healthy men followed over a 12-year period;Control:338 age- and smoking-matched study participants who remained healthy during follow-up										
126487		Parkinson disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Wu, Y. R.  et al. 2003	14605873				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Human genetics. 2004 Feb;114(3):236-41	Analysis of heat-shock protein 70 gene polymorphisms and the risk of Parkinson's disease.		140550	11370	2	2003	Therefore, -110 A/C may be a functional polymorphism in the 5' promoter region of HSP70-1 and may affect susceptibility to PD.	Control:183:controls;Case:274 Parkinson disease patients										
126488	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Xie, J.  et al. 2004	15165109				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4		China	CDC GDPinfo	3303	Hs.405994			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(1):28-31	Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases		140550	11371	2	2004	It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.	Control:87 healthy smoking controls;Case:88 Han Chinese patients with chronic obstructive pulmonary disease:China										
126483		acute mountain sickness	OTHER	OTH		6	6p21.3	HSPA1A	31891298	31893698		Li, F. Z.  et al. 2004	15748471				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Dec;22(6):413-5	[Relationship between heat stress protein 70 gene polymorphisms and the risk of acute mountain sickness]		140550	11365	2	2004	 There is a significantly increased association of HSP70-2 B/B genotype with the risk of acute mountain sickness. Individuals with HSP70-2 B/B genotype may have weaker adaptive ability than those without this genotype under altitude stress. The results contribute to provide scientific bases for finding these individuals in specified occupational people, ensuring their health and enhancing work efficiency.	Control:173 soldiers without acute mountain sickness;Case:56 soldiers with acute mountain sickness										
126484	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HSPA1A	31891298	31893698		Niino, M.  et al. 2001	11696222				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Japanese	Japan	CDC GDPinfo	3303	Hs.405994			Tissue antigens. 2001 Aug;58(2):93-6	Heat shock protein 70 gene polymorphism in Japanese patients with multiple sclerosis		140550	11366	2	2001	Our data indicate that HSP70 gene polymorphisms are not relevant in the susceptibility to or the severity of Japanese MS patients.	Case Japanese MS patients;Control matched controls not otherwise specified in:abstract										
126485		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies	6	6p21.3	HSPA1A	31891298	31893698		Vargas-Alarcon, G.  et al. 2002	11779758				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Mexican	Mexico	CDC GDPinfo	3303	Hs.405994			Annals of the rheumatic diseases. 2002 Jan;61(1):48-51	Heat shock protein 70 gene polymorphisms in Mexican patients with spondyloarthropathies.		140550	11367	2	2002	 In addition to the association of SpA with HLA-B27, there is a significant association of HSP70-2 and HSP70-hom alleles with SpA in Mexicans. This association seems to be independent of the susceptibility conferred by HLA-B27 in the group of patients with uSpA.	Case:150 Mexican patients with SpA (undifferentiated:spondyloarthropathy (uSpA) 68, ankylosing spondylitis (AS) 60, and reactive arthritis 22);Control:158 healthy controls										
126480	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	6	6p21.3	HSPA1A	31891298	31893698		Lin, J.  et al. 2004	15079808				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Chinese		CDC GDPinfo	3303	Hs.405994			Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):182-3	[Relationship between heat shock protein 70-hom gene polymorphism and ankylosing spondylitis]		140550	11362	2	2004	 There may be no association between the HSP70-hom gene polymorphism and ankylosing spondylitis in Chinese Han population.	Control:70 ethnically matched controls;Case:98 Chinese Han ankylosing spondylitis patients										
126481	Y	longevity	AGING	AGE		6	6p21.3	HSPA1A	31891298	31893698		Singh, R.  et al. 2004	15190186			promoter	Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Danish		CDC GDPinfo	3303	Hs.405994			Biogerontology. 2004 ;5(3):169-76	Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.		140550	11363	2	2004	An association was found between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins.	Cohort 400 aged Danish twins 										
126482	Y	sepsis	INFECTION	INF	Shock, Septic	6	6p21.3	HSPA1A	31891298	31893698		Temple, S. E.  et al. 2004	15232679				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Intensive care medicine. 2004 Sep;30(9):1761-7	The septic shock associated HSPA1B1267 polymorphism influences production of HSPA1A and HSPA1B.		140550	11364	2	2004	 HSPA1B-179C>T is in linkage disequilibrium with HSPA1B1267A>G and is associated with variable production of HSPA1B and HSPA1A production. This suggests that HSPA1B-179C>T affects HSP70 production and is a key determinant of individual susceptibility to a variety of infectious and inflammatory diseases.	Cohort 36 healthy subjects 										
126477		prostate adenocarcinoma	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	8	8q24.3	HSF1	145486090	145509188		Hoang AT et al. 2000	10702402				Heat shock transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005526.1			KGB	3297	Hs.530227			The American journal of pathology. 2000 Mar;156(3):857-64	A novel association between the human heat shock transcription factor 1 (HSF1) and prostate adenocarcinoma.			3220	1	2000												
126478		tuberculosis; leprosy, tuberculoid	INFECTION	INF	Leprosy, Tuberculoid|Tuberculosis, Pulmonary	6	6p21.3	HSPA1A	31891298	31893698		Rajalingam, R.  et al. 2000	11215307			promoter	Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Indian	India	CDC GDPinfo	3303	Hs.405994			Indian journal of experimental biology. 2000 Jul;38(7):658-62	Polymorphism in heat-shock protein 70-1 (HSP70-1) gene promoter region and susceptibility to tuberculoid leprosy and pulmonary tuberculosis in Asian Indians		140550	11360	2	2000	These findings suggest that HSP70-1 genes may play a secondary role to HLA-DR in governing susceptibility to mycobacterial infectious diseases.	Case random patients with pulmonary tuberculosis (PTB), or with tuberculoid (TT) leprosy North India;Control healthy controls North India	mycobacteria									
126479		longevity	AGING	AGE		6	6p21.3	HSPA1A	31891298	31893698		Altomare, K.  et al. 2003	14501185			promoter	Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDPinfo	3303	Hs.405994			Biogerontology. 2003 ;4(4):215-20	The allele (A)(-110) in the promoter region of the HSP70-1 gene is unfavorable to longevity in women.		140550	11361	2	2003	A significant age-related decrease of the frequency of allele (A)(-110) was observed in females. The probability ratio of 0.403 (95% confidence interval [0.163, 0.910]) computed by considering female centenarians as cases and young women (18-49 years old) as controls showed that the (A)(-110) allele is unfavorable to longevity in females.	Cohort 591 southern Italian subjects Italy 										
126475		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.1	HSD3B2	119758792	119790645		Chang Bl, B. L.  et al. 2002	11912155				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDPinfo	3284	Hs.825			Cancer research. 2002 Mar;62(6):1784-9	Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.		201810	22253	2	2002	Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. Most importantly, the subset of hereditary prostate cancer probands, whose families provided evidence for linkage at 1p13, predominantly contributed to the observed association. Additional studies are warranted to confirm these findings.	Control:222 unaffected controls;Case:245 men with prostate cancer										
126476		hyperandrogenism; premature pubarche	METABOLIC	MET	Hirsutism|Puberty, Precocious|Hyperandrogenism|Genetic Predisposition to Disease	1	1p13.1	HSD3B2	119758792	119790645		Witchel, S. F.  et al. 2001	11287026				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDPinfo	3284	Hs.825			Fertility and sterility. 2001 Apr;75(4):724-30	Candidate gene analysis in premature pubarche and adolescent hyperandrogenism		201810	24876	2	2001	Our findings suggest that the development of PP and HA can be associated with the occurrence of multiple sequence variants at five susceptibility loci, especially steroidogenic enzyme genes. This approach offers a novel paradigm to investigate and identify the genetic factors relevant to polycystic ovary syndrome.	Control:15 healthy control women;Case:29 adolescent girls with hyperandrogenism										
126471	Y	hereditary and sporadic prostate cancer susceptibility.	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.1	HSD3B2	119758792	119790645		Chang BL et al. 2002	11912155				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			KGB	3284	Hs.825			Cancer research. 2002 Mar;62(6):1784-9	Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.		201810	3213	1	2002	Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. Most importantly, the subset of hereditary prostate cancer probands, whose families provided evidence for linkage at 1p13, predominantly contributed to the observed association. Additional studies are warranted to confirm these findings.	Control:222 unaffected controls;Case:245 men with prostate cancer										
126472		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	1	1p13.1	HSD3B2	119758792	119790645		Baida, A.  et al. 2005	15767343				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDPinfo	3284	Hs.825			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):638-42	Thyroid cancer susceptibility and THRA1 and BAT-40 repeats polymorphisms.		201810	11359	2	2005	Therefore, our results indicate that the BAT-40 containing region and to a less extend the thyroid hormone receptor-alpha1 gene are related to thyroid cancer susceptibility. To our knowledge, this is the first study reporting the identification of genetic factors for thyroid cancer susceptibility.	Control:141/138 controls tested for THRA (n=141) and HSD3B2 (n=138);Case:212/207 Spanish thryoid cancer cases tested for THRA (n=212) and HSD3B2 (n=207)										
126473		hypospadias	DEVELOPMENTAL	DEV	Hypospadias	1	1p13.1	HSD3B2	119758792	119790645		Codner, E.  et al. 2004	14764821				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDPinfo	3284	Hs.825			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):957-64	Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias.		201810	17554	2	2004	We conclude that  subtle molecular abnormalities in the HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias but that this finding is uncommon.	Control:101 healthy fertile male controls;Case:90 patients with hypospadias										
126468	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.1	HSD3B1	119851348	119859204		Chang Bl, B. L.  et al. 2002	11912155				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDPinfo	3283	Hs.364941			Cancer research. 2002 Mar;62(6):1784-9	Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.		109715	17553	2	2002	Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. Most importantly, the subset of hereditary prostate cancer probands, whose families provided evidence for linkage at 1p13, predominantly contributed to the observed association. Additional studies are warranted to confirm these findings.	Control:222 unaffected controls;Case:245 men with prostate cancer										
126469		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p13.1	HSD3B1	119851348	119859204		Speirs, H. J.  et al. 2004	15097232				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDPinfo	3283	Hs.364941			Journal of hypertension. 2004 May;22(5):931-6	Association of G-protein-coupled receptor kinase 4 haplotypes, but not HSD3B1 or PTP1B polymorphisms, with essential hypertension.		109715	22252	2	2004	 Genetic variation in GRK4gamma was associated with HT in the subjects studied.	Case:168 unrelated, Caucasian essential hypertensive (HT):patients;Control:312 normotensive controls										
126470		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	1	1p13.1	HSD3B1	119851348	119859204		Roberts, R. O.  et al. 2005	16302261				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDPinfo	3283	Hs.364941			The Prostate. 2006 Mar;66(4):392-404	Polymorphisms in genes involved in sex hormone metabolism may increase risk of benign prostatic hyperplasia.		109715	24875	2	2005	 Polymorphisms in HSD3B1, CYP19, AKR1C3 genes may be associated with an enlarged prostate in older men. These data provide insights into genes that should be examined further for their potential role in the pathogenesis of BPH. (c) 2005 Wiley-Liss, Inc.											
126465	Y	hereditary and sporadic prostate cancer susceptibility.	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.1	HSD3B1	119851348	119859204		Chang BL et al. 2002	11912155				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			KGB	3283	Hs.364941			Cancer research. 2002 Mar;62(6):1784-9	Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility.		109715	3211	1	2002	Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. Most importantly, the subset of hereditary prostate cancer probands, whose families provided evidence for linkage at 1p13, predominantly contributed to the observed association. Additional studies are warranted to confirm these findings.	Control:222 unaffected controls;Case:245 men with prostate cancer										
126466		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Hyperandrogenism	1	1p13.1	HSD3B1	119851348	119859204		Carbunaru G 2004	14764797				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			KGB	3283	Hs.364941			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):783-94	The hormonal phenotype of Nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency.		109715	3212	1	2004												
126467	Y	blood pressure	CARDIOVASCULAR	CARD		1	1p13.1	HSD3B1	119851348	119859204		Rosmond, R.  et al. 2002	12054649				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDPinfo	3283	Hs.364941			Biochemical and biophysical research communications. 2002 Apr;293(1):629-32	Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure.		109715	11358	2	2002	In conclusion, a T-->C polymorphism at codon Leu(338) of exon 4 of the HSD3B1 gene is associated with elevated systolic and diastolic blood pressures. The pathogenic mechanism underlying this association is, however, uncertain from the present data and further studies are warranted.	Cohort 284 unrelated Swedish men born in 1944 										
126462	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q22	HSD17B3	98037409	98104255		Margiotti, K.  et al. 2002	12210481	G289S			Hydroxysteroid (17-beta) dehydrogenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000197.1	Italian	Italy	CDC GDPinfo	3293	Hs.477			The Prostate. 2002 Sep;53(1):65-8	Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.		605573	11354	2	2002	 Our data are consistent with a plausible role of the G289S SNP in prostate cancer susceptibility. Therefore, the HSD17B3 gene may be a plausible candidate gene for prostate cancer risk.	Case:103 Italian prostate cancer patients:Italy;Control:109 Italian disease-free centenarians										
126463		hypospadias	DEVELOPMENTAL	DEV	Hypospadias|Genetic Predisposition to Disease	9	9q22	HSD17B3	98037409	98104255		Thai, H. T.  et al. 2005	16174723				Hydroxysteroid (17-beta) dehydrogenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000197.1			CDC GDPinfo	3293	Hs.477			The Journal of clinical endocrinology and metabolism. 2005 Dec;90(12):6695-8	The Valine allele of the V89L polymorphism in the five-alpha reductase gene confers a reduced risk for hypospadias.		605573	22251	2	2005	 This finding is in accordance with the assumption that functional polymorphisms may play an important role in complex disorders such as hypospadias when several genes as well as environmental factors contribute to the etiology.											
126464		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	9	9q22	HSD17B3	98037409	98104255		Liu, Y.  et al. 2005	15654505				Hydroxysteroid (17-beta) dehydrogenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000197.1	Japanese	Japan	CDC GDPinfo	3293	Hs.477			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		605573	28152	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
126460		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757		Huber, A.  et al. 2005	16260521				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		109684	27745	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
126461		hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	16	16q24.1-q24.2	HSD17B2	80626363	80689638		Dunning, A. M.  et al. 2004	15199113				Hydroxysteroid (17-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002153.1		England	CDC GDPinfo	3294	Hs.162795			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		109685	26998	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
126456	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Wu, A. H.  et al. 2003	12584742				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Chinese	Singapore	CDC GDPinfo	3292	Hs.50727			International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7	HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore		109684	22248	2	2003	We observed an elevated joint effect of the CYP17 and HSD17B1 genes on risk	Case:188 incident breast cancer cases:Singapore;Control:671 female cohort control subjects										
126457		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757		Feigelson, H. S.  et al. 2001	11212283				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			Cancer research. 2001 Jan;61(2):785-9	Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two importantcandidates		109684	22249	2	2001		Control:1508 randomly selected controls from a a multiethnic:cohort;Case:850 incident breast cancer cases from a a multiethnic:cohort	hormone replacement therapy									
126458	Y	endometriosis	REPRODUCTION	REP	Endometriosis	17	17q11-q21	HSD17B1	37957509	37960757		Tsuchiya, M.  et al. 2005	15640252				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Japanese	Japan	CDC GDPinfo	3292	Hs.50727			Human reproduction (Oxford, England). 2005 Apr;20(4):974-8	Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19		109684	22250	2	2005	 Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.	Cohort 138 women undergoing diagnostic laparoscopy 										
126453	Y	estrogens	UNKNOWN	UNK	Breast Neoplasms|Endometrial Neoplasms|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757		Setiawan, V. W.  et al. 2004	14973105				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			Cancer epidemiology, biomarkers & prevention. 2004 Feb;13(2):213-9	HSD17B1 gene polymorphisms and risk of endometrial and breast cancer.		109684	11352	2	2004	These findings suggest that the HSD17B1 may be associated with circulating estradiol levels and interact with body mass index in postmenopausal breast cancer.	Case:222/1007 endometrial cancer cases (n=222) and breast cancer:cases (n=1007):Cohort:30 women from the Nurses' Health Study;Control:666/1441 controls matched for endometrial cancer cases (n=666) and breast cancer cases (n=1441)										
126454	Y	estramustine phospate side-effects	UNKNOWN	UNK	Prostatic Neoplasms|Edema	17	17q11-q21	HSD17B1	37957509	37960757		Suzuki, M.  et al. 2005	15733111				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			International journal of urology. 2005 Feb;12(2):166-72	Single-nucleotide polymorphisms in the 17beta-hydroxysteroid dehydrogenase genes might predict the risk of side-effects of estramustine phosphate sodium in prostate cancer patients.		109684	11353	2	2005	 These preliminary data demonstrated that analyses of SNP in the HSD17B genes might predict the occurrence of side-effects from EMP.	Cohort 44 Japanese patients with newly diagnosed prostate cancer 										
126455		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757			16311626				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			PLoS Genet    2005    1(5)    e68	Genetic Variation in the HSD17B1 Gene and Risk of Prostate Cancer		109684	17552	2	2005												
126450	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q22	HSD11B2	66022536	66028955		Poch, E.  et al. 2001	11711524				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDPinfo	3291	Hs.1376			Hypertension. 2001 Nov;38(5):1204-9	Molecular basis of salt sensitivity in human hypertension: evaluation ofRenin-Angiotensin-aldosterone system gene polymorphisms		218030	26996	2	2001	In conclusion, the I allele of ACE I/D polymorphism is significantly associated to salt-sensitive hypertension. The BP response to high salt intake was different among genotypes of ACE I/D and 11betaHSD G534A, suggesting that these polymorphisms may be potentially useful genetic markers of salt sensitivity.	Cohort 71 patients with essential hypertension 										
126451		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q22	HSD11B2	66022536	66028955		Iwai, N.  et al. 2004	15167446				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2	Japanese	Japan	CDC GDPinfo	3291	Hs.1376			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		218030	28225	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
126452	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Wu AH 2003	12584742	HSD17B1 AA			Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Chinese women in Singapore	Singapore	KEW	3292	Hs.50727			International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7	HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore		109684	3219	1	2003	We observed an elevated joint effect of the CYP17 and HSD17B1 genes on risk	Case:188 incident breast cancer cases:Singapore;Control:671 female cohort control subjects										
126447	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q22	HSD11B2	66022536	66028955		Williams, T. A.  et al. 2005	15673310				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDPinfo	3291	Hs.1376			Kidney international. 2005 Feb;67(2):631-7	Role of HSD11B2 polymorphisms in essential hypertension and the diuretic response to thiazides.		218030	11351	2	2005	 This study highlights the role of this HSD11B2 polymorphism in sodium handling and is consistent with a role in the BP response to thiazide diuretics.	Cohort 377 genetically homogeneous essential hypertensives North Sardinia 	thiazides									
126448	Y	nephropathy, diabetic; diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1	16	16q22	HSD11B2	66022536	66028955		Lavery, G. G.  et al. 2002	11916625				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDPinfo	3291	Hs.1376			European journal of endocrinology. 2002 Apr;146(4):553-8	Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy.		218030	17550	2	2002	 Weak associations are reported between the HSD11B2 gene, type 1 diabetes mellitus and nephropathy. The increased frequency of HSD11B2 short alleles in the diabetic groups may reflect reduced renal 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) activity and may, in part, explain the enhanced salt sensitivity observed in patients with type 1 diabetes.	Case:145 patients with type 1 diabetes with a long duration of non-nephropathy (LDNN);Case:150 patients with type 1 diabetes and nephropathy;Control:151 normal controls										
126449		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q22	HSD11B2	66022536	66028955		Mariniello, B.  et al. 2005	16109323				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDPinfo	3291	Hs.1376			American journal of hypertension. 2005 Aug;18(8):1091-8	Analysis of the 11beta-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in human essential hypertension.		218030	17551	2	2005	 Two different polymorphisms of the HSD11B2 gene were observed. The association of both polymorphisms was significantly higher in hypertensive subjects than in control subjects. Its role should be further investigated, but it could be related to other mutations in the promoter region of HSD11B2 or to the modulation of 11beta-HSD2 mRNA processing in hypertensive subjects.											
126444	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1	16	16q22	HSD11B2	66022536	66028955		Lavery GG et al. 2002	11916625				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			KGB	3291	Hs.1376			European journal of endocrinology. 2002 Apr;146(4):553-8	Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2) type 1 diabetes mellitus and diabetic nephropathy.		218030	3216	1	2002	 Weak associations are reported between the HSD11B2 gene, type 1 diabetes mellitus and nephropathy. The increased frequency of HSD11B2 short alleles in the diabetic groups may reflect reduced renal 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) activity and may, in part, explain the enhanced salt sensitivity observed in patients with type 1 diabetes.	Case:145 patients with type 1 diabetes with a long duration of non-nephropathy (LDNN);Case:150 patients with type 1 diabetes and nephropathy;Control:151 normal controls										
126445	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q22	HSD11B2	66022536	66028955		Watson B Jr et al. 1996	8794836				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			KGB	3291	Hs.1376			Hypertension. 1996 Sep;28(3):478-82	Genetic association of 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks.		218030	3217	1	1996												
126446		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q22	HSD11B2	66022536	66028955		White PC et al. 2001	11531933				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			KGB	3291	Hs.1376			Clinical endocrinology. 2001 Aug;55(2):249-52	Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase to hypertension in Black people.		218030	3218	1	2001	 HSD11B2 does not have a strong influence on the development of essential hypertension in Black people, but weaker effects on blood pressure cannot be ruled out.											
126441		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	1	1q32-q41	HSD11B1	207926172	207974918		Millan, J. L.  et al. 2005	15827106				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			CDC GDPinfo	3290	Hs.195040			The Journal of clinical endocrinology and metabolism. 2005 Jul;90(7):4157-62	A study of the hexose-6-phosphate dehydrogenase gene R453Q and 11beta-hydroxysteroid dehydrogenase type 1 gene 83557insA polymorphisms in the polycystic ovary syndrome.		600713	22246	2	2005	 Digenic triallelic genotypes of the H6PD R453Q variant and HSD11B1 83557insA mutation do not always cause CRD. On the contrary, the H6PD R453Q variant is associated with PCOS and might influence its phenotype by influencing adrenal activity.	Case:116 polycystic ovary syndrome patients;Control:76 non-hyperandrogenic controls										
126442		body mass; insulin; polycystic ovary syndrome; hormone disturbance; sex hormones	METABOLIC	MET	Polycystic Ovary Syndrome	1	1q32-q41	HSD11B1	207926172	207974918		White, P. C.   2005	16091483				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2		Texas	CDC GDPinfo	3290	Hs.195040			The Journal of clinical endocrinology and metabolism. 2005 Oct;90(10):5880-3	Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample.		600713	22247	2	2005	 Previously reported associations of ACRD with HSD11B1 and H6PD alleles represent ascertainment bias. However, rare severe mutations in these genes cannot be ruled out.											
126443		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32-q41	HSD11B1	207926172	207974918		Iwai, N.  et al. 2004	15167446				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2	Japanese	Japan	CDC GDPinfo	3290	Hs.195040			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		600713	28151	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
126438	Y	diabetes, type 2; insulin; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	1	1q32-q41	HSD11B1	207926172	207974918		Nair, S.  et al. 2004	15156315				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2		Arizona|Great Britain	CDC GDPinfo	3290	Hs.195040			Diabetologia. 2004 Jun;47(6):1088-95	11beta-Hydroxysteroid dehydrogenase Type 1: geneticpolymorphisms are associated with Type 2 diabetes in Pima Indians independently of obesity and expression in adipocyte and muscle.		600713	17546	2	2004	We confirmed that adipocyte 11beta-HSD1 mRNA concentrations were associated with adiposity, and showed that genetic variations in the HSD11B1 gene were associated with Type 2 diabetes mellitus, plasma insulin concentrations and insulin action, independent of obesity. The variable adipose expression might not be a primary consequence of these HSD11B1 SNPs. Therefore, it is possible that the HSD11B1 gene is under tissue-specific regulation, and has tissue-specific consequences.	Cohort full-blooded Pima Indians 										
126439	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Obesity	1	1q32-q41	HSD11B1	207926172	207974918		Franks, P. W.  et al. 2004	15452033				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2	Indian	Arizona	CDC GDPinfo	3290	Hs.195040			Hypertension. 2004 Nov;44(5):681-8	Interaction between an 11betaHSD1 gene variant and birth era modifies the risk of hypertension in Pima Indians.		600713	17547	2	2004	These data demonstrate association between genetic variability at 11betaHSD1 with hypertension, but these effects are modified by environmental factors.	Cohort 918 American Pima Indians 	birth date family history obesity									
126440	N	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	1	1q32-q41	HSD11B1	207926172	207974918		Robitaille, J.  et al. 2004	15536220				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2	Canadian		CDC GDPinfo	3290	Hs.195040			Obesity research. 2004 Oct;12(10):1570-5	Molecular screening of the 11beta-HSD1 gene in men characterized by the metabolic syndrome.		600713	17548	2	2004	In conclusion, molecular screening of the 11beta-HSD1 gene did not reveal any sequence variations that can significantly contribute to the etiology of the metabolic syndrome among French-Canadians.	Cohort 217 men Cohort 36 French-Canadian men with metabolic syndrome 										
126435	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32-q41	HSD11B1	207926172	207974918		Melander, O.  et al. 2000	11114699				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			CDC GDPinfo	3290	Hs.195040			Journal of human hypertension. 2000 Dec;14(12):819-23	Association between a variant in the 11beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension		600713	17543	2	2000	over-representation of individuals homozygous for the G534 allele in hypertensive patients compared with control subjects suggests that a mutation in linkage disequilibrium with the G534A polymorphism could increase susceptibility to primary hypertension	Control:263 normotensive control subjects.;Case:292 patients with primary hypertension										
126436	N	body mass; obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	1	1q32-q41	HSD11B1	207926172	207974918		Draper, N.  et al. 2002	12414862				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			CDC GDPinfo	3290	Hs.195040			The Journal of clinical endocrinology and metabolism. 2002 Nov;87(11):4984-90	Association studies between microsatellite markers within the gene encoding human 11beta-hydroxysteroid dehydrogenase type 1 and body mass index, waist to hip ratio, and glucocorticoid metabolism.		600713	17544	2	2002	No association was observed between HSD11B1 genotype and BMI in either population. These data suggest that 11beta-HSD1 is not a major factor in explaining genetic susceptibility to obesity per se. However, weak associations between HSD11B1	Case:234 obese Danish men from the ADIGEN study;Control:323 randomly selected controls from the draftee:population:Cohort:413 normal individuals enrolled in the MONICA study of cardiovascular risk factors										
126437		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q32-q41	HSD11B1	207926172	207974918		De Quervain, D. J.  et al. 2003	14583441				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2		Europe	CDC GDPinfo	3290	Hs.195040			Human molecular genetics. 2004 Jan;13(1):47-52	Glucocorticoid-related genetic susceptibility for Alzheimer's disease.		600713	17545	2	2003	Our results indicate that a functional variation in the glucocorticoid system increases the risk for AD which may have important implications for the diagnosis and treatment of this disease.	Control unrelated control subjects;Case:814 Alzheimer's disease patients										
126431		obesity	METABOLIC	MET	Insulin Resistance|Obesity	1	1q32-q41	HSD11B1	207926172	207974918		Wake DJ 2003	12915696				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			KGB	3290	Hs.195040			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3983-8	Local and systemic impact of transcriptional up-regulation of 11beta-hydroxysteroid dehydrogenase type 1 in adipose tissue in human obesity.		600713	3214	1	2003												
126432	Y	body composition	METABOLIC	MET	Insulin Resistance	1	1q32-q41	HSD11B1	207926172	207974918		Gelernter-Yaniv L 2003	12861241				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			KGB	3290	Hs.195040			International journal of obesity and related metabolic disorders. 2003 Aug;27(8):983-6	Associations between a polymorphism in the 11 beta hydroxysteroid dehydrogenase type I gene and body composition.		600713	3215	1	2003	We conclude an intronic 11betaHSD-1 gene polymorphism is associated with greater body mass, altered body composition, and insulin resistance in children. 11betaHSD-1 may be one of the genes relevant for pediatric-onset obesity and its complications.	Case:103 healthy overweight children;Control:160 nonoverweight children										
126433	Y	obesity	METABOLIC	MET	Insulin Resistance	1	1q32-q41	HSD11B1	207926172	207974918		Gelernter-Yaniv, L.  et al. 2003	12861241				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			CDC GDPinfo	3290	Hs.195040			International journal of obesity and related metabolic disorders. 2003 Aug;27(8):983-6	Associations between a polymorphism in the 11 beta hydroxysteroid dehydrogenase type I gene and body composition.		600713	11348	2	2003	We conclude an intronic 11betaHSD-1 gene polymorphism is associated with greater body mass, altered body composition, and insulin resistance in children. 11betaHSD-1 may be one of the genes relevant for pediatric-onset obesity and its complications.	Case:103 healthy overweight children;Control:160 nonoverweight children										
126428		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q35.2	HRH2	175017644	175045851		Mancama, D.  et al. 2002	12429384				Histamine receptor H2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022304.1			CDC GDPinfo	3274	Hs.247885			Neuroscience letters. 2002 Nov;333(3):207-11	Investigation of promoter variants of the histamine 1 and 2 receptors in schizophrenia and clozapine response.		142703	22245	2	2002	We have concluded that the participation of these variants in the disorder is unlikely, particularly in view of their apparent lack of function and unlikely influence on receptor expression. However their nature alludes to the potential presence of other more important alterations further along these regions, where sequences encoding alternate promoters have recently been identified for each receptor that may yet be found to harbour such polymorphisms.	Cohort 158 unrelated schizophrenics who were refractory and/or intolerant to conventional antipsychotics 	clozapine									
126429		urticaria/angioedema	OTHER	OTH	Angioedema|Urticaria|Angioedema	5	5q35.2	HRH2	175017644	175045851		Choi, J. H.  et al. 2005	15953854				Histamine receptor H2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022304.1			CDC GDPinfo	3274	Hs.247885			Journal of Korean medical science. 2005 Jun;20(3):367-72	Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema.		142703	24874	2	2005												
126430		hyperparathyroidism	METABOLIC	MET	Hyperparathyroidism	1	1q25	CDC73	191357783	191487679		Warner, J.  et al. 2004	14985373				cell division cycle 73, Paf1/RNA polymerase II complex component, homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024529.3		Australia	CDC GDPinfo	79577	Hs.576497			Journal of medical genetics. 2004 Mar;41(3):155-60	Genetic testing in familial isolated hyperparathyroidism: unexpected results and theirimplications.		607393	20759	2	2004	These findings strongly favour a recommendation for MEN1 and CASR genotyping of patients with multiglandular FIHP, irrespective of urinary calcium excretion. However, it appears that HRPT2 genotyping should be reserved for cases in which other features of the HPT-JT phenotype have occurred in the kindred. Also apparent is the need for further investigation to identify additional genes associated with FIHP.	Cohort 22 unrelated subjects with familial isolated hyperparathyroidism phenotype 										
126424		schizophrenia	PSYCH	PSY	Schizophrenia	3	3p25	HRH1	11269399	11279415		Mancama, D.  et al. 2002	12429384			promoter	Histamine receptor H1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000861.2			CDC GDPinfo	3269	Hs.1570			Neuroscience letters. 2002 Nov;333(3):207-11	Investigation of promoter variants of the histamine 1 and 2 receptors in schizophrenia and clozapine response.		600167	17542	2	2002	We have concluded that the participation of these variants in the disorder is unlikely, particularly in view of their apparent lack of function and unlikely influence on receptor expression. However their nature alludes to the potential presence of other more important alterations further along these regions, where sequences encoding alternate promoters have recently been identified for each receptor that may yet be found to harbour such polymorphisms.	Cohort 158 unrelated schizophrenics who were refractory and/or intolerant to conventional antipsychotics 	clozapine									
126425		urticaria/angioedema	OTHER	OTH	Angioedema|Urticaria|Angioedema	3	3p25	HRH1	11269399	11279415		Choi, J. H.  et al. 2005	15953854				Histamine receptor H1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000861.2			CDC GDPinfo	3269	Hs.1570			Journal of Korean medical science. 2005 Jun;20(3):367-72	Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema.		600167	22244	2	2005												
126426	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q35.2	HRH2	175017644	175045851	n	Sasaki Y 2000	10752634	G543A			Histamine receptor H2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022304.1	Japanese		KCB	3274	Hs.247885			Immunogenetics. 2000 Mar;51(3):238-40			142703	3209	1	2000												
126427	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q35.2	HRH2	175017644	175045851	n	Ito C et al. 2000	10822343				Histamine receptor H2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022304.1			KGB	3274	Hs.247885			Molecular psychiatry. 2000 Mar;5(2):159-64	Histamine H2 receptor gene variants: lack of association with schizophrenia.		142703	3210	1	2000												
126420		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		De Jong, M. M.  et al. 2002	12433710				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		190020	28150	2	2002	Review article											
126423		weight gain	METABOLIC	MET	Body Weight|Schizophrenia	3	3p25	HRH1	11269399	11279415		Hong, C. J.  et al. 2002	12218662				Histamine receptor H1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000861.2			CDC GDPinfo	3269	Hs.1570			Psychiatric genetics. 2002 Sep;12(3):169-71	Genetic variant of the histamine-1 receptor (glu349asp) and body weight change during clozapine treatment.		600167	17541	2	2002	Analysis of body weight change after 4 months of clozapine treatment showed no relationship with the H genotype. Further exploration of the other H genotypes and the antipsychotic-induced body weight change may help in the understanding of the mechanisms of antipsychotic-induced body weight gain and in the choice of patient's antipsychotic regimens	Cohort 88 schizophrenic patients treated with clozapine 	clozapine									
126417		pancreatitis	IMMUNE	IMM	Pancreatic Neoplasms|Cocarcinogenesis|Exocrine Pancreatic Insufficiency|Pancreatitis|Calcinosis|Rupture, Spontaneous|Chronic Disease|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Arvanitakis, M.  et al. 2004	15202051				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Endoscopy. 2004 Jun;36(6):535-42	Predictive factors for pancreatic cancer in patients with chronic pancreatitis in association with K-ras gene mutation.		190020	17539	2	2004	 K- ras gene mutations occur in chronic pancreatitis and are associated with evolution towards PAC. The absence of pancreatic calcifications and the presence of exocrine insufficiency were identified as additional predictive factors for the development of PAC.	Cohort 146 patients with chronic pancreatitis 										
126418		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Houlston, R. S.  et al. 2001	11487538				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		190020	26226	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
126419	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11p15.5	HRAS	522241	525550		Sanyal, S.  et al. 2003	14688016				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		190020	26995	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
126414	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Fibrosis|Pulmonary Disease, Chronic Obstructive	11	11p15.5	HRAS	522241	525550			12838617				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Genetika. 2003 May;39(5):694-701	[Development of chronic obstructive pulmonary disease correlates with mini- and microsatellite locus instability]		190020	17536	2	2003	These findings suggest that rare alleles at the Hras1 locus may be associated with hereditary predisposition to COPD and the development of pneumofibrosis, while mutations in microsatellite markers result from exposure to tobacco smoke carcinogens and are not associated with the appearance of these pathologies.	Control healthy smoking and nonsmoking individuals;Case:53 chronic obstructive pulmonary disease (COPD):patients	smoking (tobacco)									
126415	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Tamimi, R. M.  et al. 2003	14693748				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1528-30	The HRAS1 Variable Number of Tandem Repeats and Risk of Breast Cancer		190020	17537	2	2003	These results suggest that there is no overall association between rare alleles of the HRAS1 VNTR and breast cancer.	Case:717 incident breast cancer cases from the Nurses' Healthy Study cohort;Control:798:controls										
126416	Y	thyroid cancer	CANCER	CAN	Adenocarcinoma, Papillary|Thyroid Neoplasms|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550			15098441				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2		Byelarus	CDC GDPinfo	3265	Hs.37003			Tsitol Genet. 2004 Jan-Feb;38(1):14-Sep	[Study of HRas1 minisatellite frequencies in children with thyroid papillary cancer]		190020	17538	2	2004	We can suppose that the "rare" alleles of HRas1 minisatellite are associated with increased risk of papillary thyroid cancer formation in children and adolescents after Chernobyl accident.	Case:32 patients who suffered from papillary carcinoma and underwent operation in 1996-2001;Control:75 Celorussian residents										
126411	N	glioma	CANCER	CAN	Glioma|Astrocytoma|Glioblastoma|Oligodendroglioma|Brain Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Chen, P.  et al. 2000	11303621				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2		California	CDC GDPinfo	3265	Hs.37003			Neuro-oncology. 2000 Apr;2(2):120-4	Lack of association of rare alleles in the HRAS variable number of tandem repeats (VNTR) region with adult glioma.		190020	11343	2	2000	Our data do not suggest an excess of HRAS rare alleles among adult glioma cases.	Control:65:controls six San Francisco Bay Area counties;Case:73 white adults who had gliomas six San Francisco Bay Area counties										
126412		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11p15.5	HRAS	522241	525550		Van Gils, C. H.  et al. 2002	12115522				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			International journal of cancer. Journal international du cancer. 2002 Aug;100(4):414-8	HRAS1 variable number of tandem repeats polymorphism and risk of bladder cancer.		190020	11345	2	2002	The number of incident cases was too small to draw firm conclusions on a possible association with a subgroup of tumors with a poor prognosis	Control:203 hospital-based controls frequency-matched on ethnicity, gender and age.;Case:230 bladder cancer cases										
126413	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11p15.5	HRAS	522241	525550		Johne, A.  et al. 2003	12540507				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDPinfo	3265	Hs.37003			Cancer epidemiology, biomarkers & prevention. 2003 Jan;12(1):68-70	A Single Nucleotide Polymorphism in the Human H-ras Proto-oncogene Determines the Risk of Urinary Bladder Cancer		190020	11346	2	2003	We conclude that  individuals harboring the homozygous 81C-genotype of the H-ras proto-oncogene are at an increased risk of bladder cancer.	Control:254 hospital controls;Case:312 patients with histologically verified bladder:cancer										
126406	Y	colorectal carcinomas	CANCER	CAN	Colorectal Neoplasms	11	11p15.5	RAS	25249446	25295121		Smith DR et al. 1995	7574421				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Annals of the Academy of Medicine, Singapore. 1995 May;24(3):393-8	Association of activated proto-oncogenes ras and myc in colorectal carcinomas.			3203	1	1995												
126407	Y	tumor progression of BCR/ABL negative chronic myeloproliferative disorders	CANCER	CAN	Myeloproliferative Disorders	11	11p15.5	RAS	25249446	25295121		Gaidano G et al. 1993	8321046				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Leukemia. 1993 Jul;7(7):946-53	Mutations in the P53 and RAS family genes are associated with tumor progression of BCR/ABL negative chronic myeloproliferative disorders.			3204	1	1993												
126408	Y	schistosomiasis	CANCER	CAN	Schistosomiasis|Carcinoma, Squamous Cell|Bladder Neoplasms|Cell Transformation, Neoplastic	11	11p15.5	RAS	25249446	25295121		Fujita J et al. 1987	3117747				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Japanese journal of cancer research. 1987 Sep;78(9):915-20	Frequency of active ras oncogenes in human bladder cancers associated with schistosomiasis.			3205	1	1987												
126409	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Nefedov MD et al. 1990	2086347				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			KGB	3265	Hs.37003			Genetika. 1990 Dec;26(12):2226-31	Analysis of the association of inherited predisposition to breast cancer with c-Ha-ras-1 oncogene alleles trans Analiz assotsiatsii nasledstvennoi predraspolozhennosti k raku molochnoi zhelezy s allel'nymi variantami c-Ha-ras-1 onkogena.		190020	3206	1	1990												
126402	Y	adenocarcinomas of the parotid gland	CANCER	CAN	Adenocarcinoma|Parotid Neoplasms	11	11p15.5	HRAS	522241	525550		van Halteren HK et al. 1994	8168996				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			KGB	3265	Hs.37003			International journal of cancer. Journal international du cancer. 1994 May;57(3):362-4	Association of H-ras mutations with adenocarcinomas of the parotid gland.		190020	3199	1	1994												
126403	Y	cervical cancer	CANCER	CAN	Papovaviridae Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Uterine Cervical Dysplasia	11	11p15.5	RAS	25249446	25295121		Alonio LV et al. 2000	11436698				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Medicina. 2000 ;60(6):895-901	Ha-ras and p53 gene mutations scanned by PCR-SSCP in premalignant and malignant lesions of the uterine cervix associated with human papillomavirus trans Mutaciones en genes Ha-ras y p53 detectadas mediante PCR-SSCP en lesiones premalignas y malignas de			3200	1	2000												
126404	Y	nodular type of malignant melanoma	OTHER	OTH	Melanoma	11	11p15.5	RAS	25249446	25295121		Jafari M et al. 1995	7860615				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Journal of cancer research and clinical oncology. 1995 ;121(1):23-30	Analysis of ras mutations in human melanocytic lesions: activation of the ras gene seems to be associated with the nodular type of human malignant melanoma.			3201	1	1995												
126405	Y	anomalous connection of pancreatobiliary ducts	OTHER	OTH	Adenoma|Adenocarcinoma|Gallbladder Neoplasms|Hyperplasia	11	11p15.5	RAS	25249446	25295121		Iwase T et al. 1997	9356872				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.505033			Hepato-gastroenterology. 1997 Sep-Oct;44(17):1457-62	Ras gene point mutations in gallbladder lesions associated with anomalous connection of pancreatobiliary ducts.			3202	1	1997	 Alteration of the K-ras oncogene appears to be involved in the early stages of gallbladder carcinogenesis when in association with ACPBD. The results further suggest that hyperplasia in cases with ACPBD may be a significant pre-cancerous lesion.											
126399	N	alopecia, androgenetic	METABOLIC	MET	Alopecia	8	8p21.2	HR	22027876	22043975		Hillmer, A. M.  et al. 2002	11966690				Hairless homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005144.3			CDC GDPinfo	55806	Hs.272367			The British journal of dermatology. 2002 Apr;146(4):601-8	The hairless gene in androgenetic alopecia: resultsof a systematic mutation screening and a family-based association approach		602302	17535	2	2002	 Our results do not provide evidence for a strong involvement of HR in the development of AGA, although a minor role cannot be fully excluded.	Cohort 46 unrelated men with androgenetic alopecia 										
126400	Y	H-ras allele loss	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11p15.5	Hras	522241	525550		Vachtenheim J et al. 1994	8118795				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ650835			KGB	3265	Hs.37003			Cancer research. 1994 Mar;54(5):1145-8	Hypomethylation of CCGG sites in the 3' region of H-ras protooncogene is frequent and is associated with H-ras allele loss in non-small cell lung cancer.		190020	3197	1	1994	We conclude that  hypomethylation at specific sites in the 3' region is associated with loss of heterozygosity for the c-Ha-ras gene in non-small cell lung cancer. The finding that, in informative samples, hypomethylation occurs 2-3 times more frequently than allelic loss suggests that it might be a change contributing or predisposing to a genetic instability that can ultimately lead to c-Ha-ras allelic deletions found in tumor DNA.											
126401	Y	patient prognosis A retrospective study of 103 cases	OTHER	OTH	Neuroblastoma	11	11p15.5	HRAS	522241	525550		Tanaka T et al. 1991	1873783				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			KGB	3265	Hs.37003			Cancer. 1991 Sep;68(6):1296-302	A significant association of Ha-ras p21 in neuroblastoma cells with patient prognosis. A retrospective study of 103 cases.		190020	3198	1	1991												
126395		lead toxicity	METABOLIC	MET	Lead Poisoning	X	Xq26.1	HPRT1	133421922	133462362		Van Larebeke, N.  et al. 2004	15204312				Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000194.1		Belgium	CDC GDPinfo	3251	Hs.412707			Biomarkers. 2004 Jan-Feb;9(1):71-84	Differences in HPRT mutant frequency among middle-aged Flemish women in association with area of residence and blood lead levels.		308000	17533	2	2004	These data are consistent with an indirect genotoxic effect of lead and with an antimutagenic effect of selenium.	Cohort 99 non-smoking women aged 50-65 years Antwerp and Peer, Belgium 										
126396		smoking behavior	CHEMDEPENDENCY	CHEM		X	Xq26.1	HPRT1	133421922	133462362		Vivek Kumar, P. R.  et al. 2004	15491638				Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000194.1	Indian		CDC GDPinfo	3251	Hs.412707			Mutation research. 2004 Nov;556(2-Jan):107-16	Studies on the HPRT mutant frequency in T lymphocytes from healthy Indian male population as a function of age and smoking.		308000	17534	2	2004	The results obtained in this study showed a good comparison with those reported in different populations of the world.	Cohort 44 healthy individuals (23 non-smokers and 21 smokers) of an Indian male population India 										
126397		lung cancer	CANCER	CAN	Lung Neoplasms	X	Xq26.1	HPRT1	133421922	133462362		Hou, S. M.  et al. 2001	11219770				Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000194.1			CDC GDPinfo	3251	Hs.412707			Cancer epidemiology, biomarkers & prevention. 2001 Feb;10(2):133-40	Differential interactions between GSTM1 and NAT2 genotypes on aromatic DNA adduct level and HPRT mutant frequency in lung cancer patients and population controls.		308000	22243	2	2001	These findings suggest that the influence of NAT2 genotype on AL and MF and its interaction with GSTM1 genotype may be dose dependent. The NAT2 slow genotype, in particular when combined with the GSTM1 null genotype, may confer increased susceptibility to adduct formation, gene mutation, and lung cancer when the smoking dose is low.	Control:152/144 controls (n=152, 155 ever smokers and 154 never smokers) analyzed for the HPRT mutant frequency and controls analyzed for aromatic DNA adduct level (n=144, 113 current/recent smokers and 201 former/never smokers);Case:157/170 cases of lung cancer analyzed for the HPRT mutant frequency (n=157) and cases of lung cancer analyzed for aromatic DNA adduct level (n=170)	smoking (tobacco)									
126392		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	19	19q11-q13.2	HPN	40223249	40249315		Burmester, J. K.  et al. 2004	15583422				Hepsin (transmembrane protease, serine 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182983.1			CDC GDPinfo	3249	Hs.182385			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		142440	26225	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
126394	Y	cytogenetic studies	OTHER	OTH	DNA Damage	X	Xq26.1	HPRT1	133421922	133462362		Perera, F.  et al. 2002	12376523				Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000194.1		Poland	CDC GDPinfo	3251	Hs.412707			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1134-7	In utero DNA damage from environmental pollution is associated with somatic gene mutation in newborns.		308000	17532	2	2002	These results provide the first demonstration of a molecular link between somatic mutation in the newborn and transplacental exposure to common air pollutants, a finding that is relevant to cancer risk assessment.	Cohort 67/64 mothers (n=67) and newborns (n=64) Krakow, Poland 										
126388		asthma	IMMUNE	IMM	Crohn Disease|Asthma	16	16q22.1	HP	70646008	70652458			16224193				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			International archives of allergy and immunology. 2005 Dec;138(4):328-33	Genetic polymorphism and TH1/TH2 orientation		140100	24872	2	2005	 The pattern of differences between bronchial asthma versus CD is compatible with the hypothesis that some of the genetic systems considered contribute to Th1/Th2 orientation.											
126390		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458			11436564				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		140100	27744	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
126391		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p25.1	HPCAL1	10360490	10485194		Kamide, K.  et al. 2005	15834280				Hippocalcin-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002149.2	Japanese		CDC GDPinfo	3241	Hs.580427			Journal of hypertension. 2005 May;23(5):955-60	Hypertension susceptibility genes on chromosome 2p24-p25 in a general Japanese population.		600207	17531	2	2005	 Our study suggests that GREB1 and HPCAL1 are candidate hypertension-susceptibility genes in the Japanese general population and supports previous studies that also identified hypertension-related loci in this narrow region.											
126384	Y	myocardial infarct; cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Restenosis|Myocardial Infarction|Diabetic Angiopathies	16	16q22.1	HP	70646008	70652458		Roguin, A.  et al. 2003	12941730				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Diabetes care. 2003 Sep;26(9):2628-31	Haptoglobin genotype is predictive of major adverse cardiac events in the 1-year period after percutaneous transluminal coronary angioplasty in individuals with diabetes.		140100	17528	2	2003	 The Hp genotype seems to be highly predictive of adverse cardiac events, particularly myocardial infarction, in the 1-year period after PTCA. Determination of the Hp genotype may be useful in the evaluation of new therapies to reduce cardiovascular risk after PTCA.	Cohort 935 diabetic patients treated with oral agents and/or insulin were followed for 1 year after PTCA 										
126385	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Complications	16	16q22.1	HP	70646008	70652458		Levy, A. P.  et al. 2004	15019547				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Atherosclerosis. 2004 Feb;172(2):361-5	Haptoglobin phenotype and prevalent coronary heart disease in the Framingham offspring cohort.		140100	17529	2	2004	 These data are consistent with an interaction between Hp type and diabetes in the prevalence of CHD. These findings will need to be confirmed in other cohorts and in longitudinal studies.	Cohort 3,273 individuals from a large community-based cohort, the Framingham Heart Offspring Study 										
126386		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Bienzle, U.  et al. 2005	15960705				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Ghanaian	Ghana	CDC GDPinfo	3240	Hs.134406			Tropical medicine & international health. 2005 Jul;10(7):668-71	Limited influence of haptoglobin genotypes on severe malaria in Ghanaian children.		140100	17530	2	2005												
126381		iron metabolism	METABOLIC	MET	HIV Infections	16	16q22.1	HP	70646008	70652458		Pugliese, A.  et al. 2002	12018475				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Infection. 2002 Apr;30(2):86-9	Serum citrate levels, haptoglobin haplotypes and transferrin receptor (CD71) in patients with HIV-1 infection.		140100	17525	2	2002	 Our results show that iron metabolism is altered in patients with HIV-1 infection. The alternative pathway (citrate system) is particularly affected, since when citrate levels are low, both aconitase activity and HIV-1 replication need iron.	Control:36 healthy seronegative individuals;Case:65 HIV-infected patients (symptomatic stage B1-B3)										
126382	N	Malaria infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Aucan, C.  et al. 2002	12174790				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Gambian	Gambia	CDC GDPinfo	3240	Hs.134406			Transactions of the Royal Society of Tropical Medicine and Hygiene. 2002 May-Jun;96(3):327-8	Haptoglobin genotypes are not associated with resistance to severe malaria in The Gambia.		140100	17526	2	2002	No significant association was found between severe malaria and either haptoglobin genotypes or phenotypes. The advantages of using a deoxyribonucleic acid-based haptoglobin typing method are discussed.	Cohort 1183 individuals from the Gambia Gambia 										
126383	N	retinopathy, diabetic; nephropathy in other diseases; neuropathy	UNKNOWN	UNK	Diabetic Neuropathies|Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy	16	16q22.1	HP	70646008	70652458		Koda, Y.  et al. 2002	12187922				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Japanese	Japan	CDC GDPinfo	3240	Hs.134406			Diabetologia. 2002 Jul;45(7):1039-40	Haptoglobin genotype and diabetic microangiopathies in Japanese diabetic patients		140100	17527	2	2002	In conclusion, our results suggest that the common haptoglobin phenotype is not directly associated with an increased risk for the development of diabetic retinopathy. Our results also raise a concern about the direct application of a result of an association study on a particular population to other populations.	Cohort 133 subjects with type 2 diabetes 										
126377		lipoprotein, LDL; cholesterol, LDL	METABOLIC	MET		16	16q22.1	HP	70646008	70652458		Brouwers, A.  et al. 2004	15306193				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Atherosclerosis. 2004 Sep;176(1):189-95	Oxidized low-density lipoprotein, iron stores, and haptoglobin polymorphism.		140100	11338	2	2004	 Serum ferritin concentration and Hp polymorphism are independently associated with circulating oxLDL levels in males.	Cohort 381 healthy Caucasians (176 males, 205 females, age 45 +/- 6 years) 										
126378	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	16	16q22.1	HP	70646008	70652458		Saccucci, P.  et al. 2004	15490286				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Neurogenetics. 2004 Dec;5(4):245-8	Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism.		140100	11339	2	2004	These observations suggest that subjects carrying the Hp*1/*1 genotype, that has the lowest molecular size and diffuses more readily in the interstitial cerebral fluid, are more protected against idiopathic generalized epilepsy than those with other haptoglobin genotypes.	Case epileptic children;Control:controls										
126379		myocardial infarct; heart failure	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus	16	16q22.1	HP	70646008	70652458		Suleiman, M.  et al. 2005	16123372				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Diabetes. 2005 Sep;54(9):2802-6	Haptoglobin polymorphism predicts 30-day mortality and heart failure in patients with diabetes and acute myocardial infarction.		140100	11340	2	2005			diabetes									
126373	Y	cholesterol, LDL; cholesterol, total; C-reactive protein; apoA2; apoB	IMMUNE	IMM		16	16q22.1	HP	70646008	70652458		Wuyts, B.  et al. 2002	12113290				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Clinical chemistry and laboratory medicine. 2002 May;40(5):469-74	Novel haptoglobin insertion/deletion polymorphism is associated with the lipid profile and C-reactive protein (CRP) concentration.		140100	11334	2	2002	The association of the Hp I/D polymorphism with various lipid parameters might add a further component to the complex and multifaceted lipid metabolism.	Cohort 311 Belgian subjects Belgium 										
126374	Y	sleep apnea	CARDIOVASCULAR	CARD	Sleep Apnea, Obstructive|Cardiovascular Diseases|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Lavie, L.  et al. 2003	12938813				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Sleep. 2003 Aug;26(5):592-5	Haptoglobin polymorphism is a risk factor for cardiovascular disease in patients with obstructive sleep apnea syndrome.		140100	11335	2	2003	 These results suggest that haptoglobin phenotype is an important risk factor in determining susceptibility to cardiovascular disease in obstructive sleep apnea syndrome, which may be mediated by the decreased antioxidant and antiinflammatory actions of the haptoglobin 2 allelic protein product.	Case:465 patients with obstructive sleep apnea syndrome;Control:757 individuals without obstructive sleep apnea										
126376		ceruloplasmin	UNKNOWN	UNK		16	16q22.1	HP	70646008	70652458		Janaydeh, M.  et al. 2004	15103512				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Clinical and experimental medicine. 2004 Apr;3(4):219-23	The relationship between haptoglobin polymorphism and serum ceruloplasmin ferroxidase activity		140100	11337	2	2004	These results suggest that ceruloplasmin ferroxidase activity is both haptoglobin type and concentration dependent.	Cohort a sample population of unrelated black Jordanians Jordan 										
126370	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	16	16q22.1	HP	70646008	70652458		De Bacquer, D.  et al. 2001	11427216				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Atherosclerosis. 2001 Jul;157(1):161-6	Haptoglobin polymorphism as a risk factor for coronary heart disease mortality.		140100	11331	2	2001	 in contrast to the findings from cross-sectionally based studies, the results from this longitudinal study show that Hp 1-1 individuals are at elevated risk for CHD mortality.	Case:107 deaths from CHD, occurring within a 10-year follow-up period, from nested case-control study;Control:321 matched controls for age and gender										
126371		platelet thrombogenicity	HEMATOLOGICAL	HEM	Coronary Thrombosis	16	16q22.1	HP	70646008	70652458		Theodoropoulos, I.  et al. 2001	11529861				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			British journal of haematology. 2001 Aug;114(2):387-93	The effect of human platelet alloantigen polymorphisms on the in vitro responsiveness to adrenaline and collagen.		140100	11332	2	2001	These results support the clinical observation that polymorphism HPA-1b may predispose to increased platelet thrombogenicity and suggest that the presence of polymorphism HPA-5b might render the platelet less reactive to collagen.	Cohort 30 healthy volunteers 	aspirin									
126372	Y	hepatitis C virus infection	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Van Vlierberghe, H.  et al. 2001	11564959	Cys282Tyr			Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			European journal of gastroenterology & hepatology. 2001 Sep;13(9):1077-81	Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.		140100	11333	2	2001	 In patients with chronic hepatitis C infection, both the Hp 1-1 and the Cys282Tyr allele occur more frequently than in a control population. Remarkably, these genes seem to determine each other's occurrence, such that the overrepresentation of the Hp 1-1 phenotype is seen only in Cys282Tyr-negative subjects, while the overrepresentation of the Cys282Tyr allele is observed in Hp 1-1-negative subjects. Differences in immunomodulating and in oxidative stress-inducing capacities between the two genes may explain this finding.	Control not specified in abstract;Case:142 patients chronically infected with the hepatitis C:virus	hepatitis C									
126366	N	Severe Malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458	n	Aucan et al. Trans R Soc Trop Med Hyg. 2002	12174790			coding sequence	Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Gambia	Gambia	Christophe Aucan	3240	Hs.134406	Cerebral Malaria, Severe Malarial Anaemia, Mild Malaria		Transactions of the Royal Society of Tropical Medicine and Hygiene. 2002 May-Jun;96(3):327-8	Haptoglobin genotypes are not associated with resistance to severe malaria in The Gambia		140100	3192	1	2002	No significant association was found between severe malaria and either haptoglobin genotypes or phenotypes. The advantages of using a deoxyribonucleic acid-based haptoglobin typing method are discussed.	Cohort 1183 individuals from the Gambia Gambia										
126367		elite athletes	NORMALVARIATION	NV		16	16q22.1	HP	70646008	70652458		Kang BY 2003	12766331				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Korean		KGB	3240	Hs.134406			Medical principles and practice. 2003 Jul-Sep;12(3):151-5	The protein polymorphism of haptoglobin in Korean elite athletes.		140100	3193	1	2003	 Hp polymorphism exists in elite Korean male athletes and Hp phenotype may be a useful marker for endurance performance in these male athletes.											
126368	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Sleep Apnea, Obstructive|Cardiovascular Diseases|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Lavie L 2003	12938813				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			KGB	3240	Hs.134406	obstructive sleep apnea syndrome		Sleep. 2003 Aug;26(5):592-5	Haptoglobin polymorphism is a risk factor for cardiovascular disease in patients with obstructive sleep apnea syndrome.		140100	3194	1	2003	 These results suggest that haptoglobin phenotype is an important risk factor in determining susceptibility to cardiovascular disease in obstructive sleep apnea syndrome, which may be mediated by the decreased antioxidant and antiinflammatory actions of the haptoglobin 2 allelic protein product.	Case:465 patients with obstructive sleep apnea syndrome;Control:757 individuals without obstructive sleep apnea										
126363		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute	2	2q31.1	HOXD4	176724358	176726195		van Scherpenzeel Thim, V.  et al. 2005	15776434				Homeo box D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014621.2			CDC GDPinfo	3233	Hs.591609			Human mutation. 2005 Apr;25(4):384-95	Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies:identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function.		142981	17523	2	2005	Functional analysis of the murine Hoxd4 homolog revealed that mutant Hoxd4 protein had lower transcriptional activity than wild-type protein in vitro. The p.Glu81Val mutation of HOXD4 thus results in a partial loss-of-function, which might be involved in childhood ALL.	Control hearly controls;Case:86 children diagnosed with acute lymphoid malignancy										
126364	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease	16	16q22.1	Hp	70646008	70652458		De Bacquer D 2001	11427216				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055872			TJB	3240	Hs.513711			Atherosclerosis. 2001 Jul;157(1):161-6	Haptoglobin polymorphism as a risk factor for coronary heart disease mortality.		140100	3190	1	2001	 in contrast to the findings from cross-sectionally based studies, the results from this longitudinal study show that Hp 1-1 individuals are at elevated risk for CHD mortality.	Case:107 deaths from CHD, occurring within a 10-year follow-up period, from nested case-control study;Control:321 matched controls for age and gender										
126365	Y	decreases transcriptional activity and responsiveness to interleukin-6	OTHER	OTH	Carcinoma, Hepatocellular|Liver Neoplasms	16	16q22.1	HP	70646008	70652458		Grant DJ et al. 1993	8387722			promoter	Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			KGB	3240	Hs.134406			American journal of human genetics. 1993 May;52(5):974-80	A base substitution in the promoter associated with the human haptoglobin 2-1 modified phenotype decreases transcriptional activity and responsiveness to interleukin-6 in human hepatoma cells.		140100	3191	1	1993												
126358	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Asperger Syndrome|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150		Conciatori, M.  et al. 2004	14960295	A218G			Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4		Americas|Italy	CDC GDPinfo	3198	Hs.67397			Biological psychiatry. 2004 Feb;55(4):413-9	Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism		142955	11329	2	2004	 The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.	Case:127 autisitic patients;Control:174 ethnically matched controls										
126359	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Child Development Disorders, Pervasive|Asperger Syndrome|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150		Devlin, B.  et al. 2002	12210285				Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4			CDC GDPinfo	3198	Hs.67397			American journal of medical genetics. 2002 Aug;114(6):667-72	No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.		142955	17521	2	2002	Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism.	Cohort 68 individuals diagnosed with Autism Spectrum Disorders 										
126360		cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	7	7p15-p14	HOXA10	27176734	27186368		Bertini, V.  et al. 2004	14960020				Homeo box A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018951.3			CDC GDPinfo	3206	Hs.592166			Journal of pediatric endocrinology & metabolism. 2004 Jan;17(1):41-5	Homeobox HOXA10 gene analysis in cryptorchidism.		142957	17522	2	2004	 These data on HOXA10 analysis indicate that alterations of this gene may be more rare in males with cryptorchidism than previously suggested. This finding agrees with the rare occurrence of INSL3 gene mutations in human cryptorchidism, but needs to be confirmed in a larger series of selected patients.	Case:18 patients with cryptorchidism (age 7-44 years; unilateral n = 13; no familial cases);Control:28 healthy controls (age 9-39 years)										
126355	N	Autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150	n	Li J 2002	11840501				Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4			KGB	3198	Hs.67397			American journal of medical genetics. 2002 Jan;114(1):24-30			142955	3187	1	2002												
126356	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Asperger Syndrome|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150		Conciatori M 2004	14960295				Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4		Americas|Italy	KGB	3198	Hs.67397			Biological psychiatry. 2004 Feb;55(4):413-9	Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism.		142955	3188	1	2004	 The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference.	Case:127 autisitic patients;Control:174 ethnically matched controls										
126357	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Asperger Syndrome|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150		Collins, J. S.  et al. 2003	12908836	A218G			Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4		South Carolina	CDC GDPinfo	3198	Hs.67397			Journal of autism and developmental disorders. 2003 Jun;33(3):343-8	The HOXA1 A218G polymorphism and autism: lack ofassociation in white and black patients from the South Carolina Autism Project.		142955	11328	2	2003	More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism.	Case autistic patients from the South Carolina Autism:Project;Control:controls										
126351	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q14.2	HOMER1	78705541	78845456		Norton, N.  et al. 2003	12815733				Homer homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004272.3			CDC GDPinfo	9456	Hs.591761			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):18-21	Mutation screening of the Homer gene family and association analysis in schizophrenia		604798	17520	2	2003	Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes.	Case:368:schizophrenics;Control:368:controls;Control:671:controls;Case:680 cases of schizophrenia										
126353	N	schizophrenia	PSYCH	PSY	Schizophrenia	15	15q24.3	HOMER2	81314789	81412477		Norton, N.  et al. 2003	12815733				Homer homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004839.2			CDC GDPinfo	9455	Hs.578443			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):18-21	Mutation screening of the Homer gene family and association analysis in schizophrenia		604799	22240	2	2003	Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes.	Case:368:schizophrenics;Control:368:controls;Control:671:controls;Case:680 cases of schizophrenia										
126354	N	schizophrenia	PSYCH	PSY	Schizophrenia	19	19p13.11	HOMER3	18878768	18912983		Norton, N.  et al. 2003	12815733				Homer homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004838.2			CDC GDPinfo	9454	Hs.410683			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):18-21	Mutation screening of the Homer gene family and association analysis in schizophrenia		604800	24871	2	2003	Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes.	Case:368:schizophrenics;Control:368:controls;Control:671:controls;Case:680 cases of schizophrenia										
126347		erythrocyte histamine N-methyltransferase activity	HEMATOLOGICAL	HEM		2	2q22.1	HNMT	138438059	138490404		Wang, L.  et al. 2002	12167489				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			CDC GDPinfo	3176	Hs.42151			Biochemical pharmacology. 2002 Aug;64(4):699-710	Human histamine N-methyltransferase pharmacogenetics: gene resequencing, promotercharacterization, and functional studies of a common 5'-flanking region single nucleotide polymorphism (SNP).		605238	17517	2	2002	These results represent an additional step in the definition of molecular genetic mechanisms involved in the regulation of this important autacoid-metabolizing enzyme in humans.	Cohort 90 ethnically anonymous DNA samples from Coriell Cell Repository 										
126348		diabetes, type 2	METABOLIC	MET		2	2q22.1	HNMT	138438059	138490404		Chen, G. L.  et al. 2002	12417108				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Chinese		CDC GDPinfo	3176	Hs.42151			Clinica chimica acta; international journal of clinical chemistry. 2002 Dec;326(2-Jan):163-7	Analysis of the C314T and A595G mutations in histamine N-methyltransferase gene in a Chinese population.		605238	17518	2	2002	 The C314T mutation represents a common functional genetic polymorphism in the Chinese Han population with a variant T314 allele frequency similar to Japanese but lower than American Caucasians, whereas the A595G mutation does not appear to exist in this population.	Cohort 352 unrelated Chinese Han subjects 										
126349		histamine N-methyltransferase activity	NORMALVARIATION	NV		2	2q22.1	HNMT	138438059	138490404		Chen, G. L.  et al. 2003	12867290				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Chinese		CDC GDPinfo	3176	Hs.42151			Clinica chimica acta; international journal of clinical chemistry. 2003 Aug;334(2-Jan):179-83	Genotype-phenotype correlation for histamine N-methyltransferase in a Chinese Han population.		605238	17519	2	2003	 The C314T polymorphism was functionally important and contributes in part to phenotypic variance of HNMT activity in Chinese Han population. Additional unknown genetic or epigenetic factors should also play important roles in the regulation of HNMT activity.	Cohort 247 unrelated Chinese Han subjects 										
126343	N	asthma; bronchial hyperresponsiveness	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	2	2q22.1	HNMT	138438059	138490404		Deindl, P.  et al. 2005	15693910				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2		Germany	CDC GDPinfo	3176	Hs.42151			Pediatric allergy and immunology. 2005 Feb;16(1):40-2	No association of histamine- N-methyltransferase polymorphism with asthma or bronchial hyperresponsiveness in two German pediatric populations.		605238	11324	2	2005	We conclude that  this SNP might not play a major role in the pathogenesis of asthma or BHR in German children.	Control:515/211 Non-asthmatic (n = 515) and non-atopic (n = 211) children from the MAS-cohort;Case:85/176 asthmatic children from the German Multicenter Atopy Study Group 9N=85) and asthmatic children from Freiburg (n=176):Germany										
126344	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	2	2q22.1	HNMT	138438059	138490404		Oroszi, G.  et al. 2005	15770103	Thr105Ile			Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2		United States|Finland	CDC GDPinfo	3176	Hs.42151			Alcoholism, clinical and experimental research. 2005 Mar;29(3):303-9	Thr105Ile, a functional polymorphism of histamine N-methyltransferase, is associated with alcoholism in two independent populations.		605238	11325	2	2005	 Decreased levels of brain histamine consequent to the Thr105 allele may result in higher levels of anxiety and, as a consequence, vulnerability to alcoholism.	Case:218/186 Finnish Caucasian (n = 218) and Plains American:Indian (n = 186) alcoholics;Control:313/140 ethnically matched, psychiatrically interviewed,										
126345	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q22.1	HNMT	138438059	138490404		Sharma, S.  et al. 2005	16205835				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Indian		CDC GDPinfo	3176	Hs.42151			Journal of human genetics. 2005 ;50(12):611-7	Lack of association of histamine-N-methyltransferase (HNMT) polymorphisms with asthma in the Indian population.		605238	11326	2	2005												
126339	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q22.1	HNMT	138438059	138490404	P<0.01	Yan L 2000	10803682	C314T (Thr105Ile)			Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			KCB	3176	Hs.42151			Pharmacogenetics. 2000 Apr;10(3):261-6			605238	3185	1	2000												
126340		histamine N-methyltransferase	NORMALVARIATION	NV		2	2q22.1	HNMT	138438059	138490404		Chen GL 2003	12867290				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	chinese		KGB	3176	Hs.42151			Clinica chimica acta; international journal of clinical chemistry. 2003 Aug;334(2-Jan):179-83	Genotype-phenotype correlation for histamine N-methyltransferase in a Chinese Han population.		605238	3186	1	2003	 The C314T polymorphism was functionally important and contributes in part to phenotypic variance of HNMT activity in Chinese Han population. Additional unknown genetic or epigenetic factors should also play important roles in the regulation of HNMT activity.	Cohort 247 unrelated Chinese Han subjects										
126341		erythrocyte histamine N-methyltransferase activity	HEMATOLOGICAL	HEM		2	2q22.1	HNMT	138438059	138490404		Chen, G. L.  et al. 2003	12835614				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Chinese		CDC GDPinfo	3176	Hs.42151			Pharmacogenetics. 2003 Jul;13(7):389-97	Histamine N-methyltransferase gene polymorphisms in Chinese and their relationship with enzyme activity in erythrocytes.		605238	11322	2	2003	The common SNPs in 5'-FR (-1637T>C and -463T>C) and 3'-UTR (939A>G and 1097A>T) might conditionally regulate the activity of HNMT, or might be genetically linked to unknown mutation(s) underlying the HNMT phenotypic variance.	Cohort 192 Chinese unrelated subjects 										
126342	N	gastric ulcer	OTHER	OTH	Stomach Ulcer|Genetic Predisposition to Disease	2	2q22.1	HNMT	138438059	138490404		Chen, G. L.  et al. 2004	15551002				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			CDC GDPinfo	3176	Hs.42151			Inflammation research. 2004 Sep;53(9):484-8	Single nucleotide polymorphisms and haplotypes of histamine N-methyltransferase in patients with gastric ulcer.		605238	11323	2	2004	 This study provided no evidence for the involvement of HNMT polymorphisms in the susceptibility to GU.	Case:118 gastric ulcer patients;Control:154 ethnically matched controls										
126335		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Sandford, A. J.  et al. 2002	12149538				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Thorax. 2002 Aug;57(8):736-41	Chronic obstructive pulmonary disease. 1:Susceptibility factors for COPD the genotype-environment interaction.		141250	27480	2	2002	Review article		smoking (tobacco)									
126336	Y	emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Budhi, A.  et al. 2003	12579334				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese	Japan	CDC GDPinfo	3162	Hs.517581			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		141250	27743	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
126337	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	2	2q22.1	HNMT	138438059	138490404	n	Sasaki Y 2000	10752634	C314T (Thr105Ile)			Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Japanese		KCB	3176	Hs.42151			Immunogenetics. 2000 Mar;51(3):238-40			605238	3183	1	2000												
126338	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q22.1	HNMT	138438059	138490404	P<0.01	Yan L 2000	10803682	C314T (Thr105Ile)			Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	U.S. Caucasian		KCB	3176	Hs.42151			Pharmacogenetics. 2000 Apr;10(3):261-6			605238	3184	1	2000												
126332		cirrhosis	OTHER	OTH	Liver Cirrhosis|Hemochromatosis|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Osterreicher, C. H.  et al. 2005	15885363				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Journal of hepatology. 2005 Jun;42(6):914-9	Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis.		141250	22237	2	2005	 MPO genotype GG is associated with cirrhosis in patients with hereditary hemochromatosis.	Cohort 158 C282Y homozygotes without cofactors for fibrosis 										
126333		chronic toxic encephalopathy	NEUROLOGICAL	NEUR	Brain Diseases|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Ahmadi, A.  et al. 2002	14992466				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Toxicology and industrial health. 2002 Jul;18(6):289-96	Interaction between smoking and glutathione S-transferase polymorphisms in solvent-induced chronic toxic encephalopathy.		141250	24870	2	2002	We suggest that the GSTM1 null genotype in smokers is a possible risk for solvent-induced CTE.	Control:32 non-chronic toxic encephalopathy patients;Case:56/27 chronic toxic encephalopathy (CTE, n = 56), incipient CTE (n = 27) patients	smoking (tobacco) solvents									
126329		C-reactive protein; fibrinogen; coronary artery bypass graft	IMMUNE	IMM	Inflammation	22	22q12	HMOX1	34107086	34120194		Li, P.  et al. 2005	16117883				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Chinese medical journal. 2005 Aug;118(15):1285-90	Inflammatory response to coronary artery bypass surgery: does the heme-oxygenase-1 genemicrosatellite polymorphism play a role?		141250	17505	2	2005	 There is a strong correlation between the measured acute phase reactants both at baseline and after the inflammatory response to CABG in patients with coronary disease. There was an association between the HO-1 microsatellite polymorphism and CRP and fibrinogen levels at baseline but there was no similar association following CABG. This may indicate that HO-1 is associated with chronic atherosclerotic inflammatory processes rather than acute.											
126330		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Hersh, C. P.  et al. 2005	15817713				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			American journal of respiratory cell and molecular biology. 2005 Jul;33(1):71-8	Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.		141250	22235	2	2005	Although some evidence for replication was found for SFTPB and HMOX1, none of the previously published COPD genetic associations was convincingly replicated across both study designs.	Case chronic obstructive pulmonary disease cases;Control:controls										
126331		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	22	22q12	HMOX1	34107086	34120194		Xiao, D.  et al. 2004	15161530				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Chinese		CDC GDPinfo	3162	Hs.517581			Chinese medical journal. 2004 May;117(5):661-7	Relationship between polymorphisms of genes encoding microsomal epoxide hydrolase and glutathione S-transferase P1 and chronic obstructive pulmonary disease		141250	22236	2	2004	 mEH exon 3 heterozygotes might be associated with susceptibility to COPD in China. The interaction might exist between mEH genotype and smoke. The gene polymorphism for GSTP1 might not be associated with susceptibility to COPD in the Chinese population.	Control:100 age- and sex-matched healthy controls;Case:100 chronic obstructive pulmonary disease patients	smoking (tobacco)									
126326	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Ono, K.  et al. 2003	12872043			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Journal of hypertension. 2003 Aug;21(8):1497-503	Association of a promoter variant of the haeme oxygenase-1 gene with hypertension in women.		141250	17501	2	2003	 The AA genotype of HMOX-1 is associated with an increased incidence of hypertension in women. Oestrogen attenuates vasoconstriction by increasing the expression of inducible nitric oxide synthase. As carbon monoxide, which is one of the products of HO-1, can attenuate nitric oxide-induced vasodilatation, a high expression of HO-1 may cause hypertension, especially in women.	Cohort 1,998 individuals representing the general Japanese population 	antihypertensive									
126327	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Schillinger, M.  et al. 2004	15028349				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1		Massachusetts|Austria	CDC GDPinfo	3162	Hs.517581			Journal of the American College of Cardiology. 2004 Mar;43(6):950-7	Heme oxygenase-1 genotype and restenosis after balloon angioplasty: a novel vascular protectivefactor		141250	17502	2	2004	 The HO-1 promoter genotype that controls the degree of HO-1 up-regulation in response to stress stimuli is associated with the postintervention inflammatory response and the restenosis risk after balloon angioplasty.	Cohort 381 consecutive patients who underwent femoropopliteal balloon angioplasty (n = 210) and comparison groups with femoropopliteal stenting (n = 68) and lower limb angiography (n = 103) 										
126328	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Ono, K.  et al. 2004	15064108			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese	Japan	CDC GDPinfo	3162	Hs.517581			Atherosclerosis. 2004 Apr;173(2):315-9	A promoter variant of the heme oxygenase-1 gene may reduce the incidence of ischemic heart disease in Japanese.		141250	17503	2	2004	The AA genotype of HMOX1 reduced the incidence of ischemic heart disease, possibly due to the high expression level of HMOX1.	Control:1,972 control subjects;Case:597 subjects with ischemic heart disease										
126322	Y	arteriovenous fistulas	CARDIOVASCULAR	CARD		22	22q12	HMOX1	34107086	34120194			16374439				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Kidney international. 2006 Jan;69(1):165-72	Length polymorphism in heme oxygenase-1 is associated with arteriovenous fistula patency in hemodialysis patients		141250	11314	2	2006												
126323		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Lymphatic Metastasis	22	22q12	HMOX1	34107086	34120194			16387424			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Cancer letters. 2005	Functional polymorphism in NFKB1 promoter is related to the risks of oral squamous cell carcinoma occurring on older male areca (betel) chewers		141250	11315	2	2005												
126325		fetal hemoglobin	UNKNOWN	UNK	Jaundice, Neonatal	22	22q12	HMOX1	34107086	34120194		Kanai, M.  et al. 2003	12736395				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese	Japan|Germany	CDC GDPinfo	3162	Hs.517581			Pediatric research. 2003 Aug;54(2):165-71	Neonatal hyperbilirubinemia in Japanese neonates:analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in cord blood.		141250	17500	2	2003	We detected a significant difference in the allele frequencies of each number of (GT)n repeats between Japanese and German patients. However, we could not find a relation between those polymorphisms and neonatal hyperbilirubinemia. Further studies are required to elucidate genetic or environmental factors in neonatal hyperbilirubinemia in Japanese infants.	Cohort Japanese neonates 										
126318	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Gulesserian, T.  et al. 2005	16020495			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Clinical chemistry. 2005 Sep;51(9):1661-5	Clinical restenosis after coronary stent implantation is associated with the heme oxygenase-1 gene promoter polymorphism and the heme oxygenase-1 +99G/C variant.		141250	11310	2	2005	 The long allele of the HO-1 gene promoter (>29 repeats) polymorphism, which leads to low HO-1 inducibility, may represent an independent prognostic marker for restenosis after PCI and stent implantation. The effect of the >29 repeat allele is attenuated in smokers, who have chronic exogenous CO exposure.		smoking (tobacco)									
126319		heart transplant complications	OTHER	OTH	Coronary Artery Disease	22	22q12	HMOX1	34107086	34120194		Ullrich, R.  et al. 2005	16210136			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			The Journal of heart and lung transplantation. 2005 Oct;24(10):1600-5	Microsatellite polymorphism in the heme oxygenase-1 gene promoter and cardiac allograft vasculopathy.		141250	11311	2	2005	 In contrast to recent findings in renal allografts and vascular injury, the HO-1 gene promoter polymorphism does not show an association with the development of CAV in heart transplants.											
126320	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Li, P.  et al. 2005	16232329				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Chinese medical journal. 2005 Sep;118(18):1525-32	The microsatellite polymorphism of heme oxygenase-1 is associated with baseline plasma IL-6 level but not with restenosis after coronary in-stenting.		141250	11312	2	2005	 Although no association was observed between the HO-1 promoter polymorphism and coronary in-stent restenosis following the stent procedure, the association with plasma IL-6 levels suggests that HO-1 S allele might protect from the atherosclerotic inflammatory process.											
126315		cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	22	22q12	HMOX1	34107086	34120194		Funk, M.  et al. 2004	15140586			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Thrombosis research. 2004 ;113(4-Mar):217-23	The effect of a promoter polymorphism in the heme oxygenase-1 gene on the risk of ischaemic cerebrovascular events: the influence of othervascular risk factors.		141250	11306	2	2004	Short (<25 GT) repeats in the HO-1 gene promoter confer a reduced risk for cerebrovascular events in individuals with normal plasma lipid levels. This may explain controversial findings in different populations.	Control:398 healthy controls;Case:399 patients with ischemic cerebrovascular events										
126316	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Chang, K. W.  et al. 2004	15365571			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			British journal of cancer. 2004 Oct;91(8):1551-5	Polymorphism in heme oxygenase-1 (HO-1) promoter is related to the risk of oral squamous cell carcinoma occurring on male areca chewers.		141250	11307	2	2004	Our findings indicated that longer (GT)(n) repeat allele in HO-1 promoter is associated with the risks of areca-related OSCC, while the shorter (GT)(n) repeat allele may have protective effects for OSCC.	Case:147/71 oral squamous cell carcinoma (n=147) and oral submucous fibrosis (n=71);Control:83:controls										
126317	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Neoplasms, Squamous Cell|Lung Neoplasms|Pulmonary Emphysema|Disease Susceptibility	22	22q12	HMOX1	34107086	34120194		Kikuchi, A.  et al. 2005	15688187			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese		CDC GDPinfo	3162	Hs.517581			Human genetics. 2005 Apr;116(5):354-60	Association of susceptibility to the development of lung adenocarcinoma with the heme oxygenase-1 gene promoter polymorphism.		141250	11308	2	2005	These findings suggest that the large size of a (GT)(n) repeat in the HO-1 gene promoter may be associated with the development of lung adenocarcinoma in Japanese male smokers.	Case:151 Japanese lung adenocarcinoma patients Japanese patients with lung adenocarcinoma;Control:153 control subjects frequency-matched by age, gender, smoking history and proportion of chronic pulmonary:emphysema										
126312	Y	atherosclerosis, coronary	OTHER	OTH	Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Chen, Y. H.  et al. 2004	14683741				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			European heart journal. 2004 Jan;25(1):39-47	Heme oxygenase-1 gene promotor microsatellite polymorphism is associated with angiographic restenosis after coronary stenting		141250	11302	2	2004	 The length polymorphism of GT repeat in HO-1 gene promoter is an independent risk factor for angiographic restenosis as well as adverse cardiac events after coronary stenting. These findings suggest the genetic contribution to stent restenosis and support the notion that the long dinucleotide GT repeat in promotor region may interfere with HO-1 gene transcription, leading to decreased vascular protection upon injury.	Cohort 323 consecutive patients with successful coronary stenting 										
126313	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	22	22q12	HMOX1	34107086	34120194		Endler, G.  et al. 2004	14691581			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Caucasian		CDC GDPinfo	3162	Hs.517581			Thrombosis and haemostasis. 2004 Jan;91(1):155-61	A microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with increased bilirubin and HDL levels but not with coronary artery disease.		141250	11303	2	2004	Although potentially beneficial effects of the short HO-1 allele on lipid profile and serum bilirubin were observed, in contrast to Orientals, the HO-1 genotype was not associated with coronary artery disease in Caucasians.	Control:211 Caucasian controls without coronary artery disease;Case:258/180 Caucasian individuals with myocardial infarction (n=258) and stable coronary artery disease (n=180)										
126314	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	22	22q12	HMOX1	34107086	34120194		Denschlag, D.  et al. 2004	14981149				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Caucasian		CDC GDPinfo	3162	Hs.517581			Molecular human reproduction. 2004 Mar;10(3):211-4	The size of a microsatellite polymorphism of the haem oxygenase 1 gene is associated with idiopathic recurrent miscarriage.		141250	11304	2	2004	In summary, this is the first report on a HO-1 (GT)(n) microsatellite polymorphism among women with IRM, demonstrating that the investigated polymorphism is associated with IRM in a relatively large Caucasian population.	Control:129 healthy, post-menopausal controls;Case:162 women with idiopathic recurrent miscarriage										
126309	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Kaneda, H.  et al. 2002	12377749			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese	Japan	CDC GDPinfo	3162	Hs.517581			Arteriosclerosis, thrombosis, and vascular biology. 2002 Oct;22(10):1680-5	Heme oxygenase-1 gene promoter polymorphism is associated with coronary artery disease in Japanese patients with coronary risk factors		141250	11299	2	2002	 Length polymorphism in the HO-1 gene promoter is related to CAD susceptibility in Japanese people who also have coronary risk factors such as hypercholesterolemia, diabetes, and smoking. HO-1 may play an antiatherogenic role in Japanese patients with these coronary risk factors.	Cohort 577 patients who underwent coronary angiography 	smoking (tobacco)									
126310		longevity	AGING	AGE		22	22q12	HMOX1	34107086	34120194		Yamaya, M.  et al. 2003	12566526			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese		CDC GDPinfo	3162	Hs.517581			Journal of medical genetics. 2003 Feb;40(2):146-8	Relationship between microsatellite polymorphism in the haem oxygenase-1 gene promoter and longevity of the normal Japanese population.		141250	11300	2	2003	the present study suggests that a large (GT) repeat in the HO-1 gene promoter may be a genetic factor that prevents the attainment of old age in male Japanese subjects.	Cohort 512 healthy Japanese subjects 										
126311	N	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Kanai, M.  et al. 2003	14521259				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1		Japan	CDC GDPinfo	3162	Hs.517581			The Tohoku journal of experimental medicine. 2003 Jul;200(3):155-9	Polymorphisms of heme oxygenase-1 and bilirubin UDP-glucuronosyltransferase genes are not associated with Kawasaki disease susceptibility		141250	11301	2	2003	These polymorphisms are not associated with KD susceptibility.	Case Kawasaki disease patients;Control:controls										
126306	Y	restenosis	OTHER	OTH	Arterial Occlusive Diseases|Constriction, Pathologic|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Exner, M.  et al. 2001	11718398			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Journal of endovascular therapy. 2001 Oct;8(5):433-40	Heme oxygenase-1 gene promoter microsatellite polymorphism is associated with restenosis after percutaneous transluminal angioplasty		141250	11296	2	2001	 Genetic risk factors for restenosis after percutaneous transluminal angioplasty have not been investigated. In this patient population, short repeat alleles of the heme oxygenase-1 gene promoter polymorphism were associated with reduced postdilation restenosis at 6 months. Upregulation of HO-1 may be an important protective factor after balloon angioplasty by inhibition of vascular smooth muscle cell proliferation.	Cohort 96 consecutive patients (64 men; median age 69 years, interquartile range 60-75) who underwent successful balloon dilation in the femoropopliteal segment 										
126307	Y	coronary artery disease	METABOLIC	MET	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Chen, Y. H.  et al. 2002	12136229			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Human genetics. 2002 Jul;111(1):8-Jan	Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients.		141250	11297	2	2002	These results imply that the length polymorphism in the HO-1 gene promoter modulate the transcription of the gene in vascular cells. Type 2 diabetics carrying longer (GT) (n) repeats might have higher oxidative stress and increased susceptibility to the development of CAD.	Control:322:controls;Case:474 patients with coronary artery disease										
126308	Y	aneurysm, abdominal aortic	CARDIOVASCULAR	CARD	Coronary Disease|Aortic Aneurysm, Abdominal|Arteriosclerosis|Peripheral Vascular Diseases|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Schillinger, M.  et al. 2002	12182912			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Thrombosis research. 2002 Apr;106(2):131-6	Heme oxygenase-1 gene promoter polymorphism is associated with abdominal aortic aneurysm		141250	11298	2	2002	 Patients with AAA were less frequently carriers of short (< 25 GT) repeats in the HO-1 gene promoter than patients with atherosclerosis or healthy subjects. This suggests that short alleles, and thus, facilitated upregulation of HO-1, may be a protective anti-inflammatory factor against the development of AAA.	Case:70 consecutive patients with atherosclerotic AAA;Control:70/70/61 patients with coronary (n=70) and with peripheral (n=70) artery disease, and unmatched healthy atherosclerosis-free controls (n=61)										
126303	Y	idiopathic recurrent miscarriage.	REPRODUCTION	REP	Abortion, Habitual	22	22q12	HMOX1	34107086	34120194		Denschlag D 2004	14981149				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			Molecular human reproduction. 2004 Mar;10(3):211-4	The size of a microsatellite polymorphism of the haem oxygenase 1 gene is associated with idiopathic recurrent miscarriage.		141250	3177	1	2004	In summary, this is the first report on a HO-1 (GT)(n) microsatellite polymorphism among women with IRM, demonstrating that the investigated polymorphism is associated with IRM in a relatively large Caucasian population.	Control:129 healthy, post-menopausal controls;Case:162 women with idiopathic recurrent miscarriage										
126304	Y	diabetes, type 2	METABOLIC	MET	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Chen YH 2002	12136229				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			Y Wang	3162	Hs.517581	Complications		Human genetics. 2002 Jul;111(1):8-Jan	Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients.		141250	3178	1	2002	These results imply that the length polymorphism in the HO-1 gene promoter modulate the transcription of the gene in vascular cells. Type 2 diabetics carrying longer (GT) (n) repeats might have higher oxidative stress and increased susceptibility to the development of CAD.	Control:322:controls;Case:474 patients with coronary artery disease										
126305		Restenosis	OTHER	OTH	Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Chen YH 2004	14683741				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			European heart journal. 2004 Jan;25(1):39-47	Heme oxygenase-1 gene promotor microsatellite polymorphism is associated with angiographic restenosis after coronary stenting.		141250	3179	1	2004	 The length polymorphism of GT repeat in HO-1 gene promoter is an independent risk factor for angiographic restenosis as well as adverse cardiac events after coronary stenting. These findings suggest the genetic contribution to stent restenosis and support the notion that the long dinucleotide GT repeat in promotor region may interfere with HO-1 gene transcription, leading to decreased vascular protection upon injury.	Cohort 323 consecutive patients with successful coronary stenting										
126299	Y	emphysema	OTHER	OTH	Pulmonary Emphysema|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Yamada N et al. 2000	10631150			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			American journal of human genetics. 2000 Jan;66(1):187-95	Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema.		141250	3173	1	2000												
126301		Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	22	22q12	HMOX1	34107086	34120194		Kimpara T et al. 1997	9225984			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			Human genetics. 1997 Jul;100(1):145-7	Microsatellite polymorphism in the human heme oxygenase-1 gene promoter and its application in association studies with Alzheimer and Parkinson disease.		141250	3175	1	1997												
126302	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Kaneda H et al. 2002	12377749			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Japanese	Japan	KGB	3162	Hs.517581			Arteriosclerosis, thrombosis, and vascular biology. 2002 Oct;22(10):1680-5	Heme oxygenase-1 gene promoter polymorphism is associated with coronary artery disease in Japanese patients with coronary risk factors.		141250	3176	1	2002	 Length polymorphism in the HO-1 gene promoter is related to CAD susceptibility in Japanese people who also have coronary risk factors such as hypercholesterolemia, diabetes, and smoking. HO-1 may play an antiatherogenic role in Japanese patients with these coronary risk factors.	Cohort 577 patients who underwent coronary angiography	smoking (tobacco)									
126296	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	5	5q13.3-q14	HMGCR	74668854	74693681		Tong, Y.  et al. 2004	15233402	8302A/C and (TTA)n			3-hydroxy-3-methylglutaryl-Coenzyme A reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000859.1	Chinese		CDC GDPinfo	3156	Hs.643495			Lipids. 2004 Mar;39(3):239-41	8302A/C and (TTA)n polymorphisms in the HMG-CoA reductase gene may be associated with some plasma lipid metabolic phenotypes in patients with coronary heart disease.		142910	11295	2	2004	This suggests that both polymorphisms in the HMGCR gene may be associated with lipid and lipoprotein abnormalities in CHD in the Chinese.	Control:161 age-matched controls;Case:169 Chinese patients with coronary heart disease										
126297		cholesterol	METABOLIC	MET	Hypercholesterolemia	5	5q13.3-q14	HMGCR	74668854	74693681		Chasman, D. I.  et al. 2004	15199031				3-hydroxy-3-methylglutaryl-Coenzyme A reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000859.1			CDC GDPinfo	3156	Hs.643495			JAMA. 2004 Jun;291(23):2821-7	Pharmacogenetic study of statin therapy and cholesterol reduction.		142910	17498	2	2004	 Individuals heterozygous for a genetic variant in the HMG-CoA reductase gene may experience significantly smaller reductions in cholesterol when treated with pravastatin.	Cohort 1,536 individuals treated with pravastatin, 40 mg/d 	pravastatin									
126298	Y	restenosis after percutaneous transluminal angioplasty	OTHER	OTH	Arterial Occlusive Diseases|Constriction, Pathologic|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Exner M et al. 2001	11718398			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			Journal of endovascular therapy. 2001 Oct;8(5):433-40	Heme oxygenase-1 gene promoter microsatellite polymorphism is associated with restenosis after percutaneous transluminal angioplasty.		141250	3172	1	2001	 Genetic risk factors for restenosis after percutaneous transluminal angioplasty have not been investigated. In this patient population, short repeat alleles of the heme oxygenase-1 gene promoter polymorphism were associated with reduced postdilation restenosis at 6 months. Upregulation of HO-1 may be an important protective factor after balloon angioplasty by inhibition of vascular smooth muscle cell proliferation.	Cohort 96 consecutive patients (64 men; median age 69 years, interquartile range 60-75) who underwent successful balloon dilation in the femoropopliteal segment										
126293		cholesterol, HDL; cholesterol, LDL; lathosterol	METABOLIC	MET		1	1p36.1-p35	HMGCL	24000953	24037697		Plat, J.  et al. 2002	11952809				3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000191.2			CDC GDPinfo	3155	Hs.533444			European journal of clinical investigation. 2002 Apr;32(4):242-50	Relationship of genetic variation in genes encoding apolipoprotein A-IV, scavenger receptor BI, HMG-CoA reductase, CETP and apolipoprotein E with cholesterol metabolism and the response to plant stanol ester consumption		246450	26222	2	2002	 These findings suggest that all subjects who want to lower their cholesterol concentration, will benefit from plant stanol ester consumption, irrespective of their apoA-IV, SR-BI, HMG-CoA reductase, CETP, or apoE genotype.	Cohort 112 nonhypercholesterolemic subjects, of whom 70 consumed 3 small middle dot8-4 small middle dot0 g plant stanol esters a day for 8 weeks 	plant stanol esters									
126294		triglycerides	METABOLIC	MET		1	1p36.1-p35	HMGCL	24000953	24037697		Ribalta, J.  et al. 2005	15764642				3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000191.2			CDC GDPinfo	3155	Hs.533444			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		246450	26994	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
126295	Y	lipids; atherosclerosis	METABOLIC	MET		5	5q13.3-q14	HMGCR	74668854	74693681		Tong, Y.  et al. 2003	12778445				3-hydroxy-3-methylglutaryl-Coenzyme A reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000859.1			CDC GDPinfo	3156	Hs.643495			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):207-10	[Association of HMG-CoA reductase gene polymorphism with levels of lipids]		142910	11294	2	2003	 No direct association was found between the ScrF1 polymorphism and CHD, but there is a significant correlation between the AA genotype of the HMG-CoA reductase gene and the levels of plasma VLDL and TG in CHD group.	Case Chinese Han conronary heart disease patients;Control:controls										
126290	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23.3	HMBS	118460796	118469469	n	Nimgaonkar VL et al. 1992	1358185				Hydroxymethylbilane synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000190.3			KGB, VLN	3145	Hs.82609			Schizophrenia research. 1992 Oct;8(1):51-8	Schizophrenia and porphobilinogen deaminase gene polymorphisms: an association study.		176000	3171	1	1992												
126291		porphyria, acute intermittent (AIP)	HEMATOLOGICAL	HEM	Porphyria, Acute Intermittent	11	11q23.3	HMBS	118460796	118469469		Andersson, C.  et al. 2000	11202057				Hydroxymethylbilane synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000190.3			CDC GDPinfo	3145	Hs.82609			Scandinavian journal of clinical and laboratory investigation. 2000 Nov;60(7):643-8	The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.		176000	17495	2	2000	A higher prevalence of manifest AIP was found in patients with mutations W198X and R173W when separately compared with mutation R167W, indicating higher clinical penetrance. Signs of increased seriousness of the disease were also found in patients with the W198X and R173W mutations in relation to the number and duration of attacks, impaired renal function and chronic disability. One explanation could be lower PBGD enzyme activity resulting from the W198X and R173W mutations than from the R167W mutation, though other factors might also be the cause.	Cohort 468 patients with DNA-verified acute intermittent porphyria northern Sweden 										
126292		porphyria	HEMATOLOGICAL	HEM	Porphyria, Acute Intermittent|Abdominal Pain	11	11q23.3	HMBS	118460796	118469469		von und zu Fraunberg, M.  et al. 2005	15643298				Hydroxymethylbilane synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000190.3	Finnish, Russian		CDC GDPinfo	3145	Hs.82609			Medicine. 2005 Jan;84(1):35-47	Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria		176000	17496	2	2005	Mutations R167W and R225G resulted in milder biochemical abnormalities and clinical symptoms indicating a milder form of AIP in these patients. In all AIP patients, normal PBG excretion predicted freedom from acute attacks. The risk of symptoms was highest for female patients with markedly increased PBG excretion (>100 micromol/L). Proper counseling contributed to the prevention of subsequent attacks in 60% of previously symptomatic and in 95% of previously symptom-free patients.	Cohort 143 Finnish and Russian patients with acute intermittent porphyria 										
126287	Y	preeclampsia	REPRODUCTION	REP	Pregnancy Complications, Infectious|Cytomegalovirus Infections|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		Carreiras, M.  et al. 2002	12443029				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			American journal of reproductive immunology (New York, NY :  1989). 2002 Sep;48(3):176-83	Preeclampsia: a multifactorial disease resultingfrom the interaction of the feto-maternal HLA genotype and HCMV infection.		142871	26993	2	2002	 The results suggest that the presence of alleles HLA-G*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of preeclampsia.	Case mothers with preeclampsia and their neonates;Control mothers with a normal history of pregnancies and their neonates	human cytomegalo virus									
126288	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23.3	HMBS	118460796	118469469		Sanders AR et al. 1993	8094629				Hydroxymethylbilane synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000190.3			KGB	3145	Hs.82609			Schizophrenia research. 1993 Jan;8(3):211-21	Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia.		176000	3169	1	1993												
126289	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23.3	HMBS	118460796	118469469	n	Owen MJ et al. 1992	1358782				Hydroxymethylbilane synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000190.3			KGB	3145	Hs.82609			Human genetics. 1992 Sep-Oct;90(2-Jan):131-2	No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia.		176000	3170	1	1992												
126283	Y	birth weight; placental weight	REPRODUCTION	REP	Pre-Eclampsia|Birth Weight	6	6p21.3	HLA-G	29902722	30085613		Hviid, T. V.   2004	15219378				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Human immunology. 2004 Jun;65(6):586-93	HLA-G genotype is associated with fetoplacental growth.		142871	17492	2	2004	An HLA-G genotype homozygous for the presence of the 14 bp sequence polymorphism was significantly associated with increased birth weight in relation to gestational age (one-way analysis of variance; 2	Cohort 47 pregnancies complicated with preeclampsia Cohort 87 pregnancies with no preeclampsia 										
126284		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Beydoun, H.  et al. 2005	15713211				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Tissue antigens. 2005 Feb;65(2):123-35	Association of human leucocyte antigen sharing with recurrent spontaneous abortions.		142871	17493	2	2005	We sought to identify consistent findings among studies examining similar questions. Evidence remains divided concerning the role of HLA allele couple sharing. Of major concern is the focus of many studies on couple sharing as a proxy measure of maternal-foetal sharing. Therefore, adequately powered studies are needed, which employ standard case definitions and reproducible methodologies to directly assess the role of maternal-foetal HLA sharing on the risk of RSA.											
126285		HIV; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-G	29902722	30085613		Matte, C.  et al. 2000	11137220				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3	African		CDC GDPinfo	3135	Hs.512152			Human immunology. 2000 Nov;61(11):1150-6	HLA-G and HLA-E polymorphisms in an indigenous African population. The ZVITAMBO Study Group.		142871	22233	2	2000	These data indicate that this African population contains low levels of allelic polymorphism similar to ethnic groups from industrialized countries. This is the first report describing HLA-G and HLA-E polymorphisms in an indigenous African population.	Cohort 108 unrelated women recruited from maternity clinics and hospitals Harare, Zimbabwe 										
126280	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Aldrich, C. L.  et al. 2001	11719594				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Molecular human reproduction. 2001 Dec;7(12):1167-72	HLA-G genotypes and pregnancy outcome in couples with unexplained recurrent miscarriage		142871	17488	2	2001	The significant genotype-specific risk in this population suggests that allelic variation in the alpha-2 domain of the HLA-G1 isoforms contributes to recurrent miscarriage.	Cohort 113 couples with unexplained recurrent miscarriage 										
126281	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous	6	6p21.3	HLA-G	29902722	30085613		Ober, C.  et al. 2003	12721954			promoter	HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			American journal of human genetics. 2003 Jun;72(6):1425-35	Variation in the HLA-G promoter region influences miscarriage rates.		142871	17490	2	2003	Overall, this study identified extraordinary levels of variation in the 5'-upstream regulatory region of HLA-G and provides evidence for an association between a promoter-region SNP and fetal loss rates, further attesting to the novel features and critical role of this gene in pregnancy.	Cohort women participating in a 15-year prospective study of pregnancy outcome 										
126282	Y	pregnancy loss, recurrent; in vitro fertilization success	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Hviid, T. V.  et al. 2004	15191524				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Tissue antigens. 2004 Jul;64(1):66-9	Association between human leukocyte antigen-G genotype and success of in vitro fertilization and pregnancy outcome.		142871	17491	2	2004	The 14-bp insertion/deletion polymorphism is associated with differences in HLA-G mRNA alternative splicing and levels of HLA-G. This might affect a possible immunomodulatory role of HLA-G expression in both the mother and foetus during implantation and pregnancy.	Case:29/61 Caucasian women undergoing IVF treatments (n=29) and recurrent spontaneous abortion women (n=61);Control:93 fertile controls										
126277	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		Matte, C.  et al. 2004	15090794				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3	African women		CDC GDPinfo	3135	Hs.512152			AIDS (London, England). 2004 Feb;18(3):427-31	Functionally active HLA-G polymorphisms are associated with the risk of heterosexual HIV-1 infection in African women.		142871	11291	2	2004	 This study demonstrates that functionally active HLA-G polymorphisms are associated with altered risk of HIV-1 infection in African women. This provides evidence to support the hypothesis that modulation of HLA-G expression by HIV-1 can contribute to the risk of infection. Targeted interventions to reduce or block HLA-G expression in genital tissues could lead to novel strategies for the prevention of heterosexual HIV-1 transmission.	Control:203 HIV-negative Zimbabwean women;Case:228 HIV-positive Zimbabwean women:Zimbabwea										
126278			UNKNOWN	UNK		6	6p21.3	HLA-G	29902722	30085613		Hviid, T. V.  et al. 2004	15133645				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Immunogenetics. 2004 Jun;56(3):135-41	HLA-G and IL-10 in serum in relation to HLA-G genotype and polymorphisms.		142871	11292	2	2004	In conclusion, this study indicates that polymorphisms in the 3'UTR and the 5'URR of the HLA-G gene may influence the expression of sHLA-G of possible importance in pathological pregnancies and also in organ transplantation.	Cohort 85 individuals attending IVF treatment 										
126279	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Abbas, A.  et al. 2004	15548266				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			European journal of immunogenetics. 2004 Dec;31(6):275-8	Analysis of human leukocyte antigen (HLA)-G polymorphism in normal women and in women with recurrent spontaneous abortions.		142871	11293	2	2004	Our data support the hypothesis that HLA-G polymorphism may contribute to recurrent foetal loss.	Control:120 fetile control women;Case:120 women with recurrent spontaneous abortions										
126274	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		O'Brien, M.  et al. 2001	11766889				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Cellular and molecular life sciences. 2001 Nov;58(13-Dec):1943-9	Altered HLA-G transcription in pre-eclampsia is associated with allele specific inheritance:possible role of the HLA-G gene in susceptibility to the disease.		142871	11288	2	2001	Thus we provide the first evidence for a possible role of HLA-G in genetic susceptibility to, and pathogenesis of pre-eclampsia.	Case mild pre-eclampsia placentas;Control normal placentas										
126275			UNKNOWN	UNK		6	6p21.3	HLA-G	29902722	30085613		Matte, C.  et al. 2002	12039526				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Human immunology. 2002 Jun;63(6):495-501	HLA-G exhibits low level of polymorphism in indigenous East Africans.		142871	11289	2	2002	These data confirm previous reports describing HLA-G exhibiting limited allelic polymorphism. Further studies are needed to determine the impact of the C727T polymorphism on the level or developmental regulation of HLA-G expression.	Cohort 45 healthy individuals from an indigenous African population. 										
126276		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Hviid, T. V.  et al. 2002	12392506				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Tissue antigens. 2002 Aug;60(2):122-32	HLA-G polymorphisms in couples with recurrent spontaneous abortions		142871	11290	2	2002	No statistically significant differences were observed in the distribution of HLA-G alleles between controls and RSA couples, however, 15% of the RSA women carried the HLA-G*0106 allele compared to 2% of the control women. The 14 bp deletion polymorphism	Control:47 fertile control couples;Case:61 recurrent spontaneous abortion couples										
126271	Y	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-E	30565249	30569072		Lajoie J,et al  2006	16362895				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4			CDC GDPinfo	3133	Hs.118354			The Journal of infectious diseases. 2006 Jan;193(2	Genetic Variants in Nonclassical Major Histocompatibility Complex Class I Human Leukocyte Antigen (HLA)-E and HLA-G Molecules Are Associated with Susceptibility to Heterosexual Acquisition of HIV-1		143010	17487	2	2006	HLA-E and HLA-G polymorphisms can independently and synergistically influence susceptibility to heterosexual acquisition of HIV-1.											
126272		cirrhosis, biliary primary; diabetes, gestational	UNKNOWN	UNK		6	6p21.3	HLA-E	30565249	30569072		Zhen, Z. J.  et al. 2004	15631661				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	Chinese		CDC GDPinfo	3133	Hs.118354			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Dec;12(6):783-7	[Analysis on HLA-E polymorphism in Guangdong Han population]		143010	24869	2	2004	In conclusion, the high conservative polymorphism of HLA-E suggests that it's biological characteristic is different from that of classical HLA class Ia molecules.	Cohort 150 unrelated healthy Chinese Han individuals Guangzhou , China 										
126273			UNKNOWN	UNK		6	6p21.3	HLA-G	29902722	30085613		Rebmann, V.  et al. 2001	11169254				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			Tissue antigens. 2001 Jan;57(1):15-21	Association of soluble HLA-G plasma levels with HLA-G alleles.		142871	11287	2	2001	These results demonstrate that the generation of sHLA-G molecules is associated to certain HLA-G alleles and imply that sHLA-G levels are under genetic control. As low and high sHLA-G plasma levels did not segregate with HLA haplotypes including the HLA-G*01013 or *01041 allele, additional mechanisms may be involved in the regulation of the individual sHLA-G levels. Nevertheless, the existence of "low" and "high secretor" HLA-G alleles further suggests different levels of functionality in immune regulation.	Cohort 92 healthy unrelated individuals 										
126268		bone marrow transplantation	IMMUNE	IMM		6	6p21.3	HLA-E	30565249	30569072		Kimkong, I.  et al. 2003	12929994				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	Chinese		CDC GDPinfo	3133	Hs.118354			Journal of the Medical Association of Thailand. 2003 Jun;86 Suppl 2:S230-6	Distribution of human leukocyte antigens-E alleles in Thailand		143010	11283	2	2003	When comparing the distribution of HLA-E alleles between each of the populations (Thai vs Chinese, Thai vs Thai-Chinese and Chinese vs Thai-Chinese), no significant difference could be found among these populations. In addition, there was no significant difference of the distribution of HLA-E alleles between the study populations and other populations from Asia	Cohort 200 healthy individuals (100 Thai, 50 Chinese and 50 Thai-Chinese) 										
126269	Y	nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-E	30565249	30569072		Hirankarn, N.  et al. 2004	15496202				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4		Thailand	CDC GDPinfo	3133	Hs.118354			Tissue antigens. 2004 Nov;64(5):588-92	HLA-E polymorphism in patients with nasopharyngeal carcinoma		143010	11284	2	2004	This observation suggests a possible role for HLA-E in NPC development, possibly via natural killer cell or cytotoxic lymphocyte function.	Case:100 Thai nasopharyngeal cancer patients;Control:100:controls										
126270	Y	bone marrow transplantation	IMMUNE	IMM	Bacterial Infections|Cytomegalovirus Infections|Neoplasms|Bone Marrow Diseases|Postoperative Complications	6	6p21.3	HLA-E	30565249	30569072		Tamouza, R.  et al. 2005	16003246				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4			CDC GDPinfo	3133	Hs.118354			Transplantation. 2005 Jul;80(1):140-4	Association of HLA-E polymorphism with severe bacterial infection and early transplant-related mortality in matched unrelated bone marrow transplantation.		143010	11286	2	2005												
126265		HIV; nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-E	30565249	30569072		Matte, C.  et al. 2000	11137220				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	African		CDC GDPinfo	3133	Hs.118354			Human immunology. 2000 Nov;61(11):1150-6	HLA-G and HLA-E polymorphisms in an indigenous African population. The ZVITAMBO Study Group.		143010	11280	2	2000	These data indicate that this African population contains low levels of allelic polymorphism similar to ethnic groups from industrialized countries. This is the first report describing HLA-G and HLA-E polymorphisms in an indigenous African population.	Cohort 108 unrelated women recruited from maternity clinics and hospitals Harare, Zimbabwe 										
126266	N	recurrent pregnancy loss	UNKNOWN	UNK	Abortion, Habitual	6	6p21.3	HLA-E	30565249	30569072		Kanai, T.  et al. 2001	11270642				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	Japanese	Japan	CDC GDPinfo	3133	Hs.118354			American journal of reproductive immunology (New York, NY :  1989). 2001 Mar;45(3):168-73	Polymorphism of human leukocyte antigen-E gene in the Japanese population with or without recurrent abortion.		143010	11281	2	2001	 Allele frequencies of HLA-E were suggested to be different in Asian people from those in other ethnic people. In light of no specific distribution pattern in recurrent aborters, HLA-E polymorphism does not seem to play a role in the pathogenesis of recurrent abortion.	Case:30 couples with recurrent abortion:Japan;Control:38 normal couples with proven fertility:Japan										
126267		diabetes, gestational	METABOLIC	MET		6	6p21.3	HLA-E	30565249	30569072		Zhao, L.  et al. 2001	11774212				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	Chinese		CDC GDPinfo	3133	Hs.118354			Zhonghua yi xue yi chuan xue za zhi. 2001 Dec;18(6):444-7	[Analysis on HLA-E polymorphism in Shanghai Han population]		143010	11282	2	2001	 The allele frequencies of HLA-E are 42.29% for E*0101, 24.88% and 32.84% for E*01031 and E*01032 respectively in Shanghai Chinese. No extensive linkage disequilibrium was found between HLA-E and HLA-A or -B locus.	Cohort 201 random healthy Chinese Han individuals Shangai, China 										
148898		schistosomiasis	INFECTION	INF	Schistosomiasis japonica	6	6p21.3	HLA-DRB1	32593131	32665559		Cheng, Y. L.  et al. 2005	16566202				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi    2005    23(6)    392-5	Microarray DNA chip in analyzing the association between HLA-DRB and advanced hepatosplenic schistosomiasis		142857		CDC	2005	Allele HLA-DRB1*04x is positively, while HLA-DRB1*15x is negatively, correlated with advanced hepatosplenic schistosomiasis.											
126263		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Warle, M. C.  et al. 2002	12089714	DR6			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		142857	11278	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
148917		Addison's disease	IMMUNE	IMM	Adrenal Insufficiency|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ghaderi, M.  et al. 2006	16849401				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Clin Endocrinol Metab    2006	MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency		142857		CDC	2006	Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes.											
126264		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DRB1	32593131	32665559		Song, D.  et al. 2002	12133402				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua fu chan ke za zhi. 2002 May;37(5):284-6	[Study on the gestational diabetes mellitus and histocompatibility human leukocyte antigen DRB allele polymorphism]		142857	26221	2	2002	 Alleles HLA-DR6 (13) were significantly implicated in their susceptibility to GDM. Conversely, HLA-DR2 (15), HLA-DR51 alleles might confer protection against GDM. HLA-DR3 gene and HLA-DR6 (13)/DR9 heterozygote were associated with severity and prognosis of GDM. It may be a marker of grade and prognosis of GDM and may direct the treatment.	Case:30 gestational diabetes melitus women;Control:40 normal prengnant women										
126259		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB4	32507027	32521973		Stephens, H. A.  et al. 2000	11082517				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Thai		CDC GDPinfo	3126	Hs.612586			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.			26987	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
126260		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Galeazzi, M.  et al. 2002	11997714				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.			26988	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
126261	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-DRB4	32507027	32521973		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	German	Germany	CDC GDPinfo	3126	Hs.612586			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).			27742	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
126256		allergy, latex; latex allergy	IMMUNE	IMM	Spinal Dysraphism|Latex Hypersensitivity|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Rihs, H. P.  et al. 2002	12209103				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			The Journal of allergy and clinical immunology. 2002 Sep;110(3):507-14	HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy			26216	2	2002	 The DQB1*0302 (DQ8) alone, the DQB1*0302 (DQ8)-DRB1*04 (DR4) haplotype, or both are significantly involved in the hevein-specific IgE immune response in HCWs with latex allergy.	Case:269/56 healthy care workers (n=269) and spina bifida patietns (n=56) with latex allergies;Control:90 nonatopic control subjects										
126257		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Dorak, M. T.  et al. 2005	15902698				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.			26985	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
126258		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA	29903802	30085613		Rossman, M. D.  et al. 2003	14508706				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996		United States	CDC GDPinfo	3126	Hs.534321			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor forSarcoidosis in Blacks and Whites			26986	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
126253		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Cardoso, C. B.  et al. 2005	15908298				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996		Brazil	CDC GDPinfo	3126	Hs.612586			European journal of dermatology. 2005 May-Jun;15(3):159-63	Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis.			26213	2	2005	These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.	Control:100:controls;Case:60 psoriasis vulgaris patients:Campinas, Brazil										
126254		allergy, latex; latex allergy; pemphigoid, bullous	IMMUNE	IMM		6	6p21.3	HLA-DRB4	32507027	32521973		Correa, P. A.  et al. 2002	12144632				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Colombian		CDC GDPinfo	3126	Hs.612586			Tissue antigens. 2002 May;59(5):436-9	HLA-DR and DQB1 gene polymorphism in the North-western Colombian population.			26214	2	2002	The most frequently observed specificities at the DRB1 locus were *07 (16.4%) and *15 (12%), and at the DQB1 locus *02 (18.8%) and *03 (33.6%), of which *0302 was the most prevalent allele (14.3%). The most polymorphic specificities were DRB1*04, 13 and 11, and DQB1*06. Both the HLA-DRB1 and DQB1 loci were in linkage disequilibrium.	Cohort 100 unrelated healthy individuals from an area in north-west Colombia (Medellin) north-west Colombia (Medellin) 										
126255		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB4	32507027	32521973		Carrington, C. V.  et al. 2002	12392858				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Trinidadian		CDC GDPinfo	3126	Hs.612586			Human immunology. 2002 Nov;63(11):1045-54	A comparison of HLA-DR and -DQ allele and haplotype frequencies in Trinidadian populations of African, South Asian, and mixed ancestry			26215	2	2002	Trinidad South Asians displayed similar allele frequencies and associations to other populations from Northern India.	Cohort 75/98/102 individuals of African (n = 75), South Asian (n = 98), and mixed (n = 102) ancestry Trinidad 										
126250		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DRB4	32507027	32521973		Dorak, M. T.  et al. 2002	12008082				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			Leukemia research. 2002 Jul;26(7):651-6	A male-specific increase in the HLA-DRB4 (DR53) frequency in high-risk and relapsed childhood ALL.			24864	2	2002	These results further suggest that the HLA system is one of the components of genetic susceptibility to leukemia but mainly in childhood and in boys only.	Case:212 high-risk or relapsed patients with childhood (n=114) and adult (n=98) ALL;Control:250 healthy controls (118 children, 132 adult)										
126251		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB4	32507027	32521973		Smikle, M.  et al. 2002	12144077				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996		Jamaica	CDC GDPinfo	3126	Hs.612586			Southern medical journal. 2002 Jul;95(7):717-9	HLA-DRB alleles and systemic lupus erythematosus in Jamaicans.			24865	2	2002	 The SLE HLA associations in Jamaicans differ from those in other black populations.	Control:100:controls;Case:70 patients with systemic lupus erythematosus										
126252		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DRB4	32507027	32521973		Kuwana, M.  et al. 2003	14677183				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			The Journal of rheumatology. 2003 Nov;30(11):2392-7	HLA class II alleles in systemic sclerosis patients with anti-RNA polymerase I/III antibody:associations with subunit reactivities.			26212	2	2003	 Our results suggest that in patients with SSc, anti-RNAP I/III antibodies are composed of subsets defined by combinations of reactivities to individual RNAP subunits having specific HLA class II correlations.	Case:257 systemic sclerosis patients (129 Japanese and 128:Caucasians);Control:271 race-matched regional controls (138 Japanese and 133 Caucasians)										
126247		rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	6	6p21.3	HLA-DRB4	32507027	32521973		Xing, Z.  et al. 2001	12541760	DRB4 * 0101			Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDPinfo	3126	Hs.612586			Lin chuang er bi yan hou ke za zhi. 2001 May;15(5):199-201	[Linkage of allergic rhinitis with HLA-DRB alleles polymorphism]			22227	2	2001	 HLA-DRB1 * 0301.2 and HLA-DRB4 * 0101 alleles might confer protection against AR.	Case:41 allergic rhinitis patients;Control:41 healthy controls										
126248		vitiligo	IMMUNE	IMM	Nevus, Pigmented|Vitiligo	6	6p21.3	HLA-DRB1	32593131	32665559		De Vijlder, H. C.  et al. 2004	15140072	DR3, DR4, DR11, DR53			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Netherlands	CDC GDPinfo	3123	Hs.534322			Pigment cell research. 2004 Jun;17(3):270-4	Difference in pathogenesis between vitiligo vulgaris and halo nevi associated with vitiligo is supported by an HLA association study.		142857	22228	2	2004	In conclusion, the differences in HLA association within clinical subtypes of vitiligo support our suggestion that vitiligo vulgaris and halo nevi associated with vitiligo have distinct pathogenic mechanisms.	Control:2,400 Dutch blood donors;Case:76 unrelated Dutch Caucasians, 40 with vitiligo vulgaris and 36 with halo nevi associated with:vitiligo										
126249	Y	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yoshizawa, K.  et al. 2005	15763345				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Journal of hepatology. 2005 Apr;42(4):578-84	Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis.		142857	22229	2	2005	 The most influential gene on type 1 AIH pathogenesis in Japanese is the HLA-DRB1. Other genes in the HLA region, including TNF-alpha, have little or no association with type 1 AIH susceptibility.											
126244	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA	29903802	30085613		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	German	Germany	CDC GDPinfo	3125	Hs.554754			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).			27475	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
126245		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA	29903802	30085613		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.			27927	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
126246	Y	thyroiditis, chronic lymphocytic	IMMUNE	IMM	Thyroiditis, Autoimmune	6	6p21.3	HLA-DRB4	32507027	32521973		Terauchi, M.  et al. 2003	15055474	DRB4*0101			Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Japanese		CDC GDPinfo	3126	Hs.612586			Journal of endocrinological investigation. 2003 Dec;26(12):1208-12	Interactions of HLA-DRB4 and CTLA-4 genes influence thyroid function in Hashimoto's thyroiditis in Japanese population.			22226	2	2003	These findings suggest that the interaction between the HLA-DRB4 and CTLA-4 genes determines the thyroid function of TPO-positive goitrous Japanese HT patients.	Control:105:controls;Case:70 Japanese Hashimoto's thyroiditis patients										
126241		hepatitis type 1, autoimmune (AIH-1)	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Goldberg, A. C.  et al. 2001	11182227	DR3, DR52, DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Feb;62(2):165-9	Analysis of HLA haplotypes in autoimmune hepatitis type 1: identifying the major susceptibility locus.		142857	26209	2	2001	We propose that peptide presentation leading to pathogenesis of AIH-1 may be quite stringent, but will also be affected by other strong genetic or environmental susceptibility factors, which would explain the various HLA molecules associated to the disease in the different populations.	Control:22:controls;Case:39 patients with autoimmune hepatitis type I										
126242		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Stephens, H. A.  et al. 2000	11082517	DR51-, DR52-, and DR53			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai		CDC GDPinfo	3123	Hs.534322			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.		142857	26210	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
126243		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613		Galeazzi, M.  et al. 2002	11997714				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.			26211	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
126238		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613		Dorak, M. T.  et al. 2005	15902698				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.			26206	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
126239	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Chaudhuri, S.  et al. 2000	11027344	DRB1*11, DQB*03032			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Proceedings of the National Academy of Sciences of the United States of America. 2000 Oct;97(21):11451-4	Genetic susceptibility to breast cancer: HLADQB*03032 and HLA DRB1*11 may represent protective alleles.		142857	26207	2	2000	HLA DQB*03032 and HLA DRB1*11 alleles may have a protective role in human breast cancer.	Case:176 Caucasian women diagnosed with early-onset breast:cancer;Control:215 ethnically matched controls										
126240		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA	29903802	30085613		Rossman, M. D.  et al. 2003	14508706				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987		United States	CDC GDPinfo	3125	Hs.554754			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites			26208	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
126236	Y	lung cancer; Lambert-Eaton myasthenic syndrome	CANCER	CAN	Carcinoma, Small Cell|Lambert-Eaton Myasthenic Syndrome|Lung Neoplasms	6	6p21.3	HLA-B	31344507	31432914		Wirtz, P. W.  et al. 2005	15652424	B8, DR3			Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Great Britain|Netherlands	CDC GDPinfo	3106	Hs.77961			Journal of neuroimmunology. 2005 Feb;159(2-Jan):230-7	HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome		142830	26204	2	2005	We propose that two distinct immunopathogenetic routes can lead to one clinically and serologically indistinguishable autoimmune myasthenic syndrome. HLA-DR3-B8 is strongly associated with LEMS in nontumor patients only. In other LEMS patients, SCLC apparently provides a powerful autoimmunogenic stimulus that overrides HLA restrictions in breaking tolerance to calcium channels. Moreover, negativity for HLA-B8 combined with smoking behavior points more strongly to an underlying SCLC and predicts a worse prognosis in SCLC-LEMS patients.	Control:controls;Case:48/29 British (n=48) and Dutch (n=29) Caucasian Lambert-Eaton myasthenic syndrome patients	smoking (tobacco)									
126237		sporadic inclusion body myositis	OTHER	OTH	Myositis, Inclusion Body|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Price, P.  et al. 2004	15496200	DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Nov;64(5):575-80	Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an associationwith HLA-DR3.		142857	26205	2	2004	The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele.	Control:214 ethnically similar controls;Case:42 sporadic inclusion body myositis patients										
126232		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613		Cardoso, C. B.  et al. 2005	15908298				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987		Brazil	CDC GDPinfo	3125	Hs.554754			European journal of dermatology. 2005 May-Jun;15(3):159-63	Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis.			24860	2	2005	These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.	Control:100:controls;Case:60 psoriasis vulgaris patients:Campinas, Brazil										
126233		allergy, latex; latex allergy; pemphigoid, bullous	IMMUNE	IMM		6	6p21.3	HLA	29903802	30085613		Correa, P. A.  et al. 2002	12144632				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Colombian		CDC GDPinfo	3125	Hs.554754			Tissue antigens. 2002 May;59(5):436-9	HLA-DR and DQB1 gene polymorphism in the North-western Colombian population.			24861	2	2002	The most frequently observed specificities at the DRB1 locus were *07 (16.4%) and *15 (12%), and at the DQB1 locus *02 (18.8%) and *03 (33.6%), of which *0302 was the most prevalent allele (14.3%). The most polymorphic specificities were DRB1*04, 13 and 11, and DQB1*06. Both the HLA-DRB1 and DQB1 loci were in linkage disequilibrium.	Cohort 100 unrelated healthy individuals from an area in north-west Colombia (Medellin) north-west Colombia (Medellin) 										
126234		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA	29903802	30085613		Carrington, C. V.  et al. 2002	12392858				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Trinidadian		CDC GDPinfo	3125	Hs.554754			Human immunology. 2002 Nov;63(11):1045-54	A comparison of HLA-DR and -DQ allele and haplotype frequencies in Trinidadian populations of African, South Asian, and mixed ancestry			24862	2	2002	Trinidad South Asians displayed similar allele frequencies and associations to other populations from Northern India.	Cohort 75/98/102 individuals of African (n = 75), South Asian (n = 98), and mixed (n = 102) ancestry Trinidad 										
126229		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	6	6p21.3	HLA	29903802	30085613		Yoshizawa, K.  et al. 2003	12694584				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987		Japan	CDC GDPinfo	3125	Hs.554754			Tissue antigens. 2003 Feb;61(2):159-65	Long-term follow-up of hepatitis C virus infection:HLA class II loci influences the natural history of the disease.			24857	2	2003	Our findings establish that certain HLA class II alleles strongly influence disease progression following HCV infection.	Cohort 103 chronically infected Japanese HCV patients 										
149003		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-DRB1	32593131	32665559		Douroudis, K.  et al. 2007	17498269				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Greek		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		142857		CDC	2007												
126231		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA	29903802	30085613		Kuwana, M.  et al. 2003	14677183				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			The Journal of rheumatology. 2003 Nov;30(11):2392-7	HLA class II alleles in systemic sclerosis patients with anti-RNA polymerase I/III antibody:associations with subunit reactivities.			24859	2	2003	 Our results suggest that in patients with SSc, anti-RNAP I/III antibodies are composed of subsets defined by combinations of reactivities to individual RNAP subunits having specific HLA class II correlations.	Case:257 systemic sclerosis patients (129 Japanese and 128:Caucasians);Control:271 race-matched regional controls (138 Japanese and 133 Caucasians)										
149065	P		NORMALVARIATION	NV		13		HMGB1	29930878	30089510		Kornblit, B.  et al. 2007	17610420				High-mobility group box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002128.4	Caucasian;Danish		CDC GDP info	3146	Hs.434102			Tissue Antigens    2007    70(2)    151-156	The genetic variation of the human HMGB1 gene		163905		CDC	2007												
126226		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DRB4	3870634	3883702		Dorak, M. T.  et al. 2002	12008082				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.612586			Leukemia research. 2002 Jul;26(7):651-6	A male-specific increase in the HLA-DRB4 (DR53) frequency in high-risk and relapsed childhood ALL.			22223	2	2002	These results further suggest that the HLA system is one of the components of genetic susceptibility to leukemia but mainly in childhood and in boys only.	Case:212 high-risk or relapsed patients with childhood (n=114) and adult (n=98) ALL;Control:250 healthy controls (118 children, 132 adult)										
126227		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB3	3870634	3883702		Smikle, M.  et al. 2002	12144077	DRB3*01/03, DRB1			Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987		Jamaica	CDC GDPinfo	3125	Hs.554754			Southern medical journal. 2002 Jul;95(7):717-9	HLA-DRB alleles and systemic lupus erythematosus in Jamaicans.			22224	2	2002	 The SLE HLA associations in Jamaicans differ from those in other black populations.	Control:100:controls;Case:70 patients with systemic lupus erythematosus										
126228		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DRB1	32593131	32665559		Song, D.  et al. 2002	12133402	DR6, DR2, DR3, DR51			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua fu chan ke za zhi. 2002 May;37(5):284-6	[Study on the gestational diabetes mellitus and histocompatibility human leukocyte antigen DRB allele polymorphism]		142857	22225	2	2002	 Alleles HLA-DR6 (13) were significantly implicated in their susceptibility to GDM. Conversely, HLA-DR2 (15), HLA-DR51 alleles might confer protection against GDM. HLA-DR3 gene and HLA-DR6 (13)/DR9 heterozygote were associated with severity and prognosis of GDM. It may be a marker of grade and prognosis of GDM and may direct the treatment.	Case:30 gestational diabetes melitus women;Control:40 normal prengnant women										
126223		psoriasis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Tang, T. F.  et al. 2002	11872240	DRB1*03, DRB3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Mar;63(3):221-8	DRB1*03 diversity and DRB3 associations in five major population groups in the United States.		142857	22220	2	2002	A total of six DRB1*03 alleles out of 21 known alleles were detected. DRB1*03011 was the predominant DRB1*03 allele in all populations.	Cohort 161 DRB1*03 positive individuals from each of five U.S. population groups (Caucasoids, African Americans, Asians/Pacific Islanders, Hispanics, and Native Americans) were randomly selected from a database of 82,979 individuals 										
126224		psoriasis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Gans, C. P.  et al. 2002	12144619	DRB1*14			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):364-9	DRB1*14 diversity and DRB3 associations in four major population groups in the United States.		142857	22221	2	2002	This study completes the exon 2 sequences of previously identified alleles, DRB1*1405-*1408, including the identification of two silent codon 90 variants of DRB1*1407. In addition, two new DRB1*14 alleles, DRB1*1441 and DRB1*1442, are described.	Cohort 82,979 individuals randomly selected from each of four U.S. population groups, Caucasoids, African Americans, Asians/Pacific Islanders, and Hispanics US 										
126225		psoriasis	IMMUNE	IMM		6	6p21.3	HLA	29903802	30085613		Casamitjana, N.  et al. 2005	15620466				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			Human immunology. 2005 Jan;66(1):85-91	Development of a new HLA-DRB real-time PCR typing method.			22222	2	2005	Identical results were obtained with all samples. This new method also reduced ambiguous results and was faster and less cumbersome than currently used PCR-SSP or PCR-SSO techniques.	Cohort 200 clinical samples previously typed for HLA-DRB using standard PCR-based method 										
126221		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB3	3870634	3883702		Song, E. Y.  et al. 2004	15041167				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Korean		CDC GDPinfo	3125	Hs.554754			Human immunology. 2004 Mar;65(3):270-6	HLA-DRB1 and -DRB3 allele frequencies and haplotypic associations in Koreans			22218	2	2004	Comparison with other ethnic groups revealed that DRB1*0301 and *1301 related DRB1-DRB3 haplotypes vary among different populations, in that Koreans and other Asian populations show less diversity compared with Caucasoids or African Americans.	Cohort 6,000 Koreans Cohort 800 Koreans 										
126222	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Bogunia-Kubik, K.  et al. 2001	11169267				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			Tissue antigens. 2001 Jan;57(1):87-90	HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis.			22219	2	2001	An analysis of DRB1 and DRB3 associations in variants of sarcoidosis revealed that DRB1*03 and DRB3*0101 were associated with Lofgren's syndrome in a combined association fashion. Conversely, a lack of DRB1*11 and/or DRB1*12 but not DRB3*0201/2 favored the clinical course of sarcoidosis.	Case sarcoidosis patients;Control normal controls										
126217		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Fernandez, L.  et al. 2002	12074713				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3		Spain	CDC GDPinfo	3122	Hs.520048			Tissue antigens. 2002 Mar;59(3):219-22	Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease.		142860	24696	2	2002	Our results indicate that although there is no primary association between MICA polymorphism and CD, there is, in addition to HLA-DQ, a second susceptibility locus on the 8.1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele.											
126218		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		De la Concha, E. G.  et al. 2002	12370403				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			Journal of immunology (Baltimore, Md :  1950). 2002 Oct;169(8):4637-43	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes.		142860	26168	2	2002	Our results show how, in complex diseases, individuals may be affected for different genetic reasons and a single linkage signal to a region of a chromosome may actually be the result of disease-predisposing alleles in different linked genes in different pedigrees.	Case:182 IgA deficiency patients (and parents and siblings of 100 of these patients);Control:343:controls										
126219		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRA	32515624	32520802		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		142860	27461	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
126214		IgA, IgD, IgG, IgM	IMMUNE	IMM		6	6p21.3	HLA-DRA	32515624	32520802		Marroni, F.  et al. 2004	15361126				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Italian		CDC GDPinfo	3122	Hs.520048			Tissue antigens. 2004 Oct;64(4):478-85	Microgeographic variation of HLA-A, -B, and -DR haplotype frequencies in Tuscany, Italy:implications for recruitment of bone marrow donors.		142860	24693	2	2004	A considerable level of heterogeneity of haplotype frequency was present among subsamples; this heterogeneity was associated to a large variation (up to 4-fold) of the number of new donors that must be typed in order to reach 50% chance of finding an HLA-A, -B phenotype of intermediate frequency. Knowledge of the genetic structure of the population at a microgeographic level may be useful in directing the search of specific bone marrow donors.	Cohort 2,355 bone marrow donors a subregion of Tuscany (Italy) 										
126215		hepatitis, fulminant non-A, nonB	INFECTION	INF	Hepatitis C	6	6p21.3	HLA-DRA	32515624	32520802		Gow, P.  et al. 2005	15836703				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			Journal of gastroenterology and hepatology. 2005 Apr;20(4):555-61	Association of fulminant non-A non-B hepatitis with homozygosity for HLA A1-B8-DR3.		142860	24694	2	2005	 Homozygosity for the HLA haplotype A1-B8-DR3 confers susceptibility to the development of fulminant NANB hepatitis. This observation may imply a role for the immune response genes (which are flanked by HLA B and DR) in the pathogenesis of this syndrome.	Control:1,449 local Caucasian controls;Case:55 adult Caucasian fulminant NANB patients										
126216		stroke, ischemic	CARDIOVASCULAR	CARD	Respiratory Tract Infections|Cerebrovascular Accident|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Zou, L. P.  et al. 2002	12373032				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3		China	CDC GDPinfo	3122	Hs.520048			European neurology. 2002 ;48(3):153-7	Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.		142860	24695	2	2002	Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition.	Case idiopathic childhood stroke subjects;Control:controls	bacterial infection viral infection									
126211		latex-fruit syndrome	IMMUNE	IMM	Food Hypersensitivity|Latex Hypersensitivity	6	6p21.3	HLA-DRA	32515624	32520802		Blanco, C.  et al. 2004	15536412				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			The Journal of allergy and clinical immunology. 2004 Nov;114(5):1070-6	Genetic basis of the latex-fruit syndrome:association with HLA class II alleles in a Spanish population.		142860	22049	2	2004	 Latex-fruit allergy is associated with HLA-DQB1 *0201, DRB1 *0301, and *0901, as well as with HLA-DR functional group E, whereas latex-not-fruit allergy is associated with DQB1 *0202, and with both DRB1 *0701 and *1101 alleles.	Control;Case:78 patients allergic to latex without spina bifida, 33% of them also allergic to fruits										
126212		HIV infection	INFECTION	INF	HIV Infections|Disease Progression|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Lockett, S. F.  et al. 2001	11464148				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			Journal of acquired immune deficiency syndromes (1999). 2001 Jul;27(3):277-80	Mismatched Human Leukocyte Antigen Alleles Protect Against Heterosexual HIV Transmission		142860	24691	2	2001	Analysis of the frequencies of specific alleles at the A, B, and DR loci revealed a significantly higher frequency of HLA DR5 among exposed uninfected individuals, relative to population controls.	Cohort 80 individuals at risk for heterosexual HIV infection 										
126213		myasthenia gravis	IMMUNE	IMM	Multiple Sclerosis|Myasthenia Gravis	6	6p21.3	HLA-DRA	32515624	32520802		Donmez, B.  et al. 2004	15301866				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Turkish	Turkey	CDC GDPinfo	3122	Hs.520048			Human immunology. 2004 Jul;65(7):752-7	HLA genotypes in Turkish patients with myasthenia gravis: comparison with multiple sclerosis patientson the basis of clinical subtypes and demographic features.		142860	24692	2	2004	This is the first study to examine the relationship between HLA haplotypes and MG in the Turkish population and to compare MG with another autoimmune disease, MS, on the basis of the HLA haplotypes. Further investigations with a larger population are required to explain this finding.	Control:122/188 clinically definite multiple sclerosis patients (n=122) and healthy subjects (n=188);Case:66 Turkish patients with myasthenia gravis										
126208		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRA	32515624	32520802		Rasmussen, H. B.  et al. 2001	11239948				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Chinese	Europe	CDC GDPinfo	3122	Hs.520048			Journal of the neurological sciences. 2001 Mar;184(2):143-7	CTLA4 in multiple sclerosis. Lack of genetic association in a European Caucasian population but evidence of interaction with HLA-DR2 among Shanghai Chinese.		142860	22046	2	2001	Our results do not support the assumption that CTLA4 influences susceptibility to MS in European Caucasians. On the other hand, they raise the possibility that the development of MS in other ethnic groups involves interaction between CTLA4 and DR2.	Control:125 healthy control subjects from a population of white:Caucasians;Case:84 MS patients from a population of white Caucasians										
126209		spondyloarthropathies	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Vargas-Alarcon, G.  et al. 2002	12117677				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Mexican	Mexico	CDC GDPinfo	3122	Hs.520048			Annals of the rheumatic diseases. 2002 Aug;61(8):714-7	Effect of HLA-B and HLA-DR genes on susceptibility to and severity of spondyloarthropathies in Mexican patients.		142860	22047	2	2002	 Apart from HLA-B27, there is a significant association of HLA-DR1 and HLA-B15 with SpA in Mexicans which is independent of B27. HLA-B27 is associated with younger age at onset and increased disease severity and HLA-DR1 with older age at onset. The strength of HLA-B15, HLA-B27, and HLA-DR1 associations varied in different forms of SpA.	Case:172 patients with spondyloarthropathies (undifferentiated SpA 83, ankylosing spondylitis (AS) 64, and reactive arthritis 25);Control:99 healthy controls										
126205		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Anticipation, Genetic	6	6p21.3	HLA-DRA	32515624	32520802		Radstake, T. R.  et al. 2001	11361223				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3		Europe|Netherlands	CDC GDPinfo	3122	Hs.520048			The Journal of rheumatology. 2001 May;28(5):962-7	Genetic anticipation in rheumatoid arthritis in Europe. European Consortium on Rheumatoid Arthritis Families.		142860	17453	2	2001	 Our data suggest that genetic anticipation in RA does occur in terms of an earlier disease onset in the offspring. Despite a slightly higher prevalence of HLA alleles encoding for the SE, probands with confirmed parental RA had no worse outcome than those without.	49 Parent offspring pairs with rheumatoid arthritis (28 Dutch, 21 European) 										
126206		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Goljan, A.  et al. 2000	11320565				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Polish	Poland	CDC GDPinfo	3122	Hs.520048			Pneumonol Alergol Pol. 2000 ;68(12-Nov):545-56	[A probe for evaluating the role of HLA class II antigens coded with the DRB gene in etiopathogenesis of familial sarcoidosis in Poland using the K-nearest neighbor experimental statistical method]		142860	17454	2	2000	We concluded that using HLA-DR antigens as features characterising every individual we can predict with high probability to which class ("high risk" or "healthy") individual would belong.	Control:101 healthy control group;Case:111 from 17 familes with familial occurrence of:sarcoidosis:Poland										
126207		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Myung, S. J.  et al. 2002	12073071				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Japanese	Korea	CDC GDPinfo	3122	Hs.520048			International journal of colorectal disease. 2002 Jul;17(4):233-7	HLA-DRB1*1502 confers susceptibility to ulcerative colitis, but is negatively associated with its intractability: a Korean study.		142860	17459	2	2002	 Our data are consistent with those of Japanese studies in that DR2 and DRB1*1502 are positively associated with UC patients. In contrast to the Japanese study, however, our results demonstrates that DRB1*1502 is negatively associated with the risk of colectomy in Korean patients with UC.	Control:182 ethnically matched unrelated controls;Case:70 patients with ulcerative colitis:Korea										
126203		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Zhang, J.  et al. 1997	11324494				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Chinese	China	CDC GDPinfo	3122	Hs.520048			Chinese medical sciences journal. 1997 Jun;12(2):107-10	The polymorphisms of HLA-DR and TNF B loci in northern Chinese Han nationality and susceptibility to systemic lupus erythematosus.		142860	12242	2	1997	Analysis of 51 patients with SLE and 80 healthy control also revealed that the frequency of TNFB*2 allele was significantly increased (P < 0.05, RR = 1.70). Therefore TNFB*2 gene may also be a susceptibility gene or a marker gene for SLE in northern Chinese Han nationality. It was also investigated the association between HLA-DR, TNF B alleles and Patient plasmic SC5b-9 levels, auto-antibodies (anti-SSA, SSB, Sm, RNP, ds DNA and ANA) and SLE complications (SLE nephritis, SLE pneumonitis and SLE encephalopathy), no relationship was found.	Control:106 healthy controls;Case:51 systemic lupus erythematosus northern Chinese Han nationality										
126204	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRA	32515624	32520802		Schipper, R. F.  et al. 2001	11260509				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Dutch		CDC GDPinfo	3122	Hs.520048			Tissue antigens. 2001 Feb;57(2):144-50	HLA class II associations with Type 1 diabetes mellitus: a multivariate approach		142860	17452	2	2001	the results from haplotype, genotype, and tree analyses provide insight into the disease associations for combinations of HLA-DRDQ haplotypes. We confirm that the DR9DQ9/DR17DQ2 genotype is associated with susceptibility in the Dutch population, which has previously been noticed as a HLA risk genotypes in Asian populations only.	Case:206 Dutch IDDM patients;Control:840 serologically typed random healthy unrelated Dutch Caucasoid controls										
126199		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Barton, A.  et al. 2002	11981324				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		604305	27926	2	2002	Review article											
126200		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21	HLA-DQB2	32831852	32839245		Kochi, Y.  et al. 2004	14730600	HLA-DQB2, HLA-DRB1 *0405, *0401, *0901, *0101, *1401, *1602, *0403, and *1405			Major histocompatibility complex, class II, DQ beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182549	Japanese	Japan	CDC GDPinfo	3120	Hs.554753			Arthritis and rheumatism. 2004 Jan;50(1):63-71	Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences		604305	11254	2	2004	 These findings suggest that 1 or more other loci besides the HLA-DRB1 or other DRB1 (non-shared epitope, non-*0901) alleles are involved in RA susceptibility/protection.	Control:1,032:controls;Case:828 patients with rheumatoid arthritis										
126201		oral lichen planus	INFECTION	INF	Hepatitis C|Lichen Planus, Oral	6	6p21.3	HLA-DRA	32515624	32520802		Carrozzo, M.  et al. 2001	11298540				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3	Italian		CDC GDPinfo	3122	Hs.520048			The British journal of dermatology. 2001 Apr;144(4):803-8	Increased frequency of HLA-DR6 allele in Italian patients with hepatitis C virus-associated oral lichen planus.		142860	11255	2	2001	 HCV-related OLP therefore appears to be a distinctive subset particularly associated with the HLA class II allele HLA-DR6. This could partially explain the peculiar geographical heterogeneity of the association between HCV and LP.	Control:145 healthy unrelated bone marrow donors without evidence of liver disease or history of lichen planus and with negative tests for HCV:Italian;Case:44 consecutive oral lichen planus patients with HCV:infection:Italian;Control:60 age, sex and clinically comparable disease control group of oral lichen planus patients without HCV:infection:Italian	hepatitis C									
126196	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Philippines	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		604305	27458	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
126197		lymphoma	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Tunisian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		604305	27459	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
126198		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		604305	27460	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
126193		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Hildesheim, A.  et al. 2002	12464650				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	Taiwan	CDC GDPinfo	3119	Hs.409934			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		604305	26946	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
126194	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Donaldson, P. T.  et al. 2002	12100571				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		604305	26947	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
126195		maternal microchimerism	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Berry, S. M.  et al. 2004	15128924				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		604305	27457	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
126190		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Yang, S.  et al. 2004	15245541				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		604305	26943	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
126191		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Rajalingam, R.  et al. 2002	11904677				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		604305	26944	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
126192		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Migot-Nabias, F.  et al. 2001	11294566				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Gabon	CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		604305	26945	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
126187		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		604305	26940	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
126188		diabetes, type 2; diabetes, type 1	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Muro, M.  et al. 2001	11543893				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish		CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		604305	26941	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
126189		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Farjadian, S.  et al. 2004	15496201				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		604305	26942	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
126184		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Saito, S.  et al. 2000	11169242				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		604305	26937	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
126185	Y	pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kawa, S.  et al. 2002	11984513				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		604305	26938	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)										
126186		graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Shaw, B. E.  et al. 2003	12774051				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		604305	26939	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
126181	N	nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Zhou, J.  et al. 2003	12778461				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):262-4	[Association study on HLA-DP and -DQ allelic polymorphisms and nasopharyngeal carcinoma in the Han nationality in Hunan province]		604305	26166	2	2003	 No significant association between the HLA-DP and HLA-DQ loci and NPC in Han nationality in Hunan province was confirmed.	Case:87 Chinese Han nasopharyngeal cancer patients Hunan province, China;Control:91 normal controls										
126182		leishmaniasis	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Olivo-Diaz, A.  et al. 2004	15041165				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Mar;65(3):255-61	Role of HLA class II alleles in susceptibility to and protection from localized cutaneous leishmaniasis		604305	26167	2	2004	Resistance was found associated to DPB1*0401, thus *0401 "motif" could be an ideal candidate for the development of a vaccine. DR2 (DRB1*1500+DRB1*1600) has also a significant p for protection, suggesting that the sequence common to this group of antigens may anchor parasite peptides which trigger a protective response.	Control:100 healthy controls;Case:65 patients with localized cutaneous leishmaniasis										
126183		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-DQB1	32735641	32742374		Shao, W.  et al. 2004	15304010				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		604305	26936	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
126178		Sjogren's syndrome	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Street, J.  et al. 2003	12648281				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2003 Apr;30(2):129-31	Immunogenetics of the rare HLA-B allele B*4408.		604305	26163	2	2003	The phenotype and gene frequencies of B*4408 were 0.01235% and 0.00006, respectively.	Cohort 40,473 subjects residing in Wales 										
126179		scleroderma; jaundice	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Tsuchiya, K.  et al. 2001	11929590				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Dec;58(6):395-401	Combination of HLA-A and HLA class II alleles controls the susceptibility to rheumatoid arthritis.		604305	26164	2	2001	Our results suggested the possibility that the susceptibility to RA is controlled by the interaction of HLA-A and DRBl genes or by that of HLA-A and DPBl genes in different patient subgroups.											
126180		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16386646				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Southwestern American Indian		CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Oct;66(10):1050-6	HLA Alleles and Risk of Cervical Intraepithelial Neoplasia Among Southwestern American Indian Women		604305	26165	2	2005												
126175		multiple sclerosis; optic neuritis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis	6	6p21.3	HLA-DQB1	32735641	32742374		Amirzargar, A. A.  et al. 2005	15613143				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of neurology. 2005 Jan;12(1):25-30	Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-upstudy		604305	26160	2	2005	In conclusion existence of common genetic basis for early manifestations of MS could be suggested.	Control:controls;Case:56 Iranian optic neuritis and multiple sclerosis patients (46 females and 10 males)										
126176	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DQB1	32735641	32742374		Parapanissiou, E.  et al. 2005	15853903				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Greek	Greece	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 May;65(5):481-4	HLA antigens in Greek children with allergic bronchial asthma.		604305	26161	2	2005	The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children.	Control:125 healthy, unrelated Greek children without medical history of atopy;Case:60 Greek children with allergic bronchial asthma due to mite sensitivity:Greece										
126177		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Nejentsev, S.  et al. 2000	11118029				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		604305	26162	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
126172		melanoma	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Spinola, H.  et al. 2005	16101833				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 Sep;66(3):217-30	HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands.		604305	26157	2	2005												
126173		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16343061				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDPinfo	3119	Hs.409934			Liver international. 2005 Dec;25(6):1122-7	Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population		604305	26158	2	2005	 These results suggest that particular HLA alleles may have an influence on chronic HCV infection as a host genetic factor in the Korean population.											
126174		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kheradvar, A.  et al. 2004	15471368				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Iran	CDC GDPinfo	3119	Hs.409934			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):526-31	Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-yearfollow-up study.		604305	26159	2	2004	 The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.	Cohort 55 patients with a potential diagnosis of acute optic neuritis (20 were confirmed for the diagnosis of multiple sclerosis) Iran 										
126169		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Cryoglobulinemia|Autoimmune Diseases	6	6p21.3	HLA-DQB1	32735641	32742374		Vassilopoulos, D.  et al. 2003	14740435				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and experimental rheumatology. 2003 Nov-Dec;21(6 Suppl 32):S101-11	Study of host and virological factors of patients with chronic HCV infection and associated laboratory or clinical autoimmune manifestations.		604305	26154	2	2003	 Chronically infected HCV patients with symptomatic mixed cryoglobulinemia display a number of unique characteristics that differentiate them from asymptomatic patients with chronic hepatitis C.	Cohort 40 HCV patients with liver disease only (n = 11), with laboratory (n = 20) or clinical (n = 9) autoimmune manifestations 										
126170		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Sanchez-Velasco, P.  et al. 2003	12753657				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 May;61(5):384-92	HLA alleles in isolated populations from North Spain: origin of the Basques and the ancientIberians.		604305	26155	2	2003	These populations have been compared with neighbouring ones and other Mediterraneans by using neighbour-joining dendrograms and plane genetic distances.	Cohort three relatively isolated populations of northern Spain from Cantabria ( Pas Valleys inhabitants or Pasiegos and Cabuernigos) and from the Basque Country (Arratia Valley inhabitants) 										
126171		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases|Genetic Predisposition to Disease|Hyperplasia	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandez-Mestre, M. T.  et al. 2004	14700596				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Venezuela	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Jan;65(1):54-9	HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis		604305	26156	2	2004	Thus, our results reflect the heterogeneity of our population and of the patients tested and suggest a limited influence of several HLA genes in this heterogenous disease or that these might be only markers of nearby non-HLA genes responsible for the susceptibility or resistance effect.	Case ethnically mixed Venezuelan patients with myasthenia gravis;Control:controls										
126166		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DQB1	32735641	32742374		Wang, C.  et al. 2004	15057902				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		604305	26151	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
126167		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Li, S.  et al. 2004	15009808				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		604305	26152	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
126168		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Bera, O.  et al. 2001	11285127				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Mar;57(3):200-7	HLA class I and class II allele and haplotype diversity in Martinicans.		604305	26153	2	2001	In the whole, using PCR-based genotyping methods for HLA class I and class II loci, this study allows a preliminary description of HLA allele distribution in this Caribbean island and gives new elements which may be helpful in the anthropologic field as well as in HLA and disease association studies.	Cohort 100 Martinicans (admixture between African and French Caucasians) Martinicans 										
126163		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Malkki, M.  et al. 2005	16029431				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 Aug;66(2):114-24	MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donorhematopoietic transplantation and disease association studies.		604305	26148	2	2005												
126164		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Lymphatic Metastasis	6	6p21.3	HLA-DQB1	32735641	32742374			16365741				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish		CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2006 Jan;57(12):926-33	HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis		604305	26149	2	2005												
126165	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	German	Germany	CDC GDPinfo	3119	Hs.409934			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		604305	26150	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
126160		oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Chen, H. M.  et al. 2004	15061705				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Taiwanese	Taiwan	CDC GDPinfo	3119	Hs.409934			Journal of oral pathology & medicine. 2004 Apr;33(4):191-9	HLA typing in Taiwanese patients with oral submucous fibrosis.		604305	26145	2	2004	 We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF.	Case:135 Taiwanese oral submucous fibrosis patients:Taiwan;Control:540 healthy control Taiwanese										
126161		arthrofibrosis	OTHER	OTH	Joint Diseases|Knee Injuries|Genetic Predisposition to Disease|Fibrosis|Postoperative Complications	6	6p21.3	HLA-DQB1	32735641	32742374		Skutek, M.  et al. 2004	15122136				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Germany	CDC GDPinfo	3119	Hs.409934			Arthroscopy. 2004 May;20(5):469-73	Screening for arthrofibrosis after anterior cruciate ligament reconstruction: analysis ofassociation with human leukocyte antigen.		604305	26146	2	2004	 A possible link may exist between arthrofibrosis and HLA-Cw*07- and DQB1*06-negative as well as Cw*08-positive individuals. Further investigation is necesessary to confirm or vitiate the possible association. LEVEL OF EVIDENCE: Level IV.	Cohort 17 patients with primary arthrofibrosis after autologous anterior cruciate ligament 										
126162		psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Lee, K. W.  et al. 2005	15853898				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 May;65(5):437-47	Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population.		604305	26147	2	2005	Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.	Cohort 485 apparently unrelated healthy Korean individuals Korea 										
126157		typhoid fever	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Machulla, H. K.  et al. 2003	12753667				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Turkish		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Apr;61(4):292-9	Genetic affinities among Mongol ethnic groups and their relationship to Turks.		604305	26142	2	2003	The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.	Cohort Khalkha, Oold and Tsaatan Turks Mongolia 										
126158		periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Stein, J.  et al. 2003	12941076				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of periodontal research. 2003 Oct;38(5):508-17	Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis?		604305	26143	2	2003	 The present study elucidates the variety of HLA associations and therefore the difficulty to assign single HLA markers to periodontal disease. Susceptibility/resistance of both aggressive and chronic periodontitis may rather be influenced by particular HLA marker combinations. Associated HLA haplotypes may be of further importance for unknown gene loci representing a part of the genetic background for periodontitis. The different associations in aggressive and chronic periodontitis indicate different susceptibility/resistance factors for both diseases.	Control:102 control probands without periodontitis;Case:50/102 German Caucasian groups with generalized aggressive (N = 50) and chronic (N = 102) periodontitis										
126154		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Carrington, M.  et al. 2003	12525683				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annual review of medicine. 2003 ;54:535-51	The influence of HLA genotype on AIDS		604305	26139	2	2003	Review article											
126155		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Flores-Villanueva, P. O.  et al. 2003	12574360				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of immunology (Baltimore, Md :  1950). 2003 Feb;170(4):1925-9	Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.		604305	26140	2	2003	In conclusion, our study confirms that the molecular mechanisms underlying the associations between HLA genes and AIDS disease progression are not always direct effects of HLA restriction but can also be indirect effects due to LD, or both.	Control:198 slow progressors to AIDS;Case:74 rapid progressors to AIDS:France										
126151		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-DQB1	32735641	32742374		McKiernan, S. M.  et al. 2004	15239092				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Hepatology (Baltimore, Md). 2004 Jul;40(1):108-14	Distinct MHC class I and II alleles are associated with hepatitis C viral clearance, originating from a single source.		604305	26136	2	2004	In conclusion, certain class I alleles are associated with outcome in this homogeneous cohort. More significantly, either HLA-A*03, -DRB1*0101, or -*0401 are carried by an overwhelming majority of those subjects who successfully clear HCV.	Cohort 227 										
126152	N	lymphoma	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Maitland, K.  et al. 2004	15546341				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Dec;64(6):678-86	HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia.		604305	26137	2	2004	No consistent pattern was demonstrated for any HLA locus in relation to malaria endemicity.	Cohort 367 unrelated Melanesians Vanuatu and New Caledonia 										
126153		alveolitis, extrinsic allergic	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374			16362107				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):29	[HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).]		604305	26138	2	2005												
126148		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DQB1	32735641	32742374		Miyagawa, S.  et al. 2002	11841366				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			The British journal of dermatology. 2002 Jan;146(1):52-8	Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.		604305	26133	2	2002	 These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV.	Control normal controls subjects;Case:51 Japanese patients with pemphigus										
126149		stem cell transplantation outcome	OTHER	OTH	Leukemia|Lymphoma|Anemia, Aplastic|Myelodysplastic Syndromes|Genetic Diseases, Inborn|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Morishima, Y.  et al. 2002	12010826				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Blood. 2002 Jun;99(11):4200-6	The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.		604305	26134	2	2002	Thus, the role of the HLA class I allele in unrelated bone marrow transplantation was elucidated. Notably, HLA-C alleles had a different mode from HLA-A or -B alleles for acute GVHD and survival.	Cohort 1298 donor-patient pairs in cases where marrow was donated from serologically HLA-A, -B, and -DR compatible donors 										
126150		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-DQB1	32735641	32742374		Yu, M. L.  et al. 2003	12825172				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Taiwanese	Taiwan	CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2003 Jul;188(1):62-5	Human leukocyte antigen class I and II alleles and response to interferon-alpha treatment, in Taiwanese patients with chronic hepatitis C virus infection.		604305	26135	2	2003	This suggests a role for a complex host-immunogenetics interplay in the response to IFN-alpha, in patients with chronic HCV infection.	Cohort 100 unrelated Taiwanese patients with chronic hepatitis C virus infection 										
126146		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gaede, K. I.  et al. 2005	15750822				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		United States|Israel|Germany	CDC GDPinfo	3119	Hs.409934			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		604305	24690	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
126147		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		de Pablo, R.  et al. 2000	11169240				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	South American		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2000 Dec;56(6):507-14	HLA class I and class II allele distribution in the Peruvian population.		604305	26132	2	2000	Our data are consistent with the Mestizo character of this population. In terms of genetic distance Peruvians are closest to Bolivians, which is in agreement with the geographical location and the cultural and anthropological background of the two human groups. Several HLA-B alleles originally described in genetically isolated Amerindian tribes are also present in the sample studied here. This fact and the reported finding of these alleles in several Amerindian groups suggests that they were present in the first wave of humans that populated South America (Paleoindians) before they split to give rise to the different South American tribes.	Cohort Peruvian population sample Peru 										
126143		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Donaldson, P. T.  et al. 2001	11318984				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China|Hong Kong	CDC GDPinfo	3119	Hs.409934			Liver. 2001 Apr;21(2):143-8	HLA class II alleles in Chinese patients with hepatocellular carcinoma		604305	24687	2	2001	 Although none of these associations was significant after correction for multiple testing, this report suggests that further investigations are warranted.	Case:123 hepatitis B surface antigen positive patients (84 with hepatocellular carcinoma and 39 without);Control:124 matched controls										
126144		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Uveitis, Anterior	6	6p21.3	HLA-DQB1	32735641	32742374		Alsaeid, K.  et al. 2005	15703957				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rheumatology international. 2006 Jan;26(3):224-8	The prevalence of human leukocyte antigen (HLA) DR/DQ/DP alleles in Kuwaiti children with oligoarticular juvenile idiopathic arthritis.		604305	24688	2	2005	Most Kuwaiti Arab patients with OA-JIA who carried a DQ or DP susceptibility allele also had an accompanying DRB1*03 or *8 allele.	Control healthy controls;Case Kuwaiti children with oligoarticular juvenile idiopathic arthritis										
126145		nephropathy in other diseases	RENAL	REN	Glomerulonephritis|Lupus Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Marchini, M.  et al. 2003	12651073				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Apr;64(4):462-8	HLA class II antigens associated with lupus nephritis in Italian SLE patients.		604305	24689	2	2003	In the Italian population HLA-DQA and HLA-DR alleles interact in conferring susceptibility to or protection against lupus nephritis, the diffuse proliferative glomerulonephritis (i.e., the most severe form of nephritis) is associated with the HLA-DR15 bearing haplotypes.	Cohort 244 patients fulfilling the American Rheumatism Association criteria for systemic lupus erythematosus (SLE) Italy 										
126140		lung cancer; Lambert-Eaton myasthenic syndrome	CANCER	CAN	Carcinoma, Small Cell|Lambert-Eaton Myasthenic Syndrome|Lung Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Wirtz, P. W.  et al. 2005	15652424				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain|Netherlands	CDC GDPinfo	3119	Hs.409934			Journal of neuroimmunology. 2005 Feb;159(2-Jan):230-7	HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome		604305	24684	2	2005	We propose that two distinct immunopathogenetic routes can lead to one clinically and serologically indistinguishable autoimmune myasthenic syndrome. HLA-DR3-B8 is strongly associated with LEMS in nontumor patients only. In other LEMS patients, SCLC apparently provides a powerful autoimmunogenic stimulus that overrides HLA restrictions in breaking tolerance to calcium channels. Moreover, negativity for HLA-B8 combined with smoking behavior points more strongly to an underlying SCLC and predicts a worse prognosis in SCLC-LEMS patients.	Control:controls;Case:48/29 British (n=48) and Dutch (n=29) Caucasian Lambert-Eaton myasthenic syndrome patients	smoking (tobacco)									
126142		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Mbanya, J. C.  et al. 2001	11532022				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Cameroon	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2001 Aug;28(4):459-62	HLA-DRB1, -DQA1, -DQB1 and DPB1 susceptibility alleles in Cameroonian type 1 diabetes patients and controls.		604305	24686	2	2001	the data in Cameroonian diabetes patients suggest the existence of HLA class II predisposing and specific protective markers, but do not support previous reports of a primary association between HLA-DP polymorphism and development of type I diabetes.	Case:10 unrelated C-peptide negative patients with type 1:diabetes:Cameroon;Control:90 controls from a homogeneous population of rural:Cameroon										
126137		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		De la Concha, E. G.  et al. 2002	12370403				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of immunology (Baltimore, Md :  1950). 2002 Oct;169(8):4637-43	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes.		604305	24681	2	2002	Our results show how, in complex diseases, individuals may be affected for different genetic reasons and a single linkage signal to a region of a chromosome may actually be the result of disease-predisposing alleles in different linked genes in different pedigrees.	Case:182 IgA deficiency patients (and parents and siblings of 100 of these patients);Control:343:controls										
126138		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lopez-Vazquez, A.  et al. 2002	11839711				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Gut. 2002 Mar;50(3):336-40	MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.		604305	24682	2	2002	 Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.	Control:116 healthy controls;Case:133 Spanish celiac patients										
126139		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gonzalez, S.  et al. 2004	15089901				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The American journal of gastroenterology. 2004 Apr;99(4):676-80	Association of MHC class I related gene B (MICB) to celiac disease.		604305	24683	2	2004	 The expression of MIC genes on enterocytes under stressful conditions and their function as ligands of intraepithelial gammadelta and CD8 T cells, together with the data presented here suggest a potential role of MIC genes in the pathogenesis of CD.	Control:116:controls;Case:133/28 celiac disease patients (n=133) and an additional DQ2-negative patients (n=28)										
126134		atherothrombosis	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DQB1	32735641	32742374		Schallmoser, K.  et al. 2005	15735807				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Thrombosis and haemostasis. 2005 Mar;93(3):544-8	The Fc gammaRIIa polymorphism R/H131, autoantibodies against the platelet receptors GPIb alpha and Fc gammaRIIa and a risk for thromboembolism in lupus anticoagulant patients.		604305	24678	2	2005	There was no correlation between the presence of anti-FcgammaRIIa or anti-GPIbalpha autoantibodies and the FcgammaRIIa -R/H131 polymorphism, nor the incidence of TE, nor HLA class II alleles.	Control:27 patients with lupus anticoagulant without thromboembolic disease;Case:46 patients with lupus anticoagulant and thromboembolic disease										
126135		autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hunt, P. J.  et al. 2001	11678832				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDPinfo	3119	Hs.409934			Clinical endocrinology. 2001 Oct;55(4):491-9	Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease.		604305	24679	2	2001	 These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. AIH differs from GD, being less influenced by the MHC region.	Case:215 patients with autoimmune thyroid disease (GD 135, AIH 77);Control:267 control subjects not otherwise specified in:abstract										
126131		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Ongagna, J. C.  et al. 2002	11900275				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		France	CDC GDPinfo	3119	Hs.409934			International journal of experimental diabetes research. 2002 ;3(1):9-Jan	Markers for risk of type 1 diabetes in relatives of Alsacian patients with type 1 diabetes.		604305	24675	2	2002	 The CTLA-4 49 Ala allele confers an increased risk of type 1 diabetes, independent of age and HLA-DQ genetic markers.	Case:62 type 1 diabetics;Control:84 nondiabetic control subjects										
126132		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cosentino, A.  et al. 2002	12021137				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:337-40	CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults.		604305	24676	2	2002	The results of our study show that LADA is positively associated with the CTLA-4 A/G genotype, similarly to T1DM, thus providing further supporting evidence of the autoimmune origin of this form of diabetes mellitus of the adult.	Case:80 latent autoimmune diabetes patients;Control:85 healthy subjects										
126133		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hauache, O. M.  et al. 2005	16276008				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Disease markers. 2005 ;21(3):139-45	Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes.		604305	24677	2	2005												
126128		leukemia, chronic lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Chronic	6	6p21.3	HLA-DQB1	32735641	32742374		Machulla, H. K.  et al. 2001	11291046				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Germany	CDC GDPinfo	3119	Hs.409934			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):203-7	Association of chronic lymphocytic leukemia with specific alleles of the HLA-DR4:DR53:DQ8 haplotypein German patients		604305	24672	2	2001	Our results suggest that factors within or close to the human MHC class II region confer susceptibility to CLL.	Case:101 CLL patients:Germany;Control:157 healthy controls:Germany										
126129		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Moraes, M. E.  et al. 2004	15194283				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Brazilian		CDC GDPinfo	3119	Hs.409934			Transplantation proceedings. 2004 May;36(4):823-4	Strong linkage disequilibrium between HLA-B*3913 and DRB1*0807 in Brazilians.		604305	24673	2	2004	Although numbers are small to predict which ethnic groups of the Brazilian population display this haplotype prevalently, it is possible to speculate that these data may have clinical application, such as in the selection of unrelated donors for bone marrow transplantation.	Cohort 2,560 healthy unrelated randomly selected individuals southeastern region of Brazil 										
126130		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Urcelay, E.  et al. 2005	15842729				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish		CDC GDPinfo	3119	Hs.409934			BMC genomics [electronic resource]. 2005 Apr;6(1):56	Type 1 diabetes in the Spanish population:additional factors to class II HLA-DR3 and -DR4.		604305	24674	2	2005	 Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype.	Case:302 type 1 diabetic patients;Control:529 ethnically matched controls										
126125		diabetes, type 2; diabetes, type 1	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Crespi, C.  et al. 2002	12472657				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Majorcan		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Oct;60(4):282-91	HLA polymorphism in a Majorcan population of Jewish descent: comparison with Majorca, Minorca, Ibiza(Balearic Islands) and other Jewish communities.		604305	24669	2	2002	The genetic diversity of the populations from Majorca and Minorca were similar and more related to the mainland Spanish population.	Cohort 103/589 random, healthy, unrelated individuals belonging to the ancient Majorcan Jewish community (n=103), and individuals from the Balearic population selected because of their typical Balearic - Majorca, Minorca or Ibiza - lineages (n=589) 										
126126		uveitis	IMMUNE	IMM	Eye Infections, Viral|HTLV-I Infections|Uveitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kaminagayoshi, T.  et al. 2005	16019679				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Ocular immunology and inflammation. 2005 Apr-Jun;13(3-Feb):199-204	Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis.		604305	24670	2	2005	 The results suggest that HLA class I and class II genes do not contribute to susceptibility to HAU.											
126127		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Moxley, G.  et al. 2001	11881821				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian	United States	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2001 Oct;28(5):539-43	HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians.		604305	24671	2	2001	Thus, neither HLA DMA nor DMB was associated with RA in this population, and not all shared-epitope-bearing haplotypes had the same DMB allele distribution.	Control:263 Caucasian control subjects;Case:288 Caucasian subjects with rheumatoid arthritis:USA										
126122		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Translocation, Genetic	6	6p21.3	HLA-DQB1	32735641	32742374		Mundhada, S.  et al. 2004	15202948				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			BMC cancer [electronic resource]. 2004 Jun;4:25	Association of HLA Class I and Class II genes with bcr-abl transcripts in leukemia patients with t(9;22) (q34;q11)		604305	24666	2	2004	 The negative associations of a particular bcr-abl transcript with specific HLA alleles suggests that these alleles play a critical role in presenting peptides derived from the chimeric proteins and eliciting a successful T-cell cytotoxic response. Knowledge of differential associations between HLA phenotypes and bcr-abl fusion transcript types would help in developing better strategies for immunization with the bcr-abl peptides against t(9;22) (q34;q11)-positive leukemia.	Cohort 189 patients of mixed ethnicity with chronic myelogenous leukemia and acute lymphocytic leukemia who were being considered for bone marrow transplantation 										
126124		neuropathy, small fiber	NEUROLOGICAL	NEUR	Autonomic Nervous System Diseases|Sarcoidosis|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Voorter, C. E.  et al. 2005	16053028				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Jun;22(2):129-32	Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.		604305	24668	2	2005	 This association might be correlated with a severe course of the disease.											
126119		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lombardi, M. L.  et al. 2001	11423176				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Jul;62(7):701-4	Crohn disease: susceptibility and diseaseheterogeneity revealed by HLA genotyping.		604305	24663	2	2001	A positive association with the rare haplotype DRB1*07, DQB1*0303, and a protective effect of the haplotype DRB1*03, DQB1*0201, were found in Crohn's disease patients. Variability of the HLA alleles frequency in CD subgroups was observed, supporting the hypothesis of a genetic heterogeneity of the disease and suggesting that HLA alleles distribution in selected groups may allow to identify patients with probably different prognosis or associated complications.	Cohort 107 patients with Crohn's disease 										
126120		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Zivadinov, M. D. = PhD R et al. 2003	14504973				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of neurology. 2003 Sep;250(9):1099-106	HLA genotypes and disease severity assessed by magnetic resonance imaging findings in patients with multiple sclerosis.		604305	24664	2	2003	The study findings suggest that some HLA alleles may predict the destructive pathological processes visible on MRI. Since the size of the sample studied is relatively small, further studies are needed to draw any firm conclusion about genotype/phenotype correlation in patients with MS.	Case:100 patients with multiple sclerosis;Control:122 age, sex-, ethnic- and residence-matched controls										
126116		myositis, sporadic inclusion-body	OTHER	OTH	Myositis, Inclusion Body	6	6p21.3	HLA-DQB1	32735641	32742374		Lampe, J. B.  et al. 2003	14648147				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of neurology. 2003 Nov;250(11):1313-7	Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.		604305	24660	2	2003	After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal	Control German controls;Case:47 patients suffering from sporadic inclusion body:myositis										
126117	N	nut allergy	IMMUNE	IMM	Nut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hand, S.  et al. 2004	15144462				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and experimental allergy. 2004 May;34(5):720-4	Human leucocyte antigen polymorphisms in nut-allergic patients in South Wales.		604305	24661	2	2004	 At HLA '2-digit resolution' and with undifferentiated patients with nut allergy, there are no major disturbances in the frequency of HLA-A, B, DRB1 or DQB1 types. However, the difference in frequency of HLA-DRB1(*)11 between the nut allergy patients and the atopic controls merits further investigation as this may represent an important phenotypic relationship.	Control:82/1798 atopic non-nut-allergic subjects (n=82) and random blood donors (n=1,798);Case:84 patients presenting at the allergy clinic with symptoms of nut allergy										
126118		diabetes, type 2; alveolitis, extrinsic allergic	METABOLIC	MET		6	6p21.3	HLA-DQB1	32735641	32742374		Monte, S. J.  et al. 2004	15666025				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian		CDC GDPinfo	3119	Hs.409934			Rev Assoc Med Bras. 2004 Oct-Dec;50(4):422-6	[HLA polymorphism in a racially admixed sample of the population of Teresina, Piau????]		604305	24662	2	2004	 The genetic composition of Teresina's racially admixed is predominantly bi-hybrid of genes originated from Blacks and Caucasians with little contribution from Amerindian genes.	Cohort 97 unrelated healthy racially admixed people of Teresina Teresina, Piaui 										
126113		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Rodriguez-Carreon, A. A.  et al. 2005	15725578				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican		CDC GDPinfo	3119	Hs.409934			Journal of autoimmunity. 2005 Feb;24(1):63-8	Tumor necrosis factor-alpha -308 promoter polymorphism contributes independently to HLA alleles in the severity of rheumatoid arthritis in Mexicans.		604305	22045	2	2005	The data demonstrate that -308 T2 (A) allele is associated with susceptibility to develop severe RA in Mexicans. This association could be independent from HLA-DR alleles and might be used as a prognostic marker for severe RA.	Case:137 Mexican rheumatoid arthritis patients;Control:169 healthy controls										
126114		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing	6	6p21.3	HLA-DQB1	32735641	32742374		Neri, T. M.  et al. 2003	14567462				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Digestive and liver disease. 2003 Aug;35(8):571-6	Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.		604305	24658	2	2003	 These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.	Control:183 normal controls of the same population;Case:64 primary sclerosing cholangitis patients Northern Italy										
126115		HIV; cytomegalovirus retinitis	INFECTION	INF	Cytomegalovirus Retinitis|Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		De Lourdes Veronese Rodrigues, M.  et al. 2003	14510801				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Acta ophthalmologica Scandinavica. 2003 Oct;81(5):514-6	Frequency of HLA class 1 and 2 alleles in Brazilian patients with AIDS and cytomegalovirus retinitis.		604305	24659	2	2003	 There was no association between HLA molecules/alleles and CMV-R in Brazilian patients with AIDS. However, the results support the role of the HLA system in the susceptibility to developing AIDS.	Case Brazilian patients with AIDS and cytomegalovirus:retinitis;Control:controls										
126110		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Cinek, O.  et al. 2003	12639765				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Czech	Czech Republic	CDC GDPinfo	3119	Hs.409934			Diabetes research and clinical practice. 2003 Apr;60(1):49-56	NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.		604305	22042	2	2003	Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.	Case:285 Czech children with type 1 diabetes mellitus;Control:289 non-diabetic control children										
126111		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lopez-Vazquez, A.  et al. 2002	11862400				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2002 Feb;53(11-Oct):989-91	MICA-A5.1 allele is associated with atypical forms of celiac disease in HLA-DQ2-negative patients.		604305	22043	2	2002	The presence of MICA-A5.1 in atypical CD DQ2-negative patients may indicate a possible role of this allele in the development of CD.	Case:38 consecutive patients with celiac disease (from a group of 316 consecutive CD patients);Control:91 healthy blood donors										
126112		HIV; cytomegalovirus retinitis	INFECTION	INF	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gupta, M.  et al. 2004	15699508				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Swedish	Sweden	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2004 Dec;1037:138-44	Frequency of MICA in all babies in southeast Sweden (ABIS) positive for high-risk HLA-DQ associated with type 1 diabetes.		604305	22044	2	2004	The results from genetic typing in this study would be useful, in conjunction with results from autoantibody analysis that are prospectively being followed-up in all the babies, to develop an approach for identifying children at risk for developing T1DM. Inclusion of MICA typing in addition to HLA could be useful for screening of genetic markers associated with T1DM.	Cohort 2,821 newborns southeast Sweden 										
126107		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Bertolaccini, M. L.  et al. 2001	11246532				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Thrombosis and haemostasis. 2001 Feb;85(2):198-203	Plasma tumor necrosis factor alpha levels and the -238*A promoter polymorphism in patients with antiphospholipid syndrome.		604305	22039	2	2001	 Raised plasma TNFalpha levels were found in patients with APS. As a prothrombotic and proinflammatory cytokine, TNFalpha may be involved in the development of clinical features of APS. The lack of correlation between the TNFA-238 polymorphism and plasma levels associated with disease suggests that the TNF genetic marker may only indirectly relate to protein levels by virtue of allelic association with a functional marker which may reside in the HLA class II region.	Case:83 Caucasoid patients with antiphospholipid syndrome;Control:95 ethnically matched healthy controls										
126109	Y	infertility, tubal factor	REPRODUCTION	REP	Chlamydia Infections|Fallopian Tube Diseases|Infertility, Female	6	6p21.3	HLA-DQB1	32735641	32742374		Kinnunen, A. H.  et al. 2002	12151439				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human reproduction (Oxford, England). 2002 Aug;17(8):2073-8	HLA DQ alleles and interleukin-10 polymorphism associated with Chlamydia trachomatis-related tubal factor infertility: a case-control study.		604305	22041	2	2002	 Our results reveal an association of a cellular immune response to CHSP60, HLA class II alleles and IL-10 promoter genotypes in patients with chlamydial TFI.	Case:52 tubal factor infertility cases;Control:61:controls	Chlamydia trachomatis									
126104		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gambelunghe, G.  et al. 2004	15522921				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rheumatology (Oxford, England). 2005 Mar;44(3):287-92	Contribution of MHC class I chain-related A (MICA) gene polymorphism to genetic susceptibility for systemic lupus erythematosus.		604305	22036	2	2004	 Our study provides the first demonstration of the independent association of the MICA gene polymorphism with genetic risk of SLE.	Control:158 healthy controls;Case:48 Italian systemic lupus erythematosus patients										
126105		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Cesari, M.  et al. 2004	15336779				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Aug;65(8):783-93	Is TAP2*0102 allele involved in insulin-dependent diabetes mellitus (type 1) protection?		604305	22037	2	2004	In contrast with other alleles, and despite a HRR value close to 1, we show that TAP2*0102 allele contributes significantly to a drastic reduction of the diabetogenic effect of DQB1*0201-DQA1*0301.1-DRB*0701 haplotype. Indeed, this haplotype, which is usually preferentially transmitted to affected children, is dominantly transmitted to healthy children when it is associated with TAP2*0102. Therefore, this allele seems to contribute to genetic protection to IDDM.	Cohort 70 patients with insulin-dependent diabetes mellitus (IDDM) 										
126101		cirrhosis, primary biliary	OTHER	OTH	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Donaldson, P.  et al. 2001	11171832				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Gut. 2001 Mar;48(3):397-402	HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with diseaseprogression and disease susceptibility.		604305	22033	2	2001	 These data indicate a complex relationship between immunoregulatory genes and PBC. While the IL-1 genes are markers of both disease susceptibility and progression, HLA genes appear to be principally associated with disease progression.	Cohort 164 well characterised chirrhosis patients 										
126102		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Nikitina-Zake, L.  et al. 2004	15699512				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Latvia	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		604305	22034	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes										
126103		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Airoldi, A.  et al. 2004	15548263				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European		CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		604305	22035	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
126098		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Aguilera, E.  et al. 2005	15660729				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetic medicine. 2005 Feb;22(2):137-43	Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.		604305	22030	2	2005	In a non-paediatric population with newly diagnosed T1D, the absence of islet antibodies does not imply clinical or metabolic differences when compared with those cases with islet antibodies. Despite a similar HLA-DR/DQ typing, the presence of protective alleles and molecular properties in a higher proportion in the Ab neg group suggests that these factors could modulate the presence or absence of islet antibodies. Variants in HNF-1alpha and HNF-4alpha are unlikely to be major contributors to the pathogenesis of diabetes in antibody-negative T1D.	Control:20 diabetic patients without pancreatic autoantibodies;Case:20 diabetic patients with pancreatic autoantibodies										
126100		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Parks, C. G.  et al. 2004	15219382				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Southeastern United States	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		604305	22032	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries										
126095		HIV; sclerosis, systemic	INFECTION	INF	Sjogren's Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Nakken, B.  et al. 2001	11555411				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Norway	CDC GDPinfo	3119	Hs.409934			Scandinavian journal of immunology. 2001 Oct;54(4):428-33	Associations of MHC class II alleles in Norwegian primary Sjogren's syndrome patients: implicationsfor development of autoantibodies to the Ro52 autoantigen.		604305	22027	2	2001	This study shows that the production of anti-Ro52 autoantibodies in pSS is associated with the DRB1*0301, DRB3*0101, DQA1*0501 and DQB1*0201 alleles which are in strong linkage disequilibrium.	Case a group of primary sjogren's syndrome patients:Norway;Control a group of healthy controls										
126096		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Zabay Becerril, J. M.  et al. 2004	14752708				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Revista de neurologia. 2004 Jan;38(2):118-22	[The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands:the influence exerted by sex]		604305	22028	2	2004	 The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.	Control:107 controls from a similar ethnic origin;Case:43 individuals with clinically defined MS Balearic Islands, Spain										
126097		jaundice	METABOLIC	MET	Jaundice	6	6p21.3	HLA-DQB1	32735641	32742374		O'Donohue, J  et al. 2000	11034591				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Gut. 2000 Nov;47(5):717-20	Co-amoxiclav jaundice: clinical and histologicalfeatures and HLA class II association.		604305	22029	2	2000	 Co-amoxiclav associated hepatotoxicity may have a genetic basis and be delayed, severe, and prolonged, although complete recovery is usual.	Cohort 22 Jaundice cases after co-amoxiclav use west of Scotland 1991-1997 	co-amoxiclav									
126092		hepatitis type 1, autoimmune (AIH-1)	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Goldberg, A. C.  et al. 2001	11182227				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Feb;62(2):165-9	Analysis of HLA haplotypes in autoimmune hepatitis type 1: identifying the major susceptibility locus.		604305	22024	2	2001	We propose that peptide presentation leading to pathogenesis of AIH-1 may be quite stringent, but will also be affected by other strong genetic or environmental susceptibility factors, which would explain the various HLA molecules associated to the disease in the different populations.	Control:22:controls;Case:39 patients with autoimmune hepatitis type I										
126093		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Stephens, H. A.  et al. 2000	11082517				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai		CDC GDPinfo	3119	Hs.409934			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.		604305	22025	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
126094		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Galeazzi, M.  et al. 2002	11997714				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.		604305	22026	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
126089		bee venom allergy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	HLA-DQB1	32735641	32742374		Sanchez-Velasco, P.  et al. 2005	16112029				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Jul;66(7):818-25	Sensitivity to bee venom antigen phospholipase A2:association with specific HLA class I and class II alleles and haplotypes in beekeepers and allergic patients.		604305	22021	2	2005												
126090		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Stevens, A. M.  et al. 2005	16142706				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Arthritis and rheumatism. 2005 Sep;52(9):2768-73	Maternal HLA class II compatibility in men with systemic lupus erythematosus.		604305	22022	2	2005	 We observed increased bidirectional HLA class II compatibility of male SLE patients and their mothers compared with healthy men and their mothers. This observation implies that maternal microchimerism could sometimes be involved in SLE and therefore merits further investigation.											
126091		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374			16390391				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Pediatric diabetes. 2005 Dec;6(4):221-9	Slowly progressing form of type 1 diabetes mellitus in children: genetic analysis compared with otherforms of diabetes mellitus in Japanese children		604305	22023	2	2005	 HLA phenotypes and genotypes in patients with IDDMS were different from those in NIDDM and control subjects and were closer to those of IDDMA. Together with a low prevalence of HLA-A24, the genetic features are similar to those of SPIDDM and latent autoimmune diabetes in adults (LADA) in adults. In our series, the clinical features such as lack of obesity and lack of responsiveness to oral hypoglycemic agents were most different from those of adults' onset.											
126086	Y	allergy	IMMUNE	IMM	Cough|Respiratory Hypersensitivity|Agricultural Workers' Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Suzuki, K.  et al. 2005	15853900				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 May;65(5):459-66	HLA class II DPB1, DQA1, DQB1, and DRB1 genotypic associations with occupational allergic cough to Bunashimeji mushroom.		604305	22018	2	2005	The HLA-DRB1*0803 allele alone, the DRB1*0803, DQA1*0103, DQB1*0601 haplotype, or both were negatively associated with allergy to Bunashimeji, and these alleles might be involved in the prevention of Bunashimeji mushroom-specific respiratory allergy.	Cohort workers in a Bunashimeji mushroom (Hypsizigus marmoreus) farm 										
126087		ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Monos, D. S.  et al. 2005	15935893				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 May;66(5):554-62	Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancer.		604305	22019	2	2005	Therefore, it appears that the presence of DQalpha susceptibility elements overrides the protective effect of the DRbetaD(70)E(71) epitope and suggests an interactive relationship between DRbeta and DQalpha epitopes that may be of importance for disease susceptibility. Because positions DRbeta 70,71 and DQalpha 52 have been implicated in immunologic diseases, it is likely that besides being critical for T-cell recognition, they may also play a role in T-cell development and acquisition of the T-cell repertoire.	Case:47 patients with epithelial ovarian cancer;Control:67 healthy Caucasian women										
126088		pregnancy loss, recurrent	REPRODUCTION	REP	Pregnancy Complications|Abortion, Habitual|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hviid, T. V.  et al. 2005	15993714				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Jun;66(6):688-99	Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease.		604305	22020	2	2005												
126083	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited	6	6p21.3	HLA-DRB1	32593131	32665559		Loubiere, L. S.  et al. 2004	15572392	HLA-DRB1*11			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2005 Mar;44(3):318-22	HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women.		604305	22015	2	2004	 An increase of DRB1*11 in SSc is consistent with other reports. Although present in both diffuse and limited SSc disease subsets, the increase was predominantly due to over-representation of DRB1*1104 in women with diffuse SSc. Women with limited SSc had a preponderance of DRB1*1101, the most common allele in healthy women. DRB1*1104 and DRB1*1101 differ by a single amino acid at position 86, where the former has valine and the latter glycine.	Case:102 women with sytemic sclerosis;Control:533 healthy women										
126084		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Zung, A.  et al. 2004	15603874				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish	Ethiopia|Israel	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Dec;65(12):1463-8	Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics andcontribution of new environment.		604305	22016	2	2004	We concluded that ongoing exposure of genetically predisposed immigrants from Ethiopia to diabetogenic environmental factors eventually leads to a high incidence of overt diabetes in this ethnic group.	Control:119 unrelated controls;Case:33 Ethiopian Jews living in Israel with type 1:diabetes:Israel										
126080	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Ayed, K.  et al. 2004	15310011				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Tunisian	Tunisia	CDC GDPinfo	3119	Hs.409934			Annals of Saudi medicine. 2004 Jan-Feb;24(1):31-5	The involvement of HLA -DRB1*, DQA1*, DQB1* and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians.		604305	22012	2	2004	 The MHC class II alleles (DRB1, DQA1, DQB1) and C4 null associations noted in other ethnic groups are also found in Tunisians, suggesting shared susceptibility factors across ethnic lines in predisposition to SLE. In contrast to other ethnic groups, MHC class II alleles are not associated with the presence of specific autoantibodies in Tunisian SLE patients.	Control:100 matched controls;Case:62 Tunisian systemic lupus erythematosus patients										
126081		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Laivoranta-Nyman, S.  et al. 2004	15479890				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish	Finland	CDC GDPinfo	3119	Hs.409934			Annals of the rheumatic diseases. 2004 Nov;63(11):1406-12	HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis.		604305	22013	2	2004	 When assessing the influence of HLA genes on the susceptibility to rheumatoid arthritis, not only should the HLA-DR or -DQ alleles or haplotypes be unravelled but also the genotype. The effect of HLA class II region genes is more complicated than any of the existing hypotheses can explain.	Control:1,244 artificial family based control haplotypes;Case:322 Finnish patients with rheumatoid arthritis										
126077		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Cinek, O.  et al. 2001	15016191				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Czech		CDC GDPinfo	3119	Hs.409934			Pediatric diabetes. 2001 Sep;2(3):98-102	HLA class II genetic association of type 1 diabetes mellitus in Czech children.		604305	22009	2	2001	Since none of the remaining DRB1*04 subtypes was associated with type 1 DM, our study may present another piece of evidence that the DRB1*0401 and DRB1*0404 alleles do not modify type 1 diabetes risk generally in European populations.	Case:261 Czech children with type 1 diabetes;Control:289 non-diabetic control children										
126078		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2004	15049049				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Hungary	CDC GDPinfo	3119	Hs.409934			Orvosi hetilap. 2004 Feb;145(7):337-42	[In Process Citation]		604305	22010	2	2004	 Using HLA DRB1-DQA1-DQB1 markers predictive genetic screening for type 1 diabetes is feasible in the Hungarian population with high diagnostic sensitivity and specificity. At present, such a screening for individuals at risk for type 1 diabetes in the general population is recommended only as part of prospective studies on the natural history or prevention of disease. To increase the positive predictive value of the model, pancreas beta-cell autoantibodies need to be measured and followed in the high-risk cohort.	Case:149 consecutively diagnosed children with type 1:diabetes;Control:177 randomly selected healthy schoolchildren										
126079		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Boon, M.  et al. 2004	15300424				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Netherlands	CDC GDPinfo	3119	Hs.409934			Human genetics. 2004 Sep;115(4):280-4	Inheritance mode of multiple sclerosis: the effectof HLA class II alleles is stronger than additive		604305	22011	2	2004	This susceptibility locus for MS seems to follow an intermediate mode of inheritance. Fitting additive, multiplicative and third power risk models to the data, the effect appears to be significantly stronger than additive.	Cohort 124 multiple sclerosis patients with ancestry within the northeastern part of the Netherlands 										
126074		H. pylori infection; Helicobacter pylori infection	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374			14964841				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian		CDC GDPinfo	3119	Hs.409934			Genetika. 2003 Dec;39(12):1710-8	[In Process Citation]		604305	22006	2	2003	Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.	Cohort 31 Aleuts of the Commanders whose ancestors inhabited the Commander Islands for many thousand years Alaska 										
126075	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Shinomiya, N.  et al. 2004	15003812				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			Clinical immunology (Orlando, Fla). 2004 Feb;110(2):154-8	A variant of childhood-onset myasthenia gravis: HLAtyping and clinical characteristics in Japan		604305	22007	2	2004	These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303.	Control healthy controls;Case:87 Japanese patients with childhood-onset myasthenia:gravis:Japan										
126076		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Uinuk-Ool, T. S.  et al. 2004	15009181				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2004 Feb;31(1):43-51	Variation of HLA class II genes in the Nganasan and Ket, two aboriginal Siberian populations		604305	22008	2	2004	The distribution patterns and comprehensive phylogenic analysis based on the haplotype frequencies of 17 Siberian populations suggest that the founders of both the Ket and the Nganasan came from Palaeolithic populations in the Altai-Sayan Upland.	Cohort individuals from the Nganasan and Ket aboriginal Siberian populations northern Siberia 										
126071	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Jiang, Y. G.  et al. 2003	14562382				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			World journal of gastroenterology. 2003 Oct;9(10):2221-5	Association between HLA class II gene and susceptibility or resistance to chronic hepatitis B.		604305	22003	2	2003	 HLA-DRB1*0301, HLA-DQA1*0501 and HLA-DQB1*0301 are closely related with susceptibility to chronic hepatitis B, and HLA-DRB1*1101/1104 and HLA-DQA1*0301 are closely related with resistance to chronic hepatitis B. These findings suggest that host HLA class II gene is an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:54/30 patients with chronic (n=54) and acute (n=30) hepatitis B										
126072		hypersomnolence	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Peled, N.  et al. 2002	14592217				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish		CDC GDPinfo	3119	Hs.409934			Sleep medicine. 2002 May;3(3):267-70	DRB1*1502-DQB1*0601-DQA1*0103 and DRB1*04-DQB1*0302 in Jewish hypersomnolent patients.		604305	22004	2	2002	 This is the first report describing the haplotype DRB1*1502, DQB1*0601, DQA1*0103 in narcoleptic patients (non-cataplectic). This haplotype is close but different from the already known narcoleptic haplotype DRB1*1501, DQA1*0102, DQB1*0602. We assume that this haplotype represents a variant of non-cataplectic narcolepsy rather than association with hypersomnolence. However, in order to conclude whether this haplotype is a marker for the lack of cataplexy, or represents a variant of non-cataplectic narcolepsy, a larger group of patients should be investigated.	Cohort 20 healthy Jewish patients (age 23.9+/-6.3 years; 13 Ashkenazi, seven non-Ashkenazi) who had objective measures of hypersomnolence 										
126068		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Ellerhorst, J. A.  et al. 2003	12771724				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of urology. 2003 Jun;169(6):2084-8	Heterozygosity or homozygosity for 2 HLA class II haplotypes predict favorable outcomes for renal cell carcinoma treated with cytokine therapy		604305	22000	2	2003	 We conclude that heterozygosity or homozygosity for the class II haplotypes DRB1*0301/DQA1*0501/DQB1*0201 and DRB1*1501/DQA1*0102/DQB1*0602 is associated with durable response and survival in patients with metastatic renal cell carcinoma treated with cytokine therapy.	Cohort 80 patients with metastatic renal cell carcinoma who had received cytokine therapy 	cytokine									
126069	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Metaplasia	6	6p21.3	HLA-DQB1	32735641	32742374		Russo, A.  et al. 2003	12921878				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Nutrition (Burbank, Los Angeles County, Calif). 2003 Sep;19(9):708-15	Human Leukocyte Antigen Class II Genes and Helicobacter pylori Infection: Does GenotypeOverwhelm Environmental Exposure?		604305	22001	2	2003	 These findings suggested that H. pylori infection is not influenced by a genetic compound and confirmed the relevance of environmental exposure.	Case:68 subjects with histologically confirmed H. pylori and intestinal metaplasia;Control:70 healthy subjects without H. pylori (controls) matched for age, sex, and year of birth										
126070		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Klitz, W.  et al. 2003	12974796				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European American		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Oct;62(4):296-307	New HLA haplotype frequency reference standards:high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans.		604305	22002	2	2003	The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans.	Cohort 1,899 unrelated European American individuals 										
126065		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Karell, K.  et al. 2003	12651074				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Europe	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Apr;64(4):469-77	HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results fromthe European Genetics Cluster on Celiac Disease.		604305	21997	2	2003	These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone.	Case:1008 European celiacs										
126066		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2003	12687342				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2003 Mar;46(3):420-5	Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure?		604305	21998	2	2003	Our data suggest that the need for genetic susceptibility to develop Type 1 diabetes has decreased over time due to an increasing environmental pressure and this results in a higher disease progression rate especially in subjects with protective HLA genotypes.	Case:367 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1939-1965:Finland;Case:736 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1990-2001										
126062		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Thomson, W.  et al. 2002	12364641				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain	CDC GDPinfo	3119	Hs.409934			Rheumatology (Oxford, England). 2002 Oct;41(10):1183-9	Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients.		604305	21994	2	2002	 This study categorically demonstrates that there are multiple HLA class II associations with JIA. It has also, for the first time, defined these associations in the seven different ILAR subgroups in UK JIA cases. Although there are a number of common associations, each ILAR subgroup exhibits different patterns of HLA associations, suggesting that the ILAR classification system does define genetically distinct groups of patients.	Case:521 UK Caucasian juvenile idiopathic arthritis patients;Control:537 UK Caucasian controls										
126063		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Perez-Luque, E.  et al. 2003	12507821				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican	Mexico	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Jan;64(1):110-8	Protective effect of DRB1 locus against type 2 diabetes mellitus in Mexican Mestizos.		604305	21995	2	2003	These alleles associated with protection against type 2 diabetes, share glutamic acid at position-74 and were previously demonstrated to contribute to protection against type I diabetes.	Case:47 Mexican Mestizo type 2 diabetic patients central Mexico;Control:87/48 healthy subjects without family history of diabetes (n=87) and healthy subjects with family history:(n=48)										
126064		osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6p21.3	HLA-DQB1	32735641	32742374		Riyazi, N.  et al. 2003	12594107				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Dutch	Netherlands	CDC GDPinfo	3119	Hs.409934			Annals of the rheumatic diseases. 2003 Mar;62(3):227-30	HLA class II is associated with distal interphalangeal osteoarthritis.		604305	21996	2	2003	 The study group is a representative sample of the Dutch population. The HLA-DR2 allele was more common in patients with DIP OA. Furthermore, an inverse relation was observed between DIP OA and HLA-DR4. The results confirm findings from other investigations implicating HLA-DR2 as a risk factor in the development of DIP OA.	Cohort 166 consecutive patients referred to an "Early Arthitis Clinic" with different types of arthritis at an early age 										
126059		diabetes, type 1; blood group incompatibility	IMMUNE	IMM	Blood Group Incompatibility|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Berzina, L.  et al. 2002	12021139				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:345-8	DR3 is associated with type 1 diabetes and blood group ABO incompatibility.		604305	21991	2	2002	We conclude that  DR3 is associated with both the development of type 1 diabetes and ABO incompatibility.	Case:118 children with type 1 diabetes:Linkoping;Control:98 age- and sex-matched unrelated healthy controls										
126060		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kaur, G.  et al. 2002	12121676				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Human immunology. 2002 Aug;63(8):677-82	Pediatric celiac disease in India is associated with multiple DR3-DQ2 haplotypes.		604305	21992	2	2002	We conclude that  the high risk DR3 haplotypes that play a crucial role in the development of CD are unique in Asian Indians. Detailed analysis of these haplotypes in Indian patients with autoimmune diseases may help understand the influence of other intervening genes within the major histocompatibility complex.	Control healthy controls;Case:35 North Indian children below 15 years of age and diagnosed to have celiac disease as per the ESPGAN:criteria										
126061		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lobnig, B. M.  et al. 2002	12149602				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes & metabolism. 2002 Jun;28(3):217-21	HLA-patterns in patients with multiple sclerosis and type I diabetes mellitus: evidence for possiblemutual exclusion of both diseases		604305	21993	2	2002	 These data confirm the hypothesis of mutually exclusive HLA-patterns of T1DM and MS, and are consistent with a low rate of co-morbidity of both diseases.	Case:33 German patients with type 1 diabetes and multiple:sclerosis;Control:33 German patients with multiple sclerosis only										
126056		inflammatory myopathies	IMMUNE	IMM	Dermatomyositis|Polymyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DQB1	32735641	32742374		Horiki, T.  et al. 2002	11972875				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jan;59(1):25-30	HLA class II haplotypes associated with pulmonary interstitial lesions of polymyositis/dermatomyositis in Japanese patients		604305	21988	2	2002	These results suggest that in terms of HLA class II association, Japanese DM and PM, and PM with and without PI, belong to different clinical groups.	Control:62 healthy unrelated controls;Case:73 Japanese patients with myositis (32 polymyositis, 18 dermatomyositis, 23 overlapped subsets)										
126057		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Evseeva, I.  et al. 2002	11972877				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jan;59(1):38-43	HLA profile of three ethnic groups living in the North-Western region of Russia		604305	21989	2	2002	Genetic distances and correspondence analysis show that Pomors have a close relationship with Norwegians and Finns, whereas Nentsy and Saami are more closely related to Oriental populations.	Cohort 55/81/73 individuals from Nentsy (55), Saami (81), and Pomor (73) populations North-European part of Russia 										
126058		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Berzina, L.  et al. 2002	12021131				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Sweden	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:312-6	Newborn screening for high-risk human leukocyte antigen markers associated with insulin-dependent diabetes mellitus: the ABIS study.		604305	21990	2	2002	We conclude from our results that the high incidence of IDDM in Sweden is at least in part due to increased prevalence of high-risk HLA haplotypes compared to protective haplotypes (20% vs. 13%) in the general population.	Cohort 3756 newborns born in southeast Sweden Sweden 										
126053		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Petrone, A.  et al. 2001	11929589				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Dec;58(6):385-94	The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region).		604305	21985	2	2001	We suggest that the HLA DR/DQ haplotype/genotype frequencies observed could in part explain the low incidence of type 1 diabetes registered in Lazio	Case:134 type 1 diabetic patients:Lazio, Italy										
126054		multiple sclerosis; optic neuritis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Uinuk-Ool, T. S.  et al. 2002	11935333				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human genetics. 2002 Mar;110(3):209-26	Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies.		604305	21986	2	2002	The number of alleles per population ranged from 16 to 25, from seven to eight, and from nine to 14 for the DRB1, DQA1, and DQB1 loci, respectively. The alleles at the three loci occurred in 66 different combinations (haplotypes), most of which appeared to be of ancient origin, but some may have arisen within the Siberian populations.	Cohort eight Siberian populations (Mansi, Tuva, Todja, Tofalar, Buryat, Okhotsk Evenki, Ulchi, and Negidal) 										
126055		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	HLA-DQB1	32735641	32742374		Greco, L.  et al. 2002	11950806				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Gut. 2002 May;50(5):624-8	The first large population based twin study of coeliac disease.		604305	21987	2	2002	 This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.	Cohort 47 twin pairs 										
126050		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Smikie, M. = F et al. 2001	11895223				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian	Jamaica	CDC GDPinfo	3119	Hs.409934			Clinical endocrinology. 2001 Dec;55(6):805-8	HLA-DRB3*0101 is associated with Graves' disease in Jamaicans.		604305	21982	2	2001	 Jamaican patients with Graves' disease share the DRB3 *0101 susceptible allele and the DRB4 *01 protective allele but not the susceptible haplotype DRB1 *0301, DRB3*0101, DQA1*0501 with Caucasians.	Control:104 controls not otherwise specified in abstract;Case:106 patients with Graves' disease:Jamaica										
126051		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Price, P.  et al. 2001	11903620				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunology and cell biology. 2001 Dec;79(6):602-6	Can MHC class II genes mediate resistance to type 1 diabetes?		604305	21983	2	2001	HLA-DR15 was the most effective marker of resistance, but an effect may be evident with IKBL738*C in a larger study. Moreover, carriage of the entire haplotype was particularly rare in patients. The best explanation for this is that the critical gene lies between IKBL and HLA-DRB1, and is more closely linked to HLA-DRB1. Candidate genes at the centromeric end of the central MHC are reviewed, highlighting the need for further study.	Case type 1 diabetic patients;Control controls not specified in abstract										
126052		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases	6	6p21.3	HLA-DQB1	32735641	32742374		Jaini, R.  et al. 2002	11916167				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Human immunology. 2002 Jan;63(1):24-9	Heterogeneity of HLA-DRB1*04 and its associated haplotypes in the North Indian population.		604305	21984	2	2002	These results help to explain the observed variability in DR4 associations in autoimmune diseases in Asian Indians and provide support for scientific and historical documentation of extensive admixture in the Indian subcontinent.	Cohort healthy North Indian population India 										
126047	Y	cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Boberg, K. M.  et al. 2001	11495087				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Scandinavian journal of gastroenterology. 2001 Aug;36(8):886-90	The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.		604305	21979	2	2001	 The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development.	Cohort 265 primary sclerosing cholangitis patients from 5 European countries 										
126048		diabetes, type 1; autoimmune diabetes; diabetes, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Gambelunghe, G.  et al. 2001	11502807				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Sweden	CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3754-60	Two distinct MICA gene markers discriminate major autoimmune diabetes types.		604305	21980	2	2001	Our study provides demonstration of the existence of distinct genetic markers for childhood/young-onset type 1 diabetes mellitus and for adult-onset type 1 diabetes mellitus/latent autoimmune diabetes of the adult, namely major histocompatibility complex class I chain-related A gene 5 and major histocompatibility complex class I chain-related A gene 5.1, respectively.	Control:158 healthy subjects central Italy;Case:195 type 1 diabetic subjects central Italy;Case:80 latent autoimmune diabetic adult subjects central Italy										
126049		insulin response, first phase; insulitis	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cinek, O.  et al. 2001	11678027				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Czech		CDC GDPinfo	3119	Hs.409934			Cas Lek Cesk. 2001 Aug;140(16):492-6	[Prediction of insulin-dependent diabetes mellitus in children of first-degree relatives of diabetic patients]		604305	21981	2	2001	 We present the first IDDM prediction study in the Czech population, emphasising the utility of genetic risk investigation in the prediction scheme.	Cohort 208 non-diabetic children and adolescents, aged 10.0 +/- 5.3 (mean +/- SD), mostly siblings of diabetic children 										
126044		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Vos, K.  et al. 2001	11257148				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rheumatology (Oxford, England). 2001 Feb;40(2):133-9	Evidence for a protective role of the human leukocyte antigen class II region in early rheumatoid arthritis.		604305	21976	2	2001	 The DQ3-DR4/9 haplotypes are associated with RA. The DQ5-DR1/10 haplotypes are associated with less active disease, i.e. UA, and DERAA encoding DRB1 alleles modulate either predisposition to or the severity of RA. We propose that HLA polymorphism influences not only the initiation or perpetuation of RA but also protection against the disease.	Case:195/160 rheumatoid arthritis (n=195) and undifferenciated:arthritis (n=160) patients;Control:306 controls from the same region										
126045	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rasmussen, H. B.  et al. 2001	11424637				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Multiple sclerosis (Houndmills, Basingstoke, England). 2001 Apr;7(2):91-3	Additive effect of the HLA-DR15 haplotype on susceptibility to multiple sclerosis.		604305	21977	2	2001	Our results suggested that the effect of the DRB1*1501,DQA1*0102,DQB1*0602 haplotype on the susceptibility to MS is additive, perhaps reflecting that development of the disease is facilitated by a high density surface expression of the antigen presenting molecules encoded by this haplotype. Possible implications of our finding to future studies of the genetic background of MS is discussed.	studies three North European studies 										
126046		psychological distress	PSYCH	PSY		6	6p21.3	HLA-DQB1	32735641	32742374		Alaez, C.  et al. 2001	11477477				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican		CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2001 Jun;2(4):216-21	DQA1 and DQB1 promoter diversity and linkage disequilibrium with class II haplotypes in Mexican Mestizo population.		604305	21978	2	2001	This knowledge is relevant as a basis to evaluate functional implications and to explore the role of promoter diversity in disease expression.	Cohort 105 healthy unrelated Mexican Mestizos 										
126041		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Kwon, O. J.  et al. 2001	11165718				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish	Israel	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Jan;62(1):85-91	Immunogenetics of HLA class II in Israeli Ashkenazi Jewish, Israeli non-Ashkenazi Jewish, and in Israeli Arab IDDM patients		604305	21973	2	2001	These findings support the results obtained in other studies, which point to a genetic relationship between the Israeli and Mediterranean populations.											
126042		graft-versus-host disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Lampis, R.  et al. 2000	11169241				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2000 Dec;56(6):515-21	The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.		604305	21974	2	2000	These results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.	Cohort a large cohort of Sardinian newborns Sardinia 										
126043		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Mignot, E.  et al. 2001	11179016				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			American journal of human genetics. 2001 Mar;68(3):686-99	Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups.		604305	21975	2	2001	Together with the recent hypocretin discoveries, these findings are consistent with an immunologically mediated destruction of hypocretin-containing cells in human narcolepsy-cataplexy.	Control:1087 unspecified controls subjects;Case:420 narcoleptic subjects with cataplexy										
126039		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cinek, O.  et al. 2000	11098934				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Norway	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2000 Oct;56(4):344-9	Screening for the IDDM high-risk genotype. A rapid microtitre plate method using serum as source of DNA		604305	21971	2	2000	The prevalence of the DRB1*0401-DQA1*03-DQB1*0302/DRB1*03-DQA1*05-DQB1*0201 genotype among 1,026 Norwegian babies was 2.7% (CI	Cohort babies whose blood was drawn for routine newborn screening for phenylketonuria and hypothyreosis. Norwegian 										
126040		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Lampis, R.  et al. 2000	11115839				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Human molecular genetics. 2000 Dec;9(20):2959-65	The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases.		604305	21972	2	2000	HLA-DRB1-DQA1-DQB1 haplotypes were uniformly distributed in all regions, but at frequencies unique to Sardinia. The validity of these unrelated control HLA haplotype frequencies and our claim of homogeneity were established by demonstrating the near identity of the affected family-based control (AFBAC) HLA haplotype frequencies in 243 type 1 diabetes and 495 multiple sclerosis families from Sardinia and those of the unrelated controls. These results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs.	Control:controls;Case:243/495 type 1 diabetics (n=243) and multiple sclerosis:(n=495) families:Cohort:631 newborns from seven different regions of Sardinia:Sardinia										
126035		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Smith, J.  et al. 2005	16049290				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of clinical pathology. 2005 Aug;58(8):860-3	Association of chronic fatigue syndrome with human leucocyte antigen class II alleles.		604305	21967	2	2005	 CFS may be associated with HLA-DQA1*01, although a role for other genes in linkage disequilibrium cannot be ruled out.											
126036		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Altobelli, E.  et al. 2005	16096857				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and experimental medicine. 2005 Jul;5(2):72-9	HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study.		604305	21968	2	2005												
126037		Graves' disease; Hashimoto's thyroiditis; autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Polyendocrinopathies, Autoimmune|Hashimoto Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hashimoto, K.  et al. 2005	16254435				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Hormone research. 2005 ;64(5):253-60	Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population.		604305	21969	2	2005	 Susceptible HLA class II haplotypes of DRB1-DQA1-DQB1 for APS III differ between the Japanese and Caucasian populations. More interestingly, the susceptible HLA class II haplotypes differ among the three types of Japanese APS III and are not merely a combination of susceptibility haplotypes of each endocrine disease.											
126032		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Amirzargar, A. A.  et al. 2004	15305487				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Iranian	Iran	CDC GDPinfo	3119	Hs.409934			The international journal of tuberculosis and lung disease. 2004 Aug;8(8):1017-21	The association of HLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis.		604305	21964	2	2004	 HLA-DRB1*07 and HLA-DQA1*0101 appeared to be the predisposing alleles and HLA-DQA1*0301 and 0501 the protective alleles in our patients with TB.	Control:100 healthy individuals;Case:40 patients with smear-positive pulmonary tuberculosis										
126033		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bejrachandra, S.  et al. 2004	15565951				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai	Thailand	CDC GDPinfo	3119	Hs.409934			Asian Pacific journal of allergy and immunology. 2004 Jun-Sep;22(3-Feb):143-51	HLA class II (DRB1, DQA1 and DQB1) allele and haplotype frequencies among HIV-infection discordant Thai couples.		604305	21965	2	2004	The DRB1*1602-DQA1*0101-DQB1*0502 (4.6% vs 0.0%, p = 0.024) haplotype was found to be significantly higher frequencies in HIV seropositive individuals when compared to HIV negative controls but the DRB1*1502-DQA1*0101-DQB1*0501 (1.5% vs 8.1%, p = 0.049) haplotype was lower.	Cohort 33 Thai HIV discordant couples 										
126034	Y	cirrhosis, biliary primary	OTHER	OTH	Liver Cirrhosis, Biliary	6	6p21.3	HLA-DQB1	32735641	32742374		Mullarkey, M. E.  et al. 2005	15713222				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 Feb;65(2):199-205	Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis.		604305	21966	2	2005	Although the DRB1*08-DQA1*0401-DQB1*04 haplotype was significantly associated with PBC, consistent with other studies, this haplotype nevertheless represented only 19% (14/72) of all PBC patients and can account for only a minority of the risk of PBC.	Control:381 healthy women;Case:72 women with primary biliary cirrhosis										
126030		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2004	15250035				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European	Hungary|Finland|Greece	CDC GDPinfo	3119	Hs.409934			Diabetes. 2004 Jul-Aug;20(4):322-9	Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence.		604305	21962	2	2004	 HLA DR-DQ-based screening is a feasible tool for the identification of individuals at increased genetic risk for type 1 diabetes in populations with diverse genetic background. The risk markers should, however, be individually selected for the target population since the screening efficiency of various markers is highly dependent on the ethnic group studied.	Case:1,739/149/119 patients with childhood-onset type 1 diabetes were recruited from Finland (n = 1739), Hungary (n = 149), and Greece (n = 119):Finland, Greece, Hungary;Control:2,568/1,047/177 Consecutive newborns (from Finland, n=2568 and Greece, n=1047) or healthy schoolchildren (n = 177 from Hungary)										
126031	Y	warts	OTHER	OTH	Papillomavirus Infections|Warts|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Spelten, B.  et al. 2004	15257408				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Archives of dermatological research. 2004 Aug;296(3):105-11	Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts.		604305	21963	2	2004	These results suggest that the natural history of cutaneous HPV 2/27/57-induced common warts may be modulated by allele polymorphisms at the HLA-DQA1 and HLA-DQB1 gene loci.	Case:71 patients presenting with HPV 2/27/57-induced common warts which had persisted for at least 18 months;Control:92 individuals who had never suffered from common warts or whose warts had healed in less than 18:months										
126026		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kruse, C.  et al. 2004	15070884				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human reproduction (Oxford, England). 2004 May;19(5):1215-21	A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA-DRB103 is associated with recurrent miscarriage		604305	21958	2	2004	 The HLA-DRB1*03 allele or genes in linkage disequilibrium with it confer susceptibility to RM.	Control:202:controls;Case:354 recurrent miscarriage patients										
126027	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandez, O.  et al. 2004	15083289				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Journal of neurology. 2004 Apr;251(4):440-4	DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain		604305	21959	2	2004	 Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1*0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.	Case:149 subjects with multiple sclerosis:Malaga, Spain;Control:160 subjects without multiple sclerosis										
126028	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Jiang, Y. G.  et al. 2004	15231205				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua liu xing bing xue za zhi. 2004 Apr;25(4):337-40	[Study on the polymorphisme of human leucocyte antigen-DRB1, -DQA1 and -DQB1 alleles in patients with hepatitis B]		604305	21960	2	2004	 HLA-DRB1 * 0301, -DQA1 * 0501 and -DQB1 * 0301 were closely associated with the susceptibility to chronic hepatitis B, while HLA-DRB1 * 1101/1104 and -DQA1 * 0301 closely associated with the resistance to chronic hepatitis B. These findings suggested that host HLA class II gene was an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:52/30 patients with chronic hepatitis B (n=52) and patients with acute hepatitis B (n=30)										
126023		rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hernandez-Pacheco, G.  et al. 2003	14602216				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican	Mexico	CDC GDPinfo	3119	Hs.409934			International journal of cardiology. 2003 Nov;92(1):49-54	MHC class II alleles in Mexican patients with rheumatic heart disease.		604305	21955	2	2003	 Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients.	Case:98 Mexican Mestizo patients with rheumatic heart:disease;Control:99 healthy controls										
126024	N	retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Agardh, E.  et al. 2004	15019597				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of diabetes and its complications. 2004 Jan-Feb;18(1):32-6	HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms do not seem to be risk markers for severe retinopathy in younger Type 1 diabetic patients.		604305	21956	2	2004	Thus, in the present study on a small group with carefully characterised diabetic retinopathy phenotypes, there was no indication that HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms were associated with severe retinopathy in younger Type 1 diabetic patients.	Cohort 24 type 1 diabetic patients 										
126025		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandes, A. P.  et al. 2004	15030582				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Scandinavian journal of immunology. 2004 Mar;59(3):305-9	HLA-DQB1 Alleles May Influence the Surface Expression of DQ Molecules in Lymphomononuclear Cells of Type 1 Diabetes Mellitus Patients		604305	21957	2	2004	Although type 1 diabetes patients shared CD4/DQ or CD19/DR phenotype abnormalities, patients typed as DQB1*0201 presented additional abnormalities in terms of DQ expression and cell phenotypes bearing DQ molecules.	Case:20 patients with type 1 diabetes;Control:20 controls matched to patients for age, sex and HLA class II profile										
126020		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Alaez, C.  et al. 2002	12144622				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 May;59(5):388-96	Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico.		604305	21952	2	2002	The allele frequency (AF) of the prevalent DRB1 alleles were DRB1*0407 (48.4%), DRB1*0802 (33.9%) and DRB1*1402 (16.1%). The most frequent DQA1 and DQB1 alleles were DQA1*03011 (AF = 50.00%), DQA1*0401 (AF = 33.87%) and DQA1*0501 (AF = 16.13%); DQB1*0302 (AF = 50.00%), DQB1*0402 (33.87%) and DQB1*0301 (16.13%); which were in combination with DRB1*0407, DRB1*0802 and DRB1*1402, respectively.	Cohort 31 unrelated Seri, a Mexican Indian group Sonora (Northwest Mexico) 										
126021	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Vejbaesya, S.  et al. 2002	12358854				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai	Thailand	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2002 Oct;29(5):431-4	Associations of HLA class II alleles with pulmonary tuberculosis in Thais.		604305	21953	2	2002	Our results suggest that HLA-DQB1*0502 may be involved in the development of pulmonary tuberculosis, whereas HLA-DQA1*0601 and DQB1*0301 may be associated with protection against tuberculosis.	Control:160 normal controls;Case:82 patients with tuberculosis:Bangkok										
126022		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Donaldson, P. T.  et al. 2002	12765483				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Autoimmunity. 2002 Dec;35(8):555-64	Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis		604305	21954	2	2002	Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively.	Control:134:controls;Case:148 adult white northern European primary sclerosing cholangitis patients										
126017	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Nagore, E.  et al. 2002	12125959				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Acta dermato-venereologica. 2002 ;82(2):90-3	Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanoma.		604305	21949	2	2002	Our results indicate that HLA class II alleles may not contribute to a strong susceptibility to melanoma in the Spanish population, although further studies on larger series are needed to corroborate this.	Control:367 random healthy donors, from the same geographic:area;Case:82 Spanish patients with melanoma										
126018		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-DQB1	32735641	32742374		Grubic, Z.  et al. 2002	12137324				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Croatia	CDC GDPinfo	3119	Hs.409934			Collegium antropologicum. 2002 Jun;26(1):61-7	HLA class II haplotypic association and DQCAR microsatellite polymorphisms in Croatian patients with psoriasis.		604305	21950	2	2002	These data suggest that HLA-DRB*0701 haplotypic combinations are associated with type I but not for type II psoriasis in the Croatian population. DQCAR polymorphism is not useful genetic marker to distinguish susceptible HLA class II haplotypic association.	Control:controls;Case:78 Croatian patients with psoriasis										
126019		pemphigoid, bullous	OTHER	OTH	Pemphigoid, Bullous	6	6p21.3	HLA-DQB1	32735641	32742374		Gao, X. H.  et al. 2002	12139680				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	China	CDC GDPinfo	3119	Hs.409934			Clinical and experimental dermatology. 2002 Jun;27(4):319-21	HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China.		604305	21951	2	2002	This result is strikingly different from previous reports that DQB1*0301 is associated with BP in Caucasian patients and DRB1*1101, DQB1*0302, DRB1*04/DQA1*0301/DQB1*0302 and DRB1*1101/ DQA1*0505/DQB1*0302 with Japanese BP patients. Ethnic differences in the polymorphic composition of the HLA-DR and DQ genes may influence genetic susceptibility to BP.	Case:25 bullous pemphigoid patients northern China;Control:57 normal controls										
126014		cervical cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dehaghani, A. S.  et al. 2002	11994765				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Iranian	Iran	CDC GDPinfo	3119	Hs.409934			Pathology oncology research. 2002 ;8(1):58-61	HLA-DQBl alleles and susceptibility to cervical squamous cell carcinoma in Southern Iranian patients.		604305	21946	2	2002	Positive association of cervical carcinoma with a single allele of HLA-DQ provides evidence on the importance of HLA class II molecules and the immune response in squamous cell carcinoma of cervix.	Case:23 Iranian pateints with cervical squamous cell:carcinoma southern Iran;Control:36 healthy Iranian female controls										
126015		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandes, A. P.  et al. 2002	12021129				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:305-8	HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus.		604305	21947	2	2002	Although the Brazilian population is highly miscegenated, HLA-DRB1*301, DRB1*04, DQB1*0302, and DQB1*0201 alleles, which are associated with the development of type 1 diabetes in several Western populations, were also overrepresented in Brazilian patients. In addition to HLA-DRB1*15 and DQB1*0602 alleles, DRB1*11, DRB1*13, and DQA1*01 allele groups were associated with protection against the development of type 1 diabetes in Brazilian patients.	Case:64 Brazilian patients presenting with type 1 diabetes:mellitus:Brasil										
126011		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Sanchez-Velasco, P.  et al. 2001	11782273				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Oct;58(4):223-33	The HLA class I and class II allele frequencies studied at the DNA level in the Svanetian population (Upper Caucasus) and their relationships to Western European populations.		604305	21943	2	2001	DRB1*1101-DQA1*0501-DQB1*0301 and DRB1*1301-DQA1*0103-DQB1*0603 haplotypes were found in Svans at the highest frequency. The second most frequent three-locus haplotypes in this population were DRB1*0701-DQA1*0201-DQB1*0201 and DRB1*1301-DQA1*0103-DQB1*0602. Furthermore, the following 5-locus extended haplotypes were not	Cohort Svans Greater Caucasus in the Republic of Georgia 										
126012		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Backman, V. M.  et al. 2002	11914753				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Icelandic	Iceland|Norway	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2002 Mar;45(3):452-3	HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandicand Norwegian populations.		604305	21944	2	2002	The results on the distribution of HLA DR and DQ risk alleles, haplotypes and genotypes in Icelandic Type I diabetic patients are in line with previous findings in other Caucasian populations. We have shown that the difference between the incidene of Type 1 diabetes in Iceland and Norway connot be explained solely on the bases of major differences in distribution and frequency of the known HLA class II genes.	Case:106 Icelandic Type 1 diabetic patients:Iceland;Control:148 healthy controls										
126013		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Schwab, S. G.  et al. 2002	11920855				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			American journal of medical genetics. 2002 Apr;114(3):315-20	Investigation of linkage and association/linkage disequilibrium of HLA A-, DQA1-, DQB1-, and DRB1-alleles in 69 sib-pair- and 89 trio-families with schizophrenia.		604305	21945	2	2002	Our results are not in favor of a direct involvement of the HLA system in development of schizophrenia, but are compatible with the possible existence of a susceptibility gene in the MHC region at chromosome 6p 21.31.	Cohort 69 sib-pair families 										
126008		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Amirzargar, A.  et al. 2001	11704285				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Iranian		CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Nov;62(11):1234-8	Human leukocyte antigen class II allele frequencies and haplotype association in Iranian normal population.		604305	21940	2	2001	Data presented in this study suggest that the Iranian population shares some HLA components with populations resident in eastern and southern European countries.	Cohort 100 unrelated Iranian individuals Fars province, Southern Iran 										
126009		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Li, H.  et al. 2000	11776098				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Chinese medical journal. 2000 May;113(5):429-32	HLA alleles in patients with Guillain-Barre syndrome.		604305	21941	2	2000	 The increasing tendency of the two alleles suggests that there may be some relation between genetic factors and immunological factors, but a definite conclusion waits for more cases.	Case:47 Guillain-Barre syndrom patients;Control:50 normal controls										
126010	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sang, Y.  et al. 2001	11780465				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Chinese medical journal. 2001 Apr;114(4):407-9	Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes.		604305	21942	2	2001	 DRB1 * 0301, DQA1 * 0301 and DQB1 * 0201 confer susceptibility while DQA1 * 0103 and DQB1 * 0601 confer protection to type 1 diabetes. DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.	Case type 1 diabetic children North China;Control not specified in abstract										
126005		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Vargas-Alarcon, G.  et al. 2001	11476905				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican	Mexico	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Aug;62(8):814-20	Class II allele and haplotype frequencies in Mexican systemic lupus erythematosus patients: therelevance of considering homologous chromosomes in determining susceptibility		604305	21937	2	2001	The results suggest that the DRB1*0301 is the principal class II allele associated with the genetic susceptibility to SLE in Mexican patients and that the presence of a specific haplotype of the homologous chromosome in patients with DRB1*0407-DQA1*03-DQB1*0302 and DRB1*1501-DQA1*0102-DQB1*0602 haplotypes could have an additive effect on the susceptibility to the disease. Finally, the low frequency of the DRB1*0301 and DRB1*1501 alleles in the control population suggests that the genetic admixture between Mexican Indians and Caucasian populations was an event that could have increased the risk of Mexicans to develop SLE.	Case:81 systemic lupus erythematosus Mexican Mestizo:patients:Mexico;Control:99 ethnically matched controls										
126006		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Pimtanothai, N.  et al. 2001	11580849				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Jul;58(1):8-Jan	HLA-DR and -DQ polymorphism in Cameroon.		604305	21938	2	2001	In summary, this study of HLA class II polymorphism in Cameroon demonstrates the extent of diversity in this population.	Cohort 126 healthy individuals Cameroon 										
126007		measles antibody level	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Poland, G. A.  et al. 2001	11672906				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Vaccine. 2001 Nov;20(4-Mar):430-8	Identification of an association between HLA class II alleles and low antibody levels after measles immunization.		604305	21939	2	2001	These findings are crucial in designing both measles eradication by the use of vaccine, and future vaccines to be used in genetically heterozygous populations.	Cohort 242 individuals who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
126003		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Seidl, C.  et al. 2001	11334677				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 May;62(5):523-9	Protection against severe disease is conferred by DERAA-bearing HLA-DRB1 alleles among HLA-DQ3 and HLA-DQ5 positive rheumatoid arthritis patients.		604305	21935	2	2001	These results demonstrate a protective role of (70)DERAA(74)-positive DRB1 alleles against disease severity among RA patients.	Control:196 healthy controls;Case:199 rheumatoid arthritis patients:Germany										
126004		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Castro, F.  et al. 2001	11454644				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Peru	CDC GDPinfo	3119	Hs.409934			Annals of the rheumatic diseases. 2001 Aug;60(8):791-5	Tumour necrosis factor microsatellites and HLA-DRB1*, HLA-DQA1*, and HLA-DQB1* alleles in Peruvian patients with rheumatoid arthritis.		604305	21936	2	2001	 This study shows for the first time that TNF gene polymorphism is associated with susceptibility to RA in a non-white population. TNFalpha6 and HLA-DRB1*1402 independently conferred significantly increased risk in Peruvian mestizo patients.	Control:65 ethnically matched healthy controls;Case:79 patients with rheumatoid arthritis										
125999		lymphoma	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone|Genetic Predisposition to Disease|Dyspepsia	6	6p21.3	HLA-DQB1	32735641	32742374		Kawahara, Y.  et al. 2005	16234023				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical gastroenterology and hepatology. 2005 Sep;3(9):865-8	HLA-DQA1*0103-DQB1*0601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma.		604305	21931	2	2005	 DQA1*0103-DQB1*0601 haplotype-positive gastric MALT lymphoma is likely to respond to therapy by eradication of H pylori.		Helicobacter pylori									
126000		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandez, L.  et al. 2002	12074713				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Mar;59(3):219-22	Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease.		604305	21932	2	2002	Our results indicate that although there is no primary association between MICA polymorphism and CD, there is, in addition to HLA-DQ, a second susceptibility locus on the 8.1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele.											
126001		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Maciag, P. C.  et al. 2000	11097225				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1183-91	Major histocompatibility complex class II polymorphisms and risk of cervical cancer and human papillomavirus infection in Brazilian women		604305	21933	2	2000	We suggest that HLA class II polymorphisms are involved in genetic susceptibility to cervical cancer and HPV infection in a Brazilian population from an area with a high incidence of this neoplasia.	Case:161 cases of cervical cancer:Brasil;Control:257:controls	papilloma virus									
125996		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Decochez, K.  et al. 2005	15756536				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia. 2005 Apr;48(4):687-94	Combined positivity for HLA DQ2/DQ8 and IA-2 antibodies defines population at high risk of developing type 1 diabetes.		604305	21928	2	2005	These observations suggest that the HLA-DQ-inferred risk of diabetes can proceed through two distinct pathways distinguished by IA-2A status. Combined positivity for DQ2/DQ8 and IA-2A defines a more homogeneous high-risk population for prevention trials than those used so far.	Case:4,589 first-degree relatives of type 1 diabetic patients under age 40;Control:790 non-diabetic controls										
125997		celiac disease	IMMUNE	IMM	Celiac Disease|Atrophy	6	6p21.3	HLA-DQB1	32735641	32742374		Vargas Perez, M. L.  et al. 2005	15871822				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			An Pediatr (Barc). 2005 May;62(5):412-9	[Serological and genetic markers in the diagnosis and follow-up of coeliac disease.]		604305	21929	2	2005	 To avoid missed diagnoses, the diagnostic algorithm of celiac disease should include at least two serological markers (antigliadin antibodies and anti-endomysial and/or anti-transglutaminase antibodies) and IgA quantification. Genomic typing should be carried out if one or more markers are positive or if the subject belongs to any of the risk groups. The physician should decide on the advisability of intestinal biopsy on the basis of the patient's clinical and immunological history.	Cohort 590 patients from the health area of Badajoz referred to the Immunology Laboratory for screening or follow-up of celiac disease 										
125998		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Autoimmune Diseases	6	6p21.3	HLA-DQB1	32735641	32742374		Liu, W.  et al. 2004	16225776				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	CDC GDPinfo	3119	Hs.409934			Cellular & molecular immunology. 2004 Aug;1(4):311-4	Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population.		604305	21930	2	2004												
125993		celiac disease	IMMUNE	IMM	Celiac Disease|Atrophy|Diarrhea	6	6p21.3	HLA-DQB1	32735641	32742374		Johnson, T. C.  et al. 2004	15476152				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		New York City|Paris	CDC GDPinfo	3119	Hs.409934			Clinical gastroenterology and hepatology. 2004 Oct;2(10):888-94	Relationship of HLA-DQ8 and severity of celiac disease: comparison of New York and Parisiancohorts.		604305	21925	2	2004	 HLA-DQ8 alleles were increased in the New York cohort of patients with celiac disease; however, this did not account for less severe manifestations of the disease.	Cohort patients with celiac disease New York and Paris 										
125994	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Quintero, E.  et al. 2005	15691311				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Europe	CDC GDPinfo	3119	Hs.409934			Helicobacter. 2005 Feb;10(1):21-Dec	Association of Helicobacter pylori-related distal gastric cancer with the HLA class II gene DQB10602 and cagA strains in a southern European population.		604305	21926	2	2005	 Our findings suggest that in the H. pylori-infected southern European population, the cagA genotype and the HLA-DQB1(*)0602 gene confer an increased risk for distal gastric cancer.	Case:42 patients with H. pylori-associated distal gastric:cancer;Control:84 patients with H. pylori-associated benign gastroduodenal disease matched by age (+/-5 years) and gender to cases	alcohol drinking behavior family history smoking (tobacco)									
125995		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Park, Y.  et al. 2004	15699500				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2004 Dec;1037:104-9	Closer association of IA-2 humoral autoreactivity with HLA DR3/4 than DQB1*0201/*0302 in Korean T1D patients.		604305	21927	2	2004	In this low-risk population, autoantibodies to islet-cell antigens were associated with different HLA molecules. In different populations, the immune response to different beta cell autoantigens is mediated via varying HLA class II molecules from different loci. Design of the antigen-specific immunointervention trials should take into account such HLA DR and DQ association.	Cohort 121 Korean type 1 diabetic patients 										
125990		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Contreas, G.  et al. 2004	15174785				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Acta Paediatr. 2004 May;93(5):628-32	Screening of coeliac disease in north Italian children with type 1 diabetes: limited usefulnessof HLA-DQ typing.		604305	21922	2	2004	 A high prevalence of HLA-DQA1* and -DQB1* susceptibility haplotypes for CD was observed both in EMA-negative diabetics and in those with associated CD. The implementation of screening programmes of CD in a T1DM population, based on the identification of HLA susceptibility haplotypes, seems to be of limited usefulness. Serial serologic screening of diabetic patients remains the advisable strategy.	Case type 1 diabetic children with celiac disease northern Italy;Control type 1 diabetic children without celiac disease										
125991		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Van Autreve, J. E.  et al. 2004	15301863				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Africa, Northern|Europe|Belgium	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Jul;65(7):729-36	The rare HLA-DQA1*03-DQB1*02 haplotype confers susceptibility to type 1 diabetes in whites and is preferentially associated with early clinical disease onset in male subjects.		604305	21923	2	2004	These results are compatible with an effect of cis-encoded heterodimers or with previously suggested interactions of X-linked genetic factors with (DR3-)DQB1*02 haplotypes.	Control:2,223 control subjects of Caucasian descent;Case:2,238 Islet antibody-positive diabetic patients										
125992		diabetes, type 1; celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Nielsen, C.  et al. 2004	15309343				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2004 Aug;56(5):375-8	No allelic variation in genes with high gliadin homology in patients with celiac disease and type 1 diabetes.		604305	21924	2	2004	We conclude that  gut-expressed human celiac epitope homologous peptides are unlikely to represent non-HLA risk factors in the development of celiac disease in Caucasians.	Control:110 Caucasian healthy controls;Case:20/27 Caucasian celiac disease (n=20) and type 1 diabetic:(n=27) patients										
125987		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Zhang, D. M.  et al. 2004	15059369				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Mar;43(3):174-8	[Subclassification of seronegative type 1 diabetic subjects with HLA-DQ genotypes]		604305	21919	2	2004	 Autoantibody-negative diabetics, if with susceptible HLA-DQ genotypes, presented more type 1A-like features, implying possible existence of as yet unidentified immunologic abnormalities in these patients. HLA-DQ risk genotypes may reclassify seronegative type 1 diabetics. Those who are autoantibody negative but carry susceptible HLA-DQ genotypes, should not be diagnosed as type 1B diabetes.	Cohort 61 diabetics with unprovoked ketosis or ketoacidosis at presentation 										
125988		pelvic inflammatory disease	OTHER	OTH	Chlamydia Infections|Gonorrhea|Pelvic Inflammatory Disease|Endometritis|Infertility, Female|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374			15107633				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		United States	CDC GDPinfo	3119	Hs.409934			Sexually transmitted diseases. 2004 May;31(5):301-4	Associations Among Human Leukocyte Antigen (HLA) Class II DQ Variants, Bacterial Sexually Transmitted Diseases, Endometritis, and Fertility Among Women With Clinical Pelvic Inflammatory Disease		604305	21920	2	2004	 Among women with signs and symptoms of PID, carriage of the DQA *0301, DQA *0501, and DQB *0402 alleles altered the occurrence of lower genital tract infection, upper genital tract inflammation, and infertility.	Cohort 92 women with clinical signs and symptoms of mild-to-moderate PID, enrolled in the PEACH Study 										
125984	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Pena-Quintana, L.  et al. 2003	14581805				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Journal of pediatric gastroenterology and nutrition. 2003 Nov;37(5):604-8	Assessment of the DQ heterodimer test in the diagnosis of celiac disease in the Canary Islands (Spain).		604305	21916	2	2003	 The presence of the DQ2 (DQA1*0501/DQB1*02) heterodimer is strongly associated with celiac disease in the population studied by the authors. The value of this test derives from its ability to exclude disease when a negative result occurs.	Case:118 patients with celiac disease Gran Canaria (Canary Islands);Control:236:controls										
125985	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wang, M.  et al. 2004	14990915				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	CDC GDPinfo	3119	Hs.409934			Otolaryngology--head and neck surgery. 2004 Feb;130(2):192-6	Association between HLA class II locus and the susceptibility to Artemisia pollen-induced allergic rhinitis in Chinese population.		604305	21917	2	2004	HLA-DQA1 and -DQB1 genes may be involved in the development of Artemisia pollen-induced allergic rhinitis. HLA-DQA1*0201, DQB1*0602 alleles may be a protective factor and DQA1*0302 may be a susceptible factor for Artemisia pollen-induced allergic rhinitis.	Case:41 subjects with allergic rhinitis:Beijing;Control:41 healthy controls										
125986		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Weets, I.  et al. 2004	15045173				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia    2004	Seasonality in clinical onset of Type 1 diabetes in Belgian patients above the age of 10 is restricted to HLA-DQ2/DQ8-negative males, which explains the male to female excess in incidence		604305	21918	2	2004	In a subgroup of male patients diagnosed over the age of 10, the later stages of the subclinical disease process may be more driven by sex- and season-dependent external factors than in younger, female and genetically more susceptible subjects. These factors may explain the male to female excess in diabetes diagnosed in early adulthood.	Cohort 2176 islet antibody-positive diabetic patients aged 0 to 39 years diagnosed between 1989 and 2000. 1989-2000 										
125981		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Tanaka, S.  et al. 2002	12453977				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes care. 2002 Dec;25(12):2302-7	Association of HLA-DQ genotype in autoantibody-negative and rapid-onset type 1 diabetes.		604305	21913	2	2002	 Pathogenic roles of genotypic combinations of specific HLA-DQ haplotypes in a homozygous manner are suggested as causative mechanisms of aggressive beta-cell damage in a subtype of autoantibody-negative type 1 diabetes with fulminant clinical features.	Control:22 fulminant autoantibody-negative type 1 diabetes:patients;Case:78 autoantibody-positive type 1 diabetes (immune-mediated type 1 diabetes) patients										
125982		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2003	12666382				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Hungary	CDC GDPinfo	3119	Hs.409934			Orvosi hetilap. 2003 Feb;144(8):355-60	[Prevalence and predictive value of GAD65 autoantibodies and their correlation with HLA DR-DQ genotypes in children with type-1 diabetes]		604305	21914	2	2003	 GAD65 antibodies are specific disease markers for type 1 diabetes. The increased prevalence of GADA among first degree relatives of type 1 diabetes patients indicates an increased risk for development of diabetes in this population. GADA is associated with HLA DR3-DQ2 haplotype and female sex. Positive predictive value of GADA is considerably lower in the general population than in first degree relatives, consequently, for more accurate diabetes prediction the use of additional immune and genetic markers is necessary.	Case:122 childhood type 1 diabetes cases and their first degree relatives (n=164):Hungary;Control:2664 ethnically and geographically matched healthy:children										
125978	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Madhavan, R.  et al. 2002	12021150				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:403-7	HLA class I and class II association with ankylosing spondylitis in a southern Indian population.		604305	21910	2	2002	None of the HLA class II alleles were significantly associated with AS. The apparent association with DRB1*11 (P = 0.03) was lost after Yates correction.	Control:37/25/124 age- and sex-matched disease controls (37 with enterogenic reactive arthritis and 25 with undifferentiated spondyloarthropathy) and healthy:controls (n=124);Case:65 patients with primary ankylosing spondylitis										
125979		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zubillaga, P.  et al. 2002	12050583				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of pediatric gastroenterology and nutrition. 2002 May;34(5):548-54	HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease.		604305	21911	2	2002	 The genetic markers investigated may prove useful for diagnosing and managing celiac disease. With some clinical variables, correlations not previously described were found. These correlations have a moderate strength and, therefore, must be confirmed by other studies.	Cohort 133 patients with celiac disease 										
125980		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ghaderi, M.  et al. 2002	12209609				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			International journal of cancer. Journal international du cancer. 2002 Aug;100(6):698-701	Risk of invasive cervical cancer associated with polymorphic HLA DR/DQ haplotypes.		604305	21912	2	2002	A susceptibility locus in the HLA class II region is involved in a substantial fraction of the etiology of cervical cancer.	Control:120 healthy women from a population-based cohort;Case:85 cervical cancer cases from a population-based:cohort:Sweden										
125975		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Van, D.  et al. 2002	11916169				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Belgium	CDC GDPinfo	3119	Hs.409934			Human immunology. 2002 Jan;63(1):40-50	Relative and absolute HLA-DQA1-DQB1 linked risk for developing type I diabetes before 40 years of age in the Belgian population: implications for futureprevention studies.		604305	21907	2	2002	This study in a large cohort of autoantibody-positive patients shows that a DQA1-DQB1-based genotyping strategy allows the identification of a subgroup representing less than 10% of the Belgian population but harbouring the majority of future type I patients arising in childhood or early adulthood. Future prediction and prevention studies should take into account the age dependency of this HLA-DQ associated risk.	Case:1866 autoantibody-positive type I patients below age 40 years recruited by the Belgian Diabetes Registry;Control:750 control subjects										
125976		graft-versus-host disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Catassi, C.  et al. 2001	11929591				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Algeria	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Dec;58(6):402-6	The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence.		604305	21908	2	2001	We can conclude that the distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD. Other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role.											
125973		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ronningen, K. S.  et al. 2001	11724418				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia. 2001 Oct;44 Suppl 3:B51-9	Correlations between the incidence of childhood-onset Type I diabetes in Europe and HLA genotypes		604305	21905	2	2001	The results suggest that a substantial part of the transnational variation in the incidence of childhood-onset Type I diabetes in Europe is explained by variations between populations in the distribution of particular DQ genotypes which confer a high risk of Type I diabetes in the general population.	Case type 1 diabetic cases;Control general population										
125974		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Prediabetic State	6	6p21.3	HLA-DQB1	32735641	32742374		Pietropaolo, M.  et al. 2002	11845225				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Pennsylvania	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2002 Jan;45(1):66-76	Progression to insulin-requiring diabetes in seronegative prediabetic subjects: the role of twoHLA-DQ high-risk haplotypes		604305	21906	2	2002	These data provide evidence for a phenotype, which is associated with the absence of conventional islet autoantibodies at initial screening, while usually remaining seronegative, and the presence of 2 HLA-DQ high-risk haplotypes with progression to clinical Type I diabetes after a prolonged follow-up. Given the fact that in humans the highest risk-conferring locus associated and linked to the disease is the HLA cluster, and that HLA-DQ molecules play a key role in the development of autoimmune diabetes, our observations imply that as yet unidentified immunologic abnormalities could well exist in seronegative relatives at risk of developing clinical diabetes and carrying 2 HLA-DQ high-risk haplotypes.	Control:426 control subjects who did not develop insulin-requiring diabetes;Case:74 elatives of Type I diabetic patients who developed diabetes treated with insulin (prediabetics)										
125970		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DQB1	32735641	32742374		Xiao, F. L.  et al. 2005	16231148				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Archives of dermatological research. 2005 Nov;297(5):201-9	Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans.		604305	21902	2	2005												
125971		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Chuang, L.  et al. 2000	11024583				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Taiwanese	Taiwan	CDC GDPinfo	3119	Hs.409934			Diabetes research and clinical practice. 2000 Oct;50 Suppl 2:S41-7	Genetic epidemiology of type 1 diabetes mellitus in Taiwan		604305	21903	2	2000	Our studies in Taiwanese confirm a multigenetic nature for IDDM.	Case IDDM unrelated individuals and IDDM pedigrees northern Taiwan;Control normal controls northern Taiwan										
125972		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Sumnik, Z.  et al. 2000	11195230				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Czech	Czech Republic	CDC GDPinfo	3119	Hs.409934			Acta Paediatr. 2000 Dec;89(12):1426-30	HLA-DQA1*05-DQB1*0201 positivity predisposes to coeliac disease in Czech diabetic children		604305	21904	2	2000	 The high prevalence of CD (4.1%) found in Czech children with IDDM emphasizes the need for their regular screening. We suggest that this CD screening protocol may be individualized according to the DQA1*05-DQB1*0201 positivity.	Cohort 345 children with IDDM (186 boys and 159 girls, aged 0 to 18 y) 										
125967		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Vidales, M. C.  et al. 2004	15120190				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Apr;65(4):352-8	Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain.		604305	21899	2	2004	This percentage coincides with figures reported in previous studies, implying the effect of other genes in the development of CD.	Cohort 136 unrelated children diagnosed with celiac disease Guipuzcoa, Spain 										
125968	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis	6	6p21.3	HLA-DQB1	32735641	32742374		Herrera-Goepfert, R.  et al. 2004	15259342				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Mexico	CDC GDPinfo	3119	Hs.409934			Gac Med Mex. 2004 May-Jun;140(3):299-303	[Association of the HLA-DQB*0501, allele of the major histocompatibility complex with gastric cancer in Mexico]		604305	21900	2	2004	According to our results, in addition to Helicobacter pylori infection, there are immunogeneic markers of the HLA-DQ region, which are determinant in confering susceptibility for gastric cancer.	Case:20 subjects suffering from gastric cancer;Control:40 subjects harboring Helicobacter pylori-associated chronic gastritis (n=40) and healthy individuals										
125969		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Liu, W.  et al. 2005	15996167				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Annals of human genetics. 2005 Jul;69(Pt 4):382-8	HLA-DQA1, -DQB1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy in Hans of northern China.		604305	21901	2	2005												
125964		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zhang, X.  et al. 2004	15009387				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	CDC GDPinfo	3119	Hs.409934			International journal of dermatology. 2004 Mar;43(3):181-7	HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han.		604305	21896	2	2004	 HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.	Case:189 Chinese Han patients with psoriasis;Control:273 healthy controls										
125965	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Paschou, P.  et al. 2004	15055351				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Albania|Greece	CDC GDPinfo	3119	Hs.409934			Journal of pediatric endocrinology & metabolism. 2004 Feb;17(2):173-82	HLA alleles and type 1 diabetes mellitus in low disease incidence populations of Southern Europe: acomparison of Greeks and Albanians.		604305	21897	2	2004	The low incidence of DM1 in these two countries correlates with the high frequency of the protective allele DQB1*0301 and the low impact of the susceptible DQB1*0302.	Control:1,842/186 Greeks (n=1,842) and Albanians (n=186) controls;Case:130/64 Greeks (n=130) and Albanians (n=64) with type 1:diabetes										
125966		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		McCarthy, B. J.  et al. 2004	15112906				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African American	Chicago	CDC GDPinfo	3119	Hs.409934			Journal of pediatric endocrinology & metabolism. 2004 Mar;17(3):297-306	HLA-DQA1 and -DQB1 alleles in Latino and African American children with diabetes mellitus.		604305	21898	2	2004	Many of the HLA-DQ associations previously documented in non-Hispanic White populations also are found in African Americans and Latinos with DM1, although some differences exist.	Case:45/26 African American (n=45) and Latino (=26) type 2 diabetic patients from the population-based Chicago Childhood Diabetes Registry;Control:50 healthy race-matched controls										
125961	Y	diabetes, type 1	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kim, E. Y.  et al. 2003	12911285				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDPinfo	3119	Hs.409934			Autoimmunity. 2003 May;36(3):177-81	Polymorphisms of HLA class II predispose children and adolescents with type 1 diabetes mellitus to autoimmune thyroid disease.		604305	21893	2	2003	Our results suggest that HLA DQB1*0401 is a predisposing genetic marker for the development of AITD in patients with type 1 DM in Korea.	Case:69 patients with type 1 diabetes:Korea;Control:75/21 normal healthy controls (n=75) and patients with autoimmune thyroid disease										
125962	Y	thyroid autoimmunity	IMMUNE	IMM	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	6	6p21.3	HLA-DQB1	32735641	32742374		Sumnik, Z.  et al. 2003	12948297				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Poland	CDC GDPinfo	3119	Hs.409934			Journal of pediatric endocrinology & metabolism. 2003 Jul-Aug;16(6):851-8	HLA-DQ polymorphisms modify the risk of thyroid autoimmunity in children with type 1 diabetes mellitus.		604305	21894	2	2003	 HLA-DQ polymorphisms significantly modify the risk of TAI in children with DM1.	Cohort 285 children with type 1 diabetes mellitus 										
125963		respiratory papillomatosis, juvenile-onset; recurrent	INFECTION	INF	Papilloma|Respiratory Tract Neoplasms|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Gregoire, L.  et al. 2003	14623754				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African American		CDC GDPinfo	3119	Hs.409934			Archives of otolaryngology--head & neck surgery. 2003 Nov;129(11):1221-4	HLA-DQ alleles in white and African American patients with juvenile-onset recurrent respiratory papillomatosis.		604305	21895	2	2003	 HLA-DQalpha and -DQbeta1 alleles occur at different frequencies in African American and white children with RRP than controls. Specific alleles influence risk for RRP. Allele and haplotype frequencies have some influence on disease course, but were independent of human papillomavirus type.	Case:48 children treated for juvenile-onset recurrent respiratory papillomatosis;Control:80/80 African American (n=80) and Caucasian (n=80) controls seen at the hospital for other conditions	human papillomavirus									
125958	Y	Vogt-Koyanagi-Harada syndrome	IMMUNE	IMM	Uveomeningoencephalitic Syndrome|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Liu, Q.  et al. 1999	11835809				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Chinese journal of ophthalmology. 1999 May;35(3):210-5	[Association of HLA-DQA1 and DQB1 alleles with Vogt-Koyanagi-Harada syndrome in Han Chinese population]		604305	21890	2	1999	 The results suggest that DQA1 * 0301-DQB1 * 0401 and DRB1 * 15-DQA1 * 0102-DQB1 * 0602/3 be associated with the susceptibility in VKH. On the other hand, DQA1 * 0103-DQB1 * 0601 may play a role in resisting against VKH syndrome.	Case patients with Vogt-Koyanagi-Harada syndrome;Control:50 healthy controls										
125959		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gao, J.  et al. 2002	11953202				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		China	CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue za zhi. 2002 Mar;82(6):379-83	[Relationship between HLA-DQA1, -DQB1 genes polymorphism and susceptilibity to bronchial asthma among Northern Hans]		604305	21891	2	2002	 The alleles HLA-DQA1 * 0104 and HLA-DQB1 * 0201 are correlated with the susceptibility to asthma among Northern of Han nationality. HLA-DQA1 * 0104 is an independent risk factor of onset of asthma. The alleles HLA-DQA1 * 0301 and HLA-DQB10301 are correlated with resistance against asthma. HLA-DQ genes are involved in the regulation of human specific immune responses.	Case:125 Han unrelated asthmatics northern China;Control:96 Han healthy controls										
125960	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Gao, J.  et al. 2003	12890388				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	CDC GDPinfo	3119	Hs.409934			Chinese medical journal. 2003 Jul;116(7):1078-82	Association between HLA-DQA1, -DQB1 gene polymorphisms and susceptibility to asthma in northern Chinese subjects.		604305	21892	2	2003	 HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma. Asthma and atopy are multifactorial disorders, HLA-DQA1 and DQB1 genes are involved in the regulation of immune specific response to common allergen.	Case:125 unrelated asthmatic individuals;Control:96 healthy controls without asthma and atopy from the same ethnic origin	beta(2)-agonist methacholine									
125955	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DQB1	32735641	32742374		Lin, Q.  et al. 2000	11776160				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua fu chan ke za zhi. 2000 Apr;35(4):208-11	[Study on human leucocyte antigen-DQ region gene polymorphism in cases of habitual abortion with anticardiolipin antibody]		604305	21887	2	2000	 The results show an association between ACL(+) habitual abortion and HLA-DQB1 * 0303, which suggest DQB1 * 0303 may be susceptible gene to ACL(+) habitual abortion.	Case:30 cases of habitual abortion;Control:90 women with normal pregnancy history										
125956	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DQB1	32735641	32742374		Lin, Q.  et al. 2001	11783381				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua fu chan ke za zhi. 2001 May;36(5):293-5	[The study on human leucocyte antigen DQ region genes polymorphism in unexplained habitual abortion patients]		604305	21888	2	2001	 The results suggest that DQB1 * 0604,0605 allele and DQA1 * 01/DQB1 * 0604,0605 haplotype may be a susceptible gene and haplotype of unexplained habitual abortion, while DQB1 * 0501,0502 allele may be a protective factor for habitual abortion.	Case:32 cases of unexplained habitual abortion;Control:54 women with normal pregnancy history										
125957	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DQB1	32735641	32742374		Guo, X.  et al. 2001	11802952				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua jie he he hu xi za zhi. 2001 Mar;24(3):139-41	[Association between asthma and the polymorphism of HLA-DQ genes]		604305	21889	2	2001	 HLA-DQA1* 0101, DQA1 * 0601 and HLA-DQB1 * 0303, DQB1 * 0601 may be the susceptible alleles of asthma. HLA-DQB1 * 0201 allele may limit the specific IgE response to dermatophagoides.	Control:67 normal controls;Case:98 members of 32 Chinese asthma families										
125952	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Chaudhuri, S.  et al. 2000	11027344				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Proceedings of the National Academy of Sciences of the United States of America. 2000 Oct;97(21):11451-4	Genetic susceptibility to breast cancer: HLADQB*03032 and HLA DRB1*11 may represent protective alleles.		604305	21884	2	2000	HLA DQB*03032 and HLA DRB1*11 alleles may have a protective role in human breast cancer.	Case:176 Caucasian women diagnosed with early-onset breast:cancer;Control:215 ethnically matched controls										
125953		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-DQB1	32735641	32742374		Rossman, M. D.  et al. 2003	14508706				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		United States	CDC GDPinfo	3119	Hs.409934			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor forSarcoidosis in Blacks and Whites		604305	21885	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
125954	N	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Tuysuz, B.  et al. 2001	11556984				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Turkish	Turkey	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Jun;57(6):540-2	HLA-DQ alleles in patients with celiac disease in Turkey.		604305	21886	2	2001	No statistically significant correlation was found between the homozygosity of this haplotype or the DQB1*02 allele and an earlier onset of the disease.	Control:50 control subjects;Case:55 Turkish children with celiac disease:Turkey										
125949	Y	asthma; urticaria	IMMUNE	IMM	Urticaria	6	6p21.3	HLA-DQB1	32735641	32742374		Kim, S. H.  et al. 2005	15784113				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Korea	CDC GDPinfo	3119	Hs.409934			Clinical and experimental allergy. 2005 Mar;35(3):339-44	The human leucocyte antigen-DRB1*1302-DQB1*0609-DPB1*0201 haplotype may be a strong genetic marker for aspirin-induced urticaria.		604305	21881	2	2005	 These findings suggest that the HLA-DRB1(*)1302-DQB1(*)0609-DPB1(*)0201 may be a strong genetic marker to determine the aspirin-induced urticaria phenotype.	Control:185 normal healthy controls;Case:94/76 aspirin-induced urticaria patients presenting urticaria/angioedema-induced by both ASA and NSAID (n=94) and aspirin-intolerant asthmatics (n=76):Korea										
125950		atopy	IMMUNE	IMM	Respiratory Hypersensitivity	6	6p21.3	HLA-DQB1	32735641	32742374		Kinnunen, T.  et al. 2005	15969672				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and experimental allergy. 2005 Jun;35(6):797-803	The DR4-DQ8 haplotype and a specific T cell receptor Vbeta T cell subset are associated with absence of allergy to Can f 1.		604305	21882	2	2005	 The DR4-DQ8 haplotype and the TCR Vbeta5.1(+) CD4(+) T cells may be protective against allergy to Can f 1.		dog allergen									
125951		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Marrosu, M. G.  et al. 2005	16096810				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of neurology. 2005	Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population.		604305	21883	2	2005												
125946		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Lin, J. H.  et al. 2003	12878363				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Aug;64(8):830-4	Molecular analyses of HLA-DRB1, -DPB1, and -DQB1 in Jing ethnic minority of Southwest China.		604305	21878	2	2003	The comparison of HLA class II allele and haplotype frequencies in Jing with those in other populations all over the world and a dendrogram based on the DRB1, DQB1 and DPB1 genes suggested that Jing ethnic population has an origin of Southeast Asia and is belonged to the southern group of Chinese populations.	Cohort 144 random selected Jing ethnic individuals South China 										
125947		beryllium disease	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Maier, L. A.  et al. 2003	14662898				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of immunology (Baltimore, Md :  1950). 2003 Dec;171(12):6910-8	Influence of MHC class II in susceptibility to beryllium sensitization and chronic beryllium disease.		604305	21879	2	2003	We conclude that  DPB1 Glu69 is a marker of sensitization and not specific for disease. Glu(69) homozygosity acts as a functional marker associated with markers of CBD severity.	Control:125 beryllium-exposed nondiseased individuals;Case:50/104 beryllium disease (n=104) and beryllium:sensitizated (n=50) individuals										
125948		sclerosis, systemic	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Tikly, M.  et al. 2004	15104683				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	South African	Africa, Southern	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 May;63(5):487-90	Human leukocyte antigen class II associations with systemic sclerosis in South Africans		604305	21880	2	2004	The association of AFAs with class II alleles merits further investigation.	Control:112:controls;Case:52 Black South Africans with systemic sclerosis										
125943		cirrhosis, primary biliary	OTHER	OTH	Liver Cirrhosis, Biliary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wassmuth, R.  et al. 2002	12144621				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Swedish	Sweden	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 May;59(5):381-7	HLA class II markers and clinical heterogeneity in Swedish patients with primary biliary cirrhosis.		604305	21875	2	2002	Although a significant disease association was seen for HLA DRB1*08 and DQB1*0402, immunogenetic markers identified neither a particular subset of patients nor an association with the clinical course of the disease. HLA-DRB1*08 and DQB1*0402 provide the strongest immunogenetic influence in PBC. However, this association is not restricted to any particular, clinically defined subgroup of patients and it is not predictive for the course of the disease.	Control:158:controls;Case:99 Swedish primary biliary cirrhosis patients										
125944		allergies	IMMUNE	IMM	Hypersensitivity	6	6p21.3	HLA-DQB1	32735641	32742374		Sakaguchi, M.  et al. 2002	12144625				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 May;59(5):412-6	Analysis of HLA in children with gelatin allergy.		604305	21876	2	2002	We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.	Control:240 unrealted controls;Case:49 patients with gelatin allergy										
125945		lymphoma	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Al-Hussein, K. A.  et al. 2002	12445309				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Sep;60(3):259-61	HLA class II sequence-based typing in normal Saudi individuals.		604305	21877	2	2002	This study represents the first molecular report on the HLA class II allele frequency in the population of Saudi Arabia.	Cohort individuals in the Saudi population Saudi Arabia 										
125940		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ovsyannikova, I. G.  et al. 2005	15712014				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine.		604305	21872	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vaccine 										
125941		graft acceptance, liver	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Zhou, L.  et al. 2005	15982255				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 Jul;66(1):37-43	Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of Shandong Han population in China.		604305	21873	2	2005												
125942		scleroderma	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Gilchrist, F. C.  et al. 2001	11393660				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain	CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2001 Apr;2(2):76-81	Class II HLA associations with autoantibodies in scleroderma: a highly significant role for HLA-DP.		604305	21874	2	2001	We have identified a significant association between the ATA and HLA-DPB1*1301 which may provide an insight into how this autoantibody is formed. Patient clinical characteristics depend on the autoantibodies they carry.	Case:202 scleroderma patients;Control:307 UK control subjects										
125937		immunology study	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ovsyannikova, I. G.  et al. 2005	15655774				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2005 Feb;191(4):515-9	Human Leukocyte Antigen Class II Alleles and Rubella-Specific Humoral and Cell-Mediated Immunity Following Measles-Mumps-Rubella-II Vaccination		604305	21869	2	2005	This study of HLA class II-restricted humoral and cellular immune responses to rubella provides significant insight into mechanisms of vaccine response and new vaccine development.	Cohort 346 schoolchildren 										
125938		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ovsyannikova, I. G.  et al. 2005	15712014				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine		604305	21870	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vacine 										
125939		silicosis	IMMUNE	IMM	Silicosis	6	6p21.3	HLA-DQB1	32735641	32742374		Ueki, A.  et al. 2005	15703453				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of occupational health. 2005 Jan;47(1):61-7	Anti-caspase-8 autoantibody response in silicosis patients is associated with HLA-DRB1, DQB1 and DPB1 alleles.		604305	21871	2	2005	Repeated and continuous screening of autoantibodies seems to be necessary among workers in contact with Si-related substances for the detection of immunological disorders in the early stage.	Control:controls;Case silicosis patients	anti-caspase-8 autoantibody response									
125934		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Ramal, L. M.  et al. 2001	11260508				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Gypsy, Roma		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Feb;57(2):138-43	HLA class II allele distribution in the Gypsy community of Andalusia, southern Spain		604305	21866	2	2001	In summary our data support the hypothesis of a common anthropological origin of all three European Gypsy groups, which probably split up after their arrival in Europe.	Cohort 80 unrelated Gypsies living in different eastern areas of the Andalusian province Granada, Southern Spain 										
125935		cirrhosis, primary biliary	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Renquin, J.  et al. 2001	11782272				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Oct;58(4):211-22	HLA class II polymorphism in Aka Pygmies and Bantu Congolese and a reassessment of HLA-DRB1 African diversity.		604305	21867	2	2001	Overall, this study shows that natural selection must be taken into account when interpreting the patterns of HLA diversity, but that this effect is probably minor in relation to the stochastic events of human population differentiations.	Cohort two African populations, the Basse Lobaye Aka Pygmies of the Central African Republic, and a Bantu-speaking group from the Democratic Republic of Congo Kinshasa 										
125936		retinopathy, diabetic	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Fu, Y.  et al. 2003	12694588				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Feb;61(2):179-83	HLA-DRB1, DQB1 and DPB1 polymorphism in the Naxi ethnic group of South-western China.		604305	21868	2	2003	The distribution characteristics of the HLA class II alleles revealed that the Naxi ethnic group belonged to the Southern group of Chinese.	Cohort unrelated healthy volunteers from the Naxi ethnic group South-western China 										
125931		HIV	INFECTION	INF	Mycobacterium avium-intracellulare Infection|AIDS-Related Opportunistic Infections|HIV Seropositivity	6	6p21.3	HLA-DQB1	32735641	32742374		Naik, E.  et al. 2003	12794545				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		United States	CDC GDPinfo	3119	Hs.409934			Journal of acquired immune deficiency syndromes (1999). 2003 Jun;33(2):140-5	The complexity of HLA class II (DRB1, DQB1, DM) associations with disseminated Mycobacterium avium complex infection among HIV-1-seropositive whites.		604305	21863	2	2003	Apparent joint effects of DRB1 and DM allelic combinations on occurrence and timing of DMAC suggest that class II disease relationships may be better predicted by biologically plausible interactive combinations than by polymorphisms in individual genes.	Case:176 disseminated Mycobacterium avium complex, HIV-1 seropositive whites from the Multicenter AIDS Cohort study;Control:176:controls										
125932	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Zhang, S.  et al. 2001	11592043				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):362-5	[Sequencing-based typing of HLA-DPB1 and DQB1 exon 2 in patients with type 1 diabetes mellitus]		604305	21864	2	2001	 DPB1*2201, DQB1*0201, *0303 and *0604 may be susceptible alleles, and DPB1*0402 and DQB1*0301 may be protective alleles in patients with type 1 diabetes mellitus.	Control:38 normal controls;Case:52 type 1 diabetic patients										
125933		endometriosis	REPRODUCTION	REP	Endometriosis	6	6p21.3	HLA-DQB1	32735641	32742374		Ishii, K.  et al. 2003	12721173				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human reproduction (Oxford, England). 2003 May;18(5):985-9	Associations between patients with endometriosis and HLA class II; the analysis of HLA-DQB1 and HLA-DPB1 genotypes		604305	21865	2	2003	 The HLA systems may be involved in the aetiology of endometriosis, although further study is needed.	Control:222:controls;Case:83 patients diagnosed with endometriosis										
125928		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sanjeevi, C. B.  et al. 2002	12021089				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:107-11	Genetics of latent autoimmune diabetes in adults.		604305	21860	2	2002	These findings suggest that certain genetic markers distinguish LADA better.											
125929		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lopez-Vazquez, A.  et al. 2004	15089899				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Africa, Northern	CDC GDPinfo	3119	Hs.409934			The American journal of gastroenterology. 2004 Apr;99(4):662-7	MHC class I region plays a role in the development of diverse clinical forms of celiac disease in a Saharawi population.		604305	21861	2	2004	 The elevated prevalence of CD in Saharawi seems to be related to the high frequency of HLA-DQ2 in this population. However, the development of atypical or typical forms of the disease may be due to a gene or genes located in the class I side of the haplotype B8/DR3/DQ2, especially MICA. This appears not to be implicated in the susceptibility to CD but may play an important role in the development of the different forms of the disease.	Case:125 celiac disease patients Spanish Sahara;Control:98 healthy controls										
125930		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bittencourt, P. L.  et al. 2002	12235090				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Gut. 2002 Oct;51(4):609-10	Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.		604305	21862	2	2002	In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues.	Case:63 Brazilian patients with primary sclerosing:cholangitis Sao Paulo, Brazil;Control:83 healthy controls										
125925		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Slomov, E.  et al. 2003	12878355				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish	Israel	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Aug;64(8):771-9	Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.		604305	21857	2	2003	These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process.	Case:38 Jewish pemphigus vulgaris patients;Control:76 healthy controls										
125926		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Falfan-Valencia, R.  et al. 2005	16133177				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human genetics. 2005 Nov;118(2):235-44	Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis.		604305	21858	2	2005												
125927		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dorak, M. T.  et al. 2005	15902698				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.		604305	21859	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
125923		stroke, ischemic	CARDIOVASCULAR	CARD	Respiratory Tract Infections|Cerebrovascular Accident|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zou, L. P.  et al. 2002	12373032				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		China	CDC GDPinfo	3119	Hs.409934			European neurology. 2002 ;48(3):153-7	Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.		604305	21855	2	2002	Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition.	Case idiopathic childhood stroke subjects;Control:controls	bacterial infection viral infection									
125924		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Witt, C. S.  et al. 2002	12542740				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	India|Europe	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Dec;60(6):474-80	Common HLA-B8-DR3 haplotype in Northern India is different from that found in Europe.		604305	21856	2	2002	It was found that the Indian samples represent a conserved haplotype in which all alleles were shared by Indian subjects with HLA-B8 and HLA-DR3, but were different to those that are characteristic of the European 8.1 ancestral haplotype. The Indian and European haplotypes share HLA-B*0801, HLA-DRB1*0301 and HLA-DQB1*02 but differ for subtypes of HLA-Cw*07 and HLA-DRB3 and all central MHC alleles tested. In contrast, Indian subjects selected on the basis of HLA-B58 ( 1-17) and HLA-DR3 shared the same alleles at other MHC loci as have been described in the common Chinese haplotype with HLA-B58/17 and HLA-DR3. A third haplotype, HLA-B50/21 and HLA-DR3, was also found to be highly conserved but shares little in common with the other two HLA-DR3-containing Indian haplotypes.	Cohort individuals from northern India 										
125919	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Anaya, J. M.  et al. 2002	12077712				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Colombian	Colombia	CDC GDPinfo	3119	Hs.409934			Seminars in arthritis and rheumatism. 2002 Jun;31(6):396-405	TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjogren's syndrome.		604305	21851	2	2002	 The data show genetic evidence suggesting that, in Colombians, a region immersed or in the vicinity in the HLA class II system is strongly associated with a predisposition to acquire pSS, which is probably located between the TAP2 and HLA-DQB1 locus. Our results confirm that the HLA-DRB1*0301-DQB1*0201 haplotype participates in the pathogenesis of pSS.	Case:73 Colombian patients with primary Sjogren's syndromec:(95% women);Control:76 healthy controls										
125920		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Loiseau, P.  et al. 2001	11423179				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Jul;62(7):725-31	HLA class I and class II are both associated with the genetic predisposition to primary Sj????gren syndrome.		604305	21852	2	2001	The novel association of HLA class I alleles with susceptibility to pSS provides new insights to the genetic predisposition to this disease and subsequently to its physiopathology.	Control:222 healthy unrelated Caucasians;Case:46 pSS patients responding to the European criteria										
125921		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Machulla, H. K.  et al. 2003	14693734				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1438-42	Meningioma: is there an association with humanleukocyte antigens?		604305	21853	2	2003	These associations may be indicative of the involvement of the immune system in the host antitumor surveillance, recognition, and destruction of de novo arising human tumor cells.	Control:157 area- and race-matched healthy controls;Case:81 adult Caucasian patients with symptomatic central nervous system meningiomas										
125916		beta cell autoimmunity	IMMUNE	IMM	Autoimmune Diseases	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2005	16025255				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2005 Sep;48(9):1766-75	The effect of HLA class II, insulin and CTLA4 gene regions on the development of humoral beta cell autoimmunity.		604305	21848	2	2005												
125917	N	cirrhosis, biliary primary	OTHER	OTH	Liver Cirrhosis, Biliary|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Bittencourt, P. L.  et al. 2003	12911663				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Journal of gastroenterology and hepatology. 2003 Sep;18(9):1061-6	Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis.		604305	21849	2	2003	 Susceptibility to PBC in Brazil is not associated with HLA-DR and DQ antigens and CTLA-4 genotypes. TNFA alleles were not shown to influence disease progression.	Case primary biliary cirrhosis patients;Control healthy controls										
125918		Wegener's granulomatosis	OTHER	OTH	Wegener Granulomatosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Spriewald, B. M.  et al. 2005	15708894				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the rheumatic diseases. 2005 Mar;64(3):457-61	Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis.		604305	21850	2	2005	 Disease susceptibility and clinical course in WG may be associated with distinct polymorphisms of cytokine and CTLA4 genes.	Case:32 patients with generalized Wegener's granulomatosis;Control:91 healthy controls										
125913		diabetes, type 1; thyroid disease, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	6	6p21.3	HLA-DQB1	32735641	32742374			16352685				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2005	The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multi-centercollaborative study in Japan		604305	21845	2	2005	 Given the high frequency of AITD in patients with type 1 diabetes, these data suggest the possibility that the association of CTLA4 with type 1 diabetes in previous studies may have been secondary to AITD, suggesting the importance of subclassification of type 1 diabetes relative to AITD in genetic studies.											
125914	Y	thyroiditis, Hashimoto's	IMMUNE	IMM	Thyroiditis, Autoimmune	6	6p21.3	HLA-DQB1	32735641	32742374		Petrone, A.  et al. 2001	11288988				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Thyroid. 2001 Feb;11(2):171-5	Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population		604305	21846	2	2001	These data suggest that these two polymorphic sites at CTLA-4 do not play a major role in the susceptibility of the disease in an Italian population while female gender, age over 50 years, HLA DRB1*04-DQB1*0301 haplotype increase the risk of developing HT.	Case:126 patients with Hashimoto's thyroiditis Italy-Lazio region;Control:301 control subjects Italy-Lazio region										
125915		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Lorentzen, A. R.  et al. 2005	16005527				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Norway	CDC GDPinfo	3119	Hs.409934			Journal of neuroimmunology. 2005 Sep;166(2-Jan):197-201	Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients.		604305	21847	2	2005												
125910		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zalloua, P. A.  et al. 2004	15301861				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Lebanon	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Jul;65(7):719-24	Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene.		604305	21842	2	2004	This study suggests that CTLA4 is a candidate susceptibility gene for T1D.	Case:190 patients with type 1 diabetes and their families;Control:96 control individuals										
125911	Y	Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Iwama, S.  et al. 2005	15640608				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			Hormone research. 2005 ;63(2):55-60	Association of HLA-DR, -DQ Genotype and CTLA-4 Gene Polymorphism with Graves' Disease in Japanese Children		604305	21843	2	2005	 the association of HLA-DRB1 and DQB1 genotype with susceptibility to childhood onset GD differs from that in adult onset GD, whereas the association between CTLA-4 gene polymorphism and childhood onset GD is similar to that in adult onset GD in Japanese individuals, but the association is weak.	Control healthy controls;Case:43 Japanese Graves' disease patients										
125912		Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Petrone, A.  et al. 2005	15785242				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Thyroid. 2005 Mar;15(3):232-8	CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population.		604305	21844	2	2005	These results highlight the role of the CTLA-4 locus, in addition to HLA, in the susceptibility to GD. Inside the CTLA-4 region, CT60 appears to be the most associated polymorphism to GD, however, further studies are needed to identify the etiologic variant.	Case:150 patients with Graves' disease;Control:301 controls matched for age and gender										
125907	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cocco, E.  et al. 2005	15699400				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Neurology. 2005 Feb;64(3):564-6	HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS.		604305	21839	2	2005	The risk of the primary progressive course was increased (odds ratio = 6.81, p = 0.002) in women carrying the APOE4 but not the DRB1-DQB1 predisposing genotype, suggesting in this subgroup of patients a reciprocal influence between these genes and gender in modulating clinical variability of the disease.	Control:348 control subjects;Case:871 patients with multiple sclerosis (773 with relapsing and 98 with primary progressive disease)										
125908	Y	azoospermia	REPRODUCTION	REP	Oligospermia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Matsuzaka, Y.  et al. 2002	12366783				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jul;60(1):53-63	Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604		604305	21840	2	2002	Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia.	Case patients with non-obstructive azoospermia;Control:controls										
125904		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance|Metabolic Syndrome X|Obesity	6	6p21.3	HLA-DQB1	32735641	32742374		Giger, J. N.  et al. 2005	15825968				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Alabama|Georgia	CDC GDPinfo	3119	Hs.409934			Ethnicity & disease. 2005 ;15(2):221-32	Genetic predictors of coronary heart disease risk factors in premenopausal African-American women.		604305	19906	2	2005	 The association of APOE, DRB1, D6589 and TNFa alleles with risk of CHD suggest that these are candidate genes or linked to genes for CHD in this cohort of AAW. Our data supported elevated plasma Lp(a) as a potential risk factor in AAW; however, its role is still unclear. The premenopausal AAW in this sample had a higher than expected rate of metabolic syndrome, which was associated with DRB1 alleles.	Control:117 African-American premenopausal community and military subjects who were at low risk for coronary heart disease;Case:173 African-American premenopausal community and military subjects who were at high risk for coronary heart disease										
125905		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		McHugh, N.  et al. 2005	16107511				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the rheumatic diseases. 2005	MHC Class II, tumor necrosis factor-{alpha} and lymphotoxin-{alpha} gene haplotype associations with serological subsets of systemic lupus erythematosus.		604305	19908	2	2005	 The strongest association in this predominantly white population with SLE was between HLA-DR3 and anti-La, which seemed to account for any associations with TNFalpha alleles on an extended DR3 haplotype.											
125901		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Vatay, A.  et al. 2002	12270547				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunology letters. 2002 Nov;84(2):109-115	Differences in the genetic background of latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus.		604305	19898	2	2002	 Our findings indicate that there are marked differences in the genetic background of type 1 diabetes and LADA. The low presence of TNF2 allele (known to be associated with high amount of TNF alpha production) in LADA could be one of the factors responsible for the relatively slow progression.	Control:336/138 cadaver kidney donors (n=336) and volunteers:(n=138);Case:69/42 type 1 diabetic (n=69) and Latent Autoimmune Diabetes in Adults (n=42) patients		HLA-DRB1	*04	HLA-DQB1	*0302 (DR4/DQ8)	TNF2		Y		Latent Autoimmune Diabetes in Adults
125903		cutaneous neonatal lupus	IMMUNE	IMM	Heart Block|Lupus Erythematosus, Cutaneous	6	6p21.3	HLA-DQB1	32735641	32742374		Clancy, R. M.  et al. 2004	15334474				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Arthritis and rheumatism. 2004 Aug;50(8):2598-603	Genetic association of cutaneous neonatal lupus with HLA class II and tumor necrosis factor alpha:Implications for pathogenesis		604305	19903	2	2004	 Taken together, the finding of a genetic predisposition to generate increased levels of TNFalpha following tissue injury and the histologic demonstration of TNFalpha in the target organ support the notion that this inflammatory cytokine plays a role in the pathogenesis of cutaneous neonatal lupus. Furthermore, the results of these studies provide evidence of a biologic link between neonatal lupus and the rash of SCLE.	Cohort 83/58 children (22 with rash, 35 with congenital heart block [CHB], 26 unaffected siblings) and 58 mothers from the Research Registry for Neonatal Lupus 										
125898	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Aguilera, E.  et al. 2003	12605834				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Med Clin (Barc). 2003 Feb;120(4):121-4	[Clinical, metabolic, immunologic and genotypic characteristics in non-pediatric patients with type 1A diabetes mellitus. Onset and short-term prognosis]		604305	19776	2	2003	 Clinical, immunological and HLA characteristics of a non-pediatric DM1 population are in agreement with expected results. The absence of pancreatic autoimmune markers neither rules out the existence of type 1A diabetes mellitus nor is associated with mutations in the MODY-3 gene. A therapeutic programme using conventional intensified insulin treatment prevents the impairment of insulin secretory capacity for a short-term follow-up.	Cohort 86 subjects with an age >= 15 and 35 years recently diagnosed with type 1 diabetes 1998-2001 										
125899	Y	typhoid fever	INFECTION	INF	Typhoid Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dunstan, S. J.  et al. 2001	11120931				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Vietnamese	Vietnam	CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2001 Jan;183(2):261-268	Genes of the class II and class III major histocompatibility complex are associated with typhoid fever in Vietnam.		604305	19892	2	2001	This report identifies a genetic association in humans between typhoid fever and MHC class II and III genes.	Case individuals with blod culture-confirmed typhoid:fever;Control:controls										
125900		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zanelli, E.  et al. 2001	11165717				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Jan;62(1):75-84	The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci.		604305	19893	2	2001	We conclude that  the telomeric part of the HLA region contains a locus conferring predisposition to RA independently of HLA class II.	Case:132 rhematoid arthritis patients;Control:254:controls										
125895		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DQB1	32735641	32742374		Shaat, N.  et al. 2004	15095040				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Scandinavia	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2004 May;47(5):878-84	Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus.		604305	19038	2	2004	Gestational diabetes mellitus was associated with the presence of GAD65Ab in both study groups. Scandinavian women with gestational diabetes may share some genetic features with Type 1 diabetes. In addition, Arabian women with gestational diabetes are more insulin resistant than Scandinavian women with gestational diabetes and with the same BMI.	Case:500 unrelated women with gestational diabetes (400 Scandinavian and 100 Arabian);Control:550 unrelated pregnant non-diabetic control women (428 Scandinavian and 122 Arabian) matched for ethnicity										
125896		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kretowski, A.  et al. 2000	11064106				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunology letters. 2000 Nov;74(3):225-8	L-selectin gene T668C mutation in type 1 diabetes patients and their first degree relatives.		604305	19353	2	2000	the T668C L-selectin gene mutation could have a (protective?) role in the development of IDDM, but further studies concerning their role in type 1 diabetes are needed.	Case type 1 diabetes patients;Control healthy controlsn and unaffected siblins of IDDM:subjects										
125897		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	HLA-DQB1	32735641	32742374		Brown, M. A.  et al. 2002	12118167				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		604305	19751	2	2002	Review article											
125892		Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Wang, C.  et al. 2005	15747244				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2005 Apr;191(7):1084-92	Human leukocyte antigen and cytokine gene variants as predictors of recurrent Chlamydia trachomatis infection in high-risk adolescents.		604305	17689	2	2005	Consistent with the observed IL10 association, cervical secretions in female adolescents without the IL10 G-C-C haplotype had elevated IL-10 concentrations after Chlamydia infection, which may reflect involvement of a Chlamydia-specific mechanism for genetically mediated, differential IL-10 expression in the genital tract.	Cohort 485 North American adolescents at high risk for genital Chlamydia trachomatis infection 										
125893		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diseases in Twins	6	6p21.3	HLA-DQB1	32735641	32742374		Metcalfe, K. A.  et al. 2001	11347740				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain	CDC GDPinfo	3119	Hs.409934			Diabetes care. 2001 May;24(5):838-42	Concordance for type 1 diabetes in identical twins is affected by insulin genotype.		604305	17802	2	2001	 We conclude that the possession of the high-risk Hph I insulin genotype increases the likelihood of identical twins being concordant for type 1 diabetes and that the load of both major histocompatibility complex (MHC) and non-MHC susceptibility genes has an impact on the disease penetrance of type 1 diabetes.	Cohort 77 monozygotic twin pairs (40 concordan and 37 discordant for type 1 diabetes) 										
125894		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Motzo, C.  et al. 2004	15561961				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes. 2004 Dec;53(12):3286-91	Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.		604305	17810	2	2004	These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity.	Control:1,023 control subjects;Case:944 type 1 diabetic patients:Sardinia										
125889		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Blood Group Incompatibility|Graft vs Host Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Greinix, H. T.  et al. 2005	15531903				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Bone marrow transplantation. 2005 Jan;35(1):57-62	Impact of HLA class I high-resolution mismatches on chronic graft-versus-host disease and survival of patients given hematopoietic stem cell grafts from unrelated donors.		604305	17474	2	2005	Overall survival was significantly reduced in patient/donor pairs with more than one-allele class I mismatch. Thus, selection of unrelated donors for transplantation should be based on high-resolution HLA class I typing.	Cohort 144 patients given hematopoietic stem cell transplantation from unrelated donors 										
125890	Y	allergy, latex; latex allergy	IMMUNE	IMM	Spinal Dysraphism|Latex Hypersensitivity|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rihs, H. P.  et al. 2002	12209103				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of allergy and clinical immunology. 2002 Sep;110(3):507-14	HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy		604305	17479	2	2002	 The DQB1*0302 (DQ8) alone, the DQB1*0302 (DQ8)-DRB1*04 (DR4) haplotype, or both are significantly involved in the hevein-specific IgE immune response in HCWs with latex allergy.	Case:269/56 healthy care workers (n=269) and spina bifida patietns (n=56) with latex allergies;Control:90 nonatopic control subjects		HLA	DQB1*0302 (DQ8)-DRB1*04 (DR4)	HLA	DQB1*0302 (DQ8)			Y		hevein-specific IgE immune response in health care workers with latex allergy
125891	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cardoso, C. B.  et al. 2005	15908298				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			European journal of dermatology. 2005 May-Jun;15(3):159-63	Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis.		604305	17486	2	2005	These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.	Control:100:controls;Case:60 psoriasis vulgaris patients:Campinas, Brazil										
125886		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374			16386650				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Oct;66(10):1074-81	Association of HLA-DR and HLA-DQ Genes With Susceptibility to Pulmonary Tuberculosis in Koreans: Preliminary Evidence of Associations WithDrug Resistance, Disease Severity, and Disease Recurrence		604305	17449	2	2005												
125887	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DQB1	32735641	32742374			16393997				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of immunology (Baltimore, Md :  1950). 2006 Jan;176(2):1090-7	Aspartic Acid Homozygosity at Codon 57 of HLA-DQ {beta} Is Associated with Susceptibility to Pulmonary Tuberculosis in Cambodia		604305	17450	2	2006												
125888		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	6	6p21.3	HLA-DQB1	32735641	32742374		Yoshizawa, K.  et al. 2003	12694584				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Feb;61(2):159-65	Long-term follow-up of hepatitis C virus infection:HLA class II loci influences the natural history of the disease.		604305	17472	2	2003	Our findings establish that certain HLA class II alleles strongly influence disease progression following HCV infection.	Cohort 103 chronically infected Japanese HCV patients 										
125883		sensorineural hearing loss	OTHER	OTH	Hearing Loss, Sensorineural|Hearing Loss, Sudden|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Amor-Dorado, J. C.  et al. 2005	16303674				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish		CDC GDPinfo	3119	Hs.409934			Acta oto-laryngologica. 2005 Dec;125(12):1277-82	Human leukocyte antigen-DQB1 and -DRB1 associations in patients with idiopathic sudden sensorineural hearing loss from a defined population of Northwest Spain.		604305	17446	2	2005	 The results of this study support the assertion that Southern European individuals have a genetically mediated predisposition to develop idiopathic sudden sensorineural hearing loss (SNHL). OBJECTIVE: To assess the influence of human leukocyte antigen (HLA)-DQB1 and -DRB1 alleles on the susceptibility to and the severity of idiopathic sudden SNHL. MATERIAL AND METHODS: A prospective study of patients diagnosed with idiopathic sudden SNHL between October 2000 and September 2002 was conducted. Patients were included in the study if they were diagnosed with idiopathic sudden SNHL within 1 week after the onset of deafness symptoms and had been followed for at least 12 months. HLA-DQB1 and -DRB1 typing was performed from DNA using molecular-based methods on patients and ethnically matched healthy controls. RESULTS: Thirty-three patients fulfilled the inclusion criteria. No significant differences in HLA-DQB1 phenotype frequencies were found between patients and controls (n = 145). Carriage of HLA-DRB1*0403 was significantly increased in the whole group of patients compared with controls (OR = 11.97; 95% CI 1.99-91.60; p = 0.002; p(corr) = 0.04). In patients without auditory improvement the frequency of the HLA-DRB1*04 phenotype was significantly increased compared with healthy controls (OR = 6.57; 95% CI 1.62-26.70; p = 0.003; p(corr) = 0.04).											
125884	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16320082				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia. 2005 Dec;48(12):2540-3	D6S265*15 marks a DRB1*15, DQB1*0602 haplotype associated with attenuated protection from type 1 diabetes mellitus		604305	17447	2	2005												
125885		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Prediabetic State	6	6p21.3	HLA-DQB1	32735641	32742374			16358956				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rocz Akad Med Bialymst. 2005 ;50:151-4	Interleukin 18 and sICAM-1 serum levels in families with type 1 diabetes mellitus		604305	17448	2	2005												
125880		pemphigus vulgaris	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DQB1	32735641	32742374		Geng, L.  et al. 2005	16261886				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Chinese medical sciences journal. 2005 Sep;20(3):166-70	Association between pemphigus vulgaris and human leukocyte antigen in Han nation of northeast China.		604305	17443	2	2005	 PV significantly relates with HLA in PV patients of Han nation of northeast China.											
125881		rheumatoid arthritis, extra-articular	IMMUNE	IMM	Arthritis, Rheumatoid|Felty's Syndrome|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Turesson, C.  et al. 2005	16277691				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Arthritis research & therapy. 2005 ;7(6):R1386-93	The impact of HLA-DRB1 genes on extra-articular disease manifestations in rheumatoid arthritis.		604305	17444	2	2005												
125882	Y	vulval lichen sclerosus	OTHER	OTH	Vulvar Lichen Sclerosus|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Gao, X. H.  et al. 2005	16297186				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain	CDC GDPinfo	3119	Hs.409934			The Journal of investigative dermatology. 2005 Nov;125(5):895-9	The Association Between HLA DR, DQ Antigens, and Vulval Lichen Sclerosus in the UK: HLA DRB112 andits Associated DRB112/DQB10301/04/09/010 Haplotype Confers Susceptibility to Vulval Lichen Sclerosus, and HLA DRB10301/04 and its Associated DRB10301/04/DQB		604305	17445	2	2005												
125877		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		McGuigan, C.  et al. 2005	16158194				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Ireland	CDC GDPinfo	3119	Hs.409934			Journal of neurology. 2005 Oct;252(10):1245-8	Population frequency of HLA haplotypes contributes to the prevalence difference of multiple sclerosis in Ireland.		604305	17440	2	2005	 Although the numbers tested in this study were small the results suggest one of the factors accounting for the difference in MS prevalence across the island of Ireland is likely to be variation in the genetic predisposition to MS within the Irish population.											
125878		polyangiitis	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Tsuchiya, N.  et al. 2005	16208405				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2006 Jan;7(1):81-4	Association of HLA-DRB1(*)0901-DQB1(*)0303 haplotype with microscopic polyangiitis in Japanese.		604305	17441	2	2005												
125879		hepatitis B	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Han, Y. N.  et al. 2005	16237774				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			World journal of gastroenterology. 2005 Sep;11(36):5721-4	Relationship of human leukocyte antigen class II genes with the susceptibility to hepatitis B virus infection and the response to interferon in HBV-infected patients.		604305	17442	2	2005	 The polymorphism of HLA class II may influence the susceptibility to HBV infection and the response to IFN in studied CHB patients. Compared with other HLA-DRB1 alleles, HLA-DRB1*06, DRB1*08, and DRB1*16 may be associated with chronicity of HBV infection, HLA-DRB1*07 with protection against HBV infection, and HLA-DRB1*14 allele may be associated with a high rate of the response of CHB patients to IFN treatment. Compared with other HLA-DQB1 alleles, HLA-DQB1*07 may be associated with low response rate to IFN.		interferon									
125874		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Emery, L. M.  et al. 2005	16109069				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Pediatric diabetes. 2005 Sep;6(3):136-44	Newborn HLA-DR,DQ genotype screening: age- andethnicity-specific type 1 diabetes risk estimates.		604305	17437	2	2005	 These results indicate that there are multiple alleles and genotypes associated with T1DM and that the risk associated with different genetic markers depends on the age of disease onset, suggesting that some markers may be involved in more rapid disease progression.											
125875	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary	6	6p21.3	HLA-DQB1	32735641	32742374		Voorter, C. E.  et al. 2005	16112030				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Jul;66(7):826-35	Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1*0602-DRB1*150101.		604305	17438	2	2005												
125876		retinopathy, diabetic; diabetes, type 1	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Mimura, T.  et al. 2005	16157380				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Ophthalmology. 2005 Nov;112(11):1904-9	Glutamic acid decarboxylase autoantibody prevalence and association with HLA genotype in patients with younger-onset type 1 diabetes and proliferative diabetic retinopathy.		604305	17439	2	2005	 We found that the existence of GAD antibodies is inversely related and HLA status is directly related to the stage or severity of retinopathy.											
125871		diabetes, type 2	METABOLIC	MET	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Caputo, M.  et al. 2005	16042135				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Medicina. 2005 ;65(3):235-40	[HLA DQB1 genotyping in latent autoimmune diabetes of adults (LADA)]		604305	17433	2	2005												
125872		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy	6	6p21.3	HLA-DQB1	32735641	32742374		Black, J. L. = 3rd et al. 2005	16043129				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Biological psychiatry. 2005 Sep;58(6):504-9	Studies of humoral immunity to preprohypocretin in human leukocyte antigen DQB1*0602-positive narcoleptic subjects with cataplexy.		604305	17434	2	2005	 The hypothesis that DQB1*0602-positive narcoleptic subjects with cataplexy have IgG reactive to preprohypocretin or its cleavage products was not supported.											
125873		Lyme disease	INFECTION	INF	Lyme Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Klempner, M. S.  et al. 2005	16107953				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2005 Sep;192(6):1010-3	A case-control study to examine HLA haplotype associations in patients with posttreatment chronic Lyme disease.		604305	17436	2	2005			antibiotics									
125868		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DQB1	32735641	32742374		Dubaniewicz, A.  et al. 2005	15958261				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Poland	CDC GDPinfo	3119	Hs.409934			Tuberculosis (Edinburgh, Scotland). 2005 Jul;85(4):259-67	Frequency of DRB1-DQB1 two-locus haplotypes in tuberculosis: preliminary report.		604305	17428	2	2005												
125869		birth weight	REPRODUCTION	REP	Diabetes Mellitus|Diabetes Mellitus, Type 1|Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Larsson, H. E.  et al. 2005	15991024				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Sweden	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2005 Aug;48(8):1484-91	Diabetes-associated HLA genotypes affect birthweight in the general population.		604305	17430	2	2005												
125870		Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Park, M. H.  et al. 2005	15993720				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			Human immunology. 2005 Jun;66(6):741-7	Association of HLA-DR and -DQ genes with Graves disease in Koreans.		604305	17431	2	2005												
125865		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Zhou, Q.  et al. 2005	15854524				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue za zhi. 2005 Feb;85(6):370-3	[Proliferation of type II collagen specific T cell response and antibody formation in rheumatoid arthritis and their relations to HLA-DR4]		604305	17425	2	2005	 The formation of CII antibody may be related to B cell activation mediated by CII specific T cell.	Cohort 62 rheumatoid arthritis patients, 14 males and 48 females, aged 43 +/- 29 										
125866		HIV; Toxoplasmic encephalitis	INFECTION	INF	Toxoplasmosis, Cerebral|AIDS-Related Opportunistic Infections|Encephalitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Habegger de Sorrentino, A.  et al. 2005	15885635				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Argentina	CDC GDPinfo	3119	Hs.409934			Clinical immunology (Orlando, Fla). 2005 May;115(2):133-7	HLA class II involvement in HIV-associated Toxoplasmic encephalitis development.		604305	17426	2	2005	 It was concluded that the presence of HLA-DQB*0402 and DRB1*08 alleles in HIV-1-positive patients could be considered risk factors for developing neurological opportunistic infections, mainly Toxoplasmic encephalitis.	Case:108;Control:112 HIV-seronegative healthy individuals										
125867		H. pylori infection	INFECTION	INF	Helicobacter Infections	6	6p21.3	HLA-DQB1	32735641	32742374		Wen, G. S.  et al. 2005	15941540				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):286-9	[Immunogenetic analysis of human leukocyte antigen DRB1, DQB1 locus among Han ethnic children with Helicobacter pylori infection in Kunming]		604305	17427	2	2005	 These result suggested that HLA-DRB1 * 0901, DQB1 * 03032 might protect the H. pylori infection in Han ethnic population in Kunming.											
125862		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Petrone, A.  et al. 2005	15786423				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes. 2005 May-Jun;21(3):271-5	Residual insulin secretion at diagnosis of type 1 diabetes is independently associated with both, age of onset and HLA genotype.		604305	17422	2	2005	 The degree of beta-cell destruction at diagnosis of T1DM is independently associated with both, age of onset and HLA genotypes, the two variables exert a similar quantitative effect on residual beta-cell function at diagnosis.	Cohort 871 type 1 diabetes consecutive Caucasian patients 										
125863	Y	H. pylori infection	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Huang, Y. K.  et al. 2005	15833172				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua er ke za zhi Chinese journal of pediatrics. 2005 Feb;43(2):137-40	[Possible association between HLA-HRB1 and DQB1 genes frequency and susceptibility or resistance to Helicobacter pylori infection in Kunming Yi ethnic group children]		604305	17423	2	2005	 HLA-DRB1 * 12 and HLA-DQB1 * 0301 gene may be associated with protection against Hp infection in Kunming Yi ethnic group children. Further studies with larger sample size are needed to clarify if HLA-DRB1 * 11 and HLA-DQB1 * 04 are associated with susceptible gene to Hp infection.	Cohort 156 children of Yi ethnic group Kunming city 										
125864		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Anaya, J. M.  et al. 2005	15846589				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Colombian	Colombia	CDC GDPinfo	3119	Hs.409934			Seminars in arthritis and rheumatism. 2005 Apr;34(5):735-43	Immunogenetics of primary Sjogren's syndrome in Colombians.		604305	17424	2	2005	 The HLA-DRB1*0301-DQB1*0201 haplotype and IL-10 participate in the histopathological progression of SS, autoantibody production, and clinical manifestations. Bak protein and its gene polymorphism may participate in the pathology and susceptibility of disease. HLA and cytokine (IL-10 and IFN-gamma) manipulation may be helpful in treating patients with primary SS.	Case Sjogren's syndrome patients;Control:controls										
125859		psychological distress	PSYCH	PSY	Hypersensitivity, Delayed|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Smith, A.  et al. 2005	15664787				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Brain, behavior, and immunity. 2005 Mar;19(2):147-52	Does genotype mask the relationship between psychological factors and immune function?		604305	17417	2	2005	These results suggest that the distress/immune relationship in genetically susceptible or protected individuals may be underestimated in psychoneuroimmunology research.	Cohort 227 participant imunized with keyhole limpet hemocyanin 	keyhole limpet hemocyanin									
125860	Y	pollen allergy	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Jahn-Schmid, B.  et al. 2005	15696102				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of allergy and clinical immunology. 2005 Feb;115(2):399-404	Antigen presentation of the immunodominant T-cell epitope of the major mugwort pollen allergen, Art v 1, is associated with the expression of HLA-DRB1 *01.		604305	17418	2	2005	 Allergy to Art v 1 is characterized by a uniform T-cell response. The disease is apparently associated with the HLA-DR1 phenotype. Therefore, mugwort pollinosis is an ideal candidate for a peptide-based immunotherapy.	Case patients with allergy;Control healthy controls										
125861	Y	diabetes, type 1; Addison's disease	IMMUNE	IMM	Diabetes Mellitus, Type 1|Addison Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gambelunghe, G.  et al. 2005	15734871				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Diabetes. 2005 Mar;54(3):900-5	Retrovirus-like long-terminal repeat DQ-LTR13 and genetic susceptibility to type 1 diabetes and autoimmune Addison's disease.		604305	17420	2	2005	We provide conclusive evidence that the genetic association of DQ-LTR13 with type 1 diabetes and AAD is primarily due to a LD with DQB1*0302 and DRB1*0403.	Control:1,054 healthy subjects;Case:315/166 type 1 diabetic patients (n=315) and autoimmune Addison's disease (n=166) patients										
125856		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Ramal, L. M.  et al. 2004	15645749				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Gypsy, Roma	Mediterranean Region|Spain	CDC GDPinfo	3119	Hs.409934			Lupus. 2004 ;13(12):934-40	Systemic lupus erythematosus in southern Spain: acomparative clinical and genetic study between Caucasian and Gypsy patients.		604305	17414	2	2004	In conclusion, we found some clinical differences between WCM and Gypsy patients with SLE. Furthermore, HLA associations between HLA-DRB1-DQB1 and SLE were different for Gypsy people.	Control:185 healthy unrelated individuals, 105 WC and 80:Gypsies;Case:81/25 Caucasian Medieterranean (n=81) and Gypsy (n=25) patients with systemic lupus erythematosus										
125857	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dao, D. D.  et al. 2005	15661220				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Venezuela	CDC GDPinfo	3119	Hs.409934			Gynecologic oncology. 2005 Feb;96(2):349-54	HLA-DQB1 and cervical cancer in Venezuelan women.		604305	17415	2	2005	 This is the first report of HLA-DQB1 alleles associated with cervical carcinoma in Venezuelan women. Larger studies are needed to assess whether these HLA-DQB1*0201-0202 and *0402 alleles have a direct effect on disease susceptibility.	Case:36 Venezuelan cervical cancer subjects;Control:79 healthy controls										
125858		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Entz, P.  et al. 2005	15663743				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2005 Jan;65(1):67-80	New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing.		604305	17416	2	2005	Our well-elaborated Pyrosequencing(TM)-based protocols offer a new alternative to the existing HLA class-II typing methods and represent a convenient and economic solution, a unique combination of high accuracy with high-sample throughput.	Cohort samples from the Deutscher Zell Austausch 2002 and 2003 and standard DNA samples 										
125853		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Yu, J.  et al. 2004	15507397				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea|Europe	CDC GDPinfo	3119	Hs.409934			Clinical immunology (Orlando, Fla). 2004 Dec;113(3):318-25	Analysis of children with type 1 diabetes in Korea:high prevalence of specific anti-islet autoantibodies, immunogenetic similarities to Western populations with "unique" haplotypes, and lack of discrimination by aspartic acid at position 57 of DQB.		604305	17411	2	2004	We suggest this unique HLA-DR, -DQ allele distribution might be an important factor for the low incidence of T1DM in Korea, and the combined anti-islet autoantibody assays could be valuable screening markers for the early detection of T1DM in Korea.	Case Korean chidren with type 1 diabetes:Korea;Control:controls										
125854	Y	latex-fruit syndrome	IMMUNE	IMM	Food Hypersensitivity|Latex Hypersensitivity	6	6p21.3	HLA-DQB1	32735641	32742374		Blanco, C.  et al. 2004	15536412				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of allergy and clinical immunology. 2004 Nov;114(5):1070-6	Genetic basis of the latex-fruit syndrome:association with HLA class II alleles in a Spanish population.		604305	17412	2	2004	 Latex-fruit allergy is associated with HLA-DQB1 *0201, DRB1 *0301, and *0901, as well as with HLA-DR functional group E, whereas latex-not-fruit allergy is associated with DQB1 *0202, and with both DRB1 *0701 and *1101 alleles.	Control;Case:78 patients allergic to latex without spina bifida, 33% of them also allergic to fruits										
125850		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Novota, P.  et al. 2004	15388265				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunology letters. 2004 Sep;95(2):229-32	Diabetes mellitus in adults: association of HLADRB1 and DQB1 diabetes risk alleles with GADab presence and C-peptide secretion.		604305	17408	2	2004	We conclude that  the DRB1*04 and DQB1*0302 alleles are associated with progressive decrease of CP level, while DRB1*03 is a significant genetic marker of autoantibody (GADab) development.	Case:334 patients (190 women) diagnosed after 35 years of:age;Control:99 control subjects										
125851		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Murao, S.  et al. 2004	15448101				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Diabetes. 2004 Oct;53(10):2684-90	Differences in the contribution of HLA-DR and -DQ haplotypes to susceptibility to adult- and childhood-onset type 1 diabetes in Japanese patients.		604305	17409	2	2004	These results suggest differences in the contribution of HLA class II haplotypes to susceptibility of type 1 diabetes depending on the clinical phenotype and also indicate that HLA class II haplotypes may be associated with the onset age of type 1 diabetes.	Control:190 control subjects;Case:68/28/80 acute-onset type 1 diabetic patients (n=68), slowly progressive type 1 diabetic patients (n=28) and chilhood-onset type 1 diabetic patients (n=80)										
125847		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Shankarkumar, U.  et al. 2004	15336786				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Aug;65(8):847-54	HLA DRB1* and DQB1* allelic diversity among nadars:A primitive South Indian Dravidian caste group		604305	17405	2	2004	The present study shows that the Nadar caste has several unique alleles and haplotypes at high frequency that are rare or absent in other populations of India and the world.	Cohort 84 unrelated healthy Nadar individuals Tamil Nadu State, India 										
125848	N	hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	6	6p21.3	HLA-DQB1	32735641	32742374		Bril, W. S.  et al. 2004	15357778				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Haemophilia. 2004 Sep;10(5):509-14	HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg to Cys mutation		604305	17406	2	2004	Our data suggest that inhibitor development in mild haemophilia A patients with an Arg(593) to Cys mutation is not linked to HLA class II profile.	Cohort 49 patients with mild hemophilia A 										
125849		HIV; cytomegalovirus retinitis	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Diekman, L. A.  et al. 2000	15373622				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican		CDC GDPinfo	3119	Hs.409934			Immunohematology. 2000 ;16(2):74-7	Frequency of HLA-DQB*06 in Caucasian,African American, and Mexican American patients with a positive direct antiglobulin test.		604305	17407	2	2000	This article underscores the need to use race-matched controls when genetic disease associations are sought.	Case:275 patients (80 Caucasian, 113 African American, and 82 Mexican American) with a positive direct antiglobulin test;Control:518 normal controls (205 Caucasian, 208 African American, and 105 Mexican American)										
125844		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Vivax	6	6p21.3	HLA-DQB1	32735641	32742374		Oliveira-Ferreira, J.  et al. 2004	15301976				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Acta tropica. 2004 Sep;92(1):63-9	HLA class II and antibody responses to circumsporozoite protein repeats of P. vivax (VK210, VK247 and P. vivax-like) in individuals naturally exposed to malaria.		604305	17402	2	2004	The observed findings indicate that antibody responses to the CSP repeats of P. vivax variants appear to be modulated by HLA class II molecules in malaria naturally exposed individuals.	Cohort individuals living in malaria-endemic area Brazilian Amazon region 										
125845		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandes, A. P.  et al. 2004	15302166				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Molecular immunology. 2004 Aug;41(10):1047-50	Overexpression of HLA class I molecules on T cells among type 1 diabetes Brazilian patients.		604305	17403	2	2004	The increased HLA class I expression in subsets of T cells may be due to the proinflammatory profile of the disease as well as to the presence of diabetes susceptibility alleles.	Case:20 newly diagnosed Brazilian type 1 diabetic patients;Control:20 matched controls										
125846	Y	thryoiditis, chronic lymphocytic	IMMUNE	IMM	Goiter|Hypothyroidism|Autoimmune Diseases|Thyroiditis, Autoimmune|Atrophy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Engelbrecht Zantut-Wittmann, D.  et al. 2004	15305234				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Horm Metab Res. 2004 Jul;36(7):492-500	HLA-DRB1*04 and HLA-DQB1*03 association with the atrophic but not with the goitrous form of chronic autoimmune thyroiditis in a Brazilian population.		604305	17404	2	2004	We have demonstrated that the DRB1*04 allele is associated with autoimmune thyroiditis, and that there are genotypic differences regarding the presentation forms with a strong association between DRB1*04 and DQB1*03 and the atrophic form only.	Cohort 91 patients with primary hypothyroidism through autoimmune thyroiditis Campinas, Sao Paulo, Brazil 										
125841		liver transplant	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Araujo, M. B.  et al. 2004	15194331				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Transplantation proceedings. 2004 May;36(4):953-5	Development of donor-specific microchimerism in liver transplant recipient with HLA-DRB1 and -DQB1 mismatch related to rejection episodes.		604305	17398	2	2004	These results suggest that the presence of microchimerism may be associated with acceptance, tolerance and survival of the allograft.	Cohort 32 liver transplant recipients 										
125842		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rani, R.  et al. 2004	15245369				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Aug;64(2):145-55	Molecular basis of predisposition to develop type 1 diabetes mellitus in North Indians.		604305	17399	2	2004	Thus, the two independently assorting alleles at two loci i.e., DRB1*0301 and INS-VNTR class I, on two different chromosomes may have the potential to predict a prediabetic in North India.	Case:110 type 1 diabetes patients North India;Control:112 healthy controls										
125843	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Van Gaalen, F. A.  et al. 2004	15248208				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Arthritis and rheumatism. 2004 Jul;50(7):2113-21	Association between HLA class II genes and autoantibodies to cyclic citrullinated peptides (CCPs) influences the severity of rheumatoid arthritis.		604305	17400	2	2004	 HLA class II RA susceptibility alleles are associated with production of anti-CCP antibodies. Moreover, more severe disease progression is found in RA patients with both anti-CCP antibodies and SE alleles.	Cohort 268 rheumatoid arthritis patients Leiden, Belgium 										
125838		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Buzzetti, R.  et al. 2004	15037989				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Diabetes. 2004 Mar-Apr;20(2):137-43	Genetic prediction of type 1 diabetes in a population with low frequency of HLA risk genotypes and low incidence of the disease (the DIABFIN study).		604305	17394	2	2004	 Risk classification must be tailored to the characteristics of the individual population, in particular, the allelic frequencies in the background population and T1DM prevalence. We have developed a screening strategy with good levels of sensitivity that should prove effective for use throughout the Italian peninsula.	Case:356 type 1 diabetic patients:Italy;Control:412:controls										
125840	Y	liver disease	OTHER	OTH	Hepatitis, Toxic	6	6p21.3	HLA-DQB1	32735641	32742374		Andrade, R. J.  et al. 2004	15185301				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Hepatology (Baltimore, Md). 2004 Jun;39(6):1603-12	HLA class II genotype influences the type of liver injury in drug-induced idiosyncratic liver disease.		604305	17397	2	2004	However, the genetic influence associated with HLA class II alleles appears to play a role in the biochemical expression of liver injury in cholestatic/mixed hepatotoxicity and may explain why a given drug may cause different patterns of	Case:140 patients with a definitive or probable diagnosis of drug-induced idiosyncratic liver disease;Control:635 volunteer bone marrow and blood donors										
125835		diabetes, type 1	IMMUNE	IMM	Enterovirus Infections|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Marttila, J.  et al. 2004	14967485				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Virology. 2004 Feb;319(1):27-35	Epitopes recognized by CBV4 responding T cells:effect of type 1 diabetes and associated HLA-DR-DQ haplotypes.		604305	17391	2	2004	Only few epitopes were exclusive recognized by T cells from diabetic children, and in each case only one or two T-cell lines were responding.	Cohort 29/23 healthy children with type 1 diabetes risk-associated HLA genotypes (n=29) and children with type 1 diabetes (n=23) 										
125836		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Kukko, M.  et al. 2004	14988284				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish	Finland	CDC GDPinfo	3119	Hs.409934			Diabetes care. 2004 Mar;27(3):676-81	Geographical variation in risk HLA-DQB1 genotypes for type 1 diabetes and signs of beta-cell autoimmunity in a high-incidence country.		604305	17392	2	2004	 These data show that in Finland, the country with the highest incidence of type 1 diabetes in the world, both the frequency of the high-risk HLA-DQB1 genotype and the risk of seroconversion to autoantibody positivity show geographical variation. The difference in seroconversion rate could not be explained by the difference in HLA-DQB1-defined disease susceptibility, implying that the impact of environmental triggers of diabetes-associated autoimmunity may differ between the three regions studied.	Cohort 4,642 children with increased HLA-DQB1-defined genetic risk of type 1 diabetes from the Diabetes Prediction and Prevention (DIPP) study Finland 										
125837		lupus erythematosus; antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Freitas, M. V.  et al. 2004	14995006				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Lupus. 2004 ;13(2):125-31	Is HLA class II susceptibility to primary antiphospholipid syndrome different from susceptibility to secondary antiphospholipid syndrome?		604305	17393	2	2004	Taken together, these results indicate that the association of SAPS with HLA-DRB1*03 is due to the association with SLE and is not due to aCL, and suggest that the HLA class II profile of PAPS is different from that of SAPS.	Case:123 patients with secondary antiphospholipid syndrome;Control:166:controls										
125832	Y	rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Choreatic Disorders|Chorea|Aortic Valve Insufficiency|Mitral Valve Insufficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Stanevicha, V.  et al. 2003	14680508				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Latvia	CDC GDPinfo	3119	Hs.409934			Arthritis research & therapy. 2003 ;5(6):R340-6	HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia.		604305	17387	2	2003	Genotyping control showed a high risk of RF and RHD in patients with DRB1*01-DQB1*0301-DRB1*07-DQB1*0302 and DRB1*15-DQB1*0302-DRB1*07-DQB1*0303.	Control:100 healthy individuals;Case:70 rheumatic feber patients under the age of 18:Latvia										
125833		azoospermia	REPRODUCTION	REP	Oligospermia|Chromosome Deletion	6	6p21.3	HLA-DQB1	32735641	32742374		Takao, T.  et al. 2004	14718045				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDPinfo	3119	Hs.409934			International journal of andrology. 2004 Feb;27(1):37-41	Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Ychromosome microdeletion and spermatogenesis		604305	17389	2	2004	While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermatogenic impairment.	Cohort non-obstructive azoospermia Japanese patients 										
125834		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Carvalho, A.  et al. 2003	14762600				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Arquivos de neuro-psiquiatria. 2003 Dec;61(4):968-73	[Determination of autoantibody for myelin antigens in the serum of patients HLA-DQB1*0602 with multiple sclerosis]		604305	17390	2	2003	Our results suggest that other HLA class II alleles may be conferring susceptibility to MS in this population and influencing the pattern of immune recognition of encephalitogen antigens. Furthermore, distinct IgG and/or IgA autoantibody production may be contributing to the control or maintenance of the CNS inflammatory reaction.	Case:26 multiple sclerosis patients;Control:54 healthy individuals										
125829		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Oksenberg, J. R.  et al. 2003	14669136				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African Americans	United States	CDC GDPinfo	3119	Hs.409934			American journal of human genetics. 2004 Jan;74(1):160-7	Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.		604305	17384	2	2003	This finding is unlikely to be solely explained by admixture, since a substantial proportion of the susceptibility chromosomes from African American patients with MS displayed haplotypes consistent with an African origin.	Case African American multiple sclerosis patients;Control:controls										
125830	Y	diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cerna, M.  et al. 2003	14675393				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Czech	Czech Republic	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2003 Dec;30(6):401-7	HLA in Czech adult patients with autoimmune diabetes mellitus: comparison with Czech childrenwith type 1 diabetes and patients with type 2 diabetes.		604305	17385	2	2003	We conclude that  the presence of predisposing DQB1 alleles in adults with type 1 diabetes decreases with the age, probably due to environmental factors. Only the DRB1*03, but not the DQB1 gene, becomes the main predisposing allele in LADA patients. These findings suggest that the presence of HLA-DQB1*0302 identifies patients at high risk of requiring insulin treatment. Type 1 diabetes mellitus (DM) in children or adults may have partly different immunogenetic etiopathogenesis than LADA.	Control:controls;Case:80/70/131 type 1 diabetic adults (n=80), latent autoimmune diabetic adults (n=70) and type 2 diabetics (n=131)										
125826		malaria	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Shanmugalakshmi, S.  et al. 2003	12823769				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	South Indian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Jun;61(6):451-64	HLA-DRB1*, -DQB1* in Piramalai Kallars and Yadhavas, two Dravidian-speaking castes of Tamil Nadu, South India.		604305	17379	2	2003	The study suggested that South Indian, inbred, endogamous, sympatrically isolated castes or similar well-defined breeding isolates around the world, living under the same milieu-epidemiology, may be ideal models to test the immunogenetic basis of disease susceptibility.	Cohort 205/239/84 Two Dravidian-speaking castes of Tamil Nadu, Piramalai Kallars (PKs, n = 205) and Yadhavas (YDs, n = 239) and a random panel (84) South India 										
125827	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Torio, A.  et al. 2003	12878360				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Aug;64(8):811-5	HLA class II genotypic frequencies in atopic asthma: association of DRB1*01-DQB1*0501 genotypewith Artemisia vulgaris allergic asthma.		604305	17380	2	2003	The results reveal that the DRB1*01-DQB1*0501 genotype is strongly associated with a positive response to Artemisia vulgaris in the population studied.	Control:150:controls;Case:213 atopic asthmatic patients		HLA-class II	DRB1*01	HLA-class II	DQB1*0501			Y	Artemisia vulgaris	allergic asthma
125828		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Common Variable Immunodeficiency	6	6p21.3	HLA-DQB1	32735641	32742374		Freiberger, T.  et al. 2001	14655281				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Cas Lek Cesk. 2001 Dec;140(24):770-3	[Role of aspartic acid at position 57 of the HLA-DQ beta chain in sporadic and familial forms of selective IgA deficiency]		604305	17382	2	2001	 The protective effect of non-aspartic acid at position 57 of the DQ beta chain is present in both sporadic and familial form of IgAD. This effect was not observed in IgAD relatives of CVID persons showing that a genetic background of this form might be different than in other forms of IgAD.	Control:162 control persons;Case:59/28 patients with sporadic (n=59) and patients with familial forms (n=28) of IgAD										
125823		diabetes, type 1	IMMUNE	IMM	Enterovirus Infections|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Craig, M. E.  et al. 2003	12721936				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2003 May;187(10):1562-70	Reduced frequency of HLA DRB1*03-DQB1*02 in children with type 1 diabetes associated with enterovirus RNA.		604305	17375	2	2003	These results suggest that there is a subgroup of patients with T1DM, who are at low genetic risk, in whom enteroviruses contribute to diabetes onset.	Control:160 healthy control children;Case:206 consecutively diagnosed children with type 1:diabetes										
125824		myasthenia gravis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Kuffner, T.  et al. 2003	12770797				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African American		CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Jun;64(6):639-47	HLA class II and TNF genes in African Americans from the Southeastern United States: regionaldifferences in allele frequencies		604305	17376	2	2003	These varying major histocompatibility complex gene frequencies may reflect different regional population structures among AAs in the United States, which may be due to differences in ancestral origins, migration, and racial admixture.	Cohort 112 healthy, unrelated African Americans (AAs) southeastern United States 										
125825		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Geranton, S.  et al. 2003	12820696				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		France	CDC GDPinfo	3119	Hs.409934			Genetic testing. 2003 ;7(1):12-Jul	High-risk genotype for type 1 diabetes: a newsimple microtiter plate-based ELOSA assay.		604305	17378	2	2003	Interestingly, clear T1D-associated genotyping results have been observed when using DNA samples extracted from dried blood spots, making it possible to envisage such genotyping in geographically dispersed affected families, for large-scale newborn screening, and for the inclusion of high-risk patients in clinical trials aimed at preventing the disease.	Cohort 128 type 1 diabetic patients Rhone-Alpes area 										
125820	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Al-Hussein, K. A.  et al. 2003	12648278				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Saudi Arabia	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2003 Apr;30(2):115-9	HLA-DPB1*0401 is associated with dominant protection against type 1 diabetes in the general Saudi population and in subjects with a high-risk DR/DQ haplotype.		604305	17371	2	2003	This finding supports the hypothesis that protective HLA class II genes can override the risk conferred by HLA-DQ susceptibility alleles. Further studies using larger cohorts of control subjects and patients should be undertaken to confirm this observation.	Case Saudi insulin-dependent diabetes mellitus patients;Control:controls										
125822		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Quelvennec, E.  et al. 2003	12694585				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Martinique	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Feb;61(2):166-71	Genetic and functional studies in multiple sclerosis patients from Martinique attest for a specific and direct role of the HLA-DR locus in the syndrome.		604305	17373	2	2003	On the whole, our results show a prominent role of the DRB1 locus (DRB1*1501 and/or DRB1*1503 alleles) in the immunodominant MBP 85-99 peptide presentation to genetically different MS patients and suggest a neutral role of the DQB1 encoded molecule in MS susceptibility.	Control:100:controls;Case:55 multiple sclerosis patients:Martinique										
125817	Y	glutamic acid decarboxylase antibodies	METABOLIC	MET	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann, R.  et al. 2003	12507826				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian	Hungary	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Jan;64(1):152-5	Prevalence and HLA association of GAD65 antibodies in Hungarian schoolchildren.		604305	17368	2	2003	In conclusion, the prevalence of GADA in the Hungarian general population is in the middle of the range found in other Caucasian ethnic groups. Individuals carrying HLA DR3-DQ2 haplotype and females were more prone to develop GADA. We suggest that for future screening programs it is important to determine predictive value of islet-cell antibodies in populations with varying disease incidence.	Cohort 2,664 healthy Jungarian schoolchildren 										
125818	Y	sleepwalking	OTHER	OTH	Somnambulism|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lecendreux, M.  et al. 2003	12556916				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Molecular psychiatry. 2003 Jan;8(1):114-7	HLA and genetic susceptibility to sleepwalking		604305	17369	2	2003	Thus, together with narcolepsy and REM sleep behavior disorder, these findings suggest that specific DQB1 genes are implicated in disorders of motor control during sleep.	Case:60 Caucasian subjects with sleepwalking disorder and their families;Control:60 ethnically matched subjects without any diagnosed sleep disorder										
125819	Y	pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DQB1	32735641	32742374		Zhou, S.  et al. 2003	12579512				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):79-81	[Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]		604305	17370	2	2003	 The results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans.	Case Chinese Han patients with pemphigus vulgaris Jiangsu and Anhui provinces;Control matched controls										
125814	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Plesner, A.  et al. 2002	12410803				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Scandinavian journal of immunology. 2002 Nov;56(5):522-9	Macrophages from high-risk HLA-DQB1*0201/*0302 type 1 diabetes mellitus patients are hypersensitive to lipopolysaccharide stimulation.		604305	17364	2	2002	These data suggest that macrophages from DQB1*0201/*0302 type 1 diabetes patients are sensitized to secrete both cytokines and PGE-2 following nonantigenic stimulation. Sensitized macrophages may be important to high-risk DQB1*0201/*0302-associated type 1 diabetes.	Case type 1 diabetes mellitus patients hetero- or homozygous for HLA DQB1*0201 and *0302;Control healthy controls homozygous for HLA DQB1*0602 and first degree relatives of type 1 diabetics										
125815	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Madeleine, M. M.  et al. 2002	12447731				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2002 Dec;186(11):1565-74	Human leukocyte antigen class II and cervical cancer risk: a population-based study.		604305	17366	2	2002	These results add to the evidence that certain HLA class II alleles or allele combinations, or genes linked to them, make some women more susceptible to SCC.	Case:315 women with invasive squamous cell cervical cancer;Control:381 control subjects		HLA-DRB1	*0401	HLA-DQB1	*0301	HLA-DRB1	*1101	Y	human papillomavirus infection	cervical cancer risk
125816		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Pascual, M.  et al. 2002	12455817				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDPinfo	3119	Hs.409934			Scandinavian journal of rheumatology. 2002 ;31(5):275-8	HLA haplotypes and susceptibility to rheumatoid arthritis. More than class II genes.		604305	17367	2	2002	The present results along with data from others prove the existence of a second predisposing locus located inside the MHC region, and suggest that might be located within the TNFa-HLA-B region.	Case:147 Spanish rheumatoid arthritis patients;Control:202:controls		HLA	DQB1*0201-DRB1*0301-D6S1014*143-D6S273*139-D6STNFa*99-MIB*350-C1-2-5*196 haplotype	TNFa	HLA-B region			Y		rheumatoid arthritis
125811		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kimpimaki, T.  et al. 2002	12364437				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish		CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2002 Oct;87(10):4572-9	Natural history of beta-cell autoimmunity in young children with increased genetic susceptibility to type 1 diabetes recruited from the general population.		604305	17361	2	2002	These results suggest that IAA are characterized by high sensitivity, early appearance, and high frequency of transient antibody positivity, whereas ICA detected with a thoroughly standardized assay appear to be more specific for the screening of beta-cell autoimmunity in young children with increased genetic susceptibility to type 1 diabetes in the Finnish population, which has the highest incidence of type 1 diabetes in the world.	Cohort 12170 newborn infants 										
125813		narcolepsy; cataplexy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy	6	6p21.3	HLA-DQB1	32735641	32742374		Krahn, L. E.  et al. 2002	12405608				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Sleep. 2002 Nov;25(7):733-6	Hypocretin (orexin) levels in cerebrospinal fluid of patients with narcolepsy: relationship tocataplexy and HLA DQB1*0602 status.		604305	17363	2	2002	 This data confirms the previous finding that undetectable hypocretin-1 levels are highly specific for HLA positive narcolepsy with cataplexy. The data suggests that the pathophysiology and, by extension, etiology of this disorder are distinctly different from the other conditions studied. The relationship of the DQB1*0602 allele and reduced hypocretin-1 levels needs further study.	Control:15 neurologic controls;Case:26 patients with narcolepsy										
125808		myopathy, idiopathic inflammatory	IMMUNE	IMM	Myositis|Dermatomyositis	6	6p21.3	HLA-DQB1	32735641	32742374		Shamim, E. A.  et al. 2002	12124873				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian	Guatemala|Mexico|United States	CDC GDPinfo	3119	Hs.409934			Arthritis and rheumatism. 2002 Jul;46(7):1885-93	Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians:ethnogeographic influences in the genetics and clinical expression of myositis.		604305	17356	2	2002	 IIM in Mesoamerican Mestizos differs from IIM in North American Caucasians in the frequency of phenotypic features and in the immune-response genes predisposing to and protecting from myositis and anti-Mi-2 autoantibodies at 4 chromosomal loci. These and other data suggest the likelihood that the expression of IIM is modulated by different genes and environmental exposures around the world.	Cohort 138/287 Mestizos with IIM (n=138) and Caucasians with IIM (n=287) 										
125810	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Syndrome|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Sato, H.  et al. 2002	12356573				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain|Netherlands	CDC GDPinfo	3119	Hs.409934			American journal of respiratory cell and molecular biology. 2002 Oct;27(4):406-12	HLA-DQB1*0201: A Marker for Good Prognosis inBritish and Dutch Patients with Sarcoidosis		604305	17360	2	2002	In conclusion, this study shows that DQB1*0201 is a strong marker for mild sarcoidosis. Additional mapping across the DQB1*0201-DRB1*0301 haplotype, including specific alleles at genes such as DRB3, tumor necrosis factor, lymphotoxin-alpha, I-kappa-B-like protein, and B-associated transcript 1, is necessary for a final localization of the protective effect on this haplotype.	Case:133/102 UK (n=133) and Dutch (n=102) sarcoidosis patients;Control:354/214 UK (n=354) and Dutch (n=214) controls										
125806	Y	cervical cancer	INFECTION	INF	Papillomavirus Infections|Tumor Virus Infections|Cervical Intraepithelial Neoplasia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lie, A. K.  et al. 1999	12090587				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Norway	CDC GDPinfo	3119	Hs.409934			International journal of gynecological pathology. 1999 Jul;18(3):206-10	Association between the HLA DQB1*0301 gene and human papillomavirus infection in high-grade cervical intraepithelial neoplasia.		604305	17354	2	1999	Women carrying the HLA-DQB1*0301 allele have an increased risk of developing cervical intraepithelial neoplasia when infected by HPV 16, although there was not an increased frequency of recurrent disease among women carrying this allele.	Case:170 biopsy specimens with diagnoses of cervical intraepithelial neoplasia II (n = 54) or cervical intraepithelial neoplasia III (n = 116);Control:213 women without cervical intraepithelial neoplasia	human papillomavirus									
125807		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Zalloua, P. A.  et al. 2002	12107223				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3192-6	Type-2 diabetes family history delays the onset of type-1 diabetes.		604305	17355	2	2002	Our genetic analysis results show that in the patients studied, 77% and 40% were positive for BQ1*0201 and BQ1*0302, respectively. As for BQ1*0602, only 0.8% of patients were positive for this T1D protective allele, compared with 24% among the controls. Furthermore, our results did not show any gender preference of the disease or any effects of early intake of cow's milk on the age at onset of T1D. When family history of T2D or T1D was studied, our results show a novel finding whereby an immediate family history of T2D, but not T1D, delays the age at onset of T1D.	Cohort 253 Lebanese Caucasian patients with type 1 diabetes 	cow`s milk									
125802	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wu, M. S.  et al. 2002	11985790				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Taiwanese	Taiwan	CDC GDPinfo	3119	Hs.409934			Japanese journal of cancer research. 2002 Apr;93(4):404-10	Association of HLA-DQB1*0301 and HLA-DQB1*0602 with different subtypes of gastric cancer in Taiwan.		604305	17350	2	2002	In conclusion, HLA-DQB1(*)0602 confers suscepti-bility to gastric cancer, especially for male Taiwanese and proximal tumor location, while HLA-DQB1(*)0301 may have a protective effect on GC, probably through resistance to Helicobacter pylori infection. HLA-DQB1 alleles are associated with susceptibility or resistance to GC and also influence its clinical features.	Case:106 Taiwanese patients with gastric cancer:Taiwan;Control:208 healthy controls	Helicobacter pylori									
125803		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sirikong, M.  et al. 2002	12028537				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai	Thailand	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Feb;59(2):113-7	Association of HLA-DRB1*1502-DQB1*0501 haplotype with susceptibility to systemic lupus erythematosus in Thais.		604305	17351	2	2002	Taken together with the previous report which demonstrated the association of the same haplotype in Taiwan, our present observations strongly suggested that DRB1*1502 - DQB1*0501 is the major HLA haplotype that confers susceptibility to SLE in the South-east Asian populations.	Case Thai systemic lupus erythematosus patients;Control normal controls										
125804		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.3	HLA-DQB1	32735641	32742374		Hong, S. C.  et al. 2002	12071546				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			Sleep. 2002 Jun;25(4):440-4	HLA and hypocretin studies in Korean patients with narcolepsy.		604305	17352	2	2002	 These results illustrate the similarity of narcolepsy-cataplexy in Korea in comparisons with other more studied populations. We also identified a new potential HLA protective subtype, HLA-DRB1*0406.	Case:20 Korean patients diagnosed with narcolepsy:Korea;Control:21 Korean controls		HLA-DR15	"(DR2), DQB1*0602"	HLA-DRB1	*0406			Y		narcolepsy
125799	Y	myopia	VISION	VIS	Myopia, Degenerative	6	6p21.3	HLA-DQB1	32735641	32742374		Li, S.  et al. 2001	11864433				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Chinese journal of ophthalmology. 2001 Jul;37(4):263-6	[Study on the association of pathologic myopia with HLA-DQB1 gene]		604305	17346	2	2001	 HLA-DQB1 * 0301, * 0303 alleles are susceptible alleles, and possibly they are the pathogenic genes, * 0601, * 0602 are resistant alleles, and may be they possess the protective property.	Control healthy controls;Case:66 patients with pathologic myopia										
125800	Y	diabetes-associated autoantibodies	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kupila, A.  et al. 2002	11872662				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes. 2002 Mar;51(3):646-51	Genetic risk determines the emergence of diabetes-associated autoantibodies in young children.		604305	17347	2	2002	We conclude that  diabetes-associated autoantibodies emerged in children with predisposing HLA-DQB1 alleles after 3 months of age at a constant tempo, determined by the genetic risk level, usually in the order of IAA, GADA, ICA, and IA-2A. Seroconversion to multiple autoantibody positivity usually occurred tightly clustered in time.	Cohort 4590 consecutive newborns with 8 or 3% HLA-DQB1 conferred risk for type 1 diabetes 										
125801		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rubio, J. P.  et al. 2002	11923913				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Tasmania	CDC GDPinfo	3119	Hs.409934			American journal of human genetics. 2002 May;70(5):1125-37	Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.		604305	17349	2	2002	We propose that the analysis of haplotypes, by use of the types of approaches outlined in the present article, should make it possible to more accurately define the contribution of the HLA to MS.	Control:105 unaffected control subjects of Tasmanian ancestry;Case:152 Tasmanian patients with multiple sclerosis		HLA-class I	MOGCA-D6S265	HLA-class II	DRB1-DQB1			Y		multiple sclerosis
125796		birth weight	REPRODUCTION	REP	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease|Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Stene, L. C.  et al. 2001	11723075				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetes. 2001 Dec;50(12):2879-82	Diabetes-associated HLA-DQ genes and birth weight.		604305	17343	2	2001	We found that HLA genotypes previously shown to confer risk for type 1 diabetes were associated with reduced birth weight (the mean difference in birth weight between the DQB1*0602/DQB1*0602 and DQ8/DQ2 genotypes was 354 g [95% CI 105-604]), which was opposite of that expected if HLA genes explained the birth weight-type 1 diabetes association.	Cohort 969 nondiabetic children randomly selected from the Norwegian population Norway 										
125798	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kawabata, Y.  et al. 2002	11812768				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan|Korea	CDC GDPinfo	3119	Hs.409934			Diabetes. 2002 Feb;51(2):545-51	Asian-specific HLA haplotypes reveal heterogeneity of the contribution of HLA-DR and -DQ haplotypes to susceptibility to type 1 diabetes.		604305	17345	2	2002	These data, which indicate that the contribution of HLA haplotypes to the genetic susceptibility to type 1 diabetes differs depending on the genotypic combination of HLA haplotypes, suggest the importance of extensive analysis of genotypes in studies on HLA and disease association in general.	Control:109 Korean control subjects;Case:132 Japanese type 1 diabetic patients;Control:157 Japanese controls subjects;Case:67 Korean type 1 diabetic patients										
125794		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kimpimaki, T.  et al. 2001	11600541				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2001 Oct;86(10):4782-8	The first signs of beta-cell autoimmunity appear in infancy in genetically susceptible children from the general population: the Finnish Type 1 DiabetesPrediction and Prevention Study		604305	17341	2	2001	These observations suggest that young children in the general population with a strong human-leukocyte-antigen-DQ-defined genetic risk of type 1 diabetes show signs of beta-cell autoimmunity proportionally more often than those with a moderate genetic risk. IAA emerge as the first detectable antibody more commonly than any other antibody specificity, implying that insulin may be the primary antigen in most cases of human type 1 diabetes associated with the DR4-DQB1*0302 haplotype. The seasonal variation in the emergence of the first signs of beta-cell autoimmunity suggests that infectious agents may play a role in the induction of such autoimmunity.	Cohort 2448 genetically susceptible children Finland 										
125795		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Ionescu-Tirgoviste, C.  et al. 2001	11724419				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia. 2001 Oct;44 Suppl 3:B60-6	Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes		604305	17342	2	2001	Part of the explanation for the low incidence of Type I diabetes in Romania could be the lower frequency of the DRB1*03 - DQB1*02 and DQB1*0302 susceptibility haplotypes in this country.	Cohort 204 Type I diabetic Romanian families Romania 										
125790		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Pascual, M.  et al. 2001	11345587				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDPinfo	3119	Hs.409934			Immunogenetics. 2001 Mar;53(2):114-8	Distribution of HERV-LTR elements in the 5'-flanking region of HLA-DQB1 and association with autoimmunity.		604305	17334	2	2001	Our results shed new light on the phylogeny of the HLA region and the possible contribution of DQB1 to susceptibility to autoimmunity.	Case:145 rheumatoid arthritis (RA) patients:Spain;Control:200 healthy voluntary blood donors southern Spain										
125791	Y	sclerosis, systemic	OTHER	OTH	Scleroderma, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Kang, S. H.  et al. 2001	11469465				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			The Journal of rheumatology. 2001 Jul;28(7):1577-83	Association of HLA class II genes with systemic sclerosis in Koreans.		604305	17337	2	2001	 HLA-DR gene has a primary association with anti-topo I response, and HLA-DR 38V-67FLEDR71 group alleles including DRB5*0102 (in linkage disequilibrium with DRB1*1502) show the strongest association with anti-topo I response in Korean patients with SSc.	Control:200 healthy control subjects;Case:74 patients with systemic sclerosis										
125792		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Krochik, A. G.  et al. 2001	11474874				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Argentina	CDC GDPinfo	3119	Hs.409934			Medicina. 2001 ;61(3):279-83	Immunologic and genetic markers in insulin-dependent diabetes mellitus (type 1) in an Argentine population		604305	17338	2	2001	Our findings show that the combination of multiple tests increases the sensitivity for prediction, with the ICA512A-GADA combination proving highly sensitive and equivalent to other proposed combinations, such as ICA-IAA-GADA.	Control:68 healthy siblings of the type 1 diabetic cases;Control:79 control children;Case:79 children with type 1 diabetes of recent onset										
125787		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Pascual, M.  et al. 2001	11229460				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Arthritis and rheumatism. 2001 Feb;44(2):307-14	Rheumatoid arthritis in southern Spain: towardelucidation of a unifying role of the HLA class II region in disease predisposition		604305	17330	2	2001	 The low prevalences of RA and of mild disease observed in Spain, and in southern Europe in general, can be explained in great part by the low frequency of DQ3-DR4 haplotypes, especially those carrying DRB1*0401. However, the overall distribution of HLA-DQ and -DR alleles in RA patients compared with control subjects is similar to that in other European and North American populations. A model involving both DQ and DR can best account for the contribution of HLA to RA.	Control:153 healthy controls;Case:160 RA patients										
125788		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zhang, S.  et al. 1998	11245021				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Chinese medical journal. 1998 Aug;111(8):694-7	Contribution of the absence of aspartic acid at position 57 of the HLA-DQ beta chain to predisposition to insulin-dependent diabetes mellitus in a southern Chinese population		604305	17331	2	1998	 The present study suggests that the NA confers the susceptibility to IDDM, while the A confers the protection against IDDM in patients of Southern Chinese origin. These associations are more clearcut in childhood-onset IDDM patients.	Control:47 healthy controls Southern China;Case:69 IDDM patients Southern China										
125785		hepatitis C viral load	INFECTION	INF	Hepatitis C|Viremia	6	6p21.3	HLA-DQB1	32735641	32742374		Fanning, L. J.  et al. 2001	11124840				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Hepatology (Baltimore, Md). 2001 Jan;33(1):224-30	HLA class II genes determine the natural variance of hepatitis C viral load.		604305	17328	2	2001	Our results define an association between the slope of change of viral load and HLA class II haplotype in patients infected with genotype 1b of HCV. This suggests a role for host immunogenetic factors in HCV infection in this homogeneous group.	Cohort 57 viremic (hepatitis C virus [HCV] 1b) women, infected during the period from May 1977 to November 1978 										
125786		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Li, H.  et al. 2001	11158011				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2001 Feb;86(2):574-82	Possible human leukocyte antigen-mediated genetic interaction between type 1 and type 2 Diabetes.		604305	17329	2	2001	We conclude that  type 1 and type 2 diabetes cluster in the same families. A shared genetic background with a patient with type 1 diabetes predisposes type 2 diabetic patients both to autoantibody positivity and, irrespective of antibody positivity, to impaired insulin secretion. The findings support a possible genetic interaction between type 1 and type 2 diabetes mediated by the HLA locus.	Cohort 695 families ascertained through the presence of more than 1 patient with type 2 diabetes 										
125782	N	mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Meddeb-Garnaoui, A.  et al. 2001	11334675				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Mediterranean Region	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		604305	14332	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
125783		insulin; diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Li, H.  et al. 2003	12788886			promoter	Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2767-74	A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A polymorphism predisposes to an insulin-deficient phenotype in patients with type 2 diabetes.		604305	14344	2	2003	In conclusion, TNFalpha is unlikely to be the second gene in the HLA area responsible for our previous findings in type 1/2 patients. However, we could show an association between TNFalpha(308) polymorphism and the phenotype of common type 2 diabetes.	Case type 2 diabetic patients from mixed type 1/2 families or common type 2 diabetic families;Case:126 patients with adult onset type 1 diabetes;Control:284:controls		HLA-DQB1		TNF alpha	-308			Y		Type 2 diabetes
125779		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DQB1	32735641	32742374		Kuwana, M.  et al. 2003	14677183				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of rheumatology. 2003 Nov;30(11):2392-7	HLA class II alleles in systemic sclerosis patients with anti-RNA polymerase I/III antibody:associations with subunit reactivities.		604305	11275	2	2003	 Our results suggest that in patients with SSc, anti-RNAP I/III antibodies are composed of subsets defined by combinations of reactivities to individual RNAP subunits having specific HLA class II correlations.	Case:257 systemic sclerosis patients (129 Japanese and 128:Caucasians);Control:271 race-matched regional controls (138 Japanese and 133 Caucasians)										
125780		diabetes, type 1; Graves' disease; Hashimoto's thryroiditis	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Yang, J. M.  et al. 2005	16005098				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			Diabetes research and clinical practice. 2006 Feb;71(2):164-9	Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: Possible rolein subjects without having high-risk HLA haplotypes.		604305	11681	2	2005												
125781		diabetes, type 1; measles	IMMUNE	IMM	HIV Seropositivity	6	6p21.3	HLA-DQB1	32735641	32742374		Tang, J.  et al. 2001	11250044				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Africa	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Mar;62(3):269-78	Novel alleles at the lymphotoxin alpha (LTalpha) locus mark extended HLA haplotypes in native Africans.		604305	14137	2	2001	These findings suggest a preferential expansion of the human TNFc dinucleotide (CT/AG) repeat sequence and further imply the existence of two extended MHC lineages that have not been disrupted by recombinations.	Cohort 285/319 285 Rwandans and 319 Zambians Rwanda and Zambia 										
125776		Lyme disease	INFECTION	INF	Lyme Disease|Erythema Chronicum Migrans|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wormser, G. P.  et al. 2005	16267776				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2005 Dec;192(11):2020-6	Association between Human Leukocyte Antigen Class II Alleles and Genotype of Borrelia burgdorferi in Patients with Early Lyme Disease.		604305	11252	2	2005	 The DRB1*0101 allele and the DRB1*0101-DQB1*0501 haplotype may be relevant to the development of infection with strains from the least invasive genotypes of B. burgdorferi.											
125777		allergy, latex; latex allergy; pemphigoid, bullous	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Correa, P. A.  et al. 2002	12144632				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Colombian		CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 May;59(5):436-9	HLA-DR and DQB1 gene polymorphism in the North-western Colombian population.		604305	11272	2	2002	The most frequently observed specificities at the DRB1 locus were *07 (16.4%) and *15 (12%), and at the DQB1 locus *02 (18.8%) and *03 (33.6%), of which *0302 was the most prevalent allele (14.3%). The most polymorphic specificities were DRB1*04, 13 and 11, and DQB1*06. Both the HLA-DRB1 and DQB1 loci were in linkage disequilibrium.	Cohort 100 unrelated healthy individuals from an area in north-west Colombia (Medellin) north-west Colombia (Medellin) 										
125778		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Carrington, C. V.  et al. 2002	12392858				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Trinidadian		CDC GDPinfo	3119	Hs.409934			Human immunology. 2002 Nov;63(11):1045-54	A comparison of HLA-DR and -DQ allele and haplotype frequencies in Trinidadian populations of African, South Asian, and mixed ancestry		604305	11273	2	2002	Trinidad South Asians displayed similar allele frequencies and associations to other populations from Northern India.	Cohort 75/98/102 individuals of African (n = 75), South Asian (n = 98), and mixed (n = 102) ancestry Trinidad 										
125773		pneumoconiosis	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Fan, X. Y.  et al. 2005	16188098				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Aug;23(4):278-81	[Relationship between pneumoconiosis and the polymorphisms of HLA-DRB1*, DQB1* genes]		604305	11249	2	2005	 HLA-DRB1*08 allele may be the susceptible risk gene for pneumoconiosis. HLA-DQB1*06 may be the protective gene against developing pneumoconiosis.											
125774	Y	urticaria	OTHER	OTH	Urticaria|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Chen, J.  et al. 2005	16201295				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of Huazhong University of Science and Technology Medical sciences. 2005 ;25(3):354-6	Association of HLA-DRB1, DQB1 alleles with chronic urticaria.		604305	11250	2	2005												
125775		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kinikli, G.  et al. 2005	16245224				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Turkish journal of gastroenterology. 2005 Sep;16(3):143-146	Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial mediterranean fever (FMF) patients.		604305	11251	2	2005	Our results indicate a relationship between some HLA-DR/DQ alleles and MEFV mutations in Mediterranean fever patients. We suggest HLA-DR/DQ alleles and their role in the pathogenesis of Mediterranean fever need further analysis and comparative studies.											
125770		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DQB1	32735641	32742374		Takakuwa, K.  et al. 2005	16122986				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese		CDC GDPinfo	3119	Hs.409934			Clinical immunology (Orlando, Fla). 2006 Jan;118(1):101-7	Molecular genetic studies on the compatibility of HLA class II alleles in patients with unexplained recurrent miscarriage in the Japanese population.		604305	11246	2	2005												
125771		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DQB1	32735641	32742374		Ndung'u, T.  et al. 2005	16148166				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Botswana	CDC GDPinfo	3119	Hs.409934			Clinical and diagnostic laboratory immunology. 2005 Sep;12(9):1020-8	Major histocompatibility complex class II (HLA-DRB and -DQB) allele frequencies in Botswana:association with human immunodeficiency virus type 1 infection.		604305	11247	2	2005												
125772		hepatitis C	INFECTION	INF	Hepatitis C|Cryoglobulinemia	6	6p21.3	HLA-DQB1	32735641	32742374		Sebastiani, G. D.  et al. 2005	16180280				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Journal of biological regulators and homeostatic agents. 2005 Jan-Jun;19(2-Jan):17-22	Association of extrahepatic manifestations with HLA class II alleles and with virus genotype in HCV infected patients.		604305	11248	2	2005												
125767		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia	6	6p21.3	HLA-DQB1	32735641	32742374		Beskow, A. H.  et al. 2005	15906352				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			International journal of cancer. Journal international du cancer. 2005 Nov;117(3):510-4	HLA class II allele control of HPV load in carcinoma in situ of the cervix uteri.		604305	11241	2	2005	This provides further evidence that the HLA class II-mediated immune response to HPV is important for controlling viral load and outcome of an infection.	Case:484 cervical carcinoma cases;Control:601:controls	human papillomavirus									
125768		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Al-Jenaidi, F. A.  et al. 2005	15985473				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Bahrain|Lebanon	CDC GDPinfo	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5104-9	Contribution of selective HLA-DRB1/DQB1 alleles and haplotypes to the genetic susceptibility of type 1 diabetes among Lebanese and Bahraini Arabs.		604305	11243	2	2005	 In view of these differences between Bahraini and Lebanese, this demonstrates that the contribution of HLA class II to the genetic susceptibility to T1D must be evaluated with regard to specific HLA haplotypes and also ethnic origin and racial background.											
125769		H. pylori infection; thrombocytopenic purpura, idiopathic	INFECTION	INF	Helicobacter Infections|Purpura, Thrombocytopenic, Idiopathic	6	6p21.3	HLA-DQB1	32735641	32742374		Veneri, D.  et al. 2005	16011982				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Platelets. 2005 Aug;16(5):307-11	Analysis of B- and T-cell clonality and HLA class II alleles in patients with idiopathic thrombocytopenic purpura: correlation withHelicobacter pylori infection and response to eradication treatment.		604305	11244	2	2005			bacterium eradication Helicobacter pylori									
125764		liver cancer; lymphoma	CANCER	CAN	Hepatitis C|Lymphoma, B-Cell|Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		De Re, V.  et al. 2004	15556690				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Nov;65(11):1397-404	Hepatitis C virus-related hepatocellular carcinoma and B-cell lymphoma patients show a different profile of major histocompatibility complex class II alleles.		604305	11232	2	2004	These data suggest that NHL and HCC development may be associated to a different response with respect to chronic HLA class II-restricted antigen presentation (perhaps a switch toward CD4+Th2 response in NHL?) or, alternatively, that these alleles could be in linkage disequilibrium to unrelated gene(s), or are in synergy with other immunomodulatory genes that may confer increased risk for NHL.	Control:144 hospitalized patients without NHL or HCC;Case:50/29 patients with HCV-associated non-Hodgkin's lymphoma (n=50) and patients with HCV-associated hepatocellular carcinoma (n=29)										
125765		Vogt-Koyanagi-Harada's disease	IMMUNE	IMM	Uveomeningoencephalitic Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Levinson, R. D.  et al. 2004	15603876				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		California	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Dec;65(12):1477-82	HLA-DRB1 and -DQB1 alleles in mestizo patients with Vogt-Koyanagi-Harada's disease in Southern California.		604305	11233	2	2004	This study is the first to identify a possible association between HLA-DRB1*0404 and VKH disease, as well as to find DRB1*0102 and DRB1*0410 in Mestizo patients.	Control Mestizo individuals;Case:29 Mestizo individuals with Vogt-Koyanagi-Harada's:disease Southern California										
125766		macular degeneration	VISION	VIS	Macular Degeneration	6	6p21.3	HLA-DQB1	32735641	32742374		Goverdhan, S. V.  et al. 2005	15851575				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Investigative ophthalmology & visual science. 2005 May;46(5):1726-34	Association of HLA class I and class II polymorphisms with age-related macular degeneration.		604305	11240	2	2005	 Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function.	Control:100 subsequent controls from the same cohort;Case:100 subsequent cases from the same cohort;Case:100 age-related macular degeneration cases;Control:92 control subjects										
125761		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Marrosu, M. G.  et al. 2004	15452304				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Neurology. 2004 Sep;63(6):1084-6	Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis.		604305	11229	2	2004		Cohort 1,097 multiple sclerosis patients from a Sardinian cohort Sardinia 										
125762		pregnancy loss, recurrent; rhinitis	REPRODUCTION	REP		6	6p21.3	HLA-DQB1	32735641	32742374		Wen, G.  et al. 2004	15476187				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):522-3	[Analysis of HLA-DRB1,DQB1 allele polymorphism in the Kunming Yi nationality population]		604305	11230	2	2004	 The distribution of HLA-DRB1, DQB1 allele polymorphism in the Kunming Yi nationality population is distinctive. It is neither like that in the South Han population nor like that in the North Han population.	Cohort 70 healthy children of Yi nationality Kunming, China 										
125763	Y	coronary artery ectasia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Dilatation, Pathologic	6	6p21.3	HLA-DQB1	32735641	32742374		Akdemir, R.  et al. 2004	15529553				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Acta cardiologica. 2004 Oct;59(5):499-502	HLA-DR B1 and DQ B1 polymorphisms in patients with coronary artery ectasia.		604305	11231	2	2004	 HLA-DR B1*13, DR16, DQ2 and DQ5 may be associated with the pathogenesis and increase the risk of CAE.	Case:26 patients with coronary artery ectasia without associated cardiac defect;Control:95 healthy subjects who were donors for different organ transplantations										
125758		recurrent respiratory papillomatosis	OTHER	OTH	Papilloma|Respiratory Tract Neoplasms|Neoplasm Recurrence, Local	6	6p21.3	HLA-DQB1	32735641	32742374		Bonagura, V. R.  et al. 2004	15336778				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African American		CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Aug;65(8):773-82	HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis		604305	11226	2	2004	Larger studies are needed to identify other class II major histocompatibility complex alleles that may influence disease predisposition, disease severity, or both, especially in African-American patients, to ultimately illuminate the regulatory effects of these alleles in the predisposition and severity of RRP.	Control:controls;Case:70 randomly selected patients (56 Caucasians and 14 African-Americans) with recurrent respiratory:papillomatosis										
125759		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Almawi, W. Y.  et al. 2004	15350494				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Transplantation proceedings. 2004 Jul-Aug;36(6):1844-6	Distribution of HLA class II (DRB1/DQB1) alleles and haplotypes among Bahraini and Lebanese Arabs		604305	11227	2	2004	Our results underline significant differences between these two populations in HLA class II distribution, and provide basic information for further studies of MHC heterogeneity among Arab-speaking countries, and as a reference for further anthropologic studies.	Cohort 90/52 Lebanese (n=90) and Bahraini Arabs (n=52) 										
125760		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hrycek, A.  et al. 2004	15449022				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rheumatology international. 2005 Nov;26(1):6-Jan	HLA-DRB1 and -DQB1 alleles and gene polymorphisms of selected cytokines in systemic lupus erythematosus.		604305	11228	2	2004	These data indicate that this combination could contribute toward determining the susceptibility to SLE, but its possible significance will require confirmation by further studies.	Case:24 Cauacasian systemic lupus erythematosus patients Upper Silesia;Control:36 healthy controls										
125756	Y	lymphoma	CANCER	CAN	Lymphoma|Hodgkin Disease|Lymphoma, Non-Hodgkin	6	6p21.3	HLA-DQB1	32735641	32742374		Al-Tonbary, Y.  et al. 2004	15203870				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Egypt	CDC GDPinfo	3119	Hs.409934			Hematology (Amsterdam, Netherlands). 2004 Apr;9(2):139-45	HLA class II polymorphism in Egyptian children with lymphomas.		604305	11224	2	2004	 (1) The susceptibility to NHL is related to HLA-DRB1 *0403 and *1301 and HLA-DQB1 *0501,* 0201 and *0301. (2) The susceptibility to HD is related to HLA-DRB1 *0403 and *1202 and HLA-DQB1 *0604, *0201 and *0203. (3) HLA-DRB1 *1302 and HLA-DQB1 *0502 and *0602 may confer protection to NHL. (4) Different HLA alleles may have a role in patients with both groups of lymphoma and further study is needed to better define the possible prognostic value of different HLA associations in patients with lymphomas regarding increased risk in the presence of certain HLA alleles and the possibility for treatment modifications in the future based on the presence or absence of certain HLA alleles.	Control:121/59 unrelated healthy subjects for DRB1 alleles (n=121) and unrelated healthy subjects for DQB1 alleles:(n=59);Case:30 children with lymphoma										
125757		lymphoma	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Almawi, W. Y.  et al. 2004	15242955				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and diagnostic laboratory immunology. 2004 Jul;11(4):770-4	HLA class II profile and distribution of HLA-DRB1 and HLA-DQB1 alleles and haplotypes among Lebanese and Bahraini Arabs.		604305	11225	2	2004	Our results underline significant differences between these two populations in HLA class II distribution, provide basic information for further studies of major histocompatibility complex heterogeneity among Arabic-speaking countries, and serve as a reference for further anthropological studies.	Cohort 95/72 healthy Lebanese Arab (n=95) and healthy Bahraini Arab (n=72) subjects 										
125753		lymphoma	CANCER	CAN	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Galgani, A.  et al. 2004	15120192				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Apr;65(4):366-72	HLA class II typing in newborns reveals a low frequency of the DRB1*04 allele and a high frequency of DRB1*11 allele in three regions of continental Italy.		604305	11221	2	2004	These findings furnish a genetic "portrait" of the populations of the analyzed regions that will be useful not only for investigation of the genetic risk of type 1 diabetes mellitus in Italy but also for studies of other autoimmune diseases related to HLA genotypes.	Cohort 3,607 newborns Lombardia, Liguria, and Lazio, Italy 										
125754	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Haider, M. Z.  et al. 2004	15149287				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African American		CDC GDPinfo	3119	Hs.409934			Psychiatry and clinical neurosciences. 2004 Jun;58(3):236-9	Human leukocyte antigen-DQB1 alleles are not associated with schizophrenia in Kuwaiti Arabs.		604305	11222	2	2004	The DQB1*0602 allele, which has been negatively associated in African-Americans in previous reports, was not detected in the present Kuwaiti schizophrenia patients or controls.	Control:114 ethnically matched healthy controls;Case:81 Kuwaiti Arab schizophrenic patients										
125755		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Luongo, V.  et al. 2004	15191529				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Jul;64(1):84-7	HLA allele frequency and clinical outcome in Italian patients with cutaneous melanoma.		604305	11223	2	2004	In a 3-year follow-up study, results showed significant differences between groups of patients selected according to clinical stage, histology, and progression of the disease.	Control:203 ethnically matched controls;Case:382 Italian cutaneous melanoma patients										
125750	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Vyakarnam, A.  et al. 2004	15096192				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Immunology. 2004 May;112(1):136-42	Possession of human leucocyte antigen DQ6 alleles and the rate of CD4 T-cell decline in human immunodeficiency virus-1 infection.		604305	11218	2	2004	Our results highlight the potential protective effect of HLA DQB1*06 alleles on the course of HIV disease.	Cohort 46/87/26 HIV-1 infected long-term non-progressors (n=46), intermediate progressors (n=87) and rapid progressors (n=26) 										
125751		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Tang, J.  et al. 2004	15116308				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Zambian	Zambia	CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2004 May;189(9):1696-704	HLA-DRB1 and -DQB1 alleles and haplotypes in Zambian couples and their associations with heterosexual transmission of HIV type 1.		604305	11219	2	2004	Overall, associations of HLA class II polymorphisms with both HIV transmission and acquisition are not as readily interpretable as are effects reported for other loci.	Cohort 292 initially human immunodeficiency virus (HIV)-1-serodiscordant and cohabiting Zambian couples 										
125752		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Garavito, G.  et al. 2004	15120191				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Colombian	Colombia	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Apr;65(4):359-65	HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos.		604305	11220	2	2004	Our results suggest that studies of disease susceptibility in populations of admixed genetic background should take into account the contribution of different ethnic groups or nationalities in the recruitment of controls and patients studied in order to rule out genetic stratification.	Case:65 patients with juvenile rheumatoid arthritis:Colombia;Control:65:controls										
125747	Y	glomerulonephritis, Hepatitis B virus-associated	IMMUNE	IMM	Glomerulonephritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Park, M. H.  et al. 2003	14617034				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2003 Dec;62(6):505-11	Two subtypes of hepatitis B virus-associated glomerulonephritis are associated with different HLA-DR2 alleles in Koreans.		604305	11215	2	2003	These results suggest that HLA-DR or related genetic factor is associated with disease susceptibility to HBV-GN in Koreans, and different pathologic subtypes of HBV-GN are influenced by the genetic factors of the patients.	Control:100/89 HBsAg (-) healthy controls (n=100) and chronic HBV infected individuals (n=89);Case:46 adult Korean patients with Hepatitis B virus-associated glomerulonephritis										
125748		silicosis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Yuan, B.  et al. 2002	14694619				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2002 Apr;20(2):93-6	[The relationship between silicosis and the polymorphism of HLA-DRB1 *, DOB1 * genes]		604305	11216	2	2002	 HLA-DRB1 * 1401 and DQB1 * 05 may be the susceptible genes and HLA-DRB1 * 09 the protection gene of silicosis, both susceptibility and protection may be related to HLA-DR gene locus. The joint action of allele genes may affect the pathogenesis of silicosis.	Control:100 normal controls;Case:48 Chinese Han silicosis patients										
125749	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Al-Harbi, E. M.  et al. 2004	15013978				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian	Bahrain	CDC GDPinfo	3119	Hs.409934			Clinical and diagnostic laboratory immunology. 2004 Mar;11(2):292-6	Specific HLA-DRB and -DQB alleles and haplotypes confer disease susceptibility or resistance in Bahraini type 1 diabetes patients.		604305	11217	2	2004	These results confirm the association of specific HLA-DR and -DQ alleles and haplotypes with type 1 diabetes and may underline several characteristics that distinguish Bahraini patients from other Caucasians patients.	Case:107 unrelated type 1 diabetics:Bahrain;Control:88 healthy controls										
125744	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Han, F.  et al. 2003	12887819				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue za zhi. 2003 Apr;83(8):644-6	[HLA-DRB and -DQB allele contribution to narcolepsy susceptibility in Chinese patients with narcolepsy]		604305	11212	2	2003	 HLA DR(2) and HLADQw6 are markers for narcolepsy-cataplexy in Chinese.	Cohort 31 Chinese patients with narcolepsy 		HLA DR(2)		HLADQw6				Y		narcolepsy-cataplexy in Chinese
125745	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Mimbacas, A.  et al. 2003	12917799				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mixageneted population (caucasian, african, amerindian)	Uruguay	CDC GDPinfo	3119	Hs.409934			Genetics and molecular research [electronic resource] :  GMR. 2003 Mar;2(1):29-35	Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay		604305	11213	2	2003	The genotype DQB1*0302/DQB1*0201 (33%, RR = 5.41, P<0.05) was positively associated with this disease. The genotype frequencies associated with type 1 diabetes in our population were significantly different from what is known for Caucasian and Black populations as well as compared with another admixed population, from Chile.	Control:40 control individuals;Case:72 type 1 diabetic patients:Montevideo, Uruguay										
125746	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DQB1	32735641	32742374		Dubaniewicz, A.  et al. 2003	14514946				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Thorax. 2003 Oct;58(10):890-1	Analysis of DQB1 allele frequencies in pulmonary tuberculosis: preliminary report.		604305	11214	2	2003	 The occurrence of specific DQB1 alleles may be linked to susceptibility/resistance to tuberculosis.	Case:38 tuberculosis patients;Control:58 healthy university staff volunteers										
125741		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Battelino, T.  et al. 2003	12787001				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Slovenia	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2003 Jun;30(3):223-7	The HLA-DRB, -DQB polymorphism and anti-insulin antibody response in Slovenian patients with type 1 diabetes.		604305	11209	2	2003	It is suggested that there may be a combined influence of the QBP5.12 promoter and the DQB1*0501 functional molecule on reduced IAA production.	Cohort 135 patients with type 1 diabetes (age 17.5 +/- 7.0 years, duration of T1D 9.14 +/- 6.3 years) 		HLA	DRB1*0301-QBP2.1-DQB1*0201 haplotype					Y		anti-insulin antibody response in Slovenian patients with type 1 diabetes
125742		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Varga, E.  et al. 2003	12793199				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Hungary	CDC GDPinfo	3119	Hs.409934			Acta microbiologica et immunologica Hungarica. 2003 ;50(1):33-41	The role of HLA-DRB1*04 alleles and their association with HLA-DQB genes in genetic susceptibility to rheumatoid arthritis in Hungarian patients.		604305	11210	2	2003	In spite of the fact, that the Hungarian population has been isolated linguistically over centuries, a considerable racial admixture has occurred following immigration and invasions, thus the present study confirms in Hungarian patients with RA, previous findings for RA and HLA in European countries.	Case rheumatoid arthritis patients:Hungary;Control:controls										
125743		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Samaha, H.  et al. 2003	12835080				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Molecular immunology. 2003 Jul;39(17-18):1079-81	HLA class II allele frequencies in the Lebanese population.		604305	11211	2	2003	These results confirm previous serological studies and show the high prevalence of DRB1*1101 and DQB1*0301 in Lebanon, which could be explained by the high frequency of consanguineous marriages in the population. The presence of other common alleles is consistent with historical data showing that the Lebanese population is an admixture of various ethnicities.	Cohort 191 unrelated Lebanese subjects 										
125739		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Nejentsev, S.  et al. 2003	12590979				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			Human immunology. 2003 Mar;64(3):345-9	Intercellular adhesion molecule-1 K469E polymorphism: study of association with multiplesclerosis.		604305	11206	2	2003	An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations. The effect observed was found to be strongest among the HLA-DQB1*0602-positive subjects, which implies genetic heterogeneity of MS. Meta-analysis of all published datasets supports increased risk of MS for the ICAM-1 Lys(469) homozygotes (relative risk = 1.3, p = 0.002).An increased risk for the AA (Lys(469)/Lys(469)) genotype was found in both populations. The effect observed was found to be strongest among the HLA-DQB1*0602-positive subjects, which implies genetic heterogeneity of MS. Meta-analysis of all published datasets supports increased risk of MS for the ICAM-1 Lys(469) homozygotes (relative risk = 1.3, p = 0.002).	Case Finnish and Spanish multiple sclerosis cases;Control:control Not defined in abstract Not defined in abstract		ICAM-1	AA (Lys(469)/Lys(469))	HLA-DQB1	*0602-positive			Y		multiple sclerosis
125740		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Vogelsang, H.  et al. 2003	12757179				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Digestive diseases and sciences. 2003 Mar;48(3):611-4	Distribution of HLA class I alleles differs in celiac disease patients according to age of onset		604305	11208	2	2003	We conclude that  distinct alleles from the class I region of the human MHC might lead to late onset of CD. In particular, relatives of CD patients with the disease-prone HLA class I alleles HLA-B8 and Cw7 should be followed up carefully for late onset of CD.	Cohort 20062/59 three groups of patients suffering from CD with the age of onset in the first group (n = 200) was before 15 years of age, in the second group (n = 62) between 15 and 40 years, in the third group (n = 59) after 40 years 										
125737	Y	diabetes, type 1; celiac disease	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Kuitunen, M.  et al. 2002	12515291				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Autoimmunity. 2002 Aug;35(5):365-8	Intestinal permeability to mannitol and lactulose in children with type 1 diabetes with the HLA-DQB1*02 allele		604305	11204	2	2002	Although the differences in permeability reach statistical significance, there was still much overlap between the two groups in terms of actual laboratory values. The higher permeability of patients with the HLA-DQB1*02 allele suggests that these patients may be more prone to develop abnormal immune responses to food antigens.	Control:24 healthy age-matched control children;Case:26 children with type 1 diabetes										
125738	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Vulvar Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Davidson, E. J.  et al. 2003	12543794				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Cancer research. 2003 Jan;63(2):400-3	Association between human leukocyte antigen polymorphism and human papillomavirus 16-positive vulval intraepithelial neoplasia in British women		604305	11205	2	2003	Such factors are important to the development of HPV vaccines for treatment of cervical and vulval neoplasia.	Case:42/114 HPV-16-positive high grade vulval intraepithelial neoplasia patients (n=42) and local HPV-16-positive cervical carcinoma patients (N=114);Control:946/144 local cadaver controls typed for HLA class I (n = 946) and II (n = 144) antigens										
125734		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bilinska, Z. T.  et al. 2002	12362498				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Polish	Poland	CDC GDPinfo	3119	Hs.409934			Polski merkuriusz lekarski. 2002 Jul;13(73):18-20	[Frequency of DRB1* and DQB1* alleles in Polish patients with dilated cardiomyopathy]		604305	11200	2	2002	In conclusion, these data give some support for autoimmune involvement in the pathogenesis of dilated cardiomyopathy.	Control:126 local controls;Case:52 unrelated patients with dilated cardiomyopathy (25 consecutive men, 27 consecutive women, mean age 38 +/- 16 years)										
125735		malaria	INFECTION	INF	Malaria	6	6p21.3	HLA-DQB1	32735641	32742374		Busson, M.  et al. 2002	12445316				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Vietnamese	Vietnam	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jun;59(6):470-4	HLA-DRB1 and DQB1 allele distribution in the Muong population exposed to malaria in Vietnam.		604305	11201	2	2002	The striking presence of the HLA-DQ1*0502 allele (48% frequency) in the Viet Muongs is possibly	Cohort 91/103 individuals of the Viet Muong population (n=91) and Viet Kinh (n=103) population Vietnam 										
125736	Y	thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bao, R.  et al. 2002	12513847				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2002 Feb;10(1):87-8	[Association of the relationship between HLA-DQB1 alleles and major beta-thalassemia in 42 guangdong Chinese]		604305	11203	2	2002	Our data suggests that HLA-DQB1*06 allele is associated with pathogenesis of the major beta-thalassemia in Guangdong are	Case:42 unrelated patients with major beta-thalassemia Guangdong Province, China;Control:45 normal control individuals										
125731	Y	polymyositis; dermatomyosis	IMMUNE	IMM	Dermatomyositis	6	6p21.3	HLA-DQB1	32735641	32742374		Han, X.  et al. 2002	12170471				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):322-3	[Association of HLA-DQB1 alleles and dermatomyositis/ polymyositis]		604305	11197	2	2002	 The results suggest that HLA-DQB1*0401 gene contribute to genetic susceptibility to DM/PM.	Cohort 52 patients with DM/PM 										
125732		pemphigus vulgaris	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Glorio, R.  et al. 2002	12196893				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Argentina	CDC GDPinfo	3119	Hs.409934			Journal of cutaneous medicine and surgery. 2002 Sep-Oct;6(5):422-6	HLA Haplotypes and Class II Molecular Alleles in Argentinian Patients with Pemphigus Vulgaris		604305	11198	2	2002	 In patients with the haplotype DRb1* 0402/DQb1* 0302 the affectation of 10%-30% of the corporal surface prevailed (ACS). In patients with DRb1* 1401/DRQb1* 0503, involvement of <10% of the ACS prevailed.	Control:199 unselected individuals from the same ethnic group;Case:47 patients with a diagnosis of PV										
125733		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Chronic Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Renou, C.  et al. 2002	12235085				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Gut. 2002 Oct;51(4):585-90	Histological features and HLA class II alleles in hepatitis C virus chronically infected patients with persistently normal alanine aminotransferase levels.		604305	11199	2	2002	 Our study confirms that patients with chronic hepatitis C and normal ALT levels have less severe liver disease than those with elevated ALT levels. This particular biochemical outcome may be explained, at least in part, by host immunogenetic factors such as the presence of HLA-DRB1*11.	Control:233 patients with chronic HCV infection and elevated ALT levels;Case:83 patients with chronic HCV infection and persistently normal ALT values										
125728	Y	human papillomavirus infection	INFECTION	INF	Papillomavirus Infections|Tumor Virus Infections	6	6p21.3	HLA-DQB1	32735641	32742374		Maciag, P. C.  et al. 2002	12134251				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2002 Jul;186(2):164-72	Polymorphisms of the human leukocyte antigen DRB1 and DQB1 genes and the natural history of human papillomavirus infection.		604305	11194	2	2002	The results suggest that HLA class II polymorphisms are involved in clearance and maintenance of HPV infection.	Cohort 620 samples from the Ludwig-McGill cohort 		HLA	DRB1*0301-DQB1*0201 haplotype	HLA	DRB1*0807-DQB1*0402 haplotype	HLA	DRB1*1601-DQB1*0502 haplotype	Y		human papillomavirus (HPV) infection
125729		malaria	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Velickovic, Z. M.  et al. 2002	12144623				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 May;59(5):397-406	HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations.		604305	11195	2	2002	Observed allele and haplotype frequencies were found to be in agreement with previously published HLA-DRB and HLA-DQB Polynesian data.	Cohort four Pacific Islands populations from the Cook Islands, Samoa, Tokelau and Tonga Pacific Islands 										
125730		HIV infection	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Motta, P.  et al. 2002	12150008				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Argentinian	Argentina	CDC GDPinfo	3119	Hs.409934			Medicina. 2002 ;62(3):245-8	Association of HLA-DQ and HLA-DR alleles with susceptibility or resistance to HIV-1 infection among the population of Chaco Province, Argentina.		604305	11196	2	2002	Our data show that there are HLA class II alleles associated with susceptibility or resistance to HIV-1 infection and that these differ among ethnic groups. We believe that our results differ from the other Caucasians populations due to the ethnic variability of Chaco inhabitants resulting from mixing between Caucasians and South American natives (Guaranies and Tobas).	Control:46/57 healthy control subjects participating in HLA-DQB1 study (n=46) and HLA-DRB1 study (n=57);Case:54 HIV-1 positive patients Chaco Province, Argentina										
125725		hepatitis B vaccination, humoral immune response	INFECTION	INF	Hepatitis B	6	6p21.3	HLA-DQB1	32735641	32742374		Lindemann, M.  et al. 2002	12083823				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Virology. 2002 Jun;297(2):245-52	Role of G protein beta3 subunit C825T and HLA class II polymorphisms in the immune response after HBV vaccination.		604305	11191	2	2002	In summary, the GNB3 825T allele appears as a marker particularly predictive of cellular and HLA-DQB1*0301 of humoral immune responses following HBV vaccination.	Cohort 77/79 probands after HBV basic immunization (n=77) and HBV booster-vaccinated healthy volunteers(n=79) 		GNB3	825T	HLA-DQB1	*0301			Y	hepatitis B virus	immune response after hepatitis B virus vaccination.
125726		cirrhosis	OTHER	OTH	Hepatitis C|Liver Cirrhosis	6	6p21.3	HLA-DQB1	32735641	32742374		Hue, S.  et al. 2002	12089669				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2002 Jul;186(1):106-9	Human leukocyte antigen class II alleles may contribute to the severity of hepatitis C virus-related liver disease.		604305	11192	2	2002	By multivariate analysis, cirrhosis was associated with male sex and age >50 years. HLA class II alleles may weakly contribute to the severity of HCV liver disease. Of persons infected with HCV, only 15%-20% spontaneously clear the virus, and the rest become chronically infected.	Cohort 233 HCV RNA-positive patients with chronic active hepatitis (197 patients with Knodell index of fibrosis F0-F3 and 36 patients with index of F4) 	hepatitis C									
125727	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	6	6p21.3	HLA-DQB1	32735641	32742374		Jun, T. Y.  et al. 2002	12109964				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean	Korea	CDC GDPinfo	3119	Hs.409934			Psychiatry and clinical neurosciences. 2002 Aug;56(4):453-7	Human leukocyte antigen alleles in patients with bipolar disorder in the Korean population.		604305	11193	2	2002	The results of the present study suggest that HLA alleles may not confer susceptibility to bipolar disorder in the Korean population. To clarify the genetic influence of HLA on bipolar disorder, we should conduct a consecutive study with a larger cohort of subjects.	Control:206 normal controls;Case:87 bipolar patients:Korea										
125723	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Abid Kamoun, H.  et al. 2002	11934390				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Tunisian	Tunisia	CDC GDPinfo	3119	Hs.409934			Ann Genet. 2002 Jan-Mar;45(1):45-50	HLA polymorphism in type 1 diabetes Tunisians.		604305	11189	2	2002	1) The Tunisian insulin-dependent diabetics present similarities as well as differences with other ethnic groups (Caucasians, North Africans). 2) The haplotype DRB1*04 DQ*0302 and DRB1*03 DQB1*0201 is positively associated to type 1 diabetes. 3) The heterozygotic genotype DRB1*04 DQB1*0302 / DRB1*03 DQB1*0201 is strongly associated to type 1 diabetes. 4) The haplotypes DRB1*01501 DQB1*0602 and DRB1*11 DQB1*0301 proved to be protective. In addition, the study of the subtypes DRB1*04 showed that alleles DRB1*0405 predispose to type 1 diabetes, whereas the allele DRB1*0403, which is in linkage disequilibrium with the DQB1*0402 in the Tunisian population, has a protective effect.	Case:43 unrelated type 1 diabetes patients, and their mean age at onset is less than 15 years										
125724		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DQB1	32735641	32742374		Akar, A.  et al. 2002	11978563				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of dermatology. 2002 May-Jun;12(3):236-9	HLA class II alleles in patients with alopecia areata		604305	11190	2	2002	Our findings suggested that DQB1*03 allele is a marker for general susceptibility to alopecia areata and may also serve as special genetic marker for susceptibility for the severe form of alopecia areata in our population. However, this association is not related to age at onset of the disease.	Control:50 helathy transplant donors;Case:65 alopecia areata patients										
125719	N	graft acceptance, liver	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Muro, M.  et al. 2001	11804200				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human biology; an international record of research. 2001 Dec;73(6):845-54	Polymorphism in the upstream regulatory region of the HLA-DQB1 gene in liver graft recipients.		604305	11185	2	2001	In conclusion, our data show that the polymorphism in the DQB1 promoter region does not clearly influence liver graft acceptance, and, as occurs in other populations, QBP alleles exhibit strong linkage disequilibrium with the DQB1 locus.	Case:103 first-time liver transplants;Control:108 healthy Spanish controls										
125720	Y	cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQB1	32735641	32742374		Low, A. S.  et al. 2002	11841486			intron	Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2002 Feb;29(1):31-4	Association between two tumour necrosis factor intronic polymorphisms and HLA alleles.		604305	11186	2	2002	The frequencies of the uncommon alleles were 0.08 (+489A) and 0.05 (+691Gdel). The +489A allele is associated with carriage of DRB1*1104, DQB1*0301, B18 and B35. The +691Gdel allele is associated with carriage of DRB1*13 *11, DQB1*0301 and B44	Cohort 216 healthy individuals north England 										
125721	Y	sickle cell anemia	HEMATOLOGICAL	HEM	Bacterial Infections|Bacteremia|Salmonella Infections|Staphylococcal Infections|Pneumococcal Infections|Osteomyelitis|Meningitis|Anemia, Sickle Cell|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Tamouza, R.  et al. 2002	11872237				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2002 Mar;63(3):194-9	Infectious complications in sickle cell disease are influenced by HLA class II alleles.		604305	11187	2	2002	These findings suggest a direct involvement of HLA polymorphism in the development of major infections in SCD. Together with previous data on polymorphism of the Fc receptor and of the mannose-binding lectin, they provide evidence for a polygenic immunomodulation of the constitutively increased infectious risk in SCD.	Cohort 80 SCD patients living in Paris, 43 with at least one major infectious complication and 37 without infections 										
125716		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wang, S. S.  et al. 2001	11679920				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Costa Rica	CDC GDPinfo	3119	Hs.409934			The Journal of infectious diseases. 2001 Nov;184(10):1310-4	Human leukocyte antigen class I and II alleles and risk of cervical neoplasia: results from apopulation-based study in Costa Rica.		604305	11181	2	2001	These results support the hypothesis that multiple risk alleles are needed in order to increase risk for cervical neoplasia, but a single protective allele may be sufficient for protection.	Case:166 patients with invasive cervical cancer, high-grade squamous intraepithelial lesions Cuanacaste, Costa Rica;Control:173 individuals who were HPV negative with no evidence of cervical neoplasia but with a history of high-risk sexual behavior;Case:320 patients with low-grade squamous intraepithelial lesions (LSILs); were positive for human papillomavirus (HPV) with no evidence of cervical:neoplasia										
125718	Y	pemphigoid, mucous membrane	OTHER	OTH	Mouth Diseases|Pemphigoid, Benign Mucous Membrane|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Carrozzo, M.  et al. 2001	11736906				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			The British journal of dermatology. 2001 Nov;145(5):805-8	HLA-DQB1 alleles in Italian patients with mucous membrane pemphigoid predominantly affecting the oral cavity		604305	11183	2	2001	 Our data suggest that Italian patients with MMP lesions predominantly affecting the oral cavity present the same genetic predisposition linked to HLA-DQB1*0301 previously reported mainly in patients with OCP.	Case:28 Italian caucasian patients with mucous membrane:pemphigoid:Cohort:97 geographically matched, healthy Italian caucasian:controls										
125713		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Chowdari, K. V.  et al. 2001	11423178				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	Singapore	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Jul;62(7):714-24	Immune related genetic polymorphisms and schizophrenia among the Chinese.		604305	11178	2	2001	Our results suggest a susceptibility locus for schizophrenia in the HLA region among the Chinese, but further clarification is necessary.	Case schizophrenia patients of Chinese ethnicity Guangzhou, China, and Singapore;Control unrelated non-schizophrenics Guangzhou, China, and Singapore										
125714	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ramos-Arroyo, M. A.  et al. 2001	11476906				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish	Spain	CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Aug;62(8):821-5	Heat-shock protein 70-1 and HLA class II gene polymorphisms associated with celiac disease susceptibility in Navarra (Spain)		604305	11179	2	2001	We therefore conclude that although HSP70-1 gene does not seem to be primarily associated with CD, it might be a component of the high risk haplotype, playing a role as an additional predisposing gene for the disease.	Case:128 celiac disease patients:Navarra, Spain;Control:94 healthy controls										
125715		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Saukkonen, T.  et al. 2001	11484084				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Diabetologia. 2001 Aug;44(8):1051-3	Prevalence of coeliac disease in siblings of patients with Type I diabetes is related to the prevalence of DQB1*02 allele.		604305	11180	2	2001	We found the prevalence of coeliac disease among siblings of children with Type I diabetes to be similar to figures reported from recent population-based studies and to be correlated with the prevalence of coeliac disease associated HLA-DQB1 alleles. We propose that routine screening for coeliac disease among all first-degree relatives of patients with Type I diabetes is not warranted.	Cohort 427 HLA_DQB1 genotyped subjects out of 550 subjects (mean age 11.8 years, range 3.1-26.9 years) with a sibling with Type I diabetes 										
125710		HLA-DR2 specificity	NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Vargas-Alarcon, G.  et al. 2001	11250046				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican		CDC GDPinfo	3119	Hs.409934			Human immunology. 2001 Mar;62(3):286-91	Polymorphism and distribution of HLA-DR2 alleles in Mexican populations.		604305	11174	2	2001	This data corroborates the restricted polymorphism of DRB1*15/16 and the high frequency of DRB1*16 subtype in autochthonous American populations and suggest that the differences in gene frequencies of DRB1*15/16 alleles could be helpful in distinguishing each of these population.	Case:68 DR2 positive individuals of Mexican Mestizo, Mazatecan, and Nahua descent										
125711	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Santos, J. L.  et al. 2001	11296153				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Chile	CDC GDPinfo	3119	Hs.409934			American journal of epidemiology. 2001 Apr;153(8):794-8	Association between HLA-DQB1 alleles and type 1 diabetes in a case-parents study conducted in Santiago, Chile.		604305	11176	2	2001	When case-parents trios were used, alleles DQB1(*)0302 and DQB1(*)0201 were strongly associated with a higher risk of type 1 diabetes in the population of Santiago.	Case:94 case-parent trios comprising incident cases less than 17 years of age at the time of diagnosis:Santiago, Chile March 1997-August 1998										
125712		silicosis	IMMUNE	IMM	Silicosis	6	6p21.3	HLA-DQB1	32735641	32742374		Ueki, A.  et al. 2001	11327387				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			The Science of the total environment. 2001 Apr;270(3-Jan):141-8	Autoantibodies detectable in the sera of silicosis patients. The relationship between the anti-topoisomerase I antibody response and HLA-DQB1*0402 allele in Japanese silicosis patients.		604305	11177	2	2001	These findings will be useful for preventing occupational autoimmune diseases.	Control:66 healthy volunteers;Case:81 silicosis patients:Japanese										
125707	Y	thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Long, G.  et al. 1998	11189498				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Zhonghua xue ye xue za zhi. 1998 Oct;19(10):528-30	[Association of HLA-DQB1 alleles and the susceptibility to beta-thalassemia in Guangxi Chinese Zhuang nationality]		604305	11171	2	1998	 The susceptibility to beta-thalassemia in the Guangxi Zhuang individuals is associated with HLA-DQB1*0604 allele.	Control normal controls;Case:64 randomly selected, unrelated Guangxi Zhuang individuals with beta-thalassemia										
125708		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-DQB1	32735641	32742374		Chen, W. M.  et al. 2001	11233253				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese		CDC GDPinfo	3119	Hs.409934			Yi chuan xue bao. 2001 ;28(2):107-14	[Analysis of HLA-DQB1 polymorphism by PCR-SSO in Yichu of Yunnan Province]		604305	11172	2	2001	Comparison of HLA-DQB1 allele frequencies of Yichu with those of 13 other Chinese ethnic groups showed some significant differences, suggesting Yichu is unique in the distribution of HLA alleles.	Cohort 76 individuals of Yichu ethnic group Yunnan Province, China 										
125709	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Ongagna, J. C.  et al. 2001	11239517				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		France	CDC GDPinfo	3119	Hs.409934			Clinical biochemistry. 2001 Feb;34(1):59-63	The HLA-DQB alleles and amino acid variants of the vitamin D-binding protein in diabetic patients in Alsace.		604305	11173	2	2001	 The study of the DQB1 chain confirmed the value of alleles encoding for an amino acid different from Asp in position 57 (NA) in the susceptibility to type 1 diabetes. The allele frequency of the HaeIII site, but not of the StyI site, differed between patients and controls (HaeIII p < 0.001; StyI p > 0.05).	Case:44 type 1 diabetes patients:Alsace;Control:58 healthy individuals:Alsace										
125704		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Hawrami K 1991	1679401				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	South Indian	India	Y Wang	3119	Hs.409934	Complications		Diabetologia. 1991 Jun;34(6):441-4	A genetic study of retinopathy in south Indian type 2 (non-insulin-dependent) diabetic patients.		604305	3158	1	1991												
125705	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Silva, E. M.  et al. 2000	11045836				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Brazil	CDC GDPinfo	3119	Hs.409934			Journal of pediatric gastroenterology and nutrition. 2000 Oct;31(4):391-4	Human leukocyte antigen class II alleles in white Brazilian patients with celiac disease.		604305	11169	2	2000	 The results show that HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 alleles conferred susceptibility to CD in Brazilian patients. In contrast, HLADQB1*06 alleles conferred protection against development of the disease.	Case:25 patients with CD, 11 females and 14 males in white patients who had celiac disease Ribeirao Preto and Sao Paulo, Brazilian;Control:91 healthy individuals from the same geographical area and of similar ethnic background Ribeirao Preto and Sao Paulo, Brazilian										
125706		malaria	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Gibert M  et al. 2000	11053637				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish		CDC GDPinfo	3119	Hs.409934			Human immunology. 2000 Sep;61(9):930-6	HLA-DRB1 and DQB1 polymorphisms in southern France and genetic relationships with other Mediterranean populations.		604305	11170	2	2000	The haplotype frequencies showed relationships with North Africans and Jewish populations, as well as the common origin of Moroccan and Lebanese Jews.	Cohort 181 individuals originating from southern France French 										
125701		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Li H 2003	12788886	DQB1*02			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			Y Wang	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2767-74	A combination of human leukocyte antigen DQB1*02 and the tumor necrosis factor alpha promoter G308A polymorphism predisposes to an insulin-deficient phenotype in patients with type 2 diabetes.		604305	3155	1	2003	In conclusion, TNFalpha is unlikely to be the second gene in the HLA area responsible for our previous findings in type 1/2 patients. However, we could show an association between TNFalpha(308) polymorphism and the phenotype of common type 2 diabetes.	Case type 2 diabetic patients from mixed type 1/2 families or common type 2 diabetic families;Case:126 patients with adult onset type 1 diabetes;Control:284:controls		HLA-DQB1		TNF alpha	-308			Y		Type 2 diabetes
125702	Y	pollen-induced allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wang M 2004	14990915	HLA-DQB*0201			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese	China	KGB	3119	Hs.409934			Otolaryngology--head and neck surgery. 2004 Feb;130(2):192-6	Association between HLA class II locus and the susceptibility to Artemisia pollen-induced allergic rhinitis in Chinese population.		604305	3156	1	2004	HLA-DQA1 and -DQB1 genes may be involved in the development of Artemisia pollen-induced allergic rhinitis. HLA-DQA1*0201, DQB1*0602 alleles may be a protective factor and DQA1*0302 may be a susceptible factor for Artemisia pollen-induced allergic rhinitis.	Case:41 subjects with allergic rhinitis:Beijing;Control:41 healthy controls										
125703		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Deng GY 2004	7847389				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		Y Wang	3119	Hs.409934			American journal of human genetics. 1995 Feb;56(2):528-34	Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.		604305	3157	1	2004												
125699	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Gao J 2003	12890388				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	chinese	China	KGB	3119	Hs.409934			Chinese medical journal. 2003 Jul;116(7):1078-82	Association between HLA-DQA1, -DQB1 gene polymorphisms and susceptibility to asthma in northern Chinese subjects.		604305	3153	1	2003	 HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma. Asthma and atopy are multifactorial disorders, HLA-DQA1 and DQB1 genes are involved in the regulation of immune specific response to common allergen.	Case:125 unrelated asthmatic individuals;Control:96 healthy controls without asthma and atopy from the same ethnic origin	beta(2)-agonist methacholine									
125700		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hermann R 2004	15049049				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Hungary	KGB	3119	Hs.409934			Orvosi hetilap. 2004 Feb;145(7):337-42	Predictive genetic screening for type-1 diabetes in the Hungarian population , trans Az 1-es tipusu diabetes es a prediktiv genetikai szures lehetosegei a magyar populacioban.		604305	3154	1	2004	 Using HLA DRB1-DQA1-DQB1 markers predictive genetic screening for type 1 diabetes is feasible in the Hungarian population with high diagnostic sensitivity and specificity. At present, such a screening for individuals at risk for type 1 diabetes in the general population is recommended only as part of prospective studies on the natural history or prevention of disease. To increase the positive predictive value of the model, pancreas beta-cell autoantibodies need to be measured and followed in the high-risk cohort.	Case:149 consecutively diagnosed children with type 1:diabetes;Control:177 randomly selected healthy schoolchildren										
125694		Atopy	IMMUNE	IMM	Food Hypersensitivity	6	6p21.3	HLA-DQB1	32735641	32742374		Howell 1998	9515587	DQB1*04			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Clinical and experimental allergy. 1998 Feb;28(2):156-62			604305	3148	1	1998	 While other genetic factors may be important, results from this study indicate that HLA class II genetic polymorphism may play a role in determining susceptibility to peanut allergy.											
125695	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6p21.3	HLA-DQB1	32735641	32742374	n	Torio 2000	10792423	DQB1			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KCB	3119	Hs.409934			European journal of immunogenetics. 2000 Apr;27(2):81-5			604305	3149	1	2000												
125696	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374	0.0002	Sirikong M et al. 2002	12028537			coding sequence	Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai	Thailand	Tsuchiya N	3119	Hs.409934			Tissue antigens. 2002 Feb;59(2):113-7	Association of HLA-DRB1*1502-DQB1*0501 haplotype with susceptibility to systemic lupus erythematosus in Thais.		604305	3150	1	2002	Taken together with the previous report which demonstrated the association of the same haplotype in Taiwan, our present observations strongly suggested that DRB1*1502 - DQB1*0501 is the major HLA haplotype that confers susceptibility to SLE in the South-east Asian populations.	Case Thai systemic lupus erythematosus patients;Control normal controls										
125690		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Barton, A.  et al. 2002	11981324				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		146880	27736	2	2002	Review article											
125691		Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Horne C 2000	10853858	DQB1*03			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KCB	3119	Hs.409934			The European respiratory journal. 2000 May;15(5):911-4			604305	3145	1	2000												
125693	N	Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374	n	Horne 2000	10853858	DQB1			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KCB	3119	Hs.409934			The European respiratory journal. 2000 May;15(5):911-4			604305	3147	1	2000												
125688		lymphoma	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Tunisian		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		146880	26934	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
125689		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		146880	26935	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
125685		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-DQA1	32713160	32722817		Hildesheim, A.  et al. 2002	12464650				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	Taiwan	CDC GDPinfo	3117	Hs.387679			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		146880	26130	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
125686	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Donaldson, P. T.  et al. 2002	12100571				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		146880	26131	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
125681		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Farjadian, S.  et al. 2004	15496201				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		146880	26126	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
125683		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Rajalingam, R.  et al. 2002	11904677				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDPinfo	3117	Hs.387679			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		146880	26128	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
125678		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Jonsen, A.  et al. 2004	15535834				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		146880	26123	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
125680		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-DQA1	32713160	32722817		Muro, M.  et al. 2001	11543893				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish		CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		146880	26125	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
125675		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817			16386646				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Southwestern American Indian		CDC GDPinfo	3117	Hs.387679			Human immunology. 2005 Oct;66(10):1050-6	HLA Alleles and Risk of Cervical Intraepithelial Neoplasia Among Southwestern American Indian Women		146880	24655	2	2005												
125676	N	nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Zhou, J.  et al. 2003	12778461				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):262-4	[Association study on HLA-DP and -DQ allelic polymorphisms and nasopharyngeal carcinoma in the Han nationality in Hunan province]		146880	24656	2	2003	 No significant association between the HLA-DP and HLA-DQ loci and NPC in Han nationality in Hunan province was confirmed.	Case:87 Chinese Han nasopharyngeal cancer patients Hunan province, China;Control:91 normal controls										
125677		leishmaniasis	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Olivo-Diaz, A.  et al. 2004	15041165				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Mar;65(3):255-61	Role of HLA class II alleles in susceptibility to and protection from localized cutaneous leishmaniasis		146880	24657	2	2004	Resistance was found associated to DPB1*0401, thus *0401 "motif" could be an ideal candidate for the development of a vaccine. DR2 (DRB1*1500+DRB1*1600) has also a significant p for protection, suggesting that the sequence common to this group of antigens may anchor parasite peptides which trigger a protective response.	Control:100 healthy controls;Case:65 patients with localized cutaneous leishmaniasis										
125672		Sjogren's syndrome	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Street, J.  et al. 2003	12648281				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2003 Apr;30(2):129-31	Immunogenetics of the rare HLA-B allele B*4408.		146880	24652	2	2003	The phenotype and gene frequencies of B*4408 were 0.01235% and 0.00006, respectively.	Cohort 40,473 subjects residing in Wales 										
125673		measles	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817		Ovsyannikova, I. G.  et al. 2004	15121303				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Vaccine. 2004 May;22(15-16):1914-20	Associations between human leukocyte antigen (HLA) alleles and very high levels of measles antibody following vaccination.		146880	24653	2	2004	These data increase our understanding of measles vaccine-induced immune response and will be useful for future mechanistic work on measles virus antigen processing and presentation in seronegative and hyperseropositive individuals.	Cohort 170 US schoolchildren who received one dose of measles-mumps-rubella II vaccine US 										
125674		scleroderma; jaundice	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Tsuchiya, K.  et al. 2001	11929590				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Japan	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Dec;58(6):395-401	Combination of HLA-A and HLA class II alleles controls the susceptibility to rheumatoid arthritis.		146880	24654	2	2001	Our results suggested the possibility that the susceptibility to RA is controlled by the interaction of HLA-A and DRBl genes or by that of HLA-A and DPBl genes in different patient subgroups.											
125669		multiple sclerosis; optic neuritis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis	6	6p21.3	HLA-DQA1	32713160	32722817		Amirzargar, A. A.  et al. 2005	15613143				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			European journal of neurology. 2005 Jan;12(1):25-30	Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-upstudy		146880	24649	2	2005	In conclusion existence of common genetic basis for early manifestations of MS could be suggested.	Control:controls;Case:56 Iranian optic neuritis and multiple sclerosis patients (46 females and 10 males)										
125670	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DQA1	32713160	32722817		Parapanissiou, E.  et al. 2005	15853903				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Greek	Greece	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2005 May;65(5):481-4	HLA antigens in Greek children with allergic bronchial asthma.		146880	24650	2	2005	The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children.	Control:125 healthy, unrelated Greek children without medical history of atopy;Case:60 Greek children with allergic bronchial asthma due to mite sensitivity:Greece										
125671		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Nejentsev, S.  et al. 2000	11118029				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		146880	24651	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
125666		melanoma	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Spinola, H.  et al. 2005	16101833				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2005 Sep;66(3):217-30	HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands.		146880	24646	2	2005												
125667		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817			16343061				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Korean		CDC GDPinfo	3117	Hs.387679			Liver international. 2005 Dec;25(6):1122-7	Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population		146880	24647	2	2005	 These results suggest that particular HLA alleles may have an influence on chronic HCV infection as a host genetic factor in the Korean population.											
125668		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kheradvar, A.  et al. 2004	15471368				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Iran	CDC GDPinfo	3117	Hs.387679			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):526-31	Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-yearfollow-up study.		146880	24648	2	2004	 The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.	Cohort 55 patients with a potential diagnosis of acute optic neuritis (20 were confirmed for the diagnosis of multiple sclerosis) Iran 										
125663		lung function; PAH metabolites, urinary	OTHER	OTH		6	6p21.3	HLA-DQA1	32713160	32722817		Morera, B.  et al. 2001	12189808				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Rev Biol Trop. 2001 Sep-Dec;49(4-Mar):1253-60	Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci		146880	24643	2	2001	Allele frequencies of the markers HLA-DQA1 and GYPA were found to be significantly different between the populations of Nicaragua and Costa Rica. Nevertheless, genetic distances showed that Nicaragua is close to other Hispanic-admixed populations like those from Argentina, Chile, Colombia, Costa Rica, and USA Hispanics. The loci set was assessed to be useful for paternity testing and individual identification in the Nicaraguan population residing in Costa Rica.	Cohort 100 unrelated Nicaraguans Costa Rica 										
125664		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Sanchez-Velasco, P.  et al. 2003	12753657				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2003 May;61(5):384-92	HLA alleles in isolated populations from North Spain: origin of the Basques and the ancientIberians.		146880	24644	2	2003	These populations have been compared with neighbouring ones and other Mediterraneans by using neighbour-joining dendrograms and plane genetic distances.	Cohort three relatively isolated populations of northern Spain from Cantabria ( Pas Valleys inhabitants or Pasiegos and Cabuernigos) and from the Basque Country (Arratia Valley inhabitants) 										
125660		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gaede, K. I.  et al. 2005	15750822				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		United States|Israel|Germany	CDC GDPinfo	3117	Hs.387679			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		146880	21838	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
125661		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Cryoglobulinemia|Autoimmune Diseases	6	6p21.3	HLA-DQA1	32713160	32722817		Vassilopoulos, D.  et al. 2003	14740435				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Clinical and experimental rheumatology. 2003 Nov-Dec;21(6 Suppl 32):S101-11	Study of host and virological factors of patients with chronic HCV infection and associated laboratory or clinical autoimmune manifestations.		146880	24641	2	2003	 Chronically infected HCV patients with symptomatic mixed cryoglobulinemia display a number of unique characteristics that differentiate them from asymptomatic patients with chronic hepatitis C.	Cohort 40 HCV patients with liver disease only (n = 11), with laboratory (n = 20) or clinical (n = 9) autoimmune manifestations 										
125658		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Uveitis, Anterior	6	6p21.3	HLA-DQA1	32713160	32722817		Alsaeid, K.  et al. 2005	15703957				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Rheumatology international. 2006 Jan;26(3):224-8	The prevalence of human leukocyte antigen (HLA) DR/DQ/DP alleles in Kuwaiti children with oligoarticular juvenile idiopathic arthritis.		146880	21836	2	2005	Most Kuwaiti Arab patients with OA-JIA who carried a DQ or DP susceptibility allele also had an accompanying DRB1*03 or *8 allele.	Control healthy controls;Case Kuwaiti children with oligoarticular juvenile idiopathic arthritis										
125659		nephropathy in other diseases	RENAL	REN	Glomerulonephritis|Lupus Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Marchini, M.  et al. 2003	12651073				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian	Italy	CDC GDPinfo	3117	Hs.387679			Human immunology. 2003 Apr;64(4):462-8	HLA class II antigens associated with lupus nephritis in Italian SLE patients.		146880	21837	2	2003	In the Italian population HLA-DQA and HLA-DR alleles interact in conferring susceptibility to or protection against lupus nephritis, the diffuse proliferative glomerulonephritis (i.e., the most severe form of nephritis) is associated with the HLA-DR15 bearing haplotypes.	Cohort 244 patients fulfilling the American Rheumatism Association criteria for systemic lupus erythematosus (SLE) Italy 										
125655		hepatosplenic schistosomiasis japonica	INFECTION	INF	Schistosomiasis japonica|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zhang, J. H.  et al. 2005	16042197				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhongguo ji sheng chong xue yu ji sheng chong bing za zhi. 2005 Feb;23(1):9-Jun	[Studies on the association of human leukocyte antigen class II alleles with advanced hepatosplenic schistosomiasis japonica]		146880	21833	2	2005	 The study indicated that HLA-DRB1 x 04, DPA1 x 0103. DQA1 x 0601 and DQB1 x 0201 showing a positive, statistically significant (P<0.05) association with advanced hepatosplenic schistosomiasis japonica may be the susceptible genes, whereas HLA-DQA1 x 0501 and DQBH1 x 0601 may be more relevant to a resistance to the disease.											
125657		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DQA1	32713160	32722817		Donaldson, P. T.  et al. 2001	11318984				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China|Hong Kong	CDC GDPinfo	3117	Hs.387679			Liver. 2001 Apr;21(2):143-8	HLA class II alleles in Chinese patients with hepatocellular carcinoma		146880	21835	2	2001	 Although none of these associations was significant after correction for multiple testing, this report suggests that further investigations are warranted.	Case:123 hepatitis B surface antigen positive patients (84 with hepatocellular carcinoma and 39 without);Control:124 matched controls										
125652		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Lopez-Vazquez, A.  et al. 2002	11839711				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Gut. 2002 Mar;50(3):336-40	MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.		146880	21830	2	2002	 Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.	Control:116 healthy controls;Case:133 Spanish celiac patients										
125653		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gonzalez, S.  et al. 2004	15089901				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			The American journal of gastroenterology. 2004 Apr;99(4):676-80	Association of MHC class I related gene B (MICB) to celiac disease.		146880	21831	2	2004	 The expression of MIC genes on enterocytes under stressful conditions and their function as ligands of intraepithelial gammadelta and CD8 T cells, together with the data presented here suggest a potential role of MIC genes in the pathogenesis of CD.	Control:116:controls;Case:133/28 celiac disease patients (n=133) and an additional DQ2-negative patients (n=28)										
125649		autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hunt, P. J.  et al. 2001	11678832				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDPinfo	3117	Hs.387679			Clinical endocrinology. 2001 Oct;55(4):491-9	Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease.		146880	21827	2	2001	 These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. AIH differs from GD, being less influenced by the MHC region.	Case:215 patients with autoimmune thyroid disease (GD 135, AIH 77);Control:267 control subjects not otherwise specified in:abstract										
125650		preeclampsia	REPRODUCTION	REP	Pregnancy Complications, Infectious|Cytomegalovirus Infections|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Carreiras, M.  et al. 2002	12443029				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			American journal of reproductive immunology (New York, NY :  1989). 2002 Sep;48(3):176-83	Preeclampsia: a multifactorial disease resultingfrom the interaction of the feto-maternal HLA genotype and HCMV infection.		146880	21828	2	2002	 The results suggest that the presence of alleles HLA-G*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of preeclampsia.	Case mothers with preeclampsia and their neonates;Control mothers with a normal history of pregnancies and their neonates	human cytomegalo virus									
125646		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	HLA-DQA1	32713160	32722817			15027205				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Russia	CDC GDPinfo	3117	Hs.387679			Genetika. 2004 Jan;40(1):97-101	[In Process Citation]		146880	21824	2	2004		Control:50 healthy donors;Case:96 patients with congenital adrenal hyperplasia northwestern Russia										
125647		atherothrombosis	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DQA1	32713160	32722817		Schallmoser, K.  et al. 2005	15735807				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Thrombosis and haemostasis. 2005 Mar;93(3):544-8	The Fc gammaRIIa polymorphism R/H131, autoantibodies against the platelet receptors GPIb alpha and Fc gammaRIIa and a risk for thromboembolism in lupus anticoagulant patients.		146880	21825	2	2005	There was no correlation between the presence of anti-FcgammaRIIa or anti-GPIbalpha autoantibodies and the FcgammaRIIa -R/H131 polymorphism, nor the incidence of TE, nor HLA class II alleles.	Control:27 patients with lupus anticoagulant without thromboembolic disease;Case:46 patients with lupus anticoagulant and thromboembolic disease										
125648		hypertension; beta-glucuronidase; anaphylactoid purpura	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DQA1	32713160	32722817		Kornienko, I. V.  et al. 2002	12165956				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Russian		CDC GDPinfo	3117	Hs.387679			Sudebno-meditsinskaia ekspertiza. 2002 May-Jun;45(3):20-3	[Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia]		146880	21826	2	2002	The frequency distribution of alleles of the studied panel of locuses in the mean statistical Russian population obtained in our study can be used in molecular genetic personality identification and in anthropological studies.	Cohort 391 donors (no relatives) from 63 regions of the Russian Federation Russia 										
125643		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Ongagna, J. C.  et al. 2002	11900275				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		France	CDC GDPinfo	3117	Hs.387679			International journal of experimental diabetes research. 2002 ;3(1):9-Jan	Markers for risk of type 1 diabetes in relatives of Alsacian patients with type 1 diabetes.		146880	21821	2	2002	 The CTLA-4 49 Ala allele confers an increased risk of type 1 diabetes, independent of age and HLA-DQ genetic markers.	Case:62 type 1 diabetics;Control:84 nondiabetic control subjects										
125644		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Cosentino, A.  et al. 2002	12021137				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:337-40	CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults.		146880	21822	2	2002	The results of our study show that LADA is positively associated with the CTLA-4 A/G genotype, similarly to T1DM, thus providing further supporting evidence of the autoimmune origin of this form of diabetes mellitus of the adult.	Case:80 latent autoimmune diabetes patients;Control:85 healthy subjects										
125645		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hauache, O. M.  et al. 2005	16276008				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Brazil	CDC GDPinfo	3117	Hs.387679			Disease markers. 2005 ;21(3):139-45	Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes.		146880	21823	2	2005												
125640		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Urcelay, E.  et al. 2005	15842729				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish		CDC GDPinfo	3117	Hs.387679			BMC genomics [electronic resource]. 2005 Apr;6(1):56	Type 1 diabetes in the Spanish population:additional factors to class II HLA-DR3 and -DR4.		146880	21818	2	2005	 Our results suggest that other associated MHC haplotypes might present susceptibility factors in loci different from HLA-class II and that the class II molecules are not necessarily the universal etiologic factor in every MHC haplotype.	Case:302 type 1 diabetic patients;Control:529 ethnically matched controls										
125641		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQA1	32713160	32722817		Martinez, A.  et al. 2004	15077289				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		146880	21819	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
125642		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Antonelli, A.  et al. 2002	12242463				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetologia. 2002 Sep;45(9):1298-306	Autoimmunity to CD38 and GAD in Type I and Type II diabetes: CD38 and HLA genotypes and clinicalphenotypes.		146880	21820	2	2002	 Anti-CD 38 autoimmunity identifies a clinical phenotype similar to non-autoimmune Type II diabetes, with relative preserved beta-cell function and weak genetic influence.	Control:100 non-diabetic control subjects;Case:298/98 adults with type 2 (n=298) and type 1 (n=98):diabetics										
125637		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Galeazzi, M.  et al. 2002	11997714				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.		146880	17477	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
125638		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Aguilera, E.  et al. 2005	15660729				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetic medicine. 2005 Feb;22(2):137-43	Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.		146880	17512	2	2005	In a non-paediatric population with newly diagnosed T1D, the absence of islet antibodies does not imply clinical or metabolic differences when compared with those cases with islet antibodies. Despite a similar HLA-DR/DQ typing, the presence of protective alleles and molecular properties in a higher proportion in the Ab neg group suggests that these factors could modulate the presence or absence of islet antibodies. Variants in HNF-1alpha and HNF-4alpha are unlikely to be major contributors to the pathogenesis of diabetes in antibody-negative T1D.	Control:20 diabetic patients without pancreatic autoantibodies;Case:20 diabetic patients with pancreatic autoantibodies										
125634		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zhao, M. L.  et al. 2005	16277897				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua fu chan ke za zhi. 2005 Oct;40(10):673-5	[Study on correlation between histocompatibility leukocyte antigen class II gene and gestational diabetes mellitus.]		146880	17325	2	2005	 The results suggest that there is correlation between HLA class II gene and gestational diabetes mellitus. DRB1*0301, DRB1*1302 and DQA1*0301 are the susceptible alleles of GDM.											
125635		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Disease Progression	6	6p21.3	HLA-DQA1	32713160	32722817			16390391				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Pediatric diabetes. 2005 Dec;6(4):221-9	Slowly progressing form of type 1 diabetes mellitus in children: genetic analysis compared with otherforms of diabetes mellitus in Japanese children		146880	17326	2	2005	 HLA phenotypes and genotypes in patients with IDDMS were different from those in NIDDM and control subjects and were closer to those of IDDMA. Together with a low prevalence of HLA-A24, the genetic features are similar to those of SPIDDM and latent autoimmune diabetes in adults (LADA) in adults. In our series, the clinical features such as lack of obesity and lack of responsiveness to oral hypoglycemic agents were most different from those of adults' onset.											
125631		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Stevens, A. M.  et al. 2005	16142706				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Arthritis and rheumatism. 2005 Sep;52(9):2768-73	Maternal HLA class II compatibility in men with systemic lupus erythematosus.		146880	17322	2	2005	 We observed increased bidirectional HLA class II compatibility of male SLE patients and their mothers compared with healthy men and their mothers. This observation implies that maternal microchimerism could sometimes be involved in SLE and therefore merits further investigation.											
125632	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Autoimmune Diseases	6	6p21.3	HLA-DQA1	32713160	32722817		Liu, W.  et al. 2004	16225776				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China	CDC GDPinfo	3117	Hs.387679			Cellular & molecular immunology. 2004 Aug;1(4):311-4	Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population.		146880	17323	2	2004												
125633		lymphoma	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone|Genetic Predisposition to Disease|Dyspepsia	6	6p21.3	HLA-DQA1	32713160	32722817		Kawahara, Y.  et al. 2005	16234023				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Clinical gastroenterology and hepatology. 2005 Sep;3(9):865-8	HLA-DQA1*0103-DQB1*0601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma.		146880	17324	2	2005	 DQA1*0103-DQB1*0601 haplotype-positive gastric MALT lymphoma is likely to respond to therapy by eradication of H pylori.		Helicobacter pylori									
125628	Y	ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Monos, D. S.  et al. 2005	15935893				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2005 May;66(5):554-62	Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancer.		146880	17319	2	2005	Therefore, it appears that the presence of DQalpha susceptibility elements overrides the protective effect of the DRbetaD(70)E(71) epitope and suggests an interactive relationship between DRbeta and DQalpha epitopes that may be of importance for disease susceptibility. Because positions DRbeta 70,71 and DQalpha 52 have been implicated in immunologic diseases, it is likely that besides being critical for T-cell recognition, they may also play a role in T-cell development and acquisition of the T-cell repertoire.	Case:47 patients with epithelial ovarian cancer;Control:67 healthy Caucasian women										
125629		pregnancy loss, recurrent	REPRODUCTION	REP	Pregnancy Complications|Abortion, Habitual|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hviid, T. V.  et al. 2005	15993714				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2005 Jun;66(6):688-99	Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease.		146880	17320	2	2005												
125630		bee venom allergy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	HLA-DQA1	32713160	32722817		Sanchez-Velasco, P.  et al. 2005	16112029				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Spain	CDC GDPinfo	3117	Hs.387679			Human immunology. 2005 Jul;66(7):818-25	Sensitivity to bee venom antigen phospholipase A2:association with specific HLA class I and class II alleles and haplotypes in beekeepers and allergic patients.		146880	17321	2	2005												
125626	Y	allergy	IMMUNE	IMM	Cough|Respiratory Hypersensitivity|Agricultural Workers' Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Suzuki, K.  et al. 2005	15853900				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Japan	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2005 May;65(5):459-66	HLA class II DPB1, DQA1, DQB1, and DRB1 genotypic associations with occupational allergic cough to Bunashimeji mushroom.		146880	17317	2	2005	The HLA-DRB1*0803 allele alone, the DRB1*0803, DQA1*0103, DQB1*0601 haplotype, or both were negatively associated with allergy to Bunashimeji, and these alleles might be involved in the prevention of Bunashimeji mushroom-specific respiratory allergy.	Cohort workers in a Bunashimeji mushroom (Hypsizigus marmoreus) farm 										
125627		celiac disease	IMMUNE	IMM	Celiac Disease|Atrophy	6	6p21.3	HLA-DQA1	32713160	32722817		Vargas Perez, M. L.  et al. 2005	15871822				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			An Pediatr (Barc). 2005 May;62(5):412-9	[Serological and genetic markers in the diagnosis and follow-up of coeliac disease.]		146880	17318	2	2005	 To avoid missed diagnoses, the diagnostic algorithm of celiac disease should include at least two serological markers (antigliadin antibodies and anti-endomysial and/or anti-transglutaminase antibodies) and IgA quantification. Genomic typing should be carried out if one or more markers are positive or if the subject belongs to any of the risk groups. The physician should decide on the advisability of intestinal biopsy on the basis of the patient's clinical and immunological history.	Cohort 590 patients from the health area of Badajoz referred to the Immunology Laboratory for screening or follow-up of celiac disease 										
125623		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Nikitina-Zake, L.  et al. 2004	15699512				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Latvia	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		146880	17313	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes		KIR2DL2		MICA5		HLA class II	DR3/DR4	Y		type 1 diabetes mellitus
125625		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hallioglu, O.  et al. 2005	15789899				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Turkish	Turkey	CDC GDPinfo	3117	Hs.387679			Clinical and experimental rheumatology. 2005 Jan-Feb;23(1):117-20	DRB1, DQA1, DQB1 genes in Turkish children with rheumatic fever.		146880	17315	2	2005	 Our data indicate that the HLA DQA1*03 allele may be a protecting factor in Turkish children with RF. Our results also suggest that the combination of the DRB1*04 and DQA1*03 alleles may be a stronger protective factor than the DQA1*03 allele alone.	Control:50 unrelated healthy controls;Case:55 children with rheumatic fever:Turkey		HLA-DRB1	*04	HLA-DQA1	*03			Y		rheumatic fever
125620		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Quintero, E.  et al. 2005	15691311				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Europe	CDC GDPinfo	3117	Hs.387679			Helicobacter. 2005 Feb;10(1):21-Dec	Association of Helicobacter pylori-related distal gastric cancer with the HLA class II gene DQB10602 and cagA strains in a southern European population.		146880	17310	2	2005	 Our findings suggest that in the H. pylori-infected southern European population, the cagA genotype and the HLA-DQB1(*)0602 gene confer an increased risk for distal gastric cancer.	Case:42 patients with H. pylori-associated distal gastric:cancer;Control:84 patients with H. pylori-associated benign gastroduodenal disease matched by age (+/-5 years) and gender to cases	alcohol drinking behavior family history smoking (tobacco)									
125621		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Park, Y.  et al. 2004	15699500				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Korean	Korea	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2004 Dec;1037:104-9	Closer association of IA-2 humoral autoreactivity with HLA DR3/4 than DQB1*0201/*0302 in Korean T1D patients.		146880	17311	2	2004	In this low-risk population, autoantibodies to islet-cell antigens were associated with different HLA molecules. In different populations, the immune response to different beta cell autoantigens is mediated via varying HLA class II molecules from different loci. Design of the antigen-specific immunointervention trials should take into account such HLA DR and DQ association.	Cohort 121 Korean type 1 diabetic patients 										
125617	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited	6	6p21.3	HLA-DRB1	32593131	32665559		Loubiere, L. S.  et al. 2004	15572392	HLA-DRB1*11			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian women		CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2005 Mar;44(3):318-22	HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women.		146880	17307	2	2004	 An increase of DRB1*11 in SSc is consistent with other reports. Although present in both diffuse and limited SSc disease subsets, the increase was predominantly due to over-representation of DRB1*1104 in women with diffuse SSc. Women with limited SSc had a preponderance of DRB1*1101, the most common allele in healthy women. DRB1*1104 and DRB1*1101 differ by a single amino acid at position 86, where the former has valine and the latter glycine.	Case:102 women with sytemic sclerosis;Control:533 healthy women										
125618		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Zung, A.  et al. 2004	15603874				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Jewish	Ethiopia|Israel	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Dec;65(12):1463-8	Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics andcontribution of new environment.		146880	17308	2	2004	We concluded that ongoing exposure of genetically predisposed immigrants from Ethiopia to diabetogenic environmental factors eventually leads to a high incidence of overt diabetes in this ethnic group.	Control:119 unrelated controls;Case:33 Ethiopian Jews living in Israel with type 1:diabetes:Israel										
125614		celiac disease	IMMUNE	IMM	Celiac Disease|Atrophy|Diarrhea	6	6p21.3	HLA-DQA1	32713160	32722817		Johnson, T. C.  et al. 2004	15476152				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		New York City|Paris	CDC GDPinfo	3117	Hs.387679			Clinical gastroenterology and hepatology. 2004 Oct;2(10):888-94	Relationship of HLA-DQ8 and severity of celiac disease: comparison of New York and Parisiancohorts.		146880	17304	2	2004	 HLA-DQ8 alleles were increased in the New York cohort of patients with celiac disease; however, this did not account for less severe manifestations of the disease.	Cohort patients with celiac disease New York and Paris 										
125616		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gillespie, K. M.  et al. 2004	15530631				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Lancet. 2004 Nov;364(9446):1699-700	The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes.		146880	17306	2	2004	The proportion of high-risk susceptibility genotypes was increased in the earlier cohort (p=0.003), especially in those diagnosed at age 5 years or younger, which is consistent with the hypothesis that the rise of type 1 diabetes is due to a major environmental effect.	Case:194 type 1 diabetic patients diagnosed more than 50 years ago;Control:582 age-matched and sex-matched individuals										
125611		diabetes, type 1; celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Nielsen, C.  et al. 2004	15309343				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDPinfo	3117	Hs.387679			Immunogenetics. 2004 Aug;56(5):375-8	No allelic variation in genes with high gliadin homology in patients with celiac disease and type 1 diabetes.		146880	17301	2	2004	We conclude that  gut-expressed human celiac epitope homologous peptides are unlikely to represent non-HLA risk factors in the development of celiac disease in Caucasians.	Control:110 Caucasian healthy controls;Case:20/27 Caucasian celiac disease (n=20) and type 1 diabetic:(n=27) patients										
125613	Y	H. pylori infection	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817		Wang, L. L.  et al. 2004	15347442				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Vietnamese		CDC GDPinfo	3117	Hs.387679			Zhonghua er ke za zhi Chinese journal of pediatrics. 2004 Aug;42(8):577-80	[Association of HLA-DQA1 loci with Helicobacter pylori infection in children of Guangxi Zhuang, Mulam nationalities, China and central Jing nationality, Vietnam]		146880	17303	2	2004	 The results indicated that the prevalence of Hp infection in Zhuang and Mulan minority ethnic groups in Guangxi, China was higher than that in Vietnamese Jing ethnic group children. HLA-DQA1 * 0104 allele may be associated with susceptibility to Hp infection.	Cohort 54/76/109 Zhuang(n=54), Mulan (n= 76) and Jing (n=109) children. 										
125608		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Contreas, G.  et al. 2004	15174785				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian	Italy	CDC GDPinfo	3117	Hs.387679			Acta Paediatr. 2004 May;93(5):628-32	Screening of coeliac disease in north Italian children with type 1 diabetes: limited usefulnessof HLA-DQ typing.		146880	17298	2	2004	 A high prevalence of HLA-DQA1* and -DQB1* susceptibility haplotypes for CD was observed both in EMA-negative diabetics and in those with associated CD. The implementation of screening programmes of CD in a T1DM population, based on the identification of HLA susceptibility haplotypes, seems to be of limited usefulness. Serial serologic screening of diabetic patients remains the advisable strategy.	Case type 1 diabetic children with celiac disease northern Italy;Control type 1 diabetic children without celiac disease										
125610	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Van Autreve, J. E.  et al. 2004	15301863				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Africa, Northern|Europe|Belgium	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Jul;65(7):729-36	The rare HLA-DQA1*03-DQB1*02 haplotype confers susceptibility to type 1 diabetes in whites and is preferentially associated with early clinical disease onset in male subjects.		146880	17300	2	2004	These results are compatible with an effect of cis-encoded heterodimers or with previously suggested interactions of X-linked genetic factors with (DR3-)DQB1*02 haplotypes.	Control:2,223 control subjects of Caucasian descent;Case:2,238 Islet antibody-positive diabetic patients										
125605		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Zhang, D. M.  et al. 2004	15059369				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Mar;43(3):174-8	[Subclassification of seronegative type 1 diabetic subjects with HLA-DQ genotypes]		146880	17295	2	2004	 Autoantibody-negative diabetics, if with susceptible HLA-DQ genotypes, presented more type 1A-like features, implying possible existence of as yet unidentified immunologic abnormalities in these patients. HLA-DQ risk genotypes may reclassify seronegative type 1 diabetics. Those who are autoantibody negative but carry susceptible HLA-DQ genotypes, should not be diagnosed as type 1B diabetes.	Cohort 61 diabetics with unprovoked ketosis or ketoacidosis at presentation 										
125607	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Wang, X. P.  et al. 2004	15109436				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Chinese medical journal. 2004 Apr;117(4):492-7	Association of HLA-DQB1 coding region with unexplained recurrent spontaneous abortion.		146880	17297	2	2004	 Our data suggest that URSA is associated with the HLA-DQB1 coding region, and is not associated with its upstream regulatory region. The DQB1 * 0604/0605, DQA1 * 01-DQB1 * 0604/0605, and QBP6.2-DQB1 * 0604/0605 haplotypes may confer susceptibility to URSA, while the DQB1 * 0501/0502 allele may protect women from URSA.	Case:32 patients with unexplained recurrent spontaneous:abortion;Control:54 women who had at least one successful pregnancy										
125602	Y	diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Cinek, O.  et al. 2001	15016191				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Czech		CDC GDPinfo	3117	Hs.387679			Pediatric diabetes. 2001 Sep;2(3):98-102	HLA class II genetic association of type 1 diabetes mellitus in Czech children.		146880	17292	2	2001	Since none of the remaining DRB1*04 subtypes was associated with type 1 DM, our study may present another piece of evidence that the DRB1*0401 and DRB1*0404 alleles do not modify type 1 diabetes risk generally in European populations.	Case:261 Czech children with type 1 diabetes;Control:289 non-diabetic control children										
125603		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Weets, I.  et al. 2004	15298337				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetologia. 2004 Apr;47(4):614-21	Seasonality in clinical onset of type 1 diabetes in belgian patients above the age of 10 is restricted to HLA-DQ2/DQ8-negative males, which explains the male to female excess in incidence.		146880	17293	2	2004	In a subgroup of male patients diagnosed over the age of 10, the later stages of the subclinical disease process may be more driven by sex- and season-dependent external factors than in younger, female and genetically more susceptible subjects. These factors may explain the male to female excess in diabetes diagnosed in early adulthood.	Cohort 2176 islet antibody-positive diabetic patients aged 0 to 39 years diagnosed between 1989 and 2000. 1989-2000 										
125599	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Wang, M.  et al. 2004	14990915				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China	CDC GDPinfo	3117	Hs.387679			Otolaryngology--head and neck surgery. 2004 Feb;130(2):192-6	Association between HLA class II locus and the susceptibility to Artemisia pollen-induced allergic rhinitis in Chinese population.		146880	17289	2	2004	HLA-DQA1 and -DQB1 genes may be involved in the development of Artemisia pollen-induced allergic rhinitis. HLA-DQA1*0201, DQB1*0602 alleles may be a protective factor and DQA1*0302 may be a susceptible factor for Artemisia pollen-induced allergic rhinitis.	Case:41 subjects with allergic rhinitis:Beijing;Control:41 healthy controls										
125601		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Uinuk-Ool, T. S.  et al. 2004	15009181				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2004 Feb;31(1):43-51	Variation of HLA class II genes in the Nganasan and Ket, two aboriginal Siberian populations		146880	17291	2	2004	The distribution patterns and comprehensive phylogenic analysis based on the haplotype frequencies of 17 Siberian populations suggest that the founders of both the Ket and the Nganasan came from Palaeolithic populations in the Altai-Sayan Upland.	Cohort individuals from the Nganasan and Ket aboriginal Siberian populations northern Siberia 										
125596		hypersomnolence	OTHER	OTH		6	6p21.3	HLA-DQA1	32713160	32722817		Peled, N.  et al. 2002	14592217				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Jewish		CDC GDPinfo	3117	Hs.387679			Sleep medicine. 2002 May;3(3):267-70	DRB1*1502-DQB1*0601-DQA1*0103 and DRB1*04-DQB1*0302 in Jewish hypersomnolent patients.		146880	17286	2	2002	 This is the first report describing the haplotype DRB1*1502, DQB1*0601, DQA1*0103 in narcoleptic patients (non-cataplectic). This haplotype is close but different from the already known narcoleptic haplotype DRB1*1501, DQA1*0102, DQB1*0602. We assume that this haplotype represents a variant of non-cataplectic narcolepsy rather than association with hypersomnolence. However, in order to conclude whether this haplotype is a marker for the lack of cataplexy, or represents a variant of non-cataplectic narcolepsy, a larger group of patients should be investigated.	Cohort 20 healthy Jewish patients (age 23.9+/-6.3 years; 13 Ashkenazi, seven non-Ashkenazi) who had objective measures of hypersomnolence 		HLA-DRB1	*1502	HLA-DQB1	*0601	HLA-DQA1	*0103	Y		Narcolepsy (Jewish hypersomnolent patients)
125597	Y	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kanga, U.  et al. 2004	14700595				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian	India	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Jan;65(1):47-53	HLA haplotypes associated with type 1 diabetes mellitus in north indian children		146880	17287	2	2004	The study highlights the race specificity of HLA association and disease associated HLA haplotypes in T1DM among North Indian Children.	Control:controls;Case type 1 diabetic children North India										
125594	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Jiang, Y. G.  et al. 2003	14562382				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			World journal of gastroenterology. 2003 Oct;9(10):2221-5	Association between HLA class II gene and susceptibility or resistance to chronic hepatitis B.		146880	17284	2	2003	 HLA-DRB1*0301, HLA-DQA1*0501 and HLA-DQB1*0301 are closely related with susceptibility to chronic hepatitis B, and HLA-DRB1*1101/1104 and HLA-DQA1*0301 are closely related with resistance to chronic hepatitis B. These findings suggest that host HLA class II gene is an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:54/30 patients with chronic (n=54) and acute (n=30) hepatitis B		HLA-DRB1	*0301	HLA-DQA1	*0501	HLA-DQB1	*0301	Y		chronic hepatitis B
125595	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Pena-Quintana, L.  et al. 2003	14581805				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish	Spain	CDC GDPinfo	3117	Hs.387679			Journal of pediatric gastroenterology and nutrition. 2003 Nov;37(5):604-8	Assessment of the DQ heterodimer test in the diagnosis of celiac disease in the Canary Islands (Spain).		146880	17285	2	2003	 The presence of the DQ2 (DQA1*0501/DQB1*02) heterodimer is strongly associated with celiac disease in the population studied by the authors. The value of this test derives from its ability to exclude disease when a negative result occurs.	Case:118 patients with celiac disease Gran Canaria (Canary Islands);Control:236:controls		HLA-DQ2	DQA1*0501	HLA-DQ2	DQB1*02			Y		Celiac disease
125590	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	6	6p21.3	HLA-DQA1	32713160	32722817		Ellerhorst, J. A.  et al. 2003	12771724				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			The Journal of urology. 2003 Jun;169(6):2084-8	Heterozygosity or homozygosity for 2 HLA class II haplotypes predict favorable outcomes for renal cell carcinoma treated with cytokine therapy		146880	17280	2	2003	 We conclude that heterozygosity or homozygosity for the class II haplotypes DRB1*0301/DQA1*0501/DQB1*0201 and DRB1*1501/DQA1*0102/DQB1*0602 is associated with durable response and survival in patients with metastatic renal cell carcinoma treated with cytokine therapy.	Cohort 80 patients with metastatic renal cell carcinoma who had received cytokine therapy 	cytokine	HLA-class II	DRB1*0301/DQA1*0501/DQB1*0201 haplotype	HLA-class II	DRB1*1501/DQA1*0102/DQB1*0602 haplotype			Y		metastatic renal cell carcinoma treated with cytokine therapy
125591	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Metaplasia	6	6p21.3	HLA-DQA1	32713160	32722817		Russo, A.  et al. 2003	12921878				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Nutrition (Burbank, Los Angeles County, Calif). 2003 Sep;19(9):708-15	Human Leukocyte Antigen Class II Genes and Helicobacter pylori Infection: Does GenotypeOverwhelm Environmental Exposure?		146880	17281	2	2003	 These findings suggested that H. pylori infection is not influenced by a genetic compound and confirmed the relevance of environmental exposure.	Case:68 subjects with histologically confirmed H. pylori and intestinal metaplasia;Control:70 healthy subjects without H. pylori (controls) matched for age, sex, and year of birth										
125588		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Hermann, R.  et al. 2003	12687342				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Finland	CDC GDPinfo	3117	Hs.387679			Diabetologia. 2003 Mar;46(3):420-5	Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure?		146880	17278	2	2003	Our data suggest that the need for genetic susceptibility to develop Type 1 diabetes has decreased over time due to an increasing environmental pressure and this results in a higher disease progression rate especially in subjects with protective HLA genotypes.	Case:367 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1939-1965:Finland;Case:736 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1990-2001		HLA	(DR3) -DQA1*05-DQB1*02  risk haplotype	HLA	(DR4) -DQB1*0302 risk haplotype	HLA	(DR3) -DQA1*05-DQB1*02/DRB1*0401-DQB1*0302 high risk haplotype	Y	changing environmental pressures	type 1 diabetes
125589	Y	autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Alopecia|Diabetes Mellitus, Type 1|Addison Disease|Polyendocrinopathies, Autoimmune|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Wallaschofski, H.  et al. 2003	12734793				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Germany	CDC GDPinfo	3117	Hs.387679			Horm Metab Res. 2003 Feb;35(2):120-4	HLA-DQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III.		146880	17279	2	2003	Therefore, our results indicate an association between DQA1*0301 and APS II or III since this allele was otherwise not significantly associated with any of its component diseases except alopecia. Moreover, our data imply that the allele DQA1*0301 is a marker of increased risk for further APS manifestations in patients who suffer from an organ-specific autoimmune disease.	Case:112 unrelated patients with APS II (n = 29), APS III (n:= 83);Case:184 unrelated patients with single-component diseases;Control:72 healthy controls		HLA-DQA1	*0301	HLA-DQA1	*0501			Y		autoimmune polyglandular syndrome type II and III
125585	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6p21.3	HLA-DQA1	32713160	32722817		Riyazi, N.  et al. 2003	12594107				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Dutch	Netherlands	CDC GDPinfo	3117	Hs.387679			Annals of the rheumatic diseases. 2003 Mar;62(3):227-30	HLA class II is associated with distal interphalangeal osteoarthritis.		146880	17274	2	2003	 The study group is a representative sample of the Dutch population. The HLA-DR2 allele was more common in patients with DIP OA. Furthermore, an inverse relation was observed between DIP OA and HLA-DR4. The results confirm findings from other investigations implicating HLA-DR2 as a risk factor in the development of DIP OA.	Cohort 166 consecutive patients referred to an "Early Arthitis Clinic" with different types of arthritis at an early age 										
125586		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Karell, K.  et al. 2003	12651074				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Europe	CDC GDPinfo	3117	Hs.387679			Human immunology. 2003 Apr;64(4):469-77	HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results fromthe European Genetics Cluster on Celiac Disease.		146880	17276	2	2003	These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone.	Case:1008 European celiacs										
125582		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Thomson, W.  et al. 2002	12364641				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Great Britain	CDC GDPinfo	3117	Hs.387679			Rheumatology (Oxford, England). 2002 Oct;41(10):1183-9	Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients.		146880	17271	2	2002	 This study categorically demonstrates that there are multiple HLA class II associations with JIA. It has also, for the first time, defined these associations in the seven different ILAR subgroups in UK JIA cases. Although there are a number of common associations, each ILAR subgroup exhibits different patterns of HLA associations, suggesting that the ILAR classification system does define genetically distinct groups of patients.	Case:521 UK Caucasian juvenile idiopathic arthritis patients;Control:537 UK Caucasian controls		HLA class II						Y		"arthritis, juvenile"
125584		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Perez-Luque, E.  et al. 2003	12507821				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican	Mexico	CDC GDPinfo	3117	Hs.387679			Human immunology. 2003 Jan;64(1):110-8	Protective effect of DRB1 locus against type 2 diabetes mellitus in Mexican Mestizos.		146880	17273	2	2003	These alleles associated with protection against type 2 diabetes, share glutamic acid at position-74 and were previously demonstrated to contribute to protection against type I diabetes.	Case:47 Mexican Mestizo type 2 diabetic patients central Mexico;Control:87/48 healthy subjects without family history of diabetes (n=87) and healthy subjects with family history:(n=48)										
125579	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kaur, G.  et al. 2002	12121676				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian	India	CDC GDPinfo	3117	Hs.387679			Human immunology. 2002 Aug;63(8):677-82	Pediatric celiac disease in India is associated with multiple DR3-DQ2 haplotypes.		146880	17267	2	2002	We conclude that  the high risk DR3 haplotypes that play a crucial role in the development of CD are unique in Asian Indians. Detailed analysis of these haplotypes in Indian patients with autoimmune diseases may help understand the influence of other intervening genes within the major histocompatibility complex.	Control healthy controls;Case:35 North Indian children below 15 years of age and diagnosed to have celiac disease as per the ESPGAN:criteria										
125581	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ghaderi, M.  et al. 2002	12209609				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			International journal of cancer. Journal international du cancer. 2002 Aug;100(6):698-701	Risk of invasive cervical cancer associated with polymorphic HLA DR/DQ haplotypes.		146880	17269	2	2002	A susceptibility locus in the HLA class II region is involved in a substantial fraction of the etiology of cervical cancer.	Control:120 healthy women from a population-based cohort;Case:85 cervical cancer cases from a population-based:cohort:Sweden										
125576	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Madhavan, R.  et al. 2002	12021150				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian	India	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:403-7	HLA class I and class II association with ankylosing spondylitis in a southern Indian population.		146880	17264	2	2002	None of the HLA class II alleles were significantly associated with AS. The apparent association with DRB1*11 (P = 0.03) was lost after Yates correction.	Control:37/25/124 age- and sex-matched disease controls (37 with enterogenic reactive arthritis and 25 with undifferentiated spondyloarthropathy) and healthy:controls (n=124);Case:65 patients with primary ankylosing spondylitis										
125577		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zubillaga, P.  et al. 2002	12050583				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Journal of pediatric gastroenterology and nutrition. 2002 May;34(5):548-54	HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease.		146880	17265	2	2002	 The genetic markers investigated may prove useful for diagnosing and managing celiac disease. With some clinical variables, correlations not previously described were found. These correlations have a moderate strength and, therefore, must be confirmed by other studies.	Cohort 133 patients with celiac disease 		HLA	DQ2 or DQ8	HLA-DQB1	*02 (01-02)			Y		celiac disease
125574		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Berzina, L.  et al. 2002	12021131				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Sweden	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:312-6	Newborn screening for high-risk human leukocyte antigen markers associated with insulin-dependent diabetes mellitus: the ABIS study.		146880	17262	2	2002	We conclude from our results that the high incidence of IDDM in Sweden is at least in part due to increased prevalence of high-risk HLA haplotypes compared to protective haplotypes (20% vs. 13%) in the general population.	Cohort 3756 newborns born in southeast Sweden Sweden 										
125575	Y	diabetes, type 1; blood group incompatibility	IMMUNE	IMM	Blood Group Incompatibility|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Berzina, L.  et al. 2002	12021139				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:345-8	DR3 is associated with type 1 diabetes and blood group ABO incompatibility.		146880	17263	2	2002	We conclude that  DR3 is associated with both the development of type 1 diabetes and ABO incompatibility.	Case:118 children with type 1 diabetes:Linkoping;Control:98 age- and sex-matched unrelated healthy controls										
125570		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	HLA-DQA1	32713160	32722817		Greco, L.  et al. 2002	11950806				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Gut. 2002 May;50(5):624-8	The first large population based twin study of coeliac disease.		146880	17258	2	2002	 This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.	Cohort 47 twin pairs 										
125571	Y	inflammatory myopathies	IMMUNE	IMM	Dermatomyositis|Polymyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DQA1	32713160	32722817		Horiki, T.  et al. 2002	11972875				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Japanese	Japan	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2002 Jan;59(1):25-30	HLA class II haplotypes associated with pulmonary interstitial lesions of polymyositis/dermatomyositis in Japanese patients		146880	17259	2	2002	These results suggest that in terms of HLA class II association, Japanese DM and PM, and PM with and without PI, belong to different clinical groups.	Control:62 healthy unrelated controls;Case:73 Japanese patients with myositis (32 polymyositis, 18 dermatomyositis, 23 overlapped subsets)		HLA-DRB1	*0405	HLA-DQA1	*03	HLA-DQB1	*0401	Y		pulmonary interstitial lesions of polymyositis/dermatomyositis
125572		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Evseeva, I.  et al. 2002	11972877				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2002 Jan;59(1):38-43	HLA profile of three ethnic groups living in the North-Western region of Russia		146880	17260	2	2002	Genetic distances and correspondence analysis show that Pomors have a close relationship with Norwegians and Finns, whereas Nentsy and Saami are more closely related to Oriental populations.	Cohort 55/81/73 individuals from Nentsy (55), Saami (81), and Pomor (73) populations North-European part of Russia 										
125567		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Petrone, A.  et al. 2001	11929589				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian	Italy	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Dec;58(6):385-94	The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region).		146880	17255	2	2001	We suggest that the HLA DR/DQ haplotype/genotype frequencies observed could in part explain the low incidence of type 1 diabetes registered in Lazio	Case:134 type 1 diabetic patients:Lazio, Italy										
125568		graft-versus-host disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Catassi, C.  et al. 2001	11929591				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Algeria	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Dec;58(6):402-6	The distribution of DQ genes in the Saharawi population provides only a partial explanation for the high celiac disease prevalence.		146880	17256	2	2001	We can conclude that the distribution of DQ genes in the Saharawi population only provides a partial explanation for the high prevalence of CD. Other factors, such as rapidly changing dietary habits and/or non-DQ genes, may also play some role.											
125569		multiple sclerosis; optic neuritis	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Uinuk-Ool, T. S.  et al. 2002	11935333				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human genetics. 2002 Mar;110(3):209-26	Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies.		146880	17257	2	2002	The number of alleles per population ranged from 16 to 25, from seven to eight, and from nine to 14 for the DRB1, DQA1, and DQB1 loci, respectively. The alleles at the three loci occurred in 66 different combinations (haplotypes), most of which appeared to be of ancient origin, but some may have arisen within the Siberian populations.	Cohort eight Siberian populations (Mansi, Tuva, Todja, Tofalar, Buryat, Okhotsk Evenki, Ulchi, and Negidal) 										
125565		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases	6	6p21.3	HLA-DQA1	32713160	32722817		Jaini, R.  et al. 2002	11916167				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian	India	CDC GDPinfo	3117	Hs.387679			Human immunology. 2002 Jan;63(1):24-9	Heterogeneity of HLA-DRB1*04 and its associated haplotypes in the North Indian population.		146880	17253	2	2002	These results help to explain the observed variability in DR4 associations in autoimmune diseases in Asian Indians and provide support for scientific and historical documentation of extensive admixture in the Indian subcontinent.	Cohort healthy North Indian population India 										
125566		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Van, D.  et al. 2002	11916169				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Belgium	CDC GDPinfo	3117	Hs.387679			Human immunology. 2002 Jan;63(1):40-50	Relative and absolute HLA-DQA1-DQB1 linked risk for developing type I diabetes before 40 years of age in the Belgian population: implications for futureprevention studies.		146880	17254	2	2002	This study in a large cohort of autoantibody-positive patients shows that a DQA1-DQB1-based genotyping strategy allows the identification of a subgroup representing less than 10% of the Belgian population but harbouring the majority of future type I patients arising in childhood or early adulthood. Future prediction and prevention studies should take into account the age dependency of this HLA-DQ associated risk.	Case:1866 autoantibody-positive type I patients below age 40 years recruited by the Belgian Diabetes Registry;Control:750 control subjects										
125562	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Prediabetic State	6	6p21.3	HLA-DQA1	32713160	32722817		Pietropaolo, M.  et al. 2002	11845225				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Pennsylvania	CDC GDPinfo	3117	Hs.387679			Diabetologia. 2002 Jan;45(1):66-76	Progression to insulin-requiring diabetes in seronegative prediabetic subjects: the role of twoHLA-DQ high-risk haplotypes		146880	17249	2	2002	These data provide evidence for a phenotype, which is associated with the absence of conventional islet autoantibodies at initial screening, while usually remaining seronegative, and the presence of 2 HLA-DQ high-risk haplotypes with progression to clinical Type I diabetes after a prolonged follow-up. Given the fact that in humans the highest risk-conferring locus associated and linked to the disease is the HLA cluster, and that HLA-DQ molecules play a key role in the development of autoimmune diabetes, our observations imply that as yet unidentified immunologic abnormalities could well exist in seronegative relatives at risk of developing clinical diabetes and carrying 2 HLA-DQ high-risk haplotypes.	Control:426 control subjects who did not develop insulin-requiring diabetes;Case:74 elatives of Type I diabetic patients who developed diabetes treated with insulin (prediabetics)										
125563	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Smikie, M. = F et al. 2001	11895223				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian	Jamaica	CDC GDPinfo	3117	Hs.387679			Clinical endocrinology. 2001 Dec;55(6):805-8	HLA-DRB3*0101 is associated with Graves' disease in Jamaicans.		146880	17250	2	2001	 Jamaican patients with Graves' disease share the DRB3 *0101 susceptible allele and the DRB4 *01 protective allele but not the susceptible haplotype DRB1 *0301, DRB3*0101, DQA1*0501 with Caucasians.	Control:104 controls not otherwise specified in abstract;Case:106 patients with Graves' disease:Jamaica		HLA-DRB3	*0101 (susceptible allele)	HLA-DRB4	*01 (protective allele)			Y		Graves' disease in Jamaicans
125560		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ronningen, K. S.  et al. 2001	11724418				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetologia. 2001 Oct;44 Suppl 3:B51-9	Correlations between the incidence of childhood-onset Type I diabetes in Europe and HLA genotypes		146880	17247	2	2001	The results suggest that a substantial part of the transnational variation in the incidence of childhood-onset Type I diabetes in Europe is explained by variations between populations in the distribution of particular DQ genotypes which confer a high risk of Type I diabetes in the general population.	Case type 1 diabetic cases;Control general population		HLA-DQA1	*0102	HLA-DQB1	*0602/X			Y		type 1 diabetes
125561	Y	hypertension; stroke, lacunar; atherothrombotic brain infarction	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Infarction|Hypertension|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Shen, N.  et al. 2001	11798899				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue za zhi. 2001 Mar;81(6):352-5	[A study of the hereditary susceptibility of HLA-DQA1 to essential hypertension, athrothrombotic brain infarction and lacunar stroke]		146880	17248	2	2001	 HLA-DQA1 * 0301 allele may be a correlative gene with hereditary susceptibility of EH, ABI and LS, and HLA-DQA1 * 0103 allele may be a protective gene of those diseases.	Case:155 cases of essential hypertension, athrothrombotic brain infarction and lacunar stroke;Control:64 normal individuals										
125557	Y	cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Disease Progression	6	6p21.3	HLA-DQA1	32713160	32722817		Boberg, K. M.  et al. 2001	11495087				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Scandinavian journal of gastroenterology. 2001 Aug;36(8):886-90	The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.		146880	17243	2	2001	 The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development.	Cohort 265 primary sclerosing cholangitis patients from 5 European countries 										
125559		insulin response, first phase; insulitis	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Cinek, O.  et al. 2001	11678027				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Czech		CDC GDPinfo	3117	Hs.387679			Cas Lek Cesk. 2001 Aug;140(16):492-6	[Prediction of insulin-dependent diabetes mellitus in children of first-degree relatives of diabetic patients]		146880	17245	2	2001	 We present the first IDDM prediction study in the Czech population, emphasising the utility of genetic risk investigation in the prediction scheme.	Cohort 208 non-diabetic children and adolescents, aged 10.0 +/- 5.3 (mean +/- SD), mostly siblings of diabetic children 										
125554	N	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Duodenal Ulcer|Stomach Ulcer	6	6p21.3	HLA-DQA1	32713160	32722817		Santolaria, S.  et al. 2001	11261221				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish		CDC GDPinfo	3117	Hs.387679			Gastroenterol Hepatol. 2001 Mar;24(3):117-21	[Helicobacter pylori and immunogenetic factors of the host: relevance of the HLADQA1 *0102 and *0301alleles in peptic ulcer]		146880	17240	2	2001	 The *0102 and *0301 alleles of the HLADQA1 gene did not alter susceptibility to H. pylori infection or the evolution of peptic ulcer disease in a Caucasian population in Spain.	Case:163 Caucasian patients with peptic ulcer (117 duodenal ulcers and 46 gastric ulcers; 111 with recent upper gastrointestinal hemorrhage):Spain;Control:90:controls	Helicobacter pylori									
125556		psychological distress	PSYCH	PSY		6	6p21.3	HLA-DQA1	32713160	32722817		Alaez, C.  et al. 2001	11477477			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican		CDC GDPinfo	3117	Hs.387679			Genes and immunity. 2001 Jun;2(4):216-21	DQA1 and DQB1 promoter diversity and linkage disequilibrium with class II haplotypes in Mexican Mestizo population.		146880	17242	2	2001	This knowledge is relevant as a basis to evaluate functional implications and to explore the role of promoter diversity in disease expression.	Cohort 105 healthy unrelated Mexican Mestizos 										
125551		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Mignot, E.  et al. 2001	11179016				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Japan	CDC GDPinfo	3117	Hs.387679			American journal of human genetics. 2001 Mar;68(3):686-99	Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups.		146880	17237	2	2001	Together with the recent hypocretin discoveries, these findings are consistent with an immunologically mediated destruction of hypocretin-containing cells in human narcolepsy-cataplexy.	Control:1087 unspecified controls subjects;Case:420 narcoleptic subjects with cataplexy										
125553		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	6	6p21.3	HLA-DQA1	32713160	32722817		Vos, K.  et al. 2001	11257148				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Rheumatology (Oxford, England). 2001 Feb;40(2):133-9	Evidence for a protective role of the human leukocyte antigen class II region in early rheumatoid arthritis.		146880	17239	2	2001	 The DQ3-DR4/9 haplotypes are associated with RA. The DQ5-DR1/10 haplotypes are associated with less active disease, i.e. UA, and DERAA encoding DRB1 alleles modulate either predisposition to or the severity of RA. We propose that HLA polymorphism influences not only the initiation or perpetuation of RA but also protection against the disease.	Case:195/160 rheumatoid arthritis (n=195) and undifferenciated:arthritis (n=160) patients;Control:306 controls from the same region										
125548		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Lampis, R.  et al. 2000	11115839				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Italy	CDC GDPinfo	3117	Hs.387679			Human molecular genetics. 2000 Dec;9(20):2959-65	The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases.		146880	17234	2	2000	HLA-DRB1-DQA1-DQB1 haplotypes were uniformly distributed in all regions, but at frequencies unique to Sardinia. The validity of these unrelated control HLA haplotype frequencies and our claim of homogeneity were established by demonstrating the near identity of the affected family-based control (AFBAC) HLA haplotype frequencies in 243 type 1 diabetes and 495 multiple sclerosis families from Sardinia and those of the unrelated controls. These results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs.	Control:controls;Case:243/495 type 1 diabetics (n=243) and multiple sclerosis:(n=495) families:Cohort:631 newborns from seven different regions of Sardinia:Sardinia		HLA	DRB1-DQA1-DQB1					Y		multiple sclerosis and type 1 diabetes
125549		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Kwon, O. J.  et al. 2001	11165718				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Jewish	Israel	CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 Jan;62(1):85-91	Immunogenetics of HLA class II in Israeli Ashkenazi Jewish, Israeli non-Ashkenazi Jewish, and in Israeli Arab IDDM patients		146880	17235	2	2001	These findings support the results obtained in other studies, which point to a genetic relationship between the Israeli and Mediterranean populations.			HLA-DRB1	*0402	HLA-DRB1	*0405			Y		insulin dependent diabetes mellitus (IDDM)
125545		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zipp, F.  et al. 2000	11082515				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2000 Oct;61(10):1021-30	Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2.		146880	17231	2	2000	We found a significant association with disease for the appearance of proline at position 11, arginine at position 13, and alanine at position 71 of HLA-DRbeta1. Surprisingly, we identified only residues preferentially expressed in the MS group that were related to HLA-DR2. Thus, the contribution of HLA class II to the pathogenesis of MS is not mediated by allele-overlapping antigen binding sites, but is confined to the disease associated HLA allele	Control:210 unrelated controls;Case:66 unrelated multiple sclerosis patients										
125546		renal disease, end stage	UNKNOWN	UNK	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Perez-Luque, E.  et al. 2000	11082516				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican	Mexico	CDC GDPinfo	3117	Hs.387679			Human immunology. 2000 Oct;61(10):1031-8	Contribution of HLA class II genes to end stage renal disease in mexican patients with type 2 diabetes mellitus.		146880	17232	2	2000	Diabetic patients with DRB1*1502 are 8.8 times more likely to develop ESRD, independently of the duration time of DM. DRB1*1502 contributes to the susceptibility to ESRD while DRB1*0407 is involved in protection. The residue at DRB1-74 differs in	Case:42 patients with end stage renal disease;Control:50/101 type 2 diabetes patients with no kidney complications (n=50) and normal controls (n=101)										
125542		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Airoldi, A.  et al. 2004	15548263				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	European		CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		146880	14159	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
125543		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Chuang, L.  et al. 2000	11024583				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Taiwanese	Taiwan	CDC GDPinfo	3117	Hs.387679			Diabetes research and clinical practice. 2000 Oct;50 Suppl 2:S41-7	Genetic epidemiology of type 1 diabetes mellitus in Taiwan		146880	17229	2	2000	Our studies in Taiwanese confirm a multigenetic nature for IDDM.	Case IDDM unrelated individuals and IDDM pedigrees northern Taiwan;Control normal controls northern Taiwan										
125544		jaundice	METABOLIC	MET	Jaundice	6	6p21.3	HLA-DQA1	32713160	32722817		O'Donohue, J  et al. 2000	11034591				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Gut. 2000 Nov;47(5):717-20	Co-amoxiclav jaundice: clinical and histologicalfeatures and HLA class II association.		146880	17230	2	2000	 Co-amoxiclav associated hepatotoxicity may have a genetic basis and be delayed, severe, and prolonged, although complete recovery is usual.	Cohort 22 Jaundice cases after co-amoxiclav use west of Scotland 1991-1997 	co-amoxiclav	HLA-DRB1	*1501	HLA-DQA1	*0102	HLA-DQB1 and HLA-DRB5*0101	*0602	Y	Co-amoxiclav	Co-amoxiclav associated hepatotoxicity
125540		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Donaldson, P.  et al. 2001	11171832				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Gut. 2001 Mar;48(3):397-402	HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with diseaseprogression and disease susceptibility.		146880	11757	2	2001	 These data indicate a complex relationship between immunoregulatory genes and PBC. While the IL-1 genes are markers of both disease susceptibility and progression, HLA genes appear to be principally associated with disease progression.	Cohort 164 well characterised chirrhosis patients 										
125541	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Cesari, M.  et al. 2004	15336779	TAP2*0102			Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Aug;65(8):783-93	Is TAP2*0102 allele involved in insulin-dependent diabetes mellitus (type 1) protection?		146880	14158	2	2004	In contrast with other alleles, and despite a HRR value close to 1, we show that TAP2*0102 allele contributes significantly to a drastic reduction of the diabetogenic effect of DQB1*0201-DQA1*0301.1-DRB*0701 haplotype. Indeed, this haplotype, which is usually preferentially transmitted to affected children, is dominantly transmitted to healthy children when it is associated with TAP2*0102. Therefore, this allele seems to contribute to genetic protection to IDDM.	Cohort 70 patients with insulin-dependent diabetes mellitus (IDDM) 										
125537		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Stephens, H. A.  et al. 2000	11082517				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Thai		CDC GDPinfo	3117	Hs.387679			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.		146880	11270	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
125538	Y	infertility, tubal factor	REPRODUCTION	REP	Chlamydia Infections|Fallopian Tube Diseases|Infertility, Female	6	6p21.3	HLA-DQA1	32713160	32722817		Kinnunen, A. H.  et al. 2002	12151439				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human reproduction (Oxford, England). 2002 Aug;17(8):2073-8	HLA DQ alleles and interleukin-10 polymorphism associated with Chlamydia trachomatis-related tubal factor infertility: a case-control study.		146880	11623	2	2002	 Our results reveal an association of a cellular immune response to CHSP60, HLA class II alleles and IL-10 promoter genotypes in patients with chlamydial TFI.	Case:52 tubal factor infertility cases;Control:61:controls	Chlamydia trachomatis	CHSP60		HLA	DQA1*0102 and DQB1*0602 alleles	IL-10	1082AA	Y	Chlamydia trachomatis	tubal factor infertility
125533		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Altobelli, E.  et al. 2005	16096857				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Clinical and experimental medicine. 2005 Jul;5(2):72-9	HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study.		146880	11163	2	2005												
125534		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DQA1	32713160	32722817		Xiao, F. L.  et al. 2005	16231148				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese		CDC GDPinfo	3117	Hs.387679			Archives of dermatological research. 2005 Nov;297(5):201-9	Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans.		146880	11164	2	2005												
125535		Graves' disease; Hashimoto's thyroiditis; autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Polyendocrinopathies, Autoimmune|Hashimoto Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hashimoto, K.  et al. 2005	16254435				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Japanese	Japan	CDC GDPinfo	3117	Hs.387679			Hormone research. 2005 ;64(5):253-60	Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population.		146880	11165	2	2005	 Susceptible HLA class II haplotypes of DRB1-DQA1-DQB1 for APS III differ between the Japanese and Caucasian populations. More interestingly, the susceptible HLA class II haplotypes differ among the three types of Japanese APS III and are not merely a combination of susceptibility haplotypes of each endocrine disease.											
125530	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQA1	32713160	32722817		Rodriguez-Carreon, A. A.  et al. 2005	15725578			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican		CDC GDPinfo	3117	Hs.387679			Journal of autoimmunity. 2005 Feb;24(1):63-8	Tumor necrosis factor-alpha -308 promoter polymorphism contributes independently to HLA alleles in the severity of rheumatoid arthritis in Mexicans.		146880	11157	2	2005	The data demonstrate that -308 T2 (A) allele is associated with susceptibility to develop severe RA in Mexicans. This association could be independent from HLA-DR alleles and might be used as a prognostic marker for severe RA.	Case:137 Mexican rheumatoid arthritis patients;Control:169 healthy controls										
125531		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Liu, W.  et al. 2005	15996167				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese		CDC GDPinfo	3117	Hs.387679			Annals of human genetics. 2005 Jul;69(Pt 4):382-8	HLA-DQA1, -DQB1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy in Hans of northern China.		146880	11160	2	2005												
125532		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Smith, J.  et al. 2005	16049290				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Journal of clinical pathology. 2005 Aug;58(8):860-3	Association of chronic fatigue syndrome with human leucocyte antigen class II alleles.		146880	11162	2	2005	 CFS may be associated with HLA-DQA1*01, although a role for other genes in linkage disequilibrium cannot be ruled out.											
125527		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gambelunghe, G.  et al. 2004	15522921				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Rheumatology (Oxford, England). 2005 Mar;44(3):287-92	Contribution of MHC class I chain-related A (MICA) gene polymorphism to genetic susceptibility for systemic lupus erythematosus.		146880	11153	2	2004	 Our study provides the first demonstration of the independent association of the MICA gene polymorphism with genetic risk of SLE.	Control:158 healthy controls;Case:48 Italian systemic lupus erythematosus patients										
125528		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Bejrachandra, S.  et al. 2004	15565951				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Thai	Thailand	CDC GDPinfo	3117	Hs.387679			Asian Pacific journal of allergy and immunology. 2004 Jun-Sep;22(3-Feb):143-51	HLA class II (DRB1, DQA1 and DQB1) allele and haplotype frequencies among HIV-infection discordant Thai couples.		146880	11154	2	2004	The DRB1*1602-DQA1*0101-DQB1*0502 (4.6% vs 0.0%, p = 0.024) haplotype was found to be significantly higher frequencies in HIV seropositive individuals when compared to HIV negative controls but the DRB1*1502-DQA1*0101-DQB1*0501 (1.5% vs 8.1%, p = 0.049) haplotype was lower.	Cohort 33 Thai HIV discordant couples 										
125529	Y	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	6	6p21.3	HLA-DQA1	32713160	32722817		Mullarkey, M. E.  et al. 2005	15713222				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2005 Feb;65(2):199-205	Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis.		146880	11156	2	2005	Although the DRB1*08-DQA1*0401-DQB1*04 haplotype was significantly associated with PBC, consistent with other studies, this haplotype nevertheless represented only 19% (14/72) of all PBC patients and can account for only a minority of the risk of PBC.	Control:381 healthy women;Case:72 women with primary biliary cirrhosis										
125525	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis	6	6p21.3	HLA-DQA1	32713160	32722817		Herrera-Goepfert, R.  et al. 2004	15259342				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Mexico	CDC GDPinfo	3117	Hs.387679			Gac Med Mex. 2004 May-Jun;140(3):299-303	[Association of the HLA-DQB*0501, allele of the major histocompatibility complex with gastric cancer in Mexico]		146880	11151	2	2004	According to our results, in addition to Helicobacter pylori infection, there are immunogeneic markers of the HLA-DQ region, which are determinant in confering susceptibility for gastric cancer.	Case:20 subjects suffering from gastric cancer;Control:40 subjects harboring Helicobacter pylori-associated chronic gastritis (n=40) and healthy individuals										
125526	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Amirzargar, A. A.  et al. 2004	15305487				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Iranian	Iran	CDC GDPinfo	3117	Hs.387679			The international journal of tuberculosis and lung disease. 2004 Aug;8(8):1017-21	The association of HLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis.		146880	11152	2	2004	 HLA-DRB1*07 and HLA-DQA1*0101 appeared to be the predisposing alleles and HLA-DQA1*0301 and 0501 the protective alleles in our patients with TB.	Control:100 healthy individuals;Case:40 patients with smear-positive pulmonary tuberculosis										
125522		hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DQA1	32713160	32722817		Zang, G. Q.  et al. 2004	15237447				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			World journal of gastroenterology. 2004 Jul;10(14):2116-8	Curative effects of interferon-alpha and HLA-DRB1 -DQA1 and -DQB1 alleles in chronic viral hepatitis B.		146880	11148	2	2004	 Non-response to interferon-alpha therapy is positively correlated with HLA-DRB1*04 and HLA-DQA1*0303, and negatively correlated with HLA-DQA1*0505 and -DQB1*0301 in patient with chronic viral hepatitis B. HLA II genes of the identification alleles provide a method for evaluating outcome of interferon-alpha treatment.	Cohort 60 patients with chronic viral hepatitis B Shanghai 	interferon									
125523		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Hermann, R.  et al. 2004	15250035				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	European	Hungary|Finland|Greece	CDC GDPinfo	3117	Hs.387679			Diabetes. 2004 Jul-Aug;20(4):322-9	Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence.		146880	11149	2	2004	 HLA DR-DQ-based screening is a feasible tool for the identification of individuals at increased genetic risk for type 1 diabetes in populations with diverse genetic background. The risk markers should, however, be individually selected for the target population since the screening efficiency of various markers is highly dependent on the ethnic group studied.	Case:1,739/149/119 patients with childhood-onset type 1 diabetes were recruited from Finland (n = 1739), Hungary (n = 149), and Greece (n = 119):Finland, Greece, Hungary;Control:2,568/1,047/177 Consecutive newborns (from Finland, n=2568 and Greece, n=1047) or healthy schoolchildren (n = 177 from Hungary)										
125518	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQA1	32713160	32722817		Fernandez, O.  et al. 2004	15083289				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish	Spain	CDC GDPinfo	3117	Hs.387679			Journal of neurology. 2004 Apr;251(4):440-4	DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain		146880	11144	2	2004	 Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1*0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.	Case:149 subjects with multiple sclerosis:Malaga, Spain;Control:160 subjects without multiple sclerosis										
125519		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		McCarthy, B. J.  et al. 2004	15112906				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	African American	Chicago	CDC GDPinfo	3117	Hs.387679			Journal of pediatric endocrinology & metabolism. 2004 Mar;17(3):297-306	HLA-DQA1 and -DQB1 alleles in Latino and African American children with diabetes mellitus.		146880	11145	2	2004	Many of the HLA-DQ associations previously documented in non-Hispanic White populations also are found in African Americans and Latinos with DM1, although some differences exist.	Case:45/26 African American (n=45) and Latino (=26) type 2 diabetic patients from the population-based Chicago Childhood Diabetes Registry;Control:50 healthy race-matched controls										
125515		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Fernandes, A. P.  et al. 2004	15030582				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Scandinavian journal of immunology. 2004 Mar;59(3):305-9	HLA-DQB1 Alleles May Influence the Surface Expression of DQ Molecules in Lymphomononuclear Cells of Type 1 Diabetes Mellitus Patients		146880	11140	2	2004	Although type 1 diabetes patients shared CD4/DQ or CD19/DR phenotype abnormalities, patients typed as DQB1*0201 presented additional abnormalities in terms of DQ expression and cell phenotypes bearing DQ molecules.	Case:20 patients with type 1 diabetes;Control:20 controls matched to patients for age, sex and HLA class II profile										
125516		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Paschou, P.  et al. 2004	15055351				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Albania|Greece	CDC GDPinfo	3117	Hs.387679			Journal of pediatric endocrinology & metabolism. 2004 Feb;17(2):173-82	HLA alleles and type 1 diabetes mellitus in low disease incidence populations of Southern Europe: acomparison of Greeks and Albanians.		146880	11142	2	2004	The low incidence of DM1 in these two countries correlates with the high frequency of the protective allele DQB1*0301 and the low impact of the susceptible DQB1*0302.	Control:1,842/186 Greeks (n=1,842) and Albanians (n=186) controls;Case:130/64 Greeks (n=130) and Albanians (n=64) with type 1:diabetes										
125517	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kruse, C.  et al. 2004	15070884				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human reproduction (Oxford, England). 2004 May;19(5):1215-21	A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA-DRB103 is associated with recurrent miscarriage		146880	11143	2	2004	 The HLA-DRB1*03 allele or genes in linkage disequilibrium with it confer susceptibility to RM.	Control:202:controls;Case:354 recurrent miscarriage patients										
125513	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zhang, X.  et al. 2004	15009387				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China	CDC GDPinfo	3117	Hs.387679			International journal of dermatology. 2004 Mar;43(3):181-7	HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han.		146880	11138	2	2004	 HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.	Case:189 Chinese Han patients with psoriasis;Control:273 healthy controls										
125514	N	retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Agardh, E.  et al. 2004	15019597				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Journal of diabetes and its complications. 2004 Jan-Feb;18(1):32-6	HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms do not seem to be risk markers for severe retinopathy in younger Type 1 diabetic patients.		146880	11139	2	2004	Thus, in the present study on a small group with carefully characterised diabetic retinopathy phenotypes, there was no indication that HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms were associated with severe retinopathy in younger Type 1 diabetic patients.	Cohort 24 type 1 diabetic patients 										
125510		rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hernandez-Pacheco, G.  et al. 2003	14602216				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican	Mexico	CDC GDPinfo	3117	Hs.387679			International journal of cardiology. 2003 Nov;92(1):49-54	MHC class II alleles in Mexican patients with rheumatic heart disease.		146880	11135	2	2003	 Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients.	Case:98 Mexican Mestizo patients with rheumatic heart:disease;Control:99 healthy controls		HLA-DR16	DRB1*1602	HLA	DR16-DQA1*0501-DQB1*0301 haplotype			Y		rheumatic heart disease
125511		respiratory papillomatosis, juvenile-onset; recurrent	UNKNOWN	UNK	Papilloma|Respiratory Tract Neoplasms|Recurrence	6	6p21.3	HLA-DQA1	32713160	32722817		Gregoire, L.  et al. 2003	14623754				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	African American		CDC GDPinfo	3117	Hs.387679			Archives of otolaryngology--head & neck surgery. 2003 Nov;129(11):1221-4	HLA-DQ alleles in white and African American patients with juvenile-onset recurrent respiratory papillomatosis.		146880	11136	2	2003	 HLA-DQalpha and -DQbeta1 alleles occur at different frequencies in African American and white children with RRP than controls. Specific alleles influence risk for RRP. Allele and haplotype frequencies have some influence on disease course, but were independent of human papillomavirus type.	Case:48 children treated for juvenile-onset recurrent respiratory papillomatosis;Control:80/80 African American (n=80) and Caucasian (n=80) controls seen at the hospital for other conditions	human papillomavirus									
125507	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	HLA-DQA1	32713160	32722817		Gao, J.  et al. 2003	12890388				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China	CDC GDPinfo	3117	Hs.387679			Chinese medical journal. 2003 Jul;116(7):1078-82	Association between HLA-DQA1, -DQB1 gene polymorphisms and susceptibility to asthma in northern Chinese subjects.		146880	11132	2	2003	 HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma. Asthma and atopy are multifactorial disorders, HLA-DQA1 and DQB1 genes are involved in the regulation of immune specific response to common allergen.	Case:125 unrelated asthmatic individuals;Control:96 healthy controls without asthma and atopy from the same ethnic origin	beta(2)-agonist methacholine									
125508		diabetes, type 1	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kim, E. Y.  et al. 2003	12911285				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Korean		CDC GDPinfo	3117	Hs.387679			Autoimmunity. 2003 May;36(3):177-81	Polymorphisms of HLA class II predispose children and adolescents with type 1 diabetes mellitus to autoimmune thyroid disease.		146880	11133	2	2003	Our results suggest that HLA DQB1*0401 is a predisposing genetic marker for the development of AITD in patients with type 1 DM in Korea.	Case:69 patients with type 1 diabetes:Korea;Control:75/21 normal healthy controls (n=75) and patients with autoimmune thyroid disease										
125505		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Donaldson, P. T.  et al. 2002	12765483				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Autoimmunity. 2002 Dec;35(8):555-64	Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis		146880	11129	2	2002	Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively.	Control:134:controls;Case:148 adult white northern European primary sclerosing cholangitis patients		MICA	*008	HLA	DRB3*0101--DRB1*0301--DQA1*0501--DQB1*0201 and DRB1*1301--DQA1*0103--DQB1*0603 haplotype			Y		"cholangitis, sclerosing"
125506		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Hoarau, J. J.  et al. 2003	12786999				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	African	India|Reunion	CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2003 Jun;30(3):207-11	Comparison of TAP2 frequencies in type 1 diabetes patients and healthy controls from three ethnic groups indicates an African origin for the TAP2 G allele.		146880	11131	2	2003	This observation is consistent with the view that this allele is restricted to populations of African origin. In addition, we have determined the large extended haplotype DQA1-DQB1-DRB1 associated with TAP2 G. We found that this allele is preferentially associated with the large conserved haplotype HLA DQA1*0501-DQB1*0201-DRB1*0301.	Case type 1 diabetic patientsof three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius);Control unrelated healthy controls of three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius)										
125502	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Vejbaesya, S.  et al. 2002	12358854				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Thai	Thailand	CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2002 Oct;29(5):431-4	Associations of HLA class II alleles with pulmonary tuberculosis in Thais.		146880	11125	2	2002	Our results suggest that HLA-DQB1*0502 may be involved in the development of pulmonary tuberculosis, whereas HLA-DQA1*0601 and DQB1*0301 may be associated with protection against tuberculosis.	Control:160 normal controls;Case:82 patients with tuberculosis:Bangkok										
125503	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Cinek, O.  et al. 2003	12639765				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Czech	Czech Republic	CDC GDPinfo	3117	Hs.387679			Diabetes research and clinical practice. 2003 Apr;60(1):49-56	NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.		146880	11126	2	2003	Our results confirm that the NEUROD Ala45Thr polymorphism is associated with childhood-onset Type 1 DM.	Case:285 Czech children with type 1 diabetes mellitus;Control:289 non-diabetic control children										
125504	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-DQA1	32713160	32722817		Wei, S.  et al. 2002	12667357				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua liu xing bing xue za zhi. 2002 Dec;23(6):445-8	[Study of the association between HLA-DQA1 alleles and environmental factors in psoriasis]		146880	11128	2	2002	 (1) HLA-DQA(1)*0104 and DQA(1)*0201 alleles might be the susceptible genes or it may have close linkage with the susceptible gene. HLA-DQA(1)*0501 allele had protective effect against the development of type I psoriasis. (2) The HLA-DQA(1)*0104 and DQA(1)*0501 alleles increased risk possibility of environmental factors in type I psoriasis.	Case:144 type I psoriatics;Control:273 healthy people										
125499	Y	pemphigoid, bullous	OTHER	OTH	Pemphigoid, Bullous	6	6p21.3	HLA-DQA1	32713160	32722817		Gao, X. H.  et al. 2002	12139680				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Japanese	China	CDC GDPinfo	3117	Hs.387679			Clinical and experimental dermatology. 2002 Jun;27(4):319-21	HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China.		146880	11122	2	2002	This result is strikingly different from previous reports that DQB1*0301 is associated with BP in Caucasian patients and DRB1*1101, DQB1*0302, DRB1*04/DQA1*0301/DQB1*0302 and DRB1*1101/ DQA1*0505/DQB1*0302 with Japanese BP patients. Ethnic differences in the polymorphic composition of the HLA-DR and DQ genes may influence genetic susceptibility to BP.	Case:25 bullous pemphigoid patients northern China;Control:57 normal controls										bullous pemphigoid
125500		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Alaez, C.  et al. 2002	12144622			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2002 May;59(5):388-96	Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico.		146880	11123	2	2002	The allele frequency (AF) of the prevalent DRB1 alleles were DRB1*0407 (48.4%), DRB1*0802 (33.9%) and DRB1*1402 (16.1%). The most frequent DQA1 and DQB1 alleles were DQA1*03011 (AF = 50.00%), DQA1*0401 (AF = 33.87%) and DQA1*0501 (AF = 16.13%); DQB1*0302 (AF = 50.00%), DQB1*0402 (33.87%) and DQB1*0301 (16.13%); which were in combination with DRB1*0407, DRB1*0802 and DRB1*1402, respectively.	Cohort 31 unrelated Seri, a Mexican Indian group Sonora (Northwest Mexico) 										
125496		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Fernandez, L.  et al. 2002	12074713				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Spain	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2002 Mar;59(3):219-22	Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease.		146880	11119	2	2002	Our results indicate that although there is no primary association between MICA polymorphism and CD, there is, in addition to HLA-DQ, a second susceptibility locus on the 8.1 ancestral haplotype in strong linkage disequilibrium with MICA A5.1 allele.											
125497	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Nagore, E.  et al. 2002	12125959				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish	Spain	CDC GDPinfo	3117	Hs.387679			Acta dermato-venereologica. 2002 ;82(2):90-3	Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanoma.		146880	11120	2	2002	Our results indicate that HLA class II alleles may not contribute to a strong susceptibility to melanoma in the Spanish population, although further studies on larger series are needed to corroborate this.	Control:367 random healthy donors, from the same geographic:area;Case:82 Spanish patients with melanoma										
125498		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-DQA1	32713160	32722817		Grubic, Z.  et al. 2002	12137324				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Croatia	CDC GDPinfo	3117	Hs.387679			Collegium antropologicum. 2002 Jun;26(1):61-7	HLA class II haplotypic association and DQCAR microsatellite polymorphisms in Croatian patients with psoriasis.		146880	11121	2	2002	These data suggest that HLA-DRB*0701 haplotypic combinations are associated with type I but not for type II psoriasis in the Croatian population. DQCAR polymorphism is not useful genetic marker to distinguish susceptible HLA class II haplotypic association.	Control:controls;Case:78 Croatian patients with psoriasis										
125494		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Fernandes, A. P.  et al. 2002	12021129				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Brazil	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:305-8	HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus.		146880	11116	2	2002	Although the Brazilian population is highly miscegenated, HLA-DRB1*301, DRB1*04, DQB1*0302, and DQB1*0201 alleles, which are associated with the development of type 1 diabetes in several Western populations, were also overrepresented in Brazilian patients. In addition to HLA-DRB1*15 and DQB1*0602 alleles, DRB1*11, DRB1*13, and DQA1*01 allele groups were associated with protection against the development of type 1 diabetes in Brazilian patients.	Case:64 Brazilian patients presenting with type 1 diabetes:mellitus:Brasil										
125495	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Parthiban, M.  et al. 2002	12021152				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian	India	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2002 Apr;958:412-5	Class II MHC alleles in rheumatoid arthritis in Tamilnadu, India: is there an association?		146880	11118	2	2002	No allele was found to be significantly associated with RA. However DRB1*11 (P = 0.01) and DQB1*0302 (P = 0.02) were significantly associated with rheumatoid factor-positive RA patients. (All the DRB1*11-positive RA patients had either *04 or *10 allele as their second allele. This study is first of its kind in this population.	Case:30 patients with rheumatoid arthritis:Tamilnadu, India;Control:39 healthy controls										
125490		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Backman, V. M.  et al. 2002	11914753				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Icelandic	Iceland|Norway	CDC GDPinfo	3117	Hs.387679			Diabetologia. 2002 Mar;45(3):452-3	HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandicand Norwegian populations.		146880	11111	2	2002	The results on the distribution of HLA DR and DQ risk alleles, haplotypes and genotypes in Icelandic Type I diabetic patients are in line with previous findings in other Caucasian populations. We have shown that the difference between the incidene of Type 1 diabetes in Iceland and Norway connot be explained solely on the bases of major differences in distribution and frequency of the known HLA class II genes.	Case:106 Icelandic Type 1 diabetic patients:Iceland;Control:148 healthy controls										
125492		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gao, J.  et al. 2002	11953202				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		China	CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue za zhi. 2002 Mar;82(6):379-83	[Relationship between HLA-DQA1, -DQB1 genes polymorphism and susceptilibity to bronchial asthma among Northern Hans]		146880	11114	2	2002	 The alleles HLA-DQA1 * 0104 and HLA-DQB1 * 0201 are correlated with the susceptibility to asthma among Northern of Han nationality. HLA-DQA1 * 0104 is an independent risk factor of onset of asthma. The alleles HLA-DQA1 * 0301 and HLA-DQB10301 are correlated with resistance against asthma. HLA-DQ genes are involved in the regulation of human specific immune responses.	Case:125 Han unrelated asthmatics northern China;Control:96 Han healthy controls										
125488		anaphylactoid purpura	UNKNOWN	UNK	Joint Diseases|Gastrointestinal Diseases|Kidney Failure|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ren, S.  et al. 2002	11836690				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		China	CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):58-60	[Correlation between HLA-DQA1 allele and anaphylactoid purpura in juvenile Hans residing in Inner Mongolia]		146880	11109	2	2002	 The allele of HLA-DQA1*0301 was probably a susceptible gene while HLA-DQA1*0302 was the protective one in AP of the children who were Han inhabitants in Inner Mongolia. The results of this study also revealed that patients with the allele of HLA-DQA1*0301 tended to involve gastrointestinal, joint and renal impairment.	Case:70 Han children with anaphylactoid purpura:Mongolia;Control:90 normal controls										
125489	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Lopez-Vazquez, A.  et al. 2002	11862400				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Immunogenetics. 2002 Feb;53(11-Oct):989-91	MICA-A5.1 allele is associated with atypical forms of celiac disease in HLA-DQ2-negative patients.		146880	11110	2	2002	The presence of MICA-A5.1 in atypical CD DQ2-negative patients may indicate a possible role of this allele in the development of CD.	Case:38 consecutive patients with celiac disease (from a group of 316 consecutive CD patients);Control:91 healthy blood donors										
125484	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DQA1	32713160	32722817		Lin, Q.  et al. 2001	11783381				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua fu chan ke za zhi. 2001 May;36(5):293-5	[The study on human leucocyte antigen DQ region genes polymorphism in unexplained habitual abortion patients]		146880	11105	2	2001	 The results suggest that DQB1 * 0604,0605 allele and DQA1 * 01/DQB1 * 0604,0605 haplotype may be a susceptible gene and haplotype of unexplained habitual abortion, while DQB1 * 0501,0502 allele may be a protective factor for habitual abortion.	Case:32 cases of unexplained habitual abortion;Control:54 women with normal pregnancy history										
125485	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DQA1	32713160	32722817		Guo, X.  et al. 2001	11802952				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua jie he he hu xi za zhi. 2001 Mar;24(3):139-41	[Association between asthma and the polymorphism of HLA-DQ genes]		146880	11106	2	2001	 HLA-DQA1* 0101, DQA1 * 0601 and HLA-DQB1 * 0303, DQB1 * 0601 may be the susceptible alleles of asthma. HLA-DQB1 * 0201 allele may limit the specific IgE response to dermatophagoides.	Control:67 normal controls;Case:98 members of 32 Chinese asthma families										
125486	Y	Vogt-Koyanagi-Harada syndrome	UNKNOWN	UNK	Uveomeningoencephalitic Syndrome|Disease Susceptibility	6	6p21.3	HLA-DQA1	32713160	32722817		Liu, Q.  et al. 1999	11835809				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese		CDC GDPinfo	3117	Hs.387679			Chinese journal of ophthalmology. 1999 May;35(3):210-5	[Association of HLA-DQA1 and DQB1 alleles with Vogt-Koyanagi-Harada syndrome in Han Chinese population]		146880	11107	2	1999	 The results suggest that DQA1 * 0301-DQB1 * 0401 and DRB1 * 15-DQA1 * 0102-DQB1 * 0602/3 be associated with the susceptibility in VKH. On the other hand, DQA1 * 0103-DQB1 * 0601 may play a role in resisting against VKH syndrome.	Case patients with Vogt-Koyanagi-Harada syndrome;Control:50 healthy controls										
125481		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DQA1	32713160	32722817		Lin, Q.  et al. 2000	11776160				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua fu chan ke za zhi. 2000 Apr;35(4):208-11	[Study on human leucocyte antigen-DQ region gene polymorphism in cases of habitual abortion with anticardiolipin antibody]		146880	11102	2	2000	 The results show an association between ACL(+) habitual abortion and HLA-DQB1 * 0303, which suggest DQB1 * 0303 may be susceptible gene to ACL(+) habitual abortion.	Case:30 cases of habitual abortion;Control:90 women with normal pregnancy history										
125483		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Sanchez-Velasco, P.  et al. 2001	11782273				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Oct;58(4):223-33	The HLA class I and class II allele frequencies studied at the DNA level in the Svanetian population (Upper Caucasus) and their relationships to Western European populations.		146880	11104	2	2001	DRB1*1101-DQA1*0501-DQB1*0301 and DRB1*1301-DQA1*0103-DQB1*0603 haplotypes were found in Svans at the highest frequency. The second most frequent three-locus haplotypes in this population were DRB1*0701-DQA1*0201-DQB1*0201 and DRB1*1301-DQA1*0103-DQB1*0602. Furthermore, the following 5-locus extended haplotypes were not	Cohort Svans Greater Caucasus in the Republic of Georgia 										
125478	Y	measles antibody level	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817		Poland, G. A.  et al. 2001	11672906				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Vaccine. 2001 Nov;20(4-Mar):430-8	Identification of an association between HLA class II alleles and low antibody levels after measles immunization.		146880	11099	2	2001	These findings are crucial in designing both measles eradication by the use of vaccine, and future vaccines to be used in genetically heterozygous populations.	Cohort 242 individuals who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
125479		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Amirzargar, A.  et al. 2001	11704285				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Iranian		CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 Nov;62(11):1234-8	Human leukocyte antigen class II allele frequencies and haplotype association in Iranian normal population.		146880	11100	2	2001	Data presented in this study suggest that the Iranian population shares some HLA components with populations resident in eastern and southern European countries.	Cohort 100 unrelated Iranian individuals Fars province, Southern Iran 										
125480		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome	6	6p21.3	HLA-DQA1	32713160	32722817		Li, H.  et al. 2000	11776098				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Chinese medical journal. 2000 May;113(5):429-32	HLA alleles in patients with Guillain-Barre syndrome.		146880	11101	2	2000	 The increasing tendency of the two alleles suggests that there may be some relation between genetic factors and immunological factors, but a definite conclusion waits for more cases.	Case:47 Guillain-Barre syndrom patients;Control:50 normal controls										
125475	Y	HIV; sclerosis, systemic	INFECTION	INF	Sjogren's Syndrome	6	6p21.3	HLA-DQA1	32713160	32722817		Nakken, B.  et al. 2001	11555411				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Norway	CDC GDPinfo	3117	Hs.387679			Scandinavian journal of immunology. 2001 Oct;54(4):428-33	Associations of MHC class II alleles in Norwegian primary Sjogren's syndrome patients: implicationsfor development of autoantibodies to the Ro52 autoantigen.		146880	11096	2	2001	This study shows that the production of anti-Ro52 autoantibodies in pSS is associated with the DRB1*0301, DRB3*0101, DQA1*0501 and DQB1*0201 alleles which are in strong linkage disequilibrium.	Case a group of primary sjogren's syndrome patients:Norway;Control a group of healthy controls										
125476	N	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Tuysuz, B.  et al. 2001	11556984				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Turkish	Turkey	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Jun;57(6):540-2	HLA-DQ alleles in patients with celiac disease in Turkey.		146880	11097	2	2001	No statistically significant correlation was found between the homozygosity of this haplotype or the DQB1*02 allele and an earlier onset of the disease.	Control:50 control subjects;Case:55 Turkish children with celiac disease:Turkey										
125477		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DQA1	32713160	32722817		Pimtanothai, N.  et al. 2001	11580849				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2001 Jul;58(1):8-Jan	HLA-DR and -DQ polymorphism in Cameroon.		146880	11098	2	2001	In summary, this study of HLA class II polymorphism in Cameroon demonstrates the extent of diversity in this population.	Cohort 126 healthy individuals Cameroon 										
125472		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQA1	32713160	32722817		Seidl, C.  et al. 2001	11334677				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 May;62(5):523-9	Protection against severe disease is conferred by DERAA-bearing HLA-DRB1 alleles among HLA-DQ3 and HLA-DQ5 positive rheumatoid arthritis patients.		146880	11092	2	2001	These results demonstrate a protective role of (70)DERAA(74)-positive DRB1 alleles against disease severity among RA patients.	Control:196 healthy controls;Case:199 rheumatoid arthritis patients:Germany										
125473	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Castro, F.  et al. 2001	11454644				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Peru	CDC GDPinfo	3117	Hs.387679			Annals of the rheumatic diseases. 2001 Aug;60(8):791-5	Tumour necrosis factor microsatellites and HLA-DRB1*, HLA-DQA1*, and HLA-DQB1* alleles in Peruvian patients with rheumatoid arthritis.		146880	11093	2	2001	 This study shows for the first time that TNF gene polymorphism is associated with susceptibility to RA in a non-white population. TNFalpha6 and HLA-DRB1*1402 independently conferred significantly increased risk in Peruvian mestizo patients.	Control:65 ethnically matched healthy controls;Case:79 patients with rheumatoid arthritis										
125469		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Caliz, R.  et al. 2001	11157139				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Rheumatology (Oxford, England). 2001 Jan;40(1):31-6	HLA class II gene polymorphisms in antiphospholipid syndrome: haplotype analysis in 83 Caucasoidpatients.		146880	11088	2	2001	 These alleles and haplotypes might affect anti-ss2GPI production and APS development in different and heterogeneous fashion.	Control:177 healthy controls;Case:83 Caucasoid British patients with APS										
125471	Y	Carbamazepine hypersensitivity	UNKNOWN	UNK	Drug Hypersensitivity	6	6p21.3	HLA-DQA1	32713160	32722817		Pirmohamed, M.  et al. 2001	11294926			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Neurology. 2001 Apr;56(7):890-6	TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients.		146880	11090	2	2001	 The TNF2 allele was associated with severe, but not nonserious, carbamazepine hypersensitivity reactions, suggesting that hypersecretion of tumor necrosis factor alpha may be a determinant of the severity of tissue damage. However, the association of the TNF2 allele with carbamazepine hypersensitivity was not independent of HLA-DR3 and -DQ2, and therefore the possibility that it constitutes a passive component of the TNF2-DR3-DQ2 haplotype cannot be excluded.	Case:23 serious carbamazepine-hypersensitive reactive:subjects;Control:313 controls(63 patients on carbamazepine without adverse effects and 250 healthy volunteers);Case:37 nonserious carbamazepine-hypersensitive reactive:subjects	carbamazepine									
125466		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DQA1	32713160	32722817		Yao Z 1993	8406614				major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Europe	Y Wang	3117	Hs.387679			Immunogenetics. 1993 ;38(6):421-9	Polymorphism of the DQA1 promoter region (QAP) and DRB1, QAP, DQA1, DQB1 haplotypes in systemic lupus erythematosus. SLE Study Group members.		146880	3144	1	1993												
125467	Y	Graves disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Yanagawa T et al. 1993	8501164	HLADQA1 *0501			Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	caucasian		KGB	3117	Hs.387679			The Journal of clinical endocrinology and metabolism. 1993 Jun;76(6):1569-74	Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population.		146880	7977	1	1993												
125468		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Maciag, P. C.  et al. 2000	11097225				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Brazil	CDC GDPinfo	3117	Hs.387679			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1183-91	Major histocompatibility complex class II polymorphisms and risk of cervical cancer and human papillomavirus infection in Brazilian women		146880	11087	2	2000	We suggest that HLA class II polymorphisms are involved in genetic susceptibility to cervical cancer and HPV infection in a Brazilian population from an area with a high incidence of this neoplasia.	Case:161 cases of cervical cancer:Brasil;Control:257:controls	papilloma virus									
125464	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zong L et al. 2001	11718025				major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese	China	KGB	3117	Hs.387679			Zhonghua fu chan ke za zhi. 2001 Jul;36(7):405-7	Association of human leukocyte antigen-DQA1 with endometriosis of women in southern China		146880	3142	1	2001	 Our result indicated that HLA-DQA1 * 0401 may be a susceptible gene in correlation with endometriosis, whereas HLA-DQA1 * 0301 may be a protective gene against endometriosis.											
125465	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	HLA-DQA1	32713160	32722817		Gao J 2003	12890388				major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	chinese	China	KGB	3117	Hs.387679			Chinese medical journal. 2003 Jul;116(7):1078-82	Association between HLA-DQA1, -DQB1 gene polymorphisms and susceptibility to asthma in northern Chinese subjects.		146880	3143	1	2003	 HLA-DQA1 * 0104 allele and HLA-DQB1 * 0201 allele were implicated in susceptibility to asthma and atopy, HLA-DQA1 * 0301 allele and HLA-DQB1 * 0301 might be protective factor against asthma. Asthma and atopy are multifactorial disorders, HLA-DQA1 and DQB1 genes are involved in the regulation of immune specific response to common allergen.	Case:125 unrelated asthmatic individuals;Control:96 healthy controls without asthma and atopy from the same ethnic origin	beta(2)-agonist methacholine									
125460		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		142858	26122	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
125461		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Philippines	CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142858	26932	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
125458		pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Kawa, S.  et al. 2002	11984513				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Japanese	Japan	CDC GDPinfo	3115	Hs.485130			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		142858	26120	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)										
125459	Y	graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-DPB1	33151737	33162954		Shaw, B. E.  et al. 2003	12774051				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		142858	26121	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
125456		lymphoma	CANCER	CAN		6	6p21.3	HLA-DPB1	33151737	33162954		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Tunisian		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		142858	26118	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
125457		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Saito, S.  et al. 2000	11169242				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Japanese		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		142858	26119	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
125454		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-DPB1	33151737	33162954		Bera, O.  et al. 2001	11285127				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2001 Mar;57(3):200-7	HLA class I and class II allele and haplotype diversity in Martinicans.		142858	24639	2	2001	In the whole, using PCR-based genotyping methods for HLA class I and class II loci, this study allows a preliminary description of HLA allele distribution in this Caribbean island and gives new elements which may be helpful in the anthropologic field as well as in HLA and disease association studies.	Cohort 100 Martinicans (admixture between African and French Caucasians) Martinicans 										
125455	Y	pulmonary hypertension; thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Embolism|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Tanabe, N.  et al. 2005	15640334				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Japan	CDC GDPinfo	3115	Hs.485130			The European respiratory journal. 2005 Jan;25(1):131-8	Association of clinical features with HLA in chronic pulmonary thromboembolism		142858	24640	2	2005	These observations suggested that both the susceptibility and clinical characteristics of chronic thromboembolic pulmonary hypertension were controlled in part by the HLA-B and -DPB1 loci.	Control:678:conrols;Case:80 Japanese patients with chronic thromboembolic pulmonary hypertension										
125452		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-DPB1	33151737	33162954		Hildesheim, A.  et al. 2002	12464650				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese	Taiwan	CDC GDPinfo	3115	Hs.485130			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		142858	24637	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
125453	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Donaldson, P. T.  et al. 2002	12100571				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		142858	24638	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
125450		leishmaniasis	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Olivo-Diaz, A.  et al. 2004	15041165				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Human immunology. 2004 Mar;65(3):255-61	Role of HLA class II alleles in susceptibility to and protection from localized cutaneous leishmaniasis		142858	21817	2	2004	Resistance was found associated to DPB1*0401, thus *0401 "motif" could be an ideal candidate for the development of a vaccine. DR2 (DRB1*1500+DRB1*1600) has also a significant p for protection, suggesting that the sequence common to this group of antigens may anchor parasite peptides which trigger a protective response.	Control:100 healthy controls;Case:65 patients with localized cutaneous leishmaniasis										
125451		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Migot-Nabias, F.  et al. 2001	11294566				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Gabon	CDC GDPinfo	3115	Hs.485130			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		142858	24636	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
125448		measles	INFECTION	INF		6	6p21.3	HLA-DPB1	33151737	33162954		Gendzekhadze, K.  et al. 2004	15603877				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Venezuelan Amerindian		CDC GDPinfo	3115	Hs.485130			Human immunology. 2004 Dec;65(12):1483-8	HLA-DP polymorphism in Venezuelan Amerindians.		142858	21815	2	2004	Some HLA-DPB1 (*0402 and *1401) alleles characteristic for all Amerindian tribes are present also in these populations. Despite general similarities, each tribe and, in some cases, some subtribes show their own pattern of allele and haplotype distribution apparently more as a result of linguistic than to geographic variation.	Cohort individuals from 3 different Venezuelan Amerindian tribes 										
125449	N	nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-DPB1	33151737	33162954		Zhou, J.  et al. 2003	12778461				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):262-4	[Association study on HLA-DP and -DQ allelic polymorphisms and nasopharyngeal carcinoma in the Han nationality in Hunan province]		142858	21816	2	2003	 No significant association between the HLA-DP and HLA-DQ loci and NPC in Han nationality in Hunan province was confirmed.	Case:87 Chinese Han nasopharyngeal cancer patients Hunan province, China;Control:91 normal controls										
125446		measles	INFECTION	INF		6	6p21.3	HLA-DPB1	33151737	33162954		Velickovic, Z. M.  et al. 2001	11556979				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Australian		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2001 Jun;57(6):493-501	HLA-DPA1 and DPB1 polymorphism in four Pacific Islands populations determined by sequencing based typing.		142858	21813	2	2001	Significant differences in DPA1 and DPB1 allele and haplotype frequencies were observed between Tokelauan and other three populations. Phylogenetic analysis of genetic distances between the four Pacific Island populations and other Asian Oceanian populations have shown that Cook Islanders, Samoans and Tongans are more closely related to Asian populations whereas Tokelauans cluster towards non-Austronesian populations of Papua New Guinea Highlanders and Australian Aborigines.	Cohort four Pacific Island populations of Cook Islands, Samoa, Tokelau and Tonga New Zealand 										
125447		juvenile arthritis; measles	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Perez-Miranda, A. M.  et al. 2004	15304007				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Spanish		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2004 Sep;64(3):264-75	Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain).		142858	21814	2	2004	Various evolutionary forces were considered in discussing the origin of the spatial structuring of	Cohort Basques from Navarre Navarre, Spain 										
125444		leukemia, chronic lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Chronic	6	6p21.3	HLA-DPB1	33151737	33162954		Machulla, H. K.  et al. 2001	11291046				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Germany	CDC GDPinfo	3115	Hs.485130			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):203-7	Association of chronic lymphocytic leukemia with specific alleles of the HLA-DR4:DR53:DQ8 haplotypein German patients		142858	21811	2	2001	Our results suggest that factors within or close to the human MHC class II region confer susceptibility to CLL.	Case:101 CLL patients:Germany;Control:157 healthy controls:Germany										
125445		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Moraes, M. E.  et al. 2004	15194283				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Brazilian		CDC GDPinfo	3115	Hs.485130			Transplantation proceedings. 2004 May;36(4):823-4	Strong linkage disequilibrium between HLA-B*3913 and DRB1*0807 in Brazilians.		142858	21812	2	2004	Although numbers are small to predict which ethnic groups of the Brazilian population display this haplotype prevalently, it is possible to speculate that these data may have clinical application, such as in the selection of unrelated donors for bone marrow transplantation.	Cohort 2,560 healthy unrelated randomly selected individuals southeastern region of Brazil 										
125441		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DPB1	33151737	33162954		Forre, O.  et al. 2002	12195624				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		142858	20022	2	2002	Review article											
125442		scleroderma; jaundice	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Tsuchiya, K.  et al. 2001	11929590				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Japan	CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2001 Dec;58(6):395-401	Combination of HLA-A and HLA class II alleles controls the susceptibility to rheumatoid arthritis.		142858	21809	2	2001	Our results suggested the possibility that the susceptibility to RA is controlled by the interaction of HLA-A and DRBl genes or by that of HLA-A and DPBl genes in different patient subgroups.											
125443		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954			16386646				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Southwestern American Indian		CDC GDPinfo	3115	Hs.485130			Human immunology. 2005 Oct;66(10):1050-6	HLA Alleles and Risk of Cervical Intraepithelial Neoplasia Among Southwestern American Indian Women		142858	21810	2	2005												
125438		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Chaudhuri, S.  et al. 2000	11027344				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Proceedings of the National Academy of Sciences of the United States of America. 2000 Oct;97(21):11451-4	Genetic susceptibility to breast cancer: HLADQB*03032 and HLA DRB1*11 may represent protective alleles.		142858	17467	2	2000	HLA DQB*03032 and HLA DRB1*11 alleles may have a protective role in human breast cancer.	Case:176 Caucasian women diagnosed with early-onset breast:cancer;Control:215 ethnically matched controls										
125440		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DPB1	33151737	33162954		Runstadler, J. A.  et al. 2004	15343265				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Finnish	Finland	CDC GDPinfo	3115	Hs.485130			Genes and immunity. 2004 Nov;5(7):562-71	HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: morecomplexity within the MHC.		142858	19754	2	2004	This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.	Case:234 Finnish JIA nuclear families:Finland;Control:639 elderly Finnish contol individuals										
125435	Y	asthma; urticaria	IMMUNE	IMM	Urticaria	6	6p21.3	HLA-DPB1	33151737	33162954		Kim, S. H.  et al. 2005	15784113				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Korea	CDC GDPinfo	3115	Hs.485130			Clinical and experimental allergy. 2005 Mar;35(3):339-44	The human leucocyte antigen-DRB1*1302-DQB1*0609-DPB1*0201 haplotype may be a strong genetic marker for aspirin-induced urticaria.		142858	17421	2	2005	 These findings suggest that the HLA-DRB1(*)1302-DQB1(*)0609-DPB1(*)0201 may be a strong genetic marker to determine the aspirin-induced urticaria phenotype.	Control:185 normal healthy controls;Case:94/76 aspirin-induced urticaria patients presenting urticaria/angioedema-induced by both ASA and NSAID (n=94) and aspirin-intolerant asthmatics (n=76):Korea										
125436	Y	atopy	IMMUNE	IMM	Respiratory Hypersensitivity	6	6p21.3	HLA-DPB1	33151737	33162954		Kinnunen, T.  et al. 2005	15969672				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Clinical and experimental allergy. 2005 Jun;35(6):797-803	The DR4-DQ8 haplotype and a specific T cell receptor Vbeta T cell subset are associated with absence of allergy to Can f 1.		142858	17429	2	2005	 The DR4-DQ8 haplotype and the TCR Vbeta5.1(+) CD4(+) T cells may be protective against allergy to Can f 1.		dog allergen									
125437	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Marrosu, M. G.  et al. 2005	16096810				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Journal of neurology. 2005	Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population.		142858	17435	2	2005												
125432		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Lin, J. H.  et al. 2003	12878363				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese		CDC GDPinfo	3115	Hs.485130			Human immunology. 2003 Aug;64(8):830-4	Molecular analyses of HLA-DRB1, -DPB1, and -DQB1 in Jing ethnic minority of Southwest China.		142858	17381	2	2003	The comparison of HLA class II allele and haplotype frequencies in Jing with those in other populations all over the world and a dendrogram based on the DRB1, DQB1 and DPB1 genes suggested that Jing ethnic population has an origin of Southeast Asia and is belonged to the southern group of Chinese populations.	Cohort 144 random selected Jing ethnic individuals South China 										
125434		sclerosis, systemic	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic	6	6p21.3	HLA-DPB1	33151737	33162954		Tikly, M.  et al. 2004	15104683				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	South African	Africa, Southern	CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2004 May;63(5):487-90	Human leukocyte antigen class II associations with systemic sclerosis in South Africans		142858	17395	2	2004	The association of AFAs with class II alleles merits further investigation.	Control:112:controls;Case:52 Black South Africans with systemic sclerosis										
125429		allergies	IMMUNE	IMM	Hypersensitivity	6	6p21.3	HLA-DPB1	33151737	33162954		Sakaguchi, M.  et al. 2002	12144625				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2002 May;59(5):412-6	Analysis of HLA in children with gelatin allergy.		142858	17358	2	2002	We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.	Control:240 unrealted controls;Case:49 patients with gelatin allergy										
125430		lymphoma	CANCER	CAN		6	6p21.3	HLA-DPB1	33151737	33162954		Al-Hussein, K. A.  et al. 2002	12445309				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2002 Sep;60(3):259-61	HLA class II sequence-based typing in normal Saudi individuals.		142858	17365	2	2002	This study represents the first molecular report on the HLA class II allele frequency in the population of Saudi Arabia.	Cohort individuals in the Saudi population Saudi Arabia 										
125431		endometriosis	REPRODUCTION	REP	Endometriosis	6	6p21.3	HLA-DPB1	33151737	33162954		Ishii, K.  et al. 2003	12721173				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Human reproduction (Oxford, England). 2003 May;18(5):985-9	Associations between patients with endometriosis and HLA class II; the analysis of HLA-DQB1 and HLA-DPB1 genotypes		142858	17374	2	2003	 The HLA systems may be involved in the aetiology of endometriosis, although further study is needed.	Control:222:controls;Case:83 patients diagnosed with endometriosis										
125427	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DPB1	33151737	33162954		Zhang, S.  et al. 2001	11592043				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):362-5	[Sequencing-based typing of HLA-DPB1 and DQB1 exon 2 in patients with type 1 diabetes mellitus]		142858	17340	2	2001	 DPB1*2201, DQB1*0201, *0303 and *0604 may be susceptible alleles, and DPB1*0402 and DQB1*0301 may be protective alleles in patients with type 1 diabetes mellitus.	Control:38 normal controls;Case:52 type 1 diabetic patients										
125428		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Wassmuth, R.  et al. 2002	12144621				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Swedish	Sweden	CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2002 May;59(5):381-7	HLA class II markers and clinical heterogeneity in Swedish patients with primary biliary cirrhosis.		142858	17357	2	2002	Although a significant disease association was seen for HLA DRB1*08 and DQB1*0402, immunogenetic markers identified neither a particular subset of patients nor an association with the clinical course of the disease. HLA-DRB1*08 and DQB1*0402 provide the strongest immunogenetic influence in PBC. However, this association is not restricted to any particular, clinically defined subgroup of patients and it is not predictive for the course of the disease.	Control:158:controls;Case:99 Swedish primary biliary cirrhosis patients		HLA-DRB1	*08	HLA-DQB1	*0402			Y		primary biliary cirrhosis
125424	Y	endometriosis	REPRODUCTION	REP	Endometriosis	6	6p21.3	HLA-DPB1	33151737	33162954		He, Y. L.  et al. 2002	12390706				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese	China	CDC GDPinfo	3115	Hs.485130			Di yi jun yi da xue xue bao. 2002 May;22(5):432-3	Association of HLA-DPB1 gene with endometriosis in women of Guangdong Province in China		142858	17228	2	2002	 HLA-DPB1 allele may not be related to endometriosis.	Control:36 healthy women;Case:38 patients with endometriosis										
125425	Y	nephropathy in other diseases	RENAL	REN	Glomerulonephritis|Lupus Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Marchini, M.  et al. 2003	12651073				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Italian	Italy	CDC GDPinfo	3115	Hs.485130			Human immunology. 2003 Apr;64(4):462-8	HLA class II antigens associated with lupus nephritis in Italian SLE patients.		142858	17275	2	2003	In the Italian population HLA-DQA and HLA-DR alleles interact in conferring susceptibility to or protection against lupus nephritis, the diffuse proliferative glomerulonephritis (i.e., the most severe form of nephritis) is associated with the HLA-DR15 bearing haplotypes.	Cohort 244 patients fulfilling the American Rheumatism Association criteria for systemic lupus erythematosus (SLE) Italy 										
125422	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Rayner, M. L.  et al. 2002	11975985				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Human immunology. 2002 May;63(5):413-7	Analysis of the role of DPB1-encoded amino acids in the genetic predisposition to type I diabetes mellitus		142858	17226	2	2002	Eight DPbeta amino acid residues were significantly associated with type I diabetes independent of DR and DQ (DPbeta 9, 33, 35, 36, 55, 56, 57, and 69). None of these residues, however, correlated consistently with disease risk in all three racial groups. This contrasts with findings for the DRbeta, DQalpha and DQbeta peptide chains, where the identity of the amino acid at particular sites has been found to correlate with predisposition to type I diabetes.	Case diabetic subjects of white Caucasian, North Indian Asian, and Jamaican populations;Control control subjects of white Caucasian, North Indian Asian, and Jamaican populations										
125423	Y	leukemia, acute lymphoblastic	CANCER	CAN	Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Malcolm Taylor, G.  et al. 2002	12075003				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Human molecular genetics. 2002 Jul;11(14):1585-97	Genetic susceptibility to childhood common acute lymphoblastic leukaemia is associated with polymorphic peptide-binding pocket profiles in HLA-DPB1*0201.		142858	17227	2	2002	These results point to a mechanism of c-ALL susceptibility that involves the presentation of specific antigenic peptides, possibly derived from infectious agents, by DPbeta1*0201-related allotypic proteins, leading to the activation of helper T cells mediating proliferative stress on preleukaemic cells.	Control:409/864 children with solid tumours, excluding lymphomas (n=409), the other consisting of normal infants:(n=864).;Case:982 children with leukaemia										
125419		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Ovsyannikova, I. G.  et al. 2005	15712014				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine.		142858	11238	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vaccine 										
125420		graft acceptance, liver	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Zhou, L.  et al. 2005	15982255				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2005 Jul;66(1):37-43	Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of Shandong Han population in China.		142858	11242	2	2005												
125416		immunology study	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Ovsyannikova, I. G.  et al. 2005	15655774				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			The Journal of infectious diseases. 2005 Feb;191(4):515-9	Human Leukocyte Antigen Class II Alleles and Rubella-Specific Humoral and Cell-Mediated Immunity Following Measles-Mumps-Rubella-II Vaccination		142858	11235	2	2005	This study of HLA class II-restricted humoral and cellular immune responses to rubella provides significant insight into mechanisms of vaccine response and new vaccine development.	Cohort 346 schoolchildren 										
125417		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Ovsyannikova, I. G.  et al. 2005	15712014				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine		142858	11236	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vacine 										
125413		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DPB1	33151737	33162954		Ramal, L. M.  et al. 2001	11260508				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Gypsy, Roma		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2001 Feb;57(2):138-43	HLA class II allele distribution in the Gypsy community of Andalusia, southern Spain		142858	11175	2	2001	In summary our data support the hypothesis of a common anthropological origin of all three European Gypsy groups, which probably split up after their arrival in Europe.	Cohort 80 unrelated Gypsies living in different eastern areas of the Andalusian province Granada, Southern Spain 										
125414		cirrhosis, primary biliary	UNKNOWN	UNK		6	6p21.3	HLA-DPB1	33151737	33162954		Renquin, J.  et al. 2001	11782272				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	African		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2001 Oct;58(4):211-22	HLA class II polymorphism in Aka Pygmies and Bantu Congolese and a reassessment of HLA-DRB1 African diversity.		142858	11184	2	2001	Overall, this study shows that natural selection must be taken into account when interpreting the patterns of HLA diversity, but that this effect is probably minor in relation to the stochastic events of human population differentiations.	Cohort two African populations, the Basse Lobaye Aka Pygmies of the Central African Republic, and a Bantu-speaking group from the Democratic Republic of Congo Kinshasa 										
125411		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Uveitis, Anterior	6	6p21.3	HLA-DPB1	33151737	33162954		Alsaeid, K.  et al. 2005	15703957				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Rheumatology international. 2006 Jan;26(3):224-8	The prevalence of human leukocyte antigen (HLA) DR/DQ/DP alleles in Kuwaiti children with oligoarticular juvenile idiopathic arthritis.		142858	11155	2	2005	Most Kuwaiti Arab patients with OA-JIA who carried a DQ or DP susceptibility allele also had an accompanying DRB1*03 or *8 allele.	Control healthy controls;Case Kuwaiti children with oligoarticular juvenile idiopathic arthritis										
125412		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Gaede, K. I.  et al. 2005	15750822				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		United States|Israel|Germany	CDC GDPinfo	3115	Hs.485130			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		142858	11159	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
125409		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DPB1	33151737	33162954		Donaldson, P. T.  et al. 2001	11318984				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese	China|Hong Kong	CDC GDPinfo	3115	Hs.485130			Liver. 2001 Apr;21(2):143-8	HLA class II alleles in Chinese patients with hepatocellular carcinoma		142858	11091	2	2001	 Although none of these associations was significant after correction for multiple testing, this report suggests that further investigations are warranted.	Case:123 hepatitis B surface antigen positive patients (84 with hepatocellular carcinoma and 39 without);Control:124 matched controls										
125410	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Mbanya, J. C.  et al. 2001	11532022				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Cameroon	CDC GDPinfo	3115	Hs.485130			European journal of immunogenetics. 2001 Aug;28(4):459-62	HLA-DRB1, -DQA1, -DQB1 and DPB1 susceptibility alleles in Cameroonian type 1 diabetes patients and controls.		142858	11095	2	2001	the data in Cameroonian diabetes patients suggest the existence of HLA class II predisposing and specific protective markers, but do not support previous reports of a primary association between HLA-DP polymorphism and development of type I diabetes.	Case:10 unrelated C-peptide negative patients with type 1:diabetes:Cameroon;Control:90 controls from a homogeneous population of rural:Cameroon										
125406	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	6p21.3	HLA-DPB1	33151737	33162954		Tian, H.  et al. 2003	12844410				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese	China	CDC GDPinfo	3115	Hs.485130			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2003 Jun;11(3):266-8	[Association of HLA-DPB1 alleles with chronic myelogenous leukemia in southern Chinese Hans]		142858	11082	2	2003	It is concluded that positive association may exist between certain HLA-DPB1 alleles and CML.	Control:82 healthy individuals;Case:86 patients with chronic myelogenous leukemia southern China										
125407		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Zino, E.  et al. 2004	14576061				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Blood. 2004 Feb;103(4):1417-24	A T-cell epitope encoded by a subset of HLA-DPB1 alleles determines nonpermissive mismatches for hematologic stem cell transplantation.		142858	11083	2	2004	These data suggest that biologic characterization of in vivo alloreactivity can be a tool for definition of clinically relevant nonpermissive HLA mismatches for unrelated HSC transplantation.	Cohort 118 stem cell transplant patients 										
125403		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DPB1	33151737	33162954		Caraballo 1991	1774196	DPB1*04			Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Africa|Europe	KCB	3115	Hs.485130			Human immunology. 1991 Nov;32(3):157-61			142858	3137	1	1991												
125405		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DPB1	33151737	33162954		Dekker 1997	9179433	DPB1*03			Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KCB	3115	Hs.485130			Clinical and experimental allergy. 1997 May;27(5):574-7			142858	3139	1	1997	 The presence of an HLA association suggests that immune recognition of an unknown antigen may be part of the aetiology of AIA.											
125400		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2		Philippines	CDC GDPinfo	3113	Hs.347270			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142880	26116	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
125401		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Flomenberg, N.  et al. 2004	15191952				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		142880	26117	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
125402		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DPB1	33151737	33162954		Dekker 1997	9179433	DPB1*04			Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KCB	3115	Hs.485130			Clinical and experimental allergy. 1997 May;27(5):574-7			142858	3136	1	1997	 The presence of an HLA association suggests that immune recognition of an unknown antigen may be part of the aetiology of AIA.											
125397		berylliosis	OTHER	OTH	Alveolitis, Extrinsic Allergic|Berylliosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Amicosante, M.  et al. 2005	16098233				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Respiratory research. 2005 Aug;6:94	Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.		142880	17224	2	2005	 We conclude that HLA-DPGlu69 is the primary marker of Be-hypersensitivity and HLA-DRPhe47 is associated with BH in Glu69-negative subjects, likely playing a role in Be-presentation and sensitization.											
125398		measles	INFECTION	INF		6	6p21.3	HLA-DPA1	33140771	33156522		Ovsyannikova, I. G.  et al. 2004	15121303				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Vaccine. 2004 May;22(15-16):1914-20	Associations between human leukocyte antigen (HLA) alleles and very high levels of measles antibody following vaccination.		142880	21808	2	2004	These data increase our understanding of measles vaccine-induced immune response and will be useful for future mechanistic work on measles virus antigen processing and presentation in seronegative and hyperseropositive individuals.	Cohort 170 US schoolchildren who received one dose of measles-mumps-rubella II vaccine US 										
125399		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		142880	24635	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
125394		hepatosplenic schistosomiasis japonica	INFECTION	INF	Schistosomiasis japonica|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Zhang, J. H.  et al. 2005	16042197				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Zhongguo ji sheng chong xue yu ji sheng chong bing za zhi. 2005 Feb;23(1):9-Jun	[Studies on the association of human leukocyte antigen class II alleles with advanced hepatosplenic schistosomiasis japonica]		142880	11161	2	2005	 The study indicated that HLA-DRB1 x 04, DPA1 x 0103. DQA1 x 0601 and DQB1 x 0201 showing a positive, statistically significant (P<0.05) association with advanced hepatosplenic schistosomiasis japonica may be the susceptible genes, whereas HLA-DQA1 x 0501 and DQBH1 x 0601 may be more relevant to a resistance to the disease.											
125395	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Lantermann, A.  et al. 2002	12073072				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	German	South Africa|Korea|Germany	CDC GDPinfo	3113	Hs.347270			International journal of colorectal disease. 2002 Jul;17(4):238-44	Investigation of HLA-DPA1 genotypes as predictors of inflammatory bowel disease in the German, South African, and South Korean populations.		142880	17222	2	2002	 HLA-DPA1 is not a major determinant of IBD risk in any of the three populations. The transmission distortion observed in the German cohort may indicate an extended haplotype, suggesting another disease relevant gene in the vicinity of HLA-DPA.	Cohort 249 German multiplex IBD families (n=249) and monoplex families from a mixed South African population (n=48) ;Control:71 controls from a South Korean sample;Case:87 IBD patients										
125396		measles	INFECTION	INF		6	6p21.3	HLA-DPA1	33140771	33156522		Liu, X.  et al. 2005	15713216			promoter	Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	Chinese		CDC GDPinfo	3113	Hs.347270			Tissue antigens. 2005 Feb;65(2):172-7	HLA-DPA1 promoter haplotypes are differently distributed in southern Chinese ethnic groups.		142880	17223	2	2005	Our study may help distinguishing each of these populations by sequence variations of HLA-DPA1 promoter, which may be served as functional molecular markers for clinical and immunological studies involving the DPA1 locus.	Cohort individuals from southern Chinese ethnic groups southern China 										
125391		measles	INFECTION	INF		6	6p21.3	HLA-DPA1	33140771	33156522		Gendzekhadze, K.  et al. 2004	15603877				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	Venezuelan Amerindian		CDC GDPinfo	3113	Hs.347270			Human immunology. 2004 Dec;65(12):1483-8	HLA-DP polymorphism in Venezuelan Amerindians.		142880	11086	2	2004	Some HLA-DPB1 (*0402 and *1401) alleles characteristic for all Amerindian tribes are present also in these populations. Despite general similarities, each tribe and, in some cases, some subtribes show their own pattern of allele and haplotype distribution apparently more as a result of linguistic than to geographic variation.	Cohort individuals from 3 different Venezuelan Amerindian tribes 										
125392	N	nasopharyngeal cancer	CANCER	CAN		6	6p21.3	HLA-DPA1	33140771	33156522		Zhou, J.  et al. 2003	12778461				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):262-4	[Association study on HLA-DP and -DQ allelic polymorphisms and nasopharyngeal carcinoma in the Han nationality in Hunan province]		142880	11130	2	2003	 No significant association between the HLA-DP and HLA-DQ loci and NPC in Han nationality in Hunan province was confirmed.	Case:87 Chinese Han nasopharyngeal cancer patients Hunan province, China;Control:91 normal controls		HLA-DP		HLA-DQ				N		nasopharyngeal cancer
125393		leishmaniasis	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Olivo-Diaz, A.  et al. 2004	15041165				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDPinfo	3113	Hs.347270			Human immunology. 2004 Mar;65(3):255-61	Role of HLA class II alleles in susceptibility to and protection from localized cutaneous leishmaniasis		142880	11141	2	2004	Resistance was found associated to DPB1*0401, thus *0401 "motif" could be an ideal candidate for the development of a vaccine. DR2 (DRB1*1500+DRB1*1600) has also a significant p for protection, suggesting that the sequence common to this group of antigens may anchor parasite peptides which trigger a protective response.	Control:100 healthy controls;Case:65 patients with localized cutaneous leishmaniasis										
125388	Y	cholestasis	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications	6	6p21.3	HLA-DPA1	33140771	33156522		Zhang, L.  et al. 2003	12910711				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	Chinese		CDC GDPinfo	3113	Hs.347270			Sichuan da xue xue bao Yi xue ban. 2003 Jul;34(3):530-2	[Human leucocyte antigen-DPA1 polymorphism distribution in Chengdu Chinese families with intrahepatic cholestasis of pregnancy]		142880	11080	2	2003	 It is unlikely that an HLA-DPA1 allele is primarily associated with susceptibility or resistance to ICP.	Case:25 intrahepatic cholestatis of pregnancy families;Control:25 normal control group families										
125389		measles	INFECTION	INF		6	6p21.3	HLA-DPA1	33140771	33156522		Velickovic, Z. M.  et al. 2001	11556979				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	Australian		CDC GDPinfo	3113	Hs.347270			Tissue antigens. 2001 Jun;57(6):493-501	HLA-DPA1 and DPB1 polymorphism in four Pacific Islands populations determined by sequencing based typing.		142880	11081	2	2001	Significant differences in DPA1 and DPB1 allele and haplotype frequencies were observed between Tokelauan and other three populations. Phylogenetic analysis of genetic distances between the four Pacific Island populations and other Asian Oceanian populations have shown that Cook Islanders, Samoans and Tongans are more closely related to Asian populations whereas Tokelauans cluster towards non-Austronesian populations of Papua New Guinea Highlanders and Australian Aborigines.	Cohort four Pacific Island populations of Cook Islands, Samoa, Tokelau and Tonga New Zealand 										
125390		juvenile arthritis; measles	IMMUNE	IMM		6	6p21.3	HLA-DPA1	33140771	33156522		Perez-Miranda, A. M.  et al. 2004	15304007				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	Spanish		CDC GDPinfo	3113	Hs.347270			Tissue antigens. 2004 Sep;64(3):264-75	Genetic polymorphism and linkage disequilibrium of the HLA-DP region in Basques from Navarre (Spain).		142880	11085	2	2004	Various evolutionary forces were considered in discussing the origin of the spatial structuring of	Cohort Basques from Navarre Navarre, Spain 										
125385		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795		Pyo, C. W.  et al. 2003	12648225				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Korean	Korea	CDC GDPinfo	3109	Hs.351279			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		142856	21805	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
125386		multiple sclerosis; IgA nephropathy	IMMUNE	IMM		6	6p21.3	HLA-DMB	33010387	33016795		Zhu, X.  et al. 2000	11775239				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Chinese		CDC GDPinfo	3109	Hs.351279			Chinese medical journal. 2000 Apr;113(4):372-5	Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese.		142856	21806	2	2000	 The polymorphisms of antigen-processing genes in this Shanghai population are similar to those observed in the other ethnic populations. No association was found between IgAN or MS and any antigen-processing genes tested in Shanghai population.	Case:21 patients with multiple sclerosis:China;Case:60 patients with IgA nephropathy:China;Control:80 normal Shanghai Chinese										
125387	N	measles	INFECTION	INF	Measles	6	6p21.3	HLA-DMB	33010387	33016795		Dhiman, N.  et al. 2003	12786997				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3		Minnesota	CDC GDPinfo	3109	Hs.351279			European journal of immunogenetics. 2003 Jun;30(3):195-200	Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination.		142856	21807	2	2003	Our study suggests that TAP and DM gene polymorphisms do not influence antibody levels post measles vaccination.	Cohort 242 Olmsted County, Minnesota, USA who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
125382		antiphospholipid syndrome	IMMUNE	IMM	Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795		Sanchez, M. L.  et al. 2004	15547089				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3			CDC GDPinfo	3109	Hs.351279			Annals of the rheumatic diseases. 2004 Dec;63(12):1645-8	Association of HLA-DM polymorphism with the production of antiphospholipid antibodies.		142856	21802	2	2004	 The results suggest that HLA-DMA*0102 or its linked gene(s) form one of the genetic risks for the production of aPL.	Control:109 healthy white controls;Case:51/82 white patients with primary antiphospholipid syndrome (n=51) and patients with systemic lupus erythematosus (n=82, 42 with APS and 40 without:APS)										
125383	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DMB	33010387	33016795		Moxley, G.  et al. 2001	11881821				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Caucasian	United States	CDC GDPinfo	3109	Hs.351279			European journal of immunogenetics. 2001 Oct;28(5):539-43	HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians.		142856	21803	2	2001	Thus, neither HLA DMA nor DMB was associated with RA in this population, and not all shared-epitope-bearing haplotypes had the same DMB allele distribution.	Control:263 Caucasian control subjects;Case:288 Caucasian subjects with rheumatoid arthritis:USA										
125384		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795		Morel, J.  et al. 2003	12858445				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Caucasian		CDC GDPinfo	3109	Hs.351279			The Journal of rheumatology. 2003 Jul;30(7):1485-90	Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus.		142856	21804	2	2003	 This is the first study evaluating the influence of HLA-DM in a Caucasian SLE population. Our results suggest that HLA-DMA*0104 may represent a novel allele of susceptibility to SLE.	Control:147/86 randomly selected controls (n=147) and HLA-DRB1 genotyped matched controls;Case:73 patients with systemic lupus erythematosus										
125379	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795	<0.0003	Pyo CW 2003	12648225				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Korean	Korea	KEW	3109	Hs.351279			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		142856	3134	1	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
125380		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DMB	33010387	33016795		Takeuchi F 1998	9487257				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3	Japanese	Japan	Y Wang	3109	Hs.351279			British journal of rheumatology. 1998 Jan;37(1):95-7	Polymorphisms of DMA and DMB genes in Japanese systemic lupus erythematosus.		142856	3135	1	1998												
125381		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795		Morel, J.  et al. 2004	15547082				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3			CDC GDPinfo	3109	Hs.351279			Annals of the rheumatic diseases. 2004 Dec;63(12):1581-6	HLA-DMA*0103 and HLA-DMB*0104 alleles as novel prognostic factors in rheumatoid arthritis.		142856	21801	2	2004	 This is the first study evaluating the role of HLA-DM genes in the severity of RA. Our results suggest that HLA-DMA*0103 and HLA-DMB*0104 alleles may represent new genetic markers of RA severity. The HLA-DMA*0103 allele tends to be associated with patients with RA negative for DRB1*04 and could predict a more severe form of disease especially in HLA-DRB1*01 positive patients. The HLA-DMB*0104 allele could have an additive effect in HLA-DRB1*04 patients. Combined determination of HLA-DM and HLA-DRB1 alleles could facilitate identification of patients likely to have a poor disease course.	Cohort 199 unselected patients with RA (mean (SD) age 45.5 (13.5) years; disease duration 11.9(8.8) years) Cohort 95/70 patients with severe RA (n=95) and patients with benign RA (n=70) 										
125376		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Pyo, C. W.  et al. 2003	12648225				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Korean	Korea	CDC GDPinfo	3108	Hs.351279			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		142855	19752	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
125377		multiple sclerosis	IMMUNE	IMM	Malaria|Multiple Sclerosis	6	6p21.3	HLA-DMA	33024372	33028831		Bitti, P. P.  et al. 2001	11180452				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186		Italy	CDC GDPinfo	3108	Hs.351279			Genetic epidemiology. 2001 Feb;20(2):271-83	Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.		142855	24634	2	2001		Case not defined in abstract central Sardinia;Control not defined in abstract										
125378	N	Insulin Dependent Diabetes	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DMB	33010387	33016795	n	Esposito L 1997	9237803	?			Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3			KGB	3109	Hs.351279			Journal of autoimmunity. 1997 Aug;10(4):395-400			142856	3133	1	1997	We conclude that  the described DMB polymorphisms are not associated with IDDM susceptibility and DMB genotyping is unlikely to improve the assessment of genetic risk for IDDM.	Case:52; Control:65										
125373	N	measles	INFECTION	INF	Measles	6	6p21.3	HLA-DMA	33024372	33028831		Dhiman, N.  et al. 2003	12786997				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186		Minnesota	CDC GDPinfo	3108	Hs.351279			European journal of immunogenetics. 2003 Jun;30(3):195-200	Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination.		142855	14152	2	2003	Our study suggests that TAP and DM gene polymorphisms do not influence antibody levels post measles vaccination.	Cohort 242 Olmsted County, Minnesota, USA who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
125374	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DMA	33024372	33028831		Moxley, G.  et al. 2001	11881821				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Caucasian	United States	CDC GDPinfo	3108	Hs.351279			European journal of immunogenetics. 2001 Oct;28(5):539-43	HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians.		142855	17348	2	2001	Thus, neither HLA DMA nor DMB was associated with RA in this population, and not all shared-epitope-bearing haplotypes had the same DMB allele distribution.	Control:263 Caucasian control subjects;Case:288 Caucasian subjects with rheumatoid arthritis:USA		HLA-DMA		HLA-DMB				N		rheumatoid arthritis
125375		HIV	INFECTION	INF	Mycobacterium avium-intracellulare Infection|AIDS-Related Opportunistic Infections|HIV Seropositivity	6	6p21.3	HLA-DMA	33024372	33028831		Naik, E.  et al. 2003	12794545				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186		United States	CDC GDPinfo	3108	Hs.351279			Journal of acquired immune deficiency syndromes (1999). 2003 Jun;33(2):140-5	The complexity of HLA class II (DRB1, DQB1, DM) associations with disseminated Mycobacterium avium complex infection among HIV-1-seropositive whites.		142855	17377	2	2003	Apparent joint effects of DRB1 and DM allelic combinations on occurrence and timing of DMAC suggest that class II disease relationships may be better predicted by biologically plausible interactive combinations than by polymorphisms in individual genes.	Case:176 disseminated Mycobacterium avium complex, HIV-1 seropositive whites from the Multicenter AIDS Cohort study;Control:176:controls										
125371	Y	antiphospholipid syndrome	IMMUNE	IMM	Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Sanchez, M. L.  et al. 2004	15547089				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186			CDC GDPinfo	3108	Hs.351279			Annals of the rheumatic diseases. 2004 Dec;63(12):1645-8	Association of HLA-DM polymorphism with the production of antiphospholipid antibodies.		142855	11079	2	2004	 The results suggest that HLA-DMA*0102 or its linked gene(s) form one of the genetic risks for the production of aPL.	Control:109 healthy white controls;Case:51/82 white patients with primary antiphospholipid syndrome (n=51) and patients with systemic lupus erythematosus (n=82, 42 with APS and 40 without:APS)										
125372		multiple sclerosis; IgA nephropathy	IMMUNE	IMM		6	6p21.3	HLA-DMA	33024372	33028831		Zhu, X.  et al. 2000	11775239				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Chinese		CDC GDPinfo	3108	Hs.351279			Chinese medical journal. 2000 Apr;113(4):372-5	Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese.		142855	14140	2	2000	 The polymorphisms of antigen-processing genes in this Shanghai population are similar to those observed in the other ethnic populations. No association was found between IgAN or MS and any antigen-processing genes tested in Shanghai population.	Case:21 patients with multiple sclerosis:China;Case:60 patients with IgA nephropathy:China;Control:80 normal Shanghai Chinese										
125367	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Morel J 2003	12858445				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Caucasian		Y Wang	3108	Hs.351279			The Journal of rheumatology. 2003 Jul;30(7):1485-90	Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus.		142855	3131	1	2003	 This is the first study evaluating the influence of HLA-DM in a Caucasian SLE population. Our results suggest that HLA-DMA*0104 may represent a novel allele of susceptibility to SLE.	Control:147/86 randomly selected controls (n=147) and HLA-DRB1 genotyped matched controls;Case:73 patients with systemic lupus erythematosus		HLA-DR		HLA-DMA	*0104			Y		systemic lupus erythematosus
125368		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DMA	33024372	33028831		Takeuchi F 1998	9487257				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Japanese	Japan	Y Wang	3108	Hs.351279			British journal of rheumatology. 1998 Jan;37(1):95-7	Polymorphisms of DMA and DMB genes in Japanese systemic lupus erythematosus.		142855	3132	1	1998												
125369	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Morel, J.  et al. 2003	12858445				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186	Caucasian		CDC GDPinfo	3108	Hs.351279			The Journal of rheumatology. 2003 Jul;30(7):1485-90	Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus.		142855	11077	2	2003	 This is the first study evaluating the influence of HLA-DM in a Caucasian SLE population. Our results suggest that HLA-DMA*0104 may represent a novel allele of susceptibility to SLE.	Control:147/86 randomly selected controls (n=147) and HLA-DRB1 genotyped matched controls;Case:73 patients with systemic lupus erythematosus		HLA-DR		HLA-DMA	*0104			Y		systemic lupus erythematosus
125364		dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	HLA-B	31344507	31432914		Lee, H. J.  et al. 2001	11737038				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Korean	Korea	CDC GDPinfo	3106	Hs.77961			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		142830	21793	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
125365		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-B	31344507	31432914		Shao, W.  et al. 2004	15304010				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		142830	24585	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
125366		maternal microchimerism	OTHER	OTH		6	6p21.3	HLA-B	31344507	31432914		Berry, S. M.  et al. 2004	15128924				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		142830	26113	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
125361	Y	leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Gao, S. Q.  et al. 2005	15854278				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Apr;13(2):210-4	[Study on the correlation between acute lymphoblastic leukemia and HLA genes in southern China Han population.]		142830	21790	2	2005	It is concluded that HLA-A26, B56 and DR9 gene have a high correlation with ALL and seem to contribute the genetic susceptibility to ALL in southen Chinese Han populations. However, HLA-A30, A33 and B58 gene seem to have protective role for southern Han individuals suffered from ALL.	Case:201 acute lymphoblastic leukemia patients diagnosed as patient group from southern Han individuals;Control:4,707 healthy volunteer bone morrow donors from southern Chinese Han population										
125362		cirrhosis, biliary primary; diabetes, gestational	UNKNOWN	UNK		6	6p21.3	HLA-B	31344507	31432914		Zhen, Z. J.  et al. 2004	15631661				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Dec;12(6):783-7	[Analysis on HLA-E polymorphism in Guangdong Han population]		142830	21791	2	2004	In conclusion, the high conservative polymorphism of HLA-E suggests that it's biological characteristic is different from that of classical HLA class Ia molecules.	Cohort 150 unrelated healthy Chinese Han individuals Guangzhou , China 										
125363		hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	HLA-B	31344507	31432914		Bougacha-Elleuch, N.  et al. 2004	15236755				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Tunisian	Tunisia	CDC GDPinfo	3106	Hs.77961			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		142830	21792	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
125358		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Zhou, L. X.  et al. 2005	16143070				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Xi bao yu fen zi mian yi xue za zhi. 2005 Sep;21(5):619-21	[Correlation between the polymorphism of HLA-A, -B, and -DRB1 alleles and susceptibility to leukemia.]		142830	21787	2	2005	 HLA-A01, -B38 and -DR15 alleles in Han population, Gansu province seem to contribute to the genetic susceptibility, while HLA-A11 and -DR03 alleles to the genetic resistance, to leukemia.											
125359		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Lan, T.  et al. 2005	16215957				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):583-4	[Polymorphism of HLA-A,-B and DRB1 in Han population of Shanxi province]		142830	21788	2	2005	 The HLA-A,-B,-DRB1 distribution in Shanxi Han population shares some genetic characteristics with other Han populations in northern part of China, but it exhibits its own characteristics.											
125360		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-B	31344507	31432914		Xu, R.  et al. 2004	15228651				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Jun;12(3):282-6	[Prediction of acute GVHD after umbilical cord blood transplantation by HLA three-dimensional structure matching]		142830	21789	2	2004	In conclusion, utilization of modeling HLA molecular three-dimension can predict the severe aGVHD after UCBT quickly, simply and accurately. It provides scientific basis in choosing a optimal cord blood donor to avoid severe aGVHD for physicians and the cord blood banks. And it is instructive too to direct the application of immunosuppressive agents after transplantation in clinic.	Cohort 25 patients with blood disorder who underwent UCBT and their donors 										
125355		hepatitis, fulminant non-A, nonB	INFECTION	INF	Hepatitis C	6	6p21.3	HLA-B	31344507	31432914		Gow, P.  et al. 2005	15836703				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of gastroenterology and hepatology. 2005 Apr;20(4):555-61	Association of fulminant non-A non-B hepatitis with homozygosity for HLA A1-B8-DR3.		142830	21784	2	2005	 Homozygosity for the HLA haplotype A1-B8-DR3 confers susceptibility to the development of fulminant NANB hepatitis. This observation may imply a role for the immune response genes (which are flanked by HLA B and DR) in the pathogenesis of this syndrome.	Control:1,449 local Caucasian controls;Case:55 adult Caucasian fulminant NANB patients										
125356		H. pylori infection	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Wu, G. G.  et al. 2004	15555263				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhonghua xue ye xue za zhi. 2004 Aug;25(8):473-7	[Study of HLA polymorphism in the 6965 Han bone marrow registry donors]		142830	21785	2	2004	 Large-scale DNA-based HLA genotyping used in bone marrow registry donors is highly accurate and reliable for estimating gene frequency and searching for new alleles. The discrepancy of HLA gene distribution between South and North China Han population showed the necessity of setting the more regions in South and North China to screen the bone marrow registry donors for bone marrow transplant.	Cohort 6,965 unrelated Han bone marrow donors, 4707 from South China origin and 2258 from north China 										
125357		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	6	6p21.3	HLA-B	31344507	31432914		Liu, H. Y.  et al. 2005	15975271				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhonghua gan zang bing za zhi. 2005 Jun;13(6):410-3	[Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis]		142830	21786	2	2005	 Susceptibility to primary biliary cirrhosis in Chinese is associated with DRB1*0701 allele and differs from people in North America, South America, North Europe and even in Japan, but the association is not restricted to any particular subgroup of patients. Valine at position 78 of HLA DRbeta1 may play an important role in the pathogenesis of primary biliary cirrhosis.											
125352		HIV infection	INFECTION	INF	HIV Infections|Disease Progression|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Lockett, S. F.  et al. 2001	11464148				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of acquired immune deficiency syndromes (1999). 2001 Jul;27(3):277-80	Mismatched Human Leukocyte Antigen Alleles Protect Against Heterosexual HIV Transmission		142830	21781	2	2001	Analysis of the frequencies of specific alleles at the A, B, and DR loci revealed a significantly higher frequency of HLA DR5 among exposed uninfected individuals, relative to population controls.	Cohort 80 individuals at risk for heterosexual HIV infection 										
125353		myasthenia gravis	IMMUNE	IMM	Multiple Sclerosis|Myasthenia Gravis	6	6p21.3	HLA-B	31344507	31432914		Donmez, B.  et al. 2004	15301866				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish	Turkey	CDC GDPinfo	3106	Hs.77961			Human immunology. 2004 Jul;65(7):752-7	HLA genotypes in Turkish patients with myasthenia gravis: comparison with multiple sclerosis patientson the basis of clinical subtypes and demographic features.		142830	21782	2	2004	This is the first study to examine the relationship between HLA haplotypes and MG in the Turkish population and to compare MG with another autoimmune disease, MS, on the basis of the HLA haplotypes. Further investigations with a larger population are required to explain this finding.	Control:122/188 clinically definite multiple sclerosis patients (n=122) and healthy subjects (n=188);Case:66 Turkish patients with myasthenia gravis										
125350		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Windsor, L.  et al. 2005	15858601				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Genes and immunity. 2005 Jun;6(4):298-304	Does a central MHC gene in linkage disequilibrium with HLA-DRB1*0401 affect susceptibility to type 1 diabetes?		142830	21779	2	2005	Here, alleles characteristic of the 62.1AH (C4B3, IKBL+446(*)T and HLA-A2,B15) were screened in donors preselected for HLA-DRB1(*)0401. C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II. However, increases in carriage of IKBL+446(*)T and HLA-A2,B15 were marginal, as too few control subjects were available with the diabetogenic alleles. However, with these tools, selection of HLA-DRB1(*)0401, DQB1(*)0302 donors who are positive and negative for C4B3 will allow bidirectional mapping of diabetes genes in the central MHC.	Cohort individuals from a largely Caucasian cohort from Western Australia 										
125351		neuropathy, small fiber	NEUROLOGICAL	NEUR	Autonomic Nervous System Diseases|Sarcoidosis|Disease Progression	6	6p21.3	HLA-B	31344507	31432914		Voorter, C. E.  et al. 2005	16053028				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Jun;22(2):129-32	Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.		142830	21780	2	2005	 This association might be correlated with a severe course of the disease.											
125347		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-B	31344507	31432914		Zivadinov, M. D. = PhD R et al. 2003	14504973				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of neurology. 2003 Sep;250(9):1099-106	HLA genotypes and disease severity assessed by magnetic resonance imaging findings in patients with multiple sclerosis.		142830	21776	2	2003	The study findings suggest that some HLA alleles may predict the destructive pathological processes visible on MRI. Since the size of the sample studied is relatively small, further studies are needed to draw any firm conclusion about genotype/phenotype correlation in patients with MS.	Case:100 patients with multiple sclerosis;Control:122 age, sex-, ethnic- and residence-matched controls										
125348		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	6	6p21.3	HLA-B	31344507	31432914		Shankarkumar, U.  et al. 2002	14686115				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian	India	CDC GDPinfo	3106	Hs.77961			Indian journal of malariology. 2002 Sep-Dec;39(4-Mar):76-82	HLA associations in P. falciparum malaria patients from Mumbai, western India		142830	21777	2	2002	These observations revealed the importance of ethnic background, which has to be taken into consideration while developing an ideal malaria vaccine. Further, when compared to HLA associations of other world populations the present study indicates the relative importance of different HLA alleles that may vary in different populations.	Control:101 normal sex, age, and ethnically matched controls;Case:171 severe P. falciparum malaria patients										
125343		myositis, sporadic inclusion-body	OTHER	OTH	Myositis, Inclusion Body	6	6p21.3	HLA-B	31344507	31432914		Lampe, J. B.  et al. 2003	14648147				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of neurology. 2003 Nov;250(11):1313-7	Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.		142830	21772	2	2003	After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal	Control German controls;Case:47 patients suffering from sporadic inclusion body:myositis										
125344	N	nut allergy	IMMUNE	IMM	Nut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Hand, S.  et al. 2004	15144462				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Clinical and experimental allergy. 2004 May;34(5):720-4	Human leucocyte antigen polymorphisms in nut-allergic patients in South Wales.		142830	21773	2	2004	 At HLA '2-digit resolution' and with undifferentiated patients with nut allergy, there are no major disturbances in the frequency of HLA-A, B, DRB1 or DQB1 types. However, the difference in frequency of HLA-DRB1(*)11 between the nut allergy patients and the atopic controls merits further investigation as this may represent an important phenotypic relationship.	Control:82/1798 atopic non-nut-allergic subjects (n=82) and random blood donors (n=1,798);Case:84 patients presenting at the allergy clinic with symptoms of nut allergy										
125345		diabetes, type 2; alveolitis, extrinsic allergic	METABOLIC	MET		6	6p21.3	HLA-B	31344507	31432914		Monte, S. J.  et al. 2004	15666025				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian		CDC GDPinfo	3106	Hs.77961			Rev Assoc Med Bras. 2004 Oct-Dec;50(4):422-6	[HLA polymorphism in a racially admixed sample of the population of Teresina, Piau????]		142830	21774	2	2004	 The genetic composition of Teresina's racially admixed is predominantly bi-hybrid of genes originated from Blacks and Caucasians with little contribution from Amerindian genes.	Cohort 97 unrelated healthy racially admixed people of Teresina Teresina, Piaui 										
125340	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-B	31344507	31432914		Parapanissiou, E.  et al. 2005	15853903				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Greek	Greece	CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2005 May;65(5):481-4	HLA antigens in Greek children with allergic bronchial asthma.		142830	21769	2	2005	The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children.	Control:125 healthy, unrelated Greek children without medical history of atopy;Case:60 Greek children with allergic bronchial asthma due to mite sensitivity:Greece										
125341		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-B	31344507	31432914		Nejentsev, S.  et al. 2000	11118029				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		142830	21770	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
125342		HIV; cytomegalovirus retinitis	INFECTION	INF	Cytomegalovirus Retinitis|Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		De Lourdes Veronese Rodrigues, M.  et al. 2003	14510801				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Brazil	CDC GDPinfo	3106	Hs.77961			Acta ophthalmologica Scandinavica. 2003 Oct;81(5):514-6	Frequency of HLA class 1 and 2 alleles in Brazilian patients with AIDS and cytomegalovirus retinitis.		142830	21771	2	2003	 There was no association between HLA molecules/alleles and CMV-R in Brazilian patients with AIDS. However, the results support the role of the HLA system in the susceptibility to developing AIDS.	Case Brazilian patients with AIDS and cytomegalovirus:retinitis;Control:controls										
125337		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914			16343061				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Korean		CDC GDPinfo	3106	Hs.77961			Liver international. 2005 Dec;25(6):1122-7	Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population		142830	21766	2	2005	 These results suggest that particular HLA alleles may have an influence on chronic HCV infection as a host genetic factor in the Korean population.											
125338		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Kheradvar, A.  et al. 2004	15471368				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Iran	CDC GDPinfo	3106	Hs.77961			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):526-31	Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-yearfollow-up study.		142830	21767	2	2004	 The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.	Cohort 55 patients with a potential diagnosis of acute optic neuritis (20 were confirmed for the diagnosis of multiple sclerosis) Iran 										
125339		multiple sclerosis; optic neuritis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis	6	6p21.3	HLA-B	31344507	31432914		Amirzargar, A. A.  et al. 2005	15613143				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			European journal of neurology. 2005 Jan;12(1):25-30	Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-upstudy		142830	21768	2	2005	In conclusion existence of common genetic basis for early manifestations of MS could be suggested.	Control:controls;Case:56 Iranian optic neuritis and multiple sclerosis patients (46 females and 10 males)										
125334		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Sanchez-Velasco, P.  et al. 2003	12753657				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Spanish		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2003 May;61(5):384-92	HLA alleles in isolated populations from North Spain: origin of the Basques and the ancientIberians.		142830	21763	2	2003	These populations have been compared with neighbouring ones and other Mediterraneans by using neighbour-joining dendrograms and plane genetic distances.	Cohort three relatively isolated populations of northern Spain from Cantabria ( Pas Valleys inhabitants or Pasiegos and Cabuernigos) and from the Basque Country (Arratia Valley inhabitants) 										
125335		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases|Genetic Predisposition to Disease|Hyperplasia	6	6p21.3	HLA-B	31344507	31432914		Fernandez-Mestre, M. T.  et al. 2004	14700596				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Venezuela	CDC GDPinfo	3106	Hs.77961			Human immunology. 2004 Jan;65(1):54-9	HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis		142830	21764	2	2004	Thus, our results reflect the heterogeneity of our population and of the patients tested and suggest a limited influence of several HLA genes in this heterogenous disease or that these might be only markers of nearby non-HLA genes responsible for the susceptibility or resistance effect.	Case ethnically mixed Venezuelan patients with myasthenia gravis;Control:controls										
125336		melanoma	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Spinola, H.  et al. 2005	16101833				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2005 Sep;66(3):217-30	HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands.		142830	21765	2	2005												
125331	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Donaldson, P. T.  et al. 2002	12100571				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		142830	21760	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
125332		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Bera, O.  et al. 2001	11285127				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2001 Mar;57(3):200-7	HLA class I and class II allele and haplotype diversity in Martinicans.		142830	21761	2	2001	In the whole, using PCR-based genotyping methods for HLA class I and class II loci, this study allows a preliminary description of HLA allele distribution in this Caribbean island and gives new elements which may be helpful in the anthropologic field as well as in HLA and disease association studies.	Cohort 100 Martinicans (admixture between African and French Caucasians) Martinicans 										
125333	Y	pulmonary hypertension; thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Embolism|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Tanabe, N.  et al. 2005	15640334				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Japan	CDC GDPinfo	3106	Hs.77961			The European respiratory journal. 2005 Jan;25(1):131-8	Association of clinical features with HLA in chronic pulmonary thromboembolism		142830	21762	2	2005	These observations suggested that both the susceptibility and clinical characteristics of chronic thromboembolic pulmonary hypertension were controlled in part by the HLA-B and -DPB1 loci.	Control:678:conrols;Case:80 Japanese patients with chronic thromboembolic pulmonary hypertension										
125328		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-B	31344507	31432914		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		142830	21757	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
125329		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Migot-Nabias, F.  et al. 2001	11294566				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Gabon	CDC GDPinfo	3106	Hs.77961			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		142830	21758	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
125330		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-B	31344507	31432914		Hildesheim, A.  et al. 2002	12464650				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese	Taiwan	CDC GDPinfo	3106	Hs.77961			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		142830	21759	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
125325	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	HLA-B	31344507	31432914		Grubic, Z.  et al. 2004	15554365				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Croatia	CDC GDPinfo	3106	Hs.77961			Reumatizam. 2004 ;51(1):11-May	[The distribution of HLA alleles class I and class II among patientes with psoriatic arthritis in Croatia]		142830	21754	2	2004	The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B* 13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients.	Cohort 58 psoriatic arthritis patients (28 male and 30 female) Croatia 										
125326		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914			16362110				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):32-3	[HLA-class I and II genotyping in sarcoidosis patients.]		142830	21755	2	2005												
125327		multiple sclerosis	IMMUNE	IMM	Malaria|Multiple Sclerosis	6	6p21.3	HLA-B	31344507	31432914		Bitti, P. P.  et al. 2001	11180452				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Italy	CDC GDPinfo	3106	Hs.77961			Genetic epidemiology. 2001 Feb;20(2):271-83	Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.		142830	21756	2	2001		Case not defined in abstract central Sardinia;Control not defined in abstract										
125322		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-B	31344507	31432914		Li, S.  et al. 2004	15009808				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		142830	21751	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
125323	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Kitawaki, J.  et al. 2002	12392856				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Human immunology. 2002 Nov;63(11):1033-8	Association of HLA class I and class II alleles with susceptibility to endometriosis		142830	21752	2	2002	Therefore, our results indicated that the HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype was associated with endometriosis susceptibility. Our findings may provide an important clue to elucidating the pathogenesis of endometriosis.	Case:123 Japanese patients with endometriosis;Control:165 healthy women										
125324		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Ma, H. J.  et al. 2004	15321756				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Di yi jun yi da xue xue bao. 2004 Aug;24(8):900-3	[HLA-Cw alleles polymorphism and haplotypes in Guangdong Han population]		142830	21753	2	2004	 HLA-Cw alleles have richer polymorphisms and their linkage disequilibrium with HLA-A, B, DRB1 exhibits geographic genetic characteristics.	Cohort 185 bone marrow donors 										
125319		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Lymphatic Metastasis	6	6p21.3	HLA-B	31344507	31432914			16365741				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Spanish		CDC GDPinfo	3106	Hs.77961			Immunogenetics. 2006 Jan;57(12):926-33	HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis		142830	21748	2	2005												
125320	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-B	31344507	31432914		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	German	Germany	CDC GDPinfo	3106	Hs.77961			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		142830	21749	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
125321		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-B	31344507	31432914		Wang, C.  et al. 2004	15057902				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		142830	21750	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
125316		arthrofibrosis	OTHER	OTH	Joint Diseases|Knee Injuries|Genetic Predisposition to Disease|Fibrosis|Postoperative Complications	6	6p21.3	HLA-B	31344507	31432914		Skutek, M.  et al. 2004	15122136				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Germany	CDC GDPinfo	3106	Hs.77961			Arthroscopy. 2004 May;20(5):469-73	Screening for arthrofibrosis after anterior cruciate ligament reconstruction: analysis ofassociation with human leukocyte antigen.		142830	21745	2	2004	 A possible link may exist between arthrofibrosis and HLA-Cw*07- and DQB1*06-negative as well as Cw*08-positive individuals. Further investigation is necesessary to confirm or vitiate the possible association. LEVEL OF EVIDENCE: Level IV.	Cohort 17 patients with primary arthrofibrosis after autologous anterior cruciate ligament 										
125317		psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Lee, K. W.  et al. 2005	15853898				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Korean		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2005 May;65(5):437-47	Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population.		142830	21746	2	2005	Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.	Cohort 485 apparently unrelated healthy Korean individuals Korea 										
125318		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Malkki, M.  et al. 2005	16029431				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2005 Aug;66(2):114-24	MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donorhematopoietic transplantation and disease association studies.		142830	21747	2	2005												
125314		kidney transplant complications	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Rees, M. T.  et al. 2003	14551034				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Transplant immunology. 2003 Oct-Nov;12(1):73-8	HLA-A, B, C, DRB1, DQB1 matching heterogeneity in 'favourably matched' kidney recipients		142830	21743	2	2003	Considerable HLA-A, -B, -C, -DR, -DQ matching heterogeneity exists even amongst 'well matched' renal transplant patient groups. Little is known about the effects of combinations of mismatched specificities on graft survival. Thus, further investigation is merited particularly for HLA-C and -DQ mismatching.	Cohort 237 cadaveric donor/recipient pairs 										
125315		oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Chen, H. M.  et al. 2004	15061705				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Taiwanese	Taiwan	CDC GDPinfo	3106	Hs.77961			Journal of oral pathology & medicine. 2004 Apr;33(4):191-9	HLA typing in Taiwanese patients with oral submucous fibrosis.		142830	21744	2	2004	 We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF.	Case:135 Taiwanese oral submucous fibrosis patients:Taiwan;Control:540 healthy control Taiwanese										
125310		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Flores-Villanueva, P. O.  et al. 2003	12574360				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of immunology (Baltimore, Md :  1950). 2003 Feb;170(4):1925-9	Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.		142830	21739	2	2003	In conclusion, our study confirms that the molecular mechanisms underlying the associations between HLA genes and AIDS disease progression are not always direct effects of HLA restriction but can also be indirect effects due to LD, or both.	Control:198 slow progressors to AIDS;Case:74 rapid progressors to AIDS:France										
125311		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	HLA-B	31344507	31432914		Pedron, B.  et al. 2003	12665835				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Bone marrow transplantation. 2003 Mar;31(6):423-7	Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation.		142830	21740	2	2003	The use of these data to delineate search strategies is discussed.	Cohort 207 stem cell transplant patients north of France 										
125312		typhoid fever	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Machulla, H. K.  et al. 2003	12753667				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2003 Apr;61(4):292-9	Genetic affinities among Mongol ethnic groups and their relationship to Turks.		142830	21741	2	2003	The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.	Cohort Khalkha, Oold and Tsaatan Turks Mongolia 										
125307	N	lymphoma	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Maitland, K.  et al. 2004	15546341				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Dec;64(6):678-86	HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia.		142830	21736	2	2004	No consistent pattern was demonstrated for any HLA locus in relation to malaria endemicity.	Cohort 367 unrelated Melanesians Vanuatu and New Caledonia 										
125308		alveolitis, extrinsic allergic	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914			16362107				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):29	[HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).]		142830	21737	2	2005												
125309		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-B	31344507	31432914		Carrington, M.  et al. 2003	12525683				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Annual review of medicine. 2003 ;54:535-51	The influence of HLA genotype on AIDS		142830	21738	2	2003	Review article											
125304		stem cell transplantation outcome	UNKNOWN	UNK	Leukemia|Lymphoma|Anemia, Aplastic|Myelodysplastic Syndromes|Genetic Diseases, Inborn|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-B	31344507	31432914		Morishima, Y.  et al. 2002	12010826				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Blood. 2002 Jun;99(11):4200-6	The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.		142830	21733	2	2002	Thus, the role of the HLA class I allele in unrelated bone marrow transplantation was elucidated. Notably, HLA-C alleles had a different mode from HLA-A or -B alleles for acute GVHD and survival.	Cohort 1298 donor-patient pairs in cases where marrow was donated from serologically HLA-A, -B, and -DR compatible donors 										
125305		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-B	31344507	31432914		Yu, M. L.  et al. 2003	12825172				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Taiwanese	Taiwan	CDC GDPinfo	3106	Hs.77961			The Journal of infectious diseases. 2003 Jul;188(1):62-5	Human leukocyte antigen class I and II alleles and response to interferon-alpha treatment, in Taiwanese patients with chronic hepatitis C virus infection.		142830	21734	2	2003	This suggests a role for a complex host-immunogenetics interplay in the response to IFN-alpha, in patients with chronic HCV infection.	Cohort 100 unrelated Taiwanese patients with chronic hepatitis C virus infection 										
125306		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-B	31344507	31432914		McKiernan, S. M.  et al. 2004	15239092				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Hepatology (Baltimore, Md). 2004 Jul;40(1):108-14	Distinct MHC class I and II alleles are associated with hepatitis C viral clearance, originating from a single source.		142830	21735	2	2004	In conclusion, certain class I alleles are associated with outcome in this homogeneous cohort. More significantly, either HLA-A*03, -DRB1*0101, or -*0401 are carried by an overwhelming majority of those subjects who successfully clear HCV.	Cohort 227 										
125301		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Rajalingam, R.  et al. 2002	11904677				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Caucasian		CDC GDPinfo	3106	Hs.77961			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		142830	21730	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
125302		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		de Pablo, R.  et al. 2000	11169240				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	South American		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2000 Dec;56(6):507-14	HLA class I and class II allele distribution in the Peruvian population.		142830	21731	2	2000	Our data are consistent with the Mestizo character of this population. In terms of genetic distance Peruvians are closest to Bolivians, which is in agreement with the geographical location and the cultural and anthropological background of the two human groups. Several HLA-B alleles originally described in genetically isolated Amerindian tribes are also present in the sample studied here. This fact and the reported finding of these alleles in several Amerindian groups suggests that they were present in the first wave of humans that populated South America (Paleoindians) before they split to give rise to the different South American tribes.	Cohort Peruvian population sample Peru 										
125298		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-B	31344507	31432914		Muro, M.  et al. 2001	11543893				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Spanish		CDC GDPinfo	3106	Hs.77961			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		142830	21727	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
125299		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Farjadian, S.  et al. 2004	15496201				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		142830	21728	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
125300		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Yang, S.  et al. 2004	15245541				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		142830	21729	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
125295		pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-B	31344507	31432914		Kawa, S.  et al. 2002	11984513				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese	Japan	CDC GDPinfo	3106	Hs.77961			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		142830	21724	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)										
125296		graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-B	31344507	31432914		Shaw, B. E.  et al. 2003	12774051				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		142830	21725	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
125297		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-B	31344507	31432914		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		142830	21726	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
125292		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-B	31344507	31432914		Flomenberg, N.  et al. 2004	15191952				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		142830	21721	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
125293		lymphoma	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Tunisian		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		142830	21722	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
125294		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Saito, S.  et al. 2000	11169242				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		142830	21723	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
125289	Y	hepatitis C; hepatitis B	INFECTION	INF	Hepatitis B|Hepatitis, Viral, Human|Hepatitis A|Hepatitis C|Hepatitis D|Chronic Disease	6	6p21.3	HLA-B	31344507	31432914			15807454				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Kazakhstan|Russia	CDC GDPinfo	3106	Hs.77961			Ter Arkh. 2005 ;77(2):54-9	[Immunogenetic HLA markers of chronic viral hepatitis]		142830	21718	2	2005	 A universal role of HLA-B35 specificity in development of CVH irrespective of hepatotropic virus and patients' nationality is shown.	Cohort 179 Russian and Kazakhs patients with viral hepatitides B, C and D Astrakhan region 										
125290		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Li, D.  et al. 2005	16129034				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Aug;13(4):563-6	[Association of gene HLA-class I with leukemia]		142830	21719	2	2005												
125291		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Philippines	CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142830	21720	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
125286		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-B	31344507	31432914		Xiao, F. L.  et al. 2005	16185849				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Journal of dermatological science. 2006 Feb;41(2):109-19	Association of HLA class I alleles with aloplecia areata in Chinese Hans.		142830	21715	2	2005	 This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.											
125287		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Thrombophlebitis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Kaya, T. I.  et al. 2002	12372094				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish		CDC GDPinfo	3106	Hs.77961			Clinical and experimental dermatology. 2002 Sep;27(6):498-501	Association of class I HLA antigens with the clinical manifestations of Turkish patients with Bechet's disease.		142830	21716	2	2002	Statistically significant findings are as follows	Cohort 85 patients with Behcet's disease Turkey 										
125288	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid	6	6p21.3	HLA-B	31344507	31432914		Villalobos, C.  et al. 2003	14727382				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Venezuela	CDC GDPinfo	3106	Hs.77961			Invest Clin. 2003 Dec;44(4):283-9	[In Process Citation]		142830	21717	2	2003	No association was evident in Acute Lymphoid Leukemia. No negative association with Leukemias were observed.	Control:30 healthy controls;Case:60 Acute Lymphoid Leukemia and Myeloid Leukemia:patients										
125283		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Cao, K.  et al. 2001	11543903				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Human immunology. 2001 Sep;62(9):1009-30	Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations		142830	21712	2	2001	There was lack of correlation between the levels of heterozygosity and the number of alleles detected in each population.	Cohort 1296 unrelated subjects from five major outbred groups living in the U.S.A (African, AFAM; Caucasians, CAU; Asian, ORI; Hispanic, HIS, and North American Natives, NAI). US 										
125284		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-B	31344507	31432914		Zhang, X. J.  et al. 2003	14527733				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Journal of dermatological science. 2003 Oct;33(1):6-Jan	Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans		142830	21713	2	2003	 This study demonstrated the positive associations of HLA class I markers with psoriasis vulgaris, of which HLA-Cw*0602 was the strongest susceptibility determinant for development of early-onset psoriasis, in the southeastern Chinese Han population.	Case:166 Chinese Han patients with psoriasis vulgaris southeastern China;Control:204 healthy unrelated Hans										
125285		H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Li, Z. H.  et al. 2004	15662734				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		China	CDC GDPinfo	3106	Hs.77961			Yi chuan. 2004 Mar;26(2):143-6	[Studies of the relationship of HLA polymorphisms and the infection of H. pylori in the population of Linqu in Shandong Province]		142830	21714	2	2004												
125280		graft-versus-host disease	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Lan, J. C.  et al. 2001	12578601				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2001 Sep;9(3):251-255	[Research of Typing for HLA-A, -B on Cord Blood Lymphocytes]		142830	21709	2	2001	It was concluded that DNA typing is more preferable than serological typing, about B 15 group, the subtyping or high resolution typing can be fulfilled at first in China.	Cohort 102 cord blood samples 										
125281		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-B	31344507	31432914		Celik, G.  et al. 2004	15491536				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish	Turkey	CDC GDPinfo	3106	Hs.77961			Arch Bronconeumol. 2004 Oct;40(10):449-52	[Human leukocyte antigens A and B in Turkish patients with sarcoidosis]		142830	21710	2	2004	 These results suggest that both HLA may play significant roles (either increasing or reducing risk) in the pathogenesis of sarcoidosis and in its distinct clinical forms and laboratory findings.	Control:250 healthy controls;Case:83 Turkish sarcoidosis patients										
125282		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Wu, D. L.  et al. 2004	15567775				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Di yi jun yi da xue xue bao. 2004 Nov;24(11):1267-70	[Comparative studies of serological typing and HLA-A, B antigen genotyping with PCR using sequence-specific primers.]		142830	21711	2	2004	 DNA typing for HLA-I class (A, B antigens) by PCR-SSP has high resolution, high specificity, and good reproducibility, which is more suitable for clinical application than serological typing. PCR-SSP may accurately detect the alleles that are easily missed or mistaken in serological typing.	Cohort 34 clinical patients 										
125277		leukemia; colorectal cancer	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Han, S.  et al. 2005	16331567				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):665-7	[High resolution DNA typing for HLA-A, B, Cw genes by polymerase chain reaction-sequence specific oligonucleotide probes method in the Shenyang Han population.]		142830	21706	2	2005	 Using molecular method, the present authors have analyzed the characteristic of HLA I distribution in a group of indigenous Hans in Shenyang and thus have provided more accurate gene data for use in related researches.											
125278		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Kang, L.  et al. 2005	15793795				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):227-8	[Determination of HLA-A, -B allele polymorphism in the Luoba nationality living in Tibet Autonomous Region in China]		142830	21707	2	2005	 The distribution of HLA-A, -B allele polymorphism in the Luoba nationality is distinctive, but some of the gene distribution in the Luoba group is nearer to that in the Tibetan group. These are consistent with the results of ethnological, historical and sociological researches.	Cohort 92 healthy individuals of Luoba nationality Linzhi area, Tibet Autonomous Region 										
125279		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Xiao, W. Y.  et al. 2005	16120569				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Yi chuan. 2005 Jul;27(4):518-22	[Polymorphism research on the distribution of four HLA alleles in five Chinese populations]		142830	21708	2	2005												
125274	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Takizawa, K.  et al. 2003	12911283				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese	Japan	CDC GDPinfo	3106	Hs.77961			Autoimmunity. 2003 May;36(3):161-5	Association of transporter associated with antigen processing genes with Bechet's disease in Japanese.		142830	19753	2	2003	These results suggest the possibility that TAP molecule play some part in formation of skin lesion, such as erythema nodosum in BD in Japanese.	Case:46 Japanese patients with Behcet's disease;Control:95 healthy subjects										
125275		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Martinez-Borra, J.  et al. 2005	16297191				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Jewish	Israel	CDC GDPinfo	3106	Hs.77961			The Journal of investigative dermatology. 2005 Nov;125(5):928-32	The Region of 150 kb Telometic to HLA-C Is Associated with Psoriasis in the Jewish Population.		142830	21704	2	2005												
125276		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing	6	6p21.3	HLA-B	31344507	31432914		Neri, T. M.  et al. 2003	14567462				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Italy	CDC GDPinfo	3106	Hs.77961			Digestive and liver disease. 2003 Aug;35(8):571-6	Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.		142830	21705	2	2003	 These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.	Control:183 normal controls of the same population;Case:64 primary sclerosing cholangitis patients Northern Italy										
125271		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Falfan-Valencia, R.  et al. 2005	16133177				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Human genetics. 2005 Nov;118(2):235-44	Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis.		142830	17218	2	2005												
125272	Y	lung cancer; Lambert-Eaton myasthenic syndrome	CANCER	CAN	Carcinoma, Small Cell|Lambert-Eaton Myasthenic Syndrome|Lung Neoplasms	6	6p21.3	HLA-B	31344507	31432914		Wirtz, P. W.  et al. 2005	15652424				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Great Britain|Netherlands	CDC GDPinfo	3106	Hs.77961			Journal of neuroimmunology. 2005 Feb;159(2-Jan):230-7	HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome		142830	17476	2	2005	We propose that two distinct immunopathogenetic routes can lead to one clinically and serologically indistinguishable autoimmune myasthenic syndrome. HLA-DR3-B8 is strongly associated with LEMS in nontumor patients only. In other LEMS patients, SCLC apparently provides a powerful autoimmunogenic stimulus that overrides HLA restrictions in breaking tolerance to calcium channels. Moreover, negativity for HLA-B8 combined with smoking behavior points more strongly to an underlying SCLC and predicts a worse prognosis in SCLC-LEMS patients.	Control:controls;Case:48/29 British (n=48) and Dutch (n=29) Caucasian Lambert-Eaton myasthenic syndrome patients	smoking (tobacco)									
125273		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	6	6p21.3	HLA-B	31344507	31432914		Helbig, K. J.  et al. 2003	12595908				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		142830	19354	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
125268	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-B	31344507	31432914		Gonzalez, S.  et al. 2004	15089901				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			The American journal of gastroenterology. 2004 Apr;99(4):676-80	Association of MHC class I related gene B (MICB) to celiac disease.		142830	17191	2	2004	 The expression of MIC genes on enterocytes under stressful conditions and their function as ligands of intraepithelial gammadelta and CD8 T cells, together with the data presented here suggest a potential role of MIC genes in the pathogenesis of CD.	Control:116:controls;Case:133/28 celiac disease patients (n=133) and an additional DQ2-negative patients (n=28)		MIC	B0106	MICA	A5.1			Y		Celiac disease
125269		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Moraes, M. E.  et al. 2004	15194283				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Brazilian		CDC GDPinfo	3106	Hs.77961			Transplantation proceedings. 2004 May;36(4):823-4	Strong linkage disequilibrium between HLA-B*3913 and DRB1*0807 in Brazilians.		142830	17195	2	2004	Although numbers are small to predict which ethnic groups of the Brazilian population display this haplotype prevalently, it is possible to speculate that these data may have clinical application, such as in the selection of unrelated donors for bone marrow transplantation.	Cohort 2,560 healthy unrelated randomly selected individuals southeastern region of Brazil 										
125270		arthritis, psoriatic	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Feng, M. L.  et al. 2004	15304009				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Sep;64(3):281-5	Study on the haplotypes of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population.		142830	17201	2	2004	The microsatellite locus of exon 5 of the MICA gene and intron 1 of the MICB gene could therefore be used as genetic markers in the studies of anthropology, gene linkage analysis in genetic diseases, individual identification and paternity testing in forensic medicine.	Cohort 106 samples of the Guangzhou Han population China 										
125265		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Witt, C. S.  et al. 2002	12542740				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese	India|Europe	CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2002 Dec;60(6):474-80	Common HLA-B8-DR3 haplotype in Northern India is different from that found in Europe.		142830	17175	2	2002	It was found that the Indian samples represent a conserved haplotype in which all alleles were shared by Indian subjects with HLA-B8 and HLA-DR3, but were different to those that are characteristic of the European 8.1 ancestral haplotype. The Indian and European haplotypes share HLA-B*0801, HLA-DRB1*0301 and HLA-DQB1*02 but differ for subtypes of HLA-Cw*07 and HLA-DRB3 and all central MHC alleles tested. In contrast, Indian subjects selected on the basis of HLA-B58 ( 1-17) and HLA-DR3 shared the same alleles at other MHC loci as have been described in the common Chinese haplotype with HLA-B58/17 and HLA-DR3. A third haplotype, HLA-B50/21 and HLA-DR3, was also found to be highly conserved but shares little in common with the other two HLA-DR3-containing Indian haplotypes.	Cohort individuals from northern India 										
125266	Y	pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Slomov, E.  et al. 2003	12878355				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Jewish	Israel	CDC GDPinfo	3106	Hs.77961			Human immunology. 2003 Aug;64(8):771-9	Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.		142830	17181	2	2003	These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process.	Case:38 Jewish pemphigus vulgaris patients;Control:76 healthy controls										
125262		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		De la Concha, E. G.  et al. 2002	12370403				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of immunology (Baltimore, Md :  1950). 2002 Oct;169(8):4637-43	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes.		142830	17170	2	2002	Our results show how, in complex diseases, individuals may be affected for different genetic reasons and a single linkage signal to a region of a chromosome may actually be the result of disease-predisposing alleles in different linked genes in different pedigrees.	Case:182 IgA deficiency patients (and parents and siblings of 100 of these patients);Control:343:controls										
125263		stroke, ischemic	CARDIOVASCULAR	CARD	Respiratory Tract Infections|Cerebrovascular Accident|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Zou, L. P.  et al. 2002	12373032				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		China	CDC GDPinfo	3106	Hs.77961			European neurology. 2002 ;48(3):153-7	Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.		142830	17172	2	2002	Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition.	Case idiopathic childhood stroke subjects;Control:controls	bacterial infection viral infection	HLA-B51	DRB1*0802-DRA1*0401-DQB1*0402 haplotype					Y	chronic smoking (tobacco)	idiopathic childhood ischemic stroke
125264	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Grubic, Z.  et al. 2001	12476735				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Croatia	CDC GDPinfo	3106	Hs.77961			Reumatizam. 2001 ;48(1):11-Jul	[Variation in HLA-B27 gene subtypes and susceptibility of ankylosing spondylitis in the Croatian population]		142830	17173	2	2001	No significant evidence for association between AS and a particular HLA-B27 subtype in the Croatian population were found.	Control:38 B27 positive controls;Case:50 ankylosing spondylitis patients:Croatia										
125259		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Sanjeevi, C. B.  et al. 2002	12021089				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Annals of the New York Academy of Sciences. 2002 Apr;958:107-11	Genetics of latent autoimmune diabetes in adults.		142830	17167	2	2002	These findings suggest that certain genetic markers distinguish LADA better.											
125260	Y	spondyloarthropathies	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Vargas-Alarcon, G.  et al. 2002	12117677				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Mexican	Mexico	CDC GDPinfo	3106	Hs.77961			Annals of the rheumatic diseases. 2002 Aug;61(8):714-7	Effect of HLA-B and HLA-DR genes on susceptibility to and severity of spondyloarthropathies in Mexican patients.		142830	17168	2	2002	 Apart from HLA-B27, there is a significant association of HLA-DR1 and HLA-B15 with SpA in Mexicans which is independent of B27. HLA-B27 is associated with younger age at onset and increased disease severity and HLA-DR1 with older age at onset. The strength of HLA-B15, HLA-B27, and HLA-DR1 associations varied in different forms of SpA.	Case:172 patients with spondyloarthropathies (undifferentiated SpA 83, ankylosing spondylitis (AS) 64, and reactive arthritis 25);Control:99 healthy controls		HLA	B15	HLA	B27	HLA	DR1	Y		spondyloarthropathies
125261	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Gul, A.  et al. 2002	12209364				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Turkey	CDC GDPinfo	3106	Hs.77961			Genes and immunity. 2002 Sep;3(6):368-72	A weak association of HLA-B*2702 with Bechet's disease.		142830	17169	2	2002	Selective increase of B*2702, the only B*27 allele carrying the same KIR binding sequence with B*51, warrants investigation of the possibility of interaction of HLA molecules with KIRs on NK or other T cells in the pathogenesis of BD.	Case:174 Turkish Behcet's disease patients;Control:191 healthy controls										
125256		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Teramoto, M.  et al. 2004	15212671			promoter	Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			American journal of reproductive immunology (New York, NY :  1989). 2004 May;51(5):352-7	Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility.		142830	14415	2	2004	 Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.	Case:123 patients with endometriosis;Control:165 fertile healthy women										
125257		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-B	31344507	31432914		Tuokko, J.  et al. 2001	11229461				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Finnish	Finland	CDC GDPinfo	3106	Hs.77961			Arthritis and rheumatism. 2001 Feb;44(2):315-22	HLA haplotype analysis in Finnish patients with rheumatoid arthritis		142830	17163	2	2001	 Both protection-associated and susceptibility-associated alleles can be found among HLA class II genes, and the results suggest that loci outside DR/DQ may contribute to the pathogenesis of RA.	Case:67 Finnish RA patient haplotypes;Control:77 control haplotypes										
125258		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Lopez-Vazquez, A.  et al. 2002	11839711				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Gut. 2002 Mar;50(3):336-40	MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.		142830	17165	2	2002	 Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.	Control:116 healthy controls;Case:133 Spanish celiac patients		HLA	DR7/DQ2 and B8/DR3/DQ2	MICA	A5.1			Y		Coeliac disease
125253		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Dorak, M. T.  et al. 2005	15902698				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.		142830	11276	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
125254	Y	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-B	31344507	31432914		Lopez-Vazquez, A.  et al. 2005	15784466				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Zambian	Zambia	CDC GDPinfo	3106	Hs.77961			Human immunology. 2005 Mar;66(3):285-9	Interaction between KIR3DL1 and HLA-B*57 supertype alleles influences the progression of HIV-1 infection in a Zambian population.		142830	12089	2	2005	The presence of the inhibitory allele KIR3DL1 in combination with the HLA-B*57s alleles that contain the Bw4-I80 epitope, has a highly protective effect against progression to AIDS in Zambian patients.	Cohort 88 Zambian patients with HIV-1 		KIR	3DL1	HLA	B*57S			Y		HIV-1 infection
125255		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility	6	6p21.3	HLA-B	31344507	31432914		Fraile, A.  et al. 2000	11096258				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Spanish	Spain	CDC GDPinfo	3106	Hs.77961			Experimental and clinical immunogenetics. 2000 ;17(4):199-204	TAP1 and TAP2 Polymorphism in Spanish Patients with Ankylosing Spondylitis		142830	14134	2	2000	No differences were observed in TAP2 alleles	Case:44 AS individuals;Control:61/35 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as:controls										
125250		measles	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Ovsyannikova, I. G.  et al. 2004	15121303				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Vaccine. 2004 May;22(15-16):1914-20	Associations between human leukocyte antigen (HLA) alleles and very high levels of measles antibody following vaccination.		142830	11053	2	2004	These data increase our understanding of measles vaccine-induced immune response and will be useful for future mechanistic work on measles virus antigen processing and presentation in seronegative and hyperseropositive individuals.	Cohort 170 US schoolchildren who received one dose of measles-mumps-rubella II vaccine US 										
125251		leukemia	CANCER	CAN		6	6p21.3	HLA-B	31344507	31432914		Li, Z.  et al. 2005	15854279				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		CDC GDPinfo	3106	Hs.77961			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Apr;13(2):215-8	[Polymorphism of HLA-B* 40 gene family in Chinese Han population.]		142830	11065	2	2005	It is concluded that in Chinese Han population, predominant allele in HLA-B * 40 gene family is B * 4001, the high-resolution typing may recommeded to use for the selection of clinical transplantation donor.	Cohort 381 individuals randomly selected from Chinese National Marrow Donor Project 										
125252		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Hughes, E. H.  et al. 2005	16101830				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Caucasian		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2005 Sep;66(3):195-9	Associations of major histocompatibility complex class I chain-related molecule polymorphisms with Behcet's disease in Caucasian patients.		142830	11067	2	2005												
125248	Y	cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Bittencourt, P. L.  et al. 2002	12235090			promoter	Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Brazil	CDC GDPinfo	3106	Hs.77961			Gut. 2002 Oct;51(4):609-10	Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.		142830	11042	2	2002	In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues.	Case:63 Brazilian patients with primary sclerosing:cholangitis Sao Paulo, Brazil;Control:83 healthy controls										
125249	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Mizuki, N.  et al. 2002	12492815				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Iranian	Iran	CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2002 Nov;60(5):396-9	Analysis of microsatellite polymorphism around the HLA-B locus in Iranian patients with Bechet's disease.		142830	11046	2	2002	As a result, three microsatellite alleles (MICA-A6, MIB-348, C1-4-1-217) and HLA-B51 were found to be strongly associated with BD. Of these alleles HLA-B51 is the most strongly associated allele. There were no alleles that were increased in allele frequency at any microsatellite loci centromeric of MICA or telomeric of HLA-B51. Therefore, HLA-B51 was confirmed to be by far the most strongly associated gene with BD in an Iranian population.	Case:84 Iranian Behcet's disease patients;Control:87 healthy ethnically matched controls										
125244	Y	hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Ventricular Outflow Obstruction|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914	0.00645, 0.000209	shankarkumar 2004	15213074	B51 allele first reported to be associated in Indian population.		coding sequence	major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	India	India	Dr.U.Shankarkumar	3106	Hs.77961	B51, A2-B51-DR2 haplotype		Asian cardiovascular & thoracic annals. 2004 Jun;12(2):107-10	Human leucocyte antigen in Hypertrophic cardiomyopathy patients from South India.		142830	3130	1	2004		Case:14; Control:81										
125245	Y	leukemia, chronic lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Chronic	6	6p21.3	HLA-B	31344507	31432914		Machulla, H. K.  et al. 2001	11291046				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Germany	CDC GDPinfo	3106	Hs.77961			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):203-7	Association of chronic lymphocytic leukemia with specific alleles of the HLA-DR4:DR53:DQ8 haplotypein German patients		142830	11033	2	2001	Our results suggest that factors within or close to the human MHC class II region confer susceptibility to CLL.	Case:101 CLL patients:Germany;Control:157 healthy controls:Germany										
125246		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Salvarani, C.  et al. 2001	11508592				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Italian	Italy	CDC GDPinfo	3106	Hs.77961			The Journal of rheumatology. 2001 Aug;28(8):1867-70	Association of MICA alleles and HLA-B51 in Italian patients with Behcet's disease		142830	11036	2	2001	 HLA-B51 is the most important susceptibility gene in BD. Association with MICA-A6, when it exists, is secondary to the strong linkage disequilibrium with HLA-B51.	Control:130 healthy subjects from the same geographic area;Case:69 consecutive Italian patients who satisfied the International Study Group criteria for BD:Italy										
125241	Y	Stevens-Johnson syndrome	IMMUNE	IMM	Stevens-Johnson Syndrome	6	6p21.3	HLA-B	31344507	31432914	3.13x 10(-27)	Chung WH 2004	15057820	HLA-B*1502,		coding sequence	major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Han Chinese	China	KGB	3106	Hs.77961	induced by carbamazepine		Nature. 2004 Apr;428(6982):486	Medical genetics: a marker for Stevens-Johnson syndrome.		142830	3126	1	2004		Case:44; Control:101										
125242	N	Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Beghe B 2004	14674935				major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961	toluene diisocyanate-induced asthma		Allergy. 2004 Jan;59(1):61-4	Lack of association of HLA class I genes and TNF alpha-308 polymorphism in toluene diisocyanate-induced asthma.		142830	3127	1	2004	 These results suggest that HLA class I antigens and TNF-alpha A-308G are not associated with susceptibility or resistance to the development of TDI-induced asthma.											
125243	Y	Haemophilia with Chronic synovitis	IMMUNE	IMM	Synovitis|Hemophilia A|Chronic Disease	6	6p21.3	HLA-B	31344507	31432914	< 0.0001	K.Ghosh 2003	12648975	First report of HLA B27 involvement in Chronic synovitis among haemophilia patients		coding sequence	major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian	India	Dr.U.Shankarkumar	3106	Hs.77961	B27		Lancet. 2003 Mar;361(9361):933-4	Chronic synovitis and HLA B27 in patients with severe haemophilia		142830	3129	1	2003	We conclude that  there is a strong association between HLA B27 and chronic synovitis in Indian patients with severe haemophilia and screening in this population could allow treatment and prevention of the complication.	Case:473; Control:1175										
125238		sarcoidosis	OTHER	OTH	Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Grunewald J 2004	14656748	HLA-B*07			major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Scandinavian		KGB	3106	Hs.77961			American journal of respiratory and critical care medicine. 2004 Mar;169(6):696-702	Human leukocyte antigen class I alleles and the disease course in sarcoidosis patients.		142830	3123	1	2004												
125239		abacavir hypersensitivity	NORMALVARIATION	NV	Drug Hypersensitivity	6	6p21.3	HLA-B	31344507	31432914	1e-05	Martin AM 2004	15024131	HLA-B*5701			major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Australian		KGB	3106	Hs.77961			Proceedings of the National Academy of Sciences of the United States of America. 2004 Mar;101(12):4180-5	Predisposition to abacavir hypersensitivity conferred by HLA-B*5701 and a haplotypic Hsp70-Hom variant.		142830	3124	1	2004		Case:200										
125240		cancer	CANCER	CAN	Neoplasms|Melanoma	6	6p21.3	HLA-B	31344507	31432914		Reker S 2004	14712500				major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			International journal of cancer. Journal international du cancer. 2004 Mar;108(6):937-41	HLA-B35-restricted immune responses against survivin in cancer patients.		142830	3125	1	2004												
125234		maternal microchimerism	OTHER	OTH		6	6p21.3	HLA-A	29963507	30085130		Berry, S. M.  et al. 2004	15128924				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		142800	24584	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
125235		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-B	31344507	31432914		Wang 1988	3217937	HLA-Bw61			major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		China	KCB	3106	Hs.77961			Tissue antigens. 1988 Oct;32(4):215-7			142830	3120	1	1988												
125236	Y	chronic hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-B	31344507	31432914		Romero-Gomez M 2003	12873589	B44			major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961	sustained response to interferon + ribavirin therapy		The American journal of gastroenterology. 2003 Jul;98(7):1621-6	HLA class I B44 is associated with sustained response to interferon + ribavirin therapy in patients with chronic hepatitis C.		142830	3121	1	2003	 HLA class I B44 is related to a higher rate of SR in combination therapy but not in interferon monotherapy, whereas HLA class II, tumor necrosis factor-alpha -238A or -308A seem not to influence response to the antiviral therapy. These findings may be of value in therapy selection for hepatitis C-infected patients.											
125231		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-A	29963507	30085130		Shao, W.  et al. 2004	15304010				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		142800	21702	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
125233		cholesterol, HDL; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Whiting, B. M.  et al. 2005	16086925				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			American heart journal. 2005 Aug;150(2):243-50	Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.		142800	24583	2	2005	 Five SNPs predicted differences in risk-related lipids but not angiographic CAD. These discrepancies suggest that genetic determinants of CAD are complex and intermediate phenotypes are poor surrogates. These findings have important implications for future directions in genetic research.											
125228		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	6	6p21.3	HLA-A	29963507	30085130		Liu, C.  et al. 2004	15385740				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	non-Hispanic homosexual men		CDC GDPinfo	3105	Hs.181244			Journal of acquired immune deficiency syndromes (1999). 2004 Oct;37(2):1313-7	Lack of associations between HLA class II alleles and resistance to HIV-1 infection among white, non-Hispanic homosexual men.		142800	21699	2	2004												
125229		cholesterol, HDL; lipoprotein	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Talmud, P. J.  et al. 2002	12174215				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Annals of human genetics. 2002 Mar;66(Pt 2):111-24	Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men.		142800	21700	2	2002	Thus despite the key roles played by these enzymes in HDL metabolism, variation at these loci, at least as detected by these common genotypes, contributes minimally to the variance in HDL-C and apoAI levels in healthy men, highlighting the polygenic and multifactorial control of HDL-C.	Cohort 2773 healthy middle-aged men participating in the second Northwick Park Heart Study 	alcohol smoking (tobacco)									
125225		preeclampsia	REPRODUCTION	REP	Pregnancy Complications, Infectious|Cytomegalovirus Infections|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Carreiras, M.  et al. 2002	12443029				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			American journal of reproductive immunology (New York, NY :  1989). 2002 Sep;48(3):176-83	Preeclampsia: a multifactorial disease resultingfrom the interaction of the feto-maternal HLA genotype and HCMV infection.		142800	17489	2	2002	 The results suggest that the presence of alleles HLA-G*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of preeclampsia.	Case mothers with preeclampsia and their neonates;Control mothers with a normal history of pregnancies and their neonates	human cytomegalo virus									
125226		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Rajalingam, R.  et al. 2002	11904677				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Caucasian		CDC GDPinfo	3105	Hs.181244			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		142800	17934	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
125223	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-A	29963507	30085130		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	German	Germany	CDC GDPinfo	3105	Hs.181244			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		142800	17480	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
125224		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-A	29963507	30085130		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		142800	17482	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 		HLA class I		HLA class II				Y		stem-cell transplantation
125220	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Loiseau, P.  et al. 2001	11423179				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Human immunology. 2001 Jul;62(7):725-31	HLA class I and class II are both associated with the genetic predisposition to primary Sj????gren syndrome.		142800	17336	2	2001	The novel association of HLA class I alleles with susceptibility to pSS provides new insights to the genetic predisposition to this disease and subsequently to its physiopathology.	Control:222 healthy unrelated Caucasians;Case:46 pSS patients responding to the European criteria										
125222		sporadic inclusion body myositis	UNKNOWN	UNK	Myositis, Inclusion Body|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Price, P.  et al. 2004	15496200				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Nov;64(5):575-80	Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an associationwith HLA-DR3.		142800	17473	2	2004	The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele.	Control:214 ethnically similar controls;Case:42 sporadic inclusion body myositis patients										
125217		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130			16362110				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):32-3	[HLA-class I and II genotyping in sarcoidosis patients.]		142800	17219	2	2005												
125218		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Lymphatic Metastasis	6	6p21.3	HLA-A	29963507	30085130			16365741				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Spanish		CDC GDPinfo	3105	Hs.181244			Immunogenetics. 2006 Jan;57(12):926-33	HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis		142800	17220	2	2005												
125219		autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Hunt, P. J.  et al. 2001	11678832				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Caucasian		CDC GDPinfo	3105	Hs.181244			Clinical endocrinology. 2001 Oct;55(4):491-9	Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease.		142800	17246	2	2001	 These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. AIH differs from GD, being less influenced by the MHC region.	Case:215 patients with autoimmune thyroid disease (GD 135, AIH 77);Control:267 control subjects not otherwise specified in:abstract										
125214		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Malkki, M.  et al. 2005	16029431				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2005 Aug;66(2):114-24	MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donorhematopoietic transplantation and disease association studies.		142800	17215	2	2005												
125215		neuropathy, small fiber	NEUROLOGICAL	NEUR	Autonomic Nervous System Diseases|Sarcoidosis|Disease Progression	6	6p21.3	HLA-A	29963507	30085130		Voorter, C. E.  et al. 2005	16053028				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Jun;22(2):129-32	Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.		142800	17216	2	2005	 This association might be correlated with a severe course of the disease.											
125216	Y	leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Li, D.  et al. 2005	16129034				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Aug;13(4):563-6	[Association of gene HLA-class I with leukemia]		142800	17217	2	2005												
125212	Y	leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Gao, S. Q.  et al. 2005	15854278				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Apr;13(2):210-4	[Study on the correlation between acute lymphoblastic leukemia and HLA genes in southern China Han population.]		142800	17213	2	2005	It is concluded that HLA-A26, B56 and DR9 gene have a high correlation with ALL and seem to contribute the genetic susceptibility to ALL in southen Chinese Han populations. However, HLA-A30, A33 and B58 gene seem to have protective role for southern Han individuals suffered from ALL.	Case:201 acute lymphoblastic leukemia patients diagnosed as patient group from southern Han individuals;Control:4,707 healthy volunteer bone morrow donors from southern Chinese Han population										
125213		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Windsor, L.  et al. 2005	15858601				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Genes and immunity. 2005 Jun;6(4):298-304	Does a central MHC gene in linkage disequilibrium with HLA-DRB1*0401 affect susceptibility to type 1 diabetes?		142800	17214	2	2005	Here, alleles characteristic of the 62.1AH (C4B3, IKBL+446(*)T and HLA-A2,B15) were screened in donors preselected for HLA-DRB1(*)0401. C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II. However, increases in carriage of IKBL+446(*)T and HLA-A2,B15 were marginal, as too few control subjects were available with the diabetogenic alleles. However, with these tools, selection of HLA-DRB1(*)0401, DQB1(*)0302 donors who are positive and negative for C4B3 will allow bidirectional mapping of diabetes genes in the central MHC.	Cohort individuals from a largely Caucasian cohort from Western Australia 										
125209	Y	hepatitis, fulminant non-A, nonB	INFECTION	INF	Hepatitis C	6	6p21.3	HLA-A	29963507	30085130		Gow, P.  et al. 2005	15836703				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of gastroenterology and hepatology. 2005 Apr;20(4):555-61	Association of fulminant non-A non-B hepatitis with homozygosity for HLA A1-B8-DR3.		142800	17210	2	2005	 Homozygosity for the HLA haplotype A1-B8-DR3 confers susceptibility to the development of fulminant NANB hepatitis. This observation may imply a role for the immune response genes (which are flanked by HLA B and DR) in the pathogenesis of this syndrome.	Control:1,449 local Caucasian controls;Case:55 adult Caucasian fulminant NANB patients										
125210		psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Lee, K. W.  et al. 2005	15853898				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Korean		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2005 May;65(5):437-47	Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population.		142800	17211	2	2005	Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.	Cohort 485 apparently unrelated healthy Korean individuals Korea 										
125206		multiple sclerosis; optic neuritis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis	6	6p21.3	HLA-A	29963507	30085130		Amirzargar, A. A.  et al. 2005	15613143				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			European journal of neurology. 2005 Jan;12(1):25-30	Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-upstudy		142800	17207	2	2005	In conclusion existence of common genetic basis for early manifestations of MS could be suggested.	Control:controls;Case:56 Iranian optic neuritis and multiple sclerosis patients (46 females and 10 males)										
125207	Y	pulmonary hypertension; thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Embolism|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Tanabe, N.  et al. 2005	15640334				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Japan	CDC GDPinfo	3105	Hs.181244			The European respiratory journal. 2005 Jan;25(1):131-8	Association of clinical features with HLA in chronic pulmonary thromboembolism		142800	17208	2	2005	These observations suggested that both the susceptibility and clinical characteristics of chronic thromboembolic pulmonary hypertension were controlled in part by the HLA-B and -DPB1 loci.	Control:678:conrols;Case:80 Japanese patients with chronic thromboembolic pulmonary hypertension		HLA-B	*5201	DPB1	*0202			Y		chronic thromboembolic pulmonary hypertension
125204		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-A	29963507	30085130		Celik, G.  et al. 2004	15491536				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Turkish	Turkey	CDC GDPinfo	3105	Hs.181244			Arch Bronconeumol. 2004 Oct;40(10):449-52	[Human leukocyte antigens A and B in Turkish patients with sarcoidosis]		142800	17205	2	2004	 These results suggest that both HLA may play significant roles (either increasing or reducing risk) in the pathogenesis of sarcoidosis and in its distinct clinical forms and laboratory findings.	Control:250 healthy controls;Case:83 Turkish sarcoidosis patients										
125205		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Wu, D. L.  et al. 2004	15567775				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Di yi jun yi da xue xue bao. 2004 Nov;24(11):1267-70	[Comparative studies of serological typing and HLA-A, B antigen genotyping with PCR using sequence-specific primers.]		142800	17206	2	2004	 DNA typing for HLA-I class (A, B antigens) by PCR-SSP has high resolution, high specificity, and good reproducibility, which is more suitable for clinical application than serological typing. PCR-SSP may accurately detect the alleles that are easily missed or mistaken in serological typing.	Cohort 34 clinical patients 										
125201		IgA, IgD, IgG, IgM	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Marroni, F.  et al. 2004	15361126				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Italian		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Oct;64(4):478-85	Microgeographic variation of HLA-A, -B, and -DR haplotype frequencies in Tuscany, Italy:implications for recruitment of bone marrow donors.		142800	17202	2	2004	A considerable level of heterogeneity of haplotype frequency was present among subsamples; this heterogeneity was associated to a large variation (up to 4-fold) of the number of new donors that must be typed in order to reach 50% chance of finding an HLA-A, -B phenotype of intermediate frequency. Knowledge of the genetic structure of the population at a microgeographic level may be useful in directing the search of specific bone marrow donors.	Cohort 2,355 bone marrow donors a subregion of Tuscany (Italy) 										
125202		lymphoma	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Tunisian		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		142800	17203	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
125198		hypothyroidism	METABOLIC	MET	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	HLA-A	29963507	30085130		Bougacha-Elleuch, N.  et al. 2004	15236755				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Tunisian	Tunisia	CDC GDPinfo	3105	Hs.181244			Journal of autoimmunity. 2004 Aug;23(1):75-80	Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF-308 gene polymorphism.		142800	17198	2	2004	Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis.	Cohort 62 patients from a Tunisian isolate with a high prevalence of autoimmune thyroid disease (32 with Graves disease, 9 with Hashimoto thyroiditis and 21 with primary idiopathic myxoedema) 										
125199		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Yang, S.  et al. 2004	15245541				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		142800	17199	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
125196	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Translocation, Genetic	6	6p21.3	HLA-A	29963507	30085130		Mundhada, S.  et al. 2004	15202948				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			BMC cancer [electronic resource]. 2004 Jun;4:25	Association of HLA Class I and Class II genes with bcr-abl transcripts in leukemia patients with t(9;22) (q34;q11)		142800	17196	2	2004	 The negative associations of a particular bcr-abl transcript with specific HLA alleles suggests that these alleles play a critical role in presenting peptides derived from the chimeric proteins and eliciting a successful T-cell cytotoxic response. Knowledge of differential associations between HLA phenotypes and bcr-abl fusion transcript types would help in developing better strategies for immunization with the bcr-abl peptides against t(9;22) (q34;q11)-positive leukemia.	Cohort 189 patients of mixed ethnicity with chronic myelogenous leukemia and acute lymphocytic leukemia who were being considered for bone marrow transplantation 										
125197		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-A	29963507	30085130		Xu, R.  et al. 2004	15228651				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Jun;12(3):282-6	[Prediction of acute GVHD after umbilical cord blood transplantation by HLA three-dimensional structure matching]		142800	17197	2	2004	In conclusion, utilization of modeling HLA molecular three-dimension can predict the severe aGVHD after UCBT quickly, simply and accurately. It provides scientific basis in choosing a optimal cord blood donor to avoid severe aGVHD for physicians and the cord blood banks. And it is instructive too to direct the application of immunosuppressive agents after transplantation in clinic.	Cohort 25 patients with blood disorder who underwent UCBT and their donors 										
125194		arthrofibrosis	OTHER	OTH	Joint Diseases|Knee Injuries|Genetic Predisposition to Disease|Fibrosis|Postoperative Complications	6	6p21.3	HLA-A	29963507	30085130		Skutek, M.  et al. 2004	15122136				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Germany	CDC GDPinfo	3105	Hs.181244			Arthroscopy. 2004 May;20(5):469-73	Screening for arthrofibrosis after anterior cruciate ligament reconstruction: analysis ofassociation with human leukocyte antigen.		142800	17192	2	2004	 A possible link may exist between arthrofibrosis and HLA-Cw*07- and DQB1*06-negative as well as Cw*08-positive individuals. Further investigation is necesessary to confirm or vitiate the possible association. LEVEL OF EVIDENCE: Level IV.	Cohort 17 patients with primary arthrofibrosis after autologous anterior cruciate ligament 										
125195		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-A	29963507	30085130		Flomenberg, N.  et al. 2004	15191952				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		142800	17194	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
125192	Y	graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-A	29963507	30085130		Li, S.  et al. 2004	15009808				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		142800	17188	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
125193		oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Chen, H. M.  et al. 2004	15061705				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Taiwanese	Taiwan	CDC GDPinfo	3105	Hs.181244			Journal of oral pathology & medicine. 2004 Apr;33(4):191-9	HLA typing in Taiwanese patients with oral submucous fibrosis.		142800	17189	2	2004	 We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF.	Case:135 Taiwanese oral submucous fibrosis patients:Taiwan;Control:540 healthy control Taiwanese										
125189		kidney transplant complications	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Rees, M. T.  et al. 2003	14551034				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Transplant immunology. 2003 Oct-Nov;12(1):73-8	HLA-A, B, C, DRB1, DQB1 matching heterogeneity in 'favourably matched' kidney recipients		142800	17184	2	2003	Considerable HLA-A, -B, -C, -DR, -DQ matching heterogeneity exists even amongst 'well matched' renal transplant patient groups. Little is known about the effects of combinations of mismatched specificities on graft survival. Thus, further investigation is merited particularly for HLA-C and -DQ mismatching.	Cohort 237 cadaveric donor/recipient pairs 										
125190		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	6	6p21.3	HLA-A	29963507	30085130		Shankarkumar, U.  et al. 2002	14686115				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Indian	India	CDC GDPinfo	3105	Hs.181244			Indian journal of malariology. 2002 Sep-Dec;39(4-Mar):76-82	HLA associations in P. falciparum malaria patients from Mumbai, western India		142800	17186	2	2002	These observations revealed the importance of ethnic background, which has to be taken into consideration while developing an ideal malaria vaccine. Further, when compared to HLA associations of other world populations the present study indicates the relative importance of different HLA alleles that may vary in different populations.	Control:101 normal sex, age, and ethnically matched controls;Case:171 severe P. falciparum malaria patients										
125187		periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Stein, J.  et al. 2003	12941076				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of periodontal research. 2003 Oct;38(5):508-17	Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis?		142800	17182	2	2003	 The present study elucidates the variety of HLA associations and therefore the difficulty to assign single HLA markers to periodontal disease. Susceptibility/resistance of both aggressive and chronic periodontitis may rather be influenced by particular HLA marker combinations. Associated HLA haplotypes may be of further importance for unknown gene loci representing a part of the genetic background for periodontitis. The different associations in aggressive and chronic periodontitis indicate different susceptibility/resistance factors for both diseases.	Control:102 control probands without periodontitis;Case:50/102 German Caucasian groups with generalized aggressive (N = 50) and chronic (N = 102) periodontitis										
125188		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-A	29963507	30085130		Zivadinov, M. D. = PhD R et al. 2003	14504973				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of neurology. 2003 Sep;250(9):1099-106	HLA genotypes and disease severity assessed by magnetic resonance imaging findings in patients with multiple sclerosis.		142800	17183	2	2003	The study findings suggest that some HLA alleles may predict the destructive pathological processes visible on MRI. Since the size of the sample studied is relatively small, further studies are needed to draw any firm conclusion about genotype/phenotype correlation in patients with MS.	Case:100 patients with multiple sclerosis;Control:122 age, sex-, ethnic- and residence-matched controls										
125185		typhoid fever	INFECTION	INF		6	6p21.3	HLA-A	29963507	30085130		Machulla, H. K.  et al. 2003	12753667				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Turkish		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2003 Apr;61(4):292-9	Genetic affinities among Mongol ethnic groups and their relationship to Turks.		142800	17179	2	2003	The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.	Cohort Khalkha, Oold and Tsaatan Turks Mongolia 										
125186		graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-A	29963507	30085130		Shaw, B. E.  et al. 2003	12774051				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		142800	17180	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
125183		graft-versus-host disease	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Lan, J. C.  et al. 2001	12578601				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2001 Sep;9(3):251-255	[Research of Typing for HLA-A, -B on Cord Blood Lymphocytes]		142800	17177	2	2001	It was concluded that DNA typing is more preferable than serological typing, about B 15 group, the subtyping or high resolution typing can be fulfilled at first in China.	Cohort 102 cord blood samples 										
125184		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	HLA-A	29963507	30085130		Pedron, B.  et al. 2003	12665835				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Bone marrow transplantation. 2003 Mar;31(6):423-7	Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation.		142800	17178	2	2003	The use of these data to delineate search strategies is discussed.	Cohort 207 stem cell transplant patients north of France 										
125179	Y	pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-A	29963507	30085130		Kawa, S.  et al. 2002	11984513				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Japanese	Japan	CDC GDPinfo	3105	Hs.181244			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		142800	17166	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)		HLA-DRB1	*0405	HLA-DQB1	*0401			Y		autoimmune pancreatitis in Japanese population
125180		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Thrombophlebitis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Kaya, T. I.  et al. 2002	12372094				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Turkish		CDC GDPinfo	3105	Hs.181244			Clinical and experimental dermatology. 2002 Sep;27(6):498-501	Association of class I HLA antigens with the clinical manifestations of Turkish patients with Bechet's disease.		142800	17171	2	2002	Statistically significant findings are as follows	Cohort 85 patients with Behcet's disease Turkey 										
125176	Y	multiple sclerosis	IMMUNE	IMM	Malaria|Multiple Sclerosis	6	6p21.3	HLA-A	29963507	30085130		Bitti, P. P.  et al. 2001	11180452				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Italy	CDC GDPinfo	3105	Hs.181244			Genetic epidemiology. 2001 Feb;20(2):271-83	Association between the ancestral haplotype HLA A30B18DR3 and multiple sclerosis in central Sardinia.		142800	17161	2	2001		Case not defined in abstract central Sardinia;Control not defined in abstract										
125178		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lombardi, M. L.  et al. 2001	11423176				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jul;62(7):701-4	Crohn disease: susceptibility and diseaseheterogeneity revealed by HLA genotyping.		142857	17164	2	2001	A positive association with the rare haplotype DRB1*07, DQB1*0303, and a protective effect of the haplotype DRB1*03, DQB1*0201, were found in Crohn's disease patients. Variability of the HLA alleles frequency in CD subgroups was observed, supporting the hypothesis of a genetic heterogeneity of the disease and suggesting that HLA alleles distribution in selected groups may allow to identify patients with probably different prognosis or associated complications.	Cohort 107 patients with Crohn's disease 										
125173	Y	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Liu, C.  et al. 2003	12717621				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			The Journal of infectious diseases. 2003 May;187(9):1404-10	Association of polymorphisms in human leukocyte antigen class I and transporter associated with antigen processing genes with resistance to human immunodeficiency virus type 1 infection.		142800	14168	2	2003	In multivariate logistic analysis, only the A*0205 subgroup and the TAP2 Ala665 were associated with resistance.	Control:100 HIV-seronegative men who had been exposed repeatedly to HIV-1;Case:184 men who had seroconverted to HIV positive and had lower risk										
125174		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Smerdel, A.  et al. 2002	12115193				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Arthritis and rheumatism. 2002 Jun;46(6):1614-9	A gene in the telomeric HLA complex distinct from HLA-A is involved in predisposition to juvenile idiopathic arthritis.		142800	17158	2	2002	 We found that D6S265*5 could be a marker for an additional susceptibility gene in JIA which is distinct from A*02, adding to the risk conferred by DQ4;DR8.	Case:102 juvenile idiopathic arthritis patients:Norway;Control:270 healthy individuals										
125170	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Donaldson, P. T.  et al. 2002	12100571				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		142800	11741	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
125172	Y	dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	HLA-A	29963507	30085130		Lee, H. J.  et al. 2001	11737038				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Korean	Korea	CDC GDPinfo	3105	Hs.181244			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		142800	14139	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
125167		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-A	29963507	30085130		Crespi, C.  et al. 2002	12472657				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Majorcan		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2002 Oct;60(4):282-91	HLA polymorphism in a Majorcan population of Jewish descent: comparison with Majorca, Minorca, Ibiza(Balearic Islands) and other Jewish communities.		142800	11202	2	2002	The genetic diversity of the populations from Majorca and Minorca were similar and more related to the mainland Spanish population.	Cohort 103/589 random, healthy, unrelated individuals belonging to the ancient Majorcan Jewish community (n=103), and individuals from the Balearic population selected because of their typical Balearic - Majorca, Minorca or Ibiza - lineages (n=589) 										
125169		cirrhosis, biliary primary; diabetes, gestational	UNKNOWN	UNK		6	6p21.3	HLA-A	29963507	30085130		Zhen, Z. J.  et al. 2004	15631661				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Dec;12(6):783-7	[Analysis on HLA-E polymorphism in Guangdong Han population]		142800	11285	2	2004	In conclusion, the high conservative polymorphism of HLA-E suggests that it's biological characteristic is different from that of classical HLA class Ia molecules.	Cohort 150 unrelated healthy Chinese Han individuals Guangzhou , China 										
125164		scleroderma; jaundice	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Tsuchiya, K.  et al. 2001	11929590				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Japan	CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2001 Dec;58(6):395-401	Combination of HLA-A and HLA class II alleles controls the susceptibility to rheumatoid arthritis.		142800	11113	2	2001	Our results suggested the possibility that the susceptibility to RA is controlled by the interaction of HLA-A and DRBl genes or by that of HLA-A and DPBl genes in different patient subgroups.											
125165		Sjogren's syndrome	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Street, J.  et al. 2003	12648281				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			European journal of immunogenetics. 2003 Apr;30(2):129-31	Immunogenetics of the rare HLA-B allele B*4408.		142800	11127	2	2003	The phenotype and gene frequencies of B*4408 were 0.01235% and 0.00006, respectively.	Cohort 40,473 subjects residing in Wales 										
125166		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130			16386646				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Southwestern American Indian		CDC GDPinfo	3105	Hs.181244			Human immunology. 2005 Oct;66(10):1050-6	HLA Alleles and Risk of Cervical Intraepithelial Neoplasia Among Southwestern American Indian Women		142800	11168	2	2005												
125161		leukemia	CANCER	CAN		6	6p21.3	HLA-A	29963507	30085130		Lan, T.  et al. 2005	16215957				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):583-4	[Polymorphism of HLA-A,-B and DRB1 in Han population of Shanxi province]		142800	11072	2	2005	 The HLA-A,-B,-DRB1 distribution in Shanxi Han population shares some genetic characteristics with other Han populations in northern part of China, but it exhibits its own characteristics.											
125162		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130			16343061				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Korean		CDC GDPinfo	3105	Hs.181244			Liver international. 2005 Dec;25(6):1122-7	Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population		142800	11073	2	2005	 These results suggest that particular HLA alleles may have an influence on chronic HCV infection as a host genetic factor in the Korean population.											
125163		alveolitis, extrinsic allergic	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130			16362107				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):29	[HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).]		142800	11074	2	2005												
136893		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Warle, M. C.  et al. 2002	12089714				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		191160	28203	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
136894		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	6	6p21.3	TNF	31651328	31654091		Rocha, V.  et al. 2002	12393699				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		191160	28267	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
136895		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	6	6p21.3	TNF	31651328	31654091			16369102				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		191160	28268	2	2006			diet family history stress									
136896		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		6	6p21.3	TNF	31651328	31654091		Trejaut, J. A.  et al. 2004	15361128				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		191160	28269	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
136897		graft versus host disease	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Daly, A. K.  et al. 2002	12083951				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		191160	28270	2	2002	Review article											
136898		renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	6	6p21.3	TNF	31651328	31654091		Marshall, S. E.  et al. 2001	11233912				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		191160	28271	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
136899		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	TNF	31651328	31654091		Wang, C.  et al. 2004	15057902				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		191160	28324	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
136900		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	6	6p21.3	TNF	31651328	31654091		Chernajovsky, Y.  et al. 2002	12421093				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		191160	28325	2	2002	Review article											
136901		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Trajkov, D.  et al. 2005	16100774				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		191160	28326	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
136902		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Martin, A. M.  et al. 2003	14566095				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		191160	28327	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
136903		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cacabelos, R.   2002	12452480				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		191160	28367	2	2002	Review article											
136904		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091		Kornman, K. S.  et al. 2001	11887471				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		191160	28401	2	2001	Review Article											
136905		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Warpeha, K. M.  et al. 2003	12724690				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		191160	28402	2	2003	Review article											
136907		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	6	6p21.3	TNF	31651328	31654091		Helbig, K. J.  et al. 2003	12595908				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		191160	28456	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
136908		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		De Jong, M. M.  et al. 2002	12433710				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		191160	28493	2	2002	Review article											
136909		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Adams, G. T.  et al. 2003	12871600				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		191160	28542	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
136910		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	6	6p21.3	TNF	31651328	31654091		Navarro-Lopez, F.   2002	11975906				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		191160	28592	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
136911		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Barton, A.  et al. 2002	11981324				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		191160	28593	2	2002	Review article											
136912		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Watanabe, I.  et al. 2003	12732844				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese	Japan	CDC GDPinfo	7124	Hs.241570			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		191160	28646	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
136913		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6p21.3	TNF	31651328	31654091		Zee, R. Y.  et al. 2002	12082592				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		191160	28671	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
136914	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	17	17q22-q23	TNFAIP1	23682278	23698160		Ando, T.  et al. 2001	11702059			promoter	Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3			CDC GDPinfo	7126	Hs.76090			Psychiatric genetics. 2001 Sep;11(3):161-4	Analysis of tumor necrosis factor-alpha gene promoter polymorphisms in anorexia nervosa		191161	14374	2	2001	The results of our analysis of a cohort of AN sufferers control subjects provide no support for the hypothesis that -1031T/C, -863 C /A and -857C /T polymorphisms in the TNFalpha gene promoter region influence the susceptibility to AN.	Control:127 normal female controls subjects;Case:79 female Japanese anorexia nervosa sufferers										
136915	Y	Malaria infection	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	17	17q22-q23	TNFAIP1	23682278	23698160		Ubalee, R.  et al. 2001	11929592			promoter	Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3		Myanmar	CDC GDPinfo	7126	Hs.76090			Tissue antigens. 2001 Dec;58(6):407-10	Strong association of a tumor necrosis factor-alpha promoter allele with cerebral malaria in Myanmar.		191161	14378	2	2001	TNFP-D showed no significant linkage disequilibrium with any alleles of HLA-B or HLA-DRB1, suggesting that TNFP-D was primarily associated with cerebral malaria in Myanmar.	Cohort 243 Myanmar patients with falciparum malaria Myanmar 										
136916		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	17	17q22-q23	TNFAIP1	23682278	23698160		Mattey, D. L.  et al. 2001	11791643				Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3	Spanish	Spain	CDC GDPinfo	7126	Hs.76090			Clinical and experimental rheumatology. 2001 Nov-Dec;19(6):703-8	Influence of HLA-DRB1 and TNF microsatellite polymorphisms on the expression of extraarticular manifestations in rheumatoid arthritis patients from northwest Spain.		191161	23737	2	2001	 In an RA population from NW Spain the frequencies of HLA-DRB1 and TNF microsatellite alleles in patients with extra-articular manifestations were not significantly different to those without extraarticular disease, although there was a trend towards increased frequency of HLA-DRB1*0101 in patients with nodular disease. There was no evidence for an interaction between HLA-DRB1 and TNF alleles in relation to the expression of EAM.	Control:145 healthy controls;Case:181 clinic-based rheumatoid arthritis patients northwest Spain										
136917	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17q22-q23	TNFAIP1	23682278	23698160		Zuniga, J.  et al. 2001	11704801				Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3	Mexican	Mexico	CDC GDPinfo	7126	Hs.76090			Genes and immunity. 2001 Nov;2(7):363-6	Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with systemic lupus erythematosus (SLE).		191161	23738	2	2001	Our data suggest that the association between the TNF-alpha -238 polymorphism and SLE could play a major role in disease susceptibility.	Case:51 Mexican Mestizo SLE patients;Control:55 ethnically-matched healthy controls										
136919		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Hematuria|Proteinuria|Hypertension|Disease Progression	17	17q22-q23	TNFAIP1	23682278	23698160		Syrjanen, J.  et al. 2002	11849463				Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3			CDC GDPinfo	7126	Hs.76090			Kidney international. 2002 Mar;61(3):1079-85	Polymorphism of the cytokine genes and IgA nephropathy.		191161	26711	2	2002	 Carriage of IL1beta2 and IL1RN*2 together with non-carriage of TNF2 is associated with increased susceptibility, but not with a prognosis of IgAN.	Case:167 patients with IgA nephropathy;Control:400 healthy blood donor controls										
136920	N	osteoarthritis	METABOLIC	MET	Osteoarthritis	2	2q23.3	TNFAIP6	151922350	151944806		Nentwich, H. A.  et al. 2002	11854277				Tumor necrosis factor, alpha-induced protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007115.2	Caucasian		CDC GDPinfo	7130	Hs.437322			The Journal of biological chemistry. 2002 May;277(18):15354-62	A novel allelic variant of the human TSG-6 gene encoding an amino acid difference in the CUB module. Chromosomal localization, frequency analysis, modeling, and expression.		600410	19910	2	2002	the A(431) variant identified here is the major TSG-6 allele in Caucasians (with over 75% being A(431) homozygotes) but that this polymorphism is not a marker for OA susceptibility in the patients we have studied.	Case:400 osteoarthritis patients;Control:400:controls										
136922	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	C825T			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6592	1	2000												
136923	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	G1438A			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6593	1	2000												
136924	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	C1508T			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6594	1	2000												
136925	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	C1202A			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6595	1	2000												
136926	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	C-397A			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6596	1	2000												
136928		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis	8	8p21	TNFRSF10A	23104914	23138584		Kuraoka, K.  et al. 2005	16012731				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	CDC GDPinfo	8797	Hs.591834			Oncology reports. 2005 Aug;14(2):465-70	A single nucleotide polymorphism in the extracellular domain of TRAIL receptor DR4 at nucleotide 626 in gastric cancer patients in Japan.		603611	14381	2	2005												
136929	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p21	TNFRSF10A	23104914	23138584		Frank, B.  et al. 2005	15975957				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2			CDC GDPinfo	8797	Hs.591834			Carcinogenesis. 2005 Nov;26(11):1975-7	Association of death receptor 4 haplotype 626C-683C with an increased breast cancer risk.		603611	19911	2	2005												
136930	Y	leukemia, chronic lymphocytic	CANCER	CAN	Neoplasms	8	8p21	TNFRSF10A	23104914	23138584		Wolf, S.  et al. 2005	16217763				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2			CDC GDPinfo	8797	Hs.591834			International journal of cancer. Journal international du cancer. 2006 Apr;118(7):1831-5	Ala228 variant of trail receptor 1 affecting the ligand binding site is associated with chronic lymphocytic leukemia, mantle cell lymphoma, prostate cancer, head and neck squamous cell carcinoma and bladder cancer.		603611	19912	2	2005												
136932	N	Asthma	IMMUNE	IMM	Asthma	8	8p22-p21	TNFRSF10B	22933592	22982637	n	Unoki M 2000	10830912	C-1562T			Tumor necrosis factor receptor superfamily, member 10b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003842.3	Japanese	Japan	KCB	8795	Hs.521456			Human genetics. 2000 Apr;106(4):440-6			603612	6589	1	2000												
136933	N	Asthma	IMMUNE	IMM	Asthma	8	8p22-p21	TNFRSF10B	22933592	22982637	n	Unoki M 2000	10830912	C200T			Tumor necrosis factor receptor superfamily, member 10b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003842.3	Japanese	Japan	KCB	8795	Hs.521456			Human genetics. 2000 Apr;106(4):440-6			603612	6590	1	2000												
136934	Y	bone density	METABOLIC	MET		18	18q22.1	TNFRSF11A	58143527	58204484		Hsu, Y. H.  et al. 2005	16249885				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2			CDC GDPinfo	8792	Hs.204044			Human genetics. 2006 Jan;118(5):568-77	Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.		603499	19913	2	2005												
136935		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	18	18q22.1	TNFRSF11A	58143527	58204484		Choi, J. Y.  et al. 2005	16151677				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Korean	Korea	CDC GDPinfo	8792	Hs.204044			Calcified tissue international. 2005 Sep;77(3):152-9	Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women.		603499	23739	2	2005												
136936		osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Ohmori H et al. 2002	12181640				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			KGB	4982	Hs.81791			Journal of human genetics. 2002 ;47(8):400-6	Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.		602643	4811	1	2002	Although, no evidence of significant linkage between OPG and osteoporosis was found, a possible association of one SNP, located in the promoter region of the gene, was identified. A haplotype analysis with the six SNPs revealed that four major haplotypes account for 71% of the alleles in the Japanese population.	Cohort 394 postmenopausal women Akita, Honshu, Japan										
136937	Y	osteoporotic fractures	OTHER	OTH	Osteoporosis|Spinal Fractures	8	8q24	TNFRSF11B	120004976	120033492		Langdahl BL et al. 2002	12096838				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			KGB	4982	Hs.81791			Journal of bone and mineral research. 2002 Jul;17(7):1245-55	Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures.		602643	4812	1	2002	In conclusion, we have examined the human OPG gene for polymorphisms and found 12. The rare alleles of the A163-G and T245-G were significantly more common among patients with vertebral fractures.	Case:268 patients with osteoporosis;Control:327 normal controls										
136938	Y	vascular function; vascular morphology	CARDIOVASCULAR	CARD		8	8q24	TNFRSF11B	120004976	120033492		Brandstrom, H.  et al. 2002	12054556			promoter	Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Biochemical and biophysical research communications. 2002 Apr;293(1):13-7	A single nucleotide polymorphism in the promoter region of the human gene for osteoprotegerin is related to vascular morphology and function.		602643	14383	2	2002	Thus, our results show that the polymorphism in the promoter region of OPG is associated with both vascular morphology and function in apparently healthy subjects.	Cohort 59 healthy subjects 										
136939	Y	osteoporosis	OTHER	OTH	Osteoporosis|Spinal Fractures	8	8q24	TNFRSF11B	120004976	120033492		Langdahl, B. L.  et al. 2002	12096838				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Journal of bone and mineral research. 2002 Jul;17(7):1245-55	Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures.		602643	14384	2	2002	In conclusion, we have examined the human OPG gene for polymorphisms and found 12. The rare alleles of the A163-G and T245-G were significantly more common among patients with vertebral fractures.	Case:268 patients with osteoporosis;Control:327 normal controls										
136940	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous	8	8q24	TNFRSF11B	120004976	120033492		Brandstrom, H.  et al. 2003	14508625				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Swedish	Sweden	CDC GDPinfo	4982	Hs.81791			Calcified tissue international. 2004 Jan;74(1):18-24	Single nucleotide polymorphisms in the human gene for osteoprotegerin are not related to bone mineral density or fracture in elderly women.		602643	14385	2	2003	Thus, our results show that polymorphisms in the OPG gene, one of which has previously been found to be associated with cardiovascular morphology and function, are not associated with bone mineral density in elderly Swedish women.	Cohort 59 healthy individuals Sweden 										
136941		bone density	METABOLIC	MET		8	8q24	TNFRSF11B	120004976	120033492		Yamada, Y.  et al. 2003	14680982				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Japanese		CDC GDPinfo	4982	Hs.81791			Molecular genetics and metabolism. 2003 Nov;80(3):344-9	Association of polymorphisms of the osteoprotegerin gene with bone mineral density in Japanese women but not men.		602643	14386	2	2003	The present results implicate the osteoprotegerin gene as a susceptibility locus for reduced BMD in Japanese women.	Cohort 1095/1125d women (n=1095) and men (n=1125) from a Japanese population-based prospective cohort study with randomly recruited subjects 										
136942	Y	bone density; fractures	METABOLIC	MET	Fractures, Bone	8	8q24	TNFRSF11B	120004976	120033492		JOrgensen, H. L.  et al. 2004	14999524	A163G		promoter	Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2		Denmark	CDC GDPinfo	4982	Hs.81791			Journal of bone and mineral metabolism. 2004 ;22(2):132-8	Serum osteoprotegerin (OPG) and the A163G polymorphism in the OPG promoter region are related to peripheral measures of bone mass and fracture odds ratios.		602643	14387	2	2004	A significant negative association between S-OPG with peripheral measures of bone mass and with increased fracture odds ratios was found. Furthermore, the A163G mutation in the OPG promoter had a significant influence on bone mass and fracture status independently of S-OPG level.	Control:206 age-matched controls;Case:66/41 women with lower forearm fracture (n=66) and women with hip fracture (n=41)										
136943		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Cheng, Q.  et al. 2004	15059506				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Zhonghua yi xue za zhi. 2004 Feb;84(4):274-7	[Effect of osteoprotegerin gene polymorphism on bone mass in postmenopausal women]		602643	14388	2	2004	 OPG polymorphism may have an effect on the BMD of postmenopausal women aged less than 65. It is possibly that the role of OPG gene mainly on the obtaining of peak BMD in women.	Cohort 259 postmenopausal women of Han race Shanghai, China 										
136944	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	8	8q24	TNFRSF11B	120004976	120033492		Brandstrom, H.  et al. 2004	15223723			promoter	Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Swedish	Sweden	CDC GDPinfo	4982	Hs.81791			Blood pressure. 2004 ;13(3):152-7	A single nucleotide polymorphism in the promoter region of the osteoprotegerin gene is related to intima-media thickness of the carotid artery in hypertensive patients. The Swedish irbesartan left ventricular hypertrophy investigation vs atenolol (SILVHIA		602643	14389	2	2004	The present study confirms our previous finding and shows that polymorphism in the promoter region of OPG is associated with vascular morphology in hypertensive subjects.	Case:100 patients with hypertension and left ventricular:hypertrophy;Control:75 healtthy normotensive controls										
136945		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	8	8q24	TNFRSF11B	120004976	120033492		Soufi, M.  et al. 2004	15292302				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Caucasian		CDC GDPinfo	4982	Hs.81791			The Journal of clinical endocrinology and metabolism. 2004 Aug;89(8):3764-8	Osteoprotegerin gene polymorphisms in men with coronary artery disease.		602643	14390	2	2004	In summary, linkage of variations of the OPG gene at positions 950 and 1181 may confer increased risk of CAD in Caucasian men.	Cohort 468 men who had absence of coronary artery disease or single-, double-, or triple-vessel disease on angiography 										
136946	Y	bone density	METABOLIC	MET	Bone Diseases, Metabolic|Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Zhao, H. Y.  et al. 2005	15782282	Lys3Asn			Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Chinese		CDC GDPinfo	4982	Hs.81791			Osteoporosis international. 2005 Dec;16(12):1519-24	The influence of Lys3Asn polymorphism in the osteoprotegerin gene on bone mineral density in Chinese postmenopausal women.		602643	14391	2	2005	The Lys3Asn polymorphism in the OPG gene is associated with L(2-4) BMD in postmenopausal women. The Lys-allele is associated with lower BMD and an increased risk for osteoporosis.	Cohort 205 postmenopausal women 										
136947	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	8	8q24	TNFRSF11B	120004976	120033492		Arko, B.  et al. 2005	15978970				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Maturitas. 2005 Jul;51(3):270-9	Association of the osteoprotegerin gene polymorphisms with bone mineral density in postmenopausal women.		602643	14392	2	2005	 By our approach we detected eight polymorphisms in the OPG gene. According to our analysis polymorphism 1181G>C is associated with BMD and could therefore be considered as an element of genetic susceptibility to osteoporosis.											
136948	N	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Ohmori, H.  et al. 2002	12181640				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Japanese		CDC GDPinfo	4982	Hs.81791			Journal of human genetics. 2002 ;47(8):400-6	Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis		602643	19914	2	2002	Although, no evidence of significant linkage between OPG and osteoporosis was found, a possible association of one SNP, located in the promoter region of the gene, was identified. A haplotype analysis with the six SNPs revealed that four major haplotypes account for 71% of the alleles in the Japanese population.	Cohort 394 postmenopausal women Akita, Honshu, Japan 										
136949		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Arko, B.  et al. 2002	12213850			promoter	Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			The Journal of clinical endocrinology and metabolism. 2002 Sep;87(9):4080-4	Sequence variations in the osteoprotegerin gene promoter in patients with postmenopausal osteoporosis.		602643	19915	2	2002	Our results suggest that 209 G-->A and 245 T-->G polymorphisms in the OPG gene promoter may contribute to the genetic regulation of BMD.	Cohort 103 osteoporotic postmenopausal women 										
136950	Y	Paget's disease	OTHER	OTH	Osteitis Deformans|Genetic Predisposition to Disease	8	8q24	TNFRSF11B	120004976	120033492		Daroszewska, A.  et al. 2004	15312251				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Journal of bone and mineral research. 2004 Sep;19(9):1506-11	Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.		602643	19916	2	2004	 The G1181 allele was significantly over-represented in PDB patients (chi(2) = 5.7, df = 1, p = 0.017, adjusted alpha = 0.024), equivalent to an odds ratio for PDB of 1.55 (95% CI: 1.11-2.16). The distribution of TNFRSF11B haplotypes significantly differed in sporadic PDB cases and controls (chi(2) = 30.2, df = 9, p < 0.001) because of over-representation of haplotypes containing the G1181 allele in cases. The family study showed that the most common haplotype containing the G1181 allele was transmitted more frequently than expected to 140 individuals with familial PDB (chi(2) = 7.35, df = 1, p < 0.01), and the transmission disequilibrium was even more pronounced in a subgroup of 78 familial PDB patients who did not carry mutations of the SQSTM1 gene (chi(2) = 8.44, df = 1, p < 0.005). We conclude that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic PDB and familial PDB that is not caused by SQSTM1 mutations.	Control:10:controls;Case:20 Paget's disease of bone patients										
136951		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492			16343827				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Maturitas. 2005	TNFRSF11B gene variants and bone mineral density in postmenopausal women in Malta		602643	19917	2	2005	 These results indicate the possible role of TNFRSF11B gene variants in postmenopausal bone loss in women in Malta.											
136953		bone density	METABOLIC	MET		8	8q24	TNFRSF11B	120004976	120033492		Hsu, Y. H.  et al. 2005	16249885				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDPinfo	4982	Hs.81791			Human genetics. 2006 Jan;118(5):568-77	Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.		602643	23741	2	2005												
136954		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	8	8q24	TNFRSF11B	120004976	120033492		Choi, J. Y.  et al. 2005	16151677				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Korean	Korea	CDC GDPinfo	4982	Hs.81791			Calcified tissue international. 2005 Sep;77(3):152-9	Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women.		602643	25704	2	2005												
136955		common variable immunodeficiency	IMMUNE	IMM	Common Variable Immunodeficiency	22	22q13.1-q13.31	TNFRSF13C	40650981	40652728		Losi, C. G.  et al. 2005	16160919				Tumor necrosis factor receptor superfamily, member 13C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052945.2			CDC GDPinfo	115650	Hs.344088			Journal of clinical immunology. 2005 Sep;25(5):496-502	Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency.		606269	19918	2	2005												
136956	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	16	16p13.1	TNFRSF17	11966464	11969426	n	Kawasaki A et al. 2001	11528522				Tumor necrosis factor receptor superfamily, member 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001192.2	Japanese		Tsuchiya N	608	Hs.2556			Genes and immunity. 2001 Aug;2(5):276-9			109545	967	1	2001		Case:160; Control:224										
136957	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	16	16p13.1	TNFRSF17	11966464	11969426	n	Kawasaki A et al. 2001	11528522				Tumor necrosis factor receptor superfamily, member 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001192.2	Japanese		Tsuchiya N	608	Hs.2556			Genes and immunity. 2001 Aug;2(5):276-9			109545	968	1	2001		Case:205; Control:224										
136959	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12p13.2	TNFRSF1A	6308183	6321522	n	Pras E 2001	11598334	TNFR1 located in exon 1 and intron 6			Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Ashkenazi Jews	Israel	KGB	7132	Hs.279594			European neurology. 2001 ;46(3):153-5	Lack of Evidence for an Association between Two Genetic Polymorphisms in the Tumor Necrosis Factor Receptor 1 Gene and Multiple Sclerosis in Ashkenazi Jews		191190	6114	1	2001	These findings suggest that genetic variants in TNFR1 do not play a significant role in Ashkenazi Jews.	Control:83 healthy Ashkenazi controls;Case:94 Jewish Ashkenazi MS patients										
136960	Y	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Nishimura M et al. 2003	12559634				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Japanese	Japan	Y Wang	7132	Hs.279594			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphismsin Japanese patients with type 1 diabetes.		191190	6115	1	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
136961		periodic syndrome	OTHER	OTH	Familial Mediterranean Fever	12	12p13.2	TNFRSF1A	6308183	6321522		Aganna E 2003	13130484				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			KGB	7132	Hs.279594			Arthritis and rheumatism. 2003 Sep;48(9):2632-44	Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.		191190	6116	1	2003	 The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A mutation indicates that the genetic basis among patients with TRAPS-like features is heterogeneous. TNFRSF1A mutations are not commonly associated with nonfamilial recurrent fevers of unknown etiology.											
136962	Y	diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522	0.0047	Vendrell J 2003	12818408	Single nucleotide polymorphism G/A at -308		5'promoter	Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Spanish / Caucassian		Y Wang	7132	Hs.279594	Complications		Atherosclerosis. 2003 Apr;167(2):257-64	A polymorphism in the promoter of the tumor necrosis factor-alpha gene (-308) is associated with coronary heart disease in type 2 diabetic patients.		191190	6117	1	2003	 These results suggest that -308 TNF-alpha gene polymorphism may contribute to CHD risk in patients with type 2 diabetes and it could constitute an useful predictive marker for CHD in type 2 diabetic women.	Case:341; Control:207										
136963	Y	Rheumatoid Arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522	0.008	Dieude P et al. 2004	14872483	Single nucleotide polymorphism P12P located in exon 1	no	other	Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	French Caucasian population	France	Philippe Dieud?	7132	Hs.279594			Arthritis and rheumatism. 2004 Feb;50(2):413-9	A TNFR1 genotype with a protective role in familial rheumatoid arthritis.		191190	6118	1	2004	 We found evidence for an association between RA and a TNFR1 protective genotype, restricted to familial RA. Distribution of the TNFR2 196 R/R and TNFR1 +36 A/A genotypes in familial RA could suggest an interaction between TNFR1 and TNFR2 in the genetic susceptibility for RA.	Cohort 86 rheumatoid arthritis index patients from families with at least 2 siblings with rheumatoid arthritis		TNFR2	196 R/R	TNFR1	+36 A/A			Y		Rhuematoid Arthritis
136964	Y	Tumor necrosis factor receptor-associated periodic syndrome	IMMUNE	IMM	Fever of Unknown Origin	12	12p13.2	TNFRSF1A	6308183	6321522		Aganna E et al. 2001	11175303	R92P		coding sequence	tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065		Netherlands	KGB	7132	Hs.279594			European journal of human genetics. 2001 Jan;9(1):	Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.		191190	6119	1	2001	As this R92P mutation is present in two unaffected carriers it appears to be less penetrant than previously reported TNFRSF1A mutations involving cysteine residues in the extracellular domains.											
136965	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12p13.2	TNFRSF1A	6308183	6321522		Pras, E.  et al. 2001	11598334				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Israel	CDC GDPinfo	7132	Hs.279594			European neurology. 2001 ;46(3):153-5	Lack of Evidence for an Association between Two Genetic Polymorphisms in the Tumor Necrosis Factor Receptor 1 Gene and Multiple Sclerosis in Ashkenazi Jews		191190	14394	2	2001	These findings suggest that genetic variants in TNFR1 do not play a significant role in Ashkenazi Jews.	Control:83 healthy Ashkenazi controls;Case:94 Jewish Ashkenazi MS patients										
136966	Y	myocardial infarct; carotid intima-media thickness	CARDIOVASCULAR	CARD	Brain Infarction|Myocardial Infarction|Arteriosclerosis|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Poirier, O.  et al. 2003	14694358	R92Q			Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			European journal of human genetics. 2004 Mar;12(3):213-9	Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness - The ECTIM, AXA, EVA and GENIC Studies		191190	14395	2	2003	Overall, these results may suggest that carriers of the 92Q allele may be at increased risk of atherosclerosis.	Cohort 733/1092/912 in subjects from the AXA study (n=733), the EVA study (n=1092) and the GENIC study (n=912) 										
136967		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Anemia, Sickle Cell|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Tchernitchko, D.  et al. 2004	15586174	P46L			Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	sub-Saharan African		CDC GDPinfo	7132	Hs.279594			European journal of human genetics. 2005 Apr;13(4):513-5	Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.		191190	14396	2	2004	We propose that the P46L high frequency in West African populations could be explained by some biological advantage conferred to carriers.	Case:145 patients with sickle cell anemia;Control:349 healthy controls										
136968	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.2	TNFRSF1A	6308183	6321522		Barton, A.  et al. 2001	11212177				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Arthritis and rheumatism. 2001 Jan;44(1):61-5	Association between rheumatoid arthritis and polymorphism of tumor necrosis factor receptor II, but not tumor necrosis factor receptor I, in Caucasians		191190	14399	2	2001	 The results of this study provide evidence of association between an SNP in the TNFRII gene and RA, the strongest association being observed in patients with a family history. No evidence of association between RA and TNFRI was demonstrated.	Control:143 healthy Caucasian controls;Case:291 Unrelated Caucasian RA patients										
136969		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.2	TNFRSF1A	6308183	6321522		Bridges, S. L. = Jr et al. 2002	12209507				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	African American		CDC GDPinfo	7132	Hs.279594			Arthritis and rheumatism. 2002 Aug;46(8):2045-50	Single-nucleotide polymorphisms in tumor necrosis factor receptor genes: definition of novelhaplotypes and racial/ethnic differences.		191190	14405	2	2002	 Although we observed no associations between known TNFR SNPs or haplotypes and RA, significant racial differences were observed at both loci. Comparison of these data with other published frequencies of TNFRSF1A and TNFRSF1B genotypes according to race suggests that the distribution in African American, Caucasian, and Asian populations differs significantly. These striking racial/ethnic differences in TNFR SNP frequencies may influence the likelihood of familial RA, severe disease, or response to TNF inhibitors and may have important evolutionary implications.	Case:108 African Americans with rheumatoid arthritis;Control:62/59 healthy African Americans (n=62) and Caucasians:(n=59)										
136970		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Chronic Disease|Disease Susceptibility	12	12p13.2	TNFRSF1A	6308183	6321522		Bayley, J. P.  et al. 2003	12730509				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Dutch	Netherlands	CDC GDPinfo	7132	Hs.279594			Rheumatology (Oxford, England). 2003 Aug;42(8):969-71	Association of polymorphisms of the tumour necrosis factor receptors I and II and rheumatoid arthritis.		191190	14409	2	2003	 These TNF-RI and TNF-RII polymorphisms were not found to be associated with susceptibility to or severity of RA in the Dutch population.	Control healthy controls;Case:319/90 consecutive rheumatoid arthritis patients (n=319), and a cohort of female rheumatoid arthritis patients with detailed 12-yr follow-up (n=90) the Netherlands										
136971	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.2	TNFRSF1A	6308183	6321522		Glossop, J. R.  et al. 2003	12858434				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Caucasian		CDC GDPinfo	7132	Hs.279594			The Journal of rheumatology. 2003 Jul;30(7):1406-9	No association of polymorphisms in the tumor necrosis factor receptor I and receptor II genes with disease severity in rheumatoid arthritis.		191190	14411	2	2003	 Our data suggest that neither the +36 TNFRSF1A SNP nor the +196 TNFRSF1B SNP is associated with RA severity in a population of Caucasian patients with RA.	Cohort 181 Caucasian patients with rheumatoid arthritis 										
136972	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Pierik, M.  et al. 2004	15274667				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Alimentary pharmacology & therapeutics. 2004 Aug;20(3):303-10	Tumour necrosis factor-alpha receptor 1 and 2 polymorphisms in inflammatory bowel disease and their association with response to infliximab.		191190	14416	2	2004	 The TNFR2 587G allele was more frequent in ulcerative colitis. Both single nucleotide polymorphisms were negatively associated with smoking in Crohn's disease. A relation between TNFR1A36G and pancolitis was found in ulcerative colitis. There was no clear effect of the polymorphisms on infliximab response although, the TNFR1 minor was associated with a lower response to infliximab.	Control:controls;Case:344/152 Crohn's disease (n=344) and ulcerative colitis:(n=152) patients										
136973	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	12	12p13.2	TNFRSF1A	6308183	6321522		Glossop, J. R.  et al. 2005	16277675				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Arthritis research & therapy. 2005 ;7(6):R1227-34	Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.		191190	14424	2	2005												
136974		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	12	12p13.2	TNFRSF1A	6308183	6321522		Horiuchi, T.  et al. 2004	15492850				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Japanese	Japan	CDC GDPinfo	7132	Hs.279594			International journal of molecular medicine. 2004 Nov;14(5):813-8	Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.		191190	19922	2	2004	A larger scale of study will clarify whether these two mutations, T61I and R104Q, are associated with chronic inflammatory disorders, such as SLE, or not.	Cohort 100/100 patients with systemic lupJapanese systemic erythematosus (n=100) andrheumatoid arthritis (n=100) patients 										
136975	Y	thrombosis, deep vein; Behcet's disease	CARDIOVASCULAR	CARD	Behcet Syndrome|Venous Thrombosis	12	12p13.2	TNFRSF1A	6308183	6321522		Amoura, Z.  et al. 2005	15692984				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Arthritis and rheumatism. 2005 Feb;52(2):608-11	Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Bechet's disease.		191190	19923	2	2005	 The R92Q mutation in patients with Beh??'s disease is associated with an increased risk of extracranial venous thrombosis. This new finding may help in understanding the complex prothrombotic state in patients with Beh??'s disease.	Control:controls;Case:74 unrelated European patients with Behcet's disease										
136976		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression|Disease Susceptibility	12	12p13.2	TNFRSF1A	6308183	6321522		Diop, G.  et al. 2005	16153798				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		France	CDC GDPinfo	7132	Hs.279594			Biomedicine & pharmacotherapy. 2005 Sep;59(8):474-80	Genomic approach of AIDS pathogenesis: exhaustivegenotyping of the TNFR1 gene in a French AIDS cohort.		191190	19924	2	2005												
136977		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Dieude, P.  et al. 2004	14872483				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		France	CDC GDPinfo	7132	Hs.279594			Arthritis and rheumatism. 2004 Feb;50(2):413-9	A TNFR1 genotype with a protective role in familial rheumatoid arthritis		191190	19933	2	2004	 We found evidence for an association between RA and a TNFR1 protective genotype, restricted to familial RA. Distribution of the TNFR2 196 R/R and TNFR1 +36 A/A genotypes in familial RA could suggest an interaction between TNFR1 and TNFR2 in the genetic susceptibility for RA.	Cohort 86 rheumatoid arthritis index patients from families with at least 2 siblings with rheumatoid arthritis 		TNFR2	196 R/R	TNFR1	+36 A/A			Y		Rhuematoid Arthritis
136978		diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Vendrell, J.  et al. 2005	15787661				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Diabetic medicine. 2005 Apr;22(4):387-92	Tumour necrosis factor receptors (TNFRs) in Type 2 diabetes. Analysis of soluble plasma fractions and genetic variations of TNFR2 gene in a case-control study.		191190	19935	2	2005	 Our findings suggest that chronic TNF activation may have some pathogenic role in diabetic nephropathy in DM2 patients. Genetic variations in exon 6/intron 4 of the TNFR2 gene do not predispose to a major risk for DM2 or its microvascular complications.	Control:173 healthy subjects;Case:345 type 2 diabetics										
136979		anemia, iron deficiency; anemia of chronic disease	HEMATOLOGICAL	HEM	Arthritis, Rheumatoid|Anemia|Anemia, Iron-Deficiency|Disease Progression|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Glossop, J. R.  et al. 2005	16142859				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			The Journal of rheumatology. 2005 Sep;32(9):1673-8	Anemia in rheumatoid arthritis: association withpolymorphism in the tumor necrosis factor receptor I and II genes.		191190	19937	2	2005	 Our data suggest that polymorphisms within the TNFRSF1A and TNFRSF1B genes are associated with IDA and/or ACD in patients with RA.											
136980	Y	Crohn's disease	IMMUNE	IMM	Colitis|Ileitis|Crohn Disease|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Waschke, K. A.  et al. 2005	15842589				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Caucasian		CDC GDPinfo	7132	Hs.279594			The American journal of gastroenterology. 2005 May;100(5):1126-33	Tumor necrosis factor receptor gene polymorphisms in Crohn's disease: association with clinicalphenotypes.		191190	23742	2	2005	 These data constitute the first report of an association of TNFRSF1A and TNFRSF1B polymorphisms with CD in a Caucasian population and address the role of TNFR mutations in determining clinical heterogeneity in CD.	Control:106:controls;Case:205 consecutively identified and unrelated patients with Crohn's disease										
136981		amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis, Familial	12	12p13.2	TNFRSF1A	6308183	6321522		Dode, C.  et al. 2002	12105243				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Europe	CDC GDPinfo	7132	Hs.279594			Nephrology, dialysis, transplantation. 2002 Jul;17(7):1212-7	Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.		191190	23743	2	2002	 In this series we observed that FMF is the main cause of AA amyloidosis in Sephardic Jews and Turks. MEFV and TNFRSF1A mutations were found in only 6 of 14 Arab patients from the Maghreb. We found three families (one Caucasian and two from Maghreb) with AA amyloidosis without MEFV or TNFRSF1A mutations, suggesting that other genetic cause(s) exist(s). The characterization of mutations in MEFV and TNFRSF1A is important for the therapeutic behaviour of AA amyloidosis associated with inherited recurrent fever.	Cohort 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks 										
136982	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Allen, R. A.  et al. 2001	11737221				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			European journal of clinical investigation. 2001 Oct;31(10):843-51	Polymorphisms in the TNF-alpha and TNF-receptor genes in patients with coronary artery disease		191190	23744	2	2001	 Polymorphisms in the TNF-alpha promoter region and TNF-receptor genes are not associated with the development of CAD.	Case:180 patients with angiographically proven single vessel (n = 58) and multivessel (n = 122) coronary artery:disease;Control:250 volunteers without clinical evidence of coronary artery disease										
136983		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Sashio, H.  et al. 2002	11904678				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Immunogenetics. 2002 Mar;53(12):1020-7	Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively.		191190	23745	2	2002	This study suggests that one of the genes responsible for UC may be the TNF gene, or an adjacent gene, and that TNFRSF1B gene polymorphisms contribute greatly to the increased onset risk of CD and to the disease behavior.	Case:106 patients with ulcerative colitis;Control:111 unrelated healthy controls;Case:124 patients with Crohn's disease										
136984		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Zeggini, E.  et al. 2002	11961180				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Great Britain	CDC GDPinfo	7132	Hs.279594			Rheumatology (Oxford, England). 2002 Apr;41(4):462-5	Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis		191190	23746	2	2002	 This TNFRII exon 6 SNP does not seem to be associated with susceptibility to JIA.	Control:261 healthy individuals;Case:435 patients with juvenile idiopathic arthritis										
136985	N	narcolepsy	IMMUNE	IMM	Narcolepsy	12	12p13.2	TNFRSF1A	6308183	6321522		Wieczorek, S.  et al. 2003	12601524				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Germany	CDC GDPinfo	7132	Hs.279594			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):87-90	Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in Germanpatients.		191190	23747	2	2003	In summary, our data do not provide evidence that TNFR genes are etiologically important for narcoleptic symptoms in German patients. In addition, our resutls provide further evidence for genetic heterogeneity among narcolepsy populations of different ethnic origin.	Case:100/93 German Caucasian unrelated patients with narcolepsy tested for TNFRSF1A (n=100) and for TNFRSF1B (n=93):Germany;Control:93/94 controls tested for TNFRSF1A (n=93) and for:TNFRSF1B (n=94)										
136986	N	sepsis	INFECTION	INF	Sepsis|Shock, Septic|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Gordon, A. C.  et al. 2004	15526005				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Australia|England	CDC GDPinfo	7132	Hs.279594			Genes and immunity. 2004 Dec;5(8):631-40	TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study.		191190	23748	2	2004	In this study, there were no significant associations between the selected candidate TNF or TNF receptor polymorphisms, or their haplotypes, and susceptibility to sepsis, illness severity or outcome. The influence of polymorphisms of the TNF locus on susceptibility to, and outcome from sepsis remains uncertain.	Cohort 213 Caucasian patients recruited from eight intensive care units UK and Australia 										
136987		Crohn's disease	IMMUNE	IMM	Crohn Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Mascheretti, S.  et al. 2002	12049175				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			The pharmacogenomics journal. 2002 ;2(2):127-36	Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab.		191190	23749	2	2002	The discrepancy between the two cohorts observed for the TNF-R-II exon 6 and exon 2 polymorphism may point to a weak effect on treatment response but also serves to illustrate the need for a sequential exploratory/confirmatory design in pharmacogenetic studies.	Case refractory Crohn's disease patients;Control healthy controls:Cohort:90/444 an exploratory cohort (n=90) and a confirmatory cohort (n=444) from independent, prospective clinical trials	infliximab									
136988		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	12	12p13.2	TNFRSF1A	6308183	6321522		Nicklas, B. J.  et al. 2005	16282562				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Oct;60(10):1292-8	Physical function and its response to exercise:associations with cytokine gene variation in older adults with knee osteoarthritis.		191190	23750	2	2005	 Walking distance and stair climbing speed are partly influenced by genetic variation in the IL-6 and TNFalpha genes in older individuals with knee osteoarthritis.		physical activity									
136989	Y	amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Aganna, E.  et al. 2004	15071491				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Genes and immunity. 2004 Jun;5(4):289-93	Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis		191190	25705	2	2004	Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.	Control:130 healthy controls;Case:61/31 juvenile idiopathic arthritis patients with (n=61) and without (n=31) amyloidosis;Case:67/34 rheumatoid arthritis patients with amyloidosis (n=67) and without amyloidosis (n=34)										
136990	Y	lymphoma	CANCER	CAN	Lymphoma|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone	12	12p13.2	TNFRSF1A	6308183	6321522		Wu, M. S.  et al. 2004	15146559				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			International journal of cancer. Journal international du cancer. 2004 Jul;110(5):695-700	Promoter polymorphisms of tumor necrosis factor-alpha are associated with risk of gastric mucosa-associated lymphoid tissue lymphoma.		191190	25706	2	2004	We concluded that TNF-alpha -857 T itself or a neighboring gene may modify the risk of maltoma. The differences in genetic background as well as divergent clinicopathologic features between GAC and maltoma support the notion that fundamental mechanistic differences exist in these 2 well-defined H. pylori-related malignancies.	Control:210 unrelated healthy controls;Case:70/204 patients with maltoma (n=70) and patients with noncardia GAC (n=204)										
136991		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Kruger, R.  et al. 2000	11072751				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Germany	CDC GDPinfo	7132	Hs.279594			J Neural Transm. 2000 ;107(5):553-62	Genetic analysis of immunomodulating factors in sporadic Parkinson's disease		191190	25707	2	2000	suggested involvement of immunomodulating factors in the pathogenesis of sporadic PD as revealed by a molecular genetic approach.	Control:183 age and sex matched healthy controls:Germany;Case:264 sporadic PD patients:Germany										
136992		cirrhosis	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis	12	12p13.2	TNFRSF1A	6308183	6321522		Yee, L. J.  et al. 2000	11196686				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Genes and immunity. 2000 Aug;1(6):386-90	Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection		191190	25708	2	2000	Polymorphisms in the TNF alpha promoter appear to be associated with variability in the histological severity of chronic hepatitis C infection.	Control:114 HCV-infected patients histopathologically free of:cirrhosis;Case:30 Caucasians with cirrhosis due to chronic HCV:infection	hepatitis C									
136993	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Ferrarotti, I.  et al. 2003	12661999				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			The European respiratory journal. 2003 Mar;21(3):444-9	Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.		191190	25709	2	2003	No significant deviations were found concerning the four polymorphisms studied between the two populations. The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease.	Case:63 chronic obstructive pulmonary disease patients;Control:86 healthy smokers										
136994		uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Kuo, N. W.  et al. 2005	15851552				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Investigative ophthalmology & visual science. 2005 May;46(5):1565-71	TNF-857T, a genetic risk marker for acute anterior uveitis.		191190	25710	2	2005	 A significant difference in the frequency of TNF-857T allele was found in patients with IAU. There was a trend toward the development of inflammation-related complications in HLA-B27(+) patients with IAU who were carriers of TNFRSF1A-201T or TNFRSF1A-1135T alleles. Genetic variations in these proinflammatory mediators and their receptors appear to influence the susceptibility and severity of the inflammatory response within the eyes of patients during the development of IAU.	Control:controls;Case:98 white patients with acute anterior uveitis:UK										
136995		Familial Mediterranean Fever; hyper-IgD syndrome	IMMUNE	IMM	Autoimmune Diseases|Familial Mediterranean Fever|Syndrome|Inflammation	12	12p13.2	TNFRSF1A	6308183	6321522		Simon, A.  et al. 2005	16234278				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Rheumatology (Oxford, England). 2005	Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.		191190	26713	2	2005	 Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.											
136996		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Nishimura, M.  et al. 2003	12559634				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Japanese	Japan	CDC GDPinfo	7132	Hs.279594			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes.		191190	26714	2	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
136997		myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Nishimura, M.  et al. 2000	11163081				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		191190	26715	2	2000	The results suggest that the TNF/LT-alpha gene region within the HLA class III of chromosome 6 and the TNFR-2 gene region located on chromosome 1p36 might contribute to susceptibility to HAM, and that aberrant expression or function of these cytokines and the receptor could be involved in the development of HAM.	Control:50/112 asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112);Case:51/48 Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell:leukemia/lymphoma (ATL) (n = 48)	human T lymphotropic virus									
136998			NORMALVARIATION	NV		12	12p13.2	TNFRSF1A	6308183	6321522		Padyukov, L.  et al. 2001	11528523				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Chinese/Swedish Caucasians		CDC GDPinfo	7132	Hs.279594			Genes and immunity. 2001 Aug;2(5):280-3	Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians.		191190	26716	2	2001	The noted differences in the frequency of functionally important alleles of cytokine genes may have consequences for the mode of appearance and outcome of certain diseases in individuals of different ethnicity.	Cohort Caucasians individuals western Sweden Cohort Chinese individuals Hong Kong 										
136999		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Criswell, L. A.  et al. 2004	15457442				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		191190	27657	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
137000		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	12	12p13.2	TNFRSF1A	6308183	6321522		Nishimura, M.  et al. 2003	12651071				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		191190	28016	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
137001		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Miterski, B.  et al. 2004	15018649				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Germany	CDC GDPinfo	7132	Hs.279594			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		191190	28017	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
137002		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	12	12p13.2	TNFRSF1A	6308183	6321522		Tsao, B. P.   2002	12126589				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		191190	28124	2	2002	Review article											
137003		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Barton, A.  et al. 2002	11981324				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		191190	28605	2	2002	Review article											
137004		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Saito, T.  et al. 2004	15063762				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2		Japan	CDC GDPinfo	7132	Hs.279594			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		191190	28627	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
137005		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	12	12p13.2	TNFRSF1A	6308183	6321522		Zee, R. Y.  et al. 2002	12082592				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDPinfo	7132	Hs.279594			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		191190	28672	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
137006	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	n	Kawasaki A et al. 2000	11196680	M196R		coding sequence	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	Tsuchiya N	7133	Hs.256278			Genes and immunity. 2000 Aug;1(6):351-7			191191	6120	1	2000		Case:154; Control:265										
137008	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	0.048	Kyogoku C et al. 2003	12528135	M196R		coding sequence	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	Tsuchiya N	7133	Hs.256278			Arthritis and rheumatism. 2003 Jan;48(1):273-4			191191	6122	1	2003		Case:588; Control:308										
137009	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	0.048	Kyogoku C et al. 2003	12528135	M196R		coding sequence	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	Tsuchiya N	7133	Hs.256278			Arthritis and rheumatism. 2003 Jan;48(1):273-4			191191	6123	1	2003		Case:588; Control:308										
137010	Y	bone mass	METABOLIC	MET		1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Albagha OM et al. 2002	12217957				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			KGB	7133	Hs.256278			Human molecular genetics. 2002 Sep;11(19):2289-95	Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women.		191191	6124	1	2002	In summary, our work supports the view that allelic variation in the 3'UTR of TNFRSF1B gene contributes to the genetic regulation of bone mass, with effects that are specific for femoral neck BMD.	Cohort 1240 perimenopausal women UK										
137011	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Hypertension	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	n	Dahlqvist SR et al. 2002	12428254				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Sweden	KGB	7133	Hs.256278			Arthritis and rheumatism. 2002 Nov;46(11):3096-8	Tumor necrosis factor receptor type II (exon 6) and interleukin-6 (-174) gene polymorphisms are not associated with family history but tumor necrosis factor receptor type II is associated with hypertension in patients with rheumatoid arthritis from northe		191191	6125	1	2002												
137012	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Fernandez-Real JM et al. 2000	10841005				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			KGB	7133	Hs.256278			Diabetes care. 2000 Jun;23(6):831-7	Polymorphism of the tumor necrosis factor-alpha receptor 2 gene is associated with obesity leptin levels and insulin resistance in young subjects and diet-treated type 2 diabetic patients.		191191	6126	1	2000	 The presence of the A2 allele in the TNFR2 gene may predispose subjects to obesity and higher leptin levels, which may in turn predispose them to insulin resistance or vice versa. The TNFR2 gene may be involved in weight-control mechanisms.											
137013	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	0.001	Komata T et al: 1999	10395102	M196R		coding sequence	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	Tsuchiya N	7133	Hs.256278			Tissue antigens. 1999 Jun;53(6):527-33			191191	6127	1	1999		Case:81; Control:207										
137014	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	n	Glossop JR 2003	12858434				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			KGB	7133	Hs.256278			The Journal of rheumatology. 2003 Jul;30(7):1406-9	No association of polymorphisms in the tumor necrosis factor receptor I and receptor II genes with disease severity in rheumatoid arthritis.		191191	6128	1	2003	 Our data suggest that neither the +36 TNFRSF1A SNP nor the +196 TNFRSF1B SNP is associated with RA severity in a population of Caucasian patients with RA.	Cohort 181 Caucasian patients with rheumatoid arthritis										
137016		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Sullivan KE 2000	11196716				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			Y Wang	7133	Hs.256278			Genes and immunity. 2000 Feb;1(3):225-7	A TNFR2 3' flanking region polymorphism in systemic lupus erythematosus.		191191	6130	1	2000												
137017		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Constantin A 2004	15022314				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	French		KGB	7133	Hs.256278			Arthritis and rheumatism. 2004 Mar;50(3):742-7	Tumor necrosis factor receptor II gene polymorphism and severity of rheumatoid arthritis.		191191	6131	1	2004	 The results of the present study support the hypothesis that there is an association between the TNFRII 196 M/R gene polymorphism and the functional severity of early RA.											
137019		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Lee YH 2003	12739039				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian	Korea	Y Wang	7133	Hs.256278			Rheumatology international. 2003 May;23(3):108-11	The biallelic variable number of tandem repeats of the tumor necrosis factor receptor 2 promoter in systemic lupus erythematosus.		191191	6133	1	2003												
137020		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Al-Ansari AS 2000	10703622				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Spanish and UK Caucasoids		Y Wang	7133	Hs.256278			Tissue antigens. 2000 Jan;55(1):97-9	Tumor necrosis factor receptor II (TNFRII) exon 6 polymorphism in systemic lupus erythematosus.		191191	6134	1	2000												
137021	Y	Rheumatoid Arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	0.0017	Dieude P et al. 2002	12209506	single nucleotide polymorphism 196M/R located in exon 6		coding sequence	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	French caucasian population		Philippe Dieud?	7133	Hs.256278			Arthritis and rheumatism. 2002 Aug;46(8):2039-44	Association between tumor necrosis factor receptor II and familial, but not sporadic rheumatoid arthritis: evidence for genetic heterogeneity		191191	6135	1	2002	 This study is the first to replicate evidence of the involvement of TNFR2 in RA genetic heterogeneity. Our data refine the initial hypothesis, to suggest that a TNFR2 recessive factor, in linkage disequilibrium with the 196R allele, plays a major role in a subset of families with multiple cases of RA.	Case:88 index from ASP families and 100 index from TDT families; Control:100 controls (untransmitted parental chromosomes)										
137022	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	p<0,05	Fernandez-Real Diabetes Care. 2000 Jun;23(6):831-7	10841005			3'untranslated	Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasic		Montserrat Broch	7133	Hs.256278			Diabetes care. 2000 Jun;23(6):831-7	Polymorphism of the tumor necrosis factor-alpha receptor 2 gene is associated with obesity, leptin levels, and insulin resistance in young subjects and diet-treated type 2 diabetic patients.		191191	6136	1	2000	 The presence of the A2 allele in the TNFR2 gene may predispose subjects to obesity and higher leptin levels, which may in turn predispose them to insulin resistance or vice versa. The TNFR2 gene may be involved in weight-control mechanisms.	Case:110; Control:107										
137023	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Morita C et al. 2001	11762942				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	KGB	7133	Hs.256278			Arthritis and rheumatism. 2001 Dec;44(12):2819-27	Association of tumor necrosis factor receptor type II polymorphism 196R with Systemic lupus erythematosus in the Japanese: molecular and functional analysis.		191191	6137	1	2001	 These results suggest that 196R TNFRII, which transduces the signals of TNFalpha more effectively than does 196M TNFRII, is involved in the pathogenesis of SLE.	Case:105 Japanese SLE patients;Control:99 healthy controls										
137024	Y	human narcolepsy.	OTHER	OTH	Narcolepsy	1	1p36.3-p36.2	TNFR2	12149646	12191864		Hohjoh H et al. 2000	11144293				tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC052977			KGB	7133	Hs.256278			Tissue antigens. 2000 Nov;56(5):446-8	Significant association of the tumor necrosis factor receptor 2 (TNFR2) gene with human narcolepsy.		191191	6138	1	2000												
137025	N	autoimmune disease	IMMUNE	IMM	Vasculitis|Autoimmune Diseases|Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFR2	12149646	12191864	n	Takahashi M et al. 2001	11169260				tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC052977	Japanese	Japan	KGB	7133	Hs.256278			Tissue antigens. 2001 Jan;57(1):66-9	Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese.		191191	6139	1	2001												
137027	N	systemic lupus erythematosus; Buerger's disease; connective tissue disease, mixed; Takayasu's arteritis	IMMUNE	IMM	Vasculitis|Autoimmune Diseases|Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Takahashi, M.  et al. 2001	11169260	Met196Arg			Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	CDC GDPinfo	7133	Hs.256278			Tissue antigens. 2001 Jan;57(1):66-9	Lack of association between the Met196Arg polymorphism in the TNFR2 gene and autoimmune diseases accompanied by vasculitis including SLE in Japanese.		191191	14398	2	2001	We found no association at all between the TNFR2 polymorphism and any autoimmune diseases including SLE in Japanese.	Cohort Japanese patients with systemic lupus erythematosus Japan 										
137028	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Morita, C.  et al. 2001	11762942	196R			Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	CDC GDPinfo	7133	Hs.256278			Arthritis and rheumatism. 2001 Dec;44(12):2819-27	Association of tumor necrosis factor receptor type II polymorphism 196R with Systemic lupus erythematosus in the Japanese: molecular andfunctional analysis.		191191	14402	2	2001	 These results suggest that 196R TNFRII, which transduces the signals of TNFalpha more effectively than does 196M TNFRII, is involved in the pathogenesis of SLE.	Case:105 Japanese SLE patients;Control:99 healthy controls										
137029	Y	bone density	METABOLIC	MET		1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Albagha, O. M.  et al. 2002	12217957				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Human molecular genetics. 2002 Sep;11(19):2289-95	Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women.		191191	14406	2	2002	In summary, our work supports the view that allelic variation in the 3'UTR of TNFRSF1B gene contributes to the genetic regulation of bone mass, with effects that are specific for femoral neck BMD.	Cohort 1240 perimenopausal women UK 										
137030	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Bone	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Tasker, P. N.  et al. 2004	15071724				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Osteoporosis international. 2004 Nov;15(11):903-8	Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture		191191	14412	2	2004	These data show that allelic variation within the TNFRSF1B gene contributes to the genetic regulation of FN-BMD and show that it is the ATC haplotype in the 3'UTR region of the gene, rather than other polymorphic variants, that seem to be responsible for the effects observed.	Cohort a population-based cohort of Scottish women Scotland 										
137031		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket|Chronic Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Shimada, Y.  et al. 2004	15142217	(+587)			Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	CDC GDPinfo	7133	Hs.256278			Journal of clinical periodontology. 2004 Jun;31(6):463-9	Association of tumor necrosis factor receptor type 2 +587 gene polymorphism with severe chronic periodontitis.		191191	14413	2	2004	 These findings suggest that the TNFR2(+587G) polymorphic allele could be associated with severe CP in Japanese.	Control:controls;Case:196 Japanese unrelated non-smoking subjects (age 40-65 years) with different levels of chronic:periodontitis										
137032	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Neoplasm Recurrence, Local	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Mestiri, S.  et al. 2005	15863392				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Cytokine. 2005 May;30(4):182-7	A functional polymorphism of the tumor necrosis factor receptor-II gene associated with the survival and relapse prediction of breast carcinoma.		191191	14422	2	2005	 Genetic variation in TNFRII may predict the late onset of breast carcinoma, relapse and death for patients with breast carcinoma.	Control:200 healthy control subjects;Case:300 unrelated patients with breast carcinoma:Tunisia										
137033	Y	obesity; polycystic ovarian syndrome; hyperandrogenism	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Peral, B.  et al. 2002	12161545				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Italy|Spain	CDC GDPinfo	7133	Hs.256278			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):3977-83	Comment: the methionine 196 arginine polymorphismin exon 6 of the TNF receptor 2 gene (TNFRSF1B) is associated with the polycystic ovary syndrome and hyperandrogenism.		191191	19929	2	2002	In conclusion, the M196R (676 T-->G) variant in exon 6 of TNFRSF1B is associated with hyperandrogenism and PCOS, further suggesting a role for inflammatory cytokines in the pathogenesis of these disorders.	Case:103/75 hyperandrogenic patients (42 presenting with PCOS, n=103) and and extended analysis including another 11 hyperandrogenic patients from Spain and 64 patients from Italy:Spain;Control:36/29 controls (n=36) and 29 Italian controls in the extended analysis										
137034	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Ehling, R.  et al. 2004	14651520				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Tissue antigens. 2004 Jan;63(1):28-33	Genetic variants in the tumor necrosis factor receptor II gene in patients with multiple sclerosis.		191191	19932	2	2004	We found a significant association between exon 10 nt 1668*T-->G polymorphism and susceptibility to MS. The other investigated nucleotide substitutions were not associated with susceptibility to or clinical parameters in MS.	Control:174 platelet donors, serving as healthy controls;Case:321 multiple sclerosis cases from the Austrian Genetics in MS study groups										
137035		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Speirs, H. J.  et al. 2005	16003175				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Journal of hypertension. 2005 Aug;23(8):1491-6	No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36.		191191	23751	2	2005	 Our data fail to support previous association findings for TNFRSF1B and CLCNKB at the chromosome 1p36 locus implicated in hypertension.											
137036	Y	bone density	METABOLIC	MET		1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Spotila, L. D.  et al. 2003	14565595				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Calcified tissue international. 2003 Aug;73(2):140-6	Association Analysis of Bone Mineral Density and Single Nucleotide Polymorphisms in Two Candidate Genes on Chromosome 1p36		191191	23752	2	2003	These findings strengthen the potential importance of chromosome 1p36.2-1p36.3 in contributing to BMD variation, and are consistent with genetic variation in either PLOD1, TNFRSF1B or nearby genes playing a role in the phenotype.	Cohort 104 patients of European descent 										
137037	N	pulmonary fibrosis; pneumoconiosis, coal workers'	CARDIOVASCULAR	CARD	Pneumoconiosis|Pulmonary Fibrosis|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Li, L.  et al. 2004	15355698				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Aug;22(4):241-4	[Potential effect of tumor necrosis factor-alpha and its receptor II gene polymorphisms on the pathogenesis of coal worker's pneumoconiosis]		191191	23753	2	2004	 TNF-alpha and TNFRII gene polymorphisms does not play an important role in susceptibility to CWP of Han race. TNF-alpha gene promoter polymorphisms might be related with the degree of severe pulmonary fibrosis in CWP.	Case:234 cases of coal worker's pneumoconiosis (CWP);Control:440 coal mine workers										
137038	N	silicosis	IMMUNE	IMM	Silicosis|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Li, L.  et al. 2004	15555301				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2004 Oct;22(5):323-6	[Potential effect of tumor necrosis factor-alpha and tumor necrosis factor receptor II gene polymorphisms on the pathogenesis of silicosis.]		191191	23754	2	2004	 TNF-alpha and TNFR II gene polymorphisms did not play an important role in susceptibility to silicosis of Han race. There was interaction between polymorphism of TNF-alpha gene promoter and exposure time in the occurrence of silicosis. The risk of silicosis in those with G/A + A/A genotype was significantly higher than G/G genotype in low accumulative exposure.	Case:259 Han Chinese silicosis cases;Control:341 silica-dust exposure workers	silica-dust									
137039	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Tolusso, B.  et al. 2005	15585313				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Immunology letters. 2005 Jan;96(1):103-8	-238 and +489 TNF-alpha along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis.		191191	23755	2	2005	 TNF-alpha and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.	Case:114 consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets:Italy;Control:170 healthy blood donors										
137040		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Barton, A.  et al. 2001	11212177				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Arthritis and rheumatism. 2001 Jan;44(1):61-5	Association between rheumatoid arthritis and polymorphism of tumor necrosis factor receptor II, but not tumor necrosis factor receptor I, in Caucasians		191191	23756	2	2001	 The results of this study provide evidence of association between an SNP in the TNFRII gene and RA, the strongest association being observed in patients with a family history. No evidence of association between RA and TNFRI was demonstrated.	Control:143 healthy Caucasian controls;Case:291 Unrelated Caucasian RA patients										
137041		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Bridges, S. L. = Jr et al. 2002	12209507				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	African American		CDC GDPinfo	7133	Hs.256278			Arthritis and rheumatism. 2002 Aug;46(8):2045-50	Single-nucleotide polymorphisms in tumor necrosis factor receptor genes: definition of novelhaplotypes and racial/ethnic differences.		191191	23757	2	2002	 Although we observed no associations between known TNFR SNPs or haplotypes and RA, significant racial differences were observed at both loci. Comparison of these data with other published frequencies of TNFRSF1A and TNFRSF1B genotypes according to race suggests that the distribution in African American, Caucasian, and Asian populations differs significantly. These striking racial/ethnic differences in TNFR SNP frequencies may influence the likelihood of familial RA, severe disease, or response to TNF inhibitors and may have important evolutionary implications.	Case:108 African Americans with rheumatoid arthritis;Control:62/59 healthy African Americans (n=62) and Caucasians:(n=59)										
137042		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Chronic Disease|Disease Susceptibility	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Bayley, J. P.  et al. 2003	12730509				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Dutch	Netherlands	CDC GDPinfo	7133	Hs.256278			Rheumatology (Oxford, England). 2003 Aug;42(8):969-71	Association of polymorphisms of the tumour necrosis factor receptors I and II and rheumatoid arthritis.		191191	23758	2	2003	 These TNF-RI and TNF-RII polymorphisms were not found to be associated with susceptibility to or severity of RA in the Dutch population.	Control healthy controls;Case:319/90 consecutive rheumatoid arthritis patients (n=319), and a cohort of female rheumatoid arthritis patients with detailed 12-yr follow-up (n=90) the Netherlands										
137043	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Glossop, J. R.  et al. 2003	12858434				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian		CDC GDPinfo	7133	Hs.256278			The Journal of rheumatology. 2003 Jul;30(7):1406-9	No association of polymorphisms in the tumor necrosis factor receptor I and receptor II genes with disease severity in rheumatoid arthritis.		191191	23759	2	2003	 Our data suggest that neither the +36 TNFRSF1A SNP nor the +196 TNFRSF1B SNP is associated with RA severity in a population of Caucasian patients with RA.	Cohort 181 Caucasian patients with rheumatoid arthritis 										
137044		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Pierik, M.  et al. 2004	15274667				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Alimentary pharmacology & therapeutics. 2004 Aug;20(3):303-10	Tumour necrosis factor-alpha receptor 1 and 2 polymorphisms in inflammatory bowel disease and their association with response to infliximab.		191191	23760	2	2004	 The TNFR2 587G allele was more frequent in ulcerative colitis. Both single nucleotide polymorphisms were negatively associated with smoking in Crohn's disease. A relation between TNFR1A36G and pancolitis was found in ulcerative colitis. There was no clear effect of the polymorphisms on infliximab response although, the TNFR1 minor was associated with a lower response to infliximab.	Control:controls;Case:344/152 Crohn's disease (n=344) and ulcerative colitis:(n=152) patients										
137046		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Dieude, P.  et al. 2004	14872483				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		France	CDC GDPinfo	7133	Hs.256278			Arthritis and rheumatism. 2004 Feb;50(2):413-9	A TNFR1 genotype with a protective role in familial rheumatoid arthritis		191191	23762	2	2004	 We found evidence for an association between RA and a TNFR1 protective genotype, restricted to familial RA. Distribution of the TNFR2 196 R/R and TNFR1 +36 A/A genotypes in familial RA could suggest an interaction between TNFR1 and TNFR2 in the genetic susceptibility for RA.	Cohort 86 rheumatoid arthritis index patients from families with at least 2 siblings with rheumatoid arthritis 										
137047		diabetes, type 2; nephropathy in other diseases	UNKNOWN	UNK	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Vendrell, J.  et al. 2005	15787661				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Diabetic medicine. 2005 Apr;22(4):387-92	Tumour necrosis factor receptors (TNFRs) in Type 2 diabetes. Analysis of soluble plasma fractions and genetic variations of TNFR2 gene in a case-control study.		191191	23763	2	2005	 Our findings suggest that chronic TNF activation may have some pathogenic role in diabetic nephropathy in DM2 patients. Genetic variations in exon 6/intron 4 of the TNFR2 gene do not predispose to a major risk for DM2 or its microvascular complications.	Control:173 healthy subjects;Case:345 type 2 diabetics										
137048		anemia, iron deficiency; anemia of chronic disease	HEMATOLOGICAL	HEM	Arthritis, Rheumatoid|Anemia|Anemia, Iron-Deficiency|Disease Progression|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Glossop, J. R.  et al. 2005	16142859				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			The Journal of rheumatology. 2005 Sep;32(9):1673-8	Anemia in rheumatoid arthritis: association withpolymorphism in the tumor necrosis factor receptor I and II genes.		191191	23764	2	2005	 Our data suggest that polymorphisms within the TNFRSF1A and TNFRSF1B genes are associated with IDA and/or ACD in patients with RA.											
137049		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Teramoto, M.  et al. 2004	15212671				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			American journal of reproductive immunology (New York, NY :  1989). 2004 May;51(5):352-7	Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility.		191191	25711	2	2004	 Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.	Case:123 patients with endometriosis;Control:165 fertile healthy women										
137050	Y	Crohn's disease	IMMUNE	IMM	Colitis|Ileitis|Crohn Disease|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Waschke, K. A.  et al. 2005	15842589				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian		CDC GDPinfo	7133	Hs.256278			The American journal of gastroenterology. 2005 May;100(5):1126-33	Tumor necrosis factor receptor gene polymorphisms in Crohn's disease: association with clinicalphenotypes.		191191	25712	2	2005	 These data constitute the first report of an association of TNFRSF1A and TNFRSF1B polymorphisms with CD in a Caucasian population and address the role of TNFR mutations in determining clinical heterogeneity in CD.	Control:106:controls;Case:205 consecutively identified and unrelated patients with Crohn's disease										
137051	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Allen, R. A.  et al. 2001	11737221				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			European journal of clinical investigation. 2001 Oct;31(10):843-51	Polymorphisms in the TNF-alpha and TNF-receptor genes in patients with coronary artery disease		191191	25713	2	2001	 Polymorphisms in the TNF-alpha promoter region and TNF-receptor genes are not associated with the development of CAD.	Case:180 patients with angiographically proven single vessel (n = 58) and multivessel (n = 122) coronary artery:disease;Control:250 volunteers without clinical evidence of coronary artery disease										
137052	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Sashio, H.  et al. 2002	11904678				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Immunogenetics. 2002 Mar;53(12):1020-7	Polymorphisms of the TNF gene and the TNF receptor superfamily member 1B gene are associated with susceptibility to ulcerative colitis and Crohn's disease, respectively.		191191	25714	2	2002	This study suggests that one of the genes responsible for UC may be the TNF gene, or an adjacent gene, and that TNFRSF1B gene polymorphisms contribute greatly to the increased onset risk of CD and to the disease behavior.	Case:106 patients with ulcerative colitis;Control:111 unrelated healthy controls;Case:124 patients with Crohn's disease										
137053		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Zeggini, E.  et al. 2002	11961180				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Great Britain	CDC GDPinfo	7133	Hs.256278			Rheumatology (Oxford, England). 2002 Apr;41(4):462-5	Tumour necrosis factor receptor II polymorphism and juvenile idiopathic arthritis		191191	25715	2	2002	 This TNFRII exon 6 SNP does not seem to be associated with susceptibility to JIA.	Control:261 healthy individuals;Case:435 patients with juvenile idiopathic arthritis										
137054	N	narcolepsy	IMMUNE	IMM	Narcolepsy	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Wieczorek, S.  et al. 2003	12601524				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Germany	CDC GDPinfo	7133	Hs.256278			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):87-90	Polymorphisms of the tumor necrosis factor receptors: no association with narcolepsy in Germanpatients.		191191	25716	2	2003	In summary, our data do not provide evidence that TNFR genes are etiologically important for narcoleptic symptoms in German patients. In addition, our resutls provide further evidence for genetic heterogeneity among narcolepsy populations of different ethnic origin.	Case:100/93 German Caucasian unrelated patients with narcolepsy tested for TNFRSF1A (n=100) and for TNFRSF1B (n=93):Germany;Control:93/94 controls tested for TNFRSF1A (n=93) and for:TNFRSF1B (n=94)										
137055	N	sepsis	INFECTION	INF	Sepsis|Shock, Septic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Gordon, A. C.  et al. 2004	15526005				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Australia|England	CDC GDPinfo	7133	Hs.256278			Genes and immunity. 2004 Dec;5(8):631-40	TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study.		191191	25717	2	2004	In this study, there were no significant associations between the selected candidate TNF or TNF receptor polymorphisms, or their haplotypes, and susceptibility to sepsis, illness severity or outcome. The influence of polymorphisms of the TNF locus on susceptibility to, and outcome from sepsis remains uncertain.	Cohort 213 Caucasian patients recruited from eight intensive care units UK and Australia 										
137056		Crohn's disease	IMMUNE	IMM	Crohn Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Mascheretti, S.  et al. 2002	12049175				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			The pharmacogenomics journal. 2002 ;2(2):127-36	Pharmacogenetic investigation of the TNF/TNF-receptor system in patients with chronic active Crohn's disease treated with infliximab.		191191	25718	2	2002	The discrepancy between the two cohorts observed for the TNF-R-II exon 6 and exon 2 polymorphism may point to a weak effect on treatment response but also serves to illustrate the need for a sequential exploratory/confirmatory design in pharmacogenetic studies.	Case refractory Crohn's disease patients;Control healthy controls:Cohort:90/444 an exploratory cohort (n=90) and a confirmatory cohort (n=444) from independent, prospective clinical trials	infliximab									
137057		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Nicklas, B. J.  et al. 2005	16282562				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			The journals of gerontology Series A, Biological sciences and medical sciences. 2005 Oct;60(10):1292-8	Physical function and its response to exercise:associations with cytokine gene variation in older adults with knee osteoarthritis.		191191	25719	2	2005	 Walking distance and stair climbing speed are partly influenced by genetic variation in the IL-6 and TNFalpha genes in older individuals with knee osteoarthritis.		physical activity									
137058		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Hohjoh, H.  et al. 2001	11285131				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Tissue antigens. 2001 Mar;57(3):230-5	Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.		191191	26717	2	2001	Results agreed with the negative association of DRB1*1502 and positive association of the TNF-alpha(-857T) and TNFR2-196R combination with the disorder. In addition, a significant association of the TNF-alpha(-857T) homozygote with the disorder and an increase in a rare haplotype carrying DRB1*1501 and TNF-alpha(-857T) in the patients were also observed in the present study.	Case narcoleptic patients;Control healthy individuals										
137059		idiopathic pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Disease Progression|Inflammation	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Pantelidis, P.  et al. 2001	11371414				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Great Britain	CDC GDPinfo	7133	Hs.256278			American journal of respiratory and critical care medicine. 2001 May;163(6):1432-6	Analysis of tumor necrosis factor-alpha, lymphotoxin-alpha, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis.		191191	26718	2	2001	These findings, if independently confirmed, will be the first to suggest that disease progression in IPF may be linked to a particular genetic marker or to functional polymorphisms in other genes near that marker.	Case Idiopathic pulmonary fibrosis subjects;Control normal control population										
137060		lymphoma	CANCER	CAN	Lymphoma|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Wu, M. S.  et al. 2004	15146559				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			International journal of cancer. Journal international du cancer. 2004 Jul;110(5):695-700	Promoter polymorphisms of tumor necrosis factor-alpha are associated with risk of gastric mucosa-associated lymphoid tissue lymphoma.		191191	26719	2	2004	We concluded that TNF-alpha -857 T itself or a neighboring gene may modify the risk of maltoma. The differences in genetic background as well as divergent clinicopathologic features between GAC and maltoma support the notion that fundamental mechanistic differences exist in these 2 well-defined H. pylori-related malignancies.	Control:210 unrelated healthy controls;Case:70/204 patients with maltoma (n=70) and patients with noncardia GAC (n=204)										
137061	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Ferrarotti, I.  et al. 2003	12661999				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			The European respiratory journal. 2003 Mar;21(3):444-9	Tumour necrosis factor family genes in a phenotype of COPD associated with emphysema.		191191	26720	2	2003	No significant deviations were found concerning the four polymorphisms studied between the two populations. The authors confirm that the tumour necrosis factor family genes, at least for the polymorphisms investigated, are not major genetic risk factors for chronic obstructive pulmonary disease in Caucasians, either defined in terms of emphysema (this study) or airflow obstruction (previous studies). Nevertheless, the authors would like to emphasise the importance of narrowing the phenotype in the search for genetic risk factors in chronic obstructive pulmonary disease.	Case:63 chronic obstructive pulmonary disease patients;Control:86 healthy smokers										
137063		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Nishimura, M.  et al. 2003	12559634				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	CDC GDPinfo	7133	Hs.256278			Human immunology. 2003 Feb;64(2):302-9	TNF, TNF receptor type 1, and allograft inflammatory factor-1 gene polymorphisms in Japanese patients with type 1 diabetes.		191191	27309	2	2003	These results suggest that the TNFR1 gene region might be a susceptible locus to type 1 diabetes in Japanese.	Control:200 control patients;Case:90/75 Japanese patients with young-onset type 1 diabetes (n=90) and patients with adult-onset type 1:diabetes (n=75)										
137064		myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Nishimura, M.  et al. 2000	11163081				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		191191	27310	2	2000	The results suggest that the TNF/LT-alpha gene region within the HLA class III of chromosome 6 and the TNFR-2 gene region located on chromosome 1p36 might contribute to susceptibility to HAM, and that aberrant expression or function of these cytokines and the receptor could be involved in the development of HAM.	Control:50/112 asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112);Case:51/48 Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell:leukemia/lymphoma (ATL) (n = 48)	human T lymphotropic virus									
137066		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Tsuchiya, N.  et al. 2003	12858454				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese	Japan	CDC GDPinfo	7133	Hs.256278			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		191191	28018	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
137067		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Nishimura, M.  et al. 2003	12651071				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		191191	28125	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
137068		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Miterski, B.  et al. 2004	15018649				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2		Germany	CDC GDPinfo	7133	Hs.256278			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		191191	28126	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
137069		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Tsao, B. P.   2002	12126589				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		191191	28205	2	2002	Review article											
137070		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Barton, A.  et al. 2002	11981324				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		191191	28611	2	2002	Review article											
137071		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Chromosome Aberrations|Genetic Predisposition to Disease	6	6p21.1-12.2	TNFRSF21	47307226	47385639			16378686				Tumor necrosis factor receptor superfamily, member 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014452.3			CDC GDPinfo	27242	Hs.443577			Neuroscience letters. 2005	Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG		605732	27311	2	2005												
137072		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p36.2	TNFRSF25	6443800	6448842		Ding, H.  et al. 2001	11793848				Tumor necrosis factor receptor superfamily, member 25	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148965.1			CDC GDPinfo	8718	Hs.462529			Chinese medical journal. 2001 Dec;114(12):1263-6	Relationship of large multifunctional proteasome 7 gene polymorphism with susceptibility to type 1 diabetes mellitus and DR3 gene.		603366	23765	2	2001	 LMP7-B/B may be the protective genotype, and LMP7-B/A may be the susceptible genotype of DM-1, and this may not be affected by the DR3 gene. Persons with LMP7-B/B may have a decreased risk, and those with LMP7-B/A have an increased risk suffering from DM-1. The LMP7 gene may not be associated with the age of diabetic onset.	Case:71 diabetes mellitus type 1 patients;Control:86 healthy people										
137073		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p36.2	TNFRSF25	6443800	6448842		Ding, H.  et al. 1999	11601002				Tumor necrosis factor receptor superfamily, member 25	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148965.1			CDC GDPinfo	8718	Hs.462529			Zhonghua yi xue za zhi. 1999 Jan;79(1):28-30	[Relationship of polymorphism of LMP2 gene to insulin-dependent diabetes mellitus and DR3 gene]		603366	23766	2	1999	 There may be a significant association of LMP2-R/H and LMP2-R/R with the susceptibility to IDDM. The LMP2-R/H is a susceptible gene. The people with LMP2-R/H have a higher risk of suffering from IDDM. The LMP2-R/R is a protective gene. The people with LMP2-R/R have a decreased risk of suffering from IDDM. The effects of LMP2 on ID-DM are not affected by DR3 gene.	Case:68 insulin-dependent diabetes mellitus patients;Control:71 healthy controls										
137074		diabetes, type 1	IMMUNE	IMM		1	1p36.2	TNFRSF25	6443800	6448842		Ding, H. L.  et al. 2000	11819535				Tumor necrosis factor receptor superfamily, member 25	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148965.1	Chinese		CDC GDPinfo	8718	Hs.462529			World journal of gastroenterology. 2000 Feb;6(1):111-114	The relationship of lmp2 and DR3 genes with susceptibility to type I diabetes mellitus in south China Han population.		603366	23767	2	2000	DR3 gene may be one of the susceptible genes of I-DM,and significantly related to the onset age of diabetics, and the persons with DR3 may have an younger onset age of diabetes.The lmp2-R/R may be the protective genotype of I-DM, and lmp2-R/H the susceptible genotype. These were not affected by DR3 gene. lmp2 genotypes were not related with the onset age of diabetics.	Case:68 patients with type I diabetes mellitus;Control:71 healthy controls										
137075	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1p36	TNFRSF4	1136568	1139375		Ria, M.  et al. 2005	16329997				Tumor necrosis factor receptor superfamily, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003327.2			CDC GDPinfo	7293	Hs.129780			Biochemical and biophysical research communications. 2006 Jan;339(3):1001-6	Human genetic evidence that OX40 is implicated in myocardial infarction		600315	19940	2	2005												
137076		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p36	TNFRSF8	12046020	12126851		Ahmed S 2004	11960307				Tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243.3	Japanese	Japan	Y Wang	943	Hs.1314			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		153243	1171	1	2004	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137077		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p36	CD30	12108544	12126851		Ahmed S et al. 2002	11960307				tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243	Japanese	Japan	KGB	943	Hs.1314			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		153243	1172	1	2002												
137078		HIV	INFECTION	INF	HIV Infections	1	1p36	TNFRSF8	12046020	12126851		McIntyre, M. Q.  et al. 2003	12648280			promoter	Tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243.3			CDC GDPinfo	943	Hs.1314			European journal of immunogenetics. 2003 Apr;30(2):125-8	Distribution of human CD30 gene promoter microsatellite alleles in healthy and human immunodeficiency virus-1 infected populations.		153243	14428	2	2003	As soluble CD30 levels are predictive for disease associated with human immunodeficiency virus (HIV)-1 infection, we also determined allele frequencies in an HIV+ cohort.	Cohort healthy Western Aurstralians and and HIV+ cohort 										
137079		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p36	TNFRSF8	12046020	12126851		Ahmed, S.  et al. 2002	11960307				Tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243.3	Japanese	Japan	CDC GDPinfo	943	Hs.1314			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		153243	19941	2	2002	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137080		HIV	INFECTION	INF		3	3q26	TNFSF10	173706157	173723963		Gray, H. L.  et al. 2001	11781716			3' UTR	Tumor necrosis factor (ligand) superfamily, member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003810.2			CDC GDPinfo	8743	Hs.478275			Genes and immunity. 2001 Dec;2(8):469-70	Three polymorphisms in the 3' UTR of the TRAIL (TNF-related apoptosis-inducing ligand) gene.		603598	14429	2	2001	not in abstract	Cohort Over 50 individuals from each of two populations, Caucasian and African Americans 										
137081		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	3	3q26	TNFSF10	173706157	173723963		Kikuchi, S.  et al. 2005	16040132				Tumor necrosis factor (ligand) superfamily, member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003810.2	Japanese	Japan	CDC GDPinfo	8743	Hs.478275			Journal of neuroimmunology. 2005 Oct;167(2-Jan):170-4	TNF-related apoptosis inducing ligand (TRAIL) gene polymorphism in Japanese patients with multiple sclerosis.		603598	14430	2	2005												
137082		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	13	13q14	TNFSF11	42043715	42080148		Wu, H.  et al. 2004	15476205				Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2			CDC GDPinfo	8600	Hs.333791			Arthritis and rheumatism. 2004 Oct;50(10):3093-103	Interaction between RANKL and HLA-DRB1 genotypes may contribute to younger age at onset of seropositive rheumatoid arthritis in an inception cohort.		602642	23768	2	2004	 This study provides the first evidence that novel RANKL polymorphisms were associated with an earlier age at RA onset in SE+, but not SE-, patients and that an interaction between SE-containing HLA-DRB1 and RANKL polymorphisms increased the disease penetrance, resulting in a mean age at RA onset that was 18-20 years younger. Our results also suggested genetic differences between patients with early-onset and those with late-onset RA.	Cohort 237 patients with early rheumatoid arthritis (within 15 months of symptom onset) who were seropositive for rheumatoid factor. 										
137083		bone density	METABOLIC	MET		13	13q14	TNFSF11	42043715	42080148		Hsu, Y. H.  et al. 2005	16249885				Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2			CDC GDPinfo	8600	Hs.333791			Human genetics. 2006 Jan;118(5):568-77	Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.		602642	25720	2	2005												
137084	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	13	13q32-34	TNFSF13B	107719977	107757366	n	Kawasaki A et al.2002	12424625				Tumor necrosis factor (ligand) superfamily, member 13b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006573.3	Japanese		Tsuchiya N	10673	Hs.525157			Genes and immunity. 2002 Nov;3(7):424-9	Analysis on the association of human BLYS (BAFF, TNFSF13B) polymorphisms with systemic lupus erythematosus and rheumatoid arthritis.		603969	6671	1	2002	Significant association with the susceptibility to SLE or RA was not observed. However, a tendency for the increase of -871T/T genotype was observed in SLE patients with anti-Sm antibody (P=0.082). BLYS mRNA level was significantly elevated in the monocytes from individuals carrying -871T (P=0.010). In addition, although statistically not significant, 105Thr allele was slightly increased in patients with RA compared with controls (P=0.058). Characterizing the functional and clinical significance of these new SNPs requires further study.	Case:221/156 Japanese patients with rheumatoid arthritis (n=221) and with systemic lupus erythematosus (n=156);Control:227 healthy individuals										
137085	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	13	13q32-34	TNFSF13B	107719977	107757366	n	Kawasaki A et al.2002	12424625				Tumor necrosis factor (ligand) superfamily, member 13b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006573.3	Japanese		Tsuchiya N	10673	Hs.525157			Genes and immunity. 2002 Nov;3(7):424-9	Analysis on the association of human BLYS (BAFF, TNFSF13B) polymorphisms with systemic lupus erythematosus and rheumatoid arthritis.		603969	6672	1	2002	Significant association with the susceptibility to SLE or RA was not observed. However, a tendency for the increase of -871T/T genotype was observed in SLE patients with anti-Sm antibody (P=0.082). BLYS mRNA level was significantly elevated in the monocytes from individuals carrying -871T (P=0.010). In addition, although statistically not significant, 105Thr allele was slightly increased in patients with RA compared with controls (P=0.058). Characterizing the functional and clinical significance of these new SNPs requires further study.	Case:221/156 Japanese patients with rheumatoid arthritis (n=221) and with systemic lupus erythematosus (n=156);Control:227 healthy individuals										
137086	Y	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	13	13q32-34	TNFSF13B	107719977	107757366		Kawasaki, A.  et al. 2002	12424625				Tumor necrosis factor (ligand) superfamily, member 13b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006573.3			CDC GDPinfo	10673	Hs.525157			Genes and immunity. 2002 Nov;3(7):424-9	Analysis on the association of human BLYS (BAFF, TNFSF13B) polymorphisms with systemic lupus erythematosus and rheumatoid arthritis.		603969	14432	2	2002	Significant association with the susceptibility to SLE or RA was not observed. However, a tendency for the increase of -871T/T genotype was observed in SLE patients with anti-Sm antibody (P=0.082). BLYS mRNA level was significantly elevated in the monocytes from individuals carrying -871T (P=0.010). In addition, although statistically not significant, 105Thr allele was slightly increased in patients with RA compared with controls (P=0.058). Characterizing the functional and clinical significance of these new SNPs requires further study.	Case:221/156 Japanese patients with rheumatoid arthritis (n=221) and with systemic lupus erythematosus (n=156);Control:227 healthy individuals										
137087		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	9	9q32	TNFSF15	116591431	116608229		Yamazaki, K.  et al. 2005	16221758				Tumor necrosis factor (ligand) superfamily, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005118.2		Great Britain	CDC GDPinfo	9966	Hs.241382			Human molecular genetics. 2005 Nov;14(22):3499-506	Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.		604052	14433	2	2005												
137088	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	1	1q25	TNFSF4	171419492	171443094	n	Hikami et al. 2000	11197696				Tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003326.2	Japanese		Tsuchiya N	7292	Hs.181097			Genes and immunity. 2000 Dec;1(8):521-2			603594	6308	1	2000		Case:98; Control:107										
137089	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	1	1q25	TNFSF4	171419492	171443094	n	Hikami et al. 2000	11197696				Tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003326.2	Japanese		Tsuchiya N	7292	Hs.181097			Genes and immunity. 2000 Dec;1(8):521-2			603594	6309	1	2000		Case:72; Control:107										
137090	Y	myocardial infarct	CARDIOVASCULAR	CARD	Arteriosclerosis|Genetic Predisposition to Disease	1	1q25	TNFSF4	171419492	171443094		Wang, X.  et al. 2005	15750594				Tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003326.2			CDC GDPinfo	7292	Hs.181097			Nature genetics. 2005 Apr;37(4):365-72	Positional identification of TNFSF4, encoding OX40 ligand, as a gene that influences atherosclerosis susceptibility.		603594	19943	2	2005	We therefore conclude that Tnfsf4 underlies Ath1 in mice and that polymorphisms in its human homolog TNFSF4 increase the risk of myocardial infarction in humans.	Case individuals with myocardial infarct;Control:controls										
137091		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9q33	TNFSF8	116704944	116732591		Ahmed S et al. 2002	11960307				Tumor necrosis factor (ligand) superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001244.2	Japanese	Japan	KGB	944	Hs.494901			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		603875	1173	1	2002	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137092		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9q33	TNFSF8	116704944	116732591		Ahmed S 2004	11960307				Tumor necrosis factor (ligand) superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001244.2	Japanese	Japan	Y Wang	944	Hs.494901			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		603875	1174	1	2004	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137093		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9q33	TNFSF8	116704944	116732591		Ahmed S 2004	11960307				Tumor necrosis factor (ligand) superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001244.2	Japanese	Japan	Y Wang	944	Hs.494901			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		603875	1175	1	2004	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137094		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9q33	TNFSF8	116704944	116732591		Ahmed, S.  et al. 2002	11960307				Tumor necrosis factor (ligand) superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001244.2	Japanese	Japan	CDC GDPinfo	944	Hs.494901			Genes and immunity. 2002 Apr;3(2):96-101	Association study between CD30 and CD30 ligand genes and type 1 diabetes in the Japanese population.		603875	23769	2	2002	In conclusion, we could not find significant association between CD30 or CD30L genes and type 1 diabetes, but (CA)(9) allele in the promotor or T allele of -73T/C in intron 3 in CD30L gene might play a minor role in the pathogenesis of type 1	Case type 1 diabetic patients;Control not specified in abstract										
137095		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	19	19q13.4	TNNI3	60354949	60360858		Ingles, J.  et al. 2005	16199542				Troponin I type 3 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000363.3			CDC GDPinfo	7137	Hs.631588			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		191044	27658	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
137096	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	1	1q32	TNNT2	199594764	199613428		Komamura, K.  et al. 2004	14986170				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2			CDC GDPinfo	7139	Hs.533613			Journal of human genetics. 2004 ;49(3):129-33	The role of a common TNNT2 polymorphism in cardiac hypertrophy		191045	14434	2	2004	In conclusion, TNNT2 deletion allele could be associated with a predisposition to prominent left ventricular hypertrophy.	Case:151 subjects with prominent concentric left ventricular:hypertrophy;Control:987 healthy subjects recruited from medical checkups										
137097		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1q32	TNNT2	199594764	199613428		Torricelli, F.  et al. 2003	14636924				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2		Italy	CDC GDPinfo	7139	Hs.533613			The American journal of cardiology. 2003 Dec;92(11):1358-62	Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.		191045	19947	2	2003	Troponin T mutations had a low prevalence (3.3%, including a newly described Phe110Leu mutation) and were associated with heterogeneous clinical expression and outcome.	Cohort 150 consecutive patients with hypertrophic cardiomyopathy Tuscany 										
137099		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1q32	TNNT2	199594764	199613428		Ackerman, M. J.  et al. 2002	12084606				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2			CDC GDPinfo	7139	Hs.533613			Journal of the American College of Cardiology. 2002 Jun;39(12):2042-8	Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: acomprehensive outpatient perspective.		191045	23770	2	2002	 This finding underscores the profound genetic heterogeneity in HCM. Only 1% of unrelated individuals seen at a tertiary referral center for HCM possessed one of the five malignant mutations that were examined. Routine clinical testing for these specific mutations is of low yield.	Cohort 293 unrelated individuals with HCM seen at the Mayo Clinic in Rochester, Minnesota April 1997 - October 2000 										
137100	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic, Familial	1	1q32	TNNT2	199594764	199613428		Villard, E.  et al. 2005	15769782				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2			CDC GDPinfo	7139	Hs.533613			European heart journal. 2005 Apr;26(8):794-803	Mutation screening in dilated cardiomyopathy:prominent role of the beta myosin heavy chain gene.		191045	23771	2	2005	 We have identified seven mutations in MYH7, one in TNNT2, and none in PLN or in the VCL cardio-specific exon. MYH7 appears as the most frequently mutated gene in our FDCM population (approximately 10%), and mutation carriers present with delayed onset, in contrast to TNNT2.	Cohort 96 indipendent dilated cardiomyopathy cases (54 familial and 42 sporadic) 										
137101		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Disease Progression	1	1q32	TNNT2	199594764	199613428		Van Driest, S. L.  et al. 2002	12473556				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2		Minnesota	CDC GDPinfo	7139	Hs.533613			Circulation. 2002 Dec;106(24):3085-90	Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.		191045	23772	2	2002	 These findings demonstrate the rarity of specific mutations in HCM and challenge the notion of mutation-specific clinical outcomes. Fewer than 2% of the subjects harbored a benign mutation, and those patients with a benign mutation experienced a very serious clinical course.	Cohort 293 unrelated hypertrophic cardiomyopathy patients 										
137102		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1q32	TNNT2	199594764	199613428		Song, L.  et al. 2005	15563892				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2	Chinese	China	CDC GDPinfo	7139	Hs.533613			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):209-16	Mutations profile in Chinese patients with hypertrophic cardiomyopathy.		191045	25721	2	2005	 We confirmed the diversity of mutation profile in different populations and suggest that a global registry of HCM mutations and their phenotypes is necessary to correlate genotype with phenotype.	Cohort 100 independent hypertrophic cardiomyopathy patients with HCM (proband 51, sporadic 49) China 										
137103		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	1	1q32	TNNT2	199594764	199613428		Ingles, J.  et al. 2005	16199542				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2			CDC GDPinfo	7139	Hs.533613			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		191045	27870	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
137105		infertility, male	REPRODUCTION	REP	Infertility, Male	16	16p13.13	TNP2	11269214	11270661		Miyagawa, Y.  et al. 2005	16291974				Transition protein 2 (during histone to protamine replacement)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005425.4			CDC GDPinfo	7142	Hs.513349			Journal of andrology. 2005 Nov-Dec;26(6):779-86	Single-Nucleotide Polymorphisms and Mutation Analyses of the TNP1 and TNP2 Genes of Fertile and Infertile Human Male Populations.		190232	23773	2	2005												
137106	Y	Ehlers-Danlos syndrome	OTHER	OTH	Ehlers-danlos Syndrome	6	6p21.3	TNXB	32116910	32185131		Burch GH et al. 1997	9288108				Tenascin XB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019105.5			KGB	7148	Hs.42853			Nature genetics. 1997 Sep;17(1):104-8	Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.		600985	6141	1	1997												
137108		smoking behavior	CHEMDEPENDENCY	CHEM	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TNXB	32116910	32185131		Fust, G.  et al. 2004	15339882				Tenascin XB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019105.5		Hungary|Iceland	CDC GDPinfo	7148	Hs.42853			International immunology. 2004 Oct;16(10):1507-14	Genetic basis of tobacco smoking: strongassociation of a specific major histocompatibility complex haplotype on chromosome 6 with smoking behavior		600985	25722	2	2004	Considering the documented link between olfactory stimuli and smoking in females, and the presence of a cluster of odorant receptor genes close to the MHC class I region, our findings implicate a potential role of the MHC-linked olfactory receptor genes in the initiation of smoking.	Control:101 healthy subjects;Case:232 coronary artery disease (CAD) patients with defined tobacco smoking habits:Hungary:Cohort:351 Icelandic subjects										
137109		lymphoma	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, B-Cell, Marginal Zone|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone	17	17q21-q22	TOP2A	35798304	35827695		Hellmig, S.  et al. 2005	16139951				Topoisomerase (DNA) II alpha 170kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001067			CDC GDPinfo	7153	Hs.156346			Cancer letters. 2005	Germline variations of the topoisomerase IIalpha gene as risk factors for primary gastric B-cell lymphoma.		126430	19952	2	2005												
137111		dystonia	NEUROLOGICAL	NEUR	Dystonia	9	9q34	TOR1A	131615041	131626262		Grundmann K 2003	12975293				torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113			KGB	1861	Hs.534312			Archives of neurology. 2003 Sep;60(9):1266-70	Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.		605204	2321	1	2003	 Our data underline the wide range of phenotypic variability of the DYT1 mutation. A priori prediction of the mutation carrier status in dystonic patients and genetic counseling of affected families with respect to the clinical manifestation may prove difficult.											
137112		dystonia, early onset primary	NEUROLOGICAL	NEUR	Dystonic Disorders	9	9q34	TOR1A	131615041	131626262		Zorzi, G.  et al. 2002	11921134				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	Italian	Italy	CDC GDPinfo	1861	Hs.534312			Movement disorders. 2002 Mar;17(2):407-8	Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.		128100	19953	2	2002	Our results indicate the role of DYT1 mutation in Italian patients and confirm clinical and genetic heterogeneity of early-onset primary dystonia.	Cohort 30 Italian patients with sporadic, early-onset, primary dystonia 										
137113		dystonia	NEUROLOGICAL	NEUR	Dystonia	9	9q34	TOR1A	131615041	131626262		Grundmann, K.  et al. 2003	12975293				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2			CDC GDPinfo	1861	Hs.534312			Archives of neurology. 2003 Sep;60(9):1266-70	Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.		128100	19954	2	2003	 Our data underline the wide range of phenotypic variability of the DYT1 mutation. A priori prediction of the mutation carrier status in dystonic patients and genetic counseling of affected families with respect to the clinical manifestation may prove difficult.	Cohort 256 patients with different subtypes of dystonia from different movement disorder outpatient clinics Germany 										
137114		dystonia, primary torsion	NEUROLOGICAL	NEUR	Movement Disorders	9	9q34	TOR1A	131615041	131626262		Kabakci, K.  et al. 2004	14872019				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2		Turkey|Germany	CDC GDPinfo	1861	Hs.534312			Neurology. 2004 Feb;62(3):395-400	Mutations in DYT1: extension of the phenotypic andmutational spectrum		128100	19955	2	2004	 In this mixed patient sample, the GAG deletion was rare and in two out of five cases associated with an unusual phenotype. In addition, a novel DYT1 truncating mutation of unknown clinical relevance was found in a putatively unaffected individual. DYT1 exon rearrangements, however, do not seem to be associated with PTD.	Case:197/435/42;Control:812 healthy controls										
137116		dystonia, primary	NEUROLOGICAL	NEUR	Dystonia	9	9q34	TOR1A	131615041	131626262		Im, J. H.  et al. 2004	15465399				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	Japanese	Korea	CDC GDPinfo	1861	Hs.534312			Parkinsonism & related disorders. 2004 Oct;10(7):421-3	DYT1 mutation in Korean primary dystonia patients.		128100	19957	2	2004	Like Japanese patients with DYT1 mutation, axial muscle involvement is notable.	Cohort 162 Korean primary dystonia patients 										
137117		dystonia, early onset primary	NEUROLOGICAL	NEUR	Dystonia	9	9q34	TOR1A	131615041	131626262		Lin, Y. W.  et al. 2005	16198613				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	Taiwanese		CDC GDPinfo	1861	Hs.534312			Parkinsonism & related disorders. 2006 Jan;12(1):15-9	DYT1 mutation in a cohort of Taiwanese primary dystonias.		128100	19959	2	2005	We conclude that  DYT1 mutation is a minor cause of primary dystonias in a cohort of Taiwanese population.											
137118		dystonia, focal	NEUROLOGICAL	NEUR	Dystonic Disorders|Genetic Predisposition to Disease	9	9q34	TOR1A	131615041	131626262		Sibbing, D.  et al. 2003	14581671				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2		France|Germany	CDC GDPinfo	1861	Hs.534312			Neurology. 2003 Oct;61(8):1097-101	Candidate gene studies in focal dystonia.		128100	25723	2	2003	 No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.	Control matched controls;Case:100 German focal idiopathic torsion dystonia patients;Control:100 matched controls;Case:121 French focal idiopathic torsion dystonia patients										
137119		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	9	9q34	TOR1A	131615041	131626262		Shang, H.  et al. 2005	15679701				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2			CDC GDPinfo	1861	Hs.534312			European journal of neurology. 2005 Feb;12(2):131-8	Clinical and molecular genetic evaluation of patients with primary dystonia		128100	25724	2	2005	Our study supports the notion that primary dystonia is a genetically heterogeneous disease.	Cohort 40 patients with primary dystonia 										
137121		Epstein-Barr virus	IMMUNE	IMM	Burkitt Lymphoma|Lymphoma, B-Cell	17	17p13.1	TP53	7505821	7531642		Edwards RH et al. 1994	8107196				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of virology. 1994 Mar;68(3):1309-15	Alterations of the p53 gene in Epstein-Barr virus-associated immunodeficiency-related lymphomas.		191170	6144	1	1994												
137122	Y	Head and neck squamous cell cancer	METABOLIC	MET	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Ko Y et al. 2001	11389067				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2001 Jun;61(11):4398-404	Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue.		191170	6145	1	2001			smoking (tobacco)									
137124	Y	Lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Niklinska W et al. 2001	11374839				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Folia histochemica et cytobiologica. 2001 ;39(2):51-6	Strong association between P53 protein accumulation serum antibodies and gene mutation in non-small cell lung cancer.		191170	6147	1	2001	We conclude that  in the absence of P53-M test result, a reasonably precise prediction of the test can be obtained using TNM stage and results of P53-Abs and P53-PE tests. The prediction can in turn be used to evaluate prognosis of NSCLC patients.											
137125	Y	ovarian carcinoma	CANCER	CAN	Ovarian Neoplasms|DNA Damage	17	17p13.1	TP53	7505821	7531642		Perego P et al. 1996	8564971				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1996 Feb;56(3):556-62	Association between cisplatin resistance and mutation of p53 gene and reduced bax expression in ovarian carcinoma cell systems.		191170	6148	1	1996												
137127		Colorectal Cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms|Neoplasms, Multiple Primary	17	17p13.1	TP53	7505821	7531642		Asakawa H et al. 2001	11729653				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Nippon Shokakibyo Gakkai zasshi The Japanese journal of gastro-enterology. 2001 Nov;98(11):1263-71	Alternations of p53 gene microsatellite instability and proliferation associated antigen Ki-67 in the synchronous multiple colorectal cancers		191170	6150	1	2001	Some synchronous multiple colorectal cancers result from carcinogenesis in which RER genes are involved, as HNPCC does. In the patients with synchronous multiple colorectal cancers, it is clinically important to follow them carefully focusing on multiple metachronous colorectal cancers and multiple organ cancers.											
137128	Y	smoking	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	17	17p13.1	TP53	7505821	7531642		Hsieh LL et al. 2001	11532872				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Taiwan	KGB	7157	Hs.408312	smoking		Carcinogenesis. 2001 Sep;22(9):1497-503	Characteristics of mutations in the p53 gene in oral squamous cell carcinoma associated with betel quid chewing and cigarette smoking in Taiwanese.		191170	6151	1	2001												
137129	Y	sensitivity to TZT-1027	CANCER	CAN	Carcinoma, Renal Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Kidney Neoplasms|DNA Damage	17	17p13.1	TP53	7505821	7531642		Natsume T et al. 2001	11466694				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer. 2001 Jul;92(2):386-94	Association of p53 gene mutations with sensitivity to TZT-1027 in patients with clinical lung and renal carcinoma.		191170	6152	1	2001	 We found evidence to suggest that TZT-1027 was influenced less by the p53 status of specimens than DNA-damaging agents. Therefore, TZT-1027 is expected to show similar antitumor activity against tumors with a loss of p53 function as well as those with normal function of p53 in clinical fields.											
137130	Y	tumor proliferation and other prognostic indicators	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast	17	17p13.1	TP53	7505821	7531642		Bhargava V et al. 1994	8058709				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Modern pathology. 1994 Apr;7(3):361-8	The association of p53 immunopositivity with tumor proliferation and other prognostic indicators in breast cancer.		191170	6153	1	1994												
137131	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	17	17p13.1	TP53	7505821	7531642		Noffsinger AE et al. 2001	11737306				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Histopathology. 2001 Nov;39(5):482-92	A unique basal pattern of p53 expression in ulcerative colitis is associated with mutation in the p53 gene.		191170	6154	1	2001	 The basal pattern of p53 expression is associated with mutation in the p53 gene, and appears to be an early change in a subgroup of ulcerative colitis patients. The significance of this pattern of immunoreactivity and the mechanism by which it develops are discussed.											
137132	Y	tumour progression	CANCER	CAN	Carcinoma in Situ|Carcinoma, Squamous Cell|Skin Neoplasms|Precancerous Conditions|Postoperative Complications	17	17p13.1	TP53	7505821	7531642		Stark LA et al. 1994	7917913				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			British journal of cancer. 1994 Oct;70(4):662-7	Accumulation of p53 is associated with tumour progression in cutaneous lesions of renal allograft recipients.		191170	6155	1	1994												
137134		T-cell acute lymphoblastic leukemia	OTHER	OTH	Leukemia-Lymphoma, Adult T-Cell|Chromosome Deletion|Recurrence	17	17p13.1	TP53	7505821	7531642		Hsiao MH et al. 1994	8180387				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	relapse		Blood. 1994 May;83(10):2922-30	Nonhereditary p53 mutations in T-cell acute lymphoblastic leukemia are associated with the relapse phase.		191170	6157	1	1994												
137135	Y	metastases	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642		Bertorelle R et al. 1995	7694948				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The American journal of surgical pathology. 1995 Apr;19(4):463-71	Association of p53 gene and protein alterations with metastases in colorectal cancer.		191170	6158	1	1995												
137136	Y	metastatic progression and poor survival	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	17	17p13.1	TP53	7505821	7531642		Uhlman DL et al. 1994	8089867				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of the National Cancer Institute. 1994 Oct;86(19):1470-5	Association of immunohistochemical staining for p53 with metastatic progression and poor survival in patients with renal cell carcinoma.		191170	6159	1	1994	 Positive p53 immunostaining in renal cell carcinoma is associated with metastatic disease and poor survival in patients with early-stage disease. IMPLICATIONS: In renal cell carcinoma, mutations of the p53 gene may allow or contribute to the acquisition of metastatic potential.											
137138	Y	mucosa-associated lymphoid tissue lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell, Marginal Zone|Intestinal Neoplasms|Stomach Neoplasms|Thyroid Neoplasms|Salivary Gland Neoplasms|Disease Progression	17	17p13.1	TP53	7505821	7531642		Du M et al. 1995	8541549				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Blood. 1995 Dec;86(12):4587-93	The accumulation of p53 abnormalities is associated with progression of mucosa-associated lymphoid tissue lymphoma.		191170	6161	1	1995												
137140	Y	hepatitis C virus infection	INFECTION	INF	Hepatitis C	17	17p13.1	TP53	7505821	7531642		Okada F et al. 2001	11566488				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer letters. 2001 Oct;172(2):137-42	A p53 polymorphism associated with increased risk of hepatitis C virus infection.		191170	6163	1	2001	We found no significant statistical difference between the p53 polymorphism and other genotypes of HCV (2a, 2b and others). On the basis of our study we believe there exists a significant correlation between male homozygotes for p53Pro with HCV type 1b infection.	Control:232 noninfected control subjects;Case:75 cases with hepatitis C virus infection:Japan										
137141	N	Hepatitis C virus infection associated with human hepatocellular carcinoma	CANCER	CAN	Hepatitis B|Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms	17	17p13.1	TP53	7505821	7531642	n	Pontisso P et al. 1998	9781942				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Caucasian patients		KGB	7157	Hs.408312			Cancer. 1998 Oct;83(8):1489-94	Hepatitis C virus infection associated with human hepatocellular carcinoma: lack of correlation with p53 abnormalities in Caucasian patients.		191170	6164	1	1998	 The results of this study indicate that HCV may contribute to liver tumor development during the early stages of carcinogenesis, whereas p53 gene mutations were detected only in 2 of 15 patients in this cohort.											
137142	Y	gastric cancer	CARDIOVASCULAR	CARD	Stomach Neoplasms	17	17p13.1	TP53	7505821	7531642		Rugge M et al. 2000	11040944				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Molecular pathology. 2000 Aug;53(4):207-10	The p53 gene in patients under the age of 40 with gastric cancer: mutation rates are low but are associated with a cardiac location.		191170	6165	1	2000	 These findings show that, unlike what has been consistently demonstrated in the general population, p53 mutations are uncommon in gastric cancer occurring in young patients, and in such patients, p53 alterations are significantly associated with the cardiac location.											
137144		colorectal carcinoma	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642		Clausen OP et al. 1998	9917132				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	DNA ploidy status		Diagnostic molecular pathology. 1998 Aug;7(4):215-23	Association of p53 accumulation with TP53 mutations loss of heterozygosity at 17p13 and DNA ploidy status in 273 colorectal carcinomas.		191170	6167	1	1998												
137145		clinicopathological features	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Tagawa M et al. 1998	9652798				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer letters. 1998 Jun;128(1):93-9	Prognostic value of mutations and a germ line polymorphism of the p53 gene in non-small cell lung carcinoma: association with clinicopathological features.		191170	6168	1	1998												
137146		clinicopathological parameters	CANCER	CAN	Carcinoma, Medullary|Carcinoma, Intraductal, Noninfiltrating|Carcinoma, Lobular|Carcinoma, Papillary|Breast Neoplasms|Carcinoma, Ductal, Breast|Lymphatic Metastasis	17	17p13.1	TP53	7505821	7531642		Seitz S et al. 2001	11439364				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The Journal of pathology. 2001 Jul;194(3):318-26	Detailed deletion mapping in sporadic breast cancer at chromosomal region 17p13 distal to the TP53 gene: association with clinicopathological parameters.		191170	6169	1	2001												
137147	Y	decreased chemosensitivity	OTHER	OTH	Glioma|Brain Neoplasms	17	17p13.1	TP53	7505821	7531642		Iwadate Y et al. 1996	8682593				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			International journal of cancer. Journal international du cancer. 1996 Jun;69(3):236-40	Association of p53 gene mutation with decreased chemosensitivity in human malignant gliomas.		191170	6170	1	1996												
137148		carcinomas of the thyroid gland	CANCER	CAN	Carcinoma|Adenocarcinoma, Papillary|Thyroid Neoplasms	17	17p13.1	TP53	7505821	7531642		Ito T et al. 1992	1737400				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1992 Mar;52(5):1369-71	Unique association of p53 mutations with undifferentiated but not with differentiated carcinomas of the thyroid gland.		191170	6171	1	1992												
137149		breast cancer	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Soong R et al. 1997	9421363				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	poor survival		International journal of cancer. Journal international du cancer. 1997 Dec;74(6):642-7	Detection of p53 gene mutation by rapid PCR-SSCP and its association with poor survival in breast cancer.		191170	6172	1	1997												
137150	Y	brain tumors	CANCER	CAN	Glioma|Brain Neoplasms|Meningeal Neoplasms|Meningioma	17	17p13.1	TP53	7505821	7531642		Chen P et al. 1995	7664239				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer genetics and cytogenetics. 1995 Jul;82(2):106-15	Constitutional p53 mutations associated with brain tumors in young adults.		191170	6173	1	1995												
137151	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	17	17p13.1	TP53	7505821	7531642		Romkes M et al. 1996	8640913				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Carcinogenesis. 1996 May;17(5):1057-62	Association of low CYP3A activity with p53 mutation and CYP2D6 activity with Rb mutation in human bladder cancer.		191170	6174	1	1996												
137152	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Maniwa Y et al. 2001	11502663				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Chest. 2001 Aug;120(2):589-94	Association of p53 gene mutation and telomerase activity in resectable non-small cell lung cancer.		191170	6175	1	2001	 p53 gene mutation and high telomerase activity cooperate to induce tumorigenesis and low-grade differentiation in NSCLC. Simultaneous occurrence of p53 gene mutation and high telomerase activity may be relevant to the grade of malignancy in NSCLC.											
137153		ovarian carcinoma	CANCER	CAN	Ovarian Neoplasms	17	17p13.1	TP53	7505821	7531642		Kupryjanczyk J et al. 2000	10682669				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			British journal of cancer. 2000 Feb;82(3):579-83	Spontaneous apoptosis in ovarian carcinomas: a positive association with p53 gene mutation is dependent on growth fraction.		191170	6176	1	2000												
137154	Y	increased lung cancer risk	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Miller DP et al. 2002	12019159				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2002 May;62(10):2819-23	Combinations of the variant genotypes of GSTP1 GSTM1 and p53 are associated with an increased lung cancer risk.		191170	6177	1	2002												
137155		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17p13.1	TP53	7505821	7531642		Rosenmann H et al. 2003	12648751				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Neuroscience letters. 2003 Apr;340(1):29-32	An association study of the codon 72 polymorphism in the pro-apoptotic gene p53 and Alzheimer's disease.		191170	6178	1	2003												
137156	Y	non-small cell lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Neoplasms, Squamous Cell|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Ahrendt SA et al. 2000	10811129				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2000 May;60(9):2488-91	Microsatellite instability at selected tetranucleotide repeats is associated with p53 mutations in non-small cell lung cancer.		191170	6179	1	2000												
137157	Y	albuminuria among aboriginal Australians	METABOLIC	MET	Albuminuria	17	17p13.1	TP53	7505821	7531642		McDonald SP et al. 2002	11856771				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Australia	KGB	7157	Hs.408312			Journal of the American Society of Nephrology. 2002 Mar;13(3):677-83	The p53Pro72Arg polymorphism is associated with albuminuria among aboriginal Australians.		191170	6180	1	2002												
137158	Y	Xeroderma pigmentosum	OTHER	OTH	Melanoma|Skin Neoplasms|Xeroderma Pigmentosum	17	17p13.1	TP53	7505821	7531642		Spatz A et al. 2001	11289118				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2001 Mar;61(6):2480-6	Association between DNA repair-deficiency and high level of p53 mutations in melanoma of Xeroderma pigmentosum.		191170	6181	1	2001												
137159	Y	bladder cancer	CANCER	CAN	Carcinoma, Squamous Cell|Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	17	17p13.1	TP53	7505821	7531642		Fujimoto K et al. 1992	1540947				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1992 Mar;52(6):1393-8	Frequent association of p53 gene mutation in invasive bladder cancer.		191170	6182	1	1992												
137160	Y	colorectal cancers	CANCER	CAN	Colorectal Neoplasms|Liver Neoplasms|Neovascularization, Pathologic	17	17p13.1	TP53	7505821	7531642		Kern A et al. 2002	12118317				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	liver metastases		International journal of oncology. 2002 Aug;21(2):243-9	Association of p53 mutations microvessel density and neoangiogenesis in pairs of colorectal cancers and corresponding liver metastases.		191170	6183	1	2002												
137161	Y	pancreatic adenocarcinoma	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms	17	17p13.1	TP53	7505821	7531642		Nakamori S et al. 1995	7730141				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	short survival		Japanese journal of cancer research. 1995 Feb;86(2):174-81	Association of p53 gene mutations with short survival in pancreatic adenocarcinoma.		191170	6184	1	1995												
137162	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642		Hamelin R et al. 1994	8276207				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	short survival		Gastroenterology. 1994 Jan;106(1):42-8	Association of p53 mutations with short survival in colorectal cancer.		191170	6185	1	1994	 Combined with staging, direct monitoring of p53 mutation improves prognostic accuracy for colorectal cancer.											
137164	Y	smoking	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	17	17p13.1	TP53	7505821	7531642		Brennan JA et al. 1995	7854378				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	smoking		The New England journal of medicine. 1995 Mar;332(11):712-7	Association between cigarette smoking and mutation of the p53 gene in squamous-cell carcinoma of the head and neck.		191170	6187	1	1995	In our study, a history of tobacco and alcohol use was associated with a high frequency of p53 mutations in patients with squamous-cell carcinoma of the head and neck. Preliminary evidence linked cigarette smoking to p53 mutations at nonendogenous mutation sites. Our findings suggest a role for tobacco in the molecular progression of squamous-cell carcinoma of the head and neck and support the epidemiologic evidence that abstinence from smoking is important to prevent head and neck cancer.											
137165	Y	malignant cystosarcoma phyllodes and soft tissue sarcoma	OTHER	OTH	Fibroadenoma|Sarcoma|Breast Neoplasms|Phyllodes Tumor|Soft Tissue Neoplasms|Neoplasms, Second Primary|Neoplasm Metastasis|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Bot FJ et al. 1998	10207667				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Diagnostic molecular pathology. 1998 Dec;7(6):295-301	Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma.		191170	6188	1	1998												
137166	Y	progression of a prostate carcinoma	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Effert PJ et al. 1992	1347085				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The Journal of urology. 1992 Mar;147(3 Pt 2):789-93	Alterations of the P53 gene are associated with the progression of a human prostate carcinoma.		191170	6189	1	1992												
137167	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17p13.1	TP53	7505821	7531642		Buller RE et al. 2001	11309330				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Clinical cancer research. 2001 Apr;7(4):831-8	The p53 mutational spectrum associated with BRCA1 mutant ovarian cancer.		191170	6190	1	2001	 Ovarian cancers containing somatic or germ-line BRCA1 mutations are uniformly accompanied by p53 dysfunction. This finding offers additional support to observations regarding the importance of p53/BRCA1 interactions in ovarian carcinogenesis.											
137168		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Oyama T et al. 1997	9066583				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Anticancer research. 1997 Jan-Feb;17(1B):577-81	N-acetylation polymorphism in patients with lung cancer and its association with p53 gene mutation.		191170	6191	1	1997												
137170	N	cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642	n	Klaes R et al. 1999	10023783				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of molecular medicine (Berlin, Germany). 1999 Feb;77(2):299-302	No evidence of p53 allele-specific predisposition in human papillomavirus-associated cervical cancer.		191170	6193	1	1999												
137171	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms	17	17p13.1	TP53	7505821	7531642		Conde AR et al. 1999	10621833				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Portuguese		KGB	7157	Hs.408312			Molecular pathology. 1999 Jun;52(3):131-4	Association of p53 genomic instability with the glutathione S-transferase null genotype in gastric cancer in the Portuguese population.		191170	6194	1	1999	 This study does not support the hypothesis of an association between LOH in the p53 gene and the GSTM1 null genotype, but suggests that the GSTM1 null genotype might influence p53 genomic instability.											
137172		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasm Metastasis	17	17p13.1	TP53	7505821	7531642		Sood AK et al. 1999	10499623				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	Distant metastases		Clinical cancer research. 1999 Sep;5(9):2485-90	Distant metastases in ovarian cancer: association with p53 mutations.		191170	6195	1	1999												
137173	Y	smoking	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Conway K et al. 2002	11929815				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		North Carolina	KGB	7157	Hs.408312	smoking		Cancer research. 2002 Apr;62(7):1987-95	Prevalence and spectrum of p53 mutations associated with smoking in breast cancer.		191170	6196	1	2002												
137174	Y	increased aggressiveness	CANCER	CAN	Head and Neck Neoplasms|Neoplasm Invasiveness|Neoplasm Recurrence, Local	17	17p13.1	TP53	7505821	7531642		Gallo O et al. 1996	9816336				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Clinical cancer research. 1996 Sep;2(9):1577-82	Loss of p53 gene mutation after irradiation is associated with increased aggressiveness in recurring head and neck cancer.		191170	6197	1	1996												
137175	Y	malignant myeloid disorders	OTHER	OTH	Leukemia, Myeloid|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Myelodysplastic Syndromes|Chromosome Deletion|Translocation, Genetic|Acute Disease	17	17p13.1	TP53	7505821	7531642		Wang P et al. 1997	9365836				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Genes, chromosomes & cancer. 1997 Nov;20(3):282-91	dic(5;17): a recurring abnormality in malignant myeloid disorders associated with mutations of TP53.		191170	6198	1	1997												
137176	Y	breast carcinoma	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Trejo-Becerril C et al. 2000	11024482			intron	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Mutation research. 2000 Sep;452(2):231-6	Immunohistochemical expression of p53 in breast carcinoma is associated with the intron 1 BglII polymorphism of the p53 gene.		191170	6199	1	2000												
137177		oral squamous carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	17	17p13.1	TP53	7505821	7531642		Kannan K et al. 1999	10568819				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		India	KGB	7157	Hs.408312			International journal of oncology. 1999 Dec;15(6):1133-6	Low incidence of p53 mutations in betel quid and tobacco chewing-associated oral squamous carcinoma from India.		191170	6200	1	1999												
137179		conversion from colorectal adenoma to early carcinoma	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Carcinoma|Colorectal Neoplasms|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Kikuchi-Yanoshita R et al. 1992	1319835				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1992 Jul;52(14):3965-71	Genetic changes of both p53 alleles associated with the conversion from colorectal adenoma to early carcinoma in familial adenomatous polyposis and non-familial adenomatous polyposis patients.		191170	6202	1	1992												
137180	Y	skin carcinomas	CANCER	CAN	Carcinoma|Skin Neoplasms|Xeroderma Pigmentosum|DNA Damage	17	17p13.1	TP53	7505821	7531642		Soufir N et al. 2000	11078762				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Africa, Northern	KGB	7157	Hs.408312			Journal of the National Cancer Institute. 2000 Nov;92(22):1841-7	Association between INK4a-ARF and p53 mutations in skin carcinomas of xeroderma pigmentosum patients.		191170	6203	1	2000	 We have demonstrated for the first time the occurrence of UV radiation-induced mutations in INK4a-ARF in XP-associated skin carcinomas. The simultaneous inactivation of p53 and INK4a-ARF may be linked to the genetic instability caused by XP and could be advantageous for tumor progression.											
137181		cancer predisposition and susceptibility	CANCER	CAN	Breast Neoplasms|Gastrointestinal Neoplasms|Chromosome Deletion|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Peller S et al. 1995	8534372			intron	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			DNA and cell biology. 1995 Dec;14(12):983-90	A novel polymorphism in intron 6 of the human p53 gene: a possible association with cancer predisposition and susceptibility.		191170	6204	1	1995												
137182	Y	tumor progression of BCR/ABL negative chronic myeloproliferative disorders	CANCER	CAN	Myeloproliferative Disorders	17	17p13.1	TP53	7505821	7531642		Gaidano G et al. 1993	8321046				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Leukemia. 1993 Jul;7(7):946-53	Mutations in the P53 and RAS family genes are associated with tumor progression of BCR/ABL negative chronic myeloproliferative disorders.		191170	6205	1	1993												
137183	N	nasopharyngeal carcinomas	CANCER	CAN	Nasopharyngeal Neoplasms	17	17p13.1	TP53	7505821	7531642	n	Chang KP et al. 2002	12439172				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The Laryngoscope. 2002 Nov;112(11):2015-9	A lack of association between p53 mutations and recurrent nasopharyngeal carcinomas refractory to radiotherapy.		191170	6206	1	2002	 This study shows that p53 mutation is an infrequent event and may have no essential role in recurrent nasopharyngeal carcinomas.											
137185		rhabdomyosarcoma	CANCER	CAN	Rhabdomyosarcoma	17	17p13.1	TP53	7505821	7531642		Ayan I et al. 1997	9065719				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of pediatric hematology/oncology. 1997 Jan-Feb;19(1):48-53	Immunohistochemical detection of p53 protein in rhabdomyosarcoma: association with clinicopathological features and outcome.		191170	6208	1	1997	 The nuclear p53 immunoreaction rate is low in RMS, but p53 expression appears to correlate with poor prognosis.											
137186		risk factors and tumor characteristics	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Simao TA et al. 2002	12209590				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Brazil	KGB	7157	Hs.408312			International journal of cancer. Journal international du cancer. 2002 Sep;101(1):69-73	TP53 mutations in breast cancer tumors of patients from Rio de Janeiro Brazil: association with risk factors and tumor characteristics.		191170	6209	1	2002												
137187		areca quid chewing-associated oral squamous cell carcinomas	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	17	17p13.1	TP53	7505821	7531642		Kuo MY et al. 1999	10226945				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Taiwan	KGB	7157	Hs.408312			Journal of oral pathology & medicine. 1999 May;28(5):221-5	Infrequent p53 mutations in patients with areca quid chewing-associated oral squamous cell carcinomas in Taiwan.		191170	6210	1	1999												
137188		gliomas	CANCER	CAN	Neoplasms|Glioma|Astrocytoma|Brain Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhou XP et al. 1999	10589545				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Annals of neurology. 1999 Dec;46(6):913-6	Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Francaise.		191170	6211	1	1999												
137190		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Levesque MA et al. 1994	7524772				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Breast cancer research and treatment. 1994 ;30(2):179-95	Quantitative analysis of mutant p53 protein in breast tumor cytosols and study of its association with other biochemical prognostic indicators in breast cancer.		191170	6213	1	1994												
137191	Y	betel-quid chewing	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	17	17p13.1	TP53	7505821	7531642		Chiba I et al. 1998	9714051				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Sri Lanka	KGB	7157	Hs.408312			International journal of cancer. Journal international du cancer. 1998 Sep;77(6):839-42	Characteristics of mutations in the p53 gene of oral squamous-cell carcinomas associated with betel-quid chewing in Sri Lanka.		191170	6214	1	1998												
137192		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17p13.1	TP53	7505821	7531642		Wang-Gohrke S et al. 1999	10487631			intron	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			British journal of cancer. 1999 Sep;81(1):179-83	Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations.		191170	6215	1	1999												
137193	Y	aggressive behavior of chondrosarcoma	PSYCH	PSY	Chondrosarcoma|Bone Neoplasms	17	17p13.1	TP53	7505821	7531642		Oshiro Y et al. 1998	9840532				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer. 1998 Dec;83(11):2324-34	Altered p53 is associated with aggressive behavior of chondrosarcoma: a long term follow-up study.		191170	6216	1	1998	 Overexpression or alteration of the p53 gene is an important predictor of aggressive clinical behavior in chondrosarcoma of bone.											
137194	Y	smoking	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	17	17p13.1	TP53	7505821	7531642		Mizobuchi S et al. 2000	11185887				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	smoking		Japanese journal of clinical oncology. 2000 Oct;30(10):423-8	Association between p53 immunostaining and cigarette smoking in squamous cell carcinoma of the esophagus.		191170	6217	1	2000	 Our study suggests that one of the molecular targets of cigarette smoke is the p53 gene. The pattern of p53 point mutations involved a wide range of base-pair changes.											
137195	Y	oesophageal squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis	17	17p13.1	TP53	7505821	7531642		Uchida S et al. 1998	9635853				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			British journal of cancer. 1998 May;77(10):1704-9	In oesophageal squamous cell carcinoma vascular endothelial growth factor is associated with p53 mutation advanced stage and poor prognosis.		191170	6218	1	1998												
137197	Y	squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Chromosome Disorders|Chromosome Aberrations|Aneuploidy|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Edington KG et al. 1995	7646764				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Molecular carcinogenesis. 1995 Aug;13(4):254-65	Cellular immortality: a late event in the progression of human squamous cell carcinoma of the head and neck associated with p53 alteration and a high frequency of allele loss.		191170	6220	1	1995												
137198	N	adult squamous cell carcinoma	CANCER	CAN	Neoplasms|Carcinoma, Squamous Cell	17	17p13.1	TP53	7505821	7531642	n	Waber PG et al. 1993	8261417				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1993 Dec;53(24):6028-30	Infrequency of MDM2 gene amplification in pediatric solid tumors and lack of association with p53 mutations in adult squamous cell carcinomas.		191170	6221	1	1993												
137199	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Lymphatic Metastasis	17	17p13.1	TP53	7505821	7531642		Eastham JA et al. 1995	9815901				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Clinical cancer research. 1995 Oct;1(10):1111-8	Association of p53 mutations with metastatic prostate cancer.		191170	6222	1	1995												
137200	N	soft tissue sarcomas	OTHER	OTH	Sarcoma	17	17p13.1	TP53	7505821	7531642	n	Nordsmark M et al. 2001	11308256				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			British journal of cancer. 2001 Apr;84(8):1070-5	Hypoxia in human soft tissue sarcomas: adverse impact on survival and no association with p53 mutations.		191170	6223	1	2001												
137201	Y	breast cancer by the age of 50 years	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Wang-Gohrke S et al. 2002	11927843			intron	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Germany	KGB	7157	Hs.408312			Pharmacogenetics. 2002 Apr;12(3):269-72	Intron 3 16 bp duplication polymorphism of p53 is associated with an increased risk for breast cancer by the age of 50 years.		191170	6224	1	2002												
137202		Kaposi's sarcoma	CANCER	CAN	AIDS-Related Opportunistic Infections|Sarcoma, Kaposi|Skin Neoplasms	17	17p13.1	TP53	7505821	7531642		Li JJ et al. 1997	9261472				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The American Journal of dermatopathology. 1997 Aug;19(4):373-8	Expression and mutation of the tumor suppressor gene p53 in AIDS-associated Kaposi's sarcoma.		191170	6225	1	1997												
137203		longstanding ulcerative colitis	OTHER	OTH	Carcinoma|Colorectal Neoplasms|Colitis, Ulcerative	17	17p13.1	TP53	7505821	7531642		Chaubert P et al. 1994	8160776				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The American journal of pathology. 1994 Apr;144(4):767-75	K-ras mutations and p53 alterations in neoplastic and nonneoplastic lesions associated with longstanding ulcerative colitis.		191170	6226	1	1994												
137204		hepatocellular carcinomas	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	17	17p13.1	TP53	7505821	7531642		Rashid A et al. 1999	10389978				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		China	KGB	7157	Hs.408312			British journal of cancer. 1999 Apr;80(2-Jan):59-66	Genetic alterations in hepatocellular carcinomas: association between loss of chromosome 4q and p53 gene mutations.		191170	6227	1	1999												
137205		medical history histopathology and environmental exposures	CANCER	CAN	Pancreatic Neoplasms|Diabetes Complications	17	17p13.1	TP53	7505821	7531642		Slebos RJ et al. 2000	11097231				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1223-32	K-ras and p53 in pancreatic cancer: association with medical history histopathology and environmental exposures in a population-based study.		191170	6228	1	2000												
137206		activation of the c-K-ras-2 protooncogene	OTHER	OTH	Adenocarcinoma|Endometrial Neoplasms|Precancerous Conditions|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Enomoto T et al. 1993	8385572				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1993 Apr;53(8):1883-8	Alterations of the p53 tumor suppressor gene and its association with activation of the c-K-ras-2 protooncogene in premalignant and malignant lesions of the human uterine endometrium.		191170	6229	1	1993												
137207		non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		de Anta JM et al. 1997	9416838				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Spanish	Poland|Spain	KGB	7157	Hs.408312	poor prognosis		Oncogene. 1997 Dec;15(24):2951-8	TP53 mutational pattern in Spanish and Polish non-small cell lung cancer patients: null mutations are associated with poor prognosis.		191170	6230	1	1997												
137209	Y	ring sideroblasts	OTHER	OTH	Anemia, Refractory|Anemia, Sideroblastic|Inversion, Chromosome	17	17p13.1	TP53	7505821	7531642		Lazarevic V et al. 2002	12165459				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer genetics and cytogenetics. 2002 Jul;136(1):86-9	Refractory anemia with ring sideroblasts associated with i(17q) and mutation of the TP53 gene.		191170	6232	1	2002												
137210	N	aflatoxin exposure	OTHER	OTH	Liver Neoplasms	17	17p13.1	TP53	7505821	7531642	n	Hsieh DP et al. 1995	7664937	AGG to AGT transversion at codon 249 of the p53 gene			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Food additives and contaminants. 1995 May-Jun;12(3):421-4	Recent aflatoxin exposure and mutation at codon 249 of the human p53 gene: lack of association.		191170	6233	1	1995												
137211		lymphomas of mucosa-associated lymphoid tissue.	CANCER	CAN	Lymphoma, B-Cell, Marginal Zone	17	17p13.1	TP53	7505821	7531642		Peng H et al. 1996	8579126				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The American journal of pathology. 1996 Feb;148(2):643-8	Replication error phenotype and p53 gene mutation in lymphomas of mucosa-associated lymphoid tissue.		191170	6234	1	1996												
137212		breast cancer	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Tsuda H et al. 1994	7910151				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			International journal of cancer. Journal international du cancer. 1994 May;57(4):498-503	Association among p53 gene mutation nuclear accumulation of the p53 protein and aggressive phenotypes in breast cancer.		191170	6235	1	1994												
137213	Y	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642	0.012	Gemignani et al., 2004	14647431	16bp insertion in intron 3	associated levels of TP53 mRNA	block deletion	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Spanish		GAN (IARC) and GRG (University of Pisa)	7157	Hs.408312			Oncogene. 2004 Mar;23(10):1954-6	A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.		191170	6236	1	2004		Case:374; Control:322										
137214		glaucoma	VISION	VIS	Glaucoma, Open-Angle	17	17p13.1	TP53	7505821	7531642		Tassone F 2004	15060108			haplotype	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of medical genetics. 2004 Apr;41(4):296-8	Primary open angle glaucoma is associated with a specific p53 gene haplotype.		191170	6237	1	2004												
137215		Restenosis	OTHER	OTH	Coronary Restenosis	17	17p13.1	TP53	7505821	7531642		Zee RY 2004	14740296			haplotype	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Human genetics. 2004 Mar;114(4):386-90	TP53 haplotype-based analysis and incidence of post-angioplasty restenosis.		191170	6238	1	2004												
137217		cervical carcinoma	CANCER	CAN	Carcinoma|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Oh MJ 2004	14670624				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer letters. 2004 Jan;203(1):107-12	Mutant p53 protein in the serum of patients with cervical carcinoma: correlation with the level of serum epidermal growth factor receptor and prognostic significance.		191170	6240	1	2004												
137218		lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Rodin SN 2004	14698424				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Mutation research. 2004 Jan;545(2-Jan):141-4; author reply 145-6; discussion 147	On the excess of G --> T transversions in the p53 gene in lung cancer cell lines. Reply to Pfeifer and Hainaut.		191170	6241	1	2004												
137220		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	17	17p13.1	TP53	7505821	7531642		Schneider-Stock R 2004	15039212	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The American journal of pathology. 2004 Apr;164(4):1233-41	Retention of the arginine allele in codon 72 of the p53 gene correlates with poor apoptosis in head and neck cancer.		191170	6243	1	2004	We conclude that  apoptosis is correlated with the allelic status of codon 72 in SCCHN. Homozygous proline 72 appears to be an important regulator of apoptosis via the Fas/FasL pathway in SCCHN.											
137221		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local	17	17p13.1	TP53	7505821	7531642		Bull SB 2004	14701769				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of clinical oncology. 2004 Jan;22(1):86-96	The combination of p53 mutation and neu/erbB-2 amplification is associated with poor survival in node-negative breast cancer.		191170	6244	1	2004	 Evaluation of tumors for p53 mutations may be beneficial to identify women at higher risk of disease recurrence and death when the tumor has neu/erbB-2 amplification, but in the absence of neu/erbB-2 amplification, the presence of p53 mutation may not provide additional independent prognostic information.											
137222		breast cancer	CANCER	CAN	Breast Neoplasms|Chromosome Aberrations|Chromosomal Instability|Disease Progression	17	17p13.1	TP53	7505821	7531642		Jong YJ 2004	14697642				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Taiwanese		KGB	7157	Hs.408312			Cancer genetics and cytogenetics. 2004 Jan;148(1):55-65	Chromosomal comparative genomic hybridization abnormalities in early- and late-onset human breast cancers: correlation with disease progression and TP53 mutations.		191170	6245	1	2004												
137223		breast cancer	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Lai H 2004	14997055				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Florida	KGB	7157	Hs.408312			Breast cancer research and treatment. 2004 Jan;83(1):57-66	Spectrum of p53 tumor suppressor gene mutations and breast cancer survival.		191170	6246	1	2004	These findings indicate that not just p53 mutation per se but the full spectrum (i.e., different types, locations, and numbers) of p53 mutation needs to be examined when it is used as a prognostic marker of survival in breast cancer patients.											
137225		Li-Fraumeni and related syndrome	CANCER	CAN	Neoplasms|Li-Fraumeni Syndrome	17	17p13.1	TP53	7505821	7531642		Olivier M 2003	14583457				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2003 Oct;63(20):6643-50	Li-Fraumeni and related syndromes: correlation between tumor type, family structure~~~ and TP53 genotype.		191170	6248	1	2003												
137226		oral cancer	CANCER	CAN	Mouth Neoplasms	17	17p13.1	TP53	7505821	7531642		Kietthubthew S 2003	14507241				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Thailand	KGB	7157	Hs.408312			Asian Pacific journal of cancer prevention. 2003 Jul-Sep;4(3):209-14	The p53 codon 72 polymorphism and risk of oral cancer in Southern Thailand.		191170	6249	1	2003												
137227	Y	lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Irarrazabal CE 2003	12919725				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Chile	KGB	7157	Hs.408312			Toxicology letters. 2003 Sep;144(1):69-76	Chilean pilot study on the risk of lung cancer associated with codon 72 polymorphism in the gene of protein p53.		191170	6250	1	2003												
137228		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	17	17p13.1	TP53	7505821	7531642		Medina PP 2003	12917199				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of homologous recombination gene polymorphisms in lung cancer patients reveals an association of the NBS1-185Gln variant and p53 gene mutations.		191170	6251	1	2003	Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.	Cohort 109 lung cancer patients	smoking (tobacco)									
137229	Y	colorectal adenocarcinomas	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Chromosome Aberrations	17	17p13.1	TP53	7505821	7531642		Leslie A 2003	12907646				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 2003 Aug;63(15):4656-61	Mutations of APC, K-ras~~~ and p53 are associated with specific chromosomal aberrations in colorectal adenocarcinomas.		191170	6252	1	2003												
137230		nasopharyngeal carcinoma.	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Tiwawech D 2003	12893432				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Thailand	KGB	7157	Hs.408312			Cancer letters. 2003 Jul;198(1):69-75	The p53 codon 72 polymorphism in Thai nasopharyngeal carcinoma.		191170	6253	1	2003												
137231		childhood B-cell non-Hodgkin's lymphoma	IMMUNE	IMM	Lymphoma, B-Cell	17	17p13.1	TP53	7505821	7531642		Klumb CE 2003	12890146				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			European journal of haematology. 2003 Aug;71(2):81-90	DNA sequence profile of TP53 gene mutations in childhood B-cell non-Hodgkin's lymphomas: prognostic implications.		191170	6254	1	2003	 Our data suggest that some types of mutants can alter the protein distinctly and may be associated with a more aggressive phenotype. In addition, the impact of TP53 mutations on response to therapy may also be influenced by disruption of other genes.											
137233		head and neck squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	17	17p13.1	TP53	7505821	7531642		Bradford CR 2003	12884349				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312	cisplatin sensitivity		Head & neck. 2003 Aug;25(8):654-61	P53 mutation correlates with cisplatin sensitivity in head and neck squamous cell carcinoma lines.		191170	6256	1	2003	 These in vitro data support a role for mutation of the p53 tumor suppressor gene as a marker for response to cisplatin in HNSCC.											
137234		non-small-cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Ahrendt SA 2003	12837832				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of the National Cancer Institute. 2003 Jul;95(13):961-70	p53 mutations and survival in stage I non-small-cell lung cancer: results of a prospective study.		191170	6257	1	2003	 Tumor p53 mutations are a statistically significant predictor of poor outcome in patients with stage I NSCLC.											
137236		smoking	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Hwang SJ 2003	12802680				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Human genetics. 2003 Aug;113(3):238-43	Lung cancer risk in germline p53 mutation carriers: association between an inherited cancer predisposition, cigarette smoking~~~ and cancer risk.		191170	6259	1	2003												
137237	Y	hepatitis C virus infection	INFECTION	INF	Hepatitis C	17	17p13.1	TP53	7505821	7531642		Okada, F.  et al. 2001	11566488				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer letters. 2001 Oct;172(2):137-42	A p53 polymorphism associated with increased risk of hepatitis C virus infection.		191170	14436	2	2001	We found no significant statistical difference between the p53 polymorphism and other genotypes of HCV (2a, 2b and others). On the basis of our study we believe there exists a significant correlation between male homozygotes for p53Pro with HCV type 1b infection.	Control:232 noninfected control subjects;Case:75 cases with hepatitis C virus infection:Japan										
137238	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhang, L.  et al. 2002	11836677	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):3-Oct	[p53 gene codon 72 polymorphism and susceptibility to esophageal squamous cell carcinoma in a Chinese population]		191170	14437	2	2002	 The p53 codon 72 polymorphism may play a role in susceptibility to esophageal carcinogenesis.	Control:204 healthy controls;Case:91 patients with esophageal squamous cell carcinoma	smoking (tobacco)									
137239	Y	lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Biros, E.  et al. 2002	11844595				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Lung cancer (Amsterdam, Netherlands). 2002 Mar;35(3):231-5	A link between the p53 germ line polymorphisms and white blood cells apoptosis in lung cancer patients.		191170	14438	2	2002	These observations suggest that the p53 BstUI and the p53 MspI SNPs may play a certain role in p53 dependent apoptotic pathway.	Case lung cancer patients;Control healthy controls										
137240	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Suarez-Rincon, A. E.  et al. 2002	12221910	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Mexico	CDC GDPinfo	7157	Hs.408312			Ginecol Obstet Mex. 2002 Jul;70:344-8	[Polymorphism in codon 72 of the p53 gene and cervico-uterine cancer risk in Mexico]		191170	14439	2	2002	We conclude than In our population, as other worldwide countries, the homozygous for arginine at codon 72 of the p53 gene is not a risk factor to cervical cancer.	Case cases with cervical cancer;Control:controls										
137242	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Urinary Bladder Neoplasms|Disease Progression|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Suzuki, K.  et al. 2003	12824702	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Japanese		CDC GDPinfo	7157	Hs.408312			Journal of biomedical science. 2003 Jul-Aug;10(4):430-5	A p53 codon 72 polymorphism associated with prostate cancer development and progression in Japanese.		191170	14441	2	2003	The present findings suggest that the Pro/Pro genotype of p53 codon 72 played a role in prostate cancer susceptibility in a Japanese population. However, the Pro allele did not appear to worsen such clinical parameters as clinical stage or pathological grade.	Control:105 noncancer controls;Case:114 prostate cancer patients:Japan										
137243	Y	cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Thrombosis|Cerebral Infarction	17	17p13.1	TP53	7505821	7531642		Skvortsova, V. I.  et al. 2003	12830514				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2003 ;(Suppl 8):24-9	[Association between Bam HI RFLP p53 gene polymorphism and brain infarction volume in patients with atherothrombotic ischemic stroke]		191170	14442	2	2003	A significant association between p53 Bam HI polymorphism and infarction volume in patients with carotid atherothrombotic stroke confirms an important role of apoptosis in ischemic brain lesions formation that demands temporary antiapoptotic influence on patients with stroke.	Cohort 100/96 healthy siblings of the atherothrombotic ischemic stroke patients (n=100) and of the chronic ischemic disease patients (n=96) Cohort 96/41 atherothrombotic ischemic stroke patients (n=96) and chronic ischemic disease patients (n=41) Moscow, Russia 										
137244	Y	lung cancer; esophageal cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Esophageal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhang, J. H.  et al. 2003	12921568				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese	China	CDC GDPinfo	7157	Hs.408312			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2003 Jul;25(4):365-7	[p53gene polymorphism with susceptibility to esophageal cancer and lung cancer in Chinese population]		191170	14443	2	2003	 In the northern Chinese population, p53 Pro/Pro genotype is an independent risk factor for both esophageal cancer and lung cancer. The possible common genetic basis of the development of these two cancers is suggested by this study.	Control:136 healthy controls;Case:173/98 patients with esophageal squamous cell carcinoma (=173) and non-small cell lung carcinoma (n=98)										
137245		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Li, C. Y.  et al. 2004	15566643	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Ai zheng. 2004 Nov;23(11 Suppl):1396-9	[Correlation between P53 codon 72 polymorphism and tumorigenesis of cervical cancer]		191170	14444	2	2004	 Arg/Arg genotype is not a high-risk factor for cervical cancer in Chinese population, and individuals with Pro/Pro genotype are likely to develop cervical cancer.	Case:46 Chinese patients with cervical cancer:Guangdong:Sep, 2002 - May, 2003;Control:84 patients with benign gynecologic tumor										
137246	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Kang, S.  et al. 2004	15634502				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Zhonghua fu chan ke za zhi. 2004 Nov;39(11):754-8	[Association of p53 gene polymorphism with susceptibility to ovarian cancer]		191170	14445	2	2004	 In northern Chinese women, p53 codon 72 Pro/Arg and p53 PIN3 gene polymorphisms are not associated with development of ovarian cancer. Arg/Arg genotype may be used as a stratification marker according to the standards of FIGO for ovarian cancer.	Case:124 patients with ovarian cancer northern China;Control:128 healthy control women										
137247	Y	keloid	OTHER	OTH		17	17p13.1	TP53	7505821	7531642		Zhuo, Y.  et al. 2005	15704837	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Zhongguo xiu fu chong jian wai ke za zhi. 2005 Jan;19(1):28-30	[p53 gene codon 72 polymorphism and susceptibility to keloid in Chinese population]		191170	14446	2	2005	 The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.	Control:15 healthy controls;Case:15 Chinese patients with keloid										
137248	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhu, Z. Z.  et al. 2005	15774209	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Zhonghua yi xue za zhi. 2005 Jan;85(2):76-9	[p53 gene codon 72 polymorphism and genetic susceptibility to hepatocellular carcinoma in Chinese population]		191170	14447	2	2005	 The Pro allele of p53 Arg72Pro is associated with the presence of HCC and Pro/Pro homozygote is potentially one of the risk genetic risk factors for HCC in Chinese population.	Case:507 Chinese patients with hepatocellular carcinoma;Control:541 patients with benign liver diseases										
137249		keloid	OTHER	OTH		17	17p13.1	TP53	7505821	7531642		Wang, C. M.  et al. 2005	15844595				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhonghua zheng xing wai ke za zhi. 2005 Jan;21(1):32-5	[Investigation of p53 polymorphism for genetic predisposition of keloid and hypertrophic scar]		191170	14449	2	2005	 The Proline-encoding allele and Arginine-encoding allele could have the risks for the hypertrophic scar and the piecing-induced ear-lobe keloid. Also, the pathogenesis of the hypertrophic scar seems to be different from that of keloid at the molecular level.	Case Japanese patients with 54 keloid and 30 hypertrophic scars;Control normal Japanese controls										
137250		hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhu, Z. Z.  et al. 2005	15979781				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer letters. 2005 Nov;229(1):77-83	A p53 polymorphism modifies the risk of hepatocellular carcinoma among non-carriers but not carriers of chronic hepatitis B virus infection.		191170	14450	2	2005												
137252		keloid disease	OTHER	OTH		17	17p13.1	TP53	7505821	7531642		Zhuo, Y.  et al. 2005	16128105	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhonghua zheng xing wai ke za zhi. 2005 May;21(3):201-3	[p53 gene codon 72 polymorphism and susceptibility to keloid]		191170	14454	2	2005	 Determination of the p53 codon 72 genotype may be used as a stratification marker to predicate high-risk individuals for keloid.											
137254		liver cancer	CANCER	CAN		17	17p13.1	TP53	7505821	7531642		Zhu, Z.  et al. 2005	16331559				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):632-5	[Association of p53 codon 72 polymorphism with genetic susceptibility to hepatocellular carcinoma in Chinese population.]		191170	14457	2	2005	 The P allele of the p53 R72P polymorphism has an increased risk for HCC in HbsAg-negative subjects, and exerts a synergistic influence on the risk for HCC when combined with HCC family history and the male gender.		family history hepatitis B									
137255		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage	17	17p13.1	TP53	7505821	7531642			16314399				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese		CDC GDPinfo	7157	Hs.408312			Carcinogenesis. 2005	Joint effects of single nucleotide polymorphisms in P53BP1 and P53 on breast cancer risk in a chinese population		191170	14459	2	2005				P53BP1	T-885G and Gln1136Lys	P53	Arg72Pro			Y		Progesterone receptor (PR) negative breast cancer and estrogen receptor (ER) negative breast cancer
137256	N	colorectal cancer; esophageal cancer; stomach cancer	CANCER	CAN	Digestive System Neoplasms|Gastrointestinal Neoplasms|Esophageal Neoplasms	17	17p13.1	TP53	7505821	7531642		Hamajima, N.  et al. 2002	12430182	G4C14-to-A4T14 at exon 2 and p53 Arg72Pro			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Japanese	Japan	CDC GDPinfo	7157	Hs.408312			Cancer letters. 2002 Jul;181(1):81-5	No associations of p73 G4C14-to-A4T14 at exon 2 and p53 Arg72Pro polymorphisms with the risk of digestive tract cancers in Japanese		191170	14461	2	2002	No significant differences in the genotype frequencies were observed between the controls and each case group or cases as a whole.	Case:102/144/147 esophageal (n=102), stomach (n=144), and colorectal (n=147) cancer patients;Control:241 non-cancer outpatients										
137257	N	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Niwa, Y.  et al. 2005	15723718	G4C14-to-A4T14 at exon 2 and p53 Arg72Pro			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Japanese	Japan	CDC GDPinfo	7157	Hs.408312			Cancer letters. 2005 Mar;219(2):183-90	Association of p73 G4C14-to-A4T14 polymorphism at exon 2 and p53 Arg72Pro polymorphism with the risk of endometrial cancer in Japanese subjects.		191170	14465	2	2005	An unconditional logistic regression model demonstrated a significant association between the p73 AA genotype and an increased risk of endometrial cancer (OR=2.82, 95% CI=1.36-5.82), especially of type-I tumors (OR=3.24, 95% CI=1.53-6.87). In contrast, there was no significant difference in the p53 Arg72Pro genotype frequency between the controls and cases.	Case:114 endometrial cancer patients;Control:320/122 healthy females (N=320) and noncancer female:outpatients (n=122)										
137258		breast cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Sifuentes Alvarez, A.  et al. 2003	12708345				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Ginecol Obstet Mex. 2003 Jan;71:5-Dec	[Risk factors for cervico-uterine cancer associated to HPV: p53 codon 72 polymorphism in womenattending hospital care]		191170	19960	2	2003	The detection of a high percentage of arginine homocygotes suggests that this genotype, considered as a risk factor for cancer associated to oncogenic HPV, has a high prevalence in the north of Mexico. The determination of this kind of polymorphisms is important as preventive action with regard to identification of risk factors for CaCu associated to HPV infection.	Cohort 102 inpatient women Mexico 										
137259		stomach cancer; gastric ulcer; duodenal ulcer	CANCER	CAN	Stomach Neoplasms|Gastritis|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhang, Z. W.  et al. 2004	15104366				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Digestive diseases and sciences. 2004 Feb;49(2):254-9	A comparison study of gastric cancer risk in patients with duodenal and gastric ulcer: roles ofgastric mucosal histology and p53 codon 72 polymorphism		191170	19961	2	2004	There was no significant difference in the distribution patterns between gastric ulcer and noncardiac or cardiac cancer or between gastric and duodenal ulcer. These findings may be a reflection of differences in the interaction between p53 codon 72 polymorphism and local factors in the stomach.	Cohort 397 Caucasian patients with gastric and duodenal ulcer 										
137260		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	17	17p13.1	TP53	7505821	7531642		Wang, X. L.  et al. 2004	15555357				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhonghua liu xing bing xue za zhi. 2004 Sep;25(9):769-74	[Significance of p53 gene mutation and P53 protein expression abnormality on the prognosis of esophageal cancer: a meta-analysis study.]		191170	19962	2	2004	 Findings showed that p53 was a poor prognosis biomarker for esophageal cancer gene diagnosis but might benefit to the strategy of treatment.											
137261		lung cancer	CANCER	CAN		17	17p13.1	TP53	7505821	7531642		Zhou, C. Z.  et al. 2004	16200870				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhonghua jie he he hu xi za zhi. 2004 Oct;27(10):678-82	[Correlation between p53 gene mutation and the expression of tumor drug resistance genes in lung cancer and its clinical significance]		191170	19964	2	2004	 The results suggested that p53 mutation in lung cancers was closely correlated with the expression of drug-resistance associated protein which was associated with endogenous resistance to most of chemotherapeutic drugs. It indicated that wild p53 gene therapy might be helpful for treating the endogenous drug resistance of lung cancer in chemotherapeutics.		chemotherapy									
137263		uterine leiomyomas	OTHER	OTH	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Denschlag, D.  et al. 2005	16009172				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Fertility and sterility. 2005 Jul;84(1):162-6	Polymorphism of the p53 tumor suppressor gene is associated with susceptibility to uterine leiomyoma.		191170	23775	2	2005	 Carriage of the p53 polymorphism at codon 72 predicts the susceptibility to leiomyoma in a Caucasian population and may contribute to the pathogenesis of uterine leiomyoma.											
137265		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642			16161633				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Genetika. 2005 Aug;41(8):1115-24	[Population genetic analysis of the association between the BRCA1 and P53 gene polymorphisms and the risk of sporadic breast cancer]		191170	23777	2	2005												
137266		longevity	AGING	AGE		17	17p13.1	TP53	7505821	7531642			15651660				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Vestn Ross Akad Med Nauk. 2004 ;(11):25-8	[Functional polymorphism of p53 and CCR5 genes in long-livers of a Siberian Region]		191170	23778	2	2004	A trend was detected towards accumulation of the p53 Pro alleles in association with the CCR5del32 allele in the study group, which, as the authors believe, can enhance the genome resistance to variable factors that cut the life span.	Cohort 131 long-livers from Novosibirsk and Tyumen Regions 										
137267		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Keshava, C.  et al. 2002	11815410				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Caucasian		CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2002 Jan;11(1):127-30	Waf-1 (p21) and p53 polymorphisms in breast cancer.		191170	23779	2	2002	we did not see an interaction between Waf-1(ser31) and p53(1--2-1). Consistent with the finding that p53(1--2-1) is a risk factor for Caucasian women was the observation of a strong interaction between race and p53 (P < 0.01).	Case:160 Caucasians, African-Americans and Latinas breast cancer patients;Control:327 controls of same ethnic origin										
137268	N	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Wu, M. T.  et al. 2004	15036662				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Taiwan	CDC GDPinfo	7157	Hs.408312			Cancer letters. 2004 Mar;205(1):61-8	Influences of lifestyle habits and p53 codon 72 and p21 codon 31 polymorphisms on gastric cancer risk in Taiwan.		191170	23780	2	2004	In summary, our data indicate that in Taiwan, H. pylori infection, smoking and areca chewing are significant risk predictors for developing gastric cancer. p53 codon 72 and p21 codon 31 genotypes did not modify these risks.	Control:192 hospital-based controls;Case:89 gastric adenocarcinoma hospital-based cases:Taiwan	Helicobacter pylori smoking (tobacco) tobacco, chewing									
137269	Y	gastritis, chronic atrophic; stomach cancer	CANCER	CAN	Intestinal Neoplasms|Colorectal Neoplasms|Stomach Neoplasms|Nasopharyngeal Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Xi, Y. G.  et al. 2004	15240512				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Carcinogenesis. 2004 Nov;25(11):2201-6	p53 polymorphism and p21WAF1/CIP1 haplotype in the intestinal gastric cancer and the precancerous lesions.		191170	23781	2	2004	These results suggest that p53 and/or p21(WAF1/CIP1) genotype may influence the progression during gastric tumorigenesis.	Case:48/96/96 intestinal gastric carcinoma cases (n=48) and chronic atrophic gastritis (n=96) and intestinal:metaplasia (n=96);Control:96 dysplasia controls										
137270		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Hishida, A.  et al. 2004	15291355				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Japanese	Japan	CDC GDPinfo	7157	Hs.408312			Leukemia & lymphoma. 2004 May;45(5):957-64	Polymorphisms of p53 Arg72Pro, p73 G4C14-to-A4T14 at exon 2 and p21 Ser31Arg and the risk of non-Hodgkin's lymphoma in Japanese.		191170	23782	2	2004	Further examination with a sufficiently larger population and other ethnicities are required to confirm our findings.	Case non-Hodgkin's lymphoma cases:Japan;Control:controls										
137271		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	17	17p13.1	TP53	7505821	7531642		Huang, S. P.  et al. 2004	15598783				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2217-24	p53 Codon 72 and p21 codon 31 polymorphisms in prostate cancer.		191170	23783	2	2004	Our findings suggest that the p21 codon 31 polymorphism may be associated with the development of prostate enlargement and cancer.	Case:200 prostate cancer cases:Taiwan;Control:247/181 age-matched male controls (n=247) and non-age-matched symptomatic benign prostatic hyperplasic patients (n=181)										
137272		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Disease Progression|Recurrence	17	17p13.1	TP53	7505821	7531642		Hernandez, S.  et al. 2005	16061860				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Clinical cancer research. 2005 Aug;11(15):5444-50	FGFR3 and Tp53 mutations in T1G3 transitional bladder carcinomas: independent distribution andlack of association with prognosis.		191170	23784	2	2005												
137273	N	lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Pierce, L. M.  et al. 2000	11097227				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Japanese		CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1199-204	Relationships of TP53 codon 72 and HRAS1 polymorphisms with lung cancer risk in an ethnically diverse population		191170	23785	2	2000	This study suggests that the presence of two rare HRAS1 alleles confers an increased lung cancer risk in Native Hawaiians and Japanese but possibly not in Caucasians. The amino acid replacement of arginine by proline at codon 72 of TP53 appears not to be important in determining lung cancer risk in this population.	Case:334 incident lung cancer cases of Caucasian, Japanese, or Native Hawaiian origin;Control:446 controls of Caucasian, Japanese, or Native Hawaiian:origin										
137274		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Fibrosis|Pulmonary Disease, Chronic Obstructive	17	17p13.1	TP53	7505821	7531642			12838617				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Genetika. 2003 May;39(5):694-701	[Development of chronic obstructive pulmonary disease correlates with mini- and microsatellite locus instability]		191170	23786	2	2003	These findings suggest that rare alleles at the Hras1 locus may be associated with hereditary predisposition to COPD and the development of pneumofibrosis, while mutations in microsatellite markers result from exposure to tobacco smoke carcinogens and are not associated with the appearance of these pathologies.	Control healthy smoking and nonsmoking individuals;Case:53 chronic obstructive pulmonary disease (COPD):patients	smoking (tobacco)									
137275		lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Le Calvez, F.  et al. 2005	15958551				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer research. 2005 Jun;65(12):5076-83	TP53 and KRAS mutation load and types in lung cancers in relation to tobacco smoke: distinctpatterns in never, former, and current smokers.		191170	23787	2	2005			smoking (tobacco)									
137276		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642		Catalano, T.  et al. 2005	16077965				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Oncology reports. 2005 Sep;14(3):625-31	Mutations in the p53 and Ki-ras genes, microsatellite instability and site of tumor origin in colorectal cancer.		191170	23788	2	2005												
137278		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	17	17p13.1	TP53	7505821	7531642		Sotamaa, K.  et al. 2005	16203772				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Finland	CDC GDPinfo	7157	Hs.408312			Clinical cancer research. 2005 Oct;11(19 Pt 1):6840-4	p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome.		191170	23790	2	2005	 This study failed to show any role of the p53 polymorphism on age of colorectal cancer onset in Lynch syndrome and sporadic colorectal cancer. The polymorphism in the MDM2 promoter had no affect on age of onset in Lynch syndrome. Accurate information about age of onset is important in clinical practice, especially in high-risk conditions. As association studies are vulnerable to biologically insignificant variation, both positive and negative findings need to be reported to enable unbiased assessment of the significance of putative risk variants.											
137279		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Hong, Y.  et al. 2005	16230424				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer research. 2005 Oct;65(20):9582-7	The role of P53 and MDM2 polymorphisms in the risk of esophageal squamous cell carcinoma.		191170	23791	2	2005			smoking (tobacco)									
137281		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhang, X.  et al. 2005	16287156				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Human mutation. 2006 Jan;27(1):110-7	Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.		191170	23793	2	2005			smoking (tobacco)									
137282	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Roh, J. W.  et al. 2004	15099969				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Korean		CDC GDPinfo	7157	Hs.408312			Gynecologic oncology. 2004 May;93(2):499-505	p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer.		191170	23794	2	2004	 These data suggest that there is a significant association between the genetic polymorphisms of p53, p21, and specific combinations of the at-risk genotypes of these genes and the risk of developing endometrial cancer in Korean women.	Control:285 non-cancer controls;Case:95 Korean endometrial cancer patients (hospital-based)										
137283	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Liu, G.  et al. 2004	15534883				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer. 2004 Dec;101(12):2802-8	The SOD2 Val/Val genotype enhances the risk of nonsmall cell lung carcinoma by p53 and XRCC1 polymorphisms.		191170	23795	2	2004	 The SOD2 Val/Val genotype may increase the risk of NSCLC carried by XRCC1 and p53 polymorphisms, particularly for adenocarcinoma.	Control:1,233 healthy controls;Case:935 Caucasian patients with nonsmall cell lung:carcinoma										
137284		cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Bhattacharya, P.  et al. 2005	16054204				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Indian	India	CDC GDPinfo	7157	Hs.408312			Gynecologic oncology. 2005 Oct;99(1):176-82	Lack of evidence that proline homozygosity at codon 72 of p53 and rare arginine allele at codon 31 of p21, jointly mediate cervical cancer susceptibility among Indian women.		191170	23796	2	2005	 p53 and p21 act in series in mediating cell cycle arrest. However, the two risk factors, p53 proline homozygosity and p21 arginine allele, although part of a common causal pathway, appear to act in a mutually exclusive manner.											
137285		radiation, ionizing, sensitivity to	CANCER	CAN	Breast Neoplasms|Radiodermatitis|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Tan, X. L.  et al. 2005	16331344				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Breast cancer research and treatment. 2005	Association between TP53 and p21 genetic polymorphisms and acute side effects of radiotherapy in breast cancer patients		191170	23797	2	2005												
137286		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642			16364249				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Biochemical and biophysical research communications. 2006 Feb;340(1):256-62	TP53 and P21 polymorphisms: Response tocisplatinum/paclitaxel-based chemotherapy in ovarian cancer		191170	23798	2	2005			cisplatin paclitaxel									
137288		prostate cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Duzhak, T. G.  et al. 2001	11507974				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Siberia	CDC GDPinfo	7157	Hs.408312			International journal of circumpolar health. 2001 Apr;60(2):228-34	Genetic polymorphisms of CYP1A1, GSTM1 and P53 genes in a unique Siberian population of Tundra Nentsi and its pharmacogenetic importance		191170	25726	2	2001	Thus the prevalence of two polymorphic genes CYP1A1 and GSTM1 responsible for the biotransformation of polycyclic aromatic hydrocarbons was too high in the non-healthy group.	Cohort a unique Siberian population of Tundra Nentsi 										
137289		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Lee, J. E.  et al. 2004	14764039				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Korean	Korea	CDC GDPinfo	7157	Hs.408312			International journal of gynecological cancer. 2004 Jan-Feb;14(1):118-25	Gene-gene and gene-environmental interactions of p53, p21, and IRF-1 polymorphisms in Korean women with cervix cancer		191170	25727	2	2004	 We found that the level of education, the age at first intercourse, and the number of children were independent risk factors in cervix carcinogenesis. The specific combinations of p53, p21, and IRF-1 gene-gene and gene-environmental interactions were significantly noted in the cervix carcinogenesis of Korean women.	Case:185 Korean cervical cancer patients;Control:345 normal healthy women	age at first sexual intercourse parity									
137290		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Endometrial Hyperplasia	17	17p13.1	TP53	7505821	7531642		Feng, Y. Z.  et al. 2005	16144912				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Clinical cancer research. 2005 Sep;11(17):6133-8	BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53mutations and mismatch repair protein expression.		191170	25728	2	2005	 These findings suggest that mutations of the BRAF gene are partly involved in the malignant transformation of the endometrium.											
137292		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|DNA Damage|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642			16353134				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			International journal of cancer Journal international du cancer. 2005	Age of diagnosis of colorectal cancer in HNPCC patients is more complex than that predicted by R72P polymorphism in TP53		191170	25730	2	2005												
137293	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Kalemi, T. G.  et al. 2005	15837541				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Greece	CDC GDPinfo	7157	Hs.408312			Cancer letters. 2005 May;222(1):57-65	The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece.		191170	25731	2	2005	results showed that p53 codon 72 polymorphism is statistically significantly associated with breast cancer (OR for Arg/Arg to non-Arg/Arg was 6.66, P=0.0001 at 95% CI 2.63-16.9), but not Her 2 and MTHFR polymorphisms	Case:42 women with breast cancer Northern Greece;Control:51:controls										
137294		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	17	17p13.1	TP53	7505821	7531642		Medina, P. P.  et al. 2003	12917199				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of Homologous Recombination Gene Polymorphisms in Lung Cancer Patients Reveals an Association of the NBS1-185Gln Variant and p53 Gene Mutations		191170	25732	2	2003	Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.	Cohort 109 lung cancer patients 	smoking (tobacco)									
137295		anaplastic astrocytoma; glioblastoma multiforme	CANCER	CAN	Astrocytoma|Glioblastoma|Brain Neoplasms	17	17p13.1	TP53	7505821	7531642		Smith, J. S.  et al. 2001	11504770				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Journal of the National Cancer Institute. 2001 Aug;93(16):1246-56	PTEN mutation, EGFR amplification, and outcome in patients with anaplastic astrocytoma and glioblastoma multiforme.		191170	25733	2	2001	 PTEN mutation and EGFR amplification are important prognostic factors in patients with anaplastic astrocytoma and in older patients with glioblastoma multiforme, respectively.	Cohort 174 patients enrolled in Mayo Clinic Cancer Center and North Central Cancer Treatment Group clinical trials for newly diagnosed gliomas 										
137296		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	17	17p13.1	TP53	7505821	7531642		Wang, L. E.  et al. 2004	15313891				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer research. 2004 Aug;64(16):5560-3	Polymorphisms of DNA repair genes and risk of glioma.		191170	25734	2	2004	These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.	Case:309 patients with newly diagnosed glioma;Control:342 cancer-free control participants matched on age										
137297		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Kuhlmann, T.  et al. 2002	12161031				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Journal of neuroimmunology. 2002 Aug;129(2-Jan):154-60	Investigation of bax, bcl-2, bcl-x and p53 gene polymorphisms in multiple sclerosis.		191170	26722	2	2002	No significant differences in the frequency of gene sequence variations were found between MS patients and controls. The apoptosis genes studied here therefore appear less likely to be important effector genes in MS.	Case:105 multiple sclerosis patients with a relapsing remitting disease course;Control:99:controls										
137298		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	17	17p13.1	TP53	7505821	7531642		Soto Martinez, J. L.  et al. 2005	15960923				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Clinical & translational oncology. 2005 May;7(4):156-64	Mutation and homozygous deletion analyses of genes that control the G1/S transition of the cell cycle in skin melanoma: p53, p21, p16 and p15.		191170	26723	2	2005	 Our results suggest that these genes are involved in melanoma tumorigenesis; but perhaps not in the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas need to be studied.											
137300		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Sakiyama, T.  et al. 2004	15609317				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			International journal of cancer. Journal international du cancer. 2005 May;114(5):730-7	Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk		191170	26725	2	2004	The present results suggest that these 4 SNPs function as genetic factors underlying lung cancer susceptibility by modulating activities to maintain the genome integrity of each individual.	Control:685:controls;Case:752/250 adenocarcinoma cases (n=752) and squamous cell carcinoma cases (n=250)										
137301		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Wang, X. L.  et al. 2003	12704594				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Progress in cardiovascular diseases. 2003 Mar-Apr;45(5):361-82	Genetic influence on cigarette-induced cardiovascular disease.		191170	26726	2	2003	Review article		smoking (tobacco)									
137302		melanoma, sporadic primary	CANCER	CAN	Melanoma	17	17p13.1	TP53	7505821	7531642		Kumar, R.  et al. 2001	11668523				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):388-93	A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.		191170	27312	2	2001	The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls.	Case:229 melanoma cases;Control:235 controls not otherhwise specified in abstract										
137303	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Menzel, H. J.  et al. 2004	15138483				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			British journal of cancer. 2004 May;90(10):1989-94	Association of NQO1 polymorphism with spontaneous breast cancer in two independent populations.		191170	27659	2	2004	Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci.	Control controls from Prague, Czech Republic;Case breast cancer cases Prague, Czech Republic;Control controls from Tyrol, Austria;Case breast cancer cases:Tyrol, Austria										
137304		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p13.1	TP53	7505821	7531642		Figer, A.  et al. 2003	14719475				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		191170	27871	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
137306		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	17	17p13.1	TP53	7505821	7531642		Malats, N.   2001	12120227				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		191170	28020	2	2001	Review article		alcohol smoking (tobacco)									
137307		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	17	17p13.1	TP53	7505821	7531642		Ishikawa, K.  et al. 2005	15838728				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		191170	28127	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
137308		longevity	AGING	AGE		17	17p13.1	TP53	7505821	7531642		Stessman, J.  et al. 2005	15621215				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		191170	28128	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
137309		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Starinsky, S.  et al. 2004	15523694				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Israel	CDC GDPinfo	7157	Hs.408312			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		191170	28369	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
137310		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	17	17p13.1	TP53	7505821	7531642		Chernajovsky, Y.  et al. 2002	12421093				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		191170	28370	2	2002	Review article											
137311		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	17	17p13.1	TP53	7505821	7531642		Xing, D.  et al. 2003	12883749				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Chinese	China	CDC GDPinfo	7157	Hs.408312			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		191170	28405	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
137312		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Kiyohara, C.  et al. 2002	12234692				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		191170	28432	2	2002	Review article		smoking (tobacco)									
137313		breast cancer	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Goode, E. L.  et al. 2002	12036913				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		191170	28495	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
137315		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	17	17p13.1	TP53	7505821	7531642		Zee, R. Y.  et al. 2002	12082592				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		191170	28673	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
137316		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage	15	15q15-q21	TP53BP1	41486698	41590028			16314399				Tumor protein p53 binding protein, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005657.1	Chinese		CDC GDPinfo	7158	Hs.440968			Carcinogenesis. 2005	Joint effects of single nucleotide polymorphisms in P53BP1 and P53 on breast cancer risk in a chinese population		605230	23799	2	2005												
137317	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1q42.1	TP53BP2	222034217	222100297		Ju, H.  et al. 2005	15986435				Tumor protein p53 binding protein, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001031685		Korea	CDC GDPinfo	7159	Hs.523968			International journal of cancer. Journal international du cancer. 2005 Dec;117(6):957-60	TP53BP2 locus is associated with gastric cancer susceptibility.		602143	19965	2	2005												
137319		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Niwa Y 2004	15036661				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Japanese	Japan	KGB	7161	Hs.192132			Cancer letters. 2004 Mar;205(1):55-60	Genetic polymorphisms of p73 G4C14-to-A4T14 at exon 2 and p53 Arg72Pro and the risk of cervical cancer in Japanese.		601990	6260	1	2004												
137320	Y	esophageal cancer	CANCER	CAN	Carcinoma|Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Ryan, B. M.  et al. 2001	11720435				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDPinfo	7161	Hs.192132			British journal of cancer. 2001 Nov;85(10):1499-503	A common p73 polymorphism is associated with a reduced incidence of oesophageal carcinoma.		601990	14460	2	2001	Our findings indicate that p73 AT/AT homozygotes appear to be protected against the development of oesophageal cancer. Clinically, this observation could have implications in aiding identification of high-risk Barrett's oesophagus patients.	Control:152 normal population controls;Case:84 cases of oesophageal cancer (25 squamous and 59:adenocarcinoma)										
137322	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Li, G.  et al. 2004	15466174	G4C14-to-A4T14			Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDPinfo	7161	Hs.192132			Cancer research. 2004 Oct;64(19):6863-6	p73 G4C14-to-A4T14 Polymorphism and Risk of Lung Cancer		601990	14463	2	2004	These results suggest that this p73 polymorphism may be a marker for susceptibility to lung cancer.	Case:1,054 patients newly diagnosed with lung cancer from a hospital-based study;Control:1,139 cancer-free controls	smoking (tobacco)									
137323	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1p36.3	TP73	3558988	3640317		Hu, Z.  et al. 2004	15578704				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Chinese	China	CDC GDPinfo	7161	Hs.192132			International journal of cancer. Journal international du cancer. 2005 Apr;114(3):455-60	Dinucleotide polymorphism of p73 gene is associated with a reduced risk of lung cancer in a Chinese population.		601990	14464	2	2004	These results suggest that this p73 dinucleotide polymorphism may have a role in lung cancer susceptibility in our study population. Further studies are needed to elucidate potential functional relevance of the p73 AT variant allele.	Case:425 Chinese lung cancer patients;Control:588 cancer-free controls frequency-matched to the cases on age and sex										
137324	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Hu, Z. B.  et al. 2005	15921610				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDPinfo	7161	Hs.192132			Zhonghua liu xing bing xue za zhi. 2005 Feb;26(2):106-9	[Association of two genetic polymorphisms in the 5'untranslated region of exon 2 of the p73 gene and risk of lung cancer]		601990	14466	2	2005	 These results suggested that this p73 dinucleotide polymorphism might have had a role to play in the susceptibility of lung cancer.	Case:425 lung cancer cases;Control:588 cancer-free controls, frequency-matched by age and:sex										
137325	N	colorectal cancer; esophageal cancer; stomach cancer	CANCER	CAN	Digestive System Neoplasms|Gastrointestinal Neoplasms|Esophageal Neoplasms	1	1p36.3	TP73	3558988	3640317		Hamajima, N.  et al. 2002	12430182				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Japanese	Japan	CDC GDPinfo	7161	Hs.192132			Cancer letters. 2002 Jul;181(1):81-5	No associations of p73 G4C14-to-A4T14 at exon 2 and p53 Arg72Pro polymorphisms with the risk of digestive tract cancers in Japanese		601990	23800	2	2002	No significant differences in the genotype frequencies were observed between the controls and each case group or cases as a whole.	Case:102/144/147 esophageal (n=102), stomach (n=144), and colorectal (n=147) cancer patients;Control:241 non-cancer outpatients										
137326	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Niwa, Y.  et al. 2005	15723718				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Japanese	Japan	CDC GDPinfo	7161	Hs.192132			Cancer letters. 2005 Mar;219(2):183-90	Association of p73 G4C14-to-A4T14 polymorphism at exon 2 and p53 Arg72Pro polymorphism with the risk of endometrial cancer in Japanese subjects.		601990	23801	2	2005	An unconditional logistic regression model demonstrated a significant association between the p73 AA genotype and an increased risk of endometrial cancer (OR=2.82, 95% CI=1.36-5.82), especially of type-I tumors (OR=3.24, 95% CI=1.53-6.87). In contrast, there was no significant difference in the p53 Arg72Pro genotype frequency between the controls and cases.	Case:114 endometrial cancer patients;Control:320/122 healthy females (N=320) and noncancer female:outpatients (n=122)										
137327	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p36.3	TP73	3558988	3640317		Hiraki, A.  et al. 2003	12875622				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDPinfo	7161	Hs.192132			Asian Pacific journal of cancer prevention. 2003 Apr-Jun;4(2):107-12	Different risk relations with smoking for non-small-cell lung cancer: comparison of TP53 andTP73 genotypes.		601990	23802	2	2003	 A risk relation of heavy smoking for the NSCLC is suggested with the TP53 but not the TP73 polymorphism.	Case:192 histologically confirmed non-small cell lung cancer:cases;Control:241 non-cancer controls	smoking (tobacco)									
137329	Y	blastic crisis	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	3	3q27-q29	TP73L	190831909	191097758		Yamaguchi H et al. 2001	11681414				Tumor protein p73-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003722.3			KGB	8626	Hs.137569			Leukemia. 2001 Nov;15(11):1729-34	Mutation of the p51/p63 gene is associated with blastic crisis in chronic myelogenous leukemia.		603273	6580	1	2001												
137330	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.3-p14	TPH1	17999113	18018885	n	Tang G et al. 2001	11496362	A218C polymorphism in intron 7			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		KGB	7166	Hs.591999			American journal of medical genetics. 2001 Aug;105(6):485-8	Lack of association between the tryptophan hydroxylase gene A218C polymorphism and attention-deficit hyperactivity disorder in Chinese Han population.		191060	6261	1	2001	our data indicate that the TPH gene A218C polymorphism may not be a susceptibility factor of ADHD in the Chinese Han population	Cohort 69 attention-deficit hyperactivity patients and their biological parents										
137331	Y	suicidal behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Rujescu D 2003	12915291				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			Biological psychiatry. 2003 Aug;54(4):465-73	Genetic variations in tryptophan hydroxylase in suicidal behavior: analysis and meta-analysis.		191060	6262	1	2003	 Our meta-analysis provides strong evidence for an association of suicide-related behavior with an A218 single-nucleotide polymorphism in the TPH gene in Caucasians. Because this variation do not seem to alter functional properties of the TPH gene or protein, functional variations remain to be identified and subsequently tested for association with suicide-related behavior.	Control:1,179 controls for the meta-analysis;Case:147 suicide attempters;Control:326 healthy control subjects of German descent;Case:898 patients with suicide related behavior for the:meta-analysis										
137333	Y	schizophrenia	PSYCH	PSY	Chromosome Disorders|Chromosome Aberrations|Acute Disease|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885	P=0.002	Hong CJ 2001	11343864	TPH A218C polymorphism intron 7			tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Han Chinese		KGB	7166	Hs.591999			Schizophrenia research. 2001 Apr;49(2-Jan):59-63	Association between tryptophan hydroxylase gene polymorphism (A218C) and schizophrenic disorders.		191060	6264	1	2001		Case:196; Control:251										
137334	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	11	11p15.3-p14	TPH1	17999113	18018885	n	Serretti A et al. 2002	11992558				tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Italian			7166	Hs.591999			American journal of medical genetics. 2002 May;114(4):361-9	Family-based association study of 5-HTTLPR TPH MAO-A and DRD4 polymorphisms in mood disorders.		191060	6265	1	2002		Case:103BP-58 MD										
137335	Y	anger-related traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Rujescu D et al. 2002	12399958				tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			Molecular psychiatry. 2002 ;7(9):1023-9	Association of anger-related traits with SNPs in the TPH gene.		191060	6266	1	2002												
137336	Y	mood disorder	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885	0.005	Serretti A et al. 2001	11597824			other	tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Italian (Caucasian)		Serretti	7166	Hs.591999	depressive symptomatology		European neuropsychopharmacology. 2001 Oct;11(5):375-80	Tryptophan hydroxylase gene associated with paroxetine antidepressant activity.		191060	6267	1	2001		Case:121	paroxetine pindolol									
137337	N	Major Psychoses	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia, Paranoid	11	11p15.3-p14	TPH1	17999113	18018885	n	Serretti A et al. 2001	11472792			other	tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Italian (Caucasian)		Serretti	7166	Hs.591999	bipolar, major depressive, schizophrenic, delusional disorder, psychotic disorder not otherwise specified		Psychiatry research. 2001 Aug;103(1):79-86	Tryptophan hydroxylase gene and major psychoses		191060	6268	1	2001		Case:bipolar (n=627), major depressive (n=511), schizophrenic (n=210), delusional (n=48) disorder and psychotic disorder not otherwise specified (n=27); Control:380										
137338	Y	major and bipolar depressives	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885	P = 0.001	Serretti A et al. 2001	11526473			other	tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Italian (Caucasian)		Serretti	7166	Hs.591999			Molecular psychiatry. 2001 Sep;6(5):586-92	Influence of tryptophan hydroxylase and serotonin transporter genes on fluvoxamine antidepressant activity		191060	6269	1	2001		Case:217	fluvoxamine pindolol									
137339	Y	mood disorders	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885	P = 0.046	Serretti A et al. 1999	10504005			other	tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Italian (Caucasian)		Serretti	7166	Hs.591999	BP and Major depressive		Journal of psychiatric research. 1999 Sep-Oct;33(5):371-7	Tryptophan hydroxylase gene and response to lithium prophylaxis in mood disorders		191060	6270	1	1999	TPH variants may be a possible factor influencing the prophylactic efficacy of lithium in mood disorders.	Case:BP: n = 90; major depressive: n = 18										
137340		suicidal behavior	PSYCH	PSY	Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Paik I et al. 2000	10899755				tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Korean		KGB	7166	Hs.591999			Human heredity. 2000 Nov-Dec;50(6):365-9	TPH gene may be associated with suicidal behavior but not with schizophrenia in the Korean population.		191060	6271	1	2000	This finding suggests that the TPH gene or a gene in its vicinity may influence suicidal behavior in schizophrenics. However, genotypic and allelic distrubutions of this polymorphism did not significantly differ between schizophrenics and controls.											
137341	Y	impulsive inpatients	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Staner L et al. 2002	12116193	A218C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			American journal of medical genetics. 2002 Jul;114(5):553-7	A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients.		191060	8167	1	2002	It was concluded that impulsive-aggressive behavior may be associated with the TPH genotype in well-characterized impulsive patients and that the present results stress the importance of considering impulsiveness-aggressiveness in studies investigating the relationship between suicidal behavior and TPH genotypes.	Control:27 healthy nonimpulsive controls (16 females and 11:males; age, 35.2 +/- 10.2);Case:54 consecutively admitted nonpsychotic nonorganic inpatients (20 females and 34 males; age, 38.8 +/-:11.8)										
137343	N	suicide.	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885	n	Ono H et al. 2000	11121198				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			American journal of medical genetics. 2000 Dec;96(6):861-3	Tryptophan hydroxylase gene polymorphisms are not associated with suicide.		191060	8170	1	2000	We concluded neither the -6526A/G polymorphism nor the 218A/C polymorphism of the TPH gene is likely to have a major effect on the susceptibility of suicide.	Control:controls;Case:132 Japanese suicide victims										
137344		smoking	OTHER	OTH	Tobacco Use Disorder|Disease Progression	11	11p15.3-p14	TPH1	17999113	18018885		Sullivan PF et al. 2001	11449402				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999	smoking		American journal of medical genetics. 2001 Jul;105(5):479-84	Association of the tryptophan hydroxylase gene with smoking initiation but not progression to nicotine dependence.		191060	8174	1	2001	Allele, genotype, and estimated haplotype frequencies for each marker were highly significantly different for smoking initiation and were nonsignificant for progression to nicotine dependence. If these results replicate in other samples, the serotonergic system may be involved in the etiology of smoking initiation given the rate-limiting role of TPH in the biosynthesis of serotonin	Case regular smokers with a high degree of nicotine dependence from previous population-based twin studies, all subjects chosen were unrelated;Case regular smokers with a low degree of nicotine dependence from previous population-based twin studies, all s										
137345	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.3-p14	TPH1	17999113	18018885	n	Wang YC et al. 2001	11150890				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			Neuropsychobiology. 2001 Jan;43(1):4-Jan	No association between tryptophan hydroxylase gene polymorphism and Alzheimer's disease.		191060	8175	1	2001	The negative findings suggested that this TPH polymorphism has no major effect on the development of AD. However, the genetic variation of the TPH gene related to the symptomatology of AD deserves further investigation.	Control:100:controls;Case:150 subjects with Alzheimer's disease										
137346	Y	somatic anxiety	PSYCH	PSY	Anxiety Disorders|Depressive Disorder, Major|Somatoform Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Du L et al. 2001	11426508				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			Journal of affective disorders. 2001 Jun;65(1):37-44	Tryptophan hydroxylase gene 218A/C polymorphism is associated with somatic anxiety in major depressive disorder.		191060	8176	1	2001	 The polymorphism in serotonergic system related genes may be associated with depressive symptoms in major depressive disorder. The results suggest that analysis of clusters that narrow down the phenotype may be more suitable in genetic studies of major depressive illness.	Case:135 unrelated Caucasian patients suffering from major depressive disorder;Control:196 normal unrelated Caucasian controls										
137347	N	suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Ono, H.  et al. 2000	11121198				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2000 Dec;96(6):861-3	Tryptophan hydroxylase gene polymorphisms are not associated with suicide.		191060	14467	2	2000	We concluded neither the -6526A/G polymorphism nor the 218A/C polymorphism of the TPH gene is likely to have a major effect on the susceptibility of suicide.	Control:controls;Case:132 Japanese suicide victims										
137348	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.3-p14	TPH1	17999113	18018885		Wang, Y. C.  et al. 2001	11150890				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Neuropsychobiology. 2001 Jan;43(1):4-Jan	No association between tryptophan hydroxylase gene polymorphism and Alzheimer's disease.		191060	14468	2	2001	The negative findings suggested that this TPH polymorphism has no major effect on the development of AD. However, the genetic variation of the TPH gene related to the symptomatology of AD deserves further investigation.	Control:100:controls;Case:150 subjects with Alzheimer's disease										
137349	N	affective disorder; suicidal behavior	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Souery, D.  et al. 2001	11274651				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	European		CDC GDPinfo	7166	Hs.591999			Biological psychiatry. 2001 Mar;49(5):405-9	Tryptophan hydroxylase polymorphism and suicidality in unipolar and bipolar affective disorders: amulticenter association study		191060	14469	2	2001	 We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Homozygosity for the short allele is significantly less frequent in a subgroup of UPAD patients with a history of suicide attempt than in control subjects.	Case:400 unipolar affective disorder subjects collected within the European Collaborative Project on Affective Disorders;Control:400 matched healthy control subjects collected within the European Collaborative Project on Affective:Disorders;Control:527 matched healthy control subjects collected within the European Collaborative Project on Affective:Disorders;Case:527 bipolar affective disorder subjects collected within the European Collaborative Project on Affective Disorders										
137350	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Shinkai, T.  et al. 2000	11324941				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Psychiatric genetics. 2000 Dec;10(4):165-71	Polymorphisms of tryptophan hydroxylase gene and the symptomatology of schizophrenia: an associationstudy.		191060	14470	2	2000	These results suggest that the TPH gene may play a role in the negative symptoms in male patients with schizophrenia.	Control:148 not specified in abstract;Case:182 patients with schizophrenia										
137351		schizophrenia	PSYCH	PSY	Chromosome Disorders|Chromosome Aberrations|Acute Disease|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Hong, C.  et al. 2001	11343864	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			Schizophrenia research. 2001 Apr;49(2-Jan):59-63	Association between tryptophan hydroxylase gene polymorphism (A218C) and schizophrenic disorders.		191060	14472	2	2001	No association was found between TPH genotypes and suicidal history in schizophrenic patients (P=0.239). The positive finding in this study suggests that the TPH 218A allele is a risk factor for schizophrenic disorders or is in linkage disequilibrium with the putative schizophrenia susceptibility locus in Han Chinese population.	Case:196 schizophrenic patients:Taiwan;Control:251 members of medical staff, medical students, and couple of demented patients with no psyciatic:problems:Taiwan										
137352	Y	depressive disorder, major	PSYCH	PSY	Anxiety Disorders|Depressive Disorder, Major|Somatoform Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Du, L.  et al. 2001	11426508	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Journal of affective disorders. 2001 Jun;65(1):37-44	Tryptophan hydroxylase gene 218A/C polymorphism is associated with somatic anxiety in major depressive disorder.		191060	14473	2	2001	 The polymorphism in serotonergic system related genes may be associated with depressive symptoms in major depressive disorder. The results suggest that analysis of clusters that narrow down the phenotype may be more suitable in genetic studies of major depressive illness.	Case:135 unrelated Caucasian patients suffering from major depressive disorder;Control:196 normal unrelated Caucasian controls										
137353	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.3-p14	TPH1	17999113	18018885		Tang, G.  et al. 2001	11496362	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2001 Aug;105(6):485-8	Lack of association between the tryptophan hydroxylase gene A218C polymorphism and attention-deficit hyperactivity disorder in Chinese Han population.		191060	14475	2	2001	our data indicate that the TPH gene A218C polymorphism may not be a susceptibility factor of ADHD in the Chinese Han population	Cohort 69 attention-deficit hyperactivity patients and their biological parents 										
137354	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	11	11p15.3-p14	TPH1	17999113	18018885		Unfried, G.  et al. 2001	11576585	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Obstetrics and gynecology. 2001 Oct;98(4):664-7	Tryptophan hydroxylase gene polymorphism (A218C) and idiopathic recurrent miscarriage.		191060	14476	2	2001	 The A218C polymorphism in intron 7 of the tryptophan hydroxylase gene is not associated with idiopathic recurrent miscarriage.	Case:125 women with a history of three or more consecutive pregnancy losses before 20 weeks' gestation;Control:137 healthy controls with at least two live births and no history of pregnancy loss										
137355	Y	impulsive behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Staner, L.  et al. 2002	12116193	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2002 Jul;114(5):553-7	A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study inwell-characterized impulsive inpatients.		191060	14478	2	2002	It was concluded that impulsive-aggressive behavior may be associated with the TPH genotype in well-characterized impulsive patients and that the present results stress the importance of considering impulsiveness-aggressiveness in studies investigating the relationship between suicidal behavior and TPH genotypes.	Control:27 healthy nonimpulsive controls (16 females and 11:males; age, 35.2 +/- 10.2);Case:54 consecutively admitted nonpsychotic nonorganic inpatients (20 females and 34 males; age, 38.8 +/-:11.8)										
137356	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Tan, E. C.  et al. 2003	12960746				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			Psychiatric genetics. 2003 Sep;13(3):151-4	Case-control and linkage disequilibrium studies of the tryptophan hydroxylase gene polymorphisms and major depressive disorder.		191060	14481	2	2003	 As the sample size was small, the positive association would need to be replicated by family-based association studies or in a larger set of samples. As our results did not indicate association with either of the two promoter polymorphisms, there is a need to continue the search for the causative variant directly involved in the susceptibility to unipolar depression in Chinese as this polymorphism within the intron might not be the true susceptibility variant.	Case major depressive disorder patients;Control ethnically matched controls										
137357	Y	suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Bellivier, F.  et al. 2004	14681922	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):87-91	Association between the TPH gene A218C polymorphism and suicidal behavior: a meta-analysis.		191060	14482	2	2004	A significant association was observed between the A218C polymorphism and suicidal behavior using the fixed effect method and the random effect method. The analysis of the sources of heterogeneity showed that two studies (one positive and one negative) significantly deviated from the calculated global effect. The meta-analysis performed after removing those two studies also revealed a significant association between the TPH A218C polymorphism and suicidal behavior. Both analyses suggested that the A allele has a dose-dependent effect on the risk of suicidal behavior.											
137358	Y	Alzheimer's disease; aggressive behavior	NEUROLOGICAL	NEUR	Alzheimer Disease|Psychomotor Agitation	11	11p15.3-p14	TPH1	17999113	18018885		Craig, D.  et al. 2004	15182943	218A/C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Neuroscience letters. 2004 Jun;363(3):199-202	Allelic variation at the A218C tryptophan hydroxylase polymorphism influences agitation and aggression in Alzheimer's disease		191060	14485	2	2004	We conclude that  aggression in male subjects with Alzheimer's disease may be genetically linked to polymorphic variation at the tryptophan hydroxylase gene.	Cohort 396 Alzheimer's disease patients 										
137359		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Sekizawa, T.  et al. 2004	15211625				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Japan	CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):24-6	Childhood-onset schizophrenia and tryptophan hydroxylase gene polymorphism.		191060	14486	2	2004	There was a nearly doubling of the risk for childhood-onset schizophrenia associated with the AA genotype compared to other genotype groups.	Control:148 healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia before age 16										
137360	N	smoking behavior	CHEMDEPENDENCY	CHEM		11	11p15.3-p14	TPH1	17999113	18018885		Mizuno, S.  et al. 2004	15242065	C218A			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Japanese		CDC GDPinfo	7166	Hs.591999			Journal of epidemiology. 2004 May;14(3):94-9	Association between smoking habits and tryptophan hydroxylase gene C218A polymorphism among the Japanese population.		191060	14487	2	2004	 The present study demonstrated that the TPH C218A polymorphism in intron 7 had no association with current smoking status in Japanese population. The hypothesis of early smoking initiation of A/A genotype was partially in agreement.	Cohort 591/446 first-visit outpatients of Aichi Cancer Center Hospital during 3-month period (N=591) and examinees who attended a health checkup program supported by the Nagoya municipal government in 2000 (N=446) Japan 										
137361	Y	anxiety disorder; depression	PSYCH	PSY	Depression, Postpartum|Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Sun, H. S.  et al. 2004	15544576				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Taiwanese	Taiwan	CDC GDPinfo	7166	Hs.591999			Genes, brain, and behavior. 2004 Dec;3(6):328-36	Association of tryptophan hydroxylase gene polymorphism with depression, anxiety and comorbid depression and anxiety in a population-based sample of postpartum Taiwanese women.		191060	14488	2	2004	The results suggest that depression, anxiety, and comorbid depression and anxiety disorders may have related etiologies. In addition, this study suggests that the TPH1 gene might play a role in the pathogenesis of these closely related disorders.	Case:120 subjects with depression or/and anxiety;Control:86 matched normal controls										
137362	Y	nicotine; personality trait	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Reuter, M.  et al. 2005	15635702				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):20-4	Pleiotropic effect of the TPH A779C polymorphism on nicotine dependence and personality.		191060	14489	2	2005	The positive heterosis effects with respect to nicotine addiction and personality support the idea that the TPH1 gene exerts pleiotropic effects.	Cohort 252 healthy subjects 										
137363	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.3-p14	TPH1	17999113	18018885		Sun, H. S.  et al. 2005	15654285			promoter	Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Taiwan	CDC GDPinfo	7166	Hs.591999			Alcoholism, clinical and experimental research. 2005 Jan;29(1):7-Jan	A Functional Polymorphism in the Promoter Region of the Tryptophan Hydroxylase Gene Is Associated With Alcohol Dependence in One Aboriginal Group in Taiwan		191060	14490	2	2005	 Polymorphisms in the promoter region may influence the function of the TPH1 gene and further influence the proclivity of alcohol dependence in one ethnic group in Taiwan. The associations between TPH1 genotypes and alcoholism may deserve further investigation.	Control control subjects;Case individuals with alcohol dependence from two ethnic:groups:Taiwan										
137364	Y	aggressive behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Hennig, J.  et al. 2005	15727508	A779C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Behavioral neuroscience. 2005 Feb;119(1):16-25	Two types of aggression are differentially related to serotonergic activity and the A779C TPH polymorphism.		191060	14493	2	2005	Finally, an association study with 58 volunteers revealed that the A779C TPH polymorphism significantly relates to AH, with the highest aggression levels for the genotype AA and the lowest aggression levels for the genotype CC, but not to NH. Results are discussed with respect to inconsistent findings in the literature, which may be explained by this distinction of types of aggression.	Cohort 58 volunteers 										
137365	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Lai, T. J.  et al. 2005	15799788				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			BMC medical genetics [electronic resource]. 2005 Mar;6:14	Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.		191060	14494	2	2005	 Results of this study did not support the role of TPH1 gene in BPD etiology. As the current studies found the TPH1 gene under investigation belongs to the peripheral serotonin system and may link to a cardiac dysfunction phenotype, a second TPH gene that functions predominantly in the brain (i.e., nTPH or TPH2) should be the target for the future association study.	Control:103:controls;Case:108 bipolar affective disorder patients										
137366	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.3-p14	TPH1	17999113	18018885		Anghelescu, I.  et al. 2005	15925123	218A/C		intron	Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Addictive behaviors. 2005 Jul;30(6):1135-43	The TPH intron 7 A218C polymorphism and TCI dimension scores in alcohol-dependent patients:hints to nonspecific psychopathology.		191060	14495	2	2005	 Even if there is no association between TCI dimensions and TPH genotype in our sample, hints to nonspecific psychopathology in connection with the A/A genotype are found.	Case:159 alcohol-dependent patients;Control:161:controls										
137367	N	suicide	PSYCH	PSY	Alcoholism|Recurrence	11	11p15.3-p14	TPH1	17999113	18018885		Koller, G.  et al. 2005	16109589				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Addiction biology. 2005 Sep;10(3):269-73	Tryptophan hydroxylase gene 1 polymorphisms are not associated with suicide attempts in alcohol-dependent individuals.		191060	14496	2	2005												
137368	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.3-p14	TPH1	17999113	18018885			16257348				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Alcohol (Fayetteville, NY). 2005 May;36(1):3-Jan	Tryptophan hydroxylase polymorphism is associated with age of onset of alcoholism related behaviors		191060	14497	2	2005												
137369	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885			16314762				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Korean		CDC GDPinfo	7166	Hs.591999			Psychiatric genetics. 2005 Dec;15(4):299-301	No association between the tryptophan hydroxylase gene polymorphism and major depressive disorders and antidepressant response in a Korean population		191060	14499	2	2005			antidepressants									
137370		suicide	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885			16389591				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):139-41	TPH gene polymorphism and aging: Indication ofcombined effect on the predisposition to violent suicide		191060	14500	2	2006												
137371	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.3-p14	TPH1	17999113	18018885			16389593				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):126-9	Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder in Chinese Han population		191060	14501	2	2006												
137372	Y	suicidal behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Abbar, M.  et al. 2001	11326294				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Molecular psychiatry. 2001 May;6(3):268-73	Suicide attempts and the tryptophan hydroxylase gene.		191060	19967	2	2001	a genetic variant of the 3' part of the TPH gene may be a susceptibility factor for a phenotype combining suicidal behavior, mood disorder and impulsive aggression.	Case:231 individuals who had attempted suicide;Control:281 blood donors without personal or family history of suicide attempts										
137373	Y	nicotine dependence; smoking initiation	OTHER	OTH	Tobacco Use Disorder|Disease Progression	11	11p15.3-p14	TPH1	17999113	18018885		Sullivan, P. F.  et al. 2001	11449402				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2001 Jul;105(5):479-84	Association of the tryptophan hydroxylase gene with smoking initiation but not progression to nicotine dependence.		191060	19968	2	2001	Allele, genotype, and estimated haplotype frequencies for each marker were highly significantly different for smoking initiation and were nonsignificant for progression to nicotine dependence. If these results replicate in other samples, the serotonergic system may be involved in the etiology of smoking initiation given the rate-limiting role of TPH in the biosynthesis of serotonin	Case regular smokers with a high degree of nicotine dependence from previous population-based twin studies, all subjects chosen were unrelated;Case regular smokers with a low degree of nicotine dependence from previous population-based twin studies, all subjects chosen were unrelated;Control lifetime nonsmokers selected from previous population-based twin studies, all subjects chosen were unrelated										
137374		psychosis	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia, Paranoid	11	11p15.3-p14	TPH1	17999113	18018885		Serretti, A.  et al. 2001	11472792				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Psychiatry research. 2001 Aug;103(1):79-86	Tryptophan hydroxylase gene and major psychoses.		191060	19969	2	2001	TPH*A containing variants may be a protective factor for depressive symptoms among male subjects with mood disorders or for a subtype of mood disorders characterized by a mainly manic form of symptomatology.	Case:1424 inpatients affected by bipolar (n=627), major:depressive (n=511), schizophrenic (n=210), delusional (n=48) disorder and psychotic disorder not otherwise specified (n=27);Control:380 controls not otherwise specified in abstract										
137375		smoking behavior	CHEMDEPENDENCY	CHEM		11	11p15.3-p14	TPH1	17999113	18018885		Lerman, C.  et al. 2001	11496367				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2001 Aug;105(6):518-20	Tryptophan hydroxylase gene variant and smoking behavior.		191060	19970	2	2001	This finding is consistent with previous studies relating the A-allele to impulsive behavior and suggests that it may predispose to early smoking initiation. Future family-based studies are needed to confirm this finding.	Control:202 nonsmokers recruited through newspaper:advertisements;Case:249 Caucasian smokers recruited through newspaper:advertisements	smoking (tobacco)									
137376	Y	depressive episode, major	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Serretti, A.  et al. 2001	11597824				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			European neuropsychopharmacology. 2001 Oct;11(5):375-80	Tryptophan hydroxylase gene associated with paroxetine antidepressant activity.		191060	19973	2	2001	TPH gene variants are therefore a possible modulator of paroxetine antidepressant activity.	Cohort 121 inpatients affected by a major depressive episode and treated with paroxetine 20-40 mg with either placebo or pindolol in a double blind design for 4 weeks 	paroxetine pindolol									
137377	Y	suicidal behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Lalovic, A.  et al. 2002	12116191				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics. 2002 Jul;114(5):533-40	Meta-analysis of the association between tryptophan hydroxylase and suicidal behavior.		191060	19974	2	2002	The combined results from comparisons within both groups showed no overall association between suicidal behavior and an intron 7 polymorphism of the TPH gene.											
137378	Y	anger-related traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Rujescu, D.  et al. 2002	12399958				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Molecular psychiatry. 2002 ;7(9):1023-9	Association of anger-related traits with SNPs in the TPH gene.		191060	19975	2	2002	These findings support the hypothesis that the A218C and the A779C SNP in the TPH gene may be associated with anger-related traits in German samples.	Cohort 154/86 community-based healthy volunteers (n = 154) and suicide attempters (n = 86) 										
137380		suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Stefulj, J.  et al. 2005	15808291				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Psychiatry research. 2005 Mar;134(1):67-73	Variability of the tryptophan hydroxylase gene:study in victims of violent suicide.		191060	19984	2	2005												
137381	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Gizatullin, R.  et al. 2005	16165107				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Biological psychiatry. 2005	Haplotype Analysis Reveals Tryptophan Hydroxylase (TPH) 1 Gene Variants Associated with Major Depression.		191060	19985	2	2005	 Haplotype analysis indicates that TPH-1 associates with MD. The most common TPH-1 variants appear to carry no risk, while some of the less frequent variants might contribute to genetic predisposition to MD.											
137382		depression	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Serretti, A.  et al. 2001	11526473				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Molecular psychiatry. 2001 Sep;6(5):586-92	Influence of tryptophan hydroxylase and serotonin transporter genes on fluvoxamine antidepressant activity.		191060	23803	2	2001	No significant finding was observed in the overall sample as well as in the pindolol group, while TPH*A/A was associated with a slower response to fluvoxamine treatment in subjects not taking pindolol (P = 0.001). This effect was independent from the previously reported influence of 5-HTTLPR polymorphism. If confirmed, these results may shed further light on the genetically determined component of the response to pharmacological treatments, thus helping the clinician to individualize each patient's therapy according to their genetic pattern.	Cohort 217 inpatients treated with fluvoxamine and either placebo or pindolol 	fluvoxamine pindolol									
137383		suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Ohtani, M.  et al. 2004	14998306				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Japanese		CDC GDPinfo	7166	Hs.591999			The Tohoku journal of experimental medicine. 2004 Feb;202(2):123-33	Polymorphisms of the tryptophan hydroxylase gene and serotonin 1A receptor gene in suicide victims among Japanese.		191060	23804	2	2004	In conclusion, no significant relation could be established statistically concerning the serotonin related genes between the suicide samples and control samples in Akita.	Case:134 suicide victims:Japan;Control:325 healthy volunteers										
137384	N	personality traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Tsai, S. J.  et al. 2003	14504413				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Neuropsychobiology. 2003 ;48(2):68-71	Allelic variants of the tryptophan hydroxylase (A218C) and serotonin 1B receptor (A-161T) and personality traits.		191060	23805	2	2003	Our negative findings suggest that the TPH A218C and HTR1B polymorphisms do not play major roles in the determination of TPQ personality traits.	Cohort 209 young healthy Chinese 										
137385	N	anxiety disorder; alcoholism; panic disorder; narcolepsy	PSYCH	PSY	Narcolepsy|Alcoholism|Anxiety Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Fehr, C.  et al. 2001	11444684				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Progress in neuro-psychopharmacology & biological psychiatry. 2001 Jul;25(5):965-82	Serotonergic polymorphisms in patients suffering from alcoholism, anxiety disorders and narcolepsy.		191060	23806	2	2001	Allele and genotype frequencies of the 5-HT2A receptor polymorphism (T102C), the intron 7 TPH polymorphism (A218C) were almost similar between the patients suffering from alcohol dependence, panic disorder, generalized anxiety disorder and narcolepsy. 4. There was no association between the 5-HT2A receptor polymorphism (T102C), the intron 7 TPH (A218C) polymorphisms and alcohol dependence, panic disorder, generalized anxiety disorder and narcolepsy in our subsets of German patients.	Case:176/35/50/55 176 alcohol dependent patients, 35 patients with panic disorder, 50 patients with generalized anxiety disorder, 55 patients with narcolepsy:Germany;Control:87 healthy controls										
137386	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Yoshida, K.  et al. 2002	12502014				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Japanese		CDC GDPinfo	7166	Hs.591999			Progress in neuro-psychopharmacology & biological psychiatry. 2002 Dec;26(8-Jul):1279-83	Monoamine oxidase: A gene polymorphism, tryptophanhydroxylase gene polymorphism and antidepressant response to fluvoxamine in Japanese patients with major depressive disorder.		191060	23807	2	2002	The present study fails to demonstrate that the genetic polymorphisms of MAOA-VNTR and TPH-A218C affect the antidepressant effect of fluvoxamine in Japanese patients with major depressive disorder.	Cohort 54 Japanese patients with major depressive disorder 	fluvoxamine									
137387		depressed suicide; suicide due to depression	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Du, L.  et al. 2000	11343598				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			The international journal of neuropsychopharmacology. 2000 Sep;3(3):215-220	Tryptophan hydroxylase gene 218A/C polymorphism is not associated with depressed suicide.		191060	23808	2	2000	The frequency of the L/L genotype in depressed suicide victims was almost double of that found in control group (48.6 vs. 26.2%). The odds ratio for the L allele associated with depressed suicide was 2.1 (95% CI, 1.2-3.7). The relatively small sample size does not exclude the possibility of false-positive results and the finding needs replication.	Case:35 depressed suicide victims;Control:84` control subjects of the same ethnic background										
137388		nausea	OTHER	OTH	Nausea|Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Takahashi, H.  et al. 2002	12208565				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			European neuropsychopharmacology. 2002 Oct;12(5):477-81	No association between the serotonergic polymorphisms and incidence of nausea induced by fluvoxamine treatment.		191060	23809	2	2002	Results suggested that these three polymorphisms did not affect the development of fluvoxamine-induced nausea, and that incidence of nausea was not a phenomenon that predicts the treatment response to fluvoxamine.	Cohort 66 patients treated with fluvoxamine in a protocolized-dosing method. 	fluvoxamine									
137389		suicide	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Jernej, B.  et al. 2004	15168220				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Croatia	CDC GDPinfo	7166	Hs.591999			J Neural Transm. 2004 Jun;111(6):733-8	Intronic polymorphism of tryptophan hydroxylase and serotonin transporter: indication for combinedeffect in predisposition to suicide		191060	23810	2	2004	Concurrent presence of the two, allegedly transcriptionally less active, variants of these genes seems to be in some kind of relation to the increased susceptibility to suicide.	Case:192 suicide victims;Control:377:controls										
137390		anxiety disorder	PSYCH	PSY	Anxiety Disorders	11	11p15.3-p14	TPH1	17999113	18018885		You, J. S.  et al. 2005	15722951				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			Psychiatric genetics. 2005 Mar;15(1):11-Jul	Serotonin transporter and tryptophan hydroxylase gene polymorphisms in Chinese patients with generalized anxiety disorder.		191060	23811	2	2005	 Our findings support that the presence of 5-HTTLPR-SS genotype may increase the risk of GAD.	Case:138 patients with generalized anxiety disorder;Control:90 healthy controls										
137391		depressive disorder, major; bipolar disorder; affective psychoses	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Cusin, C.  et al. 2001	11578639				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Journal of psychiatric research. 2001 Jul-Aug;35(4):217-23	Influence of 5-HTTLPR and TPH variants on illness time course in mood disorders.		191060	23812	2	2001	Our results suggest that 5-HTTLPR variants may confer a susceptibility toward rapid cycling mood disorders.	Case:435/399 inpatients affected by major depressive (MD, n=153), bipolar (BP, n=213) and rapid cycling (n=69) mood disorders genotyped for SLC6A4(n=435) and MD, n=132; BP, n=203; rapid cycling n=64 genotyped for TPH (n=399);Control:456/259 controls genotyped for SLC6AA4 (n=456) and TPH:(n=259)										
137392		suicide	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Courtet, P.  et al. 2004	14706424				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Biological psychiatry. 2004 Jan;55(1):46-51	Serotonin transporter gene may be involved in short-term risk of subsequent suicide attempts.		191060	23813	2	2004	 These results suggest that the 5-HTTLPR SS genotype is associated with further suicide attempts among patients who have previously attempted suicide.	Cohort 103 patients hospitalized after a suicide attempt followed-up after 1 year 										
137393		depressive disorder, major; bipolar disorder	PSYCH	PSY	Mood Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Serretti, A.  et al. 2004	15274037				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):36-40	Further evidence of a combined effect of SERTPR and TPH on SSRIs response in mood disorders.		191060	23814	2	2004	Thus, the previous positive association was not fully replicated for TPH. The present independent replication confirms SERTPR variants as a liability factor for antidepressant efficacy while the TPH effect is not unequivocal.	Cohort 221 inpatients (major depressives = 128, bipolar disorder = 93) 	fluvoxamine paroxetine									
137394		personality disorders	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Ham, B. J.  et al. 2004	14698468				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Korean		CDC GDPinfo	7166	Hs.591999			Neuroscience letters. 2004 Jan;354(1):5-Feb	Serotonergic genes and personality traits in the Korean population		191060	25735	2	2004	Our result suggested that 5-HT(2A) receptor gene polymorphism (A-1438G) appears to be associated with self-determinism and self-transcendence (ST). Our result also indicated a significant relationship between 5-HT(6) receptor gene polymorphism (C267T) and ST. Further studies of polymorphisms of other genes and their interactions may clarify the complex relationship between personality and genes.	Cohort 146 healthy adults with no history of psychiatric disorders or other physical illness during the last 6 months Korea 										
137395		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder|Bipolar Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Rotondo, A.  et al. 2002	11772685				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Italy	CDC GDPinfo	7166	Hs.591999			The American journal of psychiatry. 2002 Jan;159(1):23-9	Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder.		191060	25736	2	2002	 The findings support the hypothesis that comorbid panic disorder identifies a genetic subtype of bipolar disorder and suggest a role for COMT and 5-HTT in vulnerability to these disorders.	Control:127 healthy subjects;Control:49 unrelated subjects of Italian descent with bipolar disorder without comorbid lifetime panic disorder;Case:49 unrelated subjects of Italian descent with bipolar disorder with comorbid lifetime panic disorder										
137396		schizophrenia; bipolar disorder; affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Mood Disorders|Bipolar Disorder|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Chotai, J.  et al. 2003	12860364				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Italy	CDC GDPinfo	7166	Hs.591999			Psychiatry research. 2003 Jul;119(2-Jan):99-111	Gene-environment interaction in psychiatric disorders as indicated by season of birth variations in tryptophan hydroxylase (TPH), serotonin transporter (5-HTTLPR) and dopamine receptor (DRD4) gene polymorphisms.		191060	25737	2	2003	Our results thus suggest an interaction between the seasons of birth and the expression of the candidate genes, and that season of birth is a confounding variable when investigating the role of the candidate genes in susceptibility to psychiatric disorders.	Control:395:controls;Case:954 patients with unipolar affective disorder, bipolar affective disorder, and schizophrenia										
137397		schizophrenia; bipolar disorder; psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Chotai, J.  et al. 2004	15627807				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Neuropsychobiology. 2005 ;51(1):9-Mar	Interaction between the tryptophan hydroxylase gene and the serotonin transporter gene in schizophrenia but not in bipolar or unipolar affective disorders.		191060	25738	2	2004	Thus, an interaction between TPH and 5-HTTLPR genes constitutes susceptibility to schizophrenia, thereby yielding apparent relationships between the major psychiatric symptomatology scores and genotype combinations in samples that are obtained by pooling schizophrenia with other diagnostic categories.	Control:241:controls;Case:814 patients comprising 114 with schizophrenia, 416 with bipolar affective disorder and 284 with unipolar affective disorder										
137398		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Segman, R. H.  et al. 2003	14583797				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			The pharmacogenomics journal. 2003 ;3(5):277-83	Association of dopaminergic and serotonergic genes with tardive dyskinesia in patients with chronic schizophrenia.		191060	26727	2	2003	No significant associations were found. Within the limitations imposed by the size of the clinical sample, these findings suggest that the above polymorphic loci do not contribute significantly to risk for TD. Further examination of loci that yielded positive results at a trend level and investigation of other candidate genetic loci coding for antipsychotic drug targets is warranted.	Case:59 schizophrenic patients with tardive dyskinesia:patients;Control:63 schizophrenic patients without tardive dyskinesia										
137399		mood disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885			16319504				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Neuropsychobiology. 2005 Nov;53(1):16-Sep	Temperament and Character in Mood Disorders:Influence of DRD4, SERTPR, TPH and MAO-A Polymorphisms		191060	26728	2	2005												
137400		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Maron, E.  et al. 2005	15670397				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			The international journal of neuropsychopharmacology. 2005 Jun;8(2):261-6	Associations between serotonin-related gene polymorphisms and panic disorder.		191060	26729	2	2005	These findings indicate that genetic variants conceivably related to lower 5-HT neurotransmission may be involved in the development of PD.	Case:158 patients with panic disorder;Control:215 healthy controls										
137401		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Serretti, A.  et al. 2004	15475734				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Pharmacogenetics. 2004 Sep;14(9):607-13	Pharmacogenetics of selective serotonin reuptake inhibitor response: a 6-month follow-up.		191060	26730	2	2004	 Some subjects showing remission after acute treatment relapsed within 6 months, despite undertaking a maintenance treatment; the causes could be heterogeneous, but CLOCK gene variants may influence the outcome.	Cohort 185 inpatients affected by recurrent major depression consecutively admitted to the Psychiatric Inpatient Unit of San Raffaele Hospital 1998n - 2003 	antidepressants									
137402		depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Hong, C. J.  et al. 2005	16302021				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Chinese		CDC GDPinfo	7166	Hs.591999			The pharmacogenomics journal. 2006 Jan-Feb;6(1):27-33	Response to fluoxetine and serotonin 1A receptor (C-1019G) polymorphism in Taiwan Chinese major depressive disorder.		191060	27313	2	2005			fluoxetine									
137403		anorexia nervosa; bulimia	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Tozzi, F.  et al. 2002	12473966				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Psychopharmacology bulletin. 2002 ;36(3):60-90	Candidate gene studies in eating disorders.		191060	27314	2	2002	Review article											
137404	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Eley, T. C.  et al. 2004	15241435				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Molecular psychiatry. 2004 Oct;9(10):908-15	Gene-environment interaction analysis of serotonin system markers with adolescent depression.		191060	27315	2	2004	HTR2A and TPH significantly predicted the depression group, independent of the effects of sex, environmental risk group and their interaction. In addition, there was a trend for an effect of 5HTTLPR, which was significant in female subjects. Furthermore, there was a significant genotype-environmental risk interaction for 5HTTLPR in female subjects only, with the effect being in the same direction as another recent study, reaffirming that an important source of genetic heterogeneity is exposure to environmental risk.	Cohort 377 adolescents selected from 1990 adolescents aged 10-20 years 										
137405		depressive disorder, major	PSYCH	PSY	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Peters, E. J.  et al. 2004	15052272				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		191060	27660	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
137406	Y	self-harm behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Pooley, E. C.  et al. 2003	12877392				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		191060	27661	2	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
137407		bipolar disorder; depression	PSYCH	PSY	Mood Disorders|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Lerer, B.  et al. 2002	12366879				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			The international journal of neuropsychopharmacology. 2002 Sep;5(3):255-75	Pharmacogenetics of antidepressant and mood-stabilizing drugs: a review of candidate-genestudies and future research directions		191060	27872	2	2002	Review article		fluoxetine fluvoxamine paroxetine pindolol TCA									
137409	Y	suicide	PSYCH	PSY	Postmortem Changes	12	12q21.1	TPH2	70618892	70712488		Zill, P.  et al. 2004	15476687				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Biological psychiatry. 2004 Oct;56(8):581-6	Single nucleotide polymorphism and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene in suicide victims.		607478	14502	2	2004	 This is the first report about an association between TPH2 gene polymorphisms and completed suicide. Our findings provide evidence for an involvement of genetic variants in the TPH2 gene in suicidal behavior. These results might open up new research strategies for the analysis of the observed disturbances in the serotonergic system in several other psychiatric disorders.	Case:263 suicide victims;Control:266 healthy control subjects										
137410	N	suicide	PSYCH	PSY	Schizophrenia	12	12q21.1	TPH2	70618892	70712488		De Luca, V.  et al. 2005	15840421			promoter	Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Psychiatry research. 2005 Apr;134(2):195-8	Promoter polymorphism of second tryptophan hydroxylase isoform (TPH2) in schizophrenia and suicidality.		607478	14503	2	2005	These findings suggest that these 5' marker haplotypes in the TPH2 gene do not influence suicidal behavior in schizophrenia.	Control:170 non-suicidal schizophrenic patients;Case:83 suicidal schizophrenic patients										
137411		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	12	12q21.1	TPH2	70618892	70712488		Zill, P.  et al. 2004	15124006				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Molecular psychiatry. 2004 Nov;9(11):1030-6	SNP and haplotype analysis of a novel tryptophan hydroxylase isoform (TPH2) gene provide evidence for association with major depression.		607478	19987	2	2004	These results may open up new research strategies for the analysis of the observed disturbances in the serotonergic system in patients suffering from several other psychiatric disorders.	Control:265 healthy controls;Case:300 depressed patients										
137413		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	12	12q21.1	TPH2	70618892	70712488		Walitza, S.  et al. 2005	16116490				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Molecular psychiatry. 2005 Dec;10(12):1126-32	Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in attention-deficit/hyperactivity disorder.		607478	19989	2	2005												
137415		depressive disorder, major	PSYCH	PSY	Depressive Disorder	12	12q21.1	TPH2	70618892	70712488		Peters, E. J.  et al. 2004	15052272				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		607478	27873	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
137416	Y	cardiovascular	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic	15	15q22.1	TPM1	61121890	61151166		Yamauchi-Takihara K et al. 1996	8774330				Tropomyosin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018005.1		Japan	KGB	7168	Hs.133892			Heart (British Cardiac Society). 1996 Jul;76(1):63-5	Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.		191010	6272	1	1996	 Among Japanese patients with familial HCM mutations in the alpha-tropomyosin gene are not as rare as reported, accounting for about 5% of all cases. These mutations are characterised by hypertrophy of the left ventricle which then progresses to dilatation and a high incidence of sudden or disease-related death.											
137417	Y	nemaline myopathy	OTHER	OTH	Myopathies, Nemaline	15	15q22.1	TPM1	61121890	61151166		Laing NG et al. 1995	7704029				Tropomyosin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018005.1			KGB	7168	Hs.133892			Nature genetics. 1995 Jan;9(1):75-9	A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.		191010	6273	1	1995	The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif.											
137418		hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	15	15q22.1	TPM1	61121890	61151166		Van Driest SL 2003	12860912				Tropomyosin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018005.1	outpatient referral population	Minnesota	KGB	7168	Hs.133892			Circulation. 2003 Jul;108(4):445-51	Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.		191010	6274	1	2003	 Mutations in genes encoding thin filament proteins are less prevalent in HCM than previously estimated. Patients with mutations in troponin T, troponin I, alpha-tropomyosin, and actin do not invariably present with any distinct clinical feature, thus limiting the utility of gene status for risk stratification or of clinical phenotype in guiding individual genetic screening at this time.											
137419		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Disease Progression	15	15q22.1	TPM1	61121890	61151166		Van Driest, S. L.  et al. 2002	12473556				Tropomyosin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018005.1		Minnesota	CDC GDPinfo	7168	Hs.133892			Circulation. 2002 Dec;106(24):3085-90	Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy.		191010	25739	2	2002	 These findings demonstrate the rarity of specific mutations in HCM and challenge the notion of mutation-specific clinical outcomes. Fewer than 2% of the subjects harbored a benign mutation, and those patients with a benign mutation experienced a very serious clinical course.	Cohort 293 unrelated hypertrophic cardiomyopathy patients 										
137420		thiopurine	OTHER	OTH		6	6p22.3	TPMT	18236523	18263353		Indjova D 2003	14508387				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	unknown		KGB	7172	Hs.444319			Therapeutic drug monitoring. 2003 Oct;25(5):631-6	Phenotypic and genotypic analysis of thiopurine s-methyltransferase polymorphism in the bulgarian population.		187680	6275	1	2003	These data show a similar distribution of TPMT activity among the Bulgarian population investigated as in most other white populations with the frequency of intermediate metabolizers being somewhat lower (7.4% versus approximately 11%) in the Bulgarians. The most common variant allele was TPMT-3A, as in other white populations.	Cohort 313 Bulgarians										
137421	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353	n	Gearry RB 2003	12940924				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			KGB	7172	Hs.444319			Alimentary pharmacology & therapeutics. 2003 Aug;18(4):395-400	Thiopurine S-methyltransferase (TPMT) genotype does not predict adverse drug reactions to thiopurine drugs in patients with inflammatory bowel disease.		187680	6276	1	2003	 The TPMT allele frequency in our population with inflammatory bowel disease is similar to that reported elsewhere. There was a slight trend for more frequent TPMT mutations in the patients with adverse reactions, but this was not statistically significant. Most patients with reactions did not have gene mutations.	Case:50 patients with inflammatory bowel disease who had been treated with azathioprine or mercaptopurine and had severe adverse effects;Control:50 patients with inflammatory bowel disease who had been treated and tolerated azathioprine or:mercaptopurine										
137422		leukemia	CANCER	CAN		6	6p22.3	TPMT	18236523	18263353		Hiratsuka, M.  et al. 2000	10751626				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Japanese		CDC GDPinfo	7172	Hs.444319			Mutation research. 2000 Mar;448(1):91-5	Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population.		187680	14504	2	2000	This study provides the first analysis of TPMT mutant allele frequency in a sample of Japanese population and indicates that TPMT*3C is the most common allele in Japanese subjects.	Cohort 192 unrelated healthy Japanese volunteers Japan 										
137423		thiopurine S-methyltransferase phenotype	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Kubota, T.  et al. 2001	11422006	(TPMT*2, *3A, *3B and *3C)			Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Japanese		CDC GDPinfo	7172	Hs.444319			British journal of clinical pharmacology. 2001 May;51(5):475-7	Frequencies of thiopurine S-methyltransferase mutant alleles (TPMT*2, *3A, *3B and *3C) in 151 healthy Japanese subjects and the inheritance of TPMT*3C in the family of a propositus.		187680	14505	2	2001	 TPMT*3C appears to be most prevalent among the known mutant allele of TPMT in a Japanese population which may have some relevance for the treatment of Japanese patients with thiopurine drugs.	Cohort 151 Japanese subjects Japan 										
137424		thiopurine toxicity	UNKNOWN	UNK		6	6p22.3	TPMT	18236523	18263353		Chang, J. G.  et al. 2002	11927834				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Pharmacogenetics. 2002 Apr;12(3):191-5	Molecular analysis of thiopurine S-methyltransferase alleles in South-east Asian populations.		187680	14506	2	2002	This study provides the first analysis of the allele frequency distribution of all known TPMT mutations in South-east Asian populations.	Cohort 100 Indonesian individuals Cohort 100 Philippine individuals Cohort 100 Thai individuals Cohort 249 Taiwanese individuals 										
137425		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute	6	6p22.3	TPMT	18236523	18263353		Kham, S. K.  et al. 2002	12142782				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2		Malaysia|Singapore|India|China	CDC GDPinfo	7172	Hs.444319			Journal of pediatric hematology/oncology. 2002 Jun-Jul;24(5):353-9	Thiopurine methyltransferase polymorphisms in a multiracial asian population and children with acute lymphoblastic leukemia.		187680	14507	2	2002	These results support the feasibility of performing TPMT genotyping in all children diagnosed with acute leukemia to minimize toxicity from thiopurine chemotherapy.	Cohort 600 unrelated cord blood samples from 200 Chinese, Malay, and Indian healthy newborns 	6-mercaptopurine									
137426		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Nausea|Vomiting	6	6p22.3	TPMT	18236523	18263353		Corominas, H.  et al. 2003	12509611				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Rheumatology (Oxford, England). 2003 Jan;42(1):40-5	Is thiopurine methyltransferase genetic polymorphism a major factor for withdrawal of azathioprine in rheumatoid arthritis patients?		187680	14508	2	2003	 In this observational study, the absence of response, probably due to the low-dose scheme used, was the major cause of AZA withdrawal in our series of RA patients. TPMT genotyping may allow the use of high doses of AZA in patients with normal TPMT alleles to improve the efficacy of this immunosuppressive drug. Our data support the relationship between gastrointestinal intolerance and thiopurine metabolic imbalance.	Cohort 111 patients with long-standing rheumatoid arthritis 	azathioprine									
137428		thiopurine methyltransferase activity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	6	6p22.3	TPMT	18236523	18263353		Boson, W. L.  et al. 2003	12815366				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2		Brazil	CDC GDPinfo	7172	Hs.444319			The pharmacogenomics journal. 2003 ;3(3):178-82	Thiopurine methyltransferase polymorphisms in a Brazilian population.		187680	14510	2	2003	This study provides the first analysis of TPMT mutant allele frequency in a sample of the Brazilian population.	Cohort a sample of the Brazilian population Brazil 										
137429		thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Larovere, L. E.  et al. 2003	12880540				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Annals of clinical biochemistry. 2003 Jul;40(Pt 4):388-93	Genetic polymorphism of thiopurine S-methyltransferase in Argentina.		187680	14511	2	2003	 Variant TPMT alleles were present in 8.2% of the examined subjects, which is in accordance with other studies. The frequency of TPMT*3A, TPMT*2 and TPMT*4 was 3.1%, 0.7% and 0.3%, respectively. TPMT*3A was the most prevalent allele, which is in accordance with results from Caucasian populations. This study provides the first analysis of TPMT activity and allele frequency distribution in Argentina, South America.	Cohort 147 healthy Argentine subjects 										
137430		nemaline myopathy	OTHER	OTH		6	6p22.3	TPMT	18236523	18263353		Zhang, J.  et al. 2003	12903038				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Chinese		CDC GDPinfo	7172	Hs.444319			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):303-6	[Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province]		187680	14512	2	2003	 The PCR-SSCP assay established and adopted in this study was sensitive and reliable, which could be used to detect mutant TPMT alleles. Allele frequency of TPMT*3C is low among Jing Chinese (1.0%), and TPMT*3C appears to be the most prevalent deleterious allele in this population.	Cohort 103 Jing Chinese Guangxi province, China 										
137431		thiopurine	OTHER	OTH		6	6p22.3	TPMT	18236523	18263353		Indjova, D.  et al. 2003	14508387				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Therapeutic drug monitoring. 2003 Oct;25(5):631-6	Phenotypic and genotypic analysis of thiopurine s-methyltransferase polymorphism in the bulgarian population.		187680	14513	2	2003	These data show a similar distribution of TPMT activity among the Bulgarian population investigated as in most other white populations with the frequency of intermediate metabolizers being somewhat lower (7.4% versus approximately 11%) in the Bulgarians. The most common variant allele was TPMT-3A, as in other white populations.	Cohort 313 Bulgarians 										
137432		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353		Haglund, S.  et al. 2003	14656901				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Swedish	Sweden	CDC GDPinfo	7172	Hs.444319			Clinical chemistry. 2004 Feb;50(2):288-95	Pyrosequencing of TPMT alleles in a general Swedish population and in patients with inflammatory bowel disease.		187680	14514	2	2003	 Next to wild type, the most frequent alleles in Sweden are TPMT*3A and TPMT*3C. A previously established phenotypic cutoff for distinguishing normal from intermediate metabolizers was confirmed. To identify the majority of cases (90%) with low or intermediate TPMT activity, it was sufficient to analyze individuals for only 3 of the 10 SNPs investigated. Nevertheless, this investigation indicates that other mutations might be of relevance for decreased enzymatic activity.	Cohort 800/24/6 individuals from the Swedish population (n=800), patients with inflammatory bowel disease (n=24) and volunteers (n=6) 										
137433	Y	leukemia	CANCER	CAN	Leukemia|Acute Disease	6	6p22.3	TPMT	18236523	18263353		Ma, X. L.  et al. 2003	14723818				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Dec;41(12):929-33	[Relationship between single nucleotide polymorphisms in thiopurine methyltransferase gene and tolerance to thiopurines in acute leukemia]		187680	14515	2	2003	 TPMT genotype is associated with tolerance in acute leukemia in children. The heterozygote individuals have low TPMT activity. Therefore the frequencies of hemtopoietic toxicity and hepatoxicity are high after using 6-MP. Detection of SNPs in the TPMT genes is useful in identifying children before administration of 6-MP.	Control:250 Chinese healthy blood donors;Case:280 children with acute leukemia										
137434		thiopurine S-methytransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Wusk, B.  et al. 2004	14985890				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			European journal of clinical pharmacology. 2004 Mar;60(1):10-May	Thiopurine S-methyltransferase polymorphisms:efficient screening method for patients considering taking thiopurine drugs		187680	14516	2	2004	 This study defines the cut-off value for the TPMT phenotyping assay at 45.5 nmol/g*Hb*h(-1), beyond which additional genotyping elucidates the individual risk for drug therapy. Using this cut-off concentration, the number of genotyping assays could be reduced by about 60%.	Cohort 240 unrelated Caucasian subjects 										
137435		inflammatory bowel disease	IMMUNE	IMM		6	6p22.3	TPMT	18236523	18263353		Srimartpirom, S.  et al. 2004	15206995				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Thai		CDC GDPinfo	7172	Hs.444319			British journal of clinical pharmacology. 2004 Jul;58(1):66-70	Thiopurine S-methyltransferase genetic polymorphism in the Thai population		187680	14517	2	2004	 Although the TPMT*3C is the most prevalent mutant allele in Asian populations, the frequency of this defective allele is significantly higher in Thais than has been reported in other Asian populations.	Cohort 200 healthy Thais Thailand 										
137436	Y	drug hypersensitivity	METABOLIC	MET	Leukopenia	6	6p22.3	TPMT	18236523	18263353		Fabre, M. A.  et al. 2004	15349717				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Transplant international. 2004 Oct;17(9):531-9	The impact of thiopurine S-methyltransferase polymorphisms on azathioprine dose 1 year after renal transplantation		187680	14518	2	2004	We concluded that when azathioprine is administered at an initial dose of 1.5 mg/kg per day, both coding and promoter TPMT polymorphisms influence the dose tolerated.	Cohort 172 renal transplant patients receiving an initial azathioprine dose of 1.5 mg/kg per day 	azathioprine									
137437		thiopurine S-methyltransferase phenotype	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Kurzawski, M.  et al. 2004	15385838				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Polish		CDC GDPinfo	7172	Hs.444319			Therapeutic drug monitoring. 2004 Oct;26(5):541-5	Frequency distribution of thiopurine S-methyltransferase alleles in a polish population.		187680	14519	2	2004	The general pattern of TPMT allele disposition in the Polish population is similar to those determined for other white populations, but the frequency of total variant alleles is lower than in other European populations studied to date.	Cohort 358 unrelated healthy Polish subjects of Caucasian origin 										
137438		kidney transplant; azathioprine toxicity	PHARMACOGENOMIC	PHARM	Bone Marrow Diseases|Leukopenia	6	6p22.3	TPMT	18236523	18263353		Kurzawski, M.  et al. 2005	16044099				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Therapeutic drug monitoring. 2005 Aug;27(4):435-41	The impact of thiopurine s-methyltransferase polymorphism on azathioprine-induced myelotoxicity in renal transplant recipients.		187680	14520	2	2005												
137440		azathioprine toxicity	PHARMACOGENOMIC	PHARM	Lupus Erythematosus, Systemic	6	6p22.3	TPMT	18236523	18263353			16396707				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Clinical and experimental rheumatology. 2005 Nov-Dec;23(6):873-6	Thiopurine S-methyltransferase polymorphisms and the relationship between the mutant alleles and the adverse effects in systemic lupus erythematosus patients taking azathioprine		187680	14522	2	2005	 Contrary to previous hypotheses, this study identified no statistical correlation between TPMT genotype and AZA toxicity. We thus conclude that TMPT genotyping cannot replace regular blood monitoring in SLE patients receiving AZA treatment.											
137441		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	6	6p22.3	TPMT	18236523	18263353		Corominas, H.  et al. 2000	11007234				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2		Netherlands|Spain	CDC GDPinfo	7172	Hs.444319			The American journal of gastroenterology. 2000 Sep;95(9):2313-7	Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls.		187680	19992	2	2000	 Genotyping methods provide a simple and reliable screening to identify patients with a high risk of developing severe bone marrow toxicity if treated with thiopurine drugs. In UC patients, TPMT genotype should be determined before the initiation of azathioprine therapy.	Case:146 UC patients with a similar genetic background to:controls;Control:213 unrelated healthy blood donors:Spanish/Dutch										
137442		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	6	6p22.3	TPMT	18236523	18263353		Hongeng, S.  et al. 2000	11025471				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Thai	Thailand	CDC GDPinfo	7172	Hs.444319			Medical and pediatric oncology. 2000 Oct;35(4):410-4	Frequency of thiopurine S-methyltransferase genetic variation in Thai children with acute leukemia.		187680	19993	2	2000	 There is no difference in the frequency of this genetic variation between Asian and North American Caucasian populations. Determination of the TPMT genotype by PCR method before antileukemic therapy is practical and may have clinical relevance. This knowledge could be applied towards organ transplant recipients who require these medications for immunosuppression.	Cohort 75 Thai children with acute leukemia at the time of remission Thailand 										
137443		thiopurine S-methyltransferase phenotype	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Loennechen, T.  et al. 2001	11503013				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Caucasian		CDC GDPinfo	7172	Hs.444319			Clinical pharmacology and therapeutics. 2001 Aug;70(2):183-8	Detection of one single mutation predicts thiopurine S-methyltransferase activity in a population of Saami in northern Norway.		187680	19994	2	2001	In a Norwegian population, comprising both the major Caucasian population and a minor Saami population, the same genotyping tests (eg, tests for the A719G and G460A mutations) may be used.	Cohort 194 Saamis Norway Cohort 66 Caucasians in northern Norway Norway 										
137444		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Neutropenia	6	6p22.3	TPMT	18236523	18263353		Schwab, M.  et al. 2002	12172211				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Pharmacogenetics. 2002 Aug;12(6):429-36	Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact ofthiopurine S-methyltransferase polymorphism.		187680	19995	2	2002	This study demonstrates that azathioprine-related gastrointestinal side effects are independent of the TPMT polymorphism. Nevertheless pharmacogenetic testing for TPMT prior to commencing thiopurine therapy should become routine practice in order to avoid severe hematotoxicity in TPMT deficient patients and lowering the incidence of hematological side effects in individuals heterozygous for TPMT.	Cohort 93 adults with inflammatory bowel disease 	azathioprine									
137445		thiopurine methyltransferase phenotype	METABOLIC	MET	Hepatitis, Autoimmune	6	6p22.3	TPMT	18236523	18263353		Langley, P.  et al. 2002	12217596				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Journal of hepatology. 2002 Oct;37(4):441-7	Thiopurine methyltransferase phenotype and genotype in relation to azathioprine therapy in autoimmune hepatitis.		187680	19996	2	2002	 TPMT phenotyping or genotyping may be advisable before institution of azathioprine therapy in AIH but neither approach invariably predicts response to the drug.	Cohort 72 consecutive outpatients with autoimmune hepatitis 	azathioprine									
137446		Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p22.3	TPMT	18236523	18263353		Reuther, L. O.  et al. 2003	12492733				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Danish		CDC GDPinfo	7172	Hs.444319			Alimentary pharmacology & therapeutics. 2003 Jan;17(1):65-8	Thiopurine methyltransferase genotype distribution in patients with Crohn's disease.		187680	19997	2	2003	 The study showed a TPMT genotype distribution amongst adult Danish patients with Crohn's disease which was similar to the distribution of TPMT variant alleles normally found in healthy Caucasians.	Cohort 64/56 randomly selected Danish patients 										
137447	N	thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Marinaki, A. M.  et al. 2003	12563179				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Caucasian		CDC GDPinfo	7172	Hs.444319			Pharmacogenetics. 2003 Feb;13(2):97-105	Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians		187680	19998	2	2003	 Our results suggest that TPMT gene VNTRs do not significantly modulate enzyme activity.	Cohort 85/108/53 British Asians (n=85) and patients with intermediate TMPT activity ranges (n=108) and normal ranges (n=53) 										
137448		thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Reis, M.  et al. 2003	12777968				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Pharmacogenetics. 2003 Jun;13(6):371-3	Thiopurine methyltransferase phenotypes and genotypes in Brazilians.		187680	19999	2	2003	The allele frequencies of TPMT*2, TPMT*3A and TPMT*3C did not differ between individuals classed as Euro-derived (0.76%, 2.03% and 2.54%, respectively) or having interethnic admixture (0.60%, 1.81% and 1.81%, respectively). Furthermore, within each of these groups, the frequencies of TPMT*3A and TPMT*3C were not significantly different.	Cohort 306 healthy Brazilians who were classed, on the basis of self-declared colour and ancestry, as Euro-derived (n = 81), Afro-derived (n = 18) or having interethnic admixture (n = 204) 										
137449	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353		Gearry, R. B.  et al. 2003	12940924				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Alimentary pharmacology & therapeutics. 2003 Aug;18(4):395-400	Thiopurine S-methyltransferase (TPMT) genotype does not predict adverse drug reactions to thiopurine drugs in patients with inflammatory bowel disease.		187680	20000	2	2003	 The TPMT allele frequency in our population with inflammatory bowel disease is similar to that reported elsewhere. There was a slight trend for more frequent TPMT mutations in the patients with adverse reactions, but this was not statistically significant. Most patients with reactions did not have gene mutations.	Case:50 patients with inflammatory bowel disease who had been treated with azathioprine or mercaptopurine and had severe adverse effects;Control:50 patients with inflammatory bowel disease who had been treated and tolerated azathioprine or:mercaptopurine										
137450		leukemia	CANCER	CAN		6	6p22.3	TPMT	18236523	18263353		Isaza, C.  et al. 2003	12949626				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Colombian		CDC GDPinfo	7172	Hs.444319			Methods and findings in experimental and clinical pharmacology. 2003 Jul-Aug;25(6):423-9	Allelic variants of the thiopurine methyltransferase (TPMT) gene in the Colombian population.		187680	20001	2	2003	These results show that the frequency of mutations and the allelic distribution of the TPMT gene in the Colombian population are similar to the genetic profile found among US and European Caucasian populations, where the *3A allele is prevalent and the *2 allele is currently present.	Cohort 140 Colombian volunteers of Mestizo origin Colombia 										
137451	N	azathioprine tolerance	PHARMACOGENOMIC	PHARM		6	6p22.3	TPMT	18236523	18263353		Reuther, L. O.  et al. 2003	14634700				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			European journal of clinical pharmacology. 2004 Jan;59(11):797-801	Thiopurine methyltransferase (TPMT) genotype distribution in azathioprine-tolerant and -intolerant patients with various disorders. The impact of TPMT genotyping in predicting toxicity.		187680	20002	2	2003	 Although TPMT genotyping cannot be recommended on behalf of the present study, it is to be expected that half of the patients with one or two non-functional TPMT mutant alleles will develop Aza intolerance leading to withdrawal of therapy. Thus, clinicians may anticipate about 5% of the patients to develop intolerance to Aza therapy solely for that reason.	Cohort 46/6 Aza-tolerant (n=46) and Aza-intolerant (n=6) patients 	azathioprine									
137452		leukemia	CANCER	CAN		6	6p22.3	TPMT	18236523	18263353		Zhang, J. P.  et al. 2004	14985891				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Chinese		CDC GDPinfo	7172	Hs.444319			European journal of clinical pharmacology. 2004 Mar;60(1):3-Jan	Gene mutation of thiopurine S-methyltransferase in Uygur Chinese		187680	20003	2	2004	 TPMT*3C is a common mutant allele in Uygur Chinese, while TPMT*3A is a rare mutant allele in Uygur Chinese.	Cohort 160 Uygur Chinese subjects 										
137453		thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Ganiere-Monteil, C.  et al. 2004	15022030				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	French		CDC GDPinfo	7172	Hs.444319			European journal of clinical pharmacology. 2004 Apr;60(2):89-96	Phenotype and genotype for thiopurine methyltransferase activity in the French Caucasian population: impact of age.		187680	20004	2	2004	 No impact of child development on TPMT activity could be evidenced, suggesting that TPMT activity is already mature at birth. The difference between children and adults was low with reduced clinical impact expected. When individual TPMT activity was compared with genotype, there was an overlapping region where subjects (4.5%, 12 adults, 9 children) were either homozygous wild type or heterozygous, with a TPMT activity below the antimode value. This result highlighted the importance of measuring TPMT activity to detect all patients at risk of thiopurine toxicity.	Cohort 304/147/18 healthy adult blood donors (n=304), children (n=14) and neonates (cord bloods, n=18)) 										
137454		thiopurine S-methyltransferase phenotype	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Schaeffeler, E.  et al. 2004	15226673				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	German		CDC GDPinfo	7172	Hs.444319			Pharmacogenetics. 2004 Jul;14(7):407-17	Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants.		187680	20005	2	2004	Thus, the results of this study provide a solid basis to predict TPMT phenotype in a Northern European Caucasian population by molecular diagnostics.	Cohort 1,214 Northern European Caucasian healthy blood donors 										
137455		inflammatory bowel disease	IMMUNE	IMM		6	6p22.3	TPMT	18236523	18263353		Von Ahsen, N.  et al. 2004	15247157				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Clinical chemistry. 2004 Sep;50(9):1528-34	Rapid, long-range molecular haplotyping of thiopurine S-methyltransferase (TPMT) *3A, *3B, and *3C.		187680	20006	2	2004	 This method for rapid-cycle real-time, allele-specific amplification PCR-assisted long-range haplotyping has general application for the haplotyping of distant SNPs. The procedure is simpler and more rapid than previous methods. With respect to TPMT, haplotyping has the potential to discriminate the genotypes TPMT*1/*3A (intermediate metabolizer) and TPMT*3B/*3C (poor metabolizer).	Cohort 35 sample 										
137456		thiopurine	UNKNOWN	UNK		6	6p22.3	TPMT	18236523	18263353		Zhang, J. P.  et al. 2004	15255798				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Chinese		CDC GDPinfo	7172	Hs.444319			British journal of clinical pharmacology. 2004 Aug;58(2):163-8	Phenotyping and genotyping study of thiopurine S-methyltransferase in healthy Chinese children: acomparison of Han and Yao ethnic groups.		187680	20007	2	2004	 The frequency distribution of RBC TPMT activity was unimodal. The frequency of the known mutant TPMT alleles in Chinese Children is low and TPMT*3C appears to be the most prevalent among the tested mutant TPMT alleles in this population.	Cohort 21,387/126 healthy Han (n=21,387) and Yao (n=126) Chinese children 										
137457		kidney transplant complications	IMMUNE	IMM		6	6p22.3	TPMT	18236523	18263353		Formea, C. M.  et al. 2004	15476481				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			American journal of transplantation. 2004 Nov;4(11):1810-7	Thiopurine S-methyltransferase genotype predicts azathioprine-induced myelotoxicity in kidney transplant recipients.		187680	20008	2	2004	`Prospective application of pharmacogenetic principles may assist in optimization of immunosuppressive drug therapy and minimize drug toxicities.	Cohort 36 of 89 patients initially consenting who met inclusion criteria 	azathioprine									
137458	N	thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Arenas, M.  et al. 2004	15571267				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Nucleosides, nucleotides & nucleic acids. 2004 Oct;23(9-Aug):1403-5	Genetic determinants of the pre- and post-azathioprine therapy thiopurine methyltransferase activity phenotype.		187680	20009	2	2004	In conclusion, TPMT promoter VNTRs are unlikely to play a significant role in changes in TPMT activity in response to AZA therapy.	Cohort 59 patients treated with azathiprine 	azathioprine									
137459		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Neoplasm, Residual	6	6p22.3	TPMT	18236523	18263353		Stanulla, M.  et al. 2005	15784872				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			JAMA. 2005 Mar;293(12):1485-9	Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia.		187680	20010	2	2005	 TPMT genotype has a substantial impact on minimal residual disease after administration of mercaptopurine in the early course of childhood ALL, most likely through modulation of mercaptopurine dose intensity. Our findings support a role for minimal residual disease analyses in the assessment of genotype-phenotype associations in multiagent chemotherapeutic trials.	Cohort 814 consecutive childhood acute lymphoblastic leukemia patients from the ALL-BFM (Berlin-Frankfurt-Munster) 2000 study Germany Oct, 1999 - Sep, 2002 	mercaptopurine									
137460	Y	drug hypersensitivity	METABOLIC	MET	Nervous System Diseases	6	6p22.3	TPMT	18236523	18263353		Heckmann, J. M.  et al. 2005	15792824				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Journal of the neurological sciences. 2005 Apr;231(2-Jan):71-80	Thiopurine methyltransferase (TPMT) heterozygosity and enzyme activity as predictive tests for the development of azathioprine-related adverse events.		187680	20011	2	2005	The positive predictive value of genotyping was low, but the likelihood ratio for developing either haematological or hepatotoxicity by identifying TPMT heterozygosity, was 9.75. In our patient population this translates into an improvement from a pre-test probability of developing haematological or hepatotoxicity of 11%, to a post-test level of 50%. Heterozygous patients may then be targeted for a more "tailored" increase in dosing and regular laboratory monitoring.	Case:129 neurological patients;Control:465 ethnic appropriate controls	azathiprine									
137461		thiopurine methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Okada, Y.  et al. 2005	15802809				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Biological & pharmaceutical bulletin. 2005 Apr;28(4):677-81	Genotyping of thiopurine methyltransferase using pyrosequencing.		187680	20012	2	2005	We have demonstrated that typing of 10 SNPs can be performed within 30 min. Pyrosequencing has a wide application in the large-scale identification of individual TPMT genotypes.	Cohort 96 Japanese subjects 										
137462		thiopurine toxicity	UNKNOWN	UNK	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353		Dervieux, T.  et al. 2005	16166171				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Clinical chemistry. 2005 Nov;51(11):2074-84	Liquid chromatography-tandem mass spectrometry analysis of erythrocyte thiopurine nucleotides and effect of thiopurine methyltransferase gene variants on these metabolites in patients receiving azathioprine/6-mercaptopurine therapy.		187680	20013	2	2005	 The liquid chromatography-tandem mass spectrometry method can be applied to the routine monitoring of thiopurine therapy. The association between TPMT genotype and metabolite concentrations illustrates the utility of pharmacogenetics in the management of patients undergoing treatment with thiopurines.											
137463		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Hepatitis, Toxic|Pancreatitis|Bone Marrow Diseases	6	6p22.3	TPMT	18236523	18263353		Stocco, G.  et al. 2005	16202677				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Digestive and liver disease. 2005 Dec;37(12):940-5	TPMT genotype and the use of thiopurines in paediatric inflammatory bowel disease.		187680	20014	2	2005	 There was no significant association between adverse effects of thiopurines and TPMT heterozygous genotype, but TPMT genotyping could be useful in establishing the most appropriate dose of thiopurines to start treatment.		thiopuine therapy									
137465		azathioprine toxicity	PHARMACOGENOMIC	PHARM	Crohn Disease	6	6p22.3	TPMT	18236523	18263353		von Ahsen, N.  et al. 2005	16214825				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Clinical chemistry. 2005 Dec;51(12):2282-8	Association of Inosine Triphosphatase 94C>A and Thiopurine S-Methyltransferase Deficiency with Adverse Events and Study Drop-Outs under Azathioprine Therapy in a Prospective Crohn Disease Study.		187680	23815	2	2005	 Patients with ITPA 94C > A mutations or low TPMT activity constitute a pharmacogenetic high-risk group for drop-out from aza therapy. ITPA 94C>A appears to be a promising marker indicating predisposition to aza intolerance.											
137466		liver transplant	OTHER	OTH		6	6p22.3	TPMT	18236523	18263353		Breen, D. P.  et al. 2005	15973722				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Liver transplantation. 2005 Jul;11(7):826-33	Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation.		187680	25740	2	2005			azathioprine									
137467		cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity	CANCER	CAN		6	6p22.3	TPMT	18236523	18263353		Ishiguro, A.  et al. 2005	15691505				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Analytical biochemistry. 2005 Feb;337(2):256-61	High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.		187680	27316	2	2005	To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.	Cohort 139 Japanese volunteers 										
137468		breast cancer; thiopurine methyltransferase activity	CANCER	CAN		6	6p22.3	TPMT	18236523	18263353		Hamdy, S. I.  et al. 2003	12814450				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			British journal of clinical pharmacology. 2003 Jun;55(6):560-9	Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.		187680	27317	2	2003	 We found that Egyptians resemble other Caucasians with regard to allelic frequencies of the tested variants of NAT2, GST and MDR-1. By contrast, this Egyptian population more closely resemble Africans with respect to the TPMT*3C allele, and shows a distinctly different frequency with regard to the SULT1A1*2 variant. The predominance of the slow acetylator genotype in the present study (60.50%) could not confirm a previously reported higher frequency of the slow acetylator phenotype in Egyptians (92.00%), indicating the possibility of the presence of other mutations not detectable as T341C, G590A and G857A. The purpose of our future studies is to investigate for new polymorphisms, which could be relatively unique to the Egyptian population.	Cohort 200 unrelated Egyptian subjects Egypt 										
137469		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Chowbay, B.  et al. 2005	15931768				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		187680	27874	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
137470		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6p22.3	TPMT	18236523	18263353		Landi, S.  et al. 2005	16006997				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		187680	28586	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
137471		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	6	6p22.3	TPMT	18236523	18263353		Watanabe, I.  et al. 2003	12732844				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Japanese	Japan	CDC GDPinfo	7172	Hs.444319			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		187680	28649	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
137473		hepatitis C; hypothyroidism	INFECTION	INF		2	2p25	TPO	1396241	1525502		Das, B.  et al. 2004	15317218				Thyroid peroxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000547.3	Indian		CDC GDPinfo	7173	Hs.467554			Journal of forensic sciences. 2004 Jul;49(4):861-2	Molecular genetic analysis of TPO and CD4 loci among two endogamous ethnic groups of Maharashtra in Western India.		606765	23816	2	2004	no conclusion in abstract	Cohort 82/79 random, unrelated individuals from the Konkanastha Brahmins and Marathas ethnic groups of Maharashtra (n=82 for TPO and n=79 for CD4) Western India 										
137474	Y	reduced cerebrospinal fluid pterins	OTHER	OTH	Neuronal Ceroid-Lipofuscinosis	11	11p15	TPP1	6590572	6597161		Barisic N 2003	12950156				tripeptidyl peptidase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY268890			KGB	1200	Hs.523454			Croatian medical journal. 2003 Aug;44(4):489-93	R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.		607998	1266	1	2003												
137475		ischemic neuronal cell death	OTHER	OTH	Neuroblastoma|Cerebrovascular Disorders|Reperfusion Injury|	12	12q24.2-q24.3	HSP90B1	102848318	102865833		Bando Y 2003	12925009				heat shock protein 90kDa beta (Grp94), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369			KGB	7184	Hs.192374			The European journal of neuroscience. 2003 Aug;18(4):829-40	GRP94 (94 kDa glucose-regulated protein) suppresses ischemic neuronal cell death against ischemia/reperfusion injury.		191175	6278	1	2003	These results confirmed that GRP94 could suppress ischemic injury to neurons, suggesting that gene transfer of GRP94 into the brain may have therapeutic potential in the treatment of cerebrovascular disease.											
137476	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q23	TRHR	110168901	110200989		Garcia SI et al. 2001	11566956				Thyrotropin-releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003301.1			KGB	7201	Hs.3022			Hypertension. 2001 Sep;38(3 Pt 2):683-7	Thyrotropin-releasing hormone receptor (TRHR) gene is associated with essential hypertension.		188545	6279	1	2001	Our findings support the hypothesis that the TRHR gene participates in the etiopathogenesis of essential hypertension.											
137478	Y	anti-Ro 52-kd autoantibodies	IMMUNE	IMM	Sjogren's Syndrome|Lupus Erythematosus, Systemic	11	11p15.5	TRIM21	4362702	4371502		Nakken B et al. 2001	11263778				Tripartite motif-containing 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003141.3			KGB	6737	Hs.532357			Arthritis and rheumatism. 2001 Mar;44(3):638-46	Polymorphisms of the Ro52 gene associated with anti-Ro 52-kd autoantibodies in patients with primary Sjogren's syndrome.		109092	5635	1	2001	 We present the results of a complete screening for the Ro52 gene in patients with primary SS and the results of an association study. An SNP in intron 3 was found to be strongly associated with the presence of anti-Ro 52-kd autoantibodies in primary SS. This finding is interesting in light of the fact that an alternative messenger RNA is made by deleting exon 4, which encodes a putative leucine zipper domain, to generate a shorter version of the Ro 52-kd protein.	Control:72 healthy control subjects;Case:97 patients with primary Sjogren's syndrome										
137479	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	11	11p15.5	SSA1	4362702	4371502	n	Lester S 2003	14613296				tripartite motif-containing 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003141		South Australia	KGB	6737	Hs.532357			Arthritis and rheumatism. 2003 Nov;48(11):3293-4	Humoral immunity to Ro52 is not associated with the Ro52 9571 C/T polymorphism in Australian patients with primary Sjogren's syndrome.		109092	5636	1	2003												
137480		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	11	11p15.5	SSA1	4362702	4371502		Tsugu H 1994	7713506				tripartite motif-containing 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003141	Japanese	Japan	Y Wang	6737	Hs.532357			Genomics. 1994 Dec;24(3):541-8	The location of a disease-associated polymorphism and genomic structure of the human 52-kDa Ro/SSA locus (SSA1).		109092	5637	1	1994												
137481		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Lupus Erythematosus, Systemic	11	11p15.5	TRIM21	4362702	4371502		Nakken, B.  et al. 2001	11263778				Tripartite motif-containing 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003141.3			CDC GDPinfo	6737	Hs.532357			Arthritis and rheumatism. 2001 Mar;44(3):638-46	Polymorphisms of the Ro52 gene associated with anti-Ro 52-kd autoantibodies in patients with primary Sjogren's syndrome		109092	14529	2	2001	 We present the results of a complete screening for the Ro52 gene in patients with primary SS and the results of an association study. An SNP in intron 3 was found to be strongly associated with the presence of anti-Ro 52-kd autoantibodies in primary SS. This finding is interesting in light of the fact that an alternative messenger RNA is made by deleting exon 4, which encodes a putative leucine zipper domain, to generate a shorter version of the Ro 52-kd protein.	Control:72 healthy control subjects;Case:97 patients with primary Sjogren's syndrome										
137483		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	2	3p21.31	TRIP	238265667	238338645		Ishida, R.  et al. 2003	14499357			promoter	TRAF interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005879	Japanese	Japan	CDC GDPinfo	10293	Hs.517972			Bone. 2003 Aug;33(2):237-41	Association of a promoter haplotype (-1542G/-525C) in the tumor necrosis factor receptor associated factor-interacting protein gene with low bone mineral density in Japanese women.		605958	20023	2	2003	These results suggested that variation of I-TRAF might be an important determinant for postmenopausal osteoporosis.	Cohort 382 Japanese adult women 										
137484	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	21	21q22.3	TRPM2	44594473	44687392		Xu, C.  et al. 2005	16252251				Transient receptor potential cation channel, subfamily M, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003307.3			CDC GDPinfo	7226	Hs.369759			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):36-43	Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder.		603749	20025	2	2005												
137486		Tuberous sclerosis 1	DEVELOPMENTAL	DEV	Tuberous Sclerosis|Mental Retardation	9	9q34	TSC1	134756556	134809841		Kwiatkowska J et al. 1998	9924605				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			KGB	7248	Hs.370854			Annals of human genetics. 1998 Jul;62(Pt 4):277-85	Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation associated features and nonpenetrance.		605284	6281	1	1998												
137487	N	tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	9	9q34	TSC1	134756556	134809841		Feng, J. H.  et al. 2003	14756965				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			CDC GDPinfo	7248	Hs.370854			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Mar;41(3):223-6	[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]		605284	14536	2	2003	 Mutations found in this study were distributed on various exons and there was no clustering of the mutations, the widespread distribution of TSC1/TSC2 mutations hinders the development of a simple diagnostic test, and the identification of individual mutations does not provide prediction of prognosis.	Control:100 normal controls;Case:28 patients with tuberous sclerosis complex										
137488		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	9	9q34	TSC1	134756556	134809841		Dabora, S. L.  et al. 2001	11112665				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			CDC GDPinfo	7248	Hs.370854			American journal of human genetics. 2001 Jan;68(1):64-80	Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.		605284	20026	2	2001	Thus both germline and somatic mutations appear to be less common in TSC1 than in TSC2. The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.	Cohort 224 index patients with tuberous sclerosis 										
137489		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	9	9q34	TSC1	134756556	134809841		Sancak, O.  et al. 2005	15798777				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			CDC GDPinfo	7248	Hs.370854			European journal of human genetics. 2005 Jun;13(6):731-41	Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotypecorrelations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.		605284	20027	2	2005	In our cohort, both TSC1 mutations and mutations in familial TSC2 cases were associated with phenotypes less severe than de novo TSC2 mutations. Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2 mutation.	Cohort 490 patients diagnosed with or suspected of having tuberous sclerosis 										
137491	Y	gangliogliomas	CANCER	CAN	Ganglioglioma|Brain Neoplasms	16	16p13.3	TCS2	2038599	2078713		Platten M et al. 1997	9210877			splice variant	Tuberous sclerosis 2				KGB	7249	Hs.90303			Journal of neuropathology and experimental neurology. 1997 Jul;56(7):806-10	A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas.		191092	6283	1	1997	The rare allele of the TSC2 gene emerges as a candidate for a predisposing factor for the formation of sporadic gangliogliomas.											
137492		tuberous sclerosis phenotypes	OTHER	OTH	Tuberous Sclerosis	16	16p13.3	TSC2	2037990	2078714		Jobert S et al. 1997	9412784				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548		France	KGB	7249	Hs.90303			European journal of human genetics. 1997 Sep-Oct;5(5):280-7	Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.		191092	6284	1	1997												
137493		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis|Epilepsy|Pigmentation Disorders	16	16p13.3	TSC2	2037990	2078714		Rok, P.  et al. 2005	15874888				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			CDC GDPinfo	7249	Hs.90303			Medical science monitor. 2005 May;11(5):CR230-234	Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation		191092	20028	2	2005	 There are many influencing factors contributing to the diversity of the clinical picture and pathology of TSC. Obviously, a greater number of cases are needed for further analysis and more precise conclusions.	Cohort 170 tuberous sclerosis patients 										
137494	N	tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	16	16p13.3	TSC2	2037990	2078714		Feng, J. H.  et al. 2003	14756965				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			CDC GDPinfo	7249	Hs.90303			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Mar;41(3):223-6	[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism]		191092	23820	2	2003	 Mutations found in this study were distributed on various exons and there was no clustering of the mutations, the widespread distribution of TSC1/TSC2 mutations hinders the development of a simple diagnostic test, and the identification of individual mutations does not provide prediction of prognosis.	Control:100 normal controls;Case:28 patients with tuberous sclerosis complex										
137495		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	16	16p13.3	TSC2	2037990	2078714		Dabora, S. L.  et al. 2001	11112665				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			CDC GDPinfo	7249	Hs.90303			American journal of human genetics. 2001 Jan;68(1):64-80	Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.		191092	23821	2	2001	Thus both germline and somatic mutations appear to be less common in TSC1 than in TSC2. The reduced severity of disease in patients without defined mutations suggests that many of these patients are mosaic for a TSC2 mutation and/or have TSC because of mutations in an as-yet-unidentified locus with a relatively mild clinical phenotype.	Cohort 224 index patients with tuberous sclerosis 										
137496		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	16	16p13.3	TSC2	2037990	2078714		Sancak, O.  et al. 2005	15798777				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			CDC GDPinfo	7249	Hs.90303			European journal of human genetics. 2005 Jun;13(6):731-41	Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotypecorrelations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.		191092	23822	2	2005	In our cohort, both TSC1 mutations and mutations in familial TSC2 cases were associated with phenotypes less severe than de novo TSC2 mutations. Interestingly, consistent with other studies, the phenotypes of the patients in which no mutation was identified were, overall, less severe than those of patients with either a known TSC1 or TSC2 mutation.	Cohort 490 patients diagnosed with or suspected of having tuberous sclerosis 										
137497		hypothyroidism	METABOLIC	MET	Hypothyroidism	1	1p13	TSHB	115373937	115378464		Brumm, H.  et al. 2002	12364478				Thyroid stimulating hormone, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000549.2		Germany	CDC GDPinfo	7252	Hs.406687			The Journal of clinical endocrinology and metabolism. 2002 Oct;87(10):4811-6	Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.		188540	20031	2	2002	Our data suggest a monophyletic origin of the TSHbeta 313DeltaT mutation from a common ancestor and no significant population prevalence. Therefore, identification and genetic counseling of heterozygous carriers in affected families seems to be more advisable than population-wide neonatal T(4) screening programs for an early detection of this rare condition.	Cohort 500 unrelated individuals from the general population 										
137498	Y	hypothyroidism	METABOLIC	MET	Congenital Hypothyroidism|Hypothyroidism|Growth Disorders	1	1p13	TSHB	115373937	115378464		Karges, B.  et al. 2004	15297803				Thyroid stimulating hormone, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000549.2		Europe	CDC GDPinfo	7252	Hs.406687			Hormone research. 2004 ;62(3):149-55	Compound Heterozygous and Homozygous Mutations of the TSHbeta Gene as a Cause of Congenital Central Hypothyroidism in Europe		188540	20032	2	2004	 Clinical awareness is required to detect hypothyroidism due to TSHbeta mutations, which is not identified by TSH-based newborn screening. TSHbeta variants C105Vfs114X and Q49X are the most frequent cause of this severe disorder in Europe, now for the first time observed in compound heterozygous state.	Cohort children from four European countries diagnosed with congenital isolated central hypothyroidism 										
137499	Y	congenital athyreosis	OTHER	OTH	Congenital Hypothyroidism|Hypothyroidism|Choristoma	14	14q31	TSHR	80491621	80682399		Gagne N et al. 1998	9589691				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			KGB	7253	Hs.160411			The Journal of clinical endocrinology and metabolism. 1998 May;83(5):1771-5	Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?		603372	6285	1	1998	We conclude that  different genetic and nongenetic mechanisms for athyreosis and ectopic thyroid are likely, and that these two distinct entities are themselves heterogeneous. Our results further show that inactivating mutations in TSH-R may account for some cases of apparent congenital athyreosis and should be suspected, especially if plasma thyroglobulin levels are normal.											
137500	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	14	14q31	TSHR	80491621	80682399	n	Chou HT et al. 2002	12558129				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Chinese	Taiwan	KGB	7253	Hs.160411			Japanese heart journal. 2002 Nov;43(6):655-66	The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese.		603372	6286	1	2002	These findings suggest that the codon 727 and 52 polymorphisms of the TSHR gene are not the suitable genetic markers of MVPS in Taiwan Chinese.	Case:100 patients with mitral valve prolapse syndrome:Taiwan;Control:100 age and sex-matched normal contrrol subjects										
137501		autoimmune thyroid disease	IMMUNE	IMM	Thyroid Diseases|Hypothyroidism|Myxedema|Thyroiditis|Thyroiditis, Autoimmune|Autoimmune Diseases|Graves Disease	14	14q31	TSHR	80491621	80682399		Sale MM et al. 1997	9285944				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Japanese	Japan	KGB	7253	Hs.160411			Proceedings of the Association of American Physicians. 1997 Sep;109(5):453-61	Association of autoimmune thyroid disease with a microsatellite marker for the thyrotropin receptor gene and CTLA-4 in a Japanese population.		603372	6287	1	1997												
137502	N	Graves disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399	n	Watson PF et al. 1995	7883818				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			KGB	7253	Hs.160411			The Journal of clinical endocrinology and metabolism. 1995 Mar;80(3):1032-5	Lack of association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves' disease.		603372	6288	1	1995												
137504	N	autoimmune thyroid disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	14	14q31	TSHR	80491621	80682399	n	Sunthornthepvarakul T et al. 1999	10659563				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2		Thailand	KGB	7253	Hs.160411			Journal of the Medical Association of Thailand. 1999 Dec;82(12):1214-9	Lack of association between a polymorphism of human thyrotropin receptor gene and autoimmune thyroid disease.		603372	6290	1	1999												
137505	Y	congenital primary hypothyroidism	OTHER	OTH	Thyroid Hormone Resistance Syndrome|Hypothyroidism	14	14q31	TSHR	80491621	80682399		Takeshita A et al. 1994	7833660				thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			KGB	7253	Hs.160411	TSH unresponsiveness		Thyroid. 1994 ;4(3):255-9	Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.		603372	6291	1	1994												
137507	N	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	14	14q31	TSHR	80491621	80682399		Chou, H. T.  et al. 2002	12558129	codon 727 and 52			Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Chinese	Taiwan	CDC GDPinfo	7253	Hs.160411			Japanese heart journal. 2002 Nov;43(6):655-66	The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese		603372	14537	2	2002	These findings suggest that the codon 727 and 52 polymorphisms of the TSHR gene are not the suitable genetic markers of MVPS in Taiwan Chinese.	Case:100 patients with mitral valve prolapse syndrome:Taiwan;Control:100 age and sex-matched normal contrrol subjects										
137508	N	Graves' disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399		Ban, Y.  et al. 2002	12593721				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDPinfo	7253	Hs.160411			Thyroid. 2002 Dec;12(12):1079-83	A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease.		603372	14538	2	2002	Therefore, we concluded that the TSHR gene is not a major gene for GD in our population.	Case Caucasian Graves' disease patients;Control:controls										
137509		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	14	14q31	TSHR	80491621	80682399		Ho, S. C.  et al. 2003	12930595				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2		Singapore	CDC GDPinfo	7253	Hs.160411			Thyroid. 2003 Jun;13(6):523-8	Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins		603372	14539	2	2003	Together with recent identification of disease susceptibility markers in the region of the TSHr gene, these results are supportive of genetic factors existing in this region that may be in linkage disequilibrium with the inheritance of various TSHr polymorphisms.	Case:164 Graves' disease patients;Control:240 individuals with no thyroid illnesses										
137510	N	fetal iodine deficiency disorer	METABOLIC	MET	Congenital Hypothyroidism	14	14q31	TSHR	80491621	80682399		Guo, T. W.  et al. 2005	15911145				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Chinese	China	CDC GDPinfo	7253	Hs.160411			Neuroscience letters. 2005 Jul;382(2-Jan):179-84	Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China.		603372	14540	2	2005	In conclusion, our association results suggest that TSHR gene is not a susceptibility gene for FIDD in the iodine-deficient areas of China.	Control:controls;Case Chinese Han fetal iodine deficiency disorder:patients Qin-Ba mountain region, China										
137511		thyrotoxicosis, juvenile	OTHER	OTH	Thyrotoxicosis	14	14q31	TSHR	80491621	80682399		Lavard, L.  et al. 2004	15384882				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2		Denmark	CDC GDPinfo	7253	Hs.160411			Acta Paediatr. 2004 Sep;93(9):1192-4	Prevalence of germline mutations in the TSH receptor gene as a cause of juvenile thyrotoxicosis.		603372	20034	2	2004	 In Denmark the prevalence of germline mutations in the TSH receptor gene is one in 121 patients with JT (0.8%; 95% CI: 0.02-4.6%) and one in 17 patients with presumed non-autoimmune JT (6%; 95% CI: 5.88% (0.15-28.69)).	Cohort 123 juvenile thyrotoxicosis patients re-examined 10 years (range 4 to 21 y) after diagnoses Denmark 										
137512	Y	Graves' disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399		Hiratani, H.  et al. 2005	15741259			intron	Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDPinfo	7253	Hs.160411			The Journal of clinical endocrinology and metabolism. 2005 May;90(5):2898-903	Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease.		603372	20035	2	2005	These findings suggest that alleles of intron 7 of the TSHR gene contribute to GD susceptibility.	Control:controls;Case Japanese patients with autoimmune thyroid disease										
137513	Y	congenital and subclinical hypothyroidism	OTHER	OTH	Congenital Hypothyroidism|Hypothyroidism	14	14q31	TSHR	80491621	80682399		Camilot, M.  et al. 2005	16060907				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Caucasian		CDC GDPinfo	7253	Hs.160411			Clinical endocrinology. 2005 Aug;63(2):146-51	Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.		603372	20036	2	2005	 A single grossly mutated allele (such as C41S or 555-561del) invariably leads to a condition of subclinical hypothyroidism, whereas in case of heterozygous carriers of mutations partially affecting the receptor function (such as P162A or L252P), a remarkable variable expressivity was detected among individuals belonging to different generations.	Mutational screening										
137514		Graves' disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399		Dechairo, B. M.  et al. 2005	16106256				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2		Great Britain	CDC GDPinfo	7253	Hs.160411			European journal of human genetics. 2005 Nov;13(11):1223-30	Association of the TSHR gene with Graves' disease:the first disease specific locus.		603372	20037	2	2005												
137516		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	14	14q31	TSHR	80491621	80682399		Matakidou, A.  et al. 2003	14633662				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDPinfo	7253	Hs.160411			Carcinogenesis. 2004 Mar;25(3):369-73	Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene.		603372	23824	2	2003	Although the risk of NMTC associated with the TgQ2511R - R allele is modest, its high prevalence in the general population suggests it may make a significant contribution to the incidence of NMTC.	Case:102 Canadian thyroid cancer cases:Canada;Control:102:controls:Canada;Case:202 British thyroid cancer cases:UK;Control:298:controls:UK										
137517		hormone disturbance	METABOLIC	MET		14	14q31	TSHR	80491621	80682399		Peeters, R. P.  et al. 2003	12788902				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDPinfo	7253	Hs.160411			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2880-8	Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects.		603372	23825	2	2003	We have analyzed eight SNPs in five thyroid hormone pathway genes and found significant associations of three SNPs in two genes (D1, TSHR) with plasma TSH or iodothyronine levels in a normal population.	Cohort 156 healthy blood donors 										
137518	Y	schizophrenia; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	1	1q42.1	DISC1	229829184	230243641	0.00026 	Thomson, P. A.  et al. 2005	15838535	haplotype			Disrupted In Schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018662	Scottish/UK	Scotland	CDC GDPinfo	27185	Hs.13318			Molecular psychiatry. 2005 Jul;10(7):657-68, 616	Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population.		605210	20038	2	2005	This result provides further supporting evidence for DISC1 as a susceptibility factor for both bipolar disorder and schizophrenia, consistent with the diagnoses in the original Scottish translocation family.	Case schizophrenic and bipolar disorder patients:Scotland;Control:controls										
137519		schizophrenia	PSYCH	PSY	Memory Disorders|Atrophy|Genetic Predisposition to Disease|Diseases in Twins|Schizophrenia	1	1q42.1	TSNAX	229731021	229768892		Cannon, T. D.  et al. 2005	16275808				Translin-associated factor X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005999.2		Finland	CDC GDPinfo	7257	Hs.96247			Archives of general psychiatry. 2005 Nov;62(11):1205-13	Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory.		602964	23826	2	2005	 Specific alleles of the DISC1 and TRAX genes on 1q42 appear to contribute to genetic risk for schizophrenia through disruptive effects on the structure and function of the prefrontal cortex, medial temporal lobe, and other brain regions. These effects are consistent with their production of proteins that play roles in neuritic outgrowth, neuronal migration, synaptogenesis, and glutamatergic neurotransmission.											
137520		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	9	9q34.13	TTF1	134240757	134272042		Garcia-Barcelo, M.  et al. 2004	15548547				Transcription termination factor, RNA polymerase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007344.2	Chinese		CDC GDPinfo	7270	Hs.54780			Human molecular genetics. 2005 Jan;14(2):191-204	TTF-1 and RET promoter SNPs: regulation of RETtranscription in Hirschsprung's disease.		600777	23827	2	2004	By using a weighted logistic regression approach, we determined that of all SNPs tested in our study, the promoter SNPs are the most correlated to the disease. Functional analysis of the RET promoter SNPs in the context of additional 5' regulatory regions demonstrated that the HSCR-associated alleles decrease RET transcription. These SNPs overlap a TTF-1 binding site and TTF-1-activated RET transcription is also decreased by the HSCR-associated SNPs. Moreover, we identified a HSCR patient with a Gly322Ser TTF-1 mutation that compromises activation of transcription from HSCR-associated RET promoter haplotypes. Interestingly, we show that the pattern of RET and TTF-1 expression is coincident in developing human gut. We also present a detailed profile of the RET gene in our population that provides an insight for the higher incidence of the disease in Chinese.	Cohort 172 Chinese sporadic Hirschsprung's disease patients 										
137521	Y	hypothyroidism; cleft palate, isolated; thyroid agenesis	DEVELOPMENTAL	DEV	Congenital Hypothyroidism|Cleft Palate|Hypothyroidism	1	1p22	TTF2	117404471	117447014		Castanet, M.  et al. 2002	12165566				Transcription termination factor, RNA polymerase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003594.3			CDC GDPinfo	8458	Hs.486818			Human molecular genetics. 2002 Aug;11(17):2051-9	A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.		604718	20040	2	2002	Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH.	Control normal controls;Case:31 unrelated cases of athyreosis										
137522		cleft palate; hypothyroidism	DEVELOPMENTAL	DEV	Congenital Hypothyroidism|Cleft Palate|Hypothyroidism	1	1p22	TTF2	117404471	117447014		Tonacchera, M.  et al. 2004	15320969				Transcription termination factor, RNA polymerase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003594.3			CDC GDPinfo	8458	Hs.486818			Thyroid. 2004 Aug;14(8):584-8	Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate.		604718	20041	2	2004	In conclusion, our results show that no genetic alteration was present in the TTF-2 gene of these patients, suggesting that defects in the TTF-2 gene are a rare event.	Case:2/45/19/4 children with congenital hypothyroidism (CH) and cleft palate (n=2), children with thyroid dysgenesis (n=45), children with isolated cleft palate or cleft lip (n=19) and patients with thyroid hemiagenesis (n=4);Control:53 normal healthy controls										
137523	Y	increased thyroxine binding	OTHER	OTH	Thyrotoxicosis|Thyroiditis, Autoimmune	18	18q12.1	TTR	27425837	27432781		Scrimshaw BJ et al. 1992	1356051				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Thyroid. 1992 ;2(1):21-6	A novel variant of transthyretin (prealbumin) Thr119 to Met associated with increased thyroxine binding.		176300	6293	1	1992												
137524	Y	Familial amyloidotic polyneuropathy type 1	OTHER	OTH	Amyloid Neuropathies	18	18q12.1	TTR	27425837	27432781		Palacios SA et al. 1999	10611951				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1		Brazil	KGB	7276	Hs.427202			Amyloid. 1999 Dec;6(4):289-91	Familial amyloidotic polyneuropathy type 1 in Brazil is associated with the transthyretin Val30Met variant.		176300	6294	1	1999	 TTR Val30Met mutation was the sole TTR variant found in Brazilian FAP1 patients in this cohort, and it was present even in those subjects without a clear history of Portuguese ancestry.											
137526	Y	familial amyloidotic polyneuropathy.	NEUROLOGICAL	NEUR	Nervous System Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Murakami T et al. 1992	1520326				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Biochemical and biophysical research communications. 1992 Aug;187(1):397-403	A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.		176300	6296	1	1992												
137527	Y	familial amyloid polyneuropathy.	NEUROLOGICAL	NEUR	Amyloid Neuropathies|Cardiomyopathies	18	18q12.1	TTR	27425837	27432781		Uemichi T et al. 1995	7643356				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Journal of medical genetics. 1995 Apr;32(4):279-81	A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy.		176300	6297	1	1995												
137528	Y	amyloid polyneuropathy	OTHER	OTH	Amyloid Neuropathies, Familial|Disease Progression	18	18q12.1	TTR	27425837	27432781		Yazaki M et al. 2002	11870693				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Muscle & nerve. 2002 Feb;25(2):244-50	Rapidly progressive amyloid polyneuropathy associated with a novel variant transthyretin serine 25.		176300	6298	1	2002												
137530	Y	familial amyloidotic polyneuropathy.	NEUROLOGICAL	NEUR	Peripheral Nervous System Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Jones LA et al. 1991	1850191				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			American journal of human genetics. 1991 May;48(5):979-82	Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.		176300	6300	1	1991												
137531	Y	Massive leptomeningeal amyloidosis	OTHER	OTH	Amyloidosis	18	18q12.1	TTR	27425837	27432781		Herrick MK et al. 1996	8857732				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Neurology. 1996 Oct;47(4):988-92	Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.		176300	6301	1	1996												
137532	Y	cardiovascular	CARDIOVASCULAR	CARD	Cardiomyopathies|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Gillmore JD et al. 1999	10455100				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Heart (British Cardiac Society). 1999 Sep;82(3):e2	Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.		176300	6302	1	1999												
137534	Y	Vitreous amyloidosis	OTHER	OTH	Eye Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Sandgren O et al. 1990	1978774				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Archives of ophthalmology. 1990 Nov;108(11):1584-6	Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene.		176300	6304	1	1990												
137535	Y	amyloidotic vitreous opacities Asparagine for isoleucine at position 84	VISION	VIS	Eye Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Skinner M et al. 1992	1350083				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Ophthalmology. 1992 Apr;99(4):503-8	A new transthyretin mutation associated with amyloidotic vitreous opacities. Asparagine for isoleucine at position 84.		176300	6305	1	1992												
137536	Y	amyloid cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathies|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Saraiva MJ et al. 1992	1570831				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			American journal of human genetics. 1992 May;50(5):1027-30	A new transthyretin mutation associated with amyloid cardiomyopathy.		176300	6306	1	1992												
137537	Y	familial amyloid polyneuropathy.	NEUROLOGICAL	NEUR	Peripheral Nervous System Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Uemichi T et al. 1992	1362222				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Journal of medical genetics. 1992 Dec;29(12):888-91	A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.		176300	6307	1	1992												
137538		cleft palate; hypothyroidism	DEVELOPMENTAL	DEV		18	18q12.1	TTR	27425837	27432781		Yamashita, T.  et al. 2005	16011990	Ile122			Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1	African American		CDC GDPinfo	7276	Hs.427202			Amyloid. 2005 Jun;12(2):127-30	A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.		176300	14541	2	2005												
137539		mixed polyneuropathy	OTHER	OTH	Amyloid Neuropathies, Familial	18	18q12.1	TTR	27425837	27432781		Salvi, F.  et al. 2003	14640031	Ile68Leu			Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1	Italian		CDC GDPinfo	7276	Hs.427202			Amyloid. 2003 Sep;10(3):185-9.	Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.		176300	20042	2	2004	Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation.											
137540	Y	familial amyloid polyneuropathy	OTHER	OTH	Amyloid Neuropathies|Genetic Predisposition to Disease	18	18q12.1	TTR	27425837	27432781		Soares, M. L.  et al. 2005	15649951				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1	Portuguese	Portugal	CDC GDPinfo	7276	Hs.427202			Human molecular genetics. 2005 Feb;14(4):543-53	Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy:complexity in a single gene disease		176300	23828	2	2005	Thus, while the TTR V30M mutation is required for disease in Portuguese patients, different genetic factors may govern the age of onset as well as the occurrence of anticipation.	Case Familial amyloid polyneuropathy patients:Portugal;Control:controls										
137541		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.1	TUBA8	16940773	17009275			16380905				Tubulin, alpha 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018943.1			CDC GDPinfo	51807	Hs.137400			American journal of human genetics. 2005 Dec;77(6):918-36	Bipolar I Disorder and Schizophrenia: A440-Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish Case-Parent Trios		605742	28273	2	2005												
137543		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Thrombocytopenia|Genetic Predisposition to Disease	20	20q13.32	TUBB1	57027703	57035104		Freson, K.  et al. 2005	15956286	Q43P			Tubulin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030773.2			CDC GDPinfo	81027	Hs.592143			Blood. 2005 Oct;106(7):2356-62	The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.			14542	2	2005												
137545		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	19	19p13.2	TYK2	10322208	10352211		Sigurdsson, S.  et al. 2005	15657875				Tyrosine kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003331		Finland|Iceland|Sweden	CDC GDPinfo	7297	Hs.75516			American journal of human genetics. 2005 Mar;76(3):528-37	Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus		176941	23829	2	2005	Thus, our results support a disease mechanism in SLE that involves key components of the type I IFN system.	Control:438/798 unrelated control individuals (n=438) and unaffected family members (n=798);Case:679 Swedish, Finnish, and Icelandic patients with systemic lupus erythematosus										
137546	Y	type I-A (tyrosinase-negative) oculocutaneous albinism	OTHER	OTH	Albinism, Oculocutaneous	11	11q14-q21	TYR	88550687	88668575		Oetting WS et al. 1993	8434585				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3	Puerto Rican	Puerto Rico	KGB	7299	Hs.503555			American journal of human genetics. 1993 Jan;52(1):17-23	A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.		606933	6310	1	1993												
137547	Y	ocular albinism	VISION	VIS	Albinism, Ocular	11	11q14-q21	TYR	88550687	88668575		Fukai K et al. 1995	7704033				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			KGB	7299	Hs.503555			Nature genetics. 1995 Jan;9(1):92-5	Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.		606933	6311	1	1995												
137548	Y	full-length deletion of the tyrosinase gene	OTHER	OTH	Albinism, Oculocutaneous	11	11q14-q21	TYR	88550687	88668575		Schnur RE et al. 1996	8618053				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			KGB	7299	Hs.503555			The Journal of investigative dermatology. 1996 May;106(5):1137-40	Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.		606933	6312	1	1996												
137549	Y	temperature-sensitive enzymatic activity	NORMALVARIATION	NV		11	11q14-q21	TYR	88550687	88668575		Tripathi RK et al. 1991	1820207				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			KGB	7299	Hs.503555			Gene expression. 1991 May;1(2):103-10	A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.		606933	6313	1	1991												
137550	Y	type IB (yellow) oculocutaneous albinism	OTHER	OTH	Albinism, Oculocutaneous	11	11q14-q21	TYR	88550687	88668575		Giebel LB et al. 1991	1903591				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			KGB	7299	Hs.503555			American journal of human genetics. 1991 Jun;48(6):1159-67	Tyrosinase gene mutations associated with type IB (yellow) oculocutaneous albinism.		606933	6314	1	1991												
137551		prostate cancer	CANCER	CAN	Adenocarcinoma|Bone Neoplasms|Prostatic Neoplasms	11	11q14-q21	TYR	88550687	88668575		Luscombe, C. J.  et al. 2001	11532853				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			CDC GDPinfo	7299	Hs.503555			Carcinogenesis. 2001 Sep;22(9):1343-7	Outcome in prostate cancer associations with skin type and polymorphism in pigmentation-related genes.		606933	23844	2	2001	These data indicate for the first time that pigmentation response to UV is associated with outcome in prostate cancer.	Cohort 210 prostate cancer patients 	radiation, ultraviolet									
137552		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	11	11q14-q21	TYR	88550687	88668575		Luscombe, C. J.  et al. 2001	11720436				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			CDC GDPinfo	7299	Hs.503555			British journal of cancer. 2001 Nov;85(10):1504-9	Prostate cancer risk: associations with ultravioletradiation, tyrosinase and melanocortin-1 receptor genotypes.		606933	23845	2	2001	Our data show for the first time, that allelism in genes linked with skin pigment synthesis is associated with prostate cancer risk possibly because it mediates the protective effects of UV. Importantly, susceptibility is associated with an interaction between host predisposition and exposure.	Control:155 controls not otherwise specified in abstract;Case:210 prostate cancer cases	radiation, ultraviolet									
137553		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	11	11q14-q21	TYR	88550687	88668575		Partridge, J. M.  et al. 2004	15210908				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			CDC GDPinfo	7299	Hs.503555			Neurology. 2004 Jun;62(12):2323-5	Susceptibility and outcome in MS: associations withpolymorphisms in pigmentation-related genes		606933	23846	2	2004	These preliminary data suggest a role for these genes in MS pathogenesis.	Case:419 multiple sclerosis patients;Control:422:controls										
137554	N	glaucoma	VISION	VIS	Glaucoma, Open-Angle|Exfoliation Syndrome	9	9p23	TYRP1	12683448	12700257	n	Lynch S et al. 2002	12011806				Tyrosinase-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000550.1			KGB	7306	Hs.270279			Molecular vision [electronic resource]. 2002 Apr;8:127-9	DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma.		115501	6315	1	2002	 Despite the phenotypic similarity between the glaucoma in the DBA/2J mouse and human pigmentary glaucoma, the results of this study suggest that DNA sequence variants in the human TYRP1 gene are not associated with inherited pigmentary glaucoma in humans.											
137556	Y	metabolic syndrome	METABOLIC	MET	Diabetes Mellitus|Metabolic Syndrome X|Hyperlipidemias|Obesity|Genetic Predisposition to Disease	19	19p13.3	UBL5	9799567	9801797		Jowett, J. B.  et al. 2004	15331561				Ubiquitin-like 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024292.2		Mauritius	CDC GDPinfo	59286	Hs.534477			Diabetes. 2004 Sep;53(9):2467-72	Genetic variation in BEACON influences quantitative variation in metabolic syndrome-related phenotypes.		606849	20051	2	2004	Multivariate analysis of these correlated phenotypes also yielded a highly significant association (P = 0.0004), suggesting that BEACON may influence phenotypic variation in metabolic syndrome-related traits.	Cohort 40 unrelated individuals 										
137557	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9q22	UBQLN1	85464698	85512773		Brouwers, N.  et al. 2005	16214290	UBQ-8i			Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3			CDC GDPinfo	29979	Hs.9589			Neuroscience letters. 2006 Jan;392(2-Jan):72-4	The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years.		605046	14590	2	2005												
137558	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9q22	UBQLN1	85464698	85512773		Smemo, S.  et al. 2005	16278862				Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3			CDC GDPinfo	29979	Hs.9589			Annals of neurology. 2006 Jan;59(1):21-6	Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.		605046	14591	2	2005												
137559	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9q22	UBQLN1	85464698	85512773		Kamboh, M. I.  et al. 2005	16302009				Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3			CDC GDPinfo	29979	Hs.9589			Molecular psychiatry. 2005	Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures.		605046	20052	2	2005												
137561	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p14	UCHL1	40953685	40965203		Naze P et al. 2002	12123845				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			KGB	7345	Hs.518731			Neuroscience letters. 2002 Aug;328(1):4-Jan	Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.		191342	6317	1	2002	We conclude that  the UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD.	Control:136:controls;Case:138 Huntington's disease patients										
137562	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203		Satoh J et al. 2001	11535241				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3	Japanese	Japan	KGB	7345	Hs.518731			Journal of the neurological sciences. 2001 Aug;189(2-Jan):113-7	A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population.		191342	6318	1	2001	These results indicate that the presence of 18Tyr allele and 18Tyr/Tyr homozygosity in the UCH-L1 gene is associated with a reduced risk for development of sporadic PD in a Japanese population, supporting the previous observations on sporadic PD in Caucasian populations.	Control:155 age-matched non-Parkinson's disease controls;Case:74 patients with sporadic Parkinson's disease:Japan										
137563	N	Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203	n	Savettieri G et al. 2001	11502942				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			KGB	7345	Hs.518731			Neurology. 2001 Aug;57(3):560-1	Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD.		191342	6319	1	2001	The presence of the S18Y polymorphism of the UCH-L1 gene is not associated with a lower risk of developing PD even whn the age at onset of PD is considered.	Control:165 healthy subjects enrolled during a previous study on aging:Italy;Case:169 patients with sporadic Parkinson's Disease:Italy										
137565	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203	n	Levecque C et al. 2001	11716150				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		France	KGB	7345	Hs.518731			J Neural Transm. 2001 ;108(9-Aug):979-84	No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.		191342	6321	1	2001												
137566	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Mellick, G. D.  et al. 2000	11027850				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Neuroscience letters. 2000 Oct;293(2):127-30	The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.		191342	14592	2	2000	This study suggests that the S18Y polymorphism in UCH-L1 does not influence the risk for developing PD.	Case:142 Parkinson's disease patients:Austraila;Control:142 closely matched control subjects										
137567	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Savettieri, G.  et al. 2001	11502942				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Neurology. 2001 Aug;57(3):560-1	Lack of association between ubiquitin carboxy-terminal hydrolase L1 gene polymorphism and PD.		191342	14593	2	2001	The presence of the S18Y polymorphism of the UCH-L1 gene is not associated with a lower risk of developing PD even whn the age at onset of PD is considered.	Control:165 healthy subjects enrolled during a previous study on aging:Italy;Case:169 patients with sporadic Parkinson's Disease:Italy										
137568	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Levecque, C.  et al. 2001	11716150	S18Y			Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		France	CDC GDPinfo	7345	Hs.518731			J Neural Transm. 2001 ;108(9-Aug):979-84	No genetic association of the Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease		191342	14594	2	2001	No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.	Case:114 familial PD patients:France;Control:93 controls not otherwise specified										
137569		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Elbaz, A.  et al. 2003	12539205	S18Y			Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Movement disorders. 2003 Feb;18(2):130-7	S18Y polymorphism in the UCH-L1 gene and Parkinson's disease: Evidence for an age-dependentrelationship		191342	14596	2	2003	In this community-based case-control study, carriers of the Y allele were at decreased risk of developing PD at a young age, independently of pesticides and smoking.	Case Parkinson's disease patients:France;Control	pesticides smoking (tobacco)									
137570		Huntingtons disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p14	UCHL1	40953685	40965203			16369839	S18Y			Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Neurogenetics. 2005	The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease		191342	14597	2	2005												
137571	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203		Satoh, J.  et al. 2001	11535241				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3	Japanese	Japan	CDC GDPinfo	7345	Hs.518731			Journal of the neurological sciences. 2001 Aug;189(2-Jan):113-7	A polymorphic variation of serine to tyrosine at codon 18 in the ubiquitin C-terminal hydrolase-L1 gene is associated with a reduced risk of sporadic Parkinson's disease in a Japanese population.		191342	20053	2	2001	These results indicate that the presence of 18Tyr allele and 18Tyr/Tyr homozygosity in the UCH-L1 gene is associated with a reduced risk for development of sporadic PD in a Japanese population, supporting the previous observations on sporadic PD in Caucasian populations.	Control:155 age-matched non-Parkinson's disease controls;Case:74 patients with sporadic Parkinson's disease:Japan										
137572	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	4	4p14	UCHL1	40953685	40965203		Naze, P.  et al. 2002	12123845				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Neuroscience letters. 2002 Aug;328(1):4-Jan	Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.		191342	20054	2	2002	We conclude that  the UCH-L1 gene may be a genetic factor that influences the variability in age-at-onset of HD.	Control:136:controls;Case:138 Huntington's disease patients										
137573	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Shi, Q.  et al. 2003	12775255				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Chinese medical journal. 2003 Feb;116(2):312-3	An Ile93Met substitution in the UCH-L1 gene is not a disease-causing mutation for idiopathic Parkinson's disease		191342	20055	2	2003	 Our study suggested that Ile93Met of UCH-L1 gene did not influence risk of IPD.	Case Paarkinson's disease patients;Control:controls										
137574	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203		Facheris, M.  et al. 2005	15882803				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		United States	CDC GDPinfo	7345	Hs.518731			Neuroscience letters. 2005 Jun;381(2-Jan):131-4	UCHL1 is associated with Parkinson's disease: acase-unaffected sibling and case-unrelated control study.		191342	20057	2	2005	Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR=0.18, 95% CI=0.05-0.64, p=0.002, recessive model) and in several strata.	Control:427/70 siblings of Parkinson's disease cases (n=427) and unrelated controls (n=70);Case:497 Parkinson's disease cases (427 case-unaffected sibling pairs and 70 case-unrelated control pairs)										
137575		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	4	4p14	UCHL1	40953685	40965203		Healy, D. G.  et al. 2005	16007636				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Movement disorders. 2005 Oct;20(10):1338-43	UCHL-1 gene in multiple system atrophy: a haplotypetagging approach.		191342	20058	2	2005												
137576	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Wang, J.  et al. 2002	12210873				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		China	CDC GDPinfo	7345	Hs.518731			Movement disorders. 2002 Jul;17(4):767-71	ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset.		191342	23847	2	2002	These data suggest that ACT polymorphism does not influence the risk for developing PD. UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD.	Case:160 Chinese Parkinson's disease cases;Control:160 carefully matched control subjects										
137578	N	Obesity	METABOLIC	MET	Obesity	2	2p23-p21	UCN	27383768	27384634	n	Delplanque J 2002	11836334				Urocortin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003353.2	French Caucasin	France	TJB	7349	Hs.534363			The Journal of clinical endocrinology and metabolism. 2002 Feb;87(2):867-9	Mutation screening of the urocortin gene:identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.		600945	6322	1	2002	Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity.	Control:381 controls not otherwise specified in abstract;Case:722 unrelated obese subjects										
137579		deafness	OTHER	OTH	Deafness|Hearing Loss, Sensorineural	2	2p23-p21	UCN	27383768	27384634		Li X 2004	14960712				Urocortin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003353.2		Africa	KGB	7349	Hs.534363			Nucleic acids research. 2004 ;32(3):867-77	Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.		600945	6323	1	2004												
137580	N	obesity	METABOLIC	MET	Obesity	2	2p23-p21	UCN	27383768	27384634		Delplanque, J.  et al. 2002	11836334				Urocortin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003353.2	French	France	CDC GDPinfo	7349	Hs.534363			The Journal of clinical endocrinology and metabolism. 2002 Feb;87(2):867-9	Mutation screening of the urocortin gene:identification of new single nucleotide polymorphisms and association studies with obesity in French Caucasians.		600945	20059	2	2002	Thus, our analyses of the genetic variations of the UCN gene suggest that, at least in French Caucasians, they do not represent a major cause of obesity.	Control:381 controls not otherwise specified in abstract;Case:722 unrelated obese subjects										
137581	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	4	4q28-q31	UCP1	141700499	141709457		Zietz B et al. 2001	11341297	GG-genotype in the promotor region		promoter	Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			KGB	7350	Hs.249211	lower level of dehydroepiandrosterone		Experimental and clinical endocrinology & diabetes. 2001 ;109(2):102-6	GG-genotype in the promotor region of uncoupling-protein-1 gene is associated with lower level of dehydroepiandrosterone in type 2 diabetes.		113730	6324	1	2001	The Study suggests a role for UCP-1 polymorphism in the pathogenesis of obesity and arteriosclerosis. This hypothesis, however, needs further investigation.											
137583		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28-q31	UCP1	141700499	141709457		Mori H 2001	11317671				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Japan	Y Wang	7350	Hs.249211			Diabetologia. 2001 Mar;44(3):373-6	A polymorphism in the 5' untranslated region and a Met229-->Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to type II diabetes mellitus.		113730	6326	1	2001	Both the A-->C polymorphism and the Met229-->Leu polymorphism of UCP1 are in linkage disequilibrium and could be one of the diabetes associated single nucleotide polymorphisms (SNPs).	Case:25 type II diabetic subjects;Control:25 healthy controls subjects										
137584	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28-q31	UCP1	141700499	141709457		Mori, H.  et al. 2001	11317671	Met229-->Leu variant in exon 5		promoter	Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Japan	CDC GDPinfo	7350	Hs.249211			Diabetologia. 2001 Mar;44(3):373-6	A polymorphism in the 5' untranslated region and a Met229-->Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to type II diabetes mellitus.		113730	14600	2	2001	Both the A-->C polymorphism and the Met229-->Leu polymorphism of UCP1 are in linkage disequilibrium and could be one of the diabetes associated single nucleotide polymorphisms (SNPs).	Case:25 type II diabetic subjects;Control:25 healthy controls subjects										
137585	Y	body mass	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	4	4q28-q31	UCP1	141700499	141709457		Herrmann, S. M.  et al. 2003	12756473				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			Journal of molecular medicine (Berlin, Germany). 2003 May;81(5):327-32	Uncoupling protein 1 and 3 polymorphisms are associated with waist-to-hip ratio.		113730	14604	2	2003	In conclusion, central obesity in whites as reflected by an increased waist-to-hip ratio is associated with the UCP-1 Ala64Thr and UCP-3 C-55T polymorphisms. To what extent these genotypes contribute to the overall cardiovascular risk remains to be elucidated.	Cohort 162 Caucasians 										
137586	Y	obesity	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Obesity	4	4q28-q31	UCP1	141700499	141709457		Forga, L.  et al. 2003	12951617	03826 A --> G			Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			Anales del sistema sanitario de Navarra. 2003 May-Aug;26(2):231-6	[Influence of the polymorphism 03826 A --> G in the UCP1 gene on the components of metabolic syndrome]		113730	14605	2	2003	 The fundamental factor that influences the components of the metabolic syndrome is obesity. However, the polymorphism -3826 A/G of the UCP1 gene is associated with a greater degree of obesity and very high figures of AT.	Control:154 normal weight individuals;Case:159 obese individuals										
137588		body fat	METABOLIC	MET	Body Weight	4	4q28-q31	UCP1	141700499	141709457		Soo Kim, K.  et al. 2005	15955458				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Korea	CDC GDPinfo	7350	Hs.249211			Biochimica et biophysica acta. 2005 Jun;1741(2-Jan):149-55	The finding of new genetic polymorphism of UCP-1 A-1766G and its effects on body fat accumulation.		113730	14608	2	2005												
137589		obesity	METABOLIC	MET	Obesity|Body Weight	4	4q28-q31	UCP1	141700499	141709457		Shin, H. D.  et al. 2005	16084837				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Korean	Korea	CDC GDPinfo	7350	Hs.249211			Biochemical and biophysical research communications. 2005 Sep;335(2):624-30	The effects of UCP-1 polymorphisms on obesity phenotypes among Korean female subjects.		113730	14609	2	2005			diet									
137590	Y	neuropathy, diabetic	NEUROLOGICAL	NEUR	Diabetic Neuropathies|Diabetes Mellitus, Type 1	4	4q28-q31	UCP1	141700499	141709457			16373902				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			Diabetes care. 2006 Jan;29(1):89-94	Functional polymorphisms of UCP2 and UCP3 are associated with a reduced prevalence of diabetic neuropathy in patients with type 1 diabetes		113730	14610	2	2006	 Our data indicate that both the G-866A polymorphism in the UCP2 gene and the C-55T polymorphism in the UCP3 gene are associated with a reduced risk of diabetic neuropathy in type 1 diabetes. Thus, the results presented here support the hypothesis that higher expression of uncoupling protein might prevent mitochondria-mediated neuronal injury and, ultimately, diabetic neuropathy.											
137591	Y	body mass	METABOLIC	MET		4	4q28-q31	UCP1	141700499	141709457		Nagai, N.  et al. 2003	14671150				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			The Journal of clinical endocrinology and metabolism. 2003 Dec;88(12):5661-7	The -3826 A-->G variant of the uncoupling protein-1 gene diminishes postprandial thermogenesis after a high fat meal in healthy boys.		113730	20062	2	2003	In conclusion, despite fat-induced sympathetic stimulation, GG allele carriers have a lowered capacity of TEM in response to fat intake, suggesting that such impaired UCP1-linked thermogenesis can have adverse effects on the regulation of body weight.	Cohort healthy boys, aged 8-11 years 	diet									
137592	Y	cholesterol, HDL; cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia|Obesity|Body Weight	4	4q28-q31	UCP1	141700499	141709457		Oh, H. H.  et al. 2004	15281018				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Korean	Korea	CDC GDPinfo	7350	Hs.249211			Metabolism:  clinical and experimental. 2004 Aug;53(8):1054-9	The effects of uncoupling protein-1 genotype on lipoprotein cholesterol level in Korean obese subjects		113730	20063	2	2004	These results suggest that the GG type of the UCP-1 gene has a strong association with increased LDL cholesterol level and might be a significant risk factor for hyper-LDL cholesterolemia among Korean obese subjects.	Cohort 190 Korean obese subjects with a body mass index more than 30 kg/m(2) 										
137593	N	sudden infant death	UNKNOWN	UNK	Sudden Infant Death	4	4q28-q31	UCP1	141700499	141709457		Fatemi, A.  et al. 2002	12029453				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Austria	CDC GDPinfo	7350	Hs.249211			European journal of pediatrics. 2002 Jun;161(6):337-9	Sudden infant death: no evidence for linkage tocommon polymorphisms in the uncoupling protein-1 and the beta3-adrenergic receptor genes.		113730	23848	2	2002	 Our data do not support a major association between the occurrence of sudden infant death and two common functional polymorphisms in the human uncoupling protein-1 and beta3-adrenergic receptor genes.	Case:53 Austrian SID victims;Control:54:controls										
137594		body mass; glucose tolerance; insulin; blood pressure; C-peptide; HbA1c	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Weight Gain	4	4q28-q31	UCP1	141700499	141709457		Sivenius, K.  et al. 2000	10805511				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Finnish		CDC GDPinfo	7350	Hs.249211			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):514-9	Synergistic effect of polymorphisms in uncoupling protein 1 and beta3-adrenergic receptor genes on long-term body weight change in Finnish type 2 diabetic and non-diabetic control subjects		113730	23849	2	2000	 The simultaneous existence of the two polymorphisms was associated with a tendency to gain weight suggesting a synergistic effect of these polymorphisms on body weight gain.	Control:123 non-diabetic control subjects;Case:70 newly diagnosed, middle-aged type 2 diabetic:patients eastern Finland										
137595	N	intrauterine growth; obesity; insulin resistance	REPRODUCTION	REP	Insulin Resistance|Obesity|Birth Weight	4	4q28-q31	UCP1	141700499	141709457		Urhammer, S. A.  et al. 2000	10999801				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Danish	Denmark	CDC GDPinfo	7350	Hs.249211			The Journal of clinical endocrinology and metabolism. 2000 Sep;85(9):3151-4	Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Dani		113730	23850	2	2000	the present study failed to demonstrate an additive or synergistic effect of the Trp/Arg64 variant of the BAR gene and the -3826 A-->G variant of the UCP1 gene on the development of obesity and insulin resistance among randomly recruited Danish Caucasian subjects.	Cohort 379 unrelated young Caucasian subjects Danish 										
137596	Y	body mass; insulin; glucose	METABOLIC	MET	Diabetes Mellitus|Obesity	4	4q28-q31	UCP1	141700499	141709457		Shihara, N.  et al. 2001	11439286				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			International journal of obesity and related metabolic disorders. 2001 Jun;25(6):761-6	Synergistic effect of polymorphisms of uncoupling protein 1 and beta3-adrenergic receptor genes on autonomic nervous system activity.		113730	23851	2	2001	 While UCP1 polymorphism alone does not affect ANS activity, it has a synergistic effect with beta3AR polymorphism in decreasing sympathetic nervous system activity.	Cohort 349 young (mean age 20.4+/-2.1 y old), healthy Japanese males 										
137597	Y	leptin levels	METABOLIC	MET	Obesity	4	4q28-q31	UCP1	141700499	141709457		Ramis, J. M.  et al. 2004	15536594				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Spanish	Spain	CDC GDPinfo	7350	Hs.249211			Metabolism:  clinical and experimental. 2004 Nov;53(11):1411-6	The Arg64 allele of the beta 3-adrenoceptor gene but not the -3826G allele of the uncoupling protein 1 gene is associated with increased leptin levels in the Spanish population.		113730	23852	2	2004	In conclusion, the beta(3)-AR Trp64Arg polymorphism might have an impact on the mechanisms involved in leptin release from adipose tissue. Furthermore, our results agree with the previously reported association between UCP1 -3826G allele and obesity and point to a gender-related effect.	Cohort 160/172 men (n=160) and women (n=172) randomly chosen from a nationwide population-based obesity cross-sectional survey Spain 										
137599		obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	4	4q28-q31	UCP1	141700499	141709457		Evans, D.  et al. 2001	11466580				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		113730	27322	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
137600		obesity	METABOLIC	MET	Obesity	4	4q28-q31	UCP1	141700499	141709457		Nieters, A.  et al. 2002	12395215				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDPinfo	7350	Hs.249211			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		113730	27663	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
137601		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	4	4q28-q31	UCP1	141700499	141709457		Watanabe, I.  et al. 2003	12732844				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Japanese	Japan	CDC GDPinfo	7350	Hs.249211			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		113730	28651	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
137602	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Obesity, Morbid	11	11q13	UCP2	73363363	73371537	n	Otabe S et al. 1998	9588459				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	caucasian	France	KGB	7351	Hs.80658			Diabetes. 1998 May;47(5):840-2	Mutation screening of the human UCP 2 gene in normoglycemic and NIDDM morbidly obese patients: lack of association between new UCP 2 polymorphisms and obesity in French Caucasians.		601693	6327	1	1998												
137604	N	Asthma	IMMUNE	IMM	Asthma	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	n	Adra 1999	10450859	A55V			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KCB	7356	Hs.523732			Clinical genetics. 1999 Jun;55(6):431-7			192020	6329	1	1999												
137605		Obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Esterbauer H 2001	11381268	G/A polymorphism			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			TJB	7351	Hs.80658			Nature genetics. 2001 Jun;28(2):178-83	A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans.		601693	6330	1	2001	We confirmed an obesity prevalence associated with the less-common allele in a population-based sample of 791 middle-aged subjects from the same geographic area. Despite its modest effect, but because of its high frequency ( approximately 63%), the more-common risk allele conferred a relatively large population-attributable risk accounting for 15% of the obesity in the population studied.	Control:256 never-obese middle-aged subjects;Case:340 obese middle-aged subjects										
137606	Y	Obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Yanovski JA 2000	10837279	Exon 8 and Exon 4 C to T transition ???????			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	African Americans. Asian. and Caucasian		TJB	7351	Hs.80658			The American journal of clinical nutrition. 2000 Jun;71(6):1405-20			601693	6331	1	2000	 The exon 8 ins/del polymorphism of UCP2 appears to be associated with childhood-onset obesity. The UCP2/UCP3 genetic locus may play a role in childhood body weight.											
137607	Y	Body Mass Index	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Body Weight	11	11q13	UCP2	73363363	73371537	p=0.018	Cassell PG 1999	10382588	Exon 8			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	South Indian	India|Great Britain	TJB	7351	Hs.80658			Diabetologia. 1999 Jun;42(6):688-92			601693	6332	1	1999	We have described a UCP2 gene exon 8 variant that may affect susceptibility to weight gain by influencing regulation of leptin.											
137608	Y	Overfeeding	OTHER	OTH	Obesity	11	11q13	UCP2	73363363	73371537		Ukkola O 2001	11641751	Alanine to Valine (A55V) and Insertion/Deletion			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			TJB	7351	Hs.80658			European journal of clinical nutrition. 2001 Nov;55(11):1008-15			601693	6333	1	2001	 These data suggest that UCP polymorphisms may play a role in the recovery from the overfeeding by regulating substrate oxidation in response to long-term caloric surplus. The association of the UCP2 A55V and UCP3 Rsa I CC genotypes with a greater increase in the TSH response to TRH load could reflect a compensatory mechanism counteracting the effects of overfeeding. A longer period of exposure to chronic positive energy balance conditions may be necessary before sequence variation in UCP2 and UCP3 makes an impact on thyroid metabolism to influence body mass and composition changes.											
137609	Y	peritoneal dialysis	OTHER	OTH	Kidney Failure, Chronic|Body Weight	11	11q13	UCP2	73363363	73371537		Nordfors L et al. 2000	10760107				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			KGB	7351	Hs.80658	Fat tissue accumulation		Kidney international. 2000 Apr;57(4):1713-9	Fat tissue accumulation during peritoneal dialysis is associated with a polymorphism in uncoupling protein 2.		601693	6334	1	2000	 As most patients with the deletion/deletion UCP2 genotype acquired fat tissue during PD, the present results suggest that the UCP2 polymorphism contributes to variations in body composition. Thus, variations in UCP2 production or activity may be factors contributing to adipose tissue accumulation in a subgroup of patients treated with PD. It is possible that the polymorphism has a similar effect in the general population.											
137611	N	Metabolic Syndrome	METABOLIC	MET	Metabolic Syndrome X|Obesity	11	11q13	UCP2	73363363	73371537	n	Rosmond R et al. 2002	12385772	Ala55Val			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		Sweden	KGB	7351	Hs.80658			Biochimica et biophysica acta. 2002 Nov;1588(2):103-5	Lack of association between the uncoupling protein-2 Ala55Val gene polymorphism and phenotypic features of the Metabolic Syndrome.		601693	6336	1	2002	We conclude that  the C-->T substitution in exon 4 of the UCP2 gene does not contribute to the predisposition to be affected by the Metabolic Syndrome.	Cohort 284 unrelated Swedish men born in 1944										
137612	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537	0.007	Walder K et al. 1998	9700198			coding sequence	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Pima Indians		KGB	7351	Hs.80658			Human molecular genetics. 1998 Sep;7(9):1431-5	Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians.		601693	6337	1	1998												
137614	Y	obesity	METABOLIC	MET		11	11q13	UCP2	73363363	73371537		Zheng Y et al. 2000	10751530				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Chinese		KGB	7351	Hs.80658			Zhonghua yi xue yi chuan xue za zhi. 2000 Apr;17(2):97-100	The association between A55V variant in UCP2 gene and body fat distribution serum lipid profile in Chinese		601693	6339	1	2000	 A55V variant in the UCP2 gene is associated not only with FA (in NGT females and type 2 diabetic females) but also with BMI (in NGT females). Therefore A55V variant in the UCP2 gene appears to play a role in body fat and its distribution in Chinese females.											
137615		obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Wang H 2004	12915397				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			KGB	7351	Hs.80658			American journal of physiology Endocrinology and metabolism. 2004 Jan;286(1):E1-7	Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion.		601693	6340	1	2004												
137616	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Esterbauer, H.  et al. 2001	11381268			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Nature genetics. 2001 Jun;28(2):178-83	A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans.		601693	14611	2	2001	We confirmed an obesity prevalence associated with the less-common allele in a population-based sample of 791 middle-aged subjects from the same geographic area. Despite its modest effect, but because of its high frequency ( approximately 63%), the more-common risk allele conferred a relatively large population-attributable risk accounting for 15% of the obesity in the population studied.	Control:256 never-obese middle-aged subjects;Case:340 obese middle-aged subjects										
137617	N	insulin; lipids; obesity; glucose; blood pressure; hormones	METABOLIC	MET	Metabolic Syndrome X|Obesity	11	11q13	UCP2	73363363	73371537		Rosmond, R.  et al. 2002	12385772				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		Sweden	CDC GDPinfo	7351	Hs.80658			Biochimica et biophysica acta. 2002 Nov;1588(2):103-5	Lack of association between the uncoupling protein-2 Ala55Val gene polymorphism and phenotypic features of the Metabolic Syndrome.		601693	14612	2	2002	We conclude that  the C-->T substitution in exon 4 of the UCP2 gene does not contribute to the predisposition to be affected by the Metabolic Syndrome.	Cohort 284 unrelated Swedish men born in 1944 										
137618	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	11	11q13	UCP2	73363363	73371537		Krempler, F.  et al. 2002	12401727			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Diabetes. 2002 Nov;51(11):3331-5	A functional polymorphism in the promoter of UCP2 enhances obesity risk but reduces type 2 diabetes risk in obese middle-aged humans.		601693	14613	2	2002	Thus, the more common UCP2 promoter G allele, while being conducive for obesity, affords relative protection against type 2 diabetes.	Control obese subjects without type 2 diabetes;Case:39 obese subject with type 2 diabetes										
137619		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	11	11q13	UCP2	73363363	73371537		Duarte, N. L.  et al. 2003	12690079				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		Tonga	CDC GDPinfo	7351	Hs.80658			Obesity research. 2003 Apr;11(4):512-7	A 45-bp insertion/deletion polymorphism of uncoupling protein 2 in relation to obesity in Tongans.		601693	14614	2	2003	We conclude that  there is a marked prevalence of obesity in Tonga, a prevalence that has increased since 1973. We also conclude that there is a unique, near-uniform distribution of the UCP2 45-bp ins/del polymorphism in Tongans. This may be the result of a founder effect and may be relevant to the prevalence of obesity and type 2 diabetes in Tonga.	Cohort 1012 Tongan subjects Tongan 										
137620	Y	insulin	METABOLIC	MET		11	11q13	UCP2	73363363	73371537		Sesti, G.  et al. 2003	12716765			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Diabetes. 2003 May;52(5):1280-3	A common polymorphism in the promoter of UCP2 contributes to the variation in insulin secretion in glucose-tolerant subjects.		601693	14615	2	2003	These results indicate that the common -866G/A polymorphism in the UCP2 gene may contribute to the biological variation of insulin secretion in humans.	Cohort 301 nondiabetic subjects who underwent an oral glucose tolerance test 										
137621	N	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Schauble, N.  et al. 2003	12746756	-866 G/A		promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Experimental and clinical endocrinology & diabetes. 2003 Apr;111(2):73-6	No evidence for involvement of the promoter polymorphism -866 G/A of the UCP2 gene in childhood-onset obesity in humans.		601693	14616	2	2003	The PDT analysis revealed no evidence for transmission disequilibrium in obesity. Allele and genotype frequencies did not differ between the extremely obese and never-obese subjects. In conclusion, we cannot confirm the results of ) in our young sample.	Control:188 never-obese controls;Case:277 extremely obese children and adolescents (including the 93 index patients of the concordant sib pairs)										
137622	N	obesity	METABOLIC	MET	Obesity, Morbid	11	11q13	UCP2	73363363	73371537		Maestrini, S.  et al. 2003	14759071				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Caucasian	Italy	CDC GDPinfo	7351	Hs.80658			Journal of endocrinological investigation. 2003 Oct;26(10):985-90	Lack of association between UCP2 gene polymorphisms and obesity phenotype in Italian Caucasians.		601693	14617	2	2003	These results, in accordance with similar findings previously obtained in other ethnic groups, suggest that these two UCP2 allelic variants may not have a direct role in the pathogenesis and development of obesity.	Control:103 normal weight subjects;Case:104 obese subjects;Case:360 morbidlty obese patients;Control:50 lean subjects										
137623	Y	diabetes, type 2; hypertension; obesity, localized	METABOLIC	MET	Hypertension|Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperinsulinism|Insulin Resistance|Obesity|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Ji, Q.  et al. 2004	15106800				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		Japan	CDC GDPinfo	7351	Hs.80658			Journal of hypertension. 2004 Jan;22(1):97-102	A common polymorphism of uncoupling protein 2 gene is associated with hypertension		601693	14618	2	2004	 These data indicate that the polymorphism of the UCP2 gene is associated with hypertension, and suggest the possibility of UCP2 as a target molecule for studies on the etiology and treatment of hypertension.	Control:134 control subjects;Case:342/156 unrelated Japanese subjects with type 2 diabetic patients (n=342; among them, 158 patients complicated with hypertension) and hypertensive patients without diabetes mellitus (n=156)										
137625	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	11	11q13	UCP2	73363363	73371537		Ando, T.  et al. 2004	15564896				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Psychiatric genetics. 2004 Dec;14(4):215-8	Uncoupling protein-2/uncoupling protein-3 gene polymorphism is not associated with anorexia nervosa.		601693	14620	2	2004	The hypothesis that differences in the UCP-2/3 gene influence the susceptibility to AN was not supported.	Case:106 female Japanese anorexia nervosa sufferers;Control:126 normal female controls										
137626	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Vogler, S.  et al. 2005	16021520			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Journal of molecular medicine (Berlin, Germany). 2005 Oct;83(10):806-11	Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis.		601693	14622	2	2005												
137627	Y	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Volcik, K. A.  et al. 2003	12797456				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		California	CDC GDPinfo	7351	Hs.80658			Birth defects research Part A, Clinical and molecular teratology. 2003 Mar;67(3):158-61	Risk factors for neural tube defects: associationsbetween uncoupling protein 2 polymorphisms and spina bifida.		601693	20064	2	2003	 These data are the first to suggest that polymorphisms in the UCP2 gene may be genetic risk factors of spina bifida.	Case infants with spina bifida;Control nonmalformed control infants										
137628	N	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Dalgaard, L. T.  et al. 2003	14627764			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Danish	Denmark	CDC GDPinfo	7351	Hs.80658			Obesity research. 2003 Nov;11(11):1420-7	Mutational Analysis of the UCP2 Core Promoter and Relationships of Variants with Obesity		601693	20065	2	2003	Variation of the UCP2 promoter including the single common variant (-866 A/G) is not associated with obesity or obesity-related intermediary phenotypes in Danish subjects.	Cohort ;Case:749 men obese as young adults;Control:816 men of the same age representing the background:population										
137629	Y	atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies	11	11q13	UCP2	73363363	73371537		Dhamrait, S. S.  et al. 2004	15039126				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			European heart journal. 2004 Mar;25(6):468-75	Cardiovascular risk in healthy men and markers of oxidative stress in diabetic men are associated with common variation in the gene for uncoupling protein 2		601693	20066	2	2004	 This study provides the first in vivo evidence of a role for UCP2 in modifying oxidative stress and CHD risk in humans.	Cohort 465 diabetic men with and without coronary heart disease 										
137630	Y	body mass	METABOLIC	MET		11	11q13	UCP2	73363363	73371537		Damcott, C. M.  et al. 2004	15045692				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Metabolism:  clinical and experimental. 2004 Apr;53(4):458-64	Genetic variation in uncoupling protein 3 is associated with dietary intake and body composition in females		601693	20067	2	2004	These results support a role for UCP3 in fuel substrate management and energy metabolism, which may influence body weight regulation.	Cohort 722 nondiabetic participatns of the San Luis Valley Diabetes Stdy 										
137631	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Marti, A.  et al. 2004	15165610				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Spanish	Spain	CDC GDPinfo	7351	Hs.80658			Nutrition (Burbank, Los Angeles County, Calif). 2004 Jun;20(6):498-501	Higher obesity risk associated with the exon-8 insertion of the UCP2 gene in a Spanish case-control study		601693	20069	2	2004	 We found a greater risk of developing obesity among individuals carrying the exon-8 insertion allele in the UCP2 gene, independent of sex, age, physical activity, and sedentary lifestyle, which may partly explain some discrepancies found in the literature.	Control:150 healthy subjects with a body mass index less than 25 kg/m(2);Case:157 subjects with a body mass index greater than 30 kg/m(2) (obesity) and no other major disease except for type 2 diabetes	physical activity									
137632	N	body mass	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Berentzen, T.  et al. 2004	15520825				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Danish		CDC GDPinfo	7351	Hs.80658			International journal of obesity (2005). 2005 Jan;29(1):93-9	Interactions between physical activity and variants of the genes encoding uncoupling proteins -2 and -3 in relation to body weight changes during a 10-y follow-up.		601693	20071	2	2004	 This study does not support that interactions between physical activity and variants in the UCP2- or UCP3-gene are major determinants of subsequent weight changes in Danish Caucasian men.	Case:568 men who at the draft board had a BMI >/=31 kg/m(2):Copenhagen;Control:717 randomly selected draftees	physical activity									
137633	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension	11	11q13	UCP2	73363363	73371537		Oberkofler, H.  et al. 2004	15604415				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Arteriosclerosis, thrombosis, and vascular biology. 2005 Mar;25(3):604-10	Associations of the UCP2 gene locus with asymptomatic carotid atherosclerosis in middle-aged women.		601693	20072	2	2004	 Our results suggest a role of UCP2 in atherogenesis as originally proposed from studies in animal and cell culture models.	Cohort 1,334 participants of the Salzburg Atherosclerosis Prevention Program in Subjects at High Individual Risk 										
137634	Y	body mass; diabetes, type 2; energy expenditure	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Kovacs, P.  et al. 2005	16167150				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Pima Indian	Arizona	CDC GDPinfo	7351	Hs.80658			Diabetologia. 2005 Nov;48(11):2292-5	Genetic variation in UCP2 (uncoupling protein-2) is associated with energy metabolism in Pima Indians.		601693	20074	2	2005												
137635	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	11	11q13	UCP2	73363363	73371537		Xiu, L. L.  et al. 2004	15061987				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Zhonghua yi xue za zhi. 2004 Mar;84(5):375-9	[Common variants in beta 3-adrenergic-receptor and uncoupling protein-2 genes are associated with type 2 diabetes and obesity]		601693	23853	2	2004	 The homozygote of UCP2 gene Ala55Val mutation significantly enhances the risks of diabetes and obesity. The homozygote of beta(3)-AR gene Trp64Arg mutation is related with diabetes. The accumulation of the effects of two micro-genes creates obvious phenotypic effects.	Case:173/119 type 2 diabetic (n=173) and obese (n=119) persons;Control:177 control subjects										
137636	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Sui, Y.  et al. 2004	15192823				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Chinese		CDC GDPinfo	7351	Hs.80658			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):229-32	[Additive effects of the variants in the beta(3)-adrenergic receptor and uncoupling protein-2 genes on obesity in Chinese]		601693	23854	2	2004	 The homozygote of UCP2 gene Ala55Val mutation increases the risk of obesity. Though the UCP2 gene mutation alone or the ADR beta(3) gene mutation alone is not associated with obesity, the possible additive effects of the two micro-genes increase the occurring of obesity.	Case:119 obese subject with mean BMI (27.9+/-2.98)kg/m(2);Control:177 control subjects with mean BMI(21.9+/-1.9)kg/m(2)										
137638		body mass; insulin; obesity; glucose	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Park, H. S.  et al. 2005	15959859				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2		Korea	CDC GDPinfo	7351	Hs.80658			Journal of human genetics. 2005 ;50(7):365-9	Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18.3% of adolescent obesity variation.		601693	26734	2	2005												
137639		insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity, Morbid|Weight Loss	11	11q13	UCP2	73363363	73371537		Sesti, G.  et al. 2005	15985484				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5064-9	Impact of common polymorphisms in candidate genes for insulin resistance and obesity on weight loss of morbidly obese subjects after laparoscopic adjustable gastric banding and hypocaloric diet.		601693	26735	2	2005	 These data demonstrate that genetic factors, which play an important role in the regulation of body weight, may account for differences in the therapeutic response to LAGB.											
137640	N	weight gain	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain	11	11q13	UCP2	73363363	73371537		van Rossum, C. T.  et al. 2002	12075579				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Dutch	Netherlands	CDC GDPinfo	7351	Hs.80658			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):517-28	Genetic factors as predictors of weight gain in young adult Dutch men and women.		601693	27323	2	2002	 Only variations in the ADRB2 gene and LEPR gene, may contribute to susceptibility to weight gain. None of the other studied genetic markers were clearly associated with weight gain. Further research is necessary to establish the role of lifestyle factors, or interactions between genes or between genes and lifestyle factors on weight gain with age.	Case:286 subjects aged 20-40 y who gained an average of 12.8 kg (range 5.5-47 kg) during a mean follow-up of 6.8 y from two large cohorts in The Netherlands;Control:296 subjects who remained relatively constant over the same period										
137642		obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Nieters, A.  et al. 2002	12395215				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		601693	27877	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
137643	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q13	UCP3	73388984	73397778	p=0.04???	Meirhaeghe A 2000	11126413	``-55 C/T polymorphism			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	French	France	TJB	7352	Hs.101337			Diabetologia. 2000 Nov;43(11):1424-8	An uncoupling protein 3 gene polymorphism associated with a lower risk of developing Type II diabetes and with atherogenic lipid profile in a French cohort.		602044	6341	1	2000	The UCP3 -55 C/T polymorphism was associated with a higher atherogenic profile and modified the risk for the development of Type II diabetes.	Control:124 non-type II diabetic patients;Case:171 type II diabetes patients:France										
137644	Y	Overfeeding	OTHER	OTH	Obesity	11	11q13	UCP3	73388984	73397778		Ukkola O 2001	11641751	Rsa I			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			TJB	7352	Hs.101337			European journal of clinical nutrition. 2001 Nov;55(11):1008-15			602044	6342	1	2001	 These data suggest that UCP polymorphisms may play a role in the recovery from the overfeeding by regulating substrate oxidation in response to long-term caloric surplus. The association of the UCP2 A55V and UCP3 Rsa I CC genotypes with a greater increase in the TSH response to TRH load could reflect a compensatory mechanism counteracting the effects of overfeeding. A longer period of exposure to chronic positive energy balance conditions may be necessary before sequence variation in UCP2 and UCP3 makes an impact on thyroid metabolism to influence body mass and composition changes.											
137645		diabetes and obesity	METABOLIC	MET	Diabetes Mellitus|Obesity|Obesity, Morbid	11	11q13	UCP3	73388984	73397778		Otabe S et al. 1999	9892245				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			KGB	7352	Hs.101337			Diabetes. 1999 Jan;48(1):206-8	Mutation screening and association studies of the human uncoupling protein 3 gene in normoglycemic and diabetic morbidly obese patients.		602044	6343	1	1999												
137646	Y	body composition changes	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Lanouette CM et al. 2002	11842047				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			KGB	7352	Hs.101337			Journal of applied physiology (Bethesda, Md :  1985). 2002 Mar;92(3):1111-8	Uncoupling protein 3 gene is associated with body composition changes with training in HERITAGE study.		602044	6344	1	2002	We concluded that UCP3 could be involved in body composition changes after regular exercise.											
137647	Y	Obesity	METABOLIC	MET	Obesity, Morbid	11	11q13	UCP3	73388984	73397778		Otabe S 2000	10753049	``+G-->A in exon 1. 155 C-->T. -439 A Insertion. and -55 C-->T located at 6bp			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	French	France	TJB	7352	Hs.101337			Diabetologia. 2000 Feb;43(2):245-9			602044	6345	1	2000	The C-->T polymorphism in the 5' sequences of the UCP3 gene might contribute to the corpulence in obese and normal weight subjects and alter the benefit of physical activity. The UCP3 gene can be considered as a gene modifying corpulence.	Case:401; Control:231										
137648	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q13	UCP3	73388984	73397778		Dalgaard LT 2001	11484089	-55 C -->T			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		Denmark	Y Wang	7352	Hs.101337			Diabetologia. 2001 Aug;44(8):1065-7	The uncoupling protein 3 -55 C -->T variant is not associated with Type II diabetes mellitus in Danish subjects.		602044	6346	1	2001												
137650	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Lanouette CM et al. 2001	11683368				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		Quebec	KGB	7352	Hs.101337			Molecular medicine (Cambridge, Mass). 2001 Jul;7(7):433-41	Association between uncoupling protein 3 gene and obesity-related phenotypes in the Quebec Family Study.		602044	6348	1	2001	 Our results suggest that some alleles of UCP3 are involved in the etiology of human obesity.	Cohort 734 subjects from the Quebec Family Study Quebec										
137651	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537	0.04	Walder K et al. 1998	9700198				uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Pima Indians			7352	Hs.80658			Human molecular genetics. 1998 Sep;7(9):1431-5	Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians.		601693	6349	1	1998	These results suggest a contribution from UCP2 (or UCP3) to variation in metabolic rate in young Pima Indians which may contribute to overall body fat content later in life.											
137652	Y	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q13	UCP3	73388984	73397778		Meirhaeghe, A.  et al. 2000	11126413				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	French	France	CDC GDPinfo	7352	Hs.101337			Diabetologia. 2000 Nov;43(11):1424-8	An uncoupling protein 3 gene polymorphism associated with a lower risk of developing Type II diabetes and with atherogenic lipid profile in a French cohort.		602044	14623	2	2000	The UCP3 -55 C/T polymorphism was associated with a higher atherogenic profile and modified the risk for the development of Type II diabetes.	Control:124 non-type II diabetic patients;Case:171 type II diabetes patients:France										
137653	Y	body fat	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q13	UCP3	73388984	73397778		Cassell, P. G.  et al. 2000	11151767				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	European	Asia|India|Europe|Great Britain	CDC GDPinfo	7352	Hs.101337			Diabetologia. 2000 Dec;43(12):1558-64	Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin.		602044	14624	2	2000	consistent association between the t-allele at this locus and waist-to-hip ratio in women from three separate data sets variation at this polymorphism (or another locus with which it is linkage disequilibrium) influences fat distribution but that this is restricted to females.	Cohort 85/150 85 South Indian and 150 parent-offspring trios ascertained through Type II diabetic in 455 South Indian subjects 										
137654		obesity; body weight	METABOLIC	MET	Obesity|Obesity, Morbid|Body Weight	11	11q13	UCP3	73388984	73397778		Dalgaard, L. T.  et al. 2001	11238538			promoter	Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Danish	Denmark	CDC GDPinfo	7352	Hs.101337			The Journal of clinical endocrinology and metabolism. 2001 Mar;86(3):1398-402	A prevalent polymorphism in the promoter of the UCP3 gene and its relationship to body mass index and long term body weight change in the Danish population.		602044	14625	2	2001	It is concluded that this variant does not play a major role in the development of common obesity among Danish subjects.	Cohort 258 middle aged subjects Denmark Cohort 409 60 year old subjects Denmark ;Case:744 obese men who had a BMI > 31 kg/m at draft board:examinations:Denmark;Control:857 randomly selected draftees:Denmark										
137655	N	endurance, elite	NORMALVARIATION	NV		11	11q13	UCP3	73388984	73397778		Hudson, D. E.  et al. 2004	15346230	- 55 C/T			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	South African		CDC GDPinfo	7352	Hs.101337			International journal of sports medicine. 2004 Aug;25(6):427-32	The - 55 C/T Polymorphism within the UCP3 Gene and Performance During the South African Ironman Triathlon		602044	14626	2	2004	Thus no association was found between the - 55 C/T polymorphism within the uncoupling protein 3 gene and the ultra-endurance performance of triathletes who completed either the 2000 or 2001 South African Ironman triathlons.	Case:89/89 fastest (n=89) and slowest (n=89) Caucasian, male triathletes who completed either the 2000 or 2001 South African Ironman triathlon events;Control:92 Caucasian males who had not trained for or participated in an ultra-endurance athletic event										
137656		obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Alonso, A.  et al. 2005	16006788	- 55 C/T			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Spanish	Spain	CDC GDPinfo	7352	Hs.101337			Annals of nutrition & metabolism. 2005 May-Jun;49(3):183-8	Association of UCP3 gene -55C>T polymorphism and obesity in a Spanish population.		602044	14627	2	2005	 UCP3 -55C>T polymorphism carriers have apparently a lower risk of obesity when taking into consideration recreational energy expenditure. Interestingly, this inverse beneficial association may only occur in people with a high level of physical activity.		physical activity									
137657		obesity	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Fang, Q.  et al. 2005	16215931	- 55 C/T			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Chinese		CDC GDPinfo	7352	Hs.101337			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):485-8	Effect of polymorphism of uncoupling protein 3 gene -55 (C>T) on the resting energy expenditure, total body fat and regional body fat in Chinese.		602044	14628	2	2005	 The level of difference in REE caused by the polymorphism of promoter region of UCP3 -55(C>T) may play a role in energy metabolism in Chinese.											
137659	Y	obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Lanouette, C. M.  et al. 2001	11683368				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		Quebec	CDC GDPinfo	7352	Hs.101337			Molecular medicine (Cambridge, Mass). 2001 Jul;7(7	Association between uncoupling protein 3 gene and obesity-related phenotypes in the Quebec Family Study		602044	20076	2	2001	 Our results suggest that some alleles of UCP3 are involved in the etiology of human obesity.	Cohort 734 subjects from the Quebec Family Study Quebec 										
137660	Y	diabetes, type 2; body fat; lipid metabolism	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q13	UCP3	73388984	73397778		Shen, H.  et al. 2002	12170470				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Chinese	China	CDC GDPinfo	7352	Hs.101337			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):317-21	[Effects of uncoupling protein 3 gene -55 C-->T variant on lipid metabolism, body fat, its distribution and non-insulin-dependent diabetes mellitus in Chinese]		602044	20077	2	2002	 Although UCP3 gene 55 C-->T variant is associated with lipid metabolism, body fat and its distribution in Chinese, the association is dependent on sex and disease status. The variant is also associated with NIDDM in Chinese.	Case:151 Chinese patients with type 2 diabetes;Control:165 individuals with normal glucose tolerance										
137661		atherosclerosis, coronary; metabolism disorders	CARDIOVASCULAR	CARD	Coronary Disease|Metabolic Syndrome X|Obesity|Weight Loss	11	11q13	UCP3	73388984	73397778		Kim, O. Y.  et al. 2004	14708035				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):434-41	Additive effect of the mutations in the beta3-adrenoceptor gene and UCP3 gene promoter on body fat distribution and glycemic control after weight reduction in overweight subjects with CAD or metabolic syndrome.		602044	23856	2	2004	 All the four groups showed similar weight reduction after -300 kcal/d for 12 weeks. However, the beneficial effects on body fat distribution and glycemic control were greatest in the 'wild-type' group and smallest in 'both variants' group. In addition, these effects were less beneficial in carriers with beta3-AR gene variant than with UCP3 gene promoter variant.	Cohort 224 overweight-obese subjects with CAD or metabolic disorder 	diet									
137662		body mass	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	11	11q13	UCP3	73388984	73397778		Herrmann, S. M.  et al. 2003	12756473				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			Journal of molecular medicine (Berlin, Germany). 2003 May;81(5):327-32	Uncoupling protein 1 and 3 polymorphisms are associated with waist-to-hip ratio.		602044	23857	2	2003	In conclusion, central obesity in whites as reflected by an increased waist-to-hip ratio is associated with the UCP-1 Ala64Thr and UCP-3 C-55T polymorphisms. To what extent these genotypes contribute to the overall cardiovascular risk remains to be elucidated.	Cohort 162 Caucasians 										
137663	N	anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	11	11q13	UCP3	73388984	73397778		Ando, T.  et al. 2004	15564896				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			Psychiatric genetics. 2004 Dec;14(4):215-8	Uncoupling protein-2/uncoupling protein-3 gene polymorphism is not associated with anorexia nervosa.		602044	23858	2	2004	The hypothesis that differences in the UCP-2/3 gene influence the susceptibility to AN was not supported.	Case:106 female Japanese anorexia nervosa sufferers;Control:126 normal female controls										
137664	Y	body mass	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Damcott, C. M.  et al. 2004	15045692				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			Metabolism:  clinical and experimental. 2004 Apr;53(4):458-64	Genetic variation in uncoupling protein 3 is associated with dietary intake and body composition in females		602044	23859	2	2004	These results support a role for UCP3 in fuel substrate management and energy metabolism, which may influence body weight regulation.	Cohort 722 nondiabetic participatns of the San Luis Valley Diabetes Stdy 										
137665	N	body mass	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Berentzen, T.  et al. 2004	15520825				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Danish		CDC GDPinfo	7352	Hs.101337			International journal of obesity (2005). 2005 Jan;29(1):93-9	Interactions between physical activity and variants of the genes encoding uncoupling proteins -2 and -3 in relation to body weight changes during a 10-y follow-up.		602044	23860	2	2004	 This study does not support that interactions between physical activity and variants in the UCP2- or UCP3-gene are major determinants of subsequent weight changes in Danish Caucasian men.	Case:568 men who at the draft board had a BMI >/=31 kg/m(2):Copenhagen;Control:717 randomly selected draftees	physical activity									
137667		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	11	11q13	UCP3	73388984	73397778		Meirhaeghe, A.  et al. 2005	15978856				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		France	CDC GDPinfo	7352	Hs.101337			Molecular genetics and metabolism. 2005 Sep-Oct;86(2-Jan):293-9	Lack of association between certain candidate gene polymorphisms and the metabolic syndrome.		602044	27324	2	2005												
137669		obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Nieters, A.  et al. 2002	12395215				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		602044	28021	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
137670	N	Gaucher disease	METABOLIC	MET	Gaucher Disease	9	9q31	UGCG	113699026	113735254		Beutler, E.  et al. 2002	12489486				UDP-glucose ceramide glucosyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ420423	Jewish		CDC GDPinfo	7357	Hs.304249			The Israel Medical Association journal. 2002 Nov;4(11):986-8	Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.		602874	14629	2	2002	 Mutations in the glucosylceramide synthase gene do not appear to account for the variability in expression of the common Jewish Gaucher disease mutation.	Cohort Patients homozygous for the 1226G (N370S) mutation 										
137671		prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13	UGT2B15	69194909	69218969		MacLeod, S. L.  et al. 2000	11129427				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			Annals of surgical oncology. 2000 Dec;7(10):777-82	An allele-specific polymerase chain reaction method for the determination of the D85Y polymorphism in the human UDP-glucuronosyltransferase 2B15 gene in a case-control study of prostate cancer.		600069	14681	2	2000	 These results suggest that individuals who are homozygous for the lower activity allele may be at increased risk for developing prostate cancer.	Case:64 prostate cancer cases;Control:64:controls										
137672	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Cell Transformation, Neoplastic	4	4q13	UGT2B15	69194909	69218969		Hajdinjak, T.  et al. 2004	15065092	D85Y			UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			The Prostate. 2004 Jun;59(4):436-9	Prostate cancer and polymorphism D85Y in gene for dihydrotestosterone degrading enzyme UGT2B15:Frequency of DD homozygotes increases with Gleason Score.		600069	14682	2	2004	 Polymorphism D85Y in gene UGT2B15 correlates with differentiation of PCa.	Control:178:controls;Case:206 prostate cancer cases										
137673	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13	UGT2B15	69194909	69218969		Park, J.  et al. 2004	15126881				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			The Journal of urology. 2004 Jun;171(6 Pt 1):2484-8	Asp85tyr polymorphism in the udp-glucuronosyltransferase (UGT) 2B15 gene and the risk of prostate cancer.		600069	14683	2	2004	 These results suggest that the UGT2B15 enzyme may have a role in the metabolism of dihydrotestosterone in prostate tissue and UGT2B15 Asp85Tyr polymorphism is associated with prostate cancer risk.	Control:155 individually age matched (+/-5 years) white:controls;Case:155 incident white patients with primary prostate:cancer										
137674		oxazepam glucuronidation	OTHER	OTH		4	4q13	UGT2B15	69194909	69218969		Court, M. H.  et al. 2004	15044558				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			The Journal of pharmacology and experimental therapeutics. 2004 Aug;310(2):656-65	UDP-glucuronosyltransferase (UGT) 2B15 pharmacogenetics: UGT2B15 D85Y genotype and genderare major determinants of oxazepam glucuronidation by human liver	1902023	600069	20117	2	2004	In conclusion, gender and D85Y genotype are identified as major determinants of S-oxazepam glucuronidation by human liver, and may explain in part polymorphic oxazepam glucuronidation by human subjects.	Cohort 54 human livers 										
137675		liver cancer	CANCER	CAN		4	4q13	UGT2B15	69194909	69218969		Toide, K.  et al. 2002	15618667				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1	Japanese		CDC GDPinfo	7366	Hs.150207			Drug metabolism and pharmacokinetics. 2002 ;17(2):164-6	A Major Genotype in UDP-glucuronosyltransferase 2B15		600069	20118	2	2002	The allele frequency of this SNP was 79% in Japanese, suggesting this polymorphism to be a major genotype in Japanese people.	Cohort healthy Japanese subjects 										
137676		lorazepam pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B15	69194909	69218969		Chung, J. Y.  et al. 2005	15961980				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			Clinical pharmacology and therapeutics. 2005 Jun;77(6):486-94	Effect of the UGT2B15 genotype on the pharmacokinetics, pharmacodynamics, and drug interactions of intravenous lorazepam in healthy volunteers.		600069	20119	2	2005	 Our results suggest that the UGT2B15*2 polymorphism is a major determinant of interindividual variability with respect to the pharmacokinetics and pharmacodynamics of lorazepam.											
137677		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local	4	4q13	UGT2B15	69194909	69218969		Nowell, S. A.  et al. 2005	15952058				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			Breast cancer research and treatment. 2005 Jun;91(3):249-58	Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients.		600069	25754	2	2005			tamoxifen									
137678		breast cancer; testosterone; estradiol	CANCER	CAN	Breast Neoplasms	4	4q13	UGT2B15	69194909	69218969		Sparks, R.  et al. 2004	15318931				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			Breast cancer research. 2004 ;6(5):R488-98	UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.		600069	25755	2	2004	 The risk of ER- breast cancer tumors may vary by UGT or SULT genotype. Further, plasma estradiol and testosterone concentrations in breast cancer patients may differ depending on some UGT and SULT genotypes.	Cohort 163 breast cancer patients from a population-based cohort study of women western Washington 										
137679		cancer; Gilbert syndrome	CANCER	CAN		4	4q13	UGT2B15	69194909	69218969		Guillemette, C.   2003	12815363				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDPinfo	7366	Hs.150207			The pharmacogenomics journal. 2003 ;3(3):136-58	Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.		600069	26740	2	2003	Review article		Irinotecan									
137680		breast cancer; testosterone; estradiol; morphine glucuronidation	CANCER	CAN		4	4q13	UGT2B4	70380472	70396205		Saeki, M.  et al. 2004	15319348				UDP glucuronosyltransferase 2 family, polypeptide B4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021139.1	Japanese		CDC GDPinfo	7363	Hs.285887			Drug metabolism and disposition:  the biological fate of chemicals. 2004 Sep;32(9):1048-54	Single nucleotide polymorphisms and haplotype frequencies of UGT2B4 and UGT2B7 in a Japanese population.		600067	14688	2	2004	Our findings provide fundamental and useful information for genotyping UGT2B4 and UGT2B7 in the Japanese, and probably other populations.	Cohort 136 Japanese individuals Japan 										
137681		breast cancer; testosterone; estradiol	CANCER	CAN	Breast Neoplasms	4	4q13	UGT2B4	70380472	70396205		Sparks, R.  et al. 2004	15318931				UDP glucuronosyltransferase 2 family, polypeptide B4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021139.1			CDC GDPinfo	7363	Hs.285887			Breast cancer research. 2004 ;6(5):R488-98	UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.		600067	26741	2	2004	 The risk of ER- breast cancer tumors may vary by UGT or SULT genotype. Further, plasma estradiol and testosterone concentrations in breast cancer patients may differ depending on some UGT and SULT genotypes.	Cohort 163 breast cancer patients from a population-based cohort study of women western Washington 										
137683		morphine glucuronidation	OTHER	OTH		4	4q13	UGT2B7	69996813	70013293		Duguay, Y.  et al. 2004	15001974			promoter	UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Clinical pharmacology and therapeutics. 2004 Mar;75(3):223-33	A novel functional polymorphism in the uridine diphosphate-glucuronosyltransferase 2B7 promoter with significant impact on promoter activity.		600068	14686	2	2004	Further studies in larger samples are needed to make conclusions about the possible clinical relevance of the -79 polymorphism in the UGT2B7 gene.	Cohort patients with cancer 										
137685	N	morphine glucuronidation	OTHER	OTH	Neoplasms	4	4q13	UGT2B7	69996813	70013293		Holthe, M.  et al. 2003	12629580				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			The pharmacogenomics journal. 2003 ;3(1):17-26	Sequence variations in the UDP-glucuronosyltransferase 2B7 (UGT2B7) gene:identification of 10 novel single nucleotide polymorphisms (SNPs) and analysis of their relevance to morphine glucuronidation in cancer patients.		600068	20120	2	2003	Our results suggest that factors other than UGT2B7 polymorphism may be more deciding for the variability in morphine glucuronide to morphine serum ratios.	Cohort 239 cancer patients who received chronic oral morphine therapy, and who had normal renal and hepatic function Norway 	morphine									
137687	N	cancer	CANCER	CAN	Neoplasms|Pain	4	4q13	UGT2B7	69996813	70013293		Holthe, M.  et al. 2002	12185559				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			European journal of clinical pharmacology. 2002 Aug;58(5):353-6	Morphine glucuronide-to-morphine plasma ratios are unaffected by the UGT2B7 H268Y and UGT1A1*28 polymorphisms in cancer patients on chronic morphine therapy.		600068	23883	2	2002	 The UGT2B7 H268Y polymorphism cannot account for the considerable variation in glucuronide-to-morphine ratios in cancer patients. Moreover, the contribution of UGT1A1 to the formation of M3G appears to be of minor biological significance, at least in a UGT2B7 background.	Cohort 70 patients with normal hepatic and renal function using slow-release morphine to relieve cancer pain 	morphine									
137688	Y	NNAL-glucuronidating activities	OTHER	OTH		4	4q13	UGT2B7	69996813	70013293		Wiener, D.  et al. 2004	14871856				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Cancer research. 2004 Feb;64(3):1190-6	Correlation between UDP-glucuronosyltransferase genotypes and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone glucuronidation phenotype in human liver microsomes		600068	23884	2	2004	These data suggest that the UGT1A4 codon 24 and UGT2B7 codon 268 polymorphisms may be associated with altered rates glucuronidation and detoxification of NNAL in vivo.	Cohort 78 human liver microsomal specimens 										
137689		breast cancer; testosterone; estradiol; morphine glucuronidation	CANCER	CAN		4	4q13	UGT2B7	69996813	70013293		Saeki, M.  et al. 2004	15319348				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1	Japanese		CDC GDPinfo	7364	Hs.631944			Drug metabolism and disposition:  the biological fate of chemicals. 2004 Sep;32(9):1048-54	Single nucleotide polymorphisms and haplotype frequencies of UGT2B4 and UGT2B7 in a Japanese population.		600068	23885	2	2004	Our findings provide fundamental and useful information for genotyping UGT2B4 and UGT2B7 in the Japanese, and probably other populations.	Cohort 136 Japanese individuals Japan 										
137690		colorectal cancer; drug hypersensitivity; liver cancer; bladder cancer	CANCER	CAN		4	4q13	UGT2B7	69996813	70013293			16397224				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Cancer research. 2006 Jan;66(1):125-33	Characterization of Common UGT1A8, UGT1A9, and UGT2B7 Variants with Different Capacities to Inactivate Mutagenic 4-Hydroxylated Metabolites of Estradiol and Estrone		600068	25756	2	2006												
137691		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Confusion|Pain, Intractable|Nausea	4	4q13	UGT2B7	69996813	70013293		Ross, J. R.  et al. 2005	16103897				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			The pharmacogenomics journal. 2005 ;5(5):324-36	Clinical response to morphine in cancer patients and genetic variation in candidate genes.		600068	26742	2	2005												
137692		cancer; Gilbert syndrome	CANCER	CAN		4	4q13	UGT2B7	69996813	70013293		Guillemette, C.   2003	12815363				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			The pharmacogenomics journal. 2003 ;3(3):136-58	Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.		600068	27330	2	2003	Review article		Irinotecan									
137693		breast cancer; testosterone; estradiol	CANCER	CAN	Breast Neoplasms	4	4q13	UGT2B7	69996813	70013293		Sparks, R.  et al. 2004	15318931				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Breast cancer research. 2004 ;6(5):R488-98	UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.		600068	27331	2	2004	 The risk of ER- breast cancer tumors may vary by UGT or SULT genotype. Further, plasma estradiol and testosterone concentrations in breast cancer patients may differ depending on some UGT and SULT genotypes.	Cohort 163 breast cancer patients from a population-based cohort study of women western Washington 										
137694		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3q13	UMPS	125931902	125946318			16328050				Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000373.1			CDC GDPinfo	7372	Hs.2057			Oncology reports. 2006 Jan;15(1):161-5	The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer		258900	14690	2	2006			5-flurouracil									
137695		vesicoureteral reflux	OTHER	OTH	Vesico-Ureteral Reflux|Genetic Predisposition to Disease	19	19q13.13	UPK1A	40849554	40861207		Jiang, S.  et al. 2004	15200408				Uroplakin 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007000.2			CDC GDPinfo	11045	Hs.159309			Kidney international. 2004 Jul;66(1):9-Oct	Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for diseaseheterogeneity.			20126	2	2004	 Such a weak association and the lack of families with simple dominant Mendelian inheritance suggest that missense changes of uroplakin genes cannot play a dominant role in causing VUR in humans, although they may be weak risk factors contributing to a complex polygenic disease. The fact that no truncation or frame shift mutations have been found in any of the VUR patients, coupled with our recent finding that some breeding pairs of UP III knockout mice yield litters that show not only VUR, but also severe hydronephrosis and neonatal death, raises the possibility that major uroplakin mutations could be embryonically or postnatally lethal in humans.	Case:76 patients with radiologically proven primary vesicoureteral reflux;Control:90 race-matched, healthy individuals, unrelated to the VUR patients										
137696	N	vesicoureteral reflux	OTHER	OTH	Vesico-Ureteral Reflux	22	22q13.31	UPK3	44059552	44070419		Giltay, J. C.  et al. 2004	14713856				Uroplakin 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF085808			CDC GDPinfo	7380	Hs.159330			The Journal of urology. 2004 Feb;171(2 Pt 1):931-2	No Pathogenic Mutations in the Uroplakin III Gene of 25 Patients With Primary Vesicoureteral Reflux			20125	2	2004	 Although mutations in regulatory elements affecting gene function cannot be excluded, the UPIII gene does not seem to have a major role in primary VUR in humans.	Cohort 25 patients who were surgically treated for primary vesicoureteral reflux 										
137697		vesicoureteral reflux	OTHER	OTH	Vesico-Ureteral Reflux|Genetic Predisposition to Disease	22	22q13.31	UPK3	44059552	44070419		Jiang, S.  et al. 2004	15200408				Uroplakin 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF085808			CDC GDPinfo	7380	Hs.159330			Kidney international. 2004 Jul;66(1):9-Oct	Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for diseaseheterogeneity.			23886	2	2004	 Such a weak association and the lack of families with simple dominant Mendelian inheritance suggest that missense changes of uroplakin genes cannot play a dominant role in causing VUR in humans, although they may be weak risk factors contributing to a complex polygenic disease. The fact that no truncation or frame shift mutations have been found in any of the VUR patients, coupled with our recent finding that some breeding pairs of UP III knockout mice yield litters that show not only VUR, but also severe hydronephrosis and neonatal death, raises the possibility that major uroplakin mutations could be embryonically or postnatally lethal in humans.	Case:76 patients with radiologically proven primary vesicoureteral reflux;Control:90 race-matched, healthy individuals, unrelated to the VUR patients										
137698	Y	breast cancer	CANCER	CAN	Carcinoma, Ductal|Breast Neoplasms	19	19q12-q13.1	UQCRFS1	34390006	34395954	0.005	Ohashi Y 2004	15047214				Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006003.1			KGB	7386	Hs.170107			Gynecologic oncology. 2004 Apr;93(1):54-8	Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples.		191327	6366	1	2004	 These results suggest that the UQCRFS1 gene appears to be involved in development of more aggressive phenotype of breast cancer.											
137699	Y	lipolysis	METABOLIC	MET	Obesity	1	1q22-q23	USF1	159275664	159282381		Hoffstedt, J.  et al. 2005	15985485				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3			CDC GDPinfo	7391	Hs.414880			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5356-60	Upstream transcription factor-1 gene polymorphism is associated with increased adipocyte lipolysis.		191523	14691	2	2005	 Polymorphism in the usf1 gene is associated with increased lipolytic effect of catecholamines in fat cells, which is localized at the postadrenoceptor level, possibly, at least, involving protein kinase A.											
137700	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q23	USF1	159275664	159282381		Gibson, F.  et al. 2005	16186412				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	French	France	CDC GDPinfo	7391	Hs.414880			Diabetes. 2005 Oct;54(10):3040-2	Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians.		191523	14692	2	2005												
137702		glucose tolerance; lipids; atherosclerosis, generalized	METABOLIC	MET	Arteriosclerosis	1	1q22-q23	USF1	159275664	159282381		Putt, W.  et al. 2004	15175273				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3			CDC GDPinfo	7391	Hs.414880			Human molecular genetics. 2004 Aug;13(15):1587-97	Variation in USF1 shows haplotype effects, gene :gene and gene : environment associations withglucose and lipid parameters in the European Atherosclerosis Research Study II.		191523	23887	2	2004	Thus, in these healthy young men, variation in USF1 was influencing features of both glucose and lipid	Control controls from the European Atherosclerosis Research Study II offspring study;Case atherosclerosis subjects from the European Atherosclerosis Research Study II offspring study	body mass cholesterol glucose									
137703	N	Usher syndrome	VISION	VIS	Abnormalities, Multiple|Syndrome	11	11p15.1-p14	USH1C	17472017	17522539		Ouyang, X. M.  et al. 2005	15660226				Usher syndrome 1C (autosomal recessive, severe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005709.2			CDC GDPinfo	10083	Hs.502072			Human genetics. 2005 Mar;116(4):292-9	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population		605242	26743	2	2005	The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.	Cohort Usher syndrome type I patients US and UK 										
137704	N	Usher syndrome	VISION	VIS	Abnormalities, Multiple|Syndrome	17	17q25.1	USH1G	70423770	70430946		Ouyang, X. M.  et al. 2005	15660226				Usher syndrome 1G (autosomal recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173477.2			CDC GDPinfo	124590	Hs.376688			Human genetics. 2005 Mar;116(4):292-9	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population		607696	27332	2	2005	The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.	Cohort Usher syndrome type I patients US and UK 										
137706		hearing loss/deafness; retinal disease	OTHER	OTH	Hearing Loss, Sensorineural|Retinitis Pigmentosa	1	1q41	USH2A	213862858	214663361		Aller, E.  et al. 2004	14970843				Usher syndrome 2A (autosomal recessive, mild)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007123.4		Spain	CDC GDPinfo	7399	Hs.232072			European journal of human genetics. 2004 May;12(5):407-10	Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.		608400	20128	2	2004	The comparative analysis of both phenotypic and genotypic data supports the hypothesis that sensorineural hearing loss in patients with RP may depend on the nature and on the association of the USH2A allele variants present.	Cohort 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment 										
137707		retinitis pigmentosa; Usher syndrome	VISION	VIS	Hearing Loss|Retinitis Pigmentosa|Syndrome	1	1q41	USH2A	213862858	214663361		Seyedahmadi, B. J.  et al. 2004	15325563				Usher syndrome 2A (autosomal recessive, mild)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007123.4			CDC GDPinfo	7399	Hs.232072			Experimental eye research. 2004 Aug;79(2):167-73	Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.		608400	20129	2	2004	Our results indicate that USH2A mutations are found in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene (8%) and the rhodopsin gene (10%).	Cohort 129/146 unrelated patients with Usher syndrome type II (n=129) and unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (n=146) 										
137708		infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Syndrome	X	Xq26.2	USP26	131987172	131989966		Stouffs, K.  et al. 2004	15562280				Ubiquitin specific peptidase 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031907.1			CDC GDPinfo	83844	Hs.333137			European journal of human genetics. 2005 Mar;13(3):336-40	Possible role of USP26 in patients with severely impaired spermatogenesis.		300309	20130	2	2004	These results indicate that these alterations might be involved in male infertility or might increase the risk of male infertility.	Control:142 control samples;Case:69/32 patients with Sertoli cell-only syndrome (n=69) and patients with maturation arrest (n=32)										
137709		testosterone; infertility, male; hypogonadism	METABOLIC	MET	Infertility, Male|Oligospermia|Hypogonadism|Genetic Predisposition to Disease	X	Xq26.2	USP26	131987172	131989966		Paduch, D. A.  et al. 2005	15970005				Ubiquitin specific peptidase 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031907.1			CDC GDPinfo	83844	Hs.333137			Reproductive biomedicine online. 2005 Jun;10(6):747-54	Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadism.		300309	20131	2	2005												
137710		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Sun HX 2002	12905622				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1	Chinese		Y Wang	10911	Hs.162200			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):223-7	The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China		604097	6681	1	2002	 The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.	Control:172 normal individuals;Case:192 sporadic type 2 diabetics										
137711	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Zhu, F.  et al. 2002	12509909				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1	Chinese	China	CDC GDPinfo	10911	Hs.162200			Zhonghua yi xue za zhi. 2002 Nov;82(21):1473-5	[The role of urotensin II gene in the genetic susceptibility to type 2 diabetes in Chinese population]		604097	20132	2	2002	 Urotensin II gene may contribute to the genetic susceptibility to type 2 diabetes in Han population.	Control:121 non-diabetic normal controls;Case:166/87 unrelated Chinese Han type 2 diabetic subjects (n=166) and probands from 87 families of type 2:diabetics (n=87)										
137713	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1p36	UTS2	7825729	7895881		Suzuki, S.  et al. 2004	15476949				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1	Japanese	Japan	CDC GDPinfo	10911	Hs.162200			Peptides. 2004 Oct;25(10):1803-8	Genetic variations at urotensin II and urotensin II receptor genes and risk of type 2 diabetes mellitus in Japanese.		604097	20134	2	2004	These results strongly suggest that subjects with S89N in the UTS2 gene are more insulin-resistant and thus more susceptible to type 2 diabetes mellitus development.	Control two control Japanese populations;Case:152 subjects with type 2 diabetes										
137714		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Sun, H. X.  et al. 2002	12905622				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1	Chinese		CDC GDPinfo	10911	Hs.162200			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Jun;24(3):223-7	[The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China]		604097	23888	2	2002	 The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.	Control:172 normal individuals;Case:192 sporadic type 2 diabetics										
137716		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	2	2p11.2	VAMP5	85665041	85674022		Brinkman, J. F.  et al. 2005	16110299				Vesicle-associated membrane protein 5 (myobrevin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006634.2			CDC GDPinfo	10791	Hs.172684			Molecular vision [electronic resource]. 2005 Aug;11:582-6	VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.		607029	20136	2	2005	 Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population.											
137717		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	2	2p12-p11.2	VAMP8	85658227	85662665		Brinkman, J. F.  et al. 2005	16110299				Vesicle-associated membrane protein 8 (endobrevin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003761.2			CDC GDPinfo	8673	Hs.534373			Molecular vision [electronic resource]. 2005 Aug;11:582-6	VAMP5 and VAMP8 are most likely not involved in primary open-angle glaucoma.		603177	23889	2	2005	 Our findings indicate that VAMP5 and VAMP8 are not involved in POAG in the Dutch population.											
137719		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Thrombophilia|Genetic Predisposition to Disease	1	1p32-p31	VCAM1	100957884	100977189		Taylor, J. G.  et al. 2002	12393616				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2		Jamaica	CDC GDPinfo	7412	Hs.109225			Blood. 2002 Dec;100(13):4303-9	Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease		192225	20137	2	2002	Of the 10 candidate SNPs analyzed in this pilot study, the variant allele of the non-synonymous SNP, VCAM1 G1238C, may be associated with protection from stroke (OR 0.35, 95% CI 0.15-0.83, P=0.04). Further study is required to confirm the importance of this variant in VCAM1 as a clinically useful modifier of outcome in SS disease.	Case:51 symptomatic Jamaican Sickle cell disease cases with:stroke;Control:51 matched controls										
137720		stroke; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1p32-p31	VCAM1	100957884	100977189		Hoppe, C.  et al. 2003	14615367				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDPinfo	7412	Hs.109225			Blood. 2004 Mar;103(6):2391-6	Gene interactions and stroke risk in children with sickle cell anemia.		192225	27333	2	2003	If confirmed, these results provide a basis for population screening and targeted intervention to prevent stroke in SCA.	Cohort 230 children with sickle cell anemia 										
137721		benzene toxicity	METABOLIC	MET	Hematologic Diseases|Occupational Diseases	1	1p32-p31	VCAM1	100957884	100977189		Lan, Q.  et al. 2005	16230423				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDPinfo	7412	Hs.109225			Cancer research. 2005 Oct;65(20):9574-81	Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.		192225	27668	2	2005												
137723		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1p32-p31	VCAM1	100957884	100977189		Adams, G. T.  et al. 2003	12871600				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDPinfo	7412	Hs.109225			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		192225	28556	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
137724		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Garcia-Lozano JR 2001	11251690	BB/tt genotype			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European journal of immunogenetics. 2001 Feb;28(1):89-93			601769	6369	1	2001	The mechanisms by which the VDR polymorphism is associated with RA is unknown, but they could be related to the immunoregulatory properties of vitamin D.											
137725	N	Body Weight. Bone Mineral Density. and Osteoporotic	METABOLIC	MET	Osteoporosis|Body Weight	12	12q12-q14	VDR	46521586	46585081	n	Poggi M 1999	10689545				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Tuscany. Italy		KGB	7421	Hs.524368			Disease markers. 1999 Dec;15(4):221-7			601769	6370	1	1999	No association was found between VDR gene polymorphism, bone density or body weight											
137726	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	0.017	Simmons JD 2000	10896912	tt			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Gut. 2000 Aug;47(2):211-4			601769	6371	1	2000	 This study provides preliminary evidence for a genetic association between Crohn's disease susceptibility and a gene that lies within one of the candidate regions determined by linkage analysis.											
137727	Y	Primary Biliary Cirrhosis	IMMUNE	IMM	Liver Cirrhosis, Biliary|Hepatitis, Autoimmune	12	12q12-q14	VDR	46521586	46585081	P=.009	Vogel A 2002	11786968	Bsm polymorphism			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Hepatology (Baltimore, Md). 2002 Jan;35(1):126-31			601769	6372	1	2002	This study indicates a genetic link of VDR polymorphisms to autoimmune liver diseases such as PBC and AIH in German patients											
137729	Y	calcific aortic valve stenosis	CARDIOVASCULAR	CARD	Aortic Valve Stenosis|Calcinosis	12	12q12-q14	VDR	46521586	46585081	0.001	Ortlepp JR 2001	11359741	vitamin D receptor (BsmI B/b)			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Heart (British Cardiac Society). 2001 Jun;85(6):635-8			601769	6374	1	2001	 There is a significant association of vitamin D receptor polymorphism with calcific aortic valve stenosis. The B allele of the vitamin D receptor is more common in patients with calcific aortic valve stenosis. It now needs to be evaluated whether other genes that control calcium homeostasis are involved in the pathogenesis of this disorder.											
137730	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081	0.001	Correa-Cerro L 1999	10987658	Tt genotype of the TaqI RFLP			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Human genetics. 1999 Sep;105(3):281-7			601769	6375	1	1999	The present findings with the VDR gene agree with those from North America, indicating a weak but general role of the VDR in PCA susceptibility.											
137731	Y	Grave`s disease	IMMUNE	IMM	Graves Disease	12	12q12-q14	VDR	46521586	46585081	0.023	Ban Y 2000	11134121	exon 2 initiation codon (VDR-FOK:I) polymorphism			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2000 Dec;85(12):4639-43			601769	6376	1	2000	The present results support the association of the VDR gene with GD in Japanese by showing that the VDR gene could be a non-HLA-linked gene predisposing an individual to GD. 											
137733	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	0.015	Chang TJ 2000	10792336	BsmI			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Taiwan	KGB	7421	Hs.524368			Clinical endocrinology. 2000 May;52(5):575-80			601769	6378	1	2000	 Vitamin D receptor gene polymorphisms were associated with type 1 diabetes in a Taiwanese population. However, functional studies are needed to establish the role of the vitamin D receptor in the pathogenesis of type 1 diabetes mellitus.											
137735	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	0.002	Skrabic V 2003	12482639				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Dalmatian population of South Croatia	Croatia	KEW	7421	Hs.524368			Diabetes research and clinical practice. 2003 Jan;59(1):31-5			601769	6380	1	2003		Case:134; Control:132										
137736	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Gyorffy B et al. 2002	12457456				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European journal of endocrinology. 2002 Dec;147(6):803-8	Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus.		601769	6381	1	2002	 The impact of the t allele cannot be investigated in this study population. Not a single VDR polymorphism increases the susceptibility to T1DM. The common presence of the b, a and u alleles greatly increases the probability of T1DM in girls.											
137737	Y	serum total and ionized calcium concentration	METABOLIC	MET	Hypertension	12	12q12-q14	VDR	46521586	46585081		Nakano Y et al. 2000	11199331				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):575-9	Vitamin D receptor gene polymorphism is associated with serum total and ionized calcium concentration.		601769	6382	1	2000												
137739	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Ingles SA et al. 1998	9563471				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		United States	KGB	7421	Hs.524368			Cancer research. 1998 Apr;58(8):1620-3	Association of prostate cancer with vitamin D receptor haplotypes in African-Americans.		601769	6384	1	1998												
137740	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Ingles SA et al. 1997	8998186				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of the National Cancer Institute. 1997 Jan;89(2):166-70	Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor.		601769	6385	1	1997	 In this pilot study, genetic variation in both the VDR and the AR genes was associated with prostate cancer, and both genes appear to preferentially confer risk for advanced disease. These two genetic risk factors, if confirmed, are among the strongest risk factors yet identified for prostate cancer. IMPLICATIONS: These results are consistent with a multigenic model of prostate cancer susceptibility. On the basis of the joint effect of several genetic loci, one might ultimately be able to construct a risk profile to predict advanced disease, so that men whose disease is unlikely to progress to an advanced stage can possibly be spared aggressive treatment.											
137741	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Hamasaki T et al. 2002	12599620				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Nippon rinsho Japanese journal of clinical medicine. 2002 Dec;60 Suppl 11:465-8	Association of vitamin D receptor gene polymorphism with prostate cancer		601769	6386	1	2002												
137742		osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Tofteng CL et al. 2002	12162507				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of bone and mineral research. 2002 Aug;17(8):1535-44	Two polymorphisms in the vitamin D receptor gene--association with bone mass and 5-year change in bone mass with or without hormone-replacement therapy in postmenopausal women: the Danish Osteoporosis Prevention Study.		601769	6387	1	2002												
137743	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Yanagi H et al. 1996	8923886				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 1996 Nov;81(11):4179-81	Vitamin D receptor gene polymorphisms are associated with osteoporosis in Japanese women.		601769	6388	1	1996												
137744		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q12-q14	VDR	46521586	46585081		Niino M et al. 2000	10967184				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	KGB	7421	Hs.524368			Journal of the neurological sciences. 2000 Aug;177(1):65-71	Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles.		601769	6389	1	2000												
137745	Y	renal cell carcinoma	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	12	12q12-q14	VDR	46521586	46585081		Ikuyama T et al. 2002	12402975				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			Endocrine journal. 2002 Aug;49(4):433-8	Association of vitamin D receptor gene polymorphism with renal cell carcinoma in Japanese.		601769	6390	1	2002												
137747	Y	juvenile idiopathic arthritis	IMMUNE	IMM	Osteoporosis|Arthritis, Juvenile Rheumatoid	12	12q12-q14	VDR	46521586	46585081		Masi L et al. 2002	12375338				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368	low bone mass		The Journal of rheumatology. 2002 Oct;29(10):2225-31	Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis.		601769	6392	1	2002	 Our data suggest that patients with particular VDR and CTR genotypes may be at higher risk to lose bone mass.	Case:50 patients with juvenile idiopathic arthritis;Control:80 matched controls										
137748	N	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	n	Huang CM et al. 2002	12064837				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		KGB	7421	Hs.524368			The Journal of rheumatology. 2002 Jun;29(6):1211-3	No association of vitamin D receptor gene start codon fok 1 polymorphisms in Chinese patients with systemic lupus erythematosus.		601769	6393	1	2002	 Our results suggest that the vitamin D receptor Fok I start codon polymorphism is not related to patients with SLE in Taiwan.											
137749	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Huang CM et al. 2002	11898916				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese	Taiwan	KGB	7421	Hs.524368			Lupus. 2002 ;11(1):31-4	Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus.		601769	6394	1	2002												
137751	Y	Difference in height	OTHER	OTH		12	12q12-q14	VDR	46521586	46585081		Minamitani K et al. 1998	9803441				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Pediatric research. 1998 Nov;44(5):628-32	Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene.		601769	6396	1	1998												
137752	Y	benign prostatic hyperplasia and benign prostatic enlargement	OTHER	OTH	Prostatic Hyperplasia|Hypertrophy	12	12q12-q14	VDR	46521586	46585081		Schatzl G et al. 2001	11248649				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Urology. 2001 Mar;57(3):567-72	Association of vitamin D receptor and 17 hydroxylase gene polymorphisms with benign prostatic hyperplasia and benign prostatic enlargement.		601769	6397	1	2001	 Gene polymorphisms of CYP17 and VDR have no association to prostate volume, clinical parameters, and endocrine parameters in elderly men. The association of CYP17 polymorphism and prostate histology warrants further studies. Assessment of gene polymorphisms might provide new insights into the pathogenesis of benign prostatic hyperplasia and benign prostate enlargement and may hold promise as genetic biomarkers of this disease.	Case:148 elderly men with lower urinary tract symptoms										
137753	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Hou MF et al. 2002	12150447				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Taiwan	KGB	7421	Hs.524368			Breast cancer research and treatment. 2002 Jul;74(1):7-Jan	Association of vitamin D receptor gene polymorphism with sporadic breast cancer in Taiwanese patients.		601769	6398	1	2002	 These results suggest that polymorphic variation in or near the 3' end of the VDR gene may influence breast cancer risk in Taiwanese women and justifies further investigation of the role of VDR for sporadic breast cancer in low-incidence areas. These findings also should help when designing targeted therapy.											
137754	Y	breast cancer development	CANCER	CAN	Breast Neoplasms	12	12q12-q14	VDR	46521586	46585081		Curran JE et al. 1999	10597185				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Australia	KGB	7421	Hs.524368			International journal of cancer. Journal international du cancer. 1999 Dec;83(6):723-6	Association of A vitamin D receptor polymorphism with sporadic breast cancer development.		601769	6399	1	1999												
137755	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Marc J et al. 2000	10813109				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Slovenia	KGB	7421	Hs.524368			Gynecological endocrinology. 2000 Feb;14(1):60-4	Association of vitamin D receptor gene polymorphism with bone mineral density in Slovenian postmenopausal women.		601769	6400	1	2000												
137758		bone remodeling	OTHER	OTH		12	12q12-q14	VDR	46521586	46585081		Giguere Y et al. 2000	10841176				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368	heel ultrasound and hormone replacement therapy		Journal of bone and mineral research. 2000 Jun;15(6):1076-84	The association between heel ultrasound and hormone replacement therapy is modulated by a two-locus vitamin D and estrogen receptor genotype.		601769	6403	1	2000												
137759	Y	early osteoarthritis	OTHER	OTH	Osteoporosis|Osteoarthritis|Osteoarthritis, Hip	12	12q12-q14	VDR	46521586	46585081		Keen RW et al. 1997	9259424				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Arthritis and rheumatism. 1997 Aug;40(8):1444-9	Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene.		601769	6404	1	1997	 A Taq I polymorphism of the VDR gene appears to be associated with an increased risk of knee OA. This is the first genetic locus that has been shown to influence the risk of early knee OA within the general population.											
137760	Y	bone mass	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Deng HW et al. 1998	9860300			other	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	caucasian	United States	HW	7421	Hs.524368	postmenopausal women		Human genetics. 1998 Nov;103(5):576-85	Change of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes.		601769	6405	1	1998		Case:54; Control:54										
137761	Y	bone mass	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Viitanen A et al. 1996	8781042				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Finnish		KGB	7421	Hs.524368	young Finns		Calcified tissue international. 1996 Oct;59(4):231-4	Common polymorphism of the vitamin D receptor gene is associated with variation of peak bone mass in young finns.		601769	6406	1	1996												
137763	Y	Addison's disease	IMMUNE	IMM	Addison Disease	12	12q12-q14	VDR	46521586	46585081		Pani MA et al. 2002	12444895				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European journal of endocrinology. 2002 Nov;147(5):635-40	Vitamin D receptor genotype is associated with Addison's disease.		601769	6408	1	2002	 These data suggest that the VDR genotype is associated with Addison's disease. The mechanisms by which distinct receptor variants might confer disease susceptibility remain to be elucidated.											
137764	Y	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	P = 0.03	Loke H et al. 2002	12363051	a variant at position 352 of the vitamin D receptor			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Vietnamese	Vietnam	KGB	7421	Hs.524368	Susceptibility to dengue hemorrhagic fever		The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variation in the vitamin d receptor and Fc gamma receptor IIa genes.		601769	6409	1	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
137765	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	n	Dunning AM et al. 1999	10545416				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368	risk of breast cancer		Carcinogenesis. 1999 Nov;20(11):2131-5	No association between androgen or vitamin D receptor gene polymorphisms and risk of breast cancer.		601769	6410	1	1999												
137767	Y	nephrolithiasis	METABOLIC	MET	Kidney Calculi	12	12q12-q14	VDR	46521586	46585081		Ruggiero M et al. 1999	10436404				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	hypercalciuric and nonhypercalciuric nephrolithiasis patients		KGB	7421	Hs.524368			Mineral and electrolyte metabolism. 1999 May-Jun;25(3):185-90	Association between vitamin D receptor gene polymorphism and nephrolithiasis.		601769	6412	1	1999	 The effects of VDR gene polymorphism on calcium metabolism contribute to the understanding of the pathogenesis of urinary calculi.											
137768	Y	malignant melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Hutchinson PE et al. 2000	10690530				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Clinical cancer research. 2000 Feb;6(2):498-504	Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma.		601769	6413	1	2000		Case:316; Control:108										
137769	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis, Juvenile|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Hennig BJ et al. 1999	10505806				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of periodontology. 1999 Sep;70(9):1032-8	Association of a vitamin D receptor gene polymorphism with localized early-onset periodontal diseases.		601769	6414	1	1999	 These data indicate that carriage of the less frequent allele of the Taq I RFLP (t) in the VDR gene significantly increases the risk of developing L-EOP. However, VDR genotype may not affect the incidence of all cases of EOP. These findings contribute to our understanding of the genetic basis for periodontal disease and may help define sub-groups of this disease which share common pathogenic factors.											
137770	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	12	12q12-q14	VDR	46521586	46585081		Habuchi T et al. 2000	10667581				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			Cancer research. 2000 Jan;60(2):305-8	Association of vitamin D receptor gene polymorphism with prostate cancer and benign prostatic hyperplasia in a Japanese population.		601769	6415	1	2000												
137772	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Hamasaki T et al. 2001	11789558				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			Endocrine journal. 2001 Oct;48(5):543-9	Clinical and pathological significance of vitamin D receptor gene polymorphism for prostate cancer which is associated with a higher mortality in Japanese.		601769	6417	1	2001												
137773	N	prevalence and severity of CAD	OTHER	OTH	Coronary Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	n	Ortlepp JR et al. 2003	12588283				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Germany	KGB	7421	Hs.524368			European journal of clinical investigation. 2003 Feb;33(2):106-9	Vitamin D receptor gene polymorphism BsmI is not associated with the prevalence and severity of CAD in a large-scale angiographic cohort of 3441 patients.		601769	6418	1	2003	 The VDR gene variant BsmI was not associated with prevalence and severity of CAD in a large-scale cohort phenotyped by angiography.											
137774	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Hormone-Dependent|Lymphatic Metastasis|Disease Progression	12	12q12-q14	VDR	46521586	46585081		Lundin AC et al. 1999	10344739				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Cancer research. 1999 May;59(10):2332-4	Association of breast cancer progression with a vitamin D receptor gene polymorphism. South-East Sweden Breast Cancer Group.		601769	6419	1	1999	We conclude that  polymorphism in the VDR gene may influence tumor progression and tamoxifen treatment response in early-onset breast carcinomas.											
137775	Y	bone metastases	METABOLIC	MET	Bone Neoplasms|Breast Neoplasms	12	12q12-q14	VDR	46521586	46585081		Schondorf T et al. 2003	12566913				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Oncology. 2003 ;64(2):154-9	Association of the vitamin D receptor genotype with bone metastases in breast cancer patients.		601769	6420	1	2003												
137777	N	osteoporosis	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081	n	Lim SK et al. 1995	8530619				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean	Korea	KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 1995 Dec;80(12):3677-81	Lack of association between vitamin D receptor genotypes and osteoporosis in Koreans.		601769	6422	1	1995												
137778	N	osteoarthritis	AGING	AGE	Osteoarthritis, Hip	12	12q12-q14	VDR	46521586	46585081	n	Aerssens J et al. 1998	9811048				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	postmenopausal women	Belgium	KGB	7421	Hs.524368			Arthritis and rheumatism. 1998 Nov;41(11):1946-50	Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR COL1A1 and COL2A1 in postmenopausal women.		601769	6423	1	1998	 In Belgian postmenopausal women, the examined polymorphisms of the candidate genes VDR, COL1A1, and COL2A1 do not significantly contribute to an increased prevalence of OAH or to differences in BMD.											
137779	Y	breast cancer risk	CANCER	CAN	Breast Neoplasms	12	12q12-q14	VDR	46521586	46585081		Bretherton-Watt D et al. 2001	11461072				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	caucasian	Great Britain	KGB	7421	Hs.524368			British journal of cancer. 2001 Jul;85(2):171-5	Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population.		601769	6424	1	2001												
137780	Y	sex-dependent growth	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Suarez F et al. 1997	9284728	Bb and bb			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 1997 Sep;82(9):2966-70	Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life.		601769	6425	1	1997												
137781	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Ongphiphadhanakul B et al. 1997	9438916				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	postmenopausal women		KGB	7421	Hs.524368			Journal of endocrinological investigation. 1997 Nov;20(10):592-6	Vitamin D receptor gene polymorphism is associated with urinary calcium excretion but not with bone mineral density in postmenopausal women.		601769	6426	1	1997	We conclude that  VDR genotype distributions in Thai postmenopausal women are different from those reported in Caucasians. VDR gene polymorphism does not appear to be associated with BMD or bone turnover in Thai postmenopausal women. However, Bsm I VDR polymorphism may have physiologic role in calcium homeostatasis by modulating intestinal calcium absorption.											
137783	N	psoriasis	IMMUNE	IMM	Psoriasis	12	12q12-q14	VDR	46521586	46585081	n	Lee DY et al. 2002	12071154				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean	Korea	KGB	7421	Hs.524368			Archives of dermatological research. 2002 Mar;294(2-Jan):5-Jan	Vitamin D receptor genotypes are not associated with clinical response to calcipotriol in Korean psoriasis patients.		601769	6428	1	2002												
137784	Y	metastatic breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Recurrence	12	12q12-q14	VDR	46521586	46585081		Ruggiero M et al. 1998	9613456				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Oncology research. 1998 ;10(1):43-6	Vitamin D receptor gene polymorphism is associated with metastatic breast cancer.		601769	6429	1	1998												
137785	Y	hyperthyroidism	OTHER	OTH	Bone Diseases, Metabolic|Osteoporosis|Hyperthyroidism	12	12q12-q14	VDR	46521586	46585081		Obermayer-Pietsch BM et al. 2000	11028447				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368	low bone density		Journal of bone and mineral research. 2000 Oct;15(10):1950-5	Association of the vitamin D receptor genotype BB with low bone density in hyperthyroidism.		601769	6430	1	2000												
137786	Y	pulmonary tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Selvaraj P et al. 2000	10943070				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Indian journal of medical research. 2000 May;111:172-9	Association of vitamin D receptor genotypes with the susceptibility to pulmonary tuberculosis in female patients & resistance in female contacts.		601769	6431	1	2000												
137787	N	calcium oxalate stone formation	OTHER	OTH	Urinary Calculi	12	12q12-q14	VDR	46521586	46585081	n	Chen WC et al. 2001	11689145				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Taiwan	KGB	7421	Hs.524368			Molecular urology. 2001 ;5(1):10-Jul	No association of vitamin D receptor gene BsmI polymorphisms with calcium oxalate stone formation.		601769	6432	1	2001	 The results revealed no significant difference between normal individuals and stone patients (P = 0.891). The allelic distribution of B and b were similar within both the normal group and the stone patients. Therefore, the BsmI polymorphism of the VDR gene at intron 8 is not a suitable genetic marker for urinary stone disease.											
137789	Y	leisure physical activity	METABOLIC	MET	Body Weight	12	12q12-q14	VDR	46521586	46585081	P = 0.04	Blanchet C et al. 2002	11782643	bb vs BB			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	healthy postmenopausal women		KGB	7421	Hs.524368			Medicine and science in sports and exercise. 2002 Jan;34(1):24-31	Association of physical activity and bone: influence of vitamin D receptor genotype.		601769	6434	1	2002	 These results suggested that gene-environment interactions such as leisure physical activity and VDR genotype may play a role in maintaining the BMD at the lumbar spine in active postmenopausal women, especially in older active women.	Case:575										
137790	Y	calcium oxalate stone disease	OTHER	OTH	Urinary Calculi	12	12q12-q14	VDR	46521586	46585081		Chen WC et al. 2001	11167636				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			BJU international. 2001 Feb;87(3):168-71	Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease.		601769	6436	1	2001	 These results suggest that the VDR Fok I start codon polymorphism may be a good candidate for a genetic marker in calcium oxalate stone disease.											
137792	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Choi YM et al. 2000	11043509				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean		KGB	7421	Hs.524368			Journal of human genetics. 2000 ;45(5):280-3	Association of the vitamin D receptor start codon polymorphism (FokI) with bone mineral density in postmenopausal Korean women.		601769	6439	1	2000												
137793		idiopathic osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Loughlin J et al. 2000	10743824				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of rheumatology. 2000 Mar;27(3):779-84	Association analysis of the vitamin D receptor gene the type I collagen gene COL1A1 and the estrogen receptor gene in idiopathic osteoarthritis.		601769	6440	1	2000	 If the VDR, ER, or COL1A1 genes do encode predisposition to OA then the 4 SNP tested are not associated with major susceptibility alleles at these 3 loci.	Case:371; Control:369										
137794	Y	tuberculosis	INFECTION	INF	Tuberculosis|Vitamin D Deficiency	12	12q12-q14	VDR	46521586	46585081	0.008	Wilkinson RJ 2000	10696983	genotype TT/Tt and Vit D deficiency			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		India|London	KGB	7421	Hs.524368			Lancet. 2000 Feb;355(9204):618-21			601769	6441	1	2000												
137795	Y	Autoimmune Hepatitis	IMMUNE	IMM	Liver Cirrhosis, Biliary|Hepatitis, Autoimmune	12	12q12-q14	VDR	46521586	46585081	P=0.008	Vogel A 2002	11786968	Fok polymorphism			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Hepatology (Baltimore, Md). 2002 Jan;35(1):126-31			601769	6442	1	2002												
137796	Y	chronic renal failure.	RENAL	REN	Kidney Failure, Chronic|Hypoparathyroidism	12	12q12-q14	VDR	46521586	46585081		Fernandez E et al. 1997	9335382				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of the American Society of Nephrology. 1997 Oct;8(10):1546-52	Association between vitamin D receptor gene polymorphism and relative hypoparathyroidism in patients with chronic renal failure.		601769	6443	1	1997												
137797	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Murakami F et al. 1998	9760828				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Rinsho byori The Japanese journal of clinical pathology. 1998 Aug;46(8):766-73	Association of bone mineral density with vitamin D receptor gene polymorphism--changes in radial bone mineral density with long-term follow-up: longitudinal study		601769	6444	1	1998												
137799		Osteoarthritis	METABOLIC	MET	Osteoarthritis	12	12q12-q14	VDR	46521586	46585081		Baldwin CT et al. 2002	11824954				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of rheumatology. 2002 Jan;29(1):161-5	Absence of linkage or association for osteoarthritis with the vitamin D receptor/type II collagen locus: the Framingham Osteoarthritis Study.		601769	6446	1	2002	 Despite studies suggesting associations of OA with both COL2A1 and VDR loci, our results suggest that mutations at the COL2A1/VDR locus do not play an important role as a cause of common OA in the population at large.											
137800	Y	leprosy type	INFECTION	INF	Leprosy|Leprosy, Lepromatous|Leprosy, Tuberculoid	12	12q12-q14	VDR	46521586	46585081		Roy S et al. 1999	9841838				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		India	KGB	7421	Hs.524368			The Journal of infectious diseases. 1999 Jan;179(1):187-91	Association of vitamin D receptor genotype with leprosy type.		601769	6447	1	1999												
137802	Y	prostate cancer	CANCER	CAN	Breast Neoplasms|Skin Neoplasms|Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Taylor JA et al. 1996	8797574				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		United States	KGB	7421	Hs.524368			Cancer research. 1996 Sep;56(18):4108-10	Association of prostate cancer with vitamin D receptor gene polymorphism.		601769	6449	1	1996												
137803	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Gross C et al. 1996	8970885				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of bone and mineral research. 1996 Dec;11(12):1850-5	The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women.		601769	6450	1	1996	We conclude that  the FokI polymorphism of the VDR gene correlates significantly with decreased BMD at the lumbar spine and with an increased rate of bone loss at the hip in ff subjects. We emphasize that these initial data should be interpreted with caution but that the utility of this polymorphism as a genetic marker to determine BMD and osteoporosis risk warrants further study in larger populations with subjects of diverse ethnic backgrounds.											
137804	Y	Progression to AIDS	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|HIV Seropositivity|Substance Abuse, Intravenous|Disease Progression	12	12q12-q14	VDR	46521586	46585081	0,009	Barber Y 2001	11679916		mRNA stability (?)	3'untranslated	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian		Joan Fibla	7421	Hs.524368	A more rapid disease progression was associated with the VDR-BB genotype		The Journal of infectious diseases. 2001 Nov;184(10):1279-88	Host genetic background at CCR5 chemokine receptor and vitamin D receptor loci and human immunodeficiency virus (HIV) type 1 disease progression among HIV-seropositive injection drug users		601769	6451	1	2001		Case:185; Control:120										
137806	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Acute Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Motohashi Y et al. 2003	12843155				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	Y Wang	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3137-40	Vitamin D receptor gene polymorphism affects onset pattern of type 1 diabetes		601769	6453	1	2003												
137807	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081	0.023	Zhang et al, 2003	12927786	AC		coding sequence	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		HW	7421	Hs.524368	bone mineral density		Biochemical and biophysical research communications. 2003 Sep;308(4):777-83	Estrogen receptor alpha and vitamin D receptor gene polymorphisms and bone mineral density: association study of healthy pre- and postmenopausal Chinese women.		601769	6454	1	2003												
137808	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q12-q14	VDR	46521586	46585081		Guja C et al. 2002	12003670				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Romanian	Romania	Y Wang	7421	Hs.524368			Journal of cellular and molecular medicine. 2002 Jan-Mar;6(1):75-81	The study of CTLA-4 and vitamin D receptor polymorphisms in the Romanian type 1 diabetes population		601769	6455	1	2002												
137810		blood lead concentration in children.	OTHER	OTH	Lead Poisoning|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Haynes EN 2003	14527848				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Environmental health perspectives. 2003 Oct;111(13):1665-9	Vitamin D receptor Fok1 polymorphism and blood lead concentration in children.		601769	6457	1	2003												
137811		Amyotrophic Lateral Sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Kamel F 2003	12896855				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Environmental health perspectives. 2003 Aug;111(10):1335-9	Amyotrophic lateral sclerosis, lead~~~ and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes.		601769	6458	1	2003	These findings suggest that genetic susceptibility conferred by polymorphisms in (italic)ALAD(/italic) may affect ALS risk, possibly through a mechanism related to internal lead exposure.	Case amyotrophic lateral sclerosis cases:1993-1996;Control:controls										
137812	Y	bone mineral density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Yamada Y 2003	12843190				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3372-8	Association of polymorphisms of interleukin-6, osteocalcin~~~ and vitamin D receptor genes~~~ alone or in combination~~~ with bone mineral density in community-dwelling Japanese women and men.		601769	6459	1	2003	These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.	Cohort Japanese women and men aged 40-79 yr										
137814	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Douroudis K 2003	12818464				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Maturitas. 2003 Jul;45(3):191-7	Association of vitamin D receptor gene polymorphisms with bone mineral density in postmenopausal women of Hellenic origin.		601769	6461	1	2003	 Our analysis reveals a significant association between VDR gene alleles and bone mass in the population studied.											
137815		calcium nephrolithiasis	OTHER	OTH	Kidney Calculi|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Ozkaya O 2003	12814692				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European urology. 2003 Jul;44(1):150-4	Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children.		601769	6462	1	2003	 VDR genotype determination may provide a tool to identify individuals who are at a risk for calcium nephrolithiasis.											
137816		normal variation	NORMALVARIATION	NV		12	12q12-q14	VDR	46521586	46585081		Willing MC 2003	12879219				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368	young children		Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study.		601769	6463	1	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study										
137817		colorectal adenomas	CANCER	CAN	Adenoma|Colorectal Neoplasms	12	12q12-q14	VDR	46521586	46585081		Grau MV 2003	14652238				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of the National Cancer Institute. 2003 Dec;95(23):1765-71	Vitamin D, calcium supplementation~~~ and colorectal adenomas: results of a randomized trial.		601769	6464	1	2003	 Calcium supplementation and vitamin D status appear to act largely together, not separately, to reduce the risk of colorectal adenoma recurrence. VDR genotype does not appear to be associated with risk.											
137818	Y	bone mass	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Kim JG 2003	14634546				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean		KGB	7421	Hs.524368			American journal of obstetrics and gynecology. 2003 Nov;189(5):1234-40	Association between vitamin D receptor gene haplotypes and bone mass in postmenopausal Korean women.		601769	6465	1	2003	 The VDR baTL haplotype allele is related to bone mass in Korean women.											
137820		height in children	CANCER	CAN	Bone Neoplasms|Body Weight	12	12q12-q14	VDR	46521586	46585081		Ruza E 2003	14528100				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of pediatric hematology/oncology. 2003 Oct;25(10):780-6	Analysis of polymorphisms of the vitamin D receptor, estrogen receptor~~~ and collagen Ialpha1 genes and their relationship with height in children with bone cancer.		601769	6467	1	2003	 Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene.	Control standards published for Spanish reference children according to sex and age;Case:58/36 osteosarcoma (n=58) and Ewing sarcoma (n=36):patients										
137821		vertebral fracture	OTHER	OTH	Osteoporosis|Spinal Fractures	12	12q12-q14	VDR	46521586	46585081		Colin EM 2003	12915669				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2003 Aug;88(8):3777-84	Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk.		601769	6468	1	2003												
137823		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Disease Susceptibility	12	12q12-q14	VDR	46521586	46585081		Bodiwala D 2004	14991752				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Environmental and molecular mutagenesis. 2004 ;43(2):121-7	Polymorphisms in the vitamin D receptor gene, ultraviolet radiation, and susceptibility to prostate cancer.		601769	6470	1	2004												
137824		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q12-q14	VDR	46521586	46585081		Boucher BJ 2002	12370862				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			Y Wang	7421	Hs.524368			Metabolism:  clinical and experimental. 2002 Oct;51(10):1375; author reply 1375	Association between vitamin D receptor (VDR) polymorphism and type 2 diabetes.		601769	6471	1	2002												
137825		Body Weight	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Grundberg E 2004	15012617				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European journal of endocrinology. 2004 Mar;150(3):323-8	Genetic variation in the human vitamin D receptor is associated with muscle strength, fat mass and body weight in Swedish women.		601769	6472	1	2004	 Genetic variation in the VDR is correlated with muscle strength, fat mass and body weight in premenopausal women. Further functional studies on the poly A microsatellite are needed to elucidate whether this is the functionally relevant locus or if the polymorphism is in linkage disequilibrium with a functional variant in a closely situated gene further downstream of the VDR 3'UTR.											
137826		quantitative calcaneal ultrasound	OTHER	OTH		12	12q12-q14	VDR	46521586	46585081		Koh JM 2004	14725686				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Clinical endocrinology. 2004 Feb;60(2):232-40	Oestrogen receptor alpha genotype, and interactions between vitamin D receptor and transforming growth factor-beta1 genotypes are associated with quantitative calcaneal ultrasound in postmenopausal women.		601769	6473	1	2004	 This study indicates that the XbaI polymorphism of ERalpha gene may influence the Quantitative ultrasound parameters in postmenopausal women, and suggests the need for further investigations about the interactions between the VDR and TGF-beta1 genes.											
137828		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	12	12q12-q14	VDR	46521586	46585081		McDermott MF 2004	9267994				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Indian Asians	India	Y Wang	7421	Hs.524368			Diabetologia. 1997 Aug;40(8):971-5	Allelic variation in the vitamin D receptor influences susceptibility to IDDM in Indian Asians		601769	6475	1	2004												
137830		systemic lupus erythematosus	IMMUNE	IMM	Nephrotic Syndrome|Proteinuria|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Ozaki Y 2000	10773761				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	Y Wang	7421	Hs.524368			Nephron. 2000 May;85(1):86-91	Vitamin-D receptor genotype and renal disorder in Japanese patients with systemic lupus erythematosus.		601769	6477	1	2000	 These findings suggest that the BB genotype might trigger the development of SLE, and that the bb genotype is associated with lupus nephritis.											
137831	Y	fat-free mass and sarcopenia	AGING	AGE		12	12q12-q14	VDR	46521586	46585081		Roth SM 2004	14718481			coding sequence	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	older caucasian men		KGB	7421	Hs.524368			The journals of gerontology Series A, Biological sciences and medical sciences. 2004 Jan;59(1):5-Oct	Vitamin D receptor genotype is associated with fat-free mass and sarcopenia in elderly men.		601769	6478	1	2004												
137832	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Kurabayashi T et al. 1999	10329864				vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese		KGB	7421	Hs.524368			American journal of obstetrics and gynecology. 1999 May;180(5):1115-20	Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women.		601769	6479	1	1999	 Taq I polymorphism of the vitamin D receptor gene is associated with the effect of hormone replacement therapy on lumbar-spinal bone mineral density and bone resorption markers in Japanese women. Analysis of the vitamin D receptor alleles may prove useful for selection of the optimum therapy for osteoporosis management.											
137833		urinary infection	INFECTION	INF	Urinary Tract Infections|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Garcia Nieto, V.  et al. 2002	12369133				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Spain	CDC GDPinfo	7421	Hs.524368			Nefrologia. 2002 ;22(4):390-1	[Vitamin D receptor polymorphisms and susceptibility to developing urinary infection in children diagnosed with idiopathic hypercalciuria]		601769	14705	2	2002	En resumen, aunque cada vez existe mas evidencia de la predisposicion genetica a padacer infeccion urinaria, los polimorfismos del receptor de la vitamina D no parecen tener una influencia notable en dicha predisposicion, al menos en ninos afectos de HI.	Cohort 103 children diagnosed with idiopathic hypercalciuria 										
137834		bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Zhang, Z.  et al. 2003	12579489				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):8-May	[Association of polymorphisms of vitamin D receptor gene start codon and 3'-end region with bone mineral density in postmenopausl women]		601769	14708	2	2003	 Although Fok I polymorphisms of VDR gene were not significantly associated with BMD in postmenopausal women, VDR gene Fok I and 3'-region polymorphisms (Apa I and Taq I) had a combined effect on the BMD in postmenopausal women.	Cohort 110 unrelated postmenopausal women 										
137835	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Chen, J.  et al. 2003	12673591				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		CDC GDPinfo	7421	Hs.524368			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):167-8	[Studies on the relationship between vitamin D receptor gene polymorphism and osteoporosis in postmenopausal women]		601769	14709	2	2003	 Significant association between VDR genotype and osteoporosis in Chinese women was observed in this study.	Control:21 healthy postmenopausal women;Case:40 patients with osteoporosis										
137836		blood pressure, arterial	CARDIOVASCULAR	CARD		12	12q12-q14	VDR	46521586	46585081		Muray, S.  et al. 2003	12778851				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Nefrologia. 2003 ;23 Suppl 2:32-6	[Influence of the vitamin D receptor gene polymorphism and 25-hydroxyvitamin D on arterial pressure in health individuals]		601769	14710	2	2003	 Healthy men with higher levels of vitamin D have higher levels of SBP and DBP. Moreover, men with bb genotype have the highest levels of SBP. Blood pressure levels in women are not influenced by vitamin D nor by Bsml genotype. Our data suggest a possible pathophysiological interaction between vitamin D and sex hormones in blood pressure control.	Cohort 590 healthy individuals 										
137837	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Liu, W.  et al. 2003	12820934				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		CDC GDPinfo	7421	Hs.524368			Zhonghua liu xing bing xue za zhi. 2003 May;24(5):389-92	[A case-control study on the vitamin D receptor gene polymorphisms and susceptibility to pulmonary tuberculosis]		601769	14711	2	2003	 The VDR-ff genotype might be associated with the susceptibility to pulmonary tuberculosis in Chinese Han population.	Control:171:controls;Case:76 Chinese Han pulmonary tuberculosis patients	smoking (tobacco)									
137838		osteoporosis	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Li, J.  et al. 2003	12903041				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):315-7	[Study on the distribution of vitamin D receptor gene start codon polymorphism in the Achangs and Hans]		601769	14714	2	2003	 The Achang and Han ethnic groups differ in the frequency distribution of VDR gene start codon polymorphism.	Cohort 68/92 Achangs (n=68) and the Hans (n=92) China 										
137839	Y	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Huang, Q. R.  et al. 2003	12905734				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2003 Jun;25(3):254-7	[Association of Apa I polymorphism of vitamin D receptor gene with bone mass in men]		601769	14715	2	2003	 Apa I polymorphism is associated with bone mass in men above 60 years, and AA genotype has higher bone mass. Apa I polymorphism in VDR gene possibly influence loss of trabecular and cortical bone mass in old men.	Cohort 388 unrelated healthy men of Han nationality Shanghai city, China 										
137840		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Liu, J. H.  et al. 2003	14574802				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese	China	CDC GDPinfo	7421	Hs.524368			Zhonghua nan ke xue. 2003 Sep;9(6):413-6	[Vitamin D receptor gene Bsm I polymorphism and the susceptibility to prostate cancer in northern Chinese Han population]		601769	14717	2	2003	 The results indicate no significant relationship between the VDRG polymorphisms and PCa in Northern Chinese Han population. The distribution of VDRG Bsm I SNP varies in different ethnic populations, which may be one reason for the racial difference of PCa.	Case:103 patients with prostate cancer, mainly from Northern Chinese Han population;Control:106 normal controls										
137841		bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Zajickova, K.  et al. 2003	14584884				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of bone and mineral research. 2003 Oct;18(10):1754-7	A single nucleotide polymorphism under the reverse primer binding site may lead to BsmI mis-genotyping in the vitamin D receptor gene.		601769	14718	2	2003	 The SNP in the region corresponding to the reverse primer may lead to BsmI mis-genotyping, which may have confounded some previous genetic studies.	Cohort 165 peri- and postmenopausal women of white origin 										
137842		cirrhosis, biliary primary; liver disease	OTHER	OTH	Liver Cirrhosis, Biliary|Liver Diseases|Autoimmune Diseases	12	12q12-q14	VDR	46521586	46585081		Fan, L. Y.  et al. 2003	14642064				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		CDC GDPinfo	7421	Hs.524368			Zhonghua yi xue za zhi. 2003 Nov;83(21):1852-5	[Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune liver diseases on Chinese]		601769	14719	2	2003	 There is a significant association between FokI polymorphism and AIH and a significant association between the BsmI polymorphisms and PBC in Chinese.	Control:160 healthy controls;Case:49/58 Chinese autoimmune liver disease (n=49) and primary biliary cirrhosis (n=58) patients										
137843	Y	lead toxicity	METABOLIC	MET	Lead Poisoning|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Shi, K. L.  et al. 2003	14731356				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian		CDC GDPinfo	7421	Hs.524368			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Oct;41(10):751-4	[Association between vitamin D receptor gene polymorphism and the susceptibility of children to lead]		601769	14720	2	2003	 These results indicated that the frequency distribution of the VDR genotype in these children was apparently different from that in Caucasians who had high frequencies of VDR B. The results also indicated that the individuals carrying the VDR B allele were more susceptible to lead poisoning.	Cohort 120 pre-school children aged 5 - 6 years who were from the mine kindergarten and were unrelated Hans 	lead									
137844	Y	rickets	INFECTION	INF	Rickets|Vitamin D Deficiency	12	12q12-q14	VDR	46521586	46585081		Lu, H. J.  et al. 2003	14746673				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Jul;41(7):493-6	[Association of the vitamin D receptor gene start codon polymorphism with vitamin D deficiency rickets]		601769	14721	2	2003	 There is an association between VDR gene start codon polymorphism and vitamin D deficiency rickets. This study suggested the possibility that VDR gene polymorphism might be important in determining an individual's susceptibility to development of vitamin D deficiency rickets.	Case:48 children with active vitamin D deficiency rickets which was diagnosed clinically and confirmed:radiologically;Control:92 normal children										
137845		zinc; lead toxicity; height; weight	METABOLIC	MET	Body Weight	12	12q12-q14	VDR	46521586	46585081		Leng, S.  et al. 2003	14963917				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Wei sheng yan jiu. 2003 Nov;32(6):610-2	[Associations of Bsm1 polymorphism of the vitamin D receptor gene and blood lead, zinc protoporphyrin, and physical development in 476 environmental lead-exposed children]		601769	14722	2	2003	No significant influence of Bsm1 polymorphism on blood lead level, zinc protoporphyrin, height and weight was found, suggesting that the Bsm1 polymorphism of VDR gene may modify the effect of lead on the skull development of children highly exposed to lead.	Cohort 476 environmental lead-exposed children 	lead									
137846	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Halsall, J. A.  et al. 2004	15238985			promoter	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			British journal of cancer. 2004 Aug;91(4):765-70	A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.		601769	14724	2	2004	There was an interaction between the A-1012G and Fok 1 polymorphisms (P=0.025) and the Fok 1 variant enhanced the effect of the A allele of the A-1012G polymorphism on metastasis, the probability of metastasis for AAff at 5 years follow-up being 57%, CI 24-92%.	Case:176 malignant melanoma cases;Control:80:controls										
137847	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Yang, Y.  et al. 2004	15267201				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		China	CDC GDPinfo	7421	Hs.524368			Zhonghua nan ke xue. 2004 Jun;10(6):411-4	[Association of single nucleotide polymorphism of vitamin D receptor gene start codon and the susceptibility to prostate cancer in the Han nationality in Hubei area]		601769	14725	2	2004	 The results indicated no significant relationship between Fok I polymorphism of VDR gene start codon and PCa in the Han nationality in Hubei area.	Case:80 Chinese Han patients with prostate cancer Hubei area, China;Control:96 normal male controls										
137848	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q12-q14	VDR	46521586	46585081		Marti, G.  et al. 2004	15373974				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Spanish	Spain	CDC GDPinfo	7421	Hs.524368			Med Clin (Barc). 2004 Sep;123(8):286-90	[Association of vitamin D receptor gene polymorphism with type 1 diabetes mellitus in two Spanish populations]		601769	14726	2	2004	 Combined genotypes for vitamin D receptor gene polymorphisms at intron 8 and exon 2 suggest that the more active form of vitamin D receptor gene (FF genotype) can be increased in Mediterranean diabetic patients whereas the less active form (ff genotype) can be decreased in those from Navarre. Our results suggest that, in both groups, the F allele of exon 2 VDR gene polymorphism may increase type 1 diabetes susceptibility.	Control:116 controls from Navarre;Case:155 patients with childhood-onset type 1 diabetes:Barcelona, Spain;Control:280 healthy controls from Barcelona;Case:89 type 1 diabetics from Navarre:Navarre, Spain										
137849		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Seremak-Mrozikiewicz, A.  et al. 2004	15524410				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Ginekologia polska. 2004 May;75(5):367-72	[Vitamin D receptor polymorphism in the group of postmenopausal women with low bone mineral density]		601769	14728	2	2004	 Our observations could suggest the important role of B allele of the VDR gene in the pathogenesis of osteoporosis in the group of women with low mineral density and possible protective role of b allele in this disease.	Cohort 34 postmenopausal women 										
137850	Y	periodontitis	IMMUNE	IMM		12	12q12-q14	VDR	46521586	46585081		Zhang, J. C.  et al. 2005	15774153				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua kou qiang yi xue za zhi. 2005 Jan;40(1):50-3	[Association of vitamin D receptor gene polymorphisms with the susceptibility to chronic periodontitis of Han nationality]		601769	14731	2	2005	 These data indicate that VDR ApaI allele A may be related to the susceptibility to CP in Han Nationality.	Case:166 patients with servere, moderate, and mild chronic:periodontitis;Control:80 matched control individuals										
137852	Y	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Grundberg, E.  et al. 2003	12958689				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Swedish		CDC GDPinfo	7421	Hs.524368			Calcified tissue international. 2003 Nov;73(5):455-62	A poly adenosine repeat in the human vitamin D receptor gene is associated with bone mineral density in young Swedish women.		601769	20144	2	2003	In conclusion, genetic variation in the VDR is associated with BMD in premenopausal women, and further studies are needed to evaluate a possible functional role of the VDR 3'UTR poly A repeat, a region that has shown to be of important for mRNA stability.	Cohort 343 Swedish women Sweden 										
137853		osteoporosis, postmenopausal; osteopenia	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Borjas-Fajardo, L.  et al. 2003	14727381				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Venezuela	CDC GDPinfo	7421	Hs.524368			Invest Clin. 2003 Dec;44(4):275-82	[In Process Citation]		601769	20146	2	2003	The BB genotype was found in 52% of the group with osteoporosis, and in 20% of the control group, these findings are statistically significant, which suggest an association between the BB genotype and osteoporosis.	Case:54/24 postmenopausal women with osteoporosis (n=54) and:ostopenia (n=24);Control:55 nromal controls										
137854		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12q12-q14	VDR	46521586	46585081		Lee, B. K.  et al. 2001	11335187				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Environmental health perspectives. 2001 Apr;109(4):383-9	Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and delta-aminolevulinic acid dehydratase genes.		601769	23890	2	2001	We speculate that the BsmI polymorphism may be in linkage disequilibrium with another functional variant at the VDR locus or with a nearby gene.	Control:135 controls without occupational exposure to lead;Case:798 Korean lead workers:Korea	lead									
137855		hematopoietic outcomes, lead exposure related; lead	HEMATOLOGICAL	HEM		12	12q12-q14	VDR	46521586	46585081		Lee, S. S.  et al. 2001	11800328				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean		CDC GDPinfo	7421	Hs.524368			Scandinavian journal of work, environment & health. 2001 Dec;27(6):402-11	Associations of lead biomarkers and delta-aminolevulinic acid dehydratase and vitamin D receptor genotypes with hematopoietic outcomes in Korean lead workers.		601769	23891	2	2001	 Lead must have a chronic, cumulative effect on hemoglobin and hematocrit levels, and any speculated mechanism cannot merely involve short-term plasma or target organ lead levels.	Cohort 933 individuals (798 lead workers and 135 unexposed referents) 	lead									
137856		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Kamel, F.  et al. 2003	12896855				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Environmental health perspectives. 2003 Aug;111(10):1335-9	Amyotrophic Lateral Sclerosis, Lead, and Genetic Susceptibility: Polymorphisms in thedelta-Aminolevulinic Acid Dehydratase and Vitamin D Receptor Genes		601769	23892	2	2003	These findings suggest that genetic susceptibility conferred by polymorphisms in (italic)ALAD(/italic) may affect ALS risk, possibly through a mechanism related to internal lead exposure.	Case amyotrophic lateral sclerosis cases:1993-1996;Control:controls										
137857		body mass; bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Nakamura, M.  et al. 2001	11353946				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese		CDC GDPinfo	7421	Hs.524368			Calcified tissue international. 2001 Apr;68(4):211-5	Calcitonin receptor gene polymorphism in japanese women: correlation with body mass and bone mineraldensity.		601769	23893	2	2001	In combined analysis of the VDR genotype (B,b) and the CTR genotype (C,T), the body height was found to be significantly different between CCB and others (P = 0.0236). In addition, analysis of the CTR genotypic frequency using 64 blood samples from Japanese and 47 blood samples from Caucasians indicated that there was a significant difference between the two races	Cohort 152 healthy women aged 16-43 Japan 										
137858	Y	arthritis, juvenile	IMMUNE	IMM	Osteoporosis|Arthritis, Juvenile Rheumatoid	12	12q12-q14	VDR	46521586	46585081		Masi, L.  et al. 2002	12375338				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			The Journal of rheumatology. 2002 Oct;29(10):2225-31	Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis		601769	23894	2	2002	 Our data suggest that patients with particular VDR and CTR genotypes may be at higher risk to lose bone mass.	Case:50 patients with juvenile idiopathic arthritis;Control:80 matched controls										
137859	Y	kidney stone disease	RENAL	REN	Kidney Calculi|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Bid, H. K.  et al. 2005	15856322				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Pediatric nephrology (Berlin, Germany). 2005 Jun;20(6):773-6	Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis.		601769	23895	2	2005	Our results suggest that the effects of VDR (Fok-I) and CTR gene polymorphism contribute to the understanding of the pathogenesis of urinary calculi. It is also suggestive of a potential candidate gene in the search for genetic causes of paediatric calcium oxalate nephrolithiasis.	Case:50 pediatric patients (age 2-14) with kidney stones;Control:60 healthy pediatric individuals (age 4-16)										
137860	N	bone density	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Eckstein, M.  et al. 2002	12040821				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Jewish		CDC GDPinfo	7421	Hs.524368			The Israel Medical Association journal. 2002 May;4(5):340-4	Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density.		601769	23896	2	2002	 In Israeli Jewish men and premenopausal women VDR gene alleles do not seem to be associated with lower lumbar spine or femoral neck BMD. A trend towards heterozygosity for a CaSR polymorphism missense mutation was noted in the LBMD patients. Age at menarche in the LBMD women was found to be an important predictor of BMD. A significant difference was found between LBMD women and healthy control women towards heterozygosity for a CaSR polymorphism, as well as between homozygotes and heterozygotes for a CaSR polymorphism in BMD. The significance of these findings and their applicability to a larger population awaits further studies.	Control:248 men (n=126) and women (n=112) from the general:population;Case:86 Jewish Israeli patients with idiopathic low bone										
137861	N	bone mass	METABOLIC	MET	Liver Cirrhosis, Biliary	12	12q12-q14	VDR	46521586	46585081		Pares, A.  et al. 2001	11230734				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Hepatology (Baltimore, Md). 2001 Mar;33(3):554-60	Collagen type Ialpha1 and vitamin D receptor gene polymorphisms and bone mass in primary biliary cirrhosis.		601769	23897	2	2001	In conclusion, the COLIA1 but not VDR polymorphism is a genetic marker of peak bone mass in patients with PBC, although the severity of cholestasis is the main factor for osteoporosis since it is associated with the rate of bone loss.	Cohort 61 women with primary biliary cirrhosis (age, 54.1 =/- 1.1 years) 										
137862		osteoarthritis; hip dysplasia	AGING	AGE	Osteoarthritis, Hip|Hip Dislocation, Congenital|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Granchi, D.  et al. 2002	12360016				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Clinical orthopaedics and related research. 2002 Oct;(403):108-17	Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia.		601769	23898	2	2002	These results indicate that genetic markers could contribute to the understanding of the natural history of this disease.	Case:143 patients having a total hip replacement for idiopathic osteoarthritis or osteoarthritis secondary to developmental hip dysplasia										
137863	N	prostate volume/histology endocrine patterns	METABOLIC	MET	Prostatic Hyperplasia|Hypertrophy	12	12q12-q14	VDR	46521586	46585081		Schatzl, G.  et al. 2001	11248649				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Urology. 2001 Mar;57(3):567-72	Association of vitamin D receptor and 17 hydroxylase gene polymorphisms with benign prostatic hyperplasia and benign prostatic enlargement.		601769	23899	2	2001	 Gene polymorphisms of CYP17 and VDR have no association to prostate volume, clinical parameters, and endocrine parameters in elderly men. The association of CYP17 polymorphism and prostate histology warrants further studies. Assessment of gene polymorphisms might provide new insights into the pathogenesis of benign prostatic hyperplasia and benign prostate enlargement and may hold promise as genetic biomarkers of this disease.	Case:148 elderly men with lower urinary tract symptoms										
137864	N	body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Bagger, Y. Z.  et al. 2000	11910656				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Danish		CDC GDPinfo	7421	Hs.524368			Climacteric. 2000 Jun;3(2):84-91	Vitamin D receptor and estrogen receptor gene polymorphisms in postmenopausal Danish women: norelation to bone markers or serum lipoproteins		601769	23900	2	2000	 A clinically significant relationship between VDR and ER genotypes and biochemical markers of bone turnover or serum lipoproteins could not be demonstrated in healthy Danish postmenopausal women.	Cohort 499 Danish postmenopausal women after 2 years of hormone replacement therapy Denmark 	hormone replacement therapy									
137865	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Tayeb, M. T.  et al. 2004	15083213				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Saudi medical journal. 2004 Apr;25(4):447-51	Vitamin D receptor, HER-2 polymorphisms and risk of prostate cancer in men with benign prostate hyperplasia		601769	23901	2	2004	 This study shows that the VDR TaqI polymorphism is associated with a group of men with BPH who are at an increase risk of PRCa, providing a potential tool to assist prediction strategies for this important disease.	Case:28 patients who presented with prostate cancer at least 6 years after the diagnosis of benign prostatic hyperplasia;Control:56 matched patients with benign prostatic hyperplasia who did not progress to prostate cancer										
137866	N	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Yang, X.  et al. 2003	12895309				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua fu chan ke za zhi. 2003 May;38(5):273-6	[Study on the relationship between some genetic factors and peak bone mineral density in Beijing young women]		601769	23902	2	2003	 (1) Body weight and BMI play important roles to PBMD of Beijing women. (2) There was no significant difference of BMD levels between VDR genotypes at any site. (3) PvuII polymorphism of ER gene was associated with low Ward triangle BMD. (4) There was significant relationship between the combination of ER and VDR polymorphisms at lumbar and hip BMD. Our data suggest that genetic variation at the ER locus, singly and in relation to the VDR locus, may influence the attainment and maintenance of peak bone mass in young women.	Cohort 159 volunteer young women Beijing 										
137867	Y	periodontitis, early-onset	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Yoshihara, A.  et al. 2001	11808760				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	CDC GDPinfo	7421	Hs.524368			Journal of dental research. 2001 Dec;80(12):2051-4	Analysis of vitamin D and Fcgamma receptor polymorphisms in Japanese patients with generalized early-onset periodontitis.		601769	23903	2	2001	In conclusion, no correlation was found between the VDR genotype and G-EOP. However, the VDR and Fc-gammaRIIIb genotype combination may be associated with susceptibility to G-EOP.	Case:42 generalized early-onset periodontitis patients;Control:52 adult periodontitis;Control:55 healthy controls										
137868	N	asthma	IMMUNE	IMM	Asthma	12	12q12-q14	VDR	46521586	46585081		Vollmert, C.  et al. 2004	15663557				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Clinical and experimental allergy. 2004 Dec;34(12):1841-50	Single nucleotide polymorphism screening and association analysis--exclusion of integrin beta 7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma.		601769	23904	2	2004	 These findings indicate that neither the human ITGB7 nor the VDR gene seem to be associated with the pathogenesis of asthma or the expression of related allergic phenotypes such as eosinophilia and changes in total IgE level.	Case:asthmatics;Control helathy probands										
137869		osteoporosis	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Liu, P. Y.  et al. 2005	15744035				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of medical genetics. 2005 Mar;42(3):221-7	A survey of haplotype variants at several disease candidate genes: the importance of rare variantsfor complex diseases.		601769	23905	2	2005	 These findings indicate that rare haplotypes/variants are important for disease susceptibility and cannot be ignored in genetics studies of complex diseases. The study has profound implications for association studies and applications of the HapMap project.	Cohort 1,873 Caucasian subjects 										
137870	Y	osteonecrosis	METABOLIC	MET	Leukemia, Lymphocytic, Acute|Osteonecrosis|Joint Diseases	12	12q12-q14	VDR	46521586	46585081		Relling, M. V.  et al. 2004	15459215	Fok I start site		coding sequence	Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of clinical oncology. 2004 Oct;22(19):3930-6	Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia.	10735810	601769	23906	2	2004	 Because folate-related and vitamin D-receptor genetic variants have been associated with bone and vasculature morbidity, these pharmacogenetic associations likely reflect the interaction of antileukemic medications with germline sensitivity to drug actions, and might identify ALL patients at highest risk to develop osteonecrosis.	Cohort 64 children with acute lymphoblastic leukemia 	dexamethasone									
137871		bone density	METABOLIC	MET	Body Weight	12	12q12-q14	VDR	46521586	46585081		Braga, V.  et al. 2000	11136533				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Italy	CDC GDPinfo	7421	Hs.524368			Calcified tissue international. 2000 Nov;67(5):361-366	Association of CTR and COLIA1 alleles with BMD values in peri- and postmenopausal women.		601769	25757	2	2000	These findings suggest an association between the COLIA1 gene polymorphism more with the age-related rate of bone loss than with peak bone mass, which apparently is somewhat affected by CTR gene polymorphism.	Cohort 663/52 663 postmenopausal (aged 48-85 years) and 52 perimenopausal (aged 47-53 years) women. 										
137872	N	bone density	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Braga, V.  et al. 2002	12016463				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Italy	CDC GDPinfo	7421	Hs.524368			Calcified tissue international. 2002 Jun;70(6):457-62	Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men.		601769	25758	2	2002	In conclusion, the polymorphism of CTR gene but not VDR and COLIA1 is associated with osteoporosis incidence and the levels of alkaline phosphatase and estradiol. The lower BMD in CC genotype is apparently associated in males with depressed bone formation and lower estradiol levels.	Cohort 253 a sample of unrelated Italian men 										
137873		bone cancer	CANCER	CAN	Bone Neoplasms|Body Weight	12	12q12-q14	VDR	46521586	46585081		Ruza, E.  et al. 2003	14528100				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of pediatric hematology/oncology. 2003 Oct;25(10):780-6	Analysis of Polymorphisms of the Vitamin D Receptor, Estrogen Receptor, and Collagen Ialpha1 Genes and Their Relationship With Height in Children With Bone Cancer		601769	25759	2	2003	 Children with bone cancer are significantly taller than the reference population, which may be influenced by the genotype for the Fok I polymorphism of the VDR gene.	Control standards published for Spanish reference children according to sex and age;Case:58/36 osteosarcoma (n=58) and Ewing sarcoma (n=36):patients										
137874		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Graft vs Host Disease	12	12q12-q14	VDR	46521586	46585081		Middleton, P. G.  et al. 2002	12203138				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Bone marrow transplantation. 2002 Aug;30(4):223-8	Vitamin D receptor gene polymorphism associates with graft-versus-host disease and survival in HLA-matched sibling allogeneic bone marrow transplantation.		601769	25760	2	2002	Analysis of VDR genotype in prospective BMT donors may identify individuals who have greater transplant-related mortality, and also allow appropriately restricted use of increased immunosuppressive prophylaxis.	Cohort HLA-matched sibling bone marrow transplant recipients 	immunosuppressive agents									
137875	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Yamada, Y.  et al. 2003	12843190				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	CDC GDPinfo	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3372-8	Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men.		601769	25761	2	2003	These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.	Cohort Japanese women and men aged 40-79 yr 										
137876		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Ortlepp, J. R.  et al. 2005	16207551				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			International journal of cardiology. 2005 Oct;105(1):90-5	Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years.		601769	25762	2	2005	 Certain GRF might have additive but small effects on the disposition for MI before the age of 65. In older patients the tested GRF had no effect, possibly indicating a mechanism of aging rather than a purely genetic determined entity. Given the small effect of the tested genetic polymorphisms the value of testing GRF remains uncertain.											
137877	N	lead toxicity	METABOLIC	MET	Kidney Diseases	12	12q12-q14	VDR	46521586	46585081		Weaver, V. M.  et al. 2003	14527840				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean	Korea	CDC GDPinfo	7421	Hs.524368			Environmental health perspectives. 2003 Oct;111(13):1613-9	Associations of Renal Function with Polymorphisms in the Delta-Aminolevulinic Acid Dehydratase, Vitamin D Receptor, and Nitric Oxide Synthase Genes in Korean Lead Workers		601769	25763	2	2003	No significant differences were seen in renal outcomes by VDR genotype, nor was consistent effect modification observed. The ALAD findings could be explained by lead-induced hyperfiltration.	Cohort 798 lead workers 										
137878	Y	lead toxicity	METABOLIC	MET	Lead Poisoning	12	12q12-q14	VDR	46521586	46585081		Theppeang, K.  et al. 2004	15213514				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Korea	CDC GDPinfo	7421	Hs.524368			Journal of occupational and environmental medicine. 2004 Jun;46(6):528-37	Associations of patella lead with polymorphisms in the vitamin D receptor, delta-aminolevulinic acid dehydratase and endothelial nitric oxide synthase genes.		601769	25764	2	2004	There was evidence that the relation between age and patella lead was modified by both the VDR and eNOS genotypes.	Cohort 652 lead workers Korea 										
137880		bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Deng, H. W.  et al. 2002	11918225				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of bone and mineral research. 2002 Apr;17(4):678-86	Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density.		601769	25766	2	2002	This is the first study in the broad field of bone genetics that tests candidate genes as QTLs for BMD by testing simultaneously for association alone, for linkage alone, and for association and linkage (via the TDT).	Cohort 630 subjects from 53 human pedigrees 										
137881		bone density; fractures, vertebral	METABOLIC	MET	Osteoporosis|Spinal Injuries	12	12q12-q14	VDR	46521586	46585081		Uitterlinden, A. G.  et al. 2004	15514891				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Netherlands	CDC GDPinfo	7421	Hs.524368			American journal of human genetics. 2004 Dec;75(6):1032-45	Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites		601769	25767	2	2004	The molecular mechanism whereby these moderate SOST genotype effects are mediated remains to be elucidated, but it is likely to involve differences in regulation of SOST gene expression.	Cohort 1,939 elderly men and women from a large population-based prospective-cohort study of Dutch whites The Netherlands 										
137882		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Liu, J. H.  et al. 2004	15061984				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese	China	CDC GDPinfo	7421	Hs.524368			Zhonghua yi xue za zhi. 2004 Mar;84(5):364-8	[Genetic risk factors of prostate cancer in Han nationality population in Northern China and a preliminary study of the reason of racial difference in prevalence of prostate cancer]		601769	25768	2	2004	 There is a significant association between the AR gene CAG polymorphisms and PCa in the Han nationality population in Northern China. The distributions of the genotypes of AR, SRD5A2 and VDR gene are different among different ethnic population, which may be one of the reasons causing the racial difference in prostate cancer risk.	Case:116 Chinese Han patients with prostate cancer Northern China;Control:190 normal male controls										
137883	N	bone density	METABOLIC	MET	Body Weight	12	12q12-q14	VDR	46521586	46585081		Wynne, F.  et al. 2002	12073153				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Irish	Ireland	CDC GDPinfo	7421	Hs.524368			Calcified tissue international. 2002 Jul;71(1):26-35	Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population.		601769	25769	2	2002	We found no association between alleles of the T950C OPG polymorphism and BMD. Similarly, we have found a lack of association between the VDR (fok1) polymorphism or COLIA1 Sp1 polymorphism and low BMD in either postmenopausal or premenopausal women in this population.	Cohort 130 premenopausal women aged 46.30 6.50 (mean SD) Ireland Cohort 381 postmenopausal women aged 61.26 8.50 (mean SD) Ireland 										
137884		prostate cancer	CANCER	CAN	Adenocarcinoma|Bone Neoplasms|Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Luscombe, C. J.  et al. 2001	11532853				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Carcinogenesis. 2001 Sep;22(9):1343-7	Outcome in prostate cancer associations with skin type and polymorphism in pigmentation-related genes.		601769	25770	2	2001	These data indicate for the first time that pigmentation response to UV is associated with outcome in prostate cancer.	Cohort 210 prostate cancer patients 	radiation, ultraviolet									
137885		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Luscombe, C. J.  et al. 2001	11720436				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			British journal of cancer. 2001 Nov;85(10):1504-9	Prostate cancer risk: associations with ultravioletradiation, tyrosinase and melanocortin-1 receptor genotypes.		601769	25771	2	2001	Our data show for the first time, that allelism in genes linked with skin pigment synthesis is associated with prostate cancer risk possibly because it mediates the protective effects of UV. Importantly, susceptibility is associated with an interaction between host predisposition and exposure.	Control:155 controls not otherwise specified in abstract;Case:210 prostate cancer cases	radiation, ultraviolet									
137886		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	12	12q12-q14	VDR	46521586	46585081		Partridge, J. M.  et al. 2004	15210908				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Neurology. 2004 Jun;62(12):2323-5	Susceptibility and outcome in MS: associations withpolymorphisms in pigmentation-related genes		601769	25772	2	2004	These preliminary data suggest a role for these genes in MS pathogenesis.	Case:419 multiple sclerosis patients;Control:422:controls										
137887	Y	pregnancy loss, recurrent	REPRODUCTION	REP		12	12q12-q14	VDR	46521586	46585081		Sheehan, D.  et al. 2001	11383910				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Irish		CDC GDPinfo	7421	Hs.524368			Journal of endocrinological investigation. 2001 Apr;24(4):236-45	An assessment of genetic markers as predictors of bone turnover in healthy adults.		601769	26744	2	2001	These findings suggest that healthy Irish adults with either the tt or ff VDR genotype have higher rates of bone turnover than those with Tt or TT, or Ff or FF genotypes, respectively, and therefore may have a higher risk of low bone mineral density and osteoporosis in later life.	Cohort 118 healthy Irish adults (aged 19-67 yr) 										
137888		bone density; fractures	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Bandres, E.  et al. 2005	15966503				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Spanish	Spain	CDC GDPinfo	7421	Hs.524368			Journal of endocrinological investigation. 2005 Apr;28(4):312-21	Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women.		601769	26745	2	2005												
137890		osteoporosis	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Gennari, L.  et al. 2002	12127038				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			The Journal of steroid biochemistry and molecular biology. 2002 May;81(1):24-Jan	Genetics of osteoporosis: role of steroid hormonereceptor gene polymorphisms.		601769	26747	2	2002	Review article											
137891		spondylosis, lumbar	OTHER	OTH	Spinal Osteophytosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081			16362385				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			European spine journal. 2005	Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women		601769	26748	2	2005	ER and VDR genes may contribute to lumbar spondylosis in a distinct manner: estrogen sensitivity influences the severity in the early phase after menopause while vitamin D plays an important role at older ages when the contribution of estrogen loss is weaker.											
137892		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Forrest, M. S.  et al. 2005	15711606				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Great Britain	CDC GDPinfo	7421	Hs.524368			Prostate cancer and prostatic diseases. 2005 ;8(1):95-102	Association between hormonal genetic polymorphisms and early-onset prostate cancer.		601769	26749	2	2005	These findings suggest that common polymorphisms in the AR and SRD5A2 genes may be associated with early-onset CaP in British men.Prostate Cancer and Prostatic Diseases advance online publication, 15	Case:288/50 UK males diagnosed with prostate cancer diagnosed at the age of 55 y or younger (n=288) and and additional group (n=50) of cases not selected for:age:UK;Control:700/76 population-based controls (n=700) and controls not selected by age (n=76)										
137893	Y	dengue hemorrhagic fever	INFECTION	INF	Dengue|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Loke, H.  et al. 2002	12363051				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Vietnamese	Vietnam	CDC GDPinfo	7421	Hs.524368			The American journal of tropical medicine and hygiene. 2002 Jul;67(1):102-6	Susceptibility to dengue hemorrhagic fever in vietnam: evidence of an association with variationin the vitamin d receptor and Fc gamma receptor IIa genes.		601769	27334	2	2002	The less frequent t allele of a variant at position 352 of the vitamin D receptor (VDR) gene was associated with resistance to severe dengue (P = 0.03). Homozygotes for the arginine variant at position 131 of the Fc gammaRIIA gene, who have less capacity to opsonize IgG2 antibodies, may also be protected from DHF (one-tailed P = 0.03). No associations were found with polymorphisms in the mannose binding lectin, interleukin-1 (IL-4), and IL-1 receptor antagonist genes. Further studies to confirm these associations are warranted.	Control:300 matched controls;Case:400 dengue hemorrhagic fever patients										
137894		body mass; birth weight; height	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Sweeney, C.  et al. 2005	16030120				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1802-9	Insulin-like growth factor pathway polymorphisms associated with body size in Hispanic and non-Hispanic white women.		601769	27335	2	2005												
137895	Y	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Katsumata, K.  et al. 2002	11984699				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese		CDC GDPinfo	7421	Hs.524368			Journal of bone and mineral metabolism. 2002 ;20(3):164-9	Association of gene polymorphisms and bone density in Japanese girls.		601769	27336	2	2002	These results suggest that the Fok I polymorphism of the VDR gene and the Dra II polymorphism of the PTH gene are risk factors for low bone density in Japanese girls.	Cohort 125 healthy Japanese girls (age, 13.4 +/- 0.89 years; range, 12-15 years) 										
137896		bone density	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Dvornyk, V.  et al. 2003	12914574				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		CDC GDPinfo	7421	Hs.524368			Annals of human genetics. 2003 May;67(Pt 3):216-27	Differentiation of Caucasians and Chinese at Bone Mass Candidate Genes: Implication for EthnicDifference of Bone Mass		601769	27337	2	2003	If some of the candidate genes we studied indeed underlie variation in BMD, their population differentiation revealed here between ethnic groups may contribute to understanding ethnic difference in BMD.	Cohort 1,131 randomly selected individuals from Caucasian and Chinese populations 										
137897		bone density	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Dvornyk, V.  et al. 2005	16117875				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese, Caucasian		CDC GDPinfo	7421	Hs.524368			Chinese medical journal. 2005 Aug;118(15):1235-44	Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bonemass.		601769	27338	2	2005	 The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.											
137898		spinal ossification	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Ogata, N.  et al. 2002	12195069				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	CDC GDPinfo	7421	Hs.524368			Spine. 2002 Aug;27(16):1765-71	Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity		601769	27339	2	2002	 The contribution of genetic backgrounds is likely to be stronger in women than in men with ossification of the posterior longitudinal ligament of the spine. Estrogen receptor polymorphism was associated with both initiation and promotion of the disorder, but interleukin-1beta polymorphism was associated only with its initiation in women.	Case:120 patients (77 men and 43 women) with ossification of the posterior longitudinal ligament of the spine;Control:306 ontrol subjects without the disorder (166 men and 140 women)										
137899		tuberculosis	INFECTION	INF	Tuberculosis|HIV Infections|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Fitness, J.  et al. 2004	15381817				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Malawian	Malawi	CDC GDPinfo	7421	Hs.524368			The American journal of tropical medicine and hygiene. 2004 Sep;71(3):341-9	Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.		601769	27340	2	2004	Genetic susceptibility to TB in Africans appears polygenic. The relevant genes and variants may vary significantly between populations, and may be affected by HIV infection status.	Case:514 tuberculosis cases Karonga district, northern Malawi;Control:913:controls	HIV									
137900		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q12-q14	VDR	46521586	46585081		Luedecking-Zimmer, E.  et al. 2003	12555245				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):114-7	Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.		601769	27341	2	2003	Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD.	Control:523:controls;Case:564 Alzheimer's disease cases										
137901		osteoporosis, postmenopausal; estradiol	METABOLIC	MET	Osteoporosis	12	12q12-q14	VDR	46521586	46585081		Brodowska, A.   2003	15552843				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Annales Academiae Medicae Stetinensis. 2003 ;49:111-30	[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes]		601769	27342	2	2003	The following conclusions were drawn: 1. There is no connection between VDR and ER gene polymorphism and degree of osteoporosis before treatment. 2. XX, PP and Bb markers or X, P, B alleles are associated with a significant decrease in therapeutic efficacy. Nevertheless, satisfactory results were achieved in each woman with primary osteoporosis. 3. Estradiol concentration in serum before and during HRT does not depend on the polymorphism of VDR and ER genes.	Cohort 44 postmenopausal women aged 44-75 years with primary osteoporosis on cyclic HRT (hormonal replacement therapy) 	calcium hormone replacement therapy physical activity Vitamin D									
137903		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Delgado, J. C.  et al. 2002	12404162				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			The Journal of infectious diseases. 2002 Nov;186(10):1463-8	Ethnic-specific genetic associations with pulmonary tuberculosis.		601769	27344	2	2002	The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.	Control:106 tuberculin-positive controls subjects;Case:358 Cambodian patients with pulmonary TB:Cambodia										
137904		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	12	12q12-q14	VDR	46521586	46585081		Kishi, S.  et al. 2003	12969965				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Blood. 2004 Jan;103(1):67-72	Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.		601769	27345	2	2003	The UGT1A1 6/6 genotype predicted lower catechol AUC. Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race.	Cohort children with acute lymphoblastic leukemia 	prednisone									
137905		bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Lau, H. H.  et al. 2005	15781005				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		CDC GDPinfo	7421	Hs.524368			Bone. 2005 Apr;36(4):700-9	Genetic and environmental determinants of bone mineral density in Chinese women.		601769	27669	2	2005	We conclude that  BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions.	Cohort 531 pre- and postmenopausal southern Chinese women 										
137906		breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Hefler, L. A.  et al. 2004	15241822				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		601769	27880	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
137907		bone density	NORMALVARIATION	NV		12	12q12-q14	VDR	46521586	46585081		Willing, M. C.  et al. 2003	12879219				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Osteoporosis international. 2003 Aug;14(8):650-8	Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa BoneDevelopment Study.		601769	28025	2	2003	Our data suggest that genetic variation at multiple genetic loci is important in bone accrual in children. Moreover, the combination of genotypes as several loci may be as important as a single genotype for determining BMD and BMC.	Cohort 448 healthy non-Hispanic white children participating in the Iowa Bone Development Study 										
137908		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Figer, A.  et al. 2003	14719475				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			The Israel Medical Association journal. 2003 Oct;5(10):741-5	Analysis of polymorphic patterns in candidate genes in Israeli patients with prostate cancer		601769	28026	2	2003	 In Israeli prostate cancer patients, the EPHX His113 allele is seemingly associated with a more advanced, late-onset disease. These preliminary data need to be confirmed by a larger and more ethnically diverse study.	Cohort 224 Jewish Israeli prostate cancer patients 										
137909		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Nam, R. K.  et al. 2003	14693733				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		601769	28206	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
137910		atherosclerosis, coronary	CARDIOVASCULAR	CARD		12	12q12-q14	VDR	46521586	46585081		Ortlepp, J. R.  et al. 2002	12446192				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		601769	28434	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
137911		Q fever	INFECTION	INF	Q Fever|Fatigue Syndrome, Chronic	12	12q12-q14	VDR	46521586	46585081		Helbig, K. J.  et al. 2003	12595908				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		601769	28476	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
137912		breast cancer	CANCER	CAN	Breast Neoplasms	12	12q12-q14	VDR	46521586	46585081		Goode, E. L.  et al. 2002	12036913				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		601769	28512	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
137914		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Barton, A.  et al. 2002	11981324				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		601769	28617	2	2002	Review article											
137915		ARDS	OTHER	OTH	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201	Sig.	Medford ARL 2005	15741444	VEGF(C936T)			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	ARDS pts		KGB	7422	Hs.73793			Thorax. 2005 Mar;60(3):244-8			192240	6480	1	2005	 These data support a role for VEGF in the pathogenesis of ARDS and its associated physiological derangement.											
137916		non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	6	6p12	VEGFA	43845930	43862201		Niklinska W et al. 2001	11720743				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			Lung cancer (Amsterdam, Netherlands). 2001 Dec;34 Suppl 2:S59-64	Expression of vascular endothelial growth factor (VEGF) in non-small cell lung cancer (NSCLC): association with p53 gene mutation and prognosis.		192240	6481	1	2001												
137917	Y	acute renal allograft rejection	IMMUNE	IMM	Acute Disease|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Shahbazi M et al. 2002	11752046				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			Journal of the American Society of Nephrology. 2002 Jan;13(1):260-4	Vascular endothelial growth factor gene polymorphisms are associated with acute renal allograft rejection.		192240	6482	1	2002												
137918	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p12	VEGFA	43845930	43862201		Lin CC 2003	12893367				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			Urology. 2003 Aug;62(2):374-7	Vascular endothelial growth factor gene-460 C/T polymorphism is a biomarker for prostate cancer.		192240	6483	1	2003	 The Bst U I polymorphism of the VEGF gene is a suitable genetic marker of prostate cancer but cannot be used in the prediction of the outcome of patients who have received hormonal therapy.	Control:119 healthy people;Case:96 prostate cancer patients	hormone therapy									
137919		COPD	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	6	6p12	VEGFA	43845930	43862201		Sakao S 2003	12853540				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			Chest. 2003 Jul;124(1):323-7	Vascular endothelial growth factor and the risk of smoking-related COPD.		192240	6484	1	2003	 The 936 C/T polymorphism of the VEGF gene (including both homozygous and heterozygous) was not associated with the development of COPD (odds ratio, 1.23; 95% confidence interval, 0.760 to 1.995).											
137920	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p12	VEGFA	43845930	43862201		Krippl P 2003	12845639				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			International journal of cancer. Journal international du cancer. 2003 Sep;106(4):468-71	A common 936 C/T gene polymorphism of vascular endothelial growth factor is associated with decreased breast cancer risk.		192240	6485	1	2003	We conclude that  carriers of a VEGF 936T-allele are at decreased risk for breast cancer, this, however, requiring further confirmation in a larger study.	Case:500 women with breast cancer;Control:500 sex- and age-matched healthy control subjects										
137921	Y	Diabetic Retinopathy in Type 2 Diabetes	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Awata T 2002	11978667				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			Y Wang	7422	Hs.73793	diabetic retinopathy		Diabetes. 2002 May;51(5):1635-9	A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes.		192240	6486	1	2002	These data suggest that the C(-634)G polymorphism in the 5'UTR of the VEGF gene is a novel genetic risk factor for diabetic retinopathy.	Control:118 type 2 diabetic patients without retinopathy;Case:150 type 2 diabetic patients with retinopathy										
137922	Y	spontaneous preterm delivery.	REPRODUCTION	REP	Obstetric Labor, Premature	6	6p12	VEGFA	43845930	43862201		Papazoglou D 2004	15059159	-634G/C and 936C/T			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			KGB	7422	Hs.73793			Acta obstetricia et gynecologica Scandinavica. 2004 May;83(5):461-5	Association of -634G/C and 936C/T polymorphisms of the vascular endothelial growth factor with spontaneous preterm delivery.		192240	6487	1	2004	 An association was demonstrated between the VEGF 936C/T polymorphism and deliveries before 37 weeks of gestation.	Case:54 women with preterm labor;Control:79 menopausal women with at least two term spontaneous:labors.										
137923	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Proteinuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Ray D 2004	14988276				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Caucasian		Y Wang	7422	Hs.73793	diabetic retinopathy		Diabetes. 2004 Mar;53(3):861-4	Association of the VEGF gene with proliferative diabetic retinopathy but not proteinuria in diabetes.		192240	6488	1	2004	The VEGF +405 genotype did not associate with proliferative retinopathy, and neither polymorphism was associated with diabetic nephropathy. The VEGF -460C polymorphism is a positive independent predictive factor for the development of proliferative diabetic retinopathy. Increased VEGF production from high-expressing haplotypes, including -460C, may promote neovascularization.	Cohort 267 Caucasians with diabetes, comprising 69 patients with proliferative retinopathy and 198 patients with other grades of retinopathy UK										
137924	Y	retinopathy, diabetic	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Awata, T.  et al. 2002	11978667				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Diabetes. 2002 May;51(5):1635-9	A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes		192240	14737	2	2002	These data suggest that the C(-634)G polymorphism in the 5'UTR of the VEGF gene is a novel genetic risk factor for diabetic retinopathy.	Control:118 type 2 diabetic patients without retinopathy;Case:150 type 2 diabetic patients with retinopathy										
137925	Y	cutaneous malignant melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	6	6p12	VEGFA	43845930	43862201		Howell, W. M.  et al. 2002	12058259				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Genes and immunity. 2002 Jun;3(4):229-32	Influence of vascular endothelial growth factor single nucleotide polymorphisms on tumour development in cutaneous malignant melanoma.		192240	14738	2	2002	These preliminary results indicate that VEGF genotype may influence tumour growth in CMM, possibly via the effects of differential VEGF expression on tumour angiogenesis.	Case:152 cutaneous malignant melanoma patients;Control:266:controls										
137926	Y	diabetes, type 1; nephropathy in other diseases	IMMUNE	IMM	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Yang, B.  et al. 2003	12505748				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of diabetes and its complications. 2003 Jan-Feb;17(1):6-Jan	Polymorphisms of the vascular endothelial growth factor and susceptibility to diabetic microvascular complications in patients with type 1 diabetes mellitus.		192240	14739	2	2003	These results suggest that polymorphisms in the promoter region of the VEGF gene together with the ALR2 may be associated with the pathogenesis of diabetic nephropathy.	Control:141 normal healthy controls;Case:232 patients with type 1 diabetes										
137927	N	kidney disease	RENAL	REN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Abe, A.  et al. 2002	12597245				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Japanese	Japan	CDC GDPinfo	7422	Hs.73793			The Tohoku journal of experimental medicine. 2002 Nov;198(3):181-90	Single nucleotide polymorphisms in the 3' untranslated region of vascular endothelial growth factor gene in Japanese population with or without renal cell carcinoma.		192240	14740	2	2002	We revealed that there are significant ethnic differences in the C702T and G1612A allele frequencies, but suggested that C702T, C936T and G1612A polymorphisms in the 3'-UTR of VEGF gene are not associated with the risk of RCC, at least in Japanese population.	Case:145 Japanese renal cell carcinoma patients;Control:145 healthy controls										
137928	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p12	VEGFA	43845930	43862201		Morohashi, K.  et al. 2003	12740269				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Japanese	Japan	CDC GDPinfo	7422	Hs.73793			Chest. 2003 May;123(5):1520-6	Vascular endothelial growth factor gene polymorphisms in Japanese patients with sarcoidosis		192240	14741	2	2003	 We suggest that in VEGF gene polymorphisms the T allele at + 813 may decrease susceptibility to sarcoidosis.	Case:103 Japanese patients with sarcoidosis;Control:146 healthy Japanese control subjects										
137929	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p12	VEGFA	43845930	43862201		Krippl, P.  et al. 2003	12845639				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			International journal of cancer. Journal international du cancer. 2003 Sep;106(4):468-71	A common 936 C/T gene polymorphism of vascular endothelial growth factor is associated with decreased breast cancer risk.		192240	14742	2	2003	We conclude that  carriers of a VEGF 936T-allele are at decreased risk for breast cancer, this, however, requiring further confirmation in a larger study.	Case:500 women with breast cancer;Control:500 sex- and age-matched healthy control subjects										
137931	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p12	VEGFA	43845930	43862201		Young, H. S.  et al. 2004	14962110				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of investigative dermatology. 2004 Jan;122(1):209-15	Single-nucleotide polymorphisms of vascular endothelial growth factor in psoriasis of early onset		192240	14744	2	2004	These results suggest that alterations in the biology of VEGF may be involved in the pathogenesis of psoriasis. VEGF, flt-1, and KDR could provide attractive targets for future psoriasis therapy.	Case patients with type 1 chronic plaque psoriasis;Control healthy controls										
137932		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6p12	VEGFA	43845930	43862201		Papazoglou, D.  et al. 2004	14997002				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Molecular human reproduction. 2004 May;10(5):321-4	Vascular endothelial growth factor gene polymorphisms and pre-eclampsia.		192240	14745	2	2004												
137933	N	HTLV-1 infection	INFECTION	INF	Paraparesis, Tropical Spastic|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Saito, M.  et al. 2004	15050452				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of the neurological sciences. 2004 Apr;219(2-Jan):157-61	Serum concentration and genetic polymorphism in the 5'-untraslated region of VEGF is not associated with susceptibility to HTLV-I associated myelopathy/tropical spastic paraparesis (HAM/TSP) in HTLV-I infected individuals		192240	14746	2	2004	Our results indicate that both VEGF gene polymorphism and serum VEGF levels are not specifically associated with the risk of HAM/TSP in our cohort.	Case:202 HTLV-I- associated myelopathy/tropical spastic paraparesis patients;Control:202/108 asymptomatic HTLV-I seropositive carriers (n=202) and seronegative healthy controls (n=108)										
137934	Y	preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature	6	6p12	VEGFA	43845930	43862201		Papazoglou, D.  et al. 2004	15059159	(-634G/C and 936C/T)			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Acta obstetricia et gynecologica Scandinavica. 2004 May;83(5):461-5	Association of -634G/C and 936C/T polymorphisms of the vascular endothelial growth factor with spontaneous preterm delivery.		192240	14747	2	2004	 An association was demonstrated between the VEGF 936C/T polymorphism and deliveries before 37 weeks of gestation.	Case:54 women with preterm labor;Control:79 menopausal women with at least two term spontaneous:labors.										
137935	Y	hemodialysis	OTHER	OTH		6	6p12	VEGFA	43845930	43862201		Szeto, C. C.  et al. 2004	15086939				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Kidney international. 2004 May;65(5):1947-55	Genetic polymorphism of VEGF: Impact onlongitudinal change of peritoneal transport and survival of peritoneal dialysis patients.		192240	14748	2	2004	 We conclude that in peritoneal dialysis patients, the AA genotype of VEGF promoter at -2578 position was associated with progressive increase in peritoneal transport. The CA/AA genotype at -2578 position was also associated with an excess mortality. Our finding also suggests that systemic and local peritoneal VEGF production may be differentially regulated.	Cohort 135 consecutive new peritoneal dialysis patients 										
137936	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Han, S. W.  et al. 2004	15213335				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Rheumatology (Oxford, England). 2004 Sep;43(9):1173-7	VEGF gene polymorphisms and susceptibility to rheumatoid arthritis		192240	14749	2	2004	 Our data suggest that the VEGF gene may play a role in the development of RA	Case:140 patients with rheumatoid arthritis;Control:149 healthy unrelated controls										
137937	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Hsieh, Y. Y.  et al. 2004	15283056	(-460 C/T )			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of reproductive medicine. 2004 Jun;49(6):468-72	T allele for VEGF gene-460 polymorphism at the 5'-untranslated region: association with a highersusceptibility to endometriosis		192240	14750	2	2004	 T/T homozygotes and the T allele of the VEGF-460 gene are associated with a higher risk of endometriosis. Heterozygotes and C allele are related to the lower risk of endometriosis formation. VEGF polymorphism likely contributes to the pathogenesis of endometriosis and may become a useful markerfor predicting endometriosis susceptibility.	Case:122 women with endometriosis;Control:131 women without endometriosis										
137938		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Salvarani, C.  et al. 2004	15338501				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of rheumatology. 2004 Sep;31(9):1785-9	Vascular Endothelial Growth Factor Gene Polymorphisms in Behcet's Disease		192240	14751	2	2004	 Our data indicate that carriers of -634C and I alleles are associated with susceptibility to developing BD.	Case:122 consecutive Italian patients with Behcet's disease:Italy;Control:200 healthy age and sex matched blood donors										
137939	Y	18F-fluorodeoxyglucose uptake	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Carcinoma, Ductal, Breast	6	6p12	VEGFA	43845930	43862201		Wolf, G.  et al. 2004	15609122	936C>T			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Breast cancer research and treatment. 2004 Dec;88(3):205-8	The 936C>T polymorphism of the gene for vascular endothelial growth factor is associated with 18F-fluorodeoxyglucose uptake		192240	14752	2	2004	 In the present study the common VEGF 936C>T polymorphisms had a major impact on 18F-FDG uptake in breast cancer patients. If this result can be confirmed in following studies, it might have strong relevance for the use of PET as diagnostic tool.	Cohort 37 breast cancer patients in whom positron emission tomography was performed for detection of metastases 										
137940	Y	retinopathy	UNKNOWN	UNK	Retinopathy of Prematurity	6	6p12	VEGFA	43845930	43862201		Vannay, A.  et al. 2005	15635051				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Pediatric research. 2005 Mar;57(3):396-8	Association of genetic polymorphisms of vascular endothelial growth factor and risk for proliferative retinopathy of prematurity.		192240	14753	2	2005	These findings suggest that the VEGF genotype may be associated with risk for proliferative ROP in VLBW infants.	Control:115 very low birth weight infants who were not treated with cryo/laser therapy;Case:86 very low birth weight infants (birth weight	cryo/laser therapy									
137941	Y	respiratory distress syndrome	UNKNOWN	UNK	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Medford, A. R.  et al. 2005	15741444				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Thorax. 2005 Mar;60(3):244-8	Vascular endothelial growth factor gene polymorphism and acute respiratory distress syndrome.		192240	14754	2	2005	 These data support a role for VEGF in the pathogenesis of ARDS and its associated physiological derangement.	Case:117/103 ventilated patients with acute respiratory distress syndrome (n=117) and "at risk" of acute respiratory distress syndrome;Control:137 normal subjects										
137942	Y	endometriosis	REPRODUCTION	REP	Endometriosis	6	6p12	VEGFA	43845930	43862201		Bhanoori, M.  et al. 2005	15746194	(+405G>C)		promoter	Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Indian	India	CDC GDPinfo	7422	Hs.73793			Human reproduction (Oxford, England). 2005 Jul;20(7):1844-9	The vascular endothelial growth factor (VEGF) +405G>C 5'-untranslated region polymorphism and increased risk of endometriosis in South Indian women: a case control study.		192240	14755	2	2005	 The -460T/+405C haplotype in the VEGF gene, which is associated with lower promoter activity, was significantly less common in women with endometriosis than in controls. These data suggest that the +405G allele may influence the likelihood of a woman developing the disease.	Control:210 women with no evidence of disease;Case:215 endometriosis affected women										
137943	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Lee, S. J.  et al. 2005	15767331				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1		Korea	CDC GDPinfo	7422	Hs.73793			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):571-5	Vascular endothelial growth factor gene polymorphisms and risk of primary lung cancer.		192240	14756	2	2005	These results suggest that the VEGF gene may be contribute to an inherited predisposition to lung cancer.	Case:432 lung cancer patients;Control:432 healthy controls frequency matched for age and sex										
137944	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Papazoglou, D.  et al. 2005	15820807				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Fertility and sterility. 2005 Apr;83(4):959-63	Vascular endothelial growth factor gene polymorphisms and idiopathic recurrent pregnancy loss.		192240	14757	2	2005	This is the first report on VEGF gene polymorphisms in women with recurrent miscarriage, demonstrating that the -1154G/A VEGF gene polymorphism is associated with idiopathic recurrent abortions.	Case:52 patients with a history of three or more unexplained consecutive pregnancy losses;Control:82 healthy, postmenopausal controls with at least two live births and no history of pregnancy loss										
137945	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	6	6p12	VEGFA	43845930	43862201		Ku, K. T.  et al. 2005	15878754	(-460 C/T )			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Oral oncology. 2005 May;41(5):497-502	Vascular endothelial growth factor gene-460 C/T polymorphism is a biomarker for oral cancer		192240	14758	2	2005	There is no gender difference in this VEGF gene polymorphism. Therefore, the BstUI polymorphism of the VEGF gene is a suitable genetic marker of oral cancer.	Case:137 patients with oral cancer;Control:230 healthy people										
137946	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Van der Meer, P.  et al. 2005	15880336	(+405G>C)		promoter	Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of cardiac failure. 2005 May;11(4):279-84	The VEGF +405 CC promoter polymorphism is associated with an impaired prognosis in patients with chronic heart failure: a MERIT-HF substudy.		192240	14759	2	2005	 Our results indicate that the VEGF +405 CC genotype is associated with an adverse clinical outcome in patients with CHF. This genotype has been associated with lower plasma VEGF levels, suggesting a possible mechanism of action for the gene variant. This belief is further supported by the fact that the VEGF -460 polymorphism, which does not affect plasma VEGF levels, did not adversely affect the prognosis.	Control:187 healthy controls;Case:596 congestive heart failure patients enrolled in the Metoprolol CR/XL Randomized Intervention Trial in Heart Failure study										
137947		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Jin, Q.  et al. 2005	15897560				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Clinical cancer research. 2005 May;11(10):3647-53	Vascular endothelial growth factor polymorphisms in relation to breast cancer development and prognosis.		192240	14760	2	2005	 Although none of the polymorphisms studied in the VEGF gene was found to influence susceptibility to breast cancer significantly, some of the VEGF genotypes and haplotypes may influence tumor growth through an altered expression of VEGF and tumor angiogenesis.	Control ethnically and geographically selected controls;Case:571/974 unselected breast cancer cases from Sweden (n=571) and familial breast cancer cases from Poland and:Germany (n=974) Sweden, Poland and Germany										
137948	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Progression|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Howell, W. M.  et al. 2005	15937083				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of medical genetics. 2005 Jun;42(6):485-90	VEGF polymorphisms and severity of atherosclerosis.		192240	14761	2	2005	 This study provides preliminary evidence that VEGF polymorphism is associated with development of atherosclerosis, possibly via regulation of VEGF expression, supporting a protective effect for VEGF in atherosclerosis. These results require replication in an independent study group, combined with study of additional candidate polymorphisms in the VEGF gene.	Cohort 984 subjects from the Southampton Atherosclerosis Study 										
137950	Y	retinopathy, diabetic; macular edema	UNKNOWN	UNK	Diabetic Retinopathy|Macular Edema|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Awata, T.  et al. 2005	15963467				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Biochemical and biophysical research communications. 2005 Aug;333(3):679-85	Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes.		192240	14763	2	2005												
137951	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Hoon Kim, S.  et al. 2005	15979997	(+405G>C)			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1		Korea	CDC GDPinfo	7422	Hs.73793			Human reproduction (Oxford, England). 2005 Oct;20(10):2904-8	Vascular endothelial growth factor gene +405 C/G polymorphism is associated with susceptibility to advanced stage endometriosis.		192240	14764	2	2005	 These findings suggest that the VEGF +405 C/G polymorphism may be associated with the risk of advanced stage endometriosis in the Korean population.											
137952		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Seo, J. S.  et al. 2005	16014410				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Rheumatology (Oxford, England). 2005 Oct;44(10):1299-302	Influence of VEGF gene polymorphisms on the severity of ankylosing spondylitis.		192240	14765	2	2005	 This study demonstrates that polymorphisms of the VEGF gene may contribute to disease severity in AS.											
137953	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Van Vught, P. W.  et al. 2005	16301496				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Dutch		CDC GDPinfo	7422	Hs.73793			Neurology. 2005 Nov;65(10):1643-5	Lack of association between VEGF polymorphisms and ALS in a Dutch population.		192240	14766	2	2005												
137954		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Uveitis	6	6p12	VEGFA	43845930	43862201			16386649				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1	Korean		CDC GDPinfo	7422	Hs.73793			Human immunology. 2005 Oct;66(10):1068-73	Association of vascular endothelial growth factor gene polymorphisms with behcet disease in a korean population		192240	14767	2	2005												
137955	Y	vascular endothelial growth factor	CARDIOVASCULAR	CARD		6	6p12	VEGFA	43845930	43862201		Renner, W.  et al. 2000	11146397				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of vascular research. 2000 Nov-Dec;37(6):443-8	A common 936 C/T mutation in the gene for vascular endothelial growth factor is associated with vascular endothelial growth factor plasma levels.		192240	20150	2	2000	 We have found three common mutations in the VEGF gene; one of them, a 936 C/T exchange, may be an important determinant of VEGF plasma levels.	Cohort 23 healthy men aged 18-36 years 										
137956	Y	diabetic nephropathy; retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Proteinuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Ray, D.  et al. 2004	14988276				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Diabetes. 2004 Mar;53(3):861-4	Association of the VEGF gene with proliferative diabetic retinopathy but not proteinuria in diabetes		192240	20151	2	2004	The VEGF +405 genotype did not associate with proliferative retinopathy, and neither polymorphism was associated with diabetic nephropathy. The VEGF -460C polymorphism is a positive independent predictive factor for the development of proliferative diabetic retinopathy. Increased VEGF production from high-expressing haplotypes, including -460C, may promote neovascularization.	Cohort 267 Caucasians with diabetes, comprising 69 patients with proliferative retinopathy and 198 patients with other grades of retinopathy UK 										
137957		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	6	6p12	VEGFA	43845930	43862201		Yamamori, M.  et al. 2004	15522212				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1		Japan	CDC GDPinfo	7422	Hs.73793			Biochemical and biophysical research communications. 2004 Dec;325(1):144-50	Association of VEGF genotype with mRNA level in colorectal adenocarcinomas.		192240	20152	2	2004	T-1498C (G-1190A) and C-7T were found to be associated with higher levels of VEGF mRNA, and may be a risk factor for the development of liver metastasis and/or prognosis of colorectal adenocarcinoma.	Cohort 18 Japanese colorectal cancer patients 										
137958		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Koukourakis, M. I.  et al. 2004	15541813				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Lung cancer (Amsterdam, Netherlands). 2004 Dec;46(3):293-8	VEGF gene sequence variation defines VEGF gene expression status and angiogenic activity in non-small cell lung cancer.		192240	20153	2	2004	It is concluded that inherited VEGF sequence variations, which characterize the tumor genome itself, are strong determinants of the molecular VEGF and VEGF-downstream phenotype of NSCLC. The large variation in angiogenicity between tumors of similar histologic morphology emerges as a consequence of the 'parental' VEGF gene ability to produce VEGF.	Cohort 36 individuals with non-small cell lung cancer 										
137959	Y	Alzheimer's disease; vascular endothelial growth factor levels	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Del Bo, R.  et al. 2005	15732116				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Annals of neurology. 2005 Mar;57(3):373-80	Vascular endothelial growth factor gene variability is associated with increased risk for AD.		192240	20154	2	2005	These findings suggest that polymorphisms within the promoter region of the VEGF gene confer greater risk for AD, probably by reducing its neuroprotective effect, and confirm the biological role of VEGF in NEUROLOGICALenerative processes.	Control healthy control subjects;Case consecutively recruited Italian patients with sporadic Alzheimer's disease;Control:49 control subjects;Case:96 Alzheimer's disease patients										
137960		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Terry, P. D.  et al. 2004	15763997			promoter	Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of neurogenetics. 2004 Apr-Jun;18(2):429-34	VEGF promoter haplotype and amyotrophic lateral sclerosis (ALS).		192240	20155	2	2004	We found a 3-fold increased risk among individuals homozygous for the AAG or AGG haplotypes (95%CI = 0.7 - 13.4), consistent with the findings of the previous study. Given the wide confidence interval, our findings should be interpreted cautiously.	Case amyotrophic lateral sclerosis cases;Control:controls										
137962	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Ischemia|Giant Cell Arteritis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Rueda, B.  et al. 2005	16142870				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of rheumatology. 2005 Sep;32(9):1737-41	A functional variant of vascular endothelial growth factor is associated with severe ischemic complications in giant cell arteritis.		192240	20157	2	2005	 Our results suggest a potential implication of the VEGF gene -634 G-->C polymorphism in the development of severe ischemic manifestations of GCA.											
137963		Alzheimer's disease; vascular disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Chapuis, J.  et al. 2005	16154235				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Neurobiology of aging. 2005	Association study of the vascular endothelial growth factor gene with the risk of developing Alzheimer's disease.		192240	20158	2	2005												
137964		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Rueda, B.  et al. 2005	16216669				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Human immunology. 2005 Aug;66(8):864-8	Analysis of vascular endothelial growth factor (VEGF) functional variants in rheumatoid arthritis.		192240	20159	2	2005												
137965		psoriasis	IMMUNE	IMM	Psoriasis	6	6p12	VEGFA	43845930	43862201			16385345				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of investigative dermatology. 2006 Feb;126(2):453-9	Interaction between Genetic Control of Vascular Endothelial Growth Factor Production and Retinoid Responsiveness in Psoriasis		192240	20160	2	2005			acitretin									
137966	Y	Henoch-Schonlein purpura; nephritis, Henoch-Schonlein	RENAL	REN	Nephritis|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201			16395752				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			The Journal of rheumatology. 2006 Jan;33(1):69-73	Association between functional haplotypes of vascular endothelial growth factor and renal complications in henoch-schlein purpura		192240	20161	2	2006	 Our results suggest a potential implication of the VEGF -1154 G-->A and -634 G-->C polymorphisms in the development of nephritis in patients with HSP.											
137967	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Kariyazono, H.  et al. 2004	15470196				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Pediatric research. 2004 Dec;56(6):953-9	Association of vascular endothelial growth factor (VEGF) and VEGF receptor gene polymorphisms with coronary artery lesions of Kawasaki disease.		192240	23907	2	2004	These findings suggested that VEGF and its receptor, KDR, genes contributed to the development of CAL in KD patients.	Case Japanese patients with Kawasaki disease;Control normal control subjects										
137968	Y	retinopathy of prematurity	UNKNOWN	UNK	Retinopathy of Prematurity	6	6p12	VEGFA	43845930	43862201		Cooke, R. W.  et al. 2004	15161830				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Investigative ophthalmology & visual science. 2004 Jun;45(6):1712-5	Genetic polymorphisms and retinopathy of prematurity		192240	25773	2	2004	 The progression of ROP to threshold ROP in very preterm infants may be influenced by genetic differences in VEGF production. Future efforts at prevention of threshold ROP may be directed toward blocking excess production of VEGF.	Case:91 infants who had received treatment for threshold retinopathy of prematurity;Control:97 comparison infants										
137969	Y	urinary calculus	METABOLIC	MET	Urinary Calculi	6	6p12	VEGFA	43845930	43862201		Chen, W. C.  et al. 2003	12719950				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Urological research. 2003 Jul;31(3):218-22	Vascular endothelial growth factor gene polymorphism is associated with calcium oxalate stone disease.		192240	26750	2	2003	We conclude that  the VEGF gene Bst U I polymorphism is a suitable genetic marker of urolithiasis.	Case:230 patients with calcium oxalate stone;Control:230 normal controls										
137970	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p12	VEGFA	43845930	43862201		McCarron, S. L.  et al. 2002	12067976				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Cancer research. 2002 Jun;62(12):3369-72	Influence of cytokine gene polymorphisms on the development of prostate cancer.		192240	27346	2	2002	These results suggest that single nucleotide polymorphisms associated with differential production of IL-8, IL-10, and VEGF are risk factors for PC, possibly acting via their influence on angiogenesis.	Case:247 prostate cancer patients;Control:263:controls										
137971		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	6	6p12	VEGFA	43845930	43862201		Kim, E. J.  et al. 2005	15667866				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1		Korea	CDC GDPinfo	7422	Hs.73793			Urology. 2005 Jan;65(1):70-5	Genotypes of TNF-alpha, VEGF, hOGG1, GSTM1, and GSTT1: useful determinants for clinical outcome ofbladder cancer.		192240	27347	2	2005	 Our data collectively suggest that these genetic polymorphisms may be useful as prognostic markers for bladder cancer in the clinical setting.	Control:153 control subjects;Case:153 patietns with primary bladder cancer										
137973		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Radha, V.  et al. 2002	12090088				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Indian journal of ophthalmology. 2002 Mar;50(1):11-May	Genes and diabetic retinopathy.		192240	27671	2	2002	Review article											
137974		macular degeneration, age-related	VISION	VIS	Macular Degeneration	6	6p12	VEGFA	43845930	43862201			16384981				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		192240	27881	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
137975		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Howell, W. M.  et al. 2005	15917409				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		192240	27882	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
137977	Y	non-papillary renal cell carcinomas	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Chromosome Deletion	3	3p26-p25	VHL	10158318	10168746		Kenck C et al. 1996	8758207				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			The Journal of pathology. 1996 Jun;179(2):157-61	Mutation of the VHL gene is associated exclusively with the development of non-papillary renal cell carcinomas.		608537	6490	1	1996												
137978	Y	germline mutations	OTHER	OTH	Pheochromocytoma|Multiple Endocrine Neoplasia Type 2a	3	3p26-p25	VHL	10158318	10168746		Bar M et al. 1997	9497878				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			Clinical endocrinology. 1997 Dec;47(6):707-12	Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.		608537	6491	1	1997	 Most, if not all, patients with typical unilateral sporadic phaeochromocytoma do not have von Hippel-Lindau disease or MEN2. Thus, clinical and/or molecular investigation for von Hippel-Lindau disease and MEN2 in this patient population does not appear to be indicated.											
137979	Y	germline mutations	OTHER	OTH	Pheochromocytoma|Adrenal Gland Neoplasms	3	3p26-p25	VHL	10158318	10168746		Brauch H et al. 1997	9398721				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			The Journal of clinical endocrinology and metabolism. 1997 Dec;82(12):4101-4	Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene.		608537	6492	1	1997												
137980	Y	Renal cell carcinoma	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	3	3p26-p25	VHL	10158318	10168746		Bruning T et al. 1997	9137812				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792	trichloroethene (TRI) exposure persons		Archives of toxicology. 1997 ;71(5):332-5	Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene.		608537	6493	1	1997												
137981		congenital polycythemia.	OTHER	OTH	Polycythemia|Anoxia	3	3p26-p25	VHL	10158318	10168746		Pastore Y 2003	12844285				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			American journal of human genetics. 2003 Aug;73(2):412-9	Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.		608537	6494	1	2003												
137982		Chuvash-type congenital polycythemia	OTHER	OTH	Polycythemia	3	3p26-p25	VHL	10158318	10168746		Percy MJ 2003	12702509	Arg200Trp			Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2		Asia|Europe	KGB	7428	Hs.517792			Blood. 2003 Aug;102(3):1097-9	Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.		608537	6495	1	2003		Case:4										
137983		colorectal carcinoma	CANCER	CAN	Carcinoma|Colorectal Neoplasms	3	3p26-p25	VHL	10158318	10168746		Kuwai T 2004	14965365				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			Cancer science. 2004 Feb;95(2):149-53	Mutation of the von Hippel-Lindau (VHL) gene in human colorectal carcinoma: association with cytoplasmic accumulation of hypoxia-inducible factor (HIF)-1alpha.		608537	6496	1	2004												
137984	Y	von Hippel-Lindau type 2A	CANCER	CAN	Pheochromocytoma	3	3p26-p25	VHL	10158318	10168746		Chen F et al. 1996	8863170				von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2		Pennsylvania|Germany	KGB	7428	Hs.517792			Journal of medical genetics. 1996 Aug;33(8):716-7	Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.		608537	6497	1	1996												
137985		renal cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Hippel-lindau Disease	3	3p26-p25	VHL	10158318	10168746		Hemminki, K.  et al. 2002	12016154				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDPinfo	7428	Hs.517792			Carcinogenesis. 2002 May;23(5):809-15	Molecular epidemiology of VHL gene mutations in renal cell carcinoma patients: relation to dietaryand other factors.		608537	20162	2	2002	The present results provide evidence that the intake of vegetables, selenium and particularly of citrus fruit protects the renal VHL gene from mutational insults that may be endogenous or common in a population. Even though most of the associations are biologically plausible, and vegetables and fruit were an a priori hypothesis, fortuitous results cannot be ruled out in this relatively small study.	Control:control;Case:102 Swedish patients with renal cell carcinoma	diet smoking (tobacco) welding fumes									
137986	Y	renal cancer	CANCER	CAN	Polycythemia	3	3p26-p25	VHL	10158318	10168746		Liu, E.  et al. 2003	14604959				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDPinfo	7428	Hs.517792			Blood. 2004 Mar;103(5):1937-40	The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.		608537	20163	2	2003	We conclude that  the VHL 598C>T mutation, the most common defect of congenital polycythemia yet found, was spread from a single founder 1,000 to 62,000 years ago.	Cohort 101 subjects bearing the VHL 598C>T mutation including 72 homozygotes (61 Chuvash and 11 non-Chuvash) and 29 heterozygotes (11 Chuvash and 18 non-Chuvash) Cohort 447 normal unrelated individuals from Chuvash and other ethnic groups 										
137987		polycythemia	OTHER	OTH	Neoplasms|Vascular Diseases|Thrombosis|Polycythemia|Syndrome|Anoxia	3	3p26-p25	VHL	10158318	10168746		Gordeuk, V. R.  et al. 2004	14726398				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2		Russia	CDC GDPinfo	7428	Hs.517792			Blood. 2004 May;103(10):3924-32	Congenital disorder of oxygen-sensing: associationof the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors		608537	20164	2	2004	Thus, Chuvash polycythemia is a distinct VHL syndrome manifested by thrombosis, vascular abnormalities and intact hypoxic regulation despite increased basal expression of hypoxia-regulated genes.	Control:controls;Case Chuvash polycythemia patients										
137989		pheochromocytoma	OTHER	OTH	Pheochromocytoma|Glomus Tumor|Multiple Endocrine Neoplasia Type 2a|Hippel-lindau Disease	3	3p26-p25	VHL	10158318	10168746		Neumann, H. P.  et al. 2002	12000816				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDPinfo	7428	Hs.517792			The New England journal of medicine. 2002 May;346(19):1459-66	Germ-line mutations in nonsyndromic pheochromocytoma		608537	26751	2	2002	 Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.	Case:271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease										
137990	Y	anticoagulant complications	METABOLIC	MET	Thrombosis	16	16p11.2	VKORC1	31009675	31013777		D'Andrea, G.  et al. 2004	15358623				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			Blood. 2005 Jan;105(2):645-9	A polymorphism in VKORC1 gene is associated with an inter-individual variability in the dose-anticoagulant effect of warfarin		608547	14768	2	2004	Genetic variants of the VKORC1 gene locus modulate the mean daily dose of drug prescribed to acquire the target anticoagulation intensity.	Cohort 147 anticoagulation patients 	warfarin									
137991		anticoagulant complications	METABOLIC	MET	Carcinoma, Hepatocellular|Liver Neoplasms	16	16p11.2	VKORC1	31009675	31013777		Bodin, L.  et al. 2005	15790782				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			Blood. 2005 Jul;106(1):135-40	Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity.		608547	20166	2	2005	The simple genotyping of two SNPs, VKORC1-1639G >A or 1173C >T and the CYP2C9*3 polymorphisms, could thus predict a high risk of overdose before initiation of anticoagulation with acenocoumarol, and provide a safer and more individualized anticoagulant therapy.	Cohort 222 healthy volunteers 	acenocoumarol									
137992	Y	warfarin therapy, response to	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Rieder, M. J.  et al. 2005	15930419				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			The New England journal of medicine. 2005 Jun;352(22):2285-93	Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose.		608547	20167	2	2005	 VKORC1 haplotypes can be used to stratify patients into low-, intermediate-, and high-dose warfarin groups and may explain differences in dose requirements among patients of different ancestries. The molecular mechanism of this warfarin dose response appears to be regulated at the transcriptional level.	Cohort European-American patients receiving long-term warfarin maintenance therapy 										
137994		warfarin sensitivity	METABOLIC	MET		16	16p11.2	VKORC1	31009675	31013777		Geisen, C.  et al. 2005	16270629				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			Thrombosis and haemostasis. 2005 Oct;94(4):773-9	VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation.		608547	20170	2	2005												
137995		warfarin sensitivity	METABOLIC	MET	Cardiovascular Diseases	16	16p11.2	VKORC1	31009675	31013777		Yuan, H. Y.  et al. 2005	15888487				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Chinese		CDC GDPinfo	79001	Hs.324844			Human molecular genetics. 2005 Jul;14(13):1745-51	A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.		608547	23908	2	2005	The promoter polymorphism abolished an E-box consensus sequences and dual luciferase assay revealed that VOKRC1 promoter with the G allele had a 44% increase of activity compared to the A allele. The differences in allele frequencies of A/G allele and its levels of VKORC1 promoter activity may underscore the inter-individual differences in warfarin dosage as well as inter-ethnic differences between Chinese and Caucasians.	Control:104/95/92 randomly selected Chinese patients receiving warfarin (n=104), normal Chinese controls (n=95) and normal Caucasian controls (n=92);Case:16 Chinese patients having warfarin sensitivity (=1.5 mg/d, n=11) or resistance (=6.0 mg/d, n=5)										
137996		warfarin therapy, response to	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Sconce, E. A.  et al. 2005	15947090				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			Blood. 2005 Oct;106(7):2329-33	The impact of CYP2C9 and VKORC1 genetic polymorphism and patient characteristics upon warfarin dose requirements: proposal for a newdosing regimen.		608547	23909	2	2005												
137998		warfarin therapy, response to	METABOLIC	MET		16	16p11.2	VKORC1	31009675	31013777		Wadelius, M.  et al. 2005	15883587				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			The pharmacogenomics journal. 2005 ;5(4):262-70	Common VKORC1 and GGCX polymorphisms associated with warfarin dose.		608547	23911	2	2005	Genotype-based dose predictions may in future enable personalised drug treatment from the start of warfarin therapy.	Cohort 201 warfarin-treated patients 										
137999	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9p24	VLDLR	2611792	2644485	n	Akahane A et al. 2002	12363388				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3			KGB	7436	Hs.370422			Schizophrenia research. 2002 Nov;58(1):37-41	Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia.		192977	6498	1	2002	We found no significant association of schizophrenia with the trinucleotide repeat polymorphism of the reelin or VLDLR genes, suggesting that these polymorphisms do not have a major role in the pathogenesis of the disease.	Case:150 Japanese patients with schizophrenia;Control:150 controls matched for sex, age and ethnicity										
138000	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9p24	VLDLR	2611792	2644485		Akahane A et al. 2002	12363388				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3			KGB	7436	Hs.370422			Schizophrenia research. 2002 Nov;58(1):37-41	Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia.		192977	6499	1	2002	We found no significant association of schizophrenia with the trinucleotide repeat polymorphism of the reelin or VLDLR genes, suggesting that these polymorphisms do not have a major role in the pathogenesis of the disease.	Case:150 Japanese patients with schizophrenia;Control:150 controls matched for sex, age and ethnicity										
138002	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9p24	VLDLR	2611792	2644485	0.035 corrected	McIlroy SP et al. 1999	10206233	9 repeat of a CGG repeat polymorphism		5'promoter	Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3	Northern Ireland Caucasian	Northern Ireland	KGB	7436	Hs.370422			American journal of medical genetics. 1999 Apr;88(2):140-4	Risk of Alzheimer's disease is associated with a very low-density lipoprotein receptor genotype in Northern Ireland.		192977	6501	1	1999		Case:108; Control:108										
138003	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9p24	VLDLR	2611792	2644485		Daimon M 2003	12646233				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3	Japanese	Japan	Y Wang	7436	Hs.370422			Biochemical and biophysical research communications. 2003 Mar;302(4):751-8	Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.		192977	6502	1	2003												
138004	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9p24	VLDLR	2611792	2644485		Okuizumi K et al. 1995	7550352				very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L20470		Japan	KGB	7436	Hs.370422			Nature genetics. 1995 Oct;11(2):207-9	Genetic association of the very low density lipoprotein (VLDL) receptor gene with sporadic Alzheimer's disease.		192977	6503	1	1995	Our results suggest that the VLDLR gene is a susceptibility gene for AD.											
138005	Y	dementia	PSYCH	PSY	Dementia|Cognition Disorders	9	9p24	VLDLR	2611792	2644485		Helbecque, N.  et al. 2001	11342683				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3			CDC GDPinfo	7436	Hs.370422			Neurology. 2001 May;56(9):1183-8	VLDL receptor polymorphism, cognitive impairment, and dementia.		192977	14772	2	2001	 The VLDLR-5-repeat allele may constitute a genetic susceptibility factor for dementia, particularly in the presence of vascular risk factors. This observation suggests the influence of vascular risk factors in the occurrence of dementia.	Case:124 demented subjects from a clinical study;Control:179 control subjects;Case:221 demented subjects from a population study;Control:249 control subjects										
138006	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9p24	VLDLR	2611792	2644485		Akahane, A.  et al. 2002	12363388				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3			CDC GDPinfo	7436	Hs.370422			Schizophrenia research. 2002 Nov;58(1):37-41	Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia.		192977	23912	2	2002	We found no significant association of schizophrenia with the trinucleotide repeat polymorphism of the reelin or VLDLR genes, suggesting that these polymorphisms do not have a major role in the pathogenesis of the disease.	Case:150 Japanese patients with schizophrenia;Control:150 controls matched for sex, age and ethnicity										
138007	Y	Lp(a)	METABOLIC	MET	Coronary Disease	9	9p24	VLDLR	2611792	2644485		Benes, P.  et al. 2002	11931574				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3	Czech	Czech Republic	CDC GDPinfo	7436	Hs.370422			Human biology; an international record of research. 2002 Feb;74(1):129-36	The relationship among apolipoprotein(a) polymorphisms, the low-density lipoprotein receptor-related protein, and the very low density lipoprotein receptor genes, and plasma lipoprotein(A) concentration in the Czech population.		192977	25774	2	2002	In conclusion, both APOA length polymorphisms significantly influenced plasma Lp(a) concentration in the Czech population studied, and this circumstance could explain the association in this population observed earlier between APOA (TTTTA)n polymorphism and CAD (Benes et al. 2000). Only a minor role in the regulation of plasma Lp(a) levels is suggested for the C766T LRP and the (CGG)n VLDLR polymorphisms.	Cohort Czech subjects who underwent coronary angiography Cohort Czech subjects who underwent coronary angiography 										
138008		bone density	METABOLIC	MET		9	9p24	VLDLR	2611792	2644485		Yamada, Y.  et al. 2005	15953542				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3	Japanese		CDC GDPinfo	7436	Hs.370422			Genomics. 2005 Jul;86(1):76-85	Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men.		192977	25775	2	2005	CYP17A1 and MTP are susceptibility loci for increased BMD in postmenopausal and premenopausal Japanese women, respectively, and that VLDLR constitutes such a locus in Japanese men.											
138010	N	macular degeneration	VISION	VIS	Macular Degeneration	11	11q13	VMD2	61474407	61488981	n	Akimoto A et al. 2001	11271465				Vitelliform macular dystrophy 2 (Best disease, bestrophin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004183.2	Japanese	Japan	KGB	7439	Hs.591961			Graefes Arch Clin Exp Ophthalmol. 2001 Jan;239(1):66-8	Lack of association of mutations of the bestrophin gene with age-related macular degeneration in non-familial Japanese patients.		607854	6504	1	2001	 No mutations were found in the bestrophin gene in nonfamilial Japanese patients with AMD or in normal controls.	Cohort 85 non-familial AMD patients (average age 67.5 years; 71 male, 14 female) diagnosed by indocyanine green angiography										
138011	N	macular degeneration, age-related (AMD)	VISION	VIS	Macular Degeneration	11	11q13	VMD2	61474407	61488981		Akimoto, A.  et al. 2001	11271465				Vitelliform macular dystrophy 2 (Best disease, bestrophin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004183.2	Japanese	Japan	CDC GDPinfo	7439	Hs.591961			Graefes Arch Clin Exp Ophthalmol. 2001 Jan;239(1):66-8	Lack of association of mutations of the bestrophin gene with age-related macular degeneration in non-familial Japanese patients.		607854	20173	2	2001	 No mutations were found in the bestrophin gene in nonfamilial Japanese patients with AMD or in normal controls.	Cohort 85 non-familial AMD patients (average age 67.5 years; 71 male, 14 female) diagnosed by indocyanine green angiography 										
138012		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p21.3	VPS52	33326026	33347717		Medeiros, R.  et al. 2002	12210484				Vacuolar protein sorting 52 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022553.4			CDC GDPinfo	6293	Hs.480356			The Prostate. 2002 Sep;53(1):88-94	Linkage between polymorphisms in the prostate specific antigen ARE1 gene region, prostate cancer risk, and circulating tumor cells.		603443	14774	2	2002	 Our results indicate that polymorphism in the PSA gene promoter may be an important biomarker for prostate cancer risk, especially for an earlier onset of PC.	Control:127 healthy men;Case:151 prostate cancer patients										
138013		azoospermia	REPRODUCTION	REP	Oligospermia|Genetic Predisposition to Disease	6	6p21.3	VPS52	33326026	33347717		Matsuzaka, Y.  et al. 2002	12366783				Vacuolar protein sorting 52 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022553.4		Japan	CDC GDPinfo	6293	Hs.480356			Tissue antigens. 2002 Jul;60(1):53-63	Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604		603443	26752	2	2002	Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia.	Case patients with non-obstructive azoospermia;Control:controls										
138014	Y	keratoconus	OTHER	OTH	Keratoconus	20	20p11.23-p11.22	VSX1	25000129	25010767		Bisceglia, L.  et al. 2005	15623752				Visual system homeobox 1 homolog, CHX10-like (zebrafish)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014588.4	Italian	Italy	CDC GDPinfo	30813	Hs.274264			Investigative ophthalmology & visual science. 2005 Jan;46(1):39-45	VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of anovel mutation.		605020	20174	2	2005	 Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus, when it is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.	Cohort 80 Italian keratoconus-affected subjects 										
138015	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Myocardial Infarction|Acute Disease	12	12p13.3	VWF	5928300	6104097		Dai K et al. 2001	11755948				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3		China	KGB	7450	Hs.440848			Thrombosis research. 2001 Dec;104(6):389-95	The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke.		193400	6505	1	2001	Results show that the Sma I polymorphism is strongly associated with increased risk of acute ischemic stroke, however, no association was observed between this polymorphism and AMI. This polymorphism of vWF may represent a newly identified risk factor for acute ischemic stroke in Chinese. Whether it is the real functional variant associated with acute ischemic stroke remains to be elucidated.	Case:107 patients with acute ischemic stroke;Control:113 healthy controls age- and sex-matched for each:patient;Case:49 patients with acute myocardial infarction										
138016	Y	plasma vWF	METABOLIC	MET		12	12p13.3	VWF	5928300	6104097		Keightley AM et al. 1999	10361125			promoter	Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			KGB	7450	Hs.440848			Blood. 1999 Jun;93(12):4277-83	Variation at the von Willebrand factor (vWF) gene locus is associated with plasma vWF:Ag levels: identification of three novel single nucleotide polymorphisms in the vWF gene promoter.		193400	6506	1	1999												
138017	N	proliferative retinopathy	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 2	12	12p13.3	VWF	5928300	6104097	n	Beranek M et al. 2002	12381897				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			KGB	7450	Hs.440848			Ophthalmic research. 2002 Sep-Oct;34(5):327-30	Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in non-insulin-dependent diabetes mellitus.		193400	6507	1	2002	Although significantly higher plasma von Willebrand factor antigen levels in NIDDM patients with PDR have been described in several studies, our findings indicate that no association exists between the two polymorphisms and PDR. However, the -1793G/C polymorphism might affect the risk of NIDDM.	Case diabetics with and without retinopathy;Control:nondiabetics										
138018		reduced levels of von Willebrand factor messenger RNA	OTHER	OTH	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097		Eikenboom JC et al. 1992	1448779				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3	Dutch	Netherlands	KGB	7450	Hs.440848			Thrombosis and haemostasis. 1992 Oct;68(4):448-54	Mutations in severe type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA.		193400	6508	1	1992												
138020	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 1	12	12p13.3	VWF	5928300	6104097		Lacquemant C et al. 2000	10760079	Thr789Ala vWF			Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			KGB	7450	Hs.440848			Kidney international. 2000 Apr;57(4):1437-43	Association between high von willebrand factor levels and the Thr789Ala vWF gene polymorphism but not with nephropathy in type I diabetes. The GENEDIAB Study Group and the DESIR Study Group.		193400	6510	1	2000	 It is unlikely that polymorphisms in the vWF gene contribute to the risk for nephropathy in type I diabetic patients. However, the Thr789Ala polymorphism might affect the risk for CHD in this population through modulation of plasma vWF levels.											
138021	Y	type 1 von Willebrand disease	OTHER	OTH	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097		O'Brien LA 2003	12649144				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3		Canada|France|Great Britain	KGB	7450	Hs.440848			Blood. 2003 Jul;102(2):549-57	Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease.		193400	6511	1	2003												
138023	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Thrombosis	12	12p13.3	VWF	5928300	6104097		van der Meer IM 2004	14717782				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			KGB	7450	Hs.440848			British journal of haematology. 2004 Feb;124(3):343-7	Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study.		193400	6513	1	2004	No associations were found in the absence of advanced atherosclerosis. In conclusion, this study suggests that the G allele of the -1793 C/G polymorphism in the VWF gene is associated with an increased risk of CHD, but only in subjects with advanced atherosclerosis.	Case:352 subjects with coronary heart disease:Cohort:736 individuals of a random cohort										
138024		myocardial infarction; stroke, ischemic	CARDIOVASCULAR	CARD		12	12p13.3	VWF	5928300	6104097		Simon, D.  et al. 2000	11236861				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Human biology; an international record of research. 2000 Dec;72(6):1055-63	Von Willebrand factor gene polymorphisms in three Brazilian ethnic groups.		193400	14775	2	2000	These results furnish important background data for evolutionary and anthropological investigations; in addition, they will be useful for establishing the origin and molecular characterization of the different forms of von Willebrand disease, as well as for detecting carriers and offering genetic counseling to those with this condition.	Cohort 										
138025	N	myocardial infarction; stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Myocardial Infarction|Acute Disease	12	12p13.3	VWF	5928300	6104097		Dai, K.  et al. 2001	11755948				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3	Chinese	China	CDC GDPinfo	7450	Hs.440848			Thrombosis research. 2001 Dec;104(6):389-95	The Sma I polymorphism in the von Willebrand factor gene associated with acute ischemic stroke.		193400	14776	2	2001	Results show that the Sma I polymorphism is strongly associated with increased risk of acute ischemic stroke, however, no association was observed between this polymorphism and AMI. This polymorphism of vWF may represent a newly identified risk factor for acute ischemic stroke in Chinese. Whether it is the real functional variant associated with acute ischemic stroke remains to be elucidated.	Case:107 patients with acute ischemic stroke;Control:113 healthy controls age- and sex-matched for each:patient;Case:49 patients with acute myocardial infarction										
138026		von Willebrand factor	UNKNOWN	UNK		12	12p13.3	VWF	5928300	6104097		Simon, D.  et al. 2002	12091053	(-1185A/G)			Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Thrombosis research. 2002 Mar;105(6):519-22	Analysis of the -1185A/G von Willebrand factor (VWF) gene polymorphism in two Brazilian ethnic groups and its effect on the plasma VWF levels.		193400	14777	2	2002	The present data indicate that there are no ethnic differences in VWF levels. The -1185A/G polymorphism showed significantly different frequencies between Afro-Brazilians and Euro-Brazilians, but in our study, it did not appear to play a role in the determination of VWF levels.	Cohort 420 individuals from two Brazilian ethnic groups 										
138027	N	retinopathy, diabetic	OTHER	OTH	Diabetic Retinopathy|Diabetes Mellitus, Type 2	12	12p13.3	VWF	5928300	6104097		Beranek, M.  et al. 2002	12381897				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Ophthalmic research. 2002 Sep-Oct;34(5):327-30	Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in non-insulin-dependent diabetes mellitus.		193400	14778	2	2002	Although significantly higher plasma von Willebrand factor antigen levels in NIDDM patients with PDR have been described in several studies, our findings indicate that no association exists between the two polymorphisms and PDR. However, the -1793G/C polymorphism might affect the risk of NIDDM.	Case diabetics with and without retinopathy;Control:nondiabetics										
138028		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	12	12p13.3	VWF	5928300	6104097		Simon, D.  et al. 2003	12792699	(-1185A/G)			Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Brazilian journal of medical and biological research. 2003 Jun;36(6):709-14	Association studies between -1185A/G von Willebrand factor gene polymorphism and coronary artery disease.		193400	14779	2	2003	These results suggest that -1185A/G polymorphism is not an independent risk factor for CAD.	Cohort 173 Brazilian Caucasian subjects submitted to coronary angiography 										
138029		von Willebrand's Disease	UNKNOWN	UNK	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097		Vidal, F.  et al. 2005	15886817				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Thrombosis and haemostasis. 2005 May;93(5):976-81	Von Willebrand gene tracking by single-tube automated fluorescent analysis of four short tandem repeat polymorphisms.		193400	14780	2	2005	In conclusion, the automated fluorescent capillary electrophoresis method presented here is an extremely rapid, simple and highly informative technique for association studies between VWD and the VWF gene in addition to genetic counseling and prenatal diagnosis by precise linkage analysis in VWD-affected families.	Cohort 102 individuals 										
138030	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12p13.3	VWF	5928300	6104097		Di Bitondo, R.  et al. 2001	11736957	-1185A/-1051G		promoter	Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			British journal of haematology. 2001 Dec;115(3):701-6	The -1185 A/G and -1051 G/A dimorphisms in the von Willebrand factor gene promoter and risk of myocardial infarction		193400	20175	2	2001	We therefore conclude that possession of the -1185A/-1051G haplotype does not confer an increased risk for MI.	Control:451 control subjects;Case:525 acute myocardial infarction (MI) cases										
138031	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Thrombosis	12	12p13.3	VWF	5928300	6104097		Van Der Meer, I. M.  et al. 2004	14717782				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			British journal of haematology. 2004 Feb;124(3):343-7	Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study		193400	20176	2	2004	No associations were found in the absence of advanced atherosclerosis. In conclusion, this study suggests that the G allele of the -1793 C/G polymorphism in the VWF gene is associated with an increased risk of CHD, but only in subjects with advanced atherosclerosis.	Case:352 subjects with coronary heart disease:Cohort:736 individuals of a random cohort										
138032		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	von Willebrand Disease|Genetic Predisposition to Disease|Psychotic Disorders	12	12p13.3	VWF	5928300	6104097		Lee, Y. S.  et al. 2004	15005754				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Bipolar disorders. 2004 Apr;6(2):150-5	von Willebrand's disease and psychotic disorders:co-segregation and genetic associations.		193400	20177	2	2004	 These studies are consistent with association and linkage between vWF and BD I. However, given the relatively small sample, stochastic variation is an alternative explanation.	Control:183 population-based controls;Case:194 patients with psychotic disorders (bipolar I disorder, BD I; schizoaffective disorder, SZA and:schizophrenia, SZ)										
138033		von Willebrand's Disease	UNKNOWN	UNK	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097		O'Brien, L. A.  et al. 2004	15219197				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Journal of thrombosis and haemostasis. 2004 Jul;2(7):1135-42	A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.		193400	20178	2	2004	These results suggest that the L1503Q substitution induces a conformational change in the VWF protein, which increases the protein's susceptibility to proteolysis. A three-dimensional model of the A2 domain demonstrates that the L1503Q mutation and the physiological proteolytic cleavage site for ADAMTS13 (Y(1605)-M(1606)) are localized close together in two adjacent parallel beta-sheets. The mutation L1503Q does not significantly disrupt the conformation of the protein; thus the subtle loss of multimers in this patient may be due to altered interactions with the ADAMTS13 protease.	Cohort 55 unrelated normal individuals 										
138034		atherosclerosis, coronary; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	12	12p13.3	VWF	5928300	6104097			16320153				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Experimental and clinical endocrinology & diabetes. 2005 Dec;113(10):568-72	Impact of the Thr789Ala Variant of the von Willebrand Factor Levels, on Ristocetin Co-Factor and Collagen Binding Capacity and its Association with Coronary Heart Disease in Patients With Diabetes Mellitus Type 2		193400	20179	2	2005												
138035	N	thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	12	12p13.3	VWF	5928300	6104097		Kamphuisen, P. W.  et al. 2001	11722428				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			British journal of haematology. 2001 Oct;115(1):156-8	High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene.		193400	23913	2	2001	Our data do not support the hypothesis that a single functional sequence variation in the factor VIII or VWF gene explains the majority of high factor VIII levels and thrombotic risk.	Case:301 thrombosis patients;Control:301 matched healthy controls										
138037		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	12	12p13.3	VWF	5928300	6104097		Shields, D. C.  et al. 2002	12082590				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		193400	28207	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
138038		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	14	14q32.31	WARS	99869877	99912433		Zee, R. Y.  et al. 2005	15939065				Tryptophanyl-tRNA synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004184.3			CDC GDPinfo	7453	Hs.497599			Atherosclerosis. 2005 Jul;181(1):137-41	Tryptophanyl-tRNA synthetase gene polymorphisms and risk of incident myocardial infarction.		191050	14781	2	2005												
138039	Y	X-linked thrombocytopenia	OTHER	OTH	Thrombocytopenia	X	Xp11.4-p11.21	WAS	48427152	48434759		de Saint Basile G et al. 1996	8757563				Wiskott-Aldrich syndrome (eczema-thrombocytopenia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000377.1			KGB	7454	Hs.2157			The Journal of pediatrics. 1996 Jul;129(1):56-62	Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.		300392	6514	1	1996												
138041	N	bipolar disorder	PSYCH	PSY	Wolfram Syndrome|Bipolar Disorder|Depressive Disorder, Major	4	4p16	WFS1	6322477	6355893	n	Ohtsuki T et al. 2000	10760554				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2			KGB	7466	Hs.518602			Journal of affective disorders. 2000 Apr;58(1):7-Nov	WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.		606201	6516	1	2000	 It is not likely that WFS1 mutations are responsible for as much as 25% of depressive illness.											
138042	Y	depressive disorder, major; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	4	4p16	WFS1	6322477	6355893		Koido, K.  et al. 2004	15473915				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2			CDC GDPinfo	7466	Hs.518602			The international journal of neuropsychopharmacology. 2005 Jun;8(2):235-44	Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.		606201	14782	2	2004	These results support the hypothesis that the WFS1 gene is involved in the genetic predisposition for mood disorders.	Control:160 healthy controls;Case:224 unrelated patients with major depressive disorder and bipolar disorder										
138043	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p16	WFS1	6322477	6355893		Minton, J. A.  et al. 2002	11916957				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2	U.K. population	Great Britain	CDC GDPinfo	7466	Hs.518602			Diabetes. 2002 Apr;51(4):1287-90	Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.		606201	20180	2	2002	Our results provide the first evidence that variation in the WFS1 gene may influence susceptibility to type 2 diabetes.	Cohort 152 parent-offspring trios 										
138045	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Syndrome	12	12p13.3	WNK1	732992	888219	0.025	Newhouse et al (2005) Hum Mol Genet, 14, 1805-14.	15888480	rs1468326		5'promoter	WNK lysine deficient protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018979.1	Caucasian	Great Britain	S Newhouse	65125	Hs.356604			Human molecular genetics. 2005 Jul;14(13):1805-14	Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study		605232	6838	1	2005												
138046		hypertension	CARDIOVASCULAR	CARD	Pseudohypoaldosteronism|Hypertension|Hypotension|Diabetes Mellitus|Hyperlipidemias|Syndrome	12	12p13.3	PRKWNK1	885612	886002		Kokubo, Y.  et al. 2004	15309683				WNK lysine deficient protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ296290	Japanese	Japan	CDC GDPinfo	65125	Hs.504432			Journal of human genetics. 2004 ;49(9):507-15	Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.		605232	19072	2	2004	In conclusion, our study suggests the possible involvement of WNK4 in essential hypertension in a Japanese general population.	Control:1,047:controls;Case:771 Japanese hypertensives Suita city, Japan										
138047		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	12	12p13.3	WNK1	732992	888219			16172412				WNK lysine deficient protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018979.1			CDC GDPinfo	65125	Hs.356604			Hypertension. 2005 Oct;46(4):758-65	WNK1 kinase polymorphism and blood pressure response to a thiazide diuretic		605232	25777	2	2005												
138048		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	12	12p13.3	PRKWNK1	885612	886002		Matayoshi, T.  et al. 2004	15824464				WNK lysine deficient protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ296290			CDC GDPinfo	65125	Hs.504432			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		605232	28395	2	2004			thiazide diuretics									
138049	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q21-q22	WNK4	38186221	38202610		Speirs, H. J.  et al. 2004	14967840			intron	WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3	Australian	Australia|Great Britain|Ireland	CDC GDPinfo	65266	Hs.105448			Hypertension. 2004 Apr;43(4):766-8	WNK4 Intron 10 Polymorphism Is Not Associated With Hypertension		601844	14784	2	2004	In conclusion, our study provides no support for an association of the intron 10 variant of WNK4 with essential hypertension in the Anglo-Australian population studied.	Case:184 unrelated hypertensive Australians of British extraction in which biological power was enhanced by them each having 2 hypertensive parents:Australia;Control:219 normotensive ethnically matched subjects whose parents were both normotensive										
138050		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q21-q22	WNK4	38186221	38202610		Erlich, P. M.  et al. 2003	12719438				WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3	African Americans	Africa|United States	CDC GDPinfo	65266	Hs.105448			Hypertension. 2003 Jun;41(6):1191-5	Genetic variants of WNK4 in whites and African Americans with hypertension.		601844	20182	2	2003	No significant differences in allelic or genotypic frequencies were observed in African Americans for any SNPs. The finding in whites is consistent with the hypothesis that polymorphisms in WNK4 influence the risk of hypertension. However, because the associated SNP does not appear to be a functional variant and the limitations of case/control association studies, confirmation of these results in additional cohorts is warranted.	Case:165/120 Caucasian (n=165) and African American (n=120):hypertensives;Control:91/98 Caucasian (n=91) and African American (n=98):normotensives										
138052	Y	hypertension	CARDIOVASCULAR	CARD	Pseudohypoaldosteronism|Hypertension|Hypotension|Diabetes Mellitus|Hyperlipidemias|Syndrome	17	17q21-q22	WNK4	38186221	38202610		Kokubo, Y.  et al. 2004	15309683				WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3	Japanese	Japan	CDC GDPinfo	65266	Hs.105448			Journal of human genetics. 2004 ;49(9):507-15	Identification of 108 SNPs in TSC, WNK1, and WNK4 and their association with hypertension in a Japanese general population.		601844	23914	2	2004	In conclusion, our study suggests the possible involvement of WNK4 in essential hypertension in a Japanese general population.	Control:1,047:controls;Case:771 Japanese hypertensives Suita city, Japan										
138053		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q21-q22	WNK4	38186221	38202610		Benjafield, A.  et al. 2003	14616768				WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3			CDC GDPinfo	65266	Hs.105448			Clinical genetics. 2003 Nov;64(5):433-8	Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension.		601844	25778	2	2003	Our study thus suggests possible involvement of EDNRA in essential HT.	Case:155 essential hypertensive patients with two hypertensive parents;Control:245 normotensives whose parents were both normotensive										
138054		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	17	17q21-q22	WNK4	38186221	38202610		Matayoshi, T.  et al. 2004	15824464				WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3			CDC GDPinfo	65266	Hs.105448			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		601844	28477	2	2004			thiazide diuretics									
138056		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Neurodegenerative Diseases|Genetic Predisposition to Disease	17	17q21	WNT3	42196856	42251081		Pastor, P.  et al. 2004	15293277				Wingless-type MMTV integration site family, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030753.3		Spain	CDC GDPinfo	7473	Hs.445884			Annals of neurology. 2004 Aug;56(2):249-58	Novel haplotypes in 17q21 are associated with progressive palsy		165330	27348	2	2004	A specific subhaplotype (H1E'(A)) was present in patients but was not observed in the controls. Furthermore, the haplotype, was rarely present in the disease group suggesting plays a protective role. The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the pathogenic allele exists in a subgroup of PSP patients.	Case progressive supranuclear palsy cases from 2 case-control samples;Control controls from 2 case-control samples										
138057	Y	bone density but not spondylosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	8	8p12-p11.2	WRN	31010319	31150818		Ogata N et al. 2001	11498731				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2		Japan	KGB	7486	Hs.632050			Journal of bone and mineral metabolism. 2001 ;19(5):296-301	A polymorphic variant at the Werner helicase (WRN) gene is associated with bone density but not spondylosis in postmenopausal women.		604611	6518	1	2001	These findings indicate that the WRN gene may be a candidate for the genetic regulation of osteoporosis, but not spondylosis, in normal Japanese postmenopausal women.	Cohort 221 postmenopausal women where severity of spondylosis was evaluated Cohort 377 unrelated Japanese postmenopausal women where bone density of the lumbar spine was measured										
138058	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Werner Syndrome|Diabetes Mellitus, Type 2	8	8p12-p11.2	WRN	31010319	31150818		Ye L et al. 1997	9021029				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2	Japanese	Japan	KGB	7486	Hs.632050			American journal of medical genetics. 1997 Feb;68(4):494-8	Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population.		604611	6519	1	1997												
138059	Y	diabetes, type 2	METABOLIC	MET	Werner Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Luo Y 2000	11798788				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2	Chinese	China	Y Wang	7486	Hs.632050			Zhonghua yi xue za zhi. 2000 May;80(5):360-1	The role of Werner's syndrome gene in the genetic susceptibility to the type 2 diabetes in Chinese population		604611	6520	1	2000	 The high frequency of allele R of the WRN gene in early onset Chinese type 2 diabetes patients suggests that the WRN gene may contribute to the genetic susceptibility of type 2 diabetes in Chinese population through either directly causing diabetes or interacting with the diabetogenic gene.	Control:108 normal control subjects;Case:241 type 2 diabetes patients										
138061		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	8	8p12-p11.2	WRN	31010319	31150818		Hirai, M.  et al. 2005	16098926	1367 Arg			Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDPinfo	7486	Hs.632050			Diabetes research and clinical practice. 2005 Sep;69(3):287-92	WRN gene 1367 Arg allele protects against development of type 2 diabetes mellitus.		604611	14786	2	2005												
138062	Y	bone density; spondylosis, lumbar	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	8	8p12-p11.2	WRN	31010319	31150818		Ogata, N.  et al. 2001	11498731				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2	Japanese	Japan	CDC GDPinfo	7486	Hs.632050			Journal of bone and mineral metabolism. 2001 ;19(5):296-301	A polymorphic variant at the Werner helicase (WRN) gene is associated with bone density, but not spondylosis, in postmenopausal women.		604611	20184	2	2001	These findings indicate that the WRN gene may be a candidate for the genetic regulation of osteoporosis, but not spondylosis, in normal Japanese postmenopausal women.	Cohort 221 postmenopausal women where severity of spondylosis was evaluated Cohort 377 unrelated Japanese postmenopausal women where bone density of the lumbar spine was measured 										
138063	Y	diabetes, type 2	METABOLIC	MET	Werner Syndrome|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Luo, Y.  et al. 2000	11798788				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2	Chinese	China	CDC GDPinfo	7486	Hs.632050			Zhonghua yi xue za zhi. 2000 May;80(5):360-1	[The role of Werner's syndrome gene in the genetic susceptibility to the type 2 diabetes in Chinese population]		604611	20185	2	2000	 The high frequency of allele R of the WRN gene in early onset Chinese type 2 diabetes patients suggests that the WRN gene may contribute to the genetic susceptibility of type 2 diabetes in Chinese population through either directly causing diabetes or interacting with the diabetogenic gene.	Control:108 normal control subjects;Case:241 type 2 diabetes patients										
138065	Y	WAGR syndrome	DEVELOPMENTAL	DEV	Wilms Tumor|Aniridia|Cryptorchidism|Chromosome Deletion|Syndrome	11	11p13	WT1	32365900	32413663		Gessler M et al. 1993	7687865				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Genes, chromosomes & cancer. 1993 Jul;7(3):131-6	Homozygous inactivation of WT1 in a Wilms' tumor associated with the WAGR syndrome.		607102	6521	1	1993												
138066	Y	abnormal urogenital development	DEVELOPMENTAL	DEV	Wilms Tumor|Urogenital Abnormalities|Pseudohermaphroditism|Kidney Failure, Acute|Syndrome	11	11p13	WT1	32365900	32413663		Pelletier J et al. 1991	1655284				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Cell. 1991 Oct;67(2):437-47	Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.		607102	6522	1	1991												
138067		diffuse mesangial sclerosis	OTHER	OTH	Kidney Neoplasms|Wilms Tumor|Sclerosis	11	11p13	WT1	32365900	32413663		Webb NJ et al. 1995	7794729				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Pediatric nephrology (Berlin, Germany). 1995 Apr;9(2):252-3	Do children with diffuse mesangial sclerosis in association with mutations of the Wilm's tumour suppressor gene (WT1) require bilateral nephrectomy?		607102	6523	1	1995												
138068	Y	Denys-Drash syndrome	OTHER	OTH	Pseudohermaphroditism|Nephrotic Syndrome	11	11p13	WT1	32365900	32413663		Ghahremani M et al. 1996	8956030				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Human heredity. 1996 Nov-Dec;46(6):336-8	A novel mutation H373Y in the Wilms' tumor suppressor gene WT1 associated with Denys-Drash syndrome.		607102	6524	1	1996												
138069	Y	wilms' tumor and congenital male genitourinary malformation	CANCER	CAN	Kidney Neoplasms|Wilms Tumor|Urogenital Abnormalities	11	11p13	WT1	32365900	32413663		Sakamoto J et al. 2001	11518820				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Pediatric research. 2001 Sep;50(3):337-44	A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.		607102	6525	1	2001												
138070	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Nerve Degeneration	11	11p13	WT1	32365900	32413663		Lovell MA 2003	12914969				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			KGB	7490	Hs.591980			Brain research. 2003 Sep;983(2-Jan):84-96	Wilms' tumor suppressor (WT1) is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer's disease.		607102	6526	1	2003												
138071	Y	Wilm's tumor	CANCER	CAN	Wilms Tumor	11	11p13	WT1	32365900	32413663		Royer-Pokora, B.  et al. 2004	15150775				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDPinfo	7490	Hs.591980			American journal of medical genetics Part A. 2004 Jun;127(3):249-57	Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotypecorrelations for Wilms tumor development.		607102	20187	2	2004	In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal-predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation.	Cohort 282 Wilm's tumor patient 										
138072		nephrotic syndrome	RENAL	REN	Gonadoblastoma|Neoplasms, Gonadal Tissue|Urogenital Abnormalities|Nephrotic Syndrome	11	11p13	WT1	32365900	32413663		Ruf, R. G.  et al. 2004	15253707				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDPinfo	7490	Hs.591980			Kidney international. 2004 Aug;66(2):564-70	Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.		607102	20188	2	2004	 According to the data acquired in this study, patients presenting with a female phenotype and SRNS and male patients presenting with genital abnormalities should especially be screened to take advantage of the important genetic information on potential Wilms' tumor risk and differential therapy. This will also help to provide more data on the phenotype/genotype correlation in this patient population.	Control:110 sporadic cases of steroid-sensitive nephrotic:syndrome;Case:115 sporadic cases of steroid-resistant nephrotic:syndrome										
138073		Wilms tumor	CANCER	CAN	Kidney Neoplasms|Wilms Tumor|Congenital Abnormalities	11	11p13	WT1	32365900	32413663		Little, S. E.  et al. 2004	15483024				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDPinfo	7490	Hs.591980			Journal of clinical oncology. 2004 Oct;22(20):4140-6	Frequency and Heritability of WT1 Mutations in Nonsyndromic Wilms' Tumor Patients: A UK Children'sCancer Study Group Study		607102	20189	2	2004	 Constitutional WT1 mutations occur with a low frequency (2.1%; 95% CI, 0.8% to 4.6%) in nonsyndromic WT patients. Most mutations occurred in children with unilateral WT without associated genitourinary abnormalities, creating difficulties in identifying individuals with germline mutations on phenotype alone. Two factors that may indicate that an individual is carrying a germline WT1 mutation are an early age of onset and stromal-predominant histology of the WT.	Cohort 282 patients treated at seven United Kingdom Children's Cancer Study Group centers UK 										
138074		Wilms tumor	CANCER	CAN	Kidney Neoplasms|Wilms Tumor|Genetic Predisposition to Disease	11	11p13	WT1	32365900	32413663		Perotti, D.  et al. 2005	15838390				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDPinfo	7490	Hs.591980			Journal of pediatric hematology/oncology. 2005 Apr;27(4):197-201	WT1 gene analysis in sporadic early-onset and bilateral wilms tumor patients without associated abnormalities.		607102	20190	2	2005	These results suggest that early age of diagnosis and bilaterality are not by themselves efficient predictors of germline WT1 alterations in WT patients without associated abnormalities.	Cohort 20 patients with sporadic Wilms tumor 										
138075	Y	hypospadias	DEVELOPMENTAL	DEV	Hypospadias	11	11p13	WT1	32365900	32413663		Wang, Y.  et al. 2004	15266301				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3	Chinese	China	CDC GDPinfo	7490	Hs.591980			European journal of human genetics. 2004 Sep;12(9):706-12	Mutation analysis of five candidate genes in Chinese patients with hypospadias.		607102	27349	2	2004	In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.	Control:controls;Case:90 Chinese hypospadias patients										
138076	Y	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q12.1	XBP1	27520547	27526560		Chen, W.  et al. 2004	15184063				X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2			CDC GDPinfo	7494	Hs.437638			Biochemical and biophysical research communications. 2004 Jul;319(3):866-70	A case-control study provides evidence of association for a functional polymorphism -197C/G in XBP1 to schizophrenia and suggests a sex-dependent effect		194355	14787	2	2004	Our current data suggest that -197C/G in XBP1 is also a genetic risk factor for schizophrenia. In addition, it presents a sex-dependent genetic effect for the disorder.	Control:371:controls;Case:374 schizophrenic patients										
138078	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q12.1	XBP1	27520547	27526560		Hou, S. J.  et al. 2004	15331160	XBP1-116C/G			X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2	Chinese		CDC GDPinfo	7494	Hs.437638			Neuroscience letters. 2004 Sep;367(2):232-4	X-box binding protein 1 (XBP1) C--116G polymorphisms in bipolar disorders and age of onset.		194355	14789	2	2004	These negative findings suggest that the XBP1 C-116G polymorphism does not play a major role in the pathogenesis of bipolar disorders in Chinese populations.	Case:153 Chinese bipolar disorder patients;Control:174:controls										
138079		personality traits	PSYCH	PSY		22	22q12.1	XBP1	27520547	27526560		Kato, C.  et al. 2005	15892135	XBP1-116C/G			X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2			CDC GDPinfo	7494	Hs.437638			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):103-5	XBP1 gene polymorphism (-116C/G) and personality.		194355	14790	2	2005	The result is provisional and should be interpreted with caution, partly because the previous study suggested the allele as a risk allele for bipolar disorder. Further studies are required to confirm the results.	Cohort 195 healthy Japanese volunteers 										
138081	N	Calcium signaling	UNKNOWN	UNK		22	22q12.1	XBP1	27520547	27526560		Kusumi, I.  et al. 2004	15380296				X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2			CDC GDPinfo	7494	Hs.437638			Neuroscience letters. 2004 Oct;369(1):3-Jan	Lack of association between XBP1 genotype and calcium signaling in the platelets of healthy subjects		194355	20191	2	2004	The present results suggest no significant difference in the basal Ca level or 5-HT-induced Ca mobilization among normal subjects with -116C/C, C/G, and G/G genotypes. Further investigations are necessary to examine the relationship in the different peripheral blood cells and/or in larger samples from patients with bipolar disorder.	Cohort healthy controls 										
138082	N	methamphetamine dependence	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	22	22q12.1	XBP1	27520547	27526560		Morita, Y.  et al. 2005	15936534				X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2			CDC GDPinfo	7494	Hs.437638			Neuroscience letters. 2005 Jul;383(2-Jan):194-8	The X-box binding protein 1 (XBP1) gene is not associated with methamphetamine dependence.		194355	20192	2	2005	We found no significant association in allele and genotype frequencies of the polymorphism either with methamphetamine dependence or any clinical phenotype of dependence. Because the polymorphism is located in the promoter region of the XBP-1 gene and affects transcription activity of the gene, it is unlikely that dysfunction of XBP-1 may induces susceptibility to methamphetamine dependence.	Control:controls;Case methamphetamine dependent subjects										
138083		personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	22	22q12.1	XBP1	27520547	27526560		Kusumi, I.  et al. 2005	16154272				X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2		Japan	CDC GDPinfo	7494	Hs.437638			Neuroscience letters. 2005 Dec;391(2-Jan):10-Jul	Relationship between XBP1 genotype and personality traits assessed by TCI and NEO-FFI.		194355	20193	2	2005												
138084		McLeod syndrome	OTHER	OTH	Neuromuscular Diseases|Hematologic Diseases|Genetic Diseases, X-Linked|Syndrome	X	Xp21.1	XK	37430051	37476322		Singleton BK 2003	12899725				Kell blood group precursor (McLeod phenotype)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021083.2			KGB	7504	Hs.78919			British journal of haematology. 2003 Aug;122(4):682-5	McLeod syndrome resulting from a novel XK mutation.		314850	6527	1	2003												
138086	Y	reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity	CANCER	CAN	Lung Neoplasms	9	9q22.3	XPA	99477011	99499460		Wu X et al. 2003	12663511				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			KGB	7507	Hs.591907			Carcinogenesis. 2003 Mar;24(3):505-9	XPA polymorphism associated with reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity.		278700	6529	1	2003	Our data suggest that the XPA 5' non-coding region polymorphism modulates NER capacity and is associated with decreased lung cancer risk, especially in the presence of exposure to tobacco carcinogens.	Case:695 lung cancer cases;Control:695 age-, sex- ethnicity- and smoking matched control:subjects										
138088	N	cisplatin-resistant human ovarian cancer	CANCER	CAN	Ovarian Neoplasms	9	9q22.3	XPA	99477011	99499460	n	States JC et al. 1996	8973600				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			KGB	7507	Hs.591907			Cancer letters. 1996 Nov;108(2):233-7	Enhanced XPA mRNA levels in cisplatin-resistant human ovarian cancer are not associated with XPA mutations or gene amplification.		278700	6531	1	1996												
138089	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	9	9q22.3	XPA	99477011	99499460		Park, J. Y.  et al. 2002	12376498				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2		Korea	CDC GDPinfo	7507	Hs.591907			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):993-7	Polymorphisms of the DNA repair gene xeroderma pigmentosum group a and risk of primary lung cancer		278700	14792	2	2002	These results suggest that the XPA A23G polymorphism contributes to genetic susceptibility for lung cancer.	Control:185 healthy controls matched on age and sex;Case:265 lung cancer patients	smoking (tobacco)									
138090	Y	lung cancer	CANCER	CAN	Lung Neoplasms	9	9q22.3	XPA	99477011	99499460		Wu, X.  et al. 2003	12663511				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Carcinogenesis. 2003 Mar;24(3):505-9	XPA polymorphism associated with reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity.		278700	14793	2	2003	Our data suggest that the XPA 5' non-coding region polymorphism modulates NER capacity and is associated with decreased lung cancer risk, especially in the presence of exposure to tobacco carcinogens.	Case:695 lung cancer cases;Control:695 age-, sex- ethnicity- and smoking matched control:subjects										
138091	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Butkiewicz, D.  et al. 2004	15598786				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2242-6	Association between the risk for lung adenocarcinoma and a (-4) G-to-A polymorphism in the XPA gene.		278700	14795	2	2004	The significant effect of the XPA polymorphism in heavy smokers and occupationally exposed individuals suggests an important gene-environment interaction for the XPA gene. The underlying mechanisms as to why AA homozygotes are predisposed to lung adenocarcinoma and which specific carcinogens are involved remains to be determined.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (including 204 adenocarcinoma and 212 squamous cell carcinoma)	occupational exposures smoking behavior									
138092	Y	lung cancer	CANCER	CAN	Lung Neoplasms	9	9q22.3	XPA	99477011	99499460		Vogel, U.  et al. 2005	15837542				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2		Denmark	CDC GDPinfo	7507	Hs.591907			Cancer letters. 2005 May;222(1):67-74	Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer.		278700	23915	2	2005	We found that XPA A23G and XPC Lys939Gln polymorphisms may be risk factors for lung cancer and evidence that positive interactions between the polymorphisms in XPA/XPD and XPC/XPD may occur.	Case:265 lung cancer cases:Cohort:272 individuals used for comparison from 54,220 members of a Danish prospective cohort study										
138093		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	9	9q22.3	XPA	99477011	99499460		Popanda, O.  et al. 2004	15333465				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Carcinogenesis. 2004 Dec;25(12):2433-41	Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer		278700	25779	2	2004	These results indicate that lung cancer risk is only moderately increased by single DNA repair gene variants investigated but it is considerably enhanced by specific combinations of variant alleles. Analyses of additional DNA repair gene interactions in larger population-based studies are warranted for identification of high risk subjects.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (among them 204 adenocarcinoma and 212 squamous cell carcinoma)										
138094		cytogenetic studies	OTHER	OTH	Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Pavanello, S.  et al. 2004	15471894				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Carcinogenesis. 2005 Jan;26(1):169-75	Reduced nucleotide excision repair and GSTM1-null genotypes influence anti-B[a]PDE-DNA adduct levels in mononuclear white blood cells of highly PAH-exposed coke oven workers.		278700	25780	2	2004	The modulation of anti-B[a]PDE-DNA adducts in the LMF by GSTM1-null and some low-activity NER genotypes may be considered as a potential genetic susceptibility factor capable of modulating individual responses to PAH (B[a]P) genotoxic exposure and the consequent risk of cancer in coke oven workers.	Cohort 67 Polish coke overn workers 	polycyclic aromatic hydrocarbons smoking (tobacco)									
138095		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Weiss, J. M.  et al. 2005	16284373				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		278700	27350	2	2005												
138097		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	9	9q22.3	XPA	99477011	99499460			16393248				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		278700	27883	2	2006			alcohol smoking (tobacco)									
138098		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	9	9q22.3	XPA	99477011	99499460		Stoehlmacher, J.  et al. 2004	15213713				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		278700	27884	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
138099		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	9	9q22.3	XPA	99477011	99499460		Zienolddiny, S.  et al. 2005	16195237				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		278700	28478	2	2005												
138100	N	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		Wang, Y. G.  et al. 2003	14690560				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Chinese		CDC GDPinfo	7508	Hs.475538			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2003 Nov;25(6):555-7	[Poly(AT) polymorphism in DNA repair gene XPC and lung cancer risk]		278720	14799	2	2003	 Our findings indicate that the XPC PAT polymorphism may not be associated with risk of lung cancer in the Chinese population.	Control:509:controls;Case:597 Chinese patients with lung cancer	smoking (tobacco)									
138101	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		Marin, M. S.  et al. 2004	15533908	Poly (AT) polymorphism in intron 11		intron	Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Spanish	Spain	CDC GDPinfo	7508	Hs.475538			Cancer epidemiology, biomarkers & prevention. 2004 Nov;13(11 Pt 1):1788-93	Poly (AT) polymorphism in intron 11 of the XPC DNA repair gene enhances the risk of lung cancer.		278720	14800	2	2004	In conclusion, our findings support the hypothesis that PAT and intron 11 C/A XPC polymorphisms are linked in the Spanish population and may contribute to the risk of developing lung cancer probably due to a higher frequency of deletion of exon 12 and reduced DNA repair capacity of the XPC protein.	Case:359 newly diagnosed lung cancer patients:Spain;Control:375 control subjects matched on age, sex, and catchment:area	smoking (tobacco)									
138102	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Lee, G. Y.  et al. 2005	15729698				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Korea	CDC GDPinfo	7508	Hs.475538			International journal of cancer. Journal international du cancer. 2005 Jul;115(5):807-13	XPC polymorphisms and lung cancer risk.		278720	14801	2	2005	These results suggest that XPC polymorphisms/haplotypes may contribute to genetic susceptibility for lung cancer.	Case:432 lung cancer patients;Control:432 healthy controls frequency-matched for age and sex										
138103	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Xeroderma Pigmentosum|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Blankenburg, S.  et al. 2005	15731165				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Germany	CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2005 Jun;26(6):1085-90	Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: acase-control study.		278720	14802	2	2005	The results of our case-control study support the hypothesis that the intron 9 PAT+, intron 11 -6A, exon 15 2920C haplotype may contribute to the risk of developing cutaneous melanoma by increasing the rate of an alternatively spliced XPC mRNA isoform that skips exon 12 and leads to reduced DNA repair. Our results should be validated in independent samples in order to guard against false positive findings.	Case:294 Caucasian patients with cutaneous melanoma:Germany;Control:375 hospital-based healthy cancer-free sex-matched Caucasian controls from the same area										
138104	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|DNA Damage	3	3p25	XPC	14161648	14195143		Nelson, H. H.  et al. 2005	15863269				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Cancer letters. 2005 May;222(2):205-9	The XPC poly-AT polymorphism in non-melanoma skin cancer.		278720	14803	2	2005	These results suggest that the XPC PAT+polymorphism does not play a major role in non-melanoma skin cancer, but that it may slightly modify the risk of SCC among individuals with a phenotype which results in low UV-DNA adduct burdens. These results require further confirmation.	Case non-melanoma skin cancer cases New Hampshire;Control:controls										
138105	N	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Sak, S. C.  et al. 2005	15886698	The polyAT, intronic IVS11-6 and Lys939Gln		intron	Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			British journal of cancer. 2005 Jun;92(12):2262-5	The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder.		278720	14804	2	2005	Using logistic regression adjusting for smoking, occupational and family history, neither the heterozygote nor the homozygote variants of these polymorphisms were associated with increased bladder cancer risk (adjusted odds ratio [95% confidence interval] for heterozygote 0.82 [0.63-1.07], 0.82 [0.63-1.08] and 0.83 [0.63-1.08] for PolyAT, IVS11-6 and Lys939Gln, respectively and homozygote variant, 0.98 [0.68-1.42], 0.99 [0.69-1.43] and 1.01 [0.70-1.46]). Moreover, we did not find any significant interaction between these XPC polymorphisms and environmental exposure to cigarette smoking and occupational carcinogens.	Case:547 transitional cell carcinoma of the bladder cases;Control:9 cancer-free controls	occupational exposure smoking (tobacco)									
138107		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	3	3p25	XPC	14161648	14195143		Yang, M.  et al. 2005	15657918				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Korea	CDC GDPinfo	7508	Hs.475538			Environmental and molecular mutagenesis. 2005 May;45(4):374-9	Associations between XPC expression, genotype, and the risk of head and neck cancer		278720	20199	2	2005	In conclusion, the XPC-PAT polymorphism had no effect on XPC expression or SCCHN risk. However, XPC expression may influence SCCHN risk.	Case:73 Korean squamous cell carcinoma of the head and neck:patients;Control:82:controls										
138108	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Hu, Z.  et al. 2005	15700316				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Chinese	China	CDC GDPinfo	7508	Hs.475538			International journal of cancer. Journal international du cancer. 2005 Jun;115(3):478-83	DNA repair gene XPC genotypes/haplotypes and risk of lung cancer in a Chinese population.		278720	20200	2	2005	These findings indicate that XPC exonic variants may contribute to the risk of lung cancer in the Chinese population, and these variant genotypes may modulate the risk of lung cancer associated with smoking.	Case:320 Chinese lung cancer patients;Control:322 age and sex frequency-matched cancer-free controls	smoking (tobacco)									
138109		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	3	3p25	XPC	14161648	14195143		Yuan, P.  et al. 2005	16061005				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Zhonghua yi xue za zhi. 2005 Apr;85(14):972-5	[Polymorphisms in nucleotide excision repair genes XPC and XPD and clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer]		278720	23916	2	2005	 These results suggest that genetic polymorphisms in nucleotide excision repair might be associated with clinical response to platinum-based chemotherapy.		chemotherapy									
138110		DNA repair capacity	OTHER	OTH	Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Qiao, Y.  et al. 2002	11872635				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2002 Feb;23(2):295-9	Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes.		278720	23917	2	2002	We concluded that these NER polymorphisms may modulate DRC and may be useful biomarkers for identifying individuals at risk of developing cancer.	Cohort 102 healthy non-Hispanic white subjects 										
138111		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	3	3p25	XPC	14161648	14195143		Casson, A. G.  et al. 2005	15878910				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2005 Sep;26(9):1536-41	Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma		278720	23918	2	2005	We conclude that  the malignant phenotype probably results from a summation of polymorphic nucleotide excision repair genes showing opposing effects (an increased risk of XPC versus a protective effect of XPD). The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. As GERD and BE are highly prevalent in the general population, this protective effect may well explain why only a fraction of individuals with GERD and BE progress into invasive EADC.	Case:126/125/56 patients with gastroesophageal reflux disease (n=126), Barrett esophagus (n=125) and esophageal:adenocarcinoma (n=56);Control:95 strictly asymptomatic healthy individuals										
138112		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Xeroderma Pigmentosum	3	3p25	XPC	14161648	14195143		Blankenburg, S.  et al. 2004	15494739				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			European journal of human genetics. 2005 Feb;13(2):253-5	No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.		278720	23919	2	2004	We found no association of the homozygous 1580A, 1601C, 2166A, and 3507G genotypes with increased risks of melanoma. Exploratory analyses of subgroups of melanoma patients compared to all controls indicated no association of these genotypes with increased risks for development of multiple primary melanomas (n=28), a negative family history for melanoma (n=277), melanomas in individuals with a low number of nevi (n=273), melanomas in individuals older than 55 years (n=142), and melanomas thicker than 1 mm (n=126).	Case:294 hospital-based Caucasian patients with malignant:melanoma;Control:375 healthy control individuals from the same area matched by sex										
138113		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	3	3p25	XPC	14161648	14195143			16351803				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Ai zheng. 2005 Dec;24(12):1510-3	[Correlation of Genetic Polymorphisms in Nucleotide Excision Repair System to Sensitivity of Advanced Non-Small Cell Lung Cancer Patients to Platinum-based Chemotherapy.]		278720	25781	2	2005	 The genetic polymorphisms of XPC-PAT, XPD Lys751Gln, and ERCC1 C8092A in nucleotide excision repair system may be associated with sensitivity of NSCLC patients to platinum-based chemotherapy.		chemotherapy									
138115		cytogenetic studies	OTHER	OTH		3	3p25	XPC	14161648	14195143		Kuricova, M.  et al. 2005	15992842				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Toxicology and applied pharmacology. 2005 Sep;207(2 Suppl):302-9	DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity.		278720	25783	2	2005	Adhesion molecules sL-selectin and sICAM-1 were associated with XPC genotype (P < 0.05). Individual susceptibility may be reflected in genotoxic and immunotoxic responses to environmental and occupational exposures to xenobiotics.		styrene									
138116		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143			16373199				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Thai		CDC GDPinfo	7508	Hs.475538			International journal of hygiene and environmental health. 2006 ;209(1):21-9	Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand		278720	25784	2	2006			alcohol betel quid smoking (tobacco)									
138117		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p25	XPC	14161648	14195143		Zhang, L.  et al. 2005	16002061				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Clinica chimica acta; international journal of clinical chemistry. 2005 Sep;359(2-Jan):150-5	Single nucleotide polymorphisms for DNA repair genes in breast cancer patients.		278720	25785	2	2005	 The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.											
138118	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		Vogel, U.  et al. 2005	15837542				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Denmark	CDC GDPinfo	7508	Hs.475538			Cancer letters. 2005 May;222(1):67-74	Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer.		278720	25786	2	2005	We found that XPA A23G and XPC Lys939Gln polymorphisms may be risk factors for lung cancer and evidence that positive interactions between the polymorphisms in XPA/XPD and XPC/XPD may occur.	Case:265 lung cancer cases:Cohort:272 individuals used for comparison from 54,220 members of a Danish prospective cohort study										
138119		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p25	XPC	14161648	14195143		Forsti, A.  et al. 2004	15010895				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Poland|Finland	CDC GDPinfo	7508	Hs.475538			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		278720	26753	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
138120		cytogenetic studies	OTHER	OTH	Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Pavanello, S.  et al. 2004	15471894				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2005 Jan;26(1):169-75	Reduced nucleotide excision repair and GSTM1-null genotypes influence anti-B[a]PDE-DNA adduct levels in mononuclear white blood cells of highly PAH-exposed coke oven workers.		278720	26754	2	2004	The modulation of anti-B[a]PDE-DNA adducts in the LMF by GSTM1-null and some low-activity NER genotypes may be considered as a potential genetic susceptibility factor capable of modulating individual responses to PAH (B[a]P) genotoxic exposure and the consequent risk of cancer in coke oven workers.	Cohort 67 Polish coke overn workers 	polycyclic aromatic hydrocarbons smoking (tobacco)									
138121	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	3	3p25	XPC	14161648	14195143		Millikan, R. C.  et al. 2005	16258177				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2005	Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the GenesEnvironment and Melanoma study.		278720	27352	2	2005												
138122		lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		Shen, M.  et al. 2005	15849729				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Chinese		CDC GDPinfo	7508	Hs.475538			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):768-73	Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.		278720	27672	2	2005	In summary, our results suggest that genetic variants in genes involved in the NER pathway may play a role in lung cancer susceptibility in Xuan Wei. However, due to the small sample size, additional studies are needed to evaluate these associations within Xuan Wei and in other populations with substantial environmental exposure to PAHs.	Case:122 incident primary lung cancer cases Xuan Wei, China;Control:122 individually matched controls										
138123		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Cell Transformation, Neoplastic|DNA Damage|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Weiss, J. M.  et al. 2005	16284373				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2524-30	Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer.		278720	27673	2	2005												
138124		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	3	3p25	XPC	14161648	14195143			16393248				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		278720	28028	2	2006			alcohol smoking (tobacco)									
138125		cytogenetic studies	OTHER	OTH	DNA Damage	3	3p25	XPC	14161648	14195143		Naccarati, A.  et al. 2005	16043197				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		278720	28130	2	2005												
138126		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Festa, F.  et al. 2005	15914210				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		278720	28131	2	2005												
138127		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	3	3p25	XPC	14161648	14195143		Sanyal, S.  et al. 2003	14688016				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		278720	28132	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
138128		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Sturgis, E. M.  et al. 2002	11981277				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		278720	28274	2	2002	Review article											
138129	Y	angioedema	CARDIOVASCULAR	CARD	Angioedema|Angioedema	X	Xq25	XPNPEP2	128700626	128731206		Duan, Q. L.  et al. 2005	16175507				X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003399.5			CDC GDPinfo	7512	Hs.170499			American journal of human genetics. 2005 Oct;77(4):617-26	A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.		300145	20201	2	2005												
138130	Y	cancer	CANCER	CAN	Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Price EA et al. 1997	9542526				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			KGB	7515	Hs.98493			Somatic cell and molecular genetics. 1997 Jul;23(4):237-47	Rare microsatellite polymorphisms in the DNA repair genes XRCC1 XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity.		194360	6532	1	1997												
138131		hepatitis B-related hepatocellular carcinoma	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Yu MW 2003	14519756				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			KGB	7515	Hs.98493			Journal of the National Cancer Institute. 2003 Oct;95(19):1485-8	Polymorphisms in XRCC1 and glutathione S-transferase genes and hepatitis B-related hepatocellular carcinoma.		194360	6533	1	2003												
138133	N	malignant lymphoma	CANCER	CAN	Lymphoma, B-Cell, Marginal Zone|Lymphoma, Follicular	19	19q13.2	XRCC1	48739303	48771555		Matsuo K 2004	15104288	Gln399Arg			X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Japanese	Japan	KGB	7515	Hs.98493			Cancer genetics and cytogenetics. 2004 Feb;149(1):77-80	Lack of association between DNA base excision repair gene XRCC1 Gln399Arg polymorphism and risk of malignant lymphoma in Japan.		194360	6535	1	2004												
138134		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Rybicki BA 2004	14744728				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	caucasian		KGB	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):23-9	DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer.		194360	6536	1	2004												
138135	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Neoplasm Metastasis|DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Stoehlmacher, J.  et al. 2001	11712813				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Anticancer research. 2001 Jul-Aug;21(4B):3075-9	A polymorphism of the XRCC1 gene predicts for response to platinum based treatment in advanced colorectal cancer		194360	14808	2	2001	The data suggest that the polymorphism in exon 10 of the XRCC1 gene may be associated with resistance to oxaliplatin/5-FU chemotherapy in advanced colorectal cancer.	Cohort patients with metastatic colorectal cancer 	5-flurouracil oxaliplatin									
138136		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Li, Y.  et al. 2003	14602524				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Biomarkers. 2003 Sep-Oct;8(5):408-14	A common polymorphism in XRCC1 as a biomarker of susceptibility for chemically induced genetic damage.		194360	14810	2	2003	These preliminary results suggest that a common polymorphism in a DNA repair gene can be an important biomarker of susceptibility for chemically induced genetic damage.	Cohort 211 French vinyl chloride workers 										
138137	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Shu, X. O.  et al. 2003	14693738				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese	China	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1462-7	A population-based case-control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer.		194360	14811	2	2003	The overall results of the study suggest that Arg399Gln polymorphism of the XRCC1 gene alone may not play a substantial role in the risk of breast cancer among Chinese women.	Case:1088 Chinese breast cancer patients from the population-based Shanghai Breast Cancer Study;Control:1822 community controls										
138138	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Tae, K.  et al. 2004	15252855				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Korean	Korea	CDC GDPinfo	7515	Hs.98493			International journal of cancer. Journal international du cancer. 2004 Sep;111(5):805-8	Association of DNA repair gene XRCC1 polymorphisms with head and neck cancer in Korean population.		194360	14813	2	2004	When considering a relatively small number of cases (n = 147) and controls (n = 168) in our study, larger studies are needed to validate the genetic effects of XRCC1 polymorphisms in Asian populations. In conclusion, the result from our study provides additional evidence of an association of the XRCC1 polymorphism (Arg194Trp) with SCCHN as markers of genetic susceptibility in the Korean population.	Case:147 head and neck cancer cases:Korea;Control:168:controls										
138139		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Kelsey, K. T.  et al. 2004	15298955	Asp312Asn			X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2004 Aug;13(8):1337-41	A Population-Based Case-Control Study of the XRCC1 Arg399Gln Polymorphism and Susceptibility to Bladder Cancer		194360	14814	2	2004	Our data are consistent with a potential role of the XRCC1 Arg399Gln polymorphism in bladder cancer susceptibility and further suggest that there may be DNA lesions important in bladder carcinogenesis, repaired by the base excision repair mechanism, that are not directly associated with tobacco smoking.	Case bladder cancer cases;Control:controls	smoking (tobacco)									
138140		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Wang, Z. H.  et al. 2004	15301704				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Ai zheng. 2004 Aug;23(8):865-8	[Single nucleotide polymorphisms in XRCC1 and clinical response to platin-based chemotherapy in advanced non-small cell lung cancer]		194360	14815	2	2004	 Polymorphisms in the XRCC1 gene may have significant impact on the response of NSCLC patients to platin-based chemotherapy.	Cohort 105 patients with advanced non-small cell lung cancer 	carboplatin cisplatin									
138141		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Zhu, Q. X.  et al. 2004	15555397				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Zhonghua liu xing bing xue za zhi. 2004 Aug;25(8):702-5	[Genetic polymorphisms in X-ray repair cross-complementing gene 1 and susceptibility to papillary thyroid carcinoma]		194360	14816	2	2004	 The Gln/Gln genotype at XRCC1 Arg399Gln site and negative life events significantly increased while X-irradiation history decreased the risk of developing PTC.	Case:105 cases with papillary thyroid carcinoma;Control:105:controls										
138142	Y	benzene toxicity	METABOLIC	MET	Chronic Disease	19	19q13.2	XRCC1	48739303	48771555		Zhang, Z.  et al. 2004	15612468				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Wei sheng yan jiu. 2004 Sep;33(5):521-7	[Relation of genetic polymorphism of XRCC1 with risks of chronic benzene poisoning]		194360	14817	2	2004	 The risk of BP for subjects carrying XRCC1 c.194Arg/Trp + Trp/Trp genotypes may decrease while for individuals carrying XRCC1 c.280Arg/His + His/His genotypes may increase.	Case:152 benzene poisoning patients;Control:152 workers occupationally exposed to benzene without poisoning manifestations										
138144	Y	cytogenetic studies	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Leng, S. G.  et al. 2005	15938843				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):159-63	[Association of XRCC1 polymorphisms and chromosomal damage levels in coke-oven workers]		194360	14822	2	2005	 The genetic polymorphisms of XRCC1 gene could influence the chromosome damage levels in coke-oven workers.											
138145	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Hu, Z.  et al. 2005	15970793	(-77T>C)		promoter	X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Pharmacogenetics and genomics. 2005 Jul;15(7):457-63	A promoter polymorphism (-77T>C) of DNA repair gene XRCC1 is associated with risk of lung cancer in relation to tobacco smoking.		194360	14823	2	2005			smoking (tobacco)									
138146	Y	leukemia	CANCER	CAN		19	19q13.2	XRCC1	48739303	48771555		Zhu, R.  et al. 2005	16111035				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Wei sheng yan jiu. 2005 May;34(3):300-2	[Association of genetic polymorphism of XRCC1 with susceptibility to acute childhood leukemia]		194360	14826	2	2005	 Polymorphism of XRCC1 gene may contribute to the higher risk of childhood leukemia.											
138147		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Butkiewicz, D.  et al. 2001	11285194				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		United States|Poland|Denmark	CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2001 Apr;22(4):593-7	Genetic polymorphisms in DNA repair genes and risk of lung cancer		194360	14829	2	2001	Our results indicate that these polymorphisms in the XPD gene should be investigated further for the possible attenuation of DNA repair and apoptotic functions and that additional molecular epidemiological studies are warranted to extend these findings.	Case:96 non-small-cell lung cancer cases;Control:96 healthy controls matched for age, gender and cigarette smoking	smoking (tobacco)									
138148		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Matullo, G.  et al. 2001	11304692				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			International journal of cancer. Journal international du cancer. 2001 May;92(4):562-7	DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study.		194360	14830	2	2001	Our results suggest that bladder-cancer risk can be genetically modulated by XRCC3, which may repair DNA cross-link lesions produced by aromatic amines and other environmental chemicals.	Case:124 bladder-cancer patients;Control:85 hospital controls (urological and non-urological)	smoking (tobacco)									
138149		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Stern, M. C.  et al. 2002	12223443				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2002 Sep;11(9):939-43	DNA repair gene XRCC3 codon 241 polymorphism, its interaction with smoking and XRCC1 polymorphisms, and bladder cancer risk.		194360	14831	2	2002	In this study, we found some evidence for a gene-gene interaction between the XRCC1 codon 194 and XRCC3 codon 241 polymorphisms (P = 0.09) and some support for a possible gene-gene-smoking three-way interaction (P = 0.08).	Control:209 controls frequency matched to cases on age, sex, and ethnicity;Case:233 bladder cancer cases		XRCC1	codon 194	XRCC3	codon 241			Y	smoking (tobacco)	bladder cancer
138150	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Disease Progression	19	19q13.2	XRCC1	48739303	48771555		Krupa, R.  et al. 2004	15354414				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Journal of experimental & clinical cancer research. 2004 Jun;23(2):285-94	An association of polymorphism of DNA repair genes XRCC1 and XRCC3 with colorectal cancer		194360	14835	2	2004	Both polymorphisms were not associated with colorectal cancer progression.	Control:100:controls;Case:51 colorectal cancer cases										
138151	N	endometrial cancer; cervical cancer; radiosensitivity, clinical	CANCER	CAN	Genital Neoplasms, Female|Radiation Injuries|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		De Ruyck, K.  et al. 2005	16137195			3'untranslated	X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasic	Belgium	CDC GDPinfo	7515	Hs.98493			Radiation research. 2005 Sep;164(3):237-44	Microsatellite polymorphisms in DNA repair genes XRCC1, XRCC3 and XRCC5 in patients with gynecological tumors: association with lateclinical radiosensitivity and cancer incidence.		194360	14842	2	2005												
138152		cytogenetic studies	OTHER	OTH	Translocation, Genetic	19	19q13.2	XRCC1	48739303	48771555		Wilding, C. S.  et al. 2005	15680411				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2005 Feb;570(1):137-45	DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers		194360	14846	2	2005	A positive interaction observed between genotype (individuals with at least one allele >/=20 repeat units) at a microsatellite locus in the XRCC3 gene and smoking status should be interpreted cautiously because interactions were investigated for seven polymorphisms and two exposures. Nonetheless, further research is warranted to examine whether this DNA repair gene variant might be associated with a sub-optimal repair response to smoking-induced DNA damage and hence an increased frequency of translocations.	Cohort 291 retired radiation workers who had received cumulative occupational external radiation doses of between 0 and 1873mSv 	radiation									
138153		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Han, J.  et al. 2003	14679022				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer research. 2003 Dec;63(23):8536-41	A prospective study of XRCC1 haplotypes and their interaction with plasma carotenoids on breast cancer risk.		194360	20202	2	2003	The findings of the effect modification of the Arg(194)Trp on the relations of plasma alpha- and beta-carotene levels with breast cancer risk suggest a potential protective effect of carotenoids in breast carcinogenesis by preventing oxidative DNA damage.	Case:1,004 incident breast cancer cases;Control:1,385:controls										
138154		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Han, J.  et al. 2004	15066914				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		United States	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2004 Apr;13(4):520-4	Interaction between genetic variations in DNA repair genes and plasma folate on breast cancer risk.		194360	20210	2	2004	Although none of the statistical tests for interaction was significant, these data give some support for the hypothesis that genetic variations in DNA repair genes may modify the relation between plasma folate level and breast cancer risk.	Control:712:controls;Case:712 breast cancer cases from the Nurses' Health Study										
138155	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Ito, H.  et al. 2004	15044328				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Japanese	Japan	CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2004 Aug;25(8):1395-401	Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk		194360	23920	2	2004	These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of lung cancer attributable to cigarette smoking exposure.	Case:178 Japanese incident lung cancer cases;Control:449 age- and sex-matched controls	smoking (tobacco)									
138156	Y	lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Shen, M.  et al. 2005	15816625				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese	China	CDC GDPinfo	7515	Hs.98493			Anticancer research. 2005 Jan-Feb;25(1B):537-42	Polymorphisms in the DNA base excision repair genes APEX1 and XRCC1 and lung cancer risk in Xuan Wei, China.		194360	23921	2	2005	We found genetic variants in APEX1 and XRCC1 may alter the risk of lung cancer in a special population in China.	Control:122:controls;Case:122 lung cancer cases Xuan Wei										
138157		cytogenetic studies	OTHER	OTH	Neoplasms|Xeroderma Pigmentosum	19	19q13.2	XRCC1	48739303	48771555		Matullo, G.  et al. 2003	12869411				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Italy	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2003 Jul;12(7):674-7	Combination of DNA repair gene single nucleotide polymorphisms and increased levels of DNA adducts in a population-based study.		194360	23922	2	2003	Our study suggests that the combined effect of multiple variant alleles may be more important than the investigation of single SNP in modulating DNA repair capacity.	Cohort 628 Italian healthy individuals belonging to the prospective European project "European Prospective Investigation into Cancer and Nutrition." 										
138158		leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer	CANCER	CAN	Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16308313				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. Epub 2005 Nov	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study		194360	23923	2	2005												
138159		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Gao, W. M.  et al. 2003	12844488				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2003 Oct;24(10):1671-6	Association of the DNA repair gene XPD Asp312Asn polymorphism with p53 gene mutations in tobacco-related non-small cell lung cancer.		194360	23924	2	2003	These results suggest that individuals who smoke and have the XPD codon 312 Asp/Asp genotype may be at a greater risk of p53 mutations, especially if combined with other polymorphisms that may result in deficient DNA repair.	Cohort 204 smokers with non-small cell lung cancer 	smoking (tobacco)									
138160	Y	cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Leng, S.  et al. 2004	15764301				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Biomarkers. 2004 Jul-Oct;9(5-Apr):395-406	Associations between XRCC1 and ERCC2 polymorphisms and DNA damage in peripheral blood lymphocyte among coke oven workers.		194360	23925	2	2004	The study showed that the alkaline comet assay is a suitable biomarker in the detection of DNA damage among coke-oven workers and it suggested that the A allele of G27466A polymorphism of XRCC1 may be associated with decreased DNA repair capacity toward PAH-induced base damage and strand breaks.	Case:143 coke-oven workers;Control:50 non-coke-oven workers	polycyclic aromatic hydrocarbons									
138161		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Carcinogenesis. 2006 May;27(5):1030-7.	16311243				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2006	Concordance of multiple analytical approaches demonstrates a complex relationship between DNA repair gene SNPs, smoking, and bladder cancer susceptibility		194360	23926	2	2005	These results support the hypothesis that common polymorphisms in DNA repair genes modify bladder cancer risk and emphasize the need for a multifaceted statistical approach to identify gene-gene and gene-environment interactions.		smoking (tobacco)									
138162	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Smith, T. R.  et al. 2003	14652281				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1200-4	DNA-repair genetic polymorphisms and breast cancer risk.		194360	23927	2	2003	We provide evidence that variants of XRCC1, XRCC3, and ERCC4/XPF genes, particularly in combination, contribute to breast cancer susceptibility.	Case:253 breast cancer cases;Control:268:controls										
138163		oral cancer; leukoplakia	CANCER	CAN	Leukoplakia, Oral|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Majumder, M.  et al. 2005	16172217				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2106-12	Increased risk of oral leukoplakia and cancer among mixed tobacco users carrying XRCC1 variant haplotypes and cancer among smokers carrying two risk genotypes: one on each of two loci, GSTM3 andXRCC1 (Codon 280).		194360	23928	2	2005												
138164		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Ritchey, J. D.  et al. 2005	16030105				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		China	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1703-9	Genetic variants of DNA repair genes and prostate cancer: a population-based study.		194360	23929	2	2005			insulin reistance									
138166	Y	cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Aka, P.  et al. 2004	15491645				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2004 Nov;556(2-Jan):169-81	Are genetic polymorphisms in OGG1, XRCC1 and XRCC3 genes predictive for the DNA strand break repair phenotype and genotoxicity in workers exposed to low dose ionising radiations?		194360	23931	2	2004	The analysis confirms that MN frequencies are reliable biomarkers for the assessment of genetic effects in workers exposed to ionising radiation (IR). A combined analysis of the three genotypes, OGG1, XRCC1 and XRCC3 polymorphisms is advised in order to assess individual susceptibility to ionising radiation. As an alternative or complement, the in vitro DNA strand break repair phenotype which integrates several repair pathways is recommended. Smokers with OGG1 polymorphisms who are exposed to ionising radiation represent a specific population requiring closer medical surveillance because of their increased mutagenic/carcinogenic risk.	Case workers exposed to ionising radiation;Control:controls	age smoking (tobacco)									
138167	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Zhang, X.  et al. 2005	15705867				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer research. 2005 Feb;65(3):722-6	Polymorphisms in DNA base excision repair genes ADPRT and XRCC1 and risk of lung cancer.		194360	23932	2	2005	In conclusion, the ADPRT Val762Ala polymorphism plays an important role in smoking-related lung cancer and the XRCC1 Arg399Gln polymorphism may serve as a risk modifier.	Case:1,000 lung cancer cases;Control:1,000 cancer-free controls	smoking (tobacco)									
138168		radiotherapy sensitivity	UNKNOWN	UNK	Breast Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Chang-Claude, J.  et al. 2005	16000577				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Clinical cancer research. 2005 Jul;11(13):4802-9	Association between polymorphisms in the DNA repair genes, XRCC1, APE1, and XPD and acute side effects of radiotherapy in breast cancer patients.		194360	25787	2	2005	 The XRCC1 399Gln or APE1 148Glu alleles may be protective against the development of acute side effects after radiotherapy in patients with normal weight.		body mass									
138169		leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16308313				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2005	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study.		194360	25788	2	2005												
138170	Y	sister-chromatid exchanges	UNKNOWN	UNK	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Lei, Y.  et al. 2002	12160895				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2002 Aug;519(2-Jan):93-101	Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers.		194360	25789	2	2002	Our results support previous epidemiological studies that XRCC1 may play a role in cigarette smoking-induced lung cancer.	Cohort 61 workers without significant exposure to mutagens were recruited. Questionnaires were completed to obtain detailed occupational, smoking, and medical histories. SCE frequency in periphe 	smoking (tobacco)									
138171		soft tissue sarcoma	UNKNOWN	UNK	Sarcoma	19	19q13.2	XRCC1	48739303	48771555		Berwick, M.  et al. 2004	15459223				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Journal of clinical oncology. 2004 Oct;22(19):3997-4001	Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma.		194360	25790	2	2004	 Further study of the role of the AhR polymorphism is warranted.	Cohort 120 newly diagnosed patients with soft tissue sarcoma 										
138172		stomach cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Huang, W. Y.  et al. 2005	15802298				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Polish	Poland	CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2005 Aug;26(8):1354-9	Selected DNA repair polymorphisms and gastric cancer in Poland.		194360	25791	2	2005	Selected DNA repair polymorphisms did not have independent effects on gastric cancer risk, however, they may modify smoking- and possible diet-related risks for this disease. There results need replication in larger epidemiological studies of gastric cancer.	Case:281 incident gastric cancer cases:Warsaw, Poland;Control:390:controls	diet smoking (tobacco)									
138173		cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Rzeszowska-Wolny, J.  et al. 2005	16038584				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Radiation research. 2005 Aug;164(2):132-40	Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage induced by gamma radiation and its repair in lymphocytes in vitro.		194360	25792	2	2005												
138174		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Huang, W. Y.  et al. 2005	16030112				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1747-53	Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer: apooled analysis.		194360	25793	2	2005			alcohol smoking (tobacco)									
138176		lung cancer	CANCER	CAN	Neoplasms|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Hung, R. J.  et al. 2005	16221808				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			American journal of epidemiology. 2005 Nov;162(10):925-42	Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review.		194360	25795	2	2005			smoking (tobacco)									
138177		benzene toxicity	METABOLIC	MET	DNA Damage|Chronic Disease|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Zhang, Z.  et al. 2005	16284386				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese	China	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2614-9	Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population.		194360	25796	2	2005												
138179		DNA repair capacity	UNKNOWN	UNK	Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Qiao, Y.  et al. 2002	11872635				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2002 Feb;23(2):295-9	Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes.		194360	25798	2	2002	We concluded that these NER polymorphisms may modulate DRC and may be useful biomarkers for identifying individuals at risk of developing cancer.	Cohort 102 healthy non-Hispanic white subjects 										
138180		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	19	19q13.2	XRCC1	48739303	48771555		Casson, A. G.  et al. 2005	15878910				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2005 Sep;26(9):1536-41	Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma		194360	25799	2	2005	We conclude that  the malignant phenotype probably results from a summation of polymorphic nucleotide excision repair genes showing opposing effects (an increased risk of XPC versus a protective effect of XPD). The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. As GERD and BE are highly prevalent in the general population, this protective effect may well explain why only a fraction of individuals with GERD and BE progress into invasive EADC.	Case:126/125/56 patients with gastroesophageal reflux disease (n=126), Barrett esophagus (n=125) and esophageal:adenocarcinoma (n=56);Control:95 strictly asymptomatic healthy individuals										
138181		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Matullo, G.  et al. 2005	16284380				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		194360	26755	2	2005			smoking (tobacco)									
138182		smoking genotoxic effects	UNKNOWN	UNK		19	19q13.2	XRCC1	48739303	48771555		Hoffmann, H.  et al. 2005	16037119				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutagenesis. 2005 Sep;20(5):359-64	Genetic polymorphisms and the effect of cigarette smoking in the comet assay.		194360	26756	2	2005												
138183	Y	pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Cocarcinogenesis|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Duell, E. J.  et al. 2002	12183419				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer research. 2002 Aug;62(16):4630-6	A Population-based Study of the Arg399Gln Polymorphism in X-Ray Repair Cross- Complementing Group 1 (XRCC1) and Risk of Pancreatic Adenocarcinoma		194360	26757	2	2002	Our results suggest that the XRCC1 399Gln allele is a potentially important determinant of susceptibility to smoking-induced pancreatic cancer. Our findings, including stronger associations and interactions among women, require replication in additional study populations.	Case:309 cases of pancreatic adenocarcinoma San Francisco Bay Area, California:1994-2001;Control:964:controls	obesity smoking (tobacco)									
138184		liver cancer	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Kirk, G. D.  et al. 2005	15734960				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Gambia	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):373-9	Hepatocellular carcinoma and polymorphisms in carcinogen-metabolizing and DNA repair enzymes in a population with aflatoxin exposure and hepatitis B virus endemicity.		194360	26758	2	2005	Our findings suggest that genetic modulation of carcinogen metabolism and DNA repair can alter susceptibility to HCC and that these effects may be modified by environmental factors.	Case:216 hepatocellular cancer cases Gambia, West Africa;Control:408 frequency-matched controls with no clinically apparent liver disease	peanuts									
138185	Y	cytogenetic studies	OTHER	OTH	Chromosome Aberrations	19	19q13.2	XRCC1	48739303	48771555		Tuimala, J.  et al. 2004	15450429				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2004 Oct;554(2-Jan):319-33	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: effects on levelsof sister chromatid exchanges and chromosomal aberrations		194360	26759	2	2004	Our results are in line with earlier findings on the influence of NAT2, GSTT1, and GSTM1 polymorphisms on the level of lymphocyte chromosome damage and suggest that also XRCC1 polymorphism affects CA frequencies, thus apparently influencing DNA repair phenotype. It remains to be examined whether these or other genetic polymorphisms could explain the observed cancer risk predictivity of high CA frequency.	Cohort 145/6 peripheral lymphocytes of 145 (CAs) and 60 (SCEs) healthy Caucasians 										
138186		neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	19	19q13.2	XRCC1	48739303	48771555		Olshan, A. F.  et al. 2005	15887293				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			American journal of medical genetics Part A. 2005 Jun;135(3):268-73	Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.		194360	26760	2	2005	This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.	Case:250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program;Control:350 non-malformation controls										
138187		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Hao, B.  et al. 2004	15205355				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese		CDC GDPinfo	7515	Hs.98493			Cancer research. 2004 Jun;64(12):4378-84	Identification of Genetic Variants in Base Excision Repair Pathway and Their Associations with Risk of Esophageal Squamous Cell Carcinoma		194360	26761	2	2004	The results suggest that the polymorphisms in five BER genes may be associated with the susceptibility to ESCC in a Chinese population.	Control;Case;Case:419 Chinese patients with newly diagnosed esophageal:cancer;Control:480 healthy controls mathched on age and sex										
138188	Y	radiotherapy response	UNKNOWN	UNK	Breast Neoplasms|Fibrosis	19	19q13.2	XRCC1	48739303	48771555		Andreassen, C. N.  et al. 2003	14643949				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Radiotherapy and oncology. 2003 Nov;69(2):127-35	Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes.		194360	26762	2	2003	 The present study established significant correlations between five SNPs and risk of radiation-induced normal tissue reactions. These findings support the assumption that clinical normal tissue radiosensitivity should be regarded as a phenomenon dependent on the combined effect of variation in several genes and indicate that models based on multiple genetic markers may have the potential to predict normal tissue responses after radiotherapy.	Cohort 41 patients who received post-mastectomy radiotherapy in 1978-1982 										
138189		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Wang, L. E.  et al. 2004	15313891				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer research. 2004 Aug;64(16):5560-3	Polymorphisms of DNA repair genes and risk of glioma.		194360	26763	2	2004	These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.	Case:309 patients with newly diagnosed glioma;Control:342 cancer-free control participants matched on age										
138190		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Popanda, O.  et al. 2004	15333465				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2004 Dec;25(12):2433-41	Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer		194360	26764	2	2004	These results indicate that lung cancer risk is only moderately increased by single DNA repair gene variants investigated but it is considerably enhanced by specific combinations of variant alleles. Analyses of additional DNA repair gene interactions in larger population-based studies are warranted for identification of high risk subjects.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (among them 204 adenocarcinoma and 212 squamous cell carcinoma)										
138191		cytogenetic studies	OTHER	OTH	DNA Damage|Chromosome Aberrations	19	19q13.2	XRCC1	48739303	48771555		Vodicka, P.  et al. 2004	14729591				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2004 May;25(5):757-63	Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and singlestrand breaks in DNA		194360	26765	2	2004	Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes coding DNA repair enzymes.	Cohort a central European population 										
138192		cytogenetic studies	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Kuricova, M.  et al. 2005	15992842				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Toxicology and applied pharmacology. 2005 Sep;207(2 Suppl):302-9	DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity.		194360	26766	2	2005	Adhesion molecules sL-selectin and sICAM-1 were associated with XPC genotype (P < 0.05). Individual susceptibility may be reflected in genotoxic and immunotoxic responses to environmental and occupational exposures to xenobiotics.		styrene									
138193		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555			16373199				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Thai		CDC GDPinfo	7515	Hs.98493			International journal of hygiene and environmental health. 2006 ;209(1):21-9	Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand		194360	26767	2	2006			alcohol betel quid smoking (tobacco)									
138194		melanoma	CANCER	CAN	Melanoma	19	19q13.2	XRCC1	48739303	48771555		Liu, D.  et al. 2005	15709194				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Clinical cancer research. 2005 Feb;11(3):1237-46	Impact of gene polymorphisms on clinical outcome for stage IV melanoma patients treated with biochemotherapy: an exploratory study.		194360	27353	2	2005	 Cytokine gene polymorphisms predicted clinical outcome for advanced melanoma patients who received biochemotherapy. The combined effects of multiple genetic polymorphisms may provide more accurate prognostic information. Additional independent studies are needed to confirm these pilot findings.	Cohort 90 patients with stage IV melanoma treated with biochemotherapy, including cisplatin, vinblastine, and dacarbazine combined with interleukin (IL)-2 and IFN-alpha either with or without tamoxifen 	cisplatin dacarbazine IFN-alpha interleukin (IL)-2 tamoxifen vinblastine									
138195		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	19	19q13.2	XRCC1	48739303	48771555		Tuimala, J.  et al. 2002	12082022				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Hungary	CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		194360	27354	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
138196		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Chan, E. C.  et al. 2005	16157195				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese		CDC GDPinfo	7515	Hs.98493			Cancer genetics and cytogenetics. 2005 Oct;162(1):20-Oct	Polymorphisms of the GSTM1, GSTP1, MPO, XRCC1, and NQO1 genes in Chinese patients with non-small cell lung cancers: relationship with aberrant promotermethylation of the CDKN2A and RARB genes.		194360	27355	2	2005												
138197		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Sigurdson, A. J.  et al. 2004	15113441				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		194360	27356	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
138198	N	radiotherapy	UNKNOWN	UNK	Breast Neoplasms|Radiation Injuries	19	19q13.2	XRCC1	48739303	48771555		Andreassen, C. N.  et al. 2005	15878096				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		194360	27357	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
138199		breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Forsti, A.  et al. 2004	15010895				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Poland|Finland	CDC GDPinfo	7515	Hs.98493			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		194360	27358	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
138200		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	19	19q13.2	XRCC1	48739303	48771555		Harms, C.  et al. 2004	15199549				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		194360	27674	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
138201		leukemia; bladder cancer; radiotherapy	CANCER	CAN	DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Mathonnet, G.  et al. 2003	14625810				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Journal of human genetics. 2003 ;48(12):659-64	Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes		194360	27675	2	2003	The data indicate little interpopulation differentiation in some of these polymorphisms and typical F(ST) values ranging from 10 to 17% at others. Low F(ST) was observed in APEX1 and hMSH3 exon 23 in spite of their relatively high minor allele frequencies, which could suggest the effect of balancing selection. In XRCC1, hMSH3 exon 21 and hMLH1 Africa clusters either with Middle East and Europe or with Southeast Asia, which could be related to the demographic history of human populations, whereby human migrations and genetic drift rather than selection would account for the observed differences.	Cohort groups representing individuals of European, Middle Eastern, African, Southeast Asian and North American descent 										
138202		cytogenetic studies	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Cheng, J.  et al. 2005	15938845				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 May;39(3):164-7	[Association of metabolic and DNA repair enzyme gene polymorphisms and DNA damage in coke-oven workers]		194360	27676	2	2005	 XRCC1 and GSTP1 polymorphisms might influence the susceptibility of DNA damage in occupational PAH-exposed coke-oven workers.											
138203		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16395669				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		194360	27677	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
138205		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Kiffmeyer, W. R.  et al. 2004	14716779				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	7515	Hs.98493			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		194360	27885	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
138206		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16343742				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		194360	27886	2	2005			smoking (tobacco)									
138207		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	19	19q13.2	XRCC1	48739303	48771555		Stoehlmacher, J.  et al. 2004	15213713				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		194360	28029	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
138208		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Sadetzki, S.  et al. 2005	15824172				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Israel	CDC GDPinfo	7515	Hs.98493			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		194360	28208	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
138209		cancer	CANCER	CAN		19	19q13.2	XRCC1	48739303	48771555		Mathijssen, R. H.  et al. 2003	12960109				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		194360	28209	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
138210		cytogenetic studies	OTHER	OTH	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Naccarati, A.  et al. 2005	16043197				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2006 Jan;593(2-Jan):22-31	Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes:Effects on DNA damage.		194360	28210	2	2005												
138211		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Festa, F.  et al. 2005	15914210				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		194360	28211	2	2005												
138212	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Sanyal, S.  et al. 2003	14688016				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		194360	28212	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
138213		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Sturgis, E. M.  et al. 2002	11981277				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		194360	28329	2	2002	Review article											
138214		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	19	19q13.2	XRCC1	48739303	48771555		Krajinovic, M.  et al. 2002	11895912				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		194360	28435	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
138215		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Xing, D.  et al. 2003	12883749				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Chinese	China	CDC GDPinfo	7515	Hs.98493			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		194360	28436	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
138216		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Kiyohara, C.  et al. 2002	12234692				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		194360	28458	2	2002	Review article		smoking (tobacco)									
138217		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Zienolddiny, S.  et al. 2005	16195237				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		194360	28496	2	2005												
138218	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Han J 2004	14578164	G31479A (R188H)			X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			KGB	7516	Hs.129727			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		600375	6538	1	2004	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
138219		lung cancer; skin cancer, non-melanoma	CANCER	CAN	Neoplasms|Skin Neoplasms|Xeroderma Pigmentosum	7	7q36.1	XRCC2	151974519	152004183		Benhamou, S.  et al. 2002	12435843				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Mutagenesis. 2002 Nov;17(6):463-9	ERCC2/XPD gene polymorphisms and cancer risk.		600375	14827	2	2002	Review article		smoking (tobacco)									
138220		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Hu, Z.  et al. 2004	15364127				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Lung cancer (Amsterdam, Netherlands). 2004 Oct;46(1):10-Jan	DNA repair gene XPD polymorphism and lung cancer risk: a meta-analysis.		600375	14828	2	2004	These results support the hypothesis that both the XPD 751 C and 312 A are risk alleles and individuals with the XPD 751 CC and 312 AA genotypes are at higher risk of developing lung cancer. Large multi-center studies with precise design, and stratified/adjusted analyses of the gene-gene (haplotypes) and gene-environment interactions are needed.	Case:3,725 lung cancer cases from 9 individuals case-control:studies;Control:4,152 controls from 9 individual case-control studies										
138221		lung cancer; bladder cancer	CANCER	CAN	Mouth Neoplasms|Pharyngeal Neoplasms|DNA Damage|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Benhamou, S.  et al. 2004	15386379				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			International journal of cancer. Journal international du cancer. 2004 Dec;112(5):901-4	DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract.		600375	14836	2	2004	These findings provide evidence for the view that polymorphisms in DNA repair genes may modify individual susceptibility to smoking-related cancers.	Case:121/129 Caucasian smoking oral/pharynx (n=121) and lanynx (n=129) cancer cases;Control:172 Caucasian smoking noncancer controls										
138222		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Rafii, S.  et al. 2002	12023985				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Human molecular genetics. 2002 Jun;11(12):1433-8	A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer.		600375	20205	2	2002	These results support the hypothesis that subtle variation in DNA repair capacity may influence cancer susceptibility in the population.	Case:521 women with breast cancer;Control:895 control women										
138223		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	7	7q36.1	XRCC2	151974519	152004183		Allan, J. M.  et al. 2004	15339847				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Blood. 2004 Dec;104(13):3872-7	Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy		600375	20206	2	2004	These data suggest that the XPD codon 751 glutamine variant protects against myeloid cell death after chemotherapy.	Cohort 341 elderly patients with acute myeloid leukemia UK 	chemotherapy									
138224		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Han, J.  et al. 2003	14578164				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		600375	23933	2	2003	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
138225		melanoma; skin cancer, non-melanoma	CANCER	CAN	Melanoma|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|DNA Damage|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Han, J.  et al. 2004	15126335				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Cancer research. 2004 May;64(9):3009-13	Polymorphisms in DNA double-strand break repair genes and skin cancer risk.		600375	23934	2	2004	The main effects of these genotypes were essentially null for melanoma risk. This study provides evidence to suggest the role of the DSB repair pathway in skin cancer development, especially for BCC.	Case:219/286/300 melanoma (n=219), squamous cell carcinoma (n=286) and basal cell carcinoma (n=300) cases;Control:873:controls										
138226	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Webb, P. M.  et al. 2005	15734952				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):319-23	Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer.		600375	23935	2	2005	Although there was little statistical power to detect modest increases in risk for the homozygote variant genotypes, particularly for the rare RAD51 and XRCC2 variants, the data suggest that none of these variants play a major role in the etiology of breast or ovarian cancer.	Case:1,456 breast cancer cases;Control:335 controls of similar age distribution to ovarian cancer cases;Case:549 incident ovarian cancer cases:Austrailia;Control:793 age-matched controls										
138227		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Butkiewicz, D.  et al. 2001	11285194				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256		United States|Poland|Denmark	CDC GDPinfo	7516	Hs.129727			Carcinogenesis. 2001 Apr;22(4):593-7	Genetic polymorphisms in DNA repair genes and risk of lung cancer		600375	23936	2	2001	Our results indicate that these polymorphisms in the XPD gene should be investigated further for the possible attenuation of DNA repair and apoptotic functions and that additional molecular epidemiological studies are warranted to extend these findings.	Case:96 non-small-cell lung cancer cases;Control:96 healthy controls matched for age, gender and cigarette smoking	smoking (tobacco)									
138228		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Han, J.  et al. 2004	15066914				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256		United States	CDC GDPinfo	7516	Hs.129727			Cancer epidemiology, biomarkers & prevention. 2004 Apr;13(4):520-4	Interaction between genetic variations in DNA repair genes and plasma folate on breast cancer risk.		600375	23937	2	2004	Although none of the statistical tests for interaction was significant, these data give some support for the hypothesis that genetic variations in DNA repair genes may modify the relation between plasma folate level and breast cancer risk.	Control:712:controls;Case:712 breast cancer cases from the Nurses' Health Study										
138229		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Millikan, R. C.  et al. 2005	16214912				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2326-34	Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.		600375	25800	2	2005			radiation									
138230	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Kuschel, B.  et al. 2002	12023982				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Human molecular genetics. 2002 Jun;11(12):1399-407	Variants in DNA double-strand break repair genes and breast cancer susceptibility.		600375	26768	2	2002	These data provide some evidence that variants in XRCC2 and LIG4 alter breast cancer risk, together with stronger evidence that variants of XRCC3 are associated with risk. If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis.	Control:1826:controls;Case:2205 cases of breast cancer										
138231		soft tissue sarcoma	CANCER	CAN	Sarcoma	7	7q36.1	XRCC2	151974519	152004183		Berwick, M.  et al. 2004	15459223				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Journal of clinical oncology. 2004 Oct;22(19):3997-4001	Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma.		600375	26769	2	2004	 Further study of the role of the AhR polymorphism is warranted.	Cohort 120 newly diagnosed patients with soft tissue sarcoma 										
138233		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	7	7q36.1	XRCC2	151974519	152004183		Matullo, G.  et al. 2005	16284380				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		600375	27359	2	2005			smoking (tobacco)									
138235		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Lee, K. M.  et al. 2005	15958648				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Clinical cancer research. 2005 Jun;11(12):4620-6	Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk.		600375	27887	2	2005	 Our findings suggest that genetic polymorphisms of RAD52, ERCC1, and hMLH1 may be associated with breast cancer risk in Korean women.											
138236		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	7	7q36.1	XRCC2	151974519	152004183		Zienolddiny, S.  et al. 2005	16195237				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDPinfo	7516	Hs.129727			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		600375	28514	2	2005												
138237	Y	melanoma skin cancer	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Winsey SL et al. 2000	11059748				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			KGB	7517	Hs.592325			Cancer research. 2000 Oct;60(20):5612-6	A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.		600675	6539	1	2000	These results may provide further insights into the pathogenesis and the mechanism of UV-radiation induced carcinogenesis as well as having a role in prevention.	Case:125 individuals with malignant melanoma with lesions or staging suggesting a high risk of relapse or metastatic disease;Control:211:individuals.										
138238	N	cutaneous malignant melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	14	14q32.3	XRCC3	103233706	103251549	n	Duan Z et al. 2002	12376526	241Met variant			X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			KGB	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2002 Oct;11(10 Pt 1):1142-3	DNA repair gene XRCC3 241Met variant is not associated with risk of cutaneous malignant melanoma.		600675	6540	1	2002												
138239	Y	cancer	CANCER	CAN	Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Price EA et al. 1997	9542526				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			KGB	7517	Hs.592325			Somatic cell and molecular genetics. 1997 Jul;23(4):237-47	Rare microsatellite polymorphisms in the DNA repair genes XRCC1 XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity.		600675	6541	1	1997												
138241	N	melanoma	CANCER	CAN	Melanoma|Nevus, Pigmented|Skin Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Bertram CG 2004	15009726				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			KGB	7517	Hs.592325			The Journal of investigative dermatology. 2004 Feb;122(2):429-32	An assessment of a variant of the DNA repair gene XRCC3 as a possible nevus or melanoma susceptibility genotype.		600675	6543	1	2004	We found no evidence therefore that the T allele of this XRCC3 polymorphism is indicative of susceptibility to melanoma. There was a marginal relationship with nevus phenotype, but this was no longer statistically significant in multivariate analysis. The previous association between XRCC3 and melanoma may be a result of the choice of control group and we emphasize the need for appropriate choice of controls.	Cohort 475 patients from a cohort enriched for the atypical mole syndrome, of whom 140 had had melanoma Cohort 565 women from a general practice based sample										
138242	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Han J 2004	14578164	A4541G (5'-UTR), A17893G (IVS5-14) and C18067T (T241 M)			X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			KGB	7517	Hs.592325			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		600675	6544	1	2004	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
138243		gastric cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Shen H 2004	15019159	C to T variant (Thr241Met)			X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	chinese	China	KGB	7517	Hs.592325			Cancer letters. 2004 Mar;206(1):51-8	Polymorphisms of DNA repair gene XRCC3 Thr241Met and risk of gastric cancer in a Chinese population.		600675	6545	1	2004												
138244		cytogenetic studies; nitrosamine; 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone; cytotoxicity	OTHER	OTH	DNA Damage|Chromosome Aberrations	14	14q32.3	XRCC3	103233706	103251549		Hill, C. E.  et al. 2005	15887211				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Environmental and molecular mutagenesis. 2005 Jul;46(1):22-9	Gender differences in genetic damage induced by the tobacco-specific nitrosamine NNK and the influence of the Thr241Met polymorphism in the XRCC3 gene.		600675	14838	2	2005			smoking (tobacco)									
138245	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Winsey, S. L.  et al. 2000	11059748				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer research. 2000 Oct;60(20):5612-6	A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.		600675	20207	2	2000	These results may provide further insights into the pathogenesis and the mechanism of UV-radiation induced carcinogenesis as well as having a role in prevention.	Case:125 individuals with malignant melanoma with lesions or staging suggesting a high risk of relapse or metastatic disease;Control:211:individuals.										
138246	N	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Shen, H.  et al. 2002	12115490				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			International journal of cancer. Journal international du cancer. 2002 Jun;99(6):869-72	A variant of the DNA repair gene XRCC3 and risk of squamous cell carcinoma of the head and neck: acase-control analysis.		600675	20208	2	2002	These findings suggest that the variant XRCC3 18067TT genotype may not play a major role in the etiology of SCCHN but may contribute to a subset of SCCHN. Larger studies are needed to verify these findings.	Control:354 frequency-matched cancer-free controls;Case:367 non-Hospanic white patients newly diagnosed with:SCCHN	smoking (tobacco)									
138247	N	melanoma; nevus	CANCER	CAN	Melanoma|Nevus, Pigmented|Skin Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Bertram, C. G.  et al. 2004	15009726				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			The Journal of investigative dermatology. 2004 Feb;122(2):429-32	An assessment of a variant of the DNA repair gene XRCC3 as a possible nevus or melanoma susceptibility genotype.		600675	20209	2	2004	We found no evidence therefore that the T allele of this XRCC3 polymorphism is indicative of susceptibility to melanoma. There was a marginal relationship with nevus phenotype, but this was no longer statistically significant in multivariate analysis. The previous association between XRCC3 and melanoma may be a result of the choice of control group and we emphasize the need for appropriate choice of controls.	Cohort 475 patients from a cohort enriched for the atypical mole syndrome, of whom 140 had had melanoma Cohort 565 women from a general practice based sample 										
138248		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|DNA Damage|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Seedhouse, C.  et al. 2004	15102670				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Clinical cancer research. 2004 Apr;10(8):2675-80	Polymorphisms in genes involved in homologous recombination repair interact to increase the risk of developing acute myeloid leukemia		600675	23938	2	2004	 These results strongly suggest that DNA double-strand breaks and their repair are important in the pathogenesis of both de novo and t-AML.	Control:186 contol subjects;Case:216/51 cases of de novo acute myeloid leukemia (n=216) and cases of therapy-related acute myeloid leukemia:(n=51)										
138249	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Matullo, G.  et al. 2001	11304692				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			International journal of cancer. Journal international du cancer. 2001 May;92(4):562-7	DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study.		600675	23939	2	2001	Our results suggest that bladder-cancer risk can be genetically modulated by XRCC3, which may repair DNA cross-link lesions produced by aromatic amines and other environmental chemicals.	Case:124 bladder-cancer patients;Control:85 hospital controls (urological and non-urological)	smoking (tobacco)									
138250		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Stern, M. C.  et al. 2002	12223443				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2002 Sep;11(9):939-43	DNA repair gene XRCC3 codon 241 polymorphism, its interaction with smoking and XRCC1 polymorphisms, and bladder cancer risk.		600675	23940	2	2002	In this study, we found some evidence for a gene-gene interaction between the XRCC1 codon 194 and XRCC3 codon 241 polymorphisms (P = 0.09) and some support for a possible gene-gene-smoking three-way interaction (P = 0.08).	Control:209 controls frequency matched to cases on age, sex, and ethnicity;Case:233 bladder cancer cases										
138251	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Disease Progression	14	14q32.3	XRCC3	103233706	103251549		Krupa, R.  et al. 2004	15354414				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Journal of experimental & clinical cancer research. 2004 Jun;23(2):285-94	An association of polymorphism of DNA repair genes XRCC1 and XRCC3 with colorectal cancer		600675	23941	2	2004	Both polymorphisms were not associated with colorectal cancer progression.	Control:100:controls;Case:51 colorectal cancer cases										
138252		cytogenetic studies	OTHER	OTH	Translocation, Genetic	14	14q32.3	XRCC3	103233706	103251549		Wilding, C. S.  et al. 2005	15680411				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Mutation research. 2005 Feb;570(1):137-45	DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers		600675	23942	2	2005	A positive interaction observed between genotype (individuals with at least one allele >/=20 repeat units) at a microsatellite locus in the XRCC3 gene and smoking status should be interpreted cautiously because interactions were investigated for seven polymorphisms and two exposures. Nonetheless, further research is warranted to examine whether this DNA repair gene variant might be associated with a sub-optimal repair response to smoking-induced DNA damage and hence an increased frequency of translocations.	Cohort 291 retired radiation workers who had received cumulative occupational external radiation doses of between 0 and 1873mSv 	radiation									
138253	N	endometrial cancer; cervical cancer; radiosensitivity, clinical	CANCER	CAN	Genital Neoplasms, Female|Radiation Injuries|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		De Ruyck, K.  et al. 2005	16137195			other	X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	Caucasic	Belgium	CDC GDPinfo	7517	Hs.592325			Radiation research. 2005 Sep;164(3):237-44	Microsatellite polymorphisms in DNA repair genes XRCC1, XRCC3 and XRCC5 in patients with gynecological tumors: association with lateclinical radiosensitivity and cancer incidence.		600675	23943	2	2005												
138254		lung cancer; bladder cancer	CANCER	CAN	Mouth Neoplasms|Pharyngeal Neoplasms|DNA Damage|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Benhamou, S.  et al. 2004	15386379				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			International journal of cancer. Journal international du cancer. 2004 Dec;112(5):901-4	DNA repair gene XRCC2 and XRCC3 polymorphisms and susceptibility to cancers of the upper aerodigestive tract.		600675	23944	2	2004	These findings provide evidence for the view that polymorphisms in DNA repair genes may modify individual susceptibility to smoking-related cancers.	Case:121/129 Caucasian smoking oral/pharynx (n=121) and lanynx (n=129) cancer cases;Control:172 Caucasian smoking noncancer controls										
138255		cytogenetic studies	OTHER	OTH	Neoplasms|Xeroderma Pigmentosum	14	14q32.3	XRCC3	103233706	103251549		Matullo, G.  et al. 2003	12869411				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		Italy	CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2003 Jul;12(7):674-7	Combination of DNA repair gene single nucleotide polymorphisms and increased levels of DNA adducts in a population-based study.		600675	25801	2	2003	Our study suggests that the combined effect of multiple variant alleles may be more important than the investigation of single SNP in modulating DNA repair capacity.	Cohort 628 Italian healthy individuals belonging to the prospective European project "European Prospective Investigation into Cancer and Nutrition." 										
138256		leukemia; lung cancer; laryngeal cancer; bladder cancer; oral-pharyngeal cancer	CANCER	CAN		14	14q32.3	XRCC3	103233706	103251549			16314400				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. Epub 2005 Nov	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study		600675	25802	2	2005												
138257	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Smith, T. R.  et al. 2003	14652281				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1200-4	DNA-repair genetic polymorphisms and breast cancer risk.		600675	25803	2	2003	We provide evidence that variants of XRCC1, XRCC3, and ERCC4/XPF genes, particularly in combination, contribute to breast cancer susceptibility.	Case:253 breast cancer cases;Control:268:controls										
138258	Y	cytogenetic studies	OTHER	OTH	DNA Damage	14	14q32.3	XRCC3	103233706	103251549		Aka, P.  et al. 2004	15491645				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Mutation research. 2004 Nov;556(2-Jan):169-81	Are genetic polymorphisms in OGG1, XRCC1 and XRCC3 genes predictive for the DNA strand break repair phenotype and genotoxicity in workers exposed to low dose ionising radiations?		600675	25804	2	2004	The analysis confirms that MN frequencies are reliable biomarkers for the assessment of genetic effects in workers exposed to ionising radiation (IR). A combined analysis of the three genotypes, OGG1, XRCC1 and XRCC3 polymorphisms is advised in order to assess individual susceptibility to ionising radiation. As an alternative or complement, the in vitro DNA strand break repair phenotype which integrates several repair pathways is recommended. Smokers with OGG1 polymorphisms who are exposed to ionising radiation represent a specific population requiring closer medical surveillance because of their increased mutagenic/carcinogenic risk.	Case workers exposed to ionising radiation;Control:controls	age smoking (tobacco)									
138259		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Han, J.  et al. 2003	14578164				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2004 Feb;25(2):189-95	Polymorphisms in DNA double-strand break repair genes and breast cancer risk in the Nurses' Health Study.		600675	25805	2	2003	No significant interactions were seen between any of these polymorphisms and duration or dose of cigarette smoking. The gene-environment interaction data suggest that the subtle effects of some of these variants on breast cancer risk may be magnified in the presence of certain exposures.	Case:1,004 breast cancer cases from the Nurses' Health Study;Control:1,385 controls from the Nurses' Health Study	family history smoking (tobacco)									
138260		melanoma; skin cancer, non-melanoma	CANCER	CAN	Melanoma|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|DNA Damage|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Han, J.  et al. 2004	15126335				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer research. 2004 May;64(9):3009-13	Polymorphisms in DNA double-strand break repair genes and skin cancer risk.		600675	25806	2	2004	The main effects of these genotypes were essentially null for melanoma risk. This study provides evidence to suggest the role of the DSB repair pathway in skin cancer development, especially for BCC.	Case:219/286/300 melanoma (n=219), squamous cell carcinoma (n=286) and basal cell carcinoma (n=300) cases;Control:873:controls										
138261		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Webb, P. M.  et al. 2005	15734952				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):319-23	Double-strand break repair gene polymorphisms and risk of breast or ovarian cancer.		600675	25807	2	2005	Although there was little statistical power to detect modest increases in risk for the homozygote variant genotypes, particularly for the rare RAD51 and XRCC2 variants, the data suggest that none of these variants play a major role in the etiology of breast or ovarian cancer.	Case:1,456 breast cancer cases;Control:335 controls of similar age distribution to ovarian cancer cases;Case:549 incident ovarian cancer cases:Austrailia;Control:793 age-matched controls										
138262		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Butkiewicz, D.  et al. 2001	11285194				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		United States|Poland|Denmark	CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2001 Apr;22(4):593-7	Genetic polymorphisms in DNA repair genes and risk of lung cancer		600675	25808	2	2001	Our results indicate that these polymorphisms in the XPD gene should be investigated further for the possible attenuation of DNA repair and apoptotic functions and that additional molecular epidemiological studies are warranted to extend these findings.	Case:96 non-small-cell lung cancer cases;Control:96 healthy controls matched for age, gender and cigarette smoking	smoking (tobacco)									
138263		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Han, J.  et al. 2004	15066914				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		United States	CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2004 Apr;13(4):520-4	Interaction between genetic variations in DNA repair genes and plasma folate on breast cancer risk.		600675	25809	2	2004	Although none of the statistical tests for interaction was significant, these data give some support for the hypothesis that genetic variations in DNA repair genes may modify the relation between plasma folate level and breast cancer risk.	Control:712:controls;Case:712 breast cancer cases from the Nurses' Health Study										
138264		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	14	14q32.3	XRCC3	103233706	103251549		Medina, P. P.  et al. 2003	12917199				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of Homologous Recombination Gene Polymorphisms in Lung Cancer Patients Reveals an Association of the NBS1-185Gln Variant and p53 Gene Mutations		600675	26771	2	2003	Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.	Cohort 109 lung cancer patients 	smoking (tobacco)									
138265		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Zhang, L.  et al. 2005	16002061				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Clinica chimica acta; international journal of clinical chemistry. 2005 Sep;359(2-Jan):150-5	Single nucleotide polymorphisms for DNA repair genes in breast cancer patients.		600675	26772	2	2005	 The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.											
138266		leukemia; lung cancer; oropharyngolaryngeal cancers; laryngeal cancer; bladder cancer	CANCER	CAN	Neoplasms	14	14q32.3	XRCC3	103233706	103251549			16308313				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2005	DNA repair polymorphisms and cancer risk in non-smokers in a cohort study.		600675	26773	2	2005												
138267		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Huang, W. Y.  et al. 2005	16030112				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1747-53	Selected genetic polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and risk of head and neck cancer: apooled analysis.		600675	26774	2	2005			alcohol smoking (tobacco)									
138269		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	14	14q32.3	XRCC3	103233706	103251549		Casson, A. G.  et al. 2005	15878910				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2005 Sep;26(9):1536-41	Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma		600675	26776	2	2005	We conclude that  the malignant phenotype probably results from a summation of polymorphic nucleotide excision repair genes showing opposing effects (an increased risk of XPC versus a protective effect of XPD). The protective effect of the homozygous variant of XRCC1 Arg399Gln for GERD and BE suggests that base excision repair alterations may occur early in progression to EADC, likely in response to GERD-induced endogenous oxidative or inflammatory DNA damage. As GERD and BE are highly prevalent in the general population, this protective effect may well explain why only a fraction of individuals with GERD and BE progress into invasive EADC.	Case:126/125/56 patients with gastroesophageal reflux disease (n=126), Barrett esophagus (n=125) and esophageal:adenocarcinoma (n=56);Control:95 strictly asymptomatic healthy individuals										
138270		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Millikan, R. C.  et al. 2005	16214912				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2326-34	Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk.		600675	26777	2	2005			radiation									
138271		smoking genotoxic effects	CHEMDEPENDENCY	CHEM		14	14q32.3	XRCC3	103233706	103251549		Hoffmann, H.  et al. 2005	16037119				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Mutagenesis. 2005 Sep;20(5):359-64	Genetic polymorphisms and the effect of cigarette smoking in the comet assay.		600675	27360	2	2005												
138272		cytogenetic studies	OTHER	OTH	Chromosome Aberrations	14	14q32.3	XRCC3	103233706	103251549		Tuimala, J.  et al. 2004	15450429				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Mutation research. 2004 Oct;554(2-Jan):319-33	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: effects on levelsof sister chromatid exchanges and chromosomal aberrations		600675	27361	2	2004	Our results are in line with earlier findings on the influence of NAT2, GSTT1, and GSTM1 polymorphisms on the level of lymphocyte chromosome damage and suggest that also XRCC1 polymorphism affects CA frequencies, thus apparently influencing DNA repair phenotype. It remains to be examined whether these or other genetic polymorphisms could explain the observed cancer risk predictivity of high CA frequency.	Cohort 145/6 peripheral lymphocytes of 145 (CAs) and 60 (SCEs) healthy Caucasians 										
138273		neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	14	14q32.3	XRCC3	103233706	103251549		Olshan, A. F.  et al. 2005	15887293				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			American journal of medical genetics Part A. 2005 Jun;135(3):268-73	Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.		600675	27362	2	2005	This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.	Case:250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program;Control:350 non-malformation controls										
138275		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Wang, L. E.  et al. 2004	15313891				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer research. 2004 Aug;64(16):5560-3	Polymorphisms of DNA repair genes and risk of glioma.		600675	27364	2	2004	These results suggest that the T allele may be a risk allele, and this XRCC7 polymorphism may be a marker for the susceptibility to glioma. Larger studies are needed to confirm our findings and unravel the underlying mechanisms.	Case:309 patients with newly diagnosed glioma;Control:342 cancer-free control participants matched on age										
138276		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Popanda, O.  et al. 2004	15333465				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2004 Dec;25(12):2433-41	Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer		600675	27365	2	2004	These results indicate that lung cancer risk is only moderately increased by single DNA repair gene variants investigated but it is considerably enhanced by specific combinations of variant alleles. Analyses of additional DNA repair gene interactions in larger population-based studies are warranted for identification of high risk subjects.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (among them 204 adenocarcinoma and 212 squamous cell carcinoma)										
138277		cytogenetic studies	OTHER	OTH	DNA Damage|Chromosome Aberrations	14	14q32.3	XRCC3	103233706	103251549		Vodicka, P.  et al. 2004	14729591				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2004 May;25(5):757-63	Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and singlestrand breaks in DNA		600675	27366	2	2004	Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes coding DNA repair enzymes.	Cohort a central European population 										
138278		cytogenetic studies	OTHER	OTH		14	14q32.3	XRCC3	103233706	103251549		Kuricova, M.  et al. 2005	15992842				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Toxicology and applied pharmacology. 2005 Sep;207(2 Suppl):302-9	DNA repair and cyclin D1 polymorphisms and styrene-induced genotoxicity and immunotoxicity.		600675	27367	2	2005	Adhesion molecules sL-selectin and sICAM-1 were associated with XPC genotype (P < 0.05). Individual susceptibility may be reflected in genotoxic and immunotoxic responses to environmental and occupational exposures to xenobiotics.		styrene									
138279		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549			16373199				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	Thai		CDC GDPinfo	7517	Hs.592325			International journal of hygiene and environmental health. 2006 ;209(1):21-9	Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand		600675	27368	2	2006			alcohol betel quid smoking (tobacco)									
138280	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Kuschel, B.  et al. 2002	12023982				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Human molecular genetics. 2002 Jun;11(12):1399-407	Variants in DNA double-strand break repair genes and breast cancer susceptibility.		600675	27369	2	2002	These data provide some evidence that variants in XRCC2 and LIG4 alter breast cancer risk, together with stronger evidence that variants of XRCC3 are associated with risk. If these results can be confirmed, understanding the functional basis should improve our understanding of the role of DNA repair in breast carcinogenesis.	Control:1826:controls;Case:2205 cases of breast cancer										
138281		soft tissue sarcoma	CANCER	CAN	Sarcoma	14	14q32.3	XRCC3	103233706	103251549		Berwick, M.  et al. 2004	15459223				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Journal of clinical oncology. 2004 Oct;22(19):3997-4001	Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma.		600675	27370	2	2004	 Further study of the role of the AhR polymorphism is warranted.	Cohort 120 newly diagnosed patients with soft tissue sarcoma 										
138282		benzene toxicity	METABOLIC	MET	DNA Damage|Chronic Disease|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Zhang, Z.  et al. 2005	16284386				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	Chinese	China	CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2614-9	Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population.		600675	27371	2	2005												
138283		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	14	14q32.3	XRCC3	103233706	103251549		Tuimala, J.  et al. 2002	12082022				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		Hungary	CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		600675	27680	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
138284	N	radiotherapy	OTHER	OTH	Breast Neoplasms|Radiation Injuries	14	14q32.3	XRCC3	103233706	103251549		Andreassen, C. N.  et al. 2005	15878096				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		600675	27681	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
138285		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	14	14q32.3	XRCC3	103233706	103251549		Matullo, G.  et al. 2005	16284380				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2569-78	Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study.		600675	27682	2	2005			smoking (tobacco)									
138286		lung cancer	CANCER	CAN	Lung Neoplasms|Chromosome Aberrations	14	14q32.3	XRCC3	103233706	103251549		Harms, C.  et al. 2004	15199549				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Environmental and molecular mutagenesis. 2004 ;44(1):74-82	Polymorphisms in DNA repair genes, chromosome aberrations, and lung cancer.		600675	27888	2	2004	Since some variant DNA-repair genotypes have functional deficits for DNA repair [Au et al.	Control:69 matched controls;Case:79 patients with lung cancer	smoking (tobacco)									
138287		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Forsti, A.  et al. 2004	15010895				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		Poland|Finland	CDC GDPinfo	7517	Hs.592325			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		600675	27889	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
138288		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	14	14q32.3	XRCC3	103233706	103251549			16343742				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		600675	28030	2	2005			smoking (tobacco)									
138289		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Sadetzki, S.  et al. 2005	15824172				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		Israel	CDC GDPinfo	7517	Hs.592325			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		600675	28275	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
138290		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Festa, F.  et al. 2005	15914210				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		600675	28276	2	2005												
138291	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Sanyal, S.  et al. 2003	14688016				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		600675	28277	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
138292		breast cancer	CANCER	CAN	Breast Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Goode, E. L.  et al. 2002	12036913				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		600675	28529	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
138293		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	14	14q32.3	XRCC3	103233706	103251549		Zienolddiny, S.  et al. 2005	16195237				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		600675	28530	2	2005												
138294		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Fu, Y. P.  et al. 2003	12750264				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2			CDC GDPinfo	7518	Hs.567359			Cancer research. 2003 May;63(10):2440-6	Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.		194363	25810	2	2003	Based on comprehensive NHEJ gene profiles, this study provides new insights to suggest the role of the NHEJ pathway in breast cancer development and supports the possibility that breast cancer is initiated by estrogen exposure, which causes DNA DSBs.	Control:379 healthy controls;Case:254 primary breast cancer patients										
138295		cytogenetic studies	OTHER	OTH	Translocation, Genetic	5	5q13-q14	XRCC4	82409072	82685335		Wilding, C. S.  et al. 2005	15680411				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2			CDC GDPinfo	7518	Hs.567359			Mutation research. 2005 Feb;570(1):137-45	DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers		194363	25811	2	2005	A positive interaction observed between genotype (individuals with at least one allele >/=20 repeat units) at a microsatellite locus in the XRCC3 gene and smoking status should be interpreted cautiously because interactions were investigated for seven polymorphisms and two exposures. Nonetheless, further research is warranted to examine whether this DNA repair gene variant might be associated with a sub-optimal repair response to smoking-induced DNA damage and hence an increased frequency of translocations.	Cohort 291 retired radiation workers who had received cumulative occupational external radiation doses of between 0 and 1873mSv 	radiation									
138296		body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	CANCER	CAN		5	5q13-q14	XRCC4	82409072	82685335		Ford, B. N.  et al. 2000	11062157				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2			CDC GDPinfo	7518	Hs.567359			Carcinogenesis. 2000 Nov;21(11):1977-81	Identification of single nucleotide polymorphisms in human DNA repair genes.		194363	27372	2	2000	Using this approach, possible associations of sequence variation, and hence of variation in DNA repair, with disease risk can be assessed.	Cohort 142 healthy individuals 										
138297	Y	cancer	CANCER	CAN	Neoplasms	2	2q35	XRCC5	216682376	216779248		Price EA et al. 1997	9542526				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			KGB	7520	Hs.388739			Somatic cell and molecular genetics. 1997 Jul;23(4):237-47	Rare microsatellite polymorphisms in the DNA repair genes XRCC1 XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity.		194364	6546	1	1997												
138298	Y	cancer	CANCER	CAN	Neoplasms	2	2q35	XRCC5	216682376	216779248		Price EA et al. 1997	9542526				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			KGB	7520	Hs.388739			Somatic cell and molecular genetics. 1997 Jul;23(4):237-47	Rare microsatellite polymorphisms in the DNA repair genes XRCC1 XRCC3 and XRCC5 associated with cancer in patients of varying radiosensitivity.		194364	6547	1	1997												
138299	N	endometrial cancer; cervical cancer; radiosensitivity, clinical	CANCER	CAN	Genital Neoplasms, Female|Radiation Injuries|Genetic Predisposition to Disease	2	2q35	XRCC5	216682376	216779248		De Ruyck, K.  et al. 2005	16137195			other	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2	Caucasic	Belgium	CDC GDPinfo	7520	Hs.388739			Radiation research. 2005 Sep;164(3):237-44	Microsatellite polymorphisms in DNA repair genes XRCC1, XRCC3 and XRCC5 in patients with gynecological tumors: association with lateclinical radiosensitivity and cancer incidence.		194364	25812	2	2005												
138300		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	2	2q35	XRCC5	216682376	216779248		Fu, Y. P.  et al. 2003	12750264				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			CDC GDPinfo	7520	Hs.388739			Cancer research. 2003 May;63(10):2440-6	Breast cancer risk associated with genotypic polymorphism of the nonhomologous end-joining genes: a multigenic study on cancer susceptibility.		194364	26778	2	2003	Based on comprehensive NHEJ gene profiles, this study provides new insights to suggest the role of the NHEJ pathway in breast cancer development and supports the possibility that breast cancer is initiated by estrogen exposure, which causes DNA DSBs.	Control:379 healthy controls;Case:254 primary breast cancer patients										
138301		cytogenetic studies	OTHER	OTH	Translocation, Genetic	2	2q35	XRCC5	216682376	216779248		Wilding, C. S.  et al. 2005	15680411				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			CDC GDPinfo	7520	Hs.388739			Mutation research. 2005 Feb;570(1):137-45	DNA repair gene polymorphisms in relation to chromosome aberration frequencies in retired radiation workers		194364	26779	2	2005	A positive interaction observed between genotype (individuals with at least one allele >/=20 repeat units) at a microsatellite locus in the XRCC3 gene and smoking status should be interpreted cautiously because interactions were investigated for seven polymorphisms and two exposures. Nonetheless, further research is warranted to examine whether this DNA repair gene variant might be associated with a sub-optimal repair response to smoking-induced DNA damage and hence an increased frequency of translocations.	Cohort 291 retired radiation workers who had received cumulative occupational external radiation doses of between 0 and 1873mSv 	radiation									
138302		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	2	2q35	XRCC5	216682376	216779248		Sadetzki, S.  et al. 2005	15824172				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2		Israel	CDC GDPinfo	7520	Hs.388739			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		194364	28330	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
138303		diabetes, type 1; blood pressure, arterial; nephropathy in other diseases	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p12	XYLT1	17103681	17472239		Schon, S.  et al. 2005	16164625				Xylosyltransferase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022166.2			CDC GDPinfo	64131	Hs.585743			Kidney international. 2005 Oct;68(4):1483-90	Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.		608124	14847	2	2005	 We detected in our cohort associations between DNA sequence variations of genes encoding xylosyltransferases and the occurrence of altered clinical characteristics.											
138304		diabetes, type 1; blood pressure, arterial; nephropathy in other diseases	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	17	17q21.3-17q22	XYLT2	45778391	45793511		Schon, S.  et al. 2005	16164625				Xylosyltransferase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022167.1			CDC GDPinfo	64132	Hs.463416			Kidney international. 2005 Oct;68(4):1483-90	Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.		608125	23945	2	2005	 We detected in our cohort associations between DNA sequence variations of genes encoding xylosyltransferases and the occurrence of altered clinical characteristics.											
138305		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	20	20q13.1	YWHAB	42947757	42970575		Otsuka J 2004	15022330				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003404.3			Y Wang	7529	Hs.643544			Arthritis and rheumatism. 2004 Mar;50(3):871-81	Association of a four-amino acid residue insertion polymorphism of the HS1 gene with systemic lupus erythematosus: molecular and functional analysis.		601289	6548	1	2004	 These results suggest that HS1 with the EPEP insertion polymorphism transmits accelerated signals from BCR and is involved in the pathogenesis of SLE.											
138306	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.3	YWHAH	30670478	30683590	0.01	Bell R 2000	11121172				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			KGB	7533	Hs.226755			American journal of medical genetics. 2000 Dec;96(6):736-43	Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia.		113508	6549	1	2000	Haplotype analysis of pairs of polymorphisms provided no evidence for association of this gene with schizophrenia in the population studied.	Case schizophrenic subjects;Control:controls										
138307	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.3	YWHAH	30670478	30683590	P < 0.02	Toyooka K 1999	10206237	(VNTR) in the 5`-noncoding region of the 14-3-3 eta chain			Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			KGB	7533	Hs.226755			American journal of medical genetics. 1999 Apr;88(2):164-7			113508	6550	1	1999												
138308		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q12.3	YWHAH	30670478	30683590		Ubl A et al. 2002	12480176				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			KGB	7533	Hs.226755			Brain research  Molecular brain research. 2002 Dec;108(2-Jan):33-9	14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta.		113508	6551	1	2002												
138309		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	22	22q12.3	YWHAH	30670478	30683590		Ishiguro H et al. 2000	10776673				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			KGB	7533	Hs.226755			Alcoholism, clinical and experimental research. 2000 Mar;24(3):343-7	Association study between genetic polymorphisms in the 14-3-3 eta chain and dopamine D4 receptor genes and alcoholism.		113508	6552	1	2000	 YWHAH and DRD4 do not appear to play a major role in the development of alcoholism.											
138310		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.3	YWHAH	30670478	30683590		Bell, R.  et al. 2000	11121172				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			CDC GDPinfo	7533	Hs.226755			American journal of medical genetics. 2000 Dec;96(6):736-43	Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia.		113508	20213	2	2000	Haplotype analysis of pairs of polymorphisms provided no evidence for association of this gene with schizophrenia in the population studied.	Case schizophrenic subjects;Control:controls										
138311		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	11	11q23.1	ZBTB16	113435640	113626607		Zhu, Y. L.  et al. 2005	15968309				Zinc finger and BTB domain containing 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006006.4			CDC GDPinfo	7704	Hs.591945			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		176797	27683	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
138312	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529	0.04	Mukai J 2004	15184899		rs175174 regulates the level of the fully functional transcript by modulating the retention of intron 4 of the gene ZDHHC8, which encodes a putative transmembrane palmitoyltransferase.	other	Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2	389 US and South African families		KGB	29801	Hs.63128			Nature genetics. 2004 Jul;36(7):725-31	Evidence that the gene encoding ZDHHC8 contributes to the risk of schizophrenia.		608784	6748	1	2004												
138313	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Glaser, B.  et al. 2005	15992527	rs175174			Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2		Bulgaria	CDC GDPinfo	29801	Hs.63128			Biological psychiatry. 2005 Jul;58(1):78-80	No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samples.		608784	14848	2	2005	 Our data suggest that the reported genetic association by either represents type I error resulting from sampling variance or that rs175174 is in linkage disequilibrium (LD) with the functional variant for schizophrenia and different LD patterns obscure the detection of association.											
138314	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Chen, W. Y.  et al. 2004	15489219				Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2			CDC GDPinfo	29801	Hs.63128			Human molecular genetics. 2004 Dec;13(23):2991-5	Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8.		608784	20214	2	2004	Our current data presents consistent association results obtained from both case-control and family-based samples in a same laboratory under the same experimental condition. Despite the potential genetic heterogeneity, our independent findings further support that the 22q11 region is likely to harbor candidate schizophrenia susceptibility genes.	Case Chinese Han schizophrenic cases;Control:controls										
138315	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Saito, S.  et al. 2005	15631889				Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2	Japanese	Japan	CDC GDPinfo	29801	Hs.63128			Neuroscience letters. 2005 Feb;374(1):21-4	No association was found between a functional SNP in ZDHHC8 and schizophrenia in a Japanese case-control population.		608784	20215	2	2005	No association was found between schizophrenia and controls even after dividing samples by gender. Because our sample size provided quite high power, ZDHHC8 may not play a major role in Japanese schizophrenia. And our results did not support the gender-specific effect of this SNP.	Control:529:controls;Case:561 Japanese schizophrenics										
138316	N	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Otani, K.  et al. 2005	16150541				Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2			CDC GDPinfo	29801	Hs.63128			Neuroscience letters. 2005 Dec;390(3):166-70	The ZDHHC8 gene did not associate with bipolar disorder or schizophrenia.		608784	20216	2	2005												
138318	N	heart anomalies, congenital	CARDIOVASCULAR	CARD	Tricuspid Atresia	8	8q23	ZFPM2	106400322	106885943		Sarkozy, A.  et al. 2005	15643620				Zinc finger protein, multitype 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012082.2			CDC GDPinfo	23414	Hs.431009			American journal of medical genetics Part A. 2005 Feb;133(1):68-70	ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.		603693	23946	2	2005	No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.	Cohort 40 individuals affected by nonsyndromic tricuspid atresia 										
138319	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	3	3q24	ZIC1	148609870	148617196		Klootwijk, R.  et al. 2004	14679585				Zic family member 1 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003412.3			CDC GDPinfo	7545	Hs.535724			American journal of medical genetics Part A. 2004 Jan;124(1):40-7	Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.		600470	20218	2	2004	That may suggest a role-albeit small-of this variant in the etiology of NTD in humans. Our data indicate that ZIC1, ZIC2, and ZIC3 are not major risk factors for NTD in humans.	Case a large panel of NTD patients;Control:364:controls										
138320	Y	Neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	13	13q32	ZIC2	99432319	99437020		Brown LY et al. 2002	11857562				Zic family member 2 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007129.2			KGB	7546	Hs.591205			American journal of medical genetics. 2002 Mar;108(2):128-31	Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.		603073	6553	1	2002	Our sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research. If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD.	Case:192 neural tube defect patients										
138321	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	13	13q32	ZIC2	99432319	99437020		Brown, L. Y.  et al. 2002	11857562				Zic family member 2 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007129.2			CDC GDPinfo	7546	Hs.591205			American journal of medical genetics. 2002 Mar;108(2):128-31	Possible association of NTDs with a polyhistidine tract polymorphism in the ZIC2 gene.		603073	14849	2	2002	Our sample was too small to reach definitive conclusions, but the evidence is sufficiently intriguing to encourage further research. If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD.	Case:192 neural tube defect patients										
138322	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	13	13q32	ZIC2	99432319	99437020		Zhu, H.  et al. 2003	12522805				Zic family member 2 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007129.2	Hispanic		CDC GDPinfo	7546	Hs.591205			American journal of medical genetics Part A. 2003 Feb;116(4):414-5	Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.		603073	20219	2	2003	In conclusiion, this sutdy found no supporting evidence for an association between ZIC3 or ZIC2 and the risk of NTDs. Because most of our samples are from surviving spina bifida patients, it remains possible that these genes are related to failure of neural tube closure at a higher anatomic level, such as anencephaly. The biological function of the ZIC2 histidine track polymorphism remains unknown, but there is evidence that this polymorphism is differentially distributed in different populations. Further studies focusing on the function of the ZIC2 histidine track polymorphism and a possible association of this polymorphism with higher anatomic NTDs may be worth pursuing.	Case neural tube defect patients and their parents:Texas, US;Control:controls										
138323	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	13	13q32	ZIC2	99432319	99437020		Klootwijk, R.  et al. 2004	14679585				Zic family member 2 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007129.2			CDC GDPinfo	7546	Hs.591205			American journal of medical genetics Part A. 2004 Jan;124(1):40-7	Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.		603073	23947	2	2004	That may suggest a role-albeit small-of this variant in the etiology of NTD in humans. Our data indicate that ZIC1, ZIC2, and ZIC3 are not major risk factors for NTD in humans.	Case a large panel of NTD patients;Control:364:controls										
138324	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	X	Xq26.2	ZIC3	136476011	136481925		Zhu, H.  et al. 2003	12522805				Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003413.2	Hispanic		CDC GDPinfo	7547	Hs.111227			American journal of medical genetics Part A. 2003 Feb;116(4):414-5	Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.		300265	23948	2	2003	In conclusiion, this sutdy found no supporting evidence for an association between ZIC3 or ZIC2 and the risk of NTDs. Because most of our samples are from surviving spina bifida patients, it remains possible that these genes are related to failure of neural tube closure at a higher anatomic level, such as anencephaly. The biological function of the ZIC2 histidine track polymorphism remains unknown, but there is evidence that this polymorphism is differentially distributed in different populations. Further studies focusing on the function of the ZIC2 histidine track polymorphism and a possible association of this polymorphism with higher anatomic NTDs may be worth pursuing.	Case neural tube defect patients and their parents:Texas, US;Control:controls										
138325	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	X	Xq26.2	ZIC3	136476011	136481925		Klootwijk, R.  et al. 2004	14679585				Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003413.2			CDC GDPinfo	7547	Hs.111227			American journal of medical genetics Part A. 2004 Jan;124(1):40-7	Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.		300265	25813	2	2004	That may suggest a role-albeit small-of this variant in the etiology of NTD in humans. Our data indicate that ZIC1, ZIC2, and ZIC3 are not major risk factors for NTD in humans.	Case a large panel of NTD patients;Control:364:controls										
138326	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	3	3q21	ZNF148	126433607	126576785		Samuelsson, L.  et al. 2004	15175029				Zinc finger protein 148 (pHZ-52)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021964.1			CDC GDPinfo	7707	Hs.591312			The Journal of investigative dermatology. 2004 Jun;122(6):1399-400	Association analysis of cystatin A and zinc finger protein 148, two genes located at the psoriasis susceptibility locus PSORS5.		601897	23949	2	2004	We did not detect association with either of the genes.	Control:controls;Case psoriasis cases										
138327		myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction|Genetic Predisposition to Disease	11	11q23.3	ZNF202	123100206	123117573		Stene, M. C.  et al. 2005	16289551				Zinc finger protein 202	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003455.2			CDC GDPinfo	7753	Hs.112556			Atherosclerosis. 2005	Zinc Finger Protein 202: A new candidate gene forischemic heart disease The Copenhagen City Heart Study.		603430	20220	2	2005	 This is the first study to suggest that ZNF202 could be a new candidate gene for IHD and MI in the general population.											
138328		azoospermia	REPRODUCTION	REP		19	19q13.31	ZNF230	49198916	49209912		Dong, J.  et al. 2005	15952109				Zinc finger protein 230	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006300.2			CDC GDPinfo	7773	Hs.193583			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):258-60	Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia.			20221	2	2005	 ZNF230 gene may be associated with azoospermia, and the A316G mutation may be correlated with the serum FSH level.											
138330	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.2	ZNF74	19078450	19092752		Takase K et al. 2001	11705709				Zinc finger protein 74 (Cos52)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003426.1		Japan	KGB	7625	Hs.517418			Schizophrenia research. 2001 Dec;52(3):161-5	Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.		194548	6554	1	2001	These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia.	Case:300:schizophrenics:Japan;Control:300 controls not further specified in abstract										
138331	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.2	ZNF74	19078450	19092752		Takase, K.  et al. 2001	11705709				Zinc finger protein 74 (Cos52)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003426.1		Japan	CDC GDPinfo	7625	Hs.517418			Schizophrenia research. 2001 Dec;52(3):161-5	Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.		194548	23950	2	2001	These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia.	Case:300:schizophrenics:Japan;Control:300 controls not further specified in abstract										
138332	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis|Thrombophilia	11	11q12.2	ZP1	60391590	60399740		Water, N.  et al. 2004	15461625				Zona pellucida glycoprotein 1 (sperm receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207341.2			CDC GDPinfo	22917	Hs.172130			British journal of haematology. 2004 Oct;127(2):190-4	Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form ofthrombophilia.		195000	20223	2	2004	Our results suggest an association between ZPI deficiency and venous thrombosis and we propose that ZPI deficiency is potentially a new form of thrombophilia.	Case:250 thrombosis patients;Control:250:controls										
138333		invitro fertilization	REPRODUCTION	REP	Infertility, Female	11	11q12.2	ZP1	60391590	60399740		Mannikko, M.  et al. 2005	15860499				Zona pellucida glycoprotein 1 (sperm receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207341.2			CDC GDPinfo	22917	Hs.172130			Human reproduction (Oxford, England). 2005 Jun;20(6):1578-85	Association between sequence variations in genes encoding human zona pellucida glycoproteins and fertilization failure in IVF.		195000	20224	2	2005	 Our study on ZP genes of infertile women revealed a high degree of sequence variations. This may reflect gradual reduction of fertility among TFFs, but the putative roles and influences of single variations can only be hypothesized.	Case:18 infertile women whose IVF did not result in any fertilized oocytes, whereas fertilization by ICSI was successful;Control:23/68 fertilizers in IVF (n=23) and women with proven:fertility (n=68)										
138335	Y	medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET		1	1p31	ACADM	75962869	76001771		Kolvraa S et al. 1991	1679031				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			KGB	34	Hs.445040			Human genetics. 1991 Aug;87(4):425-8	The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.		607008	7132	1	1991												
138336		SCAD deficiency	METABOLIC	MET	Lipid Metabolism, Inborn Errors	1	1p31	ACADM	75962869	76001771		Andresen BS et al. 1993	8102510	T157 mutation, The mutation changes conserved arginine at position 28 (R28C) of the mature ACADM protein.		coding sequence	Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			KGB	34	Hs.445040			American journal of human genetics. 1993 Sep;53(3):730-9	A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).		607008	7133	1	1993												
138337		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET		1	1p31	ACADM	75962869	76001771		Andresen, B. S.  et al. 2001	11349232				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			American journal of human genetics. 2001 Jun;68(6):1408-18	Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification andCharacterization of a New, Prevalent Mutation That Results i		607008	14948	2	2001	A carrier frequency of 1/500 in the general population makes the 199T-->C mutation one of the three most prevalent mutations in the enzymes of fatty-acid oxidation.	Cohort 930078 blood spots from US populations identified by prospective tandem mass spectrometry screening 										
138338		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET		1	1p31	ACADM	75962869	76001771		Carpenter, K.  et al. 2001	11517203				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			Archives of disease in childhood Fetal and neonatal edition. 2001 Sep;85(2):F105-9	Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.		607008	14949	2	2001	 Most patients with symptomatic MCAD deficiency could be detected by newborn screening. Infants actually detected had a lower frequency of A985G alleles than clinically diagnosed cases and may have a lower risk of becoming symptomatic.	Cohort 275653 consecutive neonates undergoing routine newborn screening 										
138339		lipid metabolism disorders	METABOLIC	MET	Metabolism, Inborn Errors	1	1p31	ACADM	75962869	76001771		Lehotay, D. C.  et al. 2004	14970748				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			Journal of inherited metabolic disease. 2004 ;27(1	Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship betweengenotype and biochemical phenotype?		607008	14950	2	2004	These findings indicated that the frequency distribution of heterozygotes is not random within this population. Group C was further divided into C1, the 26 heterozygotes, and C2, the remaining 74 newborns in group C. In group C1 only 2 (8%) were in the 'high-risk' group characterized by either low birth weight or requiring admission to the neonatal intensive care unit. In contrast, 28 (38%) from C2 had low birth weight or were in the neonatal intensive care unit. In our dataset, C(8)/C(2) and C(8)/C(12) ratios were also significantly elevated in both groups C1 and C2 compared to controls (group B). In contrast to what others have reported, the ratio of C(8)/C(10) did not differentiate the group B controls from heterozygotes or other patients in metabolic distress (group C2), but were lower than those seen in classic MCAD or mild MCAD deficiency.	Cohort 7,140 newborn blood spots 										
138340		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET	Deficiency Diseases|Genetic Predisposition to Disease	1	1p31	ACADM	75962869	76001771		Maier, E. M.  et al. 2005	15832312				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			Human mutation. 2005 May;25(5):443-52	Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.		607008	14951	2	2005	Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening.	Cohort 524,287 newborns Bavaria, Germany 										
138341		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET	Seizures|Hypoglycemia	1	1p31	ACADM	75962869	76001771		Nennstiel-Ratzel, U.  et al. 2005	15896661				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2		Germany	CDC GDPinfo	34	Hs.445040			Molecular genetics and metabolism. 2005 Jun;85(2):157-9	Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.		607008	14952	2	2005	Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD.	Cohort MCADD patients identified by neonatal screening Cohort unstreened patietns with identical genotypes 										
138342		medium-chain acyl-CoA dehydrogenase deficiency	METABOLIC	MET	Lipid Metabolism, Inborn Errors	1	1p31	ACADM	75962869	76001771		Blois, B.  et al. 2005	15902558				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			Journal of inherited metabolic disease. 2005 ;28(4):551-6	Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.		607008	14953	2	2005	We have demonstrated a relationship between heterozygosity for 985A>G and C(8)-acylcarnitine levels. These results contribute to the interpretation of C(8)-acylcarnitine levels and the establishment of a more clinically relevant screening cut-off point.	Cohort blood spots from newborns Nova Scotia 										
138343		MCADD (medium chain acyl-coA hydrhydrogenase defin	OTHER	OTH		1	1p31	ACADM	75962869	76001771		Waddell, L.  et al. 2005	16291504				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			CDC GDPinfo	34	Hs.445040			Molecular genetics and metabolism. 2006 Jan;87(1):32-9	Medium-chain acyl-CoA dehydrogenase deficiency:Genotype-biochemical phenotype correlations.		607008	14954	2	2005												
138344	N	hyperlipidemia	METABOLIC	MET	Hyperlipidemias	6	6q25.3-q26	ACAT2	160103074	160120077		Katsuren, K.  et al. 2003	12621162				Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005891.1			CDC GDPinfo	39	Hs.571037			Journal of atherosclerosis and thrombosis. 2003 ;10(1):32-6	Effects of a new single-nucleotide polymorphism in the Acyl-CoA:cholesterol acyltransferase-2 gene onplasma lipids and apolipoproteins in patients with hyperlipidemia.		100678	8296	2	2003	Although further studies are needed, our data suggest that the ACAT-2 gene may not affect lipid levels in humans.	Case:91 unrelated hyperlipidemic subjects (40 males and 51:females);Control:92 unrelated normolipidemic subjects (46 males and 46:females)										
138345		atherosclerosis, coronary; lipoproteins	CARDIOVASCULAR	CARD	Coronary Artery Disease|Dyslipidemias|Genetic Predisposition to Disease	6	6q25.3-q26	ACAT2	160103074	160120077		He, X.  et al. 2005	16195894				Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005891.1			CDC GDPinfo	39	Hs.571037			Human genetics. 2005 Dec;118(4-Mar):393-403	Acyl-CoA: cholesterol acyltransferase-2 genepolymorphisms and their association with plasma lipids and coronary artery disease risks.		100678	14958	2	2005												
138346		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	6	6q25.3-q26	ACAT2	160103074	160120077		McCarthy, J. J.  et al. 2003	14557872				Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005891.1			CDC GDPinfo	39	Hs.571037			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		100678	17773	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
138347		lipids; lipoproteins	METABOLIC	MET	Hyperlipidemias	6	6q25.3-q26	ACAT2	160103074	160120077		Ohta, T.  et al. 2004	15158756				Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005891.1			CDC GDPinfo	39	Hs.571037			Biochimica et biophysica acta. 2004 Jun;1682(3-Jan):56-62	The influence of the acyl-CoA:cholesterolacyltransferase-1 gene (-77G-->A) polymorphisms on plasma lipid and apolipoprotein levels in normolipidemic and hyperlipidemic subjects		100678	20241	2	2004	 Two variants in ACAT-1 gene were identified in subjects with hyperlipidemia. -77G-->A variant affects plasma HDL concentrations only in hyperlipidemic subjects. These data suggest that the intracellular FC concentration might modulate plasma HDL concentrations.	Control:178 unrelated normolipidemic subjects;Case:441 unrelated hyperlipidemic subjects										
138349	Y	diabetic retinopathy.	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 1	9	9q22	ALDRL2				Kao YL et al. 1999	10724095				aldehyde reductase (aldose reductase)-like 2				KGB	233				Diabetes research and clinical practice. 1999 Nov;46(2):155-60	An aldose reductase intragenic polymorphism associated with diabetic retinopathy.			488	1	1999												
138350	Y	diabetic retinopathy.	RENAL	REN	Diabetic Retinopathy|Genetic Predisposition to Disease	9	9q22	ALDRL2				Fujisawa T et al. 1999	10656235				aldehyde reductase (aldose reductase)-like 2				KGB	233				Diabetic medicine. 1999 Dec;16(12):1044-7	Length rather than a specific allele of dinucleotide repeat in the 5' upstream region of the aldose reductase gene is associated with diabetic retinopathy.			489	1	1999	 (CA)n repeat length, rather than a specific allele, in the 5' upstream region of the AR gene is associated with diabetic retinopathy. These data suggest that the AR locus plays a role in genetic susceptibility to diabetic retinopathy and that dinucleotide repeats in genomic DNA may be related to disease predisposition.											
138352	Y	diabetes, type 2	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	9	9q22	ALDRL2				Neamat-Allah M et al. 2001	11703436				aldehyde reductase (aldose reductase)-like 2				KGB	233				Diabetic medicine. 2001 Nov;18(11):906-14	Analysis of the association between diabetic nephropathy and polymorphisms in the aldose reductase gene in Type 1 and Type 2 diabetes mellitus.			491	1	2001	 Meta-analyses provide more convincing evidence of a role for the ALR2-106 marker than for the microsatellite marker in diabetic nephropathy (DN). More studies are now required to confirm these results and to establish whether the ALR2-106 polymorphism has a functional role in DN.											
138353	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	9	9q22	ALDRL2				Ikegishi Y et al. 1999	10579460				aldehyde reductase (aldose reductase)-like 2		Japanese	Japan	KGB	233				Life sciences. 1999 ;65(20):2061-70	Z-4 allele upstream of the aldose reductase gene is associated with proliferative retinopathy in Japanese patients with NIDDM and elevated luciferase gene transcription in vitro.			492	1	1999												
138354	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	9	9q22	ALDRL2			n	Maeda S et al. 1999	10334324				aldehyde reductase (aldose reductase)-like 2		Japanese	Japan	KGB	233				Diabetes. 1999 Feb;48(2):420-2	Diabetic nephropathy is not associated with the dinucleotide repeat polymorphism upstream of the aldose reductase (ALR2) gene but with erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes.			493	1	1999												
138355	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus|Diabetes Mellitus, Type 2|	9	9q22	ALDRL2				Ko BC et al. 1995	7789640			promoter	aldehyde reductase (aldose reductase)-like 2			China|Hong Kong	KGB	233				Diabetes. 1995 Jul;44(7):727-32	An (A-C)n dinucleotide repeat polymorphic marker at the 5' end of the aldose reductase gene is associated with early-onset diabetic retinopathy in NIDDM patients.			494	1	1995												
138357		diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	9	9q22	ALDRL2				Ichikawa F et al. 1999	10510950	(A-C)n dinucleotide repeat		promoter	aldehyde reductase (aldose reductase)-like 2		Japanese	Japan	KGB	233				Diabetic medicine. 1999 Sep;16(9):744-8	Association of an (A-C)n dinucleotide repeat polymorphic marker at the 5'-region of the aldose reductase gene with retinopathy but not with nephropathy or neuropathy in Japanese patients with Type 2 diabetes mellitus.			496	1	1999	 The (A-C)n dinucleotide repeat polymorphism may be a useful genetic marker to screen for patients at high risk of retinopathy.											
138358	N	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease|	9	9q22	ALDRL2			n	Dyer PH et al. 1999	10491768				aldehyde reductase (aldose reductase)-like 2		caucasian		KGB	233		diabetic nephropathy		Diabetologia. 1999 Aug;42(8):1030-1	The 5'-end polymorphism of the aldose reductase gene is not associated with diabetic nephropathy in Caucasian type I diabetic patients.			497	1	1999												
138359	Y	diabetic retinopathy	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 1	9	9q22	ALDRL2				Kao YL et al. 1999	10342825			promoter	aldehyde reductase (aldose reductase)-like 2		adolescents		KGB	233				Diabetes. 1999 Jun;48(6):1338-40	A novel polymorphism in the aldose reductase gene promoter region is strongly associated with diabetic retinopathy in adolescents with type 1 diabetes.			498	1	1999												
138361	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	9	9q22	ALDRL2				Lee SC et al. 2001	11449315			promoter	aldehyde reductase (aldose reductase)-like 2		Chinese	Hong Kong	KGB	233				Ophthalmic genetics. 2001 Jun;22(2):63-7	Association of retinopathy with a microsatellite at 5' end of the aldose reductase gene in Chinese patients with late-onset Type 2 diabetes.			500	1	2001												
138362	Y	diabetic nephropathy	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|	9	9q22	ALDRL2				Heesom AE et al. 1997	9000706				aldehyde reductase (aldose reductase)-like 2				KGB	233				Diabetes. 1997 Feb;46(2):287-91	Polymorphism in the 5'-end of the aldose reductase gene is strongly associated with the development of diabetic nephropathy in type I diabetes.			501	1	1997												
138363	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	9	9q22	ALDRL2				Liu YF et al. 2002	11874426				aldehyde reductase (aldose reductase)-like 2		Chinese	China|Hong Kong	KGB	233				Diabetic medicine. 2002 Feb;19(2):113-8	Diabetic nephropathy is associated with the 5'-end dinucleotide repeat polymorphism of the aldose reductase gene in Chinese subjects with Type 2 diabetes.			502	1	2002	 The 5' -ALR2 dinucleotide repeat polymorphism is associated with the development of diabetic nephropathy in Southern Chinese with Type 2 diabetes.											
138364		insulin	METABOLIC	MET		1	1p21	AMY1B	103999663	104008696		Baltova, S. D.   2005	16152770				amylase, alpha 1B; salivary				CDC GDPinfo	277				Folia medica. 2005 ;47(1):37-41	On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).		104701	20433	2	2005	 The difference between the observed theoretically expected types of amylase is not significant so the population studied is in genetic balance regarding the enzyme system. This population does not differ significantly from other populations in gene frequency. A tendency of West-Eastern geographical distribution is evident. Allele frequencies of 1a and 2a tend to increase in that direction. Isoenzyme frequencies in the studied Bulgarian population do not differ significantly from those of the European populations.											
138365		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		1	1p21	AMY2A	103961521	103969923		Scheil, H. G.  et al. 2004	15648851				Amylase, alpha 2A; pancreatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008219			CDC GDPinfo	279	Hs.558298			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		104650	10795	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
138366		insulin	METABOLIC	MET		1	1p21	AMY2A	103961521	103969923		Baltova, S.  et al. 2004	15571103				Amylase, alpha 2A; pancreatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008219	German		CDC GDPinfo	279	Hs.558298			Collegium antropologicum. 2004 ;28 Suppl 2:291-5	Population genetic studies of the pancreatic amylase (AMY2, E.C. 3.2.1.1) in Bulgaria.		104650	15182	2	2004	Compared with other populations, the Bulgarian sample clustered with samples from Romania, Hungary, Germany and Switzerland, with larger distances to Albania, Greece and Macedonia.	Cohort 2,346 individuals from south-central and south-eastern Bulgaria Bulgaria 										
138367		insulin	METABOLIC	MET		1	1p21	AMY2A	103961521	103969923		Baltova, S. D.   2005	16152770				Amylase, alpha 2A; pancreatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008219			CDC GDPinfo	279	Hs.558298			Folia medica. 2005 ;47(1):37-41	On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).		104650	24036	2	2005	 The difference between the observed theoretically expected types of amylase is not significant so the population studied is in genetic balance regarding the enzyme system. This population does not differ significantly from other populations in gene frequency. A tendency of West-Eastern geographical distribution is evident. Allele frequencies of 1a and 2a tend to increase in that direction. Isoenzyme frequencies in the studied Bulgarian population do not differ significantly from those of the European populations.											
138369		osteonecrosis	METABOLIC	MET	Osteonecrosis|Anemia, Sickle Cell|Genetic Predisposition to Disease	15	15q21-q22	ANXA2	58426641	58477477		Baldwin, C.  et al. 2005	15784727				Annexin A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002858.1			CDC GDPinfo	302	Hs.511605			Blood. 2005 Jul;106(1):372-5	Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.		151740	8646	2	2005	These genes are important in bone morphology, metabolism and vascular disease. Our results may provide insight into the pathogenesis of osteonecrosis in sickle cell disease, help identify individuals who are at high risk for osteonecrosis, and thus allow earlier and more effective therapeutic intervention.	Case sickle cell patients with osteonecrosis;Control sickle cell patients without osteonecrosis										
138370	N	lipid levels	METABOLIC	MET	Hyperlipidemias	11	11q23.1-q23.2	APOC3	116205833	116208997		Buzza M et al. 2001	11572515				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Italian	Australia|Greece|Ireland|Italy	KGB	345	Hs.73849			Annals of human biology. 2001 Sep-Oct;28(5):481-90	Apolipoprotein AI and CIII gene polymorphisms and their association with lipid levels in Italian Greek and Anglo-Irish populations of Australia.		107720	648	1	2001	 Because only two statistically significant associations were detected among a number of comparisons, our data suggest that the apo AI and CIII polymorphisms play only a very limited role in mediating variation in lipid concentrations in these three ethnic groups.	Cohort normal, healthy, adults from three ethnic groups of Australia--Italian, Greek and Anglo-Irish										
138371		Obesity	METABOLIC	MET	Hypertriglyceridemia|Obesity	11	11q23.1-q23.2	APOC3	116205833	116208997		Ko YL 1997	9272150	SstI polymorphism			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		TJB	345	Hs.73849			Human genetics. 1997 Sep;100(4-Mar):327-33			107720	7134	1	1997		Case:339; Control:257										
138372	Y	Longevity	AGING	AGE		11	11q23.1-q23.2	APOC3	116205833	116208997	p<0.005	Anisimov SV 2001	11193221	T-455C			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Russian		TJB	345	Hs.73849			The journals of gerontology Series A, Biological sciences and medical sciences. 2001 Jan;56(1):B27-32	Age-associated accumulation of the apolipoprotein C-III gene T-455C polymorphism C allele in a Russian population		107720	7135	1	2001	The increased incidence of the C allele with advanced age indicates that this variant promoter is associated with longevity. The greater incidence of this allele is detectable only in adults older than 80 years of age.	Cohort 137 elderly individuals (70-106 years old)										
138373	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23.1-q23.2	APOC3	116205833	116208997	n	Kee F 1999	10428310	SstI			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	?	France|Ireland	KGB	345	Hs.73849			Atherosclerosis. 1999 Jul;145(1):187-95			107720	7136	1	1999		Case:614; Control:764										
138374	N	variant insulin response element	OTHER	OTH	Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997	n	Shoulders CC et al. 1996	8882875				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Italian	Italy	KGB	345	Hs.73849			Human genetics. 1996 Nov;98(5):557-66	Hypertriglyceridemia and the apolipoprotein CIII gene locus: lack of association with the variant insulin response element in Italian school children.		107720	7137	1	1996												
138375	Y	variation in plasma lipoproteins	METABOLIC	MET	Arteriosclerosis|Hypertriglyceridemia|Disease Susceptibility	11	11q23.1-q23.2	APOC3	116205833	116208997		Hegele RA et al. 1997	9409252			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Ontario	KGB	345	Hs.73849			Arteriosclerosis, thrombosis, and vascular biology. 1997 Nov;17(11):2753-8	Common genomic variation in the APOC3 promoter associated with variation in plasma lipoproteins.		107720	7138	1	1997												
138376	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Zeng Q et al. 1995	7705829				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese	Japan	KGB	345	Hs.73849			Human genetics. 1995 Apr;95(4):371-5	An apolipoprotein CIII marker associated with hypertriglyceridemia in Caucasians also confers increased risk in a west Japanese population.		107720	7139	1	1995												
138378	Y	cardiovascular risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Glucose Intolerance|Postoperative Complications	11	11q23.1-q23.2	APOC3	116205833	116208997		Rodrigo E et al. 2002	11959336				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Spain	KGB	345	Hs.73849	renal transplant		Transplantation proceedings. 2002 Feb;34(1):379	Association between the SstI polymorphism of the apolipoprotein C-III gene glucose intolerance and cardiovascular risk in renal transplant recipients.		107720	7141	1	2002	The apo C-III allele frequencies in our group of renal transplant recipients is similar to the general population. In our group of renal transplant recipients, this polymorphism appeared to have little association with the prevalence of diabetes mellitus, glucose intolerance, cardiovascular complications, and hyperlipidemia. Other factors may influence more than this polymorphism on the development of insulin resistance in renal transplant	Cohort 110 consecutively examined patients undergoing kidney transplantation										
138379	Y	diverse hyperlipidaemic phenotypes	OTHER	OTH	Hyperlipidemias	11	11q23.1-q23.2	APOC3	116205833	116208997		Zalman MA et al. 1987	2879788				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			KGB	345	Hs.73849			Human genetics. 1987 Jan;75(1):62-5	Association of a DNA polymorphism in the apolipoprotein C-III gene with diverse hyperlipidaemic phenotypes.		107720	7142	1	1987												
138380	Y	increased number of circulating VLDL and IDL particles	OTHER	OTH	Hyperlipidemia, Familial Combined	11	11q23.1-q23.2	APOC3	116205833	116208997		Ribalta J et al. 1997	9215535				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			KGB	345	Hs.73849			Journal of lipid research. 1997 Jun;38(6):1061-9	A variation in the apolipoprotein C-III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia.		107720	7143	1	1997												
138381	Y	Plasma Lipid Levels	METABOLIC	MET	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Tai ES 2002	12006394	G allele at 3238C>G			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			TJB	345	Hs.73849			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):805-10			107720	7144	1	2002												
138382	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997	n	Hirashiki A 2003	14563588	482C3T			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese	Japan	KGB	345	Hs.73849			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		107720	7145	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
138383	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997	n	Hirashiki A 2003	14563588	1100C3T			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese	Japan	KGB	345	Hs.73849			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		107720	7146	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
138384	Y	cholesterol	METABOLIC	MET	Coronary Disease|Hypercholesterolemia|Disease Susceptibility	11	11q23.1-q23.2	APOC3	116205833	116208997		Shimokata K 2004	14709372	1100C-T			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese		KGB	345	Hs.73849			Atherosclerosis. 2004 Jan;172(1):167-73	Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia.		107720	7147	1	2004		Case:3085										
138385		diabetes, type 2	METABOLIC	MET	Coronary Disease|Hypertension|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Tas S 1994	7909870				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			Y Wang	345	Hs.73849	Complications		Lancet. 1994 May;343(8907):1194-5	Blood pressure, coronary artery disease, and glycaemic control in type 2 diabetes mellitus: relation to apolipoprotein-CIII gene polymorphism.		107720	7148	1	1994												
138386		diabetes, type 2	METABOLIC	MET	Arteriosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Renard E 1991	1677323				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			Y Wang	345	Hs.73849	Complications		Diabetic medicine. 1991 May;8(4):354-60	DNA restriction polymorphisms of the apolipoprotein AI-CIII-AIV gene cluster: a genetic determinant of atherosclerosis in type 2 (non-insulin-dependent) diabetes mellitus.		107720	7149	1	1991												
138387		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Trembath RC 87	3113537				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			Y Wang	345	Hs.73849	Complications		British medical journal (Clinical research ed). 1987 Jun;294(6587):1577-8	Deoxyribonucleic acid polymorphism of the apoprotein AI-CIII-AIV gene cluster and coronary heart disease in non-insulin-dependent diabetes.		107720	7150	1	1987												
138388		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Marcais C 2000	11126401				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			Y Wang	345	Hs.73849	Complications		Diabetologia. 2000 Nov;43(11):1346-52	Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency.		107720	7151	1	2000	Our results strongly support the hypothesis that severe hyperlipaemia in Type II diabetes crucially depends on genetic factors which impair the clearance of triglyceride-rich lipoproteins.	Cohort 116 normolipaemic patients with Type II diabetes mellitus Cohort 28 mildly hypertriglyceridaemic patients with Type II diabetes mellitus Cohort 32 severely hypertriglyceridaemic patients with Type II diabetes mellitus										
138389		apoAI	UNKNOWN	UNK	Coronary Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Miller, M.  et al. 2001	11152845			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Indian	United States|India	CDC GDPinfo	345	Hs.73849			The American journal of cardiology. 2001 Jan;87(2):220-1, A8	Prevalence of the APOC3 promoter polymorphisms T-455C and C-482T in Asian-Indians.		107720	8727	2	2001	Polymorphisms in the APOC3 promoter (-455 T/C and -482 C/T) were frequently encountered in young Asian-Indians and they correlated with reduced concentrations of apolipoprotein A-I.	Cohort young Asian-Indians 										
138390	Y	longevity	AGING	AGE		11	11q23.1-q23.2	APOC3	116205833	116208997		Anisimov, S. V.  et al. 2001	11193221				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Russian		CDC GDPinfo	345	Hs.73849			The journals of gerontology Series A, Biological sciences and medical sciences. 2001 Jan;56(1):B27-32	Age-associated accumulation of the apolipoprotein C-III gene T-455C polymorphism C allele in a Russian population		107720	8728	2	2001	The increased incidence of the C allele with advanced age indicates that this variant promoter is associated with longevity. The greater incidence of this allele is detectable only in adults older than 80 years of age.	Cohort 137 elderly individuals (70-106 years old) 										
138391	N	lipoproteins	METABOLIC	MET	Hypercholesterolemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Hubacek, J. A.  et al. 2001	11284423				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Cas Lek Cesk. 2001 Feb;140(3):79-81	[Polymorphisms in genes for cholesterol ester transfer protein, apolipoprotein C-III and lipoprotein lipase in children with high and low cholesterol levels] ]		107720	8729	2	2001	 Common polymorphisms in the CETP and apo CIII genes do not determine the plasma lipid levels in childhood. The carriers of the rare allele in the LPL gene could be genetically predisposed to low plasma lipid levels.	Cohort 168 children selected from opposite ends of the cholesterol distribution curve of 2000 children(82 children in high cholesterol group and 86 children in low cholesterol group) 										
138392		insulin; apoB; apoC-III	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Dallongeville, J.  et al. 2001	11443500			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			International journal of obesity and related metabolic disorders. 2001 Jul;25(7):1012-7	Polymorphisms in the insulin response element of APOC-III gene promoter influence the correlation between insulin and triglycerides or triglyceride-rich lipoproteins in humans.		107720	8730	2	2001	 These results suggest that the relationship between plasma insulin and triglyceride-rich lipoprotein levels is partly influenced by polymorphisms in APOC-III insulin response element.	Cohort 983 subjects (485 men and 498 women), aged between 35 and 65 y, randomly sampled from the electoral rolls Northern France 										
138393		coronary heart disease; lipids; lipoproteins	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Russo, G. T.  et al. 2001	11500189				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2001 Sep;158(1):173-81	Association of the Sst-I polymorphism at the APOC3 gene locus with variations in lipid levels, lipoprotein subclass profiles and coronary heart disease risk: the Framingham offspring study.		107720	8731	2	2001	Despite the described associations with lipid and glucose metabolism related risk factors, we did not find any significant increase in CHD risk associated with the S2 allele in this population.	Cohort Framingham Offspring Study participants 										
138394		cholesterol; cholesterol, HDL; cholesterol, LDL; triacylglycerol	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Perez-Martinez, P.  et al. 2001	11837227				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Nutrition, metabolism, and cardiovascular diseases. 2001 Aug;11(4):237-43	Interaction between smoking and the Sstl polymorphism of the apo C-III gene determines plasma lipid response to diet.		107720	8733	2	2001	 Smoking interacts with the apo CM polymorphism and determines the level of lipid response to dietary changes.	Cohort 59 	diet smoking (tobacco)									
138395		cholesterol, HDL; triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Corella, D.  et al. 2002	11893778				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2002 Mar;43(3):416-27	Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population:interaction with tobacco smoking and the APOE locus.		107720	8734	2	2002	Understanding this gene-gene-environmental interaction may facilitate preventive interventions to reduce coronary artery disease risk.	Cohort 1029 Spanish individuals 	alcohol physical activity smoking (tobacco)	APOE	epsilon4	LPL				Y		coronary artery disease
138396	Y	diabetes, type 2; hypertension; atherosclerosis; cerebrovascular disease; dyslipemia	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Glucose Intolerance|Postoperative Complications	11	11q23.1-q23.2	APOC3	116205833	116208997		Rodrigo, E.  et al. 2002	11959336				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Spain	CDC GDPinfo	345	Hs.73849			Transplantation proceedings. 2002 Feb;34(1):379	Association between the SstI polymorphism of the apolipoprotein C-III gene, glucose intolerance and cardiovascular risk in renal transplant recipients		107720	8735	2	2002	The apo C-III allele frequencies in our group of renal transplant recipients is similar to the general population. In our group of renal transplant recipients, this polymorphism appeared to have little association with the prevalence of diabetes mellitus, glucose intolerance, cardiovascular complications, and hyperlipidemia. Other factors may influence more than this polymorphism on the development of insulin resistance in renal transplant	Cohort 110 consecutively examined patients undergoing kidney transplantation 										
138397		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Chhabra, S.  et al. 2002	12052247				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Indian	India	CDC GDPinfo	345	Hs.73849			BMC genetics [electronic resource]. 2002 Jun;3:9	Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians.		107720	8736	2	2002	 Our study shows a significant association between rare S2 allele and HTG in Asian Indians.	Control:105 healthy male volunteers without:hypertriglyceridemia;Case:34 healthy male volunteers with hypertriglyceridemia northern India										
138398		lipids; glucose; atherosclerosis	METABOLIC	MET	Arteriosclerosis|Diabetes Mellitus|Insulin Resistance|Metabolic Syndrome X|Hyperlipidemias|Diabetes Complications	11	11q23.1-q23.2	APOC3	116205833	116208997		Rodrigo, E.  et al. 2002	12118856				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			American journal of transplantation. 2002 Apr;2(4):343-8	Apolipoprotein C-III and E polymorphisms and cardiovascular syndrome, hyperlipidemia, and insulin resistance in renal transplantation.		107720	8737	2	2002	There were no significant differences in the frequency of any of the polymorphisms among patients with dyslipidemia and impaired glucose tolerance. As the number of patients in our sample was small, larger studies are needed to verify these issues. While in the studied population C-III polymorphism appears to have little association with the prevalence of atherosclerotic complications, E4 allele should be considered as a genetic marker of coronary artery disease and global atherosclerosis in renal transplant patients.	Cohort 110 consecutively examined patients undergoing kidney transplantation (age range 24-73 years 										
138399		triglyceride	METABOLIC	MET	Body Weight	11	11q23.1-q23.2	APOC3	116205833	116208997		Minihane, A. M.  et al. 2002	12176399	-2854T>G			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Biochimica et biophysica acta. 2002 Aug;1583(3):311-4	Influence of the APOC3 -2854T>G polymorphism on plasma lipid levels: effect of age and gender		107720	8738	2	2002	In a group of healthy adults, this polymorphism was associated with circulating triglycerides, with 55% lower fasting levels in the homozygous wild-type (TT) compared to the homozygous rare allele (GG) genotype. Age and gender had a significant impact on genotype-triglyceride interactions.	Cohort healthy adults 										
138400	Y	insulin sensitivity	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Perez-Jimenez, F.  et al. 2002	12189450				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Diabetologia. 2002 Aug;45(8):1196-200	The SstI polymorphism of the apo C-III gene is associated with insulin sensitivity in young men		107720	8739	2	2002	There was no difference between carriers and non-carriers of the S2 allele in relation to incidence and sensitivity; although on subgroup analysis there was an effect in men but not in women.	Cohort 59 healthy young subjects eating a westernised diet (30 men and 29 women) 	diet									
138401		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Olivieri, O.  et al. 2002	12235176				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2002 Sep;43(9):1450-7	ApoC-III gene polymorphisms and risk of coronary artery disease.		107720	8740	2	2002	In logistic regression models, homozygosity for -455C variant was associated with a significantly increased risk of CAD (OR = 2.5 and 2.18 for unadjusted and adjusted models, respectively) suggesting that it represents an independent genetic susceptibility factor for CAD.	Control:251 patients with normal coronary arteriograms;Case:549 patients who had angiographically documented coronary atherosclerosis										
138402	Y	obesity	METABOLIC	MET	Obesity	11	11q23.1-q23.2	APOC3	116205833	116208997		Couillard, C.  et al. 2003	12588953				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2003 May;44(5):986-93	Effect of apolipoprotein CIII gene polymorphisms on the lipoprotein-lipid profile of viscerally obese men		107720	8741	2	2003	Results of the present study support the notion of a hypertriglyceridemic effect associated with the apoCIII SstI polymorphism which could modulate the magnitude of the dyslipidemic state in abdominally obese patients.	Cohort 122 viscerally obese men 										
138403	N	hypertriglyceridemia	METABOLIC	MET	Hyperlipoproteinemia Type IV	11	11q23.1-q23.2	APOC3	116205833	116208997		Liu, R.  et al. 2001	12600077				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Hua xi yi ke da xue xue bao. 2001 Jun;32(2):175-8, 190	[Apolipoprotein C III gene Sst I polymorphism in patients with endogenous hypertriglyceridemia in Chinese population]		107720	8742	2	2001	 These results suggest that the Sst I polymorphism of the apoC III gene was not associated with endogenoushypertriglyceridemica in Chinese population.	Case:176 hypertriglyceridemic patients;Control:199 healthy subjects										
138404	Y	lipoprotein, LDL	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Brown, S.  et al. 2003	14612212			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2003 Oct;170(2):307-13	Interaction between the APOC3 gene promoter polymorphisms, saturated fat intake and plasma lipoproteins.		107720	8745	2	2003	 Compared to a diet high in saturated fat, a habitually low saturated fat diet is associated with a beneficial lipoprotein profile only among homozygotes of the APOC3 promoter 455T-625T polymorphism.	Cohort 336 randomly selected residents from Costa Rica 										
138405		triglycerides; hypertension; lipids	METABOLIC	MET	Hypertension|Insulin Resistance	11	11q23.1-q23.2	APOC3	116205833	116208997		Espino-Montoro, A.  et al. 2003	14650351				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):194-201	Influence of polymorphism (RFLP-sstI) at the apolipoprotein C-III gene locus on the lipoprotein metabolism and insulin resistance in essential hypertensive patients. Interaction between gender and genetic polymorphism.		107720	8746	2	2003	 These results provide evidence of interaction between gender and the Sst1 polymorphism of the apo C-III on lipoprotein metabolism and insulin resistance in essential hypertensive patients. However, the studied mutation does not contribute to blood pressure levels in essential hypertensive patients (crossover study).	Cohort 104 hypertensive patients 										
138406		triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Artery Disease|Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Chhabra, S.  et al. 2004	15124908				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		India	CDC GDPinfo	345	Hs.73849			Molecular and cellular biochemistry. 2004 Apr;259(2-Jan):59-66	Apolipoprotein C3 SstI polymorphism in the risk assessment of CAD.		107720	8747	2	2004	Thus, our study reveals that rare S2 allele may be employed as a susceptibility marker for high TG. However, high TG or S2 allele alone may not contribute to the etiology of CAD.	Control:151 normal controls (free of heart disease);Case:158/35 patients with > or = 70% stenosis in one or more coronary artery (n=158, angiographically proven CAD patients) and subjects with < 70% stenosis (n=35) Northern plains of India										
138407	Y	diabetes, type 2; atherosclerosis, generalized	METABOLIC	MET	Carotid Stenosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Chen, X.  et al. 2004	15364160				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese	China	CDC GDPinfo	345	Hs.73849			Diabetes research and clinical practice. 2004 Oct;66(1):41-7	Association of serum apolipoprotein C III levels and apolipoprotein C III gene Sst I polymorphism with carotid intima-media thickness in Chinese type 2 diabetic patients.		107720	8748	2	2004	Thus, our study suggested that apo C III is an independent risk factor for atherosclerotic diseases in Chinese type 2 diabetes.	Cohort 78 unrelated Chinese patients with type 2 diabetes 										
138408	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q23.1-q23.2	APOC3	116205833	116208997		Klein, R. L.  et al. 2004	15375785				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Metabolism:  clinical and experimental. 2004 Oct;53(10):1296-304	Apolipoprotein C-III protein concentrations and gene polymorphisms in type 1 diabetes: associationswith lipoprotein subclasses.		107720	8749	2	2004	In summary, elevated apoCIII concentration was associated with risk factors for cardiovascular disease in normolipidemic type 1 diabetic patients through associated changes in lipoprotein subfraction distributions, which were independent of apoCIII genotype.	Cohort 409 type 1 diabetic patients after an overnight fast 										
138409		cardiovascular disease	CARDIOVASCULAR	CARD	Heart Diseases|Insulin Resistance	11	11q23.1-q23.2	APOC3	116205833	116208997		Olivieri, O.  et al. 2004	15576429				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Clinical chemistry. 2005 Feb;51(2):360-7	Apolipoprotein C-III, n-3 Polyunsaturated Fatty Acids, and "Insulin-Resistant" T-455C APOC3 Gene Polymorphism in Heart Disease Patients: Example ofGene-Diet Interaction		107720	8751	2	2004	 Patients homozygous for the -455C APOC3 variant are poorly responsive to the apo C-III-lowering effects of n-3 PUFAs.	Cohort 848 heart disease patients who had coronary angiography 	long-chain n-3 polyunsaturated fatty acids									
138410	Y	lipid metabolism disorders; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Hyperlipidemias|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Guettier, J. M.  et al. 2004	15598690				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Indian	India	CDC GDPinfo	345	Hs.73849			The Journal of clinical endocrinology and metabolism. 2005 Mar;90(3):1705-11	Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein C-III genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population.		107720	8753	2	2004	The association of the polymorphisms with MS and dyslipidemia could contribute to the high CVD prevalence in this population.	Case:110 Asian Indian diabetes cases from the Chennai Urban Population Study South India;Control:70:controls										
138411		nephropathy in other diseases; retinopathy	RENAL	REN	Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Klein, R. L.  et al. 2005	15642486				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of diabetes and its complications. 2005 Jan-Feb;19(1):18-25	Apolipoprotein C-III protein concentrations and gene polymorphisms in Type 1 diabetes: associationswith microvascular disease complications in the DCCT/EDIC cohort.		107720	8754	2	2005	 Elevated apoCIII levels have been associated with increased macrovascular disease risk. In the DCCT/EDIC cohort of patients, there was an independent positive association of apoCIII level with microvascular complications of Type 1 diabetes.	Cohort 409 patients in the DCCT/EDIC cohort of patients with Type 1 diabetes 										
138412		atherosclerosis, coronary; hypertriglyceridemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Liu, H. K.  et al. 2005	15715433				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Yi chuan xue bao. 2005 Jan;32(1):8-Nov	Association of Sst I polymorphism in apolipoprotein C3 gene with hypertriglyceridaemia in coronary atherosclerotic heart disease and type II diabetes mellitus in Chinese population.		107720	8755	2	2005	The minor allele S2, which was associated with both CHD with HTG and NIDDM with HTG and may contribute to the susceptibility of hypertriglyceridemia in CHD and NIDDM patients, may be one of the genetic predispositions to both CHD with HTG and NIDDM with HTG in Chinese population.	Case:246/267 Chinese non-insulin-dependent diabetes (n=246) and coronary atherosclerotic heart disease (n=267):patients;Control:491 unrelated healthy controls										
138413	Y	lipid metabolism disorders; hyperlipidemia	METABOLIC	MET	HIV Infections|Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Tarr, P. E.  et al. 2005	15809899				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Switzerland	CDC GDPinfo	345	Hs.73849			The Journal of infectious diseases. 2005 May;191(9):1419-26	Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders.		107720	8756	2	2005	 Variant alleles of APOE and APOC3 contribute to an unfavorable lipid profile in patients with HIV. Interactions between genotypes and ART can lead to severe hyperlipidemia. Genetic analysis may identify patients at high risk for severe ritonavir-associated hypertriglyceridemia.	Cohort 329 antiretroviral therapy-treated HIV patients 	antiretroviral									
138414	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Sun, Y.  et al. 2005	15862889				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese	China	CDC GDPinfo	345	Hs.73849			Neuroscience letters. 2005 Jun;380(3):219-22	The APOC3 SstI polymorphism is weakly associated with sporadic Alzheimer's disease in a Chinese population.		107720	8758	2	2005	We conclude that  the rare APOC3 G allele may offer some protection against the development of sporadic AD in APOE epsilon4 noncarriers in Chinese.	Case:165 Chinese sporadic Alzheimer's diasese patients;Control:174 age-matched elderly individuals										
138415		atherosclerosis, coronary; diabetes, type 2; lipids; stroke, ischemic	CARDIOVASCULAR	CARD	Arteriosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Hegele, R. A.  et al. 2001	11512679				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Africa|Trinidad and Tobago|Asia, Southeastern	CDC GDPinfo	345	Hs.73849			Human biology; an international record of research. 2001 Aug;73(4):525-31	Allele frequencies for candidate genes in atherosclerosis and diabetes among Trinidadian neonates.		107720	12175	2	2001	Thus, differences in genetic architecture alone may not explain the wide disparities in disease prevalence between these two subpopulations. It is very likely that environmental factors, or unmeasured genetic factors, influence the genetic susceptibility to disease in these subpopulations.	Cohort 184 neonates (81 consecutive neonates of African origin and 103 consecutive neonates of South Asian origin) Trinidad 										
138417		cholesterol, HDL; triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Arai, H.  et al. 2005	16205020				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese		CDC GDPinfo	345	Hs.73849			Journal of atherosclerosis and thrombosis. 2005 ;12(5):240-50	Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000.		107720	12193	2	2005												
138418		lipoproteins	METABOLIC	MET	Metabolic Syndrome X|Dyslipidemias	11	11q23.1-q23.2	APOC3	116205833	116208997			16343038				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Physiological research. 2005	Effect of gene polymorphisms on lipoprotein levels in patients with dyslipidemia of metabolic syndrome		107720	12194	2	2005												
138419	Y	triglycerides	METABOLIC	MET	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Waterworth, D. M.  et al. 2000	11116069				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Arteriosclerosis, thrombosis, and vascular biology. 2000 Dec;20(12):2663-9	Contribution of apolipoprotein C-III gene variants to determination of triglyceride levels and interaction with smoking in middle-aged men.		107720	15251	2	2000	Analysis in this large group of healthy men has allowed the identification of a statistically robust APOC3 genotype-smoking interaction, which now warrants further molecular study.	Cohort 2745 healthy men of a large cohort 	smoking (tobacco)									
138420		hypertriglyceridemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Marcais, C.  et al. 2000	11126401				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Diabetologia. 2000 Nov;43(11):1346-52	Severe hypertriglyceridaemia in Type II diabetes:involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency.		107720	15252	2	2000	Our results strongly support the hypothesis that severe hyperlipaemia in Type II diabetes crucially depends on genetic factors which impair the clearance of triglyceride-rich lipoproteins.	Cohort 116 normolipaemic patients with Type II diabetes mellitus Cohort 28 mildly hypertriglyceridaemic patients with Type II diabetes mellitus Cohort 32 severely hypertriglyceridaemic patients with Type II diabetes mellitus 										
138421		triglycerides; insulin; glucose	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Waterworth, D. M.  et al. 2001	11270684	(-482C > T)			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Asia	CDC GDPinfo	345	Hs.73849			Diabetologia. 2001 Feb;44(2):245-8	Variable effects of the APOC3-482C > T variant on insulin, glucose and triglyceride concentrations in different ethnic groups		107720	15254	2	2001	Allele frequencies of the -482C > T and associations with insulin, glucose and triglyceride concentrations vary considerably among ethnic groups. Although the results are consistent among white subjects across different studies, the associations among black subjects and South Asians differ.	Cohort 442 South Asians Cohort 462 subjects of West African and Afro-Caribbean origin Cohort 462 white subjects 										
138422		insulin; lipoproteins; C-peptide; proinsulin	METABOLIC	MET	HIV Infections|Hyperlipidemias|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Fauvel, J.  et al. 2001	11740190				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			AIDS (London, England). 2001 Dec;15(18):2397-406	An interaction between apo C-III variants and protease inhibitors contributes to high triglyceride/low HDL levels in treated HIV patients.		107720	15258	2	2001	 Apo C-III polymorphisms might identify a genetic predisposition to develop dyslipidaemia under PI therapy.	Cohort 60 consecutive male patients attending the HIV follow-up consultation during a 3 month period 	protease inhibitors									
138423		carotid artery intima-media thickness	CARDIOVASCULAR	CARD	Thrombosis	11	11q23.1-q23.2	APOC3	116205833	116208997		Zannad, F.  et al. 2001	11903304				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		France	CDC GDPinfo	345	Hs.73849			Clinical and experimental pharmacology & physiology. 2001 Dec;28(12):1007-10	Environmental and genetic determinants of intima-media thickness of the carotid artery.		107720	15260	2	2001	Associations between CIMT and polymorphisms in the apolipoprotein CIII, cholesteryl ester transfer protein, methylene tetrahydrofolate reductase and fibrinogen genes were observed and explained approximately 20% of CIMT variation in men. 8. In women, none of the studied polymorphisms was associated with CIMT variation. 9. Our study gives new perspectives for understanding CIMT variability in healthy middle-aged subjects.	Cohort 369 subjects (aged from 10 to 54 years) from the Stanislas cohort from 89 families 	alcohol smoking (tobacco)									
138424		insulin; lipids	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Waterworth, D. M.  et al. 2003	12697301			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Biochimica et biophysica acta. 2003 Apr;1637(3):200-6	Variants in the APOC3 promoter insulin responsive element modulate insulin secretion and lipids in middle-aged men.		107720	15263	2	2003	Taken together, the data shows that men who carry the rare alleles of the IRE variants have disturbed glucose homeostasis and an unfavourable lipid phenotype. The finding of an elevated 30-min NEFA may be an important mechanistic link between triglyceride-rich lipoprotein (TRL) metabolism and glucose homeostasis.	Cohort 223/279 middle-aged men (n=223) and women (n=279) 										
138425	Y	triacylglycerol	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Woo, S. K.  et al. 2003	14517726	T2854G			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Korean		CDC GDPinfo	345	Hs.73849			Journal of human genetics. 2003 ;48(11):551-5	The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean men.		107720	15264	2	2003	In conclusion, this is the first study to show that the apo CIII T2854G variants are associated with elevated postprandial TAG concentrations in the study population of Korean men.	Cohort 262 healthy and normolipidemic Korean men 	diet									
138426	Y	atherosclerosis, coronary; metabolism disorders	CARDIOVASCULAR	CARD	Coronary Artery Disease|Metabolic Syndrome X|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Olivieri, O.  et al. 2003	14563827				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2003 Dec;44(12):2374-81	Apolipoprotein C-III, metabolic syndrome, and risk of coronary artery disease.		107720	15265	2	2003	In conclusion, APOC3 polymorphism has a relevant impact on CAD risk of MS patents, thus suggesting a role for apo C-III-rich lipoproteins metabolism in the pathophysiology of cardiovascular disease.	Control:251 metabolic syndrome patients with normal coronary:arteries;Case:549 metabolic syndrome patients with angiographically documented coronary artery disease										
138427	Y	cholesterol, HDL; cholesterol, LDL; apoA1; apoB	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Descamps, O. S.  et al. 2004	15019539				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2004 Feb;172(2):287-98	Lipoprotein concentrations in newborns are associated with allelic variations in their mothers.		107720	15266	2	2004	 This is the first evidence that maternal genetic variations influence fetal lipoprotein concentrations, independent of the genetic status of the fetus and of the variations of maternal lipoprotein concentrations generated by these genetic variants. It suggests that proteic components of maternal lipoproteins strongly control the metabolism of maternal lipoproteins carried out at the surface of the placenta to assure the cholesterol delivery to the fetus.	Cohort 525 mothers of newborns and the newborns 										
138428		glucose tolerance; lipids; atherosclerosis, generalized	METABOLIC	MET	Arteriosclerosis	11	11q23.1-q23.2	APOC3	116205833	116208997		Putt, W.  et al. 2004	15175273				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Human molecular genetics. 2004 Aug;13(15):1587-97	Variation in USF1 shows haplotype effects, gene :gene and gene : environment associations withglucose and lipid parameters in the European Atherosclerosis Research Study II.		107720	15268	2	2004	Thus, in these healthy young men, variation in USF1 was influencing features of both glucose and lipid	Control controls from the European Atherosclerosis Research Study II offspring study;Case atherosclerosis subjects from the European Atherosclerosis Research Study II offspring study	body mass cholesterol glucose	USF1	475C>T	HSL	60C>G	APOC3	482C>T	Y	glucose and lipid	European Atherosclerosis Research Study II.
138429		cholesterol; triglycerides; lipoprotein	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Garenc, C.  et al. 2005	16015281				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			European journal of human genetics. 2005 Oct;13(10):1159-65	Effect of the APOC3 Sst I SNP on fasting triglyceride levels in men heterozygous for the LPL P207L deficiency.		107720	15271	2	2005												
138430		glucose tolerance; lipid metabolism	METABOLIC	MET	Microvascular Angina|Arteriosclerosis	11	11q23.1-q23.2	APOC3	116205833	116208997		Jansen, H.  et al. 2001	11427182			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Annals of human genetics. 2001 May;65(Pt 3):237-43	Interaction of the common apolipoprotein C-III (APOC3 -482C > T) and hepatic lipase (LIPC -514C > T) promoter variants affects glucose tolerance in young adults. European Atherosclerosis Research Study II (EARS-II).		107720	18033	2	2001		Cohort 714 healthy young males participating in the second European Atherosclerosis Research Study (EARS-II) 		APOC3	482C > T	LIPC	514C > T			Y		Atherosclerosis
138431		lipids	METABOLIC	MET	Coronary Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Talmud, P. J.  et al. 2001	11533368				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Pediatrics. 2001 Sep;108(3):E50	Age-related effects of genetic variation on lipid levels: The Columbia University BioMarkers Study.		107720	18034	2	2001	 All genotypes were associated with clear relationships to plasma lipid levels in adults, but the effects were weaker in their children, unless stressed by body fat. atherosclerosis, cardiovascular disease, child, lipids, genetics.	Cohort 495 children and their parents (n=353) in the Columbia University BioMarkers Study 1994-1998 										
138432	Y	lipoprotein	METABOLIC	MET	Myocardial Ischemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Humphries, S. E.  et al. 2002	12514935				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	non-Hispanic, Hispanic		CDC GDPinfo	345	Hs.73849			Nutrition, metabolism, and cardiovascular diseases. 2002 Aug;12(4):163-72	Loci for CETP, LPL, LIPC, and APOC3 affect plasma lipoprotein size and sub-population distribution in Hispanic and non-Hispanic white subjects: theColumbia University BioMarkers Study		107720	18035	2	2002	 These data confirm the role of genetic variants of CETP, LPL and APOC3 in determining the relationship between VLDL, LDL and HDL particles.	Cohort 264/95 Hispanic men (n=40) and women (n=223) and non-Hispanic Caucasian men (n=42) and women (n=53) 										
138433		glucose tolerance	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Waterworth, D. M.  et al. 2005	15949705				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Europe	CDC GDPinfo	345	Hs.73849			Biochimica et biophysica acta. 2005 Jun;1740(3):375-81	Interaction between insulin (VNTR) and hepatic lipase (LIPC-514C>T) variants on the response to an oral glucose tolerance test in the EARSII group of young healthy men.		107720	18040	2	2005				INS	VNTR	LIPC	514C>T			Y		Responses to glucose tolerance
138434		fibrinogen; triglyceride	METABOLIC	MET	Arterial Occlusive Diseases|Peripheral Vascular Diseases|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Jamshidi, Y.  et al. 2002	12048138				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2002 Jul;163(1):183-92	Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial.		107720	19026	2	2002	Thus while these genotypes are a minor determinant of baseline triglyceride and fibrinogen levels, there is little evidence from this study that the magnitude of response to bezafibrate treatment in men with peripheral vascular disease is determined by variation at these loci.	Cohort 158 diabetics Cohort 654 non-diabetics 	bezafibrate smoking (tobacco)									
138435		triglycerides; insulin; lipoproteins; apoB; apoC-III	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Garenc, C.  et al. 2004	15549499				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Canadian	Quebec	CDC GDPinfo	345	Hs.73849			Journal of human genetics. 2004 ;49(12):691-700	Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians.		107720	19032	2	2004	The co-transmitted allele distribution between the two-marker genotypes APOE/APOC3(C3238G) and APOC3(C-482T)/PPARalpha(L162V) presented a weak deviation from the assumption of genetic independence. Also, we observed a non-independent distribution of the T-482/G3238 allele combinations within the APOC3 gene, suggesting strong linkage disequilibrium between the C-482T and C3238G polymorphisms. Moreover, comparisons of allele frequencies observed in the population of Quebec City to those obtained in other Caucasian populations suggested that the population of Quebec City may be at a lower risk of developing HTG due to APOE, APOC3 and PPARalpha genetic variants. However, the strong linkage disequilibrium and the two-marker genotype distributions observed in the APOC3 gene suggest that these two variants may functionally interact in the Quebec City population.	Cohort 938 anonymous unlinked newborns Quebec City 										
138436		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Tobin, M. D.  et al. 2004	15039125				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			European heart journal. 2004 Mar;25(6):459-67	Genotypes and haplotypes predisposing to myocardial infarction: a multilocus case-control study		107720	20466	2	2004	 We report associations of two polymorphisms and haplotypes at two loci with risk of MI that warrants testing in future studies. Furthermore, we demonstrate the application of a multilocus assay in the setting of a large association study and the additional benefit gained from the study of haplotypes to identify variants influencing risk of coronary heart disease.	Control:505:controls;Case:547 acute myocardial infarct cases										
138437		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Pollex, R. L.  et al. 2005	16276364				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Canadian		CDC GDPinfo	345	Hs.73849			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		107720	20467	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
138438	N	cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipids	METABOLIC	MET	Hyperlipidemias	11	11q23.1-q23.2	APOC3	116205833	116208997		Buzza, M.  et al. 2001	11572515				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Italian, Greek and Anglo-Irish populations of Australia.	Australia|Greece|Ireland|Italy	CDC GDPinfo	345	Hs.73849			Annals of human biology. 2001 Sep-Oct;28(5):481-90	Apolipoprotein AI and CIII gene polymorphisms and their association with lipid levels in Italian, Greek and Anglo-Irish populations of Australia.		107720	20468	2	2001	 Because only two statistically significant associations were detected among a number of comparisons, our data suggest that the apo AI and CIII polymorphisms play only a very limited role in mediating variation in lipid concentrations in these three ethnic groups.	Cohort normal, healthy, adults from three ethnic groups of Australia--Italian, Greek and Anglo-Irish 										
138439		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Izar, M. C.  et al. 2003	12754559				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Arquivos brasileiros de cardiologia. 2003 Apr;80(4):379-95	Risk Factors, biochemical markers, and genetic polymorphisms in early coronary artery disease.		107720	20469	2	2003	 Of the classical risk factors, hypertension and diabetes mellitus were independently associated with early CAD. In addition to an unfavorable lipid profile, an increase in the thrombotic risk was identified in this population. An additive effect of the APO AI-CIII genes was observed in triglyceride levels.	Case:112 coronary artery disease patients;Control:112 controls matched by sex and age										
138440		hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23.1-q23.2	APOC3	116205833	116208997		Groenendijk, M.  et al. 2001	11181747				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2001 Feb;42(2):188-94	New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia		107720	20470	2	2001	While these effects can be attributed to the presence of the M2 and S2 minor alleles, these results suggest that the importance of specific allelic haplotypes may be greater than single genotypic effects.	Case:159 hyperlipidemic relatives;Control:218:spouses;Control:327 normolipidemic relatives										
138441		hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23.1-q23.2	APOC3	116205833	116208997		Groenendijk, M.  et al. 2001	11737222				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			European journal of clinical investigation. 2001 Oct;31(10):852-9	Two newly identified SNPs in the APO AI-CIII intergenic region are strongly associated with familial combined hyperlipidaemia.		107720	20471	2	2001	 These newly identified additional intergenic SNPs therefore provide an alternative explanation for the observed association of the SstI and MspI polymorphisms to the increased susceptibility for FCHL.	Case:159 hyperlipidemic relatives;Case:30 familial combined hyperlipidemia patients;Control:545 normolipidemic relatives (327) and spouses (218) from the same families in which the original results were obtained										
138442		myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Relvas, W. G.  et al. 2005	15585206				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2005 Jan;178(1):101-5	Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects.		107720	20472	2	2005	Therefore, among these genetic polymorphisms, TaqIB of CETP and MspI of apolipoprotein AI appeared to help significantly to identify diabetic individuals. In particular, the former may have an additional role in the primary prevention of coronary disease.	Control:100 non-diabetic middle aged individuals;Case:119 diabetic middle aged individuals										
138443		hypoalphalipoproteinemia	METABOLIC	MET	Hypolipoproteinemias|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Recalde, D.  et al. 2002	12048121				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2002 Jul;163(1):49-58	Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase andglucocerebrosidase genes in hypoalphalipoproteinemia.		107720	20473	2	2002	Our results confirm the molecular, genetic and phenotypic heterogeneity of HALP.	Cohort 66 unrelated subjects with recurrent low HDL-C 										
138444		cholesterol; lipids	METABOLIC	MET	Coronary Disease	11	11q23.1-q23.2	APOC3	116205833	116208997			16326171				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2006 Jan;184(1):113-20	Associations between plasma lipid parameters and APOC3 and APOA4 genotypes in a healthy population are independent of dietary cholesterol intake		107720	20474	2	2006			cholesterol									
138445		triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Ribalta, J.  et al. 2005	15764642				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Clinical chemistry. 2005 May;51(5):864-71	Additive effects of the PPARgamma, APOE, and FABP-2 genes in increasing daylong triglycerides of normolipidemic women to concentrations comparable to those in men.		107720	20475	2	2005	 An adverse combination of common alleles of the FABP-2, APOE, and PPARgamma genes in women increases their TG concentrations to values comparable to those seen in men. Although this influence is not appreciable when studying fasting plasma TGs, it becomes apparent with use of a more sensitive index such as measurements made throughout the day.	Cohort 40/48 women (n=40) and men (n=48) 										
138446		cholesterol, HDL; triglycerides; lipids; lipoproteins	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Li, G. P.  et al. 2004	15151505				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Clinical genetics. 2004 Jun;65(6):470-6	Genetic effect of two polymorphisms in the apolipoprotein A5 gene and apolipoprotein C3 gene on serum lipids and lipoproteins levels in a Chinese population.		107720	20476	2	2004	Our results strongly support that the two single nucleotide polymorphisms, -1131T>C in APOA5 and -482C>T in APOC3, are related to the levels of serum TG and HDL-C and those of other several lipids and lipoproteins in the Chinese population.	Cohort a healthy Chinese group 										
138447		triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Artery Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Bi, N.  et al. 2004	15542401				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Molecular genetics and metabolism. 2004 Nov;83(3):280-6	A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene is associated with an increased risk of coronary artery disease and alters triglyceride metabolism in Chinese.		107720	20477	2	2004	These data suggest that the APOA5-1131T>C polymorphism might contribute to an increased risk of CAD among Chinese as a result of its effect on TG metabolism; this effect was found to be independent of the APOC3-482C>T variant.	Control:controls;Case:312 Chinese coronary artery disease patients										
138448	N	triglycerides; atherosclerosis, coronary	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Bi, N.  et al. 2005	15924804				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Feb;33(2):116-21	[Polymorphsims in the apolipoprotein A5 gene and apolipoprotein C3 gene in patients with coronary artery disease]		107720	20478	2	2005	 The APOA5-1131T/C polymorphism but not APOC3-482C/T might contribute to an increased risk of CAD among Chinese accompanied by an elevation of serum TG levels; this effect was found to be independent of the APOC3-482C/T variant.	Case:213 Chinese Han coronary artery disease patients;Control:317 healthy controls										
138449		myocardial infarct; triglycerides	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Ruiz-Narvaez, E. A.  et al. 2005	16192625				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Costa Rica	CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2005 Dec;46(12):2605-13	APOC3/A5 haplotypes, lipid levels, and risk of myocardial infarction in the Central Valley of Costa Rica.		107720	20479	2	2005												
138451		triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Souverein, O. W.  et al. 2005	15657615				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		107720	24050	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
138452		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	11	11q23.1-q23.2	APOC3	116205833	116208997		van Aalst-Cohen, E. S.  et al. 2005	16030523				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		107720	24051	2	2005			alcohol beta blockers body mass smoking (tobacco)									
138453	N	kidney transplant complications	IMMUNE	IMM		11	11q23.1-q23.2	APOC3	116205833	116208997		Cofan, M.  et al. 2003	12962772				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Transplantation proceedings. 2003 Aug;35(5):1725-6	Effect of apolipoprotein polymorphisms in renal transplant recipients.		107720	24052	2	2003	In conclusion, there was no significant influence of apolipoprotein polymorphisms on renal and patient survival.	Cohort 516 kidney transplant patients 										
138454		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q23.1-q23.2	APOC3	116205833	116208997		Liu, S.  et al. 2004	15488874				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2004 Nov;177(1):119-26	A prospective study of the APOA1 XmnI and APOC3 SstI polymorphisms in the APOA1/C3/A4 gene cluster and risk of incident myocardial infarction in men.		107720	24053	2	2004	 In this prospective study of apparently healthy middle-aged US men, carriers of the X1-S2 haplotype in the APOA1 XmnI and APOC3 SstI variants across the APOA1/C3/A4 gene cluster had higher TG levels, but there was no evidence for significant associations between these two common variants or haplotypes defined by them and risk of incident MI in this cohort.	Control:373 age- and smoking-matched controls from the Physicians' Health Study;Case:385 incident cases of myocardial infarct from the Physicians' Health Study										
138455		hyperuricemia	METABOLIC	MET	Hyperuricemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Cardona, F.  et al. 2005	15868628				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			The Journal of rheumatology. 2005 May;32(5):903-5	Response to a Urate-Lowering Diet According to Polymorphisms in the Apolipoprotein AI-CIII-AIV Cluster		107720	24054	2	2005	 The response of the biological variables to a urate-lowering diet was mainly influenced by diet. Changes in triglycerides were also influenced by the apolipoprotein AI XmnI polymorphism (p = 0.04), suggesting a gene-diet interaction (p = 0.03).	Cohort 64 men with hyperuricemia 	diet									
138456		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Morcillo, S.  et al. 2005	15910632				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Spain	CDC GDPinfo	345	Hs.73849			Diabetic medicine. 2005 Jun;22(6):782-8	Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus.		107720	24055	2	2005	 Pending confirmation in prospective studies, the AA genotype of the MspI polymorphism of the Apo AI gene, within the Apo A-I/C-III/A-IV cluster, seems to be a risk factor for Type 2 diabetes mellitus.	Cohort 1,224 persons selected randomly from the town of Pizarra in the province of Malaga southern Spain 										
138457		cholesterol, HDL; triglycerides; cholesterol, LDL; cholesterol, total; glucose; stroke; carotid artery intima-media thickness	METABOLIC	MET	Coronary Disease|Hyperlipidemia, Familial Combined|Obesity	11	11q23.1-q23.2	APOC3	116205833	116208997		Voors-Pette, C.  et al. 2001	11472750				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2001 Aug;157(2):481-9	Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity		107720	24056	2	2001	 Men with FCHL have a severely increased risk of CAD, that appears to be mediated through genetic relation to the proband as the strongest independent risk factor for CAD, followed by increased WHR.											
138458		longevity	AGING	AGE		11	11q23.1-q23.2	APOC3	116205833	116208997		Garasto, S.  et al. 2003	12556235				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Annals of human genetics. 2003 Jan;67(Pt 1):54-62	The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects.		107720	24057	2	2003	A significant age-related variation of the APOA1 gene pool was observed in males. An analysis of the allele average effect exerted by APOA1-MspI-RFLP A/P alleles (Absence/Presence of the restriction site) on lipidemic parameters in 46-80 year old males showed that allele A decreased, while allele P significantly increased, serum LDL-cholesterol. Unexpectedly, the P allele was over-represented in the group of the oldest old subjects, thus giving evidence of another "genetic paradox of centenarians".	Cohort 800 subjects in a healthy ageing population whose ages ranged from 18-109 years 										
138459		cholesterol; cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Franca, E.  et al. 2005	15962178				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Brazilian journal of medical and biological research. 2005 Apr;38(4):535-41	APOA1/C3/A4 gene cluster variability and lipid levels in Brazilian children.		107720	24058	2	2005												
138461		triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Talmud, P. J.  et al. 2002	12417525				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Human molecular genetics. 2002 Nov;11(24):3039-46	Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.		107720	24060	2	2002	Thus variation in APOA5 is associated with differences in TGs in healthy men, independent of those previously reported for APOC3, while association between APOA4 and TG reflects linkage disequilibrium with these sites. The molecular mechanisms for these effects remain to be determined.	Cohort 2808 healthy middle-aged men 										
138462		atherosclerosis, coronary; lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Wong, W. M.  et al. 2003	12676816				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Great Britain	CDC GDPinfo	345	Hs.73849			Circulation research. 2003 May;92(9):969-75	Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels.		107720	24061	2	2003	These results demonstrate that genetic variation in and around APOA4, independent of the effects of triglyceride, is associated with risk of CHD and apoAIV levels, supporting an antiatherogenic role for apoAIV.	Cohort 2,808 healthy UK men followed for over 9 years 										
138463		Alzheimer's disease; triglycerides; atherosclerosis, coronary	NEUROLOGICAL	NEUR		11	11q23.1-q23.2	APOC3	116205833	116208997		Demarchi, D. A.  et al. 2005	16136540				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			American journal of human biology. 2005 Sep-Oct;17(5):593-600	Apolipoproteins (apoproteins) and LPL variation in Mennonite populations of Kansas and Nebraska.		107720	24062	2	2005												
138464		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Masana, L.  et al. 2001	11171287				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Spanish	Spain	CDC GDPinfo	345	Hs.73849			Clin Sci (Lond).. 2001 Feb;100(2):183-90	Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease.		107720	24063	2	2001	Only the three-codon insertion/deletion variants of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P=0.02). The possible functional effects of these common mutations are discussed.	Control:112 men clinically free from coronary artery disease;Case:98 northern Spanish men with proven coronary artery:disease										
138465		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Baroni, M. G.  et al. 2003	12964943				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Italian	Italy	CDC GDPinfo	345	Hs.73849			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		107720	24064	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
138466		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Vincent, S.  et al. 2002	12691171				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		107720	24065	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
138467		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Watanabe, I.  et al. 2003	12732844				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Japanese	Japan	CDC GDPinfo	345	Hs.73849			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		107720	25842	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
138468		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Han, Z.  et al. 2002	12116231				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Micronesia	CDC GDPinfo	345	Hs.73849			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		107720	25843	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
138469	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		11	11q23.1-q23.2	APOC3	116205833	116208997		Sass, C.  et al. 2004	15076187				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		107720	25844	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
138470		lipid metabolism	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Pallaud, C.  et al. 2001	11714857				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		107720	25845	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
138471		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Pallaud, C.  et al. 2001	11359462				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		107720	25846	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
138472		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Pallaud, C.  et al. 2001	11575217				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	French		CDC GDPinfo	345	Hs.73849			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		107720	25847	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
138473		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Islam, M. S.  et al. 2005	15823278				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Finnish	Finland	CDC GDPinfo	345	Hs.73849			Atherosclerosis. 2005 May;180(1):79-86	Apolipoprotein A-I/C-III/A-IV SstI and apolipoprotein B XbaI polymorphisms and their association with carotid artery intima-media thickness in the Finnish population. The Cardiovascular Risk in Young Finns Study.		107720	25848	2	2005	No significant association between apoB XbaI polymorphism and carotid IMT was found. However, serum total and LDL cholesterol and apoB concentrations were significantly different among apoB genotype groups (p<0.001 for all traits). The apoA-I/C-III/A-IV SstI polymorphism is associated with carotid IMT in young Finns.	Cohort 214 individuals as a random sub-sample from the 'Cardiovascular Risk in Young Finns' study Finland 										
138474		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Pallaud, C.  et al. 2001	11341749				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		France|Italy	CDC GDPinfo	345	Hs.73849			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		107720	26790	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
138476		schizophrenia	PSYCH	PSY	Schizophrenia	18	18q11.2-q12.1	AQP4	22686004	22699714		Muratake, T.  et al. 2005	16194264				Aquaporin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001650.4			CDC GDPinfo	361	Hs.315369			Psychiatry and clinical neurosciences. 2005 Oct;59(5):595-8	Linkage disequilibrium in aquaporin 4 gene and association study with schizophrenia.		600308	15320	2	2005												
138477	Y	plasma lipoproteins	METABOLIC	MET	Pseudoxanthoma Elasticum|Hyperlipoproteinemia Type IV	16	16p13.1	ABCC6	16150922	16224838		Wang J et al. 2001	11776382				ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2			KGB	368	Hs.442182			Journal of human genetics. 2001 ;46(12):699-705	ABCC6 gene polymorphism associated with variation in plasma lipoproteins.		603234	904	1	2001												
138478		pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum	16	16p13.1	ABCC6	16150922	16224838		Gotting C 2004	14631379	3421C>T			ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2	German		KGB	368	Hs.442182			Laboratory investigation; a journal of technical methods and pathology. 2004 Jan;84(1):122-30	Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.		603234	905	1	2004	Our new c.3421C>T genotyping assays can be used for the rapid identification of this frequent mutation in PXE patients and of the recently newly proposed cardiac risk factor in young patients with myocardial infarcts of unknown origin.	Cohort 64 pseudoxanthoma elasticum patients										
138479	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Pseudoxanthoma Elasticum	16	16p13.1	ABCC6	16150922	16224838		Trip, M. D.  et al. 2002	12176944				ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2		Netherlands	CDC GDPinfo	368	Hs.442182			Circulation. 2002 Aug;106(7):773-5	Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease.		603234	14923	2	2002	 The presence of the R1141X mutation in the ABCC6 gene is associated with a sharply increased risk of premature CAD.	Control:1057 age- and sex-matched population-based controls who were free of coronary disease;Case:441 patients under the age of 50 years who had definite:CAD										
138481		pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum	16	16p13.1	ABCC6	16150922	16224838		Hu, X.  et al. 2004	15727254				ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2			CDC GDPinfo	368	Hs.442182			Genetic testing. 2004 ;8(3):292-300	Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.		603234	14925	2	2004	We conclude that  this strategy leads to both reliable and time-saving screening for mutations in the ABCC6 gene in sporadic cases and in families with PXE.	Cohort 76 pseudoxanthoma elasticum patients 										
138482		asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q24.1-q24.3	ARG2	67156331	67188189			16387594				Vesicle transport through interaction with t-SNAREs homolog 1B (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001172.3			CDC GDPinfo	384	Hs.632330			The Journal of allergy and clinical immunology. 2006 Jan;117(1):119-26	Genetic polymorphisms in arginase I and II and childhood asthma and atopy		107830	20545	2	2006	 Variation in arginase genes may contribute to asthma and atopy in children.		smoke (tobacco), passive									
138483	N	maculopathy	VISION	VIS	Macular Degeneration	1	1q25-q31	HMCN1	183970305	184426708		Hayashi, M.  et al. 2004	15370542				Hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935.1			CDC GDPinfo	83872	Hs.58877			Ophthalmic genetics. 2004 Jun;25(2):111-9	Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: geneticvariation in laminin genes and in exon 104 of HEMICENTIN-1.		608548	17973	2	2004	Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM. However, as in many instances in similar studies, involvement of rare amino acid-changing variants in a fraction of ARM cannot be ruled out.	Control matched unaffected controls;Case:368 age-related maculopathy patients										
138485	Y	diffuse large B-cell lymphoma	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, Large-cell, Diffuse	11	11q22-q23	ATM	107598768	107745036		Gronbaek K et al. 2002	12149228				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Blood. 2002 Aug;100(4):1430-7	ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.		607585	7407	1	2002												
138486	N	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036	n	Spurdle AB et al. 2002	12473176				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Breast cancer research. 2002 ;4(6):R15	No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.		607585	7408	1	2002	 The 2119C and 3161G amino acid substitution variants are not associated with moderate or high risks of breast cancer in Australian women.	Control:600:controls;Case more than 1300 cases of breast cancer:Australia										
138487		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Second Primary|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Bernstein JL 2003	14562025				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			British journal of cancer. 2003 Oct;89(8):1513-6	ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.		607585	7409	1	2003	Given the likelihood that young women with bilateral breast cancer have a genetic predisposition, the observed mutation distribution is contrary to that expected if these two mutations were to play an important role in breast carcinogenesis among individuals at high risk.	Case:511 young women with bilateral breast cancer (of a population-based series);Case:638 similar women diagnosed with unilateral breast:cancer										
138488		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Bretsky P 2003	12917204				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Japan	KGB	472	Hs.435561			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):733-8	The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort.		607585	7410	1	2003	The distribution of ATM missense mutations and polymorphisms varied widely across the four ethnic groups studied. Although a single missense variant (L546V) appeared to act as a modest predictor of risk, the remaining variants were no more common in breast cancer cases as compared with controls.	Control:426:controls;Case:428 incident breast cancer cases (African-American, Latina, Japanese, and Caucasian women aged >45 years participating in the Multiethnic Cohort:Study)										
138489		mutations in the ATM gene	OTHER	OTH	Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Mitui M 2003	12815592				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Costa Rica|United States|Brazil|Portugal|Spain	KGB	472	Hs.435561			Human mutation. 2003 Jul;22(1):43-50	Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.		607585	7411	1	2003												
138491		Hodgkin disease	OTHER	OTH	Hodgkin Disease	11	11q22-q23	ATM	107598768	107745036		Takagi M 2004	12969974				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Blood. 2004 Jan;103(1):283-90	Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease.		607585	7413	1	2004	We conclude that  the rare polymorphic variants of the ATM gene that we identified in children with HD encode functionally abnormal proteins, and we discuss the possible genetic risk factors for childhood HD.											
138492		gastric cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage	11	11q22-q23	ATM	107598768	107745036		Zhang L 2004	14706517				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Mutation research. 2004 Jan;557(1):41-51	Alteration of the ATM gene occurs in gastric cancer cell lines and primary tumors associated with cellular response to DNA damage.		607585	7414	1	2004												
138493		leukemia	OTHER	OTH	Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Liberzon E 2004	14695997				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Genes, chromosomes & cancer. 2004 Feb;39(2):161-6	Germ-line ATM gene alterations are associated with susceptibility to sporadic T-cell acute lymphoblastic leukemia in children.		607585	7415	1	2004												
138496	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q22-q23	ATM	107598768	107745036		Angele, S.  et al. 2004	15280931				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			British journal of cancer. 2004 Aug;91(4):783-7	ATM polymorphisms as risk factors for prostate cancer development		607585	8842	2	2004	These results provide evidence that the presence of common variants in the ATM gene, may confer an altered cellular phenotype, and that the ATM 3161C>G variant might be associated with prostate cancer risk.	Control:445 control with no family history of cancer;Case:637 prostate cancer cases										
138497		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Lee, K. M.  et al. 2005	15824150				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3	Korean	Korea	CDC GDPinfo	472	Hs.435561			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):821-5	Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk.		607585	8843	2	2005	Our results thus suggest that genetic polymorphisms of ATM play an important role in the development of breast cancer in Korean women.	Control:1,181 cancer free controls;Case:996 incident breast cancer cases:Seoul:1995 - 2003										
138498		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	11	11q22-q23	ATM	107598768	107745036		Jones, J. S.  et al. 2005	16049814				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		United States	CDC GDPinfo	472	Hs.435561			Cancer causes & control. 2005 Aug;16(6):749-53	ATM polymorphism and hereditary nonpolyposis colorectal cancer (HNPCC) age of onset (United States).		607585	8844	2	2005	 Although a modifier effect was not seen in our study, future studies that examine the polymorphism in combination with other genetic and environmental factors may elucidate an association. Revealing such associations in MMR mutation carriers may improve risk estimates and help to identify individuals who are genetically susceptible to developing HNPCC at an earlier age.											
138499	Y	breast cancer	CANCER	CAN	Adenocarcinoma|Breast Neoplasms|Carcinoma, Ductal, Breast|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Dork, T.  et al. 2001	11606401				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Cancer research. 2001 Oct;61(20):7608-15	Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.		607585	15344	2	2001	We conclude that  a large variety of distinct ATM mutations and variants exist among breast cancer patients, some of which can contribute to the etiology and progression of the malignancy. Screening for frequent A-T mutations such as the 1066-6-->G splice site substitution can be effective to prospectively identify A-T heterozygotes in an unselected cancer patient population.	Case:1000 breast cancer patients:Germany;Control:500 random individuals										
138500	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Radiodermatitis	11	11q22-q23	ATM	107598768	107745036		Iannuzzi, C. M.  et al. 2002	11849780				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			International journal of radiation oncology, biology, physics. 2002 Mar;52(3):606-13	ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects.		607585	15345	2	2002	 Possession of an ATM mutation, particularly when 2 are present, may be predictive of an increase in subcutaneous late tissue effects after RT for breast cancer and may subsequently prove to be a relative contraindication to standard management. These patients may be better served with reduced doses of radiation. Equivalent local control remains to be tested, but this germline alteration may radiosensitize normal tissues, as well as the tumor itself. DHPLC is effective in the identification of these patients. A larger study is required to confirm these findings.	Cohort 46 patients with early-stage breast carcinoma 										
138502	N	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Spurdle, A. B.  et al. 2002	12473176				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3	Australian		CDC GDPinfo	472	Hs.435561			Breast cancer research. 2002 ;4(6):R15	No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.		607585	15347	2	2002	 The 2119C and 3161G amino acid substitution variants are not associated with moderate or high risks of breast cancer in Australian women.	Control:600:controls;Case more than 1300 cases of breast cancer:Australia										
138503	N	breast cancer; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Breast Neoplasms|Neoplasms, Radiation-Induced	11	11q22-q23	ATM	107598768	107745036		Offit, K.  et al. 2002	12473594				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Clinical cancer research. 2002 Dec;8(12):3813-9	Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers.		607585	15348	2	2002	 Heterozygous protein-truncating or missense mutations of ATM were not associated with increased radiation-associated risk of BC after HD. The observation of multiple germ-line mutations and a homozygote suggests that rare ATM variants may constitute cancer-susceptibility alleles in a subset of cases.	Control:27 comparison cases with Hodgkin's disease and no breast cancer;Case:37 breast cancer cases after therapeutic radiation therapy for Hodgkin's disease										
138504		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Bretsky, P.  et al. 2003	12917204				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Japan	CDC GDPinfo	472	Hs.435561			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):733-8	The Relationship between Twenty Missense ATM Variants and Breast Cancer Risk: The MultiethnicCohort		607585	15349	2	2003	The distribution of ATM missense mutations and polymorphisms varied widely across the four ethnic groups studied. Although a single missense variant (L546V) appeared to act as a modest predictor of risk, the remaining variants were no more common in breast cancer cases as compared with controls.	Control:426:controls;Case:428 incident breast cancer cases (African-American, Latina, Japanese, and Caucasian women aged >45 years participating in the Multiethnic Cohort:Study)										
138505		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Sommer, S. S.  et al. 2003	12935922				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Cancer genetics and cytogenetics. 2003 Sep;145(2):115-20	ATM missense mutations are frequent inpatients with breast cancer		607585	15350	2	2003	It is estimated that the attributable risk of mutations in the ATM gene is 13% in this cohort of women with breast cancer.	Case:90 women with breast cancer;Control:90 ethnically similar control individuals										
138506		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Second Primary|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Bernstein, J. L.  et al. 2003	14562025	7271T>G and IVS10-6T>G			Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			British journal of cancer. 2003 Oct;89(8):1513-6	ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer.		607585	15351	2	2003	Given the likelihood that young women with bilateral breast cancer have a genetic predisposition, the observed mutation distribution is contrary to that expected if these two mutations were to play an important role in breast carcinogenesis among individuals at high risk.	Case:511 young women with bilateral breast cancer (of a population-based series);Case:638 similar women diagnosed with unilateral breast:cancer										
138507		radiosensitivity	OTHER	OTH	Breast Neoplasms|Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Bremer, M.  et al. 2003	14643952				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Radiotherapy and oncology. 2003 Nov;69(2):155-60	Clinical radiosensitivity in breast cancer patients carrying pathogenic ATM gene mutations: noobservation of increased radiation-induced acute or late effects.		607585	15352	2	2003	 Our results do not provide evidence for a relative contraindication to adjuvant RT in A-T heterozygous breast cancer patients. Due to their increased cellular radiosensitivity, these patients may differentially benefit from RT and qualify for dose and volume reduction trials.	Cohort 1,100 unselected breast cancer patients receiving adjuvant radiotherapy 										
138508	Y	Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Liberzon, E.  et al. 2004	14735203				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			British journal of cancer. 2004 Jan;90(2):522-5	Molecular variants of the ATM gene in Hodgkin's disease in children		607585	15353	2	2004	Missense variants of the ATM gene are a rare event in childhood Hodgkin disease.	Control:100 matched normal ethnic controls;Case:23 patients with Hodgkin's disease										
138509		breast cancer	CANCER	CAN	Breast Neoplasms|Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Buchholz, T. A.  et al. 2004	15042666	Ser49Cys			Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Cancer. 2004 Apr;100(7):1345-51	A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls		607585	15354	2	2004	 Patients with breast carcinoma, particularly those with bilateral disease, were more likely to have a variant in the ATM gene that resulted in a Ser49Cys substitution in the gene product. Additional studies are needed to evaluate the potential functional consequences of the Ser49Cys substitution and confirm the relevance of this variant in the development of breast carcinoma.	Case:91 patients with breast carcinoma;Control:940 control individuals with no history of malignant:disease										
138510		ataxia telangiectasia	NEUROLOGICAL	NEUR	Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Fares, F.  et al. 2004	15164409				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Israel	CDC GDPinfo	472	Hs.435561			Prenatal diagnosis. 2004 May;24(5):358-62	Identification of two mutations for ataxia telangiectasia among the Druze community.		607585	15355	2	2004	The ability to identify AT carriers routinely provides a unique opportunity for prenatal diagnosis, genetic counseling as well as marriage guidance in the Druze community.	Cohort individuals from four Israeli Druze clans originating from three different Druze centers in the Middle East Middle East (Lebanon, Syria and Jordan 										
138511	N	breast cancer	CANCER	CAN	Breast Neoplasms|Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Tamimi, R. M.  et al. 2004	15217510				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Breast cancer research. 2004 ;6(4):R416-22	Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study.		607585	15356	2	2004	 There was no evidence that common haplotypes of ATM are associated with breast cancer risk. Extensive single nucleotide polymorphism detection using the entire genomic sequence of ATM will be necessary to rule out less common variation in ATM and sporadic breast cancer risk.	Case:1,309 breast cancer cases;Control:1,761:controls										
138512	N	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Meyer, A.  et al. 2004	15450731				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Radiotherapy and oncology. 2004 Sep;72(3):319-23	Breast cancer in female carriers of ATM gene alterations: outcome of adjuvant radiotherapy		607585	15357	2	2004	 Our results do not support the hypothesis that breast cancer patients carrying a sequence variant in the ATM gene differentially benefit from postoperative radiotherapy. These findings have to be verified using larger number of cases to clarify the clinical consequences of sequence variants in the ATM gene.	Cohort 138 breast cancer patients who received adjuvant radiotherapy following breast conservative surgery for T1 and T2 tumors 	radiation									
138513	Y	radiotherapy response	OTHER	OTH	Prostatic Neoplasms	11	11q22-q23	ATM	107598768	107745036		Cesaretti, J. A.  et al. 2005	15629612				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			International journal of radiation oncology, biology, physics. 2005 Jan;61(1):196-202	ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer.		607585	15358	2	2005	 Possession of sequence variants in the ATM gene, particularly those that encode for an amino acid substitution, is predictive for the development of adverse radiotherapy responses among patients treated with (125)I prostate brachytherapy.	Cohort 37 patients with a minimum of 1-year follow-up who underwent (125)I prostate brachytherapy of early-stage prostate cancer 										
138514		leukemia	CANCER	CAN	Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Meier, M.  et al. 2005	16167060				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Leukemia. 2005 Nov;19(11):1887-95	Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia.		607585	15359	2	2005												
138515		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Radiation-Induced|Neoplasms, Second Primary|Cocarcinogenesis|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Bernstein, J. L.  et al. 2004	15084244				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Breast cancer research. 2004 ;6(3):R199-214	Study design: Evaluating gene-environmentinteractions in the etiology of breast cancer - the WECARE study		607585	15493	2	2004	 Our study design improves the potential for detecting gene-environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case-control sets and enhanced our ability to detect radiation-genotype interactions.	Control:1400 individually matched controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy;Case:700 women with asynchronous bilateral breast cancer										
138517		leukemia	CANCER	CAN	Leukemia, B-cell, Chronic	11	11q22-q23	ATM	107598768	107745036		Austen, B.  et al. 2005	16014569				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Blood. 2005 Nov;106(9):3175-82	Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.		607585	19963	2	2005												
138518	N	radiotherapy	OTHER	OTH	Breast Neoplasms|Radiation Injuries	11	11q22-q23	ATM	107598768	107745036		Andreassen, C. N.  et al. 2005	15878096				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Radiotherapy and oncology. 2005 Apr;75(1):18-21	TGFB1 polymorphisms are associated with risk of late normal tissue complications in the breast after radiotherapy for early breast cancer		607585	20548	2	2005	Statistically significant associations were found between the TGFB1 codon 10 Pro allele (P=0.005) as well as the TGFB1 position -509 T allele (P=0.018) and increased risk of altered breast appearance. No significant associations were found for the remaining SNPs.	Control:26 matched controls;Case:26 breast cancer patients with marked changes in breast appearance after radiotherapy										
138519		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Goode, E. L.  et al. 2002	12036913				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		607585	20549	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
138520		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p21	ATP1A1	116717358	116748919		Glorioso, N.  et al. 2001	11509477				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6			CDC GDPinfo	476	Hs.371889			Hypertension. 2001 Aug;38(2):204-9	Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension		182310	15360	2	2001	The data are compelling that ATP1A1 and NKCC2 genes are candidate interacting hypertension-susceptibility loci in human essential hypertension and affirm gene interaction as an important genetic mechanism underlying hypertension susceptibility. Although corroboration in other cohorts and identification of functionally significant mutations are imperative next steps, the data provide a genotype-stratification scheme, with 4-fold predictive value (odds ratio, 4.28; 95% confidence interval, 2.29 to 8.0), which could help decipher the complex genetics of essential hypertension.	Case hypertensive patients (blood pressure >165/95 mm:Hg);Control normotensive controls age >60 years with BP<140/85mm Hg.										
138521	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p21	ATP1A1	116717358	116748919		Song, Y.  et al. 2001	11564973				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6			CDC GDPinfo	476	Hs.371889			Journal of hypertension. 2001 Sep;19(9):1547-51	Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans.		182310	15361	2	2001	These data exclude a primary role of the TSC gene in hypertension pathogenesis in the hypertension cohorts studied.	Control:220 unrelated normotensives northern Sardinia;Case:254 unrelated hypertensives northern Sardinia										
138522	Y	Na/K ATPase activity	OTHER	OTH	Diabetes Mellitus|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1p21	ATP1A1	116717358	116748919		Jannot, M. F.  et al. 2002	11887161				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6		Africa, Northern|Europe	CDC GDPinfo	476	Hs.371889			Metabolism:  clinical and experimental. 2002 Mar;51(3):284-91	Genetic and environmental regulation of Na/K adenosine triphosphatase activity in diabetic patients.		182310	15362	2	2002	Correlation observed between C-peptide levels and RBC's Na/K ATPase suggests that the deleterious effect of C peptide deficiency on Na/K ATPase activity is worse in the presence of the restriction site. This may explain the high relative risk of developing the neuropathy observed in type 1 diabetic patients bearing the variant allele.	Cohort diabetic European and North African subjects Cohort healthy European and North African subjects 	C-peptide									
138523	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872	0.019	Momose Y 2001	11782995			other	Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese		KEW	627	Hs.502182			Annals of neurology. 2002 Jan;51(1):133-6	Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms.		113505	7528	1	2001	Our results provide genetic evidence supporting a role for BDNF in the pathogenesis of Parkinson's disease.	Case patients with Parkinson's disease;Control unaffected controls										
138524	Y	Schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Krebs MO 2000	11032392			other	Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	French Caucasian		KEW	627	Hs.502182			Molecular psychiatry. 2000 Sep;5(5):558-62			113505	7529	1	2000												
138525	Y	Bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872	0.000394	Neves-Pereira M 2002	12161822	3-G haplotype		unknown	Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KEW	627	Hs.502182			American journal of human genetics. 2002 Sep;71(3):651-5			113505	7530	1	2002		Case:283										
138526		bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Sklar P et al. 2002	12140781				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			Molecular psychiatry. 2002 ;7(6):579-93	Family-based association study of 76 candidate genes in bipolar disorder: BDNF is a potential risk locus. Brain-derived neutrophic factor.		113505	7531	1	2002												
138527	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872	n	Nakata K et al. 2003	12524161				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			Neuroscience letters. 2003 Jan;337(1):17-20	Association study of the brain-derived neurotrophic factor (BDNF) gene with bipolar disorder.		113505	7532	1	2003	The results suggest that the BDNF gene is unlikely to confer susceptibility to BPD.	Case Japanese bipolar patients;Control:controls										
138528	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Partial	11	11p13	BDNF	27633017	27699872		Kanemoto K et al. 2003	12694935				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			Epilepsy research. 2003 Mar;53(3):255-8	Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms.		113505	7533	1	2003	Our results suggest that the 240T allele in the BDNF gene may be a genetic marker that indicates an enhanced susceptibility to seizures, setting up a cascade leading eventually to chronic partial epilepsy in patients with such a genetic predisposition.	Case:219 patients with partial epilepsy;Control:311 healthy control individuals										
138529	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Riemenschneider M et al. 2002	12192623				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Germany	KGB	627	Hs.502182			Molecular psychiatry. 2002 ;7(7):782-5	A polymorphism of the brain-derived neurotrophic factor (BDNF) is associated with Alzheimer's disease in patients lacking the Apolipoprotein E epsilon4 allele.		113505	7534	1	2002	The results suggest that the BDNF C-270T polymorphism is a relevant risk factor for AD particularly in patients lacking the ApoE epsilon4 allele in this German sample.	Cohort 188 cognitively healthy controls ;Case:210 patients with Alzheimer's disease										
138530	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Kunugi H et al. 2001	11244490				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			Molecular psychiatry. 2001 Jan;6(1):83-6	A novel polymorphism of the brain-derived neurotrophic factor (BDNF) gene associated with late-onset Alzheimer's disease.		113505	7535	1	2001	Our results suggest that the C270T polymorphism of the BDNF gene or other unknown polymorphisms, which are in linkage disequilibrium, give susceptibility to late-onset AD. We obtained no evidence for the possible interactions between the BDNF and apolipoprotein E (APOE) genes, suggesting that the possible effect of the BDNF gene on the development of late-onset AD might be independent of the APOE genotype.	Case:170 patients with sporadic AD (51 early-onset and 119:late-onset);Control:498:controls										
138532	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p13	BDNF	27633017	27699872		Masaki T 2003	12891687				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182	sporadic Parkinson's disease		Annals of neurology. 2003 Aug;54(2):276-7	Association between a polymorphism of brain-derived neurotrophic factor gene and sporadic Parkinson's disease.		113505	7537	1	2003												
138533		memory performance.	OTHER	OTH		11	11p13	BDNF	27633017	27699872		Hariri AR 2003	12890761				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			The Journal of neuroscience. 2003 Jul;23(17):6690-4	Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance.		113505	7538	1	2003	These data implicate a specific genetic mechanism for substantial normal variation in human declarative memory and suggest that the basic effects of BDNF signaling on hippocampal function in experimental animals are important in humans.	Cohort healthy individuals										
138535	Y	obsessive-compulsive disorder	OTHER	OTH	Obsessive-Compulsive Disorder	11	11p13	BDNF	27633017	27699872		Hall D 2003	12836135				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			American journal of human genetics. 2003 Aug;73(2):370-6	Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder.		113505	7540	1	2003												
138536		personality trait and intelligence	NORMALVARIATION	NV		11	11p13	BDNF	27633017	27699872		Tsai SJ 2004	14730195	Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	chinese		KGB	627	Hs.502182	specific cognitive functions, but not in overall intelligence		Neuropsychobiology. 2004 ;49(1):13-6	Association study of a brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and personality trait and intelligence in healthy young females.		113505	7541	1	2004	These results suggest that genetic variants of the BDNF gene may play a role in specific cognitive functions, but not in overall intelligence. In contrast to a recent report, however, this polymorphism does not appear to be associated with the neuroticism-related personality trait.	Cohort 114 healthy young Chinese females										
138537	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Tsai SJ 2004	14730194	Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Italian		KGB	627	Hs.502182			Neuropsychobiology. 2004 ;49(1):2-Oct	Association analysis of brain-derived neurotrophic factor Val66Met polymorphisms with Alzheimer's disease and age of onset.		113505	7542	1	2004	Our negative findings suggest that it is unlikely that the BDNF Val66Met polymorphism plays a major role in the pathogenesis of AD in the Chinese population and do not support previous findings that homozygosity for the 66Val allele confers an increased risk for AD. Further studies with genetic variations in BDNF relating either to AD-associated depression or to the AD treatment response are suggested.	Case Chinese Alzheimer's disease patients;Control:controls										
138538	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Momose, Y.  et al. 2002	11782995				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Annals of neurology. 2002 Jan;51(1):133-6	Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms.		113505	8887	2	2002	Our results provide genetic evidence supporting a role for BDNF in the pathogenesis of Parkinson's disease.	Case patients with Parkinson's disease;Control unaffected controls										
138539	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Partial	11	11p13	BDNF	27633017	27699872		Kanemoto, K.  et al. 2003	12694935				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Epilepsy research. 2003 Mar;53(3):255-8	Association of partial epilepsy with brain-derived neurotrophic factor (BDNF) gene polymorphisms.		113505	8889	2	2003	Our results suggest that the 240T allele in the BDNF gene may be a genetic marker that indicates an enhanced susceptibility to seizures, setting up a cascade leading eventually to chronic partial epilepsy in patients with such a genetic predisposition.	Case:219 patients with partial epilepsy;Control:311 healthy control individuals										
138540		memory impairment	OTHER	OTH		11	11p13	BDNF	27633017	27699872		Hariri, A. R.  et al. 2003	12890761	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			The Journal of neuroscience. 2003 Jul;23(17):6690-4	Brain-derived neurotrophic factor val66met polymorphism affects human memory-related hippocampal activity and predicts memory performance.		113505	8890	2	2003	These data implicate a specific genetic mechanism for substantial normal variation in human declarative memory and suggest that the basic effects of BDNF signaling on hippocampal function in experimental animals are important in humans.	Cohort healthy individuals 										
138542	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Tsai, S. J.  et al. 2003	14582140				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Nov;123(1):19-22	Association study of a brain-derived neurotrophic-factor genetic polymorphism and major depressive disorders, symptomatology, and antidepressant response.		113505	8892	2	2003	This finding suggests the BDNF polymorphism investigated plays no major role in the pathogenesis of MDD.	Cohort 110 major depressive disorder patients who received a 4-week fluoxetine treatment ;Case:152 major depressive disorder patients;Control:255 normal controls	fluoxetine									
138543	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Szekeres, G.  et al. 2003	14623369	C-270T			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Schizophrenia research. 2003 Dec;65(1):15-8	The C270T polymorphism of the brain-derived neurotrophic factor gene is associated with schizophrenia.		113505	8893	2	2003	Further studies are warranted to elucidate the significance of this finding in the pathophysiology of schizophrenia.	Case:101 schizophrenic patients;Control:68:controls										
138544	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Rybakowski, J. K.  et al. 2003	14636373				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Bipolar disorders. 2003 Dec;5(6):468-72	Polymorphism of the brain-derived neurotrophic factor gene and performance on a cognitive prefrontal test in bipolar patients.		113505	8894	2	2003	 The results suggest a role of BDNF in prefrontal cognitive function in bipolar illness. The tests of prefrontal cognition may be considered as endophenotypic markers in bipolar illness.	Cohort 54 bipolar patients 										
138546	Y	affective psychoses	PSYCH	PSY	Mood Disorders	11	11p13	BDNF	27633017	27699872		Hong, C. J.  et al. 2003	14673216				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese		CDC GDPinfo	627	Hs.502182			Neuropsychobiology. 2003 ;48(4):186-9	Association study of a brain-derived neurotrophic-factor genetic polymorphism and mood disorders, age of onset and suicidal behavior.		113505	8896	2	2003	GiveY the fact that the positive associatioY betweeY BDYF geYe Val66Met polymorphism aYd bipolar disorder has oYly beeY demoYstrated for a CaucasiaY populatioY but Yot for a JapaYese aYalog or our ChiYese sample, it appears likely that this associatioY is ethYicity depeYdeYt.	Control:controls;Case Chinese individuals with depression										
138547	Y	personality disorders	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Itoh, K.  et al. 2004	14681916				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):61-3	Association between brain-derived neurotrophic factor 196 G/A polymorphism and personality traits in healthy subjects.		113505	8897	2	2004	Our findings suggest that BDNF 196 A/G polymorphism might be associated with personality traits in female, but not male, healthy subjects.	Cohort Japanese healthy subjects 										
138548	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Tsai, S. J.  et al. 2004	14730194	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese		CDC GDPinfo	627	Hs.502182			Neuropsychobiology. 2004 ;49(1):2-Oct	Association Analysis of Brain-Derived Neurotrophic Factor Val66Met Polymorphisms with Alzheimer's Disease and Age of Onset		113505	8898	2	2004	Our negative findings suggest that it is unlikely that the BDNF Val66Met polymorphism plays a major role in the pathogenesis of AD in the Chinese population and do not support previous findings that homozygosity for the 66Val allele confers an increased risk for AD. Further studies with genetic variations in BDNF relating either to AD-associated depression or to the AD treatment response are suggested.	Case Chinese Alzheimer's disease patients;Control:controls										
138549		personality disorders	NORMALVARIATION	NV		11	11p13	BDNF	27633017	27699872		Tsai, S. J.  et al. 2004	14730195	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuropsychobiology. 2004 ;49(1):13-6	Association Study of a Brain-Derived Neurotrophic Factor (BDNF) Val66Met Polymorphism and Personality Trait and Intelligence in Healthy Young Females		113505	8899	2	2004	These results suggest that genetic variants of the BDNF gene may play a role in specific cognitive functions, but not in overall intelligence. In contrast to a recent report, however, this polymorphism does not appear to be associated with the neuroticism-related personality trait.	Cohort 114 healthy young Chinese females 										
138550	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Combarros, O.  et al. 2004	15084795				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Spanish	Spain	CDC GDPinfo	627	Hs.502182			Dementia and geriatric cognitive disorders. 2004 ;18(1):55-8	Polymorphism at codon 66 of the brain-derived neurotrophic factor gene is not associated with sporadic Alzheimer's disease.		113505	8901	2	2004	The current study does not demonstrate any significant difference in Val66Met BDNF genotype or allele frequencies between AD patients and controls. Our study in the Spanish population argues against the hypothesis that this polymorphism is causally related to AD.	Control:218:controls;Case:237 Spanish sporadic Alzheimer's disease patients										
138551	Y	eating disorders	PSYCH	PSY	Genetic Predisposition to Disease|Eating Disorders	11	11p13	BDNF	27633017	27699872		Koizumi, H.  et al. 2004	15108194				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Japan	CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):125-7	Association between the brain-derived neurotrophic factor 196G/A polymorphism and eating disorders.		113505	8902	2	2004	This study suggests that the BDNF 196G/A gene polymorphism might be associated with a susceptibility to eating disorders.	Case:198 eating disorder patients;Control:222 nromal controls										
138552	N	panic disorder	PSYCH	PSY	Mitral Valve Prolapse|Agoraphobia|Panic Disorder	11	11p13	BDNF	27633017	27699872		Lam, P.  et al. 2004	15118353	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese		CDC GDPinfo	627	Hs.502182			Neuropsychobiology. 2004 ;49(4):178-81	Association study of a brain-derived neurotrophic factor (Val66Met) genetic polymorphism and panic disorder.		113505	8903	2	2004	These findings suggest that the investigated BDNF polymorphism does not play a major role in the pathogenesis of panic disorder in this Chinese population. Further studies exploring the relationship between genetic variations of BDNF and the cerebral atrophy associated with, and antidepressant treatment response in, panic disorder may be appropriate.	Case:103 panic disorder patients;Control:180 normal controls										
138553	N	seizures, febrile	NEUROLOGICAL	NEUR	Seizures, Febrile	11	11p13	BDNF	27633017	27699872		Chou, I. C.  et al. 2004	15279867	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Taiwan	CDC GDPinfo	627	Hs.502182			Epilepsy research. 2004 Jun;60(1):27-9	Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in febrile seizures		113505	8904	2	2004	Our findings suggest that the BDNF polymorphisms were not candidate genetic markers.	Case:104 Taiwanese children with febrile seizures;Control:83 normal control children										
138554	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Kunugi, H.  et al. 2004	15336520	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese		CDC GDPinfo	627	Hs.502182			Biological psychiatry. 2004 Sep;56(5):376-8	No association between the Val66Met polymorphism of the brain-derived neurotrophic factor gene and bipolar disorder in a Japanese population: amulticenter study		113505	8905	2	2004	 The Val66Met polymorphism of the BDNF gene is unrelated to the development or clinical features of bipolar disorder, at least in a Japanese population.	Case:519 patients with bipolar disorder from a multicenter:study;Control:588 control subjects matched for gender, age, and:ethnicity (Japanese)										
138556	N	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	11	11p13	BDNF	27633017	27699872		Itoh, K.  et al. 2004	15459944				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese	Japan	CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):70-3	Association study between brain-derived neurotrophic factor gene polymorphisms and methamphetamine abusers in Japan.		113505	8907	2	2004	These results suggest that the two SNPs (132C > T in exon V and 196G>A (val66met) in exon XIIIA) of the BDNF gene may not be associated with Japanese MAP abusers.	Control:controls;Case Japanese methamphetamine abusers										
138557	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Anttila, S.  et al. 2005	15526143				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			J Neural Transm. 2005 Jul;112(7):885-90	Lack of association between two polymorphisms of brain-derived neurotrophic factor and response to typical neuroleptics		113505	8908	2	2005			neuroleptic response									
138558	N	schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11p13	BDNF	27633017	27699872		Skibinska, M.  et al. 2004	15543516	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			The world journal of biological psychiatry. 2004 Oct;5(4):215-20	Association analysis of brain-derived neurotrophic factor (BDNF) gene Val66Met polymorphism in schizophrenia and bipolar affective disorder.		113505	8909	2	2004	No association was found between the studied polymorphism and schizophrenia or bipolar affective disorder either for genotype or allele distribution (for genotype: p=0.210 in schizophrenia, p=0.400 in bipolar disorder; for alleles: p=0.260 in schizophrenia, p=0.406 in bipolar disorder). Results were also not significant when analysed by gender.	Case:336/352 patients with schizophrenia (n=336) and bipolar affective disorder (n=352);Control:375 healthy controls										
138559	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p13	BDNF	27633017	27699872		Matsushita, S.  et al. 2004	15547445				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Alcoholism, clinical and experimental research. 2004 Nov;28(11):1609-12	Association study of brain-derived neurotrophic factor gene polymorphism and alcoholism.		113505	8910	2	2004	 These results indicate that BDNF gene polymorphism might modify phenotypes of alcoholism.	Control:336 nonalcoholic male subjects;Case:377 male Japanese alcoholic subjects										
138560	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Galderisi, S.  et al. 2005	15567073	val66met, C-270T			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Schizophrenia research. 2005 Feb;73(1):27-30	COMT Val(158)Met and BDNF C(270)T polymorphisms in schizophrenia: a case-control study.		113505	8911	2	2005	These results do not support the hypothesis that the COMT Val(158)Met or BDNF C(270)T gene polymorphisms are associated with liability to schizophrenia.	Case:106 patients with schizophrenia;Control:111 healthy subjects										
138561	N	memory impairment; psychoses	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease|Mood Disorders	11	11p13	BDNF	27633017	27699872		Strauss, J.  et al. 2004	15626819				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuromolecular medicine. 2004 ;5(3):181-92	BDNF and COMT polymorphisms: relation to memoryphenotypes in young adults with childhood-onset mood disorder.		113505	8912	2	2004	This study did not provide evidence supporting an association between BDNF and COMT genes and declarative memory phenotypes.	Cohort 63 young adults with a history of childhood-onset mood disorder 										
138563	Y	personality traits	PSYCH	PSY	Anxiety Disorders	11	11p13	BDNF	27633017	27699872		Lang, U. E.  et al. 2005	15918078				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Psychopharmacology. 2005 Jun;180(1):95-9	Association of a functional BDNF polymorphism and anxiety-related personality traits		113505	8914	2	2005	 Our findings support the hypothesis that anxiety- and depression-related personality traits are associated with the BDNF polymorphism although the explained variance is low.	Cohort 343 unrelated subjects of German descent (171 male, 172 										
138564	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Vepsalainen, S.  et al. 2005	15726264				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Finnish		CDC GDPinfo	627	Hs.502182			Journal of neurology. 2005 Apr;252(4):423-8	Genetic analysis of BDNF and TrkB gene polymorphisms in Alzheimer's disease.		113505	8915	2	2005	We conclude that  BDNF and TrkB genes are not contributing significant risk effect among Finnish AD patients.	Case:375 Finnish Alzheimer's disease patients (and a subset of 160 sporadic cases):Finland;Control:460:controls										
138566	Y	Alzheimer's disease; Parkinson's disease; multiple system atrophy	NEUROLOGICAL	NEUR	Multiple System Atrophy|Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Nishimura, M.  et al. 2005	15838855				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese	Japan	CDC GDPinfo	627	Hs.502182			Movement disorders. 2005 Aug;20(8):1031-3	Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy.		113505	8917	2	2005	Our data suggest that BDNF might play a role in AD.	Case:172/327/122 Japanese patients with Alzheimer's disease (AD, n = 172), Parkinson's disease (PD, n = 327), and multiple system atrophy (MSA, n = 122);Control:275:controls										
138567	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Desai, P.  et al. 2005	15843069				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005 May;379(3):229-34	Investigation of the effect of brain-derived neurotrophic factor (BDNF) polymorphisms on the risk of late-onset Alzheimer's disease (AD) and quantitative measures of AD progression.		113505	8918	2	2005	Our finding does not support any association between the BDNF/G196A or C270T polymorphism and the risk of sporadic LOAD among American Whites or Blacks. The significant effect of the C270T polymorphism observed on MMSE scores among American Blacks needs to be further explored in a larger cohort.	Control:45 Black controls;Case:64 Black Alzheimer's disease cases:US;Control:671 Caucasian controls;Case:995 Caucasian Alzheimer's disease cases:US										
138568	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Olin, D.  et al. 2005	15896483	C-270T			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005 Jun;381(3):275-8	Risk of late-onset Alzheimer's disease associated with BDNF C270T polymorphism.		113505	8919	2	2005	We concluded that BDNF gene variants are significant risk factors for late onset AD.	Control:101 controls in a replication test;Control:101:controls;Case:106 autopsy proven Alzheimer's disease cases;Case:106 autopsy proven Alzheimer's disease cases in a replication test										
138569	N	alcohol abuse; personality disorders	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Tsai, S. J.  et al. 2005	15896496	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese		CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005 Jun;381(3):340-3	A study of the association of (Val66Met) polymorphism in the brain-derived neurotrophic factor gene with alcohol dependence and extreme violence in Chinese males.		113505	8920	2	2005	The results showed that the genotype and allele frequencies for Val66Met polymorphism at the BDNF-gene site did not differ among the three groups. Furthermore, it was not demonstrated that this polymorphism is associated with antisocial personality disorder comorbidity in the extremely violent convicts. Based on these findings, it seems reasonable to suggest that this BDNF-gene Val66Met polymorphism is unlikely to play a major role in the genetic susceptibility to the traits of alcohol-dependence or violence proneness.	Case:110/134 cases of alcohol-dependence (n=110) and extremely violent convicts (n=134);Control:149 individuals without psychosis or mood disorders										
138570	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Lee, J.  et al. 2005	15899246				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Experimental neurology. 2005 Jul;194(1):91-6	Decreased levels of BDNF protein in Alzheimer temporal cortex are independent of BDNF polymorphisms.		113505	8921	2	2005	The results suggest that the investigated BDNF polymorphisms are neither robust genetic risk factors nor determinants of BDNF protein levels in AD.	Case:116 Alzheimer's disease cases;Control:77 control subjects										
138571	N	panic disorder	PSYCH	PSY	Agoraphobia|Panic Disorder	11	11p13	BDNF	27633017	27699872		Shimizu, E.  et al. 2005	15913870				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese		CDC GDPinfo	627	Hs.502182			Progress in neuro-psychopharmacology & biological psychiatry. 2005 Jun;29(5):708-12	No association of the brain-derived neurotrophic factor (BDNF) gene polymorphisms with panic disorder.		113505	8922	2	2005	This study suggests that the BDNF gene polymorphisms are not associated with panic disorder in our Japanese population.	Case:109 Japanese patients with panic disorder;Control:178 control subjects										
138572	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Szczepankiewicz, A.  et al. 2005	15949651	C-270T			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Schizophrenia research. 2005 Jul;76(3-Feb):187-93	No association of the brain-derived neurotrophic factor (BDNF) gene C-270T polymorphism with schizophrenia.		113505	8923	2	2005												
138573		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Lindquist, S.  et al. 2005	16046000	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Journal of neuroimmunology. 2005 Oct;167(2-Jan):183-5	The BDNF-Val66Met polymorphism: implications forsusceptibility to multiple sclerosis and severity of disease.		113505	8924	2	2005												
138574		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Bian, J. T.  et al. 2005	16054753				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese	China	CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005 Oct;387(1):6-Nov	Association analysis of brain-derived neurotrophic factor (BDNF) gene 196 A/G polymorphism with Alzheimer's disease (AD) in mainland Chinese.		113505	8925	2	2005												
138575	Y	methamphetamine abuse; substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Heroin Dependence	11	11p13	BDNF	27633017	27699872		Cheng, C. Y.  et al. 2005	16109452	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Brain research Molecular brain research. 2005 Oct;140(2-Jan):86-90	Brain-derived neurotrophic factor (Val66Met) genetic polymorphism is associated with substance abuse in males.		113505	8926	2	2005												
138576	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Lohoff, F. W.  et al. 2005	16152572	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):51-3	Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder.		113505	8927	2	2005												
138577		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Zintzaras, E.  et al. 2005	16172806				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Journal of human genetics. 2005 ;50(11):560-6	The role of G196A polymorphism in the brain-derived neurotrophic factor gene in the cause of Parkinson's disease: a meta-analysis.		113505	8928	2	2005												
138578		cognitive function; motor function	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Echeverria, D.  et al. 2005	16301096				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neurotoxicology and teratology. 2005 Nov-Dec;27(6):781-96	Chronic low-level mercury exposure, BDNF polymorphism, and associations with cognitive and motor function.		113505	8929	2	2005			mercury									
138579	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	11	11p13	BDNF	27633017	27699872			16343697	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neurobiology of aging. 2005	The Val66Met polymorphism of the brain-derived neurotrophic-factor gene is associated with geriatric depression		113505	8930	2	2005												
138580	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	11	11p13	BDNF	27633017	27699872			16356643	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005	No association of the Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) to multiple sclerosis		113505	8931	2	2005												
138581		brain morphology	NEUROLOGICAL	NEUR		11	11p13	BDNF	27633017	27699872			16388901	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2005	The Val66Met polymorphism of the brain-derived neurotrophic factor gene affects age-related brain morphology		113505	8932	2	2005												
138583	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Nakata, K.  et al. 2003	12524161				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2003 Jan;337(1):17-20	Association study of the brain-derived neurotrophic factor (BDNF) gene with bipolar disorder		113505	15421	2	2003	The results suggest that the BDNF gene is unlikely to confer susceptibility to BPD.	Case Japanese bipolar patients;Control:controls										
138584	Y	anorexia nervosa; bulimia	PSYCH	PSY	Weight Loss|Anorexia|Bulimia	11	11p13	BDNF	27633017	27699872		Ribases, M.  et al. 2004	15115760				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Europe	CDC GDPinfo	627	Hs.502182			Human molecular genetics. 2004 Jun;13(12):1205-12	Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations.		113505	15422	2	2004	These are the first two variants associated to the pathophysiology of ED in different populations and support a role of BDNF in the susceptibility to aberrant eating behaviors.	Control:controls;Case:1,142 Caucasian patients with eating disorders consecutively recruited in six different centers from five European countries France, Germany, Italy, Spain and UK										
138585	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p13	BDNF	27633017	27699872		Parsian, A.  et al. 2004	15120095			promoter	Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Parkinsonism & related disorders. 2004 Jun;10(4):213-9	Association of a variation in the promoter region of the brain-derived neurotrophic factor gene with familial Parkinson's disease.		113505	15423	2	2004	Our data indicate the possibility of linkage disequilibrium between the C270T variation and a mutation in coding region of the BDNF gene and suggest that this gene may play a role in the development of familial PD.	Case patients with familialand sporadic Parkinson's:disease;Control:controls										
138586	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Oswald, P.  et al. 2004	15274036				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):34-5	Non-replication of the brain-derived neurotrophic factor (BDNF) association in bipolar affective disorder: a Belgian patient-control study.		113505	15424	2	2004	We failed to replicate previous findings implicating BDNF in the aetiology of BPAD. However, BDNF remains an interesting target for future genetic studies and should be tested in prospective pharmacogenetic therapeutic trials.	Case:112 individuals with bipolar affective disorder of Belgian origin (at least two generations of Belgian:ancestors);Control:163:controls										
138587	Y	childhood-onset mood disorders	PSYCH	PSY	Mood Disorders	11	11p13	BDNF	27633017	27699872		Strauss, J.  et al. 2004	15384083				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Nov;131(1):16-9	Association study of brain-derived neurotrophic factor in adults with a history of childhood onset mood disorder.		113505	15426	2	2004	Analysis of haplotypes, in which (GT)(n) was treated as a binary variable (long vs. short alleles), provided significant evidence that the haplotype val/short contributes to liability to COMD. The BDNF (GT)(n) marker and the val/short haplotype are associated with COMD in this sample, in accordance with the previously described neurotrophic hypothesis of depression and some previous studies of association for bipolar disorder and neuroticism.	Control matched psychiatrically healthy controls;Case:99 adults with a history of childhood-onset mood:disorder										
138588	N	obesity; attention deficit hyperactivity disorder; anorexia nervosa; bulimia	METABOLIC	MET	Obesity|Eating Disorders|Attention Deficit Disorder with Hyperactivity	11	11p13	BDNF	27633017	27699872		Friedel, S.  et al. 2004	15457498				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):96-9	Mutation screen of the brain derived neurotrophic factor gene (BDNF): identification of severalgenetic variants and association studies in patients with obesity, eating disorders, and attention-deficit/hyperactivity disorder.		113505	15427	2	2004	We found no association between p.V66M or the additionally genotyped variant c.-46C > T and obesity, ADHD or eating disorders.	Case:118/80/88 patients with anorexia nervosa(n=118), patients with bulimia nervosa(n=80), and patients with ADHD:n=88);Case:183 extremely obese children and adolescents;Control:187 underweight students;Control:90 normal weight controls										
138589		schizophrenia; schizoaffective disorder; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	11	11p13	BDNF	27633017	27699872		Neves-Pereira, M.  et al. 2005	15630410				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Scottish	Scotland	CDC GDPinfo	627	Hs.502182			Molecular psychiatry. 2005 Feb;10(2):208-12	BDNF gene is a risk factor for schizophrenia in a Scottish population.		113505	15428	2	2005	We conclude that , although the val66met polymorphism has been reported to alter gene function, the risk may depend upon the haplotypic background on which the val/met variant is carried.	Case:321/263 probands with a primary diagnosis of schizophrenia or schizoaffective disorder) (n=321, and patients with a diagnosis of bipolar affective disorder:(n=263):Scotland;Control:350 controls drawn from the same geogrphical region as:cases										
138590	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Bodner, S. M.  et al. 2005	15635706				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):5-Jan	Genetic variation in the brain derived neurotrophic factor gene in Alzheimer's disease.		113505	15429	2	2005	We did not find a significant association between the three BDNF SNPs studied and AD when evaluated individually or with haplotype analysis. Nor did BDNF genotype appear to affect the APOE epsilon4 association with AD. The three SNPs studied were closely linked (D' = 0.99 across the region). We discuss possible reasons for our failure to confirm the previously reported associations.	Control:194 unrelated controls;Case:250 Alzheimer's disease cases										
138591		memory impairment	NEUROLOGICAL	NEUR		11	11p13	BDNF	27633017	27699872		Dempster, E.  et al. 2005	15719396	val66 met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):73-5	Association between BDNF val66 met genotype and episodic memory.		113505	15430	2	2005	We found the met(66) allele conferred a lower score on the WMS delayed measure (R(2) = 0.014 P = 0.09), which was not significant. When cases and unaffected relatives were analyzed separately, met(66) was associated with a lower score on the WMS delayed measure in the relatives only (R(2) = 0.077 P = 0.01), which is consistent with previous findings.	Cohort 206 individuals (92 affected with schizophrenia or a related disorder and 114 unaffected relatives) from the Maudsley Family Study 										
138593		schizophrenia; depressive disorder, major; bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Schizophrenia	11	11p13	BDNF	27633017	27699872		Schumacher, J.  et al. 2005	16005437				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Biological psychiatry. 2005 Aug;58(4):307-14	Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression.		113505	15432	2	2005	 Association studies of genetic variants of the BDNF gene with various psychiatric disorders have been published with reports of associations and nonreplications. Our findings suggest that BDNF may be a susceptibility gene for MDD and schizophrenia-in particular, in a subgroup of patients with schizophrenia with a lifetime history of depressive symptoms.											
138594		neuroticism	PSYCH	PSY	Neurotic Disorders	11	11p13	BDNF	27633017	27699872		Willis-Owen, S. A.  et al. 2005	16043130	val66 met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Biological psychiatry. 2005 Nov;58(9):738-42	The Val66Met coding variant of the brain-derived neurotrophic factor (BDNF) gene does not contribute toward variation in the personality trait neuroticism.		113505	15433	2	2005	 These data do not support the hypothesis that the val66met BDNF polymorphism contributes toward variation in the human personality trait neuroticism, at least as indexed by the Eysenck Personality Questionnaire.											
138595	N	epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe	11	11p13	BDNF	27633017	27699872		Lohoff, F. W.  et al. 2005	16105728				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Epilepsy research. 2005 Aug-Sep;66(3-Jan):59-62	Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy.		113505	15434	2	2005												
138596		affective psychoses	PSYCH	PSY	Depressive Disorder	11	11p13	BDNF	27633017	27699872		Oswald, P.  et al. 2005	16139165				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			European neuropsychopharmacology. 2005 Oct;15(5):491-5	No implication of brain-derived neurotrophic factor (BDNF) gene in unipolar affective disorder:evidence from Belgian first and replication patient-control studies.		113505	15435	2	2005												
138597		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	11	11p13	BDNF	27633017	27699872		Beuten, J.  et al. 2005	16152573				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	European American males		CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):73-80	Significant association of BDNF haplotypes in European-American male smokers but not in European-American female or African-American smokers.		113505	15436	2	2005												
138598	Y	Parkinsons disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872			16344533				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neurology. 2005 Dec;65(11):1823-5	BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study		113505	15437	2	2005												
138599		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872			16388065				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			The British journal of psychiatry. 2006 Jan;188:21-5	Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: Case-controlstudy of over 3000 individuals from the UK		113505	15438	2	2006	 Variation at the Val66Met polymorphism of BDNF does not play a major role in influencing susceptibility to bipolar disorder as a whole, but is associated with susceptibility to the rapid-cycling subset of the disorder.											
138600	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Kunugi, H.  et al. 2001	11244490				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Molecular psychiatry. 2001 Jan;6(1):83-6	A novel polymorphism of the brain-derived neurotrophic factor (BDNF) gene associated with late-onset Alzheimer's disease.		113505	20585	2	2001	Our results suggest that the C270T polymorphism of the BDNF gene or other unknown polymorphisms, which are in linkage disequilibrium, give susceptibility to late-onset AD. We obtained no evidence for the possible interactions between the BDNF and apolipoprotein E (APOE) genes, suggesting that the possible effect of the BDNF gene on the development of late-onset AD might be independent of the APOE genotype.	Case:170 patients with sporadic AD (51 early-onset and 119:late-onset);Control:498:controls										
138601	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Riemenschneider, M.  et al. 2002	12192623				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Germany	CDC GDPinfo	627	Hs.502182			Molecular psychiatry. 2002 ;7(7):782-5	A polymorphism of the brain-derived neurotrophic factor (BDNF) is associated with Alzheimer's disease in patients lacking the Apolipoprotein E epsilon4 allele		113505	20586	2	2002	The results suggest that the BDNF C-270T polymorphism is a relevant risk factor for AD particularly in patients lacking the ApoE epsilon4 allele in this German sample.	Cohort 188 cognitively healthy controls ;Case:210 patients with Alzheimer's disease										
138602		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Nishimura, A. L.  et al. 2004	14997020				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Brazil	CDC GDPinfo	627	Hs.502182			Journal of molecular neuroscience. 2004 ;22(3):257-60	Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.		113505	20587	2	2004	The possibility that other polymorphisms or mutations in this gene play a role in the development of AD cannot be ruled out. However, the results of the present study suggest that in opposition to the two reported studies, this polymorphism does not seem to be implicated in LOAD Brazilian patients. It also shows the importance of replication studies in different populations, as susceptibility loci might differ in different ethnic groups; this will have important implications in future treatments with pharmacological agents.	Control matched normal controls;Case:188 late onset Alzheimer's disease patients:Brazil										
138603	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Nacmias, B.  et al. 2004	15337270				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2004 Sep;367(3):379-83	Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease		113505	20588	2	2004	Our data confirm a specific effect caused by the presence and amount of ApoE 4 allele, while they suggest that BDNF genetic variants are not a susceptibility factor to AD.	Cohort mild-moderate Alzheimer's disease (AD) cases 										
138604		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872			16391475				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese		CDC GDPinfo	627	Hs.502182			Dementia and geriatric cognitive disorders. 2006 ;21(3):139-43	The Brain-Derived Neurotrophic Factor Gene as a Possible Susceptibility Candidate for Alzheimer's Disease in a Chinese Population		113505	20589	2	2006												
138605		primary melanomas.	CANCER	CAN	Melanoma|Skin Neoplasms|Neoplasm Invasiveness	7	7q34	BRAF	140080751	140271033		Maldonado JL 2003	14679157				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			KGB	673	Hs.550061			Journal of the National Cancer Institute. 2003 Dec;95(24):1878-90	Determinants of BRAF mutations in primary melanomas.		164757	6881	1	2003												
138606		papillary thyroid cancers.	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis	7	7q34	BRAF	140080751	140271033		Namba H 2003	12970315				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			KGB	673	Hs.550061			The Journal of clinical endocrinology and metabolism. 2003 Sep;88(9):4393-7	Clinical implication of hot spot BRAF mutation, V599E~~~ in papillary thyroid cancers.		164757	6882	1	2003												
138607		papillary thyroid carcinoma	CANCER	CAN	Carcinoma, Papillary, Follicular|Carcinoma, Papillary|Thyroid Neoplasms	7	7q34	BRAF	140080751	140271033		Trovisco V 2004	14743508				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			KGB	673	Hs.550061			The Journal of pathology. 2004 Feb;202(2):247-51	BRAF mutations are associated with some histological types of papillary thyroid carcinoma.		164757	6883	1	2004												
138609	N	ovarian cancer	CANCER	CAN	Cystadenocarcinoma, Serous|Ovarian Neoplasms|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Kelemen, L.  et al. 2005	15904951				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Gynecologic oncology. 2005 Jun;97(3):807-12	BRAF polymorphisms and the risk of ovarian cancer of low malignant potential.		164757	8941	2	2005	 We found no evidence to suggest that BRAF is a low-risk LMP ovarian cancer susceptibility gene.	Case:383 low malignant potential ovarian cancer;Control:987:controls										
138610		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Diseases in Twins	7	7q34	BRAF	140080751	140271033			16354196				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			The Journal of investigative dermatology. 2005 Dec;125(6):1252-8	BRAF Polymorphisms and Risk of Melanocytic Neoplasia		164757	8942	2	2005												
138611		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms	7	7q34	BRAF	140080751	140271033		Rosenbaum, E.  et al. 2005	15968271				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Modern pathology. 2005 Jul;18(7):898-902	Mutational activation of BRAF is not a major event in sporadic childhood papillary thyroid carcinoma.		164757	15461	2	2005												
138612		colorectal cancer; stomach cancer	CANCER	CAN	Colonic Neoplasms|Stomach Neoplasms	7	7q34	BRAF	140080751	140271033		Velho, S.  et al. 2005	15994075				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Eur J Cancer. 2005 Jul;41(11):1649-54	The prevalence of PIK3CA mutations in gastric and colon cancer.		164757	15462	2	2005												
138613		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7q34	BRAF	140080751	140271033		Lubomierski, N.  et al. 2005	16015629				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Cancer. 2005 Sep;104(5):952-61	BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors.		164757	15463	2	2005	 Although BRAF V599E was common in colorectal carcinomas with MSI, it was not a consequence of deficient mismatch repair. The current data showed instead that the BRAF V599E mutation was associated only with a subgroup of colorectal carcinomas with MSI that were obtained from older patients without hereditary nonpolyposis colorectal carcinoma and showed epigenetic silencing of hMLH1. These results indicated that tumors with MSI caused by epigenetic MLH1 silencing have a distinct mutational background from that of tumors with genetic loss of mismatch repair, suggesting that there are two genetically distinct entities of microsatellite-instable tumors.											
138614	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms	7	7q34	BRAF	140080751	140271033		Samowitz, W. S.  et al. 2005	16024606	V600E			V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Cancer research. 2005 Jul;65(14):6063-9	Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers.		164757	15464	2	2005	We conclude that  the BRAF V600E mutation in microsatellite-stable colon cancer is associated with a significantly poorer survival in stages 2 to 4 colon cancer but has no effect on the excellent prognosis of microsatellite-unstable tumors.											
138615	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	7	7q34	BRAF	140080751	140271033		Akslen, L. A.  et al. 2005	16098042				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			The Journal of investigative dermatology. 2005 Aug;125(2):312-7	BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival.		164757	15465	2	2005												
138616		thyroid cancer; Hashimoto thyroiditis	CANCER	CAN	Adenocarcinoma, Papillary|Thyroid Neoplasms|Thyroiditis, Autoimmune	7	7q34	BRAF	140080751	140271033		Kim, K. H.  et al. 2005	16143028				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Pathology international. 2005 Sep;55(9):540-5	Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto's thyroiditis.		164757	15466	2	2005												
138617		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Endometrial Hyperplasia	7	7q34	BRAF	140080751	140271033		Feng, Y. Z.  et al. 2005	16144912				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Clinical cancer research. 2005 Sep;11(17):6133-8	BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53mutations and mismatch repair protein expression.		164757	15467	2	2005	 These findings suggest that mutations of the BRAF gene are partly involved in the malignant transformation of the endometrium.											
138618		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Xing, M.  et al. 2005	16174717				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			The Journal of clinical endocrinology and metabolism. 2005 Dec;90(12):6373-9	BRAF Mutation Predicts a Poorer Clinical Prognosis for Papillary Thyroid Cancer.		164757	15468	2	2005	 In patients with PTC, BRAF mutation is associated with poorer clinicopathological outcomes and independently predicts recurrence. Therefore, BRAF mutation may be a useful molecular marker to assist in risk stratification for patients with PTC.											
138620	N	thryoid cancer	CANCER	CAN	Adenoma|Thyroid Neoplasms	7	7q34	BRAF	140080751	140271033		Kim, T. Y.  et al. 2005	16268813				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3	Korean	Korea	CDC GDPinfo	673	Hs.550061			Clinical endocrinology. 2005 Nov;63(5):588-93	The BRAF mutation is not associated with poor prognostic factors in Korean patients with conventional papillary thyroid microcarcinoma.		164757	15470	2	2005	 In Korean patients with conventional micro-PTC, the presence of the BRAF(V600E) mutation was not significantly associated with prognostic factors.											
138621		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033			16376942	V599E			V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3	Japanese		CDC GDPinfo	673	Hs.550061			The Journal of surgical research. 2005	Uncommon V599E BRAF Mutations in Japanese Patients with Lung Cancer		164757	15471	2	2005	 V599E BRAF mutation was uncommon in Japanese lung cancer. All three genes mutations were predominantly found in female nonsmoking subjects with adenocarcinomas. However, completely exclusive mutation status would help us to choose custom-made molecular target therapy for the lung cancer.											
138622	N	schizophrenia; cocaine abuse	PSYCH	PSY	Cocaine-Related Disorders|Schizophrenia	7	7q34	CALCYON	139841028	139841441		Luo, X.  et al. 2004	14755439				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK098095			CDC GDPinfo	673	Hs.490366			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Feb;125(1):25-30	CALCYON gene variation, schizophrenia, and cocaine dependence.		604647	15534	2	2004	These results suggest that these two genetic variants in the CALCYON gene do not play a major role in predisposition to either schizophrenia or cocaine dependence in AA or EA subjects. Furthermore, these findings begin to establish a haplotype map for this gene in the AA and EA populations.	Control:46/207 African-American (46) and European-American (207) control subjects;Case:70/206/90/118 subjects with schizophrenia (African-American (n=70) and European-American (206) and cocaine:dependence (African-American (n=90) and:European-American (118)										
138623	N	RNA expression	UNKNOWN	UNK	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q13-q22.1	CES1	54394264	54424576		Marsh, S.  et al. 2004	15475243				Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025195.1			CDC GDPinfo	1066	Hs.558865			Genomics. 2004 Oct;84(4):661-8	Pharmacogenomic assessment of carboxylesterases 1 and 2.		114835	15740	2	2004	No association between SNPs in CES1 or CES2 was found with respect to RNA expression in normal colonic mucosa; however, an intronic SNP (IVS10-88) in CES2 was associated with reduced CES2 mRNA expression in colorectal tumors. Functional analysis of the novel polymorphisms described in this study is now warranted to identify putative roles in drug metabolism.	Cohort 190 healthy European and African individuals 										
138624		thyroid cancer	CANCER	CAN	Adenoma|Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms|Lymphatic Metastasis|Hashimoto Disease	7	7q34	BRAF	140080751	140271033		Zhu, X. L.  et al. 2005	16181547				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Zhonghua bing li xue za zhi Chinese journal of pathology. 2005 May;34(5):270-4	[BRAFV599E mutation and RET/PTC rearrangements in papillary thyroid carcinoma]		164757	19245	2	2005	 (1) BRAF(V599E) mutation and RET/PTC rearrangements were unique to PTC. The high prevalence of BRAF(V599E) mutation indicates that it is an important molecular hallmark of PTC. (2) BRAF(V599E) mutation rate was high in classic type PTC and tall cell type inferred that BRAF(V599E) mutation played an important role in their etiopathogenesis. (3) There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements suggest that they are alternative events in PTC.											
138626		diffuse systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	6		C4	32090601	32111173		Venneker GT et al. 1998	9691203				complement component 4A (Rodgers blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC063289			KGB	720	Hs.567243			Experimental and clinical immunogenetics. 1998 ;15(2):90-9	Molecular heterogeneity of second and fourth components of complement and their genes in systemic sclerosis and association of HLA alleles A1 B8 and DR3 with limited and DR5 with diffuse systemic sclerosis.			1031	1	1998												
138628	Y	C4gene deletion	HEMATOLOGICAL	HEM	Hepatitis|Autoimmune Diseases	6	6p21.3	C4A	32057812	32078435		Scully LJ et al. 1993	8482459				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			KGB	720	Hs.534847			Gastroenterology. 1993 May;104(5):1478-84	Early-onset autoimmune hepatitis is associated with a C4A gene deletion.		120810	7551	1	1993	 A C4A gene deletion is found in patients with autoimmune hepatitis, especially those presenting at a young age. This complement gene deletion may be an important factor in the development of this disease.											
138629		Graves disease	IMMUNE	IMM	Graves Disease|Chromosome Deletion	6	6p21.3	C4A	32057812	32078435		Ratanachaiyavong S et al. 1989	2570594				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			KGB	720	Hs.534847			Journal of molecular endocrinology. 1989 Sep;3(2):145-53	C4A gene deletion: association with Graves' disease.		120810	7552	1	1989												
138630		body mass index	METABOLIC	MET		6	6p21.3	C4A	32057812	32078435		Yang Y 2003	12928427				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			KGB	720	Hs.534847			Journal of immunology (Baltimore, Md :  1950). 2003 Sep;171(5):2734-45	Diversity in intrinsic strengths of the human complement system: serum C4 protein concentrations correlate with C4 gene size and polygenic variations, hemolytic activities~~~ and body mass index.		120810	7553	1	2003												
138631		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Chromosome Deletion	6	6p21.3	C4A	32057812	32078435		Yamada H 1990	1976809				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2	Japanese		Y Wang	720	Hs.534847			The Journal of rheumatology. 1990 Aug;17(8):1054-7	Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus.		120810	7554	1	1990												
138632		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	C4A	32057812	32078435		Huang DF1995	7706484				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2		Canada|United States	Y Wang	720	Hs.534847			The Journal of clinical investigation. 1995 Apr;95(4):1766-72	Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.		120810	7555	1	1995												
138633		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Chromosome Deletion	6	6p21.3	C4A	32057812	32078435		Olsen ML 1989	2568334				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2		United States	Y Wang	720	Hs.534847			Immunogenetics. 1989 ;30(1):27-33	C4A gene deletion and HLA associations in black Americans with systemic lupus erythematosus.		120810	7556	1	1989	We conclude that  a large C4A,CYP21A gene deletion, particularly associated with the HLA-B44, -DR2, and -DR3 alleles, is the strongest genetic risk factor thus far identified for SLE susceptibility in black Americans. Furthermore, the unique preponderance of the C4B short gene form may be a factor in the actual formation of the deletion.											
138634		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	C4A	32057812	32078435		Skarsvag S1995	7481564	C4A null			Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			Y Wang	720	Hs.534847			Scandinavian journal of immunology. 1995 Nov;42(5):572-6	The importance of C4A null genes in Norwegian patients with systemic lupus erythematosus.		120810	7557	1	1995												
138637	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	C4A	32057812	32078435		Dragon-Durey, M. A.  et al. 2001	11168010				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			CDC GDPinfo	720	Hs.534847			Clinical and experimental immunology. 2001 Jan;123(1):133-9	Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).		120810	15518	2	2001	Our results argue against a specific role for C4A gene deficiency in determining disease susceptibility among patients with SLE that are C4-deficient.	Cohort 125 unselected patients with systemic lupus erythematosus 										
138638	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	C4A	32057812	32078435		Man, X. Y.  et al. 2003	12480675				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2	Chinese	China	CDC GDPinfo	720	Hs.534847			Annals of the rheumatic diseases. 2003 Jan;62(1):71-3	Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupuserythematosus in southwest Han Chinese.		120810	15519	2	2003	 It is suggested that deficiency of C4A (not due to a 2 bp insertion in exon 29), but not C4B or C2, may be a risk factor for acquiring SLE in south west Han Chinese; this results in increased risk of renal disorder, serositis, and anti-dsDNA antibodies in patients with SLE. Racial differences seem to be relevant in susceptibility to SLE	Case:136 southwest Han Chinese patients with systemic lupus:erythematosus;Control:174 matched controls										
138639		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	C4A	32057812	32078435		Ittiprasert, W.  et al. 2005	15998580				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2	Thai		CDC GDPinfo	720	Hs.534847			Journal of autoimmunity. 2005 Aug;25(1):77-84	Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations.		120810	15520	2	2005												
138640		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	6	6p21.3	C4A	32057812	32078435		Tsao, B. P.   2002	12126589				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			CDC GDPinfo	720	Hs.534847			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		120810	20631	2	2002	Review article											
138641		decreased circulating C4 and predominant mesangial C4 deposition	OTHER	OTH	Hematuria|Glomerulonephritis	6		C4	32090601	32111173		Romeo G et al. 1986	3086762				complement component 4B (Childo blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC063289			KGB	721	Hs.534847			Nephron. 1986 ;43(2):128-32	Mesangial glomerulonephropathy with decreased circulating C4 and predominant mesangial C4 deposition in association with one null gene at the C4B locus.			1032	1	1986												
138643	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	14	14q24-q31	CALM1	89933125	89944363			16359877			promoter	Calmodulin 1 (phosphorylase kinase, delta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006888.3	Caucasian		CDC GDPinfo	801	Hs.282410			Osteoarthritis and cartilage. 2005	The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population		114180	8973	2	2005	 Our data on a cohort of 1672 individuals implies that the CALM1 core promoter polymorphism is not a risk factor for OA etiology in Caucasians. Our study does not call in to question the veracity of the Japanese report. Instead it highlights the heterogeneous nature of OA genetic susceptibility.											
138644		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies	15	15q15.1-q21.1	CAPN3	40427592	40491807		Canki-Klain, N.  et al. 2004	14981715	550delA			Glucosidase, alpha; neutral C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000070.2		Croatia	CDC GDPinfo	825	Hs.143261			American journal of medical genetics Part A. 2004 Mar;125(2):152-6	Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia		114240	15561	2	2004	Our results, combined with published haplotype studies suggest that 550delA originated in the Eastern Mediterranean from which it has probably spread widely across Europe. Extending this study to other areas would help to address this epidemiological question. Our data are relevant to accurate genetic counseling and patient testing since we lack sensitive and specific biopsy screening methods for detecting patients with calpainopathy. Thus, detection of patients relies on the direct detection of gene mutation and our findings may be helpful in establishing diagnostic screening strategy.	Cohort 532 random blood samples from 3 different regions Croatia 										
138645		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies	15	15q15.1-q21.1	CAPN3	40427592	40491807		Fanin, M.  et al. 2004	15221789				Glucosidase, alpha; neutral C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000070.2			CDC GDPinfo	825	Hs.143261			Human mutation. 2004 Jul;24(1):52-62	Molecular diagnosis in LGMD2A: mutation analysis orprotein testing?		114240	15562	2	2004	This study reports the largest collection of LGMD2A patients so far in which both protein and gene mutations were obtained to draw genotype-protein-phenotype correlations and provide insights into a critical protein domain.	Cohort unclassified limb girdle muscular dystrophy patients with various phenotypes 										
138646		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies, Limb-Girdle|Disease Progression	15	15q15.1-q21.1	CAPN3	40427592	40491807		Saenz, A.  et al. 2005	15689361				Glucosidase, alpha; neutral C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000070.2			CDC GDPinfo	825	Hs.143261			Brain. 2005 Apr;128(Pt 4):732-42	LGMD2A: genotype-phenotype correlations based on alarge mutational survey on the calpain 3 gene.		114240	15563	2	2005	Considering both the clinical phenotype and the biochemical information together, the probability of correctly diagnosing a calpainopathy is very high (90.8%). However, if one of the analyses is lacking, the probability varies from 78.3 to 73.7% depending on the information available. When both tests are negative, the probability that the sample comes from a patient with LGMD2A was 12.2%.	Cohort 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene 										
138647		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies, Limb-Girdle	15	15q15.1-q21.1	CAPN3	40427592	40491807		Fanin, M.  et al. 2005	15725583				Glucosidase, alpha; neutral C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000070.2	Italian	Italy	CDC GDPinfo	825	Hs.143261			Neuromuscular disorders. 2005 Mar;15(3):218-24	The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.		114240	15564	2	2005	Our results indicate that LGMD2A is one of the most frequent autosomal recessive disorders, thus finding its molecular characterization becoming increasingly important.	Cohort 84 limb girdle muscular dystrophy patients northeastern Italy 										
138648		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies, Limb-Girdle	15	15q15.1-q21.1	CAPN3	40427592	40491807		Piluso, G.  et al. 2005	16141003				Glucosidase, alpha; neutral C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000070.2			CDC GDPinfo	825	Hs.143261			Journal of medical genetics. 2005 Sep;42(9):686-93	Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.		114240	15565	2	2005	 A non-invasive and cost-effective strategy, based on the high throughput denaturing HPLC analysis of DNA pools, was used to obtain unbiased information on the consequences of CAPN3 mutations in the largest genetic study ever undertaken. This broadens the spectrum of LGMD2A phenotypes and sets the carrier frequency at 1:103.											
138650	Y	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	19		CD22	40511931	40530104	0.048	Hatta Y et al. 1999	10079291	Q152E		coding sequence	CD22 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001771.1	Japanese		Tsuchiya N	933	Hs.643440			Immunogenetics. 1999 Apr;49(4):280-6			107266	7564	1	1999		Case:68; Control:207										
138651	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	19		CD22	40511931	40530104	n	Hatta Y et al. 1999	10079291				CD22 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001771.1	Japanese		Tsuchiya N	933	Hs.643440			Immunogenetics. 1999 Apr;49(4):280-6			107266	7565	1	1999		Case:119; Control:207										
138652		Cancer	CANCER	CAN		9	9p21	CDKN2A	21957750	21965038		Lilischkis R et al. 1996	8603820				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			KGB	1029	Hs.512599			International journal of cancer. Journal internati	Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity.		600160	1202	1	1996												
138653	Y	esophageal squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis	9		CDKN2A	21957750	21965038		Maesawa C et al. 1996	8752149				cyclin-dependent kinase inhibitor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			KGB	1029	Hs.512599			Cancer research. 1996 Sep;56(17):3875-8	Inactivation of the CDKN2 gene by homozygous deletion and de novo methylation is associated with advanced stage esophageal squamous cell carcinoma.		600160	1203	1	1996												
138654	Y	adult T-cell leukemia	CANCER	CAN	Leukemia, T-Cell	9		CDKN2A	21957750	21965038		Fujiwara H et al. 1999	10378889				cyclin-dependent kinase inhibitor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			KGB	1029	Hs.512599			Experimental hematology. 1999 Jun;27(6):1004-9	Alteration of p16 (CDKN2) gene is associated with interleukin-2-induced tumor cell growth in adult T-cell leukemia.		600160	1204	1	1999												
138656	Y	familial melanoma	CANCER	CAN	Melanoma|Nevus, Pigmented|Skin Neoplasms|Genetic Predisposition to Disease|Diseases in Twins	9	9p21	CDKN2A	21957750	21965038		Zhu G et al. 1999	10417291				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599	mole density		American journal of human genetics. 1999 Aug;65(2):483-92	A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs.		600160	6908	1	1999												
138658		DNA replication error and shorter survival	CANCER	CAN	Colorectal Neoplasms	9	9p21	CDKN2A	21957750	21965038		Liang JT et al. 1999	10461063				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Oncology. 1999 ;57(2):149-56	Hypermethylation of the p16 gene in sporadic T3N0M0 stage colorectal cancers: association with DNA replication error and shorter survival.		600160	6910	1	1999												
138659		aberrant promoter methylation of P16(INK4a) and O(6)-methylguanine-DNA methyltransferase	OTHER	OTH	Lung Neoplasms|Occupational Diseases	9	9p21	CDKN2A	21957750	21965038		Gilliland FD et al. 2002	11956078			promoter	Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Cancer research. 2002 Apr;62(8):2248-52	Glutathione S-transferase P1 and NADPH quinone oxidoreductase polymorphisms are associated with aberrant promoter methylation of P16(INK4a) and O(6)-methylguanine-DNA methyltransferase in sputum.		600160	6911	1	2002												
138660		gastric adenocarcinomas	CANCER	CAN	Epstein-Barr Virus Infections|Adenocarcinoma|Stomach Neoplasms	9	9p21	CDKN2A	21957750	21965038		Vo QN et al. 2002	12194996			promoter	Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		United States	KGB	1029	Hs.512599			Journal of clinical pathology. 2002 Sep;55(9):669-75	Epstein-Barr virus in gastric adenocarcinomas: association with ethnicity and CDKN2A promoter methylation.		600160	6912	1	2002	 The presence of EBV in gastric adenocarcinomas is strongly associated with CDKN2A inactivation by promoter methylation. In addition, these findings suggest that there are ethnic differences in tumour virology and pathogenesis.											
138661	Y	lung carcinoma	CANCER	CAN	Carcinoma, Small Cell|Lung Neoplasms|Chromosome Deletion	9	9p21	CDKN2A	21957750	21965038		Hamada K et al. 1998	9624535				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Genes, chromosomes & cancer. 1998 Jul;22(3):232-40	Association of CDKN2A(p16)/CDKN2B(p15) alterations and homozygous chromosome arm 9p deletions in human lung carcinoma.		600160	6913	1	1998												
138663	Y	oligodendrogliomas	CANCER	CAN	Glioma|Oligodendroglioma|Central Nervous System Neoplasms|Necrosis	9	9p21	CDKN2A	21957750	21965038		Godfraind C 2003	14507338				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Neuropathology and applied neurobiology. 2003 Oct;29(5):462-71	Tumour necrosis and microvascular proliferation are associated with 9p deletion and CDKN2A alterations in 1p/19q-deleted oligodendrogliomas.		600160	6915	1	2003												
138664	N	Ocular melanoma	CANCER	CAN	Melanoma|Eye Neoplasms	9	9p21	CDKN2A	21957750	21965038	n	Vajdic C 2003	12883368				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3	unknown		KGB	1029	Hs.512599			Melanoma research. 2003 Aug;13(4):409-13	Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.		600160	6916	1	2003	Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.	Control ethnicity-matched population controls;Case:62 ocular melanomal cases										
138666		superficial bladder tumors	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	9	9p21	CDKN2A	21957750	21965038		Orlow I et al. 1999	10393843				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			The American journal of pathology. 1999 Jul;155(1):105-13	Deletions of the INK4A gene in superficial bladder tumors. Association with recurrence.		600160	6918	1	1999												
138667		oral carcinoma	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Mouth Neoplasms|Precancerous Conditions	9	9p21	CDKN2A	21957750	21965038		Gasco M et al. 2002	11929827				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Cancer research. 2002 Apr;62(7):2072-6	Epigenetic inactivation of 14-3-3 sigma in oral carcinoma: association with p16(INK4a) silencing and human papillomavirus negativity.		600160	6919	1	2002												
138668		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	9	9p21	CDKN2A	21957750	21965038		Olshan AF et al. 1997	9047388				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Oncogene. 1997 Feb;14(7):811-8	Alterations of the p16 gene in head and neck cancer: frequency and association with p53 PRAD-1 and HPV.		600160	6920	1	1997												
138669	N	melanoma; nevus	CANCER	CAN	Melanoma|Nevus|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Bertram, C. G.  et al. 2002	12406345				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			The Journal of investigative dermatology. 2002 Oct;119(4):961-5	An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele.		600160	9356	2	2002	There was no association between Ala148Thr status and nevus number or history of melanoma, and therefore the results did not support the hypothesis that the Ala148Thr variant is a low penetrance melanoma or nevus susceptibility allele. A significant protective role of Ala148Thr on the number of atypical nevi was observed in the family sample (mean of 1 atypical nevus in those with the allele and 3.5 nevi in those without, p = 0.02). After allowing for potential confounders this was not evident in the population-based sample.	Cohort 599 women from a population-based sample 										
138670	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Neoplasms, Multiple Primary|Neoplasm Invasiveness|Disease Progression	9	9p21	CDKN2A	21957750	21965038		Sakano, S.  et al. 2003	12532425				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Sweden	CDC GDPinfo	1029	Hs.512599			International journal of cancer. Journal international du cancer. 2003 Mar;104(1):98-103	Clinical course of bladder neoplasms and single nucleotide polymorphisms in the CDKN2A gene.		600160	9357	2	2003	Our results corroborate the earlier findings that single base mutation is not the prime mode of inactivation of the CDKN2A gene in bladder cancer. Further, the results indicate, a role for the 3' UTR polymorphisms in the CDKN2A gene in tumor invasiveness.	Cohort 172/309 bladder cancer patients in which mutations from 4 exons (n=172) and 2 single nucleotide polymorphisms in the 3' UTR (n=309) of the CDKN2A gene were studied 										
138671		melanoma; dysplastic nevi; nevi, total	CANCER	CAN	Melanoma|Nevus|Dysplastic Nevus Syndrome|Skin Neoplasms	9	9p21	CDKN2A	21957750	21965038		Goldstein, A. M.  et al. 2000	11008905				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		United States	CDC GDPinfo	1029	Hs.512599			Cancer epidemiology, biomarkers & prevention. 2000 Sep;9(9):889-94	Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families		600160	15712	2	2000	The CDKN2A-DN interaction illustrates the complex etiology of melanoma and needs to be confirmed in a larger sample of families.	Cohort 20 American melanoma-prone families, 13 of which had cosegregating CDKN2A mutation 	solar injury									
138672		melanoma, cutaneous	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Hashemi, J.  et al. 2000	11156381				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Cancer research. 2000 Dec;60(24):6864-7	CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.		600160	15713	2	2000	We conclude that  mutation screening of individuals with multiple primary melanomas is a useful strategy to identify new melanoma kindreds with CDKN2A germ-line mutations.	Cohort 80 individuals with at least two primary cutaneous melanomas, identified mainly by a search of regional cancer registry 										
138673	N	squamous cell carcinoma of the head and neck	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Neoplasms, Second Primary|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Jefferies, S.  et al. 2001	11720478				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			British journal of cancer. 2001 Nov;85(9):1383-6	No germline mutations in CDKN2A (p16) in patients with squamous cell cancer of the head and neck and second primary tumours.		600160	15714	2	2001	We conclude that  CDKN2A mutations do not play a major role in cancer susceptibility in this group.	Cohort 40 patients who had developed a scond primary cancer ageter a SCCHN 										
138674		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	9	9p21	CDKN2A	21957750	21965038		Zheng, Y.  et al. 2002	12101111				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Cancer epidemiology, biomarkers & prevention. 2002 Jul;11(7):640-5	Haplotypes of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-controlstudy.		600160	15715	2	2002	We conclude that  these polymorphic p16 genotypes or haplotypes may not play a major role in the etiology of SCCHN, if any. However, our limited sample size and power call for larger studies for additional verification of our findings.	Case:208 patients with squamous cell carcinoma of the head and neck;Control:224 cancer-free control subjects										
138675		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Masback, A.  et al. 2002	12459644				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Sweden	CDC GDPinfo	1029	Hs.512599			Melanoma research. 2002 Dec;12(6):549-57	Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families.		600160	15716	2	2002	To our knowledge this is the first description of the histopathological features of CMMs from families with mutations in the gene.	Case:26 primary cutaneous malignant melanoma cases belonging to 9 families (n=26);Control:78/667 cutaneous malignant melanoma matched controls (n=78) and a population-based series of CMMs (n=:667)										
138676		melanoma	CANCER	CAN	Melanoma|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Hayward, N. K.   2003	12789280				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Oncogene. 2003 May;22(20):3053-62	Genetics of melanoma predisposition.		600160	15718	2	2003	Review article											
138678		pancreatic cancer	CANCER	CAN	Melanoma|Adenocarcinoma|Pancreatic Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Ghiorzo, P.  et al. 2004	14679123				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Annals of oncology. 2004 Jan;15(1):70-8	INK4/ARF germline alterations in pancreatic cancer patients		600160	15720	2	2004	 The presence of a deletion including exon 1B in two PC patients points to the involvement of p14(ARF) in the development of PC and may suggest that the increased risk of PC in MF is caused by impairment of both loci.	Case:49/66 melanoma (n=49) and sporadic pancreatic cancer:(n=66) cases;Control:54:controls										
138679		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Soufir, N.  et al. 2004	14735200				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			British journal of cancer. 2004 Jan;90(2):503-9	Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma		600160	15722	2	2004	This study confirms that INK4a-ARF mutations are infrequent outside stringent familial criteria, and that germline INK4a-ARF deletions are rarely involved in genetic predisposition to melanoma.	Cohort 89 patients suspected of having a genetic predisposition to melanoma 										
138680		melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Neoplasms, Multiple Primary	9	9p21	CDKN2A	21957750	21965038		Berwick, M.  et al. 2004	15075790				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			European journal of cancer prevention. 2004 Feb;13(1):65-70	Estimating the relative risk of developing melanoma in INK4A carriers.		600160	15723	2	2004	These results provide evidence of the utility of the new study design in evaluating the impact of rare but highly penetrant cancer risk factors.	Cohort 65/88 patienets with multiple primary melanomas (n=65) and with single primary melanomas (n=88) 										
138681	N	breast cancer; melanoma	CANCER	CAN	Multiple Myeloma|Melanoma|Breast Neoplasms	9	9p21	CDKN2A	21957750	21965038		Debniak, T.  et al. 2004	15122588				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3	Polish		CDC GDPinfo	1029	Hs.512599			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):558-62	Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer.		600160	15724	2	2004	The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA.	Cohort 16/44/22 familial malignant melanoma cases (n=16), malignant melanoma probands with a cancer family aggregation (n=44) that included at least one breast cancer (group 2) and breast cancer probands with CFA and malignant melanoma (n=22) Poland 										
138682		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	9	9p21	CDKN2A	21957750	21965038		Berg, P.  et al. 2004	15305154				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Melanoma research. 2004 Aug;14(4):251-5	Germline CDKN2A mutations are rare in child and adolescent cutaneous melanoma.		600160	15725	2	2004	Thus, in the large majority of cutaneous melanoma in childhood/adolescence, any underlying genetic alterations have yet to be identified.	Cohort 60 patients with a diagnosis of cutaneous malignant melanoma before the age of 20 years from the Swedish Cancer Register Sweden 										
138683	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Mantelli, M.  et al. 2004	15577313				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Italy	CDC GDPinfo	1029	Hs.512599			Melanoma research. 2004 Dec;14(6):443-8	Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients		600160	15726	2	2004	Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history.	Cohort 238 of 682 hospital-based Ligurian melanoma patients (34 familial, 14 non-familial multiple primary and 190 non-familial single primary melanomas) consecutively enrolled Liguria 										
138684	Y	melanoma	CANCER	CAN	Melanoma|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Debniak, T.  et al. 2005	15705881				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Cancer research. 2005 Feb;65(3):835-9	CDKN2A common variants and their association with melanoma risk: a population-based study.		600160	15727	2	2005	In conclusion, the A148T variant of the CDKN2A gene seems to be associated with an increased risk of development of MM. Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies.	Control:1,210 random control subjects from the same Polish:population;Case:471 Polish patients with malignant melanoma:Poland										
138685		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Debniak, T.  et al. 2005	15879498				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Journal of medical genetics. 2005 Oct;42(10):763-5	A Common Variant of CDKN2A (p16) Predisposes to Breast Cancer		600160	15729	2	2005	 CDKN2A appears to be a low penetrance breast cancer susceptibility gene in Poland. The association should be confirmed in other populations.	Control:3,000 controls (2000 newborns and 1000 unaffected adults);Case:4,209 cases of breast cancer, unselected for family history from 18 different hospitals:Poland										
138686		lung cancer; smoking behavior	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	9	9p21	CDKN2A	21957750	21965038		Kraunz, K. S.  et al. 2005	16184554				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			International journal of cancer. Journal international du cancer. 2006 Mar;118(6):1364-9	Homozygous deletion of p16(INK4a) and tobacco carcinogen exposure in nonsmall cell lung cancer.		600160	15731	2	2005												
138687		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Casula, M.  et al. 2004	14722037				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Italy	CDC GDPinfo	1029	Hs.512599			Journal of clinical oncology. 2004 Jan;22(2):286-92	BRAF Gene Is Somatically Mutated but Does Not Make a Major Contribution to Malignant Melanoma Susceptibility: The Italian Melanoma IntergroupStudy		600160	20765	2	2004	 utation analysis of either blood DNA from a large collection of MM patients or matched MM tissues from a subset of such patients revealed that BRAF is somatically mutated and does not play a major role in melanoma susceptibility. The present study further suggests that patient origin may account for different mutation rates in candidate genes.	Cohort 358 consecutively collected patient samples southern Italy Cohort 569 malignant melanoma patinets northern and southern Italy 										
138688		uveal melanoma	CANCER	CAN	Melanoma|Uveal Neoplasms	9	9p21	CDKN2A	21957750	21965038		Hearle, N.  et al. 2003	12556369				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Investigative ophthalmology & visual science. 2003 Feb;44(2):458-62	Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma.		600160	20766	2	2003	 These findings suggest that less than 2% of cases of uveal melanoma can be ascribed to germline mutations in BRCA2, P16(INK4A), P14(ARF), or P15. It is likely that mutations in other genes contribute to an inherited predisposition to uveal melanoma.	Cohort 385 patients with uveal melanoma 										
138689		esophageal cancer; stomach cancer; Barret's esophagus	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Barrett Esophagus	9	9p21	CDKN2A	21957750	21965038		Geddert, H.  et al. 2005	16163549				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Journal of cancer research and clinical oncology. 2005 Dec;131(12):803-8	Polymorphism of p16 ( INK4A ) and cyclin D1 in adenocarcinomas of the upper gastrointestinal tract.		600160	20767	2	2005												
138690	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Neoplasms, Multiple Primary	9	9p21	CDKN2A	21957750	21965038		Puig, S.  et al. 2005	15860862				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Journal of clinical oncology. 2005 May;23(13):3043-51	Role of the CDKN2A locus in patients with multiple primary melanomas.		600160	20768	2	2005	 MPM patients are good candidates for CDKN2A mutational screening. These patients and some of their siblings should be included in a program of specific follow-up with total body photography and digital dermoscopy, which will result in the early detection of melanoma in this subset of high-risk patients and improve phenotypic characterization.	Case:104 multiple primary melanoma patients										
138691	N	melanoma, sporadic primary	CANCER	CAN	Melanoma	9	9p21	CDKN2A	21957750	21965038		Kumar, R.  et al. 2001	11668523				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			International journal of cancer. Journal international du cancer. 2001 Nov;95(6):388-93	A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.		600160	20769	2	2001	The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls.	Case:229 melanoma cases;Control:235 controls not otherhwise specified in abstract										
138693		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Lai, K. C.  et al. 2005	16289646				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Taiwan	CDC GDPinfo	1029	Hs.512599			European journal of surgical oncology. 2005 Dec;31(10):1135-40	Association of genetic polymorphisms of MK, IL-4, p16, p21, p53 genes and human gastric cancer in Taiwan.		600160	20771	2	2005	 Genetic susceptibility testing is a tool to evaluate the association of genetic polymorphisms with gastric cancer carcinogenesis.		alcohol									
138694		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Starinsky, S.  et al. 2004	15523694				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Israel	CDC GDPinfo	1029	Hs.512599			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		600160	24131	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
138695		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	9	9p21	CDKN2A	21957750	21965038		Malats, N.   2001	12120227				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		600160	24132	2	2001	Review article		alcohol smoking (tobacco)									
138696		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Sadetzki, S.  et al. 2005	15824172				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3		Israel	CDC GDPinfo	1029	Hs.512599			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		600160	24133	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
138697	Y	cholesterol; cholesterol, LDL	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q34.3	CEL	134927185	134937068		Bengtsson-Ellmark, S. H.  et al. 2004	15114370				Carboxyl ester lipase (bile salt-stimulated lipase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001807.2			CDC GDPinfo	1056	Hs.533258			European journal of human genetics. 2004 Aug;12(8):627-32	Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile.		114840	9362	2	2004	This gives support to the notion that CEL may be involved in determining the plasma lipid composition.	Cohort individuals 										
138698	Y	alcoholism; pancreatitis; pancreatitis, alcoholic	CHEMDEPENDENCY	CHEM	Pancreatitis|Pancreatitis, Alcoholic|Hyperlipidemias|Genetic Predisposition to Disease	9	9q34.3	CEL	134927185	134937068		Miyasaka, K.  et al. 2005	15841033				Carboxyl ester lipase (bile salt-stimulated lipase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001807.2			CDC GDPinfo	1056	Hs.533258			Pancreas. 2005 May;30(4):e87-91	Carboxylester lipase gene polymorphism as a risk of alcohol-induced pancreatitis.		114840	9363	2	2005	 The CEL gene polymorphism, especially an increase in the frequency of the L allele, was found to be associated with alcohol-induced pancreatitis.	Case:100/52/50/96 patients with alcoholic pancreatitis (n = 100), in alcoholics without pancreatitis (n = 52), in patients with nonalcoholic pancreatitis (n = 50), in hyperlipidemia patients (n = 96);Control:435:controls										
138700	Y	pinealoma	OTHER	OTH	Pinealoma|Brain Neoplasms|Choroideremia|	X	Xq21.2	CHM	85002840	85189222		Hotta Y et al. 1997	9349950				Choroideremia (Rab escort protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000390.2			KGB	1121	Hs.496449			Graefes Arch Clin Exp Ophthalmol. 1997 Oct;235(10):653-5	A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.		300390	6878	1	1997	 The hemizygous mutation was detected in a patient and the heterozygous pattern in his mother, the carrier, suggesting that this mutation caused the disease.											
138701	Y	asthma and atopy	IMMUNE	IMM	Asthma|Hypersensitivity	1	1q41-q44	CHRM3	237616487	238139340	0.013	Donfack J 2003	12642833				Cholinergic receptor, muscarinic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000740.2			KEW	1131	Hs.7138			The Journal of allergy and clinical immunology. 2003 Mar;111(3):527-32			118494	6885	1	2003	 These results suggest a possible role for this gene in atopic disorders.	Case:76; Control:81										
138702	N	asthma	IMMUNE	IMM	Asthma	1	1q41-q44	CHRM3	237616487	238139340		Yamamoto, T.  et al. 2002	12381439				Cholinergic receptor, muscarinic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000740.2			CDC GDPinfo	1131	Hs.7138			Ann Genet. 2002 Jul-Sep;45(3):109-13	Mutation screening of the muscarinic m2 and m3 receptor genes in asthmatics, outgrow subjects, and normal controls.		118494	20798	2	2002	Our data suggest that both the m2 and m3 receptor genes are highly conserved, and no significant genetic mutations are related to their possible functional changes in human asthma.	Case:102/58 current asthmatics (n=102) and patients who outgrew:asthma (n=58);Control:70 random non-asthmatic controls										
138704		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Chromosome Deletion	15		CHRNA7	30110017	30248527		Liou YJ et al. 2001	11455129				cholinergic receptor, nicotinic, alpha 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746			KGB	1139	Hs.511772			Dementia and geriatric cognitive disorders. 2001 Sep-Oct;12(5):301-4	Association analysis of the partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant and Alzheimer's disease.		118511	1261	1	2001												
138705	Y	schizophrenia	PSYCH	PSY	Auditory Perceptual Disorders|Schizophrenia	15	15q14	CHRNA7	30110017	30248527	P<.001	Leonard S et al. 2002	12470124		Functional analysis of polymorphisms indicated that transcription was reduced	5'promoter	Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3	NIMH Schizophrenia Genetics Initiative Denver Schizophrenia Center		kgb	1139	Hs.511772	auditory sensing processing p50 deficit		Archives of general psychiatry. 2002 Dec;59(12):1085-96	Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia.		118511	6924	1	2002	 Although linkage disequilibrium with other genetic alterations cannot be excluded, the CHRNA7 core promoter variants, found in this study, may contribute to a common pathophysiologic feature of schizophrenia.	Control:165:controls;Case:166 schizophrenic families										
138706	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	15	15q14	CHRNA7	30110017	30248527	n	Kent L et al. 2001	11803515				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			KGB	1139	Hs.511772			American journal of medical genetics. 2001 Dec;105(8):686-9	No association between CHRNA7 microsatellite markers and attention-deficit hyperactivity disorder.		118511	6925	1	2001												
138707	N	schizophrenia	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Lai IC et al. 2001	11150893				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			KGB	1139	Hs.511772			Neuropsychobiology. 2001 Jan;43(1):15-8	Association study of a nicotinic receptor variant with schizophrenic disorders.		118511	6926	1	2001	The results showed no significant difference in genotype or allele frequencies between schizophrenic patients and control subjects. This suggests that alpha(7) nAChR 2-bp deletion plays no major role in the pathogenesis of schizophrenic disorders. Other nAChR variants in schizophrenic disorders may need further investigation.	Case:146 patients with schizophrenic disorders;Control:151:controls										
138708		schizophrenia	PSYCH	PSY	Sensation Disorders|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Houy, E.  et al. 2003	14569275	promoter -194 C		promoter	Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Molecular psychiatry. 2004 Mar;9(3):320-2	The promoter -194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit.		118511	9399	2	2003	Such conflicting results can be reconciled if we consider that the -194 C polymorphism has no causative effect, but is in linkage disequilibrium with other causal variations for the P50 sensory gating deficit, and that different alleles are in disequilibrium in different populations.	Case:111 schizophrenic patients;Control:85 control subjects										
138709		schizophrenia	PSYCH	PSY	Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Gault, J.  et al. 2003	14582144				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Nov;123(1):39-49	Comparison of polymorphisms in the alpha7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects.		118511	9400	2	2003	Although the expression of CHRNA7 is decreased in schizophrenia, the general structure of the remaining receptors is likely to be normal.	Case schizophrenic individuals;Control:controls										
138710	N	schizophrenia	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Lai, I. C.  et al. 2001	11150893				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Neuropsychobiology. 2001 Jan;43(1):15-8	Association study of a nicotinic receptor variant with schizophrenic disorders.		118511	15813	2	2001	The results showed no significant difference in genotype or allele frequencies between schizophrenic patients and control subjects. This suggests that alpha(7) nAChR 2-bp deletion plays no major role in the pathogenesis of schizophrenic disorders. Other nAChR variants in schizophrenic disorders may need further investigation.	Case:146 patients with schizophrenic disorders;Control:151:controls										
138711	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Chromosome Deletion	15	15q14	CHRNA7	30110017	30248527		Liou, Y. J.  et al. 2001	11455129				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Dementia and geriatric cognitive disorders. 2001 Sep-Oct;12(5):301-4	Association analysis of the partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant and Alzheimer's disease.		118511	15814	2	2001	This negative finding suggests that the partially duplicated alpha7 nAChR genetic polymorphism contributes no major effect to the development of AD. However, we suggest that the other genetic variation of the alpha7 nAChR gene, related to AD or the associated symptomatology, merits further investigation.	Case:120 patients with Alzheimer's disease;Control:98 normal controls										
138712		depressive disorder, major	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Depressive Disorder, Major	15	15q14	CHRNA7	30110017	30248527		Lai, I.  et al. 2001	11532536				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3		Taiwan	CDC GDPinfo	1139	Hs.511772			Journal of affective disorders. 2001 Sep;66(1):79-82	Association study of nicotinic-receptor variants and major depressive disorder.		118511	15815	2	2001	 The -2 bp allele of partially duplicated alpha7 nAChR may have an influence on the risk for development of major depressive disorder. The levels of significance achieved are modest and the findings must be replicated in other studies.	Control:103 normal controls;Case:72 patients with major depressive disorder										
138713	Y	schizophrenia	PSYCH	PSY	Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Xu, J.  et al. 2001	11803513				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			American journal of medical genetics. 2001 Dec;105(8):669-74	Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean families.		118511	15816	2	2001	Overall, our results suggest that the CHRNA7 may play a role in schizophrenia in these families. A parent of origin effect may be present and requires further study.	Cohort 31 Azorean schizophrenia families/trios (including 41 schizophrenia individuals and 97 unaffected families members) 										
138714	Y	schizophrenia	PSYCH	PSY	Auditory Perceptual Disorders|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Leonard, S.  et al. 2002	12470124			promoter	Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Archives of general psychiatry. 2002 Dec;59(12):1085-96	Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia.		118511	15817	2	2002	 Although linkage disequilibrium with other genetic alterations cannot be excluded, the CHRNA7 core promoter variants, found in this study, may contribute to a common pathophysiologic feature of schizophrenia.	Control:165:controls;Case:166 schizophrenic families										
138715		bipolar disorder	PSYCH	PSY	Tobacco Use Disorder|Genetic Predisposition to Disease|Bipolar Disorder	15	15q14	CHRNA7	30110017	30248527		Hong, C. J.  et al. 2004	14729237				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Neuroscience letters. 2004 Jan;355(2-Jan):69-72	Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder		118511	15818	2	2004	The results of this study suggest that the -2 bp polymorphism or a nearby polymorphism may play a role in the pathogenesis of BPD. Determination of the functional impact of the -2 bp variant in the nervous system and, in particular, the effect of harboring more than two alleles of the -2 bp deletion needs further exploration.	Control:135 normal controls;Case:77 patients with bipolar disorder										
138716		schizophrenia; smoking behavior	PSYCH	PSY	Schizophrenia	15	15q14	CHRNA7	30110017	30248527		De Luca, V.  et al. 2004	15100704				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Neuropsychopharmacology. 2004 Aug;29(8):1522-6	Evidence of association between smoking and alpha7 nicotinic receptor subunit gene in schizophrenia patients.		118511	15819	2	2004	Although this novel finding requires replication, it suggests that further study into the relationship between schizophrenia and nicotine system genes is warranted.	Cohort 										
138717	N	schizophrenia	PSYCH	PSY	Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Li, C. H.  et al. 2004	15531077			promoter	Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Neuroscience letters. 2004 Nov;372(2-Jan):5-Jan	Identification of molecular variants at the promoter region of the human alpha 7 neuronal nicotinic acetylcholine receptor subunit gene but lack of association with schizophrenia.		118511	15820	2	2004	Hence, in this study, we did not find mutations in the human alpha7 neuronal nicotinic receptor subunit gene that are associated with schizophrenia in our population.	Case:249 unrelated Han Chinese schizophrenic patients:Taiwan;Control:273 non-psychotic subjects										
138718		smoking behavior	CHEMDEPENDENCY	CHEM		15	15q14	CHRNA7	30110017	30248527			16314871				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			Molecular psychiatry. 2005	Why do young women smoke? I. Direct and interactive effects of environment, psychological characteristics and nicotinic cholinergic receptor genes		118511	15822	2	2005												
138719		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	15	15q14	CHRNA7	30110017	30248527		Kawamata, J.  et al. 2002	12214130				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDPinfo	1139	Hs.511772			J Alzheimers Dis    2002    4    71-6	Association of novel and established polymorphisms in neuronal nicotinic acetylcholine receptors with sporadic Alzheimer's disease.		118511	24146	2	2002	These findings suggested that genetic polymorphisms of the neuronal nAChR genes might be related to the pathogenesis of sporadic AD.	Case Alzheimer's disease cases;Control:controls										
138721	Y	Human Renal Transplantation	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429	P = 0.014	Abdi R 2002	11856781	CCR2-V64I			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601267	6886	1	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients										
138722	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3p21	CCR2	46370363	46377429	n	Gonzalez P 2001	11477473	V641I			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian (Asturias. northern Spain)		KGB	1231	Hs.644637			Genes and immunity. 2001 Jun;2(4):191-5	Genetic variation at the chemokine receptors CCR5/CCR2 in myocardial infarction		601267	6887	1	2001	Our data suggest that the variation at the CCR5 gene could modulate the age at the onset of MI. Patients carrying the Deltaccr5-allele would be protected against an early episode of MI. CCR5 and the CCR5-ligands are expressed by cells in the arteriosclerotic plaque. Thus, the protective role of Deltaccr5 could be a consequence of an attenuated inflammatory response, that would determine a slower progression of the arteriosclerotic lesion among Deltaccr5-carriers. Our work suggests that the pharmacological blockade of CCR5 could be a valuable therapy in the treatment of MI.	Case:214 male patients with an age at the first MI episode <55 years, 96 patients that suffered the first MI episode when older than 60 years:Asturias, Spain;Control:360 male population controls Asturias Spain										
138723	Y	Bone Mineral Density	METABOLIC	MET		3	3p21	CCR2	46370363	46377429		Yamada Y 2002	12079277	190G-->A (Val64I1e)		coding sequence	CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese		KGB	1231	Hs.644637			Genomics. 2002 Jul;80(1):12-Aug	Association of a polymorphism of the CC chemokine receptor-2 gene with bone mineral density.		601267	6888	1	2002	These results suggest that CCR2 may be a new candidate for a susceptibility locus for bone mass in middle-aged men and postmenopausal women.	Cohort 2215 subjects (1125 men, 1090 women), all of whom were community-dwelling individuals aged 40 to 79 years										
138724	Y	reduced coronary artery calcification	OTHER	OTH	Cardiomyopathies|Calcinosis	3	3p21	CCR2	46370363	46377429		Valdes AM et al. 2002	12426226				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			Arteriosclerosis, thrombosis, and vascular biology. 2002 Nov;22(11):1924-8	Val64Ile polymorphism in the C-C chemokine receptor 2 is associated with reduced coronary artery calcification.		601267	6889	1	2002	 This study provides genetic evidence linking CCR2 with coronary atherosclerosis in humans.	Cohort first-degree relatives of persons with premature coronary artery disease										
138725	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	3	3p21	CCR2	46370363	46377429		Voevoda MI et al. 2002	12469616				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Russia	KGB	1231	Hs.644637			Doklady biological sciences. 2002 Jul-Aug;385:367-70	Association of the CCR2 chemokine receptor gene polymorphism with myocardial infarction.		601267	6890	1	2002	The results of this study show that polymorphism V641 of the CCR2 gene contributes significantly to the formation of hereditary predisposition to acute coronary syndrome. Probably, this association is due to the ability of the receptor CCR2 64I, in contrast to 64V, to form heterodimers with receptor CXCR4 in macrophages or other cells of atherosclerotic plaques, thereby initiating transmission of specific signals in cells stimulated with the CXCR4 SDF ligand. On the other hand, this makes the CXRC4 receptor sensitive to MCP1-4 CCR2 ligands.	Cohort 39/10 male subjects whose anamneses included myocardial infarction and unstable stenocardia, respectively Cohort 52/9 railroadmen in an organized population (52 subjects with myocardial infarction and 9 subjects with unstable stenocardia) Cohort 63										
138727	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Aguilar F 2003	12913933				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Spanish	Spain	KGB	1231	Hs.644637			The Journal of rheumatology. 2003 Aug;30(8):1770-4	Chemokine receptor CCR2/CCR5 polymorphism in Spanish patients with systemic lupus erythematosus.		601267	6892	1	2003	 Polymorphisms of CCR2 and CCR5 do not seem to be involved in susceptibility to SLE, although a slight contribution of the CCR5 polymorphism in the production of anti-dsDNA autoantibodies, in the development of lupus nephritis, and in the outcome of the disease could be postulated.	Control:194 ethnically matched controls;Case:276 patients with systemic lupus erythematosus										
138728		HIV/SIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Puissant B 2003	12879309				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1~~~ CCR2 and CXCR4 genes with regard to HIV/SIV infection.		601267	6893	1	2003												
138729	Y	Lofgren's syndrome	OTHER	OTH	Arthralgia|Sarcoidosis, Pulmonary|Lymphatic Diseases|Erythema Nodosum|Syndrome	3	3p21	CCR2	46370363	46377429		Spagnolo P 2003	12882757				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1162-6	C-C chemokine receptor 2 and sarcoidosis: association with Lofgren's syndrome.		601267	6894	1	2003	In conclusion, this report describes a strong association between CCR2 haplotype 2 and Lofgren's syndrome. Further studies are needed to understand the molecular mechanisms underlying this association.	Control:167:controls;Case:90/47 NON-Lofgren-sarcoidosis (n=90) and Lofgren's:syndrome (n=47) patients										
138730		HIV/SIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Puissant B 2003	12879309				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1~~~ CCR2 and CXCR4 genes with regard to HIV/SIV infection.		601267	6895	1	2003												
138731	Y	HIV-1	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Ioannidis JP 2003	12853745				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			KGB	1231	Hs.644637			AIDS (London, England). 2003 Jul;17(11):1631-8	Effects of CCR5-delta32 and CCR2-64I alleles on disease progression of perinatally HIV-1-infected children: an international meta-analysis.		601267	6896	1	2003	 The CCR5-delta32 and CCR2-64I alleles are associated with a decreased risk of death among perinatally infected children, but only for the first years of life.	Cohort 1317 HIV-1 infected children from 10 studies										
138732	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Teraguchi H 2004	15046042	190G -> A			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese		KGB	1231	Hs.644637			Journal of cardiology. 2004 Feb;43(2):92-3	Prediction of genetic risk for hypertension		601267	6897	1	2004	 These results suggest that two and one genes may be susceptibility loci for hypertension in Japanese men and women, respectively, and that genotyping of these polymorphisms may prove informative for prediction of the genetic risk for hypertension.	Case:1067; Control:873										
138733	N	Endometriosis	REPRODUCTION	REP	Endometriosis	3	3p21	CCR2	46370363	46377429	0.89	Antinolo G 2004	14981141	V64I		coding sequence	CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Spanish		KGB	1231	Hs.644637			Molecular human reproduction. 2004 Mar;10(3):155-7	Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.		601267	6898	1	2004	These data would suggest the lack of association between these polymorphisms and endometriosis in our population, although they do not permit us to discard completely a possible role of other variants within CCR5 and CCR2 genes in this pathology.	Case Spanish women with endometriosis;Control:controls										
138735	N	HIV viral load	INFECTION	INF	HIV Infections|HIV Seropositivity	3	3p21	CCR2	46370363	46377429		Adje, C. A.  et al. 2001	11468722				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Cote d'Ivoire	CDC GDPinfo	1231	Hs.644637			Journal of medical virology. 2001 Aug;64(4):398-401	Lack of effect of chemokine receptor CCR2b gene polymorphism (64I) on HIV-1 plasma RNA viral load and immune activation among HIV-1 seropositive female workers in Abidjan, Cote d'Ivoire		601267	9134	2	2001	The data suggest that the presence of the CCR2b mutation has no effect on HIV-1 plasma viral load and markers of immune activation in our study population. The finding that the frequency of this mutation is similar in HIV-seropositive and -seronegative female workers suggests that its presence is not associated with increased risk of HIV infection.	Cohort 260 female workers (99 HIV-seronegative and 161 HIV-seropositive) Abidjan, Cote d'Ivoire 										
138736	Y	HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429			11898620				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Moscow	CDC GDPinfo	1231	Hs.644637			Genetika. 2002 Feb;38(2):278-80	[Frequencies of the CCR2-64I and SDF1-3'A alleles associated with progression of the HIV-1 disease in healthy individuals from Moscow]		601267	9135	2		This result can be explained by higher proportion of Asian immigrants, characterized by higher frequencies of these mutations, in the population of Moscow.	Cohort individuals from Moscow 										
138737	Y	bone density	METABOLIC	MET		3	3p21	CCR2	46370363	46377429		Yamada, Y.  et al. 2002	12079277				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Genomics. 2002 Jul;80(1):12-Aug	Association of a polymorphism of the CC chemokine receptor-2 gene with bone mineral density.		601267	9136	2	2002	These results suggest that CCR2 may be a new candidate for a susceptibility locus for bone mass in middle-aged men and postmenopausal women.	Cohort 2215 subjects (1125 men, 1090 women), all of whom were community-dwelling individuals aged 40 to 79 years 										
138738	N	HIV infection; hepatitis C infection	INFECTION	INF	Hepatitis C, Chronic|HIV Infections	3	3p21	CCR2	46370363	46377429		Woitas, R. P.  et al. 2002	12215924				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Deutsche medizinische Wochenschrift (1946). 2002 Sep;127(36):1807-12	[Do polymorphisms of the SDF1 and CCR2b genes modify the course of hepatitis C or HIV/HCV co-infection?]		601267	9137	2	2002	 These results suggest that the SDF1 - 3'A and CCR2b-V64I mutations do not affect the course of HCV and HIV/HCV infection in the same manner as does the CCR5-Delta32 mutation.	Control:112 heatlhy blood donors;Case:130/105/153 patients with HIV/HCV coinfection (n = 130), HIV infection (n = 105), HCV infection (n = 153)										
138739		renal transplant outcome	RENAL	REN	Acute Disease	3	3p21	CCR2	46370363	46377429		Kruger, B.  et al. 2002	12239249				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of the American Society of Nephrology. 2002 Oct;13(10):2585-9	A Monocyte chemoattractant protein-1 (MCP-1) polymorphism and outcome after renal transplantation.		601267	9138	2	2002	This variant of MCP-1 may be a future predictor for long-term kidney graft failure.	Cohort 232 patients who underwent transplantation over an 11-yr period 										
138740	Y	coronary calcification	OTHER	OTH	Cardiomyopathies|Calcinosis	3	3p21	CCR2	46370363	46377429		Valdes, A. M.  et al. 2002	12426226				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Arteriosclerosis, thrombosis, and vascular biology. 2002 Nov;22(11):1924-8	Val64Ile polymorphism in the C-C chemokine receptor 2 is associated with reduced coronary artery calcification.		601267	9139	2	2002	 This study provides genetic evidence linking CCR2 with coronary atherosclerosis in humans.	Cohort first-degree relatives of persons with premature coronary artery disease 										
138741		HIV; HIV disease progression	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Lewandowska, M.  et al. 2002	12436194				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Polish	Poland	CDC GDPinfo	1231	Hs.644637			Journal of human genetics. 2002 ;47(11):585-9	Distribution of two HIV-1-resistant polymorphisms (SDF1-3'A and CCR2-64I alleles) in the Polish population		601267	9140	2	2002	The different pattern of prevalence of the SDF1-3'A and CCR2-64I alleles in Poland might suggest that the CCR2-64I allele was spread much earlier than the SDF1-3'A allele in the population of Poland.	Cohort blood donors from 16 provinces, covering the entire territory of Poland Poland 										
138742	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	3	3p21	CCR2	46370363	46377429		Voevoda, M. I.  et al. 2002	12469616				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Russia	CDC GDPinfo	1231	Hs.644637			Doklady biological sciences. 2002 Jul-Aug;385:367-70	Association of the CCR2 chemokine receptor gene polymorphism with myocardial infarction.		601267	9141	2	2002	The results of this study show that polymorphism V641 of the CCR2 gene contributes significantly to the formation of hereditary predisposition to acute coronary syndrome. Probably, this association is due to the ability of the receptor CCR2 64I, in contrast to 64V, to form heterodimers with receptor CXCR4 in macrophages or other cells of atherosclerotic plaques, thereby initiating transmission of specific signals in cells stimulated with the CXCR4 SDF ligand. On the other hand, this makes the CXRC4 receptor sensitive to MCP1-4 CCR2 ligands.	Cohort 39/10 male subjects whose anamneses included myocardial infarction and unstable stenocardia, respectively Cohort 52/9 railroadmen in an organized population (52 subjects with myocardial infarction and 9 subjects with unstable stenocardia) Cohort 63 residents of one of Novosibirsk city districts (37 male subjects with definite myocardial infarction and 26 subjects with uncertain diagnosis ) Cohort 69/3 individuals from an unorganized population of male patients (69 with myocardial infaction and 3 subjects with unstable stenocardia) 										
138743		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Petrkova, J.  et al. 2003	12853162				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Czech	Czech Republic	CDC GDPinfo	1231	Hs.644637			Immunology letters. 2003 Jul;88(1):53-5	CC chemokine receptor (CCR)2 polymorphism in Czech patients with myocardial infarction.		601267	9142	2	2003	If the VI genotype of the CCR2-V64I is indeed a risk factor for an earlier MI onset in females must be checked by independent studies in other centres and/or populations.	Case:122 myocardial infarct Czech patients;Control:277 unrelated control subjects										
138745	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	3	3p21	CCR2	46370363	46377429		Miyagishi, R.  et al. 2003	14644039				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese	Japan	CDC GDPinfo	1231	Hs.644637			Journal of neuroimmunology. 2003 Dec;145(2-Jan):135-8	C-C chemokine receptor 2 gene polymorphism in Japanese patients with multiple sclerosis.		601267	9144	2	2003	There were no significant associations between CCR2 polymorphism and the clinical features of MS. Our results indicate that the presence of CCR2-64I allele seems to provide protection against the development of MS.	Control:112 healthy controls;Case:122 multiple sclerosis patients:Japan										
138746	N	HIV	INFECTION	INF	HIV Infections|Cognition Disorders	3	3p21	CCR2	46370363	46377429		Singh, K. K.  et al. 2004	15579296				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of neuroimmunology. 2004 Dec;157(2-Jan):185-92	CCR2 polymorphisms affect neuropsychological impairment in HIV-1-infected adults.		601267	9146	2	2004	CCR2-V64I was not associated with plasma or CSF HIV-1 RNA load, suggesting that the impact of CCR2 on neuropathogenesis may involve alterations in inflammatory responses within the CNS rather than a direct impact on viral entry or replication.	Cohort 121 HIV-1 patients 										
138747	Y	cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Disease Progression	3	3p21	CCR2	46370363	46377429		Coelho, A.  et al. 2005	15721423	CCR2-64I			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Gynecologic oncology. 2005 Mar;96(3):760-4	Protective role of the polymorphism CCR2-64I in the progression from squamous intraepithelial lesions to invasive cervical carcinoma.		601267	9147	2	2005	 These findings suggest that CCR2-64I polymorphism might have a protective role in the evolution from high-grade SIL to ICC.	Cohort 109/217 patients with squamous intraepithelial lesions (n=109, 28 low-grade and 81 high-grade cases) and patients with invasive cervical cancer (n=217) 										
138748	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Valentonyte, R.  et al. 2005	15750046				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Germany	CDC GDPinfo	1231	Hs.644637			American journal of respiratory and critical care medicine. 2005 May;171(10):1136-41	Study of C-C chemokine receptor 2 alleles in sarcoidosis, with emphasis on family-based analysis.		601267	9148	2	2005	Case-control comparisons and family-based genetic analyses did not support previous findings of an association between CCR2 gene variability and the risk of sarcoidosis. However, they confirmed linkage disequilibrium and showed positive linkage results (p = 0.034) and therefore suggest a susceptibility gene in the surrounding chromosomal region.	Control:controls;Case:1,203 sarcoidosis patients										
138750		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ma, L.  et al. 2005	16123688	CCR2-64I			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Cameroon	CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2005 Sep;40(1):89-95	Distribution of CCR2-64I and SDF1-3'A alleles and HIV status in 7 ethnic populations of Cameroon.		601267	9150	2	2005												
138751		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Passam, A. M.  et al. 2005	16286054	CCR2-64I			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of clinical virology. 2005 Dec;34(4):302-9	CCR2-64I and CXCL12 3'A alleles confer a favorable prognosis to AIDS patients undergoing HAART therapy.		601267	9151	2	2005	 Our results suggest that patients carrying either CCR2-64I or CXCL12 3'A have a more favorable prognosis during HAART treatment.		antiretroviral									
138752		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Vicenzi, E.  et al. 2000	11023492				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2000 Nov;182(5):1579-80	CCR2-64I polymorphism, syncytium-inducing human immunodeficiency virus strains, and disease progression.		601267	9155	2	2000	No correlation was found between SDF-1 genotype and viral phenotype	Case:191/40 HIV infected subjects randomly selected from the San Francisco Men's Health Study (n=191) and men from the Milan cohort (n=40)								N		
138753		asthma; HIV disease progression	IMMUNE	IMM	HIV Infections	3	3p21	CCR2	46370363	46377429		Su, B.  et al. 2000	11175286	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			European journal of human genetics. 2000 Dec;8(12):975-9	Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations.		601267	9158	2	2000	From these data, we estimated the risk of AIDS onset (relative hazard, RH) of each population. This survey shows that the substantial allele frequency differences of each of these mutations translate into an extensive variation in relative hazards for AIDS in worldwide populations. However, no evidence of natural selection against the mutant gene carriers is detected.	Cohort 2341 individuals without any known history of HIV-1 infection and AIDS symptoms from 70 worldwide populations 										
138755		diabetes, type 1; renal transplant outcome	IMMUNE	IMM		3	3p21	CCR2	46370363	46377429		Iyer, R. K.  et al. 2001	11385319	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Diagnostic molecular pathology. 2001 Jun;10(2):105-10	A multiethnic study of Delta32ccr5 and ccr2b-V64I allele distribution in four Los Angeles populations.		601267	9161	2	2001	The observed population differences in Delta32ccr5 and ccr2b-V64I frequencies, considered together with their documented effects on sensitivity to HIV infection and rate of disease progression, have implications for HIV transmission patterns in the United States, as well as for AIDS prediction, monitoring, and treatment.	Cohort 472 individuals of a multiethnic cohort Four Los Angeles Populations 										
138756		HIV infection	INFECTION	INF	HIV Infections|HIV Seropositivity|Hemophilia A|Disease Progression	3	3p21	CCR2	46370363	46377429		Kageyama, S.  et al. 2001	11485615				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese	Japan	CDC GDPinfo	1231	Hs.644637			AIDS research and human retroviruses. 2001 Jul;17(11):991-5	Polymorphism of CCR5 affecting HIV disease progression in the Japanese population		601267	9162	2	2001	Thus we found that a CCR5 SNP and haplotype polymorphism affect HIV disease progression even in the Japanese population. This indicates that the CCR5 genetic polymorphism affecting disease progression should be studied in a wider range of population.	Cohort 98 Japanese HIV-positive individuals Japan 										
138758	Y	HIV infection	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR2	46370363	46377429		Ioannidis, J. P.  et al. 2001	11694103	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Annals of internal medicine. 2001 Nov;135(9):782-95	Effects of CCR5-Delta32, CCR2-64I, and SDF-1 3'A Alleles on HIV-1 Disease Progression: AnInternational Meta-Analysis of Individual-Patient Data		601267	9166	2	2001	 The CCR5-Delta32 and CCR2-64I alleles had a strong protective effect on progression of HIV-1 infection, but SDF-1 3'A homozygosity carried no such protection.	Studies 19 prospective cohort studies and case-control studies United States, Europe, and Australia 										
138759		HIV	INFECTION	INF		3	3p21	CCR2	46370363	46377429		Mangano, A.  et al. 2001	11696224	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Indian		CDC GDPinfo	1231	Hs.644637			Tissue antigens. 2001 Aug;58(2):99-102	Distribution of CCR5-Delta32 and CCR2-64I alleles in an Argentine Amerindian population		601267	9167	2	2001	In conclusion, the protective deletion CCR5-Delta32 is practically absent in Chiriguanos whereas the CCR2-64I allele is highly frequent.	Cohort 42 Chiriguanos individuals that are aboriginal inhabitants of the north west of Argentina Argentiona 										
138760		HIV; myocardial infarction	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Wang, F.  et al. 2001	11729511	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese	China	CDC GDPinfo	1231	Hs.644637			Chinese medical journal. 2001 Nov;114(11):1162-6	Genotypes and polymorphisms of mutant CCR5-delta 32, CCR2-64I and SDF1-3' a HIV-1 resistance alleles in indigenous Han Chinese		601267	9168	2	2001	 The CCR5-delta 32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese. The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791) in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.	Cohort 1251 subjects (915 men and 336 women) aged 15-80 years(none HIV-1 positive) 										
138761	Y	kidney transplant rejection	RENAL	REN	Acute Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Abdi, R.  et al. 2002	11856781				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of the American Society of Nephrology. 2002 Mar;13(3):754-8	Chemokine receptor polymorphism and risk of acute rejection in human renal transplantation.		601267	9170	2	2002	It was concluded that the risk of acute rejection in renal transplantation is associated with genetic variation in the chemokine receptors CCR2 and CCR5.	Cohort 163 renal transplant recipients 										
138762		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR	HIV Infections	3	3p21	CCR2	46370363	46377429		Wang, F.  et al. 2000	11860793	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese	China	CDC GDPinfo	1231	Hs.644637			Zhonghua liu xing bing xue za zhi. 2000 Aug;21(4):256-60	[Distribution of HIV resistance CCR5-delta 32, CCR2-64 I and SDF1-3'A alleles and their polymorphisms in the Han population in China]		601267	9171	2	2000	 Our data was the first findings on the frequency and polymorphism of CCR5(Delta)32, CCR2-64I and SDF1-3'A alleles in indigenous Han population in China which implied that the indigenous Han people might have a higher genetic susceptibility to the infection of sexually transmitted HIV-1 (R-5) strain. Further study is needed to clarify the significance of higher frequency of CCR2-64I and SDF1-3'A alleles in Han population.	Cohort 1267 subjects, of which consisted 98.7% (1 251/1 267) Han people 										
138763		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Du, Q.  et al. 2000	11860823				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian	China	CDC GDPinfo	1231	Hs.644637			Zhonghua liu xing bing xue za zhi. 2000 Dec;21(6):413-6	[Polymorphisms of chemokine receptor alleles influencing genetic susceptibility to HIV-1 infection in Mongolia population in China]		601267	9172	2	2000	 Compared with the Caucasian American, there were higher frequencies of CCR2b-64I and SDF1-3'A alleles and lower frequency of CCR5-Delta32 allele found in Mongolian population while the factors responsible for the variation of genetic polymorphisms in different ethnic populations need to be clarified.	Cohort 134 Mongolian subjects 										
138764		HIV infection	INFECTION	INF	Hepatitis, Viral, Human|Flaviviridae Infections|HIV Infections|Viremia	3	3p21	CCR2	46370363	46377429		Tillmann, H. L.  et al. 2002	11964548				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			AIDS (London, England). 2002 Mar;16(5):808-9	Chemokine receptor polymorphisms and GB virus C status in HIV-positive patients.		601267	9173	2	2002	On the basis of our findings we can exclude the possibility that either the chemokine receptor polymorphisms or the SDF-1 polymorphism explain the beneficial outcome of GBV-C infected patients with HIV infection	Cohort 288 HIV-positive patients typed for CCR-5 and SDF-1 Cohort 293 HIV-positive patients typed for CCR-2 	GB virus C									
138765		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ramana, G. V.  et al. 2001	11988632	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		India	CDC GDPinfo	1231	Hs.644637			Journal of genetics. 2001 Dec;80(3):137-40	Distribution of HIV-1 resistance-conferring polymorphic alleles SDF-1-3'A, CCR2-64I and CCR5-Delta32 in diverse populations of Andhra Pradesh, South India.		601267	9174	2	2001	The mean number of mutant alleles (for the three loci together) carried by each individual varies from 0.475 (in Vizag Brahmins) to 0.959 (in Bohra Muslims). The estimated relative hazard values for the populations, computed from the three-locus genotype data, are comparable to those from Africa and Southeast Asia, where AIDS is known to be widespread.	Cohort 525 healthy individuals without any history of HIV-1 infection from 11 diverse populations Andhra Pradesh, South India 										
138766		human T lymphotropic virus type I infection	INFECTION	INF	HTLV-I Infections	3	3p21	CCR2	46370363	46377429		Hisada, M.  et al. 2002	12001056				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Jamaica	CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2002 May;185(9):1351-4	Chemokine receptor gene polymorphisms and risk of human T lymphotropic virus type I infection in Jamaica.		601267	9175	2	2002	These findings suggest that CCR2-64I, or alleles in linkage disequilibrium with it, may affect the risk of HTLV-I infection in a recessive manner.	Case:116 HTLV-I positive persons of African descent:Jamaica;Control:126 HTLV-I negative persons of African descent	human T lymphotropic virus									
138767		HIV infection	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Roman, F.  et al. 2002	12032878				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian	Germany	CDC GDPinfo	1231	Hs.644637			HIV clinical trials. 2002 May-Jun;3(3):195-201	Prevalence of HIV co-receptor polymorphisms in HIV-infected patients and uninfected volunteers in Luxembourg.		601267	9176	2	2002	 Overall, allele frequencies were comparable to frequencies reported in previous studies in Caucasian populations.	Control:158 uninfected, healthy volunteers;Case:288 HIV-1-infected patients:Luxembourg										
138768	N	liver transplantation, immunosuppression after	IMMUNE	IMM		3	3p21	CCR2	46370363	46377429		Schroppel, B.  et al. 2002	12201365				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			American journal of transplantation. 2002 Aug;2(7):640-5	The impact of polymorphisms in chemokine and chemokine receptors on outcomes in liver transplantation.		601267	9178	2	2002	In conclusion, CCR2-641, CCR5delta32, and SDF1-3'A genotypes did not influence the risk for acute rejection or graft survival. However, in liver allograft recipients SDF1-3'A is significantly associated with higher mortality.	Cohort 207 liver transplant recipients 										
138769		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Wit, F. W.  et al. 2002	12447757	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2002 Dec;186(12):1726-32	CC chemokine receptor 5 delta32 and CC chemokine receptor 2 64I polymorphisms do not influence the virologic and immunologic response to antiretroviral combination therapy in human immunodeficiency virus type 1-infected patients.		601267	9180	2	2002	There were no major differences between subjects with and without polymorphisms in the CCR5 and/or CCR2 genes with respect to the rate of initial viral clearance, proportion of subjects with plasma HIV-1 RNA levels below the lower limit of quantification, rate of virologic treatment failure, immunologic responses, and disease progression during 96 weeks of follow-up.	Cohort 130 HIV-1 infected patients 										
138770		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression	3	3p21	CCR2	46370363	46377429		Mulherin, S. A.  et al. 2003	12556692	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			AIDS (London, England). 2003 Feb;17(3):377-87	Effects of CCR5-Delta32 and CCR2-64I alleles on HIV-1 disease progression: the protection varieswith duration of infection.		601267	9182	2	2003	 The protection against AIDS provided by CCR5-Delta32 is continuous during the course of infection. In contrast, the protection provided by CCR2-64I is greatest early in the course of infection.	Cohort 1635/215 HIV-1 seroconverters of European (n = 1635) or African (n = 215) ancestry 										
138771		HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous	3	3p21	CCR2	46370363	46377429		Wang, F. S.  et al. 2003	12571520				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese	China	CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2003 Feb;32(2):124-30	Population survey of CCR5 delta32, CCR5 m303, CCR2b 64I, and SDF1 3'A allele frequencies in indigenous Chinese healthy individuals, and in HIV-1-infected and HIV-1-uninfected individuals in HIV-1 risk groups.		601267	9184	2	2003	Our finding is the first reporting that there is likely no effect of the examined polymorphisms in our study on HIV-1 transmission in the Chinese Han population, However, the genetic effects of these and other AIDS-modifying polymorphisms on the pathogenesis and clinical outcome of HIV-1/AIDS diseases is under investigation in Chinese populations.	Cohort 3165 indigenous healthy subjects representing eight ;Case:330 HIV-1 infected (86 subjects infected by sexual transmission and 198 subjects infected by HIV-1-contaminated blood or by sharing injection equipment; the remaining 46 subjects said nothing about HIV-1 transmission);Control:474 HIV-1-uninfected Han Chinese belonging to one of										
138772		hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR2	46370363	46377429		Mettimano, M.  et al. 2003	12680626				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			British journal of biomedical science. 2003 ;60(1):19-21	CCR5 and CCR2 gene polymorphisms in hypertensive patients.		601267	9186	2	2003	To date, a role for the immune system in hypertension has not been clarified, nor has the predictive value of CCR polymorphisms.	Case:120 essential hypertensive patients;Control:340 healthy Caucasian subjects										
138773	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Ioannidis, J. P.  et al. 2003	12853745	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			AIDS (London, England). 2003 Jul;17(11):1631-8	Effects of CCR5-delta32 and CCR2-64I alleles on disease progression of perinatally HIV-1-infected children: an international meta-analysis.		601267	9187	2	2003	 The CCR5-delta32 and CCR2-64I alleles are associated with a decreased risk of death among perinatally infected children, but only for the first years of life.	Cohort 1317 HIV-1 infected children from 10 studies 										
138775		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Munerato, P.  et al. 2003	14533983				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Brazil	CDC GDPinfo	1231	Hs.644637			The Brazilian journal of infectious diseases. 2003 Aug;7(4):236-40	Frequency of polymorphisms of genes coding for HIV-1 co-receptors CCR5 and CCR2 in a Brazilian population.		601267	9189	2	2003	The prevalence of CCR2-64I homozygotes and heterozygotes was 0.06 and 15.2%, respectively, also similar to what is known for North America and Western Europe.	Cohort individuals from the Brazilian population 										
138776		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Singh, K. K.  et al. 2004	15076247				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		United States	CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2004 Mar;35(3):309-13	Prevalence of Chemokine and Chemokine Receptor Polymorphisms in Seroprevalent Children With Symptomatic HIV-1 Infection in the United States		601267	9192	2	2004	These analyses show that the distribution of chemokine receptor and chemokine genetic polymorphisms varies significantly across race/ethnicity subgroups of HIV-1-infected children in the United States.	Cohort 1,057 children with symptomatic HIV-1 infection US 										
138777	N	Addison's disease	IMMUNE	IMM	Addison Disease	3	3p21	CCR2	46370363	46377429		Gambelunghe, G.  et al. 2004	15086346	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			European journal of immunogenetics. 2004 Apr;31(2):73-6	Lack of association of human chemokine receptor gene polymorphisms CCR2-64I and CCR5-Delta32 with autoimmune Addison's disease.		601267	9193	2	2004	Our results indicate that the CCR2-64I and CCR5-Delta32 gene polymorphisms do not play a major role in conferring genetic risk for, and/or protection against, autoimmune Addison's disease.	Control:127 healthy controls;Case:56 patients with autoimmune Addison's disease										
138778	Y	HIV	INFECTION	INF		3	3p21	CCR2	46370363	46377429		Ryabov, G. S.  et al. 2004	15140377				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Russian		CDC GDPinfo	1231	Hs.644637			Genetic testing. 2004 ;8(1):73-6	Prevalence of alleles associated with HIV resistance in Russia.		601267	9196	2	2004	A significant linkage disequilibrium (p = 0.0034) between CCR2-64I and SDF1-3'A alleles was observed.	Cohort 171 HIV-1-seronegative individuals Moscow 										
138779	N	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Disease Progression	3	3p21	CCR2	46370363	46377429		Ruiz-Ferrer, M.  et al. 2004	15230854	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Spanish		CDC GDPinfo	1231	Hs.644637			Journal of viral hepatitis. 2004 Jul;11(4):319-23	Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies.		601267	9199	2	2004	Our results seem to indicate that the CCR5-Delta32 and CCR2-V64I polymorphisms are not related to the response to HCV infection, histological damage and outcome of infection in our cohort of Spanish HCV patients.	Control:100 healthy blood donors;Case:139 patients with hepatitis C										
138780		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429			15575507	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Ukrainian, Russian, Belarusian	Byelarus|Russia|Ukraine	CDC GDPinfo	1231	Hs.644637			Genetika. 2004 Oct;40(10):1394-401	[Distribution of the HIV-1 resistance-conferring alleles (CCR5delta32, CCR2-64I, and SDF1 3'A) in Russian, Ukrainian, and Belarusian populations]		601267	9205	2	2004	The data on the allele frequencies and the relative hazard values in Russians, Ukrainians and Belarussians can be used as the predictors of AIDS onset and progression rate in HIV-1-infected individuals from the populations studied.	Cohort HIV-infected individuals from three native population samples from Russia, Ukraine, and Belarus 										
138781		Alzheimer's disease; multiple sclerosis; HIV	NEUROLOGICAL	NEUR		3	3p21	CCR2	46370363	46377429		Ye, J. J.  et al. 2003	15639953	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese		CDC GDPinfo	1231	Hs.644637			Yi chuan. 2003 Nov;25(6):655-9	[Distribution of the HIV/AIDS Associated CCR5Delta32,CCR2b-64I,SDF1-3'A Allelesin Chinese Dai and Chingpaw Populations from Dehong Autonomous Prefecture of Yunnan Province.]		601267	9206	2	2003	The frequencies of CCR5delta32,CCR2b-64I alleles in Chinese Dai and Chingpaw populations are similar to that in Chinese Han population,while the frequency of SDF1-3'A allele in Chinese Dai and Chingpaw populations are lower in contrast to that in Chinese Han population.The genotyping and polymorphism of CCR5delta32,CCR2b-64I,SDF1-3'A alleles in Chinese Dai and Chingpaw populations of Yunnan Province are the first time studied in China.The significance of the three mutant alleles conferring genetic resistance to HIV-1 and AIDS progression remains to be clarified.	Cohort 101/113 Dai (n=101) and Chingpaw (n=113) individuals Yunnan Province, China 										
138782	Y	HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Deng, X. L.  et al. 2004	15769362	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese		CDC GDPinfo	1231	Hs.644637			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1050-3	[Genetic polymorphism of human immunodeficiency virus coreceptor CCR5Delta32 and CCR2-64I alleles in Chinese Yi Ethnic group in Sichuan]		601267	9208	2	2004	 The polymorphism of CCR5Delta32 and CCR2-64I alleles from Chinese Yi Ethnic group was detected which was of significance for the evaluation of genetic resistance to HIV-1 infection in Chinese population.	Control:119 healthy individuals;Case:88 HIV-1 infected individuals of Chinese Yi Ethnic:gourp:Sichuan										
138783		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity	3	3p21	CCR2	46370363	46377429		Geskus, R. B.  et al. 2005	15980693	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2005 Jul;39(3):321-6	Causal pathways of the effects of age and the CCR5-Delta32, CCR2-64I, and SDF-1 3'A alleles on AIDS development.		601267	9211	2	2005	 Age and the CCR5-Delta32 deletion and CCR2-64I mutation influence AIDS progression by affecting CD4 and HIV-1 RNA. The SDF-1 3'A allele increases the AIDS risk, but this effect is countered by its effect on CD4 and HIV-1 RNA level.											
138785		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Hladik, F.  et al. 2005	16140745	Delta32ccr5		promoter	CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of virology. 2005 Sep;79(18):11677-84	Combined effect of CCR5-Delta32 heterozygosity and the CCR5 promoter polymorphism -2459 A/G on CCR5 expression and resistance to human immunodeficiency virus type 1 transmission.		601267	9213	2	2005	We conclude that  the CCR5 ORF delta32/wt-CCR5 -2459 A/G genotype combination offers an advantage in resisting sexual HIV-1 transmission and that this effect is mediated by a relative paucity of CCR5 on potential target cells of HIV-1.											
138787		HIV	INFECTION	INF		3	3p21	CCR2	46370363	46377429		Wang, X. H.  et al. 2005	16261210	Delta32ccr5			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese		CDC GDPinfo	1231	Hs.644637			Zhonghua shi yan he lin chuang bing du xue za zhi. 2005 Sep;19(3):256-9	[Effect of CCR5delta32, CCR5m303, CCR2-64I and SDF1-3'A gene polymorphism on the prognosis of Chinese HIV-1 carriers]		601267	9217	2	2005	 CCR2-64I gene mutation may not significantly affect virus load of Chinese HIV-1 carriers, nor it affect the incubation period of HIV-1 carriers. SDF1-3'A gene mutation can decrease virus load, but it may not prolong the incubation period of HIV-1 carriers.											
138788		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ortlepp, J. R.  et al. 2005	16207551				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			International journal of cardiology. 2005 Oct;105(1):90-5	Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years.		601267	14735	2	2005	 Certain GRF might have additive but small effects on the disposition for MI before the age of 65. In older patients the tested GRF had no effect, possibly indicating a mechanism of aging rather than a purely genetic determined entity. Given the small effect of the tested genetic polymorphisms the value of testing GRF remains uncertain.			Cardiovascular risk factors (CRF)		genetic risk factors (GRF)				Y	Age < 65 years	myocardial infarction
138789		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Izawa, H.  et al. 2003	12654703				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese		CDC GDPinfo	1231	Hs.644637			Hypertension. 2003 May;41(5):1035-40	Prediction of genetic risk for hypertension.		601267	15634	2	2003	These results suggest that 2 and 1 genes may be susceptibility loci for hypertension in Japanese men and women, respectively, and that genotyping of these polymorphisms may prove informative for prediction of the genetic risk for hypertension.	Case:1067 unrelated Japanese subjects with hypertension;Control:873:controls										
138790	Y	myocardial infarct; heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low|Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ortlepp, J. R.  et al. 2003	12719858				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of molecular medicine (Berlin, Germany). 2003 Jun;81(6):363-7	Chemokine receptor (CCR2) genotype is associated with myocardial infarction and heart failure in patients under 65 years of age.		601267	15635	2	2003	The CCR2 genotype seems to predispose patients for myocardial infarction before the age of 65 years. The higher prevalence of heart failure in gene carriers with the rare alle might be a consequence of myocardial infarction. If the CCR2 genotype is associated with higher mortality in the general population must be investigated in further studies.	Cohort 1,960 consecutive patients aged under 65 years and referred for a first-time left ventricular catheter 										
138792	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Philpott, S.  et al. 2004	15472820				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Clinical infectious diseases. 2004 Sep;39(6):861-5	CCR2 genotype and disease progression in a treated population of HIV type 1-infected women.		601267	15637	2	2004	No association was seen between CCR2 genotype and either disease progression or therapeutic response, suggesting that the benefits of treatment most likely overshadow the salutary effects of the V64I polymorphism.	Cohort 2,047 HIV-1-infected women, most of whom initiated treatment during the study 	antiretroviral									
138793		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3p21	CCR2	46370363	46377429		Gonzalez, P.  et al. 2001	11477473				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Genes and immunity. 2001 Jun;2(4):191-5	Genetic variation at the chemokine receptors CCR5/CCR2 in myocardial infarction		601267	15641	2	2001	Our data suggest that the variation at the CCR5 gene could modulate the age at the onset of MI. Patients carrying the Deltaccr5-allele would be protected against an early episode of MI. CCR5 and the CCR5-ligands are expressed by cells in the arteriosclerotic plaque. Thus, the protective role of Deltaccr5 could be a consequence of an attenuated inflammatory response, that would determine a slower progression of the arteriosclerotic lesion among Deltaccr5-carriers. Our work suggests that the pharmacological blockade of CCR5 could be a valuable therapy in the treatment of MI.	Case:214 male patients with an age at the first MI episode <55 years, 96 patients that suffered the first MI episode when older than 60 years:Asturias, Spain;Control:360 male population controls Asturias Spain										
138794		HIV disease progression	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Lathey, J. L.  et al. 2001	11709782				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2001 Dec;184(11):1402-11	Associations of CCR5, CCR2, and stromal cell-derived factor 1 genotypes with human immunodeficiency virus disease progression in patients receiving nucleoside therapy.		601267	15643	2	2001	The SDF-1 homozygous 3'A variant was related to more-rapid disease progression, and CCR5 Delta32 was associated with reduced rates of hazard for disease progression in nucleoside-treated subjects.	Cohort 354 human immunodeficiency virus type 1 positive subjects who were being treated with nucleosides 										
138795		HIV disease progression	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression	3	3p21	CCR2	46370363	46377429		Tang, J.  et al. 2002	11752157				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian		CDC GDPinfo	1231	Hs.644637			Journal of virology. 2002 Jan;76(2):662-72	Distribution of chemokine receptor CCR2 and CCR5 genotypes and their relative contribution to human immunodeficiency virus type 1 (HIV-1) seroconversion, early HIV-1 RNA concentration in plasma, and later disease progression.		601267	15644	2	2002	Broadly consistent findings in the larger MACS Caucasian SCs and the smaller groups of MACS African-American SCs and the DCG and SFMHS Caucasian SCs indicate that specific CCR2-CCR5 haplotypes or genotypes mediate initial acquisition of HIV-1 infection, early host-virus equilibration, and subsequent pathogenesis.	Cohort 703 participants in the Multicenter AIDS Cohort Study (MACS) District of Columbia, San Francisco 										
138796	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	3	3p21	CCR2	46370363	46377429		Nakajima, K.  et al. 2002	11756347				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese	Japan	CDC GDPinfo	1231	Hs.644637			Diabetes. 2002 Jan;51(1):238-42	Chemokine receptor genotype is associated with diabetic nephropathy in Japanese with type 2 diabetes.		601267	15645	2	2002	These results suggest that the CCR5 promoter 59029 A genotype may be an independent risk factor for diabetic nephropathy in patients with type 2 diabetes.	Cohort 401 patients with type 2 diabetes who had serum creatinine <2.0 mg/dl 										
138797		HIV infection	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Tang, J.  et al. 2002	11958683				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	African American		CDC GDPinfo	1231	Hs.644637			AIDS research and human retroviruses. 2002 Apr;18(6):403-12	CCR2 and CCR5 genotypes in HIV type 1-infected adolescents: limited contributions to variabilityin plasma HIV type 1 RNA concentration in the absence of antiretroviral therapy.		601267	15647	2	2002	Thus, among the major CCR2-CCR5 haplotypes/genotypes in chronically infected and predominantly African-American adolescents, only the E/E genotype appeared to influence early host-virus equilibration.	Control:179 seronegative adolescent participants from the Reaching for Excellence in Adolescent Care and Health (REACH) Study of the Adolescent Medicine and HIV/AIDS Research Network.;Case:228 seropositive adolescent participants from the Reaching for Excellence in Adolescent Care and Health (REACH) Study of the Adolescent Medicine and HIV/AIDS Research Network.		CCR2		CCR5				Y		HIV infection
138798	N	cryptosporidiosis; Mycobacterium avium complex; pneumocystis carinii pneumonia; toxoplasmosis	INFECTION	INF	AIDS-Related Opportunistic Infections|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ashton, L. J.  et al. 2002	12010355	CCR5-DDelta32			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			HIV medicine. 2002 Apr;3(2):91-6	Heterozygosity for CCR5-DDelta32 but not CCR2b-64I protects against certain intracellular pathogens		601267	15648	2	2002	 Results from this study show that heterozygosity for CCR5-Delta32 but not CCR2b-64I appears to protect against opportunistic infections.	Cohort 117 homosexual men diagnosed with AIDS before January 1998 										
138799		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Viremia	3	3p21	CCR2	46370363	46377429		Dorak, M. T.  et al. 2002	12403355				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Immunologic research. 2002 ;26(3-Jan):167-75	C-C chemokine receptor 2 and C-C chemokine receptor 5 genotypes in patients treated for chronic hepatitis C virus infection		601267	15650	2	2002	Differential receptor expression due to E/E homozygosity in HCV infection remains to be confirmed.	Cohort 250 chronically infected HCV patients receiving combined interferon/ribavirin therapy 										
138800		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Clegg, A.  et al. 2003	12584049				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Clinical immunology (Orlando, Fla). 2003 Jan;106(1):36-40	Chemokine receptor genotype and response to interleukin-2 therapy in HIV-1-infected individuals		601267	15651	2	2003	This study highlights the importance of interactions between IL-2 and CCR5; at the clinical level, it argues for assessment of chemokine receptor genotype in IL-2 and perhaps other immune-based therapy trials.	Cohort 47 a cohort of HIV-1 infected individuals that received IL-2 therapy 	IL-2									
138801		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Lewandowska, M.  et al. 2003	12884524	CCR2-64I/CCR5-59653T			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Polish	Poland	CDC GDPinfo	1231	Hs.644637			Genetika. 2003 Jun;39(6):831-3	Determination of the CCR2-64I/CCR5-59653T haplotype linkage disequilibrium in a sample of Polish population.		601267	15655	2	2003	Our results confirm that linkage between CCR5-59653T and CCR2-64I alleles is not absolute.	Cohort 281 individuals 										
138802	N	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	3	3p21	CCR2	46370363	46377429		Zhao, X.  et al. 2003	14533004				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Sweden	CDC GDPinfo	1231	Hs.644637			International journal of molecular medicine. 2003 Nov;12(5):749-53	Genotypes of CCR2 and CCR5 chemokine receptors in human myasthenia gravis.		601267	15656	2	2003	Results obtained from 158 patients and 272 healthy controls demonstrate no evidence of association between genetic variants of CCR2 and CCR5 with MG and its clinical manifestations. CCR2-64I and CCR5-Delta 32 genotypes are thus unlikely to be involved in protection or predisposition to MG.	Case:158 myasthenia gravis cases;Control:272 healthy controls										
138804		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome	3	3p21	CCR2	46370363	46377429		Silverberg, M. J.  et al. 2004	14742283				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		United States	CDC GDPinfo	1231	Hs.644637			American journal of epidemiology. 2004 Feb;159(3):232-41	Fraction of cases of acquired immunodeficiency syndrome prevented by the interactions of identified restriction gene variants.		601267	15659	2	2004	Overall, 30% of potential AIDS cases were prevented by the observed combinations of restriction genes	Cohort 525 US men with HIV-1 seroconversion 1984-1996 										
138805	N	endometriosis	REPRODUCTION	REP	Endometriosis	3	3p21	CCR2	46370363	46377429		Antinolo, G.  et al. 2004	14981141				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Molecular human reproduction. 2004 Mar;10(3):155-7	Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.		601267	15660	2	2004	These data would suggest the lack of association between these polymorphisms and endometriosis in our population, although they do not permit us to discard completely a possible role of other variants within CCR5 and CCR2 genes in this pathology.	Case Spanish women with endometriosis;Control:controls										
138806	Y	hepatitis C	INFECTION	INF	Hepatitis C|Fibrosis	3	3p21	CCR2	46370363	46377429		Mascheretti, S.  et al. 2004	15086398				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Clinical and experimental immunology. 2004 May;136(2):328-33	Genetic variants in the CCR gene cluster and spontaneous viral elimination in hepatitis C-infected patients.		601267	15661	2	2004	The G190A polymorphism (variant allele Ile64) in the first transmembrane domain of CCR2 was under-represented in the 29 patients who had cleared the hepatitis C virus spontaneously (P = 0.018). None of the other variants in the CCR gene cluster showed association with the natural course of the infection, stage of fibrosis or response to therapy.	Control:370 matched controls;Case:465 consecutively recruited patients infected with HCV										
138807		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Bogner, J.  et al. 2004	15236615				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			HIV medicine. 2004 Jul;5(4):264-72	Association of highly active antiretroviral therapy failure with chemokine receptor 5 wild type.		601267	15662	2	2004	 Chemokine receptor polymorphisms have a modifying effect on the virological response to HAART. Multivariate analysis demonstrated that heterozygosity for the CCR5-Delta32-bp variant is an independent prognostic factor for treatment outcome.	Control:221 healthy controls;Case:256 HIV-infected patients receiving highly active antiretroviral therapy	antiretroviral									
138808	Y	HIV	INFECTION	INF	HIV Infections|Substance Abuse, Intravenous|Disease Progression	3	3p21	CCR2	46370363	46377429		Nguyen, L.  et al. 2004	15362666			promoter	CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Thai	Thailand	CDC GDPinfo	1231	Hs.644637			AIDS (London, England). 2004 Jun;18(9):1327-33	CCR5 promoter human haplogroups associated with HIV-1 disease progression in Thai injection drug users.		601267	15663	2	2004	 This is the first evidence that the CCR5 haplogroup E speeds the decline of the CD4 cell count and may lead to accelerated disease progression among HIV-infected Thais. These new observations highlight the need for additional studies involving populations in Asia.	Cohort 106 of 130 HIV-1-seropositive injection drug users in a pospective cohort study in Bangkok Bangkok, Thailand 										
138809		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Gharagozloo, M.  et al. 2005	15585333	CCR5-DDelta32			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Iranian	Iran	CDC GDPinfo	1231	Hs.644637			Immunology letters. 2005 Jan;96(2):277-81	The frequency of CCR5Delta32 and CCR2-64I in southern Iranian normal population.		601267	15664	2	2005	This data is the first finding on the frequencies of CCR5Delta32 and CCR2-64I alleles in Iranian population. Results of the present study suggest that low frequency of CCR5Delta32 allele may be related to higher genetic susceptibility to the HIV-1 infection in Iranians. Results also suggest that the CCR2-64I mutation is sufficiently common in Iranians and may be associated with slower HIV infection progression in Iran.	Cohort 341 normal Iranian individuals Iran 										
138811		HIV	INFECTION	INF	Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		De Pinho Lott Carvalhaes, F. A.  et al. 2004	15754978	CCR5-DDelta32			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Indian	Brazil|Japan	CDC GDPinfo	1231	Hs.644637			Human biology; an international record of research. 2004 Aug;76(4):643-6	Distribution of CCR5-delta32, CCR2-64I, and SDF1-3'A mutations in populations from the Brazilian Amazon region.		601267	15666	2	2004	The results suggest that Amerindians may be genetically more susceptible to HIV-1 infection and disease progression than the other human groups studied.	Cohort individuals of the urban population of Belem and in Afro-Brazilians, Amerindians, and Japanese immigrants Para, Brazil 										
138812		HIV; HIV disease progression	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR2	46370363	46377429		Apostolakis, S.  et al. 2005	16286055				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Greece	CDC GDPinfo	1231	Hs.644637			Journal of clinical virology. 2005 Dec;34(4):310-4	Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population.		601267	15670	2	2005												
138813	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Casula, M.  et al. 2004	14722037				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3		Italy	CDC GDPinfo	673	Hs.550061			Journal of clinical oncology. 2004 Jan;22(2):286-92	BRAF Gene Is Somatically Mutated but Does Not Make a Major Contribution to Malignant Melanoma Susceptibility: The Italian Melanoma IntergroupStudy		164757	15721	2	2004	 utation analysis of either blood DNA from a large collection of MM patients or matched MM tissues from a subset of such patients revealed that BRAF is somatically mutated and does not play a major role in melanoma susceptibility. The present study further suggests that patient origin may account for different mutation rates in candidate genes.	Cohort 358 consecutively collected patient samples southern Italy Cohort 569 malignant melanoma patinets northern and southern Italy 										
138814	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	3	3p21	CCR2	46370363	46377429		Debniak, T.  et al. 2004	15057041	1100delC			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Melanoma research. 2004 Apr;14(2):121-4	Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skin.		604373	15806	2	2004	It seems that examination of sporadic or familial MM cases for the 1100delC germline mutation in CHK2 is not justified. To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined.	Cohort 101 patients with histologically confirmed sporadic malignant melanoma of the skin Poland 										
138815		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	3	3p21	CCR2	46370363	46377429		Hoffmann, S.  et al. 2004	15458467				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		601267	17737	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
138816		HIV; atherosclerosis, generalized	INFECTION	INF	HIV Infections|Carotid Artery Diseases|Arteriosclerosis|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Alonso-Villaverde, C.  et al. 2004	15466648				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Circulation. 2004 Oct;110(15):2204-9	Atherosclerosis in Patients Infected With HIV Is Influenced by a Mutant Monocyte Chemoattractant Protein-1 Allele		601267	20674	2	2004	 HIV-infected patients with the MCP-1-2518G allele have a 5-fold increased risk for atherosclerosis, as assessed by ultrasonography.	Case:183 patients infected with HIV;Control:348 population-based control subjects										
138817		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429			16356504				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Icelandic		CDC GDPinfo	1231	Hs.644637			Atherosclerosis. 2005	Examination of genetic effects of polymorphisms in the MCP-1 and CCR2 genes on MI in the Icelandic population		601267	20675	2	2005												
138818	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR2	46370363	46377429		Yang, B.  et al. 2004	15135805				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Cytokine. 2004 May;26(3):114-21	Polymorphisms of chemokine and chemokine receptor genes in Type 1 diabetes mellitus and its complications.		601267	20676	2	2004	These results suggest that polymorphisms of the MCP-1, CCR2 and CCR5 genes may be associated with T1DM and its complications.	Control:104 normal controls;Case:260 patients with type 1 diabetes with and without diabetic microvascular complications										
138819		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	3	3p21	CCR2	46370363	46377429		Konishi, I.  et al. 2004	15192276				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese	Japan	CDC GDPinfo	1231	Hs.644637			Intervirology. 2004 ;47(2):114-20	CCR5 promoter polymorphism influences the interferon response of patients with chronic hepatitis C in Japan.		601267	20677	2	2004	 These findings indicate that CCR5 59029 is a host genetic factor that is associated with responses to IFN therapy among Japanese patients with chronic hepatitis C.	Cohort 105 patients with chronic hepatitis C Japan 										
138821		hepatitis C	INFECTION	INF	Hepatitis C	3	3p21	CCR2	46370363	46377429		Goulding, C.  et al. 2005	15863470				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Gut. 2005 Aug;54(8):1157-61	The CCR5-delta32 mutation: impact on diseaseoutcome in individuals with hepatitis C infection from a single source.		601267	20679	2	2005	 Heterozygosity for CCR5delta32 was shown to be significantly associated with spontaneous hepatitis C viral clearance and with significantly lower hepatic inflammatory scores in subgroups within this cohort. Both controls and the HCV population had similar heterozygosity frequencies.	Cohort 283 women, all exposed to HCV genotype 1b from a single donor, and including those who had spontaneously cleared the virus and those chronically infected 										
138822		heart transplant complications	OTHER	OTH	Acute Disease	3	3p21	CCR2	46370363	46377429			16314800				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Transplantation. 2005 Nov;80(9):1309-15	CCR5, RANTES and CX3CR1 Polymorphisms: PossibleGenetic Links with Acute Heart Rejection		601267	20680	2	2005	 This exploratory study in heart transplantation suggests that the outcomes of EAR and LAR episodes may be influenced by genetic variant interactions such as CX3CR1 249I*CCR5 No-E and CCR5 E*RANTES -403A.											
138823		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	3	3p21	CCR2	46370363	46377429		Promrat, K.  et al. 2003	12557141				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Gastroenterology. 2003 Feb;124(2):352-60	Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C		601267	20681	2	2003	 In this cohort, the frequency of CCR5Delta32 homozygosity in patients with hepatitis C was similar to controls. The high prevalence of CCR5Delta32 homozygosity in the hepatitis C virus patients of the earlier study likely reflects resistance to human immunodeficiency virus infection in hemophiliacs rather than a susceptibility to hepatitis C virus infection. Expression of CCR5 and RANTES may be important in the modulation of hepatic inflammation and response to interferon therapy in chronic hepatitis C.	Control:2380 blood donors;Case:417 patients with liver diseases (339 with hepatitis C)										
138824	N	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity	3	3p21	CCR2	46370363	46377429		Liu, H.  et al. 2004	15319853				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2004 Sep;190(6):1055-8	Analysis of genetic polymorphisms in CCR5, CCR2, stromal cell-derived factor-1, RANTES, and dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin in seronegative individuals repeatedly exposed to HIV-1.		601267	20682	2	2004	The frequency of homozygous C-C chemokine receptor (CCR) 5- Delta 32 was higher in ES than in HIV-1-seropositive individuals. However, the CCR5-59029A, CCR2-64I, stromal cell-derived factor (SDF)-1-3'A, RANTES (regulated on activation, normally T cell-expressed and -secreted)-403A, and RANTES-28G polymorphisms were not associated with resistance to HIV-1 infection. Furthermore, we identified novel variants in the DC-SIGN (dendritic cell-specific intercellular adhesion molecule-3-grabbing nonintegrin) repeat region and observed that heterozygous DC-SIGN reduced the risk of HIV-1 infection.	Case:316 HIV-1-seropositive individuals;Control:425 HIV-1-seronegative individuals;Case:94 repeatedly exposed seronegative (ES) individuals										
138825		lupus erythematosus	IMMUNE	IMM	Arthritis|Lupus Erythematosus, Systemic	3	3p21	CCR2	46370363	46377429		Ye, D. Q.  et al. 2004	15611878				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese		CDC GDPinfo	1231	Hs.644637			Archives of dermatological research. 2005 Feb;296(8):366-71	The correlation between monocyte chemoattractant protein-1 and the arthritis of systemic lupus erythematosus among Chinese		601267	24111	2	2004	The results indicate an association between the presence of G at position -2518 in the MCP-1 promoter region and the presence of arthritis in patients with SLE.	Case:142 Chinese patients with systemic lupus erythematosus;Control:157 healthy controls										
138826	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Szalai, C.  et al. 2001	11500196				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Atherosclerosis. 2001 Sep;158(1):233-9	Involvement of polymorphisms in the chemokine system in the susceptibility for coronary artery disease (CAD). Coincidence of elevated Lp(a) and MCP-1 -2518 G/G genotype in CAD patients.		601267	24112	2	2001	The MCP-1 -2518G variant in homozygous form appears as a genetic risk factor for severe CAD. This genotype is associated with elevated Lp(a) levels in patients. Individuals homozygous for CCR2-64I or CCR5Delta32 mutations are at reduced risk for severe CAD.	Case:318 patients with coronary artery disease (CAD) referred to coronary bypass surgery;Control:320 healthy controls										
138828		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429			16323127				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2006 Jan;193(1):16-26	Behavioral Risk Exposure and Host Genetics of Susceptibility to HIV-1 Infection		601267	24114	2	2006	 Our results suggest that genetic variants in associated host genes may play an important role in susceptibility to HIV-1 infection.											
138829		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	3	3p21	CCR2	46370363	46377429		Hellier, S.  et al. 2003	14647058				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		601267	25870	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
138830		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	3	3p21	CCR2	46370363	46377429		Zee, R. Y.  et al. 2002	12082592				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		601267	28279	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
142539		autoimmunity	IMMUNE	IMM	Arthritis, Rheumatoid|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Pascual M et al. 2001	11345587	DQB1*0302, *0303, and *0402				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	KGB	3119	Hs.409934			Immunogenetics. 2001 Mar;53(2):114-8	Distribution of HERV-LTR elements in the 5'-flanking region of HLA-DQB1 and association with autoimmunity.		604305	7904	1	2001												
138833		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q21	CNP	37372284	37383280		Ono, K.  et al. 2002	12452325				2',3'-cyclic nucleotide 3' phosphodiesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033133.4			CDC GDPinfo	1267	Hs.273621			Hypertension research. 2002 Sep;25(5):727-30	A single-nucleotide polymorphism in C-type natriuretic peptide gene may be associated with hypertension.		123830	9432	2	2002	One of the variants, G2628A in 3'-UTR, was found to be associated with blood pressure. Multiple logistic analyses indicated that the genotype of the G2628A polymorphism (GG=1, GA+AA=2) (p=0.0034), sex (p=0.0288), alcohol consumption (p=0.0002), age (p<0.0001), and body mass index (p<0.0001) were predictors of hypertension. The odds ratio of the GA+AA genotype over the GG genotype for hypertension was 1.40 (p=0.0034, 95% confidence interval (CI) 1.12-1.75). Multiple logistic analyses in a younger subpopulation aged below 65 years indicated that the odds ratio of the GA+AA genotype over the GG genotype for hypertension was 1.58 (p=0.0024, 95%CI 1.18-2.12). Thus, the CNP G2628A polymorphism made an even greater contribution to hypertension in the younger subpopulation.	Cohort 2006 subjects recruited from the Suita study 										
138834		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q21	CNP	37372284	37383280			16389193				2',3'-cyclic nucleotide 3' phosphodiesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033133.4			CDC GDPinfo	1267	Hs.273621			Archives of general psychiatry. 2006 Jan;63(1):18-24	Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia		123830	15836	2	2006	 Our data support the hypothesis that reduced CNP expression in the schizophrenic brain is relevant to disease etiology and therefore provide support for the general hypothesis that altered oligodendrocyte function is an etiological factor in schizophrenia.											
138835	N	Obesity	METABOLIC	MET	Obesity	11	11q12.2	CNTF	58146720	58149778	n	Munzberg H 1998	9628240				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			TJB	1270	Hs.632114			Experimental and clinical endocrinology & diabetes. 1998 ;106(2):108-12			118945	1341	1	1998												
138837	Y	psychiatric diseases	PSYCH	PSY	Mental Disorders	11	11q12.2	CNTF	58146720	58149778		Thome J et al. 1996	8834105				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			KGB	1270	Hs.632114			Neuroscience letters. 1996 Jan;203(2):109-10	Association between a null mutation in the human ciliary neurotrophic factor (CNTF) gene and increased incidence of psychiatric diseases?		118945	1343	1	1996												
138838	Y	early onset of multiple sclerosis.	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting	11	11q12.2	CNTF	58146720	58149778		Giess R et al. 2002	11890844				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			KGB	1270	Hs.632114			Archives of neurology. 2002 Mar;59(3):407-9	Association of a null mutation in the CNTF gene with early onset of multiple sclerosis.		118945	1344	1	2002	 These results suggest that CNTF contributes to time and site of early clinical manifestation. The frequency of patients with MS with a homozygous CNTF null mutation in this population was not higher than in control groups, indicating that the CNTF null mutation is not a risk factor for development of MS.	Cohort 288 unselected patients with multiple sclerosis (MS) (mean age, 40.2 plus minus 10.2 years; range, 18-71 years)										
138839		weight maintenance	METABOLIC	MET	Obesity|Weight Loss	11	11q12.2	CNTF	58146720	58149778		Vogels, N.  et al. 2005	16210701				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			The American journal of clinical nutrition. 2005 Oct;82(4):740-6	Relation of weight maintenance and dietary restraint to peroxisome proliferator-activated receptor gamma2, glucocorticoid receptor, and ciliary neurotrophic factor polymorphisms.		118945	10898	2	2005	 The different genotypes of the PPARgamma2 and GRL genes contribute to WM, either directly (GRL) or indirectly (PPARgamma2 and GRL) via baseline body mass index and waist circumference, and to changes in Three-Factor Eating Questionnaire scores.											
138841	Y	body mass	METABOLIC	MET		11	11q12.2	CNTF	58146720	58149778		O'Dell, S. D.  et al. 2002	12404108				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			European journal of human genetics. 2002 Nov;10(11):749-52	Null mutation in human ciliary neurotrophic factor gene confers higher body mass index in males.		118945	15846	2	2002	There was no effect in women. The CNTF G>A null mutation therefore confers a moderate effect on obesity in males of A/A genotype, who represent 1% of the general population.	Cohort women Cohort 575 Caucasian men aged 59-73 years 										
138842	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	11	11q12.2	CNTF	58146720	58149778		Hoffmann, V.  et al. 2002	12470191				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			Archives of neurology. 2002 Dec;59(12):1974; author reply 1974-5	A null mutation in the CNTF gene is not associated with early onset of multiple sclerosis.		118945	15847	2	2002	Even though CNTF might appear to be a promising disease-modifying gene, our data do not confirm the results described by Giss and colleagues. WE suggest that the requierment for CNTF in myelogenesis or cell survival may be bypassed by the presence of a second ligand or the redundancy of functional activity of other complementary neurotrophic factors.	Case:349 multiple sclerosis patients;Control:434 healthy controls										
138843	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	11	11q12.2	CNTF	58146720	58149778		Hoffmann V. et al 2002	12470191				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			Archives of neurology. 2002 Dec;59(12):1974; author reply 1974-5	A null mutation in the CNTF gene is not associated with early onset of multiple sclerosis.		118945	15848	2	2002	There was no significant correlation between the CNTF genotype and age at onset, clinical course, or severity of MS	Case:349 patients with multiple sclerosis;Control:434 healthy controls										
138844		motor unit response	OTHER	OTH		11	11q12.2	CNTF	58146720	58149778		Conwit, R. A.  et al. 2005	16181490				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			BMC physiology [electronic resource]. 2005 ;5:15	The relationship between ciliary neurotrophic factor (CNTF) genotype and motor unit physiology:preliminary studies.		118945	15849	2	2005	 Differential motor unit responses were observed between CNTF genotypes at force levels utilized in daily activities.											
138845		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11q12.2	CNTF	58146720	58149778		Hoffmann, V.  et al. 2002	11857064				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			Genes and immunity. 2002 Feb;3(1):53-5	A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibilityand disease severity in patients with multiple sclerosis.		118945	17457	2	2002	We therefore conclude, that the requirement for CNTF in myelogenesis or cell survival may be bypassed by a second ligand or redundancy of functional activity of other neurotrophic factors.	Case:349 multiple sclerosis patients;Control:434 healthy controls		CNTF	null	HLA-DRB1	15			Y		multiple sclerosis
138846	N	Tourette`s Syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530	n	Cavallini MC 2000	11166081	Val- 158 Met substitution			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Psychiatry research. 2000 Dec;97(3-Feb):93-100	An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome.		116790	6927	1	2000	The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology.	Case:52 Tourette syndrome patients;Control:63 heatlhy individuals										
138847	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530	P=9.5x10-8	Shifman S 2002	12402217	rs737865-rs165599			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Ashkenazi Jewish ethnic origin		KGB	1312	Hs.370408			American journal of human genetics. 2002 Dec;71(6):1296-302	A highly significant association between a COMT haplotype and schizophrenia.		116790	6928	1	2002	We found a highly significant association between schizophrenia and a COMT haplotype (P=9.5x10-8). The approach presented can be widely implemented for the genetic dissection of other common diseases.											
138849	Y	cognitive function	AGING	AGE		22	22q11.21-q11.23	COMT	18309308	18336530		Tsai SJ	12566168	Val allele			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	chinese		KEW	1312	Hs.370408			Neuroscience letters. 2003 Feb;338(2):123-6			116790	6930	1	2003												
138850		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Liou YJ et al. 2001	11150892				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	KGB	1312	Hs.370408			Neuropsychobiology. 2001 Jan;43(1):4-Nov	Association analysis of a functional catechol-o-methyltransferase gene polymorphism in schizophrenic patients in Taiwan.		116790	6931	1	2001	The results failed to show significant association between val158met polymorphism and schizophrenia, violence or suicide. However, our results showed a significant difference in age at disease onset among different genotypes (F = 5.501, p = 0.005).	Control:188:controls;Case:198 Chinese schizophrenic patients										
138851	N	anxiety disorders	PSYCH	PSY	Anxiety Disorders|Panic Disorder|Phobic Disorders	22	22q11.21-q11.23	COMT	18309308	18336530	n	Ohara K et al. 1998	9754693				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Psychiatry research. 1998 Aug;80(2):145-8	No association between anxiety disorders and catechol-O-methyltransferase polymorphism.		116790	6932	1	1998												
138853		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Chen CH et al. 1997	9110105				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 1997 May;41(9):985-7	Association study of NlaIII and MspI genetic polymorphisms of catechol-O-methyltransferase gene and susceptibility to schizophrenia.		116790	6934	1	1997												
138855		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Kunugi H et al. 1997	9121699				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Japan	KGB	1312	Hs.370408			Neuroscience letters. 1997 Jan;221(3-Feb):202-4	High and low activity alleles of catechol-O-methyltransferase gene: ethnic difference and possible association with Parkinson's disease.		116790	6936	1	1997												
138856		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Karayiorgou M et al. 1999	10331110				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 1999 May;45(9):1178-89	Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder.		116790	6937	1	1999	 Our analysis indicates that variants of two genes modulating monoamine metabolism contribute significantly to OCD susceptibility. Most importantly, an unexpected sexually dimorphic pattern of genetic susceptibility to OCD is revealed and suggests the possibility that profound gender differences in genetic predisposition may exist not only for other OCD susceptibility genes, but for an array of other psychiatric disorders as well.											
138857	Y	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Schindler KM et al. 2000	11121168				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 2000 Dec;96(6):721-4	Association between homozygosity at the COMT gene locus and obsessive compulsive disorder.		116790	6938	1	2000												
138858	N	high- or low-activity allele of catechol-o-methyltransfer	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530	n	Kunugi H et al. 1997	9270905				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 1997 Aug;42(4):282-5	No evidence for an association of affective disorders with high- or low-activity allele of catechol-o-methyltransferase gene.		116790	6939	1	1997	We conclude that  genetic variation that determines high and low activities of COMT does not have a major effect on the vulnerability to affective disorders in our sample.											
138859		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism	22	22q11.21-q11.23	COMT	18309308	18336530		Kohnke MD et al. 2003	12741370				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Neuropsychopharmacology. 2003 May;28(5):1004-10	Plasma homovanillic acid: a significant association with alcoholism is independent of a functional polymorphism of the human catechol-O-methyltransferase gene.		116790	6940	1	2003												
138860		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Toyota T et al. 2002	12082558				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese	China	KGB	1312	Hs.370408			Molecular psychiatry. 2002 ;7(5):446-7	Family-based association studies of COMT gene polymorphisms and schizophrenia in the Chinese population.		116790	6941	1	2002												
138861	Y	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	22	22q11.21-q11.23	COMT	18309308	18336530		Frisch A et al. 2001	11317231				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Israel	KGB	1312	Hs.370408			Molecular psychiatry. 2001 Mar;6(2):243-5	Association of anorexia nervosa with the high activity allele of the COMT gene: a family-based study in Israeli patients.		116790	6942	1	2001												
138862		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	22	22q11.21-q11.23	COMT	18309308	18336530		Qian Q et al. 2003	12627475				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):103-9	Family-based and case-control association studies of catechol-O-methyltransferase in attention deficit hyperactivity disorder suggest genetic sexual dimorphism.		116790	6943	1	2003	Although these results suggest the COMT gene exerts some influence on the risk for ADHD in the Han Chinese population, given the potential for Type I error, these findings require replication before drawing definitive conclusions.											
138863		schizophrenia	PSYCH	PSY	Antisocial Personality Disorder|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Strous RD et al. 1997	9109174				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Psychiatry research. 1997 Mar;69(3-Feb):71-7	Analysis of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia: evidence for association with aggressive and antisocial behavior.		116790	6944	1	1997												
138864	N	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	22	22q11.21-q11.23	COMT	18309308	18336530	n	Hawi Z et al. 2000	10898900				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Irish		KGB	1312	Hs.370408			American journal of medical genetics. 2000 Jun;96(3):282-4	No association between catechol-O-methyltransferase (COMT) gene polymorphism and attention deficit hyperactivity disorder (ADHD) in an Irish sample.		116790	6945	1	2000												
138865	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Papolos DF et al. 1998	9702745				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Molecular psychiatry. 1998 Jul;3(4):346-9	Ultra-ultra rapid cycling bipolar disorder is associated with the low activity catecholamine-O-methyltransferase allele.		116790	6946	1	1998												
138867		bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Gutierrez B et al. 1997	8988970				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			The American journal of psychiatry. 1997 Jan;154(1):113-5	Association analysis of the catechol O-methyltransferase gene and bipolar affective disorder.		116790	6948	1	1997	 The lack of association suggests that the COMT gene is not a major risk factor for bipolar disorder.											
138868		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Herken H et al. 2001	11525417				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Turkey	KGB	1312	Hs.370408			Psychiatric genetics. 2001 Jun;11(2):105-9	Catechol-O-methyltransferase gene polymorphism in schizophrenia: evidence for association between symptomatology and prognosis.		116790	6949	1	2001												
138869	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Mynett-Johnson LA et al. 1998	9861640				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Ireland	KGB	1312	Hs.370408			Psychiatric genetics. 1998 ;8(4):221-5	Preliminary evidence of an association between bipolar disorder in females and the catechol-O-methyltransferase gene.		116790	6950	1	1998												
138870	Y	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Niehaus DJ et al. 2001	11426511				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Afrikaner		KGB	1312	Hs.370408			Journal of affective disorders. 2001 Jun;65(1):61-5	Association between a catechol-o-methyltransferase polymorphism and obsessive-compulsive disorder in the Afrikaner population.		116790	6951	1	2001	 These results emphasise the need for further studies in genetically homogeneous populations to help define the complex etiology of this disease.											
138871		alcoholism	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders|Alcoholism|Substance Withdrawal Syndrome	22	22q11.21-q11.23	COMT	18309308	18336530		Ishiguro H et al. 1999	10551543				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Japan	KGB	1312	Hs.370408			Psychiatric genetics. 1999 Sep;9(3):135-8	Association study between high and low activity polymorphism of catechol-O-methyltransferase gene and alcoholism.		116790	6952	1	1999												
138872		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Ohmori O et al. 1998	9535125				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese		KGB	1312	Hs.370408			Neuroscience letters. 1998 Feb;243(3-Jan):109-12	Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophrenics.		116790	6953	1	1998												
138873	Y	performance on the Wisconsin Card Sorting Test	PSYCH	PSY	Cognition Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Joober R et al. 2002	12090821				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Archives of general psychiatry. 2002 Jul;59(7):662-3	Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test.		116790	6954	1	2002												
138874	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	22	22q11.21-q11.23	COMT	18309308	18336530		Cao L et al. 2002	12476424				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Zhonghua yi xue yi chuan xue za zhi. 2002 Dec;19(6):499-501	Association study of heroin-dependence and -287 A/G polymorphism of catechol-O-methyltransferase gene		116790	6955	1	2002	 The results suggested that liability to heroin-dependence was associated with -287 A/G polymorphism of COMT gene.	Control:177 normal controls;Case:268 heroin-dependent subjects										
138875	Y	bipolar affective disorder.	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Li T et al. 1997	9352569				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese	China	KGB	1312	Hs.370408			Pharmacogenetics. 1997 Oct;7(5):349-53	Catechol-O-methyltransferase Val158Met polymorphism: frequency analysis in Han Chinese subjects and allelic association of the low activity allele with bipolar affective disorder.		116790	6956	1	1997												
138876	N	ovarian cancer risk	CANCER	CAN	Ovarian Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530	n	Goodman JE et al. 2000	11142424				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2000 Dec;9(12):1373-6	Catechol-O-methyltransferase polymorphism is not associated with ovarian cancer risk.		116790	6957	1	2000												
138877	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Kirov G et al. 1998	9702744				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Molecular psychiatry. 1998 Jul;3(4):342-5	Low activity allele of catechol-O-methyltransferase gene associated with rapid cycling bipolar disorder.		116790	6958	1	1998												
138878	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Alsobrook JP 2nd et al. 2002	11840516				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 2002 Jan;114(1):116-20	Association between the COMT locus and obsessive-compulsive disorder in females but not males.		116790	6959	1	2002												
138879	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Kotler M et al. 1999	10581481				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408	homocidal behavior		American journal of medical genetics. 1999 Dec;88(6):628-33	Homicidal behavior in schizophrenia associated with a genetic polymorphism determining low catechol O-methyltransferase (COMT) activity.		116790	6960	1	1999												
138880	N	mood disorders	PSYCH	PSY	Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Cusin C et al. 2002	11992560				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A COMT 5-HT2A DRD2 and DRD4 polymorphisms with illness time course in mood disorders.		116790	6961	1	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
138882	Y	alcoholism	CHEMDEPENDENCY	CHEM		22	22q11.21-q11.23	COMT	18309308	18336530	< 0.05	Kauhanen J et al. 2000	10698363	V158M	Variation in COMT metabolism (low-high)	coding sequence	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	population based sample, caucasian males		KGB	1312	Hs.370408			Alcoholism, clinical and experimental research. 2000 Feb;24(2):135-9	Association between the functional polymorphism of catechol-O-methyltransferase gene and alcohol consumption among social drinkers.		116790	6963	1	2000	 The results indicate that COMT polymorphism may contribute significantly to alcohol intake not only in alcoholics but also in a general male population.	Case:269; Control:627										
138883	Y	alcoholism	CHEMDEPENDENCY	CHEM	Myocardial Ischemia|Alcoholism	22	22q11.21-q11.23	COMT	18309308	18336530		Tiihonen J et al. 1999	10395222				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Finland	KGB	1312	Hs.370408			Molecular psychiatry. 1999 May;4(3):286-9	Association between the functional variant of the catechol-O-methyltransferase (COMT) gene and type 1 alcoholism.		116790	6964	1	1999												
138884	N	bipolar disorder	PSYCH	PSY	Disease Susceptibility|Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530	n	Lachman HM et al. 1997	9264133				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		New York City	KGB	1312	Hs.370408			Psychiatric genetics. 1997 ;7(1):13-7	Lack of association of catechol-O-methyltransferase (COMT) functional polymorphism in bipolar affective disorder.		116790	6965	1	1997												
138886	N	Schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530	n	Wei J 1999	10697824				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		KGB	1312	Hs.370408			Psychiatric genetics. 1999 Dec;9(4):183-6			116790	6967	1	1999												
138887	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Norton N et al. 2002	12116182				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 2002 Jul;114(5):491-6	Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis.		116790	6968	1	2002	Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia.	Control:173 controls (COMT genotyping only);Case:177 schizphrenics (COMT genotyping only);Control:334:controls;Case:346:schizophrenics								N		
138888		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Saintot M 2003	14520706	Val158Met COMT			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408	smoking		International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1~~~ catechol-o-methyltransferase and tobacco exposure in breast cancer risk.		116790	6969	1	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
138890	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Hong CC 2003	14504192				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Canada	KGB	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):838-47	Val158Met Polymorphism in catechol-O-methyltransferase gene associated with risk factors for breast cancer.		116790	6971	1	2003												
138891	Y	information processing	OTHER	OTH	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Gallinat J 2003	12842307	G1947A (Val(108/158)Met)			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 2003 Jul;54(1):40-8	Association of the G1947A COMT (Val(108/158)Met) gene polymorphism with prefrontal P300 during information processing.		116790	6972	1	2003	 The association of the frontal P300 amplitude with the G1947A COMT genotype further emphasizes the functional role of this SNP. As the finding was mainly observed in schizophrenic patients, this may indicate that additional factors are required to interact with COMT genotype to affect prefrontal function. The smaller frontal P300 amplitude in Met carriers suggests that the amount of noise in prefrontal neural networks during information processing might be in part under genetic control, which is mediated by dopamine.											
138893		Schizophrenia	PSYCH	PSY	Mental Disorders|Cognition Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Nolan KA 2004	14754787	Val158Met			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			The American journal of psychiatry. 2004 Feb;161(2):359-61	Catechol O-methyltransferase Val158Met polymorphism in schizophrenia: differential effects of Val and Met alleles on cognitive stability and flexibility.		116790	6974	1	2004	 The Met allele, by increasing tonic dopamine, may promote cognitive stability but limit cognitive flexibility.											
138895		obsessive-compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Meira-Lima I 2004	15005715				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Genes, brain, and behavior. 2004 Apr;3(2):75-9	Association analysis of the catechol-o-methyltransferase (COMT), serotonin transporter (5-HTT) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive-compulsive disorder.		116790	6976	1	2004	The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample. However, further studies using larger samples and family based methods are recommended to confirm these findings.	Control:202:controls;Case:79 obsessive compulsive disorder patients										
138896		hormone concentrations in postmenopausal women	METABOLIC	MET	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Tworoger SS 2004	14744739				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):94-101	Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women.		116790	6977	1	2004	This study provides further evidence that genetic variation may appreciably alter sex hormone concentrations in postmenopausal women not taking hormone therapy.	Cohort 171 postmenopausal women										
138897	Y	smoking cessation	CHEMDEPENDENCY	CHEM		22	22q11.21-q11.23	COMT	18309308	18336530		Colilla et. al., 2005	15900212	Val108/158Met rs4680	The lower activity Met allele of COMT results in a three- to four-fold reduction in COMT activity	coding sequence	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			Susan Colilla	1312	Hs.370408			Pharmacogenetics and genomics. 2005 Jun;15(6):393-8	Association of catechol-O-methyltransferase with smoking cessation in two independent studies of women		116790	6978	1	2005	 This first report of a significant association between COMT Val108/158Met and smoking cessation suggests that COMT variation has an effect on smoking behavior in women.											
138898		schizophrenia; suicide; violent behavior	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Liou, Y. J.  et al. 2001	11150892				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	CDC GDPinfo	1312	Hs.370408			Neuropsychobiology. 2001 Jan;43(1):4-Nov	Association analysis of a functional catechol-o-methyltransferase gene polymorphism in schizophrenic patients in Taiwan.		116790	9472	2	2001	The results failed to show significant association between val158met polymorphism and schizophrenia, violence or suicide. However, our results showed a significant difference in age at disease onset among different genotypes (F = 5.501, p = 0.005).	Control:188:controls;Case:198 Chinese schizophrenic patients										
138900	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	22	22q11.21-q11.23	COMT	18309308	18336530		Cao, L.  et al. 2002	12476424	-287 A/G			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Zhonghua yi xue yi chuan xue za zhi. 2002 Dec;19(6):499-501	[Association study of heroin-dependence and -287 A/G polymorphism of catechol-O-methyltransferase gene]		116790	9474	2	2002	 The results suggested that liability to heroin-dependence was associated with -287 A/G polymorphism of COMT gene.	Control:177 normal controls;Case:268 heroin-dependent subjects										
138901	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Strous, R. D.  et al. 2003	12815735				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):29-34	Aggressive behavior in schizophrenia is associated with the low enzyme activity COMT polymorphism: areplication study.		116790	9475	2	2003	Our findings provide further support that COMT is a modifying gene that plays a role in determining interindividual variability in the proclivity for outward and self-directed aggressive behavior found in some schizophrenic patients.	Cohort patients with schizophrenia 										
138902	Y	suicide; personality disorders	PSYCH	PSY	Personality Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Rujescu, D.  et al. 2003	12842306	Val158Met			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Biological psychiatry. 2003 Jul;54(1):34-9	A functional single nucleotide polymorphism (V158M) in the COMT gene is associated with aggressive personality traits.		116790	9476	2	2003	 These findings support the hypothesis that the functional polymorphism in the COMT gene may modify the phenotype of suicide attempts and anger-related traits. This, however, being a novel finding, should warrant further investigation.	Case:149 German suicide attempters;Control:328 German control subjects										
138904	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Sand, P.  et al. 2004	15570503				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Psychiatrische Praxis. 2004 Nov;31 Suppl 1:S58-60	[No evidence for gender-specific sharing of COMT alleles in schizophrenia]		116790	9478	2	2004	No evidence was obtained for gender bias in allelic patterns, nor did we observe association with schizophrenia (p = 0.4). While studies involving same-sex siblings are lacking, gender-specific sharing of alleles does not appear to be a consistent feature of the COMT variant investigated.	Cohort 307 men and women with schizophrenia 										
138905	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Strous, R. D.  et al. 2005	16233957				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neuroscience letters. 2006 Jan;393(3-Feb):170-3	Analysis of an association between the COMT polymorphism and clinical symptomatology in schizophrenia.		116790	9479	2	2005												
138907	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Garner, E. I.  et al. 2002	12036914				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer research. 2002 Jun;62(11):3058-62	Polymorphisms of the estrogen-metabolizing genes CYP17 and catechol-O-methyltransferase and risk of epithelial ovarian cancer.		116790	9717	2	2002	Possession of the A2 variant of CYP17 appears to increase risk for ovarian cancer, whereas possession of the Val/Met variant of COMT decreases the risk for mucinous tumors. Confirmation in other populations and further exploration of potential pathogenetic mechanisms will be necessary.	Case ovarian cancer cases from a population-based study;Control:controls	oral contraceptive smoking (tobacco)									
138908		cirrhosis; liver cancer; hepatitis C, chronic	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Rossi, L.  et al. 2003	12971967				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Journal of hepatology. 2003 Oct;39(4):564-70	Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients.		116790	9725	2	2003	 CYP17 high-activity alleles associated with increased circulating levels of estrogens and androgens may affect liver cancer risk in HCV-infected women.	Case:387 hepatitis C virus patients (100 asymptomatic carriers, 105 hepatitis, 90 cirrhosis and 92 hepatocellular carcinomas);Control:78 healthy subjects										
138909	Y	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Tan, W.  et al. 2003	14575568				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese		CDC GDPinfo	1312	Hs.370408			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2003 Sep;25(5):453-6	[Relation between single nucleotide polymorphism in estrogen-metabolizing genes COMT, CYP17 and breast cancer risk among Chinese women]		116790	9727	2	2003	 The allele encoding for low activity COMT, but not CYP17, may be a genetic risk factor for breast cancer among Chinese women.	Control:150 frequency-matched controls;Case:250 Chinese breast cancer patients										
138910	N	bone density; height	METABOLIC	MET	Osteoporosis, Postmenopausal|Obesity|Genetic Predisposition to Disease|Thinness	22	22q11.21-q11.23	COMT	18309308	18336530		Tofteng, C. L.  et al. 2004	15129369				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Danish		CDC GDPinfo	1312	Hs.370408			Calcified tissue international. 2004 Aug;75(2):123-32	Two single nucleotide polymorphisms in the CYP17 and COMT Genes--relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy. The Danish Osteoporosis Prevention Study.		116790	9729	2	2004	In conclusion, the A2 allele of the CYP17 T(27)-C polymorphism is associated with reduced bone mass and bone size in lean perimenopausal women, whereas high BMI protects against this negative association. The COMT G(1947)-A polymorphism is not associated with bone parameters in this study.	Cohort 1,795 ecent postmenopausal women, assigned to either hormone replacement therapy (HRT) or no treatment and followed for 5 years 	hormone replacement therapy obesity									
138911		testosterone; estradiol; androstenedione; DHEA; progesterone	METABOLIC	MET		22	22q11.21-q11.23	COMT	18309308	18336530		Garcia-Closas, M.  et al. 2002	12385014				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			International journal of cancer. Journal international du cancer. 2002 Nov;102(2):172-8	Relationship between serum hormone concentrations, reproductive history, alcohol consumption and genetic polymorphisms in pre-menopausal women.		116790	9751	2	2002	Our data suggest that circulating levels of progesterone might be related to parity and alcohol consumption, however the biological plausibility of the observed associations is unclear. We found little support for an influence of the evaluated genetic polymorphisms in the steroid synthesis and metabolism pathway on serum hormone levels, except for a possible effect of the CYP1B1 L432V and S453N polymorphisms on serum estradiol levels. Copyright 2002 Wiley-Liss, Inc.	Cohort 218 pre-menopausal women from Kaiser Permanente Health Plan Portland, Oregon 	alcohol									
138912		sex hormones	METABOLIC	MET	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Tworoger, S. S.  et al. 2004	14744739				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):94-101	Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women.		116790	9757	2	2004	This study provides further evidence that genetic variation may appreciably alter sex hormone concentrations in postmenopausal women not taking hormone therapy.	Cohort 171 postmenopausal women 										
138913	Y	hormone disturbance	METABOLIC	MET	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Dunning, A. M.  et al. 2004	15199113				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		England	CDC GDPinfo	1312	Hs.370408			Journal of the National Cancer Institute. 2004 Jun;96(12):936-45	Polymorphisms associated with circulating sex hormone levels in postmenopausal women.		116790	9763	2	2004	 Genetic variation in CYP19 and SHBG contributes to variance in circulating hormone levels between postmenopausal women, but low r2 values may explain why these genes have given inconclusive results in breast cancer case-control studies.	Control:controls;Case breast cancer cases:Cohort:1,975 normal postmenopausal women										
138914		breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Hefler, L. A.  et al. 2004	15241822				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		116790	9765	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
138915		menopause	REPRODUCTION	REP		22	22q11.21-q11.23	COMT	18309308	18336530		Hefler, L. A.  et al. 2005	15774541				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDPinfo	1312	Hs.370408			Human reproduction (Oxford, England). 2005 May;20(5):1422-7	Estrogen-metabolizing gene polymorphisms and age at natural menopause in Caucasian women		116790	9768	2	2005	 We present the most comprehensive data on estrogen-metabolizing gene polymorphisms and timing of natural menopause to date. The number of full-term pregnancies and the CYP1B1-4 polymorphism are significant predictors of timing of natural menopause in Caucasian women.	Cohort 1,360 Caucasian women with natural menopause 										
138917		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Huber, A.  et al. 2005	16260521				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		116790	9775	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
138918		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Yin, P. H.  et al. 2004	15341023				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	CDC GDPinfo	1312	Hs.370408			Cancer letters. 2004 Aug;212(2):195-201	Polymorphisms of estrogen-metabolizing genes and risk of hepatocellular carcinoma in Taiwan females		116790	9784	2	2004	These findings strongly suggest that estrogen play a critical role in female hepatocarcinogenesis.	Case hepatocellular carcinoma patients:Taiwan;Control:controls										
138919		estrogen	UNKNOWN	UNK	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Lurie, G.  et al. 2005	15941966				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1521-7	Association of genetic polymorphisms with serum estrogens measured multiple times during a 2-year period in premenopausal women.		116790	9815	2	2005												
138920		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Kocabas, N. A.  et al. 2002	12415427				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Turkish		CDC GDPinfo	1312	Hs.370408			Archives of toxicology. 2002 Nov;76(11):643-9	Cytochrome P450 CYP1B1 and catechol O-methyltransferase (COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population.		116790	9827	2	2002	We conclude that  the CYP1B1* 3 allele appears to be a factor for susceptibility to breast cancer in Turkish women especially those with a BMI greater than 24 kg/m(2).	Control:103 healthy unrelated women;Case:84 breast cancer patients:Turkey										
138921		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Disease Susceptibility	22	22q11.21-q11.23	COMT	18309308	18336530		McGrath, M.  et al. 2003	14656940				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Carcinogenesis. 2004 Apr;25(4):559-65	Cytochrome P450 1B1 and catechol-O-methyltransferase polymorphisms and endometrial cancer susceptibility.		116790	9831	2	2003	Our data suggest, that the CYP1B1 Ser allele may decrease endometrial cancer risk by altering the production of catechol estrogens. However, further studies are warranted to elucidate the role of CYP1B1 in endometrial cancer.	Case:222 cases of endometrial cancer nested within the Nurses' Healthy Study;Control:666:controls	body mass hormone replacement therapy smoking (tobacco)									
138922		breast cancer; endometrial cancer	CANCER	CAN	Breast Neoplasms|Endometrial Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530			15285606				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Molekuliarnaia biologiia. 2004 May-Jun;38(3):386-93	[Polymorphisms of CYP1B1 and COMT in breast and endometrial cancer]		116790	9838	2	2004	Risk of endometrial, but not breast, cancer was significantly higher in carriers of CYP1B1 genotype Val432/Val. This was explained by stronger estrogen dependence and, consequently, higher estrogen reactivity of the endometrium as compared with the mammary gland.	Control:152 healthy women;Case:210/138 breast cancer (n=210) and endometrial cancer:(n=138) patients										
138923	N	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Wen, W.  et al. 2005	15734954				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese		CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):329-35	Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: resultsfrom the shanghai breast cancer study and a meta-analysis.		116790	9840	2	2005	To summarize the findings from this and previous studies. Included in this study were 1,135 incident breast cancer cases diagnosed from August 1996 through March 1998 among female residents of Shanghai and 1,235 randomly selected, age frequency-matched controls from the same general population. The common alleles of the CYP1B1 gene were Arg (79.97%) in codon 48, Ala (80.53%) in codon 119, and Leu (86.57%) in codon 432. The Val allele accounted for 72.46% of the total alleles identified in codon 108/158 of the COMT gene. No overall associations of breast cancer risk were found with any of the single nucleotide polymorphisms described above. This finding was supported by a meta-analysis of all previous published studies. No gene-gene interactions were observed between CYP1B1 and COMT genotypes. The associations of breast cancer risk with factors related to endogenous estrogen exposure, such as years of menstruation and body mass index, were not significantly modified by the CYP1B1 and COMT genotypes. We observed, however, that women who carried one copy of the variant allele in CYP1B1 codons 48 or 119 were less likely to have estrogen receptor-positive breast cancer than those who carried two copies of the corresponding wild-type alleles. The results from this study were consistent with those from most previous studies, indicating no major associations of breast cancer risk with CYP1B1 and COMT polymorphisms.	Case:1,135 incident breast cancer cases:Shanghai, China:Aug, 1996 - Mar, 1998;Control:1,235 randomly selected, age frequency-matched controls from the same general population	body mass menstruation							N		
138924		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		22	22q11.21-q11.23	COMT	18309308	18336530		Almeida, S.  et al. 2005	16130011				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			The pharmacogenomics journal. 2005 ;5(6):346-51	Estrogen-metabolizing gene polymorphisms and lipid levels in women with different hormonal status.		116790	10030	2	2005			hormone replacement therapy									
138925	N	bipolar disorder; major depressive disorder; rapid cycling mood disorder	PSYCH	PSY	Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Cusin, C.  et al. 2002	11992560				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics. 2002 May;114(4):380-90	Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders.		116790	10171	2	2002	Our results suggest that MAO-A, COMT, 5-HT2A, DRD2, and DRD4 gene variants are not involved in susceptibility toward different time courses in mood disorders.	Case:212/338/81 inpatients affected by recurrent mood disorders;Control:663:controls										
138926		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Iwata, Y.  et al. 2003	12497608				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese		CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		116790	10176	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
138927		shyness	UNKNOWN	UNK	Genetic Predisposition to Disease|Anxiety Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Arbelle, S.  et al. 2003	12668354			promoter	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			The American journal of psychiatry. 2003 Apr;160(4):671-6	Relation of shyness in grade school children to the genotype for the long form of the serotonin transporter promoter region polymorphism.		116790	10181	2	2003	 This study provisionally identifies a common genetic polymorphism, 5-HTTLPR, that modestly (effect size=7%) contributed to greater shyness scores in a nonclinical group of second-grade students. These first findings may be relevant to previous reports that have shown an association between the 5-HTTLPR long form and obsessive-compulsive disorder and autism.	Cohort 98 second-grade children 										
138928	Y	menarche; menopause	REPRODUCTION	REP		22	22q11.21-q11.23	COMT	18309308	18336530		Gorai, I.  et al. 2003	12574216				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese		CDC GDPinfo	1312	Hs.370408			The Journal of clinical endocrinology and metabolism. 2003 Feb;88(2):799-803	Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women.		116790	10402	2	2003	The results suggest that the estrogen-metabolizing CYP17 genotype influences age at menarche in healthy postmenopausal Japanese women.	Cohort 317 postmenopausal Japanese women, aged 46 yr and over 		CYP17	A1/A2					Y	menopause	onset of menarche in healthy postmenopausal Japanese women
138929	N	schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Herken, H.  et al. 2003	12711403				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			European psychiatry. 2003 Mar;18(2):77-81	Tardive dyskinesia is not associated with the polymorphisms of 5-HT2A receptor gene, serotonin transporter gene and catechol-o-methyltransferase gene.		116790	11445	2	2003	 Our findings indicated that 5-HT2A receptor gene, 5 HTT gene, and COMT gene polymorphisms were similar in schizophrenia with non-TD, schizophrenia with TD, and healthy controls. These polymorphisms, though, do not help to evaluate the susceptibility to TD.	Case:111/32 unrelated subjects who strictly met DSM-IV criteria for schizophrenia and tardive dyskinesia (n=32);Control:79 healthy unrelated controls										
138930		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Meira-Lima, I.  et al. 2004	15005715				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Genes, brain, and behavior. 2004 Apr;3(2):75-9	Association analysis of the catechol-o-methyltransferase (COMT), serotonin transporter (5-HTT) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive-compulsive disorder.		116790	11459	2	2004	The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample. However, further studies using larger samples and family based methods are recommended to confirm these findings.	Control:202:controls;Case:79 obsessive compulsive disorder patients										
138931		narcolepsy-cataplexy symptoms	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy	22	22q11.21-q11.23	COMT	18309308	18336530		Dauvilliers, Y.  et al. 2001	11443519				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		France	CDC GDPinfo	1312	Hs.370408			Molecular psychiatry. 2001 Jul;6(4):367-72	MAO-A and COMT polymorphisms and gene effects in narcolepsy.		116790	12260	2	2001	In agreement with well-documented pharmacological results in canine narcolepsy, this study reports the first genetic evidence for the critical involvement of the dopaminergic and/or noradrenergic systems in human narcolepsy.	Cohort 97 Caucasians with well-defined narcolepsy-cataplexy 										
138932	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Norton, N.  et al. 2002	12116182				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics. 2002 Jul;114(5):491-6	Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association orepistasis.		116790	12265	2	2002	Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia.	Control:173 controls (COMT genotyping only);Case:177 schizphrenics (COMT genotyping only);Control:334:controls;Case:346:schizophrenics								N		
138933	N	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Johnstone, E. C.  et al. 2002	12360111				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Pharmacogenetics. 2002 Oct;12(7):585-7	Polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers: seekingconfirmation of the association in a follow-up study		116790	12268	2	2002	In conclusion, we cannot confirm earlier finding that genetic variations in enzymes that metabolize dopamine are important in determining the tobacco consumption of smokers. There was a tendency for people with the DBH-1368A allele (which was related to higher tobacco consumption in the exploratory study) to smoke more, but this effect did not reach statistical significance in the larger sample.	Cohort 1,749 smokers from the OXCHECK study 	smoking (tobacco)									
138934	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Zammit, S.  et al. 2004	15211623				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):19-20	Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophrenia		116790	12279	2	2004	These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior.	Cohort 150 individuals Cohort 346 subjects with schizophrenia 								N		
138935	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Matsumoto, C.  et al. 2004	15261699				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Psychiatry research. 2004 Jun;127(2-Jan):7-Jan	Polymorphisms of dopamine degradation enzyme (COMT and MAO) genes and tardive dyskinesia in patients with schizophrenia.		116790	12280	2	2004	Our data, therefore, do not support the hypothesis that polymorphisms in COMT, MAOA, and MAOB genes are involved individually or in combination in the predisposition to TD.	Cohort 206 Japanese patients with schizophrenia 										
138936		anxiety disorder	PSYCH	PSY	Anxiety Disorders|Phobic Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Samochowiec, J.  et al. 2004	15450911				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Psychiatry research. 2004 Aug;128(1):21-6	Association studies of MAO-A, COMT, and 5-HTT genes polymorphisms in patients with anxiety disorders of the phobic spectrum		116790	12283	2	2004	The results support a possible role of the MAO-A gene in anxiety disorders.	Case:101 patients with phobic disorders of the anxiety:spectrum;Control:202 controls matched to the patients for sex, age and:ethnicity										
138937		monoamine metabolites	METABOLIC	MET	Mental Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Zalsman, G.  et al. 2004	15457497			promoter	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):100-3	Relationship of MAO-A promoter (u-VNTR) and COMT (V158M) gene polymorphisms to CSF monoamine metabolites levels in a psychiatric sample of caucasians: A preliminary report.		116790	12284	2	2004	The association of MAOA-uVNTR with dopaminergic activity in males is a preliminary finding that needs to be replicated in a larger sample of Caucasian males and relationships sought with clinical phenotypes.	Cohort 98 Caucasian psychiatric subjects 										
138939	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Hernan, M. A.  et al. 2002	12011284	MAOB intron 13		intron	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		United States	CDC GDPinfo	1312	Hs.370408			Neurology. 2002 May;58(9):1381-7	MAOB intron 13 and COMT codon 158 polymorphisms, cigarette smoking, and the risk of PD		116790	12301	2	2002	 The findings do not support a major role of the MAOB intron 13 polymorphism in the development of PD, either by itself or by interacting with smoking.	Case:214 Caucasian cases from two ongoing prospective cohorts, the Nurses' Health Study and the Health Professionals' Follow-up Study;Control:449 Caucasian controls fro same prospective cohorts, matched on age and study cohort	smoking (tobacco)									
138940		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Bialecka, M.  et al. 2004	15355491				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Acta neurologica Scandinavica. 2004 Oct;110(4):260-6	The effect of monoamine oxidase B (MAOB) and catechol-O-methyltransferase (COMT) polymorphisms on levodopa therapy in patients with sporadic Parkinson's disease		116790	12303	2	2004	 The results of the study suggest that patients with COMT(L/L) genotype and possibly MAOB genotype A may benefit from more efficient and safer levodopa therapy.	Cohort 95 patients (40 females and 55 males) of Polish origin diagnosed with sporadic Parkinson's disease 	levodopa	MAOB	A	COMT	L/L			Y		Patients with COMT(L/L) genotype and MAOB genotype A may benefit from more efficient and safer levodopa therapy
138941		lymphoma; non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	22	22q11.21-q11.23	COMT	18309308	18336530		Skibola, C. F.  et al. 2005	16214922				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		San Francisco	CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Oct;14(10):2391-401	Polymorphisms and haplotypes in the cytochrome P450 17A1, prolactin, and catechol-O-methyltransferase genes and non-Hodgkin lymphoma risk.		116790	13330	2	2005												
138942	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Goudreau, J. L.  et al. 2002	12465073				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Midwestern United States	CDC GDPinfo	1312	Hs.370408			Movement disorders. 2002 Nov;17(6):1305-11	Case-Control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease		116790	13803	2	2002	We found statistically significant associations of PD with MAO-B polymorphisms in older patients and with a COMT polymorphism in younger subjects and in women. These significant differences at the two-tailed alpha level of 0.05 and restricted to subgroup analyses may have a biological basis or may be chance findings.	Control:196 control subjects;Case:319 unrelated Parkinson's disease cases										
138943	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Progression	22	22q11.21-q11.23	COMT	18309308	18336530		Lynch, D. R.  et al. 2003	12815660				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Movement disorders. 2003 Jul;18(7):804-12	Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.		116790	13808	2	2003	These results demonstrate that these specific genetic variations do not alter the fidelity of (99)Tc-TRODAT-1 as a measure of dopaminergic function in asymptomatic volunteer individuals or patients with PD.	Case patients with Parkinsons' disease;Control asymptomatic volunteers										
138944		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Cavallini, M. C.  et al. 2000	11166081				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Psychiatry research. 2000 Dec;97(3-Feb):93-100	An association study between 5-HTTLPR polymorphism, COMT polymorphism, and Tourette's syndrome.		116790	13834	2	2000	The lack of significance for 5-HTTLPR and COMT polymorphisms in conferring liability to TS does not exclude a role of different functional polymorphisms in genes coding for serotonergic or dopaminergic structures in the etiology of TS. In fact, TS is a complex disorder and these genes most likely have only a minor genetic effect in its etiology.	Case:52 Tourette syndrome patients;Control:63 heatlhy individuals										
138945	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Han, D. H.  et al. 2004	15572182			promoter	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Korean		CDC GDPinfo	1312	Hs.370408			Psychiatry research. 2004 Nov;129(1):29-37	Association of aggressive behavior in Korean male schizophrenic patients with polymorphisms in the serotonin transporter promoter and catecholamine-O-methyltransferase genes.		116790	13939	2	2004	Thus, the COMT gene is associated with the severity of aggression and with physical aggression against other people, whereas the 5-HTTPR gene is associated with the summary score of all episodes of aggression.	Control:158 unrelated male subjects with no lifetime history of psychiatric disorders ascertained through two psychiatric hospital staff and medical university:students;Case:168 unrelated male schizophrenic patients										
138946		alexithymia	UNKNOWN	UNK		22	22q11.21-q11.23	COMT	18309308	18336530		Ham, B. J.  et al. 2005	16127282				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neuropsychobiology. 2005 ;52(3):151-4	Association between the catechol O-methyltransferase Val108/158Met polymorphism and alexithymia.		116790	13971	2	2005												
138948		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Kocabas, N. A.  et al. 2005	15386537				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Turkey	CDC GDPinfo	1312	Hs.370408			Cell biochemistry and function. 2005 Jan-Feb;23(1):73-6	Genetic polymorphism of manganese superoxide dismutase (MnSOD) and breast cancer susceptibility.		116790	14029	2	2005												
138950		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Saintot, M.  et al. 2003	14520706				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):652-7	Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1, catechol-o-methyltransferase and tobacco exposure in breast cancer risk		116790	14109	2	2003	Our study showed that gene polymorphisms of CYP1B1 and SULT1A1 induce an individual susceptibility to breast cancer among current smokers.	Case:282 women with breast cancer	smoking (tobacco)									
138951		ovarian cancer	CANCER	CAN	Carcinoma|Ovarian Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Sellers, T. A.  et al. 2005	16284375				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2536-43	Estrogen bioactivation, genetic polymorphisms, and ovarian cancer.		116790	14119	2	2005												
138952		personality traits	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530			16360899				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neuroscience research. 2005	Combined analysis of association between personality traits and three functional polymorphisms in the tyrosine hydroxylase, monoamine oxidase A, and catechol-O-methyltransferase genes		116790	14238	2	2005												
138953	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder|Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Rotondo, A.  et al. 2002	11772685				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Italy	CDC GDPinfo	1312	Hs.370408			The American journal of psychiatry. 2002 Jan;159(1):23-9	Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder.		116790	14477	2	2002	 The findings support the hypothesis that comorbid panic disorder identifies a genetic subtype of bipolar disorder and suggest a role for COMT and 5-HTT in vulnerability to these disorders.	Control:127 healthy subjects;Control:49 unrelated subjects of Italian descent with bipolar disorder without comorbid lifetime panic disorder;Case:49 unrelated subjects of Italian descent with bipolar disorder with comorbid lifetime panic disorder										
138955	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Shifman, S.  et al. 2002	12402217				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of human genetics. 2002 Dec;71(6):1296-302	A highly significant association between a COMT haplotype and schizophrenia.		116790	15878	2	2002	We found a highly significant association between schizophrenia and a COMT haplotype (P=9.5x10-8). The approach presented can be widely implemented for the genetic dissection of other common diseases.											
138956	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	22	22q11.21-q11.23	COMT	18309308	18336530		Cao, L.  et al. 2003	12673581				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):127-30	[Association study of heroin dependence and catechol-O-methyltransferase gene]		116790	15879	2	2003	 The results suggested that neither 108 val/met polymorphism nor 900 Ins C/Del C polymorphism of COMT gene was associated with heroin dependence.	Control:214 normal controls;Case:313 heroin-dependent subjects										
138957	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Lin, S. C.  et al. 2005	15901995				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			European journal of cancer prevention. 2005 Jun;14(3):257-61	Genetic variants of myeloperoxidase and catechol-O-methyltransferase and breast cancer risk.		116790	15880	2	2005	Our results demonstrate that the MPO A/A genotype was associated with a reduced risk of breast cancer (odds ratio (OR) 0.64; 95% confidence interval (CI) 0.11-3.76), whereas there was no overall association of COMT genotype with breast cancer. Of note, an elevated breast cancer risk associated with the increasing numbers of high-risk genotypes of MPO and COMT genes was observed in women with a longer duration between menarche and first full-term pregnancy.	Case Chinese breast cancer cases;Control:controls	menarche pregnancy									
138958	Y	estradiol; sex hormone binding globulin	UNKNOWN	UNK	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Low, Y. L.  et al. 2005	15668497				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Europe	CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Jan;14(1):213-20	Phytoestrogen exposure correlation with plasma estradiol in postmenopausal women in European Prospective Investigation of Cancer and Nutrition-Norfolk may involve diet-gene interactions.		116790	15996	2	2005	We conclude that  higher isoflavone exposure is associated with lower plasma estradiol in postmenopausal women and that this preliminary study is suggestive of the involvement of diet-gene interactions.	Cohort 125 free-living postmenopausal women taking part in a cohort study (European Prospective Investigation of Cancer and Nutrition-Norfolk) 	isoflavones phytoestrogen									
138959		mammographic density	OTHER	OTH	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Maskarinec, G.  et al. 2004	15382051				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):683-8	An investigation of mammographic density and gene variants in healthy women.		116790	16017	2	2004	Our data suggest lower mammographic density for women carrying the COMT and CYP1A2 variant alleles than for women carrying the common alleles, though this is the opposite of what is commonly hypothesized from the enzyme function.	Cohort 328 healthy women of different ethnicities 										
138960		substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Vandenbergh, D. J.  et al. 2000	11054777				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics. 2000 Oct;96(5):678-83	Long forms of the dopamine receptor (DRD4) gene VNTR are more prevalent in substance abusers: nointeraction with functional alleles of the catechol-o-methyltransferase (COMT) gene.	rs4680	116790	16379	2	2000	There is no difference in DRD3 allele frequencies in these samples, and there is no interaction of DRD4 alleles with those of the catecholamine-o-methyl- transferase gene (COMT) that we previously identified to be more frequent in substance abusers than controls [Vandenbergh, et	Case individuals with high quantity/frequency of drug:use;Control:controls								N		
138961		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Li, T.  et al. 2004	15274053				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Aug;129(1):120-4	Association analysis of the DRD4 and COMT genes in methamphetamine abuse.		116790	16407	2	2004	We conclude that  genetic variation in the dopamine system may encode an additive effect on risk of becoming a methamphetamine abuser.	Case:416 Han Chinese methamphetamine abusing subjects:Taiwan;Control:435 normal controls		COMT	158 Val/Met	DRD4	48-bp VNTR	DRD4	120 bp promoter	Y		methamphetamine abuse
138962		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530			16281377				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2005 ;105(10):35-41	[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives]		116790	16428	2	2005												
138963		schizophrenia	PSYCH	PSY	Psychotic Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Yamanouchi, Y.  et al. 2003	14610521				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese		CDC GDPinfo	1312	Hs.370408			The pharmacogenomics journal. 2003 ;3(6):356-61	Effect of DRD2, 5-HT2A, and COMT genes on antipsychotic response to risperidone.		116790	17581	2	2003	These results should be treated with caution because of limitations due to small sample size, heterogeneity of patients with respect to past antipsychotic use history, and no correction for multiple corrections. However, the present findings generate important hypotheses in a sample of Japanese schizophrenia patients that may lay the foundation for future pharmacogenomics investigations in other populations.	Cohort 73 Japanese patients with schizophrenia 	risperidone									
138964		personality traits	PSYCH	PSY	Hallucinations|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Ott, U.  et al. 2005	15965969				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):29-32	Evidence for a common biological basis of the absorption trait, hallucinogen effects, and positive symptoms: Epistasis between 5-HT2a andCOMT polymorphisms.		116790	17589	2	2005												
138965		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Zhang, M.  et al. 2003	12579508				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese		CDC GDPinfo	1312	Hs.370408			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):69-71	[Associations between six functional genes and schizophrenia]		116790	17611	2	2003	 The 480 bp allele of DAT1 gene is negatively associated with schizophrenia in Chinese Han population, which stands for the dopamine hypothesis of schizophrenia.	Control:controls;Case:67 Chinese Han schizophrenic patients										
138966	N	bipolar disorder; major depressive disorder	PSYCH	PSY	Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Serretti, A.  et al. 2002	11992559				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3variants.		116790	18115	2	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months 	lithium									
138967	Y	neuroticism	PSYCH	PSY	Diseases in Twins|Neurotic Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Eley, T. C.  et al. 2003	12815746				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jul;120(1):90-6	Association analysis of MAOA and COMT with neuroticism assessed by peers.		116790	18126	2	2003	We found weak evidence for association with COMT genotype, when the females and males were considered separately, and for MAOA genotype in males only. There was no significant interaction between COMT and MAOA.	Case:57 individuals of 2,085 scoring the top 10% on a neruoticism peer- reported questionnaire;Control:62 individuals of 2,085 scoring the bottom 10% on a neruoticism peer- reported questionnaire		COMT		MAOA				Y		obsessive-compulsive disorder and bipolar depression
138968	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Illi, A.  et al. 2003	14520117				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Journal of clinical psychopharmacology. 2003 Oct;23(5):429-34	Catechol-O-methyltransferase and monoamine oxidase A genotypes and drug response to conventional neuroleptics in schizophrenia.		116790	18128	2	2003	The whole population of patients with schizophrenia did not differ from the controls.The low-activity catechol-O-methyltransferase genotype may be associated with unsatisfactory drug response to conventional neuroleptics or alternatively be involved in a subset of schizophrenics. The role of monoamine oxidase A genotype seems to be additive in this respect.	Control:94 age-matched and gender-matched blood donors;Case:94 schizophrenic patients	neuroleptic response									
138969	N	suicide	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		De Luca, V.  et al. 2005	15936529				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neuroscience letters. 2005 Jul;383(2-Jan):151-4	Gene-gene interaction between MAOA and COMT in suicidal behavior.		116790	18132	2	2005	These findings suggest that MAOA and COMT genes may not influence suicidal behavior in patients with bipolar disorder.	Cohort 305 families with at least one member having bipolar disorder 										
138970	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Bialecka, M.  et al. 2005	15753616				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Polish	Poland	CDC GDPinfo	1312	Hs.370408			European neurology. 2005 ;53(2):68-73	Catechol-O-methyltransferase and monoamine oxidase B genes and susceptibility to sporadic Parkinson's disease in a Polish population.		116790	18139	2	2005	The combined haplotype of the MAOB G (G/G) and COMT(HL) genotype showed a fourfold increase (p < 0.05) in the risk of PD in female patients in this Polish population.	Control:152 healthy controls;Case:210 Polish patients with sporadic Parkinsons' disease		MAOB	G (G/G)	COMT	HL			Y		Increased risk of Parkinson's disease in Polish females
138971	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Anttila, S.  et al. 2004	15115916				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Pharmacogenetics. 2004 May;14(5):303-7	Interaction between NOTCH4 and catechol-O-methyltransferase genotypes in schizophrenia patients with poor response to typical neuroleptics.		116790	18674	2	2004	 Our results suggest that an interaction between COMT and NOTCH4 genotypes may predict the treatment response to typical neuroleptics in patients with schizophrenia.	Case:94 Finnish patients with schizophrenia:Finland;Control:98:controls	neuroleptic response	COMT		NOTCH4				Y	In response to typical neuroleptics	schizophrenia
138973		hyperhomocysteinemia	METABOLIC	MET	Hyperhomocysteinemia|Folic Acid Deficiency|Vitamin B 12 Deficiency	22	22q11.21-q11.23	COMT	18309308	18336530		Geisel, J.  et al. 2003	14656021				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Clinical chemistry and laboratory medicine. 2003 Nov;41(11):1427-34	The role of genetic factors in the development of hyperhomocysteinemia.		116790	20047	2	2003	In conclusion, the study on vegetarians and seniors documents interesting lifestyle-genotype interactions. Although the TC and COMT mutations influence cellular vitamin B12 metabolism, this effect did not result in overt homocysteine elevation.	Cohort 111/118 										
138974		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Takase, K.  et al. 2001	11705709				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Japan	CDC GDPinfo	1312	Hs.370408			Schizophrenia research. 2001 Dec;52(3):161-5	Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.		116790	20222	2	2001	These findings suggest that the ZNF74 gene plays a role as one of the modifying factors for schizophrenia.	Case:300:schizophrenics:Japan;Control:300 controls not further specified in abstract										
138975		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Le Marchand, L.  et al. 2005	16103451				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		116790	20823	2	2003												
138977	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia, Paranoid	22	22q11.21-q11.23	COMT	18309308	18336530		Xu, Q.  et al. 2004	14745454				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Molecular psychiatry. 2004 May;9(5):510-21	Association study of an SNP combination pattern in the dopaminergic pathway in paranoid schizophrenia:a novel strategy for complex disorders.		116790	20826	2	2004	The present findings suggest that the COMT and ALDH3 combination may be the most common type involved in predisposing to schizophrenia. Since the combination blocks the whole pathways for the breakdown of DA and noradrenaline, it is very likely to play a central role in developing paranoid schizophrenia.	Control:108 normal controls with detailed clinical and genetic:information;Case:83 paranoid schizophrenics										
138978		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Sun, X.  et al. 2005	16092759				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Science in China Series C, Life sciences. 2005 Jun;48(3):263-9	Multi-locus association study of schizophrenia susceptibility genes with a posterior probability method.		116790	20827	2	2005												
138979	N	Parkinson's disease; dementia; hallucinations	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Hallucinations|Postmortem Changes	22	22q11.21-q11.23	COMT	18309308	18336530		Camicioli, R.  et al. 2005	15852364				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Movement disorders. 2005 Aug;20(8):989-94	Apolipoprotein E epsilon4 and catechol-O-methyltransferase alleles in autopsy-proven Parkinson's disease: relationship todementia and hallucinations.		116790	20828	2	2005	In Cox regression models adjusting for AO and duration of treatment, increased risk of dementia was associated with male sex but not significantly with ApoE4; inclusion of AP in the model did not affect the results; COMT was not a risk factor for dementia. Psychosis risk was not associated with ApoE4, COMT, or sex. The observation that males have increased dementia risk and the trend for ApoE4 requires confirmation in larger prospective autopsy studies.	Cohort 47 autopsy-confirmed subjects (33 men, 14 women) with Parkinson's disease; onset at 62.4 +/- 8.7 years of age and died at 77.8 +/- 5.6 years of age 										
138980		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Wang, P. N.  et al. 2004	15591802				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	CDC GDPinfo	1312	Hs.370408			Dementia and geriatric cognitive disorders. 2005 ;19(3-Feb):120-5	Estrogen-metabolizing gene COMT polymorphism synergistic APOE epsilon4 allele increases the risk of Alzheimer disease.		116790	20829	2	2004	Further studies to clarify this interaction may improve our understanding of the generic risks for AD.	Case:66 patients with Alzheimer's disease;Control:86 age- and gender-matched normal subjects										
138981	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Eerola, J.  et al. 2002	12270650				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Finnish	Finland	CDC GDPinfo	1312	Hs.370408			Neuroscience letters. 2002 Sep;330(3):296-8	Apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes and susceptibility to sporadic Parkinson's disease in Finland.		116790	20830	2	2002	None of these polymorphisms showed association with PD in our series. In contrast to reports in oriental populations, our results do not support a major role of APOE, PARKIN and COMT polymorphisms in PD susceptibility in the Finnish population.	Control:137:controls;Case:147 Finnish non-demented patients with sporadic PD										
138983		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Haiman, C. A.  et al. 2003	12602902				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		116790	20832	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
138984		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Comings, D. E.  et al. 2003	12712467				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		116790	20833	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
138985		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	22	22q11.21-q11.23	COMT	18309308	18336530		Wieczorek, S.  et al. 2004	15309313				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Journal of molecular medicine (Berlin, Germany). 2004 Oct;82(10):696-705	Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA.		116790	20834	2	2004	These results, although exploratory and still to be confirmed in independent samples, support a complex pathogenetic model for narcolepsy, including disturbances of neurotransmission rather than involvement of autoimmunity.	Cohort 254 narcolepsy subjects 										
138987	N	memory impairment; psychoses	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease|Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Strauss, J.  et al. 2004	15626819				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neuromolecular medicine. 2004 ;5(3):181-92	BDNF and COMT polymorphisms: relation to memoryphenotypes in young adults with childhood-onset mood disorder.		116790	20836	2	2004	This study did not provide evidence supporting an association between BDNF and COMT genes and declarative memory phenotypes.	Cohort 63 young adults with a history of childhood-onset mood disorder 										
138988		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Lerman, C.  et al. 2003	12627466				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		116790	20837	2	2003	Review article											
138989		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Landi, S.  et al. 2005	16006997				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		116790	24156	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
138990		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Liu, Y.  et al. 2005	15654505				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese	Japan	CDC GDPinfo	1312	Hs.370408			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		116790	24157	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
138991	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	22	22q11.21-q11.23	COMT	18309308	18336530		Bobb, A. J.  et al. 2005	15717291				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		116790	24158	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
138992		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Goode, E. L.  et al. 2002	12036913				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		116790	27691	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
138993	Y	heteroallelic ceruloplasmin gene mutation	OTHER	OTH	Cerebellar Ataxia	3	3q23-q25	CP	150373221	150422519		Miyajima H et al. 2001	11756598				Ceruloplasmin (ferroxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000096.1			KGB	1356	Hs.558314			Neurology. 2001 Dec;57(12):2205-10	Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation.		117700	6879	1	2001	 Cerebellar ataxia reflects the site of iron deposition. Being heterozygous for mutation of the ceruloplasmin gene may result in cerebellar ataxia.											
138996		depression	PSYCH	PSY	Depressive Disorder	7	7p15.1	CRHR2	30658724	30706244		Villafuerte, S. M.  et al. 2002	11857585				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2	Swedish		CDC GDPinfo	1395	Hs.546246			American journal of medical genetics. 2002 Mar;114(2):222-6	Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression.		602034	15893	2	2002	The cSNP did show allelic and genotypic association with borderline significance (P[?]=[?]0.04). However, a replication study of this cSNP in a bipolar sample of Belgian origin and a Swedish UP sample did not show significant differences in allele and genotype frequencies.	Case unipola patients:Belgium;Control age-, gender-, and ethnicity-matched controls.										
138997		Alzheimer's disease; Parkinson's disease; insulin; lung function; depression; longevity	NEUROLOGICAL	NEUR		3	3q23-q25	CP	150373221	150422519		Scheil, H. G.  et al. 2004	15648851				Ceruloplasmin (ferroxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000096.1			CDC GDPinfo	1356	Hs.558314			Anthropol Anz. 2004 Dec;62(4):429-34	Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.		117700	25886	2	2004	This indicates that in the present case the serum protein polymorphisms give no clearly defined information about the relationships between the Balkan populations and to the origin of Aromuns.	Cohort individuals from two samples of Aromuns and one reference sample (Musequiar-Aromuns from Dukasi in Albania, Moskopolian-Aromuns from Krusevo, Republic of Macedonia, and Macedonians from Skopje) Balkans 										
138998	Y	vascular disease	CARDIOVASCULAR	CARD		2	2q35	CPS1	211129582	211252076		Summar, M. L.  et al. 2004	14718356				Carbamoyl-phosphate synthetase 1, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001875.2			CDC GDPinfo	1373	Hs.149252			Hypertension. 2004 Feb;43(2):186-91	Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function		608307	15883	2	2004	These data indicate that a polymorphism in the gene encoding carbamoyl-phosphate synthetase 1 influences nitric oxide production as well as vascular smooth muscle reactivity.	Cohort 106 healthy subjects 										
138999		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	22	22q13.33	CPT1B	49354155	49364802		Tripodi, G.  et al. 2005	15647998				Choline kinase beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004377.2			CDC GDPinfo	1375	Hs.439777			Journal of renal nutrition. 2005 Jan;15(1):7-Feb	Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.		601987	20838	2	2005	 These results identify the carnitine-transporter gene family as candidate modifiers of LVMI in human hypertension. The use of common SNPs to define informative haplotypes associated with the phenotype of interest is the starting point for progress toward identification of the trapped contributing SNP(s).	Cohort 215 never-treated, middle-aged patients with mild essential hypertension 										
139000		childhood-onset mood disorders	PSYCH	PSY	Mood Disorders	2	2q34	CREB1	208102930	208171815		Burcescu, I.  et al. 2005	15999345				CAMP responsive element binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004379.2			CDC GDPinfo	1385	Hs.584750			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):45-50	Association study of CREB1 and childhood-onset mood disorders.		123810	15886	2	2005												
139001		asthma	IMMUNE	IMM	Asthma	2	2q34	CREB1	208102930	208171815		Dewar, J. C.  et al. 2003	12724032				CAMP responsive element binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004379.2		Great Britain	CDC GDPinfo	1385	Hs.584750			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		123810	27692	2	2003	Review article											
139004		diabetes, type 2	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2	6	7p14.3	CYB5R4	84626088	84726865		Andersen, G.  et al. 2004	15504981				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016230.3			CDC GDPinfo	1395	Hs.5741			Diabetes. 2004 Nov;53(11):2992-7	Variation in NCB5OR: Studies of Relationships toType 2 Diabetes, Maturity-Onset Diabetes of the Young, and Gestational Diabetes Mellitus		608343	15960	2	2004	Thus, variation in the coding region of NCB5OR is not a major contributor in the pathogenesis of nonautoimmune diabetes.	Control:529 subjects with normal glucose tolerance;Case:717 type 2 diabetic patients										
139005	N	obesity	METABOLIC	MET	Obesity	7	7p15.1	CRHR2	30658724	30706244		Challis, B. G.  et al. 2004	14724656				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2			CDC GDPinfo	1395	Hs.546246			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):442-6	Genetic variation in the corticotrophin-releasing factor receptors: identification ofsingle-nucleotide polymorphisms and association studies with obesity in UK Caucasians		602034	20840	2	2004	 Mutations in the coding sequence of the CRF-R1 and CRF-R2 genes are unlikely to be a common monogenic cause of early-onset obesity. In an adult UK Caucasian population, the CRF-R1 C861T polymorphism is associated with increased BMI.	Cohort Caucasians from a population-based cohort UK 										
139006	Y	range of clinical phenotypes	OTHER	OTH	Retinitis Pigmentosa|Retinal Diseases	19	19q13.3	CRX	53016910	53038393		Sohocki MM et al. 1998	9792858				Cone-rod homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000554.3			KGB	1406	Hs.617342			American journal of human genetics. 1998 Nov;63(5):1307-15	A range of clinical phenotypes associated with mutations in CRX a photoreceptor transcription-factor gene.		602225	6901	1	1998	These findings imply that CRX mutations may be associated with a wide range of clinical phenotypes, including congenital retinal dystrophy (Leber) and progressive diseases such as cone-rod dystrophy or retinitis pigmentosa, with a wide range of onset.											
139007	Y	Leber congenital amaurosis and a normal ocular phenotype	OTHER	OTH	Optic Atrophies, Hereditary|Blindness	19	19q13.3	CRX	53016910	53038393		Silva E et al. 2000	10892846				Cone-rod homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000554.3			KGB	1406	Hs.617342			Investigative ophthalmology & visual science. 2000 Jul;41(8):2076-9	A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.		602225	6902	1	2000	 These results strongly suggest that haploinsufficiency of CRX is not sufficient to cause a retinal disorder. Loss of function alleles of CRX appear to cause Leber congenital amaurosis through a recessive or multigenic mechanism.											
139008	Y	CYP2A6 poor metabolizer phenotype	METABOLIC	MET				CYP2A				Nunoya K et al. 1999	10423536				cytochrome P450, family 2, subfamily A				KGB	1546				J Biochem (Tokyo)	Homologous unequal cross-over within the human CYP2A gene cluster as a mechanism for the deletion of the entire CYP2A6 gene associated with the poor metabolizer phenotype.		123960	1600	1	1999												
139010		nasopharyngeal cancer	CANCER	CAN		19	19q13.2	CYP2A13	46286207	46293939		Zhang, X.  et al. 2002	12130698				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3			CDC GDPinfo	1553	Hs.567252			The Journal of pharmacology and experimental therapeutics. 2002 Aug;302(2):416-23	Genetic polymorphisms of the human CYP2A13 gene:identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant.		608055	9847	2	2002	The frequencies of the Arg257Cys allele in white, black, Hispanic, and Asian individuals are 1.9%, 14.4%, 5.8%, and 7.7%, respectively.	Cohort 100 individuals 										
139011		nasopharyngeal cancer	CANCER	CAN		19	19q13.2	CYP2A13	46286207	46293939		Zhang, X.  et al. 2003	12920161				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3	Chinese		CDC GDPinfo	1553	Hs.567252			Drug metabolism and disposition:  the biological fate of chemicals. 2003 Sep;31(9):1081-5	Single nucleotide polymorphisms of the human cyp2a13 gene: evidence for a null allele.		608055	9848	2	2003	The frequency of the Arg25Gln mutation in Asian newborns (9.6%) was very similar to that found in the Chinese population (10.9%). On the other hand, the Arg101Stop mutation was not detected in 136 newborn samples examined (23 white, 21 black, 19 Hispanic, and 73 Asian), suggesting that this mutation may be unique for the Chinese patient population. Haplotype analysis indicated that the Arg25Gln and Arg257Cys mutations are parts of a common haplotype. However, an additional haplotype that consists of the 25Gln but not the 257Cys allele was also identified.	Cohort a random samples of white, black, Hispanic, and Asian newborns New York 										
139012	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A13	46286207	46293939		Wang, H.  et al. 2003	14633739				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3			CDC GDPinfo	1553	Hs.567252			Cancer research. 2003 Nov;63(22):8057-61	Substantial reduction in risk of lung adenocarcinoma associated with genetic polymorphism in CYP2A13, the most active cytochrome P450 for the metabolic activation of tobacco-specific carcinogen NNK.		608055	9849	2	2003	Our results demonstrate for the first time that the variant CYP2A13 allele is associated with reduced risk of lung adenocarcinoma, suggesting the role of NNK-CYP2A13 interaction as a causative factor for the cancer.	Case:724 patients with lung cancer;Control:791:controls	smoking (tobacco)									
139013		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A13	46286207	46293939		Cauffiez, C.  et al. 2004	15063809				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3	French	France	CDC GDPinfo	1553	Hs.567252			Biochemical and biophysical research communications. 2004 Apr;317(2):662-9	Genetic polymorphism of the human cytochrome CYP2A13 in a French population: implication in lungcancer susceptibility.		608055	9850	2	2004	The CYP2A13*7 allele, which harbours the C301T mutation, was present in 2.0% of controls and 3.4% of cases. However, multivariate analysis showed an elevated risk for small cell lung cancer in subjects heterozygous for the null allele (odds ratio OR=9.9; 95% confidence interval CI=1.9-52.2). This increased risk was not linked to other histological types of lung cancer.	Case:204 lung cancer cases;Control:cont:201:controls										
139014		emphysema	CARDIOVASCULAR	CARD		19	19q13.2	CYP2A13	46286207	46293939		Cheng, X. Y.  et al. 2004	15115698	Arg257Cys			Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3	Chinese		CDC GDPinfo	1553	Hs.567252			Clinica chimica acta; international journal of clinical chemistry. 2004 May;343(2-Jan):213-6	Arg257Cys polymorphism of CYP2A13 in a Chinese population.		608055	9851	2	2004	 The CYP2A13 Arg257Cys variant represents a common polymorphism in Chinese, with the 257Cys allele frequency being similar to the Hispanic and Asian groups, but significantly lower than the Black.	Cohort 258 healthy Chinese Han volunteers 										
139015	N	nasopharyngeal cancer	CANCER	CAN		19	19q13.2	CYP2A13	46286207	46293939		Jiang, J. H.  et al. 2004	15222883				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3			CDC GDPinfo	1553	Hs.567252			J Transl Med    2004    2    24	Genetic polymorphisms of CYP2A13 and its relationship to nasopharyngeal carcinoma in the Cantonese population.		608055	9852	2	2004	A novel haplotype consisting 8 SNPs in intron, and four additional novel SNPs were identified; but no correlation between CYP2A13 genetic polymorphism and individual susceptibility to NPC was observed.	Control:controls;Case Cantonese nasopharyngeal cancer patients										
139016		emphysema	CARDIOVASCULAR	CARD	Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A13	46286207	46293939			16316926				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3	French, Tunisian, Gabonese		CDC GDPinfo	1553	Hs.567252			Xenobiotica; the fate of foreign compounds in biological systems. 2005 Jul;35(7):661-9	CYP2A13 genetic polymorphism in French Caucasian, Gabonese and Tunisian populations		608055	9853	2	2005												
139017		CYP2A6	METABOLIC	MET		19	19q13.2	CYP2B	46122010	46148403		Ariyoshi, N.  et al. 2001	11243870				cytochrome P450, family 2, subfamily B		Japanese		CDC GDPinfo	1554				Biochemical and biophysical research communications. 2001 Mar;281(5):1256-60	A Single Nucleotide Polymorphism of CYP2B6 Found in Japanese Enhances Catalytic Activity by Autoactivation		123930	9875	2	2001	The frequency of the variant allele was found to be 19.9% in Japanese.	Cohort Japanese individuals 										
139018		liver function	OTHER	OTH		19	19q13.2	CYP2B	46122010	46148403		Lang, T.  et al. 2001	11470993				cytochrome P450, family 2, subfamily B				CDC GDPinfo	1554				Pharmacogenetics. 2001 Jul;11(5):399-415	Extensive genetic polymorphism in the human CYP2B6 gene with impact on expression and function in human liver		123930	20978	2	2001	These data demonstrate that the extensive interindividual variability of CYP2B6 expression and function is not only due to regulatory phenomena, but also caused by a common genetic polymorphism.	a large number of liver samples Cohort 215 subject, not otherwise described 										
139019	Y	drug oxidation	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Hanioka N et al. 1990	1978565			splice variant	cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			American journal of human genetics. 1990 Dec;47(6):994-1001	The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.		124030	1614	1	1990												
139020	Y	CYP2D7/CYP2D6 poor metabolizer phenotype.	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Panserat S et al. 1995	8554938				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			British journal of clinical pharmacology. 1995 Oct;40(4):361-7	An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype.		124030	1615	1	1995												
139021	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	22	22q13.1	CYP2D6	40852444	40856827		Tanaka S et al. 1998	9633694				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Neurology. 1998 Jun;50(6):1556-62	Association of CYP2D microsatellite polymorphism with Lewy body variant of Alzheimer's disease.		124030	1616	1	1998	 The CYP2D locus is closely associated with LBV and PD. The CYP2D6 B mutation may be involved in pathogenesis of LBV and PD in a dominant-negative manner, or in the linkage disequilibrium of the CYP2D microsatellite to another pathogenic gene locus.											
139022	N	Human Longevity	AGING	AGE		22	22q13.1	CYP2D6	40852444	40856827	n	Muiras ML 1998	9654200	CYP2D6*3 (A2637 deletion) and CYP2D6*4 (G1934A transition)			cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Centenarian		KGB	1565	Hs.333497			Human genetics. 1998 May;102(5):526-32			124030	1617	1	1998												
139023	Y	Haematological Neoplasias	CANCER	CAN	Hematologic Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Lemos MC 1999	10383893	Mutated allele CYP2D6*4			cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			TJB	1565	Hs.333497			Carcinogenesis. 1999 Jul;20(7):1225-9			124030	1618	1	1999		Case:160; Control:128										
139024	N	Diabetes Mellitus	METABOLIC	MET	Diabetes Mellitus, Type 2	22	22q13.1	CYP2D6	40852444	40856827	n	Agundez JA 1996	8946479	?????			cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Caucasian		TJB	1565	Hs.333497			Pharmacogenetics. 1996 Oct;6(5):465-72			124030	1619	1	1996		Case:111; Control:217										
139025	N	dementia with Lewy bodies	NEUROLOGICAL	NEUR	Lewy Body Disease	19	19q13.2	CYP2A6	46041283	46048180	n	Huckvale C 2003	12486288	CYP2D6*4 allele			cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	patients with DLB		KEW	1565	Hs.439056			Journal of neurology, neurosurgery, and psychiatry. 2003 Jan;74(1):135-6			124030	1620	1	2003		Case:53										
139027	Y	schizophrenia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Nikoloff D et al. 2002	12629505				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Korean	Korea	KGB	1565	Hs.333497			The pharmacogenomics journal. 2002 ;2(6):400-7	Association between CYP2D6 genotype and tardive dyskinesia in Korean schizophrenics.		124030	1622	1	2002	Our results demonstrate the utility of CYP2D6 microarrays to assess genotype status in this Korean cohort.	Cohort Korean schizophrenics										
139028		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Dawson E et al. 1994	7712118				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Psychiatric genetics. 1994 ;4(4):215-8	An association study of debrisoquine hydroxylase (CYP2D6) polymorphisms in schizophrenia.		124030	1623	1	1994												
139029	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Pirmohamed M et al. 1996	8723057				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			American journal of medical genetics. 1996 Apr;67(2):236-7	Lack association between schizophrenia and the CYP2D6 gene polymorphisms.		124030	1624	1	1996												
139030	N	neuroleptic malignant syndrome	OTHER	OTH	Neuroleptic Malignant Syndrome	22	22q13.1	CYP2D6	40852444	40856827	n	Ueno S et al. 1996	8780858				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Biological psychiatry. 1996 Jul;40(1):72-4	Cytochrome P-450 2D6 gene polymorphism is not associated with neuroleptic malignant syndrome.		124030	1625	1	1996												
139031	N	Lewy bodies	OTHER	OTH	Lewy Body Disease|Alzheimer Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827	n	Furuno T et al. 2001	11285084				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese	Japan	KGB	1565	Hs.333497			Psychiatry and clinical neurosciences. 2001 Apr;55(2):89-92	No evidence of an association between CYP2D6 polymorphisms among Japanese and dementia with Lewy bodies.		124030	1626	1	2001												
139032	Y	CYP2D6 poor metabolizer phenotype	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Evert B et al. 1994	7845481				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Naunyn Schmiedebergs Arch Pharmacol. 1994 Oct;350(4):434-9	A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine.		124030	1627	1	1994												
139033	Y	CYP2D6 poor metabolizer phenotype	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Chida M et al. 1999	10471060				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		KGB	1565	Hs.333497			Pharmacogenetics. 1999 Jun;9(3):287-93	A new variant CYP2D6 allele (CYP2D6*21) with a single base insertion in exon 5 in a Japanese population associated with a poor metabolizer phenotype.		124030	1628	1	1999												
139034		poor metabolizer of CYP2D6	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Steen VM et al. 1995	8528268				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Pharmacogenetics. 1995 Aug;5(4):215-23	Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology.		124030	1629	1	1995												
139035		malignant melanoma	OTHER	OTH	Melanoma|Skin Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Strange RC et al. 1999	10471058				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497	hair colour Breslow thickness		Pharmacogenetics. 1999 Jun;9(3):269-76	Cytochrome P450 CYP2D6 genotypes: association with hair colour Breslow thickness and melanocyte stimulating hormone receptor alleles in patients with malignant melanoma.		124030	1630	1	1999												
139036	Y	CYP2D6 poor metabolizer phenotype	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Daly AK et al. 1996	8873218				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Pharmacogenetics. 1996 Aug;6(4):319-28	Characterization and PCR-based detection of two different hybrid CYP2D7P/CYP2D6 alleles associated with the poor metabolizer phenotype.		124030	1631	1	1996												
139037	Y	CYP2D6 poor metabolizer phenotype.	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Yokoi T et al. 1996	8946471				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		KGB	1565	Hs.333497			Pharmacogenetics. 1996 Oct;6(5):395-401	A new CYP2D6 allele with a nine base insertion in exon 9 in a Japanese population associated with poor metabolizer phenotype.		124030	1632	1	1996												
139038	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827	n	Jonsson EG et al. 1998	9564684				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Psychiatric genetics. 1998 ;8(1):25-8	Lack of association between debrisoquine 4-hydroxylase (CYP2D6) gene polymorphisms and schizophrenia.		124030	1633	1	1998												
139039	N	typical antipsychotics	OTHER	OTH	Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827	n	Aitchison KJ et al. 1999	10510151				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497	Failure to respond to treatment		British journal of clinical pharmacology. 1999 Sep;48(3):388-94	Failure to respond to treatment with typical antipsychotics is not associated with CYP2D6 ultrarapid hydroxylation.		124030	1634	1	1999	 Although the results show a trend towards an excess of ultrarapid metabolisers in the nonrefractory group, the percentages in the two groups of patients are both within the range for ultrarapid metabolisers in Caucasian populations. Our data are not consistent with ultrarapid metaboliser status being a major cause of failure to respond to typical antipsychotics.											
139040	N	essential tremor	OTHER	OTH	Parkinson Disease|Tremor	22	22q13.1	CYP2D6	40852444	40856827	n	Agundez JA et al. 1997	9286632				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			European neurology. 1997 ;38(2):99-104	CYP2D6 polymorphism is not associated with essential tremor.		124030	1635	1	1997												
139041		CYP2D6 poor metabolizer phenotype	METABOLIC	MET	Lung Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Saxena R et al. 1994	7951238				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Human molecular genetics. 1994 Jun;3(6):923-6	Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.		124030	1636	1	1994												
139042	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Tao E et al. 1998	9758873				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Zhonghua yi xue yi chuan xue za zhi. 1998 Oct;15(5):281-3	Association between the debrisoquine hydroxylase gene polymorphism and the genetic susceptibility of Parkinson's disease		124030	1637	1	1998	 The result suggested that the defect of the detoxifying enzymes might be a factor contributing to the genetic susceptibility of Parkinson's disease.											
139043		diminished debrisoquine hydroxylase activity	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Masimirembwa C et al. 1996	8971426				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	black African		KGB	1565	Hs.333497			British journal of clinical pharmacology. 1996 Dec;42(6):713-9	A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity.		124030	1638	1	1996												
139044	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q13.1	CYP2D6	40852444	40856827		McCann SJ et al. 1997	9455978				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Journal of the neurological sciences. 1997 Dec;153(1):50-3	The association between polymorphisms in the cytochrome P-450 2D6 gene and Parkinson's disease: a case-control study and meta-analysis.		124030	1639	1	1997												
139045	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827	p=0.002	Bandmann O 1997	9343502				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			TJB	1565	Hs.333497			Lancet. 1997 Oct;350(9085):1136-9			124030	1640	1	1997		Case:100; Control:100										
139046	N	neuroleptic malignant syndrome	OTHER	OTH	Neuroleptic Malignant Syndrome	22	22q13.1	CYP2D6	40852444	40856827	n	Kawanishi C et al. 2000	11204351				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese	Japan	KGB	1565	Hs.333497			Psychiatric genetics. 2000 Sep;10(3):145-7	Lack of association in Japanese patients between neuroleptic malignant syndrome and a debrisoquine 4-hydroxylase genotype with low enzyme activity.		124030	1641	1	2000												
139047	Y	CYP2D6 poor metabolizer phenotype	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Marez D et al. 1995	8563771			splice variant	cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Pharmacogenetics. 1995 Oct;5(5):305-11	A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype.		124030	1642	1	1995												
139048		plasma concentrations of fluoxetine and paroxetine	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Charlier C 2003	14639062				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Therapeutic drug monitoring. 2003 Dec;25(6):738-42	Polymorphisms in the CYP 2D6 gene: association with plasma concentrations of fluoxetine and paroxetine.		124030	1643	1	2003												
139049		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Persad AS 2003	14557687				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	asian		KGB	1565	Hs.333497			Neuroepidemiology. 2003 Nov-Dec;22(6):357-61	Parkinson's disease and CYP2D6 polymorphism in Asian populations: A meta-analysis.		124030	1644	1	2003	We conclude that  among Asian populations, there is no convincing evidence of an association between CYP2D6 polymorphism and the risk of developing PD.											
139050	N	antidepressant medication intolerance.	PSYCH	PSY		22	22q13.1	CYP2D6	40852444	40856827	n	Murphy GM Jr 2003	14514498	CYP2D6 alleles (*1, *2 and *41~~~ *3~~~ *4~~~ *5)			cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497	paroxetine intolerance		The American journal of psychiatry. 2003 Oct;160(10):1830-5	Pharmacogenetics of antidepressant medication intolerance.		124030	1645	1	2003	 Pharmacodynamic differences among patients due to variant 5-HT(2A) receptors appear to be more important than pharmacokinetic variation in determining paroxetine intolerance. Pharmacogenetic markers may be useful in predicting antidepressant treatment outcome.	Cohort 246 elderly patients with major depression	mirtazapine paroxetine									
139051		postoperative tramadol analgesia	OTHER	OTH	Gastrointestinal Diseases|Pain, Postoperative	22	22q13.1	CYP2D6	40852444	40856827		Stamer UM 2003	14499440				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Pain. 2003 Sep;105(2-Jan):231-8	Impact of CYP2D6 genotype on postoperative tramadol analgesia.		124030	1646	1	2003												
139052		opioid drug (tramadol) metabolite ratios	CHEMDEPENDENCY	CHEM		22	22q13.1	CYP2D6	40852444	40856827		Levo A 2003	12893130				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Forensic science international. 2003 Jul;135(1):15-Sep	Post-mortem SNP analysis of CYP2D6 gene reveals correlation between genotype and opioid drug (tramadol) metabolite ratios in blood.		124030	1647	1	2003												
139053		lung cancer; liver cancer	CANCER	CAN		22	22q13.1	CYP2D6	40852444	40856827		Bozina N 2003	12950145				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	croatian		KGB	1565	Hs.333497			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9, CYP2C19~~~ and CYP2D6 in Croatian population.		124030	1648	1	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia										
139054		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	22	22q13.1	CYP2D6	40852444	40856827		Gawronska-Szklarz B 1997	9112055				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			Y Wang	1565	Hs.333497	Complications		European journal of clinical pharmacology. 1997 ;51(6):431-5	N-acetylation and hydroxylation polymorphisms in type II diabetics with microvascular disturbances.		124030	1649	1	1997												
139055		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	22	22q13.1	CYP2D6	40852444	40856827		Kortunay S 1999	10206080				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			Y Wang	1565	Hs.333497			European journal of clinical pharmacology. 1999 Mar;55(1):21-5	CYP2D6 polymorphism in systemic lupus erythematosus patients.		124030	1650	1	1999	 The results of this study confirm that CYP2D6 activity is not impaired in SLE and that there is no association between SLE and phenotypic CYP2D6 status. The results also showed that there was no difference in the frequency of CYP2D6A and CYP2D6B alleles between controls and patients with SLE.											
139056		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	22	22q13.1	CYP2D6	40852444	40856827		Sabbagh N 1998	9682264				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			Y Wang	1565	Hs.333497			Pharmacogenetics. 1998 Jun;8(3):191-4	Genetic analysis of the cytochrome P450 CYP2D6 polymorphism in patients with systemic lupus erythematosus.		124030	1651	1	1998												
139057		plasma concentrations of carvedilol	NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Giessmann T 2004	15001973				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Clinical pharmacology and therapeutics. 2004 Mar;75(3):213-22	CYP2D6 genotype and induction of intestinal drug transporters by rifampin predict presystemic clearance of carvedilol in healthy subjects.		124030	1652	1	2004	 Variable plasma concentrations of carvedilol during long-term administration are predicted by CYP2D6 genotype and intestinal expression of P-glycoprotein and MRP2.											
139058	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q13.1	CYP2D6	40852444	40856827		Tsuneoka Y et al. 1993	7903297				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		Japan	KGB	1565	Hs.333497			Journal of biochemistry. 1993 Aug;114(2):263-6	A novel cytochrome P-450IID6 mutant gene associated with Parkinson's disease.		124030	1653	1	1993												
139060	N	malignant syndrome	OTHER	OTH	Neuroleptic Malignant Syndrome|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827	n	Kawanishi C et al. 1997	9323326				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			KGB	1565	Hs.567253			Psychiatric genetics. 1997 ;7(3):127-9	Neuroleptic malignant syndrome and hydroxylase gene mutations: no association with CYP2D6A or CYP2D6B.		124030	1655	1	1997												
139061	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	22		CYP2D6	40852444	40856827	n	Yamada H et al. 1998	9772024				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			KGB	1565	Hs.567253			Alzheimer Dis Assoc Disord	No association between familial Alzheimer disease and cytochrome P450 polymorphisms.			1656	1	1998												
139062	Y	multiple system atrophy	OTHER	OTH	Nervous System Diseases|Parkinson Disease	22	22q13.1	CYP2D6	40852444	40856827		Iwahashi K et al. 1995	7876880				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			KGB	1565	Hs.567253			Journal of neurology, neurosurgery, and psychiatry	A novel cytochrome P-450IID6 (CYPIID6) mutant gene associated with multiple system atrophy.		124030	1657	1	1995												
139063		agranulocytosis	HEMATOLOGICAL	HEM	Agranulocytosis|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Dettling, M.  et al. 2000	11147929				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacopsychiatry. 2000 Nov;33(6):218-20	Clozapine-induced agranulocytosis and hereditary polymorphisms of clozapine metabolizing enzymes: noassociation with myeloperoxidase and cytochrome P4502D6.		124030	9957	2	2000	Thus, our data suggest lack of evidence of an association of CA and genetically variable activity of these specific drug metabolizing enzymes; however, this may be due to statistical reasons only. Thus, further studies with greater CA samples are necessary to draw final conclusions about these genetically based hypotheses.	Case:31 schizophrenic patients with clozapine-induced:agranulocytosis;Control:77 chixophrenic subjects without clozapine-induced:agranulocytosis	clozapine									
139064		CYP2D6 activitiy	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Wan, Y. J.  et al. 2001	11505219				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	African American		CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2001 Aug;11(6):489-99	Analysis of the CYP2D6 gene polymorphism and enzyme activity in African-Americans in southern California.		124030	9960	2	2001	These results support previous findings demonstrating the importance of *17 in determining CYP2D6 activity in AAs.	Cohort 143 Caucasian normal volunteers Cohort 154 African-American normal volunteers 										
139065	Y	simvastatin treatment, efficacy and tolerability	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	22	22q13.1	CYP2D6	40852444	40856827		Mulder, A. B.  et al. 2001	11753271				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical pharmacology and therapeutics. 2001 Dec;70(6):546-51	Association of polymorphism in the cytochrome CYP2D6 and the efficacy and tolerability of simvastatin.		124030	9961	2	2001	 Our data provide evidence that the cholesterol-lowering effect of simvastatin is influenced by CYP2D6 polymorphism. The clinical use of this knowledge may allow for more efficient individual therapies.	Cohort 88 patients with hypercholesterolemia 										
139067		anticoagulant complications	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Chen, B.  et al. 2001	12579870				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Chinese		CDC GDPinfo	1565	Hs.333497			Yao xue xue bao. 2001 Feb;36(2):88-91	[Allele specific amplification for CYP2D6 gene related to intermediate metabolizer in Chinese subjects]		124030	9964	2	2001	 PCR-ASA was shown to be a rapid and specific method. It can be used to study the genetic polymorphism, especially CYP2D6 intermediate metabolism.	Cohort 65 healthy Chinese subjects 										
139068	Y	colorectal cancer	CANCER	CAN		22	22q13.1	CYP2D6	40852444	40856827		Ishiguro, A.  et al. 2004	15313161				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinica chimica acta; international journal of clinical chemistry. 2004 Sep;347(2-Jan):217-21	A long PCR assay to distinguish CYP2D6*5 and a novel CYP2D6 mutant allele associated with an 11-kb EcoRI haplotype.		124030	9970	2	2004	 The long PCR assay enabled the detection of the novel mutant allele associated with an 11-kb EcoRI haplotype. Further population studies are required to confirm the frequency of the novel mutant allele in various populations, as it may be contained in samples reported as CYP2D6*5.	Cohort 162 different genomic DNA samples 										
139069		fluvoxamine toxicity	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Suzuki, Y.  et al. 2005	16205777				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		CDC GDPinfo	1565	Hs.333497			Neuropsychopharmacology. 2005	Polymorphisms in the 5-Hydroxytryptamine 2A Receptor and CytochromeP4502D6 Genes Synergistically Predict Fluvoxamine-Induced Side Effects in Japanese Depressed Patients.		124030	9975	2	2005												
139070	N	nephropathy	RENAL	REN	Balkan Nephropathy|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Atanasova, S. Y.  et al. 2005	15708542				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical biochemistry. 2005 Mar;38(3):223-8	Genetic polymorphisms of cytochrome P450 among patients with Balkan endemic nephropathy (BEN).		124030	10022	2	2005	 Our results demonstrate that the CYP3A5*1 allele, previously reported as a marker for CYP3A5 expression in human kidney, is associated with increased risk for BEN, while CYP3A4*1B and CYP2D6 genotypes do not significantly modify the risk for the disease.	Control:112 healthy Bulgarians from nonendemic areas;Case:96 nonrelated Bulgarian Balkan endemic nephropathy patients from endemic villages Vratza district, Bulgaria										
139071	Y	loratadine pharmacokinetics	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Yin, O.  et al. 2005	15932952				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Chinese		CDC GDPinfo	1565	Hs.333497			Drug metabolism and disposition:  the biological fate of chemicals. 2005 Sep;33(9):1283-7	Effect of cyp2d6*10 allele on the pharmacokinetics of loratadine in chinese subjects.		124030	10026	2	2005	The results demonstrated that CYP2D6 polymorphism prevalent in the Chinese population significantly affected loratadine pharmacokinetics.	Cohort 17 healthy male Chinese subjects 										
139072		extrapyramidal side effects	PSYCH	PSY	Basal Ganglia Diseases|Syndrome	22	22q13.1	CYP2D6	40852444	40856827		Schillevoort, I.  et al. 2002	11927839				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2002 Apr;12(3):235-40	Antipsychotic-induced extrapyramidal syndromes and cytochrome P450 2D6 genotype: a case-control study.		124030	16190	2	2002	Poor metabolizers should have their antipsychotic drug dosage reduced when the metabolism of the prescribed drug depends on CYP2D6 activity or should receive an antipsychotic drug that is not CYP2D6-dependent.	Case patients prescribed antiparkinsonian medication during oral antipsychotic drug treatment:Sep, 1994- Aug, 2000;Control control patients matched on whether or not their prescribed antipsychotic drug was CYP2D6-dependent										
139074	N	Parkinson's disease	NEUROLOGICAL	NEUR		22	22q13.1	CYP2D6	40852444	40856827		Guerrero, D.  et al. 2002	12861292				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Anales del sistema sanitario de Navarra. 2002 May-Aug;25(2):147-54	[Prevalence of CYPD6 mutations in sporadic Parkinson's disease: case-control study]		124030	16196	2	2002	In conclusion, the genotype CYP2D6 does not constitute a risk factor in PD.	Case:46 patients with Parkinson's disease;Control:54:controls										
139075		asthma; rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Niewinski, P.  et al. 2003	12879776				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pol Arch Med Wewn. 2003 Feb;109(2):137-42	[Significance of CYP2D6 oxidation genotype as a risk factor in development of allergic diseases]		124030	16197	2	2003	Our results represent some evidence for a possible relationship between extensive CYP2D6 genotype and the higher susceptibility to development of allergic diseases.	Case:100 patients with allergic diseases--62 with atopic asthma and 38 with allergic rhinitis;Control:300 healthy volunteers										
139076		depressive disorder, major	PSYCH	PSY		22	22q13.1	CYP2D6	40852444	40856827		Murphy, G. M. = Jr et al. 2003	14514498				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			The American journal of psychiatry. 2003 Oct;160(10):1830-5	Pharmacogenetics of antidepressant medication intolerance.		124030	16199	2	2003	 Pharmacodynamic differences among patients due to variant 5-HT(2A) receptors appear to be more important than pharmacokinetic variation in determining paroxetine intolerance. Pharmacogenetic markers may be useful in predicting antidepressant treatment outcome.	Cohort 246 elderly patients with major depression 	mirtazapine paroxetine									
139077		colorectal cancer	CANCER	CAN	Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827		Ieiri, I.  et al. 2003	14571354				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		CDC GDPinfo	1565	Hs.333497			Pharmacopsychiatry. 2003 Sep;36(5):192-6	A CYP2D6 phenotype-genotype mismatch in Japanese psychiatric patients.		124030	16200	2	2003	A CYP2D6 phenotype-genotype mismatch (phenocopying) can occur in Japanese psychiatric patients receiving clinical doses of some psychotropic drugs where the prevalence of PMs is low and the pharmacodynamic responses to those drugs are enhanced compared to Caucasian patients.	Case:14 patients undergoing psychotropic drug treatment;Control:90 drug-free healthy volunteers	psychotropic drugs									
139078		tramadol pharmacokinetics	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Borlak, J.  et al. 2003	14624403				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Metabolism:  clinical and experimental. 2003 Nov;52(11):1439-43	A rapid and simple CYP2D6 genotyping assay--case study with the analgetic tramadol.		124030	16201	2	2003	Our assay can be used reliably in clinical pharmacology studies and may be used for dose adjustment.	Cohort 24 healthy subjects studied for tramadol pharmacokinetic (n=24) and unrelated individuals (n=100) 	tramadol									
139079	Y	personality disorders	PSYCH	PSY	Depressive Disorder	22	22q13.1	CYP2D6	40852444	40856827		Roberts, R. L.  et al. 2004	15108188				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):90-3	Association between cytochrome P450 2D6 genotype and harm avoidance.		124030	16206	2	2004	Our findings suggest that the CYP2D6 polymorphism may impact on personality, and one potential mechanism for this would be by influencing the generation of endogenous neurotransmitters in the brain.	Cohort 121 depressed patients 										
139081		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local	22	22q13.1	CYP2D6	40852444	40856827		Nowell, S. A.  et al. 2005	15952058				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Breast cancer research and treatment. 2005 Jun;91(3):249-58	Association of genetic variation in tamoxifen-metabolizing enzymes with overall survival and recurrence of disease in breast cancer patients.		124030	16212	2	2005			tamoxifen									
139082		atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation	22	22q13.1	CYP2D6	40852444	40856827		Martinez-Selles, M.  et al. 2005	15970126				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Rev Esp Cardiol. 2005 Jun;58(6):745-8	[Pharmacogenetic study of the response to flecainide and propafenone in patients with atrial fibrillation]		124030	16213	2	2005			flecainide propafenone									
139083		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Recurrence	22	22q13.1	CYP2D6	40852444	40856827		Wegman, P.  et al. 2005	15987423				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Breast cancer research. 2005 ;7(3):R284-90	Genotype of metabolic enzymes and the benefit of tamoxifen in postmenopausal breast cancer patients.		124030	16214	2	2005	 The present study suggests that genotype of metabolic enzymes might be useful as a guide for adjuvant endocrine treatment of postmenopausal breast cancer patients. However, results are in contradiction to prior hypotheses and the present sample size is relatively small. Findings therefore need to be confirmed in a larger cohort.		tamoxifen	CYP2D6	*4	SULT1A1	*1/*1			Y	tamoxifen	postmenopausal breast cancer
139085	Y	breast cancer; tamoxifen, prophylactic effect of	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local|Hot Flashes	22	22q13.1	CYP2D6	40852444	40856827			16361630				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of clinical oncology. 2005 Dec;23(36):9312-8	Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes		124030	16217	2	2005	 In tamoxifen-treated patients, women with the CYP2D6 *4/*4 genotype tend to have a higher risk of disease relapse and a lower incidence of hot flashes, which is consistent with our previous observation that CYP2D6 is responsible for the metabolic activation of tamoxifen to endoxifen.		tamoxifen									
139087		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Tiwari, A. K.  et al. 2005	15820320				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		India	CDC GDPinfo	1565	Hs.333497			Schizophrenia research. 2005 Jun;75(1):21-6	Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: III. Lack ofassociation of CYP3A4 and CYP2D6 gene polymorphisms.		124030	16258	2	2005	No significant association of either of the two SNPs with TD (CYP3A4*1B chi(2)=0. 308, df=1, p=0.579; CYP2D6*4 chi(2)=0.006, df=1, p=0.935) was observed. However a trend towards increased severity of TD in patients heterozygous for the CYP2D6*4 mutation was observed.	Cohort 335 chronic schizophrenic patients north India 										
139089		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	22	22q13.1	CYP2D6	40852444	40856827		Chernajovsky, Y.  et al. 2002	12421093				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		124030	17772	2	2002	Review article											
139090		multiple chemical sensitivity	PHARMACOGENOMIC	PHARM	Multiple Chemical Sensitivity|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		McKeown-Eyssen, G.  et al. 2004	15256524				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			International journal of epidemiology. 2004 Oct;33(5):971-8	Case-control study of genotypes in multiple chemical sensitivity: CYP2D6, NAT1, NAT2, PON1,PON2 and MTHFR.		124030	19013	2	2004	 A genetic predisposition for MCS may involve altered biotransformation of environmental chemicals. The CYP2D6 enzyme activates and inactivates toxins; the NAT2 enzyme bioactivates arylamines to protein-binding metabolites. A gene-gene interaction between CYP2D6 and NAT2 suggested that rapid metabolism for both enzymes may confer substantially elevated risk (OR = 18.7, P = 0.002). Our finding parallels others' observation of a link between PON1 heterozygosity and neurological symptoms in Gulf War syndrome. This first demonstration of genetic variation in drug-metabolizing enzymes in association with MCS requires replication. However, it suggests new research directions on genetically variable toxin pathways that might be important in MCS.	Control:162:controls;Case:203 female Caucasian multiple chemical sensitivity:cases		CYP2D6		NAT2				Y	toxic chemicals	multiple chemical sensitivity
139092	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	22	22q13.1	CYP2D6	40852444	40856827		Kimura, Y.  et al. 2004	15690482				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis		124030	21024	2	2004	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
139094		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Fukatsu, T.  et al. 2004	15330195				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese	Japan	CDC GDPinfo	1565	Hs.333497			Anticancer research. 2004 Jul-Aug;24(4):2431-7	Genetic polymorphisms of hormone-related genes and prostate cancer risk in the Japanese population.		124030	21026	2	2004	This pilot study showed that CYP1B1 and PR polymorphisms, alone or in combination, might be associated with prostate cancer risk. They might, therefore, have potential as a tool for identifying high-risk individuals.	Case:147 Japanese prostate cancer patients;Control:266 urological controls										
139095		preeclampsia	REPRODUCTION	REP	Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Garte, S.  et al. 2001	11751440				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1239-48	Metabolic gene polymorphism frequencies in control populations.		124030	21027	2	2001	No differences in allele frequencies were seen by age, sex, or type of controls (hospital patients versus population controls). No examples of linkage disequilibrium between the different loci were detected based on comparison of observed and expected frequencies for combinations of specific alleles.	Cohort 12525 Cacasians Cohort 2136 Asians Cohort 996 Africans and African Americans 										
139096		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Li, W. Y.  et al. 2004	15769360				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Zhonghua liu xing bing xue za zhi. 2004 Dec;25(12):1042-5	[The relationship between genetic polymorphism of metabolizing enzymes and the genetic susceptibility to lung cancer]		124030	21028	2	2004	 Smoking and GSTM1-null genotype seemed to be the risk factors of lung cancer. Those who carrying GSTM1-null genotype and smoking cigarettes were prone to suffer from lung cancer to become the high-risk population of the disease.	Control:200:controls;Case:217 lung cancer cases	smoking (tobacco)									
139097		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasm Recurrence, Local	22	22q13.1	CYP2D6	40852444	40856827		Matthias, C.  et al. 2002	12063626				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Laryngo- rhino- otologie. 2002 Jun;81(6):406-12	[Influence of glutathione s-transferase and cytochrome p450 polymorphisms on prognosis of head and neck cancer]		124030	21029	2	2002	 The data demonstrate site-dependent associations between GSTT1 null and CYP2D6 PM and tumor extension and lymph node involvement in SCC of the head and neck.	Cohort patients with squamous cell carcinoma (SCC) of the head and neck, 										
139098		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Matthias, C.  et al. 2003	12548461				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		124030	21030	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
139099		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Krajinovic, M.  et al. 2001	11291049				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Canadian	Canada|France	CDC GDPinfo	1565	Hs.333497			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		124030	21031	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
139100	N	methadone toxicity	PHARMACOGENOMIC	PHARM	Poisoning	22	22q13.1	CYP2D6	40852444	40856827		Wong, S. H.  et al. 2003	14640293				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of forensic sciences. 2003 Nov;48(6):1406-15	Pharmacogenomics as an aspect of molecular autopsy for forensic pathology/toxicology: does genotypingCYP 2D6 serve as an adjunct for certifying methadone toxicity?		124030	21032	2	2003	Thus, CYP 2D6 mutations may not yet be directly associated with methadone toxicity. However, pharmacogenomics, complementing other case findings, served as an adjunct in interpreting methadone toxicity of poor and intermediate metabolizers.	Case:21 methadone cases from the Milwaukee County Medical Examiner's Office:1998-2000;Control:23:controls										
139101		psychiatric disorders	PSYCH	PSY	Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827		Dandara, C.  et al. 2001	11372584				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	African		CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2001 Apr;57(1):7-Nov	Genetic polymorphism of CYP2D6 and CYP2C19 in east- and southern African populations including psychiatric patients.		124030	21033	2	2001	 The genotype results predict a low prevalence of people with deficient CYP2D6 and CYP2C19 activity among linguistically (Bantu) related populations of East and Southern Africa. The high frequency of the low-activity CYP2D6*17 allele predicts that the Bantu people have a reduced capacity to metabolise drugs that are CYP2D6 substrates.	Case:176 psychiatric patients South Africa (Venda), Tanzania, and Zimbabwe;Control:212 healthy individuals South Africa (Venda), Tanzania, and Zimbabwe										
139102	Y	amitriptyline; nortriptyline	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Steimer, W.  et al. 2004	15205367				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical chemistry. 2004 Sep;50(9):1623-33	Allele-Specific Change in Concentration and Functional Gene Dose for the Prediction of Steady-State Serum Concentrations of Amitriptyline and Nortriptyline in CYP2C19 and CYP2D6 Extensive and Intermediate Metabolizers		124030	21034	2	2004	 AT and NT concentrations can be predicted within the group of CYP2D6 extensive metabolizers. The ASCOC provides substantial advantages compared with current methods of analysis. CYP2D6 but not CYP2C19 correlates with the sum of both concentrations used to guide AT therapy.	Cohort 50 Caucasians receiving amitriptyline 	amitriptyline									
139103		H. pylori infection	INFECTION	INF		22	22q13.1	CYP2D6	40852444	40856827		Luo, H. R.  et al. 2004	15651900				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Jewish		CDC GDPinfo	1565	Hs.333497			American journal of pharmacogenomics. 2004 ;4(6):395-401	Polymorphisms of CYP2C19 and CYP2D6 in Israeli Ethnic Groups		124030	21035	2	2004	 This is the first study of the CYP2D6 gene polymorphism in Israeli ethnic groups, either Jewish or Arab. Furthermore, this is also the first study of the CYP2C19 gene polymorphism in Jewish or Arab subgroups living in Israel. The frequencies of various alleles for the CYP2D6 gene are significantly different among the ethnic groups in Israel. These new findings may have important clinical implications in administrating drugs metabolized by CYP2D6 and for CYP2D6-related adverse drug reactions in the Israeli population.	Cohort Israelis from four different ethnic backgrounds 										
139104	N	clomipramine metabolism	PHARMACOGENOMIC	PHARM	Depressive Disorder	22	22q13.1	CYP2D6	40852444	40856827		Yokono, A.  et al. 2001	11763000				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		CDC GDPinfo	1565	Hs.333497			Journal of clinical psychopharmacology. 2001 Dec;21(6):549-55	The effect of CYP2C19 and CYP2D6 genotypes on the metabolism of clomipramine in Japanese psychiatric patients.		124030	21036	2	2001	These results suggest that genotyping CYP2C19 is useful for grossly predicting the risk of getting high plasma concentrations of C and the low individual capacity to demethylate C because there is marked interindividual variability within each genotype. However, the genotyping of CYP2D6 is not useful for predicting the individual capacity to hydroxylate DC.	Cohort 51 Japanese psychiatric patients (18 men and 33 women) 										
139105		phenytoin levels	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Tamminga, W. J.  et al. 2001	11829201				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Dutch		CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2001 Dec;57(10):717-22	The prevalence of CYP2D6 and CYP2C19 genotypes in a population of healthy Dutch volunteers.		124030	21037	2	2001	 The frequencies of CYP2D6 and CYP2C19 allelic variants were in accordance with other European populations. Assessment of *3, *4, *6, *7, and *8 alleles for CYP2D6, and *2 and *3 for CYP2C19, predicted the phenotype with an accuracy of over 98.6%. A gene-dose effect was found for CYP2C19. CYP2C19 heterozygous female subjects had a decreased CYP2C19 activity that may be at least partly due to the use of oral contraceptives.	Cohort 765 unrelated healthy volunteers 										
139106		CYP2C19 activity; CYP2D6 activitiy	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Aklillu, E.  et al. 2002	12142727				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Swedish, Ethiopians		CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2002 Jul;12(5):375-83	Evidence for environmental influence on CYP2D6-catalysed debrisoquine hydroxylation as demonstrated by phenotyping and genotyping of Ethiopians living in Ethiopia or in Sweden.		124030	21038	2	2002	In conclusion, the results indicate a significant influence of environmental factors as an explanation for the difference in capacity for CYP2D6, but not CYP2C19 metabolism between Caucasians and Black Africans. Additional factors remain to be elucidated to fully explain the interethnic differences in CYP2D6 activity.	Cohort 70/114/134 Ethiopians living in Sweden (n = 70) were assessed and compared to our previously published data from Ethiopians living in Ethiopia (n = 114) and Swedish Caucasians (n = 134) 										
139107		amitriptyline metabolism	METABOLIC	MET	Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827		Shimoda, K.  et al. 2002	12172336				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		CDC GDPinfo	1565	Hs.333497			Journal of clinical psychopharmacology. 2002 Aug;22(4):371-8	The impact of CYP2C19 and CYP2D6 genotypes on metabolism of amitriptyline in Japanese psychiatric patients		124030	21039	2	2002	Therefore, the genotype of CYP2C19 is one of the important determinants of the plasma concentrations of AT and the capacity to desmethylate AT. Mother compound AT is shunted via hydroxylation pathways from AT to EHAT and ZHAT in the subjects with homozygotes of mutated alleles of CYP2C19 in order to compensate for the decreased capacity to desmethylate AT.	Cohort 50 psychiatric patients 										
139108	Y	liver disease	OTHER	OTH		22	22q13.1	CYP2D6	40852444	40856827		Kumashiro, R.  et al. 2003	12963435				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Japanese		CDC GDPinfo	1565	Hs.333497			Hepatology research. 2003 Aug;26(4):337-342	Association of troglitazone-induced liver injury with mutation of the cytochrome P450 2C19 gene.		124030	21040	2	2003	In conclusion, troglitazone-induced liver injury occurred more frequently in subjects with the CYP 2C19 mutations in Japanese patients.	Cohort 39 Japanese type 2 diabetic subjects 	troglitazone									
139109		citalopram metabolism	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Holmgren, P.  et al. 2004	15068562				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of analytical toxicology. 2004 Mar;28(2):94-104	Enantioselective analysis of citalopram and its metabolites in postmortem blood and genotyping for CYD2D6 and CYP2C19		124030	21041	2	2004	The presence of drugs metabolized by and/or inhibiting these enzymes in several of the cases suggests that such pharmacokinetic interactions are a more important (practical) problem than metabolic deficiency. Enantioselective analysis of citalopram and its metabolites can provide additional information when interpreting forensic toxicology results and might be a necessity in the future.	Cohort 53 autopsy cases 										
139110		fatal drug intoxication	OTHER	OTH	Overdose	22	22q13.1	CYP2D6	40852444	40856827		Zackrisson, A. L.  et al. 2004	15349706				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		Sweden	CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2004 Oct;60(8):547-52	Fatal intoxication cases: cytochrome P( 450 )2D6and 2C19 genotype distributions		124030	21042	2	2004	 The findings in this study confirm our earlier observations of a lower frequency of CYP2D6 PM genotypes in cases of fatal intoxication. To our knowledge, it has not been shown previously that intoxication victims might have a lower frequency of PMs than the general population.	Cohort 242 individuals who had died due to intoxication by pharmaceuticals 										
139111	Y	depression	PSYCH	PSY	Depressive Disorder	22	22q13.1	CYP2D6	40852444	40856827		Steimer, W.  et al. 2004	15590749				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical chemistry. 2005 Feb;51(2):376-85	Amitriptyline or not, that is the question:pharmacogenetic testing of CYP2D6 and CYP2C19 identifies patients with low or high risk for side effects in amitriptyline therapy.		124030	21043	2	2004	 Combined pharmacogenetic testing for CYP2D6 and CYP2C19 identifies patients with low risk for side effects in amitriptyline therapy and could possibly be used to individualize antidepressive regimens and reduce treatment cost. Identification of genotypes associated with slightly reduced intermediate metabolism may be more important than currently anticipated. It could also be the key to demonstrating cost-effectiveness for CYP2D6 genotyping in critical dose drugs.	Cohort 50 Caucasian inpatients with at least medium-grade depressive disorder 	amitriptyline									
139113		arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Griese, E. U.  et al. 2001	11207032				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Australian		CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2001 Feb;11(1):69-76	Allele and genotype frequencies of polymorphic cytochromes P4502D6, 2C19 and 2E1 in aborigines from western Australia		124030	21045	2	2001	For CYP2D6 and CYP2C19, allele frequencies and predicted phenotypes differed significantly from those for Caucasians but were similar to those for Orientals indicating a close relationship to East Asian populations.	Cohort people living in the far north of Western Australia Australia 										
139114		hypoglycemia	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Kirchheiner, J.  et al. 2004	15005635				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical pharmacokinetics. 2004 ;43(4):267-78	Influence of CYP2C9 and CYP2D6 polymorphisms on the pharmacokinetics of nateglinide in genotyped healthy volunteers.		124030	21046	2	2004	 The effect of CYP2C9 polymorphisms on nateglinide kinetics may cause a slightly increased risk for hypoglycaemia, which may become relevant in diabetic patients.	Cohort 26 healthy volunteers chosent for their CYP2C9 and CYP2D6 genotype 	nateglinide									
139115	Y	depression	PSYCH	PSY	Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827		LLerena, A.  et al. 2004	14726986				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2004 Feb;59(12):869-73	Effect of CYP2D6 and CYP2C9 genotypes on fluoxetine and norfluoxetine plasma concentrations during steady-state conditions		124030	21047	2	2004	 The present results show that CYP2D6 and potentially CYP2C9 genotypes seem to influence fluoxetine plasma concentration during steady-state conditions in patients.	Cohort 64 White European psychiatric patients receiving antidepressant monotherapy with fluoxetine 	fluoxetine									
139116	Y	haloperidol, plasma	PHARMACOGENOMIC	PHARM	Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827		LLerena, A.  et al. 2004	15048614				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacopsychiatry. 2004 Mar;37(2):69-73	Relationship between haloperidol plasma concentration, debrisoquine metabolic ratio, CYP2D6 and CYP2C9 genotypes in psychiatric patients		124030	21048	2	2004	 The present data support the dose-dependent inhibitory effect of haloperidol on CYP2D6, and the influence of this enzyme activity on haloperidol plasma concentration under steady-state conditions. The inhibitory effect of haloperidol on CYP2D6 enzyme activity may result in drug interactions and unexpected high plasma concentrations when drugs metabolized by the same enzyme are given concomitantly with haloperidol.	Cohort 30 Caucasian psychiatric patients under haloperidol monotherapy 	haloperidol									
139117		heart rate; risperidone metabolism	CARDIOVASCULAR	CARD	Long QT Syndrome	22	22q13.1	CYP2D6	40852444	40856827		Llerena, A.  et al. 2004	15260906				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of psychopharmacology (Oxford, England). 2004 Jun;18(2):189-93	QTc interval, CYP2D6 and CYP2C9 genotypes and risperidone plasma concentrations.		124030	21049	2	2004	The results suggest that CYP2D6, but Yot CYP2C9, may be related to QTc leYgtheYiYg duriYg treatmeYt with risperidoYe. The effect of the CYP2D6 geYotype iY risperidoYe metabolism is also showY.	Cohort 35 Caucasian European psychiatric patients 										
139118		endoxifen	PHARMACOGENOMIC	PHARM	Breast Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Jin, Y.  et al. 2005	15632378				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of the National Cancer Institute. 2005 Jan;97(1):30-9	CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment.		124030	21050	2	2005	 Interactions between CYP2D6 polymorphisms and coadministered antidepressants and other drugs that are CYP2D6 inhibitors may be associated with altered tamoxifen activity.	Cohort 80 patients with newly diagnosed breast cancer 	CYP2D6 inhibitors tamoxifen									
139119		HIV infection	INFECTION	INF	HIV Infections	22	22q13.1	CYP2D6	40852444	40856827		Fellay, J.  et al. 2002	11809184				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Lancet. 2002 Jan;359(9300):30-6	Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: apharmacogenetics study.		124030	24248	2	2002	The polymorphism MDR1(ABCB1) 3435 C/T predicts immune recovery after initiation of antiretroviral treatment. This finding suggests that P-glycoprotein has an important role in admittance of antiretroviral drugs to restricted compartments in vivo.	Cohort 123 HIV-1-infected patients 	antiretroviral									
139120		preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Obstetric Labor, Premature|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Wang, X.  et al. 2001	11520401				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		China	CDC GDPinfo	1565	Hs.333497			Paediatric and perinatal epidemiology. 2001 Jul;15 Suppl 2:63-77	Molecular epidemiology of preterm delivery:methodology and challenges.		124030	24249	2	2001	This study integrates epidemiological and clinical data as well as genetic markers along major pathogenic pathways of PTD. The findings from this study should improve our understanding of genetic influences on PTD and gene-environment interactions.	Case:500 preterm babies and their parents;Control:500 maternal age-matched term controls										
139121		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	22	22q13.1	CYP2D6	40852444	40856827		Krajinovic, M.  et al. 2002	11895912				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		124030	24250	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
139122	Y	liver cancer; liver disease	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Silvestri, L.  et al. 2003	12569554				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			International journal of cancer. Journal international du cancer. 2003 Apr;104(3):310-7	CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer		124030	24251	2	2003	Polymorphic variants of CYP genes may contribute to the progression of liver disease and HCC risk in HCV-infected subjects.	Case:87/92/91 chronic hepatitis (n=87), cirrhosis (n=92) and hepatocellular carcinoma (n=91) cases;Control:90/99 asymptomatic carriers (n=90) of chronic hepatitis and blood donors (n=99)	hepatitis C									
139123		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Batra, V.  et al. 2003	12740294				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		124030	24252	2	2003	Review article											
139124	N	leukemia, adult acute	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid|Acute Disease	22	22q13.1	CYP2D6	40852444	40856827		Roddam, P. L.  et al. 2000	11037802				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2000 Oct;10(7):605-15	Poor metabolizers at the cytochrome P450 2D6 and 2C19 loci are at increased risk of developing adult acute leukaemia.		124030	24253	2	2000	For this CYP450 locus, an increased risk was suggested in secondary leukaemia (OR 2.67, 95% CI 0.44-16.3) and amongst AML cases with a chromosomal abnormality (OR 6.72, 95% CI 2.22-20.4). No difference in CYP1A1 genotype distribution was found for acute leukaemia, AML, ALL or any other diagnostic classification group used. No significant interactions between CYP2D6, CYP2C19 or CYP1A1 were found.	Case:550 cases of acute leukemia;Control:950 matched controls	smoking (tobacco)									
139125		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	22	22q13.1	CYP2D6	40852444	40856827		Bowen, D. T.  et al. 2002	12468438				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		124030	24254	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
139126		tamoxifen, metabolism	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Coller, J. K.  et al. 2002	12207635				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			British journal of clinical pharmacology. 2002 Aug;54(2):157-67	The influence of CYP2B6, CYP2C9 and CYP2D6 genotypes on the formation of the potent antioestrogen Z-4-hydroxy-tamoxifen in human liver		124030	24255	2	2002	 CYP2B6, CYP2C9 and CYP2D6 genotypes all affected Z-4-hydroxy-tamoxifen formation and can predict individual ability to catalyse this reaction.	Cohort 50 human liver samples 	tamoxifen									
139127		lung cancer; liver cancer	CANCER	CAN		22	22q13.1	CYP2D6	40852444	40856827		Bozina, N.  et al. 2003	12950145				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	European		CDC GDPinfo	1565	Hs.333497			Croatian medical journal. 2003 Aug;44(4):425-8	Genetic polymorphisms of cytochromes P450: CYP2C9,CYP2C19, and CYP2D6 in Croatian population.		124030	24256	2	2003	 The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid-European and Mediterranean populations.	Cohort 200 non-related Croatian citizens Croatia 										
139129		arthritis; diabetes, type 2; osteoarthritis; liver disease; acenocoumarol response	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Scordo, M. G.  et al. 2004	15177309				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Caucasian		CDC GDPinfo	1565	Hs.333497			Pharmacological research. 2004 Aug;50(2):195-200	Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population.		124030	24258	2	2004	Frequencies of both CYP2C9 and CYP2C19 allelic variants, as well as CYP2D6 detrimental alleles, in Italian subjects were similar to those of other Caucasian populations. Conversely, the prevalence of CYP2D6 gene duplication among Italians resulted very high, confirming the higher frequency of CYP2D6 UM in the Mediterranean area compared to Northern Europe.	Cohort 360 unrelated healthy Italian volunteers (210 males and 150 females, aged 19-52 years) Italy 										
139130		drug hypersensitivity	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Egger, T.  et al. 2005	15813658				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Drugs & aging. 2005 ;22(3):265-72	Cytochrome p450 polymorphisms in geriatric patients: impact on adverse drug reactions--a pilotstudy.		124030	24259	2	2005	 In this investigation geriatric patients showed a high rate of ADRs. However, no association between the ADR rate and the patients' genotype could be detected, which most likely was a result of the small number of patient samples analysed.Although prophylactic genotyping would have not prevented ADRs in this pilot study, physicians nevertheless have to be aware of potential genetic mutations in patients with polypharmacy.	Cohort 243 patients in a geriatric rehabilitation ward, mean age 80.2 +/- 7.7 years 										
139131		fluoxetine pharmacokinetics	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Scordo, M. G.  et al. 2005	16236141				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Basic & clinical pharmacology & toxicology. 2005 Nov;97(5):296-301	Influence of CYP2C9, 2C19 and 2D6 genetic polymorphisms on the steady-state plasma concentrations of the enantiomers of fluoxetine and norfluoxetine.		124030	24260	2	2005												
139132		doxepin metabolism	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Kirchheiner, J.  et al. 2002	12360109				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacogenetics. 2002 Oct;12(7):571-80	Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers.		124030	24261	2	2002	The CYP2D6 polymorphism had a major impact on E-doxepin pharmacokinetics and CYP2D6 PMs might be at an elevated risk for adverse drug effects when treated with common recommended doses.	Cohort healthy volunteers 	doxepin									
139133		seizures; thrombosis, deep vein; systemic sclerosis	NEUROLOGICAL	NEUR		22	22q13.1	CYP2D6	40852444	40856827		Eriksson, S.  et al. 2002	15090156				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Assay and drug development technologies. 2002 Nov;1(1 Pt 1):49-59	Cytochrome p450 genotyping by multiplexed real-time dna sequencing with pyrosequencing technology.		124030	24262	2	2002	Pyrosequencing technology offers a highly automated, rapid, and accurate method for identification of cytochrome p450 alleles, which is suitable for pharmacogenomic research, as well as for routine assessment of patient genotypes.	Cohort patients samples 										
139134		cancer; HIV infection; gastrointestinal bleeding; thiopurine methyltransferase activity	CANCER	CAN		22	22q13.1	CYP2D6	40852444	40856827		Ishiguro, A.  et al. 2005	15691505				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Analytical biochemistry. 2005 Feb;337(2):256-61	High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.		124030	24263	2	2005	To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.	Cohort 139 Japanese volunteers 										
139135		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		De Jong, M. M.  et al. 2002	12433710				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		124030	25927	2	2002	Review article											
139136		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Sturgis, E. M.  et al. 2002	11981277				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		124030	25928	2	2002	Review article											
139137		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Lerman, C.  et al. 2003	12627466				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		124030	25929	2	2003	Review article											
139140		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Esfandiary, H.  et al. 2005	15774926				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		124030	26832	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
139141		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Gaikovitch, E. A.  et al. 2003	12879168				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Russian		CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		124030	26833	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
139142		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		124030	26834	2	2002	Review article		smoking (tobacco)									
139144		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Sachse, C.  et al. 2002	12419832				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		England	CDC GDPinfo	1565	Hs.333497			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		124030	27698	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
139145		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		124030	28040	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
139146		CYP3A5 expression	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Hustert, E.  et al. 2001	11740341				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1574	Hs.150276			Pharmacogenetics. 2001 Dec;11(9):773-9	The genetic determinants of the CYP3A5 polymorphism		605325	9995	2	2001	In summary, these results should add to efforts to identify clinically relevant, CYP3A5-specific reactions and to further elucidate traits responsible for variable expression of the entire CYP3A family.	Cohort 183 liver samples and matching blood samples from Caucasians of German and Swiss nationality with a variety of medical conditions Berlin, Germany and Basel, Switzerland 										
139147	Y	kidney transplant complications	IMMUNE	IMM		7	7q21.3-q22.1	CYP3A	98890599	99022355		Thervet, E.  et al. 2003	14578760				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Transplantation. 2003 Oct;76(8):1233-5	Impact of cytochrome p450 3A5 genetic polymorphism on tacrolimus doses and concentration-to-dose ratio in renal transplant recipients.		124010	9996	2	2003	 Determination of CYP3A5 genotype is predictive of the dose of tacrolimus in renal transplant recipients and may help to determine the initial daily dose needed by individual patients for adequate immunosuppression without excess nephrotoxicity.	Cohort 80 renal transplant recipients 	tacrolimus									
139148		CYP3A4 activity	METABOLIC	MET		7	7q21.3-q22.1	CYP3A	98890599	99022355		Rodriguez-Antona, C.  et al. 2005	16171783				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Biochemical and biophysical research communications. 2005 Dec;338(1):299-305	Phenotype-genotype variability in the human CYP3A locus as assessed by the probe drug quinine and analyses of variant CYP3A4 alleles.		124010	9998	2	2005												
139149		lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744			16344723	CYP3A4*1B			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Pharmacogenetics and genomics. 2006 Jan;16(1):59-7	Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations		124010	9999	2	2006												
139150		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Recurrence	7	7q21.3-q22.1	CYP3A	98890599	99022355		Aplenc, R.  et al. 2003	12846892				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				British journal of haematology. 2003 Jul;122(2):240-4	CYP3A genotypes and treatment response in paediatric acute lymphoblastic leukaemia.		124010	16224	2	2003	CYP3 genotypes may not significantly modify the risk of relapse in childhood ALL, but may modify the risk of toxicity.	Case:124 relapsed acute lymphoblastic leukemia children of the national Children's Cancer Group (CCG) paediatric ALL trial;Control:409 non-relapsed patients	chemotherapy									
139151		lung cancer	CANCER	CAN		7	7q21.3-q22.1	CYP3A	98890599	99022355		Dally, H.  et al. 2004	15050738				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Caucasian		CDC GDPinfo	1574				Cancer letters. 2004 Apr;207(1):95-9	Genotype relationships in the CYP3A locus in Caucasians		124010	16225	2	2004	We conclude that  contrary to previous assumptions, the CYP3AP1 genotype is not a reliable predictor for CYP3A5 activity.	Control:428:controls;Case:782 lung cancer cases										
139152	Y	kidney transplant complications	IMMUNE	IMM		7	7q21.3-q22.1	CYP3A	98890599	99022355		MacPhee, I. A.  et al. 2004	15147425				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				American journal of transplantation. 2004 Jun;4(6):914-9	The influence of pharmacogenetics on the time to achieve target tacrolimus concentrations after kidney transplantation.		124010	16226	2	2004	In conclusion, an initial dosing regimen for tacrolimus based on knowledge of the CYP3AP1 genotype and subsequently guided by concentration measurements has the potential to increase the proportion of patients achieving target blood concentrations early after transplantation.	Cohort 178 renal transplant recipients 	tacrolimus									
139153		midazolam clearance	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.3-q22.1	CYP3A	98890599	99022355		Wong, M.  et al. 2004	15179407				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Australian	Australia	CDC GDPinfo	1574				Clinical pharmacology and therapeutics. 2004 Jun;75(6):529-38	CYP3A5 genotype and midazolam clearance in Australian patients receiving chemotherapy.		124010	16228	2	2004	 Overall CYP3A activity is related to CYP3A5 genotype. CYP3A5 genotyping may be helpful in predicting the drug-metabolizing capability of individual cancer patients who are predominantly Caucasian in origin.	Cohort 67 patients with cancer 	Midazolam									
139154		salt sensitivity	UNKNOWN	UNK		7	7q21.3-q22.1	CYP3A	98890599	99022355		Thompson, E. E.  et al. 2004	15492926				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				American journal of human genetics. 2004 Dec;75(6):1059-69	CYP3A variation and the evolution of salt-sensitivity variants.		124010	16230	2	2004	Taken together, these results suggest that variants that influence salt homeostasis were the targets of a shared selective pressure that resulted from an environmental variable correlated with latitude.	Cohort >1,000 individuals from 52 worldwide population samples 										
139155		kidney transplant; tacrolium pharmacokinetic	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A	98890599	99022355		Zhang, X.  et al. 2005	16146556				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Clinical transplantation. 2005 Oct;19(5):638-43	Influence of CYP3A5 and MDR1 polymorphisms on tacrolimus concentration in the early stage after renal transplantation.		124010	21079	2	2005	 CYP3A5*1/*3 polymorphisms are associated with tacrolimus pharmacokinetics and dose requirements in renal transplant recipients. Pharmacogenetic methods could be employed prospectively to help initial dose selection and to individualize immunosuppressive therapy.		tacrolimus									
139156		kidney transplant complications	IMMUNE	IMM		7	7q21.3-q22.1	CYP3A	98890599	99022355		Yates, C. R.  et al. 2003	12817518				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Journal of clinical pharmacology. 2003 Jun;43(6):555-64	The effect of CYP3A5 and MDR1 polymorphic expression on cyclosporine oral disposition in renal transplant patients.		124010	21080	2	2003	Thus, the MDR1 C3435T genotype offers a potential mechanistic basis to explain interracial differences in CsA oral bioavailability. Further studies are needed to explore the relationship between CYP3A5 and MDR1 genotype and phenotype.	Cohort 19 renal transplant recipients 	cyclosporin A									
139157	Y	ABT-773 plasma levels	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Katz, D. A.  et al. 2004	15179406				cytochrome P450, family 3, subfamily A, polypeptide 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2004 Jun;75(6):516-28	CYP3A5 genotype has a dose-dependent effect on ABT-773 plasma levels.		605325	21081	2	2004	 These results suggest that CYP3A5 genotype may be an important determinant of in vivo drug disposition and that this effect may be dose-dependent.	Cohort healthy volunteers given 3 different oral dose levels of ABT-773 	ABT-773									
139159		lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A	98890599	99022355		Saito, M.  et al. 2005	15752376				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				British journal of clinical pharmacology. 2005 Mar;59(3):302-9	Effects of clarithromycin on lansoprazole pharmacokinetics between CYP2C19 genotypes.		124010	21083	2	2005	 The present study indicates that there are significant drug interactions between lansoprazole and clarithromycin in all CYP2C19 genotype groups probably through CYP3A inhibition. The bioavailability of lansoprazole might, to some extent, be increased through inhibition of P-glycoprotein during clarithromycin treatment.	Cohort 18 volunteers 	clarithromycin lansoprazole									
139161	N	breast or ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	7	7q21.1	CYP3A4	99192539	99219744	n	Spurdle AB et al. 2002	12142725	CYP3A4*1B			Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		Australia	KGB	1576	Hs.567254			Pharmacogenetics. 2002 Jul;12(5):355-66	The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer.		124010	6981	1	2002	Our data suggest that the CYP3A4*1B polymorphism is not associated with risk of breast or ovarian cancer. In support of this negative finding, in-vitro functional studies indicate that NFSE genotype is not a critical factor in the transcriptional activity of the CYP3A4 5'-flanking region, and is thus unlikely to modulate CYP3A4-mediated metabolism of steroids.	Control:500/276 controls matched for age with breast cancer cases (n=500) and controls of similar age distribution matched with ovarian cancer cases (n=276);Case:951/488 breast cancer cases (n=951) and ovarian cancer:cases (n=488)										
139162	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Paris PL et al. 1999	10548319				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		California	KGB	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 1999 Oct;8(10):901-5	Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients.		124010	6982	1	1999												
139163		cholesterol	METABOLIC	MET	Hypercholesterolemia	7	7q21.1	CYP3A4	99192539	99219744		Kajinami K 2004	14697480				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			KGB	1576	Hs.567254			The American journal of cardiology. 2004 Jan;93(1):104-7	CYP3A4 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin in primary hypercholesterolemia.		124010	6983	1	2004	The A-290G variant allele was significantly associated with higher levels of post-treatment low-density lipoprotein cholesterol, whereas the M445T variant was associated with lower levels of low-density lipoprotein cholesterol before and after treatment.	Cohort 340 hypercholesterolemic patients treated with atorvastatin	atorvastatin									
139164		leukemia; leukemia, myelodysplastic (TRLIMDS)	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	7	7q21.1	CYP3A4	99192539	99219744		Naoe T  et al. 2000	11051261				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Japanese	Japan	CDC GDPinfo	1576	Hs.567254			Clinical cancer research. 2000 Oct;6(10):4091-5	Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia.		124010	10000	2	2000	the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS.	Control:150/411 150 controls (unspecified) and 411 patients with de novo acute myeloid leukemia (AML);Case:58 patients with TRL/MDS										
139165		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		van Schaik, R. H.  et al. 2000	11067821				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Dutch		CDC GDPinfo	1576	Hs.567254			Clinical chemistry. 2000 Nov;46(11):1834-6	CYP3A4-V polymorphism detection by PCR-restriction fragment length polymorphism analysis and its allelic frequency among 199 Dutch Caucasians.		124010	10001	2	2000	This study confirmed and validated a fast and simple PCR-RFLP analysis that can be applied for specific screening for the CYP3A4-V allele. This assay could greatly facilitate studies on the effect of this polymorphism in endogenous processes, environmental susceptibility to cancer, and individual ability to metabolize drugs.	Cohort 199 healthy Dutch Caucasian volunteers 										
139166	N	azoospermia	REPRODUCTION	REP	Oligospermia	7	7q21.1	CYP3A4	99192539	99219744		Yu, B.  et al. 2001	11549683				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The Journal of clinical endocrinology and metabolism. 2001 Sep;86(9):4406-11	Pharmacogenetic polymorphisms of the AR and metabolism and susceptibility to hormone-induced azoospermia.		124010	10002	2	2001	There were no significant differences in distribution of CAG and GGC triplet repeats among three groups or between them and the population controls based on the maximum likelihood estimate of the odds ratio and CLUMP II analyses. These results suggested that neither genetic polymorphisms in the AR gene (CAG and GGC repeats) nor that in hepatic androgen metabolism (CYP3A4 A/G variant) were the major contributors to the within-population variations in susceptibility to T-induced azoospermia.	Control:106 population controls;Case:75 volunteers participating in a male horomonal contraceptive study:Austrailia										
139167	N	CYP3A4 activity	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Garcia-Martin, E.  et al. 2002	11907494				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2002 Mar;71(3):196-204	CYP3A4 variant alleles in white individuals with low CYP3A4 enzyme activity.		124010	10004	2	2002	 Although the genetic component of the interindividual variability of CYP3A4 enzyme activity seems to be high, our findings do not support a key role for the variant alleles analyzed on the majority of white persons with low CYP3A4 activity. This suggests the occurrence of as yet unknown mutations that affect CYP3A4 or other functionally related genes.	Cohort persons with extremely low CYP3A4 enzyme activity 										
139168	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Spurdle, A. B.  et al. 2002	12142725				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		Australia	CDC GDPinfo	1576	Hs.567254			Pharmacogenetics. 2002 Jul;12(5):355-66	The CYP3A4*1B polymorphism has no functional significance and is not associated with risk of breast or ovarian cancer.		124010	10005	2	2002	Our data suggest that the CYP3A4*1B polymorphism is not associated with risk of breast or ovarian cancer. In support of this negative finding, in-vitro functional studies indicate that NFSE genotype is not a critical factor in the transcriptional activity of the CYP3A4 5'-flanking region, and is thus unlikely to modulate CYP3A4-mediated metabolism of steroids.	Control:500/276 controls matched for age with breast cancer cases (n=500) and controls of similar age distribution matched with ovarian cancer cases (n=276);Case:951/488 breast cancer cases (n=951) and ovarian cancer:cases (n=488)										
139169	N	leukemia, lymphoid; leukemia, myeloid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Myeloid|Neoplasms, Second Primary|Acute Disease	7	7q21.1	CYP3A4	99192539	99219744		Blanco, J. G.  et al. 2002	12439220				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Pharmacogenetics. 2002 Nov;12(8):605-11	Genetic polymorphisms in CYP3A5, CYP3A4 and NQO1 in children who developed therapy-related myeloid malignancies		124010	10006	2	2002	Our data do not support an association between common, or polymorphisms and the risk of t-ML in children treated for ALL.	Control:224 children with ALL who did not develop myelodysplastic syndrome;Case:53 hildren with ALL who did develop the complication										
139170		cholesterol, HDL; cholesterol, LDL; breast cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Zeigler-Johnson, C. M.  et al. 2002	12446983				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	African American	Ghana|Senegal|United States	CDC GDPinfo	1576	Hs.567254			Human heredity. 2002 ;54(1):13-21	Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4.		124010	10007	2	2002	 These results suggest that ethnicity-specific differences in genotype frequencies exist for SRD5A2 and CYP3A4. Africans and African-Americans have the highest frequency of those alleles that have previously been associated with increased prostate cancer risk. Future studies should address whether allele frequency differences in part explain differences in prostate cancer incidence in these populations.	Cohort 147/410/129/178 147 African Americans, 410 Caucasian-Americans, 129 Ghanaians, and 178 Senegalese 										
139171		prostatic hyperplasia	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	7	7q21.1	CYP3A4	99192539	99219744		Tayeb, M. T.  et al. 2003	12644831				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			British journal of cancer. 2003 Mar;88(6):928-32	CYP3A4 and VDR gene polymorphisms and the risk of prostate cancer in men with benign prostate hyperplasia.		124010	10009	2	2003	While independent confirmation is required in further studies, these results provide a potential tool to assist prediction strategies for this important disease.	Cohort 400 patients with benign prostatic hyperplasia 										
139172		CYP3A4 activity	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Cavaco, I.  et al. 2003	12747609				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):606-9	CYP3A4*1B and NAT2*14 alleles in a native African population.		124010	10010	2	2003	The prevalence of these variants may be relevant with regard to therapeutic efficacy in African populations for it may potentially affect drug clearance and consequently, increase the incidence of side effects and drug-drug interactions.	Cohort a population from Guinea-Bissau Guinea-Bissau 										
139173	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Dally, H.  et al. 2003	14515059				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Pharmacogenetics. 2003 Oct;13(10):607-18	The CYP3A4*1B allele increases risk for small cell lung cancer: effect of gender and smoking dose.		124010	10014	2	2003	To confirm our observation that the CYP3A4*1B allele increases SCLC risk and modifies the smoking-related lung cancer risk in a gender-specific manner, further studies, including CYP3A haplotype analysis, will be necessary.	Control:432 Caucasian hospital-based controls;Case:801 Caucasian lung cancer patients										
139174		breast cancer; prostate cancer	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Keshava, C.  et al. 2004	15496535				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		United States|Australia|Scotland	CDC GDPinfo	1576	Hs.567254			American journal of epidemiology. 2004 Nov;160(9):825-41	CYP3A4 Polymorphisms--Potential Risk Factors for Breast and Prostate Cancer: A HuGE Review		124010	10016	2	2004	HuGE Review-These observations support the notion that development of robust, conventional molecular epidemiologic case-control studies to address these questions, including gene-gene and gene-environment interactions, will be timely.	Cohort 										
139175		hypertension	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A4	99192539	99219744		Lee, S. J.  et al. 2005	15634941				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The Journal of pharmacology and experimental therapeutics. 2005 Apr;313(1):302-9	Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype.		124010	10018	2	2005	We predict that individuals who are homozygous for defective alleles of both of these genes would metabolize CYP3A substrates poorly. The new genetic tests will be useful in future clinical studies to investigate genotype/phenotype associations.	Cohort 276 racially diverse individuals Cohort 72 racially diverse individuals 										
139176		hyperlipidemia	METABOLIC	MET	Hyperlipidemias	7	7q21.1	CYP3A4	99192539	99219744		Wang, A.  et al. 2005	15650881	Ile118Val			Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese	China	CDC GDPinfo	1576	Hs.567254			European journal of clinical pharmacology. 2005 Feb;60(12):843-8	Ile118Val genetic polymorphism of CYP3A4 and its effects on lipid-lowering efficacy of simvastatin in Chinese hyperlipidemic patients		124010	10019	2	2005	 The allele frequency of CYP3A4*4 was 3.32% among the hyperlipidemic patients from the Chinese mainland. CYP3A4*4 was an allelic variant related to a functional decrease of CYP3A4 activity, and *4 expression seemed to increase the lipid-lowering effects of simvastatin.	Cohort 211 unrelated hyperlipidemic patients from hospitalized and non-hospitalized recruitment China 										
139177		lung cancer; breast cancer; liver cancer; oral cancer; prostate cancer; thyroid cancer; cervical cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Hu, Y. F.  et al. 2005	15698606				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese		CDC GDPinfo	1576	Hs.567254			Clinica chimica acta; international journal of clinical chemistry. 2005 Mar;353(2-Jan):187-92	CYP3A5*3 and CYP3A4*18 single nucleotide polymorphisms in a Chinese population.		124010	10020	2	2005	 We developed a simple assay for the detection of the CYP3A4*18 allele and showed that in a Chinese population, CYP3A4*18 and CYP3A5*3 allelic frequencies are similar to that reported previously in Chinese resident in Taiwan. The frequency of the CYP3A5*3 allele in Chinese population is similar to the Japanese but lower than Caucasians. Meanwhile, our findings suggest that an approximate 62% of the Chinese population carrying CYP3A5*3/*3 genotype may appear not to express CYP3A5 protein.	Cohort 302 Chinese subjects 										
139178		midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		He, P.  et al. 2005	15900284				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2005 May;77(5):373-87	Genotype-phenotype associations of cytochrome P450 3A4 and 3A5 polymorphism with midazolam clearance in vivo.		124010	10023	2	2005	In conclusion, these results indicate that the genetic variants identified so far in the CYP3A4 and CYP3A5 genes have only a limited impact on CYP3A-mediated drug metabolism in vivo.	Cohort 26 healthy subjects 										
139180		testicular cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Liu, C. H.  et al. 2005	16207150				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese		CDC GDPinfo	1576	Hs.567254			Pharmacogenomics. 2005 Oct;6(7):731-747	Screening CYP3A single nucleotide polymorphisms in a Han Chinese population with a genotyping chip.		124010	10031	2	2005												
139181		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	7	7q21.1	CYP3A4	99192539	99219744		Dufour, C.  et al. 2005	16079101				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Caucasian		CDC GDPinfo	1576	Hs.567254			Haematologica. 2005 Aug;90(8):1027-31	Genetic polymorphisms of CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 and the risk of acquired idiopathic aplastic anemia in Caucasian patients.		124010	10987	2	2005	 The low/null activity polymorphisms of the detoxifying enzymes CYP3A4, GSTT1, GSTM1, GSTP1 and NQO1 are not associated with the risk of developing aplastic anemia or to the response to immunosuppressive therapy in Caucasian patients.											
139182		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Fleury, I.  et al. 2004	15462611				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			American journal of pharmacogenomics. 2004 ;4(5):331-41	Polymorphisms in genes involved in the corticosteroid response and the outcome of childhood acute lymphoblastic leukemia.		124010	12964	2	2004	 A reduction in survival probability in children with ALL was associated with homozygosity for G allele of the NR3C1BclI RFLP polymorphism, particularly in certain patient subgroups. Further analysis is required to replicate this finding and to understand the mechanism underlying the observed association.	Cohort 222 children with acute lymphoblastic leukemia 	corticosteroids									
139183	Y	insulin-like growth factor-1; estrogen metabolism	UNKNOWN	UNK	Breast Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Jernstrom, H.  et al. 2001	11161840				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Molecular genetics and metabolism. 2001 Feb;72(2):144-54	Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1:implications for premenopausal breast cancer risk.		124010	16232	2	2001	Polymorphic variants in the CYP3A4, IGF1, and AIB1 genes are associated with increases in the plasma levels of IGF-I among oral contraceptive users and the variant alleles are much more common in black women than in white women. The high incidence of premenopausal breast cancer among black women may be mediated through genetic modifiers of circulating levels of IGF-I.	Cohort 503 nulligravid women between the ages of 17 and 35 										
139184		cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Hsieh, K. P.  et al. 2001	11181494				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese		CDC GDPinfo	1576	Hs.567254			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Mar;29(3):268-73	Novel Mutations of CYP3A4 in Chinese		124010	16233	2	2001	When compared with healthy Chinese population data, the 6beta-hydroxycortisol to free cortisol ratio data suggested that these alleles (CYP3A4*4, CYP3A4*5, and CYP3A4*6) may decrease the CYP3A4 activity. Incidences of these mutations in Chinese subjects are rare. The prevalence of these point mutations in other ethnic groups and its effect on the metabolic activity of CYP3A4 remain to be further evaluated.	Cohort 102 Chinese subjects 										
139185	N	midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Dai, D.  et al. 2001	11714865				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The Journal of pharmacology and experimental therapeutics. 2001 Dec;299(3):825-31	Identification of Variants of CYP3A4 and Characterization of Their Abilities to Metabolize Testosterone and Chlorpyrifos		124010	16234	2	2001	The turnover numbers of the CYP3A4 M445T and P467S alleles to metabolize these compounds were not significantly different from those of wild-type CYP3A4.	Cohort 72 individuals from three different ethnic groups, including Caucasians, Blacks (African-Americans and African pygmies), and Asians. 										
139186	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	7	7q21.1	CYP3A4	99192539	99219744		Tayeb, M. T.  et al. 2002	11956645			promoter	Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Oncology reports. 2002 May-Jun;9(3):653-5	CYP3A4 promoter variant is associated with prostate cancer risk in men with benign prostate hyperplasia.		124010	16236	2	2002	This nested case-control study assessed a CYP3A4 single nucleotide polymorphism as a risk factor for developing PRCa in patients with BPH. The CYP3A4 variant allele identified men with BPH who are at increased risk of progressing to PRCa (odds ratio 6.3, 95% CI 2.3-17.3), providing a potential tool to assist prediction strategies for this disease.	Case men with benign prostatic hyperplasia:Cohort not specified in abstract										
139187		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Kittles, R. A.  et al. 2002	12107441	CYP3A4-V			Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	African American	Nigeria|United States	CDC GDPinfo	1576	Hs.567254			Human genetics. 2002 Jun;110(6):553-60	CYP3A4-V and prostate cancer in African Americans:causal or confounding association because of population stratification?		124010	16237	2	2002	Follow-up studies on a larger dataset will be needed to confirm whether the association is indeed spurious; however, these results reveal the potential for confounding of association studies by using African Americans and the need for study designs that take into account substructure caused by differences in ancestral proportions between cases and controls.	Control age- and ethnicity-matched controls representing African Americans, Nigerians, and European:Americans;Case:688 prostate cancer patients representing African Americans, Nigerians, and European Americans										
139188	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Plummer, S. J.  et al. 2003	14504207				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		Ohio	CDC GDPinfo	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):928-32	CYP3A4 and CYP3A5 genotypes, haplotypes, and risk of prostate cancer.		124010	16243	2	2003	These findings suggest that the CYP3A4 and CYP3A5 variants, or other alleles on the haplotypes they help distinguish, are associated with prostate cancer risk and aggressiveness.	Case prostate cancer cases;Control family-based controls										
139189	N	midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Floyd, M. D.  et al. 2003	14515058				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	African American		CDC GDPinfo	1576	Hs.567254			Pharmacogenetics. 2003 Oct;13(10):595-606	Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women.		124010	16244	2	2003	In most healthy subjects, variability in intestinal and hepatic CYP3A activity, using midazolam as an in-vivo probe, is modest and common polymorphisms in CYP3A4 and CYP3A5 do not appear to have important functional significance.	Cohort 57 	midozolam rifampin									
139190		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	7	7q21.1	CYP3A4	99192539	99219744		Kajinami, K.  et al. 2004	14697480				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The American journal of cardiology. 2004 Jan;93(1):104-7	CYP3A4 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin in primary hypercholesterolemia		124010	16247	2	2004	The A-290G variant allele was significantly associated with higher levels of post-treatment low-density lipoprotein cholesterol, whereas the M445T variant was associated with lower levels of low-density lipoprotein cholesterol before and after treatment.	Cohort 340 hypercholesterolemic patients treated with atorvastatin 	atorvastatin									
139191		CYP3A activity	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Eap, C. B.  et al. 2004	15114431				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			European journal of clinical pharmacology. 2004 Jun;60(4):231-6	Pharmacokinetics of midazolam in CYP3A4- and CYP3A5-genotyped subjects.		124010	16248	2	2004	 Presently, CYP3A4 and CYP3A5 genotyping methods do not sufficiently reflect the inter-individual variability of CYP3A activity.	Cohort 21 heatly subjects 	Midazolam									
139192	Y	drug genotoxicity	METABOLIC	MET	Leukemia, Lymphocytic, Acute, L1|Neoplasms, Second Primary|Drug Toxicity	7	7q21.1	CYP3A4	99192539	99219744		Lopes, L. F.  et al. 2004	15475069				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Leukemia research. 2004 Dec;28(12):1281-6	Association of CYP3A4 genotype with detection of Vgamma/Jbeta trans-rearrangements in the peripheral blood leukocytes of pediatric cancer patients undergoing chemotherapy for ALL.		124010	16249	2	2004	This provides a direct link between CYP3A4 genotype and susceptibility to drug genotoxicity thus strengthening the possibility that predisposition to treatment related leukemia may be measurable by simple genetic testing.	Cohort patients receiving treatment for acute lymphocystic leukemia 	chemotherapy									
139193	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Mathijssen, R. H.  et al. 2004	15523087				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Journal of the National Cancer Institute. 2004 Nov;96(21):1585-92	Prediction of irinotecan pharmacokinetics by use of cytochrome P450 3A4 phenotyping probes.		124010	16251	2	2004	 CYP3A4 phenotype, as assessed by midazolam clearance, is statistically significantly associated with irinotecan pharmacokinetics. Evaluation of midazolam clearance combined with UGT1A1*28 genotyping may assist with optimization of irinotecan chemotherapy.	Cohort 30 white cancer patients 										
139194	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Powell, I. J.  et al. 2004	15540736				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The Journal of urology. 2004 Nov;172(5 Pt 1):1848-52	CYP3A4 genetic variant and disease-free survival among white and black men after radical prostatectomy.		124010	16252	2	2004	 The CYP3A4 genotype studied was not associated with pathological features of prostate cancer for men of either race. Unstratified analyses of men of both races and stratified analyses of white men demonstrated poorer PFS after prostatectomy for those with the G allele, but the G allele did not predict PFS among black men.	Cohort 428/309 white (n=428) and black (n=309) men 										
139195	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Zeigler-Johnson, C.  et al. 2004	15548719				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Cancer research. 2004 Nov;64(22):8461-7	CYP3A4, CYP3A5, and CYP3A43 genotypes and haplotypes in the etiology and severity of prostate cancer.		124010	16253	2	2004	The observation that CYP3A4 and CYP3A43 were associated with prostate cancer, are not in linkage equilibrium, and are both involved in testosterone metabolism, suggest that both CYP3A4*1B and CYP3A43*3 may influence the probability of having prostate cancer and disease severity.	Control:396:controls;Case:622 incident prostate cancer cases										
139196		CYP3A4 activity	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Yamamoto, T.  et al. 2003	15618745	CYP3A4*18			Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Japanese		CDC GDPinfo	1576	Hs.567254			Drug metabolism and pharmacokinetics. 2003 ;18(4):267-8	CYP3A4(*)18: It is not Rare Allele in JapanesePopulation		124010	16254	2	2003	Thus, we investigated the frequency of CYP3A4(*)18 in 118 Japanese population using polymerase chain reaction-restriction fragment length polymorphism with Msp I and determined that the frequency of the CYP3A4(*)18 allele was 1.3%.	Cohort 118 Japanese subjects 										
139197		testicular cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Wen, S.  et al. 2004	15684873				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese		CDC GDPinfo	1576	Hs.567254			Genetic testing. 2004 ;8(4):411-6	Screening of 12 SNPs of CYP3A4 in a Chinese population using oligonucleotide microarray.		124010	16256	2	2004	The genotyping results of the 18 heterozygous subjects and 12 wild-type subjects were validated by direct sequencing.	Cohort 387 Chinese DNA samples 										
139198		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Garsa, A. A.  et al. 2005	15882469				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			BMC medical genetics [electronic resource]. 2005 May;6:19	CYP3A4 and CYP3A5 genotyping by Pyrosequencing.		124010	16259	2	2005	 Pyrosequencing is a versatile technique that could improve the efficiency of SNP analysis for pharmacogenomic research with the ultimate goal of pre-screening patients for individual therapy selection.	Cohort 95/95 healthy European (n=95) and healthy African (n=95) volunteers 										
139199	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	7	7q21.1	CYP3A4	99192539	99219744		Xin, X.  et al. 2005	15896485				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese	Taiwan	CDC GDPinfo	1576	Hs.567254			Neuroscience letters. 2005 Jun;381(3):284-8	Association study of four activity SNPs of CYP3A4 with the precocious puberty in Chinese girls.		124010	16260	2	2005	The result suggests that these mutations in the CYP3A4 gene have no contribution to the early onset of puberty in Chinese girls, but are related in some way with the puberty development in Chinese girls.	Case:176 girls with precocious puberty;Control:192 normal girls										
139201		CYP3A activity	METABOLIC	MET	Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Lepper, E. R.  et al. 2005	16243813				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical cancer research. 2005 Oct;11(20):7398-404	Effect of common CYP3A4 and CYP3A5 variants on the pharmacokinetics of the cytochrome P450 3A phenotyping probe midazolam in cancer patients.		124010	16264	2	2005	 The studied genetic variants in CYP3A4 and CYP3A5 are unlikely to have an important functional significance to phenotypic CYP3A activity in patients with cancer.											
139202		HIV; CYP3A activity; prostate cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Cavaco, I.  et al. 2003	14580164				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Portuguese		CDC GDPinfo	1576	Hs.567254			Clinical chemistry and laboratory medicine. 2003 Oct;41(10):1345-50	CYP3A4 and MDR1 alleles in a Portuguese population.		124010	21084	2	2003	We observed a frequency of 4.0% for CYP3A4*1B, not significantly different from that reported on other Caucasian European populations. CYP3A4*2 was found at an allele frequency of 4.5%, constituting the first report of the presence of this allele outside the Finnish population. Significant differences were found concerning the MDR1 C3435T SNP frequency (64.5%) compared with other European populations, while no differences were found concerning G2677T (47.5%) or T-129C (5%) SNPs. Linkage between the C3435T and G2677T SNPs was observed, although not as evidently as documented in other Caucasian populations. No preferential associations were detected between CYP3A4 and MDR1 alleles.	Cohort Portuguese Caucasians 										
139203		kidney transplant complications	IMMUNE	IMM		7	7q21.1	CYP3A4	99192539	99219744		Hesselink, D. A.  et al. 2003	12966368				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2003 Sep;74(3):245-54	Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus.		124010	21085	2	2003	 As a group, patients with the CYP3A5*3/*3 genotype require less tacrolimus to reach target predose concentrations compared with CYP3A5*1 allele carriers, whereas CYP3A4*1B carriers require more tacrolimus to reach target trough concentrations compared with CYP3A4*1 homozygotes.	Cohort 110/64 kidney transplant recipients receiving cyclosporine (n = 110) or tacrolimus (n = 64) 	cyclosporine tacrolimus									
139204		kidney transplant; cyclospoine pharmacokinetics; heart transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Hesselink, D. A.  et al. 2004	15592326				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2004 Dec;76(6):545-56	Population pharmacokinetics of cyclosporine in kidney and heart transplant recipients and the influence of ethnicity and genetic polymorphisms in the MDR-1, CYP3A4, and CYP3A5 genes.		124010	21086	2	2004	 Patients carrying a CYP3A4*1B variant allele have a significantly higher oral cyclosporine clearance compared with patients homozygous for CYP3A4*1 . However, this genetic effect on cyclosporine disposition was small, and genotyping of transplant recipients for CYP3A4 is thus unlikely to assist in planning initial cyclosporine dosing.	Cohort 151 heart and kidney transplant recipients 										
139205		renal transplant	UNKNOWN	UNK		7	7q21.1	CYP3A4	99192539	99219744		Anglicheau, D.  et al. 2005	15707415				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			American journal of transplantation. 2005 Mar;5(3):595-603	Consequences of genetic polymorphisms for sirolimus requirements after renal transplant in patients on primary sirolimus therapy.		124010	21087	2	2005	These findings suggest that the variations in SRL requirements are secondary to both genetic and non-genetic factors including pharmacokinetic interactions. In patients with SRL-based therapy, genotyping of the CYP3As genes may help to optimize the SRL management in transplant recipients.	Cohort 149 renal transplant recipients 	sirolimus									
139206		liver transplant; prostate cancer; premature ovarian failure; lupus nephritis	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Gervasini, G.  et al. 2005	16306861				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Therapeutic drug monitoring. 2005 Dec;27(6):819-21	Differences in CYP3A5*3 Genotype Distribution and Combinations With Other Polymorphisms Between Spaniards and Other Caucasian Populations.		124010	21088	2	2005												
139207		cholesterol, HDL; cholesterol, LDL; leukemia; 9-hydroxyrisperidone; risperidone	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Goh, B. C.  et al. 2002	12202670				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Journal of clinical oncology. 2002 Sep;20(17):3683-90	Explaining interindividual variability of docetaxel pharmacokinetics and pharmacodynamics in Asians through phenotyping and genotyping strategies.		124010	21089	2	2002	 Midazolam may be used as a probe drug for CYP3A activity to predict docetaxel clearances, hence reducing interindividual variability. Homozygotes for CYP3A5*3 and C3435T of MDR1 are common in our population, and their effects on pharmacokinetics of relevant substrates should be studied further.	Cohort 32 patients 	docetaxelMidazolam									
139208		hypercholesterolemia; drug hypersensitivity	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744			16321621				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2005 Nov;78(5):551-8	The role of common variants of ABCB1, CYP3A4, and CYP3A5 genes in lipid-lowering efficacy and safety of simvastatin treatment		124010	21090	2	2005	 Our data suggest an association of ABCB1 gene polymorphisms and the efficacy and safety of simvastatin.		simvastatin									
139209		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	7	7q21.1	CYP3A4	99192539	99219744		Kishi, S.  et al. 2003	12969965				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Blood. 2004 Jan;103(1):67-72	Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.		124010	21091	2	2003	The UGT1A1 6/6 genotype predicted lower catechol AUC. Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race.	Cohort children with acute lymphoblastic leukemia 	prednisone									
139210		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Nam, R. K.  et al. 2003	14693733				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1429-37	Comprehensive assessment of candidate genes and serological markers for the detection of prostate cancer.		124010	21092	2	2003	The GST-T1 and IGF-I polymorphisms demonstrated modest associations with prostate cancer risk. IGF-I levels were not helpful in identifying patients with prostate cancer at the time of biopsy.	Case:483 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE with prostate cancer;Control:548 men who underwent one or more prostate biopsies because of an elevated PSA level or an abnormal DRE who had no cancer										
139211		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Pakakasama, S.  et al. 2005	15981231				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		Thailand	CDC GDPinfo	1576	Hs.567254			American journal of hematology. 2005 Jul;79(3):202-5	Polymorphisms of drug-metabolizing enzymes and risk of childhood acute lymphoblastic leukemia.		124010	21093	2	2005												
139212	N	methadone toxicity; etizolam pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Yu, B. N.  et al. 2003	12975335				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Drug metabolism and disposition:  the biological fate of chemicals. 2003 Oct;31(10):1255-9	Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19.		124010	21094	2	2003	The results show that CYP3A4 is not the major enzyme in the N-demethylation of citalopram among extensive metabolizers. The polymorphism of CYP2C19 plays an important role in the N- demethylation of citalopram in vivo. The extensive metabolizers and poor metabolizers of CYP2C19 had significant difference in disposition of citalopram in vivo.		citalopram									
139213	Y	omeprazole metabolism; sulfone metabolism	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		He, N.  et al. 2003	12623762				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Xenobiotica; the fate of foreign compounds in biological systems. 2003 Feb;33(2):211-21	Inhibitory effect of troleandomycin on the metabolism of omeprazole is CYP2C19 genotype-dependent.		124010	21095	2	2003	The effect of TAO on the metabolism of OP and its two principal metabolites differs in different genotype groups of CYP2C19. CYP3A4 not only plays a dominant role in the formation of OP sulfone, but also it contributes to the 5-hydroxylation of OP. Both CYP2C19 and CYP3A contribute to the further elimination of 5-OH-OP and OP sulfone.	Cohort 18 healthy male subjects 	omeprazole sulfone									
139214		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastritis|Peptic Ulcer	7	7q21.1	CYP3A4	99192539	99219744		Sapone, A.  et al. 2003	12809821				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Caucasian		CDC GDPinfo	1576	Hs.567254			The American journal of gastroenterology. 2003 May;98(5):1010-5	The clinical role of cytochrome p450 genotypes in Helicobacter pylori management.		124010	21096	2	2003	 This first pharmacogenomics study on the influence of different CYP genotypes on H. pylori therapy suggests that, as in Asian populations, CYP2C19 genotype patterns are probably also relevant in Caucasians receiving H. pylori eradication regimens that include omeprazole. The possibility of a favorable drug interaction mediated by CYP2C19 and CYP3A4 requires investigation.	Cohort 143 consecutive Italian Caucasian patients with H. pylori infection diagnosed and treated with 1-wk triple therapy according to European Helicobacter Pylori Study Group guidelines 	H. pylori therapy omeprazole									
139215		lansoprazole phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Yasui-Furukori, N.  et al. 2004	15496639				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Journal of clinical pharmacology. 2004 Nov;44(11):1223-9	Effects of fluvoxamine on lansoprazole pharmacokinetics in relation to CYP2C19 genotypes.		124010	21097	2	2004	The present study indicates that there are significant drug interactions between lansoprazole and fluvoxamine in EMs. CYP2C19 is predominantly involved in lansoprazole metabolism in EMs.	Cohort 18 volunteers 	fluvoxamine lansoprazole									
139216		loratadine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A4	99192539	99219744		Yin, O.  et al. 2005	15932952				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Chinese		CDC GDPinfo	1576	Hs.567254			Drug metabolism and disposition:  the biological fate of chemicals. 2005 Sep;33(9):1283-7	Effect of cyp2d6*10 allele on the pharmacokinetics of loratadine in chinese subjects.		124010	21098	2	2005	The results demonstrated that CYP2D6 polymorphism prevalent in the Chinese population significantly affected loratadine pharmacokinetics.	Cohort 17 healthy male Chinese subjects 										
139217		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	7	7q21.1	CYP3A4	99192539	99219744		Tiwari, A. K.  et al. 2005	15820320				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		India	CDC GDPinfo	1576	Hs.567254			Schizophrenia research. 2005 Jun;75(1):21-6	Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: III. Lack ofassociation of CYP3A4 and CYP2D6 gene polymorphisms.		124010	21099	2	2005	No significant association of either of the two SNPs with TD (CYP3A4*1B chi(2)=0. 308, df=1, p=0.579; CYP2D6*4 chi(2)=0.006, df=1, p=0.935) was observed. However a trend towards increased severity of TD in patients heterozygous for the CYP2D6*4 mutation was observed.	Cohort 335 chronic schizophrenic patients north India 										
139218	N	nephropathy	RENAL	REN	Balkan Nephropathy|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Atanasova, S. Y.  et al. 2005	15708542				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical biochemistry. 2005 Mar;38(3):223-8	Genetic polymorphisms of cytochrome P450 among patients with Balkan endemic nephropathy (BEN).		124010	21100	2	2005	 Our results demonstrate that the CYP3A5*1 allele, previously reported as a marker for CYP3A5 expression in human kidney, is associated with increased risk for BEN, while CYP3A4*1B and CYP2D6 genotypes do not significantly modify the risk for the disease.	Control:112 healthy Bulgarians from nonendemic areas;Case:96 nonrelated Bulgarian Balkan endemic nephropathy patients from endemic villages Vratza district, Bulgaria										
139219		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Chowbay, B.  et al. 2005	15931768				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		124010	24275	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
139220		testicular cancer	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Starr, J. R.  et al. 2005	16172230				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2183-90	Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.		124010	24276	2	2005												
139221		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Central Nervous System Diseases	7	7q21.1	CYP3A4	99192539	99219744		Haas, D. W.  et al. 2004	15622315				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	African American		CDC GDPinfo	1576	Hs.567254			AIDS (London, England). 2004 Dec;18(18):2391-400	Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical TrialsGroup study.		124010	24277	2	2004	 A CYP2B6 allelic variant that is more common in African-Americans than in Europeans-Americans was associated with significantly greater efavirenz plasma exposure during HIV therapy. Inter-individual differences in metabolism may, in part, explain susceptibility to efavirenz central nervous system side effects.	Cohort 89/50/15 European-Americans (n=89), African-Americans (n=50) and Hispanics (n=15) HIV infected subjects in a 24 week cohort 										
139222		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Ovarian Neoplasms|Thrombocytopenia|Leukopenia|Nausea|Vomiting	7	7q21.1	CYP3A4	99192539	99219744		Nakajima, M.  et al. 2005	15901749				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Japanese	Japan	CDC GDPinfo	1576	Hs.567254			Journal of clinical pharmacology. 2005 Jun;45(6):674-82	Pharmacokinetics of paclitaxel in ovarian cancer patients and genetic polymorphisms of CYP2C8, CYP3A4, and MDR1.		124010	24278	2	2005	Genotyping of the CYP2C8, CYP3A4, and MDR1 genes might not be essential to predict adverse effects of paclitaxel in Japanese patients, although an allelic variant of MDR1 may functionally affect the pharmacokinetics of its metabolite.	Cohort Japanese ovarian cancer patients 										
139223		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Henningsson, A.  et al. 2005	16299241				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical cancer research. 2005 Nov;11(22):8097-104	Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel.		124010	24279	2	2005	 This study indicates that the presently evaluated variant alleles in the CYP2C8, CYP3A4, CYP3A5, and ABCB1 genes do not explain the substantial interindividual variability in paclitaxel pharmacokinetics.											
139224		methadone toxicity	PHARMACOGENOMIC	PHARM	Poisoning	7	7q21.1	CYP3A4	99192539	99219744		Wong, S. H.  et al. 2003	14640293				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Journal of forensic sciences. 2003 Nov;48(6):1406-15	Pharmacogenomics as an aspect of molecular autopsy for forensic pathology/toxicology: does genotypingCYP 2D6 serve as an adjunct for certifying methadone toxicity?		124010	24280	2	2003	Thus, CYP 2D6 mutations may not yet be directly associated with methadone toxicity. However, pharmacogenomics, complementing other case findings, served as an adjunct in interpreting methadone toxicity of poor and intermediate metabolizers.	Case:21 methadone cases from the Milwaukee County Medical Examiner's Office:1998-2000;Control:23:controls										
139227	N	menarche	REPRODUCTION	REP		7	7q21.1	CYP3A4	99192539	99219744		Lai, J.  et al. 2001	11749050				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Molecular genetics and metabolism. 2001 Dec;74(4):449-57	CYP gene polymorphisms and early menarche.		124010	25943	2	2001	The polymorphic variants of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes are unlikely to influence age of menarche.	Cohort 583 nulliparous women between ages 17 and 35, of various ethnic backgrounds 										
139228		puberty onset	UNKNOWN	UNK	Breast Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Kadlubar, F. F.  et al. 2003	12692107				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Caucasian	New York	CDC GDPinfo	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 2003 Apr;12(4):327-31	The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer.		124010	25944	2	2003	CYP1B1, CYP3A4, and CYP3A5 rapid variants were more common in African-American than in Hispanic or Caucasian girls.	Cohort 137 healthy nine-year-old-girls from two pediatric clinics 										
139229		HIV	INFECTION	INF	HIV Infections	7	7q21.1	CYP3A4	99192539	99219744		Haas, D. W.  et al. 2005	16267764				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The Journal of infectious diseases. 2005 Dec;192(11):1931-42	Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials GroupStudy.		124010	25945	2	2005	 Genetic variants predict plasma exposure to efavirenz and nelfinavir, and they may predict virologic failure and/or emergence of drug-resistant virus. These associations with treatment responses must be validated in other studies.		efavirenz nelfinavir									
139230		HIV infection	INFECTION	INF	HIV Infections	7	7q21.1	CYP3A4	99192539	99219744		Fellay, J.  et al. 2002	11809184				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Lancet. 2002 Jan;359(9300):30-6	Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: apharmacogenetics study.		124010	25946	2	2002	The polymorphism MDR1(ABCB1) 3435 C/T predicts immune recovery after initiation of antiretroviral treatment. This finding suggests that P-glycoprotein has an important role in admittance of antiretroviral drugs to restricted compartments in vivo.	Cohort 123 HIV-1-infected patients 	antiretroviral									
139231	Y	liver cancer; liver disease	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Silvestri, L.  et al. 2003	12569554				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			International journal of cancer. Journal international du cancer. 2003 Apr;104(3):310-7	CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer		124010	26837	2	2003	Polymorphic variants of CYP genes may contribute to the progression of liver disease and HCC risk in HCV-infected subjects.	Case:87/92/91 chronic hepatitis (n=87), cirrhosis (n=92) and hepatocellular carcinoma (n=91) cases;Control:90/99 asymptomatic carriers (n=90) of chronic hepatitis and blood donors (n=99)	hepatitis C									
139232		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Le Marchand, L.  et al. 2005	16103451				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Cancer epidemiology, biomarkers & prevention. 2005 Aug;14(8):1998-2003	Estrogen metabolism-related genes and breast cancer risk: the multiethnic cohort study.		124010	27408	2	2003												
139233		cancer	CANCER	CAN		7	7q21.1	CYP3A4	99192539	99219744		Mathijssen, R. H.  et al. 2003	12960109				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		124010	27700	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
139234		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Landi, S.  et al. 2005	16006997				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		124010	28219	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
139235		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	7	7q21.1	CYP3A4	99192539	99219744		Watanabe, I.  et al. 2003	12732844				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3	Japanese	Japan	CDC GDPinfo	1576	Hs.567254			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		124010	28282	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
139236		renal transplant	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Thervet E 2003	14578760				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			KGB	1577	Hs.150276			Transplantation. 2003 Oct;76(8):1233-5	Impact of cytochrome p450 3A5 genetic polymorphism on tacrolimus doses and concentration-to-dose ratio in renal transplant recipients.		605325	6984	1	2003	 Determination of CYP3A5 genotype is predictive of the dose of tacrolimus in renal transplant recipients and may help to determine the initial daily dose needed by individual patients for adequate immunosuppression without excess nephrotoxicity.		tacrolimus									
139237		esophageal cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Chou, F. C.  et al. 2001	11502729				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese		CDC GDPinfo	1577	Hs.150276			Drug metabolism and disposition:  the biological fate of chemicals. 2001 Sep;29(9):1205-9	Genetic polymorphism of cytochrome P450 3A5 in Chinese.		605325	10036	2	2001	we found that 28% of CYP3AP1 alleles are G(-44) in 110 Chinese subjects. The frequency is 3 times higher in Chinese than in Caucasian, implying more Chinese subjects are probably extensive CYP3A5 metabolizers.	Cohort 110 Chinese subjects 										
139238	N	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Myelodysplastic Syndromes|Acute Disease	7	7q21.1	CYP3A5	99083752	99170757		Liu, T. C.  et al. 2002	11836601				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2		Taiwan	CDC GDPinfo	1577	Hs.150276			Oncology reports. 2002 Mar-Apr;9(2):327-9	Polymorphism analysis of CYP3A5 in myeloid leukemia.		605325	10037	2	2002	Consequently, the finding suggests that the CYP3A5 polymorphism was not associated with the risk of myeloid leukemia.	Case:101 chronic myeloid leukemia (CML) cases;Case:188 acute myeloid leukemia (AML) patients;Control:270 normal controls;Case:40 myelodysplastic syndrome cases										
139240		lung cancer; breast cancer; liver cancer; oral cancer; thyroid cancer; cervical cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Balram, C.  et al. 2003	12756511				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese		CDC GDPinfo	1577	Hs.150276			European journal of clinical pharmacology. 2003 Jun;59(2):123-6	CYP3A5*3 and *6 single nucleotide polymorphisms in three distinct Asian populations.		605325	10039	2	2003	 These results seem to suggest that genetic polymorphisms in CYP3A5 in Asians, in particular Malays and Indians but also Chinese although to a lesser extent, may be an important genetic contributor to interindividual as well as interethnic differences in clearance of CYP3A substrates.	Cohort 296 healthy subjects (108 Chinese, 98 Malays and 90 Indians) China, Malasia, India 										
139241		esophageal cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Lee, S. J.  et al. 2003	12893984				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2003 Aug;13(8):461-72	Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groups.		605325	10040	2	2003	 This study identifies four new potentially defective coding alleles. CYP3A5 F446S is predicted to be more catalytically defective than the splice change alone.	Cohort 92 racially diverse individuals (24 Caucasians, 24 Africans, 24 Asians, and 20 individuals of unknown racial origin) 										
139242		testicular cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Saeki, M.  et al. 2003	14961555				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Japanese		CDC GDPinfo	1577	Hs.150276			Human mutation. 2003 Jun;21(6):653	Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population		605325	10041	2	2003	Our findings suggest that CYP3A5*3 is the major defective allele and that other functional exonic SNPs are rare in the Japanese.	Cohort individuals from a Japanese population Japan 										
139243	Y	cholesterol; cholesterol, LDL	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Kivisto, K. T.  et al. 2004	15284534				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2004 Aug;14(8):523-5	Lipid-lowering response to statins is affected by CYP3A5 polymorphism		605325	10042	2	2004	These findings suggest that CYP3A5 may be a genetic determinant of interindividual differences in response to certain statins.	Cohort 69 Caucasian hyperlipidemic patients 	atorvastatin lovastatin simvastatin									
139244	Y	cyclosporine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Min, D. I.  et al. 2004	15385835				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	African American		CDC GDPinfo	1577	Hs.150276			Therapeutic drug monitoring. 2004 Oct;26(5):524-8	CYP3A5 polymorphism and the ethnic differences in cyclosporine pharmacokinetics in healthy subjects.		605325	10043	2	2004	In conclusion, the CYP3A5*3C polymorphism appears to affect AUC and CL/F of oral CsA significantly in healthy subjects, which may partly explain some of the differences of pharmacokinetics in CsA between African Americans and whites.	Cohort 16 healthy subjects 										
139245	Y	aflatoxin-albumin	OTHER	OTH	Carcinoma, Hepatocellular|Liver Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Wojnowski, L.  et al. 2004	15454734				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Gambian	Gambia	CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2004 Oct;14(10):691-700	Increased levels of aflatoxin-albumin adducts are associated with CYP3A5 polymorphisms in The Gambia, West Africa		605325	10044	2	2004	 The CYP3A5 polymorphism is associated with increased levels of the mutagenic AFB1-exo-8,9-epoxide, particularly in individuals with low CYP3A4, and this may modulate individual risk of HCC.	Cohort 288 Gambian subjects 										
139246	Y	breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Tucker, A. N.  et al. 2005	15596297				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Cancer letters. 2005 Jan;217(1):61-72	Polymorphisms in cytochrome P4503A5 (CYP3A5) may be associated with race and tumor characteristics, but not metabolism and side effects of tamoxifen in breast cancer patients.		605325	10045	2	2005	Taken together, these data suggest that racial differences in CYP3A5 polymorphisms exist although the polymorphisms do not appear to be associated with levels of TAM metabolites and side effects.	Cohort 98 postmenopausal women with breast cancer recruited from a single cancer center 										
139247		tacrolimus pharmacokinetics; cyclosporine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Zhao, Y.  et al. 2005	15808586				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplantation proceedings. 2005 Jan-Feb;37(1):178-81	Genetic polymorphisms of CYP3A5 genes and concentration of the cyclosporine and tacrolimus.		605325	10046	2	2005	 Patients with the CYP3A5*3/*3 genotype require less tacrolimus to reach target concentrations compared to those with the CYP3A5*1 allele.	Cohort 137/30 kidney transplant patients receiving cyclosporine (n=137) or tacrolimus (n=30) 										
139248		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Roy, J. N.  et al. 2005	15833928				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Drug metabolism and disposition:  the biological fate of chemicals. 2005 Jul;33(7):884-7	CYP3A5 genetic polymorphisms in different ethnic populations.		605325	10047	2	2005	These differences may reflect evolutionary pressures generated by environmental factors in geographically distinct regions. However, the genetic polymorphism of Cyp3A5 alone does not explain the interindividual differences in Cyp3A mediated metabolism.	Cohort individuals from different Caucasian and African indigenous populations 										
139249	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Zhenhua, L.  et al. 2005	15876487				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Japanese	Japan	CDC GDPinfo	1577	Hs.150276			Cancer letters. 2005 Jul;225(2):237-43	CYP3A5 gene polymorphism and risk of prostate cancer in a Japanese population		605325	10048	2	2005	The CYP3A5 A6986G polymorphism may be specifically associated with a decreased risk of low-grade or early stage prostate cancer.	Control:199/212 benign prostatic hyperplasia patients (n=199) and male controls (n=212);Case:260 prostate cancer patients										
139250		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Wang, H.  et al. 2005	16086282				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):423-6	[Study on polymorphisms of CYP3A5 gene and their clinical role]		605325	10049	2	2005	 CYP3A5*3 is the primary allelic variant in Chinese population. CYP3A5 genotypes are closely associated with blood CsA concentrations in hemopoietic stem cell transplant recipients, and CYP3A5*1/*1 requires a larger CsA dose to maintain the same blood concentration than does CYP3A5*1/*1. CYP3A5 genotyping by DHPLC may predict recipients' phenotype and CsA dose requirement.											
139251		cholesterol; cholesterol, LDL	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Fukuen, S.  et al. 2002	12042671				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Japanese		CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2002 Jun;12(4):331-4	Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A5*3 and *6, in a Japanese population.		605325	16267	2	2002	This result suggests that an estimated 40% of the Japanese express relatively high levels of metabolically active CYP3A5 protein. The proposed detection assays are useful for screening the CYP3A5 related SNPs in pharmacogenetic research.	Cohort 200 healthy Japanese male subjects 										
139253		CYP3A5 levels	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		King, B. P.  et al. 2003	12814460				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			British journal of clinical pharmacology. 2003 Jun;55(6):625-9	CYP3A5 phenotype-genotype correlations in a British population.		605325	16269	2	2003	 We have developed a simple assay for the detection of the CYP3A5*1/CYP3A5*3 alleles and shown that in a British population their frequency is similar to that reported previously. We have also shown a good correlation between hepatic CYP3A5 expression and genotype for a British Caucasian liver bank.	Cohort 22/100 DNA samples from a human liver bank (n=22) and a group of random individuals (n=100) North-east England 										
139254	Y	lung cancer; breast cancer; liver cancer; oral cancer; thyroid cancer; cervical cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Yeh, K. T.  et al. 2003	12822676				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Taiwanese		CDC GDPinfo	1577	Hs.150276			The Kaohsiung journal of medical sciences. 2003 May;19(5):201-7	CYP3A5*1 is an inhibitory factor for lung cancer in Taiwanese.		605325	16270	2	2003	We suggest that CYP3A5*1 may play an important role in individual predisposition to lung cancer in Taiwan.	Case:113/70/92/82/90/133 Taiwanese patients with hepatoma (n=113), with cervical cancer (n=70) , with breast cancer (n=92), with oral cancer (n=82), with thyroid cancer (n=90), and with lung cancer (n=133):Taiwan;Control:270 healthy controls										
139255		nifedipine disposition	OTHER	OTH		7	7q21.1	CYP3A5	99083752	99170757		Fukuda, T.  et al. 2003	14647405				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			The pharmacogenomics journal. 2004 ;4(1):34-9	CYP3A5 genotype did not impact on nifedipine disposition in healthy volunteers.		605325	16271	2	2003	Based on the present findings, the functional relevance of CYP3A5 polymorphism should be re-evaluated in clinical trials.	Cohort 16 healthy male Japanese subjects 	nifedipine									
139256		midazolam pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Yu, K. S.  et al. 2004	15289787				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2004 Aug;76(2):104-12	Effect of the CYP3A5 genotype on the pharmacokinetics of intravenous midazolam during inhibited and induced metabolic states.		605325	16272	2	2004	 The CYP3A5 genotype did not affect the pharmacokinetics of intravenous midazolam in the basal or induced states. However, during cytochrome P450 (CYP) 3A inhibition by itraconazole, individuals carrying the CYP3A5*1 allele were found to be less susceptible to changes in systemic clearance and showed higher 1'-hydroxymidazolam-to-midazolam area under the plasma concentration-time curve ratios, probably resulting from the relatively CYP3A4-specific inhibition caused by itraconazole.	Cohort 19 healthy volunteers 										
139257	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q21.1	CYP3A5	99083752	99170757		Ho, H.  et al. 2004	15596575				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Hypertension. 2005 Feb;45(2):294-8	Association between the CYP3A5 genotype and blood pressure.		605325	16273	2	2004	We conclude that  although untreated blood pressure may be higher in blacks with the CYP3A5*3/*3 genotype, the CYP3A5*1 allele may be associated with hypertension that is more refractory to treatment in this ethnic group.	Cohort 271 subjects who were part of a longitudinal study conducted at Indiana University Medical Center Indiana, San Diego Cohort 412 normotensive and hypertensive subjects conducted at the University of California San Diego 										
139258	Y	kidney transplant	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Macphee, I. A.  et al. 2005	15729180	CYP3A5*1			Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplantation. 2005 Feb;79(4):499-502	Tacrolimus pharmacogenetics: the CYP3A5*1 allelepredicts low dose-normalized tacrolimus blood concentrations in whites and South Asians.		605325	16274	2	2005	Determination of the CYP3A5*1/*3 genotype could be used to predict the tacrolimus dose requirement and, given incomplete linkage, would be better than determination of the CYP3AP1 genotype.	Cohort 180 Caucasian and South Asian kidney-only transplant recipients from a single center 	tacrolimus									
139259		esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Dandara, C.  et al. 2005	15978331				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	South African	South Africa	CDC GDPinfo	1577	Hs.150276			Cancer letters. 2005 Jul;225(2):275-82	CYP3A5 genotypes and risk of oesophageal cancer in two South African populations.		605325	16275	2	2005												
139260	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A5	99083752	99170757		Fromm, M. F.  et al. 2005	16141800				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics and genomics. 2005 Oct;15(10):737-41	CYP3A5 genotype is associated with elevated blood pressure.		605325	16276	2	2005												
139261		midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Fredericks, S.  et al. 2005	16168193				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Annals of clinical biochemistry. 2005 Sep;42(Pt 5):376-81	Genotyping cytochrome P450 3A5 using the Light Cycler.		605325	16277	2	2005												
139262		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Dandara, C.  et al. 2005	16272171				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Carcinogenesis. 2005	Gene-environment interaction: the role of SULT1A1and CYP3A5 polymorphisms as risk modifiers for squamous cell carcinoma of the esophagus.		605325	16278	2	2005			alcohol charcoal burning smoking (tobacco) wood burning									
139263		blood pressure, arterial	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A5	99083752	99170757		Kreutz, R.  et al. 2005	16272955				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics and genomics. 2005 Dec;15(12):831-7	The role of the cytochrome P450 3A5 enzyme for blood pressure regulation in the general Caucasian population.		605325	16279	2	2005			salt									
139264	Y	lung transplant complications	OTHER	OTH		7	7q21.1	CYP3A5	99083752	99170757		Zheng, H.  et al. 2004	14747421				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of clinical pharmacology. 2004 Feb;44(2):135-40	Tacrolimus dosing in adult lung transplant patients is related to cytochrome P4503A5 gene polymorphism.		605325	21102	2	2004	The authors therefore conclude that tacrolimus dosing in adult lung transplant patients is associated with CYP3A5 gene polymorphisms.	Cohort adult lung transplant patients who had been followed for at least 1 year after lung transplantation 										
139265	N	kidney transplant complications	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Anglicheau, D.  et al. 2004	15116055				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2004 May;75(5):422-33	CYP3A5 and MDR1 genetic polymorphisms and cyclosporine pharmacokinetics after renal transplantation.		605325	21103	2	2004	 The presence of the CYP3A5 SNP does not explain the high variability of cyclosporine pharmacokinetics in stable renal transplant patients. Despite the weak association found for the MDR1 C1236T SNP, MDR1 SNPs are unlikely to be useful for cyclosporine dose optimization in clinical practice.	Cohort 106 renal transplant patients 	cyclosporin A									
139266		kidney transplant complications	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Haufroid, V.  et al. 2004	15167702				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2004 Mar;14(3):147-54	The effect of CYP3A5 and MDR1 (ABCB1) polymorphisms on cyclosporine and tacrolimus dose requirements and trough blood levels in stable renal transplant patients		605325	21104	2	2004	Given the importance of rapidly achieving target blood concentrations after transplantation, further prospective studies should consider the immediate post-graft period and assess the influence of this specific polymorphism. Beside non-genetic factors (e.g. steroids dosing, drugs interactions), CYP3A5 pharmacogenetic testing performed just before transplantation could contribute to a better individualization of immunosuppressive therapy.	Cohort 50/50 stable renal transplant recipients receiving cyclosporine (n = 50) or tacrolimus (n = 50) 	cyclosporine tacrolimus									
139267		kidney transplant	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Tsuchiya, N.  et al. 2004	15502717				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplantation. 2004 Oct;78(8):1182-7	Influence of CYP3A5 and MDR1 (ABCB1) polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients.		605325	21105	2	2004	 Kidney transplant recipients with the CYP3A5 *1 allele required a higher daily tacrolimus dose compared with those with the CYP3A5 *3/*3 genotype to maintain both the target trough level and AUC0-12, suggesting that this polymorphism is useful for determining the appropriate dose of tacrolimus.	Cohort 30 consecutive recipients of renal transplants 	tacrolimus									
139268		tacrolimus phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Tada, H.  et al. 2005	15919447				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplantation proceedings. 2005 May;37(4):1730-2	Impact of CYP3A5 and MDR1(ABCB1) C3435T polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients.		605325	21106	2	2005	 Renal transplant recipients who were CYP3A5*1 carriers required a higher dose of tacrolimus than CYP3A5*3/*3, indicating a significantly lower dose-adjusted AUC0-12 of tacrolimus. In contrast, MDR1 C3435T polymorphism was not an important factor in tacrolimus pharmacokinetics.											
139269		tacrolimus pharmacokinetics; sirolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Mourad, M.  et al. 2005	16249748				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplantation. 2005 Oct;80(7):977-84	Sirolimus and Tacrolimus Trough Concentrations and Dose Requirements after Kidney Transplantation in Relation to CYP3A5 and MDR1 Polymorphisms and Steroids.		605325	21107	2	2005	 Unlike tacrolimus, sirolimus adjusted trough concentrations and dose requirements seem not affected by CYP3A5 and MDR1 polymorphisms. Adjusted-prednisone dose has a significant impact on tacrolimus and sirolimus dose requirements.											
139270		graft-versus-host disease	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Zheng, H. X.  et al. 2005	15814280				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Transplant immunology. 2005 Mar;14(1):37-42	The impact of pharmacogenomic factors on acute persistent rejection in adult lung transplant patients.		605325	21108	2	2005	This is the first report of the association of a drug disposition genotype with drug-resistant acute rejection in organ transplant patients. The major predictor of acute persistent rejection in the first postoperative year for lung transplant patients was the MDR1 C3435T genotype. This association could be due to drug resistance, altered drug disposition or other immunologic effects associated with P-glycoprotein (P-gp) function. Future prospective treatment algorithms should be developed that will incorporate the knowledge of gene polymorphisms into treatment regimens to improve the outcome following lung transplantation.	Cohort 125 adult lung tansplant patients 										
139271		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q21.1	CYP3A5	99083752	99170757		Kivisto, K. T.  et al. 2005	15952872				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2		Finland	CDC GDPinfo	1577	Hs.150276			American journal of pharmacogenomics. 2005 ;5(3):191-5	CYP3A5 genotype is associated with diagnosis of hypertension in elderly patients: data from theDEBATE Study.		605325	21109	2	2005	 This work lends support to the theory that the polymorphic CYP3A5 enzyme may be involved in regulation of blood pressure. The possible role of CYP3A5 as a genetic contributor to hypertension susceptibility warrants further study.											
139272		prostate cancer; liver function	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Hiratsuka, M.  et al. 2002	12242601				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Japanese		CDC GDPinfo	1577	Hs.150276			European journal of clinical pharmacology. 2002 Sep;58(6):417-21	Allele and genotype frequencies of CYP2B6 and CYP3A5 in the Japanese population.		605325	21110	2	2002	 Our results contribute to a better understanding of the molecular basis of ethnic differences in drug response, which may help to improve individualization of drug therapy and offer a preliminary basis for more rational use of drugs that are substrates for CYP2B6 and CYP3A5 in the Japanese population.	Cohort 265 unrelated Japanese subjects 										
139273		breast cancer; tamoxifen, prophylactic effect of	CANCER	CAN	Breast Neoplasms|Neoplasm Recurrence, Local|Hot Flashes	7	7q21.1	CYP3A5	99083752	99170757			16361630				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of clinical oncology. 2005 Dec;23(36):9312-8	Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes		605325	21111	2	2005	 In tamoxifen-treated patients, women with the CYP2D6 *4/*4 genotype tend to have a higher risk of disease relapse and a lower incidence of hot flashes, which is consistent with our previous observation that CYP2D6 is responsible for the metabolic activation of tamoxifen to endoxifen.		tamoxifen									
139274		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	7	7q21.1	CYP3A5	99083752	99170757		de Leon, J.  et al. 2005	16160620				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		605325	21112	2	2005												
139275		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Dally, H.  et al. 2003	14515059				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2003 Oct;13(10):607-18	The CYP3A4*1B allele increases risk for small cell lung cancer: effect of gender and smoking dose.		605325	21113	2	2003	To confirm our observation that the CYP3A4*1B allele increases SCLC risk and modifies the smoking-related lung cancer risk in a gender-specific manner, further studies, including CYP3A haplotype analysis, will be necessary.	Control:432 Caucasian hospital-based controls;Case:801 Caucasian lung cancer patients										
139276		hypertension	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A5	99083752	99170757		Lee, S. J.  et al. 2005	15634941				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			The Journal of pharmacology and experimental therapeutics. 2005 Apr;313(1):302-9	Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype.		605325	21114	2	2005	We predict that individuals who are homozygous for defective alleles of both of these genes would metabolize CYP3A substrates poorly. The new genetic tests will be useful in future clinical studies to investigate genotype/phenotype associations.	Cohort 276 racially diverse individuals Cohort 72 racially diverse individuals 										
139277		lung cancer; breast cancer; liver cancer; oral cancer; prostate cancer; thyroid cancer; cervical cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Hu, Y. F.  et al. 2005	15698606				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese		CDC GDPinfo	1577	Hs.150276			Clinica chimica acta; international journal of clinical chemistry. 2005 Mar;353(2-Jan):187-92	CYP3A5*3 and CYP3A4*18 single nucleotide polymorphisms in a Chinese population.		605325	21115	2	2005	 We developed a simple assay for the detection of the CYP3A4*18 allele and showed that in a Chinese population, CYP3A4*18 and CYP3A5*3 allelic frequencies are similar to that reported previously in Chinese resident in Taiwan. The frequency of the CYP3A5*3 allele in Chinese population is similar to the Japanese but lower than Caucasians. Meanwhile, our findings suggest that an approximate 62% of the Chinese population carrying CYP3A5*3/*3 genotype may appear not to express CYP3A5 protein.	Cohort 302 Chinese subjects 										
139278		midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		He, P.  et al. 2005	15900284				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2005 May;77(5):373-87	Genotype-phenotype associations of cytochrome P450 3A4 and 3A5 polymorphism with midazolam clearance in vivo.		605325	21116	2	2005	In conclusion, these results indicate that the genetic variants identified so far in the CYP3A4 and CYP3A5 genes have only a limited impact on CYP3A-mediated drug metabolism in vivo.	Cohort 26 healthy subjects 										
139279		testicular cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Liu, C. H.  et al. 2005	16207150				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese		CDC GDPinfo	1577	Hs.150276			Pharmacogenomics. 2005 Oct;6(7):731-747	Screening CYP3A single nucleotide polymorphisms in a Han Chinese population with a genotyping chip.		605325	21117	2	2005												
139280	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Plummer, S. J.  et al. 2003	14504207				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2		Ohio	CDC GDPinfo	1577	Hs.150276			Cancer epidemiology, biomarkers & prevention. 2003 Sep;12(9):928-32	CYP3A4 and CYP3A5 genotypes, haplotypes, and risk of prostate cancer.		605325	21118	2	2003	These findings suggest that the CYP3A4 and CYP3A5 variants, or other alleles on the haplotypes they help distinguish, are associated with prostate cancer risk and aggressiveness.	Case prostate cancer cases;Control family-based controls										
139282		CYP3A activity	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Eap, C. B.  et al. 2004	15114431				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			European journal of clinical pharmacology. 2004 Jun;60(4):231-6	Pharmacokinetics of midazolam in CYP3A4- and CYP3A5-genotyped subjects.		605325	21120	2	2004	 Presently, CYP3A4 and CYP3A5 genotyping methods do not sufficiently reflect the inter-individual variability of CYP3A activity.	Cohort 21 heatly subjects 	Midazolam									
139283		prostate cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Garsa, A. A.  et al. 2005	15882469				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			BMC medical genetics [electronic resource]. 2005 May;6:19	CYP3A4 and CYP3A5 genotyping by Pyrosequencing.		605325	21121	2	2005	 Pyrosequencing is a versatile technique that could improve the efficiency of SNP analysis for pharmacogenomic research with the ultimate goal of pre-screening patients for individual therapy selection.	Cohort 95/95 healthy European (n=95) and healthy African (n=95) volunteers 										
139284	Y	muscle damage	NORMALVARIATION	NV	Muscular Diseases	7	7q21.1	CYP3A5	99083752	99170757		Wilke, R. A.  et al. 2005	15900215				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics and genomics. 2005 Jun;15(6):415-21	Relative impact of CYP3A genotype and concomitant medication on the severity of atorvastatin-induced muscle damage.		605325	21122	2	2005	The study demonstrates that patients who develop myalgia while taking atorvastatin are more likely to experience a greater degree of muscle damage if they express two copies of CYP3A5*3.	Case:68 myalgia patients and individuals with elevated serum creatine kinase (CK) levels;Control:69:controls	atorvastatin									
139286		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Demichele, A.  et al. 2005	16110016				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of clinical oncology. 2005 Aug;23(24):5552-9	Drug-metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohort.		605325	21124	2	2005	 Combined genotypes at CYP3A4, CYP3A5, GSTM1, and GSTT1 influence the probability of treatment failure after high-dose adjuvant chemotherapy for node-positive breast cancer.		anthracycline chemotherapy									
139287	N	leukemia, lymphoid; leukemia, myeloid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Myeloid|Neoplasms, Second Primary|Acute Disease	7	7q21.1	CYP3A5	99083752	99170757		Blanco, J. G.  et al. 2002	12439220				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2002 Nov;12(8):605-11	Genetic polymorphisms in CYP3A5, CYP3A4 and NQO1 in children who developed therapy-related myeloid malignancies		605325	21125	2	2002	Our data do not support an association between common, or polymorphisms and the risk of t-ML in children treated for ALL.	Control:224 children with ALL who did not develop myelodysplastic syndrome;Case:53 hildren with ALL who did develop the complication										
139288		repaglinide pharmacokinetics	OTHER	OTH		7	7q21.1	CYP3A5	99083752	99170757		Niemi, M.  et al. 2005	15961978				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2005 Jun;77(6):468-78	Polymorphic organic anion transporting polypeptide 1B1 is a major determinant of repaglinide pharmacokinetics.		605325	24281	2	2005	 Genetic polymorphism in SLCO1B1 is a major determinant of interindividual variability in the pharmacokinetics of repaglinide. The effect of SLCO1B1 polymorphism on the pharmacokinetics of repaglinide may be clinically important.											
139289		anticoagulant complications	METABOLIC	MET	Hemorrhage	7	7q21.1	CYP3A5	99083752	99170757		Wadelius, M.  et al. 2003	14676821				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			The pharmacogenomics journal. 2004 ;4(1):40-8	Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors.		605325	24282	2	2003	CYP3A5 did not affect warfarin dosing. An ABCB1 haplotype containing the exon 26 3435T variant was over-represented among low-dose patients. Thirty-six patients with serious bleeding complications had higher prothrombin time international normalised ratios than 189 warfarin-treated patients without serious bleeding, but there were no significant differences in CYP2C9, CYP3A5 or ABCB1 genotypes and allelic variants.	Cohort 201 stable warfarin-treated patients 	warfarin									
139290		endoxifen	PHARMACOGENOMIC	PHARM	Breast Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Jin, Y.  et al. 2005	15632378				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of the National Cancer Institute. 2005 Jan;97(1):30-9	CYP2D6 genotype, antidepressant use, and tamoxifen metabolism during adjuvant breast cancer treatment.		605325	24283	2	2005	 Interactions between CYP2D6 polymorphisms and coadministered antidepressants and other drugs that are CYP2D6 inhibitors may be associated with altered tamoxifen activity.	Cohort 80 patients with newly diagnosed breast cancer 	CYP2D6 inhibitors tamoxifen									
139291		kidney transplant complications	IMMUNE	IMM		7	7q21.1	CYP3A5	99083752	99170757		Hesselink, D. A.  et al. 2003	12966368				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2003 Sep;74(3):245-54	Genetic polymorphisms of the CYP3A4, CYP3A5, and MDR-1 genes and pharmacokinetics of the calcineurin inhibitors cyclosporine and tacrolimus.		605325	24284	2	2003	 As a group, patients with the CYP3A5*3/*3 genotype require less tacrolimus to reach target predose concentrations compared with CYP3A5*1 allele carriers, whereas CYP3A4*1B carriers require more tacrolimus to reach target trough concentrations compared with CYP3A4*1 homozygotes.	Cohort 110/64 kidney transplant recipients receiving cyclosporine (n = 110) or tacrolimus (n = 64) 	cyclosporine tacrolimus									
139292		kidney transplant; cyclospoine pharmacokinetics; heart transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Hesselink, D. A.  et al. 2004	15592326				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2004 Dec;76(6):545-56	Population pharmacokinetics of cyclosporine in kidney and heart transplant recipients and the influence of ethnicity and genetic polymorphisms in the MDR-1, CYP3A4, and CYP3A5 genes.		605325	24285	2	2004	 Patients carrying a CYP3A4*1B variant allele have a significantly higher oral cyclosporine clearance compared with patients homozygous for CYP3A4*1 . However, this genetic effect on cyclosporine disposition was small, and genotyping of transplant recipients for CYP3A4 is thus unlikely to assist in planning initial cyclosporine dosing.	Cohort 151 heart and kidney transplant recipients 										
139293		renal transplant	OTHER	OTH		7	7q21.1	CYP3A5	99083752	99170757		Anglicheau, D.  et al. 2005	15707415				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			American journal of transplantation. 2005 Mar;5(3):595-603	Consequences of genetic polymorphisms for sirolimus requirements after renal transplant in patients on primary sirolimus therapy.		605325	24286	2	2005	These findings suggest that the variations in SRL requirements are secondary to both genetic and non-genetic factors including pharmacokinetic interactions. In patients with SRL-based therapy, genotyping of the CYP3As genes may help to optimize the SRL management in transplant recipients.	Cohort 149 renal transplant recipients 	sirolimus									
139294		liver transplant; prostate cancer; premature ovarian failure; lupus nephritis	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Gervasini, G.  et al. 2005	16306861				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Therapeutic drug monitoring. 2005 Dec;27(6):819-21	Differences in CYP3A5*3 Genotype Distribution and Combinations With Other Polymorphisms Between Spaniards and Other Caucasian Populations.		605325	24287	2	2005												
139295		cholesterol, HDL; cholesterol, LDL; leukemia; 9-hydroxyrisperidone; risperidone	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Goh, B. C.  et al. 2002	12202670				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Journal of clinical oncology. 2002 Sep;20(17):3683-90	Explaining interindividual variability of docetaxel pharmacokinetics and pharmacodynamics in Asians through phenotyping and genotyping strategies.		605325	24288	2	2002	 Midazolam may be used as a probe drug for CYP3A activity to predict docetaxel clearances, hence reducing interindividual variability. Homozygotes for CYP3A5*3 and C3435T of MDR1 are common in our population, and their effects on pharmacokinetics of relevant substrates should be studied further.	Cohort 32 patients 	docetaxelMidazolam									
139296		hypercholesterolemia; drug hypersensitivity	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757			16321621				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical pharmacology and therapeutics. 2005 Nov;78(5):551-8	The role of common variants of ABCB1, CYP3A4, and CYP3A5 genes in lipid-lowering efficacy and safety of simvastatin treatment		605325	24289	2	2005	 Our data suggest an association of ABCB1 gene polymorphisms and the efficacy and safety of simvastatin.		simvastatin									
139297		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	7	7q21.1	CYP3A5	99083752	99170757		Kishi, S.  et al. 2003	12969965				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Blood. 2004 Jan;103(1):67-72	Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.		605325	24290	2	2003	The UGT1A1 6/6 genotype predicted lower catechol AUC. Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race.	Cohort children with acute lymphoblastic leukemia 	prednisone									
139299	Y	nephropathy	RENAL	REN	Balkan Nephropathy|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Atanasova, S. Y.  et al. 2005	15708542				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical biochemistry. 2005 Mar;38(3):223-8	Genetic polymorphisms of cytochrome P450 among patients with Balkan endemic nephropathy (BEN).		605325	24292	2	2005	 Our results demonstrate that the CYP3A5*1 allele, previously reported as a marker for CYP3A5 expression in human kidney, is associated with increased risk for BEN, while CYP3A4*1B and CYP2D6 genotypes do not significantly modify the risk for the disease.	Control:112 healthy Bulgarians from nonendemic areas;Case:96 nonrelated Bulgarian Balkan endemic nephropathy patients from endemic villages Vratza district, Bulgaria										
139300		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Zeigler-Johnson, C.  et al. 2004	15548719				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Cancer research. 2004 Nov;64(22):8461-7	CYP3A4, CYP3A5, and CYP3A43 genotypes and haplotypes in the etiology and severity of prostate cancer.		605325	24293	2	2004	The observation that CYP3A4 and CYP3A43 were associated with prostate cancer, are not in linkage equilibrium, and are both involved in testosterone metabolism, suggest that both CYP3A4*1B and CYP3A43*3 may influence the probability of having prostate cancer and disease severity.	Control:396:controls;Case:622 incident prostate cancer cases										
139301		premature ovarian failure; lupus nephritis	REPRODUCTION	REP	Lupus Nephritis|Kidney Failure, Chronic|Ovarian Failure, Premature	7	7q21.1	CYP3A5	99083752	99170757		Takada, K.  et al. 2004	15248218				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Arthritis and rheumatism. 2004 Jul;50(7):2202-10	Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis.		605325	25947	2	2004	 Determination of selected cytochrome P450 enzyme genotypes may be valuable for predicting the risk of premature ovarian failure in lupus nephritis patients treated with cyclophosphamide. The association of these genotypes with renal response needs further validation.	Cohort 62 patients with proliferative lupus nephritis treated with cyclophosphamide 	cyclophosphamide									
139302		cyclophosphamide phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Timm, R.  et al. 2005	16116487				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			The pharmacogenomics journal. 2005 ;5(6):365-73	Association of cyclophosphamide pharmacokinetics to polymorphic cytochrome P450 2C19.		605325	25948	2	2005												
139303		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Chowbay, B.  et al. 2005	15931768				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		605325	25949	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
139304		testicular cancer	CANCER	CAN	Neoplasms, Germ Cell and Embryonal|Testicular Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Starr, J. R.  et al. 2005	16172230				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Cancer epidemiology, biomarkers & prevention. 2005 Sep;14(9):2183-90	Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.		605325	25950	2	2005												
139305		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Central Nervous System Diseases	7	7q21.1	CYP3A5	99083752	99170757		Haas, D. W.  et al. 2004	15622315				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	African American		CDC GDPinfo	1577	Hs.150276			AIDS (London, England). 2004 Dec;18(18):2391-400	Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical TrialsGroup study.		605325	25951	2	2004	 A CYP2B6 allelic variant that is more common in African-Americans than in Europeans-Americans was associated with significantly greater efavirenz plasma exposure during HIV therapy. Inter-individual differences in metabolism may, in part, explain susceptibility to efavirenz central nervous system side effects.	Cohort 89/50/15 European-Americans (n=89), African-Americans (n=50) and Hispanics (n=15) HIV infected subjects in a 24 week cohort 										
139306		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Henningsson, A.  et al. 2005	16299241				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical cancer research. 2005 Nov;11(22):8097-104	Association of CYP2C8, CYP3A4, CYP3A5, and ABCB1 polymorphisms with the pharmacokinetics of paclitaxel.		605325	25952	2	2005	 This study indicates that the presently evaluated variant alleles in the CYP2C8, CYP3A4, CYP3A5, and ABCB1 genes do not explain the substantial interindividual variability in paclitaxel pharmacokinetics.											
139307		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Zhou, Q.  et al. 2005	15801936				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		605325	26838	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
139308		puberty onset	DEVELOPMENTAL	DEV	Breast Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Kadlubar, F. F.  et al. 2003	12692107				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian	New York	CDC GDPinfo	1577	Hs.150276			Cancer epidemiology, biomarkers & prevention. 2003 Apr;12(4):327-31	The CYP3A4*1B variant is related to the onset of puberty, a known risk factor for the development of breast cancer.		605325	26839	2	2003	CYP1B1, CYP3A4, and CYP3A5 rapid variants were more common in African-American than in Hispanic or Caucasian girls.	Cohort 137 healthy nine-year-old-girls from two pediatric clinics 										
139309		HIV	INFECTION	INF	HIV Infections	7	7q21.1	CYP3A5	99083752	99170757		Haas, D. W.  et al. 2005	16267764				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			The Journal of infectious diseases. 2005 Dec;192(11):1931-42	Pharmacogenetics of Long-Term Responses to Antiretroviral Regimens Containing Efavirenz and/or Nelfinavir: An Adult AIDS Clinical Trials GroupStudy.		605325	26840	2	2005	 Genetic variants predict plasma exposure to efavirenz and nelfinavir, and they may predict virologic failure and/or emergence of drug-resistant virus. These associations with treatment responses must be validated in other studies.		efavirenz nelfinavir									
139310		HIV infection	INFECTION	INF	HIV Infections	7	7q21.1	CYP3A5	99083752	99170757		Fellay, J.  et al. 2002	11809184				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Lancet. 2002 Jan;359(9300):30-6	Response to antiretroviral treatment in HIV-1-infected individuals with allelic variants of the multidrug resistance transporter 1: apharmacogenetics study.		605325	26841	2	2002	The polymorphism MDR1(ABCB1) 3435 C/T predicts immune recovery after initiation of antiretroviral treatment. This finding suggests that P-glycoprotein has an important role in admittance of antiretroviral drugs to restricted compartments in vivo.	Cohort 123 HIV-1-infected patients 	antiretroviral									
139311		cancer	CANCER	CAN		7	7q21.1	CYP3A5	99083752	99170757		Mathijssen, R. H.  et al. 2003	12960109				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		605325	27901	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
139312	Y	recurrent respiratory infections	OTHER	OTH	Respiratory Tract Infections|Genetic Predisposition to Disease|Recurrence	6	6p21.3	CYP21A1P				Jaatinen T et al. 1999	10439316				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene				KGB	1590				Human immunology. 1999 Aug;60(8):707-14	Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections.		201910	1714	1	1999												
139313		adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A1P	32081174	32084560		Wedell A et al. 1994	8175971				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene				KGB	1590				The Journal of clinical endocrinology and metabolism. 1994 May;78(5):1145-52	Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.		201910	1715	1	1994												
139314		cytogenetic studies	OTHER	OTH		6	6p21.3	CYP21A1P	32081174	32084560		Schlade-Bartusiak, K.  et al. 2004	15036125				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene				CDC GDPinfo	1590				Mutation research. 2004 Mar;558(2-Jan):121-30	Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes.		201910	13441	2	2004	Our study shows that the combined analysis of polymorphisms in metabolizing enzymes may lead to a better understanding of their contribution to an individual's susceptibility to DEB.	Cohort 63 healthy donors 										
139315		21-hydroxylase deficiency	METABOLIC	MET		6	6p21.3	CYP21A1P	32081174	32084560		Tao, H.  et al. 2005	15793784				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene		Chinese		CDC GDPinfo	1590				Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):195-7	[Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]		201910	16035	2	2005	 Among 82 patients of Chinese Han nationality androgen excess women, 4.9% were 21-OHD heterozygous. The response of serum 17-OHP is not useful for predicting CYP21 gene mutation carrier status. Genotyping is the most reliable method to detect carrier.	Control:14 healthy women;Case:82 androgen excess cases										
139316		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A1P	32081174	32084560		Votava, F.  et al. 2005	15941926				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene				CDC GDPinfo	1590				European journal of endocrinology. 2005 Jun;152(6):869-74	Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.		201910	16036	2	2005	 Newborn screening is efficient for diagnosing the SW form of CAH, but is inappropriate for identifying all patients with a moderate form of CAH. It appears that the false-negative rate is at least one-third in children with the moderate form of CAH.											
139317		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A1P	32081174	32084560		Torres, N.  et al. 2003	14502362				cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene				CDC GDPinfo	1590				Brazilian journal of medical and biological research. 2003 Oct;36(10):1311-8	Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.		201910	16045	2	2003	This new Brazilian cohort study suggests the presence of new mutations in Brazilian patients with different forms of CAH-21OH.	Case:50 Brazilian patients with the classical (salt										
139318	Y	Attention-deficit/hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287	P = 0.01	Roman T 2002	11857576	TaqI A2 allele		other	Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			American journal of medical genetics. 2002 Mar;114(2):154-8			223360	6985	1	2002												
139319	Y	migrane. typical	PSYCH	PSY	Migraine Disorders|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287	P =0.006	Lea RA 2000	11085595				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			Neurogenetics. 2000 Sep;3(1):35-40			223360	6986	1	2000												
139320	Y	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Wei J et al. 1998	9564683				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			Psychiatric genetics. 1998 ;8(1):19-24	TaqI polymorphic sites at the human dopamine beta-hydroxylase gene possibly associated with biochemical alterations of the catecholamine pathway in schizophrenia.		223360	6987	1	1998												
139321	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287	n	Williams HJ et al. 1999	10490716				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			American journal of medical genetics. 1999 Oct;88(5):557-9	No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH).		223360	6988	1	1999												
139322	Y	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Wei J et al. 1997	9084894				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			Biological psychiatry. 1997 Apr;41(7):762-7	Is the polymorphic microsatellite repeat of the dopamine beta-hydroxylase gene associated with biochemical variability of the catecholamine pathway in schizophrenia?		223360	6989	1	1997												
139323		schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Meszaros K et al. 1996	8925253				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			Psychiatric genetics. 1996 ;6(1):17-22	Schizophrenia and the dopamine-beta-hydroxylase gene: results of a linkage and association study.		223360	6990	1	1996	We conclude that  the DBH gene seems to have no strong contribution in the etiology of schizophrenia.											
139325	Y	interpersonal sensitivity; paranoid ideation; psychoticism	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Paranoid Disorders	9	9q34	DBH	135491305	135514287		Wood, J. G.  et al. 2002	11904130				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Biological psychiatry. 2002 Mar;51(5):365-9	A polymorphism in the dopamine beta-hydroxylase gene is associated with "paranoid ideation" in patients with major depression.		223360	10078	2	2002	 Depressed patients with the GG genotype of DbetaH have lower scores for interpersonal sensitivity and paranoid ideation. The GG genotype may be protective against the development of psychosis in the presence of a major depressive episode.	Cohort 164 patients with major depression 										
139326	Y	Parkinson's disease	NEUROLOGICAL	NEUR		9	9q34	DBH	135491305	135514287		Zhao, X.  et al. 2003	12778453				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Chinese		CDC GDPinfo	1621	Hs.591890			Zhonghua yi xue yi chuan xue za zhi. 2003 Jun;20(3):238-40	[Dopamine beta hydroxylase gene polymorphism and Parkinson's disease]		223360	10079	2	2003	 The polymorphism in DBH gene might play an important role in the susceptibility of Shanghai Chinese Han population to PD.	Case:144 Chinese Han Parkinsons' disease patients:Shanghai;Control:188 healthy control subjects matched for age, sex and:origin										
139328	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Bhaduri, N.  et al. 2005	15767706				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Indian		CDC GDPinfo	1621	Hs.591890			Indian pediatrics. 2005 Feb;42(2):123-9	Analysis of polymorphisms in the dopamine Beta hydroxylase gene: association with attentiondeficit hyperactivity disorder in Indian children.		223360	10081	2	2005	 This is the first molecular genetic study on ADHD in Indian subjects exploring transmission of polymorphisms in the DBH gene. Preliminary investigation shows a trend towards association between the transmission of DBH444a allele and ADHD. No association was noticed between transmission of intron 5 (Taq I) polymorphism and ADHD in the Indian subjects. Presence of strong LD may point towards co-segregation of these two polymorphisms more often than expected.	Cohort 41 Indian attention deficit hyperactivity disorder cases 										
139329		hypertension	CARDIOVASCULAR	CARD	Hypertension	9	9q34	DBH	135491305	135514287		Abe, M.  et al. 2005	16097364				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Japanese	Japan	CDC GDPinfo	1621	Hs.591890			Hypertension research. 2005 Mar;28(3):215-21	Association of dopamine beta-hydroxylase polymorphism with hypertension through interaction with fasting plasma glucose in Japanese.		223360	10082	2	2005			glucose									
139330	N	alcoholism; personality traits	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q34	DBH	135491305	135514287		Freire, M. T.  et al. 2005	16133787	DBH -1021 C/T			Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			J Neural Transm. 2005 Sep;112(9):1269-74	The DBH -1021 C/T polymorphism is not associated with alcoholism but possibly with patients' exposure to life events.		223360	10083	2	2005												
139332	Y	alcoholism; alcohol withdrawal	CHEMDEPENDENCY	CHEM	Alcohol-Induced Disorders, Nervous System|Alcohol Withdrawal Delirium|Alcoholism|Substance Withdrawal Syndrome|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287		Kohnke, M. D.  et al. 2005	16252068	DBH(*)444G/A			Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			J Neural Transm. 2005	DBH(*)444G/A polymorphism of the dopamine-beta-hydroxylase gene is associated with alcoholism but not with severe alcohol withdrawal symptoms.		223360	10085	2	2005												
139333		smoking behavior	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q34	DBH	135491305	135514287		Freire, M. T.  et al. 2005	16032443				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			European archives of psychiatry and clinical neuroscience. 2005	Polymorphisms in the DBH and DRD2 gene regions and smoking behavior.		223360	10137	2	2005												
139334		dopamine beta-hydroxylase activity	UNKNOWN	UNK	Depressive Disorder, Major	9	9q34	DBH	135491305	135514287		Cubells, J. F.  et al. 2002	11904129				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Biological psychiatry. 2002 Mar;51(5):358-64	Genotype-controlled analysis of plasma dopamine beta-hydroxylase activity in psychotic unipolar major depression.		223360	16301	2	2002	 Although the effects of the diagnosis of UDPF, and of DBH allele status, on plasma DbetaH activity were replicated, the lower plasma DbetaH in patients with UDPF was not accounted for by DBH genotype. Several explanations for this result are possible. First, other variants at DBH, or at other loci, could account for the findings. Second, nongenetic factors could account for the differences in plasma DbetaH. In this regard, we hypothesize that abnormal regulation of hypothalamic-pituitary-adrenal function in UDPF lowers expression of DbetaH protein, which could in turn alter the ratio of dopamine and norepinephrine in noradrenergic neurons, thereby promoting development of psychotic symptoms.	Cohort 78 patients with unipolar major depression with psychotic features (n=33) and nonpsychotic unipolar major depression (n=45) 										
139335		alcoholism; delirium tremens, alcohol-induced	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Substance Withdrawal Syndrome	9	9q34	DBH	135491305	135514287		Kohnke, M. D.  et al. 2002	12488060				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2		Germany	CDC GDPinfo	1621	Hs.591890			Biological psychiatry. 2002 Dec;52(12):1151-8	A genotype-controlled analysis of plasma dopamine beta-hydroxylase in healthy and alcoholic subjects:evidence for alcohol-related differences in noradrenergic function.		223360	16302	2	2002	 The data indicate that the alcoholism-related reduction in plasma DbetaH activity is independent of genotype at DBH-1021C-->T and replicate the finding that DBH-1021C-->T is strongly associated with plasma DbetaH activity in a native Western European population.	Control:102 healthy control subjects;Case:207 German alcoholic subjects										
139336		schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Yamamoto, K.  et al. 2003	12555232				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):33-8	Dopamine beta-hydroxylase (DBH) gene and schizophrenia phenotypic variability: a geneticassociation study.		223360	16303	2	2003	These results suggest that the DBH gene is not a causative factor in schizophrenia but that it may be a modulator of psychotic symptoms, severity of the disorder and therapeutic response to neuroleptic drugs.	Control:120 healthy volunteers;Case:42/64 schizophrenic patients that were excellent neuroleptic-responders (n=42) and non-responders:(n=64)	neuroleptic response									
139337	N	autonomic disease	UNKNOWN	UNK	Autonomic Nervous System Diseases|Multiple System Atrophy	9	9q34	DBH	135491305	135514287		Cho, S.  et al. 2003	12833405				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			American journal of medical genetics Part A. 2003 Jul;120(2):234-6	Variations in the dopamine beta-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure, or multiple system atrophy.		223360	16304	2	2003	In contrast to NE deficiency, allele frequency and genotype distribution of the genetic variants showed no differences between autonomic disease patients and controls. In addition, no DBH mutation was found that distinguished autonomic disease patients from controls, suggesting that genetic variants of the DBH gene are not associated with the autonomic diseases OI, PAF, and MSA.	Case:103 patients with autonomic disorders (38 with orthostatic intolerance (OI), 26 with pure autonomic failure (PAF), and 39 with multiple system atrophy (MSA));Control:88 normal controls										
139338	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Jonsson, E. G.  et al. 2003	12960750			promoter	Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Swedish		CDC GDPinfo	1621	Hs.591890			Psychiatric genetics. 2003 Sep;13(3):175-8	No association between a putative functional promoter variant in the dopamine beta-hydroxylase gene and schizophrenia.		223360	16305	2	2003	 The present results do not support a major involvement of the DBH gene in schizophrenia in the Swedish population investigated.	Case:155 schizophrenic patients:Sweden;Control:436 control subjects										
139339	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Inkster, B.  et al. 2004	15167700				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Psychiatric genetics. 2004 Jun;14(2):117-20	Linkage disequilibrium analysis of the dopamine beta-hydroxylase gene in persistent attention deficit hyperactivity disorder		223360	16306	2	2004	Taken together, these results do not provide support for a role of the DBH TaqI marker in our persistent ADHD samples.	Control controls carefully matched according to gender, age and ethnicity;Case:112 adult attention deficit hyperactivity disorder:cases										
139340	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287		Depondt, C.  et al. 2004	15505174	( -1021C->T )			Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2		Europe	CDC GDPinfo	1621	Hs.591890			Neurology. 2004 Oct;63(8):1497-9	The -1021C->T DBH gene variant is not associated with epilepsy or antiepileptic drug response		223360	16307	2	2004	The results suggest that the -1021C-->T variant does not contribute to epilepsy.	Control:1,087:controls;Case:675 patients with epilepsy										
139341	N	smoking behavior	CHEMDEPENDENCY	CHEM		9	9q34	DBH	135491305	135514287		Johnstone, E. C.  et al. 2004	15077009				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Pharmacogenetics. 2004 Feb;14(2):83-90	Genetic variation in dopaminergic pathways and short-term effectiveness of the nicotine patch		223360	16364	2	2004	There was no association between patch effectiveness and DRD2 exon 8. Short-term effectiveness of the nicotine patch may be related to dopamine beta-hydroxylase and dopamine D2 receptor genotype. Our results support the need for further investigation into personalized therapies for smoking cessation based on individual genotype.	Cohort 1,532 of the 1612 subjects still available from a 1991-1993 randomized control trial 										
139342	Y	hormone disturbance	METABOLIC	MET		9	9q34	DBH	135491305	135514287		Jonsson, E. G.  et al. 2004	15102340				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			BMC psychiatry [electronic resource]. 2004 Mar;4:4	Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.		223360	16405	2	2004	 The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.	Cohort 90 healthy volunteers 										
139343		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287			16389711				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Encephale. 2005 Jul-Aug;31(4 Pt 1):437-47	[Meta-analysis of candidate genes in attention-deficit hyperactivity disorder]		223360	16431	2	2005												
139344		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	9	9q34	DBH	135491305	135514287		Johnstone, E. C.  et al. 2002	12360111				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Pharmacogenetics. 2002 Oct;12(7):585-7	Polymorphisms in dopamine metabolic enzymes and tobacco consumption in smokers: seekingconfirmation of the association in a follow-up study		223360	21136	2	2002	In conclusion, we cannot confirm earlier finding that genetic variations in enzymes that metabolize dopamine are important in determining the tobacco consumption of smokers. There was a tendency for people with the DBH-1368A allele (which was related to higher tobacco consumption in the exploratory study) to smoke more, but this effect did not reach statistical significance in the larger sample.	Cohort 1,749 smokers from the OXCHECK study 	smoking (tobacco)									
139345		nicotine dependence; cotinine	CHEMDEPENDENCY	CHEM		9	9q34	DBH	135491305	135514287		Huang, S.  et al. 2005	16272956				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Pharmacogenetics and genomics. 2005 Dec;15(12):839-50	CYP2A6, MAOA, DBH, DRD4, and 5HT2A genotypes, smoking behaviour and cotinine levels in 1518 UK adolescents.		223360	21137	2	2005	 CYP2A6 haploinsufficiency increases likelihood of continuing smoking in teenagers. We hypothesize an explanatory 'occupancy' model to explain why haploinsufficiency results in faster progression to nicotine dependence, but lower subsequent consumption.											
139347		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287		Lerman, C.  et al. 2003	12627466				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		223360	26842	2	2003	Review article											
139348		maple syrup urine disease	OTHER	OTH	Maple Syrup Urine Disease	1	1p31	DBT	100425065	100487997		Chuang JL et al. 1997	9239422			splice variant	Dihydrolipoamide branched chain transacylase E2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001918.1			KGB	1629	Hs.270570			The Journal of clinical investigation. 1997 Aug;100(3):736-44	E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.		248610	6992	1	1997												
139350		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	8	8p23.1-p22	DEFB4	7789608	7791647		Vankeerberghen, A.  et al. 2005	15820309				Defensin, beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004942.2		Europe	CDC GDPinfo	1673	Hs.105924			Genomics. 2005 May;85(5):574-81	Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.		602215	25954	2	2005	Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found.	Case cystic fibrosis patients:Europe;Control healthy individuals										
139351	Y	muscular dystrophy	OTHER	OTH	Muscular Dystrophies	X	Xp21.2	DMD	31047265	33267647		Nigro V et al. 1994	7849724				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			KGB	1756	Hs.495912			Human molecular genetics. 1994 Oct;3(10):1907-8	Novel small mutations along the DMD/BMD gene associated with different phenotypes.		300377	6993	1	1994												
139352	Y	Duchenne muscular dystrophy	OTHER	OTH	Muscular Dystrophies|Mental Retardation|Chromosome Deletion	X	Xp21.2	DMD	31047265	33267647		Rapaport D et al. 1991	1877622				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			KGB	1756	Hs.495912			American journal of medical genetics. 1991 Jun;39(4):437-41	Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy.		300377	6994	1	1991												
139353	Y	X-linked dilated cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	X	Xp21.2	DMD	31047265	33267647		Franz WM et al. 2000	10832829				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			KGB	1756	Hs.495912			Lancet. 2000 May;355(9217):1781-5	Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy.		300377	6995	1	2000												
139355	Y	dilated cardiomyopathy	CARDIOVASCULAR	CARD	Muscular Dystrophy, Duchenne|Cardiomyopathy, Dilated	X	Xp21.2	DMD	31047265	33267647		Feng J et al. 2002	12359139				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			KGB	1756	Hs.495912			Molecular genetics and metabolism. 2002 Sep-Oct;77(2-Jan):119-26	Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.		300377	6997	1	2002												
139356		Becker muscular dystrophy; Duchenne muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophy, Duchenne	X	Xp21.2	DMD	31047265	33267647		Effat, L. K.  et al. 2000	11381192				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2		Egypt|United States|Asia|Russia	CDC GDPinfo	1756	Hs.495912			Disease markers. 2000 ;16(4-Mar):125-9	Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies.		300377	16340	2	2000	Comparing these findings with frequencies of other countries it was found that our figures fall within the reported range of 40%- distribution of deletions in our study and other different studies was variable and specific ethnic differences do not apparently account for specific deletions. In addition this study concluded that employment of the 18 exon analysis is a cost effective and a highly accurate (97% to launch a nationwide program.	Cohort 100 families collected from the Human Genetics Clinic, National Research Center, Cairo Egypt 										
139357		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophies	X	Xp21.2	DMD	31047265	33267647		Lai, P. S.  et al. 2002	12376747				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2		Asia	CDC GDPinfo	1756	Hs.495912			Journal of human genetics. 2002 ;47(10):552-5	Comparative study on deletions of the dystrophin gene in three Asian populations.		300377	16341	2	2002	Our results suggest that, although the presence and frequency of the two deletion hot spots may be similar in the three Asian populations analyzed, the distribution and frequency of deletions among the different exons can vary as a result of population-specific intronic sequences that predispose individuals to preferential deletion breakpoints.	Case samples obtained from 105 Singaporean, 86 Japanese, and 34 Vietnamese Duchenne muscular dystrophy:patients										
139358		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophy, Duchenne	X	Xp21.2	DMD	31047265	33267647		Mallikarjuna Rao, G. N.  et al. 2003	14514278				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2	Indian	India	CDC GDPinfo	1756	Hs.495912			Indian journal of medical sciences. 2003 Jan;57(1):6-Jan	Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients.		300377	16342	2	2003	The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.	Cohort 66 unrelated patients from Southern India Southern India 										
139359		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophy, Duchenne	X	Xp21.2	DMD	31047265	33267647		Lalic, T.  et al. 2001	15637982				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			CDC GDPinfo	1756	Hs.495912			Srpski arhiv za celokupno lekarstvo. 2001 May-Jun;129 Suppl 1:5-Mar	[Deletions in the dystrophin gene and its phenotype expression]		300377	16343	2	2001	The present data should be useful in establishing the prognosis in individual patients even in sporadic cases with no affected relatives.	Cohort 40 muscular dystrophy patients 										
139361		5-fluorouracil-associated toxicity	METABOLIC	MET	Neoplasms|Breast Neoplasms|Colonic Neoplasms|Rectal Neoplasms	1	1p22	DPYD	97315887	98159203		van Kuilenburg ABP et al. 2000	11156223				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			KGB	1806	Hs.335034			Clinical cancer research. 2000 Dec;6(12):4705-12	Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.		274270	6998	1	2000												
139362	N	dihydropyrimidine dehydrogenase level	PHARMACOGENOMIC	PHARM		1	1p22	DPYD	97315887	98159203		Hsiao HH 2004	15132136				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Taiwanese		KGB	1806	Hs.335034	5-FU pharmacogenetic syndrome		Cancer chemotherapy and pharmacology. 2004 May;53(5):445-51	Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population.		274270	6999	1	2004	 No significant correlations between these 11 mutations and DPD protein level were found indicating that examination of these mutations is insufficient to provide a high-value prediction of the 5-FU pharmacogenetic syndrome in Taiwanese. Genotype and phenotype analysis indicated the 1627A>G (DPYD*5) mutation to be a polymorphism.	Cohort 300 Taiwanese subjects Taiwan										
139363		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p22	DPYD	97315887	98159203		Zhu, A. X.  et al. 2004	15025795				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			Clinical colorectal cancer. 2004 Feb;3(4):225-34	Dihydropyrimidine dehydrogenase and thymidylate synthase polymorphisms and their association with 5-fluorouracil/leucovorin chemotherapy in colorectal cancer		274270	10123	2	2004	The present study offers useful themes for undertaking larger prospective pharmacogenetic studies in the future.	Cohort 22 patients with stage III/IV colorectal cancer treated by bolus intravenous (I.V.) injection with 500 mg/m2 doses of 5-FU and LV once every week 	5-flurouracil leucovorin									
139364		neural tube defects; Dihydropyrimidine dehydrogenase	DEVELOPMENTAL	DEV	Neoplasms	1	1p22	DPYD	97315887	98159203			16328315				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Turkish		CDC GDPinfo	1806	Hs.335034			European journal of clinical pharmacology. 2005 Dec;61(12):881-5	TYMS and DPYD polymorphisms in a Turkish population		274270	14587	2	2005	 The frequency of the TSER*3 allele among members of the Turkish population was similar to frequencies observed in other Caucasian populations but was lower than those found in Japanese and Chinese populations.											
139365		cancer	CANCER	CAN	Neoplasms	1	1p22	DPYD	97315887	98159203		Yamaguchi, K.  et al. 2001	11267945				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Japanese	Japan	CDC GDPinfo	1806	Hs.335034			Japanese journal of cancer research. 2001 Mar;92(3):337-42	Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil.		274270	16349	2	2001	Our results indicate that a very small percentage, about 0.2%, of the Japanese population seems to carry homozygous mutations in DPYD gene, mutations which possibly indicate genetically increased toxicity of 5FU-based chemotherapy.	Case Japanese cancer patients:Japan;Control healthy volunteers	5-flurouracil									
139366		5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Stomach Neoplasms|Stomatitis|Thrombocytopenia|Leukopenia|Diarrhea	1	1p22	DPYD	97315887	98159203		Raida, M.  et al. 2001	11555601			intron	SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			Clinical cancer research. 2001 Sep;7(9):2832-9	Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.		274270	16350	2	2001	We conclude that  carriers of the DPD exon 14-skipping mutation are at significantly increased risk to experience life-threatening myelosuppression upon 5-FU treatment, even when the allelic status is heterozygous. These data lead us to suggest routine testing for the exon 14-skipping mutation before 5-FU treatment.	Case:25 cancer patients reported by their physicians to have suffered from grades 3-4 toxicity upon 5-FU:chemotherapy;Control:851 Caucasian individuals	5-flurouracil									
139367		fluorouracil toxicity	PHARMACOGENOMIC	PHARM	Neoplasms	1	1p22	DPYD	97315887	98159203		Celik, I.  et al. 2002	12025228				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Turkish	Turkey	CDC GDPinfo	1806	Hs.335034			Cancer investigation. 2002 ;20(3):333-9	Dihydropyrimidine dehydrogenase enzyme deficiency:clinical and genetic assessment of prevalence in Turkish cancer patients.		274270	16351	2	2002	 In this report, for the first time we documented the frequency of dehydropyrimidine dehydrogenase gene mutation in Turkish cancer patients. The determination of enzyme activity in suspected individuals and analysis of other mutations on a population basis would be the next steps for our country.	Cohort 200 Turkish patients receiving fluorouracil based chemotherapy together with the assessment of the toxicity profile of these chemotherapy regimens 	5-flurouracil									
139368		5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Neutropenia	1	1p22	DPYD	97315887	98159203		Van Kuilenburg, A. B.  et al. 2002	12209976				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			International journal of cancer. Journal international du cancer. 2002 Sep;101(3):253-8	Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: highprevalence of the IVS14+1g>a mutation.		274270	16352	2	2002	Considering the common use of 5-FU in the treatment of cancer, the severe 5-FU-related toxicities in patients with low DPD activity and the apparently high prevalence of the IVS14+1G>A mutation, screening of patients at risk before administration of 5-FU is warranted.	Cohort patients suffering from grade IV neutropenia 	5-flurouracil									
139369	Y	5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM	Neoplasms	1	1p22	DPYD	97315887	98159203		Van Kuilenburg, A. B.  et al. 2002	12360106	IVS14 + 1G>A			SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			Pharmacogenetics. 2002 Oct;12(7):555-8	High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.		274270	16353	2	2002	Our study demonstrates that a DPD deficiency is the major determinant of 5FU-associated toxicity. The apparently high prevalence of the IVS14 + 1G>A mutation warrants genetic screening for this mutation in cancer patients before the administration of 5FU.	Cohort tumor patients suffering from severe grade 3-4 toxicity after the administration of 5FU 	5-flurouracil									
139370		5-fluorouracil toxicity	METABOLIC	MET		1	1p22	DPYD	97315887	98159203		Gross, E.  et al. 2002	12822071				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			Zentralbl Gynakol. 2002 Dec;124(12):574-9	[Mutations in the dihydropyrimidine dehydrogenase gene and their role in 5-fluororuracil intolerance]		274270	16354	2	2002	The DHPLC analysis turned out to be a reliable method for the investigation of large samples in an acceptable cost and time range. To further elucidate the molecular basis of the DPD deficiency syndrome we will continue to analyse a patient panel receiving 5-FU.	German cohort 										
139371	N	dihydropyrimidine dehydrogenase level	NORMALVARIATION	NV		1	1p22	DPYD	97315887	98159203		Hsiao, H. H.  et al. 2004	15132136				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Taiwanese		CDC GDPinfo	1806	Hs.335034			Cancer chemotherapy and pharmacology. 2004 May;53(5):445-51	Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population		274270	16355	2	2004	 No significant correlations between these 11 mutations and DPD protein level were found indicating that examination of these mutations is insufficient to provide a high-value prediction of the 5-FU pharmacogenetic syndrome in Taiwanese. Genotype and phenotype analysis indicated the 1627A>G (DPYD*5) mutation to be a polymorphism.	Cohort 300 Taiwanes subjects Taiwan 										
139372	Y	5-flurouracil toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	1	1p22	DPYD	97315887	98159203		Salgueiro, N.  et al. 2004	15017333				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Portuguese	Portugal	CDC GDPinfo	1806	Hs.335034			Genetics in medicine. 2004 Mar-Apr;6(2):102-7	Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients.		274270	16356	2	2004	 We conclude that mutations in exon 14 of DPYD gene are responsible for a significant proportion of life-threatening toxicity to 5-Fluorouracil, and should therefore be excluded before its administration to cancer patients.	Cohort 73 unselected colorectal cancer patients treated with 5-Fluorouracil 	5-flurouracil									
139373		Dihydropyrimidine dehydrogenase deficiency	OTHER	OTH		1	1p22	DPYD	97315887	98159203		Mattison, L. K.  et al. 2004	15102667				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDPinfo	1806	Hs.335034			Clinical cancer research. 2004 Apr;10(8):2652-8	Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test.		274270	16357	2	2004	 We demonstrated statistically significant differences in the 2-(13)C-uracil breath test indices (C(max), T(max), DOB(50), and PDR) among healthy and DPD-deficient individuals. These data suggest that a single time-point determination (50 min) could rapidly identify DPD-deficient individuals with a less costly and time-consuming method that is applicable for most hospitals or physicians' offices.	Cohort 58 individuals (50 "normal," 7 partially, and 1 profoundly DPD-deficient) 										
139374	N	dihydropyrimidine dehydrogenase level	PHARMACOGENOMIC	PHARM		1	1p22	DPYD	97315887	98159203		Hsiao, H. H.  et al. 2004	15132136				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Taiwanese		CDC GDPinfo	1806	Hs.335034			Cancer chemotherapy and pharmacology. 2004 May;53(5):445-51	Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population.		274270	16358	2	2004	 No significant correlations between these 11 mutations and DPD protein level were found indicating that examination of these mutations is insufficient to provide a high-value prediction of the 5-FU pharmacogenetic syndrome in Taiwanese. Genotype and phenotype analysis indicated the 1627A>G (DPYD*5) mutation to be a polymorphism.	Cohort 300 Taiwanese subjects Taiwan 										
139375		cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;	METABOLIC	MET		1	1p22	DPYD	97315887	98159203		Hamdy, S. I.  et al. 2002	12047484				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	African American		CDC GDPinfo	1806	Hs.335034			British journal of clinical pharmacology. 2002 Jun;53(6):596-603	Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.		274270	25955	2	2002	 Comparing our data with that obtained in several Caucasian, African-American and Asian populations, we found that Egyptians resemble Caucasians with regard to allelic frequencies of the tested variants of CYP2C9, CYP2C19, CYP2E1 and DPYD. Our results may help in better understanding the molecular basis underlying ethnic differences in drug response, and contribute to improved individualization of drug therapy in the Egyptian population.	Cohort 247 unrelated Egyptian subjects 										
139376		encephalomyopathy	NEUROLOGICAL	NEUR	Mitochondrial Encephalomyopathies|Intestinal Pseudo-Obstruction|Syndrome	22	22q13	ECGF1	49311047	49315321		Slama, A.  et al. 2005	15781193				Similar to MGC52679 protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001953.2			CDC GDPinfo	1890	Hs.592212			Molecular genetics and metabolism. 2005 Apr;84(4):326-31	Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.		131222	16456	2	2005	Enzymatic activity and thymidine level are thus rapid diagnosis tests to detect MNGIE affected patients prior to genetic testing for patients with gastrointestinal symptoms.	Cohort 31 unrelated patients with a complete MNGIE syndrome (8 patients), a severe intestinal pseudo-obstruction (10 patients), and multiple deletions and/or depletion of mitochondrial DNA (13 patients) 										
139377		hepatitis B	INFECTION	INF	Hepatitis B	4	4q28	ELF2	140198320	140317803		King, J. K.  et al. 2002	12447867				E74-like factor 2 (ets domain transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201999.1			CDC GDPinfo	1998	Hs.480763			Hepatology (Baltimore, Md). 2002 Dec;36(6):1416-24	Genetic polymorphisms in interferon pathway and response to interferon treatment in hepatitis B patients: A pilot study.			25967	2	2002	In conclusion, this pilot identified SNPs as potential markers that could predict hepatitis B patient response. These observations may help guide future large-scale studies in examining host SNPs for their clinical utility in predicting IFN response.	Cohort 82 Chinese Han patients with chronic hepatitis B 	interferon									
139378	Y	Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum	OTHER	OTH	Xeroderma Pigmentosum|Cockayne Syndrome	10	10q11.23	ERCC6	50336714	50417078		Colella S et al. 2000	10767341				excision repair cross-complementing rodent repair deficiency, complementation group 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000124			KGB	2074	Hs.133444			Human molecular genetics. 2000 May;9(8):1171-5	Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.		118820	2398	1	2000												
139379		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	10	10q11	ERCC6	50336714	50417590		Gu, J.  et al. 2005	15746040				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDPinfo	2074	HS.99924			Clinical cancer research. 2005 Feb;11(4):1408-15	Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.		133540	25976	2	2005	 These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.	Cohort 288 paitnets with superficial bladder cancer 	Bacillus Calmette-Guerin treatment									
139380	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	10	10q11	ERCC6	50336714	50417590		Millikan, R. C.  et al. 2005	16258177				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDPinfo	2074	HS.99924			Carcinogenesis. 2005	Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the GenesEnvironment and Melanoma study.		133540	25977	2	2005												
139381	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xq28	ERVK2	151073054	151383976	n	Pani MA et al. 2002	12039523				endogenous retroviral sequence K(C4), 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG427062	German		Y Wang	2087	Hs.490924			Human immunology. 2002 Jun;63(6):481-4	The variable endogenous retroviral insertion in the human complement C4 gene: atransmission study in type I diabetes mellitus			2399	1	2002	Thus, the HERV-K(C4) insertion is not associated with type I diabetes in Germans.											
139382	N	essential tremor	NEUROLOGICAL	NEUR	Migraine Disorders|Essential Tremor	13	3q13.3	DRD3	115330246	115380589		Pigullo, S.  et al. 2001	11341481				dopamine receptor D3		Italian	Italy	CDC GDPinfo	1814	Hs.121478			J Neural Transm. 2001 ;108(3):297-304	No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.		126451	16559	2	2001	Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET.	Case essential tremor patients:Italy;Control not specified in abstract										
139383		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor|Genetic Predisposition to Disease	2	2p25-p22	ETM2				Kim, J. H.  et al. 2005	16092108				essential tremor 2		Korean		CDC GDPinfo	2112				Movement disorders. 2005 Dec;20(12):1650-3	Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea.		602134	16561	2	2005												
139384		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor	2	2p25-p22	ETM2				Higgins, J. J.  et al. 2004	15355439				essential tremor 2			Singapore	CDC GDPinfo	2112				Clinical genetics. 2004 Oct;66(4):353-7	Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor.		602134	21306	2	2004	The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100-kb interval between the loci etm1231 and APOB.	Cohort 49 Singaporean controls older than age 65 Cohort 52 Singaporean individuals with a family history of essential tremor 										
139385	Y	asthma	IMMUNE	IMM	Asthma	1	1q21.1	FCGR1B	120728656	120737417		Tang, Y.  et al. 2001	11802953				Fc fragment of IgG, high affinity Ib, receptor for (CD64)			China	CDC GDPinfo	2210				Zhonghua jie he he hu xi za zhi. 2001 Mar;24(3):142-4	[Study on mutations of beta chain of high-affinity IgE receptor gene in people of Han nationality of southern China]		601502	16645	2	2001	 These results suggest that E237G mutation of Fc epsilon RI-beta gene presents in people of Han nationality of southern China, and is correlated with asthma. There are the lack or very low frequencies of V183L and I181L mutations in people of Han nationality of southern China.	Case:60 unrelated Han Chinese patients with asthma;Control:65 healthy Han Chinese controls										
139386	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656	0.02	Kyogoku C et al. 2002	12115230	I232T		coding sequence	Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan|Netherlands	Tsuchiya N	2213	Hs.352642			Arthritis and rheumatism. 2002 May;46(5):1242-54	Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus:contribution of FCGR2B to genetic susceptibility.		604590	7031	1	2002	 These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.	Case:193 Japanese patients with SLE;Control:303 healthy individuals										
139387	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2B	159817761	159836656	n	Kyogoku C et al. 2002	12486608	I232T		coding sequence	Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan	Tsuchiya N	2213	Hs.352642			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		604590	7032	1	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139388	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Magnusson V 2004	15077320				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1		Sweden	KGB	2213	Hs.352642			Arthritis and rheumatism. 2004 Apr;50(4):1348-50	Polymorphisms of the Fc gamma receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population.		604590	7033	1	2004												
139389		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Siriboonrit U 2003	12753656				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Thailand|Japan	Y Wang	2213	Hs.352642			Tissue antigens. 2003 May;61(5):374-83	Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais.		604590	7034	1	2003	These results provided evidence that FcgammaR polymorphisms may be an important predisposing factor also in Thais in a complex manner.	Case patients with systemic lupus erythematosus:Thailand;Control:controls										
139390		systemic lupus erythematosus	IMMUNE	IMM	Arthritis|Glomerulonephritis|Autoimmune Diseases|Lupus Erythematosus, Systemic	1	1q23	FCGR2B	159817761	159836656		Yajima K 2003	12672068				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			Y Wang	2213	Hs.352642			European journal of immunology. 2003 Apr;33(4):1020-9	FcgammaRIIB deficiency with Fas mutation is sufficient for the development of systemic autoimmune disease.		604590	7035	1	2003												
139391	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Magnusson V 2004	15077320				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1		Sweden	Y Wang	2213	Hs.352642			Arthritis and rheumatism. 2004 Apr;50(4):1348-50	Polymorphisms of the Fc gamma receptor type IIB gene are not associated with systemic lupus erythematosus in the Swedish population.		604590	7036	1	2004												
139393		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Siriboonrit, U.  et al. 2003	12753656				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Thai	Thailand|Japan	CDC GDPinfo	2213	Hs.352642			Tissue antigens. 2003 May;61(5):374-83	Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais.		604590	10612	2	2003	These results provided evidence that FcgammaR polymorphisms may be an important predisposing factor also in Thais in a complex manner.	Case patients with systemic lupus erythematosus:Thailand;Control:controls										
139394	Y	periodontitis	IMMUNE	IMM	Periodontitis	1	1q23	FCGR2B	159817761	159836656		Yasuda, K.  et al. 2003	14647193				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan	CDC GDPinfo	2213	Hs.352642			Genes and immunity. 2003 Dec;4(8):541-6	FcgammaRIIB gene polymorphisms in Japanese periodontitis patients.		604590	10613	2	2003	These results document the association of FcgammaRIIB gene polymorphisms with susceptibility to periodontitis in the Japanese.	Control race-matched healthy controls;Case Japanese patients with aggressive periodontitis and chronic periodontitis										
139395		thrombocytopenic purpura, idiopathic	HEMATOLOGICAL	HEM	Thrombocytopenia|Disease Progression|Recurrence	1	1q23	FCGR2B	159817761	159836656		Bruin, M.  et al. 2004	15566359				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			British journal of haematology. 2004 Dec;127(5):561-7	Platelet count, previous infection and FCGR2B genotype predict development of chronic disease in newly diagnosed idiopathic thrombocytopenia in childhood: results of a prospective study.		604590	16653	2	2004	Patient variables did not differ between these treatment groups. However, patients receiving IVIG had significantly lower risk for chronic disease.	Cohort 60 children with newly diagnosed idiopathic thrombocytopenia 										
139396	Y	lupus erythematosus	IMMUNE	IMM	Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Hitomi, Y.  et al. 2004	15459183				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			Human molecular genetics. 2004 Dec;13(23):2907-17	CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B.		604590	21412	2	2004	These results indicated that presence of CD72-*2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72.	Case:160/87 Japanese (n=160), Thai (n=87) systemic lupus erythematosus patients;Control:277/187:Japanese (n=277), Thai (n=187) controls										
139397	N	meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR2B	159817761	159836656		Smith, I.  et al. 2003	12729187				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1		Norway	CDC GDPinfo	2213	Hs.352642			Epidemiology and infection. 2003 Apr;130(2):193-9	FcgammaRIIa and FcgammaRIIIb polymorphisms were not associated with meningococcal disease in Western Norway.		604590	21413	2	2003	In contrast to previous findings, our study indicates that in Norwegian teenagers and adults, the FcgammaRIIa and FcgammaRIIIb allotypes are not decisive for the acquisition or for the severity of meningococcal disease.	Control:100 healthy adult controls;Case:50 meningococcal disease patients aged 14-60 years, with bacteriologically confirmed disease Western Norway										
139398	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2B	159817761	159836656		Su, K.  et al. 2004	15153543				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			Journal of immunology (Baltimore, Md :  1950). 2004 Jun;172(11):7186-91	A Promoter Haplotype of the Immunoreceptor Tyrosine-Based Inhibitory Motif-Bearing FcgammaRIIb Alters Receptor Expression and Associates with Autoimmunity. I. Regulatory FCGR2B Polymorphisms and Their Association with Systemic Lupus Erythematosus		604590	21414	2	2004	These results suggest that an expression variant of FCGR2B is a risk factor for human lupus and implicate FCGR2B in disease pathogenesis.	Control:controls;Case Caucasians with systemic lupus erythematosus										
139399	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Chu, Z. T.  et al. 2004	14651519				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Chinese		CDC GDPinfo	2213	Hs.352642			Tissue antigens. 2004 Jan;63(1):21-7	Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in theAsian populations.		604590	21415	2	2004	When the present results were combined with our previous data on the Japanese and the Thais using meta-analytic methods, highly significant and independent association was observed for FCGR2B and FCGR3A genotypes. These results strongly suggested that FCGR2B is a common susceptibility factor to SLE in the Asians.	Control:129 healthy controls;Case:167 Chinese patients with systemic lupus erythematosus										
139400		lupus erythematosus; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR2B	159817761	159836656		Torkildsen, O.  et al. 2005	15946259				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			Immunology. 2005 Jul;115(3):416-21	Ethnic variation of Fc gamma receptor polymorphism in Sami and Norwegian populations.		604590	21416	2	2005												
139401		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2B	159817761	159836656		Tsuchiya, N.  et al. 2005	16227149				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1		Thailand|China|Japan	CDC GDPinfo	2213	Hs.352642			Autoimmunity. 2005 Aug;38(5):347-52	Role of Fc gamma receptor IIb polymorphism in the genetic background of systemic lupus erythematosus:insights from Asia.		604590	21417	2	2005												
139402		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR2B	159817761	159836656		Kyogoku, C.  et al. 2002	12486608				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan	CDC GDPinfo	2213	Hs.352642			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		604590	21418	2	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139403		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656			16356189				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			Arthritis research & therapy. 2005 Nov;8(1):R5	Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a majorsusceptibility gene at this locus, with an additional contribution from FCGR3B		604590	21419	2	2005												
139404		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Tsuchiya, N.  et al. 2003	12858454				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan	CDC GDPinfo	2213	Hs.352642			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		604590	24414	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
139405		lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR2B	159817761	159836656		Van Der Pol, W. L.  et al. 2003	12830330				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDPinfo	2213	Hs.352642			Immunogenetics. 2003 Jul;55(4):240-6	Evidence for non-random distribution of Fcgamma receptor genotype combinations.		604590	24415	2	2003	This study provides important information for the interpretation of studies reporting associations of FcgammaR alleles with disease, and underscores the apparent differences in FcgammaR heterogeneity between ethnic groups.	Cohort 514/149 Dutch Caucasian (n=514) and Japanese blood donors (n=149) 										
139407	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005	0.02	Kyogoku C et al. 2002	12115230			coding sequence	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan|Netherlands	Tsuchiya N	2214	Hs.372679			Arthritis and rheumatism. 2002 May;46(5):1242-54			146740	7037	1	2002	 These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.	Case:193; Control:303										
139408	Y	malaria	INFECTION	INF	Malaria, Cerebral	1	1q23	FCGR3A	159778174	159787005		Omi K et al. 2002	12501257				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			KGB	2214	Hs.372679			Japanese journal of infectious diseases. 2002 Oct;55(5):167-9	Absence of association between the Fc gamma receptor IIIA-176F/V polymorphism and the severity of malaria in Thai.		146740	7038	1	2002	Thus, we concluded that the association of Fc gamma RIIA-131H/R and Fc gamma RIIIB-NA1/NA2 polymorphisms with cerebral malaria in Thailand is not due to the LD caused by Fc gamma RIIIA-176F/V.	Cohort 462 adult Thai patients with Plasmodium falciparum malaria										
139409	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005	0.017	Kyogoku C et al. 2002	12486608	F176V		coding sequence	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	Tsuchiya N	2214	Hs.372679			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		146740	7039	1	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139410		periodontitis.	IMMUNE	IMM	Periodontitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Loos BG 2003	12834496				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		United States|Europe	KGB	2214	Hs.372679			Journal of clinical periodontology. 2003 Jul;30(7):595-602	Fcgamma receptor polymorphisms in relation to periodontitis.		146740	7040	1	2003	 The current study of relative small sample size suggests that the FcgammaRIIa-H/H131 genotype may be a putative susceptibility and severity factor, and the FcgammaRIIIa-V158 allele a putative susceptibility factor for periodontitis in Northern European Caucasians. These results need further verification and the biological importance of these findings needs further investigation.	Control:61 controls (Northern European Caucasian background, mean ages 44 and 42 years):case:68 periodontitis patients (Northern European Caucasian background, mean ages 44 and 42 years)	smoking (tobacco)									
139411		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Yun HR 2001	11480843				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Korean		Y Wang	2214	Hs.372679			Lupus. 2001 ;10(7):466-72	FcgammaRIIa/IIIa polymorphism and its association with clinical manifestations in Korean lupus patients.		146740	7041	1	2001												
139412		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis	1	1q23	FCGR3A	159778174	159787005		Seligman VA 2001	11263776				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		Y Wang	2214	Hs.372679			Arthritis and rheumatism. 2001 Mar;44(3):618-25	The Fcgamma receptor IIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians but not non-Caucasians.		146740	7042	1	2001	 The FcgammaRIIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians, but not among non-Caucasians. These results suggest that ethnic variation is critical in defining the specific genetic factors underlying the pathogenesis of SLE, and they have important prognostic and therapeutic implications as well.	Case:235 patients with systemic lupus erythematosus (SLE) and proven nephritis:Cohort:352 SLE patients with no evidence of renal disease										
139413		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR3A	159778174	159787005		Koene HR 1998	9778222				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		Y Wang	2214	Hs.372679			Arthritis and rheumatism. 1998 Oct;41(10):1813-8	The Fc gammaRIIIA-158F allele is a risk factor for systemic lupus erythematosus.		146740	7043	1	1998	 In our group of SLE patients, only the distribution of the alleles of the Fc gammaRIIIA-158V/F polymorphism was significantly different from that in the control group. This might indicate that macrophage expression of the Fc gammaRIIIA-158F isoform is involved in the disturbed clearance of immune complexes in patients with SLE.											
139414	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Lee EB 2002	12036208				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Korean	Korea	Y Wang	2214	Hs.372679			Rheumatology international. 2002 Apr;21(6):222-6	Fcgamma receptor IIIA polymorphism in Korean patients with systemic lupus erythematosus.		146740	7044	1	2002	In conclusion, FcgammaRIIIA-176F/V polymorphism is not associated with SLE in Koreans.	Case:145 Korean systemic lupus erythematosus patients;Control:75 control subjects										
139416	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Karassa FB 2003	12631364				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			Y Wang	2214	Hs.372679			Kidney international. 2003 Apr;63(4):1475-82	The Fc gamma RIIIA-F158 allele is a risk factor for the development of lupus nephritis: a meta-analysis.		146740	7046	1	2003	 The Fc gamma RIIIA-V/F158 polymorphism has a significant impact on the development of lupus nephritis.	Case:1154/1261 patients with lupus nephritis (n=1154) and SLE patients without nephritis (n=1261) from 11 studies;Control:1455 disease-free controls										
139417	Y	purpura, idiopathic thrombocytopenic	UNKNOWN	UNK	Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR3A	159778174	159787005		Fujimoto, T. T.  et al. 2001	11722422				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			British journal of haematology. 2001 Oct;115(1):125-30	Involvement of Fc gamma receptor polymorphism in the therapeutic response of idiopathic thrombocytopenic purpura.		146740	10619	2	2001	Our results iYdicate that the polymorphism of FcgammaRIIIA, but Yot FcgammaRIIA, iYflueYces the respoYse to treatmeYt iY ITP.	Case:104 adult chronic idiopathic thrombocytopenic purpura:patients;Control:59 healthy controls	corticosteroids immunosuppressive agents									
139418	Y	non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Follicular	1	1q23	FCGR3A	159778174	159787005		Cartron, G.  et al. 2002	11806974				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Blood. 2002 Feb;99(3):754-8	Therapeutic activity of humanized anti-CD20 monoclonal antibody and polymorphism in IgG Fc receptor FcgammaRIIIa gene.		146740	10622	2	2002	This study showed an association between the FCGR3A genotype and clinical and molecular responses to rituximab. This finding will certainly give rise to new pharmacogenetic approaches to the management of patients with non-Hodgkin lymphomas.	Cohort 49 patients having received rituximab for a previously untreated follicular non-Hodgkin lymphoma 	rituximab									
139419	Y	periodontitis, early-onset	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Yoshihara, A.  et al. 2001	11808760				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	CDC GDPinfo	2214	Hs.372679			Journal of dental research. 2001 Dec;80(12):2051-4	Analysis of vitamin D and Fcgamma receptor polymorphisms in Japanese patients with generalized early-onset periodontitis.		146740	10623	2	2001	In conclusion, no correlation was found between the VDR genotype and G-EOP. However, the VDR and Fc-gammaRIIIb genotype combination may be associated with susceptibility to G-EOP.	Case:42 generalized early-onset periodontitis patients;Control:52 adult periodontitis;Control:55 healthy controls		VDR	B-b	Fc-gammaRIIIb	NA1-NA2			Y		early onset periodontitis
139420	Y	Still's disease	UNKNOWN	UNK	Still's Disease, Adult-Onset	1	1q23	FCGR3A	159778174	159787005		Oh, Y. B.  et al. 2002	11850593				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Korean	Korea	CDC GDPinfo	2214	Hs.372679			Journal of Korean medical science. 2002 Feb;17(1):75-80	Association Between FcgammaR IIa and IIIa polymorphism and clinical manifestations in Korean patients with adult-onset Still's disease.		146740	10625	2	2002	Fc[gamma]R IIa-R/R131 and IIIa-F/F176 genotypes, low-binding genotypes for IgG2a and G1, may have more protective effects in acute stage of the disease than the other genotypes.	Control:197 healthy cotnrols;Case:36 Still's disease patients:Korea										
139421	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Lee, E. B.  et al. 2002	12036208				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Korean	Korea	CDC GDPinfo	2214	Hs.372679			Rheumatology international. 2002 Apr;21(6):222-6	Fcgamma receptor IIIA polymorphism in Korean patients with systemic lupus erythematosus.		146740	10626	2	2002	In conclusion, FcgammaRIIIA-176F/V polymorphism is not associated with SLE in Koreans.	Case:145 Korean systemic lupus erythematosus patients;Control:75 control subjects										
139422	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Milicic, A.  et al. 2002	12379528	r IIIA-158F/V			Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Indian	India|Great Britain	CDC GDPinfo	2214	Hs.372679			Annals of the rheumatic diseases. 2002 Nov;61(11):1021-3	The F158V polymorphism in FcgammaRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations		146740	10630	2	2002	 The 158VV phenotype showed a weak protective effect against developing RA in the Indian group. However, this sample was small (resulting in a low power for statistical analysis) and no independent confirmation was found in the larger white United Kingdom group. Thus the FcgammaRIIIA locus is unlikely to be of major importance in causing RA.	Control:289/93 United Kingdom (n=298) and Indian (n=93) healthy:controls;Case:398/63 white patients from the United Kingdom (n=398) and Indian (n=63) patients with rheumatoid arthritis										
139423	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Martinez, A.  et al. 2003	12618859				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Spanish	Spain	CDC GDPinfo	2214	Hs.372679			Genes and immunity. 2003 Mar;4(2):117-21	Genetic polymorphisms in Spanish rheumatoid arthritis patients: an association and linkagestudy.		146740	10635	2	2003	Our data suggest that most of the loci studied play no major role in the susceptibility to RA, the IL-10 gene being the sole exception.	Case rheumatoid arthritis patients;Control:controls										
139424	Y	lupus erythematosus; nephritis, lupus	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Karassa, F. B.  et al. 2003	12631364	r IIIA-158F/V			Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Kidney international. 2003 Apr;63(4):1475-82	The Fc gamma RIIIA-F158 allele is a risk factor for the development of lupus nephritis: ameta-analysis.		146740	10637	2	2003	 The Fc gamma RIIIA-V/F158 polymorphism has a significant impact on the development of lupus nephritis.	Case:1154/1261 patients with lupus nephritis (n=1154) and SLE patients without nephritis (n=1261) from 11 studies;Control:1455 disease-free controls										
139425	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Guseva, I. A.  et al. 2003	12847896	r IIIA-158F/V		promoter	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		Kazakhstan	CDC GDPinfo	2214	Hs.372679			Ter Arkh. 2003 ;75(5):36-41	[Polymorphism of Fc gamma RIIIA-158F/V gene and promoter region of IL-10 gene in systemic lupus erythematosus in Kazakhs]		146740	10641	2	2003	 Polymorphism of genes Fc gamma RIIIA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes Fc gamma RIIIA and IL-10 on the risk to develop SLE.	Case:49 Kazakh nationality patients with systemic lupus:erythematosus;Control:81 healthy subjects										
139426	N	leukemia	CANCER	CAN	Leukemia, B-cell, Chronic	1	1q23	FCGR3A	159778174	159787005		Farag, S. S.  et al. 2003	14563637				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Blood. 2004 Feb;103(4):1472-4	Fc gamma RIIIa and Fc gamma RIIa polymorphisms do not predict response to rituximab in B-cell chronic lymphocytic leukemia.		146740	10643	2	2003	These data suggest that FcgammaRIIIa polymorphisms are not predictive of response in CLL, and that unlike the case with FL, mechanisms of tumor clearance other than antibody-dependent cellular cytotoxicity may be more important.	Cohort 30 chronic lymphocytic patients 	rituximab									
139427	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	1	1q23	FCGR3A	159778174	159787005		Louis, E.  et al. 2004	14987319				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Alimentary pharmacology & therapeutics. 2004 Mar;19(5):511-9	Association between polymorphism in IgG Fc receptor IIIa coding gene and biological response to infliximab in Crohn's disease		146740	10645	2	2004	 Crohn's disease patients with FCGR3A-158 V/V genotype have a better biological and, possibly, clinical response to infliximab.	Cohort 200 Crohn's disease patients who had received infliximab 	infliximab									
139428	Y	lymphoma	CANCER	CAN	Waldenstrom Macroglobulinemia|Disease Progression	1	1q23	FCGR3A	159778174	159787005		Treon, S. P.  et al. 2005	15659493				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of clinical oncology. 2005 Jan;23(3):474-81	Polymorphisms in FcgammaRIIIA (CD16) receptor expression are associated with clinical response to rituximab in Waldenstr????m's macroglobulinemia.		146740	10649	2	2005	 The results of these studies therefore support a predictive role for FcgammaRIIIA-158 polymorphisms and responses to rituximab in WM.	Cohort 58 patients with Waldenstrom's macroglobulinemia 										
139429		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Kastbom, A.  et al. 2005	15998631	r IIIA-158F/V			Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Rheumatology (Oxford, England). 2005 Oct;44(10):1294-8	The 158V polymorphism of Fc gamma receptor type IIIA in early rheumatoid arthritis: increasedsusceptibility and severity in male patients (the Swedish TIRA project).		146740	10653	2	2005	 In a male population, the FcgammaRIIIA-158VV genotype is associated with an increased risk of developing RA, and the 158V allele with more severe disease in early RA.											
139431		leukemia, lymphoid	CANCER	CAN		1	1q23	FCGR3A	159778174	159787005		Bottcher, S.  et al. 2005	16181633	r IIIA-158F/V			Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of immunological methods. 2005 Nov;306(2-Jan):128-36	Flow cytometric assay for determination of FcgammaRIIIA-158 V/F polymorphism.		146740	10657	2	2005												
139432	Y	periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile	1	1q23	FCGR3A	159778174	159787005		Kobayashi, T.  et al. 2000	11022771				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	CDC GDPinfo	2214	Hs.372679			Journal of periodontology. 2000 Sep;71(9):1425-32	The Fcgamma receptor genotype as a risk factor for generalized early-onset periodontitis in Japanese patients.		146740	16655	2	2000	 This study indicates that the FcgammaRIIIb-NA2 allele and possibly FcgammaRIIIa-158F could be associated with susceptibility to G-EOP in Japanese patients.	Control:104 race-matched healthy controls;Case:38/83 patients with G-EOP and 83 patients with AP:Japanese										
139433	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005		Morgan, A. W.  et al. 2000	11037893				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		India|Pakistan|Great Britain	CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2000 Oct;43(10):2328-34	Fcgamma receptor type IIIA is associated with rheumatoid arthritis in two distinct ethnic groups.		146740	16656	2	2000	 We have demonstrated that the FcgammaRIIIA-158V/F polymorphism is a susceptibility and/or severity marker for RA in 2 distinct ethnic groups. This finding may ultimately provide additional insights into the pathogenesis of RA and other autoantibody/immune complex-driven autoimmune diseases.	Control:124/113 UK Caucasiancontrols (n=124) and North Indian and Pakistani controls (n=113);Case:141/108 UK Caucasian rheumatoid arthritis patients (n=141) and North Indian and Pakistani rheumatoid arthritis:patients (n=108)										
139434		leukemia, lymphoid	CANCER	CAN		1	1q23	FCGR3A	159778174	159787005		Abid, S.  et al. 2001	11696221				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Tunisian		CDC GDPinfo	2214	Hs.372679			Tissue antigens. 2001 Aug;58(2):90-2	Gene frequencies of human neutrophil antigens in the Tunisian blood donors and Berbers.		146740	16657	2	2001	In the genotyping study conducted, it was determined that the HNA-1a and HNA-1b gene frequencies observed in Tunisian blood donors and Berbers are similar to those previously reported in other white populations.	Cohort 199 unrelated healthy Tunisian blood donors and Berbers 										
139435	Y	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Morgan, A. W.  et al. 2003	12649399				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Rheumatology (Oxford, England). 2003 Apr;42(4):528-33	FcgammaRIIIA-158V and rheumatoid arthritis: aconfirmation study.		146740	16660	2	2003	 We have developed a novel assay to genotype the FcgammaRIIIA-158F/V polymorphism and confirmed that homozygosity for the FcgammaRIIIA-158V allele is associated with UK Caucasian RA, particularly in those individuals with nodules, suggesting FcgammaRIIIA may play a role in determining disease severity or in the development of nodules per se.	Control:581:controls;Case:828 rheumatoid arthritis patients:UK										
139436		candidiasis	INFECTION	INF		1	1q23	FCGR3A	159778174	159787005		Wang, J.  et al. 2003	14526422				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Chinese		CDC GDPinfo	2214	Hs.372679			Journal of Huazhong University of Science and Technology Medical sciences. 2003 ;23(3):239-41	Distribution of variant genotypes of Fc gamma receptor IIIa in healthy Chinese population of Zhengzhou City.		146740	16662	2	2003	The distribution of Fc gamma R IIIa-158 in healthy Chinese population of Zhengzhou city was polymorphic and different from that of African Americans (AA) and Caucasian Americans (CA).	Cohort 137 healthy people Zhengzhou city, China 										
139437		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Cryoglobulinemia|Autoimmune Diseases	1	1q23	FCGR3A	159778174	159787005		Vassilopoulos, D.  et al. 2003	14740435				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Clinical and experimental rheumatology. 2003 Nov-Dec;21(6 Suppl 32):S101-11	Study of host and virological factors of patients with chronic HCV infection and associated laboratory or clinical autoimmune manifestations.		146740	16664	2	2003	 Chronically infected HCV patients with symptomatic mixed cryoglobulinemia display a number of unique characteristics that differentiate them from asymptomatic patients with chronic hepatitis C.	Cohort 40 HCV patients with liver disease only (n = 11), with laboratory (n = 20) or clinical (n = 9) autoimmune manifestations 										
139438		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Yamamoto, K.  et al. 2004	15152814				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		CDC GDPinfo	2214	Hs.372679			Journal of periodontology. 2004 Apr;75(4):517-22	Association of Fcgamma receptor IIa genotype with chronic periodontitis in Caucasians		146740	16665	2	2004	 Our results suggest that the FcgammaRIIa-H/H131 genotype may be associated with chronic periodontitis risk (and disease severity) in Caucasian smokers. Further studies with families and studies of mechanisms are necessary to help establish the extent to which this is a genetic determinant of periodontal diseases.	Control:209 subjects with mean CAL < or = 1.77 mm considered as having little or no periodontal disease (125 never-smokers and 84 smokers);Case:213 subjects with mean CAL > or = 2.94 mm diagnosed with chronic periodontitis (62 never-smokers and 151 smokers)	smoking (tobacco)									
139439		urinary tract infection	UNKNOWN	UNK	Urinary Tract Infections|Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Hughes, L. B.  et al. 2004	15526004				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Genes and immunity. 2004 Dec;5(8):641-7	Genetic risk factors for infection in patients with early rheumatoid arthritis.		146740	16668	2	2004	These findings have important implications for the role of genetics in susceptibility to bacterial and viral infections.	Cohort 457 subjects with early rheumatoid arthritis 										
139440		Kaposi's sarcoma	CANCER	CAN	Herpesviridae Infections|Sarcoma, Kaposi	1	1q23	FCGR3A	159778174	159787005		Brown, E. E.  et al. 2005	15767342				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		Italy	CDC GDPinfo	2214	Hs.372679			Cancer epidemiology, biomarkers & prevention. 2005 Mar;14(3):633-7	A common genetic variant in FCGR3A-V158F and risk of Kaposi sarcoma herpesvirus infection and classic Kaposi sarcoma.		146740	16670	2	2005	Our findings suggest that gender differences could possibly modify the effect of FCGR3A on risk of KSHV infection and CKS. Additional studies are required to confirm these relationships and determine their etiologic significance.	Case:133 classic Kaposi sarcoma patients:Sicily, Rome, & Naples, Italy;Control:172 Kaposi sarcoma herpesvirus KSHV latent nuclear antigen-seropositive controls										
139441	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR3A	159778174	159787005		Dijstelbloem, H. M.  et al. 2000	11145038				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2000 Dec;43(12):2793-800	Fcgamma receptor polymorphisms in systemic lupus erythematosus: association with disease and in vivoclearance of immune complexes.		146740	21420	2	2000	 In Caucasian populations, the R/H polymorphism of FcgammaRIIa is a minor determinant in susceptibility to SLE, whereas the V/F polymorphism of FcgammaRIIIa is associated with a set of disease manifestations. Notably, the R/H polymorphism of FcgammaRIIa affects the clearance of immune complexes in vivo, which may influence the course of a disease such as SLE.	Control:154:controls;Case:230 Caucasian patients with SLE										
139442		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Zuniga, R.  et al. 2001	11229467				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Hispanic		CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2001 Feb;44(2):361-7	Low-binding alleles of Fcgamma receptor types IIA and IIIA are inherited independently and are associated with systemic lupus erythematosus in Hispanic patients		146740	21421	2	2001	 We observed an increase in the frequency of low-binding FcgammaR alleles in an SLE population with a high prevalence of renal disease. The apparent selection for the FcgammaRIIa-R131;FcgammaRIIIa-F176 haplotype in Hispanic patients suggests that low-binding alleles of both FcgammaRIIa and FcgammaRIIIa confer risk for SLE and may act additively in the pathogenesis of disease, whereas the high-binding haplotype FcgammaRIIa-H131;FcgammaRIIIa-V176 is protective, particularly in the homozygous state.	Control:53 disease-free control subjects;Case:67 Hispanic systemic lupus erythematosus (SLE):patients										
139443		lupus nephritis	IMMUNE	IMM	Lupus Nephritis	1	1q23	FCGR3A	159778174	159787005		Seligman, V. A.  et al. 2001	11263776				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2001 Mar;44(3):618-25	The Fcgamma receptor IIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians but not non-Caucasians		146740	21422	2	2001	 The FcgammaRIIIA-158F allele is a major risk factor for the development of lupus nephritis among Caucasians, but not among non-Caucasians. These results suggest that ethnic variation is critical in defining the specific genetic factors underlying the pathogenesis of SLE, and they have important prognostic and therapeutic implications as well.	Case:235 patients with systemic lupus erythematosus (SLE) and proven nephritis:Cohort:352 SLE patients with no evidence of renal disease										
139444		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Fu, Y.  et al. 1999	11776881				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Zhonghua kou qiang yi xue za zhi. 1999 Nov;34(6):364-6	[Relevance of Fc gamma R polymorphism to the susceptibility of early-onset periodontitis]		146740	21423	2	1999	 These results suggest that the Fc gamma RIIIB NA1/NA1 may be a risk indicator for the susceptibility of the EOP.	Control:27 healthy controls;Case:33 subjects with early-onset periodontitis										
139445		thrombocytopenic purpura, idiopathic	HEMATOLOGICAL	HEM	Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR3A	159778174	159787005		Carcao, M. D.  et al. 2003	12492589				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			British journal of haematology. 2003 Jan;120(1):135-41	Fcgamma receptor IIa and IIIa polymorphisms in childhood immune thrombocytopenic purpura.		146740	21424	2	2003	These observations underscore the importance of Fcgamma receptor-mediated cell clearance in childhood ITP.	Control:130 healthy control subjects;Case:98 children diagnosed with childhood immune thrombocytopenic purpura										
139446		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Sullivan, K. E.  et al. 2003	12626795				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Rheumatology (Oxford, England). 2003 Mar;42(3):446-52	Analysis of polymorphisms affecting immune complex handling in systemic lupus erythematosus.		146740	21425	2	2003	 The results of the study suggest that genes may interact in ways that either synergize or modify the effect of a single genetic effect and imply that association studies must be interpreted within the genetic background of the populations.	Case:166 systemic lupus erythematosus patients;Control:212 control subjects										
139447	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Chronic	1	1q23	FCGR3A	159778174	159787005		Lin, T. S.  et al. 2004	15217834				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Blood. 2005 Jan;105(1):289-91	FCGR3A and FCGR2A polymorphisms may not correlate with response to alemtuzumab in chronic lymphocytic leukemia.		146740	21426	2	2004	These findings indicate that FCRgammaIIIA and FCRgammaIIA polymorphisms may not predict response to alemtuzumab in CLL. Future studies examining larger cohorts of alemtuzumab treated CLL patients will be required to definitively determine the predictive value of specific FcR polymorphisms to treatment response.	Cohort 36 relapsed chronic lymphocytic leukemia patients treated with thrice weekly alemtuzumab for 12 weeks 	alemtuzumab									
139448		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	1	1q23	FCGR3A	159778174	159787005		Tanaka, Y.  et al. 2005	16221721				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Nephrology, dialysis, transplantation. 2005 Nov;20(11):2439-45	FcgammaRIIa-131R allele and FcgammaRIIIa-176V/V genotype are risk factors for progression of IgA nephropathy.		146740	21427	2	2005	 The present study shows that polymorphisms of FcgammaRIIa and FcgammaRIIIa influence the severity of IgAN in Japanese patients but not the incidence, suggesting that IgG-IC may play important roles in the progression and prognosis of this disease via FcgammaRs.											
139449		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	1	1q23	FCGR3A	159778174	159787005		Gruel, Y.  et al. 2004	15191947				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Blood. 2004 Nov;104(9):2791-3	The homozygous FcgammaRIIIa-158V genotype is a risk factor for heparin-induced thrombocytopenia in patients with antibodies to heparin-platelet factor 4 complexes.		146740	21428	2	2004	Since anti-H/PF4 Abs are mainly IgG1 and IgG3, clearance of sensitized platelets may be increased in patients homozygous for the FcgammaRIIIa-158V allotype, thus contributing to the development of thrombocytopenia.	Case:102 patients with definite heparin-induced:thrombocytopenia;Control:86/84 patients treated by heparin (86 subjects without detectable Abs to H/PF4, Ab- group; 84 patients with Abs to H/PF4 without HIT, Ab+ group)										
139450		immunotherapy response	IMMUNE	IMM	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Lymphoma, Follicular	1	1q23	FCGR3A	159778174	159787005		Weng, W. K.  et al. 2004	15483014				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of clinical oncology. 2004 Dec;22(23):4717-24	Clinical Outcome of Lymphoma Patients After Idiotype Vaccination Is Correlated With Humoral Immune Response and Immunoglobulin G Fc Receptor Genotype		146740	21429	2	2004	 This study is the first to identify the predictive value of FcgammaR polymorphism on clinical outcome in patients who received active immunotherapy with tumor antigen vaccines. Our results imply that the antibodies induced against a tumor antigen are beneficial and that FcgammaR-bearing cells mediate an antitumor effect by killing antibody-coated tumor cells.	Cohort 136 patients with follicular lymphoma who had received Id vaccination 	idiotype vaccination									
139451		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Matsumoto, I.  et al. 2005	16277670				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Arthritis research & therapy. 2005 ;7(6):R1183-8	A functional variant of Fcgamma receptor IIIA is associated with rheumatoid arthritis in individuals who are positive for anti-glucose-6-phosphate isomerase antibodies.		146740	21430	2	2005												
139452	Y	periodontitis	IMMUNE	IMM	Periodontal Diseases	1	1q23	FCGR3A	159778174	159787005		Meisel, P.  et al. 2001	11528518				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Genes and immunity. 2001 Aug;2(5):258-62	Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases.		146740	21431	2	2001	The results are evidence that the FcgammaRIIIa genotype coding for the high affinity receptor imposes an additional risk of bone loss as does the FcgammaRIIIb genotype coding for the low affinity receptor.	Cohort 154 Caucasian subjects 										
139453	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Taylor, V. I.  et al. 2002	11835346				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			American journal of hematology. 2002 Feb;69(2):109-14	Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell disease.		146740	21432	2	2002	We conclude that  polymorphisms of the low-affinity Fcgamma receptors are not associated with stroke in SS disease.	Case:51 Jamaican adult SS disease stroke cases;Control:51 SS disease-matched controls										
139454		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005		Brun, J. G.  et al. 2002	12064825				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			The Journal of rheumatology. 2002 Jun;29(6):1135-40	Immunoglobulin G fc-receptor (FcgammaR) IIA, IIIA, and IIIB polymorphisms related to disease severity in rheumatoid arthritis.		146740	21433	2	2002	 FcgammaRIIA is implicated as a possible disease modifying gene in RA. Individuals homozygous for the FcgammaRIIA R allele have less efficient binding of IgG2 subclasses than individuals homozygous for the H allele. Less effective processing of circulating immune complexes in RA patients homozygous for the FcgammaRIIA R allele may therefore contribute to a more unfavorable course.	Case:114 patients with rheumatoid arthritis;Case:96:controls										
139455	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Gonzalez-Escribano, M. F.  et al. 2002	12121275				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Spanish	Spain	CDC GDPinfo	2214	Hs.372679			European journal of immunogenetics. 2002 Aug;29(4):301-6	FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB polymorphisms in Spanish patients with systemic lupus erythematosus.		146740	21434	2	2002	With respect to the FcgammaRIIA-131 and FcgammaRIIIA-176 polymorphisms, no differences were found between patients and controls. Patient stratification according to their lupus-related nephritis status gave similar genotypic distribution patterns in both disease categories in all the cases.	Control:194 ethnically matched controls;Case:276 Spanish patients (34 male and 242 female) with systemic lupus erythematosus										
139456	Y	systemic lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Manger, K.  et al. 2002	12176802				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	German	Germany	CDC GDPinfo	2214	Hs.372679			Annals of the rheumatic diseases. 2002 Sep;61(9):786-92	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms		146740	21435	2	2002	 The results of this explorative study support the view that the FcgammaRIIa/IIIa and IIIb polymorphisms constitute factors influencing clinical manifestations and the disease course of SLE but do not represent genetic risk factors for the occurrence of SLE. Higher frequencies of clinical symptoms, haematological and immunological abnormalities as well as an earlier onset of clinical symptoms, haematological and immunological markers of active disease were found in patients with the IIA-R/R131 genotype and the double negative and triple negative genotypes.	Case:140 German patients with systemic lupus erythematosus:Germany;Control:187 German controls										
139457		poliomyelitis	OTHER	OTH	Poliomyelitis|Postpoliomyelitis Syndrome|Acute Disease|Disease Progression|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Rekand, T.  et al. 2002	12447772				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			The Journal of infectious diseases. 2002 Dec;186(12):1840-3	Fcgamma receptor IIIA polymorphism as a risk factor for acute poliomyelitis.		146740	21436	2	2002	In comparison with healthy control subjects without a history of poliomyelitis, significantly fewer patients had the FcgammaRIIIA genotype V/V (P<.01). However, this genotype was not an independent risk factor for PPS. The FcgammaRIIA and IIIB genotypes and allele frequencies did not differ between the patients and control subjects. The FcgammaRIIIA V/V genotype may lower the risk for contracting acute poliomyelitis through better clearance of poliovirus.	Control healthy control subjects without a history of:poliomyelitis;Case:110 Norwegian patients with well-defined histories of acute poliomyelitis										
139458		malaria	INFECTION	INF	Malaria, Cerebral	1	1q23	FCGR3A	159778174	159787005		Omi, K.  et al. 2002	12501257				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Thai		CDC GDPinfo	2214	Hs.372679			Japanese journal of infectious diseases. 2002 Oct;55(5):167-9	Absence of association between the Fc gamma receptor IIIA-176F/V polymorphism and the severity of malaria in Thai.		146740	21437	2	2002	Thus, we concluded that the association of Fc gamma RIIA-131H/R and Fc gamma RIIIB-NA1/NA2 polymorphisms with cerebral malaria in Thailand is not due to the LD caused by Fc gamma RIIIA-176F/V.	Cohort 462 adult Thai patients with Plasmodium falciparum malaria 										
139459		multiple sclerosis; lupus erythematosus; Wegener's granulomatosis; Guillain-Barre syndrome; thrombocytopenic purpura, idiopathic	IMMUNE	IMM	Wegener Granulomatosis|Guillain-Barre Syndrome|Autoimmune Diseases|Lupus Erythematosus, Systemic|Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR3A	159778174	159787005		Binstadt, B. A.  et al. 2003	12704346				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			The Journal of allergy and clinical immunology. 2003 Apr;111(4):697-703	IgG Fc receptor polymorphisms in human disease:implications for intravenous immunoglobulin therapy.		146740	21438	2	2003	Review article											
139460		lupus erythematosus; periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Kobayashi, T.  et al. 2003	12710759				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of periodontology. 2003 Mar;74(3):378-84	Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms.		146740	21439	2	2003	 These results show the FcgammaRIIa-R131 allele to be associated with periodontitis risk in SLE patients.	Case:42/18 SLE patients with periodontitis (n=42) and SLE patients without periodontitis (n=18);Control:42/42 healthy subjects with periodontitis (n=42), and healthy subjects without periodontitis (n=42 )										
139461		periodontitis	IMMUNE	IMM	Periodontitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Loos, B.  et al. 2003	12834496				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian	United States|Europe	CDC GDPinfo	2214	Hs.372679			Journal of clinical periodontology. 2003 Jul;30(7):595-602	Fcgamma receptor polymorphisms in relation to periodontitis.		146740	21440	2	2003	 The current study of relative small sample size suggests that the FcgammaRIIa-H/H131 genotype may be a putative susceptibility and severity factor, and the FcgammaRIIIa-V158 allele a putative susceptibility factor for periodontitis in Northern European Caucasians. These results need further verification and the biological importance of these findings needs further investigation.	Control:61 controls (Northern European Caucasian background, mean ages 44 and 42 years):case:68 periodontitis patients (Northern European Caucasian background, mean ages 44 and 42 years)	smoking (tobacco)									
139462	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	1	1q23	FCGR3A	159778174	159787005		Breij, E. C.  et al. 2003	12864991				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of neuroimmunology. 2003 Jul;140(2-Jan):210-5	No association of Fc gamma RIIa, Fc gamma RIIIa and Fc gamma RIIIb polymorphisms with MS		146740	21441	2	2003	We conclude that  Fcgamma receptor polymorphisms influence neither susceptibility nor clinical disease course of MS.	Case:432 multiple sclerosis patients;Control:515 healthy controls										
139463	N	lupus erythematosus	IMMUNE	IMM	Infection|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Chen, J. Y.  et al. 2004	15194589				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		Taiwan	CDC GDPinfo	2214	Hs.372679			Annals of the rheumatic diseases. 2004 Jul;63(7):877-80	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms of systemic lupus erythematosus in Taiwan.		146740	21442	2	2004	 Fcgamma receptor IIa, IIIa, and IIIb polymorphisms may be responsible for the development of distinct manifestations of lupus patients in Taiwan, but there is no significantly skewed distribution in the susceptibility to lupus as a whole.	Case:302 patients with systemic lupus erythematosus:Taiwan;Control:311 healthy blood donors										
139464	Y	Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		van Sorge, N. M.  et al. 2005	15833371				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of neuroimmunology. 2005 May;162(2-Jan):157-64	Severity of Guillain-Barr???? syndrome is associated with Fc gamma Receptor III polymorphisms.		146740	21443	2	2005	Results suggest that FcgammaRIII genotypes may represent mild disease-modifying factors in GBS.	Case:345 Guillain-Barre syndrome patients from Dutch and British cohorts;Control:714 healthy controls										
139465	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Inflammation	1	1q23	FCGR3A	159778174	159787005		Gavasso, S.  et al. 2005	15910853				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Atherosclerosis. 2005 Jun;180(2):277-82	Fcgamma receptor IIIA polymorphism as a risk-factor for coronary artery disease.		146740	21444	2	2005	 Our data provide evidence for an association between FcgammaRIIIA allelic variants and coronary atherosclerosis. Genetic variation in this IgG-receptor may influence the clearance of antibodies by monocyte-derived macrophages involved in the pathogenesis of CAD.	Cohort 882 patients undergoing diagnostic coronary angiogrpahy 										
139466		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	1	1q23	FCGR3A	159778174	159787005		Taniuchi, S.  et al. 2005	16133986				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of clinical immunology. 2005 Jul;25(4):309-13	Polymorphism of Fcgamma RIIa may affect the efficacy of gamma-globulin therapy in Kawasaki disease.		146740	21445	2	2005												
139467	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket|Chronic Disease|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR3A	159778174	159787005		Kobayashi, T.  et al. 2001	11699473				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	CDC GDPinfo	2214	Hs.372679			Journal of periodontology. 2001 Oct;72(10):1324-31	The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients		146740	21446	2	2001	 Our results document the Fc gamma RIIIa-158V allele and possibly Fc gamma RIIIb-NA2 to be associated with severity of CP in Japanese patients.	Case:39 Japanese non-smoking patients with moderate chronic:periodontitis;Case:50 Japanese non-smoking patients with severe chronic:periodontitis;Control:64 ace-matched, non-smoking healthy controls										
139468		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Fu, Y.  et al. 2002	12027254				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	African American		CDC GDPinfo	2214	Hs.372679			Journal of periodontology. 2002 May;73(5):517-23	Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans.		146740	21447	2	2002	 These data suggest that the Fc gammaRIIIb NA2 allele and/or NA2/NA2 genotype may represent risk markers for susceptibility to LAgP in African-Americans.	Case:48 localized aggressive periodontitis African-American:subjects;Control:67 periodontally-healthy African-American subjects										
139469		myasthenia gravis	IMMUNE	IMM	Thymoma|Myasthenia Gravis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		van der Pol, W. L.  et al. 2003	14597109				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Dutch	Netherlands	CDC GDPinfo	2214	Hs.372679			Journal of neuroimmunology. 2003 Nov;144(2-Jan):143-7	Association of the Fc gamma receptor IIA-R/R131 genotype with myasthenia gravis in Dutch patients.		146740	21448	2	2003	These data suggest that the FcgammaRIIa-R/R131 genotype is a marker for susceptibility to MG.	Case:107 myasthenia gravis patients;Control:239 healthy controls										
139470		agranulocytosis, drug induced	HEMATOLOGICAL	HEM	Agranulocytosis	1	1q23	FCGR3A	159778174	159787005		Mosyagin, I.  et al. 2005	16160618				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of clinical psychopharmacology. 2005 Oct;25(5):435-40	Drug-induced agranulocytosis: impact of differentfcgamma receptor polymorphisms?		146740	21449	2	2005												
139471		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	1	1q23	FCGR3A	159778174	159787005		Rocha, V.  et al. 2002	12393699				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		146740	21450	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
139472		meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR3A	159778174	159787005		van Der Pol, W. L.  et al. 2001	11740730				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			The Journal of infectious diseases. 2001 Dec;184(12):1548-55	Relevance of Fcgamma receptor and interleukin-10 polymorphisms for meningococcal disease.		146740	21451	2	2001	These data provide further evidence for the association of polymorphic genes on chromosome 1 and meningococcal disease.	Control:183 first-degree relatives of meningococcal disease:patients;Control:239 healthy controls subjects;Case:50 patients with meningococcal disease										
139473		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Criswell, L. A.  et al. 2004	15457442				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		146740	21452	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
139474		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Jonsen, A.  et al. 2004	15535834				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		146740	21453	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
139475		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Su, K.  et al. 2004	15153543				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Journal of immunology (Baltimore, Md :  1950). 2004 Jun;172(11):7186-91	A Promoter Haplotype of the Immunoreceptor Tyrosine-Based Inhibitory Motif-Bearing FcgammaRIIb Alters Receptor Expression and Associates with Autoimmunity. I. Regulatory FCGR2B Polymorphisms and Their Association with Systemic Lupus Erythematosus		146740	24416	2	2004	These results suggest that an expression variant of FCGR2B is a risk factor for human lupus and implicate FCGR2B in disease pathogenesis.	Control:controls;Case Caucasians with systemic lupus erythematosus										
139476	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Chu, Z. T.  et al. 2004	14651519				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Chinese		CDC GDPinfo	2214	Hs.372679			Tissue antigens. 2004 Jan;63(1):21-7	Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in theAsian populations.		146740	24417	2	2004	When the present results were combined with our previous data on the Japanese and the Thais using meta-analytic methods, highly significant and independent association was observed for FCGR2B and FCGR3A genotypes. These results strongly suggested that FCGR2B is a common susceptibility factor to SLE in the Asians.	Control:129 healthy controls;Case:167 Chinese patients with systemic lupus erythematosus										
139477		lupus erythematosus; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR3A	159778174	159787005		Torkildsen, O.  et al. 2005	15946259				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Immunology. 2005 Jul;115(3):416-21	Ethnic variation of Fc gamma receptor polymorphism in Sami and Norwegian populations.		146740	24418	2	2005												
139478		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Tsuchiya, N.  et al. 2005	16227149				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6		Thailand|China|Japan	CDC GDPinfo	2214	Hs.372679			Autoimmunity. 2005 Aug;38(5):347-52	Role of Fc gamma receptor IIb polymorphism in the genetic background of systemic lupus erythematosus:insights from Asia.		146740	24419	2	2005												
139479		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005		Kyogoku, C.  et al. 2002	12486608				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	CDC GDPinfo	2214	Hs.372679			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		146740	24420	2	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139481		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Choi, E. H.  et al. 2005	16110781				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		146740	26001	2	2005												
139482		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Tsuchiya, N.  et al. 2003	12858454				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Japanese	Japan	CDC GDPinfo	2214	Hs.372679			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		146740	26002	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
139483		lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR3A	159778174	159787005		Van Der Pol, W. L.  et al. 2003	12830330				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Immunogenetics. 2003 Jul;55(4):240-6	Evidence for non-random distribution of Fcgamma receptor genotype combinations.		146740	26003	2	2003	This study provides important information for the interpretation of studies reporting associations of FcgammaR alleles with disease, and underscores the apparent differences in FcgammaR heterogeneity between ethnic groups.	Cohort 514/149 Dutch Caucasian (n=514) and Japanese blood donors (n=149) 										
139485		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	1	1q23	FCGR3A	159778174	159787005		Kornman, K. S.  et al. 2001	11887471				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		146740	26865	2	2001	Review Article											
139486	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3B	159859676	159867525	n	Kyogoku C et al. 2002	12486608	NA1/NA2		coding sequence	Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	Tsuchiya N	2215	Hs.372679			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		610665	2651	1	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139487	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525	n	Kyogoku C et al. 2002	12115230	NA1/NA2		coding sequence	Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan|Netherlands	Tsuchiya N	2215	Hs.372679			Arthritis and rheumatism. 2002 May;46(5):1242-54	Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus: contribution of FCGR2B to genetic susceptibility.		610665	2652	1	2002	 These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.	Case:193; Control:303										
139488		Lupus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	1	1q23	FCGR3B	159859676	159867525		Hatta Y et al. 1999	11197306				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	KGB	2215	Hs.372679			Genes and immunity. 1999 Sep;1(1):53-60	Association of Fc gamma receptor IIIB but not of Fc gamma receptor IIA and IIIA polymorphisms with systemic lupus erythematosus in Japanese.		610665	2653	1	1999												
139490		periodontal disease	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Yan, L.  et al. 2005	15783303				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Chinese		CDC GDPinfo	2215	HS.372679			Immunohematology. 2005 ;21(1):25-8	FCGR3B polymorphism in three ethnic Chinese populations.		610665	10665	2	2005	This study found that the gene frequencies in Han and She ethnic groups were similar to those previously reported in the Asian population, but the FCGR3B allele frequencies in the Tajik population were more similar to that of Caucasians.	Cohort 177/99/87 Chinese Han (n=177), Tajik (n=99) and She (n=87) individuals China 										
139491	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3B	159859676	159867525		Hong, C. H.  et al. 2005	15934433				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Korean		CDC GDPinfo	2215	HS.372679			Lupus. 2005 ;14(5):346-50	The association between fcgammaRIIIB polymorphisms and systemic lupus erythematosus in Korea.		610665	10666	2	2005	Although FcgammaRIIIB polymorphism was not associated with the development of SLE in Korean, thrombocytopenia was associated with FcgammaRIIIB NA2/NA2 genotype, and NA2 allele.	Case:183 Korean systemic lupus erythematosus patients (166 female, 17 male);Control:300 Korean disease-fee controls										
139492		periodontal disease	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Flesch, B. K.  et al. 2002	12076295				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	German		CDC GDPinfo	2215	HS.372679			Transfusion. 2002 Apr;42(4):469-75	FCGR3 variants and expression of human neutrophil antigen-1a, -1b, and -1c in the populations of northern Germany and Uganda.		610665	16673	2	2002	 The coincidence of the three known FCGR3B alleles varies within the population of Germany and Uganda. Three simultaneous FCGR3B forms may be explained by two gene loci, but the basis of the high number of different variants in some individuals still remains unclear. Possible explanations may be a hypermutation mechanism or a number of FCGR3 higher than expected hitherto.	Cohort 260/43 northern German blood donors (n=260) and individuals from Uganda (n=43) 										
139493	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Zhang, H. X.  et al. 2003	12839649				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Chinese		CDC GDPinfo	2215	HS.372679			Zhonghua kou qiang yi xue za zhi. 2003 Mar;38(2):129-31	[Relevance of FcgammaRIIIb genotype, IgG G2m(23) factor to the susceptibility of aggressive periodontitis]		610665	16674	2	2003	 This study indicates that FcgammaRIIIb-NA1/NA1 genotype may be a susceptible genotype to aggressive periodontitis in Chinese population. Subjects with FcgammaRIIIb NA1/NA1 genotype and positive G2m(23) factor may be more susceptible to aggressive periodontitis.	Case:21 Chinese aggressive periodontitis patients;Control:26 healthy controls										
139494		periodontal disease	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Tong, Y.  et al. 2003	12898191				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Chinese		CDC GDPinfo	2215	HS.372679			Annals of hematology. 2003 Sep;82(9):574-8	FCGR3B gene frequencies and FCGR3 variants in a Chinese population from Zhejiang Province		610665	16675	2	2003	Gene variants caused by single nucleotide exchanges were found in addition to the well-known forms, but the reason for this remains unclear.	Cohort 413 healthy Chinese individuals Zhejiang Province, China 										
139495		periodontal disease	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Tong, Y.  et al. 2004	15500735				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Chinese		CDC GDPinfo	2215	HS.372679			Zhonghua yi xue za zhi. 2004 Sep;84(17):1426-8	[FCGR3B gene frequencies and FCGR3 gene variants in Chinese: a study in 487 Chinese individuals fromZhejiang Province.]		610665	16677	2	2004	 FCGR3B(*1) gene is more frequent in a Chinese population from Zhejiang Province than the FCGR3B(*2) gene, and the FCGR3B(*3) gene seems to be absent. Gene variants caused by single nucleotide exchanges are found in addition to the well known forms, but the reason for this remains unclear.	Cohort 487 Chinese healthy blood donors Zhejiang Province, China 										
139496		rheumatoid arthritis	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Covas, D. T.  et al. 2005	15713217				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Brazilian		CDC GDPinfo	2215	HS.372679			Tissue antigens. 2005 Feb;65(2):178-82	Variation in the FcgammaR3B gene among distinct Brazilian populations.		610665	16678	2	2005	The variant haplotype FCGR3B*1 A227G, which occurred in homozygosis in two Amerindians and in heterozygosis in two Afro-Brazilians, is described for the first time in the present report. In general, these data reveal variability in the frequency of alleles of the FCGR3B gene compared to other populations of the same genetic background in other regions of the world.	Cohort 149 individuals belonging to four distinct Brazilian populations, i.e., 60 Amerindians, 30 Whites of European descent, 30 Afro-Brazilians, and 30 Japanese 										
139497		periodontal disease	IMMUNE	IMM	Periodontal Diseases|Disease Progression|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Yoshihara, A.  et al. 2005	15974849				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	CDC GDPinfo	2215	HS.372679			Journal of periodontology. 2005 Feb;76(2):250-5	FcgammaRIIIb genotypes and smoking in periodontal disease progression among community-dwelling older adults in Japan.		610665	16679	2	2005	 Our results may suggest an association between smoking and periodontal disease progression in elderly people with FcgammaRIIIb-NA2 polymorphism.		smoking (tobacco)									
139499		malaria	INFECTION	INF	Sickle Cell Trait	1	1q23	FCGR3B	159859676	159867525		Kuwano, S. T.  et al. 2000	11099670				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Indian	Brazil	CDC GDPinfo	2215	HS.372679			Transfusion. 2000 Nov;40(11):1388-92	Allelic polymorphisms of human fcgamma receptor IIa and Fcgamma receptor IIIb among distinct groups in Brazil.		610665	21454	2	2000	 Overall, the data indicate that the distribution of the FcgammaRIIIB alleles is significantly different in Amazon Indians from the distribution in Brazilian blood donors or African Brazilian patients with SCD, but that it is similar to the distributions reported in Asian populations. Moreover, the distribution of the FcgammaRIIA and FcgammaRIIIB alleles among Brazilian blood donors and SCD patients is comparable to the distributions reported in whites from the United States and Europe.	Cohort 263 unrelated Brazilian subjects, including Amazon Indians (n = 92), blood donors (n = 85), and patients with sickle cell disease (SCD) (n = 86) 										
139500	Y	malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Omi, K.  et al. 2002	12421634				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569		Thailand	CDC GDPinfo	2215	HS.372679			Parasitology international. 2002 Dec;51(4):361-6	Fcgamma receptor IIA and IIIB polymorphisms are associated with susceptibility to cerebral malaria.		610665	21455	2	2002	This study reveals that, with the FcgammaRIIIB-NA2 allele, the FcgammaRIIA-131H/H genotype is associated with susceptibility to cerebral malaria (OR 1.85, 95% CI 1.14-3.01; P=0.012), although these polymorphisms are not individually involved in the disease severity. Our results suggest that FcgammaRIIA-131H/R and FcgammaRIIIB-NA1/NA2 polymorphisms have an interactive effect on host defense against malaria infection.	Case:107 cerebral malaria patients;Control:157/202 non-cerebral sever (n=157) and mild (n=202) mala										
139501		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Berdeli, A.  et al. 2004	15369725				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569		Turkey	CDC GDPinfo	2215	HS.372679			Clinical biochemistry. 2004 Oct;37(10):925-9	Involvement of immunoglobulin FcgammaRIIA and FcgammaRIIIB gene polymorphisms in susceptibility to rheumatic fever		610665	21456	2	2004	 The FcgammaRIIA-R/H-131 polymorphism may be an important marker in determining predisposition to RF.	Control:117 healthy controls;Case:66 rheumatic fever cases										
139502		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Chung, H. Y.  et al. 2003	14761117				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569		Taiwan	CDC GDPinfo	2215	HS.372679			Journal of clinical periodontology. 2003 Nov;30(11):954-60	Gm (23) allotypes and Fcgamma receptor genotypes as risk factors for various forms of periodontitis.		610665	21457	2	2003	 The Gm (23-) allotype might be a potential risk factor for CP. Although the R131 allele of FcgammaR IIa occurred more frequently in G-AP than in CP, its clinical significance could not be justified in this study.	Case:50/30 patients with chronic periodontitis (n=50) and patients with generalized aggressive periodontitis:(n=30);Control:74 healthy controls										
139503		lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Lee, H. S.  et al. 2003	12867584				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Korean		CDC GDPinfo	2215	HS.372679			Rheumatology (Oxford, England). 2003 Dec;42(12):1501-7	Independent association of HLA-DR and FCgamma receptor polymorphisms in Korean patients with systemic lupus erythematosus.		610665	21458	2	2003	 Our results suggest that FcgammaRIIa-R/R131 homozygote and HLA-DRB1*15 allele are independent risk factors in Korean SLE patients without additive or synergistic effects.	Control:144 Korean disease-free controls;Case:299 SLE patients meeting 1982 ACR criteria										
139504		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Siriboonrit, U.  et al. 2003	12753656				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Thai	Thailand|Japan	CDC GDPinfo	2215	HS.372679			Tissue antigens. 2003 May;61(5):374-83	Association of Fcgamma receptor IIb and IIIb polymorphisms with susceptibility to systemic lupus erythematosus in Thais.		610665	21459	2	2003	These results provided evidence that FcgammaR polymorphisms may be an important predisposing factor also in Thais in a complex manner.	Case patients with systemic lupus erythematosus:Thailand;Control:controls										
139505		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Yamamoto, K.  et al. 2004	15152814				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Caucasian		CDC GDPinfo	2215	HS.372679			Journal of periodontology. 2004 Apr;75(4):517-22	Association of Fcgamma receptor IIa genotype with chronic periodontitis in Caucasians		610665	21460	2	2004	 Our results suggest that the FcgammaRIIa-H/H131 genotype may be associated with chronic periodontitis risk (and disease severity) in Caucasian smokers. Further studies with families and studies of mechanisms are necessary to help establish the extent to which this is a genetic determinant of periodontal diseases.	Control:209 subjects with mean CAL < or = 1.77 mm considered as having little or no periodontal disease (125 never-smokers and 84 smokers);Case:213 subjects with mean CAL > or = 2.94 mm diagnosed with chronic periodontitis (62 never-smokers and 151 smokers)	smoking (tobacco)									
139506		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Cryoglobulinemia|Autoimmune Diseases	1	1q23	FCGR3B	159859676	159867525		Vassilopoulos, D.  et al. 2003	14740435				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Clinical and experimental rheumatology. 2003 Nov-Dec;21(6 Suppl 32):S101-11	Study of host and virological factors of patients with chronic HCV infection and associated laboratory or clinical autoimmune manifestations.		610665	21461	2	2003	 Chronically infected HCV patients with symptomatic mixed cryoglobulinemia display a number of unique characteristics that differentiate them from asymptomatic patients with chronic hepatitis C.	Cohort 40 HCV patients with liver disease only (n = 11), with laboratory (n = 20) or clinical (n = 9) autoimmune manifestations 										
139507		urinary tract infection	UNKNOWN	UNK	Urinary Tract Infections|Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Hughes, L. B.  et al. 2004	15526004				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Genes and immunity. 2004 Dec;5(8):641-7	Genetic risk factors for infection in patients with early rheumatoid arthritis.		610665	21462	2	2004	These findings have important implications for the role of genetics in susceptibility to bacterial and viral infections.	Cohort 457 subjects with early rheumatoid arthritis 										
139508		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525			16356189				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Arthritis research & therapy. 2005 Nov;8(1):R5	Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a majorsusceptibility gene at this locus, with an additional contribution from FCGR3B		610665	24421	2	2005												
139509	Y	periodontitis	IMMUNE	IMM	Periodontal Diseases	1	1q23	FCGR3B	159859676	159867525		Meisel, P.  et al. 2001	11528518				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Genes and immunity. 2001 Aug;2(5):258-62	Polymorphisms of Fc gamma-receptors RIIa, RIIIa, and RIIIb in patients with adult periodontal diseases.		610665	24422	2	2001	The results are evidence that the FcgammaRIIIa genotype coding for the high affinity receptor imposes an additional risk of bone loss as does the FcgammaRIIIb genotype coding for the low affinity receptor.	Cohort 154 Caucasian subjects 										
139511		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3B	159859676	159867525		Brun, J. G.  et al. 2002	12064825				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			The Journal of rheumatology. 2002 Jun;29(6):1135-40	Immunoglobulin G fc-receptor (FcgammaR) IIA, IIIA, and IIIB polymorphisms related to disease severity in rheumatoid arthritis.		610665	24424	2	2002	 FcgammaRIIA is implicated as a possible disease modifying gene in RA. Individuals homozygous for the FcgammaRIIA R allele have less efficient binding of IgG2 subclasses than individuals homozygous for the H allele. Less effective processing of circulating immune complexes in RA patients homozygous for the FcgammaRIIA R allele may therefore contribute to a more unfavorable course.	Case:114 patients with rheumatoid arthritis;Case:96:controls										
139512		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3B	159859676	159867525		Gonzalez-Escribano, M. F.  et al. 2002	12121275				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Spanish	Spain	CDC GDPinfo	2215	HS.372679			European journal of immunogenetics. 2002 Aug;29(4):301-6	FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB polymorphisms in Spanish patients with systemic lupus erythematosus.		610665	24425	2	2002	With respect to the FcgammaRIIA-131 and FcgammaRIIIA-176 polymorphisms, no differences were found between patients and controls. Patient stratification according to their lupus-related nephritis status gave similar genotypic distribution patterns in both disease categories in all the cases.	Control:194 ethnically matched controls;Case:276 Spanish patients (34 male and 242 female) with systemic lupus erythematosus										
139513	Y	systemic lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Manger, K.  et al. 2002	12176802				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	German	Germany	CDC GDPinfo	2215	HS.372679			Annals of the rheumatic diseases. 2002 Sep;61(9):786-92	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms		610665	24426	2	2002	 The results of this explorative study support the view that the FcgammaRIIa/IIIa and IIIb polymorphisms constitute factors influencing clinical manifestations and the disease course of SLE but do not represent genetic risk factors for the occurrence of SLE. Higher frequencies of clinical symptoms, haematological and immunological abnormalities as well as an earlier onset of clinical symptoms, haematological and immunological markers of active disease were found in patients with the IIA-R/R131 genotype and the double negative and triple negative genotypes.	Case:140 German patients with systemic lupus erythematosus:Germany;Control:187 German controls										
139514		poliomyelitis	OTHER	OTH	Poliomyelitis|Postpoliomyelitis Syndrome|Acute Disease|Disease Progression|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Rekand, T.  et al. 2002	12447772				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			The Journal of infectious diseases. 2002 Dec;186(12):1840-3	Fcgamma receptor IIIA polymorphism as a risk factor for acute poliomyelitis.		610665	24427	2	2002	In comparison with healthy control subjects without a history of poliomyelitis, significantly fewer patients had the FcgammaRIIIA genotype V/V (P<.01). However, this genotype was not an independent risk factor for PPS. The FcgammaRIIA and IIIB genotypes and allele frequencies did not differ between the patients and control subjects. The FcgammaRIIIA V/V genotype may lower the risk for contracting acute poliomyelitis through better clearance of poliovirus.	Control healthy control subjects without a history of:poliomyelitis;Case:110 Norwegian patients with well-defined histories of acute poliomyelitis										
139515	Y	malaria	INFECTION	INF	Malaria, Cerebral	1	1q23	FCGR3B	159859676	159867525		Omi, K.  et al. 2002	12501257				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Thai		CDC GDPinfo	2215	HS.372679			Japanese journal of infectious diseases. 2002 Oct;55(5):167-9	Absence of association between the Fc gamma receptor IIIA-176F/V polymorphism and the severity of malaria in Thai.		610665	24428	2	2002	Thus, we concluded that the association of Fc gamma RIIA-131H/R and Fc gamma RIIIB-NA1/NA2 polymorphisms with cerebral malaria in Thailand is not due to the LD caused by Fc gamma RIIIA-176F/V.	Cohort 462 adult Thai patients with Plasmodium falciparum malaria 										
139516		multiple sclerosis; lupus erythematosus; Wegener's granulomatosis; Guillain-Barre syndrome; thrombocytopenic purpura, idiopathic	IMMUNE	IMM	Wegener Granulomatosis|Guillain-Barre Syndrome|Autoimmune Diseases|Lupus Erythematosus, Systemic|Purpura, Thrombocytopenic, Idiopathic	1	1q23	FCGR3B	159859676	159867525		Binstadt, B. A.  et al. 2003	12704346				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			The Journal of allergy and clinical immunology. 2003 Apr;111(4):697-703	IgG Fc receptor polymorphisms in human disease:implications for intravenous immunoglobulin therapy.		610665	24429	2	2003	Review article											
139517	Y	lupus erythematosus; periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic	1	1q23	FCGR3B	159859676	159867525		Kobayashi, T.  et al. 2003	12710759				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Journal of periodontology. 2003 Mar;74(3):378-84	Risk of periodontitis in systemic lupus erythematosus is associated with Fcgamma receptor polymorphisms.		610665	24430	2	2003	 These results show the FcgammaRIIa-R131 allele to be associated with periodontitis risk in SLE patients.	Case:42/18 SLE patients with periodontitis (n=42) and SLE patients without periodontitis (n=18);Control:42/42 healthy subjects with periodontitis (n=42), and healthy subjects without periodontitis (n=42 )										
139518		periodontitis	IMMUNE	IMM	Periodontitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Loos, B.  et al. 2003	12834496				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Caucasian	United States|Europe	CDC GDPinfo	2215	HS.372679			Journal of clinical periodontology. 2003 Jul;30(7):595-602	Fcgamma receptor polymorphisms in relation to periodontitis.		610665	24431	2	2003	 The current study of relative small sample size suggests that the FcgammaRIIa-H/H131 genotype may be a putative susceptibility and severity factor, and the FcgammaRIIIa-V158 allele a putative susceptibility factor for periodontitis in Northern European Caucasians. These results need further verification and the biological importance of these findings needs further investigation.	Control:61 controls (Northern European Caucasian background, mean ages 44 and 42 years):case:68 periodontitis patients (Northern European Caucasian background, mean ages 44 and 42 years)	smoking (tobacco)									
139519	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	1	1q23	FCGR3B	159859676	159867525		Breij, E. C.  et al. 2003	12864991				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Journal of neuroimmunology. 2003 Jul;140(2-Jan):210-5	No association of Fc gamma RIIa, Fc gamma RIIIa and Fc gamma RIIIb polymorphisms with MS		610665	24432	2	2003	We conclude that  Fcgamma receptor polymorphisms influence neither susceptibility nor clinical disease course of MS.	Case:432 multiple sclerosis patients;Control:515 healthy controls										
139520	N	lupus erythematosus	IMMUNE	IMM	Infection|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Chen, J. Y.  et al. 2004	15194589				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569		Taiwan	CDC GDPinfo	2215	HS.372679			Annals of the rheumatic diseases. 2004 Jul;63(7):877-80	Fcgamma receptor IIa, IIIa, and IIIb polymorphisms of systemic lupus erythematosus in Taiwan.		610665	24433	2	2004	 Fcgamma receptor IIa, IIIa, and IIIb polymorphisms may be responsible for the development of distinct manifestations of lupus patients in Taiwan, but there is no significantly skewed distribution in the susceptibility to lupus as a whole.	Case:302 patients with systemic lupus erythematosus:Taiwan;Control:311 healthy blood donors										
139521		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		van Sorge, N. M.  et al. 2005	15833371				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Journal of neuroimmunology. 2005 May;162(2-Jan):157-64	Severity of Guillain-Barr???? syndrome is associated with Fc gamma Receptor III polymorphisms.		610665	24434	2	2005	Results suggest that FcgammaRIII genotypes may represent mild disease-modifying factors in GBS.	Case:345 Guillain-Barre syndrome patients from Dutch and British cohorts;Control:714 healthy controls										
139522		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Inflammation	1	1q23	FCGR3B	159859676	159867525		Gavasso, S.  et al. 2005	15910853				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Atherosclerosis. 2005 Jun;180(2):277-82	Fcgamma receptor IIIA polymorphism as a risk-factor for coronary artery disease.		610665	24435	2	2005	 Our data provide evidence for an association between FcgammaRIIIA allelic variants and coronary atherosclerosis. Genetic variation in this IgG-receptor may influence the clearance of antibodies by monocyte-derived macrophages involved in the pathogenesis of CAD.	Cohort 882 patients undergoing diagnostic coronary angiogrpahy 										
139523		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	1	1q23	FCGR3B	159859676	159867525		Taniuchi, S.  et al. 2005	16133986				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Journal of clinical immunology. 2005 Jul;25(4):309-13	Polymorphism of Fcgamma RIIa may affect the efficacy of gamma-globulin therapy in Kawasaki disease.		610665	24436	2	2005												
139525	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Fu, Y.  et al. 2002	12027254				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	African American		CDC GDPinfo	2215	HS.372679			Journal of periodontology. 2002 May;73(5):517-23	Fc gamma receptor genes as risk markers for localized aggressive periodontitis in African-Americans.		610665	24438	2	2002	 These data suggest that the Fc gammaRIIIb NA2 allele and/or NA2/NA2 genotype may represent risk markers for susceptibility to LAgP in African-Americans.	Case:48 localized aggressive periodontitis African-American:subjects;Control:67 periodontally-healthy African-American subjects										
139526		myasthenia gravis	IMMUNE	IMM	Thymoma|Myasthenia Gravis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		van der Pol, W. L.  et al. 2003	14597109				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Dutch	Netherlands	CDC GDPinfo	2215	HS.372679			Journal of neuroimmunology. 2003 Nov;144(2-Jan):143-7	Association of the Fc gamma receptor IIA-R/R131 genotype with myasthenia gravis in Dutch patients.		610665	24439	2	2003	These data suggest that the FcgammaRIIa-R/R131 genotype is a marker for susceptibility to MG.	Case:107 myasthenia gravis patients;Control:239 healthy controls										
139527		agranulocytosis, drug induced	HEMATOLOGICAL	HEM	Agranulocytosis	1	1q23	FCGR3B	159859676	159867525		Mosyagin, I.  et al. 2005	16160618				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Journal of clinical psychopharmacology. 2005 Oct;25(5):435-40	Drug-induced agranulocytosis: impact of differentfcgamma receptor polymorphisms?		610665	24440	2	2005												
139529		meningococcal disease	INFECTION	INF	Meningococcal Infections	1	1q23	FCGR3B	159859676	159867525		van Der Pol, W. L.  et al. 2001	11740730				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			The Journal of infectious diseases. 2001 Dec;184(12):1548-55	Relevance of Fcgamma receptor and interleukin-10 polymorphisms for meningococcal disease.		610665	24442	2	2001	These data provide further evidence for the association of polymorphic genes on chromosome 1 and meningococcal disease.	Control:183 first-degree relatives of meningococcal disease:patients;Control:239 healthy controls subjects;Case:50 patients with meningococcal disease										
139530		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Criswell, L. A.  et al. 2004	15457442				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		610665	24443	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
139531		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Chu, Z. T.  et al. 2004	14651519				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Chinese		CDC GDPinfo	2215	HS.372679			Tissue antigens. 2004 Jan;63(1):21-7	Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in theAsian populations.		610665	26004	2	2004	When the present results were combined with our previous data on the Japanese and the Thais using meta-analytic methods, highly significant and independent association was observed for FCGR2B and FCGR3A genotypes. These results strongly suggested that FCGR2B is a common susceptibility factor to SLE in the Asians.	Control:129 healthy controls;Case:167 Chinese patients with systemic lupus erythematosus										
139532		lupus erythematosus; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Torkildsen, O.  et al. 2005	15946259				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Immunology. 2005 Jul;115(3):416-21	Ethnic variation of Fc gamma receptor polymorphism in Sami and Norwegian populations.		610665	26005	2	2005												
139534		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q23	FCGR3B	159859676	159867525		Kyogoku, C.  et al. 2002	12486608				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	CDC GDPinfo	2215	HS.372679			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		610665	26007	2	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
139535		candidiasis	INFECTION	INF	Candidiasis|Leukemia|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Choi, E. H.  et al. 2005	16110781				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Medical mycology. 2005 Jun;43(4):349-53	Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients.		610665	26866	2	2005												
139537		lupus erythematosus; nephrotic syndrome; agranulocytosis, drug induced	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Van Der Pol, W. L.  et al. 2003	12830330				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Immunogenetics. 2003 Jul;55(4):240-6	Evidence for non-random distribution of Fcgamma receptor genotype combinations.		610665	26868	2	2003	This study provides important information for the interpretation of studies reporting associations of FcgammaR alleles with disease, and underscores the apparent differences in FcgammaR heterogeneity between ethnic groups.	Cohort 514/149 Dutch Caucasian (n=514) and Japanese blood donors (n=149) 										
139538	Y	lung cancer and preneoplastic bronchial lesions	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Bronchial Neoplasms|Lung Neoplasms|Precancerous Conditions|Chromosome Fragility	3		FHIT	60433142	60441465		Fong KM et al. 1997	9187130			splice variant	fragile histidine triad gene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641016			KGB	2272	Hs.196981			Cancer research. 1997 Jun;57(11):2256-67	FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations.		601153	2691	1	1997												
139539	Y	tumour kinetics and chromosomal instability	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	3	3p14.2	FHIT	59710075	61212164		Garinis GA et al. 2001	11169516				fragile histidine triad gene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			The Journal of pathology. 2001 Jan;193(1):55-65	Association of allelic loss at the FHIT locus and p53 alterations with tumour kinetics and chromosomal instability in non-small cell lung carcinomas (NSCLCs).		601153	2692	1	2001												
139540		betel-associated oral carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Precancerous Conditions	3	3p14.2	FHIT	59710075	61212164		Chang KW et al. 2002	11857493				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			The Journal of pathology. 2002 Mar;196(3):300-6	Multiple molecular alterations of FHIT in betel-associated oral carcinoma.		601153	7047	1	2002												
139541		tumor progression and patient survival	CANCER	CAN	Breast Neoplasms|Disease Progression	3	3p14.2	FHIT	59710075	61212164		Ingvarsson S et al. 2001	11425271				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			Cancer detection and prevention. 2001 ;25(3):292-8	Alterations of the FHIT gene in breast cancer: association with tumor progression and patient survival.		601153	7048	1	2001	We conclude that  the loss of FHIT results in growth advantage of breast tumor cells, is associated with unstable genome, and may be of prognostic value.											
139542		tumour progression and prognosis	CANCER	CAN	Stomach Neoplasms|Disease Progression	3	3p14.2	FHIT	59710075	61212164		Noguchi T et al. 1999	10440747				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			The Journal of pathology. 1999 Aug;188(4):378-81	FHIT gene in gastric cancer: association with tumour progression and prognosis.		601153	7049	1	1999												
139544		colorectal cancer patients	CANCER	CAN	Neoplasms|Colorectal Neoplasms	3	3p14.2	FHIT	59710075	61212164		Petursdottir TE et al. 2002	12530066				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981	survival		Anticancer research. 2002 Nov-Dec;22(6A):3205-12	Loss of heterozygosity at the FHIT gene in different solid human tumours and its association with survival in colorectal cancer patients.		601153	7051	1	2002	 Based on our results, LOH of the FHIT gene is a common event in all tumour types analysed with a possible association with poorer survival in colorectal cancer patients. LOH at all markers analysed was, in most of the tumour types, a more common pattern of alterations than breakpoints.											
139545	Y	smoking	CANCER	CAN	Lung Neoplasms|Chromosome Fragility|Chromosome Deletion	3	3p14.2	FHIT	59710075	61212164		Sozzi G et al. 1997	9187107				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981	smoking		Cancer research. 1997 Jun;57(11):2121-3	Association between cigarette smoking and FHIT gene alterations in lung cancer.		601153	7052	1	1997												
139547	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	3	3p14.2	FHIT	59710075	61212164		Jee, S. H.  et al. 2003	14675322	codon 98			Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1	Korean	Korea	CDC GDPinfo	2272	Hs.196981			International journal of gynecological cancer. 2003 Nov-Dec;13(6):843-8	The effect of codon 98 of the FHIT gene on cervical cancer in Korean women		601153	16705	2	2003	Polymorphisms of FHIT are associated with a higher risk of developing cervical cancer, in particular early onset cervical carcinogenesis.	Control:506 normal healthy women;Case:567 patietns diagnosed with cervical neoplasia who had positive result for human papillomavirus	smoking (tobacco)									
139548	Y	triplet repeat expansion at FRAXA and FRAXE	OTHER	OTH	Fragile X Syndrome	X	Xq27.3	FRAXA				Subramanian PS et al. 1996	8755928				fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)				KGB	2477				American journal of human genetics. 1996 Aug;59(2):407-16	Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.		309550	2717	1	1996												
139549		essential tremor; cerebral ataxia; multiple-system atropy; parkinsonism	NEUROLOGICAL	NEUR	Parkinson Disease|Cerebellar Ataxia|Movement Disorders|Essential Tremor|Multiple System Atrophy|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Tan, E. K.  et al. 2004	15277639				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Singapore	CDC GDPinfo	2477				Neurology. 2004 Jul;63(2):362-3	Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.		309550	10743	2	2004	These findings suggest that in the absence of other supportive clinical or imaging features, the cost-effectiveness of routine fragile X tremor/ataxia syndrome screening in this Asian cohort with movement disorders was low.	Case:167 Asian patients with essential tremor;Control:200 healthy controls										
139550		Fragile X Syndrome; periodontitis	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702			11898618				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Siberia	CDC GDPinfo	2477				Genetika. 2002 Feb;38(2):268-73	[Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk]		309550	10744	2		The FRAXE allele frequency distribution was demonstrated to be normal with 18 allelic variants ranging from 9 to 27 GCC repeat units. In the population of Tomsk this locus had higher than in other populations frequency (26.7%) of short (less than 15 repeat units in size) alleles. In addition, in the Tomsk population both loci were characterized by high level of heterozygosity and low frequencies of modal allele classes. These results can be explained by the high level of outbreeding typical of the population of Siberia.	Cohort Slavic population of Tomsk. Tomsk, Russia 										
139551	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Annesi, G.  et al. 2004	15342126				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Neuroscience letters. 2004 Sep;368(1):21-4	FRAXE intermediate alleles are associated with Parkinson's disease		309550	10745	2	2004	FRAXE intermediate alleles (31-60 repeats CCG) were found in 13 of 203 (6.4%) subjects with PD and in only one of the 370 (0.27%) healthy controls (P < 0.001), thus indicating that these relatively large alleles may be associated with PD.	Case:203 male subjects with Parkinson's disease;Control:370 healthy controls										
139552	N	Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Limprasert, P.  et al. 2001	11169559				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)		Thai	Thailand	CDC GDPinfo	2477				American journal of medical genetics. 2001 Jan;98(3):224-9	Haplotype analysis at the FRAXA locus in Thai subjects.		309550	16750	2	2001	The two major haplotypes associated FXS in Thai subjects were the two most common haplotypes in the normal Thai subjects. We could not prove, therefore, that there were founder effects at the FRAXA locus in Thailand. We could not, however, exclude it completely. These findings apparently contrast with most other reports on FXS founder effects in various ethnic groups.	Control:125 unrelated control subjects;Case:25 unrelated Thai fragile X syndrome patients:Thailand										
139553		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Duran Dominguez, M.  et al. 2001	11273816				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Spain	CDC GDPinfo	2477				An Esp Pediatr. 2001 Apr;54(4):331-9	MOLECULAR DIAGNOSIS OF FRAGILE X SYNDROME BY POLYMERASE CHAIN REACTION: APPLICATION OF ADIAGNOSTIC PROTOCOL IN 50FAMILIES FROM NORTHERN SPAIN		309550	16751	2	2001	 These non-radioactive PCR protocols permit rapid and accurate diagnosis of FXS. They and are especially useful in prenatal diagnosis and in the identification of carriers.	Cohort 438 individuals from 50 families with fxs 										
139554		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		McConkie-Rosell, A.  et al. 2001	11426454				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				American journal of medical genetics. 2001 Jan;98(1):37-45	Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.		309550	16752	2	2001	The coping behaviors identified were minimization, acceptance of the possibility of being a carrier, a sense of being able to deal with the outcome of the carrier test, positive comparison, problem solving, and positive interpretation.	Cohort 20 carriers of the fragile X mutation Cohort 22 noncarriers of the fragile X mutation 										
139555		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Macpherson, J.  et al. 2003	12612802				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Human genetics. 2003 May;112(6-May):619-20	Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia.		309550	16753	2	2003	Our patients extend the phenotype associated with the FRAXA premutation and indicate that it may account for a proportion of undiagnosed NEUROLOGICALenerative disorders.	Cohort 59 male patients with spinocerebellar ataxia 										
139557		Fragile X Syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Major, T.  et al. 2003	14668200				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Yugoslavia	CDC GDPinfo	2477				Journal of neurogenetics. 2003 Apr-Sep;17(3-Feb):223-30	Prevalence of the fragile X syndrome in Yugoslav patients with non-specific mental retardation.		309550	16755	2	2003	Premutation alleles with more than 45 repeats were not found in control nor in the MR group.	Case:97 unrelated individuals diagnosed with non-specific mental retardation:Yugoslavia;Control:99 healthy subjects										
139558	Y	premature ovarian failure	REPRODUCTION	REP	Fragile X Syndrome|Menopause, Premature|Ovarian Failure, Premature|Genetic Predisposition to Disease	X	Xq27.3	FRAXA	146699079	146737702		Bussani, C.  et al. 2004	14746957				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Italy	CDC GDPinfo	2477				European journal of obstetrics, gynecology, and reproductive biology. 2004 Feb;112(2):189-91	Premature ovarian failure and fragile X premutation: a study on 45 women.		309550	16756	2	2004	 Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation.	Control:28 women >45 years, with one or more children and no signs of premature ovarian failure;Case:45 women with idiopathic premature ovarian failure, five with a familial and 40 with a sporadic form										
139559		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Biancalana, V.  et al. 2004	15326620				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			France	CDC GDPinfo	2477				American journal of medical genetics Part A. 2004 Sep;129(3):218-24	Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative studyreporting 95% of the activity in France.		309550	16757	2	2004	Over this period, 477 new families were diagnosed with Fragile X, representing 2.8% of tested male probands (417/14,867) and 1.0% of tested female probands (60/5,949). Forty one percent of positive cases corresponded to probands with a familial history of mental retardation, compared to 66% in the initial (1991-1994) study. We also discuss issues concerning premutations discovered in affected individuals and in females with premature ovarian failure (POF).	Cohort 20,816 mentally retarded probands with no previous familial diagnosis 1997 - 2001 										
139560		Fragile X Syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Mental Retardation, X-Linked|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Huang, Y. T.  et al. 2004	15335113				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Taiwan	CDC GDPinfo	2477				Acta paediatrica Taiwanica. 2004 Mar-Apr;45(2):69-72	A step-wise diagnosis of fragile X syndrome in Taiwan		309550	16758	2	2004	This screening method is useful for the detection of fragile X syndrome.	Cohort 145 cases selected from 734 children with mental retardation enrolled from kindergartens, primary schools, junior high schools, and schools for the mentally retarded Taiwan 										
139561		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	X	Xq27.3	FRAXA	146699079	146737702		Garland, E. M.  et al. 2004	15546601				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Journal of the neurological sciences. 2004 Dec;227(1):115-8	Fragile X gene premutation in multiple system atrophy.		309550	16759	2	2004	This is similar to the frequency reported in the normal population, suggesting that this expansion does not play a major role in the MSA phenotype.	Cohort 65 multiple system atrophy patients 										
139562		premature ovarian failure	REPRODUCTION	REP	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Tzeng, C. C.  et al. 2005	15637705				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)		Chinese	Taiwan	CDC GDPinfo	2477				American journal of medical genetics Part A. 2005 Feb;133(1):37-43	Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype		309550	16760	2	2005	Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan.	Cohort 10,046 newborn boys Taiwan 										
139563		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Cronister, A.  et al. 2005	15834242				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Genetics in medicine. 2005 Apr;7(4):246-50	Fragile X syndrome carrier screening in the prenatal genetic counseling setting.		309550	16761	2	2005	 Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.	Cohort 29,103 women with no known or suspected family history of fragile X syndrome 										
139564		Fragile X Syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Ravindran, M. S.  et al. 2005	15900569				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)		Indian	India	CDC GDPinfo	2477				Journal of clinical laboratory analysis. 2005 ;19(3):120-3	Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X Syndrome in the Indian population.		309550	16762	2	2005	This noninvasive test requires one or two drops of blood and is rapid, simple, and cheap, making it an ideal choice for large screening large groups of male mental retardates and neonates for FXS in developing countries such as India.	Cohort normal individuals and patients with Fragile X syndrome 										
139565		autism; Asperger syndrome	PSYCH	PSY	Asperger Syndrome|Autistic Disorder	X	Xq27.3	FRAXA	146699079	146737702		Steiner, C. E.  et al. 2003	12806492				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Arquivos de neuro-psiquiatria. 2003 Jun;61(2A):176-80	Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.		309550	16763	2	2003	Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.	Cohort 103 outpatients 										
139566		Fragile X Syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq27.3	FRAXA	146699079	146737702		Bastaki, L. A.  et al. 2004	16201716				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Kuwait	CDC GDPinfo	2477				Eastern Mediterranean health journal. 2004 Jan-Mar;10(2-Jan):116-24	Fragile X syndrome: a clinico-genetic study ofmentally retarded patients in Kuwait.		309550	16764	2	2004												
139567		myotonic dystrophy type 1	OTHER	OTH	Spinocerebellar Ataxias	X	Xq27.3	FRAXA	146699079	146737702		Savic, D.  et al. 2001	11807410				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		309550	24456	2	2001	Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions.	Control:133 healthy control subjects;Case:52 myotonic dystrophy type 1 patients;Control:68 patients with non-triplet neuromuscular diseases caused by point mutations, deletions or:duplications										
139568		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	X	Xq27.3	FRAXA	146699079	146737702		Culjkovic, B.  et al. 2000	11121205				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)				CDC GDPinfo	2477				American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		309550	27425	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
139569	Y	triplet repeat expansion at FRAXA and FRAXE	OTHER	OTH	Fragile X Syndrome	X	Xq28	FRAXE	147287685	147787753		Subramanian PS et al. 1996	8755928				fragile site, folic acid type, rare, fra(X)(q28) E				KGB	2481				American journal of human genetics. 1996 Aug;59(2):407-16	Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.		309548	2718	1	1996												
139570		Fragile X Syndrome; periodontitis	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq28	FRAXE	147287685	147787753			11898618				fragile site, folic acid type, rare, fra(X)(q28)			Siberia	CDC GDPinfo	2481				Genetika. 2002 Feb;38(2):268-73	[Polymorphism of trinucleotide repeats at loci FRAXA and FRAXE in the population of Tomsk]		309548	21485	2		The FRAXE allele frequency distribution was demonstrated to be normal with 18 allelic variants ranging from 9 to 27 GCC repeat units. In the population of Tomsk this locus had higher than in other populations frequency (26.7%) of short (less than 15 repeat units in size) alleles. In addition, in the Tomsk population both loci were characterized by high level of heterozygosity and low frequencies of modal allele classes. These results can be explained by the high level of outbreeding typical of the population of Siberia.	Cohort Slavic population of Tomsk. Tomsk, Russia 										
139571	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Fragile X Syndrome	X	Xq28	FRAXE	147287685	147787753		Annesi, G.  et al. 2004	15342126				fragile site, folic acid type, rare, fra(X)(q28)				CDC GDPinfo	2481				Neuroscience letters. 2004 Sep;368(1):21-4	FRAXE intermediate alleles are associated with Parkinson's disease		309548	21486	2	2004	FRAXE intermediate alleles (31-60 repeats CCG) were found in 13 of 203 (6.4%) subjects with PD and in only one of the 370 (0.27%) healthy controls (P < 0.001), thus indicating that these relatively large alleles may be associated with PD.	Case:203 male subjects with Parkinson's disease;Control:370 healthy controls										
139572		Fragile X Syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq28	FRAXE	147287685	147787753		Bastaki, L. A.  et al. 2004	16201716				fragile site, folic acid type, rare, fra(X)(q28)			Kuwait	CDC GDPinfo	2481				Eastern Mediterranean health journal. 2004 Jan-Mar;10(2-Jan):116-24	Fragile X syndrome: a clinico-genetic study ofmentally retarded patients in Kuwait.		309548	21487	2	2004												
139573		autism; Asperger syndrome	PSYCH	PSY	Asperger Syndrome|Autistic Disorder	X	Xq28	FRAXE	147287685	147787753		Steiner, C. E.  et al. 2003	12806492				fragile site, folic acid type, rare, fra(X)(q28)				CDC GDPinfo	2481				Arquivos de neuro-psiquiatria. 2003 Jun;61(2A):176-80	Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.		309548	21488	2	2003	Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.	Cohort 103 outpatients 										
139574		autism; Asperger syndrome	PSYCH	PSY	Asperger Syndrome|Autistic Disorder	X	Xq28	FRAXF				Steiner, C. E.  et al. 2003	12806492				fragile site, folic acid type, rare, fra(X)(q28)				CDC GDPinfo	2482				Arquivos de neuro-psiquiatria. 2003 Jun;61(2A):176-80	Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.		300031	24457	2	2003	Neuroimaging and EEG findings were non-specific and occurred in similar proportion among the groups, being considered of relative low significance in the diagnostic evaluation of individuals with pervasive developmental disorders.	Cohort 103 outpatients 										
139575		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q13	FTH1	61488332	61491708		Felletschin, B.  et al. 2003	14615048				Ferritin, heavy polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002032.2			CDC GDPinfo	2495	Hs.524910			Neuroscience letters. 2003 Nov;352(1):53-6	Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra.		134770	16774	2	2003	Although functional analysis will show, whether this sequence variation might be causative for single cases of PD, the results indicate that mutations in the ferritin genes are not a common cause for PD with increased levels of iron of the SN.	Control:186:controls;Case:186 Parkinson's disease patients, in whom an increased amount of iron of the substantia nigra (SN) was priorly identified by transcranial ultrasound										
139576		lupus erythematosus; chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Lupus Erythematosus, Systemic	21	21q21-q22.1	GABPA	26028751	26066212		Yamamoto, T.  et al. 2004	15358217			promoter	GA binding protein transcription factor, alpha subunit 60kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002040.2			CDC GDPinfo	2551	Hs.473470			Biochemical and biophysical research communications. 2004 Aug;321(1):72-9	Identification of polymorphisms in the promoter region of the human NRF2 gene.		600609	10775	2	2004	This study did not reveal a close connection between the risk of these diseases and the polymorphisms. However, available lines of evidence suggest the importance of examining the link between NRF2 polymorphisms and other oxidative stress-related diseases.	Cohort patients with systemic lupus erythematosus and patients with chronic obstructive pulmonary disease 										
139577	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Nerve Degeneration	12	12p13	GAPDH	6513917	6517797	0.01	Li Y et al 2004	15507493				glyceraldehyde-3-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814	Caucasian		KGB	2597	Hs.479728	Late onset AD		Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(44):15688-93	Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.		138400	2780	1	2004		Case:1089; Control:1196										
139578	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Nerve Degeneration	12	12p13	GAPDH	6513917	6517797		Li, Y.  et al. 2004	15507493				glyceraldehyde-3-phosphate dehydrogenase				CDC GDPinfo	2597	Hs.479728			Proceedings of the National Academy of Sciences of the United States of America. 2004 Nov;101(44):15688-93	Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family.		138400	16865	2	2004	Individually, these SNPs make differential contributions to disease risk in each of the case-control series, suggesting that variants in functionally similar genes may account for series-to-series heterogeneity of disease risk. Our observations raise the possibility that GAPD genes are AD risk factors, a hypothesis that is consistent with the role of GAPD in neuronal apoptosis.	Case:1,089 late-onset Alzheimer's disease cases from multiple:series;Control:1,196 controls from multiples series										
139579		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	8	8p21	GFRA2	21593809	21702292		Borrego, S.  et al. 2002	12490080				GDNF family receptor alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001495.4	German	Spain	CDC GDPinfo	2675	Hs.441202			Thyroid. 2002 Nov;12(11):1017-22	Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer.		601956	21511	2	2002	Our results show that no statistical signification was found when Spanish sMTC patients were compared to controls. Taken together with the observations in the German sMTC series, the present findings suggest that GFRA1-193C > G and 537T > C could be in linkage disequilibrium with other loci responsible for the disease with a founder effect in Germany. Alternatively, the combined observations might also suggest that, if indeed the polymorphisms are functional, the effect is small.	Control:100 normal controls;Case:51 Spanish sporadic medullary thyroid carcinoma:patients										
139580	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	8	8p21	GFRA2	21593809	21702292		Borrego, S.  et al. 2003	12624147				GDNF family receptor alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001495.4			CDC GDPinfo	2675	Hs.441202			Journal of medical genetics. 2003 Mar;40(3):e18	Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.		601956	21512	2	2003	Like the genes encoding the first three co-receptors of RET, no traditional germline mutations in GFRA4 were found in HSCR> Thus, non of the four co-receptor genes appear to contribute, to a significant degree, to the aetiology of HSCR, at least in the non-familial form. It is difficult to explain the lack of traditional and low penetrance sense, in the pathogenetsis of isolated and familial HSCR>	Control:115 age- and geographically-matched healthy controls;Case:72 isolated Hirshprung's disease cases southern Spain										
139581	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	20	20q13.2-q13.3	GNAS	56848189	56919645	p=0.0005	Abe M 2002	12215464	GNAS1 T393C	a common silent polymorphism (T393C) involving a change of codon 131 from ATT (Ile) to ATC (Ile).	coding sequence	GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4	>2000 Japanese individuals	Japan	KGB	2778	Hs.125898	smoking status and aging		Hypertension. 2002 Sep;40(3):261-5	Association of GNAS1 gene variant with hypertension depending on smoking status.		139320	7056	1	2002	A significant interaction between the polymorphism and aging in the pathogenesis of hypertension was also shown in nonheavy smokers. These findings may be helpful in conducting further molecular and biological studies on the relationship among cigarette smoking, the beta-AR-G(s) protein system, and hypertension.	Cohort 2000+ Japanese individuals	smoking (tobacco)									
139583		hypotension, orthostatic	OTHER	OTH	Hypotension, Orthostatic	20	20q13.2-q13.3	GNAS	56848189	56919645		Tabara, Y.  et al. 2002	11910300				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Journal of hypertension. 2002 Apr;20(4):651-6	Polymorphisms of genes encoding components of the sympathetic nervous system but not the renin-angiotensin system as risk factors for orthostatic hypotension.		139320	10834	2	2002	 These findings indicate that genes encoding sympathetic nervous components could be involved in the predisposition for orthostatic hypotension.	Cohort 415 community-dwelling individuals, who were free from any cardiovascular complications, aged 50 years or older (mean age 70.5 +/- 9 years). 										
139584	N	depression	PSYCH	PSY	Depressive Disorder, Major	20	20q13.2-q13.3	GNAS	56848189	56919645		Zill, P.  et al. 2002	12116190				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			American journal of medical genetics. 2002 Jul;114(5):530-2	Association analysis of a polymorphism in the G-protein stimulatory alpha subunit in patients with major depression.		139320	10835	2	2002	The results of our study are in concordance with recently published findings which do not support the hypothesis that the gene for the stimulatory alpha subunit of G-proteins is a major susceptibility factor in the pathophysiology of major depression.	Control:137 healthy, unrelated controls;Case:212 depressive patients	antidepressants									
139585	Y	hypertension; autonomic nervous system dysfunction	CARDIOVASCULAR	CARD		20	20q13.2-q13.3	GNAS	56848189	56919645		Yasuda, K.  et al. 2004	15479166	T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4	Japanese		CDC GDPinfo	2778	Hs.125898			Clinical and experimental pharmacology & physiology. 2004 Sep;31(9):597-601	T393C polymorphism of GNAS1 associated with the autonomic nervous system in young, healthy Japanese subjects.		139320	10836	2	2004	These observations suggest that the GNAS1 T393C polymorphism is associated with ANS activity in youth, so that it may be useful as a genetic marker for future pathogenesis of hypertension. Follow-up studies are necessary to clarify the prevalence rates of hypertension among 393T allele carriers in the present study.	Cohort 401 young healthy Japanese males 										
139586	N	hypertension; obesity	CARDIOVASCULAR	CARD	Hypertension|Obesity|Weight Loss	20	20q13.2-q13.3	GNAS	56848189	56919645		Potoczna, N.  et al. 2004	15531240				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Journal of gastrointestinal surgery. 2004 Nov;8(7):862-8; discussion 868	G protein polymorphisms do not predict weight loss and improvement of hypertension in severely obese patients.		139320	10837	2	2004	Regardless of the mechanism(s) involved for these discordant findings, GNB3 C825T, G814A, and GNAS1 T393C polymorphisms do not seem to be reliable predictors of long-term weight loss.	Cohort 347 severely obese patients (mean+/-SEM age, 42+/-1 years; 245 women and 59 men; mean+/-SEM body mass index, 43.9+/-0.3 kg/m(2)) 										
139587	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	20	20q13.2-q13.3	GNAS	56848189	56919645		Frey, U. H.  et al. 2005	15824158	T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):871-7	The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer.		139320	10838	2	2005	In conclusion, the GNAS1 T393C status associated with differential Galphas mRNA expression is a novel independent prognostic marker for clinical outcome supporting a functional role of Galphas in bladder cancer progression.	Cohort 254 patients with transitional cell carcinoma of the bladder 										
139588		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	20	20q13.2-q13.3	GNAS	56848189	56919645		Frey, U. H.  et al. 2005	16033819	T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Clinical cancer research. 2005 Jul;11(14):5071-7	GNAS1 T393C polymorphism and survival in patients with sporadic colorectal cancer.		139320	10839	2	2005	 The results support the role of the T393C polymorphism as a marker for survival in patients with colorectal cancer stages I to II and in the identification of patients who may benefit from adjuvant chemotherapy.											
139590		Albright hereditary osteodystrophy; pseudohypoparathyroidism	UNKNOWN	UNK	Fibrous Dysplasia, Polyostotic|Pseudohypoparathyroidism	20	20q13.2-q13.3	GNAS	56848189	56919645		De Sanctis, L.  et al. 2003	12621129				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Pediatric research. 2003 May;53(5):749-55	Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.		139320	16964	2	2003	Our results stress the usefulness of this approach to obtain a complete diagnosis, expand the GNAS1 mutation spectrum, and illustrate the wide mutation heterogeneity of PHP and PHP-Ia.	Cohort 43 patients with PTH resistance and/or AHO 										
139592		brain hemorrhage; cerebrovascular disease; thrombosis, deep vein	CARDIOVASCULAR	CARD	Thrombosis|Hemorrhage	20	20q13.2-q13.3	GNAS	56848189	56919645		Gonzalez-Conejero, R.  et al. 2004	15147378				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4		Mediterranean Region	CDC GDPinfo	2778	Hs.125898			British journal of haematology. 2004 Jun;125(5):621-8	Genetic variants of the extra-large stimulatory Gs protein alpha-subunit and risk of thrombotic and haemorrhagic disorders.		139320	16967	2	2004	Thus, our study suggests a minor functional role of XLalphas polymorphism in thrombotic or in haemorrhagic disorders.	Control matched controls;Case:263/195/104 consecutive patients with a first episode of primary intracerebral haemorrhage (n=263), patients with deep venous thrombosis (n=195), and patients with cerebrovascular disease (n=104)										
139593	N	diabetes, type 2; hypertension; glucose tolerance	UNKNOWN	UNK	Hypertension|Diabetes Mellitus	20	20q13.2-q13.3	GNAS	56848189	56919645		Yamamoto, M.  et al. 2004	15894831				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Hypertension research. 2004 Dec;27(12):919-24	Association of a GNAS1 gene variant with hypertension and diabetes mellitus.		139320	16968	2	2004	These results did not support the hypothesis that the interaction between the T393C polymorphism and GGT in the association with hypertension could be caused by an indirect effect of Gs proteins mediated by glucose metabolism.	Cohort 821 Japanese individuals 										
139594		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD		20	20q13.2-q13.3	GNAS	56848189	56919645		Nieminen, T.  et al. 2005	16210433				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4	Finnish		CDC GDPinfo	2778	Hs.125898			Journal of applied physiology (Bethesda, Md :  1985). 2006 Feb;100(2):507-11	Effects of polymorphisms in {beta}1-adrenoceptor and {alpha}-subunit of G-protein on heart rate and blood pressure during exercise test. The Finnish Cardiovascular Study.		139320	21527	2	2005												
139595		timolol pharmacokinetics	UNKNOWN	UNK		20	20q13.2-q13.3	GNAS	56848189	56919645			16315032				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			European journal of clinical pharmacology. 2005 Dec;61(11):811-9	Polymorphisms of genes CYP2D6, ADRB1 and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study		139320	24476	2	2005	 The CYP2D6 poor metabolisers may be more prone to systemic adverse events with aqueous timolol than extensive metabolisers. Since CYP2D6 genotyping is not routine clinical practice, using 0.1% timolol hydrogel instead of 0.5% aqueous preparation will increase patient safety.											
139596		asthma	IMMUNE	IMM	Asthma	20	20q13.2-q13.3	GNAS	56848189	56919645		Dewar, J. C.  et al. 2003	12724032				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4		Great Britain	CDC GDPinfo	2778	Hs.125898			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		139320	28047	2	2003	Review article											
139597		Atopy	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Hypersensitivity, Immediate|	4	4q28.2-q31.1 		GYPA	145136706	145281294		Gereda JE 2000	10905243	Blood group			Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3	Italian		KGB	2993	Hs.434973			Lancet. 2000 May;355(9216):1680-3			111300	7058	1	2000												
139598		normal variation	NORMALVARIATION	NV		4	4q28.2-q31.1	GYPA	145136706	145281294		Smolyanitsky AG 2003	14550622				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			KGB	2993	Hs.434973			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA~~~ HBGG~~~ D7S8~~~ GC~~~ HLA-DQA1~~~ Ig-JH~~~ D17S30~~~ ApoB and D1S80 loci in northwestern Russians.		111300	7059	1	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia										
139599		hypertension; beta-glucuronidase; anaphylactoid purpura	CARDIOVASCULAR	CARD		4	4q28.2-q31.1	GYPA	145136706	145281294		Kornienko, I. V.  et al. 2002	12165956				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3	Russian		CDC GDPinfo	2993	Hs.434973			Sudebno-meditsinskaia ekspertiza. 2002 May-Jun;45(3):20-3	[Distribution of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC locus alleles in the population of Russia]		111300	12131	2	2002	The frequency distribution of alleles of the studied panel of locuses in the mean statistical Russian population obtained in our study can be used in molecular genetic personality identification and in anthropological studies.	Cohort 391 donors (no relatives) from 63 regions of the Russian Federation Russia 										
139600		alpha-amylase	UNKNOWN	UNK		4	4q28.2-q31.1	GYPA	145136706	145281294		Baltova, S. D.   2004	15819453				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			CDC GDPinfo	2993	Hs.434973			Folia medica. 2004 ;46(3):18-22	Polymorphism of the serum alpha-amylase in the population of the South Central and South Eastern regions of Bulgaria and its relationship with the erythrocyte blood group systems ABO and MNSs.		111300	21681	2	2004	 The difference between the observed and expected phenotypes of the examined blood group systems alpha-amylase, ABO, MNSs is short of statistical significance. This indicates genetic stability of the examined blood group systems in the studied population.	Cohort individuals sampled at the Serological Laboratory of the Department of Forensic Medicine at the Medical University of Plovdiv 										
139601		Crohn's disease; asthma; malaria	IMMUNE	IMM	Malaria|Crohn Disease|Asthma|Genetic Predisposition to Disease	4	4q28.2-q31.1	GYPA	145136706	145281294		Bottini, N.  et al. 2005	15761857				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3		Italy	CDC GDPinfo	2993	Hs.434973			American journal of physical anthropology. 2005 Sep;128(1):194-8	Adaptation to past malarial endemia and susceptibility to common diseases in modern populations: a study of adenosine deaminase and MNblood group genetic polymorphisms.		111300	21682	2	2005												
139602		PAH metabolites, urinary	NORMALVARIATION	NV		4	4q28.2-q31.1	GYPA	145136706	145281294		Smolyanitsky, A. G.  et al. 2003	14550622				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3	Russian		CDC GDPinfo	2993	Hs.434973			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-J(H), D17S30, ApoB and D1S80 loci in northwestern Russians		111300	21683	2	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia 										
139603		lung function; PAH metabolites, urinary	OTHER	OTH		4	4q28.2-q31.1	GYPA	145136706	145281294		Morera, B.  et al. 2001	12189808				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			CDC GDPinfo	2993	Hs.434973			Rev Biol Trop. 2001 Sep-Dec;49(4-Mar):1253-60	Nicaraguan population data on LDLR, GYPA, D7S8, HBGG, GC and HLA-DQA1 loci		111300	21684	2	2001	Allele frequencies of the markers HLA-DQA1 and GYPA were found to be significantly different between the populations of Nicaragua and Costa Rica. Nevertheless, genetic distances showed that Nicaragua is close to other Hispanic-admixed populations like those from Argentina, Chile, Colombia, Costa Rica, and USA Hispanics. The loci set was assessed to be useful for paternity testing and individual identification in the Nicaraguan population residing in Costa Rica.	Cohort 100 unrelated Nicaraguans Costa Rica 										
139604		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		4	4q28.2-q31.1	GYPA	145136706	145281294		Chiaroni, J.  et al. 2004	15754970				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			CDC GDPinfo	2993	Hs.434973			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		111300	24578	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
139606	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	10	10q25.3	HABP2	115302774	115339348		Hoppe, B.  et al. 2004	15486068				Hyaluronan binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004132.2			CDC GDPinfo	3026	Hs.422542			Blood. 2005 Feb;105(4):1549-51	Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism.	rs7080536	603924	11001	2	2004	Logistic regression analysis confirmed FSAP Marburg I to be an independent risk factor for VTE (odds	Control:213 healthy controls;Case:213/103 patients with a history of venous thromboembolism (n=218) or idiopathic venous thromboembolism:(n=103)										
139607		cholesterol; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Cardiovascular Diseases	10	10q25.3	HABP2	115302774	115339348		Ireland, H.  et al. 2004	15543324				Hyaluronan binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004132.2		Great Britain	CDC GDPinfo	3026	Hs.422542			Thrombosis and haemostasis. 2004 Nov;92(5):986-92	The factor VII activating protease G511E (Marburg) variant and cardiovascular risk.		603924	17066	2	2004	The findings support the proposal that the FSAP 511E allele exacerbates atherosclerosis or its clinical sequelae.	Cohort individuals from the Northwick Park Heart Study II 										
139608		anemia in pregnancy	HEMATOLOGICAL	HEM	Pregnancy Complications, Hematologic|alpha-Thalassemia	16	16p13.3	HBA2	162874	167520		Diejomaoh, F. M.  et al. 2000	11154980				Hemoglobin, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI771544		Kuwait	CDC GDPinfo	3040	Hs.398636			Acta haematologica. 2000 ;104(3-Feb):92-4	Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait.		141850	17075	2	2000	alpha-thal trait affects the of anemia among pregnant Kuwaiti women,however the mean Hb was similar in heterozygotes, homozygotes and normal individuals	Control:35 control group of nonanemic (Hb >/=11 g/dl) pregnant:women;Case:59 anemic (Hb <11 g/dl) pregnant women										
139609	Y	spinal muscular atrophy phenotype	OTHER	OTH	Muscular Atrophy, Spinal	15	15q23-q24	HEXA	70422831	70455457		Navon R et al. 1995	7898712				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2			KGB	3073	Hs.513008			Neurology. 1995 Mar;45(3 Pt 1):539-43	A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.		606869	7060	1	1995												
139610	Y	Tay-Sachs disease	METABOLIC	MET	Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Richard MM et al. 1995	7551830			intron	Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2			KGB	3073	Hs.513008			Biochemical and molecular medicine. 1995 Jun;55(1):74-6	An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.		606869	7061	1	1995												
139611	Y	apparent beta-hexosaminidase A pseudodeficiency	OTHER	OTH	Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Cao Z et al. 1993	7902672				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2			KGB	3073	Hs.513008			American journal of human genetics. 1993 Dec;53(6):1198-205	A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.		606869	7062	1	1993												
139612		syndrome mimicking amyotrophic lateral sclerosis.	OTHER	OTH	Tay-Sachs Disease|Amyotrophic Lateral Sclerosis|Syndrome	15	15q23-q24	HEXA	70422831	70455457		Drory VE 2003	12811781				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2		Israel	KGB	3073	Hs.513008			Muscle & nerve. 2003 Jul;28(1):109-12	Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.		606869	7063	1	2003												
139614		Huntington's disease	NEUROLOGICAL	NEUR	Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Peleg, L.  et al. 2001	11180612	(V436I)			Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2	African American, Ethiopian Jews	Ethiopia	CDC GDPinfo	3073	Hs.513008			Human mutation. 2001 Feb;17(2):157	A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews.		606869	11016	2	2001	Analysis of polymorphic markers on autosomes, mtDNA and Y-chromosomes indicated that Ethiopians including Jews exhibit intermediate pattern of genetic variation, between Europe and sub-Saharan populations.	Cohort Ethiopian Jews Israel 										
139615		Tay-Sachs disease	METABOLIC	MET	Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Bach, G.  et al. 2001	11170098				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2	Jewish		CDC GDPinfo	3073	Hs.513008			American journal of medical genetics. 2001 Feb;99(1):70-5	Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.		606869	17124	2	2001	Our results strongly support the use of DNA testing alone as the most cost-effective and efficient approach to carrier screening for TSD in individuals of confirmed Ashkenazi Jewish ancestry	Cohort 										
139616		Sanhoff disease; Tay-Sachs disease	OTHER	OTH	Sandhoff Disease|Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Branda, K. J.  et al. 2004	15345116				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2	Jewish Americans of ancestry from Ireland, Great Britain, or Italy	United States|England|Scotland|Wales|Ireland|Italy	CDC GDPinfo	3073	Hs.513008			Genetic testing. 2004 ;8(2):174-80	Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy		606869	17125	2	2004	Individuals of Irish or Italian heritage might benefit from genetic counseling for TSD and SD, respectively.	Cohort 436 nonpregnant individuals with Italian heritage Cohort 610 nonpregnant subjects with Irish background 										
139617	N	Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Beghe B 2004	14674935				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791	toluene diisocyanate-induced asthma		Allergy. 2004 Jan;59(1):61-4	Lack of association of HLA class I genes and TNF alpha-308 polymorphism in toluene diisocyanate-induced asthma.		142840	7065	1	2004	 These results suggest that HLA class I antigens and TNF-alpha A-308G are not associated with susceptibility or resistance to the development of TDI-induced asthma.											
139618		tuberculosis	INFECTION	INF	Tuberculosis, Multidrug-Resistant|Tuberculosis, Pulmonary|Disease Susceptibility	6	6p21.3	HLA-C	31344507	31432914		Balamurugan A 2004	14976596				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791			The Journal of infectious diseases. 2004 Mar;189(5):805-11	Human leukocyte antigen class I supertypes influence susceptibility and severity of tuberculosis.		142840	7066	1	2004												
139619		psoriatic arthritis	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Zhang, H. B.  et al. 2003	15639927				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Yi chuan. 2003 Sep;25(5):549-51	[The Study of HLA-Cw Polymorphism in Uygur Population.]		142840	11075	2	2003	We have made a survey of HLA-Cw alleles frequencies in a Uygur population,with blank frequency being lowered to 0.0064.The distribution of genotype frequencies met the law of Hardy-Weinberg equilibrium by hi-square test.The frequency data can be used in forensic and paternity tests to estimate the frequency of a DNA profile in the Uygur population,transplant matching and anthropology.	Cohort 146 Uygur individuals 										
139622		leukemia	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Lu, X. Z.  et al. 2003	12870022				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese		CDC GDPinfo	3107	Hs.591791			Zhonghua shi yan he lin chuang bing du xue za zhi. 2003 Mar;17(1):62-5	[Genotyping of HLA-Cw locus in Chinese Yi ethnic group by PCR-SSP]		142840	17221	2	2003	 This study provides the data of HLA-Cw gene frequency in Chinese Yi ethnic group, which may contribute to research on anthropology, disease association and vaccine application. The result also confirmed that PCR-SSP was a reliable and fast method for HLA-Cw genotyping.	Cohort 102 unrelated healthy Chinese Yi ethnic individuals 										
139623	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		LUszczek, W.  et al. 2004	15310528				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Poland	CDC GDPinfo	3107	Hs.591791			Human immunology. 2004 Jul;65(7):758-66	Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris.		142840	17938	2	2004	This result strongly speaks for a role of KIR2DS1 on recognition of HLA-Cw6 in susceptibility to psoriasis.	Case:116 psoriasis vulgaris patients;Control:123 healthy controls										
139624		psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-C	31344507	31432914		Holm, S. J.  et al. 2005	16185272				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			The Journal of investigative dermatology. 2005 Oct;125(4):721-30	Distinct HLA-C/KIR genotype profile associates with guttate psoriasis.		142840	17939	2	2005												
139625		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Holm, S. J.  et al. 2005	15848982				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Swedish	Sweden	CDC GDPinfo	3107	Hs.591791			Acta dermato-venereologica. 2005 ;85(1):8-Feb	HLA-Cw*0602 associates more strongly to psoriasis in the Swedish population than variants of the novel 6p21.3 gene PSORS1C3.		142840	19128	2	2005												
139626	N	arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Gonzalez, S.  et al. 2002	12022360				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			The Journal of rheumatology. 2002 May;29(5):973-8	MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis.		142840	19896	2	2002	 Cw*0602 and MICA-A9 appear to be the strongest genetic susceptibility factors for PsA. However, MICA-A9 was associated independently of Cw6. HLA-B alleles and MICB-CA22 are associated secondarily to linkage with MICA. TNFA and HLA-DRB1 were not associated with PsA susceptibility, and our data suggest that their reported association may only reflect the linkage disequilibrium with MICA-A9 among the different populations studied.	Control:110 healthy controls;Case:81 Spanish patients with psoriatic arthritis										
139627		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Orru, S.  et al. 2002	12472658				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Italy	CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2002 Oct;60(4):292-8	Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).		142840	21794	2	2002	Our study showed that these CDSN haplotypes are very stable and well-conserved in the Sardinian population. The CDSN2 haplotype was found to be associated with susceptibility to psoriasis. The association did not depend upon any one of the intragenic SNPs taken separately. At the HLA-C locus, the Cw6 and Cw7 alleles were dragged along by linkage disequilibrium with the CDSN2 haplotype and only revealed a trend towards association with the disease. Therefore, the intragenic SNPs of the CDSN gene and the HLA-Cw6 and Cw7 alleles are not directly involved in susceptibility to psoriasis. However, the strong association of the CDSN2 haplotype suggests a possible role for the CDSN gene and its chromosome region in susceptibility to psoriasis.	Case psoriasis patients:Sardinia, Italy;Control:controls										
139628		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Ameen, M.  et al. 2005	15953084				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese		CDC GDPinfo	3107	Hs.591791			Clinical and experimental dermatology. 2005 Jul;30(4):414-8	Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations.		142840	21795	2	2005												
139629	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Chang, Y. T.  et al. 2004	15214895				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese	Taiwan	CDC GDPinfo	3107	Hs.591791			The British journal of dermatology. 2004 Jun;150(6):1104-11	Genetic polymorphisms of the HCR gene and a genomic segment in close proximity to HLA-C are associated with patients with psoriasis in Taiwan.		142840	21796	2	2004	 Our results indicate that the HCR gene, SNP n.7*A, and SNP n.9*C as well as Cw*0602 are major susceptibility markers for psoriasis in Chinese patients.	Control:103 control subjects;Case:115 Chinese patients with psoriasis										
139631		Sjogren's syndrome	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Street, J.  et al. 2003	12648281				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			European journal of immunogenetics. 2003 Apr;30(2):129-31	Immunogenetics of the rare HLA-B allele B*4408.		142840	21798	2	2003	The phenotype and gene frequencies of B*4408 were 0.01235% and 0.00006, respectively.	Cohort 40,473 subjects residing in Wales 										
139632		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-C	31344507	31432914		Crespi, C.  et al. 2002	12472657				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Majorcan		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2002 Oct;60(4):282-91	HLA polymorphism in a Majorcan population of Jewish descent: comparison with Majorca, Minorca, Ibiza(Balearic Islands) and other Jewish communities.		142840	21799	2	2002	The genetic diversity of the populations from Majorca and Minorca were similar and more related to the mainland Spanish population.	Cohort 103/589 random, healthy, unrelated individuals belonging to the ancient Majorcan Jewish community (n=103), and individuals from the Balearic population selected because of their typical Balearic - Majorca, Minorca or Ibiza - lineages (n=589) 										
139633		uveitis	IMMUNE	IMM	Eye Infections, Viral|HTLV-I Infections|Uveitis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Kaminagayoshi, T.  et al. 2005	16019679				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese	Japan	CDC GDPinfo	3107	Hs.591791			Ocular immunology and inflammation. 2005 Apr-Jun;13(3-Feb):199-204	Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis.		142840	21800	2	2005	 The results suggest that HLA class I and class II genes do not contribute to susceptibility to HAU.											
139634		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Jonsen, A.  et al. 2004	15535834				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		142840	24586	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
139635		psoriasis; psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Lascorz, J.  et al. 2004	15539411				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Caucasian		CDC GDPinfo	3107	Hs.591791			Annals of the rheumatic diseases. 2005 Jun;64(6):951-4	Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort.		142840	24587	2	2004	 The lack of genetic association between the most common Crohn's disease alleles of the CARD15 gene and psoriatic joint disease on large cohorts of white patients does not support a recently claimed role for CARD15 as the first non-MHC susceptibility gene in the pathogenesis of psoriatic arthritis, but confirms and extends previous studies in the case of psoriasis vulgaris.	Case:375/281 patients with psoriatic arthritis (n=375) and patients with psoriasis vulgaris without joint:involvement (n=281);Control:376:controls										
139636		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Martinez-Borra, J.  et al. 2005	16297191				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Jewish	Israel	CDC GDPinfo	3107	Hs.591791			The Journal of investigative dermatology. 2005 Nov;125(5):928-32	The Region of 150 kb Telometic to HLA-C Is Associated with Psoriasis in the Jewish Population.		142840	24588	2	2005												
139638		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Cao, K.  et al. 2001	11543903				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Human immunology. 2001 Sep;62(9):1009-30	Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations		142840	24590	2	2001	There was lack of correlation between the levels of heterozygosity and the number of alleles detected in each population.	Cohort 1296 unrelated subjects from five major outbred groups living in the U.S.A (African, AFAM; Caucasians, CAU; Asian, ORI; Hispanic, HIS, and North American Natives, NAI). US 										
139639	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-C	31344507	31432914		Zhang, X. J.  et al. 2003	14527733				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese		CDC GDPinfo	3107	Hs.591791			Journal of dermatological science. 2003 Oct;33(1):6-Jan	Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans		142840	24591	2	2003	 This study demonstrated the positive associations of HLA class I markers with psoriasis vulgaris, of which HLA-Cw*0602 was the strongest susceptibility determinant for development of early-onset psoriasis, in the southeastern Chinese Han population.	Case:166 Chinese Han patients with psoriasis vulgaris southeastern China;Control:204 healthy unrelated Hans										
139640		H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Li, Z. H.  et al. 2004	15662734				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		China	CDC GDPinfo	3107	Hs.591791			Yi chuan. 2004 Mar;26(2):143-6	[Studies of the relationship of HLA polymorphisms and the infection of H. pylori in the population of Linqu in Shandong Province]		142840	24592	2	2004												
139641		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-C	31344507	31432914		Xiao, F. L.  et al. 2005	16185849				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese		CDC GDPinfo	3107	Hs.591791			Journal of dermatological science. 2006 Feb;41(2):109-19	Association of HLA class I alleles with aloplecia areata in Chinese Hans.		142840	24593	2	2005	 This study demonstrated the positive association of HLA class I alleles and haplotypes with AA. There may be differences in genetic background in patients with different age of onset, grade of scalp hair loss, duration of current attack, a past history and a family history.											
139644		hepatitis C; hepatitis B	INFECTION	INF	Hepatitis B|Hepatitis, Viral, Human|Hepatitis A|Hepatitis C|Hepatitis D|Chronic Disease	6	6p21.3	HLA-C	31344507	31432914			15807454				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Kazakhstan|Russia	CDC GDPinfo	3107	Hs.591791			Ter Arkh. 2005 ;77(2):54-9	[Immunogenetic HLA markers of chronic viral hepatitis]		142840	24596	2	2005	 A universal role of HLA-B35 specificity in development of CVH irrespective of hepatotropic virus and patients' nationality is shown.	Cohort 179 Russian and Kazakhs patients with viral hepatitides B, C and D Astrakhan region 										
139645		leukemia	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Li, D.  et al. 2005	16129034				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Aug;13(4):563-6	[Association of gene HLA-class I with leukemia]		142840	24597	2	2005												
139646	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Bugawan, T. L.  et al. 2002	12445315				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Philippines	CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142840	24598	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
139647		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-C	31344507	31432914		Flomenberg, N.  et al. 2004	15191952				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		142840	24599	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
139648		lymphoma	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Ayed, K.  et al. 2004	15361135				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Tunisian		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		142840	24600	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
139649		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Saito, S.  et al. 2000	11169242				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		142840	24601	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
139650		pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-C	31344507	31432914		Kawa, S.  et al. 2002	11984513				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese	Japan	CDC GDPinfo	3107	Hs.591791			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		142840	24602	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)										
139651		graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-C	31344507	31432914		Shaw, B. E.  et al. 2003	12774051				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		142840	24603	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
139652		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-C	31344507	31432914		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		142840	24604	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
139653		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-C	31344507	31432914		Muro, M.  et al. 2001	11543893				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Spanish		CDC GDPinfo	3107	Hs.591791			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		142840	24605	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
139654		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Farjadian, S.  et al. 2004	15496201				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		142840	24606	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
139655		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Yang, S.  et al. 2004	15245541				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese		CDC GDPinfo	3107	Hs.591791			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		142840	24607	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
139656		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Rajalingam, R.  et al. 2002	11904677				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Caucasian		CDC GDPinfo	3107	Hs.591791			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		142840	24608	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
139657		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-C	31344507	31432914		de Pablo, R.  et al. 2000	11169240				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	South American		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2000 Dec;56(6):507-14	HLA class I and class II allele distribution in the Peruvian population.		142840	24609	2	2000	Our data are consistent with the Mestizo character of this population. In terms of genetic distance Peruvians are closest to Bolivians, which is in agreement with the geographical location and the cultural and anthropological background of the two human groups. Several HLA-B alleles originally described in genetically isolated Amerindian tribes are also present in the sample studied here. This fact and the reported finding of these alleles in several Amerindian groups suggests that they were present in the first wave of humans that populated South America (Paleoindians) before they split to give rise to the different South American tribes.	Cohort Peruvian population sample Peru 										
139658		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-C	31344507	31432914		Miyagawa, S.  et al. 2002	11841366				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese		CDC GDPinfo	3107	Hs.591791			The British journal of dermatology. 2002 Jan;146(1):52-8	Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.		142840	24610	2	2002	 These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV.	Control normal controls subjects;Case:51 Japanese patients with pemphigus										
139659		stem cell transplantation outcome	UNKNOWN	UNK	Leukemia|Lymphoma|Anemia, Aplastic|Myelodysplastic Syndromes|Genetic Diseases, Inborn|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-C	31344507	31432914		Morishima, Y.  et al. 2002	12010826				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Blood. 2002 Jun;99(11):4200-6	The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.		142840	24611	2	2002	Thus, the role of the HLA class I allele in unrelated bone marrow transplantation was elucidated. Notably, HLA-C alleles had a different mode from HLA-A or -B alleles for acute GVHD and survival.	Cohort 1298 donor-patient pairs in cases where marrow was donated from serologically HLA-A, -B, and -DR compatible donors 										
139660		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-C	31344507	31432914		Yu, M. L.  et al. 2003	12825172				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Taiwanese	Taiwan	CDC GDPinfo	3107	Hs.591791			The Journal of infectious diseases. 2003 Jul;188(1):62-5	Human leukocyte antigen class I and II alleles and response to interferon-alpha treatment, in Taiwanese patients with chronic hepatitis C virus infection.		142840	24612	2	2003	This suggests a role for a complex host-immunogenetics interplay in the response to IFN-alpha, in patients with chronic HCV infection.	Cohort 100 unrelated Taiwanese patients with chronic hepatitis C virus infection 										
139661		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-C	31344507	31432914		McKiernan, S. M.  et al. 2004	15239092				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Hepatology (Baltimore, Md). 2004 Jul;40(1):108-14	Distinct MHC class I and II alleles are associated with hepatitis C viral clearance, originating from a single source.		142840	24613	2	2004	In conclusion, certain class I alleles are associated with outcome in this homogeneous cohort. More significantly, either HLA-A*03, -DRB1*0101, or -*0401 are carried by an overwhelming majority of those subjects who successfully clear HCV.	Cohort 227 										
139662	N	lymphoma	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Maitland, K.  et al. 2004	15546341				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2004 Dec;64(6):678-86	HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia.		142840	24614	2	2004	No consistent pattern was demonstrated for any HLA locus in relation to malaria endemicity.	Cohort 367 unrelated Melanesians Vanuatu and New Caledonia 										
139663		alveolitis, extrinsic allergic	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914			16362107				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):29	[HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).]		142840	24615	2	2005												
139665		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Flores-Villanueva, P. O.  et al. 2003	12574360				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Journal of immunology (Baltimore, Md :  1950). 2003 Feb;170(4):1925-9	Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.		142840	24617	2	2003	In conclusion, our study confirms that the molecular mechanisms underlying the associations between HLA genes and AIDS disease progression are not always direct effects of HLA restriction but can also be indirect effects due to LD, or both.	Control:198 slow progressors to AIDS;Case:74 rapid progressors to AIDS:France										
139666		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	HLA-C	31344507	31432914		Pedron, B.  et al. 2003	12665835				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Bone marrow transplantation. 2003 Mar;31(6):423-7	Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation.		142840	24618	2	2003	The use of these data to delineate search strategies is discussed.	Cohort 207 stem cell transplant patients north of France 										
139667		typhoid fever	INFECTION	INF		6	6p21.3	HLA-C	31344507	31432914		Machulla, H. K.  et al. 2003	12753667				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Turkish		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2003 Apr;61(4):292-9	Genetic affinities among Mongol ethnic groups and their relationship to Turks.		142840	24619	2	2003	The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.	Cohort Khalkha, Oold and Tsaatan Turks Mongolia 										
139668		periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Stein, J.  et al. 2003	12941076				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Journal of periodontal research. 2003 Oct;38(5):508-17	Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis?		142840	24620	2	2003	 The present study elucidates the variety of HLA associations and therefore the difficulty to assign single HLA markers to periodontal disease. Susceptibility/resistance of both aggressive and chronic periodontitis may rather be influenced by particular HLA marker combinations. Associated HLA haplotypes may be of further importance for unknown gene loci representing a part of the genetic background for periodontitis. The different associations in aggressive and chronic periodontitis indicate different susceptibility/resistance factors for both diseases.	Control:102 control probands without periodontitis;Case:50/102 German Caucasian groups with generalized aggressive (N = 50) and chronic (N = 102) periodontitis										
139669		kidney transplant complications	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Rees, M. T.  et al. 2003	14551034				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Transplant immunology. 2003 Oct-Nov;12(1):73-8	HLA-A, B, C, DRB1, DQB1 matching heterogeneity in 'favourably matched' kidney recipients		142840	24621	2	2003	Considerable HLA-A, -B, -C, -DR, -DQ matching heterogeneity exists even amongst 'well matched' renal transplant patient groups. Little is known about the effects of combinations of mismatched specificities on graft survival. Thus, further investigation is merited particularly for HLA-C and -DQ mismatching.	Cohort 237 cadaveric donor/recipient pairs 										
139670		oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Chen, H. M.  et al. 2004	15061705				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Taiwanese	Taiwan	CDC GDPinfo	3107	Hs.591791			Journal of oral pathology & medicine. 2004 Apr;33(4):191-9	HLA typing in Taiwanese patients with oral submucous fibrosis.		142840	24622	2	2004	 We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF.	Case:135 Taiwanese oral submucous fibrosis patients:Taiwan;Control:540 healthy control Taiwanese										
139671		arthrofibrosis	OTHER	OTH	Joint Diseases|Knee Injuries|Genetic Predisposition to Disease|Fibrosis|Postoperative Complications	6	6p21.3	HLA-C	31344507	31432914		Skutek, M.  et al. 2004	15122136				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Germany	CDC GDPinfo	3107	Hs.591791			Arthroscopy. 2004 May;20(5):469-73	Screening for arthrofibrosis after anterior cruciate ligament reconstruction: analysis ofassociation with human leukocyte antigen.		142840	24623	2	2004	 A possible link may exist between arthrofibrosis and HLA-Cw*07- and DQB1*06-negative as well as Cw*08-positive individuals. Further investigation is necesessary to confirm or vitiate the possible association. LEVEL OF EVIDENCE: Level IV.	Cohort 17 patients with primary arthrofibrosis after autologous anterior cruciate ligament 										
139672		psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Lee, K. W.  et al. 2005	15853898				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Korean		CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2005 May;65(5):437-47	Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population.		142840	24624	2	2005	Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.	Cohort 485 apparently unrelated healthy Korean individuals Korea 										
139673		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Malkki, M.  et al. 2005	16029431				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2005 Aug;66(2):114-24	MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donorhematopoietic transplantation and disease association studies.		142840	24625	2	2005												
139674		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Lymphatic Metastasis	6	6p21.3	HLA-C	31344507	31432914			16365741				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Spanish		CDC GDPinfo	3107	Hs.591791			Immunogenetics. 2006 Jan;57(12):926-33	HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis		142840	24626	2	2005												
139675	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-C	31344507	31432914		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	German	Germany	CDC GDPinfo	3107	Hs.591791			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		142840	24627	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
139676		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-C	31344507	31432914		Wang, C.  et al. 2004	15057902				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		142840	24628	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
139677		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-C	31344507	31432914		Li, S.  et al. 2004	15009808				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		142840	24629	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
139678	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Kitawaki, J.  et al. 2002	12392856				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Human immunology. 2002 Nov;63(11):1033-8	Association of HLA class I and class II alleles with susceptibility to endometriosis		142840	24630	2	2002	Therefore, our results indicated that the HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype was associated with endometriosis susceptibility. Our findings may provide an important clue to elucidating the pathogenesis of endometriosis.	Case:123 Japanese patients with endometriosis;Control:165 healthy women										
139680	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	HLA-C	31344507	31432914		Grubic, Z.  et al. 2004	15554365				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Croatia	CDC GDPinfo	3107	Hs.591791			Reumatizam. 2004 ;51(1):11-May	[The distribution of HLA alleles class I and class II among patientes with psoriatic arthritis in Croatia]		142840	24632	2	2004	The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B* 13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients.	Cohort 58 psoriatic arthritis patients (28 male and 30 female) Croatia 										
139681		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914			16362110				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):32-3	[HLA-class I and II genotyping in sarcoidosis patients.]		142840	24633	2	2005												
139682		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Allen, M.  et al. 2005	15654960				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			The Journal of investigative dermatology. 2005 Jan;124(1):103-6	The Major Psoriasis Susceptibility Locus PSORS1 Is not a Risk Factor for Late-Onset Psoriasis		142840	26114	2	2005	These data suggest that the exclusion of LOP subjects from case-control studies will aid further delineation of the PSORS1 locus. Future genome-wide studies will be required to identify loci conferring risk for late-onset disease.	Case:145 patients with late-onset psoriasis;Control:309 normal controls										
139683		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-C	31344507	31432914		Shao, W.  et al. 2004	15304010				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		142840	26115	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
139684		maternal microchimerism	OTHER	OTH		6	6p21.3	HLA-C	31344507	31432914		Berry, S. M.  et al. 2004	15128924				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		142840	26931	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
139685	Y	delayed sleep phase syndrome.	OTHER	OTH	Sleep Disorders, Circadian Rhythm|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hohjoh H et al. 1999	10498237	HLA-A, -B and -DR			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Psychiatry and clinical neurosciences. 1999 Aug;53(4):527-9	Possible association of human leucocyte antigen DR1 with delayed sleep phase syndrome.		142857	3159	1	1999												
139687		Latex allergy	IMMUNE	IMM	Hypersensitivity	6	6p21.3	HLA-DRB1	32593131	32665559		Rihs 1997	9027975	DR4 and DQ8			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Tissue antigens. 1997 Jan;49(1):92-5			142857	3161	1	1997												
139688		Asthma. total IgE	IMMUNE	IMM	Asthma|Hypersensitivity|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Aron 1996	8842557	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 1996 Jul;26(7):821-8			142857	3162	1	1996	 We observed that HLA-DR 4 and DR7 alleles are significantly implicated in their susceptibility to the disease and suggest that this susceptibility is more related to atopy than to specific responses to allergens. According to previous studies, we could also submit that in atopic patients with asthma, DR4 alleles at the least, could be more closely associated with atopy than with asthma per se. Conversely, we suggest that some allelic DQA1 and DQB1 sequences might confer protection against the disease.											
139690		Atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate|Food Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Senechal H 1999	10452762	HLA-DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 1999 Aug;104(2 Pt 1):395-401			142857	3164	1	1999	 We conclude that the allele HLA-DR7 is significantly involved in the presentation of apple and pollen allergens. However, we suggest that this susceptibility is more related to atopy than to specific responses to allergens.											
139693		Asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Soriano 1997	9372651	DRB1*05			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Spain	KCB	3123	Hs.534322			American journal of respiratory and critical care medicine. 1997 Nov;156(5):1394-8			142857	3167	1	1997												
139694	Y	Mite-sensitive asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559	P<0.05	Lara-Marquez ML 1999	10051703	Haplotype DRB1*1101. DQA1*0501. DQB1*0301			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Venezuelan	Venezuela	KCB	3123	Hs.534322			Clinical and experimental allergy. 1999 Jan;29(1):60-71			142857	7069	1	1999	 We have identified an association between the haplotype HLA-DRB1*1101, DQA1*0501, DQB1*0301 and atopic asthma that confers susceptibility to develop mite-sensitive asthma to atopics (relative risk, RR 8.2), and to non-atopic controls (RR = 15.8) that carry this haplotype. Conversely, the allele HLA-Cw7 was absent in the asthmatics studied and had higher frequencies in the atopic (RR = 0.05) and non-atopic (RR = 0.08) controls. Thus, it may have a protective role for developing atopic asthma in the population studied.											
139696	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11069565	DRB1*3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11):1568-75			142857	7071	1	2001	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
139698	Y	SPT (cockroach)	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559	P=0.00059	Ober C 2000	10808177	DRB1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 2000 May;105(5):960-6			142857	7073	1	2000	 The DRB1*0101 allele in the Hutterites and the DRB1*0102 allele in African Americans confer risk for cockroach sensitization. Elucidating this interaction at the molecular level may allow for more targeted treatment and prevention of atopic asthma in inner-city populations.											
139699	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11069565	DRB1*9			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11):1568-75			142857	7074	1	2001	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
139701		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559		Lympany 1993	8335847	DRB1*10			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			The Journal of allergy and clinical immunology. 1993 Jul;92(1 Pt 1):114-23			142857	7076	1	1993	 We have shown, however, that there is a significant decrease in the incidence of DPB1*0401 in both aspirin-tolerant and aspirin-intolerant subjects with asthma in both populations studied.											
139702	Y	SPT (HDM)	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559	P=0.0017	Lara-Marquez ML 1999	10051703	DRB1*11			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Venezuelan	Venezuela	KGB	3123	Hs.534322			Clinical and experimental allergy. 1999 Jan;29(1):60-71			142857	7077	1	1999	 We have identified an association between the haplotype HLA-DRB1*1101, DQA1*0501, DQB1*0301 and atopic asthma that confers susceptibility to develop mite-sensitive asthma to atopics (relative risk, RR 8.2), and to non-atopic controls (RR = 15.8) that carry this haplotype. Conversely, the allele HLA-Cw7 was absent in the asthmatics studied and had higher frequencies in the atopic (RR = 0.05) and non-atopic (RR = 0.08) controls. Thus, it may have a protective role for developing atopic asthma in the population studied.											
139704		Total IgE	OTHER	OTH	Hypersensitivity, Immediate	6	6p21.3	HLA-DRB1	32593131	32665559		Ulbrecht 1997	9215252	DRB1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 1997 Jun;99(6 Pt 1):828-36			142857	7079	1	1997	 The weak associations observed after stratification for specific IgE might point to a contribution of genes in these regions to the development of allergy.											
139706	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	<0.05	Tsuchiya N et al.2001	11607787	HLA-DRB1*1501			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian	United States	Tsuchiya N	3123	Hs.534322			Genes and immunity. 2001 Oct;2(6):317-22			142857	7081	1	2001												
139707	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11069565	DRB1*7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11):1568-75			142857	7082	1	2001	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
139708	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6p21.3	HLA-DRB1	32593131	32665559	n	Torio 2000	10792423	DRB1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			European journal of immunogenetics. 2000 Apr;27(2):81-5			142857	7083	1	2000												
139710	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	HLA-DRB1	32593131	32665559	0.001	Kawasaki A et al. 2000	11196680	DRB1*0405		coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	Tsuchiya N	3123	Hs.534322			Genes and immunity. 2000 Aug;1(6):351-7			142857	7085	1	2000		Case:154; Control:265										
139711		hepatitis	IMMUNE	IMM	Hepatitis|Autoimmune Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Ota M et al. 1992	1350267				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Immunogenetics. 1992 ;36(1):49-55	A possible association between basic amino acids of position 13 of DRB1 chains and autoimmune hepatitis.		142857	7086	1	1992												
139712	N	Asthma	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11167958	DRB1*4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2001 Jan;31(1):110-5			142857	7087	1	2001	 HLA-DRB1*07 may have a susceptibility, and DRB1*04 and DRB1*14 may have a protective effect, upon the development of a sensitization to DP.											
139714	Y	SPT (cockroach)	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559	P=0.00059	Ober C 2000	10808177	DRB1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 2000 May;105(5):960-6			142857	7089	1	2000	 The DRB1*0101 allele in the Hutterites and the DRB1*0102 allele in African Americans confer risk for cockroach sensitization. Elucidating this interaction at the molecular level may allow for more targeted treatment and prevention of atopic asthma in inner-city populations.											
139715	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	0.0006	Gostout BS 2003	12648582	HLA class II DR2 1501 allele		coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KEW	3123	Hs.534322			Gynecologic oncology. 2003 Mar;88(3):326-32			142857	7090	1	2003	 We demonstrated a significant association between immune response genes and the risk of cervical cancer. Our data create a compelling argument for a gene or a cluster of genes in the HLA region of chromosome 6 that regulates host immune responses to human papillomavirus infection in a manner that results in inherited susceptibility or resistance to the transforming properties of oncogenic papillomaviruses.	Case:127; Control:175										
139717		Atopy	IMMUNE	IMM	Food Hypersensitivity	6	6p21.3	HLA-DRB1	32593131	32665559		Howell 1998	9515587	DRB1*08			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Clinical and experimental allergy. 1998 Feb;28(2):156-62			142857	7092	1	1998	 While other genetic factors may be important, results from this study indicate that HLA class II genetic polymorphism may play a role in determining susceptibility to peanut allergy.											
139719		pulmonary sarcoidosis	OTHER	OTH	Sarcoidosis, Pulmonary|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Sharma SK 2003	12600814				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		India	KGB	3123	Hs.534322			American journal of respiratory cell and molecular biology. 2003 Aug;29(2):225-31	Human leukocyte antigen-DR alleles influence the clinical course of pulmonary sarcoidosis in Asian Indians.		142857	7094	1	2003												
139720		systemic sclerosis	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Kuwana M 2003	14677183				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of rheumatology. 2003 Nov;30(11):2392-7	HLA class II alleles in systemic sclerosis patients with anti-RNA polymerase I/III antibody: associations with subunit reactivities.		142857	7095	1	2003	 Our results suggest that in patients with SSc, anti-RNAP I/III antibodies are composed of subsets defined by combinations of reactivities to individual RNAP subunits having specific HLA class II correlations.	Case:257 systemic sclerosis patients (129 Japanese and 128:Caucasians);Control:271 race-matched regional controls (138 Japanese and 133 Caucasians)										
139721		sarcoidosis	OTHER	OTH	Sarcoidosis	6	6p21.3	HLA-DRB1	32593131	32665559		Rossman MD 2003	14508706				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		United States	KGB	3123	Hs.534322			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.		142857	7096	1	2003												
139723	Y	microscopic polyangiitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tsuchiya N 2003	12858454	HLA-DRB1*0901			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	KGB	3123	Hs.534322			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 with microscopic polyangiitis.		142857	7098	1	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study										
139724	Y	pemphigus foliaceus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	several	Pavoni et al. Genes Immun. 4(2):110-116, 2003	12618858	The alleles DRB1*0101, *0102, *0103, *0404, *0406, *0410, *1406 and *1601 are significantly more frequent among patients, while DRB1*0301, *0701, *0801, *1101, *1104 and *1402 are negatively associated to EPF.	disease susceptibility / disease resistance	coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian		Maria-Luiza Petzl-Erler	3123	Hs.534322	endemic pemphigus foliaceus		Genes and immunity. 2003 Mar;4(2):110-6	DISSECTING THE ASSOCIATIONS OF ENDEMIC PEMPHIGUS FOLIACEUS.		142857	7099	1	2003		Case:128; Control:402										
139725		polymyositis and dermatomyositis.	IMMUNE	IMM	Dermatomyositis|Polymyositis	6	6p21.3	HLA-DRB1	32593131	32665559		Hassan AB 2004	15022353	DRB1*03		haplotype	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis and rheumatism. 2004 Mar;50(3):1013-5	Association of the proinflammatory haplotype (MICA5.1/TNF2/TNFa2/DRB1*03) with polymyositis and dermatomyositis.		142857	7100	1	2004												
139726		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Chromosome Deletion|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Doherty DG 1992	1350906	DRw15			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China	Y Wang	3123	Hs.534322			Arthritis and rheumatism. 1992 Jun;35(6):641-6	Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus in southern Chinese.		142857	7101	1	1992												
139727		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis	6	6p21.3	HLA-DRB1	32593131	32665559		Fronek Z 1988	2904762				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			The American journal of medicine. 1988 Dec;85(6A):42-4	Major histocompatibility complex associations with systemic lupus erythematosus.		142857	7102	1	1988												
139728		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Fronek Z 1990	1977392				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		Y Wang	3123	Hs.534322			Arthritis and rheumatism. 1990 Oct;33(10):1542-53	Major histocompatibility complex genes and susceptibility to systemic lupus erythematosus.		142857	7103	1	1990												
139731	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Cox NJ 1989	2565838				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			Diabetes. 1989 May;38(5):653-8	Linkage studies on NIDDM and the insulin and insulin-receptor genes.		142857	7106	1	1989	We conclude that  the INS and INSR loci can be ruled out as major susceptibility loci for NIDDM in most Black families segregating this disorder, but we recognize that defects at either of these loci may cause or contribute to NIDDM in some patients. In addition, it is possible that variation at the INS and/or INSR loci may contribute to NIDDM susceptibility by modifying susceptibility due primarily to another major gene(s) or as part of an overall polygenic component to NIDDM.											
139732		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Deng GY 2004	7847389				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		Y Wang	3123	Hs.534322			American journal of human genetics. 1995 Feb;56(2):528-34	Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.		142857	7107	1	2004												
139733		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Ding H 2004	11601002				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			Zhonghua yi xue za zhi. 1999 Jan;79(1):28-30	[Relationship of polymorphism of LMP2 gene to insulin-dependent diabetes mellitus and DR3 gene]		142857	7108	1	2004	 There may be a significant association of LMP2-R/H and LMP2-R/R with the susceptibility to IDDM. The LMP2-R/H is a susceptible gene. The people with LMP2-R/H have a higher risk of suffering from IDDM. The LMP2-R/R is a protective gene. The people with LMP2-R/R have a decreased risk of suffering from IDDM. The effects of LMP2 on ID-DM are not affected by DR3 gene.											
139734		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559		Choi JH 2004	15007363				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 2004 Mar;113(3):562-4	HLA association in aspirin-intolerant asthma: DPB1*0301 as a strong marker in a Korean population.		142857	7109	1	2004												
139735		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang J 1996	9275640				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	Y Wang	3123	Hs.534322			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1996 Jan;35(1):19-22	Study on some susceptible genes of systemic lupus erythematosus in Han nationality of China		142857	7110	1	1996												
139736		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang J 1997	11324494				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China	Y Wang	3123	Hs.534322			Chinese medical sciences journal. 1997 Jun;12(2):107-10	The polymorphisms of HLA-DR and TNF B loci in northern Chinese Han nationality and susceptibility to systemic lupus erythematosus.		142857	7111	1	1997		Case:51; Control:106										
139738		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		van der Linden MW 2001	11704803				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		Y Wang	3123	Hs.534322			Genes and immunity. 2001 Nov;2(7):373-80	Six microsatellite markers on the short arm of chromosome 6 in relation to HLA-DR3 and TNF-308A in systemic lupus erythematosus.		142857	7113	1	2001		Case:91; Control:253										
139739		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Wang C 2004	15057902	HLA-DRB1*07			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	American		KGB	3123	Hs.534322			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		142857	7114	1	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products										
139741		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Reveille JD 1989	2572225				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		United States	Y Wang	3123	Hs.534322			Arthritis and rheumatism. 1989 Oct;32(10):1243-51	DNA analysis of HLA-DR and DQ genes in American blacks with systemic lupus erythematosus.		142857	7116	1	1989												
139742		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rood MJ 2000	10643708				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		Y Wang	3123	Hs.534322			Arthritis and rheumatism. 2000 Jan;43(1):129-34	TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus.		142857	7117	1	2000	 TNF-308A and HLA-DR3 alleles are independent susceptibility factors for SLE.											
139744		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Thomson G 2004	2567257	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			Genetic epidemiology. 1989 ;6(1):155-60	HLA and insulin gene associations with IDDM		142857	7119	1	2004												
139745		rheumatic diseases	IMMUNE	IMM	Temporomandibular Joint Disorders|Arthritis, Rheumatoid|Spondylitis, Ankylosing|Salivary Gland Diseases|Connective Tissue Diseases|Rheumatic Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Helenius LM 2004	15124939				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Finland	KGB	3123	Hs.534322			Scandinavian journal of rheumatology. 2004 ;33(1):24-9	HLA-DRB1* alleles and temporomandibular joint erosion in patients with various rheumatic diseases.		142857	7120	1	2004	 HLA antigens are significantly associated with the development of destructive lesions in the TMJ, as well as composition of saliva in patients with various rheumatic diseases.											
139747		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kochi Y 2004	14730600				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	KGB	3123	Hs.534322			Arthritis and rheumatism. 2004 Jan;50(1):63-71	Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences.		142857	7122	1	2004	 These findings suggest that 1 or more other loci besides the HLA-DRB1 or other DRB1 (non-shared epitope, non-*0901) alleles are involved in RA susceptibility/protection.	Control:1,032:controls;Case:828 patients with rheumatoid arthritis										
139748		Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Oksenberg JR 2004	14669136	HLA-DRB1*15			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African Americans	United States	KGB	3123	Hs.534322			American journal of human genetics. 2004 Jan;74(1):160-7	Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.		142857	7123	1	2004	This finding is unlikely to be solely explained by admixture, since a substantial proportion of the susceptibility chromosomes from African American patients with MS displayed haplotypes consistent with an African origin.	Case African American multiple sclerosis patients;Control:controls										
139749		Kaposi's sarcoma	CANCER	CAN	AIDS-Related Opportunistic Infections|Sarcoma, Kaposi	6	6p21.3	HLA-DRB1	32593131	32665559		Gaya A 2004	15075536	position 13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322	HIV		AIDS (London, England). 2004 Jan;18(2):199-204	Amino acid residue at position 13 in HLA-DR beta chain plays a critical role in the development of Kaposi's sarcoma in AIDS patients.		142857	7124	1	2004	 These observations suggest a possible role for HLA-DRB1 in the development of KS in HHV-8 infected individuals with HIV co-infection. Progression to KS in HHV-8 infected AIDS patients may also depend on host factors controlling the immune response.											
139750		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gorman JD 2004	14872482				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis and rheumatism. 2004 Feb;50(2):400-12	Impact of shared epitope genotype and ethnicity on erosive disease: a meta-analysis of 3,240 rheumatoid arthritis patients.		142857	7125	1	2004	 The SE is associated with the development of erosive disease in many ethnic groups; however, striking exceptions exist. These variations may be due to allele differences between populations, such as the frequency of DRB1*0401 among different ethnic groups. Further study to better understand the genetic and environmental differences between these populations may provide insight into mechanisms that influence the clinical expression of RA.											
139751		rheumatoid arthritis	IMMUNE	IMM	Rheumatoid Nodule	6	6p21.3	HLA-DRB1	32593131	32665559		Gorman JD 2004	15022316				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	caucasian		KGB	3123	Hs.534322			Arthritis and rheumatism. 2004 Mar;50(3):753-62	Lack of association of the HLA-DRB1 shared epitope with rheumatoid nodules: an individual patient data meta-analysis of 3,272 Caucasian patients with rheumatoid arthritis.		142857	7126	1	2004	 The presence of the HLA-DRB1 SE does not appear to significantly increase the risk of rheumatoid nodules among Caucasian patients with RA. Analysis by DRB1 SE genotype was uninformative, suggesting only a potential (and at most modest) role of the DRB1*0401 SE allele. Results from this IPD meta-analysis implicate other genetic, stochastic, and/or environmental factors in the susceptibility to rheumatoid nodules.											
139752	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Tian, W.  et al. 2000	12212234				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDPinfo	3123	Hs.534322			Hunan yi ke da xue xue bao. 2000 Feb;25(1):15-7	[Correlative study on HLA-DR2 allelic polymorphism and systemic lupus erythematosus in the Han nationality in Hunan province]		142857	11256	2	2000	The results were that HLA-DR2 was strongly correlated with SLE (RR = 2.71, P < 0.01); and HLA-DRB1 * 1501 was the allele correlated with disease (RR = 3.01, Pc < 0.05). In addition, PCR/SSCP showed that there was not any novel sequence variation in exon 2 of HLA-DR2 alleles in the Han nationality in Hunan province.	Case:58 systemic lupus erythematosus (SLE) patients Hunan province, China;Control:59 normal controls										
139753		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Baldassarre, L. A.  et al. 2003	12694574				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African American		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Mar;61(3):249-52	Limited diversity of HLA-DRB1*02 alleles and DRB1-DRB5 haplotype associations in four United States population groups.		142857	11258	2	2003	A total of five of 23 known DRB1*02 alleles were detected. DRB1*15011 was the predominant DRB1*02 allele in Caucasoids and Hispanics. The most common DRB1*02 allele observed in African Americans was DRB1*1503, and DRB1*15021 in Asians/Pacific Islanders. Caucasoids were found to be the least diversified; only DRB1*15011 and DRB1*16011 were observed. A subset of individuals was also typed for DRB5 alleles by DNA sequencing. DRB5*01011, DRB5*0102, DRB5*0103, DRB5*0108N and DRB5*0202 were detected and nine DRB1-DRB5 haplotypes defined.	Cohort Caucasoids, African Americans, Asians/Pacific Islanders, and Hispanics randomly selected from a database of 82,979 individuals 										
139754	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	6	6p21.3	HLA-DRB1	32593131	32665559		Yang, L.  et al. 1999	12764804				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDPinfo	3123	Hs.534322			Zhonghua er bi yan hou ke za zhi. 1999 Jun;34(3):147-9	[Analysis of HLA-DRB1 allele polymorphism for patients with allergic rhinitis]		142857	11259	2	1999	 AR was associated with HLA-DRB1 * 0101.2 and DRB1 * 0302 alleles.	Case:35 patients with allergic rhinitis;Control:94 healthy controls										
139755		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Jiao, J.  et al. 2003	14572343				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua gan zang bing za zhi. 2003 Oct;11(10):620-2	[Effects of HCV genotypes and HLA-DRB alleles on the response of chronic hepatitis C patients to interferon alpha and libavilin]		142857	11261	2	2003	 Not only virus but also host playes an important role in the curative effect of anti-virus therapy. It is necessary to view from the angle of host, adjusting the host's immune status to accelerate the clearance of HCV.	Cohort 113 patients with chronic hepatitis C 										
139756	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Mok, J. W.  et al. 2003	14630402				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Dec;64(12):1190-4	Association of MICA polymorphism with rheumatoid arthritis patients in Koreans		142857	11262	2	2003	In Korean patients, HLA-DRB1*0405 was primarily associated with RA and the weak association of RA with MICA*A4 was secondary to that with HLA-DRB1*0405. Additionally, MICA*A9 might have a weak protective effect on the susceptibility to RA in Koreans.	Case:144 Korean patients with rheumatoid arthritis patients;Control:297 unrelated healthy controls		HLA-DRB1	405	MICA	A4	MICA	A9	Y		Rhuematoid Arthritis. MICA*A9 might have a weak protective effect on the susceptibility to RA in Koreans
139757		rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559			15065436				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Genetika. 2004 Feb;40(2):267-71	[Analysis of polymorphism of the HLA-DRB1 gene in populations from the Volga-Ural region]		142857	11263	2	2004	In general, the pattern of DRB1 allelic polymorphism in populations of the Volga-Ural region, occupying the intermediate position between the Caucasoid- and Mongoloid-specific allelic frequency distribution patterns, was consistent with their anthropological type rather than with their linguistic affiliation.	Cohort individuals from six Turkic (Bashkirs, Tatars, and Chuvashes) and Finno-Ugric (Udmurts, Maris, and Komis) populations Volga-Ural region 										
139758	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6p21.3	HLA-DRB1	32593131	32665559		Shao, J.  et al. 2004	15192840				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):286-7	[Alleles of HLA class II DRB1 of patients with essential hypertension in Yunnan Hans]		142857	11264	2	2004	 HLA-DRB1*1501/2 is associated with the susceptibility to essential hypertension in the Yunnan Hans of China. DRB1*0901 may protect one from the disease.	Case:83 Chinese Han patients with essential hypertension Yunnan province, China;Control:91 healthy controls										
139759		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Yan, W. Y.  et al. 2004	15228652				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Jun;12(3):287-90	[Distribution features of HLA-DRB1 allele frequencies in normal cord blood donors of 3 438 Shandong Hans]		142857	11265	2	2004	In conclusion, a patient of Han Chinese is easier to search a DR-matched cord blood donor in Shandong Umbilical Cord Blood Bank, especially from northern Hans. No DRB1 allele is unique to single racial group and majority of DRB1 low-resolution phenotypes are common to all studied groups. It is reasonable for some patients from other races including Caucasian and Japanese to receive a transplant of cord blood stem cell matched with HLA-DR in Shandong Umbilical Cord Blood Bank.	Cohort 3,438 Shandong Hans donors China 										
139760	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang, S. J.  et al. 2004	15269854				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Shanghai kou qiang yi xue. 2004 Jun;13(3):182-5	[Association of HLA-DRB1*1501 polymorphism with the susceptibility to severe chronic periodontitis in Chinese Han nationality]		142857	11266	2	2004	 The results suggest that HLA-DRB1*1501 allele may be a risk indicator for the susceptibility to severe CP in Han nationality (P<0.05). The HLA-DRB1*1501 homozygote genotype was associated significantly with severe CP (P<0.05).	Case:134 Chinese Han subjects with severe chronic:periodontitis;Control:81 periodontal healthy controls										
139761		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Kang, L. L.  et al. 2005	15898419				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhong nan da xue xue bao Yi xue ban. 2005 Apr;30(2):135-9	[Determination of HLA-DRB1 gene polymorphism in Luoba ethnic group of Tibet]		142857	11267	2	2005	 The HLA-DRBI gene frequency of Luoba individuals in Tibet Linzhi had some differences compared with that of other Chinese population. The kindred relation between Luoba and Tibetan was closer than that with other population, which was coincident with the results of ethnology, history and sociology.	Cohort 92 Luoba ethnic group individuals Tibet 										
139762		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Jia, Z. J.  et al. 2002	16118124				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Yi chuan. 2002 Mar;24(2):131-6	[Determination of HLA-DRB1 gene polymorphism by PCR-SBT in Lahu ethnic group of Yunnan, China]		142857	11268	2	2002												
139763		systemic lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Song, E. Y.  et al. 2004	15041167				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Mar;65(3):270-6	HLA-DRB1 and -DRB3 allele frequencies and haplotypic associations in Koreans		142857	11269	2	2004	Comparison with other ethnic groups revealed that DRB1*0301 and *1301 related DRB1-DRB3 haplotypes vary among different populations, in that Koreans and other Asian populations show less diversity compared with Caucasoids or African Americans.	Cohort 6,000 Koreans Cohort 800 Koreans 										
139765		rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	6	6p21.3	HLA-DRB1	32593131	32665559		Xing, Z.  et al. 2001	12541760				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Lin chuang er bi yan hou ke za zhi. 2001 May;15(5):199-201	[Linkage of allergic rhinitis with HLA-DRB alleles polymorphism]		142857	11274	2	2001	 HLA-DRB1 * 0301.2 and HLA-DRB4 * 0101 alleles might confer protection against AR.	Case:41 allergic rhinitis patients;Control:41 healthy controls										
139766		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kuroki, K.  et al. 2005	16014635				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human molecular genetics. 2005 Aug;14(16):2469-80	Extensive polymorphisms of LILRB1 (ILT2, LIR1) and their association with HLA-DRB1 shared epitope negative rheumatoid arthritis.		142857	12173	2	2005				LILRB1		HLA	DRB1 SE negative			Y		systemic lupus erythematosus
139767	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Constantin, A.  et al. 2002	11824952				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2002 Jan;29(1):15-20	Collagenase-1 (MMP-1) and HLA-DRB1 gene polymorphisms in rheumatoid arthritis: aprospective longitudinal study.		142857	12395	2	2002	 Our results do not support the hypothesis of an association between this particular polymorphism in the MMP-1 gene promoter and susceptibility to, or severity of, RA. This study confirms the previous reports of an association between the HLA-DRB1 gene polymorphism and severity of RA.	Case:103 patients with early rheumatoid arthritis;Control:133 healthy individuals										
139768		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Constantin, A.  et al. 2002	12124858				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2002 Jul;46(7):1754-62	Stromelysin 1 (matrix metalloproteinase 3) and HLA-DRB1 gene polymorphisms: Association withseverity and progression of rheumatoid arthritis in a prospective study.		142857	12448	2	2002	 This study provides the first evidence of an association between a polymorphism in the MMP-3 gene promoter and the severity and progression of RA, but not RA susceptibility. Investigation of this polymorphism could be combined with that of DRB1 gene polymorphism to improve the predictive accuracy and management strategy in early RA.	Case:103 Patients with early rheumatoid arthritis;Control:127 healthy unrelated individuals		HLA-DRB123		MMP3				Y		Rhuematoid Arthritis
139769	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		de la Concha, E. G.  et al. 2000	11113070				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gastroenterology. 2000 Dec;119(6):1491-5	Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL.		142857	12693	2	2000	 HLA-DRB1(*)0103 is associated with susceptibility to ulcerative colitis, and IKBL+738(C) marks a propensity to extensive and more severe disease.			HLA-DRB1	103	IKBL	+738(C)			N		ulcerative colitis
139770		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bugeja, M. J.  et al. 2005	15856071			promoter	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Australian	Australia	CDC GDPinfo	3123	Hs.534322			European journal of human genetics. 2005 Jul;13(7):815-22	An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients.		142857	12725	2	2005	Nonetheless, despite the lack of significant evidence of association for the NOS2A promoter polymorphisms with MS, the gene remains an interesting candidate for MS susceptibility, particularly with regard to the HLA-DRB1(*)1501 haplotype.	Control:100:controls;Case:100 Australian multiple sclerosis patients										
139771		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang, S. L.  et al. 2002	12047361				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		France	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2002 Jun;29(3):241-9	TAP1 and TAP2 gene polymorphism in rheumatoid arthritis in a population in eastern France.		142857	14143	2	2002	Examination of TAP1 and TAP2 gene polymorphisms in RA patients revealed an association between a particular amino acid residue, namely Thr565 in the TAP2 gene, and RA. This association was found to be weak and did not seem to be a predictor for the severity of the disease.	Control:100 healthy controls;Case:138 Caucasian rheumatoid arthritis patients eastern France										
139772		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Konenkov, V. I.  et al. 2001	12687213				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		142857	14150	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
139773		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Kanagawa, S.  et al. 2003	12729048				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Lupus. 2003 ;12(4):258-65	Association of the TAP2*Bky2 allele with presence of SS-A/Ro and other autoantibodies in Japanese patients with systemic lupus erythematosus.		142857	14151	2	2003	The association of TAP2*Bky2 was found with the antibody production to both 60 and 52kDa SS-A/Ro antigens. As TAP2*Bky2 had a strong linkage disequilibrium with DRB1*08032, TAP2*Bky2 or its haplotype with DRB1*08032 may be involved in SS-A/Ro antibody production not only in SS but also SLE patients, indicating that TAP2*Bky2 may be a susceptible gene not only to the disease of SS but also to the SS-A/Ro autoantibody production.	Control healthy control subjects;Case:114 Japanese systemi lupus erythematosus patients										
139774	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yu, M. C.  et al. 2004	14749980				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	Taiwan	CDC GDPinfo	3123	Hs.534322			Clinical rheumatology. 2004 Feb;23(1):35-9	Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis.		142857	14155	2	2004	We concluded that the TAP2 gene codon 565 'A' allele was associated with RA in Chinese patients in Taiwan. Individuals possessing the 'A' allele had a higher incidence of RA. A lack of association of TAP1 gene polymorphisms between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that TAP2 gene codon 565 polymorphism may play a role in RA.	Case:100 rheumatoid arthritis patients;Control:99 healthy controls										
139775	Y	recurrent respiratory papillomatosis	UNKNOWN	UNK	Papillomavirus Infections|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Vambutas, A.  et al. 2004	14976605				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2004 Mar;189(5):871-9	Polymorphism of transporter associated with antigen presentation 1 as a potential determinant for severity of disease in recurrent respiratory papillomatosis caused by human papillomavirus types 6 and 11.		142857	14156	2	2004	Therefore, severity of disease in a patient with RRP might be determined by sequencing TAP1, in conjunction with HLA class II genes.	Cohort patients with recurrent respiratory papillomatosis 										
139776	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mattey, D. L.  et al. 2001	11791643				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Clinical and experimental rheumatology. 2001 Nov-Dec;19(6):703-8	Influence of HLA-DRB1 and TNF microsatellite polymorphisms on the expression of extraarticular manifestations in rheumatoid arthritis patients from northwest Spain.		142857	14376	2	2001	 In an RA population from NW Spain the frequencies of HLA-DRB1 and TNF microsatellite alleles in patients with extra-articular manifestations were not significantly different to those without extraarticular disease, although there was a trend towards increased frequency of HLA-DRB1*0101 in patients with nodular disease. There was no evidence for an interaction between HLA-DRB1 and TNF alleles in relation to the expression of EAM.	Control:145 healthy controls;Case:181 clinic-based rheumatoid arthritis patients northwest Spain										
139778	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Xiao, Y.  et al. 1999	11798718				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1999 Nov;38(11):757-9	[Extensive HLA class II studies in Chinese narcoleptic patients]		142857	17455	2	1999	 These results indicate that HLA-DRB1 * 1501 is a better primary candidate susceptibility gene for narcolepsy in Chinese.	Case:10 narcoleptic patients;Control:50 race matched controls										
139779	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DRB1	32593131	32665559		Wang, J.  et al. 2001	11802982				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDPinfo	3123	Hs.534322			Zhonghua jie he he hu xi za zhi. 2001 May;24(5):302-5	[Association of HLA-DRB1 genes with pulmonary tuberculosis]		142857	17456	2	2001	 These results show that HLA-DRB1 * 15 allele is susceptible gene in PTB, DRB1 * 11 may be a protective allele, HLA-DRB1 * 15 allele may be related to patients with refractory PTB.	Case:74 pulmonary tuberculosis patients;Control:90 healthy contols										
139780	Y	Addison's disease	IMMUNE	IMM	Addison Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Park, Y. S.  et al. 2002	12392510				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Aug;60(2):155-63	Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease		142857	17460	2	2002	Susceptibility to Addison's disease is influenced by the genes around MICA and D6S273 for both the HLA DR3-DQ2 and DR4-DQ8 haplotypes.	Case:57 Caucasian patients with Addison's disease;Control:72/105 general population controls (n=72) and child controls carrying Addison's disease high-risk DR3-DQ2/DR4-DQ8 genotypes (n=105)		MICA		HLA DR3-DQ2		HLA DR4-DQ8		Y		
139781		cardiomyopathy	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DRB1	32593131	32665559		Xiao, J. Q.  et al. 2003	12820921				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue za zhi. 2003 Mar;83(5):417-20	[Genotyping of HLA-DRB by oligonucleotide arrays in Han populations in southern China]		142857	17462	2	2003	 The HLA-DRB oligoneucleotide array technique is a precise, rapid molecular method for HLA-DRB genotyping. Compared with PCR-SSP method, the genotyping chip is more sensitive and specific and can test several samples at a time.	Cohort 110 samples of DNA of the lymphocytes from the spleens or peripheral blood of kidney recipients and unrelated donors 										
139782	Y	Vogt-Koyanagi-Harada syndrome	UNKNOWN	UNK	Uveomeningoencephalitic Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang, M.  et al. 2000	12903490				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2000 Feb;22(1):36-40	[Association of HLA-DRB genes with Vogt-Koyanagi-Harada syndrome in a Chinese Han population]		142857	17463	2	2000	 (1) DRB1 * 0405 and DRB1 * 15 are closely associated with the susceptibility to VKH syndrome, DRB1 * 0405 may be the major susceptible gene and DRB1 * 15 may be the minor; (2) DRB1 * 14 and DRB1 * 08 are negatively associated with the susceptibility to VKH syndrome, suggesting that they may be the resistant genes; (3) DRB1 * 0405 is not related to the clinical features, incidence of ocular complications as well as visual prognosis.	Case Vogt-Koyanagi-Harada syndrome cases;Control normal controls										
139783		cardiomyopathy	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DRB1	32593131	32665559		Hong, K. X.  et al. 2002	12905660				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2002 Aug;24(4):389-92	[Genotyping of HLA-DRB1 by PCR-SSP in Yunnan Lahu ethnic groups]		142857	17464	2	2002	 This study has obtained a more comprehensive and accurate data set of the normal allele frequencies of HLA-DRB1 in Chinese Lahu population in Yunnan Province, which may be of significance in the studies on population genetics and disease association.	Cohort 110 unrelated healthy Lahu minority people Yunan Province 										
139784	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Li, C. F.  et al. 2003	14748996				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China	CDC GDPinfo	3123	Hs.534322			Zhonghua er ke za zhi Chinese journal of pediatrics. 2003 Jun;41(6):422-5	[Association of HLA-A, B, and DR haplotypes with genotype in Chinese children with systemic lupus erythematosus]		142857	17465	2	2003	 These findings suggested that haplotype HLA-A9B40DRB1 * 15 and genotypes HLA-DRB1 * 09/DRB1 * 15, HLA-DRB1 * 03/DRB1 * 15 were correlated with SLE. The predisposition of multiple loci seems to have an additive effect. The children with their gene HLA-DRB1 * 15 derived from their fathers might more easily suffer from SLE than those with the gene derived from their mothers, the underlying mechanism needs further studies.	Case:53/40/35/27 patients with SLE (n=53) and cases with their parents (n=40), patients with SLE (n=35) and HLA-DRB * 15 positive and cases with their parents:(n=27);Control:78/43 normal controls (n=78) and cases with their parents:(n=43)										
139785	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Liu, Z. H.  et al. 2004	15256088				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua jie he he hu xi za zhi. 2004 Jun;27(6):390-3	[A study on the correlation between HLA-DR genes and susceptibility to pulmonary tuberculosis in a population of Han nationality from southern China]		142857	17466	2	2004	 The results suggest that DR16 allele is closely correlated to incidence of pulmonary tuberculosis in this population of Han nationality from southern China, or linked to susceptible genes which are functional. It is also suggested that expression of DR1 and DR13.3 alleles may be associated with an antagonist effect in the pathogenesis of pulmonary tuberculosis in this population.	Control:101:controls;Case:110 tuberculosis cases southern China										
139786	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bogunia-Kubik, K.  et al. 2001	11169267				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Jan;57(1):87-90	HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis.		142857	17468	2	2001	An analysis of DRB1 and DRB3 associations in variants of sarcoidosis revealed that DRB1*03 and DRB3*0101 were associated with Lofgren's syndrome in a combined association fashion. Conversely, a lack of DRB1*11 and/or DRB1*12 but not DRB3*0201/2 favored the clinical course of sarcoidosis.	Case sarcoidosis patients;Control normal controls										
139787		psoriasis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Tang, T. F.  et al. 2002	11872240				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Mar;63(3):221-8	DRB1*03 diversity and DRB3 associations in five major population groups in the United States.		142857	17470	2	2002	A total of six DRB1*03 alleles out of 21 known alleles were detected. DRB1*03011 was the predominant DRB1*03 allele in all populations.	Cohort 161 DRB1*03 positive individuals from each of five U.S. population groups (Caucasoids, African Americans, Asians/Pacific Islanders, Hispanics, and Native Americans) were randomly selected from a database of 82,979 individuals 										
139788		psoriasis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Gans, C. P.  et al. 2002	12144619				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):364-9	DRB1*14 diversity and DRB3 associations in four major population groups in the United States.		142857	17471	2	2002	This study completes the exon 2 sequences of previously identified alleles, DRB1*1405-*1408, including the identification of two silent codon 90 variants of DRB1*1407. In addition, two new DRB1*14 alleles, DRB1*1441 and DRB1*1442, are described.	Cohort 82,979 individuals randomly selected from each of four U.S. population groups, Caucasoids, African Americans, Asians/Pacific Islanders, and Hispanics US 										
139789		psoriasis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Casamitjana, N.  et al. 2005	15620466				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Jan;66(1):85-91	Development of a new HLA-DRB real-time PCR typing method.		142857	17475	2	2005	Identical results were obtained with all samples. This new method also reduced ambiguous results and was faster and less cumbersome than currently used PCR-SSP or PCR-SSO techniques.	Cohort 200 clinical samples previously typed for HLA-DRB using standard PCR-based method 										
139790		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Leukemia, Lymphocytic, Acute, L2|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Dorak, M. T.  et al. 2002	12008082				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Leukemia research. 2002 Jul;26(7):651-6	A male-specific increase in the HLA-DRB4 (DR53) frequency in high-risk and relapsed childhood ALL.		142857	17478	2	2002	These results further suggest that the HLA system is one of the components of genetic susceptibility to leukemia but mainly in childhood and in boys only.	Case:212 high-risk or relapsed patients with childhood (n=114) and adult (n=98) ALL;Control:250 healthy controls (118 children, 132 adult)										
139791		vitiligo	IMMUNE	IMM	Nevus, Pigmented|Vitiligo	6	6p21.3	HLA-DRB1	32593131	32665559		De Vijlder, H. C.  et al. 2004	15140072				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Netherlands	CDC GDPinfo	3123	Hs.534322			Pigment cell research. 2004 Jun;17(3):270-4	Difference in pathogenesis between vitiligo vulgaris and halo nevi associated with vitiligo is supported by an HLA association study.		142857	17484	2	2004	In conclusion, the differences in HLA association within clinical subtypes of vitiligo support our suggestion that vitiligo vulgaris and halo nevi associated with vitiligo have distinct pathogenic mechanisms.	Control:2,400 Dutch blood donors;Case:76 unrelated Dutch Caucasians, 40 with vitiligo vulgaris and 36 with halo nevi associated with:vitiligo										
139792	Y	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yoshizawa, K.  et al. 2005	15763345				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Journal of hepatology. 2005 Apr;42(4):578-84	Genetic analysis of the HLA region of Japanese patients with type 1 autoimmune hepatitis.		142857	17485	2	2005	 The most influential gene on type 1 AIH pathogenesis in Japanese is the HLA-DRB1. Other genes in the HLA region, including TNF-alpha, have little or no association with type 1 AIH susceptibility.											
139793	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Wysoczanska, B.  et al. 2004	15019280				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunology letters. 2004 Feb;91(3-Feb):127-31	Combined association between IFN-gamma 3,3 homozygosity and DRB1*03 in L????fgren's syndrome patients.		142857	17646	2	2004	no conclusion stated	Control:controls;Case:43 sarcoidosis patients										
139794	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Amoli, M. M.  et al. 2004	15570643				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2004 Dec;31(12):2413-7	Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis.		142857	17650	2	2004	 Our results suggest an association with IL-4 gene polymorphism that is dependent on HLA-DRB1 genotype in GCA susceptible individuals. These data indicate an interaction between HLA-DRB1 and IL-4 that contributes to pronounced disease susceptibility.	Control:102 ethnically matched controls;Case:82 patients with biopsy proven giant cell arteritis Lugo region, Northwest Spain		HLA-DRB1		IL-4				Y		giant cell arteritis
139795	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Guerini, F. R.  et al. 2003	12939427				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Russian	Russia|Italy	CDC GDPinfo	3123	Hs.534322			Neurology. 2003 Aug;61(4):520-6	Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians.		142857	18167	2	2003	 Polymorphism of the MBP or another gene in its vicinity appears to contribute to the etiology of MS for the subgroups of DR4- and DR5-positive Italians and Russians.	Case:269 unrelated patients with definite multiple sclerosis Italy and Russia;Control:385 unrelated healthy control subjects										
139796	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559			14714495				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Russia	CDC GDPinfo	3123	Hs.534322			Molekuliarnaia biologiia. 2003 Nov-Dec;37(6):999-1006	[In Process Citation]		142857	18168	2	2003	The results obtained are in favor of the genetic heterogeneity of multiple sclerosis, and suggest the possibility of epistatic interactions between the MBP and DRB1 genes.	Case:126 patients with reliable multiple sclerosis Central Russia;Control:142 healthy controls										
139797	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dorr, S.  et al. 2004	15142265				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis research & therapy. 2004 ;6(3):R199-207	Association of a specific haplotype across the genes MMP1 and MMP3 with radiographic joint destruction in rheumatoid arthritis.		142857	18305	2	2004	Our findings suggest that there are haplotypes in a MMP cluster region that modify the joint destruction in RA in a phasic manner.	Control:110:controls;Case:308 rheumatoid arthritis patients		MMP1		MMP3				Y		Strongly associated with the progression of joint damage in Rheumatoid Arthritis
139798	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559			16385499				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2006 Jan;54(1):82-9	Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis		142857	19188	2	2005	 Allelic variants encoding the binding pocket for peptide presentation (SE) to T cells and a functional domain of a negative regulator of T cell receptor signaling (PTPN22*620W), respectively, synergize in early RA to break self tolerance toward C1(III), an evolutionarily conserved cartilage determinant that is also frequently targeted in arthritogenic humoral autoimmunity in mice.											
139799		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Runstadler, J. A.  et al. 2005	15641099				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish	Finland	CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2005 Jan;52(1):247-56	Association of SLC11A1 (NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: haplotype analysis in Finnishfamilies.		142857	19459	2	2005	 Taken together, these data provide support for the existence of a locus at or near SLC11A1 that is a strong susceptibility factor for JIA in Finnish patients.	Case:234 Finnnish juvenile idiopathic arthritis nuclear:families:Finland;Control:639 elderly Finnish controls without a history of juvenile idiopathic arthritis										
139800		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Wu, H.  et al. 2004	15476205				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2004 Oct;50(10):3093-103	Interaction between RANKL and HLA-DRB1 genotypes may contribute to younger age at onset of seropositive rheumatoid arthritis in an inception cohort.		142857	19942	2	2004	 This study provides the first evidence that novel RANKL polymorphisms were associated with an earlier age at RA onset in SE+, but not SE-, patients and that an interaction between SE-containing HLA-DRB1 and RANKL polymorphisms increased the disease penetrance, resulting in a mean age at RA onset that was 18-20 years younger. Our results also suggested genetic differences between patients with early-onset and those with late-onset RA.	Cohort 237 patients with early rheumatoid arthritis (within 15 months of symptom onset) who were seropositive for rheumatoid factor. 										
139801	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Peptic Ulcer|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kunstmann, E.  et al. 2003	12635936				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Germany	CDC GDPinfo	3123	Hs.534322			International journal of medical microbiology. 2003 Feb;292(8-Jul):537-40	Helicobacter pylori infection: CagA-specificantibodies are associated with clinical outcome, but not with HLA-class II polymorphisms of the host.		142857	20020	2	2003	There was no association between HLA-DRB1 alleles and the CagA status of infected individuals, although certain alleles show significant association to the infection status in different populations.	Cohort 380 unrelated German individuals 										
139802		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandez, L.  et al. 2005	16116311				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Inflammatory bowel diseases. 2005 Sep;11(9):785-91	A recombined haplotype in the major histocompatibility region contains a cluster of genes conferring high susceptibility to ulcerative colitis in the Spanish population.		142857	22050	2	2005	 The above-mentioned pattern, most likely formed by recombination of the telomeric fragment of the MHC 7.1 ancestral haplotype, seems to be the most important genetic determinant of susceptibility to the extensive form of UC in our population.											
139803		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-DRB1	32593131	32665559		Valentonyte, R.  et al. 2005	15735647				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Nature genetics. 2005 Apr;37(4):357-64	Sarcoidosis is associated with a truncating splice site mutation in BTNL2.		142857	22051	2	2005	The primary disease-associated variant (rs2076530; P(TDT) = 3 x 10(-6), P(case-control) = 1.1 x 10(-8); replication P(TDT) = 0.0018, P(case-control) = 1.8 x 10(-6)) represents a risk factor that is independent of variation in HLA-DRB1. BTNL2 is a member of the immunoglobulin superfamily and has been implicated as a costimulatory molecule involved in T-cell activation on the basis of its homology to B7-1. The G --> A transition constituting rs2076530 leads to the use of a cryptic splice site located 4 bp upstream of the affected wild-type donor site. Transcripts of the risk-associated allele have a premature stop in the spliced mRNA. The resulting protein lacks the C-terminal IgC domain and transmembrane helix, thereby disrupting the membrane localization of the protein, as shown in experiments using green fluorescent protein and V5 fusion proteins.	Case:947 independent cases of familial and sporadic:sarcoidosis										
139804		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559			16321988				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human molecular genetics. 2006 Jan;15(1):155-61	Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15		142857	22052	2	2005												
139806		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hoffmann, V.  et al. 2002	11857064				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2002 Feb;3(1):53-5	A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibilityand disease severity in patients with multiple sclerosis.		142857	22054	2	2002	We therefore conclude, that the requirement for CNTF in myelogenesis or cell survival may be bypassed by a second ligand or redundancy of functional activity of other neurotrophic factors.	Case:349 multiple sclerosis patients;Control:434 healthy controls										
139807		diabetes, type 1; Graves' disease	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mochizuki, M.  et al. 2003	12610047				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Diabetes care. 2003 Mar;26(3):843-7	Association of the CTLA-4 gene 49 A/G polymorphism with type 1 diabetes and autoimmune thyroid disease in Japanese children.		142857	22055	2	2003	 We have demonstrated that a distinct association exists between the G allele of CTLA-4 and high values of GAD Ab, residual beta-cell function, and the absence of HLA-DRB1*0405.	Control:controls;Case:97/20 Japnese children with type 1 diabetes (n=97) and Graves disease (n=20)										
139808		arthritis	IMMUNE	IMM	Cardiovascular Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Ordovas, J. M.  et al. 2002	11891412				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Current opinion in lipidology. 2002 Apr;13(2):113-7	The APOE locus and the pharmacogenetics of lipid response		142857	22056	2	2002	Review article											
139809		sclerosis, systemic	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Takeuchi, F.  et al. 2002	12508774				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Clinical and experimental rheumatology. 2002 Nov-Dec;20(6):823-8	Association of CTLA-4 with systemic sclerosis in Japanese patients.		142857	22057	2	2002	 In Japanese scleroderma, the +49A allele of CTLA-4 increased in the presence of SSc with the anti-RNP antibody.	Control:107 normal subjects;Case:66 Japanese systemic sclerosis patients										
139810		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559			16390390				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Pediatric diabetes. 2005 Dec;6(4):213-20	Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus		142857	22058	2	2005												
139811		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Miterski, B.  et al. 2004	15018649				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Germany	CDC GDPinfo	3123	Hs.534322			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		142857	22059	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
139812	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Fajardy, I.  et al. 2002	12047362				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		France	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2002 Jun;29(3):251-7	CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study andsegregation analysis. Evidence of a maternal effect.		142857	22060	2	2002	Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. This potential parental effect needs to be confirmed in a larger data set.	Case:134 type 1 diabetic patients;Control:273 control subjects										
139814	N	dystonia, focal	NEUROLOGICAL	NEUR	Dystonic Disorders|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sibbing, D.  et al. 2003	14581671				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		France|Germany	CDC GDPinfo	3123	Hs.534322			Neurology. 2003 Oct;61(8):1097-101	Candidate gene studies in focal dystonia.		142857	22062	2	2003	 No evidence for an involvement of DYT1, DRD5, HLA-DRB, or polymorphisms in the homocysteine pathway in the pathogenesis of F-ITD was found.	Control matched controls;Case:100 German focal idiopathic torsion dystonia patients;Control:100 matched controls;Case:121 French focal idiopathic torsion dystonia patients										
139815		celiac disease; colitis	IMMUNE	IMM	Colitis, Microscopic|Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandez-Banares, F.  et al. 2005	16292086				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of gastroenterology & hepatology. 2005 Dec;17(12):1333-8	Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitis.		142857	22063	2	2005	 The results suggest that there is an association of lymphocytic colitis with HLA-DQ2 genes, which might be relevant in the pathogenesis of this disease. The association of microscopic colitis with Marsh type III coeliac disease seems to be rare, making it unnecessary to routinely screen for coeliac disease in microscopic colitis patients.											
139816		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Duvefelt, K.  et al. 2004	14651518				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Jan;63(1):13-20	A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501.		142857	22064	2	2004	We conclude that  alleles of the NOTCH4 and TNFalpha genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6.	Control:180:controls;Case:181 multiple sclerosis										
139817		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Helbig, K. J.  et al. 2003	12595908				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		142857	22065	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
139818		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Tuokko, J.  et al. 2001	11229461				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish	Finland	CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2001 Feb;44(2):315-22	HLA haplotype analysis in Finnish patients with rheumatoid arthritis		142857	22066	2	2001	 Both protection-associated and susceptibility-associated alleles can be found among HLA class II genes, and the results suggest that loci outside DR/DQ may contribute to the pathogenesis of RA.	Case:67 Finnish RA patient haplotypes;Control:77 control haplotypes										
139819		arthritis, psoriatic	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gonzalez, S.  et al. 2002	12022360				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2002 May;29(5):973-8	MICA rather than MICB, TNFA, or HLA-DRB1 is associated with susceptibility to psoriatic arthritis.		142857	22067	2	2002	 Cw*0602 and MICA-A9 appear to be the strongest genetic susceptibility factors for PsA. However, MICA-A9 was associated independently of Cw6. HLA-B alleles and MICB-CA22 are associated secondarily to linkage with MICA. TNFA and HLA-DRB1 were not associated with PsA susceptibility, and our data suggest that their reported association may only reflect the linkage disequilibrium with MICA-A9 among the different populations studied.	Control:110 healthy controls;Case:81 Spanish patients with psoriatic arthritis										
139820		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Forre, O.  et al. 2002	12195624				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		142857	22068	2	2002	Review article											
139821		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Runstadler, J. A.  et al. 2004	15343265				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish	Finland	CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2004 Nov;5(7):562-71	HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: morecomplexity within the MHC.		142857	22069	2	2004	This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.	Case:234 Finnish JIA nuclear families:Finland;Control:639 elderly Finnish contol individuals										
139822		endometriosis; adenomyosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zong, L.  et al. 2002	11836687				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):49-51	[Comparative study of HLA-DQA1 and HLA-DRB1 allele in patients with endometriosis and adenomyosis]		142857	22070	2	2002	 The results indicate that HLA-DQA1*0301 and *0401 alleles are associated with both endometriosis and adenomyosis, and there is perhaps common mechanism involved in both endometriosis and adenomyosis based on HLA-DQA1 and HLA-DRB1 allele frequencies.	Control:44 normal individuals;Case:45 cases of adenomyosis;Case:51 cases of endometriosis										
139823		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 2|Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Martinka, E.  et al. 1999	15641229				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Vnitr Lek. 1999 Feb;45(2):103-9	[Latent autoimmune (type I) diabetes mellitus in adults. Part. II. Association of HLA antigens, status of cellular immunity and occurrence of other autoimmune diseases]		142857	22071	2	1999	We confirmed increased occurence of OSA in patients with LADA, what stress importance of routine screening for OSA in patients with LADA.	Control:20 healthy volunteers;Case:24/11 patients with latent autoimmune (Type-1) diabetes (n=24) and patients with Type-2 diabetes (n=11)										
139824		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zhao, M. L.  et al. 2005	16277897				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua fu chan ke za zhi. 2005 Oct;40(10):673-5	[Study on correlation between histocompatibility leukocyte antigen class II gene and gestational diabetes mellitus.]		142857	22072	2	2005	 The results suggest that there is correlation between HLA class II gene and gestational diabetes mellitus. DRB1*0301, DRB1*1302 and DQA1*0301 are the susceptible alleles of GDM.											
139825	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Silva, E. M.  et al. 2000	11045836				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Journal of pediatric gastroenterology and nutrition. 2000 Oct;31(4):391-4	Human leukocyte antigen class II alleles in white Brazilian patients with celiac disease.		142857	22073	2	2000	 The results show that HLA-DRB1*03, HLA-DRB1*07, and HLA-DQB1*02 alleles conferred susceptibility to CD in Brazilian patients. In contrast, HLADQB1*06 alleles conferred protection against development of the disease.	Case:25 patients with CD, 11 females and 14 males in white patients who had celiac disease Ribeirao Preto and Sao Paulo, Brazilian;Control:91 healthy individuals from the same geographical area and of similar ethnic background Ribeirao Preto and Sao Paulo, Brazilian										
139826		malaria	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Gibert M  et al. 2000	11053637				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish		CDC GDPinfo	3123	Hs.534322			Human immunology. 2000 Sep;61(9):930-6	HLA-DRB1 and DQB1 polymorphisms in southern France and genetic relationships with other Mediterranean populations.		142857	22074	2	2000	The haplotype frequencies showed relationships with North Africans and Jewish populations, as well as the common origin of Moroccan and Lebanese Jews.	Cohort 181 individuals originating from southern France French 										
139827		HLA-DR2 specificity	NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Vargas-Alarcon, G.  et al. 2001	11250046				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican		CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Mar;62(3):286-91	Polymorphism and distribution of HLA-DR2 alleles in Mexican populations.		142857	22075	2	2001	This data corroborates the restricted polymorphism of DRB1*15/16 and the high frequency of DRB1*16 subtype in autochthonous American populations and suggest that the differences in gene frequencies of DRB1*15/16 alleles could be helpful in distinguishing each of these population.	Case:68 DR2 positive individuals of Mexican Mestizo, Mazatecan, and Nahua descent										
139828		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ramos-Arroyo, M. A.  et al. 2001	11476906				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Aug;62(8):821-5	Heat-shock protein 70-1 and HLA class II gene polymorphisms associated with celiac disease susceptibility in Navarra (Spain)		142857	22076	2	2001	We therefore conclude that although HSP70-1 gene does not seem to be primarily associated with CD, it might be a component of the high risk haplotype, playing a role as an additional predisposing gene for the disease.	Case:128 celiac disease patients:Navarra, Spain;Control:94 healthy controls										
139829		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wang, S. S.  et al. 2001	11679920				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Costa Rica	CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2001 Nov;184(10):1310-4	Human leukocyte antigen class I and II alleles and risk of cervical neoplasia: results from apopulation-based study in Costa Rica.		142857	22077	2	2001	These results support the hypothesis that multiple risk alleles are needed in order to increase risk for cervical neoplasia, but a single protective allele may be sufficient for protection.	Case:166 patients with invasive cervical cancer, high-grade squamous intraepithelial lesions Cuanacaste, Costa Rica;Control:173 individuals who were HPV negative with no evidence of cervical neoplasia but with a history of high-risk sexual behavior;Case:320 patients with low-grade squamous intraepithelial lesions (LSILs); were positive for human papillomavirus (HPV) with no evidence of cervical:neoplasia										
139830		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Low, A. S.  et al. 2002	11841486				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2002 Feb;29(1):31-4	Association between two tumour necrosis factor intronic polymorphisms and HLA alleles.		142857	22078	2	2002	The frequencies of the uncommon alleles were 0.08 (+489A) and 0.05 (+691Gdel). The +489A allele is associated with carriage of DRB1*1104, DQB1*0301, B18 and B35. The +691Gdel allele is associated with carriage of DRB1*13 *11, DQB1*0301 and B44	Cohort 216 healthy individuals north England 										
139831	Y	sickle cell anemia	HEMATOLOGICAL	HEM	Bacterial Infections|Bacteremia|Salmonella Infections|Staphylococcal Infections|Pneumococcal Infections|Osteomyelitis|Meningitis|Anemia, Sickle Cell|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tamouza, R.  et al. 2002	11872237				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Mar;63(3):194-9	Infectious complications in sickle cell disease are influenced by HLA class II alleles.		142857	22079	2	2002	These findings suggest a direct involvement of HLA polymorphism in the development of major infections in SCD. Together with previous data on polymorphism of the Fc receptor and of the mannose-binding lectin, they provide evidence for a polygenic immunomodulation of the constitutively increased infectious risk in SCD.	Cohort 80 SCD patients living in Paris, 43 with at least one major infectious complication and 37 without infections 										
139832		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kikuoka, N.  et al. 2001	11894970				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Clinical endocrinology. 2001 Nov;55(5):597-603	Cytotoxic T lymphocyte antigen 4 gene polymorphism confers susceptibility to type 1 diabetes in Japanese children: analysis of association with HLAgenotypes and autoantibodies.		142857	22080	2	2001	 The CTLA4 gene might confer a susceptibility to childhood-onset Type 1 diabetes in the Japanese population. The association between this CTLA4 polymorphism and the HLA genotype was similar for both major groups with HLA high-risk alleles. CTLA4 might contribute to the humoral immune response to GAD in newly diagnosed subjects.	Control controls not otherwise specified in abstract;Case:125 childhood-onset Japanese subjects (50 males, 75 females) with Type 1 diabetes.										
139833		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DRB1	32593131	32665559		Akar, A.  et al. 2002	11978563				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of dermatology. 2002 May-Jun;12(3):236-9	HLA class II alleles in patients with alopecia areata		142857	22081	2	2002	Our findings suggested that DQB1*03 allele is a marker for general susceptibility to alopecia areata and may also serve as special genetic marker for susceptibility for the severe form of alopecia areata in our population. However, this association is not related to age at onset of the disease.	Control:50 helathy transplant donors;Case:65 alopecia areata patients										
139834		hepatitis B vaccination, humoral immune response	INFECTION	INF	Hepatitis B	6	6p21.3	HLA-DRB1	32593131	32665559		Lindemann, M.  et al. 2002	12083823				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Virology. 2002 Jun;297(2):245-52	Role of G protein beta3 subunit C825T and HLA class II polymorphisms in the immune response after HBV vaccination.		142857	22082	2	2002	In summary, the GNB3 825T allele appears as a marker particularly predictive of cellular and HLA-DQB1*0301 of humoral immune responses following HBV vaccination.	Cohort 77/79 probands after HBV basic immunization (n=77) and HBV booster-vaccinated healthy volunteers(n=79) 										
139835		cirrhosis	OTHER	OTH	Hepatitis C|Liver Cirrhosis	6	6p21.3	HLA-DRB1	32593131	32665559		Hue, S.  et al. 2002	12089669				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2002 Jul;186(1):106-9	Human leukocyte antigen class II alleles may contribute to the severity of hepatitis C virus-related liver disease.		142857	22083	2	2002	By multivariate analysis, cirrhosis was associated with male sex and age >50 years. HLA class II alleles may weakly contribute to the severity of HCV liver disease. Of persons infected with HCV, only 15%-20% spontaneously clear the virus, and the rest become chronically infected.	Cohort 233 HCV RNA-positive patients with chronic active hepatitis (197 patients with Knodell index of fibrosis F0-F3 and 36 patients with index of F4) 	hepatitis C									
139836	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	6	6p21.3	HLA-DRB1	32593131	32665559		Jun, T. Y.  et al. 2002	12109964				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			Psychiatry and clinical neurosciences. 2002 Aug;56(4):453-7	Human leukocyte antigen alleles in patients with bipolar disorder in the Korean population.		142857	22084	2	2002	The results of the present study suggest that HLA alleles may not confer susceptibility to bipolar disorder in the Korean population. To clarify the genetic influence of HLA on bipolar disorder, we should conduct a consecutive study with a larger cohort of subjects.	Control:206 normal controls;Case:87 bipolar patients:Korea										
139837	Y	human papillomavirus infection	INFECTION	INF	Papillomavirus Infections|Tumor Virus Infections	6	6p21.3	HLA-DRB1	32593131	32665559		Maciag, P. C.  et al. 2002	12134251				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2002 Jul;186(2):164-72	Polymorphisms of the human leukocyte antigen DRB1 and DQB1 genes and the natural history of human papillomavirus infection.		142857	22085	2	2002	The results suggest that HLA class II polymorphisms are involved in clearance and maintenance of HPV infection.	Cohort 620 samples from the Ludwig-McGill cohort 										
139838		malaria	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Velickovic, Z. M.  et al. 2002	12144623				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):397-406	HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations.		142857	22086	2	2002	Observed allele and haplotype frequencies were found to be in agreement with previously published HLA-DRB and HLA-DQB Polynesian data.	Cohort four Pacific Islands populations from the Cook Islands, Samoa, Tokelau and Tonga Pacific Islands 										
139839		HIV infection	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Motta, P.  et al. 2002	12150008				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Argentinian	Argentina	CDC GDPinfo	3123	Hs.534322			Medicina. 2002 ;62(3):245-8	Association of HLA-DQ and HLA-DR alleles with susceptibility or resistance to HIV-1 infection among the population of Chaco Province, Argentina.		142857	22087	2	2002	Our data show that there are HLA class II alleles associated with susceptibility or resistance to HIV-1 infection and that these differ among ethnic groups. We believe that our results differ from the other Caucasians populations due to the ethnic variability of Chaco inhabitants resulting from mixing between Caucasians and South American natives (Guaranies and Tobas).	Control:46/57 healthy control subjects participating in HLA-DQB1 study (n=46) and HLA-DRB1 study (n=57);Case:54 HIV-1 positive patients Chaco Province, Argentina										
139840		pemphigus vulgaris	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Glorio, R.  et al. 2002	12196893				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Argentina	CDC GDPinfo	3123	Hs.534322			Journal of cutaneous medicine and surgery. 2002 Sep-Oct;6(5):422-6	HLA Haplotypes and Class II Molecular Alleles in Argentinian Patients with Pemphigus Vulgaris		142857	22088	2	2002	 In patients with the haplotype DRb1* 0402/DQb1* 0302 the affectation of 10%-30% of the corporal surface prevailed (ACS). In patients with DRb1* 1401/DRQb1* 0503, involvement of <10% of the ACS prevailed.	Control:199 unselected individuals from the same ethnic group;Case:47 patients with a diagnosis of PV										
139841		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Chronic Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Renou, C.  et al. 2002	12235085				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gut. 2002 Oct;51(4):585-90	Histological features and HLA class II alleles in hepatitis C virus chronically infected patients with persistently normal alanine aminotransferase levels.		142857	22089	2	2002	 Our study confirms that patients with chronic hepatitis C and normal ALT levels have less severe liver disease than those with elevated ALT levels. This particular biochemical outcome may be explained, at least in part, by host immunogenetic factors such as the presence of HLA-DRB1*11.	Control:233 patients with chronic HCV infection and elevated ALT levels;Case:83 patients with chronic HCV infection and persistently normal ALT values										
139842		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bilinska, Z. T.  et al. 2002	12362498				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Polish	Poland	CDC GDPinfo	3123	Hs.534322			Polski merkuriusz lekarski. 2002 Jul;13(73):18-20	[Frequency of DRB1* and DQB1* alleles in Polish patients with dilated cardiomyopathy]		142857	22090	2	2002	In conclusion, these data give some support for autoimmune involvement in the pathogenesis of dilated cardiomyopathy.	Control:126 local controls;Case:52 unrelated patients with dilated cardiomyopathy (25 consecutive men, 27 consecutive women, mean age 38 +/- 16 years)										
139843		malaria	INFECTION	INF	Malaria	6	6p21.3	HLA-DRB1	32593131	32665559		Busson, M.  et al. 2002	12445316				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Vietnamese	Vietnam	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Jun;59(6):470-4	HLA-DRB1 and DQB1 allele distribution in the Muong population exposed to malaria in Vietnam.		142857	22091	2	2002	The striking presence of the HLA-DQ1*0502 allele (48% frequency) in the Viet Muongs is possibly	Cohort 91/103 individuals of the Viet Muong population (n=91) and Viet Kinh (n=103) population Vietnam 										
139844		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Vulvar Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Davidson, E. J.  et al. 2003	12543794				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Cancer research. 2003 Jan;63(2):400-3	Association between human leukocyte antigen polymorphism and human papillomavirus 16-positive vulval intraepithelial neoplasia in British women		142857	22092	2	2003	Such factors are important to the development of HPV vaccines for treatment of cervical and vulval neoplasia.	Case:42/114 HPV-16-positive high grade vulval intraepithelial neoplasia patients (n=42) and local HPV-16-positive cervical carcinoma patients (N=114);Control:946/144 local cadaver controls typed for HLA class I (n = 946) and II (n = 144) antigens										
139845		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Battelino, T.  et al. 2003	12787001				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Slovenia	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2003 Jun;30(3):223-7	The HLA-DRB, -DQB polymorphism and anti-insulin antibody response in Slovenian patients with type 1 diabetes.		142857	22093	2	2003	It is suggested that there may be a combined influence of the QBP5.12 promoter and the DQB1*0501 functional molecule on reduced IAA production.	Cohort 135 patients with type 1 diabetes (age 17.5 +/- 7.0 years, duration of T1D 9.14 +/- 6.3 years) 										
139846		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Varga, E.  et al. 2003	12793199				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Hungary	CDC GDPinfo	3123	Hs.534322			Acta microbiologica et immunologica Hungarica. 2003 ;50(1):33-41	The role of HLA-DRB1*04 alleles and their association with HLA-DQB genes in genetic susceptibility to rheumatoid arthritis in Hungarian patients.		142857	22094	2	2003	In spite of the fact, that the Hungarian population has been isolated linguistically over centuries, a considerable racial admixture has occurred following immigration and invasions, thus the present study confirms in Hungarian patients with RA, previous findings for RA and HLA in European countries.	Case rheumatoid arthritis patients:Hungary;Control:controls										
139847		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Samaha, H.  et al. 2003	12835080				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Molecular immunology. 2003 Jul;39(17-18):1079-81	HLA class II allele frequencies in the Lebanese population.		142857	22095	2	2003	These results confirm previous serological studies and show the high prevalence of DRB1*1101 and DQB1*0301 in Lebanon, which could be explained by the high frequency of consanguineous marriages in the population. The presence of other common alleles is consistent with historical data showing that the Lebanese population is an admixture of various ethnicities.	Cohort 191 unrelated Lebanese subjects 										
139848	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Han, F.  et al. 2003	12887819				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue za zhi. 2003 Apr;83(8):644-6	[HLA-DRB and -DQB allele contribution to narcolepsy susceptibility in Chinese patients with narcolepsy]		142857	22096	2	2003	 HLA DR(2) and HLADQw6 are markers for narcolepsy-cataplexy in Chinese.	Cohort 31 Chinese patients with narcolepsy 										
139849		glomerulonephritis, Hepatitis B virus-associated	IMMUNE	IMM	Glomerulonephritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Park, M. H.  et al. 2003	14617034				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Dec;62(6):505-11	Two subtypes of hepatitis B virus-associated glomerulonephritis are associated with different HLA-DR2 alleles in Koreans.		142857	22097	2	2003	These results suggest that HLA-DR or related genetic factor is associated with disease susceptibility to HBV-GN in Koreans, and different pathologic subtypes of HBV-GN are influenced by the genetic factors of the patients.	Control:100/89 HBsAg (-) healthy controls (n=100) and chronic HBV infected individuals (n=89);Case:46 adult Korean patients with Hepatitis B virus-associated glomerulonephritis										
139850		silicosis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Yuan, B.  et al. 2002	14694619				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2002 Apr;20(2):93-6	[The relationship between silicosis and the polymorphism of HLA-DRB1 *, DOB1 * genes]		142857	22098	2	2002	 HLA-DRB1 * 1401 and DQB1 * 05 may be the susceptible genes and HLA-DRB1 * 09 the protection gene of silicosis, both susceptibility and protection may be related to HLA-DR gene locus. The joint action of allele genes may affect the pathogenesis of silicosis.	Control:100 normal controls;Case:48 Chinese Han silicosis patients										
139851	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Al-Harbi, E. M.  et al. 2004	15013978				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian	Bahrain	CDC GDPinfo	3123	Hs.534322			Clinical and diagnostic laboratory immunology. 2004 Mar;11(2):292-6	Specific HLA-DRB and -DQB alleles and haplotypes confer disease susceptibility or resistance in Bahraini type 1 diabetes patients.		142857	22099	2	2004	These results confirm the association of specific HLA-DR and -DQ alleles and haplotypes with type 1 diabetes and may underline several characteristics that distinguish Bahraini patients from other Caucasians patients.	Case:107 unrelated type 1 diabetics:Bahrain;Control:88 healthy controls										
139852		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Vyakarnam, A.  et al. 2004	15096192				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunology. 2004 May;112(1):136-42	Possession of human leucocyte antigen DQ6 alleles and the rate of CD4 T-cell decline in human immunodeficiency virus-1 infection.		142857	22100	2	2004	Our results highlight the potential protective effect of HLA DQB1*06 alleles on the course of HIV disease.	Cohort 46/87/26 HIV-1 infected long-term non-progressors (n=46), intermediate progressors (n=87) and rapid progressors (n=26) 										
139853		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tang, J.  et al. 2004	15116308				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Zambian	Zambia	CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2004 May;189(9):1696-704	HLA-DRB1 and -DQB1 alleles and haplotypes in Zambian couples and their associations with heterosexual transmission of HIV type 1.		142857	22101	2	2004	Overall, associations of HLA class II polymorphisms with both HIV transmission and acquisition are not as readily interpretable as are effects reported for other loci.	Cohort 292 initially human immunodeficiency virus (HIV)-1-serodiscordant and cohabiting Zambian couples 										
139854		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Garavito, G.  et al. 2004	15120191				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Colombian	Colombia	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Apr;65(4):359-65	HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos.		142857	22102	2	2004	Our results suggest that studies of disease susceptibility in populations of admixed genetic background should take into account the contribution of different ethnic groups or nationalities in the recruitment of controls and patients studied in order to rule out genetic stratification.	Case:65 patients with juvenile rheumatoid arthritis:Colombia;Control:65:controls										
139855		lymphoma	CANCER	CAN	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Galgani, A.  et al. 2004	15120192				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Apr;65(4):366-72	HLA class II typing in newborns reveals a low frequency of the DRB1*04 allele and a high frequency of DRB1*11 allele in three regions of continental Italy.		142857	22103	2	2004	These findings furnish a genetic "portrait" of the populations of the analyzed regions that will be useful not only for investigation of the genetic risk of type 1 diabetes mellitus in Italy but also for studies of other autoimmune diseases related to HLA genotypes.	Cohort 3,607 newborns Lombardia, Liguria, and Lazio, Italy 										
139856		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Luongo, V.  et al. 2004	15191529				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Jul;64(1):84-7	HLA allele frequency and clinical outcome in Italian patients with cutaneous melanoma.		142857	22104	2	2004	In a 3-year follow-up study, results showed significant differences between groups of patients selected according to clinical stage, histology, and progression of the disease.	Control:203 ethnically matched controls;Case:382 Italian cutaneous melanoma patients										
139857	Y	lymphoma	CANCER	CAN	Lymphoma|Hodgkin Disease|Lymphoma, Non-Hodgkin	6	6p21.3	HLA-DRB1	32593131	32665559		Al-Tonbary, Y.  et al. 2004	15203870				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Egypt	CDC GDPinfo	3123	Hs.534322			Hematology (Amsterdam, Netherlands). 2004 Apr;9(2):139-45	HLA class II polymorphism in Egyptian children with lymphomas.		142857	22105	2	2004	 (1) The susceptibility to NHL is related to HLA-DRB1 *0403 and *1301 and HLA-DQB1 *0501,* 0201 and *0301. (2) The susceptibility to HD is related to HLA-DRB1 *0403 and *1202 and HLA-DQB1 *0604, *0201 and *0203. (3) HLA-DRB1 *1302 and HLA-DQB1 *0502 and *0602 may confer protection to NHL. (4) Different HLA alleles may have a role in patients with both groups of lymphoma and further study is needed to better define the possible prognostic value of different HLA associations in patients with lymphomas regarding increased risk in the presence of certain HLA alleles and the possibility for treatment modifications in the future based on the presence or absence of certain HLA alleles.	Control:121/59 unrelated healthy subjects for DRB1 alleles (n=121) and unrelated healthy subjects for DQB1 alleles:(n=59);Case:30 children with lymphoma										
139858		lymphoma	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Almawi, W. Y.  et al. 2004	15242955				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and diagnostic laboratory immunology. 2004 Jul;11(4):770-4	HLA class II profile and distribution of HLA-DRB1 and HLA-DQB1 alleles and haplotypes among Lebanese and Bahraini Arabs.		142857	22106	2	2004	Our results underline significant differences between these two populations in HLA class II distribution, provide basic information for further studies of major histocompatibility complex heterogeneity among Arabic-speaking countries, and serve as a reference for further anthropological studies.	Cohort 95/72 healthy Lebanese Arab (n=95) and healthy Bahraini Arab (n=72) subjects 										
139859	Y	recurrent respiratory papillomatosis	OTHER	OTH	Papilloma|Respiratory Tract Neoplasms|Neoplasm Recurrence, Local	6	6p21.3	HLA-DRB1	32593131	32665559		Bonagura, V. R.  et al. 2004	15336778				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasians, African American		CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Aug;65(8):773-82	HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis		142857	22107	2	2004	Larger studies are needed to identify other class II major histocompatibility complex alleles that may influence disease predisposition, disease severity, or both, especially in African-American patients, to ultimately illuminate the regulatory effects of these alleles in the predisposition and severity of RRP.	Control:controls;Case:70 randomly selected patients (56 Caucasians and 14 African-Americans) with recurrent respiratory:papillomatosis										
139860		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Almawi, W. Y.  et al. 2004	15350494				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Transplantation proceedings. 2004 Jul-Aug;36(6):1844-6	Distribution of HLA class II (DRB1/DQB1) alleles and haplotypes among Bahraini and Lebanese Arabs		142857	22108	2	2004	Our results underline significant differences between these two populations in HLA class II distribution, and provide basic information for further studies of MHC heterogeneity among Arab-speaking countries, and as a reference for further anthropologic studies.	Cohort 90/52 Lebanese (n=90) and Bahraini Arabs (n=52) 										
139861		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hrycek, A.  et al. 2004	15449022				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology international. 2005 Nov;26(1):6-Jan	HLA-DRB1 and -DQB1 alleles and gene polymorphisms of selected cytokines in systemic lupus erythematosus.		142857	22109	2	2004	These data indicate that this combination could contribute toward determining the susceptibility to SLE, but its possible significance will require confirmation by further studies.	Case:24 Cauacasian systemic lupus erythematosus patients Upper Silesia;Control:36 healthy controls										
139862		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Marrosu, M. G.  et al. 2004	15452304				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Neurology. 2004 Sep;63(6):1084-6	Bias in parental transmission of the HLA-DR3 allele in Sardinian multiple sclerosis.		142857	22110	2	2004		Cohort 1,097 multiple sclerosis patients from a Sardinian cohort Sardinia 										
139863		pregnancy loss, recurrent; rhinitis	REPRODUCTION	REP		6	6p21.3	HLA-DRB1	32593131	32665559		Wen, G.  et al. 2004	15476187				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue yi chuan xue za zhi. 2004 Oct;21(5):522-3	[Analysis of HLA-DRB1,DQB1 allele polymorphism in the Kunming Yi nationality population]		142857	22111	2	2004	 The distribution of HLA-DRB1, DQB1 allele polymorphism in the Kunming Yi nationality population is distinctive. It is neither like that in the South Han population nor like that in the North Han population.	Cohort 70 healthy children of Yi nationality Kunming, China 										
139864	Y	coronary artery ectasia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Dilatation, Pathologic	6	6p21.3	HLA-DRB1	32593131	32665559		Akdemir, R.  et al. 2004	15529553				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Acta cardiologica. 2004 Oct;59(5):499-502	HLA-DR B1 and DQ B1 polymorphisms in patients with coronary artery ectasia.		142857	22112	2	2004	 HLA-DR B1*13, DR16, DQ2 and DQ5 may be associated with the pathogenesis and increase the risk of CAE.	Case:26 patients with coronary artery ectasia without associated cardiac defect;Control:95 healthy subjects who were donors for different organ transplantations										
139865		liver cancer; lymphoma	CANCER	CAN	Hepatitis C|Lymphoma, B-Cell|Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		De Re, V.  et al. 2004	15556690				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Nov;65(11):1397-404	Hepatitis C virus-related hepatocellular carcinoma and B-cell lymphoma patients show a different profile of major histocompatibility complex class II alleles.		142857	22113	2	2004	These data suggest that NHL and HCC development may be associated to a different response with respect to chronic HLA class II-restricted antigen presentation (perhaps a switch toward CD4+Th2 response in NHL?) or, alternatively, that these alleles could be in linkage disequilibrium to unrelated gene(s), or are in synergy with other immunomodulatory genes that may confer increased risk for NHL.	Control:144 hospitalized patients without NHL or HCC;Case:50/29 patients with HCV-associated non-Hodgkin's lymphoma (n=50) and patients with HCV-associated hepatocellular carcinoma (n=29)										
139866	Y	Vogt-Koyanagi-Harada's disease	IMMUNE	IMM	Uveomeningoencephalitic Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Levinson, R. D.  et al. 2004	15603876				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		California	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Dec;65(12):1477-82	HLA-DRB1 and -DQB1 alleles in mestizo patients with Vogt-Koyanagi-Harada's disease in Southern California.		142857	22114	2	2004	This study is the first to identify a possible association between HLA-DRB1*0404 and VKH disease, as well as to find DRB1*0102 and DRB1*0410 in Mestizo patients.	Control Mestizo individuals;Case:29 Mestizo individuals with Vogt-Koyanagi-Harada's:disease Southern California										
139867		macular degeneration	VISION	VIS	Macular Degeneration	6	6p21.3	HLA-DRB1	32593131	32665559		Goverdhan, S. V.  et al. 2005	15851575				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Investigative ophthalmology & visual science. 2005 May;46(5):1726-34	Association of HLA class I and class II polymorphisms with age-related macular degeneration.		142857	22115	2	2005	 Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function.	Control:100 subsequent controls from the same cohort;Case:100 subsequent cases from the same cohort;Case:100 age-related macular degeneration cases;Control:92 control subjects										
139869		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Al-Jenaidi, F. A.  et al. 2005	15985473				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Bahrain|Lebanon	CDC GDPinfo	3123	Hs.534322			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5104-9	Contribution of selective HLA-DRB1/DQB1 alleles and haplotypes to the genetic susceptibility of type 1 diabetes among Lebanese and Bahraini Arabs.		142857	22117	2	2005	 In view of these differences between Bahraini and Lebanese, this demonstrates that the contribution of HLA class II to the genetic susceptibility to T1D must be evaluated with regard to specific HLA haplotypes and also ethnic origin and racial background.											
139870		H. pylori infection; thrombocytopenic purpura, idiopathic	INFECTION	INF	Helicobacter Infections|Purpura, Thrombocytopenic, Idiopathic	6	6p21.3	HLA-DRB1	32593131	32665559		Veneri, D.  et al. 2005	16011982				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Platelets. 2005 Aug;16(5):307-11	Analysis of B- and T-cell clonality and HLA class II alleles in patients with idiopathic thrombocytopenic purpura: correlation withHelicobacter pylori infection and response to eradication treatment.		142857	22118	2	2005			bacterium eradication Helicobacter pylori									
139871		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-DRB1	32593131	32665559		Takakuwa, K.  et al. 2005	16122986				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			Clinical immunology (Orlando, Fla). 2006 Jan;118(1):101-7	Molecular genetic studies on the compatibility of HLA class II alleles in patients with unexplained recurrent miscarriage in the Japanese population.		142857	22119	2	2005												
139872		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DRB1	32593131	32665559		Ndung'u, T.  et al. 2005	16148166				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Botswana	CDC GDPinfo	3123	Hs.534322			Clinical and diagnostic laboratory immunology. 2005 Sep;12(9):1020-8	Major histocompatibility complex class II (HLA-DRB and -DQB) allele frequencies in Botswana:association with human immunodeficiency virus type 1 infection.		142857	22120	2	2005												
139874		pneumoconiosis	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Fan, X. Y.  et al. 2005	16188098				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua lao dong wei sheng zhi ye bing za zhi. 2005 Aug;23(4):278-81	[Relationship between pneumoconiosis and the polymorphisms of HLA-DRB1*, DQB1* genes]		142857	22122	2	2005	 HLA-DRB1*08 allele may be the susceptible risk gene for pneumoconiosis. HLA-DQB1*06 may be the protective gene against developing pneumoconiosis.											
139875		urticaria	OTHER	OTH	Urticaria|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Chen, J.  et al. 2005	16201295				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of Huazhong University of Science and Technology Medical sciences. 2005 ;25(3):354-6	Association of HLA-DRB1, DQB1 alleles with chronic urticaria.		142857	22123	2	2005												
139876		Lyme disease	INFECTION	INF	Lyme Disease|Erythema Chronicum Migrans|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wormser, G. P.  et al. 2005	16267776				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2005 Dec;192(11):2020-6	Association between Human Leukocyte Antigen Class II Alleles and Genotype of Borrelia burgdorferi in Patients with Early Lyme Disease.		142857	22124	2	2005	 The DRB1*0101 allele and the DRB1*0101-DQB1*0501 haplotype may be relevant to the development of infection with strains from the least invasive genotypes of B. burgdorferi.											
139878		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Pascual, M.  et al. 2001	11229460				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2001 Feb;44(2):307-14	Rheumatoid arthritis in southern Spain: towardelucidation of a unifying role of the HLA class II region in disease predisposition		142857	22126	2	2001	 The low prevalences of RA and of mild disease observed in Spain, and in southern Europe in general, can be explained in great part by the low frequency of DQ3-DR4 haplotypes, especially those carrying DRB1*0401. However, the overall distribution of HLA-DQ and -DR alleles in RA patients compared with control subjects is similar to that in other European and North American populations. A model involving both DQ and DR can best account for the contribution of HLA to RA.	Control:153 healthy controls;Case:160 RA patients										
139879	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lin, P.  et al. 2001	11588129				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Senegalese	Senegal	CDC GDPinfo	3123	Hs.534322			Cancer epidemiology, biomarkers & prevention. 2001 Oct;10(10):1037-45	HLA class II DR-DQ and increased risk of cervical cancer among Senegalese women.		142857	22127	2	2001	Observations from this study confirm earlier findings of a negative association between DRB1*13 and cervical cancer and suggest that specific DRB1-DQB1 haplotype combinations, rather than individual DQB1*03 alleles, increase the risk for cervical cancer.	Control:190 age-matched (human papillomavirus) HPV-positive (n = 83) and HPV-negative (n = 107) control women;Case:55 Sengalese women with invasive cervical carcinoma										
139880		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Ionescu-Tirgoviste, C.  et al. 2001	11724419				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetologia. 2001 Oct;44 Suppl 3:B60-6	Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes		142857	22128	2	2001	Part of the explanation for the low incidence of Type I diabetes in Romania could be the lower frequency of the DRB1*03 - DQB1*02 and DQB1*0302 susceptibility haplotypes in this country.	Cohort 204 Type I diabetic Romanian families Romania 										
139881	Y	tuberculosis	METABOLIC	MET	Tuberculosis, Pulmonary|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Zhao, Y.  et al. 2001	11802942				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua jie he he hu xi za zhi. 2001 Feb;24(2):75-9	[Analysis of the association between HLA-DRB(1), DQB(1) gene and pulmonary tuberculosis complicated with diabetes mellitus]		142857	22129	2	2001	 The results indicate that the DRB(1) * 09 allele is susceptive to the pulmonary tuberculosis complicated with type 2 diabetes mellitus, the DQB(1) * 05 may be protective to the pulmonary tuberculosis complicated with diabetes mellitus. The DRB(1) * 09 allele and DQB(1) * 05 allele may affect the incidence of the pulmonary tuberculosis complicated with type 2 diabetes mellitus, or real effect genes link with them.	Case:123 cases of pulmonary tuberculosis with type 2:diabetes;Control:45 type 2 diabetic cases;Control:46 normal subjects										
139882	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kawabata, Y.  et al. 2002	11812768				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan|Korea	CDC GDPinfo	3123	Hs.534322			Diabetes. 2002 Feb;51(2):545-51	Asian-specific HLA haplotypes reveal heterogeneity of the contribution of HLA-DR and -DQ haplotypes to susceptibility to type 1 diabetes.		142857	22130	2	2002	These data, which indicate that the contribution of HLA haplotypes to the genetic susceptibility to type 1 diabetes differs depending on the genotypic combination of HLA haplotypes, suggest the importance of extensive analysis of genotypes in studies on HLA and disease association in general.	Control:109 Korean control subjects;Case:132 Japanese type 1 diabetic patients;Control:157 Japanese controls subjects;Case:67 Korean type 1 diabetic patients										
139883		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rubio, J. P.  et al. 2002	11923913				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Tasmania	CDC GDPinfo	3123	Hs.534322			American journal of human genetics. 2002 May;70(5):1125-37	Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis.		142857	22131	2	2002	We propose that the analysis of haplotypes, by use of the types of approaches outlined in the present article, should make it possible to more accurately define the contribution of the HLA to MS.	Control:105 unaffected control subjects of Tasmanian ancestry;Case:152 Tasmanian patients with multiple sclerosis										
139884		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wu, M. S.  et al. 2002	11985790				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Taiwanese	Taiwan	CDC GDPinfo	3123	Hs.534322			Japanese journal of cancer research. 2002 Apr;93(4):404-10	Association of HLA-DQB1*0301 and HLA-DQB1*0602 with different subtypes of gastric cancer in Taiwan.		142857	22132	2	2002	In conclusion, HLA-DQB1(*)0602 confers suscepti-bility to gastric cancer, especially for male Taiwanese and proximal tumor location, while HLA-DQB1(*)0301 may have a protective effect on GC, probably through resistance to Helicobacter pylori infection. HLA-DQB1 alleles are associated with susceptibility or resistance to GC and also influence its clinical features.	Case:106 Taiwanese patients with gastric cancer:Taiwan;Control:208 healthy controls	Helicobacter pylori									
139885		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sirikong, M.  et al. 2002	12028537				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai	Thailand	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Feb;59(2):113-7	Association of HLA-DRB1*1502-DQB1*0501 haplotype with susceptibility to systemic lupus erythematosus in Thais.		142857	22133	2	2002	Taken together with the previous report which demonstrated the association of the same haplotype in Taiwan, our present observations strongly suggested that DRB1*1502 - DQB1*0501 is the major HLA haplotype that confers susceptibility to SLE in the South-east Asian populations.	Case Thai systemic lupus erythematosus patients;Control normal controls										
139886		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.3	HLA-DRB1	32593131	32665559		Hong, S. C.  et al. 2002	12071546				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			Sleep. 2002 Jun;25(4):440-4	HLA and hypocretin studies in Korean patients with narcolepsy.		142857	22134	2	2002	 These results illustrate the similarity of narcolepsy-cataplexy in Korea in comparisons with other more studied populations. We also identified a new potential HLA protective subtype, HLA-DRB1*0406.	Case:20 Korean patients diagnosed with narcolepsy:Korea;Control:21 Korean controls										
139887		myopathy, idiopathic inflammatory	IMMUNE	IMM	Myositis|Dermatomyositis	6	6p21.3	HLA-DRB1	32593131	32665559		Shamim, E. A.  et al. 2002	12124873				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian	Guatemala|Mexico|United States	CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2002 Jul;46(7):1885-93	Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians:ethnogeographic influences in the genetics and clinical expression of myositis.		142857	22135	2	2002	 IIM in Mesoamerican Mestizos differs from IIM in North American Caucasians in the frequency of phenotypic features and in the immune-response genes predisposing to and protecting from myositis and anti-Mi-2 autoantibodies at 4 chromosomal loci. These and other data suggest the likelihood that the expression of IIM is modulated by different genes and environmental exposures around the world.	Cohort 138/287 Mestizos with IIM (n=138) and Caucasians with IIM (n=287) 										
139888		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Milicic, A.  et al. 2002	12233873				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Great Britain	CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2002 Sep;29(9):1821-6	HLA-DR/DQ haplotype in rheumatoid arthritis: novelallelic associations in UK Caucasians.		142857	22136	2	2002	 These data corroborate the shared epitope hypothesis of susceptibility to RA and provide strong evidence for the DRB1 locus as the primary RA susceptibility factor in the HLA region.	Control 2 large sets of historical, ethnically matched healthy controls;Case:685 patients with rheumatoid arthritis										
139889		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Madeleine, M. M.  et al. 2002	12447731				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2002 Dec;186(11):1565-74	Human leukocyte antigen class II and cervical cancer risk: a population-based study.		142857	22137	2	2002	These results add to the evidence that certain HLA class II alleles or allele combinations, or genes linked to them, make some women more susceptible to SCC.	Case:315 women with invasive squamous cell cervical cancer;Control:381 control subjects										
139890		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Pascual, M.  et al. 2002	12455817				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Spain	CDC GDPinfo	3123	Hs.534322			Scandinavian journal of rheumatology. 2002 ;31(5):275-8	HLA haplotypes and susceptibility to rheumatoid arthritis. More than class II genes.		142857	22138	2	2002	The present results along with data from others prove the existence of a second predisposing locus located inside the MHC region, and suggest that might be located within the TNFa-HLA-B region.	Case:147 Spanish rheumatoid arthritis patients;Control:202:controls										
139891		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DRB1	32593131	32665559		Zhou, S.  et al. 2003	12579512				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China	CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):79-81	[Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans]		142857	22139	2	2003	 The results suggest that the combination of HLA-DRB1*4, DQB1*0302 and HLA-DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans.	Case Chinese Han patients with pemphigus vulgaris Jiangsu and Anhui provinces;Control matched controls										
139892		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Silverberg, M. S.  et al. 2003	12656131				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish	Canada	CDC GDPinfo	3123	Hs.534322			Inflammatory bowel diseases. 2003 Jan;9(1):9-Jan	A population- and family-based study of Canadian families reveals association of HLA DRB1*0103 with colonic involvement in inflammatory bowel disease.		142857	22140	2	2003	These data demonstrate the association of the HLA DRB1*0103 allele with both Crohn's disease and ulcerative colitis and with large intestine-restricted disease in non-Jewish IBD patients and therefore identify HLA DRB1*0103 as a potentially important contributor to disease susceptibility and to expression of colonic involvement in IBD.	Case:118 Caucasian inflammatory bowel disease sibling pair:families;Control:216 healthy controls										
139893		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Quelvennec, E.  et al. 2003	12694585				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Martinique	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Feb;61(2):166-71	Genetic and functional studies in multiple sclerosis patients from Martinique attest for a specific and direct role of the HLA-DR locus in the syndrome.		142857	22141	2	2003	On the whole, our results show a prominent role of the DRB1 locus (DRB1*1501 and/or DRB1*1503 alleles) in the immunodominant MBP 85-99 peptide presentation to genetically different MS patients and suggest a neutral role of the DQB1 encoded molecule in MS susceptibility.	Control:100:controls;Case:55 multiple sclerosis patients:Martinique										
139894		diabetes, type 1	IMMUNE	IMM	Enterovirus Infections|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Craig, M. E.  et al. 2003	12721936				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2003 May;187(10):1562-70	Reduced frequency of HLA DRB1*03-DQB1*02 in children with type 1 diabetes associated with enterovirus RNA.		142857	22142	2	2003	These results suggest that there is a subgroup of patients with T1DM, who are at low genetic risk, in whom enteroviruses contribute to diabetes onset.	Control:160 healthy control children;Case:206 consecutively diagnosed children with type 1:diabetes										
139895		myasthenia gravis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Kuffner, T.  et al. 2003	12770797				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African American		CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Jun;64(6):639-47	HLA class II and TNF genes in African Americans from the Southeastern United States: regionaldifferences in allele frequencies		142857	22143	2	2003	These varying major histocompatibility complex gene frequencies may reflect different regional population structures among AAs in the United States, which may be due to differences in ancestral origins, migration, and racial admixture.	Cohort 112 healthy, unrelated African Americans (AAs) southeastern United States 										
139896		malaria	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Shanmugalakshmi, S.  et al. 2003	12823769				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	South Indian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Jun;61(6):451-64	HLA-DRB1*, -DQB1* in Piramalai Kallars and Yadhavas, two Dravidian-speaking castes of Tamil Nadu, South India.		142857	22144	2	2003	The study suggested that South Indian, inbred, endogamous, sympatrically isolated castes or similar well-defined breeding isolates around the world, living under the same milieu-epidemiology, may be ideal models to test the immunogenetic basis of disease susceptibility.	Cohort 205/239/84 Two Dravidian-speaking castes of Tamil Nadu, Piramalai Kallars (PKs, n = 205) and Yadhavas (YDs, n = 239) and a random panel (84) South India 										
139897	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Torio, A.  et al. 2003	12878360				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Spain	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Aug;64(8):811-5	HLA class II genotypic frequencies in atopic asthma: association of DRB1*01-DQB1*0501 genotypewith Artemisia vulgaris allergic asthma.		142857	22145	2	2003	The results reveal that the DRB1*01-DQB1*0501 genotype is strongly associated with a positive response to Artemisia vulgaris in the population studied.	Control:150:controls;Case:213 atopic asthmatic patients										
139898		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Oksenberg, J. R.  et al. 2003	14669136				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African Americans	United States	CDC GDPinfo	3123	Hs.534322			American journal of human genetics. 2004 Jan;74(1):160-7	Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.		142857	22146	2	2003	This finding is unlikely to be solely explained by admixture, since a substantial proportion of the susceptibility chromosomes from African American patients with MS displayed haplotypes consistent with an African origin.	Case African American multiple sclerosis patients;Control:controls										
139899		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cerna, M.  et al. 2003	14675393				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Czech	Czech Republic	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2003 Dec;30(6):401-7	HLA in Czech adult patients with autoimmune diabetes mellitus: comparison with Czech childrenwith type 1 diabetes and patients with type 2 diabetes.		142857	22147	2	2003	We conclude that  the presence of predisposing DQB1 alleles in adults with type 1 diabetes decreases with the age, probably due to environmental factors. Only the DRB1*03, but not the DQB1 gene, becomes the main predisposing allele in LADA patients. These findings suggest that the presence of HLA-DQB1*0302 identifies patients at high risk of requiring insulin treatment. Type 1 diabetes mellitus (DM) in children or adults may have partly different immunogenetic etiopathogenesis than LADA.	Control:controls;Case:80/70/131 type 1 diabetic adults (n=80), latent autoimmune diabetic adults (n=70) and type 2 diabetics (n=131)										
139900	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Rewers, A.  et al. 2003	14679080				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2003 Nov;1005:301-9	Ethnic differences in the associations between the HLA-DRB1*04 subtypes and type 1 diabetes.		142857	22148	2	2003	In summary, on the DRB1*03,DQB1*0201/DRB1*04,DQB1*0302 genotypes, the *0403 allele confers relative protection from type 1 diabetes and development of islet autoantibodies in both Hispanics and NHWs and is associated with older age at diabetes diagnosis. Although the associations between diabetes and*0401 and *0405 appear to differ somewhat between Hispanics and NHWs, overall there is no significant difference between these two ethnic groups.	Case:193 type 1 diabetic patients;Control:205 nondiabetic controls										
139901	Y	rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Choreatic Disorders|Chorea|Aortic Valve Insufficiency|Mitral Valve Insufficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Stanevicha, V.  et al. 2003	14680508				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Latvia	CDC GDPinfo	3123	Hs.534322			Arthritis research & therapy. 2003 ;5(6):R340-6	HLA class II associations with rheumatic heart disease among clinically homogeneous patients in children in Latvia.		142857	22149	2	2003	Genotyping control showed a high risk of RF and RHD in patients with DRB1*01-DQB1*0301-DRB1*07-DQB1*0302 and DRB1*15-DQB1*0302-DRB1*07-DQB1*0303.	Control:100 healthy individuals;Case:70 rheumatic feber patients under the age of 18:Latvia										
139902		azoospermia	REPRODUCTION	REP	Oligospermia|Chromosome Deletion	6	6p21.3	HLA-DRB1	32593131	32665559		Takao, T.  et al. 2004	14718045				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			International journal of andrology. 2004 Feb;27(1):37-41	Susceptibility gene for non-obstructive azoospermia in the HLA class II region: correlations with Ychromosome microdeletion and spermatogenesis		142857	22150	2	2004	While the DRB1*1302-DQB1*0604 haplotype acts independently from Y chromosome deletion, the haplotype might either act directly, or be functionally related to an unknown autosomal gene. In either case, this haplotype showed association with severe spermatogenic impairment.	Cohort non-obstructive azoospermia Japanese patients 										
139903		lupus erythematosus; antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Freitas, M. V.  et al. 2004	14995006				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Lupus. 2004 ;13(2):125-31	Is HLA class II susceptibility to primary antiphospholipid syndrome different from susceptibility to secondary antiphospholipid syndrome?		142857	22151	2	2004	Taken together, these results indicate that the association of SAPS with HLA-DRB1*03 is due to the association with SLE and is not due to aCL, and suggest that the HLA class II profile of PAPS is different from that of SAPS.	Case:123 patients with secondary antiphospholipid syndrome;Control:166:controls										
139904		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Buzzetti, R.  et al. 2004	15037989				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Diabetes. 2004 Mar-Apr;20(2):137-43	Genetic prediction of type 1 diabetes in a population with low frequency of HLA risk genotypes and low incidence of the disease (the DIABFIN study).		142857	22152	2	2004	 Risk classification must be tailored to the characteristics of the individual population, in particular, the allelic frequencies in the background population and T1DM prevalence. We have developed a screening strategy with good levels of sensitivity that should prove effective for use throughout the Italian peninsula.	Case:356 type 1 diabetic patients:Italy;Control:412:controls										
139905		IgE response	IMMUNE	IMM	Hypersensitivity|Occupational Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Jones, M. G.  et al. 2004	15144476				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and experimental allergy. 2004 May;34(5):812-6	Association of HLA-DQ5 and HLA-DR1 with sensitization to organic acid anhydrides.		142857	22153	2	2004	 DQB1(*)05 gene confers susceptibility to develop specific IgE antibodies against HHPA, MHHPA and a non-significant trend with MTHPA. DQB1(*)0501 is protective for other low molecular chemical sensitizers (isocyanates and plicatic acid) which may indicate varying affinities for the corresponding specific class II molecules.	Case:52 cases who had confirmed specific IgE;Control:73 referents matched on site, age and duration of acid anhydride exposure identified in cross-sectional studies of workers exposed to hexahydrophthalic:(HHPA), methylhexahydrophthalic (MHHPA) and:methyltetrahydrophthalic (MTHPA) anhydrides	acid anhydrides									
139906	Y	liver disease	OTHER	OTH	Hepatitis, Toxic	6	6p21.3	HLA-DRB1	32593131	32665559		Andrade, R. J.  et al. 2004	15185301				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Hepatology (Baltimore, Md). 2004 Jun;39(6):1603-12	HLA class II genotype influences the type of liver injury in drug-induced idiosyncratic liver disease.		142857	22154	2	2004	However, the genetic influence associated with HLA class II alleles appears to play a role in the biochemical expression of liver injury in cholestatic/mixed hepatotoxicity and may explain why a given drug may cause different patterns of	Case:140 patients with a definitive or probable diagnosis of drug-induced idiosyncratic liver disease;Control:635 volunteer bone marrow and blood donors										
139907		liver transplant	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Araujo, M. B.  et al. 2004	15194331				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Transplantation proceedings. 2004 May;36(4):953-5	Development of donor-specific microchimerism in liver transplant recipient with HLA-DRB1 and -DQB1 mismatch related to rejection episodes.		142857	22155	2	2004	These results suggest that the presence of microchimerism may be associated with acceptance, tolerance and survival of the allograft.	Cohort 32 liver transplant recipients 										
139908		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rani, R.  et al. 2004	15245369				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Aug;64(2):145-55	Molecular basis of predisposition to develop type 1 diabetes mellitus in North Indians.		142857	22156	2	2004	Thus, the two independently assorting alleles at two loci i.e., DRB1*0301 and INS-VNTR class I, on two different chromosomes may have the potential to predict a prediabetic in North India.	Case:110 type 1 diabetes patients North India;Control:112 healthy controls										
139909	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Van Gaalen, F. A.  et al. 2004	15248208				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2004 Jul;50(7):2113-21	Association between HLA class II genes and autoantibodies to cyclic citrullinated peptides (CCPs) influences the severity of rheumatoid arthritis.		142857	22157	2	2004	 HLA class II RA susceptibility alleles are associated with production of anti-CCP antibodies. Moreover, more severe disease progression is found in RA patients with both anti-CCP antibodies and SE alleles.	Cohort 268 rheumatoid arthritis patients Leiden, Belgium 										
139910	Y	thryoiditis, chronic lymphocytic	IMMUNE	IMM	Goiter|Hypothyroidism|Autoimmune Diseases|Thyroiditis, Autoimmune|Atrophy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Engelbrecht Zantut-Wittmann, D.  et al. 2004	15305234				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Horm Metab Res. 2004 Jul;36(7):492-500	HLA-DRB1*04 and HLA-DQB1*03 association with the atrophic but not with the goitrous form of chronic autoimmune thyroiditis in a Brazilian population.		142857	22158	2	2004	We have demonstrated that the DRB1*04 allele is associated with autoimmune thyroiditis, and that there are genotypic differences regarding the presentation forms with a strong association between DRB1*04 and DQB1*03 and the atrophic form only.	Cohort 91 patients with primary hypothyroidism through autoimmune thyroiditis Campinas, Sao Paulo, Brazil 										
139911		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Shankarkumar, U.  et al. 2004	15336786				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Aug;65(8):847-54	HLA DRB1* and DQB1* allelic diversity among nadars:A primitive South Indian Dravidian caste group		142857	22159	2	2004	The present study shows that the Nadar caste has several unique alleles and haplotypes at high frequency that are rare or absent in other populations of India and the world.	Cohort 84 unrelated healthy Nadar individuals Tamil Nadu State, India 										
139912	N	hemophilia	HEMATOLOGICAL	HEM	Hemophilia A	6	6p21.3	HLA-DRB1	32593131	32665559		Bril, W. S.  et al. 2004	15357778				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Haemophilia. 2004 Sep;10(5):509-14	HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg to Cys mutation		142857	22160	2	2004	Our data suggest that inhibitor development in mild haemophilia A patients with an Arg(593) to Cys mutation is not linked to HLA class II profile.	Cohort 49 patients with mild hemophilia A 										
139913		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Novota, P.  et al. 2004	15388265				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunology letters. 2004 Sep;95(2):229-32	Diabetes mellitus in adults: association of HLADRB1 and DQB1 diabetes risk alleles with GADab presence and C-peptide secretion.		142857	22161	2	2004	We conclude that  the DRB1*04 and DQB1*0302 alleles are associated with progressive decrease of CP level, while DRB1*03 is a significant genetic marker of autoantibody (GADab) development.	Case:334 patients (190 women) diagnosed after 35 years of:age;Control:99 control subjects										
139914		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Murao, S.  et al. 2004	15448101				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Diabetes. 2004 Oct;53(10):2684-90	Differences in the contribution of HLA-DR and -DQ haplotypes to susceptibility to adult- and childhood-onset type 1 diabetes in Japanese patients.		142857	22162	2	2004	These results suggest differences in the contribution of HLA class II haplotypes to susceptibility of type 1 diabetes depending on the clinical phenotype and also indicate that HLA class II haplotypes may be associated with the onset age of type 1 diabetes.	Control:190 control subjects;Case:68/28/80 acute-onset type 1 diabetic patients (n=68), slowly progressive type 1 diabetic patients (n=28) and chilhood-onset type 1 diabetic patients (n=80)										
139915		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Marrosu, M. G.  et al. 2004	15471889				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Human molecular genetics. 2004 Dec;13(23):2919-24	The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.		142857	22163	2	2004	We conclude that  shared disease associations due to the HLA-DRB1-DQB1 loci provide only a partial explanation for the observed increased prevalence of T1D in Sardinian MS patients. The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits.	Case:1,049 multiple sclerosis patients (n=1,049, 31 of whom also had type 1 diabetes) and type 1 diabetic:patients (n=1,052):Sardinia;Control:1,917 ethnically matced controls										
139916		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Yu, J.  et al. 2004	15507397				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea|Europe	CDC GDPinfo	3123	Hs.534322			Clinical immunology (Orlando, Fla). 2004 Dec;113(3):318-25	Analysis of children with type 1 diabetes in Korea:high prevalence of specific anti-islet autoantibodies, immunogenetic similarities to Western populations with "unique" haplotypes, and lack of discrimination by aspartic acid at position 57 of DQB.		142857	22164	2	2004	We suggest this unique HLA-DR, -DQ allele distribution might be an important factor for the low incidence of T1DM in Korea, and the combined anti-islet autoantibody assays could be valuable screening markers for the early detection of T1DM in Korea.	Case Korean chidren with type 1 diabetes:Korea;Control:controls										
139917		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Ramal, L. M.  et al. 2004	15645749				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Gypsy, Roma	Mediterranean Region|Spain	CDC GDPinfo	3123	Hs.534322			Lupus. 2004 ;13(12):934-40	Systemic lupus erythematosus in southern Spain: acomparative clinical and genetic study between Caucasian and Gypsy patients.		142857	22165	2	2004	In conclusion, we found some clinical differences between WCM and Gypsy patients with SLE. Furthermore, HLA associations between HLA-DRB1-DQB1 and SLE were different for Gypsy people.	Control:185 healthy unrelated individuals, 105 WC and 80:Gypsies;Case:81/25 Caucasian Medieterranean (n=81) and Gypsy (n=25) patients with systemic lupus erythematosus										
139918		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Entz, P.  et al. 2005	15663743				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 Jan;65(1):67-80	New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing.		142857	22166	2	2005	Our well-elaborated Pyrosequencing(TM)-based protocols offer a new alternative to the existing HLA class-II typing methods and represent a convenient and economic solution, a unique combination of high accuracy with high-sample throughput.	Cohort samples from the Deutscher Zell Austausch 2002 and 2003 and standard DNA samples 										
139919		psychological distress	PSYCH	PSY	Hypersensitivity, Delayed|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Smith, A.  et al. 2005	15664787				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Brain, behavior, and immunity. 2005 Mar;19(2):147-52	Does genotype mask the relationship between psychological factors and immune function?		142857	22167	2	2005	These results suggest that the distress/immune relationship in genetically susceptible or protected individuals may be underestimated in psychoneuroimmunology research.	Cohort 227 participant imunized with keyhole limpet hemocyanin 	keyhole limpet hemocyanin									
139920	Y	pollen allergy	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Jahn-Schmid, B.  et al. 2005	15696102				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of allergy and clinical immunology. 2005 Feb;115(2):399-404	Antigen presentation of the immunodominant T-cell epitope of the major mugwort pollen allergen, Art v 1, is associated with the expression of HLA-DRB1 *01.		142857	22168	2	2005	 Allergy to Art v 1 is characterized by a uniform T-cell response. The disease is apparently associated with the HLA-DR1 phenotype. Therefore, mugwort pollinosis is an ideal candidate for a peptide-based immunotherapy.	Case patients with allergy;Control healthy controls										
139921	Y	diabetes, type 1; Addison's disease	IMMUNE	IMM	Diabetes Mellitus, Type 1|Addison Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gambelunghe, G.  et al. 2005	15734871				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Diabetes. 2005 Mar;54(3):900-5	Retrovirus-like long-terminal repeat DQ-LTR13 and genetic susceptibility to type 1 diabetes and autoimmune Addison's disease.		142857	22169	2	2005	We provide conclusive evidence that the genetic association of DQ-LTR13 with type 1 diabetes and AAD is primarily due to a LD with DQB1*0302 and DRB1*0403.	Control:1,054 healthy subjects;Case:315/166 type 1 diabetic patients (n=315) and autoimmune Addison's disease (n=166) patients										
139922		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Petrone, A.  et al. 2005	15786423				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetes. 2005 May-Jun;21(3):271-5	Residual insulin secretion at diagnosis of type 1 diabetes is independently associated with both, age of onset and HLA genotype.		142857	22170	2	2005	 The degree of beta-cell destruction at diagnosis of T1DM is independently associated with both, age of onset and HLA genotypes, the two variables exert a similar quantitative effect on residual beta-cell function at diagnosis.	Cohort 871 type 1 diabetes consecutive Caucasian patients 										
139923		H. pylori infection	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Huang, Y. K.  et al. 2005	15833172				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua er ke za zhi Chinese journal of pediatrics. 2005 Feb;43(2):137-40	[Possible association between HLA-HRB1 and DQB1 genes frequency and susceptibility or resistance to Helicobacter pylori infection in Kunming Yi ethnic group children]		142857	22171	2	2005	 HLA-DRB1 * 12 and HLA-DQB1 * 0301 gene may be associated with protection against Hp infection in Kunming Yi ethnic group children. Further studies with larger sample size are needed to clarify if HLA-DRB1 * 11 and HLA-DQB1 * 04 are associated with susceptible gene to Hp infection.	Cohort 156 children of Yi ethnic group Kunming city 										
139924		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Anaya, J. M.  et al. 2005	15846589				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Colombian	Colombia	CDC GDPinfo	3123	Hs.534322			Seminars in arthritis and rheumatism. 2005 Apr;34(5):735-43	Immunogenetics of primary Sjogren's syndrome in Colombians.		142857	22172	2	2005	 The HLA-DRB1*0301-DQB1*0201 haplotype and IL-10 participate in the histopathological progression of SS, autoantibody production, and clinical manifestations. Bak protein and its gene polymorphism may participate in the pathology and susceptibility of disease. HLA and cytokine (IL-10 and IFN-gamma) manipulation may be helpful in treating patients with primary SS.	Case Sjogren's syndrome patients;Control:controls										
139925		HIV; Toxoplasmic encephalitis	INFECTION	INF	Toxoplasmosis, Cerebral|AIDS-Related Opportunistic Infections|Encephalitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Habegger de Sorrentino, A.  et al. 2005	15885635				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Argentina	CDC GDPinfo	3123	Hs.534322			Clinical immunology (Orlando, Fla). 2005 May;115(2):133-7	HLA class II involvement in HIV-associated Toxoplasmic encephalitis development.		142857	22173	2	2005	 It was concluded that the presence of HLA-DQB*0402 and DRB1*08 alleles in HIV-1-positive patients could be considered risk factors for developing neurological opportunistic infections, mainly Toxoplasmic encephalitis.	Case:108;Control:112 HIV-seronegative healthy individuals										
139927		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DRB1	32593131	32665559		Dubaniewicz, A.  et al. 2005	15958261				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Poland	CDC GDPinfo	3123	Hs.534322			Tuberculosis (Edinburgh, Scotland). 2005 Jul;85(4):259-67	Frequency of DRB1-DQB1 two-locus haplotypes in tuberculosis: preliminary report.		142857	22175	2	2005												
139928		Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Park, M. H.  et al. 2005	15993720				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Jun;66(6):741-7	Association of HLA-DR and -DQ genes with Graves disease in Koreans.		142857	22176	2	2005												
139929		Lyme disease	INFECTION	INF	Lyme Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Klempner, M. S.  et al. 2005	16107953				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2005 Sep;192(6):1010-3	A case-control study to examine HLA haplotype associations in patients with posttreatment chronic Lyme disease.		142857	22177	2	2005			antibiotics									
139930		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary	6	6p21.3	HLA-DRB1	32593131	32665559		Voorter, C. E.  et al. 2005	16112030				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Jul;66(7):826-35	Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1*0602-DRB1*150101.		142857	22178	2	2005												
139932		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		McGuigan, C.  et al. 2005	16158194				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Ireland	CDC GDPinfo	3123	Hs.534322			Journal of neurology. 2005 Oct;252(10):1245-8	Population frequency of HLA haplotypes contributes to the prevalence difference of multiple sclerosis in Ireland.		142857	22180	2	2005	 Although the numbers tested in this study were small the results suggest one of the factors accounting for the difference in MS prevalence across the island of Ireland is likely to be variation in the genetic predisposition to MS within the Irish population.											
139933		polyangiitis	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Tsuchiya, N.  et al. 2005	16208405				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2006 Jan;7(1):81-4	Association of HLA-DRB1(*)0901-DQB1(*)0303 haplotype with microscopic polyangiitis in Japanese.		142857	22181	2	2005												
139935		pemphigus vulgaris	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DRB1	32593131	32665559		Geng, L.  et al. 2005	16261886				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Chinese medical sciences journal. 2005 Sep;20(3):166-70	Association between pemphigus vulgaris and human leukocyte antigen in Han nation of northeast China.		142857	22183	2	2005	 PV significantly relates with HLA in PV patients of Han nation of northeast China.											
139936		rheumatoid arthritis, extra-articular	IMMUNE	IMM	Arthritis, Rheumatoid|Felty's Syndrome|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Turesson, C.  et al. 2005	16277691				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis research & therapy. 2005 ;7(6):R1386-93	The impact of HLA-DRB1 genes on extra-articular disease manifestations in rheumatoid arthritis.		142857	22184	2	2005												
139937		vulval lichen sclerosus	OTHER	OTH	Vulvar Lichen Sclerosus|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Gao, X. H.  et al. 2005	16297186				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Great Britain	CDC GDPinfo	3123	Hs.534322			The Journal of investigative dermatology. 2005 Nov;125(5):895-9	The Association Between HLA DR, DQ Antigens, and Vulval Lichen Sclerosus in the UK: HLA DRB112 andits Associated DRB112/DQB10301/04/09/010 Haplotype Confers Susceptibility to Vulval Lichen Sclerosus, and HLA DRB10301/04 and its Associated DRB10301/04/DQB		142857	22185	2	2005												
139939		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16320082				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetologia. 2005 Dec;48(12):2540-3	D6S265*15 marks a DRB1*15, DQB1*0602 haplotype associated with attenuated protection from type 1 diabetes mellitus		142857	22187	2	2005												
139940		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Prediabetic State	6	6p21.3	HLA-DRB1	32593131	32665559			16358956				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rocz Akad Med Bialymst. 2005 ;50:151-4	Interleukin 18 and sICAM-1 serum levels in families with type 1 diabetes mellitus		142857	22188	2	2005												
139941		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559			16386650				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Oct;66(10):1074-81	Association of HLA-DR and HLA-DQ Genes With Susceptibility to Pulmonary Tuberculosis in Koreans: Preliminary Evidence of Associations WithDrug Resistance, Disease Severity, and Disease Recurrence		142857	22189	2	2005												
139943		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Blood Group Incompatibility|Graft vs Host Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Greinix, H. T.  et al. 2005	15531903				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Bone marrow transplantation. 2005 Jan;35(1):57-62	Impact of HLA class I high-resolution mismatches on chronic graft-versus-host disease and survival of patients given hematopoietic stem cell grafts from unrelated donors.		142857	22191	2	2005	Overall survival was significantly reduced in patient/donor pairs with more than one-allele class I mismatch. Thus, selection of unrelated donors for transplantation should be based on high-resolution HLA class I typing.	Cohort 144 patients given hematopoietic stem cell transplantation from unrelated donors 										
139944		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Kuwana, M.  et al. 2003	14677183				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2003 Nov;30(11):2392-7	HLA class II alleles in systemic sclerosis patients with anti-RNA polymerase I/III antibody:associations with subunit reactivities.		142857	22192	2	2003	 Our results suggest that in patients with SSc, anti-RNAP I/III antibodies are composed of subsets defined by combinations of reactivities to individual RNAP subunits having specific HLA class II correlations.	Case:257 systemic sclerosis patients (129 Japanese and 128:Caucasians);Control:271 race-matched regional controls (138 Japanese and 133 Caucasians)										
139945		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cardoso, C. B.  et al. 2005	15908298				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			European journal of dermatology. 2005 May-Jun;15(3):159-63	Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis.		142857	22193	2	2005	These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.	Control:100:controls;Case:60 psoriasis vulgaris patients:Campinas, Brazil										
139946		allergy, latex; latex allergy; pemphigoid, bullous	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Correa, P. A.  et al. 2002	12144632				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Colombian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):436-9	HLA-DR and DQB1 gene polymorphism in the North-western Colombian population.		142857	22194	2	2002	The most frequently observed specificities at the DRB1 locus were *07 (16.4%) and *15 (12%), and at the DQB1 locus *02 (18.8%) and *03 (33.6%), of which *0302 was the most prevalent allele (14.3%). The most polymorphic specificities were DRB1*04, 13 and 11, and DQB1*06. Both the HLA-DRB1 and DQB1 loci were in linkage disequilibrium.	Cohort 100 unrelated healthy individuals from an area in north-west Colombia (Medellin) north-west Colombia (Medellin) 										
139947		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Carrington, C. V.  et al. 2002	12392858				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Trinidadian		CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Nov;63(11):1045-54	A comparison of HLA-DR and -DQ allele and haplotype frequencies in Trinidadian populations of African, South Asian, and mixed ancestry		142857	22195	2	2002	Trinidad South Asians displayed similar allele frequencies and associations to other populations from Northern India.	Cohort 75/98/102 individuals of African (n = 75), South Asian (n = 98), and mixed (n = 102) ancestry Trinidad 										
139948		allergy, latex; latex allergy	IMMUNE	IMM	Spinal Dysraphism|Latex Hypersensitivity|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rihs, H. P.  et al. 2002	12209103				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of allergy and clinical immunology. 2002 Sep;110(3):507-14	HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy		142857	22196	2	2002	 The DQB1*0302 (DQ8) alone, the DQB1*0302 (DQ8)-DRB1*04 (DR4) haplotype, or both are significantly involved in the hevein-specific IgE immune response in HCWs with latex allergy.	Case:269/56 healthy care workers (n=269) and spina bifida patietns (n=56) with latex allergies;Control:90 nonatopic control subjects										
139949		sclerosis, systemic	OTHER	OTH	Scleroderma, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Kang, S. H.  et al. 2001	11469465				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2001 Jul;28(7):1577-83	Association of HLA class II genes with systemic sclerosis in Koreans.		142857	22197	2	2001	 HLA-DR gene has a primary association with anti-topo I response, and HLA-DR 38V-67FLEDR71 group alleles including DRB5*0102 (in linkage disequilibrium with DRB1*1502) show the strongest association with anti-topo I response in Korean patients with SSc.	Control:200 healthy control subjects;Case:74 patients with systemic sclerosis										
139950		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Meddeb-Garnaoui, A.  et al. 2001	11334675				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Mediterranean Region	CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		142857	22198	2	2001	this result was not significant after using Bonferroni correction. These results do not support association between susceptibility to MVL and the MHC class II and class III loci analyzed in this study.	Control:154 selected on the basis of a positive leishmanin skin test unrelated healthy controls who have got asymptomatic infection with this parasite and were;Case:156 unrelated mediterranean visceral leishmaniasis:patients										
139951		Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Wang, C.  et al. 2005	15747244				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2005 Apr;191(7):1084-92	Human leukocyte antigen and cytokine gene variants as predictors of recurrent Chlamydia trachomatis infection in high-risk adolescents.		142857	22199	2	2005	Consistent with the observed IL10 association, cervical secretions in female adolescents without the IL10 G-C-C haplotype had elevated IL-10 concentrations after Chlamydia infection, which may reflect involvement of a Chlamydia-specific mechanism for genetically mediated, differential IL-10 expression in the genital tract.	Cohort 485 North American adolescents at high risk for genital Chlamydia trachomatis infection 										
139952		diabetes, type 1; Graves' disease; Hashimoto's thryroiditis	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Yang, J. M.  et al. 2005	16005098				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			Diabetes research and clinical practice. 2006 Feb;71(2):164-9	Interleukin-12p40 gene (IL-12B) polymorphism and Type 1 diabetes mellitus in Japanese: Possible rolein subjects without having high-risk HLA haplotypes.		142857	22200	2	2005												
139953		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Motzo, C.  et al. 2004	15561961				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetes. 2004 Dec;53(12):3286-91	Heterogeneity in the magnitude of the insulin gene effect on HLA risk in type 1 diabetes.		142857	22201	2	2004	These genetic results are consistent with an interaction between the protein products of the HLA and INS alleles, in which both the affinity of the various HLA class II molecules for a preproinsulin-derived peptide and the levels of this peptide in the thymus act jointly as key regulators of type 1 diabetes autoimmunity.	Control:1,023 control subjects;Case:944 type 1 diabetic patients:Sardinia										
139954		diabetes, type 1; measles	IMMUNE	IMM	HIV Seropositivity	6	6p21.3	HLA-DRB1	32593131	32665559		Tang, J.  et al. 2001	11250044				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Africa	CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Mar;62(3):269-78	Novel alleles at the lymphotoxin alpha (LTalpha) locus mark extended HLA haplotypes in native Africans.		142857	22202	2	2001	These findings suggest a preferential expansion of the human TNFc dinucleotide (CT/AG) repeat sequence and further imply the existence of two extended MHC lineages that have not been disrupted by recombinations.	Cohort 285/319 285 Rwandans and 319 Zambians Rwanda and Zambia 										
139955		typhoid fever	INFECTION	INF	Typhoid Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dunstan, S. J.  et al. 2001	11120931				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Vietnamese	Vietnam	CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2001 Jan;183(2):261-268	Genes of the class II and class III major histocompatibility complex are associated with typhoid fever in Vietnam.		142857	22203	2	2001	This report identifies a genetic association in humans between typhoid fever and MHC class II and III genes.	Case individuals with blod culture-confirmed typhoid:fever;Control:controls										
139956		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		McHugh, N.  et al. 2005	16107511				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annals of the rheumatic diseases. 2005	MHC Class II, tumor necrosis factor-{alpha} and lymphotoxin-{alpha} gene haplotype associations with serological subsets of systemic lupus erythematosus.		142857	22204	2	2005	 The strongest association in this predominantly white population with SLE was between HLA-DR3 and anti-La, which seemed to account for any associations with TNFalpha alleles on an extended DR3 haplotype.											
139958		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	HLA-DRB1	32593131	32665559		Brown, M. A.  et al. 2002	12118167				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		142857	22206	2	2002	Review article											
139959		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Aguilera, E.  et al. 2003	12605834				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Med Clin (Barc). 2003 Feb;120(4):121-4	[Clinical, metabolic, immunologic and genotypic characteristics in non-pediatric patients with type 1A diabetes mellitus. Onset and short-term prognosis]		142857	22207	2	2003	 Clinical, immunological and HLA characteristics of a non-pediatric DM1 population are in agreement with expected results. The absence of pancreatic autoimmune markers neither rules out the existence of type 1A diabetes mellitus nor is associated with mutations in the MODY-3 gene. A therapeutic programme using conventional intensified insulin treatment prevents the impairment of insulin secretory capacity for a short-term follow-up.	Cohort 86 subjects with an age >= 15 and 35 years recently diagnosed with type 1 diabetes 1998-2001 										
139960		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zanelli, E.  et al. 2001	11165717				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jan;62(1):75-84	The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci.		142857	22208	2	2001	We conclude that  the telomeric part of the HLA region contains a locus conferring predisposition to RA independently of HLA class II.	Case:132 rhematoid arthritis patients;Control:254:controls										
139961		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Vatay, A.  et al. 2002	12270547				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunology letters. 2002 Nov;84(2):109-115	Differences in the genetic background of latent autoimmune diabetes in adults (LADA) and type 1 diabetes mellitus.		142857	22209	2	2002	 Our findings indicate that there are marked differences in the genetic background of type 1 diabetes and LADA. The low presence of TNF2 allele (known to be associated with high amount of TNF alpha production) in LADA could be one of the factors responsible for the relatively slow progression.	Control:336/138 cadaver kidney donors (n=336) and volunteers:(n=138);Case:69/42 type 1 diabetic (n=69) and Latent Autoimmune Diabetes in Adults (n=42) patients										
139962		leptospirosis	INFECTION	INF	Leptospirosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lingappa, J.  et al. 2004	15014429				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2004 May;5(3):197-202	HLA-DQ6 and ingestion of contaminated water:possible gene-environment interaction in an outbreak of Leptospirosis.		142857	22210	2	2004	Based on these preliminary findings, we hypothesize a role for superantigens in leptospirosis and underscore the importance of outbreak investigations for understanding infectious disease gene-environment interactions.	Cohort 85 triathletes in a lake swim during a 1998 leptospirosis outbreak investigation 	leptospirosis									
139963		cutaneous neonatal lupus	IMMUNE	IMM	Heart Block|Lupus Erythematosus, Cutaneous	6	6p21.3	HLA-DRB1	32593131	32665559		Clancy, R. M.  et al. 2004	15334474				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2004 Aug;50(8):2598-603	Genetic association of cutaneous neonatal lupus with HLA class II and tumor necrosis factor alpha:Implications for pathogenesis		142857	22211	2	2004	 Taken together, the finding of a genetic predisposition to generate increased levels of TNFalpha following tissue injury and the histologic demonstration of TNFalpha in the target organ support the notion that this inflammatory cytokine plays a role in the pathogenesis of cutaneous neonatal lupus. Furthermore, the results of these studies provide evidence of a biologic link between neonatal lupus and the rash of SCLE.	Cohort 83/58 children (22 with rash, 35 with congenital heart block [CHB], 26 unaffected siblings) and 58 mothers from the Research Registry for Neonatal Lupus 										
139964		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance|Metabolic Syndrome X|Obesity	6	6p21.3	HLA-DRB1	32593131	32665559		Giger, J. N.  et al. 2005	15825968				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Alabama|Georgia	CDC GDPinfo	3123	Hs.534322			Ethnicity & disease. 2005 ;15(2):221-32	Genetic predictors of coronary heart disease risk factors in premenopausal African-American women.		142857	22212	2	2005	 The association of APOE, DRB1, D6589 and TNFa alleles with risk of CHD suggest that these are candidate genes or linked to genes for CHD in this cohort of AAW. Our data supported elevated plasma Lp(a) as a potential risk factor in AAW; however, its role is still unclear. The premenopausal AAW in this sample had a higher than expected rate of metabolic syndrome, which was associated with DRB1 alleles.	Control:117 African-American premenopausal community and military subjects who were at low risk for coronary heart disease;Case:173 African-American premenopausal community and military subjects who were at high risk for coronary heart disease										
139966		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kochi, Y.  et al. 2004	14730600				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2004 Jan;50(1):63-71	Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences		142857	22214	2	2004	 These findings suggest that 1 or more other loci besides the HLA-DRB1 or other DRB1 (non-shared epitope, non-*0901) alleles are involved in RA susceptibility/protection.	Control:1,032:controls;Case:828 patients with rheumatoid arthritis										
139967		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Goljan, A.  et al. 2000	11320565				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Polish	Poland	CDC GDPinfo	3123	Hs.534322			Pneumonol Alergol Pol. 2000 ;68(12-Nov):545-56	[A probe for evaluating the role of HLA class II antigens coded with the DRB gene in etiopathogenesis of familial sarcoidosis in Poland using the K-nearest neighbor experimental statistical method]		142857	22215	2	2000	We concluded that using HLA-DR antigens as features characterising every individual we can predict with high probability to which class ("high risk" or "healthy") individual would belong.	Control:101 healthy control group;Case:111 from 17 familes with familial occurrence of:sarcoidosis:Poland										
139968		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Myung, S. J.  et al. 2002	12073071				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Korea	CDC GDPinfo	3123	Hs.534322			International journal of colorectal disease. 2002 Jul;17(4):233-7	HLA-DRB1*1502 confers susceptibility to ulcerative colitis, but is negatively associated with its intractability: a Korean study.		142857	22216	2	2002	 Our data are consistent with those of Japanese studies in that DR2 and DRB1*1502 are positively associated with UC patients. In contrast to the Japanese study, however, our results demonstrates that DRB1*1502 is negatively associated with the risk of colectomy in Korean patients with UC.	Control:182 ethnically matched unrelated controls;Case:70 patients with ulcerative colitis:Korea										
139969	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gelbmann, C. M.  et al. 2001	11742191				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of gastroenterology & hepatology. 2001 Dec;13(12):1431-7	Association of HLA-DR genotypes and IL-1ra gene polymorphism with treatment failure of budesonide and disease patterns in Crohn's disease		142857	22217	2	2001	 This is the first description of an association of a certain HLA-DR genotype (HLA-DR 8) with treatment failure in inflammatory bowel disease (IBD).	Cohort 318 patients with Crohn's disease treated with daily doses of 6, 9 or 18 mg budesonide 	budesonide									
139970		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kurylowicz, A.  et al. 2005	16279844				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Thyroid. 2005 Oct;15(10):1119-24	Association of CD40 Gene Polymorphism (C-1T) with Susceptibility and Phenotype of Graves' Disease.		142857	24697	2	2005	 Our results support the notion that CD40 C-1T polymorphism has a modest effect on genetic susceptibility to sporadic GD.											
139971		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Relapsing-Remitting	6	6p21.3	HLA-DRB1	32593131	32665559		Lucas, M.  et al. 2004	15218339				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish		CDC GDPinfo	3123	Hs.534322			European neurology. 2004 ;52(1):7-Dec	A study of promoter and intronic markers of ApoI/Fas gene and the interaction with Fas ligand in relapsing multiple sclerosis.		142857	24698	2	2004	In conclusion, our findings suggest a weak association between the intronic marker Fas-MaeI and MS and a relative interaction with Fas ligand in an MS cohort of South Spanish extraction.	Control:215 healthy individuals;Case:312 relapsing multiple sclerosis patients of Spanish:extraction:Spain										
139972	Y	lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lee, H. S.  et al. 2003	12867584				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2003 Dec;42(12):1501-7	Independent association of HLA-DR and FCgamma receptor polymorphisms in Korean patients with systemic lupus erythematosus.		142857	24699	2	2003	 Our results suggest that FcgammaRIIa-R/R131 homozygote and HLA-DRB1*15 allele are independent risk factors in Korean SLE patients without additive or synergistic effects.	Control:144 Korean disease-free controls;Case:299 SLE patients meeting 1982 ACR criteria										
139973		H. pylori infection	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Wu, G. G.  et al. 2004	15555263				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua xue ye xue za zhi. 2004 Aug;25(8):473-7	[Study of HLA polymorphism in the 6965 Han bone marrow registry donors]		142857	24700	2	2004	 Large-scale DNA-based HLA genotyping used in bone marrow registry donors is highly accurate and reliable for estimating gene frequency and searching for new alleles. The discrepancy of HLA gene distribution between South and North China Han population showed the necessity of setting the more regions in South and North China to screen the bone marrow registry donors for bone marrow transplant.	Cohort 6,965 unrelated Han bone marrow donors, 4707 from South China origin and 2258 from north China 										
139974		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	6	6p21.3	HLA-DRB1	32593131	32665559		Liu, H. Y.  et al. 2005	15975271				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhonghua gan zang bing za zhi. 2005 Jun;13(6):410-3	[Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis]		142857	24701	2	2005	 Susceptibility to primary biliary cirrhosis in Chinese is associated with DRB1*0701 allele and differs from people in North America, South America, North Europe and even in Japan, but the association is not restricted to any particular subgroup of patients. Valine at position 78 of HLA DRbeta1 may play an important role in the pathogenesis of primary biliary cirrhosis.											
139976		leukemia	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Lan, T.  et al. 2005	16215957				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):583-4	[Polymorphism of HLA-A,-B and DRB1 in Han population of Shanxi province]		142857	24703	2	2005	 The HLA-A,-B,-DRB1 distribution in Shanxi Han population shares some genetic characteristics with other Han populations in northern part of China, but it exhibits its own characteristics.											
139977		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Xu, R.  et al. 2004	15228651				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2004 Jun;12(3):282-6	[Prediction of acute GVHD after umbilical cord blood transplantation by HLA three-dimensional structure matching]		142857	24704	2	2004	In conclusion, utilization of modeling HLA molecular three-dimension can predict the severe aGVHD after UCBT quickly, simply and accurately. It provides scientific basis in choosing a optimal cord blood donor to avoid severe aGVHD for physicians and the cord blood banks. And it is instructive too to direct the application of immunosuppressive agents after transplantation in clinic.	Cohort 25 patients with blood disorder who underwent UCBT and their donors 										
139978	Y	leukemia	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Gao, S. Q.  et al. 2005	15854278				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2005 Apr;13(2):210-4	[Study on the correlation between acute lymphoblastic leukemia and HLA genes in southern China Han population.]		142857	24705	2	2005	It is concluded that HLA-A26, B56 and DR9 gene have a high correlation with ALL and seem to contribute the genetic susceptibility to ALL in southen Chinese Han populations. However, HLA-A30, A33 and B58 gene seem to have protective role for southern Han individuals suffered from ALL.	Case:201 acute lymphoblastic leukemia patients diagnosed as patient group from southern Han individuals;Control:4,707 healthy volunteer bone morrow donors from southern Chinese Han population										
139979		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Morel, J.  et al. 2003	12858445				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2003 Jul;30(7):1485-90	Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus.		142857	24706	2	2003	 This is the first study evaluating the influence of HLA-DM in a Caucasian SLE population. Our results suggest that HLA-DMA*0104 may represent a novel allele of susceptibility to SLE.	Control:147/86 randomly selected controls (n=147) and HLA-DRB1 genotyped matched controls;Case:73 patients with systemic lupus erythematosus										
139980		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Martinez, A.  et al. 2004	15077289				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2004 Apr;50(4):1077-82	Association of the major histocompatibility complex with response to infliximab therapy in rheumatoid arthritis patients		142857	24707	2	2004	 The data suggest that genetic determinants of response to infliximab therapy exist in the HLA complex.	Control:342 healthy individuals;Case:78 infliximab-treated patients with RA	infliximab									
139981	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cocco, E.  et al. 2005	15699400				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Neurology. 2005 Feb;64(3):564-6	HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS.		142857	24708	2	2005	The risk of the primary progressive course was increased (odds ratio = 6.81, p = 0.002) in women carrying the APOE4 but not the DRB1-DQB1 predisposing genotype, suggesting in this subgroup of patients a reciprocal influence between these genes and gender in modulating clinical variability of the disease.	Control:348 control subjects;Case:871 patients with multiple sclerosis (773 with relapsing and 98 with primary progressive disease)										
139982	Y	azoospermia	REPRODUCTION	REP	Oligospermia|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Matsuzaka, Y.  et al. 2002	12366783				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Jul;60(1):53-63	Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: Primary role of DQB1*0604		142857	24709	2	2002	Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia.	Case patients with non-obstructive azoospermia;Control:controls										
139983		Goodpasture's disease	RENAL	REN	Anti-Glomerular Basement Membrane Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Persson, U.  et al. 2004	15199166				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Sweden	CDC GDPinfo	3123	Hs.534322			Nephrology, dialysis, transplantation. 2004 Aug;19(8):2030-5	Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.		142857	24710	2	2004	 This study effectively falsifies the hypothesis that a minor alteration in the COL4A3 gene could be a major factor in the aetiology of GP. Scandinavian GP patients have an MHC distribution similar to that which has been described previously for Anglo-Saxon patients.	Control:controls;Case:15 patients with Goodpasture's disease										
139984	Y	Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Iwama, S.  et al. 2005	15640608				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			Hormone research. 2005 ;63(2):55-60	Association of HLA-DR, -DQ Genotype and CTLA-4 Gene Polymorphism with Graves' Disease in Japanese Children		142857	24711	2	2005	 the association of HLA-DRB1 and DQB1 genotype with susceptibility to childhood onset GD differs from that in adult onset GD, whereas the association between CTLA-4 gene polymorphism and childhood onset GD is similar to that in adult onset GD in Japanese individuals, but the association is weak.	Control healthy controls;Case:43 Japanese Graves' disease patients										
139985		Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Petrone, A.  et al. 2005	15785242				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Thyroid. 2005 Mar;15(3):232-8	CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population.		142857	24712	2	2005	These results highlight the role of the CTLA-4 locus, in addition to HLA, in the susceptibility to GD. Inside the CTLA-4 region, CT60 appears to be the most associated polymorphism to GD, however, further studies are needed to identify the etiologic variant.	Case:150 patients with Graves' disease;Control:301 controls matched for age and gender										
139986		diabetes, type 1; thyroid disease, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	6	6p21.3	HLA-DRB1	32593131	32665559			16352685				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of clinical endocrinology and metabolism. 2005	The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multi-centercollaborative study in Japan		142857	24713	2	2005	 Given the high frequency of AITD in patients with type 1 diabetes, these data suggest the possibility that the association of CTLA4 with type 1 diabetes in previous studies may have been secondary to AITD, suggesting the importance of subclassification of type 1 diabetes relative to AITD in genetic studies.											
139987	Y	thyroiditis, Hashimoto's	IMMUNE	IMM	Thyroiditis, Autoimmune	6	6p21.3	HLA-DRB1	32593131	32665559		Petrone, A.  et al. 2001	11288988				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Thyroid. 2001 Feb;11(2):171-5	Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population		142857	24714	2	2001	These data suggest that these two polymorphic sites at CTLA-4 do not play a major role in the susceptibility of the disease in an Italian population while female gender, age over 50 years, HLA DRB1*04-DQB1*0301 haplotype increase the risk of developing HT.	Case:126 patients with Hashimoto's thyroiditis Italy-Lazio region;Control:301 control subjects Italy-Lazio region										
139989		beta cell autoimmunity	IMMUNE	IMM	Autoimmune Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Hermann, R.  et al. 2005	16025255				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Finland	CDC GDPinfo	3123	Hs.534322			Diabetologia. 2005 Sep;48(9):1766-75	The effect of HLA class II, insulin and CTLA4 gene regions on the development of humoral beta cell autoimmunity.		142857	24716	2	2005												
139990	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Bittencourt, P. L.  et al. 2003	12911663				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Journal of gastroenterology and hepatology. 2003 Sep;18(9):1061-6	Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis.		142857	24717	2	2003	 Susceptibility to PBC in Brazil is not associated with HLA-DR and DQ antigens and CTLA-4 genotypes. TNFA alleles were not shown to influence disease progression.	Case primary biliary cirrhosis patients;Control healthy controls										
139991	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Anaya, J. M.  et al. 2002	12077712				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Colombian	Colombia	CDC GDPinfo	3123	Hs.534322			Seminars in arthritis and rheumatism. 2002 Jun;31(6):396-405	TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjogren's syndrome.		142857	24718	2	2002	 The data show genetic evidence suggesting that, in Colombians, a region immersed or in the vicinity in the HLA class II system is strongly associated with a predisposition to acquire pSS, which is probably located between the TAP2 and HLA-DQB1 locus. Our results confirm that the HLA-DRB1*0301-DQB1*0201 haplotype participates in the pathogenesis of pSS.	Case:73 Colombian patients with primary Sjogren's syndromec:(95% women);Control:76 healthy controls										
139992		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Loiseau, P.  et al. 2001	11423179				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jul;62(7):725-31	HLA class I and class II are both associated with the genetic predisposition to primary Sj????gren syndrome.		142857	24719	2	2001	The novel association of HLA class I alleles with susceptibility to pSS provides new insights to the genetic predisposition to this disease and subsequently to its physiopathology.	Control:222 healthy unrelated Caucasians;Case:46 pSS patients responding to the European criteria										
139993		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Machulla, H. K.  et al. 2003	14693734				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1438-42	Meningioma: is there an association with humanleukocyte antigens?		142857	24720	2	2003	These associations may be indicative of the involvement of the immune system in the host antitumor surveillance, recognition, and destruction of de novo arising human tumor cells.	Control:157 area- and race-matched healthy controls;Case:81 adult Caucasian patients with symptomatic central nervous system meningiomas										
139994		sporadic inclusion body myositis	UNKNOWN	UNK	Myositis, Inclusion Body|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Price, P.  et al. 2004	15496200				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Nov;64(5):575-80	Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an associationwith HLA-DR3.		142857	24721	2	2004	The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele.	Control:214 ethnically similar controls;Case:42 sporadic inclusion body myositis patients										
139995		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Witt, C. S.  et al. 2002	12542740				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	India|Europe	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Dec;60(6):474-80	Common HLA-B8-DR3 haplotype in Northern India is different from that found in Europe.		142857	24722	2	2002	It was found that the Indian samples represent a conserved haplotype in which all alleles were shared by Indian subjects with HLA-B8 and HLA-DR3, but were different to those that are characteristic of the European 8.1 ancestral haplotype. The Indian and European haplotypes share HLA-B*0801, HLA-DRB1*0301 and HLA-DQB1*02 but differ for subtypes of HLA-Cw*07 and HLA-DRB3 and all central MHC alleles tested. In contrast, Indian subjects selected on the basis of HLA-B58 ( 1-17) and HLA-DR3 shared the same alleles at other MHC loci as have been described in the common Chinese haplotype with HLA-B58/17 and HLA-DR3. A third haplotype, HLA-B50/21 and HLA-DR3, was also found to be highly conserved but shares little in common with the other two HLA-DR3-containing Indian haplotypes.	Cohort individuals from northern India 										
139996		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Slomov, E.  et al. 2003	12878355				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish	Israel	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Aug;64(8):771-9	Pemphigus vulgaris in Jewish patients is associated with HLA-A region genes: mapping by microsatellitemarkers.		142857	24723	2	2003	These results suggest that a gene, or genes in the class I region are important in the initiation of the autoimmune cascade. Activation/suppression of these genes might act as the trigger mechanism that starts the autoimmune destructive process.	Case:38 Jewish pemphigus vulgaris patients;Control:76 healthy controls										
139997		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Falfan-Valencia, R.  et al. 2005	16133177				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human genetics. 2005 Nov;118(2):235-44	Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis.		142857	24724	2	2005												
139998		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dorak, M. T.  et al. 2005	15902698				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.		142857	24725	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
139999		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sanjeevi, C. B.  et al. 2002	12021089				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:107-11	Genetics of latent autoimmune diabetes in adults.		142857	24726	2	2002	These findings suggest that certain genetic markers distinguish LADA better.											
140000		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lopez-Vazquez, A.  et al. 2004	15089899				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Africa, Northern	CDC GDPinfo	3123	Hs.534322			The American journal of gastroenterology. 2004 Apr;99(4):662-7	MHC class I region plays a role in the development of diverse clinical forms of celiac disease in a Saharawi population.		142857	24727	2	2004	 The elevated prevalence of CD in Saharawi seems to be related to the high frequency of HLA-DQ2 in this population. However, the development of atypical or typical forms of the disease may be due to a gene or genes located in the class I side of the haplotype B8/DR3/DQ2, especially MICA. This appears not to be implicated in the susceptibility to CD but may play an important role in the development of the different forms of the disease.	Case:125 celiac disease patients Spanish Sahara;Control:98 healthy controls										
140001	Y	cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bittencourt, P. L.  et al. 2002	12235090				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Gut. 2002 Oct;51(4):609-10	Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.		142857	24728	2	2002	In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues.	Case:63 Brazilian patients with primary sclerosing:cholangitis Sao Paulo, Brazil;Control:83 healthy controls										
140002		HIV	INFECTION	INF	Mycobacterium avium-intracellulare Infection|AIDS-Related Opportunistic Infections|HIV Seropositivity	6	6p21.3	HLA-DRB1	32593131	32665559		Naik, E.  et al. 2003	12794545				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		United States	CDC GDPinfo	3123	Hs.534322			Journal of acquired immune deficiency syndromes (1999). 2003 Jun;33(2):140-5	The complexity of HLA class II (DRB1, DQB1, DM) associations with disseminated Mycobacterium avium complex infection among HIV-1-seropositive whites.		142857	24729	2	2003	Apparent joint effects of DRB1 and DM allelic combinations on occurrence and timing of DMAC suggest that class II disease relationships may be better predicted by biologically plausible interactive combinations than by polymorphisms in individual genes.	Case:176 disseminated Mycobacterium avium complex, HIV-1 seropositive whites from the Multicenter AIDS Cohort study;Control:176:controls										
140003		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Ramal, L. M.  et al. 2001	11260508				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Gypsy, Roma		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Feb;57(2):138-43	HLA class II allele distribution in the Gypsy community of Andalusia, southern Spain		142857	24730	2	2001	In summary our data support the hypothesis of a common anthropological origin of all three European Gypsy groups, which probably split up after their arrival in Europe.	Cohort 80 unrelated Gypsies living in different eastern areas of the Andalusian province Granada, Southern Spain 										
140004		cirrhosis, primary biliary	UNKNOWN	UNK		6	6p21.3	HLA-DRB1	32593131	32665559		Renquin, J.  et al. 2001	11782272				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Oct;58(4):211-22	HLA class II polymorphism in Aka Pygmies and Bantu Congolese and a reassessment of HLA-DRB1 African diversity.		142857	24731	2	2001	Overall, this study shows that natural selection must be taken into account when interpreting the patterns of HLA diversity, but that this effect is probably minor in relation to the stochastic events of human population differentiations.	Cohort two African populations, the Basse Lobaye Aka Pygmies of the Central African Republic, and a Bantu-speaking group from the Democratic Republic of Congo Kinshasa 										
140005		retinopathy, diabetic	UNKNOWN	UNK		6	6p21.3	HLA-DRB1	32593131	32665559		Fu, Y.  et al. 2003	12694588				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Feb;61(2):179-83	HLA-DRB1, DQB1 and DPB1 polymorphism in the Naxi ethnic group of South-western China.		142857	24732	2	2003	The distribution characteristics of the HLA class II alleles revealed that the Naxi ethnic group belonged to the Southern group of Chinese.	Cohort unrelated healthy volunteers from the Naxi ethnic group South-western China 										
140006		immunology study	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2005	15655774				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2005 Feb;191(4):515-9	Human Leukocyte Antigen Class II Alleles and Rubella-Specific Humoral and Cell-Mediated Immunity Following Measles-Mumps-Rubella-II Vaccination		142857	24733	2	2005	This study of HLA class II-restricted humoral and cellular immune responses to rubella provides significant insight into mechanisms of vaccine response and new vaccine development.	Cohort 346 schoolchildren 										
140007		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2005	15712014				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine		142857	24734	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vacine 										
140008		silicosis	IMMUNE	IMM	Silicosis	6	6p21.3	HLA-DRB1	32593131	32665559		Ueki, A.  et al. 2005	15703453				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of occupational health. 2005 Jan;47(1):61-7	Anti-caspase-8 autoantibody response in silicosis patients is associated with HLA-DRB1, DQB1 and DPB1 alleles.		142857	24735	2	2005	Repeated and continuous screening of autoantibodies seems to be necessary among workers in contact with Si-related substances for the detection of immunological disorders in the early stage.	Control:controls;Case silicosis patients	anti-caspase-8 autoantibody response									
140009		cytokine response to measles vaccine	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2005	15712014				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunogenetics. 2005 Feb;56(11):798-807	HLA class II alleles and measles virus-specific cytokine immune response following two doses of measles vaccine.		142857	24736	2	2005	These data suggest that IFN-gamma and IL-4 cytokine responses to measles may be genetically restricted in part by HLA class II genes, which in turn can restrict the cellular immune response to measles vaccine.	Cohort 339 children previously vaccinated with two doses of measles-mumps-rubella vaccine 										
140010		graft acceptance, liver	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Zhou, L.  et al. 2005	15982255				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 Jul;66(1):37-43	Polymorphism of human leukocyte antigen-DRB1, -DQB1, and -DPB1 genes of Shandong Han population in China.		142857	24737	2	2005												
140011		scleroderma	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Gilchrist, F. C.  et al. 2001	11393660				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Great Britain	CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2001 Apr;2(2):76-81	Class II HLA associations with autoantibodies in scleroderma: a highly significant role for HLA-DP.		142857	24738	2	2001	We have identified a significant association between the ATA and HLA-DPB1*1301 which may provide an insight into how this autoantibody is formed. Patient clinical characteristics depend on the autoantibodies they carry.	Case:202 scleroderma patients;Control:307 UK control subjects										
140012		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wassmuth, R.  et al. 2002	12144621				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Swedish	Sweden	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):381-7	HLA class II markers and clinical heterogeneity in Swedish patients with primary biliary cirrhosis.		142857	24739	2	2002	Although a significant disease association was seen for HLA DRB1*08 and DQB1*0402, immunogenetic markers identified neither a particular subset of patients nor an association with the clinical course of the disease. HLA-DRB1*08 and DQB1*0402 provide the strongest immunogenetic influence in PBC. However, this association is not restricted to any particular, clinically defined subgroup of patients and it is not predictive for the course of the disease.	Control:158:controls;Case:99 Swedish primary biliary cirrhosis patients										
140013		allergies	IMMUNE	IMM	Hypersensitivity	6	6p21.3	HLA-DRB1	32593131	32665559		Sakaguchi, M.  et al. 2002	12144625				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):412-6	Analysis of HLA in children with gelatin allergy.		142857	24740	2	2002	We found that DQB1*0303 and DPB1*0402 were positively associated with the IgE response for gelatin, while DRB1*15 was negatively associated with it.	Control:240 unrealted controls;Case:49 patients with gelatin allergy										
140014		lymphoma	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Al-Hussein, K. A.  et al. 2002	12445309				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Sep;60(3):259-61	HLA class II sequence-based typing in normal Saudi individuals.		142857	24741	2	2002	This study represents the first molecular report on the HLA class II allele frequency in the population of Saudi Arabia.	Cohort individuals in the Saudi population Saudi Arabia 										
140015		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Lin, J. H.  et al. 2003	12878363				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Aug;64(8):830-4	Molecular analyses of HLA-DRB1, -DPB1, and -DQB1 in Jing ethnic minority of Southwest China.		142857	24742	2	2003	The comparison of HLA class II allele and haplotype frequencies in Jing with those in other populations all over the world and a dendrogram based on the DRB1, DQB1 and DPB1 genes suggested that Jing ethnic population has an origin of Southeast Asia and is belonged to the southern group of Chinese populations.	Cohort 144 random selected Jing ethnic individuals South China 										
140016		beryllium disease	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Maier, L. A.  et al. 2003	14662898				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of immunology (Baltimore, Md :  1950). 2003 Dec;171(12):6910-8	Influence of MHC class II in susceptibility to beryllium sensitization and chronic beryllium disease.		142857	24743	2	2003	We conclude that  DPB1 Glu69 is a marker of sensitization and not specific for disease. Glu(69) homozygosity acts as a functional marker associated with markers of CBD severity.	Control:125 beryllium-exposed nondiseased individuals;Case:50/104 beryllium disease (n=104) and beryllium:sensitizated (n=50) individuals										
140017		sclerosis, systemic	IMMUNE	IMM	Pulmonary Fibrosis|Scleroderma, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Tikly, M.  et al. 2004	15104683				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	South African	Africa, Southern	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 May;63(5):487-90	Human leukocyte antigen class II associations with systemic sclerosis in South Africans		142857	24744	2	2004	The association of AFAs with class II alleles merits further investigation.	Control:112:controls;Case:52 Black South Africans with systemic sclerosis										
140018	Y	asthma; urticaria	IMMUNE	IMM	Urticaria	6	6p21.3	HLA-DRB1	32593131	32665559		Kim, S. H.  et al. 2005	15784113				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Korea	CDC GDPinfo	3123	Hs.534322			Clinical and experimental allergy. 2005 Mar;35(3):339-44	The human leucocyte antigen-DRB1*1302-DQB1*0609-DPB1*0201 haplotype may be a strong genetic marker for aspirin-induced urticaria.		142857	24745	2	2005	 These findings suggest that the HLA-DRB1(*)1302-DQB1(*)0609-DPB1(*)0201 may be a strong genetic marker to determine the aspirin-induced urticaria phenotype.	Control:185 normal healthy controls;Case:94/76 aspirin-induced urticaria patients presenting urticaria/angioedema-induced by both ASA and NSAID (n=94) and aspirin-intolerant asthmatics (n=76):Korea										
140020		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Marrosu, M. G.  et al. 2005	16096810				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of neurology. 2005	Interaction of loci within the HLA region influences multiple sclerosis course in the Sardinian population.		142857	24747	2	2005												
140021		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Chaudhuri, S.  et al. 2000	11027344				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Proceedings of the National Academy of Sciences of the United States of America. 2000 Oct;97(21):11451-4	Genetic susceptibility to breast cancer: HLADQB*03032 and HLA DRB1*11 may represent protective alleles.		142857	24748	2	2000	HLA DQB*03032 and HLA DRB1*11 alleles may have a protective role in human breast cancer.	Case:176 Caucasian women diagnosed with early-onset breast:cancer;Control:215 ethnically matched controls										
140022		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-DRB1	32593131	32665559		Rossman, M. D.  et al. 2003	14508706				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		United States	CDC GDPinfo	3123	Hs.534322			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor forSarcoidosis in Blacks and Whites		142857	24749	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
140024		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Caliz, R.  et al. 2001	11157139				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2001 Jan;40(1):31-6	HLA class II gene polymorphisms in antiphospholipid syndrome: haplotype analysis in 83 Caucasoidpatients.		142857	24751	2	2001	 These alleles and haplotypes might affect anti-ss2GPI production and APS development in different and heterogeneous fashion.	Control:177 healthy controls;Case:83 Caucasoid British patients with APS										
140025		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Seidl, C.  et al. 2001	11334677				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 May;62(5):523-9	Protection against severe disease is conferred by DERAA-bearing HLA-DRB1 alleles among HLA-DQ3 and HLA-DQ5 positive rheumatoid arthritis patients.		142857	24752	2	2001	These results demonstrate a protective role of (70)DERAA(74)-positive DRB1 alleles against disease severity among RA patients.	Control:196 healthy controls;Case:199 rheumatoid arthritis patients:Germany										
140026	Y	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Castro, F.  et al. 2001	11454644				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Peru	CDC GDPinfo	3123	Hs.534322			Annals of the rheumatic diseases. 2001 Aug;60(8):791-5	Tumour necrosis factor microsatellites and HLA-DRB1*, HLA-DQA1*, and HLA-DQB1* alleles in Peruvian patients with rheumatoid arthritis.		142857	24753	2	2001	 This study shows for the first time that TNF gene polymorphism is associated with susceptibility to RA in a non-white population. TNFalpha6 and HLA-DRB1*1402 independently conferred significantly increased risk in Peruvian mestizo patients.	Control:65 ethnically matched healthy controls;Case:79 patients with rheumatoid arthritis										
140027	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Vargas-Alarcon, G.  et al. 2001	11476905				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican	Mexico	CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Aug;62(8):814-20	Class II allele and haplotype frequencies in Mexican systemic lupus erythematosus patients: therelevance of considering homologous chromosomes in determining susceptibility		142857	24754	2	2001	The results suggest that the DRB1*0301 is the principal class II allele associated with the genetic susceptibility to SLE in Mexican patients and that the presence of a specific haplotype of the homologous chromosome in patients with DRB1*0407-DQA1*03-DQB1*0302 and DRB1*1501-DQA1*0102-DQB1*0602 haplotypes could have an additive effect on the susceptibility to the disease. Finally, the low frequency of the DRB1*0301 and DRB1*1501 alleles in the control population suggests that the genetic admixture between Mexican Indians and Caucasian populations was an event that could have increased the risk of Mexicans to develop SLE.	Case:81 systemic lupus erythematosus Mexican Mestizo:patients:Mexico;Control:99 ethnically matched controls										
140028		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Pimtanothai, N.  et al. 2001	11580849				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Jul;58(1):8-Jan	HLA-DR and -DQ polymorphism in Cameroon.		142857	24755	2	2001	In summary, this study of HLA class II polymorphism in Cameroon demonstrates the extent of diversity in this population.	Cohort 126 healthy individuals Cameroon 										
140029		measles antibody level	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Poland, G. A.  et al. 2001	11672906				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Vaccine. 2001 Nov;20(4-Mar):430-8	Identification of an association between HLA class II alleles and low antibody levels after measles immunization.		142857	24756	2	2001	These findings are crucial in designing both measles eradication by the use of vaccine, and future vaccines to be used in genetically heterozygous populations.	Cohort 242 individuals who received one dose of measles-mumps-rubella-II (MMR-II) vaccine at the age of 15 months 										
140030		cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Amirzargar, A.  et al. 2001	11704285				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Iranian		CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Nov;62(11):1234-8	Human leukocyte antigen class II allele frequencies and haplotype association in Iranian normal population.		142857	24757	2	2001	Data presented in this study suggest that the Iranian population shares some HLA components with populations resident in eastern and southern European countries.	Cohort 100 unrelated Iranian individuals Fars province, Southern Iran 										
140031		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Guillain-Barre Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Li, H.  et al. 2000	11776098				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Chinese medical journal. 2000 May;113(5):429-32	HLA alleles in patients with Guillain-Barre syndrome.		142857	24758	2	2000	 The increasing tendency of the two alleles suggests that there may be some relation between genetic factors and immunological factors, but a definite conclusion waits for more cases.	Case:47 Guillain-Barre syndrom patients;Control:50 normal controls										
140032	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sang, Y.  et al. 2001	11780465				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Chinese medical journal. 2001 Apr;114(4):407-9	Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes.		142857	24759	2	2001	 DRB1 * 0301, DQA1 * 0301 and DQB1 * 0201 confer susceptibility while DQA1 * 0103 and DQB1 * 0601 confer protection to type 1 diabetes. DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.	Case type 1 diabetic children North China;Control not specified in abstract										
140033		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Sanchez-Velasco, P.  et al. 2001	11782273				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Oct;58(4):223-33	The HLA class I and class II allele frequencies studied at the DNA level in the Svanetian population (Upper Caucasus) and their relationships to Western European populations.		142857	24760	2	2001	DRB1*1101-DQA1*0501-DQB1*0301 and DRB1*1301-DQA1*0103-DQB1*0603 haplotypes were found in Svans at the highest frequency. The second most frequent three-locus haplotypes in this population were DRB1*0701-DQA1*0201-DQB1*0201 and DRB1*1301-DQA1*0103-DQB1*0602. Furthermore, the following 5-locus extended haplotypes were not	Cohort Svans Greater Caucasus in the Republic of Georgia 										
140034		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Backman, V. M.  et al. 2002	11914753				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Icelandic	Iceland|Norway	CDC GDPinfo	3123	Hs.534322			Diabetologia. 2002 Mar;45(3):452-3	HLA class II alleles and haplotypes in Icelandic Type I diabetic patients: comparison of Icelandicand Norwegian populations.		142857	24761	2	2002	The results on the distribution of HLA DR and DQ risk alleles, haplotypes and genotypes in Icelandic Type I diabetic patients are in line with previous findings in other Caucasian populations. We have shown that the difference between the incidene of Type 1 diabetes in Iceland and Norway connot be explained solely on the bases of major differences in distribution and frequency of the known HLA class II genes.	Case:106 Icelandic Type 1 diabetic patients:Iceland;Control:148 healthy controls										
140035		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DRB1	32593131	32665559		Schwab, S. G.  et al. 2002	11920855				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			American journal of medical genetics. 2002 Apr;114(3):315-20	Investigation of linkage and association/linkage disequilibrium of HLA A-, DQA1-, DQB1-, and DRB1-alleles in 69 sib-pair- and 89 trio-families with schizophrenia.		142857	24762	2	2002	Our results are not in favor of a direct involvement of the HLA system in development of schizophrenia, but are compatible with the possible existence of a susceptibility gene in the MHC region at chromosome 6p 21.31.	Cohort 69 sib-pair families 										
140036		cervical cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dehaghani, A. S.  et al. 2002	11994765				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Iranian	Iran	CDC GDPinfo	3123	Hs.534322			Pathology oncology research. 2002 ;8(1):58-61	HLA-DQBl alleles and susceptibility to cervical squamous cell carcinoma in Southern Iranian patients.		142857	24763	2	2002	Positive association of cervical carcinoma with a single allele of HLA-DQ provides evidence on the importance of HLA class II molecules and the immune response in squamous cell carcinoma of cervix.	Case:23 Iranian pateints with cervical squamous cell:carcinoma southern Iran;Control:36 healthy Iranian female controls										
140037		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandes, A. P.  et al. 2002	12021129				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:305-8	HLA-DRB1, DQB1, and DQA1 allele profile in Brazilian patients with type 1 diabetes mellitus.		142857	24764	2	2002	Although the Brazilian population is highly miscegenated, HLA-DRB1*301, DRB1*04, DQB1*0302, and DQB1*0201 alleles, which are associated with the development of type 1 diabetes in several Western populations, were also overrepresented in Brazilian patients. In addition to HLA-DRB1*15 and DQB1*0602 alleles, DRB1*11, DRB1*13, and DQA1*01 allele groups were associated with protection against the development of type 1 diabetes in Brazilian patients.	Case:64 Brazilian patients presenting with type 1 diabetes:mellitus:Brasil										
140038	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Parthiban, M.  et al. 2002	12021152				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:412-5	Class II MHC alleles in rheumatoid arthritis in Tamilnadu, India: is there an association?		142857	24765	2	2002	No allele was found to be significantly associated with RA. However DRB1*11 (P = 0.01) and DQB1*0302 (P = 0.02) were significantly associated with rheumatoid factor-positive RA patients. (All the DRB1*11-positive RA patients had either *04 or *10 allele as their second allele. This study is first of its kind in this population.	Case:30 patients with rheumatoid arthritis:Tamilnadu, India;Control:39 healthy controls										
140039	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Nagore, E.  et al. 2002	12125959				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Acta dermato-venereologica. 2002 ;82(2):90-3	Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanoma.		142857	24766	2	2002	Our results indicate that HLA class II alleles may not contribute to a strong susceptibility to melanoma in the Spanish population, although further studies on larger series are needed to corroborate this.	Control:367 random healthy donors, from the same geographic:area;Case:82 Spanish patients with melanoma										
140040	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-DRB1	32593131	32665559		Grubic, Z.  et al. 2002	12137324				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Croatia	CDC GDPinfo	3123	Hs.534322			Collegium antropologicum. 2002 Jun;26(1):61-7	HLA class II haplotypic association and DQCAR microsatellite polymorphisms in Croatian patients with psoriasis.		142857	24767	2	2002	These data suggest that HLA-DRB*0701 haplotypic combinations are associated with type I but not for type II psoriasis in the Croatian population. DQCAR polymorphism is not useful genetic marker to distinguish susceptible HLA class II haplotypic association.	Control:controls;Case:78 Croatian patients with psoriasis										
140041		pemphigoid, bullous	OTHER	OTH	Pemphigoid, Bullous	6	6p21.3	HLA-DRB1	32593131	32665559		Gao, X. H.  et al. 2002	12139680				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	China	CDC GDPinfo	3123	Hs.534322			Clinical and experimental dermatology. 2002 Jun;27(4):319-21	HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China.		142857	24768	2	2002	This result is strikingly different from previous reports that DQB1*0301 is associated with BP in Caucasian patients and DRB1*1101, DQB1*0302, DRB1*04/DQA1*0301/DQB1*0302 and DRB1*1101/ DQA1*0505/DQB1*0302 with Japanese BP patients. Ethnic differences in the polymorphic composition of the HLA-DR and DQ genes may influence genetic susceptibility to BP.	Case:25 bullous pemphigoid patients northern China;Control:57 normal controls										
140042		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Alaez, C.  et al. 2002	12144622				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 May;59(5):388-96	Molecular analysis of HLA-DRB1, DQA1, DQB1, DQ promoter polymorphism and extended class I/class II haplotypes in the Seri Indians from Northwest Mexico.		142857	24769	2	2002	The allele frequency (AF) of the prevalent DRB1 alleles were DRB1*0407 (48.4%), DRB1*0802 (33.9%) and DRB1*1402 (16.1%). The most frequent DQA1 and DQB1 alleles were DQA1*03011 (AF = 50.00%), DQA1*0401 (AF = 33.87%) and DQA1*0501 (AF = 16.13%); DQB1*0302 (AF = 50.00%), DQB1*0402 (33.87%) and DQB1*0301 (16.13%); which were in combination with DRB1*0407, DRB1*0802 and DRB1*1402, respectively.	Cohort 31 unrelated Seri, a Mexican Indian group Sonora (Northwest Mexico) 										
140043		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Vejbaesya, S.  et al. 2002	12358854				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai	Thailand	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2002 Oct;29(5):431-4	Associations of HLA class II alleles with pulmonary tuberculosis in Thais.		142857	24770	2	2002	Our results suggest that HLA-DQB1*0502 may be involved in the development of pulmonary tuberculosis, whereas HLA-DQA1*0601 and DQB1*0301 may be associated with protection against tuberculosis.	Control:160 normal controls;Case:82 patients with tuberculosis:Bangkok										
140044		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Donaldson, P. T.  et al. 2002	12765483				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Autoimmunity. 2002 Dec;35(8):555-64	Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis		142857	24771	2	2002	Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively.	Control:134:controls;Case:148 adult white northern European primary sclerosing cholangitis patients										
140045		rheumatic heart disease	IMMUNE	IMM	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hernandez-Pacheco, G.  et al. 2003	14602216				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican	Mexico	CDC GDPinfo	3123	Hs.534322			International journal of cardiology. 2003 Nov;92(1):49-54	MHC class II alleles in Mexican patients with rheumatic heart disease.		142857	24772	2	2003	 Our data suggest an important participation of Amerindian autochthonous HLA-DR16 (DRB1*1602) allele and DR16-DQA1*0501-DQB1*0301 haplotype as markers for RHD genetic susceptibility in the Mexican Mestizo population. HLA-DR16 allele could also play an important role in determining the pattern of valve damage on these patients.	Case:98 Mexican Mestizo patients with rheumatic heart:disease;Control:99 healthy controls										
140046	N	retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Agardh, E.  et al. 2004	15019597				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of diabetes and its complications. 2004 Jan-Feb;18(1):32-6	HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms do not seem to be risk markers for severe retinopathy in younger Type 1 diabetic patients.		142857	24773	2	2004	Thus, in the present study on a small group with carefully characterised diabetic retinopathy phenotypes, there was no indication that HLA-DRB1, -DQA1, and -DQB1 subtypes or ACE gene polymorphisms were associated with severe retinopathy in younger Type 1 diabetic patients.	Cohort 24 type 1 diabetic patients 										
140047		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandes, A. P.  et al. 2004	15030582				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Scandinavian journal of immunology. 2004 Mar;59(3):305-9	HLA-DQB1 Alleles May Influence the Surface Expression of DQ Molecules in Lymphomononuclear Cells of Type 1 Diabetes Mellitus Patients		142857	24774	2	2004	Although type 1 diabetes patients shared CD4/DQ or CD19/DR phenotype abnormalities, patients typed as DQB1*0201 presented additional abnormalities in terms of DQ expression and cell phenotypes bearing DQ molecules.	Case:20 patients with type 1 diabetes;Control:20 controls matched to patients for age, sex and HLA class II profile										
140048	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kruse, C.  et al. 2004	15070884				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human reproduction (Oxford, England). 2004 May;19(5):1215-21	A study of HLA-DR and -DQ alleles in 588 patients and 562 controls confirms that HLA-DRB103 is associated with recurrent miscarriage		142857	24775	2	2004	 The HLA-DRB1*03 allele or genes in linkage disequilibrium with it confer susceptibility to RM.	Control:202:controls;Case:354 recurrent miscarriage patients										
140049	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandez, O.  et al. 2004	15083289				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Journal of neurology. 2004 Apr;251(4):440-4	DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain		142857	24776	2	2004	 Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1*0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.	Case:149 subjects with multiple sclerosis:Malaga, Spain;Control:160 subjects without multiple sclerosis										
140050	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Jiang, Y. G.  et al. 2004	15231205				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua liu xing bing xue za zhi. 2004 Apr;25(4):337-40	[Study on the polymorphisme of human leucocyte antigen-DRB1, -DQA1 and -DQB1 alleles in patients with hepatitis B]		142857	24777	2	2004	 HLA-DRB1 * 0301, -DQA1 * 0501 and -DQB1 * 0301 were closely associated with the susceptibility to chronic hepatitis B, while HLA-DRB1 * 1101/1104 and -DQA1 * 0301 closely associated with the resistance to chronic hepatitis B. These findings suggested that host HLA class II gene was an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:52/30 patients with chronic hepatitis B (n=52) and patients with acute hepatitis B (n=30)										
140051		hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Zang, G. Q.  et al. 2004	15237447				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			World journal of gastroenterology. 2004 Jul;10(14):2116-8	Curative effects of interferon-alpha and HLA-DRB1 -DQA1 and -DQB1 alleles in chronic viral hepatitis B.		142857	24778	2	2004	 Non-response to interferon-alpha therapy is positively correlated with HLA-DRB1*04 and HLA-DQA1*0303, and negatively correlated with HLA-DQA1*0505 and -DQB1*0301 in patient with chronic viral hepatitis B. HLA II genes of the identification alleles provide a method for evaluating outcome of interferon-alpha treatment.	Cohort 60 patients with chronic viral hepatitis B Shanghai 	interferon									
140052		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Hermann, R.  et al. 2004	15250035				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European	Hungary|Finland|Greece	CDC GDPinfo	3123	Hs.534322			Diabetes. 2004 Jul-Aug;20(4):322-9	Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence.		142857	24779	2	2004	 HLA DR-DQ-based screening is a feasible tool for the identification of individuals at increased genetic risk for type 1 diabetes in populations with diverse genetic background. The risk markers should, however, be individually selected for the target population since the screening efficiency of various markers is highly dependent on the ethnic group studied.	Case:1,739/149/119 patients with childhood-onset type 1 diabetes were recruited from Finland (n = 1739), Hungary (n = 149), and Greece (n = 119):Finland, Greece, Hungary;Control:2,568/1,047/177 Consecutive newborns (from Finland, n=2568 and Greece, n=1047) or healthy schoolchildren (n = 177 from Hungary)										
140053		warts	UNKNOWN	UNK	Papillomavirus Infections|Warts|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Spelten, B.  et al. 2004	15257408				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Archives of dermatological research. 2004 Aug;296(3):105-11	Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts.		142857	24780	2	2004	These results suggest that the natural history of cutaneous HPV 2/27/57-induced common warts may be modulated by allele polymorphisms at the HLA-DQA1 and HLA-DQB1 gene loci.	Case:71 patients presenting with HPV 2/27/57-induced common warts which had persisted for at least 18 months;Control:92 individuals who had never suffered from common warts or whose warts had healed in less than 18:months										
140054	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Amirzargar, A. A.  et al. 2004	15305487				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Iranian	Iran	CDC GDPinfo	3123	Hs.534322			The international journal of tuberculosis and lung disease. 2004 Aug;8(8):1017-21	The association of HLA-DRB, DQA1, DQB1 alleles and haplotype frequency in Iranian patients with pulmonary tuberculosis.		142857	24781	2	2004	 HLA-DRB1*07 and HLA-DQA1*0101 appeared to be the predisposing alleles and HLA-DQA1*0301 and 0501 the protective alleles in our patients with TB.	Control:100 healthy individuals;Case:40 patients with smear-positive pulmonary tuberculosis										
140055		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bejrachandra, S.  et al. 2004	15565951				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai	Thailand	CDC GDPinfo	3123	Hs.534322			Asian Pacific journal of allergy and immunology. 2004 Jun-Sep;22(3-Feb):143-51	HLA class II (DRB1, DQA1 and DQB1) allele and haplotype frequencies among HIV-infection discordant Thai couples.		142857	24782	2	2004	The DRB1*1602-DQA1*0101-DQB1*0502 (4.6% vs 0.0%, p = 0.024) haplotype was found to be significantly higher frequencies in HIV seropositive individuals when compared to HIV negative controls but the DRB1*1502-DQA1*0101-DQB1*0501 (1.5% vs 8.1%, p = 0.049) haplotype was lower.	Cohort 33 Thai HIV discordant couples 										
140056	Y	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	6	6p21.3	HLA-DRB1	32593131	32665559		Mullarkey, M. E.  et al. 2005	15713222				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 Feb;65(2):199-205	Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis.		142857	24783	2	2005	Although the DRB1*08-DQA1*0401-DQB1*04 haplotype was significantly associated with PBC, consistent with other studies, this haplotype nevertheless represented only 19% (14/72) of all PBC patients and can account for only a minority of the risk of PBC.	Control:381 healthy women;Case:72 women with primary biliary cirrhosis										
140057		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Smith, J.  et al. 2005	16049290				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of clinical pathology. 2005 Aug;58(8):860-3	Association of chronic fatigue syndrome with human leucocyte antigen class II alleles.		142857	24784	2	2005	 CFS may be associated with HLA-DQA1*01, although a role for other genes in linkage disequilibrium cannot be ruled out.											
140058		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Altobelli, E.  et al. 2005	16096857				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and experimental medicine. 2005 Jul;5(2):72-9	HLA DR/DQ alleles and risk of type I diabetes in childhood: a population-based case-control study.		142857	24785	2	2005												
140060	Y	renal disease, end stage	UNKNOWN	UNK	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Perez-Luque, E.  et al. 2000	11082516				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican	Mexico	CDC GDPinfo	3123	Hs.534322			Human immunology. 2000 Oct;61(10):1031-8	Contribution of HLA class II genes to end stage renal disease in mexican patients with type 2 diabetes mellitus.		142857	24787	2	2000	Diabetic patients with DRB1*1502 are 8.8 times more likely to develop ESRD, independently of the duration time of DM. DRB1*1502 contributes to the susceptibility to ESRD while DRB1*0407 is involved in protection. The residue at DRB1-74 differs in	Case:42 patients with end stage renal disease;Control:50/101 type 2 diabetes patients with no kidney complications (n=50) and normal controls (n=101)										
140061		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cinek, O.  et al. 2000	11098934				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Norway	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2000 Oct;56(4):344-9	Screening for the IDDM high-risk genotype. A rapid microtitre plate method using serum as source of DNA		142857	24788	2	2000	The prevalence of the DRB1*0401-DQA1*03-DQB1*0302/DRB1*03-DQA1*05-DQB1*0201 genotype among 1,026 Norwegian babies was 2.7% (CI	Cohort babies whose blood was drawn for routine newborn screening for phenylketonuria and hypothyreosis. Norwegian 										
140062		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Lampis, R.  et al. 2000	11115839				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Human molecular genetics. 2000 Dec;9(20):2959-65	The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases.		142857	24789	2	2000	HLA-DRB1-DQA1-DQB1 haplotypes were uniformly distributed in all regions, but at frequencies unique to Sardinia. The validity of these unrelated control HLA haplotype frequencies and our claim of homogeneity were established by demonstrating the near identity of the affected family-based control (AFBAC) HLA haplotype frequencies in 243 type 1 diabetes and 495 multiple sclerosis families from Sardinia and those of the unrelated controls. These results indicate that robust case-control studies can be carried out in Sardinia offering cost efficiency over certain family-based designs.	Control:controls;Case:243/495 type 1 diabetics (n=243) and multiple sclerosis:(n=495) families:Cohort:631 newborns from seven different regions of Sardinia:Sardinia										
140063		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Kwon, O. J.  et al. 2001	11165718				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish	Israel	CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jan;62(1):85-91	Immunogenetics of HLA class II in Israeli Ashkenazi Jewish, Israeli non-Ashkenazi Jewish, and in Israeli Arab IDDM patients		142857	24790	2	2001	These findings support the results obtained in other studies, which point to a genetic relationship between the Israeli and Mediterranean populations.											
140064		graft-versus-host disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Lampis, R.  et al. 2000	11169241				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2000 Dec;56(6):515-21	The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.		142857	24791	2	2000	These results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.	Cohort a large cohort of Sardinian newborns Sardinia 										
140065		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mignot, E.  et al. 2001	11179016				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			American journal of human genetics. 2001 Mar;68(3):686-99	Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups.		142857	24792	2	2001	Together with the recent hypocretin discoveries, these findings are consistent with an immunologically mediated destruction of hypocretin-containing cells in human narcolepsy-cataplexy.	Control:1087 unspecified controls subjects;Case:420 narcoleptic subjects with cataplexy										
140066		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Vos, K.  et al. 2001	11257148				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2001 Feb;40(2):133-9	Evidence for a protective role of the human leukocyte antigen class II region in early rheumatoid arthritis.		142857	24793	2	2001	 The DQ3-DR4/9 haplotypes are associated with RA. The DQ5-DR1/10 haplotypes are associated with less active disease, i.e. UA, and DERAA encoding DRB1 alleles modulate either predisposition to or the severity of RA. We propose that HLA polymorphism influences not only the initiation or perpetuation of RA but also protection against the disease.	Case:195/160 rheumatoid arthritis (n=195) and undifferenciated:arthritis (n=160) patients;Control:306 controls from the same region										
140067	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rasmussen, H. B.  et al. 2001	11424637				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Multiple sclerosis (Houndmills, Basingstoke, England). 2001 Apr;7(2):91-3	Additive effect of the HLA-DR15 haplotype on susceptibility to multiple sclerosis.		142857	24794	2	2001	Our results suggested that the effect of the DRB1*1501,DQA1*0102,DQB1*0602 haplotype on the susceptibility to MS is additive, perhaps reflecting that development of the disease is facilitated by a high density surface expression of the antigen presenting molecules encoded by this haplotype. Possible implications of our finding to future studies of the genetic background of MS is discussed.	studies three North European studies 										
140068		psychological distress	PSYCH	PSY		6	6p21.3	HLA-DRB1	32593131	32665559		Alaez, C.  et al. 2001	11477477				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican		CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2001 Jun;2(4):216-21	DQA1 and DQB1 promoter diversity and linkage disequilibrium with class II haplotypes in Mexican Mestizo population.		142857	24795	2	2001	This knowledge is relevant as a basis to evaluate functional implications and to explore the role of promoter diversity in disease expression.	Cohort 105 healthy unrelated Mexican Mestizos 										
140069	Y	cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Boberg, K. M.  et al. 2001	11495087				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Scandinavian journal of gastroenterology. 2001 Aug;36(8):886-90	The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.		142857	24796	2	2001	 The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development.	Cohort 265 primary sclerosing cholangitis patients from 5 European countries 										
140070		diabetes, type 1; autoimmune diabetes; diabetes, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Gambelunghe, G.  et al. 2001	11502807				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Sweden	CDC GDPinfo	3123	Hs.534322			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3754-60	Two distinct MICA gene markers discriminate major autoimmune diabetes types.		142857	24797	2	2001	Our study provides demonstration of the existence of distinct genetic markers for childhood/young-onset type 1 diabetes mellitus and for adult-onset type 1 diabetes mellitus/latent autoimmune diabetes of the adult, namely major histocompatibility complex class I chain-related A gene 5 and major histocompatibility complex class I chain-related A gene 5.1, respectively.	Control:158 healthy subjects central Italy;Case:195 type 1 diabetic subjects central Italy;Case:80 latent autoimmune diabetic adult subjects central Italy										
140071		insulin response, first phase; insulitis	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cinek, O.  et al. 2001	11678027				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Czech		CDC GDPinfo	3123	Hs.534322			Cas Lek Cesk. 2001 Aug;140(16):492-6	[Prediction of insulin-dependent diabetes mellitus in children of first-degree relatives of diabetic patients]		142857	24798	2	2001	 We present the first IDDM prediction study in the Czech population, emphasising the utility of genetic risk investigation in the prediction scheme.	Cohort 208 non-diabetic children and adolescents, aged 10.0 +/- 5.3 (mean +/- SD), mostly siblings of diabetic children 										
140072		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Smikie, M. = F et al. 2001	11895223				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian	Jamaica	CDC GDPinfo	3123	Hs.534322			Clinical endocrinology. 2001 Dec;55(6):805-8	HLA-DRB3*0101 is associated with Graves' disease in Jamaicans.		142857	24799	2	2001	 Jamaican patients with Graves' disease share the DRB3 *0101 susceptible allele and the DRB4 *01 protective allele but not the susceptible haplotype DRB1 *0301, DRB3*0101, DQA1*0501 with Caucasians.	Control:104 controls not otherwise specified in abstract;Case:106 patients with Graves' disease:Jamaica										
140073		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Price, P.  et al. 2001	11903620				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Immunology and cell biology. 2001 Dec;79(6):602-6	Can MHC class II genes mediate resistance to type 1 diabetes?		142857	24800	2	2001	HLA-DR15 was the most effective marker of resistance, but an effect may be evident with IKBL738*C in a larger study. Moreover, carriage of the entire haplotype was particularly rare in patients. The best explanation for this is that the critical gene lies between IKBL and HLA-DRB1, and is more closely linked to HLA-DRB1. Candidate genes at the centromeric end of the central MHC are reviewed, highlighting the need for further study.	Case type 1 diabetic patients;Control controls not specified in abstract										
140074		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Jaini, R.  et al. 2002	11916167				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Jan;63(1):24-9	Heterogeneity of HLA-DRB1*04 and its associated haplotypes in the North Indian population.		142857	24801	2	2002	These results help to explain the observed variability in DR4 associations in autoimmune diseases in Asian Indians and provide support for scientific and historical documentation of extensive admixture in the Indian subcontinent.	Cohort healthy North Indian population India 										
140075		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Petrone, A.  et al. 2001	11929589				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Dec;58(6):385-94	The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region).		142857	24802	2	2001	We suggest that the HLA DR/DQ haplotype/genotype frequencies observed could in part explain the low incidence of type 1 diabetes registered in Lazio	Case:134 type 1 diabetic patients:Lazio, Italy										
140076		multiple sclerosis; optic neuritis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Uinuk-Ool, T. S.  et al. 2002	11935333				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human genetics. 2002 Mar;110(3):209-26	Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies.		142857	24803	2	2002	The number of alleles per population ranged from 16 to 25, from seven to eight, and from nine to 14 for the DRB1, DQA1, and DQB1 loci, respectively. The alleles at the three loci occurred in 66 different combinations (haplotypes), most of which appeared to be of ancient origin, but some may have arisen within the Siberian populations.	Cohort eight Siberian populations (Mansi, Tuva, Todja, Tofalar, Buryat, Okhotsk Evenki, Ulchi, and Negidal) 										
140077		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	HLA-DRB1	32593131	32665559		Greco, L.  et al. 2002	11950806				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gut. 2002 May;50(5):624-8	The first large population based twin study of coeliac disease.		142857	24804	2	2002	 This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.	Cohort 47 twin pairs 										
140078		inflammatory myopathies	IMMUNE	IMM	Dermatomyositis|Polymyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DRB1	32593131	32665559		Horiki, T.  et al. 2002	11972875				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Jan;59(1):25-30	HLA class II haplotypes associated with pulmonary interstitial lesions of polymyositis/dermatomyositis in Japanese patients		142857	24805	2	2002	These results suggest that in terms of HLA class II association, Japanese DM and PM, and PM with and without PI, belong to different clinical groups.	Control:62 healthy unrelated controls;Case:73 Japanese patients with myositis (32 polymyositis, 18 dermatomyositis, 23 overlapped subsets)										
140079		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Evseeva, I.  et al. 2002	11972877				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Jan;59(1):38-43	HLA profile of three ethnic groups living in the North-Western region of Russia		142857	24806	2	2002	Genetic distances and correspondence analysis show that Pomors have a close relationship with Norwegians and Finns, whereas Nentsy and Saami are more closely related to Oriental populations.	Cohort 55/81/73 individuals from Nentsy (55), Saami (81), and Pomor (73) populations North-European part of Russia 										
140080		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Berzina, L.  et al. 2002	12021131				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Sweden	CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:312-6	Newborn screening for high-risk human leukocyte antigen markers associated with insulin-dependent diabetes mellitus: the ABIS study.		142857	24807	2	2002	We conclude from our results that the high incidence of IDDM in Sweden is at least in part due to increased prevalence of high-risk HLA haplotypes compared to protective haplotypes (20% vs. 13%) in the general population.	Cohort 3756 newborns born in southeast Sweden Sweden 										
140081	Y	diabetes, type 1; blood group incompatibility	IMMUNE	IMM	Blood Group Incompatibility|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Berzina, L.  et al. 2002	12021139				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:345-8	DR3 is associated with type 1 diabetes and blood group ABO incompatibility.		142857	24808	2	2002	We conclude that  DR3 is associated with both the development of type 1 diabetes and ABO incompatibility.	Case:118 children with type 1 diabetes:Linkoping;Control:98 age- and sex-matched unrelated healthy controls										
140082		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kaur, G.  et al. 2002	12121676				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Aug;63(8):677-82	Pediatric celiac disease in India is associated with multiple DR3-DQ2 haplotypes.		142857	24809	2	2002	We conclude that  the high risk DR3 haplotypes that play a crucial role in the development of CD are unique in Asian Indians. Detailed analysis of these haplotypes in Indian patients with autoimmune diseases may help understand the influence of other intervening genes within the major histocompatibility complex.	Control healthy controls;Case:35 North Indian children below 15 years of age and diagnosed to have celiac disease as per the ESPGAN:criteria										
140083		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lobnig, B. M.  et al. 2002	12149602				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetes & metabolism. 2002 Jun;28(3):217-21	HLA-patterns in patients with multiple sclerosis and type I diabetes mellitus: evidence for possiblemutual exclusion of both diseases		142857	24810	2	2002	 These data confirm the hypothesis of mutually exclusive HLA-patterns of T1DM and MS, and are consistent with a low rate of co-morbidity of both diseases.	Case:33 German patients with type 1 diabetes and multiple:sclerosis;Control:33 German patients with multiple sclerosis only										
140084		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Thomson, W.  et al. 2002	12364641				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Great Britain	CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2002 Oct;41(10):1183-9	Juvenile idiopathic arthritis classified by the ILAR criteria: HLA associations in UK patients.		142857	24811	2	2002	 This study categorically demonstrates that there are multiple HLA class II associations with JIA. It has also, for the first time, defined these associations in the seven different ILAR subgroups in UK JIA cases. Although there are a number of common associations, each ILAR subgroup exhibits different patterns of HLA associations, suggesting that the ILAR classification system does define genetically distinct groups of patients.	Case:521 UK Caucasian juvenile idiopathic arthritis patients;Control:537 UK Caucasian controls										
140085		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Perez-Luque, E.  et al. 2003	12507821				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican	Mexico	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Jan;64(1):110-8	Protective effect of DRB1 locus against type 2 diabetes mellitus in Mexican Mestizos.		142857	24812	2	2003	These alleles associated with protection against type 2 diabetes, share glutamic acid at position-74 and were previously demonstrated to contribute to protection against type I diabetes.	Case:47 Mexican Mestizo type 2 diabetic patients central Mexico;Control:87/48 healthy subjects without family history of diabetes (n=87) and healthy subjects with family history:(n=48)										
140086		osteoarthritis	METABOLIC	MET	Osteoarthritis	6	6p21.3	HLA-DRB1	32593131	32665559		Riyazi, N.  et al. 2003	12594107				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Dutch	Netherlands	CDC GDPinfo	3123	Hs.534322			Annals of the rheumatic diseases. 2003 Mar;62(3):227-30	HLA class II is associated with distal interphalangeal osteoarthritis.		142857	24813	2	2003	 The study group is a representative sample of the Dutch population. The HLA-DR2 allele was more common in patients with DIP OA. Furthermore, an inverse relation was observed between DIP OA and HLA-DR4. The results confirm findings from other investigations implicating HLA-DR2 as a risk factor in the development of DIP OA.	Cohort 166 consecutive patients referred to an "Early Arthitis Clinic" with different types of arthritis at an early age 										
140087		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Karell, K.  et al. 2003	12651074				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Europe	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Apr;64(4):469-77	HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results fromthe European Genetics Cluster on Celiac Disease.		142857	24814	2	2003	These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone.	Case:1008 European celiacs										
140088		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Hermann, R.  et al. 2003	12687342				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Finland	CDC GDPinfo	3123	Hs.534322			Diabetologia. 2003 Mar;46(3):420-5	Temporal changes in the frequencies of HLA genotypes in patients with Type 1 diabetes--indication of an increased environmental pressure?		142857	24815	2	2003	Our data suggest that the need for genetic susceptibility to develop Type 1 diabetes has decreased over time due to an increasing environmental pressure and this results in a higher disease progression rate especially in subjects with protective HLA genotypes.	Case:367 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1939-1965:Finland;Case:736 cases diagnosed with childhood-onset Type 1 diabetes during the period of 1990-2001										
140089		autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Alopecia|Diabetes Mellitus, Type 1|Addison Disease|Polyendocrinopathies, Autoimmune|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wallaschofski, H.  et al. 2003	12734793				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Germany	CDC GDPinfo	3123	Hs.534322			Horm Metab Res. 2003 Feb;35(2):120-4	HLA-DQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III.		142857	24816	2	2003	Therefore, our results indicate an association between DQA1*0301 and APS II or III since this allele was otherwise not significantly associated with any of its component diseases except alopecia. Moreover, our data imply that the allele DQA1*0301 is a marker of increased risk for further APS manifestations in patients who suffer from an organ-specific autoimmune disease.	Case:112 unrelated patients with APS II (n = 29), APS III (n:= 83);Case:184 unrelated patients with single-component diseases;Control:72 healthy controls										
140090		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Ellerhorst, J. A.  et al. 2003	12771724				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Journal of urology. 2003 Jun;169(6):2084-8	Heterozygosity or homozygosity for 2 HLA class II haplotypes predict favorable outcomes for renal cell carcinoma treated with cytokine therapy		142857	24817	2	2003	 We conclude that heterozygosity or homozygosity for the class II haplotypes DRB1*0301/DQA1*0501/DQB1*0201 and DRB1*1501/DQA1*0102/DQB1*0602 is associated with durable response and survival in patients with metastatic renal cell carcinoma treated with cytokine therapy.	Cohort 80 patients with metastatic renal cell carcinoma who had received cytokine therapy 	cytokine									
140091	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Metaplasia	6	6p21.3	HLA-DRB1	32593131	32665559		Russo, A.  et al. 2003	12921878				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Nutrition (Burbank, Los Angeles County, Calif). 2003 Sep;19(9):708-15	Human Leukocyte Antigen Class II Genes and Helicobacter pylori Infection: Does GenotypeOverwhelm Environmental Exposure?		142857	24818	2	2003	 These findings suggested that H. pylori infection is not influenced by a genetic compound and confirmed the relevance of environmental exposure.	Case:68 subjects with histologically confirmed H. pylori and intestinal metaplasia;Control:70 healthy subjects without H. pylori (controls) matched for age, sex, and year of birth										
140092		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Klitz, W.  et al. 2003	12974796				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European American		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Oct;62(4):296-307	New HLA haplotype frequency reference standards:high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans.		142857	24819	2	2003	The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans.	Cohort 1,899 unrelated European American individuals 										
140093	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Jiang, Y. G.  et al. 2003	14562382				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			World journal of gastroenterology. 2003 Oct;9(10):2221-5	Association between HLA class II gene and susceptibility or resistance to chronic hepatitis B.		142857	24820	2	2003	 HLA-DRB1*0301, HLA-DQA1*0501 and HLA-DQB1*0301 are closely related with susceptibility to chronic hepatitis B, and HLA-DRB1*1101/1104 and HLA-DQA1*0301 are closely related with resistance to chronic hepatitis B. These findings suggest that host HLA class II gene is an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:54/30 patients with chronic (n=54) and acute (n=30) hepatitis B										
140094		hypersomnolence	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Peled, N.  et al. 2002	14592217				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish		CDC GDPinfo	3123	Hs.534322			Sleep medicine. 2002 May;3(3):267-70	DRB1*1502-DQB1*0601-DQA1*0103 and DRB1*04-DQB1*0302 in Jewish hypersomnolent patients.		142857	24821	2	2002	 This is the first report describing the haplotype DRB1*1502, DQB1*0601, DQA1*0103 in narcoleptic patients (non-cataplectic). This haplotype is close but different from the already known narcoleptic haplotype DRB1*1501, DQA1*0102, DQB1*0602. We assume that this haplotype represents a variant of non-cataplectic narcolepsy rather than association with hypersomnolence. However, in order to conclude whether this haplotype is a marker for the lack of cataplexy, or represents a variant of non-cataplectic narcolepsy, a larger group of patients should be investigated.	Cohort 20 healthy Jewish patients (age 23.9+/-6.3 years; 13 Ashkenazi, seven non-Ashkenazi) who had objective measures of hypersomnolence 										
140095		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kanga, U.  et al. 2004	14700595				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Jan;65(1):47-53	HLA haplotypes associated with type 1 diabetes mellitus in north indian children		142857	24822	2	2004	The study highlights the race specificity of HLA association and disease associated HLA haplotypes in T1DM among North Indian Children.	Control:controls;Case type 1 diabetic children North India										
140096		H. pylori infection; Helicobacter pylori infection	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559			14964841				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian		CDC GDPinfo	3123	Hs.534322			Genetika. 2003 Dec;39(12):1710-8	[In Process Citation]		142857	24823	2	2003	Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.	Cohort 31 Aleuts of the Commanders whose ancestors inhabited the Commander Islands for many thousand years Alaska 										
140097	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Shinomiya, N.  et al. 2004	15003812				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			Clinical immunology (Orlando, Fla). 2004 Feb;110(2):154-8	A variant of childhood-onset myasthenia gravis: HLAtyping and clinical characteristics in Japan		142857	24824	2	2004	These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303.	Control healthy controls;Case:87 Japanese patients with childhood-onset myasthenia:gravis:Japan										
140098		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Uinuk-Ool, T. S.  et al. 2004	15009181				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2004 Feb;31(1):43-51	Variation of HLA class II genes in the Nganasan and Ket, two aboriginal Siberian populations		142857	24825	2	2004	The distribution patterns and comprehensive phylogenic analysis based on the haplotype frequencies of 17 Siberian populations suggest that the founders of both the Ket and the Nganasan came from Palaeolithic populations in the Altai-Sayan Upland.	Cohort individuals from the Nganasan and Ket aboriginal Siberian populations northern Siberia 										
140099	N	diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Cinek, O.  et al. 2001	15016191				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Czech		CDC GDPinfo	3123	Hs.534322			Pediatric diabetes. 2001 Sep;2(3):98-102	HLA class II genetic association of type 1 diabetes mellitus in Czech children.		142857	24826	2	2001	Since none of the remaining DRB1*04 subtypes was associated with type 1 DM, our study may present another piece of evidence that the DRB1*0401 and DRB1*0404 alleles do not modify type 1 diabetes risk generally in European populations.	Case:261 Czech children with type 1 diabetes;Control:289 non-diabetic control children										
140100		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hermann, R.  et al. 2004	15049049				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Hungary	CDC GDPinfo	3123	Hs.534322			Orvosi hetilap. 2004 Feb;145(7):337-42	[In Process Citation]		142857	24827	2	2004	 Using HLA DRB1-DQA1-DQB1 markers predictive genetic screening for type 1 diabetes is feasible in the Hungarian population with high diagnostic sensitivity and specificity. At present, such a screening for individuals at risk for type 1 diabetes in the general population is recommended only as part of prospective studies on the natural history or prevention of disease. To increase the positive predictive value of the model, pancreas beta-cell autoantibodies need to be measured and followed in the high-risk cohort.	Case:149 consecutively diagnosed children with type 1:diabetes;Control:177 randomly selected healthy schoolchildren										
140101		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Boon, M.  et al. 2004	15300424				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Netherlands	CDC GDPinfo	3123	Hs.534322			Human genetics. 2004 Sep;115(4):280-4	Inheritance mode of multiple sclerosis: the effectof HLA class II alleles is stronger than additive		142857	24828	2	2004	This susceptibility locus for MS seems to follow an intermediate mode of inheritance. Fitting additive, multiplicative and third power risk models to the data, the effect appears to be significantly stronger than additive.	Cohort 124 multiple sclerosis patients with ancestry within the northeastern part of the Netherlands 										
140102	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Ayed, K.  et al. 2004	15310011				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Tunisian	Tunisia	CDC GDPinfo	3123	Hs.534322			Annals of Saudi medicine. 2004 Jan-Feb;24(1):31-5	The involvement of HLA -DRB1*, DQA1*, DQB1* and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians.		142857	24829	2	2004	 The MHC class II alleles (DRB1, DQA1, DQB1) and C4 null associations noted in other ethnic groups are also found in Tunisians, suggesting shared susceptibility factors across ethnic lines in predisposition to SLE. In contrast to other ethnic groups, MHC class II alleles are not associated with the presence of specific autoantibodies in Tunisian SLE patients.	Control:100 matched controls;Case:62 Tunisian systemic lupus erythematosus patients										
140103		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Laivoranta-Nyman, S.  et al. 2004	15479890				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish	Finland	CDC GDPinfo	3123	Hs.534322			Annals of the rheumatic diseases. 2004 Nov;63(11):1406-12	HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis.		142857	24830	2	2004	 When assessing the influence of HLA genes on the susceptibility to rheumatoid arthritis, not only should the HLA-DR or -DQ alleles or haplotypes be unravelled but also the genotype. The effect of HLA class II region genes is more complicated than any of the existing hypotheses can explain.	Control:1,244 artificial family based control haplotypes;Case:322 Finnish patients with rheumatoid arthritis										
140104		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gillespie, K. M.  et al. 2004	15530631				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Lancet. 2004 Nov;364(9446):1699-700	The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes.		142857	24831	2	2004	The proportion of high-risk susceptibility genotypes was increased in the earlier cohort (p=0.003), especially in those diagnosed at age 5 years or younger, which is consistent with the hypothesis that the rise of type 1 diabetes is due to a major environmental effect.	Case:194 type 1 diabetic patients diagnosed more than 50 years ago;Control:582 age-matched and sex-matched individuals										
140105	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Scleroderma, Diffuse|Scleroderma, Limited	6	6p21.3	HLA-DRB1	32593131	32665559		Loubiere, L. S.  et al. 2004	15572392				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2005 Mar;44(3):318-22	HLA allelic variants encoding DR11 in diffuse and limited systemic sclerosis in Caucasian women.		142857	24832	2	2004	 An increase of DRB1*11 in SSc is consistent with other reports. Although present in both diffuse and limited SSc disease subsets, the increase was predominantly due to over-representation of DRB1*1104 in women with diffuse SSc. Women with limited SSc had a preponderance of DRB1*1101, the most common allele in healthy women. DRB1*1104 and DRB1*1101 differ by a single amino acid at position 86, where the former has valine and the latter glycine.	Case:102 women with sytemic sclerosis;Control:533 healthy women										
140106		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Zung, A.  et al. 2004	15603874				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish	Ethiopia|Israel	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Dec;65(12):1463-8	Type 1 diabetes in Jewish Ethiopian immigrants in Israel: HLA class II immunogenetics andcontribution of new environment.		142857	24833	2	2004	We concluded that ongoing exposure of genetically predisposed immigrants from Ethiopia to diabetogenic environmental factors eventually leads to a high incidence of overt diabetes in this ethnic group.	Control:119 unrelated controls;Case:33 Ethiopian Jews living in Israel with type 1:diabetes:Israel										
140107		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hallioglu, O.  et al. 2005	15789899				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Turkish	Turkey	CDC GDPinfo	3123	Hs.534322			Clinical and experimental rheumatology. 2005 Jan-Feb;23(1):117-20	DRB1, DQA1, DQB1 genes in Turkish children with rheumatic fever.		142857	24834	2	2005	 Our data indicate that the HLA DQA1*03 allele may be a protecting factor in Turkish children with RF. Our results also suggest that the combination of the DRB1*04 and DQA1*03 alleles may be a stronger protective factor than the DQA1*03 allele alone.	Control:50 unrelated healthy controls;Case:55 children with rheumatic fever:Turkey										
140108	Y	allergy	IMMUNE	IMM	Cough|Respiratory Hypersensitivity|Agricultural Workers' Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Suzuki, K.  et al. 2005	15853900				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 May;65(5):459-66	HLA class II DPB1, DQA1, DQB1, and DRB1 genotypic associations with occupational allergic cough to Bunashimeji mushroom.		142857	24835	2	2005	The HLA-DRB1*0803 allele alone, the DRB1*0803, DQA1*0103, DQB1*0601 haplotype, or both were negatively associated with allergy to Bunashimeji, and these alleles might be involved in the prevention of Bunashimeji mushroom-specific respiratory allergy.	Cohort workers in a Bunashimeji mushroom (Hypsizigus marmoreus) farm 										
140109		ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Monos, D. S.  et al. 2005	15935893				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 May;66(5):554-62	Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancer.		142857	24836	2	2005	Therefore, it appears that the presence of DQalpha susceptibility elements overrides the protective effect of the DRbetaD(70)E(71) epitope and suggests an interactive relationship between DRbeta and DQalpha epitopes that may be of importance for disease susceptibility. Because positions DRbeta 70,71 and DQalpha 52 have been implicated in immunologic diseases, it is likely that besides being critical for T-cell recognition, they may also play a role in T-cell development and acquisition of the T-cell repertoire.	Case:47 patients with epithelial ovarian cancer;Control:67 healthy Caucasian women										
140110		pregnancy loss, recurrent	REPRODUCTION	REP	Pregnancy Complications|Abortion, Habitual|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hviid, T. V.  et al. 2005	15993714				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Jun;66(6):688-99	Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease.		142857	24837	2	2005												
140111		bee venom allergy	IMMUNE	IMM	Hypersensitivity, Immediate	6	6p21.3	HLA-DRB1	32593131	32665559		Sanchez-Velasco, P.  et al. 2005	16112029				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Spain	CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Jul;66(7):818-25	Sensitivity to bee venom antigen phospholipase A2:association with specific HLA class I and class II alleles and haplotypes in beekeepers and allergic patients.		142857	24838	2	2005												
140113		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559			16390391				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Pediatric diabetes. 2005 Dec;6(4):221-9	Slowly progressing form of type 1 diabetes mellitus in children: genetic analysis compared with otherforms of diabetes mellitus in Japanese children		142857	24840	2	2005	 HLA phenotypes and genotypes in patients with IDDMS were different from those in NIDDM and control subjects and were closer to those of IDDMA. Together with a low prevalence of HLA-A24, the genetic features are similar to those of SPIDDM and latent autoimmune diabetes in adults (LADA) in adults. In our series, the clinical features such as lack of obesity and lack of responsiveness to oral hypoglycemic agents were most different from those of adults' onset.											
140114		hepatitis type 1, autoimmune (AIH-1)	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Goldberg, A. C.  et al. 2001	11182227				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Feb;62(2):165-9	Analysis of HLA haplotypes in autoimmune hepatitis type 1: identifying the major susceptibility locus.		142857	24841	2	2001	We propose that peptide presentation leading to pathogenesis of AIH-1 may be quite stringent, but will also be affected by other strong genetic or environmental susceptibility factors, which would explain the various HLA molecules associated to the disease in the different populations.	Control:22:controls;Case:39 patients with autoimmune hepatitis type I										
140115		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Stephens, H. A.  et al. 2000	11082517				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai		CDC GDPinfo	3123	Hs.534322			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.		142857	24842	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
140116		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Galeazzi, M.  et al. 2002	11997714				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.		142857	24843	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
140117		HIV; sclerosis, systemic	INFECTION	INF	Sjogren's Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Nakken, B.  et al. 2001	11555411				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Norway	CDC GDPinfo	3123	Hs.534322			Scandinavian journal of immunology. 2001 Oct;54(4):428-33	Associations of MHC class II alleles in Norwegian primary Sjogren's syndrome patients: implicationsfor development of autoantibodies to the Ro52 autoantigen.		142857	24844	2	2001	This study shows that the production of anti-Ro52 autoantibodies in pSS is associated with the DRB1*0301, DRB3*0101, DQA1*0501 and DQB1*0201 alleles which are in strong linkage disequilibrium.	Case a group of primary sjogren's syndrome patients:Norway;Control a group of healthy controls										
140118		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Zabay Becerril, J. M.  et al. 2004	14752708				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Revista de neurologia. 2004 Jan;38(2):118-22	[The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands:the influence exerted by sex]		142857	24845	2	2004	 The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.	Control:107 controls from a similar ethnic origin;Case:43 individuals with clinically defined MS Balearic Islands, Spain										
140119		jaundice	METABOLIC	MET	Jaundice	6	6p21.3	HLA-DRB1	32593131	32665559		O'Donohue, J  et al. 2000	11034591				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gut. 2000 Nov;47(5):717-20	Co-amoxiclav jaundice: clinical and histologicalfeatures and HLA class II association.		142857	24846	2	2000	 Co-amoxiclav associated hepatotoxicity may have a genetic basis and be delayed, severe, and prolonged, although complete recovery is usual.	Cohort 22 Jaundice cases after co-amoxiclav use west of Scotland 1991-1997 	co-amoxiclav									
140120		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Aguilera, E.  et al. 2005	15660729				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetic medicine. 2005 Feb;22(2):137-43	Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.		142857	24847	2	2005	In a non-paediatric population with newly diagnosed T1D, the absence of islet antibodies does not imply clinical or metabolic differences when compared with those cases with islet antibodies. Despite a similar HLA-DR/DQ typing, the presence of protective alleles and molecular properties in a higher proportion in the Ab neg group suggests that these factors could modulate the presence or absence of islet antibodies. Variants in HNF-1alpha and HNF-4alpha are unlikely to be major contributors to the pathogenesis of diabetes in antibody-negative T1D.	Control:20 diabetic patients without pancreatic autoantibodies;Case:20 diabetic patients with pancreatic autoantibodies										
140121		Chagas Disease	INFECTION	INF	Chagas Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Moreno, M.  et al. 2004	15191519				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		142857	24848	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
140122		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Parks, C. G.  et al. 2004	15219382				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Southeastern United States	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		142857	24849	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries										
140123		cirrhosis, primary biliary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Donaldson, P.  et al. 2001	11171832				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gut. 2001 Mar;48(3):397-402	HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with diseaseprogression and disease susceptibility.		142857	24850	2	2001	 These data indicate a complex relationship between immunoregulatory genes and PBC. While the IL-1 genes are markers of both disease susceptibility and progression, HLA genes appear to be principally associated with disease progression.	Cohort 164 well characterised chirrhosis patients 										
140124		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Nikitina-Zake, L.  et al. 2004	15699512				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Latvia	CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		142857	24851	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes										
140125		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Chronic Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Airoldi, A.  et al. 2004	15548263				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European		CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2004 Dec;31(6):259-65	Lack of a strong association between HLA class II, tumour necrosis factor and transporter associated with antigen processing gene polymorphisms and virological response to alpha-interferon treatment in patients with chronic hepatitis C.		142857	24852	2	2004	Thus, in European Caucasoids with chronic hepatitis C, we could not demonstrate a strong association between HLA class II, TNF, and TAP gene polymorphisms and response to interferon treatment.	Control:27 sustained responders to alpha-interferon:monotherapy;Case:55 European Caucasian non-responders to alpha-interferon monotherapy	interferon									
140126		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gambelunghe, G.  et al. 2004	15522921				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology (Oxford, England). 2005 Mar;44(3):287-92	Contribution of MHC class I chain-related A (MICA) gene polymorphism to genetic susceptibility for systemic lupus erythematosus.		142857	24853	2	2004	 Our study provides the first demonstration of the independent association of the MICA gene polymorphism with genetic risk of SLE.	Control:158 healthy controls;Case:48 Italian systemic lupus erythematosus patients										
140127		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Cesari, M.  et al. 2004	15336779				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Aug;65(8):783-93	Is TAP2*0102 allele involved in insulin-dependent diabetes mellitus (type 1) protection?		142857	24854	2	2004	In contrast with other alleles, and despite a HRR value close to 1, we show that TAP2*0102 allele contributes significantly to a drastic reduction of the diabetogenic effect of DQB1*0201-DQA1*0301.1-DRB*0701 haplotype. Indeed, this haplotype, which is usually preferentially transmitted to affected children, is dominantly transmitted to healthy children when it is associated with TAP2*0102. Therefore, this allele seems to contribute to genetic protection to IDDM.	Cohort 70 patients with insulin-dependent diabetes mellitus (IDDM) 										
140128		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Hoarau, J. J.  et al. 2003	12786999				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	African	India|Reunion	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2003 Jun;30(3):207-11	Comparison of TAP2 frequencies in type 1 diabetes patients and healthy controls from three ethnic groups indicates an African origin for the TAP2 G allele.		142857	24855	2	2003	This observation is consistent with the view that this allele is restricted to populations of African origin. In addition, we have determined the large extended haplotype DQA1-DQB1-DRB1 associated with TAP2 G. We found that this allele is preferentially associated with the large conserved haplotype HLA DQA1*0501-DQB1*0201-DRB1*0301.	Case type 1 diabetic patientsof three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius);Control unrelated healthy controls of three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius)										
140129		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Bertolaccini, M. L.  et al. 2001	11246532				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Thrombosis and haemostasis. 2001 Feb;85(2):198-203	Plasma tumor necrosis factor alpha levels and the -238*A promoter polymorphism in patients with antiphospholipid syndrome.		142857	24856	2	2001	 Raised plasma TNFalpha levels were found in patients with APS. As a prothrombotic and proinflammatory cytokine, TNFalpha may be involved in the development of clinical features of APS. The lack of correlation between the TNFA-238 polymorphism and plasma levels associated with disease suggests that the TNF genetic marker may only indirectly relate to protein levels by virtue of allelic association with a functional marker which may reside in the HLA class II region.	Case:83 Caucasoid patients with antiphospholipid syndrome;Control:95 ethnically matched healthy controls										
140130	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kitawaki, J.  et al. 2002	12392856				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2002 Nov;63(11):1033-8	Association of HLA class I and class II alleles with susceptibility to endometriosis		142857	26169	2	2002	Therefore, our results indicated that the HLA-A24-B*0702-Cw*0702-DRB1*0101 haplotype was associated with endometriosis susceptibility. Our findings may provide an important clue to elucidating the pathogenesis of endometriosis.	Case:123 Japanese patients with endometriosis;Control:165 healthy women										
140131		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ma, H. J.  et al. 2004	15321756				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Di yi jun yi da xue xue bao. 2004 Aug;24(8):900-3	[HLA-Cw alleles polymorphism and haplotypes in Guangdong Han population]		142857	26170	2	2004	 HLA-Cw alleles have richer polymorphisms and their linkage disequilibrium with HLA-A, B, DRB1 exhibits geographic genetic characteristics.	Cohort 185 bone marrow donors 										
140132	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	6	6p21.3	HLA-DRB1	32593131	32665559		Grubic, Z.  et al. 2004	15554365				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Croatia	CDC GDPinfo	3123	Hs.534322			Reumatizam. 2004 ;51(1):11-May	[The distribution of HLA alleles class I and class II among patientes with psoriatic arthritis in Croatia]		142857	26171	2	2004	The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B* 13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients.	Cohort 58 psoriatic arthritis patients (28 male and 30 female) Croatia 										
140133		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559			16362110				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):32-3	[HLA-class I and II genotyping in sarcoidosis patients.]		142857	26172	2	2005												
140134		pulmonary hypertension; thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Embolism|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tanabe, N.  et al. 2005	15640334				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			The European respiratory journal. 2005 Jan;25(1):131-8	Association of clinical features with HLA in chronic pulmonary thromboembolism		142857	26173	2	2005	These observations suggested that both the susceptibility and clinical characteristics of chronic thromboembolic pulmonary hypertension were controlled in part by the HLA-B and -DPB1 loci.	Control:678:conrols;Case:80 Japanese patients with chronic thromboembolic pulmonary hypertension										
140135		measles	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2004	15121303				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Vaccine. 2004 May;22(15-16):1914-20	Associations between human leukocyte antigen (HLA) alleles and very high levels of measles antibody following vaccination.		142857	26174	2	2004	These data increase our understanding of measles vaccine-induced immune response and will be useful for future mechanistic work on measles virus antigen processing and presentation in seronegative and hyperseropositive individuals.	Cohort 170 US schoolchildren who received one dose of measles-mumps-rubella II vaccine US 										
140136		cholangitis, sclerosing	METABOLIC	MET	Cholangitis, Sclerosing	6	6p21.3	HLA-DRB1	32593131	32665559		Neri, T. M.  et al. 2003	14567462				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDPinfo	3123	Hs.534322			Digestive and liver disease. 2003 Aug;35(8):571-6	Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.		142857	26175	2	2003	 These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries.	Control:183 normal controls of the same population;Case:64 primary sclerosing cholangitis patients Northern Italy										
140137		HIV; cytomegalovirus retinitis	INFECTION	INF	Cytomegalovirus Retinitis|Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		De Lourdes Veronese Rodrigues, M.  et al. 2003	14510801				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Acta ophthalmologica Scandinavica. 2003 Oct;81(5):514-6	Frequency of HLA class 1 and 2 alleles in Brazilian patients with AIDS and cytomegalovirus retinitis.		142857	26176	2	2003	 There was no association between HLA molecules/alleles and CMV-R in Brazilian patients with AIDS. However, the results support the role of the HLA system in the susceptibility to developing AIDS.	Case Brazilian patients with AIDS and cytomegalovirus:retinitis;Control:controls										
140138		myositis, sporadic inclusion-body	OTHER	OTH	Myositis, Inclusion Body	6	6p21.3	HLA-DRB1	32593131	32665559		Lampe, J. B.  et al. 2003	14648147				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of neurology. 2003 Nov;250(11):1313-7	Analysis of HLA class I and II alleles in sporadic inclusion-body myositis.		142857	26177	2	2003	After Bonferroni adjustment, we found a significant increase in frequency of the following HLA alleles for s-IBM patients when compared with normal	Control German controls;Case:47 patients suffering from sporadic inclusion body:myositis										
140139		nut allergy	IMMUNE	IMM	Nut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hand, S.  et al. 2004	15144462				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and experimental allergy. 2004 May;34(5):720-4	Human leucocyte antigen polymorphisms in nut-allergic patients in South Wales.		142857	26178	2	2004	 At HLA '2-digit resolution' and with undifferentiated patients with nut allergy, there are no major disturbances in the frequency of HLA-A, B, DRB1 or DQB1 types. However, the difference in frequency of HLA-DRB1(*)11 between the nut allergy patients and the atopic controls merits further investigation as this may represent an important phenotypic relationship.	Control:82/1798 atopic non-nut-allergic subjects (n=82) and random blood donors (n=1,798);Case:84 patients presenting at the allergy clinic with symptoms of nut allergy										
140140		diabetes, type 2; alveolitis, extrinsic allergic	METABOLIC	MET		6	6p21.3	HLA-DRB1	32593131	32665559		Monte, S. J.  et al. 2004	15666025				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian		CDC GDPinfo	3123	Hs.534322			Rev Assoc Med Bras. 2004 Oct-Dec;50(4):422-6	[HLA polymorphism in a racially admixed sample of the population of Teresina, Piau????]		142857	26179	2	2004	 The genetic composition of Teresina's racially admixed is predominantly bi-hybrid of genes originated from Blacks and Caucasians with little contribution from Amerindian genes.	Cohort 97 unrelated healthy racially admixed people of Teresina Teresina, Piaui 										
140141		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lombardi, M. L.  et al. 2001	11423176				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jul;62(7):701-4	Crohn disease: susceptibility and diseaseheterogeneity revealed by HLA genotyping.		142857	26180	2	2001	A positive association with the rare haplotype DRB1*07, DQB1*0303, and a protective effect of the haplotype DRB1*03, DQB1*0201, were found in Crohn's disease patients. Variability of the HLA alleles frequency in CD subgroups was observed, supporting the hypothesis of a genetic heterogeneity of the disease and suggesting that HLA alleles distribution in selected groups may allow to identify patients with probably different prognosis or associated complications.	Cohort 107 patients with Crohn's disease 										
140142		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Zivadinov, M. D. = PhD R et al. 2003	14504973				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of neurology. 2003 Sep;250(9):1099-106	HLA genotypes and disease severity assessed by magnetic resonance imaging findings in patients with multiple sclerosis.		142857	26181	2	2003	The study findings suggest that some HLA alleles may predict the destructive pathological processes visible on MRI. Since the size of the sample studied is relatively small, further studies are needed to draw any firm conclusion about genotype/phenotype correlation in patients with MS.	Case:100 patients with multiple sclerosis;Control:122 age, sex-, ethnic- and residence-matched controls										
140143		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	6	6p21.3	HLA-DRB1	32593131	32665559		Shankarkumar, U.  et al. 2002	14686115				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian	India	CDC GDPinfo	3123	Hs.534322			Indian journal of malariology. 2002 Sep-Dec;39(4-Mar):76-82	HLA associations in P. falciparum malaria patients from Mumbai, western India		142857	26182	2	2002	These observations revealed the importance of ethnic background, which has to be taken into consideration while developing an ideal malaria vaccine. Further, when compared to HLA associations of other world populations the present study indicates the relative importance of different HLA alleles that may vary in different populations.	Control:101 normal sex, age, and ethnically matched controls;Case:171 severe P. falciparum malaria patients										
140144		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Translocation, Genetic	6	6p21.3	HLA-DRB1	32593131	32665559		Mundhada, S.  et al. 2004	15202948				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			BMC cancer [electronic resource]. 2004 Jun;4:25	Association of HLA Class I and Class II genes with bcr-abl transcripts in leukemia patients with t(9;22) (q34;q11)		142857	26183	2	2004	 The negative associations of a particular bcr-abl transcript with specific HLA alleles suggests that these alleles play a critical role in presenting peptides derived from the chimeric proteins and eliciting a successful T-cell cytotoxic response. Knowledge of differential associations between HLA phenotypes and bcr-abl fusion transcript types would help in developing better strategies for immunization with the bcr-abl peptides against t(9;22) (q34;q11)-positive leukemia.	Cohort 189 patients of mixed ethnicity with chronic myelogenous leukemia and acute lymphocytic leukemia who were being considered for bone marrow transplantation 										
140146		neuropathy, small fiber	NEUROLOGICAL	NEUR	Autonomic Nervous System Diseases|Sarcoidosis|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Voorter, C. E.  et al. 2005	16053028				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Jun;22(2):129-32	Association of HLA DQB1 0602 in sarcoidosis patients with small fiber neuropathy.		142857	26185	2	2005	 This association might be correlated with a severe course of the disease.											
140147		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-DRB1	32593131	32665559		Crespi, C.  et al. 2002	12472657				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Majorcan		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Oct;60(4):282-91	HLA polymorphism in a Majorcan population of Jewish descent: comparison with Majorca, Minorca, Ibiza(Balearic Islands) and other Jewish communities.		142857	26186	2	2002	The genetic diversity of the populations from Majorca and Minorca were similar and more related to the mainland Spanish population.	Cohort 103/589 random, healthy, unrelated individuals belonging to the ancient Majorcan Jewish community (n=103), and individuals from the Balearic population selected because of their typical Balearic - Majorca, Minorca or Ibiza - lineages (n=589) 										
140149		arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Moxley, G.  et al. 2001	11881821				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian	United States	CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2001 Oct;28(5):539-43	HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians.		142857	26188	2	2001	Thus, neither HLA DMA nor DMB was associated with RA in this population, and not all shared-epitope-bearing haplotypes had the same DMB allele distribution.	Control:263 Caucasian control subjects;Case:288 Caucasian subjects with rheumatoid arthritis:USA										
140150		leukemia, chronic lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Machulla, H. K.  et al. 2001	11291046				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Germany	CDC GDPinfo	3123	Hs.534322			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):203-7	Association of chronic lymphocytic leukemia with specific alleles of the HLA-DR4:DR53:DQ8 haplotypein German patients		142857	26189	2	2001	Our results suggest that factors within or close to the human MHC class II region confer susceptibility to CLL.	Case:101 CLL patients:Germany;Control:157 healthy controls:Germany										
140151		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Moraes, M. E.  et al. 2004	15194283				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian		CDC GDPinfo	3123	Hs.534322			Transplantation proceedings. 2004 May;36(4):823-4	Strong linkage disequilibrium between HLA-B*3913 and DRB1*0807 in Brazilians.		142857	26190	2	2004	Although numbers are small to predict which ethnic groups of the Brazilian population display this haplotype prevalently, it is possible to speculate that these data may have clinical application, such as in the selection of unrelated donors for bone marrow transplantation.	Cohort 2,560 healthy unrelated randomly selected individuals southeastern region of Brazil 										
140152		diabetes, latent autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cosentino, A.  et al. 2002	12021137				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annals of the New York Academy of Sciences. 2002 Apr;958:337-40	CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults.		142857	26191	2	2002	The results of our study show that LADA is positively associated with the CTLA-4 A/G genotype, similarly to T1DM, thus providing further supporting evidence of the autoimmune origin of this form of diabetes mellitus of the adult.	Case:80 latent autoimmune diabetes patients;Control:85 healthy subjects										
140153		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hauache, O. M.  et al. 2005	16276008				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Disease markers. 2005 ;21(3):139-45	Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes.		142857	26192	2	2005												
140154		atherothrombosis	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DRB1	32593131	32665559		Schallmoser, K.  et al. 2005	15735807				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Thrombosis and haemostasis. 2005 Mar;93(3):544-8	The Fc gammaRIIa polymorphism R/H131, autoantibodies against the platelet receptors GPIb alpha and Fc gammaRIIa and a risk for thromboembolism in lupus anticoagulant patients.		142857	26193	2	2005	There was no correlation between the presence of anti-FcgammaRIIa or anti-GPIbalpha autoantibodies and the FcgammaRIIa -R/H131 polymorphism, nor the incidence of TE, nor HLA class II alleles.	Control:27 patients with lupus anticoagulant without thromboembolic disease;Case:46 patients with lupus anticoagulant and thromboembolic disease										
140155	Y	autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hunt, P. J.  et al. 2001	11678832				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDPinfo	3123	Hs.534322			Clinical endocrinology. 2001 Oct;55(4):491-9	Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease.		142857	26194	2	2001	 These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. AIH differs from GD, being less influenced by the MHC region.	Case:215 patients with autoimmune thyroid disease (GD 135, AIH 77);Control:267 control subjects not otherwise specified in:abstract										
140156	Y	preeclampsia	REPRODUCTION	REP	Pregnancy Complications, Infectious|Cytomegalovirus Infections|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Carreiras, M.  et al. 2002	12443029				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			American journal of reproductive immunology (New York, NY :  1989). 2002 Sep;48(3):176-83	Preeclampsia: a multifactorial disease resultingfrom the interaction of the feto-maternal HLA genotype and HCMV infection.		142857	26195	2	2002	 The results suggest that the presence of alleles HLA-G*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of preeclampsia.	Case mothers with preeclampsia and their neonates;Control mothers with a normal history of pregnancies and their neonates	human cytomegalo virus									
140157		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lopez-Vazquez, A.  et al. 2002	11839711				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Gut. 2002 Mar;50(3):336-40	MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.		142857	26196	2	2002	 Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.	Control:116 healthy controls;Case:133 Spanish celiac patients										
140158		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gonzalez, S.  et al. 2004	15089901				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The American journal of gastroenterology. 2004 Apr;99(4):676-80	Association of MHC class I related gene B (MICB) to celiac disease.		142857	26197	2	2004	 The expression of MIC genes on enterocytes under stressful conditions and their function as ligands of intraepithelial gammadelta and CD8 T cells, together with the data presented here suggest a potential role of MIC genes in the pathogenesis of CD.	Control:116:controls;Case:133/28 celiac disease patients (n=133) and an additional DQ2-negative patients (n=28)										
140159		hepatosplenic schistosomiasis japonica	INFECTION	INF	Schistosomiasis japonica|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zhang, J. H.  et al. 2005	16042197				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhongguo ji sheng chong xue yu ji sheng chong bing za zhi. 2005 Feb;23(1):9-Jun	[Studies on the association of human leukocyte antigen class II alleles with advanced hepatosplenic schistosomiasis japonica]		142857	26198	2	2005	 The study indicated that HLA-DRB1 x 04, DPA1 x 0103. DQA1 x 0601 and DQB1 x 0201 showing a positive, statistically significant (P<0.05) association with advanced hepatosplenic schistosomiasis japonica may be the susceptible genes, whereas HLA-DQA1 x 0501 and DQBH1 x 0601 may be more relevant to a resistance to the disease.											
140160		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Donaldson, P. T.  et al. 2001	11318984				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China|Hong Kong	CDC GDPinfo	3123	Hs.534322			Liver. 2001 Apr;21(2):143-8	HLA class II alleles in Chinese patients with hepatocellular carcinoma		142857	26199	2	2001	 Although none of these associations was significant after correction for multiple testing, this report suggests that further investigations are warranted.	Case:123 hepatitis B surface antigen positive patients (84 with hepatocellular carcinoma and 39 without);Control:124 matched controls										
140161		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Uveitis, Anterior	6	6p21.3	HLA-DRB1	32593131	32665559		Alsaeid, K.  et al. 2005	15703957				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Rheumatology international. 2006 Jan;26(3):224-8	The prevalence of human leukocyte antigen (HLA) DR/DQ/DP alleles in Kuwaiti children with oligoarticular juvenile idiopathic arthritis.		142857	26200	2	2005	Most Kuwaiti Arab patients with OA-JIA who carried a DQ or DP susceptibility allele also had an accompanying DRB1*03 or *8 allele.	Control healthy controls;Case Kuwaiti children with oligoarticular juvenile idiopathic arthritis										
140162		nephropathy in other diseases	RENAL	REN	Glomerulonephritis|Lupus Nephritis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Marchini, M.  et al. 2003	12651073				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Italy	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Apr;64(4):462-8	HLA class II antigens associated with lupus nephritis in Italian SLE patients.		142857	26201	2	2003	In the Italian population HLA-DQA and HLA-DR alleles interact in conferring susceptibility to or protection against lupus nephritis, the diffuse proliferative glomerulonephritis (i.e., the most severe form of nephritis) is associated with the HLA-DR15 bearing haplotypes.	Cohort 244 patients fulfilling the American Rheumatism Association criteria for systemic lupus erythematosus (SLE) Italy 										
140163		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gaede, K. I.  et al. 2005	15750822				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		United States|Israel|Germany	CDC GDPinfo	3123	Hs.534322			Journal of molecular medicine (Berlin, Germany). 2005 May;83(5):397-405	Function associated transforming growth factor-beta gene polymorphism in chronic beryllium disease.		142857	26202	2	2005	In conclusion, the increase in TGF-beta(1) (codon 25) PM genotype frequency associated with a low TGF-beta release suggests that immunoregulatory cytokines such as TGF-beta are involved in the pathogenesis of CBD. Moreover, based on the interaction of gene PMs associated with the control of the immune response, such as TNF-alpha and TGF-beta(1), with a specific immune response gene such as HLA-DPB1-Glu69 or other HLA-class II PMs driving the immune response to Be, the present data suggest that a combination of different genetic backgrounds determine susceptibility for the same immunopathological reaction and disease.	Control:164 matched healthy controls, from two groups of Europeans/Israeli and United States origin;Case:59 patients with chronic beryllium disease, from two groups of Europeans/Israeli and United States:origin										
140164		stroke, ischemic	CARDIOVASCULAR	CARD	Respiratory Tract Infections|Cerebrovascular Accident|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zou, L. P.  et al. 2002	12373032				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDPinfo	3123	Hs.534322			European neurology. 2002 ;48(3):153-7	Evidence for human leukocyte antigen-related susceptibility in idiopathic childhood ischemic stroke.		142857	26203	2	2002	Transient viral or bacterial infections, which involve vasculitis and vascular occlusion in the brain, can trigger idiopathic childhood ischemic stroke on the basis of an genetic predisposition.	Case idiopathic childhood stroke subjects;Control:controls	bacterial infection viral infection									
140165		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	6	6p21.3	HLA-DRB1	32593131	32665559		Tsao, B. P.   2002	12126589				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		142857	26948	2	2002	Review article											
140166		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Kyogoku, C.  et al. 2002	12486608				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2002 Dec;3(8):488-93	Studies on the association of Fc gamma receptor IIA, IIB, IIIA and IIIB polymorphisms with rheumatoid arthritis in the Japanese: evidence fora genetic interaction between HLA-DRB1 and FCGR3A.		142857	26949	2	2002	In conclusion, FCGR3A-176F/F genotype was considered to confer risk through genetic interaction with HLA-DRB1 SE.	Control:303 healthy individuals;Case:382 Japanese patients with rheumatoid arthritis										
140167		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Jonsen, A.  et al. 2004	15535834				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis research & therapy. 2004 ;6(6):R557-62	Analysis of HLA DR, HLA DQ, C4A, FcgammaRIIa, FcgammaRIIIa, MBL, and IL-1Ra allelic variants in Caucasian systemic lupus erythematosus patients suggests an effect of the combined FcgammaRIIa R/R and IL-1Ra 2/2 genotypes on disease susceptibility.		142857	26950	2	2004	This study demonstrates that certain combinations of gene variants may increase susceptibility to SLE, suggesting this approach for future studies. It also confirms earlier findings regarding the HLA DR3-DQ2-C4AQ0 haplotype.	Case:143 Caucasian patients with systemic lupus:erythematosus;Control:200 healthy controls										
140168		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		de Pablo, R.  et al. 2000	11169240				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	South American		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2000 Dec;56(6):507-14	HLA class I and class II allele distribution in the Peruvian population.		142857	26951	2	2000	Our data are consistent with the Mestizo character of this population. In terms of genetic distance Peruvians are closest to Bolivians, which is in agreement with the geographical location and the cultural and anthropological background of the two human groups. Several HLA-B alleles originally described in genetically isolated Amerindian tribes are also present in the sample studied here. This fact and the reported finding of these alleles in several Amerindian groups suggests that they were present in the first wave of humans that populated South America (Paleoindians) before they split to give rise to the different South American tribes.	Cohort Peruvian population sample Peru 										
140169		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-DRB1	32593131	32665559		Miyagawa, S.  et al. 2002	11841366				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			The British journal of dermatology. 2002 Jan;146(1):52-8	Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.		142857	26952	2	2002	 These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV.	Control normal controls subjects;Case:51 Japanese patients with pemphigus										
140170		stem cell transplantation outcome	UNKNOWN	UNK	Leukemia|Lymphoma|Anemia, Aplastic|Myelodysplastic Syndromes|Genetic Diseases, Inborn|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Morishima, Y.  et al. 2002	12010826				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Blood. 2002 Jun;99(11):4200-6	The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.		142857	26953	2	2002	Thus, the role of the HLA class I allele in unrelated bone marrow transplantation was elucidated. Notably, HLA-C alleles had a different mode from HLA-A or -B alleles for acute GVHD and survival.	Cohort 1298 donor-patient pairs in cases where marrow was donated from serologically HLA-A, -B, and -DR compatible donors 										
140171		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Yu, M. L.  et al. 2003	12825172				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Taiwanese	Taiwan	CDC GDPinfo	3123	Hs.534322			The Journal of infectious diseases. 2003 Jul;188(1):62-5	Human leukocyte antigen class I and II alleles and response to interferon-alpha treatment, in Taiwanese patients with chronic hepatitis C virus infection.		142857	26954	2	2003	This suggests a role for a complex host-immunogenetics interplay in the response to IFN-alpha, in patients with chronic HCV infection.	Cohort 100 unrelated Taiwanese patients with chronic hepatitis C virus infection 										
140173	N	lymphoma	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Maitland, K.  et al. 2004	15546341				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Dec;64(6):678-86	HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia.		142857	26956	2	2004	No consistent pattern was demonstrated for any HLA locus in relation to malaria endemicity.	Cohort 367 unrelated Melanesians Vanuatu and New Caledonia 										
140174		alveolitis, extrinsic allergic	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559			16362107				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Revista portuguesa de pneumologia. 2005 Nov-Dec;11(6 Suppl 1):29	[HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).]		142857	26957	2	2005												
140175		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Carrington, M.  et al. 2003	12525683				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Annual review of medicine. 2003 ;54:535-51	The influence of HLA genotype on AIDS		142857	26958	2	2003	Review article											
140176		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Flores-Villanueva, P. O.  et al. 2003	12574360				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of immunology (Baltimore, Md :  1950). 2003 Feb;170(4):1925-9	Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.		142857	26959	2	2003	In conclusion, our study confirms that the molecular mechanisms underlying the associations between HLA genes and AIDS disease progression are not always direct effects of HLA restriction but can also be indirect effects due to LD, or both.	Control:198 slow progressors to AIDS;Case:74 rapid progressors to AIDS:France										
140177		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	HLA-DRB1	32593131	32665559		Pedron, B.  et al. 2003	12665835				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Bone marrow transplantation. 2003 Mar;31(6):423-7	Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation.		142857	26960	2	2003	The use of these data to delineate search strategies is discussed.	Cohort 207 stem cell transplant patients north of France 										
140178		typhoid fever	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Machulla, H. K.  et al. 2003	12753667				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Turkish		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Apr;61(4):292-9	Genetic affinities among Mongol ethnic groups and their relationship to Turks.		142857	26961	2	2003	The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.	Cohort Khalkha, Oold and Tsaatan Turks Mongolia 										
140179		periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Stein, J.  et al. 2003	12941076				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of periodontal research. 2003 Oct;38(5):508-17	Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis?		142857	26962	2	2003	 The present study elucidates the variety of HLA associations and therefore the difficulty to assign single HLA markers to periodontal disease. Susceptibility/resistance of both aggressive and chronic periodontitis may rather be influenced by particular HLA marker combinations. Associated HLA haplotypes may be of further importance for unknown gene loci representing a part of the genetic background for periodontitis. The different associations in aggressive and chronic periodontitis indicate different susceptibility/resistance factors for both diseases.	Control:102 control probands without periodontitis;Case:50/102 German Caucasian groups with generalized aggressive (N = 50) and chronic (N = 102) periodontitis										
140180		kidney transplant complications	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Rees, M. T.  et al. 2003	14551034				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Transplant immunology. 2003 Oct-Nov;12(1):73-8	HLA-A, B, C, DRB1, DQB1 matching heterogeneity in 'favourably matched' kidney recipients		142857	26963	2	2003	Considerable HLA-A, -B, -C, -DR, -DQ matching heterogeneity exists even amongst 'well matched' renal transplant patient groups. Little is known about the effects of combinations of mismatched specificities on graft survival. Thus, further investigation is merited particularly for HLA-C and -DQ mismatching.	Cohort 237 cadaveric donor/recipient pairs 										
140181		oral submucous fibrosis	OTHER	OTH	Oral Submucous Fibrosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Chen, H. M.  et al. 2004	15061705				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Taiwanese	Taiwan	CDC GDPinfo	3123	Hs.534322			Journal of oral pathology & medicine. 2004 Apr;33(4):191-9	HLA typing in Taiwanese patients with oral submucous fibrosis.		142857	26964	2	2004	 We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF.	Case:135 Taiwanese oral submucous fibrosis patients:Taiwan;Control:540 healthy control Taiwanese										
140182		arthrofibrosis	OTHER	OTH	Joint Diseases|Knee Injuries|Genetic Predisposition to Disease|Fibrosis|Postoperative Complications	6	6p21.3	HLA-DRB1	32593131	32665559		Skutek, M.  et al. 2004	15122136				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Germany	CDC GDPinfo	3123	Hs.534322			Arthroscopy. 2004 May;20(5):469-73	Screening for arthrofibrosis after anterior cruciate ligament reconstruction: analysis ofassociation with human leukocyte antigen.		142857	26965	2	2004	 A possible link may exist between arthrofibrosis and HLA-Cw*07- and DQB1*06-negative as well as Cw*08-positive individuals. Further investigation is necesessary to confirm or vitiate the possible association. LEVEL OF EVIDENCE: Level IV.	Cohort 17 patients with primary arthrofibrosis after autologous anterior cruciate ligament 										
140183		psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Lee, K. W.  et al. 2005	15853898				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 May;65(5):437-47	Allelic and haplotypic diversity of HLA-A, -B, -C, -DRB1, and -DQB1 genes in the Korean population.		142857	26966	2	2005	Several sets of allele level haplotypes that could not be discriminated by routine HLA-A, -B, and -DRB1 low-resolution typing originated from allelic diversity of A2, B61, DR4, and DR8 serologic groups. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology.	Cohort 485 apparently unrelated healthy Korean individuals Korea 										
140184		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Malkki, M.  et al. 2005	16029431				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 Aug;66(2):114-24	MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donorhematopoietic transplantation and disease association studies.		142857	26967	2	2005												
140185		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Lymphatic Metastasis	6	6p21.3	HLA-DRB1	32593131	32665559			16365741				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish		CDC GDPinfo	3123	Hs.534322			Immunogenetics. 2006 Jan;57(12):926-33	HLA class I and class II frequencies in patients with cutaneous malignant melanoma from southeastern Spain: the role of HLA-C in disease prognosis		142857	26968	2	2005												
140186	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Machulla, H. K.  et al. 2002	12296785				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	German	Germany	CDC GDPinfo	3123	Hs.534322			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		142857	26969	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
140187		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		Wang, C.  et al. 2004	15057902				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		142857	26970	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
140188		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Li, S.  et al. 2004	15009808				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Apr;63(4):362-8	Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci.		142857	26971	2	2004	Overall, these results suggest that the matching of microsatellite polymorphisms within the HLA region, especially the ones farthest from the classical HLA loci, was not useful indicator for the outcome of HSC transplantation from unrelated donors. In this regard, the future determination of the genome-wide microsatellite genotypes in HLA-matched donor-recipient pairs, outside the MHC, may be a better possibility for identifying minor histocompatibility genes in linkage disequilibria with microsatellites as potential predictive markers for the occurrence of acute GVHD and survival rate in HSC transplantation.	Cohort 100 unrelated hematopoietic stem cell transplant donor-recipient pairs 										
140189		malaria, plasmodium falciparum	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Bera, O.  et al. 2001	11285127				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Mar;57(3):200-7	HLA class I and class II allele and haplotype diversity in Martinicans.		142857	26972	2	2001	In the whole, using PCR-based genotyping methods for HLA class I and class II loci, this study allows a preliminary description of HLA allele distribution in this Caribbean island and gives new elements which may be helpful in the anthropologic field as well as in HLA and disease association studies.	Cohort 100 Martinicans (admixture between African and French Caucasians) Martinicans 										
140190		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Cryoglobulinemia|Autoimmune Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Vassilopoulos, D.  et al. 2003	14740435				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and experimental rheumatology. 2003 Nov-Dec;21(6 Suppl 32):S101-11	Study of host and virological factors of patients with chronic HCV infection and associated laboratory or clinical autoimmune manifestations.		142857	26973	2	2003	 Chronically infected HCV patients with symptomatic mixed cryoglobulinemia display a number of unique characteristics that differentiate them from asymptomatic patients with chronic hepatitis C.	Cohort 40 HCV patients with liver disease only (n = 11), with laboratory (n = 20) or clinical (n = 9) autoimmune manifestations 										
140191		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Sanchez-Velasco, P.  et al. 2003	12753657				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 May;61(5):384-92	HLA alleles in isolated populations from North Spain: origin of the Basques and the ancientIberians.		142857	26974	2	2003	These populations have been compared with neighbouring ones and other Mediterraneans by using neighbour-joining dendrograms and plane genetic distances.	Cohort three relatively isolated populations of northern Spain from Cantabria ( Pas Valleys inhabitants or Pasiegos and Cabuernigos) and from the Basque Country (Arratia Valley inhabitants) 										
140192		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases|Genetic Predisposition to Disease|Hyperplasia	6	6p21.3	HLA-DRB1	32593131	32665559		Fernandez-Mestre, M. T.  et al. 2004	14700596				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Venezuela	CDC GDPinfo	3123	Hs.534322			Human immunology. 2004 Jan;65(1):54-9	HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis		142857	26975	2	2004	Thus, our results reflect the heterogeneity of our population and of the patients tested and suggest a limited influence of several HLA genes in this heterogenous disease or that these might be only markers of nearby non-HLA genes responsible for the susceptibility or resistance effect.	Case ethnically mixed Venezuelan patients with myasthenia gravis;Control:controls										
140193		melanoma	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Spinola, H.  et al. 2005	16101833				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 Sep;66(3):217-30	HLA class I and II polymorphisms in Azores show different settlements in Oriental and Central islands.		142857	26976	2	2005												
140194		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16343061				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDPinfo	3123	Hs.534322			Liver international. 2005 Dec;25(6):1122-7	Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population		142857	26977	2	2005	 These results suggest that particular HLA alleles may have an influence on chronic HCV infection as a host genetic factor in the Korean population.											
140196		multiple sclerosis; optic neuritis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis	6	6p21.3	HLA-DRB1	32593131	32665559		Amirzargar, A. A.  et al. 2005	15613143				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of neurology. 2005 Jan;12(1):25-30	Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-upstudy		142857	26979	2	2005	In conclusion existence of common genetic basis for early manifestations of MS could be suggested.	Control:controls;Case:56 Iranian optic neuritis and multiple sclerosis patients (46 females and 10 males)										
140197	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559		Parapanissiou, E.  et al. 2005	15853903				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Greek	Greece	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2005 May;65(5):481-4	HLA antigens in Greek children with allergic bronchial asthma.		142857	26980	2	2005	The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children.	Control:125 healthy, unrelated Greek children without medical history of atopy;Case:60 Greek children with allergic bronchial asthma due to mite sensitivity:Greece										
140198		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Nejentsev, S.  et al. 2000	11118029				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		142857	26981	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
140199		Sjogren's syndrome	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Street, J.  et al. 2003	12648281				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			European journal of immunogenetics. 2003 Apr;30(2):129-31	Immunogenetics of the rare HLA-B allele B*4408.		142857	26982	2	2003	The phenotype and gene frequencies of B*4408 were 0.01235% and 0.00006, respectively.	Cohort 40,473 subjects residing in Wales 										
140200		scleroderma; jaundice	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tsuchiya, K.  et al. 2001	11929590				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Dec;58(6):395-401	Combination of HLA-A and HLA class II alleles controls the susceptibility to rheumatoid arthritis.		142857	26983	2	2001	Our results suggested the possibility that the susceptibility to RA is controlled by the interaction of HLA-A and DRBl genes or by that of HLA-A and DPBl genes in different patient subgroups.											
140201		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16386646				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Southwestern American Indian		CDC GDPinfo	3123	Hs.534322			Human immunology. 2005 Oct;66(10):1050-6	HLA Alleles and Risk of Cervical Intraepithelial Neoplasia Among Southwestern American Indian Women		142857	26984	2	2005												
140202	Y	antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Tsuchiya, N.  et al. 2003	12858454				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		142857	27462	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
140203		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Flomenberg, N.  et al. 2004	15191952				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		142857	27463	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
140204		pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-DRB1	32593131	32665559		Shao, W.  et al. 2004	15304010				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Sep;64(3):286-92	Molecular typing of human leukocyte antigen and related polymorphisms following whole genome amplification		142857	27464	2	2004	Five different genotyping techniques resolved and confirmed 364 genotypes when both original and Phi29-processed DNA worked in PCRs. General population genetic analyses provided additional evidence that WGA may represent a reliable and simple approach to securing ample genomic DNA for typing HLA, MICA, and related variants.	Cohort 100/22 European Americans (n=100) and native Africans (n=22) 										
140205		graft-versus-host disease; psoriasis; celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Saito, S.  et al. 2000	11169242				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2000 Dec;56(6):522-9	Allele frequencies and haplotypic associations defined by allelic DNA typing at HLA class I and class II loci in the Japanese population.		142857	27465	2	2000	Gene frequencies and haplotypic associations within the entire HLA classical loci elucidated at the high resolution (four-digital) allelic level will provide useful information on anthropology, marrow donor registry, legal medicine and disease-association studies.	Cohort 371 unrelated individuals central Japan 										
140206	Y	pancreatitis, autoimmune; pancreatitis, chronic calcifying	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kawa, S.  et al. 2002	11984513				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.		142857	27466	2	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.	Control:201 healthy subjects;Case:40/43 patients with pancreatitis (40 patients with autoimmune types, 43 patients with chronic calcifying type)										
140207		graft-versus-host disease	IMMUNE	IMM	Cytomegalovirus Infections|Leukemia|Graft vs Host Disease|Acute Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Shaw, B. E.  et al. 2003	12774051				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Bone marrow transplantation. 2003 Jun;31(11):1001-8	The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation		142857	27467	2	2003	This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.	Cohort 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1 										
140208		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-DRB1	32593131	32665559		Muro, M.  et al. 2001	11543893				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish		CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Sep;62(9):910-21	HLA polymorphism in the murcia population (Spain):in the cradle of the archaeologic Iberians		142857	27468	2	2001	The analysis of extended haplotypes showed that the three haplotypes most frequent in our population were respectively, A29-B44-Cwb-DRB1*0701-DRB4*0101-DQA1*0201-DQB1*0202, A1-B8-Cw7-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201 and A30-B18-Cw5-DRB1*0301-DRB3*0101-DQA1*0501-DQB1*0201.	Cohort 173 unrelated Caucasoid donors from Murcia Region in the Southeast of Spain 										
140209		celiac disease	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Farjadian, S.  et al. 2004	15496201				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Nov;64(5):581-7	Molecular analysis of HLA allele frequencies and haplotypes in Baloch of Iran compared with related populations of Pakistan.		142857	27469	2	2004	Neighbor-joining tree based on DA genetic distances and correspondence analysis according to HLA-A, -B, -DQB1, and -DRB1 allele frequencies showed that Baloch of Iran are genetically very close to Baloch and Brahui of Pakistan. This may reflect an admixture of Brahui and Baloch ethnic groups of Pakistan in the Balochistan province of Iran.	Cohort 100 healthy unrelated individuals from the Baloch ethnic group Iran 										
140210		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yang, S.  et al. 2004	15245541				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		CDC GDPinfo	3123	Hs.534322			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		142857	27470	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
140211		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Rajalingam, R.  et al. 2002	11904677				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDPinfo	3123	Hs.534322			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		142857	27471	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
140212		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Migot-Nabias, F.  et al. 2001	11294566				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Gabon	CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		142857	27472	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
140213		nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Hildesheim, A.  et al. 2002	12464650				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	Taiwan	CDC GDPinfo	3123	Hs.534322			Journal of the National Cancer Institute. 2002 Dec;94(23):1780-9	Association of HLA Class I and II Alleles and Extended Haplotypes With Nasopharyngeal Carcinoma in Taiwan		142857	27473	2	2002	 The restriction of the association of HLA-A2 with NPC to HLA-A*0207 probably explains previously observed associations of HLA-A2 with NPC among Chinese but not Caucasians. The extended haplotypes associated with NPC might, in part, explain the higher rates of NPC in this ethnic group.	Control:318 controls subjects matched by age, sex and geographic residence;Case:366 nasopharyngeal cancer cases										
140214	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Donaldson, P. T.  et al. 2002	12100571				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Liver. 2002 Jun;22(3):213-9	HLA and cytokine gene polymorphisms in biliary atresia.		142857	27474	2	2002	 Overall there were no statistically significant differences in the distribution of any of the genes tested comparing patients and controls. These data suggest that biliary atresia is not an HLA-associated disease and that polymorphisms in both the interleukin-1 and interleukin-10 genes are not risk factors for this disease.	Case:101 children referred for surgical assessment with extra hepatic biliary atresia;Control:134 acially and geographically matched healthy adult health care workers										
140215		maternal microchimerism	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Berry, S. M.  et al. 2004	15128924				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Pediatric research. 2004 Jul;56(1):73-8	Association of maternal histocompatibility at class II HLA loci with maternal microchimerism in the fetus.		142857	27737	2	2004	Comparison with HLA data suggested an association between microchimerism and maternal compatibility at the class II DRB1 and/or DQB1 HLA loci and with the maternal HLA-DQB1*0301 allele. There was no relationship between maternal microchimerism and maternal-fetal HLA compatibility at other HLA loci or with gestational age, fetal anomalies, or red cell or platelet isoimmunity.	Cohort 120 maternal-fetal pairs 										
140216	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bugawan, T. L.  et al. 2002	12445315				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Philippines	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2002 Jun;59(6):452-69	The association of specific HLA class I and II alleles with type 1 diabetes among Filipinos.		142857	27738	2	2002	Thus, specific HLA class I-A and C alleles were associated with type 1 diabetes in the Filipinos and may, in combination with high risk DR-DQ haplotypes, significantly modify disease risk.	Case:90 patients with type 1 diabetes:Philipines;Control:94 general population control										
140217		lymphoma	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Ayed, K.  et al. 2004	15361135				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Tunisian		CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2004 Oct;64(4):520-32	HLA class-I and HLA class-II phenotypic, gene and haplotypic frequencies in Tunisians by using molecular typing data.		142857	27739	2	2004	These data can be used as control data for HLA disease associations and paternity studies, but they are also important for the evaluation of the probability rate of success in determining the optimal matched donor in unrelated stem transplantation for Tunisian patients or patients of Tunisian origin.	Cohort 100 random healthy people various parts of Tunisia 										
140218		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Schaffer, M.  et al. 2003	12956878				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		142857	27740	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
140219		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ruiz del Prado, M.Y.  et al. 2001	11181188				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		142857	27741	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
140220		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Barton, A.  et al. 2002	11981324				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		142857	28056	2	2002	Review article											
140221		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DRB1	32593131	32665559		Song, D.  et al. 2002	12133402	DR6, DR2,DR51,DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua fu chan ke za zhi. 2002 May;37(5):284-6	[Study on the gestational diabetes mellitus and histocompatibility human leukocyte antigen DRB allele polymorphism]		142857	11279	2	2002	 Alleles HLA-DR6 (13) were significantly implicated in their susceptibility to GDM. Conversely, HLA-DR2 (15), HLA-DR51 alleles might confer protection against GDM. HLA-DR3 gene and HLA-DR6 (13)/DR9 heterozygote were associated with severity and prognosis of GDM. It may be a marker of grade and prognosis of GDM and may direct the treatment.	Case:30 gestational diabetes melitus women;Control:40 normal prengnant women										
140222	Y	echinococcosis	INFECTION	INF	Echinococcosis, Hepatic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Li, F.  et al. 2000	11798795				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Chinese	China	CDC GDPinfo	3127	Hs.534322			Zhonghua yi xue za zhi. 2000 Jun;80(6):414-6	[Association of HLA-DRB1 allele and the susceptibility to alveolar echinococcosis in the west of China]		604776	11277	2	2000	 Susceptibility to AE is strongly associated with the HLA-DRB1 * 040x allele. The high prevalence of human AE in this region was associated with genetic factor. HLA-DRB1 * 0701 geners resistant to Echinococcus multilocularis metacestode infection.	Control:104 normal healthy people;Case:35 patients with alveolar echinococcosis west China										
140223		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Zuniga, J.  et al. 2001	11704801			promoter	Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Mexican	Mexico	CDC GDPinfo	3127	Hs.534322			Genes and immunity. 2001 Nov;2(7):363-6	Tumor necrosis factor-alpha promoter polymorphisms in Mexican patients with systemic lupus erythematosus (SLE).		604776	14375	2	2001	Our data suggest that the association between the TNF-alpha -238 polymorphism and SLE could play a major role in disease susceptibility.	Case:51 Mexican Mestizo SLE patients;Control:55 ethnically-matched healthy controls										
140224	Y	malaria; schistosomiasis	INFECTION	INF	Malaria, Cerebral|Schistosomiasis japonica|Liver Cirrhosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Hirayama, K.   2002	12509099				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692		Asia	CDC GDPinfo	3127	Hs.534322			The Korean journal of parasitology. 2002 Dec;40(4):165-72	Genetic factors associated with development of cerebral malaria and fibrotic schistosomiasis.		604776	19899	2	2002	We found no statistically significant associations with class I HLA-A but did find associations with class I HLA-B, which includes alleles associated with seronegativity (B8, B13, and B44) and those associated with seropositivity (B7 and B51). Elucidation of the specific peptide-HLA complex interactions that lead to varying or failed immune responses may provide fertile groundwork for improved vaccines that can overcome limitations of the current live, attenuated measles vaccine.											
140225		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB5	32593131	32665559		Abid Kamoun, H.  et al. 2002	11934390				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Tunisian	Tunisia	CDC GDPinfo	3127	Hs.534322			Ann Genet. 2002 Jan-Mar;45(1):45-50	HLA polymorphism in type 1 diabetes Tunisians.		604776	22230	2	2002	1) The Tunisian insulin-dependent diabetics present similarities as well as differences with other ethnic groups (Caucasians, North Africans). 2) The haplotype DRB1*04 DQ*0302 and DRB1*03 DQB1*0201 is positively associated to type 1 diabetes. 3) The heterozygotic genotype DRB1*04 DQB1*0302 / DRB1*03 DQB1*0201 is strongly associated to type 1 diabetes. 4) The haplotypes DRB1*01501 DQB1*0602 and DRB1*11 DQB1*0301 proved to be protective. In addition, the study of the subtypes DRB1*04 showed that alleles DRB1*0405 predispose to type 1 diabetes, whereas the allele DRB1*0403, which is in linkage disequilibrium with the DQB1*0402 in the Tunisian population, has a protective effect.	Case:43 unrelated type 1 diabetes patients, and their mean age at onset is less than 15 years										
140227		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Xiao, Y.  et al. 1999	11798718				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Chinese		CDC GDPinfo	3127	Hs.534322			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1999 Nov;38(11):757-9	[Extensive HLA class II studies in Chinese narcoleptic patients]		604776	22232	2	1999	 These results indicate that HLA-DRB1 * 1501 is a better primary candidate susceptibility gene for narcolepsy in Chinese.	Case:10 narcoleptic patients;Control:50 race matched controls										
140228		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Zipp, F.  et al. 2000	11082515				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Human immunology. 2000 Oct;61(10):1021-30	Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2.		604776	24866	2	2000	We found a significant association with disease for the appearance of proline at position 11, arginine at position 13, and alanine at position 71 of HLA-DRbeta1. Surprisingly, we identified only residues preferentially expressed in the MS group that were related to HLA-DR2. Thus, the contribution of HLA class II to the pathogenesis of MS is not mediated by allele-overlapping antigen binding sites, but is confined to the disease associated HLA allele	Control:210 unrelated controls;Case:66 unrelated multiple sclerosis patients										
140229		sclerosis, systemic	OTHER	OTH	Scleroderma, Systemic	6	6p21.3	HLA-DRB5	32593131	32665559		Kang, S. H.  et al. 2001	11469465				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Korean	Korea	CDC GDPinfo	3127	Hs.534322			The Journal of rheumatology. 2001 Jul;28(7):1577-83	Association of HLA class II genes with systemic sclerosis in Koreans.		604776	24867	2	2001	 HLA-DR gene has a primary association with anti-topo I response, and HLA-DR 38V-67FLEDR71 group alleles including DRB5*0102 (in linkage disequilibrium with DRB1*1502) show the strongest association with anti-topo I response in Korean patients with SSc.	Control:200 healthy control subjects;Case:74 patients with systemic sclerosis										
140230		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DRB5	32593131	32665559		Song, D.  et al. 2002	12133402				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Zhonghua fu chan ke za zhi. 2002 May;37(5):284-6	[Study on the gestational diabetes mellitus and histocompatibility human leukocyte antigen DRB allele polymorphism]		604776	24868	2	2002	 Alleles HLA-DR6 (13) were significantly implicated in their susceptibility to GDM. Conversely, HLA-DR2 (15), HLA-DR51 alleles might confer protection against GDM. HLA-DR3 gene and HLA-DR6 (13)/DR9 heterozygote were associated with severity and prognosis of GDM. It may be a marker of grade and prognosis of GDM and may direct the treatment.	Case:30 gestational diabetes melitus women;Control:40 normal prengnant women										
140231		HIV; sclerosis, systemic	INFECTION	INF	Sjogren's Syndrome	6	6p21.3	HLA-DRB5	32593131	32665559		Nakken, B.  et al. 2001	11555411				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692		Norway	CDC GDPinfo	3127	Hs.534322			Scandinavian journal of immunology. 2001 Oct;54(4):428-33	Associations of MHC class II alleles in Norwegian primary Sjogren's syndrome patients: implicationsfor development of autoantibodies to the Ro52 autoantigen.		604776	26217	2	2001	This study shows that the production of anti-Ro52 autoantibodies in pSS is associated with the DRB1*0301, DRB3*0101, DQA1*0501 and DQB1*0201 alleles which are in strong linkage disequilibrium.	Case a group of primary sjogren's syndrome patients:Norway;Control a group of healthy controls										
140232		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB5	32593131	32665559		Zabay Becerril, J. M.  et al. 2004	14752708				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Spanish	Spain	CDC GDPinfo	3127	Hs.534322			Revista de neurologia. 2004 Jan;38(2):118-22	[The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands:the influence exerted by sex]		604776	26218	2	2004	 The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.	Control:107 controls from a similar ethnic origin;Case:43 individuals with clinically defined MS Balearic Islands, Spain										
140233		jaundice	METABOLIC	MET	Jaundice	6	6p21.3	HLA-DRB5	32593131	32665559		O'Donohue, J  et al. 2000	11034591				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Gut. 2000 Nov;47(5):717-20	Co-amoxiclav jaundice: clinical and histologicalfeatures and HLA class II association.		604776	26219	2	2000	 Co-amoxiclav associated hepatotoxicity may have a genetic basis and be delayed, severe, and prolonged, although complete recovery is usual.	Cohort 22 Jaundice cases after co-amoxiclav use west of Scotland 1991-1997 	co-amoxiclav									
140234		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB5	32593131	32665559		Smikle, M.  et al. 2002	12144077				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692		Jamaica	CDC GDPinfo	3127	Hs.534322			Southern medical journal. 2002 Jul;95(7):717-9	HLA-DRB alleles and systemic lupus erythematosus in Jamaicans.		604776	26220	2	2002	 The SLE HLA associations in Jamaicans differ from those in other black populations.	Control:100:controls;Case:70 patients with systemic lupus erythematosus										
140235		allergy, latex; latex allergy; pemphigoid, bullous	IMMUNE	IMM		6	6p21.3	HLA-DRB5	32593131	32665559		Correa, P. A.  et al. 2002	12144632				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Colombian		CDC GDPinfo	3127	Hs.534322			Tissue antigens. 2002 May;59(5):436-9	HLA-DR and DQB1 gene polymorphism in the North-western Colombian population.		604776	26989	2	2002	The most frequently observed specificities at the DRB1 locus were *07 (16.4%) and *15 (12%), and at the DQB1 locus *02 (18.8%) and *03 (33.6%), of which *0302 was the most prevalent allele (14.3%). The most polymorphic specificities were DRB1*04, 13 and 11, and DQB1*06. Both the HLA-DRB1 and DQB1 loci were in linkage disequilibrium.	Cohort 100 unrelated healthy individuals from an area in north-west Colombia (Medellin) north-west Colombia (Medellin) 										
140236		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB5	32593131	32665559		Carrington, C. V.  et al. 2002	12392858				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Trinidadian		CDC GDPinfo	3127	Hs.534322			Human immunology. 2002 Nov;63(11):1045-54	A comparison of HLA-DR and -DQ allele and haplotype frequencies in Trinidadian populations of African, South Asian, and mixed ancestry		604776	26990	2	2002	Trinidad South Asians displayed similar allele frequencies and associations to other populations from Northern India.	Cohort 75/98/102 individuals of African (n = 75), South Asian (n = 98), and mixed (n = 102) ancestry Trinidad 										
140237		allergy, latex; latex allergy	IMMUNE	IMM	Spinal Dysraphism|Latex Hypersensitivity|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Rihs, H. P.  et al. 2002	12209103				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			The Journal of allergy and clinical immunology. 2002 Sep;110(3):507-14	HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy		604776	26991	2	2002	 The DQB1*0302 (DQ8) alone, the DQB1*0302 (DQ8)-DRB1*04 (DR4) haplotype, or both are significantly involved in the hevein-specific IgE immune response in HCWs with latex allergy.	Case:269/56 healthy care workers (n=269) and spina bifida patietns (n=56) with latex allergies;Control:90 nonatopic control subjects										
140238		Kaposi's sarcoma	CANCER	CAN	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Dorak, M. T.  et al. 2005	15902698				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Journal of medical virology. 2005 Jul;76(3):302-10	HLA-B, -DRB1/3/4/5, and -DQB1 gene polymorphisms in human immunodeficiency virus-related Kaposi's sarcoma.		604776	27476	2	2005	The HLA B*1402-DRB1*0102 haplotype associated with increased risk of KS might represent an antigen-presenting pathway unfavorable for immune response to HHV8. Alternatively, the relationship might hold a clue to the predilection of KS for men because that haplotype harbors the mutant form of the 21-hydroxylase gene.	Case:147 homosexual men who developed KS after infection by human immunodeficiency virus-1 (HIV-1) and human herpes virus 8 (HHV8) from the Multicenter AIDS Cohort Study;Control:147 matched dually infected men without HIV-associated KS (HIV-KS) from the Multicenter AIDS Cohort Study										
140239		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-DRB5	32593131	32665559		Rossman, M. D.  et al. 2003	14508706				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692		United States	CDC GDPinfo	3127	Hs.534322			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor forSarcoidosis in Blacks and Whites		604776	27477	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
140240		multiple sclerosis; diabetes, gestational; insulin; diabetes, type 1; rhinitis	IMMUNE	IMM		6	6p21.3	HLA-DRB5	32593131	32665559		Stephens, H. A.  et al. 2000	11082517				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Thai		CDC GDPinfo	3127	Hs.534322			Human immunology. 2000 Oct;61(10):1039-47	A comparison of molecular HLA-DR and DQ allele profiles forming DR51-, DR52-, and DR53-related haplotypes in five ethnic Thai populations from mainland southeast Asia.		604776	27478	2	2000	One DR51-related haplotype DRB1*1502x, DRB5*0102x, DQA1*0101/4, DQB1*0501, would appear to be characteristic of Thai populations, as it was the most common DR2 haplotype in all five study groups and is also prevalent in other mainland southeast Asians, but is much less evident in the more northern populations of eastern Asia or China.	Cohort 519 individuals representative of five ethnic Thai populations Thailand 										
140241		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Galeazzi, M.  et al. 2002	11997714				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Medicine. 2002 May;81(3):169-78	HLA class II DNA typing in a large series of European patients with systemic lupus erythematosus: correlations with clinical andautoantibody subsets.		604776	27479	2	2002	In conclusion, our study shows some new HLA clinical and serologic associations in SLE and further confirms that a role of MHC genes is mainly to predispose to particular serologic and clinical manifestations of this disease	Cohort 577 patients with SLE 										
140242		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		604776	27928	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
140243	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontitis, Juvenile|Disease Susceptibility	6	6p21.3	HLA-DRB5	32593131	32665559		Machulla, H. K.  et al. 2002	12296785				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	German	Germany	CDC GDPinfo	3127	Hs.534322			Journal of clinical periodontology. 2002 Jun;29(6):573-9	HLA-A, B, Cw, DRB1, DRB3/4/5, DQB1 in German patients suffering from rapidly progressive periodontitis (RPP) and adult periodontitis (AP).		604776	27929	2	2002	 Based on modern DNA techniques the present study shows an association of HLA to both RPP and AP. Certain HLA alleles seem to be associated with susceptibility or resistance to periodontitis in general. However, before this knowledge can be used for differential diagnosis or prognosis, further investigations are necessary.	Control:102 controls without periodontitis;Case:50/102 German rapidly progressive periodontitis patients (n=50) and German adult periodontitis patients:(n=102)										
140244		infection, post allograft	INFECTION	INF	Graft vs Host Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Schaffer, M.  et al. 2003	12956878				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDPinfo	3127	Hs.534322			Tissue antigens. 2003 Sep;62(3):243-50	Roles of HLA-B, HLA-C and HLA-DPA1 incompatibilities in the outcome of unrelated stem-cell transplantation.		604776	28149	2	2003	We conclude that  genomic HLA class I- and class II-typing may improve the outcome after unrelated stem-cell transplantation. The awareness of HLA class I- and II-mismatches in a recipient-donor pair makes it possible to give appropriate pre- and post-transplantation treatment.	Cohort 104 stem-cell transplant donor recipient-pairs, transplanted at Huddinge University Hospital 1988-1999 										
140245		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	6	6p21.3	HLA-DRB1	32593131	32665559		Song, D.  et al. 2002	12133402				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua fu chan ke za zhi. 2002 May;37(5):284-6	[Study on the gestational diabetes mellitus and histocompatibility human leukocyte antigen DRB allele polymorphism]		142857	26992	2	2002	 Alleles HLA-DR6 (13) were significantly implicated in their susceptibility to GDM. Conversely, HLA-DR2 (15), HLA-DR51 alleles might confer protection against GDM. HLA-DR3 gene and HLA-DR6 (13)/DR9 heterozygote were associated with severity and prognosis of GDM. It may be a marker of grade and prognosis of GDM and may direct the treatment.	Case:30 gestational diabetes melitus women;Control:40 normal prengnant women										
140246		bone marrow transplantation	IMMUNE	IMM		6	6p21.3	HLA-H				Kotzampasaki, E. M.  et al. 2004	15350465				major histocompatibility complex, class I, H (pseudogene)				CDC GDPinfo	3136				Transplantation proceedings. 2004 Jul-Aug;36(6):1735-8	Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation		235200	11995	2	2004	These results provide insight into the polymorphism of mH antigens based on the study of their frequencies in bone marrow transplant recipients and their genetically HLA-identical siblings, an endeavor that is essential to investigate the presence of HA-1 and HPA-5 mHags.	Cohort 39 bone marrow transplant recipients, different from the abovementioned ones, and their HLA-identical siblings Cohort 49 bone marrow transplant recipients and their genetically related HLA-identical donors 										
140247		graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Neoplasm Recurrence, Local|Graft vs Host Disease	6	6p21.3	HLA-H				Shiobara, S.  et al. 2004	15359910				major histocompatibility complex, class I, H (pseudogene)				CDC GDPinfo	3136				The Japanese journal of clinical hematology. 2004 Jul;45(7):518-23	[Role of polymorphic adhesion molecules in the development of graft-versus-leukemia effect after HLA-matched allogeneic stem cell transplantation]		235200	17494	2	2004	We conclude that  the polymorphic CD62L molecule contributes to graft-versus-leukemia rather than the development of GVHD after HLA-identical stem cell transplantation.	Cohort 102 patients who had undergone stem cell transplantation from HLA-identical donors 										
140249		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Silander K 2004	15047633				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.		United States|Finland	KGB	3172	Hs.116462			Diabetes. 2004 Apr;53(4):1141-9	Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes.		600281	7128	1	2004												
140250		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Yamagata K 1996	8945471				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			Y Wang	3172	Hs.116462			Nature. 1996 Dec;384(6608):458-60	Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)		600281	7129	1	1996												
140251	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Chevre JC 1998	9754819				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			Y Wang	3172	Hs.116462	MODY		Diabetologia. 1998 Sep;41(9):1017-23	Mutation screening in 18 Caucasian families suggest the existence of other MODY genes		600281	7130	1	1998												
140252	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Love-Gregory LD 2004	15047632			5' promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Ashkenazi	Europe	KGB	3172	Hs.116462			Diabetes. 2004 Apr;53(4):1134-40	A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.		600281	7131	1	2004	Notably, the associations and the partitioned linkage profiles near P2 were independently observed in a Finnish sample, suggesting the presence of potential regulatory element(s) that may contribute to the risk for type 2 diabetes.	Case:275 Ashkenazi Jewish type 2 diabetic subjects;Control:342:controls										
140253	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Love-Gregory, L. D.  et al. 2004	15047632			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Jewish	Europe	CDC GDPinfo	3172	Hs.116462			Diabetes. 2004 Apr;53(4):1134-40	A Common Polymorphism in the Upstream Promoter Region of the Hepatocyte Nuclear Factor-4alpha Gene on Chromosome 20q Is Associated With Type 2 Diabetes and Appears to Contribute to the Evidence for Linkage in an Ashkenazi Jewish Population		600281	11316	2	2004	Notably, the associations and the partitioned linkage profiles near P2 were independently observed in a Finnish sample, suggesting the presence of potential regulatory element(s) that may contribute to the risk for type 2 diabetes.	Case:275 Ashkenazi Jewish type 2 diabetic subjects;Control:342:controls										
140254	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Damcott, C. M.  et al. 2004	15561969			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.		United States	CDC GDPinfo	3172	Hs.116462			Diabetes. 2004 Dec;53(12):3337-41	Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish.		600281	11317	2	2004	The results of this study provide evidence that variants in both the P1 and P2 promoters of HNF4A increase risk for typical type 2 diabetes.	Case:137/139 type 2 diabetics (n=137) and impaired glucose tolerance subjects (n=139) from the Amish Family Diabetes Study;Control:342 normal glucose tolerance subjects										
140255		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Ek, J.  et al. 2005	15728204	Thr130Ile and Val255Met			Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDPinfo	3172	Hs.116462			The Journal of clinical endocrinology and metabolism. 2005 May;90(5):3054-9	The functional Thr130Ile and Val255Met polymorphisms of the hepatocyte nuclear factor-4alpha (HNF4A): gene associations with type2 diabetes or altered beta-cell function among Danes.		600281	11318	2	2005	In conclusion, The Thr130Ile and the Val255Met polymorphisms decrease the transcriptional activity of HNF4A and the Thr130Ile polymorphism associates with T2D whereas the Val255Met variant associates with a decrease in fasting serum-C-peptide.	Case:1,409 Danish Caucasian type 2 diabetics;Control:4,726 glucose tolerant Danish white subjects										
140256		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Vaxillaire, M.  et al. 2005	15735892			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	French	Finland|France	CDC GDPinfo	3172	Hs.116462			Diabetologia. 2005 Mar;48(3):440-4	Effect of common polymorphisms in the HNF4alpha promoter on susceptibility to type 2 diabetes in the French Caucasian population.		600281	11319	2	2005	None of the previously associated SNPs confer an increased risk for diabetes in French Caucasians. A large meta-analysis of association studies will determine whether there is a consistent association between particular SNPs upstream of HNF-4alpha and type 2 diabetes in several ethnic groups.	Control:686 normoglycemic subjectsFrench Caucasian;Case:744 unrelated type 2 diabetic patients										
140258	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Disease Progression	20	20q12-q13.1	HNF4A	42417854	42493444		Laukkanen, O.  et al. 2005	15983230				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.		Finland	CDC GDPinfo	3172	Hs.116462			Diabetes. 2005 Jul;54(7):2256-60	Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the FinnishDiabetes Prevention Study.		600281	11321	2	2005	We conclude that  the SNPs of SLC2A2 predict the conversion to diabetes in obese subjects with IGT.											
140259	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Mitchell, S. M.  et al. 2002	12083813				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.		Great Britain	CDC GDPinfo	3172	Hs.116462			Molecular genetics and metabolism. 2002 Jun;76(2):148-51	The role of the HNF4alpha enhancer in type 2 diabetes.		600281	17508	2	2002	We conclude that  variation in the HNF4alpha enhancer element is not a common cause of susceptibility to type 2 diabetes.	Cohort 39 white UK young onset diabetic subjects 										
140260	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Zhu, Q.  et al. 2003	12669197				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Japanese	Japan	CDC GDPinfo	3172	Hs.116462			Diabetologia. 2003 Apr;46(4):567-73	T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes and is associated with late-onset Type 2 diabetes mellitus in Japanese subjects.		600281	17509	2	2003	Our findings suggest that T130I-HNF-4alpha is a loss-of-function mutation in hepatocytes and that this mutation is associated with late-onset Type 2 diabetes in Japanese subjects. The T130I mutation in the HNF-4alpha gene might be involved in the development of Type 2 diabetes in the Japanese population.	Control:354 unrelated non-diabetic control subjects;Case:423 unrelated Japanese patients with late-onset type 2:diabetes										
140261		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Barroso, I.  et al. 2003	14551916				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDPinfo	3172	Hs.116462			PLoS biology. 2003 Oct;1(1):E20	Candidate Gene Association Study in Type 2 Diabetes Indicates a Role for Genes Involved in beta-Cell Function as Well as Insulin Action		600281	17510	2	2003	These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic beta-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to reliably identify the size of effect we now expect for complex diseases.	Case Caucasian type 2 diabetic patients;Control Caucasian controls										
140262	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Weedon, M. N.  et al. 2004	15504983			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Caucasian	Great Britain	CDC GDPinfo	3172	Hs.116462			Diabetes. 2004 Nov;53(11):3002-6	Common Variants of the Hepatocyte Nuclear Factor-4{alpha} P2 Promoter Are Associated With Type 2 Diabetes in the U.K. Population		600281	17511	2	2004	In conclusion, we have replicated the association of the HNF4alpha P2 promoter haplotype with type 2 diabetes in a U.K. Caucasian population where there is no evidence of linkage to 20q.	Case type 2 diabetic cases:UK;Control:controls										
140263		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Winckler, W.  et al. 2005	15734869				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDPinfo	3172	Hs.116462			Diabetes. 2005 Mar;54(3):886-92	Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people.		600281	17513	2	2005	Although our combined results fail to replicate the previously reported association of common variants in HNF4alpha with risk for type 2 diabetes, we cannot exclude an effect smaller than that originally proposed, heterogeneity among samples, variation in as-yet-unmeasured genotypic or environmental modifiers, or true association secondary to linkage disequilibrium (LD) with as-yet-undiscovered variant(s) in the region.	Case type 2 diabetic patients Sweden, Finland and Canada;Control:controls:Cohort:4,400:subjects North America and Poland										
140264	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Hansen, S. K.  et al. 2005	15735891				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Danish	Finland|Denmark	CDC GDPinfo	3172	Hs.116462			Diabetologia. 2005 Mar;48(3):452-8	Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population.		600281	17514	2	2005	Consistent with results from studies of Finnish and Ashkenazi Jewish subjects, variation near the P2 region of HNF4A is associated with type 2 diabetes in the Danish population.	Case:1,387/1,429/1,4171.371 Danish Caucasian type 2 diabetic patients,:respectively;Control:4,766/4,727/4,665/4,748 glucose-tolerant subjects										
140265		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Pearson, E. R.  et al. 2005	15830177				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.		Europe	CDC GDPinfo	3172	Hs.116462			Diabetologia. 2005 May;48(5):878-85	Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.		600281	17515	2	2005	HNF-4alpha mutations are common when no HNF-1alpha mutation is found in strictly defined MODY families. The HNF-4alpha clinical phenotype and beta cell dysfunction are similar to HNF-1alpha MODY and are associated with reduced apolipoprotein A2 levels. We suggest that sequencing of HNF-4alpha should be performed in patients with clinical characteristics of HNF-1alpha MODY in whom mutations in HNF-1alpha are not found.	Control:32/54 familial controls (n=32) and HNF-4alpha mutation:carriers (n=54);Case:48 MODY probands, selected for a phenotype of HNF-1alpha MODY but negative for HNF-1alpha:mutations										
140266	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Muller, Y. L.  et al. 2005	16186411				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Pima Indian		CDC GDPinfo	3172	Hs.116462			Diabetes. 2005 Oct;54(10):3035-9	Variants in hepatocyte nuclear factor 4alpha are modestly associated with type 2 diabetes in Pima Indians.		600281	17516	2	2005	We conclude that  variants in HNF4alpha do not appear to be major determinants for type 2 diabetes in Pima Indians; however, HNF4alpha may have a minor role in type 2 diabetes susceptibility within this Native American population.											
140267		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Glucose Intolerance	20	20q12-q13.1	HNF4A	42417854	42493444		Weng, J.  et al. 2002	11772903				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Swedish	Sweden	CDC GDPinfo	3172	Hs.116462			Diabetes care. 2002 Jan;25(1):68-71	Screening for MODY mutations, GAD antibodies, and type 1 diabetes--associated HLA genotypes in women with gestational diabetes mellitus.		600281	22238	2	2002	 MODY mutations but not autoimmunity contribute to GDM in Swedish women with a family history of diabetes and increase the risk of subsequent diabetes.	Case:66 Swedish women with gestational diabetes mellitus:Sweden;Control:82 type 2 diabetic patients;Control:86 healthy controls										
140268		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Aguilera, E.  et al. 2005	15660729				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDPinfo	3172	Hs.116462			Diabetic medicine. 2005 Feb;22(2):137-43	Clinical characteristics, beta-cell function, HLA class II and mutations in MODY genes in non-paediatric subjects with Type 1 diabetes without pancreatic autoantibodies.		600281	26224	2	2005	In a non-paediatric population with newly diagnosed T1D, the absence of islet antibodies does not imply clinical or metabolic differences when compared with those cases with islet antibodies. Despite a similar HLA-DR/DQ typing, the presence of protective alleles and molecular properties in a higher proportion in the Ab neg group suggests that these factors could modulate the presence or absence of islet antibodies. Variants in HNF-1alpha and HNF-4alpha are unlikely to be major contributors to the pathogenesis of diabetes in antibody-negative T1D.	Control:20 diabetic patients without pancreatic autoantibodies;Case:20 diabetic patients with pancreatic autoantibodies										
140270		hemochromatosis	METABOLIC	MET	Hemochromatosis	1	1q42	HRES1				Koefoed, P.  et al. 2002	12512743				HTLV-1 related endogenous sequence		Danish	Denmark	CDC GDPinfo	3272				Scandinavian journal of clinical and laboratory investigation. 2002 ;62(7):527-35	HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping		143025	17540	2	2002	The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection is generally adequate. However, the study showed substantial deviation in the selection efficiency among the various hospitals and general practitioners.	Cohort 900/69/420 unrelated patients from Danish hospitals and general practitioners (n=900) and consecutive patients from a specialized liver unit (n=69) and Danish blood donors (n=420) 										
140271	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	12	12p13.2-q24.1	IBD2				Uthoff, S. M.  et al. 2002	12439891				inflammatory bowel disease 2		Jewish		CDC GDPinfo	3378				American journal of medical genetics. 2002 Dec;113(3):242-9	Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non-Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease		601458	17620	2	2002	These data indicate that there may be significant genetic heterogeneity between different ethnic and racial IBD populations or may simply reflect differences in marker allele frequencies among populations.	Control:100 population-based controls;Case:89/121 ulcerative colitis (89 patients), Crohn disease (121 patients)										
140273		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	15	15q26	IDDM3				Zhoucun, A.  et al. 2001	12901503				insulin-dependent diabetes mellitus 3		Chinese	China	CDC GDPinfo	3402				Chinese medical sciences journal. 2001 Jun;16(2):120-2	Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population.		600318	17628	2	2001	 IDDM3, IDDM4, IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.	Control:105 normal Chinese Han subjects;Case:48 patients with IDDM:Chengdu, China										
140274		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q13	IDDM4				Zhoucun, A.  et al. 2001	12901503				insulin-dependent diabetes mellitus 4		Chinese	China	CDC GDPinfo	3403				Chinese medical sciences journal. 2001 Jun;16(2):120-2	Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population.		600319	22311	2	2001	 IDDM3, IDDM4, IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.	Control:105 normal Chinese Han subjects;Case:48 patients with IDDM:Chengdu, China										
140275		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Zhoucun, A.  et al. 2001	12901503				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Chinese	China	CDC GDPinfo	387082	Hs.269775			Chinese medical sciences journal. 2001 Jun;16(2):120-2	Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population.		608829	24910	2	2001	 IDDM3, IDDM4, IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.	Control:105 normal Chinese Han subjects;Case:48 patients with IDDM:Chengdu, China										
140276	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q27	IDDM8				Zhoucun, A.  et al. 2001	12901503				insulin-dependent diabetes mellitus 8		Chinese	China	CDC GDPinfo	3407				Chinese medical sciences journal. 2001 Jun;16(2):120-2	Preliminary studies on associations of IDDM3, IDDM4, IDDM5 and IDDM8 with IDDM in Chengdu population.		600883	26240	2	2001	 IDDM3, IDDM4, IDDM5 but not IDDM8 may be associated with IDDM in Chinese Han nationality population.	Control:105 normal Chinese Han subjects;Case:48 patients with IDDM:Chengdu, China										
140277	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928			16390390				cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Pediatric diabetes. 2005 Dec;6(4):213-20	Genetic interaction among three genomic regions creates distinct contributions to early- and late-onset type 1 diabetes mellitus		123890	24909	2	2005	We discovered that younger individuals with HLA-DRB1*0301/DRB1*04 and INS I/I genotypes exhibited increased susceptibility to T1DM, whereas the interaction of INS I/I and CTLA4 G/G genotypes was more common in older children with T1DM.											
140278		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q25	EGF	111053498	111152868		Frossard, P. M.  et al. 2002	12009575				epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2		United Arab Emirates	CDC GDPinfo	1950	Hs.419815			Molecular immunology. 2002 May;38(13-Dec):969-76	A study of five human cytokine genes in human essential hypertension		131530	22320	2	2002	However, although they do not reach statistical significance (which may be due to the relatively restricted number of subjects included in this study), the distribution differences (in normotensives and hypertensives) observed in the cases of EGF and TNF-alpha reflect trends that could be expected from a mechanistic explanation of the pathways that underlie the patho-physiology of hypertension.	Case:81:hypertensives Abu Dhabi Emirate;Control:93:normotensives										
140279		human longevity	AGING	AGE		15	15q26.3	IGF1R	97010283	97325282		Bonafe M 2003	12843179				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			KGB	3480	Hs.592020			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3299-304	Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.		147370	7152	1	2003												
140280		human longevity	AGING	AGE		15	15q26.3	IGF1R	97010283	97325282		Bonafe M 2003	12843179	IGF-I receptor; G/A, codon 1013			Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			KGB	3480	Hs.592020			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3299-304	Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.		147370	7153	1	2003												
140282		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Obesity|Body Weight	15	15q26.3	IGF1R	97010283	97325282		Laukkanen, O.  et al. 2004	15127203				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2		Finland	CDC GDPinfo	3480	Hs.592020			Diabetologia. 2004 May;47(5):871-7	Common polymorphisms in the genes regulating the early insulin signalling pathway: effects on weightchange and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study.		147370	13124	2	2004	The common polymorphisms of the IGF-1R, IRS-1 and IRS-2 genes may modify the weight change response to a lifestyle intervention but not the conversion from IGT to Type 2 diabetes, whereas IGF-1R may also regulate the risk of developing Type 2 diabetes.	Cohort 490 overweight subjects with impaired glucose tolerance whose DNA was available from the Finnish Diabetes Prevention Study 	diet physical activity									
140283	Y	birth weight	REPRODUCTION	REP	Fetal Growth Retardation|Growth Disorders	15	15q26.3	IGF1R	97010283	97325282		Abuzzahab, M. J.  et al. 2003	14657428				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDPinfo	3480	Hs.592020			The New England journal of medicine. 2003 Dec;349(23):2211-22	IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.		147370	17667	2	2003	 Mutations in the IGF-IR gene that lead to abnormalities in the function or number of IGF-I receptors may also retard intrauterine and subsequent growth in humans.	Cohort 42/50 patients with unexplained intrauterine growth retardation and subsequent short stature (n=42) and children with short stature who had elevated circulating IGF-I concentrations (n=50) 										
140284	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		15	15q26.3	IGF1R	97010283	97325282		Li, J. P.  et al. 2004	15043778				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDPinfo	3480	Hs.592020			Chinese medical journal. 2004 Mar;117(3):382-8	The association between paired basic amino acid cleaving enzyme 4 gene haplotype and diastolic blood pressure		147370	18858	2	2004	 This study for the first time demonstrated that PACE4 gene may play an important role in the regulation of DBP. This association indicates that variations influencing DBP resides in or near this genomic region.	Control:125 normal diastolid blood pressure subjects;Case:163 high diastolic blood pressure subjects										
140285		diabetes, type 2; obesity	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	15	15q26.3	IGF1R	97010283	97325282		San Millan, J. L.  et al. 2004	15181035				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDPinfo	3480	Hs.592020			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2640-6	Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.		147370	22341	2	2004	In conclusion, the paraoxonase -108 C-->T variant and the ApaI polymorphism in the IGF2 gene are associated with PCOS and might contribute to increased oxidative stress, insulin resistance, and hyperandrogenism in this prevalent disorder.	Control:42 healthy controls;Case:72 polycystic ovary syndrome patients										
140286		Longevity	AGING	AGE		11	11p15.5	IGF2	2106922	2127409		De Luca M 2001	11672987				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			TJB	3481	Hs.373908			Experimental gerontology. 2001 Nov;36(10):1663-71			147470	7154	1	2001												
140287	Y	gestational diabetes mellitus	METABOLIC	MET	Pregnancy in Diabetics|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	IGF2	2106922	2127409		Ober C et al. 1989	2574127				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			KGB	3481	Hs.373908			Genetic epidemiology. 1989 ;6(5):559-69	Increased risk for gestational diabetes mellitus associated with insulin receptor and insulin-like growth factor II restriction fragment length polymorphisms.		147470	7155	1	1989												
140288		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	IGF2	2106922	2127409		Paquette J 2004	9603916				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			Y Wang	3481	Hs.373908			The Journal of biological chemistry. 1998 Jun;273(23):14158-64	The INS 5' variable number of tandem repeats is associated with IGF2 expression in humans		147470	7156	1	2004												
140289		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	IGF2	2106922	2127409		Paquette J 2004	9603916				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			Y Wang	3481	Hs.373908			The Journal of biological chemistry. 1998 Jun;273(23):14158-64	The INS 5' variable number of tandem repeats is associated with IGF2 expression in humans		147470	7157	1	2004												
140290		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Vafiadis P 2004	9709972				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			Y Wang	3481	Hs.373908			The Journal of clinical endocrinology and metabolism. 1998 Aug;83(8):2933-9	Divergence between genetic determinants of IGF2 transcription levels in leukocytes and of IDDM2-encoded susceptibility to type 1 diabetes		147470	7158	1	2004												
140291	Y	body mass	METABOLIC	MET		11	11p15.5	IGF2	2106922	2127409		Gaunt, T. R.  et al. 2001	11448941				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Human molecular genetics. 2001 Jul;10(14):1491-501	Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males.		147470	11595	2	2001	The total proportion of BMI variance explained by this model was 2.25%, strongly suggesting that IGF2 genetic variation is a significant determinant of body weight in middle-aged males.	Cohort 2500 middle-aged Caucasoid males 										
140292		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Majores, M.  et al. 2002	12111440				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			J Neural Transm. 2002 Jul;109(8-Jul):1029-34	The insulin gene VNTR polymorphism in Alzheimer's disease: results of a pilot study.		147470	11596	2	2002	Our preliminary results suggest, that genetically determined alterations of the INS/IGF-2 metabolism might modify the course of AD. Further studies are warranted to confirm these data in larger study samples.											
140293		muscle testing; birth weight	NORMALVARIATION	NV	Birth Weight	11	11p15.5	IGF2	2106922	2127409		Sayer, A. A.  et al. 2002	12446294				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Age and ageing. 2002 Nov;31(6):468-70	Polymorphism of the IGF2 gene, birth weight and grip strength in adult men.		147470	11597	2	2002	 These results show that polymorphism of the IGF2 gene and birth weight have independent effects on adult grip strength in men and suggest that IGF2 polymorphism does not explain the association between size at birth and grip in later life. This study provides preliminary evidence for independent genetic and early environmental programming of adult muscle strength.	Cohort 693 Hertfordshire men and women born between 1920 and 1930 who had taken part in a study linking early growth to ageing 										
140295		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Kaur, R.  et al. 2005	15970649				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3		India	CDC GDPinfo	3481	Hs.373908			Tumour biology. 2005 May-Jun;26(3):147-52	Polymorphism in IGF-2 as a surrogate marker for predisposition towards tobacco chewing-mediated oral cancer.		147470	11600	2	2005												
140296	Y	body mass	METABOLIC	MET	Obesity|Birth Weight	11	11p15.5	IGF2	2106922	2127409		Gomes, M. V.  et al. 2005	16102992				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Growth hormone & IGF research. 2005 Oct;15(5):360-2	Association between birth weight, body mass index and IGF2/ApaI polymorphism.		147470	11601	2	2005												
140297		insulin; obesity	METABOLIC	MET		11	11p15.5	IGF2	2106922	2127409		Lee, H. J.  et al. 2005	16166779				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Korean		CDC GDPinfo	3481	Hs.373908			Human heredity. 2005 ;60(2):73-80	Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population.		147470	11602	2	2005	 These SNPs may be useful as genetic markers in disease association studies in the Korean population.											
140298	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Diabetes Mellitus	11	11p15.5	IGF2	2106922	2127409		Ho, G. Y.  et al. 2003	12610512				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			British journal of cancer. 2003 Jan;88(2):263-9	Polymorphism of the insulin gene is associated with increased prostate cancer risk.		147470	14232	2	2003	The polymorphism of INS may play a role in the aetiology of prostate cancer. Given the high prevalence of the CC genotype and its association with late age of onset of low-grade tumours, this polymorphism may contribute to the unique characteristics of prostate cancer, namely a high prevalence of indolent cancers and the dramatic increase in incidence with age.	Case:126 prostate cancer cases;Control:126 paired controls matched on age, race and countries of origin										
140299		obesity	METABOLIC	MET	Obesity	11	11p15.5	IGF2	2106922	2127409		Roth, S. M.  et al. 2002	12075589				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Caucasian		CDC GDPinfo	3481	Hs.373908			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):585-7	IGF2 genotype and obesity in men and women across the adult age span.		147470	17668	2	2002	In summary, individuals homozygous for the IGF2 G allele do not exhibit higher body mass, BMI or fat mass compared to A/A individuals; however, Caucasians with the A/A genotype exhibit higher fat mass than G/G individuals.	Cohort 500 healthy men and women (19-90 y) 										
140300	Y	Beckwith Wiedemann syndrome	DEVELOPMENTAL	DEV	Beckwith-Wiedemann Syndrome|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Murrell, A.  et al. 2003	14645199				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Human molecular genetics. 2004 Jan;13(2):247-55	An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interactionbetween genotype and epigenotype.		147470	17669	2	2003	There was a significant increase in the frequency of the CAGA haplotype and a significant decrease in the frequency of the CATG haplotype in the patient cohort compared to controls. These associations were still significant in a BWS subgroup with KvDMR1 LOM, suggesting that the G allele at T382G SNP (CAGA haplotype) is associated with LOM at KvDMR1. This indicates either a genetic predisposition to LOM, or interactions between genotype and epigenotype that impinge on the disease phenotype.	Case Beckwith Wiedemann syndrome patients;Control healthy controls										
140301		muscle testing	NORMALVARIATION	NV		11	11p15.5	IGF2	2106922	2127409		Schrager, M. A.  et al. 2004	15298990				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Journal of applied physiology (Bethesda, Md :  1985). 2004 Dec;97(6):2176-83	Insulin-like growth factor-2 (IGF2) genotype, fat-free mass, and muscle performance across the adult life span		147470	17670	2	2004	No genotype-associated differences in rates of loss of grip strength or SP were found in cohort 1. These results from cohort 2 support the hypothesis that variation within a gene known to influence developing muscle affects muscle mass and muscle function in later life.	Cohort 246/239 men (n=246) and women (n=239) tested for total body fat-free mass and isokinetic peak torque Cohort 94 men tested for isometric grip strength and sustained power 										
140302	Y	eating disorder	PSYCH	PSY	Metabolism, Inborn Errors|Weight Gain|Eating Disorders	11	11p15.5	IGF2	2106922	2127409		Bachner-Melman, R.  et al. 2005	16330588				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			The American journal of psychiatry. 2005 Dec;162(12):2256-62	Association Between the Insulin-Like Growth Factor 2 Gene (IGF2) and Scores on the Eating Attitudes Test in Nonclinical Subjects: A Family-Based Study		147470	17672	2	2005	 The current finding that the IGF2 ApaI G polymorphism, which predisposes to weight gain, may also contribute to the pathology of eating disorders is intriguing. Neurotransmitter modulation of appetitive behavior is the focus of most hypotheses regarding the etiology of severe eating disorders. The current results to some measure challenge this view, and inborn metabolic tendencies to weight gain in some women may trigger constant dieting, which in predisposed individuals eventually leads to severe eating disorders.											
140303	Y	body mass; triglycerides; blood pressure, arterial	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease|Body Weight	11	11p15.5	IGF2	2106922	2127409		Rodriguez, S.  et al. 2004	14749349				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Human molecular genetics. 2004 Apr;13(7):715-25	Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits.		147470	19844	2	2004	We propose that long repeat insertion in the insulin gene promoter (	Cohort 2,743 males 51-62 years old 		IGF2-INS-TH						Y		cardiovascular risk traits
140304	Y	insulin; obesity	METABOLIC	MET	Obesity|Birth Weight	11	11p15.5	IGF2	2106922	2127409		Rodriguez, S.  et al. 2006	16251897				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			European journal of human genetics. 2006 Jan;14(1):109-16	Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes.		147470	19847	2	2005												
140305	N	insulin	METABOLIC	MET		11	11p15.5	IGF2	2106922	2127409		T Hart, L. M.  et al. 2004	14749262				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Diabetes. 2004 Feb;53 Suppl 1:S26-30	Genetic factors and insulin secretion: genevariants in the IGF genes.		147470	22342	2	2004	We conclude that  gene variants in the IGF-I and IGF-II genes are not associated with detectable variations in glucose-stimulated insulin secretion in these three independent populations. Further studies are needed to examine the exact contributions of the IGF-I CA repeat alleles to variations in ISI and DI.	Cohort 237 normal and impaired glucose-tolerant subjects the Netherlands and Germany 										
140307		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11p15.5	IGF2	2106922	2127409		Lai, M. T.  et al. 2005	16018936				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3		Taiwan	CDC GDPinfo	3481	Hs.373908			Urologic oncology. 2005 Jul-Aug;23(4):225-9	Glutathione S-transferase M1 gene but not insulin-like growth factor-2 gene or epidermal growth factor gene is associated with prostate cancer.		147470	24924	2	2005												
140308	Y	diabetes, type 2; obesity	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		San Millan, J. L.  et al. 2004	15181035				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			The Journal of clinical endocrinology and metabolism. 2004 Jun;89(6):2640-6	Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.		147470	24925	2	2004	In conclusion, the paraoxonase -108 C-->T variant and the ApaI polymorphism in the IGF2 gene are associated with PCOS and might contribute to increased oxidative stress, insulin resistance, and hyperandrogenism in this prevalent disorder.	Control:42 healthy controls;Case:72 polycystic ovary syndrome patients										
140309		longevity	AGING	AGE		11	11p15.5	IGF2	2106922	2127409		Stessman, J.  et al. 2005	15621215				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		147470	27004	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
140310		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	11	11p15.5	IGF2	2106922	2127409		Watanabe, I.  et al. 2003	12732844				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Japanese	Japan	CDC GDPinfo	3481	Hs.373908			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		147470	28546	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
140311		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33-q36	IGFBP5	217245072	217268516		Owerbach D 2004	9166681				insulin-like growth factor binding protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000599.2			Y Wang	3488	Hs.369982			Diabetes. 1997 Jun;46(6):1069-74	Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35.		146734	3444	1	2004												
140312		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Trisomy|Translocation, Genetic	14	14q32.33	IGHV@				Dreger, P.  et al. 2004	14670929				immunoglobulin heavy variable group				CDC GDPinfo	3509				Blood. 2004 Apr;103(7):2850-8	The prognostic impact of autologous stem cell transplantation in patients with chronic lymphocytic leukemia: a risk-matched analysis basedon the VH gene mutational status.		147070	17679	2	2004	These data suggest a survival benefit for patients with poor-risk CLL receiving SHDT during the course of their disease.	Cohort 66/291 patients who had undergone a uniform SHDT regimen (n=66) and patients treated conventionally (n=291) 										
140313			NORMALVARIATION	NV		2	2p12	IGKV@				Padyukov, L.  et al. 2001	11261927	IGKV2-29 and IGKV2D-29			immunoglobulin kappa variable group		Chinese/Swedish Caucasians		CDC GDPinfo	3519				Immunogenetics. 2001 Feb;53(1):22-30	Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese		146980	11613	2	2001	These data show a significant difference in the distribution of IGKV2D-29 and IGKV2-29 alleles among Swedish Caucasians and Hong Kong Chinese. This may help to explain differences in the occurrence of H. influenzae type b infection in the two populations. Evaluated methods for IGKV2D-29 and IGKV2-29 allele detection can be used for the screening allele polymorphisms in other particular patient groups.	Cohort Swedish Caucasians and Chinese of Hong Kong 										
140314		amyloidosis	METABOLIC	MET	Amyloidosis, Familial|Syndrome	2	2p12	IGKV@				Abraham, R. S.  et al. 2002	12515719				immunoglobulin kappa variable group				CDC GDPinfo	3519				Blood. 2003 May;101(10):3801-8	Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated (AL) amyloidosis		146980	17680	2	2002	A preferential use of VL germline genes was noted for both ALkappa and lambda patients. There was a significant correlation between the use of the VlambdaVI germline donor, 6a and renal involvement as well as the Vlambda III gene, 3r with 'soft-tissue' AL. The use of a biased VL gene repertoire also correlated with clinical outcome, revealing important trends for predicting prognosis. The use of Vlambda II germline genes was associated with cardiac amyloidosis and affected survival adversely. The presence of multiple myeloma also correlated with a poor prognosis. The presence of renal disease, on the other hand, was associated with improved survival. Therefore, identification of the clonal VL gene in AL has important implications in determining clinical outcome.	Cohort 58 (32 lambda and 26 kappa) amyoid patients 										
140315	Y	systemic lupus erythematosus; arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	22	22q11.1-q11.2	IGLV@				Queiroz, R. G.  et al. 2001	11285465				immunoglobulin lambda variable group				CDC GDPinfo	3546	HS.512116			Brazilian journal of medical and biological research. 2001 Apr;34(4):525-8	Association between EcoRI fragment-length polymorphism of the immunoglobulin lambda variable 8 (IGLV8) gene family with rheumatoid arthritis and systemic lupus erythematosus		147240	11614	2	2001	These findings suggest an association between the absence of the 6.0-kb EcoRI fragment and rheumatoid arthritis and systemic lupus erythematosus.	Control:103 normal individuals;Case:28 systemic lupus erethematosis patients;Case:48 rheumatoid arthritis patients										
140316		amyloidosis	METABOLIC	MET	Amyloidosis, Familial|Syndrome	22	22q11.1-q11.2	IGLV@				Abraham, R. S.  et al. 2002	12515719				immunoglobulin lambda variable group				CDC GDPinfo	3546	HS.512116			Blood. 2003 May;101(10):3801-8	Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated (AL) amyloidosis		147240	22356	2	2002	A preferential use of VL germline genes was noted for both ALkappa and lambda patients. There was a significant correlation between the use of the VlambdaVI germline donor, 6a and renal involvement as well as the Vlambda III gene, 3r with 'soft-tissue' AL. The use of a biased VL gene repertoire also correlated with clinical outcome, revealing important trends for predicting prognosis. The use of Vlambda II germline genes was associated with cardiac amyloidosis and affected survival adversely. The presence of multiple myeloma also correlated with a poor prognosis. The presence of renal disease, on the other hand, was associated with improved survival. Therefore, identification of the clonal VL gene in AL has important implications in determining clinical outcome.	Cohort 58 (32 lambda and 26 kappa) amyoid patients 										
140317	Y	bone resorption	AGING	AGE	Osteoporosis, Postmenopausal	7	7p21	IL6	22733322	22738141	0.007	Ferrari SL 2003	12519862	-572/-174GC haplotypes			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	healthy postmenopausal women		KEW	3569	Hs.512234	circulating levels of C-reactive protein		The Journal of clinical endocrinology and metabolism. 2003 Jan;88(1):255-9			147620	7159	1	2003		Case:495										
140318	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	0.002	Jahromi MM 2000	11054276	G.G(-174) increased in pts		5`promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of interferon & cytokine research. 2000 Oct;20(10):885-8	A polymorphism in the promoter region of the gene for interleukin-6 is associated with susceptibility to type 1 diabetes mellitus.		147620	7160	1	2000	In conclusion, these results suggest that the IL-6 gene may contribute to the genetic susceptibility to type 1 diabetes.	Control:120 normal, healthy controls;Case:257 Caucasoid patients with type 1 diabetes										
140319	N	Myesthenia Gravis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141	n	Huang D. 1999	2577114	-174.VNTR	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Denmark	KGB	3569	Hs.512234			Journal of immunogenetics. 1989 Dec;16(6):461-5			147620	7161	1	1999												
140320	N	Hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7p21	IL6	22733322	22738141	n	Nakajima T. 1999	11196657	3310	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	KGB	3569	Hs.512234			Genes and immunity. 1999 Nov;1(2):115-9			147620	7162	1	1999												
140322	N	Ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Collado-Escobar M.D. 2000	10852271	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Spain	KGB	3569	Hs.512234			The Journal of rheumatology. 2000 Jun;27(6):1461-3			147620	7164	1	2000	 Our results suggest the -174 IL-6 polymorphism does not play an important role in susceptibility to AS. Larger studies are needed to provide more conclusive evidence on the role of -174 IL-6 polymorphism in AS.											
140323	N	Multiple myeloma	CANCER	CAN	Multiple Myeloma|Paraproteinemias	7	7p21	IL6	22733322	22738141	n	Dring A.M. 2001	11167813	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			British journal of haematology. 2001 Jan;112(1):249-51			147620	7165	1	2001												
140324	N	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141	n	Fugger L. 1989	2577114	MspI.BglII	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Denmark	KGB	3569	Hs.512234			Journal of immunogenetics. 1989 Dec;16(6):461-5			147620	7166	1	1989												
140325		Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7p21	IL6	22733322	22738141		Pascual M. 2000	11196696	-796	influence on disease onset		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 2000 Jun;1(5):338-40			147620	7167	1	2000												
140327		Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7p21	IL6	22733322	22738141		Crilly A. 2001	11145851	VNTR	weak association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Cytokine. 2001 Jan;13(2):109-12			147620	7169	1	2001												
140328		Juvenile rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	7	7p21	IL6	22733322	22738141		Fishman D. 1998	9769329	-174	significant association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		London	KGB	3569	Hs.512234			The Journal of clinical investigation. 1998 Oct;102(7):1369-76			147620	7170	1	1998												
140329	N	Juvenile rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141	n	Fugger L. 1989	2577114	MspI.BglII	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Denmark	KGB	3569	Hs.512234			Journal of immunogenetics. 1989 Dec;16(6):461-5			147620	7171	1	1989												
140330	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	7	7p21	IL6	22733322	22738141	n	Schmidt S 2000	11072134	3`flanking region of the IL-6 gene (C allele)		3`untranslated	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Neuroscience letters. 2000 Nov;294(3):139-42			147620	7172	1	2000												
140331		Atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis	7	7p21	IL6	22733322	22738141		Rauramaa R. 2000	11116068	-174	association with intima-media thickness		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Finland	KGB	3569	Hs.512234			Arteriosclerosis, thrombosis, and vascular biology. 2000 Dec;20(12):2657-62	Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis.		147620	7173	1	2000	These data suggest that genetic factors that predispose to reduced matrix remodeling (stromelysin 6A allele) and to increased inflammation (IL-6 G allele) combine to increase susceptibility for intima-media thickening in the carotid bifurcation, a predilection site for atherosclerosis.	Cohort 109 randomly selected, middle-aged men without exercise-induced ischemia	smoking (tobacco)	IL6	G	MMP3	6A			Y		carotid atherosclerosis
140332	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	7	7p21	IL6	22733322	22738141	0.025	Vandenbroeck K 2000	11196678	carriage larger alleles A6-->A9. accelerated onset		3`untranslated	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Sardinian	Italy	KGB	3569	Hs.512234			Genes and immunity. 2000 Oct;1(7):460-3			147620	7174	1	2000												
140333	N	Systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141	n	Fugger L. 1989	2577114	MspI.BglII	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Denmark	KGB	3569	Hs.512234			Journal of immunogenetics. 1989 Dec;16(6):461-5			147620	7175	1	1989												
140335		Severe sepsis in blunt trauma	INFECTION	INF	Sepsis|Wounds and Injuries	7	7p21	IL6	22733322	22738141	NS	Heesen M 2002	11956023	IL6 G(-174)C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Blunt trauma pts		KGB	3569	Hs.512234	blunt trauma		European cytokine network. 2002 Jan-Mar;13(1):72-7			147620	7177	1	2002												
140337		Longevity	AGING	AGE	Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Bonafe M 2001	11500818	``-174 C/G and C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			TJB	3569	Hs.512234			European journal of immunology. 2001 Aug;31(8):2357-61			147620	7179	1	2001												
140338		Lipid metabolism	METABOLIC	MET	Lipid Metabolism, Inborn Errors|Insulin Resistance	7	7p21	IL6	22733322	22738141		Fernandez-Real J.M. 2000	10720087	-174	association with lipid abnormalities		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2000 Mar;85(3):1334-9			147620	7180	1	2000												
140339		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Jahromi M.M. 2000	11054276	-174	significant association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of interferon & cytokine research. 2000 Oct;20(10):885-8			147620	7181	1	2000												
140340	N	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7p21	IL6	22733322	22738141	n	Blankenstein T. 1989	2573887	BglII	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Nucleic acids research. 1989 Nov;17(21):8902			147620	7182	1	1989												
140341	N	Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7p21	IL6	22733322	22738141	n	Bagli M. 2000	10632118	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Annals of neurology. 2000 Jan;47(1):138-9			147620	7183	1	2000												
140342	N	Cardiac hypertrophy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	7	7p21	IL6	22733322	22738141	n	Patel R. 2000	11113012	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of molecular and cellular cardiology. 2000 Dec;32(12):2369-77			147620	7184	1	2000												
140343		Bone Mineralization	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Takacs I. 2000	10865225	VNTR	no linkage or association with bone mineral density		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Bone. 2000 Jul;27(1):169-73			147620	7185	1	2000												
140345		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7p21	IL6	22733322	22738141		Pascual M 2000	11196696	-622 and -174 alleles. age of onset		5`promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 2000 Jun;1(5):338-40			147620	7187	1	2000												
140346	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Obesity	7	7p21	IL6	22733322	22738141	P=0.048	Humphries SE 2001	11728144	interleukin-6 -174 G/C promoter polymorphism	-174C Higher plasma levels of IL6	5`promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		London	KGB	3569	Hs.512234			European heart journal. 2001 Dec;22(24):2243-52			147620	7188	1	2001	 These data confirm the importance of the inflammatory system in the development of coronary heart disease. They suggest that, at least in part, the effect of the IL-6 -174G>C polymorphism on blood pressure is likely to be operating through inflammatory mechanisms, but the genotype effect on coronary heart disease risk is largely unexplained by its effect on blood pressure. The molecular mechanisms whereby genetically determined differences in plasma levels of IL-6 are having these effects remain to be determined.											
140347		Plasma IL6 levels	OTHER	OTH		7	7p21	IL6	22733322	22738141		Kilpinen S. 2001	11282548	-174	influence of plasma IL6 levels on newborns		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			European cytokine network. 2001 Mar;12(1):62-8			147620	7189	1	2001												
140350		IL6 transcription	OTHER	OTH		7	7p21	IL6	22733322	22738141		Terry C.F. 2000	10747905	-1716	influence on transcriptional regulation		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			The Journal of biological chemistry. 2000 Jun;275(24):18138-44			147620	7192	1	2000												
140351		Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Inflammation	7	7p21	IL6	22733322	22738141		Licastro F. 2000	10674995	VNTR	significant association and influence on age of onset		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of neuroimmunology. 2000 Feb;103(1):97-102	Increased plasma levels of interleukin-1, interleukin-6 and alpha-1-antichymotrypsin in patients with Alzheimer's disease: peripheral inflammation or signals from the brain?		147620	7193	1	2000												
140352	Y	Inflamatory Bowel disease	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	7	7p21	IL6	22733322	22738141		Schulte C.M. 2000	11040178	D7S629	association with rate of bone loss during IBD		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		147620	7194	1	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
140353	N	Multiple myeloma	CANCER	CAN	Multiple Myeloma|Monoclonal Gammopathies, Benign	7	7p21	IL6	22733322	22738141	n	Zheng C. 2000	10848780	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			British journal of haematology. 2000 Apr;109(1):39-45			147620	7195	1	2000												
140354		Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7p21	IL6	22733322	22738141		Bagli M. 2000	10632118	VNTR	significant association and influence on age of onset		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Annals of neurology. 2000 Jan;47(1):138-9			147620	7196	1	2000												
140355	N	Inflamatory Bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Klein W. 2001	11204808	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			European journal of gastroenterology & hepatology. 2001 Jan;13(1):45-7			147620	7197	1	2001	 High secretion of IL-6 does not seem to play a major role in the genetic predisposition to IBD.											
140357	Y	Bone Mineralization	METABOLIC	MET	Bone Resorption	7	7p21	IL6	22733322	22738141		Ferrari S.L. 2001	11212160	-174	association with lower decrease in bone mass		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Arthritis and rheumatism. 2001 Jan;44(1):196-201	A functional polymorphic variant in the interleukin-6 gene promoter associated with low bone resorption in postmenopausal women		147620	7199	1	2001	 Compared with the GC and GG IL-6 -174 G-->C genotypes, the CC genotype is associated with lower bone resorption and lesser decrease in bone mass in older postmenopausal women. These results suggest that IL-6 -174 G-->C alleles may be significant determinants of the risk for osteoporosis in elderly subjects.	Cohort 434 healthy women living in the community										
140358		Plasma IL6 levels	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	7	7p21	IL6	22733322	22738141		Fishman D. 1998	9769329	-174	association with plasma IL6 levels		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		London	KGB	3569	Hs.512234			The Journal of clinical investigation. 1998 Oct;102(7):1369-76			147620	7200	1	1998												
140359		Multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	7	7p21	IL6	22733322	22738141		Schmidt S. 2000	11072134	VNTR	no association with disease risk. association with disease course		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Neuroscience letters. 2000 Nov;294(3):139-42			147620	7201	1	2000												
140360		Bone Mineralization	METABOLIC	MET	Body Weight	7	7p21	IL6	22733322	22738141		Lorentzon M. 2000	11028446	-174	association with bone mineral density in healthy males		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Sweden	KGB	3569	Hs.512234			Journal of bone and mineral research. 2000 Oct;15(10):1944-9			147620	7202	1	2000												
140361		Bone Mineralization	METABOLIC	MET	Osteoporosis|Body Weight	7	7p21	IL6	22733322	22738141		Tsukamoto K. 1999	10319577	microsatellite markers	association with bone mineral density		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	KGB	3569	Hs.512234			Journal of human genetics. 1999 ;44(3):148-51			147620	7203	1	1999												
140365	Y	Type 2 diabtes	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p21	IL6	22733322	22738141	0.019	Vozarova B 2003	12589429	(G/C) at position -174		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Native Americans and Caucasians		KEW	3569	Hs.512234			Human genetics. 2003 Apr;112(4):409-13	The interleukin-6 (-174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians.		147620	7207	1	2003		Case:143 (NA) and 211 (C); Control:145 (NA) and 118 (C)										
140366	N	Chronic lymphocytic leukemia	OTHER	OTH	Leukemia, Lymphocytic, Chronic	7	7p21	IL6	22733322	22738141	n	Hulkkonen J. 2000	10870116	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Haematologica. 2000 Jun;85(6):600-6			147620	7208	1	2000	 Our data demonstrate that in B-CLL, plasma levels of IL-1 beta, IL-1Ra and IL-6 differ from normal, and mechanisms other than allelic imbalance of their genes account for the distinct cytokine profiles observed in this disease.											
140367	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	7	7p21	IL6	22733322	22738141		Garnero P et al. 2002	12110411				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Bone. 2002 Jul;31(1):43-50	Association between a functional interleukin-6 gene polymorphism and peak bone mineral density and postmenopausal bone loss in women: the OFELY study.		147620	7209	1	2002	We conclude that  this new functional IL-6 polymorphism was weakly associated with level of peak BMD and the rate of forearm trabecular postmenopausal bone loss in this cohort of healthy French women. IL-6 genotypes accounted only for a small proportion of the interindividual variation of both peak BMD and rate of bone loss and were not significant after adjustment for height and changes in body weight, respectively, suggesting that part of the effect may have been due to the differences in body size. Larger long-term studies are necessary to assess adequately the relationships between IL-6 genotype, rate of bone loss, and risk of fracture.											
140368	Y	long-term kidney allograft survival	OTHER	OTH	Kidney Failure, Chronic	7	7p21	IL6	22733322	22738141		Muller-Steinhardt M et al. 2002	12371985			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Kidney international. 2002 Nov;62(5):1824-7	The interleukin-6 -174promoter polymorphism is associated with long-term kidney allograft survival.		147620	7210	1	2002	 Since the clinical impact on transplant outcome seems as important as matching for histocompatibility antigens, genotyping of the IL-6 -174polymorphism may offer a new method for identifying patients at increased risk of allograft loss.											
140369		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Shibata N et al. 2002	11992567				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	KGB	3569	Hs.512234			American journal of medical genetics. 2002 May;114(4):436-9	Effect of IL-6 polymorphism on risk of Alzheimer disease: genotype-phenotype association study in Japanese cases.		147620	7211	1	2002												
140371	Y	bone mineral density	METABOLIC	MET		7	7p21	IL6	22733322	22738141		Gohda T et al. 2002	12036196				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Clinical nephrology. 2002 May;57(5):365-70	An (CA)n dinucleotide repeat polymorphism of the interleukin-6 (IL-6) gene is associated with metacarpal bone mineral density in hemodialysis patients.		147620	7213	1	2002												
140372	Y	bone mineral density	METABOLIC	MET	Osteoporosis	7	7p21	IL6	22733322	22738141		Ota N et al. 2001	11355017			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	KGB	3569	Hs.512234			Journal of human genetics. 2001 ;46(5):267-72	A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density.		147620	7214	1	2001	Given the several lines of evidence from different genetic studies, we suggest that IL6 is, indeed, one of the genes affecting bone metabolism, in which variations can lead to osteoporosis.	Cohort population sample Japan										
140373	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Hypertension	7	7p21	IL6	22733322	22738141	n	Dahlqvist SR et al. 2002	12428254				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Sweden	KGB	3569	Hs.512234			Arthritis and rheumatism. 2002 Nov;46(11):3096-8	Tumor necrosis factor receptor type II (exon 6) and interleukin-6 (-174) gene polymorphisms are not associated with family history but tumor necrosis factor receptor type II is associated with hypertension in patients with rheumatoid arthritis from northe		147620	7215	1	2002												
140375	Y	hyperandrogenism	METABOLIC	MET	Obesity|Hyperandrogenism	7	7p21	IL6	22733322	22738141		Villuendas G et al. 2002	11889177			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2002 Mar;87(3):1134-41	The -597 G-->A and -174 G-->C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism.		147620	7217	1	2002												
140376	N	Kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Acute Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Sohn MH et al. 2001	11704800			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 2001 Nov;2(7):357-62	Interleukin 6 gene promoter polymorphism is not associated with Kawasaki disease.		147620	7218	1	2001												
140378	N	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	7	7p21	IL6	22733322	22738141	n	Nauck M et al. 2002	12185451	G(-174)C		promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of molecular medicine (Berlin, Germany). 2002 Aug;80(8):507-13	The interleukin-6 G(-174)C promoter polymorphism in the LURIC cohort: no association with plasma interleukin-6 coronary artery disease and myocardial infarction.		147620	7220	1	2002	We conclude that  the IL-6 G(-174)C polymorphism is not associated with the risk of CAD or MI and does not contribute to cardiovascular risk stratification.											
140379	N	Autoimmune thyroid disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	7	7p21	IL6	22733322	22738141	n	Hunt P.J. 2000	10843185	3247	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2000 May;85(5):1984-8			147620	7221	1	2000												
140380	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141	0.001	Linker-Israeli M 1999	11197305	AT-rich minisatellite in 3` flanking region		3`untranslated	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 1999 Sep;1(1):45-52			147620	7222	1	1999												
140381		Inflamatory Bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	7	7p21	IL6	22733322	22738141		Koss K. 2000	11196713	+4470.VNTR	modest association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 2000 Feb;1(3):207-12			147620	7223	1	2000												
140382	N	Coronary Atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141	n	Elghannam H 2000	11199329	``-174G/C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			TJB	3569	Hs.512234			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		147620	7224	1	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study	fluvastatin									
140383	N	Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Bhojak T.J. 2000	10869806	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Neuroscience letters. 2000 Jul;288(1):21-4			147620	7225	1	2000												
140384		Alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7p21	IL6	22733322	22738141		Papassotiropoulos A. 1999	10319892	VNTR	significant association and influence on age of onset		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Annals of neurology. 1999 May;45(5):666-8			147620	7226	1	1999												
140385	Y	Bone Mineralization	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	7	7p21	IL6	22733322	22738141		Schulte C.M. 2000	11040178	D7S629	association with rate of bone loss during IBD		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		147620	7227	1	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
140386	N	Human Longevity	AGING	AGE		7	7p21	IL6	22733322	22738141	n	Wand XY 2001	11640949	IL6- 174			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Finnish Nonagenarians		KGB	3569	Hs.512234			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			147620	7228	1	2001		Case:250; Control:400										
140388		Kaposi sarcoma	OTHER	OTH	Sarcoma, Kaposi|HIV Infections|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Foster C.B. 2000	11001912	-174	association with lifetime risk		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Blood. 2000 Oct;96(7):2562-7			147620	7230	1	2000												
140389		Systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141		Linker-Israeli M. 1999	11197305	-174.VNTR	VNTR associated with disease and showed biological significance		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Genes and immunity. 1999 Sep;1(1):45-52			147620	7231	1	1999												
140390	Y	levels of antibodies to 60-kDa heat-shock proteins	OTHER	OTH		7	7p21	IL6	22733322	22738141		Veres A et al. 2002	11862386			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Immunogenetics. 2002 Feb;53(11-Oct):851-6	The promoter polymorphism of the IL-6 gene is associated with levels of antibodies to 60-kDa heat-shock proteins.		147620	7232	1	2002												
140392	N	recurrent pregnancy loss	OTHER	OTH	Abortion, Habitual	7	7p21	IL6	22733322	22738141	n	Daher S 2003	12609526				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Brazil	KEW	3569	Hs.512234			Journal of reproductive immunology. 2003 Feb;58(1):69-77			147620	7234	1	2003		Case:48; Control:108										
140393	N	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7p21	IL6	22733322	22738141	n	Bennet et al	14644408	-174C allele	The -174C allele was associated with lower serum-insulin levels among male controls but did not significantly influence MI risk or IL-6 levels	5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	MI cases and healthy controls		A Bennet	3569	Hs.512234	Interleukin-6 serum levels		Atherosclerosis. 2003 Dec;171(2):359-67	Interleukin-6 serum levels and genotypes influence the risk for myocardial infarction		147620	7235	1	2003	 Elevated IL-6 levels are important risk markers for MI in men, the risk being further enhanced through synergistic interaction with hypercholesterolaemia. The data provide no clear evidence that polymorphisms in the IL-6 promotor region play a significant role in the pathogenesis of MI, and it remains to be further evaluated whether or not the -174C allele is of relevance for insulin resistance.	Case:1179; Control:1528										
140394	Y	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	7	7p21	IL6	22733322	22738141	0.0073	Landi et al. 2003	12839942	-174 G>C		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Spanish	Spain	GAN (IARC) and GRG (University of Pisa)	3569	Hs.512234			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		147620	7236	1	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
140395	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	7	7p21	IL6	22733322	22738141	0.019	Kristiansen OP et al. 2003	12719374	IL6-174G/C promoter polymorphism		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Danish		Y Wang	3569	Hs.512234			Human molecular genetics. 2003 May;12(10):1101-10	Association of a functional 17beta-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females.		147620	7237	1	2003												
140396	Y	ageing	AGING	AGE	Carotid Artery Diseases|Carotid Stenosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Giacconi R 2004	15050298	IL-6 ?174 promoter CG or CC (C+) GG (C?) genotype	GG (C?) genotype has higher IL-6 than CG or CC (C+) carriers.	5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234	atherosclerosis		Experimental gerontology. 2004 Apr;39(4):621-8	The -174G/C polymorphism of IL-6 is useful to screen old subjects at risk for atherosclerosis or to reach successful ageing.		147620	7238	1	2004												
140398	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Hirashiki A 2003	14563588	634C3G			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	KGB	3569	Hs.512234			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		147620	7240	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
140400	Y	postoperative systemic inflammatory reaction	IMMUNE	IMM	Lung Diseases|Kidney Diseases|Inflammation|Postoperative Complications	7	7p21	IL6	22733322	22738141		Gaudino M 2003	14566255	-174 G/C		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234	A correlation was found between postoperative interleukin 6 levels and renal and pulmonary complications		The Journal of thoracic and cardiovascular surgery. 2003 Oct;126(4):1107-12	Genetic control of postoperative systemic inflammatory reaction and pulmonary and renal complications after coronary artery surgery.		147620	7242	1	2003	 The interleukin 6 -174 G/C polymorphism modulates postoperative interleukin 6 levels and is associated with the degree of postoperative renal and pulmonary dysfunction and in-hospital stay after coronary surgery.											
140401		septicemia in preterm infants	OTHER	OTH	Sepsis|Genetic Predisposition to Disease|Diseases in Twins	7	7p21	IL6	22733322	22738141		Harding D 2003	14523169	-174			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		England	KGB	3569	Hs.512234			Pediatrics. 2003 Oct;112(4):800-3	Is interleukin-6 -174 genotype associated with the development of septicemia in preterm infants?		147620	7243	1	2003	 Variation in the IL-6 gene seems to influence the defense against bacterial pathogens in the very preterm infant.											
140402	Y	coronary artery disease	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141	0.0001	Georges JL 2003	12943869	IL6/G-174C		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234	systemic inflammation high pathogen burden		The American journal of cardiology. 2003 Sep;92(5):515-21	Impact of pathogen burden in patients with coronary artery disease in relation to systemic inflammation and variation in genes encoding cytokines.		147620	7244	1	2003												
140404		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Licastro F 2003	12928051				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Italy	KGB	3569	Hs.512234			Neurobiology of aging. 2003 Nov;24(7):921-6	Interleukin-6 gene alleles affect the risk of Alzheimer's disease and levels of the cytokine in blood and brain.		147620	7246	1	2003												
140405	Y	subclinical carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases	7	7p21	IL6	22733322	22738141		Chapman CM 2003	12919773				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	australian community population	Western Australia	KGB	3569	Hs.512234			European heart journal. 2003 Aug;24(16):1494-9	Association of an allelic variant of interleukin-6 with subclinical carotid atherosclerosis in an Australian community population.		147620	7247	1	2003	 This study shows that the IL-6 -174G>C variant is independently associated with carotid plaque formation in the whole population and an increased carotid IMT in older subjects within a randomly selected, cross-sectional Australian population.											
140406		Gaucher disease	OTHER	OTH	Gaucher Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Altarescu G 2003	12897342			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			QJM. 2003 Aug;96(8):575-8	The interleukin-6 promoter polymorphism in Gaucher disease: a new modifier gene?		147620	7248	1	2003												
140407	Y	bone mineral density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Yamada Y 2003	12843190				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	KGB	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3372-8	Association of polymorphisms of interleukin-6, osteocalcin~~~ and vitamin D receptor genes~~~ alone or in combination~~~ with bone mineral density in community-dwelling Japanese women and men.		147620	7249	1	2003	These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.	Cohort Japanese women and men aged 40-79 yr										
140409	Y	Brain aging	AGING	AGE		7	7p21	IL6	22733322	22738141		Elwan O 2003	12767492				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of the neurological sciences. 2003 Jul;211(2-Jan):15-22	Brain aging in normal Egyptians: cognition, education, personality, genetic and immunological study.		147620	7251	1	2003												
140410		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141		Linker-Israeli M 1996	8879455				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			Y Wang	3569	Hs.512234			Autoimmunity. 1996 ;23(3):199-209	A greater variability in the 3' flanking region of the IL-6 gene in patients with systemic lupus erythematosus (SLE).		147620	7252	1	1996												
140411		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Mohlig M 2004	15070960				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			Y Wang	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2004 Apr;89(4):1885-90	Body mass index and C-174G interleukin-6 promoter polymorphism interact in predicting type 2 diabetes.		147620	7253	1	2004												
140412	N	noncardia gastric cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Zambon CF 2004	14753224	?174 G/C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Gastroenterology. 2004 Jan;126(1):382-4	Increased risk of noncardia gastric cancer associated with proinflammatory cytokine gene polymorphisms.		147620	7254	1	2004												
140413		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Holla LI 2004	15025214			5' promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Czech		KGB	3569	Hs.512234			Journal of periodontology. 2004 Jan;75(1):30-6	Analysis of the interleukin-6 gene promoter polymorphisms in Czech patients with chronic periodontitis.		147620	7255	1	2004	 This study is the first, to our knowledge, suggesting that the -572 G/C polymorphism of the IL-6 gene may be one of the protective factors associated with lower susceptibility to chronic periodontitis.											
140414		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p21	IL6	22733322	22738141		Iacopetta B 2004	14735187	-174 G/C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			British journal of cancer. 2004 Jan;90(2):419-22	The -174 G/C gene polymorphism in interleukin-6 is associated with an aggressive breast cancer phenotype.		147620	7256	1	2004	We conclude that  the -174 C allele of IL-6 is associated with a more aggressive breast cancer phenotype.											
140415		plasma IL-6 levels	CARDIOVASCULAR	CARD		7	7p21	IL6	22733322	22738141	0.04	Kelberman D 2004	14990346	A8T12; A9T11; A10T11; and A10T10 AND (-597G>A, -572G>C and -174G>C)		5' promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234	coronary artery bypass graft surgery		Biochimica et biophysica acta. 2004 Mar;1688(2):160-7	Analysis of common IL-6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgery.		147620	7257	1	2004												
140416		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Disease Progression|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Kitamura A 2002	12647840	-634C/G			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese		Y Wang	3569	Hs.512234	Complications		Diabetic medicine. 2002 Dec;19(12):1000-5	Interleukin-6 polymorphism (-634C/G) in the promotor region and the progression of diabetic nephropathy in type 2 diabetes.		147620	7258	1	2002	 These results suggest that the IL-6-634C/G polymorphism may be a possible genetic susceptibility factor for the progression of diabetic nephropathy.											
140418	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7p21	IL6	22733322	22738141		Depboylu C 2004	14739540			5' promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Dementia and geriatric cognitive disorders. 2004 ;17(3):170-3	An interleukin-6 promoter variant is not associated with an increased risk for Alzheimer's disease.		147620	7260	1	2004	We conclude that  IL-6 (-174) polymorphism does not influence the risk of developing AD in our cohort.											
140419	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7p21	IL6	22733322	22738141		pascual M, et al 2000	11196696			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Spanish		Javier Martin	3569	Hs.512234			Genes and immunity. 2000 Jun;1(5):338-40	IL-6 promoter polymorphisms in rheumatoid arthritis		147620	7261	1	2000		Case:163; Control:157										
140420	N	Frailty in older women	AGING	AGE		7	7p21	IL6	22733322	22738141		Walston JE 2005	15820616	rs1800795		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Women's Health and Aging cohorts AND the In Chianti population		KGB	3569	Hs.512234	muscle, weakness		Experimental gerontology. 2005 Apr;40(4):344-52	IL-6 gene variation is not associated with increased serum levels of IL-6, muscle, weakness, or frailty in older women.		147620	7262	1	2005												
140421	Y	Longevity	AGING	AGE		7	7p21	IL6	22733322	22738141	0.046	Hurme M 2005	15664628	-174G or C	-174C low IL6; -174G high IL6 Fishman, D 98 PMUID:9769329	5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Finnish		KGB	3569	Hs.512234	inflammation		Mechanisms of ageing and development. 2005 Mar;126(3):417-8	Interleukin-6 -174G/C polymorphism and longevity: a follow-up study.		147620	7263	1	2005		Case:285 nonagenarians										
140422	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Jahromi, M. M.  et al. 2000	11054276			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of interferon & cytokine research. 2000 Oct;20(10):885-8	A polymorphism in the promoter region of the gene for interleukin-6 is associated with susceptibility to type 1 diabetes mellitus.		147620	11844	2	2000	In conclusion, these results suggest that the IL-6 gene may contribute to the genetic susceptibility to type 1 diabetes.	Control:120 normal, healthy controls;Case:257 Caucasoid patients with type 1 diabetes										
140423		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis	7	7p21	IL6	22733322	22738141		Rauramaa, R.  et al. 2000	11116068			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Finland	CDC GDPinfo	3569	Hs.512234			Arteriosclerosis, thrombosis, and vascular biology. 2000 Dec;20(12):2657-62	Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis.		147620	11845	2	2000	These data suggest that genetic factors that predispose to reduced matrix remodeling (stromelysin 6A allele) and to increased inflammation (IL-6 G allele) combine to increase susceptibility for intima-media thickening in the carotid bifurcation, a predilection site for atherosclerosis.	Cohort 109 randomly selected, middle-aged men without exercise-induced ischemia 	smoking (tobacco)	IL6	G	MMP3	6A			Y		carotid atherosclerosis
140424		stroke, lacunar	OTHER	OTH	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Hypertension|Diabetes Mellitus|Hyperlipidemias|Diabetes Complications|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Revilla, M.  et al. 2002	11983287	(-174G/C)			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Neuroscience letters. 2002 May;324(1):29-32	A -174G/C polymorphism of the interleukin-6 gene in patients with lacunar infarction.		147620	11854	2	2002	These findings suggest that lacunar stroke might result from genetic susceptibility to inflammation-mediated damage in concert with atherosclerotic risk factors.	Case:82 patients with lacunar stroke;Control:82 age- and sex-matched cohort of asymptomatic:controls										
140426	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	7	7p21	IL6	22733322	22738141		Unfried, G.  et al. 2003	12571160			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human reproduction (Oxford, England). 2003 Feb;18(2):267-70	A polymorphism of the interleukin-6 gene promoter and idiopathic recurrent miscarriage.		147620	11866	2	2003	 This is the first report on an IL-6 polymorphism in IRM. Although known to alter IL-6 expression, the IL-6 polymorphism investigated was not associated with IRM and alterations in IL-6 serum levels in a Middle-European Caucasian population.	Control:124 healthy controls;Case:161 Middle-European Caucasian women with idiopathic recurrent miscarriage										
140427		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p21	IL6	22733322	22738141		Belluco, C.  et al. 2003	12796383	(-174G/C)		promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Clinical cancer research. 2003 Jun;9(6):2173-6	-174 G>C polymorphism of interleukin 6 gene promoter affects interleukin 6 serum level in patients with colorectal cancer.		147620	11870	2	2003	 In patients with CRC, the -174 G>C polymorphism status of the IL-6 gene promoter affects the IL-6 serum level, particularly in the presence of hepatic metastasis.	Cohort 62 stage I-IV colorectal cancer patients 										
140428		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141			12815949				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Bashkiria	CDC GDPinfo	3569	Hs.512234			Molekuliarnaia biologiia. 2003 May-Jun;37(3):420-4	[Molecular genetic analysis of the interleukin 6 and tumor necrosis factor alpha gene polymorphisms in multiple myeloma]		147620	11871	2	2003	On this evidence, the polymorphic variants of the cytokine genes were assumed to have no effect on predisposition to MM. As for MM progression, genotype CC of the IL-6 gene was associated with milder clinical signs in patients from Bashkortostan.	Cohort 69 multiple myeloma patients Bashkortostan 										
140429	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	7	7p21	IL6	22733322	22738141		Landi, S.  et al. 2003	12839942				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Spain	CDC GDPinfo	3569	Hs.512234			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		147620	11873	2	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
140431	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	7	7p21	IL6	22733322	22738141		Walch, K.  et al. 2004	15193488			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Fertility and sterility. 2004 Jun;81(6):1638-41	A common interleukin-6 gene promoter polymorphism influences the clinical characteristics of women with polycystic ovary syndrome.		147620	11886	2	2004	 A common polymorphism of the IL6 promoter, although not associated with the presence of PCOS, is associated with the clinical characteristics of women affected by this condition.	Case:62 patients with polycystic ovary syndrome;Control:94 healthy controls										
140432	Y	lipids; C-reactive protein; obesity; glucose; leptin	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Wernstedt, I.  et al. 2004	15303107			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			International journal of obesity and related metabolic disorders. 2004 Oct;28(10):1272-9	A common polymorphism in the interleukin-6 gene promoter is associated with overweight.		147620	11892	2	2004	 Genetically determined individual differences in production of IL-6 may be relevant for the regulation of body fat mass.	Cohort 485/74 hypertensive individuals (mean age 57 y, 73% males, n=485) and 20 y younger nonobese healthy females (n=74) 										
140433		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	7	7p21	IL6	22733322	22738141		Linsingen, R.  et al. 2005	15790343				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Brazil	CDC GDPinfo	3569	Hs.512234			American journal of reproductive immunology (New York, NY :  1989). 2005 Feb;53(2):94-9	A case-control study in IL6 and TGFB1 gene polymorphisms and recurrent spontaneous abortion in southern Brazilian patients.		147620	11903	2	2005	 This result strengthened the importance of IL6 genotypes in the pathogenesis of RSA of unknown cause in the south Brazilian population.	Case:57 south Brazilian women, with unexplained recurrent spontaneous abortion south Brazil;Control:74 carefully matched controls										
140434	Y	neonatal infection	INFECTION	INF	Pregnancy Complications, Infectious	7	7p21	IL6	22733322	22738141		Wojsyk-Banaszak, I.  et al. 2005	15847080	(-174G/C)			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Ginekologia polska. 2005 Feb;76(2):127-34	[The significance of -174G/C polymorphism of the gene coding for interleukin-6 in neonatal infections]		147620	11905	2	2005	 The presence of the C allele in the -174 position in the gene coding for IL-6 could play a role in the pathology of neonatal infection following IAI in the mother and probably is connected with decreased of immunological reaction.	Case:21 neonates diagnosed with intrauterine infection;Control:41 healthy neonates										
140436		vulvar cancer	CANCER	CAN	Neoplasms, Squamous Cell|Vulvar Neoplasms	7	7p21	IL6	22733322	22738141		Grimm, C.  et al. 2005	16198606			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of the Society for Gynecologic Investigation. 2005 Dec;12(8):617-20	A Common Interleukin-6 Promoter Polymorphism in Patients With Vulvar Cancer.		147620	11915	2	2005	 Our data suggest that the IL6 -174(G-->C) promoter polymorphism might serve as an additional prognostic parameter in patients with vulvar cancer.											
140437	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141			16313297				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			International journal of immunogenetics. 2005 Dec;32(6):343-7	Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-alpha) gene polymorphisms and Graves' disease		147620	11917	2	2005												
140438		idiopathic pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Disease Progression|Inflammation	7	7p21	IL6	22733322	22738141		Pantelidis, P.  et al. 2001	11371414				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Great Britain	CDC GDPinfo	3569	Hs.512234			American journal of respiratory and critical care medicine. 2001 May;163(6):1432-6	Analysis of tumor necrosis factor-alpha, lymphotoxin-alpha, tumor necrosis factor receptor II, and interleukin-6 polymorphisms in patients with idiopathic pulmonary fibrosis.		147620	14400	2	2001	These findings, if independently confirmed, will be the first to suggest that disease progression in IPF may be linked to a particular genetic marker or to functional polymorphisms in other genes near that marker.	Case Idiopathic pulmonary fibrosis subjects;Control normal control population										
140440		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7p21	IL6	22733322	22738141		Kruger, R.  et al. 2000	11072751				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Germany	CDC GDPinfo	3569	Hs.512234			J Neural Transm. 2000 ;107(5):553-62	Genetic analysis of immunomodulating factors in sporadic Parkinson's disease		147620	17764	2	2000	suggested involvement of immunomodulating factors in the pathogenesis of sporadic PD as revealed by a molecular genetic approach.	Control:183 age and sex matched healthy controls:Germany;Case:264 sporadic PD patients:Germany										
140441	Y	bone density	METABOLIC	MET	Bone Resorption	7	7p21	IL6	22733322	22738141		Ferrari, S. L.  et al. 2001	11212160			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Arthritis and rheumatism. 2001 Jan;44(1):196-201	A functional polymorphic variant in the interleukin-6 gene promoter associated with low bone resorption in postmenopausal women		147620	17765	2	2001	 Compared with the GC and GG IL-6 -174 G-->C genotypes, the CC genotype is associated with lower bone resorption and lesser decrease in bone mass in older postmenopausal women. These results suggest that IL-6 -174 G-->C alleles may be significant determinants of the risk for osteoporosis in elderly subjects.	Cohort 434 healthy women living in the community 										
140442	Y	bone density	METABOLIC	MET	Osteoporosis	7	7p21	IL6	22733322	22738141		Ota, N.  et al. 2001	11355017			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	CDC GDPinfo	3569	Hs.512234			Journal of human genetics. 2001 ;46(5):267-72	A nucleotide variant in the promoter region of the interleukin-6 gene associated with decreased bone mineral density.		147620	17767	2	2001	Given the several lines of evidence from different genetic studies, we suggest that IL6 is, indeed, one of the genes affecting bone metabolism, in which variations can lead to osteoporosis.	Cohort population sample Japan 										
140443	Y	intima-media thickness, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis	7	7p21	IL6	22733322	22738141		Rundek, T.  et al. 2002	11988625				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		New York City	CDC GDPinfo	3569	Hs.512234			Stroke; a journal of cerebral circulation. 2002 May;33(5):1420-3	Carotid intima-media thickness is associated with allelic variants of stromelysin-1, interleukin-6, and hepatic lipase genes: the Northern ManhattanProspective Cohort Study.		147620	17769	2	2002	 Carotid IMT is higher among subjects homozygous for functional variants in genes related to matrix deposition (MMP3 -16126A), inflammation (IL6 -174G), and lipid metabolism (HL -480C). These associations were independent of race-ethnicity and some environmental exposures. Further studies are needed to confirm these genotype-phenotype associations.	Cohort 87 subjects (mean age, 70+/-12 years; 55% women; 60% Caribbean-Hispanic, 25% black, and 13% white) from the Northern Manhattan Prospective Cohort Study 										
140444	Y	body mass	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Stephens, J. W.  et al. 2004	15172007				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Great Britain	CDC GDPinfo	3569	Hs.512234			Molecular genetics and metabolism. 2004 Jun;82(2):180-6	A common functional variant in the interleukin-6 gene is associated with increased body mass index in subjects with type 2 diabetes mellitus.		147620	17777	2	2004	The increased cardiovascular risk associated with the -174C allele may account for the lower frequency of this allele in those with type 2 diabetes.	Cohort 571 Caucasian subjects with type 2 diabetes 										
140445		obesity; weight loss	METABOLIC	MET	Obesity, Morbid|Weight Loss	7	7p21	IL6	22733322	22738141		Poitou, C.  et al. 2005	15760495				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Obesity surgery. 2005 Jan;15(1):23-Nov	Relationship between single nucleotide polymorphisms in leptin, IL6 and adiponectin genes and their circulating product in morbidly obese subjects before and after gastric banding surgery.		147620	22589	2	2005	 We observed that the SNPs studied could modulate the concentration of adiposity signals not only at baseline but also during weight loss. Such variations may be sensed by the homeostatic feedback system that controls energy balance and may in turn contribute to some disturbances in weight regulation.	Cohort 65 obese patients undergoing gastric banding surgery 										
140446	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Yamada, Y.  et al. 2003	12843190				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	CDC GDPinfo	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3372-8	Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men.		147620	22590	2	2003	These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.	Cohort Japanese women and men aged 40-79 yr 										
140448		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Proteinuria|Graft vs Host Disease|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Viklicky, O.  et al. 2004	15369724				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Clinical biochemistry. 2004 Oct;37(10):919-24	Association of methylenetetrahydrofolate reductase T677 allele with early development of chronic allograft nephropathy		147620	22592	2	2004	 The MTHFR T677 allele is associated with the presence of CAN in kidney graft biopsies 12 months after transplantation.	Control:365 normal controls;Case:92 kidney transplant recipients with stable renal fraft function and no signs of acute rejection										
140449		atherosclerosis	CARDIOVASCULAR	CARD	Infection|Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141		Elghannam, H.  et al. 2000	11199329				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of molecular medicine (Berlin, Germany). 2000 ;78(10):562-8	A prospective study of genetic markers of susceptibility to infection and inflammation, and the severity, progression, and regression of coronary atherosclerosis and its response to therapy		147620	22593	2	2000	Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the susceptibility to infection, are unlikely to confer major risk for susceptibility to coronary atherosclerosis and its progression or response to therapy in the LCAS population.	Cohort 375 subjects enrolled in the Lipoprotein and Coronary Atherosclerosis Study 	fluvastatin									
140450		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease|Inflammation|Postoperative Complications	7	7p21	IL6	22733322	22738141		Grocott, H. P.  et al. 2005	16051899				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1854-8	Genetic polymorphisms and the risk of stroke after cardiac surgery.		147620	22594	2	2005	 We demonstrate that common genetic variants of CRP (3'UTR 1846C/T) and IL-6 (-174G/C) are significantly associated with the risk of stroke after cardiac surgery, suggesting a pivotal role of inflammation in post-cardiac surgery stroke.											
140451	Y	coronary artery spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Murase, Y.  et al. 2004	15172469				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	CDC GDPinfo	3569	Hs.512234			European heart journal. 2004 Jun;25(11):970-7	Genetic risk and gene-environment interaction in coronary artery spasm in Japanese men and women.		147620	22595	2	2004	 The NADH/NADPH oxidase p22 phox gene is a susceptibility locus for coronary artery spasm in men, and the stromelysin-1 and interleukin-6 genes are susceptibility loci in women.	Control:1,595 controls (762 men, 833 women);Case:593 subjects with coronary artery spasm (453 men, 140:women)										
140452	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Hakansson, A.  et al. 2005	15635591				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):88-92	Interaction of polymorphisms in the genes encoding interleukin-6 and estrogen receptor beta on the susceptibility to Parkinson's disease.		147620	22596	2	2005	Our results indicate that the G-174C SNP in the IL-6 promoter may influence the risk for developing PD, particularly regarding early age of onset PD, and that the effect is modified by interaction of the G-1730A SNP in the ERbeta gene.	Case:258 patients with Parkinson's disease;Control:308:controls										
140453		longevity	AGING	AGE	Thrombosis|Inflammation	7	7p21	IL6	22733322	22738141		Reiner, A. P.  et al. 2005	15939070				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Atherosclerosis. 2005 Jul;181(1):175-83	Common promoter polymorphisms of inflammation and thrombosis genes and longevity in older adults: thecardiovascular health study.		147620	22597	2	2005												
140454		liver transplantation, immunosuppression after	IMMUNE	IMM	Substance Withdrawal Syndrome	7	7p21	IL6	22733322	22738141		Mazariegos, G. V.  et al. 2002	11981433				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2002 Apr;73(8):1342-5	Cytokine gene polymorphisms in children successfully withdrawn from immunosuppression after liver transplantation.		147620	22598	2	2002	 Children successfully maintained off immunosuppression are more likely to have a genetic predisposition toward low TNF-alpha and high/intermediate IL-10 production. Children maintained on minimal immunosuppression exhibit a similar cytokine profile to those successfully weaned.	Case:12/7 Pediatric liver transplant recipients who were successfully withdrawn from immunosuppression (n=12) or who are on minimal immunosuppression:(n=7);Control:37 liver recipients who required maintenance:immunosuppression										
140456		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Disease Progression	7	7p21	IL6	22733322	22738141		Grutters, J. C.  et al. 2003	12737276				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Dutch	Great Britain|Netherlands	CDC GDPinfo	3569	Hs.512234			Sarcoidosis, vasculitis, and diffuse lung diseases. 2003 Mar;20(1):20-7	Analysis of IL6 and IL1A gene polymorphisms in UK and Dutch patients with sarcoidosis.		147620	22600	2	2003	 Although the investigated polymorphisms are unlikely to contribute to sarcoidosis susceptibility, the IL6-174C allele might have a role in the genetics underlying sarcoidosis severity or the progression towards pulmonary fibrosis in a particular subgroup.	Control:101/166 UK (n=101) and Dutch (n=166) controls;Case:147/102 UK (n=147) and Dutch (n=102) sarcoidosis patients										
140457		inflammatory response, trauma induced	IMMUNE	IMM	Multiple Trauma|Genetic Predisposition to Disease|Inflammation|Systemic Inflammatory Response Syndrome	7	7p21	IL6	22733322	22738141			16317381				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Shock (Augusta, Ga). 2005 Dec;24(6):518-22	GENETIC PREDISPOSITION FOR A COMPROMISED IMMUNE SYSTEM AFTER MULTIPLE TRAUMA		147620	22601	2	2005												
140458		bone mass	METABOLIC	MET	Osteoporosis, Postmenopausal|Disease Susceptibility	7	7p21	IL6	22733322	22738141		Fontova, R.  et al. 2002	12240899				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Mediterranean Region	CDC GDPinfo	3569	Hs.512234			Journal of endocrinological investigation. 2002 Sep;25(8):684-90	Bone mineral mass is associated with interleukin 1 receptor autoantigen and TNF-alpha gene polymorphisms in post-menopausal Mediterranean women.		147620	22602	2	2002	We conclude that  both IL-1ra and TNF-alpha can be candidate loci to be studied in the susceptibility to develop post-menopausal osteoporosis.	Case:104 post-menopausal osteoporotic women (58.6+/-4.8 yr);Control:51 post-menopausal women without osteoporosis										
140459		dental implants	INFECTION	INF		7	7p21	IL6	22733322	22738141			16361891				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Implant dentistry. 2005 Dec;14(4):391-6	Interleukin-2 and Interleukin-6 Gene Promoter Polymorphisms, and Early Failure of Dental Implants		147620	22603	2	2005												
140461	Y	kidney transplant	IMMUNE	IMM	Chronic Disease	7	7p21	IL6	22733322	22738141		Pawlik, A.  et al. 2005	15814282				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplant immunology. 2005 Mar;14(1):49-52	The cytokine gene polymorphisms in patients with chronic kidney graft rejection.		147620	22605	2	2005	The results of present study suggest that the genetically determined low IL-6 production may be the risk factor of chronic allograft nephropathy development.	Case:62 patients with chronic allograft nephropathy;Control:64 patients with long-term stable gaft function										
140462		sepsis	INFECTION	INF	Sepsis	7	7p21	IL6	22733322	22738141		Ahrens, P.  et al. 2004	14739370				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Pediatric research. 2004 Apr;55(4):652-6	Mutations of Genes Involved in the Innate Immune System as Predictors of Sepsis in Very Low Birth Weight Infants		147620	25037	2	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants 										
140463		preterm delivery	REPRODUCTION	REP	Premature Birth	7	7p21	IL6	22733322	22738141		Hartel, C.  et al. 2004	15516360				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Molecular human reproduction. 2004 Dec;10(12):911-5	Polymorphisms of genes involved in innate immunity:association with preterm delivery		147620	25038	2	2004	The overall influence of the investigated polymorphisms on the development of preterm delivery seems moderate, since only the maternal IL6-174G genotype was associated with preterm birth and none of the polymorphisms were associated with intrauterine infection as the cause of preterm birth.	Control:491 term-born infants;Case:909 preterm very-low-birth-weight infants										
140465		bacterial infection	INFECTION	INF	Gram-Negative Bacterial Infections|Leukemia, Myeloid|Acute Disease	7	7p21	IL6	22733322	22738141		Lehrnbecher, T.  et al. 2005	16107886				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Leukemia. 2005 Oct;19(10):1745-50	Common genetic variants in the interleukin-6 and chitotriosidase genes are associated with the risk for serious infection in children undergoing therapy for acute myeloid leukemia.		147620	25040	2	2005												
140466		infertility, male	REPRODUCTION	REP	Osteoporosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Lei, S. F.  et al. 2003	12491092				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Chinese	China	CDC GDPinfo	3569	Hs.512234			Journal of bone and mineral metabolism. 2003 ;21(1):34-42	Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity.		147620	25041	2	2003	Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations.	Cohort 124 random individuals 										
140467		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p21	IL6	22733322	22738141			16395669				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		147620	25042	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
140468		carotid plaque	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Diabetes Mellitus, Type 2|Rupture	7	7p21	IL6	22733322	22738141		Giacconi, R.  et al. 2005	15992611				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Mechanisms of ageing and development. 2005 Aug;126(8):866-73	1267 HSP70-2 polymorphism as a risk factor for carotid plaque rupture and cerebral ischaemia in old type 2 diabetes-atherosclerotic patients.		147620	25043	2	2005												
140470		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	7	7p21	IL6	22733322	22738141		Ben-Ari, Z.  et al. 2003	12526950				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The American journal of gastroenterology. 2003 Jan;98(1):144-50	Cytokine gene polymorphisms in patients infected with hepatitis B virus.		147620	25045	2	2003	 These findings suggest an association between the genetic ability to produce low levels of IFN-gamma and the susceptibility to develop chronic HBV infection.	Control:10/48 healthy individuals who recovered from HBV infection (n=10) and healthy controls (n=48);Case:77 patients with chronic HBV infection (23 low-level HBV replicative carriers, 23 compensated high-level HBV replicative carriers, 21 decompensated liver transplant candidates, and 10 patients with documented hepatocellular carcinoma)										
140471		longevity	AGING	AGE		7	7p21	IL6	22733322	22738141		Pes, G. M.  et al. 2004	15462469				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Aging clinical and experimental research. 2004 Jun;16(3):244-8	Association between longevity and cytokine gene polymorphisms. A study in Sardinian centenarians.		147620	25046	2	2004	 These data indicate that gene polymorphisms of cytokines playing a major regulatory role in the inflammatory response do not affect life expectancy in the Sardinian population. Thus, cytokine/longevity associations have a population-specific component, being affected by the population-specific gene pool as well as by gene-environment interactions, behaving as survival rather than longevity genes.	Case:112:centenarians:Sardinia;Control:137 sixty-year-old controls from the same geographic:region										
140472		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	7	7p21	IL6	22733322	22738141		Socie, G.  et al. 2001	11544434				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2001 Aug;72(4):699-706	Both genetic and clinical factors predict the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation		147620	25047	2	2001	 In addition to previously described clinical risk factors, genetic risk factors are independently associated with the risk of developing graft-versus-host disease and may, thus, be considered for the selection of the donor.	Cohort 100 consecutive patients who underwent allogeneic stem cell transplantation from an HLA-identical sibling donor 										
140473		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Gottenberg, J. E.  et al. 2004	14872501				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Arthritis and rheumatism. 2004 Feb;50(2):570-80	Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome		147620	25048	2	2004	 TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGFbeta1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.	Case:129 French Sjogren's syndrome patients;Control:96 unrelated healthy subjects										
140474		heart transplant complications	OTHER	OTH	Infection	7	7p21	IL6	22733322	22738141		Gourley, I. S.  et al. 2004	15041164				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2004 Mar;65(3):248-54	The effect of recipient cytokine gene polymorphism on cardiac transplantation outcome		147620	25049	2	2004	Patients with the TGF-beta genotype 10 T/T 25 G/G or 10 T/C 25 G/G had a longer time to first rejection (median time to first rejection episode 321 days) than those with the TGF-beta genotype 10C/C 25 G/C or 10 C/C 25 C/C (median time to first rejection 88 days). There was a trend toward a higher frequency of the tumor necrosis factor-alpha genotype -308 G/A or A/A in patients without infection (19/59, 32%) as compared with patients with infection (5/31, 16%). In both cases, these differences failed to reach significance when adjusted for multiple comparisons. No other significant association was found with clinical outcomes and polymorphisms in the five cytokine genes studied in this population.	Cohort 95 heart transplant paitnets 										
140475	Y	graft versus host disease	IMMUNE	IMM	Graft vs Host Disease	7	7p21	IL6	22733322	22738141	<0.001	Laguila Visentainer, J. E.  et al. 2005	16243534			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Mixed Brazilian population	Brazil	CDC GDPinfo	3569	Hs.512234		IL6-174CC	Cytokine. 2005 Nov;32(4-Mar):171-7	Relationship between cytokine gene polymorphisms and graft-versus-host disease after allogeneic stem cell transplantation in a Brazilian population.		147620	25050	2	2005	There is an assocition between IL6-174CC genotype and chronic GVHD											
140476		kidney graft survival	RENAL	REN		7	7p21	IL6	22733322	22738141		Neumann, J.  et al. 2001	11266927				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):501	Cytokine polymorphism and kidney graft survival at a single center.		147620	25051	2	2001	Our findings suggest that more patients should be studied and, if our results are confirmed, we should be able to tailor immunosuppression according to each patient's risk.	Cohort 35 kidney graft receptors 1992-1999 										
140477		graft-vs-host disease	IMMUNE	IMM	Graft vs Host Disease	7	7p21	IL6	22733322	22738141		Tambur, A. R.  et al. 2001	11266928				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):502-3	Cytokine gene polymorphism in patients with graft-versus-host disease.		147620	25052	2	2001	In view of these data, and other recent reports in the literature, the role of TGF-beta in manipulating immune response should be reassessed.	Case:24 bone marrow transplant recipients:1996-1999;Control:43 healthy controls										
140479		allograft outcome	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Awad, M. R.  et al. 2001	11404167				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The Journal of heart and lung transplantation. 2001 Jun;20(6):625-30	The effect of cytokine gene polymorphisms on pediatric heart allograft outcome.		147620	25054	2	2001	 Genetic polymorphisms that have been associated with low TNF-alpha and high IL-10 production are associated with a lower number of acute rejection episodes after pediatric heart transplantation.	Control:29 heart donors;Case:93 pediatric heart transplant recipients										
140480		cell-surface B7 expression; cytokine production	UNKNOWN	UNK		7	7p21	IL6	22733322	22738141		Hutchings, A.  et al. 2002	11906646				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American		CDC GDPinfo	3569	Hs.512234			Pediatric transplantation. 2002 Feb;6(1):69-77	Association of cytokine single nucleotide polymorphisms with B7 costimulatory molecules in kidney allograft recipients.		147620	25055	2	2002	These data raise the possibility that specific genotypes are associated with local cytokine regulation of cell-surface costimulatory molecule expression. African-American patients may have a genetically determined, quantitatively different immune response than Caucasian patients, contributing to adverse transplant outcomes.	Cohort African-American and Caucasian renal transplant recipients 										
140481		multiple sclerosis	IMMUNE	IMM	Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Gourley, I. S.  et al. 2002	12232842				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Kenya	CDC GDPinfo	3569	Hs.512234			The Journal of infectious diseases. 2002 Oct;186(7):1007-12	Profound bias in interferon-gamma and interleukin-6 allele frequencies in western Kenya, where severe malarial anemia is common in children.		147620	25056	2	2002	The cohort displayed a marked bias toward genotypes associated with low expression of IFN-gamma and IL-6, cytokines that, at high levels, have been implicated in malarial anemia and poor malaria outcomes. By contrast, the frequency of the TNF-alpha -238A allele, which has been associated with severe malarial anemia, was found to be similar to the frequency previously reported in comparison populations in Africa and elsewhere. IFN-gamma and IL-6 genotypes may play roles in the development of severe malaria and could contribute to the relative frequency of severe malarial anemia or cerebral malaria in exposed populations.	Cohort young men Western Kenya 										
140482	Y	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans	7	7p21	IL6	22733322	22738141		Lu, K. C.  et al. 2002	12451269				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2002 Nov;74(9):1297-302	Interleukin-6 and interferon-gamma gene polymorphisms in the development of bronchiolitis obliterans syndrome after lung transplantation.		147620	25057	2	2002	 The presence of high-expression polymorphisms at position -174 of the IL-6 gene and position +874 of the IFN-gamma gene significantly increases the risk for BOS development after lung transplantation.	Cohort 93 lung allograft recipients 										
140483		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	7	7p21	IL6	22733322	22738141		Gentile, D. A.  et al. 2003	12507818				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2003 Jan;64(1):93-8	Cytokine gene polymorphisms moderate responses to respiratory syncytial virus in adults.		147620	25058	2	2003	These results suggest that certain cytokine gene polymorphisms moderate immune responses and illness severity in adults experimentally exposed to RSV.	Cohort 29 adults experimentally inoculated with respiratory syncytial virus 										
140484		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Otitis Media	7	7p21	IL6	22733322	22738141		Gentile, D. A.  et al. 2003	12590978				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2003 Mar;64(3):338-44	Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.		147620	25059	2	2003	These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.	Cohort 77 infants hospitalized with confirmed RSV infection 										
140485		hepatitis C	INFECTION	INF	Hepatitis C	7	7p21	IL6	22733322	22738141		Barrett, S.  et al. 2003	12938195				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection		147620	25060	2	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive)) 										
140486		parvovirus	INFECTION	INF	Parvoviridae Infections	7	7p21	IL6	22733322	22738141		Kerr, J. R.  et al. 2003	14514772				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		147620	25061	2	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
140487		kidney transplant complications	IMMUNE	IMM	Acute Disease	7	7p21	IL6	22733322	22738141		Gu, X. W.  et al. 2003	14625191				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Di yi jun yi da xue xue bao. 2003 Nov;23(11):1211-3	Cytokine gene polymorphism in sensitized kidney transplant recipients and its association with acute rejection episodes		147620	25062	2	2003	 TNF-alpha and IL-10 gene polymorphism may significantly influence the incidence of acute rejection episodes in sensitized kidney transplants, for whom determination of TNF-alpha and IL-10 genotype might help design feasible immunosuppressive protocols.	Cohort 97 sensitized kidney transplant recipients 										
140488		heart failure	CARDIOVASCULAR	CARD	Shock, Cardiogenic|Critical Illness	7	7p21	IL6	22733322	22738141		Appoloni, O.  et al. 2004	15189946				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Chest. 2004 Jun;125(6):2232-7	Association between the TNF-2 allele and a better survival in cardiogenic shock.		147620	25063	2	2004	 Patients with the TNF-2 allele have no greater risk of cardiogenic shock but a better survival rate when it develops. Different genetic factors appear to influence the risk of development of, and outcome from, cardiogenic shock.	Case:33 adult patients with cardiogenic shock of recent (< 4 h) onset;Control:48 healthy control subjects										
140490		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Recurrence	7	7p21	IL6	22733322	22738141		Ben-Ari, Z.  et al. 2004	15207246				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Cytokine. 2004 Jul;27(1):14-Jul	Role of cytokine gene polymorphism and hepatic transforming growth factor beta1 expression in recurrent hepatitis C after liver transplantation		147620	25065	2	2004	These findings might help to design preemptive prevention therapy in selected patients at risk.	Cohort 36 chronic hepatitis C patients 										
140491		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	7	7p21	IL6	22733322	22738141		Prigoshin, N.  et al. 2004	15214940				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Caucasian		CDC GDPinfo	3569	Hs.512234			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):36-41	Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause.		147620	25066	2	2004	 This finding would support the concept of involvement of IFN-gamma +874 A --> T in the pathogenesis of RPL of unknown cause in the Caucasian Argentine population.	Case:41 women with reccurent pregnancy loss;Control:54 control women who had at least two children and without known pregnancy losses										
140492		kidney transplant	IMMUNE	IMM	Acute Disease	7	7p21	IL6	22733322	22738141		Alakulppi, N. S.  et al. 2004	15599305				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2004 Nov;78(10):1422-8	Cytokine gene polymorphisms and risks of acute rejection and delayed graft function after kidney transplantation.		147620	25067	2	2004	 Our results confirm that cytokine gene polymorphisms influence the outcome of kidney transplantation. Our data especially identify the TNF-alpha -308AA-genotype as a factor predisposing for AR episodes.	Cohort 291 conors and adult cadaver kidney recipients transplanted at a single transplantation center 1999 - 2002 										
140493		renal allograft outcome	UNKNOWN	UNK		7	7p21	IL6	22733322	22738141		Delaney, N. L.  et al. 2004	15603866				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American		CDC GDPinfo	3569	Hs.512234			Human immunology. 2004 Dec;65(12):1413-9	TNF-alpha, TGF-beta, IL-10, IL-6, and INF-gamma alleles among African Americans and Cuban Americans. Report of the ASHI Minority Workshops:Part IV.		147620	25068	2	2004	Because levels of expression can affect inflammation and immune regulation, differences in cytokine allele frequencies between racial or ethnic groups may contribute to different incidences of autoimmunity and allograft rejection.	Cohort 691/296 unrelated adult African Americans (n=691) and Cuban Americans (n=296) 										
140494	N	liver transplant	OTHER	OTH		7	7p21	IL6	22733322	22738141		Karasu, Z.  et al. 2004	15621151				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2004 Nov;36(9):2791-5	Cytokine gene polymorphism and early graft rejection in liver transplant recipients.		147620	25069	2	2004	In conclusion, there was no significant correlation between early graft rejection and cytokine gene polymorphism of TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-gamma in liver transplant recipients.	Cohort 43 Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group. 										
140495	N	liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	7	7p21	IL6	22733322	22738141		Migita, K.  et al. 2005	15763337				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Japanese	Japan	CDC GDPinfo	3569	Hs.512234			Journal of hepatology. 2005 Apr;42(4):505-10	Cytokine gene polymorphisms in Japanese patients with hepatitis B virus infection--association between TGF-beta1 polymorphisms and hepatocellular carcinoma.		147620	25070	2	2005	 Our findings suggest that the genetic polymorphism in codon 10 of the TGF-beta1 gene may play a role in HCC development in patients with chronic HBV infection.	Cohort 236 Japanese patients with hepatitis B virus 	hepatitis B									
140496		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	7	7p21	IL6	22733322	22738141		Basturk, B.  et al. 2005	15784411				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Cytokine. 2005 Apr;30(1):41-5	Cytokine gene polymorphisms as potential risk and protective factors in renal cell carcinoma.		147620	25071	2	2005	Nevertheless, these findings suggest that the TNF-alpha -308 G/G and TGF-beta codon 10-25 T/T-G/C genotypes may be potential risk factors for RCC, whereas TNF-alpha -308 G/A, IL-6 C/C and TGF-beta1 codon 10-25 C/C-G/G genotypes may be possible protective factors. The number of the cases has to be increased to investigate the independency of these polymorphisms involved in the oncogenesis of RCC.	Case:29 patient with renal cell carcinoma;Control:50 healthy controls										
140497		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Bendicho, M. T.  et al. 2005	15841043				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Pancreas. 2005 May;30(4):333-6	Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis.		147620	25072	2	2005	 The genotypes corresponding to the high TGF-beta1 producer phenotypes can be associated with the fibrogenesis shown with CP.	Case:28 chronic pancreatitis patients evaluated at a university gastroenterology outpatient service;Control:94 blood donors										
140499		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Mihailova, S.  et al. 2005	16183136				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Bulgaria	CDC GDPinfo	3569	Hs.512234			Journal of neuroimmunology. 2005 Nov;168(2-Jan):138-43	Pro- and anti-inflammatory cytokine gene polymorphism profiles in Bulgarian multiple sclerosis patients.		147620	25074	2	2005												
140500		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Embryo Loss	7	7p21	IL6	22733322	22738141		Costeas, P. A.  et al. 2004	14969768				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2004 Feb;65(2):135-41	Th2/Th3 cytokine genotypes are associated with pregnancy loss		147620	25075	2	2004	Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.	Case abortion-prone female patients;Control women with successful pregnancies										
140501		allergic rhinitis	IMMUNE	IMM	Asthma|Rhinitis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Gentile, D. A.  et al. 2004	15120189				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2004 Apr;65(4):347-51	Association between TNF-alpha and TGF-beta genotypes in infants and parental history of allergic rhinitis and asthma.		147620	25076	2	2004	These results suggest a role for TNF-alpha and TGF-beta1 genotypes in the pathogenesis of allergic rhinitis and asthma, respectively. If confirmed by future studies, cytokine genotyping may be a useful tool for identifying at-risk infants who may benefit from the selective use of preventative and/or early intervention treatments for these disorders.	Cohort 124 infants 										
140502		lung transplant complications	OTHER	OTH	Acute Disease	7	7p21	IL6	22733322	22738141		Zheng, H. X.  et al. 2004	15135368				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The Journal of heart and lung transplantation. 2004 May;23(5):541-6	Interleukin-10 production genotype protects against acute persistent rejection after lung transplantation.		147620	25077	2	2004	 In lung transplant recipients, the increased IL-10 production genotype protects against acute persistent rejection when compared with the intermediate or decreased IL-10 production genotypes. The intermediate IL-10 production genotype in lung transplant recipients can be differentiated into 2 haplotype responses, with the GCC/ACC haplotype associated more with acute persistent rejection. In lung transplant recipients, the immunomodulatory effects of IL-6 are differentiated in the G/C and G/G alleles in conjunction with IL-10 haplotypes, with G/C being associated with more acute persistent rejection in conjunction with the IL-10 GCC/ACC haplotype. Future pharmacogenomic models may incorporate these associations with acute persistent rejection in lung transplant recipients to formulate individualized therapeutic regimens.	Cohort 119 adult lung tranplantation recipients who underwent surveillance transbronchial biopsies during their first year after transplantation 										
140503		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Pain|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Oen, K.  et al. 2005	15901906				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Rheumatology (Oxford, England). 2005 Sep;44(9):1115-21	Cytokine genotypes correlate with pain and radiologically defined joint damage in patients with juvenile rheumatoid arthritis.		147620	25078	2	2005	 The correlation of IL-6 genotype with pain and the possible association of the TGF-beta1 codon 25 genotype with short-term radiographic damage (G/C with greater risk and G/G with decreased risk) suggests that both these polymorphisms may be useful early prognostic indicators. Further studies of the relation between cytokine genotypes and outcomes in patients with all forms of juvenile idiopathic arthritis (JIA) are warranted.	Cohort patients with juvenile rheumatoid arthritis who previously participated in a long-term outcome study 										
140504		leukemia, acute myeloid; longevity; myelodysplasia	CANCER	CAN		7	7p21	IL6	22733322	22738141		Poli, F.  et al. 2002	12047360				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Italian		CDC GDPinfo	3569	Hs.512234			European journal of immunogenetics. 2002 Jun;29(3):237-40	Allele frequencies of polymorphisms of TNFA, IL-6, IL-10 and IFNG in an Italian Caucasian population.		147620	25079	2	2002	The analysis carried out by our group indicates that there is heterogeneity in the frequencies of the cytokine polymorphisms among the different Caucasian populations, and this underlines the importance of a 'local' reference population when evaluating the clinical relevance of cytokine gene polymorphisms.	Cohort 363 healthy Italian Caucasians 										
140505		diabetes, type 1	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Siekiera, U.  et al. 2002	12818128				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego. 2002 ;8(1):29-34	[Polymorphism of TNF-alpha (308 A/G), IL-10 (1082 A/G, 819 C/T 592 A/C), IL-6 (174 G/C), and IFN-gamma (874 A/T); genetically conditioned cytokine synthesis level in children with diabetes type 1]		147620	25080	2	2002	 It is possible to us molecular method to estimate the genetically controlled immune reactivity. It is a very important immunogenetic factor of the disease predisposition.	Case:36 children with type 1 diabetes;Control:36 healthy individuals										
140506	N	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	0.347	Barber, R. C.  et al. 2004	15520404			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of medical genetics. 2004 Nov;41(11):808-13	TLR4 and TNF-alpha polymorphisms are associated with an increased risk for severe sepsis following burn injury.	rs13447446	147620	25081	2	2004	 The TLR4 +896 and TNF-alpha -308 polymorphisms were significantly associated with an increased risk for severe sepsis following burn trauma.	Cohort 159 patients with burns >/=20% of their total body surface area or any smoke inhalation injury without significant non-burn related trauma or spinal cord injury, and survived >48 h post-admission 										
140507	Y	appendicitis	INFECTION	INF	Appendicitis|Acute Disease	7	7p21	IL6	22733322	22738141		Rivera-Chavez, F. A.  et al. 2004	15273551				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Annals of surgery. 2004 Aug;240(2):269-77	Innate immunity genes influence the severity of acute appendicitis.		147620	25082	2	2004	 Polymorphism in the IL-6 gene was associated with the severity of appendicitis, even after adjustment for duration of symptoms. The risk for developing appendiceal perforation or gangrene may be determined, in part, by variation in the IL-6 gene.	Cohort 134 patients with acute appendicitis treated at an urban hospital 										
140508		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Howell, W. M.  et al. 2005	15917409				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of clinical pathology. 2005 Jun;58(6):595-9	Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.		147620	25083	2	2005	 This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.	Control:266 healthy controls;Case:53 patients with chronic pancreatitis										
140509		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Smith, K. C.  et al. 2004	15265021				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		147620	25084	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
140510		sepsis	INFECTION	INF	Systemic Inflammatory Response Syndrome	7	7p21	IL6	22733322	22738141		Freeman, B. D.  et al. 2002	12411588				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The Journal of molecular diagnostics. 2002 Nov;4(4):209-15	Template-directed dye-terminator incorporation with fluorescence polarization detection for analysis of single nucleotide polymorphisms implicated in sepsis.		147620	25085	2	2002	This method has potential advantages compared with other high throughput genotyping techniques and appears well suited to clinical situations requiring analysis of large numbers of samples.											
140511		asthma; lipids; C-reactive protein; obesity; glucose; leptin; atopy	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Bown, M. J.  et al. 2005	15787640				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			International journal of immunogenetics. 2005 Apr;32(2):83-90	A comparison of methods for determining genotypes at the tumour necrosis factor-alpha-308, interleukin (IL)-1beta+3953, IL-6 -174 and IL-10 -1082/-819/-592 polymorphic loci.		147620	25086	2	2005	IHG is a valid method for the determination of genotypes at the loci examined in this study and produces comparable results to those of more traditional methods of genotyping.	Cohort 90 patients consenting to participate in the study 										
140512		periodontal disease	IMMUNE	IMM	Periodontitis|Inflammation	7	7p21	IL6	22733322	22738141		D'Aiuto, F.  et al. 2004	15341923				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Cytokine. 2004 Oct;28(1):29-34	Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections		147620	25087	2	2004	These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.	Cohort 94 subjects with periodontitis 										
140514		kidney transplant complications	IMMUNE	IMM	Cadaver	7	7p21	IL6	22733322	22738141		Loucaidou, M.  et al. 2005	15919456				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2005 May;37(4):1760-1	Cytokine polymorphisms do not influence acute rejection in renal transplantation under tacrolimus-based immunosuppression.		147620	25089	2	2005	 Cytokine polymorphisms did not influence acute rejection in our study. We conclude that in the modern era of immunosuppression cytokine genotyping is not a significant predictor of acute rejection in renal transplantation.											
140515		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Hematuria|Proteinuria|Hypertension|Disease Progression	7	7p21	IL6	22733322	22738141		Syrjanen, J.  et al. 2002	11849463				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Kidney international. 2002 Mar;61(3):1079-85	Polymorphism of the cytokine genes and IgA nephropathy.		147620	25090	2	2002	 Carriage of IL1beta2 and IL1RN*2 together with non-carriage of TNF2 is associated with increased susceptibility, but not with a prognosis of IgAN.	Case:167 patients with IgA nephropathy;Control:400 healthy blood donor controls										
140516		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Thomson, W.  et al. 2002	12223104				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Arthritis research. 2002 ;4(5):302-6	Genetic epidemiology: Juvenile idiopathic arthritisgenetics - What's new? What's next?		147620	25091	2	2002	Review article											
140517		kidney failure	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Cox, E. D.  et al. 2001	11544437				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2001 Aug;72(4):720-6	Cytokine polymorphic analyses indicate ethnic differences in the allelic distribution of interleukin-2 and interleukin-6.		147620	25092	2	2001	 Our work demonstrates a correlation between ethnicity and polymorphisms in several cytokine genes. In addition, we found that patients requiring renal transplantation differ from the general population with regard to certain cytokine gene polymorphisms. These findings may have relevance in making prognostic determinations or tailoring immunomodulatory regimens after renal transplantation.	Cohort 160 subjects including 102 whites and 43 African-Americans 										
140519		kidney disease; vascular disease	RENAL	REN	Renal Artery Obstruction|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		George, S.  et al. 2004	15104679				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Tissue antigens. 2004 May;63(5):470-5	Renovascular disease is associated with low producer genotypes of the anti-inflammatory cytokine interleukin-10		147620	25094	2	2004	The increased frequency of the low producer IL-10 promoter, -1082 A-positive genotype in patients with renal artery stenosis, suggests that IL-10 may protect against the development of atherosclerotic renovascular disease.	Control:100 normal healthy individuals;Case:66 patients with atherosclerotic renal artery stenosis										
140520		bone density	METABOLIC	MET	Osteoporosis|Body Weight	7	7p21	IL6	22733322	22738141		Lei, S. F.  et al. 2005	15917161				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Chinese		CDC GDPinfo	3569	Hs.512234			Maturitas. 2005 Jun;51(2):199-206	Bone mineral density and five prominent candidate genes in Chinese men: associations, interactioneffects and their implications.		147620	26301	2	2005	The results suggest that the AHSG gene is associated with the spine BMD in Chinese men. The present study represents the first effort to simultaneously investigate the effects of single gene locus as well as gene-by-gene interactions of multiple genes on BMD variation in Chinese men.	Cohort 258 unrelated healthy Chinese men aged 50-80 years 										
140521		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7p21	IL6	22733322	22738141		Flex, A.  et al. 2004	15308783				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		147620	26302	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
140522		kidney transplant	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Lacha, J.  et al. 2005	15848524				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2005 Mar;37(2):764-6	Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence ofdonor-recipient match.		147620	26303	2	2005	Our data support the hypothesis that the strength of the alloimmune response after transplantation is in part genetically determined. Donor-recipient matching of cytokine gene polymorphisms has a marginal effect.	Cohort 268 healthy volunteers Cohort 345/298 kidney transplant recipients (n=345) and cadaveric donors (n=298) 										
140523		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency|Wounds and Injuries	7	7p21	IL6	22733322	22738141		Upperman, J. S.  et al. 2005	15718915				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American		CDC GDPinfo	3569	Hs.512234			Shock (Augusta, Ga). 2005 Mar;23(3):197-201	Dominance of high-producing interleukin 6 and low-producing interleukin 10 and interferon gamma alleles in glucose-6-phosphate dehydrogenase-deficient trauma patients.		147620	26304	2	2005	These investigations indicate a predominant presence of high-producing IL-6 alleles together with low-producing IL-10 and IFN-gamma alleles in individuals with ancestry from malaria-endemic regions. The frequency of low-producing IL-10 genotypes is greater in the G6PD-deficient compared with nondeficient patients. The fact that these genetic differences are preserved in the current African American G6PD-deficient population indicates their potential role in pathophysiological processes in the absence of the selective pressure caused by tropical diseases.	Cohort 111 men with African American ancestry 										
140524		HTLV-1 infection	INFECTION	INF	HTLV-I Infections	7	7p21	IL6	22733322	22738141		Nishimura, M.  et al. 2003	12651071				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2003 Apr;64(4):453-7	Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers.		147620	26305	2	2003	These data suggest that inflammation or an active immune response may induce an increased amount of HTLV-I-infected T cells, leading to a high provirus load.	Cohort 143 HTLV-I carriers 										
140525	Y	bone loss	METABOLIC	MET	Osteoporosis|Bone Resorption|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	7	7p21	IL6	22733322	22738141		Schulte, C. M.  et al. 2000	11040178				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Gastroenterology. 2000 Oct;119(4):909-20	Genetic factors determine extent of bone loss in inflammatory bowel disease.		147620	26306	2	2000	 Genetic variations in the IL-6 and IL-1ra gene identify IBD patients at risk for increased bone loss.	Case:83 inflamatory bowel disease patients;Control:86 healthy bone marrow donors										
140526		schizophrenia	PSYCH	PSY	Schizophrenia	7	7p21	IL6	22733322	22738141		Zanardini, R.  et al. 2003	14563376				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of psychiatric research. 2003 Nov-Dec;37(6):457-62	Association between IL-1beta -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia.		147620	26307	2	2003	Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.	Case:169 northern Italian schizophrenic patients northern Italy;Control:177 unrelated healthy volunteers										
140527		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	7	7p21	IL6	22733322	22738141		Shields, D. C.  et al. 2002	12082590				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		147620	26308	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
140529	Y	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	7	7p21	IL6	22733322	22738141		Fan, L. Y.  et al. 2004	15562761				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Chinese		CDC GDPinfo	3569	Hs.512234			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Oct;26(5):505-9	[Genetic association between interleukins gene polymorphisms with primary biliary cirrhosis in Chinese population]		147620	26310	2	2004	 The polymorphisms of IL-1RN and IL-6 -174G/C appear to be associated with PBC, and the polymorphisms of IL-1 +3953 and IL-10 promoter gene are not associated with PBC in a Chinese population.	Control:160 healthy controls;Case:77 patients with primary biliary cirrhosis										
140530		kidney transplant complications	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		McDaniel, D. O.  et al. 2003	12727482				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American		CDC GDPinfo	3569	Hs.512234			Transplant immunology. 2003 Jan-Mar;11(1):107-19	Combined analysis of cytokine genotype polymorphism and the level of expression with allograft function in African-American renal transplant patients		147620	26311	2	2003	We concluded that, dual analysis of cytokine genotype and expression levels by peripheral cells may be an important clue to understanding the contribution of the recipient's immune response to an allograft pre- and post-transplantation. Identification of peripheral markers diagnostic of rejection could allow advance anticipation of clinical outcome, and might reduce the need for tissue biopsy.	Case:77 renal transplant recipients;Control:77:controls										
140532	N	renal transplantation, protein secretion in	UNKNOWN	UNK	Acute Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Cartwright, N. H.  et al. 2001	11316066				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplant immunology. 2001 Feb;8(4):237-44	A study of cytokine gene polymorphisms and protein secretion in renal transplantation.		147620	26313	2	2001	In addition, no correlation was demonstrated between cytokine gene polymorphisms and renal allograft rejection.	Control:30 normal controls;Case:49 renal transplant patient-donor pairs										
140533		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Wu, S. F.  et al. 2005	15900570				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Taiwan	CDC GDPinfo	3569	Hs.512234			Journal of clinical laboratory analysis. 2005 ;19(3):99-102	Association of IL-1Ra gene polymorphism, but no association of IL-1beta and IL-4 gene polymorphisms, with Kawasaki disease.		147620	26314	2	2005	The genotype I/II for IL1-Ra and the frequency of allele II for IL1-Ra are associated with a higher susceptibility to KD, and thus may be useful markers for predicting the development of KD.	Control:103 normal controls;Case:107 Kawasaki disease patients										
140534		asthma; eczema; allergic disease	IMMUNE	IMM	Parasitic Diseases|Autoimmune Diseases	7	7p21	IL6	22733322	22738141		Kurzawski, M.  et al. 2005	16164695				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Polish	Poland	CDC GDPinfo	3569	Hs.512234			International journal of immunogenetics. 2005 Oct;32(5):285-91	Frequencies of the common promoter polymorphisms in cytokine genes in a Polish population.		147620	26315	2	2005												
140535		kidney transplant	IMMUNE	IMM	Kidney Neoplasms	7	7p21	IL6	22733322	22738141		Ligeiro, D.  et al. 2004	15194285				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation proceedings. 2004 May;36(4):827-9	Impact of donor and recipient cytokine genotypes on renal allograft outcome.		147620	26316	2	2004	A statistical analysis showed a significant prevalence of recipient IL-10 -819/-592 genotype among CR individuals; whereas among donors, the TGF-beta codon 10 CT genotype was significantly associated with the AR cohort and the IL-6 -174 CC genotype with CR. Other albeit not significant observations included a strong predisposition of recipient TGF-beta codon 10 CT genotype with CR, and TNF-beta 252 AA with AR. A low frequency of TNF-alpha -308 AA genotype also was observed among recipients and donors who showed poor allograft outcomes.	Cohort 35/31/31 kidney transplant recipients with a 5 year 										
140536		renal allograft outcome	UNKNOWN	UNK	Acute Disease	7	7p21	IL6	22733322	22738141		Hahn, A. B.  et al. 2001	11544427				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2001 Aug;72(4):660-5	TNF-alpha, IL-6, IFN-gamma, and IL-10 gene expression polymorphisms and the IL-4 receptor alpha-chain variant Q576R: effects on renalallograft outcome		147620	26317	2	2001	 These data would suggest that the production of high levels of the cytokine TNF-alpha is especially detrimental to graft survival when the recipient's T-helper lymphocytes are being activated by mismatched donor HLA-class II antigens. Typing all potential kidney recipients for TNF-alpha, and providing well-matched organs for high producers of this cytokines, may be expected to increase rejection-free graft survival in these patients.	Cohort 120 transplant patients 										
140537		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Combarros, O.  et al. 2005	15854776				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Neuroscience letters. 2005 May;380(2-Jan):193-6	CD14 receptor polymorphism and Alzheimer's disease risk.		147620	27047	2	2005	The current study does not demonstrate an association between CD14 (-260) polymorphism and AD, neither through an independent effect nor through interaction with APOE varepsilon4 allele or interleukin (IL)-1A, IL-6, IL-8, tumor necrosis factor (TNF)-alpha, and intercellular adhesion molecule-1 polymorphisms.	Case:310 sporadic Alzheimer's disease cases;Control:310 control subjects										
140538		subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage	7	7p21	IL6	22733322	22738141		Ruigrok, Y. M.  et al. 2005	15726267				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of neurology. 2005 Apr;252(4):417-22	Genes and outcome after aneurysmal subarachnoid haemorrhage.		147620	27048	2	2005	Variation in some genes that are expressed after cerebral ischaemia may partly explain the large differences in outcome between patients with aneurysmal SAH. SAH patients homozygote for the IGF-1 wild type allele or carriers of the TNF-A non-wild type allele have a higher risk of poor outcome. Additional studies in other populations are needed to assess the generalisability of our results.	Cohort 167 patients with aneurysmal subarachnoid hemorrhage 										
140539	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Bushley, A. W.  et al. 2004	15581980				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Gynecologic oncology. 2004 Dec;95(3):672-9	Polymorphisms of interleukin (IL)-1alpha, IL-1beta, IL-6, IL-10, and IL-18 and the risk of ovarian cancer.		147620	27049	2	2004	 Overall, this study does not support an association of selected IL-1alpha, IL-1beta, IL-6, IL-10, or IL-18 polymorphisms with the risk for ovarian cancer. However, the IL-18 G137C variant may be a marker for ovarian cancer progression or metastasis.	Case:182 epithelial ovarian cancer cases;Control:219:controls										
140540		longevity	AGING	AGE		7	7p21	IL6	22733322	22738141		Ross, O. A.  et al. 2003	12633940				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Irish		CDC GDPinfo	3569	Hs.512234			Mechanisms of ageing and development. 2003 Feb;124(2):199-206	Study of age-association with cytokine gene polymorphisms in an aged Irish population.		147620	27050	2	2003	These findings would suggest that polymorphism of cytokine genes may not play as crucial a role in healthy ageing as previously believed.	Cohort healthy aged Irish population 										
140541	Y	atopy	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	7	7p21	IL6	22733322	22738141		Nieters, A.  et al. 2004	15005726				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Clinical and experimental allergy. 2004 Mar;34(3):346-53	Association of polymorphisms in Th1, Th2 cytokine genes with hayfever and atopy in a subsample of EPIC-Heidelberg.		147620	27051	2	2004	 Our data suggest an association of genetic variants in IL-6 and IL-2 with hayfever, confirm a role of polymorphisms in IL-4R, IL-13, and IL-18 for the elevated IgE phenotype, and add IL-6 to the list of candidate genes.	Case:322 subjects with hayfever from the European Prospective Investigation into Cancer and:Nutrition-Heidelberg;Control:322 age- and sex-matched controls										
140542		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Festa, F.  et al. 2005	15914210				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		147620	27512	2	2005												
140544		allograft rejection, heart	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Vamvakopoulos, J. E.  et al. 2002	12095061				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			American journal of transplantation. 2002 Jan;2(1):76-83	Interleukin 1 and chronic rejection: possiblegenetic links in human heart allografts.		147620	27514	2	2002	This case-control study indicates that gene polymorphisms which influence IL1 bioactivity also influence the progression of chronic rejection in heart grafts.	Control:83 recipients who had a functioning graft for more than 11 years;Case:96 recipients of thoracic organ transplants (128 heart; 36 heart-lung; and 15 lung) who had either died or been re-transplanted as a result of chronic:rejection										
140545		kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Acute Disease|Chronic Disease	7	7p21	IL6	22733322	22738141		Hoffmann, S.  et al. 2004	15458467				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Kidney international. 2004 Oct;66(4):1686-93	Donor genomics influence graft events: the effectof donor polymorphisms on acute rejection and chronic allograft nephropathy.		147620	27515	2	2004	 These data suggest that many of the donor polymorphisms studied in this analysis may influence a recipient's immune response to a renal allograft. However, their greatest impact may be demonstrated in long-term outcomes.	Cohort 244 renal allograft donors 										
140546		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Howell, W. M.  et al. 2003	14675394				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			European journal of immunogenetics. 2003 Dec;30(6):409-14	Cytokine gene single nucleotide polymorphisms and susceptibility to and prognosis in cutaneous malignant melanoma.		147620	27516	2	2003	These findings suggest that - with the possible exception of IL-1beta- genetic variation associated with differential expression of the selected pro- and anti-inflammatory cytokines is unlikely to play a major role in susceptibility to and prognosis in CMM.	Case:169 British Caucasian cutaneous malignant melanoma:patients;Control:261:controls										
140547		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Pereira, N. F.  et al. 2004	15566952				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		147620	27517	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
140548		allergies; common cold	IMMUNE	IMM	Common Cold|Hypersensitivity	7	7p21	IL6	22733322	22738141		Nieters, A.  et al. 2001	11354638				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	German	Germany	CDC GDPinfo	3569	Hs.512234			Human genetics. 2001 Mar;108(3):241-8	Cross-sectional study on cytokine polymorphisms, cytokine production after T-cell stimulation and clinical parameters in a random sample of a German population.		147620	27518	2	2001	Among the correlations with the clinical parameters, we observed an increased risk of allergies,particularly hay fever in individuals homozygous for IFNG 13 CA-repeats. As these are results of an explorative investigation, these findings require confirmation in material from a different source. If confirmed, these relationships could contribute to a better characterisation of the genetic component of allergies.	Cohort a randome sample of a German population Germany 										
140549	N	HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Wang, C.  et al. 2004	15021309				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of acquired immune deficiency syndromes (1999). 2004 Apr;35(5):446-54	Cytokine and chemokine gene polymorphisms among ethnically diverse North Americans with HIV-1 infection.		147620	27519	2	2004	Coupled with previous findings, our data suggest that heritable IL4 and IL10 variations may contribute to the acquisition or progression of HIV infection and that the effects of other targeted loci in the cytokine and chemokine system cannot be established unequivocally in the study populations.	Cohort 579 North Americans at high risk of HIV-1 infection due to sexual behavior and injection drug use` 										
140551		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	7	7p21	IL6	22733322	22738141		Forre, O.  et al. 2002	12195624				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		147620	27767	2	2002	Review article											
140552		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	7	7p21	IL6	22733322	22738141		Rocha, V.  et al. 2002	12393699				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		147620	27768	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
140553		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141			16389181				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The lancet oncology. 2006 Jan;7(1):27-38	Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymphConsortium		147620	27769	2	2006												
140554		arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Donn, R. P.  et al. 2001	11315919				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Arthritis and rheumatism. 2001 Apr;44(4):802-10	Cytokine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. British Paediatric Rheumatology Study Group.		147620	27770	2	2001	 An association between JIA and a previously unreported 3'UTR polymorphism of IRF-1 was observed. This association was not found to be specific to any particular JIA subgroup. This suggests that IRF-1 may contribute to a common pathogenesis shared by all JIA patients, regardless of clinical phenotype. This is most likely to be a genetic contribution to the chronic inflammatory process that underlies JIA pathology.	Control:276 unrelated helthy controls:Britain;Case:417 Caucasian patients with cliniclly characterized juvenile idiopathic arthritis:Britain										
140555	N	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	7	7p21	IL6	22733322	22738141		Vasilescu, A.  et al. 2003	12944981				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Genes and immunity. 2003 Sep;4(6):441-9	Genomic analysis of Th1-Th2 cytokine genes in an AIDS cohort: identification of IL4 and IL10haplotypes associated with the disease progression.		147620	27771	2	2003	Statistically significant associations were observed with haplotypes of the IL4 and IL10 genes, but no relation was found with variants of other genes. The catalogue of SNP and haplotypes presented here will facilitate further genetic investigations of Th1-Th2 cytokines in AIDS and other immune-related disorders.	Case:337 HIV-1 seropositive extreme patients (the GRIV cohort) consisting of patients with slow progression and rapid progression;Control:470 healthy controls										
140556		hepatitis C; longevity	INFECTION	INF		7	7p21	IL6	22733322	22738141		Pyo, C. W.  et al. 2003	14522096				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Korean		CDC GDPinfo	3569	Hs.512234			Human immunology. 2003 Oct;64(10):979-89	Polymorphisms of IL-1B, IL-1RN, IL-2, IL-4, IL-6, IL-10, and IFN-gamma genes in the Korean population		147620	27772	2	2003	These results may be helpful for understanding transplant-related complications, immune or autoimmune diseases, and malignant diseases in the Korean population.	Cohort 311 unrelated healthy Korean individuals Korea 										
140557		HIV; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate	INFECTION	INF		7	7p21	IL6	22733322	22738141		De Capei, M. U.  et al. 2003	12558814				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			European journal of immunogenetics. 2003 Feb;30(1):10-May	Genotyping for cytokine polymorphisms: allelefrequencies in the Italian population		147620	27773	2	2003	Allele and genotype frequencies and linkage disequilibria were calculated and compared with those of other populations.	Cohort 140 healthy Italian subjects 										
140558		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Warle, M. C.  et al. 2002	12089714				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		147620	27946	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
140559	Y	renal transplantation, rejection after	UNKNOWN	UNK	Cadaver|Acute Disease	7	7p21	IL6	22733322	22738141		Marshall, S. E.  et al. 2001	11233912				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2001 Feb;71(3):469-76	Donor cytokine genotype influences the development of acute rejection after renal transplantation.		147620	27947	2	2001	 This study identifies donor IL-6 genotype as a major genetic risk factor for the development of acute rejection after renal transplantation. This provides evidence that donor-derived cytokines play a major role in determining outcome after transplantation, and will contribute to the development of therapeutic algorithms to predict individuals at particularly high risk of acute rejection.	Cohort 145 cadaveric renal allograft donors 										
140561		graft versus host disease	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Daly, A. K.  et al. 2002	12083951				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		147620	28068	2	2002	Review article											
140562	Y	disc disease, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Sciatica	7	7p21	IL6	22733322	22738141		Noponen-Hietala, N.  et al. 2005	15733644				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Pain. 2005 Mar;114(2-Jan):186-94	Genetic variations in IL6 associate with intervertebral disc disease characterized by sciatica.		147620	28069	2	2005	These findings support the role of IL-6 genetic variations in discogenic pain.	Case:155 patients withintervertebral disc disease-related:sciatica;Control:179:controls										
140563		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	7	7p21	IL6	22733322	22738141		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		147620	28160	2	2002	Review article											
140564		Q fever	UNKNOWN	UNK	Q Fever|Fatigue Syndrome, Chronic	7	7p21	IL6	22733322	22738141		Helbig, K. J.  et al. 2003	12595908				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Genes and immunity. 2003 Jan;4(1):82-5	Variation in immune response genes and chronic Q fever. Concepts: preliminary test with post-Q feverfatigue syndrome.		147620	28161	2	2003	These results indicate a possible genetic role in the expression of overt chronic Q fever. Further studies will be undertaken to increase sample sizes, to survey other forms of crhonic Q fever and to examine Q fever patietns who have recovered without sequelae	Case:23 patients with post-Q fever fatigue syndrome adelaide, South Australia;Control:42 blood donors	QT-prolonging drugs									
140565		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Trajkov, D.  et al. 2005	16100774				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147620	28162	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
140566		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	7	7p21	IL6	22733322	22738141		Wang, C.  et al. 2004	15057902				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		147620	28231	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
140567		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Cinek, O.  et al. 2004	15170937				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Czech	Czech Republic	CDC GDPinfo	3569	Hs.512234			The Journal of rheumatology. 2004 Jun;31(6):1206-10	Association of single nucleotide polymorphisms within cytokine genes with juvenile idiopathic arthritis in the Czech population.		147620	28232	2	2004	 Our study showed association with JIA for the IL-4 -1098 T/G polymorphism. It also underlines the genetic contribution of IL-1 polymorphisms to the pathogenesis of JIA, as another polymorphism within the IL-1beta may influence the risk of the disease.	Control:102 healthy unrelated blood donors;Case:130 patients with juvenile idiopathic arthritis (63 male, 67 female; age at onset 7.6 +/- 4.4 yrs; 43 oligoarticular, 72 polyarticular, 15 systemic form)										
140568		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	7	7p21	IL6	22733322	22738141		Navarro-Lopez, F.   2002	11975906				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		147620	28467	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
140569		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Barton, A.  et al. 2002	11981324				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		147620	28502	2	2002	Review article											
140570		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	7	7p21	IL6	22733322	22738141		Zee, R. Y.  et al. 2002	12082592				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		147620	28632	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
140571	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	5	5q11	IL6ST	55272450	55326520	0.009	Suzuki A 2004	15081423				interleukin 6 signal transducer (gp130, oncostatin M receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002184.2	Japanese	Japan	KGB	3572	Hs.532082			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		600694	3761	1	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
140572		obesity; hyperandrogenism	METABOLIC	MET	Obesity|Hyperandrogenism	5	5q11	IL6ST	55272450	55326520		Escobar-Morreale, H. F.  et al. 2003	12917504				Interleukin 6 signal transducer (gp130, oncostatin M receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002184.2			CDC GDPinfo	3572	Hs.532082			Obesity research. 2003 Aug;11(8):987-96	Association of polymorphisms in the interleukin 6 receptor complex with obesity and hyperandrogenism		600694	22606	2	2003	Polymorphisms in the gp130 and IL6R-alpha loci influence hyperandrogenism and obesity, respectively. Our present results further suggest that proinflammatory genotypes are involved in the pathogenesis of these common metabolic disorders.	Case:143 hyperandrogenic patients:Spain;Control:45 healthy women										
140574	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	17	17p11	IL6STP				Auernhammer, C. J.  et al. 2005	15754404				interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene				CDC GDPinfo	3573				World journal of gastroenterology. 2005 Feb;11(8):1196-9	Role of the intracellular receptor domain of gp130 (exon 17) in human inflammatory bowel disease.			17787	2	2005	 There is no evidence that mutations in exon 17 of the gp130 gene are involved in the pathogenesis of human IBD.	Cohort 146 patients with irritable bowel diseaseclassified as having Crohn's disease (n = 73) or ulcerative colitis (n = 63), or as indeterminate status (n = 10) 										
140575	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626	0.013	Akahoshi M 2003	12596048	allele 2: R214-T365-R378		coding sequence	interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Japanese	Japan	Mitsuteru Akahoshi	3594	Hs.567294			Human genetics. 2003 Mar;112(3):237-43	Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.		601604	3880	1	2003	These data suggest that the R214-T365-R378 allele, i.e., variation in IL12RB1, contribute to tuberculosis susceptibility in the Japanese population. This genetic variation may predispose individuals to tuberculosis infection by diminishing receptor responsiveness to IL-12 and to IL-23, leading to partial dysfunction of interferon-gamma-mediated immunity.	Control:197 healthy controls;Case:98 Japanese patients with tuberculosis										
140576	N	diabetes, type 1	IMMUNE	IMM	Asthma|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Bassuny WM 2004	12719941				interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Japanese	Japan	Y Wang	3594	Hs.567294			Immunogenetics. 2003 Jun;55(3):189-92	Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population		601604	3881	1	2003	AS a result, we could not find a positive association of these polymorphisms with type 1 diabetes or asthma in the Japanese population.	Case:150/158 patients with type 1 diabetes (n=150) and with atopic asthma (n=158):Japan;Control:200 normal children										
140577	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Akahoshi, M.  et al. 2003	12596048				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Japanese	Japan	CDC GDPinfo	3594	Hs.567294			Human genetics. 2003 Mar;112(3):237-43	Influence of interleukin-12 receptor beta1 polymorphisms on tuberculosis.		601604	11683	2	2003	These data suggest that the R214-T365-R378 allele, i.e., variation in IL12RB1, contribute to tuberculosis susceptibility in the Japanese population. This genetic variation may predispose individuals to tuberculosis infection by diminishing receptor responsiveness to IL-12 and to IL-23, leading to partial dysfunction of interferon-gamma-mediated immunity.	Control:197 healthy controls;Case:98 Japanese patients with tuberculosis										
140579		asthma; atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Takahashi, N.  et al. 2005	16159888			promoter	Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDPinfo	3594	Hs.567294			Human molecular genetics. 2005 Nov;14(21):3149-59	Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.		601604	11687	2	2005												
140580	N	asthma; diabetes, type 1	IMMUNE	IMM	Asthma|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Bassuny, W. M.  et al. 2003	12719941				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Japanese	Japan	CDC GDPinfo	3594	Hs.567294			Immunogenetics. 2003 Jun;55(3):189-92	Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.		601604	17699	2	2003	AS a result, we could not find a positive association of these polymorphisms with type 1 diabetes or asthma in the Japanese population.	Case:150/158 patients with type 1 diabetes (n=150) and with atopic asthma (n=158):Japan;Control:200 normal children										
140581		leprosy	INFECTION	INF	Leprosy, Lepromatous|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Lee, S. B.  et al. 2003	12743658				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Korean	Korea	CDC GDPinfo	3594	Hs.567294			Immunogenetics. 2003 Jun;55(3):177-81	Missense mutations of the interleukin-12 receptor beta 1(IL12RB1) and interferon-gamma receptor 1 (IFNGR1) genes are not associated with susceptibility to lepromatous leprosy in Korea.		601604	22458	2	2003	In conclusion, missense mutations of 705 A/G (Q214R), 1196 G/C (G378R), 1637 G/A (A525T), 1664 C/T (P534S) of the IL12RB1, 83 G/A (V14 M), and 1443 T/C (L467P) of the IFNGR1 encoding genes have no association with the susceptibility to lepromatous leprosy in the Korean population.	Case:93 Korean lepromatous leprosy patients;Control:94 control subjects										
140583		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Orozco, G.  et al. 2005	15993716				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDPinfo	3594	Hs.567294			Human immunology. 2005 Jun;66(6):710-5	Interleukin 12 (IL12B) and interleukin 12 receptor (IL12RB1) gene polymorphisms in rheumatoid arthritis.		601604	22460	2	2005												
140584		panencephalitis, subacute sclerosing	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Inoue, T.  et al. 2002	12020266				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Japanese		CDC GDPinfo	3594	Hs.567294			Archives of neurology. 2002 May;59(5):822-7	Contribution of the interleukin 4 gene to susceptibility to subacute sclerosing panencephalitis.		601604	27010	2	2002	 To our knowledge, this study is the first to demonstrate the possibility that the IL-4 promoter gene -589 T gene polymorphism with increased IL-4 synthesis in combination with IRF-1 allele 1 confers host genetic susceptibility to SSPE in Japanese subjects.	Case Japanese patients with subacute sclerosing:panencephalitis;Control:controls										
140585		sarcoidosis; tuberculosis	IMMUNE	IMM	Sarcoidosis	19	19p13.1	IL12RB1	18031370	18070626		Akahoshi, M.  et al. 2004	15004750				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1		Japan	CDC GDPinfo	3594	Hs.567294			Human genetics. 2004 Apr;114(5):503-9	Association between IFNA genotype and the risk of sarcoidosis.		601604	27751	2	2004	This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis.	Case:102/114 Japanese patients with sarcoidosis (n=102) and with:tuberculosis (n=114);Control:110 control subjects										
140586		hepatitis C	INFECTION	INF	Hepatitis C|Viremia|Disease Progression|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Saito, T.  et al. 2004	15063762				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1		Japan	CDC GDPinfo	3594	Hs.567294			Biochemical and biophysical research communications. 2004 Apr;317(2):335-41	Genetic variations in humans associated with differences in the course of hepatitis C.		601604	28464	2	2004	The sorted genes allow us to draw novel hypotheses for future studies of HCV infection to ultimately identify bona fide genes and their variations.	Cohort 238 Japanese individuals positive for anti-HCV antibody 										
140587		diabetes, type 2; liver disease	UNKNOWN	UNK		5	5q11.2	ITGA1	52119530	52285242		Shi, J.  et al. 2001	11877061			coding sequence	integrin, alpha 1		Chinese		CDC GDPinfo	3672	HS.439320			Zhonghua xue ye xue za zhi. 2001 Mar;22(3):125-7	[Study of C807T polymorphism of the platelet collagen receptor alpha2 gene coding sequence in Suzhou Han population]		192968	11974	2	2001	 The C807T polymorphism of the platelet collagen receptor alpha2 gene in Suzhou Han population was different from that observed in other populations.	Cohort 110 unrelated individuals 										
140588		coronary artery bypass grafting; platelet hyperreactivity	CARDIOVASCULAR	CARD		5	5q11.2	ITGA1	52119530	52285242		Golanski, J.  et al. 2001	11454259				integrin, alpha 1				CDC GDPinfo	3672	HS.439320			Platelets. 2001 Jun;12(4):241-7	Platelet hyperreactivity after coronary artery bypass grafting: the possible relevance toglycoprotein polymorphisms. A preliminary report.		192968	17855	2	2001	The platelet hyperfunction seems to relate to the occurrence of platelet glycoprotein polymorphisms GPIa(807)C/T and GPIIIa PlA(1/A2) and may be important in predicting postoperative vascular complications in CABG patients.	Cohort 32 IHD patients (56 +/- 8 years) subjected to CABG surgery 										
140589		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	5	5q11.2	ITGA1	52119530	52285242		Rudack, C.  et al. 2004	15109703				integrin, alpha 1				CDC GDPinfo	3672	HS.439320			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		192968	25115	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
140590		Kallmann syndrome	OTHER	OTH	Kallmann Syndrome|Genetic Predisposition to Disease	X	Xp22.32	KAL1	8456914	8660227		Sato N 2004	15001591				Kallmann syndrome 1 sequence	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000216.1			KGB	3730	Hs.521869			The Journal of clinical endocrinology and metabolism. 2004 Mar;89(3):1079-88	Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.		308700	4130	1	2004												
140591	Y	cardiovascular	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Schulze-Bahr E et al. 2001	11692163				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			KGB	3753	Hs.121495			Journal of molecular medicine (Berlin, Germany). 2001 Sep;79(9):504-9	A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.		176261	4132	1	2001												
140592	Y	cardiovascular	CARDIOVASCULAR	CARD	Atrial Fibrillation|Heart Valve Diseases|Ventricular Dysfunction, Left	21	21q22.1-q22.2	KCNE1	34740857	34806443		Lai LP et al. 2002	12228786				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			KGB	3753	Hs.121495			American heart journal. 2002 Sep;144(3):485-90	Association of the human minK gene 38G allele with atrial fibrillation: evidence of possible genetic control on the pathogenesis of atrial fibrillation.		609426	4133	1	2002	 We report the association between the minK 38G allele and clinical atrial fibrillation. Our findings suggest possible genetic control on the pathogenesis of atrial fibrillation.	Case:108 patients with atrial fibrillation;Control:108 control subjects matched regarding age, sex, presence of valvular heart disease, and presence of left ventricular dysfunction										
140594		EKG, abnormal; Brugada syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Heart Arrest|Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Lai, L. P.  et al. 2005	16155735				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			Journal of human genetics. 2005 ;50(9):490-6	Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.		176261	12082	2	2005												
140595		EKG, abnormal	CARDIOVASCULAR	CARD		21	21q22.1-q22.2	KCNE1	34740857	34806443		Gouas, L.  et al. 2005	16132053				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			European journal of human genetics. 2005 Nov;13(11):1213-22	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.		176261	13555	2	2005				KCNQ1		KCNE1		KCNH2 and SCN5A		Y	"heart rate, gender and age"	arrhythmias or cardiac sudden death in patients with cardiovascular diseases
140596		long-QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Itoh, T.  et al. 2001	11289718				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			Journal of human genetics. 2001 ;46(1):38-40	Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.		176261	17900	2	2001	In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.	Cohort patients responding to beta-adrenergic blocking agents 	beta blockers									
140597		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Genetic Predisposition to Disease	21	21q22.1-q22.2	KCNE1	34740857	34806443		Ackerman, M. J.  et al. 2003	14661677				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2		United States	CDC GDPinfo	3753	Hs.121495			Mayo Clinic proceedings Mayo Clinic. 2003 Dec;78(12):1479-87	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibilityto sudden cardiac death and genetic testing for congenital long QT syndrome.		176261	17901	2	2003	 To our knowledge, this study represents the first comprehensive determination of the frequency and spectrum of cardiac channel variants found among healthy subjects from 4 major ethnic groups. Defining the population burden of genetic variants in these critical cardiac ion channels is crucial for proper interpretation of genetic test results of individuals at risk for LQTS. This compendium provides a resource for epidemiological and functional investigation of variant effects on the repolarization properties of cardiac tissues, including susceptibility to lethal cardiac arrhythmias.	Cohort 744 apparently healthy individuals-305 black, 187 white, 134 Asian, and 118 Hispanic 										
140598		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Paulussen, A. D.  et al. 2004	14760488				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			Journal of molecular medicine (Berlin, Germany). 2004 Mar;82(3):182-8	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.		176261	17902	2	2004	We conclude that  missense mutations in the examined cLQTS genes explain only a minority of aLQTS cases.	Case:32 durg-induced acquired long QT syndrome patients with confirmed torsade de pointes;Control:32 healthy individuals										
140599		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Westenskow, P.  et al. 2004	15051636				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			Circulation. 2004 Apr;109(15):1834-41	Compound Mutations. A Common Cause of Severe Long-QT Syndrome		176261	17903	2	2004	 LQTS-associated compound mutations cause a severe phenotype and are more common than expected. Individuals with compound mutations need to be identified, and their management should be tailored to their increased risk for arrhythmias.	Cohort 252 Long QT syndrome probands 										
140600		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Fodstad, H.  et al. 2004	15176425				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Finnish	Finland	CDC GDPinfo	3753	Hs.121495			Annals of medicine. 2004 ;36 Suppl 1:53-63	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.		176261	17904	2	2004	 The extent of genetic homogeneity underlying LOTS in Finland is unique in the whole world, providing a major advantage for screening and presymptomatic diagnosis of LOTS, and constituting an excellent basis to study the role of genetic and non-genetic factors influencing phenotypic variability in this disease.	Cohort 188 unrelated probands with long-QT syndrome 										
140601		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Pfeufer, A.  et al. 2005	15746444				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2		Germany	CDC GDPinfo	3753	Hs.121495			Circulation research. 2005 Apr;96(6):693-701	Common variants in myocardial ion channel genes modify the QT interval in the general population:results from the KORA study.		176261	17905	2	2005	These results confirm previous heritability studies indicating that repolarization is a complex trait with a significant heritable component and demonstrate that high-resolution SNP-mapping in large population samples can detect and fine map quantitative trait loci even if locus specific heritabilities are small.	Cohort 689 individuals from the population-based KORA study 										
140603	Y	antisense paternal transcript and loss of imprinting	OTHER	OTH	Long QT Syndrome|Beckwith-Wiedemann Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Smilinich NJ et al. 1999	10393948				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Proceedings of the National Academy of Sciences of the United States of America. 1999 Jul;96(14):8064-9	A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.		607542	4165	1	1999												
140604	Y	Jervell and Lange-Nielsen syndrome	OTHER	OTH	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Chen Q et al. 1999	10077519				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Circulation. 1999 Mar;99(10):1344-7	Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.		607542	4166	1	1999	 A novel homozygous KVLQT1 mutation causes JLNS in an Amish family with deafness that is inherited as an autosomal recessive trait.											
140605		normal and arrhythmia	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Seebohm G 2003	14576198				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Circulation research. 2003 Nov;93(10):941-7	Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.		607542	4167	1	2003												
140607		Long QT syndrome	CARDIOVASCULAR	CARD	Bradycardia|Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Lupoglazoff JM 2004	14998624				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Journal of the American College of Cardiology. 2004 Mar;43(5):826-30	Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.		607542	4169	1	2004	 Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy.	Cohort 23 neonate probands with long QT syndrome										
140608	Y	long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Larsen LA et al. 1999	10090529				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Clinica chimica acta; international journal of clinical chemistry. 1999 Feb;280(2-Jan):113-25	A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene associated with long QT syndrome.		607542	4170	1	1999												
140610		long QT syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Kubota, T.  et al. 2001	11761407				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2		Japan	CDC GDPinfo	3784	Hs.95162			Journal of cardiovascular electrophysiology. 2001 Nov;12(11):1223-9	Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias		607542	12081	2	2001	 We demonstrate that a common polymorphism in the KCNQ1 potassium channel could be a molecular basis for mild I(Ks) dysfunction that, in the presence of appropriate precipitating factors, might predispose potential gene carriers to life-threatening arrhythmias in a specific population.	Cohort 95 patients with definitive or suspected LQTS 										
140611	N	EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Zareba, W.  et al. 2003	14678125				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2		United States	CDC GDPinfo	3784	Hs.95162			Journal of cardiovascular electrophysiology. 2003 Nov;14(11):1149-53	Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome		607542	17928	2	2003	 There are no significant differences in clinical presentation, ECG parameters, and cardiac events among LQT1 patients with different locations of KCNQ1 mutations. These findings indicate that factors other than location of mutation influence clinical phenotype in patients with LQT1 mutations.	Cohort 294 long QT syndrome patients 										
140612		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Jongbloed, R.  et al. 2002	12402336				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Human mutation. 2002 Nov;20(5):382-91	DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.		607542	22696	2	2002	We conclude that  this method is suitable for rapid identification of LQT gene defects due to the combination of automation, high throughput, sensitivity, and short time of analysis.	Case:32 index patients diagnosed with LQTS syndrome										
140613		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Drowning	11	11p15.5	KCNQ1	2422796	2826916		Lunetta, P.  et al. 2003	12690509				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			International journal of legal medicine. 2003 Apr;117(2):115-7	Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water.		607542	22697	2	2003	The detection of a LQTS founder mutation in a body found in water is a relatively rare event based on our study sample. This finding is, however, of utmost medico-legal importance, since it broadens the spectrum of potential causes and manners of death.	Cohort 165 consecutive bodies found in water Finland 										
140614		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Zareba, W.  et al. 2003	12849668				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of the American College of Cardiology. 2003 Jul;42(1):103-9	Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.		607542	22698	2	2003	Age and gender have different, genotype-specific modulating effects on the probability of cardiac events and electrocardiographic presentation in LQT1 and LQT2 patients.	Cohort 243/209/81 cases of LQTS caused by the KCNQ1 potassium channel gene mutations (n=243), cases of LQTS caused by the HERG potassium channel gene mutations (n=209), and cases of LQTS caused by the SCN5A sodium channel gene mutation (n=81) 										
140615		EKG, abnormal	CARDIOVASCULAR	CARD	Bradycardia|Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Lupoglazoff, J. M.  et al. 2004	14998624				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of the American College of Cardiology. 2004 Mar;43(5):826-30	Long QT syndrome in neonates: conduction disordersassociated with HERG mutations and sinus bradycardia with KCNQ1 mutations.		607542	22699	2	2004	 Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy.	Cohort 23 neonate probands with long QT syndrome 										
140616		long QT syndrome	CARDIOVASCULAR	CARD	Syncope|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac	11	11p15.5	KCNQ1	2422796	2826916		Schwartz, P. J.  et al. 2001	11136691				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Circulation. 2001 Jan;103(1):89-95	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers forlife-threatening arrhythmias.		607542	22700	2	2001	 Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches.	Cohort 670 LQTS patients of known genotype (LQT1, n=371; LQT2, n=234; LQT3, n=65) who had symptoms (syncope, cardiac arrest, sudden death) 	emotion physical activity sleep/rest									
140617		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Allan, W. C.  et al. 2001	11743032				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of medical screening. 2001 ;8(4):173-7	Long QT syndrome in children: the value of ratecorrected QT interval and DNA analysis as screening tests in the general population.		607542	22701	2	2001	 The only available screening test for LQTS is ECG measurement. If DNA technology becomes available for screening, unit costs must be very low to be competitive. There are multiple problems with screening for LQTS: only a minority of children will be detected, cost/death avoided is high, and pilot studies would need to be in place for 5-10 years to document efficacy.	Case:117 children affected with long QT syndrom;Control:133 unaffected children										
140618		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Yang, P.  et al. 2002	11997281				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Circulation. 2002 Apr;105(16):1943-8	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes		607542	22702	2	2002	 DNA variants in the coding regions of congenital long-QT disease genes predisposing to aLQTS can be identified in approximately 10% to 15% of affected subjects, predominantly in genes encoding ancillary subunits.	Control:67 controls drawn from patients tolerating QT-prolonging drugs;Case:92 cohort of long-QT syndrome	QT-prolonging drugs									
140620		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Chatrath, R.  et al. 2004	15534720				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Pediatric cardiology. 2004 Sep-Oct;25(5):459-65	Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome.		607542	22704	2	2004	In this study cohort, one-fourth of genotyped LQTS probands failed beta-blocker therapy. Treatment with atenolol, young age at diagnosis, initial presentation with ACA, KVLQT1 genotype, and noncompliance may be important factors underlying beta-blocker therapy failures.	Cohort 28 patients with symptomatic long-QT syndrome 	beta blockers									
140621		EKG, abnormal	CARDIOVASCULAR	CARD	Syncope|Heart Defects, Congenital|Death, Sudden, Cardiac|Long QT Syndrome|Heart Arrest|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Khositseth, A.  et al. 2004	15851119				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Heart rhythm. 2004 May;1(1):60-4	Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.		607542	25148	2	2004	 There is a relatively gene-specific molecular basis underlying cardiac events during the postpartum period in LQTS. Along with previous gene-specific associations involving swimming and LQT1 as well as auditory triggers and LQT2, this association between postpartum cardiac events and LQT2 can facilitate strategic genotyping.	Cohort 388 unrelated patients (260 females, average age at diagnosis, 23 years, and average QTc, 482 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing 										
140622		EKG, abnormal; Brugada syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Heart Arrest|Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Lai, L. P.  et al. 2005	16155735				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of human genetics. 2005 ;50(9):490-6	Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.		607542	25149	2	2005												
140623		EKG, abnormal	CARDIOVASCULAR	CARD		11	11p15.5	KCNQ1	2422796	2826916		Gouas, L.  et al. 2005	16132053				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			European journal of human genetics. 2005 Nov;13(11):1213-22	Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.		607542	25150	2	2005												
140624		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Ackerman, M. J.  et al. 2003	14661677				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2		United States	CDC GDPinfo	3784	Hs.95162			Mayo Clinic proceedings Mayo Clinic. 2003 Dec;78(12):1479-87	Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibilityto sudden cardiac death and genetic testing for congenital long QT syndrome.		607542	26346	2	2003	 To our knowledge, this study represents the first comprehensive determination of the frequency and spectrum of cardiac channel variants found among healthy subjects from 4 major ethnic groups. Defining the population burden of genetic variants in these critical cardiac ion channels is crucial for proper interpretation of genetic test results of individuals at risk for LQTS. This compendium provides a resource for epidemiological and functional investigation of variant effects on the repolarization properties of cardiac tissues, including susceptibility to lethal cardiac arrhythmias.	Cohort 744 apparently healthy individuals-305 black, 187 white, 134 Asian, and 118 Hispanic 										
140625		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Pfeufer, A.  et al. 2005	15746444				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2		Germany	CDC GDPinfo	3784	Hs.95162			Circulation research. 2005 Apr;96(6):693-701	Common variants in myocardial ion channel genes modify the QT interval in the general population:results from the KORA study.		607542	26347	2	2005	These results confirm previous heritability studies indicating that repolarization is a complex trait with a significant heritable component and demonstrate that high-resolution SNP-mapping in large population samples can detect and fine map quantitative trait loci even if locus specific heritabilities are small.	Cohort 689 individuals from the population-based KORA study 										
140626		long-QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Itoh, T.  et al. 2001	11289718				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of human genetics. 2001 ;46(1):38-40	Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.		607542	26348	2	2001	In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.	Cohort patients responding to beta-adrenergic blocking agents 	beta blockers									
140627		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Paulussen, A. D.  et al. 2004	14760488				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Journal of molecular medicine (Berlin, Germany). 2004 Mar;82(3):182-8	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.		607542	26349	2	2004	We conclude that  missense mutations in the examined cLQTS genes explain only a minority of aLQTS cases.	Case:32 durg-induced acquired long QT syndrome patients with confirmed torsade de pointes;Control:32 healthy individuals										
140628		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Westenskow, P.  et al. 2004	15051636				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Circulation. 2004 Apr;109(15):1834-41	Compound Mutations. A Common Cause of Severe Long-QT Syndrome		607542	26350	2	2004	 LQTS-associated compound mutations cause a severe phenotype and are more common than expected. Individuals with compound mutations need to be identified, and their management should be tailored to their increased risk for arrhythmias.	Cohort 252 Long QT syndrome probands 										
140629		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Fodstad, H.  et al. 2004	15176425				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Finnish	Finland	CDC GDPinfo	3784	Hs.95162			Annals of medicine. 2004 ;36 Suppl 1:53-63	Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.		607542	26351	2	2004	 The extent of genetic homogeneity underlying LOTS in Finland is unique in the whole world, providing a major advantage for screening and presymptomatic diagnosis of LOTS, and constituting an excellent basis to study the role of genetic and non-genetic factors influencing phenotypic variability in this disease.	Cohort 188 unrelated probands with long-QT syndrome 										
140631		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	19	19q13.4	KIR2DL3	59927795	60001550		Naumova, E.  et al. 2004	15248031				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730		Bulgaria	CDC GDPinfo	3804	Hs.512573			Cancer immunology, immunotherapy. 2005 Feb;54(2):172-8	Genetic polymorphism of NK receptors and their ligands in melanoma patients: prevalence ofinhibitory over activating signals.		604938	22713	2	2004	The data obtained in this study imply that there may not be a direct association between KIR gene content in the genome and the presence of malignant melanoma, or melanoma progression. However, some HLA haplotypes could be predisposing to MM in the Bulgarian population. Furthermore, distinct KIR/HLA ligand combinations may be relevant to the development of malignancy whereby inhibition overrides activation of NK cells and T cells expressing NK-associated receptors, which in turn might facilitate tumor escape and progression.	Case:50 patients with malignant melanoma (MM) in different stages of disease:Bulgaria;Control:54:controls										
140632		celiac disease	IMMUNE	IMM		19	19q13.4	KIR2DL3	59927795	60001550		Leung, W.  et al. 2005	15879158				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDPinfo	3804	Hs.512573			Journal of immunology (Baltimore, Md :  1950). 2005 May;174(10):6540-5	Comparison of Killer Ig-Like Receptor Genotyping and Phenotyping for Selection of Allogeneic Blood Stem Cell Donors		604938	25154	2	2005	These results caution the use of genotyping alone for donor selection or leukemia-relapse prognostication because some KIRs may be expressed at a very low level.	Cohort 73 unrelated leukemia persons 										
140633		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DL3	59927795	60001550		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730	Chinese		CDC GDPinfo	3804	Hs.512573			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604938	25155	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140634		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DL3	59927795	60001550		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDPinfo	3804	Hs.512573			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604938	25156	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140635		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR2DL3	59927795	60001550		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDPinfo	3804	Hs.512573			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604938	25157	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
140636	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	KIR2DL3	59927795	60001550		Moodie, S. J.  et al. 2002	12121272				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDPinfo	3804	Hs.512573			European journal of immunogenetics. 2002 Aug;29(4):287-91	Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIRand LILR gene clusters.		604938	25158	2	2002	Case-control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.	Case:132 unrelated UK Caucasian coeliac patients;Control:171 UK Caucasians										
140637		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	19	19q13.4	KIR2DL3	59927795	60001550		Williams, F.  et al. 2005	16112031				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDPinfo	3804	Hs.512573			Human immunology. 2005 Jul;66(7):836-41	Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.		604938	25159	2	2005												
140638		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		19	19q13.4	KIR2DL3	59927795	60001550		Rajalingam, R.  et al. 2002	11904677				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730	Caucasian		CDC GDPinfo	3804	Hs.512573			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		604938	27954	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
140639	N	pre-eclampsia.	REPRODUCTION	REP	Pre-Eclampsia	19	19q13.4 		KIR2DL4	59989604	60070482	n	Witt CS et al. 2002	11754000				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255		Australia	KGB	3805	Hs.535564			European journal of immunology. 2002 Jan;32(1):18-29	Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia.		604945	4174	1	2002	The frequencies of alleles with the DeltaTM mutation or Ig-domain polymorphisms did not differ between women who experienced pre-eclampsia and normotensive controls. Similarly there was no difference in the KIR gene repertoire in pre-eclampsia and normotensive controls.	Case women who experienced pre-eclampsia;Control normotensive controls										
140640	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	19	19q13.4	KIR2DL4	59989604	60070482		Witt, C. S.  et al. 2002	11754000				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255		Australia	CDC GDPinfo	3805	Hs.166085			European journal of immunology. 2002 Jan;32(1):18-29	Alleles of the KIR2DL4 receptor and their lack of association with pre-eclampsia.		604945	12087	2	2002	The frequencies of alleles with the DeltaTM mutation or Ig-domain polymorphisms did not differ between women who experienced pre-eclampsia and normotensive controls. Similarly there was no difference in the KIR gene repertoire in pre-eclampsia and normotensive controls.	Case women who experienced pre-eclampsia;Control normotensive controls										
140641	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	19	19q13.4	KIR2DL4	59989604	60070482		Witt, C. S.  et al. 2004	15333596				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255			CDC GDPinfo	3805	Hs.166085			Human reproduction (Oxford, England). 2004 Nov;19(11):2653-7	Maternal KIR repertoire is not associated with recurrent spontaneous abortion		604945	17937	2	2004	 The data provide little evidence that KIR polymorphism plays a role in predisposition to RSA.	Control:controls;Case recurrent spontaneous abortion patients										
140642		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DL4	59989604	60070482		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255	Chinese		CDC GDPinfo	3805	Hs.166085			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604945	26357	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140643		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DL4	59989604	60070482		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255			CDC GDPinfo	3805	Hs.166085			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604945	26358	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140645		psoriasis	IMMUNE	IMM	Psoriasis	19	19q13.4	KIR2DS1	257787	271802		Holm, S. J.  et al. 2005	16185272				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512			CDC GDPinfo	3806	Hs.512574			The Journal of investigative dermatology. 2005 Oct;125(4):721-30	Distinct HLA-C/KIR genotype profile associates with guttate psoriasis.		604952	22715	2	2005												
140646	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS1	257787	271802		LUszczek, W.  et al. 2004	15310528				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512		Poland	CDC GDPinfo	3806	Hs.512574			Human immunology. 2004 Jul;65(7):758-66	Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris.		604952	25160	2	2004	This result strongly speaks for a role of KIR2DS1 on recognition of HLA-Cw6 in susceptibility to psoriasis.	Case:116 psoriasis vulgaris patients;Control:123 healthy controls										
140647	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS1	257787	271802		Suzuki, Y.  et al. 2004	15140215				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512		Japan	CDC GDPinfo	3806	Hs.512574			The Journal of investigative dermatology. 2004 May;122(5):1133-6	Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris.		604952	25161	2	2004	The increase in KIR2DS1 has also been observed in psoriatic arthritis, another HLA-Cw6-associated disease (Martin et al, 2002). Accordingly, KIR2DS1 may be a common denominator of both diseases.	Control:50 healthy controls;Case:96 Japanese psoriasis vulgaris cases										
140648		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	19	19q13.4	KIR2DS1	257787	271802		Williams, F.  et al. 2005	16112031				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512			CDC GDPinfo	3806	Hs.512574			Human immunology. 2005 Jul;66(7):836-41	Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.		604952	26361	2	2005												
140649		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DS1	257787	271802		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512			CDC GDPinfo	3806	Hs.512574			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604952	27062	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140650		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DS1	257787	271802		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Chinese		CDC GDPinfo	3806	Hs.512574			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604952	27528	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140651	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.4	KIR2DS2	274137	288432		Van der Slik AR et al. 2003	14514651				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			Y Wang	3807	Hs.632752			Diabetes. 2003 Oct;52(10):2639-42	KIR in type 1 diabetes: disparate distribution of activating and inhibitorynatural killer cell receptors in patients versus HLA-matched control subjects		604953	7264	1	2003												
140652	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Vasculitis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS2	274137	288432		Yen, J. H.  et al. 2001	11369787				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDPinfo	3807	Hs.632752			The Journal of experimental medicine. 2001 May;193(10):1159-67	Major histocompatibility complex class I-recognizing receptors are disease risk genes in rheumatoid arthritis.		604953	17940	2	2001	These data suggest that HLA class I-recognizing receptors and HLA class I genes are genetic risk determinants that modulate the pattern of RA expression. Specifically, KIR2DS2 in conjunction with the appropriate HLA-C ligand may have a role in vascular damage by regulating CD4(+)CD28(null) T cells.	Control: 30 rheumatoid arthritic patients without vasculitis (Caucasians of Western European descent) Mayo Clinic, Rochester, MN;Case: 70 unrelated patients with rheumatoid vasculitis (Caucasians of Western European descent) Mayo Clinic, Rochester, MN;Control: 76 Caucasians of Western European descent Mayo Clinic, Rochester, MN										
140653		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.4	KIR2DS2	274137	288432		Nikitina-Zake, L.  et al. 2004	15699512				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1		Latvia	CDC GDPinfo	3807	Hs.632752			Annals of the New York Academy of Sciences. 2004 Dec;1037:161-9	Killer cell immunoglobulin-like receptor genes in Latvian patients with type 1 diabetes mellitus and healthy controls.		604953	27063	2	2004	In conclusion, our results suggest that a balance between innate and acquired immunity is important, and an imbalance coud lead to T1DM.	Control:100:controls;Case:98 Latvian patients with type 1 diabetes										
140654		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic	19	19q13.4	KIR2DS2	274137	288432		Williams, F.  et al. 2005	16112031				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDPinfo	3807	Hs.632752			Human immunology. 2005 Jul;66(7):836-41	Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.		604953	27064	2	2005												
140655		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DS2	274137	288432		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1	Chinese		CDC GDPinfo	3807	Hs.632752			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604953	27781	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140656		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DS3	240800	255821		Gagne, K.  et al. 2002	12039408				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3				CDC GDPinfo	3808	HS.375019			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604954	27529	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140657		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DS3	240800	255821		Jiang, K.  et al. 2005	15896204				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3		Chinese		CDC GDPinfo	3808	HS.375019			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604954	27955	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140658		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR2DS4	59989604	60070482		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDPinfo	3809	Hs.258612			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604955	27065	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
140659		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DS4	59989604	60070482		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314	Chinese		CDC GDPinfo	3809	Hs.258612			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604955	28072	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140660		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR2DS5	240800	255821		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081			CDC GDPinfo	3810	Hs.375019			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604956	27782	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140661		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR2DS5	240800	255821		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Chinese		CDC GDPinfo	3810	Hs.375019			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604956	28165	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140662		cervical cancer	CANCER	CAN		19	19q13.4	KIR3DL2	59989604	60070482		Meenagh, A.  et al. 2004	15304002				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595	Irish		CDC GDPinfo	3812	Hs.380156			Tissue antigens. 2004 Sep;64(3):226-34	Investigation of killer cell immunoglobulin-like receptor gene diversity V. KIR3DL2		604947	17941	2	2004	The system has been applied to a healthy Northern Irish control group, establishing frequencies for this Caucasian population. Additionally, the KIR3DL2 allele status of cell line DNA and Centre d'Etude du Polymorphisme Humain (CEPH) families, both from the 13th International Histocompatibility Workshop, has been established. A high level of KIR3DL2 allelic polymorphism has been identified.	Cohort healthy Northern Irish individuals 										
140663		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR3DL2	59989604	60070482		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595			CDC GDPinfo	3812	Hs.380156			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604947	27783	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
140664		graft versus host disease	IMMUNE	IMM		19	19q13.4	KIR3DL2	59989604	60070482		Gagne, K.  et al. 2002	12039408				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595			CDC GDPinfo	3812	Hs.380156			Human immunology. 2002 Apr;63(4):271-80	Relevance of KIR gene polymorphisms in bone marrow transplantation outcome.		604947	28074	2	2002	In conclusion, our results reveal a great diversity for KIR genotypes in donors and recipients of BMT and that the risk of GVHD was maximum in unrelated BMT when the recipient KIR genotype was "included" in the donor KIR genotype.											
140665		celiac disease; Wegener's granulomatosis; cervical cancer	CANCER	CAN		19	19q13.4	KIR3DL2	59989604	60070482		Rajalingam, R.  et al. 2002	11904677				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595	Caucasian		CDC GDPinfo	3812	Hs.380156			Immunogenetics. 2002 Mar;53(12):1009-19	Distinctive KIR and HLA diversity in a panel of north Indian Hindus		604947	28166	2	2002	A majority of the north Indian KIR gene profiles have not been seen in Caucasian and Asian populations. Most striking is a higher frequency of the B group of KIR haplotypes, resulting in equal frequencies for A and B group haplotypes in north Indians. All 72 members of the north Indian panel have different HLA genotype and different KIR genotype.	Cohort 72 north Indian Hindus 										
140666		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.4	KIR3DL2	59989604	60070482		Jiang, K.  et al. 2005	15896204				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595	Chinese		CDC GDPinfo	3812	Hs.380156			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604947	28293	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140667	Y	hepatitis C; liver cancer	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Cirrhosis|Disease Progression	19	19q13.4	KIR3DL1	59989604	60070482		Lopez-Vazquez, A.  et al. 2005	15942906				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDPinfo	3811	Hs.512572			The Journal of infectious diseases. 2005 Jul;192(1):162-5	Protective effect of the HLA-Bw4I80 epitope and the killer cell immunoglobulin-like receptor 3DS1 gene against the development of hepatocellular carcinoma in patients with hepatitis C virus infection.		604946	17944	2	2005	We found that the human leukocyte antigen-Bw4I80 epitope and the KIR3DS1 gene were more frequent in HCV carriers than in patients with hepatocellular carcinoma. Moreover, these associations were not independent of each other--the KIR3DS1/Bw4I80 genotype clearly was also more frequent in HCV carriers (odds ratio, 24.22).											
140668		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN				KIR3DS1				Jiang, K.  et al. 2005	15896204						Chinese		CDC GDPinfo	3813				Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		604957	28382	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
140669	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC2	10456180	10479859	n	Hikami K et al. 2003	12618865				killer cell lectin-like receptor subfamily C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002260.3	Japanese		Tsuchiya N	3822	Hs.591157			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602891	4181	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
140670	Y	rheumatic diseases	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC2	10456180	10479859		Hikami K 2003	12618865				killer cell lectin-like receptor subfamily C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002260.3			KEW	3822	Hs.591157			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602891	4182	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
140671	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC2	10456180	10479859	n	Hikami K et al. 2003	12618865				killer cell lectin-like receptor subfamily C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002260.3	Japanese		Tsuchiya N	3822	Hs.591157			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602891	4183	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
140673		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC2	10456180	10479859		Hikami, K.  et al. 2003	12618865				killer cell lectin-like receptor subfamily C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002260.3			CDC GDPinfo	3822	Hs.591157			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		602891	22724	2	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
140674	Y	vinyl chloride exposure	OTHER	OTH	Hemangiosarcoma|Liver Neoplasms|Occupational Diseases	12	12p12.1	KRAS	25249446	25295130		Marion MJ et al. 1991	1793483				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2		France	KGB	3845	Hs.505033			Molecular carcinogenesis. 1991 ;4(6):450-4	Activation of Ki-ras gene by point mutation in human liver angiosarcoma associated with vinyl chloride exposure.		190070	4187	1	1991												
140675	Y	lung adenocarcinoma	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Kobayashi T et al. 1990	2196110				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Cancer. 1990 Jul;66(2):289-94	Association of point mutation in c-Ki-ras oncogene in lung adenocarcinoma with particular reference to cytologic subtypes.		190070	4188	1	1990												
140676		activated K-ras gene	OTHER	OTH	Neoplasms, Germ Cell and Embryonal|Brain Neoplasms|Neoplasms, Radiation-Induced	12	12p12.1	KRAS	25249446	25295130		Brustle O et al. 1992	1314130				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Cancer. 1992 May;69(9):2385-92	Primitive neuroectodermal tumors after prophylactic central nervous system irradiation in children. Association with an activated K-ras gene.		190070	4189	1	1992												
140678	Y	pancreatic carcinoma	CANCER	CAN	Pancreatic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ikeda N et al. 2001	11505392				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Cancer. 2001 Aug;92(3):488-99	The association of K-ras gene mutation and vascular endothelial growth factor gene expression in pancreatic carcinoma.		190070	4191	1	2001	 The results of this study suggest that K-ras oncogene mutation may be associated with VEGF expression and that patients with pancreatic carcinoma who have high VEGF expression are associated with a poor prognosis.											
140679	Y	smoking	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ahrendt SA et al. 2001	11745231				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033	smoking		Cancer. 2001 Sep;92(6):1525-30	Cigarette smoking is strongly associated with mutation of the K-ras gene in patients with primary adenocarcinoma of the lung.		190070	4192	1	2001	 The results of the current study confirm and extend previous observations that smokers with adenocarcinoma of the lung are more likely to have K-ras mutant tumors compared with nonsmokers. The strong link between cigarette smoking and K-ras mutations in adenocarcinoma of the lung supports the role of specific tobacco carcinogens in the etiology of this malignancy.											
140680	Y	decreased apoptosis.	OTHER	OTH	Adenoma|Carcinoma|Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ward RL et al. 1997	9070487				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Cancer. 1997 Mar;79(6):1106-13	Activation of the K-ras oncogene in colorectal neoplasms is associated with decreased apoptosis.		190070	4193	1	1997	 These findings suggest that activation of K-ras in colorectal carcinoma may inhibit apoptosis and thus favor tumor progression. Alternatively, this association may reflect an accumulation of K-ras mutations in cells in which normal apoptotic pathways have been impaired.											
140681		longstanding ulcerative colitis	OTHER	OTH	Carcinoma|Colorectal Neoplasms|Colitis, Ulcerative	12	12p12.1	KRAS	25249446	25295130		Chaubert P et al. 1994	8160776				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			The American journal of pathology. 1994 Apr;144(4):767-75	K-ras mutations and p53 alterations in neoplastic and nonneoplastic lesions associated with longstanding ulcerative colitis.		190070	4194	1	1994												
140682	Y	colon cancer	CANCER	CAN	Colonic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Guan RJ et al. 1999	10220498				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Gastroenterology. 1999 May;116(5):1063-71	Association of K-ras mutations with p16 methylation in human colon cancer.		190070	4195	1	1999	 p16 methylation occurs frequently in human colonic adenomas and cancers and is closely associated with K-ras mutations.											
140684	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Wu MT 2003	14607331				V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2	Taiwanese	Taiwan	KGB	3845	Hs.505033			Cancer letters. 2003 Nov;201(2):175-80	Association between p21 codon 31 polymorphism and esophageal cancer risk in a Taiwanese population.		190070	7265	1	2003												
140685		colorectal carcinoma	CANCER	CAN	Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Wang JY 2003	14506738	codon 15			V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			International journal of cancer. Journal international du cancer. 2003 Nov;107(3):387-93	High frequency of activated K-ras codon 15 mutant in colorectal carcinomas from Taiwanese patients.		190070	7266	1	2003												
140686	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	12	12p12.1	KRAS	25249446	25295130		Dragani, T. A.  et al. 2000	11016621				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2	Italian		CDC GDPinfo	3845	Hs.505033			Cancer research. 2000 Sep;60(18):5017-20	Population-based mapping of pulmonary adenoma susceptibility 1 locus.		190070	17957	2	2000	the same KRAS2/RsaI polymorphism associated with risk and prognosis in Italian lung ADCA patients was found in the Japanese population; the polymorphism was significantly associated with clinical stage (P < 0.001) and survival rate (log rank = 0.0014), confirming the mapping of PAS1 and pointing to the role of this locus in human lung cancer.	Case:269/121 269 lung ADCA patients, 121 squamous cell lung carcinoma patients:Japanese;Control:632 healthy individuals										
140688	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	12	12p12.1	KRAS	25249446	25295130		Barletta, E.  et al. 2004	14688017				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Carcinogenesis. 2004 May;25(5):749-55	Ras gene mutations in patients with acute myeloid leukaemia and exposure to chemical agents.		190070	17959	2	2004	In conclusion, our data suggest that ras oncogene mutations might identify a group of leukaemia in people with previous X-ray/chemotherapy or with exposure to chemical agents in the work environment.	Case:111 acute myeloid leukaemia patients Florence and Turin, Italy	chemical agents chemotherapy radiation									
140689		lung cancer	CANCER	CAN	Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Le Calvez, F.  et al. 2005	15958551				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Cancer research. 2005 Jun;65(12):5076-83	TP53 and KRAS mutation load and types in lung cancers in relation to tobacco smoke: distinctpatterns in never, former, and current smokers.		190070	17961	2	2005			smoking (tobacco)									
140690		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Catalano, T.  et al. 2005	16077965				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Oncology reports. 2005 Sep;14(3):625-31	Mutations in the p53 and Ki-ras genes, microsatellite instability and site of tumor origin in colorectal cancer.		190070	17964	2	2005												
140691		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genomic Instability	12	12p12.1	KRAS	25249446	25295130		Westra, J. L.  et al. 2005	16110022				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Journal of clinical oncology. 2005 Aug;23(24):5635-43	Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.		190070	17965	2	2005	 Both mutant TP53 and MSI-H seem to be prognostic indicators for disease-free survival, but only TP53 retains statistical significance after adjusting for clinical heterogeneity. Thus, in adjuvantly treated patients with stage III colon cancer, presence or absence of a TP53 mutation should be considered as a better predictor for DFS than MSI status.											
140692		colorectal cancer; stomach cancer	CANCER	CAN	Colonic Neoplasms|Stomach Neoplasms	12	12p12.1	KRAS	25249446	25295130		Velho, S.  et al. 2005	15994075				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Eur J Cancer. 2005 Jul;41(11):1649-54	The prevalence of PIK3CA mutations in gastric and colon cancer.		190070	22726	2	2005												
140693		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Endometrial Hyperplasia	12	12p12.1	KRAS	25249446	25295130		Feng, Y. Z.  et al. 2005	16144912				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Clinical cancer research. 2005 Sep;11(17):6133-8	BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53mutations and mismatch repair protein expression.		190070	22727	2	2005	 These findings suggest that mutations of the BRAF gene are partly involved in the malignant transformation of the endometrium.											
140694		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Eberhard, D. A.  et al. 2005	16043828				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Journal of clinical oncology. 2005 Sep;23(25):5900-9	Mutations in the epidermal growth factor receptor and in KRAS are predictive and prognostic indicators in patients with non-small-cell lung cancer treated with chemotherapy alone and in combination with erlotinib.		190070	22728	2	2005	 EGFR mutations may be a positive prognostic factor for survival in advanced NSCLC patients treated with chemotherapy with or without erlotinib, and may predict greater likelihood of response. Patients with KRAS-mutant NSCLC showed poorer clinical outcomes when treated with erlotinib and chemotherapy. Further studies are needed to confirm the findings of this retrospective subset analysis.		carboplatin erlotinib paclitaxel									
140696		leukemia, acute myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	12	12p12.1	KRAS	25249446	25295130		Goemans, B. F.  et al. 2005	16015387				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			Leukemia. 2005 Sep;19(9):1536-42	Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia.		190070	25167	2	2005												
140698		stomach cancer	CANCER	CAN	Stomach Neoplasms	12	12p12.1	KRAS	25249446	25295130		Nan, H. M.  et al. 2005	15991278				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		190070	27532	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
140699		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	12	12p12.1	KRAS	25249446	25295130		Starinsky, S.  et al. 2004	15523694				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2		Israel	CDC GDPinfo	3845	Hs.505033			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		190070	27960	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
140700		pachyonychia congenita types 1 and 2	OTHER	OTH	Ectodermal Dysplasia|Keratoderma, Palmoplantar|Nail Diseases|	12	12q12-q13	KRT6A	51167224	51173448		Ward KM 2003	12823309				Keratin 6C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC014152			KGB	3853	Hs.367762			Clinical and experimental dermatology. 2003 Jul;28(4):434-6	Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.		148041	7267	1	2003												
140701	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	12	12q13	KRT8	51577237	51585127		Cavestro, G. M.  et al. 2003	12868678				Keratin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002273.2			CDC GDPinfo	3856	Hs.533782			Digestive and liver disease. 2003 Jun;35(6):416-20	Association of keratin 8 gene mutation with chronic pancreatitis.		148060	17969	2	2003	 G61C mutation of the keratin 8 gene, together with other environmental factors and/or genetic factors, could predispose to chronic pancreatitis, by interfering with the normal organization of keratin filaments.	Control:100 nromal controls;Case:67 chronic pancreatitis patients										
140702	N	pancreatitis, alcoholic	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic	12	12q13	KRT8	51577237	51585127			16327287				Keratin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002273.2			CDC GDPinfo	3856	Hs.533782			Pancreatology. 2005 Dec;6(2-Jan):103-108	Keratin 8 Mutations Are Not Associated with Familial, Sporadic and Alcoholic Pancreatitis in a Population from the United States		148060	17970	2	2005												
140703		liver disease, chronic	OTHER	OTH	Liver Failure|Genetic Predisposition to Disease	12	12q13	KRT8	51577237	51585127		Ku, N. O.  et al. 2005	16143128				Keratin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002273.2			CDC GDPinfo	3856	Hs.533782			Gastroenterology. 2005 Sep;129(3):885-93	Keratins as susceptibility genes for end-stage liver disease.		148060	22729	2	2005	 The overall frequency of keratin 8 and 18 variants was 12.4% in 467 liver disease explants and 3.7% in 349 blood bank controls (P < .0001). Variants can alter keratin solubility or phosphorylation and may render individuals susceptible to end-stage liver disease, depending on their genetic background and exposure to other insults, such as alcohol or viral infection.											
140704		Crohn's disease; ulcerative colitis	IMMUNE	IMM		12	12q13	KRT86	50981915	50989214		Bairwa, N. K.  et al. 2004	15183744	(-71C>T)		promoter	keratin, hair, basic, 6 (monilethrix)		Indian		CDC GDPinfo	3892	Hs.278658			Ann Genet. 2004 Apr-Jun;47(2):125-7	A novel promoter polymorphism (-71C>T) in KRTHB6 gene in Indian population		601928	12115	2	2004	The frequency of -71 C allele, allele A (Accession no AY203963), was observed to be higher ( 0.712) in comparison to -71 T allele, allele B (0.288) (Accession no. AY037552).	Cohort 125 individuals of Indian origin 										
140705		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	12	12p12.2-p12.1	LDHB	21679544	21702042		Philibert, R. A.  et al. 2003	12555229				Lactate dehydrogenase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002300.3			CDC GDPinfo	3945	Hs.446149			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):7-Nov	Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder.		150100	22733	2	2003	Given the pivotal role of LDH in the metabolism of lactate, a known inducer of panic attacks, and the dependence of LDH activity on cell pH, we suggest that LDHA polymorphisms may contribute to the variability to CO(2) respiratory challenge.	Control:182 random newborn controls;Case:25 panic disorder patients										
140706		Polycystic Ovary Syndrome (PCOS)	METABOLIC	MET	Polycystic Ovary Syndrome	1	1p31	LEPR	65658905	65875410		Oksanen L 2000	11006314	Exons 2. 4.12 and 3`-UTR			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			Molecular human reproduction. 2000 Oct;6(10):873-6			601007	7268	1	2000		Case:38; Control:122										
140707	N	Birth Weight or Maternal BMI	OTHER	OTH	Obesity|Birth Weight	1	1p31	LEPR	65658905	65875410	n	Rand L 2001	11360161	Gln223Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Asian Indian (India. Bangladesh. Pakistan) and UK/Irish	Bangladesh|India|Pakistan|Great Britain|Ireland	TJB	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2001 May;25(5):753-5			601007	7269	1	2001	 These results suggest that the Gln223Arg variant in the maternal leptin receptor gene does not explain the association between placental leptin levels and birth weight, and is not associated with variation in maternal BMI in early pregnancy in our sample.											
140708	Y	Obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Endo K 2000	10805501	Gln223Arg polymorphism			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Japanese	Japan	TJB	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2000 Apr;24(4):443-9			601007	7270	1	2000	 Trp64Arg polymorphism of the beta3-AR gene appears to be a genetic risk factor for obesity in Japanese children, but Gln223Arg polymorphism of the Ob-R gene does not appear to be associated with obesity.											
140709		BMI. Fat Mass. and Leptin Levels	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Quinton ND 2001	11354636	Gln223Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Caucasian		TJB	3953	Hs.23581			Human genetics. 2001 Mar;108(3):233-6	A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women.		601007	7271	1	2001	These observations indicate that functional variations in the leptin receptor gene are important factors in the regulation of adiposity and BMI.	Cohort posmenopausal caucasian women										
140710	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Obesity	1	1p31	LEPR	65658905	65875410	p=0.0027 ?????	Shintani M 2002	12050272	Short Size (Class I) and Long Size (Class II) ?????			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2909-12			601007	7272	1	2002												
140711	N	Obesity	METABOLIC	MET	Obesity, Morbid	1	1p31	LEPR	65658905	65875410	n	Francke S 1997	9341859				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	French Caucasian	France	TJB	3953	Hs.23581			Human genetics. 1997 Oct;100(6-May):491-6			601007	7273	1	1997												
140713	Y	Overfeeding	OTHER	OTH	Body Weight|Hyperphagia	1	1p31	LEPR	65658905	65875410		Ukkola O 2000	11123508	Gln223Arg polymorphism			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			Journal of internal medicine. 2000 Nov;248(5):435-9			601007	7275	1	2000	 We conclude that the GlnGln subjects of the LEPR gene polymorphism are more susceptible to metabolic abnormalities when they are exposed to long-term positive energy balance. These findings provide new information on the genetic basis of individual differences in response to chronically elevated food intake.											
140715	Y	Obesity	METABOLIC	MET	Obesity|Body Weight	1	1p31	LEPR	65658905	65875410		Yiannakouris N 2001	11549688	Q223R polymorphism			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			The Journal of clinical endocrinology and metabolism. 2001 Sep;86(9):4434-9			601007	7277	1	2001												
140716	N	Adiposity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410	n	Heo M 2001	11729160	K109R. Q223R. and K656N			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	African American. Caucasin. Danish. Finnish. French Caucasin. and Nigerian		TJB	3953	Hs.23581			Genetics. 2001 Nov;159(3):1163-78			601007	7278	1	2001												
140718	Y	Insulin in Obese Women with Impaired Glucose Tolerance (IGT)	METABOLIC	MET	Glucose Intolerance|Obesity	1	1p31	LEPR	65658905	65875410		Wauters M 2001	11443193	Lys109Arg. Gln223Arg. and Lys656Asn			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			The Journal of clinical endocrinology and metabolism. 2001 Jul;86(7):3227-32			601007	7280	1	2001		Case:269; Control:89										
140719	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p31	LEPR	65658905	65875410		Lakka HM et al. 2000	10947884			3' untranslated	Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			KGB	3953	Hs.23581			Journal of internal medicine. 2000 Jul;248(1):77-83	The common pentanucleotide polymorphism of the 3'-untranslated region of the leptin receptor gene is associated with serum insulin levels and the risk of type 2 diabetes in non-diabetic men: a prospective case-control study.		601007	7281	1	2000	 Our findings support the hypothesis that alterations in the leptin signalling system could contribute to serum insulin levels and the development of type 2 diabetes.											
140720	Y	body mass index and waist circumference	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Heo M et al. 2002	12032747				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			KGB	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2002 May;26(5):640-6	A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference.		601007	7282	1	2002	 We conclude that, although certain genotypic effects could be population-specific, there was no statistically compelling evidence that any of the three LEPR alleles is associated with BMI or WC in the overall population.	Cohort 3263 related and unrelated subjects from diverse ethnic backgrounds including African-American, Caucasian, Danish, Finnish, French Canadian and Nigerian										
140721	N	Juvenile Obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410	n	Echwald SM 1997	9144432				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Danish		TJB	3953	Hs.23581			Biochemical and biophysical research communications. 1997 Apr;233(1):248-52			601007	7283	1	1997		Case:156; Control:205										
140723	Y	early-onset prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p31	LEPR	65658905	65875410		Kote-Jarai Z 2003	12823393				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			KGB	3953	Hs.23581			BJU international. 2003 Jul;92(1):109-12	Association between leptin receptor gene polymorphisms and early-onset prostate cancer.		601007	7285	1	2003	 This case-control study showed no significant association between leptin receptor gene polymorphisms and the risk of young-onset prostate cancer, suggesting that genetic variations in OBR are unlikely to have a major role in the development of early-onset prostate cancer in the UK.	Case:271 patients with prostate cancer aged < 56 years at diagnosis collected through the Cancer Research UK/British Prostate Group Familial Prostate Cancer:Study;Control:277 geographically matched control subjects										
140724		obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Liu YJ 2004	14970363				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	caucasian		KGB	3953	Hs.23581			Physiological genomics. 2004 Apr;17(2):101-6	Tests of linkage and/or association of the LEPR gene polymorphisms with obesity phenotypes in Caucasian nuclear families.		601007	7286	1	2004												
140725	N	obesity	METABOLIC	MET	Diabetes Mellitus|Obesity|Obesity, Morbid	1	1p31	LEPR	65658905	65875410	n	Rolland V et al. 1998	9545018			intron	Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			KGB	3953	Hs.23581			Obesity research. 1998 Mar;6(2):122-7	Leptin receptor gene in a large cohort of massively obese subjects: no indication of the fa/fa rat mutation. Detection of an intronic variant with no association with obesity.		601007	7287	1	1998												
140726	Y	body mass; leptin; fat mass	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Quinton, N. D.  et al. 2001	11354636				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Caucasian		CDC GDPinfo	3953	Hs.23581			Human genetics. 2001 Mar;108(3):233-6	A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women.		601007	12155	2	2001	These observations indicate that functional variations in the leptin receptor gene are important factors in the regulation of adiposity and BMI.	Cohort posmenopausal caucasian women 										
140727	Y	obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Mammes, O.  et al. 2001	11380591				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			European journal of clinical investigation. 2001 May;31(5):398-404	LEPR gene polymorphisms: associations withoverweight, fat mass and response to diet in women.		601007	12156	2	2001	 In women, genetic variations at the LEPR gene level are associated with overweight and fat mass in a cross sectional study and with response to low calorie diet in an intervention study. These results indicate that variations at the leptin receptor locus are associated with common obesity phenotypes and are a part of the polygenic influences on the response to nutritional environment.	Case:179 overweight subjects recruited from the Nutrition Department of Bichat Hospital in Paris who were prescribed a low calorie diet:France;Control:387 unrelated volunteers (98 overweight, 289 normal weight) drawn from the Stanislas Family Study in:Nancy:France										
140728	Y	body mass	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Heo, M.  et al. 2002	12032747				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2002 May;26(5):640-6	A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference.		601007	12157	2	2002	 We conclude that, although certain genotypic effects could be population-specific, there was no statistically compelling evidence that any of the three LEPR alleles is associated with BMI or WC in the overall population.	Cohort 3263 related and unrelated subjects from diverse ethnic backgrounds including African-American, Caucasian, Danish, Finnish, French Canadian and Nigerian 										
140729	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p31	LEPR	65658905	65875410		Kote-Jarai, Z.  et al. 2003	12823393				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			BJU international. 2003 Jul;92(1):109-12	Association between leptin receptor gene polymorphisms and early-onset prostate cancer.		601007	12159	2	2003	 This case-control study showed no significant association between leptin receptor gene polymorphisms and the risk of young-onset prostate cancer, suggesting that genetic variations in OBR are unlikely to have a major role in the development of early-onset prostate cancer in the UK.	Case:271 patients with prostate cancer aged < 56 years at diagnosis collected through the Cancer Research UK/British Prostate Group Familial Prostate Cancer:Study;Control:277 geographically matched control subjects										
140730	N	body mass; cholesterol; insulin; glucose; blood pressure, arterial; sleep apnea; triglyceral	METABOLIC	MET	Sleep Apnea, Obstructive	1	1p31	LEPR	65658905	65875410		Huang, R.  et al. 2003	14521752	Gln223Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Zhonghua jie he he hu xi za zhi. 2003 Sep;26(9):517-21	[An investigation of the relationship between Lepr gene Gln223Arg polymorphism and obstructive sleep apnea hypopnea syndrome]		601007	12160	2	2003	 Lepr gene Gln223Arg polymorphism may be involved in the regulation of the neck regional fat distribution in OSAHS patients. It is unlikely that Lepr gene Gln223Arg polymorphism may contribute to the pathogenesis of OSAHS.	Case:103 obstructive sleep apnea hypopnea syndrome subjects;Control:78 non-obstructive sleep apnea hypopnea syndrome:subjects										
140732	Y	insulin	METABOLIC	MET	Diabetes Mellitus|Glucose Intolerance|Insulin Resistance	1	1p31	LEPR	65658905	65875410		Takahashi-Yasuno, A.  et al. 2004	15131772				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Japanese	Japan	CDC GDPinfo	3953	Hs.23581			Metabolism:  clinical and experimental. 2004 May;53(5):650-4	Association of Ob-R gene polymorphism and insulin resistance in Japanese men.		601007	12162	2	2004	These results suggest that the Ob-R gene may serve as a modifier gene for insulin resistance in Japanese men.	Cohort 696 Japanese men 										
140733	Y	insulin	METABOLIC	MET	Insulin Resistance	1	1p31	LEPR	65658905	65875410		Chiu, K. C.  et al. 2004	15132731				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			European journal of endocrinology. 2004 May;150(5):725-9	Association of leptin receptor polymorphism with insulin resistance.		601007	12163	2	2004	 We have reported the first association of the Q223R polymorphism of the LEPR gene with insulin resistance.	Cohort 67 glucose-tolerant Caucasians 										
140735	Y	obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Guizar-Mendoza, J. M.  et al. 2005	15660115	Gln223Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Mexican	Mexico	CDC GDPinfo	3953	Hs.23581			Journal of human hypertension. 2005 May;19(5):341-6	Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits related to obesity in Mexican adolescents		601007	12165	2	2005	To conclude, our results support the hypothesis that Gln223Arg polymorphism of LEPR in Mexican adolescents is associated with haemodynamic and metabolic disturbances related to obesity.	Control:48 nonobese adolescents aged between 12 and 17 years, with steady body weight for the last 3 months;Case:55 Mexican obese adolescents aged between 12 and 17 years, with steady body weight for the last 3:months										
140736		leptin levels	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Roth, M. J.  et al. 2005	15941977				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1576-8	Common leptin receptor polymorphisms do not modify the effect of alcohol ingestion on serum leptin levels in a controlled feeding and alcohol ingestion study.		601007	12167	2	2005												
140737	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2	1	1p31	LEPR	65658905	65875410		Zheng, Y.  et al. 1999	11798646				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 1999 Mar;38(3):174-7	[Association of Gln223Arg variant in leptin receptor gene with metabolic abnormalities and hypertension in type II diabetes mellitus in Shanghai "Han" population]		601007	18014	2	1999	 Gln223Arg variant in leptin receptor gene is associated with hypertension in type II diabetic male patients, especially with elevation of systolic blood pressure.	Cohort 359 unrelated subjects of Shanghai "Han" population (including 193 subjects with normal glucose tolerance and 166 type II diabetic patients) 										
140738		obesity	METABOLIC	MET	Weight Gain	1	1p31	LEPR	65658905	65875410		Van Rossum, C. T.  et al. 2003	12634434				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Dutch	Netherlands	CDC GDPinfo	3953	Hs.23581			Obesity research. 2003 Mar;11(3):377-86	Genetic variation in the leptin receptor gene, leptin, and weight gain in young Dutch adults.		601007	18015	2	2003	Relatively high leptin levels predict weight gain, suggesting that leptin resistance plays a role in the development of obesity in the general population. Higher leptin levels for those with a Lys109Arg or Gln223Arg mutation (or a linked other marker) may imply that these subjects have a modified functional leptin receptor. However, the role of these mutations on weight gain is limited.	Cohort 259/277 subjects who had gained an average of 12.6 kg (n=259) with subjects who kept stable weight (n=277) after a mean follow-up of 6.8 years 										
140739		binge eating	PSYCH	PSY	Obesity|Bulimia	1	1p31	LEPR	65658905	65875410		Branson, R.  et al. 2003	12646666				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			The New England journal of medicine. 2003 Mar;348(12):1096-103	Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.		601007	18016	2	2003	 Binge eating is a major phenotypic characteristic of subjects with a mutation in MC4R, a candidate gene for the control of eating behavior.	Control:15/10 women (n=15) and men (n=10) without a history of dieting or a family history of obesity served as normal-weight controls;Case:469 severely obese white subjects										
140740		obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Liu, C. Y.  et al. 2004	15192829				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Zhonghua yi xue yi chuan xue za zhi. 2004 Jun;21(3):252-6	[Relationship of variation 3057 G-->A of exon 20 of leptin receptor gene to lipid metabolism and fat distribution of children with obesity]		601007	18017	2	2004	 The above findings indicated there were polymorphisms in the children with obesity, and those polymorphisms might remarkably affect their lipid metabolism and fat distribution.	Control:60 healthy children;Case:72 obese children										
140741	Y	obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Ross, J. A.  et al. 2004	15337805				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Journal of clinical oncology. 2004 Sep;22(17):3558-62	Genetic variation in the leptin receptor gene and obesity in survivors of childhood acute lymphoblastic leukemia: a report from the childhoodcancer survivor study		601007	18018	2	2004	LEPR polymorphism may influence obesity in female survivors of childhood ALL, particularly those exposed to cranial radiation. Because obesity is associated with increased morbidity and mortality in later life, identification of children at high risk might allow for early targeted interventions.	Cohort 600 non-Hispanic white adult acute lymphoblastic leukemia survivors enrolled onto the Childhood Cancer Survivor Study 										
140742	Y	diabetes, type 2; weight loss; weight gain	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Body Weight	1	1p31	LEPR	65658905	65875410		Salopuro, T.  et al. 2005	15997246				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			International journal of obesity (2005). 2005 Oct;29(10):1245-51	Genetic variation in leptin receptor gene is associated with type 2 diabetes and body weight:The Finnish Diabetes Prevention Study.		601007	18019	2	2005	 Two polymorphisms (Lys109Arg, Gln223Arg) in the extracellular domain of the leptin receptor predicted the conversion to type 2 diabetes in high-risk individuals with IGT. The Del/Ins polymorphism in the 3'UTR of LEPR was associated with body weight.		diet physical activity									
140743		obesity; metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Obesity, Morbid|Weight Loss|Bulimia	1	1p31	LEPR	65658905	65875410		Potoczna, N.  et al. 2004	15585384				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Journal of gastrointestinal surgery. 2004 Dec;8(8):971-81; discussion 981-2	Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity.		601007	18971	2	2004	MC4R variants influence comorbidities and treatment outcomes in severe obesity.	Cohort 300 patients (233 women and 67 men; mean +/- SEM age, 42 +/- 1 years; mean +/- SEM body mass index, 43.5 +/- 0.3 kg/m(2)) undergoing laparoscopic gastric banding 										
140744		body mass; diabetes, type 2; hypertension; albuminuria; glycohemoglobin A1	METABOLIC	MET	Cerebrovascular Disorders|Albuminuria|Coronary Disease|Hypertension|Peripheral Vascular Diseases|Diabetes Mellitus, Type 2	1	1p31	LEPR	65658905	65875410		Santaniemi, M.  et al. 2004	15189365				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Journal of internal medicine. 2004 Jul;256(1):48-55	Tyrosine phosphatase 1B and leptin receptor genes and their interaction in type 2 diabetes.		601007	19161	2	2004	 We conclude that the PTP1B IVS6 + G82A polymorphism was associated with BMI, albuminuria, GHBA1 and hypertension in type 2 diabetic patients. The 981T/T-genotype of the Pro303Pro- polymorphism might have some protective role against the development of type 2 diabetes. The interaction effects between the PTP1B IVS6 + A82A and LepR Arg223Arg genotypes influenced BMI, explaining 3% of its variation. A synergistic effect of PTP1B and LepR variants on the leptin signalling may be involved.	Case:257 Finnish patients with type 2 diabetes;Control:285 nondiabetic subjects		PTP1B		LepR				Y		type 2 diabetes
140745	Y	weight gain	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain	1	1p31	LEPR	65658905	65875410		van Rossum, C. T.  et al. 2002	12075579				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Dutch	Netherlands	CDC GDPinfo	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):517-28	Genetic factors as predictors of weight gain in young adult Dutch men and women.		601007	22744	2	2002	 Only variations in the ADRB2 gene and LEPR gene, may contribute to susceptibility to weight gain. None of the other studied genetic markers were clearly associated with weight gain. Further research is necessary to establish the role of lifestyle factors, or interactions between genes or between genes and lifestyle factors on weight gain with age.	Case:286 subjects aged 20-40 y who gained an average of 12.8 kg (range 5.5-47 kg) during a mean follow-up of 6.8 y from two large cohorts in The Netherlands;Control:296 subjects who remained relatively constant over the same period										
140746	Y	bone density	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	1	1p31	LEPR	65658905	65875410		Tahara, M.  et al. 2005	15834329				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Spine. 2005 Apr;30(8):877-80; discussion 881	The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms.		601007	22745	2	2005	 The present results suggest that the IVS20-11delT variant of the NPPS gene and the A861G variant of the leptin receptor gene are associated with more extensive OPLL, but not with the frequency with which it occurs.	Case:172 ossification of posterior longitudinal ligament of the spine patients;Control:93 non-ossification of posterior longitudinal ligament of the spine controls										
140748		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p31	LEPR	65658905	65875410		Skibola, C. F.  et al. 2004	15159310				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3		California	CDC GDPinfo	3953	Hs.23581			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):779-86	Body Mass Index, Leptin and Leptin Receptor Polymorphisms, and Non-Hodgkin Lymphoma		601007	22747	2	2004	These results suggest that genetic interactions between leptin and its receptor may promote immune dysfunction associated with obesity and NHL and that the emerging obesity epidemic is consistent with the increasing incidence of NHL in developed countries.	Case:376 non-Hodgkin's lymphoma and two major subtypes (diffuse large cell and follicular lymphoma) cases;Control:805:controls										
140749	Y	insulin	METABOLIC	MET	Insulin Resistance	1	1p31	LEPR	65658905	65875410		Lakka, T. A.  et al. 2004	15161768				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Diabetes. 2004 Jun;53(6):1603-8	Leptin and Leptin Receptor Gene Polymorphisms and Changes in Glucose Homeostasis in Response to Regular Exercise in Nondiabetic Individuals: TheHERITAGE Family Study		601007	22748	2	2004	Variations in the LEP and LEPR genes are associated with the magnitude of the effects of regular exercise on glucose homeostasis in nondiabetic individuals.	Cohort 397/143 nondiabetic whites (n = 397) and blacks (n = 143) 	physical activity									
140750		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1p31	LEPR	65658905	65875410		Muy-Rivera, M.  et al. 2004	15544427				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Physiological research. 2005 ;54(2):167-74	Leptin, soluble leptin receptor and leptin gene polymorphism in relation to preeclampsia risk.		601007	22749	2	2004	Larger studies would be needed to confirm and further clarify the relations between functional variants in the leptin gene and preeclampsia risk.	Control:39:controls;Case:40 preeclamsia cases										
140751		metabolic rate; respiratory quotient	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Loos, R. J.  et al. 2005	16231024				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			International journal of obesity (2005). 2006 Jan;30(1):183-90	Polymorphisms in the leptin and leptin receptor genes in relation to resting metabolic rate and respiratory quotient in the Qu????bec Family Study.		601007	22750	2	2005	 These findings suggest that DNA sequence variation in the LEPR gene contributes to human variation in RMR and in the relative rates of substrate oxidation during low-intensity exercise in steady state but not in a resting state.											
140752	Y	obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Mattevi, V. S.  et al. 2002	12187394				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Caucasian	Brazil	CDC GDPinfo	3953	Hs.23581			International journal of obesity and related metabolic disorders. 2002 Sep;26(9):1179-85	Association analysis of genes involved in the leptin-signaling pathway with obesity in Brazil		601007	22751	2	2002	 Our findings suggest that genetic variability in the leptin receptor and neuropeptide Y genes is implicated in body weight regulation, the LEPR Gln223Arg variant being associated with a BMI increase in this Caucasian population, especially in non-smokers, while the NPY Leu7Pro polymorphism was associated with BMI reduction in premenopausal women.	Cohort 183/153 women (n=183) and men (n=153) 	smoking (tobacco)									
140753		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	1	1p31	LEPR	65658905	65875410		Paracchini, V.  et al. 2005	15972940				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			American journal of epidemiology. 2005 Jul;162(2):101-14	Genetics of leptin and obesity: a HuGE review.		601007	22752	2	2005												
140754		lymphoma; obesity, localized	CANCER	CAN	Lymphoma, Non-Hodgkin|Obesity	1	1p31	LEPR	65658905	65875410		Willett, E. V.  et al. 2005	16160698				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			British journal of cancer. 2005 Oct;93(7):811-6	Non-Hodgkin's lymphoma, obesity and energy homeostasis polymorphisms.		601007	25179	2	2005												
140755		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p31	LEPR	65658905	65875410		Comings, D. E.  et al. 2003	12712467				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			Cancer. 2003 May;97(9):2160-70	A multigene test for the risk of sporadic breast carcinoma.		601007	27534	2	2003	 These results demonstrate a potentially powerful method of evaluating the additive effect of multiple breast carcinoma risk genes to form a potentially clinically useful assessment of women's risk for sporadic breast carcinoma.	Control:145 gender and race-matched controls;Case:67 women with postmenopausal sporadic breast carcinoma										
140756		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	1	1p31	LEPR	65658905	65875410		Watanabe, I.  et al. 2003	12732844				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Japanese	Japan	CDC GDPinfo	3953	Hs.23581			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		601007	28601	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
140757		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV		22	22q12.2	LIF	28966442	28972748		Ishida, R.  et al. 2001	11587067				Hypothetical protein MGC20647	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002309.2			CDC GDPinfo	3976	Hs.2250			Journal of human genetics. 2001 ;46(10):557-9	Linkage disequilibrium and haplotype analysis among four novel single-nucleotide polymorphisms in the human leukemia inhibitory factor (LIF) gene		159540	12170	2	2001	These results may prove to be useful as genetic markers for population-based disease-association studies in osteoporosis.	not specified Japan 										
140759		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	3	3q21-q23	LTF	46452499	46501728		Lee, E. Y.  et al. 2001	11748357				Lactotransferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002343.2			CDC GDPinfo	4057	Hs.529517			Journal of Korean medical science. 2001 Dec;16(6):751-5	Is tumor necrosis factor genotype (TNFA2/TNFA2)a genetic prognostic factor of an unfavorable outcome in IgA nephropathy?		150210	19895	2	2001	Clinical factors such as serum creatinine, systolic and diastolic blood pressure were higher and pathologic factor such as Grade IV or V renal lesions was more prevalent in the progressor than in the non-progressor group. Therefore, TNFA2/TNFA2 genotype may be a risk factor for the progression of IgAN.	Cohort 76 patients with primary IgAn confirmed by renal biopsy 										
140760		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		18	18q21.1	SMAD2	43613463	43711510		Watanabe, Y.  et al. 2002	12202987	106 single-nucleotide polymorphisms			SMAD, mothers against DPP homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005901			CDC GDPinfo	4087	Hs.12253			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		601366	13991	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
140761		bone density	METABOLIC	MET	Osteoporosis	18	18q21.1	SMAD2	43613463	43711510		Mizuguchi, T.  et al. 2004	14727154				SMAD, mothers against DPP homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005901		Japan	CDC GDPinfo	4087	Hs.12253			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		601366	27223	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
140762		colorectal cancer; Tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate	CANCER	CAN		15	15q22.33	SMAD3	65145248	65274587		Watanabe, Y.  et al. 2002	12202987				SMAD, mothers against DPP homolog 3 (Drosophila)				CDC GDPinfo	4088	Hs.36915			Journal of human genetics. 2002 ;47(9):478-83	A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.		603109	23506	2	2002	Our data will provide a useful resource for the study of disease susceptibility.	Cohort 48 Japanese individuals 										
140763		bone density	METABOLIC	MET	Osteoporosis	15	15q22.33	SMAD3	65145248	65274587		Mizuguchi, T.  et al. 2004	14727154				SMAD, mothers against DPP homolog 3 (Drosophila)			Japan	CDC GDPinfo	4088	Hs.36915			Journal of human genetics. 2004 ;49(2):80-6	LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density		603109	27621	2	2004	These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis.	Case:126 osteoporotic patients;Control:131 normal controls:Cohort:481 general Japanese women										
140764	Y	primary progressive aphasia	NEUROLOGICAL	NEUR	Aphasia, Primary Progressive	17	17q21.1	MAPT	41327623	41461546	p< 0.00001	Sobrido MJ 2003	12629248	H1/H1 genotype: Exons 9 10 12 and 13 of the MAPT (tau) gene			Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Pts at the Northwestern University AD Center		KGB	4137	Hs.101174			Neurology. 2003 Mar;60(5):862-4			157140	7288	1	2003		Case:14M 11 F; Control:33										
140766		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Pastor P et al. 2000	10665497				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Annals of neurology. 2000 Feb;47(2):242-5	Significant association between the tau gene A0/A0 genotype and Parkinson's disease.		157140	7290	1	2000												
140767	N	progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546	n	Bonifati V et al. 1999	10530520				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Italian	Italy	KGB	4137	Hs.101174			Neuroscience letters. 1999 Oct;274(1):61-5	The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases.		157140	7291	1	1999												
140768	Y	progressive supranuclear palsy	OTHER	OTH	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546		Baker M et al. 1999	10072441				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Human molecular genetics. 1999 Apr;8(4):711-5	Association of an extended haplotype in the tau gene with progressive supranuclear palsy.		157140	7292	1	1999												
140769	Y	frontotemporal dementia and Pick-like 3R and 4R tauopathy	NEUROLOGICAL	NEUR	Dementia|Pick Disease of the Brain|Tauopathies	17	17q21.1	MAPT	41327623	41461546		Hogg M et al 2003	12883828	L266V			Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Acta neuropathologica. 2003 Oct;106(4):323-36	The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.		157140	7293	1	2003												
140771	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Bullido MJ et al. 2000	10643798				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2000 Jan;278(2-Jan):49-52	A polymorphism in the tau gene associated with risk for Alzheimer's disease.		157140	7295	1	2000												
140772		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q21.1	MAPT	41327623	41461546		de Silva R et al. 2002	12231446				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2002 Sep;330(2):201-3	The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease.		157140	7296	1	2002												
140773	Y	Familial atypical progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Amyotrophic Lateral Sclerosis	17	17q21.1	MAPT	41327623	41461546		Pastor P et al. 2001	11220749	delN296	The delN296 mutation lies in the sequence corresponding to the second tubulin-binding repeat of tau protein		Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2		Spain	KGB	4137	Hs.101174			Annals of neurology. 2001 Feb;49(2):263-7	Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.		157140	7297	1	2001												
140774		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Russ C et al. 2001	11698154				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2001 Nov;314(2-Jan):92-6	The microtubule associated protein Tau gene and Alzheimer's disease--an association study and meta-analysis.		157140	7298	1	2001												
140776	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546	n	Baker M et al. 2000	10793248				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2000 May;285(2):147-9	No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease.		157140	7300	1	2000												
140777	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546	n	Kwon JM et al. 2000	10771166				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2000 Apr;284(2-Jan):77-80	Tau polymorphisms are not associated with Alzheimer's disease.		157140	7301	1	2000												
140779	Y	progressive supranuclear palsy	OTHER	OTH	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546		de Silva R et al. 2001	11578815			promoter	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2001 Oct;311(3):145-8	Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy.		157140	7303	1	2001												
140780	N	Pick's disease	OTHER	OTH	Pick Disease of the Brain	17	17q21.1	MAPT	41327623	41461546	n	Russ C et al. 2001	11166961				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 2001 Feb;299(2-Jan):156-8	The extended haplotype of the microtubule associated protein tau gene is not associated with Pick's disease.		157140	7304	1	2001												
140781		frontotemporal dementia	OTHER	OTH	Dementia	17	17q21.1	MAPT	41327623	41461546		Yancopoulou D 2003	14503643				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Journal of neuropathology and experimental neurology. 2003 Aug;62(8):878-82	Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3).		157140	7305	1	2003												
140782		frontotemporal dementia	OTHER	OTH	Dementia|Atrophy	17	17q21.1	MAPT	41327623	41461546		Rosso SM 2003	12975285	P301L and G272V			Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Archives of neurology. 2003 Sep;60(9):1209-13	Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations.		157140	7306	1	2003	 The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.											
140783		Frontotemporal dementia	OTHER	OTH	Dementia|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Rosso SM 2003	12876142	19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F			Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	unknown	Netherlands	KGB	4137	Hs.101174			Brain. 2003 Sep;126(Pt 9):2016-22	Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.		157140	7307	1	2003	We conclude that  the prevalence of FTD in The Netherlands is higher than previously reported, confirming that FTD is more common than was previously thought. The finding of tau mutations in 32% of patients with a positive family history for dementia justifies mutation screening in FTD patients with a positive family history, while tau mutations in non-familiar cases are rare.											
140786	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546	p = 0.003	Levecque C 2004	14966169	H1 haplotype		other	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Terre		KGB	4137	Hs.101174			Journal of neurology, neurosurgery, and psychiatry. 2004 Mar;75(3):478-80	Association of polymorphisms in the Tau and Saitohin genes with Parkinson's disease.		157140	7310	1	2004	 The data suggest that there is a functional polymorphism at this locus involved in Parkinson's disease.	Case:208 Parkinson's disease patients;Control:483:controls										
140788		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Green, E. K.  et al. 2002	11988340			intron	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Neuroscience letters. 2002 May;324(2):113-6	A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain.		157140	12305	2	2002	We conclude that  the frequency of tau gene H1 haplotype is not elevated in AD and possession of this has no impact upon the amount of tau pathology in AD.	Cohort 83 postmortem Alzheimer's disease patients 										
140789	N	Jakob-Creutzfeldt disease	NEUROLOGICAL	NEUR	Prion Diseases|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Sanchez-Valle, R.  et al. 2002	12212558				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Journal of neurology. 2002 Jul;249(7):938-9	Analysis of the exon 1 polymorphism in the Tau gene in transmissible spongiform encephalopathies		157140	12306	2	2002	The results of this study offer no evidence for an association between TSEs and tau gene in the overall data, or when cases were stratified by TSE subtypes. Despinte the lack of evidence for an association of the polymorphism present at the tau gene in TSEs, the possibility remains of testing whether other than the PrP gene could be involved in prion diseases.	Case:23 patients with defined (n=13) or probable (n=10) sproadic Creutzfeldt-Jakob disease;Control:29 Caucasian healthy controls matched with the patients according to age, race and gender, recruited from spouses of the out-clinic										
140790	N	Alzheimer's disease; Huntington's disease; progressive supranuclear palsy; dementia, frontotemporal	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease|Huntington Disease	17	17q21.1	MAPT	41327623	41461546		Panegyres, P. K.  et al. 2002	12220379				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			European journal of neurology. 2002 Sep;9(5):485-9	Polymorphisms in the tau gene in sporadic frontotemporal dementia and other NEUROLOGICALenerative disorders.		157140	12307	2	2002	There were no significant differences in the frequencies of A0/A3 and A0/A1 haplotypes. We have not observed a significant increase in the A0/A0 genotype frequency in sporadic frontotemporal dementia suggesting that this polymorphism is unlikely to be related to the development of this condition. Furthermore, we have observed an increase in the A0/A0 genotype in PSP which did not reach statistical significance, suggesting that there may be population differences in the role of genetic factors in conferring risks to NEUROLOGICALenerative disorders. Our work does not exclude that tau may interact with other genetic factors.	Case:20/48/52/40 patients with progressive supranuclear palsy (n=20), sporadic frontotemporal dementia (n=48), Alzheimer's disease (n=52), Huntington's disease:(n=40));Control:40 normal controls										
140791		dementia	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Sobrido, M. J.  et al. 2003	12756133				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Archives of neurology. 2003 May;60(5):698-702	Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia.		157140	12308	2	2003	 Sequence variations in intronic or regulatory regions of tau may have previously unrecognized consequences leading to tau dysfunction and neurodegeneration.	Cohort patients with familial and sporadic frontotemporal dementia 										
140792		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Zappia, M.  et al. 2003	14600827				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Neurological sciences. 2003 Oct;24(3):223-4	Association of tau gene polymorphism with Parkinson's disease.		157140	12309	2	2003	Our findings suggest a possible involvement of the tau gene in the pathogenesis of PD.	Control:197 normal controls;Case:300 Parkinson's disease patients										
140794	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546		Tanahashi, H.  et al. 2004	15106853				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Japanese		CDC GDPinfo	4137	Hs.101174			Neuroreport. 2004 Jan;15(1):175-9	Association between tau polymorphism and male early-onset Alzheimer's disease		157140	12311	2	2004	A case-control study showed a significant association between possession of the A allele and male Alzheimer's disease with early-onset, suggesting that age and gender modify the risk effect. However, we failed to replicate the reported association between the Saitohin gene located in the tau intron 9 and Japanese Alzheimer's disease.	Control:678:controls;Case:874 Alzheimer's disease patients										
140795		dementia	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Poorkaj, P.  et al. 2001	11255441				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Archives of neurology. 2001 Mar;58(3):383-7	Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia.		157140	18141	2	2001	 We conclude that tau mutations are uncommon in a neurology referral population with non-Alzheimer dementia, even in those with a clinical diagnosis of FTD. However, a positive family history and/or tau pathologic findings increase the likelihood of a tau mutation. There must be other genetic and nongenetic causes of FTD and non-Alzheimer dementia, similar to the etiologic heterogeneity present in Alzheimer disease.	Cohort 101 patients with non-Alzheimer, nonvascular dementia, most thought to have frontotemporal dementia 										
140796		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Maraganore, D. M.  et al. 2001	11706972				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2		United States|Europe	CDC GDPinfo	4137	Hs.101174			Annals of neurology. 2001 Nov;50(5):658-61	Case-Control study of the extended tau gene haplotype in Parkinson's disease.		157140	18142	2	2001	we observed an increased risk of Parkinson's disease for persons with the H1/H1 genotype (odds	Control:196 controls subjects not otherwise specified in:abstract;Case:319 unrelated Parkinson's disease patients										
140797		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Neurodegenerative Diseases	17	17q21.1	MAPT	41327623	41461546		Conrad, C.  et al. 2002	12032355			intron	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Proceedings of the National Academy of Sciences of the United States of America. 2002 May;99(11):7751-6	A polymorphic gene nested within an intron of the tau gene: Implications for Alzheimer's disease		157140	18143	2	2002	The Q7R polymorphism appears to be over-represented in the homozygous state in late onset Alzheimer's disease subjects.											
140798	Y	dementia, frontotemporal	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Verpillat, P.  et al. 2002	12056929				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Archives of neurology. 2002 Jun;59(6):935-9	Association between the extended tau haplotype and frontotemporal dementia.		157140	18144	2	2002	 This study of the largest series of patients with FTD confirms the primary role of tau in FTD and establishes that the H1 haplotype of the tau gene and the E2 allele of APOE interact by an unknown mechanism that increases the risk of FTD.	Case:100 unrelated patients with frontotemporal dementia;Control:79:controls										
140799		dementia	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Binetti, G.  et al. 2003	12565146				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Italian	Italy	CDC GDPinfo	4137	Hs.101174			Neuroscience letters. 2003 Feb;338(1):85-7	Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients.		157140	18145	2	2003	based on our results we could argue the existence of other mutations in regulatory regions in the TAU gene or, on the other hand, other genes might be responsible for the most cases of familial FTD.	Case:38 patients with frontotemporal dementia										
140801	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q21.1	MAPT	41327623	41461546		Skipper, L.  et al. 2004	15297935				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2		Norway	CDC GDPinfo	4137	Hs.101174			American journal of human genetics. 2004 Oct;75(4):669-77	Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease		157140	18147	2	2004	Using a sliding scale of MAPT H1-specific haplotypes--in age/sex-matched PD cases and controls from central Norway--we have refined the disease association to within an ~90-kb interval of the 5' end of the MAPT locus.	Control age/sex mateched controls;Case Parkinson's disease cases central Norway										
140803		dementia, frontotemporal	PSYCH	PSY	Dementia|Tauopathies	17	17q21.1	MAPT	41327623	41461546		Ibach, B.  et al. 2004	15570502				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Psychiatrische Praxis. 2004 Nov;31 Suppl 1:S55-7	[Genetic tau-variants in patients with frontotemporal dementia]		157140	18149	2	2004	 In how far there exists a significant correlation between the newly identified triple polymorphism in the Tau gene and an alternated risk for FTD must be evaluated in a lager population. The proximity of these polymorphisms to the exon-intron border would facilitate functional influences on gene expression patterns. These preliminary results described, above potentially point to further pathogenetic factors in the genesis of FTD.	Case:30 patients with frontotemporal dementia;Control:30 healthy controls										
140804		dementia; ALS/amyotrophic lateral sclerosis	PSYCH	PSY	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Munch, C.  et al. 2005	16005901				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Journal of the neurological sciences. 2005 Sep;236(2-Jan):13-6	Frequency of a tau genotype in amyotrophic lateral sclerosis.		157140	18150	2	2005												
140805		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Mamah, C. E.  et al. 2005	15732111				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Annals of neurology. 2005 Mar;57(3):439-43	Interaction of alpha-synuclein and tau genotypes in Parkinson's disease.		157140	19642	2	2005	These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of alpha-synuclein protein at low concentrations (dose threshold effect).	Control:557 paired controls;Case:557 Parkinson's disease cases										
140806		frontotemporal lobar degeneration	NEUROLOGICAL	NEUR	Dementia|Tauopathies|Syndrome	17	17q21.1	MAPT	41327623	41461546		Short, R. A.  et al. 2002	11939896				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Archives of neurology. 2002 Apr;59(4):611-5	Differences in tau and apolipoprotein e polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes		157140	22825	2	2002	 Clinical subtypes of FTLD have different tau and APOE genotype frequencies, suggesting these genes may influence the clinical presentation. Further studies should be performed to confirm this finding and to see if the pathologic phenotypes are also associated with different tau and APOE genotype frequencies.	Control:193 patients with Alzheimer's disease;Control:338 cognitively normal patients;Case:63 All patients with FTLD with available DNA specimens seen at the Mayo Clinic, Jacksonville, Fla:Florida										
140807		posterior cortical atrophy	UNKNOWN	UNK	Dementia|Neurodegenerative Diseases|Perceptual Disorders|Atrophy	17	17q21.1	MAPT	41327623	41461546		Tang-Wai, D. F.  et al. 2004	15477533				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Neurology. 2004 Oct;63(7):1168-74	Clinical, genetic, and neuropathologic characteristics of posterior cortical atrophy.		157140	22826	2	2004	 PCA is a distinctive dementia syndrome in which the most pronounced pathologic involvement is in the occipitoparietal regions independent of the specific underlying pathology. AD was the most common pathologic cause, but its regional distribution differed from typical AD.	Cohort 40 posterior cortical atrophy cases 										
140808		Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal	NEUROLOGICAL	NEUR	Tourette Syndrome|Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546		Ezquerra, M.  et al. 2003	12925374				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Archives of neurology. 2003 Aug;60(8):1149-51	A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease		157140	22827	2	2003	 We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.	Cohort 130 control individuals 										
140809		dementia	PSYCH	PSY	Dementia|Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546		Signorini, S.  et al. 2004	15975068				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Italian	Italy	CDC GDPinfo	4137	Hs.101174			Current Alzheimer research. 2004 Aug;1(3):215-8	Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia.		157140	22828	2	2004												
140810		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546			16315267				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Annals of neurology. 2005 Dec;58(6):829-39	GSK3B polymorphisms alter transcription and splicing in Parkinson's disease		157140	22829	2	2005												
140812		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Neurodegenerative Diseases|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Pastor, P.  et al. 2004	15293277				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2		Spain	CDC GDPinfo	4137	Hs.101174			Annals of neurology. 2004 Aug;56(2):249-58	Novel haplotypes in 17q21 are associated with progressive palsy		157140	25220	2	2004	A specific subhaplotype (H1E'(A)) was present in patients but was not observed in the controls. Furthermore, the haplotype, was rarely present in the disease group suggesting plays a protective role. The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the pathogenic allele exists in a subgroup of PSP patients.	Case progressive supranuclear palsy cases from 2 case-control samples;Control controls from 2 case-control samples										
140813		melanoma	CANCER	CAN	Melanoma|Breast Neoplasms|Skin Neoplasms	8	8q21	NBN	91014739	91066075		Debniak T et al 2003	12883362				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4		Poland	CDC GDPinfo	4683	Hs.492208			Melanoma research. 2003 Aug;13(4):365-70	Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.			18169	2	2003	It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives.	Control:530 consecutive individuals selected at random by family doctors from the dity of Szczecin;Case:80 consecutive patients with histologically confirmed malignant melanoma (n=80) and:Szczecin, Poland										
140814	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q26	MEF2A	97923737	98071524		Krishna Bhagavatula, M. R.  et al. 2004	15496429				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDPinfo	4205	Hs.268675			Human molecular genetics. 2004 Dec;13(24):3181-8	Transcription factor MEF2A mutations in patients with coronary artery disease.		600660	18223	2	2004	These results suggest that CAD/MI can result from a spectrum of MEF2A transcription dysfunctions ranging from loss-of-function to dominant negative suppression and that a significant percent of the CAD/MI population (1.93%) may carry mutations in MEF2A, although further definition of the prevalence of MEF2A mutations is warranted.	Control:191 controls with normal angiograms;Case:207 independent coronary artery disease/myocardial infarction patients										
140815	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	15	15q26	MEF2A	97923737	98071524		Altshuler, D.  et al. 2005	15841171				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDPinfo	4205	Hs.268675			The Journal of clinical investigation. 2005 Apr;115(4):831-3	MEF2A sequence variants and coronary artery disease: a change of heart?		600660	18224	2	2005	These results do not support the hypothesis that mutations in MEF2A are a cause of CAD and/or MI but do illustrate general principles regarding the difficulty of connecting genetic variation to common diseases.	Control:300:controls;Case:300 patients with premature coronary artery disease										
140816	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q26	MEF2A	97923737	98071524		Weng, L.  et al. 2005	15841183				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDPinfo	4205	Hs.268675			The Journal of clinical investigation. 2005 Apr;115(4):1016-20	Lack of MEF2A mutations in coronary artery disease.		600660	18225	2	2005	These studies support that MEF2A mutations are not a common cause of CAD in white people and argue strongly against a role for the MEF2A 21-bp deletion in autosomal dominant CAD.	Control:300 elderly control subjects without coroanry artery:disease;Case:300 patients with premature coronary artery disease										
140817	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	15	15q26	MEF2A	97923737	98071524		Gonzalez, P.  et al. 2005	15958500				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDPinfo	4205	Hs.268675			Journal of medical genetics. 2006 Feb;43(2):167-9	The Pro279Leu variant in the transcription factor MEF2A is associated with myocardial infarction.		600660	18226	2	2005	 The 279Leu allele appears to be a genetic risk factor for CAD/MI in the population studied. This effect could be the result of a reduced transcriptional activity on MEF2A with 279Leu.											
140819		blood pressure, arterial	CARDIOVASCULAR	CARD		15	15q26	MEF2A	97923737	98071524		Li, J. P.  et al. 2004	15043778				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDPinfo	4205	Hs.268675			Chinese medical journal. 2004 Mar;117(3):382-8	The association between paired basic amino acid cleaving enzyme 4 gene haplotype and diastolic blood pressure		600660	22847	2	2004	 This study for the first time demonstrated that PACE4 gene may play an important role in the regulation of DBP. This association indicates that variations influencing DBP resides in or near this genomic region.	Control:125 normal diastolid blood pressure subjects;Case:163 high diastolic blood pressure subjects										
140821	Y	Rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	22	22q11.23	MIF	22566564	22567409	P < 0.02	Baugh JA 2002	12070782	a novel CATT-tetranucleotide repeat polymorphism at position -794 of the human Mif gene. 5. 6. 7. or 8-CATT	the 5-CATT allele has the lowest level of basal and stimulated MIF promoter activity in vitro.	5`promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Caucasian patients		KGB	4282	Hs.407995			Genes and immunity. 2002 May;3(3):170-6			153620	7312	1	2002		Case:184; Control:159										
140823	Y	sarcoidosis	OTHER	OTH	Sarcoidosis|Erythema Nodosum	22	22q11.23	MIF	22566564	22567409		Amoli MM et al. 2002	12180727				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1		Spain	KGB	4282	Hs.407995			The Journal of rheumatology. 2002 Aug;29(8):1671-3	Macrophage migration inhibitory factor gene polymorphism is associated with sarcoidosis in biopsy proven erythema nodosum.		153620	7314	1	2002	 This is the first attempt to assess the influence of MIF genetic polymorphism at position -173 in the development of sarcoidosis. The MIF 173 C allele is associated with a significantly increased risk of developing sarcoidosis in patients with EN.											
140824	Y	Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409	0.0005	Hizawa N 2004	14962818	-173G/C and -794 [CATT]5-8 repeat polymorphisms		5' promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Japanese	Japan	KGB	4282	Hs.407995			American journal of respiratory and critical care medicine. 2004 May;169(9):1014-8	Functional polymorphisms in the promoter region of macrophage migration inhibitory factor and atopy.		153620	7315	1	2004	These results indicate that promoter polymorphisms in the MIF promoter region are risk factors for atopy and implicate MIF in the pathogenesis of atopy in Japanese.	Case Japanese individuals with atopy and asthma;Control:controls										
140825	Y	arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Donn, R. P.  et al. 2001	11508429				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Arthritis and rheumatism. 2001 Aug;44(8):1782-5	A novel 5'-flanking region polymorphism of macrophage migration inhibitory factor is associated with systemic-onset juvenile idiopathic arthritis.		153620	12372	2	2001	 This is the first report of a SNP in the MIF gene. This polymorphism is associated with systemic-onset JIA.	Case:117 Caucasian patients with systemic-onset JIA:Britain;Control:172 unrelated healthy Caucasian controls:Britain										
140826	Y	juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		De Benedetti, F.  et al. 2003	12746913	(-173)			Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Arthritis and rheumatism. 2003 May;48(5):1398-407	Functional and prognostic relevance of the -173 polymorphism of the macrophage migration inhibitory factor gene in systemic-onset juvenile idiopathic arthritis.		153620	12373	2	2003	 Our study shows the functional relevance of the MIF-173 polymorphism and suggests that the MIF-173*C allele is a predictor of poor outcome in systemic-onset JIA.	Cohort 136 patients with systemic-onset JIA were studied, including 98 patients from the British Paediatric Rheumatology Study Group's National Repository for JIA and 38 patients who were followed up at the IRCCS Policlinico San Matteo (Pavia, Italy) UK and Italy 										
140827	Y	polyarthritis	OTHER	OTH	Arthritis|Disease Susceptibility|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Barton, A.  et al. 2003	14551601				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1		Great Britain	CDC GDPinfo	4282	Hs.407995			Genes and immunity. 2003 Oct;4(7):487-91	Macrophage migration inhibitory factor (MIF) gene polymorphism is associated with susceptibility to but not severity of inflammatory polyarthritis		153620	12374	2	2003	The promoter polymorphisms of MIF, investigated in this study, do not influence the severity of disease outcome by 5 years.	Control:343:controls;Case:438 UK Caucasian inflammatory polyarthritis patients:UK										
140828	Y	asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Hizawa, N.  et al. 2004	14962818			promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Japanese	Japan	CDC GDPinfo	4282	Hs.407995			American journal of respiratory and critical care medicine. 2004 May;169(9):1014-8	Functional Polymorphisms in the Promoter Region of Macrophage Migration Inhibitory Factor and Atopy		153620	12375	2	2004	These results indicate that promoter polymorphisms in the MIF promoter region are risk factors for atopy and implicate MIF in the pathogenesis of atopy in Japanese.	Case Japanese individuals with atopy and asthma;Control:controls										
140829	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	22	22q11.23	MIF	22566564	22567409		Nohara, H.  et al. 2004	15065001	(-173)			Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Japanese	Japan	CDC GDPinfo	4282	Hs.407995			Journal of gastroenterology. 2004 ;39(3):242-6	Association of the -173 G/C polymorphism of the macrophage migration inhibitory factor gene with ulcerative colitis.		153620	12376	2	2004	 These data suggest that the MIF -173 G/C polymorphism may be related to the extent of disease in UC in a Japanese population.	Control:438 healthy volunteers;Case:221 ulcerative colitis patients										
140830	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Donn, R. P.  et al. 2004	15304087				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			The Journal of investigative dermatology. 2004 Sep;123(3):484-7	Macrophage migration inhibitory factor gene polymorphism is associated with psoriasis.		153620	12377	2	2004	The results provide evidence for polymorphisms in the MIF gene, and in particular the CATT(7)-MIF-173(*)C haplotype, being of importance in susceptibility to psoriasis.	Case:228 UK caucasian patients with chronic plaque psoriasis;Control:401 UK caucasian normal volunteers										
140831	N	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Vision Disorders|Giant Cell Arteritis|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Amoli, M. M.  et al. 2005	15630728				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Spanish		CDC GDPinfo	4282	Hs.407995			The Journal of rheumatology. 2005 Jan;32(1):74-6	Lack of association between macrophage migration inhibitory factor gene polymorphism and giant cell arteritis.		153620	12378	2	2005	 Polymorphism in MIF gene promoter -173 G/C does not appear to be a genetic risk factor for GCA in Northwest Spain.	Control:122 healthy matched controls;Case:83 patients with giant cell arteritis Lugo region of Northwest Spain										
140832	Y	alopecia areata	IMMUNE	IMM	Alopecia Areata|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Shimizu, T.  et al. 2005	15815686			promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Genes and immunity. 2005 Jun;6(4):285-9	Promoter region polymorphism of macrophage migration inhibitory factor is strong risk factor for young onset of extensive alopecia areata.		153620	12379	2	2005	These results suggest that polymorphisms within the MIF-173(*)C allele confer an increased risk of susceptibility to the extensive forms of AA, especially with an early onset of disease. MIF is therefore suggested to be closely implicated in the pathogenesis of the more extensive forms of AA.	Case:113 alopecia areata patients;Control:194 healthy controls										
140833		kidney failure, chronic; nephrotic syndrome	RENAL	REN	Glomerulosclerosis, Focal Segmental|Nephrosis, Lipoid|Nephrotic Syndrome	22	22q11.23	MIF	22566564	22567409		Berdeli, A.  et al. 2005	16133063	(-173)			Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Pediatric nephrology (Berlin, Germany). 2005 Nov;20(11):1566-71	Association of macrophage migration inhibitory factor -173C allele polymorphism with steroid resistance in children with nephrotic syndrome.		153620	12380	2	2005												
140834		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	22	22q11.23	MIF	22566564	22567409		Berdeli, A.  et al. 2005	16220288				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Turkish		CDC GDPinfo	4282	Hs.407995			Rheumatology international. 2005	Association of macrophage migration inhibitory factor gene -173 G/C polymorphism with prognosis in turkish children with juvenile rheumatoid arthritis.		153620	12381	2	2005												
140836	Y	biliary atresia	METABOLIC	MET	Biliary Atresia|Liver Diseases|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409			16385258	(-173)			Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Journal of pediatric gastroenterology and nutrition. 2006 Jan;42(1):77-82	Positive Association of Macrophage Migration Inhibitory Factor Gene-173G/C Polymorphism with Biliary Atresia		153620	12383	2	2006	 Our results suggest that the -173C allele of the MIF gene might be associated with the susceptibility to BA.											
140837		arthritis, juvenile	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Donn, R.  et al. 2002	12355488				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Arthritis and rheumatism. 2002 Sep;46(9):2402-9	Mutation screening of the macrophage migration inhibitory factor gene: positive association of afunctional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis.		153620	18268	2	2002	 The -173-MIF*C allele confers increased risk of susceptibility to JIA. Our data suggest a cell type-specific regulation of MIF, which may be central to understanding its role in inflammation.	Case:88 UK Caucasian juvenile idiopathic arthritis patients;Control:92 healthy UK Caucasian controls										
140839	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Acute Disease	22	22q11.23	MIF	22566564	22567409		Flex, A.  et al. 2004	15286457				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):261-4	Polymorphisms of the macrophage inhibitory factor and C-reactive protein genes in subjects with Alzheimer's dementia.		153620	22871	2	2004	Although these data need further confirmation, they indicate that CRP and MIF gene polymorphisms are not associated with AD.	Case:116 Italian subjects affected by probable Alzheimer's:disease;Control:184 age- and sex-matched controls										
140840		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Miterski, B.  et al. 2004	15018649				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1		Germany	CDC GDPinfo	4282	Hs.407995			BMC genetics [electronic resource]. 2004 Feb;5:2	Complex genetic predisposition in adult and juvenile rheumatoid arthritis.		153620	26407	2	2004	 The difficulty in investigating the genetics of complex disorders like RA and JRA may arise from genetic heterogeneity in the clinically defined disease cohorts (and generally limited power of such studies). In addition, several to many genes appear to be involved in the genetic predisposition, each of which exerting only small effects. The number of investigated patients has to be increased to establish the possibility of subdivison of the patients according their clinical symptoms, severity of disease, HLA status and other genetic characteristics.	Case:200 unrelated German rheumatoid arthritis and juvenile rheumatoid arthritis patients;Control:300-400 healthy controls										
140841		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	22	22q11.23	MIF	22566564	22567409		Flex, A.  et al. 2004	15308783				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		153620	27093	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
140842		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	22	22q11.23	MIF	22566564	22567409		Forre, O.  et al. 2002	12195624				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		153620	28084	2	2002	Review article											
140843	Y	thrombosis	METABOLIC	MET	Thromboembolism|Genetic Predisposition to Disease			MS				Yates, Z.  et al. 2002	12091127	A2756G			multiple sclerosis				CDC GDPinfo	4397				Haematologica. 2002 Jul;87(7):751-6; discussion 756	Methionine synthase polymorphism A2756G is associated with susceptibility for thromboembolic events and altered B vitamin/thiol metabolism.		126200	12517	2	2002	. A2756G-MS may protect against a thromboembolic event. The role of Hcy remains unclear.	Case:51 individuals who had experienced a thromboembolic:event;Control:95 subjects being treated for non-thromboembolic (NTE) vascular problems										
140844		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease			MS				Beyer, K.  et al. 2003	12876480				multiple sclerosis				CDC GDPinfo	4397				Neuroreport. 2003 Jul;14(10):1391-4	Methionine synthase polymorphism is a risk factor for Alzheimer disease.		126200	12518	2	2003	These findings provide novel evidence implicating genetic enzymatic alterations of homocysteine metabolic pathways in the pathogenesis of AD.	Control:166:controls;Case:172 Alzheimer's disease patients										
140845	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects			MS				De Marco, P.  et al. 2002	12111380				multiple sclerosis		Italian	Italy	CDC GDPinfo	4397				Journal of human genetics. 2002 ;47(6):319-24	Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.		126200	12539	2	2002	This study shows that the MTHFRA1298C polymorphism is a genetic determinant for NTD risk in Italy. No association between the MSA2756G and NTD susceptibility was found.	Control:210 control individuals;Case:98/67 mothers and fathers with NTD affected pregnancies										
140846	N	lymphoma; multiple myeloma	CANCER	CAN	Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular|Multiple Myeloma|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Lincz, L. F.  et al. 2003	12648076				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			British journal of haematology. 2003 Mar;120(6):1051-4	Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin's lymphoma or multiple myeloma.		156570 		12541	2	2003	The MS 2756 AG/GG genotypes were significantly under-represented in NHL (26.2%) vs control subjects (37.2%; P = 0.02), and conferred a 2.4-fold lower risk of follicular (odds ratio =	Case:151/90 Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90);Control:299 control subjects										
140848		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Folic Acid Deficiency|Vitamin B 12 Deficiency|Genetic Predisposition to Disease			MS				Yates, Z.  et al. 2003	12855226				multiple sclerosis				CDC GDPinfo	4397				Molecular genetics and metabolism. 2003 Jul;79(3):201-13	Interaction between common folate polymorphisms and B-vitamin nutritional status modulates homocysteine and risk for a thrombotic event.		126200	12586	2	2003	These results are consistent with accepted paradigms and offer a plausible explanation for the effect and interaction of specific SNPs in the TE phenotype. The biological implications of the limited number of MTHFR/MTHFR mutant alleles that can coexist, u	Cohort 152 individuals who were being treated for either thromboembolic (TE) or non-thromboembolic (non-TE) events 										
140849		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease			MS				Gemmati, D.  et al. 2004	15159311				multiple sclerosis				CDC GDPinfo	4397				Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):787-94	Common Gene Polymorphisms in the Metabolic Folate and Methylation Pathway and the Risk of Acute Lymphoblastic Leukemia and non-Hodgkin's Lymphoma in Adults		126200	12592	2	2004	These data are in accordance with the hypothesis that polymorphisms in the genes for folate and methionine metabolism might play a greater role in the occurrence of ALL than NHL by influencing DNA synthesis and/or DNA methylation.	Case:120/200 adult acute lymphoblastic leukemia (n=120) and non-Hodgkin's lymphoma (n=200) patients;Control:257 healthy control subjects		MTHFR	"677TT, 677CT"	MS	"2756GG, 2756AG"	MTRR	66AG	Y		Acute Lymphoblastic Leukemia
140850		thromboembolism, venous; hyperhomocystinemia	CARDIOVASCULAR	CARD	Thromboembolism|Hyperhomocysteinemia|Genetic Predisposition to Disease			MS				Miriuka, S. G.  et al. 2005	15612980				multiple sclerosis				CDC GDPinfo	4397				Transplant international. 2005 Jan;18(1):29-35	Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients		126200	12594	2	2005	In conclusion, there was a significant difference in the frequency of the G allele genotype of the MTRR A66G in CTX patients versus controls. Differences in cobalamin and folate levels with the MTRR A66G and MS A2756G polymorphisms were noted. Thus, SNP in Hcy-regulating genes may be important determinants of vitamin metabolism in CTX, raising the question of increased vitamin requirements to minimize increased plasma Hcy in this high-risk group.	Control healthy adult controls;Case:84 heart transplant patients										
140851		leukemia, adult acute lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease			MS				Skibola, C. F.  et al. 2002	11986237				multiple sclerosis				CDC GDPinfo	4397				Blood. 2002 May;99(10):3786-91	Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.		126200	14547	2	2002	This study suggests an important role for uracil misincorporation and resultant chromosomal damage in the pathogenesis of ALL, and that genetic interactions involving low penetrance polymorphisms in folate-metabolizing genes may increase ALL risk.											
140852	N	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects|Genetic Predisposition to Disease			MS				Zhu, W.  et al. 2004	15098482				multiple sclerosis				CDC GDPinfo	4397				Wei sheng yan jiu. 2004 Jan;33(1):66-9	[Relations of methionine synthase gene variation with congenital heart disease]		126200	18355	2	2004	 The results indicated that there was not apparent association between MS gene A2756G locus variation with CHD and serum folic acid/vitamin B12 levels. It need further investigations.	Control:103 normal population controls;Case:186 congenital heart disease patients										
140853	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital			MS				Zhu, W. L.  et al. 2004	15205694				multiple sclerosis				CDC GDPinfo	4397				Beijing da xue xue bao Yi xue ban. 2004 Jun;36(3):254-8	[Effects of methionine synthase gene variation in parents on occurence of congenital heart disease in offspring]		126200	18356	2	2004	 The study shows that the MS gene variation at A2756G locus in parents is associated with occurrence of CHD in offspring, and the mutation allele (+) in parents might be related with the decrease of CHD risk in offspring.	Control:104 normal people (60 males and 44 females) and their parents without family history of birth defects;Case:192 congenital heart disease patients (93 males and 99 females) and their biological parents (nuclear:families) Liaoning Province										
140854		homocysteine	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease			MS				Hiraoka, M.  et al. 2004	15044114				multiple sclerosis		Japanese	Japan	CDC GDPinfo	4397				Biochemical and biophysical research communications. 2004 Apr;316(4):1210-6	Gene-nutrient and gene-gene interactions of controlled folate intake by Japanese women		126200	19253	2	2004	The tHcy value was significantly lower in young women with CC or CT of MTHFR than with TT.	Cohort Japanese women 										
140855	N	cerebrovascular disease; coronary artery disease, occlusive	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Coronary Artery Disease|Myocardial Infarction|Arterial Occlusive Diseases|Genetic Predisposition to Disease			MS				Zhang, G.  et al. 2001	11672761				multiple sclerosis		Chinese	China	CDC GDPinfo	4397				Thrombosis research. 2001 Nov;104(3):187-95	Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.		126200	22930	2	2001	Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. However, CBS 844ins68 may be a protective factor against vascular thromboembolic disease. The prevalence of CBS 844ins68 and MS A2756G in Chinese population is obviously lower than in Western Caucasian population.	Control:100 healthy controls;Case:102 patients with ischemic stroke;Case:73 patients with myocardial infarction										
140856		hyperhomocystinemia	METABOLIC	MET	Brain Ischemia|Myocardial Ischemia			MS				Zhang, G.  et al. 2002	12015064				multiple sclerosis				CDC GDPinfo	4397				Zhonghua xue ye xue za zhi. 2002 Mar;23(3):126-9	[Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases]		126200	22931	2	2002	 Hyperhomocysteinemia is an important risk factor for ischemic cerebrovascular and cardiovascular disease. The homozygosity of MTHFR C677T may contribute to the increase of plasma Hcy and vascular damage.	Control:80 healthy controls;Case:86/66 86 patients with cerebral infarction, 66 with myocardial infarction										
140857		lung cancer; breast cancer; colorectal cancer	CANCER	CAN	Neoplasms|Adenocarcinoma|Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease			MS				Paz, M. F.  et al. 2002	12154064				multiple sclerosis				CDC GDPinfo	4397				Cancer research. 2002 Aug;62(15):4519-24	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.		126200	22932	2	2002	The existence of these associations may provide another example of the interplay between genetic and epigenetic factors in the cancer cell.	Cohort 233 cancer patients 										
140859	N	Vascular Disease	CARDIOVASCULAR	CARD	Vascular Diseases	1	1p36.3	MTHFR	11768373	11788702	n	Hessner MJ 2001	11568114	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		TJB	4524	Hs.214142			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		607093	7316	1	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors										
140860	Y	Abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	<0.0001	Strauss E 2003	12590185	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KEW	4524	Hs.214142			Journal of applied genetics. 2003 ;44(1):85-93			607093	7317	1	2003		Case:63; Control:75										
140861		homocysteine	METABOLIC	MET	Kidney Diseases|Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Ueland PM 2001	11282420	C677T	The enzyme methylenetetrahydrofolate reductase (MTHFR) directs folate species either to DNA synthesis or to homocysteine (Hcy) remethylation. The common MTHFR C677T polymorphism affects the activity of the enzyme and hence folate distribution.	coding sequence	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			TJB	4524	Hs.214142			Trends in pharmacological sciences. 2001 Apr;22(4):195-201	Biological and clinical implications of the MTHFR C677T polymorphism.		607093	7318	1	2001												
140862	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Bone	1	1p36.3	MTHFR	11768373	11788702	<0.05	Abrahamsen B 2003	12674333			coding sequence	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	postmenopausal Danish women	Denmark	KEW	4524	Hs.214142	low bone mineral density and fractures		Journal of bone and mineral research. 2003 Apr;18(4):723-9			607093	7319	1	2003		Case:1748										
140863	Y	venous thrombosis	CARDIOVASCULAR	CARD	Thrombophlebitis	1	1p36.3	MTHFR	11768373	11788702		Margaglione M et al. 1998	9609218				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Thrombosis and haemostasis. 1998 May;79(5):907-11	The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutation.		607093	7320	1	1998												
140864	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Sun J et al. 2001	11718053				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		KGB	4524	Hs.214142			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Aug;40(8):529-32	The association of methylenetetrahydrofolate reductase gene polymorphism with nephropathy in type 2 diabetes mellitus in Chinese		607093	7321	1	2001	 MTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may represent a genetic risk factor for diabetic nephropathy in Chinese type 2 diabetes mellitus.											
140865	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702	p>0.05	Gonzalez-Herrera L et al. 2002	12431255			coding sequence	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	State of Yucatan Mexico	Mexico	KGB	4524	Hs.214142			Clinical genetics. 2002 Nov;62(5):394-8	Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan Mexico.		607093	7322	1	2002		Case:65 NTD subjects + 60 of their mothers; Control:110										
140866	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Boduroglu K et al. 1999	10190266				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Turkey	KGB	4524	Hs.214142			Journal of child neurology. 1999 Mar;14(3):159-61	Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects.		607093	7323	1	1999												
140867	Y	neural tube defects and preeclampsia	DEVELOPMENTAL	DEV	Neural Tube Defects|Pre-Eclampsia	1	1p36.3	MTHFR	11768373	11788702		Li K et al. 2000	10751524				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Zhonghua yi xue yi chuan xue za zhi. 2000 Apr;17(2):76-8	The common C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with neural tube defects and preeclampsia		607093	7324	1	2000	 The authors believe that MTHFR VV genotype is associated with the development of NTDs and preeclampsia.											
140868	N	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Constriction, Pathologic	1	1p36.3	MTHFR	11768373	11788702	n	Anderson JL et al. 1997	9350916				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Journal of the American College of Cardiology. 1997 Nov;30(5):1206-11	A mutation in the methylenetetrahydrofolate reductase gene is not associated with increased risk for coronary artery disease or myocardial infarction.		607093	7325	1	1997	 Patients with angiographic evidence of CAD or clinical MI do not show an increased frequency of the C677T transition in the MTHFR gene. Our findings do not support this polymorphism as a risk factor for CAD or MI in a predominantly white, well nourished population of unrestricted age.											
140869		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Dilley A et al. 2001	11457468	(MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919 CBS T-->c833)			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	African Americans	Georgia	KGB	4524	Hs.214142			Thrombosis research. 2001 Jul;103(2):109-15	Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919 CBS T-->c833) are not associated with myocardial infarction in African Americans.		607093	7326	1	2001												
140871	Y	reduced risk of osteoporotic fractures case control study	OTHER	OTH	Osteoporosis, Postmenopausal|Forearm Injuries|Hip Fractures|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Jorgensen HL et al. 2002	12232679				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Denmark	KGB	4524	Hs.214142			Calcified tissue international. 2002 Nov;71(5):386-92	Association of a common allelic polymorphism (C677T) in the methylene tetrahydrofolate reductase gene with a reduced risk of osteoporotic fractures. A case control study in Danish postmenopausal women.		607093	7328	1	2002												
140872	Y	plasma homocysteine levels	METABOLIC	MET	Arteriosclerosis	1	1p36.3	MTHFR	11768373	11788702		Moriyama Y et al. 2002	12204804				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Atherosclerosis. 2002 Oct;164(2):321-8	Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese.		607093	7329	1	2002												
140874	Y	migraine risk	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Kara I et al. 2003	12654508				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Turkey	KGB	4524	Hs.214142			Brain research  Molecular brain research. 2003 Mar;111(2-Jan):84-90	Association of the C677T and A1298C polymorphisms in the 5 10 methylenetetrahydrofolate reductase gene in patients with migraine risk.		607093	7331	1	2003												
140875	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1p36.3	MTHFR	11768373	11788702		Reinhardt D et al. 1998	9502183				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Germany	KGB	4524	Hs.214142			European journal of clinical investigation. 1998 Jan;28(1):20-3	Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and the risk of coronary artery disease.		607093	7332	1	1998	 Our data show that homozygosity for the C677-->T mutation in this European population is not associated with increased risk of coronary artery disease. This finding suggests that the C677-->T mutation of the MTHFR gene does not represent a marker for increased cardiovascular risk.											
140876	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702	n	Hsu LA et al. 2001	11096270				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China|Taiwan	KGB	4524	Hs.214142			Human heredity. 2001 ;51(2-Jan):41-5	The C677T mutation of the methylenetetrahydrofolate reductase gene is not associated with the risk of coronary artery disease or venous thrombosis among Chinese in Taiwan.		607093	7333	1	2001	 Our data suggest that there is no association between the C677T mutation of the human MTHFR gene and the risk of CAD or VT among Chinese in Taiwan.											
140877	N	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia	1	1p36.3	MTHFR	11768373	11788702	n	Gonzalez-Perez E et al. 2002	12220440				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Spanish	Spain	KGB	4524	Hs.214142			Clinical genetics. 2002 Sep;62(3):235-9	Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family-based association study in a Spanish population.		607093	7334	1	2002												
140878	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	n	Brunelli T et al. 2001	11711225				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Neuroscience letters. 2001 Nov;315(2-Jan):103-5	The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease.		607093	7335	1	2001												
140879	Y	mild hyperhomocysteinaemia	OTHER	OTH	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Scholtz CL et al. 2002	12146133				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	South African	South Africa	KGB	4524	Hs.214142			South African medical journal. 2002 Jun;92(6):464-7	Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.		607093	7336	1	2002	 Since hyperhomocysteinaemia is a risk factor for premature CVD, the heterogeneous distribution of the 677C-->T and 1298A-->C mutations across ethnic groups may partly explain ethnic differences in heart disease risk through decreased enzyme activity and hence increased homocysteine levels.											
140880	Y	risk of cervical dysplasia	OTHER	OTH	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Precancerous Conditions|Folic Acid Deficiency	1	1p36.3	MTHFR	11768373	11788702		Goodman MT et al. 2001	11751445				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2001 Dec;10(12):1275-80	Association of methylenetetrahydrofolate reductase polymorphism C677T and dietary folate with the risk of cervical dysplasia.		607093	7337	1	2001												
140881	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases	1	1p36.3	MTHFR	11768373	11788702		Kawamoto R et al. 2001	11558898				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Journal of human genetics. 2001 ;46(9):506-10	An association of 5 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis.		607093	7338	1	2001												
140882		venous thrombophilia	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Lin JS et al. 2000	10680639				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	Taiwan	KGB	4524	Hs.214142			Thrombosis research. 2000 Feb;97(3):89-94	The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese.		607093	7339	1	2000												
140883	Y	abruptio placentae	REPRODUCTION	REP	Fetal Growth Retardation|Abruptio Placentae|Vascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Gebhardt GS et al. 2001	11451544				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			European journal of obstetrics, gynecology, and reproductive biology. 2001 Aug;97(2):174-7	Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction.		607093	7340	1	2001	 Combined heterozygosity for MTHFR mutations C677T and A1298C may represent a genetic marker for abruptio placentae.											
140884		plasma total homocysteine and folate concentrations	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Friedman G et al. 1999	10460200				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			The Journal of nutrition. 1999 Sep;129(9):1656-61	A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations.		607093	7341	1	1999												
140885	Y	folate pool	CANCER	CAN	Gastrointestinal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Kawakami K et al. 2001	11299748				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Anticancer research. 2001 Jan-Feb;21(1A):285-9	Methylenetetrahydrofolate reductase polymorphism is associated with folate pool in gastrointestinal cancer tissue.		607093	7342	1	2001												
140886		cobalamin deficiency	OTHER	OTH	Central Nervous System Diseases|Anemia, Pernicious|Vitamin B 12 Deficiency	1	1p36.3	MTHFR	11768373	11788702		Carmel R et al. 2003	12614229				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			British journal of haematology. 2003 Mar;120(5):907-9	Gene polymorphisms associated with diminished activity of 5 10-methylenetetrahydrofolate reductase do not explain the clinical manifestations of cobalamin deficiency.		607093	7343	1	2003												
140887	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gardemann A et al. 1999	10337543				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			European heart journal. 1999 Apr;20(8):584-92	The TT genotype of the methylenetetrahydrofolate reductase C677T gene polymorphism is associated with the extent of coronary atherosclerosis in patients at high risk for coronary artery disease.		607093	7344	1	1999	 The present study extends previous observations by the finding that carriers of the N5,N10-methylenetetrahydrofolate reductase C677T TT genotype with various coronary high risk profiles had clearly higher coronary heart disease scores than individuals with at least one C677T C allele.											
140888	Y	lung cancer	CANCER	CAN	Lung Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Kamiya H et al. 1998	9625844				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Oncology reports. 1998 Jul-Aug;5(4):911-4	A methylenetetrahydrofolate reductase polymorphism is associated with expression of p16 in human lung cancer.		607093	7345	1	1998												
140889	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Carotid Artery Diseases|Arteriosclerosis	1	1p36.3	MTHFR	11768373	11788702		Spence JD et al. 1999	10229729				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Stroke; a journal of cerebral circulation. 1999 May;30(5):969-73	Plasma homocyst(e)ine concentration but not MTHFR genotype is associated with variation in carotid plaque area.		607093	7346	1	1999												
140890	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Bluthner M et al. 1999	10052477				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Nephrology, dialysis, transplantation. 1999 Jan;14(1):56-7	Association of methylenetetrahydrofolate reductase gene polymorphism and diabetic nephropathy in type 2 diabetes?		607093	7347	1	1999												
140891	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36.3	MTHFR	11768373	11788702	n	Virgos C et al. 1999	10424670	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Neuroreport. 1999 Jul;10(10):2035-8	Plasma homocysteine and the methylenetetrahydrofolate reductase C677T gene variant: lack of association with schizophrenia.		607093	7348	1	1999												
140892	N	proliferative diabetic retinopathy.	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702	n	Fujita H et al. 1999	10765003				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Journal of diabetes and its complications. 1999 Sep-Dec;13(6-May):284-7	No association between MTHFR gene polymorphism and diabetic nephropathy in Japanese type II diabetic patients with proliferative diabetic retinopathy.		607093	7349	1	1999	We conclude that  the MTHFR gene polymorphism is not associated with the development of diabetic nephropathy in Japanese type II diabetic patients.											
140893	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Hypertension	1	1p36.3	MTHFR	11768373	11788702	n	Kobashi G et al. 2000	10869114				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			American journal of medical genetics. 2000 Jul;93(2):122-5	Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women.		607093	7350	1	2000												
140894	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36.3	MTHFR	11768373	11788702		Wei J et al. 1999	10208443				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Molecular psychiatry. 1999 Mar;4(2):115-6	Allelic association of the MTHFR gene with schizophrenia.		607093	7351	1	1999												
140895	Y	acute leukemia	CANCER	CAN	Leukemia|Acute Disease	1	1p36.3	MTHFR	11768373	11788702		Skibola CF et al. 1999	10536004				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Proceedings of the National Academy of Sciences of the United States of America. 1999 Oct;96(22):12810-5	Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.		607093	7352	1	1999												
140896	Y	hyperhomocysteinemia and cardiovascular disease	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Cardiovascular Diseases|Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Haviv YS et al. 2002	12187094				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Nephron. 2002 Sep;92(1):120-6	The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients.		607093	7353	1	2002	 Hyperhomocysteinemia, serum folate levels and both C677T and A1298C MTHFR mutations are associated with CVD in HD patients.											
140897	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p36.3	MTHFR	11768373	11788702		Joober R et al. 2000	10889537				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Molecular psychiatry. 2000 May;5(3):323-6	Association between the methylenetetrahydrofolate reductase 677C-->T missense mutation and schizophrenia.		607093	7354	1	2000												
140898		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1p36.3	MTHFR	11768373	11788702		Fernandez-Arcas N et al. 1999	10488956	A225V			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Atherosclerosis. 1999 Aug;145(2):293-300	The genotype interactions of methylenetetrahydrofolate reductase and renin-angiotensin system genes are associated with myocardial infarction.		607093	7355	1	1999												
140900		cardiovascular risk factors	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Guillen M et al. 2001	11680544				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Spanish	Spain	KGB	4524	Hs.214142			European journal of epidemiology. 2001 ;17(3):255-61	Prevalence of the methylenetetrahydrofolate reductase 677C > T mutation in the Mediterranean Spanish population. Association with cardiovascular risk factors.		607093	7357	1	2001												
140901		arterial and venous thrombosis	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Coronary Disease|Thrombosis|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Zheng YZ et al. 2000	10929044				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	KGB	4524	Hs.214142			British journal of haematology. 2000 Jun;109(4):870-4	Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population.		607093	7358	1	2000												
140902	N	venous thromboembolism	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	n	Zalavras ChG et al. 2002	12384649	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Greece	KGB	4524	Hs.214142			International angiology. 2002 Sep;21(3):268-71	Lack of association between the C677T mutation in the 5 10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece.		607093	7359	1	2002	 Homozygosity for the T677 allele of the MTHFR gene, although slightly more prevalent in patients compared to controls, has not been found in association with venous thromboembolism.	Case:176; Control:300										
140903	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Shpichinetsky V et al. 2000	11015479	C677T and A1298C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142	Type 2 diabetes		The Journal of nutrition. 2000 Oct;130(10):2493-7	The association between two common mutations C677T and A1298C in human methylenetetrahydrofolate reductase gene and the risk for diabetic nephropathy in type II diabetic patients.		607093	7360	1	2000												
140904	N	diabetes mellitus	METABOLIC	MET	Carotid Stenosis|Arteriosclerosis|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702	n	Mazza A et al. 2000	10877195				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Italy	KGB	4524	Hs.214142			Metabolism:  clinical and experimental. 2000 Jun;49(6):718-23	Lack of association between carotid intima-media thickness and methylenetetrahydrofolate reductase gene polymorphism or serum homocysteine in non-insulin-dependent diabetes mellitus.		607093	7361	1	2000												
140905		deep vein thrombophilia	OTHER	OTH	Venous Thrombosis|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Guo C et al. 2002	12170465				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	KGB	4524	Hs.214142			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):295-7	The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans		607093	7362	1	2002	 The C677T mutation of methylenetetrahydrofolate reductase gene is a risk factor associated with deep vein thrombophilia in Shandong Hans.											
140906	Y	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Diabetic Angiopathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Arai K et al. 1997	9392503				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Diabetes. 1997 Dec;46(12):2102-4	Association of methylenetetrahydrofolate reductase gene polymorphism with carotid arterial wall thickening and myocardial infarction risk in NIDDM.		607093	7363	1	1997												
140907	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702	n	Stegmann K et al. 1999	10528242	677C/T-1298A/C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	German	Germany	KGB	4524	Hs.214142			American journal of medical genetics. 1999 Nov;87(1):23-9	Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD).		607093	7364	1	1999												
140908	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702	n	Odawara M et al. 1999	10780391				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Nucleic acids symposium series. 1999 ;(42):85-6	MTHFR gene variant is not associated with diabetic nephropathy in Japanese.		607093	7365	1	1999												
140909	Y	late-onset Alzheimer's disease.	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	0.01	Wakutani Y 2004	15123333	Haplotype C (677C-1298C-1793G	Haplotype C is protective	other	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Neurobiology of aging. 2004 Mar;25(3):291-4	A haplotype of the methylenetetrahydrofolate reductase gene is protective against late-onset Alzheimer's disease.		607093	7366	1	2004												
140910	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	n	Hirashiki A 2003	14563588	677C3T (Ala222Val)			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		607093	7367	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
140911		plasma homocysteine level	METABOLIC	MET	Spinal Dysraphism|Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Spotila LD 2003	14585765				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			American journal of epidemiology. 2003 Nov;158(9):871-7	Age dependence of the influence of methylenetetrahydrofolate reductase genotype on plasma homocysteine level.		607093	7368	1	2003												
140913	Y	idiopathic deep venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Berrut G 2003	12951177				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Rev Med Interne. 2003 Sep;24(9):569-76	A common mutation C677T in the 5,10-methyltetrahydrofolate reductase gene is associated to idiopathic deep venous thrombosis ~~~ trans La mutation C677T du gene de la 5~~~10-methyltetrahydrofolate reductase est associee aux thromboses veineuses idiopathiq		607093	7370	1	2003	 These results suggest that homozygous C677T methylenetetrahydrofolate reductase mutation could be considered as a genetic risk factor for venous thrombosis.	Cohort 168 patients with confirmed deep venous thrombosis; 31 with an idiopathic deep venous thrombosis (group A) and 137 with thromboembolic event explained by one or more clinical and/or biological risk factors (group B)										
140914		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Seripa D 2003	12928053				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United States|Italy	KGB	4524	Hs.214142			Neurobiology of aging. 2003 Nov;24(7):933-9	Methylenetetrahydrofolate reductase and angiotensin converting enzyme gene polymorphisms in two genetically and diagnostically distinct cohort of Alzheimer patients.		607093	7371	1	2003												
140915	Y	hemorrhagic and ischemic stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Intracranial Thrombosis|Cerebral Hemorrhage	1	1p36.3	MTHFR	11768373	11788702		Li Z 2003	12907815				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	KGB	4524	Hs.214142			Stroke; a journal of cerebral circulation. 2003 Sep;34(9):2085-90	Elevated plasma homocysteine was associated with hemorrhagic and ischemic stroke, but methylenetetrahydrofolate reductase gene C677T polymorphism was a risk factor for thrombotic stroke: a Multicenter Case-Control Study in China.		607093	7372	1	2003	 The C677T polymorphism of the MTHFR gene was associated with increased risk of cerebral thrombotic stroke in Chinese. Total plasma homocysteine was correlated with both ischemic and hemorrhagic stroke, suggesting potential initiation of homocysteine-lowering therapy in this population.											
140917		diabetic nephropathy.	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Moczulski D 2003	12897091	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Nephrology, dialysis, transplantation. 2003 Aug;18(8):1535-40	Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy.		607093	7374	1	2003	 These findings indicate that the C677T polymorphism is a risk factor for diabetic nephrop-athy in male patients with type 2 diabetes.											
140918	N	normal cognitive ageing	AGING	AGE		1	1p36.3	MTHFR	11768373	11788702	n	Visscher PM 2003	12875914				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Neuroscience letters. 2003 Aug;347(3):175-8	Lack of association between polymorphisms in angiotensin-converting-enzyme and methylenetetrahydrofolate reductase genes and normal cognitive ageing in humans.		607093	7375	1	2003												
140919	Y	smoking	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Hypertension	1	1p36.3	MTHFR	11768373	11788702		Inamoto N 2003	12775885				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	KGB	4524	Hs.214142			Stroke; a journal of cerebral circulation. 2003 Jul;34(7):1628-33	Association of methylenetetrahydrofolate reductase gene polymorphism with carotid atherosclerosis depending on smoking status in a Japanese general population.		607093	7376	1	2003	 Our study suggests that the MTHFR TT genotype is a risk factor for hypertension and carotid stenosis in women. Significant interactions between C677T/MTHFR and smoking on maximum IMT in CCA were observed in women but not in men. Smoking cessation for subjects with the TT genotype is important in the prevention of cerebrovascular disease.											
140920		methylenetetrahydrofolate reductase deficiency	OTHER	OTH	Metabolism, Inborn Errors|Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Tonetti C 2003	12733064				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			European journal of pediatrics. 2003 Jul;162(8-Jul):466-75	Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.		607093	7377	1	2003	 Given the heterogeneity of mutations, no one seems preponderant to predict neurological and/or vascular symptoms.											
140922		diabetes, type 2	METABOLIC	MET	Retinal Artery Occlusion|Hyperhomocysteinemia|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Wirta V 2002	12356186				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142	Complications		Clinical nephrology. 2002 Sep;58(3):171-8	Methylenetetrahydrofolate reductase gene polymorphism, hyperhomocysteinemia and occlusive retinal vascular disease in type 2 diabetic and non-diabetic subjects.		607093	7379	1	2002	 In the present study of recently diagnosed type 2 diabetic and non-diabetic subjects, MTHFR gene polymorphism (C677T mutation) slightly affected the plasma homocysteine level but did not alter the arterio-venous ratio.											
140923	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Yoshioka K 2003	12766148				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142	diabetic retinopathy		Diabetes care. 2003 Jun;26(6):1947-8; author reply 1948	No association between the MTHFR gene polymorphism and diabetic retinopathy in type 2 diabetic patients without overt nephropathy.		607093	7380	1	2003												
140924	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36.3	MTHFR	11768373	11788702		Wakutani Y 2004	14739536				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Dementia and geriatric cognitive disorders. 2004 ;17(3):147-50	The regulatory region polymorphisms of the MTHFR gene are not associated with Alzheimer's disease.		607093	7381	1	2004												
140925		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Sun J 2003	12667409				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		Y Wang	4524	Hs.214142	diabetic retinopathy		Chinese medical journal. 2003 Jan;116(1):145-7	The relationship between MTHFR gene polymorphisms, plasma homocysteine levels and diabetic retinopathy in type 2 diabetes mellitus.		607093	7382	1	2003	 MTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may be considered as a genetic risk factor for diabetic microangiopathy (such as DR) in Chinese patients with type 2 diabetes mellitus.											
140927	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Volzke H 2004	12899665	677 C/T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		607093	7384	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
140928		diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Scaglione L 2002	11851723				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Italian	Italy	Y Wang	4524	Hs.214142			European journal of clinical investigation. 2002 Jan;32(1):24-8	Plasma homocysteine, methylenetetrahydrofolate reductase gene polymorphism and carotid intima-media thickness in Italian type 2 diabetic patients.		607093	7385	1	2002	 In 124 Italian patients with type 2 diabetes mellitus, basal levels of plasma homocysteine, as well as methylenetetrahydrofolate reductase gene polymorphism, did not explain the variability of mean carotid intima-media thickness.											
140929	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	ns	Relton CL 2004	15060097	1298A-->C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	UK	Great Britain	KGB	4524	Hs.214142			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		607093	7386	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:530 individuals from families affected by NTD northern UK;Control:645/602 maternal controls (n=645) and healthy newborn:controls (n=602)										
140931		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Santos KG 2003	12951282				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Brazil|Europe	Y Wang	4524	Hs.214142	diabetic retinopathy		Diabetes research and clinical practice. 2003 Aug;61(2):133-6	Diabetic retinopathy in Euro-Brazilian type 2 diabetic patients: relationship with polymorphisms in the aldose reductase, the plasminogen activator inhibitor-1 and the methylenetetrahydrofolate reductase genes.		607093	7388	1	2003												
140932		Preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1p36.3	MTHFR	11768373	11788702		Pegoraro RJ 2004	15059157				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		South Africa	KGB	4524	Hs.214142			Acta obstetricia et gynecologica Scandinavica. 2004 May;83(5):449-54	Methylenetetrahydrofolate reductase gene polymorphisms in black South Africans and the association with preeclampsia.		607093	7389	1	2004	 The low frequencies of the 677C --> T and 1298A --> C MTHFR variant alleles in black South Africans imply little or no role for these mutations in preeclampsia in this population group. However, significant differences in the 1317T --> C allele in preeclamptics suggest that the MTHFR gene, or a closely associated gene, may still have some role, as yet undefined, in the pathogenesis of preeclampsia.											
140933		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Ksiazek P 2004	14737040	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Medical science monitor. 2004 Feb;10(2):BR47-51	The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus.		607093	7390	1	2004	 Our findings suggest that the C677T mutation in the MTHFR gene predisposes type 2 diabetes patients to the development of diabetic nephropathy. The T allele of this mutation seems to be associated with a faster progression of nephropathy to end-stage renal failure.											
140934		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Maeda M 2003	12547903				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142	diabetic retinopathy		Diabetes care. 2003 Feb;26(2):547-8	MTHFR gene polymorphism as a risk factor for diabetic retinopathy in type 2 diabetic patients without serum creatinine elevation.		607093	7391	1	2003												
140935		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Neugebauer S 1998	9708759				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Japan	Y Wang	4524	Hs.214142	Complications		Lancet. 1998 Aug;352(9126):454	Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy in NIDDM patients.		607093	7392	1	1998												
140936		leukemia	OTHER	OTH	Folic Acid Deficiency	1	1p36.3	MTHFR	11768373	11788702		Krajinovic M 2004	12958073				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	French		KGB	4524	Hs.214142			Blood. 2004 Jan;103(1):252-7	Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia.		607093	7393	1	2004												
140938	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Hefler L 2004	14706682	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		607093	7395	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
140939		thrombotic diseases	OTHER	OTH	Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Herrmann FH 2004	14689519				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Indian	Costa Rica	KGB	4524	Hs.214142			American journal of human biology. 2004 Jan-Feb;16(1):82-6	Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.		607093	7396	1	2004												
140941		protein S deficiency	OTHER	OTH	Venous Thrombosis|Protein S Deficiency|Drug Eruptions|Necrosis	1	1p36.3	MTHFR	11768373	11788702		Byrne JS 2004	14723717				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Clinical and experimental dermatology. 2004 Jan;29(1):35-6	Warfarin skin necrosis associated with protein S deficiency and a mutation in the methylenetetrahydrofolate reductase gene.		607093	7398	1	2004												
140942		diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Hypertension|Hyperhomocysteinemia|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Dzida G 2001	11928564				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142			Pol Arch Med Wewn. 2001 Jul;106(1):543-9	Methylenetetrahydrofolate reductase gene polymorphism in patients with type 2 diabetes , trans Polimorfizm genu reduktazy metylenotetrahydrofolianu u pacjentow z cukrzyca typu 2.		607093	7399	1	2001												
140943		5-fluorouracil sensitivity.	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Gastrointestinal Neoplasms|Head and Neck Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Etienne MC 2004	14735204				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			British journal of cancer. 2004 Jan;90(2):526-34	Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms: relationships with 5-fluorouracil sensitivity.		607093	7400	1	2004												
140944		diabetes, type 2	METABOLIC	MET	Coronary Disease|Hypertension|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Benes P 2001	11386855				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian	Czech Republic	Y Wang	4524	Hs.214142			Molecular genetics and metabolism. 2001 Jun;73(2):188-95	Methylenetetrahydrofolate reductase polymorphism, type II diabetes mellitus, coronary artery disease, and essential hypertension in the Czech population.		607093	7401	1	2001												
140945		systemic lupus erythematosus	IMMUNE	IMM	Epilepsy|Hyperhomocysteinemia|Lupus Erythematosus, Systemic	1	1p36.3	MTHFR	11768373	11788702		Afeltra A 2002	12027572				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142			Seizure. 2002 Jun;11(4):250-4	The 677C --> T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in epileptic patients affected by systemic lupus erythematosus.		607093	7402	1	2002												
140947	Y	preeclampsia; eclampsia	REPRODUCTION	REP	Eclampsia|Pre-Eclampsia	1	1p36.3	MTHFR	11768373	11788702		Perales Davila, J.  et al. 2001	11268732				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Ginecol Obstet Mex. 2001 Jan;69:11-Jun	[Folic acid levels, homocysteine and polymorphism of methylenetetrahydrofolate reductase enzyme (MTHFR) in patients with pre-eclampsia and eclampsia]		607093	12537	2	2001	 According to our study, the frequency of the homozygote state (T/T) of MTHFR and increased blood levels of homocysteine is greater in women suffering from preeclampsia.	Case Women with severe preeclampsia and/or eclampsia;Control Women in the third trimester of a normal pregnancy										
140948	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	1	1p36.3	MTHFR	11768373	11788702		Xu, H.  et al. 1999	12569666	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 1999 Apr;21(2):118-21	[C677T genetic polymorphism of methylenetetrahydrofolate reductase in premature coronary heart disease]		607093	12540	2	1999	 It was suggested that MTHFR gene C677T mutation was a possible risk factor of Chinese premature coronary heart disease.	Control:controls;Case:67 Chinese patients with premature coronary heart:disease										
140949	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702		Gutierrez Revilla, J. I.  et al. 2003	12689549	C677T and A1298C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Spanish	Spain	CDC GDPinfo	4524	Hs.214142			Med Clin (Barc). 2003 Apr;120(12):441-5	[C677T and A1298C MTHFR polymorphisms in the etiology of neural tube defects in Spanish population]		607093	12542	2	2003	 The absence of differences in the two polymorphisms between these groups makes us conclude that there is no association with NTDs in the Spanish population.	Control:159 healthy controls;Case:27 neural tube defect patients, 28 patients's mothers and 23 siblings										
140950	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	1	1p36.3	MTHFR	11768373	11788702		Nitsche, F.  et al. 2003	15022402	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Chile	CDC GDPinfo	4524	Hs.214142			Rev Med Chil. 2003 Dec;131(12):1399-404	[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]		607093	12543	2	2003	 No differences in the C677T polymorphism of the MTHFR were observed between mothers who had a child diagnosed with spina bifida and control mothers.	Control:184 healthy mothers matched by age and with no NTD:offspring;Case:58 blood samples from mothers who had a child diagnosed with spina bifida										
140951		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Mu, L. N.  et al. 2004	15231125				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2004 Jun;25(6):495-8	[A case-control study on the relationship between methyl-tetra-hydrofolic acid reductase 677 gene polymorphism and the risk of stomach cancer]		607093	12544	2	2004	 MTHFR677 AnyT genotype, might increase the risk of stomach cancer development and the genotype might also interact with other environmental risk factors to increase the risk of stomach cancer.	Case cases with stomach cancer;Control:controls	diet Helicobacter pylori salt smoking (tobacco)									
140952	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gao, C. M.  et al. 2004	15231206	1298A-->C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2004 Apr;25(4):341-5	[A case-control study on the polymorphisms of methylenetetrahydrofolate reductase 1298A-->C and susceptibility of esophageal cancer]		607093	12545	2	2004	 Results in the present study suggested that there was a coordinated effect between MTHFR 1298 genotypes and habits of smoking, alcohol drinking and tea consumption in the development of EC.	Case:141 esophageal cancer cases Huaian city of Jiangsu province, China;Control:228 population-based controls	alcohol smoking (tobacco) tea									
140953	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Jiang, Q. T.  et al. 2004	15308044				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2004 Jul;25(7):612-6	[A case-control study on the polymorphisms of methylenetetrahydrofolate reductases, drinking interaction and susceptibility in colorectal cancer]		607093	12546	2	2004	 This study suggested that certain MTHFR C677T and A1298C might be associated with the risk of colorectal cancer development. The interaction between MTHFR 1298AC polymorphisms and ex-drinking might also serve as a risk factor of colorectal cancer.	Case:126 colorectal cancer patients;Control:343 healthy controls	alcohol									
140954	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Qi, J.  et al. 2004	15312365				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	CDC GDPinfo	4524	Hs.214142			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 May;26(5):287-9	[Association between genetic polymorphisms in methylenetetrahydrofolate reductase and risk of breast cancer]		607093	12547	2	2004	 These findings suggest that 677CT polymorphism in MTHFR may be a genetic susceptibility factor for breast cancer among Chinese women.	Case:217 Chinese breast cancer cases;Control:218 matched controls										
140955		HIV; folate; vitamin B12	INFECTION	INF	HIV Infections	1	1p36.3	MTHFR	11768373	11788702		Malavazi, I.  et al. 2004	15765596				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Revista da Sociedade Brasileira de Medicina Tropical. 2004 Nov-Dec;37(6):469-75	[Evaluation of the polymorphisms in methylenetetrahydrofolate reductase gene and the levels of folate and B12 in HIV-infected patients under antiretroviral therapy]		607093	12548	2	2004	No differences in the genotype distribution for methylenetetrahydrofolate reductase polymorphisms between the HIV-infected individuals and the controls were found. HIV-infected individuals carrying the C677C genotype presented lower B12 levels (313.91 +/- 154.05) than those with the same genotype in the control group (408.27 +/- 207.69). Also, the antiretroviral therapy was not a source of variation of the folate and B12 serum levels. Further studies are needed to reanalyze the prevalence of low levels of folate and B12 and hyperhomocysteinemia among HIV-infected patients with regard to the use of HAART and the increased life expectancy of such patients.	Control:29 blood donros;Case:89 HIV-infected individuals										
140956		placental vascular complications	REPRODUCTION	REP		1	1p36.3	MTHFR	11768373	11788702		Xiao, Y.  et al. 2005	15793792				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):219-21	[5, 10-methylenetetrahydrofolate reductase polymorphism in three nationalities of Guizhou in China]		607093	12549	2	2005	 The polymorphisms of the two mononucleotide sites (677 and 1298) of MTHFR are diverse in different populations. The C allele frequencies at the site of MTHFR 1298 of the Miao population in Leishan county and the Buyi population in Libo county are high, and the C allele frequency in the Miao population is higher than those hitherto reported in literature.	Cohort individuals of Han, Buyi and Miao populations Guizhou 										
140957	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Johanning, G. L.  et al. 2000	11186937				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of medical genetics. 2000 Dec;37(12):949-51	Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects.		607093	12574	2	2000	In conclusion, our data support previous studies suggesting that the C677T mutation in MTHFR is associated with increased risk for NTDs. Although a common polymorphism in the MS gene was not a strong risk factor for NTDs, associations between MTHFR and MS polymorphisms slightly increased the risk. Further research is warranted to evaluate comorbidity of MTHFR and MS polymorphisms in a large population.	Case:84 amniotic fluid samples from women with fetuses with confirmed NTDs;Control:84 amniotic fluid samples from women with normal:pregnancies		MTHFR		MS				Y		neural tube defects
140958		lymphoma, malignant	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Matsuo, K.  et al. 2001	11342450				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood. 2001 May;97(10):3205-9	Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma.		607093	12576	2	2001	Unconditional logistic regression analyses revealed a higher susceptibility with the MTHFR677 CC and the MTHFR1298 AA genotypes when those harboring at least one variant allele in either polymorphism of MTHFR were defined as the reference. For the MS polymorphism, the MS2756 GG genotype also showed a higher susceptibility than those with MS2756 AA or AG types. The significance was not altered when these 3 polymorphisms were evaluated in combination, and the results suggest that folate and methionine metabolism play important roles in the occurrence of malignant lymphomas. Further studies to confirm the association and detailed biologic mechanisms are now required.	Control:243 control subjects without cancer;Case:98 patients with histologically confirmed lymphoma										
140959		myocardial infarction; folate; homocysteine	CARDIOVASCULAR	CARD		1	1p36.3	MTHFR	11768373	11788702		Adjalla, C. E.  et al. 2003	12964809	677C-->T and 1298A-->C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2003 Aug;41(8):1028-32	Low frequency of mutated methylenetetrahydrofolate reductase 677C-->T and 1298A-->C genetics single nucleotide polymorphisms (SNPs) in Sub-Saharan populations.		607093	12577	2	2003	In conclusion, the MTHFR 677TTor 1298CC genotypes are much rarer in Africans than in Caucasians. The 677TT low frequency may be related to the high effect of this mutation on homocysteine metabolism in the environmental conditions of this African region.	Cohort 240 subjects recruited in West Africa 										
140960	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Ulvik, A.  et al. 2004	15598777	677C -> T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Norway	CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2175-80	Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-controlpairs from the JANUS cohort.		607093	12580	2	2004	In summary, we found significantly reduced risk of colorectal cancer in subjects with the MTHFR 677 TT and MTR 2756 GG genotypes. No interaction between the polymorphisms, or of either polymorphism with tHcy, was detected.	Case:2,168 colorectal cancer cases from the Norwegian JANUS cohort of 309,000 subjects;Control:2,168 controls from the Norwegian JANUS cohort of 309,000:subjects										
140961	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Yang, C. X.  et al. 2005	15790587	677C -> T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Japan	CDC GDPinfo	4524	Hs.214142			Carcinogenesis. 2005 Jul;26(7):1285-90	Gene-environment interactions between alcohol drinking and the MTHFR C677T polymorphism impact on esophageal cancer risk: results of a case-controlstudy in Japan.		607093	12581	2	2005	Folate consumption and MTHFR 677TT were associated with a non-significant tendency for decreased risk while the MTR genotypes did not show any links in themselves; further, when analysis was limited to heavy drinkers, the MTHFR TT genotype significantly decreased esophageal cancer risk (odds ratio	Case:165 esophageal cancer cases;Control:495 non-cancer controls	alcohol folate smoking (tobacco)									
140962	Y	colorectal cancer	CANCER	CAN		1	1p36.3	MTHFR	11768373	11788702		Matsuo, K.  et al. 2002	12716294	A66G			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese		CDC GDPinfo	4524	Hs.214142			Asian Pacific journal of cancer prevention. 2002 ;3(4):353-359	Methionine Synthase Reductase Gene A66G Polymorphism is Associated with Risk of Colorectal Cancer.		607093	12584	2	2002	In conclusion, the present study showed that the GG genotype of MTRR A66G is a risk factor for colorectal cancer in Japanese, while MTHFR and MTR polymorphisms are not. The conclusions, however, need further evaluation in terms of micronutrient status and additional confirmatory studies are required with datasets for various ethnic groups.	Control:241 non-cancer controls;Case:72/70 Japanese colon (n=72) and rectal (n=70) cancer:cases										
140963		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	1	1p36.3	MTHFR	11768373	11788702		Brilakis, E. S.  et al. 2003	12801615	677C -> T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Atherosclerosis. 2003 Jun;168(2):315-22	Methylenetetrahydrofolate reductase (MTHFR) 677C>T and methionine synthase reductase (MTRR) 66A>G polymorphisms: association with serum homocysteineand angiographic coronary artery disease in the era of flour products fortified with folic acid.		607093	12585	2	2003	There were no differences in mean homocysteine, prevalence of hyperhomocysteinemia and significant CAD between the three genotypes. On multivariate analysis, the MTRR genotypes were not associated with serum homocysteine or with significant CAD.	Cohort 504 patients undergoing clinically-indicated angiography Jul, 1998 - Jan, 1999 										
140964		homocysteine	METABOLIC	MET	Heredodegenerative Disorders, Nervous System|Coronary Artery Disease|DNA Damage	1	1p36.3	MTHFR	11768373	11788702		Botto, N.  et al. 2003	12939653				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Italy	CDC GDPinfo	4524	Hs.214142			European journal of human genetics. 2003 Sep;11(9):671-8	Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage		607093	12588	2	2003	Our results indicate that genetic instability may be associated with increased risk for multiple Hcy-related diseases.	Cohort 68 patients who underwent coronary angiography 										
140966	Y	homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Vaughn, J. D.  et al. 2004	15514263	A66G			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The Journal of nutrition. 2004 Nov;134(11):2985-90	Methionine Synthase Reductase 66A->G Polymorphism Is Associated with Increased Plasma Homocysteine Concentration When Combined with the Homozygous Methylenetetrahydrofolate Reductase 677C->T Variant		607093	12593	2	2004	These data suggest that coexistence of the MTHFR 677 TT genotype with the MTRR 66A-->G polymorphism may exacerbate the effect of the MTHFR variant alone. The potential negative effect of combined polymorphisms of the MTHFR and MTRR genes on plasma homocysteine in at-risk population groups with low folate and/or vitamin B-12 status, such as women of reproductive potential, deserves further investigation.	Cohort 362 women (20-30 y) 		MTHFR		MTRR				Y		Increased plasma homocysteine concentration
140967		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702		O'leary, V. B.  et al. 2005	15979034				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Molecular genetics and metabolism. 2005 Jul;85(3):220-7	Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.		607093	12596	2	2005												
140968	Y	atherosclerosis, coronary; homocysteine	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gueant-Rodriguez, R. M.  et al. 2005	16268464	A66G			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	French		CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2005 Sep;94(3):510-5	Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population.		607093	12599	2	2005												
140969		kidney transplant complications	IMMUNE	IMM	Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			16316363				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Kidney international. 2005 Dec;68(6):2857-62	Effects of single-nucleotide polymorphisms in MTHFR and MTRR on mortality and allograft loss in kidney transplant recipients		607093	12600	2	2005	 This study does not support the routine use of MTHFR or MTRR genotyping for prognostic evaluation or risk-stratification in kidney transplant recipients.											
140970	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Little, J.  et al. 2002	11917217				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United States	CDC GDPinfo	4524	Hs.214142			European journal of cancer prevention. 2002 Feb;11(1):105-10	Colorectal neoplasia and genetic polymorphisms associated with folate metabolism		607093	12641	2	2002	Review article		folate									
140971	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	1	1p36.3	MTHFR	11768373	11788702		Makino, A.  et al. 2004	15214944	C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese		CDC GDPinfo	4524	Hs.214142			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):60-6	No association of C677T methylenetetrahydrofolate reductase and an endothelial nitric oxide synthase polymorphism with recurrent pregnancy loss.		607093	12838	2	2004	 We conclude that the NO concentration but not the polymorphism of MTHFR and eNOS gene and hyperhomocysteinemia are associated with recurrent pregnancy loss in Japanese.	Case:40 Japanese patients suffering fetal loss;Control:76:controls										
140973		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702		De Marco, P.  et al. 2003	12673279	(80A-->G)			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Italian	Italy	CDC GDPinfo	4524	Hs.214142			European journal of human genetics. 2003 Mar;11(3):245-52	Reduced folate carrier polymorphism (80A-->G) and neural tube defects.		607093	13498	2	2003	Altogether, our findings support the hypothesis that RFC-1 A80G variant may contribute to NTD susceptibility in the Italian population.	Control:156 control individuals;Case:174 Italian probands with nonsyndromic NTD, 43 mothers, 53 fathers		MTHFR	1298A-->C	RFC-1	A80G			Y		neural tube defects
140974		osteonecrosis	METABOLIC	MET	Osteonecrosis	1	1p36.3	MTHFR	11768373	11788702		Asano, T.  et al. 2004	14742985				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	CDC GDPinfo	4524	Hs.214142			Transplantation. 2004 Jan;77(2):220-5	Relationship between postrenal transplant osteonecrosis of the femoral head and gene polymorphisms related to the coagulation and fibrinolytic systems in Japanese subjects.		607093	13675	2	2004	 Genotypes of PAI-1 4G/5G and MTHFR C677T or plasma concentrations of PAI-1 Ag and tHcy had no effect on the incidence of ONFH in Japanese subjects, unlike the results of studies performed in white subjects. The effect of genetic background on the pathologic conditions that developed in patients with postrenal transplant ONFH may differ according to race.	Control:106 Japanese patients with postrenal transplant without osteonecrosis of the femoral head;Case:31 Japanese patients with postrenal transplant with osteonecrosis of the femoral head										
140976		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Lim, U.  et al. 2005	16046727				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The Journal of nutrition. 2005 Aug;135(8):1989-94	Polymorphisms in cytoplasmic serine hydroxymethyltransferase and methylenetetrahydrofolate reductase affect the risk of cardiovascular disease in men.		607093	13735	2	2005				MTHFR	677C-->T TT	cSHMT	1420C-->T TT			Y		Cardiovascular disease in men
140977	Y	pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous	1	1p36.3	MTHFR	11768373	11788702		Zetterberg, H.  et al. 2003	12923155				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Human reproduction (Oxford, England). 2003 Sep;18(9):1948-50	Gene-gene interaction between fetal MTHFR 677C>T and transcobalamin 776C>G polymorphisms in human spontaneous abortion		607093	14189	2	2003	 Embryos that have combined MTHFR 677TT and TC 776CG or 776GG genotypes; genotypes that individually are associated with impaired homocysteine metabolism in adults, are at increased risk for spontaneous abortion compared with embryos that have only one of these genotypes.	Control:114 control samples from healthy blood donors;Case:76 fetal tissue samples from spontaneous abortions										
140978	Y	Down syndrome	DEVELOPMENTAL	DEV	Alzheimer Disease|Down Syndrome	1	1p36.3	MTHFR	11768373	11788702		Gueant, J. L.  et al. 2005	15834031				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of neurology, neurosurgery, and psychiatry. 2005 May;76(5):706-9	Homocysteine and related genetic polymorphisms in Down's syndrome IQ.		607093	14191	2	2005	 This study found evidence of an association between t-Hcys and MTHFR 677 T and transcobalamin 776 G alleles with IQ in patients with DS. The association may be related to a defective remethylation of homocysteine, affecting IQ.	Cohort 131 patients with trisomy 21 from a specialist center Sicily, Italy 		MTHFR	677T	transcobalamin	776 G			Y	"homocysteinaemia (t-Hcys), folate, vitamin B(12)"	Down syndrome
140979		homocysteine; vitamin B12; transcobalamin	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		von Castel-Dunwoody, K. M.  et al. 2005	15941899	776C->G			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The American journal of clinical nutrition. 2005 Jun;81(6):1436-41	Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.		607093	14192	2	2005	 These data suggest that the TC 776C-->G polymorphism negatively affects the serum holo-TC concentration and provide additional evidence that vitamin B-12 status modulates the homocysteine concentration in this population.		Vitamin B12									
140980		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gao, C. M.  et al. 2003	12975018				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2003 Jul;24(7):599-603	[Interactions between lifestyle, methylanetetrahydrofolate reductase gene and polymorphisms in thymidylate synthase gene with risk of stomach cancer]		607093	14533	2	2003	 Results in the present study suggested that there was a combined effect between lifestyle, MTHFR C/T or T/T genotype and TS -6 bp/-6 bp genotype in the development of SC.	Case:107 stomach cancer cases Huaian city of Jiangsu province, China;Control:200 population-based controls	alcohol smoking (tobacco) tea	MTHFR	C/T or T/T	TS	-6 bp/-6 bp			Y	lifestyle	stomach cancer
140981	N	homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Brown, K. S.  et al. 2003	14586640				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDPinfo	4524	Hs.214142			Human genetics. 2004 Jan;114(2):182-5	The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.		607093	14554	2	2003	Our findings indicate that the TYMS 3R3R genotype is not a determinant of homocysteine in this sample of healthy young Caucasian adults from Northern Ireland.	Cohort 392 randomly selected healthy young Northwestern European men and women Northern Ireland 								N		
140982		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p36.3	MTHFR	11768373	11788702		Skibola, C. F.  et al. 2004	15198953				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood. 2004 Oct;104(7):2155-62	Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma.		607093	14556	2	2004	The associations of DLCL and FL with TYMS 1494del6 and MTHFR 677TT genotypes, respectively, suggest that folate metabolism may play an important role in the pathogenesis of specific subtypes of NHL.	Control:controls;Case non-Hodgkin lymphoma cases San Francisco Bay Area, US:1988 - 1995										
140983		esophageal cancer; stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gao, C. M.  et al. 2004	15244514				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Asian Pacific journal of cancer prevention. 2004 Apr-Jun;5(2):133-8	Polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase genes and the susceptibility to esophageal and stomach cancer with smoking.		607093	14557	2	2004	The present results suggest that TS polymorphism may modify the risk of esophageal and stomach cancer with smoking, pointing to the necessity for further investigations with information on folate and methionine intake with a larger population.	Case:155/138 stomach cancer (n=155) and esophageal cancer:(n=138) cases;Control:223:controls	smoking (tobacco)	TS	3'-UTR	MTHFR	C677T			N	smoking (tobacco)	esophageal cancer stomach cancer
140984	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Grieu, F.  et al. 2004	15510613				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Anticancer research. 2004 Sep-Oct;24(5B):3215-9	Methylenetetrahydrofolate reductase and thymidylate synthase polymorphisms are not associated with breast cancer risk or phenotype.		607093	14564	2	2004	 The common MTHFR C677T and TS enhancer region polymorphisms were not risk factors for breast cancer in this patient cohort nor were they associated with phenotypic features or with prognosis.	Control;Case:339 women with breast cancer										
140985		folate; homocystinuria	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Kealey, C.  et al. 2005	15682292				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Human genetics. 2005 Apr;116(5):347-53	A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations.		607093	14569	2	2005	Our findings suggest that the TYMS 3'UTR del/del genotype is a significant determinant of elevated RBC folate concentration in a non-smoking population of northwestern European adults and that this genotype confers protection against diseases for which a low folate/high homocysteine phenotype appears to be an etiologic component.	Cohort non-smoking individuals of northwestern Europe 		TYMS	3'UTR del/del	MTHFR	677CC			Y		determinant of red blood cell folate and homocysteine concentrations
140986		antineoplastic toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Neoplasm Metastasis|Disease Progression	1	1p36.3	MTHFR	11768373	11788702		Jakobsen, A.  et al. 2005	15735113				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of clinical oncology. 2005 Mar;23(7):1365-9	Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity.		607093	14570	2	2005	 The analysis of gene polymorphism allows delineation of a group of patients (30%) with a response rate to a single drug of approximately 50%. This information should be used in the design of tailored treatment.	Cohort 51 colorectal cancer patients patients with measureable metastases Cohort 88 patients with colorectal cancer 	fluorouracil leucovorin									
140987		homocysteine	METABOLIC	MET	Abortion, Habitual	1	1p36.3	MTHFR	11768373	11788702		Kim, N. K.  et al. 2005	15985285				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Korean		CDC GDPinfo	4524	Hs.214142			Thrombosis research Supplement. 2005	Influence of combined methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) polymorphisms to plasma homocysteine levels in Korean patients with recurrent spontaneous abortion.		607093	14575	2	2005	 Although there was no significant difference found among combined genotypes, 3R3R showed elevated homocysteine levels in MTHFR 677TT and 1298AA in Korean patients with unexplained recurrent spontaneous abortion. Thus TSER polymorphism may be a genetic determinant of plasma homocysteine level in Korean patients as well as MTHFR C677T polymorphism.			MTHFR	677TT	TSER	3R3R			Y		plasma homocysteine levels in patients with recurrent spontaneous abortion
140989	Y	esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Wang, L. D.  et al. 2005	16045580			promoter	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	CDC GDPinfo	4524	Hs.214142			Diseases of the esophagus. 2005 ;18(3):177-84	Association of methylenetetrahydrofolate reductase and thymidylate synthase promoter polymorphisms with genetic susceptibility to esophageal and cardia cancer in a Chinese high-risk population.		607093	14577	2	2005												
140990		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Matsuo, K.  et al. 2005	16051637				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Japan	CDC GDPinfo	4524	Hs.214142			Carcinogenesis. 2005 Dec;26(12):2164-71	One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan.		607093	14578	2	2005			alcohol folate									
140991		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Wang, L.  et al. 2005	16234002				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical gastroenterology and hepatology. 2005 Aug;3(8):743-51	Genetic polymorphisms in methylenetetrahydrofolate reductase and thymidylate synthase and risk of pancreatic cancer.		607093	14584	2	2005	 The MTHFR and TS polymorphisms are genetic determinants for developing pancreatic cancer.		alcohol smoking (tobacco)									
140992		colon cancer	CANCER	CAN	Adenoma|Colonic Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Ulrich, C. M.  et al. 2005	16284371				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2509-16	Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer.		607093	14586	2	2005			diet	MTHFR		TSER	3rpt/2rpt or 2rpt/2rpt			Y	dietary folate	colon cancer
140993		esophageal cancer	CANCER	CAN	Neoplasms, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Sarbia, M.  et al. 2005	16333305				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			British journal of cancer. 2006 Jan;94(2):203-7	The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma		607093	14588	2	2005			5-flurouracil									
140994	Y	non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p36.3	MTHFR	11768373	11788702			16365025				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2999-3003	Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes		607093	14589	2	2005												
140995	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Delgado-Enciso, I.  et al. 2001	11464627				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Mexico	CDC GDPinfo	4524	Hs.214142			Rev Gastroenterol Mex. 2001 Jan-Mar;66(1):32-7	[677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results]		607093	18380	2	2001	 Our results showed that persons who carry the 677T mutation at MTHFR locus have a tendency for an increased risk for colorectal cancer. This study supports the basic concept that low levels of folic acid contribute with the colorectal cancer pathogenesis. Our lack of statistic significance may be due to reduced sample size.	Control:110 normal controls matched for sex and age;Case:74/32 colorectal cancer (n=74) and adenoma (n=32):patients										
140996	N	hypertension; homocysteine	CARDIOVASCULAR	CARD	Hypertension	1	1p36.3	MTHFR	11768373	11788702		Zhan, S.  et al. 2000	11860783				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2000 Jun;21(3):194-7	[A case-control study on the relationship between abnormal homocysteine metabolism and essential hypertension]		607093	18381	2	2000	 The present study did not discover that the elevation of Hcy levels or MTHFR mutation were independent risk factors for essential hypertension. The higher folate and B(12) in the hypertensive subjects might contribute to a lower risk.	Case:127 essential hypertensive patients aged 35 to 75, randomly selected from a community;Control:170 control subjects with blood pressure < 140/90 mmHg were selected from the same community										
140997		renal disease, end stage; hyperhomocystinemia	RENAL	REN	Kidney Failure, Chronic|Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Karpati, I.  et al. 2002	12180000				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Orvosi hetilap. 2002 Jul;143(27):1635-40	[Frequency of hyperhomocysteinemia in hemodialysis patients with folic acid supplementation]		607093	18382	2	2002	 Long-term folic acid supplementation decreased the homocysteine level in end stage renal disease patients. However, in folic acid resistant group, who were in 30% homozygotes for C667T of MTHFR (suggesting that homocysteine-methionine remethylation cycle is disturbed), instead of the administration of folic acid, methylene tetrahydrofolate supplementation might be considered.	Cohort 107 chronic renal failure patients 										
140998	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Berrut, G.  et al. 2003	12951177				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Rev Med Interne. 2003 Sep;24(9):569-76	[A common mutation C677T in the 5,10-methyltetrahydrofolate reductase gene is associated to idiopathic deep venous thrombosis]		607093	18383	2	2003	 These results suggest that homozygous C677T methylenetetrahydrofolate reductase mutation could be considered as a genetic risk factor for venous thrombosis.	Cohort 168 patients with confirmed deep venous thrombosis; 31 with an idiopathic deep venous thrombosis (group A) and 137 with thromboembolic event explained by one or more clinical and/or biological risk factors (group B) 										
140999		hyperhomocystinemia	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Jiang, B.  et al. 2003	14556201				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Zhonghua yi xue yi chuan xue za zhi. 2003 Oct;20(5):436-7	[Detecting MTHFR gene mutation with a new approach:molecular beacons]		607093	18384	2	2003	 The present method, a closed-tube PCR/hybridization assay, is a simple, high-throughput and fast procedure that is fully automated for detecting gene mutation.	Cohort 228 samples 										
141000	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1p36.3	MTHFR	11768373	11788702		Wang, X. P.  et al. 2004	15130349				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDPinfo	4524	Hs.214142			Zhonghua fu chan ke za zhi. 2004 Apr;39(4):238-41	[C677T and A1298C mutation of the methylenetetrahydrofolate reductase gene in unexplained recurrent spontaneous abortion]		607093	18385	2	2004	 The mutations of MTHFR C677T and A1298C play a role in the mechanism of unexplained recurrent spontaneous abortion.	Case:148 Chinese unexplained recurrent spontaneous abortion:cases;Control:82 normal controls										
141001	N	homocysteine	METABOLIC	MET	Cerebrovascular Accident	1	1p36.3	MTHFR	11768373	11788702		Ye, H.  et al. 2004	15769328				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Zhonghua liu xing bing xue za zhi. 2004 Nov;25(11):958-61	[A case-control study on the relationship between stroke and plasma homocysteine level and the mutation of MTHFR gene.]		607093	18386	2	2004	 Increased plasma Hcy level played an important role in the occurrence of stroke in Chinese people, and the mutation of MTHFR C677T was not associated with Hcy level or stroke which led to the speculation that plasma Hcy level was important in the prevention of cardio-cerebro-vascular diseases among Chinese people.	Control:300 controls without stroke matched for age and sex;Case:300 Chinese patients with stroke										
141002	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Fernandez-Miranda, C.  et al. 2005	15847749				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Med Clin (Barc). 2005 Apr;124(14):532-4	[Effect of hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C --> T mutation in venous thromboembolism risk of young adults]		607093	18387	2	2005	 Hyperhomocysteinemia, but not MTHFR 677C --> T mutation, is a risk factor for venous thromboembolism in young adults without other thrombogenic factors.	Case:100 adult patients younger than 50 years;Control:177 controls with similar age and gender										
141004	Y	homocysteine	METABOLIC	MET	Kidney Diseases	1	1p36.3	MTHFR	11768373	11788702		Feix, A.  et al. 2001	11684547				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			American journal of kidney diseases. 2001 Nov;38(5):956-64	Increased prevalence of combined MTR and MTHFR genotypes among individuals with severely elevated total homocysteine plasma levels		607093	18403	2	2001	In summary, our study shows that the 2756A-->G transition of MTR in combination with MTHFR 677TT/1298AA and 677CT/1298AC can be associated with extremely high tHcy plasma levels.	Case:179 peritoneal dialysis patients;Control:389 healthy subjects;Case:415 hemodialysis patients;Case:733 kidney graft recipients		MTR		MTHFR				Y		Elevated total homocysteine plasma levels
141005		hyperhomocystinemia	METABOLIC	MET	Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Geisel, J.  et al. 2001	11592436				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2001 Aug;39(8):698-704	Genetic defects as important factors for moderate hyperhomocysteinemia.		607093	18417	2	2001	In summary, larger and homogeneous study populations are necessary to quantify the small effects of common mutations on homocysteine levels. This may also be the reason that no effects of genetic interactions between two genotypes were observed.	Cohort 280 subjects of different age groups 										
141006		genotoxicity	PHARMACOGENOMIC	PHARM	DNA Damage	1	1p36.3	MTHFR	11768373	11788702		Zijno, A.  et al. 2003	12807760				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Carcinogenesis. 2003 Jun;24(6):1097-103	Folate status, metabolic genotype, and biomarkers of genotoxicity in healthy subjects.		607093	18421	2	2003	Overall, the results obtained suggest that both folate status and relevant metabolic genotype can influence background levels of DNA damage in normal subjects. The significant association observed in smokers between plasma vitamin B12 and SCE frequencies may highlight the effect of methylation status on DNA damage and repair, although the role of other, unidentified dietary factors cannot be ruled out. At the same time, micronucleus data indicate that the MTRR 66GG variant may represent another individual trait of relative genomic instability, thus supporting epidemiological data on increased risk of Down syndrome conception in MTRR 66GG subjects.	Cohort 191 healthy subjects 	smoking (tobacco)									
141007	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Pregnancy Complications|Folic Acid Deficiency	1	1p36.3	MTHFR	11768373	11788702		Relton, C. L.  et al. 2004	15059614				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Molecular genetics and metabolism. 2004 Apr;81(4):273-81	Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy.		607093	18423	2	2004	Possession of compound 1298A C and 677C T variants elevated risk of NTD pregnancy considerably. Erythrocyte folate levels were persistently lower in NTD mothers despite assays being conducted many years after the index pregnancy (17.6+/-12.6 years). Erythrocyte folate levels were depressed in the presence of the MTHFR 677C T variant.	Control pregnant controls and non-pregnant controls from the same geographical region;Case:97 mothers of NTD cases northern UK										
141008		kidney transplant complications	IMMUNE	IMM	Kidney Failure, Chronic	1	1p36.3	MTHFR	11768373	11788702		Feix, A.  et al. 2004	15135249				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Atherosclerosis. 2004 May;174(1):43-8	Methionine synthase reductase MTRR 66A > G has no effect on total homocysteine, folate, and Vitamin B12 concentrations in renal transplant patients.		607093	18424	2	2004	MTRR has no major effect on tHcy, folate, or Vitamin B(12) plasma concentrations in kidney graft recipients.	Cohort 733 kidney graft recipients 										
141009	N	congenital anomalies; cleft lip with or without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Grunert, R. R.  et al. 2002	12143122				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Mund-, Kiefer- und Gesichtschirurgie. 2002 May;6(3):131-3	[Genetic differences in enzymes of folic acid metabolism in patients with lip-jaw-palate clefts and their relatives]		607093	18503	2	2002	Our results provide no evidence that the above MTHFR gene mutations are a risk factor for CLP.A NAT1 gene mutation instead could be a risk factor for CLP.	Case:66 CLP patients;Control:88:relatives										
141010		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Strauss, E.  et al. 2005	16077191				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of physiology and pharmacology. 2005 Mar;56 Suppl 2:65-75	Age and hypertension related changes in genotypes of MTHFR 677C>T, 1298A>C and PON1 -108C>T SNPs in men with coronary artery disease (CAD).		607093	19003	2	2005			blood pressure									
141012	Y	neural tube defects	DEVELOPMENTAL	DEV		1	1p36.3	MTHFR	11768373	11788702		Trinh, B. N.  et al. 2002	12215845				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Human genetics. 2002 Sep;111(3):299-302	Thymidylate synthase: a novel genetic determinantof plasma homocysteine and folate levels.		607093	20046	2	2002	Our results suggest that TYMS and MTHFR compete for limiting supplies of folate required for the remethylation of homocysteine. These genetic determinants of plasma folate and homocysteine levels may be useful in identifying individuals at increased risk for cardiovascular disease.	Cohort 505 Chinese individuals Singapore 										
141013	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Szolnoki, Z.  et al. 2005	15595935				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Acta neurologica Scandinavica. 2005 Jan;111(1):29-33	Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke.		607093	22968	2	2005	 The eNOS G894T or eNOS 894TT genotypes in combination with the MTHFR 677TT or ACE D/D genotype increases the risk of ischaemic stroke.	Control:295 stoke and neuroimaging alteration-free Caucasian:subjects;Case:407 consecutive patients with acute ischaemic stroke who had never suffered a previous stroke event										
141014		intima-media thickness	CARDIOVASCULAR	CARD	Helicobacter Infections|Cerebrovascular Accident|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	1	1p36.3	MTHFR	11768373	11788702		Markus, H.  et al. 2001	11692002				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	UK African Caribbean	Africa|Caribbean Region|Great Britain	CDC GDPinfo	4524	Hs.214142			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2465-71	Increased common carotid intima-media thickness in UK African Caribbeans and its relation to chronic inflammation and vascular candidate gene polymorphisms		607093	22969	2	2001	 Carotid IMT is increased in UK African Caribbeans even after controlling for conventional risk factors. There are highly significant ethnic differences in the distribution of many potential cerebrovascular candidate genes. Although those we examined did not explain the ethnic differences in IMT, other genetic predispositions or environmental exposures could account for these differences.	Cohort 291 men (202 Caucasian and 89 African Caribbean) Britain 										
141015		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702			16351505				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese		CDC GDPinfo	4524	Hs.214142			Nutrition and cancer. 2005 ;53(1):42-50	Folate, vitamin b(6), vitamin b(12), and vitamin b(2) intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan		607093	22970	2	2005			alcohol body mass dietary fiber folate smoking (tobacco) Vitamin B12 vitamin B2 Vitamin B6									
141016		asthma; folate; hyperhomocystinemia	IMMUNE	IMM	Cardiovascular Diseases|Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Quinzii, C.  et al. 2001	11471199				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Croatian medical journal. 2001 Aug;42(4):458-62	Predictive genetic testing - new possibilities in determination of risk of complex diseases		607093	22971	2	2001	Prospective development of genomic medicine and its use in the study of complex traits will hopefully bring significant benefit to the population and enhance the prevention and therapy of common diseases.		leukotriene inhibitors									
141017	Y	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Cerebrovascular Accident	1	1p36.3	MTHFR	11768373	11788702		Topic, E.  et al. 2001	11388660				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2001 Apr;39(4):346-50	Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease.		607093	22972	2	2001	The preliminary results obtained in this study revealed an association of the MTHFR and APOE gene polymorphism with cerebrovascular disease, suggesting a significant risk for stroke in subjects who are homozygous for the T allele and for carotid stenosis in subjects having APOEepsilon3epsilon4 genotype. Additional studies in larger patient groups are needed to confirm these observations.	Control:124 age and sex matched healthy volunteers;Case:36 carotid stenosis patients;Case:56 stroke patients										
141018	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36.3	MTHFR	11768373	11788702		Anello, G.  et al. 2004	15073531				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Neuroreport. 2004 Apr;15(5):859-61	Homocysteine and methylenetetrahydrofolate reductase polymorphism in Alzheimer's disease		607093	22973	2	2004	In conclusion, association of homocysteine with AD was aggravated by MTHFR 677 T and APOE epsilon4 alleles.	Case:180 Alzheimer's disease cases southern Italy;Control:181:controls										
141019		homocysteine	METABOLIC	MET	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Afman, L. A.  et al. 2003	12649066				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Molecular genetics and metabolism. 2003 Mar;78(3):211-5	Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.		607093	22974	2	2003	 The present study indicates that the number of 31 bp repeat elements in the CBS gene influences tHcy levels. This VNTR seems not to be associated with an increased risk for NTD.	Control:505:controls;Case:88/100/88 neural tube defect patients (n=88), mothers (n=100) and fathers (n=88)										
141020	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	1	1p36.3	MTHFR	11768373	11788702		Gutierrez, J. I.  et al. 2005	15755387				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Med Clin (Barc). 2005 Mar;124(8):281-4	[Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease]		607093	22975	2	2005	 We did not find any indication that genetic variation in the CBS and MTHFR genes are associated with homocysteine-related risk of CVD, hence needing further investigation. The contributions to total plasma homocysteine levels of the common mutations of genes coding for the enzymes controlling homocysteine metabolism are modest.	Control:159:controls;Case:64 patients with cerebral vascular disease										
141021		homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Dekou, V.  et al. 2001	11204591				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2001 Jan;85(1):67-74	Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men.		607093	22976	2	2001	This interaction between CBS genotype and MTHFR and MS genotype points to a key role of the CBS transulphuration pathway in the metabolism of homocysteine that may be particularly important as a compensatory mechanism in subjects with low dietary folate.	Control:1,470 Healthy middle-aged men from eight general practices across Britain:Britain	folate smoking (tobacco) Vitamin B12									
141022	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Le Marchand, L.  et al. 2002	12020105				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United States	CDC GDPinfo	4524	Hs.214142			Cancer causes & control. 2002 Apr;13(3):239-48	B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).		607093	22977	2	2002	 This study provides additional evidence for a decreased CRC risk for subjects with the MTHFR 677T allele, particularly at high levels of folate and vitamin B6 intake. Our data also suggest that the relationships between CRC and the MTHFR A1298C and CBS 844ins68 polymorphisms warrant further study.	Case:727 colorectal cancer cases of Japanese, Caucasian, or Native Hawaiian origin;Control:727 controls matched on sex, age, and ethnicity										
141023		homocysteine	METABOLIC	MET	Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Kluijtmans, L. A.  et al. 2003	12642343				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood. 2003 Apr;101(7):2483-8	Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.		607093	22978	2	2003	Our study indicates that dietary factors are centrally important in the control of tHcy levels in young adults with additional, but somewhat weaker, genetic effects. These data underscore the potential benefits that may be gained by improving the dietary status of young adults, and provide support for the implementation of folate/B-vitamin food fortification programs.	Cohort 452 young adults 	folate Vitamin B12									
141024		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	1	1p36.3	MTHFR	11768373	11788702		Krajinovic, M.  et al. 2005	16013960				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Pharmacogenomics. 2005 Apr;6(3):293-302	Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.		607093	22979	2	2005			radiation									
141026	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Grossmann, R.  et al. 2002	12413583				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis research. 2002 Jul;107(2-Jan):13-5	CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis.		607093	22982	2	2002	In conclusion, MTHFR TT677 does not appear to be an important risk factor for DVT, EPCR 403ins23 seems to be very rare, its role in the development of DVT unclear. A putative protective effect of CBS 844ins68 should be further investigated.	Case:300 consecutive deep vein thrombosis patients;Control:410 healthy blood donors										
141028		hyperhomocysteinemia	METABOLIC	MET	Hyperhomocysteinemia|Folic Acid Deficiency|Vitamin B 12 Deficiency	1	1p36.3	MTHFR	11768373	11788702		Geisel, J.  et al. 2003	14656021				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2003 Nov;41(11):1427-34	The role of genetic factors in the development of hyperhomocysteinemia.		607093	22984	2	2003	In conclusion, the study on vegetarians and seniors documents interesting lifestyle-genotype interactions. Although the TC and COMT mutations influence cellular vitamin B12 metabolism, this effect did not result in overt homocysteine elevation.	Cohort 111/118 										
141029		homocysteine	METABOLIC	MET	Carotid Stenosis	1	1p36.3	MTHFR	11768373	11788702		Wang, J.  et al. 2004	15151507				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical genetics. 2004 Jun;65(6):483-6	Single nucleotide polymorphism in CTH associated with variation in plasma homocysteine concentration.		607093	22985	2	2004	The findings suggest that common variation in CTH may be a determinant of plasma tHcy concentrations.	Cohort 496 Caucasian subjects 										
141030		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Forsti, A.  et al. 2004	15010895				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Poland|Finland	CDC GDPinfo	4524	Hs.214142			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		607093	22986	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
141031	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Kalemi, T. G.  et al. 2005	15837541				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Greece	CDC GDPinfo	4524	Hs.214142			Cancer letters. 2005 May;222(1):57-65	The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece.		607093	22987	2	2005	results showed that p53 codon 72 polymorphism is statistically significantly associated with breast cancer (OR for Arg/Arg to non-Arg/Arg was 6.66, P=0.0001 at 95% CI 2.63-16.9), but not Her 2 and MTHFR polymorphisms	Case:42 women with breast cancer Northern Greece;Control:51:controls										
141032	Y	sickle cell anemia	HEMATOLOGICAL	HEM	Vascular Diseases|Anemia, Sickle Cell	1	1p36.3	MTHFR	11768373	11788702		Couto, F. D.  et al. 2004	15481892				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Brazil	CDC GDPinfo	4524	Hs.214142			Hemoglobin. 2004 Aug;28(3):237-41	A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil		607093	22988	2	2004	These results became important once the C677T MTHFR gene polymorphism was found to be an independent risk factor for vascular disease, a common clinical event in sickle cell disease.	Cohort 69/50 sickle cell disease patients tested for the C677T MTHFR gene polymorphism (n=69) and for the G20210A mutation (n=50) 										
141033		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism	1	1p36.3	MTHFR	11768373	11788702		Morin, I.  et al. 2003	12855225				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Canada	CDC GDPinfo	4524	Hs.214142			Molecular genetics and metabolism. 2003 Jul;79(3):197-200	Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk.		607093	22989	2	2003	Since this small study is the first to demonstrate increased risk for women with the RFC-1 variant for having a child with a NTD, additional larger studies are required to confirm this change as another potential genetic modifier for spina bifida risk.	Case mothers of spina bifida offspring;Control control women										
141035		homocyteine	METABOLIC	MET	Folic Acid Deficiency	1	1p36.3	MTHFR	11768373	11788702			16317120				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The Journal of nutrition. 2005 Dec;135(12):2780-5	The Glycine N-Methyltransferase (GNMT) 1289 C->T Variant Influences Plasma Total Homocysteine Concentrations in Young Women after Restricting Folate Intake		607093	22991	2	2005			folate									
141036		thalassemia, beta	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Hemoglobinopathies	1	1p36.3	MTHFR	11768373	11788702		Couto, F. D.  et al. 2004	15073633				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Brazil	CDC GDPinfo	4524	Hs.214142			Cad Saude Publica. 2004 Mar-Apr;20(2):529-33	C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador,Bahia, Brazil		607093	22992	2	2004	These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.	Cohort 683 newborns Cohort 763 newborns Cohort 843 neonates from two different maternity hospitals Salvador, Bahia, Brazil 										
141037		liver transplant	OTHER	OTH		1	1p36.3	MTHFR	11768373	11788702		Breen, D. P.  et al. 2005	15973722				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Liver transplantation. 2005 Jul;11(7):826-33	Pharmacogenetic association with adverse drug reactions to azathioprine immunosuppressive therapy following liver transplantation.		607093	22993	2	2005			azathioprine									
141038	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702		De Marco, P.  et al. 2002	12111380				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Italian	Italy	CDC GDPinfo	4524	Hs.214142			Journal of human genetics. 2002 ;47(6):319-24	Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.		607093	22994	2	2002	This study shows that the MTHFRA1298C polymorphism is a genetic determinant for NTD risk in Italy. No association between the MSA2756G and NTD susceptibility was found.	Control:210 control individuals;Case:98/67 mothers and fathers with NTD affected pregnancies										
141039		lymphoma; multiple myeloma	CANCER	CAN	Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular|Multiple Myeloma|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Lincz, L. F.  et al. 2003	12648076				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			British journal of haematology. 2003 Mar;120(6):1051-4	Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin's lymphoma or multiple myeloma.		607093	22995	2	2003	The MS 2756 AG/GG genotypes were significantly under-represented in NHL (26.2%) vs control subjects (37.2%; P = 0.02), and conferred a 2.4-fold lower risk of follicular (odds ratio =	Case:151/90 Caucasians with non-Hodgkin's lymphoma (NHL; n = 151), multiple myeloma (MM; n = 90);Control:299 control subjects										
141040		myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Hyperhomocysteinemia|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Helfenstein, T.  et al. 2005	15820491				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinica chimica acta; international journal of clinical chemistry. 2005 May;355(2-Jan):165-72	Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T methylenetetrahydrofolate reductase and A2756G methionine synthase polymorphisms in diabetic and non-diabetic subjects.		607093	22996	2	2005	 Higher homocysteinemia was predominantly observed in men, presenting low HDL-C, and at advancing age. Methylenetetrahydrofolate reductase and methionine synthase polymorphisms did not contribute to risk assessment in diabetic and non-diabetic subjects presenting normal folate levels.											
141041		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Folic Acid Deficiency|Vitamin B 12 Deficiency|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Yates, Z.  et al. 2003	12855226				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Molecular genetics and metabolism. 2003 Jul;79(3):201-13	Interaction between common folate polymorphisms and B-vitamin nutritional status modulates homocysteine and risk for a thrombotic event.		607093	22997	2	2003	These results are consistent with accepted paradigms and offer a plausible explanation for the effect and interaction of specific SNPs in the TE phenotype. The biological implications of the limited number of MTHFR/MTHFR mutant alleles that can coexist, u	Cohort 152 individuals who were being treated for either thromboembolic (TE) or non-thromboembolic (non-TE) events 										
141042		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gemmati, D.  et al. 2004	15159311				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):787-94	Common Gene Polymorphisms in the Metabolic Folate and Methylation Pathway and the Risk of Acute Lymphoblastic Leukemia and non-Hodgkin's Lymphoma in Adults		607093	22998	2	2004	These data are in accordance with the hypothesis that polymorphisms in the genes for folate and methionine metabolism might play a greater role in the occurrence of ALL than NHL by influencing DNA synthesis and/or DNA methylation.	Case:120/200 adult acute lymphoblastic leukemia (n=120) and non-Hodgkin's lymphoma (n=200) patients;Control:257 healthy control subjects										
141043		thromboembolism, venous; hyperhomocystinemia	CARDIOVASCULAR	CARD	Thromboembolism|Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Miriuka, S. G.  et al. 2005	15612980				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Transplant international. 2005 Jan;18(1):29-35	Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients		607093	22999	2	2005	In conclusion, there was a significant difference in the frequency of the G allele genotype of the MTRR A66G in CTX patients versus controls. Differences in cobalamin and folate levels with the MTRR A66G and MS A2756G polymorphisms were noted. Thus, SNP in Hcy-regulating genes may be important determinants of vitamin metabolism in CTX, raising the question of increased vitamin requirements to minimize increased plasma Hcy in this high-risk group.	Control healthy adult controls;Case:84 heart transplant patients										
141044		homocysteine	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Hiraoka, M.  et al. 2004	15044114				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese	Japan	CDC GDPinfo	4524	Hs.214142			Biochemical and biophysical research communications. 2004 Apr;316(4):1210-6	Gene-nutrient and gene-gene interactions of controlled folate intake by Japanese women		607093	23000	2	2004	The tHcy value was significantly lower in young women with CC or CT of MTHFR than with TT.	Cohort Japanese women 										
141046		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	1	1p36.3	MTHFR	11768373	11788702		Krajinovic, M.  et al. 2003	14647408				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The pharmacogenomics journal. 2004 ;4(1):66-72	Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia.		607093	23002	2	2003	These results reveal the role of gene-gene interactions within a folate pathway, and how they can correlate with relapse probabilities in ALL patients.	Cohort 201 children treated with methotrexate for childhood acute lymphoblastic leukemia 	methotrexate									
141047		abruptio placentae	REPRODUCTION	REP	Abruptio Placentae	1	1p36.3	MTHFR	11768373	11788702		Parle-McDermott, A.  et al. 2005	15633187				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			American journal of medical genetics Part A. 2005 Feb;132(4):365-8	MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.		607093	23003	2	2005	We conclude that  women who are 'QQ' homozygote for the MTHFD1 1258G --> A (R653Q) polymorphism are almost three times more likely to develop severe abruptio placentae during their pregnancy than women who are 'RQ' or 'RR.'	Control:184 control pregnancies;Case:62 women with a pregnancy history complicated by severe abruptio placentae										
141048	Y	drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	1	1p36.3	MTHFR	11768373	11788702		de Jonge, R.  et al. 2005	15797993				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		607093	23004	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
141049	Y	omphalocele	DEVELOPMENTAL	DEV	Hernia, Umbilical	1	1p36.3	MTHFR	11768373	11788702		Mills, J. L.  et al. 2005	15937947				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		New York	CDC GDPinfo	4524	Hs.214142			American journal of medical genetics Part A. 2005 Jul;136(1):11-Aug	Folate-related genes and omphalocele.		607093	23005	2	2005	In this small study, the thermolabile variant of MTHFR, 677C --> T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.	Case:25 children with euploid omphalocele;Control:59 matched controls										
141050		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Oterino, A.  et al. 2005	15953655				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Brain research  Molecular brain research. 2005 Sep;139(1):163-8	Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele.		607093	23006	2	2005	We conclude that  the pathogenetic role of the MTHFR T677 allele in migraine is modulated by functional polymorphisms of TS and MTHFD1.											
141051		Parkinson's disease	NEUROLOGICAL	NEUR		1	1p36.3	MTHFR	11768373	11788702		Rady, P. L.  et al. 2002	11807892				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			American journal of medical genetics. 2002 Jan;107(2):162-8	Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.		607093	23007	2	2002	Compound heterozygosity for multiple polymorphic alleles may play a role in birth defects and vascular diseases.	Cohort 										
141053		atherosclerosis	CARDIOVASCULAR	CARD	Arteriosclerosis	1	1p36.3	MTHFR	11768373	11788702		Zuliani, G.  et al. 2002	12196500				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The journals of gerontology Series A, Biological sciences and medical sciences. 2002 Sep;57(9):M611-5	Genetic Factors Associated With the Absence of Atherosclerosis in Octogenarians		607093	25276	2	2002	 The low prevalence of the PON 192 B allele in the VaSA subjects suggests that this polymorphism might have an important role in VaSA, probably by hydrolyzing lipid peroxides and thus preventing low-density lipoprotein from undergoing the oxidative modification. This finding further supports the oxidative hypothesis of ATS.	Control:161 controls with a negative history for cardiovascular:disease;Case:30/30 subjects with moderate carotid atherosclerosis (n=30) and subjects with vascular successful aging:(n=30)										
141054		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Hypertension	1	1p36.3	MTHFR	11768373	11788702		Assanelli, D.  et al. 2004	15554031				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Italian heart journal. 2004 Aug;5(8):604-11	Determinants of early-onset cardiovascular disease:a case-control study of young myocardial infarction patients.		607093	25277	2	2004	 On the basis of these results, we believe that acute coronary events in young subjects should be followed by a screening of their siblings, as they might be at higher risk for cardiovascular disease.	Case:48 subjects (age < 41 years) diagnosed with myocardial:infarction;Control:48										
141055		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Pregnancy Complications, Hematologic|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Infante-Rivard, C.  et al. 2002	12097536				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The New England journal of medicine. 2002 Jul;347(1):19-25	Absence of association of thrombophilia polymorphisms with intrauterine growth restriction.		607093	25278	2	2002	 Our findings do not indicate that there are associations between maternal or newborn polymorphisms associated with thrombophilia and an increased risk of intrauterine growth restriction.	Control:472 controls (with birth weight at or above the 10th:percentile);Case:493 newborns with intrauterine growth restriction (defined by birth weight below the 10th percentile for gestational age and sex according to Canadian norms) and their parents										
141056		thrombosis	CARDIOVASCULAR	CARD	Budd-Chiari Syndrome|Venous Thrombosis|Budd-Chiari Syndrome|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Heller, C.  et al. 2000	11122096				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			British journal of haematology. 2000 Nov;111(2):534-9	Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - amulticentre case-control study. For the Childhood Thrombophilia Study Group.		607093	25279	2	2000	The data presented here suggest that genetic prothrombotic risk factors also play an important role in abdominal venous thrombosis during infancy.	Control:100 age- and sex-matched healthy controls;Case:65 consecutively recruited infants (neonate to < 12 months) with renal venous thrombosis (RVT; n = 31), portal vein thrombosis (PVT; n = 24) or hepatic vein thrombosis (HVT n = 10)										
141057		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Thrombophilia|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Bykowska, K.  et al. 2000	11434083				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Polish	Poland	CDC GDPinfo	4524	Hs.214142			Pol Arch Med Wewn. 2000 Nov;104(5):729-33	[Prevalence of G20210A prothrombin gene mutation in Poland]		607093	25280	2	2000	Our results indicate that the presence of the 20210A allele is a mild risk factor for venous thrombosis if not associated with other	Case:323 subjects with venous thromboembolism before the age of 45, recurrent VTE or thrombosis in an unusual:site.;Control:399 healthy individuals										
141058		pregnancy complications	REPRODUCTION	REP	Pregnancy Complications, Hematologic|Blood Coagulation Disorders	1	1p36.3	MTHFR	11768373	11788702		Arcadia, P.  et al. 2002	11828266				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Minerva ginecologica. 2002 Feb;54(1):13-Sep	[Genetic mutations, acquired coagulation system disorders and obstetric pathology. Personal experience]		607093	25281	2	2002	 It is important to evaluate the hemocoagulation patterns in women with a history of complicated pregnancies.	Control:36 pregnancies without complications;Case:63 patients with pregnancy complications										
141059		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Activated Protein C Resistance|Protein C Deficiency|Protein S Deficiency	1	1p36.3	MTHFR	11768373	11788702		Prochazka, M.  et al. 2003	12879654				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Ceska Gynekol. 2003 May;68(3):162-6	[Occurrence of gene mutations in factor V Leiden, prothrombin and methylenetetrahydrofolate reductase in patients with pre-eclampsia]		607093	25282	2	2003	 We didn't find any difference in the prevalence of genetic mutations in patients with preeclampsia compared to the control group. The prevalence of APC resistance was statistically higher in preeclamptic patients compared to the control group.	Case:38 women with confirmed diagnosis of preeclampsia;Control:50 women, chosen randomly										
141060		thrombosis, deep vein; pulmonary thromboembolism	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			14669613				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Ter Arkh. 2003 ;75(10):78-80	[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis]		607093	25283	2	2003	 Determination of prothrombotic genotypes is a key factor of treatment efficacy and prevention of life-threatening thromboembolic complications.	Cohort 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery) 										
141061		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1p36.3	MTHFR	11768373	11788702		Driul, L.  et al. 2004	15531855				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Minerva ginecologica. 2004 Oct;56(5):385-90	[Screening for pre-eclampsia in a low-risk population at 24 weeks: uterine artery Doppler flowvelocimetry and genetic variants of factor V, prothrombin and methylenetetrahydrofolate reductase]		607093	25284	2	2004	 We demonstrated the important association between FV Leiden mutation, abnormal uterine artery Doppler flow velocimetry at 24 weeks and pre-eclampsia in our low-risk population.	Case women with preeclampsia;Control patients with normal pregnancies										
141062		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Chuansumrit, A.  et al. 2004	15691154				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Thai	Thailand	CDC GDPinfo	4524	Hs.214142			The Southeast Asian journal of tropical medicine and public health. 2004 Jun;35(2):450-2	Absence of factor V Arg306--Thr and low factor V Arg306->Gly mutation prevalence in Thai blood donors.		607093	25285	2	2004	The low prevalence of factor V gene mutations in the codon Arg 306 may be relevant to the low rate of thrombosis among the Thai population.	Case:30 Thai children (boys 20, girls 10) experiencing a total of 36 thrombotic episodes;Control:500 healthy Thai adult voluntary blood donors (males 285, females 215)										
141063	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Puerperal Disorders|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702			15790048				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Vojnosanitetski pregled  Military-medical and pharmaceutical review. 2005 Mar;62(3):201-5	[Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]		607093	25286	2	2005	 Our study suggested that the obligatory testing for FV Leiden and FII G20210A mutations was strongly recommended in women with history of venous thrombosis during pregnancy and puerperium. We found a slight effect of MTHFR 677T allele, but it should be considered in association with other risk factors.	Cohort 45 women with the first episode of deep venous thrombosis during pregnancy or puerperium 										
141065		stroke, ischemic; cerebrovascular disease; thrombosis, arterial	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Thrombosis|Antiphospholipid Syndrome	1	1p36.3	MTHFR	11768373	11788702			16320685				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Ter Arkh. 2005 ;77(10):49-53	[Mutations of genes associated with thromboses in ischemic stroke in patients with primary antiphospholipid syndrome]		607093	25288	2	2005	 It is suggested that mutations studied do not play a significant role in development of cerebral and systemic thrombosis in patients with PAPS. The leading role belongs to antiphospholipid antibodies (aPL). Sometimes these mutations may protect from thrombogenic aPL action. This could underlie less frequent development of recurrent ischemic stroke in patients with mutation.											
141066		thromboembolism, venous	CARDIOVASCULAR	CARD		1	1p36.3	MTHFR	11768373	11788702		Ray, J. G.  et al. 2001	11806787				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Current controlled trials in cardiovascular medicine. 2001 ;2(3):141-149	Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factorsfor venous thromboembolism in women.		607093	25289	2	2001	 Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.	Control Age-matched control women who were free of venous:thrombosis;Case:129 women aged 16-79 years with objectively confirmed:VTE										
141067		thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Meglic, L.  et al. 2003	14597244				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			European journal of obstetrics, gynecology, and reproductive biology. 2003 Dec;111(2):157-63	Factor V Leiden, prothrombin 20210G --> A, methylenetetrahydrofolate reductase 677C --> T and plasminogen activator inhibitor 4G/5G polymorphism in women with pregnancy-related venous thromboembolism.		607093	25290	2	2003	 Women with pregnancy-related venous thromboembolism have an increased prevalence of inheritable thrombophilic defects predisposing them to an increased risk of thrombosis.	Case:30 women with a history of objectively confirmed venous thromboembolism during pregnancy or the:puerperium;Control:56 women with normal pregnancies										
141068		stroke	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Patnaik, M.  et al. 2004	15096570				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The Journal of molecular diagnostics. 2004 May;6(2):137-44	Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay.		607093	25291	2	2004	The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods.	Cohort 1,448 tested genotypes 										
141070		antiphospholipid syndrome	IMMUNE	IMM	Thrombophilia|Antiphospholipid Syndrome	1	1p36.3	MTHFR	11768373	11788702		Forastiero, R.  et al. 2001	11454529				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Haematologica. 2001 Jul;86(7):735-41	The combination of thrombophilic genotypes is associated with definite antiphospholipid syndrome.		607093	25293	2	2001	 Present data indicate that testing for heritable thrombophilia would be important to identify aPL subjects with an increased risk of developing APS.	Case:105 consecutive unselected patients with antiphospholipid antibodies grouped as having antiphospholipid syndrome (n= 69) and not having antiphospholipid syndrome (n= 36);Control:200 healthy subjects										
141071	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Varela, M. L.  et al. 2001	11738073				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis research. 2001 Dec;104(5):317-24	Major and potential prothrombotic genotypes in a cohort of patients with venous thromboembolism.		607093	25294	2	2001	We conclude that  FVL and the PT-20210A are risk factors for VT as well as Hcy levels, but the MTHFR and PAI-1 polymorphisms do not appear to be associated with VT in our country.	Case:192 consecutive unrelated patients referred for evaluation of thrombophilia because of VT;Control:200 healthy controls										
141072		hypertension, pregnancy induced	CARDIOVASCULAR	CARD	HELLP Syndrome|Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Thrombosis|Hypertension|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		D'Aniello, G.  et al. 2003	14508198				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of hypertension. 2003 Oct;21(10):1915-20	The search for thrombophilic gene mutations in women with gestational hypertension does not help in predicting poor pregnancy outcome.		607093	25295	2	2003	 Only Factor II:C activity levels, uterine arterial Doppler and a history of familial hypertension are useful in predicting poor pregnancy outcome in gestational hypertension.	Cohort 59 women with gestational hypertension were prospectively tested between 24 and 26 weeks of gestation 										
141073		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Disease Progression	1	1p36.3	MTHFR	11768373	11788702		Gerhardt, A.  et al. 2005	15842353				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of thrombosis and haemostasis. 2005 Apr;3(4):686-91	The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia.		607093	25296	2	2005	Hereditary risk factors for venous thrombosis do not predispose for severe preeclampsia. However, women who are carriers of the G20210A prothrombin gene mutation and the PAI-1 5G/5G genotype are at risk for early onset of severe preeclampsia. It appears that these risk factors do not induce the pathomechanism but accelerate the course of preeclampsia.	Control:277 normal women;Case:97 women with a history of preeclampsia;Case:97 women with evere preeclampsia in previous:pregnancies										
141074		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Krause, M.  et al. 2005	15886801				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2005 May;93(5):867-71	Lipoprotein (a) and other prothrombotic risk factors in Caucasian women with unexplained recurrent miscarriage. Results of a multicentre case-control study.		607093	25297	2	2005	Upon univariate analysis the heterozygous FV mutation, Lp(a) > 30 mg/dL, increased APA/ACA and BMI > 25 kg/m(2) in combination with a prothrombotic risk factor were found to be significantly associated with uRM. In multivariate	Control:133 age-matched healthy controls;Case:133 Caucasian women aged 17-40 years (median 29 years) suffering from unexplained recurrent miscarriage:1998 - 2003										
141075		pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Glueck, C. J.  et al. 2005	16154434				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Metabolism:  clinical and experimental. 2005 Oct;54(10):1345-9	The factor V Leiden mutation, high factor VIII, and high plasminogen activator inhibitor activity:etiologies for sporadic miscarriage.		607093	25298	2	2005												
141076		retinal vascular occlusive disease	OTHER	OTH	Retinal Vein Occlusion	1	1p36.3	MTHFR	11768373	11788702		Boyd, S.  et al. 2001	11673296				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The British journal of ophthalmology. 2001 Nov;85(11):1313-5	Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion.		607093	25299	2	2001	 This study has not identified new risk factors for CRVO.	Case:63 consecutive patients with central retinal vein:occlusion;Control:63 age matched controls										
141077		thromboembolism, venous; homocysteine; thromboembolism, arterial	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Harrington, D. J.  et al. 2003	12747593				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):496-500	Genetic variations observed in arterial and venous thromboembolism--relevance for therapy, risk prevention and prognosis.		607093	25300	2	2003	factor V Leiden was found to be a risk factor in venous thrombosis, while the methylenetetrahydrofolate reductase C677T mutation was a significant variable in both venous and arterial thrombosis. In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the -455G/A beta-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.	Cohort 146/199/58 patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) North Western Russia 	vitamins									
141078		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	1	1p36.3	MTHFR	11768373	11788702		Obineche, E. N.  et al. 2001	11768721				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United Arab Emirates	CDC GDPinfo	4524	Hs.214142			Hypertension research. 2001 Nov;24(6):635-9	An association study of five genetic loci and left ventricular hypertrophy amongst Gulf Arabs.		607093	25301	2	2001	In conclusion, our results suggest an association between LVH and the C825T allele of the G-protein beta3 subunit gene.	Control:115 age- and sex-matched controls (23 hypertensives and 92 normotensives) who did not present with LVH, from United Arab Emirati population;Case:98 subjects with LVH (78 hypertensives and 20 normotensives) from United Arab Emirati population										
141080	Y	kidney transplant complications	IMMUNE	IMM	Kidney Diseases|Proteinuria|Graft vs Host Disease|Chronic Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Viklicky, O.  et al. 2004	15369724				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical biochemistry. 2004 Oct;37(10):919-24	Association of methylenetetrahydrofolate reductase T677 allele with early development of chronic allograft nephropathy		607093	25303	2	2004	 The MTHFR T677 allele is associated with the presence of CAN in kidney graft biopsies 12 months after transplantation.	Control:365 normal controls;Case:92 kidney transplant recipients with stable renal fraft function and no signs of acute rejection										
141081	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Arterial Occlusive Diseases|Thrombosis|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Yeh, P. S.  et al. 2004	15351855				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Taiwan	CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2004 Sep;92(3):583-9	Prognosis of young ischemic stroke in Taiwan:impact of prothrombotic genetic polymorphisms		607093	25304	2	2004	Our data indicate that the prothrombotic genetic polymorphisms do not have a significant influence on the prognosis in young ischemic stroke due to arterial occlusion or undetermined causes in Taiwan.	Cohort 231 patients younger than 50 years (mean age 44.6 years, range 25 to 49 years) with acute ischemic stroke due to large artery atherosclerosis (n=90), small artery occlusion (n=114) or undetermined cause (n=27) Taiwan 										
141082		heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hyperlipoproteinemia Type II	1	1p36.3	MTHFR	11768373	11788702		Meshkov, A. N.  et al. 2005	16091654				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Kardiologiia. 2005 ;45(7):14-Oct	[Genetic Factors of Risk of Ischemic Heart Disease Development in Patients With Familial Hypercholesterolemia.]		607093	25305	2	2005	 In patients with FHC polymorphisms in factor VII and GPIIIa genes but not C677T polymorphism of MTHFR gene were associated with the presence of IHD.											
141083	N	cerebrovascular disease; coronary artery disease, occlusive	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Coronary Artery Disease|Myocardial Infarction|Arterial Occlusive Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Zhang, G.  et al. 2001	11672761				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	CDC GDPinfo	4524	Hs.214142			Thrombosis research. 2001 Nov;104(3):187-95	Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.		607093	25306	2	2001	Our results suggest that neither single mutation nor combined mutations in MTHFR C677T, CBS 844ins68 and MS A2756G represent an independent risk factor for increasing IS and coronary artery disease risks in Chinese population. However, CBS 844ins68 may be a protective factor against vascular thromboembolic disease. The prevalence of CBS 844ins68 and MS A2756G in Chinese population is obviously lower than in Western Caucasian population.	Control:100 healthy controls;Case:102 patients with ischemic stroke;Case:73 patients with myocardial infarction										
141084		hyperhomocystinemia	METABOLIC	MET	Brain Ischemia|Myocardial Ischemia	1	1p36.3	MTHFR	11768373	11788702		Zhang, G.  et al. 2002	12015064				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Zhonghua xue ye xue za zhi. 2002 Mar;23(3):126-9	[Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases]		607093	25307	2	2002	 Hyperhomocysteinemia is an important risk factor for ischemic cerebrovascular and cardiovascular disease. The homozygosity of MTHFR C677T may contribute to the increase of plasma Hcy and vascular damage.	Control:80 healthy controls;Case:86/66 86 patients with cerebral infarction, 66 with myocardial infarction										
141085		lung cancer; breast cancer; colorectal cancer	CANCER	CAN	Neoplasms|Adenocarcinoma|Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Paz, M. F.  et al. 2002	12154064				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer research. 2002 Aug;62(15):4519-24	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.		607093	25308	2	2002	The existence of these associations may provide another example of the interplay between genetic and epigenetic factors in the cancer cell.	Cohort 233 cancer patients 										
141086		myocardial infarction; brain infarction	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Cardiovascular Diseases|Myocardial Ischemia	1	1p36.3	MTHFR	11768373	11788702		Dai, C.  et al. 2001	11758232				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Zhonghua xue ye xue za zhi. 2001 Sep;22(9):484-7	[Study on homocysteine metabolism related enzymes gene mutations in Chinese patients with ischemic cardiovascular and cerebrovascular diseases]		607093	25309	2	2001	 Gene mutations as CBS 844ins 68, MS A2756G and MTHFR C677T may not be independent risk factors for ischemic cardiovascular and cerebrovascular disease in Southern Chinese Han population. The prevalences of CBS 844ins 68 and MS A2756G may vary with different ethnic groups or geographic regions.	Control:100 Southern Chinese Han healthy controls;Case:102 patients with brain infarction;Case:73 Southern Chinese Han patients with myocardial:infarction										
141087	Y	cervical artery dissection, spontaneous	CARDIOVASCULAR	CARD	Vertebral Artery Dissection	1	1p36.3	MTHFR	11768373	11788702		Konrad, C.  et al. 2004	15503105				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of neurology. 2004 Oct;251(10):1242-8	Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections		607093	25310	2	2004	These data suggest that elevated homocysteine is associated with the occurrence of sCAD. The MTHFR C677T polymorphism is associated with the homocysteine level.	Control:95 age- and sex-matched healthy individuals;Case:95 patients with past spontaneous cervical artery:dissections										
141088		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	1	1p36.3	MTHFR	11768373	11788702		Spiridonova, M. G.  et al. 2001	11507973				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Russia	CDC GDPinfo	4524	Hs.214142			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		607093	26428	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
141089		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Coronary Artery Disease	1	1p36.3	MTHFR	11768373	11788702		Nakai, K.  et al. 2004	15193960				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Israel	CDC GDPinfo	4524	Hs.214142			Life sciences. 2004 Jul;75(8):1003-10	Ethnic differences of coronary artery disease-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry.		607093	26429	2	2004	We demonstrated an ethnic difference of CAD-associated SNPs in two Israeli healthy populations using MALDI-TOF mass spectrometry. Further study is necessary to prove causal relation with CAD-associated SNPs and the prevalence of CAD.	Cohort 94 Israeli healthy populations (47 Ashkenazi Jews and 47 Yemenite Jews) obtained from the National Laboratory for the Genetics of Israeli Populations 										
141090		bladder cancer; cytogenetic studies	CANCER	CAN	Urinary Bladder Neoplasms	1	1p36.3	MTHFR	11768373	11788702			16343742				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer letters. 2005	Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours		607093	26430	2	2005			smoking (tobacco)									
141091		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1p36.3	MTHFR	11768373	11788702		Austin, H.  et al. 2002	12468767				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United States	CDC GDPinfo	4524	Hs.214142			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		607093	26431	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
141092	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Grossmann, R.  et al. 2002	12439143				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood coagulation & fibrinolysis. 2002 Oct;13(7):583-90	Genetic risk factors in young adults with 'cryptogenic' ischemic cerebrovascular disease		607093	26432	2	2002	In conclusion, in younger adults the FVL mutation is a risk factor for cerebrovascular disease. FIIM, the MTHFR TT677 genotype and the CBS 844ins68 mutation did not contribute to the risk in this group of patients. The EPCR 4031ins23 mutation is very rare, its possible role needs further investigation.	Control:186 healthy age-matched and sex-matched blood donors;Case:93 patients younger than 50 years old with thromboembolic strokes or transient ischemic:attacks										
141093	N	cancer; thromboembolism, venous	CANCER	CAN	Neoplasms|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Ramacciotti, E.  et al. 2003	12757770				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis research. 2003 Feb;109(4):171-4	Prevalence of factor V Leiden, FII G20210A, FXIII Val34Leu and MTHFR C677T polymorphisms in cancer patients with and without venous thrombosis		607093	26433	2	2003	The present data do not point to an association between the four polymorphisms here investigated and the risk of VTE in cancer patients.	Cohort 211 unrelated and unselected patients (M/F ratio 0.5, mean age 57 years, range 12-91 years) with a diagnosis of cancer Sao Paulo, Brazil 										
141094		intrauterine growth retardation	REPRODUCTION	REP	Fetal Growth Retardation	1	1p36.3	MTHFR	11768373	11788702		Infante-Rivard, C.  et al. 2005	16192348				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Canada	CDC GDPinfo	4524	Hs.214142			American journal of epidemiology. 2005 Nov;162(9):891-7	Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns		607093	26434	2	2005												
141095	N	placental vascular complications	HEMATOLOGICAL	HEM	Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Abruptio Placentae|Pregnancy Complications, Cardiovascular|Pregnancy Complications, Hematologic|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Camilleri, R. S.  et al. 2004	15091001				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood coagulation & fibrinolysis. 2004 Mar;15(2):139-47	-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications.		607093	26435	2	2004	These data suggest that factor V Leiden is associated with an increased risk of obstetric complications, but that the -455A allele of beta-fibrinogen, PGM and MTHFR do not appear to be implicated.	Control:100 parous women with no history of obstetric or medical complications;Case:147 women with obstetric complications associated with placental vascular disease										
141096	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Moore, L. E.  et al. 2004	15219943				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Argentina	CDC GDPinfo	4524	Hs.214142			Cancer letters. 2004 Aug;211(2):199-207	Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina.		607093	26436	2	2004	The MTHFR 677 CT and TT polymorphisms appeared protective against bladder cancer.	Case:106 bladder cancer cases;Control:109:controls	smoking (tobacco)									
141097		retinal vascular occlusion	OTHER	OTH	Retinal Vein Occlusion	1	1p36.3	MTHFR	11768373	11788702		Dodson, P. M.  et al. 2003	12928694				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Eye (London, England). 2003 Aug;17(6):772-7	The platelet glycoprotein Ia/IIa gene polymorphism C807T/G873A: a novel risk factor for retinal veinocclusion.		607093	26437	2	2003	These results suggest a major role for GpIa/IIa polymorphisms in the pathogenesis of RVO.	Case patients with retinal vasular occlusion;Control:controls										
141098		preeclampsia; hypertension, gestational	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Hematologic|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Morrison, E. R.  et al. 2002	12038776				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2002 May;87(5):779-85	Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: resultsfrom a large population-based study and systematic review.		607093	26438	2	2002	We conclude that  these prothrombotic genotypes are not associated with the development of PE or GH in our population. The systematic review supports our conclusion, for all but cases of severe disease. which appear to be associated with FVL and, to a lesser extent, MTHFR C677T. There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension.	Control:303/164 women with gestational hypertension (n=303), and control women (n=164);Case:404 women who developed preeclampsia										
141099	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	1	1p36.3	MTHFR	11768373	11788702		Hohlagschwandtner, M.  et al. 2003	12738509				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Fertility and sterility. 2003 May;79(5):1141-8	Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage.		607093	26439	2	2003	Our data fall short of showing any significant association between single polymorphisms of the MTHFR, the Factor V Leiden, the Factor II Prothrombin, the HPA 1 and APO B genes or combinations of these polymorphisms and the occurrence of IRM.	Control:101 healthy postmenopausal women with at least two live births and no history of pregnancy loss;Case:145 women with a history of three or more consecutive pregnancy losses before 20 weeks gestation										
141100		polycystic ovary syndrome; pregnancy loss, recurrent	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Blood Coagulation Disorders|Hyperinsulinism|Insulin Resistance|Recurrence|Body Weight	1	1p36.3	MTHFR	11768373	11788702		Glueck, C. J.  et al. 2003	14669168				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Metabolism:  clinical and experimental. 2003 Dec;52(12):1627-32	Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrentpregnancy loss.		607093	26440	2	2003	The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.	Control:116 healthy Caucasian females;Case:33/16 Caucasian women referred for diagnosis and treatment of polycystic ovary syndrome (PCOS) subsequently found to have recurrent pregnancy loss (n=33) and women referred for recurrent pregnancy loss but no PCOS (n=16)										
141102		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			11963567				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		607093	27108	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
141103	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		De Maat, M. P.  et al. 2004	15333035			coding sequence	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of thrombosis and haemostasis. 2004 Sep;2(9):1588-93	Preeclampsia and its interaction with common variants in thrombophilia genes	1801133	607093	27109	2	2004	We found no differences in the prevalence of genetic risk factors of thrombosis in women with preeclampsia compared with controls, which makes it unlikely that these polymorphisms are risk factors for preeclampsia.	Control:157 women with uncomplicated pregnancy;Case:157 women with preeclampsia										
141104		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1p36.3	MTHFR	11768373	11788702		Pongracz, E.  et al. 2002	12122980				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Europe|Hungary	CDC GDPinfo	4524	Hs.214142			Ideggyogy Sz. 2002 Mar;55(4-Mar):111-7	[Genetics of blood coagulation in young stroke patients]		607093	27110	2	2002	 Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.	Control:173 healthy blood donors;Case:253 patients with stroke										
141105		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Houlston, R. S.  et al. 2001	11487538				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Gastroenterology. 2001 Aug;121(2):282-301	Polymorphisms and colorectal tumor risk		607093	27111	2	2001	 APC-I1307K, HRAS1-VNTR, and MTHFR variants represent the strongest candidates for low penetrance susceptibility alleles identified to date. Although their genotypic risks are modest, their high frequency in the population implies that they may well have considerable impact on colorectal cancer incidence. Determining precise risk estimates associated with other variants and gene-gene and gene-environment interactions will be contingent on further studies with sample sizes larger than typically used to date.	Studies 50 on the effect of common alleles of 13 genes on risk for colorectal cancer 										
141106		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36.3	MTHFR	11768373	11788702		Bosco, P.  et al. 2004	15201366				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Italy	CDC GDPinfo	4524	Hs.214142			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		607093	27112	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
141107		pregnancy loss, recurrent; fetal loss	REPRODUCTION	REP	Abortion, Spontaneous|Thrombophilia|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Gerhardt, A.  et al. 2005	15630502				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Thrombosis and haemostasis. 2005 Jan;93(1):124-9	The polymorphism of platelet membrane integrin alpha2beta1 (alpha2807TT) is associated with premature onset of fetal loss.		607093	27113	2	2005	This study demonstrates a significant association of the alpha(2)807TT genotype of the platelet membrane integrin alpha(2)beta(1) with premature onset of early fetal loss. It appears that this risk factor does not induce the pathomechanism, but modulates the course of fetal loss. Furthermore, our study confirms the association of FVL with late fetal loss.	Case:104 women with fetal loss, including women with recurrent early fetal loss (n=34);Control:277 normal women										
141108		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sudden|Thromboembolism|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Rudack, C.  et al. 2004	15109703				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Hearing research. 2004 May;191(2-Jan):41-8	Platelet GPIaC807T polymorphism is associated with negative outcome of sudden hearing loss.		607093	27114	2	2004	The single-nucleotide polymorphism of GPIa C807T seems to play a role as a prognostic factor in recovery from sudden hearing loss.	Control:85 healthy control subjects of the same ethnic:background;Case:85 patients with sudden hearing loss										
141109		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Shaw, G. M.  et al. 2005	16100725				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		California	CDC GDPinfo	4524	Hs.214142			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		607093	27115	2	2005			smoking (tobacco), maternal									
141110		coronary artery disease	CARDIOVASCULAR	CARD	Intracranial Embolism|Cardiovascular Diseases|Coronary Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Wu, A. H.  et al. 2001	11397354				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The American journal of cardiology. 2001 Jun;87(12):1361-6	Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases.		607093	27116	2	2001	This study shows that for some genes, further studies are unnecessary, whereas for others, no more enrollments are needed. The impact of certain genotypes must be examined in relation to other established risk factors and potentially new therapeutic strategies.	studies clinical studies that examined the role of single nucleotide polymorphisms in coagulation and platelet factors, and a biochemical factor 										
141111		obesity; retinal vascular occlusion	METABOLIC	MET	Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Xenophontos, S. L.  et al. 2002	12518110				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Greek	Cyprus	CDC GDPinfo	4524	Hs.214142			International angiology. 2002 Dec;21(4):322-9	Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population		607093	27117	2	2002	 As in other European populations, prospective case-control studies to estimate the risk for deep vein thrombosis (DVT) and ischemic episodes with respect to genetic and environmental risk factors should be performed. Thrombophilia screening should be applied for primary and secondary prevention of thrombotic episodes in susceptible individuals on the island of Cyprus. Individuals targeted for such screening include those with the following: a positive family history for thrombosis; a previous DVT or other ischemic episode; prior exposure to circumstantial risk factors and in the presence of echolucent plaques.	Cohort 121 unrelated individuals Cyprus, Greece 										
141112		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Falchi, A.  et al. 2005	16248996				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Corsica	France	CDC GDPinfo	4524	Hs.214142			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		607093	27118	2	2005												
141113		lipids	METABOLIC	MET	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Pisciotta, L.  et al. 2003	14650352				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Nutrition, metabolism, and cardiovascular diseases. 2003 Aug;13(4):202-10	Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.		607093	27119	2	2003	 Extended high-intensity PA in men aged over 40 years may modify their metabolic cardiovascular risk factors even in the presence of some unfavourable genotypes.	Case:100 men aged over 40 years who cycle 120-150 Km/week;Control:100 age-matched sedentary control	physical activity									
141114		longevity	AGING	AGE		1	1p36.3	MTHFR	11768373	11788702		Xia, Y.  et al. 2003	12889841				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	French		CDC GDPinfo	4524	Hs.214142			Aging clinical and experimental research. 2003 Apr;15(2):111-6	Effect of six candidate genes on early aging in a French population.		607093	27120	2	2003	 Triglyceride concentration and paraoxonase gene and activities may contribute to the aging process. Taking into account the smallness of the sample size, and the poor level of significance due to the im-plication of paraoxonase polymorphism at codon 192, these results need to be verified in further studies on a greater number of subjects.	Cohort 256 healthy Caucasian men (69.8 +/- 4.0 years) 										
141115		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Casas, J. P.  et al. 2004	15534175				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		607093	27556	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
141116		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	1	1p36.3	MTHFR	11768373	11788702		Ozbek, N.  et al. 2005	15831156				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		607093	27557	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
141117	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Sanyal, S.  et al. 2003	14688016				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Carcinogenesis. 2004 May;25(5):729-34	Polymorphisms in DNA repair and metabolic genes in bladder cancer.		607093	27558	2	2003	The variant allele homozygote genotype for the T/C polymorphism in exon 1 of the H-ras gene was associated with a decreased risk for bladder cancer. The variant allele genotypes for the SNPs in DNA repair genes, XPG and NBS1, showed a marginal association with the occurrence of bladder cancer. We also report a positive correlation between the null homozygote of GSTT1 with the risk of bladder cancer. For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val, and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype distributions and allele frequencies between the bladder cancer cases and the controls were observed in the present study.	Case bladder cancer patients:Sweden;Control:controls										
141118		longevity	AGING	AGE		1	1p36.3	MTHFR	11768373	11788702		Stessman, J.  et al. 2005	15621215				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Mechanisms of ageing and development. 2005 Feb;126(2):333-9	Candidate genes associated with ageing and life expectancy in the Jerusalem longitudinal study.		607093	27559	2	2005	Overall, the more genetically homogenous Ashkenazi ethnic group showed evidence for association in five genes examined suggesting that future studies in this population would gainfully focus on this ethnic group.	Case:224 older (75 years) Jewish individuals of Ashkenazi:ethnicity:Jerusalem, Isreal;Control:441 younger subjects (22 years)										
141119		thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	1	1p36.3	MTHFR	11768373	11788702		Carlsson, L. E.  et al. 2003	12724616				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Pharmacogenetics. 2003 May;13(5):253-8	Platelet receptor and clotting factor polymorphisms as genetic risk factors for thromboembolic complications in heparin-induced thrombocytopenia.		607093	27560	2	2003	The enhanced risk of women to develop HIT-associated TECs remains unexplained but it is potentially important in view of recent data on sex-hormone related changes of haemostasis. There was no correlation between platelet glycoprotein- and clotting factor polymorphisms and the risk to develop HIT-associated TECs. An association between the development of TECs and the Kozak-5C allele could be seen among male patients. However, this would need to be assessed in further larger studies. Most likely, the high levels of thrombin generation during acute HIT are so procoagulant that less pronounced risk factors such as polymorphisms are overshadowed.	Control:63 heparin-induced thrombocytopenia patients with isolated thrombocytopenia;Case:79 heparin-induced thrombocytopenia patients with thromboembolic complications										
141120	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Volzke, H.  et al. 2004	12899665				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		607093	27561	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
141121		longevity	CARDIOVASCULAR	CARD	Vascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Hessner, M. J.  et al. 2001	11568114				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical chemistry. 2001 Oct;47(10):1879-84	Age-dependent prevalence of vascular disease-associated polymorphisms among 2689 volunteer blood donors.		607093	27562	2	2001	 These data suggest that Pl(A2) carriers, especially those who are ACE DD, are statistically less prevalent among older healthy blood donors compared with their younger counterparts. These observations suggest an important, deleterious, time-dependent impact of the Pl(A2) allele, as well as the ACE DD/Pl(A2) allelic combination, on overall health and longevity.	Cohort 2689 healthy Caucasian whole-blood donors 										
141122		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	1	1p36.3	MTHFR	11768373	11788702		Murray, J. C.   2002	12030886				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		607093	27563	2	2002	Review article											
141123		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Festa, F.  et al. 2005	15914210				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Mutation research. 2005 Jul;574(2-Jan):105-11	Basal cell carcinoma and variants in genes coding for immune response, DNA repair, folate and iron metabolism.		607093	27795	2	2005												
141124		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Pallaud, C.  et al. 2001	11359462				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Clinical genetics. 2001 May;59(5):316-24	APOC3, CETP, fibrinogen, and MTHFR are genetic determinants of carotid intima-media thickness in healthy men (the Stanislas cohort).		607093	27969	2	2001	Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population, aged 35-54 selected from the Stanislas Cohort France 										
141125		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Pallaud, C.  et al. 2001	11575217				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	French		CDC GDPinfo	4524	Hs.214142			Archives des maladies du coeur et des vaisseaux. 2001 Aug;94(8):851-4	Article in French-APOC3, CETP, beta-fibrinogen and MTHFR are genetic determinants of carotid intim-media thickness (Stanislas cohort)]		607093	27970	2	2001	The most interesting finding was that altogether these genes in men were able to explain a considerable part, 20.6%, of CIMT variability. Therefore, our study gives a new opportunity to understand CIMT variability.	Cohort 161 individuals from a healthy population (77 men and 84 women), aged 35-54 years and selected from a 										
141126	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			12615788				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Circulation. 2003 Mar;107(8):1117-22	No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.		607093	27971	2	2003	 This study provides no evidence supporting an association between 9 polymorphisms of genes encoding proteins involved in hemostasis and the occurrence of premature myocardial infarction or protection against it.	Case:1210 patients who had survived a first myocardial infarction at an age of <45 years who underwent coronary arteriography in 125 coronary care units;Control:1210 healthy subjects matched for age, sex, and geographical origin										
141127		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		French, J. K.  et al. 2003	12514663				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		607093	27972	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
141128		fetal loss, late	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Hefler, L.  et al. 2004	14706682				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		607093	28089	2	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
141130		lipid metabolism	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Pallaud, C.  et al. 2001	11714857				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		607093	28173	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
141131		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Cacabelos, R.   2002	12452480				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		607093	28174	2	2002	Review article											
141132		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Xing, D.  et al. 2003	12883749				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	CDC GDPinfo	4524	Hs.214142			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		607093	28175	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
141133		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Starinsky, S.  et al. 2004	15523694				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Israel	CDC GDPinfo	4524	Hs.214142			International journal of cancer. Journal international du cancer. 2005 Mar;114(1):58-73	Genotype phenotype correlations in Israeli colorectal cancer patients.		607093	28176	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
141134		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		De Jong, M. M.  et al. 2002	12433710				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		607093	28245	2	2002	Review article											
141135		blood pressure, arterial	CARDIOVASCULAR	CARD		1	1p36.3	MTHFR	11768373	11788702		Sass, C.  et al. 2004	15076187				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of hypertension. 2004 Feb;22(2):297-304	Genetic influences on blood pressure within the Stanislas Cohort		607093	28246	2	2004	 The APOC3, LPL and GpIIIa genes were found to be associated with BP levels. The contributions of these genes, although modest, are consistent with the polygenic nature of BP levels.	Cohort 776/836 men (n=776) and women (n=836) free of antihypertensive and lipid-lowering medications from the Stanislas Cohort France 										
141136		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Sachse, C.  et al. 2002	12419832				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		England	CDC GDPinfo	4524	Hs.214142			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		607093	28301	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
141137		atherosclerosis, coronary	CARDIOVASCULAR	CARD		1	1p36.3	MTHFR	11768373	11788702		Ortlepp, J. R.  et al. 2002	12446192				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			European journal of internal medicine. 2002 Dec;13(8):485-492	Analysis of several hundred genetic polymorphisms may improve assessment of the individual genetic burden for coronary artery disease.		607093	28302	2	2002	 An increasing number of risk alleles are associated with an elevated risk for CAD. An analysis of multiple polymorphisms, some several hundred, each with a small impact, may allow improved assessment of the individual genetic burden for CAD. Larger studies are needed to prove this hypothesis.	Case:100 catients with angiographically proven coronary artery disease from a pool of 1038;Control:100 pateints in whom coronary angiography demonstrated coronary arteries wihtout any signs of:atherosclerosis										
141138		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p36.3	MTHFR	11768373	11788702		Prince, J. A.  et al. 2001	11436125				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Sweden	CDC GDPinfo	4524	Hs.214142			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		607093	28303	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
141139		myocardial infarct; cholesterol, HDL; triglycerides; atherosclerosis, coronary; macular degeneration; colorectal cancer	CANCER	CAN	Cardiovascular Diseases	1	1p36.3	MTHFR	11768373	11788702		Pallaud, C.  et al. 2001	11341749				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		France|Italy	CDC GDPinfo	4524	Hs.214142			Clinical chemistry and laboratory medicine. 2001 Feb;39(2):146-54	Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies betweena French and an Italian population.		607093	28346	2	2001	Five allele frequencies differed between the two European countries. The other allele frequencies were similar between the two populations. They were also similar to those observed in other European countries.	Cohort 1480 individuals from the French population France Cohort 162 individuals from the Italian population Italy 										
141140		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Adams, G. T.  et al. 2003	12871600				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		607093	28415	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
141141		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Landi, S.  et al. 2005	16006997				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		607093	28505	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
141142		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	1	1p36.3	MTHFR	11768373	11788702		Navarro-Lopez, F.   2002	11975906				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		607093	28550	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
141143		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	1	1p36.3	MTHFR	11768373	11788702		Zee, R. Y.  et al. 2002	12082592				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		607093	28660	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
141144	N	plasma homocysteine	CARDIOVASCULAR	CARD	Hyperhomocysteinemia	1	1q43	MTR	235025340	235130583	n	Jacques PF 2003	12482550				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	subjects from NHLBI Family Heart Study		KEW	4548	Hs.498187			Atherosclerosis. 2003 Jan;166(1):49-55	Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.		156570	7404	1	2003	There was no significant interaction between MTR and MTRR genotype or between these genotypes and any of the vitamins with respect to homocysteine concentrations. This study provides no evidence that these common MTR and MTRR mutations are associated with alterations in plasma homocysteine.	Cohort subjects from two of the NHLBI Family Heart Study field centers, Framingham and Utah Massachusetts, Utah								N		
141145		colorectal adenoma	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1q43	MTR	235025340	235130583		Goode EL 2004	14744749	D919G			5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Minnesota	KGB	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):157-62	Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk.		156570	7405	1	2004	No evidence of interaction with intake of folate, vitamin B(12), or vitamin B(6) or with genotype at MTHFR C677T or the TS enhancer region 28-bp repeat polymorphism was seen. These findings add to what is known about the complexities of genetic variations in one-carbon-metabolizing enzymes in relation to colorectal carcinogenesis.	Case:513 colorectal cancer cases:Minneapolis, MN;Control:609:controls										
141146		myocardial infarction; folate; homocysteine	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Chen, J.  et al. 2001	11257268	(D919G)			5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Atherosclerosis. 2001 Feb;154(3):667-72	Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction.		156570	12575	2	2001	It was concluded that influence of the MS (D919G) polymorphism on the plasma tHcy and folate levels is at most moderate, but should be further investigated in other large prospective studies.	Case:387 incident MI;Control:767 controls matched on age, smoking status, and time from randomization in 6-month intervals										
141147	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	1	1q43	MTR	235025340	235130583		Goode, E. L.  et al. 2004	14744749	D919G			5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Minnesota	CDC GDPinfo	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):157-62	Methionine synthase D919G polymorphism, folate metabolism, and colorectal adenoma risk.		156570	12578	2	2004	No evidence of interaction with intake of folate, vitamin B(12), or vitamin B(6) or with genotype at MTHFR C677T or the TS enhancer region 28-bp repeat polymorphism was seen. These findings add to what is known about the complexities of genetic variations in one-carbon-metabolizing enzymes in relation to colorectal carcinogenesis.	Case:513 colorectal cancer cases:Minneapolis, MN;Control:609:controls										
141148	Y	hypertension	CARDIOVASCULAR	CARD		1	1q43	MTR	235025340	235130583		Zhang, Y.  et al. 2004	15148588	D919G			5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Chinese		CDC GDPinfo	4548	Hs.498187			Journal of human genetics. 2004 ;49(6):296-301	D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.		156570	12579	2	2004	Our finding suggests that the D919G polymorphism of the MTR gene may be a useful genetic marker to predict the antihypertensive effect of short-term benazepril therapy in hypertensive patients of Anhui Province, China.	Cohort 726 hypertensive patients who took benazepril 10 mg once a day for 15 days and their families Huoqiu county of Anhui Province, China 	benazepril									
141149	N	homocysteine	CARDIOVASCULAR	CARD	Hyperhomocysteinemia	1	1q43	MTR	235025340	235130583		Jacques, P. F.  et al. 2003	12482550				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Atherosclerosis. 2003 Jan;166(1):49-55	Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.		156570	12582	2	2003	There was no significant interaction between MTR and MTRR genotype or between these genotypes and any of the vitamins with respect to homocysteine concentrations. This study provides no evidence that these common MTR and MTRR mutations are associated with alterations in plasma homocysteine.	Cohort subjects from two of the NHLBI Family Heart Study field centers, Framingham and Utah Massachusetts, Utah 								N		
141150	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Zhu, H.  et al. 2003	12649067				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Molecular genetics and metabolism. 2003 Mar;78(3):216-21	Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.		156570	12583	2	2003	Our results indicate that MTRR and MTR genes may interact to increase the infants' NTD risks. These results did not appear to be influenced by maternal periconceptional folic acid intake. However,the sample size of this study was limited, and a larger population study is needed to pursue these initial observations.	Case neural tube defect infants and their mothers;Control normal controls		MTR	A2756G	MTRR	A66G			Y		Neural Tube Defects
141151	Y	Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome|Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Bosco, P.  et al. 2003	12923861				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Sicily	CDC GDPinfo	4548	Hs.498187			American journal of medical genetics Part A. 2003 Sep;121(3):219-24	Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome		156570	12587	2	2003	In conclusion, our results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily.	Control:140 control subjects;Control:72 age-matched control mothers;Case:73 case mothers;Case:92 Down syndrome cases:Sicily										
141152		recurrent cardiovascular event	UNKNOWN	UNK	Myocardial Infarction|Genetic Predisposition to Disease|Recurrence	1	1q43	MTR	235025340	235130583		Hyndman, M. E.  et al. 2000	11074217				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			The American journal of cardiology. 2000 Nov;86(10):1144-6, A9	Effect of heterozygosity for the methionine synthase 2756 A-->G mutation on the risk for recurrent cardiovascular events.		156570	18402	2	2000	This mutation significantly reduced the risk for recurrent cardiovascular events and elevated red blood cell folate levels.											
141153	Y	body mass; cholesterol, HDL; insulin; folate; homocysteine	METABOLIC	MET	Hypertension|Insulin Resistance|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Kahleova, R.  et al. 2002	12372672				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			American journal of hypertension. 2002 Oct;15(10 Pt 1):857-64	Essential hypertension in adolescents: associationwith insulin resistance and with metabolism of homocysteine and vitamins.		156570	18404	2	2002	 Our study showed that essential hypertension in adolescents is associated with lower folate and higher homocysteine levels, and with signs of insulin resistance. These data suggest that hypertension in young individuals may be a part of early manifestation of insulin resistance syndrome, and that disturbed folate and homocysteine metabolism may play a role in the early stages of hypertension.	Case:164 essential juvenile hypertension patients;Control:173:controls										
141154		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Johanning, G. L.  et al. 2000	11186937				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Journal of medical genetics. 2000 Dec;37(12):949-51	Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects.		156570	23017	2	2000	In conclusion, our data support previous studies suggesting that the C677T mutation in MTHFR is associated with increased risk for NTDs. Although a common polymorphism in the MS gene was not a strong risk factor for NTDs, associations between MTHFR and MS polymorphisms slightly increased the risk. Further research is warranted to evaluate comorbidity of MTHFR and MS polymorphisms in a large population.	Case:84 amniotic fluid samples from women with fetuses with confirmed NTDs;Control:84 amniotic fluid samples from women with normal:pregnancies										
141155		lymphoma, malignant	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Matsuo, K.  et al. 2001	11342450				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Blood. 2001 May;97(10):3205-9	Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma.		156570	23018	2	2001	Unconditional logistic regression analyses revealed a higher susceptibility with the MTHFR677 CC and the MTHFR1298 AA genotypes when those harboring at least one variant allele in either polymorphism of MTHFR were defined as the reference. For the MS polymorphism, the MS2756 GG genotype also showed a higher susceptibility than those with MS2756 AA or AG types. The significance was not altered when these 3 polymorphisms were evaluated in combination, and the results suggest that folate and methionine metabolism play important roles in the occurrence of malignant lymphomas. Further studies to confirm the association and detailed biologic mechanisms are now required.	Control:243 control subjects without cancer;Case:98 patients with histologically confirmed lymphoma										
141156		myocardial infarction; folate; homocysteine	CARDIOVASCULAR	CARD		1	1q43	MTR	235025340	235130583		Adjalla, C. E.  et al. 2003	12964809				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Caucasian		CDC GDPinfo	4548	Hs.498187			Clinical chemistry and laboratory medicine. 2003 Aug;41(8):1028-32	Low frequency of mutated methylenetetrahydrofolate reductase 677C-->T and 1298A-->C genetics single nucleotide polymorphisms (SNPs) in Sub-Saharan populations.		156570	23019	2	2003	In conclusion, the MTHFR 677TTor 1298CC genotypes are much rarer in Africans than in Caucasians. The 677TT low frequency may be related to the high effect of this mutation on homocysteine metabolism in the environmental conditions of this African region.	Cohort 240 subjects recruited in West Africa 										
141157	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1q43	MTR	235025340	235130583		Ulvik, A.  et al. 2004	15598777				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Norway	CDC GDPinfo	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2175-80	Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-controlpairs from the JANUS cohort.		156570	23020	2	2004	In summary, we found significantly reduced risk of colorectal cancer in subjects with the MTHFR 677 TT and MTR 2756 GG genotypes. No interaction between the polymorphisms, or of either polymorphism with tHcy, was detected.	Case:2,168 colorectal cancer cases from the Norwegian JANUS cohort of 309,000 subjects;Control:2,168 controls from the Norwegian JANUS cohort of 309,000:subjects										
141158	N	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1q43	MTR	235025340	235130583		Yang, C. X.  et al. 2005	15790587				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Japan	CDC GDPinfo	4548	Hs.498187			Carcinogenesis. 2005 Jul;26(7):1285-90	Gene-environment interactions between alcohol drinking and the MTHFR C677T polymorphism impact on esophageal cancer risk: results of a case-controlstudy in Japan.		156570	23021	2	2005	Folate consumption and MTHFR 677TT were associated with a non-significant tendency for decreased risk while the MTR genotypes did not show any links in themselves; further, when analysis was limited to heavy drinkers, the MTHFR TT genotype significantly decreased esophageal cancer risk (odds ratio	Case:165 esophageal cancer cases;Control:495 non-cancer controls	alcohol folate smoking (tobacco)									
141159	Y	homocysteine	METABOLIC	MET	Kidney Diseases	1	1q43	MTR	235025340	235130583		Feix, A.  et al. 2001	11684547				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			American journal of kidney diseases. 2001 Nov;38(5):956-64	Increased prevalence of combined MTR and MTHFR genotypes among individuals with severely elevated total homocysteine plasma levels		156570	23022	2	2001	In summary, our study shows that the 2756A-->G transition of MTR in combination with MTHFR 677TT/1298AA and 677CT/1298AC can be associated with extremely high tHcy plasma levels.	Case:179 peritoneal dialysis patients;Control:389 healthy subjects;Case:415 hemodialysis patients;Case:733 kidney graft recipients										
141161		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1q43	MTR	235025340	235130583		O'leary, V. B.  et al. 2005	15979034				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Molecular genetics and metabolism. 2005 Jul;85(3):220-7	Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.		156570	23024	2	2005												
141162		hyperhomocystinemia	METABOLIC	MET	Hyperhomocysteinemia	1	1q43	MTR	235025340	235130583		Geisel, J.  et al. 2001	11592436				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Clinical chemistry and laboratory medicine. 2001 Aug;39(8):698-704	Genetic defects as important factors for moderate hyperhomocysteinemia.		156570	23025	2	2001	In summary, larger and homogeneous study populations are necessary to quantify the small effects of common mutations on homocysteine levels. This may also be the reason that no effects of genetic interactions between two genotypes were observed.	Cohort 280 subjects of different age groups 										
141163		atherosclerosis, coronary; homocysteine	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Gueant-Rodriguez, R. M.  et al. 2005	16268464				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	French		CDC GDPinfo	4548	Hs.498187			Thrombosis and haemostasis. 2005 Sep;94(3):510-5	Association of MTRRA66G polymorphism (but not of MTHFR C677T and A1298C, MTRA2756G, TCN C776G) with homocysteine and coronary artery disease in the French population.		156570	23026	2	2005												
141164		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1q43	MTR	235025340	235130583		Little, J.  et al. 2002	11917217				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		United States	CDC GDPinfo	4548	Hs.498187			European journal of cancer prevention. 2002 Feb;11(1):105-10	Colorectal neoplasia and genetic polymorphisms associated with folate metabolism		156570	23027	2	2002	Review article		folate									
141165		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1q43	MTR	235025340	235130583		Skibola, C. F.  et al. 2004	15198953				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Blood. 2004 Oct;104(7):2155-62	Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma.		156570	23028	2	2004	The associations of DLCL and FL with TYMS 1494del6 and MTHFR 677TT genotypes, respectively, suggest that folate metabolism may play an important role in the pathogenesis of specific subtypes of NHL.	Control:controls;Case non-Hodgkin lymphoma cases San Francisco Bay Area, US:1988 - 1995										
141166		colon cancer	CANCER	CAN	Adenoma|Colonic Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Ulrich, C. M.  et al. 2005	16284371				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2509-16	Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer.		156570	23029	2	2005			diet									
141167		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1q43	MTR	235025340	235130583			16365025				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2999-3003	Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes		156570	23030	2	2005												
141168		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1q43	MTR	235025340	235130583		Matsuo, K.  et al. 2005	16051637				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Japan	CDC GDPinfo	4548	Hs.498187			Carcinogenesis. 2005 Dec;26(12):2164-71	One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan.		156570	23031	2	2005			alcohol folate									
141169		esophageal cancer	CANCER	CAN	Neoplasms, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Sarbia, M.  et al. 2005	16333305				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			British journal of cancer. 2006 Jan;94(2):203-7	The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma		156570	23032	2	2005			5-flurouracil									
141170		homocysteine	METABOLIC	MET		1	1q43	MTR	235025340	235130583		Dekou, V.  et al. 2001	11204591				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Thrombosis and haemostasis. 2001 Jan;85(1):67-74	Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men.		156570	25316	2	2001	This interaction between CBS genotype and MTHFR and MS genotype points to a key role of the CBS transulphuration pathway in the metabolism of homocysteine that may be particularly important as a compensatory mechanism in subjects with low dietary folate.	Control:1,470 Healthy middle-aged men from eight general practices across Britain:Britain	folate smoking (tobacco) Vitamin B12									
141172		homocysteine	METABOLIC	MET	Hyperhomocysteinemia|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Kluijtmans, L. A.  et al. 2003	12642343				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Blood. 2003 Apr;101(7):2483-8	Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.		156570	25318	2	2003	Our study indicates that dietary factors are centrally important in the control of tHcy levels in young adults with additional, but somewhat weaker, genetic effects. These data underscore the potential benefits that may be gained by improving the dietary status of young adults, and provide support for the implementation of folate/B-vitamin food fortification programs.	Cohort 452 young adults 	folate Vitamin B12									
141173		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	1	1q43	MTR	235025340	235130583		Krajinovic, M.  et al. 2005	16013960				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Pharmacogenomics. 2005 Apr;6(3):293-302	Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.		156570	25319	2	2005			radiation									
141175		drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	1	1q43	MTR	235025340	235130583		de Jonge, R.  et al. 2005	15797993				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		156570	25322	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
141176	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q43	MTR	235025340	235130583		Bosco, P.  et al. 2004	15201366				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Italy	CDC GDPinfo	4548	Hs.498187			Journal of neurology, neurosurgery, and psychiatry. 2004 Jul;75(7):1036-8	Association of IL-1 RN*2 allele and methionine synthase 2756 AA genotype with dementia severity of sporadic Alzheimer's disease.		156570	27565	2	2004	 Distinct determinants of the IL-1 gene cluster are related to the generation and progression of Alzheimer's disease. MTR only influences progression of the disease, which may be enhanced by carriage of allele epsilon4 of APO-E.	Control:136:controls;Case:152 patients with Alzheimer's disease										
141177		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		De Jong, M. M.  et al. 2002	12433710				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDPinfo	4548	Hs.498187			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		156570	28304	2	2002	Review article											
141178	N	Asthma	IMMUNE	IMM	Lung Diseases	11	11p15.5	MUC5AC	1169665	1178941	n	Vinall 2000	11062147	VNTR polymorphism			mucin 5, subtypes A and C, tracheobronchial/gastric				KCB	4586	Hs.534332			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86			158373	4619	1	2000												
141179		asthma; atopy	IMMUNE	IMM	Lung Diseases	11	11p15	MUC5AC	1169665	1178941		Vinall, L. E.  et al. 2000	11062147				Mucin 5, subtypes A and C, tracheobronchial/gastric				CDC GDPinfo	4586	Hs.534332			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		158373	26454	2	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
141180	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Lung Neoplasms	1	1p34.2	MYCL1	40133684	40140274		Champeme MH et al. 1992	1345822				homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			KGB	4610	Hs.437922			International journal of cancer. Journal international du cancer. 1992 Jan;50(1):9-Jun	Association between restriction fragment length polymorphism of the L-myc gene and lung metastasis in human breast cancer.		164850	4635	1	1992												
141181	Y	gastric cancer	CANCER	CAN	Stomach Neoplasms|Neoplasm Recurrence, Local|Disease Susceptibility	1	1p34.2	MYCL1	40133684	40140274		Shibuta K et al. 1998	9635822				v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			KGB	4610	Hs.437922			The British journal of surgery. 1998 May;85(5):681-4	Association between restriction fragment length polymorphism of the L-myc gene and susceptibility to gastric cancer.		164850	4636	1	1998	 L-myc polymorphism may be significant in an individual's susceptibility to gastric cancer in Japan, and may be a useful marker for identifying patients at high risk of developing gastric cancer.											
141183	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis|Chromosome Deletion	1	1p34.2	MYCL1	40133684	40140274		Young J et al. 1994	7907781				v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			KGB	4610	Hs.437922			Oncogene. 1994 Apr;9(4):1053-6	Association of the SS genotype of the L-myc gene and loss of 18q sequences with a worse clinical prognosis in colorectal cancers.		164850	4638	1	1994												
141184	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Shih, C. M.  et al. 2002	11955646				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			Lung cancer (Amsterdam, Netherlands). 2002 May;36(2):125-32	Association of L-myc polymorphism with lung cancer susceptibility and prognosis in relation to age-selected controls and stratified cases.		164850	12628	2	2002	These data suggest that the S allele of the L-myc polymorphism may be associated with lung cancer progression.	Case:169 lung cancer patients:Taiwan;Control:169 non-cancer controls										
141185	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis	1	1p34.2	MYCL1	40133684	40140274		Yaylim, I.  et al. 2002	12034523				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1	Turkish		CDC GDPinfo	4610	Hs.437922			Cancer genetics and cytogenetics. 2002 Apr;134(2):118-22	Is there any correlation between restriction fragment length polymorphism of the L-MYC gene and metastasis of human nonsmall cell lung cancer?		164850	12629	2	2002	Our data concerning age, sex, size of tumors, histological type of tumors showed no significant association with L-myc genotype. However, a higher frequency of L-myc S allele in the squamous cell carcinoma compared to other histological groups was found, although this difference was not statistically significant. No association was found between the L-myc RFLP and increased risk of metastasis either to the lymph nodes or to other organs. Our results suggested that L-myc gene polymorphism was not a suitable prognostic marker of metastatic development in Turkish NSCLC patients.	Control:37 healthy controls of Turkish origin;Case:64 Turkish nonsmall cell lung cancer (NSCLC) patients										
141186	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Dlugosz, A.  et al. 2002	12439118				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			European journal of gastroenterology & hepatology. 2002 Nov;14(11):1231-5	EcoRI polymorphism of the L-myc gene in gastric cancer patients		164850	12630	2	2002	 Our study suggests that L-myc polymorphism can be a predisposing factor in the development of nodal metastases in stomach cancer patients.	Case:100 gastric cancer patients;Control:65 healthy unrelated individuals										
141187	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Isbir, T.  et al. 2002	12507230				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1	Turkish		CDC GDPinfo	4610	Hs.437922			Cancer detection and prevention. 2002 ;26(6):454-7	Close correlation between restriction fragment length polymorphism of L-myc gene and susceptibility to gastric cancer.		164850	12631	2	2002	 Our results suggested that L-myc polymorphism may be significant in an individual's susceptibility to gastric cancer in Turkey and may be useful for identifying patients at high risk of developing gastric cancer.	Case:25 patients with gastric cancer:Turkey;Control:83 healthy controls										
141189	Y	cancer; lung cancer	CANCER	CAN	Neoplasms|Lung Neoplasms|Disease Progression	1	1p34.2	MYCL1	40133684	40140274		Spinola, M.  et al. 2004	15269151				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			Clinical cancer research. 2004 Jul;10(14):4769-75	Meta-analysis suggests association of L-myc EcoRI polymorphism with cancer prognosis.		164850	12633	2	2004	The meta-analysis suggests that the L-myc EcoRI polymorphism is a marker of tumor prognosis in lung cancer and possibly in other types of cancer.	Control:2,953:controls;Case:3,563 patients with different types of cancer										
141190	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Kumimoto, H.  et al. 2001	11473723				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			Japanese journal of cancer research. 2001 Jul;92(7):735-9	Different susceptibility of each l-myc genotype to esophageal cancer risk factors		164850	18474	2	2001	These results suggested that the L-myc polymorphism might modify the effects of lifestyle factors on esophageal cancer risk.	Control:241 non-cancer outpatients;Case:91 esophageal cancer patients:Japan	alcohol smoking (tobacco)									
141192		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	1	1p34.2	MYCL1	40133684	40140274		Xing, D.  et al. 2003	12883749				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1	Chinese	China	CDC GDPinfo	4610	Hs.437922			Oncology reports. 2003 Sep-Oct;10(5):1615-23	Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review).		164850	28247	2	2003	The overall effects of these genetic polymorphisms were moderate in terms of relative risk, with ORs ranging from 2-10. There was also some evidence that genetic polymorphisms in certain carcinogen-metabolizing enzymes such as CYP2E1, CYP1A1, CYP2A6, GSTM1, and GSTP1 modulate risk of the cancer, although the results require confirmation with larger	Case Chinese esophageal squamous cell carcinoma patients;Control:controls										
141193		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		De Jong, M. M.  et al. 2002	12433710				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		164850	28347	2	2002	Review article											
141194	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis	17	17q21.3	NME1	46585918	46604104		Bafico A et al. 1993	8297127				Non-metastatic cells 1, protein (NM23A) expressed in	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000269.2			KGB	4830	Hs.463456			Anticancer research. 1993 Nov-Dec;13(6A):2149-54	Genomic PCR-SSCP analysis of the metastasis associated NM23-H1 (NME1) gene: a study on colorectal cancer.		156490	7417	1	1993												
141196		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis	17	17q21.3	NME1	46585918	46604104			16317582				Non-metastatic cells 1, protein (NM23A) expressed in	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000269.2	Mexican		CDC GDPinfo	4830	Hs.463456			Breast cancer research and treatment. 2005	EcoRI polymorphism of the metastasis-suppressor gene NME1 in Mexican patients with breast cancer		156490	12699	2	2005												
141197	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6pter-q12	NQO2	2933199	2964993		Harada, S.  et al. 2003	14639047				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1			CDC GDPinfo	4835	Hs.533050			Psychiatric genetics. 2003 Dec;13(4):205-9	A possible association between an insertion/deletion polymorphism of the NQO2 gene and schizophrenia.		160998	12951	2	2003	 The present data suggest that individuals with the deletion of the 29 base pair sequence in the promoter region of the NQO2 gene may confer susceptibility to a certain form of schizophrenia.	Case:102 patients with schizophrenia;Control:234:controls										
141198	Y	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced	6	6pter-q12	NQO2	2933199	2964993		Ohgake, S.  et al. 2005	16191666				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1			CDC GDPinfo	4835	Hs.533050			Addiction biology. 2005 Jun;10(2):145-8	Functional polymorphism of the NQO2 gene is associated with methamphetamine psychosis.		160998	12953	2	2005												
141199	Y	agranulocytosis	HEMATOLOGICAL	HEM	Agranulocytosis	6	6pter-q12	NQO2	2933199	2964993		Ostrousky, O.  et al. 2003	14617031				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1			CDC GDPinfo	4835	Hs.533050			Tissue antigens. 2003 Dec;62(6):483-91	NQO2 gene is associated with clozapine-induced agranulocytosis.		160998	18701	2	2003	Such a reduction in message suggests that the NQO2 gene may be involved in the development of clozapine-induced AGR.	Control:controls;Case:98 schizophrenic patients treated with clozapine	clozapine									
141201	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6pter-q12	NQO2	2933199	2964993		Harada, S.  et al. 2001	11688992				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1			CDC GDPinfo	4835	Hs.533050			Biochemical and biophysical research communications. 2001 Nov;288(4):887-92	An Association between Idiopathic Parkinson's Disease and Polymorphisms of Phase II Detoxification Enzymes: Glutathione S-TransferaseM1 and Quinone Oxidoreductase 1 and 2		160998	25389	2	2001	Our data suggested that the deletion of 29-bp nucleotides in the promoter region of the NQO2 gene associates with the development of PD	Control:100 unrelated healthy volunteers;Case:111 unrelated outpatients with idiopathic PD										
141202	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Hallucinations|Alcohol Withdrawal Delirium|Chromosome Deletion|Disease Susceptibility	6	6pter-q12	NQO2	2933199	2964993		Okubo, T.  et al. 2003	12960511				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1		Japan	CDC GDPinfo	4835	Hs.533050			Alcoholism, clinical and experimental research. 2003 Aug;27(8 Suppl):68S-71S	Association analyses between polymorphisms of the phase II detoxification enzymes (GSTM1, NQO1, NQO2) and alcohol withdrawal symptoms.		160998	25390	2	2003	 Present data suggest that an insertion/deletion polymorphism in the promoter region of the NQO2 gene plays an important role in the pathogenesis of alcoholism and alcohol withdrawal symptoms.	Control:134 age-matched Japanese male controls (nonhabitual:drinkers);Case:247 Japanese male alcoholic patients with alcohol withdrawal symptoms or without the symptoms										
141203		leukemia; leukemia, myelodysplastic (TRLIMDS)	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	6	6pter-q12	NQO2	2933199	2964993		Naoe T  et al. 2000	11051261				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1	Japanese	Japan	CDC GDPinfo	4835	Hs.533050			Clinical cancer research. 2000 Oct;6(10):4091-5	Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia.		160998	27163	2	2000	the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS.	Control:150/411 150 controls (unspecified) and 411 patients with de novo acute myeloid leukemia (AML);Case:58 patients with TRL/MDS										
141204		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17p13.1-q25	NOS2B				Modin, H.  et al. 2001	11525805				nitric oxide synthase 2B				CDC GDPinfo	4844				Journal of neuroimmunology. 2001 Sep;119(1):95-100	No linkage or association of the nitric oxide synthase genes to multiple sclerosis.		600719	25363	2	2001	no significant association or evidence was found for linkage in these data sets.	Control:148 controls not otherwise specified in abstract;Case:192 multiple sclerosis patients (96 										
141205		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17p13.1-q25	NOS2C				Modin, H.  et al. 2001	11525805				nitric oxide synthase 2C				CDC GDPinfo	4845				Journal of neuroimmunology. 2001 Sep;119(1):95-100	No linkage or association of the nitric oxide synthase genes to multiple sclerosis.		600720	26472	2	2001	no significant association or evidence was found for linkage in these data sets.	Control:148 controls not otherwise specified in abstract;Case:192 multiple sclerosis patients (96 "benign" and 96:"severe" )										
141206	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	n	Tiret L 2000	10636255	G+11/ in23T polymorphism			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			163729	7419	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
141207	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609	?	Gardemann A 2002	11755935				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	German	Germany	KGB	4846	Hs.511603			Atherosclerosis. 2002 Jan;160(1):167-75	The T allele of the missense Glu(298)Asp endothelial nitric oxide synthase gene polymorphism is associated with coronary heart disease in younger individuals with high atherosclerotic risk profile.		163729	7420	1	2002	 The present data extends earlier observations by the findings that predominantly younger T allele carriers of the ecNOS Glu(298)Asp gene polymorphism with various coronary high-risk profiles had an increased risk to suffer CAD and/or MI. In contrast, no evidence was found for an association of the ecNOS 4a/b gene polymorphism with coronary heart disease.	Case:2717 German individuals who underwent coronary:angiography;Control:533 healthy German controls										
141208	Y	Cerebral Circulation in Smokers	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Nasreen S 2002	11950698				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Arteriosclerosis, thrombosis, and vascular biology. 2002 Apr;22(4):605-10	T-786C polymorphism in endothelial NO synthase gene affects cerebral circulation in smokers: possiblegene-environmental interaction.		163729	7421	1	2002	This result indicated that the eNOS genotype could modify cerebrovascular circulation in a general population by potentiating the adverse effect of smoking.	Cohort participants of a health examination	smoking (tobacco)									
141209	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609	?	Wang CL 2001	11802531				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Taiwanese		KGB	4846	Hs.511603			Journal of the Formosan Medical Association. 2001 Nov;100(11):736-40	Lack of association between the Glu298Asp variant of the endothelial nitric oxide synthase gene and the risk of coronary artery disease among Taiwanese.		163729	7422	1	2001	 In the present case-control study, we found no evidence of an association between the Glu298Asp variant of the eNOS gene and CAD/MI among Taiwanese.	Case:218 coronary artery disease patients:Taiwan;Control:218 age- and sex- matched control subjects										
141211	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609	n	Wang CL 2001	11802531	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Taiwanese		KGB	4846	Hs.511603			Journal of the Formosan Medical Association. 2001 Nov;100(11):736-40	Lack of association between the Glu298Asp variant of the endothelial nitric oxide synthase gene and the risk of coronary artery disease among Taiwanese.		163729	7424	1	2001	 In the present case-control study, we found no evidence of an association between the Glu298Asp variant of the eNOS gene and CAD/MI among Taiwanese.	Case:218 coronary artery disease patients:Taiwan;Control:218 age- and sex- matched control subjects										
141212		Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lee 2000	11030378	ecNOSintron			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KCB	4846	Hs.511603			Allergy. 2000 Oct;55(10):959-63			163729	7425	1	2000	 These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of asthma. However, the severity of asthma may not be influenced by polymorphisms of the ecNOS and ACE genes.											
141213	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	0.02	Hyndman ME 2002	11967250	T-786-->C	Nakayama et al.7 using a luciferase reporter construct. demonstrated that the C/C genotype was associated with a 52% and 62% decrease in promoter activity under normoxic and hypoxic conditions. respectively. compared with the wild-type promoter sequence.	5`promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Hypertension. 2002 Apr;39(4):919-22	The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension		163729	7426	1	2002	Therefore, the -786 C/C genotype in NO synthase is a significant contributing factor for increasing the risk of essential hypertension.	Cohort 705 a clinically healthy population										
141214	N	Cardiovascular Pathology	CARDIOVASCULAR	CARD	Carotid Stenosis|Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Karvonen J 2002	11905585	Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Oulu. Finland	Finland	KGB	4846	Hs.511603			Journal of internal medicine. 2002 Feb;251(2):102-10	Endothelial nitric oxide synthase gene Glu298Asp polymorphism and blood pressure, left ventricular mass and carotid artery atherosclerosis in a population-based cohort.		163729	7427	1	2002	 The Glu298Asp variant of the eNOS gene does not seem to be a major risk factor for cardiovascular alterations in the general population.	Case:600 middle-aged hypertensive subjects (300 men and 300:women) Oulu, Northern Finland;Control:600 controls (300 men and 300 women)										
141215	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609	?	Colombo MG 2002	12010932	Glu (298)--> Asp polymorphism			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Heart (British Cardiac Society). 2002 Jun;87(6):525-8	Evidence for association of a common variant of the endothelial nitric oxide synthase gene (Glu(298)-->Asp polymorphism) to the presence, extent, and severity of coronary artery disease		163729	7428	1	2002	 Glu298-->Asp polymorphism of the eNOS gene appears to be associated with the presence, extent, and severity of angiographically assessed coronary artery disease.	Control:114:controls;Case:201 patients with coronary artery disease										
141216	Y	Systemic Sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	?	Fatini C 2002	12015245	eNOS 894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Italy	KGB	4846	Hs.511603			The American journal of medicine. 2002 May;112(7):540-4	High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis		163729	7429	1	2002	 Our findings of an increased risk of systemic sclerosis in ACE D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the pathogenesis of the disease.	Control:112 control subjects;Case:73 consecutive patients (47 with limited and 26 with diffuse cutaneous systemic sclerosis)										
141217	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	?	Salvarani C 2002	11908569				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Italian		KGB	4846	Hs.511603			The Journal of rheumatology. 2002 Mar;29(3):535-40	Endothelial nitric oxide synthase gene polymorphisms in Bechet's disease.		163729	7430	1	2002	 Our findings show that Glu-Asp298 polymorphism of eNOS gene is associated with BD susceptibility.	Control:135 healthy blood donor controls from the same geographic area;Case:73 consecutive Italian patients who satisfied the International Study Group criteria for BD:Italy										
141218	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609	?	Nassar BA 2001	11579346	Asp298			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			American heart journal. 2001 Oct;142(4):586-9	=>Author:Nassar, B. A. //Bevin, L. D. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Kirkland, S. A. //Title, L. M.		163729	7431	1	2001	 Our study does not support the conclusion that the eNOS Asp298 allele contributes to the development of premature CAD.	Cohort 299 patients with a history of myocardial infarction (MI) or angina pectoris plus angiographically documented CAD										
141219	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609	n	Granath B 2001	11551002	eNOS 4ab. G894T. and T- 786C polymorphisms			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Australian Caucasian	Australia	KGB	4846	Hs.511603			Journal of cardiovascular risk. 2001 Aug;8(4):235-41	Lack of evidence for association between endothelial nitric oxide synthase gene polymorphisms and coronary artery disease in the Australian Caucasian population.		163729	7432	1	2001	 In a large case-control study, and in contrast to some earlier positive findings by others, we have found no evidence for an association between several eNOS gene polymorphisms and premature CAD in an Australian Caucasian population.	Case:573 Caucasian subjects aged under 50 years presenting with symptomatic CAD and documented by coronary angiography, with or without myocardial infarction;Control:624 similarly aged community controls without a history of symptomatic CAD										
141220	Y	end-stage renal disease	OTHER	OTH	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	0.001	Noiri F	12364359				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KEW	4846	Hs.511603			Hypertension. 2002 Oct;40(4):535-40	Association of eNOS Glu298Asp polymorphism with end-stage renal disease.		163729	7433	1	2002	These data indicated that Glu298Asp is the predisposing factor in ESRD, especially DM-derived ESRD. The functional difference in NO generation depending on eNOS with either glutamate or aspartate at position 298 was also confirmed in vitro.	Case:185 end-stage renal disease patients;Control:304 unrelated healthy individuals										
141221	N	Migraine	NEUROLOGICAL	NEUR	Migraine Disorders	7	7q36	NOS3	150319079	150342609	n	Griffiths LR et al. 1997	9270610				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Neurology. 1997 Aug;49(2):614-7	Migraine association and linkage studies of an endothelial nitric oxide synthase (NOS3) gene polymorphism.		163729	7434	1	1997	Results using the nonparametric affected pedigree member form of analysis also did not support a role for this gene in migraine etiology.											
141222	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	0.002	Rossi GP 2003	12651036	C allele			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian patients of the GENICA study		KEW	4846	Hs.511603			Journal of the American College of Cardiology. 2003 Mar;41(6):930-7	The T-786C endothelial nitric oxide synthase genotype is a novel risk factor for coronary artery disease in Caucasian patients of the GENICA study.		163729	7435	1	2003	 The C allele at the T(-786)C endothelial nitric oxide synthase polymorphism is associated with a higher risk of multivessel CAD in Caucasians.	Case:1,106 consecutive patients undergoing coronary:angiography;Control:119 control subjects without any cardiovascular risk:factors	age cholesterol obesity smoking (tobacco)									
141223	N	diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Arteriosclerosis|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609	n	Frost D 2003	12605344				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KEW	4846	Hs.511603	carotid artery intima-media thickness		Experimental and clinical endocrinology & diabetes. 2003 Feb;111(1):5-Dec	Endothelial nitric oxide synthase (ecNOS) 4 a/b gene polymorphism and carotid artery intima-media thickness in type-1 diabetic patients.		163729	7436	1	2003	 Our results do not support the hypothesis that the ecNOS 4 a/b polymorphism interacts with the development of early carotid arteriosclerosis in young type-1 diabetic patients, but they give grounds to assume that in these patients it could influence the occurence of diabetic retinopathy.	Cohort 147 type-1 diabetic patients (56 men and 91 women), mean age 30.1 +/- 6.6 years (range 14 - 44), with a diabetes duration of 13.1 +/- 8.1 years										
141225	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Komatsu M et al. 2002	12124201				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			American journal of physiology Heart and circulatory physiology. 2002 Aug;283(2):H557-61	ecNOS gene polymorphism is associated with endothelium-dependent vasodilation in Type 2 diabetes.		163729	7438	1	2002	These results suggest that ecNOS4a allele is a genetic risk factor for endothelial dysfunction in diabetic patients, especially in smokers.	Cohort 95 patients with Type 2 diabetes	smoking (tobacco)									
141226	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	7	7q36	NOS3	150319079	150342609		Hou L et al. 2001	11222793				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	KGB	4846	Hs.511603			Neurology. 2001 Feb;56(4):490-6	Association of a 27-bp repeat polymorphism in ecNOS gene with ischemic stroke in Chinese patients.		163729	7439	1	2001	 The ecNOS a allele in intron 4 may be an independent risk factor for ischemic stroke in the Chinese population studied, especially in those lacking other conventional risk factors.	Case:364 patients with ischemic stroke:China;Control:516:controls										
141227	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Sobstyl J et al. 2002	12362496				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Poland	KGB	4846	Hs.511603			Polski merkuriusz lekarski. 2002 Jul;13(73):3-Oct	Analysis of association of human endothelial nitric oxide synthase gene polymorphism with myocardial infraction trans Analiza zwiazku polimorfizmu genu srodblonkowej syntetazy tlenku azotu z zawalem miesnia sercowego.		163729	7440	1	2002	It was found that TT and GT genotypes and allele T were associated with myocardial infarction patients under 50 years. We did not observed this association for older myocardial infarction patients. Allele T might be used as a genetic marker in the prophylaxis of myocardial infarction among people under 50 years.	Control:136 healthy individuals;Case:178 patients with myocardial infarction										
141228	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Cine N et al. 2002	11903359				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Turkey	KGB	4846	Hs.511603			Clinical genetics. 2002 Jan;61(1):66-70	Association of a polymorphism of the ecNOS gene with myocardial infarction in a subgroup of Turkish MI patients.		163729	7441	1	2002	We found that the patients with MI had the frequency of the a/a genotype 4.3%, of the a/b genotype 26.6% and the b/b genotype 69.1%. The controls, however, showed only 0.6% for a/a, 18.0% for a/b and 81.4% for the b/b genotype (P < 0.001; chi2 = 13.626). In this study, we show that myocardial infarction is associated with one subtype of ecNOS gene polymorphism.	Case myocardial infarction cases in a subgroup of the Turkish population;Control controls not specified in abstract										
141229		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Poirier O et al. 1999	10231340				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		France|Northern Ireland	KGB	4846	Hs.511603			European journal of clinical investigation. 1999 Apr;29(4):284-90	Polymorphisms of the endothelial nitric oxide synthase gene - no consistent association with myocardial infarction in the ECTIM study.		163729	7442	1	1999	 We have explored a set of polymorphisms of the ecNOS gene in a large case-control study of MI and found that the polymorphisms were not consistently associated with MI.											
141230	Y	placental abruption	REPRODUCTION	REP	Abruptio Placentae	7	7q36	NOS3	150319079	150342609		Yoshimura T et al. 2001	11354626	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Human genetics. 2001 Mar;108(3):181-3	The missense Glu298Asp variant of the endothelial nitric oxide synthase gene is strongly associated with placental abruption.		163729	7443	1	2001	We conclude that  the presence of the Glu298Asp eNOS gene variant could be a marker of increased risk of developing placental abruption.	Control:170 subjects who had no history of hypertension, proteinuria, or thromboembolic complications during the examined pregnancy or any prior pregnancies;Case:35 patients with histories of placental abruption										
141231		hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Nakayama T et al. 1997	9084930				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	KGB	4846	Hs.511603			Clinical genetics. 1997 Jan;51(1):26-30	Association analysis of CA repeat polymorphism of the endothelial nitric oxide synthase gene with essential hypertension in Japanese.		163729	7444	1	1997												
141232	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609	n	Benjafield AV et al. 2000	10981549				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Anglo-Celtic Caucasian		KGB	4846	Hs.511603			American journal of hypertension. 2000 Sep;13(9):994-8	Association analyses of endothelial nitric oxide synthase gene polymorphisms in essential hypertension.		163729	7445	1	2000		Case:184; Control:112										
141234	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Shoji M et al. 2000	10883733				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Life sciences. 2000 May;66(26):2557-62	Positive association of endothelial nitric oxide synthase gene polymorphism with hypertension in northern Japan.		163729	7447	1	2000												
141235	Y	enhanced vascular responsiveness to phenylephrine	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Philip I et al. 1999	10377070				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Circulation. 1999 Jun;99(24):3096-8	G894T polymorphism in the endothelial nitric oxide synthase gene is associated with an enhanced vascular responsiveness to phenylephrine.		163729	7448	1	1999	 These results evidenced an enhanced responsiveness to alpha-adrenergic stimulation in patients with the 894T allele in the eNOS gene.											
141236	Y	coronary in-stent restenosis.	CARDIOVASCULAR	CARD	Coronary Restenosis	7	7q36	NOS3	150319079	150342609		Gomma AH et al. 2002	12473258				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			European heart journal. 2002 Dec;23(24):1955-62	The endothelial nitric oxide synthase (Glu298Asp and -786T>C) gene polymorphisms are associated with coronary in-stent restenosis.		163729	7449	1	2002	 In patients with coronary artery disease, the possession of the 298Asp and -786C variants of the eNOS gene are a risk factor for coronary in-stent restenosis, demonstrating the importance of the nitric oxide system in restenosis.	Cohort 205 patients who underwent elective and successful coronary artery stenting who were restudied by coronary angiogram at 6 months										
141239	N	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia	7	7q36	NOS3	150319079	150342609	n	Via M et al. 2003	12503100				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Spanish	Spain	KGB	4846	Hs.511603			American journal of medical genetics Part A. 2003 Jan;116(3):243-8	Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish population.		163729	7452	1	2003												
141240		duodenal ulcer	OTHER	OTH	Peptic Ulcer Hemorrhage|Duodenal Ulcer	7	7q36	NOS3	150319079	150342609		Serrano T et al. 2002	12018926				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Digestive diseases and sciences. 2002 May;47(5):996-1000	Bleeding duodenal ulcer and association with polymorphism of endothelial constitutive nitric oxide synthase gene.		163729	7453	1	2002	Transmission disequilibrium and case-control analyses, in two independent Caucasian cohorts, showed a novel association of the TNF(-857C) promoter polymorphism with IBD (overall P=0.001 in 587 IBD families). Further genetic associations of TNF(-857C) with IBD sub-phenotypes were seen for ulcerative colitis and for Crohn's disease, but only in patients not carrying common NOD2 mutations. The genetic data suggest a recessive model of inheritance, and we observed ex vivo lipopolysaccharide-stimulated whole-blood TNF production to be higher in healthy TNF(-857C) homozygotes.	Control:120 healthy controls;Case:188 ulcer patients										
141241	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609	n	Hwang JJ et al. 2002	11978951			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	hospital-based Taiwanese	Taiwan	KGB	4846	Hs.511603			Cardiology. 2002 ;97(2):67-72	The 27-bp tandem repeat polymorphism in intron 4 of the endothelial nitric oxide synthase gene is not associated with coronary artery disease in a hospital-based Taiwanese population.		163729	7454	1	2002	In conclusion, the 27-bp repeat polymorphism of the eNOS gene was not associated with CAD and the occurrence of AMI or unstable angina in a hospital-based Taiwanese population.	Cohort 219 consecutive patients who underwent coronary angiography										
141242	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609	n	Kunugi H et al. 2000	11041283				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			J Neural Transm. 2000 ;107(9-Aug):1081-4	No evidence for an association between the Glu298Asp polymorphism of the NOS3 gene and Alzheimer's disease.		163729	7455	1	2000												
141243	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Dahiyat M et al. 1999	10514107				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Annals of neurology. 1999 Oct;46(4):664-7	Association between Alzheimer's disease and the NOS3 gene.		163729	7456	1	1999												
141244	N	proliferative diabetic retinopathy.	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609	n	Fujita H et al. 2000	10741691				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Horm Metab Res. 2000 Feb;32(2):80-3	Lack of association between an ecNOS gene polymorphism and diabetic nephropathy in type 2 diabetic patients with proliferative diabetic retinopathy.		163729	7457	1	2000	We conclude that  the ecNOS4 polymorphism does not contribute to the development of diabetic nephropathy.											
141245	Y	chronic renal failure	RENAL	REN	Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Lin S et al. 2002	12421496				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		China	KGB	4846	Hs.511603			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Aug;41(8):513-6	Association of ecNOS 4 b/a polymorphism and end-stage chronic renal failure		163729	7458	1	2002	 (1) The frequency of allele a is lower in Han people of Tianjin than that in Japanese and Westeners; (2) ecNOS 4 b/a polymorphism is associated with ESCRF in Han population of Tianjin and allele a is associated with the increased risk of ESCRF.	Case:67 Chinese Han chronic end-stage renal failure:patients:Tianjin, China										
141246	N	stroke	CARDIOVASCULAR	CARD	Brain Ischemia	7	7q36	NOS3	150319079	150342609	n	Akar N et al. 2000	10932305				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Neurology. 2000 Aug;55(3):460-1	No association between Glu/Asp polymorphism of NOS3 gene and ischemic stroke.		163729	7459	1	2000												
141247	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia	7	7q36	NOS3	150319079	150342609	n	MacLeod MJ et al. 1999	10430441				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Neurology. 1999 Jul;53(2):418-20	No association between Glu/Asp polymorphism of NOS3 gene and ischemic stroke.		163729	7460	1	1999												
141248	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609	n	Sigusch HH et al. 2000	10885495			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Scandinavian journal of clinical and laboratory investigation. 2000 May;60(3):229-35	Lack of association between 27-bp repeat polymorphism in intron 4 of the endothelial nitric oxide synthase gene and the risk of coronary artery disease.		163729	7461	1	2000												
141249	Y	coronary in-stent restenosis.	CARDIOVASCULAR	CARD	Coronary Restenosis	7	7q36	NOS3	150319079	150342609		Suzuki T et al. 2002	12243851				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			International journal of cardiology. 2002 Nov;86(1):71-6	The Glu298Asp polymorphism in endothelial nitric oxide synthase gene is associated with coronary in-stent restenosis.		163729	7462	1	2002	 The missense Glu298Asp variant may be an independent risk factor for in-stent restenosis.	Cohort 85 consecutive patients who were treated with Palmaz-Schatz stents										
141250	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609	n	Kato N et al. 1999	10205226				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Hypertension. 1999 Apr;33(4):933-6	Lack of evidence for association between the endothelial nitric oxide synthase gene and hypertension.		163729	7463	1	1999												
141251	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Jachymova M et al. 2001	11394896				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Biochemical and biophysical research communications. 2001 Jun;284(2):426-30	Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy.		163729	7464	1	2001	The presence of this allele may thus be predictive of the patients' therapeutic response.	Case:119 patients with essential hypertension;Control:85 age- and sex-matched healthy normals	antihypertensive drug									
141252	Y	smoking	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Yoon S et al. 2002	12204432			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603	smoking		Clinica chimica acta; international journal of clinical chemistry. 2002 Oct;324(2-Jan):113-20	Smoking status-dependent association of the 27-bp repeat polymorphism in intron 4 of endothelial nitric oxide synthase gene with plasma nitric oxide concentrations.		163729	7465	1	2002	 Our data indicate that there is substantial effect of eNOS4b/a polymorphism on the variance of plasma NO(x) concentrations in Korean population and that this effect is dependent on smoking status.	Cohort 393 healthy Korean subjects	smoking (tobacco)									
141254	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609	n	Sanchez-Guerra M et al. 2001	11300106				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of neurology, neurosurgery, and psychiatry. 2001 Apr;70(4):566-7	The Glu298Asp polymorphism in the NOS3 gene is not associated with sporadic Alzheimer's disease.		163729	7467	1	2001												
141256	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	n	Aras O et al. 2002	11858501				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	KGB	4846	Hs.511603			Thrombosis and haemostasis. 2002 Feb;87(2):347-9	Endothelial nitric oxide gene polymorphism (Glu298Asp) is not associated with coronary artery disease in Turkish population.		163729	7469	1	2002												
141257	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis|Coronary Thrombosis|Coronary Vasospasm|Myocardial Infarction|Acute Disease	7	7q36	NOS3	150319079	150342609		Gorchakova O et al. 2003	12727149				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			European heart journal. 2003 May;24(9):820-7	Association of a genetic variant of endothelial nitric oxide synthase with the 1 year clinical outcome after coronary stent placement.		163729	7470	1	2003	 In comparison with eNOS 894 G allele carriers, patients of the TT genotype were at an increased risk of death or MI within 1 year after coronary artery stenting.	Cohort 1,850 patients with coronary artery disease who were treated with stent implantation										
141258	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	n	Derebecka N et al. 2002	12136949			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Poland	KGB	4846	Hs.511603			Acta biochimica Polonica. 2002 ;49(1):263-8	Polymorphism in intron 23 of the endothelial nitric oxide synthase gene (NOS3) is not associated with hypertension.		163729	7471	1	2002	No major differences in the distribution of the G11T polymorphism in the patients and healthy individuals were found (P > 0.05).	Case patients with hypertension;Control healthy individuals										
141259	Y	high-altitude pulmonary edema.	OTHER	OTH	Pulmonary Edema|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Droma Y et al. 2002	12176955				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Circulation. 2002 Aug;106(7):826-30	Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema.		163729	7472	1	2002	 Both polymorphisms of the eNOS gene were significantly associated with HAPE. A genetic background may underlie the impaired NO synthesis in the pulmonary circulation of HAPE-s. These polymorphisms could be genetic markers for predicting the susceptibility to HAPE.	Case:41 high-altitude pulmonary edema susceptible subjects:Japan;Control:51 healthy climbers										
141260	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus	7	7q36	NOS3	150319079	150342609		Li C et al. 2001	11930675				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Nov;40(11):729-32	The association between polymorphism of endothelial nitric oxide synthase gene and diabetic nephropathy		163729	7473	1	2001	 The T allele at exon 7 and a allele in intron 4 are related to diabetic nephropathy in Chinese patients with type with 2 diabetes mellitus. The incidence of diabetic nephropathy is higher in patients who have both T and a alleles than patients who have either T or a allele alone.	Case:143 Chinese type 2 diabetic subjects with or without:nephropathy										
141262	N	Heterogeneity in hand veins responses to acetylcholine	OTHER	OTH		7	7q36	NOS3	150319079	150342609	n	Grossmann M et al. 2001	11434508				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Pharmacogenetics. 2001 Jun;11(4):307-16	Heterogeneity in hand veins responses to acetylcholine is not associated with polymorphisms in the G-protein beta3-subunit (C825T) and endothelial nitric oxide synthase (G894T) genes but with serum low density lipoprotein cholesterol.		163729	7475	1	2001	We did not find any association of the variability in ACh response with GNB3 or eNOS allele status. On the other hand, a significant positive correlation between ACh responsiveness and low density lipoprotein-cholesterol status was detected. Two recently discovered gene polymorphisms are not responsible for the profound heterogeneity in venodilator response to ACh. Surprisingly, this variability appears to relate to the lipid status of the subjects. The exact nature of this new finding requires further study.	Cohort 37 healthy subjects										
141263		plasma NO metabolite levels	METABOLIC	MET	Kidney Failure, Chronic|Coronary Disease	7	7q36	NOS3	150319079	150342609		Tsukada T et al. 1998	9535806				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Biochemical and biophysical research communications. 1998 Apr;245(1):190-3	Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans.		163729	7476	1	1998												
141264	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Shimasaki Y et al. 1998	9626827				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of the American College of Cardiology. 1998 Jun;31(7):1506-10	Association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with myocardial infarction.		163729	7477	1	1998	 There was a significant association of the missense Glu298Asp variant of the eNOS gene with MI. This marker-disease association may be due to the impaired effects of NO on the cardiovascular system: dysregulation of vascular tone, platelet aggregation and leukocyte adhesion and smooth muscle cell proliferation, all of which promote coronary atherosclerosis and thrombosis.											
141266		glaucoma	VISION	VIS	Glaucoma, Open-Angle	7	7q36	NOS3	150319079	150342609		Tunny TJ et al. 1998	9493554				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Clinical and experimental pharmacology & physiology. 1998 Jan;25(1):26-9	Association study of the 5' flanking regions of endothelial-nitric oxide synthase and endothelin-1 genes in familial primary open-angle glaucoma.		163729	7479	1	1998												
141267	Y	Preeclampsia	OTHER	OTH	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609	p < 0.01	Tempfer CB 2001	12044319	A			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Hypertension in pregnancy. 2001 ;20(1):107-18	An endothelial nitric oxide synthase gene polymorphism is associated with preeclampsia.		163729	7480	1	2001	 These data provide evidence for an association between NOS3 and preeclampsia. In defined ethnic groups, this NOS3 may offer predictive information regarding the subsequent development of preeclampsia and its clinical course.	Case patients with preeclampsia;Control:controls										
141269	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609	<0.001	Rossi GP 2003	12651037				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	caucasian		KEW	4846	Hs.511603	forearm blood flow		Journal of the American College of Cardiology. 2003 Mar;41(6):938-45	The T-786C and Glu298Asp polymorphisms of the endothelial nitric oxide gene affect the forearm blood flow responses of Caucasian hypertensive patients.		163729	7482	1	2003	 The T(-786)C promoter polymorphism and its interaction with exon 7 Glu298Asp affect endothelium-dependent vasodilation in mild-to-moderate PH patients and NT Caucasian subjects.	Cohort 187 subjects, of whom 137 were uncomplicated essential hypertensive patients (PH) (49 +/- 9 years, 151 +/- 11/99 +/- 5 mm Hg) and 50 healthy normotensive subjects (NT) (43 +/- 16 years, 123 +/- 10/78 +/- 7 mm Hg)										
141270	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609	?	Alvarez R 2001	11485372				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Spain	KGB	4846	Hs.511603			Nitric oxide. 2001 Aug;5(4):343-8	Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA Genotypes and Early Coronary Artery Disease		163729	7483	1	2001	Although based on a limited number of patients, our work suggests that individuals who are NOS3-CC + ACE-DD are at a higher risk for early CAD, probably as a consequence of increased endothelial dysfunction.	Case:170 male smokers with coronary artery disease younger than 50 years;Control:300 healthy male smokers										
141272	N	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609	n	Kajiyama N 2000	11131266	T- 786 -->C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese		KGB	4846	Hs.511603			Hypertension research. 2000 Nov;23(6):561-5	Lack of association between T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene and essential hypertension.		163729	7485	1	2000	the T-786-->C variant was not positively associated with essential hypertension	Case:215 essential hypertension people Kyoto and Kumamoto, Japan:Cohort:233 gender and age matched controls										
141273	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Thrombosis|Myocardial Infarction|Death, Sudden	7	7q36	NOS3	150319079	150342609		Kunnas TA et al. 2002	12226742				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2002 Sep;80(9):605-9	Association of the endothelial nitric oxide synthase gene polymorphism with risk of coronary artery disease and myocardial infarction in middle-aged men.		163729	7486	1	2002	The eNOS gene 4a/b polymorphism was not associated with the extent of coronary atherosclerosis, but the a-allele of the variant seems to protect to some degree against the development of MI.	Cohort 700 Caucasian Finnish men, who died suddenly from two prospective autopsy series										
141275	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Miyamoto Y et al. 1998	9674630				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Hypertension. 1998 Jul;32(1):8-Mar	Endothelial nitric oxide synthase gene is positively associated with essential hypertension.		163729	7488	1	1998												
141276	Y	coronary atherosclerotic heart disease in Chinese	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Wei D et al. 2002	12476417				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	KGB	4846	Hs.511603			Zhonghua yi xue yi chuan xue za zhi. 2002 Dec;19(6):471-4	The G894T mutation of the endothelial nitric oxide synthase gene is associated with coronary atherosclerotic heart disease in Chinese		163729	7489	1	2002	 The G894T mutation of the endothelial nitric oxide synthase gene may be a marker for genetical predisposition of CHD in Chinese Han population.	Case:106 Chinese Han patients with coronary heart disease;Control:108 unrelated healthy individuals										
141277	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus	7	7q36	NOS3	150319079	150342609		Park JE et al. 2000	10714094				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	KGB	4846	Hs.511603			The Korean journal of internal medicine. 2000 Jan;15(1):65-70	Aging affects the association between endothelial nitric oxide synthase gene polymorphism and acute myocardial infarction in the Korean male population.		163729	7490	1	2000	 Our work provides the first evidence that links ecNOS polymorphism to the risk of AMI in relation to age. Young persons who smoke or have ecNOSaa genotype may have an increased risk of developing AMI. The functional as well as structural changes associated with aging in the vascular endothelium may mask the effect of the ecNOS polymorphism in the development of AMI in old persons.											
141278	Y	cardiopulmonary disease	CARDIOVASCULAR	CARD	Lung Diseases|Cardiovascular Diseases	7	7q36	NOS3	150319079	150342609		Tesauro M et al. 2000	10717002				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Proceedings of the National Academy of Sciences of the United States of America. 2000 Mar;97(6):2832-5	Intracellular processing of endothelial nitric oxide synthase isoforms associated with differences in severity of cardiopulmonary diseases: cleavage of proteins with aspartate vs. glutamate at position 298.		163729	7491	1	2000												
141280	Y	cognitive impairment	AGING	AGE	Cognition Disorders	7	7q36	NOS3	150319079	150342609	P < 0.05	Sole-Padulles C 2004	15016421	T variant of the Glu298Asp NOS3 polymorphism		coding sequence	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	spanish		KGB	4846	Hs.511603	Subjects carrying the T variant performed significantly worse in MMSE, visual memory and frontal lobe function		Neuroscience letters. 2004 Mar;358(1):8-May	Poorer cognitive performance in humans with mild cognitive impairment carrying the T variant of the Glu/Asp NOS3 polymorphism.		163729	7493	1	2004	These results suggest that the T allele is a genetic risk factor for cognitive impairment in the elderly.	Control:136:controls;Case:62 mild cognitively impaired subjects										
141281	Y	coronary spasm.	CARDIOVASCULAR	CARD	Coronary Vasospasm	7	7q36	NOS3	150319079	150342609		Nakayama M et al. 1999	10359729				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Circulation. 1999 Jun;99(22):2864-70	T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene is associated with coronary spasm.		163729	7494	1	1999	 Taken together, these findings strongly suggest that the T-786-->C mutation in the eNOS gene reduces the endothelial NO synthesis and predisposes the patients with the mutation to coronary spasm.											
141283	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609	n	Hirashiki A 2003	14563588	786T3C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	KGB	4846	Hs.511603			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		163729	7496	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
141284	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Lee YJ 2003	14624405				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	chinese	China	KGB	4846	Hs.511603			Metabolism:  clinical and experimental. 2003 Nov;52(11):1448-53	Association of a 27-bp repeat polymorphism in intron 4 of endothelial constitutive nitric oxide synthase gene with serum uric acid levels in Chinese subjects with type 2 diabetes.		163729	7497	1	2003	Our results suggest that SUA levels may be associated with NO activity and can be genetically predetermined.	Control:398 nondiabetic subjects;Case:800 patients with type 2 diabetes										
141285	Y	giant cell arteritis.	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Salvarani C 2003	14613286				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Arthritis and rheumatism. 2003 Nov;48(11):3219-23	Endothelial nitric oxide synthase gene polymorphisms in giant cell arteritis.		163729	7498	1	2003	 Our findings show that the Glu/Asp(298) polymorphism of the eNOS gene is associated with GCA susceptibility.	Control:133 population-based controls from the same geographic:area;Case:91 consecutive patients with biopsy-proven giant cell:arteritis Reggio Emilia, Italy										
141286	Y	Behcet's Disease	IMMUNE	IMM	Rheumatic Diseases|Behcet Syndrome|Vasculitis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Kim JU 2003	14583572				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Annals of the rheumatic diseases. 2003 Nov;62(11):1083-7	Endothelial nitric oxide synthase gene polymorphisms in Behcet's disease and rheumatic diseases with vasculitis.		163729	7499	1	2003	 The Glu298Asp polymorphism in exon 7 of the eNOS gene seems to be a susceptibility gene for Korean BD and other rheumatic diseases.	Case:65/27 patients with Behcet's disease (n=65) and rheumatic diseases with vasculitis (n=27):Korea;Control:80:controls										
141287	Y	intracranial aneurysms	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Aneurysm, Ruptured	7	7q36	NOS3	150319079	150342609		Khurana VG 2003	14576373				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2003 Nov;34(11):2555-9	Endothelial nitric oxide synthase T-786C single nucleotide polymorphism: a putative genetic marker differentiating small versus large ruptured intracranial aneurysms.		163729	7500	1	2003	 The eNOS T-786C SNP distinguishes genetically between small and large ruptured aneurysms. Although not predictive of SAH in the population at large, our data suggest that among persons with known intracranial aneurysms, eNOS T-786C genotype may be a factor influencing the size at which an aneurysm ruptures, a finding that should be taken into consideration along with other anatomic features of the aneurysm.	Case:52 aneurysmal subarachnoid hemorrhage (SAH) patients;Control:90 randomly selected controls										
141288	Y	coronary vasomotor function	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Nakamura S 2003	12975258				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Circulation. 2003 Sep;108(12):1425-7	Polymorphism in glutamate-cysteine ligase modifier subunit gene is associated with impairment of nitric oxide-mediated coronary vasomotor function.		163729	7501	1	2003	 The -588T polymorphism of the GCLM gene causes a decrease in endothelial NO bioactivity, leading to impairment of endothelium-dependent vasomotor function in large and resistance coronary arteries. The GCL-GSH-NO axis may play a role in the defense system against coronary artery disease.											
141289	Y	essential hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Rodriguez-Esparragon FJ 2003	12923396				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of hypertension. 2003 Sep;21(9):1649-55	Peroxisome proliferator-activated receptor-gamma2-Pro12Ala and endothelial nitric oxide synthase-4a/bgene polymorphisms are associated with essential hypertension.		163729	7502	1	2003	 Both analyzed polymorphisms were associated in a synergistic manner with hypertension. This effect manifested only in those subjects with normal homocysteine plasma values. Our findings suggest complex genotype-environmental interactions on hypertensive risk.	Control:223 normotensive matched controls;Case:235 subjects with arterial hypertension										
141290		homocysteine, cholesterol and vascular endothelial function	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Bilsborough W 2003	12860259				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Atherosclerosis. 2003 Jul;169(1):131-8	Endothelial nitric oxide synthase gene polymorphism, homocysteine~~~ cholesterol and vascular endothelial function.		163729	7503	1	2003	In these normal community subjects, plasma homocysteine and HDL-cholesterol were predictors of FMD despite subjects being recruited without regard to these variables and despite normal plasma levels.	Cohort 60 normal healthy subjects										
141291		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609		Eisenhardt A 2003	12837457				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Urology. 2003 Jul;62(1):152-7	ACE gene I/D and NOS3 G894T polymorphisms and response to sildenafil in men with erectile dysfunction.		163729	7504	1	2003	 It appears that patients with elevated ACE serum concentrations, as associated with the D allele of the ACE I/D polymorphism, are less likely to respond to sildenafil.	Control:108 healthy male blood donors;Case:113 men with erectile dysfunction	sildenafil									
141292	Y	exhaled nitric oxide levels	OTHER	OTH	Asthma	7	7q36	NOS3	150319079	150342609		van's Gravesande KS 2003	12738608				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			American journal of respiratory and critical care medicine. 2003 Jul;168(2):228-31	Association of a missense mutation in the NOS3 gene with exhaled nitric oxide levels.		163729	7505	1	2003	Our results demonstrate that the endothelial nitric oxide synthase, a nitric oxide synthase constitutively expressed in epithelial cells, plays an important role in determining measured levels of exhaled nitric oxide, a marker of the asthmatic condition.	Cohort asthmatic subjects										
141293	N	Coronary Artery Disease	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease|Arteriosclerosis	7	7q36	NOS3	150319079	150342609	n	Schmoelzer I 2003	12641536				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Austrian	Austria	KEW	4846	Hs.511603			European journal of clinical investigation. 2003 Mar;33(3):191-8	Lack of association of the Glu298Asp polymorphism of endothelial nitric oxide synthase with manifest coronary artery disease, carotid atherosclerosis and forearm vascular reactivity in two Austrian populations.		163729	7506	1	2003	 Our results suggest that there is no association of the Glu298Asp polymorphism with coronary or carotid atherosclerosis or forearm vascular reactivity in these populations recruited in a country with a rather high risk for atherosclerosis. We suggest additional investigations to be performed in populations at different risk for coronary events to further elucidate the possible contribution of this polymorphism to vascular disease.	Case:240 coronary artery disease patients;Control:248:controls										
141294	Y	sickle cell disease	METABOLIC	MET	Anemia, Sickle Cell|Syndrome|Acute Disease|Genetic Predisposition to Disease|Chest Pain	7	7q36	NOS3	150319079	150342609		Sharan K 2004	14687036	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	American		KGB	4846	Hs.511603			British journal of haematology. 2004 Jan;124(2):240-3	Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.		163729	7507	1	2004	Multiple logistic regression analysis showed that relative risk of ACS was 8.695 (P = 0.0076, 95% confidence interval 1.761-42.920) for female carriers of C-786. eNOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.	Cohort African-American sickle cell disease patients										
141295	N	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Ukkola O 2001	11350569				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			Y Wang	4846	Hs.511603	Complications		Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase, copper-zinc superoxide dismutase (SOD), extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		163729	7508	1	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.											
141296	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Rippin JD 2003	12687343				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			Y Wang	4846	Hs.511603	Complications		Diabetologia. 2003 Mar;46(3):426-8	Nitric oxide synthase gene polymorphisms and diabetic nephropathy.		163729	7509	1	2003	In our cohort of Caucasian subjects with Type 1 diabetes there is no association between either of the polymorphisms studied and diabetic nephropathy. The previous suggestion from smaller studies that the intron 4 polymorphism in NOS3 could play a role in susceptibility to the disease is not confirmed.	Case patients with Type 1 diabetes and overt nephropathy who had hypertension and diabetic retinopathy;Control Type 1 diabetic subjects who have been on insulin for 50 or more years and have an extremely low risk of nephropathy										
141297	N	Restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	7	7q36	NOS3	150319079	150342609		Volzke H 2004	12899665	4 b/a			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603	coronary angioplasty		Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		163729	7510	1	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients										
141298		cerebral small-vessel disease	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction	7	7q36	NOS3	150319079	150342609		Hassan A 2004	14963277			haplotype	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):654-9	Endothelial nitric oxide gene haplotypes and risk of cerebral small-vessel disease.		163729	7511	1	2004	 The intron 4ab insertion/deletion genotype was associated with isolated lacunar infarction. Haplotype and functional studies suggested that the protective effect of the 4a variant could be mediated through changes in eNOS promoter activity and increased NO levels. The specific association with isolated symptomatic lacunar infarction and not ischemic leukoaraiosis may reflect different etiopathogeneses of the 2 subtypes. Lack of NO could predispose to localized microatheroma in proximal arterioles rather than diffuse arteriosclerosis affecting distal perforating vessels.	Case:300 patients with cerebral small-vessel disease;Control:600 community controls										
141299		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Odawara M 1998	9541180				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	Y Wang	4846	Hs.511603	Complications		Diabetologia. 1998 Mar;41(3):365-6	Endothelial nitric oxide synthase gene polymorphism and coronary heart disease in Japanese NIDDM.		163729	7512	1	1998												
141300	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Degen B 2001	11209024				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			Y Wang	4846	Hs.511603	Complications		Nephrology, dialysis, transplantation. 2001 Jan;16(1):185	A polymorphism in the gene for the endothelial nitric oxide synthase and diabetic nephropathy.		163729	7513	1	2001	This study does not support the hypothesis that the ecNOS gene plays a role in the development of diabetic nephropathy.	Cohort 194/130/217/197 Caucasian patients with type 1 and type 2 diabetes with and without diabetic nephropathy (type 1, without nephropathy n=194, with nephropathy n=130, type 2, without nephropathy n=217, without nephropathy n=197)										
141301	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Park KW 2004	14966047				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	KGB	4846	Hs.511603			Heart (British Cardiac Society). 2004 Mar;90(3):282-5	Association of endothelial constitutive nitric oxide synthase gene polymorphism with acute coronary syndrome in Koreans.		163729	7514	1	2004	 The non-BB genotype of the ecNOS 4a/4b gene polymorphism is a protective factor against the development of ACS. The GG genotype of the ecNOS Glu298Asp polymorphism exerts a benefit in addition to the non-BB genotype in the Korean population.	Control:142 control participants;Case:164 patients with acute coronary syndrome:Korea										
141302	N	Henoch-Schonlein purpura	IMMUNE	IMM	Purpura, Schoenlein-henoch|Disease Susceptibility	7	7q36	NOS3	150319079	150342609		Amoli MM 2004	14760800	298Glu/Asp or 5557G/T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			The Journal of rheumatology. 2004 Feb;31(2):299-30	Lack of association between endothelial nitric oxide synthase polymorphisms and Henoch-Schonlein purpura.		163729	7515	1	2004	 Our results do not support a role for these polymorphisms in the susceptibility to HSP.	Control:117 ethnically matched controls;Case:50 patients from Northwest Spain with primary cutaneous vasculitis classified as Henoch-Schonlein:purpura Northwest Spain										
141303	N	vasodilation	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Schneider, M. P.  et al. 2000	11132600	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2000 Dec;18(12):1767-73	Functional gene testing of the Glu298Asp polymorphism of the endothelial NO synthase.		163729	12729	2	2000	 At a power of 80%, we can exclude a relevant effect on endothelium-dependent vasodilation due to the eNOS Glu298Asp polymorphism. Thus, our functional genetic study does not suggest any biological effect of the eNOS Glu298Asp genotype on the cardiovascular system via an influence on endothelium-dependent vasodilation.	Cohort 80 patients with normal or elevated cholesterol 	acetylcholine NG-monomethyl-L-arginine nitroprusside									
141304	N	diabetic nephropathy	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Degen, B.  et al. 2001	11209024				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nephrology, dialysis, transplantation. 2001 Jan;16(1):185	A polymorphism in the gene for the endothelial nitric oxide synthase and diabetic nephropathy.		163729	12730	2	2001	This study does not support the hypothesis that the ecNOS gene plays a role in the development of diabetic nephropathy.	Cohort 194/130/217/197 Caucasian patients with type 1 and type 2 diabetes with and without diabetic nephropathy (type 1, without nephropathy n=194, with nephropathy n=130, type 2, without nephropathy n=217, without nephropathy n=197) 										
141305	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	7	7q36	NOS3	150319079	150342609		Hou, L.  et al. 2001	11222793	27bp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	CDC GDPinfo	4846	Hs.511603			Neurology. 2001 Feb;56(4):490-6	Association of a 27-bp repeat polymorphism in ecNOS gene with ischemic stroke in Chinese patients.		163729	12731	2	2001	 The ecNOS a allele in intron 4 may be an independent risk factor for ischemic stroke in the Chinese population studied, especially in those lacking other conventional risk factors.	Case:364 patients with ischemic stroke:China;Control:516:controls										
141306	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Jachymova, M.  et al. 2001	11394896	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Biochemical and biophysical research communications. 2001 Jun;284(2):426-30	Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy.		163729	12733	2	2001	The presence of this allele may thus be predictive of the patients' therapeutic response.	Case:119 patients with essential hypertension;Control:85 age- and sex-matched healthy normals	antihypertensive drug									
141307	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Bashford, M. T.  et al. 2001	11408851				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Hispanic		CDC GDPinfo	4846	Hs.511603			American journal of obstetrics and gynecology. 2001 Jun;184(7):1345-50; discussion 1350-1	Angiotensinogen and endothelial nitric oxide synthase gene polymorphisms among Hispanic patients with preeclampsia.		163729	12734	2	2001	 The AGT*T allele was not associated with the development of preeclampsia. Independently of the presence of an AGT*T allele, the NOS3*A allele was associated with a higher blood pressure at an earlier gestational age.	Control:53 patients who were at least gravida 2 with a previous term delivery and no history of preeclampsia in the previous or current pregnancy;Case:87 patients with preeclampsia										
141308	Y	coronary heart disease; hypertension; myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	7	7q36	NOS3	150319079	150342609			11436560				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Russian	Russia	CDC GDPinfo	4846	Hs.511603			Genetika. 2001 May;37(5):668-74	[Endothelial nitric oxide synthase gene minisatellite polymorphism: study in populations ofthe Volga-Ural region and analysis of associations with myocardial infarct and essential hypertension]		163729	12736	2		Thus, in Russians the eNOS4A/B genotype was associated with the development of essential hypertension, while in Tatars it was associated with the risk of myocardial infarction.											
141309	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Tempfer, C.  et al. 2001	11473956				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Human reproduction (Oxford, England). 2001 Aug;16(8):1644-7	Endothelial nitric oxide synthase gene polymorphism in women with idiopathic recurrent miscarriage		163729	12737	2	2001	 These data support a role for the NOS3 gene as a genetic determinant of the risk of idiopathic recurrent miscarriage.	Case:105 women with idiopathic recurrent miscarriage;Control:91 healthy controls										
141310	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic|Disease Progression	7	7q36	NOS3	150319079	150342609		Asakimori, Y.  et al. 2001	11549906			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nephron. 2001 Oct;89(2):219-23	Endothelial nitric oxide synthase intron 4 polymorphism influences the progression of renal disease		163729	12738	2	2001	 There was a significantly higher frequency of the a allele of intron 4 in both nondiabetic and diabetic hemodialysis patients, so the polymorphism of intron 4 of the ecNOS gene may have a wide influence on the progression of renal disease.	Control:189 healthy subjects;Case:295 hemodialysis patients with diabetic nephropathy;Case:710 nondiabetic nephropathy hemodialysis patients										
141311	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Granath, B.  et al. 2001	11551002				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Australian	Australia	CDC GDPinfo	4846	Hs.511603			Journal of cardiovascular risk. 2001 Aug;8(4):235-41	Lack of evidence for association between endothelial nitric oxide synthase gene polymorphisms and coronary artery disease in the Australian Caucasian population.		163729	12739	2	2001	 In a large case-control study, and in contrast to some earlier positive findings by others, we have found no evidence for an association between several eNOS gene polymorphisms and premature CAD in an Australian Caucasian population.	Case:573 Caucasian subjects aged under 50 years presenting with symptomatic CAD and documented by coronary angiography, with or without myocardial infarction;Control:624 similarly aged community controls without a history of symptomatic CAD										
141312	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Nassar, B. A.  et al. 2001	11579346	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American heart journal. 2001 Oct;142(4):586-9	=>Author:Nassar, B. A. //Bevin, L. D. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Kirkland, S. A. //Title, L. M.		163729	12740	2	2001	 Our study does not support the conclusion that the eNOS Asp298 allele contributes to the development of premature CAD.	Cohort 299 patients with a history of myocardial infarction (MI) or angina pectoris plus angiographically documented CAD 										
141313		coronary blood flow	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperemia	7	7q36	NOS3	150319079	150342609		Naber, C. K.  et al. 2001	11668050	894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of physiology Heart and circulatory physiology. 2001 Nov;281(5):H1908-12	eNOS 894T allele and coronary blood flow at rest and during adenosine-induced hyperemia.		163729	12741	2	2001	The reduced APV at rest in conjunction with an increased CVR indicates a vasomotor dysfunction related to an increased microvascular resting tone in eNOS 894T allele carriers.	Cohort 97 individuals without coronary artery disease 										
141314	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Tsujita, Y.  et al. 2001	11677358				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2001 Nov;19(11):1941-8	Association analyses between genetic polymorphisms of endothelial nitric oxide synthase gene and hypertension in Japanese: The Suita Study.		163729	12742	2	2001	Our data suggested that these polymorphisms of the eNOS gene are unlikely to be major factors in the susceptibility to hypertension in the Japanese population studied.	Cohort 4055 Japanese individuals from a large population-based sample 										
141315	Y	hypertension; blood pressure	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Chen, W.  et al. 2001	11710784	(G894T)			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		United States	CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2001 Oct;14(10):1046-52	Combined effects of endothelial nitric oxide synthase gene polymorphism (G894T) and insulin resistance status on blood pressure and familial risk of hypertension in young adults: the BogalusaHeart Study		163729	12743	2	2001	Thus, the allelic variation (G894T) in the eNOS gene locus in conjunction with insulin resistance may be one factor contributing to the predisposition to hypertension.	Cohort 1021 unrelated African American and white young adults aged 19 to 38 years 										
141316		blood flow; vascular response; oxidative stress; nitirc oxide production; nitric oxide-mediated effect on resistance vessels	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Sofowora, G.  et al. 2001	11740345	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2001 Dec;11(9):809-14	In-vivo effects of Glu298Asp endothelial nitric oxide synthase polymorphism.		163729	12744	2	2001	We conclude that  in healthy volunteers the Glu298Asp polymorphism affects endogenous nitric oxide production without affecting nitric oxide-mediated vascular responses. This polymorphism may only have clinical significance in the presence of endothelial dysfunction.	Cohort 25 homozygotes of nitric oxide synthase gene (Glu298 n=12, Asp298 n=13) 	acetylcholine gylceryl trinitrate phenylephrine prostaglandin E1 stress									
141317	Y	vasodilation during pregnancy	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Savvidou, M. D.  et al. 2001	11751705				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2001 Dec;38(6):1289-93	Endothelial nitric oxide synthase gene polymorphism and maternal vascular adaptation to pregnancy.		163729	12745	2	2001	Our findings indicate that the endothelial NO synthase Glu298Asp polymorphism is associated with differences in endothelium-dependent dilation at 12-week gestation and are the first to implicate genetic factors in the normal vascular adaptation to pregnancy. They also provide a potential mechanism linking the endothelial NO synthase polymorphism with the development of cardiovascular disorders and have implications for understanding the genetic basis of preeclampsia.	Cohort 139 healthy women with normal singleton pregnancies 										
141318	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Gardemann, A.  et al. 2002	11755935	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Germany	CDC GDPinfo	4846	Hs.511603			Atherosclerosis. 2002 Jan;160(1):167-75	The T allele of the missense Glu(298)Asp endothelial nitric oxide synthase gene polymorphism is associated with coronary heart disease in younger individuals with high atherosclerotic risk profile.		163729	12746	2	2002	 The present data extends earlier observations by the findings that predominantly younger T allele carriers of the ecNOS Glu(298)Asp gene polymorphism with various coronary high-risk profiles had an increased risk to suffer CAD and/or MI. In contrast, no evidence was found for an association of the ecNOS 4a/b gene polymorphism with coronary heart disease.	Case:2717 German individuals who underwent coronary:angiography;Control:533 healthy German controls										
141319		acute coronary syndrome	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Lu, P.  et al. 2001	11797337	27bp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			Yi chuan xue bao. 2001 ;28(12):1093-7	Genotype and allele frequency of the 27-bp tandem repeat polymorphism in the endothelial nitric oxide synthase gene in Chinese population.		163729	12747	2	2001	Both observed genotype and allele frequencies of this VNTR in Chinese were similar to those of Japanese, while the 4/4-repeats genotype differed significantly from that of Caucasians in Spain, and all ones did from those of African-American in United States.	Cohort 316 healthy Chinese individuals 										
141320		coronary artery disease; nitric oxide	CARDIOVASCULAR	CARD	Asthma|Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Thomas, S.  et al. 2002	11894144				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2002 Mar;80(3):181-6	Effect of ecNOS polymorphisms and coronary artery disease upon exhaled nitric oxide.		163729	12748	2	2002	In this selected population low levels of eNO were thus associated with presence of the ecNOS4a allele and also with CAD.	Cohort 53 patients with ischemic chest pain 	smoking (tobacco)									
141321	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Cine, N.  et al. 2002	11903359				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Clinical genetics. 2002 Jan;61(1):66-70	Association of a polymorphism of the ecNOS gene with myocardial infarction in a subgroup of Turkish MI patients.		163729	12749	2	2002	We found that the patients with MI had the frequency of the a/a genotype 4.3%, of the a/b genotype 26.6% and the b/b genotype 69.1%. The controls, however, showed only 0.6% for a/a, 18.0% for a/b and 81.4% for the b/b genotype (P < 0.001; chi2 = 13.626). In this study, we show that myocardial infarction is associated with one subtype of ecNOS gene polymorphism.	Case myocardial infarction cases in a subgroup of the Turkish population;Control controls not specified in abstract										
141322	N	blood pressure; left ventricular mass; atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis|Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Karvonen, J.  et al. 2002	11905585	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Finland	CDC GDPinfo	4846	Hs.511603			Journal of internal medicine. 2002 Feb;251(2):102-10	Endothelial nitric oxide synthase gene Glu298Asp polymorphism and blood pressure, left ventricular mass and carotid artery atherosclerosis in a population-based cohort.		163729	12750	2	2002	 The Glu298Asp variant of the eNOS gene does not seem to be a major risk factor for cardiovascular alterations in the general population.	Case:600 middle-aged hypertensive subjects (300 men and 300:women) Oulu, Northern Finland;Control:600 controls (300 men and 300 women)										
141323	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Salvarani, C.  et al. 2002	11908569				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The Journal of rheumatology. 2002 Mar;29(3):535-40	Endothelial nitric oxide synthase gene polymorphisms in Bechet's disease.		163729	12751	2	2002	 Our findings show that Glu-Asp298 polymorphism of eNOS gene is associated with BD susceptibility.	Control:135 healthy blood donor controls from the same geographic area;Case:73 consecutive Italian patients who satisfied the International Study Group criteria for BD:Italy										
141324	Y	retinopathy, diabetic	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Taverna, M. J.  et al. 2002	11918626				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		France	CDC GDPinfo	4846	Hs.511603			Diabetic medicine. 2002 Mar;19(3):240-5	eNOS4 polymorphism of the endothelial nitric oxide synthase predicts risk for severe diabetic retinopathy.		163729	12752	2	2002	 We demonstrate in Caucasians with Type 1 diabetes that (i) eNOS4a/a is associated with absent or non-severe DR, and (ii) eNOS4b/b is associated with severe DR.	Cohort 200 unrelated Caucasian type 1 diabetic patients of long duration, randomly selected (M/F 103/97, age 44.4 +/- 12.4 years, diabetes duration 27.7 +/- 10.0 years, body mass index 24.3 +/- 3.4 kg/m2, HbA1c 8.6 +/- 1.3%) 										
141325	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus	7	7q36	NOS3	150319079	150342609		Li, C.  et al. 2001	11930675				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2001 Nov;40(11):729-32	[The association between polymorphism of endothelial nitric oxide synthase gene and diabetic nephropathy]		163729	12753	2	2001	 The T allele at exon 7 and a allele in intron 4 are related to diabetic nephropathy in Chinese patients with type with 2 diabetes mellitus. The incidence of diabetic nephropathy is higher in patients who have both T and a alleles than patients who have either T or a allele alone.	Case:143 Chinese type 2 diabetic subjects with or without:nephropathy										
141326	Y	cerebral circulation	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Nasreen, S.  et al. 2002	11950698	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Arteriosclerosis, thrombosis, and vascular biology. 2002 Apr;22(4):605-10	T-786C polymorphism in endothelial NO synthase gene affects cerebral circulation in smokers: possiblegene-environmental interaction.		163729	12754	2	2002	This result indicated that the eNOS genotype could modify cerebrovascular circulation in a general population by potentiating the adverse effect of smoking.	Cohort participants of a health examination 	smoking (tobacco)									
141327	N	coronary artery disease; myocardial infarction; angina	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Hwang, J. J.  et al. 2002	11978951	27bp		intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Taiwanese	Taiwan	CDC GDPinfo	4846	Hs.511603			Cardiology. 2002 ;97(2):67-72	The 27-bp tandem repeat polymorphism in intron 4 of the endothelial nitric oxide synthase gene is not associated with coronary artery disease in a hospital-based Taiwanese population.		163729	12755	2	2002	In conclusion, the 27-bp repeat polymorphism of the eNOS gene was not associated with CAD and the occurrence of AMI or unstable angina in a hospital-based Taiwanese population.	Cohort 219 consecutive patients who underwent coronary angiography 										
141328	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Colombo, M. G.  et al. 2002	12010932				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Heart (British Cardiac Society). 2002 Jun;87(6):525-8	Evidence for association of a common variant of the endothelial nitric oxide synthase gene (Glu(298)-->Asp polymorphism) to the presence, extent, and severity of coronary artery disease		163729	12756	2	2002	 Glu298-->Asp polymorphism of the eNOS gene appears to be associated with the presence, extent, and severity of angiographically assessed coronary artery disease.	Control:114:controls;Case:201 patients with coronary artery disease										
141329		ulcer, duodenal	OTHER	OTH	Peptic Ulcer Hemorrhage|Duodenal Ulcer	7	7q36	NOS3	150319079	150342609		Serrano, T.  et al. 2002	12018926				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Digestive diseases and sciences. 2002 May;47(5):996-1000	Bleeding duodenal ulcer and association with polymorphism of endothelial constitutive nitric oxide synthase gene.		163729	12757	2	2002	Transmission disequilibrium and case-control analyses, in two independent Caucasian cohorts, showed a novel association of the TNF(-857C) promoter polymorphism with IBD (overall P=0.001 in 587 IBD families). Further genetic associations of TNF(-857C) with IBD sub-phenotypes were seen for ulcerative colitis and for Crohn's disease, but only in patients not carrying common NOD2 mutations. The genetic data suggest a recessive model of inheritance, and we observed ex vivo lipopolysaccharide-stimulated whole-blood TNF production to be higher in healthy TNF(-857C) homozygotes.	Control:120 healthy controls;Case:188 ulcer patients										
141330	Y	preeclampsia	OTHER	OTH	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Tempfer, C. B.  et al. 2001	12044319				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension in pregnancy. 2001 ;20(1):107-18	An endothelial nitric oxide synthase gene polymorphism is associated with preeclampsia.		163729	12758	2	2001	 These data provide evidence for an association between NOS3 and preeclampsia. In defined ethnic groups, this NOS3 may offer predictive information regarding the subsequent development of preeclampsia and its clinical course.	Case patients with preeclampsia;Control:controls										
141331	Y	endothelial function	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Leeson, C. P.  et al. 2002	12065317	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Circulation research. 2002 Jun;90(11):1153-8	Glu298Asp endothelial nitric oxide synthase gene polymorphism interacts with environmental and dietary factors to influence endothelial function.		163729	12759	2	2002	The Glu298Asp polymorphism is associated with differences in endothelial responses to both smoking and n-3 FA in healthy young subjects. These findings raise the possibility of genotype-specific prevention strategies in cardiovascular disease.	Cohort 248 subjects (131 female, 117 male, aged 20 to 28) 	smoking (tobacco)									
141332	N	familial hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q36	NOS3	150319079	150342609		Hirata, R. D.  et al. 2002	12113283	G894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Brazil	CDC GDPinfo	4846	Hs.511603			Clinical chemistry and laboratory medicine. 2002 May;40(5):436-40	A method to detect the G894T polymorphism of the NOS3 gene. Clinical validation in familial hypercholesterolemia.		163729	12760	2	2002	In summary, the optimized procedure for detection of the G894T NOS3 polymorphism is rapid, simple, and does not require confirmatory tests. Using this method, we found no association between this polymorphism and familial hypercholesterolemia.	Case:35 white unrelated individuals with familial:hypercholesterolemia;Control:70:controls										
141333	Y	Fabry disease	METABOLIC	MET	Fabry Disease|Vascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Heltianu, C.  et al. 2002	12121349				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical genetics. 2002 Jun;61(6):423-9	Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease.		163729	12761	2	2002	These results indicate that more than half of the patients with Fabry's disease carry the Glu298Asp variant ( approximately 68%) and/or the 4b/a polymorphism ( approximately 55%). To the best of our knowledge, this is the first report showing an influence of eNOS gene polymorphisms in patients with Fabry's disease.	Case:19 Fabry's disease patients;Control:39 normal volunteers										
141334	Y	vasodilation	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Komatsu, M.  et al. 2002	12124201				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of physiology Heart and circulatory physiology. 2002 Aug;283(2):H557-61	ecNOS gene polymorphism is associated with endothelium-dependent vasodilation in Type 2 diabetes.		163729	12762	2	2002	These results suggest that ecNOS4a allele is a genetic risk factor for endothelial dysfunction in diabetic patients, especially in smokers.	Cohort 95 patients with Type 2 diabetes 	smoking (tobacco)									
141335	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Derebecka, N.  et al. 2002	12136949			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Poland	CDC GDPinfo	4846	Hs.511603			Acta biochimica Polonica. 2002 ;49(1):263-8	Polymorphism in intron 23 of the endothelial nitric oxide synthase gene (NOS3) is not associated with hypertension.		163729	12763	2	2002	No major differences in the distribution of the G11T polymorphism in the patients and healthy individuals were found (P > 0.05).	Case patients with hypertension;Control healthy individuals										
141336	Y	renal disease	UNKNOWN	UNK	Kidney Diseases|Disease Progression	7	7q36	NOS3	150319079	150342609		Asakimori, Y.  et al. 2002	12138283	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nephron. 2002 Aug;91(4):747-51	T(-786)-->C polymorphism of the endothelial nitric oxide synthase gene influences the progression of renal disease.		163729	12764	2	2002	 T(-786)-->C polymorphism may be involved in the progression of both nondiabetic and diabetic nephropathy, along with intron 4 polymorphism.	Control:187 healthy controls;Case:252 patients who had been on hemodialysis for less than 2 years (168 with nondiabetic nephropathy and 84 with diabetic nephropathy)										
141338	Y	platelet aggregation; nitric oxide activity	HEMATOLOGICAL	HEM		7	7q36	NOS3	150319079	150342609		Tanus-Santos, J. E.  et al. 2002	12142730				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2002 Jul;12(5):407-13	Effects of endothelial nitric oxide synthase gene polymorphisms on platelet function, nitric oxide release, and interactions with estradiol.		163729	12766	2	2002	These data demonstrate that the eNOS variants in the promoter region and in exon 7 decrease platelet-derived NO and that estradiol significantly increases platelet aggregation in homozygous for the variant in exon 7 but not in subjects with other genotypes, suggesting that eNOS variants may influence the thrombotic response.	Cohort 47 healthy caucasians 	17-alpha-estradiol									
141339	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	7	7q36	NOS3	150319079	150342609		Hefler, L. A.  et al. 2002	12144818				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Austria	CDC GDPinfo	4846	Hs.511603			Gynecologic oncology. 2002 Aug;86(2):134-7	Polymorphisms of the endothelial nitric oxide synthase gene in ovarian cancer		163729	12767	2	2002	 We are the first to report on Nos3 polymorphisms in ovarian cancer. Allelic variation within intron 4 of Nos3 is associated with an advanced tumor stage and positive lymph node involvement in ovarian cancer.	Case:130/26 patients with ovarian cancer (N=130) and patients with borderline ovarian cancer (n=26);Control:133 healthy age-matched Caucasian women										
141340	Y	pulmonary edema	OTHER	OTH	Pulmonary Edema|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Droma, Y.  et al. 2002	12176955				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			Circulation. 2002 Aug;106(7):826-30	Positive association of the endothelial nitric oxide synthase gene polymorphisms with high-altitude pulmonary edema.		163729	12768	2	2002	 Both polymorphisms of the eNOS gene were significantly associated with HAPE. A genetic background may underlie the impaired NO synthesis in the pulmonary circulation of HAPE-s. These polymorphisms could be genetic markers for predicting the susceptibility to HAPE.	Case:41 high-altitude pulmonary edema susceptible subjects:Japan;Control:51 healthy climbers										
141341	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Holla, L. I.  et al. 2002	12190658				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Czech Republic	CDC GDPinfo	4846	Hs.511603			Clinical and experimental allergy. 2002 Aug;32(8):1193-8	Prevalence of endothelial nitric oxide synthase gene polymorphisms in patients with atopic asthma		163729	12769	2	2002	 Neither the NOS3 'b' allele nor the NOS3 'b/b' genotype showed any general association with atopic asthma, but they were associated with atopy-related phenotypes. We conclude that the NOS3 gene polymorphisms may act as disease modifiers in atopic asthma phenotype in our population.	Case:163 subjects with atopic asthma from the Czech:population;Control:209 random controls										
141342	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q36	NOS3	150319079	150342609		Medeiros, R.  et al. 2002	12195160				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			European journal of cancer prevention. 2002 Aug;11(4):343-50	Endothelial nitric oxide synthase gene polymorphisms and genetic susceptibility to prostate cancer		163729	12770	2	2002	In summary, we have identified an NO-related genetic risk factor for prostate cancer that may help in understanding the molecular mechanism involved in the individual susceptibility to prostate cancer.	Case:125 prostate cancer patients;Control:153:controls										
141343	Y	nitric oxide	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Yoon, S.  et al. 2002	12204432	27bp		intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2002 Oct;324(2-Jan):113-20	Smoking status-dependent association of the 27-bp repeat polymorphism in intron 4 of endothelial nitric oxide synthase gene with plasma nitric oxide concentrations.		163729	12771	2	2002	 Our data indicate that there is substantial effect of eNOS4b/a polymorphism on the variance of plasma NO(x) concentrations in Korean population and that this effect is dependent on smoking status.	Cohort 393 healthy Korean subjects 	smoking (tobacco)									
141345		pulse pressure	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Mourad, J. J.  et al. 2002	12228851				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of the renin-angiotensin-aldosterone system. 2002 Jun;3(2):109-15	Age-related increase of pulse pressure and gene polymorphisms in essential hypertension: apreliminary study.		163729	12773	2	2002	Three main findings emerged from the study and were	Cohort subjects with untreated essential hypertension 										
141346	Y	restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis	7	7q36	NOS3	150319079	150342609		Suzuki, T.  et al. 2002	12243851	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			International journal of cardiology. 2002 Nov;86(1):71-6	The Glu298Asp polymorphism in endothelial nitric oxide synthase gene is associated with coronary in-stent restenosis.		163729	12774	2	2002	 The missense Glu298Asp variant may be an independent risk factor for in-stent restenosis.	Cohort 85 consecutive patients who were treated with Palmaz-Schatz stents 										
141347	Y	nitric oxide	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Veldman, B. A.  et al. 2002	12359981	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2002 Oct;20(10):2023-7	The Glu298Asp polymorphism of the NOS 3 gene as a determinant of the baseline production of nitric oxide.		163729	12775	2	2002	 The ecNOS Glu298Asp polymorphism is associated with reduced basal NO production and might therefore have functional implications in the development of atherosclerosis or hypertension.	Cohort 41 healthy subjects 										
141348		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Sobstyl, J.  et al. 2002	12362496				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Poland	CDC GDPinfo	4846	Hs.511603			Polski merkuriusz lekarski. 2002 Jul;13(73):3-Oct	[Analysis of association of human endothelial nitric oxide synthase gene polymorphism with myocardial infraction]		163729	12776	2	2002	It was found that TT and GT genotypes and allele T were associated with myocardial infarction patients under 50 years. We did not observed this association for older myocardial infarction patients. Allele T might be used as a genetic marker in the prophylaxis of myocardial infarction among people under 50 years.	Control:136 healthy individuals;Case:178 patients with myocardial infarction										
141349	Y	renal disease, end stage	OTHER	OTH	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Noiri, E.  et al. 2002	12364359	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2002 Oct;40(4):535-40	Association of eNOS Glu298Asp polymorphism with end-stage renal disease.		163729	12777	2	2002	These data indicated that Glu298Asp is the predisposing factor in ESRD, especially DM-derived ESRD. The functional difference in NO generation depending on eNOS with either glutamate or aspartate at position 298 was also confirmed in vitro.	Case:185 end-stage renal disease patients;Control:304 unrelated healthy individuals										
141350		diabetic nephropathy; polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Glomerulonephritis, IGA|Disease Progression	7	7q36	NOS3	150319079	150342609		Merta, M.  et al. 2002	12380903				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Renal failure. 2002 Sep;24(5):585-93	Influence of the endothelial nitric oxide synthase polymorphism on the progression of autosomal dominant polycystic kidney disease and IgA nephropathy.		163729	12778	2	2002	 Both in ADPKD and IGAN groups, there was no significant difference in the frequencies of ecNOS genotypes between patients with normal renal function and age matched patients with ESRF and between patients with normal renal function and control group. The frequency of ecNOSa allele was significantly higher in a number limited group ADPKD patients with ESRF later than in 62 years (Chi-square test p < 0.05). This higher frequency of a allele among ADPKD patients with later onset of ESRF could suggest the trend of positive influence of a allele in ADPKD patients.	Control:100 genetically unrelated healthy subjects (50 men, 50 women, mean age 51.2 +/- 8.2);Case:128/93 Czech patients with ADPKD (n=128, 62 males, 66 females) and patients with IGAN (n=93, 51 males, 42:females)										
141351		kidney disease	RENAL	REN		7	7q36	NOS3	150319079	150342609		de Prado, A.  et al. 2002	12402580				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Advances in peritoneal dialysis Conference on Peritoneal Dialysis. 2002 ;18:18-20	Endothelial nitric oxide synthase gene polymorphism in dialysis patients.		163729	12779	2	2002	No significant differences were seen between the control group and the dialysis patients, or between the HD and the PD patients.	Case:52/22 hemodialysis (n=52) and peritoneal dialysis (n=22):patients;Control:93 healthy controls										
141352	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Lin, S.  et al. 2002	12421496				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	China	CDC GDPinfo	4846	Hs.511603			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2002 Aug;41(8):513-6	[Association of ecNOS 4 b/a polymorphism and end-stage chronic renal failure]		163729	12780	2	2002	 (1) The frequency of allele a is lower in Han people of Tianjin than that in Japanese and Westeners; (2) ecNOS 4 b/a polymorphism is associated with ESCRF in Han population of Tianjin and allele a is associated with the increased risk of ESCRF.	Case:67 Chinese Han chronic end-stage renal failure:patients:Tianjin, China										
141353		nitric oxide	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Moon, J.  et al. 2002	12431478	Glu298Asp, G894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Thrombosis research. 2002 Aug;107(4-Mar):129-34	Lack of evidence for contribution of Glu298Asp (G894T) polymorphism of endothelial nitric oxide synthase gene to plasma nitric oxide levels		163729	12782	2	2002	 Our results indicate no substantial effect of G894T polymorphism on the variance of plasma NO(x) levels in healthy Korean population.	Cohort 411 healthy Korean subjects aged 19-81 years Korea 										
141355	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	7	7q36	NOS3	150319079	150342609		Gomma, A. H.  et al. 2002	12473258	Glu298Asp, T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			European heart journal. 2002 Dec;23(24):1955-62	The endothelial nitric oxide synthase (Glu298Asp and -786T>C) gene polymorphisms are associated with coronary in-stent restenosis.		163729	12784	2	2002	 In patients with coronary artery disease, the possession of the 298Asp and -786C variants of the eNOS gene are a risk factor for coronary in-stent restenosis, demonstrating the importance of the nitric oxide system in restenosis.	Cohort 205 patients who underwent elective and successful coronary artery stenting who were restudied by coronary angiogram at 6 months 										
141357	Y	hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Minushkina, L. O.  et al. 2002	12494183				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Kardiologiia. 2002 ;42(3):30-4	[NOS3 gene polymorphism and left ventricular hypertrophy in patients with essential hypertension]		163729	12786	2	2002	Therefore, we show associations between Glu allele of NOS3 (Glu298Asp) and left ventricular hypertrophy and between 4a allele (ecNOS4a/4b) and diastolic dysfunction in patients with essential hypertension.	Cohort 109 patients with essential hypertension (50 male and 59 female, mean age - 62,6-/+1,08 years) 										
141358		hypertension	CARDIOVASCULAR	CARD	Pre-Eclampsia|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Hingorani, A. D.   2003	12530931				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Current hypertension reports. 2003 Feb;5(1):19-25	Endothelial nitric oxide synthase polymorphisms and hypertension.		163729	12787	2	2003	Review article											
141359	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Colombo, M. G.  et al. 2003	12600950				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Italian		CDC GDPinfo	4846	Hs.511603			Clinical chemistry. 2003 Mar;49(3):389-95	Endothelial nitric oxide synthase gene polymorphisms and risk of coronary artery disease.		163729	12788	2	2003	 The present study provides evidence that the Glu(298)-->Asp and T(786)-->C polymorphisms of the eNOS gene are associated with the presence and severity of angiographically defined CAD in the Italian population and that those individuals carrying both eNOS variants simultaneously might have a higher risk of developing CAD.	Cohort 415 unrelated individuals who underwent coronary angiography 										
141360	N	diabetes, type 1; carotid artery damage	IMMUNE	IMM	Diabetic Retinopathy|Arteriosclerosis|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Frost, D.  et al. 2003	12605344				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Experimental and clinical endocrinology & diabetes. 2003 Feb;111(1):5-Dec	Endothelial nitric oxide synthase (ecNOS) 4 a/b gene polymorphism and carotid artery intima-media thickness in type-1 diabetic patients.		163729	12789	2	2003	 Our results do not support the hypothesis that the ecNOS 4 a/b polymorphism interacts with the development of early carotid arteriosclerosis in young type-1 diabetic patients, but they give grounds to assume that in these patients it could influence the occurence of diabetic retinopathy.	Cohort 147 type-1 diabetic patients (56 men and 91 women), mean age 30.1 +/- 6.6 years (range 14 - 44), with a diabetes duration of 13.1 +/- 8.1 years 										
141361	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Insulin Resistance	7	7q36	NOS3	150319079	150342609		Yoshimura, T.  et al. 2003	12621164				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of atherosclerosis and thrombosis. 2003 ;10(1):43-7	The relationship between insulin resistance and polymorphisms of the endothelial nitric oxide synthase gene in patients with coronary artery disease.		163729	12790	2	2003	This finding demonstrates that the T( -786)-->C mutation in the eNOS gene decreases insulin sensitivity.	Cohort 45 patients with a history of myocardial infarction (MI), angina pectoris (AP), or coronary spasm 										
141362	N	atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease|Arteriosclerosis	7	7q36	NOS3	150319079	150342609		Schmoelzer, I.  et al. 2003	12641536	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Austria	CDC GDPinfo	4846	Hs.511603			European journal of clinical investigation. 2003 Mar;33(3):191-8	Lack of association of the Glu298Asp polymorphism of endothelial nitric oxide synthase with manifest coronary artery disease, carotid atherosclerosis and forearm vascular reactivity in two Austrian populations.		163729	12791	2	2003	 Our results suggest that there is no association of the Glu298Asp polymorphism with coronary or carotid atherosclerosis or forearm vascular reactivity in these populations recruited in a country with a rather high risk for atherosclerosis. We suggest additional investigations to be performed in populations at different risk for coronary events to further elucidate the possible contribution of this polymorphism to vascular disease.	Case:240 coronary artery disease patients;Control:248:controls										
141363		blood and blood forming organ disorders	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Rossi, G. P.  et al. 2003	12651037	Glu298Asp, T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Journal of the American College of Cardiology. 2003 Mar;41(6):938-45	The T-786C and Glu298Asp polymorphisms of the endothelial nitric oxide gene affect the forearm blood flow responses of Caucasian hypertensive patients.		163729	12792	2	2003	 The T(-786)C promoter polymorphism and its interaction with exon 7 Glu298Asp affect endothelium-dependent vasodilation in mild-to-moderate PH patients and NT Caucasian subjects.	Cohort 187 subjects, of whom 137 were uncomplicated essential hypertensive patients (PH) (49 +/- 9 years, 151 +/- 11/99 +/- 5 mm Hg) and 50 healthy normotensive subjects (NT) (43 +/- 16 years, 123 +/- 10/78 +/- 7 mm Hg) 										
141364	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Heart Diseases|Hyperhomocysteinemia|Syndrome|Acute Disease	7	7q36	NOS3	150319079	150342609		Laule, M.  et al. 2003	12684755				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2003 May;81(5):305-9	Interaction of CA repeat polymorphism of the endothelial nitric oxide synthase and hyperhomocysteinemia in acute coronary syndromes:evidence of gender-specific differences.		163729	12794	2	2003	These data suggest gender-specific gene-environment interaction between the CA repeat eNOS polymorphism and homocysteine in acute coronary syndromes.	Cohort 1000 coronary artery disease patients 	homocysteine									
141365	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Monastero, R.  et al. 2003	12697290	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Italian	Italy	CDC GDPinfo	4846	Hs.511603			Neuroscience letters. 2003 May;341(3):229-32	No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.		163729	12796	2	2003	The NOS3 Glu298Asp polymorphism does not appear to influence the risk of developing sAD in an Italian population.	Case:149 sporadic Alzheimer's disease patients;Control:149 age and sex matched controls										
141366		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Hakli, T.  et al. 2003	12699878				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Finnish	Finland	CDC GDPinfo	4846	Hs.511603			Journal of the Society for Gynecologic Investigation. 2003 Apr;10(3):154-7	Endothelial nitric oxide synthase polymorphism in preeclampsia.		163729	12797	2	2003	 These genotype data in subjects from eastern Finland were not suggestive of an important contribution of the Glu298Asp polymorphism in the NOS gene on preeclampsia across populations. However, the observed association between the G allele and disease risk, of borderline significance, may imply that other polymorphism(s) in the gene may modify disease risk.	Control:113 healthy control pregnant women;Case:132 preeclamptic pregnant women:Finland										
141367	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Nagase, S.  et al. 2003	12701818				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Molecular and cellular biochemistry. 2003 Feb;244(2-Jan):113-8	Association of ecNOS gene polymorphisms with end stage renal diseases.		163729	12798	2	2003	This study clarified that the polymorphisms in intron 4 and exon 7 of eNOS gene are the genetic risk factors for ESRD. The polymorphisms in intron may change the transcriptional activity and those in exon may alter the 3 dimensional structure of the enzyme, and may affect the progression of renal diseases via decreased NO synthesis. Further study is required to clarify the detailed mechanisms.	Case hemodialyzed patients;Control healthy volunteers										
141368		kidney disease	RENAL	REN		7	7q36	NOS3	150319079	150342609		Rosas-Vargas, H.  et al. 2003	12713149				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Indian		CDC GDPinfo	4846	Hs.511603			Human biology; an international record of research. 2003 Feb;75(1):91-6	Endothelial nitric oxide synthase gene polymorphism in the Indian and Mestizo populations of Mexico.		163729	12800	2	2003	We conclude that  the low frequency of the eNOS Glu298Asp polymorphism in Indian and Mestizo populations of Mexico is related to the Asian origin of Amerindian groups.	Cohort healthy Mexican Mestizo, Huastec, Mayo, and Mayan populations 										
141369	Y	diabetes, type 2; insulin	METABOLIC	MET	Cardiovascular Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Insulin Resistance	7	7q36	NOS3	150319079	150342609		Monti, L. D.  et al. 2003	12716763				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Diabetes. 2003 May;52(5):1270-5	Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome.		163729	12801	2	2003	In conclusion, we described a significant association between eNOS gene polymorphisms and type 2 diabetes, suggesting a new genetic susceptibility factor for hyperinsulinemia, insulin resistance, and type 2 diabetes.	Case:159 type 2 diabetic patients without macrovascular:complications;Control:207 healthy controls										
141370	N	kidney transplant complications	IMMUNE	IMM	Cadaver|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Shenker, N. S.  et al. 2003	12819869				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Transplant international. 2003 Jun;16(6):391-5	The impact of endothelial nitric oxide synthase polymorphisms on long-term renal allograft outcome.		163729	12803	2	2003	We conclude that  recipient eNOS gene polymorphisms do not alter the risk of CAF after renal transplantation.	Cohort 140 renal transplant recipients who had received their transplants between 1985 and 1997 at the Oxford Transplant Centre 										
141371	Y	atherosclerosis; angina	CARDIOVASCULAR	CARD	Coronary Vasospasm|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Chang, K.  et al. 2003	12826928	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Coronary artery disease. 2003 Jun;14(4):293-9	The Glu298Asp polymorphism in the endothelial nitric oxide synthase gene is strongly associated with coronary spasm.		163729	12804	2	2003	 The Glu298Asp polymorphism in the eNOS gene is a definite risk factor for coronary spasm, especially for diffuse coronary spasm. This result supports the notion that diffuse coronary spasm is significantly associated with endothelial dysfunction, in contrast to focal spasm.	Case:102 patients with variant angina and a similar degree of atherosclerotic burden;Control:118 control participants										
141372		vascular disease	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Bilsborough, W.  et al. 2003	12860259				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Atherosclerosis. 2003 Jul;169(1):131-8	Endothelial nitric oxide synthase gene polymorphism, homocysteine, cholesterol and vascular endothelial function.		163729	12805	2	2003	In these normal community subjects, plasma homocysteine and HDL-cholesterol were predictors of FMD despite subjects being recruited without regard to these variables and despite normal plasma levels.	Cohort 60 normal healthy subjects 										
141373		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Erbs, S.  et al. 2003	12907461			promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Arteriosclerosis, thrombosis, and vascular biology. 2003 Oct;23(10):1814-9	Promoter but not exon 7 polymorphism of endothelial nitric oxide synthase affects training-induced correction of endothelial dysfunction.		163729	12806	2	2003	 These results suggest that the presence of either one of the polymorphisms attenuates endothelium-dependent vasodilatation in CAD patients. Only the promoter polymorphism might have an adverse effect on training-induced improvement in endothelial function.	Cohort 67 patients with coronary artery disease 	physical activity									
141374	Y	hypertension, cirrhotic portal	CARDIOVASCULAR	CARD	Hypertension, Portal|Liver Cirrhosis	7	7q36	NOS3	150319079	150342609		Cheng, Y. Q.  et al. 2003	12921626				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Zhonghua yi xue za zhi. 2003 Jul;83(13):1116-21	[The association between polymorphism of endothelial nitric oxide synthase gene and cirrhotic portal hypertension]		163729	12807	2	2003	 The T allele at exon 7 and a allele in intron 4 are associated with the occurrence of portal hypertension in patients with liver cirrhosis. The ocurrence of portal hypertension with liver cirrhosis is higher in patients who have both T and a allele than patients who have either T or a allele alone, which is an independent risk in occurrence of portal hypertension, respectively. TGab may be susceptibility genotype of portal hypertension.	Case:106 patients with liver cirrhosis due to HBV;Control:108:controls										
141375	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Rodriguez-Esparragon, F. J.  et al. 2003	12923396				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2003 Sep;21(9):1649-55	Peroxisome proliferator-activated receptor-gamma2-Pro12Ala and endothelial nitric oxide synthase-4a/bgene polymorphisms are associated with essential hypertension		163729	12808	2	2003	 Both analyzed polymorphisms were associated in a synergistic manner with hypertension. This effect manifested only in those subjects with normal homocysteine plasma values. Our findings suggest complex genotype-environmental interactions on hypertensive risk.	Control:223 normotensive matched controls;Case:235 subjects with arterial hypertension										
141376	Y	kidney dysfunction	RENAL	REN	Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Wong, T. Y.  et al. 2003	14520629				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			American journal of kidney diseases. 2003 Oct;42(4):781-6	Association of ENOS polymorphism with basal peritoneal membrane function in uremic patients.		163729	12809	2	2003	 ENOS4(a/b) gene polymorphism is associated with basal peritoneal permeability in uremic Chinese patients.	Cohort 86 Chinese incident peritoneal dialysis patients 										
141377	N	high altitude pulmonary edema	OTHER	OTH	Pulmonary Edema|Genetic Predisposition to Disease|Altitude Sickness	7	7q36	NOS3	150319079	150342609		Weiss, J.  et al. 2003	14561241				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			High altitude medicine & biology. 2003 ;4(3):355-66	Lack of evidence for association of high altitude pulmonary edema and polymorphisms of the NO pathway.		163729	12810	2	2003	The results of this study suggest that none of these genetic variants plays a substantial role in the pathogenesis of HAPE in Caucasians, but does not exclude epistatic effects that might still involve the genetic systems studied here.	Case:51 mountaineers susceptible to high altitude pulmonary:edema;Control:52 mountaineers not susceptible to high altitude pulmonary edema										
141378	Y	subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Aneurysm, Ruptured	7	7q36	NOS3	150319079	150342609		Khurana, V. G.  et al. 2003	14576373	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2003 Nov;34(11):2555-9	Endothelial nitric oxide synthase T-786C single nucleotide polymorphism: a putative genetic markerdifferentiating small versus large ruptured intracranial aneurysms.		163729	12811	2	2003	 The eNOS T-786C SNP distinguishes genetically between small and large ruptured aneurysms. Although not predictive of SAH in the population at large, our data suggest that among persons with known intracranial aneurysms, eNOS T-786C genotype may be a factor influencing the size at which an aneurysm ruptures, a finding that should be taken into consideration along with other anatomic features of the aneurysm.	Case:52 aneurysmal subarachnoid hemorrhage (SAH) patients;Control:90 randomly selected controls										
141379	Y	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Ksiazek, P.  et al. 2003	14580231			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Molecular diagnosis. 2003 ;7(2):119-23	Endothelial nitric oxide synthase gene intron 4 polymorphism in type 2 diabetes mellitus.		163729	12812	2	2003	 Our results suggest that the ecNOS gene polymorphism can serve as a useful genetic marker of increased susceptibility to type 2 diabetes and its renal complications.	Control:330 healthy control subjects;Case:410 type 2 diabetics (178 with diabetic nephropathy)										
141381		coronary spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm	7	7q36	NOS3	150319079	150342609		Nakayama, M.  et al. 2003	14583681	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2003 Nov;13(11):683-8	Synergistic interaction of T-786-->C polymorphism in the endothelial nitric oxide synthase gene and smoking for an enhanced risk for coronary spasm.		163729	12814	2	2003	The T-786-->C polymorphism and smoking combine to increase the risk of coronary spasm.	Case non-smokers with C/T or C/C genotype (Group B); smokers with T/T genotype (Group C); and smokers with C/T or C/C genotype;Control non-smokers with T/T genotype	smoking (tobacco)									
141382	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Salvarani, C.  et al. 2003	14613286				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Arthritis and rheumatism. 2003 Nov;48(11):3219-23	Endothelial nitric oxide synthase gene polymorphisms in giant cell arteritis.		163729	12815	2	2003	 Our findings show that the Glu/Asp(298) polymorphism of the eNOS gene is associated with GCA susceptibility.	Control:133 population-based controls from the same geographic:area;Case:91 consecutive patients with biopsy-proven giant cell:arteritis Reggio Emilia, Italy										
141383		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Zhou, R.  et al. 2003	14619577				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Sichuan da xue xue bao Yi xue ban. 2003 Oct;34(4):671-3	[Detection of endothelial nitric oxide synthase gene polymorphism in preeclampsia]		163729	12816	2	2003	 The eNOS 4 polymorphism may be not associated with preeclampsia. Further studies are needed to confirm the eNOS gene polymorphism with preeclampsia.	Case:15 preeclampsia pregnant women with their infants;Control:16 normal pregnant women with their infants										
141384	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease|Neovascularization, Pathologic	7	7q36	NOS3	150319079	150342609		Ghilardi, G.  et al. 2003	14623178	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nitric oxide. 2003 Sep;9(2):118-22	Vascular invasion in human breast cancer is correlated to T-->786C polymorphism of NOS3 gene.		163729	12817	2	2003	 Our results suggest that T allele reduction at the NOS3 promoter region may reduce vascular invasion in breast cancer and consequently reduce metastatic spread and be a favorable prognostic factor. These results need further validation in larger studies.	Case:71 patients operated for breast cancer and followed for 6-30 months (median 21;Control:91 age and sex matched tumour-free subjects										
141385	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Lee, Y. J.  et al. 2003	14624405	27bp		intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	CDC GDPinfo	4846	Hs.511603			Metabolism:  clinical and experimental. 2003 Nov;52(11):1448-53	Association of a 27-bp repeat polymorphism in intron 4 of endothelial constitutive nitric oxide synthase gene with serum uric acid levels in Chinese subjects with type 2 diabetes.		163729	12818	2	2003	Our results suggest that SUA levels may be associated with NO activity and can be genetically predetermined.	Control:398 nondiabetic subjects;Case:800 patients with type 2 diabetes										
141386	Y	pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Pulmonary Disease, Chronic Obstructive|Hypertrophy, Left Ventricular	7	7q36	NOS3	150319079	150342609		Yildiz, P.  et al. 2003	14682408				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Respiratory medicine. 2003 Dec;97(12):1282-8	Gene polymorphisms of endothelial nitric oxide synthase enzyme associated with pulmonary hypertension in patients with COPD.		163729	12820	2	2003	In conclusion, BB-type polymorphism of the eNOS gene has been associated with PH in addition to hypoxemia. However, ACE gene polymorphism was not found to be associated with PH.	Control:40 healthy controls;Case:42 chronic obstructive pulmonary disease										
141387	Y	sickle cell anemia	METABOLIC	MET	Anemia, Sickle Cell|Syndrome|Acute Disease|Genetic Predisposition to Disease|Chest Pain	7	7q36	NOS3	150319079	150342609		Sharan, K.  et al. 2004	14687036	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			British journal of haematology. 2004 Jan;124(2):240-3	Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease.		163729	12821	2	2004	Multiple logistic regression analysis showed that relative risk of ACS was 8.695 (P = 0.0076, 95% confidence interval 1.761-42.920) for female carriers of C-786. eNOS T-786C is a gender-specific genetic modifier that is associated with increased susceptibility to ACS in female SCD patients.	Cohort African-American sickle cell disease patients 										
141388	N	purpura, Henoch-Schonlein	IMMUNE	IMM	Purpura, Schoenlein-henoch|Disease Susceptibility	7	7q36	NOS3	150319079	150342609		Amoli, M. M.  et al. 2004	14760800				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The Journal of rheumatology. 2004 Feb;31(2):299-30	Lack of association between endothelial nitric oxide synthase polymorphisms and Henoch-Sch????nlein purpura.		163729	12822	2	2004	 Our results do not support a role for these polymorphisms in the susceptibility to HSP.	Control:117 ethnically matched controls;Case:50 patients from Northwest Spain with primary cutaneous vasculitis classified as Henoch-Schonlein:purpura Northwest Spain										
141389	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Park, K. W.  et al. 2004	14966047				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDPinfo	4846	Hs.511603			Heart (British Cardiac Society). 2004 Mar;90(3):282-5	Association of endothelial constitutive nitric oxide synthase gene polymorphism with acute coronary syndrome in Koreans		163729	12823	2	2004	 The non-BB genotype of the ecNOS 4a/4b gene polymorphism is a protective factor against the development of ACS. The GG genotype of the ecNOS Glu298Asp polymorphism exerts a benefit in addition to the non-BB genotype in the Korean population.	Control:142 control participants;Case:164 patients with acute coronary syndrome:Korea										
141390	Y	homocystinuria	METABOLIC	MET	Angina, Unstable|Myocardial Infarction|Hyperhomocysteinemia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2004	14999203	T-786C, G894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American heart journal. 2004 Mar;147(3):516-21	Influence of endothelial nitric oxide synthase gene polymorphisms (G894T, 4a4b, T-786C) and hyperhomocysteinemia on the predisposition to acute coronary syndromes.		163729	12824	2	2004	 The presence of the eNOS 4a4a genotype represents a predisposing condition to ACS and in particular to acute myocardial infarction. Moreover, our data provide the evidence that the -786CC pattern modulates the susceptibility to ACS in 4a4a homozygotes and in hyperhomocysteinemic patients.	Case:477 consecutive patients with acute coronary syndrome:Italy;Control:537 unrelated controls										
141391		memory impairment	AGING	AGE	Cognition Disorders	7	7q36	NOS3	150319079	150342609		Sole-Padulles, C.  et al. 2004	15016421				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Neuroscience letters. 2004 Mar;358(1):8-May	Poorer cognitive performance in humans with mild cognitive impairment carrying the T variant of the Glu/Asp NOS3 polymorphism.		163729	12825	2	2004	These results suggest that the T allele is a genetic risk factor for cognitive impairment in the elderly.	Control:136:controls;Case:62 mild cognitively impaired subjects										
141392	Y	myocardial infarct; heart disease, ischemic; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Myocardial Ischemia|Coronary Disease|Myocardial Infarction|Disease Progression|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Agema, W. R.  et al. 2004	15068395				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clin Sci (Lond).. 2004 Sep;107(3):255-61	An integrated evaluation of endothelial constitutive nitric oxide synthase polymorphisms and coronary artery disease in men		163729	12826	2	2004	We conclude that  the E/D298 polymorphism is most consistently associated with CAD, but not with progression of atherosclerosis. The E allele is associated with CAD and MI, whereas the D allele is associated with ischaemia.	Control:691 population-based sex-matched controls;Case:760 patients with coronary artery disease										
141394	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2004	15079780				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			European journal of vascular and endovascular surgery. 2004 May;27(5):540-4	Influence of eNOS gene polymorphisms on carotid atherosclerosis		163729	12828	2	2004	Our findings suggest that the 4a allele and the eNOS combined genotypes are independent predisposing factors to carotid atherosclerosis.	Case:304 consecutive patients with severe carotid stenosis:(>/=70%);Control:544:controls										
141395		brain hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Vasospasm, Intracranial|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Khurana, V. G.  et al. 2004	15091109				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of cerebral blood flow and metabolism. 2004 Mar;24(3):291-7	Endothelial nitric oxide synthase gene polymorphisms predict susceptibility to aneurysmal subarachnoid hemorrhage and cerebral vasospasm.		163729	12829	2	2004	We believe that genetic information such as this, which can be obtained expeditiously at the time of diagnosis, may be used as a helpful adjunct to other clinical information aimed at predicting and favorably modifying the clinical course of persons with intracranial aneurysms.	Cohort 141 participants 										
141396	Y	lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Nephritis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lee, Y. H.  et al. 2004	15119548			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Korea	CDC GDPinfo	4846	Hs.511603			Lupus. 2004 ;13(3):188-91	Intron 4 polymorphism of the endothelial nitric oxide synthase gene is associated with the development of lupus nephritis.		163729	12830	2	2004	In conclusion, our data show that the eNOS ab genotypes may be associated with the development of lupus nephritis, suggesting individuals who carry the 'a' allele are more susceptible to lupus nephritis than those with the 'b' allele.	Case:88 systemic lupus erythematosus patients;Control:95 healthy controls										
141397	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Tan, J. C.  et al. 2004	15132873				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		China	CDC GDPinfo	4846	Hs.511603			Zhonghua liu xing bing xue za zhi. 2004 Feb;25(2):158-61	[Study on the relationship between nitric oxide synthase gene G894T polymorphism and hypertension related risk factors in patients with essential hypertension in Chongqing city]		163729	12831	2	2004	 Although the polymorphism of eNOS gene G894T did not seem to play an important and direct role in the pathogenesis of EH it might have indirect effects through certain risk factors.	Control matched controls;Case:226 patients with essential hypertension Chongqing city	alcohol diet obesity psychological/mental state smoking (tobacco)									
141399	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Wang, Q. H.  et al. 2004	15171544				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2004 Apr;26(2):112-5	[Association between Alzheimer's disease and nitric oxide synthase III polymorphism]		163729	12833	2	2004	 There was no association between AD and NOS III G894T polymorphism in Chinese Han population.	Control:68 nromal controls;Case:75 Chinses Han Alzheimer's disease patients										
141400	Y	vulvar cancer	CANCER	CAN	Carcinoma, Squamous Cell|Vulvar Neoplasms|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Riener, E. K.  et al. 2004	15196865				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Gynecologic oncology. 2004 Jun;93(3):686-90	Polymorphisms of the endothelial nitric oxide synthase gene in women with vulvar cancer.		163729	12834	2	2004	 We are the first to report on NOS3 polymorphisms in vulvar cancer. We found that allelic variation within intron 4, but not ithin exon 7 of NOS3, influences the length of disease-free survival, but not the biological phenotype of vulvar cancer.	Control:227 healthy Caucasian women;Case:68 women with vulvar cancer										
141401		cardiovascular disease; hemodialysis	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Cardiovascular Diseases|Coronary Artery Disease|Hypertension|Hyperlipidemias|Hyperparathyroidism, Secondary|Disease Progression	7	7q36	NOS3	150319079	150342609		Asakimori, Y.  et al. 2004	15211444				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese		CDC GDPinfo	4846	Hs.511603			American journal of kidney diseases. 2004 Jul;44(1):112-20	Association between ENOS gene polymorphism and cardiovascular events in nondiabetic hemodialysis patients: a prospective study		163729	12835	2	2004	 T-786-->C polymorphism and intron 4 polymorphism, but not Glu298Asp polymorphism, of the ENOS gene can influence the risk of cardiovascular events in Japanese nondiabetic hemodialysis patients.	Cohort 335 Japanese nondiabetic hemodialysis patients 										
141403	Y	arterial stiffness	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Chen, W.  et al. 2004	15233973				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Louisiana	CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2004 Jul;17(7):553-9	Nitric oxide synthase gene polymorphism (G894T) influences arterial stiffness in adults: TheBogalusa Heart Study.		163729	12840	2	2004	These results suggest that the allelic variation (G894T) of the eNOS gene or a locus closely linked to it is associated with lower arterial wall stiffness, adjusting for BP levels, in young adults.	Cohort 118/285 African American (n=118) and white young (n=285) adults, aged 25 to 37 years 										
141404		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Perticone, F.  et al. 2004	15240653				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3606-9	Impaired endothelial function in never-treated hypertensive subjects carrying the Arg972 polymorphism in the insulin receptor substrate-1 gene.		163729	12841	2	2004	Our data strongly suggest that, by inducing endothelial dysfunction, the Arg(972) IRS-1 polymorphism may contribute to the genetic predisposition to develop cardiovascular disease.	Cohort 100 never-treated hypertensive subjects 										
141405		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Disease Progression	7	7q36	NOS3	150319079	150342609		Buraczynska, M.  et al. 2004	15299097			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nephrology, dialysis, transplantation. 2004 Sep;19(9):2302-6	Endothelial nitric oxide synthase gene intron 4 polymorphism in patients with end-stage renal disease		163729	12843	2	2004	 There was a significantly higher frequency of the ecNOS4a allele carriers among ESRD patients, both diabetic and non-diabetic, than in control subjects. This suggests that the ecNOS gene polymorphism may be associated with an increased risk of chronic renal failure.	Control:321 healthy controls;Case:706 patients with end-stage renal disease	blood pressure									
141406	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	7	7q36	NOS3	150319079	150342609		Hersberger, M.  et al. 2004	15320907				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical and experimental immunology. 2004 Sep;137(3):566-9	CCTTT-repeat polymorphism of the inducible nitric oxide synthase is not associated with HIV pathogenesis.		163729	12844	2	2004	Regulation of iNOS expression by the functional CCTTT-polymorphism does not modify HIV pathogenesis.	Control:240 healthy volunteers;Case:857 patients from the Swiss HIV Cohort Study, including rapid progressors and long-term nonprogressors										
141407	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Shin Shin, Y.  et al. 2004	15331206	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Diabetes research and clinical practice. 2004 Sep;65(3):257-65	Relations between eNOS Glu298Asp polymorphism and progression of diabetic nephropathy.		163729	12845	2	2004	 These results imply that eNOS(GT) genotype is associated with the progression of type 2 DN in Korean patients.	Cohort Korean type 2 diabetic patients 										
141408		left ventricular hypertrophy	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Karimova, I. A.  et al. 2004	15340336				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Kardiologiia. 2004 ;44(8):67-71	[Antiremodeling Activity of Nebivolol in Patients With Essential Hypertension and Various Types of 4a/4b Polymorphisms of Endothelial NO Synthase Gene]		163729	12846	2	2004	Three months of therapy with nebivolol exerted similar antihypertensive effect in all patients however only in patients with 4b/4b genotype it caused regression of left ventricular hypertrophy and normalization of endothelial vasoregulatory function.	Cohort 78 uzbek men aged 50.5+/-9.5 years with stage I-II essential hypertension 	nebivolol									
141409	Y	cholesterol, LDL; hypertension; C-reactive protein; fibrinogen; homocysteine; white blood cell count	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Chrysohoou, C.  et al. 2004	15459608				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American heart journal. 2004 Oct;148(4):733-8	Evidence for association between endothelial nitric oxide synthase gene polymorphism (G894T) and inflammatory markers: the ATTICA study.		163729	12847	2	2004	 Our results imply that G894T polymorphism of the endothelial nitric oxide synthase gene is associated with elevated levels of inflammatory and oxidative stress markers, which may partially explain the increased prevalence of G894T polymorphism among patients with cardiovascular disease.	Cohort 270/325 men (n=270, 18-87 years old) and women (n=325, 18-89 years old) Athens, Greece 										
141410	N	menarche; menopause	REPRODUCTION	REP	Body Weight	7	7q36	NOS3	150319079	150342609		Worda, C.  et al. 2004	15474760				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Maturitas. 2004 Oct;49(2):157-62	The influence of Nos3 polymorphisms on age at menarche and natural menopause.		163729	12848	2	2004	 Our data show that smoking and increased BMI, but not Glu298Asp or the T-786C polymorphisms of Nos3, are associated with an early onset of natural menopause.	Cohort 87 consecutive healthy postmenopausal women 										
141411	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Kishimoto, T.  et al. 2004	15475025	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Preventive medicine. 2004 Nov;39(5):927-31	eNOS Glu298Asp polymorphism and hypertension in a cohort study in Japanese.		163729	12849	2	2004	 These results suggested no association between the Glu298Asp gene polymorphism and the incidence of hypertension in this selected population.	Cohort retrospective cohort 1998 Cohort Japanese workers Shimane Prefecture, Japan 1992 										
141412	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Afrasyap, L.  et al. 2004	15483745				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Acta biochimica et biophysica Sinica. 2004 Oct;36(10):661-6	NO level and endothelial NO synthase gene polymorphism (Glu298Asp) in the patients with coronary artery disease from the Turkish population.		163729	12850	2	2004	Result showed that the coronary artery disease of the Turkish population seemed to develop without any alterations in eNOS Glu298Asp genotype frequency and the serum nitric oxide level.	Control:150 control subjects without any history and/or risk factors of coronaryartery disease (60.71 +/- 9.14 years old);Case:250 individuals with coronary artery disease (63.47 +/- 9.10 years old):Turkey										
141413		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Obesity|Stress	7	7q36	NOS3	150319079	150342609		Malhotra, S.  et al. 2004	15505116	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2004 Dec;44(6):866-71	Effects of NOS3 Glu298Asp Polymorphism on Hemodynamic Reactivity to Stress: Influences ofEthnicity and Obesity		163729	12852	2	2004	Results indicate the importance of examining impact of BP control-related genetic polymorphisms within the context of moderating factors such as adiposity and ethnicity.	Cohort 235/262 African American (n=235) and European American (n=262) young adults (18.5+/-2.6 years) 	obesity									
141414	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Serrano, N. C.  et al. 2004	15517628				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Colombia	CDC GDPinfo	4846	Hs.511603			The Journal of rheumatology. 2004 Nov;31(11):2163-8	Endothelial nitric oxide synthase gene polymorphism is associated with systemic lupus erythematosus.		163729	12853	2	2004	 eNOS polymorphism influences SLE predisposition. Since intron 4bb genotype is responsible for higher levels of eNOS synthesis and intron 4 ab genotype is associated with lower synthesis, our results might provide insight into the elevated levels of NO observed in SLE patients.	Control:199 controls matched for sex, age, and ethnicity;Case:88 Northwestern Colombian women with systemic lupus:erythematosus										
141415		cholesterol, LDL; blood pressure, arterial; nitric oxide production; salt sensitivity	METABOLIC	MET	Cardiovascular Diseases	7	7q36	NOS3	150319079	150342609		Hoffmann, I. S.  et al. 2004	15565175				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Hispanic	Venezuela	CDC GDPinfo	4846	Hs.511603			Journal of human hypertension. 2005 Mar;19(3):233-40	Endothelial nitric oxide synthase polymorphism, nitric oxide production, salt sensitivity and cardiovascular risk factors in Hispanics.		163729	12855	2	2004	In conclusion, the prevalence of eNOS polymorphisms is strongly determined by ethnic factors. The 4a/b gene polymorphism could be a genetic susceptibility factor for the BP response to salt intake and for the genetic control of NO production. The reduced NO production in subjects with the 4a/b genotype may be responsible for the increased sensitivity of their BP to salt.	Cohort healthy Venezuelans 	salt									
141416	N	cholesterol; cholesterol, HDL; triglycerides; atherosclerosis, coronary; cholesterol, LDL	METABOLIC	MET	Coronary Disease	7	7q36	NOS3	150319079	150342609		Letonja, M.   2004	15636445				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Acta cardiologica. 2004 Dec;59(6):618-22	The eNOS gene polymorphism does not have a major impact on lipid parameters and premature coronary artery disease in Caucasian women.		163729	12857	2	2004	In this study we found that the eNOS 4a/b polymorphism was not associated with premature CAD (OR 0.7; 95% CI 0.2-3.7; p = 0.7), but the clustering of classical risk factors has a major impact on premature CAD in Caucasian women.	Control:109 women without coronary artery disease;Case:151 Slovenian women with premature coronary artery disease (younger than 65 years)										
141417	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage	7	7q36	NOS3	150319079	150342609		Akagawa, H.  et al. 2005	15658098	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of neurosurgery. 2005 Jan;102(1):68-71	Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size		163729	12858	2	2005	 The eNOS T-786C SNP genotype does not influence the size of aneurysms.	Control:214/191 Japanese (n=214) and Korean (n=191) healthy control:volunteers;Case:336/191 Japanese (n=336) and Korean (n=191) patients with intracranial aneurysm										
141418	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Gouni-Berthold, I.  et al. 2005	15662218				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2005 Feb;23(2):301-8	Peroxisome proliferator-activated receptor-gamma2 Pro12Ala and endothelial nitric oxide synthase-4a/b gene polymorphisms are not associated with hypertension in diabetes mellitus type 2.		163729	12859	2	2005	 In DM2 the Pro12Ala and 4a/b gene polymorphisms of the PPARgamma2 and eNOS genes, respectively, are not associated with systolic or diastolic blood pressure, either in men or in women. Our results in a large cohort fail to confirm reports of recent studies suggesting an association of lower blood pressure in patients with DM2 and carriers of Pro12Ala polymorphism.	Cohort 395 patients with type 2 diabetes (225 men and 170 women) from the LIANCO (Lipid-Analytic-Cologne) study 										
141419	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Karasneh, J. A.  et al. 2005	15705632				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Rheumatology (Oxford, England). 2005 May;44(5):614-7	Polymorphisms in the endothelial nitric oxide synthase gene are associated with Bechet's disease.		163729	12860	2	2005	 eNOS gene polymorphisms are associated with BD, which might contribute to the reduced NO activity observed in BD patients.	Control:106 healthy controls;Case:193 unrelated Turkish Behcet's disease patients	family history									
141420		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lapu-Bula, R.  et al. 2005	15712782				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American		CDC GDPinfo	4846	Hs.511603			Journal of the National Medical Association. 2005 Feb;97(2):197-205	The 894T allele of endothelial nitric oxide synthase gene is related to left ventricular mass in African Americans with high-normal blood pressure.		163729	12861	2	2005	 These findings, not previously described, provide important preliminary evidence to suggest an increased susceptibility to LVH in African Americans who carry the 894T variant of the eNOS gene and have high-normal blood pressure.	Case:20 African Americans (10 females/10 males) with high-normal BP (systolic BP of 130-139 and/or diastolic BP of 85-89 mmHg);Control:64 counterparts (37 females/27 males) with normal BP (<130/85 mmHg).										
141421		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Guidi, I.  et al. 2005	15718036	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Italy	CDC GDPinfo	4846	Hs.511603			Neurobiology of aging. 2005 Jun;26(6):789-94	Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients.		163729	12862	2	2005	This wild type genotype seems to be associated with LOAD. tHcy levels are significantly increased in AD compared with controls and, moreover, higher in LOAD than in EOAD, possibly in correlation with the microvascular disease occurring with aging. Besides, a contribution of the Glu/Glu genotype in increasing tHcy levels has been observed.	Control:253 age-matched controls;Case:405 Italian patients with "probable" Alzheimer's:disease										
141422	Y	atherosclerosis, coronary; hypertension	CARDIOVASCULAR	CARD	Microvascular Angina|Hypertension	7	7q36	NOS3	150319079	150342609		Nagib El-Kilany, G. E.  et al. 2004	15721845				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Cardiovascular radiation medicine. 2004 May;5(3):113-8	Nitric oxide synthase gene G298 allele Is it a marker for microvascular angina in hypertensive patients?		163729	12864	2	2004	 eNOS gene polymorphism is proved to be an important etiology in microvascular angina (x-syndrome) among hypertensive patients. In addition, the eNOS mutant gene showed a significant increase in isolated HPN and in patients with CAD.	Control:10 healthy volunteers;Case:50 hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated										
141423	N	kidney failure, chronic	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lamnissou, K.  et al. 2004	15727257				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Greece|Cyprus	CDC GDPinfo	4846	Hs.511603			Genetic testing. 2004 ;8(3):319-24	Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.		163729	12865	2	2004	This work indicates that NOS3-4 polymorphism does not show any association with the development of ESRD in this studied European population. However, examination of the data regarding progression to ESRD within 5 years or after more than 5 years following clinical diagnosis of ADPKD provided evidence of statistical difference (p = 0.048, before Bonferroni correction), with faster progression in the group of ADPKD patients who carried allele a.	Control:295 healthy Hellens;Case:361 end-stage renal disease patients:Greece & Cyprus										
141424		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Matyar, S.  et al. 2005	15748612			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2005 Apr;354(2-Jan):153-8	eNOS gene intron 4 a/b VNTR polymorphism is a risk factor for coronary artery disease in Southern Turkey.		163729	12866	2	2005	 a allele of eNOS intron 4 a/b VNTR polymorphism is not an independent predictor of CAD. eNOS intron 4 a/b polymorphism (presence of a allele) is a risk factor in addition to HT, DM, male gender, age and smoking for the development of CAD in Southern Turkey.	Cohort 266 patients (154 males and 112 females, aged between 30 and 80 years, mean 52.4+/-10.3) whose coronary arteries were evaluated by means of coronary angiography 										
141425	Y	angina, vasospastic	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Angina Pectoris	7	7q36	NOS3	150319079	150342609		Ogimoto, A.  et al. 2005	15778808	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2005 Aug;83(8):619-25	Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) in patients with coexistent hypertrophic cardiomyopathy and coronary spastic angina.		163729	12867	2	2005	In conclusion, the Asp298 variant of the eNOS gene may be associated with CSA in HCM patients. HCM patients with CSA or the Asp298 variant may need more drugs to relieve their symptoms.	Cohort 150 hypertrophic cardiomyopathy patients 										
141426	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Aneurysm, Ruptured|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Khurana, V. G.  et al. 2005	15796389				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of neurosurgery. 2005 Mar;102(3):526-31	The presence of tandem endothelial nitric oxide synthase gene polymorphisms identifying brain aneurysms more prone to rupture.		163729	12868	2	2005	 The authors have uniquely identified a set of tandem eNOS gene variations whose presence can be used to identify patients with aneurysms likely to rupture. We believe that if this finding is reproducible in a large multicenter study, in addition to known anatomical factors a rapid and cost-effective screening tool will become available to clinicians as a genetic aid to predict the risks of rupture in patients presenting with unruptured intracranial aneurysms.	Cohort 58/49 individuals presenting consecutively to the Mayo Clinic with ruptured (58 patients) or unruptured (49 patients) intracranial saccular aneurysms 										
141427		endothelial function	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Marroni, A. S.  et al. 2005	15797845				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nitric oxide. 2005 May;12(3):177-82	Consistent interethnic differences in the distribution of clinically relevant endothelial nitric oxide synthase genetic polymorphisms.		163729	12869	2	2005												
141429	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Rao, S.  et al. 2005	15825964			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American, Caucasian		CDC GDPinfo	4846	Hs.511603			Ethnicity & disease. 2005 ;15(2):191-7	Endothelial nitric oxide synthase intron 4 polymorphism is a marker for coronary artery disease in African-American and Caucasian men.		163729	12871	2	2005	 The eNOS intron 4 polymorphism may be a marker of multi-vessel CAD in African Americans and Caucasians.	Cohort 194 subjects undergoing coronary angiography 										
141430		altitude adaptation	OTHER	OTH	Anoxia	7	7q36	NOS3	150319079	150342609		Ahsan, A.  et al. 2005	15845030				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Annals of human genetics. 2005 May;69(Pt 3):260-7	Simultaneous selection of the wild-type genotypes of the G894T and 4B/ 4A polymorphisms of NOS3 associate with high-altitude adaptation.		163729	12872	2	2005												
141432		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Taverna, M. J.  et al. 2005	15890549	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nitric oxide. 2005 Aug;13(1):88-92	The T-786C and C774T endothelial nitric oxide synthase gene polymorphisms independently affect the onset pattern of severe diabetic retinopathy.		163729	12875	2	2005	These findings, supported by previous associations between eNOS4b/a polymorphism and DR, suggest that T-786C and C774T eNOS polymorphisms affect the onset pattern of severe DR.	Case:126 patients with preproliferative/proliferative diabetic retinopathy;Control:128 patients with absent/mild diabetic retinopathy										
141433	Y	homocysteine	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2005	15905312				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical chemistry. 2005 Jul;51(7):1159-64	Endothelial nitric oxide synthase -786T>C, but not 894G>T and 4a4b, polymorphism influences plasma homocysteine concentrations in persons with normal vitamin status.		163729	12876	2	2005	 The eNOS -786T>C polymorphism, but not 894G>T and 4a4b, influences plasma Hcy concentrations mildly but significantly and independently.	Cohort 1,287 unrelated persons 										
141434	N	cholesterol; cholesterol, HDL; triglycerides; atherosclerosis, coronary; cholesterol, LDL	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Milutinovic, A.  et al. 2005	15913034	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Slovene	Slovenia	CDC GDPinfo	4846	Hs.511603			Folia biologica. 2005 ;51(2):47-9	The eNOS gene polymorphism does not have a major impact on lipid parameters and premature coronary artery disease in Slovene men (Caucasians).		163729	12877	2	2005	In conclusion, we failed to demonstrate that the eNOS 4a/b gene polymorphism was a genetic marker for premature CAD in Slovene men.	Control:188 Slovene men with no history of coronary artery:disease;Case:215 Slovene men with premature coronary artery disease										
141435		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Venturelli, E.  et al. 2005	15925107	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Neuroscience letters. 2005 Jul;382(3):300-3	The T-786C NOS3 polymorphism in Alzheimer's disease: association and influence on geneexpression.		163729	12878	2	2005	In conclusion, the T-786C SNP does not seem to be a risk factor for sporadic AD, but its presence correlates with a trend toward lower NOS3 expression rate, possibly exerting a beneficial effect in AD by contributing to lower oxidative damage.	Control:360 healthy controls, matched for ethnic background, age and gender;Case:432 Italian Alzheimer's disease patients										
141437	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	7	7q36	NOS3	150319079	150342609		Reif, A.  et al. 2005	15967063				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The international journal of neuropsychopharmacology. 2006 Feb;9(1):13-20	A NOS-III haplotype that includes functional polymorphisms is associated with bipolar disorder.		163729	12881	2	2005												
141438	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Cam, S. F.  et al. 2005	16038712				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Thrombosis research. 2005 ;116(4):287-92	The G894T polymorphism on endothelial nitric oxide synthase gene is associated with premature coronary artery disease in a Turkish population.		163729	12883	2	2005	 These results suggest that premature coronary artery disease is associated with the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in our population.											
141439		atherosclerosis, coronary; atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Cardiovascular Diseases|Atherosclerosis	7	7q36	NOS3	150319079	150342609		Wolff, B.  et al. 2005	16060860	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clin Sci (Lond).. 2005 Nov;109(5):475-81	Endothelial nitric oxide synthase Glu(298)-->Asp polymorphism, carotid atherosclerosis and intima-media thickness in a general population sample.		163729	12884	2	2005												
141440		asthma	IMMUNE	IMM	Asthma	7	7q36	NOS3	150319079	150342609		Yanamandra, K.  et al. 2005	16081038				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Biochemical and biophysical research communications. 2005 Sep;335(2):545-9	Novel allele of the endothelial nitric oxide synthase gene polymorphism in Caucasian asthmatics.		163729	12885	2	2005												
141441	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Howard, T. D.  et al. 2005	16100023			promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1848-51	Promoter polymorphisms in the nitric oxide synthase 3 gene are associated with ischemic stroke susceptibility in young black women.		163729	12886	2	2005	 Promoter variants in NOS3 may be associated with ischemic stroke susceptibility among young black women.											
141442		asthma	IMMUNE	IMM		7	7q36	NOS3	150319079	150342609		Srivastava, K.  et al. 2005	16113535	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Indian		CDC GDPinfo	4846	Hs.511603			Community genetics. 2005 ;8(3):180-3	Prevalence of eNOS Glu298Asp polymorphism in healthy volunteers from a region of Northern India.		163729	12887	2	2005	 T allele had been described as susceptibility allele for CAD in several population studies. The frequency of the T allele was found to be two times higher in our subjects than that reported for Japanese and Korean populations. This study does not provide any direct evidence for eNOS gene disease associations but is the first report on the prevalence of eNOS Glu298Asp gene polymorphism in Indian subjects. Whether the observed pattern of eNOS Glu298Asp polymorphism contributes to the greater susceptibility of Asian Indians to CAD as compared to the other population groups, needs to be investigated.											
141444		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Syndrome|Acute Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			16161413				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Ukrainian	Ukraine	CDC GDPinfo	4846	Hs.511603			Tsitol Genet. 2005 Mar-Apr;39(2):49-54	[Frequencies of allelic polymorphism of endothelial NO-synthase gene in patients with acute coronary syndrome in Ukrainian population]		163729	12889	2	2005												
141445		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	7	7q36	NOS3	150319079	150342609		Antoniades, C.  et al. 2005	16168297				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of the American College of Cardiology. 2005 Sep;46(6):1101-9	Genetic polymorphism on endothelial nitric oxide synthase affects endothelial activation and inflammatory response during the acute phase of myocardial infarction.		163729	12890	2	2005	 G894T polymorphism on the eNOS gene increases the risk for premature MI and modifies the response of vascular endothelium during the acute phase of MI by affecting the release of vWF, IL-6, and oxidative stress status, an effect diminished one year after the event.											
141446		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2005	16171581	G894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of vascular surgery. 2005 Sep;42(3):415-9	eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm.		163729	12891	2	2005	 The present study showed that the eNOS G894T polymorphism is a mild modulator of the predisposition to AAA apart from traditional risk factors, suggesting a genetic influence on the molecular mechanisms responsible for this complex disease.											
141447		postural tachycardia syndrome	OTHER	OTH	Tachycardia|Syndrome	7	7q36	NOS3	150319079	150342609		Garland, E. M.  et al. 2005	16203873				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2005 Nov;46(5):1103-10	Endothelial NO synthase polymorphisms and postural tachycardia syndrome.		163729	12892	2	2005												
141448		fetal loss, late	REPRODUCTION	REP	Fetal Death	7	7q36	NOS3	150319079	150342609		Huber, A.  et al. 2005	16219514				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			European journal of obstetrics, gynecology, and reproductive biology. 2005 Oct;122(2):151-5	Polymorphisms of the Nos3 gene and unexplained late intrauterine fetal death.		163729	12893	2	2005	 We are the first to report on Nos3 polymorphisms and IUFD. While not being associated with the incidence of IUFD overall, the intron 4 Nos3 polymorphism might modulate the timing of IUFD in affected pregnancies.											
141450		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperhomocysteinemia|Constriction, Pathologic	7	7q36	NOS3	150319079	150342609		Kerkeni, M.  et al. 2005	16284093				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical chemistry. 2006 Jan;52(1):53-8	Hyperhomocysteinemia, Endothelial Nitric Oxide Synthase Polymorphism, and Risk of Coronary Artery Disease.		163729	12895	2	2005	 The G894T polymorphism of the eNOS gene is associated with the presence of CAD, and in conjunction with hyperhomocysteinemia, increased the risk of CAD severity in a Tunisian population.											
141451		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Kidney Failure, Chronic|Atherosclerosis	7	7q36	NOS3	150319079	150342609			16364824	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2005 Dec;18(12 Pt 1):1549-55	Atherosclerosis and the Glu298Asp Polymorphism of the eNOS Gene in White Patients With End-Stage Renal Disease		163729	12897	2	2005	 The T allele of eNOS gene is an independent predictor of intimal lesions and vascular remodeling and it is associated with the severity of atherosclerosis independently of ADMA.											
141452		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609			16364825	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2005 Dec;18(12 Pt 1):1556-62	Salt Intake Affects the Relation Between Hypertension and the T-786C Polymorphism in the Endothelial Nitric Oxide Synthase Gene		163729	12898	2	2005	 The presence of this mutation alone does not significantly increase the risk of hypertension. However, high salt intake interacts with the mutation and leads to a significant increase in the risk of hypertension. The T-786C mutation warrants being considered a candidate for further study with the aim of tailor-made hypertension prevention.		salt									
141454		renal disease, end stage	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Suzuki, H.  et al. 2000	11067831				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical chemistry. 2000 Nov;46(11):1858-60	Association of a missense Glu298Asp mutation of the endothelial nitric oxide synthase gene with end stage renal disease.		163729	18594	2	2000	In conclusion, Glu298Asp mutations of the eNOS gene are significantly increased not only in nondiabetic ESRD but also in ESRD associated with diabetic nephropathy. The Glu298Asp mutation may be a risk factor, but additional studies, such as in vitro measurements of eNOS activity using cultured endothelium are required.	Case:159 Japanese patients with endstage renal disease undergoing maintenance hemodialysis (96 men and 63:women);Control:270 Japanese genetically unrelated, apparently healthy control subjects (195 men and 75 women)										
141455	Y	blood pressure	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Rankinen, T.  et al. 2000	11082161				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2000 Nov;36(5):885-9	NOS3 Glu298Asp genotype and blood pressure response to endurance training: the HERITAGE family study.		163729	18595	2	2000	These data suggest that DNA sequence variation in the endothelial NO synthase gene locus is associated with the endurance training-induced decreases in submaximal exercise diastolic blood pressure and rate-pressure product in sedentary normotensive white subjects.	Cohort 471 white subjects of the HERITAGE Family Study 										
141456	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Kajiyama, N.  et al. 2000	11131266				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension research. 2000 Nov;23(6):561-5	Lack of association between T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene and essential hypertension.		163729	18596	2	2000	the T-786-->C variant was not positively associated with essential hypertension	Case:215 essential hypertension people Kyoto and Kumamoto, Japan:Cohort:233 gender and age matched controls										
141457		cardiovascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Chistiakov, D. A.  et al. 2000	11190479				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Genetika. 2000 Dec;36(12):1707-11	[Polymorphic markers of endothelial NO-synthase and angiotensin II vascular receptor genes and predisposition to ischemic heart disease]		163729	18597	2	2000	Thus, in the Moscow population the ecNOS4a/4b VNTR of the NOS3 gene and the A1166C polymorphism of the AT1 gene are associated with the IHD development. Furthermore, the correlation with the IHD revealed was much stronger for the NOS3 VNTR locus.	Control:83 unrelated healthy individuals;Case:88 patients with ischemic heart disease										
141458	Y	atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lembo, G.  et al. 2001	11239195				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Italy	CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2001 Mar;32(3):735-40	A common variant of endothelial nitric oxide synthase (Glu298Asp) is an independent risk factor for carotid atherosclerosis.		163729	18598	2	2001	 Homozygosity for Asp298, a common variant of the eNOS gene, is an independent risk factor for carotid atherosclerosis in this study population.	Cohort 375 subjects attending a hypertension center 	smoking (tobacco)									
141459	Y	placental abruption	REPRODUCTION	REP	Abruptio Placentae	7	7q36	NOS3	150319079	150342609		Yoshimura, T.  et al. 2001	11354626				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Human genetics. 2001 Mar;108(3):181-3	The missense Glu298Asp variant of the endothelial nitric oxide synthase gene is strongly associated with placental abruption.		163729	18599	2	2001	We conclude that  the presence of the Glu298Asp eNOS gene variant could be a marker of increased risk of developing placental abruption.	Control:170 subjects who had no history of hypertension, proteinuria, or thromboembolic complications during the examined pregnancy or any prior pregnancies;Case:35 patients with histories of placental abruption										
141460		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Tanus-Santos, J. E.  et al. 2001	11692081				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2001 Nov;11(8):719-25	Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants		163729	18601	2	2001	The marked interethnic differences that we found in the distribution of eNOS variants, in the estimated haplotype frequency, and in the association between variants may help us to understand how the combination of these genetic variants may influence cardiovascular diseases.	Cohort 305 ethnically well-characterized DNA samples (100 Caucasians, 100 African-Americans, and 105 Asians) 										
141461	N	cardiovascular disease	CARDIOVASCULAR	CARD	Myocardial Ischemia	7	7q36	NOS3	150319079	150342609		Jeerooburkhan, N.  et al. 2001	11711497				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2001 Nov;38(5):1054-61	Genetic and Environmental Determinants of Plasma Nitrogen Oxides and Risk of Ischemic Heart Disease		163729	18602	2	2001	These data support the hypothesis that the endothelial dysfunction observed in the blood vessels of smokers is related to reduced NO bioactivity but indicate that NOS 3 genotype does not influence significantly the level of plasma NO(x) or the risk of IHD in this population sample of middle-aged British men.	Cohort 3052 middle-aged men who were initially free of IHD and recruited from 9 UK primary care practices. Britain 										
141462	Y	preeclampsia; hypertension, pregnancy induced	REPRODUCTION	REP	Pre-Eclampsia|Hypertension	7	7q36	NOS3	150319079	150342609		Kobashi, G.  et al. 2001	11745998				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of medical genetics. 2001 Oct;103(3):241-4	Endothelial nitric oxide synthase gene (NOS3) variant and hypertension in pregnancy.		163729	18603	2	2001	Our results suggested that the Asp298 of NOS3 is a potent, independent risk factor for HP.	Case:152 women with hypertension in pregnancy, including:preeclampsia;Control:335 normal pregnant control individuals										
141463	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Wang, C. L.  et al. 2001	11802531				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Taiwanese		CDC GDPinfo	4846	Hs.511603			Journal of the Formosan Medical Association. 2001 Nov;100(11):736-40	Lack of association between the Glu298Asp variant of the endothelial nitric oxide synthase gene and the risk of coronary artery disease among Taiwanese.		163729	18604	2	2001	 In the present case-control study, we found no evidence of an association between the Glu298Asp variant of the eNOS gene and CAD/MI among Taiwanese.	Case:218 coronary artery disease patients:Taiwan;Control:218 age- and sex- matched control subjects										
141464	Y	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Persu, A.  et al. 2002	11823442				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Belgium|France	CDC GDPinfo	4846	Hs.511603			Human molecular genetics. 2002 Feb;11(3):229-41	Modifier effect of ENOS in autosomal dominant polycystic kidney disease.		163729	18605	2	2002	In conclusion, the frequent Glu298Asp polymorphism of ENOS is associated with a 5 year lower mean age at ESRD in this subset of ADPKD males. This effect could be due to a decreased NOS activity and a partial cleavage of eNOS, leading to a further decrease in the vascular production of NO.	Cohort 173 unrelated autosomal dominant polycystic kidney disease patients Belgium and the north of France 										
141465	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Hyndman, M. E.  et al. 2002	11967250				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2002 Apr;39(4):919-22	The T-786-->C mutation in endothelial nitric oxide synthase is associated with hypertension		163729	18607	2	2002	Therefore, the -786 C/C genotype in NO synthase is a significant contributing factor for increasing the risk of essential hypertension.	Cohort 705 a clinically healthy population 										
141466		coronary artery vasomotility	CARDIOVASCULAR	CARD	Coronary Vasospasm	7	7q36	NOS3	150319079	150342609		Yoshimura, M.  et al. 2000	12000044				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The American journal of cardiology. 2000 Mar;85(6):710-4	A T-786-->C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene and coronary arterial vasomotility.		163729	18608	2	2000	Taken together, these findings strongly suggest that the T-786-->C mutation increases the basal tone of the coronary artery, and enhances the response to the constrictor effects of ACh and the dilator effect of ISDN because of reducing the endothelial NO synthesis.	Cohort 100 consecutive subjects who had equivalent age, sex, and smoking status at the proximal and distal segments of the left descending coronary artery and comparing heterozygotes of the T-786-->C muation (n=32) with subjects lacking the mutation (n=68) 	acetylcholine isosorbide dinitrate									
141467	Y	carotid artery stenosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Constriction, Pathologic	7	7q36	NOS3	150319079	150342609		Ghilardi, G.  et al. 2002	12089165				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical chemistry. 2002 Jul;48(7):989-93	Independent risk factor for moderate to severe internal carotid artery stenosis: T786C mutation ofthe endothelial nitric oxide synthase gene.		163729	18609	2	2002	 C allele homozygosity in position 786 of the eNOS promoter seems to be an independent risk factor for the development of moderate to severe ICA stenosis, especially ulcerative lesions.	Control:133 healthy controls;Case:88 patients consecutively operated for ICA stenosis										
141468		thrombangiitis obliterans	UNKNOWN	UNK	Thromboangiitis Obliterans	7	7q36	NOS3	150319079	150342609		Brodmann, M.  et al. 2002	12110779				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			International angiology. 2002 Jun;21(2):169-72	Genetic evaluation of the common variant of the endothelial nitric oxide synthase (Glu(298)->		163729	18610	2	2002	 Our data do not show elevated homozygosity for the common variant Glu(298)-->Asp in patients with TAO compared to healthy controls. The limitation of our evaluation is the small number of patients, which is a general problem when evaluating patients with TAO, as this is not a common disease.	Control:149 healthy subjects;Case:42 patients with thrombangiitis obliterans										
141469		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Ray, K. K.  et al. 2002	12193156				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clin Sci (Lond).. 2002 Sep;103(3):303-10	Genetic variation at the interleukin-1 locus is a determinant of changes in soluble endothelial factors in patients with acute coronary syndromes		163729	18611	2	2002	These data indicate that, in the setting of non-ST-elevation ACS, genetic variation at the IL-1 gene locus contributes to the changes in soluble markers of endothelial inflammation.	Cohort 63 patients presenting with non-ST-elevation AC 										
141470	Y	pulmonary function; nitric oxide; Pseudomonas aeruginosa infection	CARDIOVASCULAR	CARD	Cystic Fibrosis	7	7q36	NOS3	150319079	150342609		Grasemann, H.  et al. 2002	12406848				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of respiratory and critical care medicine. 2003 Feb;167(3):390-4	Endothelial nitric oxide synthase variants in cystic fibrosis lung disease.		163729	18612	2	2002	These data suggest that the 894T variant the endothelial nitric oxide synthase gene is associated with increased airway nitric oxide formation in female CF patients, possibly affecting colonization of airways with Pseudomonas aeruginosa.	Cohort 70 cystic fibrosis patients aged 14.8+/-6.9 years (mean+/-standard deviation), with a mean forced expiratory volume in one second of 69.4+/-24.8 % predicted 										
141471	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Shimizu, T.  et al. 2002	12413777				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Diabetes research and clinical practice. 2002 Dec;58(3):179-85	Endothelial nitric oxide synthase gene and the development of diabetic nephropathy.		163729	18613	2	2002	 We conclude that there is no association of the ecNOS gene polymorphism with the development of diabetic nephropathy in Japanese patients with type 2 diabetes.	Case:123/107 Japanese patients with Type 2 diabetes mellitus, including patients with advanced diabetic nephropathy(n=123) and patients with overt proteinuria and normal serum creatinine level:(n=107);Control:203 patients with normal renal function										
141472	Y	prostate cancer	CANCER	CAN	Bone Neoplasms|Prostatic Neoplasms|Neoplasm Metastasis|Disease Progression	7	7q36	NOS3	150319079	150342609		Medeiros, R. M.  et al. 2002	12429631				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical cancer research. 2002 Nov;8(11):3433-7	Outcome in prostate cancer: association withendothelial nitric oxide synthase glu-asp298 polymorphism at exon 7		163729	18614	2	2002	 This study demonstrates a strong association between Glu-Asp298-GG genotype as a nitric oxide-related genetic factor and advanced disease and bone metastasization. The establishment of a genetic profile for each patient may be useful in the prediction of the outcome of prostate cancer patients.	Cohort 161 prostate cancer patients 										
141473	Y	insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7q36	NOS3	150319079	150342609		Ohtoshi, K.  et al. 2002	12436344				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Diabetologia. 2002 Nov;45(11):1594-601	Association of (-)786T-C mutation of endothelial nitric oxide synthase gene with insulin resistance		163729	18615	2	2002	The (-)786T-C mutation of the eNOS gene is associated with insulin resistance in both Japanese non-diabetic subjects and Type II diabetic patients.	Control:233 non-diabetic subjects;Case:301 type 2 diabetic patients										
141474	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Wei, D.  et al. 2002	12476417				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	CDC GDPinfo	4846	Hs.511603			Zhonghua yi xue yi chuan xue za zhi. 2002 Dec;19(6):471-4	[The G894T mutation of the endothelial nitric oxide synthase gene is associated with coronary atherosclerotic heart disease in Chinese]		163729	18616	2	2002	 The G894T mutation of the endothelial nitric oxide synthase gene may be a marker for genetical predisposition of CHD in Chinese Han population.	Case:106 Chinese Han patients with coronary heart disease;Control:108 unrelated healthy individuals										
141475	Y	blood flow	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Kunnas, T. A.  et al. 2002	12483466				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2002 Dec;80(12):802-7	Endothelial nitric oxide synthase genotype modulates the improvement of coronary blood flow by pravastatin: a placebo-controlled PET study.		163729	18617	2	2002	Our results suggest that adenosine-stimulated myocardial perfusion improves after treatment with pravastatin in subjects with the eNOS ba genotype but not in those with the bb genotype. This effect is not dependent on the decrease of serum cholesterol.	Cohort 43 men (aged 35+/-4 years), who were randomized to receive either 40 mg/day pravastatin ( n=21) or placebo ( n=22) for 6 months 	pravastatin									
141476		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Kimura, T.  et al. 2003	12574107				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2003 Feb;41(2):355-60	NOS3 genotype-dependent correlation between blood pressure and physical activity.		163729	18618	2	2003	In the present study, we found a significant interaction between the genotype and physical activity level on systolic blood pressure. These results might allow a better understanding of the mechanism to improve hypertension by exercise and to thereby reduce the risk of cardiovascular disease.	Cohort 832 healthy Japanese (mean age of 54.4+/-8.6 years, 372 men and 460 women) 	physical activity									
141477	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Paolo Rossi, G.  et al. 2003	12651036				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Journal of the American College of Cardiology. 2003 Mar;41(6):930-7	The T-786C endothelial nitric oxide synthase genotype is a novel risk factor for coronary artery disease in Caucasian patients of the GENICA study.		163729	18619	2	2003	 The C allele at the T(-786)C endothelial nitric oxide synthase polymorphism is associated with a higher risk of multivessel CAD in Caucasians.	Case:1,106 consecutive patients undergoing coronary:angiography;Control:119 control subjects without any cardiovascular risk:factors	age cholesterol obesity smoking (tobacco)									
141478	Y	congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	7	7q36	NOS3	150319079	150342609		McNamara, D. M.  et al. 2003	12668492				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Circulation. 2003 Apr;107(12):1598-602	Effect of the Asp298 variant of endothelial nitric oxide synthase on survival for patients with congestive heart failure.		163729	18620	2	2003	 For patients with heart failure caused by systolic function, the Asp298 variant of NOS3 is associated with poorer event-free survival, particularly in patients with nonischemic cardiomyopathy.	Cohort 469 patients (72% male, 49% ischemic; mean age, 56+/-12 years) with systolic dysfunction (left ventricular ejection fraction < or =0.45) 										
141479		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Jia, C. Q.  et al. 2003	12678961				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		China	CDC GDPinfo	4846	Hs.511603			Zhonghua liu xing bing xue za zhi. 2003 Jan;24(1):36-9	[Effects of G894T mutation in the endothelial nitric oxide synthase gene on blood pressure]		163729	18621	2	2003	 This study suggested that the G894T mutation in the endothelial nitric oxide synthase gene might serve as a major risk factor of essential hypertension in this study population.	Case:116 essential hypertensives without taking hypertensive medication screened from health workers in a steel:factory;Control:136 nromotensives screened from health workers in a steel factory										
141480	Y	hyperhomocystinemia	METABOLIC	MET	Hyperhomocysteinemia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Brown, K. S.  et al. 2003	12689917				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Northern Ireland	CDC GDPinfo	4846	Hs.511603			Arteriosclerosis, thrombosis, and vascular biology. 2003 Jun;23(6):1014-20	Genetic evidence that nitric oxide modulates homocysteine: the NOS3 894TT genotype is a riskfactor for hyperhomocystenemia.		163729	18622	2	2003	 These data indicate that the NOS3 894TT genotype is a risk factor for elevated tHcy in healthy nonsmoking adults with low serum folate and supports the hypothesis that nitric oxide modulates homocysteine through an effect on folate catabolism.	Cohort two healthy adult populations 	folate smoking (tobacco)									
141481		coronary stent outcome	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis|Coronary Thrombosis|Coronary Vasospasm|Myocardial Infarction|Acute Disease	7	7q36	NOS3	150319079	150342609		Gorchakova, O.  et al. 2003	12727149				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			European heart journal. 2003 May;24(9):820-7	Association of a genetic variant of endothelial nitric oxide synthase with the 1 year clinical outcome after coronary stent placement		163729	18623	2	2003	 In comparison with eNOS 894 G allele carriers, patients of the TT genotype were at an increased risk of death or MI within 1 year after coronary artery stenting.	Cohort 1,850 patients with coronary artery disease who were treated with stent implantation 										
141482	Y	nitric oxide	OTHER	OTH	Asthma	7	7q36	NOS3	150319079	150342609		Storm Van's Gravesande, K.  et al. 2003	12738608				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of respiratory and critical care medicine. 2003 Jul;168(2):228-31	Association of a missense mutation in the NOS3 gene with exhaled nitric oxide levels.		163729	18624	2	2003	Our results demonstrate that the endothelial nitric oxide synthase, a nitric oxide synthase constitutively expressed in epithelial cells, plays an important role in determining measured levels of exhaled nitric oxide, a marker of the asthmatic condition.	Cohort asthmatic subjects 										
141483	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Birth Weight	7	7q36	NOS3	150319079	150342609		Yoshimura, T.  et al. 2003	12867761				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Bangladesh	CDC GDPinfo	4846	Hs.511603			Gynecologic and obstetric investigation. 2003 ;56(1):3-Oct	Genetic and environmental contributions to severe preeclampsia: lack of association with theendothelial nitric oxide synthase Glu298Asp variant in a developing country.		163729	18625	2	2003	 We conclude that the presence of the Glu298Asp eNOS gene is not a marker for the increased risk of preeclampsia in a population where the level of prenatal care is such that preeclampsia is still frequently seen.	Case:112 Bangladeshi women exhibiting severe preeclampsia;Control:119 control subjects										
141484	N	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Grandone, E.  et al. 2003	12908999				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension in pregnancy. 2003 ;22(2):149-55	Does endothelial nitric oxide synthase gene variation play a role in the occurrence of hypertension in pregnancy?		163729	18626	2	2003	 Our findings argue against an association between ecNOS polymorphism and preeclampsia and support the hypothesis for a different pathogenesis of GH in respect to EH.	Control:188 normotensive women with at least one normal:pregnancy;Case:61/77/82 patients with gestational hypertension (n=61), with GH and significant proteinuria (n=77, urine protein excretion > or = 300 mg/24 h), with essential:hypertension (n=82)										
141485		giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Disease Susceptibility|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Amoli, M. M.  et al. 2003	12966609				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The Journal of rheumatology. 2003 Sep;30(9):2019-22	Endothelial nitric oxide synthase haplotype associations in biopsy-proven giant cell arteritis.		163729	18627	2	2003	 Significant differences in eNOS haplotype frequencies between GCA patients and controls may indicate a role for these polymorphisms in the susceptibility to this condition.	Control:117 ethnically matched controls;Case:57 patients with biopsy-proven GCA diagnosed at the Rheumatology Division of Hospital Xeral-Calde										
141486		retinopathy, diabetic	UNKNOWN	UNK		7	7q36	NOS3	150319079	150342609		Via, M.  et al. 2003	12974139				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Collegium antropologicum. 2003 Jun;27(1):117-24	Molecular variation in endothelial nitric oxide synthase gene (eNOS) in western Mediterranean populations.		163729	18628	2	2003	The variation found for these polymorphisms indicates that they may be a useful tool for population studies even at microgeographical level.	Cohort individuals from 6 Western Mediterranean populations (3 from Iberian Peninsula, 1 from North Africa, and 2 from Sardinia) and a sample from Ivory Coast 										
141487	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Selmi, C.  et al. 2003	12974901				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of gastroenterology and hepatology. 2003 Oct;18(10):1150-5	Genetic variants of endothelial nitric oxide synthase in patients with primary biliary cirrhosis: association with disease severity.		163729	18629	2	2003	 The authors suggest that genetic variants of eNOS are not associated with susceptibility to PBC, although the genotypes may lead to differences in disease severity and progression.	Case:109 Italian patients with primary biliary cirrhosis;Control:242 healthy subjects										
141488		acute coronary syndrome	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Wei, D. H.  et al. 2003	14610742				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			Zhejiang da xue xue bao Yi xue ban. 2003 Oct;32(5):415-7, 426	[G894T mutation of the endothelial nitric oxide synthase gene in Chinese Han nationality]		163729	18630	2	2003	 These results suggest that there are significant differences in G894T mutation of eNOS gene between the Chinese Han nationality and other ethnic populations.	Cohort 108 Chinese Han nationality unrelated healthy individuals 										
141489		physical performance	NORMALVARIATION	NV		7	7q36	NOS3	150319079	150342609		Data, S. A.  et al. 2003	14652493				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Medicine and science in sports and exercise. 2003 Dec;35(12):1991-7	eNOS T-786C genotype, physical activity, and peak forearm blood flow in females.		163729	18631	2	2003	 These results of the interactive effects suggest that young females possessing a C allele may reduce their resting FVR by improving their cardiovascular fitness level, but TT homozygotes, who may have normal eNOS gene function, may not improve their resting FVR with improvements in cardiovascular fitness. Furthermore, regardless of physical activity level, the TT genotype showed a favorable hemodynamic response during reactive hyperemia compared with the C allele carriers.	Control healthy Caucasian sedentary women;Case endurance-trained women										
141490		hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity	7	7q36	NOS3	150319079	150342609		Jia, C. Q.  et al. 2003	14680603				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2003 Sep;37(5):365-7	[Relationship between mutation of exon G894 T of endothelial nitric oxide synthase gene and overweight to essential hypertension]		163729	18632	2	2003	 Interaction between mutation of the 7th exon G894T of eNOS gene and overweight played an important role in essential hypertension of the studied population. Control of body weight in the population with both G894T mutation and overweight could markedly decrease their risk of hypertension.	Case:116 patients with essential hypertension taking no medications selected from steel workers;Control:136 normotensive controls selected from steel workers										
141491		stroke, lacunar; leukoencephalopathy	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction	7	7q36	NOS3	150319079	150342609		Hassan, A.  et al. 2004	14963277				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2004 Mar;35(3):654-9	Endothelial Nitric Oxide Gene Haplotypes and Risk of Cerebral Small-Vessel Disease		163729	18633	2	2004	 The intron 4ab insertion/deletion genotype was associated with isolated lacunar infarction. Haplotype and functional studies suggested that the protective effect of the 4a variant could be mediated through changes in eNOS promoter activity and increased NO levels. The specific association with isolated symptomatic lacunar infarction and not ischemic leukoaraiosis may reflect different etiopathogeneses of the 2 subtypes. Lack of NO could predispose to localized microatheroma in proximal arterioles rather than diffuse arteriosclerosis affecting distal perforating vessels.	Case:300 patients with cerebral small-vessel disease;Control:600 community controls										
141492	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia|Myocardial Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Casas, J. P.  et al. 2004	15007011				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Circulation. 2004 Mar;109(11):1359-65	Endothelial nitric oxide synthase genotype and ischemic heart disease: meta-analysis of 26 studiesinvolving 23028 subjects.		163729	18634	2	2004	 Individuals homozygous for the Asp298 and intron-4a alleles of eNOS are at moderately increased risk of IHD. These findings support the proposal that common genetic variations in the eNOS gene contribute to atherosclerosis susceptibility, presumably by effects on endothelial NO availability.	Control:13,161 controls from 26 studies;Case:9,867 cases of ishemic heart disease from 26 studies										
141493	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Hyperhomocysteinemia|Recurrence	7	7q36	NOS3	150319079	150342609		Heil, S. G.  et al. 2004	15099281				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of thrombosis and haemostasis. 2004 May;2(5):750-3	The 894 G > T variant of endothelial nitric oxide synthase (eNOS) increases the risk of recurrent venous thrombosis through interaction with elevated homocysteine levels.		163729	18635	2	2004	 The results of the present study demonstrate that the eNOS 894 G > T variation interacts with elevated tHcy levels, leading to an increased risk of recurrent thrombotic events. This interaction points in the direction of S-nitrosation as a mechanism by which homocysteine exerts its detrimental effects on the hemostatic system.	Case:170 cases with a history of recurrent venous thrombosis;Control:433 controls from the general population										
141494	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Cardiovascular|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Landau, R.  et al. 2004	15110896				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	New York	CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2004 May;17(5 Pt 1):391-4	No association of the Asp298 variant of the endothelial nitric oxide synthase gene with preeclampsia.		163729	18636	2	2004	 In contrast to the findings in Japanese women, preeclampsia was not associated with the Asp variant of eNOS in an American population.	Control:397 Hispanic and white normotensive pregnant control:subjects;Case:64 women with preeclampsia:US										
141495		blood pressure, arterial	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Li, R.  et al. 2004	15233974				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American	Georgia	CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2004 Jul;17(7):560-7	Relation of endothelial nitric oxide synthase gene to plasma nitric oxide level, endothelial function, and blood pressure in African Americans.		163729	18637	2	2004	 We reveal a positive association between plasma NOx level and BP in normotensive African Americans who carry the a allele of eNOS4. Because the frequency of the rare allele a is significantly higher in African Americans than in other ethnic groups, this finding may provide a clue to understanding the genetic susceptibility to hypertension in African Americans.	Cohort 60 healthy African Americans, 30 men and 30 women aged 18 to 73 years 										
141496	Y	hypertension; insulin; metabolic syndrome; hypertriglyceridemia	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Metabolic Syndrome X|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fernandez, M. L.  et al. 2004	15269839				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Thrombosis and haemostasis. 2004 Aug;92(2):413-8	Association of NOS3 gene with metabolic syndrome in hypertensive patients.		163729	18638	2	2004	These data suggest a role of the NOS3 gene in the pathogenesis of metabolic syndrome in hypertensive patients.	Case:105 hypertensive patients;Control:94 unselected healthy controls										
141497	Y	retinopathy, diabetic; macular edema	UNKNOWN	UNK	Diabetic Retinopathy|Macular Degeneration|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Awata, T.  et al. 2004	15333482				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			Diabetes care. 2004 Sep;27(9):2184-90	Endothelial nitric oxide synthase gene is associated with diabetic macular edema in type 2 diabetes		163729	18639	2	2004	 The present study suggests that the eNOS gene is a novel genetic risk factor for diabetic macular edema. The eNOS gene polymorphisms may contribute to the development of macular edema by impairing basal eNOS expression and resulting in the breakdown of the blood-retina barrier.	Control:186 healthy subjects;Case:226 patients with type 2 diabetes (110 patients without retinopathy, 46 patients with nonproliferative diabetic retinopathy, and 71 patients with proliferative diabetic retinopathy)										
141498	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Serrano, N. C.  et al. 2004	15364897				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Colombia	CDC GDPinfo	4846	Hs.511603			Hypertension. 2004 Nov;44(5):702-7	Endothelial NO synthase genotype and risk of preeclampsia: a multicenter case-control study.		163729	18640	2	2004	The eNOS Glu298Asp polymorphism and the Asp298-786C-4b haplotype are risk factors for preeclampsia.	Case:322 preeclamptic young pregnant women recruited from 5:citites;Control:522:controls										
141499	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Chen, W.  et al. 2004	15466663				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2004 Nov;44(5):668-73	Gender-Specific Influence of NO Synthase Gene on Blood Pressure Since Childhood. The Bogalusa Heart Study		163729	18641	2	2004	In conclusion, the endothelial NO synthase gene influences the long-term burden and trend of blood pressure since childhood in females and may contribute to their predisposition to hypertension.	Cohort 347/801 blacks (n=347) and whites (n=801) from a community-based longitudinal cohort, aged 18 to 45 years who have been examined serially 4 to 13 times (7705 observations) over an on average of 23.4 years 										
141500	Y	vessel stenosis	UNKNOWN	UNK	Vascular Diseases|Constriction, Pathologic	7	7q36	NOS3	150319079	150342609		Yoon, S.  et al. 2005	15698605				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2005 Mar;353(2-Jan):177-85	Endothelial nitric oxide synthase gene is associated with vessel stenosis in Korean population.		163729	18642	2	2005	 Our data suggest that eNOS gene polymorphisms may play an important role in the pathogenesis of vessel stenosis in Korean population.	Control:276 controls without stenosis;Case:656 subjects having 1-, 2-, and 3-stenosed vessels										
141501		nitric oxide	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Nagassaki, S.  et al. 2005	15733970				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Thrombosis research. 2005 ;115(5):375-9	eNOS genotype is without effect on circulating nitrite/nitrate level in healthy male population.		163729	18643	2	2005	 Our study provides strong evidence that the T(+IhI-786)C polymorphism does not affect plasma NOx concentrations, which are believed to reflect endogenous production of NO. Therefore, our results suggest that this polymorphism does not affect endogenous NO production.	Cohort 200 healthy subjects (males, Caucasians, nonsmokers, 18+IBM-56 years of age, and not taking any medication) 										
141502		glaucoma	VISION	VIS	Glaucoma, Open-Angle	7	7q36	NOS3	150319079	150342609		Lin, H. J.  et al. 2005	15756709				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of clinical laboratory analysis. 2005 ;19(2):87-92	Distribution of oxidation enzyme eNOS and myeloperoxidase in primary open angle glaucoma.		163729	18644	2	2005	Superoxide is closely related to glaucoma, and eNOS and MPO are two important enzymes in the free radical pathway. However, polymorphisms of the eNOS intron-4, eNOS promotor -786, and MPO -463 gene polymorphisms did not reveal significant differences between POAG patients and controls in our study. The use of these agents and other superoxide-related genes for clinical applications requires further investigation.	Control:100 healthy controls;Case:66 patients with primary open angle glaucoma										
141503		endothelial nitric oxide activity	OTHER	OTH		7	7q36	NOS3	150319079	150342609			15864134				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics and genomics. 2005 May;15(5):329-36	Increase in the transcriptional activity of the endothelial nitric oxide synthase gene with fluvastatin: a relation with the -786T>Cpolymorphism		163729	18645	2	2005			fluvastatin simvastatin									
141504		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Hypercholesterolemia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Pereira, A. C.  et al. 2005	15916766				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Atherosclerosis. 2006 Jan;184(1):193-200	Endothelial nitric oxide synthase gene variant modulates the relationship between serum cholesterol levels and blood pressure in the general population: New evidence for a directeffect of lipids in arterial blood pressure.		163729	18646	2	2005	 Taken together, these results provide evidence supporting the role of the eNOS Glu298Asp gene variant in modulating blood pressure through a relationship with lipid levels.	Cohort 1,577 individuals randomly selected from the general population 	cholesterol triglycerides									
141505	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Jia, C. Q.  et al. 2005	15921596				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Zhonghua liu xing bing xue za zhi. 2005 Jan;26(1):51-3	[Association between G894T mutation in endothelial nitric oxide synthase gene and premature coronary heart disease]		163729	18647	2	2005	 This study suggested that G894T mutation in endothelial nitric oxide synthase gene might serve as a major risk factor to the pathogenesis of P-CHD in this study population.	Case:132 hospital-based premature coronary heart disease patients diagnosed at/before age 55 for males and 65 for females;Control:172 hospital-based coronary heart disease patients (not:premature)										
141506	Y	nitric oxide	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Metzger, I. F.  et al. 2005	16007000				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics and genomics. 2005 Aug;15(8):565-570	Endothelial nitric oxide synthase gene haplotypes associated with circulating concentrations of nitric oxide products in healthy men.		163729	18648	2	2005	 While eNOS genotypes are not significantly associated with changes in the circulating NOx concentrations, the specific eNOS haplotype that includes the 'C', '4b', and 'Glu' alleles is associated with lower circulating NOx concentrations.											
141507		coronary vasomotion	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Naber, C. K.  et al. 2005	16032374				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Basic research in cardiology. 2005 Sep;100(5):453-60	Relevance of the NOS3 T-786C and G894T variants for cholinergic and adrenergic coronary vasomotor responses in man.		163729	18649	2	2005	 Our findings suggest a pathophysiologically relevant role for the T-786C polymorphism in human coronary vasomotion. The observed linkage disequilibrium between both NOS3 genotypes deserves further research in future studies.											
141510		diabetes, type 2; glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	7	7q36	NOS3	150319079	150342609		Franks, P. W.  et al. 2005	16123371				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Diabetes. 2005 Sep;54(9):2795-801	Variation in the eNOS gene modifies the association between total energy expenditure and glucose intolerance.		163729	18653	2	2005			energy expenditure									
141511		glaucoma; glaucoma, primary open-angle	VISION	VIS	Migraine Disorders|Glaucoma, Open-Angle	7	7q36	NOS3	150319079	150342609		Logan, J. F.  et al. 2005	16123422				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Investigative ophthalmology & visual science. 2005 Sep;46(9):3221-6	Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine.		163729	18654	2	2005	 This study provides evidence of an association between the NOS3 gene and subjects with glaucoma who have a history of migraine. Unlike in other studies, no evidence was found of an association between ET-1 and glaucoma.											
141512		endothelial function	OTHER	OTH	Cardiovascular Diseases|Hyperemia	7	7q36	NOS3	150319079	150342609		Kathiresan, S.  et al. 2005	16129794				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Circulation. 2005 Sep;112(10):1419-27	Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community.		163729	18655	2	2005	 A parsimonious set of SNPs captures common genetic variation at the NOS3 locus. A conservative interpretation of our results is that, accounting for multiple testing, we did not observe statistically significant relations between NOS3 sequence variants and endothelial function measures in either sex. The nominal associations of select NOS3 variants with endothelial function in men (unadjusted for multiple testing) should be viewed as hypothesis-generating observations and may merit testing in other cohorts and experimental designs.											
141513		cardiac death	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Cardiovascular Diseases	7	7q36	NOS3	150319079	150342609		Testa, A.  et al. 2005	16148605				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2005 Oct;23(10):1825-30	The GLU298ASP variant of nitric oxide synthase interacts with asymmetric dimethyl arginine in determining cardiovascular mortality in patients with end-stage renal disease.		163729	18656	2	2005	 The T allele of the Glu298Asp polymorphism predicts cardiovascular mortality and interacts with plasma ADMA in determining this outcome in dialysis patients.											
141514		uric acid	METABOLIC	MET	Hyperuricemia	7	7q36	NOS3	150319079	150342609		Nishio, K.  et al. 2005	16154428				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese		CDC GDPinfo	4846	Hs.511603			Metabolism:  clinical and experimental. 2005 Oct;54(10):1302-8	Possible interactions of the endothelial constitutive nitric oxide synthase genotype with alcohol drinking and walking time for high serum uric acid levels among Japanese.		163729	18657	2	2005												
141515	Y	coronary vasculopathy	CARDIOVASCULAR	CARD	Coronary Disease|Chronic Disease	7	7q36	NOS3	150319079	150342609		Lamblin, N.  et al. 2005	16164743				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			BMC cardiovascular disorders [electronic resource]. 2005 Sep;5:27	A common variant of endothelial nitric oxide synthase (Glu298Asp) is associated with collateral development in patients with chronic coronary occlusions.		163729	18658	2	2005	 Collateral development is lower in patients with the Asp298 variant. This may be explained by the decreased NOS activity in patients with the Asp298 variant. Further studies will have to determine whether increasing eNOS activity in humans is associated with coronary collateral development.											
141516		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Sandrim, V. C.  et al. 2005	16168996				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Atherosclerosis. 2005	Susceptible and protective eNOS haplotypes in hypertensive black and white subjects.		163729	18659	2	2005												
141517		hematology indices	HEMATOLOGICAL	HEM	Hearing Loss, Sensorineural	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2005	16244776				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical and applied thrombosis/hemostasis. 2005 Oct;11(4):481-8	eNOS Gene Affects Red Cell Deformability: Role ofT-786C, G894T, and 4a/4b Polymorphisms.		163729	18660	2	2005												
141518		cleft lip with cleft palate; cleft lip without cleft palate; cleft lip	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	7	7q36	NOS3	150319079	150342609		Shaw, G. M.  et al. 2005	16269583				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of epidemiology. 2005 Dec;162(12):1207-14	Endothelial Nitric Oxide Synthase (NOS3) Genetic Variants, Maternal Smoking, Vitamin Use, and Risk of Human Orofacial Clefts.		163729	18661	2	2005			folate smoking (tobacco), maternal									
141519		lead toxicity	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Barbosa, F. = Jr et al. 2005	16271308				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nitric oxide. 2006 Feb;14(1):58-64	eNOS genotype-dependent correlation between whole blood lead and plasma nitric oxide products concentrations.		163729	18662	2	2005												
141520	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lee, Y. C.  et al. 2000	11030378				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Allergy. 2000 Oct;55(10):959-63	Gene polymorphisms of endothelial nitric oxide synthase and angiotensin-converting enzyme in patients with asthma.		163729	23116	2	2000	 These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of asthma. However, the severity of asthma may not be influenced by polymorphisms of the ecNOS and ACE genes.	Control:121 healthy subjects;Case:310 patients with bronchial asthma										
141521	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Cheon, K. T.  et al. 2000	11361058				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Lung. 2000 Nov-Dec;178(6):351-60	Gene polymorphisms of endothelial nitric oxide synthase and angiotensin-converting enzyme in patients with lung cancer.		163729	23117	2	2000	These results suggest that polymorphisms of the ecNOS gene, but not the ACE gene, may be associated with the development of lung cancer.	Control:121 healthy subjects;Case:218 lung cancer patients										
141522		diabetes, type 2; nephropathy	METABOLIC	MET	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Taniwaki, H.  et al. 2001	11522715				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			Diabetes care. 2001 Sep;24(9):1653-60	Relations between ACE gene and ecNOS gene polymorphisms and resistive index in type 2 diabetic patients with nephropathy.		163729	23118	2	2001	 These results suggest that intrarenal hemodynamic abnormalities are present as a feature of the progression of nephropathy in type 2 diabetes, and that they are associated with age, duration of diabetes, decreased creatinine clearance, and blood pressure, but not with the genetic factors of the ACE and ecNOS gene polymorphism in nephropathy of type 2 diabetes.	Cohort 155 type 2 diabetic patients who ranged in age from 40 to 72 years (92 men and 63 women) Japan 										
141523		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2002	12015245				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Italy	CDC GDPinfo	4846	Hs.511603			The American journal of medicine. 2002 May;112(7):540-4	High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis		163729	23119	2	2002	 Our findings of an increased risk of systemic sclerosis in ACE D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the pathogenesis of the disease.	Control:112 control subjects;Case:73 consecutive patients (47 with limited and 26 with diffuse cutaneous systemic sclerosis)										
141524		atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation	7	7q36	NOS3	150319079	150342609		Gensini, F.  et al. 2003	12687832				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pacing and clinical electrophysiology. 2003 Jan;26(1  Pt 2):295-8	Angiotensin-converting enzyme and endothelial nitric oxide synthase polymorphisms in patients with atrial fibrillation.		163729	23120	2	2003	The results suggest a possible role of ACE DD genotype as a predisposing factor to AF and a pathophysiological mechanism of ACE inhibition in reducing the incidence of AF in patients with left ventricular dysfunction.	Case:148 patients with persistent atrial fibrillation;Control:210 control subjects										
141525		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609		Eisenhardt, A.  et al. 2003	12837457				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Urology. 2003 Jul;62(1):152-7	ACE gene I/D and NOS3 G894T polymorphisms and response to sildenafil in men with erectile dysfunction.		163729	23121	2	2003	 It appears that patients with elevated ACE serum concentrations, as associated with the D allele of the ACE I/D polymorphism, are less likely to respond to sildenafil.	Control:108 healthy male blood donors;Case:113 men with erectile dysfunction	sildenafil									
141526		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Schmidt, M. A.  et al. 2003	14989558				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Vascular medicine (London, England). 2003 ;8(3):177-83	Interactive effects of the ACE DD polymorphism with the NOS III homozygous G849T (Glu298-->Asp) variant in determining endothelial function in coronary artery disease.		163729	23122	2	2003	In conclusion, the homozygous NOS III variant (GG) status does not seem to interact additively with the ACE homozygous DD genotype in determining flow-mediated vasodilation in individuals with established atherosclerosis and pre-existent endothelial dysfunction.	Cohort 397 consecutive subjects presenting to the cardiac catheterization laboratory of the University of Michigan over a period of 18 months US 										
141527	Y	erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Genetic Predisposition to Disease|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609		Rosas-Vargas, H.  et al. 2004	15292102				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Mexican	Mexico	CDC GDPinfo	4846	Hs.511603			Journal of andrology. 2004 Sep-Oct;25(5):728-32	Glu298Asp endothelial nitric oxide synthase polymorphism is a risk factor for erectile dysfunction in the Mexican Mestizo population.		163729	23123	2	2004	Therefore, our results suggest that Glu298Asp eNOS polymorphism plays a role as a genetic susceptibility factor for ED.	Case:53 Mexican patients with erectile dysfunction;Control:62 age-matched controls										
141528	N	lupus erythematosus; nephropathy in other diseases	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Douglas, G.  et al. 2004	15338496				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian	North Carolina|South Carolina	CDC GDPinfo	4846	Hs.511603			The Journal of rheumatology. 2004 Sep;31(9):1756-62	Angiotensin-converting enzyme (insertion/deletion) and endothelial nitric oxide synthase polymorphisms in patients with systemic lupus erythematosus		163729	23124	2	2004	 eNOS genetic polymorphisms differed significantly across ethnic groups. There was no significant increased risk of SLE and/or lupus nephritis associated with eNOS or ACE polymorphisms in either the African American or Caucasian groups compared to ethnically matched controls. These studies emphasize the need to control for ethnicity when investigating genetic polymorphisms and disease.	Case:227 systemic lupus erythematosus patients;Control:275 sex matched controls										
141529	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Ahsan, A.  et al. 2004	15498534				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical biochemistry. 2004 Nov;37(11):1037-40	ACE I allele and eNOS G allele crosstalk may have a role in chronic obstructive pulmonary disease		163729	23125	2	2004	 The lower ACE and higher NO levels by virtue of the interchromosomal interaction between the I and G alleles appear to cause less vasoconstriction and increase vasodilatation that may be advantageous in the improvement of the disease.	Case:27 chronic obstructive pulmonary disease patients, all of whom were smokers;Control:66 normal individuals, all of whom were smokers										
141530		cardiological syndrome X	CARDIOVASCULAR	CARD	Microvascular Angina	7	7q36	NOS3	150319079	150342609		Kolasinska-Kloch, W.  et al. 2004	15724677				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Przegl Lek. 2004 ;61(6):743-6	[Relations between endothelial nitric oxide synthase and angiotensin-converting gene polymorphisms and certain biochemical parameters in patients with cardiac syndrome X]		163729	23126	2	2004	We conclude that  disturbances in free fatty acid utilization, estimated by postprandial lipaemic test play important roles in the development of endothelial injury in CSX.	Control:30 healthy volunteers;Case:36 patients with cardiological syndrome X										
141532		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Alvarez, R.  et al. 2001	11485372				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Spain	CDC GDPinfo	4846	Hs.511603			Nitric oxide. 2001 Aug;5(4):343-8	Association between the NOS3 (-786 T/C) and the ACE (I/D) DNA Genotypes and Early Coronary Artery Disease		163729	23128	2	2001	Although based on a limited number of patients, our work suggests that individuals who are NOS3-CC + ACE-DD are at a higher risk for early CAD, probably as a consequence of increased endothelial dysfunction.	Case:170 male smokers with coronary artery disease younger than 50 years;Control:300 healthy male smokers										
141533		asthma; endothelium dependent dilatation	IMMUNE	IMM	Asthma	7	7q36	NOS3	150319079	150342609		Yildiz, P.  et al. 2004	15115168				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The Journal of asthma. 2004 Apr;41(2):159-66	Endothelial dysfunction in patients with asthma:the role of polymorphisms of ACE and endothelial NOS genes.		163729	23129	2	2004	 Patients with asthma have decreased vasodilatatory response to shear stress (EDD). Decreased EDD is correlated with the severity of asthma, but not with the distribution of ACE and eNOS genotypes.	Case:49;Control:49 age- and sex-matched healthy controls (20 male, 29										
141534		atherosclerosis, coronary; hypertension; Fabry's disease	CARDIOVASCULAR	CARD	Fabry Disease|Coronary Disease|Hypertension	7	7q36	NOS3	150319079	150342609		Heltianu, C.  et al. 2005	15784171				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of cellular and molecular medicine. 2005 Jan-Mar;9(1):135-42	Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction.		163729	23130	2	2005		Case:108/109/37 patients with coronary heart disease (n=108), hypertension (n=109), Fabry's disease (n=37);Control:141 healthy subjects										
141536		preeclampsia; abruptio placentae	REPRODUCTION	REP	Pre-Eclampsia|Abruptio Placentae	7	7q36	NOS3	150319079	150342609		Hillermann, R.  et al. 2005	16059745				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		South Africa	CDC GDPinfo	4846	Hs.511603			Journal of human genetics. 2005 ;50(8):415-9	The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia.		163729	23132	2	2005												
141537	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Buchholz, T.  et al. 2004	15212666				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of reproductive immunology (New York, NY :  1989). 2004 May;51(5):323-8	Vasoconstrictively acting AT1R A1166C and NOS3 4/5 polymorphisms in recurrent spontaneous abortions (RSA).		163729	23133	2	2004	 Results do not show any influence of the polymorphisms studied on early pregnancy development. This is in concordance with the concept of an independent regulation of placental perfusion.	Case recurrent spontanous abortion cases;Control:controls										
141539		lead toxicity	METABOLIC	MET	Kidney Diseases	7	7q36	NOS3	150319079	150342609		Weaver, V. M.  et al. 2003	14527840				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDPinfo	4846	Hs.511603			Environmental health perspectives. 2003 Oct;111(13):1613-9	Associations of Renal Function with Polymorphisms in the Delta-Aminolevulinic Acid Dehydratase, Vitamin D Receptor, and Nitric Oxide Synthase Genes in Korean Lead Workers		163729	23135	2	2003	No significant differences were seen in renal outcomes by VDR genotype, nor was consistent effect modification observed. The ALAD findings could be explained by lead-induced hyperfiltration.	Cohort 798 lead workers 										
141540	Y	lead toxicity	METABOLIC	MET	Lead Poisoning	7	7q36	NOS3	150319079	150342609		Theppeang, K.  et al. 2004	15213514				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Korea	CDC GDPinfo	4846	Hs.511603			Journal of occupational and environmental medicine. 2004 Jun;46(6):528-37	Associations of patella lead with polymorphisms in the vitamin D receptor, delta-aminolevulinic acid dehydratase and endothelial nitric oxide synthase genes.		163729	23136	2	2004	There was evidence that the relation between age and patella lead was modified by both the VDR and eNOS genotypes.	Cohort 652 lead workers Korea 										
141541		lead toxicity	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Weaver, V. M.  et al. 2005	16263504				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Environmental health perspectives. 2005 Nov;113(11):1509-15	Associations of uric acid with polymorphisms in the delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase genes in Korean lead workers.		163729	23137	2	2005	We conclude that  genetic polymorphisms may modify uric acid mediation of lead-related adverse renal effects.											
141542	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Uremia|Disease Progression|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Asakimori, Y.  et al. 2003	12666069				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			American journal of kidney diseases. 2003 Apr;41(4):822-32	Effect of polymorphism of the endothelial nitric oxide synthase and apolipoprotein E genes on carotid atherosclerosis in hemodialysis patients.		163729	23138	2	2003	 This cross-sectional study showed a synergistic effect between the intron 4 polymorphism or T(-786)-->C polymorphism of the eNOS gene and the apoE polymorphism with respect to risk for carotid atherosclerosis in nondiabetic hemodialysis patients.	Cohort 163 hemodialysis patients with nondiabetic nephropathy 										
141543		Alzheimer's disease; Lewy body disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Kalman, J.  et al. 2003	14639046				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Hungary	CDC GDPinfo	4846	Hs.511603			Psychiatric genetics. 2003 Dec;13(4):201-4	The nitric oxide synthase-3 codon 298 polymorphism is not associated with late-onset sporadic Alzheimer's dementia and Lewy body disease in a sample from Hungary.		163729	23139	2	2003	The apoE status has been found to be independent from the NOS3 codon 298 polymorphism in the examined cohort. Despite the facts that NOS3 is associated with neuritic sprouting, and aberrant neuronal and glial expression of the same molecule has been found in NEUROLOGICALenerative diseases, it is unlikely that the polymorphism Glu/Asp of the NOS3 gene is involved in the development of LOAD and DLBD.	Case late-onset sporadic Alzheimer's dementia probands (LOAD), diffuse Lewy body dementia cases (DLBD):Hungary;Control:controls										
141544	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Tedde, A.  et al. 2002	11954859				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Italian	Italy	CDC GDPinfo	4846	Hs.511603			Journal of neurology. 2002 Jan;249(1):110-1	Lack of association between NOS3 poly morphism and Italian sporadic and familial Alzheimer's disease.		163729	23140	2	2002	Our data suggest that the NOS3 Glu298Asp polymorphism does not contribute in the Italian population to genetic susceptibility either in sporadic or in familial AD (independently of age of onset), nor mitigate the effect of ApoE epsilon 4 allele on AD risk.	Case:132/88 Italian Alzheimer's disease patients (n=132) and familial Alzheimer's disease patients (n=88);Control:95 Caucasian apparently normal controls										
141545		HIV; hypertension; nephrotic syndrome	INFECTION	INF	Respiratory Tract Infections|Cystic Fibrosis|Chronic Disease	7	7q36	NOS3	150319079	150342609			15125257				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian	Russia	CDC GDPinfo	4846	Hs.511603			Genetika. 2004 Mar;40(3):409-14	[VNTR-polymorphism of the PAH, e-NOS genes and deletion of the CCR5 gene in populations in the northern Caucasus]		163729	23141	2	2004	For each population observed and expected heterozygosities at each locus were calculated. In general, the gene pool of Northern Caucasian populations showed substantial differentiation at	Cohort four indigenous populations of Northern Caucasus, Adygs, Kumyks, Karachais, and Nogais (Kuban and Karanogais) Northern Caucasus 										
141547	N	peripheral vascular disease	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Fricker, R.  et al. 2004	15255799				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			British journal of clinical pharmacology. 2004 Aug;58(2):169-77	Endothelial venodilator response in carriers of genetic polymorphisms involved in NO synthesis and degradation.		163729	23143	2	2004	 This study suggests that the studied polymorphisms of NOSIII and CYBA do not significantly modulate endothelium-dependent venodilation in individuals without vascular risk factors.	Cohort 72 healthy male Caucasians after careful exclusion of cardiovascular risk factors 										
141548	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Disease Susceptibility	7	7q36	NOS3	150319079	150342609		Allanore, Y.  et al. 2004	15530459				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	French	France	CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2004 Dec;350(2-Jan):51-5	Lack of association of eNOS (G894T) and p22phox NADPH oxidase subunit (C242T) polymorphisms with systemic sclerosis in a cohort of French Caucasian patients.		163729	23144	2	2004	 Our results indicate that eNOS (G894T) and p22(phox) (C242T) polymorphisms do not influence susceptibility to and the course of systemic sclerosis.	Control:49 ehtnically matched controls;Case:77 French Caucasian patients with systemic sclerosis										
141549	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Lee, W. H.  et al. 2001	11530961				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDPinfo	4846	Hs.511603			Vascular medicine (London, England). 2001 ;6(2):103-8	Genetic factors associated with endothelial dysfunction affect the early onset of coronary artery disease in Korean males.		163729	23145	2	2001	The ecNOS gene a/b polymorphism and the NADH/NADPH oxidase p22 phox gene C242T polymorphism were found to be significantly associated with the development of CAD in Korean male patients less than 51 years old.	Control:215 healthy male control subjects;Case:305 male coronary artery disease patients:Korea										
141550		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Wang, X. L.  et al. 2003	12704594				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Progress in cardiovascular diseases. 2003 Mar-Apr;45(5):361-82	Genetic influence on cigarette-induced cardiovascular disease.		163729	23146	2	2003	Review article		smoking (tobacco)									
141551		acetylcholine responsiveness	UNKNOWN	UNK		7	7q36	NOS3	150319079	150342609		Grossmann, M.  et al. 2001	11434508				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2001 Jun;11(4):307-16	Heterogeneity in hand veins responses to acetylcholine is not associated with polymorphisms in the G-protein beta3-subunit (C825T) and endothelial nitric oxide synthase (G894T) genes but with serum low density lipoprotein cholesterol.		163729	23147	2	2001	We did not find any association of the variability in ACh response with GNB3 or eNOS allele status. On the other hand, a significant positive correlation between ACh responsiveness and low density lipoprotein-cholesterol status was detected. Two recently discovered gene polymorphisms are not responsible for the profound heterogeneity in venodilator response to ACh. Surprisingly, this variability appears to relate to the lipid status of the subjects. The exact nature of this new finding requires further study.	Cohort 37 healthy subjects 										
141553	N	vasoconstriction, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Naber, C. K.  et al. 2003	12724620				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2003 May;13(5):279-84	Role of the eNOS Glu298Asp variant on the GNB3825T allele dependent determination of alpha-adrenergic coronary constriction.		163729	23149	2	2003	Contrary to the initial analysis, the Glu298Asp variant of the eNOS gene provides no additional information on the genetic basis of alpha(2)-adrenoceptor-induced coronary vasoconstriction, which appears exclusively associated to the 825T allele at GNB3. Analysis of modifying genes appears crucial for the understanding of genetic associations.	Cohort 48 individuals receiving either the alpha(1)-adrenoceptor agonist methoxamine (5 mg i.c.) and/or the alpha(2)-adrenoceptor agonist BHT 933 (5 mg i.c.) 	BHT 933 methoxamine									
141554		vascular response	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Mitchell, A.  et al. 2005	15961981				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical pharmacology and therapeutics. 2005 Jun;77(6):495-502	Insulin-mediated venodilation is impaired in young, healthy carriers of the 825T allele of the G-protein beta3 subunit gene (GNB3).		163729	23150	2	2005	 This study is the first to show the influence of a genetic polymorphism on insulin-mediated venodilation in men in vivo. Further studies are needed to determine whether these results translate to other vascular beds, and possible gender-specific differences remain to be investigated.											
141555		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Djuric, T.  et al. 2005	16302209				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of clinical laboratory analysis. 2005 ;19(6):241-6	Endothelial NOS G894 T and MMP-3 5A/6A gene polymorphisms and hypertension in Serbian population.		163729	23151	2	2005												
141556	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Embryo Loss	7	7q36	NOS3	150319079	150342609		Makino, A.  et al. 2004	15214944				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese		CDC GDPinfo	4846	Hs.511603			American journal of reproductive immunology (New York, NY :  1989). 2004 Jul;52(1):60-6	No association of C677T methylenetetrahydrofolate reductase and an endothelial nitric oxide synthase polymorphism with recurrent pregnancy loss.		163729	23152	2	2004	 We conclude that the NO concentration but not the polymorphism of MTHFR and eNOS gene and hyperhomocysteinemia are associated with recurrent pregnancy loss in Japanese.	Case:40 Japanese patients suffering fetal loss;Control:76:controls										
141557	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Imamura, A.  et al. 2004	15494775				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	CDC GDPinfo	4846	Hs.511603			The Canadian journal of cardiology. 2004 Oct;20(12):1229-34	Endothelial nitric oxide synthase and methylenetetrahydrofolate reductase gene polymorphisms are associated with endothelial dysfunction in young, healthy men.		163729	23153	2	2004	 The data suggest that even in young men, the eNOS Asp298 allele may be involved in endothelial dysfunction before any overt vascular disease has occurred. Furthermore, a combination of the eNOS Asp298 and MTHFR T677 alleles may exaggerate endothelial dysfunction and may contribute to a comparatively earlier development of atherosclerosis.	Cohort 53 young healthy men 										
141559		nitric oxide	METABOLIC	MET		7	7q36	NOS3	150319079	150342609		Grasemann, H.  et al. 2003	12531780				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of respiratory and critical care medicine. 2003 Apr;167(8):1113-6	Effects of sex and of gene variants in constitutive nitric oxide synthases on exhaled nitric oxide.		163729	23155	2	2003	These data suggest that variants in the neuronal nitric oxide synthase gene contribute to the variability of airway nitric oxide concentrations in healthy females.	Cohort 105 healthy non-smoking and smoking subjects 										
141560	N	Alzheimer's disease; dementia	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Singleton, A. B.  et al. 2001	11297817				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Neuroscience letters. 2001 Apr;303(1):33-6	Nitric oxide synthase gene polymorphisms in Alzheimer's disease and dementia with Lewy bodies.		163729	23156	2	2001	We conclude that  NOS gene polymorphisms do not alter disease risk in the majority of late-onset dementia cases.	Control:106 age-matched, non-demented, no history of neuropsychiatric disease, showed age related neuropathology only upon examination:England;Case:158 Alzheimer's disease:England;Case:54 dementia with Lewy bodies:England										
141561	N	retinopathy, diabetic; nephropathy in other diseases	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Rippin, J. D.  et al. 2003	12687343				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDPinfo	4846	Hs.511603			Diabetologia. 2003 Mar;46(3):426-8	Nitric oxide synthase gene polymorphisms and diabetic nephropathy.		163729	23157	2	2003	In our cohort of Caucasian subjects with Type 1 diabetes there is no association between either of the polymorphisms studied and diabetic nephropathy. The previous suggestion from smaller studies that the intron 4 polymorphism in NOS3 could play a role in susceptibility to the disease is not confirmed.	Case patients with Type 1 diabetes and overt nephropathy who had hypertension and diabetic retinopathy;Control Type 1 diabetic subjects who have been on insulin for 50 or more years and have an extremely low risk of nephropathy										
141562	N	kawasaki disease	IMMUNE	IMM	Coronary Disease|Mucocutaneous Lymph Node Syndrome	7	7q36	NOS3	150319079	150342609		Khajoee, V.  et al. 2003	12709136				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Pediatrics international. 2003 Apr;45(2):130-4	Inducible and endothelial constitutive nitric oxide synthase gene polymorphisms in Kawasaki disease.		163729	23158	2	2003	 These results did not support any association of ecNOS and iNOS gene polymorphisms to the development of CAL in KD patients in a Japanese population.	Cohort Japanese Kawasaki disease patients 										
141563		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Gonzalez-Gay, M. A.  et al. 2004	15226517				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Spanish		CDC GDPinfo	4846	Hs.511603			Rheumatology (Oxford, England). 2004 Sep;43(9):1182-5	Inducible but not endothelial nitric oxide synthase polymorphism is associated with susceptibility to rheumatoid arthritis in northwest Spain		163729	23159	2	2004	 Significant differences in the iNOS promoter polymorphism genotype frequency between northwest Spanish RA patients and controls suggest a potential role for this polymorphism in susceptibility to RA.	Case:200 rheumatoid arthritis patients northwest Spain;Control:251 ethnically matched controls										
141564		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Cardiomegaly|Hypertension	7	7q36	NOS3	150319079	150342609			12469628				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Ter Arkh. 2002 ;74(10):30-7	[Clinico-genetic aspects of the hypotensive response and regression of left ventricular hypertrophy in arterial hypertension patients]		163729	25364	2		 Regress of LVH in AH patients depends on dynamics and complex interactions of some hemodynamic, laboratory and genetic parameters.	Cohort 64 patients with arterial hypertension and left ventricular hypertrophy 										
141565		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	7	7q36	NOS3	150319079	150342609		Azurmendi, P.  et al. 2004	15628301				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Medicina. 2004 ;64(2):139-42	[Progression of autosomic dominant polycystic kidney disease. Influence of endothelial NO synthase (ecNOS) and renin angiotensin system gene polymorphisms]		163729	25365	2	2004	AT1 1166CC and ecNOS 298Asp/Asp are associated with earlier A2 and A6 whereas AGT 235TT induce twofold increase in GFRd, suggesting that RAS and ecNOS are involved in ADPKD progression.	Cohort 88 autosomic dominant polycystic kidney disease patients 										
141567		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Hsueh, Y. M.  et al. 2005	16076760				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Taiwan	CDC GDPinfo	4846	Hs.511603			Journal of toxicology and environmental health Part A. 2005 Sep;68(17-18):1471-84	Genetic polymorphisms of oxidative and antioxidant enzymes and arsenic-related hypertension.		163729	25367	2	2005			arsenic									
141568	N	nephropathy	RENAL	REN	Glomerulonephritis|Chronic Disease|Disease Progression	7	7q36	NOS3	150319079	150342609			15532370				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Ter Arkh. 2004 ;76(9):16-20	[Association of the complex of polymorphic markers of ACE genes, aldosteron synthetase and endothelial synthetase of nitric oxide with progression of chronic glomerulonephritis]		163729	25368	2	2004	 No association was detected between polymorphic markers of genes ACE, CYP11B2 and NOS3 and onset of CGN. Carriage of D+C+4a allele combination is an independent factor of risk for fast progression of chronic renal failure.	Case:117 chronic glomerulonephritis patients;Control:80 controls free of renal diseases and arterial:hypertension										
141569		hypertension; nephrotic syndrome	CARDIOVASCULAR	CARD	Glomerulonephritis|Chronic Disease	7	7q36	NOS3	150319079	150342609		Kamyshova, E. S.  et al. 2005	16078594				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Ter Arkh. 2005 ;77(6):16-20	[The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis]		163729	25369	2	2005	 There is association of polymorphic markers I/D of ACE gene, C(-344)T of gene CYP11B2 and 4a/4b of gene NOS3 with clinical features of CGN. Carriers of alleles associated with high activity of PAAC--allele D of gene ACE, allele C of gene CYP11B2 and allele 4a of gene NOS3--had more severe clinical picture at all stages of the disease.											
141570		left ventricular hypertrophy; blood flow; left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Minushkina, L. O.  et al. 2005	15699938				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Kardiologiia. 2005 ;45(1):41-50	[Angiotensin Converting Enzyme, NO-Synthase, and Endothelin-1 Genes and Left Ventricular Hypertrophy in Natives of Yakutia With Hypertensive Disease.]		163729	25370	2	2005	Polymorphic marker G7831A of ACE gene was not associated with severity of hypertrophy of left ventricular myocardium as well as with state of systolic and diastolic left ventricular function. Patients with allele Asn of EDN1 gene in the genotype had significantly lower value of peak A integral of transmitral blood flow. Patients with allele 4a of NOS3 gene had thicker left ventricular walls, greater left ventricular myocardial mass and mass index.	Cohort 70 natives of Yakutia with hypertension (31 men and 39 women) Yakutia 										
141571		erectile dysfunction	OTHER	OTH	Erectile Dysfunction|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609		Eisenhardt, A.  et al. 2003	12825146				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Herz. 2003 Jun;28(4):304-13	Genetic risk factors for erectile dysfunction and genetic determinants of drug response--on the way to improve drug safety?		163729	25371	2	2003	Considering cardiovascular side effects under sildenafil treatment, it would be interesting to determine if genetic factors have an impact on the side effect profile of this drug.	Cohort erectile dysfunction patients 	sildenafil									
141572		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	7	7q36	NOS3	150319079	150342609		Hefler, L. A.  et al. 2002	11756575				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Molecular human reproduction. 2002 Jan;8(1):95-100	Polymorphisms of the angiotensinogen gene, the endothelial nitric oxide synthase gene, and the interleukin-1beta gene promoter in women with idiopathic recurrent miscarriage.		163729	25372	2	2002	Despite promising experimental data, our data fall short of showing any significant association between a variant of the promoter region of IL1B, the M235T polymorphism of Agt, and the Glu298Asp missense variant of Nos3 and the occurrence of IRM.	Case:130 women with a history of idiopathic recurrent:miscarriage;Control:67 healthy control women										
141573		cerebral palsy	OTHER	OTH	Cerebral Palsy|Thrombosis|Hypertension	7	7q36	NOS3	150319079	150342609		Nelson, K. B.  et al. 2005	15718364				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pediatric research. 2005 Apr;57(4):494-9	Genetic polymorphisms and cerebral palsy in very preterm infants.		163729	25373	2	2005	We conclude that  further study of genetic factors that may influence susceptibility to CP in very preterm infants is warranted.	Control:119 control children;Case:96 singleton infants with later-diagnosed cerebral:palsy										
141574	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Szolnoki, Z.  et al. 2005	15595935				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Acta neurologica Scandinavica. 2005 Jan;111(1):29-33	Endothelial nitric oxide synthase gene interactions and the risk of ischaemic stroke.		163729	25374	2	2005	 The eNOS G894T or eNOS 894TT genotypes in combination with the MTHFR 677TT or ACE D/D genotype increases the risk of ischaemic stroke.	Control:295 stoke and neuroimaging alteration-free Caucasian:subjects;Case:407 consecutive patients with acute ischaemic stroke who had never suffered a previous stroke event										
141575	N	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	7	7q36	NOS3	150319079	150342609		Sjostrand, C.  et al. 2002	12421162				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Cephalalgia. 2002 Nov;22(9):758-64	Analysis of nitric oxide synthase genes in cluster headache.		163729	25375	2	2002	We conclude that  it is unlikely that genetic variations within the NOS genes contribute greatly to cluster headache susceptibility.	Control:111 matched controls;Case:91 cluster headace patients										
141576		diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			15856945				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Molekuliarnaia biologiia. 2005 Mar-Apr;39(2):224-9	[Polymorphic markers of the NO synthase genes and genetic predisposition to diabetic polyneuropathy in patients with type 1 diabetes mellitus]		163729	25376	2	2005	Only in the case of (CCTTT)n marker of NOS2 gene we have found a tendency for the association of 14 allele with DPN development. The carriers of this allele have the lower risk of DPN in T1DM.	Cohort 180 type 1 diabetes patients (T1DM) of Russian or Eastern Slavonic origin Moscow, Russia 										
141577	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Basset, = el-EA et al. 2002	11926202				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinical nephrology. 2002 Mar;57(3):192-200	Hypertension after renal transplantation and polymorphism of genes involved in essential hypertension: ACE, AGT, AT1 R and ecNOS.		163729	26473	2	2002	 This study produced mainly negative results except for ecNOS-a allele, which seems to protect against severe hypertension. The explanation remains speculative but probably relates to the known cyclosporine-induced upregulation of ecNOS gene and enzyme activity.	Cohort 294 consecutive recipients receiving a first renal cadaveric allograft and all treated with CsA (the majority with triple therapy). 										
141578		nephropathy in other diseases	RENAL	REN	Glomerulonephritis, Membranous	7	7q36	NOS3	150319079	150342609		Stratta, P.  et al. 2004	14767013				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Nephrology, dialysis, transplantation. 2004 Mar;19(3):587-95	Interaction between gene polymorphisms of nitric oxide synthase and renin-angiotensin system in the progression of membranous glomerulonephritis.		163729	26474	2	2004	 This study is the first to demonstrate a role for an interaction between simultaneous variations of genes encoding for NOS and components of RAS in the progression of MGN. Interactions between various polymorphisms may explain conflicting results obtained in previous studies that examined single gene variations, since the effect of a single locus variation may be influenced by the simultaneous presence of other variant alleles in polygenic diseases such as primary GN. However, the small sample sizes and possible multiple interactions limited the interpretation of the current findings, which may represent true biological interaction or simply statistical interactions or spurious results due to the small sample sizes.	Case:117 patients with serum creatinine (s-Cr) <1.5 mg/dl at renal biopsy and follow-up >/==" BORDER="0"> 5 years (Kaplan-Meier and Cox multivariate analysis);Control:171 organ donors										
141579	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis	7	7q36	NOS3	150319079	150342609		Berdeli, A.  et al. 2005	15563875				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2005 Jan;351(2-Jan):87-94	Association between the eNOS (Glu298Asp) and the RAS genes polymorphisms and premature coronary artery disease in a Turkish population.		163729	26475	2	2005	 This study indicates a synergistic contribution of RAS genes (ACE I/D, AGT T/M, AT1R T/C) and eNOS Glu298Asp polymorphisms to the development of the premature CAD.	Case:115 Turkish patients with premature coronary artery:disease;Control:83:controls										
141580		cerebral white matter lesions	NEUROLOGICAL	NEUR	Brain Injuries|Hypertension|Diabetes Mellitus	7	7q36	NOS3	150319079	150342609		Henskens, L. H.  et al. 2005	16109907				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2005 Sep;36(9):1869-73	Associations of the angiotensin II type 1 receptor A1166C and the endothelial NO synthase G894T gene polymorphisms with silent subcortical white matter lesions in essential hypertension.		163729	26476	2	2005	 We found the AGTR1 A1166C as well as the NOS3 G894T polymorphisms to be associated with silent WMLs in the subcortical area.											
141581		esophageal varices	OTHER	OTH	Esophageal and Gastric Varices|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Coto, E.  et al. 2001	11707686				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of cardiovascular pharmacology. 2001 Dec;38(6):833-9	Variation at the Angiotensin-converting enzyme and endothelial nitric oxide synthase genes is associated with the risk of esophageal varices among patients with alcoholic cirrhosis		163729	26477	2	2001	The genotypes associated with an increased risk for varices have been linked to higher plasma levels of nitric oxide and reduced levels of ACE. These genotypes could have a vasodilatory effect in the systemic and splanchnic circulation, thus favoring the development of portocollaterals.	Case:145 male patients with liver cirrhosis;Control:200 healthy controls										
141582		arterial disease	CARDIOVASCULAR	CARD	Retinal Artery Occlusion|Hypertension, Renovascular|Arteriosclerosis	7	7q36	NOS3	150319079	150342609		Van Onna, M.  et al. 2004	15326089				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Hypertension. 2004 Oct;44(4):448-53	Genetic risk of atherosclerotic renal artery disease: the candidate gene approach in a renalangiography cohort.		163729	26478	2	2004	We hypothesize that the Asp allele of the Glu298Asp polymorphism may predispose to the development of atherosclerotic lesions but that renal artery involvement depends on other factors, also.	Control:200/154 nondiseased normotensive (n=200) and hypertensive (n=154) patients from a family practice;Case:456 consecutive hypertensive patients referred for renal angiography on the suspicion of renovascular:hypertension										
141583		hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			15112434				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Tsitologiia. 2004 ;46(1):69-78	[Impact of angiotensin-converting enzyme, angiotensinogen, endothelial NO synthase, and bradykinin receptor B2 gene polymorphisms on myocardium in patients with hypertension and in athletes]		163729	26479	2	2004	At the same time, the ACE and AND gene polymorphisms displayed no association with the cardiac structure and function.	Cohort 114/94 hypertensive patients (n=114) and athletes (n=94) 										
141584	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Arterial Occlusive Diseases|Thrombosis|Thrombophilia	7	7q36	NOS3	150319079	150342609		Yeh, P. S.  et al. 2004	15351855				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Taiwan	CDC GDPinfo	4846	Hs.511603			Thrombosis and haemostasis. 2004 Sep;92(3):583-9	Prognosis of young ischemic stroke in Taiwan:impact of prothrombotic genetic polymorphisms		163729	26480	2	2004	Our data indicate that the prothrombotic genetic polymorphisms do not have a significant influence on the prognosis in young ischemic stroke due to arterial occlusion or undetermined causes in Taiwan.	Cohort 231 patients younger than 50 years (mean age 44.6 years, range 25 to 49 years) with acute ischemic stroke due to large artery atherosclerosis (n=90), small artery occlusion (n=114) or undetermined cause (n=27) Taiwan 										
141586		cysclosporine toxicity	PHARMACOGENOMIC	PHARM		7	7q36	NOS3	150319079	150342609		Ozdemir, F. N.  et al. 2004	15013322				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Transplantation proceedings. 2004 Jan-Feb;36(1):128-30	The renin-angiotensin system and endothelial nitric oxide synthase gene polymorphisms and cyclosporine toxicity in renal transplant patients.		163729	27143	2	2004	We could not find any relation between cyclosporine toxicity and gene polymorphisms (P >.05), although the mean mg/kg/d dose was significantly high among cyclosporine toxicity group (P =.028, RR = 1.42). In recent studies angiotensin II and nitric oxide have been suggested to be related to cyclosporine toxicity; however, our results failed to reveal an association between cyclosporine toxicity and angiotensin II or nitric oxide-related gene polymorphisms.	Cohort 111 renal transplant patients 										
141587		posttransplantation erythrocytosis	OTHER	OTH	Polycythemia|Postoperative Complications	7	7q36	NOS3	150319079	150342609		Micozkadioglu, H.  et al. 2004	15013333				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Transplantation proceedings. 2004 Jan-Feb;36(1):161-3	Angiotensin-converting enzyme gene polymorphism significantly affects renal posttransplantation erythrocytosis.		163729	27144	2	2004	While previous studies revealed a relation between angiotensin II and PE, our study discovered the contribution of ACE gene polymorphism.	Cohort 96 renal transplant patients 										
141588		kidney transplant	IMMUNE	IMM		7	7q36	NOS3	150319079	150342609		Akcay, A.  et al. 2004	15385810				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Transplantation. 2004 Sep;78(6):892-8	Association of the genetic polymorphisms of the renin-angiotensin system and endothelial nitric oxide synthase with chronic renal transplant dysfunction.		163729	27145	2	2004	 These findings suggest that the DD variant of the ACE gene polymorphism is associated with increased risk of developing CAD.	Cohort 125 patients who underwent renal transplantation during a 5-year period 										
141589		cardiovascular disease risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases	7	7q36	NOS3	150319079	150342609		Hall, W. L.  et al. 2005	16332659				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The American journal of clinical nutrition. 2005 Dec;82(6):1260-8; quiz 1365-6	Soy-isoflavone-enriched foods and inflammatory biomarkers of cardiovascular disease risk in postmenopausal women: interactions with genotypeand equol production		163729	27146	2	2005	 Isoflavones have beneficial effects on CRP concentrations, but not on other inflammatory biomarkers of cardiovascular disease risk in postmenopausal women, and may improve VCAM-1 in an ERbeta gene polymorphic subgroup.		diet									
141590		menopause	REPRODUCTION	REP	Thrombophilia	7	7q36	NOS3	150319079	150342609		Tempfer, C. B.  et al. 2005	15879922				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Menopause (New York, NY). 2005 May-Jun;12(3):325-30	Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women		163729	27147	2	2005	 We identified various genetic and personal history parameters influencing age at natural menopause and the risk of undergoing premenopausal hysterectomy. To the best of our knowledge, we present the largest study to date determining SNPs as contributors to the genetic control of the timing of natural and surgical menopause.	Cohort 728 Caucasian women 										
141591		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Tempfer, C. B.  et al. 2004	15120696				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of the Society for Gynecologic Investigation. 2004 May;11(4):227-31	Polymorphisms of thrombophilic and vasoactive genes and severe preeclampsia: a pilot study.		163729	27148	2	2004	 Our data fail to document an independent significant influence of the investigated polymorphisms on the risk of severe preeclampsia. In an attempt to build a multigenetic model of severe preeclampsia, the combination of F5 Leiden, NOS 3 T768C, NOS 3 Glu298Asp, and ER alpha Pvu II was the most effective combination to predict the presence of severe preeclampsia in this small series of white women.	Control:24 controls from a cohort of consecutive white women;Case:24 patients with severe preeclampsia:Austria										
141592		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Turner, S. T.  et al. 2003	14553962				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American journal of hypertension. 2003 Oct;16(10):834-9	Effects of endothelial nitric oxide synthase, alpha-adducin, and other candidate gene polymorphisms on blood pressure response to hydrochlorothiazide		163729	27149	2	2003	 Although we reject the null hypothesis of no genetic effects on BP response to hydrochlorothiazide, the influence of variation at single sites is likely to be small. More extensive characterization of genetic variation is required for pharmacogenetic approaches to become clinically useful in tailoring antihypertensive drug therapy for individual patients.	Cohort 291/294 unrelated non-Hispanic African American adults (n=291, 150 women and 141 men) and unrelated non-Hispanic white adults (n=294, 126 women and 168 men) who were between 30 and 59.9 years of age and who had essential hypertension. 	hydrochlorothiazide									
141593		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Spiridonova, M. G.  et al. 2001	11507973				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Russia	CDC GDPinfo	4846	Hs.511603			International journal of circumpolar health. 2001 Apr;60(2):222-7	The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD.		163729	27150	2	2001	Both approaches (association analysis and gametic disequilibrium) revealed the same gene combinations contributing to the CAD risk factors. NOS3 and APOA1 markers were in gametic disequilibrium in the patients and both of them were associated with LDL. F13 and AGT were associated with systolic and diastolic blood pressure and two-locus gametic disequilibrium between F13 and AGT polymorphisms observed in the patients.	Control:131 healthy individuals (not otherwise specified in:abstract);Case:94 male patients with coronary artery disease										
141595		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	7	7q36	NOS3	150319079	150342609		Krajinovic, M.  et al. 2005	16013960				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenomics. 2005 Apr;6(3):293-302	Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.		163729	27152	2	2005			radiation									
141596		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Modin, H.  et al. 2001	11525805				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of neuroimmunology. 2001 Sep;119(1):95-100	No linkage or association of the nitric oxide synthase genes to multiple sclerosis.		163729	27153	2	2001	no significant association or evidence was found for linkage in these data sets.	Control:148 controls not otherwise specified in abstract;Case:192 multiple sclerosis patients (96 "benign" and 96:"severe" )										
141597		neuropathy	NEUROLOGICAL	NEUR	Optic Atrophy, Hereditary, Leber	7	7q36	NOS3	150319079	150342609		Ishikawa, K.  et al. 2005	15838728				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Japanese journal of ophthalmology. 2005 Mar-Apr;49(2):121-6	Genetic variants of TP53 and EPHX1 in Leber's hereditary optic neuropathy and their relationship to age at onset.		163729	27576	2	2005	 Nuclear genetic polymorphisms related to oxidative stress or apoptosis may modify the age at onset of LHON.	Cohort 87 unrelated Japanese Leber's hereditary optic neuropathy patients carrying the 11778 mitochondrial mutation 										
141598		cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			11963567				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Genetika. 2002 Mar;38(3):383-92	[Analysis of gene complexes predisposing to coronary atherosclerosis]		163729	27577	2		It was found that specific gene combinations are involved in the CAS development and determine variation in the pathogenetically important quantitative traits.	Case patients predisposed to cardiovascular diseases;Control healthy subjects										
141599		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Shaw, G. M.  et al. 2005	16100725				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		California	CDC GDPinfo	4846	Hs.511603			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		163729	27578	2	2005			smoking (tobacco), maternal									
141600		thrombosis	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Atrial|Heart Septal Defects, Ventricular|Thrombosis|Postoperative Complications	7	7q36	NOS3	150319079	150342609		Ozbek, N.  et al. 2005	15831156				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Cardiology in the young. 2005 Feb;15(1):19-25	Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.		163729	27808	2	2005	The results of our study suggest that, in addition to prothrombotic mutations such as Factor V Leiden, single-nucleotide polymorphisms should be considered in all children with congenital cardiac malformations who develop thrombosis. Malformations of the	Cohort 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair 										
141601	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Genetic Predisposition to Disease|Recurrence	7	7q36	NOS3	150319079	150342609		Volzke, H.  et al. 2004	12899665				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clin Sci (Lond).. 2004 Jan;106(1):35-42	Candidate genetic markers and the risk of restenosis after coronary angioplasty.		163729	27809	2	2004	In conclusion, there was no association between the beta-fibrinogen -455 G/A, GP IIIa PlA1/A2, PAI-1 4G/5G, factor V Leiden 1691 G/A, TNFalpha -238 G/A, TNFalpha -308 G/A, IL-1alpha -889 C/T, the IL-1beta -511 C/T, MTHFR 677 C/T and eNOS 4 b/a gene polymorphisms and the risk of restenosis after PTCA as well as recurrent restenosis after repeated PTCA.	Cohort 123 of 511 who were available for analysis, with percutaneous transluminal coronary angioplasty patients 										
141602		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	7	7q36	NOS3	150319079	150342609		French, J. K.  et al. 2003	12514663				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		163729	28097	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
141603		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Warpeha, K. M.  et al. 2003	12724690				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		163729	28180	2	2003	Review article											
141604		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Cacabelos, R.   2002	12452480				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		163729	28249	2	2002	Review article											
141605		alcohol abuse; smoking behavior	CHEMDEPENDENCY	CHEM	Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Liu, Y.  et al. 2005	15654505				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Journal of human genetics. 2005 ;50(2):62-8	Association of habitual smoking and drinking with single nucleotide polymorphism (SNP) in 40 candidate genes: data from random population-basedJapanese samples		163729	28308	2	2005	The findings of the present study suggest that polymorphism in associated candidate genes plays a role in the habitual use of tobacco and alcohol among Japanese men.	Cohort 339 middle-aged, randomly selected Japanese men 										
141606		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Prince, J. A.  et al. 2001	11436125				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Sweden	CDC GDPinfo	4846	Hs.511603			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		163729	28352	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
141607		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Liljedahl, U.  et al. 2003	12544508				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		163729	28539	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
141608		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	7	7q36	NOS3	150319079	150342609		Navarro-Lopez, F.   2002	11975906				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		163729	28563	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
141609		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Watanabe, I.  et al. 2003	12732844				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	CDC GDPinfo	4846	Hs.511603			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		163729	28629	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
141610		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	7	7q36	NOS3	150319079	150342609		Zee, R. Y.  et al. 2002	12082592				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		163729	28661	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
141611		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive|Neurodegenerative Diseases|Genetic Predisposition to Disease	17	17q21	NSF	42023397	42189995		Pastor, P.  et al. 2004	15293277				Ribosomal protein S7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006178.1		Spain	CDC GDPinfo	4905	Hs.431279			Annals of neurology. 2004 Aug;56(2):249-58	Novel haplotypes in 17q21 are associated with progressive palsy		601633	26491	2	2004	A specific subhaplotype (H1E'(A)) was present in patients but was not observed in the controls. Furthermore, the haplotype, was rarely present in the disease group suggesting plays a protective role. The identification of these specific subhaplotypes that modify risk for PSP/CBD supports the pathogenic allele exists in a subgroup of PSP patients.	Case progressive supranuclear palsy cases from 2 case-control samples;Control controls from 2 case-control samples										
141612	N	depressive disorder, major; bipolar disorder; dysthymic disorder	PSYCH	PSY	Mood Disorders	9	9q22.1	NTRK2	86473285	86828325		Adams, J. H.  et al. 2004	15389758				Neurotrophic tyrosine kinase, receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007097.1			CDC GDPinfo	4915	Hs.494312			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):90-5	Association study of neurotrophic tyrosine kinase receptor type 2 (NTRK2) and childhood-onset mood disorders.		600456	18744	2	2004	Based on these results, using these three polymorphisms, we do not find support for NTRK2 as a susceptibility gene for COMD.	Control controls matched on ethnicity and gender;Case:120 cases with major depressive or dysthymic disorder before age 14 or bipolar I/II before the age of 18										
141613	Y	anorexia nervosa; bulimia	PSYCH	PSY	Genetic Predisposition to Disease|Bulimia|Anorexia Nervosa	9	9q22.1	NTRK2	86473285	86828325		Ribases, M.  et al. 2005	15838534				Neurotrophic tyrosine kinase, receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007097.1			CDC GDPinfo	4915	Hs.494312			Molecular psychiatry. 2005 Sep;10(9):851-60	Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index.		600456	18745	2	2005	Our data support a contribution of NTRK2 to the genetic susceptibility of ED, mainly ANP, and ED-related phenotypic traits, such as Harm avoidance and minimum body mass index	Control:121:controls;Case:164 patients with eating disorder										
141614	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	15	15q25	NTRK3	86220991	86600665		Armengol, L.  et al. 2002	12399943				Neurotrophic tyrosine kinase, receptor, type 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012338.1			CDC GDPinfo	4916	Hs.410969			Molecular psychiatry. 2002 ;7(9):928-30	5' UTR-region SNP in the NTRK3 gene is associated with panic disorder		191316	18746	2	2002	None of the polymorphisms in the coding region was significantly associated with panic disorder.	Case:59 unrelated consecutive oupatients with panic:disorder;Control:86 unrelated individuals from the general population not tested for any mental disorder, matched to the PD sample gy gender and age										
141615		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	15	15q25	NTRK3	86220991	86600665		Iwai, N.  et al. 2004	15167446				Neurotrophic tyrosine kinase, receptor, type 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012338.1	Japanese	Japan	CDC GDPinfo	4916	Hs.410969			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		191316	28449	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
141616	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20q13.33	OPRL1	62181931	62202440		Pritchard, A.  et al. 2004	15276231				Opiate receptor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182647.1		Great Britain	CDC GDPinfo	4987	Hs.2859			Neuroscience letters. 2004 Aug;366(2):126-9	No association between polymorphisms in the lectin-like oxidised low density lipoprotein receptor (ORL1) gene on chromosome 12 and Alzheimer's disease in a UK cohort		602548	13010	2	2004	Therefore, in this present study, we find no evidence for the involvement of these ORL1 polymorphisms in increasing susceptibility to AD.	Case:356 Alzheimer's disease patients:UK;Control:358 matched controls										
141617		acute coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable|Myocardial Infarction|Thrombophilia|Metabolic Syndrome X|Genetic Predisposition to Disease	11	11q	P200				Burzotta, F.  et al. 2004	15377476				p200 cell surface protein				CDC GDPinfo	5035				Haematologica. 2004 Sep;89(9):1134-8	G20210A prothrombin gene variant and clinical outcome in patients with a first acute coronary syndrome.		604141	18789	2	2004	 The present prospective study suggests that heterozygosity for the G20210A prothrombin polymorphism adversely affects prognosis after a first acute coronary syndrome in the subgroup of patients without metabolic risk factors and in those not treated by revascularization procedures.	Cohort 162 patients with a first episode of myocardial infarction or unstable angina (UA) occurring before 65 years of age 										
141619		Pendred syndrome	OTHER	OTH	Hearing Loss, Sensorineural|Goiter	7	7q31	SLC26A4	107088315	107145488		Scott DA et al. 2000	10861298				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			KGB	5172	Hs.571246			Human molecular genetics. 2000 Jul;9(11):1709-15	Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).		605646	4923	1	2000												
141620	Y	Pendred's syndrome	OTHER	OTH	Deafness|Goiter|Syndrome	7	7q31	SLC26A4	107088315	107145488		Kopp P et al. 1999	9920104				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1		Brazil	KGB	5172	Hs.571246			The Journal of clinical endocrinology and metabolism. 1999 Jan;84(1):336-41	Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.		605646	4924	1	1999												
141621		autoimmune thyroid diseases	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Genetic Predisposition to Disease	7	7q31	SLC26A4	107088315	107145488		Kacem HH et al. 2003	12727986				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			KGB	5172	Hs.571246			The Journal of clinical endocrinology and metabolism. 2003 May;88(5):2274-80	PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study.		605646	4925	1	2003												
141623		Graves' disease; Hashimoto's thyroiditis; primary idiopathic myxedema	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Genetic Predisposition to Disease	7	7q31	SLC26A4	107088315	107145488		Kacem, H. H.  et al. 2003	12727986				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			CDC GDPinfo	5172	Hs.571246			The Journal of clinical endocrinology and metabolism. 2003 May;88(5):2274-80	PDS Is a New Susceptibility Gene to Autoimmune Thyroid Diseases: Association and Linkage Study		605646	19490	2	2003	This work suggests that the PDS gene should be considered a new susceptibility gene to AITDs with varying contributions in each pathology.	Control:154 normal controls;Case:233 unrelated thyroid disease patients										
141624	Y	thyroid function	METABOLIC	MET	Hearing Loss, Sensorineural|Goiter	7	7q31	SLC26A4	107088315	107145488		Bogazzi, F.  et al. 2004	15279074				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			CDC GDPinfo	5172	Hs.571246			Journal of endocrinological investigation. 2004 May;27(5):430-5	Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct		605646	19491	2	2004	The results of the present study lend support to the concept that all patients with mutated SLC26A4 gene have abnormalities of thyroid function tests.	Cohort 57 consecutive patients with sensorineural deafness 										
141625	Y	hearing loss/deafness	OTHER	OTH	Hearing Loss	7	7q31	SLC26A4	107088315	107145488		Park, H. J.  et al. 2005	15679828				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1	Korean	Korea	CDC GDPinfo	5172	Hs.571246			Clinical genetics. 2005 Feb;67(2):160-5	Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans		605646	19492	2	2005	The high proportion of Korean probands with two SLC26A4 mutations may reflect a reduced frequency of other genetic or environmental factors causing EVA in comparison to western populations.	Cohort 26 Korean probands with enlargement of the vestibular aqueduct 										
141626		deafness, nonsyndromic	OTHER	OTH	Deafness|Genetic Predisposition to Disease	7	7q31	SLC26A4	107088315	107145488		Hutchin, T.  et al. 2005	16283880				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			CDC GDPinfo	5172	Hs.571246			Clinical genetics. 2005 Dec;68(6):506-12	Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.		605646	23439	2	2005												
141627		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	16	16p13.3	PGP				de Leon, J.  et al. 2005	16160620				phosphoglycolate phosphatase				CDC GDPinfo	5240				Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		172280	27817	2	2005												
141628	Y	liver glycogenosis caused by Phk deficiency	OTHER	OTH	Liver Diseases|Glycogen Storage Disease|Hepatomegaly|	16	16q12-q13	PHKB	46052738	46291755		Burwinkel B et al. 1997	9402963				Phosphorylase kinase, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000293.1			KGB	5257	Hs.78060			Human genetics. 1997 Dec;101(2):170-4	Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).		172490	7519	1	1997												
141629	Y	polycystic kidney disease 1	RENAL	REN	Intracranial Aneurysm|Polycystic Kidney, Autosomal Dominant	16	16p13.3	PKD1	2078711	2125900		Rossetti S et al. 2003	12842373				Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1			KGB	5310	Hs.75813			Lancet. 2003 Jun;361(9376):2196-201	Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.		601313	7520	1	2003												
141630	Y	Caroli's disease	OTHER	OTH	Caroli Disease|Polycystic Kidney, Autosomal Dominant	16	16p13.3	PKD1	2078711	2125900		Torra R et al. 1997	9211343				Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1			KGB	5310	Hs.75813			Kidney international. 1997 Jul;52(1):33-8	Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.		601313	7521	1	1997												
141631	Y	renal disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic	16	16p13.3	PKD1	2078711	2125900		Rossetti, S.  et al. 2002	11961010				Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1			CDC GDPinfo	5310	Hs.75813			Journal of the American Society of Nephrology. 2002 May;13(5):1230-7	The Position of the Polycystic Kidney Disease 1 (PKD1) Gene Mutation Correlates with the Severity of Renal Disease		601313	18916	2	2002	This study has shown that the position of the PKD1 mutation is significantly associated with earlier ESRD and questions whether PKD1 mutations simply inactivate all products of the gene.	Cohort 324 polycystic kidney disease patients from 80 families 										
141632	Y	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant	16	16p13.3	PKD1	2078711	2125900		Eo, H. S.  et al. 2002	12220456				Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1	Korean	Korea	CDC GDPinfo	5310	Hs.75813			Clinical genetics. 2002 Aug;62(2):169-74	Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.		601313	18917	2	2002	Our findings indicate that many different PKD1 mutations are likely to be responsible for ADPKD in the Korean population, as in the Western population.	Control:controls;Case:51 unrelated Korean autosomal dominant polycystic kidney disease patients:Korea										
141634	Y	late-onset Alzheimer's disease	OTHER	OTH	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Finckh U 2003	12898287				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			KGB	5328	Hs.77274			Neurogenetics. 2003 Aug;4(4):213-7	Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2.		191840	7523	1	2003	PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection.	Control:291:controls;Case:347 patients with late-onset Alzheimer's disease										
141635		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24	PLAU	75340895	75347261		Przybylowska, K.  et al. 2001	11876553				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Journal of experimental & clinical cancer research. 2001 Dec;20(4):569-72	A C/T polymorphism in the urokinase-type plasminogen activator gene in colorectal cancer.		191840	13150	2	2001	A distinct preference of heterozygotes (70% - patients, 65% - controls) was observed in both patients and controls. Additionally, there were no differences in the frequencies of the C and T alleles in both groups. The C/T polymorphism of the uPA gene may not be linked with colorectal cancer.	Control sex and age matched healthy individuals;Case:40 paitnets with colorectal cancer										
141636	Y	urolithiasis	METABOLIC	MET	Urinary Calculi|Recurrence	10	10q24	PLAU	75340895	75347261		Tsai, F. J.  et al. 2002	11880102				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Urology. 2002 Mar;59(3):458-61	Urokinase gene 3'-UTR T/C polymorphism is associated with urolithiasis.		191840	13151	2	2002	 The results of our study demonstrate that the urokinase gene 3'-UTR T allele is associated with calcium stone disease. Individuals possessing the T allele have a higher incidence of calcium oxalate stone disease. The results of this study provide genetic evidence that the urokinase gene may play a role in stone formation.	Control:105 controls not otherwise specified;Case:153 patients with recurrent calcium stones										
141637	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q24	PLAU	75340895	75347261		Przybylowska, K.  et al. 2002	12430175				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Cancer letters. 2002 Jul;181(1):23-30	Antigen levels of the urokinase-type plasminogen activator and its gene polymorphisms in colorectal cancer		191840	13152	2	2002	As uPA can be involved in cancer invasion and metastasis, C/C genotype in exon 6 of uPA gene can be further considered as being related to colorectal cancer progression.	Cohort 52 subjects with colorectal cancer 										
141639	Y	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Chou, H. T.  et al. 2004	15262029				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Chinese	Taiwan	CDC GDPinfo	5328	Hs.77274			International journal of cardiology. 2004 Aug;96(2):165-70	Association between urokinase-plasminogen activator gene T4065C polymorphism and risk of mitral valve prolapse.		191840	13154	2	2004	 This study shows that patients with MVP have a higher frequency of PLAU T4065C TC genotype and T allele that supports a role of the PLAU T4065C polymorphism in determining the risk of MVP among the Chinese population in Taiwan.	Case:100 Chinese patients with mitral valve prolapse:Taiwan;Control:106 age- and sex-mateched normal control subjects										
141640	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Tsai, M. H.  et al. 2004	15356878				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Journal of clinical laboratory analysis. 2004 ;18(5):276-9	Urokinase gene 3'-UTR T/C polymorphism is associated with oral cancer		191840	13155	2	2004	Therefore, the urokinase gene 3'-UTR "T" allele is associated with oral cancer and may play a role in oral cancer formation. However, we did not find the relationship between tumor progression and this polymorphism.	Control:105:controls;Case:130 oral cancer patients										
141641	N	Alzheimer's disease; Abeta load; Abeta42 concentration	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Papassotiropoulos, A.  et al. 2004	15558716				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2		Greece|Switzerland	CDC GDPinfo	5328	Hs.77274			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):21-3	No association of a non-synonymous PLAU polymorphism with Alzheimer's disease and disease-related traits.		191840	13156	2	2004	Our findings do not support a major role of PLAU polymorphisms as susceptibility factors for AD and suggest that large-scale association studies which combine genetic information from populations with similar genetic background might prevent the generation of spurious associations. Although PLAU may be pathophysiologially related to AD, the contribution of common genetic variants of this gene to the risk for developing AD is likely to be low.	Case Alzheimer's disease cases and subjects with Alzheimer's disease-related traits from two independent series from Switzerland and Greece Switzerland and Greece;Control controls from the two series										
141642	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Ertekin-Taner, N.  et al. 2004	15615772				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Human molecular genetics. 2005 Feb;14(3):447-60	Elevated Amyloid {beta} Protein (A{beta}42) and Late Onset Alzheimer's Disease are Associated with Single Nucleotide Polymorphisms in the Urokinase-Type Plasminogen Activator Gene		191840	13157	2	2004	These results provide strong evidence that PLAU or a nearby gene is involved in the development of LOAD. PLAU_1 is a plausible pathogenic mutation that could act by increasing Ass42, but additional biological experiments are required to show this definitively.	Control controls from 6 case-control studies;Case Alzheimer's disesae cases from 6 case-control:studies										
141643		insulin; diabetes, type 1	METABOLIC	MET		10	10q24	PLAU	75340895	75347261		Majsterek, I.  et al. 2005	15750768				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Clinical and experimental medicine. 2005 Mar;4(4):202-6	Distribution of C-->T and T-->C polymorphisms of the urokinase-type plasminogen activator gene in children with type 1 diabetes mellitus and insulin resistance.		191840	13158	2	2005	In conclusion, our results indicate that the higher percentage of T/T homozygotes in patients might be associated with T1DM coexisting with insulin resistance.	Control:120 non-diabetic control subjects;Case:89 children with type 1 diabetes and insulin:resistance										
141644	N	bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia	10	10q24	PLAU	75340895	75347261		Lin, H. C.  et al. 2004	15868845				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Taiwanese		CDC GDPinfo	5328	Hs.77274			Acta paediatrica Taiwanica. 2004 Nov-Dec;45(6):315-9	No association of urokinase gene 3'-UTR polymorphism with bronchopulmonary dysplasia for ventilated preterm infants		191840	13159	2	2004	We concluded that urokinase gene 3'-UTR C/T polymorphism is not a suitable marker for predicting susceptibility and severity to BPD for preterm infants of Taiwanese.	Cohort 204 ventilated preterm infants whose gestational age was below 30 weeks Taiwan 										
141646	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Myers, A. J.  et al. 2004	14681909				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jan;124(1):29-37	Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD.		191840	18945	2	2004	No association was observed by any method making it unlikely that variation in PLAU explains our linkage data.	Case Alzheimer's disease cases;Control:controls										
141648	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317	0.005	Lacquemant C 2000	11119019	Val162 allele			peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		India|Mauritius	KGB	5465	Hs.103110			Diabetes & metabolism. 2000 Nov;26(5):393-401	Mutation screening of the PPARalpha gene in type 2 diabetes associated with coronary heart disease		170998	5063	1	2000	it is likely that PPARalpha gene does not have a major role in diabetes and CHD in our populations, although we can not exclude a minor contribution of the PPARalpha gene to the risk of CHD associated with Type 2 diabetes through a modulation of atherogenic plasma lipids.	Cohort 74 unrelated Type 2 diabetic patients with history of coronary heart disease (CHD) (18 Caucasian and 56 Indian subjects)										
141649	Y	Plasma Lipid Levels	METABOLIC	MET	Cardiovascular Diseases	22	22q12-q13.1	PPARA	44925162	45018317		Tai ES 2002	12006394	L162V			peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			TJB	5465	Hs.103110			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):805-10	Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham OffspringStudy.		170998	5064	1	2002	This suggests that alterations in triglyceride-rich lipoprotein metabolism may be involved in the generation of the increase in LDL cholesterol observed with the L162V PPARA polymorphism.	Cohort 2373 participants (1128 men and 1244 women) in the Framingham Offspring Study										
141650	Y	serum lipid levels	METABOLIC	MET		22	22q12-q13.1	PPARA	44925162	45018317		Yamakawa-Kobayashi K et al. 2002	11897821	Val227Ala		coding sequence	peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Japanese		KGB	5465	Hs.103110			Journal of medical genetics. 2002 Mar;39(3):189-91	A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.		170998	5065	1	2002												
141651	Y	Type II diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Flavell DM et al. 2000	10855543				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			KGB	5465	Hs.103110			Diabetologia. 2000 May;43(5):673-80	Variation in the PPARalpha gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects.		170998	5066	1	2000												
141653	Y	lower body mass index	OTHER	OTH	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperlipidemias|Obesity|Obesity, Morbid	22	22q12-q13.1	PPARA	44925162	45018317		Evans D et al. 2001	11409711				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			KGB	5465	Hs.103110			Journal of molecular medicine (Berlin, Germany). 2001 May;79(4):198-204	A polymorphism L162V in the peroxisome proliferator-activated receptor alpha (PPARalpha) gene is associated with lower body mass index in patients with non-insulin-dependent diabetes mellitus.		170998	5068	1	2001	There were no significant differences in the allele frequency between patients with morbid obesity, hyperlipidaemia, type 2 DM and healthy controls, suggesting that it does not play a major role in the development of these conditions. The polymorphism was associated with a lower body mass index (BMI) in two independently recruited groups of patients with type 2 DM.	Case:154 patients attending a type 2 DM clinic;Case:188 patients attending a lipid clinic;Control:199 healthy blood donors;Case:370 morbidly obese patients who underwent gastric banding surgery										
141654	Y	cardiac growth	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Disease Progression	22	22q12-q13.1	PPARA	44925162	45018317	0.009	Jamshidi Y, Montgomery HE, Hense HW, Myerson SG, T	11864924	Intron 7GC		other	peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	caucasian army recruits and MONICA Augsburg		Colin Palmer	5465	Hs.103110	lvh		Circulation. 2002 Feb;105(8):950-5	Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension.		170998	5069	1	2002	 We demonstrate that variation in the PPARalpha gene influences human left ventricular growth in response to exercise and hypertension, indicating that maladaptive cardiac substrate utilization can play a causative role in the pathogenesis of LVH.	Cohort 114 young male British Army recruits undergoing a 10-week physical training program Cohort 1148 men and women participating in the echocardiographic substudy of the Third Monitoring Trends and Determinants in Cardiovascular Disease (MONICA) Augsbur										
141655	Y	diabetes, type 2; hyperlipidemia; obesity	OTHER	OTH	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperlipidemias|Obesity|Obesity, Morbid	22	22q12-q13.1	PPARA	44925162	45018317		Evans, D.  et al. 2001	11409711	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Journal of molecular medicine (Berlin, Germany). 2001 May;79(4):198-204	A polymorphism, L162V, in the peroxisome proliferator-activated receptor alpha (PPARalpha) gene is associated with lower body mass index in patients with non-insulin-dependent diabetes mellitus.		170998	13278	2	2001	There were no significant differences in the allele frequency between patients with morbid obesity, hyperlipidaemia, type 2 DM and healthy controls, suggesting that it does not play a major role in the development of these conditions. The polymorphism was associated with a lower body mass index (BMI) in two independently recruited groups of patients with type 2 DM.	Case:154 patients attending a type 2 DM clinic;Case:188 patients attending a lipid clinic;Control:199 healthy blood donors;Case:370 morbidly obese patients who underwent gastric banding surgery										
141656	Y	cholesterol, LDL; cholesterol, total; apolipoproteins	METABOLIC	MET	Cardiovascular Diseases	22	22q12-q13.1	PPARA	44925162	45018317		Tai, E. S.  et al. 2002	12006394	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):805-10	Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham OffspringStudy.		170998	13279	2	2002	This suggests that alterations in triglyceride-rich lipoprotein metabolism may be involved in the generation of the increase in LDL cholesterol observed with the L162V PPARA polymorphism.	Cohort 2373 participants (1128 men and 1244 women) in the Framingham Offspring Study 										
141657	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Nielsen, E. M.  et al. 2003	12835617	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		Denmark	CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2003 Jul;13(7):417-23	Evidence for an association between the Leu162Val polymorphism of the PPARalpha gene and decreased fasting serum triglyceride levels in glucose tolerant subjects.		170998	13280	2	2003	In conclusion, the Leu162Val polymorphism of PPARalpha is associated with a decreased level of fasting serum triglyceride in glucose tolerant white subjects.	Control:524 Caucasian glucose tolerant subjects;Case:738 Caucasian type 2 diabetic patients										
141658	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Brune, S.  et al. 2003	12938026				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			J Neural Transm. 2003 Sep;110(9):1041-50	Polymorphism in the peroxisome proliferator-activated receptor alpha gene influences the risk for Alzheimer's disease		170998	13281	2	2003	These results suggest, that PPAR-alpha polymorphism may be a risk factor for AD.	Case Alzheimer's disease patients;Control healthy subjects										
141659		insulin; glucose	METABOLIC	MET	Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Bosse, Y.  et al. 2003	14677049	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Journal of human genetics. 2003 ;48(12):614-21	Combined effects of PPARgamma2 P12A and PPARalpha L162V polymorphisms on glucose and insulin homeostasis: the Qu????bec Family Study.		170998	13282	2	2003	These results provide evidence of a gene-gene interaction in the regulation of plasma glucose-insulin homeostasis, and emphasize that these interactions need to be taken into account when dissecting the genetic etiology of complex disorders.	Cohort 663 nondiabetic adults participating in the Quebec Family Study 		PPARgamma2	P12A	PPARalpha	L162V			Y		plasma glucose-insulin homeostasis
141660	Y	atherosclerosis, coronary; diabetes, type 2; lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis|Diabetes Mellitus, Type 2|Hyperlipidemias	22	22q12-q13.1	PPARA	44925162	45018317		Gouni-Berthold, I.  et al. 2004	15199365				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			American heart journal. 2004 Jun;147(6):1117-24	Association between the PPARalpha L162V polymorphism, plasma lipoprotein levels, and atherosclerotic disease in patients with diabetes mellitus type 2 and in nondiabetic controls.		170998	13283	2	2004	 The data suggest that the PPARalpha polymorphism L162V might protect against the development of atherosclerosis or CHD in patients with DM-2. The absence of an association between the polymorphism and plasma lipoprotein concentrations may suggest that these protective effects are exerted directly on the arterial wall.	Case:404 ubjects with type 2 diabetes;Control:438 age and sex-matched non-diabetic controls										
141661	Y	metabolic syndrome	METABOLIC	MET	Hypertriglyceridemia|Obesity|Syndrome	22	22q12-q13.1	PPARA	44925162	45018317		Robitaille, J.  et al. 2004	15309680				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		Quebec	CDC GDPinfo	5465	Hs.103110			Journal of human genetics. 2004 ;49(9):482-9	Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome.		170998	13284	2	2004	In conclusion, the PPARalpha-L162V polymorphism alone or in interaction with dietary fat intake is associated with components of the metabolic syndrome.	Cohort 632 men 										
141662	Y	cholesterol; cholesterol, LDL; lipoproteins; fatty acid	METABOLIC	MET		22	22q12-q13.1	PPARA	44925162	45018317		Paradis, A. M.  et al. 2005	15699244	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			The American journal of clinical nutrition. 2005 Feb;81(2):523-30	The peroxisome proliferator-activated receptor alpha Leu162Val polymorphism influences the metabolic response to a dietary intervention altering fatty acid proportions in healthy men.		170998	13285	2	2005	 The PPARalpha Leu162Val polymorphism may contribute to interindividual variability in plasma lipoprotein and lipid response after modification of the dietary P:S ratio.	Cohort 20 individuals (10carriers of the V162 allele and 10 L162 homozygotes) matched according to age and body mass index 	diet									
141663		triglycerides; lipoproteins	METABOLIC	MET	Diabetes Mellitus	22	22q12-q13.1	PPARA	44925162	45018317		Tai, E. S.  et al. 2005	15735069	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			The Journal of nutrition. 2005 Mar;135(3):397-403	Polyunsaturated fatty acids interact with the PPARA-L162V polymorphism to affect plasma triglyceride and apolipoprotein C-III concentrations in the Framingham Heart Study.		170998	13286	2	2005	Our data show that the effect of the L162V polymorphism on plasma TG and apoC-III concentrations depends on the dietary PUFA, with a high intake triggering lower TG in carriers of the 162V allele.	Cohort 1003/1103 men (n=1003) and women (n=1103) participating in the Framingham cohort and consuming their habitual diets 	diet									
141665		atherosclerosis, coronary	CARDIOVASCULAR	CARD		22	22q12-q13.1	PPARA	44925162	45018317		Skoczynska, A.  et al. 2005	16275545				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			European journal of internal medicine. 2005 Nov;16(7):501-6	The dependence of serum interleukin-6 level on PPAR-alpha polymorphism in men with coronary atherosclerosis.		170998	13288	2	2005	 L162V polymorphism in the gene for PPAR-alpha seems to be associated with atherosclerosis through a mechanism including regulation of the IL-6 level.											
141666	Y	cholesterol; triglycerides	METABOLIC	MET		22	22q12-q13.1	PPARA	44925162	45018317		Chan, E.  et al. 2005	16288935				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Chinese		CDC GDPinfo	5465	Hs.103110			Atherosclerosis. 2005	The V227A polymorphism at the PPARA locus is associated with serum lipid concentrations and modulates the association between dietary polyunsaturated fatty acid intake and serum high density lipoprotein concentrations in Chinese women.		170998	13289	2	2005			diet									
141668		cholesterol, HDL; triglycerides; diabetes, type 2; cholesterol, LDL	METABOLIC	MET	Atherosclerosis|Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Gouni-Berthold, I.  et al. 2005	16285997				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Atherosclerosis. 2005 Dec;183(2):336-41	The peroxisome proliferator-activated receptor delta +294T/C polymorphism in relation to lipoprotein metabolism in patients with diabetes mellitus type 2 and in non-diabetic controls.		170998	13293	2	2005	 The data suggest that the PPARdelta +294T/C polymorphism has no influence on plasma lipoprotein concentrations, body mass index or atherosclerotic disease either in healthy subjects or in patients with DM-2, both in males and females.											
141669	N	coronary heart disease; diabetes, type 2	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Lacquemant, C.  et al. 2000	11119019				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		India|Mauritius	CDC GDPinfo	5465	Hs.103110			Diabetes & metabolism. 2000 Nov;26(5):393-401	Mutation screening of the PPARalpha gene in type 2 diabetes associated with coronary heart disease		170998	19021	2	2000	it is likely that PPARalpha gene does not have a major role in diabetes and CHD in our populations, although we can not exclude a minor contribution of the PPARalpha gene to the risk of CHD associated with Type 2 diabetes through a modulation of atherogenic plasma lipids.	Cohort 74 unrelated Type 2 diabetic patients with history of coronary heart disease (CHD) (18 Caucasian and 56 Indian subjects) 										
141670	N	cholesterol; triacylglycerol	METABOLIC	MET	Hyperlipidemias	22	22q12-q13.1	PPARA	44925162	45018317		Puckey, L. H.  et al. 2001	11668221				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2001 Oct;11(7):619-24	Variation at position 162 of peroxisome proliferator-activated receptor alpha does not influence the effect of fibrates on cholesterol or triacylglycerol concentrations in hyperlipidaemic subjects.		170998	19022	2	2001	Thus, there is no evidence that variation in the PPARalpha gene at position 162 is responsible for the differential response to fibrates in non-diabetic hyperlipidaemic subjects.	Cohort 96 lipid clinic subjects who showed a wide range of response to fibrates 										
141671	Y	hypertension; exercise	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Disease Progression	22	22q12-q13.1	PPARA	44925162	45018317		Jamshidi, Y.  et al. 2002	11864924				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Circulation. 2002 Feb;105(8):950-5	Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension.		170998	19023	2	2002	 We demonstrate that variation in the PPARalpha gene influences human left ventricular growth in response to exercise and hypertension, indicating that maladaptive cardiac substrate utilization can play a causative role in the pathogenesis of LVH.	Cohort 114 young male British Army recruits undergoing a 10-week physical training program Cohort 1148 men and women participating in the echocardiographic substudy of the Third Monitoring Trends and Determinants in Cardiovascular Disease (MONICA) Augsburg study 										
141673	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	22	22q12-q13.1	PPARA	44925162	45018317		Eurlings, P. M.  et al. 2002	12468272				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Molecular genetics and metabolism. 2002 Dec;77(4):274-81	Identification of the PPARA locus on chromosome 22q13.3 as a modifier gene in familial combined hyperlipidemia.		170998	19027	2	2002	These results clearly demonstrate the genetically complex nature of FCHL and identify the PPARA gene as a modifier of the FCHL phenotype.	Case familial combined hyperlipidemia subjects;Control:spouses										
141674	Y	obesity	METABOLIC	MET	Body Weight	22	22q12-q13.1	PPARA	44925162	45018317		Bosse, Y.  et al. 2003	12855749				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Obesity research. 2003 Jul;11(7):809-16	The peroxisome proliferator-activated receptor alpha L162V mutation is associated with reduced adiposity.		170998	19028	2	2003	The PPARalpha V162 allele is associated with reduced adiposity and has a substantial population-attributable risk.	Cohort healthy adults who participated in the Quebec Family Study 										
141675	N	psoriasis	IMMUNE	IMM	Psoriasis	22	22q12-q13.1	PPARA	44925162	45018317		Mossner, R.  et al. 2004	15083308				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Archives of dermatological research. 2004 Jun;296(1):5-Jan	Variations in the genes encoding the peroxisome proliferator-activated receptors alpha and gamma in psoriasis		170998	19030	2	2004	No association between any of the investigated PPAR variants and psoriasis was found. Our findings argue against a significant contribution of the investigated PPAR variations to the genetic basis of psoriasis.	Case:192 patients with chronic plaque-type psoriasis;Control:330 healthy controls										
141676	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Oberkofler, H.  et al. 2004	15111510				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Diabetes. 2004 May;53(5):1385-93	Complex haplotypes of the PGC-1alpha gene are associated with carbohydrate metabolism and type 2 diabetes.		170998	19031	2	2004	Thus, the PGC-1alpha gene locus influences carbohydrate metabolism and contributes to type 2 diabetes in the population studied.	Control:controls;Case patients with type 2 diabetes										
141677	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Progression	22	22q12-q13.1	PPARA	44925162	45018317		Flavell, D. M.  et al. 2005	15677519				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Diabetes. 2005 Feb;54(2):582-6	Peroxisome Proliferator-Activated Receptor {alpha} Gene Variation Influences Age of Onset and Progression of Type 2 Diabetes		170998	19033	2	2005	These data indicate that PPARalpha gene variation influences the onset and progression of type 2 diabetes.	Cohort 912 Caucasian type 2 diabetic subjects 										
141678		myocardial infarct	CARDIOVASCULAR	CARD		22	22q12-q13.1	PPARA	44925162	45018317			16309557				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Nuclear receptor [electronic resource]. 2005 Nov;3:4	Association of common variation in the PPARA gene with incident myocardial infarction in individuals with type 2 diabetes: A Go-DARTS study		170998	19037	2	2005												
141680		triglycerides; atherosclerosis, coronary; lipoprotein	METABOLIC	MET	Coronary Artery Disease	22	22q12-q13.1	PPARA	44925162	45018317		Chen, S.  et al. 2004	15128052				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2004 Jan;14(1):61-71	Effects of PPARalpha, gamma and delta haplotypes on plasma levels of lipids, severity and progression of coronary atherosclerosis and response to statin therapy in the lipoprotein coronary atherosclerosis study.		170998	19040	2	2004	No significant associations between PPARA haplotypes and the phenotypes or significant interactions between PPAR haplotypes and the occurrence of new clinical events were detected. PPARD and PPARG haplotypes are independent determinants of plasma levels of lipids, severity of coronary atherosclerosis and its response to therapy.	Cohort 372 Lipoprotein and Coronary Atherosclerosis Study subjects 	fluvastatin									
141681		hypertension; glucose tolerance; insulin; hematology indices	CARDIOVASCULAR	CARD	Hypertension|Glucose Metabolism Disorders	22	22q12-q13.1	PPARA	44925162	45018317			15759454				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Ter Arkh. 2005 ;77(1):46-51	[Clinicogenetic aspects of carbohydrate metabolism disorders and efficacy of their correction with moxonidine and metformine in patients with arterial hypertension]		170998	23262	2	2005	 Genetic factors participate in development of metabolic disturbances in hypertensive patients, obesity and CD and determine treatment efficacy in each individual patient.	Cohort 83 patients (31 male and 52 female patients aged 40-75 years) with untreated arterial hypertension stage I, obesity and CD (by glucose tolerance test) 	metformin moxonidin									
141682		obesity	METABOLIC	MET	Obesity	22	22q12-q13.1	PPARA	44925162	45018317		Nieters, A.  et al. 2002	12395215				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		170998	23263	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
141683		obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	22	22q12-q13.1	PPARA	44925162	45018317		Evans, D.  et al. 2001	11466580				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		170998	25442	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
141684		triglycerides; insulin; lipoproteins; apoB; apoC-III	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Garenc, C.  et al. 2004	15549499				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Canadian	Quebec	CDC GDPinfo	5465	Hs.103110			Journal of human genetics. 2004 ;49(12):691-700	Population prevalence of APOE, APOC3 and PPAR-alpha mutations associated to hypertriglyceridemia in French Canadians.		170998	25443	2	2004	The co-transmitted allele distribution between the two-marker genotypes APOE/APOC3(C3238G) and APOC3(C-482T)/PPARalpha(L162V) presented a weak deviation from the assumption of genetic independence. Also, we observed a non-independent distribution of the T-482/G3238 allele combinations within the APOC3 gene, suggesting strong linkage disequilibrium between the C-482T and C3238G polymorphisms. Moreover, comparisons of allele frequencies observed in the population of Quebec City to those obtained in other Caucasian populations suggested that the population of Quebec City may be at a lower risk of developing HTG due to APOE, APOC3 and PPARalpha genetic variants. However, the strong linkage disequilibrium and the two-marker genotype distributions observed in the APOC3 gene suggest that these two variants may functionally interact in the Quebec City population.	Cohort 938 anonymous unlinked newborns Quebec City 										
141685		fibrinogen; triglyceride	METABOLIC	MET	Arterial Occlusive Diseases|Peripheral Vascular Diseases|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Jamshidi, Y.  et al. 2002	12048138				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Atherosclerosis. 2002 Jul;163(1):183-92	Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial.		170998	25444	2	2002	Thus while these genotypes are a minor determinant of baseline triglyceride and fibrinogen levels, there is little evidence from this study that the magnitude of response to bezafibrate treatment in men with peripheral vascular disease is determined by variation at these loci.	Cohort 158 diabetics Cohort 654 non-diabetics 	bezafibrate smoking (tobacco)									
141686		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis	22	22q12-q13.1	PPARA	44925162	45018317		Zak, I.  et al. 2005	16043164				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):110-8	Contemporaneous carrier-state of two or three "proatherosclerotic" variants of APOE, ICAM1, PPARA and PAI-1 genes differentiate CAD patients from healthy individuals.		170998	25445	2	2005	 In conclusion, contemporaneous carrier-state of two or three polymorphic variants within analyzed genes is associated with CAD.											
141687		insulin; blood pressure, arterial	METABOLIC	MET	Hypertension|Obesity	22	22q12-q13.1	PPARA	44925162	45018317		Kobalava, Z. D.  et al. 2005	15940190				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Kardiologiia. 2005 ;45(4):37-43	[Clinical Genetic Determinants of Carbohydrate Metabolism Disturbances in Patients With Hypertension and Excessive Weight.]		170998	25446	2	2005	No association was found between systolic BP and alleles and genotypes of polymorphic markers of PPARG2 and PPARA genes.											
141688		cholesterol, HDL; triglycerides; cholesterol, total	METABOLIC	MET	Hypertriglyceridemia	22	22q12-q13.1	PPARA	44925162	45018317		Brisson, D.  et al. 2002	12042669				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2002 Jun;12(4):313-20	Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients.		170998	25447	2	2002	This study suggests that frequent genetic variations in genes encoding proteins involved in TG-rich lipoprotein metabolism could modulate the response to fenofibrate treatment, as defined in clinical guidelines.	Cohort 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months 	fenofibrate									
141690		heart disease, ischemic	CARDIOVASCULAR	CARD		22	22q12-q13.1	PPARA	44925162	45018317		Zateishchikov, D. A.  et al. 2004	15699916				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Kardiologiia. 2004 ;44(12):16-22	[Genetic Predictors of Unfavorable Course in High Risk Patients With Ischemic Heart Disease. Data of Follow-up for Two Years.]		170998	26511	2	2004	Thus genetic factors play a role not only in formation of coronary atherosclerosis but determine the course of ischemic heart disease.	Cohort 154 patients with acute unstable angina 										
141691		triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	22	22q12-q13.1	PPARA	44925162	45018317		Foucher, C.  et al. 2004	15608561				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2004 Dec;14(12):823-9	Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes		170998	27180	2	2004	 These results indicate that elevated baseline TG levels and PPARA gene intron 7 G/G genotype were associated with TG reduction > 30% after fenofibrate treatment in patients with type 2 diabetes.	Cohort subjects with type 2 diabetes treated with micronized fenofibrate 	fenofibrate									
141692		hypertension	CARDIOVASCULAR	CARD	Hypertension	22	22q12-q13.1	PPARA	44925162	45018317		Liljedahl, U.  et al. 2003	12544508				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		170998	28564	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
141693	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	PSMB9	32929915	32935606		Kawaguchi Y et al. 1994	7911550				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			KGB	5698	Hs.132682			Life sciences. 1994 ;54(26):2049-53	Absence of association of TAP and LMP genes with type 1 (insulin-dependent) diabetes mellitus.		177045	5199	1	1994												
141695	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	6	6p21.3	PSMB9	32929915	32935606	n	Maksymowych WP et al. 1997	9348140				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			KGB	5698	Hs.132682			Clinical rheumatology. 1997 Sep;16(5):461-5	Polymorphism of the LMP2 gene and disease phenotype in ankylosing spondylitis: no association with disease severity.		177045	5201	1	1997												
141696	Y	Graves disease	IMMUNE	IMM	Graves Disease	6	6p21.3	PSMB9	32929915	32935606		Heward JM et al. 1999	10468973				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			KGB	5698	Hs.132682			Clinical endocrinology. 1999 Jul;51(1):115-8	Association of the large multifunctional proteasome (LMP2) gene with Graves' disease is a result of linkage disequilibrium with the HLA haplotype DRB1*0304-DQB1*02-DQA1*0501.		177045	5202	1	1999	 These results show that association of the LMP 2 locus with Graves' disease is due to linkage disequilibrium with the associated HLA haplotype DRB1*0304-DQB1*02-DQA1*0501.											
141697		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	PSMB9	32929915	32935606		Ding H 2004	11601002				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			Y Wang	5698	Hs.132682			Zhonghua yi xue za zhi. 1999 Jan;79(1):28-30	[Relationship of polymorphism of LMP2 gene to insulin-dependent diabetes mellitus and DR3 gene]		177045	7524	1	2004	 There may be a significant association of LMP2-R/H and LMP2-R/R with the susceptibility to IDDM. The LMP2-R/H is a susceptible gene. The people with LMP2-R/H have a higher risk of suffering from IDDM. The LMP2-R/R is a protective gene. The people with LMP2-R/R have a decreased risk of suffering from IDDM. The effects of LMP2 on ID-DM are not affected by DR3 gene.	Case:68 insulin-dependent diabetes mellitus patients;Control:71 healthy controls										
141698		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	PSMB9	32929915	32935606		Undlien DE 2004	9000709				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4		Norway	Y Wang	5698	Hs.132682			Diabetes. 1997 Feb;46(2):307-12	No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM.		177045	7525	1	2004												
141699		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	PSMB9	32929915	32935606		Deng GY 2004	7847389				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Caucasian		Y Wang	5698	Hs.132682			American journal of human genetics. 1995 Feb;56(2):528-34	Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.		177045	7526	1	2004												
141700		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Cadaver|Genetic Predisposition to Disease	6	6p21.3	PSMB9	32929915	32935606		Mishto, M.  et al. 2006	16298241				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Neurobiology of aging. 2006 Jan;27(1):54-66	Immunoproteasome and LMP2 polymorphism in aged and Alzheimer's disease brains.		177045	13372	2	2006												
141701	Y	malaria; hypoglycemia; hyperparasitemia	INFECTION	INF	Malaria	6	6p21.3	PSMB9	32929915	32935606		Niesporek, S.  et al. 2005	15686587			promoter	Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	African children	Africa	CDC GDPinfo	5698	Hs.132682			International journal of immunogenetics. 2005 Feb;32(1):11-Jul	Polymorphisms of transporter associated with antigen processing type 1 (TAP1), proteasome subunit beta type 9 (PSMB9) and their common promoter in African children with different manifestations of malaria.		177045	14160	2	2005												
141702		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	PSMB9	32929915	32935606		Ding, H.  et al. 1999	11601002				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Zhonghua yi xue za zhi. 1999 Jan;79(1):28-30	[Relationship of polymorphism of LMP2 gene to insulin-dependent diabetes mellitus and DR3 gene]		177045	14426	2	1999	 There may be a significant association of LMP2-R/H and LMP2-R/R with the susceptibility to IDDM. The LMP2-R/H is a susceptible gene. The people with LMP2-R/H have a higher risk of suffering from IDDM. The LMP2-R/R is a protective gene. The people with LMP2-R/R have a decreased risk of suffering from IDDM. The effects of LMP2 on ID-DM are not affected by DR3 gene.	Case:68 insulin-dependent diabetes mellitus patients;Control:71 healthy controls										
141703		diabetes, type 1	IMMUNE	IMM		6	6p21.3	PSMB9	32929915	32935606		Ding, H. L.  et al. 2000	11819535				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Chinese		CDC GDPinfo	5698	Hs.132682			World journal of gastroenterology. 2000 Feb;6(1):111-114	The relationship of lmp2 and DR3 genes with susceptibility to type I diabetes mellitus in south China Han population.		177045	19939	2	2000	DR3 gene may be one of the susceptible genes of I-DM,and significantly related to the onset age of diabetics, and the persons with DR3 may have an younger onset age of diabetes.The lmp2-R/R may be the protective genotype of I-DM, and lmp2-R/H the susceptible genotype. These were not affected by DR3 gene. lmp2 genotypes were not related with the onset age of diabetics.	Case:68 patients with type I diabetes mellitus;Control:71 healthy controls										
141704		interferon response	IMMUNE	IMM		6	6p21.3	PSMB9	32929915	32935606		Mishto, M.  et al. 2002	11772516				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Experimental gerontology. 2002 Jan-Mar;37(3-Feb):301-8	Age dependent impact of LMP polymorphisms on TNFalpha-induced apoptosis in human peripheral blood mononuclear cells		177045	23300	2	2002	No correlation with TNFalpha-induced apoptosis and no difference in frequency between young people and nonagenarians/centenarians was observed when the LMP7 nucleotide 145 polymorphism was studied.	Case:157 nonagenarians and centenarians;Control:311 young people										
141705		Alzheimers disease; juvenile arthritis	NEUROLOGICAL	NEUR		6	6p21.3	PSMB9	32929915	32935606		Vargas-Alarcon, G.  et al. 2002	12209365				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Mexican		CDC GDPinfo	5698	Hs.132682			Genes and immunity. 2002 Sep;3(6):373-7	LMP2 and LMP7 gene polymorphism in Mexican populations: Mestizos and Amerindians.		177045	23301	2	2002	The present data corroborate the influence of Spaniard and Amerindian genes in the Mexican Mestizo population and could help to define the true significance of LMP polymorphism as genetic and evolutive marker in the Amerindian populations.	Cohort 312 Mexican individuals (95 Mexican Mestizos, 48 Nahuas, 56 Mazatecans, 50 Teenek, and 63 Mayos) belonging to different ethnic groups 										
141706		spondyloarthropathies	IMMUNE	IMM	Arthritis, Reactive|Spondylarthropathies|Spondylitis, Ankylosing	6	6p21.3	PSMB9	32929915	32935606		Vargas-Alarcon, G.  et al. 2004	15603870				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Mexican	Mexico	CDC GDPinfo	5698	Hs.132682			Human immunology. 2004 Dec;65(12):1437-42	Association study of LMP gene polymorphisms in Mexican patients with spondyloarthritis.		177045	23302	2	2004	The data suggest that, besides HLA-B27, LMP2 genotypes are also involved in the genetic susceptibility to develop AS in Mexicans. Furthermore, the age at onset of this disease might also be influenced by genotypes of this gene.	Control:139 ethnically matched healthy individuals;Case:223 Mexican patients with spondyloarthritis (81 undifferentiated SpA, 117 with ankylosing spondylitis [AS], 25 with reactive arthritis)										
141707		hepatitis B	INFECTION	INF		6	6p21.3	PSMB9	32929915	32935606		Dai, Y.  et al. 2005	16224524				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Beijing da xue xue bao Yi xue ban. 2005 Oct;37(5):508-12	[Association between LMP2/LMP7 gene polymorphism and the infection of hepatitis B virus]		177045	23303	2	2005	 These findings suggest that polymorphisms of LMP2/LMP7 gene is one of the important host factors which independently affect on the infection of hepatitis B virus.											
141708		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Acute Disease	6	6p21.3	PSMB9	32929915	32935606			16396320				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Tsitol Genet. 2005 Nov-Dec;39(6):50-4	[The frequency of allelic polymorphism of genes encoding immunoproteasome catalytic subunits in acute coronary syndrome patients]		177045	23304	2	2005												
141709		interferon response	IMMUNE	IMM	Hepatitis C, Chronic	6	6p21.3	PSMB9	32929915	32935606		Sugimoto, Y.  et al. 2002	12225333				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Journal of viral hepatitis. 2002 Sep;9(5):377-84	A single nucleotide polymorphism of the low molecular mass polypeptide 7 gene influences the interferon response in patients with chronic hepatitis C.		177045	23305	2	2002	These findings suggest that a single nucleotide polymorphism of LMP7 gene is one of the important host factors which independently influence the response to IFN in patients with chronic hepatitis C.	Cohort 175 hepatitis C virus (HCV) patients 										
141710		multiple sclerosis; IgA nephropathy	IMMUNE	IMM		6	6p21.3	PSMB9	32929915	32935606		Zhu, X.  et al. 2000	11775239				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Chinese		CDC GDPinfo	5698	Hs.132682			Chinese medical journal. 2000 Apr;113(4):372-5	Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese.		177045	25473	2	2000	 The polymorphisms of antigen-processing genes in this Shanghai population are similar to those observed in the other ethnic populations. No association was found between IgAN or MS and any antigen-processing genes tested in Shanghai population.	Case:21 patients with multiple sclerosis:China;Case:60 patients with IgA nephropathy:China;Control:80 normal Shanghai Chinese										
141712		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSMB9	32929915	32935606		Pyo, C. W.  et al. 2003	12648225				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Korean	Korea	CDC GDPinfo	5698	Hs.132682			The Journal of investigative dermatology. 2003 Apr;120(4):616-22	Association of TAP and HLA-DM genes with psoriasis in Koreans.		177045	26526	2	2003	In conclusion, our data suggest that the TAP and HLA-DM alleles could lead to genetic susceptibility toward psoriasis in Koreans.	Control:184 healthy controls;Case:98 Korean psoriasis patients										
141713		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease|Diseases in Twins	6	6p21.3	PSMB9	32929915	32935606		Brown, M. A.  et al. 2002	12118167				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Current opinion in rheumatology. 2002 Jul;14(4):354-60	Genetic aspects of susceptibility, severity, and clinical expression in ankylosing spondylitis.		177045	27184	2	2002	Review article											
141714		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	PSMB9	32929915	32935606		Forre, O.  et al. 2002	12195624				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDPinfo	5698	Hs.132682			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		177045	28186	2	2002	Review article											
141715		coronary artery disease; diabetes, type 2; lipoproteins; longevity	CARDIOVASCULAR	CARD	Coronary Disease	20	20p13	PTPRA	2792824	2967315		Benes, P.  et al. 2001	11357934				Protein tyrosine phosphatase, receptor type, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002836.2	Czech	Czech Republic	CDC GDPinfo	5786	Hs.269577			Journal of molecular medicine (Berlin, Germany). 2001 Apr;79(3-Feb):116-20	The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population.		176884	13431	2	2001	Our results demonstrate that the T allele of the C766T LRP polymorphism is negatively related to longevity, and that it increases the risk of CAD development in subjects with the 5G/5G PAI-1 genotype.	Control:525 volunteers with no symptoms or clinical signs of:CAD;Case:654 patients with angiographically confirmed coronary artery disease										
141716		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p13	PTPRA	2792824	2967315		Verpillat, P.  et al. 2001	11436129				Protein tyrosine phosphatase, receptor type, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002836.2	French	France	CDC GDPinfo	5786	Hs.269577			European journal of human genetics. 2001 Jun;9(6):464-8	Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.		176884	19189	2	2001	the separate study of each polymorphism showed no significant difference in genotype and allele frequencies between AD cases and controls. We found that the frequency of the 91-C haplotype was higher in cases than in controls, but the type I error was 0.061, slightly higher than the conventional one of 5%. The haplotype frequencies did not vary significantly as a function of age and APOE epsilon4 status. One interest in this study is the use of the haplotype analysis, which can be used to combine information from several polymorphisms, taking into account their dependence.	Case:274 274 Caucasian Alzheimer's Disease patients:France;Control:290 matched controls										
141717		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p13	PTPRA	2792824	2967315		McIlroy, S. P.  et al. 2001	11496365				Protein tyrosine phosphatase, receptor type, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002836.2		Northern Ireland	CDC GDPinfo	5786	Hs.269577			American journal of medical genetics. 2001 Aug;105(6):502-6	Common polymorphisms in LRP and A2M do not affect genetic risk for Alzheimer disease in Northern Ireland.		176884	23316	2	2001	The results from this study indicate that polymorphisms in LRP and A2M are not associated with increased risk for AD in Northern Ireland.	Case large group of clinically well-defined AD cases from the relatively genetically homogeneous Northern Ireland population Northern Ireland;Control controls from the relatively genetically homogeneous Northern Ireland population Northern Ireland										
141718		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	20	20p13	PTPRA	2792824	2967315		Schweer, D.  et al. 2001	11498265				Protein tyrosine phosphatase, receptor type, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002836.2		Germany	CDC GDPinfo	5786	Hs.269577			Journal of neuroimmunology. 2001 Aug;118(2):300-3	No association of three polymorphisms in the alpha-2-macroglobulin and lipoprotein related receptor genes with multiple sclerosis.		176884	23317	2	2001	The results do not suggest a contribution of A2M and LRP to the development of MS.	Control:290 healty donors without personal or family history of MS, comparable to cases with respect to ethnicity,:age, gender;Case:326 MS patients										
141719	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20p13	PTPRA	2792824	2967315		Hu, C.  et al. 2000	11099722				Protein tyrosine phosphatase, receptor type, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002836.2	Chinese		CDC GDPinfo	5786	Hs.269577			Journal of the neurological sciences. 2000 Dec;181(2-Jan):127-31	Genetic risk factors of sporadic Alzheimer's disease among Chinese in Taiwan		176884	26535	2	2000	Among these nine candidate genes of AD, the ApoE-4 allele is the only independent genetic risk factor for AD. The other candidate genes in this study were not associated with the occurrence of AD. In addition, there are no gene-gene interactions.	Control:110 non-affected elder individuals among:Taiwan;Case:82 AD patients:Taiwan										
141721		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	11	11q23	PVRL1	119014017	119104645		Ichikawa, E.  et al. 2005	16247549				Hypothetical protein MGC16207	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002855.4	Japanese		CDC GDPinfo	5818	Hs.334846			Journal of human genetics. 2006 ;51(1):38-46	PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-basedcandidate gene analyses.		600644	26536	2	2005												
141722		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Disease Models, Animal	11	11q23	PVRL1	119014017	119104645		Murray, J. C.   2002	12030886				Hypothetical protein MGC16207	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002855.4			CDC GDPinfo	5818	Hs.334846			Clinical genetics. 2002 Apr;61(4):248-56	Gene/environment causes of cleft lip and/or palate.		600644	27824	2	2002	Review article											
141723	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2p12	REG1B	79165658	79168627	n	Banchuin N et al. 2002	11796176				Regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006507.2			Y Wang	5968	Hs.4158			Diabetes research and clinical practice. 2002 Feb;55(2):105-11	No abnormalities of reg1 alpha and reg1 beta gene associated with diabetesmellitus.		167771	7527	1	2002	In conclusion, using PCR-SSCP and nucleotide sequence analyses, we did not find any association between abnormalities of either reg1alpha or reg1beta gene with any type of diabetes studied.	Control:22 normal controls;Case:37 patients with type 2 diabetes mellitus;Case:42 patients with type 1 diabetes mellitus										
141724		diabetes, type 2	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	2	2p12	REG1B	79165658	79168627		Banchuin, N.  et al. 2002	11796176				Regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006507.2			CDC GDPinfo	5968	Hs.4158			Diabetes research and clinical practice. 2002 Feb;55(2):105-11	No abnormalities of reg1 alpha and reg1 beta gene associated with diabetes mellitus.		167771	23330	2	2002	In conclusion, using PCR-SSCP and nucleotide sequence analyses, we did not find any association between abnormalities of either reg1alpha or reg1beta gene with any type of diabetes studied.	Control:22 normal controls;Case:37 patients with type 2 diabetes mellitus;Case:42 patients with type 1 diabetes mellitus										
141725		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	1	1p36.11	RHCE	25561326	25629270			11436564				Rhesus blood group, CcEe antigens	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020485.3			CDC GDPinfo	6006	Hs.449968			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		111700	27986	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
141726		hemolytic disease of the newborn	HEMATOLOGICAL	HEM		1	1p36.11	RHD	25471567	25529523		Xu, Q.  et al. 2003	14570619				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3	Chinese		CDC GDPinfo	6007	Hs.643556			Chinese medical journal. 2003 Oct;116(10):1539-43	RHD gene polymorphism among RhD-negative Han Chinese.		111680	13511	2	2003	 Three classes of RhD-negative polymorphisms among a population of Han Chinese were observed. Antigen association analysis suggested the existence of a novel class of RhD-negative associated haplotype in Han Chinese. This haplotype consisted of a normal RHCE allele and a nonfunctional RHD gene. It may be beneficial to redefine the RhD-negative blood group among Chinese populations upon clarification of the mechanisms of RHD gene expression and RhD antigen immunization.	Cohort 131 Chinese Han blood donors who were classified as RhD-negative by serological methods 										
141727		hemolytic disease of the newborn	HEMATOLOGICAL	HEM		1	1p36.11	RHD	25471567	25529523		Chen, Q.  et al. 2005	15987365				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDPinfo	6007	Hs.643556			Transfusion. 2005 Jul;45(7):1183-91	Random survey for RHD alleles among D+ European persons.		111680	13512	2	2005	 In a limited screen at the molecular level among 1000 random D+ donors in southwestern Germany, 20 donors were found carrying aberrant RHD alleles. Four of these alleles were new and likely sporadic. An estimate was derived of the variety that may be encountered in genotyping approaches, and it was concluded that even within the European population the variety of RHD alleles may be larger than anticipated.											
141728		hemolytic disease of the newborn	HEMATOLOGICAL	HEM	Erythroblastosis, Fetal	1	1p36.11	RHD	25471567	25529523		Chan, F. Y.  et al. 2001	11288127				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDPinfo	6007	Hs.643556			Prenatal diagnosis. 2001 Apr;21(4):321-6	Prenatal RHD gene determination and dosage analysis by PCR: clinical evaluation		111680	19265	2	2001	 The present study demonstrates the effectiveness of using PCR in a clinical setting. It verifies the importance of testing more than one region of the gene, and also the need for a testing strategy where both maternal and paternal testing for RHD gene dosages are performed.	Cohort Samples comprising maternal (57) and paternal (42) peripheral blood samples, amniotic fluid (64), and matching cord blood (64) 										
141729		RhD-negative sensitized pregnancy	UNKNOWN	UNK	Fetal Diseases|Pregnancy Complications, Hematologic|Rh Isoimmunization	1	1p36.11	RHD	25471567	25529523		Costa, J. M.  et al. 2002	12358932				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDPinfo	6007	Hs.643556			British journal of haematology. 2002 Oct;119(1):255-60	Fetal RHD genotyping in maternal serum during the first trimester of pregnancy.		111680	19266	2	2002	The high level of accuracy of fetal RHD genotyping obtained in this study could enable this technique to be offered on a routine basis for the management of RhD-negative patients during the first trimester of pregnancy.	Cohort 106 sera from RhD-negative pregnant women obtained during the first trimester of pregnancy 										
141730	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p36.11	RHD	25471567	25529523		Palmer, C. G.  et al. 2002	12439825				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3		Finland	CDC GDPinfo	6007	Hs.643556			American journal of human genetics. 2002 Dec;71(6):1312-9	RHD Maternal-Fetal Genotype Incompatibility Increases Schizophrenia Susceptibility		111680	19267	2	2002	Our results replicate previous findings that implicate the RHD locus in schizophrenia, and the candidate-gene design of this study allows the elimination of alternative explanations for the role of this locus in disease. Thus, the present study provides increasing evidence that the RHD locus increases schizophrenia risk through a maternal-fetal genotype incompatibility mechanism that increases risk of an adverse prenatal environment (e.g., Rh incompatibility) rather than through linkage/association with the disorder, linkage disequilibrium with an unknown nearby susceptibility locus, or a direct maternal effect alone. This is the first candidate-gene study to explicitly test for and provide evidence of a maternal-fetal genotype incompatibility mechanism in schizophrenia.	Cohort 72/21 schizophrenic patient-mother pairs (n=72), and patient-father pairs (n=21) 										
141731		schizophrenia	PSYCH	PSY	Rh Isoimmunization	1	1p36.11	RHD	25471567	25529523		Ansart-Pirenne, H.  et al. 2004	15318849				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3	Caucasian		CDC GDPinfo	6007	Hs.643556			Transfusion. 2004 Sep;44(9):1282-6	RhD variants in Caucasians: consequences forchecking clinically relevant alleles.		111680	19268	2	2004	 These results provide molecular characterization of five new D variants. They also suggest that it would be advantageous to develop in routine laboratories weak D Type 1 and 2 genotyping for serologically depressed D antigen. It will help to avoid wasting of D- red blood cell units because carriers may safely receive D+ units.	Cohort 168 blood samples from Caucasian individuals 										
141732		atherosclerosis, coronary; cirrhosis, alcoholic	CARDIOVASCULAR	CARD		1	1p36.11	RHD	25471567	25529523		Mukhin, V. N.  et al. 2003	12760254				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3	Russian		CDC GDPinfo	6007	Hs.643556			Genetika. 2003 Apr;39(4):530-3	[Gene frequencies and heterozygosity of the AB0 and RH blood group alleles in the populations of two cities of the Donetsk region, Ukraine]		111680	23340	2	2003	There were no statistically significant differences between the two populations in respect to the genetic markers analyzed. However, the heterozygosity values obtained were more similar to the corresponding estimates for some populations of Russia, than for the total population of the Ukraine.	Cohort populations of two large industrial cities Gorlovka and Mariupol, Ukraine 										
141733		myocardial infarct; Crohn's disease; asthma; malaria; Malaria infection; kawasaki disease; psoriasis vulgaris;	CARDIOVASCULAR	CARD		1	1p36.11	RHD	25471567	25529523		Chiaroni, J.  et al. 2004	15754970				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDPinfo	6007	Hs.643556			Human biology; an international record of research. 2004 Aug;76(4):527-41	Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.		111680	27193	2	2004	These results are in agreement with historical, sociological, and linguistic data.	Cohort 164 individuals from Grande Comore Island Njazidja 										
141734		cirrhosis, alcoholic	OTHER	OTH	Liver Cirrhosis|Genetic Predisposition to Disease	1	1p36.11	RHD	25471567	25529523			11436564				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDPinfo	6007	Hs.643556			Genetika. 2001 May;37(5):698-707	[Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]		111680	28103	2		The TC patients exhibited a significantly higher frequency of the liver glutathione-S-transferase GST1*0 allele, whereas the GST1*2 frequency was two times higher in the control subjects than in the TC patients (0.2522 and 0.0953, respectively). The TC and control groups showed statistically significant differences in the frequencies of the following	Case 34- to 59-year-old male alcoholic toxic cirrhosis:patients;Control control donors of the same sex and age										
141735		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11p15.5	RRM1	4072586	4116682		Isla, D.  et al. 2004	15277258				Transport protein, putative	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033.2			CDC GDPinfo	6240	Hs.558393			Annals of oncology. 2004 Aug;15(8):1194-203	Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer		180410	26546	2	2004	 Patients homozygous for the ERCC1 118 C allele demonstrated a significantly better survival. ERCC1 SNP assessment could be an important component of tailored chemotherapy trials.	Cohort 62 docetaxel-cisplatin-treated advanced non-small-cell lung cancer patients 	cisplatin docetaxel									
141736	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Amyloidosis	11	11p15.1	SAA1	18244345	18248092		Moriguchi M et al. 2001	11407685				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			KGB	6288	Hs.632144			Arthritis and rheumatism. 2001 Jun;44(6):1266-72	A novel single-nucleotide polymorphism at the 5'-flanking region of SAA1 associated with risk of type AA amyloidosis secondary to rheumatoid arthritis.		104750	7543	1	2001	 Our data suggest that the SAA1 -13T allele, rather than SAA1 exon 3 haplotypes, is primarily associated with AA amyloidosis risk.											
141738	Y	amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Yilmaz, E.  et al. 2003	14696796				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDPinfo	6288	Hs.632144			The Turkish journal of pediatrics. 2003 Jul-Sep;45(3):198-202	Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients		104750	13529	2	2003	Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis.	Control:100 heealthy controls;Case:73/100 familial Mediterranean fever (n=73) and amyloidosis:(n=100) patients										
141739		amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Amyloidosis	11	11p15.1	SAA1	18244345	18248092		Nakamura, T.  et al. 2005	16219644				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2	Japanese	Japan	CDC GDPinfo	6288	Hs.632144			Rheumatology (Oxford, England). 2006 Jan;45(1):43-9	Significance of SAA1.3 allele genotype in Japanese patients with amyloidosis secondary to rheumatoid arthritis.		104750	13530	2	2005	 Our data support the fact that homozygosity for the SAA1.3 allele is a univariate predictor of survival in addition to a risk factor for the association of AA amyloidosis adversely influencing the outcome in Japanese RA patients. Renal involvement is a pivotal clinical manifestation in the development of AA amyloidosis, as is likely to be cardiac involvement in AA amyloidosis secondary to RA.											
141741		amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Amyloidosis	11	11p15.1	SAA1	18244345	18248092		Tastan, H.  et al. 2005	16152805				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2	Turkish	Turkey|Azerbaijan	CDC GDPinfo	6288	Hs.632144			Genetika. 2005 Jul;41(7):986-9	The frequencies of the serum amyloid A2 alleles in healthy (Turkish, Azerbaijan and Kazakh) populations.		104750	13532	2	2005												
141742	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Chen, Y.  et al. 2001	11592044				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2	Chinese	China	CDC GDPinfo	6288	Hs.632144			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):366-70	[The association between SA gene and essential hypertension in Han Chinese]		104750	19301	2	2001	 SA gene is not linked to or associated with essential hypertension in Han Chinese. SA gene may not be a susceptible gene contributing to the development of essential hypertension in Han Chinese.	Case:200 Han Chinese essential hypertensives with hypertensive family history;Control:200 Han Chinese normotensive control(NC) subjects without such family history:80 Han Chinese essentially hypertensive sib pairs with hypertensive family history;Control:96 random Han Chinese individuals:Shanhai										
141743		amyloidosis	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	11	11p15.1	SAA1	18244345	18248092		van der Hilst, J. C.  et al. 2005	16011988				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDPinfo	6288	Hs.632144			Amyloid. 2005 Jun;12(2):115-9	Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome.		104750	19304	2	2005	 Patients with HIDS have high SAA during attacks and show sub-clinical inflammation when asymptomatic. The low incidence of amyloidosis cannot be explained by a predominance of non amyloidogenic SAA related genotypes.											
141744		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Gershoni-Baruch, R.  et al. 2003	12687559				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDPinfo	6288	Hs.632144			Arthritis and rheumatism. 2003 Apr;48(4):1149-55	The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.		104750	23349	2	2003	 Overall, disease severity and the development of amyloidosis in FMF are differentially affected by genetic variations within and outside the MEFV gene.	Cohort 277 FMF patients (154 men and 123 women), including 62 patients with nephropathic amyloidosis 										
141747	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16		SA	20694942	20695433		Chen Y et al. 2001	11592044				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622	Chinese	China	KGB	6296	Hs.160976			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):366-70	The association between SA gene and essential hypertension in Han Chinese			5313	1	2001	 SA gene is not linked to or associated with essential hypertension in Han Chinese. SA gene may not be a susceptible gene contributing to the development of essential hypertension in Han Chinese.											
141748	Y	hypertension	METABOLIC	MET	Hypertension|Hypertriglyceridemia|Obesity	16		SAH	20694942	20695433		Iwai N et al. 2002	11772874				Acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622			KGB	6296	Hs.160976			Circulation. 2002 Jan;105(1):41-7	Association between SAH an acyl-CoA synthetase gene and hypertriglyceridemia obesity and hypertension.		145505	7544	1	2002	 The G allele of SAH was found to be associated with multiple risk factors, including hypertriglyceridemia, hypercholesterolemia, obesity, and hypertension. This observation should open a new area for future research in multiple-risk-factor syndromes.											
141749		renal failure, chronic	UNKNOWN	UNK	Kidney Failure, Chronic	16	16p13.11	ACSM3	20682812	20715980		Gumprecht, J.  et al. 2001	11158418				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3			CDC GDPinfo	6296	Hs.642666			Nephrology, dialysis, transplantation. 2001 Feb;16(2):387-90	Human SA gene Pst1 polymorphism and chronic renal failure: results of the family-based study.		145505	8379	2	2001	 Results of the study suggest no major role of SA gene polymorphism in promoting renal damage. However, the limited numbers of patients having both parents alive included in the analysis might have resulted in insufficient power to detect a minor impact of this polymorphism, especially if such effect is confined to a certain aetiology of CRF.	Case:247 patients affected with end-stage renal disease;Control:494 matched parents of cases										
141750	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension|Genetic Predisposition to Disease	16	16p13.11	ACSM3	20682812	20715980		Nalogowska-Glosnicka, K.  et al. 2002	12046348				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3	Caucasian		CDC GDPinfo	6296	Hs.642666			Pol Arch Med Wewn. 2002 Jan;107(1):11-Jul	[Relationship between SA gene Pst1 polymorphism and predisposition to H-gestosis]		145505	8380	2	2002	Based upon the results of our study we can suspect that the SA gene Pst1 polymorphism is associated with the predisposition to PIH in caucasian women.	Case:124 women (median age 28 yrs) suffering from pregnancy-induced hypertension;Control:148 healthy pregnant women (median age 28 yrs)										
141751		hypertension; nephropathy	CARDIOVASCULAR	CARD	Glomerulonephritis, IGA	16	16p13.11	ACSM3	20682812	20715980		Narita, I.  et al. 2002	12484505				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3			CDC GDPinfo	6296	Hs.642666			Hypertension research. 2002 Nov;25(6):831-6	Role of genetic polymorphism in the SA gene on the blood pressure and prognosis of renal function in patients with immunoglobulin A nephropathy.		145505	8381	2	2002	The findings thus suggest that SA gene polymorphism may be associated with the renal prognosis of IgAN through its effect on blood pressure. Further, they suggest that the sensitivity to this gene polymorphism increases in patients with renal injury.	Control:100 controls without any history of renal disease;Case:274 patients with histologically proven IgAN										
141752	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity	16	16p13.11	ACSM3	20682812	20715980		Benjafield, A. V.  et al. 2003	14567496				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3	Caucasian		CDC GDPinfo	6296	Hs.642666			Hypertension research. 2003 Aug;26(8):591-5	Overweight, but not hypertension, is associated with SAH polymorphisms in Caucasians with essential hypertension.		145505	8382	2	2003	In conclusion, the present data offers support for variation in SAH having a role in predisposition to overweight in hypertensives.	Case:121 hypertensives with 2 hypertensive parents;Control:178 normotensives whose parents were both normotensive										
141754	Y	cholesterol; insulin; obesity; blood pressure	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	16	16p13.11	ACSM3	20682812	20715980		Menzaghi, C.  et al. 2002	12086965				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3		Boston|Japan|Italy	CDC GDPinfo	6296	Hs.642666			Diabetes. 2002 Jul;51(7):2306-12	A haplotype at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome.		605441	15059	2	2002	We conclude that  variability at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome, but given the nature of the two SNPs, the risk haplotype is most probably a marker in linkage disequilibrium with an as yet unidentified polymorphism that affects plasma adiponectin levels and insulin sensitivity.	Cohort 413 nondiabetic individuals 										
141755		cholesterol, HDL; hypertension	METABOLIC	MET	Hypertension	16	16p13.11	ACSM3	20682812	20715980		Haketa, A.  et al. 2004	15361761				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3			CDC GDPinfo	6296	Hs.642666			Journal of hypertension. 2004 Oct;22(10):1903-7	Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.		145505	20252	2	2004	 SNPs in the MACS1 and SAH genes contribute to plasma levels of high-density lipoprotein cholesterol.	Control:259 normotensive subjects;Case:287 essential hypertension patients										
141756	N	tumor recurrence	CANCER	CAN	Carcinoma, Transitional Cell|Bladder Neoplasms|Neoplasm Recurrence, Local|Chromosome Deletion	1	1pter-p22.1	SAI1			n	Friedrich MG et al. 2001	11752859				suppression of anchorage independence 1				KGB	6298				European urology. 2001 Nov;40(5):518-24	Frequent p16/MTS1 inactivation in early stages of urothelial carcinoma of the bladder is not associated with tumor recurrence.		154280	5314	1	2001	 We present a comprehensive evaluation of chromosome 9p21 alterations including p16 analysis and clinical follow-up data. Although p16 mutations and homozygote deletions are rarely detectable in Ta, T1 TCC, the reduction of p16 expression and the frequent hemizygote deletions at 9p21 suggest an early involvement of chromosome 9p and p16 in superficial TCC.											
144902	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	11	11q12-q13.5	BSCL2	62214322	62233562		Deluca, G. C.  et al. 2007	17420921				Bernardinelli-Seip congenital lipodystrophy 2 (seipin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032667.4			CDC GDP info	26580	Hs.533709			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		606158		CDC	2007												
149959		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p11	IL21R	27321223	27369616		Asano, K.  et al. 2007	17462506				Interleukin 21 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021798.2			CDC GDP info	50615	Hs.210546			Hum Immunol    2007    68(5)    384-91	Molecular scanning of interleukin-21 gene and genetic susceptibility to type 1 diabetes		605383		CDC	2007												
141760		ataxia	OTHER	OTH	Ataxia			SCA8				Schols L 2003	12838526				kelch-like 1 antisense	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF126749			KGB	6315	Hs.569285			Annals of neurology. 2003 Jul;54(1):110-5	Do CTG expansions at the SCA8 locus cause ataxia?			5320	1	2003												
141761		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	13	13q21	ATXN8OS	69579345	69611685		SULEK, A.  et al. 2004	14960773				kelch-like 1 antisense			Poland	CDC GDPinfo	6315	Hs.569285			Journal of applied genetics. 2004 ;45(1):101-5	Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes:allele distribution in a Polish control group		603680	13533	2	2004	As such expanded alleles were also observed in their healthy relatives, the pathogenic role of expansions in the SCA8 gene remains uncertain.	Cohort 1,000 Polish individuals without any neurologic signs 										
141762		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Genetic Predisposition to Disease	13	13q21	ATXN8OS	69579345	69611685		Cellini, E.  et al. 2001	11708995				kelch-like 1 antisense		Italian	Italy	CDC GDPinfo	6315	Hs.569285			Archives of neurology. 2001 Nov;58(11):1856-9	Genetic and Clinical Analysis of Spinocerebellar Ataxia Type 8 Repeat Expansion in Italy		603680	17948	2	2001	 Our data support the evidence that CTG expansions may be linked to SCA8, since the pathogenic expansions have been found only among patients with genetically unidentified forms of hereditary and sporadic ataxia. Patients carrying expanded alleles present peculiar phenotypic features, thus suggesting that unknown additional factors could probably predispose to the disease.	Control:125 patients with psychiatric disorders;Control:161 control subjects not otherswise specified;Case:167 patients affected by sporadic, autosomal dominant and recessive hereditary ataxia										
141763		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Degenerations	13	13q21	ATXN8OS	69579345	69611685		Tazon, B.  et al. 2002	12431257				kelch-like 1 antisense		Spanish	Spain	CDC GDPinfo	6315	Hs.569285			Clinical genetics. 2002 Nov;62(5):404-9	SCA8 in the Spanish population including one homozygous patient		603680	17949	2	2002	Our results provide additional information about the SCA8 expansion, within the Spanish population. These results are in agreement with the hypothesis of the CTG expansion in the SCA8 locus being responsible for the SCA8 ataxia showing reduced penetrance. Besides homozygous status, advancing age at onset (as previously described for other SCAs) supports this idea.	Control:149 individuals from the Spanish population;Case:97 ataxic patients										
141764		schizophrenia; ataxia	PSYCH	PSY	Spinocerebellar Ataxias	13	13q21	ATXN8OS	69579345	69611685		Zeman, A.  et al. 2004	14966165				kelch-like 1 antisense			Scotland	CDC GDPinfo	6315	Hs.569285			Journal of neurology, neurosurgery, and psychiatry. 2004 Mar;75(3):459-65	Spinocerebellar ataxia type 8 in Scotland: geneticand clinical features in seven unrelated cases and a review of published reports		603680	17951	2	2004	 SCA 8 expansion is a risk factor for a cerebellar syndrome, often associated with upper motor neurone and neuropsychiatric features. The expansion occurs unexpectedly often in the general population.	Control:1,190/137 anonymised controls (nn=1,190) and subjects who had tested negative for Huntington's disease (n=137);Case:176/173 schizophrenics (n=176) and subjects with undiagnosed ataxia (n=173)										
141765		ataxia (SCA)	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Disease Progression	13	13q21	ATXN8OS	69579345	69611685		Brusco, A.  et al. 2002	12140678				kelch-like 1 antisense		Italian	Italy	CDC GDPinfo	6315	Hs.569285			Journal of neurology. 2002 Jul;249(7):923-9	Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.		603680	19306	2	2002	Our data suggest a possible pathogenetic role of this mutation, which at present is still controversial, and confirm the rarity of the SCA12 expansion in Italian patients.	Cohort 134 ataxic patients (22 familial and 112 sporadic, tested negative for SCAI-3, 6, 7) 										
141766	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q21	ATXN8OS	69579345	69611685		Lee-Chen, G. J.  et al. 2005	16054804				kelch-like 1 antisense				CDC GDPinfo	6315	Hs.569285			Schizophrenia research. 2005 Oct;78(3-Feb):131-6	Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia.		603680	19307	2	2005												
141767		ataxia (SCA)	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias	13	13q21	ATXN8OS	69579345	69611685		Izumi, Y.  et al. 2003	12545428				kelch-like 1 antisense			Japan	CDC GDPinfo	6315	Hs.569285			American journal of human genetics. 2003 Mar;72(3):704-9	SCA8 repeat expansion: large CTA/CTG repeat allelesare more common in ataxic patients, including those with SCA6		603680	22720	2	2003	We speculate that the presence of a large SCA8 CTA/CTG repeat allele influences the function of channels such as alpha(1A)-voltage-dependent calcium channel through changing or aberrant splicing, resulting in the development of cerebellar ataxia, especially in homozygous patients.	Case a large group of Japanese subjects with SCA;Control healthy controls										
141768		myotonic dystrophy type 1	OTHER	OTH	Spinocerebellar Ataxias	13	13q21	ATXN8OS	69579345	69611685		Savic, D.  et al. 2001	11807410				kelch-like 1 antisense				CDC GDPinfo	6315	Hs.569285			Psychiatric genetics. 2001 Dec;11(4):201-5	Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?		603680	27067	2	2001	Allele frequency distributions for all tested loci were similar in these three groups with the exception of the SCA1 locus. In DM1 patients, the SCA1 allele with 31 CAG repeats account for 40.4% of all chromosomes tested, which is significantly higher than in two other groups (11.3% in healthy controls and 6.6% in the group of non-triplet diseased patients; P < 0.001, Fisher's exact test). This is consistent with our previous findings in HD patients. The absence of this association in non-triplet diseases as well as in healthy controls could indicate a possible role of this SCA1 allele with 31 repeats in triplet diseases. Here we discuss a possible role of the SCA1 region in pathological trinucleotide repeat expansions.	Control:133 healthy control subjects;Case:52 myotonic dystrophy type 1 patients;Control:68 patients with non-triplet neuromuscular diseases caused by point mutations, deletions or:duplications										
141770	Y	febrile seizures	INFECTION	INF	Seizures, Febrile	2		SCN2A	165804157	165957066		Nakayama J et al. 2002	12165424				sodium channel, voltage-gated, type II, alpha 1				KGB	6325				Neuroscience letters. 2002 Aug;329(2):249-51	Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.		182390	5323	1	2002												
141773	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q23.2	TAAR6	132933153	132934191		Duan, S.  et al. 2005	16075187				schizophrenia disorder 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175067.1	Chinese		CDC GDPinfo	319100	Hs.434196			J Neural Transm. 2006 Mar;113(3):381-5	Failure to find association between TRAR4 and schizophrenia in the Chinese Han population.		608923	19343	2	2005	We conclude that  TRAR4 is not a major or independent determinant in the occurrence of schizophrenia in the Chinese Han population.											
141774	Y	respiratory-distress syndrome	CARDIOVASCULAR	CARD	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease|Birth Weight	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Ramet M et al. 2000	10762543				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3	Finnish	Finland	KGB	6435	Hs.523084			American journal of human genetics. 2000 May;66(5):1569-79	Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population.		178630	5381	1	2000	We conclude that  the SP-A gene locus is an important determinant for predisposition to RDS in premature infants.											
141775		respiratory distress syndrome (RDS)	INFECTION	INF	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Floros J et al. 2001	11595019				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			KGB	6435	Hs.523084			Clinical genetics. 2001 Sep;60(3):178-87	Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences.		178630	5382	1	2001												
141777	Y	respiratory syncytial virus infection	INFECTION	INF	Respiratory Syncytial Virus Infections	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Lofgren J et al. 2002	11807709				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			KGB	6435	Hs.523084			The Journal of infectious diseases. 2002 Feb;185(3):283-9	Association between surfactant protein A gene locus and severe respiratory syncytial virus infection in infants.		178630	5384	1	2002	These results indicate that a genetic association exists between SP-A gene locus and severe RSV infection.	Case:86 infants with severe RSV infection;Control:95 matched control subjects										
141778		respiratory distress syndrome	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Diseases in Twins	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Marttila R 2003	12947025				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			KGB	6435	Hs.523084			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1216-22	Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins.		178630	5385	1	2003												
141779		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Seifart, C.  et al. 2005	15996209				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			Clinical genetics. 2005 Aug;68(2):128-36	Rare SP-A alleles and the SP-A1-6A(4) allele associate with risk for lung carcinoma.		178630	13715	2	2005												
141781		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Madan, T.  et al. 2002	12476938				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3	Indian	India	CDC GDPinfo	6435	Hs.523084			Clinical chemistry and laboratory medicine. 2002 Oct;40(10):1002-8	Association of polymorphisms in the collagen region of human SP-A1 and SP-A2 genes with pulmonary tuberculosis in Indian population.		178630	13717	2	2002	The results indicated that these SNPs in the collagen region of SP-A2 may be one of the contributing factors to the genetic predisposition to pulmonary tuberculosis.	Case patients with pulmonary tuberculosis;Control:controls										
141782	Y	bronchopulmonary aspergillosis	UNKNOWN	UNK	Aspergillosis, Allergic Bronchopulmonary|Eosinophilia	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Saxena, S.  et al. 2003	12743564				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			The Journal of allergy and clinical immunology. 2003 May;111(5):1001-7	Association of polymorphisms in the collagen region of SP-A2 with increased levels of total IgE antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis.		178630	13718	2	2003	 The results indicated that SP-A2 G1649C and SP-A2 A1660G, polymorphisms in the collagen region of SP-A2, might be one of the contributing factors to genetic predisposition and severity of clinical markers of ABPA.	Case patients with allergic bronchopulmonary:aspergillosis;Control age-matched, unrelated controls										
141783		pulmonary edema	CARDIOVASCULAR	CARD	Pulmonary Edema|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Saxena, S.  et al. 2005	16162765				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			Chest. 2005 Sep;128(3):1611-9	Association of polymorphisms in pulmonary surfactant protein A1 and A2 genes with high-altitude pulmonary edema.		178630	13719	2	2005	 The polymorphisms in SP-A1 (C1101T, T3192C, and T3234C) and SP-A2 (A3265C) might be one of the genetic factors contributing to susceptibility to HAPE.											
141784		respiratory distress syndrome	UNKNOWN	UNK	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Haataja, R.  et al. 2000	11063734				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3		Finland	CDC GDPinfo	6435	Hs.523084			Human molecular genetics. 2000 Nov;9(18):2751-60	Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.		178630	19419	2	2000	We propose that the SP-B Ile131Thr polymorphism is a determinant for certain SP-A alleles as factors causing genetic susceptibility to RDS (6A(2), 1A(0)) or protection against it (6A(3), 1A(2)).	Case not described in abstract		SP-B	Ile131Thr	SP-A1	6A(2)			Y		neonatal respiratory distress syndrome
141785	Y	respiratory syncytial virus infection	INFECTION	INF	Respiratory Syncytial Virus Infections	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Lofgren, J.  et al. 2002	11807709				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			The Journal of infectious diseases. 2002 Feb;185(3):283-9	Association between surfactant protein A gene locus and severe respiratory syncytial virus infection in infants.		178630	19420	2	2002	These results indicate that a genetic association exists between SP-A gene locus and severe RSV infection.	Case:86 infants with severe RSV infection;Control:95 matched control subjects										
141787		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Selman, M.  et al. 2003	13680361				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			Human genetics. 2003 Nov;113(6):542-50	Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis		178630	19423	2	2003	These findings indicate that surfactant protein variants may serve as markers to identify subgroups of patients at risk, and we speculate that these contribute to IPF pathogenesis.	Control:194 healthy controls:Cohort:84 nonsmoking and smoking idiopathic pulmonary fibrosis patients	smoking (tobacco)									
141788		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Rova, M.  et al. 2004	15102713				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			Human molecular genetics. 2004 Jun;13(11):1095-104	Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia		178630	19424	2	2004	We propose that two separate SP-B gene polymorphisms have a phenotypic significance via	Case preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks with bronchopulmonary dysplasia;Control preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks without bronchopulmonary dysplasia										
141790		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	1	1q22-q24	SKI	2149993	2229316		Lu, W.  et al. 2005	16054854				V-ski sarcoma viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003036.1			CDC GDPinfo	6497	Hs.642701			Molecular genetics and metabolism. 2005 Nov;86(3):412-6	Genetic variation in the proto-oncogene SKI and risk for orofacial clefting.		164780	19453	2	2005	 In a population of California infants with craniofacial defects, a novel polymorphism of the SKI gene was found to be associated with a decreased risk for orofacial defects. The function of this polymorphism and how it might confer protection to the embryo against craniofacial malformations is currently under investigation in our laboratory.											
141791		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1q22-q24	SKI	2149993	2229316			16327884				V-ski sarcoma viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003036.1			CDC GDPinfo	6497	Hs.642701			PLoS Genet    2005    1(6)    e64	Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate		164780	27992	2	2005												
141792	Y	cystinuria	OTHER	OTH	Male Urogenital Diseases|Kidney Calculi|Cystinuria|Female Urogenital Diseases	2	2p16.3	SLC3A1	44356102	44401443		Guillen M et al. 2000	10798361				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2		Mediterranean Region|Spain	KGB	6519	Hs.112916			Human genetics. 2000 Mar;106(3):314-20	Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.		104614	7545	1	2000												
141793		glycogen storage disease	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Guillen, M.  et al. 2001	11458794				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2	Spanish	Spain	CDC GDPinfo	6519	Hs.112916			Rev Clin Esp. 2001 May;201(5):256-9	[Sensitivity, specificity and predictive value of the genetic analysis of SLC3A1 gene variants used for the diagnosis of cystinuria among the spanish population]		104614	19503	2	2001	 The studied genetic variants did not show enough clinical usefulness.	Control:44 relatives without cystinuria;Case:48 patients with cystinuria;Control:81 healthy controls										
141794		cystinuria	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Harnevik, L.  et al. 2001	11748844				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2	Swedish	Sweden	CDC GDPinfo	6519	Hs.112916			Human mutation. 2001 Dec;18(6):516-25	Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.		104614	19504	2	2001	Future investigation of the non-type I cystinuria gene SLC7A9 may complement our results but recent studies also suggest the presence of other potential disease genes.	Cohort 53 cystinuria patients Sweden 										
141795	N	cystinuria	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Guillen, M.  et al. 2005	15691362				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2	Spanish	Spain	CDC GDPinfo	6519	Hs.112916			Clinical genetics. 2005 Mar;67(3):240-51	Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.		104614	19505	2	2005	Although some molecular variants within the SLC3A1 gene were associated with clinical traits in cystinuria patients, the low detection rate of mutations in this gene strongly suggests that variation of the SLC3A1 is not the major genetic factor contributing to cystinuria in this Mediterranean population.	Control:44/81 healthy relatives (n=44) and unrelated controls:(n=81);Case:48 cytinuria patients East Mediterranean coast of Spain										
141796		cystinuria	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Strologo, L. D.  et al. 2002	12239244				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2			CDC GDPinfo	6519	Hs.112916			Journal of the American Society of Nephrology. 2002 Oct;13(10):2547-53	Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a newclassification.		104614	19611	2	2002	Clinical data show that cystinuria is more severe in males than in females. The two types of cystinuria (A and B) had a similar outcome in this retrospective study, but the effect of the treatment could not be analyzed. Stone events do not correlate with amino acid urinary excretion. Renal function was clearly impaired in 17% of the patients.	Case:224 patients affected by cystinuria;Control:83 healthy controls										
141797	Y	cystinuria	METABOLIC	MET	Cystinuria|Genetic Predisposition to Disease	2	2p16.3	SLC3A1	44356102	44401443		Harnevik, L.  et al. 2003	12820697				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2	Swedish	Sweden	CDC GDPinfo	6519	Hs.112916			Genetic testing. 2003 ;7(1):13-20	Mutation analysis of SLC7A9 in cystinuria patients in Sweden.		104614	19613	2	2003	We conclude that  SLC3A1 is still the major disease gene among Swedish cystinuria patients, with only a minor contribution of SLC7A9 mutations as the genetic basis of cystinuria. The absence of SLC3A1 and SLC7A9 mutations in a substantial proportion of the patients implies that mutations in parts of the genes that were not analyzed may be present, as well as large deletions that escape detection by the methods used. However, our results raise the question of whether other, as yet unknown genes, may also be involved in cystinuria.	Cohort 16 patients of 53 previously reported showing SLC7A9 mutations and/or either lacked or showed heterozygosity for SLC3A1 mutations 										
141799		cystinuria	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Font-Llitjos, M.  et al. 2005	15635077				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2			CDC GDPinfo	6519	Hs.112916			Journal of medical genetics. 2005 Jan;42(1):58-68	New insights into cystinuria: 40 new mutations,genotype-phenotype correlation, and digenic inheritance causing partial phenotype.		104614	19615	2	2005	 Digenic inheritance is an exception (two of 164 families), with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria. Further mutational analysis could focus on one of the two genes (SLC3A1 preferentially for type I and SLC7A9 for type non-I probands), while for mixed probands analysis of both genes might be required, with priority given to SLC7A9.	Cohort 164 probands from the International Cystinuria Consortium 										
141800	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	21	21q22.3	SLC19A1	45759056	45786779		Dervieux, T.  et al. 2004	15564880				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.84190			Pharmacogenetics. 2004 Nov;14(11):733-9	Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis.		600424	13758	2	2004	These data demonstrate that polymorphisms in SLC19A1 and GGH affect polyglutamation of MTX.	Cohort patients with rheumatoid arthritis treated with weekly low-dose methotrexate (MTX) 	methotrexate									
141801		homocysteine	METABOLIC	MET	Thrombosis	21	21q22.3	SLC19A1	45759056	45786779		Yates, Z.  et al. 2005	15964598				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.84190			Life sciences. 2005 Oct;77(22):2735-42	G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism.		600424	19470	2	2005												
141802		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Shen, M.  et al. 2005	15922487				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Chinese		CDC GDPinfo	6573	Hs.84190			Lung cancer (Amsterdam, Netherlands). 2005 Sep;49(3):299-309	Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.		600424	25539	2	2005	In summary, three genetic variants in folate metabolism genes are associated with an increased risk of lung cancer in Xuan Wei, China.	Control:122 matched controls;Case:122 incident primary lung cancer cases Xuan Wei, China										
141803		omphalocele	DEVELOPMENTAL	DEV	Hernia, Umbilical	21	21q22.3	SLC19A1	45759056	45786779		Mills, J. L.  et al. 2005	15937947				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1		New York	CDC GDPinfo	6573	Hs.84190			American journal of medical genetics Part A. 2005 Jul;136(1):11-Aug	Folate-related genes and omphalocele.		600424	25540	2	2005	In this small study, the thermolabile variant of MTHFR, 677C --> T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required.	Case:25 children with euploid omphalocele;Control:59 matched controls										
141805		drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	21	21q22.3	SLC19A1	45759056	45786779		de Jonge, R.  et al. 2005	15797993				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.84190			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		600424	27617	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
141806	Y	two major non-ribosomal nucleolar proteins and its implication	OTHER	OTH	Muscular Atrophy, Spinal	5	15q13	SMN1	69381105	69410105		Lefebvre S et al. 2002	11978761				survival of motor neuron 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			KGB	6606	Hs.535788			Human molecular genetics. 2002 May;11(9):1017-27	A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.		600354	5570	1	2002												
141808		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	5	15q13	SMN1	69381105	69410105		Corcia, P.  et al. 2002	11835381				survival of motor neuron 1, telomeric				CDC GDPinfo	6606	Hs.535788			Annals of neurology. 2002 Feb;51(2):243-6	Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.		600354	19623	2	2002	An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.	Case:167 amyotrophic lateral sclerosis patients;Control:167 matched controls										
141809		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Muscular Atrophy, Spinal|Genetic Predisposition to Disease	5	15q13	SMN1	69381105	69410105		Lee, T. M.  et al. 2004	15608400				survival of motor neuron 1, telomeric		Korean	Korea	CDC GDPinfo	6606	Hs.535788			Journal of Korean medical science. 2004 Dec;19(6):870-3	Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR		600354	19624	2	2004	These data indicated that there would be no much difference in disease prevalence of SMA compared with western countries. Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.	Cohort 13/326 patients with spinal muscular atrophy (n=13) and healthy normal individuals (n=326) Korea 										
141810		Spinal Muscular Atrophy	NEUROLOGICAL	NEUR	Spinal Muscular Atrophies of Childhood	5	15q13	SMN1	69381105	69410105		Lai, A. H.  et al. 2005	15726222				survival of motor neuron 1, telomeric			Singapore	CDC GDPinfo	6606	Hs.535788			Annals of the Academy of Medicine, Singapore. 2005 Jan;34(1):73-7	SMN1 deletions among singaporean patients with spinal muscular atrophy.		600354	19625	2	2005	 Molecular studies can replace conventional investigations for SMA and have made the option of prenatal diagnosis possible for couples at risk.	Cohort 24 patients with all types of spinal muscular atrophy 										
141811		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Muscular Atrophy, Spinal|Disease Progression|Genetic Predisposition to Disease|Nerve Degeneration	5	15q13	SMN1	69381105	69410105		Veldink, J. H.  et al. 2005	16093455				survival of motor neuron 1, telomeric				CDC GDPinfo	6606	Hs.535788			Neurology. 2005 Sep;65(6):820-5	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.		600354	19626	2	2005	 SMN genotypes producing less SMN protein increase susceptibility to and severity of ALS.											
141812		Spinal Muscular Atrophy	NEUROLOGICAL	NEUR		5	15q13	SMN1	69381105	69410105		Chen, W.  et al. 2005	16331551				survival of motor neuron 1, telomeric				CDC GDPinfo	6606	Hs.535788			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):559-602	[Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.]		600354	19627	2	2005	 SMN1 copy number could be detected precisely by real-time fluorescence quantitative PCR; the screening of gene carriers could provide essential data for genetic counseling.											
141813		spinal muscular atrophy	NEUROLOGICAL	NEUR	Muscular Atrophy, Spinal	5	5q13	SMN2	69381105	69410105		Singh NN 2004	14766219	an inhibitory mutation at position 6 in exon 7 (C6U) that causes exon 7 exclusion.			Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			KGB	6607	Hs.202179			Biochemical and biophysical research communications. 2004 Mar;315(2):381-8	An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.		601627	7546	1	2004												
141814		Spinal Muscular Atrophy	NEUROLOGICAL	NEUR	Spinal Muscular Atrophies of Childhood	5	5q13	SMN2	69381105	69410105		Mailman, M. D.  et al. 2002	11839954				Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			CDC GDPinfo	6607	Hs.202179			Genetics in medicine. 2002 Jan-Feb;4(1):20-6	Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2		601627	19628	2	2002	 SMN1 molecular testing is essential for the diagnosis of SMA and allows for accurate carrier testing. Screening for intragenic mutations in SMN1 increases the sensitivity of diagnostic testing. Finally, SMN2 copy number is conclusively shown to ameliorate the phenotype and provide valuable prognostic information.	Cohort 610 patients with spinal muscular atrophy 1995-2001 										
141815		amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	5	5q13	SMN2	69381105	69410105		Corcia, P.  et al. 2002	11835381				Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			CDC GDPinfo	6607	Hs.202179			Annals of neurology. 2002 Feb;51(2):243-6	Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.		601627	23509	2	2002	An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.	Case:167 amyotrophic lateral sclerosis patients;Control:167 matched controls										
141817	Y	atherosclerosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Arteriosclerosis	17	17p11.2	SREBF1	17656110	17681050		Vedie, B.  et al. 2001	11257259			promoter	Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Atherosclerosis. 2001 Feb;154(3):589-97	A new DNA polymorphism in the 5' untranslated region of the human SREBP-1a is related to development of atherosclerosis in high cardiovascular risk population.		184756	14082	2	2001	Thus, we have identified a new polymorphism in the 5' untranslated region of the SREBP-1a gene, and demonstrated its association with an atherogenic lipid profile and echographic plaques.	Cohort 812 men at high cardiovascular risk 										
141818		atherosclerosis, coronary; lipids	CARDIOVASCULAR	CARD	Coronary Artery Disease|Disease Progression	17	17p11.2	SREBF1	17656110	17681050		Salek, L.  et al. 2002	12436350				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Journal of molecular medicine (Berlin, Germany). 2002 Nov;80(11):737-44	Effects of SREBF-1a and SCAP polymorphisms on plasma levels of lipids, severity, progression and regression of coronary atherosclerosis and response to therapy with fluvastatin		184756	14083	2	2002	No genotype-treatment interaction for progression or regression of coronary atherosclerosis was detected. There were no significant interactions between SCAP genotypes and response to therapy. Thus we detected a strong graded interaction between SREBF-1a -36del/G genotypes and response of plasma apoA-I to treatment with fluvastatin.	Cohort 372 subjects from the Lipoprotein Coronary Atherosclerosis Study population 	fluvastatin									
141819	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Hyperlipidemias|Obesity	17	17p11.2	SREBF1	17656110	17681050		Eberle, D.  et al. 2004	15277400				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1	French	France	CDC GDPinfo	6720	Hs.592123			Diabetes. 2004 Aug;53(8):2153-7	SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts		184756	14085	2	2004	Our results indicate a role of the SREBF-1 gene in genetic predisposition of metabolic diseases such as obesity, type 2 diabetes, and dyslipidemia.											
141820		diabetes, type 2; cholesterol, LDL; cholesterol, total; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	17	17p11.2	SREBF1	17656110	17681050		Laudes, M.  et al. 2004	14988272				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Diabetes. 2004 Mar;53(3):842-6	Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes		184756	19711	2	2004	Although the rare mutations identified were functionally silent in the assays used, we obtained some evidence, which requires conformation in other populations, that a common variant in the SREBP-1c gene might influence diabetes risk and plasma cholesterol level.	Cohort 1,100 Caucasians ;Control:47 control subjects;Case:517 Caucasian subjects with type 2 diabetes:UK;Control:517 age- and sex-matched controls;Case:85 unrelated subjects with severe insulin resistance										
141821		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	17	17p11.2	SREBF1	17656110	17681050		Laaksonen, R.  et al. 2005	16005884				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Atherosclerosis. 2006 Mar;185(1):206-209	Genetic variant of the SREBF-1 gene is significantly related to cholesterol synthesis in man.		184756	19712	2	2005												
141822		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	17	17p11.2	SREBF1	17656110	17681050		Fiegenbaum, M.  et al. 2005	16158080				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			The pharmacogenomics journal. 2005 ;5(6):359-64	Determinants of variable response to simvastatin treatment: the role of common variants of SCAP,SREBF-1a and SREBF-2 genes.		184756	19713	2	2005			simvastatin									
141823		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17p11.2	SREBF1	17656110	17681050		Rios, D.  et al. 2003	12752570				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Clinical genetics. 2003 May;63(5):380-5	Interaction between SREBP-1a and APOB polymorphisms influences total and low-density lipoprotein cholesterol levels in patients with coronary artery disease.		184756	23555	2	2003	Despite the associations with lipids, these polymorphisms were not associated with CAD risk or severity in this sample.	Control:188 healthy controls;Case:298 European descent patients with non-diabetic angiographically assessed coronary artery disease:Brazil										
141825	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	2	11p14.3-p12	ST2	102294393	102334929		Shimizu, M.  et al. 2005	16118232			promoter	suppression of tumorigenicity 2				CDC GDPinfo	6761				Human molecular genetics. 2005 Oct;14(19):2919-27	Functional SNPs in the distal promoter of the ST2 gene are associated with atopic dermatitis.		185440	19717	2	2005												
141826		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A2	28510766	28515892		Hou, M. F.  et al. 2002	12373301				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001054.2		Taiwan	CDC GDPinfo	6799	Hs.546304			International journal of molecular medicine. 2002 Nov;10(5):609-12	Sulfotransferase 1A2*2 is a risk factor for early-onset breast cancer		601292	19737	2	2002	In comparison with the frequency of healthy controls (96.0% and 4.0% for SULT1A2*1 and SULT1A2*2, respectively), the allelic frequencies of SULT1A2 polymorphisms in these patients were not statistically significant (p=0.398). However, the SULT1A2*2 allele seems to influence the age of onset among early-onset breast cancer patients (p=0.021, OR=2.74, 95%CI=1.13-6.65).	Control heatlhy controls;Case:230 Taiwanese breast cancer patients:Taiwan										
141828		cancer; colorectal cancer	CANCER	CAN		16	16p12.1	SULT1A2	28510766	28515892		Kim, K. A.  et al. 2005	16133548				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001054.2	Korean		CDC GDPinfo	6799	Hs.546304			European journal of clinical pharmacology. 2005 Nov;61(10):743-7	Genetic polymorphisms and linkage disequilibrium of sulfotransferase SULT1A1 and SULT1A2 in a Korean population: comparison of other ethnic groups.		601292	23572	2	2005												
141829		colorectal cancer	CANCER	CAN		16	16p12.1	SULT1A2	28510766	28515892		Carlini, E. J.  et al. 2001	11207031				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001054.2			CDC GDPinfo	6799	Hs.546304			Pharmacogenetics. 2001 Feb;11(1):57-68	Sulfation pharmacogenetics: SULT1A1 and SULT1A2allele frequencies in Caucasian, Chinese and African-American subjects		601292	23573	2	2001	These observations represent a step towards determining the possible functional implications for individual variations in sulfate conjugation of common genetic polymorphisms for SULT1A1 and SULT1A2.	Cohort 242/290/70 Caucasian (n=242), Chinese (n=290) and African-American (n=70) subjects 										
141830		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	16	16p12.1	SULT1A2	28510766	28515892		Sachse, C.  et al. 2002	12419832				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001054.2		England	CDC GDPinfo	6799	Hs.546304			Carcinogenesis. 2002 Nov;23(11):1839-49	A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer.		601292	28455	2	2002	This data suggests that heterocyclic amines do not play an important role in the aetiology of colorectal cancer but that exposure to other carcinogens such as polycyclic aromatic hydrocarbons may be important determinants of cancer risk.	Case:490 colorectal cancer patients;Control:593:controls										
141832	Y	Heart-Hand Syndrome, Holt-Oram Syndrome	CARDIOVASCULAR	CARD	Limb Deformities, Congenital|Heart Defects, Congenital|Syndrome	12	12q24.1	TBX5	113276117	113330630		Basson CT et al 1999	10077612			coding sequence	T-box 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000192.3			David R. Bachinsky	6910	Hs.381715			Proceedings of the National Academy of Sciences of the United States of America. 1999 Mar;96(6):2919-24	Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.		601620	7547	1	1999												
141833		Holt-Oram Syndrome	DEVELOPMENTAL	DEV	Hand Deformities, Congenital|Heart Defects, Congenital|Abnormalities, Multiple|Syndrome	12	12q24.1	TBX5	113276117	113330630		McDermott, D. A.  et al. 2005	16183809				T-box 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000192.3			CDC GDPinfo	6910	Hs.381715			Pediatric research. 2005 Nov;58(5):981-6	TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.		601620	19767	2	2005												
141835		Specific IgE	IMMUNE	IMM		14	14q11.2	TCRA	21159896	21160561		Moffatt MF 2000	9211749	VA8.1(*)2			T cell receptor alpha locus				KGB	6955	Hs.567476			Immunogenetics. 1997 ;46(3):226-30	Germline TCR-A restriction of immunoglobulin E responses to allergen.		186880	5748	1	2000	Association was also seen between Der p II IgE titres and HLA-DRB1(*)1501 alleles. Reactivity to Der p II was confined to subjects who were positive for VA8.1(*)2 and HLA-DRB1(*)1501, demonstrating germline HLA-DR and TCR-A interaction in restricting the response to exogenous antigen.											
141837	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	14	14q11.2	TRA@	21180965	21181646	n	Droogan AG et al. 1996	8857743				T cell receptor alpha locus				KGB	6955	Hs.74647			Neurology. 1996 Oct;47(4):1049-53	T-cell receptor alpha beta gamma and delta chain gene microsatellites show no association with multiple sclerosis.		186880	5750	1	1996												
141838	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	14	14q11.2	TRA@	21180965	21181646	n	Randolph LM et al. 1989	2571544				T cell receptor alpha locus				KGB	6955	Hs.74647			Gastroenterology. 1989 Nov;97(5):1115-20	Lack of an association between polymorphisms of the T-cell receptor alpha-chain and ulcerative colitis.		186880	5751	1	1989												
141840		asthma	IMMUNE	IMM	Asthma	14	14q11.2	TRA@	21180965	21181646		Soriano, J. B.  et al. 2000	11142503				T cell receptor alpha locus		Spanish	Spain	CDC GDPinfo	6955	Hs.74647			European journal of epidemiology. 2000 ;16(8):745-50	Association study of proposed candidate genes/regions in a population of Spanish asthmatics.		186880	23817	2	2000	No association could be observed in this sample of Spanish asthmatics with the genes/regions studied.	Case:146 asthmatic subjects:Barcelona, Spain;Control:50 population controls:Barcelona, Spain										
141841		B-cell chronic lymphocytic leukemia	CANCER	CAN	Leukemia, B-Cell, Chronic	7	7q34	TRB@				Rezvany MR et al. 2003	12393705				T cell receptor beta locus				KGB	6957				Blood. 2003 Feb;101(3):1063-70	Leukemia-associated monoclonal and oligoclonal TCR-BV use in patients with B-cell chronic lymphocytic leukemia.		186930	5753	1	2003												
141842		Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	7	7q34	TRB@				Kunstmann E et al. 2000	11035766				T cell receptor beta locus				KGB	6957				Infection and immunity. 2000 Nov;68(11):6493-5	The nonfunctional allele TCRBV6S1B is strongly associated with Helicobacter pylori infection.		186930	5754	1	2000												
141843	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q34	TRB@				Frank MB et al. 1990	1967259				T cell receptor beta locus				KGB	6957				The Journal of clinical investigation. 1990 Jan;85(1):33-9	Anti-Ro(SSA) autoantibodies are associated with T cell receptor beta genes in systemic lupus erythematosus patients.		186930	5755	1	1990												
141844	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q34	TRB@				de Vries N et al. 1993	8323379				T cell receptor beta locus				KGB	6957				Annals of the rheumatic diseases. 1993 May;52(5):327-31	A T cell receptor beta chain variable region polymorphism associated with radiographic progression in rheumatoid arthritis.		186930	5756	1	1993												
141845		T-cell non-Hodgkin's lymphomas	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, T-Cell	7	7q34	TRB@				Garcia MJ et al. 2001	11385314				T cell receptor beta locus				KGB	6957				Diagnostic molecular pathology. 2001 Jun;10(2):69-77	IgH TCR-gamma and TCR-beta gene rearrangement in 80 B- and T-cell non-Hodgkin's lymphomas: study of the association between proliferation and the so-called aberrant patterns.		186930	5757	1	2001												
141846		chronic lymphocytic leukaemia	CANCER	CAN	Chromosome Deletion	7	7q34	TRB@				Merup M et al. 1994	8199017				T cell receptor beta locus				KGB	6957				British journal of haematology. 1994 Feb;86(2):291-7	T-cell receptor beta gene rearrangements in leukaemic B-cells from patients with chronic lymphocytic leukaemia: association with chromosome 6 deletions.		186930	5758	1	1994												
141847	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	7	7q34	TRB@			n	Hillert J et al. 1991	1672869				T cell receptor beta locus			Sweden	KGB	6957				Journal of neuroimmunology. 1991 May;32(2):141-7	No association with germline T cell receptor beta-chain gene alleles or haplotypes in Swedish patients with multiple sclerosis.		186930	5759	1	1991												
141848	Y	cystic fibrosis.	OTHER	OTH	Cystic Fibrosis	7	7q34	TRB@				McMillan SA et al. 1989	2568490				T cell receptor beta locus				KGB	6957				Journal of medical genetics. 1989 Jul;26(7):431-3	T cell receptor beta chain polymorphisms are associated with cystic fibrosis.		186930	5760	1	1989												
141849		cirrhosis, biliary primary	UNKNOWN	UNK		7	7q34	TRB@				Dresch, C.  et al. 2002	11841483				T cell receptor beta locus				CDC GDPinfo	6957				European journal of immunogenetics. 2002 Feb;29(1):5-Nov	TCRBV3S1 and TCRBV18 gene segment polymorphisms in Brazilian Caucasoid and Black populations.		186930	14523	2	2002	The data indicated statistically significant differences in allelic frequencies for the two ethnic groups analysed, suggesting that any correlation between TCR usage or T-cell repertoire and development of a given disease should take in account the ethnic origin of the population studied.	Cohort 139 individuals not otherwise specified 										
141850		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	7	7q34	TRB@				Selmi, C.  et al. 2003	14621425				T cell receptor beta locus				CDC GDPinfo	6957				Annali italiani di medicina interna. 2003 Jul-Sep;18(3):149-53	T-cell receptor polymorphism in primary biliary cirrhosis.		186930	14524	2	2003	Our data suggest that TCR constant beta-2 polymorphism does not play a key role in modulating the multifactorial etiopathogenesis of primary biliary cirrhosis.	Control:70 healthy controls;Case:70 patients affected by primary biliary cirrhosis										
141851		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q34	TRB@				Dresch, C.  et al. 2003	14687707				T cell receptor beta locus			Brazil	CDC GDPinfo	6957				Immunology letters. 2003 Dec;90(3-Feb):77-80	Analysis of two T-cell receptor BV gene segment polymorphisms in caucasoid Brazilian patients with rheumatoid arthritis.		186930	14525	2	2003	Neither allelic frequencies nor genotypic frequencies differ among RA and healthy individuals, suggesting that there is not a direct association among the TCRBV allelic variants studied and the development of RA and thus excluding the possibility of use of these gene segment polymorphisms as RA susceptibility markers.	Control healthy individuals;Case:95 caucasoid South Brazilian rheumatoid arthritis:patients										
141852		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Lupus Erythematosus, Systemic	7	7q34	TRB@				Lawson, C. A.  et al. 2005	15708895				T cell receptor beta locus				CDC GDPinfo	6957				Annals of the rheumatic diseases. 2005 Mar;64(3):468-70	Analysis of the insertion/deletion related polymorphism within T cell antigen receptor beta variable genes in primary Sjogren's syndrome.		186930	14526	2	2005	 A reduced proportion of patients with PSS have the deleted/deleted genotype. Eighty nine per cent of PSS patients have at least one extra germline copy of BV13S2*1. This may relate to previous observations of increased BV13 specific T cells and mRNA in the salivary glands.	Control:121/42 healthy control blood samples obtained from the Blood Transfusion Service (n = 121) and patients with systemic lupus erythematosus (n = 42);Case:61 patients fulfilling the modified European criteria for primary Sjogren's syndrome										
141853		cirrhosis, biliary primary	UNKNOWN	UNK		7	7q34	TRB@				Donaldson, I. J.  et al. 2002	11862388				T cell receptor beta locus		African		CDC GDPinfo	6957				Immunogenetics. 2002 Feb;53(11-Oct):884-93	Unique TCR beta-subunit variable gene haplotypes in Africans.		186930	20018	2	2002	Overall, this study highlights large differences in the genetic constitution of the TCRB locus between Africans and other populations.	Cohort individuals from five regions in Africa, including The Gambia, Nigeria, Cameroon, Tanzania, and Zambia, and in individuals from northern Britain, northern India, and Papua New Guinea (PNG) Africa, northern Britain, northern India, Paua 										
141854	N	malaria	INFECTION	INF	Malaria	7	7q34	TRB@				Donaldson, I. J.  et al. 2002	11862389				T cell receptor beta locus		Gambian	Gambia	CDC GDPinfo	6957				Immunogenetics. 2002 Feb;53(11-Oct):894-9	Malaria is not responsible for the selection of TCR beta-subunit variable gene haplotypes in The Gambia.		186930	20019	2	2002	Therefore, the evidence suggests that malaria is not responsible for haplotype selection in The Gambia.	Case children suffering from severe malaria:Gambia;Control unaffected adult controls										
141855		H. pylori infection	INFECTION	INF	Helicobacter Infections|Peptic Ulcer|Genetic Predisposition to Disease	7	7q34	TRB@				Kunstmann, E.  et al. 2003	12635936				T cell receptor beta locus			Germany	CDC GDPinfo	6957				International journal of medical microbiology. 2003 Feb;292(8-Jul):537-40	Helicobacter pylori infection: CagA-specificantibodies are associated with clinical outcome, but not with HLA-class II polymorphisms of the host.		186930	23818	2	2003	There was no association between HLA-DRB1 alleles and the CagA status of infected individuals, although certain alleles show significant association to the infection status in different populations.	Cohort 380 unrelated German individuals 										
141857		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12q24.1	TDG	102883746	102906786		Krzesniak, M.  et al. 2004	15225156				Thymine-DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003211.3	Polish	Poland	CDC GDPinfo	6996	Hs.173824			Annals of human genetics. 2004 Jul;68(Pt 4):300-12	Polymorphisms in TDG and MGMT Genes - Epidemiological and Functional Study in Lung Cancer Patients from Poland		601423	23611	2	2004	 This work points to the importance of studying the expression-regulating elements of genes, as they may contain functional polymorphisms with the potential for modulating risk of various diseases, including cancer.	Control:controls;Case lung cancer cases										
141858		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	3	3q26	TERC	170965009	170965501		Ohtsuka, T.  et al. 2002	12174094				telomerase RNA component	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=38176147			CDC GDPinfo	7012				The British journal of dermatology. 2002 Aug;147(2):250-4	The polymorphism of telomerase RNA component gene in patients with systemic sclerosis.		602322	14199	2	2002	 These results showed the possible involvement of a telomerase abnormality in the emergence of abnormal fibroblast clones in SSc skin-derived fibroblasts.	Case:53 patients with systemic sclerosis;Control:98 normal controls										
141859	Y	anemia, aplastic	HEMATOLOGICAL	HEM	Anemia, Aplastic	3	3q26	TERC	170965009	170965501		Vulliamy, T.  et al. 2002	12090986				telomerase RNA component	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=38176147			CDC GDPinfo	7012				Lancet. 2002 Jun;359(9324):2168-70	Association between aplastic anaemia and mutations in telomerase RNA.		602322	19798	2	2002	These data indicate that, in a subset of patients with aplastic anaemia, the disorder might be associated with a genetic lesion in the telomere maintenance pathway.	Case:17/27 patients with idiopathic aplastic anaemia (n=17), and patients with constitutional aplastic anaemia:(n=27);Control:214 normal controls										
141860	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Heart Defects, Congenital	3	3q26	TERC	170965009	170965501		Benz, L. P.  et al. 2004	15329831				telomerase RNA component	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=38176147			CDC GDPinfo	7012				Birth defects research Part A, Clinical and molecular teratology. 2004 Aug;70(8):531-3	TERC is not a major gene in human neural tube defects.		602322	19799	2	2004	 Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele.	Cohort 477 neural tube defect cases 										
141861	N	Fanconi Anemia	HEMATOLOGICAL	HEM	Fanconi Anemia	3	3q26	TERC	170965009	170965501		Calado, R. T.  et al. 2004	15339688				telomerase RNA component	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=38176147			CDC GDPinfo	7012				Haematologica. 2004 Aug;89(8):1012-3	Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi s anemia		602322	19800	2	2004	We conclude that  hTERC gene mutations do not contribute to telomere shortening in FA.	Cohort 115 Fanconi's anemia patients 										
141862	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13	TFCP2	49774874	49853184		Taylor, A. E.  et al. 2001	11283204				Transcription factor CP2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005653.3			CDC GDPinfo	7024	Hs.48849			Journal of medical genetics. 2001 Apr;38(4):232-3	Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease.		189889	14200	2	2001	 Our data support LBP-1c/CP2/LSF as a candidate gene/risk factor for AD and provide justification for future studies to investigate the role of this gene in Alzheimer's disease.	Case:216 necropsy confirmed AD cases;Control:301 non-demented controls aged > 73 years										
141863		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13	TFCP2	49774874	49853184		Luedecking-Zimmer, E.  et al. 2003	12555245				Transcription factor CP2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005653.3			CDC GDPinfo	7024	Hs.48849			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):114-7	Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.		189889	26618	2	2003	Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD.	Control:523:controls;Case:564 Alzheimer's disease cases										
141864	Y	Graves disease	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Graves Disease|Thyroiditis, Autoimmune	3	3p24.3	THRB	24134708	24511457		Tassi V et al. 1995	8748133				thyroid hormone receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000461.3		Italy	KGB	7068	Hs.187861			Journal of molecular endocrinology. 1995 Dec;15(3):267-72	A thyroid hormone receptor beta gene polymorphism associated with Graves' disease.		190160	5884	1	1995												
141865	Y	ADHD	PSYCH	PSY	Mental Retardation|Attention Deficit Disorder with Hyperactivity	3	3p24.3	THRB	24134708	24511457		Weiss RE et al. 1994	8200958				thyroid hormone receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000461.3			KGB	7068	Hs.187861			The Journal of clinical endocrinology and metabolism. 1994 Jun;78(6):1525-8	Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.		190160	5885	1	1994												
141866	Y	resistance to thyroid hormone	OTHER	OTH	Hyperthyroidism|Thyrotoxicosis|Thyroid Hormone Resistance Syndrome	3	3p24.3	THRB	24134708	24511457		Menzaghi C et al. 1999	10037068				thyroid hormone receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000461.3		Italy	KGB	7068	Hs.187861			Thyroid. 1999 Jan;9(1):6-Jan	Association between an R338L mutation in the thyroid hormone receptor-beta gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone.		190160	5886	1	1999												
141867	Y	hormone disturbance	METABOLIC	MET		3	3p24.3	THRB	24134708	24511457		Peeters, R. P.  et al. 2003	12788902				Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000461.3			CDC GDPinfo	7068	Hs.187861			The Journal of clinical endocrinology and metabolism. 2003 Jun;88(6):2880-8	Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects.		190160	14254	2	2003	We have analyzed eight SNPs in five thyroid hormone pathway genes and found significant associations of three SNPs in two genes (D1, TSHR) with plasma TSH or iodothyronine levels in a normal population.	Cohort 156 healthy blood donors 										
141868		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.3-q23	THY1	118794097	118799064		Aparicio JM 2004	1982251				Thy-1 cell surface antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006288.2	Japanese	Japan	Y Wang	7070	Hs.643513			Disease markers. 1990 Sep-Oct;8(5):283-94	Non-HLA genetic factors and insulin dependent diabetes mellitus in the Japanese: TCRA, TCRB and TCRG, INS, THY1, CD3D and ETS1		188230	7548	1	2004	These results were compared to findings in Caucasians and some differences were noted. The polymorphism observed in this study may be useful in genetic studies on immunologically affected populations.											
141870		smoking behavior	CHEMDEPENDENCY	CHEM	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TNXA				Fust, G.  et al. 2004	15339882				tenascin XA pseudogene			Hungary|Iceland	CDC GDPinfo	7146				International immunology. 2004 Oct;16(10):1507-14	Genetic basis of tobacco smoking: strongassociation of a specific major histocompatibility complex haplotype on chromosome 6 with smoking behavior		600261	23774	2	2004	Considering the documented link between olfactory stimuli and smoking in females, and the presence of a cluster of odorant receptor genes close to the MHC class I region, our findings implicate a potential role of the MHC-linked olfactory receptor genes in the initiation of smoking.	Control:101 healthy subjects;Case:232 coronary artery disease (CAD) patients with defined tobacco smoking habits:Hungary:Cohort:351 Icelandic subjects										
141871	Y	nemaline myopathy	OTHER	OTH	Myopathies, Nemaline	1	1q21.2	TPM3	152394403	152431233		Wattanasirichaigoon, D.  et al. 2002	12196661				Tropomyosin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152263			CDC GDPinfo	7170	Hs.129512			Neurology. 2002 Aug;59(4):613-7	Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy		191030	19991	2	2002	A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation that is predicted to prevent inclusion of skeletal muscle exon IX. TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. The severity of cases with TPM3 mutations may vary from severe infantile to late childhood onset, slowly progressive forms.	Cohort 40 unrelated patients with nemaline myopathy 										
141872		diabetes, maternally inherited	METABOLIC	MET	Hearing Loss, Sensorineural|Neuromuscular Diseases|Diabetes Mellitus|Mitochondrial Diseases	17	17p13.1	TRL2				Choo-Kang, A. T.  et al. 2002	12086967				tRNA leucine 2				CDC GDPinfo	7208				Diabetes. 2002 Jul;51(7):2317-20	Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.		189920	20024	2	2002	We conclude, therefore, that screening for mtDNA mutations should be considered in patients with maternally inherited diabetes, but only when additional features of mitochondrial disease are present.	Cohort 28 patients withd maternally inherited diabetes either alone (group 1, n = 17) or with one or more additional features of mitochondrial disease, including bilateral sensori-neural deafness and neuromuscular disease (group 2, n = 11). 										
141873		bipolar disorder	PSYCH	PSY	Bipolar Disorder	14	14q11.1	TRP1				Kato, T.  et al. 2001	11223103				tRNA proline 1				CDC GDPinfo	7217				Journal of affective disorders. 2001 Feb;62(3):151-64	Mitochondrial DNA polymorphisms in bipolar disorder		189930	14531	2	2001	The 5178C/10398A haplotype in mtDNA may be a risk factor of bipolar disorder (odds ratio, 2.4). Pathophysiological significance of rare mtDNA mutations needs to be verified in the future. This finding may imply the pathophysiological significance of mtDNA in bipolar disorder.	Case:135 bipolar patients;Control:187 unspecified controls										
141874		childhood B-cell precursor acute lymphoblastic leukemia	CANCER	CAN	Recurrence	18	18p11.32	TYMS	647650	663492		Lauten M et al. 2003	12651279				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			KGB	7298	Hs.592338			Haematologica. 2003 Mar;88(3):353-4	Thymidylate synthase gene polymorphism and its association with relapse in childhood B-cell precursor acute lymphoblastic leukemia.		188350	7559	1	2003												
141875	N	homocysteine concentrations	METABOLIC	MET		18	18p11.32	TYMS	647650	663492		Brown KS 2004	14586640	3R3R			Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	healthy caucasian		KGB	7298	Hs.592338			Human genetics. 2004 Jan;114(2):182-5	The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.		188350	7560	1	2004	Our findings indicate that the TYMS 3R3R genotype is not a determinant of homocysteine in this sample of healthy young Caucasian adults from Northern Ireland.	Cohort 392 randomly selected healthy young Northwestern European men and women Northern Ireland										
141876		breast cancer	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Marsh, S.  et al. 2000	11102983				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	African		CDC GDPinfo	7298	Hs.592338			Human mutation. 2000 Dec;16(6):528	Novel thymidylate synthase enhancer region alleles in African populations		188350	14543	2	2000	The novel alleles identified in this study decrease in frequency with Western migration, while the common alleles are relatively stable	Cohort 640 African (African American, Ghanaian and Kenyan) and Caucasian (UK, USA) subjects. Africa, US, UK 										
141878		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Marsh, S.  et al. 2001	11445856			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			International journal of oncology. 2001 Aug;19(2):383-6	Polymorphism in the thymidylate synthase promoter enhancer region in colorectal cancer		188350	14545	2	2001	This is consistent with previous studies where higher TS expression was associated with poor response to TS inhibitors. Prospective analysis of the influence of the TS polymorphism on patient outcome is warranted.	Cohort 24 patients with colorectal cancer receiving a bolus/infusion 5-fluorouracil (5FU) regimen for metastatic colorectal cancer 	5-flurouracil									
141879		leukemia, acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute	18	18p11.32	TYMS	647650	663492		Krajinovic, M.  et al. 2002	11937185				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Lancet. 2002 Mar;359(9311):1033-4	Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia.		188350	14546	2	2002	Genotyping of thymidylate synthase might make it possible to individualise treatment for patients with acute lymphoblastic leukaemia.											
141881	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Park, D. J.  et al. 2002	12018454				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			International journal of colorectal disease. 2002 Jan;17(1):46-9	Thymidylate synthase gene polymorphism predicts response to capecitabine in advanced colorectal cancer.		188350	14549	2	2002	Our data suggest that genotyping patients for the thymidylate synthase polymorphism would be useful in identifying patients who are more likely to respond to capecitabine treatment for advanced colorectal cancer.	Cohort 24 patients with metastatic colorectal cancer 	capecitabine									
141882		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyps|Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Ulrich, C. M.  et al. 2002	12067974			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer research. 2002 Jun;62(12):3361-4	Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas.		188350	14550	2	2002	These findings raise questions regarding the molecular pathways linking folate metabolism and colorectal carcinogenesis, including whether high folate is beneficial in the presence of all metabolic genotypes.	Case:510 cases of adenomatous polyps;Control:604 polyp-free controls	folate									
141883	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Ishida, Y.  et al. 2002	12530000				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Anticancer research. 2002 Sep-Oct;22(5):2805-9	Association of thymidylate synthase gene polymorphism with its mRNA and protein expression and with prognosis in gastric cancer.		188350	14551	2	2002	These results warrant further large-scale clinical study of the role of the TS genotyping for the prediction of efficacy using 5-FU-based chemotherapy and prognosis in gastric cancer.	Cohort 115 gastric cancer patients 	5-flurouracil									
141884		colorectal cancer	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Mandola, M. V.  et al. 2003	12782596				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer research. 2003 Jun;63(11):2898-904	A novel single nucleotide polymorphism within the 5' tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity.		188350	14552	2	2003	Based on our findings, this novel single nucleotide polymorphism should be considered when the 5' tandem repeat polymorphism is being used as a predictor of clinical outcome to TS inhibitors.	Cohort non-Hispanic whites, Hispanic whites, African Americans, and Singapore Chinese 										
141885		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Chen, J.  et al. 2003	14578129			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer epidemiology, biomarkers & prevention. 2003 Oct;12(10):958-62	Polymorphism in the thymidylate synthase promoter enhancer region modifies the risk and survival of colorectal cancer.		188350	14553	2	2003	We conclude that  the TS promoter polymorphism may modify both the risk and the survival of CRC; however, these effects do not appear to be mediated through its modulation of biological folate levels.	Case:270 incident colorectal cancer cases;Control:454 control subjects										
141886		neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	18	18p11.32	TYMS	647650	663492		Volcik, K. A.  et al. 2003	14745930				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Birth defects research Part A, Clinical and molecular teratology. 2003 Nov;67(11):924-8	Associations between polymorphisms within the thymidylate synthase gene and spina bifida.		188350	14555	2	2003	 This study is the first to evaluate how TS polymorphisms contribute to the risk of SB. The current findings indicate that polymorphisms in the untranslated regions of the TS gene are associated with 4-fold or more increased risks of SB in non-Hispanic whites, but not in Hispanic whites, African-Americans, or Asian-Americans.	Control randomly selected, nonmalformed control infants;Case infants with spina bifida										
141887		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Wilding, C. S.  et al. 2004	15259039				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Caucasian	Great Britain	CDC GDPinfo	7298	Hs.592338			Birth defects research Part A, Clinical and molecular teratology. 2004 Jul;70(7):483-5	Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom.		188350	14558	2	2004	 TYMS polymorphism appears to be not universally associated with NTD risk across Caucasian samples. The elevated risk of spina bifida in U.S. samples appears to be driven by an unusually low risk allele (2x 28 bp) frequency in control samples. Family based (TDT) testing of U.S. samples is therefore advocated.	Control unaffected controls (mothers and infants) and US:controls;Case NTDs (mothers, fathers, and cases)										
141888		esophageal cancer; gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Zhang, J.  et al. 2004	15284183				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		China	CDC GDPinfo	7298	Hs.592338			Carcinogenesis. 2004 Dec;25(12):2479-85	Association of the thymidylate synthase polymorphisms with esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma		188350	14559	2	2004	The results suggested that the TS polymorphisms and ESCC and GCA polymorphisms might be associated with the susceptibility to ESCC and GCA, and the 2R/3G genotype might be a candidate marker to predict the potential of lymphatic metastasis in ESCC.	Control;Case:465 cancer patients (232 esophageal squamous cell carcinoma, 233 gastric cardiac adenocarcinoma)										
141889		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Lecomte, T.  et al. 2004	15355920				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Clinical cancer research. 2004 Sep;10(17):5880-8	Thymidylate Synthase Gene Polymorphism Predicts Toxicity in Colorectal Cancer Patients Receiving 5-Fluorouracil-based Chemotherapy		188350	14560	2	2004	 This study demonstrated that TYMS genotyping could be of help in predicting toxicity to 5-FU-based chemotherapy. TYMS genotyping might make it possible to individualize treatment for patients with colorectal cancer.	Cohort 90 patients with colorectal cancer who were treated with adjuvant or palliative 5-FU-based chemotherapy 	5-flurouracil									
141890		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Graziano, F.  et al. 2004	15386366				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		Italy	CDC GDPinfo	7298	Hs.592338			International journal of cancer. Journal international du cancer. 2004 Dec;112(6):1010-4	Association of thymidylate synthase polymorphisms with gastric cancer susceptibility.		188350	14561	2	2004	Polymorphisms in the TS gene may contribute to gastric cancer susceptibility and this finding deserve further investigation in the context of novel strategies for gastric cancer prevention. In vitro, 3G genotypes have been related to high TS mRNA expression, which may underlie one of the possible etiologic mechanisms.	Case:134 Italian gastric cancer patients;Control:139:controls										
141891		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	18	18p11.32	TYMS	647650	663492		Marcuello, E.  et al. 2004	15386371				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			International journal of cancer. Journal international du cancer. 2004 Dec;112(5):733-7	Single nucleotide polymorphism in the 5' tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients.		188350	14562	2	2004	TS genotype was an independent predictor of progression-free and overall survival in the Cox regression models after adjustment to the other clinical variables. The selection of patients who are likely to respond to 5-FU therapy may be considerably improved if the TS genotype were to include both the VNTR and the SNP located within the promoter region of the gene.	Cohort 89 patients diagnosed with metastatic colorectal cancer and undergoing 5-FU-based chemotherapy 	fluorouracil									
141892		colorectal cancer	CANCER	CAN	Colonic Neoplasms	18	18p11.32	TYMS	647650	663492		Mauritz, R.  et al. 2004	15571263				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Nucleosides, nucleotides & nucleic acids. 2004 Oct;23(9-Aug):1381-4	Polymorphism of the thymidylate synthase gene and thymidylate synthase levels in colon cancer cell lines and different tissues of colorectal cancer patients.		188350	14565	2	2004	TS genotyping of different tissues from 78 colorectal cancer patients revealed a high level of homology in polymorphic status between normal and malignant tissues and the heterozygous genotype to be the most frequent.	Cohort 78 colorectal cancer patients 										
141893	Y	lung cancer	CANCER	CAN	Lung Neoplasms	18	18p11.32	TYMS	647650	663492		Shi, Q.  et al. 2004	15579479				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Carcinogenesis. 2005 Mar;26(3):649-56	Case-control analysis of thymidylate synthase polymorphisms and risk of lung cancer.		188350	14566	2	2004	In conclusion, the polymorphisms of TYMS are likely to contribute to the risk of lung cancer in non-Hispanic whites and interact with dietary factors in lung cancer development.	Case:1,055 non-Hispanic white lung cancer patients;Control:1,140 non-Hispanic white cancer-free controls	alcohol smoking (tobacco)									
141895		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Chen, J.  et al. 2004	15598787			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2247-50	Polymorphism in the thymidylate synthase promoter enhancer region and risk of colorectal adenomas.		188350	14568	2	2004	These findings lend additional support that one-carbon metabolism is an important process in pathogenesis of colorectal cancer.	Case:373 incident colorectal adenoma cases;Control:720:controls	alcohol									
141896	Y	esophageal cancer; stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Folic Acid Deficiency	18	18p11.32	TYMS	647650	663492		Tan, W.  et al. 2005	15817609			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		China	CDC GDPinfo	7298	Hs.592338			Carcinogenesis. 2005 Aug;26(8):1430-5	Significant increase in risk of gastroesophageal cancer is associated with interaction between promoter polymorphisms in thymidylate synthase and serum folate status.		188350	14571	2	2005	These results suggest an important role for folate deficiency and impaired TS activity in the etiology of ESCC and GCA.	Case:324/231 patients with esophageal squamous cell carcinoma (n=324) and patients with gastric cardia:adenocarcinoma (n=231);Control:492:controls	folate									
141897		stomach cancer	CANCER	CAN	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Kawakami, K.  et al. 2005	15897576				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Clinical cancer research. 2005 May;11(10):3778-83	Prognostic role of thymidylate synthase polymorphisms in gastric cancer patients treated with surgery and adjuvant chemotherapy.		188350	14572	2	2005	 The prognostic role of TS polymorphisms in gastric cancer deserves further investigation because the adverse effect of high TS expression genotypes may be a relevant information to improve adjuvant chemotherapeutic strategies.	Cohort 90 gastric cancer cases identified among 187 patients previously enrolled in prospective case-control studies for disease susceptibility 	5-flurouracil radical surgery									
141898	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Zhang, Z.  et al. 2005	15930032				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Chinese	China	CDC GDPinfo	7298	Hs.592338			Carcinogenesis. 2005 Oct;26(10):1764-9	Polymorphisms of thymidylate synthase in the 5'- and 3'-untranslated regions associated with risk of gastric cancer in South China: a case-controlanalysis.		188350	14573	2	2005	In conclusion, the TYMS polymorphisms, especially the TS3'UTR polymorphism, are associated with GC risk, especially the noncardiac gastric cancer, and the TSER 2R and TS3'UTR 6bp alleles might jointly play a role in the etiology of GC in the Southern Chinese population. Larger studies are warranted to verify these findings.	Control:326 controls, frequency-matched by age, sex, and residential areas in a Southern Chinese population;Case:337 gastric cancer cases southern China	smoking (tobacco) tea									
141900		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis|Neoplasm Recurrence, Local	18	18p11.32	TYMS	647650	663492		Hitre, E.  et al. 2005	16141798				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Pharmacogenetics and genomics. 2005 Oct;15(10):723-30	Influence of thymidylate synthase gene polymorphisms on the survival of colorectal cancer patients receiving adjuvant 5-fluorouracil.		188350	14580	2	2005			5-flurouracil									
141901		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Recurrence, Local	18	18p11.32	TYMS	647650	663492		Morganti, M.  et al. 2005	16182121			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Eur J Cancer. 2005 Sep;41(14):2176-83	Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers.		188350	14581	2	2005												
141902	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis	18	18p11.32	TYMS	647650	663492		Cui, Y. J.  et al. 2005	16188144				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2005 Aug;27(8):475-7	[Association of thymidylate synthase polymorphism with esophageal squamous-cell carcinoma.]		188350	14582	2	2005	 The genotyping of TS 5'UTR and 3'UTR polymorphisms might be used as a stratification maker for predicting susceptibility to ESCC. The TS 5'UTR 2R/3R genotype might be a candidate molecular marker to predict the potential of lymphatic metastases in ESCC.											
141903		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Lymphatic Metastasis	18	18p11.32	TYMS	647650	663492		Dong, Z. M.  et al. 2005	16219137				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Ai zheng. 2005 Oct;24(10):1225-9	[Polymorphisms of thymidylate synthase gene and correlation of its protein expression to lymph node metastasis of esophageal squamous cell carcinoma.]		188350	14583	2	2005	 TS 5'-UTR tandem repeat and G/C SNP genotype, but not TS expression, might be a candidate molecular marker to predict lymph node metastasis of ESCC.											
141904		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms	18	18p11.32	TYMS	647650	663492		Liao, Z.  et al. 2005	16242255				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			International journal of radiation oncology, biology, physics. 2006 Mar;64(3):700-8	Polymorphism at the 3'-UTR of the thymidylate synthase gene: A potential predictor for outcomesin Caucasian patients with esophageal adenocarcinoma treated with preoperative chemoradiation.		188350	14585	2	2005												
141905		osteonecrosis	METABOLIC	MET	Leukemia, Lymphocytic, Acute|Osteonecrosis|Joint Diseases	18	18p11.32	TYMS	647650	663492		Relling, M. V.  et al. 2004	15459215	enhancer repeat		other	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Journal of clinical oncology. 2004 Oct;22(19):3930-6	Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia.		188350	20048	2	2004	 Because folate-related and vitamin D-receptor genetic variants have been associated with bone and vasculature morbidity, these pharmacogenetic associations likely reflect the interaction of antileukemic medications with germline sensitivity to drug actions, and might identify ALL patients at highest risk to develop osteonecrosis.	Cohort 64 children with acute lymphoblastic leukemia 	methotrexate									
141907		neural tube defects; Dihydropyrimidine dehydrogenase	DEVELOPMENTAL	DEV	Neoplasms	18	18p11.32	TYMS	647650	663492			16328315				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Turkish		CDC GDPinfo	7298	Hs.592338			European journal of clinical pharmacology. 2005 Dec;61(12):881-5	TYMS and DPYD polymorphisms in a Turkish population		188350	23831	2	2005	 The frequency of the TSER*3 allele among members of the Turkish population was similar to frequencies observed in other Caucasian populations but was lower than those found in Japanese and Chinese populations.											
141908		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Recurrence	18	18p11.32	TYMS	647650	663492		Rocha, J. C.  et al. 2005	15713801				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Blood. 2005 Jun;105(12):4752-8	Pharmacogenetics of outcome in children with acute lymphoblastic leukemia.		188350	23832	2	2005	Polymorphisms interact to influence antileukemic outcome, and represent determinants of response that can be used to optimize therapy.	Cohort 246 children, 116 treated on the lower-risk (LR) and 130 on the higher-risk (HR) arms of a St. Jude protocol 	chemotherapy									
141909		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492			16317430				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			British journal of cancer. 2006 Jan;94(2):281-6	Polymorphisms of glutathione S-transferases (GST) and thymidylate synthase (TS) - novel predictors for response and survival in gastric cancer patients		188350	23833	2	2005												
141911		esophageal cancer; stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Gao, C. M.  et al. 2004	15244514				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		China	CDC GDPinfo	7298	Hs.592338			Asian Pacific journal of cancer prevention. 2004 Apr-Jun;5(2):133-8	Polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase genes and the susceptibility to esophageal and stomach cancer with smoking.		188350	23835	2	2004	The present results suggest that TS polymorphism may modify the risk of esophageal and stomach cancer with smoking, pointing to the necessity for further investigations with information on folate and methionine intake with a larger population.	Case:155/138 stomach cancer (n=155) and esophageal cancer:(n=138) cases;Control:223:controls	smoking (tobacco)									
141912		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Grieu, F.  et al. 2004	15510613				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Anticancer research. 2004 Sep-Oct;24(5B):3215-9	Methylenetetrahydrofolate reductase and thymidylate synthase polymorphisms are not associated with breast cancer risk or phenotype.		188350	23836	2	2004	 The common MTHFR C677T and TS enhancer region polymorphisms were not risk factors for breast cancer in this patient cohort nor were they associated with phenotypic features or with prognosis.	Control;Case:339 women with breast cancer										
141913	Y	folate; homocystinuria	METABOLIC	MET		18	18p11.32	TYMS	647650	663492		Kealey, C.  et al. 2005	15682292				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Human genetics. 2005 Apr;116(5):347-53	A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations.		188350	23837	2	2005	Our findings suggest that the TYMS 3'UTR del/del genotype is a significant determinant of elevated RBC folate concentration in a non-smoking population of northwestern European adults and that this genotype confers protection against diseases for which a low folate/high homocysteine phenotype appears to be an etiologic component.	Cohort non-smoking individuals of northwestern Europe 										
141914		antineoplastic toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Neoplasm Metastasis|Disease Progression	18	18p11.32	TYMS	647650	663492		Jakobsen, A.  et al. 2005	15735113				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Journal of clinical oncology. 2005 Mar;23(7):1365-9	Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in normal tissue as predictors of fluorouracil sensitivity.		188350	23838	2	2005	 The analysis of gene polymorphism allows delineation of a group of patients (30%) with a response rate to a single drug of approximately 50%. This information should be used in the design of tailored treatment.	Cohort 51 colorectal cancer patients patients with measureable metastases Cohort 88 patients with colorectal cancer 	fluorouracil leucovorin									
141915		homocysteine	METABOLIC	MET	Abortion, Habitual	18	18p11.32	TYMS	647650	663492		Kim, N. K.  et al. 2005	15985285				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Korean		CDC GDPinfo	7298	Hs.592338			Thrombosis research Supplement. 2005	Influence of combined methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) polymorphisms to plasma homocysteine levels in Korean patients with recurrent spontaneous abortion.		188350	23839	2	2005	 Although there was no significant difference found among combined genotypes, 3R3R showed elevated homocysteine levels in MTHFR 677TT and 1298AA in Korean patients with unexplained recurrent spontaneous abortion. Thus TSER polymorphism may be a genetic determinant of plasma homocysteine level in Korean patients as well as MTHFR C677T polymorphism.											
141917		esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Wang, L. D.  et al. 2005	16045580				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Chinese	China	CDC GDPinfo	7298	Hs.592338			Diseases of the esophagus. 2005 ;18(3):177-84	Association of methylenetetrahydrofolate reductase and thymidylate synthase promoter polymorphisms with genetic susceptibility to esophageal and cardia cancer in a Chinese high-risk population.		188350	23841	2	2005												
141918		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Wang, L.  et al. 2005	16234002				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Clinical gastroenterology and hepatology. 2005 Aug;3(8):743-51	Genetic polymorphisms in methylenetetrahydrofolate reductase and thymidylate synthase and risk of pancreatic cancer.		188350	23842	2	2005	 The MTHFR and TS polymorphisms are genetic determinants for developing pancreatic cancer.		alcohol smoking (tobacco)									
141919	Y	neural tube defects	DEVELOPMENTAL	DEV		18	18p11.32	TYMS	647650	663492		Trinh, B. N.  et al. 2002	12215845				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Human genetics. 2002 Sep;111(3):299-302	Thymidylate synthase: a novel genetic determinantof plasma homocysteine and folate levels.		188350	23843	2	2002	Our results suggest that TYMS and MTHFR compete for limiting supplies of folate required for the remethylation of homocysteine. These genetic determinants of plasma folate and homocysteine levels may be useful in identifying individuals at increased risk for cardiovascular disease.	Cohort 505 Chinese individuals Singapore 										
141921		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Matsuo, K.  et al. 2005	16051637				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		Japan	CDC GDPinfo	7298	Hs.592338			Carcinogenesis. 2005 Dec;26(12):2164-71	One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan.		188350	25743	2	2005			alcohol folate									
141922		esophageal cancer	CANCER	CAN	Neoplasms, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Sarbia, M.  et al. 2005	16333305				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			British journal of cancer. 2006 Jan;94(2):203-7	The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma		188350	25744	2	2005			5-flurouracil									
141923		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	18	18p11.32	TYMS	647650	663492		Dervieux, T.  et al. 2004	15457444				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Arthritis and rheumatism. 2004 Sep;50(9):2766-74	Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis.		188350	25745	2	2004	 These data suggest that measuring RBC MTXPG levels and/or the common polymorphisms in the folate-purine-pyrimidine pathway may help in monitoring MTX therapy.	Cohort patients with rheumatoid arthritis 	methotrexate									
141924		methotrexate efficacy	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	18	18p11.32	TYMS	647650	663492		Dervieux, T.  et al. 2005	15677700				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Annals of the rheumatic diseases. 2005 Aug;64(8):1180-5	Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate:results of a multicentred cross sectional observational study.		188350	25746	2	2005	 Pharmacogenetic and metabolite measurements may be useful in optimising MTX treatment. Prospective studies are warranted to investigate the predictive value of these markers for MTX efficacy.											
141925		colon cancer	CANCER	CAN	Adenoma|Colonic Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Ulrich, C. M.  et al. 2005	16284371				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2509-16	Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer.		188350	26731	2	2005			diet									
141926		leukemia, adult acute lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Skibola, C. F.  et al. 2002	11986237				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Blood. 2002 May;99(10):3786-91	Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.		188350	26732	2	2002	This study suggests an important role for uracil misincorporation and resultant chromosomal damage in the pathogenesis of ALL, and that genetic interactions involving low penetrance polymorphisms in folate-metabolizing genes may increase ALL risk.											
141927		lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	18	18p11.32	TYMS	647650	663492		Skibola, C. F.  et al. 2004	15198953				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Blood. 2004 Oct;104(7):2155-62	Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma.		188350	27319	2	2004	The associations of DLCL and FL with TYMS 1494del6 and MTHFR 677TT genotypes, respectively, suggest that folate metabolism may play an important role in the pathogenesis of specific subtypes of NHL.	Control:controls;Case non-Hodgkin lymphoma cases San Francisco Bay Area, US:1988 - 1995										
141928		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	18	18p11.32	TYMS	647650	663492			16365025				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2999-3003	Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes		188350	27320	2	2005												
141929		hyperhomocysteinemia	METABOLIC	MET	Hyperhomocysteinemia|Folic Acid Deficiency|Vitamin B 12 Deficiency	18	18p11.32	TYMS	647650	663492		Geisel, J.  et al. 2003	14656021				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Clinical chemistry and laboratory medicine. 2003 Nov;41(11):1427-34	The role of genetic factors in the development of hyperhomocysteinemia.		188350	27321	2	2003	In conclusion, the study on vegetarians and seniors documents interesting lifestyle-genotype interactions. Although the TC and COMT mutations influence cellular vitamin B12 metabolism, this effect did not result in overt homocysteine elevation.	Cohort 111/118 										
141930		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Disease Progression	18	18p11.32	TYMS	647650	663492		Stoehlmacher, J.  et al. 2004	15213713				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			British journal of cancer. 2004 Jul;91(2):344-54	A multivariate analysis of genomic polymorphisms:prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.		188350	27662	2	2004	These findings require independent prospective confirmation.	Cohort 106 colorectal cancer patients with refractory stage IV disease who received 5-FU/oxaliplatin combination chemotherapy 	5-flurouracil oxaliplatin									
141932		Angelman syndrome	OTHER	OTH	Angelman Syndrome	15		UBE3A	23133488	23235221		Rapakko K 2004	15054837				Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130838.1	Finnish	Finland	KGB	7337	Hs.22543			American journal of medical genetics Part A. 2004 Apr;126(3):248-52	UBE3A gene mutations in Finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis.		601623	7562	1	2004												
141933	Y	schizophrenia	PSYCH	PSY		22	22q11.21	UFD1L	17817700	17846726	p=0.03	De Luca A 2001	11496370	-277A/G. located within the noncoding region upstream the first exon of the UFD1L gene		5`promoter	Ubiquitin fusion degradation 1 like (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005659.5			KGB	7353	Hs.474213			American journal of medical genetics. 2001 Aug;105(6):529-33			601754	7563	1	2001	The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome.											
141934		liver toxicity	OTHER	OTH		2	2q37	UGT1A@				Acuna, G.  et al. 2002	12439739				UDP glycosyltransferase 1 family, polypeptide A cluster				CDC GDPinfo	7361				The pharmacogenomics journal. 2002 ;2(5):327-34	Pharmacogenetic analysis of adverse drug effect reveals genetic variant for susceptibility to liver toxicity.		191740	20080	2	2002	SNPs located within the UDP-glucuronosyl transferase 1A gene complex, which codes for the enzymes involved in the main elimination pathway of the drug, were found to be significantly associated with the occurrence of tolcapone-associated ELTs.	Case:135 Parkinson's disease patients demonstrating ELT while being treated with tolcapone;Control:274 Parkinson's disease pateints who showed no signs of ELT while treated with tolcapone	tolcapone									
141935		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyps|Colonic Neoplasms	2	2q37	UGT1A@				Bigler, J.  et al. 2001	11325819				UDP glycosyltransferase 1 family, polypeptide A cluster				CDC GDPinfo	7361				Cancer research. 2001 May;61(9):3566-9	CYP2C9 and UGT1A6 genotypes modulate the protective effect of aspirin on colon adenoma risk.		191740	23861	2	2001	the effectiveness of chemopreventive drugs can be modulated by the genotype of metabolizing enzymes.	Case:474 adenoma cases;Control:563:controls										
141936		mamographic density	OTHER	OTH	Breast Neoplasms|Atherosclerosis	2	2q37	UGT1A@				Lord, S. J.  et al. 2005	15987428				UDP glycosyltransferase 1 family, polypeptide A cluster				CDC GDPinfo	7361				Breast cancer research. 2005 ;7(3):R336-44	Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.		191740	26736	2	2005	 Although based on small numbers, these findings suggest that the magnitude of the increase in mammographic density in women using combined estrogen and progestin therapy may be greater in those with genetically determined lower activity of enzymes that metabolize estrogen and progesterone.											
141937		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	2	2q37	UGT1A@				Zhou, Q.  et al. 2005	15801936				UDP glycosyltransferase 1 family, polypeptide A cluster				CDC GDPinfo	7361				British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		191740	27665	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
141938	Y	suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17p13.3	YWHAE	1194592	1250267		Yanagi, M.  et al. 2005	15838597				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006761.3	Japanese	Japan	CDC GDPinfo	7531	Hs.513851			Journal of human genetics. 2005 ;50(4):210-6	Association of 14-3-3 epsilon gene haplotype with completed suicide in Japanese.		605066	20212	2	2005	This finding suggests that 14-3-3 epsilon is a potential suicide susceptibility gene and implies that dysregulation of neurogenesis may be involved in suicide.	Case completed suicide cases:Japan;Control:controls										
141939		myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	3	3q21	ZNF9	130371121	130385389		Vallo, L.  et al. 2005	15652222				Zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF680546	Italian	Italy	CDC GDPinfo	7555	Hs.518249			Molecular and cellular probes. 2005 Feb;19(1):71-4	Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population		116955	14850	2	2005	Our results show that this polymorphism is in linkage disequilibrium with the DM2 mutation.	Case:30 unrelated myotonic dystrophy type 2 patients:Italy;Control:70 unrelated Italian healthy inidividuals										
141941	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4		TS13				Tsuji, T.  et al. 2003	14506161			promoter	Temperature sensitivity complementation, ts13		Japanese		CDC GDPinfo	7896				Clinical cancer research. 2003 Sep;9(10 Pt 1):3700-4	Polymorphism in the thymidylate synthase promoter enhancer region is not an efficacious marker for tumor sensitivity to 5-fluorouracil-based oral adjuvant chemotherapy in colorectal cancer.		187320	14534	2	2003	In conclusion, TSER genotype is not an efficacious marker for tumor sensitivity to 5-FU-based oral adjuvant chemotherapy for Japanese colorectal cancer patients after curative resection.	Cohort 135 Japanese patients who received curative resection and 5-FU-based oral adjuvant chemotherapy 	5-flurouracil									
141943		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	4		TS13				Gao, C. M.  et al. 2003	12975018				Temperature sensitivity complementation, ts13			China	CDC GDPinfo	7896				Zhonghua liu xing bing xue za zhi. 2003 Jul;24(7):599-603	[Interactions between lifestyle, methylanetetrahydrofolate reductase gene and polymorphisms in thymidylate synthase gene with risk of stomach cancer]		187320	23819	2	2003	 Results in the present study suggested that there was a combined effect between lifestyle, MTHFR C/T or T/T genotype and TS -6 bp/-6 bp genotype in the development of SC.	Case:107 stomach cancer cases Huaian city of Jiangsu province, China;Control:200 population-based controls	alcohol smoking (tobacco) tea									
141944		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q21	ST8SIA4	100170802	100266869		Arai, M.  et al. 2005	16229822				ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005668.3			CDC GDPinfo	7903	Hs.308628			Biological psychiatry. 2005	Association Between Polymorphisms in the Promoter Region of the Sialyltransferase 8B (SIAT8B) Gene and Schizophrenia.		602547	23560	2	2005	 The present study suggests that functional promoter SNPs of SIAT8B could confer a risk for schizophrenia in the Japanese population.											
141946	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Walter, M.  et al. 2003	12750767				major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Germany	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2003 May;46(5):712-20	IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity.		604305	17627	2	2003	Combining IDDM1 and IDDM2 genotyping identifies a minority of children with an increased T1D risk.	Case:488/1,122 type 1 diabetic patients (n=488) and offspring of parents with type 1 diabetes (n=1,122);Control:846 control subjects										
141947		breast cancer	CANCER	CAN		14	14q24.3-q31.1	CERD4	72145494	72430594		Hoyal, C. R.  et al. 2005	16109180				D4, zinc and double PHD fingers, family 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK024141			CDC GDPinfo	8110	Hs.162868			Journal of carcinogenesis [electronic resource]. 2005 Aug;4:13	Genetic polymorphisms in DPF3 associated with risk of breast cancer and lymph node metastases.		601672	9364	2	2005	 Polymorphisms in the 5' region of DPF3 were associated with increased risk of breast cancer development, lymph node metastases, age of onset, and tumor size in women of European ancestry. This large-scale association study suggests that genetic variation in DPF3 contributes to breast cancer susceptibility and severity.											
141948	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Miao, X.  et al. 2004	15087379				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDPinfo	6790	Hs.250822			Cancer research. 2004 Apr;64(8):2680-3	Functional STK15 Phe31Ile polymorphism is associated with the occurrence and advanced disease status of esophageal squamous cell carcinoma.		603072	8850	2	2004	Our results demonstrate for the first time that the STK15 polymorphism is a genetic susceptibility factor for the occurrence and aggression of ESCC.	Case:656 patients with esophageal squamouse cell carcinoma;Control:656:controls										
141949		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Egan, K. M.  et al. 2004	15271853				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDPinfo	6790	Hs.250822			Carcinogenesis. 2004 Nov;25(11):2149-53	STK15 polymorphism and breast cancer risk in a population-based study.		603072	8851	2	2004	These results suggest that STK15 may represent a low penetrance type breast cancer susceptibility gene.	Control:830 age-matched population controls;Case:941 incident breast cancer cases										
141951		breast cancer	CANCER	CAN	Breast Neoplasms|Body Weight	20	20q13.2-q13.3	AURKA	54377851	54400758		Dai, Q.  et al. 2004	15598762				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1		China	CDC GDPinfo	6790	Hs.250822			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2065-70	Synergistic effects of STK15 gene polymorphisms and endogenous estrogen exposure in the risk of breast cancer.		603072	8853	2	2004	The findings from this study are consistent with the evidence from invitro and in vivo experiments, implicating an etiologic role of the STK15 gene in human breast cancer, and provide evidence for the modifying effects of genetic background on human cancer risk.	Case:1,102 Chinese incident breast cancer cases;Control:1,186 community controls										
141952	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease|Genomic Instability	20	20q13.2-q13.3	AURKA	54377851	54400758		Lo, Y. L.  et al. 2005	15688402				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDPinfo	6790	Hs.250822			International journal of cancer. Journal international du cancer. 2005 Jun;115(2):276-83	Breast cancer risk associated with genotypic polymorphism of the mitosis-regulating gene Aurora-A/STK15/BTAK.		603072	8854	2	2005	Our study provides new findings supporting the mutator role of Aurora-A in breast cancer development, suggesting that breast cancer could be driven by genomic instability associated with variant Aurora-A, the tumorigenic contribution of which could be enhanced as a result of increased mitosis due to estrogen exposure.	Control:1,972 healthy controls;Case:709 primary breast cancer cases	estrogen									
141953	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Chromosome Aberrations|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Kimura, M. T.  et al. 2005	15867347				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDPinfo	6790	Hs.250822			Cancer research. 2005 May;65(9):3548-54	Two functional coding single nucleotide polymorphisms in STK15 (Aurora-A) coordinately increase esophageal cancer risk		603072	8855	2	2005	These results indicate that the less kinase active Aurora-A haplotype combinations might induce genomic instability and increase esophageal cancer risk either in a recessive or a dominant manner.	Control:146:controls;Case:197 esophageal cancer cases										
141954		esophageal cancer	CANCER	CAN		20	20q13.2-q13.3	AURKA	54377851	54400758		Chen, L.  et al. 2005	16011022				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1	Chinese		CDC GDPinfo	6790	Hs.250822			Yi chuan xue bao. 2005 Apr;32(4):331-6	Linkage disequilibrium and haplotype analysis of two single nucleotide polymorphisms in STK15 in Chinese.		603072	8856	2	2005												
141955	Y	azoospermia	REPRODUCTION	REP		7	7q11.23	FKBP6	72078127	72410570		Zhang, W.  et al. 2005	15696470				FK506 binding protein 6, 36kDa		Chinese		CDC GDPinfo	8468	Hs.567253			Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):3-Oct	[Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia]		604839	10712	2	2005	 278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.	Case:177 Chinese azoospermia patients;Control:231 control individuals										
141956		azoospermia	REPRODUCTION	REP	Azoospermia	7	7q11.23	FKBP6	72078127	72410570		Westerveld, G. H.  et al. 2005	16227348				FK506 binding protein 6, 36kDa				CDC GDPinfo	8468	Hs.567253			Molecular human reproduction. 2005 Sep;11(9):673-5	Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.		604839	16707	2	2005												
141957	N	cardiovascular disease; atherosclerosis	CARDIOVASCULAR	CARD		10	10q22.2-q22.3	MBL1P1	81654633	81700765		Aittoniemi, J.  et al. 2004	15458704				mannose-binding lectin (protein A) 1, pseudogene 1				CDC GDPinfo	8512	Hs.102310			International journal of cardiology. 2004 Nov;97(2):317-8	The effect of mannan-binding lectin variant alleles on coronary artery reactivity in healthy young men.			12316	2	2004	This finding suggests that MBL deficiency is not an independent risk factor for coronary dysfunction and early atherogenic changes but rather a co-factor in the development of atherosclerosis. Thus, the connection of MBL variant alleles with environmental risk factors in atherosclerosis should further be assessed.	Cohort 51 apparently healthy, normo- or mildly hypercholesterolemic young men 										
141958	N	hepatitis B	INFECTION	INF	Hepatitis B|Hepatitis|Disease Progression|Fibrosis	10	10q22.2-q22.3	MBL1P1	81654633	81700765		Cheong, J. Y.  et al. 2005	15716605				mannose-binding lectin (protein A) 1, pseudogene 1		Korean	Korea	CDC GDPinfo	8512	Hs.102310			Journal of Korean medical science. 2005 Feb;20(1):65-9	Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population.			12317	2	2005	MBL gene polymorphism at codon 54 was not associated with the clearance of hepatitis B virus infection nor progression of disease in chronic hepatitis B virus infection.	Control HBsAg negative controls;Case patients with hepatitis B virus infection:Korea										
141960	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	13q14	TSC22	43905660	44048701	n	Sugawara F et al. 2001	11688842				TSC22 domain family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183422			KGB	8848	Hs.507916			Internal medicine (Tokyo, Japan). 2001 Oct;40(10):993-7	Human TSC-22 gene: no association with type 2 diabetes.		607715	6599	1	2001	 It is unlikely that the TSC-22 gene is a locus responsible for type 2 diabetes.											
141961	Y	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	13	13q14	TSC22	43905660	44048701		Sugawara, F.  et al. 2003	12757981				transforming growth factor beta 1 induced transcript 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183422			CDC GDPinfo	8848	HS.448735			Diabetes research and clinical practice. 2003 Jun;60(3):191-7	The role of the TSC-22 (-396) A/G variant in the development of diabetic nephropathy		607715	20029	2	2003	These findings suggest that the TSC-22 gene (-396) A allele is associated with an increasing risk of the diabetic nephropathy.	Cohort 498 Japanese subjects with type 2 diabetes 										
141962	Y	neural tube defects	DEVELOPMENTAL	DEV	Meningomyelocele|Genetic Predisposition to Disease	15	15q21.3	ALDH1A2	56032918	56145198		Deak, K. L.  et al. 2005	16237707				Aldehyde dehydrogenase 1 family, member A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003888.2			CDC GDPinfo	8854	Hs.643455			Birth defects research Part A, Clinical and molecular teratology. 2005 Nov;73(11):868-75	Analysis of ALDH1A2, CYP26A1, CYP26B1, CRABP1, and CRABP2 in human neural tube defects suggests a possible association with alleles in ALDH1A2.		603687	8616	2	2005	 These results may suggest that polymorphisms in ALDH1A2 may influence the risk for lumbosacral myelomeningocele in humans.											
141963		Paget's disease of bone	OTHER	OTH	Osteitis Deformans	5	5q35	SQSTM1	179166929	179197683		Falchetti, A.  et al. 2004	15125799				Sequestosome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003900.3	Italian		CDC GDPinfo	8878	Hs.437277			Journal of bone and mineral research. 2004 Jun;19(6):1013-7	Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).		601530	19699	2	2004	 Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder.	Cohort 62 Italian sporadic Paget's Disease of Bone patients Italy 										
141964	N	Paget's disease	OTHER	OTH	Osteitis Deformans|Genetic Predisposition to Disease	5	5q35	SQSTM1	179166929	179197683		Beyens, G.  et al. 2004	15164150				Sequestosome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003900.3		Belgium	CDC GDPinfo	8878	Hs.437277			Calcified tissue international. 2004 Aug;75(2):144-52	Evaluation of the Role of the SQSTM1 Gene in Sporadic Belgian Patients with Paget's Disease		601530	19700	2	2004	In conclusion, our study confirms that the P392L mutation is a recurrent mutation causing PDB in different populations. We were not able to show an association between SQSTM1 polymorphisms and PDB in our population but this clearly needs to be extended to other populations. The presented identification of haplotype Tag SNPs will be of major help for such studies.	Case:111 Paget's disease patients:Belgium;Control:159 control individuals										
141965	Y	ataxia (SCA)	NEUROLOGICAL	NEUR	Huntington Disease|Machado-Joseph Disease|Spinocerebellar Degenerations	17	17q21.3	ERDA1				Lee, Y.  et al. 2002	12007862				expanded repeat domain, CAG/CTG 1				CDC GDPinfo	9030				Journal of biotechnology. 2002 May;95(3):215-23	A simple method for the detection of neurologic disorders associated with CAG repeat expansion using PCR-microtiter plate hybridization.		603279	16535	2	2002	This report is the first to demonstrate that a PCR-MPH system can be successfully applied to DNA size differentiation in addition to base pair mismatches. Also, our design of the probe is unique in that the probe motif stem from the unrelated gene sequence and not from the synthetic oligonucleotides.	Case:10/10 individuals with SCA3 (n=10) and individuals with Huntington disease (n=10);Control:30 normal controls										
141967		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5q23.1-q23.3	SNCAIP	121675718	121827693		Bandopadhyay, R.  et al. 2001	11427316				Synuclein, alpha interacting protein (synphilin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005460.2			CDC GDPinfo	9627	Hs.426463			Neuroscience letters. 2001 Jul;307(2):125-7	No pathogenic mutations in the synphilin-1 gene in Parkinson's disease.		603779	19644	2	2001	We analysed the intron 2 polymorphism for allelic association as it was conducive to rapid screening but observed no changes in frequency between Parkinson's disease cases and controls.	Control:131 matched on age and sex, brain tissue with no abnormal histology Newcastle General Hospital, Newcastle, UK;Case:145 Parkinson's disease cases										
141968	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5q23.1-q23.3	SNCAIP	121675718	121827693		Satoh, J. I.  et al. 2002	11784370				Synuclein, alpha interacting protein (synphilin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005460.2	Japanese	Japan	CDC GDPinfo	9627	Hs.426463			European journal of neurology. 2002 Jan;9(1):15-8	A putative polymorphic Val44Ala variation in the synphilin-1 gene is undetectable in Japanese sporadic Parkinson's disease patients.		603779	19645	2	2002	All 116 subjects showed a homozygosity of Val at codon 44 in the synphilin-1 gene, suggesting that this SNP is unlikely to affect genetic susceptibility to sporadic PD in the Japanese population.	Case:55 Japanese patients with sporadic Parkinson's disease;Control:61 Japanese patients with non-Parkinson's disease										
141969	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5q23.1-q23.3	SNCAIP	121675718	121827693		Maraganore, D. M.  et al. 2003	14639662				Synuclein, alpha interacting protein (synphilin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005460.2			CDC GDPinfo	9627	Hs.426463			Movement disorders. 2003 Nov;18(11):1233-9	Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.		603779	19646	2	2003	Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the alpha-synuclein gene (SNCA) or the parkin (PARK2) gene.	Control:195:controls;Case:319 Parkinsons's disease cases										
141970	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	14	14q24.3	RGS6	71469585	72100407		Berman, D. M.  et al. 2004	15375002				Regulator of G-protein signalling 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004296.3			CDC GDPinfo	9628	Hs.509872			Cancer research. 2004 Sep;64(18):6820-6	A functional polymorphism in RGS6 modulates the risk of bladder cancer.		603894	23339	2	2004	These data provide the first evidence that RGS proteins may be important modulators of cancer risk and validate RGS6 as a target for further study.	Control:466 matched controls;Case:477 bladder cancer patients										
141971	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	capon	158771221	159069902		Zheng, Y.  et al. 2005	15707951				Nitric oxide synthase 1 (neuronal) adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB007975	Chinese	China	CDC GDPinfo	9722	Hs.129729			Biochemical and biophysical research communications. 2005 Mar;328(4):809-15	Association of the carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase gene with schizophrenia in the Chinese Han population.		605551	15566	2	2005	Our findings indicate that CAPON gene may be a candidate susceptibility gene for schizophrenia in Chinese Han population, and also provide further support for the potential importance of NMDAR-mediated glutamatergic transmission in the etiology of schizophrenia.	Case:664 Chinese Han schizophrenic cases;Control:941:controls										
141972	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	capon	158771221	159069902		Puri, V.  et al. 2005	16202394				Nitric oxide synthase 1 (neuronal) adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB007975			CDC GDPinfo	9722	Hs.129729			Biological psychiatry. 2006 Jan;59(2):195-7	Failure to Confirm Allelic Association Between Markers at the CAPON Gene Locus and Schizophrenia in a British Sample.		605551	15567	2	2005	 The negative results might reflect genetic heterogeneity between the Canadian, Chinese and UK samples or be due to methodological problems. The present finding weakens the evidence that mutations or variation in the CAPON gene are causing genetic susceptibility to schizophrenia in European populations.											
141973	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM		4	4q31.21	SPAR				Xie, J.  et al. 2005	15696492				surfactant protein A binding protein		Chinese		CDC GDPinfo	9981				Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):91-3	[Surfactant protein A gene polymorphisms in chronic obstructive pulmonary disease]			14054	2	2005	 Genetic polymorphism in SPA is associated with the development of COPD in the Chinese Hans.	Control:87 healthy smoking subjects;Case:88 Chinese Han patients with chronic obstructive pulmonary disease										
141975		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	11	11q13	IL18BP	71387605	71392447		Tiret, L.  et al. 2005	16043644				Interleukin 18 binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173042.2			CDC GDPinfo	10068	Hs.591967			Circulation. 2005 Aug;112(5):643-50	Genetic analysis of the interleukin-18 system highlights the role of the interleukin-18 gene in cardiovascular disease.		604113	22479	2	2005	 Variations of the IL18 gene consistently influence circulating levels of IL-18 and clinical outcome in patients with coronary artery disease, which supports the hypothesis of a causal role of IL-18 in atherosclerosis and its complications.											
141976	Y	nonfamilial idiopathic dilated cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	10		NEBL	21110093	21503122		Arimura T et al. 2000	11140941				Nebulette	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006393.1		Japan	KGB	10529	Hs.5025			Human genetics. 2000 Nov;107(5):440-51	Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.		605491	6921	1	2000												
141977		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	1	1CEN-q21	PSORS4				Alenius, G. M.  et al. 2004	15517637				psoriasis susceptibility 4				CDC GDPinfo	10547				The Journal of rheumatology. 2004 Nov;31(11):2230-5	Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis.		603935	23308	2	2004	 We identified an association between psoriatic arthritis and one of the microsatellite markers within the TNFB locus at the HLA region on chromosome 6. Linkage disequilibrium between TNFB123 and certain HLA-B antigens was found.	Case:120 patients with psoriasis and defined joint disease:Sweden;Control:94 controls with the same ethnic background as the patients from the same region as the cases										
141978	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	10	10q23.3-q24.1	SORBS1	97061519	97311161		Lin WH et al. 2001	11532984				Sorbin and SH3 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001034954.1			KGB	10580	Hs.38621			Human molecular genetics. 2001 Aug;10(17):1753-60	Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.		605264	6922	1	2001												
141979	N	premature pubarche	DEVELOPMENTAL	DEV	Hirsutism|Puberty, Precocious|Hyperandrogenism	10	10q23.3-q24.1	SORBS1	97061519	97311161		Witchel SF 2003	12849814	T228A			Sorbin and SH3 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001034954.1			KGB	10580	Hs.38621			Fertility and sterility. 2003 Jul;80(1):128-32	Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism.		605264	6923	1	2003	This SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in our patient population.	Control:50 healthy nondiabetic controls;Case:79/56 children referred for the evaluation of premature pubarche (n = 79) and adolescent girls with:hyperandrogenism (n = 56)										
141980	N	hyperandrogenism; precocious puberty	DEVELOPMENTAL	DEV	Hirsutism|Puberty, Precocious|Hyperandrogenism	10	10q23.3-q24.1	SORBS1	97061519	97311161		Witchel, S. F.  et al. 2003	12849814	T228A			Sorbin and SH3 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001034954.1			CDC GDPinfo	10580	Hs.38621			Fertility and sterility. 2003 Jul;80(1):128-32	Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism.		605264	14053	2	2003	This SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in our patient population.	Control:50 healthy nondiabetic controls;Case:79/56 children referred for the evaluation of premature pubarche (n = 79) and adolescent girls with:hyperandrogenism (n = 56)										
141981		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	10	10q23.3-q24.1	SH3D5	97061519	97187302		Lin, W. H.  et al. 2001	11532984				sorbin and SH3 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001034954			CDC GDPinfo	10580	Hs.38621			Human molecular genetics. 2001 Aug;10(17):1753-60	Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positiveassociation of the T228A polymorphism with obesity and type 2 diabetes.		605264	19442	2	2001	our results suggest that the A228 allele of the T228A polymorphism of the SORBS1 gene is a protective factor for both obesity and diabetes, and also imply that the SORBS1 gene plays an important role in the pathogenesis of human disorders with insulin resistance.	Case:113 obese subjects;Control:202 non-boese subjects;Case:455 subjects with type 2 diabetes										
141982		obesity	METABOLIC	MET	Obesity	10	10q23.3-q24.1	SORBS1	97061519	97311161		Nieters, A.  et al. 2002	12395215				Sorbin and SH3 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001034954.1			CDC GDPinfo	10580	Hs.38621			European journal of nutrition. 2002 Oct;41(5):210-21	Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort		605264	26594	2	2002	 The results support some but not all previous reports about a risk-modulating effect of polymorphisms in genes affecting obesity risk. The most important finding is an indication of substantial interaction between allelic variants of particular genes and fatty acid intake-related obesity risk. These observations suggest that future studies on polymorphisms in obesity genes should take data on dietary habits into account.	Case:154 subjects with a body mass index > 35 kg/m(2);Control:154 age- and sex-matched normal-weight controls	diet									
141983		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	14	14q22.3	EXOC5	56738946	56805370		Hamada, D.  et al. 2005	15880602				exocyst complex component 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006544.3	Japanese	Japan	CDC GDPinfo	10640	Hs.334936			Arthritis and rheumatism. 2005 May;52(5):1371-80	Association between single-nucleotide polymorphisms in the SEC8L1 gene, which encodes a subunit of the exocyst complex, and rheumatoid arthritis in a Japanese population.		604469	21307	2	2005	 Our locus-wide association and LD analyses identified intronic SNPs and haplotypes in the SEC8L1 gene that are strongly associated with RA. We propose that SEC8L1, which encodes a component of the exocyst complex, is a candidate susceptibility gene for RA in the Japanese population.	Case:760 Japanese rheumatoid arthritis patients (157 men and 603 women);Control:806 non-rheumatoid arthritis controls (189 men and 617:women)										
141984		testicular cancer	CANCER	CAN	Testicular Neoplasms|Genetic Predisposition to Disease	17	17p11.2	RAI1	17525511	17655490		Laska, M. J.  et al. 2005	15885892				Smith-Magenis syndrome chromosome region, candidate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030665.3		Denmark	CDC GDPinfo	10743	Hs.190284			Cancer letters. 2005 Jul;225(2):245-51	Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.		607642	25485	2	2005	To our knowledge this is the first study of DNA repair gene polymorphisms and risk of testicular cancer.	Case:184 testicular cancer cases Copenhagen Greater Area in Denmark;Control:194 population-based controls										
141986		schizophrenia	PSYCH	PSY		5	5q35.2	CPLX2	175156215	175243629		Lee, H. J.  et al. 2005	16131404				Complexin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006650.3			CDC GDPinfo	10814	Hs.193235			Behavioral and brain functions [electronic resource] :  BBF. 2005 Aug;1:15	Association study of polymorphisms in synaptic vesicle-associated genes, SYN2 and CPLX2, with schizophrenia.		605033	14126	2	2005	 These results suggest that both SYN2 and CPLX2 may confer susceptibility to schizophrenia in the Korean population.											
141987		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	19	19q13.3	CD3EAP	50601306	50605864		Vogel, U.  et al. 2005	15936590				CD3E antigen, epsilon polypeptide associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012099.1	Caucasian	Denmark	CDC GDPinfo	10849	Hs.643438			Cancer detection and prevention. 2005 ;29(3):209-14	Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50.			10361	2	2005	While it cannot be ruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma.	Case:322 basal cell carcinoma cases nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion) Copenhagen and Aarhus, Denmark;Control:322 controls nested in a population-based prospective investigation encompassing 57,053 Danes (aged 50-64 at inclusion)										
141988		lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	19	19q13.4	LILRB1	59820440	59840816		Kuroki, K.  et al. 2005	16014635				Leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006669.2			CDC GDPinfo	10859	Hs.67846			Human molecular genetics. 2005 Aug;14(16):2469-80	Extensive polymorphisms of LILRB1 (ILT2, LIR1) and their association with HLA-DRB1 shared epitope negative rheumatoid arthritis.		604811	22755	2	2005												
141990		EKG, abnormal	CARDIOVASCULAR	CARD	Syncope|Heart Defects, Congenital|Death, Sudden, Cardiac|Long QT Syndrome|Heart Arrest|Genetic Predisposition to Disease	11	11p15	KCNQ1OT1	2653136	2653759		Khositseth, A.  et al. 2004	15851119				Potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL353939			CDC GDPinfo	10984	Hs.95162			Heart rhythm. 2004 May;1(1):60-4	Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.		604115	26353	2	2004	 There is a relatively gene-specific molecular basis underlying cardiac events during the postpartum period in LQTS. Along with previous gene-specific associations involving swimming and LQT1 as well as auditory triggers and LQT2, this association between postpartum cardiac events and LQT2 can facilitate strategic genotyping.	Cohort 388 unrelated patients (260 females, average age at diagnosis, 23 years, and average QTc, 482 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing 										
141991	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	20	20q13.33	DIDO1	60979534	61028300		Mochi, M.  et al. 2003	12624717				death associated transcription factor 1				CDC GDPinfo	11083	HS.438300			Neurological sciences. 2003 Feb;23(6):301-5	A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes.		604140	16396	2	2003	Our data iYdicate that MO, but Yot MA, shows sigYificaYt geYetic associatioY with DRD4.	Control:117:controls;Case:93/101 individuals with migraine with aura (n=93) and with migraine without aura (n=101)										
141992	N	epilepsy	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile|Genetic Predisposition to Disease	6	20q13.33	GRM4	34097605	34209421		Izzi, C.  et al. 2003	14582146				Death associated transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000841.1			CDC GDPinfo	2914	Hs.429018			American journal of medical genetics Part B, Neuro	Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.		254770	16488	2	2003	Our results provide no evidence that genetic variation of the GRM4 gene confers susceptibility to JME-related IGE syndromes.	Control:144 healthy population controls;Case:144 German juvenile myoclonic epilepsy probands										
141993		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	FAS	90740267	90765522		Feuk L et al. 2000	11129341				Fas (TNFRSF6) associated factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			KGB	11124	Hs.244139			Human genetics. 2000 Oct;107(4):391-6	apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.		134637	6694	1	2000												
141994	Y	acute myeloid leukemia	CANCER	CAN	Leukemia, Myeloid|Acute Disease|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Sibley K 2003	12907599			5'promoter	Fas (TNFRSF6) associated factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			KGB	11124	Hs.244139			Cancer research. 2003 Aug;63(15):4327-30	Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia.		134637	6695	1	2003												
141995		Coeliac	IMMUNE	IMM	Celiac Disease|Atrophy|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Wu J 2004	14991945				Fas (TNFRSF6) associated factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			KGB	11124	Hs.244139			World journal of gastroenterology. 2004 Mar;10(5):717-20	Association of FAS (TNFRSF6)-670 gene polymorphism with villous atrophy in coeliac disease.		134637	6696	1	2004	 FAS-G670A gene polymorphism is associated with the severity of villous atrophy in CD. Female gender is also associated with the severity of villous atrophy.											
141996		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	10	10q24.1	FAS	90740267	90765522		Kurth J 2002	12516573				Fas (TNFRSF6) associated factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			Y Wang	11124	Hs.244139			European journal of immunology. 2002 Dec;32(12):3785-92	Lack of deleterious somatic mutations in the CD95 gene of plasmablasts from systemic lupus erythematosus patients and autoantibody-producing cell lines.		134637	6697	1	2002	We conclude that  CD95 gene mutations play little if any role in the generation of the pool of PB in SLE patients and that mutations in the CD95 gene are rare among autoantibody-producing B cells in SLE and rheumatoid arthritis.											
141997	Y	chondrocalcinosis	METABOLIC	MET	Chondrocalcinosis|Genetic Predisposition to Disease	5	5p15.1	ANKH	14762018	14924876		Zhang, Y.  et al. 2005	15818664			promoter	ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			CDC GDPinfo	56172	Hs.156727			Arthritis and rheumatism. 2005 Apr;52(4):1110-7	Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate.		605145	15184	2	2005	 A subset of sporadic chondrocalcinosis appears to be heritable via a -4-bp G-to-A ANKH 5'-UTR transition that up-regulates expression of ANKH and extracellular PPi in chondrocyte cells. Distinct ANKH mutations associated with heritable chondrocalcinosis may promote disease by divergent effects on extracellular PPi and chondrocyte hypertrophy, which is likely to mediate differences in the clinical phenotypes and severity of the disease.	Control ethnically matched healthy controls;Case:128 patients with severe sporadic chondrocalcinosis or:pseudogout										
141998		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	NCSTN	158579686	158595366		Orlacchio A et al. 2002	12419494				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2		Italy	KGB	23385	Hs.517249			Neuroscience letters. 2002 Nov;333(2):115-8	Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.		605254	7054	1	2002	No evidence of association was obtained between the two SNPs investigated in sporadic and familial AD cases under the stratification of currently known genetic risk factors including the apolipoprotein E (APOE), the presenilins and the beta-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE varepsilon 4 in the risk to develop the late onset sporadic form of AD. But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD.	Cohort an Italian population										
142000	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	NCSTN	158579686	158595366		Helisalmi, S.  et al. 2004	15249634				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2	Finnish	Finland	CDC GDPinfo	23385	Hs.517249			Neurology. 2004 Jul;63(1):173-5	Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.		605254	12671	2	2004	A significant difference in one haplotype was observed in AD patients without the APOE epsilon4 allele.	Cohort a eastern Finnish population-based sample 										
142001		memory disturbance	NEUROLOGICAL	NEUR		1	1q22-q23	NCSTN	158579686	158595366		Deary, I. J.  et al. 2005	15567563				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2			CDC GDPinfo	23385	Hs.517249			Neuroscience letters. 2005 Jan;373(2):110-4	Nicastrin gene polymorphisms, cognitive ability level and cognitive ageing		605254	12672	2	2005	Therefore, the effect of Hap B in this sample is on the life-long stable trait of cognitive ability, and not on age-related cognitive change. The possibility that this result might be a selection effect was not supported by the samples being in Hardy-Weinberg equilibrium with respect to the distribution of NCSTN genotypes.	Cohort 462 relatively healthy surviving participants of the Scottish Mental Survey 1932 with no history of dementia 										
142002		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	NCSTN	158579686	158595366		Dermaut, B.  et al. 2002	11992262				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2	Dutch	Netherlands	CDC GDPinfo	23385	Hs.517249			American journal of human genetics. 2002 Jun;70(6):1568-74	The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.		605254	18536	2	2002	These results are compatible with an important role of gamma-secretase dysfunction in the etiology of familial EOAD.	Control:controls;Case:116 Dutch patients with early-onset Alzheimer's disease;Case:240 Dutch patients with late-onset Alzheimer's disease										
142003		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22-q23	NCSTN	158579686	158595366		Confaloni, A.  et al. 2003	14642438				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2			CDC GDPinfo	23385	Hs.517249			Neuroscience letters. 2003 Dec;353(1):61-5	Nicastrin gene in familial and sporadic Alzheimer's disease.		605254	18537	2	2003	We found some differences in the distribution of genotype alterations in the AD population compared to the controls. However, our data together with other evidence did not support the pathological role of missense mutation N417Y.	Case:104/174 Italian patients with familial AD (n=104, 52 early-onset and 52 late-onset), and sporadic (n=174) Alzheimer's disease;Control:191 healthy neurological controls of Italian origin										
142004	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22-q23	NCSTN	158579686	158595366		Cousin, E.  et al. 2003	14664923				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2		France	CDC GDPinfo	23385	Hs.517249			Neuroscience letters. 2003 Dec;353(2):153-5	No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease.		605254	18538	2	2003	The authors failed to replicate the association between NCSTN haplotype B and AD.	Control:386:controls;Case:489 Alzheimer's disease cases (including 158 sporadic early-onset AD cases and 95 familial early-onset AD:cases)										
142005		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	NCSTN	158579686	158595366		Orlacchio, A.  et al. 2002	12419494				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2		Italy	CDC GDPinfo	23385	Hs.517249			Neuroscience letters. 2002 Nov;333(2):115-8	Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.		605254	23098	2	2002	No evidence of association was obtained between the two SNPs investigated in sporadic and familial AD cases under the stratification of currently known genetic risk factors including the apolipoprotein E (APOE), the presenilins and the beta-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE varepsilon 4 in the risk to develop the late onset sporadic form of AD. But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD.	Cohort an Italian population 										
142007		adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis	RENAL	REN	Liver Cirrhosis|Retinitis Pigmentosa|Kidney Diseases, Cystic|Polycystic Kidney, Autosomal Recessive	3	3q22.1	NPHP3	133759674	133923966		Olbrich H 2003	12872122				nephronophthisis 3 (adolescent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153240.3			KGB	27031	Hs.511991			Nature genetics. 2003 Aug;34(4):455-9	Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.		608002	7055	1	2003	Interventional studies in the pcy mouse have shown beneficial effects by modification of protein intake and administration of methylprednisolone, suggesting therapeutic strategies for treating individuals with NPHP3.											
142008		lupus erythematosus; Sjogren's syndrome	IMMUNE	IMM		7	7q34	TRBV16				Peres, A.  et al. 2004	15086347				T cell receptor beta variable 16				CDC GDPinfo	28571				European journal of immunogenetics. 2004 Apr;31(2):77-81	T-cell receptor BV gene segment polymorphisms in healthy elderly individuals from the south of Brazil.			14527	2	2004	The data suggest that there is no direct correlation between the TCRBV3S1, TCRBV13S5 and TCRBV18 polymorphisms analysed and healthy senescence in this particular group of elderly individuals. The higher frequency of TCRBV13S6 allele 2 in healthy elderly individuals should be confirmed in other samples to establish the significance of this finding.	Cohort healthy elderly individuals 80 years old or more south of Brazil 										
142009		lupus erythematosus; Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Lupus Erythematosus, Systemic	7	7q34	TRBV16				Manavalan, S. J.  et al. 2004	14730616				T cell receptor beta variable 16				CDC GDPinfo	28571				Arthritis and rheumatism. 2004 Jan;50(1):187-98	Genomic absence of the gene encoding T cell receptor Vbeta7.2 is linked to the presence of autoantibodies in Sjogren's syndrome			20021	2	2004	 These results suggest that T cells expressing TCRs with V(beta)7.2 are protective against a pathogenic immune response in SS. Thus, genomic polymorphism of TCR genes (along with the correct HLA alleles) determines whether T cells can direct a pathogenic autoimmune response.	Control normal controls;Case patients with Sjogren's syndrome (SS) or systemic lupus erythematosus (SLE)										
142010		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	7	7q34	TRBV6-1				Forre, O.  et al. 2002	12195624				T cell receptor beta variable 6-1				CDC GDPinfo	28606				Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.			28433	2	2002	Review article											
142011	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic			IGLV8				Queiroz RG et al. 2001	11285465				immunoglobulin lambda variable 8-61				KGB	28774				Brazilian journal of medical and biological research. 2001 Apr;34(4):525-8	Association between EcoRI fragment-length polymorphism of the immunoglobulin lambda variable 8 (IGLV8) gene family with rheumatoid arthritis and systemic lupus erythematosus.			6747	1	2001												
142012	Y	haemochromatosis	OTHER	OTH	Hemochromatosis	2	2q32	SLC40A1	190133560	190156729		Arden KE 2003	12865285				solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3		Melanesia	KGB	30061	Hs.529285			Gut. 2003 Aug;52(8):1215-7	A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.		604653	6751	1	2003	 A novel missense mutation (431A>C; N144T) was identified in exon 5 of the ferroportin1 gene. A novel restriction endonuclease based assay which identifies both the N144T and N144H mutations was developed which will simplify the diagnosis and screening of patients for iron overload in the Solomon Islands and other populations. This is the first identified mutation associated with haemochromatosis in the Solomon Islands population.											
142013		C-reactive protein; ferritin; iron	IMMUNE	IMM	Anemia, Iron-Deficiency	2	2q32	SLC40A1	190133560	190156729		Kasvosve, I.  et al. 2005	16280445	Q248H			Solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3	African	Zimbabwe	CDC GDPinfo	30061	Hs.529285			The American journal of clinical nutrition. 2005 Nov;82(5):1102-6	Effect of ferroportin Q248H polymorphism on iron status in African children.		604653	13778	2	2005	 Any effect of Q248H in protecting against iron deficiency may be observable in children exposed to repeated inflammatory conditions. Further studies of iron status and ferroportin Q248H in African children are needed.											
142015		breast cancer	CANCER	CAN	Breast Neoplasms|Hemochromatosis	2	2q32	SLC40A1	190133560	190156729		Abraham, B. K.  et al. 2005	15894659				Solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3	German	Germany	CDC GDPinfo	30061	Hs.529285			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1102-7	Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancer.		604653	23442	2	2005	Our data suggest that variants of the hemochromatosis-transferrin receptor system have no direct effect on the incidence of breast cancer in Germany. Possible effects on tumor progression and prognosis remain elusive.	Case:688 breast cancer patients:Germany;Control:724 population-based and age-matched controls										
142016	Y	IgE	IMMUNE	IMM		16	16p11	IL21R	27321223	27369616		Hecker, M.  et al. 2003	12700598				Interleukin 21 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021798.2			CDC GDPinfo	50615	Hs.210546			Genes and immunity. 2003 Apr;4(3):228-33	Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females.		605383	17741	2	2003	These findings identify IL21R as a possible novel target locus influencing IgE synthesis in female individuals.	Cohort 300 healthy blood donors 										
142017	N	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	2	2p12	IGK@				Pertovaara, M.  et al. 2004	15517630				immunoglobulin kappa locus				CDC GDPinfo	50802				The Journal of rheumatology. 2004 Nov;31(11):2175-80	Immunoglobulin KM and GM gene polymorphisms modify the clinical presentation of primary Sjogren's syndrome.			22354	2	2004	 Ig KM and GM genes do not contribute to susceptibility to pSS. The Ig KM1 allele is associated with several markers of immunologically active disease, whereas the Ig GM z allele is associated with milder pSS.	Case:65 Finnish Caucasian patients with primary Sjogren's:syndrome;Control:66 healthy controls										
142018	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				Urcelay, E.  et al. 2005	15754402				inflammatory bowel disease 5				CDC GDPinfo	50941				World journal of gastroenterology. 2005 Feb;11(8):1187-92	IBD5 polymorphisms in inflammatory bowel disease:association with response to infliximab.		606348	11517	2	2005	 The IBD5 variants may enhance an individual carrier's risk for CD, mainly in the absence of the NOD2/CARD15 mutations and in fistulizing patients. The data presented suggest the potential role of the 5q31 polymorphisms as markers of response to infliximab.	Case:274/211 Crohn's (n=274) and ulcerative colitis (n=211):patients;Control:511 healthy ethnically matched controls	infliximab									
142019	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q31-q33	IBD5					16373276				inflammatory bowel disease 5		Japanese		CDC GDPinfo	50941				Scandinavian journal of gastroenterology. 2006 Jan;41(1):48-53	Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease		606348	19483	2	2006	In contrast to Caucasians, IBD5 is not a major component of the susceptibility to IBD in the Japanese population.											
142021		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Miraglia del Giudice E 2004	14724664				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Italian		KGB	51738	Hs.590080			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):447-50	Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity.		605353	7517	1	2004	 It is unlikely that ghrelin variations cause the obesity due to single-gene mutations. The Leu72Met polymorphism of the ghrelin gene seems to play a role in anticipating the onset of obesity among children suggesting, therefore, that ghrelin may be involved in the pathophysiology of human adiposity.	Control:200:controls;Case:300 Italian obese children and adolescents										
142022	Y	obesity	METABOLIC	MET	Obesity	3	3p26-p25	GHRL	10302433	10307409		Ukkola O et al. 2001	11502844				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		Sweden	KGB	51738	Hs.590080			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3996-9	Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.		605353	7518	1	2001	In conclusion, the data provide evidence that a low frequency sequence variation in the ghrelin gene could play a role in the etiology of obesity.	Control non-obese female controls (mean BMI 23.0 +/- 1.4 (kg/m(2)) of the Swedish Obese Subjects cohort:Sweden;Case:96 unrelated female subjects with severe obesity (mean body mass index (BMI) 42.3 +/- 3.4 kg/m(2)) of the Swedish Obese Subjects cohort:Swe										
142023	Y	obesity	METABOLIC	MET	Hypertension|Obesity	3	3p26-p25	GHRL	10302433	10307409		Ukkola, O.  et al. 2002	12181387				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		Quebec|Sweden	CDC GDPinfo	51738	Hs.590080			Obesity research. 2002 Aug;10(8):782-91	Role of ghrelin polymorphisms in obesity based on three different studies		605353	10819	2	2002	Arg51GlY mutatioY was associated with lower plasma ghreliY levels but Yot with obesity. The preproghreliY Met72 carrier status seems to be protective agaiYst fat accumulatioY aYd associated metabolic comorbidities.	Cohort 3004 subjects from the Quebec Family Study (QFS), the HERITAGE Family Study (HERITAGE), and the Swedish Obese Subjects (SOS) Study 										
142024		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Ukkola, O.  et al. 2003	12974878	Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDPinfo	51738	Hs.590080			Journal of internal medicine. 2003 Oct;254(4):391-4	Preproghrelin Leu72Met polymorphism in patients with type 2 diabetes mellitus.		605353	10820	2	2003	 The Leu72Met polymorphism of the preproghrelin gene was not related to cardiovascular disease in type 2 diabetes mellitus patients. Leu72Met polymorphism was, however, associated with serum creatinine and Lp(a) levels in diabetic patients. The mechanism might be associated with a possible change in ghrelin product and its somatotropic effect.	Case:258 patients with type 2 diabetes;Control:522:controls										
142025	N	obesity	METABOLIC	MET	Obesity|Body Weight	3	3p26-p25	GHRL	10302433	10307409		Vivenza, D.  et al. 2004	15248833				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDPinfo	51738	Hs.590080			European journal of endocrinology. 2004 Jul;151(1):127-33	Ghrelin gene polymorphisms and ghrelin, insulin, IGF-I, leptin and anthropometric data in children and adolescents.		605353	10821	2	2004	 Our present findings do not support the hypothesis that the ghrelin gene polymorphisms have a relevant impact in the secretion of total and acylated ghrelin.	Control:168 normal-weight healthy controls (72 young adults and 96 children);Case:81 obese or overweight children and adolescents (46										
142026	Y	lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, Large-cell, Diffuse|Obesity	3	3p26-p25	GHRL	10302433	10307409		Skibola, D. R.  et al. 2005	15894681				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		California	CDC GDPinfo	51738	Hs.590080			Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1251-6	Polymorphisms in ghrelin and neuropeptide Y genes are associated with non-Hodgkin lymphoma.		605353	10822	2	2005	These results add further support for the hypothesis that SNPs in energy-regulating genes affect risk of NHL.	Case:458 non-hodgkin lymphoma cases;Control:812:controls										
142027		metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	3	3p26-p25	GHRL	10302433	10307409		Bing, C.  et al. 2005	16108842	Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		Denmark	CDC GDPinfo	51738	Hs.590080			Diabetic medicine. 2005 Sep;22(9):1157-60	Large-scale studies of the Leu72Met polymorphism of the ghrelin gene in relation to the metabolic syndrome and associated quantitative traits.		605353	10823	2	2005	 In conclusion, the Leu72Met polymorphism of the ghrelin gene is not associated with the metabolic syndrome or related quantitative traits in the Danish population.											
142028		methamphetamine dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Yoon, S. J.  et al. 2005	16207498				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Korean	Korea	CDC GDPinfo	51738	Hs.590080			Neuroscience research. 2005 Dec;53(4):391-5	Ghrelin precursor gene polymorphism and methamphetamine dependence in the Korean population.		605353	10824	2	2005												
142029		obesity	METABOLIC	MET	Obesity	3	3p26-p25	GHRL	10302433	10307409		Ukkola, O.  et al. 2001	11502844				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		Sweden	CDC GDPinfo	51738	Hs.590080			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3996-9	Mutations in the preproghrelin/ghrelin gene associated with obesity in humans.		605353	16905	2	2001	In conclusion, the data provide evidence that a low frequency sequence variation in the ghrelin gene could play a role in the etiology of obesity.	Control non-obese female controls (mean BMI 23.0 +/- 1.4 (kg/m(2)) of the Swedish Obese Subjects cohort:Sweden;Case:96 unrelated female subjects with severe obesity (mean body mass index (BMI) 42.3 +/- 3.4 kg/m(2)) of the Swedish Obese Subjects cohort:Sweden										
142030		obesity	METABOLIC	MET	Obesity	3	3p26-p25	GHRL	10302433	10307409		Hinney, A.  et al. 2002	12050239				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDPinfo	51738	Hs.590080			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2716	Ghrelin gene: identification of missense variantsand a frameshift mutation in extremely obese children and adolescents and healthy normal weight students.		605353	16906	2	2002	In conclusion, we identified four sequence variants in the coding region of the ghrelin gene in individuals belonging to different weight extremes. A frameshift mutation was detected in a normal weight individual. None of the variants seem to influence weight regulation.	Case:215 extremely obese German Children and adolescents;Control:93 normal weight students										
142031	Y	body mass; glucose; insulin secretion	METABOLIC	MET	Obesity|Body Weight	3	3p26-p25	GHRL	10302433	10307409		Korbonits, M.  et al. 2002	12161552				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDPinfo	51738	Hs.590080			The Journal of clinical endocrinology and metabolism. 2002 Aug;87(8):4005-8	A variation in the ghrelin gene increases weight and decreases insulin secretion in tall, obese children.		605353	16907	2	2002	These data suggest that variations in the ghrelin gene contribute to obesity in children and may modulate glucose-induced insulin secretion.	Cohort 70 tall and obese children (mean age 9.4 year, Z body mass index [BMI] and Z height >3 and/or BMI percentile >99%) 										
142032	Y	diabetes, type 2; hypertension	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Poykko, S.  et al. 2003	12739020				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDPinfo	51738	Hs.590080			Diabetologia. 2003 Apr;46(4):455-8	Ghrelin Arg51Gln mutation is a risk factor for Type 2 diabetes and hypertension in a random sample of middle-aged subjects.		605353	16908	2	2003	The ghrelin 51Gln allele could increase the risk for Type 2 diabetes and hypertension. The low IGF-I concentrations in 51Gln carriers suggest that the mechanism might be associated with low GH concentrations.	Case:519 hypertensive subjects of the well-defined OPERA:study;Control:526 controls of the well-defined OPERA study										
142034	N	diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	3	3p26-p25	GHRL	10302433	10307409		Larsen, L. H.  et al. 2005	15820771				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Danish	Denmark	CDC GDPinfo	51738	Hs.590080			Clinical biochemistry. 2005 May;38(5):420-4	Mutation analysis of the preproghrelin gene: noassociation with obesity and type 2 diabetes.		605353	16910	2	2005	 Variation in the preproghrelin gene is not associated with juvenile-onset obesity, type 2 diabetes or related phenotypes among the examined Danish Caucasian subjects.	Control:233 glucose tolerant subject;Case:234 juvenile-onset obese men:Denmak;Control:323 lean men;Case:577 type 2 diabetic subjects:Denmark										
142035	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Steinle, N. I.  et al. 2005	16204371				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		United States	CDC GDPinfo	51738	Hs.590080			The Journal of clinical endocrinology and metabolism. 2005 Dec;90(12):6672-7	Variants in the ghrelin gene are associated with metabolic syndrome in the Old Order Amish.		605353	16911	2	2005	We conclude that  mutations in GHRL may confer risk for the metabolic syndrome.											
142036	Y	orolaryngeal carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Laryngeal Neoplasms	2	2q37	UGT1A10	234191029	234346690		Elahi A 2003	12910533				UDP glucuronosyltransferase 1 family, polypeptide A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			KGB	54575	Hs.554822			Cancer. 2003 Aug;98(4):872-80	Detection of UGT1A10 polymorphisms and their association with orolaryngeal carcinoma risk.		606435	6772	1	2003	 The data from the current study show that the UGT1A10 gene has several low-frequency missense polymorphisms and that the codon 139 polymorphism is an independent risk factor for orolaryngeal carcinoma in blacks.	Case orolaryngeal cancer cases;Control:controls										
142037	Y	orolaryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Laryngeal Neoplasms	2	2q37	UGT1A10	234191029	234346690		Elahi, A.  et al. 2003	12910533				UDP glycosyltransferase 1 family, polypeptide A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54575	HS.516772			Cancer. 2003 Aug;98(4):872-80	Detection of UGT1A10 polymorphisms and their association with orolaryngeal carcinoma risk.		606435	14656	2	2003	 The data from the current study show that the UGT1A10 gene has several low-frequency missense polymorphisms and that the codon 139 polymorphism is an independent risk factor for orolaryngeal carcinoma in blacks.	Case orolaryngeal cancer cases;Control:controls										
142039		colorectal cancer; drug hypersensitivity; liver cancer; bladder cancer	CANCER	CAN		2	2q37	UGT1A8	234191029	234346690			16397224				UDP glycosyltransferase 1 family, polypeptide A8				CDC GDPinfo	54576	HS.278896			Cancer research. 2006 Jan;66(1):125-33	Characterization of Common UGT1A8, UGT1A9, and UGT2B7 Variants with Different Capacities to Inactivate Mutagenic 4-Hydroxylated Metabolites of Estradiol and Estrone		606433	20124	2	2006												
142040	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	2	2q37	UGT1A8	234191029	234346690		Verlaan, M.  et al. 2004	15247627				UDP glycosyltransferase 1 family, polypeptide A8		Caucasian		CDC GDPinfo	54576	HS.278896			Pharmacogenetics. 2004 Jun;14(6):351-7	Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis.		606433	25753	2	2004	 These data suggest that genetic polymorphisms in UGT1A1, UGT1A6 and in UGT1A8 do not predispose to the development of CP in Caucasians.	Control:140 healthy controls;Case:258 Adult chronic pancreatitis patients with alcoholic (n = 153), hereditary (n = 25) or idiopathic (n =:80) origin										
142041		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A8	234191029	234346690		Ehmer, U.  et al. 2004	15057901				UDP glycosyltransferase 1 family, polypeptide A8				CDC GDPinfo	54576	HS.278896			Hepatology (Baltimore, Md). 2004 Apr;39(4):970-7	Variation of hepatic glucuronidation: Novelfunctional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.		606433	26738	2	2004	Two polymorphisms of the hepatic UGT1A4 protein show a differential metabolic activity toward mutagenic amines and endogenous steroids, altering hepatic metabolism and detoxification.	Case:128 patietns with hepatocellular carcinoma;Control:235 blood donors										
142042		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A8	234191029	234346690		Van Der Logt, E. M.  et al. 2004	15319294				UDP glycosyltransferase 1 family, polypeptide A8				CDC GDPinfo	54576	HS.278896			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		606433	28024	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
142043	Y	hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	2	2q37	UGT1A7	234191029	234346690		Vogel, A.  et al. 2001	11677206				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Gastroenterology. 2001 Nov;121(5):1136-44	Genetic link of hepatocellular carcinoma with polymorphisms of the UDP-glucuronosyltransferase UGT1A7 gene.		606432	14667	2	2001	 The significant association of hepatocellular carcinoma with the UGT1A7*3 allele encoding a low detoxification activity protein is identified and implicates UGT1A7 as a risk gene of hepatocarcinogenesis in addition to a role as potential marker for cancer risk assessment in chronic liver disease.	Case:59 patients with hepatocellular carcinoma;Control:70 control subjects without evidence of cancer										
142044		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2q37	UGT1A7	234191029	234346690		Strassburg, C. P.  et al. 2002	12010889				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Gut. 2002 Jun;50(6):851-6	Polymorphisms of the human UDP-glucuronosyltransferase (UGT) 1A7 gene in colorectal cancer		606432	14668	2	2002	 We have identified a potential novel risk factor in sporadic colorectal cancer which may contribute to the identification of risk groups and to the elucidation of factors involved in colon carcinogenesis.	Control:210 healthy blood donors;Case:78 subjects with colorectal cancer										
142045	Y	gastric cancer	CANCER	CAN	Gastrointestinal Neoplasms|Esophageal Neoplasms|Stomach Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Vogel, A.  et al. 2002	12122597				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Z Gastroenterol. 2002 Jul;40(7):497-502	Polymorphisms of the carcinogen detoxifying UDP-glucuronosyltransferase UGT1A7 in proximal digestive tract cancer.		606432	14669	2	2002	We identify the significant association of the UGT1A7*3 allele encoding a low catalytic activity protein as a risk gene in proximal digestive tract cancer and as a potential marker for cancer susceptibility.	Control:210 healthy blood donores;Case:76 patients with esophageal, orolaryngeal and gastric:cancer										
142046	Y	pancreatitis; pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Pancreatitis|Chronic Disease	2	2q37	UGT1A7	234191029	234346690		Ockenga, J.  et al. 2003	12806614				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Gastroenterology. 2003 Jun;124(7):1802-8	UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer.		606432	14670	2	2003	 The UGT1A7 gene is predominantly expressed in human pancreas. The low detoxification activity UGT1A7*3 allele is identified as a novel risk factor of pancreatic diseases defining the interaction of genetic predisposition and environmentally induced oxidative injury.	Cohort 235 healthy blood donors ;Case:52/146 northern German white patients with pancreatic adenocarcinoma (n = 52) and chronic pancreatitis (n:= 146)										
142047	Y	liver cancer	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms	2	2q37	UGT1A7	234191029	234346690		Wang, Y.  et al. 2004	15073122				UDP glycosyltransferase 1 family, polypeptide A7		Japanese	Japan	CDC GDPinfo	54577	HS.278896			Clinical cancer research. 2004 Apr;10(7):2441-6	UDP-Glucuronosyltransferase 1A7 Genetic Polymorphisms Are Associated with Hepatocellular Carcinoma in Japanese Patients with Hepatitis C Virus Infection		606432	14671	2	2004	 The UGT1A7 polymorphisms together with IL-1 beta were associated with the presence of HCC in Japanese HCV-infected patients.	Cohort 280 Japanese HCV-infected patients (122 with hepatocellular carcinoma (HCC) and 158 without HCC) 										
142048		pancreatitis, alcoholic; pancreatic cancer	CANCER	CAN		2	2q37	UGT1A7	234191029	234346690		Huang, M. J.  et al. 2005	15682470				UDP glycosyltransferase 1 family, polypeptide A7		Chinese		CDC GDPinfo	54577	HS.278896			World journal of gastroenterology. 2005 Feb;11(6):797-802	Polymorphisms of uridine-diphosphoglucuronosyltransferase 1A7 gene in Taiwan Chinese.		606432	14672	2	2005	 The results indicate that the allele frequencies of UGT1A7 gene in Taiwan Chinese are different from those in Caucasians and Japanese. Carriage of the nucleotide 211- variant UGT1A gene is highly associated with UGT1A7*3. The restriction-enzyme-digestion method for the determination of nucleotides -57 (or 33, or 622) and 387 can rapidly identify genotypes of UGT1A7 in an individual.	Cohort 112/505 healthy adults (n=112) and subjects carrying different genotypes of UGT1A1 (n=505) 										
142049	Y	colorectal cancer; drug hypersensitivity	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis|Neutropenia|Diarrhea	2	2q37	UGT1A7	234191029	234346690		Carlini, L. E.  et al. 2005	15709193				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Clinical cancer research. 2005 Feb;11(3):1226-36	UGT1A7 and UGT1A9 polymorphisms predict response and toxicity in colorectal cancer patients treated with capecitabine/irinotecan.		606432	14673	2	2005	 These data strongly suggest that UGT1A7 and/or UGT1A9 genotypes may be predictors of response and toxicity in CRC patients treated with capecitabine plus irinotecan. Specifically, patients with genotypes conferring low UGT1A7 activity and/or the UGT1A9 (dT)(9/9) genotype may be particularly likely to exhibit greater antitumor response with little toxicity.	Cohort 67 patients with measurable CRC treated with irinotecan i.v. (100 or 125 mg/m(2)) on days 1 and 8 and capecitabine orally (900 or 1,000 mg/m(2), twice daily) on days 2 through 15 of each 3-week cycle 	capecitabine Irinotecan									
142050	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Tseng, C. S.  et al. 2005	16086712				UDP glycosyltransferase 1 family, polypeptide A7			Taiwan	CDC GDPinfo	54577	HS.278896			The American journal of gastroenterology. 2005 Aug;100(8):1758-63	UDP-glucuronosyltransferase 1A7 genetic polymorphisms are associated with hepatocellular carcinoma risk and onset age.		606432	14674	2	2005	 An inverse dose-response relationship was demonstrated between the detoxifying activity of the UGT1A7 genotypes and HCC. Of the male HCC patients, median onset age for those carrying an UGT1A7 low-activity genotype was 9 yr lower than those bearing the high-activity variant.											
142051		lung cancer	CANCER	CAN	Lung Neoplasms	2	2q37	UGT1A7	234191029	234346690		Araki, J.  et al. 2005	16143514				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Eur J Cancer. 2005 Oct;41(15):2360-5	Polymorphism of UDP-glucuronosyltransferase 1A7 gene: a possible new risk factor for lung cancer.		606432	14675	2	2005												
142053		pancreatitis, alcoholic; pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Diseases|Pancreatitis|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Verlaan, M.  et al. 2005	16199544				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Journal of medical genetics. 2005 Oct;42(10):e62	Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases.		606432	14677	2	2005	 The data suggest that, in contrast to earlier studies, UGT1A7 polymorphisms do not predispose patients to the development of pancreatic cancer and pancreatitis.											
142054		colorectal cancer	CANCER	CAN	Colonic Neoplasms	2	2q37	UGT1A7	234191029	234346690		Butler, L. M.  et al. 2005	16030093				UDP glycosyltransferase 1 family, polypeptide A7			North Carolina	CDC GDPinfo	54577	HS.278896			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1626-32	Joint effects between UDP-glucuronosyltransferase 1A7 genotype and dietary carcinogen exposure on risk of colon cancer.		606432	20115	2	2005												
142055		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q37	UGT1A7	234191029	234346690		Machida, H.  et al. 2005	16097053				UDP glycosyltransferase 1 family, polypeptide A7		Japanese		CDC GDPinfo	54577	HS.278896			World journal of gastroenterology. 2005 Aug;11(31):4833-7	Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.		606432	23875	2	2005	 It is likely that the NAT2 gene is one of the determinants for CD in Japanese. Alternatively, a new CD determinant may exist in the 8p22 region, where NAT2 is located.											
142056	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2q37	UGT1A7	234191029	234346690		Tang, K. S.  et al. 2005	15929176				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			World journal of gastroenterology. 2005 Jun;11(21):3250-4	Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyltransferase 1A7 and 1A1 genes.		606432	23876	2	2005	 In conclusion, carriage of the UGT1A7*3 allele, as well as variant-211 UGT1A1 allele represents a risk factor for the development of, and a determinant for, metastases associated with CRC patients.	Case:268 colorectal cancer patinets;Control:441 healthy controls										
142057		cancer; Gilbert syndrome	CANCER	CAN		2	2q37	UGT1A7	234191029	234346690		Guillemette, C.   2003	12815363				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			The pharmacogenomics journal. 2003 ;3(3):136-58	Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.		606432	25752	2	2003	Review article		Irinotecan									
142058		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Van Der Logt, E. M.  et al. 2004	15319294				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		606432	27878	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
142059		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		Liu, C.  et al. 2002	12170472				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):324-8	[Genetic polymorphism of UDP-glucuronosyltransferase 1F and susceptibility to hepatocellular carcinoma]		606431	14659	2	2002	 Exons 2-5 of UGT1F are highly conservative, but exon 1 emerges highly polymorphic. And the polymorphism at locus 754 may be related with HCC.	Control:144 healthy controls;Case:84 patients with hepatocellular carcinoma										
142060		colorectal cancer	CANCER	CAN		2	2q37	UGT1A6	234191029	234346690		Saeki, M.  et al. 2005	15770079				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese		CDC GDPinfo	54578	Hs.554822			Drug metabolism and pharmacokinetics. 2005 Feb;20(1):85-90	Genetic polymorphisms of UGT1A6 in a Japanese population.		606431	14664	2	2005	Our results provide fundamental and useful information for genotyping UGT1A6 in the Japanese, and probably Asian populations.	Cohort 195 Japanese subjects 										
142061		glucuronidation	METABOLIC	MET	Carcinoma, Hepatocellular|Colonic Neoplasms|Liver Neoplasms	2	2q37	UGT1A6	234191029	234346690		Nagar, S.  et al. 2004	15284531				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Pharmacogenetics. 2004 Aug;14(8):487-99	Human UGT1A6 pharmacogenetics: identification of anovel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells		606431	20112	2	2004	 These data suggest that common genetic variation in human UGT1A6 confers functionally significant differences in biochemical phenotype as assessed in human tissue and cultured cells expressing recombinant allozymes. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6.	Cohort Caucasian and African-American populations 										
142062		glucuronidation	METABOLIC	MET		2	2q37	UGT1A6	234191029	234346690		Krishnaswamy, S.  et al. 2005	15761114				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			The Journal of pharmacology and experimental therapeutics. 2005 Jun;313(3):1331-9	UDP glucuronosyltransferase (UGT) 1A6 pharmacogenetics: I. Identification ofpolymorphisms in the 5'-regulatory and exon 1 regions, and association with human liver UGT1A6 gene expression and glucuronidation.		606431	20113	2	2005	In conclusion, although the identified UGT1A6 polymorphisms did not explain the observed glucuronidation variability, there does appear to be a significant role for environmental factors associated with alcohol consumption.	Cohort 54 samples from a well-characterized human liver bank 	alcohol									
142063	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	2	2q37	UGT1A6	234191029	234346690		Chan, A. T.  et al. 2005	15770010				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		United States	CDC GDPinfo	54578	Hs.554822			Journal of the National Cancer Institute. 2005 Mar;97(6):457-60	Genetic variants in the UGT1A6 enzyme, aspirin use, and the risk of colorectal adenoma.		606431	20114	2	2005	Thus, functional polymorphisms in the UGT1A6 enzyme statistically significantly modify the effect of aspirin on colorectal neoplasia, and certain subsets of the population, defined by genotype, may obtain differential benefit from aspirin chemoprevention.	Case women from a nested case-control study with colorectal adneoma;Control control women from a nested case-control study	aspirin									
142064	Y	Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A6	234191029	234346690		Peters, W. H.  et al. 2003	12480553				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Journal of hepatology. 2003 Jan;38(1):8-Mar	Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6:implications for patients with Gilbert's syndrome.		606431	23872	2	2003	 Most patients with Gilbert's syndrome, in addition to their reduced B-UGT enzyme activity, may have abnormalities in the glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A1*28 and UGT1A6*2 genotypes.	Cohort 39/253 human liver samples (n=39) and healthy Dutch Caucasian controls (n=253) 										
142065		cancer; Gilbert syndrome	CANCER	CAN		2	2q37	UGT1A6	234191029	234346690		Guillemette, C.   2003	12815363				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			The pharmacogenomics journal. 2003 ;3(3):136-58	Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.		606431	23873	2	2003	Review article		Irinotecan									
142066	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	2	2q37	UGT1A6	234191029	234346690		Verlaan, M.  et al. 2004	15247627				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDPinfo	54578	Hs.554822			Pharmacogenetics. 2004 Jun;14(6):351-7	Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis.		606431	23874	2	2004	 These data suggest that genetic polymorphisms in UGT1A1, UGT1A6 and in UGT1A8 do not predispose to the development of CP in Caucasians.	Control:140 healthy controls;Case:258 Adult chronic pancreatitis patients with alcoholic (n = 153), hereditary (n = 25) or idiopathic (n =:80) origin										
142067		phenytoin	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A6	234191029	234346690		Yamanaka, H.  et al. 2005	15855726				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):135-43	Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases.		606431	25751	2	2005	Although there was no relationship between the genetic polymorphisms of UGT1As and the interindividual difference in the 4'-HPPH glucuronidation, the large interindividual variability of 4'- HPPH glucuronidation may contribute to interindividual differences in toxic reactions to phenytoin.	Cohort 15 patients to whom phenytoin was administered were measured by liquid chromatography-tandem mass spectrometry 										
142068		1-hydroxypyrene, urinary; 2-naphtol	METABOLIC	MET		2	2q37	UGT1A6	234191029	234346690		Kim, Y. D.  et al. 2003	14646291				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Journal of occupational health. 2003 May;45(3):160-7	Effects of genetic polymorphisms in metabolic enzymes on the relationships between 8-hydroxydeoxyguanosine levels in human leukocytes and urinary 1-hydroxypyrene and 2-naphthol concentrations.		606431	27327	2	2003	In conclusion, there is a significant correlation between the 8-OHdG level in leukocytes and the urinary 1-OHP concentration in the population not occupationally exposed to PAHs. This relationship is affected by genetic polymorphisms in PAH metabolic enzymes.	Cohort 105 healthy Korean males without occupational exposure to polycyclic aromatic hydrocarbons 	smoking (tobacco)									
142069		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		McGreavey, L. E.  et al. 2005	16141797				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Pharmacogenetics and genomics. 2005 Oct;15(10):713-21	No evidence that polymorphisms in CYP2C8, CYP2C9, UGT1A6, PPARdelta and PPARgamma act as modifiers of the protective effect of regular NSAID use on the risk of colorectal carcinoma.		606431	27328	2	2005	 Our study confirmed the reduction in risk of colorectal cancer with regular NSAID use (odds ratio (OR) = 0.73, 95% confidence interval (CI) (0.56, 0.95)) but showed that none of the polymorphic genes studied appeared to modify the protective effect of regular NSAID use.		nonsteroidal anti-inflammatory (NSAID)									
142070		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		Van Der Logt, E. M.  et al. 2004	15319294				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54578	Hs.554822			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		606431	27667	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
142071		liver cancer	CANCER	CAN		2	2q37	UGT1A9	234191029	234346690		Yamanaka, H.  et al. 2004	15115919	(UGT1A9*22)		promoter	UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Pharmacogenetics. 2004 May;14(5):329-32	A novel polymorphism in the promoter region of human UGT1A9 gene (UGT1A9*22) and its effects on the transcriptional activity.		606434	14678	2	2004	In conclusion, the mutant allele with one base insertion in the promoter region of the UGT1A9 gene would alter the level of enzyme expression and the metabolism of those drugs that are substrates of UGT1A9.	Cohort 87/50/50 Japanese (n=87), Caucasian (n=50) and African-American (n=50) subjects 										
142072		glucuronidation	METABOLIC	MET		2	2q37	UGT1A9	234191029	234346690		Girard, H.  et al. 2004	15284532			promoter	UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Pharmacogenetics. 2004 Aug;14(8):501-15	Identification of common polymorphisms in the promoter of the UGT1A9 gene: evidence that UGT1A9protein and activity levels are strongly genetically controlled in the liver		606434	14679	2	2004	 This is the first study to demonstrate that naturally occurring sequence variations in the UGT1A9 promoter are informative in predicting the levels of protein and glucuronidating activity, providing a potential mechanism for interindividual variation in UGT1A9-mediated metabolism.	Cohort 48 human liver microsomes 										
142074		kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome|Genetic Predisposition to Disease	2	2q37	UGT1A9	234191029	234346690		Kanai, M.  et al. 2003	14521259				UDP glycosyltransferase 1 family, polypeptide A9			Japan	CDC GDPinfo	54600	Hs.124112			The Tohoku journal of experimental medicine. 2003 Jul;200(3):155-9	Polymorphisms of heme oxygenase-1 and bilirubin UDP-glucuronosyltransferase genes are not associated with Kawasaki disease susceptibility		606434	23877	2	2003	These polymorphisms are not associated with KD susceptibility.	Case Kawasaki disease patients;Control:controls										
142075	N	SN-38 pharmacokinetics	OTHER	OTH	Neoplasms	2	2q37	UGT1A9	234191029	234346690		Paoluzzi, L.  et al. 2004	15286088				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Journal of clinical pharmacology. 2004 Aug;44(8):854-60	Influence of Genetic Variants in UGT1A1 and UGT1A9 on the In Vivo Glucuronidation of SN-38		606434	23878	2	2004	It is concluded that UGT1A9 functional variants are rare in Caucasians and likely to be clinically insignificant in irinotecan regimens. Screening for the UGT1A1(*)28 polymorphism may identify patients with altered SN-38 pharmacokinetics.	Cohort 47/47 Caucasian patients treated with irinotecan (47 males and 47 females) 	Irinotecan									
142076		hyperbilirubinemia; hepatocellular carcinoma	METABOLIC	MET		2	2q37	UGT1A9	234191029	234346690		Innocenti, F.  et al. 2005	15864130				UDP glycosyltransferase 1 family, polypeptide A9		Caucasian		CDC GDPinfo	54600	Hs.124112			Pharmacogenetics and genomics. 2005 May;15(5):295-301	Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes.		606434	23879	2	2005	 This study for the first time described common UGT1A9-UGT1A1 haplotypes, highlighting important ethnic differences between Asians and Caucasians. If the functional effect of these haplotypes can be confirmed, this haplotypic information would be applicable to the correct design of prospective clinical studies of irinotecan, as well as of other drugs primarily metabolized by both UGT1A1 and UGT1A9.	Cohort Asian and Caucasian individuals 										
142077		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	2	2q37	UGT1A9	234191029	234346690		Vogel, A.  et al. 2001	11677206				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Gastroenterology. 2001 Nov;121(5):1136-44	Genetic link of hepatocellular carcinoma with polymorphisms of the UDP-glucuronosyltransferase UGT1A7 gene.		606434	23880	2	2001	 The significant association of hepatocellular carcinoma with the UGT1A7*3 allele encoding a low detoxification activity protein is identified and implicates UGT1A7 as a risk gene of hepatocarcinogenesis in addition to a role as potential marker for cancer risk assessment in chronic liver disease.	Case:59 patients with hepatocellular carcinoma;Control:70 control subjects without evidence of cancer										
142078	Y	colorectal cancer; drug hypersensitivity	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis|Neutropenia|Diarrhea	2	2q37	UGT1A9	234191029	234346690		Carlini, L. E.  et al. 2005	15709193				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Clinical cancer research. 2005 Feb;11(3):1226-36	UGT1A7 and UGT1A9 polymorphisms predict response and toxicity in colorectal cancer patients treated with capecitabine/irinotecan.		606434	23881	2	2005	 These data strongly suggest that UGT1A7 and/or UGT1A9 genotypes may be predictors of response and toxicity in CRC patients treated with capecitabine plus irinotecan. Specifically, patients with genotypes conferring low UGT1A7 activity and/or the UGT1A9 (dT)(9/9) genotype may be particularly likely to exhibit greater antitumor response with little toxicity.	Cohort 67 patients with measurable CRC treated with irinotecan i.v. (100 or 125 mg/m(2)) on days 1 and 8 and capecitabine orally (900 or 1,000 mg/m(2), twice daily) on days 2 through 15 of each 3-week cycle 	capecitabine Irinotecan									
142079		colorectal cancer; drug hypersensitivity; liver cancer; bladder cancer	CANCER	CAN		2	2q37	UGT1A9	234191029	234346690			16397224				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Cancer research. 2006 Jan;66(1):125-33	Characterization of Common UGT1A8, UGT1A9, and UGT2B7 Variants with Different Capacities to Inactivate Mutagenic 4-Hydroxylated Metabolites of Estradiol and Estrone		606434	23882	2	2006												
142080		phenytoin	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A9	234191029	234346690		Yamanaka, H.  et al. 2005	15855726				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):135-43	Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases.		606434	26739	2	2005	Although there was no relationship between the genetic polymorphisms of UGT1As and the interindividual difference in the 4'-HPPH glucuronidation, the large interindividual variability of 4'- HPPH glucuronidation may contribute to interindividual differences in toxic reactions to phenytoin.	Cohort 15 patients to whom phenytoin was administered were measured by liquid chromatography-tandem mass spectrometry 										
142081		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A9	234191029	234346690		Ehmer, U.  et al. 2004	15057901				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Hepatology (Baltimore, Md). 2004 Apr;39(4):970-7	Variation of hepatic glucuronidation: Novelfunctional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.		606434	27329	2	2004	Two polymorphisms of the hepatic UGT1A4 protein show a differential metabolic activity toward mutagenic amines and endogenous steroids, altering hepatic metabolism and detoxification.	Case:128 patietns with hepatocellular carcinoma;Control:235 blood donors										
142082		clozapine pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A4	234191029	234346690		Mori, A.  et al. 2005	15708967				UDP glycosyltransferase 1 family, polypeptide A4		Japanese		CDC GDPinfo	54657	HS.278896			Drug metabolism and disposition:  the biological fate of chemicals. 2005 May;33(5):672-5	UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation.		606429	14658	2	2005	This study shows the importance of identifying patients with the L48V polymorphism when calculating dosage, and when considering the potential adverse effects of drugs that are substrates of UGT1A4.	Cohort 100 healthy adult Japanese volunteers 	clozapine									
142083		NNAL-glucuronidating activities	OTHER	OTH	Neoplasms|Arrhythmias, Cardiac|Arrhythmias, Cardiac	2	2q37	UGT1A4	234191029	234346690		Saeki, M.  et al. 2005	15855727				UDP glycosyltransferase 1 family, polypeptide A4		Japanese		CDC GDPinfo	54657	HS.278896			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):144-51	Genetic variations and haplotypes of UGT1A4 in a Japanese population.		606429	20110	2	2005	Our results provide fundamental and useful information for genotyping UGT1A4 in the Japanese and probably Asian populations.	Control:60 healthy volunteers;Case:88/108 cancer patients (n=88) and arrhythmic patients:(n=108):Japan										
142084	Y	NNAL-glucuronidating activities	OTHER	OTH		2	2q37	UGT1A4	234191029	234346690		Wiener, D.  et al. 2004	14871856				UDP glycosyltransferase 1 family, polypeptide A4				CDC GDPinfo	54657	HS.278896			Cancer research. 2004 Feb;64(3):1190-6	Correlation between UDP-glucuronosyltransferase genotypes and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone glucuronidation phenotype in human liver microsomes		606429	20121	2	2004	These data suggest that the UGT1A4 codon 24 and UGT2B7 codon 268 polymorphisms may be associated with altered rates glucuronidation and detoxification of NNAL in vivo.	Cohort 78 human liver microsomal specimens 										
142085		phenytoin	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A4	234191029	234346690		Yamanaka, H.  et al. 2005	15855726				UDP glycosyltransferase 1 family, polypeptide A4				CDC GDPinfo	54657	HS.278896			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):135-43	Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases.		606429	23871	2	2005	Although there was no relationship between the genetic polymorphisms of UGT1As and the interindividual difference in the 4'-HPPH glucuronidation, the large interindividual variability of 4'- HPPH glucuronidation may contribute to interindividual differences in toxic reactions to phenytoin.	Cohort 15 patients to whom phenytoin was administered were measured by liquid chromatography-tandem mass spectrometry 										
142087	Y	neonatal hyperbilirubinemia	METABOLIC	MET	Gilbert Disease|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Maruo Y et al. 1999	10353933				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			KGB	54658	Hs.554822			Pediatrics. 1999 Jun;103(6 Pt 1):1224-7	Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism.		191740	6773	1	1999	 The missense mutation causing G71R is the first reported polymorphism for UGT1A1, and the mutation is a risk factor for nonphysiologic neonatal hyperbilirubinemia. The high incidence of hyperbilirubinemia in the Japanese may be attributable to the high frequency of this missense mutation.											
142088	Y	hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Sugatani J et al. 2002	11906189			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			KGB	54658	Hs.554822			Biochemical and biophysical research communications. 2002 Mar;292(2):492-7	Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.		191740	6774	1	2002	Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene promoter (T-3263G and A[TA](7)TAA) and/or exon 1 of the gene (G211A) could explain the hyperbilirubinemia seen in the majority of individuals with Gilbert's syndrome.	Control normobilirubinemic controls;Case:25 subjects with mild hyperbilirubinemia										
142089	Y	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Leukopenia	2	2q37	UGT1A1	234191029	234346690		Ando, Y.  et al. 2000	11156391				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Cancer research. 2000 Dec;60(24):6921-6	Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogeneticanalysis.		191740	14631	2	2000	We suggest that determination of the UGT1A1 genotypes clinically useful for predicting severe toxicity by irinotecan in patients. This research warrants a prospective trial to usefulness of gene diagnosis of UGT1A1 polymorphisms prior tb chemotherapy.	Case:26 cancer patients experiencing severe toxicity after treatment with irinotecan;Control:92 cancer patients not experiencing severe toxicity after treatment with irinotecan	Irinotecan									
142090	N	breast cancer; hormone levels	CANCER	CAN	Breast Neoplasms	2	2q37	UGT1A1	234191029	234346690		Guillemette, C.  et al. 2001	11401924				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Cancer epidemiology, biomarkers & prevention. 2001 Jun;10(6):711-4	Association of genetic polymorphisms in UGT1A1 with breast cancer and plasma hormone levels.		191740	14632	2	2001	The results presented do not support a strong association between the UGT1A1 promoter polymorphism and the risk of breast cancer.	Case primarily Caucasian breast cancer patients within the Nurses' Health Study cohort;Control non-breast cancer patients within the Nurses' Health Study cohort										
142091		hyperbilirubinemia	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Fertrin, K. Y.  et al. 2002	11857560			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			American journal of medical genetics. 2002 Mar;108(2):117-9	Frequencies of UDP-glucuronosyltransferase 1 (UGT1A1) gene promoter polymorphisms among distinct ethnic groups from Brazil.		191740	14633	2	2002	The high frequencies of (TA)(7) polymorphism among the three groups confirm previous data that this polymorphism is very ancient and appears to be distributed throughout the world.	Cohort 157 individuals from Brazil, comprising 71 Caucasians, 54 African-derived subjects, and 32 Parakana Indians 										
142092	Y	cholelithiasis; bilirubin	METABOLIC	MET	Cholelithiasis|Anemia, Sickle Cell	2	2q37	UGT1A1	234191029	234346690		Passon, R. = G et al. 2001	11878580			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Journal of pediatric hematology/oncology. 2001 Oct;23(7):448-51	Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia.		191740	14634	2	2001	 Genetic variation in the UGT1A promoter significantly influences serum bilirubin levels and the development of symptomatic cholelithiasis in children with SCA. The UGT1A promoter polymorphisms represent an important nonglobin genetic modifier of clinical disease expression in SCA.	Cohort 115 consecutive children with sickle cell anemia 										
142093	Y	bilirubin; hemolysis	METABOLIC	MET	Hemolysis	2	2q37	UGT1A1	234191029	234346690		Kaplan, M.  et al. 2002	11915038			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Hepatology (Baltimore, Md). 2002 Apr;35(4):905-11	Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism.		191740	14635	2	2002	In conclusion, 7/7 UGT promoter polymorphism was associated with increased blood COHbc values (unexpected finding) as well as diminished serum total conjugated bilirubin ratios (expected finding). The increased hemolysis may contribute to the pathogenesis of increased STB values seen in Gilbert's syndrome, and exacerbate neonatal hyperbilirubinemia associated with the promoter polymorphism.	Cohort term male newborns 										
142094		G6PD deficiency	METABOLIC	MET	Glycogen Storage Disease Type I|Hyperbilirubinemia, Hereditary	2	2q37	UGT1A1	234191029	234346690		Arambula, E.  et al. 2002	11987245			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Mexican	Mexico	CDC GDPinfo	54658	HS.278896			Blood cells, molecules & diseases. 2002 Jan-Feb;28(1):86-90	Genotyping by"cold single-strand conformation polymorphism" of the UGT1A1 promoter polymorphism in Mexican mestizos.		191740	14636	2	2002	Genotyping by SSCP of the (TA) n polymorphism is an adequate methodological option.	Control:375 G6PD normal mestizos;Case:81 G6PD deficient mestizos										
142095	N	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Colorectal Neoplasms|Lung Neoplasms	2	2q37	UGT1A1	234191029	234346690		Ando, M.  et al. 2002	12036456				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese	Japan	CDC GDPinfo	54658	HS.278896			Japanese journal of cancer research. 2002 May;93(5):591-7	Genetic polymorphisms of the UDP-glucuronosyltransferase 1A7 gene and irinotecan toxicity in Japanese cancer patients.		191740	14637	2	2002	The results suggested that determination of UGT1A7 genotypes would not be useful for predicting severe toxicity of irinotecan.	Control:108 healthy subjects;Case:118 cancer patients;Case:395/100 patients with Alzheimer's disease (n=395) and patients with brain Abeta load (n=100);Control:503 control individuals	Irinotecan									
142096		Gilbert's syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Rauchschwalbe, S. K.  et al. 2002	12078936			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			International journal of clinical pharmacology and therapeutics. 2002 Jun;40(6):233-40	Predicting the risk of sporadic elevated bilirubin levels and diagnosing Gilbert's syndrome by genotyping UGT1A1*28 promoter polymorphism.		191740	14638	2	2002	The genotyping of UGT1A1 promoter polymorphism can help to improve safety and the reliable assessment of adverse events in clinical studies. Our data additionally support the demand to refine the bilirubin reference values.	Cohort 304 volunteers (152 male, 152 female) 										
142097	N	Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Kim, Y. H.  et al. 2002	12499798			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Korean	Korea	CDC GDPinfo	54658	HS.278896			Taehan Kan Hakhoe chi. 2002 Jun;8(2):132-8	[A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome]		191740	14639	2	2002	 Although the prevalence of A(TA)TAA mutation in Korean patients with Gilbert's syndrome is significantly higher than in the controls, the mutations of the promoter region of UGT-1A1 gene appear not to be the main or sole cause in Gilbert's syndrome in Korea since the prevalence of A(TA)TAA mutation is not so high. Further studies to determine the relationship between other UGT-1A1 gene mutation and Gilbert's syndrome in Korea are needed.	Case:12 Korean patients with Gilbert's syndrome;Control:20 healthy subjects										
142098	Y	sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Hemolysis	2	2q37	UGT1A1	234191029	234346690		Heeney, M. M.  et al. 2003	12677174			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			The Journal of laboratory and clinical medicine. 2003 Apr;141(4):279-82	UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia.		191740	14640	2	2003	These data indicate the UGT1A promoter polymorphism is a powerful nonglobin genetic modifier in SCA that influences serum bilirubin both at baseline and on hydroxyurea therapy. UGT1A promoter polymorphisms may therefore influence the ability of hydroxyurea to prevent gallstone formation in patients with SCA.	Cohort a large cohort of children with sickle cell anemia 										
142099		Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Kohle, C.  et al. 2003	12732365	(UGT1A1*28)			UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian	Egypt	CDC GDPinfo	54658	HS.278896			Biochemical pharmacology. 2003 May;65(9):1521-7	Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians.		191740	14641	2	2003	Frequent haplotypes containing several UGT1 allelic variants should be taken into account in studies on the association between diseases, abnormal drug reactions, and UGT1 family polymorphisms.	Cohort 100/50 healthy Caucasians (n=100) and Egyptians (n=50) 										
142100		jaundice, neonatal	METABOLIC	MET	Gilbert Disease|Jaundice, Neonatal|Body Weight	2	2q37	UGT1A1	234191029	234346690		Ulgenalp, A.  et al. 2003	12743455			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		Turkey	CDC GDPinfo	54658	HS.278896			Biology of the neonate. 2003 ;83(4):258-62	Analyses of polymorphism for UGT1*1 exon 1 promoter in neonates with pathologic and prolonged jaundice.		191740	14642	2	2003	In conclusion, we showed that TA 7/7 and TA 6/7 genotypes are not rare in our population and that the presence of these polymorphisms alone does not play a significant role in the etiology of unexplained pathologic or prolonged neonatal hyperbilirubinemia.	Control:35 healthy, nonjaundiced neonates;Case:38/37 neonates who had unexplained pathologic jaundice (n=38) and neonates who had unexplained prolonged:jaundice(n=37)										
142101		endometrial cancer	CANCER	CAN	Thalassemia	2	2q37	UGT1A1	234191029	234346690		Premawardhena, A.  et al. 2003	12850492			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Blood cells, molecules & diseases. 2003 Jul-Aug;31(1):98-101	The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionaryimplications.		191740	14643	2	2003	These findings define those populations with a high frequency of hemoglobin E-beta-thalassemia and related disorders that are at increased risk for hyperbilirubinemia and gall bladder disease and provide evolutionary insights into how these polymorphisms have arisen and are so unequally distributed among human populations.	Cohort wide-scale populations study groups 										
142102		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	2	2q37	UGT1A1	234191029	234346690		Font, A.  et al. 2003	14586211				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Investigational new drugs. 2003 Nov;21(4):435-43	Weekly regimen of irinotecan/docetaxel in previously treated non-small cell lung cancer patients and correlation with uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) polymorphism.		191740	14644	2	2003	 This weekly irinotecan/docetaxel regimen has shown an acceptable toxicity profile while encouraging median and 1-year survival in heavily pretreated NSCLC patients. The tendency to better prognosis in patients carrying the variant genotypes 6/7 and 7/7 of UGT1A1 gene requires further validation.	Cohort 47 patients with non-small cell lung cancer treated with at least one prior chemotherapy regimen 	docetaxel Irinotecan									
142103	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	2	2q37	UGT1A1	234191029	234346690		Duguay, Y.  et al. 2004	14871858			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Cancer research. 2004 Feb;64(3):1202-7	The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk.		191740	14645	2	2004	These observations suggest that lower expression of UGT1A1 decreases the risk of endometrial cancer by reducing the excretion of 2-hydroxyestradiol, the antiproliferative metabolite of E(2), in the endometrium.	Case:226 cases of endometrial cancer from within the Nurses' Health Study;Control:666 matched controls	menopause									
142104		Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Skarke, C.  et al. 2004	15049432			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			International journal of clinical pharmacology and therapeutics. 2004 Mar;42(3):133-8	Single-step identification of all length polymorphisms in the UGT1A1 gene promoter.		191740	14646	2	2004	 Our method enables reliable genetic single-step screening for all known length polymorphisms in the UGT1A1 gene promoter that cause Gilbert's syndrome. This facilitates pharmacogenetic-guided dosing of drugs with known toxicity metabolized by UGT1A1.	Cohort 115 subjects 										
142105	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Adegoke, O. J.  et al. 2004	15111762				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		China	CDC GDPinfo	54658	HS.278896			Breast cancer research and treatment. 2004 Jun;85(3):239-45	Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 (UGT1A1) and risk of breast cancer.		191740	14647	2	2004	No significant associations were observed with *28 allele and breast cancer risk by estrogen receptor/progesterone receptor status.	Case:1,047 breast cancer cases from the Shangai Breast Cancer:Study:Shanghai, China;Control:1,083 community controls	body mass family history menarche									
142106	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2q37	UGT1A1	234191029	234346690		Cecchin, E.  et al. 2004	15254716	(UGT1A1*28)			UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Oncology reports. 2004 Aug;12(2):457-62	UGT1A1*28 polymorphism in ovarian cancer patients.		191740	14648	2	2004	In conclusion, the prevalence of UGT1A1*28 found in mucinous OCP could suggest a role in the development of specific histologic sub-groups and could become a marker to be considered when planning ovarian cancer chemotherapy.	Control:215 female healthy blood donors;Case:217 ovarian cancer patients										
142107		Gilbert syndrome; chemotherapy toxicity	METABOLIC	MET	Colorectal Neoplasms|Neoplasm Metastasis	2	2q37	UGT1A1	234191029	234346690		Rouits, E.  et al. 2004	15297419				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Clinical cancer research. 2004 Aug;10(15):5151-9	Relevance of Different UGT1A1 Polymorphisms in Irinotecan-Induced Toxicity: A Molecular andClinical Study of 75 Patients		191740	14649	2	2004	 The method we set up is suitable for the detection of UGT 1A1 polymorphism in routine practice before irinotecan treatment. It could help to detect the patients homozygous or heterozygous for Gilbert's syndrome, at-risk of CPT 11-induced toxicity, and thus could help to individualize the dose to optimize efficacy and limit toxicity.	Cohort 75 patients with advanced colorectal cancer 	5-flurouracil Irinotecan									
142108	N	Gilbert syndrome; Crigler-Najjar syndrome	METABOLIC	MET	Crigler-Najjar Syndrome|Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Takeuchi, K.  et al. 2004	15304120				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese	Japan	CDC GDPinfo	54658	HS.278896			Journal of gastroenterology and hepatology. 2004 Sep;19(9):1023-8	Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects.		191740	14650	2	2004	 Polymorphisms in the coding region of UGT1A1 were commonly observed in Japanese patients with GS and in healthy subjects. The genetic basis of hyperbilirubinemia appears to be different between the Japanese and Caucasian populations.	Case:4/63 Japanese patients with Crigler-Najjar syndrome type 2 (n=4) and Gilbert's syndrome (63);Control:71 healthy anicteric subjects										
142109		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Kaniwa, N.  et al. 2004	15572581				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	African American		CDC GDPinfo	54658	HS.278896			Drug metabolism and disposition:  the biological fate of chemicals. 2005 Mar;33(3):458-65	Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686C> T (P229L) found in an African-American.		191740	14651	2	2004	These differences in haplotype distribution patterns among the three populations suggest the possibility of ethnic differences in toxicity profiles of drugs detoxicated by UGT1A1. A novel SNP, 686C>T (P229L), was found in an African-American. The intrinsic clearance of SN-38 by P229L UGT1A1 expressed in COS-1 cells was about 3% of the wild type. The results of Western blotting and real-time RT-PCR suggest that the low glucuronidation activity of the variant was partly due to its low stability. The variation 686C>T may cause high toxicity during CPT-11 therapy or hyperbilirubinemia in patients.	Cohort 150/150/150 African-Americans (n=150), Caucasians (n=150), and Japanese (n=150) 										
142110	Y	cholelithiasis	METABOLIC	MET	Cholelithiasis|Anemia, Sickle Cell	2	2q37	UGT1A1	234191029	234346690		Chaar, V.  et al. 2005	15710570				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Haematologica. 2005 Feb;90(2):188-99	Association of UGT1A1 polymorphism with prevalence and age at onset of cholelithiasis in sickle cell anemia.		191740	14652	2	2005	This study shows that the UGT1A1 gene promoter polymorphism is a major genetic risk factor modifying the frequency and age-at-onset of cholelithiasis in SCA patients.	Cohort 171/153 sickle cell anemia children (n=171) andadults (n=153) regularly followed for a number of years at the Guadeloupe sickle cell center 										
142111	Y	irinotecan toxicity	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Kitagawa, C.  et al. 2005	15864124				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Pharmacogenetics and genomics. 2005 Jan;15(1):35-41	Genetic polymorphism in the phenobarbital-responsive enhancer module of the UDP-glucuronosyltransferase 1A1 gene and irinotecan toxicity.		191740	14653	2	2005	Our results suggest that a highly significant linkage disequilibrium exists between T-3279G and UGT1A1*28 polymorphisms, and that the variants of T-3279G and UGT1A1*28 cooperatively decrease transcriptional activity of the UGT1A1 promoter. The determination of T-3279G and UGT1A1*28 genotypes might be clinically useful in predicting severe irinotecan toxicity in cancer patients.	Cohort 119 cancer patients who had received irinotecan 										
142112	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2q37	UGT1A1	234191029	234346690		Tang, K. S.  et al. 2005	15929176				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			World journal of gastroenterology. 2005 Jun;11(21):3250-4	Link between colorectal cancer and polymorphisms in the uridine-diphosphoglucuronosyltransferase 1A7 and 1A1 genes.		191740	14654	2	2005	 In conclusion, carriage of the UGT1A7*3 allele, as well as variant-211 UGT1A1 allele represents a risk factor for the development of, and a determinant for, metastases associated with CRC patients.	Case:268 colorectal cancer patinets;Control:441 healthy controls										
142113	Y	Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Peters, W. H.  et al. 2003	12480553				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Journal of hepatology. 2003 Jan;38(1):8-Mar	Combined polymorphisms in UDP-glucuronosyltransferases 1A1 and 1A6:implications for patients with Gilbert's syndrome.		191740	14660	2	2003	 Most patients with Gilbert's syndrome, in addition to their reduced B-UGT enzyme activity, may have abnormalities in the glucuronidation of aspirin or coumarin- and dopamine-derivatives, due to this combination of UGT1A1*28 and UGT1A6*2 genotypes.	Cohort 39/253 human liver samples (n=39) and healthy Dutch Caucasian controls (n=253) 										
142114	N	pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	2	2q37	UGT1A1	234191029	234346690		Verlaan, M.  et al. 2004	15247627				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDPinfo	54658	HS.278896			Pharmacogenetics. 2004 Jun;14(6):351-7	Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis.		191740	14662	2	2004	 These data suggest that genetic polymorphisms in UGT1A1, UGT1A6 and in UGT1A8 do not predispose to the development of CP in Caucasians.	Control:140 healthy controls;Case:258 Adult chronic pancreatitis patients with alcoholic (n = 153), hereditary (n = 25) or idiopathic (n =:80) origin										
142115		phenytoin	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Yamanaka, H.  et al. 2005	15855726				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Drug metabolism and pharmacokinetics. 2005 Apr;20(2):135-43	Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases.		191740	14665	2	2005	Although there was no relationship between the genetic polymorphisms of UGT1As and the interindividual difference in the 4'-HPPH glucuronidation, the large interindividual variability of 4'- HPPH glucuronidation may contribute to interindividual differences in toxic reactions to phenytoin.	Cohort 15 patients to whom phenytoin was administered were measured by liquid chromatography-tandem mass spectrometry 										
142116	N	cancer	CANCER	CAN	Neoplasms|Pain	2	2q37	UGT1A1	234191029	234346690		Holthe, M.  et al. 2002	12185559	H268Y and UGT1A1*28			UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			European journal of clinical pharmacology. 2002 Aug;58(5):353-6	Morphine glucuronide-to-morphine plasma ratios are unaffected by the UGT2B7 H268Y and UGT1A1*28 polymorphisms in cancer patients on chronic morphine therapy.		191740	14685	2	2002	 The UGT2B7 H268Y polymorphism cannot account for the considerable variation in glucuronide-to-morphine ratios in cancer patients. Moreover, the contribution of UGT1A1 to the formation of M3G appears to be of minor biological significance, at least in a UGT2B7 background.	Cohort 70 patients with normal hepatic and renal function using slow-release morphine to relieve cancer pain 	morphine									
142117		Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Fernandez Salazar, J. M.  et al. 2000	11141380				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Spanish	Spain	CDC GDPinfo	54658	HS.278896			Med Clin (Barc). 2000 Oct;115(14):540-1	[Distribution of the A(TA)7TAA genotype associated with Gilbert syndrome in the Spanish population]		191740	20081	2	2000	 The frequency of the abnormal allele, similar in different caucasian populations, raise the question whether it would be worthwhile and cost-effective to introduce molecular screening for Gilbert's syndrome in the study of mild, chronic unconjugated hyperbilirubinemia, in the absence of haemolysis or evidence of hepatic injury.	Cohort 100 blood donors Spain 										
142118	Y	Gilbert's syndrome	METABOLIC	MET	beta-Thalassemia|Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Tzetis, M.  et al. 2001	11764096				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		Greece	CDC GDPinfo	54658	HS.278896			Pediatric hematology and oncology. 2001 Dec;18(8):477-84	Gilbert syndrome associated with beta-thalassemia.		191740	20082	2	2001	These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals.	Cohort 128/33 beta-thalassemia individuals (n=128,108 transfusion-dependent beta-thal patients, 20 very mild beta-thal intermedia) and in beta-thal heterozygotes (n=33) 										
142119		jaundice, neonatal	METABOLIC	MET	Gilbert Disease|Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Seco, M.  et al. 2002	11827650			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			An Esp Pediatr. 2002 Feb;56(2):139-43	[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]		191740	20083	2	2002	 The results of this study suggest that there is a relationship between neonatal jaundice and Gilbert's syndrome among the Spanish population. These results, together with those of other authors, suggest that genetic screening for Gilbert's syndrome should be included in the investigation of neonatal jaundice in our population. Further studies with a greater number of subjects would determine the exact relationship between marked neonatal jaundice and IGTA1A polymorphism.Key words:	Cohort 136 Spanish newborns (21 had neonatal jaundice, 69 were healthy and the remaining newborns had various diseases) 										
142120	Y	hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Sugatani, J.  et al. 2002	11906189			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Biochemical and biophysical research communications. 2002 Mar;292(2):492-7	Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.		191740	20084	2	2002	Our results indicate that homozygosity and compound heterozygosity for mutations in the UGT1A1 gene promoter (T-3263G and A[TA](7)TAA) and/or exon 1 of the gene (G211A) could explain the hyperbilirubinemia seen in the majority of individuals with Gilbert's syndrome.	Control normobilirubinemic controls;Case:25 subjects with mild hyperbilirubinemia										
142121	Y	hyperbilirubinemia	METABOLIC	MET	Metabolism, Inborn Errors|Jaundice, Neonatal|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Huang, C. S.  et al. 2002	12105841				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Taiwanese		CDC GDPinfo	54658	HS.278896			Gastroenterology. 2002 Jul;123(1):127-33	Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia.		191740	20085	2	2002	 The results indicate that carriage of the homozygous 211 G to A variation within the coding region in the UGT1A1 gene is an additive risk factor for neonatal hyperbilirubinemia in G6PD-deficient Taiwanese male neonates.	Case:212 G6PD-deficient male neonates:Taiwan;Control:232 control male neonates										
142122	Y	hyperbilirubinemia	METABOLIC	MET	Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Huang, C. S.  et al. 2002	12357057				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Pediatric research. 2002 Oct;52(4):601-5	Relationship Between Bilirubin UDP-Glucuronosyl Transferase 1A1 Gene and Neonatal Hyperbilirubinemia		191740	20086	2	2002	In conclusion, this study has demonstrated that variation at nucleotide 211 of the UGT1A1 gene is a risk factor for the development of neonatal hyperbilirubinemia. Pediatricians should closely follow hyperbilirubinemic newborn infants who carry homozygous 211 G to A variation in UGT1A1 gene.	Case:123 newborn infants suffering from unconjugated hyperbilirubinemia who had no known risk factors for hyperbilirubinemia;Control:218 heathy control neonates										
142123	Y	hyperbilirubinemia	METABOLIC	MET	Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Yamamoto, A.  et al. 2002	12502904				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese	Japan	CDC GDPinfo	54658	HS.278896			The Kobe journal of medical sciences. 2002 Aug;48(4-Mar):73-7	Gly71Arg mutation of the bilirubin UDP-glucuronosyltransferase 1A1 gene is associated with neonatal hyperbilirubinemia in the Japanese population.		191740	20088	2	2002	This finding strongly suggests that the presence of the G71R mutation contributes to the development of neonatal hyperbilirubinemia in the Japanese population.	Case:23 Japanese newborns with hyperbilirubinemia;Control:49 infants without hyperbilirubinemia										
142124		sickle cell anemia; thalassemia; Gilbert syndrome	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Thalassemia|Gilbert Disease|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Kalotychou, V.  et al. 2003	12850481			promoter	UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Greek	Greece	CDC GDPinfo	54658	HS.278896			Blood cells, molecules & diseases. 2003 Jul-Aug;31(1):38-42	Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease.		191740	20090	2	2003	These findings suggest that the coexistence of Gilbert's syndrome in patients with thalassemia intermedia and sickle cell disease may be the cause of the elevated values of unconjugated bilirubin, reducing the possibility of excessive hemolysis in these patients.	Cohort 31/27 Greek patients with thalassemia intermedia (n=31) and Greek compound heterozygotes for beta thalassemia and sickle cell anemia (n=27) 										
142125		jaundice	METABOLIC	MET	Gilbert Disease|Genetic Predisposition to Disease|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Danoff, T. M.  et al. 2003	14647407				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			The pharmacogenomics journal. 2004 ;4(1):49-53	A Gilbert's syndrome UGT1A1 variant confers susceptibility to tranilast-induced hyperbilirubinemia.		191740	20092	2	2003	Rapid identification of genetic factors accounting for the observed adverse effect during the course of a double-blind clinical trial demonstrated the potential application of pharmacogenetics in the clinical development of safe and effective medicines.	Case:127 hyperbilirubinemic patients;Control:909:controls										
142126	Y	agranulocytosis	HEMATOLOGICAL	HEM	Neutropenia	2	2q37	UGT1A1	234191029	234346690		Innocenti, F.  et al. 2004	15007088				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Journal of clinical oncology. 2004 Apr;22(8):1382-8	Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan.		191740	20093	2	2004	 UGT1A1 genotype and total bilirubin levels are strongly associated with severe neutropenia, and could be used to identify cancer patients predisposed to the severe toxicity of irinotecan. The hypothesis that the -3156G>A variant is a better predictor of UGT1A1 status than the previously reported TA indel requires further testing.	Cohort 66 cancer patients with advanced disease refractory to other treatments received irinotecan 350 mg/m(2) every 3 weeks 	Irinotecan									
142127	Y	bilirubin; irinotecan pharmacogenetics	METABOLIC	MET	Neoplasms	2	2q37	UGT1A1	234191029	234346690		Sai, K.  et al. 2004	15179405				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese	Japan	CDC GDPinfo	54658	HS.278896			Clinical pharmacology and therapeutics. 2004 Jun;75(6):501-15	UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer.		191740	20094	2	2004	 This study identified several UGT1A1 haplotypes significantly associated with the reduced AUC ratio (*28 and *6) and with the increased total bilirubin level (*28, *60, and *IB) and suggested that the novel haplotype *IB might be functionally important. These findings will be useful for further pharmacogenetic studies on adverse reactions to irinotecan.	Cohort 195 Japanese cancer patients 	Irinotecan									
142128	N	bilirubin; Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Rauchschwalbe, S. K.  et al. 2004	15180166				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			International journal of clinical pharmacology and therapeutics. 2004 Feb;42(2):73-7	Glucuronidation of acetaminophen is independent of UGT1A1 promotor genotype.		191740	20095	2	2004	These data confirm that there is no correlation between the capacity to glucuronidate acetaminophen, the UGT1A1 genotype and the bilirubin serum level. Acetaminophen is likely to be substrate of a UGT isoform other than the UGT1A1.	Cohort 23 healthy male volunteers 	acetaminophen									
142129	Y	drug hypersensitivity	METABOLIC	MET	Colorectal Neoplasms|Diarrhea	2	2q37	UGT1A1	234191029	234346690		Marcuello, E.  et al. 2004	15280927				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			British journal of cancer. 2004 Aug;91(4):678-82	UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer		191740	20096	2	2004	The role of the UGT1A1 genotype as a predictor of toxicity in cancer patients receiving irinotecan demands the performance of a randomized trial to ascertain whether genotype-adjusted dosages of the drug can help to establish safe and effective doses not only for patients with the UGT1A1(*)28 homozygous genotype but also for those with the most common UGT1A1 6/6 or 6/7 genotype.	Cohort 95 patients with metastatic colorectal cancer treated with an irinotecan-containing chemotherapy 	Irinotecan									
142130		SN-38 pharmacokinetics	UNKNOWN	UNK	Neoplasms	2	2q37	UGT1A1	234191029	234346690		Paoluzzi, L.  et al. 2004	15286088				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Journal of clinical pharmacology. 2004 Aug;44(8):854-60	Influence of Genetic Variants in UGT1A1 and UGT1A9 on the In Vivo Glucuronidation of SN-38		191740	20097	2	2004	It is concluded that UGT1A9 functional variants are rare in Caucasians and likely to be clinically insignificant in irinotecan regimens. Screening for the UGT1A1(*)28 polymorphism may identify patients with altered SN-38 pharmacokinetics.	Cohort 47/47 Caucasian patients treated with irinotecan (47 males and 47 females) 	Irinotecan									
142131		cholelithiasis; sickle cell anemia	METABOLIC	MET	Gallstones|Anemia, Sickle Cell	2	2q37	UGT1A1	234191029	234346690		Haverfield, E. V.  et al. 2004	15388579				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Blood. 2005 Feb;105(3):968-72	UGT1A1 variation and gallstone formation in sickle cell disease.		191740	20098	2	2004	While further studies of the pathogenesis of gallstones in SS disease are required, the (TA)7/(TA)7 genotype may be a risk factor for symptomatic gallstones in older subjects with SS disease.	Control:111 normal controls;Case:541 sickle cell disease subjects from the Jamaican Sickle Cell Cohort Study (cohort sample, n=209) and the Sickle Cell Clinic at the University of the West Indies, Kingston, Jamaica (clinic sample,:n=357):Jamaica										
142132		jaundice, neonatal	METABOLIC	MET	Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Sutomo, R.  et al. 2004	15491385				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Malaysian	Indonesia|Malaysia	CDC GDPinfo	54658	HS.278896			Pediatrics international. 2004 Oct;46(5):565-9	Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations		191740	20099	2	2004	 The G71R mutation is present, but very rare, in Javanese-Indonesians and Malay-Malaysians. Thus, G71R mutation may not contribute to the high incidence of the neonatal jaundice in South-east Asian populations. DHPLC analysis is a very useful method for detecting the G71R mutation.	Cohort 136 										
142133		drug hypersensitivity	METABOLIC	MET	Neoplasms|Anemia|Thrombocytopenia|Leukopenia|Neutropenia|Diarrhea|Nausea|Vomiting	2	2q37	UGT1A1	234191029	234346690		Soepenberg, O.  et al. 2005	15746053				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Clinical cancer research. 2005 Feb;11(4):1504-11	Phase I pharmacokinetic, food effect, and pharmacogenetic study of oral irinotecan given as semisolid matrix capsules in patients with solid tumors.		191740	20101	2	2005	 For oral irinotecan, a dose of 70 mg/m(2)/day for 5 consecutive days every 3 weeks is recommended for further studies. Delayed diarrhea was the main DLT, similar to that observed with intravenously administered irinotecan. This study confirms that oral administration of irinotecan is feasible and may have favorable pharmacokinetic characteristics.											
142134		bilirubin	METABOLIC	MET	Gilbert Disease|Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Kanai, M.  et al. 2005	15771689				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Chinese	Japan	CDC GDPinfo	54658	HS.278896			Pediatrics international. 2005 Apr;47(2):137-41	Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene:the common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese.		191740	20102	2	2005	 The -3263T > G mutation is not likely to be associated with the neonatal hyperbilirubinemia in Japanese.	Cohort Japanese, Korean, Chinese and German healthy adult controls Cohort 119/26 neonates born at Yamagat University Hospital (n=119) and subjects who had undergone phototherapy dure to severe hyperbilirubinemia at 4 other hospitals (n=26) 										
142135		hyperbilirubinemia; hepatocellular carcinoma	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Innocenti, F.  et al. 2005	15864130				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDPinfo	54658	HS.278896			Pharmacogenetics and genomics. 2005 May;15(5):295-301	Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes.		191740	20105	2	2005	 This study for the first time described common UGT1A9-UGT1A1 haplotypes, highlighting important ethnic differences between Asians and Caucasians. If the functional effect of these haplotypes can be confirmed, this haplotypic information would be applicable to the correct design of prospective clinical studies of irinotecan, as well as of other drugs primarily metabolized by both UGT1A1 and UGT1A9.	Cohort Asian and Caucasian individuals 										
142136		hyperbilirubinemia	METABOLIC	MET	Gilbert Disease|Hyperbilirubinemia, Neonatal	2	2q37	UGT1A1	234191029	234346690		Yusoff, S.  et al. 2005	16210851				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Malaysian		CDC GDPinfo	54658	HS.278896			Biology of the neonate. 2005 Oct;89(3):171-176	Frequencies of A(TA)(7)TAA, G71R, and G493R Mutations of the UGT1A1 Gene in the Malaysian Population.		191740	20106	2	2005												
142137		cholelithiasis	METABOLIC	MET	Cholelithiasis|Glucosephosphate Dehydrogenase Deficiency|Thalassemia|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Huang, Y. Y.  et al. 2005	16237771				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			World journal of gastroenterology. 2005 Sep;11(36):5710-3	Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis.		191740	20107	2	2005	 Our results show that the homozygous variation in the UGT1A1 gene is a risk factor for the development of cholelithiasis in Taiwan Chinese.											
142138		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Ando, Y.  et al. 2005	16257834				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Drug metabolism reviews. 2005 ;37(3):565-74	Clinical pharmacogenetics of irinotecan (CPT-11).		191740	20108	2	2005												
142139		icterophyloric syndrome	OTHER	OTH	Pyloric Stenosis, Hypertrophic|Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Hua, L.  et al. 2005	16257926				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Pediatric research. 2005 Nov;58(5):881-4	The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis.		191740	20109	2	2005												
142140		cancer; Gilbert syndrome	CANCER	CAN		2	2q37	UGT1A1	234191029	234346690		Guillemette, C.   2003	12815363				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			The pharmacogenomics journal. 2003 ;3(3):136-58	Pharmacogenomics of human UDP-glucuronosyltransferase enzymes.		191740	20111	2	2003	Review article		Irinotecan									
142141	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Mathijssen, R. H.  et al. 2004	15523087				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Journal of the National Cancer Institute. 2004 Nov;96(21):1585-92	Prediction of irinotecan pharmacokinetics by use of cytochrome P450 3A4 phenotyping probes.		191740	23862	2	2004	 CYP3A4 phenotype, as assessed by midazolam clearance, is statistically significantly associated with irinotecan pharmacokinetics. Evaluation of midazolam clearance combined with UGT1A1*28 genotyping may assist with optimization of irinotecan chemotherapy.	Cohort 30 white cancer patients 										
142142		hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Huang, M. J.  et al. 2002	12439228				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Pharmacogenetics. 2002 Nov;12(8):663-6	Coinheritance of variant UDP-glucuronosyl transferase 1A1 gene and glucose-6-phosphate dehydrogenase deficiency in adults with hyperbilirubinemia		191740	23863	2	2002	Our data suggest that pronounced hyperbilirubinemia in G6PD-deficient male adults is attributable to the coinheritance of homozygous variation in the gene.	Cohort 115 adults with unconjugated hyperbilirubinemia 										
142143		hyperbilirubinemia	METABOLIC	MET	Anemia, Hemolytic, Congenital Nonspherocytic|Gilbert Disease|Jaundice, Neonatal|Jaundice	2	2q37	UGT1A1	234191029	234346690		Costa, E.  et al. 2002	12680285				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Acta Med Port. 2002 Nov-Dec;15(6):409-12	[Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]		191740	23864	2	2002	It was not possible to assess the influence of abnormal alleles in the severity of the neonatal hyperbilirubinemia. However, these abnormal alleles did not account for the severity of jaundice in children who presented variants related to CNSHA, since 5 were treated with an exchange transfusion and none presented abnormal alleles.	Cohort 20 children with G6PD deficiency 										
142144		global gene expression	OTHER	OTH	Leukemia, Lymphocytic, Acute	2	2q37	UGT1A1	234191029	234346690		French, D.  et al. 2005	15857854				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Human molecular genetics. 2005 Jun;14(12):1621-9	Global gene expression as a function of germline genetic variation.		191740	23865	2	2005												
142146		hyperbilirubinemia	METABOLIC	MET	Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Huang, C. S.  et al. 2005	15864125				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Pharmacogenetics and genomics. 2005 Jan;15(1):43-50	Genetic factors related to unconjugated hyperbilirubinemia amongst adults.		191740	23867	2	2005	Amongst hyperbilirubinemic adults, bilirubin values tended to parallel variation status of their haplotypes. Adults featuring certain haplotypes in UGT1A1, OATP2 and G6PD genes face a high risk of developing unconjugated hyperbilirubinemia.	Case:227 adults with normal routine haematology and liver function (apart from bilirubin testing for which they revealed bilirubin > or = 25.7 micromol/l and unconjugated bilirubin/total bilirubin > or = 80%);Control:235 sex- and age-matched controls										
142147		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Shatalova, E. G.  et al. 2005	16280036				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Breast cancer research. 2005 ;7(6):R909-21	Genetic polymorphisms in human SULT1A1 and UGT1A1 genes associate with breast tumor characteristics:a case-series study.		191740	23868	2	2005	 The data suggest that genetic variation in SULT1A1 and UGT1A1 may influence breast cancer characteristics and might be important for breast cancer prognosis.											
142149		bilirubin	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Ieiri, I.  et al. 2004	15519273				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Hepatology research. 2004 Oct;30(2):91-95	Influence of common variants in the pharmacokinetic genes (OATP-C, UGT1A1, and MRP2) on serum bilirubin levels in healthy subjects.		191740	25749	2	2004	Large clinical studies are needed to confirm a role of OATP-C in the carrier-mediated uptake of bilirubin in the human liver.	Cohort 23 volunteers 										
142150	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	2	2q37	UGT1A1	234191029	234346690		Kishi, S.  et al. 2003	12969965				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Blood. 2004 Jan;103(1):67-72	Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia.		191740	26737	2	2003	The UGT1A1 6/6 genotype predicted lower catechol AUC. Prednisone strongly induces etoposide clearance, genetic polymorphisms may predict the constitutive and induced clearance of etoposide, and the relationship between genotype and phenotype differs by race.	Cohort children with acute lymphoblastic leukemia 	prednisone									
142151		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Van Der Logt, E. M.  et al. 2004	15319294				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		191740	27326	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
142152		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Cheng, T. C.  et al. 2004	15455371				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		Taiwan	CDC GDPinfo	54658	HS.278896			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		191740	27666	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
142153		mammographic density	OTHER	OTH	Breast Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Haiman, C. A.  et al. 2003	12602902				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Breast cancer research and treatment. 2003 Jan;77(1):27-36	Polymorphisms in steroid hormone pathway genes and mammographic density.		191740	28022	2	2003	Most of the variants in the candidate breast cancer genes evaluated in this study are not strong predictors of breast density. However, our findings of differences in associations for UGT1A1 and AIB1 genotypes with breast density by menopausal status needs additional corroboration.	Cohort 538 women from the Nurses' Health Study 										
142154		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Chowbay, B.  et al. 2005	15931768				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		191740	28023	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
142155		cancer	CANCER	CAN		2	2q37	UGT1A1	234191029	234346690		Mathijssen, R. H.  et al. 2003	12960109				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		191740	28129	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
142156		diabetes, type 2; liver disease	UNKNOWN	UNK	Hepatitis, Toxic|Diabetes Mellitus, Type 2	2	2q37	UGT1A1	234191029	234346690		Watanabe, I.  et al. 2003	12732844				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Japanese	Japan	CDC GDPinfo	54658	HS.278896			Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		191740	28653	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
142157		substrate activity of UDP-glucuronosyltransferase	NORMALVARIATION	NV		2	2q37	UGT1A3	234191029	234346690		Iwai, M.  et al. 2004	14986168				UDP glycosyltransferase 1 family, polypeptide A3				CDC GDPinfo	54659	HS.278896			Journal of human genetics. 2004 ;49(3):123-8	Six novel UDP-glucuronosyltransferase (UGT1A3) polymorphisms with varying activity		606428	14657	2	2004	These polymorphisms are capable of affecting the steady state levels of estrogens, and may increase sensitivity to adverse drug effects.	Cohort 100 healthy Japanese adult vounteers 										
142158		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A3	234191029	234346690		Ehmer, U.  et al. 2004	15057901				UDP glycosyltransferase 1 family, polypeptide A3				CDC GDPinfo	54659	HS.278896			Hepatology (Baltimore, Md). 2004 Apr;39(4):970-7	Variation of hepatic glucuronidation: Novelfunctional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.		606428	23870	2	2004	Two polymorphisms of the hepatic UGT1A4 protein show a differential metabolic activity toward mutagenic amines and endogenous steroids, altering hepatic metabolism and detoxification.	Case:128 patietns with hepatocellular carcinoma;Control:235 blood donors										
142160	Y	left-right laterality defects	OTHER	OTH	Holoprosencephaly|Dextrocardia|Abnormalities, Multiple|Holoprosencephaly|Situs Inversus	2	2q21.1	CFC1	130995136	131002053		Bamford RN et al. 2000	11062482				Cripto, FRL-1, cryptic family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032545.2			KGB	55997	Hs.503733			Nature genetics. 2000 Nov;26(3):365-9	Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.		605194	6905	1	2000	Our findings indicate that the essential role of CFC genes and Nodal signalling in left-right axis formation is conserved from fish to humans											
142161		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	5	5p15.1	ANKH	14762018	14924876		Timms AE 2003	14558096				Ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			KGB	56172	Hs.156727			Arthritis and rheumatism. 2003 Oct;48(10):2898-902	Investigation of the role of ANKH in ankylosing spondylitis.		605145	6904	1	2003	 These findings indicate that ANKH is not significantly involved in susceptibility to or clinical manifestations of AS.											
142162		glucose; diabetes, unspecified	METABOLIC	MET	Diabetes Mellitus	5	5p15.1	AS	14762018	14924876		Ranade, K.  et al. 2001	11687612				Ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027			CDC GDPinfo	56172	Hs.156727			Proceedings of the National Academy of Sciences of the United States of America. 2001 Nov;98(23):13219-24	Genetic variation in aldosterone synthase predicts plasma glucose levels		106300	15338	2	2001	These results suggest a new role for aldosterone in glucose homeostasis.	Cohort a large population of Chinese and Japanese origin 										
142163		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	5	5p15.1	ANKH	14762018	14924876		Shichi, D.  et al. 2005	16101831				ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			CDC GDPinfo	56172	Hs.156727			Tissue antigens. 2005 Sep;66(3):200-8	The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy.		605145	15364	2	2005												
151519	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Stevens, V. L.  et al. 2007	17548676				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1140-7	Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence		607093		CDC	2007			diet									
151345	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	17	17q23.1	MPO	53702215	53713295		Mustea, A.  et al. 2007	17595772				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Caucasian		CDC GDP info	4353	Hs.458272			Anticancer Res    2007    27(3B)    1531-5	The -463G/A polymorphism in myeloperoxidase gene and cervical cancer		606989		CDC	2007												
155542	N	Osteoporosis	AGING	AGE		12	12q12-q14	VDR	46521586	46585081		Aerssens J et al (2000)	11069192				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Belgian older postmenopausal women		Aerssens J	7421	Hs.524368	osteoporotic hip fracture		Osteoporosis International	Polymorphisms of the VDR, ER and COLIA1 genes and osteoporotic hip fracture in elderly postmenopausal women.		601769			2000	In conclusion, despite its limited statistical power the outcome of this study does not support the hypothesis of a major contribution of the VDR, COLIA1 or ER polymorphisms to explain variations in bone mineral density or bone turnover, or to identify elderly women at risk of osteoporotic hip fracture.											
152163		bladder cancer leukemia, myeloid lung cancer	CANCER	CAN	Leukemia, Myeloid|Lung Neoplasms|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Vineis, P. et al.  et al. 2007	17496311				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	European		CDC GDP info	1728	Hs.406515			Ann Oncol    2007	Genetic susceptibility according to three metabolic pathways in cancers of the lung and bladder and in myeloid leukemias in nonsmokers		125860		CDC	2007			smoking (tobacco)									
142169		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	8	8q23-q24.1	SCA16				Brusco, A.  et al. 2004	15148151				spinocerebellar ataxia 16		Italian	Italy	CDC GDPinfo	57043				Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		606364	28359	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142170		mucolipidosis	OTHER	OTH	Mucolipidoses|Genetic Predisposition to Disease	19	19p13.3-p13.2	MCOLN1	7493511	7504863		Bargal, R.  et al. 2001	11317355				Hypothetical protein LOC147791	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020533.1	Jewish		CDC GDPinfo	57192	Hs.631858			Human mutation. 2001 May;17(5):397-402	Mucolipidosis type IV: novel MCOLN1 mutations inJewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.		605248	18201	2	2001	The heterozygotes frequency of about 1/100 of MLIV in the general Jewish Ashkenazi population was estimated in a sample of 2,000	Cohort 2000 anonymous, unrelated individuals from a Jewish Ashkenazi population 										
142171		mucolipidosis	OTHER	OTH	Mucolipidoses	19	19p13.3-p13.2	MCOLN1	7493511	7504863		Edelmann, L.  et al. 2002	11845410				Hypothetical protein LOC147791	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020533.1	Jewish	New York City|Israel	CDC GDPinfo	57192	Hs.631858			American journal of human genetics. 2002 Apr;70(4):1023-7	Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.		605248	18202	2	2002	The addition of both AJ mutations causing this NEUROLOGICALenerative disorder should be considered for prenatal carrier screening in this population.	Cohort 2029 anonymous, unrelated, unaffected AJ individuals greater New York metropolitan area 										
142172		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DL5A				Suzuki, Y.  et al. 2004	15140215				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5			Japan	CDC GDPinfo	57292	HS.512659			The Journal of investigative dermatology. 2004 May;122(5):1133-6	Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris.		605305	22714	2	2004	The increase in KIR2DS1 has also been observed in psoriatic arthritis, another HLA-Cw6-associated disease (Martin et al, 2002). Accordingly, KIR2DS1 may be a common denominator of both diseases.	Control:50 healthy controls;Case:96 Japanese psoriasis vulgaris cases										
142173	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	KIR2DL5A				Moodie, S. J.  et al. 2002	12121272				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5				CDC GDPinfo	57292	HS.512659			European journal of immunogenetics. 2002 Aug;29(4):287-91	Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIRand LILR gene clusters.		605305	26360	2	2002	Case-control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.	Case:132 unrelated UK Caucasian coeliac patients;Control:171 UK Caucasians										
142175		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	16	16q24.3	JPH3	86193999	86289262		Keckarevic, M.  et al. 2005	15876586				Junctophilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020655.2	Serbia and Montenegro	Yugoslavia	CDC GDPinfo	57338	Hs.592068			Journal of genetics. 2005 Apr;84(1):69-71	JP-3 gene polymorphism in a healthy population of Serbia and Montenegro		605268	12066	2	2005	Results show that the distribution of JP-3 alleles in population of Serbia and Montenegro is consistent with distributions in other analysed populations. The absence of alleles with more then 18 CTG repeats suggests that HDL-2 is very rare in the populations of Serbia and Montenegro.	Cohort 198 unrelated subjects Serbia and Montenegro 										
142176		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	16	16q24.3	JPH3	86193999	86289262		Stevanin, G.  et al. 2003	12805114				Junctophilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020655.2			CDC GDPinfo	57338	Hs.592068			Brain. 2003 Jul;126(Pt 7):1599-603	Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.		605268	19760	2	2003	Further genetic heterogeneity of the HDL phenotype therefore exists.	Cohort 252 patients with a Huntington's disease-like (HDL) phenotype, including 60 with typical Huntington's disease, who had tested negative for pathological expansions in the IT15 gene 										
142178	Y	micropenis	OTHER	OTH		5		AHRR	357291	491405		Fujita H et al. 2002	11835227				aryl-hydrocarbon receptor repressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB033060			KGB	57491	Hs.50823			Teratology. 2002 Jan;65(1):8-Oct	Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.		606517	6792	1	2002	 Homozygosity for the 185Pro allele of AHRR may increase the susceptibility of a fetus to the undermasculinizing effects of dioxin exposure in utero, presumably through the diminished inhibition of AHR-mediated signaling.											
142179	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	22	22q13.1-q13.2	APOBEC3G	37803081	37813694		An, P.  et al. 2004	15452227				Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092614		United States|Europe	CDC GDPinfo	60489	Hs.474853			Journal of virology. 2004 Oct;78(20):11070-6	APOBEC3G genetic variants and their influence on the progression to AIDS.		607113	15248	2	2004	These studies suggest that there may be a modifying role of variants of APOBEC3G on HIV-1 disease progression that warrants further investigation.	Cohort 3.073 participants enrolled in six HIV-AIDS prospective cohorts 										
142181		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	3	3q21	PSORS5				Alenius, G. M.  et al. 2004	15517637				psoriasis susceptibility 5				CDC GDPinfo	63870				The Journal of rheumatology. 2004 Nov;31(11):2230-5	Analysis of 6 genetic loci for disease susceptibility in psoriatic arthritis.		604316	25474	2	2004	 We identified an association between psoriatic arthritis and one of the microsatellite markers within the TNFB locus at the HLA region on chromosome 6. Linkage disequilibrium between TNFB123 and certain HLA-B antigens was found.	Case:120 patients with psoriasis and defined joint disease:Sweden;Control:94 controls with the same ethnic background as the patients from the same region as the cases										
142182	Y	Usher syndrome	VISION	VIS	Abnormalities, Multiple|Syndrome	10	10q21-q22	CDH23	72826696	73245659		Ouyang, X. M.  et al. 2005	15660226				Cadherin-like 23	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022124.2			CDC GDPinfo	64072	Hs.568788			Human genetics. 2005 Mar;116(4):292-9	Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population		605516	18852	2	2005	The present study suggests that mutations in MYO7A and CDH23 are the two major components of causes for USH1, while PCDH15, USH1C, and SANS are less frequent causes.	Cohort Usher syndrome type I patients US and UK 										
142183		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	21	21q22.3	COL18A1	45649524	45758062		Ortega, M. M.  et al. 2003	12479859				Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2		Brazil	CDC GDPinfo	80781	Hs.517356			Leukemia research. 2003 Jan;27(1):93-4	A polymorphism in the angiogenesis inhibitor, endostatin, in multiple myeloma.		120328	9438	2	2003	In conclusion, our results present preliminary evidence that the D104N polymorphism of the COL18A1 gene may be an unimportant determinant of the MM susceptibility.	Control:300:controls;Case:55 multiple myeloma patients										
142185	N	leukemia	CANCER	CAN	Leukemia	21	21q22.3	COL18A1	45649524	45758062		Liu, T. C.  et al. 2003	12693719				Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2			CDC GDPinfo	80781	Hs.517356			The Kaohsiung journal of medical sciences. 2003 Jan;19(1):5-Jan	Assocation of endostatin D104N with leukemia.		120328	15852	2	2003	Similar frequencies of endostatin polymorphisms were observed in leukemic patients and normal controls. This suggests that the endostatin polymorphism is not associated with the risk of leukemia.	Case:126/57/91 patients with acute myeloid leukemia (n=126), with chronic myeloid leukemia (n=57), and with acute lymphocytic leukemia (n=91);Control:178 normal controls										
142186		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasms, Hormone-Dependent|Neovascularization, Pathologic	21	21q22.3	COL18A1	45649524	45758062		Macpherson, G. R.  et al. 2004	15662127				Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2			CDC GDPinfo	80781	Hs.517356			Cancer biology & therapy. 2004 Dec;3(12):1298-303	Genotyping and functional analysis of the D104N variant of human endostatin.		120328	15853	2	2004	We concluded that the D104N variation in human endostatin is neither clinically relevant nor suitable as a pharmacogenomic endpoint to assess the risk for developing AIPC.	Control:352 normal control individuals;Case:389 patients with androgen independent prostate cancer										
142187	Y	hearing loss/deafness	OTHER	OTH	Hearing Loss	1	1p36.31-p36.11	ESPN	6407434	6443591		Donaudy, F.  et al. 2005	15930085				Espin pseudogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031475.1			CDC GDPinfo	83715	Hs.147953			Journal of medical genetics. 2006 Feb;43(2):157-61	Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organization.		606351	16537	2	2005	 The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.	Cohort 450 hearing impaired subjects 										
142188			REPRODUCTION	REP		19	19q13.32	CGB5	54238913	54240380		Jiang, M.  et al. 2004	15299093				Chorionic gonadotropin, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000737			CDC GDPinfo	93659	Hs.558590			Molecular human reproduction. 2004 Oct;10(10):763-6	Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations		608825	15782	2	2004	Hence, the naturally occurring variant (Val(79)Met) of the hCGbeta gene 5, found previously at high frequency in the US, is clearly less common, or absent, in the European populations studied.	Cohort 580 DNA samples from five European populations Finland, Denmark, Greece, Germany and the UK 										
142189		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	7	7q31-q32	SCA18				Brusco, A.  et al. 2004	15148151				spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)		Italian	Italy	CDC GDPinfo	94008				Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		607458	28397	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142190	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease	1	1p36	PINK1	20832534	20850591		Healy, D. G.  et al. 2004	15349859				Parkinson disease (autosomal recessive) 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Annals of neurology. 2004 Sep;56(3):329-35	The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism		608309	18833	2	2004	Genotyping these tags in a set of 576 Parkinson's disease patients and 514 controls did not demonstrate a case-control partition for allele or for haplotype and thus provides evidence against the existence of a common functional variants in PINK1 that has a strong influence on PD risk.	Control:514:controls;Case:576 Parkinson's disease patients										
142191		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.42	KIR3DL3	59927795	60001550		Arnheim, L.  et al. 2005	15730517				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3				CDC GDPinfo	115653	Hs.278457			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		610095	27957	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
142192		rheumatoid arthritis; preeclampsia; psoriasis; celiac disease; cervical cancer; psoriatic arthritis	CANCER	CAN		19	19q13.42	KIR3DL3	59927795	60001550		Jiang, K.  et al. 2005	15896204				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3		Chinese		CDC GDPinfo	115653	Hs.278457			Tissue antigens. 2005 Jun;65(6):556-63	Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population.		610095	28341	2	2005	Our data demonstrated that the Chinese Han population is distinct in KIR gene frequencies and putative KIR haplotypes in comparison to some other populations.	Cohort 104 healthy unrelated Chinese Han individuals 										
142194	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	2	2q31.1	CMYA3	167453243	167824507		Blasi, F.  et al. 2005	16205742			coding sequence	cardiomyopathy associated 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152381.3			CDC GDPinfo	129446	HS.73680			European journal of human genetics. 2006 Jan;14(1):123-6	SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.	3749004	609778	15833	2	2005												
142195	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting	11	11q12.2	CNTF	58146720	58149778		Giess, R.  et al. 2002	11890844				Cardiomyopathy associated 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	129446	Hs.632114			Archives of neurology. 2002 Mar;59(3):407-9	Association of a null mutation in the CNTF gene with early onset of multiple sclerosis.		118945	15845	2	2002	 These results suggest that CNTF contributes to time and site of early clinical manifestation. The frequency of patients with MS with a homozygous CNTF null mutation in this population was not higher than in control groups, indicating that the CNTF null mutation is not a risk factor for development of MS.	Cohort 288 unselected patients with multiple sclerosis (MS) (mean age, 40.2 plus minus 10.2 years; range, 18-71 years) 										
142196	Y	leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6q26	PACRG	163068153	163656514		Mira MT 2004	14737177				PARK2 co-regulated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152410.1		Brazil|Vietnam	KGB	135138	Hs.25791			Nature. 2004 Feb;427(6975):636-40	Susceptibility to leprosy is associated with PARK2 and PACRG.		608427	6979	1	2004	Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.	Control:controls;Case Leprosy cases:Brazil										
142197		leprosy	INFECTION	INF		6	6q26	PACRG	163068153	163656514			16391553				PARK2 co-regulated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152410.1	Indian		CDC GDPinfo	135138	Hs.25791			European journal of human genetics. 2005	Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population		608427	13046	2	2005												
142199	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q26	PACRG	163068153	163656514		Deng, H.  et al. 2005	15925106				PARK2 co-regulated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152410.1			CDC GDPinfo	135138	Hs.25791			Neuroscience letters. 2005 Jul;382(3):297-9	Genetic analysis of parkin co-regulated gene (PACRG) in patients with early-onset parkinsonism.		608427	18795	2	2005	Since none of these variations appear to be pathogenically relevant, our results suggest that mutation of PACRG plays little or no role in the development of EOP.	Cohort 112 patients with early-onset parkinsonism 										
142201		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	1	1p21-q21	SCA19				Brusco, A.  et al. 2004	15148151				spinocerebellar ataxia 19		Italian	Italy	CDC GDPinfo	140452				Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		607346	28423	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142202		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	1	1p21-q23	SCA22				Brusco, A.  et al. 2004	15148151				spinocerebellar ataxia 22		Italian	Italy	CDC GDPinfo	140575				Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.			28472	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142204		platelet aggregation; coagulation	HEMATOLOGICAL	HEM	Coronary Disease	5	5q13	PAR1	22931881	22934295		Smith, S. M.  et al. 2005	16194864				Prader-Willi/Angelman region-1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001992			CDC GDPinfo	145624	Hs.612027			Platelets. 2005 Sep;16(6):340-5	PAR-1 genotype influences platelet aggregation and procoagulant responses in patients with coronary artery disease prior to and during clopidogrel therapy.		187930	18816	2	2005	We conclude that  a common sequence variation within the PAR-1 gene influences TRAP-induced platelet procoagulant activity as well as aggregation. Higher platelet reactivity associated with PAR-1 IVSn-14 A allele homozygotes persists despite clopidogrel therapy. These individuals may be at higher risk of thromboembolic events and may require additional anti-platelet medication.		clopidogrel									
142205		dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	15	15q21.3	DYX1C1	53497245	53587724		Marino, C.  et al. 2005	15702132				Dyslexia susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130810			CDC GDPinfo	161582	Hs.126403			European journal of human genetics. 2005 Apr;13(4):491-9	A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.		608706	16451	2	2005												
142206	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia	15	15q21.3	DYX1C1	53497245	53587724		Bellini, G.  et al. 2005	16280601				Dyslexia susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130810	Italian	Finland|Italy	CDC GDPinfo	161582	Hs.126403			Journal of molecular neuroscience. 2005 ;27(3):311-4	No Evidence for Association Between Dyslexia and DYX1C1 Functional Variants in a Group of Children and Adolescents From Southern Italy.		608706	16452	2	2005												
142207		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	7		SCA21				Brusco, A.  et al. 2004	15148151				spinocerebellar ataxia 21		Italian	Italy	CDC GDPinfo	170545				Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		607454	28452	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142208		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSORS1C3				Holm, S. J.  et al. 2005	15848982				psoriasis susceptibility 1 candidate 3		Swedish	Sweden	CDC GDPinfo	170681				Acta dermato-venereologica. 2005 ;85(1):8-Feb	HLA-Cw*0602 associates more strongly to psoriasis in the Swedish population than variants of the novel 6p21.3 gene PSORS1C3.			23307	2	2005												
142209		Parkinson's disease	NEUROLOGICAL	NEUR	Muscle Rigidity|Parkinson Disease|Tremor	12	12p11.2-q13.1	LRRK2	38905080	39049353		Aasly, J. O.  et al. 2005	15852371				leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Norway	CDC GDPinfo	120892	Hs.187636			Annals of neurology. 2005 May;57(5):762-5	Clinical features of LRRK2-associated Parkinson's disease in central Norway.		609007	23206	2	2005												
142210	Y	Progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	17	17q21.1	STH	41432482	41432869	0.000004-0.000009	de Silva et al., 2003	12913211	Glutamine (Q) variant of a Glutamine-Arginine (Q7R) missense polymorphism	Unknown	coding sequence	saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY179170	European/Caucasian	Europe	Dr Rohan de Silva	246744	Hs.569810			Neurology. 2003 Aug;61(3):407-9	Strong association of the Saitohin gene Q7 variant with Progressive Supranuclear Palsy		607067	6866	1	2003		Case:49; Control:62										
142212	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	STH	41432482	41432869		Seripa, D.  et al. 2004	15136700				saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY179170		Wisconsin|Italy	CDC GDPinfo	246744				Neurology. 2004 May;62(9):1631-3	Alzheimer disease risk associated with APOE4 is modified by STH gene polymorphism.		607067	23563	2	2004	The STH-G allele appears to be a risk modifier for AD.	Cohort distinct groups of Alzheimer's patients from US and Italy 										
142213		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease			TRG@				Polvi A et al. 2002	12357338				T cell receptor, gamma cluster				KGB	281523				European journal of human genetics. 2002 Oct;10(10):658-65	Physical map of an asthma susceptibility locus in 7p15-p14 and an association study of TCRG.		186970	6869	1	2002												
142214		T-cell non-Hodgkin's lymphomas	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, T-Cell			TRG@				Garcia MJ et al. 2001	11385314				T cell receptor, gamma cluster				KGB	281523				Diagnostic molecular pathology. 2001 Jun;10(2):69-77	IgH TCR-gamma and TCR-beta gene rearrangement in 80 B- and T-cell non-Hodgkin's lymphomas: study of the association between proliferation and the so-called aberrant patterns.			6870	1	2001												
142215	Y	birth weight; cord blood IGF-II levels	REPRODUCTION	REP	Birth Weight	11	11p15.5	H19	1972984	1975280		Petry, C. J.  et al. 2005	15885138				H19, imprinted maternally expressed untranslated mRNA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002046.3			CDC GDPinfo	283120	Hs.533566			BMC genetics [electronic resource]. 2005 May;6(1):22	Common polymorphism in H19 associated with birthweight and cord blood IGF-II levels in humans.		103280	11000	2	2005	 The common H19 2992T allele, in the mother or offspring or both, may confer reduced fetal growth restraint, as indicated by associations with larger offspring birth size, higher cord blood IGF-II levels, and lower compensatory early postnatal catch-up weight gain, that are more evident among mother's smaller first-born infants.	Cohort 1,696/822/661 children (n=1,696), mothers (n=822) and fathers (n=661) from the contemporary ALSPAC UK birth cohort 										
142216		myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Prevost, C.  et al. 2004	15039975				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			American journal of medical genetics Part A. 2004 Apr;126(1):68-77	Psychosocial impact of predictive testing for myotonic dystrophy type 1.		605377	16337	2	2004	Predictive testing for individuals at-risk of DM1 can be offered safely within a well-organized clinical and genetic counseling program that includes careful pre-test counseling, pre-test clinical assessment, post-test psychological support, and follow-up for those identified as carriers.	Cohort 308 participants (44 carriers and 264 non-carriers) receiving predictive testing for myotonic dystrophy type 1 										
142217		myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Logigian, E. L.  et al. 2004	15079005				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDPinfo	1760	Hs.631596			Neurology. 2004 Apr;62(7):1081-9	Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1		605377	16338	2	2004	 In DM1, myotonia of intrinsic hand muscles can be quantitated reliably by automated analysis of tetanic and twitch RT, targeting, in particular, the terminal phase of muscle relaxation after tetanic stimulation. Severity of hand muscle myotonia depends on CTG repeat length consistent with a triplet repeat dosage effect on chloride channel mRNA splicing and function.	Case:15 patients with genetically confirmed DM1;Control:15 control subjects										
142218		cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Alfadhli, S.  et al. 2004	15210527				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3		Kuwait	CDC GDPinfo	1760	Hs.631596			Archives of neurology. 2004 Jun;61(6):895-8	CTG repeat number at the myotonic dystrophy locus in healthy Kuwaiti individuals: possibleexplanation of why myotonic dystrophy is rare in Kuwait		605377	16339	2	2004	 These data may explain the rare occurrence of myotonic dystrophy in the Kuwaiti population. Further study of healthy families within the high-normal repeat range is in progress to investigate the possible instability of the (CTG)(>18) alleles in our area.	Cohort 185 healthy Kuwaiti individuals representing 5 Kuwaiti provinces Kuwait 										
142219		celiac disease; colitis	IMMUNE	IMM	Colitis, Microscopic|Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Fernandez-Banares, F.  et al. 2005	16292086				HLA-16 pseudogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			European journal of gastroenterology & hepatology. 2005 Dec;17(12):1333-8	Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitis.		604305	17156	2	2005	 The results suggest that there is an association of lymphocytic colitis with HLA-DQ2 genes, which might be relevant in the pathogenesis of this disease. The association of microscopic colitis with Marsh type III coeliac disease seems to be rare, making it unnecessary to routinely screen for coeliac disease in microscopic colitis patients.											
142222	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875	0.0004	Bohren KM 2004	15123604	M55V		coding sequence	SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			Y Wang	387082	Hs.269775			The Journal of biological chemistry. 2004 Jun;279(26):27233-8	A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus.		608829	6872	1	2004												
142223	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875	0.48	Qu H, et al. 2005 doi:10.1038/ng0205-111	15678135	M55V		coding sequence	SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	European Canadian	United States	Constantin Polychronakos	387082	Hs.269775	Type 1 Diabetes		Nature genetics. 2005 Feb;37(2):111-2; author repl	Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes		608829	6873	1	2005	We have failed to replicate the previously reported association of type 1 diabetes with this locus, despite sufficient power even after stratification for within-Europe ethinic differences.	Case:1,188 nuclear family trios										
142225	N	rheumatoid arthritis; juvenile arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Gibbons, L. J.  et al. 2005	16159953				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			CDC GDPinfo	387082	Hs.269775			Rheumatology (Oxford, England). 2005 Nov;44(11):1390-3	The type 1 diabetes susceptibility gene SUMO4 at IDDM5 is not associated with susceptibility to rheumatoid arthritis or juvenile idiopathic arthritis.		608829	19738	2	2005	 The M55V substitution in the SUMO4 gene is not associated with susceptibility to RA or JIA in the UK population studied. However, other candidate genes mapping within IDDM5 remain to be investigated.											
142226		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Orozco, G.  et al. 2005	16249223				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			CDC GDPinfo	387082	Hs.269775			Annals of the rheumatic diseases. 2005	Study of the role of functional variants of SLC22A4, RUNX1and SUMO4 in systemic lupus erythematosus.		608829	25608	2	2005	 These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.											
142227	N	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822	n	Kuschel B 2003	12917215				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			KGB	11200	Hs.291363			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):809-12	Common polymorphisms in checkpoint kinase 2 are not associated with breast cancer risk.		604373	6876	1	2003	We conclude that  the CHEK2 polymorphisms IVS + 1a and a1013g do not confer an increased risk of breast cancer. It is also unlikely that other, as yet unidentified, common polymorphisms that affect risk are present in the gene in the British population.	Case:1,786 breast cancer cases:UK;Control:1,828:controls										
142228		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Osorio A 2003	14618615				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Spanish	Spain	KGB	11200	Hs.291363			International journal of cancer. Journal international du cancer. 2004 Jan;108(1):54-6	The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population.		604373	6877	1	2003												
146550	Y	amlodipine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Kim, K. A.  et al. 2006	17178265	CYP3A5*3/*3 carriers exhibited lower plasma amlodipine concentrations than CYP3A5*1 carriers			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Korean		CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    80(6)    646-656	Effect of CYP3A5*3 genotype on the pharmacokinetics and pharmacodynamics of amlodipine in healthy Korean subjects		605325		CDC	2006	CYP3A5*3/*3 carriers exhibited lower plasma amlodipine concentrations than CYP3A5*1 carriers. These findings suggest that the polymorphic CYP3A5 gene affects the disposition of amlodipine and provides a plausible explanation for interindividual variability in amlodipine disposition.											
146626	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q34.1	DAPK1	89302477	89513369		Li, Y.  et al. 2006	16847012				Death-associated protein kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004938.2			CDC GDP info	1612	Hs.380277			Hum Mol Genet    2006	DAPK1 variants are associated with Alzheimer's disease and allele-specific expression		600831		CDC	2006												
142232	Y	autoimmune myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	2	2q24-q32	CHRNA1	175320568	175337427		Heckmann JM et al. 1996	8738961			other	CHRNA1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000079.2	South African and caucasian		KGB	1134	Hs.434479			Journal of autoimmunity. 1996 Apr;9(2):175-80	Human muscle acetylcholine receptor alpha-subunit gene (CHRNA1) association with autoimmune myasthenia gravis in black mixed-ancestry and Caucasian subjects.		100690	7577	1	1996	Our results suggest that the CHRNA1 locus harbours a minor susceptibility gene for developing MG, though we cannot rule out linkage disequilibrium with another major gene locus on chromosome 2.											
148853	Y	cervical cancer	CANCER	CAN	Carcinoma|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Saito, M.  et al. 2007	17433060				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Gynecol Cancer    2007	Association of human leukocyte antigen and T cell message with human papillomavirus 16-positive cervical neoplasia in Japanese women		604305		CDC	2007												
148880		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Thomson, G. et al.  et al. 2007	17610416				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    70(2)    110-27	Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes		604305		CDC	2007												
148888	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Planelles, D.  et al. 2006	16433795				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Br J Dermatol    2006    154(2)    261-6	HLA class II polymorphisms in Spanish melanoma patients		142857		CDC	2006	Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population.		hair color									
142239	Y	serum low density lipoprotein	METABOLIC	MET				AI/CIII				Aalto-Setala K et al. 1991	1684378								KGB					Journal of lipid research. 1991 Sep;32(9):1477-87	DNA polymorphisms of the apolipoprotein B and A-I/C-III genes are associated with variations of serum low density lipoprotein cholesterol level in childhood.			7584	1	1991												
148778		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Granados, J.  et al. 2006	16875346				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian;Mexican		CDC GDP info	3119	Hs.409934			Gac Med Mex    2006    142(3)    195-9	Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population		604305		CDC	2006												
148831		nasal polyps	OTHER	OTH	Nasal Polyps	6	6p21.3	HLA-DQB1	32735641	32742374		Zhai, L.  et al. 2007	17305280				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Ann Otol Rhinol Laryngol    2007    116(1)    66-8	Polymorphism between loci for human leukocyte antigens DR and DQ in patients with nasal polyps		604305		CDC	2007	We conclude that HLA-DR16, HLA-DQ8, and HLA-DQ9 represent potential susceptibility determinants and that HLA-DQ7 might confer resistance in nasal polyps.											
148730			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Moscoso, J.  et al. 2006	16337001				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish;Indian;Peruvian;Asian		CDC GDP info	3119	Hs.409934			Mol Immunol    2006    43(11)    1881-9	HLA genes in Lamas Peruvian-Amazonian Amerindians		604305		CDC	2006												
148770		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Torn, C.  et al. 2006	16829307				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(7)    527-34	Polymorphisms of TNF microsatellite marker a and HLA-DR-DQ in diabetes mellitus-a study in 609 Swedish subjects		604305		CDC	2006												
142248	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	19	19p13.2-p13.1	CACNA1A	13179114	13478317		Sander T et al. 2002	12049805				Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000068.2			KGB	773	Hs.590993			Epilepsy research. 2002 Apr;49(2):173-7	Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.		601011	7594	1	2002	Accordingly, we failed to confirm previous evidence that genetic variation of the CACNA1A gene confers susceptibility to common IGE syndromes.	Case:118 idiopathic generalized epilepsy patients;Control:186 healthy German control subjects										
149338	Y	renal scarring urinary tract infection	RENAL	REN	Urinary Tract Infections	19	19p13.3-p13.2	ICAM1	10242778	10258291			16426244				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Int J Immunogenet    2006    33(1)    49-53	Association between ICAM-1 Gly-Arg polymorphism and renal parenchymal scarring following childhood urinary tract infection		147840		CDC	2006												
142251	Y	myeloblastic leukemias	CANCER	CAN	Leukemia, Myeloid, Acute	21	21q22.3	RUNX1	35081967	36278917		Osato M et al. 1999	10068652				runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			KGB	861	Hs.149261			Blood. 1999 Mar;93(6):1817-24	Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias.		151385	7599	1	1999	The biallelic nonsense mutants encoding truncated AML1 proteins lost almost all functions examined and may play a role in leukemogenesis leading to acute myeloblastic leukemia.											
142253		cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease			APO				Vasisht S et al. 2000	10893891							India	KGB					Indian heart journal. 2000 Mar-Apr;52(2):165-70	Apolipoprotein(a) polymorphism and its association with plasma lipoprotein(a) levels: a north Indian study.			7601	1	2000												
149410	Y	Graves' disease Hashimoto's thryoiditis	IMMUNE	IMM	Graves Disease|Hashimoto Disease	12	12q14	IFNG	66834816	66839788		Ito, C.  et al. 2006	16820703				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Endocr J    2006	Association between the Severity of Hashimoto's Disease and the Functional +874A/T Polymorphism in the Interferon-gamma Gene		147570		CDC	2006												
142257	Y	plasma lipoprotein(a) levels	METABOLIC	MET				APOA				Kikuchi S et al. 1993	8262512						Japanese		KGB					Human genetics. 1993 Dec;92(6):537-44	High degree of genetic polymorphism in apolipoprotein(a) associated with plasma lipoprotein(a) levels in Japanese and Chinese populations.			7606	1	1993												
142258	Y	apolipoprotein[a] null allele	OTHER	OTH				APOA				Cox LA et al. 1998	9684734			splice variant					KGB					Journal of lipid research. 1998 Jul;39(7):1319-26	Molecular basis of an apolipoprotein[a] null allele: a splice site mutation is associated with deletion of a single exon.			7607	1	1998												
142259	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Arteriosclerosis|Disease Susceptibility			APOA				Amemiya H et al. 1996	8782849							Japan	KGB					Atherosclerosis. 1996 Jun;123(2-Jan):181-91	Apolipoprotein(a) and pentanucleotide repeat polymorphisms are associated with the degree of atherosclerosis in coronary heart disease.			7608	1	1996												
142260	Y	specific levels of Lp(a) in plasma	OTHER	OTH				APOA				Mooser V et al. 1995	7757064								KGB					Human molecular genetics. 1995 Feb;4(2):173-81	Sequence polymorphisms in the apo(a) gene associated with specific levels of Lp(a) in plasma.			7609	1	1995												
142262		lipoprotein (a) concentration	METABOLIC	MET	Arteriosclerosis			APOA				Prins J et al. 1999	10613659								KGB					Thrombosis and haemostasis. 1999 Dec;82(6):1709-17	The identification of polymorphisms in the coding region of the apolipoprotein (a) gene--association with earlier identified polymorphic sites and influence on the lipoprotein (a) concentration.			7611	1	1999												
142263	Y	lipoprotein(a) concentration	METABOLIC	MET	Chronic Disease			APOA				Tanaka M et al. 1999	10095177								KGB			chronic hemodialysis patients		Nephron. 1999 ;81(4):414-20	Pentanucleotide repeat and size polymorphisms in the apolipoprotein(a) gene are associated with the lipoprotein(a) concentration in chronic hemodialysis patients.			7612	1	1999												
142265		myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease|			APOA				Brazier L et al. 1999	10407493							France|Northern Ireland	KGB					Atherosclerosis. 1999 Jun;144(2):323-33	Sequence polymorphisms in the apolipoprotein(a) gene and their association with lipoprotein(a) levels and myocardial infarction. The ECTIM Study.			7614	1	1999	We conclude that  the increase of Lp(a) levels observed in MI cases, and which was not directly attributable to apo(a) size variation, was not related to the five polymorphisms of the apo(a) gene considered.											
142266	Y	Lp(a) levels	METABOLIC	MET	Coronary Disease			APOA				Hong SH et al. 1998	9856341						Korean	Korea	KGB					Molecules and cells. 1998 Oct;8(5):544-9	Association between apolipoprotein(a) polymorphism and Lp(a) levels in Koreans.			7615	1	1998												
142267		high density lipoprotein.	OTHER	OTH		11	11q23-q24	APOA1	116211678	116213548		Laccotripe M et al. 1997	9211897					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194	rate of phospholipid binding		The Journal of biological chemistry. 1997 Jul;272(28):17511-22	The carboxyl-terminal hydrophobic residues of apolipoprotein A-I affect its rate of phospholipid binding and its association with high density lipoprotein.		107680	7616	1	1997												
148599	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Brick, C.  et al. 2007	17306585				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	French;Italian;Moroccan;Portuguese;Sardinian;Tunisian		CDC GDP info	3106	Hs.77961			Transfus Clin Biol    2007	HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population		142830		CDC	2007	Our results confirm and extend the current knowledge about the Moroccan genetic pattern and reflect all the ethnic diversity of the country.											
148499	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	3	3q28-q29	HES1	195336627	195339090		Brookes, K. et al  et al. 2006	16894395				Hairy and enhancer of split 1, (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005524			CDC GDP info	3280	Hs.250666			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder				CDC	2006												
148538		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Reinders, J.  et al. 2006	16857416				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Oral Oncol    2006	HLA and MICA associations with head and neck squamous cell carcinoma		142800		CDC	2006												
148585		hepatitis B	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Kim, J. H.  et al. 2006	16890179				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		142830		CDC	2006												
142275	Y	deep venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis	17	17q12	AT1R				Fatini C et al. 1999	10670188	C1166							KGB					Minerva cardioangiologica. 1999 Dec;47(12):530	The C1166 allele of the AT1R gene associated with ACE DD phenotype increases the risk for deep venous thrombosis trans L'allele C1166 del gene AT1R associato al genotipo ACE DD aumenta il rischio di trombosi venosa profonda.			7624	1	1999												
150147		aseptic loosening post hip replacement osteolysis	METABOLIC	MET	Prosthesis-Related Infections|Osteolysis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Malik, M. H.  et al. 2007	17363400				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Caucasian		CDC GDP info	3569	Hs.512234			Ann Rheum Dis    2007	Genetic susceptibility to total hip replacement failure- Preliminary study on the influence of matrix metalloproteinase-1, interleukin-6 and vitamin D receptor polymorphisms		147620		CDC	2007	Aseptic loosening and possibly deep infection of THR may be due to the genetic influence of candidate susceptibility genes.											
150341	N	coronary artery stent thrombosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Coronary Thrombosis|Acute Disease|Genetic Predisposition to Disease|Prosthesis Failure	17	17q21.32	ITGA2B	39805075	39822399		Sucker, C.  et al. 2007	17346829				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Int J Cardiol    2007	No evidence for involvement of prothrombotic platelet receptor polymorphisms in acute coronary stent thrombosis		607759		CDC	2007												
150100			NORMALVARIATION	NV		7	7p21	IL6	22733322	22738141		Bagheri, M.  et al. 2006	16734562				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3569	Hs.512234			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147620		CDC	2006												
148332	N	brain cancer	CANCER	CAN	Brain Neoplasms	11	11q13	GSTP1	67107861	67110699		Schwartzbaum, J. A.  et al. 2007	17372252				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		Finland|England|Denmark|Sweden	CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		134660		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
148449	N	cerebral malaria	CARDIOVASCULAR	CARD	Malaria, Cerebral|Malaria, Falciparum|Genetic Predisposition to Disease	4	4q28.2-q31.1	GYPA	145136706	145281294		Naka, I.  et al. 2007	17372674				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3	Thai		CDC GDP info	2993	Hs.434973			J Hum Genet    2007	The genotypes of GYPA and GYPB carrying the MNSs antigens are not associated with cerebral malaria		111300		CDC	2007	the MNSs antigens do not reveal the difference in susceptibility to cerebral malaria.											
148481	Y	iron levels	METABOLIC	MET	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Iron Overload|Disease Progression|Genetic Predisposition to Disease	11	11p15.5	HBB	5203271	5204877		Sartori, M.  et al. 2006	17135308				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDP info	3043	Hs.523443			Gut    2006	Heterozygous {beta} -globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis c		141900		CDC	2006	Heterozygosis for beta-globin mutations is a novel risk factor for both hepatic iron accumulation and the progression to fibrosis in patients with CHC.											
148167		isothiocyanates	PHARMACOGENOMIC	PHARM		6	6p12.1	GSTA1	52764346	52776616		Steck, S. E.  et al. 2007	17374652				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			J Nutr    2007    137(4)    904-909	GSTM1, GSTT1, GSTP1, and GSTA1 Polymorphisms and Urinary Isothiocyanate Metabolites following Broccoli Consumption in Humans		138359		CDC	2007												
148226	Y	GSTM1 methylation infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Dhillon, V. S.  et al. 2007	17277043				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Mol Hum Reprod    2007	Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men		138350		CDC	2007			folate									
148256	N	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ruzzo, A.  et al. 2007	17617021				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		138350		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
147828			NORMALVARIATION	NV		19	19q13.3	FUT2	53891049	53901019		Hamajima, N.  et al. 2002	12164325				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDP info	2524	Hs.579928			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		182100		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
147917	Y	P1 blood group	HEMATOLOGICAL	HEM		9	9p13	GALT	34636634	34640573		Tilley, L.  et al. 2006	16507021	A4GALT-551_-550insC and -160G		5' untranslated region	Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDP info	2592	Hs.522090			Vox Sang    2006    90(3)    198-203	Sequence variation in the 5' untranslated region of the human A4GALT gene is associated with, but does not define, the P1 blood-group polymorphism		606999		CDC	2006	Homozygosity for the A4GALT-551_-550insC and -160G allele is significantly associated with, but not restricted to, the P1- phenotype. No single A4GALT genotype or haplotype was unique to P1- individuals. Thus, A4GALT cannot be unequivocally confirmed as the gene responsible for the P1 phenotype.											
142295	Y	CP infection.	CARDIOVASCULAR	CARD	Chlamydophila Infections|Coronary Arteriosclerosis			Cytokine				Auer J et al. 2002	11869867								KGB					Journal of the American College of Cardiology. 2002 Mar;39(5):918-9	Cytokine gene polymorphisms and development of CAD associated with CP infection.			7649	1	2002												
142297		infertility	REPRODUCTION	REP	Infertility, Male|Cryptorchidism			DAZ				Ferlin A 2004	15066457								KGB					Fertility and sterility. 2004 Apr;81(4):1013-8	Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility.		400003	7651	1	2004												
142298	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1			DM				Djilali-Saiah I et al. 1996	8839772								KGB					Human immunology. 1996 Aug;49(1):22-7	Absence of primary association between DM gene polymorphism and insulin-dependent diabetes mellitus or celiac disease.		605377	7652	1	1996												
148681			NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Farjadian, S.  et al. 2006	16712649				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Int J Immunogenet    2006    33(3)    185-91	HLA class II gene polymorphism in Parsees and Zoroastrians of Iran		146880		CDC	2006												
148722		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-DQA1	32713160	32722817		Douroudis, K.  et al. 2007	17498269				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Greek		CDC GDP info	3117	Hs.387679			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		146880		CDC	2007												
147645		bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Weisenseel, P.  et al. 2007	17457599				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		CDC GDP info	2214	Hs.372679			Arch Dermatol Res    2007	Relevance of the low-affinity type of the Fcgamma-receptor IIIa-polymorphism in bullous pemphigoid		146740		CDC	2007												
147692		cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction	4	4q28	FGB	155703595	155711688			16409729				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Zhonghua Nei Ke Za Zhi    2005    44(12)    914-7	The relationship between the five beta-fibrinogen gene polymorphisms and cerebral infarction.		134830		CDC	2005	Cerebral infarction is a multifactorial disease and an increased Fg level is a risk factor for cerebral infarction.											
147773	P		NORMALVARIATION	NV		1	1q23-q25	FMO3	169326659	169353583		Hao, D.  et al. 2006	16598836				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDP info	2328	Hs.445350			Cell Biochem Funct    2006	Allele and genotype frequencies of polymorphic FMO3 gene in two genetically distinct populations		136132		CDC	2006												
147486		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Smith, N. L.  et al. 2007	17284699				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			JAMA    2007    297(5)    489-98	Association of genetic variations with nonfatal venous thrombosis in postmenopausal women		227400		CDC	2007	After accounting for multiple testing, 5 SNPs associated with VT risk were identified, 3 of which have not been previously reported.											
147503		factor VII coagulant activity	CARDIOVASCULAR	CARD	Cardiovascular Diseases	13	13q34	F7	112808105	112822996			16532678				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Tunisian	Tunisia	CDC GDP info	2155	Hs.36989			East Mediterr Health J    2005    11(1-2)    102-8	Factor VII polymorphisms associated with plasma factor VII coagulant activity levels in healthy Tunisians		227500		CDC	2005												
147622	Y	lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Kobayashi, T.  et al. 2007	17335370				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		146790		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
147131		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Lin, T. S.  et al. 2007	17273734				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Oncol Rep    2007    17(3)    565-72	Genetic polymorphism and gene expression of microsomal epoxide hydrolase in non-small cell lung cancer		132810		CDC	2007	with the combination of fast type (Tyr113) and slow type (His139), the mEH enzyme expressed in most NSCLC patients may have intermediate activity.											
147399		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Wells, P. S.  et al. 2006	16988547				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Canadian;Caucasian		CDC GDP info	2162	Hs.335513			Blood Coagul Fibrinolysis    2006    17(7)    533-8	The factor XIII Val34Leu polymorphism		134570		CDC	2006												
147477			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Hoppe, B.  et al. 2006	17003923				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	German		CDC GDP info	2153	Hs.30054			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		227400		CDC	2006												
142319	Y	asthma	IMMUNE	IMM	Asthma|Occupational Diseases			DQ1B				Balboni A et al. 1996	8777952								KGB					The European respiratory journal. 1996 Feb;9(2):207-10	Association between toluene diisocyanate-induced asthma and DQB1 markers: a possible role for aspartic acid at position 57.			7679	1	1996												
142320		early-onset periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Genetic Predisposition to Disease			DQB1				Ohyama H et al. 1996	8884646								KGB					Journal of periodontology. 1996 Sep;67(9):888-94	HLA Class II genotypes associated with early-onset periodontitis: DQB1 molecule primarily confers susceptibility to the disease			7680	1	1996												
142323		autoimmune thyroiditis	IMMUNE	IMM	Thyroiditis, Autoimmune			DR3				Kong YC et al. 1996	9064334								KGB					The Journal of experimental medicine. 1996 Sep;184(3):1167-72	HLA-DRB1 polymorphism determines susceptibility to autoimmune thyroiditis in transgenic mice: definitive association with HLA-DRB1*0301 (DR3) gene.		603366	7683	1	1996												
142324		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11q23	DRD2	112785526	112851091		Li T et al. 2002	11920858					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Chinese	China	KGB	1813	Hs.73893			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		126450	7684	1	2002												
142325		celiac disease	IMMUNE	IMM	Celiac Disease			DRw17				Kagnoff MF et al. 1989	2788285								KGB					Proceedings of the National Academy of Sciences of the United States of America. 1989 Aug;86(16):6274-8	Structural analysis of the HLA-DR -DQ and -DP alleles on the celiac disease-associated HLA-DR3 (DRw17) haplotype.			7685	1	1989												
142326	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease			ERVK3			n	Pani MA et al. 2002	12039523						German		Y Wang	2088				Human immunology. 2002 Jun;63(6):481-4	The variable endogenous retroviral insertion in the human complement C4 gene: atransmission study in type I diabetes mellitus			7686	1	2002												
146834	P		CANCER	CAN	Neoplasms	11	11p15.5	DRD4	627304	630703		Yoshimura, K.  et al. 2003	14634838				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		126452		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146998		temperament	PSYCH	PSY		4	4q25	EGF	111053498	111152868		Keltikangas-Jarvinen, L.  et al. 2006	16436184				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Finnish		CDC GDP info	1950	Hs.419815			Genes Brain Behav    2006    5(1)    11-8	Cloninger's temperament dimensions and epidermal growth factor A61G polymorphism in Finnish adults		131530		CDC	2006												
147111		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	1	1q42.1	EPHX1	224064453	224099884		Hersh, C. P.  et al. 2006	16456143				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Am J Respir Crit Care Med    2006	Genetic Association Analysis of Functional Impairment in Chronic Obstructive Pulmonary Disease		132810		CDC	2006	Polymorphisms in several genes seem to be associated with COPD-related traits other than FEV(1). These associations may identify genes in pathways important for COPD pathogenesis.											
146737	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p13.3	DNASE1	3642940	3648097		Bodano, A.  et al. 2006	16449364				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3			CDC GDP info	1773	Hs.629638			Rheumatology (Oxford)    2006	Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility		125505		CDC	2006	The association of the Gln244Arg SNP with SLE susceptibility indicates that common polymorphisms in DNASEI play a role in the genetics of SLE.											
146749	N	GSTM1 methylation infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823		Dhillon, V. S.  et al. 2007	17277043				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDP info	1789	Hs.251673			Mol Hum Reprod    2007	Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men		602900		CDC	2007			folate									
146775	Y	perceived parenting	PSYCH	PSY		11	11q23	DRD2	112785526	112851091			16402352	DRD2  exon 8			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Am J Med Genet B Neuropsychiatr Genet    2006	Negative perceived paternal parenting is associated with dopamine D(2) receptor exon 8 and GABA(A) alpha 6 receptor variants		126450		CDC	2006												
146514	N	colorectal cancer liver cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Liver Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Gervasini, G.  et al. 2007	17605821				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			BMC Cancer    2007    7(1)    118	Genetic variability in CYP3A4 and CYP3A5 in primary liver, gastric and colorectal cancer patients		124010		CDC	2007	Common polymorphisms on CYP3A4 and CYP3A5 genes do not modify the risk of developing digestive cancers in Western Europe.											
146557		gastrointestinal toxicity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute|Drug Toxicity	7	7q21.1	CYP3A5	99083752	99170757		Kishi, S.  et al. 2007	17264302				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Blood    2007	Ancestry and pharmacogenetics of antileukemic drug toxicity		605325		CDC	2007			chemotherapy									
146586	Y	bone density dehydroepiandrosterone sulphate osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	7	7q21-q22.1	CYP3A7	99140595	99170757		Bacsi, K.  et al. 2007	17604264				Cytochrome P450, family 3, subfamily A, polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000765.2			CDC GDP info	1551	Hs.111944			Orv Hetil    2007    148(27)    1273-80	Impact of CYP3A7*1C polymorphism on bone mineral content in postmenopausal women.		605340		CDC	2007	Our data suggest that CYP3A7 polymorphism might have an influence on bone mass at the lumbar spine independently of serum dehydroepiandrosterone sulphate concentrations.											
142347	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Wartiovaara U et al. 1999	10030380	Val34Leu			coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Finland	KGB	2162	Hs.335513			Atherosclerosis. 1999 Feb;142(2):295-300	Association of FXIII Val34Leu with decreased risk of myocardial infarction in Finnish males.		134570	7710	1	1999	The association of FXIII 34Leu variant with a lower incidence of myocardial infarction suggests a new role for FXIII in a polygenic thrombotic disease.											
142348	Y	bipolar disorder	PSYCH	PSY				G72/G30				Hattori E et al. 2003	12647258								KGB					American journal of human genetics. 2003 May;72(5):1131-40	Polymorphisms at the G72/G30 gene locus on 13q33 are associated with bipolar disorder in two independent pedigree series.			7711	1	2003												
148745		myositis	IMMUNE	IMM	Dermatomyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DQB1	32735641	32742374		Chinoy, H.  et al. 2005	16507114				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDP info	3119	Hs.409934			Arthritis Res Ther    2005    8(1)    R13	In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype		604305		CDC	2005	these findings support the notion that myositis patients with differing myositis serology have different immunogenetic profiles, and that these profiles may define specific myositis subtypes.											
148757			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Farjadian, S.  et al. 2006	16712649				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Immunogenet    2006    33(3)    185-91	HLA class II gene polymorphism in Parsees and Zoroastrians of Iran		604305		CDC	2006												
148975		cervical cancer	CANCER	CAN	Carcinoma|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wu, Y.  et al. 2007	17311339				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Med Virol    2007    79(4)    439-446	HPV16 E6 variants and HLA class II polymorphism among Chinese women with cervical cancer		142857		CDC	2007			human papillomavirus									
148603		leukemia lymphoma	CANCER	CAN	HTLV-I Infections	6	6p21.3	HLA-B	31344507	31432914		Goedert, J. J.  et al. 2007	17437273				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Int J Cancer    2007	Risk of human T-lymphotropic virus type I-associated diseases in Jamaica with common HLA types		142830		CDC	2007												
142356	Y	Hb D-Los Angeles [beta 121(GH4)Glu-->Gln]	OTHER	OTH				GH4				Fioretti G et al. 1993	8095930								KGB					Hemoglobin. 1993 Feb;17(1):17-Sep	DNA polymorphisms associated with Hb D-Los Angeles [beta 121(GH4)Glu-->Gln] in southern Italy.			7721	1	1993												
142357		DNA polymorphisms of African ancestry	OTHER	OTH				GH4				Lacerra G et al. 1993	7908281								KGB					Hemoglobin. 1993 Dec;17(6):523-35	Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families.			7722	1	1993												
148654		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DPB1	33151737	33162954		Kim, J. H.  et al. 2006	16890179				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		142858		CDC	2006												
146466	Y	diabetes, type 1 Vitamin D	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.2	CYP2R1	14856131	14870327		Ramos-Lopez, E.  et al. 2007	17607662				Cytochrome P450, family 2, subfamily R, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092584	German		CDC GDP info	120227	Hs.371427			Diabetes Metab Res Rev    2007	CYP2R1 (vitamin D 25-hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans		608713		CDC	2007	Thus, our findings reveal a novel association of CYP2R1 polymorphisms in patients with type 1 diabetes and with their circulating levels of 25(OH)D(3).											
146486		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Roy, J. N.  et al. 2006	16906020				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenet Genomics    2006    16(9)    659-665	Cyp3A4, Cyp3A5, and MDR-1 genetic influences on tacrolimus pharmacokinetics in renal transplant recipients		124010		CDC	2006	The complete absence of Cyp3A5*3 allele and the accumulation of less than three copies of MDR-1 (T-129C, C3435T and G2677T) polymorphisms are associated with lower tacrolimus blood levels identifying these genotypes as markers for patients requiring higher tacrolimus doses.											
142364		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			Gm3				Knowler WC et al. 1988	3177389							Arizona	KGB					American journal of human genetics. 1988 Oct;43(4):520-6	Gm3;5 13 14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture.			7729	1	1988												
142365	Y	hemolytic disease	OTHER	OTH	Erythroblastosis, Fetal|Thalassemia			H2				Bayoumi RA et al. 1999	10081984							Sudan	KGB					Hemoglobin. 1999 Feb;23(1):33-45	The association of Hb Khartoum [beta124(H2)Pro-->Arg] with gamma+-thalassemia is responsible for hemolytic disease in the newborn of a Sudanese family.			7730	1	1999												
142366	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Hemoglobinopathies			Hb				Wille RT et al. 1996	8617104								KGB					Chest. 1996 Mar;109(3):848-50	Familial association of primary pulmonary hypertension and a new low-oxygen affinity beta-chain hemoglobinopathy Hb Washtenaw.			7731	1	1996												
142367		thalassaemia	HEMATOLOGICAL	HEM	beta-Thalassemia			Hb				Scerri CA et al. 1993	8518184						Maltese		KGB					British journal of haematology. 1993 Apr;83(4):669-71	The beta + IVS I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta.			7732	1	1993												
142368	Y	hemoglobin Knossos and hemoglobin Lepore	OTHER	OTH	Thalassemia			Hb				Fathman CG et al. 1984	6469699							Algeria|France	KGB					Hemoglobin. 1984 ;8(3):229-38	The association of hemoglobin Knossos and hemoglobin Lepore in an Algerian patient.			7733	1	1984												
142369	Y	Hemoglobin Stanleyville II	METABOLIC	MET	Chromosome Deletion			Hb				Costa FF et al. 1991	1671772								KGB					Human genetics. 1991 Jan;86(3):319-20	Hemoglobin Stanleyville II (alpha 78 Asn----Lys) is associated with a 3.7-kb alpha-globin gene deletion.			7734	1	1991												
142370	Y	higher prevalence of multiple infections	OTHER	OTH	Malaria, Falciparum|Sickle Cell Trait			Hb				Ntoumi F et al. 1997	9287956							Gabon	KGB					Experimental parasitology. 1997 Sep;87(1):39-46	Plasmodium falciparum: sickle-cell trait is associated with higher prevalence of multiple infections in Gabonese children with asymptomatic infections.			7735	1	1997												
142371		alpha-thalassemia-2 and Hb S	HEMATOLOGICAL	HEM	Anemia, Sickle Cell|Thalassemia			Hb				Codrington JF et al. 1989	2606723							Georgia|Suriname	KGB					Hemoglobin. 1989 ;13(6):543-56	Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S.			7736	1	1989												
142372	Y	alpha thalassemia and Hb S	OTHER	OTH	Thalassemia			Hb				Costa FF et al. 1987	3452204							Brazil	KGB					Nouv Rev Fr Hematol. 1987 ;29(6):387-90	The association of Hb Stanleyville II with alpha thalassemia and Hb S.			7737	1	1987												
142373	Y	Xmn I polymorphism at -158bp of G gamma-globin gene	OTHER	OTH	beta-Thalassemia			HbF				Lolis D et al. 1995	7543865								KGB					European journal of obstetrics, gynecology, and reproductive biology. 1995 Jun;60(2):153-6	High HbF in pregnancy is associated with the Xmn I polymorphism at the -158bp of the G gamma-globin gene.			7738	1	1995												
146371			NORMALVARIATION	NV		10	10q24	CYP2C9	96688429	96739137		Liou, Y. H.  et al. 2006	16924387				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			J Hum Genet    2006	The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population		601130		CDC	2006												
146414			NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Bosch, T. M.  et al. 2006	16771603				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Caucasian		CDC GDP info	1564	Hs.333497			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		124030		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146440		DNA damage	OTHER	OTH		10	10q24.3-qter	CYP2E1	135190856	135224714			16535827				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Wei Sheng Yan Jiu    2005    34(6)    655-7	Study on the relationship between DNA damage and polymorphisms of metabolizing enzymes of vinyl chloride monomer-exposed workers		124040		CDC	2005	Cumulative exposure dose and polymorphism of metabolizing enzymes may modulate the DNA damage of VCM-exposed workers. possessing the CYP2E1 c1c2 and c2c2 genotypes (OR 4.92, 95% CI 1.35-13.85 and OR 2.57, 95% CI 1.01-6.59).		vinyl-chloride									
142379	Y	chronic hemolytic anemia	HEMATOLOGICAL	HEM	Anemia, Hemolytic|Chronic Disease	1	1q21	PKLR	153526253	153537835		Zarza R et al. 1999	10374175				pyruvate kinase, liver and RBC	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000298		Spain	KGB	5313	Hs.95990			Med Clin (Barc). 1999 May;112(16):606-9	Molecular study of red cell pyruvate kinase deficiency in 15 patients with chronic hemolytic anemia. Group of Erythropathology of Hematology and hemotherapy Association of Spain (HHAS) trans Estudio molecular del deficit de piruvatocinasa eritrocitaria		609712	7744	1	1999	 SSCP procedure followed by direct gene sequencing in positive cases is fast and simple enough to allow the identification of PK deficient variants, avoiding the need of biochemical characterisation of semipurified deficient enzyme, which is more cumbersome and time consuming. In addition, the PCR-ER method is a very useful tool for screening of the most frequent molecular variants, as well as, for the detection of the carrier condition of this enzymopathy (family studies).											
142381	Y	forming the specialized protofilament ribbons of flagellar microtubules	OTHER	OTH				RIB43a				Norrander JM et al. 2000	10637302								KGB					Molecular biology of the cell. 2000 Jan;11(1):201-15	The Rib43a protein is associated with forming the specialized protofilament ribbons of flagellar microtubules in Chlamydomonas.			7746	1	2000												
142382		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.3	HLA-DRB1	32593131	32665559		Nakayama J et al. 2000	10777671	DR2			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Genomics. 2000 Apr;65(1):84-6	Linkage of human narcolepsy with HLA association to chromosome 4p13-q21.		142857	7747	1	2000												
142384	Y	thyroid carcinoma	CANCER	CAN	Adenocarcinoma|Carcinoma, Papillary|Thyroid Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Poncet D et al. 1982	6814009	DR1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	KGB	3123	Hs.534322			Tissue antigens. 1982 Aug;20(2):155-8	Strong association between an HLA-DR antigen and thyroid carcinoma.		142857	7749	1	1982												
142386		Chlamydia trachomatis	INFECTION	INF	Chlamydia Infections|Infertility, Female|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Morre SA et al. 2003	12552467					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312	tubal infertility		The Journal of infectious diseases. 2003 Jan;187(2):341-2; author reply 342-3	The role that the functional Asp299Gly polymorphism in the toll-like receptor-4 gene plays in susceptibility to Chlamydia trachomatis-associated tubal infertility.		603030	7751	1	2003			Chlamydia trachomatis									
142387		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Ota M et al. 1999	10205273	HLA-B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			American journal of human genetics. 1999 May;64(5):1406-10	The critical region for Behcet disease in the human major histocompatibility complex is reduced to a 46-kb segment centromeric of HLA-B by association analysis using refined microsatellite mapping.		142830	7752	1	1999												
142388	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus|Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Sanjeevi CB et al. 1999	10458326								KGB					Tissue antigens. 1999 Jul;54(1):83-7	Association of HLA class II alleles with different subgroups of diabetes mellitus in Eastern India identify different associations with IDDM and malnutrition-related diabetes.			7753	1	1999												
142389		hemochromatosis	METABOLIC	MET	Hemochromatosis|Porphyrias|Skin Diseases	6	6p21.3	HLA-DRB1	32593131	32665559		Fitzsimons RB et al. 1987	3569756	DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Gastroenterology. 1987 Jun;92(6):1833-8	Porphyria cutanea tarda and HLA-linked hemochromatosis. Evidence against a systematic association.		142857	7754	1	1987												
142392	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-C	31344507	31432914		Green JR et al. 1986	3501270	C4				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791			Annals of human genetics. 1986 Jan;50(Pt 1):93-6	The association of HLA-linked genes with systemic lupus erythematosus.		142840	7757	1	1986												
142393	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Ramos-Arroyo MA et al. 2001	11476906							Spain	KGB					Human immunology. 2001 Aug;62(8):821-5	Heat-shock protein 70-1 and HLA class II gene polymorphisms associated with celiac disease susceptibility in Navarra (Spain).			7758	1	2001												
142394	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Felty's Syndrome	6		HLA	29903802	30085613		Hillarby MC et al. 1996	8697660								KGB					Clinical and experimental rheumatology. 1996 Jan-Feb;14(1):67-70	TAP2D is associated with HLA-B44 and DR4 and may contribute to rheumatoid arthritis and Felty's syndrome susceptibility.			7759	1	1996												
142395	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6		HLA	29903802	30085613		Sollid LM et al. 1989	2909659								KGB					The Journal of experimental medicine. 1989 Jan;169(1):345-50	Evidence for a primary association of celiac disease to a particular HLA-DQ alpha/beta heterodimer.			7760	1	1989												
142396		acute anterior uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	6	6p21.3	HLA-B	31344507	31432914		Goto K et al. 1998	9501876	HLA-B27				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese		KGB	3106	Hs.77961			Investigative ophthalmology & visual science. 1998 Mar;39(3):634-7	MICA gene polymorphisms and HLA-B27 subtypes in Japanese patients with HLA-B27-associated acute anterior uveitis.		142830	7761	1	1998	 These results suggest that the MICA gene itself, or other nearby gene(s), linked to the MICA A4 allele may be involved in the development of HLA-B27 AAU and that HLA-B27 subtypes are not important in the development of HLA-B27 AAU in a Japanese population.											
142398	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Fiorillo MT et al. 2003	12746911	HLA-B27				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Italy	KGB	3106	Hs.77961			Arthritis and rheumatism. 2003 May;48(5):1385-9	Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis.		142830	7763	1	2003	 In Sardinia, 2 distinct haplotypes harbor the non-AS-associated HLA-B*2709 allele or the AS-associated B27 alleles. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 may play some role in conferring susceptibility to AS.											
142400	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	HLA-A	29963507	30085130		Payami H et al. 1997	9270587	A2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			Neurology. 1997 Aug;49(2):512-8	Evidence for association of HLA-A2 allele with onset age of Alzheimer's disease.		142800	7765	1	1997												
142401	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Salvarani C et al. 2001	11508592	HLA-B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Italian	Italy	KGB	3106	Hs.77961			The Journal of rheumatology. 2001 Aug;28(8):1867-70	Association of MICA alleles and HLA-B51 in Italian patients with Behcet's disease.		142830	7766	1	2001	 HLA-B51 is the most important susceptibility gene in BD. Association with MICA-A6, when it exists, is secondary to the strong linkage disequilibrium with HLA-B51.											
142402	Y	ankylosing spondylitis independent of HLA-B27	IMMUNE	IMM	Spondylitis, Ankylosing	6	6p21.3	HLA-B	31344507	31432914		McGarry F et al. 1999	10332976	HLA-B27		promoter		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			The Journal of rheumatology. 1999 May;26(5):1110-6	The -308.1 polymorphism in the promoter region of the tumor necrosis factor gene is associated with ankylosing spondylitis independent of HLA-B27.		142830	7767	1	1999	 This study confirms the importance of correct matching in genetic analysis in disease association studies, and provides further evidence supporting the involvement of genes other than the MHC class I locus in the pathogenesis and features of AS.											
142405	Y	primary IgA nephropathy	OTHER	OTH	Glomerulonephritis, IGA			HLA-DQB				Tatsuma N et al. 1997	9396241						Japanese		KGB					Nippon Jinzo Gakkai shi. 1997 Oct;39(7):734-9	HLA-DQ region and TCR gene polymorphism associated with primary IgA nephropathy in Japanese children		604305	7770	1	1997	We conclude that  the HLA-DQ beta and TCR genes make major contributions to the genetic pathogenesis of IgA nephropathy in Japanese children.											
142407	Y	HLA-DQA1 differential expression	OTHER	OTH	Autoimmune Diseases	6	6p21.3	HLA-DQA1	32713160	32722817		Morzycka-Wroblewska E et al. 1997	8995182	DQA1(*)03011 and DQA1(*)05011		promoter		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			KGB	3117	Hs.387679			Immunogenetics. 1997 ;45(3):163-70	Differential expression of HLA-DQA1 alleles associated with promoter polymorphism.		146880	7772	1	1997												
142408		HTLV-I-associated myelopathy	OTHER	OTH	Paraparesis, Tropical Spastic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Usuku K et al. 1990	2387316				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			European journal of immunology. 1990 Jul;20(7):1603-6	Association of a particular amino acid sequence of the HLA-DR beta 1 chain with HTLV-I-associated myelopathy.		142857	7773	1	1990												
142411		schizophrenia	PSYCH	PSY	Schizophrenia	6		HLA	29903802	30085613		Schwab SG et al. 2002	11920855								KGB					American journal of medical genetics. 2002 Apr;114(3):315-20	Investigation of linkage and association/linkage disequilibrium of HLA A- DQA1- DQB1- and DRB1-alleles in 69 sib-pair- and 89 trio-families with schizophrenia.			7776	1	2002												
142414	Y	complement C4 complotypes	OTHER	OTH		6	6p21.3	HLA-B	31344507	31432914		Young SG et al. 1983	6837577	HLA-B17				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			American journal of human genetics. 1983 Mar;35(2):309-17	Analysis of active and inactive complement C4 complotypes associated with subtypes of HLA-B17 in different racial groups.		142830	7779	1	1983												
142415	Y	susceptibility or resistance to immunodeficiency virus type 1 infection	INFECTION	INF	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	6		HLA	29903802	30085613		de Sorrentino AH et al. 2000	11010837							Argentina	KGB					The Journal of infectious diseases. 2000 Nov;182(5):1523-6	HLA class I alleles associated with susceptibility or resistance to human immunodeficiency virus type 1 infection among a population in Chaco Province Argentina.			7780	1	2000												
142417	Y	dyslipidemias	METABOLIC	MET	Hyperlipidemia, Familial Combined|Insulin Resistance|Hyperlipidemias	4	4q28-q31	FABP2	120457852	120462766		Pihlajamaki J et al. 1997	9194752					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Finland	KGB	2169	Hs.282265			Arteriosclerosis, thrombosis, and vascular biology. 1997 Jun;17(6):1039-44	Codon 54 polymorphism of the human intestinal fatty acid binding protein 2 gene is associated with dyslipidemias but not with insulin resistance in patients with familial combined hyperlipidemia.		134640	7782	1	1997												
142418	Y	primary biliary cirrhosis	OTHER	OTH	Liver Cirrhosis, Biliary	6	6p21.3	HLA-DPB1	33151737	33162954		Mella JG et al. 1995	7843712	DPB1*0301				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	German	Germany	KGB	3115	Hs.485130			Hepatology (Baltimore, Md). 1995 Feb;21(2):398-402	Association of primary biliary cirrhosis with the allele HLA-DPB1*0301 in a German population.		142858	7783	1	1995												
142420		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6		HLA	29903802	30085613		Truedsson L et al. 1995	8991981						caucasian		KGB					The Journal of rheumatology. 1995 Oct;22(10):1852-61	Sharing of MHC haplotypes among patients with systemic lupus erythematosus from unrelated Caucasian multicase families: disease association with the extended haplotype [HLA-B8 SC01 DR17]			7785	1	1995	 We demonstrate that a very limited number of MHC haplotypes are associated with familial SLE. The haplotype [HLA-B8,SCO1,DR17] was closely related with the disease. There was no evidence suggesting familial SLE constitutes a disease subset. Determination of MHC haplotypes in multicase families is of value for assessment of disease susceptibility.											
142422	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Jaiswal AK et al. 1985	2986612					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Biomedica biochimica acta. 1985 ;44(1):33-6	Identification of an HLA-DQ beta-chain related genomic sequence associated with insulin-dependent diabetes.		604305	7787	1	1985												
142423		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Nejentsev S et al. 2000	11118029								KGB					Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.			7788	1	2000												
142424	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Hamaguchi K et al. 2000	10703602			promoter			Japanese	Japan	KGB					Tissue antigens. 2000 Jan;55(1):6-Oct	Analysis of tumor necrosis factor-alpha promoter polymorphism in type 1 diabetes: HLA-B and -DRB1 alleles are primarily associated with the disease in Japanese.			7789	1	2000												
142425	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-C	31344507	31432914		Enerback C et al. 2000	11194889	Cw6				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Sweden	KGB	3107	Hs.591791			Archives of dermatological research. 2000 Nov;292(11):525-30	Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients.		142840	7790	1	2000	We conclude that  Cw6 is the allele which shows the highest degree of association with psoriasis in our set of families and we propose that it directly influences the age at onset of the disease rather than increasing the genetic load in accordance with a polygenic theory.											
142427	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Ilonen J et al. 1997	9174152	DQB1*0304				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Baltic States	KGB	3119	Hs.409934			Tissue antigens. 1997 May;49(5):532-4	HLA-DQB1*0304-DRB1*0408 haplotype associated with insulin-dependent diabetes mellitus in populations in the eastern Baltic region.		604305	7792	1	1997												
142428	N	diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease|	6		HLA	29903802	30085613	n	McDermott MF et al. 1996	8909943								KGB					European journal of immunogenetics. 1996 Oct;23(5):361-70	No linkage or association of telomeric and centromeric T-cell receptor beta-chain markers with susceptibility to type 1 insulin-dependent diabetes in HLA-DR4 multiplex families.			7793	1	1996												
142430	Y	minimal change nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid	6		HLA	29903802	30085613		Fathman CG et al. 1985	3869271						Japanese	Japan	KGB					Kidney international. 1985 Aug;28(2):193-7	Association of HLA-DRw8 and DQw3 with minimal change nephrotic syndrome in Japanese adults.			7795	1	1985												
142431	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6		HLA	29903802	30085613		Doita M et al. 1990	1982890						Japanese	Japan	KGB					The Kobe journal of medical sciences. 1990 Aug;36(4-Mar):103-14	Association of HLA-DR antigens with disease severity in Japanese patients with rheumatoid arthritis.			7796	1	1990												
142432		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Lanchbury JS et al. 1989	2789210	DQB3.1 and 3.2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Human immunology. 1989 Sep;26(1):59-71	HLA-DQ beta 3.1 allele is a determinant of susceptibility to DR4-associated rheumatoid arthritis.		604305	7797	1	1989												
142435	Y	Graves disease	IMMUNE	IMM	Graves Disease	6		HLA	29903802	30085613		Chen QY et al. 2000	10770195								KGB					The Journal of clinical endocrinology and metabolism. 2000 Apr;85(4):1545-9	The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves' disease in African Americans.			7800	1	2000												
142436		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Vandevyver C et al. 1994	7911477	DR2			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Journal of neuroimmunology. 1994 Jun;52(1):25-32	HLA and T-cell receptor polymorphisms in Belgian multiple sclerosis patients: no evidence for disease association with the T-cell receptor.		142857	7801	1	1994	We conclude that , while a clear association with HLA DR2 is observed, little convincing evidence exists for an association of CP MS with RFLPs of the TCRA or TCRB chain genes.											
142439	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Hiraiwa A et al. 1990	1700425	Dw4 and Dw14			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Proceedings of the National Academy of Sciences of the United States of America. 1990 Oct;87(20):8051-5	Structural requirements for recognition of the HLA-Dw14 class II epitope: a key HLA determinant associated with rheumatoid arthritis.		142857	7804	1	1990												
142441	Y	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA|Purpura, Schoenlein-Henoch	6		HLA	29903802	30085613		Abe J et al. 1993	8105396								KGB					Nephron. 1993 ;65(1):17-22	Genetic study on HLA class II and class III region in the disease associated with IgA nephropathy.			7806	1	1993												
142442	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Hodgkinson AD et al. 2000	10689118							Great Britain	KGB					Human immunology. 2000 Mar;61(3):290-5	The HLA-E locus is associated with age at onset and susceptibility to type 1 diabetes mellitus.			7807	1	2000												
142445		idiopathic progressive sensorineural hearing loss	OTHER	OTH	Hearing Loss, Sensorineural|Autoimmune Diseases	6		HLA	29903802	30085613		Cao MY et al. 1996	8712634								KGB					The Annals of otology, rhinology, and laryngology. 1996 Aug;105(8):628-33	HLA class II-associated genetic susceptibility in idiopathic progressive sensorineural hearing loss.			7810	1	1996												
142446		marrow graft rejection	OTHER	OTH	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	6p21.3	HLA-C	31344507	31432914		Pei J et al. 2001	11529487					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791			Biology of blood and marrow transplantation. 2001 ;7(7):378-83	Generation of HLA-C-specific cytotoxic T cells in association with marrow graft rejection: analysis of alloimmunity by T-cell cloning and testing of T-cell-receptor rearrangements.		142840	7811	1	2001												
142447		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Palacio LG et al. 2002	12120698							Colombia	KGB					Multiple sclerosis (Houndmills, Basingstoke, England). 2002 May;8(3):249-55	Multiple sclerosis in the tropics: genetic association to STR's loci spanning the HLA and TNF.			7812	1	2002												
142448		celiac disease	IMMUNE	IMM	Celiac Disease	6		HLA	29903802	30085613		Colonna M et al. 1990	2286538								KGB					Human immunology. 1990 Dec;29(4):263-74	Reassessment of HLA association with celiac disease in special reference to the DP association.			7813	1	1990												
142449	Y	IgA deficiency	IMMUNE	IMM	Dysgammaglobulinemia	6		HLA	29903802	30085613		Poncet D et al. 1983	6623450								KGB					Tissue antigens. 1983 Aug;22(2):151-4	Association of IgA deficiency with HLA A28 and B14.			7814	1	1983												
142452	Y	juvenile dermatomyositis	OTHER	OTH	Dermatomyositis|Disease Susceptibility	6	6p21.3	HLA-DQA1	32713160	32722817		Reed AM et al. 1991	1783570	DQA1 *0501				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			KGB	3117	Hs.387679			Human immunology. 1991 Dec;32(4):235-40	Molecular genetic studies of major histocompatibility complex genes in children with juvenile dermatomyositis: increased risk associated with HLA-DQA1 *0501.		146880	7817	1	1991												
142454	Y	pulmonary tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6p21.3	HLA-DRB1	32593131	32665559		Wang J et al. 2001	11802982	HLA-DRB1*15, *11			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	KGB	3123	Hs.534322			Zhonghua jie he he hu xi za zhi. 2001 May;24(5):302-5	Association of HLA-DRB1 genes with pulmonary tuberculosis		142857	7819	1	2001	 These results show that HLA-DRB1 * 15 allele is susceptible gene in PTB, DRB1 * 11 may be a protective allele, HLA-DRB1 * 15 allele may be related to patients with refractory PTB.											
142455		lymphoblastic leukemia	CANCER	CAN	Virus Diseases|Leukemia, Experimental|Leukemia, CALLA-Positive|Leukemia, Lymphocytic, Acute, L1|Abortion, Habitual	6		HLA	29903802	30085613		Dorak MT et al. 1999	10397736								KGB					Blood. 1999 Jul;94(2):694-700	Unravelling an HLA-DR association in childhood acute lymphoblastic leukemia.			7820	1	1999												
142457		diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DPB1	33151737	33162954		Baisch JM et al. 1992	1502500	DPB1*0201,  *0301,  *0402, *0101, *0202				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KGB	3115	Hs.485130			Scandinavian journal of immunology. 1992 Aug;36(2):331-40	Analysis of HLA genotypes and susceptibility to insulin-dependent diabetes mellitus: association maps telomeric to HLA-DP.		142858	7822	1	1992												
142458	Y	dystrophic epidermolysis bullosa	OTHER	OTH	Epidermolysis Bullosa Dystrophica	6		HLA	29903802	30085613		Vaidya S et al. 1991	1929459								KGB					Archives of dermatology. 1991 Oct;127(10):1524-7	HLA and epidermolysis bullosa. Association between the HLA complex and recessive dystrophic epidermolysis bullosa.			7823	1	1991												
142459	Y	idiopathic haemochromatosis	METABOLIC	MET	Hemochromatosis	6		HLA	29903802	30085613		Coulondre C et al. 1984	6152900								KGB					Experimental and clinical immunogenetics. 1984 ;1(1):25-30	The molecular basis for the association between HLA-A3 and idiopathic haemochromatosis.			7824	1	1984												
142462	Y	serum testosterone level	METABOLIC	MET		6		HLA	29903802	30085613		Poncet D et al. 1982	7076285								KGB					Immunology letters. 1982 Mar;4(3):155-8	An association between serum testosterone level and HLA phenotype.			7827	1	1982												
142463		immotile cilia syndrome	OTHER	OTH	Ciliary Motility Disorders			MLN				Gasparini P et al. 1994	7989042								KGB	4295	Hs.2813			Human genetics. 1994 Dec;94(6):671-4	The motilin gene: subregional localisation tissue expression DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome.		158270	7828	1	1994												
142464		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6		HLA	29903802	30085613		Ristori G et al. 1997	9258248								KGB					Journal of neuroimmunology. 1997 Aug;77(2):181-4	HLA-DM polymorphisms do not associate with multiple sclerosis: an association study with analysis of myelin basic protein T cell specificity.			7829	1	1997												
142465		alopecia areata	IMMUNE	IMM	Alopecia Areata	6		HLA	29903802	30085613		Tazi-Ahnini R et al. 2003	12589427								KGB			most severe form		Human genetics. 2003 Apr;112(4):400-3	Notch4 a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata.			7830	1	2003												
142467	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Cohen R et al. 2002	11796403	B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Israel	KGB	3106	Hs.77961			Annals of the rheumatic diseases. 2002 Feb;61(2):157-60	Association of the MIC-A gene and HLA-B51 with Behcet's disease in Arabs and non-Ashkenazi Jews in Israel.		142830	7832	1	2002	 These results imply strong association between the MIC-A A6 allele and the disease in Israeli Arabs, but not in Israeli NAJ patients. The stratification analysis indicates that this association results secondarily from a strong linkage disequilibrium with HLA-B51, and the real disease susceptibility gene which plays a part in the development of Beh??'s disease is most probably the HLA-B51 allele itself.											
142469	Y	young-onset keratoconus	VISION	VIS	Keratoconus	6		HLA	29903802	30085613		Adachi W et al. 2002	11931792							Japan	KGB					American journal of ophthalmology. 2002 Apr;133(4):557-9	The association of HLA with young-onset keratoconus in Japan.			7834	1	2002	 HLA-A26, B40, and DR9, which were found relatively frequently in the ancient Japanese population, seem to be associated with keratoconus in younger individuals.											
142470		chronic myelogenous leukemia	CANCER	CAN	Leukemia, Myeloid, Chronic|Leukemia, Myeloid, Philadelphia-Positive	6		HLA	29903802	30085613		Richiardi PM et al. 1994	7808001							Italy	KGB					Leukemia. 1994 Dec;8(12):2134-7	The HLA class I-CML association revisited taking into account the two forms of gene fusion in the Philadelphia chromosome. A multicenter study.			7835	1	1994												
142472	Y	systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	6		HLA	29903802	30085613		Kang SH et al. 2001	11469465						Korean	Korea	KGB					The Journal of rheumatology. 2001 Jul;28(7):1577-83	Association of HLA class II genes with systemic sclerosis in Koreans.			7837	1	2001	 HLA-DR gene has a primary association with anti-topo I response, and HLA-DR 38V-67FLEDR71 group alleles including DRB5*0102 (in linkage disequilibrium with DRB1*1502) show the strongest association with anti-topo I response in Korean patients with SSc.											
142473	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	HLA-A	29963507	30085130		Zareparsi S et al. 2002	11914421	A2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			Neurology. 2002 Mar;58(6):973-5	HLA-A2 homozygosity but not heterozygosity is associated with Alzheimer disease.		142800	7838	1	2002												
142474	Y	aortoarteritis	CARDIOVASCULAR	CARD	Aortitis|Arteritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dang A et al. 2002	12358152	DRB1*04 and DRB1*07			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese	China	KGB	3123	Hs.534322			Hypertension research. 2002 Jul;25(4):631-4	Association of the HLA-DRB1 gene with susceptibility to aortoarteritis in a Chinese Han population.		142857	7839	1	2002												
142477	Y	Graves disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	HLA-B	31344507	31432914		Ito M et al. 1989	2567295					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Japan	KGB	3106	Hs.77961			The Journal of clinical endocrinology and metabolism. 1989 Jul;69(1):100-4	Association of HLA antigen and restriction fragment length polymorphism of T cell receptor beta-chain gene with Graves' disease and Hashimoto's thyroiditis.		142830	7842	1	1989												
142480	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Yabuki K et al. 1999	10440244	B*5101				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Greece	KGB	3106	Hs.77961			Investigative ophthalmology & visual science. 1999 Aug;40(9):1921-6	Association of MICA gene and HLA-B*5101 with Behcet's disease in Greece.		142830	7845	1	1999	 This study revealed in Greek patients a strong association of BD with a particular MICA-TM allele, MICA-A6, providing insight into the molecular mechanism underlying the development of BD.											
142482		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Disease Susceptibility	6	6p21.3	PSMB9	32929915	32935606		Pryhuber KG et al. 1996	8730138	LMP2 BB				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			KGB	5698	Hs.132682			The Journal of rheumatology. 1996 Apr;23(4):747-52	Polymorphism in the LMP2 gene influences disease susceptibility and severity in HLA-B27 associated juvenile rheumatoid arthritis.		177045	7847	1	1996												
142483		nasopharyngeal carcinoma	CANCER	CAN	Nasopharyngeal Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Burt RD et al. 1994	8112882	HLA-A2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	caucasian	United States|China	KGB	3105	Hs.181244			International journal of cancer. Journal international du cancer. 1994 Feb;56(4):465-7	A protective association between the HLA-A2 antigen and nasopharyngeal carcinoma in US Caucasians.		142800	7848	1	1994												
142484	Y	primary sclerosing cholangitis	OTHER	OTH	Cholangitis|Colitis, Ulcerative	6	6p21.3	HLA-B	31344507	31432914		Poncet D et al. 1983	6600227	HLA-B8				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			Gut. 1983 Jan;24(1):38-41	Association of primary sclerosing cholangitis with HLA-B8.		142830	7849	1	1983												
142485	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility	6		HLA	29903802	30085613		Cutbush SD et al. 1986	2898314								KGB					Disease markers. 1986 Jun;4(2-Jan):173-83	New HLA DNA polymorphisms associated with rheumatoid arthritis.			7850	1	1986												
142489	Y	asthma	IMMUNE	IMM	Asthma	6		HLA	29903802	30085613		Poncet D et al. 1981	7334219								KGB					Journal of immunogenetics. 1981 Dec;8(6):509-17	The association of an HLA 'asthma-associated' haplotype and immediate hypersensitivity in familial asthma.			7854	1	1981												
142490	Y	autism	PSYCH	PSY	Autistic Disorder	6	6p21.3	HLA-DRB1	32593131	32665559		Warren RP et al. 1996	8765331	DR beta 1* 0401,* 0404 , *0101,* 0701			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Journal of neuroimmunology. 1996 Jul;67(2):97-102	Strong association of the third hypervariable region of HLA-DR beta 1 with autism.		142857	7855	1	1996												
142492	Y	upper genital tract infections and histopathology	OTHER	OTH	Chlamydia Infections|Pelvic Inflammatory Disease|Genital Diseases, Female|			OMP1				Dean D et al. 1995	7561174							San Francisco	KGB					The Journal of infectious diseases. 1995 Oct;172(4):1013-22	Major outer membrane protein variants of Chlamydia trachomatis are associated with severe upper genital tract infections and histopathology in San Francisco.			7857	1	1995												
142494	Y	clinical tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Goldfeld AE et al. 1998	9438744	DQB1*0503				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Cambodia	KGB	3119	Hs.409934			JAMA. 1998 Jan;279(3):226-8	Association of an HLA-DQ allele with clinical tuberculosis.		604305	7859	1	1998	 The HLA-DQB1*0503 allele is significantly associated with susceptibility to TB in Cambodian patients and, to our knowledge, is the first identified gene associated with development of clinical TB.											
142495	Y	pathological myopia	VISION	VIS	Myopia	6	6p21.3	HLA-DPB1	33151737	33162954		Zhang K et al. 1997	10680551	DPB1*0301, DPB1*0501				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KGB	3115	Hs.485130			Chinese journal of ophthalmology. 1997 Nov;33(6):453-6	A preliminary study on the association between HLA-DPB1 gene and pathological myopia		142858	7860	1	1997	 No genetic susceptible or resistant allele exists in HLA-DPB1 gene of PM. The significant increase of DPB1*0501/0501 homozygote in PM may be a linkage information.											
142496	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Hesresbach D et al. 1996	8732477								KGB					European journal of immunogenetics. 1996 Apr;23(2):141-51	Investigation of the association of major histocompatibility complex genes including HLA class I class II and TAP genes with clinical forms of Crohn's disease.			7861	1	1996												
142500	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Willkens RF et al. 1991	1701997	DR4,Dw16			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis and rheumatism. 1991 Jan;34(1):43-7	Association of HLA-Dw16 with rheumatoid arthritis in Yakima Indians. Further evidence for the shared epitope hypothesis.		142857	7865	1	1991												
142501	Y	Takayasu arteritis	CARDIOVASCULAR	CARD	Takayasu Arteritis	6	6p21.3	HLA-DRB1	32593131	32665559		Salazar M et al. 2000	10980348	DRB1*1602 and DRB1*1001			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Colombia	KGB	3123	Hs.534322			International journal of cardiology. 2000 Aug;75 Suppl 1:S113-6	Association of HLA-DRB1*1602 and DRB1*1001 with Takayasu arteritis in Colombian mestizos as markers of Amerindian ancestry.		142857	7866	1	2000												
142502		juvenile multiple sclerosis	OTHER	OTH	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Boiko AN et al. 2002	11865153	DR2(15)			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Russian	Russia	KGB	3123	Hs.534322			Neurology. 2002 Feb;58(4):658-60	Association and linkage of juvenile MS with HLA-DR2(15) in Russians.		142857	7867	1	2002												
142503	Y	HIV-related disease	OTHER	OTH	HIV Infections|Blood Coagulation Disorders|Disease Susceptibility|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Donald JA et al. 1992	1357776								KGB					Tissue antigens. 1992 May;39(5):241-8	Progression of HIV-related disease is associated with HLA DQ and DR alleles defined by restriction fragment length polymorphisms.			7868	1	1992												
142504	Y	Vogt-Koyanagi-Harada syndrome	IMMUNE	IMM	Uveomeningoencephalitic Syndrome|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Xiao T et al. 1997	10451958	DRB1 * 0405			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Chinese journal of ophthalmology. 1997 Jul;33(4):268-71	The association of HLA-DR4 gene subtypes with Vogt-Koyanagi-Harada syndrome		142857	7869	1	1997	 It is suggested that DRB1 * 0405 be a susceptible subtype to VKH and the specific amino acid residue Ser (serine) at position 57 play an important role in the development of VKH syndrome. The molecular biological technique we used may be useful in studying the immunogenetic mechanism of VKH.											
142509	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Santos JL et al. 2001	11296153	DQB1(*)0302 and DQB1(*)0201				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Chile	KGB	3119	Hs.409934			American journal of epidemiology. 2001 Apr;153(8):794-8	Association between HLA-DQB1 alleles and type 1 diabetes in a case-parents study conducted in Santiago Chile.		604305	7874	1	2001												
142510		hypertrophic cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	6		HLA	29903802	30085613		Poncet D et al. 1982	7200000						caucasian	North America	KGB					Chest. 1982 Apr;81(4):466-72	HLA linkage vs association in hypertrophic cardiomyopathy. Evidence for the absence of an association in a heterogeneous Caucasian population.			7875	1	1982	We conclude that  although on the sixth chromosome there may be a susceptibility gene for hypertrophic cardiomyopathy, which segregates with a specific haplotype in a given family, no specific HLA-A, B, or C locus antigen was found useful as a marker. HLA-DR locus antigen typing might prove useful in this population.											
142511	Y	Takayasu's arteritis	CARDIOVASCULAR	CARD	Aortic Arch Syndromes|Takayasu's Arteritis			HLA-D				Takeuchi Y et al. 1990	1973884								KGB					Angiology. 1990 Jun;41(6):421-6	HLA-D region genomic polymorphism associated with Takayasu's arteritis.		142850	7876	1	1990												
142515	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Hall MA et al. 1990	1971269	HLA-DPw1				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KGB	3115	Hs.485130			Human immunology. 1990 Mar;27(3):220-8	Celiac disease is associated with an extended HLA-DR3 haplotype which includes HLA-DPw1.		142858	7880	1	1990												
142516		leprosy phenotypes	INFECTION	INF	Leprosy	6		HLA	29903802	30085613		Shaw MA et al. 2001	11477474							Brazil	KGB					Genes and immunity. 2001 Jun;2(4):196-204	Association and linkage of leprosy phenotypes with HLA class II and tumour necrosis factor genes.			7881	1	2001												
142517	Y	pemphigus vulgaris	IMMUNE	IMM	Autoimmune Diseases|Pemphigus	6	6p21.3	HLA-DQB1	32735641	32742374		Sinha AA et al. 1988	2894075					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Science. 1988 Feb;239(4843):1026-9	A newly characterized HLA DQ beta allele associated with pemphigus vulgaris.		604305	7882	1	1988												
142518		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Fathman CG et al. 1984	6609637	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Minnesota	KGB	3123	Hs.534322			American journal of epidemiology. 1984 May;119(5):813-29	The familial aggregation of rheumatoid arthritis and its relationship to the HLA-DR4 association.		142857	7883	1	1984												
142520		nonresponsiveness to mellitin: a component of bee venom	OTHER	OTH	Hypersensitivity	6		HLA	29903802	30085613		Lympany P et al. 1990	1974559								KGB					The Journal of allergy and clinical immunology. 1990 Aug;86(2):160-70	An HLA-associated nonresponsiveness to mellitin: a component of bee venom.			7885	1	1990												
142521	Y	Graves disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Maciel LM et al. 2001	11272094							Brazil	KGB					Thyroid. 2001 Jan;11(1):31-5	Association of the HLA-DRB1*0301 and HLA-DQA1*0501 alleles with Graves' disease in a population representing the gene contribution from several ethnic backgrounds.			7886	1	2001												
142522	Y	Host defense and inflammatory outcomes	IMMUNE	IMM	Infection|Leukemia	6		HLA	29903802	30085613		Rocha V et al. 2002	12393699								KGB					Blood. 2002 Dec;100(12):3908-18	Host defense and inflammatory gene polymorphisms are associated with outcomes after HLA-identical sibling bone marrow transplantation.			7887	1	2002												
142524	N	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA	6	6p21.3	HLA-DPB1	33151737	33162954	n	Rambausek M et al. 1992	1362799					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KGB	3115	Hs.485130			Nephrology, dialysis, transplantation. 1992 ;7(12):1256	HLA-DP region gene polymorphism in primary IgA nephropathy: no association.		142858	7889	1	1992												
142526		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Kikuoka N et al. 2001	11894970						Japanese	Japan	KGB					Clinical endocrinology. 2001 Nov;55(5):597-603	Cytotoxic T lymphocyte antigen 4 gene polymorphism confers susceptibility to type 1 diabetes in Japanese children: analysis of association with HLA genotypes and autoantibodies.			7891	1	2001	 The CTLA4 gene might confer a susceptibility to childhood-onset Type 1 diabetes in the Japanese population. The association between this CTLA4 polymorphism and the HLA genotype was similar for both major groups with HLA high-risk alleles. CTLA4 might contribute to the humoral immune response to GAD in newly diagnosed subjects.											
142527		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Jackson DG et al. 1995	7558930					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Human immunology. 1995 May;43(1):57-65	TAP2 association with insulin-dependent diabetes mellitus is secondary to HLA-DQB1.		604305	7892	1	1995												
142528	Y	acute graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	5		IL4	132037271	132046267		Hattori H et al. 2002	12420205					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Bone marrow transplantation. 2002 Nov;30(10):665-71	Polymorphisms of transforming growth factor-beta1 and transforming growth factor-beta1 type II receptor genes are associated with acute graft-versus-host disease in children with HLA-matched sibling bone marrow transplantation.		147780	7893	1	2002												
142529		multiple myeloma	CANCER	CAN	Multiple Myeloma	6		HLA	29903802	30085613		Pottern LM et al. 1992	1306102							Georgia|Michigan|New Jersey	KGB					Cancer epidemiology, biomarkers & prevention. 1992 Mar-Apr;1(3):177-82	HLA and multiple myeloma among black and white men: evidence of a genetic association.			7894	1	1992												
142530	Y	Chinese ankylosing spondylitis patients	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility	6	6p21.3	HLA-B	31344507	31432914		Lin XY et al. 1989	2576476	B27				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese		KGB	3106	Hs.77961			Tissue antigens. 1989 Nov;34(5):279-83	Association of RFLP of HLA class I genes with Chinese ankylosing spondylitis patients.		142830	7895	1	1989												
142531	Y	congenital adrenal hyperplasia (CAH)	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital			CYP21	32090516	32111160		Manfras BJ et al. 1993	8365724								KGB					Human genetics. 1993 Aug;92(1):33-9	Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.		201910	7896	1	1993												
142534		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6		HLA	29903802	30085613		Olerup O et al. 1990	1973684								KGB					Immunogenetics. 1990 ;32(1):41-4	The narcolepsy-associated DRw15 DQw6 Dw2 haplotype has no unique HLA-DQA or -DQB restriction fragments and does not extend to the HLA-DP subregion.			7899	1	1990												
142535	Y	pre-eclampsia	REPRODUCTION	REP	Proteinuria|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kilpatrick DC et al. 1989	2572795	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Lancet. 1989 Nov;2(8671):1063-5	Association between susceptibility to pre-eclampsia within families and HLA DR4.		142857	7900	1	1989												
142536	Y	systemic scleroderma	IMMUNE	IMM	Scleroderma, Systemic	6		HLA	29903802	30085613		Luderschmidt C et al. 1987	3498440								KGB					Archives of dermatology. 1987 Sep;123(9):1188-91	Association of progressive systemic scleroderma to several HLA-B and HLA-DR alleles.			7901	1	1987												
142538	Y	asthma	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Kalpaklioglu AF et al. 2002	12197571							Turkey	KGB					Annals of allergy, asthma & immunology. 2002 Aug;89(2):155-8	Possible association between cockroach allergy and HLA class II antigens.			7903	1	2002	 It is suggested that the higher frequencies of HLA-DRB1*0701 and HLA-DQB1*02 alleles are probably related to atopy rather than an association between class II antigens and cockroach allergy in this group of polysensitized, atopic individuals. Further studies may lead to a better understanding of the genetically determined susceptibility, and evaluate the individual effects of each locus (or allele) on sensitivity to specific allergens in the Turkish population.											
142540	Y	celiac disease	IMMUNE	IMM	Celiac Disease	6		HLA	29903802	30085613		Howell MD et al. 1988	2893373								KGB					Proceedings of the National Academy of Sciences of the United States of America. 1988 Jan;85(1):222-6	An extended HLA-D region haplotype associated with celiac disease.			7905	1	1988												
142542		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Santos-Aguado J et al. 1987	3492235	DQw1				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Scotland	KGB	3119	Hs.409934			Brain. 1987 Feb;110 ( Pt 1):181-96	Multiple sclerosis in north-east Scotland. An association with HLA-DQw1.		604305	7907	1	1987												
142543	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Schmitt-Egenolf M et al. 2001	11556968	Cw6				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Germany	KGB	3107	Hs.591791			Tissue antigens. 2001 May;57(5):440-6	Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families.		142840	7908	1	2001												
142544		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Oka A et al. 1999	10545595	Cw6				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791			Human molecular genetics. 1999 Nov;8(12):2165-70	Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene.		142840	7909	1	1999												
142546		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	6	6p21.3	HLA-DPB1	33151737	33162954		Ito H et al. 1998	9756407	DPA1 *0202, DPB1 *0501				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Japanese	Japan	KGB	3115	Hs.485130			Tissue antigens. 1998 Aug;52(2):179-82	HLA-DP-associated susceptibility to the optico-spinal form of multiple sclerosis in the Japanese.		142858	7911	1	1998												
142547	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	6		HLA	29903802	30085613		Tighe MR et al. 1992	1357780						southern European	Europe	KGB					Tissue antigens. 1992 Aug;40(2):90-7	HLA class II alleles associated with celiac disease susceptibility in a southern European population.			7912	1	1992												
142548	Y	defective DR beta 4 chain expression to the HLA-DRB1 gene	OTHER	OTH				HLA-DRB4				Sutton VR et al. 1988	2901408								KGB	3126	Hs.612586			Human immunology. 1988 Jun;22(2):123-34	Mapping of a restriction fragment length polymorphism associated with defective DR beta 4 chain expression to the HLA-DRB1 gene.			7913	1	1988												
142549	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Polymyalgia Rheumatica|Giant Cell Arteritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Jacobsen S et al. 2002	12375325	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of rheumatology. 2002 Oct;29(10):2148-53	Mannose-binding lectin variant alleles and HLA-DR4 alleles are associated with giant cell arteritis.		142857	7914	1	2002	 We found MBL variant alleles and HLA-DR4 alleles to be weak susceptibility markers for GCA. In patients with PMR/GCA, MBL variant alleles were associated with signs of increased inflammatory activity and clinical signs of arteritic manifestations. This was not found for HLA-DR4 alleles. These findings indicate that HLA-DR4 and MBL are contributing to the pathophysiology of GCA at different levels in the disease process.											
142551	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Seki SS et al. 2001	11696218						Japanese	Japan	KGB					Tissue antigens. 2001 Aug;58(2):71-6	Stratification analysis of MICA triplet repeat polymorphisms and HLA antigens associated with ulcerative colitis in Japanese.			7916	1	2001												
142552		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Jenisch S et al. 1999	10599883								KGB					Tissue antigens. 1999 Nov;54(5):439-49	Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.			7917	1	1999												
142553	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Park SH et al. 2002	12068141	B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Korean	Korea	KGB	3106	Hs.77961			Journal of Korean medical science. 2002 Jun;17(3):366-70	Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease.		142830	7918	1	2002												
142554	Y	cardiac sarcoidosis	CARDIOVASCULAR	CARD	Cardiomyopathies|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Naruse TK et al. 2000	10958356	DQB1*0601				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Tissue antigens. 2000 Jul;56(1):52-7	HLA-DQB1*0601 is primarily associated with the susceptibility to cardiac sarcoidosis.		604305	7919	1	2000												
142555	Y	pulmonary tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6		HLA	29903802	30085613		Papiha SS et al. 1987	2966486							India	KGB					Tubercle. 1987 Sep;68(3):159-67	Association of HLA and other genetic markers in South Indian patients with pulmonary tuberculosis.			7920	1	1987												
142558		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Ahmad T et al. 2003	12632436	HLA-B*51 or HLA-B*5701				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Great Britain	KGB	3106	Hs.77961			Arthritis and rheumatism. 2003 Mar;48(3):807-13	Mapping the HLA association in Behcet's disease: a role for tumor necrosis factor polymorphisms?		142830	7923	1	2003	 The TNF-1031C allele is independently associated with susceptibility to BD in Caucasoid patients. Further studies will be required to determine the functional effects of this polymorphism, its influence in disease pathogenesis, and its role in other ethnic groups.											
142560	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Ito M et al. 1988	2903835	DR4,DR9			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	KGB	3123	Hs.534322			Diabetes. 1988 Dec;37(12):1633-6	Association of HLA-DR phenotypes and T-lymphocyte-receptor beta-chain-region RFLP with IDDM in Japanese.		142857	7925	1	1988												
142561	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Brennan P et al. 1997	9259416	DRB1*0301, *0401			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis and rheumatism. 1997 Aug;40(8):1383-6	Allelic markers close to prolactin are associated with HLA-DRB1 susceptibility alleles among women with rheumatoid arthritis and systemic lupus erythematosus.		142857	7926	1	1997	 These data indicate that there may be linkage disequilibrium between HLA-DRB1 alleles and microsatellite marker alleles close to the prolactin gene among women with RA and SLE. This suggests the possibility of extended haplotypes encoding for HLA-DRB1 susceptibility and high prolactin production, which contribute to susceptibility to both RA and SLE.											
142562	Y	epizootic ulcerative syndrome	OTHER	OTH	Gram-Negative Bacterial Infections|Fish Diseases|Diarrhea|							Rahman M et al. 2002	11823203							Bangladesh	KGB					Applied and environmental microbiology. 2002 Feb;68(2):650-5	Identification and characterization of pathogenic Aeromonas veronii biovar sobria associated with epizootic ulcerative syndrome in fish in Bangladesh.			7927	1	2002												
142565	Y	dyslipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined|Insulin Resistance|Hypertriglyceridemia	15	15q21-q23	LIPC	56511466	56648364		Pihlajamaki J et al. 2000	10894818	G-250A promoter variant		promoter		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Arteriosclerosis, thrombosis, and vascular biology. 2000 Jul;20(7):1789-95	G-250A substitution in promoter of hepatic lipase gene is associated with dyslipidemia and insulin resistance in healthy control subjects and in members of families with familial combined hyperlipidemia.		151670	7930	1	2000	We conclude that  the G-250A promoter variant of the HL gene is associated with dyslipidemia and insulin resistance. Mechanisms via which this polymorphism could affect insulin sensitivity remain to be elucidated.											
142566	N	Myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	HLA-B	31344507	31432914	n	Manz MG et al. 1998	9817446	B8				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			Journal of neuroimmunology. 1998 Oct;90(2):187-91	Myasthenia gravis and tumor necrosis factor beta polymorphisms: linkage disequilibrium but no association beyond HLA-B8.		142830	7931	1	1998												
142569	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	6	6p21.3	HLA-A	29963507	30085130		Lu QL et al. 2000	10657015					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			The Journal of pathology. 2000 Feb;190(2):169-76	Decreased HLA-A expression in prostate cancer is associated with normal allele dosage in the majority of cases.		142800	7934	1	2000												
142570	Y	schistosomal worm antigen	INFECTION	INF		6		HLA	29903802	30085613		Poncet D et al. 1980	6967941								KGB					The Journal of experimental medicine. 1980 Aug;152(2 Pt 2):314s-318s	Association between an HLA haplotype and low responsiveness to schistosomal worm antigen in man.			7935	1	1980												
142571		Graves disease	IMMUNE	IMM	Graves Disease|Disease Susceptibility	6		HLA	29903802	30085613		Cavan DA et al. 1994	8306482						Chinese	China|Hong Kong	KGB					Clinical endocrinology. 1994 Jan;40(1):63-6	The HLA association with Graves' disease is sex-specific in Hong Kong Chinese subjects.			7936	1	1994	 These findings call in question the role of HLA genes in disease susceptibility but suggest a role for HLA in protection from Graves' disease.											
142573	Y	autoimmune thyroid disease	IMMUNE	IMM	Thyroid Diseases|Autoimmune Diseases|Disease Susceptibility|	6		HLA	29903802	30085613		Tamai H et al. 1994	8288722								KGB					The Journal of clinical endocrinology and metabolism. 1994 Jan;78(1):94-7	Resistance to autoimmune thyroid disease is associated with HLA-DQ.			7938	1	1994												
142574	Y	low responsiveness to hepatitis B vaccine	OTHER	OTH		6		HLA	29903802	30085613		Hsu HY et al. 1993	8310763						Chinese		KGB					Vaccine. 1993 Nov;11(14):1437-40	Association of HLA-DR14-DR52 with low responsiveness to hepatitis B vaccine in Chinese residents in Taiwan.			7939	1	1993												
142575	Y	primary biliary cirrhosis	OTHER	OTH	Liver Cirrhosis, Biliary|Disease Susceptibility|Genetic Predisposition to Disease|	6		HLA	29903802	30085613		Underhill J et al. 1992	1359995								KGB					Hepatology (Baltimore, Md). 1992 Dec;16(6):1404-8	Susceptibility to primary biliary cirrhosis is associated with the HLA-DR8-DQB1*0402 haplotype.			7940	1	1992												
142578		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Mizuki N et al. 1999	10513813	B*51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese	Japan	KGB	3106	Hs.77961			Arthritis and rheumatism. 1999 Sep;42(9):1961-6	Association analysis between the MIC-A and HLA-B alleles in Japanese patients with Behcet's disease.		142830	7943	1	1999	 These results imply that the real disease susceptibility gene involved in the development of Beh??'s disease is the HLA-B*51 allele itself and that the significant increase of the MIC-A009 allele in the patient group results secondarily from a strong linkage disequilibrium with HLA-B*51.											
142579	Y	psoriasis	IMMUNE	IMM	Psoriasis	6		HLA	29903802	30085613		Cao K et al. 1993	8504697								KGB					Chinese medical journal. 1993 Feb;106(2):132-5	Association between HLA antigens and families with psoriasis vulgaris.			7944	1	1993												
142581	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Susceptibility|	6		HLA	29903802	30085613		Zavaglia C et al. 1998	9537846								KGB					Journal of hepatology. 1998 Jan;28(1):7-Jan	Association between HLA class II alleles and protection from or susceptibility to chronic hepatitis C.			7946	1	1998	 Immunogenetic factors may play a role in determining both protection from and susceptibility to chronic hepatitis C, the trans-dimer DQA1*0201-DQB1*0201 predisposing to and the DRB1*1104, DQA1*0501, DQB1*0301 haplotype protecting from chronic hepatitis C.											
142582		hemochromatosis	METABOLIC	MET	Thalassemia|Hemochromatosis|Hemosiderosis|	6		HLA	29903802	30085613		Settarova DA et al. 1990	2361583								KGB					Gematologiia i transfuziologiia. 1990 Mar;35(3):16-8	Possibility of the development of non-transfusion hemosiderosis in beta-thalassemia caused by association with HLA-linked hemochromatosis trans Vozmozhnost' netransfuzionnogo gemosideroza pri beta-thalassemii obuslovlennogo assotsiatsiei s gemokhromat			7947	1	1990												
142584		celiac disease	IMMUNE	IMM	Celiac Disease|Dermatitis Herpetiformis	6		HLA	29903802	30085613		Hall MA et al. 1993	8138424								KGB					Human immunology. 1993 Dec;38(4):284-92	HLA-DQ2 second-domain polymorphisms may explain increased trans-associated risk in celiac disease and dermatitis herpetiformis.			7949	1	1993	We conclude that  individuals positive for the DR3,7 genotype have the potential to express a unique trans-encoded heterodimer with enhanced ability to predispose people to CD.											
142585	Y	alveolar echinococcosis	INFECTION	INF	Echinococcosis, Hepatic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Li F et al. 2000	11798795	DRB1 * 040x , * 0701			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	KGB	3123	Hs.534322			Zhonghua yi xue za zhi. 2000 Jun;80(6):414-6	Association of HLA-DRB1 allele and the susceptibility to alveolar echinococcosis in the west of China		142857	7950	1	2000	 Susceptibility to AE is strongly associated with the HLA-DRB1 * 040x allele. The high prevalence of human AE in this region was associated with genetic factor. HLA-DRB1 * 0701 geners resistant to Echinococcus multilocularis metacestode infection.											
142587	Y	alpha 1-antitrypsin deficiency	OTHER	OTH	Liver Diseases|alpha 1-Antitrypsin Deficiency	6	6p21.3	HLA-DRB1	32593131	32665559		Doherty DG et al. 1990	1975247	DR3, DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Hepatology (Baltimore, Md). 1990 Aug;12(2):218-23	HLA phenotypes and gene polymorphisms in juvenile liver disease associated with alpha 1-antitrypsin deficiency.		142857	7952	1	1990												
142591	N	periodontitis	IMMUNE	IMM	Periodontitis	6	6p21.3	HLA-DQB1	32735641	32742374	n	Hodge PJ et al. 1999	10488751					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	caucasian	Europe	KGB	3119	Hs.409934			Tissue antigens. 1999 Aug;54(2):205-7	No association with HLA-DQB1 in European Caucasians with early-onset periodontitis.		604305	7956	1	1999												
142592		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Fimmers R et al. 1989	2567252								KGB					Genetic epidemiology. 1989 ;6(1):107-12	Association and sibpair analysis for the HLA Gm Km and insulin polymorphisms in multiplex IDDM families.			7957	1	1989												
142593	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Zamani M et al. 1996	8950668	DRB1Lys71+			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Denmark	KGB	3123	Hs.534322			Journal of medical genetics. 1996 Nov;33(11):899-905	Linkage and association of the HLA gene complex with IDDM in 81 Danish families: strong linkage between DR beta 1Lys71+ and IDDM.		142857	7958	1	1996												
142594	N	Prepubertal male pseudohermaphroditism	DEVELOPMENTAL	DEV	Pseudohermaphroditism	6		HLA	29903802	30085613	n	Arnhold IJ et al. 1988	3166023								KGB					Journal of endocrinological investigation. 1988 Apr;11(4):319-22	Prepubertal male pseudohermaphroditism due to 17-ketosteroid reductase deficiency: diagnostic value of a hCG test and lack of HLA association.			7959	1	1988												
142596		Childhood Diabetes	METABOLIC	MET	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Langholz B et al. 1995	8557177						Finnish	Finland	KGB					Genetic epidemiology. 1995 ;12(5):441-53	Variation in HLA-associated risks of childhood insulin-dependent diabetes in the Finnish population: I. Allele effects at A B and DR loci. DiMe Study Group. Childhood Diabetes in Finland.			7961	1	1995												
142597		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Newton DJ et al. 1998	9587743								KGB					European journal of immunogenetics. 1998 Feb;25(1):39-41	TNFB gene polymorphism in insulin-dependent diabetes mellitus: association with HLA-DR alleles.			7962	1	1998												
142598	Y	pre-eclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		O'Brien M et al. 2001	11766889					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			KGB	3135	Hs.512152			Cellular and molecular life sciences. 2001 Nov;58(13-Dec):1943-9	Altered HLA-G transcription in pre-eclampsia is associated with allele specific inheritance: possible role of the HLA-G gene in susceptibility to the disease.		142871	7963	1	2001												
142600	N	Childhood Stroke After Varicella	OTHER	OTH	Chickenpox	6	6p21.3	HLA-B	31344507	31432914	n	Kluger G 2001	11764184	HLA-B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			European journal of paediatric neurology. 2001 ;5(6):259-60			142830	7965	1	2001												
142601		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Meddeb-Garnaoui A et al. 2001	11334675				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Mediterranean Region	KGB	3123	Hs.534322			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		142857	7966	1	2001												
142604	Y	periodontitis	IMMUNE	IMM		6		HLA	29903802	30085613		Price P et al. 1999	10551423								KGB					Tissue Antigens	Periodontal attachment loss in HIV-infected patients is associated with the major histocompatibility complex 8.1 haplotype (HLA-A1 B8 DR3).			7969	1	1999												
142606	N	Inflammatory Bowel Disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522	n	Lantermann A 2002	12073072	HLA-DPA1				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2	German. South African. and South Korean	South Africa|Korea|Germany	KGB	3113	Hs.347270			International journal of colorectal disease. 2002 Jul;17(4):238-44			142880	7971	1	2002	 HLA-DPA1 is not a major determinant of IBD risk in any of the three populations. The transmission distortion observed in the German cohort may indicate an extended haplotype, suggesting another disease relevant gene in the vicinity of HLA-DPA.											
142607	Y	bone marrow transplant	METABOLIC	MET		6	6p21.3	HLA-DPB1	33151737	33162954		Potolicchio I et al. 1996	8932283	position 69				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KGB	3115	Hs.485130	helper T lymphocyte precursor frequencies		Transplantation. 1996 Nov;62(9):1347-52	HLA-DPB1 mismatch at position 69 is associated with high helper T lymphocyte precursor frequencies in unrelated bone marrow transplant pairs.		142858	7972	1	1996												
142608		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Disease Susceptibility|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Perichon 1991	1741930								KCB					Allergie et immunologie. 1991 Sep;23(7):301-7				7973	1	1991												
142609		Asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DPB1	33151737	33162954		Lympany 1993	8335847	DPB1*0401,HLA-DQw2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			KCB	3115	Hs.485130			The Journal of allergy and clinical immunology. 1993 Jul;92(1 Pt 1):114-23			142858	7974	1	1993	 We have shown, however, that there is a significant decrease in the incidence of DPB1*0401 in both aspirin-tolerant and aspirin-intolerant subjects with asthma in both populations studied.											
142610		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Disease Susceptibility|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Perichon 1991	1741930								KCB					Allergie et immunologie. 1991 Sep;23(7):301-7				7975	1	1991												
142612		Asthma	IMMUNE	IMM	Asthma|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hsieh 1991	1801309	HLA-DQw2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		China	KCB	3119	Hs.409934			Tissue antigens. 1991 Oct;38(4):181-2			604305	7978	1	1991												
142614		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Chromosome Deletion	6	6p21.3	HLA-DRB1	32593131	32665559		Kumar A et al. 1991	2044237	DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Clinical immunology and immunopathology. 1991 Jul;60(1):55-64	DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus.		142857	7980	1	1991												
142616	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Wallin J et al. 1988	2830890	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis Rheum	A DR4-associated DR-DQ haplotype is significantly associated with rheumatoid arthritis.		142857	7982	1	1988												
142618	Y	high-grade squamous intraepithelial lesions of the cervix	OTHER	OTH	Papovaviridae Infections|Tumor Virus Infections|Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms			HPV16				Giannoudis A et al. 2001	11308254								KGB					British journal of cancer. 2001 Apr;84(8):1058-63	Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.			7984	1	2001												
142619	Y	autism	PSYCH	PSY	Mental Retardation|Autistic Disorder	11	11p15.5	HRAS	522241	525550		Herault J et al. 1993	8098541				v-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			KGB	3265	Hs.37003			Psychiatry research. 1993 Mar;46(3):261-7	Possible association of c-Harvey-Ras-1 (HRAS-1) marker with autism.		190020	7985	1	1993	However, we report a positive association between autism and the locus containing the gene for HRAS-1.											
142621	N	diabetes, type 1	IMMUNE	IMM		6	6p21.3	HSPA1B	31903502	31906010	n	Pugliese A et al. 1992	1351854				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			KGB	3304	Hs.274402			Diabetes. 1992 Jul;41(7):788-91	No independent association between HSP70 gene polymorphism and IDDM.		603012	7988	1	1992												
142622	Y	clozapine-induced agranulocytosis	OTHER	OTH	Agranulocytosis|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Corzo D et al. 1995	7579351					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			KGB	3303	Hs.405994			Blood. 1995 Nov;86(10):3835-40	The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups.		140550	7989	1	1995	This finding supports our hypothesis that a dominant gene within the MHC region (marked by HSP70-1 and HSP70-2), but not necessarily HLA, is associated with CA in two different ethnic groups.											
142624		increased stability and serum half-life and compensates for mutagenesis-induced defects	METABOLIC	MET				hTSH				Grossmann M et al. 1997	9261143								KGB					The Journal of biological chemistry. 1997 Aug;272(34):21312-6	Human thyroid-stimulating hormone (hTSH) subunit gene fusion produces hTSH with increased stability and serum half-life and compensates for mutagenesis-induced defects in subunit association.			7991	1	1997												
142625	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease			HUMPONA				Zama T et al. 1997	9437206	192Arg					Japanese	Japan	KGB					Arteriosclerosis, thrombosis, and vascular biology. 1997 Dec;17(12):3565-9	A 192Arg variant of the human paraoxonase (HUMPONA) gene polymorphism is associated with an increased risk for coronary artery disease in the Japanese.			7992	1	1997												
142626	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease			HUMPONA			n	Antikainen M et al. 1996	8770857							Finland	KGB					The Journal of clinical investigation. 1996 Aug;98(4):883-5	The Gln-Arg191 polymorphism of the human paraoxonase gene (HUMPONA) is not associated with the risk of coronary artery disease in Finns.			7993	1	1996												
142630	N	Eosinophilia	OTHER	OTH	Eosinophilia	5	5q31.1	IL3	131424245	131426795	n	Rioux 1998	9758611				interleukin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3			KGB	3562	Hs.694			American journal of human genetics. 1998 Oct;63(4):1086-94			147740	7997	1	1998	No functional sequence polymorphisms were found within the promoter, the exons, or the introns of any of these genes or within the IL-3/GM-CSF enhancer, suggesting that the primary defect in FE is not caused by a mutation in any one of these genes but, rather, is caused by another gene in the area.											
142631	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL-3	131424246	131426795	n	Hakonarson H 2001	11739132	C1358T			interleukin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Icelandic	Iceland	KCB	3562	Hs.694			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147740	7998	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
142633	N	Asthma	IMMUNE	IMM	Asthma|Rhinitis|Conjunctivitis|Hypersensitivity			IL4R1			n	Torres-Galvan M 2001	11167377	152-173 bp					Spanish	Spain	KCB					Allergy. 2001 Feb;56(2):159-63				8000	1	2001	 IL4-R1 and FcepsilonRI-betaca markers have not proved to be useful genetic markers for linkage or association studies in our population.											
142634	N	systemic vasculitis	CARDIOVASCULAR	CARD	Keratitis|Vasculitis			ILRA			n	McKibbin M et al. 2000	10729297								KGB					The British journal of ophthalmology. 2000 Apr;84(4):395-8	No strong association between alleles of tumour necrosis factor alpha and interleukin-1 receptor antagonist and corneal melting associated with systemic vasculitis.			8001	1	2000	 The results suggest that the polymorphic alleles of TNF-alpha and IL-1Ra studied play little or no part in the susceptibility to corneal melting among these patients with systemic vasculitis.											
146302		H. pylori infection	INFECTION	INF		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ishida, Y.  et al. 2006	17003844				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Int J Med Sci    2006    3(4)    135-40	Eradication rate of Helicobacter pylori according to genotypes of CYP2C19, IL-1B, and TNF-A		124020		CDC	2006	The present study confirmed the low eradication rate for RM.											
146357	P		NORMALVARIATION	NV		10	10q24	CYP2C9	96688429	96739137		Zainuddin, Z.  et al. 2006	16635054				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese;Caucasian;Indian		CDC GDP info	1559	Hs.282624			J Clin Pharm Ther    2006    31(2)    187-91	Malaysian Indians are genetically similar to Caucasians		601130		CDC	2006	CYP2C9*2 and *3 were identified in our population. Indians are similar to Caucasians in terms of CYP2C9 genotypes and thus may respond to CYP2C9 substrates differently when compared with the Malays and Chinese in Malaysia.											
142642	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	4	4q13	UGT2B15	69194909	69218969	n	Gsur A et al. 2002	12010866			coding sequence	UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1	Caucasian	Australia	KGB	7366	Hs.150207			Cancer epidemiology, biomarkers & prevention. 2002 May;11(5):497-8	A polymorphism in the UDP-Glucuronosyltransferase 2B15 gene (D85Y) is not associated with prostate cancer risk.		600069	8011	1	2002		Case:190; Control:190										
146261		HIV	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	19	19q13.2	CYP2B6	46189043	46216141		Motsinger, A. A.  et al. 2006	17047492				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Pharmacogenet Genomics    2006    16(11)    837-45	Multilocus genetic interactions and response to efavirenz-containing regimens		123930		CDC	2006	Multilocus genetic interactions between variant drug metabolism and transporter genes may predict efavirenz pharmacokinetics and treatment responses.		efavirenz nelfinavir nucleoside analogues									
146271	P		NORMALVARIATION	NV	HIV Infections|Heroin Dependence	19	19q13.2	CYP2B6	46189043	46216141		Xu, B. Y.  et al. 2007	17465455				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Chinese;Caucasian;Asian		CDC GDP info	1555	Hs.1360			World J Gastroenterol    2007    13(14)    2100-3	Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations		123930		CDC	2007	This was the first study to document the spectrum of CYP2B6 allelic variants and genotypes in a southern Chinese population.											
145807			CANCER	CAN	Neoplasms|Inflammation	5	5q31.1	CSF2	131437383	131439758		Huang, H. Y.  et al. 2007	17355643				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2	African American;Caucasian		CDC GDP info	1437	Hs.1349			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		138960		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
146130	P		NORMALVARIATION	NV		15	15q22-q24	CYP1A1	72798942	72804930		Martinez-Labarga, C.  et al. 2007	17620151				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	European;Asian		CDC GDP info	1543	Hs.72912			Ann Hum Biol    2007    34(4)    425-36	Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya		108330		CDC	2007	Statistical analyses showed that Tuaregs from Libya are located in a intermediate position between south Saharan populations on one side and the Europeans and the Asians on the other.											
146234		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Fukami, T.  et al. 2005	15900015				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese;Korean		CDC GDP info	1548	Hs.439056			Drug Metab Dispos    2005    33(8)    1202-10	Characterization of novel CYP2A6 polymorphic alleles (CYP2A6*18 and CYP2A6*19) that affect enzymatic activity		122720		CDC	2005												
145455		infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Chromosome Deletion|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Sobczynska-Tomaszewska, A.  et al. 2006	16572913				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Polish		CDC GDP info	1080	Hs.489786			J Reprod Med    2006    51(2)    120-7	Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility		602421		CDC	2006	Molecular diagnosis of the CFTR gene, Y chromosome deletion analysis and genetic counseling are necessary diagnostic elements for patients with male infertility, especially if the are included in an ART program.											
145791	N	C-reactive protein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Diabetes Mellitus, Type 2	1	1q21-q23	CRP	157948702	157951003		Lakoski, S. G.  et al. 2007	17382928				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Caucasian		CDC GDP info	1401	Hs.76452			Exp Mol Pathol    2007	The association between innate immunity gene (IRAK1) and C-reactive protein in the Diabetes Heart Study		123260		CDC	2007	Variation in the IRAK1 gene is associated with CRP concentration in Caucasian women in DHS.											
142655	Y	Maternally inherited deafness	OTHER	OTH				mDNA.				Tessa A et al. 2001	11313749								KGB					European journal of human genetics. 2001 Feb;9(2):147-9	Maternally inherited deafness associated with a T1095C mutation in the mDNA.			8028	1	2001												
145108		oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Sathyan, K. M.  et al. 2006	16488657				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Oral Oncol    2006	Influence of single nucleotide polymorphisms in H-Ras and cyclin D1 genes on oral cancer susceptibility		168461		CDC	2006												
145153		stromal derived factor	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Verma, R.  et al. 2007	17240189				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Indian;Asian		CDC GDP info	1231	Hs.644637			J Clin Virol    2007	Distribution of CCR5Delta32, CCR2-64I and SDF1-3'A and plasma levels of SDF-1 in HIV-1 seronegative North Indians		601267		CDC	2007												
145002	P	calcium	NORMALVARIATION	NV		3	3q21-q24	CASR	123385219	123488032		Wang, O.  et al. 2007	17331389	A986S and G990R			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Chinese;Caucasian		CDC GDP info	846	Hs.435615			Zhonghua Nei Ke Za Zhi    2007    46(1)    43-7	Association of calcium-sensing receptor gene polymorphism with serum calcium level in healthy young Han women in Beijing.		601199		CDC	2007	(1) There are A986S and G990R polymorphisms in CASR gene in Han nationality in Beijing area.											
144856	P	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Song, C.  et al. 2006	16456781				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    27-31	BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China.		113705		CDC	2006	Two novel mutations in BRCA1 may be mutations characterized to familial breast cancer of Chinese Shanghai population.											
144958		body mass insulin	METABOLIC	MET		2	2q37.3	CAPN10	241174817	241205795		Pihlajamaki, J.  et al. 2006	16691381				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			Diabetologia    2006	Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes		605286		CDC	2006	 SNP-43 of CAPN10 may contribute to the risk of diabetes by regulating abdominal obesity in subjects with high risk of type 2 diabetes.											
144979			INFECTION	INF	Sepsis|Genetic Predisposition to Disease	11	11q22.3	CASP12				Kachapati, K.  et al. 2006	16917906				Caspase 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF486844	Asian		CDC GDP info	120329	Hs.476989			Hum Mutat    2006    27(9)    975	Population distribution of the functional caspase-12 allele		608633		CDC	2006												
144193			NORMALVARIATION	NV		5		AHRR	357291	491405		Tiido, T.  et al. 2007	17244640				aryl-hydrocarbon receptor repressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB033060			CDC GDP info	57491	Hs.50823			Mol Hum Reprod    2007	Modifying effect of the AR gene trinucleotide repeats and SNPs in the AHR and AHRR genes on the association between persistent organohalogen pollutant exposure and human sperm Y		606517		CDC	2007	 The endocrine-disrupting action of POPs, in relation to the observed changes in sperm Y:X ratio, may be modulated by the genes involved in sex steroid and dioxin-mediated pathways.		organohalogen pollutants, persistent									
144416	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p24-p23	APOB	21077805	21120450		Kokubo, Y.  et al. 2006	17137217				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		107730		CDC	2006												
144559		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	7	7p14	AQP1	30917992	30931656		Elliott, L.  et al. 2007	17408468				Aquaporin 1 (channel-forming integral protein, 28kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198098.1			CDC GDP info	358	Hs.76152			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		107776		CDC	2007												
143763		factor VIII levels	HEMATOLOGICAL	HEM	Thrombosis	9	9q34.1-q34.2	ABO	135120383	135140451		Marchetti, G.  et al. 2006	16956829				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Haematologica    2006    91(9)    1261-3	Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women		110300		CDC	2006												
143925		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	4	4q21-q23	ADH1C	100476671	100492940		Park, J. W.  et al. 2006	16415175				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		103730		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
144067			NORMALVARIATION	NV		5	5q31-q32	ADRB2	148186348	148188381		Hamajima, N.  et al. 2002	12164325				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		109690		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
143652	Y	ulcerative colitis	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Farnood, A.  et al. 2007	17242936	ABCB1  C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Iranian		CDC GDP info	5243	Hs.489033			Int J Colorectal Dis    2007	The frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis		171050		CDC	2007	This study suggests that C3435T polymorphism of the MDR1 gene has an association with ulcerative colitis in Iranian population as previously reported in western countries.											
143706			METABOLIC	MET	Cholestasis	7	7q21.1	ABCB4	86869296	86942955		Lang, T.  et al. 2006	16763017				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2	Japanese;Caucasian;Korean		CDC GDP info	5244	Hs.287827			Drug Metab Dispos    2006	GENETIC VARIABILITY, HAPLOTYPE STRUCTURES, AND ETHNICAL DIVERSITY OF HEPATIC TRANSPORTERS MDR3 (ABCB4) AND BSEP (ABCB11)		171060		CDC	2006												
143726		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	13	13q32	ABCC4	94470089	94751684		Anderson, P. L.  et al. 2006	16791115				ATP-binding cassette, sub-family C (CFTR/MRP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005845			CDC GDP info	10257	Hs.508423			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		605250		CDC	2006												
143634	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Gervasini, G.  et al. 2006	17120199				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Cancer    2006	Adenosine triphosphate-binding cassette B1 (ABCB1) (multidrug resistance 1) G2677T/A gene polymorphism is associated with high risk of lung cancer		171050		CDC	2006	The current results taken together suggest that, aside from other known causes of lung cancer, such as tobacco smoke, the existence of polymorphisms in the ABCB1 gene and, specifically, the presence of the G2677T mutation can be crucial in conferring susceptibility to lung cancer.											
143640	N	methadone dose requirement	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	7	7q21.1	ABCB1	86970883	87180500		Coller, J. K.  et al. 2006	17178268				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    80(6)    682-90	ABCB1 genetic variability and methadone dosage requirements in opioid-dependent individuals		171050		CDC	2006	Although ABCB1 genetic variability is not related to the development of opioid dependence, identification of variant haplotypes may, after larger prospective studies have been performed, provide clinicians with a tool for methadone dosage individualization.											
143648	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	7	7q21.1	ABCB1	86970883	87180500		Park, B. L.  et al. 2006	17202846			promoter	ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		171050		CDC	2006												
143582	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Katz, D. A.  et al. 2006	16513443				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		171050		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
143605	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Li, Y.  et al. 2006	16847760				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese		CDC GDP info	5243	Hs.489033			Swiss Med Wkly    2006    136(23-24)    377-82	Distribution of the functional MDR1 C3435T polymorphism in the Han population of China		171050		CDC	2006	There was no significant difference between females and males (p = 0.92, OR = 1.02, 95%CI: 0.67-1.57) in the present study. The frequency of C-allele was similar to that of some populations in Asia/Europe and was lower than that of populations in Africa. When compared with the study on Singapore-Chinese, some differences were found. The results of this study would be useful for individualised therapy of some diseases, and could have a prognostic implication for the Chinese Han population.											
143626	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Turgut, S.  et al. 2006	17080296				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian;German;Turkish		CDC GDP info	5243	Hs.489033			Mol Biol Rep    2006	Genotype and allele frequency of human multidrug resistance (MDR1) gene C3435T polymorphism in Denizli province of Turkey		171050		CDC	2006												
154644	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	8	8q24	TNFRSF11B	120004976	120033492		Wohlfahrt, J. C.  et al. 2006	16512757				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDP info	4982	Hs.81791			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		602643		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
154687		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	13	13q32-34	TNFSF13B	107719977	107757366		Gottenberg, J. E.  et al. 2006	16507129			promoter	Tumor necrosis factor (ligand) superfamily, member 13b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006573.3	Caucasian;French		CDC GDP info	10673	Hs.525157			Arthritis Res Ther    2006    8(1)    R30	No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjogren's syndrome		603969		CDC	2006	BAFF gene polymorphism is neither involved in genetic predisposition to pSS nor associated with a specific pattern of antibody production.											
155039	Y	osteoporosis, postmenopausal	PHARMACOGENOMIC	PHARM		12	12q12-q14	VDR	46521586	46585081		Zhang, Z.  et al. 2006	16604479				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    129-33	Association of bone metabolism related genes polymorphisms with the effect of raloxifene hydrochloride on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis.		601769		CDC	2006	The effect of RLX on BMD in postmenopausal women with osteoporosis is regulated by the polymorphisms of Fok I of VDR gene and Pvu II of ESR1 gene.		raloxifene hydrochloride									
153869		rifampicin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Niemi, M.  et al. 2006	16847425				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Pharmacogenet Genomics    2006    16(8)    565-568	Effect of SLCO1B1 polymorphism on induction of CYP3A4 by rifampicin		604843		CDC	2006												
154245		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Atherosclerosis|Genetic Predisposition to Disease	7	7q22	TFPI2	93353680	93358001		Siegling, S.  et al. 2006	16247609			promoter	Tissue factor pathway inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK129833			CDC GDP info	7980	Hs.438231			Ann Hematol    2006    85(1)    32-7	Analysis of sequence variations in the promoter region of the human tissue factor pathway inhibitor 2 gene in apoplectic patients and blood donors		600033		CDC	2006	our present study shows that the transcription of TFPI-2 is changed by single nucleotide polymorphisms and that the sequence variations in transcription factor binding sites of the TFPI-2 promoter may influence the regulation of this gene.											
154348			HEMATOLOGICAL	HEM	Blood Coagulation Disorders, Inherited|Thrombophilia	20	20p12-cen	THBD	22974269	22978301		Said, J. M.  et al. 2006	17278618				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	Australian;European;Asian	Australia	CDC GDP info	7056	Hs.2030			Hum Biol    2006    78(4)    403-12	Ethnic differences in the prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian prenatal population		188040		CDC	2006												
153496	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	8	8p21.3	SLC18A1	20046651	20084997		Lohoff, F. W.  et al. 2006	16936705				Solute carrier family 18 (vesicular monoamine), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC006317	European	Europe	CDC GDP info	6570	Hs.158322			Neuropsychopharmacology    2006	Variations in the Vesicular Monoamine Transporter 1 Gene (VMAT1/SLC18A1) are Associated with Bipolar I Disorder		193002		CDC	2006	suggest that variations in the VMAT1 gene may confer susceptibility to BPD in patients of European descent.											
153679	P		CANCER	CAN	Neoplasms	17	17q11.1-q12	SLC6A4	25549031	25586831		Yoshimura, K.  et al. 2003	14634838				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		182138		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
142708		major depressive disorder	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Depressive Disorder, Major	15	15q14	CHRNA7	30110017	30248527		Lai IC et al. 2001	11532536				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3		Taiwan	KGB	1139	Hs.511772			Journal of affective disorders. 2001 Sep;66(1):79-82	Association study of nicotinic-receptor variants and major depressive disorder.		118511	8081	1	2001	 The -2 bp allele of partially duplicated alpha7 nAChR may have an influence on the risk for development of major depressive disorder. The levels of significance achieved are modest and the findings must be replicated in other studies.											
142709	Y	Progressive AV-block and anomalous venous return	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Block|Disease Progression	5	5q34	NKX2-5	172591743	172594868		Gutierrez-Roelens I et al. 2002	12112663					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004387.2			KGB	1482	Hs.54473			Human mutation. 2002 Jul;20(1):75-6	Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.		600584	8082	1	2002	We also screened the CSX/NKX2-5 gene in sporadic and familial cases of other cardiopathies. As additional mutations were not found, substitutions in CSX/NKX2-5 gene seem to be a rare cause of cardiopathies without conduction defect. 											
142711	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic			NS5A				Hu Y et al. 2002	12196819								KGB					Zhonghua shi yan he lin chuang bing du xue za zhi. 2002 Jun;16(2):114-8	Association between NS5A gene sequence and response to interferon therapy in chronic hepatitis C patients in Shanghai			8084	1	2002	 Low HCV RNA levels in serum are associated with favorable outcome of IFNa therapy. ISDR sequence alone could not predict outcome of IFN treatment. Combination of determination of HCV RNA levels in serum with sequence analysis of PKR-binding domain may be helpful in predicting the efficacy of IFN therapy.											
142713		Non-syndromic X-linked mental retardation	OTHER	OTH	Mental Retardation|Syndrome	X	Xp11.21	FGD1	54488611	54539324		Lebel RR et al. 2002	11940089				FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004463.2			KGB	2245	Hs.631767			Clinical genetics. 2002 Feb;61(2):139-45	Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.		305400	8086	1	2002												
142714	N	alcoholism	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic			P450IIE1			n	Carr LG et al. 1995	7771648						caucasian		KGB					Alcoholism, clinical and experimental research. 1995 Feb;19(1):182-4	Polymorphism at the P450IIE1 locus is not associated with alcoholic liver disease in Caucasian men.			8088	1	1995												
142715	N	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431	n	Nowak-Gottl U et al. 2001	11168509			promoter		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Germany	KGB	5054	Hs.414795			European journal of haematology. 2001 Jan;66(1):57-62	The plasminogen activator inhibitor (PAI)-1 promoter 4G/4G genotype is not associated with ischemic stroke in a population of German children. Childhood Stroke Study Group.		173360	8089	1	2001	 Data presented here suggest that the 4G/4G genotype is not a major risk factor in the aetiology of childhood ischemic stroke.											
147348	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	14	14q	ESR2	63763503	63875021		Peter, I.  et al. 2005	16269961				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Hypertens    2005    23(12)    2193-200	Variation in estrogen-related genes and cross-sectional and longitudinal blood pressure in the Framingham Heart Study		601663		CDC	2005	Although the underlying relations between genes involved in estrogen action and hypertension remain to be completely understood, our findings provide suggestive evidence of gender-specific contributions of estrogen-related genes to blood pressure variation. As no correction for multiple testing was performed in the analyses, we view these results as suggestive and not definitive. Further studies are warranted to confirm these results using a comprehensive set of polymorphisms in order to shed more light on the involvement of estrogen in blood pressure regulation.											
148174	N	colorectal cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Chen, K.  et al. 2005	16471212				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		138350		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
148560	P		NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Leffell, M. S.  et al. 2007	17460569				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Transplantation    2007    83(7)    964-972	Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility		142800		CDC	2007	The noted improvements in HLA definition and the overall lack of significant deviation from HWE indicate the accuracy of these HLA frequencies.											
146731		material deprivation social deprivation	PSYCH	PSY	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Laberge, L.  et al. 2007	17204048				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDP info	1760	Hs.631596			Clin Genet    2007    71(1)    59-66	The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy		605377		CDC	2007												
147011	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sriuranpong, V.  et al. 2006	16243431				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Thai;Asian		CDC GDP info	1956	Hs.488293			Cancer Lett    2006    239(2)    292-7	High frequency of mutation of epidermal growth factor receptor in lung adenocarcinoma in Thailand		131550		CDC	2006	we report a strikingly high prevalence of mutation of EGFR in Thai lung adenocarcinoma, which may explain the high response rate to the treatment with TKI among Asian populations.											
147174	N	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Hirata, H.  et al. 2006	16510122				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1		Japan	CDC GDP info	2067	Hs.435981			Biochem Biophys Res Commun    2006	Polymorphisms of DNA repair genes are associated with renal cell carcinoma		126380		CDC	2006												
142731	Y	clonal T-cell large granular lymphocyte disease	OTHER	OTH	Leukemia, T-Cell|Anemia, Aplastic|Hemoglobinuria, Paroxysmal|	X	Xp22.1	PIGA	15247498	15263581		Karadimitris A et al. 2001	11843843	15109772			phosphatidylinositol glycan anchor biosynthesis, class A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_002641.2			KGB	5277	Hs.137154			British journal of haematology. 2001 Dec;115(4):10	Association of clonal T-cell large granular lymphocyte disease and paroxysmal nocturnal haemoglobinuria (PNH): further evidence for a pathogenetic link between T cells aplastic anaemia and PNH.		311770	8111	1	2001	We conclude that in patients with PNH cytogenetically abnormal clones are not necessarily malignant and may not be predictive of evolution to leukaemia.											
142734		complement Deficiency	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital			RCCX				Blanchong CA et al. 2000	10859342						caucasian		KGB					The Journal of experimental medicine. 2000 Jun;191(12):2183-96	Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.			8114	1	2000												
142736	Y	stroke	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Wei X et al. 2000	10932009				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		KGB	183	Hs.19383			Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000.	Association between hypertensive cerebrovascular stroke and renin-angiotensin system gene polymorphism from Chinese cohort in Shanghai		106150	8117	1	2000	The I/D polymorphism of ACE gene may be one of the risk factors and susceptible genetic markers for ischemic stroke with essential hypertension in Chinese.											
142739		gastric cancer	CANCER	CAN	Stomach Neoplasms	3	3p22	TGFBR2	30622997	30710637		Shinmura K et al. 1998	9498272					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			KGB	7048	Hs.82028			Carcinogenesis. 1998 Feb;19(2):247-51	RER phenotype and its associated mutations in familial gastric cancer.		190182	8120	1	1998	 These results indicate that the acquisition of the RER phenotype equally influences the gastric carcinogenesis of both sporadic and familial cases, and that the majority of FGC is pathogenetically distinct from HNPCC.											
142741		obesity in children and adolescents	METABOLIC	MET	Obesity			SCL2A4				Friedel S et al. 2002	12079888								KGB					Annals of the New York Academy of Sciences. 2002 Jun;967:554-7	Glucose transporter 4 gene: association studies pertaining to alleles of two polymorphisms in extremely obese children and adolescents and in normal and underweight controls.			8123	1	2002												
142742	Y	immunoglobulin A nephropathy	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease			selectin				Takei T et al. 2002	11828340							Japan	KGB					American journal of human genetics. 2002 Mar;70(3):781-6	Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.			8124	1	2002												
152772		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Hamilton, G.  et al. 2007	17440948				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Am J Med Genet B Neuropsychiatr Genet    2007	Candidate gene association study of insulin signaling genes and Alzheimer's disease		601487		CDC	2007												
153255	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Chen, L. Y.  et al. 2007	17185997				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Clin Pharmacol Ther    2007    81(1)    35-41	A Common Polymorphism in SCN5A is Associated with Lone Atrial Fibrillation		600163		CDC	2007												
153432		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Thomas, N. J.  et al. 2007	17524024				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDP info	6435	Hs.523084			Acta Paediatr    2007	Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome		178630		CDC	2007	These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS.											
150991	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Dinu, V.  et al. 2007	17266113				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Genet Epidemiol    2007	Evidence for association between multiple complement pathway genes and AMD		154545		CDC	2007												
142749	Y	alpha 1-antitrypsin deficiency	OTHER	OTH				serpin				Byth BC et al. 1994	7912884								KGB					American journal of human genetics. 1994 Jul;55(1):126-33	Physical and genetic mapping of the serpin gene cluster at 14q32.1: allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency.			8134	1	1994												
152181	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	5	5q31	NR3C1	142637688	142795270		Damaraju, S.  et al. 2006	16638864				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		138040		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
152372		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Psychotic Disorders	12	12q22-q24.2	PAH	101756233	101835511			16402341				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1			CDC GDP info	5053	Hs.643451			Am J Med Genet B Neuropsychiatr Genet    2006	Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia		261600		CDC	2006												
150551			NORMALVARIATION	NV		19	19q13.4	KIR2DS5	240800	255821		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Indian;Asian		CDC GDP info	3810	Hs.375019			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604956		CDC	2007												
150570		polyangiitis	CARDIOVASCULAR	CARD	Vasculitis|Genetic Predisposition to Disease			KIR3DS1				Miyashita, R.  et al. 2006	16508981				killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=L76661			CDC GDP info	3813	Hs.683173			Arthritis Rheum    2006    54(3)    992-7	Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis		604957		CDC	2006	The decreased activation potential of NK and/or T cells associated with KIR/HLA genotypes may predispose to MPA, possibly through insufficient resistance against infections.											
143302	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Coronary Disease	7	7q36	NOS3	150319079	150342609		Lee et al. Pharmacogenet Genomics. 2006;16:891-99	17108813	E298D and T-786C			nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			Craig R. Lee	4846	Hs.647092	cigarette smoking		Pharmacogenet Genomics. 2006 Dec;16(12):891-899.	NOS3 polymorphisms, cigarette smoking, and cardiovascular disease risk: The Atherosclerosis Risk in Communities study.		163729				An interaction between the E298D and T-786C polymorphisms in NOS3, cigarette smoking, and risk of incident coronary heart disease and ischemic stroke events appears to exist, suggesting a potential complex interplay between genetic and environmental factors and cardiovascular disease risk.	1085 incident coronary heart disease cases, all 300 incident ischemic stroke cases, and 1065 reference individuals	cigarette smoking									
149776			NORMALVARIATION	NV		2	2q14	IL1A	113247962	113259442		Hamajima, N.  et al. 2002	12164325				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147760		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150022			CANCER	CAN	Neoplasms|Inflammation	5	5q31.1	IL4	132037271	132046267		Huang, H. Y.  et al. 2007	17355643				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	African American;Caucasian		CDC GDP info	3565	Hs.73917			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147780		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
142766	Y	cleft lip	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Sassani R et al. 1993	8096116				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			KGB	7039	Hs.170009			American journal of medical genetics. 1993 Mar;45(	Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip.		190170	8155	1	1993	This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348-353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans.											
150526		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous	19	19q13.4	KIR2DS1	257787	271802		Wang, S.  et al. 2007	17617375				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512			CDC GDP info	3806	Hs.512574			Biochem Biophys Res Commun    2007	Increased activating killer immunoglobulin-like receptor genes and decreased specific HLA-C alleles in couples with recurrent spontaneous abortion		604952		CDC	2007												
150533			NORMALVARIATION	NV		19	19q13.4	KIR2DS2	274137	288432		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1	Indian;Asian		CDC GDP info	3807	Hs.632752			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604953		CDC	2007												
150541	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS4	59989604	60070482		Yan, L. X.  et al. 2007	17257315				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDP info	3809	Hs.258612			Tissue Antigens    2007    69(2)    133-8	Diversity of the killer cell immunoglobulin-like receptor gene KIR2DS4 in the Chinese population		604955		CDC	2007												
150489	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL2	59927795	60001550			16403292				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439	Caucasian		CDC GDP info	3803	Hs.534327			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604937		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150499		hepatitis C	INFECTION	INF		19	19q13.4	KIR2DL3	59927795	60001550		Montes-Cano, M. A.  et al. 2005	16571411				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDP info	3804	Hs.512573			Hum Immunol    2005    66(11)    1106-9	HLA-C and KIR Genes in Hepatitis C Virus Infection		604938		CDC	2005												
150504			NORMALVARIATION	NV		19	19q13.4	KIR2DL3	59927795	60001550		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730	Indian;Asian		CDC GDP info	3804	Hs.512573			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604938		CDC	2007												
150434			CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Koo, S. H.  et al. 2006	16487223				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Chinese;Indian;Singapore;Asian	Malaysia|Singapore|India|China	CDC GDP info	3757	Hs.438823			Br J Clin Pharmacol    2006    61(3)    301-8	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore		152427		CDC	2006	There exist multiple genetic polymorphisms of the LQTS-associated genes in the three distinct Asian populations. Though the functional significance of many of these SNPs is unknown, this interindividual and interethnic genetic variability may underlie the different susceptibilities of individuals to developing LQTS.											
150467			CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Tester, D. J.  et al. 2006	16818214				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			Heart Rhythm    2006    3(7)    815-21	Allelic dropout in long QT syndrome genetic testing		607542		CDC	2006	Allelic dropout secondary to intronic SNP-primer mismatch prevented the discovery of LQTS-causing mutations in four cases. Considering that many LQTS genetic testing research laboratories have used these primers, patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupt											
142782	Y	anorexia nervosa	PSYCH	PSY				UCP2/UCP3				Campbell DA et al. 1999	10089012								KGB					Molecular psychiatry. 1999 Jan;4(1):68-70	Association between a marker in the UCP-2/UCP-3 gene cluster and genetic susceptibility to anorexia nervosa.			8179	1	1999												
142784	Y	asthma	IMMUNE	IMM	Asthma	M		MT-CO2				Szczeklik, W.  et al. 2004	15316498	G-765C							CDC GDPinfo					The Journal of allergy and clinical immunology. 2004 Aug;114(2):248-53	Functional effects and gender association of COX-2 gene polymorphism G-765C in bronchial asthma.		516040	12528	2	2004	 In asthma, the COX-2 -765C homozygosity is associated with female sex. The CC homozygosity has functional effects resulting in increased capacity of monocytes to produce prostaglandins.	Case:112/198 patients with aspirin-induced asthma (n=112) and asthmatic patients who tolerated aspirin (n=198);Control:547 subjects from a random population sample from city of Krakow										
142785		Parkinson's disease	NEUROLOGICAL	NEUR		M		MT-TR				Rady, P. L.  et al. 2002	11807892								CDC GDPinfo					American journal of medical genetics. 2002 Jan;107(2):162-8	Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.		590005	12538	2	2002	Compound heterozygosity for multiple polymorphic alleles may play a role in birth defects and vascular diseases.	Cohort 										
142786		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND1				van der Walt, J. M.  et al. 2003	12618962							United States|Europe|Great Britain	CDC GDPinfo					American journal of human genetics. 2003 Apr;72(4):804-11	Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.		516000	12551	2	2003	Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression.	Control:340 unaffected white controls;Case:609 white patients with Parkinson's disease										
142787		triglycerides	METABOLIC	MET		M		MT-ND1				Kokaze, A.  et al. 2003	14580860	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Experimental gerontology. 2003 Oct;38(10):1071-6	Longevity-associated mitochondrial DNA 5178 A/C polymorphism modulates effects of daily drinking and cigarette consumption on serum triglyceride levels in middle-aged Japanese men.		516000	12552	2	2003	Longevity-associated mitochondrial DNA 5178 A/C polymorphism thus influences the effects of daily drinking and cigarette consumption on TG levels in middle-aged Japanese men.	Cohort 321 healthy middle-aged Japanese men 	alcohol smoking (tobacco)									
142788	Y	Parkinson's disease; dementia in other conditions	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia	M		MT-ND1				Autere, J.  et al. 2004	15108120								CDC GDPinfo					Human genetics. 2004 Jun;115(1):29-35	Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.		516000	12553	2	2004	Our results suggest that a relative excess of nonsynonymous mutations in MTND genes in supercluster JTWIX is associated with an increased risk of PD and the disease progression to dementia.	Cohort 238 Patients with Parkinson's disease 										
142789		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	M		MT-ATP6				Guo, L. J.  et al. 2005	16060290							Japan	CDC GDPinfo					Mitochondrion. 2005 Feb;5(1):15-33	Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity.		516060	12554	2	2005												
142790	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-ND2				Wang, D.  et al. 2001	11573146	mitochondrial DNA 5178 A/C					Japanese	Japan	CDC GDPinfo					Experimental and clinical endocrinology & diabetes. 2001 ;109(7):361-4	Association of the mitochondrial DNA 5178A/C polymorphism with maternal inheritance and onset of type 2 diabetes in Japanese patients.		516001	12555	2	2001	The mt5178A/C polymorphism may be associated with maternal inheritance of type 2 diabetes and may influence the age at onset through deterioration of mitochondrial function.	Control:254 control subjects without diabetes;Case:270 patients with type 2 diabetes (181 men and 89:women):Japan										
142791	Y	lipids	METABOLIC	MET		M		MT-ND2				Kokaze, A.  et al. 2001	11735027	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Human genetics. 2001 Nov;109(5):521-5	Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.		516001	12556	2	2001	Mt5178 A seems to have an antiatherogenic effect.	Cohort 461 healthy Japanese individuals 										
142792		cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebrovascular Disorders	M		MT-ND2				Ohkubo, R.  et al. 2002	12039661						Japanese	Japan	CDC GDPinfo					Journal of the neurological sciences. 2002 Jun;198(2-Jan):31-5	Cerebrovascular disorders and genetic polymorphisms: mitochondrial DNA5178C ispredominant in cerebrovascular disorders.		516001	12557	2	2002	Although the number of CVD patients in the present study was too small to make a final conclusion, mt5178C might be one of the genetic factors to be considered in Japanese patients with CVD.	Case:127 Japanese cerebrovascular disorder patients;Control:294 age-matched normal controls										
142793		globulin	OTHER	OTH		M		MT-ND2				Kokaze, A.  et al. 2002	12086702	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Experimental gerontology. 2002 Jul;37(7):931-6	Association of the longevity-associated mitochondrial DNA 5178 A/C polymorphism with serum protein fraction levels in healthy Japanese women.		516001	12558	2	2002	These results provide the first evidence that the mt5178 A/C polymorphism may influence the serum protein fraction levels of the healthy Japanese women.	Cohort 461 healthy japanese individuals 										
142794	Y	protein fraction levels	AGING	AGE		M		MT-ND2				Kokaze, A.  et al. 2003	12782420	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Mechanisms of ageing and development. 2003 Jun;124(6):765-70	Longevity-associated mitochondrial DNA 5178 A/C polymorphism influences effects of cigarette smoking on serum protein fraction levels in Japanese men.		516001	12559	2	2003	These results suggest that longevity-associated mt5178 A/C polymorphism may influence the effects of cigarette smoking on serum protein fraction levels in healthy Japanese men.	Cohort 321 healthy Japanese men 	smoking (tobacco)									
142795		bipolar disorder	PSYCH	PSY	Bipolar Disorder	M		MT-ND2				Washizuka, S.  et al. 2003	14604458								CDC GDPinfo					The international journal of neuropsychopharmacology. 2003 Dec;6(4):421-4	Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder.		516001	12560	2	2003	Our findings suggest that the mtDNA 10398 polymorphism might be related to maintenance lithium treatment response.	Cohort 54 biplar patients 	lithium									
142796	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		M		MT-ND2				Kokaze, A.  et al. 2004	14688809	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Journal of human hypertension. 2004 Jan;18(1):41-5	Longevity-associated mitochondrial DNA 5178 A/C polymorphism and blood pressure in the Japanese population.		516001	12561	2	2004	These results suggest that mt5178 A/C (=ND2-237 Met/Leu) polymorphism may influence both diastolic blood pressure in Japanese women and the blood-pressure-increasing effect of drinking in Japanese men.	Cohort 412 healthy Japanese individuals 										
142797	Y	intraocular pressure	VISION	VIS		M		MT-ND2				Kokaze, A.  et al. 2004	15068427	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Clinical & experimental ophthalmology. 2004 Apr;32(2):131-6	Longevity-associated mitochondrial DNA 5178 A/C polymorphism is associated with intraocular pressure in Japanese men		516001	12562	2	2004	 Longevity-associated mitochondrial DNA 5178 A/C polymorphism may be associated with IOP in Japanese men.	Cohort 386 Japanese men of 449 male volunteers who had not undergone any medical treatment for hypertension, ocular hypertension or glaucoma Aug 1999 - Aug 2000 	alcohol smoking (tobacco)									
142798		personality traits	PSYCH	PSY		M		MT-ND2				Kato, C.  et al. 2004	15211636								CDC GDPinfo					American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):76-9	Mitochondrial DNA polymorphisms and extraversion.		516001	12563	2	2004	Although further studies are recommended for the confirmation, the result may suggest a role of the mitochondrial DNA polymorphism in the personality trait.	Cohort 238 Japanese volunteers 										
142799	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	M		MT-ND2				Takagi, K.  et al. 2004	15262184	mitochondrial DNA 5178 A/C					Japanese	Japan	CDC GDPinfo					Atherosclerosis. 2004 Aug;175(2):281-6	Association of a 5178C-->A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals.		516001	12564	2	2004	These results suggest that the 5178A genotype of mitochondrial ND2 gene polymorphism is protective against MI; and this effect would explain, at least in part, its contribution to longevity.	Control:controls;Case Japanese myocardial infarction patients										
142800		hematology indices	HEMATOLOGICAL	HEM		M		MT-ND2				Kokaze, A.  et al. 2005	15680495						Japanese		CDC GDPinfo					Archives of gerontology and geriatrics. 2005 Mar-Apr;40(2):113-22	Interaction between longevity-associated mitochondrial DNA 5178 C/A polymorphism and cigarette smoking on hematological parameters in Japanese men.		516001	12565	2	2005	These data suggest that mt5178 C/A polymorphism may influence the effects of cigarette smoking on hematological parameters in healthy BMI	Cohort 321 healthy Japanese men 	smoking (tobacco)									
142801		calcium; chloride; hemoglobin levels; sodium	AGING	AGE		M		MT-ND2				Kokaze, A.  et al. 2005	15888325						Japanese		CDC GDPinfo					Mechanisms of ageing and development. 2005 Jun-Jul;126(7-Jun):705-9	Longevity-associated NADH dehydrogenase subunit-2 polymorphism and serum electrolyte levels in middle-aged obese Japanese men.		516001	12566	2	2005	Longevity-associated NADH dehydrogenase subunit-2 polymorphism may influence serum electrolyte levels in middle-aged obese Japanese men.	Cohort 321 healthy middle-aged Japanese men 										
142803	Y	atherosclerosis, coronary; lipids; longevity; apoB levels	CARDIOVASCULAR	CARD	Coronary Disease	M		MT-ND2				Lal, S.  et al. 2005	16266403	mitochondrial DNA 5178 A/C						Malaysia|India	CDC GDPinfo					Annals of human genetics. 2005 Nov;69(Pt 6):639-44	The association of mitochondrial DNA 5178 C > a polymorphism with plasma lipid levels among three ethnic groups.		516001	12568	2	2005												
142804	Y	glucose tolerance	METABOLIC	MET		M		MT-ND2				Kokaze, A.  et al. 2005	16271520	mitochondrial DNA 5178 A/C					Japanese		CDC GDPinfo					Mitochondrion. 2005 Dec;5(6):418-25	Longevity-associated mitochondrial DNA 5178 C/A polymorphism is associated with fasting plasma glucose levels and glucose tolerance in Japanese men.		516001	12569	2	2005												
142805		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	M		MT-ATP8				Ishikawa, Y.  et al. 2001	11607774								CDC GDPinfo					Bone marrow transplantation. 2001 Sep;28(6):603-7	Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation		516070	12570	2	2001	These results suggest that polymorphisms which generate peptides, with and without substitutions, that bind the same HLA molecule hardly influence GVHD because the difference between the HLA-peptide complexes is minute.	Cohort 340 recipients transplanted with HLA-A, -B, -DRB1 allele-matched bone marrow from unrelated donors 										
142806		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	M		MT-ND3				Canter, J. A.  et al. 2005	16140977	Mitochondrial DNA G10398A					African American		CDC GDPinfo					Cancer research. 2005 Sep;65(17):8028-33	Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women.		516002	12571	2	2005												
142807	N	migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders	M		MT-ND4				Takeshima, T.  et al. 2001	11843871	mitochondrial DNA A to G polymorphism at 11084					Japanese	Japan	CDC GDPinfo					Cephalalgia. 2001 Dec;21(10):987-9	Leukocyte mitochondrial DNA A to G polymorphism at 11084 is not a risk factor for Japanese migraineurs.		516003	12572	2	2001	The mitochondrial DNA 11084 A to G transition was more common in Japanese subjects than reported in Caucasians; however, this polymorphism is not a genetic risk factor for migraine in Japanese patients.	Case:166 Japanese migraineurs (43 patients suffering from migraine with aura (MWA) and 123 from migraine without aura (MOA));Control:483 Japanese controls										
142808		encephalomyopathy, mitochondrial	NEUROLOGICAL	NEUR	Mitochondrial Encephalomyopathies	M		MT-TL1				Crimi, M.  et al. 2003	14571278	A12308G							CDC GDPinfo					European journal of human genetics. 2003 Nov;11(11):896-8	Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.		590050	12604	2	2003	MtDNA haplotype might modulate the clinical expression of mitochondrial encephalomyopathies due to mtDNA macrodeletions.	Cohort a group of patients with mitochondial encphalomyopathies 										
142809		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression|Nerve Degeneration	M		MT-CO1				Brown, A. M.  et al. 2001	11345519								CDC GDPinfo					Journal of molecular neuroscience. 2001 Feb;16(1):41-8	Correlation of the clinical severity of Alzheimer's disease with an aberration in mitochondrial DNA (mtDNA).		516030	18376	2	2001	These results agree with the suggestion that the well-documented impairment in brain-energy metabolism in AD may be a direct cause of the clinical disability.	Control:26 non-Alzheimer's disease controls;Case:86 Caucasian Alzheimers disease patients from a Jewish nursing home										
142810		myelodysplastic syndrome	OTHER	OTH	Myelodysplastic Syndromes	M		MT-CO1				Reddy, P. L.  et al. 2002	11849212								CDC GDPinfo					British journal of haematology. 2002 Mar;116(3):564-75	Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes.		516030	18377	2	2002	These results suggest a role for mt-DNA mutations in the excessive apoptosis and resulting cytopenias of MDS patients.	Control:10 age-matched controls;Case:20 myelodysplastic syndrome (MDS) patients										
142811		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Diabetes Mellitus|Obesity	M		MT-CYB				Tanaka, M.  et al. 2002	12391595								CDC GDPinfo					Journal of neuroscience research. 2002 Nov;70(3):347-55	Golden mean to longevity: rareness of mitochondrialcytochrome b variants in centenarians but not in patients with Parkinson's disease.		516020	18378	2	2002	A multiplex detection system for various deleterious variations in combination with genetic tests for longevity-associated genotypes will be necessary to predict longevity or age-related diseases.	Case Parkinson's disease patients;Control:64 Japanese centenarians										
142812	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	M		MT-ND1				Ross, O. A.  et al. 2003	12670626						Irish	Ireland	CDC GDPinfo					Experimental gerontology. 2003 Apr;38(4):397-405	mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish.		516000	18389	2	2003	These findings lead one to postulate that the mt4216C variant, in linkage with the mtDNA TJ cluster, may influence mitochondrial dysfunction, resulting in an increased risk of PD.	Control healthy aged controls;Case:90 Parkinson's disease sufferers										
142813		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-ND1				Yu, P.  et al. 2004	15265369								CDC GDPinfo					Chinese medical journal. 2004 Jul;117(7):985-9	Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes.		516000	18390	2	2004	 mtDNA ND1 gene mutations at nt3316 (G-->A), nt3394 (T-->C) and 3426 (A-->G) might contribute to the pathogenesis of DM with other genetic factors and environment factors.	Control:430 non-diabetic subjects;Case:478 type 2 diabetics										
142814	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	M		MT-ND1				Munakata, K.  et al. 2004	15533721								CDC GDPinfo					Genomics. 2004 Dec;84(6):1041-50	Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder.		516000	18391	2	2004	The result of modest functional impairment caused by 3644T-->C suggests that this mutation could increase the risk for bipolar disorder.	Case:199 patients with bipolar disorder;Control:258:controls										
142815		diabetes, type 2	METABOLIC	MET		M		MT-ND1				Yu, D.  et al. 2005	15696471								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):14-7	[Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus]		516000	18392	2	2005	 The above findings suggest that mtDNA mutation may be implicated in the pathogenesis of the examined diabetes.	Control:207 non-related and non-diabetic subjects;Case:348 non-related type 2 diabetic patients randomly recruited, whose age at onset of diabetes was less than 45 years										
142816		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	M		MT-ND1				Grazina, M.  et al. 2005	15860916						Portuguese	Portugal	CDC GDPinfo					European neurology. 2005 ;53(3):121-4	Mitochondrial DNA variants in a portuguese population of patients with Alzheimer's disease.		516000	18393	2	2005												
142817	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Hypercholesterolemia|Diabetes Complications|Genetic Predisposition to Disease	M		MT-ND2				Mukae, S.  et al. 2003	12520145								CDC GDPinfo					Circulation journal. 2003 Jan;67(1):16-20	Mitochondrial 5178A/C Genotype is Associated With Acute Myocardial Infarction		516001	18394	2	2003	There were differences in allelic frequencies among the essential hypertension group, diabetes mellitus group and control group, but a higher frequency of the C allele was seen in the AMI group compared with the essential hypertension and diabetes mellitus groups. This particular polymorphism was found to be associated with development of AMI, especially in younger patients and constitutes a new risk factor for AMI.	Control:150 subjects matched for age and sex;Case:150/150/100 150 patients with AMI, 150 with essential hypertension, 100 with diabetes mellitus										
142818		cardiovascular disease; atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	M		MT-ND2				Botto, N.  et al. 2005	15680405								CDC GDPinfo					Mutation research. 2005 Feb;570(1):81-8	Detection of mtDNA with 4977bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease		516001	18395	2	2005	The obtained results may suggest that the increase of oxidative stress in cardiovascular disease may be responsible for the accumulation of mtDNA damage in coronary artery disease patients.	Control:22 healthy age-matched subjects;Case:65/23 cardiovascular patients (n=65) and atherosclerotic plaques of human coronaries with severe:atherosclerosis (n=23)										
142819	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	M		MT-ND3				Ghezzi, D.  et al. 2005	15827561						Italian	Italy	CDC GDPinfo					European journal of human genetics. 2005 Jun;13(6):748-52	Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.		516002	18396	2	2005												
142820	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	M		MT-ND5				Ro, L. S.  et al. 2003	14639589								CDC GDPinfo					Muscle & nerve. 2003 Dec;28(6):737-43	Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study.		516005	18397	2	2003	This study suggested that 4977-bp deleted mtDNA is significantly associated with the occurrence of sporadic ALS.	Case:36 patients with amyotrophic lateral sclerosis;Control:69 age-matched controls										
142821		Leigh syndrome	NEUROLOGICAL	NEUR	Leigh Disease|Wolff-Parkinson-White Syndrome	M		MT-ND5				Sudo, A.  et al. 2004	14730434							Japan	CDC GDPinfo					Journal of human genetics. 2004 ;49(2):92-6	Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan		516005	18398	2	2004	This study suggests that G13513A mutation is a frequent cause of LS and that patients with this mutation may have a characteristic clinical course.	Cohort 84 patients with Leigh syndrome 										
142822	N	neuropathy, non-arteritic ischaemic optic	NEUROLOGICAL	NEUR	Multiple Sclerosis|Optic Atrophy, Hereditary, Leber	M		MT-ND1				Houshmand, M.  et al. 2004	14671420						Iranian	Iran	CDC GDPinfo					European neurology. 2004 ;51(2):68-71	Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran.		516000	18399	2	2004	Our results suggest that there is no association between Iranian patients with MS and mtDNA point mutations at np 11,778, 3,460, and 14,484.	Control:25 non-related Iranian clinically definite MS patients (16 females and 9 males) without optic nerve:involvement;Case:31 non-related Iranian clinically definite MS patients (23 females and 8 males) with optic nerve:involvement										
142823	Y	longevity	AGING	AGE		M		MT-ND6				Dato, S.  et al. 2004	15470367								CDC GDPinfo					European journal of human genetics. 2004 Dec;12(12):1080-2	Association of the mitochondrial DNA haplogroup J with longevity is population specific		516006	18400	2	2004	This finding shows that, as for other genetic factors, the association of mtDNA inherited variability with longevity is population specific.	Cohort 883 subjects (371 males and 521 females; age range 18-108 years) southern Italy 										
142825		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-RNR1				Yu, Y.  et al. 2001	11592049								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):388-90	[Mutations of mitochondrial 12S rRNA gene in type 2 diabetes]		561000	18405	2	2001	 The G --> A mutation at points 1438 and 1442 is likely to be associated with the development of type 2 diabetes; the occurrence of the C -->T mutation at point 1310 is probably rare in the blood cells, and the development of type 2 diabetes may be related to heterogeneity in mitochondrial genetic changes.	Control:70 normal controls;Case:86 paitents with type 2 diabetes										
142826		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss, Sensorineural|Genetic Predisposition to Disease	M		MT-RNR1				Kupka, S.  et al. 2002	11857751						Polish	Hungary|Poland|Germany	CDC GDPinfo					Human mutation. 2002 Mar;19(3):308-9	Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients.		561000	18406	2	2002	Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.	Cohort normal population sample from Hungary, Poland and Germany ;Case:125 Polish patients with nonsyndromic servere to profound hearing impairment of unknown origing										
142827		aminoglycoside ototoxicity	OTHER	OTH	Deafness|Genetic Predisposition to Disease	M		MT-RNR1				Tang, H. Y.  et al. 2002	12394346							United States	CDC GDPinfo					Genetics in medicine. 2002 Sep-Oct;4(5):336-45	Genetic susceptibility to aminoglycoside ototoxicity: How many are at risk?		561000	18407	2	2002	 Genetic susceptibility to aminoglycoside ototoxicity may be more common than previously suspected. Further study of the 961delT + C(n) mutation is recommended to confirm its role in aminoglycoside ototoxicity and assess penetrance and variability with and without exposure to aminoglycoside antibiotics.	Cohort 1,173 random dried blood spots Texas 										
142829		hearing loss, sensorineural	OTHER	OTH	Hearing Loss	M		MT-RNR1				Gallo-Teran, J.  et al. 2003	12882732								CDC GDPinfo					Med Clin (Barc). 2003 Jul;121(6):216-8	[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA]		561000	18409	2	2003	 The A1555G mutation should be screened in individuals with maternal relatives with hearing loss before administering aminoglycosides.	Cohort 72 patients with nonsyndromic sensorineural hearing loss 	family history									
142830		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural|Diabetes Mellitus, Type 2	M		MT-RNR1				Malik, S. G.  et al. 2003	12955586							Indonesia	CDC GDPinfo					Journal of human genetics. 2003 ;48(9):480-3	Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.		561000	18410	2	2003	Our result confirms the importance of determining the prevalence of the mtDNA A1555G mutation in different populations, and the need for mutation detection before the administration of aminoglycoside antibiotics.	Cohort sensorineural deafness patients Indonesia 										
142831		hearing loss/deafness	OTHER	OTH	Hearing Loss	M		MT-RNR1				Noguchi, Y.  et al. 2004	14755216								CDC GDPinfo					The Laryngoscope. 2004 Feb;114(2):344-8	Audiovestibular findings in patients with mitochondrial A1555G mutation.		561000	18411	2	2004	 Screening for the A1555G mutation, even in patients with idiopathic bilateral SNHL, likely would be useful for preventing further development and/or acceleration of the deafness.	Cohort 138 unrelated Japanese deaf patients 										
142832		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease	M		MT-RNR1				Kupka, S.  et al. 2004	15309320							Germany	CDC GDPinfo					HNO. 2004 Nov;52(11):968-72	[Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment]		561000	18412	2	2004	 The A1555G mutation is infrequently involved as a genetic cause of sporadic, non-syndromic hearing impairment. Nevertheless, based on the variable clinical outcome of hearing impairment and the possibility of preventive steps, a genetic test in this patient subgroup is indicated.	Cohort 391 patients displaying sporadic, non-syndromic, mild to severe hearing impairment 										
142834	Y	hearing loss/deafness; hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease	M		MT-RNR1				Li, Z.  et al. 2005	15841390						Chinese	China	CDC GDPinfo					Human genetics. 2005 Jun;117(1):15-Sep	Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.		561000	18414	2	2005	These data strongly suggest that the mitochondrial 12S rRNA is a hot-spot for deafness-associated mutations in the Chinese population.	Cohort 128 Chinese pediatric subjects with sporadic aminoglycoside-induced and non-syndromic hearing loss 										
142835		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	M		MT-RNR1				Kobayashi, K.  et al. 2005	15917167								CDC GDPinfo					Auris, nasus, larynx. 2005 Jun;32(2):119-24	Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation.		561000	18415	2	2005	The present analysis did not agree with the concept that the 961delT mutation causes aminoglycoside-induced hearing loss.	Control:controls;Case:344/56 sensorineural hearing loss patients (n=344) and patients with aminoglycoside antibiotic injection:history (n=56)										
142837	N	Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	M		MT-TG				Garcia-Lozano, J. R.  et al. 2002	12138308						Spanish	Spain	CDC GDPinfo					European neurology. 2002 ;48(1):34-6	Mitochondrial DNA A4336G mutation in Alzheimer's and Parkinson's diseases.		590035	18426	2	2002	 Our results do not support the hypothesis that this mutation represents a risk factor for either AD or PD patients, at least in the case of this Spanish sample.	Case:160/106 patients with Alzheimer's disease (n=160) and Parkinson's disease (n=106);Control:78/144 age-matched (n=78) and randomly chosen healthy:subjects (n=144) controls										
142838		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-TG				Otaegui, D.  et al. 2004	15488317								CDC GDPinfo					Neuroscience letters. 2004 Nov;370(3-Feb):171-4	Mitochondrial polymporphisms in Parkinson's Disease.		590035	18427	2	2004	Our analysis confirm the association between A4336G and PD. Our results with A10398G polymorphism highlight the importance of performing the association studies in ethnically homogeneous populations.											
142839	Y	deafness	OTHER	OTH	Hearing Loss, Sensorineural|Diabetes Mellitus|Diabetes Complications	M		MT-TL1				Nagata, H.  et al. 2001	11587074								CDC GDPinfo					Journal of human genetics. 2001 ;46(10):595-9	Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics		590050	18429	2	2001	Association of DM, cardiomyopathy, a family history of possible maternal inheritance of SNHL, and an onset of SNHL between the teens and the forties are signs suggesting the mutation. These signs provide us with a reason for genetic testing for the mutation.	Case:230 patients with sensorineural hearing loss										
142840		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TL1				Ji, L.  et al. 2001	11733107						Chinese	China	CDC GDPinfo					Diabetes research and clinical practice. 2001 Dec;54 Suppl 2:S35-8	Prevalence and clinical characteristics of mitochondrial tRNAleu(UUR) nt 3243 A-->G and nt 3316 G-->A mutations in Chinese patients with type 2 diabetes.		590050	18430	2	2001	the frequency of the mutation was not significantly different in the patients and controls. Moreover, the clinical characteristics such as the age of the onset of diabetes, the BMI, and insulin levels were not significantly different between the diabetic patients with the mt 3316 G-A mutation and those without. This shows that the mt 3316 G-A mutation is a polymorphism unrelated to diabetes.	Control:181 controls with normal glucose tolerance;Case:716 patients with type 2 diabetes										
142842		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-ND1				Yang, T.  et al. 2002	12133550						Japanese		CDC GDPinfo					Chinese medical journal. 2002 May;115(5):753-8	Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes.		516000	18432	2	2002	 The results suggest that the 3200T-->C mutation is linked to the development of type 2 diabetes, but that the other observed mutations are neutral. In contrast to the Japanese studies, the 3316G-->A does not appear to be related to type 2 diabetes.	Control:241 normal subjects;Case:277 Chinese type 2 diabetic patients										
142843		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hearing Loss|Arrhythmias, Cardiac|Hypertrophy, Left Ventricular|Arrhythmias, Cardiac	M		MT-TL1				Majamaa-Voltti, K.  et al. 2002	12150714								CDC GDPinfo					BMC cardiovascular disorders [electronic resource]. 2002 Aug;2:12	Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G.		590050	18433	2	2002	 Structural and functional abnormalities of the heart were common in patients with 3243A>G. The risk of LVH was related to the clinical severity of the phenotype, and to a lesser degree to age, suggesting that patients presenting with any symptoms from the mutation should also be evaluated for cardiac abnormalities.	Cohort 39 patients 										
142844		heart rate	CARDIOVASCULAR	CARD	Diabetic Neuropathies	M		MT-TL1				Momiyama, Y.  et al. 2002	12453978								CDC GDPinfo					Diabetes care. 2002 Dec;25(12):2308-13	Cardiac autonomic nervous dysfunction in diabetic patients with a mitochondrial DNA mutation:assessment by heart rate variability.		590050	18434	2	2002	 Our results suggest that diabetic patients with the mitochondrial DNA mutation have more severely impaired cardiac autonomic nervous function with sympathovagal imbalance, as compared with ordinary diabetic patients.	Case:10/55 diabetic patients with (n=10) and without (n=55) the mitochondrial DNA mutation at base pair 3243;Control:45 nondiabetic controls										
142845		diabetes, type 2	METABOLIC	MET	Mitochondrial Encephalomyopathies|Deafness|Diabetic Neuropathies|Diabetic Retinopathy|Diabetic Nephropathies|Wolff-Parkinson-White Syndrome|Sick Sinus Syndrome|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	M		MT-TL1				Suzuki, S.  et al. 2003	12590018						Japanese	Japan	CDC GDPinfo					Diabetes research and clinical practice. 2003 Mar;59(3):207-17	Clinical features of diabetes mellitus with the mitochondrial DNA 3243 (A-G) mutation in Japanese:maternal inheritance and mitochondria-related complications.		590050	18435	2	2003		Cohort 113 Japanese type 2 diabetic patients 										
142847	Y	polyneuropathy	OTHER	OTH	Diabetic Neuropathies|Diabetes Mellitus, Type 2	M		MT-TL1				Suzuki, Y.  et al. 2003	12663619							Japan	CDC GDPinfo					Diabetes care. 2003 Apr;26(4):1315-6	Mitochondrial tRNA(Leu(UUR)) mutation at position 3243 and symptomatic polyneuropathy in type 2 diabetes.		590050	18437	2	2003	In conclusion, sensory neuropathy in diabetes is associated with the 3243 mtDNA mutation. This result of human study supports recent evidence of experiemntal studies. However, further studies are needed to reveal the association of sensory neuropathy with more varieties of mitochondrial DNA abnormalities than the 3243 mutation.	Cohort 271 Japanese patients with type 2 diabetes at Saiseikai Central Hospital Japan 										
142849		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	M		MT-TL1				Wang, Z.  et al. 1999	12840896								CDC GDPinfo					Journal of Tongji Medical University. 1999 ;19(3):209-11	Mitochondrial tRNA(leu)(UUR) gene mutation and the decreased activity of cytochrome c oxidase in preeclampsia.		590050	18439	2	1999	The results suggested that the decreased activity of cytochrome c oxidase might impair the energy production, leading to the mitochondria dysfunction and placenta dysfunction in preeclampsia patients. Mitochondria dysfunction may be involved in the pathogenesis of preeclampsia. The mutation of mitochondria DNA may not be the common contributor of preeclampsia in our series.	Case:57 patients with preeclampsia;Control:60 normotension pregnancy women										
142851		mitochondrial myopathy	MITOCHONDRIAL	MITO	Mitochondrial Myopathies|Muscular Dystrophies|Cytochrome-c Oxidase Deficiency	M		MT-TL1				Olsen, D. B.  et al. 2003	14648149								CDC GDPinfo					Journal of neurology. 2003 Nov;250(11):1328-34	Muscle structural changes in mitochondrial myopathy relate to genotype.		590050	18441	2	2003	These findings provide evidence that morphological changes in muscle of MM patients are common and may resemble those of muscular dystrophies, but that development of dystrophic-like changes in muscle relate to genotype.	Control muscular dystrophy patients and healthy subjects;Case:16 patients with mitochrondrial myopathy										
142854		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Complications	M		MT-TL1				Suzuki, S.   2004	15126296							Japan	CDC GDPinfo					Annals of the New York Academy of Sciences. 2004 Apr;1011:185-92	Diabetes mellitus with mitochondrial gene mutations in Japan.		590050	18444	2	2004	Thus, this study has revealed that (1) diabetes mellitus with the 3243 mutation is a subtype of diabetes mellitus with mitochondria-related complications and (2) insulin secretory ability is more severely impaired in the patients whose mothers were also diabetic.	Cohort 116 Japanese type 2 diabetic patients 										
142855		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	M		MT-TL1				Majamaa-Voltti, K.  et al. 2004	15181978								CDC GDPinfo					Annals of medicine. 2004 ;36(3):225-31	Cardiovascular autonomic regulation in patients with 3243A > G mitochondrial DNA mutation.		590050	18445	2	2004	Patients with the 3243A > G mutation in mtDNA have abnormalities in the spectral and fractal characteristics of HRV suggesting altered cardiac autonomic regulation. The abnormalities are not clearly associated with clinical manifestations related to 3243A > G suggesting that mitochondrial dysfunction may affect the autonomic regulatory systems more directly.	Control controls matched with respect to age, sex, the presence of hypertension and diabetes mellitus and the use of cardiac medication;Case:24 patients with 3243A > G mutation in mitochondrial:DNA										
142856		maternally inherited diabetes and deafness	OTHER	OTH	Deafness|Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Body Weight	M		MT-TL1				Guillausseau, P.  et al. 2004	15223991							France	CDC GDPinfo					Diabetes & metabolism. 2004 Apr;30(2):181-6	Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).		590050	18446	2	2004	 These results confirm the existence of two different phenotypes in MIDD, MIDD1 and MIDD2, which may be related to the severity of the mitochondrial disease. The role of other genetic and/or environmental factors in the variable phenotype of MIDD remains to be elucidated.	Control:139 control patients with type 1 (T1D) or type 2 (T2D) diabetes, matched according to initial presentation of diabetes, age at onset, sex, and duration of diabetes (24 T1D and 115 T2D, including 55 treated with insulin);Case:77 patients with diabetes and the mtDNA 3243 mutation										
142857		mitochondrial encephalomyopathy	MITOCHONDRIAL	MITO	MELAS Syndrome|MERRF Syndrome|Kearns-Sayer Syndrome|Leigh Disease|Mitochondrial Diseases	M		MT-TL1				Chae, J. H.  et al. 2004	15351082						Korean	Korea	CDC GDPinfo					Brain & development. 2004 Oct;26(7):459-62	Clinical features of A3243G mitochondrial tRNA mutation.		590050	18447	2	2004	This study revealed the frequent occurrence of A3243G mutation in Korean patients with mitochondrial disorders and their clinical features can be heterogeneous. It will be helpful to screen the presence of A3243G mutation for the genetic diagnosis of mitochondrial encephalomyopathy in Korea.	Cohort 85 Korean patients with mitochondrial encephalomyopathy 										
142858		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TL1				Martin-Kleiner, I.  et al. 2004	15660201							Croatia	CDC GDPinfo					Acta diabetologica. 2004 Dec;41(4):179-84	A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance		590050	18448	2	2004	The mutation was not detectable in oral mucosal DNA	Control:20/22 diabetic patients having diabetic fathers (n=20) and healthy, nondiabetic volunteers (n=20);Case:22 Croatian diabetic persons with diabetic mothers										
142859		encephalomyopathy	NEUROLOGICAL	NEUR	Mitochondrial Encephalomyopathies|MELAS Syndrome|Kearns-Sayer Syndrome|Muscle Hypotonia	M		MT-TL1				Zhang, Y.  et al. 2005	15782498								CDC GDPinfo					Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2005 Feb;27(1):77-80	[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]		590050	18449	2	2005	 Significant variations in clinical manifestation and brain images are the prominent features in patients with A3243G mutation. Mitochondrial diseases should be considered in patients with multiple organ involvement and elevated serum lactic acid mtDNA mutation examination is necessary for the diagnosis of mitochondrial diseases.	Cohort 25 mitochondrial encephalomyopathies patients 										
142860	Y	diabetes, type 2	METABOLIC	MET		M		MT-ND5				Tang, D.  et al. 2005	16331560								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):636-40	[Association of mitochondrial DNA variation with type 2 diabetes mellitus.]		516005	18450	2	2005	 The mutations of 3394 (T-->C) and 14693 (A-->G) may contribute to the genetic predisposition to type 2 diabetes; 16189 (T-->C) variant is associated with insulin resistance and risk factor of diabetes.											
142862	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TS2				Poulton, J.  et al. 2002	12045211								CDC GDPinfo					Human molecular genetics. 2002 Jun;11(13):1581-3	Type 2 diabetes is associated with a common mitochondrial variant: evidence from apopulation-based case-control study.		590085	18458	2	2002	We demonstrated a significant association between the 16189 variant and type 2 diabetes in a population-based case-control study in Cambridgeshire, UK (n=932, odds ratio=1.61 (1.0-2.7, P=0.048), which was greatly magnified in individuals with a family history of diabetes from the father's side (odds ratio=infinity; P<0.001).											
142863	Y	cardiomyopathy; MELAS syndrome	CARDIOVASCULAR	CARD	MELAS Syndrome|Cardiomyopathy, Hypertrophic	M		MT-TV				Menotti, F.  et al. 2004	15320572								CDC GDPinfo					Italian heart journal. 2004 Jun;5(6):460-5	A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.		590105	18459	2	2004	 Although it is rare for patients with MELAS to be referred to cardiological evaluation because of coexisting cardiomyopathy, cardiologists should be aware of this association as well as of the non cardiac signs that may address the diagnosis to mtDNA defect-related disease in families with a variable phenotype.	Cohort 100 healthy controls 										
142864		myelodysplastic syndrome	OTHER	OTH	Myelodysplastic Syndromes	M		MT-CO2				Reddy, P. L.  et al. 2002	11849212								CDC GDPinfo					British journal of haematology. 2002 Mar;116(3):564-75	Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes.		516040	22964	2	2002	These results suggest a role for mt-DNA mutations in the excessive apoptosis and resulting cytopenias of MDS patients.	Control:10 age-matched controls;Case:20 myelodysplastic syndrome (MDS) patients										
142865		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	M		MT-ND1				Guo, L. J.  et al. 2005	16060290							Japan	CDC GDPinfo					Mitochondrion. 2005 Feb;5(1):15-33	Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity.		516000	23008	2	2005												
142866		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND2				Huerta, C.  et al. 2005	15975594						Spanish	Spain	CDC GDPinfo					Journal of the neurological sciences. 2005 Sep;236(2-Jan):49-54	Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.		516001	23009	2	2005												
142867		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	M		MT-ND3				Ishikawa, Y.  et al. 2001	11607774								CDC GDPinfo					Bone marrow transplantation. 2001 Sep;28(6):603-7	Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation		516002	23010	2	2001	These results suggest that polymorphisms which generate peptides, with and without substitutions, that bind the same HLA molecule hardly influence GVHD because the difference between the HLA-peptide complexes is minute.	Cohort 340 recipients transplanted with HLA-A, -B, -DRB1 allele-matched bone marrow from unrelated donors 										
142868		bipolar disorder	PSYCH	PSY	Bipolar Disorder	M		MT-ND3				Washizuka, S.  et al. 2003	14604458								CDC GDPinfo					The international journal of neuropsychopharmacology. 2003 Dec;6(4):421-4	Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder.		516002	23011	2	2003	Our findings suggest that the mtDNA 10398 polymorphism might be related to maintenance lithium treatment response.	Cohort 54 biplar patients 	lithium									
142869		personality traits	PSYCH	PSY		M		MT-ND3				Kato, C.  et al. 2004	15211636								CDC GDPinfo					American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Jul;128(1):76-9	Mitochondrial DNA polymorphisms and extraversion.		516002	23012	2	2004	Although further studies are recommended for the confirmation, the result may suggest a role of the mitochondrial DNA polymorphism in the personality trait.	Cohort 238 Japanese volunteers 										
142870		diabetes, type 2	METABOLIC	MET		M		MT-ND4				Yu, D.  et al. 2005	15696471								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):14-7	[Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus]		516003	23013	2	2005	 The above findings suggest that mtDNA mutation may be implicated in the pathogenesis of the examined diabetes.	Control:207 non-related and non-diabetic subjects;Case:348 non-related type 2 diabetic patients randomly recruited, whose age at onset of diabetes was less than 45 years										
142871	N	neuropathy, non-arteritic ischaemic optic	NEUROLOGICAL	NEUR	Multiple Sclerosis|Optic Atrophy, Hereditary, Leber	M		MT-ND4				Houshmand, M.  et al. 2004	14671420						Iranian	Iran	CDC GDPinfo					European neurology. 2004 ;51(2):68-71	Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran.		516003	23014	2	2004	Our results suggest that there is no association between Iranian patients with MS and mtDNA point mutations at np 11,778, 3,460, and 14,484.	Control:25 non-related Iranian clinically definite MS patients (16 females and 9 males) without optic nerve:involvement;Case:31 non-related Iranian clinically definite MS patients (23 females and 8 males) with optic nerve:involvement										
142873		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural	M		MT-RNR1				Gallo-Teran, J.  et al. 2002	12530196							Spain	CDC GDPinfo					Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71	[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria]		561000	23033	2	2002	 The A1555G mutation in the mitochondrial DNA has been found to be the most common amongst the Cantabrian population. The A1555G mutation should be suspected in those members of families affected by sensorineural hearing impairment with a maternal inheritance pattern and ototoxicity from treatment with aminoglycoside antibiotics. The 35delG mutation in the GJB2 gene does not seem to be a major cause of deafness in families with late-onset non-syndromic sensorineural hearing loss in our area.	Case:21 patients from 21 non-consanguineous unrelated families affected by late-onset bilateral non-syndromic sensoineural hearing loss:Cantabria										
142875		hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	M		MT-RNR1				Kong, W.  et al. 2002	12772452								CDC GDPinfo					Zhonghua er bi yan hou ke za zhi. 2002 Oct;37(5):338-42	[Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss]		561000	23035	2	2002	 MtDNA4977 deletion had a high detection rate in patients with NSSNHL. MtDNA1555A-->G mutation and mtDNA3243A-->G point mutation may not be common mutations in patients with NSSNHL.	Control:19 control subjects;Case:61 sporadic non-syndromic sensorineural hearing los:pateints										
142876		mitochondrial encephalomyopathy	MITOCHONDRIAL	MITO	Mitochondrial Encephalomyopathies|Speech Disorders|Mental Retardation	M		MT-TE				Uusimaa, J.  et al. 2004	15286228						Finnish		CDC GDPinfo					Pediatrics. 2004 Aug;114(2):443-50	Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population:sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.		590025	23047	2	2004	 Our results emphasize that the analysis of the entire sequence of mtDNA is worthwhile in the diagnostic evaluation of patients with clinically probable mitochondrial encephalomyopathy. The frequency of pathogenic mtDNA mutations was found to be 18% among children with biochemically and histologically defined mitochondrial disease, suggesting that the likelihood of nuclear DNA mutations in such a group is several times higher than that of mtDNA mutations.	Cohort 17 children 										
142879		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TL1				Crispim, D.  et al. 2002	12100083							Brazil	CDC GDPinfo					Clinical endocrinology. 2002 Jul;57(1):141-2	Prevalence of three mitrochondrial DNA mutations in type 2 diabetic patients from southern Brazil		590050	23050	2	2002	In conclusion, the mt3243, mt3316 and mt3394 mutations accounted for only a small proportion of type 2 diabetes in our study and it is unlikely that these mutations are in themselves the cause of this disease. However, further studies will be aimed at investigaating the prevalence of other mitochondrial DNA mutations in diabetes mellitus.	Case:295 unrelated type 2 diabetic patients (231 Caucasians and 64 African-Brazilians) southern Brazil;Control:460 blood donors (305 Caucasian and 155:African-Brazilians)										
142880		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TL1				Yang, T.  et al. 2002	12133550						Japanese		CDC GDPinfo					Chinese medical journal. 2002 May;115(5):753-8	Novel mitochondrial 16S rRNA mutation, 3200T-->C, associated with adult-onset type 2 diabetes.		590050	23051	2	2002	 The results suggest that the 3200T-->C mutation is linked to the development of type 2 diabetes, but that the other observed mutations are neutral. In contrast to the Japanese studies, the 3316G-->A does not appear to be related to type 2 diabetes.	Control:241 normal subjects;Case:277 Chinese type 2 diabetic patients										
142882		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-TQ				Otaegui, D.  et al. 2004	15488317								CDC GDPinfo					Neuroscience letters. 2004 Nov;370(3-Feb):171-4	Mitochondrial polymporphisms in Parkinson's Disease.		590030	23055	2	2004	Our analysis confirm the association between A4336G and PD. Our results with A10398G polymorphism highlight the importance of performing the association studies in ethnically homogeneous populations.											
142885	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	M		MT-CO1				Goodman, J. E.  et al. 2004	15308583						Caucasian		CDC GDPinfo					Carcinogenesis. 2004 Dec;25(12):2467-72	Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.		516030	25274	2	2004	Statistically significant associations with colon cancer were not observed for the other polymorphisms investigated. We have shown for the first time that a haplotype containing ALOX5 G-1752A and G-1699A in a negative regulatory region of the promoter may influence colon cancer risk in Caucasians.	Case:293 African Americans and Caucasianscolon cancer cases;Control:293/304 hospital-based (n=229) and population-based (n=304):controls										
142886		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND3				Huerta, C.  et al. 2005	15975594						Spanish	Spain	CDC GDPinfo					Journal of the neurological sciences. 2005 Sep;236(2-Jan):49-54	Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.		516002	25313	2	2005												
142887	N	neuropathy, non-arteritic ischaemic optic	NEUROLOGICAL	NEUR	Multiple Sclerosis|Optic Atrophy, Hereditary, Leber	M		MT-ND6				Houshmand, M.  et al. 2004	14671420						Iranian	Iran	CDC GDPinfo					European neurology. 2004 ;51(2):68-71	Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran.		516006	25314	2	2004	Our results suggest that there is no association between Iranian patients with MS and mtDNA point mutations at np 11,778, 3,460, and 14,484.	Control:25 non-related Iranian clinically definite MS patients (16 females and 9 males) without optic nerve:involvement;Case:31 non-related Iranian clinically definite MS patients (23 females and 8 males) with optic nerve:involvement										
142888		neuropathy	NEUROLOGICAL	NEUR		M		MT-ND6				Wang, Y.  et al. 2005	15952130						Chinese		CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):334-6	[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients]		516006	25315	2	2005	 In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.											
142889		diabetes, type 2; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	M		MT-RNR1				Guo, L. J.  et al. 2005	16060290							Japan	CDC GDPinfo					Mitochondrion. 2005 Feb;5(1):15-33	Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity.		561000	25323	2	2005												
142890		diabetes, type 2	METABOLIC	MET		M		MT-TE				Tang, D.  et al. 2005	16331560								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):636-40	[Association of mitochondrial DNA variation with type 2 diabetes mellitus.]		590025	25332	2	2005	 The mutations of 3394 (T-->C) and 14693 (A-->G) may contribute to the genetic predisposition to type 2 diabetes; 16189 (T-->C) variant is associated with insulin resistance and risk factor of diabetes.											
142891		hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	M		MT-TL1				Kong, W.  et al. 2002	12772452								CDC GDPinfo					Zhonghua er bi yan hou ke za zhi. 2002 Oct;37(5):338-42	[Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss]		590050	25333	2	2002	 MtDNA4977 deletion had a high detection rate in patients with NSSNHL. MtDNA1555A-->G mutation and mtDNA3243A-->G point mutation may not be common mutations in patients with NSSNHL.	Control:19 control subjects;Case:61 sporadic non-syndromic sensorineural hearing los:pateints										
142892		mitochondrial encephalomyopathy	MITOCHONDRIAL	MITO	Mitochondrial Encephalomyopathies|Speech Disorders|Mental Retardation	M		MT-TR				Uusimaa, J.  et al. 2004	15286228						Finnish		CDC GDPinfo					Pediatrics. 2004 Aug;114(2):443-50	Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population:sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.		590005	25334	2	2004	 Our results emphasize that the analysis of the entire sequence of mtDNA is worthwhile in the diagnostic evaluation of patients with clinically probable mitochondrial encephalomyopathy. The frequency of pathogenic mtDNA mutations was found to be 18% among children with biochemically and histologically defined mitochondrial disease, suggesting that the likelihood of nuclear DNA mutations in such a group is several times higher than that of mtDNA mutations.	Cohort 17 children 										
142893		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	M		MT-TT				Momiyama, Y.  et al. 2003	14680844								CDC GDPinfo					Biochemical and biophysical research communications. 2003 Dec;312(3):858-64	A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes.		590090	25335	2	2003	A common mtDNA variant at 16,189 was found to be associated with LVH in diabetic patients.	Control:100:controls;Case:68/100 diabetic patients with left ventricular hypertrophy (n=68) and without (n=100)										
142894	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	M		MT-CO2				Goodman, J. E.  et al. 2004	15308583						Caucasian		CDC GDPinfo					Carcinogenesis. 2004 Dec;25(12):2467-72	Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk.		516040	26427	2	2004	Statistically significant associations with colon cancer were not observed for the other polymorphisms investigated. We have shown for the first time that a haplotype containing ALOX5 G-1752A and G-1699A in a negative regulatory region of the promoter may influence colon cancer risk in Caucasians.	Case:293 African Americans and Caucasianscolon cancer cases;Control:293/304 hospital-based (n=229) and population-based (n=304):controls										
142895		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND4				Huerta, C.  et al. 2005	15975594						Spanish	Spain	CDC GDPinfo					Journal of the neurological sciences. 2005 Sep;236(2-Jan):49-54	Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.		516003	26443	2	2005												
142896		mitochondrial disorders	MITOCHONDRIAL	MITO	Mitochondrial Diseases	M		MT-TK				Marotta, R.  et al. 2004	14748908						Australian	Australia	CDC GDPinfo					Internal medicine journal. 2004 Jan-Feb;34(2-Jan):9-Oct	Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.		590060	26452	2	2004	Overall, the detection rate of mtDNA point mutations was low. The protean clinical features of mitochondrial disorders and the frequency of partial phenotypes lead to requests for tests in many patients with a relatively low likelihood of mtDNA mutations. An improved algorithm could involve mutation screening appropriate to the phenotype using sequencing of selected mtDNA regions in patients with a high likelihood of mtDNA disease. Features increasing the likelihood of	Cohort 1,725 patients referred to the Melbourne Neuromuscular Research Institute 1990-2001 										
142897		diabetes, type 2	METABOLIC	MET		M		MT-TL1				Tang, D.  et al. 2005	16331560								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):636-40	[Association of mitochondrial DNA variation with type 2 diabetes mellitus.]		590050	26453	2	2005	 The mutations of 3394 (T-->C) and 14693 (A-->G) may contribute to the genetic predisposition to type 2 diabetes; 16189 (T-->C) variant is associated with insulin resistance and risk factor of diabetes.											
142898		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND5				Huerta, C.  et al. 2005	15975594						Spanish	Spain	CDC GDPinfo					Journal of the neurological sciences. 2005 Sep;236(2-Jan):49-54	Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.		516005	27122	2	2005												
142899		diabetes, type 2; liver disease	METABOLIC	MET	Hepatitis, Toxic|Diabetes Mellitus, Type 2	M		MT-CO2				Watanabe, I.  et al. 2003	12732844						Japanese	Japan	CDC GDPinfo					Clinical pharmacology and therapeutics. 2003 May;73(5):435-55	A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.		516040	28619	2	2003	 The double null mutation of GSTT1 and GSTM1 might influence troglitazone-associated abnormal increases of liver enzyme levels.	Case:110 Japanese patients with type 2 diabetes;Control:85 controls recruited through physicians prescribing:troglitazone	troglitazone									
122793			OTHER	OTH	Activated Protein C Resistance|Factor V Deficiency|Thrombophilia	1	1q23	F5	167747815	167822393		Dargaud Y 2003	14531918				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			British journal of haematology. 2003 Oct;123(2):342-5	Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.		227400	2509	1	2003												
122653			OTHER	OTH		1	1q31-q32.1	F13B	195274943	195303020		Bydlowski SP 2003	12893139				Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1			KGB	2165	Hs.435782			Forensic science international. 2003 Jul;135(1):67-71	Genetic data on 12 STRs (F13A01, F13B~~~ FESFPS~~~ LPL~~~ CSF1PO~~~ TPOX~~~ TH01~~~ vWA~~~ D16S539~~~ D7S820~~~ D13S317~~~ D5S818) from four ethnic groups of Sao Paulo~~~ Brazil.		134580	2539	1	2003												
114803			OTHER	OTH		9	9q34.1-q34.2	ABO	135120383	135140451		Lin PH 2003	12919428				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			KGB	28	Hs.561993			Transfusion. 2003 Sep;43(9):1254-9	A unique 502C>T mutation in exon 7 of ABO gene associated with the Bel phenotype in Taiwan.		110300	96	1	2003	 A novel 502C>T mutation was found in the Bel subgroup in Taiwan and successfully developed a rapid and accurate molecular protocol to detect this mutation. To our knowledge, the new Bel allele that was found is unique in Taiwanese residents.											
129783			OTHER	OTH		8	8p22	LPL	19841057	19869049		Bydlowski SP 2003	12893139				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Forensic science international. 2003 Jul;135(1):67-71	Genetic data on 12 STRs (F13A01, F13B~~~ FESFPS~~~ LPL~~~ CSF1PO~~~ TPOX~~~ TH01~~~ vWA~~~ D16S539~~~ D7S820~~~ D13S317~~~ D5S818) from four ethnic groups of Sao Paulo~~~ Brazil.		609708	4328	1	2003												
130365		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Buyse, I. M.  et al. 2000	11055898				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDPinfo	4204	Hs.200716			American journal of human genetics. 2000 Dec;67(6):1428-36	Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene:identification of several novel mutations and polymorphisms.		300005	18205	2	2000	We conclude that  this two-tiered approach provides a sensitive, robust, and efficient strategy for RTT molecular diagnosis.	Cohort 228 unrelated female patients with a diagnosis of possible (209) or classic (19) RTT 										
124046	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Schunkert H et al. 1998	9740618				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Hypertension. 1998 Sep;32(3):510-3	Association between a polymorphism in the G protein beta3 subunit gene and lower renin and elevated diastolic blood pressure levels.		139130	2873	1	1998	Furthermore, the 825T allele was also significantly associated with lower renin and prorenin levels, whereas the aldosterone to renin ratio was elevated in these subjects.											
124063	Y	depression and response to antidepressant treatment	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Schizophrenia	12	12p13	GNB3	6819378	6826818	0.009; 0.01	Zill P et al. 2000	10884039	C825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Neuroreport. 2000 Jun;11(9):1893-7	Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment.		139130	2890	1	2000	The results of this study suggest that the investigated G-protein beta3 subunit seems to be a susceptibility factor for major depression and maybe even for bipolar disorder, but not for schizophrenia											
124131	Y	age at first coronary bypass operation	CARDIOVASCULAR	CARD		17	17pter-p12	GP1BA	4776371	4779067		Donahue BS 2003	14639140				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			KGB	2811	Hs.1472			Anesthesiology. 2003 Dec;99(6):1287-94	Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation.		606672	2907	1	2003	 Genetic variants in TF and GpIbalpha are associated with younger age at first CABG, indicating that the younger and older first-time CABG populations are different on the genetic level. How these genetic differences may account for age-associated differences in perioperative risk will be the subject of future investigations.											
142961	Y	age-related macular degeneration	NEUROLOGICAL	NEUR	Macular Degeneration|Genetic Predisposition to Disease	10	10q11	ERCC6	50336714	50417590		Tuo J et al. Proc Natl Acad Sci U S A. 2006 Jun 13	16754848	putative binding-element alteration on the sequence containing C-6530>G SNP in the 5' flanking region of ERCC6 from Sp1 on the C allele to SP1, GATA-1, and OCT-1 on the G allele.			excision repair cross-complementing rodent repair deficiency, complementation group 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=4557564			KGB	2074	HS.99924			Proceedings of the National Academy of Sciences of the United States of America. 2006 Jun;103(24):9256-61	Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.		609413			2006	The strong AMD predisposition conferred by the ERCC6 and CFH SNPs may result from biological epistasis, because ERCC6 functions in universal transcription as a component of RNA pol I transcription complex.	460 advanced AMD cases and 269 age-matched controls		ERCC6	C-6530>G SNP in the 5' flanking region of ERCC6	CFH	rs380390 in  complement factor H (CFH) intron			Y		
142962	Y	cognitive decline	AGING	AGE	Cognition Disorders	17	17q23.1	MPO	53702215	53713295		Am J Epidemiol. 2006 Jun 15;163(12):1084-90.	16641309	G-463A polymorphism in the promoter region	MPO AA, associated with decreased production of myeloperoxidase	5'promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Memphis, Tennessee, and Pittsburgh, Pennsylvania,		KGB	4353	Hs.458272			American journal of epidemiology. 2006 Jun;163(12):1084-90	Myeloperoxidase polymorphism and cognitive decline in older adults in the health, aging, and body composition study.		606989			2006	In this sample, MPO AA, associated with decreased production of myeloperoxidase, was found to be a risk factor for cognitive decline.	70-79 years at baseline (1997-1998), recruited from Memphis, Tennessee, and Pittsburgh, Pennsylvania,										
142981	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	9	9p24.2	SLC1A1	4480443	4577469	0.002	Arch Gen Psychiatry. 2006;63:778-785.	16818867				glutamate transporter gene solute	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=66773029	Seventy-one probands with /DSM-III-R/ or /DSM-IV/^ OCD		Robert Baertsch	6505	Hs.444915	early-onset OCD	altered glutamatergic concentrations	Archives of general psychiatry. 2006 Jul;63(7):778-85	Association Testing of the Positional and Functional Candidate Gene		133550			2006	 The 3' region of SLC1A1 may contain a susceptibility allele for early-onset OCD, with differential effects in males and females. The results also provide further support for the involvement of a glutamatergic dysfunction in the pathogenesis of early-onset OCD.											
116001	Y	energy expenditure	NORMALVARIATION	NV	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Walston, J.  et al. 2003	12690078				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Obesity research. 2003 Apr;11(4):509-11	Arg64 beta3-adrenoceptor variant and the components of energy expenditure.		109691	15115	2	2003	Our results suggest that the Arg64 Beta 3-adrenoceptor allele contributes significantly to the genetic variability in both resting metabolic rate and thermic effect of feeding.	Cohort 15/25/22 Arg64 homozygotes (n=15), Trp64Arg heterozygotes (n=25) and Trp64 homozygotes (n=22) 										
123957	Y	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	X	Xq13.1	GJB1	70351813	70361769		Meggouh F et al. 1998	9541114				Gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000166.2			KGB	2705	Hs.333303			Journal of medical genetics. 1998 Mar;35(3):251-2	The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.		304040	2851	1	1998												
124040	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818	0.006	von Beckerath N 2003	12618278	T allele	increase in disease severity		Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KEW	2784	Hs.631657			Atherosclerosis. 2003 Mar;167(1):135-9			139130	2867	1	2003	Thus, carrying this allele is associated with the presence as well as the severity of CAD.	Case:998; Control:340										
140770		frontotemporal dementia	NEUROLOGICAL	NEUR	Dementia|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Kowalska A et al. 2002	12121033				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2		Poland	KGB	4137	Hs.101174			Folia neuropathologica. 2002 ;40(1):5-Jan	Microtubule associated protein (tau) gene variability in patients with frontotemporal dementia.		157140	7294	1	2002												
140775	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546	n	Crawford F et al. 1999	10465706				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Neuroscience letters. 1999 May;266(3):193-6	No genetic association between polymorphisms in the Tau gene and Alzheimer's disease in clinic or population based samples.		157140	7299	1	1999												
140785		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Disease Susceptibility	17	17q21.1	MAPT	41327623	41461546		Kwok JB 2004	14991810			haplotype	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Annals of neurology. 2004 Mar;55(3):329-34	Tau haplotypes regulate transcription and are associated with Parkinson's disease.		157140	7309	1	2004												
135232		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Parsian A et al. 1998	9855543				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2		Italy	KGB	6622	Hs.271771			Neurology. 1998 Dec;51(6):1757-9	Mutation sequence analysis and association studies of alpha-synuclein in Parkinson's disease.		163890	5582	1	1998	We conclude that  variation within the alpha-synuclein gene does not play a significant role in the risk for PD in our sample.											
137705		recessive retinitis pigmentosa	OTHER	OTH	Deafness|Retinitis Pigmentosa|Syndrome	1	1q41	USH2A	213862858	214663361		Rivolta C et al. 2000	10775529				Usher syndrome 2A (autosomal recessive, mild)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007123.4			KGB	7399	Hs.232072			American journal of human genetics. 2000 Jun;66(6):1975-8	Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.		608400	6367	1	2000	This study reports Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. 											
114747		cancer	CANCER	CAN		16	16p13.1	ABCC1	15950934	16143774		Mathijssen, R. H.  et al. 2003	12960109				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDPinfo	4363	Hs.391464			Clinical cancer research. 2003 Aug;9(9):3246-53	Irinotecan pathway genotype analysis to predict pharmacokinetics.		158343	20229	2	2003	 It is concluded that genotyping for ABCB1 1236C>T may be one of the factors assisting with dose optimization of irinotecan chemotherapy in cancer patients. Additional investigation is required to confirm these findings in a larger population and to assess relationships between irinotecan disposition and the rare variant genotypes, especially in other ethnic groups.	Cohort 65 cancer patients administered irinotecan as a 90-min infusion (dose, 200-350 mg/m(2)) 	Irinotecan									
114759		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Hansen T 2001	11692183				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			Y Wang	6833	Hs.54470			Diabetologia. 2001 Oct;44(10):1330-4	Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus.		600509	5680	1	2001	We have identified a novel a/t polymorphism of the SUR1 gene promoter which is not associated with Type II diabetes mellitus or measures of beta-cell function. Previous reported non-functional variants of SUR1 associated with Type II diabetes mellitus still need to be accounted for.	Control:203 glucose tolerant control subjects matched for age;Case:455 unrelated Type II diabetic patients										
114755	Y	high insulin concentrations in non-diabetic Mexican Ameri	OTHER	OTH	Diabetes Mellitus, Type 2|Hyperinsulinism	11	11p15.1	ABCC8	17371007	17455025		Goksel DL et al. 1998	9799081				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2		United States	KGB	6833	Hs.54470			Human genetics. 1998 Sep;103(3):280-5	Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia.		600509	5676	1	1998												
114775		affective disorders/ suicide	PSYCH	PSY	Mood Disorders	21	21q22.3	ABCG1	42492867	42590423		Rujescu D 2000	11093066	G2457A polymorphism			ATP-binding cassette, sub-family G (WHITE), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207630			KGB	9619	Hs.124649			Neuropsychobiology. 2000 ;42 Suppl 1:22-5			603076	6644	1	2000												
114836	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Menzaghi C et al. 2002	12086965				Adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		Boston|Japan|Italy	KGB	9370	Hs.80485			Diabetes. 2002 Jul;51(7):2306-12	A haplotype at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome.		605441	6629	1	2002	We conclude that  variability at the adiponectin locus is associated with obesity and other features of the insulin resistance syndrome, but given the nature of the two SNPs, the risk haplotype is most probably a marker in linkage disequilibrium with an as yet unidentified polymorphism that affects plasma adiponectin levels and insulin sensitivity.											
116024		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p12-p11.2	ADRB3	37939672	37943341		Liljedahl, U.  et al. 2003	12544508				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		109691	27375	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
115982		cholesterol, HDL; obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Kim, I. H.   2004	15613846				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Taehan Kanho Hakhoe chi. 2004 Oct;34(6):1108-16	[The Effects of Aerobic Exercise on Hormones, Blood Lipids and Body Composition in Middle-Aged Obese Women according to beta3-Adrenergic Receptor Gene Polymorphisms.]		109691	8547	2	2004	 Aerobic exercise didn't cause differences in persons with differing beta 3-adrenergic receptor gene polymorphisms, but aerobic exercise affected the physiological change in middle-aged obese women. The findings suggest that aerobic exercise is a desirable nursing intervention for obesity control in middle-aged obese women.	Cohort 29 middle aged obese women with over 30%BMI 	physical activity									
116642	Y	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis|Activated Protein C Resistance|Thrombophilia	5	5q21-q22	APC	112101482	112209835		Castaman G et al. 2001	11583311			3'untranslated	Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3		Italy	KGB	324	Hs.158932			Thrombosis and haemostasis. 2001 Sep;86(3):804-8	Phenotypic APC resistance in carriers of the A20210 prothrombin mutation is associated with an increased risk of venous thrombosis.		175100	539	1	2001												
116629	Y	beta-catenin	OTHER	OTH	Colonic Neoplasms	5	5q21-q22	APC	112101482	112209835		Rubinfeld B et al. 1993	8259518				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Science. 1993 Dec;262(5140):1731-4	Association of the APC gene product with beta-catenin.		175100	526	1	1993												
117000		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOC1	50109416	50114446		Wang, C. H.  et al. 2004	15769335				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Zhonghua liu xing bing xue za zhi. 2004 Nov;25(11):982-5	[Genetic association of apoE and apoCI gene polymorphisms with coronary heart disease.]		107710	8800	2	2004	 When the subjects carrying both epsilon4 and H2 alleles, they would have higher risk of suffering from CHD than controls.	Case:186 cases with coronary heart disease;Control:350:controls										
117513		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		dos Santos ML 2004	14693242				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Oral oncology. 2004 Feb;40(2):177-82	The CAG repeat polymorphism in the androgen receptor gene (AR) and its relationship to head and neck cancer.		313700	899	1	2004												
117508		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	X	Xq11.2-q12	AR	66680598	66860844		Li Q 2002	11940333				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Chinese	China	Y Wang	367	Hs.496240			Chinese medical journal. 2002 Feb;115(2):209-13	Polymorphisms and functions of the aldose reductase gene 5' regulatory region in Chinese patients with type 2 diabetes mellitus.		313700	894	1	2002	 The polymorphisms C (-12) G and C (-106) T strongly associated with diabetic retinopathy in the Chinese population have been identified in the regulatory region of the aldose reductase gene.											
117484	Y	complete androgen insensitivity syndrome and Sertoli cell adenoma	OTHER	OTH	Adenoma|Sertoli Cell Tumor|Androgen-Insensitivity Syndrome	X	Xq11.2-q12	AR	66680598	66860844		Ko HM et al. 2001	11293168				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			International journal of gynecological pathology. 2001 Apr;20(2):196-9	Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma.		313700	870	1	2001												
117823	N	colon polyps; adenomatous polyps	CANCER	CAN	Colorectal Neoplasms|Bloom Syndrome|Genetic Predisposition to Disease	15	15q26.1	BLM	89061582	89159690		Cleary, S. P.  et al. 2003	12702560				Bloom syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000057.2			CDC GDPinfo	641	Hs.169348			Cancer research. 2003 Apr;63(8):1769-71	Heterozygosity for the BLM(Ash) mutation and cancer risk.		604610	15446	2	2003	The BLM(Ash) mutation was carried by 0.80% of individuals with colorectal neoplasia, 0.87% of those with any type of cancer and 0.85% of controls. In addition to case-control data, we found no evidence to support a significant relationship between increased cancer risk and heterozygous BLM(Ash) mutations with respect to age of cancer diagnosis, tumor multiplicity or family cancer history.	Case:497/125/767 individuals with colorectal cancer (n=497), with adenomatous polyps (n=125), with noncolorectal:cancers (n=767);Control:944:controls	family history									
118162		asthma; atopy	IMMUNE	IMM	Asthma|Rhinitis|Conjunctivitis, Allergic|Dermatitis, Atopic|Hypersensitivity	16	16p12-q21	CARD15	49288551	49324488		Weidinger, S.  et al. 2005	16008671				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Caucasian		CDC GDPinfo	64127	Hs.592072			Clinical and experimental allergy. 2005 Jul;35(7):866-72	Association of CARD15 polymorphisms with atopy-related traits in a population-based cohort of Caucasian adults.		605956	8993	2	2005	 Genetic variants of CARD15 that might result in inappropriate immunomodulation are not only associated with autoimmune diseases but also with atopic disorders.											
118318	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p22-p21.3	CCK	42274321	42282666		Wang Z et al. 2002	12116180			promoter	Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			KGB	885	Hs.458426			American journal of medical genetics. 2002 Jul;114(5):479-82	Possible association of a cholecystokinin promoter variant to schizophrenia.		118440	1071	1	2002	While our family-based tests seem to support the CCK involvement in schizophrenia, no definite conclusion can be drawn based on such a small sample size. This preliminary finding is subjected to future investigations.	Control:247:controls;Case:85:schizophrenics										
118635		HIV-1 propagation in vitro.	OTHER	OTH	HIV Infections	3	3p21	CCR5	46387429	46392701		Salkowitz JR 2003	14499246			5'promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Clinical immunology (Orlando, Fla). 2003 Sep;108(3):234-40	CCR5 promoter polymorphism determines macrophage CCR5 density and magnitude of HIV-1 propagation in vitro.		601373	1326	1	2003												
118847	Y	Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q22-q32	CD14	139991500	139993439		Griga, T.  et al. 2005	15946916	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			European journal of medical research. 2005 May;10(5):183-6	Association between the promoter polymorphism T/C at position -159 of the CD14 gene and anti-inflammatory therapy in patients with inflammatory bowel disease.		158120	9284	2	2005			anti-inflammatory agent									
138655	N	Glioma	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038	n	Gao L 1997	9815774	?			Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Clinical cancer research. 1997 Jun;3(6):977-81			600160	6907	1	1997												
119371		dermatitis and eczema; IgE levels	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Weidinger, S.  et al. 2005	16134991				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDPinfo	1215	Hs.135626			Allergy. 2005 Oct;60(10):1256-61	Association study of mast cell chymase polymorphisms with atopy.		118938	9431	2	2005	 Results confirm previous observations of a significant association between the CMA1 promoter polymorphism rs1800875 and atopic eczema, but not with serum IgE levels, and support the hypothesis that CMA1 serves as candidate gene for atopic eczema.											
119357		Total IgE	IMMUNE	IMM	Asthma|Rhinitis|Dermatitis, Atopic	14	14q11.2	CMA1	24044551	24047311		Mao XQ 1998	9463800	MCC			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Human heredity. 1998 Jan-Feb;48(1):38-41			118938	1276	1	1998												
119354		Atopic dermatitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Eczema|Hypersensitivity	14	14q11.2	CMA1	24044551	24047311		Tanaka K 1999	10336597	MCC BstXI			Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Clinical and experimental allergy. 1999 Jun;29(6):800-3			118938	1273	1	1999	 These results suggest that pure AE is associated with genetic variants of MCC, and that the genetic basis of pure AE differs from that of AE associated with atopic asthma.											
119502	Y	mitral valve prolapse	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Genetic Predisposition to Disease	2	2q31	COL3A1	189547343	189585717		Chou, H. T.  et al. 2004	15193836				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2	Chinese	China|Taiwan	CDC GDPinfo	1281	Hs.443625			International journal of cardiology. 2004 Jun;95(3-Feb):299-305	Association between COL3A1 collagen gene exon 31 polymorphism and risk of floppy mitral valve/mitral valve prolapse.		120180	9462	2	2004	 This study shows that patients with FMV/MVP have higher frequency of COL3A1 exon 31 GG genotype that supports a role of the COL3A1 exon 31 polymorphism in determining the risk of FMV/MVP among the Chinese population in Taiwan.	Case:100 Chinese patients with FMV/MVP diagnosed by:echocardiography:Taiwan;Control:243 age- and sex-matched normal control subjects										
138866	N	schizophrenia	PSYCH	PSY	Chronic Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530	n	Strous RD et al. 1997	9034544				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 1997 Feb;41(4):493-5	Lack of association of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia.		116790	6947	1	1997												
119948		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Teutsch, S. M.  et al. 2004	14975605				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Australian	Australia	CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2004 Mar;148(2-Jan):218-30	Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients.		123890	25888	2	2004	Our results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms.	Cohort multiple sclerosis patients 										
120075	N	hypercholesterolaemia	OTHER	OTH	Hypercholesterolemia	16	16q24	CYBA	87237197	87244958		Schneider MP 2003	12639216				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			KGB	1535	Hs.513803			Clin Sci (Lond).. 2003 Jul;105(1):97-103	The C242T p22phox polymorphism and endothelium-dependent vasodilation in subjects with hypercholesterolaemia.		608508	1550	1	2003	At a power of 80%, our study excludes a major effect of the C242T CYBA p22phox polymorphism on acetylcholine-mediated endothelium-dependent vasodilation and basal, nitric oxide mediated vascular tone of the human forearm circulation in hypercholesterolemic subjects.	Cohort 90 subjects with elevated cholesterol										
139091	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	22	22q13.1	CYP2D6	40852444	40856827		Kimura, Y.  et al. 2005	15690482				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Hepatology (Baltimore, Md). 2005 Jan;41(1):55-63	Genetic polymorphisms influencing xenobiotic metabolism and transport in patients with primary biliary cirrhosis.		124030	21023	2	2005	In conclusion, genetic polymorphisms of CYP 2D6 and 2E1, PXR, and MDR1 do not appear to play a role in the onset of PBC.	Case:169 patients with primary biliary cirrhosis;Control:225 geographically and sex-matched healthy subjects										
139128		trimipramine pharmakokinetics	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Kirchheiner, J.  et al. 2003	14520122				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of clinical psychopharmacology. 2003 Oct;23(5):459-66	Effects of polymorphisms in CYP2D6, CYP2C9, and CYP2C19 on trimipramine pharmacokinetics.		124030	24257	2	2003	This indicates that both CYP2C enzymes contribute to the demethylation of desmethyltrimipramine and CYP2D6 to further metabolism.	Cohort 42 healthy volunteers 	trimipramine									
139200		muscle damage	NORMALVARIATION	NV	Muscular Diseases	7	7q21.1	CYP3A4	99192539	99219744		Wilke, R. A.  et al. 2005	15900215				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Pharmacogenetics and genomics. 2005 Jun;15(6):415-21	Relative impact of CYP3A genotype and concomitant medication on the severity of atorvastatin-induced muscle damage.		124010	16261	2	2005	The study demonstrates that patients who develop myalgia while taking atorvastatin are more likely to experience a greater degree of muscle damage if they express two copies of CYP3A5*3.	Case:68 myalgia patients and individuals with elevated serum creatine kinase (CK) levels;Control:69:controls	atorvastatin									
139239		cyclosporine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Van Schaik, R. H.  et al. 2002	12324482				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Dutch		CDC GDPinfo	1577	Hs.150276			Clinical chemistry. 2002 Oct;48(10):1668-71	CYP3A5 variant allele frequencies in Dutch Caucasians.		605325	10038	2	2002	 On the basis of its allelic frequency, screening for the CYP3A5*3 allele in the Caucasian population is extremely relevant. In addition, screening for the CYP3A5*2 allele may be taken into consideration in individuals heterozygous for the CYP3A5*3 allele. The CYP3A5*4, *5, *6, and *7 alleles have low allelic frequencies that do not support initial screening.	Cohort 500 healthy Dutch Caucasian blood donors 										
139252	N	1'-hydroxymidazolam; midazolam level	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Shih, P. S. et al. 2002	12433824				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese		CDC GDPinfo	1577	Hs.150276			Drug metabolism and disposition:  the biological f	Pharmacokinetics of midazolam and 1'-hydroxymidazolam in Chinese with different CYP3A5 genotypes.		605325	16268	2	2002	The results indicated that the pharmacokinetics of midazolam and 1'-hydroxymidazolam was independent of CYP3A5 expression. Although the genetic polymorphism of CYP3A5 is well known, the results of this study suggested that the clinical consequence might be insignificant.	Cohort 42 Chinese volunteers 	Midazolam									
139281	N	midazolam clearance	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Floyd, M. D.  et al. 2003	14515058				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	African American		CDC GDPinfo	1577	Hs.150276			Pharmacogenetics. 2003 Oct;13(10):595-606	Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women.		605325	21119	2	2003	In most healthy subjects, variability in intestinal and hepatic CYP3A activity, using midazolam as an in-vivo probe, is modest and common polymorphisms in CYP3A4 and CYP3A5 do not appear to have important functional significance.	Cohort 57 	midozolam rifampin									
139298		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Pakakasama, S.  et al. 2005	15981231				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2		Thailand	CDC GDPinfo	1577	Hs.150276			American journal of hematology. 2005 Jul;79(3):202-5	Polymorphisms of drug-metabolizing enzymes and risk of childhood acute lymphoblastic leukemia.		605325	24291	2	2005												
121180	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Kolsch H et al. 2002	12232784				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			KGB	10858	Hs.25121			Molecular psychiatry. 2002 ;7(8):899-902	Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease.		604087	6677	1	2002	Our results indicate that the CYP46 gene locus may predispose to AD by increasing the 24S-hydroxycholesterol/cholesterol ratio in the brain.	Case:114 Alzheimer's disease patients;Control:144 healthy controls										
121922	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Jin JJ et al. 2003	12511547				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KGB	1906	Hs.511899			Hypertension. 2003 Jan;41(1):163-7	Association of endothelin-1 gene variant with hypertension.		131240	2327	1	2003	Considering the combined impact of obesity and hypertension on the development of cardiovascular and cerebrovascular disorders, T allele carriers might represent elective targets for therapy to lower their body weight.	Cohort large Japanese population sample	body mass									
122094	N	aneurysm, intracranial	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	9	9q33-q34.1	ENG	129617115	129656805		Krex, D.  et al. 2001	11692035			intron	Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	Japanese	Japan	CDC GDPinfo	2022	Hs.76753			Stroke; a journal of cerebral circulation. 2001 Nov;32(11):2689-94	Lack of association between endoglin intron 7 insertion polymorphism and intracranial aneurysms in a white population: evidence of racial/ethnicdifferences		131195	10277	2	2001	 The genetic polymorphism in the vicinity of 3' end of exon 7 in the endoglin gene was not significantly associated with the occurrence of intracranial aneurysms in the white population. There are ethnic-related differences of allele frequencies between our white controls and the previously reported Japanese controls.	Case:121 white patients who had been treated for intracranial aneurysms;Control:124 healthy white blood donors;Control:15 Japanese volunteers										
123118		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Lai, H. C.  et al. 2005	15996722				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDPinfo	356	Hs.2007			Gynecologic oncology. 2005 Oct;99(1):113-8	Genetic polymorphisms of FAS and FASL (CD95/CD95L) genes in cervical carcinogenesis: An analysis ofhaplotype and gene-gene interaction.		134638	21401	2	2005	 The FAS -1377A/-670A haplotype in combination with FASL -844C is associated with cervical carcinogenesis.											
123365		retinal vascular occlusion	UNKNOWN	UNK	Retinal Vein Occlusion|Hypertension|Thrombophilia|Hypercholesterolemia	4	4q28	FGB	155703595	155711688		Weger, M.  et al. 2005	16157382				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Ophthalmology. 2005 Nov;112(11):1910-5	Role of thrombophilic gene polymorphisms in branch retinal vein occlusion.		134830	26009	2	2005	 Our data indicate that the prevalences of the investigated gene polymorphisms do not differ significantly in patients with BRVO and control subjects. This suggests that these polymorphisms are not major risk factors for BRVO.											
123515		human longevity	AGING	AGE		13	13q14.1	FOXO1A	40027816	40138734		Bonafe M 2003	12843179	T/C, +97347 bp			Forkhead box O1A (rhabdomyosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015.2			KGB	2308	Hs.370666			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3299-304	Polymorphic variants of insulin-like growth factor I (IGF-I) receptor and phosphoinositide 3-kinase genes affect IGF-I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.		136533	2695	1	2003												
123633		G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Louicharoen, C.  et al. 2005	16155737				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Cambodian		CDC GDPinfo	2539	Hs.461047			Journal of human genetics. 2005 ;50(9):448-52	G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.		305900	16812	2	2005												
123968	Y	nonsyndromic hearing impairment	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Lopponen T 2003	14520102				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Finland	KGB	2706	Hs.591234			The Laryngoscope. 2003 Oct;113(10):1758-63	Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.		121011	2858	1	2003	 35delG/35delG genotype was found to be a significant cause of moderate to profound prelingual nonsyndromic sensorineural HI in Northern Finland. M34T/M34T genotype was seen in only one child, but the carrier frequency of the M34T allele was about three times higher than that of the 35delG mutation.											
139582	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.2-q13.3	GNAS	56848189	56919645		Jia H et al. 1999	10406816				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			KGB	2778	Hs.125898			Hypertension. 1999 Jul;34(1):14-Aug	Association of the G(s)alpha gene with essential hypertension and response to beta-blockade.		139320	7057	1	1999												
124057	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818	n	Hirashiki A 2003	14563588	825C3T (splice variant)			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Japanese	Japan	KGB	2784	Hs.631657			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		139130	2884	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
124173	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q24.1	GPD2	157000198	157178493		St-Pierre, J.  et al. 2001	11243726				Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000408.2	Canadian	Canada|France	CDC GDPinfo	2820	Hs.512382			Molecular genetics and metabolism. 2001 Mar;72(3):209-17	A sequence variation in the mitochondrial glycerol-3-phosphate dehydrogenase gene is associated with increased plasma glycerol and free fatty acid concentrations among French Canadians		138430	16978	2	2001	The absence of a relation between mGPD genotype and DM is in accordance with the view that DM is a complex phenotype in which increased plasma FFA or glycerol concentrations result from metabolic alterations which might obscure the effect of the mGPD polymorphism.	Control:318 nondiabetic, nonobese, normotriglyceridemic French:Canadians;Case:81 recently diagnosed type 2 DM French Canadians:Canada										
124830	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Wikman, H.  et al. 2002	11927838				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		600436	26107	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
124811		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Larsen, J. E.  et al. 2005	16195240				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Carcinogenesis. 2005	CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung.		600436	26088	2	2005			smoking (tobacco)									
124749	N	cytogenetic studies	OTHER	OTH	Chromosome Disorders|Chromosomal Instability	22	22q11.23	GSTT1	22706140	22714231		Waksmanski, B.  et al. 2003	14669454				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Ginekologia polska. 2003 Oct;74(10):1415-20	[Manifestation of glutathione S-transferase GSTM1 and GSTT1 in female patients with bleomycin-positive chromosome instability]		600436	21659	2	2003	 No relationship between the manifestation of genotypes for the GSTM1 and GSTT1 glutathione S-transferases and an increased chromosome instability confirmed with the bleomycin test was proven for a population of females with a neoplastic risk.	Cohort 85 females with chromosome instability 										
142409	N	nasopharyngeal carcinoma	CANCER	CAN	Nasopharyngeal Neoplasms	6		HLA	29903802	30085613	n	Li PK et al. 1995	7773959						Chinese	China	KGB					Cancer genetics and cytogenetics. 1995 May;81(1):42-5	No association between HLA-DQ and -DR genotypes with nasopharyngeal carcinoma in southern Chinese.			7774	1	1995												
142421	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Autoimmune Diseases|Disease Susceptibility|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Hong GH et al. 1994	7911834						Korean	Korea	KGB					The Journal of rheumatology. 1994 Mar;21(3):442-7	Association of complement C4 and HLA-DR alleles with systemic lupus erythematosus in Koreans.			7786	1	1994												
142434		Graves disease	IMMUNE	IMM	Graves Disease	6		HLA	29903802	30085613		Poncet D et al. 1980	6932402								KGB					The Journal of clinical endocrinology and metabolism. 1980 Oct;51(4):863-7	HLA and Graves' disease: an association with HLA-DRw3.			7799	1	1980												
142440		diabetes mellitus	METABOLIC	MET	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Ronningen KS et al. 1993	8477801								KGB					European journal of immunology. 1993 May;23(5):1050-6	Linkage disequilibrium between TAP2 variants and HLA class II alleles; no primary association between TAP2 variants and insulin-dependent diabetes mellitus.			7805	1	1993												
142460	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Zhu NS et al. 1994	7987717	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Chinese		KGB	3123	Hs.534322			Zhonghua yi xue za zhi. 1994 Jul;74(7):428-30, 456	The molecular basis of HLA DR4 alleles associated with rheumatoid arthritis in a Chinese population		142857	7825	1	1994												
142479	Y	autologous mixed lymphocyte reaction	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Fathman CG et al. 1984	6238447	DR3, DR6			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Tissue antigens. 1984 Aug;24(2):98-106	Association of HLA-DR antigens with the autologous mixed lymphocyte reaction.		142857	7844	1	1984												
142493	Y	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-DRB1	32593131	32665559		Lin YC et al. 2002	12169181	DR13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Allergy. 2002 Sep;57(9):831-4	The association between tumor necrosis factor HLA-DR alleles and IgE-mediated asthma in Taiwanese adolescents.		142857	7858	1	2002	 In Taiwanese children sensitized to Der f, the DR13(+)/LTalphaNcoI*1 haplotype was associated with a much higher risk of having clinical asthma than any other DR13/LTalphaNcoI haplotype.											
142519	Y	Semple rabies vaccine-induced autoimmune encephalomyelitis	IMMUNE	IMM	Encephalomyelitis	6		HLA	29903802	30085613		Piyasirisilp S et al. 1999	10319881								KGB					Annals of neurology. 1999 May;45(5):595-600	Association of HLA and T-cell receptor gene polymorphisms with Semple rabies vaccine-induced autoimmune encephalomyelitis.			7884	1	1999												
142545		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Vandevyver C et al. 1994	7979596	DRB1*04			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Annals of the rheumatic diseases. 1994 Sep;53(9):580-6	HLA class II and T-cell receptor beta chain polymorphisms in Belgian patients with rheumatoid arthritis: no evidence for disease association with the TCRBC2 TCRBV8 and TCRBV11 polymorphisms.		142857	7910	1	1994												
142559	Y	systemic sclerosis	OTHER	OTH	Scleroderma, Systemic	6		HLA	29903802	30085613		Kuwana M et al. 1995	8546531						Japanese	Japan	KGB					Annals of the rheumatic diseases. 1995 Dec;54(12):983-7	HLA class II genes associated with anticentromere antibody in Japanese patients with systemic sclerosis (scleroderma).			7924	1	1995												
139713	Y	rheumatoid arthritis	IMMUNE	IMM	Rheumatoid Nodule|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mattey DL et al. 2002	12415586	HLA-DRB1*0401		coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322	smoking		The Journal of rheumatology. 2002 Nov;29(11):2313-8	Nodular disease in rheumatoid arthritis: association with cigarette smoking and HLA-DRB1/TNF gene interaction.		142857	7088	1	2002	 Our data indicate that nodular disease in RA is independently associated with current cigarette smoking, seropositivity, and homozygosity for HLA-DRB1*0401. The latter association involves a possible interaction with the TNF a6 microsatellite allele.	Case:420										
139877		hepatitis C viral load	INFECTION	INF	Hepatitis C|Viremia	6	6p21.3	HLA-DRB1	32593131	32665559		Fanning, L. J.  et al. 2001	11124840				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Hepatology (Baltimore, Md). 2001 Jan;33(1):224-30	HLA class II genes determine the natural variance of hepatitis C viral load.		142857	22125	2	2001	Our results define an association between the slope of change of viral load and HLA class II haplotype in patients infected with genotype 1b of HCV. This suggests a role for host immunogenetic factors in HCV infection in this homogeneous group.	Cohort 57 viremic (hepatitis C virus [HCV] 1b) women, infected during the period from May 1977 to November 1978 										
139975		leukemia	CANCER	CAN		6	6p21.3	HLA-DRB1	32593131	32665559		Zhou, L. X.  et al. 2005	16143070				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Xi bao yu fen zi mian yi xue za zhi. 2005 Sep;21(5):619-21	[Correlation between the polymorphism of HLA-A, -B, and -DRB1 alleles and susceptibility to leukemia.]		142857	24702	2	2005	 HLA-A01, -B38 and -DR15 alleles in Han population, Gansu province seem to contribute to the genetic susceptibility, while HLA-A11 and -DR03 alleles to the genetic resistance, to leukemia.											
140023		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Maciag, P. C.  et al. 2000	11097225				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Brazil	CDC GDPinfo	3123	Hs.534322			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1183-91	Major histocompatibility complex class II polymorphisms and risk of cervical cancer and human papillomavirus infection in Brazilian women		142857	24750	2	2000	We suggest that HLA class II polymorphisms are involved in genetic susceptibility to cervical cancer and HPV infection in a Brazilian population from an area with a high incidence of this neoplasia.	Case:161 cases of cervical cancer:Brasil;Control:257:controls	papilloma virus									
126832	N	mood disorders	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major	X	Xq24	HTR2C	113724806	114050880	n	Serretti A et al. 2000	10758249			coding sequence	5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Italian (Caucasian)		Serretti	3358	Hs.149037			Journal of psychiatric research. 2000 Mar-Apr;34(2):89-98	Serotonin receptor 2A, 2C, 1A genes and response to lithium prophylaxis in mood disorders		312861	3333	1	2000		Case:bipolar (n=102) and major depressive (n=22)										
127652		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Santiago, J. L.  et al. 2005	16216674				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Spanish	Spain	CDC GDPinfo	3593	Hs.674			Human immunology. 2005 Aug;66(8):897-902	Th1 cytokine polymorphisms in spanish patients with type 1 diabetes.		161561	22455	2	2005												
127620	N	susceptibility to tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059	n	Ma X 2003	14551880			3'untranslated	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			KGB	3593	Hs.674			The Journal of infectious diseases. 2003 Oct;188(8):1116-8	No evidence for association between the polymorphism in the 3' untranslated region of interleukin-12B and human susceptibility to tuberculosis.		161561	3873	1	2003	Our results suggest that IL-12B 3' UTR has no effect or has a negligible effect on human susceptibility to TB.	Case adult patients with TB from 2 ethnicities, African American and white										
128865	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	4	4q34.1-q35.1	IRF2	185545908	185632697		Nishio Y et al. 2001	11721886				Interferon regulatory factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002199.2			KGB	3660	Hs.374097			Journal of human genetics. 2001 ;46(11):664-7	Mutation and association analysis of the interferon regulatory factor 2 gene (IRF2) with atopic dermatitis.		147576	4055	1	2001	Our data suggest that IRF-2 plays some role in the development of AD in the Japanese population.	Cohort atopic dermatitis patients ;Control controls not otherwise specified in abstract										
128870		Van der Woude syndrome	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Syndrome	1	1q32.3-q41	IRF6	208027884	208046102		Gatta V 2004	15013698				Interferon regulatory factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006147.2	Italian	Italy	KGB	3664	Hs.591415			Mutation research. 2004 Mar;547(2-Jan):49-53	A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.		607199	4057	1	2004												
127822		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		McDevitt MJ et al. 2000	10711605				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		United States|Europe	KGB	3552	Hs.1722			Journal of periodontology. 2000 Feb;71(2):156-63	Interleukin-1 genetic association with periodontitis in clinical practice.		147760	3461	1	2000	 This study demonstrates that the composite IL-1 genotype is significantly associated with the severity of adult periodontitis. It also confirmed that both IL-1 genotyping and smoking history provide objective risk factors for periodontal disease in a private practice environment.											
128158		lichen sclerosus	OTHER	OTH	Lichen Sclerosus et Atrophicus	2	2q14.2	IL1RN	113573407	113608064		Clay FE et al. 1994	7927338				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Human genetics. 1994 Oct;94(4):407-10	Interleukin 1 receptor antagonist gene polymorphism association with lichen sclerosus.		147679	3583	1	1994												
128133		Polymylagia Rheumatica	IMMUNE	IMM	Polymyalgia Rheumatica|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Boiardi L 2000	11138328	4845			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Caucasians of Italian origin		KGB	3557	Hs.81134			Clinical and experimental rheumatology. 2000 Nov-Dec;18(6):675-81			147679	3557	1	2000	 Our findings show that IL1RN*2 allele, particularly in the homozygous state, is associated with susceptibility to, but not with the severity of, PMR.	Case:92; Control:79										
128344		endometriosis.	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Hsieh YY et al. 2002	11968047			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Journal of clinical laboratory analysis. 2002 ;16(3):121-6	Polymorphisms for interleukin-4 (IL-4) -590 promoter IL-4 intron3 and tumor necrosis factor alpha -308 promoter: non-association with endometriosis.		147780	3655	1	2002												
128307	Y	increased IgE	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	0.05	Suzuki I 2000	11122213	C+33T polymorphism with elevated total serum IgE			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Clinical and experimental allergy. 2000 Dec;30(12):1746-9	Association between a C+33T polymorphism in the IL-4 promoter region and total serum IgE levels.		147780	3618	1	2000	The data suggest that IL-4 promoter C+33T polymorphism may be one of the genetic polymorphisms that explain genetic linkage or association between elevated total serum IgE levels and markers on chromosome 5q.	Case:120:asthmatics:Japanese;Control:120 healthy controls:Japanese										
128520		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Mujica-Lopez KI et al. 2002	12358844				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Mexico	KGB	3566	Hs.513457			European journal of immunogenetics. 2002 Oct;29(5):375-8	Association analysis of polymorphisms in the interleukin-4 receptor (alpha) gene with atopic asthma in patients from western Mexico.		147781	3744	1	2002												
139009	Y	emphysema	OTHER	OTH	Pulmonary Emphysema	19	19q13.2	CYP2A6	46041283	46048180		Minematsu, N.  et al. 2003	12832682				cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Thorax. 2003 Jul;58(7):623-8	Association of CYP2A6 deletion polymorphism with smoking habit and development of pulmonary emphysema.		123960	9846	2	2003	 Subjects with the CYP2A6del allele tend not to be heavy habitual smokers but can be light habitual smokers. The CYP2A6del polymorphism may inhibit smokers from giving up smoking, but appears to function as a protective factor against the development of pulmonary emphysema independent of smoking habit.	Control:123 non-smoking healthy volunteers;Case:203 current or ex-smokers smokers (lifelong cigarette consumption (CC) >/=10 pack years) with subclinical and established COPD phenotypes	smoking (tobacco)									
128448	N	Atopic dermatitis	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	Glu400Ala			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3672	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
140344	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7p21	IL6	22733322	22738141	n	Kruger R. 2000	11072751	-236	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Germany	KGB	3569	Hs.512234			J Neural Transm. 2000 ;107(5):553-62	Genetic analysis of immunomodulating factors in sporadic Parkinson's disease		147620	7186	1	2000	suggested involvement of immunomodulating factors in the pathogenesis of sporadic PD as revealed by a molecular genetic approach.	Control:183 age and sex matched healthy controls:Germany;Case:264 sporadic PD patients:Germany										
140377	Y	Coronary Heart Disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	P=0.01	Vickers MA 2002	11922913	-174G/C	Expression of the CRP gene during the acute-phase reaction is regulated by IL-6 although the importance of IL-6 in determining baseline plasma levels of CRP is unknown.	5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			TJB	3569	Hs.512234	Baseline levels of plasma C-reactive protein		Cardiovascular research. 2002 Mar;53(4):1029-34			147620	7219	1	2002	 Baseline plasma CRP is a significantly heritable cardiovascular risk factor. Levels are associated with genotype at the -174G/C polymorphism of the IL-6 gene.											
140387		Multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	7	7p21	IL6	22733322	22738141		Vandenbroeck K. 2000	11196678	VNTR	no association with disease risk. association with disease course		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Italy	KGB	3569	Hs.512234			Genes and immunity. 2000 Oct;1(7):460-3			147620	7229	1	2000												
140528	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Martinez, A.  et al. 2003	12618859				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Spanish	Spain	CDC GDPinfo	3569	Hs.512234			Genes and immunity. 2003 Mar;4(2):117-21	Genetic polymorphisms in Spanish rheumatoid arthritis patients: an association and linkagestudy.		147620	26309	2	2003	Our data suggest that most of the loci studied play no major role in the susceptibility to RA, the IL-10 gene being the sole exception.	Case rheumatoid arthritis patients;Control:controls										
128740		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Awata T 2004	3005097				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese		Y Wang	3630	Hs.89832			Diabetologia. 1985 Dec;28(12):911-3	Restriction fragment length polymorphism of the insulin gene region in Japanese diabetic and non-diabetic subjects.		176730	3999	1	2004												
128731		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility	11	11p15.5	INS	2106922	2139015		Halminen M 2004	8911856				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Finnish		Y Wang	3630	Hs.89832			European journal of clinical investigation. 1996 Oct;26(10):847-52	Effect of polymorphism in the insulin gene region on IDDM susceptibility and insulin secretion. The Childhood Diabetes in Finland (DiMe) Study Group.		176730	3990	1	2004												
128721		diabetes, type 2	METABOLIC	MET	Pregnancy in Diabetics|Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Ober C 87	2892412				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832	Complications		American journal of obstetrics and gynecology. 1987 Dec;157(6):1364-8	Restriction fragment length polymorphisms of the insulin gene hypervariable region in gestational onset diabetes mellitus.		176730	3980	1	1987												
128714		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Owerbach D 2004	7909987				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			American journal of human genetics. 1994 May;54(5):909-12	Linkage of the VNTR/insulin-gene and type I diabetes mellitus: increased gene sharing in affected sibling pairs.		176730	3973	1	2004												
128708		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		van der Auwera BJ 2004	8495808				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetes. 1993 Jun;42(6):851-4	5' insulin gene polymorphism confers risk to IDDM independently of HLA class II susceptibility		176730	3967	1	2004												
128698	N	hyperandrogenism	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism|Insulin Resistance|Hyperandrogenism	11	11p15.5	INS	2106922	2139015	n	Calvo RM et al. 2002	11937112				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Spanish	Spain	KGB	3630	Hs.89832			Fertility and sterility. 2002 Apr;77(4):666-8	Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women.		176730	3956	1	2002												
128683	N	maturity-onset diabetes of young people	OTHER	OTH	Diabetes Mellitus	11	11p15.5	INS	2106922	2139015	n	Jaiswal AK et al. 1983	6309587				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			KGB	3630	Hs.89832			Diabetologia. 1983 Jul;25(1):18-20	DNA insertion sequences near the insulin gene are not associated with maturity-onset diabetes of young people.		176730	3941	1	1983												
140619		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome|Disease Progression	11	11p15.5	KCNQ1	2422796	2826916		Priori, S. G.  et al. 2004	15367556				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			JAMA. 2004 Sep;292(11):1341-4	Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers		607542	22703	2	2004	 Among patients with genetic LQTS treated with beta-blockers, there is a high rate of cardiac events, particularly among patients with LQT2 and LQT3 genotypes.	Cohort 335 consecutive LQTS-genotyped patients Italy 	beta blockers									
140677	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Sigmoid Neoplasms|Rectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Senagore AJ et al. 1997	9347854				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033	long-term survival		Surgery. 1997 Oct;122(4):765-70	A newly identified pattern of K-ras mutations at codons 12 and 13 is associated with long-term survival in colorectal cancer.		190070	4190	1	1997	 Simultaneous mutation in codons 12 and 13 of the K-ras gene appears to be a positive prognostic indicator in colorectal cancer.											
129443	Y	hypertension	CARDIOVASCULAR	CARD		2	2q22.3	KYNU	143351664	143516355		Zhang, Y.  et al. 2005	16080802				Kynureninase (L-kynurenine hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003937.2			CDC GDPinfo	8942	Hs.470126			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):588-91	[A polymorphism of kynureninase gene in a hypertensive candidate chromosomal region is associated with essential hypertension]		605197	12116	2	2005	 The Lys412Glu polymorphism of the KYNU gene in a hypertensive candidate chromosomal region is associated with essential hypertension in Han Chinese.											
129536		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Yu, W.  et al. 2002	12417285				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Japan	CDC GDPinfo	3949	Hs.213289			Atherosclerosis. 2002 Dec;165(2):335-42	Molecular genetic analysis of familial hypercholesterolemia: spectrum and regionaldifference of LDL receptor gene mutations in Japanese population.		606945	25173	2	2002	The most common mutations were K790X (19.5%), P664L (6.0%), FH-Tonami-1 (6.0%), IVS15-3C>A (5.5%) and FH-Tonami-2 (4.5%), whereas the other mutations were rare. No apolipoprotein B (apoB) mutations responsible for familial ligand-defective apoB-100 (FDB)	Cohort 200 unrelated Japanese patients with clinically diagnosed heterozygous familial hypercholesterolemia 										
129608		melanoma; skin cancer, non-melanoma	CANCER	CAN	Melanoma|Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Han, J.  et al. 2004	15126335				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDPinfo	3981	Hs.166091			Cancer research. 2004 May;64(9):3009-13	Polymorphisms in DNA double-strand break repair genes and skin cancer risk.		601837	14834	2	2004	The main effects of these genotypes were essentially null for melanoma risk. This study provides evidence to suggest the role of the DSB repair pathway in skin cancer development, especially for BCC.	Case:219/286/300 melanoma (n=219), squamous cell carcinoma (n=286) and basal cell carcinoma (n=300) cases;Control:873:controls										
129872		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q13.4	LRP5	67836683	67973319		Twells RC 2003	12700977				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			KGB	4041	Hs.6347			Human genetics. 2003 Jul;113(2):99-105	Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes.		603506	4345	1	2003												
140778	Y	inherited dementia FTDP-17	OTHER	OTH	Dementia|Nerve Degeneration	17	17q21.1	MAPT	41327623	41461546		Hutton M et al. 1998	9641683			splice variant	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Nature. 1998 Jun;393(6686):702-5	Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.		157140	7302	1	1998												
130229	N	Acute Otitis Media and Early Epstein- Barr Virus Infection	OTHER	OTH	Community-Acquired Infections|Epstein-Barr Virus Infections|Otitis Media|Acute Disease|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	n	Homoe P 1999	10528874	AA. Codon 54. and Codon 52 ???			mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Greenland	Greenland	KGB	4153	Hs.499674			Scandinavian journal of infectious diseases. 1999 ;31(4):363-6			154545	4457	1	1999	The study suggests that low MBL level does not by itself predispose to AOM in community-based, unselected children.											
130283	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	18	18q23	MBP	72819776	72973762			14714495				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1		Russia	CDC GDPinfo	4155	Hs.551713			Molekuliarnaia biologiia. 2003 Nov-Dec;37(6):999-1006	[In Process Citation]		159430	22838	2	2003	The results obtained are in favor of the genetic heterogeneity of multiple sclerosis, and suggest the possibility of epistatic interactions between the MBP and DRB1 genes.	Case:126 patients with reliable multiple sclerosis Central Russia;Control:142 healthy controls										
130334	Y	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Geller, F.  et al. 2004	14973783				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDPinfo	4160	Hs.532833			American journal of human genetics. 2004 Mar;74(3):572-81	Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.		155541	18192	2	2004	This report on an SNP/haplotype that is negatively associated with obesity expands the successful application of meta-analysis of modest effects in common diseases to a variant with a carrier frequency well below 10%. The respective protective effect against obesity implies that variation in the MC4R gene entails both loss and gain of function.	Control:controls;Case obese individuals from two large case-control:studies;Case obese individuals from 12 published studies and the two large case-control studies;Control:controls										
130377	Y	mental disorder	DEVELOPMENTAL	DEV	Mental Retardation|Genetic Predisposition to Disease	X	Xq28	MECP2	152940457	153055772		Dos Santos, J. M.  et al. 2005	15814190				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2		Brazil	CDC GDPinfo	4204	Hs.200716			Neuroscience letters. 2005 Apr;379(1):13-6	The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.		300005	18217	2	2005	We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation.	Cohort 363 male individuals with syndromic and non-syndromic mental retardation and other psychiatric diseases 										
130412		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis, Familial	16	16p13.3	MEFV	3232028	3246628			15643295				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Turkish	Turkey	CDC GDPinfo	4210	Hs.632221			Medicine. 2005 Jan;84(1):11-Jan	Familial Mediterranean fever (FMF) in Turkey:results of a nationwide multicenter study.		608107	18243	2	2005	To our knowledge, this is the largest series of patients with FMF reported from 1 country. We describe the features of the disease in the Turkish population and show that amyloidosis is still a substantial problem.	Cohort 2,838 patients (mean age, 23.0 +/- 13.33 yr; range, 2-87 										
130392	Y	Mediterranean fever	OTHER	OTH	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Timmann C et al. 2001	11470495				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			KGB	4210	Hs.632221			Mutation research. 2001 Aug;479(2-Jan):235-9	Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.		608107	4488	1	2001												
130463	N	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Arteriosclerosis|Calcinosis	12	12p13.1-p12.3	MGP	14926093	14930095		Kobayashi, N.  et al. 2004	15864013	T-138C		promoter	Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDPinfo	4256	Hs.365706			The Kobe journal of medical sciences. 2004 ;50(4-Mar):69-81	T-138C polymorphism of matrix gla protein promoter alters its expression but is not directly associated with atherosclerotic vascular calcification.		154870	12360	2	2004	Although MGP promoter activity and the binding of the AP-1 transcription factor were clearly different between T-138 and C-138 MGP promoter polymorphism in vitro, T-138C polymorphism was, statistically, not an independent factor of atherosclerosis or atherosclerotic vascular calcification in the abdominal aorta.	Cohort 108 autopsy cases 										
130586		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	3	3p21.3	MLH1	37009982	37067341		Krajinovic, M.  et al. 2002	11895912				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		120436	28085	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
130594	Y	anxiety	PSYCH	PSY	Substance-Related Disorders|Anxiety Disorders|Obsessive-Compulsive Disorder|Phobic Disorders|Depressive Disorder	3	3q25.1-q25.2	MME	156280129	156384212	0.0125	Comings DE et al. 2000	10994648				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902		United States	KGB	4311	Hs.307734			Psychiatric genetics. 2000 Jun;10(2):91-4	Association of the neutral endopeptidase (MME) gene with anxiety.		120520	4532	1	2000	There was a significant association between the MME genotypes and the SCL-90 scores for phobic anxiety, obsessive-compulsive and anxiety at a Bonferroni corrected alpha value of 0.0125. These results support a role of genetic variants of enkephalin metabolism in anxiety.											
130777		liver disease, chronic	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	11	11q22.3	MMP3	102211737	102219552		Okamoto, K.  et al. 2005	15955221				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of gastroenterology and hepatology. 2005 Jul;20(7):1102-8	Association of functional gene polymorphisms of matrix metalloproteinase (MMP)-1, MMP-3 and MMP-9 with the progression of chronic liver disease.		185250	25246	2	2005	 These findings suggest that MMP-1, MMP-3, and MMP-9 gene polymorphisms account for some of the variability in the progression of HCV-related chronic liver diseases.											
130905		breast cancer	CANCER	CAN		17	17q23.1	MPO	53702215	53713295		Kameoka, Y.  et al. 2004	15507753				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Japanese		CDC GDPinfo	4353	Hs.458272			Japanese journal of infectious diseases. 2004 Oct;57(5):S12-3	Genomic variations in myeloperoxidase gene in the Japanese population.		606989	18350	2	2004	The frequency of mutation in the exon 9 coding region was estimated to be one heterozygote in 129, thus the homozygote of such mutations would be revealed one in 16,000 in the Japanese population.	Cohort 387 Japanese individuals 										
130879	N	H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Katsuda, N.  et al. 2003	12810834	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Japanese		CDC GDPinfo	4353	Hs.458272			Japanese journal of clinical oncology. 2003 Apr;33(4):192-7	Helicobacter pylori seropositivity and the myeloperoxidase G-463A polymorphism in combination with interleukin-1B C-31T in Japanese health checkup examinees.		606989	12508	2	2003	 The association between MPO G-463A and HP seropositivity was not reproduced in this study. The effect of IL-1B -31TT was more prominent among individuals with the low expression MPO -463A allele, but it remains to be confirmed for other datasets.	Cohort 468 health checkup examinees Nagoya, Japan 										
131040		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Baudhuin, L. M.  et al. 2005	15858146				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			The Journal of molecular diagnostics. 2005 May;7(2):226-35	Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.		120435	22947	2	2005												
131185	Y	asthma; atopy	IMMUNE	IMM	Lung Diseases	11	11p15.5	MUC2	1064874	1094417		Vinall, L. E.  et al. 2000	11062147				Mucin 2, intestinal/tracheal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002457.1			CDC GDPinfo	4583	Hs.315			American journal of respiratory cell and molecular biology. 2000 Nov;23(5):678-86	Polymorphism of human mucin genes in chest disease:possible significance of MUC2.		158370	23057	2	2000	The observations suggest that longer MUC2 alleles may help protect atopic individuals from developing asthma, though the effect may be due to a linked gene.	Case:50 atopic patients with asthma:London, England;Control:50 age- and sex-matched atopic patients without asthma:London, England										
131199		germline mutations	OTHER	OTH	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Gismondi V 2004	14999774				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Italian	Italy	KGB	4595	Hs.271353			International journal of cancer. Journal international du cancer. 2004 May;109(5):680-4	Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.		604933	4626	1	2004	These results indicated that MYH-associated polyposis (MAP) is present in about 20% of Italian FAP/AAPC patients, in whom no germline APC mutation is detectable and showing a family history compatible with recessive inheritance, and in a small fraction of patients with colorectal adenomas in the general population. In addition, our data suggest that mutation 1395delGGA is a subpolymorphic MYH mutational event in some Caucasian populations.	Control:141/52 normal-population adenoma patients (n=141) and clean colon controls (n=52);Case:70 familial adenomatous polyposis patients with no detectable APC mutation and a family history compatible with recessive inheritance:Italy										
131346		leukemia, childhood acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Disease Susceptibility	8	8p23.1-p21.3	NAT1	18111894	18125100		Krajinovic, M.  et al. 2002	11895912				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDPinfo	9	Hs.591847			Clinical cancer research. 2002 Mar;8(3):802-10	Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia.		108345	28305	2	2002	 Our findings suggest that determining individual genotypes can become important in predicting disease outcome. Genotyping could also guide the therapeutic protocol.	Cohort 320 children with acute lymphoblastic leukemia 										
131485	Y	affective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11q23.1	NCAM1	112337204	112654368		Arai M 2004	15050861				Neural cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000615.4	Japanese	Japan	KGB	4684	Hs.503878			Biological psychiatry. 2004 Apr;55(8):804-10	Association of neural cell adhesion molecule 1 gene polymorphisms with bipolar affective disorder in Japanese individuals.		116930	4652	1	2004	 Our results suggest that genetic variations in NCAM1 or nearby genes could confer risks associated with bipolar affective disorder in Japanese individuals.	Case:151/78 Japanese bipolar disorder patients (n=151) and unipolar disorder patients (n=78);Control:357 unrelated control individuals										
131493		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q12	NCOA3	45564063	45719021		Colilla, S.  et al. 2005	16244359				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDPinfo	8202	Hs.592142			Carcinogenesis. 2005	The joint effect of smoking and AIB1 on breast cancer risk in BRCA1 mutation carriers.		601937	18534	2	2005			smoking (tobacco)									
131623	Y	Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965	P=0.008	Gao P 2000	10673365	Intragenic (intron 2) microsatellite			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1		Great Britain	KCB	4842	Hs.253420			Biochemical and biophysical research communications. 2000 Jan;267(3):761-3			163731	4698	1	2000												
132053	Y	schizophrenia	PSYCH	PSY	Schizophrenia	12	12p13	NTF3	5411747	5474726		Hattori M et al. 1995	7733919				neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3			KGB	4908	Hs.99171			Biochemical and biophysical research communications. 1995 Apr;209(2):513-8	Association of neurotrophin-3 gene variant with severe forms of schizophrenia.		162660	4785	1	1995												
132108		neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	3	3p26.2	OGG1	9765704	9783342		Olshan, A. F.  et al. 2005	15887293				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDPinfo	4968	Hs.380271			American journal of medical genetics Part A. 2005 Jun;135(3):268-73	Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts.		601982	25395	2	2005	This study suggested that polymorphisms of DNA repair genes, representing different major repair pathways, may affect risk of two major birth defects. Future, larger studies, examining additional repair genes, birth defects, and interaction with exposures are recommended.	Case:250 cases (125 spina bifida, 125 oral clefts) identified by the California Birth Defects Monitoring Program;Control:350 non-malformation controls										
132374		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss|Retinitis Pigmentosa	10	10p11.2-q21	PCDH15	55250865	57057708		Brownstein, Z.  et al. 2004	15028842				Protocadherin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033056.2	Jewish	Israel	CDC GDPinfo	65217	Hs.232819			Pediatric research. 2004 Jun;55(6):995-1000	The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.		605514	18851	2	2004	The carrier rate of the R245X mutation among the normal hearing Ashkenazi population in Israel was estimated at 1%. Ashkenazi Jewish children with profound prelingual hearing loss should be evaluated for the R245X PCDH15 mutation and undergo ophthalmologic evaluation to determine whether they will develop RP. Rehabilitation can then begin before loss of vision. Early use of cochlear implants in such cases may rescue these individuals from a dual neurosensory deficit.	Cohort Ashkenazi Jews in Israel Cohort probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10 										
132618	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q25	PLA2G4A	185064654	185224736		Peet M et al. 1998	9800222				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1		India	KGB	5321	Hs.497200			Psychiatric genetics. 1998 ;8(3):191-2	Association of the Ban I dimorphic site at the human cytosolic phospholipase A2 gene with schizophrenia.		600522	5003	1	1998	Schizophrenic subjects were found to have a significant excess of the A2/A2 homozygote relative to healthy control subjects											
132747	Y	vascular disease	CARDIOVASCULAR	CARD	Coronary Disease|Vascular Diseases	7	7q21.3	PON1	94764923	94791780		Leviev I et al. 2002	11888532			promoter	Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Atherosclerosis. 2002 Apr;161(2):463-7	High expressor paraoxonase PON1 gene promoter polymorphisms are associated with reduced risk of vascular disease in younger coronary patients.		168820	5037	1	2002	The data are consistent with the high expressor promoter genotype being linked to reduced risk of myocardial infarction. The influence of the genotype may be compromised in older patients.	Cohort the ECTIM2 population										
133185		schizophrenia	PSYCH	PSY	Gerstmann-Straussler-Scheinker Disease|Schizophrenia	20	20pter-p12	PRNP	4614796	4630234		Sasaki K 2003	12682740				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			Acta neuropathologica. 2003 Jul;106(1):92-6	Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Straussler-Scheinker disease.		176640	5140	1	2003												
133217	Y	venous thrombosis	CARDIOVASCULAR	CARD	Thrombophlebitis	2	2q13-q14	PROC	127892486	127903288		Lind B et al. 1993	8400292			splice variant	Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			KGB	5624	Hs.224698			Blood. 1993 Oct;82(8):2423-32	Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.		176860	5147	1	1993												
133329		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Kowalska, A.  et al. 2003	12817569				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1		Poland	CDC GDPinfo	5664	Hs.25363			Journal of applied genetics. 2003 ;44(2):231-4	Molecular genetics of Alzheimer's disease:presenilin 1 gene analysis in a cohort of patients from the Poznan region.		600759	23298	2	2003	The frequency of PS1 mutations was 11% (5 of 55) in the whole sample of the patients with EOAD or 50% (3 of 6) if the analysis was restricted to familial cases with a positive history of dementia in the patient's family.	Cohort 55 patients with familial or sporadic form of early-onset AD Poznan region 										
133828		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	16	16q22	RRAD	65513088	65516920		Yuan X 1999	10024077				Ras-related associated with diabetes	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004165.1	Japanese		Y Wang	6236	Hs.1027			Metabolism:  clinical and experimental. 1999 Feb;48(2):173-5	Analysis of trinucleotide-repeat combination polymorphism at the rad gene in patients with type 2 diabetes mellitus.		179503	5296	1	1999												
141737	Y	amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Amyloidosis	11	11p15.1	SAA1	18244345	18248092		Yamada, T.  et al. 2003	12762135				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2	Japanese		CDC GDPinfo	6288	Hs.632144			Amyloid. 2003 Mar;10(1):11-Jul	An allele of serum amyloid A1 associated with amyloidosis in both Japanese and Caucasians		104750	13528	2	2003	These findings suggest that -13T is a genetic background for AA amyloidosis in both Japanese and Caucasians and the difference in prevalence of AA amyloidosis in the two ethnic groups may be due, at least in part, to a difference in the frequency of the -13T SAA1 allele.	Control Caucasian controls and Japanese rheumatoid arthritis patients without AA amyloidosis;Case Japanese rheumatoid arthritis patients with AA amyloidosis and American Caucasian patients with AA:amyloidosis										
134830	Y	anxiety-related temperament and behavior problems	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Jorm AF et al. 2000	11032389				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2000 Sep;5(5):542-7	Association of a functional polymorphism of the serotonin transporter gene with anxiety-related temperament and behavior problems in children: a longitudinal study from infancy to the mid-teens.		182138	5499	1	2000												
135346		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Lin, P.  et al. 2003	12711112				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Taiwan	CDC GDPinfo	6648	Hs.487046			Lung cancer (Amsterdam, Netherlands). 2003 May;40(2):123-9	Analysis of NQO1, GSTP1, and MnSOD genetic polymorphisms on lung cancer risk in Taiwan.		147460	25585	2	2003	These results suggest that NQO1 plays a role in the development of cigarette smoking-associated lung adenocarcinoma. In addition, GSTP1 polymorphism was associated with the risk of squamous cell lung carcinoma in Taiwan.	Case:198 lung cancer casese:Taiwan;Control:332:controls	smoking (tobacco)									
136168	N	affective disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Psychotic Disorders	11	11p15.5	TH	2141734	2149611	n	Kawada Y et al. 1995	7665810				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Journal of affective disorders. 1995 May;34(2):89-94	No evidence of linkage or association between tyrosine hydroxylase gene and affective disorder.		191290	5851	1	1995												
136700		sepsis	INFECTION	INF	Sepsis|Disease Susceptibility|Postoperative Complications	6	6p21.3	TNF	31651328	31654091		Shu, Q.  et al. 2002	12126516				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Zhonghua yi xue za zhi. 2002 Jul;82(13):903-6	[Association of tumor necrosis factor microsatellites TNF with the susceptibility to and outcome of postoperative severe sepsis]		191160	23721	2	2002	 Microsatellite TNFa is significantly associated with both the susceptibility to and outcome of severe sepsis. In contrast, microsatellite TNFb is neither associated with the susceptibility to severe sepsis nor with the outcome of severe sepsis.	Case:122 postoperative patients suffering from severe sepsis;Control:138 ethnically matched heatlhy individuals										
136518		COPD	OTHER	OTH	Lung Diseases, Obstructive|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Sakao S 2001	11179116				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of respiratory and critical care medicine. 2001 Feb;163(2):420-2			191160	5994	1	2001												
136471	Y	celiac	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091	0.001	McManus R 1996	8655356	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Human immunology. 1996 Jan;45(1):24-31			191160	5947	1	1996												
136466	N	Asthma	IMMUNE	IMM	Asthma	6	6p21.3	TNF	31651328	31654091	n	Tan 1999	10371104	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Malaysia|Singapore	KCB	7124	Hs.241570			Allergy. 1999 Apr;54(4):402-3			191160	5942	1	1999												
136460		Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Sullivan KE 1997	9416858	G/A -308 TNF1			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Arthritis and rheumatism. 1997 Dec;40(12):2207-11			191160	5936	1	1997												
136443		Bronchial hyperreactivity	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Li Kam Wa TC 1999	10469028	G/A -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Clinical and experimental allergy. 1999 Sep;29(9):1204-8			191160	5919	1	1999	 We conclude that the -308 TNF2 promoter polymorphism may form a component of the genetic predisposition to BHR in asthma.											
137015		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Tsuchiya N 2000	11197692				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese		Y Wang	7133	Hs.256278			Genes and immunity. 2000 Dec;1(8):501-3	New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus.		191191	6129	1	2000												
137098	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic	1	1q32	TNNT2	199594764	199613428		An, F. S.  et al. 2004	15387941				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2	Chinese		CDC GDPinfo	7139	Hs.533613			Zhonghua yi xue za zhi. 2004 Aug;84(16):1340-3	[A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy]		191045	19948	2	2004	 A novel missense mutation of troponin T gene has been identified. Mutation in tail part of cardiac troponin T, essential for it's binding function, causes the disease of HCM. Correlative analysis confirms the genetic heterogeneity of the disease.	Control:100 normal persons, aged 44 +/- 14;Case:71 unrelated Chinese probands with hypertrophic cardiomyopathy, aged 40 +/- 18										
137241	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Qie, M.  et al. 2002	12575207	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Hua xi yi ke da xue xue bao. 2002 Apr;33(2):274-5	[Study on the relationship between cervical cancer and p53 codon 72 polymorphism]		191170	14440	2	2002	 In this population, individuals homozygous for the arginine variant of codon 72 of the p53 gene were at increased risk of cervical cancer.	Case:15/15 women with ovarian cancer (n=15) and cervical:cancer (n=15);Control:20 normal women										
137262	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Hiraki, A.  et al. 2003	12875622				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Asian Pacific journal of cancer prevention. 2003 Apr-Jun;4(2):107-12	Different risk relations with smoking for non-small-cell lung cancer: comparison of TP53 andTP73 genotypes.		191170	19966	2	2003	 A risk relation of heavy smoking for the NSCLC is suggested with the TP53 but not the TP73 polymorphism.	Case:192 histologically confirmed non-small cell lung cancer:cases;Control:241 non-cancer controls	smoking (tobacco)									
137314		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		De Jong, M. M.  et al. 2002	12433710				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		191170	28511	2	2002	Review article											
137515	Y	autoimmune thyroid disease; thyroid disease, autoimmune	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	14	14q31	TSHR	80491621	80682399		Akamizu, T.  et al. 2000	11081251				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Japanese	Japan	CDC GDPinfo	7253	Hs.160411			Thyroid. 2000 Oct;10(10):851-8	Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients.		603372	23823	2	2000	These results confirm and expand on our previous study suggesting that alleles of the TSHR and CTLA-4 genes, or genes near them contribute to AITD susceptibility and set the stage for future studies of interactions between these genes and AITD.	Control:218 Japanese controls;Case:349 unrelated Japanese autoimmune thyroid disease:patients										
137641		obesity	METABOLIC	MET	Obesity, Morbid|Body Weight	11	11q13	UCP2	73363363	73371537		Evans, D.  et al. 2001	11466580				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			International journal of obesity and related metabolic disorders. 2001 May;25 Suppl 1:S19-21	Association between polymorphisms in candidate genes and morbid obesity.		601693	27664	2	2001	The beta-AR 3 W64R and ucp-1 a-3826g polymorphisms influenced the rate of the development of obesity and may act synergistically.	Cohort 388 morbid obese patients (mean body mass index (BMI) 52+/-8.01) who underwent gastric banding surgery 										
137851		rickets	INFECTION	INF		12	12q12-q14	VDR	46521586	46585081		Xi, W. P.  et al. 2005	16083553				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Zhonghua er ke za zhi Chinese journal of pediatrics. 2005 Jul;43(7):514-6	[Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets]		601769	14734	2	2005	 The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency.											
137889		bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Otsuki, T.  et al. 2004	15375600				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			International journal of molecular medicine. 2004 Oct;14(4):669-76	Effects of genetic and nutritional factors on bone mineral density in young adults		601769	26746	2	2004	These results suggested that a complex array of genetic factors, such as two or more SNPs or SNPs and gender, may be important to BMD.	Cohort 53 healthy volunteers 										
137902		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Brett, P. M.  et al. 2005	16304445				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Journal of dental research. 2005 Dec;84(12):1149-53	Functional Gene Polymorphisms in Aggressive and Chronic Periodontitis.		601769	27343	2	2005												
138060	Y	coronary artery disease; stroke	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis|Werner Syndrome	8	8p12-p11.2	WRN	31010319	31150818		Castro, E.  et al. 2000	11186893				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2		Mexico|Finland	CDC GDPinfo	7486	Hs.632050			American journal of medical genetics. 2000 Dec;95(4):374-80	Polymorphisms at the Werner locus: II. 1074Leu/Phe,1367Cys/Arg, longevity, and atherosclerosis.		604611	14785	2	2000	These data support the hypothesis that WRN may mediate not only WS, but may also modulate more common age-related disorders and, perhaps, a basic aging process.	Case Mexican patients with ischemic stroke;Control control group of Mexican adults:Cohort Finnish and Mexican population sample										
124894	Y	ovalocytosis and malaria susceptibility	INFECTION	INF		2	2q14-q21	GYPC	127130153	127170716		Patel SS et al. 2001	11719395			3'untranslated	glycophorin C (Gerbich blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR609866	Wosera, Papua New Guinea (Melanesians)		KGB	2995	Hs.59138	ovalocytosis		Blood. 2001 Dec;98(12):3489-91	The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera Papua New Guinea.		110750	3044	1	2001		Case:homozygous wild type; heterozygotes; homozygotes for exon 3 deletion; Control:north americans										
142751		severe elliptopoikilocytosis	HEMATOLOGICAL	HEM				spectrin				Baklouti F et al. 1991	2043465	alpha I 22 Arg----His (CGT----CAT)							KGB					British journal of haematology. 1991 May;78(1):108-13	Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis.			8139	1	1991												
114501	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Camelo, D.  et al. 2004	14759632				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Colombian	Colombia	CDC GDPinfo	2	Hs.212838			Journal of the neurological sciences. 2004 Mar;218(2-Jan):47-51	Angiotensin-converting enzyme and alpha-2-macroglobulin gene polymorphisms are not associated with Alzheimer's disease in Colombian patients.		103950	8338	2	2004	Using logistic regression and multiple correlation analysis (MCA), we confirmed that the main risk factor associated and consistently grouped with AD patients in this population is APOE4, but this association was not observed with alleles and genotypes of ACE and A2M.	Control:69 nromal controls;Case:83 Alzheimer's disease patients:Colombia										
142567	Y	schizophrenia	PSYCH	PSY	Autoimmune Diseases|Diabetes Mellitus, Type 1|Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Nimgaonkar VL et al. 1993	8435383	DQB1*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Schizophrenia research. 1993 Jan;8(3):199-209	A negative association of schizophrenia with an allele of the HLA DQB1 gene among African-Americans.		604305	7932	1	1993												
142757		sulfonylurea or insulin treatment	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Zychma MJ et al. 2002	12118200				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2		Poland	KGB	6833	Hs.54470			Medical science monitor. 2002 Jul;8(7):CR512-5	Sulfonylurea receptor gene 16-3 polymorphism - association with sulfonylurea or insulin treatment in type 2 diabetic subjects.		600509	8146	1	2002	 Our study provides evidence against a major impact of the SUR1 c16-3t polymorphism on the long-term effectiveness of therapy with sulfonylurea derivatives in type 2 diabetic patients.		sulfonylurea									
123702	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	4	4p12	GABRB1	46728335	47123202		Gambardella, A.  et al. 2003	12601092	(G1465A)			Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			CDC GDPinfo	2560	Hs.27283			Neurology. 2003 Feb;60(4):560-3	GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.		137190	10781	2	2003	 The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.	Case:141 patients (78 women and 63 men; mean age = 49.1 +/- 18.0 years) with nonlesional temporal lobe epilepsy;Control:372 age- and sex-matched normal individuals										
143041	Y	Cardiovascular	CARDIOVASCULAR	CARD		22	22q12-q13.1	PPARA	44925162	45018317	0.006	Doney AS, et al 2005	16309557	Leu162Val C2528G		coding sequence	peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	1810 type 2 diabetics from Dundee		CNAP	5465	Hs.103110	myocardial infarction		Nuclear receptor [electronic resource]. 2005 Nov;3:4	ssociation of common variation in the PPARA gene with incident myocardial infarction in individuals with type 2 diabetes: A Go-DARTS study.	rs1800206,	170998			2005		longitudinal study										
129661	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Vascular Diseases|Diabetes Mellitus, Type 2	15	15q21-q23	LIPC	56511466	56648364	0.0009	Baum, L.  et al. 2005	15983323			5'promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Chinese		CDC GDPinfo	3990	Hs.188630			Diabetes care. 2005 Jul;28(7):1704-9	Effect of hepatic lipase -514C->T polymorphism and its interactions with apolipoprotein C3 -482C->T and apolipoprotein E exon 4 polymorphisms on the risk of nephropathy in chinese type 2 diabetic patients.	rs1800588	151670	25184	2	2005	 HL T+ genotypes might increase the risk of developing diabetic nephropathy by slowing clearance of triglyceride-rich remnant lipoproteins. In concert with other risk factors (e.g., hyperglycemia), lipid abnormalities may damage the kidneys and endothelium, where reduced binding sites for lipases may precipitate a vicious cycle of dyslipidemia, proteinuria, and nephropathy.			LIPC (Hepatic Lipase)	-514 C>T	APOC3	-482 C>T	APOE	&#949;2/&#949;3/&#949;4			
143061	Y	dementia	NEUROLOGICAL	NEUR	Cerebrovascular Disorders|Cerebrovascular Accident|Dementia, Vascular	19	19q13.2	APOE	50100878	50104490	0.036	Dement Geriatr Cogn Disord. 2006;22:301-5	16926537			coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		Larry Baum	348	Hs.515465	vascular dementia		Dementia and geriatric cognitive disorders. 2006 ;22(4):301-5	Apolipoprotein E epsilon 4 allele is associated with vascular dementia		107741			2006	VaD patients were more likely than controls to have apoE epsilon 3/ epsilon 4 or epsilon 4/ epsilon 4 genotypes: 23.6% vs. 15.1%, odds ratio=1.7, p=0.036.	144 cases, 251 controls									The association of epsilon 3/ epsilon 4 or epsilon 4/ epsilon 4 genotypes with VaD was strong among people with hypertension (odds ratio=2.9, p=0.007) or diabetes (odds ratio=6.5, p=0.011).	
143062	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction	19	19q13.2	APOE	50100878	50104490	0.008	Clin Chem Lab Med 44:274-81	16519597	ApoE epsilon 2 and  epsilon 4 homozygotes		coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	Hong Kong	Larry Baum	348	Hs.515465			Clinical chemistry and laboratory medicine. 2006 ;44(3):274-81	Associations of apolipoprotein E exon 4 and LPL S447X polymorphisms with acute ischemic stroke and myocardial infarction		107741				 This is the first report of an association of vascular disease with an interaction of APOE exon 4 and LPL S447X genotypes. Therefore, APOE genotypes and LPL S447X interactions with apoE, sex, and smoking may affect the risk of myocardial infarction and ischemic stroke.											
143064	Y	stroke, myocardial infarction	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction	8	8p22	LPL	19841057	19869049	0.01	Baum L, et al Clin Chem Lab Med. 2006;44(3):274-81	16519597	LPL 447X		coding sequence	Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese	Hong Kong	Larry Baum	4023	Hs.180878			Clinical chemistry and laboratory medicine. 2006 ;44(3):274-81	Associations of apolipoprotein E exon 4 and lipoprotein lipase S447X polymorphisms with acute ischemic stroke and myocardial infarction		609708			2006	 This is the first report of an association of vascular disease with an interaction of APOE exon 4 and LPL S447X genotypes. Therefore, APOE genotypes and LPL S447X interactions with apoE, sex, and smoking may affect the risk of myocardial infarction and ischemic stroke.	Subgroup without APOE epsilon 3/3: 154 cases, 104 controls										
143066	Y	ANCA positive patients	IMMUNE	IMM	Leprosy|Malaria|Vasculitis|Autoimmune Diseases	6	6p21.3	HLA-A	29963507	30085130	0.0001	shankarkumar, U. et al. 2005	15848045			coding sequence		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Western India	India	Dr.U.Shankarkumar	3105	Hs.181244	A1, B17, B40	A*0101-B*5801 haplotype	Journal of autoimmunity. 2005 May;24(3):227-33	Immunogenetic association in patients with antineutrophil cytoplasmic antibodies (ANCA) from MUmbai, Maharashtra, India		142800			2005		First report on ANCA and HLA allele association. SIgnificant assocition of A*0101-B*5801 haplotype in India										
143067	Y	Multiple sclerosis	NEUROLOGICAL	NEUR	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	0.002	Kankonkar S, et al. 2003	12651075			coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	India		Dr.U.Shankarkumar	3123	Hs.534322	A11, B16, Cw7, DRB1*15		Human immunology. 2003 Apr;64(4):478-82	Evidence for novel DRB1*15 allele associations among clinically definite multiple sclerosis patients from Mumbai, India		142857			2003		Novel HLA DRB1*15 subtypes DRB1*1506 and DRB1*1508 identified among MS patients for the first time in India										
143081	Y	AIDS	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914	0.003,0.009,<0.00001	Shankarkumar U,et al. 2003	14501803	Novel allele Cw*1507 reported in HIV-1 infection for the first time in the world.		coding sequence		http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian	India	Dr.U.Shankarkumar	3106	Hs.77961	B*3520,B*1801, Cw*1507		Journal of acquired immune deficiency syndromes (1999). 2003 Sep;34(1):113-4	Association of HLA B*3520,B*1801and Cw*1507 with HIV-1 infection in Maharashtra, India		142830			2003		First report of HLA assocition in AIDS patients from India										
143082	Y	Leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613	< 0.000001	Shankarkumar U. 2004	15072129	haplotype A*11-B*40 significantly associted in Lepromatous leprosy patients		coding sequence			India	India	Dr.U.Shankarkumar			A*0206, A*1102, B*5110, Cw*0703, Cw*0407	A*1102-B*4006-Cw*1502 haplotype	Leprosy review. 2004 Mar;75(1):79-85	HLA assocition in leprosy patients from Mumbai. India					2004		Molecular definition of class I alleles among Indian leprosy patients fro the first time.										
143101	Y	Obesity and insulin response	METABOLIC	MET	Obesity|Birth Weight	11	11p15.5	IGF2	2106922	2127409		Eur J Hum Genet. 2006 Jan;14(1):109-16	16251897	IGF2-INS-TH(*)5			insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR592114	UK			3481	Hs.523414			European journal of human genetics. 2006 Jan;14(1):109-16	Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes.		147470			2006	 No association between *5 and these traits was found in women. Our results, taken together with other data on IGFII levels and TH activity, point to the importance of *5 as an integrated polygenic haplotype relevant to obesity and insulin response to glucose in men.											
143103	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440	0.003	Florez, J.C. et al. 2004	15111507			coding sequence	Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			Jose C. Florez	3767	Hs.248141			Diabetes. 2004 May;53(5):1360-8	Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region		600937			2004												
143104	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q23-q25	IDE	94204018	94323813		Florez, J.C. et al. 2006	16380485				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			Jose C. Florez	3416	Hs.500546			Diabetes. 2006 Jan;55(1):128-35	High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people		146680			2006	We conclude that  common genetic variation at IDE is unlikely to confer clinically significant risk of type 2 diabetes in Caucasians.											
143105	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21.1	PRKAB2	145093308	145110753		Sun, M.W. et al. 2006	16505254				Protein kinase, AMP-activated, beta 2 non-catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005399.3			Jose C. Florez	5565	Hs.50732			Diabetes. 2006 Mar;55(3):849-55	Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes		602741			2006	Analysis of single-marker and multi-marker tests revealed no association with type 2 diabetes, fasting plasma glucose, or insulin sensitivity.	4,206 individuals										
143106	Y	diabetes, type 2	METABOLIC	MET	Glucose Metabolism Disorders|Diabetes Mellitus, Type 2|Insulin Resistance|Disease Progression	10	10q25.3	TCF7L2	114700200	114916060	0.001	Florez, J.C. et al. 2006	16855264	114801894			transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			Jose C. Florez	6934	Hs.588935			The New England journal of medicine. 2006 Jul;355(3):241-50	TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program		602228			2006	 Common variants in TCF7L2 seem to be associated with an increased risk of diabetes among persons with impaired glucose tolerance. The risk-conferring genotypes in TCF7L2 are associated with impaired beta-cell function but not with insulin resistance. (ClinicalTrials.gov number, NCT00004992. [ClinicalTrials.gov]).											
143107	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	10	10q25.3	TCF7L2	114700200	114916060	10^ -20	Saxena, R. et al. 2006	17003358				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			Jose C. Florez	6934	Hs.588935			Diabetes. 2006 Oct;55(10):2890-5	Common Single Nucleotide Polymorphisms in TCF7L2 Are Reproducibly Associated With Type 2 Diabetes and Reduce the Insulin Response to Glucose in Nondiabetic Individuals	rs7903146T	602228			2006	These results suggest that TCF7L2 variants may act through insulin secretion to increase the risk of type 2 diabetes.											
130416		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Medlej-Hashim M et al., 2005	16378925				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Lebanese and Jordanian		CDC GDPinfo	4210	Hs.632221			European journal of medical genetics. 2005 Oct-Dec;48(4):412-20	Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report ofthree novel mutations		608107	18247	2	2005	The phenotypic heterogeneity of FMF could originate both from genetic causes like allelic heterogeneity or modulating genes and cultural background facing the physiological consequences of genotypes at risk.	Investigation of the MEFV gene in a cohort of 558 Lebanese and 55 Jordanian FMF patients, followed by a population genetics study.										
143121	Y	coal workers' pneumoconiosis (CWP)	OTHER	OTH	Pneumoconiosis	6	6p21.3	TNF	31651328	31654091		Nadif, R. et al. 2003	12566517				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Coal miners	France		7124	Hs.241570			Journal of medical genetics. 2003 Feb;40(2):96-103	Effect of TNF and LTA polymorphisms on biological markers of response to oxidative stimuli in coal miners: a model of gene-environment interaction. Tumour necrosis factor and lymphotoxin alpha.		191160			2003	 The results suggest that interactions of genetic background with environmental exposure and intermediate response phenotypes are important components in the pathogenesis of CWP.		coal mine dust	TNF	-308	LTA	NcoI polymorphism				Y	
143163	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	1	1p13.3-p13.1	PTPN22	114157960	114215857	p = 2.1 x 10(-8)	Diabetologia. 2006 Jun;49(6):1198-208. Epub Apr 06	16614815	C1858T   (LYP) Arg620Trp		coding sequence	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Finnish		KGB	26191	Hs.535276			Diabetologia. 2006 Jun;49(6):1198-208	Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and progression to type 1 diabetes	rs2476601	600716			2006	In the pathogenesis of type 1 diabetes the underlying mechanism of the PTPN22 C1858T polymorphism appears to involve regulation of insulin-specific autoimmunity. Importantly, it strongly affects progression from prediabetes to clinical disease.	546 patients, 538 controls, 245 nuclear families										
143181	Y	Wilms tumors	CANCER	CAN	Wilms Tumor|Chromosome Deletion|Genetic Predisposition to Disease|	7	7p14.1	POU6F2	39012932	39470915		Perotti Daniela et al.	15459955				POU domain, class 6, transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_007252			NS	11281	Hs.137106			Human mutation. 2004 Nov;24(5):400-7	Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14		609062				 Together with the finding of the expression of the POU6F2 mouse homolog in both fetal and adult kidney, our observations suggest that the gene is a tumor suppressor and is involved in hereditary predisposition to WT.											
143201	Y	Alzheimer's Disease and Vascular Dementia	AGING	AGE	Dementia|Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Neurobiol Aging. 2006 Feb;27(2):211-7	16226351	IL-1beta (-511) T/T			interleukin-1 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese-American males		NS	3553	Hs.126256			Neurobiology of aging. 2006 Feb;27(2):211-7	Association of interleukin-1 gene polymorphisms with dementia in a community-based sample: the Honolulu-Asia Aging Study.		147720				Our results support the hypothesis that certain genetic variations contained within the IL-1 gene family contribute to the pathogenesis of dementia.	931 males										
138720	Y	insulin	METABOLIC	MET	Insulin Resistance	12	12q24.31	SCARB1	123828128	123914287		Perez-Martinez, P.  et al. 2005	15671101				scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDPinfo	949	Hs.298813			The Journal of clinical endocrinology and metabolism. 2005 Apr;90(4):2297-300	A polymorphism exon 1 variant at the locus of the scavenger receptor class B type I (SCARB1) gene is associated with differences in insulin sensitivity in healthy people during the consumption of an olive oil-rich diet.		601040	9409	2	2005	 Our findings show that carriers of the G/A genotype have significant increases in insulin sensitivity after a MUFA-rich diet compared with G/G individuals.	Cohort 59 healthy volunteers (30 men and 29 women) 	diet									
139703	N	Asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559	n	Horne 2000	10853858	DRB1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			The European respiratory journal. 2000 May;15(5):911-4			142857	7078	1	2000												
121091	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714	n	Wang J et al. 2000	11104220				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Chinese	China	KGB	1571	Hs.12907			Movement disorders. 2000 Nov;15(6):1267-9	Lack of association between cytochrome P450 2E1 gene polymorphisms and Parkinson's disease in a Chinese population.		124040	1662	1	2000												
140800	N	dementia	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Zekanowski, C.  et al. 2003	12826737				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Polish	Poland	CDC GDPinfo	4137	Hs.101174			Dementia and geriatric cognitive disorders. 2003 ;16(3):126-31	Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia.		157140	18146	2	2003	No pathogenic mutations were found in the group. Several novel silent intronic and exonic mutations were identified, most of them associated with two common haplotypes. In the reported group no correlation between extended MAPT haplotype and APOE genotype was determined. There was also no observed relation between age of onset and APOE status. At the STH gene only a common polymorphic change was found. It is postulated that MAPT mutations are not connected with most of the FTD cases in the Polish population.	Cohort 23 unrelated Polish patients with clinically defined sporadic and familial frontotemporal dementia 										
123298	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Carotid Artery Diseases|Arteriosclerosis	4	4q28	FGB	155703595	155711688		Schmidt H et al. 1998	9514419				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			KGB	2244	Hs.300774			Arteriosclerosis, thrombosis, and vascular biology. 1998 Mar;18(3):487-92	Beta-fibrinogen gene polymorphism (C148-->T) is associated with carotid atherosclerosis: results of the Austrian Stroke Prevention Study.		134830	2665	1	1998												
116088	Y	angiotensinogen concentrations	METABOLIC	MET		1	1q42-q43	AGT	228904891	228916564		Morgan L et al. 2000	10826557	A(-20)C in the 5' flanking region of the angiotensinogen gene		promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	healthy pregnant women		KGB	183	Hs.19383			Journal of hypertension. 2000 May;18(5):553-7	Polymorphism in oestrogen response element associated with variation in plasma angiotensinogen concentrations in healthy pregnant women.		106150	374	1	2000												
122579	Y	bone density	METABOLIC	MET		11	11q13	ESRRA	63829619	63840786	0.003	Laflamme, N.  et al. 2005	15883633		increases expression	5'promoter	Estrogen-related receptor alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004451.3	French-Canadian		CDC GDPinfo	2101	Hs.110849	increases lumbar spine bone density		Journal of bone and mineral research. 2005 Jun;20(6):938-44	A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women.	3217060	601998	16558	2	2005	 These results support the genetic influence of this ESRRA regulatory variant on BMD.	Cohort 690 premenopausal women 										
117497		infertility	REPRODUCTION	REP	Infertility, Male	X	Xq11.2-q12	AR	66680598	66860844		Trikalinos TA et al. 2001	11545285	CAG trinucleotide repeats			Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			Journal of andrology. 2001 Sep-Oct;22(5):748; discussion 749	Expansion of the CAG trinucleotide repeats in the androgen receptor gene and male infertility: a controversial association.		313700	883	1	2001												
140712		Insulin Resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	1	1p31	LEPR	65658905	65875410		de Silva AM 1999	10490782	Gln223Arg OB-R. Arg/Arg. pro/pro. and II/II polymorphisms			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Nauran	Micronesia	TJB	3953	Hs.23581			International journal of obesity and related metabolic disorders. 1999 Aug;23(8):816-22			601007	7274	1	1999	 Pacific Island populations exhibit a remarkably high prevalence rate of obesity and type 2 diabetes and represent a unique population for genetic studies of obesity. In the present study we have revealed that a specific combination of alleles in OB and OB-R, two candidate genes for obesity, may confer an increased risk for the development of insulin resistance in Nauruan males.											
126497	Y	obesity	METABOLIC	MET	Obesity	6	6p21.3	HSPA1B	31903502	31906010		Chouchane L et al. 2001	11319647				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			KGB	3304	Hs.274402			International journal of obesity and related metabolic disorders. 2001 Apr;25(4):462-6	Genetic variation in the stress protein hsp70-2 gene is highly associated with obesity.		603012	3222	1	2001	 Tunisian persons carrying the P2/P2 genotype of the hsp70-2 gene may have an increased risk of obesity.											
119045	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis	12	12p13.1-p12	CDKN1B	12761575	12766570		Schondorf, T.  et al. 2004	15627896				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDPinfo	1027	Hs.238990			Tumour biology. 2004 Sep-Dec;25(6-May):306-12	The V109G polymorphism of the p27 gene CDKN1B indicates a worse outcome in node-negative breast cancer patients.		600778	9354	2	2004	In conclusion, the determination of the CDKN1B genotype might be a powerful tool for the prognosis of patients with early breast cancer.	Cohort 279 patients with infiltrating metastasis-free breast cancer 										
115829	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Svetkey LP et al. 1996	8641726				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Hypertension. 1996 Jun;27(6):1210-5	Association of hypertension with beta2- and alpha2c10-adrenergic receptor genotype.		109690	221	1	1996												
117494	Y	obesity	AGING	AGE	Obesity	X	Xq11.2-q12	AR	66680598	66860844		Gustafson DR 2003	12532157	GGN and CAG allele		coding sequence	Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	older Causcasian adults		KEW	367	Hs.496240	obesity in older adults		International journal of obesity and related metabolic disorders. 2003 Jan;27(1):75-81			313700	880	1	2003	 AR GGN and CAG allele combinations are strongly associated with central obesity indices in older adults, particularly in women.											
139695	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11069565	DRB1*8			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11):1568-75			142857	7070	1	2001	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
136182	N	affective disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	11	11p15.5	TH	2141734	2149611	n	Korner J et al. 1990	1975102				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatry research. 1990 Jun;32(3):275-80	RFLP alleles at the tyrosine hydroxylase locus: no association found to affective disorders.		191290	5865	1	1990												
140364		Bone Mineralization	METABOLIC	MET	Osteoporosis	7	7p21	IL6	22733322	22738141		Duncan E.L. 1999	10620056	microsatellite markers	weak linkage to bone mineral density		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of bone and mineral research. 1999 Dec;14(12):1993-9			147620	7206	1	1999												
127375	Y	herpes zoster	OTHER	OTH	Herpes Zoster|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Haanpaa M et al. 2002	11928840				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Scandinavian journal of infectious diseases. 2002 ;34(2):112-4	Polymorphism of the IL-10 gene is associated with susceptibility to herpes zoster.		124092	3825	1	2002												
128639		esophageal cancer; stomach cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease|Inflammation	2	2q35	IL8RA	218735812	218739961		Savage, S. A.  et al. 2004	15598788				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2		China	CDC GDPinfo	3577	Hs.194778			Cancer epidemiology, biomarkers & prevention. 2004 Dec;13(12):2251-7	Variants of the IL8 and IL8RB genes and risk for gastric cardia adenocarcinoma and esophageal squamous cell carcinoma.		146929	22615	2	2004	We conclude that  variation in IL8 seems to increase the risk for GCC but not ESCC in this high-risk population. These variants could confer an altered IL8 expression pattern or interact with environmental factors to increase the risk for inflammation and GCC.	Cohort subjects from the Nutrition Intervention Trials ;Case incident gastric cardia adenocarcinoma (n = 90) and esophageal squamous cell carcinoma (n = 131) cases:Linxian, China										
119952	N	FAP phenotype	OTHER	OTH	Adenomatous Polyposis Coli	3	3p21	CTNNB1	41216015	41256938	n	Dobbie Z et al. 1999	10424823				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			KGB	1499	Hs.476018			Journal of medical genetics. 1999 Jul;36(7):573-4	Germline mutations in the beta-catenin gene are not associated with the FAP phenotype without an APC mutation.		116806	1537	1	1999												
116926	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	2	2p24-p23	APOB	21077805	21120450		Guzman EC et al. 2000	11071065				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2		Brazil	KGB	338	Hs.120759			Clinical chemistry and laboratory medicine. 2000 Aug;38(8):731-6	Association of the apolipoprotein B gene polymorphisms with cholesterol levels and response to fluvastatin in Brazilian individuals with high risk for coronary heart disease.		107730	621	1	2000												
116924		plasma glucose levels	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p24-p23	APOB	21077805	21120450		Boerwinkle E et al. 1991	1936612				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Diabetes. 1991 Nov;40(11):1539-44	Signal peptide-length variation in human apolipoprotein B gene. Molecular characteristics and association with plasma glucose levels.		107730	619	1	1991												
132739	Y	fasting total cholesterol and LDL-cholesterol concentrations only	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Senti M et al. 2002	12241013				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			KGB	5444	Hs.370995			Clinical chemistry and laboratory medicine. 2002 Jul;40(7):677-83	The paraoxonase-1 codon 192 polymorphism is associated with fasting total cholesterol and LDL-cholesterol concentrations only in postmenopausal women. The REGICOR study.		168820	5029	1	2002	The findings suggest a gender-specific lipoprotein-genotype association with PON1 codon 192 genotypes in this study sample.	Cohort 1380 subjects (724 mean and 656 women)										
138490		radiation-induced ocular telangiectasia	OTHER	OTH	Ataxia Telangiectasia|Retinal Diseases|Macular Degeneration|Choroid Diseases|Radiation Injuries	11	11q22-q23	ATM	107598768	107745036		Mauget-Faysse M 2003	12882767				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			KGB	472	Hs.435561			Investigative ophthalmology & visual science. 2003 Aug;44(8):3257-62	Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene.		607585	7412	1	2003	 ATM missense variants could confer an AT-like phenotype and influence the formation of retinal and choroidal vascular abnormalities.											
116875		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease	11	11q23	APOA5	116165295	116167794		Lai, C. Q.  et al. 2004	15342688				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Journal of lipid research. 2004 Nov;45(11):2096-105	Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study.		606368	15235	2	2004	In women, the -1131C allele was associated with a	Cohort 1,129/1,262 men (n=1129) and women (n=1262) participating in the Framingham Heart Study 										
140822	Y	juvenile idiopathic arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Donn R et al. 2002	12355488				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			KGB	4282	Hs.407995			Arthritis and rheumatism. 2002 Sep;46(9):2402-9	Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis.		153620	7313	1	2002	 The -173-MIF*C allele confers increased risk of susceptibility to JIA. Our data suggest a cell type-specific regulation of MIF, which may be central to understanding its role in inflammation.	Case:88 UK Caucasian juvenile idiopathic arthritis patients;Control:92 healthy UK Caucasian controls										
141402	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Lustberg, M. E.  et al. 2004	15213521				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDPinfo	4846	Hs.511603			Journal of occupational and environmental medicine. 2004 Jun;46(6):584-90	The G(894)-T(894) polymorphism in the gene for endothelial nitric oxide synthase and blood pressure in lead-exposed workers from Korea.		163729	12837	2	2004	These data provide no evidence that the T allele is associated with higher blood pressure or modifies the association of lead dose with blood pressure.	Cohort 803 lead workers Korea 	lead									
133121		insulin sensitivity	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance|	7	7q31.1	PPP1R3	113301621	113346300		Hansen L et al. 2000	10868947				protein phosphatase 1, regulatory (inhibitor) subunit 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002711			KGB	5506	Hs.458309			Diabetes. 2000 Feb;49(2):298-301	Polymorphism in the glycogen-associated regulatory subunit of type 1 protein phosphatase (PPP1R3) gene and insulin sensitivity.		600917	5118	1	2000												
126637	Y	eating disorders	PSYCH	PSY	Eating Disorders|Borderline Personality Disorder	13	13q14-q21	HTR2A	46305513	46368995		Nishiguchi N et al. 2001	11526993			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese		KGB	3356	Hs.72630			Biological psychiatry. 2001 Jul;50(2):123-8	Association between 5HT2A receptor gene promoter region polymorphism and eating disorders in Japanese patients.		182135	3262	1	2001	 Though preliminary, these results can be interpreted as suggesting that the G allele of the 5HT2A receptor gene -1438A/G polymorphism may be associated with pathological features that EDs and BPD have in common, especially disinhibition in eating behavior and personality trait.	Case:182 eating disorder patients:Japan;Control:374 normal control subjects										
119591		obesity; cortisol	METABOLIC	MET	Obesity	8	8q13	CRH	67251172	67253252		Rosmond, R.  et al. 2001	11555839				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1		Sweden	CDC GDPinfo	1392	Hs.75294			Metabolism:  clinical and experimental. 2001 Sep;50(9):1059-62	A polymorphism in the regulatory region of the corticotropin-releasing hormone gene in relation to cortisol secretion, obesity, and gene-gene interaction.		122560	9495	2	2001	We conclude that  an abnormal production rate of the CRH gene product in the presence of an inadequate glucocorticoid receptor density might lead to elevated cortisol levels.	Cohort 284 middle-aged men Sweden 	stress									
134628		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Yasuda K 1994	7983799				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Japanese		Y Wang	6514	Hs.167584			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2693-6	Candidate gene approach in Japanese NIDDM: liver/pancreatic beta cell type glucose transporter (GLUT2)		138160	5414	1	1994												
133027	Y	insulin sensitivity and body composition	NORMALVARIATION	NV	Insulin Resistance	3	3p25	PPARG	12304348	12450855		Damcott CM 2004	15015141	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Hispanic and non-Hispanic white males	United States	KGB	5468	Hs.162646			Metabolism:  clinical and experimental. 2004 Mar;53(3):303-9	Genetic variation in fatty acid-binding protein-4 and peroxisome proliferator-activated receptor gamma interactively influence insulin sensitivity and body composition in males.		601487	5103	1	2004	These findings provide evidence that FABP4 and PPARgamma work together to influence a biologic pathway affecting insulin sensitivity and body composition, illustrating the importance of investigating the joint effect of genes in determining susceptibility for complex disease.	Cohort 314 Hispanic and non-Hispanic white makes participating in the San Luis Valley Diabetes Study										
134223		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	7	7q21.3-q22	PAI1	100561579	100569251		Buc D 2002	11972486	4G/5G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164		Czech Republic	KCB	5054	Hs.414795			Allergy. 2002 May;57(5):446-8			173360	4873	1	2002	 Our findings support the idea that the 4G allele of the 4G/5G polymorphism in the PAI-1 gene may be a risk factor for IgE-mediated asthma and allergic diseases.											
136489	Y	recurrent pregnancy loss	OTHER	OTH	Abortion, Habitual	6	6p21.3	TNF	31651328	31654091	0.18	Daher S 2003	12609526				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Brazil	KEW	7124	Hs.241570			Journal of reproductive immunology. 2003 Feb;58(1):69-77	Associations between cytokine gene polymorphisms and recurrent pregnancy loss.		191160	5965	1	2003	We believe that the associations of these genotypes with RPL are interesting not only as risk factors but also because they represent another piece of evidence that these cytokines might be important in the pathogenesis of RPL.	encompassing the present results and those from studies on the association of TNF-alpha, IL-10 and IFN-gamma polymorphisms with RPL published in the literature until December 2001 ;Control:108 ethnically matched healthy individuals;Case:48 recurrent pregn										
118003	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	C4B	32057812	32078435		Man, X. Y.  et al. 2003	12480675				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029	Chinese	China	CDC GDPinfo	432395	Hs.534847			Annals of the rheumatic diseases. 2003 Jan;62(1):71-3	Polymerase chain reaction based C4AQ0 and C4BQ0 genotyping: association with systemic lupuserythematosus in southwest Han Chinese.		120820	20634	2	2003	 It is suggested that deficiency of C4A (not due to a 2 bp insertion in exon 29), but not C4B or C2, may be a risk factor for acquiring SLE in south west Han Chinese; this results in increased risk of renal disorder, serositis, and anti-dsDNA antibodies in patients with SLE. Racial differences seem to be relevant in susceptibility to SLE	Case:136 southwest Han Chinese patients with systemic lupus:erythematosus;Control:174 matched controls										
134664		major psychiatric disorders	PSYCH	PSY		16	16q12.2	SLC6A2	54247522	54295201		Stober G et al. 1996	8950409				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			KGB	6530	Hs.78036			American journal of medical genetics. 1996 Nov;67(6):523-32	Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders.		163970	5437	1	1996												
133181	Y	Sporadic Creutzfeldt-Jakob disease	OTHER	OTH	Creutzfeldt-Jakob Syndrome|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Mead S et al. 2001	11704923				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2		Great Britain	KGB	5621	Hs.472010			American journal of human genetics. 2001 Dec;69(6):1225-35	Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.		176640	5136	1	2001												
139026	Y	efficacy and tolerability of simvastatin	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	22	22q13.1	CYP2D6	40852444	40856827		Mulder AB et al. 2001	11753271				cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1565	Hs.333497			Clinical pharmacology and therapeutics. 2001 Dec;70(6):546-51	Association of polymorphism in the cytochrome CYP2D6 and the efficacy and tolerability of simvastatin.		124030	1621	1	2001	 Our data provide evidence that the cholesterol-lowering effect of simvastatin is influenced by CYP2D6 polymorphism. The clinical use of this knowledge may allow for more efficient individual therapies.	Cohort 88 patients with hypercholesterolemia										
122770	Y	high frequency of factor V Leiden mutation.	OTHER	OTH	Abortion, Habitual	1	1q23	F5	167747815	167822393		Wramsby ML et al. 2000	11056246				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Fertility and sterility. 2000 Nov;74(5):987-91	Primary habitual abortions are associated with high frequency of factor V Leiden mutation.		227400	2486	1	2000												
117456		lipoprotein	METABOLIC	MET		17	17q23-qter	APOH	61638612	61655992		Singh, P. P.  et al. 2002	12495081				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1	Indian		CDC GDPinfo	350	Hs.445358			Human biology; an international record of research. 2002 Oct;74(5):673-82	Genetic variation of apolipoproteins in North Indians.		138700	24078	2	2002	Overall, this study highlights the usefulness of apolipoproteins as genetic markers for clinical, population, and anthropological studies.	Cohort nine endogamous populations of Punjab, North India Punjab, North India 										
122893	Y	Low plasma levels of factor VIIc	OTHER	OTH		13	13q34	F7	112808105	112822996		Humphries S et al. 1996	8743180			promoter	Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			KGB	2155	Hs.36989			Thrombosis and haemostasis. 1996 Apr;75(4):567-72	Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant.		227500	2514	1	1996												
119749	Y	Graves disease	IMMUNE	IMM	Graves Disease	2	2q33	CTLA4	204440753	204446928		Yanagawa T et al. 1995	7829637				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	caucasian		KGB	1493	Hs.247824			The Journal of clinical endocrinology and metabolism. 1995 Jan;80(1):41-5	CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population.		123890	1499	1	1995												
116693	Y	apolipoprotein A-I levels	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Juo SH et al. 1999	10215547			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			American journal of medical genetics. 1999 Jan;82(3):235-41	Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: a meta-analysis.		107680	546	1	1999												
119620		C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Szalai, A. J.  et al. 2005	15778807			promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Journal of molecular medicine (Berlin, Germany). 2005 Jun;83(6):440-7	Single-nucleotide polymorphisms in the C-reactive protein (CRP) gene promoter that affect transcription factor binding, alter transcriptional activity, and associate with differences in baseline serum CRP level.		123260	9511	2	2005	These data confirm that the CRP promoter does encode functional polymorphisms, which should be considered when baseline CRP is being used as an indicator of clinical outcome. Ultimately, development of genetic tests to screen for CRP expression variants could allow categorization of healthy people into groups at high versus low future risk of inflammatory disease.	Cohort 287 ostensibly healthy people 										
117480		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Recurrence, Local	X	Xq11.2-q12	AR	66680598	66860844		Edwards SM et al. 1999	10502720				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			KGB	367	Hs.496240			International journal of cancer. Journal international du cancer. 1999 Oct;84(5):458-65	Androgen receptor polymorphisms: association with prostate cancer risk relapse and overall survival.		313700	866	1	1999												
140326	Y	Insulin sensitivity	METABOLIC	MET	Lipid Metabolism, Inborn Errors|Insulin Resistance	7	7p21	IL6	22733322	22738141		Fernandez-Real J.M. 2000	10720087	-174	associated with glycosylated hemoglobin. insulin levels. white blood cell count. and insulin sensitivity index		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2000 Mar;85(3):1334-9			147620	7168	1	2000												
137762	Y	birth height growth to adolescence and adult stature	NORMALVARIATION	NV		12	12q12-q14	VDR	46521586	46585081		Lorentzon M et al. 2000	10770213				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	caucasian		KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2000 Apr;85(4):1666-70	Vitamin D receptor gene polymorphism is associated with birth height growth to adolescence and adult stature in healthy caucasian men: a cross-sectional and longitudinal study.		601769	6407	1	2000												
131813		hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1q21-q22	NPR1	151917736	151933088		Nakayama T et al. 2000	10785505				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2	Japanese		KGB	4881	Hs.490330			Circulation research. 2000 Apr;86(8):841-5	Functional deletion mutation of the 5'-flanking region of type A human natriuretic peptide receptor gene and its association with essential hypertension and left ventricular hypertrophy in the Japanese.		108960	4772	1	2000												
137472	Y	hypothyroidism	METABOLIC	MET	Hypothyroidism|Genetic Predisposition to Disease	2	2p25	TPO	1396241	1525502		Niu, D. M.  et al. 2005	15613581				Thyroid peroxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000547.3		Taiwan	CDC GDPinfo	7173	Hs.467554			Archives of disease in childhood Fetal and neonatal edition. 2005 Jan;90(1):F69-72	Contribution of genetic factors to neonatal transient hypothyroidism.		606765	20017	2	2005	 The results strongly suggest that the presence of this thyroid peroxidase mutation contributes to the development of NTH. Likely pathogenetic explanations include the effect of the stress of extrauterine adaptation during labour on an immature pituitary-thyroid axis in genetically predisposed individuals, combined with environmental triggers such as iodine deficiency, perinatal iodine exposure, and/or goitrogen contamination.	Control:1,000 normal babies;Case:260 babies with confirmed neonatal transient:hypothyroidism:Taiwan										
135668		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic	6	6p21.3	TAP1	32920963	32929726		Ismail A 1997	9042048	TAP1-A			Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Tunisia	KGB	6890	Hs.352018			The Journal of allergy and clinical immunology. 1997 Feb;99(2):216-23			170260	5693	1	1997	 Tunisian persons carrying the glycine-637 of the TAP1 protein may have an increased risk of atopy. Specific association was found between the homozygous TAP1 D/D genotype and allergic asthma.											
116419	Y	aging	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	17	17p11.1	AKAP10	19749341	19821721	P = 0.009	Kammerer S 2003	12646697	I646V	An in vitro binding assay revealed that the Ile variant bound 3-fold weaker to the protein kinase A (PKA)-RI isoform than the Val variant. This decreased affinity resulted in alterations in the subcellular distribution of the recombinantly expressed PKA-R	coding sequence	A kinase (PRKA) anchor protein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007202.2	European Americans divided into young (18-39 years) and old (>60 years) groups.	United States|Europe	KGB	11216	Hs.642676	decrease in length of EKG PR interval		Proceedings of the National Academy of Sciences of the United States of America. 2003 Apr;100(7):4066-71			604694	6716	1	2003												
128787	N	diabetic pregnancy	METABOLIC	MET	Diabetes, Gestational|Fetal Macrosomia|Pregnancy in Diabetics|Diabetes Mellitus, Type 1	19	19p13.3-p13.2	INSR	7063265	7245011	n	Johnstone FD et al. 1994	8193100				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381	fetal macrosomia		British journal of obstetrics and gynaecology. 1994 Mar;101(3):239-45	Lack of association between maternal phosphoglucomutase-1 phenotype and fetal macrosomia in diabetic pregnancy.		147670	4010	1	1994	 Our study of a larger number of insulin dependent diabetics in Scotland makes the claim that macrosomia in diabetic pregnancy is associated with PGM1 phenotype unlikely to be of general significance.											
116474		Asthma	IMMUNE	IMM	Asthma	12	12q24.2	ALDH2	110688728	110732167		Takao 1998	9600491				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			KCB	217	Hs.632733			The Journal of allergy and clinical immunology. 1998 May;101(5):576-80			100650	465	1	1998	 Alcohol-induced asthma is probably caused by increased blood acetaldehyde concentration resulting from abnormalities of ALDH2 enzyme activity based on ALDH2 genotype differences.											
124339	N	Human Longevity	AGING	AGE		1	1p13.3	GSTM1	110031964	110037890	n	Muiras ML 1998	9654200	GSTM1 gene deletion			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Centenarian		KGB	2944	Hs.301961			Human genetics. 1998 May;102(5):526-32			138350	2971	1	1998												
140349		IL6 transcription	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	7	7p21	IL6	22733322	22738141		Fishman D. 1998	9769329	-174	influence on transcriptional regulation		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		London	KGB	3569	Hs.512234			The Journal of clinical investigation. 1998 Oct;102(7):1369-76			147620	7191	1	1998												
132340	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q41-q42	PARP1	224615128	224662414		Tsao BP et al. 1999	10207165				poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			KGB	142	Hs.177766			The Journal of clinical investigation. 1999 Apr;103(8):1135-40	PARP alleles within the linked chromosomal region are associated with systemic lupus erythematosus.		173870	148	1	1999												
133362	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Disease Susceptibility	9	9q22.3	PTCH	97246218	97310652		Chang-Claude J et al. 2003	12516098	Pro1315Leu (C3944T)			Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2		Germany|Great Britain	KGB	5727	Hs.494538			International journal of cancer. Journal international du cancer. 2003 Mar;103(6):779-83	The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk.		601309	5205	1	2003	Our novel observation of a differential effect of OC use on breast cancer risk by PTCH1 1315Leu-carrier status suggests the interesting possibility of the Sonic hedgehog/Patched (SHH/PTCH1) signaling pathway being involved in hormone-induced development of breast carcinoma.	Control:1057 controls matched by age and study region in Germany for German patients;Case:611/1093 German breast cancer patients diagnosed by age 50 years (n=611) and 1093 breast cancer patients from United Kingdom;Case:611/1093 German breast cancer patie	oral contraceptive									
140362		Bone Mineralization	METABOLIC	MET	Bone Diseases, Metabolic|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Ota N. 1999	10987653	microsatellite markers Linkage	linkage of the IL6 locus to osteopenia		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	KGB	3569	Hs.512234			Human genetics. 1999 Sep;105(3):253-7			147620	7204	1	1999												
118614	N	Asthma	IMMUNE	IMM	Asthma	3	3p21	CCR5	46387429	46392701	n	Unoki M 2000	10830912	G2918T			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		Japan	KCB	1234	Hs.450802			Human genetics. 2000 Apr;106(4):440-6			601373	1305	1	2000												
133691	Y	multiple endocrine neoplasia	CANCER	CAN	Multiple Endocrine Neoplasia Type 2a|Skin Diseases|Lichenoid Eruptions|Amyloidosis	10	10q11.2	RET	42892522	42945803		Hofstra RM et al. 1996	8757765				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			The Journal of investigative dermatology. 1996 Aug;107(2):215-8	RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.		164761	5271	1	1996												
114763	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Reis AF et al. 2000	11030411				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	caucasian	France	KGB	6833	Hs.54470			Human genetics. 2000 Aug;107(2):138-44	Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians.		600509	5684	1	2000												
114469	N	alzheimer`s disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825	n	Blennow K 2000	11041282	5` splice site of exon 18 on the alpha2-macroglobulin (A2M) gene (A2M-2)			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			J Neural Transm. 2000 ;107(9-Aug):1065-79			103950	7008	1	2000												
134092	N	Atopic asthma. BHR. total IgE. SPT	IMMUNE	IMM	Asthma|Hypersensitivity	14	14q32.1	SERPINA1	93914450	93926782	n	Malerba G 2001	11295654	G1237A			Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Italian		KCB	5265	Hs.525557			The Journal of allergy and clinical immunology. 2001 Apr;107(4):654-8			107400	4979	1	2001	 Chromosome 14 screening and transmission disequilibrium testing on the gene encoding ACT suggest that it or a closely located gene may be involved in susceptibility to allergic asthma in the Italian population.											
116604	Y	hereditary spherocytosis	OTHER	OTH		8	8p11.1	ankyrin	41629900	41774297		Gallagher PG et al. 2000	11167760				ankyrin 1, erythrocytic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000037			KGB	286	Hs.491558			British journal of haematology. 2000 Dec;111(4):1190-3	A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.			513	1	2000												
137342	Y	suicidal behavior	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Lalovic A et al. 2002	12116191				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			American journal of medical genetics. 2002 Jul;114(5):533-40	Meta-analysis of the association between tryptophan hydroxylase and suicidal behavior.		191060	8168	1	2002	The combined results from comparisons within both groups showed no overall association between suicidal behavior and an intron 7 polymorphism of the TPH gene.											
139868		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia	6	6p21.3	HLA-DRB1	32593131	32665559		Beskow, A. H.  et al. 2005	15906352				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			International journal of cancer. Journal international du cancer. 2005 Nov;117(3):510-4	HLA class II allele control of HPV load in carcinoma in situ of the cervix uteri.		142857	22116	2	2005	This provides further evidence that the HLA class II-mediated immune response to HPV is important for controlling viral load and outcome of an infection.	Case:484 cervical carcinoma cases;Control:601:controls	human papillomavirus									
136599		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNF	31651328	31654091		Handoko HY 2003	12898567				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Asia-Pacific		KGB	7124	Hs.241570			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Aug;121(1):6-Jan	Tumor necrosis factor haplotype analysis amongst schizophrenia probands from four distinct populations in the Asia-Pacific region.		191160	6075	1	2003												
140336	N	Longevity	AGING	AGE		7	7p21	IL6	22733322	22738141	n	Wang XY 2001	11640949	174			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Finnish		TJB	3569	Hs.512234			Mechanisms of ageing and development. 2001 Dec;123(1):29-38			147620	7178	1	2001		Case:250; Control:400										
118355	Y	panic disorder	PSYCH	PSY	Panic Disorder	4	4p15.1-p15.2	CCKAR	26092115	26101140		Miyasaka, K.  et al. 2004	15108185				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2	Japanese		CDC GDPinfo	886	Hs.129			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):78-80	Association of cholecystokinin-A receptor gene polymorphisms and panic disorder in Japanese.		118444	9038	2	2004	In this study, the first to report the positive association of the CCK-AR polymorphisms and PD, haplotype analyses further strengthened the association based on our comparison of genotype distributions. The CCK-AR gene polymorphism may be involved in the neurobiology of PD.	Case:109 Japanese panic disorder patients;Control:400 age- and gender-matched normal Japanese controls										
133620	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	3	3p24	RARB	25443023	25614424		Feng, J.  et al. 2005	15635645				Retinoic acid receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000965.2			CDC GDPinfo	5915	Hs.536687			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180220	25486	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
123767	N	obesity	METABOLIC	MET	Obesity	18	18q23	GALR1	73090720	73111081		Schauble, N.  et al. 2005	15930442				Galanin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001480.2			CDC GDPinfo	2587	Hs.272191			The Journal of nutrition. 2005 Jun;135(6):1387-92	Human galanin (GAL) and galanin 1 receptor (GALR1) variations are not involved in fat intake and early onset obesity.		600377	21506	2	2005	We conclude that  the analyzed SNPs in GAL and GALR1 do not play a major role in early onset obesity or dietary fat intake in the obese children and adolescents of our study groups.	Control:106 healthy underweight young adults;Case:191 obese children and adolescents										
116107	Y	cardiovascular	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Coronary Thrombosis|Myocardial Infarction	1	1q42-q43	AGT	228904891	228916564		Winkelmann BR et al. 1999	10097233				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			American heart journal. 1999 Apr;137(4 Pt 1):698-705	Angiotensinogen M235T polymorphism is associated with plasma angiotensinogen and cardiovascular disease.		106150	393	1	1999	 The significant relations observed between the AGT M235T variant, its protein product, and the cardiovascular disease phenotypes provide evidence for a possible role of elevated circulating AGT in the pathogenesis of coronary artery disease.											
139686		Asthma. total IgE	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal	6		HLA	29903802	30085613		Blumenthal M 1992	1729361	???			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Caucasian		KCB	3123	Hs.554754			Journal of immunology (Baltimore, Md :  1950). 1992 Jan;148(2):411-6				3160	1	1992												
130427		endocrine pancreatic and neuroendocrine tumors	CANCER	CAN	Neuroendocrine Tumors|Carcinoid Tumor|Adenoma, Islet Cell|Pancreatic Neoplasms	11	11q13	MEN1	64327569	64335342		Gortz B et al. 1999	10027401				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			KGB	4221	Hs.423348			The American journal of pathology. 1999 Feb;154(2):429-36	Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms.		131100	4496	1	1999												
127348		Total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity	1	1q31-q32	IL10	205007570	205012462		Hobbs K 1998	9847292	C-571A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	???		KGB	3586	Hs.193717			American journal of respiratory and critical care medicine. 1998 Dec;158(6):1958-62			124092	3798	1	1998												
116099	Y	carotid intimal-medial thickening	CARDIOVASCULAR	CARD	Carotid Artery Diseases	1	1q42-q43	AGT	228904891	228916564		Chapman CM et al. 2001	11689223				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	community-based		KGB	183	Hs.19383			Atherosclerosis. 2001 Nov;159(1):209-17	Polymorphisms in the angiotensinogen gene are associated with carotid intimal-medial thickening in females from a community-based population.		106150	385	1	2001												
130998	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592	n	Hakonarson H 2001	11739132	Val183Leu. G5296C (Ex 6)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Icelandic	Iceland	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147138	2612	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
131878		childhood asthma.	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		David GL 2003	12969868				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1199-204	Nicotinamide adenine dinucleotide (phosphate) reduced:quinone oxidoreductase and glutathione S-transferase M1 polymorphisms and childhood asthma.		125860	2068	1	2003												
115846	Y	increased body weight and dyslipoproteinaemia involving triglyceride-rich lipoproteins	METABOLIC	MET	Hyperlipoproteinemias|Body Weight	5	5q31-q32	ADRB2	148186348	148188381		Ehrenborg E et al. 2000	10886486				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Sweden	KGB	154	Hs.591251			Journal of internal medicine. 2000 Jun;247(6):651-6	The Q/E27 polymorphism in the beta2-adrenoceptor gene is associated with increased body weight and dyslipoproteinaemia involving triglyceride-rich lipoproteins.		109690	238	1	2000	 The E27 allele of the beta2-adrenoceptor gene is associated with slightly to moderately elevated BMI and dyslipoproteinaemia involving triglyceride-rich lipoproteins in healthy younger and middle-aged men.											
127920	N	IgE	IMMUNE	IMM	Asthma	2	2q14	IL1B	113303807	113310827	n	Mao X 2000	11027520	*A2			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese		KGB	3553	Hs.126256			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147720	3497	1	2000												
116080	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Jain S et al. 2002	12145290			promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		United States	KGB	183	Hs.19383			The Journal of biological chemistry. 2002 Sep;277(39):36889-96	Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans.		106150	366	1	2002												
138495		hypertension	CARDIOVASCULAR	CARD	Hypertension|Hypercholesterolemia	11	11q22-q23	ATM	107598768	107745036		Morisawa, T.  et al. 2001	11165203				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Clinica chimica acta; international journal of clinical chemistry. 2001 Feb;304(2-Jan):91-7	Influence of angiotensin II type 1 receptor polymorphism on hypertension in patients with hypercholesterolemia		607585	8841	2	2001	These results suggested that high concentration of total cholesterol was an important risk factor to the occurrence of essential hypertension for patients who carried the C allele of the AT(1) gene.	Case:24 borderline hypertensive patients with:hypercholesterolemia;Case:52 normotensive patients with hypercholesterolemia;Case:55 hypertensive patients with hypercholesterolemia										
126375		breast cancer	CANCER	CAN	Breast Neoplasms	16	16q22.1	HP	70646008	70652458		Awadallah, S. M.  et al. 2004	14967153				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2		Jordan	CDC GDPinfo	3240	Hs.134406			Clinica chimica acta; international journal of clinical chemistry. 2004 Mar;341(2-Jan):17-21	Haptoglobin polymorphism in breast cancer patients form Jordan		140100	11336	2	2004	 Results of this study demonstrate that the pattern of Hp phenotype distribution in breast cancer patients is family history-dependent. Hp1 and Hp2 allele frequencies were over-represented in patients with familial and nonfamilial breast cancer, respectively. The pattern is probably attributed to genetic and oxidative stress mechanisms.	Case:128 breast cancer patients (familial, n=42;:nonfamilial, n=86);Control:200:controls										
121088	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714	p=0.002	Bandmann O 1997	9343502				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			TJB	1571	Hs.12907			Lancet. 1997 Oct;350(9085):1136-9			124040	1659	1	1997		Case:100; Control:100										
126434		cognitive ability	PSYCH	PSY		1	1q32-q41	HSD11B1	207926172	207974918		Deary, I. J.  et al. 2005	16236446				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2			CDC GDPinfo	3290	Hs.195040			Neuroscience letters. 2006 Jan;393(1):74-7	Polymorphisms in the gene encoding 11B-hydroxysteroid dehydrogenase type 1 (HSD11B1) and lifetime cognitive change.		600713	11350	2	2005	We conclude that  these variants in HSD11B1 are not significant contributors to the range of cognitive ageing examined here.											
114861		blood pressure, arterial; adiponectin	CARDIOVASCULAR	CARD		3	3q27	ADIPOQ	188043156	188058946		Mousavinasab, F.  et al. 2005	16256387				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Finnish		CDC GDPinfo	9370	Hs.80485			Molecular genetics and metabolism. 2005	Common polymorphisms (single-nucleotide polymorphisms SNP+45 and SNP+276) of the adiponectin gene regulate serum adiponectin concentrations and blood pressure in young Finnish men.		605441	8472	2	2005												
136151		colon cancer	CANCER	CAN	Colonic Neoplasms|Genomic Instability	3	3p22	TGFBR2	30622997	30710637			16380996				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDPinfo	7048	Hs.82028			International journal of cancer Journal international du cancer. 2005	Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers		190182	25640	2	2005												
130992	N	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	11	11q13	MS4A2	59612712	59622592	n	Castro J 1998	9860242	A/B genotypes			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Spanish	Spain	KGB	2206	Hs.386748			Allergy. 1998 Nov;53(11):1083-6			147138	2606	1	1998	 We did not find RasI polymorphisms associated with atopic disease. The genetic findings in atopy and asthma may be very different according to ethnic and local characteristics, and they must be carefully verified in different population samples.	Case:70; Control:51										
135014		behavioral traits; tryptophan depletion sensitivity	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Clark, L.  et al. 2005	16163530				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychopharmacology. 2005 Nov;182(4):570-8	Stop signal response inhibition is not modulated by tryptophan depletion or the serotonin transporter polymorphism in healthy volunteers: implicationsfor the 5-HT theory of impulsivity.		182138	13973	2	2005	 We find no support for the involvement of brain serotonin neurotransmission in this form of inhibitory control in healthy human subjects.											
116086	Y	coronary atherosclerosis.	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q42-q43	AGT	228904891	228916564		Ishigami T et al. 1995	7850980				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Circulation. 1995 Feb;91(4):951-4	Molecular variant of angiotensinogen gene is associated with coronary atherosclerosis.		106150	372	1	1995	 We found a significant association between coronary atherosclerosis and a molecular variant of the angiotensin gene. The results suggested that the molecular variant of the angiotensinogen gene could be a new risk factor for coronary atherosclerosis.											
119324		osteoporosis	METABOLIC	MET	Osteopetrosis	16	16p13	CLCN7	1435344	1465013			16368748				Chloride channel 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001287.3			CDC GDPinfo	1186	Hs.459649			The Journal of clinical endocrinology and metabolism. 2005	Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II		602727	9412	2	2005	 We observed a significant association of CLCN7 polymorphisms with the variance of BMD and bone resorption marker levels in postmenopausal women and with the variability of the ADOII phenotype.											
140112		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Stevens, A. M.  et al. 2005	16142706				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Arthritis and rheumatism. 2005 Sep;52(9):2768-73	Maternal HLA class II compatibility in men with systemic lupus erythematosus.		142857	24839	2	2005	 We observed increased bidirectional HLA class II compatibility of male SLE patients and their mothers compared with healthy men and their mothers. This observation implies that maternal microchimerism could sometimes be involved in SLE and therefore merits further investigation.											
135434		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive	4	4q21-q25	SPP1	89115825	89123587		Caillier, S.  et al. 2003	12761568				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			Genes and immunity. 2003 Jun;4(4):312-5	Osteopontin polymorphisms and disease course in multiple sclerosis.		166490	14061	2	2003	Overall, we observed no evidence of genetic association between the OPN polymorphisms and MS. Although not reaching statistical significance, a modest trend for association with disease course was detected in patients carrying at least one wild-type 1284A allele, suggesting an effect on disease course. Patients with this genotype were less likely to have a mild disease course and were at increased risk for a secondary-progressive clinical type.	Cohort 821 multiple sclerosis patients 										
133944		Brugada syndrome	CARDIOVASCULAR	CARD	Bundle-Branch Block|Syndrome	3	3p21	SCN5A	38564556	38666167		Smits, J. P.  et al. 2002	12106943				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDPinfo	6331	Hs.517898			Journal of the American College of Cardiology. 2002 Jul;40(2):350-6	Genotype-phenotype relationship in Brugada syndrome: electrocardiographic featuresdifferentiate SCN5A-related patients from non-SCN5A-related patients.		600163	19325	2	2002	 We observed significantly longer conduction intervals on baseline ECG in patients with established SCN5A mutations (PQ and HV interval and, upon class I drugs, more QRS increase). These results concur with the observed loss of function of mutated BS-related sodium channels. Brugada syndrome patients with, and those without, an SCN5A mutation can be differentiated by phenotypical differences.	Cohort 77 patients with Brugada syndrome 	I(Na) blocking drugs									
129220	Y	glucose tolerance; insulin	METABOLIC	MET	Glucose Intolerance|Insulin Resistance	1	1p13.3	KCNA3	111015832	111019178			16317062				Potassium voltage-gated channel, shaker-related subfamily, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002232.3			CDC GDPinfo	3738	Hs.169948			The Journal of clinical endocrinology and metabolism. 2006 Feb;91(2):654-8	A New Variant in the Human Kv1.3 Gene Is Associated With Low Insulin Sensitivity and Impaired Glucose Tolerance		176263	17896	2	2005	We show that a variant in the promoter of the Kv1.3 gene is associated with impaired glucose tolerance and lower insulin sensitivity. Therefore, the Kv1.3 channel represents a candidate gene for type 2 diabetes.											
119456		osteoporosis, postmenopausal; estradiol	METABOLIC	MET	Osteoporosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Brodowska, A.   2003	15552843				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Annales Academiae Medicae Stetinensis. 2003 ;49:111-30	[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes]		120150	14729	2	2003	The following conclusions were drawn: 1. There is no connection between VDR and ER gene polymorphism and degree of osteoporosis before treatment. 2. XX, PP and Bb markers or X, P, B alleles are associated with a significant decrease in therapeutic efficacy. Nevertheless, satisfactory results were achieved in each woman with primary osteoporosis. 3. Estradiol concentration in serum before and during HRT does not depend on the polymorphism of VDR and ER genes.	Cohort 44 postmenopausal women aged 44-75 years with primary osteoporosis on cyclic HRT (hormonal replacement therapy) 	calcium hormone replacement therapy physical activity Vitamin D									
140464		osteoporosis, postmenopausal; estradiol	METABOLIC	MET	Osteoporosis	7	7p21	IL6	22733322	22738141		Brodowska, A.   2003	15552843				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Annales Academiae Medicae Stetinensis. 2003 ;49:111-30	[The influence of hormonal replacement therapy on bone density in postmenopausal women depending on polymorphism of vitamin D receptor (VDR) and estrogen receptor (ER) genes]		147620	25039	2	2003	The following conclusions were drawn: 1. There is no connection between VDR and ER gene polymorphism and degree of osteoporosis before treatment. 2. XX, PP and Bb markers or X, P, B alleles are associated with a significant decrease in therapeutic efficacy. Nevertheless, satisfactory results were achieved in each woman with primary osteoporosis. 3. Estradiol concentration in serum before and during HRT does not depend on the polymorphism of VDR and ER genes.	Cohort 44 postmenopausal women aged 44-75 years with primary osteoporosis on cyclic HRT (hormonal replacement therapy) 	calcium hormone replacement therapy physical activity Vitamin D									
118131	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488	n	Steer S et al. 2003	12595627				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Rheumatology (Oxford, England). 2003 Feb;42(2):304-7	Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15.		605956	6809	1	2003	 Within defined statistical parameters, we excluded a role for the CARD15 1007fs and R702W variants in RA susceptibility. These data do not preclude a role for other polymorphisms in the CARD15 gene in RA susceptibility. Results from other autoimmune and inflammatory diseases will reveal whether the CARD15 gene is in fact a common autoimmune susceptibility locus.											
129881		osteoarthritis	METABOLIC	MET	Osteoarthritis	11	11q13.4	LRP5	67836683	67973319		Smith, A. J.  et al. 2005	15979013				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1		Great Britain	CDC GDPinfo	4041	Hs.6347			Osteoarthritis and cartilage. 2005 Jul;13(7):608-13	Haplotypes of the low-density lipoprotein receptor-related protein 5 (LRP5) gene: are they arisk factor in osteoarthritis?		603506	18082	2	2005	 A closer investigation of LRP5 and associated Wnt signalling molecules in OA will help determine disease aetiology and the development of novel treatment strategies that specifically target the bone compartment.											
130424		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Kinikli, G.  et al. 2005	16245224				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			The Turkish journal of gastroenterology. 2005 Sep;16(3):143-146	Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial mediterranean fever (FMF) patients.		608107	25225	2	2005	Our results indicate a relationship between some HLA-DR/DQ alleles and MEFV mutations in Mediterranean fever patients. We suggest HLA-DR/DQ alleles and their role in the pathogenesis of Mediterranean fever need further analysis and comparative studies.											
139957		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kinikli, G.  et al. 2005	16245224				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			The Turkish journal of gastroenterology. 2005 Sep;16(3):143-146	Relationship between HLA-DR, HLA-DQ alleles and MEFV gene mutations in familial mediterranean fever (FMF) patients.		142857	22205	2	2005	Our results indicate a relationship between some HLA-DR/DQ alleles and MEFV mutations in Mediterranean fever patients. We suggest HLA-DR/DQ alleles and their role in the pathogenesis of Mediterranean fever need further analysis and comparative studies.											
121319		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Torok, H. P.  et al. 2005	15955786				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3			CDC GDPinfo	9231	Hs.500245			Gut. 2005 Oct;54(10):1421-7	Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.		604090	13765	2	2005	 Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.											
134585		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Torok, H. P.  et al. 2005	15955786				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Gut. 2005 Oct;54(10):1421-7	Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.		603377	25546	2	2005	 Our observations argue against a role of DLG5 polymorphisms in the susceptibility for inflammatory bowel disease, whereas the OCTN polymorphisms are associated with CD. However, due to the comparable weak association observed herein, extended linkage disequilibrium analyses of these variants with the IBD5 haplotype tagged single nucleotide polymorphims might be advisable before definitive conclusions about their causative role in CD can be drawn.											
138699		mamographic density	OTHER	OTH	Breast Neoplasms|Atherosclerosis	10	10p15-p14	AKR1C4	5228797	5250912		Lord, S. J.  et al. 2005	15987428				Aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001818.2			CDC GDPinfo	1109	Hs.567245			Breast cancer research. 2005 ;7(3):R336-44	Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.		600451	14630	2	2005	 Although based on small numbers, these findings suggest that the magnitude of the increase in mammographic density in women using combined estrogen and progestin therapy may be greater in those with genetically determined lower activity of enzymes that metabolize estrogen and progesterone.											
123666		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p12	GABRA2	45946462	46087178			16395124				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDPinfo	2555	Hs.116250			Psychiatric genetics. 2006 Feb;16(1):17-Sep	Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis		137140	16826	2	2006	 Although our study was limited by the number of cases being larger than the number of controls, the results confirm GABRA2 as a susceptibility gene for alcohol dependence in the German population. We found a consistent increase of the susceptibility effect in alcohol-dependent patients with a presumed strong genetic predisposition.											
131506	N	Norrie disease	OTHER	OTH	Eye Diseases, Hereditary|Retinal Degeneration|Sex Chromosome Aberrations	X	Xp11.4	NDP	43692967	43717694	n	Shastry BS et al. 2000	11094177				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			KGB	4693	Hs.522615			Japanese journal of ophthalmology. 2000 Nov-Dec;44(6):627-9	Lack of association of the Norrie disease gene with retinoschisis phenotype.		310600	4658	1	2000	 Although we cannot completely exclude the possibility of the Norrie disease gene as a candidate gene, the above results suggest that the structural and functional changes in the Norrie disease gene are not associated with clinically typical retinoschisis families that do not contain mutations in the coding regions and splice sites of the retinoschisis gene.											
131137		bone density	METABOLIC	MET		4	4q24	MTTP	100715003	100763649		Yamada, Y.  et al. 2005	15953542				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Japanese		CDC GDPinfo	4547	Hs.195799			Genomics. 2005 Jul;86(1):76-85	Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men.		157147	23053	2	2005	CYP17A1 and MTP are susceptibility loci for increased BMD in postmenopausal and premenopausal Japanese women, respectively, and that VLDLR constitutes such a locus in Japanese men.											
134682		blood pressure, arterial	CARDIOVASCULAR	CARD	Tachycardia	16	16q12.2	SLC6A2	54247522	54295201		Nickander, K. K.  et al. 2005	15946904				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDPinfo	6530	Hs.78036			Autonomic neuroscience. 2005 Jun;120(2-Jan):97-103	A screen of candidate genes and influence of beta2-adrenergic receptor genotypes in postural tachycardia syndrome.		163970	25549	2	2005	 Of the candidate genes screened, none harbored a SNP considered to be causally related to POTS. There was significant association of HR and DBP with SNPs of the gene encoding beta2AR; Gly16 or Glu27 could aggravate orthostatic tachycardia by excessive venous pooling.											
120014		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Razmkhah, M.  et al. 2005	15978329				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2		Iran	CDC GDPinfo	6387	Hs.522891			Cancer letters. 2005 Jul;225(2):261-6	Stromal cell-derived factor-1 (SDF-1) alleles and susceptibility to breast carcinoma.		600835	9645	2	2005	Results showed that the frequency of AA and AG genotypes was higher among patients, while the frequency of GG genotype was lower compared to the controls. Thus AA and AG genotypes of SDF-1 may be considered as factors increasing the susceptibility of Iranian women to breast cancer.											
131270	Y	glaucoma	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Takahashi H et al. 2002	11979979				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			KGB	4653	Hs.436037			Nippon Ganka Gakkai zasshi. 2002 Apr;106(4):201-7	Two families with primary open-angle glaucoma associated with myocilin gene mutations		601652	4644	1	2002	 Since the Asp 208 Glu mutation was found in NTG, the pathogenesis of glaucoma with myocilin mutation might be more complex and it may be related to weakness of the optic nerve head. On the other hand, the mutation may be a polymorphism. The Ile 360 Asn mutation was considered to be disease-causing. However, both late-onset glaucoma cases and non-glaucomatous cases were observed in this family. The implications of the mutation and other risk factors remain to be discussed.											
119162		macular degeneration; soft drusen	VISION	VIS	Macular Degeneration|Retinal Drusen|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Magnusson, K. P.  et al. 2005	16300415	Y402H			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDPinfo	3075	Hs.363396			PLoS medicine. 2006 Jan;3(1):e5	CFH Y402H Confers Similar Risk of Soft Drusen and Both Forms of Advanced AMD.		134370	15752	2	2005	 Soft drusen occur prior to progression to advanced AMD and represent a histological feature shared by neovascular AMD and GA. Our results suggest that CFH is a major risk factor of soft drusen, and additional genetic factors and/or environmental factors may be required for progression to advanced AMD.											
116121		plasma renin and prorenin levels	METABOLIC	MET		1	1q42-q43	AGT	228904891	228916564		Danser AH et al. 1998	9886872				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Journal of hypertension. 1998 Dec;16(12 Pt 2):1879-83	Angiotensinogen (M235T) and angiotensin-converting enzyme (I/D) polymorphisms in association with plasma renin and prorenin levels.		106150	407	1	1998	 The angiotensinogen T235 allele is associated with decreased renin levels. This finding may point to a mechanism that counteracts the genetic elevation of angiotensinogen plasma levels and, thus, the plasmatic angiotensin II-generating pathway in subjects carrying the angiotensinogen T235 allele. These results may help to explain discrepant findings regarding associations between this allele and cardiovascular disorders. Furthermore, the presumed feedback downregulation of renin levels supports the importance of angiotensinogen as a determinant of angiotensin II generation. Finally, no evidence was found suggesting that the ACE D allele affects components of the circulating renin-angiotensin system other than plasma ACE.											
139093		timolol pharmacokinetics	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827			16315032				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2005 Dec;61(11):811-9	Polymorphisms of genes CYP2D6, ADRB1 and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study		124030	21025	2	2005	 The CYP2D6 poor metabolisers may be more prone to systemic adverse events with aqueous timolol than extensive metabolisers. Since CYP2D6 genotyping is not routine clinical practice, using 0.1% timolol hydrogel instead of 0.5% aqueous preparation will increase patient safety.											
122784		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Venous Thrombosis	1	1q23	F5	167747815	167822393		Silingardi M 2004	15077257				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Italian	Italy	KGB	2153	Hs.30054			Arthritis and rheumatism. 2004 Apr;51(2):177-83	Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis.		227400	2500	1	2004	 The frequency and types of vascular lesions in Italian BD patients were similar to those reported in studies from other countries. No association between factor V Leiden mutation and G20210A mutation in the 3'-untranslated region of the prothrombin gene with DVT was found. However, a prothrombin gene G20210A mutation may influence the development and severity of ocular involvement in BD.											
142451	Y	increased prevalence and level of insulin autoantibodies	METABOLIC	MET	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Ziegler R et al. 1991	2040387	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Diabetes. 1991 Jun;40(6):709-14	Specific association of HLA-DR4 with increased prevalence and level of insulin autoantibodies in first-degree relatives of patients with type I diabetes.		142857	7816	1	1991	We conclude that , in first-degree relatives of patients with type I diabetes, there is a striking association with HLA-DR4 in both the prevalence of relatives exceeding the normal CIAA range and in the level of CIAAs. These data suggest that a gene on HLA-DR4 haplotypes contributes to the level of anti-insulin autoimmunity, and we hypothesize that DR4-associated diabetes susceptibility, distinct from DR3-associated susceptibility, may be secondary to this influence.											
134609		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Baroni MG 1994	7516306				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1	Italian		Y Wang	6513	Hs.473721			Human genetics. 1994 Jun;93(6):675-80	Affected sib-pair analysis of the GLUT1 glucose transporter gene locus in non-insulin-dependent diabetes mellitus (NIDDM): evidence for no linkage.		138140	5405	1	1994	We conclude that  the GLUT1 gene is very unlikely to play a major role in the aetiology of NIDDM, although an accessory role cannot be excluded, and studies of the gene sequence should help to clarify this question.											
116908	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemias	2	2p24-p23	APOB	21077805	21120450		Gaffney D et al. 1995	7627691				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Arteriosclerosis, thrombosis, and vascular biology. 1995 Aug;15(8):1025-9	Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.		107730	603	1	1995	We conclude that  this arginine 3500 is essential to the function of apoB and that its loss and replacement by glutamine or tryptophan is responsible for the hypercholesterolemia of familial defective apoB 100.											
116100	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	1	1q42-q43	AGT	228904891	228916564		Katsuya T et al. 1995	7783537				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Lancet. 1995 Jun;345(8965):1600-3	Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease.		106150	386	1	1995	We conclude that  the T235 polymorphism of the angiotensinogen gene is an independent risk factor, which carries an approximately two-fold increased risk of CHD. In this study, however, ACE DD was not associated with any detectable increase in CHD risk.											
123000	Y	increased fatty acid binding increased fat oxidation and insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Baier LJ et al. 1995	7883976				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Arizona	KGB	2169	Hs.282265			The Journal of clinical investigation. 1995 Mar;95(3):1281-7	An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding increased fat oxidation and insulin resistance.		134640	2547	1	1995	We conclude that  the threonine-containing protein may increase absorption and/or processing of dietary fatty acids by the intestine and thereby increase fat oxidation, which has been shown to reduce insulin action.											
129779		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2|Obesity	8	8p22	LPL	19841057	19869049		Wang XL et al. 1996	8641022				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Circulation. 1996 Apr;93(7):1339-45	Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes.		609708	4324	1	1996	 We conclude that the lipoprotein lipase Pvu II polymorphism is significantly associated with CAD severity and with type II diabetes in CAD patients, independent of changes in circulating lipid levels. These findings may be relevant to mechanisms mediating atherogenesis.											
116078	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Sato N et al. 1997	9314411			promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Japanese	Japan	KGB	183	Hs.19383			Hypertension. 1997 Sep;30(3 Pt 1):321-5	Association of variants in critical core promoter element of angiotensinogen gene with increased risk of essential hypertension in Japanese.		106150	364	1	1997	We conclude that  C-18T polymorphism in AGCE1 is a genetic risk factor for essential hypertension in the Japanese and is more tightly and directly associated with hypertension than TT/M235T.											
116232	N	Diabetic Nephropathy	RENAL	REN	Diabetic Nephropathies|Hypertension|Diabetes Mellitus, Type 1	3	3q21-q25	AGTR1	149898347	149943480	n	Chowdhury TA 1997	9371475	A1166C polymorphism			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Caucasoid patients		KGB	185	Hs.477887			Diabetic medicine. 1997 Oct;14(10):837-40			106165	424	1	1997	We conclude that  there is no significant association between the hypertension associated AT1R gene polymorphism and diabetic nephropathy in patients with IDDM in the UK.	Case:336; Control:212										
139613	Y	subacute G(M2) gangliosidosis	OTHER	OTH	Tay-Sachs Disease	15	15q23-q24	HEXA	70422831	70455457		Petroulakis E et al. 1998	9603435				Hexosaminidase A (alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000520.2			KGB	3073	Hs.513008			Human mutation. 1998 ;11(6):432-42	W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.		606869	7064	1	1998	We conclude that  the 1422 G-->C mutation is the cause of Hex A enzyme deficiency in the proband. The resulting W474C substitution clearly interferes with alpha-subunit processing, but because the base substitution falls at the first position of exon 13, aberrant splicing may also contribute to Hex A deficiency in this proband.											
132290		alcoholism	CHEMDEPENDENCY	CHEM	Pancreatitis|Pancreatitis, Alcoholic|Inflammation|	2	2p12	PAP	79239007	79266184		Keim V et al. 1999	10505755				Regenerating islet-derived 3 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138938			KGB	5068	Hs.503388			Pancreas. 1999 Oct;19(3):248-54	The pancreatitis-associated protein in hereditary and chronic alcoholic pancreatitis.			4879	1	1999	We conclude that  there is a lack of PAP polymorphism in hereditary and alcoholic pancreatitis and that expression of the PAP in both groups of patients is related to the degree of cellular damage of the pancreas.											
132465		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21.1	PEA15	158441750	158451786		Wolford JK et al. 2000	10607908				Phosphoprotein enriched in astrocytes 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003768.2			KGB	8682	Hs.517216			Gene. 2000 Jan;241(1):143-8	Molecular characterization of the human PEA15 gene on 1q21-q22 and association with type 2 diabetes mellitus in Pima Indians.		603434	6586	1	2000	We conclude that  mutations in this gene probably do not contribute significantly to disease susceptibility in this Native American tribe. However, knowledge of the genomic structure of PEA15 provides the basis for similar systematic examinations of this candidate locus in relation to type 2 diabetes and other metabolic disorders in other populations.											
134803		schizophrenia	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Liu W et al. 1999	10780268				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		KGB	6532	Hs.591192			Pharmacogenetics. 1999 Aug;9(4):491-5	Tentative association of the serotonin transporter with schizophrenia and unipolar depression but not with bipolar disorder in Han Chinese.		182138	5472	1	1999	We conclude that  the SERT VNTR polymorphism may be a risk factor for both schizophrenia and unipolar depression, but not for bipolar disorder, in the Han Chinese.											
130976	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity	11	11q13	MS4A2	59612712	59622592	n	Zhu S 2000	10806171	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2		Asia	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2000 May;161(5):1655-9			147138	2590	1	2000	We conclude that  IL-4-589*T, but not TNF-alpha-308*2 or Fcalpha RIbeta*G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.											
115484	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Province MA et al. 2000	10912758				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		United States	KGB	118	Hs.183706			American journal of hypertension. 2000 Jun;13(6 Pt 1):710-8	Association between the alpha-adducin gene and hypertension in the HyperGEN Study.		102680	119	1	2000	We conclude that  the alpha-adducin gene is a significant, independent risk factor for hypertension in whites, but not in blacks, and may play a particularly important role for subjects with certain constellations of other risk factors.											
116254	Y	hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Spiering W et al. 2000	10988274				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Hypertension. 2000 Sep;36(3):411-6	Angiotensin II sensitivity is associated with the angiotensin II type 1 receptor A(1166)C polymorphism in essential hypertensives on a high sodium diet.		106165	446	1	2000	We conclude that  the C allele of the AT(1)R A(1166)C polymorphism is associated with increased sensitivity but not reactivity to Ang II. An augmented response to Ang II may well be responsible for the increased incidence of cardiovascular abnormalities found in patients with 1 or 2 C alleles.											
141238	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Pulkkinen A et al. 2000	11043380			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2000 ;78(7):372-9	Intron 4 polymorphism of the endothelial nitric oxide synthase gene is associated with elevated blood pressure in type 2 diabetic patients with coronary heart disease.		163729	7451	1	2000	We conclude that  the 4a allele of the eNOS gene is not associated with CHD or type 2 diabetes, but that it is related to elevated blood pressure levels particularly among type 2 diabetic patients with CHD.											
115833	N	obesity	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance|Obesity	5	5q31-q32	ADRB2	148186348	148188381	n	Kawamura T et al. 2001	11288039				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Japanese		KGB	154	Hs.591251			Metabolism:  clinical and experimental. 2001 Apr;50(4):443-6	Gln27Glu variant of the beta2-adrenergic receptor gene is not associated with obesity and diabetes in Japanese-Americans.		109690	225	1	2001	We conclude that  the beta(2)-AR gene (Gln27Glu) variant might not be an important factor for obesity or IGT in Japanese subjects.											
118744	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	n	Hakonarson H 2001	11739132	C-155T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Icelandic	Iceland	KCB	929	Hs.163867			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			158120	1108	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
115849	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Hakonarson H 2001	11739132	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Icelandic	Iceland	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			109690	241	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
130977	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592	n	Hakonarson H 2001	11739132	I181L. +5290. 2 (Ex 6)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Icelandic	Iceland	KCB	2206	Hs.386748			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147138	2591	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
129938	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077	n	Hakonarson H 2001	11739132	G205C			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Icelandic	Iceland	KCB	4049	Hs.36			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			153440	4372	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128310	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Hakonarson H 2001	11739132	C-525T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Icelandic	Iceland	KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147780	3621	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
138055	N	autism	PSYCH	PSY	Language Disorders	7	7q31	WNT2	116704517	116750579	n	McCoy PA et al. 2002	11840514				Wingless-type MMTV integration site family member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003391.1			KGB	7472	Hs.567356			American journal of medical genetics. 2002 Jan;114(1):106-9	No association between the WNT2 gene and autistic disorder.		147870	6517	1	2002	We conclude that  activating mutations of the WNT2 gene are not a major contributor to the development of autistic disorder in these data.											
116117	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Vasku A et al. 2002	12037699				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Journal of human hypertension. 2002 Jun;16(6):427-30	An association of BMI with A (-6) G M235T and T174M polymorphisms in angiotensinogen gene in essential hypertension.		106150	403	1	2002	We conclude that  a different distribution of BMI could influence the results of analyses of angiotensinogen gene polymorphisms in essential hypertension-control studies.											
131383		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	8	8p22	NAT2	18293034	18303003		Zschieschang P 2002	12360107				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian	Europe	Y Wang	10	Hs.2			Pharmacogenetics. 2002 Oct;12(7):559-63	Lack of association between arylamine N-acetyltransferase 2 (NAT2) polymorphism and systemic lupus erythematosus.		243400	50	1	2002	We conclude that  this large genotyping study in a Caucasian population demonstrated a lack of evidence for an association of the slow acetylator genotype with SLE.											
133011	Y	oxidized low-density lipoprotein and cardiolipin autoantibodies	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Niskanen L et al. 2003	12601635	PRO12ALA			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Metabolism:  clinical and experimental. 2003 Feb;52(2):213-7	Association of the PRO12ALA polymorphism of the PPAR-gamma2 gene with oxidized low-density lipoprotein and cardiolipin autoantibodies in nondiabetic and type 2 diabetic subjects.		601487	5087	1	2003	We conclude that  the Pro12Ala polymorphism of the PPAR-gamma2 gene was associated with increased ox-LDL autoantibodies in type 2 diabetic subjects. Genotype may therefore modulate the oxidative modification of LDL in hyperglycemic milieu.											
122439	Y	bone mineral density	METABOLIC	MET	Fractures, Bone	6	6q25.1	ESR1	152053407	152466099		van Meurs JB 2003	12837697				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Human molecular genetics. 2003 Jul;12(14):1745-54	Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk.		133430	2430	1	2003	We conclude that  ESR1 polymorphism in the 5' (promoter) region is associated with vertebral fracture risk, lumbar spine BMD and vertebral bone area in postmenopausal women, but not in men. The molecular mechanism underlying this association needs further study.											
135986	N	breast cancer	CANCER	CAN	Breast Neoplasms	19	19q13.2	TGFB1	46528490	46551656	n	Krippl P 2003	14607332				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Cancer letters. 2003 Nov;201(2):181-4	The L10P polymorphism of the transforming growth factor-beta 1 gene is not associated with breast cancer risk.		190180	5809	1	2003	We conclude that  the TGFB1 L10P polymorphism is not associated with breast cancer risk.											
138894		bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder, Major|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Tunbridge E 2004	14618678				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Synapse (New York, NY). 2004 Feb;51(2):112-8	Catechol-o-methyltransferase (COMT) and proline dehydrogenase (PRODH) mRNAs in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression.		116790	6975	1	2004	We conclude that  any involvement of COMT and PRODH genes in schizophrenia is not accompanied by significant alterations in their overall mRNA expression, at least in dorsolateral prefrontal cortex. As COMT and PRODH are both located on chromosome 22q11, the results also argue against the hypothesis that schizophrenia is associated with a decrease in expression of all 22q11 genes, as had been suggested by the high prevalence of psychosis in people with hemizygous 22q11 deletions.											
137809	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Turpeinen H et al. 2003	14641002				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Finnish	Finland	Y Wang	7421	Hs.524368			European journal of endocrinology. 2003 Dec;149(6):591-6	Vitamin D receptor polymorphisms: no association with type 1 diabetes in the Finnish population		601769	6456	1	2003	 All these differences disappeared after correction for multiple testing. We conclude that the single nucleotide polymorphisms analysed are unlikely to be associated with type 1 diabetes in the Finnish population.											
115878		cardiovascular	CARDIOVASCULAR	CARD	Stress	5	5q31-q32	ADRB2	148186348	148188381		Eisenach JH 2004	14665698	Arg16/Gly			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Physiological genomics. 2004 Feb;16(3):323-8	The Arg16/Gly beta2-adrenergic receptor polymorphism is associated with altered cardiovascular responses to isometric exercise.		109690	270	1	2004	We conclude that  the cardiovascular responses to MS and CPT do not differ between Gly16 and Arg16 homozygotes. However, the greater HR response to exercise in the Gly16 homozygotes may serve to maintain the pressor response (increased cardiac output) in the face of augmented peripheral vasodilation (decreased total peripheral resistance) in this group.											
116842		Coronary Heart Disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Peros E 2004	14719130				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			KGB	116519	Hs.283923			International journal of molecular medicine. 2004 Feb;13(2):243-7	Apolipoprotein(a) phenotypes are reliable biomarkers for familial aggregation of coronary heart disease.		606368	6854	1	2004	We conclude that  apo(a) size polymorphism is strongly associated with a familial history of CHD and is more efficient than Lp(a) plasma concentrations in predicting the familial clustering of coronary disease. When detected by high-resolution techniques, apo(a) phenotypes are objective laboratory markers that can substitute for a knowledge of a positive family history of CHD and should be used, together with Lp(a) levels, to better assess the familial predisposition to coronary events.											
131767		kidney disease	RENAL	REN	Kidney Diseases|Syndrome	1	1p36.22	NPHP4	5845456	5975118		Hoefele, J.  et al. 2005	15776426				Nephronophthisis 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015102.2			CDC GDPinfo	261734	Hs.462348			Human mutation. 2005 Apr;25(4):411	Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.		607215	18677	2	2005	We conclude that : i) two recessive mutations in NPHP4 are a rare cause of nephronophthisis; ii) single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations; iii) there is no genotype/phenotype correlation; iv) there must exist further genes causing nephronophthisis, since in 224/250 (90%) patients, no sequence variants in either of the four NPH genes were detected.	Cohort 250 patients with isolated nephronophthisis, Senior-Loken syndrome, or Cogan syndrome ascertained worldwide over 14 years 										
130664		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Shan, K.  et al. 2005	15879464			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		China	CDC GDPinfo	4312	Hs.83169			Molecular human reproduction. 2005 Jun;11(6):423-7	The function of the SNP in the MMP1 and MMP3 promoter in susceptibility to endometriosis in China.		120353	18309	2	2005	We conclude that  the MMP1 promoter SNP and MMP 2G/6A haplotype may modify susceptibility to endometriosis, but that the MMP3 promoter SNP is unlikely to be associated with endometriosis in the population of North China.											
119063		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	13	13q12.3	CDX2	27434277	27441317		Rozek, L. S.  et al. 2005	15994917				Caudal type homeo box transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001265.2			CDC GDPinfo	1045	Hs.174249			Cancer research. 2005 Jul;65(13):5488-92	CDX2 polymorphisms, RNA expression, and risk of colorectal cancer.		600297	9361	2	2005	We conclude that  it is unlikely that common CDX2 variants account for a measurable fraction of susceptibility to colorectal cancer in this population. However, CDX2 expression levels were strongly associated with microsatellite instability and tumor location in the gastrointestinal tract, consistent with a possible role in the specification of gastrointestinal epithelial cell fate in humans.											
132079		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q24.2	OAS2	111900656	111933911		Tessier, M. C.  et al. 2005	16014697				2'-5'-oligoadenylate synthetase 2, 69/71kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016817.2			CDC GDPinfo	4939	Hs.414332			Journal of medical genetics. 2006 Feb;43(2):129-132	Type 1 diabetes and the OAS gene cluster:association with splicing polymorphism or haplotype?		603350	23187	2	2005	 We confirm the T1D association with rs10774671, but we conclude that it cannot be attributed (solely) to the splicing variant rs10774671. A serine/glycine substitution in OAS1 exon 3 is more likely a functional variant.											
137879		lead toxicity	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Weaver, V. M.  et al. 2005	16263504				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean		CDC GDPinfo	7421	Hs.524368			Environmental health perspectives. 2005 Nov;113(11):1509-15	Associations of uric acid with polymorphisms in the delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase genes in Korean lead workers.		601769	25765	2	2005	We conclude that  genetic polymorphisms may modify uric acid mediation of lead-related adverse renal effects.											
124237		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.2	GRIK5	47194312	47261797			16325263				Glutamate receptor, ionotropic, kainate 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002088.3			CDC GDPinfo	2901	Hs.367799			Psychiatry research. 2006 Jan;141(1):39-51	Association study of polymorphisms in the GluR7, KA1 and KA2 kainate receptor genes (GRIK3, GRIK4, GRIK5) with schizophrenia		600283	24484	2	2005	We conclude that  SNPs in the gene regions of GRIK3, GRIK4 or GRIK5 do not play a major role in schizophrenia pathogenesis in the Japanese population.											
128796	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3-p13.2	INSR	7063265	7245011		Zee RY et al. 1993	8301111			intron	Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Journal of hypertension. 1993 Nov;11(11):1283-8	Short report: insertion variant in intron 9 but not microsatellite in intron 2 of the insulin receptor gene is associated with essential hypertension.		147670	4019	1	1993	 The present study allows definition of the hypertension-associated variants of INSR as those which are in linkage disequilibrium with a (CA)-repeat insertion polymorphism in intron 9 of the large, 22 exon, > 120-kb gene, but not those associated with a polymorphism in the second intron.											
133651	Y	Autosomal dominant cone-rod dystrophy	OTHER	OTH	Retinal Degeneration	6	6p21.2-p12.3	RDS	42772318	42798287		Nakazawa M et al. 1996	8540854	codon 244 (Asn244His) and codon 184 (Tyr184Ser)			Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			Archives of ophthalmology. 1996 Jan;114(1):72-8	Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.		179605	5259	1	1996	 The Asn244His and Tyr184Ser mutations in the peripherin/RDS gene cause con-rod dystrophy type 2a. These findings imply that a mutation in codon 244 or codon 184 of the peripherin/RDS gene affects the functions and/or structural stability of cones and rods.											
135971		colorectal cancer: association	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Tsushima H et al. 1996	8566583				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Gastroenterology. 1996 Feb;110(2):375-82	High levels of transforming growth factor beta 1 in patients with colorectal cancer: association with disease progression.		190180	5794	1	1996	 These results suggest that plasma TGF-beta 1 levels may reflect overexpression of the gene in colon cancer tissues and are associated with disease progression.											
136482		community-acquired pneumonia (CAP)	INFECTION	INF	Sepsis|Acute Disease|Multiple Organ Failure	6	6p21.3	TNF	31651328	31654091	<0.005	Stuber F 1996	8625623	TNFB2 (homozygotes)			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	40 SS pts (nonsurvivors)		KGB	7124	Hs.241570			Critical care medicine. 1996 Mar;24(3):381-4			191160	5958	1	1996	 The bi-allelic Ncol polymorphism within the TNF locus is a genomic marker for patients with increased TNF-alpha response and poor prognosis in severe sepsis. The amount of TNF released in situations of severe infection and sepsis appears to be influenced genetically. TNFB2 homozygous individuals displaying increased circulating TNF plasma concentrations combined with high mortality rate may be included in future studies testing anti-TNF strategies in severe sepsis.											
133790	Y	Autosomal-dominant retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Pannarale MR et al. 1996	8841304				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2			KGB	6010	Hs.247565			Ophthalmology. 1996 Sep;103(9):1443-52	Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.		180380	5286	1	1996	 The phenotype associated with mutations in codon 135 of the rhodopsin molecule appears to have an unusually high progression rate and yields an extremely poor prognosis. These distinctive features make the Arg-135-Trp phenotype substantially different from the general RP population, and also from many of the other adRP pedigrees with known rhodopsin mutations reported to date.											
131375	N	Breast Cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003	n	Ambrosone CB 1996	8903261	NAT2 polymorphisms ?????			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		TJB	10	Hs.2			JAMA. 1996 Nov;276(18):1494-501			243400	42	1	1996	 Our results suggest that smoking may be an important risk factor for breast cancer among postmenopausal women who are slow acetylators, demonstrate heterogeneity in response to carcinogenic exposures, and may explain previous inconsistent findings for cigarette smoking as a breast cancer risk factor.	Case:304; Control:327										
142563	Y	Vogt-Koyanagi-Harada syndrome	IMMUNE	IMM	Uveomeningoencephalitic Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Weisz JM et al. 1995	9121744	DR1 and -DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Central America|Mexico|California	KGB	3123	Hs.534322			Ophthalmology. 1995 Jul;102(7):1012-5	Association between Vogt-Koyanagi-Harada syndrome and HLA-DR1 and -DR4 in Hispanic patients living in southern California.		142857	7928	1	1995	 HLA-DR1 and -DR4 were found in a significantly disproportionate number of Hispanic patients with VKH syndrome living in southern California. HLA-DR4, although not HLA-DR1, has been previously associated with VKH syndrome in other groups. These associations suggest a common immunogenic predisposition to VKH among different racial groups, and suggest that a common epitope shared by DR1 and DR4 may be involved in the pathogenesis of the disease.											
116134		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Lesage S 1997	9218178				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Caucasian		Y Wang	183	Hs.19383	Complications		Journal of hypertension. 1997 Jun;15(6):601-6	Genetic studies of the renin-angiotensin system in arterial hypertension associated with non-insulin-dependent diabetes mellitus.		106150	420	1	1997	 These results suggest that the AGT and AT1 receptor genes are not major genetic determinants of hypertension associated with NIDDM in this population, although we can not exclude the possibility that these loci make a minor contribution in a polygenic context.											
119716	Y	Graves disease	IMMUNE	IMM	Hypothyroidism|Autoimmune Diseases|Graves Disease|Disease Susceptibility	22	22q13.1	CYP2D6	40852444	40856827		Kotsa K et al. 1997	9231050				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			KGB	1493	Hs.333497			Clinical endocrinology. 1997 May;46(5):551-4	A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism.		123890	1466	1	1997	 These results confirm that the CTLA-4 gene, or one closely associated with it, confers susceptibility to Grave's disease but is not specific as the CTLA-4 106 allele is also associated with autoimmune hypothyroidism. This association seems to be with autoimmune thyroid disease in general.											
129773	Y	increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations	METABOLIC	MET	Myocardial Infarction|Arteriosclerosis	8	8p22	LPL	19841057	19869049		Gerdes C et al. 1997	9264476				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Circulation. 1997 Aug;96(3):733-40	Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies.		609708	4318	1	1997	 The two LPL mutations are common and may predispose to elevated TG and decreased HDL-C concentrations, even in young subjects. In the case of the S291 mutation, this effect appears to be mediated via delayed postprandial TG clearance. Moreover, even moderate obesity potentiates the TG-raising and HDL-lowering effects associated with the S291 allele.											
132498	Y	Helicobacter pylori infection	INFECTION	INF	Helicobacter Infections|Duodenal Ulcer|Stomach Ulcer|Disease Susceptibility	6	6p21.3-p21.1	PGC	41812429	41829825		Ohtaka Y et al. 1997	9391244				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1			KGB	5225	Hs.1867			Gut. 1997 Oct;41(4):469-74	Association between genetic polymorphism of the pepsinogen C gene and gastric body ulcer: the genetic predisposition is not associated with Helicobacter pylori infection.		169740	4939	1	1997	 These results suggest that there is a significant association between this genetic polymorphism at the PGC gene locus and gastric body ulcer. There are differences in the genetic aetiology between gastric body ulcer and gastric angular or antral ulcer. PGC-RFLP may be used as a genetic marker for a genetic predisposition to gastric body ulcer; this genetic predisposition is not associated with H pylori infection.											
128487	Y	hyper-IgE syndrome and severe eczema. atopy	IMMUNE	IMM	Dermatitis, Atopic|Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600	0.001	Hershey GKK 1997	9392697	Arg576G			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KGB	3566	Hs.513457			The New England journal of medicine. 1997 Dec;337(24):1720-5			147781	3711	1	1997	 The R576 allele of interleukin-4 receptor alpha is strongly associated with atopy. This mutation may predispose persons to allergic diseases by altering the signaling function of the receptor.											
123165		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1q23	FCGR2A	159741843	159760427		Smyth LJ 1997	9496155				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Great Britain|Greece	Y Wang	2212	Hs.352642			Annals of the rheumatic diseases. 1997 Dec;56(12):744-6	Fc gamma RIIa polymorphism in systemic lupus erythematosus.		146790	2636	1	1997	 The Fc gamma RIIa R allele does not seem to be associated with SLE (with or without renal disease) in our United Kingdom white or Greek populations.											
131789		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	1	1p36.21	NPPA	11828362	11830422		Schmidt S 1998	9681733				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			Y Wang	4878	Hs.75640	Complications		Nephrology, dialysis, transplantation. 1998 Jul;13(7):1807-10	A polymorphism in the gene for the atrial natriuretic peptide and diabetic nephropathy. Diabetic Nephropathy Study Group.		108780	4763	1	1998	 The polymorphism in the gene for the atrial natriuretic peptide does not seem to play a major role in the development of diabetic nephropathy in either type I or in type II diabetes.											
126661	N	neuroleptic malignant syndrome	PSYCH	PSY	Neuroleptic Malignant Syndrome	13	13q14-q21	HTR2A	46305513	46368995	n	Kawanishi C et al. 1998	9734554				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			The American journal of psychiatry. 1998 Sep;155(9):1275-7	Lack of association between neuroleptic malignant syndrome and polymorphisms in the 5-HT1A and 5-HT2A receptor genes.		182135	3287	1	1998	 The authors cannot conclude that polymorphisms in the 5-HT1A and 5HT2A receptor genes are factors determining susceptibility to the neuroleptic malignant syndrome.											
119730	N	postpartum thyroiditis.	IMMUNE	IMM	Puerperal Disorders|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928	n	Waterman EA et al. 1998	9828915				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KGB	1493	Hs.247824			Clinical endocrinology. 1998 Aug;49(2):251-5	A study of the association between a polymorphism in the CTLA-4 gene and postpartum thyroiditis.		123890	1480	1	1998	 No significant association exists between postpartum thyroiditis and a polymorphism in the CTLA-4 gene. Furthermore, a natural variation in the prevalence of the polymorphism in healthy UK populations underscores the need to select appropriately matched normal subjects in future case-control studies.											
117708	N	Cerebral Amyloid Angiopathy (CAA)	OTHER	OTH	Cerebral Amyloid Angiopathy|Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944	n	Yamada M 1998	9836756	K			Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			TJB	590	Hs.420483			Stroke; a journal of cerebral circulation. 1998 Dec;29(12):2488-90			177400	937	1	1998	 Our results may suggest that BCHE-K is not a definitive risk factor for CAA in the elderly, although further study with larger samples is necessary to confirm this.	Case:48; Control:107										
120145	N	left ventricular structure	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	8	8q21-q22	CYP11B2	143988976	143996261	n	Schunkert H et al. 1999	10226090				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			KGB	1585	Hs.632054			Circulation. 1999 May;99(17):2255-60	Lack of association between a polymorphism of the aldosterone synthase gene and left ventricular structure.		124080	1675	1	1999	 The data are not in favor of a significant contribution of the C/T exchange at position -344 in the aldosterone synthase transcriptional regulatory region to the variability of serum aldosterone levels, blood pressure, or cardiac size or function as found in 2 white population-based samples.											
116244	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	3	3q21-q25	AGTR1	149898347	149943480	n	Savage DA et al. 1999	10328465				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Nephrology, dialysis, transplantation. 1999 Apr;14(4):891-4	Risk of developing diabetic nephropathy is not associated with synergism between the angiotensin II (type 1) receptor C1166 allele and poor glycaemic control.		106165	436	1	1999	 The results of this study do not support previous findings that the risk of diabetic nephropathy is associated with synergism between poor glycaemic control and carriage of the C1166 allele or inheritance of the C1166/major microsatellite haplotype.											
115864		Bronchodilator	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Lima J 1999	10340917	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Clinical pharmacology and therapeutics. 1999 May;65(5):519-25			109690	256	1	1999	 The beta2-adrenergic receptor gene polymorphism is a major determinant of bronchodilator response to albuterol. Future pharmacodynamic studies of beta2-agonists should include determination of 02-adrenergic receptor genotype.											
129768		total cholesterol and LDL-cholesterol	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Larson I et al. 1999	10388470				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			Clinical chemistry. 1999 Jul;45(7):963-8	The lipoprotein lipase HindIII polymorphism: association with total cholesterol and LDL-cholesterol but not with HDL and triglycerides in 342 females.		609708	4313	1	1999	 These results suggest that in a gender-specific manner, the rare LPL HindIII H- allele has a cholesterol-lowering and, therefore, potentially cardioprotective effect compared with the common H+ allele.											
134792	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Ishiguro H et al. 1999	10443997				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Japanese	Japan	KGB	6532	Hs.591192			Alcoholism, clinical and experimental research. 1999 Jul;23(7):1281-4	Association between drinking-related antisocial behavior and a polymorphism in the serotonin transporter gene in a Japanese population.		182138	5461	1	1999	 The present study failed to provide supportive evidence for an association of the S/S genotype with severe alcoholism marked by physical withdrawal symptoms or with antisocial behaviors among the Japanese. Although our data support involvement of the central serotoninergic system in some types of alcoholism, the potential association findings of this study emerged as only exploratory and, therefore, should be understood as tentative until replicated in other studies.											
126516		Septic shock	IMMUNE	IMM	Sepsis|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814	NS	Schroeder S 1999	10446818	HSP70-HOM C/T			Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	87 SS pts		KGB	3305	Hs.558337			Critical care medicine. 1999 Jul;27(7):1265-70			140559	3223	1	1999	 Our data show that the bi-allelic NcoI and PstI polymorphisms within the HSP70-HOM and HSP70-2 locus, respectively, are associated with neither susceptibility to nor outcome of severe sepsis. Moreover, we found a linkage between HSP70-2 A homozygotes and the previously reported and mortality-related homozygous genotype, TNFB2/B2, in patients suffering from severe sepsis.											
137126	N	non-asbestos-associated mesotheliomas.	CANCER	CAN	Mesothelioma|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642	n	Mayall FG et al. 1999	10474522				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Journal of clinical pathology. 1999 Apr;52(4):291-3	Mutations of p53 gene and SV40 sequences in asbestos associated and non-asbestos-associated mesotheliomas.		191170	6149	1	1999	 Immunostaining for the p53 gene was relatively common but p53 mutations were rare in this series. SV40 virus sequence was detected in five of seven asbestos associated mesotheliomas but in none of the non-asbestos-associated mesotheliomas. This suggests there may be a synergistic interaction between asbestos and SV40 in human mesotheliomas. A study with a larger number of cases is needed to investigate these observations further.											
116113	Y	coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q42-q43	AGT	228904891	228916564		Gardemann A et al. 1999	10488958				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383	extent of disease		Atherosclerosis. 1999 Aug;145(2):309-14	Angiotensinogen T174M and M235T gene polymorphisms are associated with the extent of coronary atherosclerosis.		106150	399	1	1999	 The present study strengthens the hypothesis of an association of both angiotensinogen gene polymorphisms with the extent of coronary heart disease.											
137801	Y	combined bone mass	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Sigurdsson G et al. 1997	10497626				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Iceland	KGB	7421	Hs.524368			Journal of internal medicine. 1997 Jun;241(6):501-5	Association of BsmI vitamin-D receptor gene polymorphism with combined bone mass in spine and proximal femur in Icelandic women.		601769	6448	1	1997	 In this selected group of adult Icelandic women the b allele in the vitamin-D receptor gene seems to be associated with high bone mass in the spine and proximal femur.											
131176		premalignant oral lesions and oral squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis|Precancerous Conditions|Disease Progression	1	1q21	MUC1	153424923	153429324		Nitta T et al. 2000	10640953				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			KGB	4582	Hs.89603			Cancer. 2000 Jan;88(2):245-54	Immunohistochemical study of MUC1 mucin in premalignant oral lesions and oral squamous cell carcinoma: association with disease progression mode of invasion and lymph node metastasis.		158340	4614	1	2000	 The results of the current study suggest that determination of MUC1 mucin expression may be a parameter in the diagnosis of premalignant and malignant lesions arising in the oral cavity and that this expression may affect the malignant behavior of OSCC. MUC1 mucin expression may be a useful diagnostic marker for prediction of the invasive/metastatic potential of OSCC.											
119748	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928	0.0051	Lee YJ et al. 2000	10671941	CTLA4 49 G		coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Chinese	China	KGB	1493	Hs.247824			Clinical endocrinology. 2000 Feb;52(2):153-7	Association of CTLA4 gene A-G polymorphism with type 1 diabetes in Chinese children.		123890	1498	1	2000	 This study demonstrates that CTLA4 49 A-G polymorphism is associated with type 1 diabetes in Han Chinese children. The CTLA4 49 G allele confers an increased risk of type 1 diabetes.	Case:253; Control:91										
124728	Y	Bladder Cancer	CANCER	CAN	Tuberculosis|Urinary Bladder Neoplasms|Asthma	22	22q11.23	GSTT1	22706140	22714231		Kim WJ 2000	10840461				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Korean		TJB	2952	Hs.268573			The Journal of urology. 2000 Jul;164(1):209-13	Polymorphisms of N-acetyltransferase 2, glutathione S-transferase mu and theta genes as risk factors of bladder cancer in relation to asthma and tuberculosis.		600436	3035	1	2000	 Among Korean subjects, GSTM1 null genotype was a significant risk factor for bladder cancer. The reason why bronchial asthma and tuberculosis are risk factors in Korean subjects is yet unknown, but a variety of factors, including enzyme activities for detoxification, medication for these diseases and immunological background might be involved.	Case:221; Control:113										
137163	N	squamous cell carcinoma of the tongue	CANCER	CAN	Carcinoma, Squamous Cell|Tongue Neoplasms	17	17p13.1	TP53	7505821	7531642	n	Lingen MW et al. 2000	10862014				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Head & neck. 2000 Jul;22(4):328-35	Overexpression of p53 in squamous cell carcinoma of the tongue in young patients with no known risk factors is not associated with mutations in exons 5-9.		191170	6186	1	2000	 These data suggest that the molecular mechanisms by which the young individuals with no risk factors had altered p53 function in oral squamous cell carcinoma may differ from those of the more typical population of individuals who have this malignancy develop.											
142580	Y	recurrent oral ulcers	OTHER	OTH	Oral Ulcer|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Sun A et al. 2000	10870311	DR3, DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Journal of the Formosan Medical Association. 2000	Strong association of antiepithelial cell antibodies with HLA-DR3 or DR7 phenotype in patients with recurrent oral ulcers.		142857	7945	1	2000	 Because only DR3 or DR7 antigen occurred more frequently in anti-ECA-positive than in anti-ECA-negative ROU patients (p < 0.0007, pc < 0.05, RR = 19.6, etiologic fraction = 0.51), we concluded that the gene coding for DR3 or DR7 antigen may contribute to the presence of anti-ECA in Chinese patients with ROU.											
122674	Y	Branch retinal vein occlusion	OTHER	OTH	Blindness|Retinal Vein Occlusion	11	11p11-q12	F2	46697330	46717631		Peris Martinez C et al. 2000	10887932				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			European journal of ophthalmology. 2000 Apr-Jun;10(2):177-9	Branch retinal vein occlusion associated with the 20210 G-to-A prothrombin variant.		176930	2469	1	2000	 Laboratory tests for coagulopathy, including the PT 20210 A variant, should be added to the examination of patients with central or BRVO, especially if most common risk factors for thrombosis have been excluded.											
128325	N	Asthma. atopy	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	n	Hijazi Z 2000	10899762	C-590T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Kuwaiti Arabs	Kuwait	KCB	3565	Hs.73917			International archives of allergy and immunology. 2000 Jul;122(3):190-4			147780	3636	1	2000	 Our results do not show an association between [C590T] promoter polymorphism of the IL-4 gene and asthma in Kuwaiti Arabs. Our results are in keeping with the reports from the UK and Australian families (no association) but in contrast to the findings from US and Japanese populations (an association reported).											
126685	Y	food and alcohol intake	OTHER	OTH	Obesity	13	13q14-q21	HTR2A	46305513	46368995		Aubert R et al. 2000	10918541				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			International journal of obesity and related metabolic disorders. 2000 Jul;24(7):920-4	5-HT2A receptor gene polymorphism is associated with food and alcohol intake in obese people.		182135	3311	1	2000	 These data indicate that a gene polymorphism may influence food and alcohol intake in overweight humans. This could be explained by the role of the serotonergic system as a determinant of food intake.											
132595	Y	Rieger syndrome	OTHER	OTH	Eye Diseases, Hereditary|Uveal Diseases|Syndrome	4	4q25-q27	PITX2	111758028	111782566		Perveen R et al. 2000	10937553				Paired-like homeodomain transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153427.1			KGB	5308	Hs.643588			Investigative ophthalmology & visual science. 2000 Aug;41(9):2456-60	Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.		601542	4993	1	2000	 There is significant phenotypic variability in patients with PITX2 mutations, both within and between families. Developmental glaucoma is common. The umbilical and dental abnormalities are highly penetrant, define those at risk of carrying mutations in this gene, and guide mutation analysis. In addition, there is a range of other extraocular manifestations.											
133641		cone dystrophy	VISION	VIS	Retinal Degeneration|Night Blindness	12	12q13-q14	RDH5	54400487	54404756		Nakamura M et al. 2000	11053295				Retinol dehydrogenase 5 (11-cis and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002905.2			KGB	5959	Hs.632719			Investigative ophthalmology & visual science. 2000 Nov;41(12):3925-32	A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.		601617	5251	1	2000	 Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene. Cone dystrophy is frequently observed in elderly patients with fundus albipunctatus. The conclusion was reached that the mutations of the RDH5 gene caused a progressive cone dystrophy as well as night blindness.											
130187		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Wu, R. M.  et al. 2001	11171904				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Taiwanese	Taiwan	CDC GDPinfo	4129	Hs.46732			Neurology. 2001 Feb;56(3):375-82	The COMT L allele modifies the association between MAOB polymorphism and PD in Taiwanese.		309860	22812	2	2001	 These results suggest that, in Taiwanese, PD risk is associated with MAOB G intron 13 polymorphism, and this association is augmented in the presence of the COMT(L) genotype, indicating an interaction of these two dopamine-metabolizing enzymes in the pathogenesis of sporadic PD. However, the relatively low frequencies of these combined genotypes in our study necessitates confirmation with a larger sample size.	Control:197 controls matched for age, sex, and birthplace;Case:224 patients with PD										
138938	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Wu, R. M.  et al. 2001	11171904				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Taiwanese	Taiwan	CDC GDPinfo	1312	Hs.370408			Neurology. 2001 Feb;56(3):375-82	The COMT L allele modifies the association between MAOB polymorphism and PD in Taiwanese.		116790	12299	2	2001	 These results suggest that, in Taiwanese, PD risk is associated with MAOB G intron 13 polymorphism, and this association is augmented in the presence of the COMT(L) genotype, indicating an interaction of these two dopamine-metabolizing enzymes in the pathogenesis of sporadic PD. However, the relatively low frequencies of these combined genotypes in our study necessitates confirmation with a larger sample size.	Control:197 controls matched for age, sex, and birthplace;Case:224 patients with PD										
120307	Y	prostate volume/histology endocrine patterns	UNKNOWN	UNK	Prostatic Hyperplasia|Hypertrophy	10	10q24.3	CYP17A1	104580277	104587280		Schatzl, G.  et al. 2001	11248649				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Urology. 2001 Mar;57(3):567-72	Association of vitamin D receptor and 17 hydroxylase gene polymorphisms with benign prostatic hyperplasia and benign prostatic enlargement.		202110	14698	2	2001	 Gene polymorphisms of CYP17 and VDR have no association to prostate volume, clinical parameters, and endocrine parameters in elderly men. The association of CYP17 polymorphism and prostate histology warrants further studies. Assessment of gene polymorphisms might provide new insights into the pathogenesis of benign prostatic hyperplasia and benign prostate enlargement and may hold promise as genetic biomarkers of this disease.	Case:148 elderly men with lower urinary tract symptoms										
135269		diabetes, type 2	METABOLIC	MET	Diabetic Neuropathies|Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 2	21	21q22.1	SOD1	31953805	31963114		Sozmen EY 2001	11440784				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			Y Wang	6647	Hs.443914	Complications		Archives of medical research. 2001 Jul-Aug;32(4):283-7	Catalase/superoxide dismutase (SOD) and catalase/paraoxonase (PON) ratios may implicate poor glycemic control.		147450	5590	1	2001	 The data of this study reveal that enhanced catalase/SOD and catalase /PON ratios that are correlated with HbA1c levels are observed in diabetic patients; thus, these ratios may be used as markers of poor glycemic control and as risk factors in the development of diabetic complications.											
135968	Y	periodontitis	IMMUNE	IMM	Gingival Overgrowth	19	19q13.2	TGFB1	46528490	46551656	0.009	Linden GJ et al. 2001	11453244			coding sequence	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	West European		KGB	7040	Hs.155218			Journal of periodontology. 2001 Jun;72(6):808-14	The influence of transforming growth factor-beta1 gene polymorphisms on the severity of gingival overgrowth associated with concomitant use of cyclosporin A and a calcium channel blocker.		190180	5791	1	2001	 Polymorphisms in the TGF-beta1 gene influence the expression of gingival overgrowth in renal transplant recipients concomitantly treated with cyclosporin and a calcium channel blocker. The polymorphism in the TGF-beta1 gene at codon 25 represented an independent genetic determinant of severe gingival overgrowth in the susceptible subjects studied.	Case:164; Control:247										
133643	Y	fundus albipunctatus	OTHER	OTH	Eye Diseases, Hereditary|Night Blindness	12	12q13-q14	RDH5	54400487	54404756		Driessen CA et al. 2001	11470705				Retinol dehydrogenase 5 (11-cis and 9-cis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002905.2			KGB	5959	Hs.632719			Ophthalmology. 2001 Aug;108(8):1479-84	Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.		601617	5253	1	2001	 On the basis of our observations, it is unlikely that mutations in the 11-cis retinol dehydrogenase gene are associated with other, possibly more severe, retinal pathologic conditions/dystrophies or syndromic diseases in which the retina is also affected.											
132391	N	Diabetic microvascular complications	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 1	5	5q15-q21	PCSK1	95751874	95794708	n	Tarnow L et al. 2001	11477169				proprotein convertase subtilisin/kexin type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000439.3	caucasian		KGB	5122	Hs.78977			Nephrology, dialysis, transplantation. 2001 Aug;16(8):1653-6	Diabetic microvascular complications are not associated with two polymorphisms in the GLUT-1 and PC-1 genes regulating glucose metabolism in Caucasian type 1 diabetic patients.		162150	4904	1	2001	 Neither the PC-1 K121Q nor the GLUT-1 XbaI polymorphism contribute to the genetic susceptibility of diabetic microvascular complications in Danish type 1 diabetic patients.											
118369		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Substance Withdrawal Syndrome	11	11p15.4	CCKBR	6237541	6249933		Okubo T et al. 2001	11513220				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			Journal of studies on alcohol. 2001 Jul;62(4):413-21	Polymorphisms of the CCK CCKAR and CCKBR genes: an association with alcoholism study.		118445	1095	1	2001	 Our data suggest that polymorphisms of the CCK, CCKAR and CCKBR genes do not play a major role in alcohol withdrawal symptoms (even though significant associations were found among polymorphisms at the -388 and -333 loci of the CCKAR gene and hallucinations, the rate was nonsignificant after Bonferroni correction).											
133932	Y	early onset of sudden infant death.	OTHER	OTH	Long QT Syndrome|Sudden Infant Death	3	3p21	SCN5A	38564556	38666167		Wedekind H et al. 2001	11535573				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Circulation. 2001 Sep;104(10):1158-64	De novo mutation in the SCN5A gene associated with early onset of sudden infant death.		600163	5325	1	2001	 In this study, we report a de novo mutation in the sodium channel gene SCN5A, which is associated with sudden infant death. The altered functional characteristics of the mutant channel was different from previously reported LQTS3 mutants and caused a delay in final repolarization. Even in families without a history of LQTS, de novo mutations in cardiac ion channel genes may lead to sudden cardiac death in very young infants.											
115974		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	8	8p12-p11.2	ADRB3	37939672	37943341		Inukai T 2001	11573151				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			Y Wang	155	Hs.2549	Complications		Experimental and clinical endocrinology & diabetes. 2001 ;109(7):386-8	Clinical features of a polymorphism of the beta3-adrenergic receptor gene in patients with type 2 diabetes mellitus--a study using a pin-point sequencing method.		109691	313	1	2001	 The present results suggest that the clinical features of diabetic patients with a missense mutation in the beta(3)AR gene are substantially distinct from those of the wild type patients. These specific features include obesity, hyperinsulinemia, hypertension, and an increase in preperitoneal fat.											
116059	Y	Essential Hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Liu Y 1999	11593574	????			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		China	TJB	183	Hs.19383			Chinese medical journal. 1999 Feb;112(2):115-20			106150	345	1	1999	 D allele of ACE gene might correlate with a predisposing factor for EH. The microsatellite allele of AT1R gene might be linkage disequilibrium with an unidentified variant that contributes to the development of EH. A-20C of AGT gene is not a major genetic determinant of EH.	Case:169; Control:152										
116130		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Wang J 1999	11717948				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese		Y Wang	183	Hs.19383	Complications		Chinese medical journal. 1999 Sep;112(9):797-800	Relationship between angiotensinogen gene M235T variant with diabetic nephropathy in Chinese NIDDM.		106150	416	1	1999	 AGT gene M235T polymorphism is associated with diabetic nephropathy in NIDDM. TT genotype of the AGT gene might be an independent risk factor of diabetic nephropathy in Chinese NIDDM patients.											
136248	Y	familial premature myocardial infarction.	CARDIOVASCULAR	CARD	Coronary Arteriosclerosis|Coronary Stenosis|Myocardial Infarction|Genetic Predisposition to Disease	13	13q14.3	THSD1	51849303	51878321		Topol EJ et al. 2001	11723011				Thrombospondin, type I, domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018676.2		United States	KGB	55901	Hs.325667			Circulation. 2001 Nov;104(22):2641-4	Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction.			6778	1	2001	 This large-scale genetic study has identified the potential of multiple novel variants in the thrombospondin gene family to be associated with familial premature myocardial infarction. Notwithstanding multiple caveats, thrombospondins specifically and high-throughput genomic technology in general deserve further study in familial ischemic heart disease.											
124065	Y	hypertension and left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	12	12p13	GNB3	6819378	6826818	0.01	Semplicini A et al. 2001	11775125			coding sequence	Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	207		KGB	2784	Hs.631657			American journal of hypertension. 2001 Dec;14(12):1191-5	G protein beta3 subunit gene 825T allele is associated with increased left ventricular mass in young subjects with mild hypertension.		139130	2892	1	2001	 In young patients with mild hypertension without heart disease the 825T allele is associated with an increased left ventricular mass index. These hypothesis-generating data suggest that GNB3 825T allele may be considered as one genetic marker predisposing to an increase in left ventricular mass in hypertensives, and justifies larger studies.											
120430		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Shao, G.  et al. 2000	11860825				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua liu xing bing xue za zhi. 2000 Dec;21(6):420-3	[Relationship between CYP1A1, GSTM1 genetic polymorphisms and susceptibility to esophageal squamous cell carcinoma]		108330	9779	2	2000	 It was suggested that: genetic polymorphisms of CYP1A1 and GSTM1 were susceptible to esophageal cancer; individuals who are GSTM1-null have an increased risk of developing esophageal cancer; individuals with combined CYP1A1 (I/I) and GSTM1 (-) or with combined CYP1A1 (I/V, V/V) and GSTM1 (+) were more susceptible, when comparing to those with combined CYP1A1 (I/I) and GSTM1 (+).	Case:107 esophageal cancer patients;Control:111 healthy controls										
140321		Improved survival in sepsis	IMMUNE	IMM	Sepsis|Critical Illness	7	7p21	IL6	22733322	22738141	0.008	Schluter B 2002	11902285	IL6 G(-174)C. GG homozygotes			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	50 sepsis pts		KGB	3569	Hs.512234			Critical care medicine. 2002 Jan;30(1):32-7			147620	7163	1	2002	 The IL-6 promoter polymorphism (-174 G/C) does not affect the incidence of sepsis. However, the GG homozygous genotype is significantly associated with an improved survival in sepsis. Because this association is independent from the systemic IL-6 response, we suggest that other genetically linked polymorphisms may be the primary cause.											
120721	N	diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	12	12q13.1-q13.3	CYP27B1	56442383	56447243	n	Pani MA et al. 2002	12039697				Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3	Caucasian		Y Wang	1594	Hs.524528			European journal of endocrinology. 2002 Jun;146(6):777-81	Vitamin D 1alpha-hydroxylase (CYP1alpha) polymorphism in Graves' disease,Hashimoto's thyroiditis and type 1 diabetes mellitus.		264700	1719	1	2002	 The CYP1alpha intron 6 polymorphism appears not to be associated with type 1 diabetes mellitus, Graves' disease and Hashimoto's thyroiditis. A potential association in subsets of patients with type 1 diabetes and Hashimoto's thyroiditis should be further investigated as well as its functional implications.											
116124	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Wang JH et al. 2002	12051013				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Taiwan	KGB	183	Hs.19383			Journal of the Formosan Medical Association. 2002 Mar;101(3):183-8	Association between molecular variants of the angiotensinogen gene and hypertension in Amis tribes of eastern Taiwan.		106150	410	1	2002	 The prevalences of the 235T and -6A variants of the AGT gene in the Amis tribes of eastern Taiwan are high and are significantly associated with hypertension, whereas the 174M variant is not. The haplotype combining the 235T and -6A variants is also associated with hypertension. The prevalences of the 235T allele and -6A allele in this study and other studies in ethnic Chinese subjects are higher than those in Japanese.											
131875	N	IgA nephropathy	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	16	16q22.1	NQO1	68300804	68318034	n	Wolf G et al. 2002	12147803				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Germany	KGB	1728	Hs.406515			Nephrology, dialysis, transplantation. 2002 Aug;17(8):1509-12	No association between a genetic variant of the p22(phox) component of NAD(P)H oxidase and the incidence and progression of IgA nephropathy.		125860	2065	1	2002	 It appears that the C242T polymorphism is not associated with IgA nephropathy or active lupus nephritis and may not affect the progressive deterioration of renal function in patients with IgA nephropathy. However, whether the C242T polymorphism plays a role in other renal diseases remains to be studied.											
135890	Y	autosomal dominant hearing loss	OTHER	OTH	Deafness|Chromosome Aberrations	11	11q22-q24	TECTA	120478584	120566725		Iwasaki S et al. 2002	12162770				Tectorin alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005422.1			KGB	7007	Hs.248162			Archives of otolaryngology--head & neck surgery. 2002 Aug;128(8):913-7	Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.		602574	5762	1	2002	 All 4 affected members showed symmetrical and stable bilateral mild to moderate hearing impairment in the midfrequencies. The mean threshold level of 2000 Hz was the worst among the 5 frequencies. All the affected members had normal vestibular function. The mutation in the TECTA gene, localized in the zona pellucida domain, was detected in all 4 affected individuals. The localization of the mutation in the different modules of the protein may have caused the different clinical features.											
135879		vascular disease	METABOLIC	MET	Vascular Diseases	22	22q12.2	TCN2	29333160	29353047		Lievers KJ et al. 2002	12194912				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			KGB	6948	Hs.417948			Clinical chemistry. 2002 Sep;48(9):1383-9	Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.		275350	5746	1	2002	 In individuals in the highest quartile of the vitamin B(12) distribution (>299 pmol/L), tHcy concentrations are lower in 259PP homozygotes than in 259PR and 259RR individuals. Therefore, 259PP individuals, who represent >25% of the general population, may be more susceptible to reduction of plasma tHcy concentrations by increasing the vitamin B(12) status.											
137750	Y	lumbar disc disease	OTHER	OTH	Intervertebral Disk Displacement	12	12q12-q14	VDR	46521586	46585081		Kawaguchi Y et al. 2002	12429765				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of bone and joint surgery American volume. 2002 Nov;84-A(11):2022-8	The association of lumbar disc disease with vitamin-D receptor gene polymorphism.		601769	6395	1	2002	 This study revealed that the Tt allele of the vitamin-D receptor gene was more frequently associated with multilevel and severe disc degeneration and disc herniation than was the TT allele, pointing to an increased risk of disc disease at an early age in subjects with the Tt allele in the vitamin-D receptor gene.											
138351	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Disease Progression|Genetic Predisposition to Disease	9	9q22	ALDRL2				Yamamoto T et al. 2003	12542725				aldehyde reductase (aldose reductase)-like 2		Japanese		KGB	233				Diabetes, obesity & metabolism. 2003 Jan;5(1):51-7	Aldose reductase gene polymorphism is associated with progression of diabetic nephropathy in Japanese patients with type 1 diabetes mellitus.			490	1	2003	 Homozygosity for the Z+2 allele was associated with accelerated early progression of diabetic nephropathy in Japanese type 1 diabetic patients.											
142264	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction			APOA				Holmer SR et al. 2003	12578871							Germany	KGB					Circulation. 2003 Feb;107(5):696-701	Association of polymorphisms of the apolipoprotein(a) gene with lipoprotein(a) levels and myocardial infarction.			7613	1	2003	 The K4 and PN repeat polymorphisms largely explain the high variability of serum Lp(a) levels. A haplotype with <or=8 PN and <or=22 K4 repeats is characterized by high concentrations of small Lp(a) particles. Our observation that this haplotype was associated with MI independently of Lp(a) serum levels may suggest that Lp(a) particle size in addition to its concentration may modulate MI risk in women.											
142211	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	STH	41432482	41432869	n	Streffer JR et al. 2003	12588928				saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY179170		Greece|Switzerland	KGB	246744	Hs.569810			Journal of neurology, neurosurgery, and psychiatry. 2003 Mar;74(3):362-3	Saitohin gene is not associated with Alzheimer's disease.		607067	6867	1	2003	 No evidence was found for an association of the non-synonymous polymorphism (Q7R) in STH and Alzheimer's disease. This finding is in line with earlier studies showing no association between MAPT and Alzheimer's disease.											
118621	Y	asthma	IMMUNE	IMM	Asthma|Respiratory Sounds	3	3p21	CCR5	46387429	46392701	0.006	Srivastava P 2003	12612298				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KEW	1234	Hs.450802	reduced risk of childhood asthma		Thorax. 2003 Mar;58(3):222-6			601373	1312	1	2003	 In a population with a high allelic frequency for the CCR5Delta32 mutation, a significant protection against childhood asthma is evident which is independent of atopy. This protection is lost in the transition between childhood and early adulthood. The contribution of different genetic candidates to the expression of asthma may change with advancing maturity and confound the interpretation of association and linkage studies unless age is taken into account.											
133529	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q31-q32	PTPRC	196874759	196993168		Nicholas RS 2003	12810785				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838		Great Britain	KGB	5788	Hs.192039			Journal of neurology, neurosurgery, and psychiatry. 2003 Jul;74(7):944-5	The role of the PTPRC (CD45) mutation in the development of multiple sclerosis in the North West region of the United Kingdom.		151460	5237	1	2003	 This candidate does not appear to influence the development of familial multiple sclerosis in this population. The negative result could arise from a type II error owing to the number of families and non-familial cases screened. Alternatively it might suggest that the contribution of the PTPRC mutation depends upon the genetic background.											
115869		decline in lung function	OTHER	OTH	Asthma|Bronchial Hyperreactivity|Lung Diseases	5	5q31-q32	ADRB2	148186348	148188381		Joos L 2003	12885990				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251	smokers		Thorax. 2003 Aug;58(8):703-7	Polymorphisms in the beta2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness~~~ and rate of decline in lung function in smokers.		109690	261	1	2003	 Heterozygosity at position 27 may be protective against an accelerated rate of decline in lung function. The polymorphism at position 16 does not contribute to the rate of decline in lung function, measures of NSBH, or BDR in smokers.											
133317		Alzheimer's disease; attention deficit disorder; conduct disorder; oppositional defiant disorder; dementia, frontotemporal	NEUROLOGICAL	NEUR	Tourette Syndrome|Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Ezquerra, M.  et al. 2003	12925374				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDPinfo	5663	Hs.592324			Archives of neurology. 2003 Aug;60(8):1149-51	A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease		104311	25468	2	2003	 We have found a novel mutation in the PSEN2 gene in a family with early-onset Alzheimer disease. The variation in the age at onset confirms that PSEN2 mutations are associated with variable clinical expression.	Cohort 130 control individuals 										
131141		heart failure	CARDIOVASCULAR	CARD	Heart Failure, Congestive	7	7q33	MTPN	135262048	135312604		O'Brien RJ 2003	12932609				Myotrophin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145808.1			KGB	136319	Hs.43297			Journal of the American College of Cardiology. 2003 Aug;42(4):719-25	Myotrophin in human heart failure.		606484	6863	1	2003	 There is evidence of early activation of the myotrophin system in HF, which is more evident in males. This response is attenuated in more severe disease. The contribution of myotrophin to NFkappaB-mediated gene transcription and preservation of cardiac muscle mass remains to be investigated further.											
117579		response to antihypertensive therapy.	OTHER	OTH	Hypertrophy, Left Ventricular|Hypertension	5	5q15	ARTS-1	96122269	96297269		Hallberg P 2003	13678427				Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016442.3			KGB	51752	Hs.436186			BMC cardiovascular disorders [electronic resource]. 2003 Sep;3:11	Adipocyte-derived leucine aminopeptidase genotype and response to antihypertensive therapy.			6766	1	2003	 The ALAP genotype seems to determine the degree of regression of left ventricular hypertrophy during antihypertensive treatment with the angiotensin II type I receptor antagonist irbesartan in patients with essential hypertension and left ventricular hypertrophy. This is the first report of a role for ALAP/aminopeptidases in left ventricular mass regulation, and suggests a new potential target for antihypertensive drugs.											
122430	Y	prostate carcinoma	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Suzuki K 2003	14508827				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese	Japan	KGB	2099	Hs.208124			Cancer. 2003 Oct;98(7):1411-6	Genetic polymorphisms of estrogen receptor alpha, CYP19~~~ catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population.		133430	2421	1	2003	 Genetic polymorphisms of genes in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.											
125237		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Kinouchi Y 2003	14530653				major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese	Japan	KGB	3106	Hs.77961			Diseases of the colon and rectum. 2003 Oct;46(10 Suppl):S10-4	Hla-B genotype in Japanese patients with Crohn's disease.		142830	3122	1	2003	 These results demonstrated that HLA-B did not confer overall susceptibility to Crohn's disease in Japan, but the B*52 allele may affect the location of the disease.											
138240		smoking	CANCER	CAN	Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Wang Y 2003	14534887				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	minority		KGB	7517	Hs.592325			Cancer. 2003 Oct;98(8):1701-6	XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations.		600675	6542	1	2003	 The XRCC3 polymorphism appeared to be associated with increased risk of lung carcinoma in certain subgroups. It is plausible that the association is very heavily dependent on the degree of smoking. Further studies with larger sample sizes will be necessary to confirm these findings.											
138726	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429	n	Hirashiki A 2003	14563588	190G3A (Val64Ile)			CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese	Japan	KGB	1231	Hs.644637			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		601267	6891	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
132204		open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Alward WL 2003	14597044				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			KGB	10133	Hs.332706			American journal of ophthalmology. 2003 Nov;136(5):904-10	Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.		602432	6652	1	2003	 This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma. However, because familial normal-tension glaucoma is so rare, this change seems to be responsible for less than 0.1% of all open-angle glaucoma. The Arg545Gln variation is likely to be a nondisease-causing polymorphism. The Met98Lys change may be associated with a fraction of normal-tension glaucoma in patients of Japanese ethnicity.											
135819	Y	Familial liver adenomatosis	OTHER	OTH	Adenoma|Liver Neoplasms|Neoplastic Syndromes, Hereditary	12	12q22-qter	TCF1	119900931	119924697		Bacq Y 2003	14598263				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			KGB	6927	Hs.567343			Gastroenterology. 2003 Nov;125(5):1470-5	Familial liver adenomatosis associated with hepatocyte nuclear factor 1alpha inactivation.		142410	5732	1	2003	 This study describes familial liver adenomatosis and shows the association with germline HNF-1alpha mutations in adults and children. It also highlights the importance of screening for hepatocellular adenomas, diabetes, and HNF-1alpha germline mutations in relatives of patients with liver adenomatosis. Finally, prevalence of liver adenomatosis remains to be evaluated in MODY3 subjects.											
122427	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction	6	6q25.1	ESR1	152053407	152466099		Shearman AM 2003	14600184				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			JAMA. 2003 Nov;290(17):2263-70	Association between estrogen receptor alpha gene variation and cardiovascular disease.		133430	2418	1	2003	 Individuals with the common ESR1 c.454-397CC genotype have a substantial increase in risk of MI. Whether ESR1 c.454-397T>C is causally related to MI risk or in linkage disequilibrium with 1 or more causal variants remains to be determined. These findings support the importance of estrogen receptors in CVD susceptibility, especially in men. Estrogen receptor variation also has potential to explain recent conflicting data regarding the effects of hormone therapy on CVD susceptibility in women.											
135289	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Yen JH 2003	14611903				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Taiwanese		Y Wang	6648	Hs.487046			Immunology letters. 2003 Nov;90(1):19-24	Cytochrome P450 and manganese superoxide dismutase genes polymorphisms in systemic lupus erythematosus.		147460	5598	1	2003	 CYP1A1 4887A may be a precipitating factor for the development of SLE. It also tended to be associated with the occurrence of renal involvement in SLE patients. A synergistic effect was found between CYP1A1 4887C/A and Mn SOD 1183T/T on the susceptibility to SLE.	Case:90; Control:94										
118140	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease|Body Weight|	16	16p12-q21	CARD15	49288551	49324488		Tomer G 2003	14638352				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			The American journal of gastroenterology. 2003 Nov;98(11):2479-84	NOD2/CARD15 variants are associated with lower weight at diagnosis in children with Crohn's disease.		605956	6818	1	2003	 Our results demonstrate that: 1) the three NOD2/CARD15 variants confer risk to CD in children; 2) NOD2/CARD15 variants are associated with ileal disease in children as in adults; and 3) NOD2/CARD15 variants are associated with lower weight percentiles at diagnosis in children and a tendency toward lower height percentile, suggesting an association between growth in children with CD.											
122952	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	X	Xq28	F8	153717257	153904192		Hefler L 2004	14706682	V34L			Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			KGB	2157	Hs.632836	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		306700	2525	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.											
140787		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546		Ezquerra M 2004	14707330			3' untranslated	Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Journal of neurology, neurosurgery, and psychiatry. 2004 Jan;75(1):155-7	Sequence analysis of tau 3'untranslated region and saitohin gene in sporadic progressive supranuclear palsy.		157140	7311	1	2004	 Our results do not support a major role for the tau 3'UTR in PSP genetics. The QQ genotype of STH confers susceptibility for PSP and is in linkage disequilibrium with the H1/H1 haplotype.											
133795		retinitis punctata albescens	OTHER	OTH	Retinitis Pigmentosa|Night Blindness	15	15q26	RLBP1	87554101	87565926		Fishman GA 2004	14718298				Retinaldehyde binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000326.3			KGB	6017	Hs.1933			Archives of ophthalmology. 2004 Jan;122(1):70-5	Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.		180090	5287	1	2004	 The identification of novel RLBP1 mutations in 1 of our 3 probands, all with RPA, is further evidence of genetic (nonallelic) heterogeneity in this disease. The presence of round white deposits in the retina may be observed in those heterozygous for RLBP1.Clinical Relevance Patients with a clinical presentation of RPA can have genetically different mutations. Drusen-like lesions may be observed in heterozygotes in families with this disease and a mutation in RLBP1.											
133861		malignant hyperthermia	OTHER	OTH	Myopathies, Nemaline|Myopathy, Central Core|Genetic Predisposition to Disease|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Guis S 2004	14732627				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1			KGB	6261	Hs.466664			Archives of neurology. 2004 Jan;61(1):106-13	Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.		180901	5310	1	2004	 These results indicate that multiminicore lesions are observed in MHS patients with neither clinical signs related to multiminicore disease nor histological features of congenital myopathies. These multiminicore lesions may be secondary to mutations in the RYR1 gene. As a consequence, these patients must be distinguished from patients with multiminicore disease and from other MHS patients for whom multiminicores are not observed.	Case:29										
130950		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	1	1q22	MPZ	159541150	159546377		Santoro L 2004	14742601				Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000530.4	Italian		KGB	4359	Hs.591486			Journal of neurology, neurosurgery, and psychiatry. 2004 Feb;75(2):262-5	A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.		159440	4589	1	2004	 The identification of Asp109Glu mutation confirms the pivotal role of P0 in axonal neuropathies and stresses the phenotypic heterogeneity associated with MPZ mutations. This study suggests the value of screening for MPZ mutations in CMT family members with minor clinical and electrophysiological signs of peripheral neuropathy.											
134498		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Viremia|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Romero-Gomez M 2004	14960532			5' promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	caucasian		KGB	6556	Hs.591607			Gut. 2004 Mar;53(3):446-50	SLC11A1 promoter gene polymorphisms and fibrosis progression in chronic hepatitis C.		600266	5560	1	2004	 SLC11A1 gene promoter polymorphism could influence fibrosis progression in chronic hepatitis C in that the homozygous genotype 2/2 exerts a protective effect against cirrhosis development. Also, the combination of TNF -238 A/G and the presence of allele 3 is conducive to progression to pre-cirrhotic or cirrhotic stages of the disease.											
119096		atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q21	CETP	55553262	55575257		Klerkx AH 2004	14984434				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			European journal of clinical investigation. 2004 Jan;34(1):21-8	Cholesteryl ester transfer protein concentration is associated with progression of atherosclerosis and response to pravastatin in men with coronary artery disease (REGRESS).		118470	1228	1	2004	 High CETP concentration is associated with faster progression of coronary atherosclerosis in men with proven CAD. Second, pravastatin yielded the highest improvement of lipid and angiographic parameters in patients with high baseline CETP independent of baseline lipids, lipid changes and TaqIB genotype, indicating that the plasma CETP level itself is an important determinant of the response to statins.											
135651		gelatinous droplike corneal dystrophy	OTHER	OTH	Corneal Dystrophies, Hereditary	1	1p32-p31	TACSTD2	58813230	58816033		Tian X 2004	15013888	Q118X and Y184C			Tumor-associated calcium signal transducer 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002353.1	Chinese		KGB	4070	Hs.23582			American journal of ophthalmology. 2004 Mar;137(3):567-9	Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.		137290	4406	1	2004	 This is the first genetic analysis of a Chinese patient with GDLD. Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient.	Case:1; Control:50										
119636		autosomal dominant coral-like cataract	OTHER	OTH	Cataract	2	2q33-q35	CRYGD	208694576	208697458		Mackay DS 2004	15041957				Crystallin, gamma D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006891.2	caucasian		KGB	1421	Hs.546247			Molecular vision [electronic resource]. 2004 Mar;10:155-62	A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant coral-like cataract linked to chromosome 2q.		123690	1422	1	2004	 This study has identified an eighth type of cataract morphology associated with CRYGD and suggests that a CRYGD mutation may underlie the historically important coralliform cataract first reported in 1895.											
114568		fatal surfactant deficiency	CARDIOVASCULAR	CARD	Respiratory Distress Syndrome, Newborn	16	16p13.3	ABCA3	2265879	2330748		Shulenin S 2004	15044640				ATP-binding cassette, sub-family A (ABC1), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001089.1			KGB	21	Hs.26630			The New England journal of medicine. 2004 Mar;350(13):1296-303	ABCA3 gene mutations in newborns with fatal surfactant deficiency.		601615	89	1	2004	 Mutation of the ABCA3 gene causes fatal surfactant deficiency in newborns. ABCA3 is critical for the proper formation of lamellar bodies and surfactant function and may also be important for lung function in other pulmonary diseases. Since it is closely related to ABCA1 and ABCA4, proteins that transport phospholipids in macrophages and photoreceptor cells, it may have a role in surfactant phospholipid metabolism.											
118149		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Ileal Diseases|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Esters N 2004	15046221				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1		Belgium	KGB	64127	Hs.592072			The American journal of gastroenterology. 2004 Feb;99(2):299-305	Transmission of CARD15 (NOD2) variants within families of patients with inflammatory bowel disease.		605956	6827	1	2004	 Maternal transmission of the CARD15 variant allele is associated with a lower proportion of affected individuals compared to paternal transmission. Therefore, maternal transmission does not carry an increased risk of transmission as does paternal transmission. The increased mutation carriage in unaffected siblings of CD patients and in UC patients belonging to mixed families suggests that other factors than CARD15 contribute to the eventual disease expression.											
136003		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	19	19q13.2	TGFB1	46528490	46551656		Hallberg P 2004	15049387				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Sweden	KGB	7040	Hs.155218			Clinical cardiology. 2004 Mar;27(3):169-73	Transforming growth factor beta1 genotype and change in left ventricular mass during antihypertensive treatment--results from the Swedish Irbesartan Left Ventricular Hypertrophy Investigation versus Atenolol (SILVHIA).		190180	5826	1	2004	 The TGF-beta1 G + 915C polymorphism is related to the change in LVMI in response to antihypertensive treatment with the AT1-receptor antagonist irbesartan.											
121475		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091		Huang SY 2004	15084894				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Alcoholism, clinical and experimental research. 2004 Mar;28(3):374-84	Possible interaction of alcohol dehydrogenase and aldehyde dehydrogenase genes with the dopamine D2 receptor gene in anxiety-depressive alcohol dependence.		126450	2175	1	2004	 ANX/DEP ALC is a specific subtype of alcohol dependence. Because ANX/DEP ALC was associated with the DRD2 gene only under the stratification of ADH1B*1/*2 or ALDH2*1/*1, the DRD2 gene might interact with the ADH1B gene and the ALDH2 gene, respectively, in the development of ANX/DEP ALC in the Taiwan Han Chinese population.											
129270		diabetes	METABOLIC	MET	Epilepsy|Diabetes Mellitus|Developmental Disabilities	11	11p15.1	KCNJ11	17363371	17367440		Gloyn AL 2004	15115830				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			KGB	3767	Hs.248141			The New England journal of medicine. 2004 Apr;350(18):1838-49	Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.		600937	4144	1	2004	 Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy. Identification of the genetic cause of permanent neonatal diabetes may facilitate the treatment of this disease with sulfonylureas.											
129717		metabolism disorders	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperglycemia|Hyperinsulinism|Insulin Resistance|Metabolic Syndrome X|Hypertriglyceridemia|Obesity|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Steinle, N. I.  et al. 2004	15205219				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1		Pennsylvania	CDC GDPinfo	4000	Hs.491359			Arteriosclerosis, thrombosis, and vascular biology. 2004 Sep;24(9):1708-13	Variation in the Lamin A/C Gene. Associations With Metabolic Syndrome		150330	18057	2	2004	 Sequence variation in LMNA may confer modest susceptibility for development of metabolic syndrome and dyslipidemia in the Amish. To determine whether polymorphisms in LMNA influence susceptibility to metabolic syndrome and its constituent components, we performed DNA analysis of polymorphisms in LMNA. The H566H polymorphism was associated with metabolic syndrome and also higher mean fasting triglyceride and lower mean HDL-cholesterol concentrations in the Old Order Amish.	Control normoglycemic controls;Case participants with T2DM or impaired glucose homeostasis from the Amish Family Diabetes Study										
136535	N	acute GVHD	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	TNF	31651328	31654091	n	Kogler G et al. 2002	12438965				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Transplantation. 2002 Oct;74(8):1167-75	Recipient cytokine genotypes for TNF-alpha and IL-10 and the minor histocompatibility antigens HY and CD31 codon 125 are not associated with occurrence or severity of acute GVHD in unrelated cord blood transplantation: a retrospective analysis.		191160	6011	1	2002	 In contrast to HLA-identical sibling bone marrow transplantation, in mismatched unrelated CBT, neither the cytokine genotypes TNFd3/d3 alone or in combination with IL-10(-1064) alleles nor the minor histocompatibility antigens HY, HA-1, and CD31 exon 125 were associated with aGvHD grades II to IV. Further determination of the cytokine gene polymorphism genotypes in CBTs compared with bone marrow transplants may identify those polymorphisms that could be potential predictive markers for the occurrence of aGvHD.											
130421		Familial Mediterranean Fever; hyper-IgD syndrome	IMMUNE	IMM	Autoimmune Diseases|Familial Mediterranean Fever|Syndrome|Inflammation	16	16p13.3	MEFV	3232028	3246628		Simon, A.  et al. 2005	16234278				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDPinfo	4210	Hs.632221			Rheumatology (Oxford, England). 2005	Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.		608107	22848	2	2005	 Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.											
132456		schizophrenia; bipolar disorder	PSYCH	PSY	Bipolar Disorder|Schizophrenia	4	4q22	PDLIM5	95592060	95808400		Kato, T.  et al. 2005	16044170				PDZ and LIM domain 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001011513.1			CDC GDPinfo	10611	Hs.480311			Molecular psychiatry. 2005 Nov;10(11):1045-55	Gene expression and association analyses of LIM (PDLIM5) in bipolar disorder and schizophrenia.			18880	2	2005	Genetic association study revealed the association of single nucleotide polymorphism (SNP)1 (rs10008257) with bipolar disorder. In an independent sample set, SNP2 (rs2433320) close to SNP1 was associated with bipolar disorder. In total samples, haplotype of these two SNPs was associated with bipolar disorder. No association was observed in case-control analysis and family-based association analysis in schizophrenia. These results suggest that SNPs in the upstream region of LIM may confer the genetic risk for bipolar disorder.											
136011	Y	early onset ischemic heart disease.	CARDIOVASCULAR	CARD	Myocardial Ischemia	19	19q13.2	TGFB	46528490	46551656		Biggart S et al. 1998	9825196				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812			KGB	7040	Hs.1103			Clinical cardiology. 1998 Nov;21(11):831-6	Association of genetic polymorphisms in the ACE ApoE and TGF beta genes with early onset ischemic heart disease.			5834	1	1998	 The frequency of the ACE D allele was significantly lower in the patient group (0.475) than in the control group (0.59, p = 0.03), which was attributed to a reduction in the number of patients with the DD genotype (patients: 24% DD, controls: 33% DD). Sudden cardiac death was also associated with the DD genotype. These data are consistent with the ACE D allele contributing to a fatal outcome. No association between the DD genotype and risk of myocardial infarction, presenting age, extent of vessel disease, family history, hypertension, or hypercholesterolemia was seen. Analysis of the ApoE genotype showed no association with early onset IHD. There was no evidence for a synergistic effect between the ACE and ApoE genotypes on the risk of early onset IHD. A polymorphism in the TGF beta 2 gene was rare and not associated with early onset IHD.											
120652	N	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Wen, W.  et al. 2005	15734954				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Chinese		CDC GDPinfo	1545	Hs.154654			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):329-35	Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: resultsfrom the shanghai breast cancer study and a meta-analysis.		601771	20959	2	2005	To summarize the findings from this and previous studies. Included in this study were 1,135 incident breast cancer cases diagnosed from August 1996 through March 1998 among female residents of Shanghai and 1,235 randomly selected, age frequency-matched controls from the same general population. The common alleles of the CYP1B1 gene were Arg (79.97%) in codon 48, Ala (80.53%) in codon 119, and Leu (86.57%) in codon 432. The Val allele accounted for 72.46% of the total alleles identified in codon 108/158 of the COMT gene. No overall associations of breast cancer risk were found with any of the single nucleotide polymorphisms described above. This finding was supported by a meta-analysis of all previous published studies. No gene-gene interactions were observed between CYP1B1 and COMT genotypes. The associations of breast cancer risk with factors related to endogenous estrogen exposure, such as years of menstruation and body mass index, were not significantly modified by the CYP1B1 and COMT genotypes. We observed, however, that women who carried one copy of the variant allele in CYP1B1 codons 48 or 119 were less likely to have estrogen receptor-positive breast cancer than those who carried two copies of the corresponding wild-type alleles. The results from this study were consistent with those from most previous studies, indicating no major associations of breast cancer risk with CYP1B1 and COMT polymorphisms.	Case:1,135 incident breast cancer cases:Shanghai, China:Aug, 1996 - Mar, 1998;Control:1,235 randomly selected, age frequency-matched controls from the same general population	body mass menstruation									
130906		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Kiyohara, C.  et al. 2005	16170238				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Genetics in medicine. 2005 Sep;7(7):463-78	NQO1, MPO, and the risk of lung cancer: a HuGEreview.		606989	18699	2	2005	As lung cancer is a multifactorial disease, an improved understanding of such interactions may help identify individuals at risk for developing lung cancer. Such a study should include larger sample size and other polymorphisms in the metabolism of tobacco-derived carcinogens and address interactions with smoking status. The effects of polymorphisms are best represented by their haplotypes. In future studies on lung cancer, the development of haplotype-based approaches will facilitate the evaluation of haplotypic effects, either for selected polymorphisms physically close to each other or for multiple genes within the same drug-metabolism pathway.		smoking (tobacco)	NQO1		MPO				Y	smoking (tobacco)	lung cancer
137208		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Neoplasm Recurrence, Local	17	17p13.1	TP53	7505821	7531642		Prendergast NJ et al. 1996	8627854				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			The Journal of urology. 1996 May;155(5):1685-92	p53 immunohistochemical and genetic alterations are associated at high incidence with post-irradiated locally persistent prostate carcinoma.		191170	6231	1	1996	 p53 Alteration in localized prostatic carcinoma is uncommon. Our study confirms others in that even aggressive locally advanced nonirradiated primaries (stage TxN+MO) contain only 20% incidence of p53 alterations. However, our study demonstrates that p53 alterations are found in the preponderant majority of post-radiation locally recurrent prostatic carcinoma specimens. Limited evaluation of pretreatment prostatic carcinoma biopsies uniformly documented the presence of p53 alterations before ionizing radiation, thereby demonstrating that p53 alteration was already present and was not radiation-induced or only correlated with late stage disease. This finding suggests a potential for p53 immunoreactivity to be used as a pretreatment marker that might predict local treatment failure with ionizing radiation. Large scale prospective trials would appear warranted to evaluate conclusively the potential prognostic applicability of p53 pre-screening before enrollment in definitive radiotherapy.											
126680		personality traits, Impulsivity	PSYCH	PSY	Alcoholism|Impulse Control Disorders|Personality Disorders	13	13q14-q21	HTR2A	46305513	46368995	0.02	Preuss UW et al. 2001	11287798			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Alcohol-dependent subjects		KGB	3356	Hs.72630	Impulsive behavior		Neuropsychobiology. 2001 ;43(3):186-91	Impulsive traits and 5-HT2A receptor promoter polymorphism in alcohol dependents: possible association but no influence of personality disorders.		182135	3306	1	2001	 Inpatient alcohol dependents showed a significant association between 5-HT2A A alleles and impulsive traits, independent of the presence of APD or BPD. No association was noted between personality disorders and the polymorphism. This is the first report about an association of 5-HT2A promoter polymorphism and impulsive behavior in alcohol dependents. This finding may refer only to impulsive traits and may be independent of personality disorders in this sample. These results have to be confirmed in larger samples and in healthy control subjects to determine whether this association is of general validity.	Case:135										
137582	Y	Overfeeding	OTHER	OTH	Obesity	4	4q28-q31	UCP1	141700499	141709457		Ukkola O 2001	11641751	Bcl I			Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			TJB	7350	Hs.249211			European journal of clinical nutrition. 2001 Nov;55(11):1008-15			113730	6325	1	2001	 These data suggest that UCP polymorphisms may play a role in the recovery from the overfeeding by regulating substrate oxidation in response to long-term caloric surplus. The association of the UCP2 A55V and UCP3 Rsa I CC genotypes with a greater increase in the TSH response to TRH load could reflect a compensatory mechanism counteracting the effects of overfeeding. A longer period of exposure to chronic positive energy balance conditions may be necessary before sequence variation in UCP2 and UCP3 makes an impact on thyroid metabolism to influence body mass and composition changes.											
123059		Bloom syndrome; Fanconi's anemia	OTHER	OTH	Fanconi Anemia|Bloom Syndrome	9	9q22.3	FANCC	96901156	97119812		Peleg, L.  et al. 2002	11876000				Fanconi anemia, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000136.2		Israel	CDC GDPinfo	2176	Hs.494529			The Israel Medical Association journal. 2002 Feb;4(2):95-7	Bloom syndrome and Fanconi's anemia: rate andethnic origin of mutation carriers in Israel.		227645	21390	2	2002	 These findings as well as the absence of the mutations in non-Ashkenazi Jews suggest that: a) the mutations originated in the Israelite population that was exiled from Palestine by the Roman Empire in 70 AD and settled in Europe (Ashkenazi), in contrast to those who remained; and b) the difference in origin distribution of the BS and FACC mutations can be explained by either a secondary migration of a subgroup with a subsequent genetic drift, or a separate geographic region of introduction for each mutation.	Cohort 950 anonymous non-Ashkenazi Jews 										
121975		familial age-related macular degeneration	VISION	VIS	Macular Degeneration|Retinal Drusen	2	2p16	EFEMP1	55946605	56004436		Guymer RH et al. 2002	12427233				EGF-containing fibulin-like extracellular matrix protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004105.3			KGB	2202	Hs.76224			Clinical & experimental ophthalmology. 2002 Dec;30(6):419-23	Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.		601548	2573	1	2002	 The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration. These findings do not exclude the involvement of other alleles of the EFEMP1 gene in either phenotype. The genetic mechanisms involved in the heterogeneous group of early onset drusen remain to be elucidated but should lead to insights into the genetic causes of macular diseases.											
121799		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		DiMaio, S.  et al. 2003	12587848				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Journal of psychiatry & neuroscience. 2003 Jan;28(1):27-38	Dopamine genes and attention-deficit hyperactivity disorder: a review.		126452	16395	2	2003	 The implication of SLC6A3 and DRD4 genes in ADHD appears to be one of the most replicated in psychiatric genetics and strongly suggests the involvement of the brain dopamine systems in the pathogenesis of ADHD. However, more work is required to further these findings by genotype-to-phenotype correlations and identify the functional allelic variants/mutations that are responsible for these associations. The role of other dopamine genes, which may have smaller effects than SLC6A3 and DRD4, needs also to be determined.											
123575		gastritis, chronic atrophic	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	19	19p13.3	FUT3	5793901	5802482		Shibata, A.  et al. 2003	12673421				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1		Japan	CDC GDPinfo	2525	Hs.169238			Gastric cancer. 2003 ;6(1):16-Aug	ABO blood type, Lewis and Secretor genotypes, and chronic atrophic gastritis: a cross-sectional studyin Japan.		111100	24459	2	2003	 the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation. Background: the h type i structure, synthesized by the secretor (se) enzyme in gastric foveolar cells, and its metabolite, lewis b (le(b)) antigen, mediate the adhesion of helicobacter pylori ( h. Pylori) to the gastric epithelium, whereas h. Pylori does not bind to modified forms of le(b) specific for blood types a and b. Such host factors as le and se genotypes and abo blood type may affect the establishment of h. Pylori infection and, once infected, the risk of chronic atrophic gastritis. Methods: we investigated the cross-sectional relation of abo blood type and le and se genotypes to gastric atrophy, assessed by serum pepsinogen levels, in japanese residents from two sources. Results: among the 151 h. Pylori-positive participants of the h. Pylori eradication program, odds ratios (ors) for gastric atrophy, adjusted for age, sex, and smoking, were elevated for blood types a (or = 5.35; 95% confidence interval (ci), 2.11-13.58) and b (or = 4.79; 95% ci, 1.77-12.93) relative to type o. Ors for blood types a and b were also elevated in h. Pylori-negative subjects. These associations were not observed among 250 h. Pylori-positive health check-up examinees. The le genotype was not associated with gastric atrophy in either study population. The se/ se genotype was associated with statistically nonsignificant elevation of gastric atrophy risk in both populations. Conclusions: the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation.	Cohort Japanese residents from two sources 	Helicobacter pylori smoking (tobacco)									
123563		gastritis, chronic atrophic	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	19	19q13.3	FUT2	53891049	53901019		Shibata, A.  et al. 2003	12673421				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3		Japan	CDC GDPinfo	2524	Hs.579928			Gastric cancer. 2003 ;6(1):16-Aug	ABO blood type, Lewis and Secretor genotypes, and chronic atrophic gastritis: a cross-sectional studyin Japan.		182100	21490	2	2003	 the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation. Background: the h type i structure, synthesized by the secretor (se) enzyme in gastric foveolar cells, and its metabolite, lewis b (le(b)) antigen, mediate the adhesion of helicobacter pylori ( h. Pylori) to the gastric epithelium, whereas h. Pylori does not bind to modified forms of le(b) specific for blood types a and b. Such host factors as le and se genotypes and abo blood type may affect the establishment of h. Pylori infection and, once infected, the risk of chronic atrophic gastritis. Methods: we investigated the cross-sectional relation of abo blood type and le and se genotypes to gastric atrophy, assessed by serum pepsinogen levels, in japanese residents from two sources. Results: among the 151 h. Pylori-positive participants of the h. Pylori eradication program, odds ratios (ors) for gastric atrophy, adjusted for age, sex, and smoking, were elevated for blood types a (or = 5.35; 95% confidence interval (ci), 2.11-13.58) and b (or = 4.79; 95% ci, 1.77-12.93) relative to type o. Ors for blood types a and b were also elevated in h. Pylori-negative subjects. These associations were not observed among 250 h. Pylori-positive health check-up examinees. The le genotype was not associated with gastric atrophy in either study population. The se/ se genotype was associated with statistically nonsignificant elevation of gastric atrophy risk in both populations. Conclusions: the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation.	Cohort Japanese residents from two sources 	Helicobacter pylori smoking (tobacco)									
114823	Y	gastritis, chronic atrophic	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Shibata, A.  et al. 2003	12673421				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2		Japan	CDC GDPinfo	28	Hs.561993			Gastric cancer. 2003 ;6(1):16-Aug	ABO blood type, Lewis and Secretor genotypes, and chronic atrophic gastritis: a cross-sectional studyin Japan.		110300	16775	2	2003	 the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation. Background: the h type i structure, synthesized by the secretor (se) enzyme in gastric foveolar cells, and its metabolite, lewis b (le(b)) antigen, mediate the adhesion of helicobacter pylori ( h. Pylori) to the gastric epithelium, whereas h. Pylori does not bind to modified forms of le(b) specific for blood types a and b. Such host factors as le and se genotypes and abo blood type may affect the establishment of h. Pylori infection and, once infected, the risk of chronic atrophic gastritis. Methods: we investigated the cross-sectional relation of abo blood type and le and se genotypes to gastric atrophy, assessed by serum pepsinogen levels, in japanese residents from two sources. Results: among the 151 h. Pylori-positive participants of the h. Pylori eradication program, odds ratios (ors) for gastric atrophy, adjusted for age, sex, and smoking, were elevated for blood types a (or = 5.35; 95% confidence interval (ci), 2.11-13.58) and b (or = 4.79; 95% ci, 1.77-12.93) relative to type o. Ors for blood types a and b were also elevated in h. Pylori-negative subjects. These associations were not observed among 250 h. Pylori-positive health check-up examinees. The le genotype was not associated with gastric atrophy in either study population. The se/ se genotype was associated with statistically nonsignificant elevation of gastric atrophy risk in both populations. Conclusions: the present data showed a strong association of blood types a and b with gastric atrophy in one, but not the other, study population. Discrepant results between the two populations warrant further investigation.	Cohort Japanese residents from two sources 	Helicobacter pylori smoking (tobacco)									
131424		breast cancer; thiopurine methyltransferase activity	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Hamdy, S. I.  et al. 2003	12814450				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			British journal of clinical pharmacology. 2003 Jun;55(6):560-9	Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population.		243400	25347	2	2003	 We found that Egyptians resemble other Caucasians with regard to allelic frequencies of the tested variants of NAT2, GST and MDR-1. By contrast, this Egyptian population more closely resemble Africans with respect to the TPMT*3C allele, and shows a distinctly different frequency with regard to the SULT1A1*2 variant. The predominance of the slow acetylator genotype in the present study (60.50%) could not confirm a previously reported higher frequency of the slow acetylator phenotype in Egyptians (92.00%), indicating the possibility of the presence of other mutations not detectable as T341C, G590A and G857A. The purpose of our future studies is to investigate for new polymorphisms, which could be relatively unique to the Egyptian population.	Cohort 200 unrelated Egyptian subjects Egypt 										
121255	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	19	19q13.3	DBP	53825756	53832400		Ezura, Y.  et al. 2003	12968673				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2		Japan	CDC GDPinfo	1628	Hs.414480			Journal of bone and mineral research. 2003 Sep;18(9):1642-9	Association of molecular variants, haplotypes, and linkage disequilibrium within the human vitamin D-binding protein (DBP) gene with postmenopausal bone mineral density.		124097	16310	2	2003	 Sixteen major haplotypes accounted for 80% of the variations, indicating allelic complexity in this genomic region. Pairwise linkage disequilibrium (LD), measured by the D' and r2 statistics, demonstrated a general pattern of decline with increasing distance, but individual LD values within small genomic segments were diverse. Regression analysis for adjusted BMD revealed significant correlation with respect to five of them (-39C>T, IVS1+827C>T, IVS1+1916C>T, IVS1-1154A>G, and IVS11+1097G>C) at various levels. An intronic SNP (IVS11+1097G>C) with the highest significance of association (p = 0.006) showed significant LD with four SNPs located around the first exon (r2 values > 0.18, D' > 0.5). A non-synonymous coding SNP, D432E, showed a comparable level of correlation, but it was in a moderate LD only with IVS11+1097G>C. The chromosomal dosage of one haplotype (T-C-C-G-T-C in -39C>T, IVS1+827C>T, IVS1+1916C>T, IVS1-1154A>G, D432E and IVS11+1097G>C) estimated in each subject displayed significant correlation with adjusted radial BMD (r = 0.15, p = 0.008; n = 331). Furthermore, multiple regression analyses revealed that the most significant correlation was achieved for the combination of IVS1+827C>T and D432E (r2 = 0.029, p = 0.005). These results indicate a complex combined effect of several SNPs within the DBP gene that might underlie susceptibility to low radial BMD and osteoporosis.	Cohort 384 adult Japanese women 										
140912		invasive cervical cancer.	CANCER	CAN	Uterine Cervical Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Gerhard DS 2003	13678724				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Gynecologic oncology. 2003 Sep;90(3):560-5	A relationship between methylenetetrahydrofolate reductase variants and the development of invasive cervical cancer.		607093	7369	1	2003	 We were unable to confirm a strong association of MTHFR polymorphisms and ICC using family-based controls and a transmission/disequilibrium test. The overall results of the TDT showed chi(2) (1 df) of 0.28 (P = 0.60) for exon 4, chi(2) (1 df) of 0.81(P = 0.37) for exon 7, and chi(2) (3 df) of 2.56 (P = 0.46) for the haplotype, meaning that there was no transmission of those alleles significantly in excess of Mendelian expectations to affected women. In addition, there was no effect of these variants with increased parity or infection with high-risk-type human papillomavirus.											
135525		cervical carcinoma.	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|	11	11q24-q25	ST14	129534891	129585467		Santin AD 2003	14584072				Suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021978.3			KGB	6768	Hs.504315			Cancer. 2003 Nov;98(9):1898-904	The novel serine protease tumor-associated differentially expressed gene-15 (matriptase/MT-SP1) is highly overexpressed in cervical carcinoma.		606797	5640	1	2003	 Cervical carcinoma cells expressed high levels of TADG-15, suggesting that this protease may play an important role in invasion and metastasis. Because TADG-15 appears only in abundance in squamous tumor tissue and contains a proteolytic cleavage site, suggesting that the TADG-15 protease domain is released, it may prove to be a useful diagnostic tool for the early detection of recurrent/persistent cervical carcinoma after standard treatment or as a novel molecular target for therapy in patients with cervical carcinoma.											
120026		HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Tiensiwakul, P.   2004	15192272				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Thai	Thailand	CDC GDPinfo	6387	Hs.522891			Intervirology. 2004 ;47(2):87-92	Stromal cell-derived factor (SDF) 1-3'A polymorphism may play a role in resistance to HIV-1 infection in seronegative high-risk Thais.		600835	20877	2	2004	 The finding is relevant as regards the fact that SDF1-3'A polymorphism induces an increase of SDF1 chemokine production, in which it competes with HIV-1 in binding to CXCR4 receptor, and in turn inhibits HIV-1 infection. The SDF1-3'A-mediated resistant mechanism in Thais differs from that of CCR5-Delta32-mediated resistance in Caucasians. This study provides the first evidence for SDF-3'A polymorphism in resistance to HIV-1 infection in Thais, and may represent the resistant mechanism in the extremely rare CCR5-Delta32 mutant of other ethnic groups such as Africans and Japanese.	Control normal blood donors;Case:432 seronegative Thai prostitutes at high risk:Thailand										
133567	Y	bone density	METABOLIC	MET		2	2p22.2	QPCT	37425256	37453969		Ezura, Y.  et al. 2004	15231017				Glutaminyl-peptide cyclotransferase (glutaminyl cyclase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012413.3			CDC GDPinfo	25797	Hs.79033			Journal of bone and mineral research. 2004 Aug;19(8):1296-301	Association of multiple nucleotide variations in the pituitary glutaminyl cyclase gene (QPCT) with low radial BMD in adult women.		607065	19212	2	2004	 LD analysis indicated strong linkage disequilibrium within the entire 30-kb region of the QPCT gene. Significant correlations were observed between the genotypes of the six SNPs and the radial adj-aBMD, among which R54W (nt + 160C>T) presented the most prominent association (p = 0.0003). Striking association was observed for these SNPs among the 309 subjects >50 years of age (R54W, p = 0.0001; -1095T>C, p = 0.0002; -1844C>T, p = 0.0002). Multiple regression analyses indicated that multiple SNPs in the gene might act in combination to determine the radial adj-aBMD. These results indicate that genetic variations in QPCT are the important factors affecting the BMD of adult women that contribute to susceptibility for osteoporosis. The data should provide new insight into the etiology of the disease and may suggest a new target to be considered during treatment.	Cohort 309 elder subjects (>/=50 years) 										
125203		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Kheradvar, A.  et al. 2004	15471368				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Iran	CDC GDPinfo	3105	Hs.181244			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):526-31	Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-yearfollow-up study.		142800	17204	2	2004	 The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.	Cohort 55 patients with a potential diagnosis of acute optic neuritis (20 were confirmed for the diagnosis of multiple sclerosis) Iran 										
140195		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Optic Neuritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kheradvar, A.  et al. 2004	15471368				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Iran	CDC GDPinfo	3123	Hs.534322			Multiple sclerosis (Houndmills, Basingstoke, England). 2004 Oct;10(5):526-31	Influence of HLA on progression of optic neuritis to multiple sclerosis: results of a four-yearfollow-up study.		142857	26978	2	2004	 The study strongly suggests the association among DR2, A23 and B21 allele and the evolution of ON to MS. High prevalence of A23 and DR2 alleles in CDMS patients compared with the normal population may suggest an important role for these alleles in the development of MS. The study suggests B51 as a protective factor against development of ON in the normal population. In addition, results do not confirm previous studies considering A11 as a predisposing factor. The present study finally evokes that different classes of HLA have different roles in susceptibility to MS and confirms disease heterogeneity as an important emerging concept in MS.	Cohort 55 patients with a potential diagnosis of acute optic neuritis (20 were confirmed for the diagnosis of multiple sclerosis) Iran 										
138995		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	3	3q23-q25	CP	150373221	150422519		Hochstrasser, H.  et al. 2004	15557511				ceruloplasmin (ferroxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000096.1			CDC GDPinfo	1356	Hs.558314			Neurology. 2004 Nov;63(10):1912-7	Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease.		117700	15881	2	2004	 Detection of sequence variations in a single Parkinson disease (PD) patient or associated with the ultrasound marker for increased substantia nigra iron levels and the presence of ceruloplasmin (Cp) immunoreactivity in Lewy bodies underline a suspected role for Cp in the pathogenesis of PD. Further functional analyses are warranted to investigate whether these variations are causally linked to the complex pathogenesis of PD in a subset of cases.											
115935		idiopathic orthostatic intolerance	OTHER	OTH	Hypotension, Orthostatic	5	5q31-q32	ADRB2	148186348	148188381			15719258				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Austria	CDC GDPinfo	154	Hs.591251			International archives of occupational and environmental health. 2005 Apr;78(3):171-7	Functional adrenergic receptor polymorphisms and idiopathic orthostatic intolerance.		109690	26782	2	2005	 Our current results suggest that the beta1Gly49 polymorphism is protective for IOI. This is likely one of several common genetic loci that may represent modifiers of IOI phenotypes.											
132179		repiratory depression	OTHER	OTH		6	6q24-q25	OPRM1	154402135	154609693		Romberg, R. R.  et al. 2005	15731588				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Anesthesiology. 2005 Mar;102(3):522-30	Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect againstopioid-induced respiratory depression despite reduced analgesic response.		600018	13026	2	2005	 The data indicate that the OPRM1:c.118A>G polymorphism affects opioid analgesic and respiratory effects differentially. Despite reduced analgesic responses to M6G the OPRM1:c.118A>G single-nucleotide polymorphism does not protect against the toxic effects of the tested opioid. However, some caution in the interpretation of the data is needed because of the small sample size. Further studies are needed to explore the link between this polymorphism and respiratory/analgesic responses beyond the small human sample. In OPRM1:c.118AA homozygotes, the potency parameters differed by a factor of 2 for analgesic versus respiratory effect. In this respect, M6G differs favorably from morphine.	Cohort 16 healthy volunteers 	anelgesia									
139225		irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Nasopharyngeal Neoplasms	7	7q21.1	CYP3A4	99192539	99219744		Zhou, Q.  et al. 2005	15801936				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			British journal of clinical pharmacology. 2005 Apr;59(4):415-24	Pharmacogenetic profiling across the irinotecan pathway in Asian patients with cancer.		124010	25941	2	2005	 The present exploratory study shows that genetic polymorphisms in drug transporter genes, particularly in ABCB1 and ABCG2 genes, may be important in influencing the pharmacokinetics of irinotecan and its metabolites. The predictive value of the identified allelic variants in the ABCG2 and ABCB1 genes on irinotecan disposition should be further investigated in a larger patient population as well as in other ethnic populations.											
140602		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Tester, D. J.  et al. 2005	15840476				Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			Heart rhythm. 2005 May;2(5):507-17	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.		176261	17906	2	2005	 In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.											
140630		EKG, abnormal	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Tester, D. J.  et al. 2005	15840476				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDPinfo	3784	Hs.95162			Heart rhythm. 2005 May;2(5):507-17	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.		607542	26352	2	2005	 In this comprehensive cardiac channel gene screen of the largest cohort of consecutive, unrelated patients referred for LQTS genetic testing, half of the patients had an identifiable mutation. The majority of mutations continue to represent novel singletons that expand the published compendium of LQTS-causing mutations by 35%. These observations should facilitate diagnostic interpretation of the clinical genetic test for LQTS.											
128666		retinitis pigmentosa	UNKNOWN	UNK	Retinitis Pigmentosa|Refractive Errors	7	7q31.3-q32	IMPDH1	127819566	127837542		Wada, Y.  et al. 2005	15851576				IMP (inosine monophosphate) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000883.2			CDC GDPinfo	3614	Hs.534808			Investigative ophthalmology & visual science. 2005 May;46(5):1735-41	Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.		146690	17794	2	2005	 IMPDH1 mutations account for approximately 2% of cases of dominant RP in North America. The most frequent mutation, Asp226Asn, appears to cause at least as much loss of rod function as cone function. Patients with this form of RP retain, on average, two to five times more ERG amplitude per unit of remaining visual area than patients with three other forms of dominant RP.											
114655		tacrolimus phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Tada, H.  et al. 2005	15919447	C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Transplantation proceedings. 2005 May;37(4):1730-2	Impact of CYP3A5 and MDR1(ABCB1) C3435T polymorphisms on the pharmacokinetics of tacrolimus in renal transplant recipients.		171050	8256	2	2005	 Renal transplant recipients who were CYP3A5*1 carriers required a higher dose of tacrolimus than CYP3A5*3/*3, indicating a significantly lower dose-adjusted AUC0-12 of tacrolimus. In contrast, MDR1 C3435T polymorphism was not an important factor in tacrolimus pharmacokinetics.											
119541		osteoarthritis	METABOLIC	MET	Osteoarthritis	20	20q13.3	COL9A3	60918858	60942956		Jakkula, E.  et al. 2005	15922184				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDPinfo	1299	Hs.126248			Osteoarthritis and cartilage. 2005 Jun;13(6):497-507	The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.		120270	27391	2	2005	 Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.											
139813		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Skorka, A.  et al. 2005	15943829				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Polish	Poland	CDC GDPinfo	3123	Hs.534322			Clinical endocrinology. 2005 Jun;62(6):679-82	Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population:association and gene dose-dependent correlation with age of onset.		142857	22061	2	2005	 We replicated the association between Graves' disease and PTPN22 'T' reported in British Caucasians. We also found a gene dose-dependent effect of PTPN22 'T' on the age of onset of Graves' disease.											
136282		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	22	22q12.1-q13.2	TIMP3	31526801	31589028		Ogata, T.  et al. 2005	15944607				TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4			CDC GDPinfo	7078	Hs.297324			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		188826	28366	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
130674		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22.3	MMP10	102146443	102156554		Ogata, T.  et al. 2005	15944607				Matrix metallopeptidase 10 (stromelysin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002425.1			CDC GDPinfo	4319	Hs.2258			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		185260	26414	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
128266		preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	4	4q26-q27	IL2	123592075	123597100		Engel, S. A.  et al. 2005	15951664				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2		North Carolina	CDC GDPinfo	3558	Hs.89679			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		147680	25003	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
128034		preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	2	2q14	IL1B	113303807	113310827		Engel, S. A.  et al. 2005	15951664				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		North Carolina	CDC GDPinfo	3553	Hs.126256			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		147720	22526	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
140531		preterm delivery	REPRODUCTION	REP	Vaginosis, Bacterial|Premature Birth	7	7p21	IL6	22733322	22738141		Engel, S. A.  et al. 2005	15951664				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		North Carolina	CDC GDPinfo	3569	Hs.512234			Epidemiology (Cambridge, Mass). 2005 Jul;16(4):469-77	Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms.		147620	26312	2	2005	 Our results suggest that common genetic variants in proinflammatory cytokine genes could influence the risk for spontaneous preterm birth. Selected TNF/LTA haplotypes were associated with spontaneous preterm birth in both African-American and white subjects. Our data do not support an inflammatory etiology for SGA.											
131053		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Zauber, N. P.  et al. 2005	15959913				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	Jewish		CDC GDPinfo	4436	Hs.156519			Cancer. 2005 Aug;104(4):719-29	Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms.		120435	25261	2	2005	 In Jewish individuals previously diagnosed with a colorectal neoplasm, MSH2*1906G>C is uncommon but has been associated with carcinoma occurring at a young age. The BLM(Ash) mutation is uncommon and appears to be of little effect. The I1307K mutation is common among Jews who have had colorectal neoplasms, but overall it was found to have little effect clinically in the current study group. There may be a gene-environment interaction between the I1307K mutation and cigarette use.		smoking (tobacco)									
138692		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	9	9p21	CDKN2A	21957750	21965038		Soto Martinez, J. L.  et al. 2005	15960923				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Clinical & translational oncology. 2005 May;7(4):156-64	Mutation and homozygous deletion analyses of genes that control the G1/S transition of the cell cycle in skin melanoma: p53, p21, p16 and p15.		600160	20770	2	2005	 Our results suggest that these genes are involved in melanoma tumorigenesis; but perhaps not in the major targets. Other suppressor genes that may be informative of the mechanism of tumorigenesis in skin melanomas need to be studied.											
133241		combined pituitary hormone deficiency	METABOLIC	MET	Hypopituitarism	5	5q35.3	PROP1	177351841	177355849		Turton, J. P.  et al. 2005	15963055				Prophet of Pit1, paired-like homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006261.2			CDC GDPinfo	5626	Hs.158301			Clinical endocrinology. 2005 Jul;63(1):8-Oct	Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).		601538	19096	2	2005	 PROP1 mutations are rare in sporadic cases of CPHD, although the prevalence rises if there is a positive family history or if the patients are carefully selected with respect to the endocrine and neuroradiological phenotype. There is considerable phenotypic variability in families with the same mutation, indicating the role of other genetic or environmental factors on phenotypic expression. Finally, the pituitary enlargement that is observed in patients with PROP1 mutations can wax and wane in size before eventual involution.											
118654		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Chang, H. Y.  et al. 2005	15980670			promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDPinfo	1234	Hs.450802			The Korean journal of hepatology. 2005 Jun;11(2):116-24	[Association between CCR5 promoter polymorphisms and hepatitis B virus infection]		601373	9210	2	2005	 The CCR5 promoter polymorphisms at position 59029 might play a role in the clearance of HBV infection. This primary experimental evidence needs further studies to clarify the clinical usefulness of CCR5 promoter polymorphisms as a target for the screening or treatment of HBV infection.											
138416		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Vascular Diseases|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Baum, L.  et al. 2005	15983323	( -514 C-->T)			Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Chinese		CDC GDPinfo	345	Hs.73849			Diabetes care. 2005 Jul;28(7):1704-9	Effect of hepatic lipase -514C->T polymorphism and its interactions with apolipoprotein C3 -482C->T and apolipoprotein E exon 4 polymorphisms on the risk of nephropathy in chinese type 2 diabetic patients.		107720	12190	2	2005	 HL T+ genotypes might increase the risk of developing diabetic nephropathy by slowing clearance of triglyceride-rich remnant lipoproteins. In concert with other risk factors (e.g., hyperglycemia), lipid abnormalities may damage the kidneys and endothelium, where reduced binding sites for lipases may precipitate a vicious cycle of dyslipidemia, proteinuria, and nephropathy.											
119213		pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Weiss, F. U.  et al. 2005	15987793				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Gut. 2005 Oct;54(10):1456-60	Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.		602421	15777	2	2005	 These data show that not only compound heterozygosity, but also cystic fibrosis carrier status for different types of CFTR mutations, including uncommon/mild mutations, significantly increase the risk of developing pancreatitis. Although 45% of the study's ICP patients carried predisposing genetic risk factors (for example, mutations in CFTR or SPINK1), the authors found no evidence that the risk conveyed by CFTR mutations depends on co-inherited SPINK1 mutations.											
132838	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	7	7q21.3	PON1	94764923	94791780		Ferre, N.  et al. 2005	15993873				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Clinica chimica acta; international journal of clinical chemistry. 2005 Nov;361(2-Jan):206-10	Genetic association of paraoxonase-1 polymorphisms and chronic hepatitis C virus infection.		168820	13248	2	2005	 The present study suggests that the paraoxonase-1 192 polymorphism contributes, together with other polymorphisms, to the variations in the host response to HCV infection.											
134731	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Simsek, M.  et al. 2005	15993876				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Clinical biochemistry. 2005 Aug;38(8):739-42	Association of the risk allele of dopamine transporter gene (DAT1*10) in Omani male children with attention-deficit hyperactivity disorder.		126455	13827	2	2005	 We determined the DAT1-VNTR alleles in 202 Omani subjects. There were two common alleles (DAT1*9 and *10) and five rare ones. The DAT1*10 allele distribution was essentially the same both in the control (60.9%) and the patient group (64.6%). There was, however, a relatively higher occurrence of the DAT1*10 allele in ADHD males (69.4%) than females (55%), but this gender difference was not present in the control group (males 60%, females 62%).											
134746	Y	alcoholism; delirium tremens, alcohol-induced	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Kohnke, M. D.  et al. 2005	15996968				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Alcohol and alcoholism (Oxford, Oxfordshire). 2005 Sep-Oct;40(5):339-42	Association of the dopamine transporter gene with alcoholism.		126455	19533	2	2005	 Our results reveal that the allele A9 is strongly associated with alcoholism but not with withdrawal symptoms or daily alcohol intake.											
119121		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Stenosis|Neovascularization, Pathologic|Postoperative Complications	16	16q21	CETP	55553262	55575257		Zambon, A.  et al. 2005	16005462			promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Atherosclerosis. 2006 Mar;185(1):121-6	Common hepatic lipase gene promoter variant predicts the degree of neointima formation after carotid endarterectomy: Impact of plaquecomposition and lipoprotein phenotype.		118470	18042	2	2005	 The LIPC promoter -514 C-T polymorphism is associated with a significantly reduced development of neointima after surgery. This effect seems to be mediated by scarcity of SMC in the plaque of CC carriers who display an excess prevalence of cerebrovascular events prior endarterectomy but are at low risk for restenosis. The pre-operative lipid phenotype plays a marginal role in the neointima formation.											
135360		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6q25.3	SOD2	160020138	160034343		Landi, S.  et al. 2005	16006997				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Pharmacogenetics and genomics. 2005 Aug;15(8):535-546	A comprehensive analysis of phase I and phase II metabolism gene polymorphisms and risk of colorectal cancer.		147460	28565	2	2005	 The present data suggest a role for CYP1B1 and CYP1A1 as new candidate genes in the etiology of CRC and confirm the carcinogenic role of aromatic amines metabolism for colorectum.											
132886		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Atherosclerosis	7	7q21.3	PON1	94764923	94791780		Akcay, Y. D.  et al. 2005	16023312				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Maturitas. 2006 Feb;53(3):325-32	Effects of estrogen-only therapy on LDL oxidation in women with hysterectomy: Does paraoxonasegenotype play a role?		168820	19002	2	2005	 Our study drives the attention to PON polymorphism in postmenopausal women who have risk for atherosclerosis. Although our data is limited, this study is the first that focuses on the role of PON genotypes in antiatherosclerotic effects of estrogen-only and provides important points for further studies.		estrogen									
141546		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Rios, D. L.  et al. 2005	16026776				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2005 Dec;362(2-Jan):138-46	Endothelial nitric oxide synthase and fractalkine chemokine receptor polymorphisms on angiographically assessed coronary atherosclerosis.		163729	23142	2	2005	 The -786T > C was the polymorphism associated with severe CAD in this study. Haplotype analyses can be extremely helpful in unraveling the influence of different markers within a gene.											
137291		brain cancer	CANCER	CAN	Astrocytoma|Glioblastoma	17	17p13.1	TP53	7505821	7531642		Wiencke, J. K.  et al. 2005	16030116				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		San Francisco	CDC GDPinfo	7157	Hs.408312			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1774-83	Molecular features of adult glioma associated with patient race/ethnicity, age, and a polymorphism in O6-methylguanine-DNA-methyltransferase.		191170	25729	2	2005	 Our results are consistent with ethnic variation in glioma pathogenesis. The data on MGMT show that an inherited factor involving the repair of methylation and other alkylation damage, specifically to the O6 position of guanine, may be associated with the development of tumors that proceed in their development without TP53 mutations or accumulation of TP53 protein and possibly also those that do not involve amplification of the EGFR locus.											
140988		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Lee, J.  et al. 2005	16030402				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Korean		CDC GDPinfo	4524	Hs.214142			The Korean journal of gastroenterology. 2005 Jul;46(1):32-8	[Clinical significance of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in Korean patients with gastric cancer]		607093	14576	2	2005	 The TSER and MTHFR genotypes are not effective markers for tumor sensitivity to 5-FU-based chemotherapy in Korean gastric cancer patients after curative resection. These results may suggest further large-scale study about TSER and MTHFR polymorphism for the prediction of efficacy of 5-FU-based chemotherapy in gastric cancer in Korea.		5-flurouracil									
141916		stomach cancer	CANCER	CAN	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Lee, J.  et al. 2005	16030402				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Korean		CDC GDPinfo	7298	Hs.592338			The Korean journal of gastroenterology. 2005 Jul;46(1):32-8	[Clinical significance of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphism in Korean patients with gastric cancer]		188350	23840	2	2005	 The TSER and MTHFR genotypes are not effective markers for tumor sensitivity to 5-FU-based chemotherapy in Korean gastric cancer patients after curative resection. These results may suggest further large-scale study about TSER and MTHFR polymorphism for the prediction of efficacy of 5-FU-based chemotherapy in gastric cancer in Korea.		5-flurouracil									
114721		nelfinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Seropositivity	7	7q21.1	ABCB1	86970883	87180500		Colombo, S.  et al. 2005	16041239				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacogenetics and genomics. 2005 Sep;15(9):599-608	Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo.		171050	14934	2	2005	 There was no significant association between cellular nelfinavir area under the curve (AUC) and SNPs or haplotypes at ABCC1, ABCC2, ABCG2. There was an association with cellular exposure for two loci in strong linkage disequilibrium: ABCB1 3435C>T; AUCTT>AUCCT>AUCCC (ratio 2.1, 1.4, 1, Ptrend=0.01), and intron 26 +80T>C; AUCCC> AUCCT > AUCTT (ratio 2.4, 1.3, 1, Ptrend=0.006). Haplotypic analysis using tagging SNPs did not improve the single SNP association values.											
118850	Y	liver disease, alcoholic	OTHER	OTH	Hepatic Encephalopathy|Liver Cirrhosis, Alcoholic	5	5q22-q32	CD14	139991500	139993439		Campos, J.  et al. 2005	16046876	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Spain	CDC GDPinfo	929	Hs.163867			Alcoholism, clinical and experimental research. 2005 Jul;29(7):1206-13	The -159C/T polymorphism in the promoter region of the CD14 gene is associated with advanced liver disease and higher serum levels of acute-phase proteins in heavy drinkers.		158120	9287	2	2005	 Our results support the notion that CD14/-159TT homozygous heavy drinkers have higher levels of the LPS-binding acute-phase proteins (LBP and sCD14) than do carriers of the CD14/-159C allele. Also, the CD14/-159TT genotype may be a risk factor for advanced ALD.											
138784		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Corneal Diseases	3	3p21	CCR2	46370363	46377429		Pai, J. K.  et al. 2005	16055130				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Atherosclerosis. 2005	Polymorphisms in the CC-chemokine receptor-2 (CCR2) and -5 (CCR5) genes and risk of coronary heart disease among US women.		601267	9212	2	2005	 In this population, CCR2-CCR5 haplotypes were not associated with risk of CHD. However, our data suggest a strong inverse association for certain CCR5 variants and early age of CHD onset.											
120192		blood pressure, arterial	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Wu, S. L.  et al. 2005	16080804				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):595-8	[Association of polymorphisms in ACE and CYP11B2 genes with antihypertensive effects of hydrochlorothiazide]		124080	20890	2	2005	 The present study suggested that the ACE DD genotype was associated with the systolic BP response to HCTZ, and that the subjects with the combination of ACE DD and CYP11B2 CC genotypes might have a better BP response to HCTZ than the other genotypic combinations of these 2 genes.		hydrochlorothiazide									
141064		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Almawi, W. Y.  et al. 2005	16082606				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of thrombosis and thrombolysis. 2005 Jun;19(3):189-96	A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis.		607093	25287	2	2005	 This indicates that FV-Leiden and PRT G20210A, more than MTHFR C677T, are important risk factors for DVT, and that the presence of more than one prothrombotic SNPs was associated with a significant risk of DVT.											
122543		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Sun, Y. H.  et al. 2005	16083630				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Jul;43(14):948-51	[Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer]		601663	10431	2	2005	 Our study suggests that this disease of interest is highly associated with rs3829768 (A/G) and rs1271572 (C/A) in CaP cases. CaP, prostate cancer; ERalpha, estrogen receptor alpha; ERbeta, estrogen receptor beta; SNP, Single nucleotide polymorphisms; betaERKO, ERbeta knockout; PIN, prostatic intraepithelial neoplasia; HWE, Hardy-Weinberg equilibrium; NRE, Negative Regulatory Element.											
119275		bipolar disorder	PSYCH	PSY	Bipolar Disorder	18	18p11.21	CHMP1B	11841425	11842697		McNabb, L. D.  et al. 2005	16094257				chromatin modifying protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM451314			CDC GDPinfo	57132	Hs.551551			Psychiatric genetics. 2005 Sep;15(3):211-4	Association analysis of CHMP1.5 genetic variation and bipolar disorder.		606486	15808	2	2005	 Variation in the CHMP1.5 gene does not appear to be associated with bipolar disorder. A systematic assessment of genetic variation in the region using association studies will be necessary.											
137482	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	11	11p15.5	TRIM21	4362702	4371502		Imanishi, T.  et al. 2005	16095123				Tripartite motif-containing 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003141.3	Japanese	Japan	CDC GDPinfo	6737	Hs.532357			Clinical and experimental rheumatology. 2005 Jul-Aug;23(4):521-4	A novel polymorphism of the SSA1 gene is associated with anti-SS-A/Ro52 autoantibody in Japanese patients with primary Sjogren's syndrome.		109092	14530	2	2005	 7216A/G polymorphism of SSA1 gene may be one of the genetic factors that determine the presence of anti-SS-A/Ro52 antibody in patients with primary SS.											
122471		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Mansur Ade, P.  et al. 2005	16099331				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Archives of medical research. 2005 Sep-Oct;36(5):511-7	Genetic polymorphisms of estrogen receptors in patients with premature coronary artery disease.		133430	10433	2	2005	 Our data suggest that mutation of the ESR2 is an independent risk marker for premature CAD.											
136777		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		McHugh, N.  et al. 2005	16107511				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Annals of the rheumatic diseases. 2005	MHC Class II, tumor necrosis factor-{alpha} and lymphotoxin-{alpha} gene haplotype associations with serological subsets of systemic lupus erythematosus.		191160	26691	2	2005	 The strongest association in this predominantly white population with SLE was between HLA-DR3 and anti-La, which seemed to account for any associations with TNFalpha alleles on an extended DR3 haplotype.											
132694		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	7	7p22.2	PMS2	5977082	6015263		Southey, M. C.  et al. 2005	16116158				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4			CDC GDPinfo	5395	Hs.632637			Journal of clinical oncology. 2005 Sep;23(27):6524-32	Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.		600259	26501	2	2005	 Tumor IHC analysis of four MMR proteins and MSI testing provide a highly sensitive strategy for identifying MMR gene mutation-carrying, early-onset colorectal cancer patients, half of whom would have been missed using Amsterdam Criteria alone. Tumor-based approaches for triaging early-onset colorectal cancer patients for MMR gene mutation testing, irrespective of family history, appear to be an efficient screening strategy for HNPCC.											
131073		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Southey, M. C.  et al. 2005	16116158				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDPinfo	2956	Hs.445052			Journal of clinical oncology. 2005 Sep;23(27):6524-32	Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.		600678	25272	2	2005	 Tumor IHC analysis of four MMR proteins and MSI testing provide a highly sensitive strategy for identifying MMR gene mutation-carrying, early-onset colorectal cancer patients, half of whom would have been missed using Amsterdam Criteria alone. Tumor-based approaches for triaging early-onset colorectal cancer patients for MMR gene mutation testing, irrespective of family history, appear to be an efficient screening strategy for HNPCC.											
132895	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Su, S. Y.  et al. 2005	16117861				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese	China	CDC GDPinfo	5444	Hs.370995			Chinese medical journal. 2005 Jul;118(14):1167-74	Paraoxonase gene cluster variations associated with coronary heart disease in Chinese Han women.		168820	19018	2	2005	 This association study suggested that lower plasma PON1 activity increased the risk of CHD in Chinese women, which may be mediated by the higher frequency of -107T allele in cases. Haplotype analyses indicated that there might be some synergistic effects between the PON1 -107C > T and PON2 S311C polymorphisms.			PON1	-107C > T	PON2	S311C			Y		coronary heart disease
135091		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		de Lara, C. L.  et al. 2005	16125146				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Biological psychiatry. 2006 Jan;59(2):114-20	STin2 Variant and Family History of Suicide as Significant Predictors of Suicide Completion in Major Depression.		182138	19606	2	2005	 The STin2 locus might account, at least in part, for the observed familial aggregation of suicidal behavior. These results should be further explored in families where clustering of suicidal behavior is observed.											
124017		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Propst, E. J.  et al. 2005	16125251				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2	Canadian		CDC GDPinfo	10804	Hs.511757			International journal of pediatric otorhinolaryngology. 2006 Mar;70(3):435-44	Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.		604418	21522	2	2005	 This study represents the largest number of biallelic GJB2 mutations isolated in a group of paediatric cochlear implant users to date. Numerous and diverse GJB2 mutations were found in this multi-cultural group of children. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in a multi-ethnic population (Canadian), as compared with previous studies that investigated fairly homogeneous populations. The diversity of GJB2 mutations identified reinforces the importance of testing for changes in GJB2 by direct sequencing of the entire coding region rather than testing only for common mutations.											
124002		hearing loss/deafness	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Propst, E. J.  et al. 2005	16125251				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Canadian		CDC GDPinfo	2706	Hs.591234			International journal of pediatric otorhinolaryngology. 2006 Mar;70(3):435-44	Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.		121011	16956	2	2005	 This study represents the largest number of biallelic GJB2 mutations isolated in a group of paediatric cochlear implant users to date. Numerous and diverse GJB2 mutations were found in this multi-cultural group of children. Even though GJB2 mutations have been widely reported in the literature, this discussion represents the first report of GJB2 mutations in a multi-ethnic population (Canadian), as compared with previous studies that investigated fairly homogeneous populations. The diversity of GJB2 mutations identified reinforces the importance of testing for changes in GJB2 by direct sequencing of the entire coding region rather than testing only for common mutations.											
118189		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16p12-q21	CARD15	49288551	49324488		Addo, A.  et al. 2005	16134725				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			CDC GDPinfo	64127	Hs.592072			Scandinavian journal of rheumatology. 2005 May-Jun;34(3):198-203	Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility.		605956	15580	2	2005	 These data suggest that CARD15 variants are not associated with RA susceptibility.											
137997		warfarin therapy, response to	PHARMACOGENOMIC	PHARM	Heart Diseases	16	16p11.2	VKORC1	31009675	31013777		Veenstra, D. L.  et al. 2005	16141794				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Chinese	Hong Kong	CDC GDPinfo	79001	Hs.324844			Pharmacogenetics and genomics. 2005 Oct;15(10):687-91	Association of Vitamin K epoxide reductase complex 1 (VKORC1) variants with warfarin dose in a Hong Kong Chinese patient population.		608547	23910	2	2005	 VKORC1 genotype is the dominant genetic influence on inter-individual variability in warfarin dose in Hong Kong Chinese. The lower mean dose of warfarin in Chinese, relative to Europeans, appears to be a reflection of their preponderance of the 'low-dose' VKORC1 H1/H1 (homozygous group A) genotype.											
123915		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	8	8q12.3	GGH	64090192	64113940		Herrlinger, K. R.  et al. 2005	16141796				Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003878.1			CDC GDPinfo	8836	Hs.78619			Pharmacogenetics and genomics. 2005 Oct;15(10):705-11	The pharmacogenetics of methotrexate in inflammatory bowel disease.		601509	19257	2	2005	 Side effects of MTX in IBD are associated with a SNP in the MTHFR gene but response cannot be predicted by any of the investigated SNPs.		methotrexate									
133765		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Herrlinger, K. R.  et al. 2005	16141796				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Pharmacogenetics and genomics. 2005 Oct;15(10):705-11	The pharmacogenetics of methotrexate in inflammatory bowel disease.		600424	25489	2	2005	 Side effects of MTX in IBD are associated with a SNP in the MTHFR gene but response cannot be predicted by any of the investigated SNPs.		methotrexate									
141034		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Herrlinger, K. R.  et al. 2005	16141796				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Pharmacogenetics and genomics. 2005 Oct;15(10):705-11	The pharmacogenetics of methotrexate in inflammatory bowel disease.		607093	22990	2	2005	 Side effects of MTX in IBD are associated with a SNP in the MTHFR gene but response cannot be predicted by any of the investigated SNPs.		methotrexate									
129437		liver disease, chronic	OTHER	OTH	Liver Failure|Genetic Predisposition to Disease	12	12q13	KRT18	51628921	51632952		Ku, N. O.  et al. 2005	16143128				Keratin 18	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000224.2			CDC GDPinfo	3875	Hs.406013			Gastroenterology. 2005 Sep;129(3):885-93	Keratins as susceptibility genes for end-stage liver disease.		148070	17968	2	2005	 The overall frequency of keratin 8 and 18 variants was 12.4% in 467 liver disease explants and 3.7% in 349 blood bank controls (P < .0001). Variants can alter keratin solubility or phosphorylation and may render individuals susceptible to end-stage liver disease, depending on their genetic background and exposure to other insults, such as alcohol or viral infection.											
122707		cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Lichy, C.  et al. 2005	16155788				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Journal of neurology. 2005	Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems.		176930	14133	2	2005	 In this large series of CVT patients, a positive association with established thrombophilic risk factors FVL and especially the PT G20210A mutation was confirmed. In contrast, our study found no significant association of CVT with SNPs of the TAFI and the PZ genes. Other than testing for FVL and the PT G20210A mutation, exploration of these potential thrombophilic variants seems to be of limited value in the investigation of CVT.											
128406		Sjogren's syndrome; purpura	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Pertovaara, M.  et al. 2005	16166103				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Annals of the rheumatic diseases. 2005	Th2 cytokine genotypes are associated with a milder form of primary Sjogren's syndrome.		147780	25017	2	2005	 The frequencies of the cytokine genotypes regulating Th1/Th2 differentiation did not differ between pSS patients and controls. However, the presence of cytokine genotypes with increased susceptibility to atopic and other Th2 diseases was associated with signs of a milder form of pSS. This finding would favour a hypothesis envisaging pSS as primarily a Th1 mediated autoimmune disease.											
127745		Sjogren's syndrome; purpura	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Pertovaara, M.  et al. 2005	16166103				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Annals of the rheumatic diseases. 2005	Th2 cytokine genotypes are associated with a milder form of primary Sjogren's syndrome.		147683	22469	2	2005	 The frequencies of the cytokine genotypes regulating Th1/Th2 differentiation did not differ between pSS patients and controls. However, the presence of cytokine genotypes with increased susceptibility to atopic and other Th2 diseases was associated with signs of a milder form of pSS. This finding would favour a hypothesis envisaging pSS as primarily a Th1 mediated autoimmune disease.											
127173	Y	Sjogren's syndrome; purpura	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Pertovaara, M.  et al. 2005	16166103				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Annals of the rheumatic diseases. 2005	Th2 cytokine genotypes are associated with a milder form of primary Sjogren's syndrome.		147570	17653	2	2005	 The frequencies of the cytokine genotypes regulating Th1/Th2 differentiation did not differ between pSS patients and controls. However, the presence of cytokine genotypes with increased susceptibility to atopic and other Th2 diseases was associated with signs of a milder form of pSS. This finding would favour a hypothesis envisaging pSS as primarily a Th1 mediated autoimmune disease.											
132436		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Saleheen, D.  et al. 2005	16166573				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3		Pakistan	CDC GDPinfo	5144	Hs.591763			Stroke; a journal of cerebral circulation. 2005 Oct;36(10):2275-7	Association of phosphodiesterase 4D gene with ischemic stroke in a Pakistani population.		600129	18871	2	2005	 The association of PDE4D variation with ischemic stroke extends to the Pakistani population and supports a role for phosphodiesterases in stroke pathogenesis.											
122723		fetal loss, late; pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Fetal Death|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Santoro, R.  et al. 2005	16170289				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDPinfo	2147	Hs.410092			Minerva ginecologica. 2005 Aug;57(4):447-50	[Prothrombotic gene mutations in women with recurrent abortions and intrauterine fetal death]		176930	16602	2	2005	 Our data suggest that the screening for the FVL and FII G20210A mutations is useful in the setting of unexplained early and late pregnancy loss. Further studies are necessary in order to clarify the real impact of prothrombotic molecular defects on the pregnancy outcome and then to evaluate the appropriate therapeutic approach.											
126612	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Smoller, J. W.  et al. 2005	16197923				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDPinfo	3351	Hs.123016			Biological psychiatry. 2005	Association Between the 5HT1B Receptor Gene (HTR1B) and the Inattentive Subtype of ADHD.		182131	17571	2	2005	 These analyses suggest that variation in the HTR1B gene may primarily affect the inattentive subtype of ADHD.											
130353		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	12	12q14.3-q15	MDM2	67488246	67520481		Sotamaa, K.  et al. 2005	16203772	SNP309			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2		Finland	CDC GDPinfo	4193	Hs.567303			Clinical cancer research. 2005 Oct;11(19 Pt 1):6840-4	p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome.		164785	12341	2	2005	 This study failed to show any role of the p53 polymorphism on age of colorectal cancer onset in Lynch syndrome and sporadic colorectal cancer. The polymorphism in the MDM2 promoter had no affect on age of onset in Lynch syndrome. Accurate information about age of onset is important in clinical practice, especially in high-risk conditions. As association studies are vulnerable to biologically insignificant variation, both positive and negative findings need to be reported to enable unbiased assessment of the significance of putative risk variants.											
137988		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Hypertension	3	3p26-p25	VHL	10158318	10168746		Schouten, L. J.  et al. 2005	16208141				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDPinfo	7428	Hs.517792			Journal of hypertension. 2005 Nov;23(11):1997-2004	Hypertension, antihypertensives and mutations in the Von Hippel-Lindau gene in renal cell carcinoma:results from the Netherlands Cohort Study.		608537	20165	2	2004	 In this study non-significantly increased risks for history of hypertension and use of antihypertensive medication with RCC were observed. The association with hypertension was stronger in RCC patients with VHL mutations, while there was a positive association of diuretics use and risk of RCC without VHL mutations.											
121958		baroflex sensitivity	UNKNOWN	UNK	Hypertension|Genetic Predisposition to Disease	4	4q31.22-q31.23	EDNRA	148621579	148685555		Ormezzano, O.  et al. 2005	16208144				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Journal of hypertension. 2005 Nov;23(11):2019-26	A polymorphism in the endothelin-A receptor gene is linked to baroreflex sensitivity.		131243	10238	2	2005	 These results suggest that the endothelin system may be involved in the regulation of BRS in humans. In particular, the T allele of the EDNRA/C+1222T polymorphism is associated with a reduction in BRS in both healthy and hypertensive subjects.											
123930		idiopathic short stature	DEVELOPMENTAL	DEV	Birth Weight	5	5p13-p12	GHR	42459782	42757683		Bonioli, E.  et al. 2005	16213173				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDPinfo	2690	Hs.125180			Growth hormone & IGF research. 2005 Dec;15(6):405-10	Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.		600946	16901	2	2005	 Heterozygous mutations of the GHR gene are uncommon in Italian ISS patients, who are selected for adequate GH levels. However the observed incidence of 2 mutations out of 37 ISS patients (i.e., 5%) is not different from the one previously reported in the literature.											
136398		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Adjers, K.  et al. 2005	16215326				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Finland	CDC GDPinfo	7099	Hs.174312			International archives of allergy and immunology. 2005 Nov;138(3):251-6	Epistatic effect of TLR4 and IL4 genes on the risk of asthma in females.		603030	23677	2	2005	 Our results indicate that in females the TLR4 and IL4 genes show an epistatic effect on the risk of asthma. The low LPS-responsive allele G of TLR4 and high IgE production allele T of IL4 were found to be the predisposing combination. However, there was no epistatic effect on the risk of atopy.											
141664		cholesterol, HDL; heart disease, ischemic; diabetes, type 2; insulin	METABOLIC	MET	Cardiovascular Diseases|Diabetes Mellitus|Insulin Resistance|Diabetes Complications	22	22q12-q13.1	PPARA	44925162	45018317		Tai, E. S.  et al. 2005	16221474	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Atherosclerosis. 2005	The L162V polymorphism at the peroxisome proliferator activated receptor alpha locus modulates the risk of cardiovascular events associated with insulin resistance and diabetes mellitus: The Veterans Affairs HDL InterventionTrial (VA-HIT).		170998	13287	2	2005	 The effect of the L162V polymorphism at the PPARA locus on CV risk depends on the presence of DM/IR. Among subjects treated with gemfibrozil, the V162 allele was associated not only with reduced CV risk in subjects with DM/IR, but also with significantly increased CV risk in the absence of these traits, identifying this genetic variant as a potential marker for predicting which subjects may have a favorable response to fibrate therapy.		gemfibrozil									
118976		liver transplant	OTHER	OTH	Acute Disease|Chronic Disease	3	3q21	CD86	123256910	123322673		Marin, L. A.  et al. 2005	16223675				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3			CDC GDPinfo	942	Hs.171182			Transplant immunology. 2005 Oct;15(1):69-74	Evaluation of CD86 gene polymorphism at +1057 position in liver transplant recipients.		601020	9323	2	2005	 The results of the present report suggest that the CD86 AA genotype at +1057 position could be involved in liver transplant acceptance, given that its presence is related to a decrease of acute rejection frequency and to a graft survival increase.											
136763		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Zhu, Q. R.  et al. 2005	16232344				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Chinese medical journal. 2005 Oct;118(19):1604-9	Relationship between cytokines gene polymorphism and susceptibility to hepatitis B virus intrauterine infection.		191160	26677	2	2005	 This study suggested the possibility that the TNF-alpha -238 A allele and IFN-gamma +874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4 -590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10 -1082 G allele was associated with preventive efficacy to HBV intrauterine infection.											
141558		asthma	IMMUNE	IMM	Asthma	7	7q36	NOS3	150319079	150342609		Leung, T. F.  et al. 2005	16238787				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese		CDC GDPinfo	4846	Hs.511603			Clinical and experimental allergy. 2005 Oct;35(10):1288-94	Nitric oxide synthase polymorphisms and asthma phenotypes in Chinese children.		163729	23154	2	2005	 NOS1 C5266T and AAT repeats affect plasma IgE concentrations in Chinese children. On the other hand, neither NOS1 nor NOS3 SNP was associated with FeNO or the risk of having asthma.											
139285		CYP3A activity	METABOLIC	MET	Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Lepper, E. R.  et al. 2005	16243813				Cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDPinfo	1577	Hs.150276			Clinical cancer research. 2005 Oct;11(20):7398-404	Effect of common CYP3A4 and CYP3A5 variants on the pharmacokinetics of the cytochrome P450 3A phenotyping probe midazolam in cancer patients.		605325	21123	2	2005	 The studied genetic variants in CYP3A4 and CYP3A5 are unlikely to have an important functional significance to phenotypic CYP3A activity in patients with cancer.											
140059		Graves' disease; Hashimoto's thyroiditis; autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Polyendocrinopathies, Autoimmune|Hashimoto Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hashimoto, K.  et al. 2005	16254435				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Hormone research. 2005 ;64(5):253-60	Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population.		142857	24786	2	2005	 Susceptible HLA class II haplotypes of DRB1-DQA1-DQB1 for APS III differ between the Japanese and Caucasian populations. More interestingly, the susceptible HLA class II haplotypes differ among the three types of Japanese APS III and are not merely a combination of susceptibility haplotypes of each endocrine disease.											
121912		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	5	5q34	EBF	158058005	158459347		Martinez, A.  et al. 2005	16255771				Early B-cell factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024007.2	Spanish		CDC GDPinfo	1879	Hs.308048			BMC Neurol    2005    5    19	Early B-cell Factor gene association with multiple sclerosis in the Spanish population.		164343	16453	2	2005	 Our data support EBF1 gene association with MS pathogenesis in the Spanish white population. Two genetic markers within the EBF1 gene have been found associated with this neurological disease, indicative either of their causative role or that of some other polymorphism in linkage disequilibrium with them.											
126978		thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Penco, S.  et al. 2005	16266408				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDPinfo	3383	Hs.643447			Annals of human genetics. 2005 Nov;69(Pt 6):693-706	Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.		147840	22306	2	2005	 The findings of this study illustrate the power of ANN in evaluating multifactorial data, and show that the different sensitivities of the models of elaboration are related to the characteristics of the data. This may contribute to a better understanding of the role played by genetic polymorphisms in VTE, and help to define, if possible, a test panel of genetic variants to estimate an individual's probability of developing the disease.											
141079		thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Penco, S.  et al. 2005	16266408				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Annals of human genetics. 2005 Nov;69(Pt 6):693-706	Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.		607093	25302	2	2005	 The findings of this study illustrate the power of ANN in evaluating multifactorial data, and show that the different sensitivities of the models of elaboration are related to the characteristics of the data. This may contribute to a better understanding of the role played by genetic polymorphisms in VTE, and help to define, if possible, a test panel of genetic variants to estimate an individual's probability of developing the disease.											
131280		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Ozgul, R. K.  et al. 2005	16280977			promoter	Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Turkish		CDC GDPinfo	4653	Hs.436037			Molecular vision [electronic resource]. 2005 Nov;11:916-21	Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma.		601652	12640	2	2005	 Our results suggest that in our Turkish glaucoma patients, MYOC.mt1 is not a risk factor for the development of POAG and is not associated with the phenotype and severity of glaucoma.											
131719		glaucoma	VISION	VIS	Glaucoma, Open-Angle	17	17q11.2-q12	NOS2A	23107918	23151682		Motallebipour, M.  et al. 2005	16288199			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDPinfo	4843	Hs.462525			Molecular vision [electronic resource]. 2005 Nov;11:950-7	The promoter of inducible nitric oxide synthase implicated in glaucoma based on genetic analysis and nuclear factor binding.		163730	18592	2	2005	 These results, together with other studies on this gene and the CCTTT-microsatellite, establish, for the first time, a genetic association of iNOS with POAG and suggest a regulatory function for the microsatellite.											
137299		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Lai, K. C.  et al. 2005	16289646				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Taiwan	CDC GDPinfo	7157	Hs.408312			European journal of surgical oncology. 2005 Dec;31(10):1135-40	Association of genetic polymorphisms of MK, IL-4, p16, p21, p53 genes and human gastric cancer in Taiwan.		191170	26724	2	2005	 Genetic susceptibility testing is a tool to evaluate the association of genetic polymorphisms with gastric cancer carcinogenesis.		alcohol									
141566		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Nassar, B. A.  et al. 2005	16298355				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			LastName. 2005	=>Author:Nassar, B. A. //Rockwood, K. //Kirkland, S. A. //Ransom, T. P. //Darvesh, S. //Macpherson, K. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Andreou, P. //Jeffery, J. S. //Cox, J. L. //Title, L. M.		163729	25366	2	2005	 While any single mutation causes only a mildly increased LR (none > 1.7), in combination, the likelihood of early-onset CAD increased to 2.78 with four mutations. The genetics of early-onset CAD appear to be multifactorial, requiring polygenic models to elucidate risk.											
127797		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Glas, J.  et al. 2005	16306764				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Inflammatory bowel diseases. 2005 Dec;11(12):1031-7	Association of Polymorphisms in the Interleukin-18 Gene in Patients With Crohn's Disease Depending on the CARD15/NOD2 Genotype.		600953	22473	2	2005	 In this study, significant differences of several genotypes and diplotypes within the IL-18 gene in CD depending on CARD15/NOD2 status have been found. In context with an increased expression of IL-18 in CD, it remains to be shown whether the expression of IL-18 is influenced by CARD15/NOD2 mutation status.											
121822		attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			16314756			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Psychiatric genetics. 2005 Dec;15(4):259-70	Linkage analysis and molecular haplotyping of the dopamine D4 receptor gene promoter region		126452	16429	2	2005	 The developed methods have been arranged into an 'economic' protocol that might be extended for higher reliability with a double haplotyping ('full mode'). Despite the close proximity of these sites, only a moderate linkage was found between the -615AG and -616CG (Delta(2)=0.162), between the -616AG and -521CT (Delta(2)=0.0221) and between the -615AG and -521CT single-nucleotide polymorphisms (Delta(2)=0.0346). The 120-bp duplication was shown to be in linkage equilibrium with any of the three single-nucleotide polymorphisms. Applications of these results should accelerate psychogenetic association studies of the dopamine D4 receptor gene.											
126352		cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	15	15q24.3	HOMER2	81314789	81412477			16314758				Homer homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004839.2	African American		CDC GDPinfo	9455	Hs.578443			Psychiatric genetics. 2005 Dec;15(4):277-83	Association of a polymorphism in the Homer1 gene with cocaine dependence in an African American population		604799	22239	2	2005	 The results of this study suggest that a polymorphism in the Homer1 gene, rs6871510, is a potential risk factor for the development of cocaine dependence in an African American population, whereas polymorphisms in the Homer2 gene are not.											
126350	Y	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	5	5q14.2	HOMER1	78705541	78845456			16314758				Homer homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004272.3	African American		CDC GDPinfo	9456	Hs.591761			Psychiatric genetics. 2005 Dec;15(4):277-83	Association of a polymorphism in the Homer1 gene with cocaine dependence in an African American population		604798	11327	2	2005	 The results of this study suggest that a polymorphism in the Homer1 gene, rs6871510, is a potential risk factor for the development of cocaine dependence in an African American population, whereas polymorphisms in the Homer2 gene are not.											
115755		betaxolol hydrochloride efficacy	VISION	VIS	glaucoma	10	10q24-q26	ADRB1	115793795	115796657			16325708				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Ophthalmology. 2005 Dec;112(12):2131-6	Beta1-adrenergic receptor polymorphisms and clinical efficacy of betaxolol hydrochloride in normal volunteers		109630	8526	2	2005	 In this small pilot series, a single nucleotide polymorphism at codon 389 in the beta1-AR seems to correlate with a response to betaxolol therapy in normal, nonglaucomatous volunteers. There was no such correlation at codon 49. The polymorphism at codon 389 may predict short-term response to betaxolol and may serve as a determinant of response to betaxolol and other adrenergic agents in glaucomatous eyes requiring treatment.	pilot pharmacogenomic association study										
119006	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Disease Progression	16	16q22.1	CDH1	67328695	67426945			16327305				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			Urologia internationalis. 2005 ;75(4):350-3	E-Cadherin Gene 3'-UTR C/T Polymorphism Is Associated with Prostate Cancer		192090	9339	2	2005	 The CDH-1 gene 3'-UTR C/T polymorphism is associated with prostate cancer. The 'CC' homozygote indicates a relatively higher risk for developing prostate cancer than other genotypes.											
121323		Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Susceptibility|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354			16344053				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3			CDC GDPinfo	9231	Hs.500245			Gastroenterology. 2005 Dec;129(6):1845-53	Association of Organic Cation Transporter Risk Haplotype With Perianal Penetrating Crohn's Disease but Not With Susceptibility to IBD		604090	21144	2	2005	DLG5 and OCTN do not play a role in the susceptibility to IBD, CD, or ulcerative colitis in the Flemish population but play a role in the phenotypic expression of the disease. OCTN variants were associated with perianal and penetrating CD. More studies in independent populations are urgently needed to assess the validity of DLG5 and OCTN in the pathogenesis of IBD.											
134576		Crohn's disease; ulcerative colitis; inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Susceptibility|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798			16344053				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Gastroenterology. 2005 Dec;129(6):1845-53	Association of Organic Cation Transporter Risk Haplotype With Perianal Penetrating Crohn's Disease but Not With Susceptibility to IBD		604190	25542	2	2005	DLG5 and OCTN do not play a role in the susceptibility to IBD, CD, or ulcerative colitis in the Flemish population but play a role in the phenotypic expression of the disease. OCTN variants were associated with perianal and penetrating CD. More studies in independent populations are urgently needed to assess the validity of DLG5 and OCTN in the pathogenesis of IBD.											
134584		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Progression|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202			16344054				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Gastroenterology. 2005 Dec;129(6):1854-64	The Contribution of OCTN1/2 Variants Within the IBD5 Locus to Disease Susceptibility and Severity in Crohn's Disease		603377	25545	2	2005	 The IBD5 locus influences susceptibility, progression, and need for surgery in CD. However, the contribution of OCTN1/2 variants is not independent of the IBD5 haplotype; a causative role for these genes remains plausible but is not yet proven. Further genetic, functional, and expression data are now required.											
134572		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Progression|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798			16344054				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDPinfo	6583	Hs.310591			Gastroenterology. 2005 Dec;129(6):1854-64	The Contribution of OCTN1/2 Variants Within the IBD5 Locus to Disease Susceptibility and Severity in Crohn's Disease		604190	23431	2	2005	 The IBD5 locus influences susceptibility, progression, and need for surgery in CD. However, the contribution of OCTN1/2 variants is not independent of the IBD5 haplotype; a causative role for these genes remains plausible but is not yet proven. Further genetic, functional, and expression data are now required.											
129886		bone density; fracture risk	METABOLIC	MET	Osteoporosis|Fractures, Bone	12	12p11-p13	LRP6	12160229	12311013			16355283				Low density lipoprotein receptor-related protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002336.1			CDC GDPinfo	4040	Hs.584775			Journal of bone and mineral research. 2006 Jan;21(1):141-50	Common genetic variation of the low-density lipoprotein receptor-related protein 5 and 6 genes determines fracture risk in elderly white men		603507	22780	2	2006	 In men, the LRP5 1330-valine variant was associated with decreased BMD at the lumbar spine and the femoral neck with evidence for an allele-dose effect (p = 0.001 and 0.01, respectively). The Val allele was also associated with decreased vertebral body size and femoral neck width. Haplotype analysis of studied polymorphisms did not improve the association found and suggested that the 1330 variant was driving the association. We observed a borderline significant association of the LRP6 Ile1062Val polymorphism with height and vertebral body size in males. Male carriers of the LRP5 1330-valine variant had a 60% increased risk for fragility fractures, and the LRP6 1062-valine allele also conferred a 60% higher risk. Carriers of both the risk alleles of LRP5 and 6 had a 140% (p = 0.004) higher risk compared with noncarriers of both risk alleles and accounted for 10% of the fractures in males. The fracture risks were independent of age, height, weight, and BMD. In women, all of these associations were weaker and less consistent compared with men. The polymorphisms that were found associated were both situated in potentially important domains of the receptor and show considerable evolutionary conservation, which is evidence for functional importance of these residues.											
138175		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasms, Second Primary	19	19q13.2	XRCC1	48739303	48771555			16369171				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			The Laryngoscope. 2005 Dec;115(12):2221-31	DNA Repair Gene Polymorphisms and Risk of Second Primary Neoplasms and Mortality in Oral Cancer Patients		194360	25794	2	2005	 Polymorphisms in the DNA repair enzyme gene XRCC3 241Met was associated with an increased risk of second neoplasms, and polymorphisms of the XRCC1 399Gln gene were associated with a decreased risk of all-cause mortality in patients with primary OSCC. These findings require confirmation in other populations before the clinical implications can be considered.											
138268		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Neoplasms, Second Primary	14	14q32.3	XRCC3	103233706	103251549			16369171				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			The Laryngoscope. 2005 Dec;115(12):2221-31	DNA Repair Gene Polymorphisms and Risk of Second Primary Neoplasms and Mortality in Oral Cancer Patients		600675	26775	2	2005	 Polymorphisms in the DNA repair enzyme gene XRCC3 241Met was associated with an increased risk of second neoplasms, and polymorphisms of the XRCC1 399Gln gene were associated with a decreased risk of all-cause mortality in patients with primary OSCC. These findings require confirmation in other populations before the clinical implications can be considered.											
137637		neuropathy, diabetic	NEUROLOGICAL	NEUR	Diabetic Neuropathies|Diabetes Mellitus, Type 1	11	11q13	UCP2	73363363	73371537			16373902				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDPinfo	7351	Hs.80658			Diabetes care. 2006 Jan;29(1):89-94	Functional polymorphisms of UCP2 and UCP3 are associated with a reduced prevalence of diabetic neuropathy in patients with type 1 diabetes		601693	23855	2	2006	 Our data indicate that both the G-866A polymorphism in the UCP2 gene and the C-55T polymorphism in the UCP3 gene are associated with a reduced risk of diabetic neuropathy in type 1 diabetes. Thus, the results presented here support the hypothesis that higher expression of uncoupling protein might prevent mitochondria-mediated neuronal injury and, ultimately, diabetic neuropathy.											
137666		neuropathy, diabetic	NEUROLOGICAL	NEUR	Diabetic Neuropathies|Diabetes Mellitus, Type 1	11	11q13	UCP3	73388984	73397778			16373902				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDPinfo	7352	Hs.101337			Diabetes care. 2006 Jan;29(1):89-94	Functional polymorphisms of UCP2 and UCP3 are associated with a reduced prevalence of diabetic neuropathy in patients with type 1 diabetes		602044	25748	2	2006	 Our data indicate that both the G-866A polymorphism in the UCP2 gene and the C-55T polymorphism in the UCP3 gene are associated with a reduced risk of diabetic neuropathy in type 1 diabetes. Thus, the results presented here support the hypothesis that higher expression of uncoupling protein might prevent mitochondria-mediated neuronal injury and, ultimately, diabetic neuropathy.											
130468		macular degeneration, age-related	VISION	VIS	Macular Degeneration	12	12p12.3-p12.1	MGST1	16391342	16408611			16384981				Microsomal glutathione S-transferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145792.1			CDC GDPinfo	4257	Hs.389700			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		138330	27546	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
138009		macular degeneration, age-related	VISION	VIS	Macular Degeneration	9	9p24	VLDLR	2611792	2644485			16384981				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3			CDC GDPinfo	7436	Hs.370422			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		192977	28027	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
128557		asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600			16387595				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Chinese		CDC GDPinfo	3566	Hs.513457			The Journal of allergy and clinical immunology. 2006 Jan;117(1):127-33	Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children		147781	25035	2	2006	 Our data suggest significant interactions between IL13 and IL4RA for asthma and IL13 and TARC for increased plasma total IgE concentrations in Chinese children.											
134753		attention deficit hyperactivity disorder	PSYCH	PSY	Pregnancy Complications|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543			16389200				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Archives of general psychiatry. 2006 Jan;63(1):74-81	A common haplotype of the dopamine transporter gene associated with attention-deficit/hyperactivity disorder and interacting with maternal use of alcohol during pregnancy		126455	19540	2	2006	 The identification of a common haplotype in 2 independent populations is an important step toward identifying functionally significant regions of DAT1. Interaction between DAT1 genotypes and maternal use of alcohol during pregnancy suggests that DAT1 moderates the environmental risk and has implications for the prevention of ADHD. Further studies are required to delineate the precise causal risk factor involved in this interaction.		alcohol, maternal smoking (tobacco), maternal									
129475		lactose intolerance	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220			16391332	( -13910)			Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			Clinical chemistry. 2006 Jan;52(1):148-51	Genotyping of the Lactase-Phlorizin Hydrolase -13910 Polymorphism by LightCycler PCR and Implications for the Diagnosis of Lactose Intolerance		603202	12126	2	2006	 The new real-time PCR assay provides a rapid, labor-saving means for the genotyping of LPH C-->T(-13910). Use of the assay may assist in differentiating patients with primary hypolactasia from those with secondary hypolactasia and lactose intolerance, who may need further clinical examinations to diagnose their underlying primary diseases.											
137414	Y	impulsivity; response inhibition	PSYCH	PSY		12	12q21.1	TPH2	70618892	70712488			16395128				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			Psychiatric genetics. 2006 Feb;16(1):35-38	Possible association between response inhibition and a variant in the brain-expressed tryptophan hydroxylase-2 gene		607478	19990	2	2006	 A genotype at an intron-8 tryptophan hydroxylase-2 polymorphism was associated with response inhibition as indexed by the Stop Task. These results, if replicated, would implicate dorsal raphe serotonin neurons in response inhibition. It may be that individuals with the T/T genotype may have reduced tryptophan hydroxylase-2 function and correspondingly lower central serotonin levels; however, further investigation of the reported association is required.											
115809	Y	High total IgE	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	P=0.009	Dewar JC 1997	9275150	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	201	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
115784	N	High total IgE. asthma. atopy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Dewar JC 1997	9275150	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	176	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
129556		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	7	7q31.3	LEP	127668566	127684917		Shigemoto M 1997	9405031				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Japanese	Japan	Y Wang	3952	Hs.194236	Complications		European journal of endocrinology. 1997 Nov;137(5):511-3	Molecular screening of both the promoter and the protein coding regions in the human ob gene in Japanese obese subjects with non-insulin-dependent diabetes mellitus.		164160	4240	1	1997	 These results suggest that no mutations in either the promoter region at the about 100 bp 5'-flanking region of the gene, or in any of the three exons, are involved in the development of NIDDM or IGT associated with obesity.											
138360	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Neuropathies|Chromosome Disorders|Diabetes Mellitus, Type 1|Chromosome Aberrations	9	9q22	ALDRL2				Heesom AE et al. 1998	9489533			promoter	aldehyde reductase (aldose reductase)-like 2				KGB	233				Journal of neurology, neurosurgery, and psychiatry. 1998 Feb;64(2):213-6	Susceptibility to diabetic neuropathy in patients with insulin dependent diabetes mellitus is associated with a polymorphism at the 5' end of the aldose reductase gene.			499	1	1998	 These results suggest that the aldose reductase gene is intimately involved in the pathogenesis of diabetic neuropathy.											
133697	Y	germline mutations	OTHER	OTH	Pheochromocytoma|Multiple Endocrine Neoplasia Type 2a	10	10q11.2	RET	42892522	42945803		Bar M et al. 1997	9497878				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			KGB	5979	Hs.350321			Clinical endocrinology. 1997 Dec;47(6):707-12	Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.		164761	5277	1	1997	 Most, if not all, patients with typical unilateral sporadic phaeochromocytoma do not have von Hippel-Lindau disease or MEN2. Thus, clinical and/or molecular investigation for von Hippel-Lindau disease and MEN2 in this patient population does not appear to be indicated.											
118394	Y	hepatitis	INFECTION	INF	Hepatitis, Animal|Hepatolenticular Degeneration	17	17q11.2	LEC	31327716	31332610		Klein D et al. 1998	9615909				chemokine (C-C motif) ligand 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC099663			KGB	6360	Hs.10458			European journal of clinical investigation. 1998 Apr;28(4):302-10	Association of copper to metallothionein in hepatic lysosomes of Long-Evans cinnamon (LEC) rats during the development of hepatitis [se e comments]			5359	1	1998	 We suggest that chronic copper toxicity in LEC rats involves the uptake of copper-loaded MT into lysosomes, where it is incompletely degraded and polymerizes to an insoluble material containing reactive copper. This copper, together with iron, initiates lysosomal lipid peroxidation, leading to hepatocyte necrosis. Subsequent to phagocytosis by Kupffer cells, the reactive copper may amplify liver damage either directly or through stimulation of these cells.											
140609	Y	long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Kanters JK et al. 1998	9654228			splice variant	potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Journal of cardiovascular electrophysiology. 1998 Jun;9(6):620-4	Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.		607542	4171	1	1998	 The clinical course of LQTS in the affected family members, in whom no deaths occurred despite 20 to 30 syncopes, can be explained by the ability of the cellular machinery to perform partial correct splicing in the mutant allele. This type of mutation may be misinterpreted as a normal variant, since it is a point mutation causing neither an amino acid change nor the introduction of a stop codon.											
123128	Y	scleroderma	OTHER	OTH	Scleroderma, Systemic	15	15q21.1	FBN1	46487796	46725210		Tan FK et al. 1998	9778214				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3	Native American	Oklahoma	KGB	2200	Hs.591133			Arthritis and rheumatism. 1998 Oct;41(10):1729-37	Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population.		134797	2568	1	1998	 A 2-cM haplotype on chromosome 15q that contains FBN1 is associated with scleroderma in Choctaw Native Americans from Oklahoma. This haplotype may have been inherited from common founders about 10 generations ago and may contribute to the high prevalence of SSc that is now seen.											
117007	Y	apolipoprotein C3 haplotype specified by the SstI polymorphism	OTHER	OTH	Hypertriglyceridemia	19	19q13.2	APOC2	50141082	50144658		Hoffer MJ et al. 1998	9792993				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			KGB	344	Hs.75615			European journal of clinical investigation. 1998 Oct;28(10):807-12	Increased risk for endogenous hypertriglyceridaemia is associated with an apolipoprotein C3 haplotype specified by the SstI polymorphism.		608083	642	1	1998	 The haplotype containing the SstI polymorphism is found five times more frequently among HTG patients (OR 5.28, 95% CI 1.65-16.90), which strongly suggests it is associated with an increased risk for severe hypertriglyceridaemia.											
142523	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Seidl C et al. 1999	10229395				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of rheumatology. 1999 Apr;26(4):773-6	Association of (Q)R/KRAA positive HLA-DRB1 alleles with disease progression in early active and severe rheumatoid arthritis.		142857	7888	1	1999	 The predisposing genetic pattern with disease associated HLA-DRB1 alleles did not profoundly influence the therapeutic outcome. Our data support the role of the HLA-DRB1 gene locus in disease modulation of RA. The genetic predisposition due to HLA-DRB1, however, may have only a limited influence on the therapeutic outcome in clinically severe cases of RA.											
130481	Y	psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gonzalez S et al. 1999	10323458	A9 triplet repeat			MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			KGB	4276	Hs.549053			Arthritis and rheumatism. 1999 May;42(5):1010-6	The MICA-A9 triplet repeat polymorphism in the transmembrane region confers additional susceptibility to the development of psoriatic arthritis and is independent of the association of Cw*0602 in psoriasis.		600169	4513	1	1999	 The data obtained in this study are consistent with the polygenic inheritance of psoriasis. Cw*0602 appears to be the stronger genetic susceptibility factor for psoriasis. Independent of the HLA-C association, MICA-A9 polymorphism corresponding to the MICA-002 allele is a possible candidate gene for the development of PsA.											
127340	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Eye Diseases	1	1q31-q32	IL10	205007570	205012462	0.02	Crawley E 1999	10366102	ATA haplotype. pts w/ >4 joints			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Arthritis and rheumatism. 1999 Jun;42(6):1101-8			124092	3790	1	1999	 The results of this study demonstrate the functional significance of the ATA haplotype and reveal a significant association of genotypes containing this haplotype with extended oligoarthritis.											
142397	Y	rheumatoid arthritis	IMMUNE	IMM	Joint Diseases|Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		del Rincon I et al. 1999	10403259				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Arthritis and rheumatism. 1999 Jul;42(7):1329-38	HLA-DRB1 alleles associated with susceptibility or resistance to rheumatoid arthritis articular deformities and disability in Mexican Americans.		142857	7762	1	1999	 HLA-DRB1 alleles containing the SE are associated with susceptibility to RA in Mexican Americans, and may also be associated with a more rapid development of articular deformities and disability. HLA-DRB1*08 appears to have a protective influence on RA susceptibility and disease severity in Mexican Americans.											
139415		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3A	159778174	159787005		Oh M 1999	10405934				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Caucasian		Y Wang	2214	Hs.372679			The Journal of rheumatology. 1999 Jul;26(7):1486-9	Frequency of the Fc gamma RIIIA-158F allele in African American patients with systemic lupus erythematosus.		146740	7045	1	1999	 In our African American study population, there did not appear to be any association of Fc gamma RIIA-158F or Fc gamma RIIA-131R with SLE.											
115774	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Ramsay CE 1999	10469027	Gly16Arg. Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 1999 Sep;29(9):1195-203			109690	166	1	1999	 The polymorphism at position 27 was associated with decreased airway responsiveness in the study population and the polymorphism at position 16 was associated with increased wheeze during respiratory infection, but neither was associated with physician-diagnosed asthma or any of the other variables considered.											
134802	Y	fibromyalgia	OTHER	OTH	Fibromyalgia	17	17q11.1-q12	SLC6A4	25549031	25586831		Offenbaecher M et al. 1999	10555044			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Arthritis and rheumatism. 1999 Nov;42(11):2482-8	Possible association of fibromyalgia with a polymorphism in the serotonin transporter gene regulatory region.		182138	5471	1	1999	 A higher frequency of the S/S genotype of 5-HTT was found in FM patients compared with healthy controls. The S/S subgroup exhibited higher mean levels of depression and psychological distress. These results support the notion of altered serotonin metabolism in at least a subgroup of patients with FM.											
119770		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Pullmann R Jr 1999	10609073				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			Y Wang	1493	Hs.247824			Clinical and experimental rheumatology. 1999 Nov-Dec;17(6):725-9	Cytotoxic T lymphocyte antigen 4 (CTLA-4) dimorphism in patients with systemic lupus erythematosus.		123890	1520	1	1999	 Our results indicate that the non-MHC linked CTLA-4 gene could confer susceptibility in SLE, as it does in various other autoimmune diseases (Hashimoto thyroiditis, Graves' disease, IDDM).											
141265	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Zanchi A et al. 2000	10652017				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Kidney international. 2000 Feb;57(2):405-13	Risk of advanced diabetic nephropathy in type 1 diabetes is associated with endothelial nitric oxide synthase gene polymorphism.		163729	7478	1	2000	 The findings of the case-control and family-based studies demonstrate clearly that DNA sequence differences in eNOS influence the risk of advanced nephropathy in type 1 diabetes.											
115881		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Candy G et al. 2000	10694184				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Black African	South Africa	KGB	154	Hs.591251			Journal of hypertension. 2000 Feb;18(2):167-72	Association analysis of beta2 adrenoceptor polymorphisms with hypertension in a Black African population.		109690	273	1	2000	 These data suggest that beta2AR polymorphism is not a risk factor for hypertension per se in this defined population. The possibility that the decreased prevalence of Glu27 in black South African populations explains blunted vasodilator responses to isoprenaline requires further study.											
136009		systemic sclerosis	OTHER	OTH	Scleroderma, Systemic|Genetic Predisposition to Disease	19	19q13.2	TGFB	46528490	46551656		Zhou X et al. 2000	10817561				transforming growth factor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X02812			KGB	7040	Hs.1103			Arthritis and rheumatism. 2000 May;43(5):1068-73	Microsatellites and intragenic polymorphisms of transforming growth factor beta and platelet-derived growth factor and their receptor genes in Native Americans with systemic sclerosis (scleroderma): a preliminary analysis showing no genetic association.			5832	1	2000	 The results of these preliminary analyses suggest that genetic anomalies of the TGFbeta1 and PDGF gene families are not likely to explain the dysregulation seen in SSc or to account for the susceptibility to SSc in this population.											
128316	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Chronic Disease	5	5q31.1	IL4	132037271	132046267	0.0006	Buchs N 2000	11035134	IL-4(2) higher in non-destructive RA			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			Rheumatology (Oxford, England). 2000 Oct;39(10):1126-31			147780	3627	1	2000	 This IL-4 VNTR gene polymorphism may be a protective factor for severe joint destruction in RA that could be used as a prognostic marker early in the course of the disease.											
129369	N	IgE	IMMUNE	IMM	Hypersensitivity, Immediate	12	12q22	KITLG	87410697	87498369	n	Heinzmann A 2000	11069563	G628T			KIT ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003994.4			KGB	4254	Hs.1048			Clinical and experimental allergy. 2000 Nov;30(11):1555-61			184745	4502	1		 We conclude from our data that genes in the chromosomal region 12q13-24 and in particular SCF are unlikely to exert a major effect on the induction of the atopic phenotype in our Caucasian population. However, we did not focus on the asthmatic and thereby inflammatory aspect of atopy which might explain these results in contradiction to previous studies.											
142475	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cho SH et al. 2000	11069565	DRB1*04, *07			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11)	Association of HLA-DRB1(*)07 and DRB1(*)04 to citrus red mite (Panonychus citri) and house dust mite sensitive asthma.		142857	7840	1	2000	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
118983	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colitis, Ulcerative	16	16q22.1	CDH1	67328695	67426945		Wheeler JM et al. 2001	11171827			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			KGB	999	Hs.461086			Gut. 2001 Mar;48(3):367-71	Hypermethylation of the promoter region of the E-cadherin gene (CDH1) in sporadic and ulcerative colitis associated colorectal cancer.		192090	1187	1	2001	 We have demonstrated hypermethylation of the promoter region in CDH1 in 46% of colorectal cancers studied. There was no difference between the UCACRC and SCRC groups. Just as there are specific differences in the genetic changes between UCACRC and SCRC, there is also likely to be a large degree of overlap among the genetic pathways of these cancers.											
134616	Y	diabetic nephropathy.	RENAL	REN	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus	1	1p35-p31.3	SCL2A1	43164105	43197088		Hodgkinson AD et al. 2001	11231353				solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516			KGB	6513	Hs.473721			Kidney international. 2001 Mar;59(3):985-9	Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy.		138140	5412	1	2001	 These results suggest that the GLUT1 gene together with the aldose reductase gene are associated with susceptibility to DN in patients with type 1 diabetes.											
127232	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	21	21q22.11	IFNGR2	33679168	33731696	n	Nakao 2001	11240951	Arg64Gln			Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			KCB	3460	Hs.517240			The Journal of allergy and clinical immunology. 2001 Mar;107(3):499-504			147569	3422	1	2001	 These results suggested that among IFNG and related genes, IFNG and IRF1 genes confer genetic susceptibility to atopic asthma in Japanese children.											
137610	Y	exercise efficiency	OTHER	OTH	Obesity	11	11q13	UCP2	73363363	73371537		Buemann B et al. 2001	11319648				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			KGB	7351	Hs.80658			International journal of obesity and related metabolic disorders. 2001 Apr;25(4):467-71	The association between the val/ala-55 polymorphism of the uncoupling protein 2 gene and exercise efficiency.		601693	6335	1	2001	 As the val/ala-55 polymorphism is located in a domain of the protein without any known function, the different exercise efficiency between the two genotypes most likely reflects a linkage disequilibrium with a functionally significant polymorphism in UCP2 or in the neighbouring UCP3 gene. The study suggests that variations in the UCP genes may affect not only basal metabolic rate but also influence energy costs of exercise.											
127917	N	Early Onset Periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Disease Susceptibility	2	2q14	IL1B	113303807	113310827	n	Hodge PJ 2001	11350506	IL1B +3953			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	European Caucasians	Europe	KGB	3553	Hs.126256			Journal of clinical periodontology. 2001 May;28(5):430-6			147720	3494	1	2001	 The lack of any association between the IL1 polymorphisms and GEOP, in the population presented here, brings into doubt the usefulness of these candidate genes as markers of susceptibility to this form of periodontitis.	Case:56; Control:56										
127364	Y	reactive arthritis	IMMUNE	IMM	Arthritis, Reactive	1	1q31-q32	IL10	205007570	205012462		Kaluza W et al. 2001	11352256			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Finnish	Finland	KGB	3586	Hs.193717	protection		Arthritis and rheumatism. 2001 May;44(5):1209-14	IL10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients.		124092	3814	1	2001	 IL10.G12 and G10 microsatellite alleles show a strong protective effect against the development of ReA in Finnish subjects. Since these polymorphic markers themselves do not have direct functional implications, they most likely mark promoter haplotypes with distinct functional properties, suggesting that differential production of IL-10 is an important susceptibility factor for the development of ReA.											
122660	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Thrombosis	11	11p11-q12	F2	46697330	46717631		Haslam N et al. 2001	11383586	G20210A			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Inflammatory bowel diseases. 2001 May;7(2):133-5	An investigation of the association of the prothrombin G20210A gene mutation and inflammatory bowel disease: Factor II and IBD.		176930	2455	1	2001	 There does not appear to be an association of the prothrombin gene mutation with IBD and therefore it is unlikely to be involved in the etiology of IBD.											
133867		peptic ulcer disease	OTHER	OTH	Helicobacter Infections|Peptic Ulcer|Dyspepsia|	1	1q21	CagA	151629131	151630173		Demirturk L et al. 2001	11422473				S100 calcium binding protein A8 (calgranulin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG739729		Turkey	KGB	6279	Hs.416073			Helicobacter. 2001 Jun;6(2):163-8	CagA status in dyspeptic patients with and without peptic ulcer disease in Turkey: association with histopathologic findings.		123885	5312	1	2001	 Development of more prominent gastritis and severe atrophy in CagA (+) patients is an indicator of the importance of CagA rather than H. pylori load. Therefore, we suggest that nonulcer dyspepsia patients should also be tested for CagA status along with the tests for H. pylori status; and a positive CagA testing should be considered as an indication for eradication treatment. If CagA is negative, further assesment should be performed to decide whether or not to treat the patient.											
119740	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q33	CTLA4	204440753	204446928	P=0.00470	Hizawa N 2001	11447385	C-318T (-318C)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			KCB	1493	Hs.247824			The Journal of allergy and clinical immunology. 2001 Jul;108(1):74-9			123890	1490	1	2001	 Our findings suggest that promoter polymorphisms of both CTLA4 and FCER1B are genetic factors that influence total serum IgE levels in patients with asthma. This supports the theory that variance in total serum IgE levels in patients with asthma is determined by mutations in multiple genes, each of which has a relatively small effect on the phenotype.											
122447	Y	urolithiasis	METABOLIC	MET	Urinary Calculi	6	6q25.1	ER	152170378	152466099		Chen WC et al. 2001	11564035				estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125			KGB	2099	Hs.208124			BJU international. 2001 Sep;88(4):432-6	The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men.			2438	1	2001	 Urolithiasis among men appears to be associated with AR gene CAG repeat and ER gene TA repeat polymorphisms, whereas there was no significant association among female stone patients. These sex hormone receptors seem to be related to the higher incidence of stone formation among men.											
129747	Y	Adiposity and Abdominal Obesity	METABOLIC	MET	Obesity	8	8p22	LPL	19841057	19869049	p=0.017????	Ukkola O 2001	11571596	Alpha 2A-ADR Dra I ?????			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Quebec	Quebec	TJB	4023	Hs.180878			International journal of obesity and related metabolic disorders. 2001 Sep;25(9):1332-9	Interactions among the glucocorticoid receptor, lipoprotein lipase and adrenergic receptor genes and abdominal fat in the Qu?bec Family Study.		609708	4292	1	2001	 There is an association between the GRL BclI polymorphism and increased AVF levels independent of the level of total body fat. The alpha 2-ADR DraI variant is associated with a lower cross-sectional area of abdominal total fat. Numerous interactions between GRL and ADR markers on overall adiposity and total abdominal fat as well as between GRL, LPL and ADR genes on overall adiposity, abdominal total and visceral fat suggest that the genetic architecture of body fat content and adipose tissue distribution is complex although some genes, like GRL, may have ubiquitous effects.											
142505		cryoglobulinemia	IMMUNE	IMM	Hepatitis C|Cryoglobulinemia|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Cacoub P et al. 2001	11592376	DR7, DR11			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322	hepatitis C virus		Arthritis and rheumatism. 2001 Sep;44(9):2118-24	Influence of HLA-DR phenotype on the risk of hepatitis C virus-associated mixed cryoglobulinemia.		142857	7870	1	2001	 Our results indicate that the presence of the DR11 phenotype is associated with a significantly increased risk for the development of type II MC in patients with chronic HCV infection. In contrast, HLA-DR7 appears to protect against the production of type II MC. These results suggest that the host's immune response genes may play a role in the pathogenesis of HCV-associated MC.											
117473	Y	mild HDN	OTHER	OTH	Hemorrhagic Disease of Newborn	7	7p14	AQP1	30917992	30931656		Joshi SR et al. 2001	11606828				Aquaporin 1 (channel-forming integral protein, 28kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198098.1		India	KGB	358	Hs.76152			Transfusion. 2001 Oct;41(10):1273-8	An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN.		107776	859	1	2001	 The kindred presented a fifth example of an AQP1 null allele, which was caused by a single nucleotide deletion leading to a shift in the reading frame beyond codon 78. A method of genotyping CO for Co(a) and Co(b) antigen phenotype prediction was presented.											
115960	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Insulin Resistance|Obesity|Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Takezaki T et al. 2001	11706779				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	KGB	155	Hs.2549			International journal of clinical oncology. 2001 Jun;6(3):117-22	Association of polymorphisms in the beta-2 and beta-3 adrenoceptor genes with risk of colorectal cancer in Japanese.		109691	299	1	2001	 These findings suggest that the BAR3 polymorphism may alter the susceptibility to colon cancer risk in obese subjects. To confirm this finding, a further study with a larger number of subjects is now required.											
115955	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Insulin Resistance|Obesity|Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Takezaki T et al. 2001	11706779				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	KGB	155	Hs.2549			International journal of clinical oncology. 2001 Jun;6(3):117-22	Association of polymorphisms in the beta-2 and beta-3 adrenoceptor genes with risk of colorectal cancer in Japanese.		109691	294	1	2001	 These findings suggest that the BAR3 polymorphism may alter the susceptibility to colon cancer risk in obese subjects. To confirm this finding, a further study with a larger number of subjects is now required.											
115813	Y	Steroid-requiring asthma in sedentary women	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	P=0.02	Barr RG 2001	11713122	Gly16 allele			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	U.S. (Nurses` Health Study)		KCB	154	Hs.591251			Chest. 2001 Nov;120(5):1474-9			109690	205	1	2001	 This exploratory analysis suggests an important gene/environment interaction for asthma involving physical activity level. Further study in larger populations is warranted to confirm if sedentary lifestyle unmasks a genetic risk for asthma.											
137827		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q12-q14	VDR	46521586	46585081		Ma X 2001	11729524				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			Y Wang	7421	Hs.524368	Complications		Chinese medical journal. 2001 Nov;114(11):1213-5	Vitamin D receptor gene polymorphism and bone mineral density in patients with type 2 diabetes mellitus.		601769	6474	1	2001	 These findings suggest a small influence of VDR gene polymorphism on the BMD of patients with type 2 DM. Further study on the value of VDR genotypes in the pathogenesis of osteoporosis in diabetes mellitus is still needed.											
131356		Esophageal Cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Shibuta J 2001	11774959				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese		TJB	10	Hs.2			The American journal of gastroenterology. 2001 Dec;96(12):3419-24			243400	23	1	2001	 These results suggest that N-acetylation polymorphism may be implicated as a genetic trait affecting an individual's susceptibility and biological behavior of esophageal squamous cell cancer.	Case:71; Control:329										
132046		dominant retinitis pigmentosa	OTHER	OTH	Retinitis Pigmentosa	14	14q11.1-q11.2	NRL	23619155	23654063		DeAngelis MM et al. 2002	11879142				Neural retina leucine zipper	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006177.2			KGB	4901	Hs.89606			Archives of ophthalmology. 2002 Mar;120(3):369-75	Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.		162080	4781	1	2002	 The 3 novel NRL mutations we discovered bring the total number of reported mutations in this gene to 6. Five of the 6 mutations affect residues 50 or 51, suggesting that these residues are important in a structural or functional domain of the encoded protein. CLINICAL RELEVANCE: Rod and cone function is affected to a similar degree in patients with these mutations. The disease caused by NRL mutations found in this study appears to be more severe than that caused by the rhodopsin mutation Pro23His and is similar in severity to that caused by the rhodopsin mutation Pro347Leu, even after correcting for age.											
137485		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	9	9q34	TSC1	134756556	134809841		Langkau N et al. 2002	12111193				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			KGB	7248	Hs.370854			European journal of pediatrics. 2002 Jul;161(7):393-402	TSC1 and TSC2 mutations in tuberous sclerosis the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.		605284	6280	1	2002	 the TSC1-TSC2 mutation ratio in our group of patients differs significantly from the 1:1 ratio previously predicted on the basis of linkage studies. There is an obvious paradox between the observed frequency of TSC1 mutations in familial cases and sporadic cases. An interestingly mild phenotype, observed in one of our TSC1 mutation carriers, led to the elaboration of a model that provides a plausible explanation for this paradox. We propose the presence of a very mildly affected patient group with TSC1-related disease who are not regularly detected by clinical diagnosis.											
137490		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis	16	16p13.3	TSC2	2037990	2078714		Langkau N et al. 2002	12111193				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			KGB	7249	Hs.90303			European journal of pediatrics. 2002 Jul;161(7):393-402	TSC1 and TSC2 mutations in tuberous sclerosis the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.		191092	6282	1	2002	 the TSC1-TSC2 mutation ratio in our group of patients differs significantly from the 1:1 ratio previously predicted on the basis of linkage studies. There is an obvious paradox between the observed frequency of TSC1 mutations in familial cases and sporadic cases. An interestingly mild phenotype, observed in one of our TSC1 mutation carriers, led to the elaboration of a model that provides a plausible explanation for this paradox. We propose the presence of a very mildly affected patient group with TSC1-related disease who are not regularly detected by clinical diagnosis.											
136502	Y	COPD	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Pulmonary Emphysema	6	6p21.3	TNF	31651328	31654091		Sakao S et al. 2002	12171811			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	low attenuation areas on high-resolution CT		Chest. 2002 Aug;122(2):416-20	Association of tumor necrosis factor-alpha gene promoter polymorphism with low attenuation areas on high-resolution CT in patients with COPD.		191160	5978	1	2002	 These results indicate that the TNF-alpha-308 allele 2 may be partly associated with the extent of emphysematous changes in patients with COPD.											
136497		Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	TNF	31651328	31654091		Louis E et al. 2002	12190096				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570	positive response to infliximab		Scandinavian journal of gastroenterology. 2002 Jul;37(7):818-24	A positive response to infliximab in Crohn disease: association with a higher systemic inflammation before treatment but not with -308 TNF gene polymorphism.		191160	5973	1	2002	 A positive clinical response to infliximab was associated with a higher CRP level before treatment in our population of Crohn disease patients, but there was no relevant association with -308 TNF gene polymorphism. We therefore suggest that CRP level may help to identify better candidates for infliximab treatment.											
131274	N	glaucoma	VISION	VIS	Glaucoma, Open-Angle|Exfoliation Syndrome	1	1q23-q24	GLC1A	169871179	169888396	n	Sjostrand A et al. 2002	12190780			promoter	myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC029261			KGB	4653	Hs.436037			Acta ophthalmologica Scandinavica. 2002 Aug;80(4):384-6	No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma.		601652	4648	1	2002	 The present investigation provides no evidence that the variable repeat located in the regulatory sequences of the glaucoma gene GLC1A is associated with the risk of developing POAG or exfoliation glaucoma.											
139406	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1		CD16A	159778174	159787005		Edberg JC et al. 2002	12209518				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			KGB	2214	Hs.372679			Arthritis and rheumatism. 2002 Aug;46(8):2132-40	Genetic linkage and association of Fcgamma receptor IIIA (CD16A) on chromosome 1q23 with human systemic lupus erythematosus.			2650	1	2002	 To our knowledge, these data are the first to demonstrate linkage and both family-based and case-control-based association of FcgammaRIIIA with SLE. These data provide genetic evidence supporting a role for the physiologically relevant single nucleotide polymorphism of the FcgammaRIIIA gene in the pathophysiology of this complex genetic disease.											
115827		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Jindra A et al. 2002	12361188				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			Blood pressure. 2002 ;11(4):213-7	Association analysis of Arg16Gly polymorphism of the beta2-adrenergic receptor gene in offspring from hypertensive and normotensive families.		109690	219	1	2002	 Our findings suggest that genetic variability of the beta2AR gene is implicated in predisposition to essential hypertension. However, the contradictory results between individual studies indicate that the action of the beta2AR gene is indirect, through multiple intermediate phenotypes and gene interactions.											
141834	Y	clinicopathological characteristics of hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	10	10q25.3	TCF7L2	114700200	114916060		Jiang Y et al. 2002	12378619				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			KGB	6934	Hs.588935			World journal of gastroenterology. 2002 Oct;8(5):804-7	Association of hTcf-4 gene expression and mutation with clinicopathological characteristics of hepatocellular carcinoma.		602228	5744	1	2002	 The high expression level of hTcf-4 in HCC, especially in tumors with metastasis, suggests that the over-expression of hTcf-4 gene may be closely associated with development and progression of HCC, but the mutation of this gene seemed to play less important role in this respect.											
126673	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Li J et al. 2002	12475403				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Zhonghua yi xue za zhi. 2002 Sep;82(17):1173-6	Association of 5-HT(2A) receptor polymorphism and attention deficit hyperactivity disorder in children		182135	3299	1	2002	 For the ADHD combined subtype, the T102T genotype is a protective factor and the T102C genotype is a risk factor. For the girl with ADHD combined subtype, the allele C102 is a disease-predisposing gene.											
116054		mitral valve prolapse syndrome	CARDIOVASCULAR	CARD	Mitral Valve Prolapse|Mitral Valve Insufficiency|Syndrome|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	<0.001	Chou HT 2002	12479284	T allele			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Chinese population of Taiwan	Taiwan	KEW	183	Hs.19383			The Journal of heart valve disease. 2002 Nov;11(6):830-6			106150	340	1	2002	 These findings suggest that the M235T polymorphism of the AGT gene is associated with MVPS in the Chinese population of Taiwan. The association of the TT genotype with MVPS is more noteworthy than an overall increase in the frequency of the T allele at the M235T locus.	Case:100; Control:100										
138085		McLeod syndrome	OTHER	OTH	Brain Diseases|Choreatic Disorders|Neuromuscular Diseases|Hematologic Diseases|Syndrome	X	Xp21.1	XK	37430051	37476322		Jung HH 2003	12823753				Kell blood group precursor (McLeod phenotype)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021083.2			KGB	7504	Hs.78919			Transfusion. 2003 Jul;43(7):928-38	McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.		314850	6528	1	2003	 Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.											
119094		lipid profile	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Bernstein MS 2003	12840632				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Medicine and science in sports and exercise. 2003 Jul;35(7):1124-9	No physical activity x CETP 1b.-629 interaction effects on lipid profile.		118470	1226	1	2003	 The effects of the CETP 1b.-629 A-C polymorphism on blood lipid concentrations appear to be unchanged by the different observed physical activity levels in a mostly sedentary population.											
136602	Y	chorioamnionitis	REPRODUCTION	REP	Pregnancy Complications|Chorioamnionitis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091	0.01	Simhan HN 2003	12850624			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African-American, European-American		KGB	7124	Hs.241570			Obstetrics and gynecology. 2003 Jul;102(1):162-6	Tumor necrosis factor-alpha promoter gene polymorphism -308 and chorioamnionitis.		191160	6078	1	2003	 Carriage of the TNFA2 allele is associated with a more than three-fold increased risk of clinical chorioamnionitis, even when accounting for important clinical and microbiologic risk factors.	Case:18; Control:131										
139718	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559	1e-07	Gottenberg JE 2003	12905478			coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	French		KGB	3123	Hs.534322			Arthritis and rheumatism. 2003 Aug;48(8):2240-5	In primary Sjogren's syndrome, HLA class II is associated exclusively with autoantibody production and spreading of the autoimmune response.		142857	7093	1	2003	 HLA class II markers confer genetic susceptibility to Sj??n's syndrome. The association between HLA and SS is restricted to patients with anti-SSA and/or anti-SSB antibodies; HLA is not associated with SS in patients without these autoantibodies. The absence of a difference in disease severity between groups 2 and 3, as well as the restricted association of HLA-DRB1*03 in group 3, strongly suggest that HLA alleles predispose to autoantibody secretion, without being associated with clinical outcome. HLA class II phenotype might support epitope spreading: HLA-DR15 favors anti-SSA synthesis, whereas HLA-DR3 is associated with both anti-SSA and anti-SSB production.	Case:149 patients; Control:222 controls										
131561		uveal melanoma.	OTHER	OTH	Melanoma|Uveal Neoplasms	17	17q11.2	NF1	26446120	26728821		Foster WJ 2003	12963615				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Archives of ophthalmology. 2003 Sep;121(9):1311-5	Status of the NF1 tumor suppressor locus in uveal melanoma.		162200	4680	1	2003	 Mutations of the NF1 gene may occasionally play a role in the pathogenesis of uveal melanoma.Clinical Relevance A search for biallelic NF1 mutations in uveal melanomas from patients with neurofibromatosis will be of interest to determine whether germline NF1 mutations may predispose to uveal melanoma.											
133021		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Malecki MT 2003	14581147	Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Poland	Y Wang	5468	Hs.162646			Diabetes research and clinical practice. 2003 Nov;62(2):105-11	The Pro12Ala polymorphism of PPARgamma2 gene and susceptibility to type 2 diabetes mellitus in a Polish population.		601487	5097	1	2003	 The frequency of the Pro12Ala PPARgamma2 polymorphism in the Polish population studied is similar to that in other Caucasian populations. In the case-control study, we were not able to confirm earlier reports that the Pro allele conferred an increased risk for development of T2DM. Moreover, the results of the stratified analysis suggest an opposite trend in late onset T2DM.											
136590		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Kidney Diseases|Anemia|Amyloidosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Maury CP 2003	14613268			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Arthritis and rheumatism. 2003 Nov;48(11):3068-76	Tumor necrosis factor alpha, its soluble receptor I~~~ and -308 gene promoter polymorphism in patients with rheumatoid arthritis with or without amyloidosis: implications for the pathogenesis of nephropathy and anemia of chronic disease in reactive amyloi		191160	6066	1	2003	 This study shows that circulating levels of TNFalpha and sTNFRI are significantly increased in RA patients with amyloidosis as compared with control RA patients without amyloidosis and that the increased levels may be implicated in the pathogenesis of certain disease manifestations, including anemia of chronic disease and renal pathology in reactive amyloidosis.											
115377	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Minushkina, L. O.  et al. 2003	14671555				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kardiologiia. 2003 ;43(12):71-5	[Genetic predictors of left ventricular hypertrophy: do polymorphisms of peroxisomeproliferator activated nuclear receptor genes play any role?]		106180	19029	2	2003	 There was no association between presence of LVH and polymorphic marker Pro12AIa. Carriers of 4a allele of a polymorphic marker ecNOS4a/4b of NOS3 gene, A allale of a polymorphic marker G7831A of ACE gene, and C allele of PPARA gene had significantly greater left ventricular myocardial mass index. Monofactorial regression analysis showed that degree of LVH was significantly related to age, duration of hypertension, maximal systolic blood pressure. No relationship was found between left ventricular mass index and smoking, maximal diastolic blood pressure, habitual systolic and diastolic blood pressure, duration of hypertension, presence of ischemic heart disease, diabetes. According to results of multifactorial analysis A allele of a polymorphic marker G7831A of ACE gene, age and maximal systolic blood pressure were while C allele of PPARA gene was not independently related to the presence of LVH.	Case:110 patients with hypertension with left verntricular:hypertrophy;Control:53 hypertensives without left ventricular hypertrophy										
141535		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Minushkina, L. O.  et al. 2003	14671555				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Kardiologiia. 2003 ;43(12):71-5	[Genetic predictors of left ventricular hypertrophy: do polymorphisms of peroxisomeproliferator activated nuclear receptor genes play any role?]		163729	23131	2	2003	 There was no association between presence of LVH and polymorphic marker Pro12AIa. Carriers of 4a allele of a polymorphic marker ecNOS4a/4b of NOS3 gene, A allale of a polymorphic marker G7831A of ACE gene, and C allele of PPARA gene had significantly greater left ventricular myocardial mass index. Monofactorial regression analysis showed that degree of LVH was significantly related to age, duration of hypertension, maximal systolic blood pressure. No relationship was found between left ventricular mass index and smoking, maximal diastolic blood pressure, habitual systolic and diastolic blood pressure, duration of hypertension, presence of ischemic heart disease, diabetes. According to results of multifactorial analysis A allele of a polymorphic marker G7831A of ACE gene, age and maximal systolic blood pressure were while C allele of PPARA gene was not independently related to the presence of LVH.	Case:110 patients with hypertension with left verntricular:hypertrophy;Control:53 hypertensives without left ventricular hypertrophy										
141689	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Minushkina, L. O.  et al. 2003	14671555				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Kardiologiia. 2003 ;43(12):71-5	[Genetic predictors of left ventricular hypertrophy: do polymorphisms of peroxisomeproliferator activated nuclear receptor genes play any role?]		170998	25448	2	2003	 There was no association between presence of LVH and polymorphic marker Pro12AIa. Carriers of 4a allele of a polymorphic marker ecNOS4a/4b of NOS3 gene, A allale of a polymorphic marker G7831A of ACE gene, and C allele of PPARA gene had significantly greater left ventricular myocardial mass index. Monofactorial regression analysis showed that degree of LVH was significantly related to age, duration of hypertension, maximal systolic blood pressure. No relationship was found between left ventricular mass index and smoking, maximal diastolic blood pressure, habitual systolic and diastolic blood pressure, duration of hypertension, presence of ischemic heart disease, diabetes. According to results of multifactorial analysis A allele of a polymorphic marker G7831A of ACE gene, age and maximal systolic blood pressure were while C allele of PPARA gene was not independently related to the presence of LVH.	Case:110 patients with hypertension with left verntricular:hypertrophy;Control:53 hypertensives without left ventricular hypertrophy										
129642		obesity	METABOLIC	MET	Obesity	15	15q21-q23	LIPC	56511466	56648364		Ko YL 2004	14709367			5' promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Taiwanese	Taiwan	KGB	3990	Hs.188630			Atherosclerosis. 2004 Jan;172(1):135-42	The interactive effects of hepatic lipase gene promoter polymorphisms with sex and obesity on high-density-lipoprotein cholesterol levels in Taiwanese-Chinese.		151670	4271	1	2004	 Analysis of our data revealed an independent association between the HL gene promoter polymorphisms and HDL-C levels in Taiwanese-Chinese. The data also suggests that the HL-514C/T and HL-250G/A polymorphisms interact with sex and obesity on HDL-C levels. The findings give clues for identifying high risk population in preventive medicine and clinical diagnosis. The subsequent impacts on treatment profiles and prognosis were derived from this study.											
136129		corneal dystrophies	OTHER	OTH	Corneal Dystrophies, Hereditary	5	5q31	TGFBI	135392596	135427406		Jin T 2004	14767905				Transforming growth factor, beta-induced, 68kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000358.1			KGB	7045	Hs.369397			Zhonghua yi xue yi chuan xue za zhi. 2004 Feb;21(1):32-4	Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies		601692	5839	1	2004	 R124H and R555W mutations in BIGH3 gene were found in the patients with Avellino and granular corneal dystrophies. Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulting from BIGH3 gene mutations. Condons 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies.											
136620		scleroderma	OTHER	OTH	Scleroderma, Systemic	6	6p21.3	TNF	31651328	31654091		Sato H 2004	14872499	-863A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Great Britain	KGB	7124	Hs.241570			Arthritis and rheumatism. 2004 Feb;50(2):558-64	The TNF-863A allele strongly associates with anticentromere antibody positivity in scleroderma.		191160	6096	1	2004	 We believe these findings may have importance both for the directional pathogenesis of scleroderma progression and for the treatment of scleroderma with anti-TNF agents.											
122443		coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6q25.1	ESR1	152053407	152466099		Pollak A 2004	14972425				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			European heart journal. 2004 Feb;25(3):240-5	Association of oestrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease.		133430	2434	1	2004	 The (TA)(n)length in the ER-alpha gene promoter region is associated with the angiographic severity of CAD in young patients.											
139746		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kilding R 2004	15022317				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	caucasian		KGB	3123	Hs.534322			Arthritis and rheumatism. 2004 Mar;50(3):763-9	Additional genetic susceptibility for rheumatoid arthritis telomeric of the DRB1 locus.		142857	7121	1	2004	 At least 1 additional non-DRB1 susceptibility locus for RA exists in an interval that encompasses the junction of the class III and I regions. This is a genomic segment of high linkage disequilibrium containing a large number of poorly characterized immunomodulatory genes.											
127113		hepatitis B	INFECTION	INF	Pregnancy Complications, Infectious|Hepatitis B|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Zhu, Q. R.  et al. 2005	15941525				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):236-9	[Relationship between cytokine gene polymorphism and susceptibility to hepatitis B virus intrauterine infection]		147570	11647	2	2005	 This study suggested the possibility that TNF-alpha-238 A allele and IFN-gamma + 874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4-590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10-1082 G allele seemed to be associated with preventive efficacy to HBV intrauterine infection.											
139926		H. pylori infection	INFECTION	INF	Helicobacter Infections	6	6p21.3	HLA-DRB1	32593131	32665559		Wen, G. S.  et al. 2005	15941540				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Zhonghua liu xing bing xue za zhi. 2005 Apr;26(4):286-9	[Immunogenetic analysis of human leukocyte antigen DRB1, DQB1 locus among Han ethnic children with Helicobacter pylori infection in Kunming]		142857	22174	2	2005	 These result suggested that HLA-DRB1 * 0901, DQB1 * 03032 might protect the H. pylori infection in Han ethnic population in Kunming.											
124179		obesity	METABOLIC	MET	Obesity	6	6q16	GPR145	100474507	100548820		Wermter, A. K.  et al. 2005	15941924				G protein-coupled receptor 145	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC038441			CDC GDPinfo	84539	Hs.558571			European journal of endocrinology. 2005 Jun;152(6):851-62	Mutation analysis of the MCHR1 gene in human obesity.		606111	16980	2	2005	 Our initial association of MCHR1 alleles/haplotype detected might be related to juvenile-onset obesity, conditional on a particular genetic and/or environmental background. Alternatively, we could not exclude the possibility that the initially detected association represented a false positive finding.											
141436		hypertension; blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Wolff, B.  et al. 2005	15942458	Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Germany	CDC GDPinfo	4846	Hs.511603			Journal of hypertension. 2005 Jul;23(7):1361-6	Endothelial nitric oxide synthase Glu298Asp gene polymorphism, blood pressure and hypertension in a general population sample.		163729	12879	2	2005	 In a population-based cohort of Caucasians covering a broad age range, the eNOS E298D polymorphism is neither associated with prevalent hypertension nor with systolic or diastolic BP. These results do not support the hypothesis that the E298D polymorphism contributes to the genetic susceptibility to hypertension.											
140975	Y	pregnancy loss, recurrent	REPRODUCTION	REP		1	1p36.3	MTHFR	11768373	11788702		Guan, L.  et al. 2005	15952129				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):330-3	[Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion]		607093	13703	2	2005	 The above findings suggest that genetic polymorphisms of PAI-1 4G/5G and MTHFR C677T were associated with RESA. They may have synergetic impact and present gene dosage effect on the susceptibility to the development of early spontaneous abortion.											
142824		neuropathy	NEUROLOGICAL	NEUR		M		MT-ND1				Wang, Y.  et al. 2005	15952130						Chinese		CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):334-6	[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients]		516000	18401	2	2005	 In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.											
142872		neuropathy	NEUROLOGICAL	NEUR		M		MT-ND4				Wang, Y.  et al. 2005	15952130						Chinese		CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):334-6	[Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients]		516003	23015	2	2005	 In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.											
136377		intima-media thickness	CARDIOVASCULAR	CARD	Carotid Stenosis	9	9q32-q33	TLR4	119506430	119519587		Norata, G. D.  et al. 2005	15953129				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of internal medicine. 2005 Jul;258(1):21-7	Effect of the Toll-like receptor 4 (TLR-4) variants on intima-media thickness and monocyte-derived macrophage response to LPS.		603030	19880	2	2005	 The presence of the D299G and T399I polymorphisms of the TLR-4 gene does not play a major role on the progression of carotid atherosclerosis. Macrophages from the subjects carrying the polymorphisms show an impaired response to LPS limited only to a IL-6 and COX-2.											
123381	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	8	8p22-p21.3	FGF20	16894704	16904045		Clarimon, J.  et al. 2005	15967032				Fibroblast growth factor 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019851.1	Greek		CDC GDPinfo	26281	Hs.199905			BMC neurology [electronic resource]. 2005 Jun;5:11	Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients.		605558	16696	2	2005	 Taken together, these findings suggest that common genetic variants in FGF20 are not a risk factor for PD in, at least, some European populations.											
131243		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	16	16p13.13-p13.12	MYH11	15704492	15858388		Zhu, Y. L.  et al. 2005	15968309				Myosin, heavy polypeptide 11, smooth muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002474.2			CDC GDPinfo	4629	Hs.460109			Beijing da xue xue bao Yi xue ban. 2005 Jun;37(3):236-9	[Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia]		160745	25338	2	2005	 Screening of common fusion genes by multiplex RT-PCR is an important tool which could provide useful and reliable molecular genetic information for the diagnosis and treatment of leukemia.											
122096	N	brain hemorrhage; brain aneurysm	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Aneurysm	9	9q33-q34.1	ENG	129617115	129656805		Peters, D. G.  et al. 2005	15976502				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1		Pennsylvania	CDC GDPinfo	2022	Hs.76753			Cerebrovascular diseases (Basel, Switzerland). 2005 ;20(2):96-100	A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage.		131195	10279	2	2005	 These data, from a population recruited in western Pennsylvania, support recent findings in Japanese and German populations that, despite earlier observation to the contrary, endoglin is not associated with IA. Furthermore, our study extends previous observations by demonstrating no association between endoglin and either IA or SAH regardless of whether data were stratified for modifiable risk factors such as smoking and hypertension.		blood pressure smoking (tobacco)									
116739		cholesterol, HDL; lipids; blood pressure, arterial	METABOLIC	MET	Hypertension|Hypercholesterolemia	11	11q23-q24	APOA1	116211678	116213548		Ma, Y. Q.  et al. 2005	15982502				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1		Hong Kong	CDC GDPinfo	335	Hs.93194			International journal of cardiology. 2005 Jul;102(2):309-14	Association of two apolipoprotein A-I gene MspI polymorphisms with lipid and blood pressure levels.		107680	8680	2	2005	 The 83T allele may be associated with a better lipid profile and blood pressure levels in this group of Chinese subjects.											
121817		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Szantai, E.  et al. 2005	15985158				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			BMC genetics [electronic resource]. 2005 Jun;6(1):39	The polymorphic nature of the human dopamine D4 receptor gene: a comparative analysis of knownvariants and a novel 27 bp deletion in the promoter region.		126452	16422	2	2005	 Remarkably, the deleted region contains consensus sequences of binding sites for several known transcription factors, suggesting that the different alleles may affect the transcriptional regulation of the gene. A comparison of methods and results for the allelic variations of the DRD4 gene in various ethnic groups is also discussed, which has a high impact in psychiatric genetic studies.											
133510		rheumatoid arthritis; Crohn's disease	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Van Oene, M.  et al. 2005	15986374				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Canadian	Canada	CDC GDPinfo	26191	Hs.535276			Arthritis and rheumatism. 2005 Jul;52(7):1993-8	Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations.		600716	19179	2	2005	 These observations confirm the association of RA susceptibility with the PTPN22 1858T allele. However, the data also reveal a lack of association between this variant and Crohn's disease, suggesting that the PTPN22 1858T allele is a risk allele for multiple, but not all, autoimmune diseases.											
117621		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3q22-q24	ATR	143650768	143780341		Heikkinen, K.  et al. 2005	15987455				Ataxia telangiectasia and Rad3 related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001184.2			CDC GDPinfo	545	Hs.271791			Breast cancer research. 2005 ;7(4):R495-501	Mutation analysis of the ATR gene in breast and ovarian cancer families.		601215	15379	2	2005	 The present study does not support a major role for ATR mutations in hereditary susceptibility to breast and ovarian cancer.											
124193	Y	personality traits	PSYCH	PSY		3	3p21.3	GPX1	49369612	49370795		Matsuzawa, D.  et al. 2005	15990458				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDPinfo	2876	Hs.76686			Neuropsychobiology. 2005 ;52(2):68-70	Functional polymorphism of the glutathione peroxidase 1 gene is associated with personality traits in healthy subjects.		138320	10877	2	2005	 This study reports that the functional polymorphism (Pro198Leu) in the GPX1 gene might be associated with openness to experience among the personality traits.											
124833		stomach cancer	CANCER	CAN	Stomach Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Nan, H. M.  et al. 2005	15991278				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		600436	26905	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
120513		stomach cancer	CANCER	CAN	Stomach Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Nan, H. M.  et al. 2005	15991278				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		108330	20937	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
137305		stomach cancer	CANCER	CAN	Stomach Neoplasms	17	17p13.1	TP53	7505821	7531642		Nan, H. M.  et al. 2005	15991278				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		191170	28019	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
142836		stomach cancer	CANCER	CAN	Stomach Neoplasms	M		MT-RNR1				Han, C. B.  et al. 2005	15996314								CDC GDPinfo					Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2005 May;27(5):260-4	[Mutation of mitochondrial 12S rRNA in gastric carcinomas and its significance]		561000	18416	2	2005	 Highly variant frequency of mitochondrial 12S rRNA may be associated with intestinal type of gastric cancer. Most parts of variations exist in both cancer and normal tissues and may not be characteristic of tumor specificity. However np652 G insertion and np716 T-G transversion may possess some molecular significance on gastric cancerogenesis. During the process of progression from normality through dysplasia to cancer, 12S rRNA tended to transit from homoplasmy (wild type) and heteroplasmy to homoplasmy (mutant type, np717 T-G).											
137251		dystonia, primary torsion	NEUROLOGICAL	NEUR		17	17p13.1	TP53	7505821	7531642		Wu, Q. H.  et al. 2005	16004824				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Ai zheng. 2005 Jul;24(7):898-902	[Application of oligonucleotide microarray primer extension to detection of p53 single nucleotide polymorphisms]		191170	14451	2	2005	 These results indicate that the arrayed primer extension techniques are useful in parallel detecting SNPs of genes of interest, which is not only sensitive and accurate but also miniaturized the assays when analyzing multiple DNA targets with minimal reagents.											
116013		sleep disorders; body mass; blood pressure, arterial	UNKNOWN	UNK	Sleep Apnea, Obstructive	8	8p12-p11.2	ADRB3	37939672	37943341		Zhang, L. Q.  et al. 2005	16009000				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2005 May;44(5):333-6	[Polymorphisms in the beta2 and beta3 adrenergic receptor genes in obstructive sleep apnea/hypopnea syndrome]		109691	20326	2	2005	 beta(3)-ADR polymorphism may be involved in the development of central obesity and may be related to OSAHS by the central obesity in male OSAHS subjects of North region Han population of China, and may be induce hypertension in OSAHS patients of the population indirectly through obesity and sleep apnea. On the contrary, beta(2)-ADR polymorphism may not be correlated with central obesity and OSAHS in the population.											
119860	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q33	CTLA4	204440753	204446928		Machida, H.  et al. 2005	16015687				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	CDC GDPinfo	1493	Hs.247824			World journal of gastroenterology. 2005 Jul;11(27):4188-93	Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese.		123890	9609	2	2005	 The results suggest that CTLA4 located at 2q33 is a determinant of UC and responsible for fistula formation in CD in the Japanese.											
140148		uveitis	IMMUNE	IMM	Eye Infections, Viral|HTLV-I Infections|Uveitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kaminagayoshi, T.  et al. 2005	16019679				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	CDC GDPinfo	3123	Hs.534322			Ocular immunology and inflammation. 2005 Apr-Jun;13(3-Feb):199-204	Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis.		142857	26187	2	2005	 The results suggest that HLA class I and class II genes do not contribute to susceptibility to HAU.											
127115		uveitis	IMMUNE	IMM	Uveitis, Intermediate	12	12q14	IFNG	66834816	66839788		Stanford, M. R.  et al. 2005	16024856				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The British journal of ophthalmology. 2005 Aug;89(8):1013-6	Are cytokine gene polymorphisms associated with outcome in patients with idiopathic intermediate uveitis in the United Kingdom?		147570	11650	2	2005	 These results show that disease outcome in intermediate uveitis may be partly determined by a complex interplay between cytokine genes and these results may have implications for future treatment with biological agents that target these cytokines.			IFNgamma	874TA or TT	IL-10	1082AA			Y		outcome in patients with idiopathic intermediate uveitis
130049		asthma; atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q35	LTC4S	179153591	179156119		Moissidis, I.  et al. 2005	16024972				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	African American		CDC GDPinfo	4056	Hs.631951			Genetics in medicine. 2005 Jul-Aug;7(6):406-10	Association of IL-13, RANTES, and leukotriene C4 synthase gene promoter polymorphisms with asthma and/or atopy in African Americans.		246530	25212	2	2005	 African American asthmatics/atopics had higher frequency of the TT mutant gene for the -1055 IL-13 SNP and of its mutant T allele. Regarding the -444 LTC4S SNP, there was a definite difference, although not statistically significant, with an OR of 2.1 for the mutant AC genotype in patients. If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans.											
139139		ulcer, gastric; repaglinide pharmacology; coagulation disorder	UNKNOWN	UNK		22	22q13.1	CYP2D6	40852444	40856827		Halling, J.  et al. 2005	16025294				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Faroese		CDC GDPinfo	1565	Hs.333497			European journal of clinical pharmacology. 2005 Aug;61(7):491-7	Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.		124030	25931	2	2005	 The frequency of CYP2D6 poor metabolizers is twofold higher among the Faroese population than other Caucasians, while the frequencies of Faroese subjects with decreased CYP2C19, CYP2C8 and CYP2C9 enzyme activity are the same as seen in other Caucasian populations. A possible consequence might be a higher incidence of side effects among Faroese patients taking pharmaceuticals that are CYP2D6 substrates.											
137961		kidney disease	RENAL	REN	Kidney Failure, Chronic|Disease Progression	6	6p12	VEGFA	43845930	43862201		Summers, A. M.  et al. 2005	16046504				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Nephrology, dialysis, transplantation. 2005 Nov;20(11):2427-32	VEGF -460 genotype plays an important role in progression to chronic kidney disease stage 5.		192240	20156	2	2005	 In this study, we have demonstrated an association between the VEGF -460 polymorphism and progression to CKD stage 5. The function of this polymorphism remains unclear although previous evidence suggests that promoter constructs containing this single nucleotide polymorphism (SNP) have been associated with increased activity. Clearly there is a role for TGF-beta1 in chronic kidney disease. However, this study found no associations with four TGF-beta1 polymorphisms in this cohort.											
125117	Y	diabetes, type 2; retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2	14	14q21-q24	HIF1A	61231991	61284729		Yamada, N.  et al. 2005	16046581				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2	Japanese	Japan	CDC GDPinfo	3091	Hs.509554			The Journal of clinical endocrinology and metabolism. 2005 Oct;90(10):5841-7	Genetic variation in the hypoxia-inducible factor-1alpha gene is associated with type 2 diabetes in Japanese.		603348	17155	2	2005	 This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and suggests that the P582S HIF-1alpha mutation should be assessed in larger studies as a risk factor for type 2 diabetes.											
127430		nasopharyngeal cancer	CANCER	CAN	Epstein-Barr Virus Infections|Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease|Inflammation	1	1q31-q32	IL10	205007570	205012462		Pratesi, C.  et al. 2005	16059673			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian	Italy	CDC GDPinfo	3586	Hs.193717			Cancer immunology, immunotherapy. 2006 Jan;55(1):23-30	Interleukin-10 and interleukin-18 promoter polymorphisms in an Italian cohort of patients with undifferentiated carcinoma of nasopharyngeal type.		124092	11729	2	2005	 This study was performed to improve the definition of the pathogenetic factors implicated in UCNT by addressing the correlation between cytokine polymorphisms and clinical parameters. This is the first study investigating the possible role of the IL-18 and IL-10 polymorphisms in the development and outcome of UCNT. In our genetic analysis there is no evidence for involvement of IL-10 promoter polymorphisms alone in the genetic predisposition to this tumor. On the other hand, IL18 genetic variants may represent a genetic risk factor for tumor aggressiveness.											
141069		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Mansilha, A.  et al. 2005	16061406				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			European journal of vascular and endovascular surgery. 2005 Nov;30(5):545-9	Genetic polymorphisms and risk of recurrent deep venous thrombosis in young people: prospectivecohort study.		607093	25292	2	2005	 In this study, the risk of recurrent deep venous thrombosis in young people was not related with the presence of FV G1691A, FII G20210A, MTHFR C677T or PAI-1 4G/5G polymorphisms.											
115569		blood pressure, arterial; heart rate	CARDIOVASCULAR	CARD	Hypertension|Substance Withdrawal Syndrome	4	4q21-q23	ADH1B	100446551	100461581			16078602				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Ter Arkh. 2005 ;77(6):54-60	[Alcohol-induced arterial hypertension and genetic polymorphism of alcohol-metabolizing enzymes]		103720	8442	2	2005	 Population of alcoholics from the Moscow Region had allele polymorphism ADG2. Genetic polymorphism AlDG2 is not typical for this group. Hypertensive reaction was registered in the majority of alcoholics in AWS. Higher systolic, pulse pressure and heart rate were significantly higher in the AWS group with genotype ADG2-1/1. Controlled alcohol withdrawal entails a significant reduction of AP and HR.											
121241		azoospermia; infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Chromosome Deletion|Sex Chromosome Aberrations	Y	Yq11.223	DAZ1	23684894	23754545		Yang, Y.  et al. 2005	16078663				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4	Chinese		CDC GDPinfo	1617	Hs.522868			Zhonghua nan ke xue. 2005 Jul;11(7):494-8	[Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZgene copy in the AZFc region of Y chromosome]		400003	16300	2	2005	 There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.											
124169		acute coronary syndrome	CARDIOVASCULAR	CARD		19	19q13.4	GP6	60216886	60241444		Qin, Q.  et al. 2005	16080811				Glycoprotein VI (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016363.3			CDC GDPinfo	51206	Hs.631589			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):622-6	[Association of matrix metalloproteinase-9 and platelet membrane glycoprotein VI polymorphisms with acute coronary syndrome]		605546	21541	2	2005	 Serum levels of MMP-9 and Fib were independent risk factors of ACS. There was an obvious relationship between the Bbeta-148C/T mutation and high Fib level. No significant difference between controls and ACS patients was found in the frequencies of MMP-9 C-1562T and G5564A, Fib Bbeta-148C/T and GPVI T13254C genotypes and alleles (P > 0.05).											
130678		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	11	11q22.3	MMP12	102238673	102250922		Eriksson, P.  et al. 2005	16082623				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDPinfo	4321	Hs.1695			The British journal of surgery. 2005 Nov;92(11):1372-6	Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion.		601046	19414	2	2005	 There was no evidence that any specific MMP polymorphism had a clinically significant effect on AAA expansion. The plasminogen system may have a small but clinically significant role in AAA development. Much larger studies would be needed to evaluate genes of smaller effect.											
121908	Y	muscular dystrophy	DEVELOPMENTAL	DEV		4	4q35	DUX4	191229360	191247457		Zhang, Y.  et al. 2005	16086272				Double homeobox, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012147.2			CDC GDPinfo	22947	Hs.553518			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):380-2	Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population.		606009	10227	2	2005	 The frequency of individuals having fewer numbers of D4Z4 repeats on chromosome 4q35 in Shanghai population is higher than that in Caucasian population although the short D4Z4 fragment on chromosome 4q35 is associated with facioscapulohumeral muscular dystrophy. These findings suggest that other factors may also contribute to facioscapulohumeral muscular dystrophy.											
138106	Y	lung cancer	CANCER	CAN		3	3p25	XPC	14161648	14195143		Hu, Z.  et al. 2005	16086280				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Chinese		CDC GDPinfo	7508	Hs.475538			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):415-8	[Association of two exonic genetic polymorphisms in the DNA repair gene XPC with risk of lung cancer in Chinese population]		278720	14807	2	2005	 These findings support the hypothesis that these two XPC variants may contribute to the risk of developing lung cancer.		smoking (tobacco)									
132268		cerebral infarct	CARDIOVASCULAR	CARD		17	17p13.3	PAFAH1B1	2443685	2535638		Zhang, X.  et al. 2005	16086290				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2			CDC GDPinfo	5048	Hs.77318			Zhonghua yi xue yi chuan xue za zhi. 2005 Aug;22(4):450-2	[Analysis of 994(G--> T) mutation in the plasma platelet-activating factor acetylhydrolase gene in the patients with cerebral infarction]		601545	18801	2	2005	 These findings show that the 994(G--> T) mutation of plasma PAF-AH gene may be an independent risk for atherosclerotic cerebral infarction, but not for lacunar infarction.											
131229		cardiomyopathy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic	11	11p11.2	MYBPC3	47309526	47330798		Perkins, M. J.  et al. 2005	16087648				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2			CDC GDPinfo	4607	Hs.524906			European heart journal. 2005 Nov;26(22):2457-62	Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy.		600958	23060	2	2005	 This study demonstrates that RAAS genotypes may modify the clinical phenotype of HCM in a disease gene-specific fashion rather than indiscriminately.											
130141		suicide	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Courtet, P.  et al. 2005	16094253				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Psychiatric genetics. 2005 Sep;15(3):189-93	The monoamine oxidase A gene may influence the means used in suicide attempts.		309850	18133	2	2005	 These results suggest that an excess of high-activity monoamine oxidase A gene promoter alleles may be associated with traits orienting suicidal behavior towards a violent act.											
128195		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Ohashi, J.  et al. 2005	16098232				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Thai		CDC GDPinfo	3557	Hs.81134			Malaria journal [electronic resource]. 2005 Aug;4:38	A functional polymorphism in the IL1B gene promoter, IL1B -31C>T, is not associated with cerebral malaria in Thailand.		147679	22550	2	2005	 The present results suggest that IL1B -31C>T and IL1RA VNTR polymorphisms do not play a crucial role in susceptibility or resistance to cerebral malaria.											
118854	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	5	5q22-q32	CD14	139991500	139993439		Takeuchi, K.  et al. 2005	16109674				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Acta oto-laryngologica. 2005 Sep;125(9):966-71	A CD14 gene polymorphism is associated with the IgE level for Dermatophagoides pteronyssinus.		158120	9291	2	2005	 CD14/-159 plays a role in sensitization to Dermatophagoides pteronyssinus in Japanese patients with allergic rhinitis. OBJECTIVE: An association between a polymorphism in the 5'-flanking region of the CD14 gene and atopic phenotypes has been identified in a pediatric American population and an adult Dutch population. The aim of this study was to determine whether the CD14/-159 polymorphism is associated with specific IgE levels in allergic rhinitis patients in a Japanese population. MATERIAL AND METHODS: The CD14/-159 genotypes of 81 unrelated patients with allergic rhinitis and 78 healthy subjects were determined and compared. The total IgE level and the specific IgE levels for three aeroallergens were determined. The IgE levels for each genotype were compared. RESULTS: The frequencies of CD14/-159 genotypes did not differ between the two groups. Among the allergic rhinitis patients, TT homozygotes had significantly fewer positive CAP-radioallergosorbent tests (CAP-RASTs) than CC homozygotes and CT heterozygotes, suggesting that the C allele is dominant. TT homozygotes also had significantly lower CAP-RAST scores for Dermatophagoides pteronyssinus, but not for Cryptomeria japonica or Dactylis glomerata, than CC homozygotes and CT heterozygotes. There was no significant association between total serum IgE levels and CD14/-159 genotypes in the allergic rhinitis patients.											
137277		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genomic Instability	17	17p13.1	TP53	7505821	7531642		Westra, J. L.  et al. 2005	16110022				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Journal of clinical oncology. 2005 Aug;23(24):5635-43	Determination of TP53 mutation is more relevant than microsatellite instability status for the prediction of disease-free survival in adjuvant-treated stage III colon cancer patients.		191170	23789	2	2005	 Both mutant TP53 and MSI-H seem to be prognostic indicators for disease-free survival, but only TP53 retains statistical significance after adjusting for clinical heterogeneity. Thus, in adjuvantly treated patients with stage III colon cancer, presence or absence of a TP53 mutation should be considered as a better predictor for DFS than MSI status.											
141720		cleft lip with cleft palate; cleft lip without cleft palate; cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	11	11q23	PVRL1	119014017	119104645		Turhani, D.  et al. 2005	16122939				Hypothetical protein MGC16207	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002855.4			CDC GDPinfo	5818	Hs.334846			Journal of cranio-maxillo-facial surgery. 2005 Oct;33(5):301-6	Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate.		600644	23319	2	2005	 These results suggest that a simultaneous occurrence of PVRL1 and CLPTM 1 gene mutations in cleft patients does not correlate with the type of cleft (left, right, bilateral) or the gender of the patients. If a combination of the intron change IVS7-10G/A, exon changes Gly331Gly, Ala88Ala and Pro309Pro of the CLMPT 1 gene and Glu441-Gly442 ins Glu mutation of the PVRL 1 gene could be a genetic factor for non-syndromic clefts of the primary and the secondary palates, it is important to investigate more patients and controls.											
120175		hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Tang, W.  et al. 2005	16126185				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Chinese		CDC GDPinfo	1585	Hs.632054			Clinica chimica acta; international journal of clinical chemistry. 2006 Feb;364(2-Jan):222-5	Association of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi minorities of China.		124080	9702	2	2005	 The -344C allele of the CYP11B2 may play a role in genetic predisposition to developing essential hypertension in Hani and Yi minorities of China.											
129364		gastrointestinal cancer	CANCER	CAN	Gastrointestinal Stromal Tumors	4	4q11-q12	KIT	55218917	55301612		Martin, J.  et al. 2005	16135486				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDPinfo	3815	Hs.479754			Journal of clinical oncology. 2005 Sep;23(25):6190-8	Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for SarcomaResearch (GEIS).		164920	18878	2	2005	 Deletions affecting codons 557 to 558 are relevant for the prognosis of RFS in GIST patients. This critical genetic alteration should be considered to be a new prognostic stratification variable for randomized trials exploring imatinib mesylate in the adjuvant setting in GIST patients.											
139430		rheumatoid arthritis; psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005		Tutuncu, Z.  et al. 2005	16142749				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Arthritis and rheumatism. 2005 Sep;52(9):2693-6	Fcgamma receptor type IIIA polymorphisms influence treatment outcomes in patients with inflammatory arthritis treated with tumor necrosis factor alpha-blocking agents.		146740	10656	2	2005	 These results suggest that FcgammaRIIIA-158 polymorphisms may affect the outcome of treatment with TNF blocking agents. Better understanding of the factors affecting responses to these agents could result in improved outcomes of treatment.		tumor necrosis factor alpha-blocking agents									
139498		periodontal disease	IMMUNE	IMM		1	1q23	FCGR3B	159859676	159867525		Xie, Y. F.  et al. 2005	16155708				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Shanghai kou qiang yi xue. 2005 Aug;14(4):407-10	[Analysis of FcgammaRIIIb genotype of periodontal disease in the Han nationality in China]		610665	16680	2	2005	 Including FcgammaRIIIb-NA1 and -NA2, five alternate allele of -NA1 (-NA1*01b, -NA1*02a, -NA1*02b, -NA1*03a and-NA1*03b) and three alternate allele of -NA2(-NA2*02, -NA2*03 and -NA2*04) were described. The results suggest that FcgammaRIIIb may not be a risk indicator for the susceptibility of periodontitis in the Han nationality of China.											
141443		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Jo, I.  et al. 2005	16157324	T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Clinica chimica acta; international journal of clinical chemistry. 2006 Mar;365(2-Jan):86-92	Interaction between -786TC polymorphism in the endothelial nitric oxide synthase gene and smoking for myocardial infarction in Korean population.		163729	12888	2	2005	 Each of 3 mutations (-786TC, -922AG, or -1468TA) in the 5'-flanking region of eNOS gene may play a role in the pathogenesis of MI in Korean population, and also provides an evidence for a significant interaction between these mutations and smoking.		smoking (tobacco)									
118880		IgE levels	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Eder, W.  et al. 2005	16159630	(-260 )			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			The Journal of allergy and clinical immunology. 2005 Sep;116(3):601-7	Opposite effects of CD 14/-260 on serum IgE levels in children raised in different environments.		158120	15687	2	2005	 Because CD 14 is a pattern recognition receptor for microbial molecules, the results suggest that the type and concentrations of such molecules present in the environment strongly determine the direction of the association between CD 14/-260 and serum markers of atopy.		aeroallergens									
132561		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Wu, G.  et al. 2005	16168105				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDPinfo	5290	Hs.642725			Breast cancer research. 2005 ;7(5):R609-16	Somatic mutation and gain of copy number of PIK3CA in human breast cancer.		171834	18898	2	2005	 Somatic mutation rather than a gain of gene copy number of PIK3CA is the frequent genetic alteration that contributes to human breast cancer progression. The frequent and clustered mutations within PIK3CA make it an attractive molecular marker for early detection and a promising therapeutic target in breast cancer.											
122609		Factor XII deficiency	HEMATOLOGICAL	HEM	Factor XII Deficiency|Chromosome Deletion|Syndrome	5	5q33-qter	F12	176761746	176764079		Kurotaki, N.  et al. 2005	16170239				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDPinfo	2161	Hs.1321			Genetics in medicine. 2005 Sep;7(7):479-83	Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguousgene syndrome incorporating coagulation factor twelve (FXII) deficiency.		234000	10451	2	2005	 FXII activity in SoS patients with the common deletion is predominantly determined by the functional polymorphism of the remaining hemizygous FXII allele. Thus, Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.											
140818		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	15	15q26	MEF2A	97923737	98071524		Kajimoto, K.  et al. 2005	16195615				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1	Japanese	Japan	CDC GDPinfo	4205	Hs.268675			Circulation journal. 2005 Oct;69(10):1192-5	Assessment of MEF2A mutations in myocardial infarction in Japanese patients.		600660	18227	2	2005	 MEF2A polymorphism does not contribute appreciably to MI in the Japanese population.											
140838		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	22	22q11.23	MIF	22566564	22567409		Radstake, T. R.  et al. 2005	16200611				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			Arthritis and rheumatism. 2005 Oct;52(10):3020-9	Correlation of rheumatoid arthritis severity with the genetic functional variants and circulating levels of macrophage migration inhibitory factor.		153620	18269	2	2005	 The MIF polymorphisms are not associated with RA susceptibility but are associated with high levels of radiologic joint damage. High circulating MIF levels were shown to correlate strongly with radiologic joint damage, suggesting that MIF expression is genetically determined and can be used as a novel prognostic tool in RA.											
137993		bleeding complications	METABOLIC	MET	Genetic Predisposition to Disease|Hemorrhage	16	16p11.2	VKORC1	31009675	31013777		Reitsma, P. H.  et al. 2005	16201835				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDPinfo	79001	Hs.324844			PLoS medicine. 2005 Oct;2(10):e312	A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk.		608547	20169	2	2005	 These findings encourage taking further steps towards the evaluation of the use of VKORC1 genetic testing for bleeding prevention in individuals who receive VKA therapy.		vitamin K antagonist therapy									
140447		myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Ortlepp, J. R.  et al. 2005	16207551				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			International journal of cardiology. 2005 Oct;105(1):90-5	Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years.		147620	22591	2	2005	 Certain GRF might have additive but small effects on the disposition for MI before the age of 65. In older patients the tested GRF had no effect, possibly indicating a mechanism of aging rather than a purely genetic determined entity. Given the small effect of the tested genetic polymorphisms the value of testing GRF remains uncertain.											
133068		weight maintenance	METABOLIC	MET	Obesity|Weight Loss	3	3p25	PPARG	12304348	12450855		Vogels, N.  et al. 2005	16210701				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			The American journal of clinical nutrition. 2005 Oct;82(4):740-6	Relation of weight maintenance and dietary restraint to peroxisome proliferator-activated receptor gamma2, glucocorticoid receptor, and ciliary neurotrophic factor polymorphisms.		601487	25452	2	2005	 The different genotypes of the PPARgamma2 and GRL genes contribute to WM, either directly (GRL) or indirectly (PPARgamma2 and GRL) via baseline body mass index and waist circumference, and to changes in Three-Factor Eating Questionnaire scores.											
130464		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Cardiovascular Diseases|Calcinosis	12	12p13.1-p12.3	MGP	14926093	14930095		Brancaccio, D.  et al. 2005	16210837				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDPinfo	4256	Hs.365706			American journal of nephrology. 2005 Nov-Dec;25(6):548-52	Matrix GLA Protein Gene Polymorphisms: ClinicalCorrelates and Cardiovascular Mortality in Chronic Kidney Disease Patients.		154870	12361	2	2005	 This study suggests that CKD and HD patients have a different distribution of MGP gene polymorphism as compared with the normal population. Altered MGP gene polymorphism may be a negative prognostic factor for the progression to end-stage renal disease and for cardiovascular events in CKD patients.											
141531		kidney transplant complications	IMMUNE	IMM	Renal Artery Obstruction|Atherosclerosis	7	7q36	NOS3	150319079	150342609		Ozdemir, F. N.  et al. 2005	16213264				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDPinfo	4846	Hs.511603			Transplantation proceedings. 2005 Sep;37(7):2929-32	Angiotensin-converting enzyme and endothelial constitutive nitric oxide synthase polymorphisms in Turkish renal transplant population and possible influence on renal artery atherosclerosis and graft survival.		163729	23127	2	2005	 Renin-angiotensin system gene polymorphism analysis of patients in renal transplantation waiting list may provide information about allograft survival and posttransplant atherosclerotic degeneration at graft vasculature of young transplant recipients.											
126362		heart anomalies, congenital	CARDIOVASCULAR	CARD		12	12q13.3	HOXC5	52696908	52715411		Gong, L.  et al. 2005	16215934				Homeo box C5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018953			CDC GDPinfo	3222	Hs.549040			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):497-501	Analysis of single nucleotide polymorphisms and haplotypes in HOXC gene cluster within susceptible region 12q13 of simple congenital heart disease.		142973	22241	2	2005	 The A17860G located in 3'flanking sequence of HOXC5 gene is associated with simple CHD; the risk of CHD in the persons with G17860 is higher than that in those with A17860. the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD.											
140269		heart anomalies, congenital	CARDIOVASCULAR	CARD		12	12q13.3	HOXC4	52696908	52736081		Gong, L.  et al. 2005	16215934				homeo box C4				CDC GDPinfo	3221	HS.820			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):497-501	Analysis of single nucleotide polymorphisms and haplotypes in HOXC gene cluster within susceptible region 12q13 of simple congenital heart disease.		142974	11330	2	2005	 The A17860G located in 3'flanking sequence of HOXC5 gene is associated with simple CHD; the risk of CHD in the persons with G17860 is higher than that in those with A17860. the haplotype of 3 SNPs may be linked with the susceptible gene of simple CHD.											
123335		cerebral infarction	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Wang, S.  et al. 2005	16215953				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDPinfo	2244	Hs.300774			Zhonghua yi xue yi chuan xue za zhi. 2005 Oct;22(5):572-4	[Correlation between fibrinogen polymorphisms and the type of cerebral infarction]		134830	10702	2	2005	 FgB beta -148 and 448 mutational genotypes have impact on Fg concentration??nd therefore increase the risk of MCI.											
138317		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Faul, T.  et al. 2005	16225675				Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2			CDC GDPinfo	29801	Hs.63128			BMC psychiatry [electronic resource]. 2005 Oct;5:35	ZDHHC8 as a candidate gene for schizophrenia:analysis of a putative functional intronic marker in case-control and family-based association studies.		608784	20217	2	2005	 The findings on rs175174 at ZDHHC8 are still far from being conclusive, but evidence for sexual dimorphism is moderate, and our data do not support a significant genetic contribution of rs175174 to the aetiopathogenesis of schizophrenia.											
128845	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q12.1	IPF1	27392177	27397394		Karim, M. A.  et al. 2005	16229747			promoter	Insulin promoter factor 1, homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000209.1	African American		CDC GDPinfo	3651	Hs.32938			BMC medical genetics [electronic resource]. 2005 Oct;6:37	Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans.		600733	17823	2	2005	 The common alleles of regulatory variants in the 5' enhancer and promoter regions of the IPF1 gene increase susceptibility to type 2 diabetes among African American individuals, likely as a result of gene-gene or gene-environment interactions. In contrast, IPF1 is not a cause of type 2 diabetes in Caucasians. A previously described InsCCG243 variant may contribute to diabetes susceptibility in African American individuals, but is of low penetrance.											
129573		metabolic rate; respiratory quotient	METABOLIC	MET		7	7q31.3	LEP	127668566	127684917		Loos, R. J.  et al. 2005	16231024				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDPinfo	3952	Hs.194236			International journal of obesity (2005). 2006 Jan;30(1):183-90	Polymorphisms in the leptin and leptin receptor genes in relation to resting metabolic rate and respiratory quotient in the Qu????bec Family Study.		164160	12153	2	2005	 These findings suggest that DNA sequence variation in the LEPR gene contributes to human variation in RMR and in the relative rates of substrate oxidation during low-intensity exercise in steady state but not in a resting state.			LEPR		RQ45				Y		resting metabolic rate and respiratory quotient
139934		hepatitis B	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Han, Y. N.  et al. 2005	16237774				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			World journal of gastroenterology. 2005 Sep;11(36):5721-4	Relationship of human leukocyte antigen class II genes with the susceptibility to hepatitis B virus infection and the response to interferon in HBV-infected patients.		142857	22182	2	2005	 The polymorphism of HLA class II may influence the susceptibility to HBV infection and the response to IFN in studied CHB patients. Compared with other HLA-DRB1 alleles, HLA-DRB1*06, DRB1*08, and DRB1*16 may be associated with chronicity of HBV infection, HLA-DRB1*07 with protection against HBV infection, and HLA-DRB1*14 allele may be associated with a high rate of the response of CHB patients to IFN treatment. Compared with other HLA-DQB1 alleles, HLA-DQB1*07 may be associated with low response rate to IFN.		interferon									
118860		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Sackesen, C.  et al. 2005	16266379			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Turkish	Turkey	CDC GDPinfo	929	Hs.163867			Allergy. 2005 Dec;60(12):1485-92	The effect of polymorphisms at the CD14 promoter and the TLR4 gene on asthma phenotypes in Turkish children with asthma.		158120	9298	2	2005	 Our study demonstrates that the CD14-C159T promoter variant influences total IgE levels and also indicates that the T allele has a more profound effect on total IgE in children with atopic asthma. Polymorphisms in the TLR4 gene may be associated with milder forms of disease in atopic asthmatics in the population studied.											
130652		breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Lymphatic Metastasis|Disease Progression	11	11q22.3	MMP1	102165860	102174104		Przybylowska, K.  et al. 2005	16267613			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Breast cancer research and treatment. 2005	Polymorphisms of the promoter regions of matrix metalloproteinases genes MMP-1 and MMP-9 in breast cancer.		120353	12430	2	2005	 The results suggest that MMP-1 is responsible for the local invasion and MMP-9 is associated with the malignance and the growth of the tumor. We suggest that the 2G allele of the 1G/2G MMP-1 gene polymorphism may be associated with the lymph node metastasis in patients with breast cancer and therefore it can be considered as a progression marker in this disease.											
119868		liver transplantation, immunosuppression after	IMMUNE	IMM	Acute Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Tapirdamaz, O.  et al. 2005	16299026				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Gut. 2005	Polymorphisms in the T-cell regulatory gene CTLA-4 influence the rate of acute rejection after liver transplantation.		123890	9617	2	2005	 The CTLA-4 +49A/+6230G haplotype, which encodes for normal mCTLA-4 expression but reduced sCTLA-4 production, is a co-dominant risk allele for acute rejection after clinical liver transplantation. This implies that even under immunosuppression, CTLA-4 is critically involved in the regulation of the human immune response to allogeneic grafts.											
139938		sensorineural hearing loss	OTHER	OTH	Hearing Loss, Sensorineural|Hearing Loss, Sudden|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Amor-Dorado, J. C.  et al. 2005	16303674				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish		CDC GDPinfo	3123	Hs.534322			Acta oto-laryngologica. 2005 Dec;125(12):1277-82	Human leukocyte antigen-DQB1 and -DRB1 associations in patients with idiopathic sudden sensorineural hearing loss from a defined population of Northwest Spain.		142857	22186	2	2005	 The results of this study support the assertion that Southern European individuals have a genetically mediated predisposition to develop idiopathic sudden sensorineural hearing loss (SNHL). OBJECTIVE: To assess the influence of human leukocyte antigen (HLA)-DQB1 and -DRB1 alleles on the susceptibility to and the severity of idiopathic sudden SNHL. MATERIAL AND METHODS: A prospective study of patients diagnosed with idiopathic sudden SNHL between October 2000 and September 2002 was conducted. Patients were included in the study if they were diagnosed with idiopathic sudden SNHL within 1 week after the onset of deafness symptoms and had been followed for at least 12 months. HLA-DQB1 and -DRB1 typing was performed from DNA using molecular-based methods on patients and ethnically matched healthy controls. RESULTS: Thirty-three patients fulfilled the inclusion criteria. No significant differences in HLA-DQB1 phenotype frequencies were found between patients and controls (n = 145). Carriage of HLA-DRB1*0403 was significantly increased in the whole group of patients compared with controls (OR = 11.97; 95% CI 1.99-91.60; p = 0.002; p(corr) = 0.04). In patients without auditory improvement the frequency of the HLA-DRB1*04 phenotype was significantly increased compared with healthy controls (OR = 6.57; 95% CI 1.62-26.70; p = 0.003; p(corr) = 0.04).											
131542		diabetes, type 2	METABOLIC	MET		2	2q32	NEUROD1	182249438	182253626			16321269				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Chinese		CDC GDPinfo	4760	Hs.72981			Zhonghua yi xue za zhi. 2005 Sep;85(35):2463-7	[Contribution of MODY6 gene in the pathogenesis of familial type 2 diabetes in Chinese population.]		601724	18552	2	2005	 A4T5 polymorphism of NeuroD1/BETA2 gene is correlated with familiar type 2 diabetes in Chinese population. NeuroD1/BETA2 gene or its nearby gene may play a role in the pathogenesis of familiar type 2 diabetes. The novel GlyArg mutation may be a genetic cause of some diabetic pedigrees.											
131128		triglycerides; cholesterol, LDL; lipoproteins	METABOLIC	MET		4	4q24	MTTP	100715003	100763649			16321277				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDPinfo	4547	Hs.195799			Zhonghua yi xue za zhi. 2005 Sep;85(35):2492-6	[Relationship between the polymorphism of microsomal triglyceride transfer protein gene and the level of serum lipids in Guangxi Heiyi Zhuang population.]		157147	12613	2	2005	 The frequencies of allele and genotype of MTP-493G/T are not significantly different between the Heiyi Zhuang and Han populations. But the levels of total cholesterol, triglyceride, low-density lipoprotein cholesterol, and apolipoprotein B in the TT genotype are significantly higher than those in the GT or GG genotype in both nationalities.											
138460		triglycerides; atherosclerosis, coronary; hypertriglyceridemia	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997			16321685				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	French		CDC GDPinfo	345	Hs.73849			International journal of cardiology. 2006 Jan;106(2):152-6	Impact of APOA5/A4/C3 genetic polymorphisms on lipid variables and cardiovascular disease risk in French men		107720	24059	2	2006	 The APOA5 19W variant is associated with increased plasma triglycerides. However, there is no evidence that APOA5 S19W, -12,238T > C, APOA4 T347S and APCC3 -482C > T SNPs are major risk factors of CHD in French men.											
130742		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Restenosis	11	11q22.3	MMP3	102211737	102219552			16323393	5A6A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDPinfo	4314	Hs.375129			Journal of the Chinese Medical Association. 2005 Nov;68(11):506-12	5A/6A polymorphism of the stromelysin-1 gene and angiographic restenosis after coronary artery stenting		185250	12466	2	2005	 There is a low frequency of the stromelysin-1 promoter 5A allele in the Chinese population in Taiwan. How stromelysin-1 5A/6A polymorphism affects ISR appears to be linked to angina status. These results merit further study to identify patients carrying genotypes which put them at increased risk of ISR, and which matrix metalloproteinase inhibitors or drug-eluting stents are more effective for those at risk.											
117908		breast cancer	CANCER	CAN		17	17q21	BRCA1	38449839	38530994			16324400				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDPinfo	672	Hs.194143			Zhonghua yi xue za zhi. 2005 Nov;85(43):3030-4	[Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai.]		113705	15504	2	2005	 Four novel mutations in BRCA1 and one novel mutation in BRCA2 may be mutations characterized of early-onset breast cancer in Chinese population. Germline mutations in BRCA2 may contribute less than mutations in BRCA1 to early-onset breast cancer in Shanghai. These data contribute to information on spectrum of BRCA gene in Chinese population and also offer a recommended screening mode for clinical genetic testing programme in China.											
141003		colorectal cancer	CANCER	CAN		1	1p36.3	MTHFR	11768373	11788702		Miao, X. P.  et al. 2005	16329804				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2005 Nov;39(6):409-11	[Association between genetic variations in methylenetetrahydrofolate reductase and risk of colorectal cancer in a Chinese population.]		607093	18388	2	2005	 These findings demonstrated that the genetic variation of MTHFR C677T should be a genetic susceptibility factor for colorectal cancer in a Chinese population.											
139637		leukemia; colorectal cancer	CANCER	CAN		6	6p21.3	HLA-C	31344507	31432914		Han, S.  et al. 2005	16331567				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):665-7	[High resolution DNA typing for HLA-A, B, Cw genes by polymerase chain reaction-sequence specific oligonucleotide probes method in the Shenyang Han population.]		142840	24589	2	2005	 Using molecular method, the present authors have analyzed the characteristic of HLA I distribution in a group of indigenous Hans in Shenyang and thus have provided more accurate gene data for use in related researches.											
127427		atherosclerosis, coronary	CARDIOVASCULAR	CARD		1	1q31-q32	IL10	205007570	205012462		Wang, Y.  et al. 2005	16331571	(-627)			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Chinese		CDC GDPinfo	3586	Hs.193717			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):679-81	[Interleukin 10 gene -627 polymorphisms in Chinese patients with early-onset coronary heart disease.]		124092	11655	2	2005	 These results suggest that IL10 gene -627 polymorphisms are not associated with an increased risk of CHD, but it might assume a role in IL10 gene expression.											
122575		cardiovascular disease risk	CARDIOVASCULAR	CARD	Cardiovascular Diseases	14	14q	ESR2	63763503	63875021		Hall, W. L.  et al. 2005	16332659				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			The American journal of clinical nutrition. 2005 Dec;82(6):1260-8; quiz 1365-6	Soy-isoflavone-enriched foods and inflammatory biomarkers of cardiovascular disease risk in postmenopausal women: interactions with genotypeand equol production	4986938	601663	25982	2	2005	 Isoflavones have beneficial effects on CRP concentrations, but not on other inflammatory biomarkers of cardiovascular disease risk in postmenopausal women, and may improve VCAM-1 in an ERbeta gene polymorphic subgroup.		diet									
136428		Crohn's disease; ulcerative colitis; pancolitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555			16374251				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDPinfo	10333	Hs.366986			Inflammatory bowel diseases. 2006 Jan;12(1):8-Jan	Toll-Like Receptor-1, -2, and -6 Polymorphisms Influence Disease Extension in Inflammatory Bowel Diseases		605403	25663	2	2006	 TLR2 and its cofactors TLR1 and TLR6 are involved in the initial immune response to bacteria by recognizing peptidoglycan. An association between nonsynonymous variants in the TLR1, -2, and -6 genes and extensive colonic disease in UC and CD was found. Our findings further highlight the role of an abnormal innate immune response in the pathogenesis of IBD.											
136287		Crohn's disease; ulcerative colitis; pancolitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807			16374251				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3			CDC GDPinfo	7096	Hs.575090			Inflammatory bowel diseases. 2006 Jan;12(1):8-Jan	Toll-Like Receptor-1, -2, and -6 Polymorphisms Influence Disease Extension in Inflammatory Bowel Diseases		601194	14324	2	2006	 TLR2 and its cofactors TLR1 and TLR6 are involved in the initial immune response to bacteria by recognizing peptidoglycan. An association between nonsynonymous variants in the TLR1, -2, and -6 genes and extensive colonic disease in UC and CD was found. Our findings further highlight the role of an abnormal innate immune response in the pathogenesis of IBD.											
131852	N	schizophrenia; panic disorder; unipolar disorder	PSYCH	PSY	Panic Disorder|Depressive Disorder|Schizophrenia	7	7p15.1	NPY	24290333	24298002			16390370	( -399 C>T )			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Danish		CDC GDPinfo	4852	Hs.1832			Acta psychiatrica Scandinavica. 2006 Jan;113(1):54-8	No association between the -399 C>T polymorphism of the neuropeptide Y gene and schizophrenia, unipolar depression or panic disorder in a Danish population		162640	12941	2	2006	 The lack of association between the -399 C > T polymorphism and schizophrenia, unipolar depression or panic disorder, respectively, suggests that the polymorphism is not involved in the etiology of these disorders in the Danish population.											
136647	Y	periodontitis	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091			16400484	TNFalpha-308 A/G			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		CDC GDPinfo	7124	Hs.241570			Shanghai kou qiang yi xue. 2005 Dec;14(6):586-9	[Association of TNFA-308 gene polymorphisms with susceptibility to chronic periodontitis in Chinese patients.]		191160	14373	2	2005	 Further study was needed since we did not find the relationship between TNFA-308 gene polymorphism and periodontitis in this present study.											
142783	Y	familial diabetes insipidus	METABOLIC	MET		20	20p13	AVP	3011201	3013370		Grant FD et al. 1998	9814475				arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000490.3			KGB	551	Hs.89648			The Journal of clinical endocrinology and metabolism. 1998 Nov;83(11):3958-64	Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant.		192340	8180	1	1998	 Therefore, two novel heterozygous mutations of the vasopressin gene have been identified in FDI kindreds. In one kindred, an asymptomatic carrier infant was identified and will require continued observation to determine whether she will develop clinical diabetes insipidus. The presence of these two novel mutations in a region of the vasopressin gene where other FDI mutations have been reported suggests that the part of the neurophysin peptide encoded by these sequences may be critically important in the appropriate expression of vasopressin.											
137506	N	Graves` Disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399	n	Allahabadia A 1998	9777748	C253 to A253			thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	UK Caucasians and Hong Kong Chinese	Hong Kong|Great Britain	KGB	7253	Hs.160411			Thyroid. 1998 Sep;8(9):777-80			603372	6292	1	1998	Results from the 89 UK families showed no deviation from the expected transmission frequency of 0.5, from parents heterozygous for the A253 allele to either Graves' or unaffected offspring (Fisher's exact test p = 0.22) and, therefore, confirmed a lack of evidence of linkage disequilibrium between the A253 allele and GD.											
142765	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.2	TGFB1	46528490	46551656	n	McDonnell GV et al. 1999	10335519				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Northern Ireland	KGB	7040	Hs.155218			Multiple sclerosis (Houndmills, Basingstoke, England). 1999 Apr;5(2):105-9	Lack of association of transforming growth factor (TGF)-beta 1 and beta 2 gene polymorphisms with multiple sclerosis (MS) in Northern Ireland.		190180	8154	1	1999	 These data indicate that TGF-beta 1 and beta 2 genes are not loci influencing MS susceptibility, either RR/SPMS or PPMS, in this population.											
142762	Y	Reiter's syndrome	IMMUNE	IMM	Arthritis, Reactive|Disease Susceptibility	6	6p21.3	TAP1	32920963	32929726		Barron KS et al. 1995	7748224				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			KGB	6890	Hs.352018			Arthritis and rheumatism. 1995 May;38(5):684-9	Susceptibility to Reiter's syndrome is associated with alleles of TAP genes.		170260	8151	1	1995	The association observed between TAP alleles and RS is independent of the presence of HLA-B27, and despite the physical proximity of TAP and HLA class II genes, linkage disequilibrium does not account for the observed associations between TAP and RS. Thus, TAP genes are genetically separated but functionally linked to class I genes, and both contribute to susceptibility to RS.											
142760	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Kawaguchi Y et al. 1994	7911550				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			KGB	6891	Hs.502			Life sciences. 1994 ;54(26):2049-53	Absence of association of TAP and LMP genes with type 1 (insulin-dependent) diabetes mellitus.		170261	8149	1	1994	These data suggest that the diabetogenic gene in the class II HLA region may be located near the DQA1 and DQB1 loci, rather than the TAP and LMP loci.											
141831		lung cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urologic Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Tsukino, H.  et al. 2003	14648207				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		Japan	CDC GDPinfo	6817	Hs.567342			Journal of cancer research and clinical oncology. 2004 Feb;130(2):99-106	Cytochrome P450 (CYP) 1A2, sulfotransferase (SULT) 1A1, and N-acetyltransferase (NAT) 2 polymorphisms and susceptibility to urothelial cancer.		171150	25605	2	2003	 Our results suggest that SULT1A1 *1/*1 and NAT2 slow acetylator genotypes might modulate the effect of carcinogenic arylamines contained in tobacco smoke, and that the modulation of NAT2 intermediate and slow acetylator genotype has a tendency to present a higher risk for highly differentiated tumors among heavy-smokers.	Case:306 Japanese patients with urothelial transitional cell:carcinoma;Control:306 healthy controls	smoking (tobacco)									
143301	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	8	8p21-p12	EPHX2	27404561	27458403		Lee et al. Hum Mol Genet. 2006;15(10):1640-9	16595607				Epoxide hydrolase 2, cytoplasm	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			Craig R. Lee	2053	Hs.212088			Hum Mol Genet. 2006 May 15;15(10):1640-9.	Genetic variation in soluble epoxide hydrolase (EPHX2) and risk of coronary heart disease: The Atherosclerosis Risk in Communities (ARIC) study.		132811															
114557	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9q31.1	ABCA1	106583104	106730257		Li, Y.  et al. 2004	15288432				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Neuroscience letters. 2004 Aug;366(3):268-71	Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control study.		600046	14865	2	2004	While our sample series is larger and thus presumably has greater power than any of the series used to implicate ABCA1, we were unable to replicate the published association, using either single markers or multiple marker haplotypes. Further, we did not observe significant and replicated association of other ABCA1 SNPs we examined with the disease, thus these ABCA1 variants do not appear to influence the risk of LOAD in this study.	Control:377:controls;Case:419 Alzheimer's disease cases:US										
114554	Y	hypercholesterolemia	METABOLIC	MET	Coronary Disease|Hyperlipoproteinemia Type II	9	9q31.1	ABCA1	106583104	106730257		Cenarro, A.  et al. 2003	12624133				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Journal of medical genetics. 2003 Mar;40(3):163-8	A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.		600046	14862	2	2003	The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects. Moreover, the K allele of the R219K polymorphism seems to modify CHD risk without important modification of plasma HDL-C levels, and it appears to be more protective for smokers than non-smokers.	Cohort 374 familial hypercholesterolemia subjects, with and without premature coronary heart disease 										
138480		pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum	16	16p13.1	ABCC6	16150922	16224838		Gotting, C.  et al. 2003	14631379				ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2			CDC GDPinfo	368	Hs.442182			Laboratory investigation; a journal of technical methods and pathology. 2004 Jan;84(1):122-30	Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients		603234	14924	2	2003	Our new c.3421C>T genotyping assays can be used for the rapid identification of this frequent mutation in PXE patients and of the recently newly proposed cardiac risk factor in young patients with myocardial infarcts of unknown origin.	Cohort 64 pseudoxanthoma elasticum patients 										
115417	Y	cholesterol; triglycerides; obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	2	2p25	ACP1	254871	268282		Bottini, N.  et al. 2002	12409270				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDPinfo	52	Hs.558296			Molecular genetics and metabolism. 2002 Nov;77(3):226-9	Association of the acid phosphatase (ACP1) gene with triglyceride levels in obese women.		171500	15002	2	2002	The present study suggests that those who gain weight and carry the ACP1 *A allele may be partially protected against developing the metabolic syndrome. The confirmation of ACP1 as a modifier gene of the metabolic complications could open the door to the prevention of the lethal complications of obesity.	Case:135/60 very obese (n=135) and moderately obese (n=60):women;Control:82 non-obese women										
115640		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	11	11p15.4	ADM	10283206	10285499		Ishimitsu, T.  et al. 2001	11463752				Adrenomedullin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001124.1			CDC GDPinfo	133	Hs.441047			Hypertension. 2001 Jul;38(1):12-Sep	Microsatellite dna polymorphism of human adrenomedullin gene in normotensive subjects and patients with essential hypertension		103275	8478	2	2001	In conclusion, microsatellite DNA polymorphism of AM gene may be associated with the genetic predisposition to EH, although the gene expression is not likely to be affected by the genotypes.	Case:266 patients with essential hypertension;Control:272 healthy normotensive subjects										
115729		blood pressure, arterial	CARDIOVASCULAR	CARD		4	4p16	ADRA2C	3738093	3740051		Belfer, I.  et al. 2004	15592690				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDPinfo	152	Hs.123022			Journal of human genetics. 2005 ;50(1):20-Dec	Haplotype-based analysis of alpha 2A, 2B, and 2C adrenergic receptor genes captures information on common functional loci at each gene.		104250	23961	2	2004	The alpha(2)-AR haplotype maps and marker panels are useful tools for genetic linkage studies to detect effects of known and unknown alpha(2)-AR functional loci.	Cohort 96/96 Caucasians (n=96) and African Americans (n=96) 										
116403	Y	bone density	METABOLIC	MET	Osteoporosis|Body Weight	3	3q27	AHSG	187813580	187821799		Lei, S. F.  et al. 2005	15917161				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese		CDC GDPinfo	197	Hs.324746			Maturitas. 2005 Jun;51(2):199-206	Bone mineral density and five prominent candidate genes in Chinese men: associations, interactioneffects and their implications.		138680	19157	2	2005	The results suggest that the AHSG gene is associated with the spine BMD in Chinese men. The present study represents the first effort to simultaneously investigate the effects of single gene locus as well as gene-by-gene interactions of multiple genes on BMD variation in Chinese men.	Cohort 258 unrelated healthy Chinese men aged 50-80 years 										
116399	Y	obesity	METABOLIC	MET	Obesity	3	3q27	AHSG	187813580	187821799		Lavebratt, C.  et al. 2005	15806395				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Swedish	Sweden	CDC GDPinfo	197	Hs.324746			Human genetics. 2005 Jun;117(1):54-60	AHSG gene variant is associated with leanness among Swedish men.		138680	15143	2	2005	A common variant of AHSG, previously associated with a lower AHSG protein level, is thus more common among lean than obese and overweight men, supporting the results from Ahsg knock-out mice, namely, that AHSG modulates body mass.	Control:148 lean otherwise healthy Swedish men;Case:356 overweight or obese otherwise healthy Swedish men										
116394	Y	phosphate serum levels	OTHER	OTH		3	3q27	AHSG	187813580	187821799		Osawa, M.  et al. 2004	15592877				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1			CDC GDPinfo	197	Hs.324746			Human genetics. 2005 Feb;116(3):146-51	Association of alpha2-HS glycoprotein (AHSG, fetuin-A) polymorphism with AHSG and phosphate serum levels.		138680	8576	2	2004	The AHSG polymorphism is attributable to the hereditary variation of AHSG and phosphate serum levels, which may affect skeletal development and chronic disorders such as vascular calcification.	Cohort 99/55/22 subjects; AHSG1 homozygotes (n=99), heterozygotes (n=55), and AHSG2 homozygotes (n=22) 										
116578		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1p36.1-p34	ALPL	21708444	21777492			15230135				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2			CDC GDPinfo	249	Hs.75431			Ter Arkh. 2004 ;76(5):61-5	[Allele polymorphism of alkaline phosphatase, acid soluble phosphatase, and vitamin D-binding protein genes in postmenopausal osteoporosis]		171760	20431	2	2004	 It is suggested that genotypes SS, 2F and FS have marked functional differences in fixation and transport of vitamin D active metabolites involved in metabolism of bone tissue in OP.	Control:51 osteoporosis free femas in the same age interval (mean age 69.0 +/- 5.6 years);Case:70 females with osteoporosis aged 60-79 years (mean age 71.0 +/- 6.2 years)										
117017		lipids	METABOLIC	MET	Cardiovascular Diseases	3	3q26.2-qter	APOD	196776864	196792278		Desai, P. P.  et al. 2002	12052480				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2		Nigeria	CDC GDPinfo	347	Hs.522555			Atherosclerosis. 2002 Aug;163(2):329-38	Genetic variation in the apolipoprotein D gene among African blacks and its significance in lipid metabolism.		107740	15274	2	2002	The results of our study show that the APOD gene harbors several polymorphisms, which are unique to African populations. Further study of these polymorphisms may help to characterize the role of apoD in lipid metabolism, and in cardiovascular disease among African populations.	Cohort 454 Caucasians Cohort 722 African blacks Nigeria 										
117567	Y	micropenis	OTHER	OTH		1	1q21	ARNT	149048809	149115810		Fujita, H.  et al. 2002	11835227				Aryl hydrocarbon receptor nuclear translocator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001668.2			CDC GDPinfo	405	Hs.632446			Teratology. 2002 Jan;65(1):8-Oct	Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.		126110	8835	2	2002	 Homozygosity for the 185Pro allele of AHRR may increase the susceptibility of a fetus to the undermasculinizing effects of dioxin exposure in utero, presumably through the diminished inhibition of AHR-mediated signaling.	Case patients with micropenis;Control controls not specified in abstract										
117690	Y	asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	6	6p21.3	BAT1	31605974	31622606		Migita, O.  et al. 2005	15969671			promoter	HLA-B associated transcript 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130463.2	Japanese		CDC GDPinfo	7919	Hs.254042			Clinical and experimental allergy. 2005 Jun;35(6):790-6	Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.		142560	12249	2	2005	 Our results suggest that LTA is one of the genes that contributes to susceptibility to atopic asthma, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population.											
117851		sepsis	INFECTION	INF	Gram-Negative Bacterial Infections|Sepsis|Genetic Predisposition to Disease	20	20q11.23-q12	BPI	36365998	36399319		Hubacek, J. A.  et al. 2001	11373419				Bactericidal/permeability-increasing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001725.1			CDC GDPinfo	671	Hs.529019			Critical care medicine. 2001 Mar;29(3):557-61	Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific geneticpredisposition to sepsis.		109195	15459	2	2001	 Our findings suggest that common polymorphisms in the gene for LBP in combination with male gender are associated with an increased risk for the development of sepsis and, furthermore, may be linked to an unfavorable outcome. These data support the important immunomodulatory role of LBP in Gram-negative sepsis and suggest that genetic testing may be helpful for the identification of patients with an unfavorable response to Gram-negative infection.	Case:204 patients diagnosed with sepsis;Control:250 healthy blood donors										
138636	Y	purpura, allergic	IMMUNE	IMM	Purpura, Schoenlein-henoch	6	6p21.3	C4A	32057812	32078435		Stefansson Thors, V.  et al. 2005	15787745				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			CDC GDPinfo	720	Hs.534847			Scandinavian journal of immunology. 2005 Mar;61(3):274-8	Increased frequency of C4B*Q0 alleles in patients with Henoch-Sch????nlein purpura.		120810	8956	2	2005	The fact that the majority of our patients carried a C4 null allele indicates that children with C4 deficiencies may have an increased risk of developing HSP. This may reflect inadequate complement activity and possibly present an opportunity to identify patients at risk of developing serious morbidity associated with HSP.	Case:56 patients diagnosed with Henoch-Schonlein purpura:Iceland:1984 - 2000;Control:98 blood donor controls										
118125		insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	2	2q37.3	CAPN10	241174817	241205795		Haap, M.  et al. 2005	15926113				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		605286	20637	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
118120		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Leipold, H.  et al. 2004	15172858				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Obstetrics and gynecology. 2004 Jun;103(6):1235-40	Calpain-10 haplotype combination and association with gestational diabetes mellitus.		605286	15556	2	2004	 Our results indicate that the haplotype 121/221 of the calpain-10 gene may be associated with disturbances of glucose metabolism during pregnancy. LEVEL OF EVIDENCE: II-1	Control:40 women with an normal oral glucose tolerance test from a total of 875 selected women;Case:40 women with an abnormal oral glucose tolerance test from a total of 875 selected women										
118102	Y	insulin; glucose	METABOLIC	MET		2	2q37.3	CAPN10	241174817	241205795		Lynn, S.  et al. 2002	11756349				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Diabetes. 2002 Jan;51(1):247-50	Variation in the calpain-10 gene affects blood glucose levels in the British population.		605286	15538	2	2002	We conclude that  genetic variation in the CAPN10 gene influences blood glucose levels in nondiabetic British subjects and that this is due, at least in part, to the effects of calpain-10 on the early insulin secretory response.	Cohort 285 nondiabetic British subjects 										
118098	N	insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Zheng, J.  et al. 2004	15641690				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Chinese		CDC GDPinfo	11132	Hs.112218			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(5):452-5	Relationship between calpain-10 gene polymorphism and insulin resistance phenotypes in Chinese.		605286	8986	2	2004	It was demonstrated that the Calpain-10 gene polymorphism UCSNP-44 was associated with insulin sensitivity and Fins and P2hIns in newly diagnosed T2DM, although Calpain-10 doesn't appear as a major diabetes susceptible gene in this population.	Control:153 non-diabetic controls;Case:268 adults newly diagnosed with type 2 diabetes										
118093	Y	obesity	OTHER	OTH	Obesity	2	2q37.3	CAPN10	241174817	241205795		Hoffstedt, J.  et al. 2002	12107250				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			The Journal of clinical endocrinology and metabolism. 2002 Jul;87(7):3362-7	Calpain-10 gene polymorphism is associated with reduced beta(3)-adrenoceptor function in human fat cells.		605286	8981	2	2002	In conclusion, a deletion/insertion polymorphism in the calpain-10 gene (SNP-19) is associated with reduced beta(3)-adrenoceptor function in obesity. This could be of importance for regulating thermogenesis in overweight subjects.	Cohort 240 healthy subjects 										
118088	Y	hirsutism	OTHER	OTH	Hirsutism	2	2q37.3	CAPN10	241174817	241205795		Escobar-Morreale, H. F.  et al. 2002	11872216			intron	Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDPinfo	11132	Hs.112218			Fertility and sterility. 2002 Mar;77(3):581-7	Common single nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism.		605286	8976	2	2002	The C allele at the UCSNP45 locus in CAPN10 is associated with idiopathic hirsutism, and UCSNP43 influences the hirsutism score.	Control:37 healthy controls;Case:97 hyperandrogenic patients										
118080		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Horikawa Y 2002	12238088				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			Y Wang	11132	Hs.112218			Nippon rinsho Japanese journal of clinical medicine. 2002 Jul;60 Suppl 7:489-97	Calpain 10 as a susceptibility gene of type 2 diabetes		605286	6708	1	2002												
119060	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Martinez-Borra, J.  et al. 2005	16297191				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3	Jewish	Israel	CDC GDPinfo	1041	Hs.556031			The Journal of investigative dermatology. 2005 Nov;125(5):928-32	The Region of 150 kb Telometic to HLA-C Is Associated with Psoriasis in the Jewish Population.		602593	15735	2	2005												
119067		leukemia, myeloid	CANCER	CAN	Hematologic Neoplasms	19	19q13.1	CEBPA	38482775	38485160		Leroy, H.  et al. 2005	15674366				CCAAT/enhancer binding protein (C/EBP), alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004364			CDC GDPinfo	1050	Hs.643434			Leukemia. 2005 Mar;19(3):329-34	CEBPA point mutations in hematological malignancies.		116897	15737	2	2005	Systematic analysis of CEBPA mutations, in addition to that of alterations in master genes of hematopoiesis, may be useful to assess the prognosis of AML particularly in patients belonging to the 'intermediate' prognostic subgroup.	Cohort 1,175 patients with hematologic malignancies 										
119272	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3p26.1	CHL1	213649	426097		Sakurai K et al. 2002	11986985				cell adhesion molecule with homology to L1CAM (close homolog of L1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006614.2			KGB	10752	Hs.148909			Molecular psychiatry. 2002 ;7(4):412-5	An association between a missense polymorphism in the close homologue of L1 (CHL1 CALL) gene and schizophrenia.		607416	6675	1	2002	An association between this CHL1 gene polymorphism and schizophrenia supports the notion that cell adhesion molecules are involved in the etiology of schizophrenia.	Control:229 Japanese control subjects;Case:282 Japanese schizophrenic patients										
138848	N	parkinson	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.21-q11.23	COMT	18309308	18336530	n	Xie T 1997	9159741	valine/methionine108 polymorphism associated with polymorphic G/A1947 bases. in exon 4 of the COMT gene	enzyme levels	coding sequence	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Movement disorders. 1997 May;12(3):426-7			116790	6929	1	1997												
138885	N	BP-Major Depressive	PSYCH	PSY	Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530	n	Serretti A et al. 2002	11992559			coding sequence	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Italian (Caucasian)		Serretti	1312	Hs.370408			American journal of medical genetics. 2002 May;114(4):370-9	Pharmacogenetics of lithium prophylaxis in mood disorders: Analysis of COMT, MAO-A, and Gbeta3 variants		116790	6966	1	2002	COMT, MAO-A, and Gbeta3 variants were not associated with lithium outcome, even when possible stratification effects such as sex, polarity, age at onset, duration of lithium treatment, and previous episodes were included in the model. The pathways influenced by those variants are not therefore involved with long-term lithium outcome in our sample.	Cohort 160/41 bipolar (n = 160) and major depressive (n = 41) disorder were followed prospectively for an average of 59.8 months	lithium									
138889	Y	prostate carcinoma	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Suzuki K 2003	14508827				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese	Japan	KGB	1312	Hs.370408			Cancer. 2003 Oct;98(7):1411-6	Genetic polymorphisms of estrogen receptor alpha, CYP19~~~ catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population.		116790	6970	1	2003	 Genetic polymorphisms of genes in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.											
138892	Y	aggressive personality traits	PSYCH	PSY	Personality Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Rujescu D 2003	12842306	V158M		coding sequence	Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			Biological psychiatry. 2003 Jul;54(1):34-9	A functional single nucleotide polymorphism (V158M) in the COMT gene is associated with aggressive personality traits.		116790	6973	1	2003	 These findings support the hypothesis that the functional polymorphism in the COMT gene may modify the phenotype of suicide attempts and anger-related traits. This, however, being a novel finding, should warrant further investigation.	Case:149 German suicide attempters;Control:328 German control subjects										
138899		cognition, prefrontal	NORMALVARIATION	NV		22	22q11.21-q11.23	COMT	18309308	18336530		Malhotra, A. K.  et al. 2002	11925305				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			The American journal of psychiatry. 2002 Apr;159(4):652-4	A functional polymorphism in the COMT gene and performance on a test of prefrontal cognition.		116790	9473	2	2002	 These data are consistent with those of previous studies, suggesting that a functional genetic polymorphism may influence prefrontal cognition.	Cohort 73 healthy volunteers 										
138903	N	attention deficit hyperactivity disorder	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Zhang, X.  et al. 2003	12903043	Val158Met			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Chinese		CDC GDPinfo	1312	Hs.370408			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):322-4	[Association analysis between attention-deficit hyperactivity disorder and Val158Met polymorphism of catechol-O-methyltransferase gene]		116790	9477	2	2003	 It was suggested that for the Han Chinese children with ADHD in this study, there was no association between ADHD and Val158Met polymorphism of COMT gene.	Control:105 healthy controls;Case:117 children with the diagnosis of ADHD as defined by:DSM-IV:Shanghai, China										
138906		depression	PSYCH	PSY	Depressive Disorder, Major	22	22q11.21-q11.23	COMT	18309308	18336530			16356553	Val158Met			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	European		CDC GDPinfo	1312	Hs.370408			Journal of affective disorders. 2006 Feb;90(3-Feb):251-6	Analysis of COMT gene (Val 158 Met polymorphism) in the clinical response to SSRIs in depressive patients of European origin		116790	9480	2	2005	 COMT gene could have a small and indirect effect of clinical response to SSRIs by slowing-down the antidepressant action along the follow-up, basically in citalopram treatment.											
138947		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Cocarcinogenesis	22	22q11.21-q11.23	COMT	18309308	18336530		Hung, R. J.  et al. 2004	14729580				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Carcinogenesis. 2004 Jun;25(6):973-8	Genetic polymorphisms of MPO, COMT, MnSOD, NQO1, interactions with environmental exposures and bladder cancer risk		116790	14020	2	2004	These findings suggest that individual susceptibility of bladder cancer may be modulated by MPO and MnSOD polymorphisms, and that the combination of genetic factors involved in oxidative stress response with environmental carcinogens may play an important role in bladder carcinogenesis.	Case:201 incident bladder cancer cases Brescia, Northern Italy:1997-2000;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons									
138954	Y	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Jones, G.  et al. 2001	11581117				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			The British journal of psychiatry. 2001 Oct;179:351-5	Aggressive behaviour in patients with schizophrenia is associated with catechol-O-methyltransferase genotype.		116790	15877	2	2001	The high-activity COMT homozygote confers a higher risk of recorded aggression in schizophrenia. Heterozygotes had a significantly lower risk, which may represent an example of heterosis/heterozygote advantage.	Cohort 180 people with DSM-IV schizophrenia 										
138972		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Batra, V.  et al. 2003	12740294				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		116790	19523	2	2003	Review article											
138976		mamographic density	OTHER	OTH	Breast Neoplasms|Atherosclerosis	22	22q11.21-q11.23	COMT	18309308	18336530		Lord, S. J.  et al. 2005	15987428				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Breast cancer research. 2005 ;7(3):R336-44	Polymorphisms in genes involved in estrogen and progesterone metabolism and mammographic density changes in women randomized to postmenopausal hormone therapy: results from a pilot study.		116790	20824	2	2005	 Although based on small numbers, these findings suggest that the magnitude of the increase in mammographic density in women using combined estrogen and progestin therapy may be greater in those with genetically determined lower activity of enzymes that metabolize estrogen and progesterone.											
138982		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Borroni, B.  et al. 2005	16257094				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Neurobiology of aging. 2005	Genetic correlates of behavioral endophenotypes in Alzheimer disease: Role of COMT, 5-HTTLPR and APOEpolymorphisms.		116790	20831	2	2005												
138986	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Galderisi, S.  et al. 2005	15567073				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Schizophrenia research. 2005 Feb;73(1):27-30	COMT Val(158)Met and BDNF C(270)T polymorphisms in schizophrenia: a case-control study.		116790	20835	2	2005	These results do not support the hypothesis that the COMT Val(158)Met or BDNF C(270)T gene polymorphisms are associated with liability to schizophrenia.	Case:106 patients with schizophrenia;Control:111 healthy subjects										
120684	Y	congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Dolzan V 2003	12887291	Ala15Thr mutation and Pro30Leu			Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		Slovenia	KGB	1589	Hs.278430			European journal of endocrinology. 2003 Aug;149(2):137-44	Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.		201910	1707	1	2003	 Our genotyping approach allowed reliable diagnosis of CAH in the Slovenian population. The high frequency of CYP21 gene aberrations on Pro30Leu positive alleles justified systematic searching for a gene conversion in the promoter region using the PCR-SSP reaction.											
121145		cholesterol, HDL; diabetes, type 2; blood pressure, arterial; liver disease; periodontitis; acenocoumarol response; acetaldehyde;	METABOLIC	MET		10	10q24.3-qter	CYP2E1	135190856	135224714		Hamdy, S. I.  et al. 2002	12047484				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	African American		CDC GDPinfo	1571	Hs.12907			British journal of clinical pharmacology. 2002 Jun;53(6):596-603	Allele and genotype frequencies of polymorphic cytochromes P450 (CYP2C9, CYP2C19, CYP2E1) and dihydropyrimidine dehydrogenase (DPYD) in the Egyptian population.		124040	24267	2	2002	 Comparing our data with that obtained in several Caucasian, African-American and Asian populations, we found that Egyptians resemble Caucasians with regard to allelic frequencies of the tested variants of CYP2C9, CYP2C19, CYP2E1 and DPYD. Our results may help in better understanding the molecular basis underlying ethnic differences in drug response, and contribute to improved individualization of drug therapy in the Egyptian population.	Cohort 247 unrelated Egyptian subjects 										
121286		chronic obstructive pulmonary disease	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939		Matsushita, I.  et al. 2002	11829455				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3		Japan	CDC GDPinfo	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	16316	2	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121279	N	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	n	Matsushita I 2002	11829455	G-20A			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Japanese	Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2055	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
121276	N	COPD	OTHER	OTH	Bronchitis, Chronic|Pulmonary Disease, Chronic Obstructive	8	8p23.2-p23.1	DEFB1	6715508	6722939	n	Matsushita I 2002	11829455	G-52A			defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Japanese	Japan	KGB	1672	Hs.32949			Biochemical and biophysical research communications. 2002 Feb;291(1):17-22	Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease.		602056	2052	1	2002	Genetic variations in hBD-1 may define a high-risk subgroup of COPD where the component of chronic bronchitis is predominant.	Control:213 healthy volunteers;Case:60 patients with chronic obstructive pulmonary disease										
142203		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	8	8p23	DEFB104A	7315239	7320014		Vankeerberghen, A.  et al. 2005	15820309				defensin, beta 104A			Europe	CDC GDPinfo	140596	Hs.559507			Genomics. 2005 May;85(5):574-81	Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.			24300	2	2005	Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found.	Case cystic fibrosis patients:Europe;Control healthy individuals										
121312	Y	schizophrenia	PSYCH	PSY	Memory Disorders|Atrophy|Genetic Predisposition to Disease|Diseases in Twins|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Cannon, T. D.  et al. 2005	16275808				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959		Finland	CDC GDPinfo	27185	Hs.13318			Archives of general psychiatry. 2005 Nov;62(11):1205-13	Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory.		605210	20039	2	2005	 Specific alleles of the DISC1 and TRAX genes on 1q42 appear to contribute to genetic risk for schizophrenia through disruptive effects on the structure and function of the prefrontal cortex, medial temporal lobe, and other brain regions. These effects are consistent with their production of proteins that play roles in neuritic outgrowth, neuronal migration, synaptogenesis, and glutamatergic neurotransmission.											
139360		cardiomyopathy	CARDIOVASCULAR	CARD	Muscular Dystrophy, Duchenne|Cardiomyopathy, Dilated	X	Xp21.2	DMD	31047265	33267647		Jefferies, J. L.  et al. 2005	16246949				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			CDC GDPinfo	1756	Hs.495912			Circulation. 2005 Nov;112(18):2799-804	Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.		300377	16344	2	2005	 Early diagnosis and treatment of DCM may lead to ventricular remodeling in DMD/BMD patients. Specific dystrophin gene mutations appear to be predictive of cardiac involvement, while other mutations may protect against or inhibit development of DCM. Further studies evaluating the impact of early intervention strategies on left ventricular geometry and function in muscular dystrophy patients seem warranted.											
121360		asthma	IMMUNE	IMM	Asthma	2	2q14.1	DPP10	114916368	116318406		Allen M 2003	14566338				Dipeptidylpeptidase 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020868.2			KGB	57628	Hs.591555			Nature genetics. 2003 Nov;35(3):258-63	Positional cloning of a novel gene influencing asthma from chromosome 2q14.			6793	1	2003												
121825	Y	substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	11	11p15.5	DRD4	627304	630703		Vandenbergh, D. J.  et al. 2000	11054777				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			American journal of medical genetics. 2000 Oct;96(5):678-83	Long forms of the dopamine receptor (DRD4) gene VNTR are more prevalent in substance abusers: nointeraction with functional alleles of the catechol-o-methyltransferase (COMT) gene.		126452	21184	2	2000	Long forms of the DRD4 VNTR are more frequent in substance abusers, but there is no interaction with previously published data on these individuals analyzing the COMT gene. There is no difference in DRD3 allele frequencies in these samples. 	Case individuals with high quantity/frequency of drug:use;Control:controls										
121785		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			16354504				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Twin research and human genetics. 2005 Dec;8(6):633-7	Association Between Dopamine D4 Receptor Exon III Polymorphism and Emotional Reactivity as a Temperamental Trait		126452	10219	2	2005												
121776	Y	bipolar disorder; affective psychoses	PSYCH	PSY	Mood Disorders	11	11p15.5	DRD4	627304	630703		Lopez Leon, S.  et al. 2005	15860340				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Biological psychiatry. 2005 May;57(9):999-1003	The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: a meta-analysis.		126452	10209	2	2005	 These findings suggest that the DRD4.2 allele is a risk allele for depression symptomatology. Meta-analysis may be a valuable objective tool for a quantitative summary of evidence for association studies in psychiatric genetics.	Control:1,164 controls subjects;Case:917 patients with unipolar (UP) or bipolar affective:disorder (BP)										
121749	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Strobel, A.  et al. 2002	12140774				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			Molecular psychiatry. 2002 ;7(6):537-8	No association between dopamine D4 receptor gene exon III and -521C/T polymorphism and novelty seeking.		126452	10172	2	2002	Our data do not provide evidence for associations between the two DRD4 polymorphisms and Novelty Seeking.	Cohort 276 unrelated healthy volunteers of German ethnicity (205 women and 71 men) 										
121723	N	suicide attempt	PSYCH	PSY	Adjustment Disorders|Depressive Disorder|Personality Disorders	11	11p15.5	DRD4	627304	630703	n	Persson ML et al. 1999	10412189			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Psychiatric genetics. 1999 Jun;9(2):97-100	Lack of association between suicide attempt and a polymorphism at the dopamine receptor D4 locus.		126452	2288	1	1999												
121719	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p15.5	DRD4	627304	630703	n	Nanko S et al. 1994	7726209				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1994 Dec;54(4):361-4	No allelic association between Parkinson's disease and dopamine D2 D3 and D4 receptor gene polymorphisms.		126452	2284	1	1994												
121702	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703	n	Chang FM et al. 1997	9034534				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Taiwanese	Taiwan	KGB	1815	Hs.99922			Biological psychiatry. 1997 Feb;41(4):394-405	The dopamine D4 receptor gene (DRD4) is not associated with alcoholism in three Taiwanese populations: six polymorphisms tested separately and as haplotypes.		126452	2267	1	1997	We conclude that  there is no association of the DRD4 locus with alcoholism in Taiwanese populations.											
121682	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Araga US et al. 2002	12140774				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2002 ;7(6):537-8	No association between dopamine D4 receptor gene exon III and -521C/T polymorphism and novelty seeking.		126452	2247	1	2002	Our data do not provide evidence for associations between the two DRD4 polymorphisms and Novelty Seeking.	Cohort 276 unrelated healthy volunteers of German ethnicity (205 women and 71 men)										
121674	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Paterson AD et al. 1996	9149324			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Psychiatric genetics. 1996 ;6(4):191-3	A PstI restriction fragment length polymorphism in the 5' untranslated region of DRD4 is not associated with schizophrenia.		126452	2239	1	1996												
121671	N	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Vandenbergh DJ et al. 1997	9322238				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 1997 Sep;2(5):417-9	No association between novelty seeking and dopamine D4 receptor (D4DR) exon III seven repeat alleles in Baltimore Longitudinal Study of Aging participants.		126452	2236	1	1997	Demographic factors such as the age and gender composition of the samples are important sources of variation in allelic association studies and future research must carefully address whether the D4DR genetic polymorphisms vary substantially across demographic groups.											
121857	N	nicotine dependence; smoking initiation	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	4	4p16.1	DRD5	9392700	9394731		Sullivan PF et al. 2001	11353446				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681	smoking		American journal of medical genetics. 2001 Apr;105(3):259-65	An association study of DRD5 with smoking initiation and progression to nicotine dependence.		126453	2306	1	2001	These data are not consistent with a strong etiological role for DRD5 in the etiology of these complex smoking behaviors.	Cohort 900 population-based sample	smoking (tobacco)									
139392	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Kyogoku, C.  et al. 2002	12115230				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Japanese	Japan|Netherlands	CDC GDPinfo	2213	Hs.352642			Arthritis and rheumatism. 2002 May;46(5):1242-54	Fcgamma receptor gene polymorphisms in Japanese patients with systemic lupus erythematosus:contribution of FCGR2B to genetic susceptibility.		604590	10610	2	2002	 These results demonstrate the association of a new polymorphism of FCGR2B (I232T) with susceptibility to SLE in the Japanese.	Case:193 Japanese patients with SLE;Control:303 healthy individuals										
139480		systemic lupus erythematosus	IMMUNE	IMM	Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Models, Animal	1	1q23	FCGR3A	159778174	159787005		Tsao, B. P.   2002	12126589				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Current rheumatology reports. 2002 Aug;4(4):359-67	An update on genetic studies of systemic lupus erythematosus.		146740	26000	2	2002	Review article											
139510	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Taylor, V. I.  et al. 2002	11835346				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			American journal of hematology. 2002 Feb;69(2):109-14	Patterns of low-affinity immunoglobulin receptor polymorphisms in stroke and homozygous sickle cell disease.		610665	24423	2	2002	We conclude that  polymorphisms of the low-affinity Fcgamma receptors are not associated with stroke in SS disease.	Case:51 Jamaican adult SS disease stroke cases;Control:51 SS disease-matched controls										
139524	Y	periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket|Chronic Disease|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR3B	159859676	159867525		Kobayashi, T.  et al. 2001	11699473				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	CDC GDPinfo	2215	HS.372679			Journal of periodontology. 2001 Oct;72(10):1324-31	The Fc gamma receptor genotype as a severity factor for chronic periodontitis in Japanese patients		610665	24437	2	2001	 Our results document the Fc gamma RIIIa-158V allele and possibly Fc gamma RIIIb-NA2 to be associated with severity of CP in Japanese patients.	Case:39 Japanese non-smoking patients with moderate chronic:periodontitis;Case:50 Japanese non-smoking patients with severe chronic:periodontitis;Control:64 ace-matched, non-smoking healthy controls										
139528		bone marrow transplantation	IMMUNE	IMM	Infection|Leukemia	1	1q23	FCGR3B	159859676	159867525		Rocha, V.  et al. 2002	12393699				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDPinfo	2215	HS.372679			Blood. 2002 Dec;100(12):3908-18	HOST DEFENSE AND INFLAMMATORY GENE POLYMORPHISMS ARE ASSOCIATED WITH OUTCOMES AFTER HLA-IDENTICAL SIBLING BONE MARROW TRANSPLANT		610665	24441	2	2002	In conclusion, D and R genes polymorphisms are informative genetic risk factors for selecting donor recipient pairs and could help in the understanding of mechanisms involved in host defenses of BMT recipients.	Cohort 39/68 patients with acute (n=39) or chronic leukemia (n=68) who underwent bone marrow transplant 										
123745		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q12	GABRG3	24799262	25451729		Ma, D. Q.  et al. 2005	16080114				Gamma-aminobutyric acid (GABA) A receptor, gamma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033223.1		United States	CDC GDPinfo	2567	Hs.569475			American journal of human genetics. 2005 Sep;77(3):377-88	Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.		600233	27428	2	2005	We conclude that  GABRA4 is involved in the etiology of autism and potentially increases autism risk through interaction with GABRB1. These results support the hypothesis that GABA receptor subunit genes are involved in autism, most likely via complex gene-gene interactions.											
123888	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6p24	GCNT2	10629638	10737587		Wang, L.  et al. 2005	15882971				Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145649.3	Japanese		CDC GDPinfo	2651	Hs.519884			Biochemical and biophysical research communications. 2005 Jun;331(4):958-63	An A/G polymorphism of core 2 branching enzyme gene is associated with prostate cancer.		600429	10806	2	2005	These results demonstrate that C2GnT A/G polymorphism is associated with the susceptibility to prostate cancer in a Japanese population.	Case Japanese prostate cancer cases and benign prostatic hyperplasia cases;Control:controls										
124224	Y	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	6	6q16.3-q21	GRIK2	101953674	102623474		MacDonald ME et al. 1999	10522893				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2			KGB	2898	Hs.98262			Neurology. 1999 Oct;53(6):1330-2	Evidence for the GluR6 gene associated with younger onset age of Huntington's disease.		138244	2929	1	1999												
124309		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	3	3q13.3	GSK3B	121028235	121295203			16315267				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Annals of neurology. 2005 Dec;58(6):829-39	GSK3B polymorphisms alter transcription and splicing in Parkinson's disease		605004	12312	2	2005												
124304		bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Benedetti F 2004	14729229			5' promoter	Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2	Italian		KGB	2932	Hs.445733			Neuroscience letters. 2004 Jan;355(2-Jan):37-40	A single nucleotide polymorphism in glycogen synthase kinase 3-beta promoter gene influences onset of illness in patients affected by bipolar disorder.		605004	2964	1	2004	Results warrant interest for the variants of genes pertaining to the molecular clock as possible endophenotypes of bipolar disorder, but caution ought to be taken in interpreting these preliminary results and future replication studies must be awaited.	Cohort 185 Italian patients affected by bipolar disorder										
124515		styrene toxicity	UNKNOWN	UNK		1	1p13.3	GSTM1	110031964	110037890		Teixeira, J. P.  et al. 2004	14751678				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Toxicology. 2004 Feb;195(3-Feb):231-42	Occupational exposure to styrene: modulation ofcytogenetic damage and levels of urinary metabolites of styrene by polymorphisms in genes CYP2E1, EPHX1, GSTM1, GSTT1 and GSTP1.		138350	24509	2	2004	The present data seem to suggest that apart from the methodology usually used for monitoring populations occupationally exposed to styrene (urinary metabolites and biomarkers of early biological effects) the analysis of individual genotypes associated with the metabolic fate of styrene should also be carried out in order to evaluate the individual genetic susceptibility of exposed populations.	Control:28 control subjects;Case:28 reinforced plastic workers										
124498		manganism, susceptibility to occupational chronic	OTHER	OTH	Central Nervous System Diseases|Manganese Poisoning|Occupational Diseases	1	1p13.3	GSTM1	110031964	110037890		Zheng, Y. X.  et al. 2002	12171760				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Biomarkers. 2002 Jul-Aug;7(4):337-46	Polymorphism of metabolic genes and susceptibility to occupational chronic manganism.		138350	24492	2	2002	The results suggest that CYP2D6L gene polymorphism might influence susceptibility to manganese-induced neurotoxicity. However, because of limited sample size, our results should be validated in large-scale studies.	Case:49 patients with chronic manganism;Control:50 unrelated healthy controls who were welders and ferromanganese smelters and occupationally exposed to manganese dust and fume in the same workshops from three metallurgical industries										
124450		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Cheng, T. C.  et al. 2004	15455371				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Taiwan	CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		138350	21569	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
124405	Y	tuberculosis; esophageal cancer	CANCER	CAN	Tuberculosis|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Adams, C. H.  et al. 2003	12747608				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	South African		CDC GDPinfo	2944	Hs.301961			Clinical chemistry and laboratory medicine. 2003 Apr;41(4):600-5	Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence.		138350	12651	2	2003	These variants could therefore be associated with high cancer susceptibility. In addition, the high proportion of NAT2 "fast" alleles may partially explain the high tuberculosis prevalence in South Africans, due to reduced isoniazid efficacy in the presence of rapid acetylation	Cohort African population samples 										
124384	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Chen, K.  et al. 2004	15777499				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Nov;26(11):645-8	[Associations between genetic polymorphisms of glutathione S-transferase M1 and T1, smoking and susceptibility to colorectal cancer: a case-controlstudy.]		138350	10927	2	2004	 This study suggests that certain null GSTM1 and GSTT1 genotypes may be associated with an elevated risk of colorectal cancer which may be modified by interaction of the two genetic polymorphisms and cigarette smoking.	Case:126 colorectal cancer patients;Control:343 healthy controls	smoking (tobacco)	GSTM1	null	GSTT1	null			Y	smoking (cigarettes)	colorectal cancer
124875		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Sturgis, E. M.  et al. 2002	11981277				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Current opinion in oncology. 2002 May;14(3):310-7	Genetic susceptibility--molecular epidemiology of head and neck cancer.		600436	27920	2	2002	Review article											
124859		lymphoma; Hodgkin's disease	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Sarmanova, J.  et al. 2000	11191882				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		600436	27443	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
124836		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ivashchenko, T. E.  et al. 2003	12760253				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Genetika. 2003 Apr;39(4):525-9	[Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis]		600436	26908	2	2003	It is suggested that typing of the NAT2, GSTM1, and GSTT1 genes can be useful for the assessment of the predisposition to endometriosis.	Cohort 74 patients with extragenital endometriosis 										
124775		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Moore, L. E.  et al. 2004	15219943				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Argentina	CDC GDPinfo	2952	Hs.268573			Cancer letters. 2004 Aug;211(2):199-207	Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina.		600436	24554	2	2004	The MTHFR 677 CT and TT polymorphisms appeared protective against bladder cancer.	Case:106 bladder cancer cases;Control:109:controls	smoking (tobacco)									
124770		cytogenetic studies	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Schlade-Bartusiak, K.  et al. 2004	15036125				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Mutation research. 2004 Mar;558(2-Jan):121-30	Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes.		600436	24549	2	2004	Our study shows that the combined analysis of polymorphisms in metabolizing enzymes may lead to a better understanding of their contribution to an individual's susceptibility to DEB.	Cohort 63 healthy donors 										
124763		leukemia, acute myeloid	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231			16321221				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Zhonghua yi xue za zhi. 2005 Aug;85(33):2312-6	[Relationship between GSTT1, GSTM1 and NQO1 gene polymorphism and acute myeloid leukemia and recurrent chromosome translocations]		600436	21673	2	2005	 Determination of the NQO1(C609T) genotypes may be used as a stratification marker to predict high-risk individuals for AML, especially for AML with t (8; 21) (q22; q22)/AML-ETO fusion gene and t (15; 17) (q22; q11)/PML-RARalpha fusion gene.											
124753		chronic toxic encephalopathy	NEUROLOGICAL	NEUR	Brain Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ahmadi, A.  et al. 2002	14992466				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDPinfo	2952	Hs.268573			Toxicology and industrial health. 2002 Jul;18(6):289-96	Interaction between smoking and glutathione S-transferase polymorphisms in solvent-induced chronic toxic encephalopathy.		600436	21663	2	2002	We suggest that the GSTM1 null genotype in smokers is a possible risk for solvent-induced CTE.	Control:32 non-chronic toxic encephalopathy patients;Case:56/27 chronic toxic encephalopathy (CTE, n = 56), incipient CTE (n = 27) patients	smoking (tobacco) solvents									
139605		PAH metabolites, urinary	METABOLIC	MET		4	4q28.2-q31.1	GYPA	145136706	145281294		Lee, K. H.  et al. 2002	11936216				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			CDC GDPinfo	2993	Hs.434973			Journal of toxicology and environmental health Part A. 2002 Mar;65(6-May):355-63	Influence of polymorphism of GSTM1 gene on association between glycophorin a mutant frequency and urinary PAH metabolites in incineration workers.		111300	24579	2	2002	These results suggest that the association between urinary 1-OHPG and GPA mutation might be modulated by the GSTM1 genotype.	Cohort 81 workers including 38 employees directly involved in incinerating industry wastes were recruited South Korea 										
125146	N	nut allergy	IMMUNE	IMM	Nut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Hand, S.  et al. 2004	15144462				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Clinical and experimental allergy. 2004 May;34(5):720-4	Human leucocyte antigen polymorphisms in nut-allergic patients in South Wales.		142800	11054	2	2004	 At HLA '2-digit resolution' and with undifferentiated patients with nut allergy, there are no major disturbances in the frequency of HLA-A, B, DRB1 or DQB1 types. However, the difference in frequency of HLA-DRB1(*)11 between the nut allergy patients and the atopic controls merits further investigation as this may represent an important phenotypic relationship.	Control:82/1798 atopic non-nut-allergic subjects (n=82) and random blood donors (n=1,798);Case:84 patients presenting at the allergy clinic with symptoms of nut allergy										
125143	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	HLA-A	29963507	30085130		Zhang, X. J.  et al. 2003	14527733				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Journal of dermatological science. 2003 Oct;33(1):6-Jan	Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans		142800	11050	2	2003	 This study demonstrated the positive associations of HLA class I markers with psoriasis vulgaris, of which HLA-Cw*0602 was the strongest susceptibility determinant for development of early-onset psoriasis, in the southeastern Chinese Han population.	Case:166 Chinese Han patients with psoriasis vulgaris southeastern China;Control:204 healthy unrelated Hans										
125140		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Sanchez-Velasco, P.  et al. 2003	12753657				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Spanish		CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2003 May;61(5):384-92	HLA alleles in isolated populations from North Spain: origin of the Basques and the ancientIberians.		142800	11047	2	2003	These populations have been compared with neighbouring ones and other Mediterraneans by using neighbour-joining dendrograms and plane genetic distances.	Cohort three relatively isolated populations of northern Spain from Cantabria ( Pas Valleys inhabitants or Pasiegos and Cabuernigos) and from the Basque Country (Arratia Valley inhabitants) 										
125134		lupus erythematosus	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Cao, K.  et al. 2001	11543903				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Human immunology. 2001 Sep;62(9):1009-30	Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations		142800	11038	2	2001	There was lack of correlation between the levels of heterozygosity and the number of alleles detected in each population.	Cohort 1296 unrelated subjects from five major outbred groups living in the U.S.A (African, AFAM; Caucasians, CAU; Asian, ORI; Hispanic, HIS, and North American Natives, NAI). US 										
125230		HIV	INFECTION	INF	Disease Susceptibility	6	6p21.3	HLA-A	29963507	30085130		Koning, F. A.  et al. 2004	15166527				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			AIDS (London, England). 2004 May;18(8):1117-26	Correlates of resistance to HIV-1 infection in homosexual men with high-risk sexual behaviour		142800	21701	2	2004	 Low in vitro R5 susceptibility of cells from the HRSN men was due to beta-chemokine mediated inhibition of virus replication. The presence of HIV-1 specific cytotoxic T cells in both HRSN and pre-SC participants may signify exposure to the virus rather than protection from infection. Host genetic characteristics and other factors affecting innate immunity may contribute to differential resistance to HIV-1 infection among exposed seronegative individuals.	Control:15 HIV-negative pre-seroconversion homosexual men from the same Amsterdam Cohort Study;Case:29 high-risk seronegative homosexual men from the same Amsterdam Cohort Study										
125227		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-A	29963507	30085130		Duvefelt, K.  et al. 2004	14651518				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2004 Jan;63(1):13-20	A NOTCH4 association with multiple sclerosis is secondary to HLA-DR*1501.		142800	18672	2	2004	We conclude that  alleles of the NOTCH4 and TNFalpha genes are unlikely to be of importance for the susceptibility to MS, although specific alleles of these genes are often carried on the same haplotype as DR15, DQ6.	Control:180:controls;Case:181 multiple sclerosis										
125211	N	asthma	IMMUNE	IMM	Asthma	6	6p21.3	HLA-A	29963507	30085130		Parapanissiou, E.  et al. 2005	15853903				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Greek	Greece	CDC GDPinfo	3105	Hs.181244			Tissue antigens. 2005 May;65(5):481-4	HLA antigens in Greek children with allergic bronchial asthma.		142800	17212	2	2005	The study of the HLA haplotypes failed to demonstrate any significant association between any extended or natural selection haplotype and mite allergic bronchial asthma in Greek children.	Control:125 healthy, unrelated Greek children without medical history of atopy;Case:60 Greek children with allergic bronchial asthma due to mite sensitivity:Greece										
125200		myasthenia gravis	IMMUNE	IMM	Multiple Sclerosis|Myasthenia Gravis	6	6p21.3	HLA-A	29963507	30085130		Donmez, B.  et al. 2004	15301866				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Turkish	Turkey	CDC GDPinfo	3105	Hs.181244			Human immunology. 2004 Jul;65(7):752-7	HLA genotypes in Turkish patients with myasthenia gravis: comparison with multiple sclerosis patientson the basis of clinical subtypes and demographic features.		142800	17200	2	2004	This is the first study to examine the relationship between HLA haplotypes and MG in the Turkish population and to compare MG with another autoimmune disease, MS, on the basis of the HLA haplotypes. Further investigations with a larger population are required to explain this finding.	Control:122/188 clinically definite multiple sclerosis patients (n=122) and healthy subjects (n=188);Case:66 Turkish patients with myasthenia gravis										
142576	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-A	29963507	30085130		Lahdelma L et al. 1998	9510376	A1				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			Tissue antigens. 1998 Feb;51(2):200-3	Association between HLA-A1 allele and schizophrenia gene(s) in patients refractory to conventional neuroleptics but responsive to clozapine medication.		142800	7941	1	1998												
142586	Y	age	AGING	AGE	Diabetes Mellitus	6	6p21.3	HLA-A	29963507	30085130		Poncet D et al. 1981	7297796	A2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			KGB	3105	Hs.181244			Diabetologia. 1981 Nov;21(5):460-3	HLA-A2 and type 2 (insulin independent) diabetes mellitus in Pima Indians: an association of allele frequency with age.		142800	7951	1	1981												
125267		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-B	31344507	31432914		Lopez-Vazquez, A.  et al. 2004	15089899				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Africa, Northern	CDC GDPinfo	3106	Hs.77961			The American journal of gastroenterology. 2004 Apr;99(4):662-7	MHC class I region plays a role in the development of diverse clinical forms of celiac disease in a Saharawi population.		142830	17190	2	2004	 The elevated prevalence of CD in Saharawi seems to be related to the high frequency of HLA-DQ2 in this population. However, the development of atypical or typical forms of the disease may be due to a gene or genes located in the class I side of the haplotype B8/DR3/DQ2, especially MICA. This appears not to be implicated in the susceptibility to CD but may play an important role in the development of the different forms of the disease.	Case:125 celiac disease patients Spanish Sahara;Control:98 healthy controls		HLA class I	B8/DR3/DQ2 haplotype	MICA				Y		celiac disease in a Saharawi population
142537	Y	acute anterior uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	6	6p21.3	HLA-B	31344507	31432914		Goto K et al. 1998	9744378	B27				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			American journal of ophthalmology. 1998 Sep;126(3):436-41	Association between MICA gene A4 allele and acute anterior uveitis in white patients with and without HLA-B27.		142830	7902	1	1998	 These results suggest that the MICA gene itself or other nearby gene(s) linked to the MICA A4 allele may be involved in the development of acute anterior uveitis in a white population.											
142568	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Gonzalez-Escribano MF et al. 1998	9714478	B*5101, B*5108				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Spain	KGB	3106	Hs.77961			Tissue antigens. 1998 Jul;52(1):78-80	Association of HLA-B51 subtypes and Behcet's disease in Spain.		142830	7933	1	1998												
142599	N	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914	n	Gul A 2001	11426025	HLA-B*51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			Rheumatology (Oxford, England). 2001 Jun;40(6):668-72			142830	7964	1	2001	 HLA-B*51 does not exhibit a strong association with a more severe disease course in BD. The involvement of other genetic and/or environmental factors seems to be required and to be more important than B*51 for the progression of BD.											
139620		psoriatic arthritis	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Zhang, H. B.  et al. 2004	15751651				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Fa yi xue za zhi. 2004 ;20(4):197-9	[The study on HLA-Cw polymorphism from Xi'an Han population by PCR-sequence specific oligonucleotide probe]		142840	11076	2	2004	 The distribution of genotype frequencies met the law of Hardy-Weinberg equilibrium by Hi-square test. The frequency data can be used in forensic and paternity tests, transplant matching and anthropology.	Cohort 130 randomly selected individuals from Xi'an Han population China 										
139642		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Thrombophlebitis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Kaya, T. I.  et al. 2002	12372094				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Turkish		CDC GDPinfo	3107	Hs.591791			Clinical and experimental dermatology. 2002 Sep;27(6):498-501	Association of class I HLA antigens with the clinical manifestations of Turkish patients with Bechet's disease.		142840	24594	2	2002	Statistically significant findings are as follows	Cohort 85 patients with Behcet's disease Turkey 										
139679		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Ma, H. J.  et al. 2004	15321756				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Di yi jun yi da xue xue bao. 2004 Aug;24(8):900-3	[HLA-Cw alleles polymorphism and haplotypes in Guangdong Han population]		142840	24631	2	2004	 HLA-Cw alleles have richer polymorphisms and their linkage disequilibrium with HLA-A, B, DRB1 exhibits geographic genetic characteristics.	Cohort 185 bone marrow donors 										
125662		PAH metabolites, urinary	NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Smolyanitsky, A. G.  et al. 2003	14550622				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Russian		CDC GDPinfo	3117	Hs.387679			Forensic science international. 2003 Oct;137(1):100-3	Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-J(H), D17S30, ApoB and D1S80 loci in northwestern Russians		146880	24642	2	2003	No result in abstract	Cohort 501 unrelated individuals northwestern Federal Region of Russia 										
125654		lung cancer; Lambert-Eaton myasthenic syndrome	CANCER	CAN	Carcinoma, Small Cell|Lambert-Eaton Myasthenic Syndrome|Lung Neoplasms	6	6p21.3	HLA-DQA1	32713160	32722817		Wirtz, P. W.  et al. 2005	15652424				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Great Britain|Netherlands	CDC GDPinfo	3117	Hs.387679			Journal of neuroimmunology. 2005 Feb;159(2-Jan):230-7	HLA and smoking in prediction and prognosis of small cell lung cancer in autoimmune Lambert-Eaton myasthenic syndrome		146880	21832	2	2005	We propose that two distinct immunopathogenetic routes can lead to one clinically and serologically indistinguishable autoimmune myasthenic syndrome. HLA-DR3-B8 is strongly associated with LEMS in nontumor patients only. In other LEMS patients, SCLC apparently provides a powerful autoimmunogenic stimulus that overrides HLA restrictions in breaking tolerance to calcium channels. Moreover, negativity for HLA-B8 combined with smoking behavior points more strongly to an underlying SCLC and predicts a worse prognosis in SCLC-LEMS patients.	Control:controls;Case:48/29 British (n=48) and Dutch (n=29) Caucasian Lambert-Eaton myasthenic syndrome patients	smoking (tobacco)									
125622	Y	HIV; cytomegalovirus retinitis	INFECTION	INF	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Gupta, M.  et al. 2004	15699508				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Swedish	Sweden	CDC GDPinfo	3117	Hs.387679			Annals of the New York Academy of Sciences. 2004 Dec;1037:138-44	Frequency of MICA in all babies in southeast Sweden (ABIS) positive for high-risk HLA-DQ associated with type 1 diabetes.		146880	17312	2	2004	The results from genetic typing in this study would be useful, in conjunction with results from autoantibody analysis that are prospectively being followed-up in all the babies, to develop an approach for identifying children at risk for developing T1DM. Inclusion of MICA typing in addition to HLA could be useful for screening of genetic markers associated with T1DM.	Cohort 2,821 newborns southeast Sweden 										
125598		H. pylori infection; Helicobacter pylori infection	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817			14964841				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Indian		CDC GDPinfo	3117	Hs.387679			Genetika. 2003 Dec;39(12):1710-8	[In Process Citation]		146880	17288	2	2003	Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.	Cohort 31 Aleuts of the Commanders whose ancestors inhabited the Commander Islands for many thousand years Alaska 										
125587	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Hermann, R.  et al. 2003	12666382				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Hungary	CDC GDPinfo	3117	Hs.387679			Orvosi hetilap. 2003 Feb;144(8):355-60	[Prevalence and predictive value of GAD65 autoantibodies and their correlation with HLA DR-DQ genotypes in children with type-1 diabetes]		146880	17277	2	2003	 GAD65 antibodies are specific disease markers for type 1 diabetes. The increased prevalence of GADA among first degree relatives of type 1 diabetes patients indicates an increased risk for development of diabetes in this population. GADA is associated with HLA DR3-DQ2 haplotype and female sex. Positive predictive value of GADA is considerably lower in the general population than in first degree relatives, consequently, for more accurate diabetes prediction the use of additional immune and genetic markers is necessary.	Case:122 childhood type 1 diabetes cases and their first degree relatives (n=164):Hungary;Control:2664 ethnically and geographically matched healthy:children										
125578		diabetes, type 2; diabetes, type 1	UNKNOWN	UNK		6	6p21.3	HLA-DQA1	32713160	32722817		Pushkarev, V.P.  et al. 2002	12063795				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Russian		CDC GDPinfo	3117	Hs.387679			Sudebno-meditsinskaia ekspertiza. 2002 Mar-Apr;45(2):28-32	[Population study of HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC loci in Caucasians living in the Ural region of Russia]		146880	17266	2	2002	Our population study showed that high informative value of the tested genetic markers and conformity to HWE make them a useful tool for forensic genetic studies in the Ural Caucasoid population. Preliminary assessment of the efficiency of PCR of 6 studied locuses by capillary electrophoresis is highly effective in typing of DNA samples isolated from material evidences with negligible content of biological material with presumably high degree of degradation and for evaluating the positive and negative amplification controls.	Cohort the Ural population 										
125550		graft-versus-host disease	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Lampis, R.  et al. 2000	11169241				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2000 Dec;56(6):515-21	The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations.		146880	17236	2	2000	These results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.	Cohort a large cohort of Sardinian newborns Sardinia 										
125521	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Jiang, Y. G.  et al. 2004	15231205				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua liu xing bing xue za zhi. 2004 Apr;25(4):337-40	[Study on the polymorphisme of human leucocyte antigen-DRB1, -DQA1 and -DQB1 alleles in patients with hepatitis B]		146880	11147	2	2004	 HLA-DRB1 * 0301, -DQA1 * 0501 and -DQB1 * 0301 were closely associated with the susceptibility to chronic hepatitis B, while HLA-DRB1 * 1101/1104 and -DQA1 * 0301 closely associated with the resistance to chronic hepatitis B. These findings suggested that host HLA class II gene was an important factor determining the outcome of HBV infection.	Control:106 normal control subjects;Case:52/30 patients with chronic hepatitis B (n=52) and patients with acute hepatitis B (n=30)										
125474		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Vargas-Alarcon, G.  et al. 2001	11476905				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Mexican	Mexico	CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 Aug;62(8):814-20	Class II allele and haplotype frequencies in Mexican systemic lupus erythematosus patients: therelevance of considering homologous chromosomes in determining susceptibility		146880	11094	2	2001	The results suggest that the DRB1*0301 is the principal class II allele associated with the genetic susceptibility to SLE in Mexican patients and that the presence of a specific haplotype of the homologous chromosome in patients with DRB1*0407-DQA1*03-DQB1*0302 and DRB1*1501-DQA1*0102-DQB1*0602 haplotypes could have an additive effect on the susceptibility to the disease. Finally, the low frequency of the DRB1*0301 and DRB1*1501 alleles in the control population suggests that the genetic admixture between Mexican Indians and Caucasian populations was an event that could have increased the risk of Mexicans to develop SLE.	Case:81 systemic lupus erythematosus Mexican Mestizo:patients:Mexico;Control:99 ethnically matched controls										
125470		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome	6	6p21.3	HLA-DQA1	32713160	32722817		Bertolaccini, M. L.  et al. 2001	11246532			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Thrombosis and haemostasis. 2001 Feb;85(2):198-203	Plasma tumor necrosis factor alpha levels and the -238*A promoter polymorphism in patients with antiphospholipid syndrome.		146880	11089	2	2001	 Raised plasma TNFalpha levels were found in patients with APS. As a prothrombotic and proinflammatory cytokine, TNFalpha may be involved in the development of clinical features of APS. The lack of correlation between the TNFA-238 polymorphism and plasma levels associated with disease suggests that the TNF genetic marker may only indirectly relate to protein levels by virtue of allelic association with a functional marker which may reside in the HLA class II region.	Case:83 Caucasoid patients with antiphospholipid syndrome;Control:95 ethnically matched healthy controls										
142497	N	Coeliac	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817	n	Mantovani V et al. 1991	1671007					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			KGB	3117	Hs.387679			Clinical and experimental immunology. 1991 Jan;83(1):74-8	Molecular analysis of HLA-DQ A alleles in coeliac disease lack of a unique disease-associated sequence.		146880	7862	1	1991												
126210		Carbamazepine hypersensitivity	UNKNOWN	UNK	Drug Hypersensitivity	6	6p21.3	HLA-DRA	32515624	32520802		Pirmohamed, M.  et al. 2001	11294926				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			Neurology. 2001 Apr;56(7):890-6	TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients.		142860	22048	2	2001	 The TNF2 allele was associated with severe, but not nonserious, carbamazepine hypersensitivity reactions, suggesting that hypersecretion of tumor necrosis factor alpha may be a determinant of the severity of tissue damage. However, the association of the TNF2 allele with carbamazepine hypersensitivity was not independent of HLA-DR3 and -DQ2, and therefore the possibility that it constitutes a passive component of the TNF2-DR3-DQ2 haplotype cannot be excluded.	Case:23 serious carbamazepine-hypersensitive reactive:subjects;Control:313 controls(63 patients on carbamazepine without adverse effects and 250 healthy volunteers);Case:37 nonserious carbamazepine-hypersensitive reactive:subjects	carbamazepine									
139691		Asthma. total IgE	IMMUNE	IMM	Asthma|Hypersensitivity|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Aron 1996	8842557	DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 1996 Jul;26(7):821-8			142857	3165	1	1996	 We observed that HLA-DR 4 and DR7 alleles are significantly implicated in their susceptibility to the disease and suggest that this susceptibility is more related to atopy than to specific responses to allergens. According to previous studies, we could also submit that in atopic patients with asthma, DR4 alleles at the least, could be more closely associated with atopy than with asthma per se. Conversely, we suggest that some allelic DQA1 and DQB1 sequences might confer protection against the disease.											
139700		SPT (HDM)	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Conjunctivitis|Hypersensitivity, Immediate	6	6p21.3	HLA-DRB1	32593131	32665559		Torres-Galvan MJ 1999	10071525	DRB1/D			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Spain	KGB	3123	Hs.534322			Annals of allergy, asthma & immunology. 1999 Feb;82(2):198-203			142857	7075	1	1999	 These results suggest that any particular HLA-DRB1/DQA1/DQB1 allele is responsible for the development of allergy to house dust mite in the Spanish population. Some other locus in or close to the HLA region might be involved, e.g., the tumour necrosis factor gene, a possibility that would explain the significant difference from expected values in the segregation of HLA haplotypes.											
139722	Y	gastric adenocarcinoma	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ohtani M 2003	12870731				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	KGB	3123	Hs.534322			Digestive and liver disease. 2003 Jul;35(7):468-72	Association of the HLA-DRB1 gene locus with gastric adenocarcinoma in Japan.		142857	7097	1	2003	 These findings suggest that immunogenetic factors for susceptibility to gastric adenocarcinoma are present in the host, the HLA-DRB1*04051 allele is a host genetic risk factor for gastric adenocarcinoma, and that this genetic risk is independent of H. pylori infection.											
139730		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Cowland JB 1994	7912858				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Danish		Y Wang	3123	Hs.534322			Tissue antigens. 1994 Jan;43(1):34-7	DNA polymorphism of HLA class II genes in systemic lupus erythematosus.		142857	7105	1	1994		Case:24; Control:102										
139737	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Tian W 2000	12212234				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	Y Wang	3123	Hs.534322			Hunan yi ke da xue xue bao. 2000 Feb;25(1):15-7	Correlative study on HLA-DR2 allelic polymorphism and systemic lupus erythematosus in the Han nationality in Hunan province		142857	7112	1	2000	The results were that HLA-DR2 was strongly correlated with SLE (RR = 2.71, P < 0.01); and HLA-DRB1 * 1501 was the allele correlated with disease (RR = 3.01, Pc < 0.05). In addition, PCR/SSCP showed that there was not any novel sequence variation in exon 2 of HLA-DR2 alleles in the Han nationality in Hunan province.	Case:58 systemic lupus erythematosus (SLE) patients Hunan province, China;Control:59 normal controls										
139764		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Smikle, M.  et al. 2002	12144077				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Jamaica	CDC GDPinfo	3123	Hs.534322			Southern medical journal. 2002 Jul;95(7):717-9	HLA-DRB alleles and systemic lupus erythematosus in Jamaicans.		142857	11271	2	2002	 The SLE HLA associations in Jamaicans differ from those in other black populations.	Control:100:controls;Case:70 patients with systemic lupus erythematosus		HLA	DRB3*01/03	HLA	DRB1*13/14.DRB3*01/03			Y		systemic lupus erythematosus(SLE) and oral ulcers in patients with SLE
139805		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gonzalez-Escribano, M. F.  et al. 2003	12826377				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	CDC GDPinfo	3123	Hs.534322			Human immunology. 2003 Jul;64(7):741-4	MCP-1 promoter polymorphism in Spanish patients with rheumatoid arthritis.		142857	22053	2	2003	In conclusion, MCP-1 polymorphism is slightly associated with the susceptibility to RA in patients lacking the HLA SE.	Case:141 Spanish rheumatoid arthritis patients;Control:194:controls										
139942		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	6	6p21.3	HLA-DRB1	32593131	32665559		Yoshizawa, K.  et al. 2003	12694584				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2003 Feb;61(2):159-65	Long-term follow-up of hepatitis C virus infection:HLA class II loci influences the natural history of the disease.		142857	22190	2	2003	Our findings establish that certain HLA class II alleles strongly influence disease progression following HCV infection.	Cohort 103 chronically infected Japanese HCV patients 										
139988		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Lorentzen, A. R.  et al. 2005	16005527				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Norway	CDC GDPinfo	3123	Hs.534322			Journal of neuroimmunology. 2005 Sep;166(2-Jan):197-201	Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients.		142857	24715	2	2005												
140172		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-DRB1	32593131	32665559		McKiernan, S. M.  et al. 2004	15239092				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Hepatology (Baltimore, Md). 2004 Jul;40(1):108-14	Distinct MHC class I and II alleles are associated with hepatitis C viral clearance, originating from a single source.		142857	26955	2	2004	In conclusion, certain class I alleles are associated with outcome in this homogeneous cohort. More significantly, either HLA-A*03, -DRB1*0101, or -*0401 are carried by an overwhelming majority of those subjects who successfully clear HCV.	Cohort 227 										
142391	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hajeer AH et al. 2000	10852383	DRB1*0101 ,DRB1*04			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish	Spain	KGB	3123	Hs.534322			Tissue antigens. 2000 Apr;55(4):319-25	Different gene loci within the HLA-DR and TNF regions are independently associated with susceptibility and severity in Spanish rheumatoid arthritis patients.		142857	7756	1	2000												
142413	Y	ocular cicatricial pemphigoid	VISION	VIS	Skin Diseases, Vesiculobullous|Pemphigoid, Benign Mucous Membrane	6	6p21.3	HLA-DRB1	32593131	32665559		Zaltas MM et al. 1989	2653736	DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Current eye research. 1989 Feb;8(2):189-93	Association of HLA-DR4 with ocular cicatricial pemphigoid.		142857	7778	1	1989												
142468	Y	Vogt-Koyanagi-Harada's disease	IMMUNE	IMM	Uveomeningoencephalitic Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Alaez C et al. 1999	10527396	DRB1*04,*0101			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Mexico	KGB	3123	Hs.534322			Human immunology. 1999 Sep;60(9):875-82	Strong association of HLA class II sequences in Mexicans with Vogt-Koyanagi-Harada's disease.		142857	7833	1	1999												
142557	Y	X-linked adrenoleukodystrophy	OTHER	OTH	Multiple Sclerosis|Adrenoleukodystrophy	6	6p21.3	HLA-DRB1	32593131	32665559		Berger J et al. 1995	7488132	DRB1*15, *16			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Biochemical and biophysical research communications. 1995 Nov;216(2):447-51	Association of X-linked adrenoleukodystrophy with HLA DRB1 alleles.		142857	7922	1	1995												
142603	N	Juvenile Myoclonic Epilepsy	OTHER	OTH	Epilepsies, Myoclonic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Le Hellard S 1999	9924913	HLA-DR13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	French	France	KGB	3123	Hs.534322			Epilepsia. 1999 Jan;40(1):117-9			142857	7968	1	1999	 Unlike previously reported positive association, in this population, there is no evidence that susceptibility to juvenile myoclonic epilepsy is associated with HLA-DR13.	Case:93; Control:93										
126286		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613			16362895				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDPinfo	3135	Hs.512152			The Journal of infectious diseases. 2006 Jan;193(2):298-301	Genetic Variants in Nonclassical Major Histocompatibility Complex Class I Human Leukocyte Antigen (HLA)-E and HLA-G Molecules Are Associated with Susceptibility to Heterosexual Acquisition of HIV-1		142871	22234	2	2006												
126361	N	Autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q21.3	HOXB1	43961805	43963271	n	Li J 2002	11840501				Homeo box B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002144.3			KGB	3211	Hs.99992			American journal of medical genetics. 2002 Jan;114(1):24-30			142968	3189	1	2002												
126389		restenosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Diabetes Complications	16	16q22.1	HP	70646008	70652458		Roguin, A.  et al. 2002	11909563				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			The American journal of cardiology. 2002 Apr;89(7):806-10	Haptoglobin phenotype and the risk of restenosis after coronary artery stent implantation.		140100	24873	2	2002	Thus, knowledge of the haptoglobin phenotype may be useful in assessing and utilizing new therapies that attempt to reduce restenosis, and may have important implications for the risk stratification algorithm used in managing diabetic patients with coronary artery disease.	Cohort 214 consecutive patients undergoing stent implantation for de novo lesions Aalst, Belgium 1998-1999 										
126387		myocardial infarct; heart failure	CARDIOVASCULAR	CARD		16	16q22.1	HP	70646008	70652458		Bandyopadhyay, A. R.  et al. 2005	16176058				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Anthropol Anz. 2005 Sep;63(3):335-40	Interaction between haptoglobin subtypes and AB0 blood groups in a Bengalee population.		140100	22242	2	2005												
126380	Y	nephropathy	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	16	16q22.1	HP	70646008	70652458		Nakhoul, F. M.  et al. 2001	11380078				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDPinfo	3240	Hs.134406			Diabetologia. 2001 May;44(5):602-4	Haptoglobin phenotype and diabetic nephropathy.		140100	17524	2	2001	By showing a graded risk relation to the number of haptoglobin 2 alleles in Type I and Type II diabetic subjects, these studies further support our hypothesis that the haptoglobin phenotype is a major susceptibility gene for the development of diabetic nephropathy.	Cohort 110 consecutive normotensive subjects with Type 1 diabetes mellitus and Type II (non-insulin-dependent) diabetes mellitus seen in two outpatient clinics 										
126369		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	16	16q22.1	HP	70646008	70652458		Lucarelli P 1978	621091				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			Y Wang	3240	Hs.134406			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		140100	3195	1	2004												
126410	Y	lung cancer	CANCER	CAN	Lung Neoplasms	11	11p15.5	HRAS	522241	525550		Pierce, L. M.  et al. 2000	11097227				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2	Japanese		CDC GDPinfo	3265	Hs.37003			Cancer epidemiology, biomarkers & prevention. 2000 Nov;9(11):1199-204	Relationships of TP53 codon 72 and HRAS1 polymorphisms with lung cancer risk in an ethnically diverse population		190020	11342	2	2000	This study suggests that the presence of two rare HRAS1 alleles confers an increased lung cancer risk in Native Hawaiians and Japanese but possibly not in Caucasians. The amino acid replacement of arginine by proline at codon 72 of TP53 appears not to be important in determining lung cancer risk in this population.	Case:334 incident lung cancer cases of Caucasian, Japanese, or Native Hawaiian origin;Control:446 controls of Caucasian, Japanese, or Native Hawaiian:origin										
126549		diabetes, type 1	IMMUNE	IMM	Albuminuria|Diabetes Mellitus, Type 1	1	1p36.1-p35	HSPG2	22021323	22136337		Hansen PM et al. 1997	9313766				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3		Great Britain|Denmark	KGB	3339	Hs.562227	urinary albumin excretion		Diabetes. 1997 Oct;46(10):1658-9	Genetic variation of the heparan sulfate proteoglycan gene (perlecan gene). Association with urinary albumin excretion in IDDM patients.		142461	3227	1	1997												
127213	Y	allergic disease	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic|Hypersensitivity|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Aoki M 2003	12851715				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			KGB	3459	Hs.520414			International journal of molecular medicine. 2003 Aug;12(2):185-91	A novel single-nucleotide substitution, Leu 467 Pro~~~ in the interferon-gamma receptor 1 gene associated with allergic diseases.		107470	3418	1	2003	Our results suggest that some allergic patients have IFNGR dysfunction, and that L467P in the IFNGR1 gene is one of candidate susceptibility genes for allergic diseases.	Control:72 non-allergic subjects;Case:89 allergic patients										
127580		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	1	1q31-q32	IL10	205007570	205012462		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		124092	27006	2	2002	Review article											
127562		rheumatoid arthritis; HIV; Rheiter's syndrome; urogenital disorders	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Konenkov, V. I.  et al. 2001	12687213				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Russian journal of immunology. 2001 Jul;6(2):123-130	Polymorphism of Immune Response Genes as a Factor for Predisposition to Development of Diseases.		124092	24934	2	2001	Our obtained results may be used as informative criteria for prognosis of resistand or predisposition to different diseases.	Control:controls;Case:36/35/50/20 patients with rheumatoid arthritis (n=36), with Rheiter's syndrome (n=35), with urogenital infections and inflammatory processes (n=50) and AIDS patients (n=20)	C. trachomadis M. hominus									
127549		kidney transplant	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Tinckam, K.  et al. 2005	15818327				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation. 2005 Apr;79(7):836-41	The relative importance of cytokine gene polymorphisms in the development of early and late acute rejection and six-month renal allograft pathology.		124092	22446	2	2005	 High transforming growth factor-beta1 producer phenotype seems to be protective against acute inflammation, whereas H and I interferon-gamma, TNFalpha, and interleukin-10 producer genotypes correlate with adverse outcomes. Cytokine genotyping identifies individuals who may benefit from more intensive surveillance and treatment posttransplant.	Cohort 118 renal transplant recipients 										
127538		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Embryo Loss	1	1q31-q32	IL10	205007570	205012462		Costeas, P. A.  et al. 2004	14969768				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2004 Feb;65(2):135-41	Th2/Th3 cytokine genotypes are associated with pregnancy loss		124092	22435	2	2004	Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.	Case abortion-prone female patients;Control women with successful pregnancies										
127526		heart failure	CARDIOVASCULAR	CARD	Shock, Cardiogenic|Critical Illness	1	1q31-q32	IL10	205007570	205012462		Appoloni, O.  et al. 2004	15189946				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Chest. 2004 Jun;125(6):2232-7	Association between the TNF-2 allele and a better survival in cardiogenic shock.		124092	22423	2	2004	 Patients with the TNF-2 allele have no greater risk of cardiogenic shock but a better survival rate when it develops. Different genetic factors appear to influence the risk of development of, and outcome from, cardiogenic shock.	Case:33 adult patients with cardiogenic shock of recent (< 4 h) onset;Control:48 healthy control subjects										
127515		graft-vs-host disease	IMMUNE	IMM	Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Tambur, A. R.  et al. 2001	11266928				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):502-3	Cytokine gene polymorphism in patients with graft-versus-host disease.		124092	22412	2	2001	In view of these data, and other recent reports in the literature, the role of TGF-beta in manipulating immune response should be reassessed.	Case:24 bone marrow transplant recipients:1996-1999;Control:43 healthy controls										
127500		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	1	1q31-q32	IL10	205007570	205012462		Amirzargar, A. A.  et al. 2005	15932621				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Iranian		CDC GDPinfo	3586	Hs.193717			International journal of immunogenetics. 2005 Jun;32(3):167-71	Cytokine gene polymorphism in Iranian patients with chronic myelogenous leukaemia.		124092	22397	2	2005	The results suggest that production of TGF-beta in CML patients is higher and production of IL-4 and IL-10 is lower than in normal subjects.	Case:30 Iranian patients with chronic myelogenous leukemia;Control:40 healthy subjects										
127484		uveitis	IMMUNE	IMM	Uveitis, Intermediate	1	1q31-q32	IL10	205007570	205012462		Stanford, M. R.  et al. 2005	16024856				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The British journal of ophthalmology. 2005 Aug;89(8):1013-6	Are cytokine gene polymorphisms associated with outcome in patients with idiopathic intermediate uveitis in the United Kingdom?		124092	22381	2	2005	 These results show that disease outcome in intermediate uveitis may be partly determined by a complex interplay between cytokine genes and these results may have implications for future treatment with biological agents that target these cytokines.											
127481	N	Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Inflammation	1	1q31-q32	IL10	205007570	205012462		Munro, L. R.  et al. 2003	14959851				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Leukemia & lymphoma. 2003 Dec;44(12):2083-8	Polymorphisms in the interleukin-10 and interferon gamma genes in Hodgkin lymphoma		124092	22378	2	2003	We found little evidence IL-10 and IFNgamma genotypes predispose to the development of HL or influence the inflammatory host response.	Cohort 147 cases of Hodgkin lymphoma 										
127466		sepsis	INFECTION	INF	Sepsis|Critical Illness	1	1q31-q32	IL10	205007570	205012462		Nakada, T. A.  et al. 2005	16051275				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	CDC GDPinfo	3586	Hs.193717			The Journal of surgical research. 2005 Dec;129(2):322-8	Influence of Toll-like Receptor 4, CD14, Tumor Necrosis Factor, and Interleukine-10 Gene Polymorphisms on Clinical Outcome in Japanese Critically Ill Patients.		124092	22363	2	2005												
127461	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		van der Linde, K.  et al. 2005	15843082				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Dutch	Netherlands	CDC GDPinfo	3586	Hs.193717			Digestive and liver disease. 2005 May;37(5):330-5	A functional interleukin-10 mutation in Dutch patients with Crohn's disease.		124092	22358	2	2005	 The interleukin-10 Gly15Arg mutation is rare in patients with Crohn's disease, and is not associated with the disease in the Netherlands.	Case:379 patients with Crohn's disease the Netherlands;Control:75 unrelated healthy controls										
127457		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Delgado, J. C.  et al. 2002	12404162				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			The Journal of infectious diseases. 2002 Nov;186(10):1463-8	Ethnic-specific genetic associations with pulmonary tuberculosis.		124092	19455	2	2002	The novel pattern of genetic associations with susceptibility and resistance to TB detected in Cambodia is consistent with the conclusion that unique environmental and natural selective factors have resulted in the development of ethnic-specific host genetic factors associated with TB susceptibility and resistance worldwide.	Control:106 tuberculin-positive controls subjects;Case:358 Cambodian patients with pulmonary TB:Cambodia										
127443	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Bushley, A. W.  et al. 2004	15581980				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Gynecologic oncology. 2004 Dec;95(3):672-9	Polymorphisms of interleukin (IL)-1alpha, IL-1beta, IL-6, IL-10, and IL-18 and the risk of ovarian cancer.		124092	11896	2	2004	 Overall, this study does not support an association of selected IL-1alpha, IL-1beta, IL-6, IL-10, or IL-18 polymorphisms with the risk for ovarian cancer. However, the IL-18 G137C variant may be a marker for ovarian cancer progression or metastasis.	Case:182 epithelial ovarian cancer cases;Control:219:controls										
127421	N	liver disease	OTHER	OTH	Liver Cirrhosis, Biliary|Hepatitis, Autoimmune	1	1q31-q32	IL10	205007570	205012462		Chen, Q. B.  et al. 2004	15225432			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Zhonghua gan zang bing za zhi. 2004 Jun;12(6):356-8	[A study on the relationship between interleukin-10 promoter polymorphism and autoimmune liver disease]		124092	11635	2	2004	 There were no association between IL-10 gene polymorphisms and autoimmune liver disease	Control healthy controls;Case:54/77 Chinese patients with autoimmune liver disease or 77 Chinese patients with PBC										
127410		syncytial virus bronchiolitis	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Bronchiolitis	1	1q31-q32	IL10	205007570	205012462		Hoebee B 2004	14722888			5' promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			The Journal of infectious diseases. 2004 Jan;189(2):239-47	Influence of promoter variants of interleukin-10, interleukin-9, and tumor necrosis factor-alpha genes on respiratory syncytial virus bronchiolitis.		124092	3860	1	2004	No significant associations of TNF-alpha and IL-9 polymorphisms with RSV bronchiolitis were observed. We also explored the interactions between different polymorphisms and found an interaction between the IL-4Ralpha Q551R and IL-10 C-592A polymorphisms.	Control:controls;Case children with respiratory synctial virus		IL-4	Ralpha Q551R	IL-10	C-592A			Y		syncytial virus bronchiolitis
127409	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Guseva IA 2003	12847896				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Kazakhstan	Y Wang	3586	Hs.193717			Ter Arkh. 2003 ;75(5):36-41	Polymorphism of Fc gamma RIIIA-158F/V gene and promoter region of IL-10 gene in systemic lupus erythematosus in Kazakhs , trans Polimorfizm gena FcgammaRIIIA-158F/V i promotornoi oblasti gena IL-10 pri sistemnoi krasnoi volchanke u kazakhov.		124092	3859	1	2003	 Polymorphism of genes Fc gamma RIIIA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes Fc gamma RIIIA and IL-10 on the risk to develop SLE.	Case:49 Kazakh nationality patients with systemic lupus:erythematosus;Control:81 healthy subjects										
127394		hepatitis C virus infection.	INFECTION	INF	Hepatitis C|Disease Progression|Fibrosis	1	1q31-q32	IL10	205007570	205012462		Knapp S 2003	12942209			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Immunogenetics. 2003 Sep;55(6):362-9	Interleukin-10 promoter polymorphisms and the outcome of hepatitis C virus infection.		124092	3844	1	2003	We conclude that  polymorphisms in the IL-10 promoter appear to have some influence on the outcome of HCV infection, treatment and development of fibrosis.											
127393		epidermodysplasia verruciformis	OTHER	OTH	Epidermodysplasia Verruciformis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		de Oliveira WR 2003	14512909			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Brazil	KGB	3586	Hs.193717			Journal of the American Academy of Dermatology. 2003 Oct;49(4):639-43	Polymorphisms of the interleukin 10 gene promoter in patients from Brazil with epidermodysplasia verruciformis.		124092	3843	1	2003	 IL-10 genotypes associated with low levels of IL-10 production may have an important role in the pathogenesis of EV, including the susceptibility for development of skin cancer in patients with EV.											
127343	N	Asthma. DRS. Total IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	n	Immervoll T 2001	11668616	C-592A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	German. Swedish		KCB	3586	Hs.193717			Human mutation. 2001 Oct;18(4):327-36			124092	3793	1	2001												
127662	N	asthma; diabetes, type 1	IMMUNE	IMM	Asthma|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Bassuny, W. M.  et al. 2003	12719941				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2	Japanese	Japan	CDC GDPinfo	3595	Hs.479347			Immunogenetics. 2003 Jun;55(3):189-92	Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population.		601642	22461	2	2003	AS a result, we could not find a positive association of these polymorphisms with type 1 diabetes or asthma in the Japanese population.	Case:150/158 patients with type 1 diabetes (n=150) and with atopic asthma (n=158):Japan;Control:200 normal children										
128284		hepatitis C	INFECTION	INF	Hepatitis C, Chronic	1	1q32	IL20	205105321	205109191		Oleksyk, T. K.  et al. 2005	15815689				Interleukin 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018724.3	African American		CDC GDPinfo	50604	Hs.272373			Genes and immunity. 2005 Jun;6(4):347-57	Single nucleotide polymorphisms and haplotypes in the IL10 region associated with HCV clearance.		605619	25004	2	2005	Our results indicate that variants of the immunomodulatory IL10 and IL19/IL20 genes may be involved in natural clearance of HCV in the African-American population.	Case:108 European American HCV clearance cases;Control:183 chronically infected African American matched:controls;Control:245 chronically infected European American controls;Case:91 African American HCV clearance cases										
140363		Systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141		Schotte H. 2001	11312376	-174	assoc. with clinical and immu. Features		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Germany	KGB	3569	Hs.512234			Rheumatology (Oxford, England). 2001 Apr;40(4):393-400			147620	7205	1	2001	 The IL-6 promoter polymorphism --174 G/C does not contribute significantly to disease susceptibility, but predisposes to distinct clinical and immunological features. A genetically determined high IL-6 response may have a pathogenic role under these conditions.											
140391	Y	sepsis	INFECTION	INF	Sepsis	7	7p21	IL6	22733322	22738141	p < 0.001	Ahrens P 2004	14739370	IL6-174G/C		5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234	development of neonatal sepsis in very low birthweight (VLBW) infants		Pediatric research. 2004 Apr;55(4):652-6	Mutations of genes involved in the innate immune system as predictors of sepsis in very low birth weight infants.		147620	7233	1	2004	The increased sepsis rate of homozygous IL6-174G carriers was especially related to an increase in Gram-positive infections, and was not observed in VLBW infants who received prophylaxis with teicoplanin (frequency of Gram-positive sepsis in homozygous IL6-174G carriers without prophylaxis 16.5% versus 2.4% in homozygous IL6-174G carriers with prophylaxis; p = 0.033).	Cohort 356 very low birth weight infants										
140397	N	parvovirus B19 infection	INFECTION	INF	Parvoviridae Infections	7	7p21	IL6	22733322	22738141	n	Kerr JR 2003	14514772	-174			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of clinical pathology. 2003 Oct;56(10):725-7	Cytokine gene polymorphisms associated with symptomatic parvovirus B19 infection.		147620	7239	1	2003	 The results of the present study suggest that inherited variability in cytokine responses may affect the likelihood of developing symptoms during parvovirus infection.	Control:controls;Case:36 patients with a variety of symptoms of parvovirus at acute infection and follow up										
140399	Y	systemic juvenile idiopathic arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Ogilvie EM 2003	14613283				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Arthritis and rheumatism. 2003 Nov;48(11):3202-6	The -174G allele of the interleukin-6 gene confers susceptibility to systemic arthritis in children: a multicenter study using simplex and multiplex juvenile idiopathic arthritis families.		147620	7241	1	2003	 This study confirms that the IL-6 -174 nucleotide variant is significantly associated with systemic JIA. The significant excess transmission to patients with age at onset >5 years but not to those with age at onset < or =5 years suggests that there may be genetic heterogeneity between the 2 groups.											
140403	Y	hepatitis C infection	INFECTION	INF	Hepatitis C	7	7p21	IL6	22733322	22738141	0.02	Barrett S 2003	12938195				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Journal of medical virology. 2003 Oct;71(2):212-8	Polymorphisms in tumour necrosis factor-alpha, transforming growth factor-beta, interleukin-10, interleukin-6, interferon-gamma, and outcome of hepatitis C virus infection.		147620	7245	1	2003	No associations were observed between polymorphisms of TNF-alpha, IL-10, or IFN-gamma and viral clearance or persistent infection. Furthermore, there were no associations between cytokine genotypes and severity of disease. Inheritance of some genotypes associated with polymorphisms of cytokine genes, such as IL-6, may be host genetic factors associated	Cohort 158 individuals (66 had spontaneously recovered from infection (persistently HCV RNA negative), while 92 had persistent infection (persistently HCV RNA positive))										
140425		dementia, multi-infarct	PSYCH	PSY	Dementia, Multi-Infarct	7	7p21	IL6	22733322	22738141		Pola, R.  et al. 2002	12086705	(-174G/C)			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Experimental gerontology. 2002 Jul;37(7):949-55	-174 G/C interleukin-6 gene polymorphism and increased risk of multi-infarct dementia: acase-control study.		147620	11856	2	2002	Our data support the hypothesis that IL-6 and inflammatory mechanisms are important in the pathophysiology of the vascular changes responsible for cognitive deterioration.	Case:122 patients affected by multi-infarct dementia;Control:134 age- and sex-matched controls										
140430		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p21	IL6	22733322	22738141		Campa, D.  et al. 2003	14604894				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Carcinogenesis. 2004 Feb;25(2):229-35	Association of a common polymorphism in the cyclooxygenase 2 gene with risk of non-small cell lung cancer.		147620	11878	2	2003	This is the first study implicating polymorphisms in inflammatory genes to the risk of lung cancer.	Control:214:controls;Case:250 lung cancer patients										
140435		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression|Inflammation	7	7p21	IL6	22733322	22738141		Leibovici, D.  et al. 2005	16110031				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of clinical oncology. 2005 Aug;23(24):5746-56	Polymorphisms in inflammation genes and bladder cancer: from initiation to recurrence, progression,and survival.		147620	11913	2	2005	 Inflammation gene polymorphisms are associated with modified BC risk, treatment response, and survival.		smoking (tobacco)	IL6	(-174 G-->C)	TNF-alpha	-308 G-->A	PPARG	Pro12Ala	Y	smoking (tobacco)	bladder cancer
140439		insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity, Morbid|Weight Loss	7	7p21	IL6	22733322	22738141		Sesti, G.  et al. 2005	15985484				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The Journal of clinical endocrinology and metabolism. 2005 Sep;90(9):5064-9	Impact of common polymorphisms in candidate genes for insulin resistance and obesity on weight loss of morbidly obese subjects after laparoscopic adjustable gastric banding and hypocaloric diet.		147620	14621	2	2005	 These data demonstrate that genetic factors, which play an important role in the regulation of body weight, may account for differences in the therapeutic response to LAGB.											
140455		allograft dysfunction, renal	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Tian, Y.  et al. 2002	12133353				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2002 Apr;40(4):256-8	[Influence of cytokine gene polymorphism on renal transplantation]		147620	22599	2	2002	 This study demonstrated that TNF-alpha and IL-10 gene polymorphism has significant influence on the incidence of acute rejection in renal transplantation.	Case:115 consecutive renal transplant recipients;Control:24 normal people										
140460		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7p21	IL6	22733322	22738141		Ross, O. A.  et al. 2004	15120188				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Irish	Ireland	CDC GDPinfo	3569	Hs.512234			Human immunology. 2004 Apr;65(4):340-6	Functional promoter region polymorphism of the proinflammatory chemokine IL-8 gene associates with Parkinson's disease in the Irish.		147620	22604	2	2004	This association further supports the theory that the proinflammatory response in the brains of patients with PD plays a role in the pathogenesis of the disease and warrants further investigation into the role of chemokines in the brain, and a more detailed analysis of the genetics involved in the immune response of the brain.	Case a cohort of patients with Parkinson's disease:Ireland;Control healthy elderly individuals										
140469	N	melanoma	CANCER	CAN	Melanoma	7	7p21	IL6	22733322	22738141		Martinez-Escribano, J. A.  et al. 2002	12394188				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Melanoma research. 2002 Oct;12(5):465-9	Interleukin-10, interleukin-6 and interferon-gamma gene polymorphisms in melanoma patients		147620	25044	2	2002	These data indicate that investigation of polymorphisms in the regulatory regions of IL10, IL6 and INFgamma genes does not seem to be useful for predicting the risk of development of primary cutaneous melanoma. However, IL10 low expression genotypes may be associated with a poorer outcome in melanoma patients.	Case:42 melanoma patients;Control:48 healthy controls										
140478		allograft outcome	IMMUNE	IMM	Hepatitis C|Genetic Predisposition to Disease|Recurrence	7	7p21	IL6	22733322	22738141		Tambur, A. R.  et al. 2001	11391238				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Transplantation. 2001 May;71(10):1475-80	Role of cytokine gene polymorphism in hepatitis C recurrence and allograft rejection among liver transplant recipients.		147620	25053	2	2001	 While no significant correlation was detected between particular cytokine profile and early rejection episodes, our data strongly suggest an association between cytokine gene polymorphism of TGF-beta, IL-10, and INF-gamma and recurrence of hepatitis C in LTx recipients.	Control:49 healthy Caucasian individuals;Case:68 liver transplant recipients										
140489		kidney transplant	IMMUNE	IMM	Hypertension|Diabetes Mellitus|Hyperlipidemias|Genetic Predisposition to Disease|Hyperuricemia	7	7p21	IL6	22733322	22738141		Babel, N.  et al. 2004	15200452				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Kidney international. 2004 Jul;66(1):428-32	Nonimmunologic complications and gene polymorphisms of immunoregulatory cytokines in long-term renal transplants		147620	25064	2	2004	 We established an association of particular cytokine genotypes with nonimmunologic post-transplant complications. This supports an idea that assessment of cytokine SNPs may allow more accurate prediction of nonimmunologic complications and appropriate adjustment of pre-emptive treatments in long-term transplant patients.	Cohort 278 long-term renal transplant subjects 										
140498		tuberculosis	INFECTION	INF	Tuberculosis, Miliary|Tuberculosis, Pleural|Tuberculosis, Pulmonary	7	7p21	IL6	22733322	22738141		Henao, M. I.  et al. 2005	15925543				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Colombian		CDC GDPinfo	3569	Hs.512234			Tuberculosis (Edinburgh, Scotland). 2006 Jan;86(1):9-Nov	Cytokine gene polymorphisms in Colombian patients with different clinical presentations of tuberculosis.		147620	25073	2	2005	Results suggest that IL-10 low-producer polymorphism and IFN-gamma high-producer polymorphism are associated with pleural TB.	Case:140/30/20 patients with pulmonary TB (n=140), with pleural TB (n=30) and with miliary TB (n=20);Control:54/81 tuberculin-negative healthy controls (n=54) and tuberculin-positive heatlhy controls (n=81)										
140518		asthma; eczema; allergic disease	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Meenagh, A.  et al. 2002	12392859				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human immunology. 2002 Nov;63(11):1055-61	Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America.		147620	25093	2	2002	No conclusion stated in abstract	Cohort Five population samples, including Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos. 										
140543		metabolism disorders	METABOLIC	MET	Coronary Disease|Metabolic Diseases|Metabolic Syndrome X	7	7p21	IL6	22733322	22738141		McCarthy, J. J.  et al. 2003	14557872				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human genetics. 2003 Dec;114(1):87-98	Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients		147620	27513	2	2003	Our results propose several new candidate genes for the metabolic syndrome and suggest that the genetic basis of this syndrome may be strongly modified by gender.	Cohort 214/91 male (n=214) and female (n=91) coronary artery disease patients 										
128593		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	5	5p13	IL7R	35892747	35912680		Zhang, Z.  et al. 2005	15674389				Interleukin 7 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002185.2			CDC GDPinfo	3575	Hs.591742			Genes and immunity. 2005 Mar;6(2):145-52	Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis.		146661	17788	2	2005	These results imply that germline allelic variation in genes involved in immune homeostasis-and, by extension, derangement of immune homeostasis-influence the risk of MS.	Case:672 multiple sclerosis patients;Control:672:controls										
128664	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	18	18p11.2	IMPA2	11971056	12020876		Dimitrova, A.  et al. 2004	15505643				Inositol(myo)-1(or 4)-monophosphatase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014214.1			CDC GDPinfo	3613	Hs.367992			The pharmacogenomics journal. 2005 ;5(1):35-41	Association study of myo-inositol monophosphatase 2 (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment		605922	11933	2	2004	We cannot find support for the involvement of variation in IMPA2 in susceptibility to bipolar disorder, but the role of this and other genes from the phosphoinositol signalling pathway in predicting response to lithium treatment merits further investigation.	Control:170:controls;Case:174 bipolar affective disorder patients	lithium									
128965		insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	13	13q34	IRS2	109204184	109236915		Haap, M.  et al. 2005	15926113				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDPinfo	8660	Hs.442344			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		600797	27054	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
128953		diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	13	13q34	IRS2	109204184	109236915		Okazawa, K.  et al. 2005	15811564				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Japanese	Japan	CDC GDPinfo	8660	Hs.442344			Diabetes research and clinical practice. 2005 Apr;68(1):39-48	The haplotypes of the IRS-2 gene affect insulin sensitivity in Japanese patients with type 2 diabetes.		600797	17853	2	2005												
129256		long-QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Itoh, T.  et al. 2001	11289718				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Journal of human genetics. 2001 ;46(1):38-40	Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.		152427	25141	2	2001	In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta-adrenergic blocking agents than those with KCNH2 mutations. This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseases of heterogeneous genetic etiology.	Cohort patients responding to beta-adrenergic blocking agents 	beta blockers									
140606		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Zareba W 2003	12849668				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			KGB	3784	Hs.95162			Journal of the American College of Cardiology. 2003 Jul;42(1):103-9	Modulating effects of age and gender on the clinical course of long QT syndrome by genotype.		607542	4168	1	2003	Age and gender have different, genotype-specific modulating effects on the probability of cardiac events and electrocardiographic presentation in LQT1 and LQT2 patients.	Cohort 243/209/81 cases of LQTS caused by the KCNQ1 potassium channel gene mutations (n=243), cases of LQTS caused by the HERG potassium channel gene mutations (n=209), and cases of LQTS caused by the SCN5A sodium channel gene mutation (n=81)										
129328	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	8	8q24	KCNQ3	133210437	133562186	n	Haug K et al. 2000	10996506				Potassium voltage-gated channel, KQT-like subfamily, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004519.2			KGB	3786	Hs.374023			Epilepsy research. 2000 Nov;42(1):57-62	No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy.		602232	4172	1	2000												
140672	N	lupus erythematosus; rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC2	10456180	10479859		Miyashita, R.  et al. 2004	14688071				killer cell lectin-like receptor subfamily C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002260.3	Japanese, Dutch	Japan|Netherlands	CDC GDPinfo	3822	Hs.591157			International immunology. 2004 Jan;16(1):163-8	Molecular genetic analyses of human NKG2C (KLRC2) gene deletion		602891	17955	2	2004	These results indicated that NKG2C deletion is commonly present in Japanese and Dutch, suggesting that NKG2C is not essential for survival and reproduction, and is not associated with rheumatic diseases.											
129617	N	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate	19	19q13.4	LILRB4	59847151	59871658	n	Heinzmann A 2000	10940079	Gln333His			leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4		German		KGB	11006	Hs.67846			European journal of immunogenetics. 2000 Jun;27(3):121-7			604821	6689	1	2000												
129690		High-density lipoprotein-cholesterol levels	OTHER	OTH	Body Weight	18	18q21.1	LIPG	45342424	45373276		Halverstadt A 2003	14624415				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2			KGB	9388	Hs.465102			Metabolism:  clinical and experimental. 2003 Nov;52(11):1505-11	High-density lipoprotein-cholesterol, its subfractions~~~ and responses to exercise training are dependent on endothelial lipase genotype		603684	6633	1	2003	We conclude that  the LIPG genotype is associated with interindividual variability in HDL-C and its subfractions and their response to exercise training.											
130003		urinary tract infection	UNKNOWN	UNK	Urinary Tract Infections|Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Hughes, L. B.  et al. 2004	15526004				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Genes and immunity. 2004 Dec;5(8):641-7	Genetic risk factors for infection in patients with early rheumatoid arthritis.		153440	25206	2	2004	These findings have important implications for the role of genetics in susceptibility to bacterial and viral infections.	Cohort 457 subjects with early rheumatoid arthritis 										
129982	Y	sepsis; serum tumor necrosis factor-alpha levels	INFECTION	INF		6	6p21.3	LTA	31647718	31650077		McArthur, J. A.  et al. 2002	12780951				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Pediatric critical care medicine. 2002 Oct;3(4):341-4	Association between the A/A genotype at the lymphotoxin-alpha+250 site and increased mortality in children with positive blood cultures.		153440	18105	2	2002	 The AA genotype at the lymphotoxin-alpha+250 site is associated with higher serum tumor necrosis factor-alpha levels and a higher mortality in children with bacteremia.	Cohort children with bacteriemia 										
129977	N	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute	6	6p21.3	LTA	31647718	31650077		Zhao, H. Y.  et al. 2003	12917036				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDPinfo	4049	Hs.36			Ai zheng. 2003 Aug;22(8):861-6	[Relationship between Tumor Necrosis Factor Genetic Polymorphisms and Acute Lymphocytic Leukemia]		153440	14346	2	2003	 These data suggest that genetic polymorphisms in the TNFalpha(-308) and LTalpha(+252) are not crucial in the pathogenesis, clinical course, and outcome of ALL patients.	Case:29 Chinese patients with acute lymphocytic leukemia;Control:72 normal controls		TNFalpha	(-308)	LTalpha	(+252)			N		acute lymphocytic leukemia
129964	Y	complications after major abdominal operations	OTHER	OTH	Sepsis|Genetic Predisposition to Disease|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Riese J et al. 2003	12558135				lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Shock (Augusta, Ga). 2003 Jan;19(1):4-Jan	Association of a TNFbeta gene polymorphism with complications after major abdominal operations.		153440	7573	1	2003	These data indicate an association between TNFbeta polymorphism and postoperative complications and they suggest the B2/B2 genotype as a high risk factor for the development of sepsis after elective operative trauma.	Cohort 172 patients of elective major abdominal operations										
129956		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	LTA	31647718	31650077		Bettinotti MP 1993	8436420				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			Y Wang	4049	Hs.36			Immunogenetics. 1993 ;37(6):449-54	Polymorphism of the tumor necrosis factor beta gene in systemic lupus erythematosus: TNFB-MHC haplotypes.		153440	4390	1	1993												
129951		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Kankova K 2001	11399938				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Caucasian		Y Wang	4049	Hs.36	diabetic retinopathy		Ophthalmologica. 2001 Jul-Aug;215(4):294-8	Duration of non-Insulin-dependent diabetes mellitus and the TNF-beta NcoI genotype as predictive factors in proliferative diabetic retinopathy.		153440	4385	1	2001	Our results identified the allele variant TNF-beta(2) being associated with PDR in NIDDM. Diabetes duration and the TNF-beta NcoI genotype were proven to significantly predict PDR occurrence. The TNF-beta(2) allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.	Case non-PDR NIDDM subjects;Control:176 nondiabetic subjects;Case:246 Caucasian non-insulin-dependent diabetes mellitus (NIDDM) subjects with defined proliferative diabetic retinopathy status (PDR)										
129944		diabetes, type 1	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1	6	6p21.3	LTA	31647718	31650077		Rau H 2004	9174153				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			Y Wang	4049	Hs.36			Tissue antigens. 1997 May;49(5):535-6	Polymorphisms of tumor necrosis factor receptor 2 are not associated with insulin-dependent diabetes mellitus or Graves' disease		153440	4378	1	2004												
130036	N	Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q35	LTC4S	179153591	179156119	n	Hakonarson H 2001	11739132	A-348C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Icelandic	Iceland	KCB	4056	Hs.631951			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			246530	4400	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
140793	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Levecque, C.  et al. 2004	14966169				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Journal of neurology, neurosurgery, and psychiatry. 2004 Mar;75(3):478-80	Association of polymorphisms in the Tau and Saitohin genes with Parkinson's disease		157140	12310	2	2004	 The data suggest that there is a functional polymorphism at this locus involved in Parkinson's disease.	Case:208 Parkinson's disease patients;Control:483:controls										
140802		dementia; neuropathy	PSYCH	PSY	Dementia|Tauopathies	17	17q21.1	MAPT	41327623	41461546		Stanford, P. M.  et al. 2004	15372253				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDPinfo	4137	Hs.101174			Journal of neurology. 2004 Sep;251(9):1098-104	Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies.		157140	18148	2	2004	Although tauopathies have been considered to result from genetic defects, screening for tau gene mutations in sporadic cases is not likely to identify pathogenic mutations.	Cohort 64 individuals with clinical features consistent with frontotemporal dementia and other tauopathies referred over a three year period 										
142658	Y	psoriasis	IMMUNE	IMM	Psoriasis	6	6p21.3	MICB	31573944	31586880		Tay GK et al. 2000	10691930								KGB	4277	Hs.211580			Clinical and experimental immunology. 2000 Mar;119(3):553-8	PERB11 (MIC): a polymorphic MHC gene is expressed in skin and single nucleotide polymorphisms are associated with psoriasis.		602436	8031	1	2000	These findings suggest a possible role for PERB11 and other MHC genes in the pathogenesis of psoriasis.											
130849	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p22.1	MOG	29732787	29748128		Roth MP et al. 1995	7593547				Myelin oligodendrocyte glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206809			KGB	4340	Hs.141308			Journal of neuroimmunology. 1995 Sep;61(2):117-22	Myelin oligodendrocyte glycoprotein (MOG) gene polymorphisms and multiple sclerosis: no evidence of disease association with MOG.		159465	4568	1	1995	This is not in favour of the implication of the MOG gene in the genetic component of multiple sclerosis, unless different independent mutations have occurred within this gene.											
131182	Y	Krebs von den Lungen-6 Levels	UNKNOWN	UNK	Sarcoidosis	1	1q21	MUC1	153424923	153429324			16357367				Mucin 1, transmembrane	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002456.4			CDC GDPinfo	4582	Hs.89603			American journal of respiratory cell and molecular biology. 2005	The Mucin-1 568 Adenosine to Guanine Polymorphism Influences Serum Krebs von den Lungen-6 Levels		158340	12619	2	2005												
141188	N	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p34.2	MYCL1	40133684	40140274		Spinola, M.  et al. 2004	15075794	(Ser362Thr)			V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			European journal of cancer prevention. 2004 Feb;13(1):87-9	A new polymorphism (Ser362Thr) of the L-myc gene is not associated with lung adenocarcinoma risk and prognosis		164850	12632	2	2004	Thus, the present results do not support candidacy of the L-myc Ser362Thr polymorphism for the functional polymorphism of the L-myc genomic region.	Case:220 Italian lung adenocarcinoma patients;Control:230 population controls										
131488		breast cancer	CANCER	CAN	Breast Neoplasms	20	20q12	NCOA3	45564063	45719021		Burwinkel, B.  et al. 2005	15788663				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1		Poland|Germany	CDC GDPinfo	8202	Hs.592142			Clinical cancer research. 2005 Mar;11(6):2169-74	Association of NCOA3 polymorphisms with breast cancer risk.		601937	12666	2	2005	Because of the impact of NCOA3 in antiestrogen therapy resistance, these polymorphisms might also influence therapy outcome in breast cancer.	Control:controls;Case breast cancer cases from German and Polish study:populations										
131520	Y	motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease	22	22q12.2	NEFH	28206218	28217277		Skvortsova, V. I.  et al. 2003	12674703				Neurofilament, heavy polypeptide 200kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021076.2			CDC GDPinfo	4744	Hs.198760			Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2003 ;103(2):38-44	[Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development]		162230	12675	2	2003	These findings specify the role of NF-H with lower molecular weight in MND pathogenesis and make expedient antioxidants administration to MND patients homozygous for S-allele of NF-H gene.	Control:controls;Case:51 patients with idiopathic motor neuron disease										
131673	Y	dementia	OTHER	OTH	Lewy Body Disease|Alzheimer Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Xu W et al. 2000	10674474				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			KGB	4843	Hs.462525			Neuroreport. 2000 Feb;11(2):297-9	The CCTTT polymorphism in the NOS2A gene is associated with dementia with Lewy bodies.		163730	4724	1	2000												
131669	Y	Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682	P<0.01	Konno S 2001	11692109	(CCTTT)n repeat promoter polymorphism			Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese		KGB	4843	Hs.462525			The Journal of allergy and clinical immunology. 2001 Nov;108(5):810-4	(CCTTT)n repeat polymorphism in the NOS2 gene promoter is associated with atopy		163730	4720	1	2001	 Our findings suggest that the (CCTTT)(n) repeat polymorphism in the promoter of the NOS2 gene that affects promoter activity is a risk factor for the development of atopy, and this genetic effect seems independent of asthma.	Control:102 atopic healthy controls;Control:141 nonatopic healthy controls;Case:198 atopic asthmatic subjects;Case:56 nonatopic asthmatic subjects										
141200		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6pter-q12	NQO2	2933199	2964993		Okada, S.  et al. 2005	15694256				NAD(P)H dehydrogenase, quinone 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000904.1			CDC GDPinfo	4835	Hs.533050			Neuroscience letters. 2005 Mar;375(3):178-80	No associations between Parkinson's disease and polymorphisms of the quinone oxidoreductase (NQO1, NQO2) genes.		160998	23175	2	2005	No associations were detected for either gene variant or for any allele combinations.	Case:190 idiopathic Parkinson's disease patients;Control:305 unrelated controls matched on age and sex										
132060	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p13.3	NTNG1	107484267	107825998		Fukasawa, M.  et al. 2004	15508520				Netrin G1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014917.2	Japanese	Japan	CDC GDPinfo	22854	Hs.143707			Journal of medical and dental sciences. 2004 Jun;51(2):121-8	Case-control association study of human netrin G1 gene in Japanese schizophrenia.		608818	18743	2	2004	These findings suggest that netrin G1 or a nearby gene may contribute to the overall genetic risk for schizophrenia.	Case:180 schizophrenic cases;Control:180:controls										
132145		mental retardation	DEVELOPMENTAL	DEV	Cerebellar Diseases|Nervous System Malformations|Mental Retardation, X-Linked|Facial Asymmetry	X	Xq12	OPHN1	67179439	67570372		Zanni, G.  et al. 2005	16221952				Oligophrenin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002547.1			CDC GDPinfo	4983	Hs.128824			Neurology. 2005 Nov;65(9):1364-9	Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.		300127	18763	2	2005	 Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.											
132230		multiple myeloma	CANCER	CAN	Multiple Myeloma	12	12q24	P2RX7	120055060	120108241			16321858	1513 A-->C			Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDPinfo	5027	Hs.507102			Leukemia & lymphoma. 2006 Feb;47(2):281-4	The P2X7 receptor gene polymorphism 1513 A-->C has no effect on clinical prognostic markers and survival in multiple myeloma		602566	13043	2	2006												
132225		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Chromosome Aberrations	12	12q24	P2RX7	120055060	120108241		Zhang, L. Y.  et al. 2003	12931211				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDPinfo	5027	Hs.507102			Leukemia. 2003 Nov;17(11):2097-100	P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence,survival and abnormalities of chromosome 12		602566	13038	2	2003	We conclude that  the influence, if any, of P2X7 genotype on susceptibility to CLL or clinical outcome is small.	Case:144 patients with chronic lymphocytic leukemia;Control:348 healthy controls										
132318	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Bertoli-Avella, A. M.  et al. 2004	15584030				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDPinfo	5071	Hs.132954			Movement disorders. 2005 Apr;20(4):424-31	Novel parkin mutations detected in patients with early-onset Parkinson's disease.		602544	18829	2	2004	The patients with parkin mutations showed significantly earlier onset, longer disease duration, more frequently symmetric onset, and slower disease progression than the patients without mutations, in agreement with previous studies. This study confirms the frequent involvement of parkin and the importance of genetic testing in the diagnostic work-up of EOP.	Cohort 46 early-onset Parkinson's disease patients 										
132302	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q25.2-q27	PARK2	161689661	163068790		Hilker R et al. 2001	11261512				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			KGB	5071	Hs.132954			Annals of neurology. 2001 Mar;49(3):367-76	Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.		602544	4889	1	2001	In asymptomatic carriers of a single parkin mutation with an apparently normal allele, we found a mild but statistically significant decrease of mean FDOPA uptake compared to control subjects in all striatal regions.											
132299	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Peng R et al. 2003	12584415				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		China	KGB	5071	Hs.132954			European neurology. 2003 ;49(2):85-9	Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China.		602544	4886	1	2003	In summary, homozygous deletion mutations and point mutations in exons 1-12 of the Parkin gene were not detected in this Han Chinese population, although we cannot exclude compound heterozygous deletions. In addition, our study suggests that the variant 167Asn increases the risk of developing PD.	Case:116 sporadic Parkinson's disease patients South-west China;Control:124 controls matched for age and gender										
132294	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	6	6q25.2-q27	PARK2	161689661	163068790		Terreni L et al. 2001	11222788				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		Italy	KGB	5071	Hs.132954			Neurology. 2001 Feb;56(4):463-6	New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.		602544	4881	1	2001	 These findings confirm the recessive character of parkin mutations causing early-onset parkinsonism and the essential role of the ubiquitinlike region, highly conserved among species, and in accordance with the proposed parkin function.											
132426	Y	diabetes, type 1	IMMUNE	IMM	Lupus Erythematosus, Systemic|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Nielsen, C.  et al. 2003	14617032					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDPinfo	29126	Hs.158297			Tissue antigens. 2003 Dec;62(6):492-7	Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes.		600244	9309	2	2003	The associated allele is previously shown to alter a transcription factor-binding site (RUNX1/AML1), and the results of this study suggest that this allele could act as an additional susceptibility allele to type 1 diabetes.	Control:155 control subjects;Case:94 children and adolescents with type 1 diabetes diagnosed before their eighteenth birthday										
132423	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Kong, E. K.  et al. 2005	15818672				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Chinese	China|Hong Kong	CDC GDPinfo	5133	Hs.158297			Arthritis and rheumatism. 2005 Apr;52(4):1058-62	A new haplotype of PDCD1 is associated with rheumatoid arthritis in Hong Kong Chinese.		600244	18864	2	2005	 Our results support the involvement of PDCD1 as a susceptibility gene for RA in the Chinese population.	Case:180 Chinese patients with rheumatoid arthritis Hong Kong;Control:647 healthy controls										
132412	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Lin SC 2004	15022318				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			Y Wang	5133	Hs.158297			Arthritis and rheumatism. 2004 Mar;50(3):770-5	Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus.		600244	4910	1	2004	 The PD-1 gene is significantly associated with RA susceptibility, suggesting the possibility that PD-1 may contribute to the pathogenesis of RA.	Control sex-matched control subjects for each disease group;Case:98/84 systemic lupus erythematosus (n=98) and rheumatoid:arthritis (n=84) patients										
132502		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq13	PGK1	77246424	77268980		Riley, D. E.  et al. 2001	11745195				Phosphoglycerate kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000291.2			CDC GDPinfo	5230	Hs.78771			Cancer. 2001 Nov;92(10):2603-8	Short tandem repeat polymorphism linkage to the androgen receptor gene in prostate carcinoma.		311800	13101	2	2001	 Our findings suggest that STRs in the Xq11-Xq13 region and other regions may provide a means to rapidly scan genetic loci in large populations of CaP patients and controls. Within limitations, STRs offer the advantage of relatively uniform protocols that could potentially provide a means to comprehensively scan genomes at known predisposing loci.	Case:102 localized prostrate cancer patients;Control:299 control subjects not otherwise specified in:abstract										
132598		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic	4	4q21-q23	PKD2	89147843	89217953		Stekrova, J.  et al. 2004	14993477				Polycystic kidney disease 2 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000297.2	Czech	Czech Republic	CDC GDPinfo	5311	Hs.181272			Nephrology, dialysis, transplantation. 2004 May;19(5):1116-22	PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.		173910	18918	2	2004	 In this study in the Czech population we identified 22 mutations (six of which were new mutations). The prevalence of PKD2 cases was 18-20% and the mean age of ESRF was 68.3 years. An at-least weak hot spot in exon 1 of the PKD2 gene was found.	Cohort 115 Check autosomal dominant polycystic kidney disease patients 										
133146	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p36.33-p36.2	PRKCZ	1971768	2106694		Li YF 2003	12970910				Protein kinase C, zeta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002744.4	Han population of North China	China	KGB	5590	Hs.496255			World journal of gastroenterology. 2003 Sep;9(9):2078-82	Protein kinase C/zeta (PRKCZ) gene is associated with type 2 diabetes in Han population of North China and analysis of its haplotypes.		176982	5121	1	2003	 PRKCZ gene may be associated with type 2 diabetes in Han population in North China. The haplotypes at five SNP sites in this gene may be responsible for this association.											
133357	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	PSORS1C1	31190601	31215816		Rahman, P.  et al. 2005	15708881				Psoriasis susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014068.1	Canadian	Newfoundland|Ontario	CDC GDPinfo	170679	Hs.310958			Annals of the rheumatic diseases. 2005 Sep;64(9):1370-2	Association of SEEK1 and psoriatic arthritis in two distinct Canadian populations.			19127	2	2005	 SEEK1 is associated with PsA in the Newfoundland founder population. This association is probably due to linkage disequilibrium between SEEK1 and HLA-Cw*0602 in this population.	Control:100:controls:Ontario;Case:103 psoriatic arthritis patients:Newfoundland;Control:105 ethnically matched controls:Newfoundland;Case:200 psoriatic arthritis patients:Ontario										
133452	Y	hepatocellular carcinoma	CANCER	CAN	Hepatitis B|Carcinoma, Hepatocellular|Liver Neoplasms|Chromosome Aberrations	8	8q24-qter	PTK2	141737682	142080514		Okamoto H 2003	14578863				PTK2 protein tyrosine kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153831.2			KGB	5747	Hs.395482			Hepatology (Baltimore, Md). 2003 Nov;38(5):1242-9	PTK2 and EIF3S3 genes may be amplification targets at 8q23-q24 and are associated with large hepatocellular carcinomas.		600758	5224	1	2003												
133476		susceptibility to Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	4	4q21.3	PTPN13	87734908	87955326		Kantarci OH 2004	14698859				Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080683.1			KGB	5783	Hs.436142			Journal of neuroimmunology. 2004 Jan;146(2-Jan):162-70	CD95 polymorphisms are associated with susceptibility to MS in women. A population-based study of CD95 and CD95L in MS.		600267	5230	1	2004												
133799		tropical pulmonary eosinophilia	UNKNOWN	UNK	Filariasis|Pulmonary Eosinophilia	14	14q24-q31	RNASE2	20429401	20494434		Kim, Y. J.  et al. 2005	16014847				Ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002934.2		United States|India	CDC GDPinfo	6036	Hs.728			The American journal of tropical medicine and hygiene. 2005 Jul;73(1):125-30	Genetic polymorphisms of eosinophil-derived neurotoxin and eosinophil cationic protein in tropical pulmonary eosinophilia.		131410	13514	2	2005												
133986		renal cell carcinoma	CANCER	CAN	Paraganglioma|Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	1	1p36.1-p35	SDHB	17217811	17253252		Vanharanta S 2004	14685938				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			KGB	6390	Hs.465924			American journal of human genetics. 2004 Jan;74(1):153-9	Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.		185470	5370	1	2004												
141780	Y	bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Weber, B.  et al. 2000	11105614				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3		Germany	CDC GDPinfo	6435	Hs.523084			The Turkish journal of pediatrics. 2000 Jul-Sep;42(3):181-5	Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants		178630	13716	2	2000	In addition to previously established risk factors for BPD, 6A6 polymorphism for SP-A1 gene is an independent co-factor. We believe treatment of neonatal RDS should also include stratification according to genetic risk factors.	Case Caucasian preterm infants below 32 weeks of gestation with BPD;Control matched for the degree of immaturity and the year of birth										
141786		otitis media	OTHER	OTH	Otitis Media|Genetic Predisposition to Disease|Recurrence	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Ramet, M.  et al. 2001	11174628				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			The Journal of pediatrics. 2001 Feb;138(2):266-8	Surfactant protein-A gene locus associated with recurrent otitis media.		178630	19421	2	2001	We report that the frequency of specific surfactant protein-A haplotypes and genotypes differs between children with recurrent otitis media compared with a control population.	Case children with recurrent otitis media;Control:cont										
141789		tuberculosis	INFECTION	INF	Tuberculosis|Disease Progression|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Malik, S.  et al. 2005	16292672				Surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDPinfo	6435	Hs.523084			Human genetics. 2006 Feb;118(6):752-9	Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.		178630	19425	2	2005												
134400		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Rova, M.  et al. 2004	15102713				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			Human molecular genetics. 2004 Jun;13(11):1095-104	Data mining and multiparameter analysis of lung surfactant protein genes in bronchopulmonary dysplasia		178642	23413	2	2004	We propose that two separate SP-B gene polymorphisms have a phenotypic significance via	Case preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks with bronchopulmonary dysplasia;Control preterm Finnish infants in a high-risk population with gestational age >/= 32 weeks without bronchopulmonary dysplasia										
134398		tuberculosis	INFECTION	INF	Tuberculosis|Disease Progression|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Malik, S.  et al. 2005	16292672				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDPinfo	6436	Hs.535295			Human genetics. 2006 Feb;118(6):752-9	Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia.		178642	23411	2	2005												
134392		respiratory distress syndrome	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Diseases in Twins	10	10q22-q23	SFTPA2	80985663	80990156		Marttila R 2003	12947025				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			KGB	6436	Hs.535295			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1216-22	Surfactant protein A and B genetic variants in respiratory distress syndrome in singletons and twins.		178642	5386	1	2003												
134461		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	17	17p11.2	SHMT1	18171911	18207581		Zhang, Z.  et al. 2005	16006999				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDPinfo	6470	Hs.513987			Pharmacogenetics and genomics. 2005 Aug;15(8):557-64	Polymorphisms and haplotypes of serine hydroxymethyltransferase and risk of squamous cell carcinoma of the head and neck: a case-controlanalysis.		182144	13734	2	2005			alcohol smoking (tobacco)									
134563		hyperuricemia; uric acid	METABOLIC	MET		6	6q26	SLC22A2	160512082	160599949		Fukushima-Uesaka, H.  et al. 2004	15499192				Solute carrier family 22 (organic cation transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003058.2			CDC GDPinfo	6582	Hs.436385			Drug metabolism and pharmacokinetics. 2004 Jun;19(3):239-44	Fourteen novel single nucleotide polymorphisms in the SLC22A2 gene encoding human organic cation transporter (OCT2).		602608	13762	2	2004	The frequencies were 0.802 for IVS5-84_-83insG, 0.013 for 602C>T, 0.009 for 596C>T, and 0.004 for the other 11 variations. Among them, 596C>T and 602C>T resulted in amino acid substitutions (Thr199Ile and Thr201Met, respectively).	Cohort 116 Japanese individuals 										
141816		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Muscular Atrophy, Spinal|Disease Progression|Genetic Predisposition to Disease|Nerve Degeneration	5	5q13	SMN2	69381105	69410105		Veldink, J. H.  et al. 2005	16093455				Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			CDC GDPinfo	6607	Hs.202179			Neurology. 2005 Sep;65(6):820-5	SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.		601627	23510	2	2005	 SMN genotypes producing less SMN protein increase susceptibility to and severity of ALS.											
135255	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q23.2-q23.3	SNCG	88708392	88712995		Kruger, R.  et al. 2001	11585599				Synuclein, gamma (breast cancer-specific protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003087.1		Germany	CDC GDPinfo	6623	Hs.349470			Neuroscience letters. 2001 Sep;310(3-Feb):191-3	Evaluation of the gamma-synuclein gene in German Parkinson's disease patients.		602998	19647	2	2001	No significant differences in the allelic or genotypic distributions of the investigated polymorphisms were observed between patients and controls. In addition no evidence for an increased risk of combined genotypes of polymorphisms in the gamma-synuclein and the alpha-synuclein gene was found. Therefore, our results do not support a major role of the gamma-synuclein gene in PD.	Control:179 health controls:Germany;Case:262 Parkinson's disease patients:Germany										
135318		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Allergic Contact|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Brans, R.  et al. 2005	15951095				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDPinfo	6648	Hs.487046			Toxicology. 2005 Sep;212(3-Feb):148-54	MnSOD polymorphisms in sensitized patients with delayed-type hypersensitivity reactions to the chemical allergen para-phenylene diamine: acase-control study.		147460	14045	2	2005												
135294		neuropathy, diabetic	NEUROLOGICAL	NEUR		6	6q25.3	SOD2	160020138	160034343		Chistyakov, D. A.  et al. 2001	11299047				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Russian		CDC GDPinfo	6648	Hs.487046			BMC medical genetics [electronic resource]. 2001 ;2:4	Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus.		147460	14000	2	2001	 Ala(-9)Val substitution in the Mn-SOD gene was associated with DN in a Russian population	Case:82 type 1 diabetic patients with diabetic nephropathy;Control:84 type 1 diabetic patients without diabetic:nephropathy										
141824		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17p11.2	SREBF1	17656110	17681050		Spell, C.  et al. 2004	15286454				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDPinfo	6720	Hs.592123			Dementia and geriatric cognitive disorders. 2004 ;18(4-Mar):245-9	SREBP-1a polymorphism influences the risk of Alzheimer's disease in carriers of the ApoE4 allele.		184756	23556	2	2004	This is the first report on a genetic factor which prevents the deleterious effect of the ApoE4 allele and thus reduces the risk of AD.	Cohort Alzheimer's disease cases 										
135822		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Cox RD 1999	10027593				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Great Britain	Y Wang	6927	Hs.567343	MODY		Diabetologia. 1999 Jan;42(1):120-1	UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective diabetes study.		142410	5735	1	1999												
135919	N	thrombosis, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	2	2q31-q32.1	TFPI	188037202	188127464		Hessner, M. J.  et al. 2000	11057878				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4	Caucasian		CDC GDPinfo	7035	Hs.516578			Thrombosis and haemostasis. 2000 Oct;84(4):724-5	The C536T transition in the tissue factor pathway inhibitor (TFPI) gene does not contribute to risk of venous thrombosis among carriers of factor V Leiden.		152310	23618	2	2000	A synergistic relationship between FVL and the TFPI 536C genotype was not observed in that the frequency between symptomatic and asymptomatic FVL carriers was not significantly different, nor was there a significant difference, collectively, between this group of Caucasian thrombotic individuals and asymptomatic individuals regardless of FVL status.	Cohort 482 unrelated individuals with a first or recurrent diagnosed venous thromboembolic event (FVL carriers n=225, and FVL-negative n=257) 										
135935		leukemia; hemochromatosis; iron metabolism	CANCER	CAN	Leukemia|Lymphoma|Hemochromatosis|Iron Overload	3	3q29	TFRC	197260746	197293358		Dorak, M. T.  et al. 2002	12002748				Transferrin receptor (p90, CD71)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003234.1			CDC GDPinfo	7037	Hs.529618			Leukemia & lymphoma. 2002 Mar;43(3):467-77	Hemochromatosis gene in leukemia and lymphoma.		190010	25629	2	2002	Review article											
136220		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	20	20p12-cen	THBD	22974269	22978301		Heit, J. A.  et al. 2005	15842356				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Journal of thrombosis and haemostasis. 2005 Apr;3(4):710-7	Thrombomodulin gene polymorphisms or haplotypes as potential risk factors for venous thromboembolism:a population-based case-control study.		188040	14247	2	2005	We conclude that  polymorphisms or haplotypes within the TM gene are not common risk factors for incident VTE.	Case:223 Olmsted County, MN residents with a first lifetime, objectively confirmed venous thromboembolism in the 25-year period, 1966-90:Minnesota, US;Control:237 Olmsted County residents without venous:thromboembolism										
136212		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Wu, K. K.  et al. 2001	11245641	Ala455Val			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDPinfo	7056	Hs.2030			Circulation. 2001 Mar;103(10):1386-9	Thrombomodulin Ala455Val Polymorphism and Risk of Coronary Heart Disease		188040	14239	2	2001	 The TM A455V polymorphism predicts risk of developing CHD in blacks.	Case:376 CHD cases;Control:461 unspecified controls										
136310		filiariasis	INFECTION	INF	Elephantiasis, Filarial|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Hise, A. G.  et al. 2003	14551607				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDPinfo	7097	Hs.519033			Genes and immunity. 2003 Oct;4(7):524-7	Polymorphisms of innate immunity genes and susceptibility to lymphatic filariasis		603028	23655	2	2003	These results indicate that a CHIT1 genotype associated previously with susceptibility to filariasis in residents of southern India and TLR2 and TLR4 polymorphisms do not correlate with infection status or disease phenotype in this Melanesian population.	Cohort 906 residents of an area of Papua New Guinea where bancroftian filariasis is endemic Papua New Guinea 										
136305	N	asthma	IMMUNE	IMM	Asthma	4	4q32	TLR2	154824890	154846692		Noguchi, E.  et al. 2004	14987294				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Japanese	Japan	CDC GDPinfo	7097	Hs.519033			Clinical and experimental allergy. 2004 Feb;34(2):177-83	An association study of asthma and total serum immunoglobin E levels for Toll-like receptor polymorphisms in a Japanese population		603028	14297	2	2004	 Our results indicate that polymorphisms in TLRs are not likely to be associated with the development of atopy-related phenotypes in a Japanese population.	Cohort 32 asthmatics Japan 										
136298	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Ben-Ali, M.  et al. 2004	15138193	Arg677Trp			Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Tunisian	Tunisia	CDC GDPinfo	7097	Hs.519033			Clinical and diagnostic laboratory immunology. 2004 May;11(3):625-6	Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients.		603028	14271	2	2004	This finding suggests that this polymorphism could be a risk factor for tuberculosis.	Case tuberculosis patients:Tunisia;Control healthy controls										
136952		bone density	METABOLIC	MET	Body Weight	8	8q24	TNFRSF11B	120004976	120033492		Wynne, F.  et al. 2002	12073153				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Irish	Ireland	CDC GDPinfo	4982	Hs.81791			Calcified tissue international. 2002 Jul;71(1):26-35	Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population.		602643	23740	2	2002	We found no association between alleles of the T950C OPG polymorphism and BMD. Similarly, we have found a lack of association between the VDR (fok1) polymorphism or COLIA1 Sp1 polymorphism and low BMD in either postmenopausal or premenopausal women in this population.	Cohort 130 premenopausal women aged 46.30 6.50 (mean SD) Ireland Cohort 381 postmenopausal women aged 61.26 8.50 (mean SD) Ireland 										
137321	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Li, G.  et al. 2004	15180941				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDPinfo	7161	Hs.192132			Carcinogenesis. 2004 Oct;25(10):1911-6	Association of a p73 exon 2 G4C14-to-A4T14 polymorphism with risk of squamous cell carcinoma of the head and neck.		601990	14462	2	2004	Our results suggest that this p73 polymorphism may be a risk marker for genetic susceptibility to SCCHN.	Control:1,229 cancer-free controls;Case:708 patients newly diagnosed with squamous cell carcinoma of the head and neck										
137544		craniosynostosis	OTHER	OTH	Craniosynostoses	7	7p21.2	TWIST1	19121615	19123820		Zeiger, J. S.  et al. 2002	12218784				Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000474.3			CDC GDPinfo	7291	Hs.66744			The Journal of craniofacial surgery. 2002 Sep;13(5):602-6	Genetic and environmental risk factors for sagittal craniosynostosis.		601622	20045	2	2002	These findings suggest that whereas TWIST and the genes are important for syndromic craniosynostosis, they are unlikely to be involved in isolated sagittal craniosynostosis. Parental education and alcohol consumption were associated with sagittal craniosynostosis in this study.	Control:182 infants born in Maryland without any known birth:defects;Case:42 cases of sagittal craniosynostosis ascertained from craniofacial clinics in the Baltimore-Washington metropolitan region.	alcohol, maternal smoking (tobacco), maternal vitamin usage, maternal									
138329		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.41	ZNF350	57159404	57181891		Sigurdson, A. J.  et al. 2004	15113441				Zinc finger protein 350	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021632.3			CDC GDPinfo	59348	Hs.407694			BMC cancer [electronic resource]. 2004 Mar;4:9	Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.		605422	27684	2	2004	 Some variants in genes within the base-excision repair pathway (XRCC1) and BRCA1 interacting proteins (BRIP1) may play a role as low penetrance breast cancer risk alleles. Previous association studies of breast cancer and BRCA2 N372H and functional observations for APEX D148E ran counter to our findings of decreased risks. Due to the many comparisons, cautious interpretation and replication of these relationships are warranted.	Cohort 748 breast cancer cases identified within a cohort of femal US radiologic technologists and 2,430 female first-degree relatives of cases 										
124187		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p21.3	GPX1	49369612	49370795		Knight JA 2004	14744747				glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	caucasian	Ontario	KGB	2876	Hs.76686			Cancer epidemiology, biomarkers & prevention. 2004 Jan;13(1):146-9	Genetic variants of GPX1 and SOD2 and breast cancer risk at the Ontario site of the Breast Cancer Family Registry.		138320	2922	1	2004	There is a significant trend of increasing risk with increasing number of alleles with four GCG repeats (P = 0.03). This variant has not previously been reported to be associated with breast cancer.	Control:372:controls;Case:399 breast cancer cases										
123067		Sjogren's syndrome, primary	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Bolstad, A. I.  et al. 2000	11036836				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		Norway	CDC GDPinfo	355	Hs.244139			The Journal of rheumatology. 2000 Oct;27(10):2397-405	Fas and Fas ligand gene polymorphisms in primary Sjogren's syndrome.		134637	10548	2	2000	 We describe the positions and frequencies of several polymorphisms in the genes encoding Fas and FasL in patients with primary SS. None caused any amino acid change. Three Fas alleles, of which one is located in the promoter area, showed significant although modest differences between patients and controls.	Case:70 patients with primary Sjogren's syndrome;Control:72:controls										
136209	Y	acute myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20p12-cen	THBD	22974269	22978301		Ranjith N 2003	14523329	Ala455Val			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	young indian asian	India	KGB	7056	Hs.2030	smokers		Medical science monitor. 2003 Oct;9(10):CR417-21	Haemostatic gene polymorphisms in young indian asian subjects with acute myocardial infarction.		188040	5878	1	2003	 The Leiden Factor V and prothrombin 20210 GgA polymorphisms have no value in disease association studies in the Indian Asian population. In smokers, the thrombomodulin Ala455Val variant allele emerges as a significant risk factor for coronary heart disease.	Control:107/300 unaffected siblings (n=107) and unrelated healthy race-matched individuals drawn from the same:community (n=300);Case:195 Indian Asian patients with a myocardial infarction	smoking (tobacco)									
133445		spinal ossification	UNKNOWN	UNK	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	11	11p15.3-p15.1	PTH	13470176	13474143		Ogata, N.  et al. 2002	12195069				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2		Japan	CDC GDPinfo	5741	Hs.37045			Spine. 2002 Aug;27(16):1765-71	Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity		168450	26533	2	2002	 The contribution of genetic backgrounds is likely to be stronger in women than in men with ossification of the posterior longitudinal ligament of the spine. Estrogen receptor polymorphism was associated with both initiation and promotion of the disorder, but interleukin-1beta polymorphism was associated only with its initiation in women.	Case:120 patients (77 men and 43 women) with ossification of the posterior longitudinal ligament of the spine;Control:306 ontrol subjects without the disorder (166 men and 140 women)										
140697		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Neoplasms, Radiation-Induced|Genetic Predisposition to Disease	12	12p12.1	KRAS	25249446	25295130		Sadetzki, S.  et al. 2005	15824172				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2		Israel	CDC GDPinfo	3845	Hs.505033			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):969-76	Genotyping of patients with sporadic and radiation-associated meningiomas.		190070	27068	2	2005	Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations.	Control:129/92 individuals similarly irradiated but did not develop meningioma (n=129) and asymptomatic population controls (n=92);Case:150/69 meningioma patients who were irradiated for tinea capitis in childhood (n=150) and meningioma patients with no previous history of irradiation:(n=69)	radiation									
121917	Y	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	5	5q32	ECG2	147672182	147675674		Yue, C. M.  et al. 2004	14639608				Esophagus cancer-related gene-2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DA767808	Chinese	China	CDC GDPinfo	84651	Hs.244569			International journal of cancer. Journal international du cancer. 2004 Jan;108(2):232-6	Short tandem repeat polymorphism in a novel esophageal cancer-related gene (ECRG2) implicates susceptibility to esophageal cancer in Chinese population.			10229	2	2004	These findings indicate for the first time that the ECRG2 STR is a genetic susceptibility factor for ESCC and the TCA(3)/TCA(3) allele might play a role in the development of this cancer.	Case:228 Chinese patients with esophageal cancer Beijing and Linxian, China;Control:373 normal controls										
140930		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702	0.025	Relton CL 2004	15060097	677C-->T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Great Britain	KGB	4524	Hs.214142			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		607093	7387	1	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:530 individuals from families affected by NTD northern UK;Control:645/602 maternal controls (n=645) and healthy newborn:controls (n=602)										
119708	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Krokowski M et al. 1998	9690057				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF414120		Poland	KGB	1493	Hs.247824			Diabetes & metabolism. 1998 Jun;24(3):241-3	CTLA-4 gene polymorphism is associated with predisposition to IDDM in a population from central Poland.		123890	1458	1	1998												
118594	Y	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	3	3p21.3	CCR3	46180099	46283166	P<0.02	Fukunaga K 2001	11307756	T51C			Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Japanese. British	Japan|Great Britain	KCB	1232	Hs.506190			The European respiratory journal. 2001 Jan;17(1):59-63	Genetic polymorphisms of CC chemokine receptor 3 in Japanese and British asthmatics.		601268	1291	1	2001	In conclusion, a significant association between asthma and CCR3 T51C polymorphism localized on chromosome 3p21 was found.	Case:142 Caucasian asthmatic hospital patients:England;Case:142 Caucasian asthmatics:Britain;Control:181 healthy, Japanese volunteers without a history of asthma recruited from the same area:Japan;Control:181 nonasthmatic controls:Japan;Case:210 Asian ast										
118296	N	Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	21	21q22.3	CBS	43346369	43369493		Chango, A.  et al. 2005	16115349				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	French	France	CDC GDPinfo	875	Hs.533013			The British journal of nutrition. 2005 Aug;94(2):1	No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.		236200	12598	2	2005												
118019		hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	7	7p15	C7orf16	31693371	31714594		Ono, S.  et al. 2003	12955585			promoter	chromosome 7 open reading frame 16			Japan	CDC GDPinfo	10842	Hs.227011			Journal of human genetics. 2003 ;48(9):447-50	A promoter SNP (-1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia.		604088	17016	2	2003	These data suggest that genetic variation at the G-substrate gene may be one of the determinants for plasma lipoprotein levels.	Cohort 368 adult individuals east-central area of Japan 										
115482	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Hou R et al. 2000	11110979				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Chinese	China	KGB	118	Hs.183706			Zhonghua yi xue yi chuan xue za zhi. 2000 Dec;17(6):413-6	Is Gly460Trp variant of alpha-adducin associated with essential hypertension in the Hans of Chinese population		102680	117	1	2000	 A G-->T substitution at nucleotide 614 in exon 10 of alpha-adducin gene is found, but there is lack of the association between the variant of alpha-adducin gene and essential hypertension in the Hans of Chinese population.	Control:129 normotensive subjects;Case:183 Han Chinese patients with essential hypertension:China										
136813		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	6	6p21.3	TNF	31651328	31654091		Landi, S.  et al. 2003	12839942				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Spain	CDC GDPinfo	7124	Hs.241570			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		191160	27269	2	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
132603		polycystic kidney disease	RENAL	REN	Metabolism, Inborn Errors	1	1q21	PKLR	153526253	153537835		Manco, L.  et al. 2001	11459427				Pyruvate kinase, liver and RBC	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000298.4	Portuguese	Atlantic Islands|Portugal	CDC GDPinfo	5313	Hs.95990			Human biology; an international record of research. 2001 Jun;73(3):467-74	Population genetics of four PKLR intragenic polymorphisms in Portugal and S????o Tom???? e Pr????ncipe (Gulf of Guinea).		266200	13130	2	2001	The allele frequencies found in the Portuguese population are similar to those previously described in Caucasian populations. In Sao Tome e Principe the biallelic polymorphisms 1705A/C, 1738C/T, and T10/19 presented inverse allelic frequencies when compared with the Portuguese population.	Cohort not specified further in abstract Central Portugal and Sao Tome e Principe 										
132492	Y	sleep disorders	OTHER	OTH	Sleep Disorders, Circadian Rhythm	1	1p36.23	PER3	7766966	7827824		Pereira, D. S.  et al. 2005	15700718				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1		Brazil	CDC GDPinfo	8863	Hs.533339			Sleep. 2005 Jan;28(1):29-32	Association of the length polymorphism in the human Per3 gene with the delayed sleep-phase syndrome:does latitude have an influence upon it?		603427	13099	2	2005	 Our results suggest that latitude has a role in the influence of hPer3 gene polymorphism on delayed sleep-phase syndrome and confirm previous data showing its association with morningness-eveningness tendencies.	Control:156/110 volunteers chosen according to Horne-Ostberg questionnaire to have morning, intermediate, or evening preference (n=156) and volunteers with no Horne-Ostberg score as a sample of the general:population (n=110);Case:17 patients with delayed sleep-phase syndrome										
131472		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Buslov, K. G.  et al. 2005	15578693				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4		Russia	CDC GDPinfo	4683	Hs.492208			International journal of cancer. Journal international du cancer. 2005 Apr;114(4):585-9	NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.		602667	18530	2	2005	Overall, our data suggest that the NBS1 657del5 allele may contribute only to a limited fraction of breast cancer cases in Russia.	Case:173/700 bilateral (n=173) and unilateral (n=700) breast cancer cases:Russia;Control:348/344 healthy middle-aged females (n=348) and elderly tumor-free women (n=344)										
131076	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Miller DC 2003	12839931				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2		United States|Michigan	KGB	4481	Hs.632045			Cancer research. 2003 Jul;63(13):3486-9	Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men.		153622	4597	1	2003	Taken together, our results provide some additional support for the hypothesis that selected, rare MSR1 mutations are associated with increased prostate cancer susceptibility among African-American men.	Case:134 African-american men with prostate cancer;Control:340 unaffected controls										
130969	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	MS4A2	59612712	59622592	n	Ishizawa M 1999	10496073	E237G (Gly237Glu)			membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Japanese	Japan	KCB	2206	Hs.386748			Journal of human genetics. 1999 ;44(5):308-11			147138	2583	1	1999												
128610	Y	tuberculosis	INFECTION	INF	Tuberculosis|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Ma, X.  et al. 2003	12870115				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Texas	CDC GDPinfo	3576	Hs.624			The Journal of infectious diseases. 2003 Aug;188(3):349-55	Association between interleukin-8 gene alleles and human susceptibility to tuberculosis disease.		146930	11929	2	2003	These data suggest that IL-8 is important in the genetic control of human TB susceptibility.	Case white subjects with TB disease;Control:cont										
127209	Y	Cerebral Malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200	?	Koch O 2002	12023780				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	African	Gambia	KGB	3459	Hs.520414			The Journal of infectious diseases. 2002 Jun;185(11):1684-7	IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria.		107470	3414	1	2002	Further data are needed to validate this finding, but these results are reminiscent of those for other well-established heterozygote advantages, such as that associated with hemoglobin S.	Case:562 Gambian children with severe malaria:Gambia;Control:569 umbilical cord blood samples										
126933	N	diabetes, type 2	METABOLIC	MET	Pancreatic Diseases|Amyloidosis|Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Esapa, C.  et al. 2005	15878744			promoter	Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Finnish	Finland|England	CDC GDPinfo	3375	Hs.46835			Biochimica et biophysica acta. 2005 Apr;1740(1):74-8	Islet amyloid polypeptide gene promoter polymorphisms are not associated with Type 2 diabetes or with the severity of islet amyloidosis		147940	11516	2	2005	The IAPP-132G/A promoter polymorphism is not associated with T2DM, a requirement for insulin therapy or with the degree of islet amyloidosis in cohorts from the UK or Finland.	Case:102 type 2 diabetic subjects:Finland;Control:279 unrelated non-diabetic subjects:UK;Case:425 type 2 diabetics:UK;Control:80 nondiabetic subjects:Finland										
137110	Y	idiopathic torsion dystonia	OTHER	OTH	Dystonia Musculorum Deformans	9	9q34	TOR1A	131615041	131626262		Ozelius LJ et al. 1992	1347197				torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113		Europe, Eastern	KGB	1861	Hs.534312			American journal of human genetics. 1992 Mar;50(3)	Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.		605204	2320	1	1992												
137533	Y	familial amyloid polyneuropathy in a Hungarian family.	OTHER	OTH	Amyloid Neuropathies|Carpal Tunnel Syndrome|Cardiomyopathies	18	18q12.1	TTR	27425837	27432781		Zolyomi Z et al. 1998	9547003				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1		United States|Hungary	KGB	7276	Hs.427202			Amyloid. 1998 Mar;5(1):30-4	Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family.		176300	6303	1	1998												
137658	N	obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Halsall, D.  et al. 2001	11319649				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		Great Britain	CDC GDPinfo	7352	Hs.101337			International journal of obesity and related metabolic disorders. 2001 Apr;25(4):472-7	Uncoupling protein 3 genetic variants in human obesity: the c-55t promoter polymorphism isnegatively correlated with body mass index in a UK Caucasian population.		602044	20075	2	2001	 Mutations in the coding sequence of UCP3 are unlikely to be a common monogenic cause of severe human obesity. In a Caucasian population the UCP3 c-55t polymorphism is negatively associated with BMI.	Cohort 419 Caucasian adults from the Isle of Ely Study Britain Cohort 91 severely obese children Britain 										
138545	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p13	BDNF	27633017	27699872		Hong, C. J.  et al. 2003	14642442	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese	Taiwan	CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2003 Dec;353(1):75-7	Brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in Parkinson's disease and age of onset.		113505	8895	2	2003	Thus, our negative findings suggest that it is unlikely that the BDNF Val66Met polymorphism plays a major role in the pathogenesis of PD in the Chinese population. Other BDNF genetic variants, and the association of these variants with PD symptomatology or treatment response, may merit further investigation.	Control:controls;Case Chinese Parkinson's disease patients										
139589		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	20	20q13.2-q13.3	GNAS	56848189	56919645		Abe, M.  et al. 2002	12215464				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4		Japan	CDC GDPinfo	2778	Hs.125898			Hypertension. 2002 Sep;40(3):261-5	Association of GNAS1 gene variant with hypertension depending on smoking status.		139320	16963	2	2002	A significant interaction between the polymorphism and aging in the pathogenesis of hypertension was also shown in nonheavy smokers. These findings may be helpful in conducting further molecular and biological studies on the relationship among cigarette smoking, the beta-AR-G(s) protein system, and hypertension.	Cohort 2000+ Japanese individuals 	smoking (tobacco)									
140717	N	Obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410	n	Gotoda T 1997	9175732				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	British Caucasian	Great Britain	TJB	3953	Hs.23581			Human molecular genetics. 1997 Jun;6(6):869-76			601007	7279	1	1997												
141268	Y	Diabetic Retinopathy	RENAL	REN	Diabetic Retinopathy|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Taverna MJ 2002	11918626				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian	France	KGB	4846	Hs.511603			Diabetic medicine. 2002 Mar;19(3):240-5	eNOS4 polymorphism of the endothelial nitric oxide synthase predicts risk for severe diabetic retinopathy.		163729	7481	1	2002	 We demonstrate in Caucasians with Type 1 diabetes that (i) eNOS4a/a is associated with absent or non-severe DR, and (ii) eNOS4b/b is associated with severe DR.	Cohort 200 unrelated Caucasian type 1 diabetic patients of long duration, randomly selected (M/F 103/97, age 44.4 +/- 12.4 years, diabetes duration 27.7 +/- 10.0 years, body mass index 24.3 +/- 3.4 kg/m2, HbA1c 8.6 +/- 1.3%)										
141337	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies	7	7q36	NOS3	150319079	150342609		Lin, S.  et al. 2002	12138290			intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese	China	CDC GDPinfo	4846	Hs.511603			Nephron. 2002 Aug;91(4):768	Allele A in intron 4 of ecNOS gene will not increase the risk of diabetic nephropathy in type 2 diabetes of Chinese population.		163729	12765	2	2002	From the data listed above, we can see that (1) allele a is not a risk factor of DN in the Han people of Tianjin; (2) the frequency of allele a is lower in the Han people of Tianjin than that in Japanese (3) there are different roles of ecNOS-NO pathway in DN-induced CRF and non-DN CRF.	Case:48/35 type 2 diabetes patients without diabetic nephropathy (n=48) and with diabetic nephropathy:(n=35):Tianjin, China;Control:70 healthy volunteers										
142437		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DPB1	33151737	33162954		Yamasaki K et al. 1999	10468508	DPB1*0501				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Japan	KGB	3115	Hs.485130			Brain. 1999 Sep;122 ( Pt 9):1689-96	HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical neuroimaging and immunogenetic studies.		142858	7802	1	1999												
142884		mitochondrial disorders	MITOCHONDRIAL	MITO	Mitochondrial Diseases	M		MT-ATP6				Marotta, R.  et al. 2004	14748908						Australian	Australia	CDC GDPinfo					Internal medicine journal. 2004 Jan-Feb;34(2-Jan):9-Oct	Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.		516060	25273	2	2004	Overall, the detection rate of mtDNA point mutations was low. The protean clinical features of mitochondrial disorders and the frequency of partial phenotypes lead to requests for tests in many patients with a relatively low likelihood of mtDNA mutations. An improved algorithm could involve mutation screening appropriate to the phenotype using sequencing of selected mtDNA regions in patients with a high likelihood of mtDNA disease. Features increasing the likelihood of	Cohort 1,725 patients referred to the Melbourne Neuromuscular Research Institute 1990-2001 										
125136		stem cell transplantation outcome	UNKNOWN	UNK	Leukemia|Lymphoma|Anemia, Aplastic|Myelodysplastic Syndromes|Genetic Diseases, Inborn|Graft vs Host Disease|Recurrence	6	6p21.3	HLA-A	29963507	30085130		Morishima, Y.  et al. 2002	12010826				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Blood. 2002 Jun;99(11):4200-6	The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors.		142800	11040	2	2002	Thus, the role of the HLA class I allele in unrelated bone marrow transplantation was elucidated. Notably, HLA-C alleles had a different mode from HLA-A or -B alleles for acute GVHD and survival.	Cohort 1298 donor-patient pairs in cases where marrow was donated from serologically HLA-A, -B, and -DR compatible donors 										
125131		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Migot-Nabias, F.  et al. 2001	11294566				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Gabon	CDC GDPinfo	3105	Hs.181244			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		142800	11034	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
139484		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Barton, A.  et al. 2002	11981324				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDPinfo	2214	Hs.372679			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		146740	26864	2	2002	Review article											
124916	Y	hemochromatosis	METABOLIC	MET	Hemochromatosis	19	19q13.1	HAMP	40465249	40467885		Jacolot, S.  et al. 2003	14670915				Hepcidin antimicrobial peptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021175.2			CDC GDPinfo	57817	Hs.8821			Blood. 2004 Apr;103(7):2835-40	HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.		606464	17139	2	2003	Based on a digenic model of inheritance, these data suggest that the association of heterozygous mutations in the HFE and HAMP genes could lead, at least in some cases, to an adult-onset form of primary iron overload.	Cohort 392 C282Y homozygous hemochromatosis patients 		HAMP	pR59G or pG71D	HFE	pC282Y/pC282Y			Y	iron	Hereditary hemochromatosis
135928		iron levels	METABOLIC	MET	Leukemia, Lymphocytic, Acute|Hemochromatosis	7	7q22	TFR2	100055974	100078338		Veneri, D.  et al. 2005	15863206				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2			CDC GDPinfo	7036	Hs.544932			Leukemia research. 2005 Jun;29(6):661-4	Analysis of HFE and TFR2 gene mutations in patients with acute leukemia.		604720	23622	2	2005	Our study does not support the evidence of an association between hemochromatosis gene mutations and iron overload in AL patients.	Cohort 82 adult patients with acute leukemia 										
125010	N	heart anomalies, congenital	CARDIOVASCULAR	CARD	Tricuspid Atresia	6	6q22.2-q22.33	HEY2	126112424	126124108		Sarkozy, A.  et al. 2005	15643620				Hairy/enhancer-of-split related with YRPW motif 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012259.2			CDC GDPinfo	23493	Hs.144287			American journal of medical genetics Part A. 2005 Feb;133(1):68-70	ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.		604674	17126	2	2005	No pathogenetic mutation has been identified, thus failing to demonstrate a major role of ZFPM2/FOG2 and HEY2 genes in the pathogenesis of human TriAt.	Cohort 40 individuals affected by nonsyndromic tricuspid atresia 										
124970	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	17	17q21	HCRT	37589603	37590996		Gencik M et al. 2001	11148249				Hypocretin (orexin) neuropeptide precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001524.1			KGB	3060	Hs.158348			Neurology. 2001 Jan;56(1):115-7	A prepro-orexin gene polymorphism is associated with narcolepsy.		602358	3060	1	2001												
124923		asthma; rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	5	5q33.3	HAVCR2	156445420	156468716		Chae, S. C.  et al. 2004	15603868				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3	Korean	Korea	CDC GDPinfo	84868	Hs.616365			Human immunology. 2004 Dec;65(12):1427-31	The association of TIM-3 gene polymorphism with atopic disease in Korean population.		606652	11004	2	2004	Our results strongly suggest that the -574T > G polymorphism of Tim-3 might be associated with the susceptibility of atopic diseases such as asthma and allergic rhinitis.	Control nonatopic controls;Case asthma and allergic rhinitis patients										
124536		lymphoma; Hodgkin's disease	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Soucek, P.  et al. 2002	12397416				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			International archives of occupational and environmental health. 2002 Oct;75 Suppl:S86-92	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		138350	26049	2	2002	 The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development and progression of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL)cont;Control:455 age- and gender-matched healthy individuals.										
120499		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Tuominen, R.  et al. 2002	11967624				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		108330	17039	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
124470	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Hung, R. J.  et al. 2004	15122594				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):598-604	GST, NAT, SULT1A1, CYP1B1 genetic polymorphisms, interactions with environmental exposures and bladder cancer risk in a high-risk population.		138350	21589	2	2004	These findings suggest that individual susceptibility to bladder cancer may be modulated by GSTM1, GSTT1 and NAT2 polymorphisms.	Case:201 hospital-based incident cases of bladder cancer Brescia, Northern Italy;Control:214:controls	aromatic amines polycyclic aromatic hydrocarbons smoking (tobacco)									
121112	Y	aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic|DNA Damage	10	10q24.3-qter	CYP2E1	135190856	135224714		Dirksen, U.  et al. 2003	14681495				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Pediatric research. 2004 Mar;55(3):466-71	Glutathione S transferase theta 1 gene (GSTT1) null genotype is associated with an increased risk for acquired aplastic anemia in children.		124040	16515	2	2003	In no combinations of the mentioned parameters was an association found with acquired aplastic anemia. GST are mainly involved in metabolizing hematotoxic and mutagenic substrates such as benzene derivatives. The GSTT1 null genotype may modulate the metabolism of exogenous pollutants or toxic intermediates. The absence of the GSTT1 enzyme, leading to genetic susceptibility toward certain pollutants, might determine the individual risk for development of acquired aplastic anemia in children.	Control:controls;Case individuals with acquired aplastic anemia		GSTT123	null					Y		"aplastic anemia, acquired"
127357	Y	increased development of adult T-cell leukemia/lymphoma	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Tsukasaki K et al. 2001	11325850				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		124092	3807	1	2001												
138949		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Cheng, T. C.  et al. 2004	15455371				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Taiwan	CDC GDPinfo	1312	Hs.370408			International journal of cancer. Journal international du cancer. 2005 Jan;113(3):345-53	Breast cancer risk associated with genotype polymorphism of the catechol estrogen-metabolizing genes: a multigenic study on cancer susceptibility.		116790	14030	2	2004	Based on comprehensive CE metabolizing gene profiles, our study provides support to the hypotheses that breast cancer can be initiated by estrogen exposure and that increased estrogen exposure confers a higher risk of breast cancer by causing DSB to DNA.	Case:469 incident breast cancer patients;Control:740 healthy controls	menarche pregnancy									
124407	Y	cytogenetic studies	OTHER	OTH	Chromosome Aberrations	1	1p13.3	GSTM1	110031964	110037890		Tuimala, J.  et al. 2004	15450429				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2004 Oct;554(2-Jan):319-33	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: effects on levelsof sister chromatid exchanges and chromosomal aberrations		138350	12658	2	2004	Our results are in line with earlier findings on the influence of NAT2, GSTT1, and GSTM1 polymorphisms on the level of lymphocyte chromosome damage and suggest that also XRCC1 polymorphism affects CA frequencies, thus apparently influencing DNA repair phenotype. It remains to be examined whether these or other genetic polymorphisms could explain the observed cancer risk predictivity of high CA frequency.	Cohort 145/6 peripheral lymphocytes of 145 (CAs) and 60 (SCEs) healthy Caucasians 										
124730		smoking	CANCER	CAN	Lung Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Ruano-Ravina A 2003	14666648				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			KGB	2952	Hs.268573			Anticancer research. 2003 Sep-Oct;23(5b):4333-7	GSTM1 and GSTT1 polymorphisms, tobacco and risk of lung cancer: a case-control study from Galicia~~~ Spain.		600436	3037	1	2003	 The absence of the GSTM1 gene is, while that of the GSTT1 gene is seemingly not, implicated in susceptibility to lung cancer.											
124618	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Miller DP et al. 2003	12640684				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2003 May;104(6):758-63	Association between self-reported environmental tobacco smoke exposure and lung cancer: modification by GSTP1 polymorphism.		134660	3026	1	2003												
124614	Y	metastatic colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Neoplasm Metastasis	11	11q13	GSTP1	67107861	67110699		Stoehlmacher J et al. 2002	12072547				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		California	KGB	2950	Hs.523836			Journal of the National Cancer Institute. 2002 Jun;94(12):936-42	Association between glutathione S-transferase P1 T1 and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer.		134660	3022	1	2002	 The GSTP1 Ile(105)Val polymorphism is associated in a dose-dependent fashion with increased survival of patients with advanced colorectal cancer receiving 5-FU/oxaliplatin chemotherapy.											
130026	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	12	12q22	LTA4H	94918741	94953496	n	Hakonarson H 2001	11739132	Leu241Leu. G102T			Leukotriene A4 hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000895.1	Icelandic	Iceland	KCB	4048	Hs.524648			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			151570	4350	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128586	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	3	3p26-p24	IL5RA	3086420	3127031	n	Hakonarson H 2001	11739132	G-80A			Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2	Icelandic	Iceland	KCB	3568	Hs.68876			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147851	3760	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128527	N	Atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Hakonarson H 2001	11739132	S503P			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Icelandic	Iceland	KGB	3566	Hs.513457			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147781	3751	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
128294	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL3	131424245	131426795	n	Hakonarson H 2001	11739132	C79T (Pro27Ser)			Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Icelandic	Iceland	KCB	3562	Hs.694			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			147740	3609	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
124591	Y	stroke; dementia	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Kolsch, H.  et al. 2004	15623683				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1		Germany	CDC GDPinfo	9446	Hs.190028			Neurology. 2004 Dec;63(12):2255-60	Polymorphisms in glutathione S-transferase omega-1 and AD, vascular dementia, and stroke.		605482	10935	2	2004	 The GSTO1 Asp allele may be a genetic risk factor for cerebrovascular diseases, and might influence the course of Alzheimer disease, even though effects vary in different studies.	Cohort 										
124312		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q13.3	GSK3B	121028235	121295203		Cacabelos, R.   2002	12452480				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDPinfo	2932	Hs.445733			Annals of medicine. 2002 ;34(5):357-79	Pharmacogenomics for the treatment of dementia.		605004	27722	2	2002	Review article											
116390		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	7	7p15	AHR	17304831	17352299		Esfandiary, H.  et al. 2005	15774926				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDPinfo	196	Hs.171189			The British journal of ophthalmology. 2005 Apr;89(4):470-4	Association study of detoxification genes in age related macular degeneration		600253	16021	2	2005	 This study has identified a number of genes requiring further investigation including EPHX1, ADPRT1, CYP2D6, and AhR.											
128201		coronary disease	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Myocardial Infarction|Thrombosis|Recurrence|Hemorrhage	2	2q14.2	IL1RN	113573407	113608064		Shields, D. C.  et al. 2002	12082590				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			The pharmacogenomics journal. 2002 ;2(3):182-90	The contribution of genetic factors to thrombotic and bleeding outcomes in coronary patients randomised to IIb/IIIa antagonists.		147679	24984	2	2002	Thus, genetic polymorphisms may be associated with subsequent myocardial infarction, and may also be associated with treatment-associated bleeding among coronary patients.	Cohort 924 Caucasians with acute coronary syndromes participating in the OPUS-TIMI16 trial 										
121965		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	4	4q31.22-q31.23	EDNRA	148621579	148685555		Zee, R. Y.  et al. 2002	12082592				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		131243	28459	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
121953		retinopathy, diabetic	UNKNOWN	UNK	Diabetic Retinopathy|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Warpeha, K. M.  et al. 2003	12724690				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Eye (London, England). 2003 Apr;17(3):305-11	Molecular genetics of microvascular disease in diabetic retinopathy.		131240	27412	2	2003	Review article											
141552		kidney transplant complications	IMMUNE	IMM	Arteriosclerosis	7	7q36	NOS3	150319079	150342609		Viklicky, O.  et al. 2002	12424427				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Kidney & blood pressure research. 2002 ;25(4):245-9	G-protein beta-3-subunit and eNOS gene polymorphism in transplant recipients with long-term renal graft function.		163729	23148	2	2002	 Our data suggest that these gene polymorphisms have only a minor influence on long-term renal graft function.	Case patients with kidney grafts;Control transplant recipients										
135984	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	n	Hirashiki A 2003	14563588	869T3C (Leu10Pro)			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese	Japan	KGB	7040	Hs.155218			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		190180	5807	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
127387	N	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462	n	Hirashiki A 2003	14563588	592A3C			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Japanese	Japan	KGB	3586	Hs.193717			Journal of the American College of Cardiology. 2003 Oct;42(8):1429-37	Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.		124092	3837	1	2003	 Genotyping of these polymorphisms may prove informative for assessment of the genetic risk of CAD in low- or high-risk men or women.											
120055		hepatitis C; liver cancer	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	5	5q31	CXCL14	134934273	134942868		Kato, N.  et al. 2005	16175604				Chemokine (C-X-C motif) ligand 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004887.3		Japan	CDC GDPinfo	9547	Hs.483444			Hepatology (Baltimore, Md). 2005 Oct;42(4):846-53	Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C.		604186	20881	2	2005												
123870	Y	insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	7	7p15.3-p15.1	GCK	44150394	44195563		Chiu, K. C.  et al. 2000	11112984			promoter	Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Indian	India	CDC GDPinfo	2645	Hs.1270			BMC genetics [electronic resource]. 2000 ;1:2	Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians.		138079	10797	2	2000	 These data suggest that the G-to-A polymorphism in the hepatic GCK promoter is associated with hepatic insulin resistance in Asian Indians.	Cohort 63 normotensive Asian Indians with normal glucose tolerance 										
142732	Y	proximal chromosome 9p to q and distal chromosome 9q	CANCER	CAN	Carcinoma, Transitional Cell|Bladder Neoplasms|Chromosome Deletion|	9	9q22.3	PTCH	97246218	97310652		Simoneau AR et al. 1996	8895761				Patched homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000264.2			KGB	5727	Hs.494538			Cancer research. 1996 Nov;56(21):5039-43	Evidence for two tumor suppressor loci associated with proximal chromosome 9p to q and distal chromosome 9q in bladder cancer and the initial screening for GAS1 and PTC mutations.		601309	8112	1	1996												
115440		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	20	20q12-q13.11	ADA	42681576	42713790		Lucarelli P 1978	621091				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			Y Wang	100	Hs.255479			Human heredity. 1978 ;28(2):89-95	Genetic polymorphisms in juvenile-onset diabetes		608958	108	1	2004												
123548	Y	diaphragmatic hernia	OTHER	OTH	Hernia, Diaphragmatic|Chromosome Deletion	19	19q13.3-q13.4	FTL	54160377	54161948		Youssoufian H et al. 1988	3162227				Ferritin, light polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF244604			KGB	2512	Hs.433670			Human genetics. 1988 Mar;78(3):267-70	Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene.		134790	2722	1	1988												
123483		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11p11.2	FOLH1	49124762	49186798		Lievers, K.  et al. 2002	12204797	(1561C-->T)			Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			Atherosclerosis. 2002 Oct;164(2):269-73	Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C-->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk.		600934	10733	2	2002	Since not only homocysteine itself is considered to be positively associated with the risk of CVD, but also a decreased folate status, the results of this study indicate that the 1561C-->T polymorphism may affect the predisposition to CVD.	Case:190 vascular disease patients;Control:601 apparently healthy controls										
123466		ataxia	NEUROLOGICAL	NEUR	Ataxia|Tremor|Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Van Esch, H.  et al. 2005	15483640				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			European journal of human genetics. 2005 Jan;13(1):121-3	Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.		309550	16728	2	2005	In light of these figures, we recommend that FMR-1 analysis should be included in the molecular diagnostic work-up in the group of male ataxia patients older than 50 years.	Cohort 122 male patients, older than 50 years, who were referred to us for testing of the spinocerebellar ataxia (SCA 1, 2, 3, 6, 7) genes and who were found to be negative Belgium 										
123458	Y	premature ovarian failure; menopause, early	REPRODUCTION	REP	Fragile X Syndrome|Menopause, Premature|Ovarian Failure, Premature	X	Xq27.3	FMR1	146801200	146840303		Mallolas, J.  et al. 2001	11256870				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3		Spain	CDC GDPinfo	2332	Hs.103183			Menopause (New York, NY). 2001 ;8(2):106-10	Implications of the FMR1 gene in menopause: studyof 147 Spanish women.		309550	16720	2	2001	 Our data support the hypothesis that the FMR1 gene is one of the genes associated with POF and EM. Analysis of the CGG expansion in the FMR1 gene may be justified in women with POF and EM until the real role of the FMR1 premutation is determined.	Cohort 43 women with premature ovarian failure Cohort 6 full mutated carriers of fragile X syndrome Cohort 98 premutated carriers of fragile X syndrome 										
123425		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	13	13q12	FLT3	27475410	27572729		Kang, H. J.  et al. 2005	15863200				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDPinfo	2322	Hs.507590			Leukemia research. 2005 Jun;29(6):617-23	Prognostic significance of FLT3 mutations in pediatric non-promyelocytic acute myeloid leukemia.		136351	16708	2	2005												
123274	Y	post-trauma fibrinogen increase	OTHER	OTH	Craniocerebral Trauma|Thoracic Injuries	4	4q28	FGA	155723729	155731347		Ferrer-Antunes C et al. 1998	9851811				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			KGB	2243	Hs.351593			Thrombosis research. 1998 Dec;92(5):207-12	Association between polymorphisms in the fibrinogen alpha- and beta-genes on the post-trauma fibrinogen increase.		134820	2655	1	1998												
139536		antineutrophil cytoplasmic antibody; (ANCA)-associated vasculitis	IMMUNE	IMM	Vasculitis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Tsuchiya, N.  et al. 2003	12858454				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	CDC GDPinfo	2215	HS.372679			The Journal of rheumatology. 2003 Jul;30(7):1534-40	Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 withmicroscopic polyangiitis.		610665	26867	2	2003	 There was an association of HLA-DRB1*0901 with MPA and MPO-ANCA positive vasculitis in Japanese patients.	Cohort 69 patients, including 50 with microscopic polyangiitis (MPA), recruited in a multicenter study 										
123213		poliomyelitis	OTHER	OTH	Poliomyelitis|Postpoliomyelitis Syndrome|Acute Disease|Disease Progression|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Rekand, T.  et al. 2002	12447772				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDPinfo	2212	Hs.352642			The Journal of infectious diseases. 2002 Dec;186(12):1840-3	Fcgamma receptor IIIA polymorphism as a risk factor for acute poliomyelitis.		146790	10631	2	2002	In comparison with healthy control subjects without a history of poliomyelitis, significantly fewer patients had the FcgammaRIIIA genotype V/V (P<.01). However, this genotype was not an independent risk factor for PPS. The FcgammaRIIA and IIIB genotypes and allele frequencies did not differ between the patients and control subjects. The FcgammaRIIIA V/V genotype may lower the risk for contracting acute poliomyelitis through better clearance of poliovirus.	Control healthy control subjects without a history of:poliomyelitis;Case:110 Norwegian patients with well-defined histories of acute poliomyelitis										
123077	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Atrophy|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Wu, J.  et al. 2004	14991945	A670G			Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			World journal of gastroenterology. 2004 Mar;10(5):717-20	Association of FAS (TNFRSF6)-670 gene polymorphism with villous atrophy in coeliac disease.		134637	10558	2	2004	 FAS-G670A gene polymorphism is associated with the severity of villous atrophy in CD. Female gender is also associated with the severity of villous atrophy.	Case:146 unrelated celiac disease patients;Control:203 healthy ethnically matched controls										
116812		cholesterol; apoA-IV; apoE; triacylglycerols	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Vincent, S.  et al. 2002	12691171				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			The Proceedings of the Nutrition Society. 2002 Nov;61(4):427-34	Genetic polymorphisms and lipoprotein responses to diets.		107690	12181	2	2002	These data provide evidence of the interaction between some SNP and the metabolic response to diets.	Cohort 300 patients randomized into two groups over periods of 3 and 12 months 	diet									
123029	Y	nephropathy, diabetic; proteinuria	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Canani, L. H.  et al. 2005	16249461	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Massachusetts|Brazil	CDC GDPinfo	2169	Hs.282265			Diabetes. 2005 Nov;54(11):3326-30	The Fatty Acid-Binding Protein-2 A54T Polymorphism Is Associated With Renal Disease in Patients With Type 2 Diabetes.		134640	10544	2	2005												
130439	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q31	MET	116099694	116225676		Daimon M 2003	12646233				Met proto-oncogene (hepatocyte growth factor receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000245.2	Japanese	Japan	Y Wang	4233	Hs.132966			Biochemical and biophysical research communications. 2003 Mar;302(4):751-8	Large-scale search of SNPs for type 2 DM susceptibility genes in a Japanese population.		164860 		4500	1	2003												
123002	Y	insulin resistance and intra-abdominal fat thickness	METABOLIC	MET	Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Yamada K et al. 1997	9222651				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese	Japan	KGB	2169	Hs.282265			Diabetologia. 1997 Jun;40(6):706-10	Association between Ala54Thr substitution of the fatty acid-binding protein 2 gene with insulin resistance and intra-abdominal fat thickness in Japanese men.		134640	2549	1	1997												
115510		heart anomalies, congenital	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Heart Defects, Congenital|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Shaw, G. M.  et al. 2005	16100725				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		California	CDC GDPinfo	118	Hs.183706			American journal of medical genetics Part A. 2005 Sep;138(1):21-6	Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.		102680	8423	2	2005			smoking (tobacco), maternal									
140921		recurrent abortions	OTHER	OTH	Abortion, Habitual|Pregnancy Complications, Hematologic|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Pauer HU 2003	12956845				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Germany	KGB	4524	Hs.214142			Acta obstetricia et gynecologica Scandinavica. 2003 Oct;82(10):942-7	Analyzes of three common thrombophilic gene mutations in German women with recurrent abortions.		607093	7378	1	2003	 The results of the present study reveal no relationship between these common three thrombophilic mutations and recurrent abortions for the German population, and further studies are essentially recommended on whether a thrombophilia evaluation should be performed in patients with recurrent abortions.											
122680	N	antiphospholipid syndrome	IMMUNE	IMM	Thrombosis|Antiphospholipid Syndrome	11	11p11-q12	F2	46697330	46717631	n	Bentolila S et al. 1997	9408029			3' untranslated	Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Thrombosis and haemostasis. 1997 Nov;78(5):1415	Lack of association between thrombosis in primary antiphospholipid syndrome and the recently described thrombophilic 3'-untranslated prothrombin gene polymorphism.		176930	2475	1	1997												
122664		previous first episodes of deep-vein thrombosis	OTHER	OTH	Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Cattaneo M et al. 1999	10065893				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Thrombosis research. 1999 Jan;93(1):8-Jan	The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A methylenetetrahydrofolate reductase C677T and plasma prothrombin levels.		176930	2459	1	1999												
122555		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Middleton, P. G.  et al. 2003	12815477				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Bone marrow transplantation. 2003 Jul;32(1):41-7	Oestrogen receptor alpha gene polymorphism associates with occurrence of graft-versus-host disease and reduced survival in HLA-matched sib-allo BMT.		601663	21292	2	2003	Variation in transplant performance because of ER genotype suggests an underlying role for oestrogens in the pathophysiology of transplant-related complications, and suggests that oestrogen-related therapy may offer a new modality of post-transplant support.	Cohort 108 patients receiving a bone marrow transplant from an HLA-matched sibling donor 										
115965	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	8	8p12-p11.2	ADRB3	37939672	37943341		Iwamoto I 2003	12962933				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		Japan	KGB	155	Hs.2549			Obstetrics and gynecology. 2003 Sep;102(3):506-11	Association of estrogen receptor alpha and beta3-adrenergic receptor polymorphisms with endometrial cancer.		109691	304	1	2003	 Estrogen receptor alpha polymorphisms, but not beta3-adrenergic receptor gene, may be associated with a risk of endometrial cancer.											
122423	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Ongphiphadhanakul B et al. 2001	11846326				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Osteoporosis international. 2001 Dec;12(12):1015-9	Association of a G2014A transition in exon 8 of the estrogen receptor-alpha gene with postmenopausal osteoporosis.		133430	2414	1	2001	We conclude that  a G2014A SNP in exon 8 of ERalpha is associated with the presence and severity of postmenopausal osteoporosis. Linkage disequilibrium between this polymorphism and the 3'-untranslated region of the ERalpha gene which may participate in the regulation of ERalpha gene expression remains to be determined.											
122420	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease|Hyperlipoproteinemia Type II	6	6q25.1	ESR1	152053407	152466099		Lu H et al. 2002	12006396				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			Arteriosclerosis, thrombosis, and vascular biology. 2002 May;22(5):817-23	Association of estrogen receptor-alpha gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia.		133430	2411	1	2002	We conclude that  -1989T/G or its linked polymorphisms in the ER-alpha gene may confer risk for CAD and that the G/G genotype may be an independent predictor for CAD in patients with familial hypercholesterolemia.											
122260		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Montgomery, K. G.  et al. 2003	14578152	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Cancer epidemiology, biomarkers & prevention. 2003 Oct;12(10):1109-11	The HER2 I655V polymorphism and risk of breast cancer in women < age 40 years.		164870	10339	2	2003	Although the biological role of the I655V polymorphism is not known, large independent studies of early onset breast cancer are warranted to attempt to replicate this finding.	Control:299 controls frequency matched for age;Case:409 Australian women with breast cancer diagnosed before the age of 40 years										
118276		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	7	7q31.1	CAV2	115715362	115935831		Burmester, J. K.  et al. 2004	15583422				Caveolin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001233.3			CDC GDPinfo	858	Hs.212332			Human heredity. 2004 ;57(4):172-8	Analysis of candidate genes for prostate cancer.		601048	20644	2	2004	Significant differences in allele frequencies between cases and controls were observed for ID3 (inhibitor of DNA binding), p = 0.05, HPN (hepsin), p = 0.009, BCAS1 (breast carcinoma amplified sequence 1), p = 0.007, CAV2 (caveolin 2), p = 0.007, EMP3 (epithelial membrane protein 3), p < 0.0001, and MLH1 (mutL homolog 1), p < 0.0001. SNPs in three of these genes (BCAS1, EMP3 and MLH1) remained significant in an age-matched subsample.	Control:556:controls;Case:590 prostate cancer cases										
122085		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Ogata, T.  et al. 2005	15944607				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDPinfo	2006	Hs.252418			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		130160	21216	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
122077	Y	supravalvular aortic stenosis	OTHER	OTH	Aortic Valve Stenosis|Translocation, Genetic|Syndrome	7	7q11.23	ELN	73080362	73122172		Curran ME et al. 1993	8096434				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			KGB	2006	Hs.252418			Cell. 1993 Apr;73(1):159-68	The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.		130160	2349	1	1993												
122065		asthma	IMMUNE	IMM	Asthma	17	17p11.2	ELAC2	12836432	12862049		Takeoka, S.  et al. 2001	11281413				ElaC homolog 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018127.4			CDC GDPinfo	60528	Hs.434232			Journal of human genetics. 2001 ;46(2):57-63	Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children.		605367	16492	2	2001	These results indicated that specific variants of the IKAP gene, or a variant in linkage disequilibrium with the TGAAAT haplotype, might be associated with mechanisms responsible for early-onset BA.	Case bronchial asthma patients;Control not specified in abstract										
131085	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671		Rennert, H.  et al. 2005	15824169				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	European American, African American	Philadelphia	CDC GDPinfo	4481	Hs.632045			Cancer epidemiology, biomarkers & prevention. 2005 Apr;14(4):949-57	Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.		153622	22961	2	2005	Therefore, MSR1 and RNASEL may play a role in prostate cancer progression and severity.	Control:473/163 European American (n=473) and African American:(n=163) controls;Case:888/131 European American (n=888) and African American (n=131) prostate cancer cases	family history									
122006	Y	radiation sensitivity	UNKNOWN	UNK	Rectal Neoplasms|Neoplasm Recurrence, Local	7	7p12	EGFR	55054218	55242525		Zhang, W.  et al. 2005	15701846				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDPinfo	1956	Hs.488293			Clinical cancer research. 2005 Jan;11(2 Pt 1):600-5	Epidermal growth factor receptor gene polymorphisms predict pelvic recurrence in patients with rectal cancer treated with chemoradiation.		131550	10257	2	2005	Our data suggest that the HER-1 R497K and EGFR intron 1 (CA)(n) repeat polymorphisms may be potential indicators of radiosensitivity in patients with rectal cancer treated with chemoradiation.	Cohort 59 patients with locally advanced rectal cancer treated with adjuvant or neoadjuvant chemoradiation therapy 	chemotherapy radiation									
140573		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	5	5q11	IL6ST	55272450	55326520		Suzuki, A.  et al. 2004	15081423				Interleukin 6 signal transducer (gp130, oncostatin M receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002184.2	Japanese	Japan	CDC GDPinfo	3572	Hs.532082			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		600694	27774	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
121963		stroke, lacunar; small-vessel disease	CARDIOVASCULAR	CARD	Brain Ischemia|Brain Infarction|Leukoaraiosis	4	4q31.22-q31.23	EDNRA	148621579	148685555		Gormley, K.  et al. 2005	16002759				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDPinfo	1909	Hs.183713			Stroke; a journal of cerebral circulation. 2005 Aug;36(8):1656-60	Polymorphisms in genes of the endothelin system and cerebral small-vessel disease.		131243	21208	2	2005	 This study, in a well-phenotyped population, does not support a role for genetic variation in the ET system as a risk factor for cerebral SVD.											
129547		hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19p13.3	LDLR	11061131	11105490		Liljedahl, U.  et al. 2003	12544508				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDPinfo	3949	Hs.213289			Pharmacogenetics. 2003 Jan;13(1):17-Jul	A microarray minisequencing system for pharmacogenetic profiling of antihypertensive drug response.		606945	28487	2	2003	Our results highlight the potential of microarray-based technology for SNP genotyping in pharmacogenetics.(1)	Cohort 97 hypertensives 	atenolol irbesartan									
121906		systemic lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic	5	5q34	DUSP1	172127706	172130809		Cho ML 2003	12765304				Dual specificity phosphatase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004417.2	Korean		Y Wang	1843	Hs.171695			Lupus. 2003 ;12(5):400-5	Association of homozygous deletion of the Humhv3005 and the VH3-30.3 genes with renal involvement in systemic lupus erythematosus.			2318	1	2003												
121666		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Lerman, C.  et al. 2003	12627466				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		126451	27703	2	2003	Review article											
130174		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Iwata, Y.  et al. 2003	12497608				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Japanese		CDC GDPinfo	4128	Hs.183109			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Jan;116(1):23-6	Early-onset schizophrenia and dopamine-related gene polymorphism.		309850	27541	2	2003	No significant difference was found in the allele frequencies or genotype distributions of any of the eight genes examined between EOS and the control groups. We did not find the relationship between the polymorphism of eight dopamine-related genes and susceptibility to early-onset schizophrenia in a Japanese sample.	Control:148 Japanese healthy controls;Case:51 Japanese patients who met DSM-IV criteria for schizophrenia with an onset before age 16										
139346		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287		Mochi, M.  et al. 2003	12624717				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Neurological sciences. 2003 Feb;23(6):301-5	A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes.		223360	21138	2	2003	Our data iYdicate that MO, but Yot MA, shows sigYificaYt geYetic associatioY with DRD4.	Control:117:controls;Case:93/101 individuals with migraine with aura (n=93) and with migraine without aura (n=101)										
138562		schizophrenia; tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Liou, Y. J.  et al. 2004	15626824				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese	Taiwan	CDC GDPinfo	627	Hs.502182			Neuromolecular medicine. 2004 ;5(3):243-51	Association analysis of the dopamine D3 receptor gene ser9gly and brain-derived neurotrophic factor gene val66met polymorphisms with antipsychotic-induced persistent tardive dyskinesia and clinical expression in Chinese schizophrenic patients.		113505	8913	2	2004	We concluded that the BDNF val66met genetic polymorphism may exert its effect on the clinically phenotypic variability after TD has occurred. Further replication studies with larger sample size and stringent definition for TD is necessary.	Cohort 216 schizophrenic patients (Tardive dyskenesia, n=102/non-tardive dyskinesia, n=114) 										
117004		cognitive impairment	PSYCH	PSY	Memory Disorders	19	19q13.2	APOC1	50109416	50114446		Bartres-Faz, D.  et al. 2002	12113906				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDPinfo	341	Hs.110675			Neuroscience letters. 2002 Jul;327(3):177-80	Relationship among (1)H-magnetic resonance spectroscopy, brain volumetry and genetic polymorphisms in humans with memory impairment.		107710	20462	2	2002	Multiple regression analyses showed that the APOC1 polymorphism was the only variable which predicted NAA/Cr values in basal ganglia. NAA/Cr metabolites in the medial temporal lobe but not in the basal ganglia region were related with lower performance in verbal memory.	Cohort 44 subjects with age-related memory impairment 										
121546		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Batra, V.  et al. 2003	12740294				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDPinfo	1813	Hs.73893			Chest. 2003 May;123(5):1730-9	The genetic determinants of smoking.		126450	25960	2	2003	Review article											
121248		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.3	DBP	53825756	53832400		Pani MA 2004	10593571				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Germans	Germany	Y Wang	1628	Hs.414480			Autoimmunity. 1999 ;31(1):67-72	Vitamin D binding protein alleles and susceptibility for type 1 diabetes in Germans		124097	1721	1	2004												
127902		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	2	2q14	IL1A	113247962	113259442		Kim, M. S.  et al. 2004	15220553				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		147760	27012	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
140550		cirrhosis; pancreatitis	UNKNOWN	UNK	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic	7	7p21	IL6	22733322	22738141		Kim, M. S.  et al. 2004	15220553				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			The Korean journal of gastroenterology. 2004 Jun;43(6):355-63	[Genetic polymorphisms of alcohol-metabolizing enzymes and cytokines in patients with alcohol induced pancreatitis and alcoholic liver cirrhosis]		147620	27766	2	2004	 There was no difference in the frequencies of genotype and allele of enzymes and cytokines among the three groups. However, frequency of ADH2*1 was significantly higher and those of CYP2E1*c2 and ALDH2*2 were significantly lower than LC group than control.	Control:100 healthy blood donors;Case:29/22 alcoholic pancreatitis patients (n=29) and alcoholic liver cirrhosis patients (n=22)										
130917		leukemia	CANCER	CAN	Leukemia, Pre-b-cell|Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Krajinovic, M.  et al. 2002	11774269				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			International journal of cancer. Journal international du cancer. 2002 Jan;97(2):230-6	Role of NQO1, MPO and CYP2E1 genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia.		606989	22925	2	2002	It is therefore plausible that exposure to xenobiotics metabolized by these enzymes play a role in the etiology of childhood ALL.	Case:174 Aculte lymphoblastic leukemia patients of French Canadian origin;Control:337 controls of French-Canadian origin										
131368	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003	p=0.002	Bandmann O 1997	9343502				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Lancet. 1997 Oct;350(9085):1136-9			243400	35	1	1997		Case:100; Control:100										
120759	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		O'loughlin, J.  et al. 2004	15564629				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			Tobacco control. 2004 Dec;13(4):422-8	Genetically decreased CYP2A6 and the risk of tobacco dependence: a prospective study of novicesmokers.		122720	16072	2	2004	 Adolescents with 1-2 copies of CYP2A6*2 or *4 are at substantially increased risk of becoming dependent but smoke less once dependent. Genetic risk for ND may need to be considered in the conceptualisation of tobacco control programmes for adolescents.	Cohort 281 smokers from a prospective study of 1293 grade 7 students from a convenience sample of 10 schools 										
120740	N	liver function	OTHER	OTH	Liver Diseases|Venous Insufficiency	19	19q13.2	CYP2A6	46041283	46048180		Burian, M.  et al. 2003	12708602				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			International journal of clinical pharmacology and therapeutics. 2003 Apr;41(4):141-7	Single copy of variant CYP2A6 alleles does not confer susceptibility to liver dysfunction in patients treated with coumarin.		122720	9865	2	2003	 No evidence was obtained that the studied polymorphism in CYP2A6 is a determinant of the coumarin-associated liver dysfunction.	Cohort 231 German patients with chronic venous insufficiency 	coumarin troxerutin									
120689	Y	salt-wasting congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital|Acidosis|Dehydration|Hyperkalemia|Hyponatremia	6	6p21.3	CYP21A1	32090516	32111160		Kohn B et al. 1995	7677150			splice variant	cytochrome P450, family 21, subfamily a, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			KGB	1589	Hs.278430			American journal of medical genetics. 1995 Jul;57(	Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia.		201910	1712	1	1995	We conclude that  the common nt 656 A-->G mutation is sometimes associated with delayed phenotypic expression of SW-CAH. We speculate that variable splicing of the mutant CYP21 may modify the clinical manifestations of this disease.											
120439		prostate cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Duzhak, T. G.  et al. 2001	11507974				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Siberia	CDC GDPinfo	1543	Hs.72912			International journal of circumpolar health. 2001 Apr;60(2):228-34	Genetic polymorphisms of CYP1A1, GSTM1 and P53 genes in a unique Siberian population of Tundra Nentsi and its pharmacogenetic importance		108330	9795	2	2001	Thus the prevalence of two polymorphic genes CYP1A1 and GSTM1 responsible for the biotransformation of polycyclic aromatic hydrocarbons was too high in the non-healthy group.	Cohort a unique Siberian population of Tundra Nentsi 										
120480	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Yen, J. H.  et al. 2004	15088300				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Taiwan	CDC GDPinfo	1543	Hs.72912			The Journal of rheumatology. 2004 Apr;31(4):736-40	Cytochrome P450 1A1 and manganese superoxide dismutase gene polymorphisms in Bechet's disease.		108330	14021	2	2004	 Simultaneous presence of CYP1A1 4889G and 4887A is associated with development of BD in Taiwan.	Case:51 patients with Behcet's disease;Control:91 healthy controls										
120478	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	15	15q22-q24	CYP1A1	72798942	72804930		Yen, J. H.  et al. 2003	12880680				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Taiwan	CDC GDPinfo	1543	Hs.72912			Immunology letters. 2003 Aug;88(2):113-6	Cytochrome P450 1A1 and manganese superoxide dismutase genes polymorphisms in ankylosing spondylitis		108330	14014	2	2003	 CYP1A1 4887A may be a protective factor for the development of AS in Taiwan. However, MnSOD gene polymorphisms are not associated with the susceptibility to AS.	Case:70 patients with ankylosing spondylitis:Taiwan;Control:93 healthy controls										
127470	Y	bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Chen, H. Y.  et al. 2005	15927351				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			European journal of obstetrics, gynecology, and reproductive biology. 2005 Sep;122(1):73-8	Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density andsusceptibility to osteoporosis.		124092	22367	2	2005	 The RsaI IL-10 promoter gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine.	Cohort postmenopausal women 										
120287		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Chang, J. H.  et al. 2005	15987458				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Australia	CDC GDPinfo	1586	Hs.438016			Breast cancer research. 2005 ;7(4):R513-21	CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian BreastCancer Family Study.		202110	9745	2	2005	 We observed no evidence of effect modification of reproductive risk factors by CYP17 genotype, although the experiment did not have sufficient statistical power to detect small main effects and modest effects in subgroups. Associations found only in subgroup analyses based on relatively small numbers require cautious interpretation without confirmation by other studies. This emphasizes the need for replication in multiple and large population-based studies to provide convincing evidence for gene-environment interactions.		hormone replacement therapy menopause									
131809	N	Idiopathic Dilated Cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	1	1p36.2	NPPB	11840107	11841579	n	Tiret L 2000	10636255	C- 1563T polymorphism			Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2			KGB	4879	Hs.219140			Journal of the American College of Cardiology. 2000 Jan;35(1):29-35			600295	4769	1	2000	 We did not find evidence for an involvement of any of the 10 investigated polymorphisms in the susceptibility to IDC.	Case:433; Control:401										
141011		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Relton, C. L.  et al. 2004	15060097				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Great Britain	CDC GDPinfo	4524	Hs.214142			Journal of medical genetics. 2004 Apr;41(4):256-60	Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.		607093	19254	2	2004	 Both independent genetic effects and gene-gene interaction were observed in relation to NTD risk. Multi-locus rather than single locus analysis might be preferable to gain an accurate assessment of genetic susceptibility to NTD.	Case:530 individuals from families affected by NTD northern UK;Control:645/602 maternal controls (n=645) and healthy newborn:controls (n=602)										
138803		HIV	INFECTION	INF	HIV Infections|AIDS Dementia Complex|Disease Progression	3	3p21	CCR2	46370363	46377429		Singh, K. K.  et al. 2003	14624371				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			The Journal of infectious diseases. 2003 Nov;188(10):1461-72	Genetic influence of CCR5, CCR2, and SDF1 variants on human immunodeficiency virus 1 (HIV-1)-related disease progression and neurological impairment, in children with symptomatic HIV-1 infection.		601267	15657	2	2003	Thus, in children with the CCR5-wt/wt genotype, variants at CCR5-59029 have the broadest impact on disease progression. These data suggest that, in children, host genetics plays an important role in HIV-1-related disease progression and neurological impairment.	Cohort 1,049 children with symptomatic HIV-1 infection who participated in 2 clinical trials US 										
120004	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	4	4q21	CXCL1	74953972	74955817		Tamura, Y.  et al. 2005	15843053				Chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001511.1	Japanese	Japan	CDC GDPinfo	2919	Hs.789			Neuroscience letters. 2005 May;379(3):149-51	Association study of the chemokine, CXC motif, ligand 1 (CXCL1) gene with sporadic Alzheimer's disease in a Japanese population.		155730	15955	2	2005	Therefore, the data presented here suggests that the CXCL1 gene could not be associated with the susceptibility to AD in a Japanese population.	Case:103 Japanese Alzheimer's disease patients;Control:130 healthy individuals										
119916	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Ongagna, J. C.  et al. 2002	11900275				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		France	CDC GDPinfo	1493	Hs.247824			International journal of experimental diabetes research. 2002 ;3(1):9-Jan	Markers for risk of type 1 diabetes in relatives of Alsacian patients with type 1 diabetes.		123890	17251	2	2002	 The CTLA-4 49 Ala allele confers an increased risk of type 1 diabetes, independent of age and HLA-DQ genetic markers.	Case:62 type 1 diabetics;Control:84 nondiabetic control subjects										
119696	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Kantarci OH 2003	12507781	3'(514)*AT(8) allele		3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	individuals from American multiplex pedigrees: patients with MS	Minnesota|Boston	KEW	1493	Hs.247824			Journal of neuroimmunology. 2003 Jan;134(2-Jan):133-41	CTLA4 is associated with susceptibility to multiple sclerosis.		123890	1446	1	2003	We did not detect linkage with MS susceptibility in multiplex families. We did not find a strong association with age at onset, disease course or severity. CTLA-4 is associated with susceptibility to MS.	Case:122 sporadic patients with multiple sclerosis;Control:244 age-, gender- and ethnicity-matched controls										
127201		Wegener's granulomatosis	UNKNOWN	UNK	Wegener Granulomatosis|Kidney Failure, Chronic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Spriewald, B. M.  et al. 2005	15708894				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Annals of the rheumatic diseases. 2005 Mar;64(3):457-61	Distinct tumour necrosis factor alpha, interferon gamma, interleukin 10, and cytotoxic T cell antigen 4 gene polymorphisms in disease occurrence and end stage renal disease in Wegener's granulomatosis.		147570	24917	2	2005	 Disease susceptibility and clinical course in WG may be associated with distinct polymorphisms of cytokine and CTLA4 genes.	Case:32 patients with generalized Wegener's granulomatosis;Control:91 healthy controls										
119773		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Owerbach D 2004	9166681				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			Y Wang	1493	Hs.247824			Diabetes. 1997 Jun;46(6):1069-74	Analysis of candidate genes for susceptibility to type I diabetes: a case-control and family-association study of genes on chromosome 2q31-35.		123890	1523	1	2004												
119742	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	0.014	Matsushita M et al. 1999	10674972	Ala17Thr		coding sequence	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese	Japan	Tsuchiya N	1493	Hs.247824			Tissue antigens. 1999 Dec;54(6):578-84			123890	1492	1	1999		Case:461; Control:150										
119711	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Chistiakov DA et al. 2001	11286636				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Russian	Russia	KGB	1493	Hs.333497			BMC genetics [electronic resource]. 2001 ;2:6	CTLA4 gene polymorphisms are associated with and linked to insulin-dependent diabetes mellitus in a Russian population.		123890	1461	1	2001	 The CTLA4 gene is strongly associated with, and linked to IDDM in a Russian population.											
119630		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	1	1q21-q23	CRP	157948702	157951003		Flex, A.  et al. 2004	15308783				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2270-5	Proinflammatory genetic profiles in subjects with history of ischemic stroke.		123260	20841	2	2004	 Proinflammatory genetic profiles are significantly more common in subjects with stroke history. Synergistic effects between proinflammatory genotypes might be potential markers for cerebrovascular diseases.	Control:223 age-matched and gender-matched controls;Case:237 individuals with history of ischemic stroke										
119612	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Acute-Phase Reaction	1	1q21-q23	CRP	157948702	157951003		Brull, D. J.  et al. 2003	12842840				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2		Great Britain	CDC GDPinfo	1401	Hs.76452			Arteriosclerosis, thrombosis, and vascular biology. 2003 Nov;23(11):2063-9	Human CRP gene polymorphism influences CRP levels:implications for the prediction and pathogenesis of coronary heart disease.		123260	9503	2	2003	 The CRP gene +1444C>T variant influences basal and stimulated CRP level. These findings have implications both for the prediction and pathogenesis of coronary heart disease.	Cohort 193/250 coronary artery bypass graft (CABG) patients (n=193) and male army recruits before and after strenuous exercise (n=250) 										
126944	Y	malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Bellamy R et al. 1998	9861406				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	West African	Gambia	KGB	3383	Hs.643447			Transactions of the Royal Society of Tropical Medicine and Hygiene. 1998 May-Jun;92(3):312-6	Absence of an association between intercellular adhesion molecule 1 complement receptor 1 and interleukin 1 receptor antagonist gene polymorphisms and severe malaria in a West African population.		147840	3365	1	1998												
119444	Y	osteoporosis	AGING	AGE	Osteoporosis|Osteoporosis, Postmenopausal|Spinal Diseases|Fractures, Bone|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Pluijm, S. M.  et al. 2004	14672895	COL1A1 Sp1			Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Annals of the rheumatic diseases. 2004 Jan;63(1):71-7	Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women.		120150	9450	2	2004	 COLIA1 Sp1 polymorphism may be a genetic risk factor related to intervertebral disc degeneration in older people. Previously reported associations between the COLIAI Sp1 genotype and lower BMD or QUS values, higher levels of DPD/Cr, and an increased fracture risk in either men or women could not be confirmed.	Cohort 966 men and women (>/=65 years) of the Longitudinal Aging Study Amsterdam 										
119400		osteoporosis	METABOLIC	MET	Osteoporosis	1	1p36.11	CNR2	24073046	24112404		Karsak, M.  et al. 2005	16204352				Cannabinoid receptor 2 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001841.1			CDC GDPinfo	1269	Hs.73037			Human molecular genetics. 2005 Nov;14(22):3389-96	Cannabinoid receptor type 2 gene is associated with human osteoporosis.		605051	20806	2	2005												
119341		sleep disorders	OTHER	OTH	Disorders of Excessive Somnolence	4	4q12	CLOCK	55993416	56107754		Lattuada, E.  et al. 2004	15331141				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDPinfo	9575	Hs.436975			Neuroscience letters. 2004 Sep;367(2):152-5	Genetic dissection of drug effects in clinical practice: CLOCK gene and clozapine-induced diurnalsleepiness.		601851	15830	2	2004	We conclude that  an interaction between clozapine and the CLOCK gene polymorphism 3111 T/C substitution could explain persistent daytime sleepiness in a significant proportion of patients treated with clozapine.	Control healthy subjects;Case:171 patients with major psychosis	clozapine									
119259		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Rashid, M. U.  et al. 2005	16239104	1100delC			CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	German	Germany	CDC GDPinfo	11200	Hs.291363			Eur J Cancer. 2005 Dec;41(18):2896-903	German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer.		604373	15803	2	2005												
119226	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23	CH25H	90955673	90957051		Riemenschneider, M.  et al. 2004	15465627				Cholesterol 25-hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003956.3		Germany	CDC GDPinfo	9023	Hs.47357			Neurobiology of aging. 2004 Nov-Dec;25(10):1305-8	Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease.		604551	20792	2	2004	We conclude that  the investigated genetic variations do not contribute to the genetic risk of AD.	Control:162:controls;Case:286 patients with Alzheimer's disease										
131640	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	12	12q24.2-q24.31	NOS1	116135361	116283965		Texereau J 2004	14760158				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KGB	4842	Hs.253420			Thorax. 2004 Feb;59(2):156-8	Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis.		163731	4715	1	2004	 These data suggest a possible link between the NOS1 gene locus and the rate of decline in lung function in patients with CF.	Case:59 patients with cystic fibrosis;Control:59 healthy controls										
132972		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.3	PON2	94872109	94902320		van Aalst-Cohen, E. S.  et al. 2005	16030523				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			European journal of human genetics. 2005 Oct;13(10):1137-42	Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.		602447	28100	2	2005			alcohol beta blockers body mass smoking (tobacco)									
119077		RNA expression of carboxylesterases 1 and 2.	OTHER	OTH	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CES2	65525847	65536495		Marsh, S.  et al. 2004	15475243				Carboxylesterase 2 (intestine, liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003869.4			CDC GDPinfo	8824	Hs.282975			Genomics. 2004 Oct;84(4):661-8	Pharmacogenomic assessment of carboxylesterases 1 and 2.		605278	20775	2	2004	No association between SNPs in CES1 or CES2 was found with respect to RNA expression in normal colonic mucosa; however, an intronic SNP (IVS10-88) in CES2 was associated with reduced CES2 mRNA expression in colorectal tumors. Functional analysis of the novel polymorphisms described in this study is now warranted to identify putative roles in drug metabolism.	Cohort 190 healthy European and African individuals 										
130579		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Verma, L.  et al. 2001	11158177				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Journal of medical genetics. 2001 Feb;38(2):E7	Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer.		120436	22872	2	2001	In summary, we did not detect evidence to suggest that germline TGFBR2 or CDH1 mutations are a frequent occurrence in patients with early onset colorectal cancer or hereditary nonpolyposis colon cancer syndrome.	Control:30 normal controls;Case:67 patients with early onset colorectal cancer										
127997	N	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	0.206	Barber, R. C.  et al. 2004	15520404			5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Journal of medical genetics. 2004 Nov;41(11):808-13	TLR4 and TNF-alpha polymorphisms are associated with an increased risk for severe sepsis following burn injury.	rs1143627	147720	22489	2	2004	 The TLR4 +896 and TNF-alpha -308 polymorphisms were significantly associated with an increased risk for severe sepsis following burn trauma.	Cohort 159 patients with burns >/=20% of their total body surface area or any smoke inhalation injury without significant non-burn related trauma or spinal cord injury, and survived >48 h post-admission 										
118809	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Disease Progression|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Risley, P.  et al. 2003	12624278			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Germany	CDC GDPinfo	929	Hs.163867			Stroke; a journal of cerebral circulation. 2003 Mar;34(3):600-4	Promoter polymorphism in the endotoxin receptor (CD14) is associated with increased carotid atherosclerosis only in smokers: the CarotidAtherosclerosis Progression Study (CAPS).		158120	9241	2	2003	 The CD14 -159 polymorphism is associated with increased CCA IMT in smokers from a general population. CD14 may modulate the inflammatory effects of smoking in atherogenesis.	Cohort 992 individuals from a community population 	alcohol smoking (tobacco)									
118784	Y	Chlamydia pneumoniae infection	INFECTION	INF	Chlamydophila Infections|Arteriosclerosis	5	5q22-q32	CD14	139991500	139993439		Eng HL 2003	12825176			5'promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			The Journal of infectious diseases. 2003 Jul;188(1):90-7	Association of CD14 promoter gene polymorphism and Chlamydia pneumoniae infection.		158120	1148	1	2003	A significant association between the CD14 TT genotype and C. pneumoniae infection was found.	Cohort 315 healthy subjects										
118767	N	chronic infections and risk of stable coronary artery dis	CARDIOVASCULAR	CARD	Chlamydophila Infections|Helicobacter Infections|Angina Pectoris|Coronary Artery Disease	5	5q22-q32	CD14	139991500	139993439		Koenig W et al. 2002	12103253				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			Journal of the American College of Cardiology. 2002 Jul;40(1):34-42	CD14 C(-260)-->T polymorphism plasma levels of the soluble endotoxin receptor CD14 their association with chronic infections and risk of stable coronary artery disease.		158120	1131	1	2002	 These results do not confirm an independent relationship between CD14 genotypes or plasma levels of sCD14 and risk of stable CAD in this population.	Case:312 patients with angiographically proven CAD and stable angina pectoris;Control:477 age- and gender-matched healthy blood donors	Chlamydia pneumoniae Helicobacter pylori									
118759		Septic shock (susceptibility & mortality)	IMMUNE	IMM	Shock, Septic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439	0.008. 0.02	Gibot S 2002	12006789	CD14(C-159T)			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	90 septic shock (Caucasian)		KGB	929	Hs.163867			Critical care medicine. 2002 May;30(5):969-73	Association between a genomic polymorphism within the CD14 locus and septic shock susceptibility and mortality rate.		158120	1123	1	2002	 The C-159T polymorphism affects susceptibility to septic shock and seems to be a new genetic risk factor for death.	Control:122 age- and gender-matched white subjects;Case:90 consecutive white patients with septic shock										
118761	Y	Total IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439	P=0.018	Gao PS 1999	10517256	C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	British. Japanese	Japan|Great Britain	KGB	929	Hs.163867			Clinical genetics. 1999 Aug;56(2):164-5			158120	1125	1	1999												
118526		hepatitis C, chronic	INFECTION	INF	Hepatitis C|Liver Cirrhosis	17	17q11.2	CCL8	29670178	29672534		Hellier, S.  et al. 2003	14647058				Chemokine (C-C motif) ligand 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005623.2			CDC GDPinfo	6355	Hs.271387			Hepatology (Baltimore, Md). 2003 Dec;38(6):1468-76	Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection.		602283	24110	2	2003	In conclusion, our study suggests a possible role of the polymorphisms CCR5-Delta32, RANTES -403, and MCP-2 Q46K in the outcome of HCV infection.	Cohort a large European cohort 	hepatitis C treatment									
138820		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Substance-Related Disorders|Substance Abuse, Intravenous|Disease Progression	3	3p21	CCR2	46370363	46377429		Duggal, P.  et al. 2005	15793370				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	African American	United States	CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2005 Apr;38(5):584-9	The effect of RANTES chemokine genetic variants on early HIV-1 plasma RNA among African American injection drug users.		601267	20678	2	2005	Genetic variants in RANTES may downregulate RANTES gene expression and increase early HIV-1 plasma RNA. Because RANTES is a critical chemokine and competitively inhibits HIV-1 by binding to its receptor CCR5, treatment to enhance RANTES expression may assist in delaying the progression of AIDS by decreasing the initial viral load.	Cohort 198 seroincident injection drug users followed in the AIDS Link to Intravenous Experience cohort 										
138810	N	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	3	3p21	CCR2	46370363	46377429		Winkler, C. A.  et al. 2004	15602133				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of acquired immune deficiency syndromes (1999). 2004 Dec;37(4):1534-8	Dominant Effects of CCR2-CCR5 Haplotypes in HIV-1 Disease Progression.		601267	15665	2	2004	Follow-up of SP demonstrated that these polymorphisms have little effect after 8 years, because the subset of SP who had progression after study entry had the same genotype distribution as the global population of SP, suggesting that factors other than CCR5 or CCR2 genetic variants must be responsible for the long-term maintenance of nonprogression.	Cohort individuals from the GRIV cohort, which included patients representing the extremes of the distribution for AIDS progression 										
138757	Y	HIV infection	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Knudsen, T. B.  et al. 2001	11596075			promoter	CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Journal of medical virology. 2001 Nov;65(3):441-4	Adverse effect of the CCR5 promoter -2459A allele on HIV-1 disease progression.		601267	9164	2	2001	Homozygous carriers of the -2459A allele that lack the protective effects of the CCR5 Delta32 and CCR2 64I mutations were found to have a median survival of 6.0 years, whereas carriers of the -2459G allele had a median survival of 9.4 years (P < 0.01).	Cohort 119 individuals enrolled in the Copenhagen AIDS Cohort 										
118600		rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	3	3p21.3	CCR3	46180099	46283166		Chae, S. C.  et al. 2004	15580493				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Korean		CDC GDPinfo	1232	Hs.506190			Immunogenetics. 2005 Jan;56(10):760-4	The suggestive association of eotaxin-2 and eotaxin-3 gene polymorphisms in Korean population with allergic rhinitis.		601268	20683	2	2004	Our results strongly suggest that the SNP of eotaxin-3 might be associated with susceptibility to allergic rhinitis.	Case:178 allergic rhinitis patients;Control:281:control										
141906	Y	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	18	18p11.32	TYMS	647650	663492		Costea, I.  et al. 2003	12972956				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		France	CDC GDPinfo	7298	Hs.592338			Pharmacogenetics. 2003 Sep;13(9):577-80	The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia.		188350	23830	2	2003	A significant result is retained in the presence of other prognostic factors. This impact is even more apparent in individuals who are also homozygous for thymidylate synthase (TS) triple repeat (P < 0.00005), which has previously been shown to influence the outcome of childhood ALL.	Cohort children with acute lymphoblastic leukemia 										
118539	Y	lymphocytic lymphoma of intermediate differentiation	OTHER	OTH	Lymphoma, B-Cell|Lymphoma, Small-Cell|Lymphoma, Low-Grade|Cell Transformation, Neoplastic	11	11q13	BCL1	69165053	69178423		Medeiros LJ et al. 1990	2242428				cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056			KGB	595	Hs.523852			Blood. 1990 Nov;76(10):2086-90	Association of bcl-1 rearrangements with lymphocytic lymphoma of intermediate differentiation.		151400	951	1	1990												
118387		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312		Chae, S. C.  et al. 2004	15207712				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2		Korea	CDC GDPinfo	6356	Hs.54460			Biochemical and biophysical research communications. 2004 Jul;320(1):131-7	Analysis of the polymorphisms in eotaxin gene family and their association with asthma, IgE, and eosinophil		601156	9071	2	2004	Our results suggest that the polymorphisms of the eotaxin gene family are associated with the susceptibility of asthma and Eotaxin-3 might play the critical role for the recruitment of eosinophils and the maintenance of IgE levels.	Case:225 asthma patients;Control:294 non-asthmatic controls										
118261	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Zhou, X. F.  et al. 2005	15735318			promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Disease markers. 2005 ;21(1):7-Mar	Polymorphisms in the promoter region of catalase gene and essential hypertension.		115500	9018	2	2005	Our data suggest that genetic variations in the promoter region of catalase gene influence the susceptibility to essential hypertension. In addition, the genetic factors that contribute to hypertension maybe different between ethnic groups.	Cohort hypertensive Caucasians and African Americans 										
118256		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Chistiakov DA 2000	11033813	C1167T			Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			Y Wang	847	Hs.502302			Molekuliarnaia biologiia. 2000 Sep-Oct;34(5):863-7	Nucleotide substitution C1167T in the catalase gene and position of nearby polymorphic markers DS11S907 and D11S2008 are connected with development of diabetes mellitus type 2 , trans Nukleotidnaia zamena C1167T v gene katalazy i raspolozhennye nepodaleku		115500	1059	1	2000												
118202		atopic dermatitis	IMMUNE	IMM	Asthma|Dermatitis, Atopic|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Weidinger, S.  et al. 2005	15990792				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDPinfo	10392	Hs.405153			The Journal of allergy and clinical immunology. 2005 Jul;116(1):177-84	Association of NOD1 polymorphisms with atopic eczema and related phenotypes.		605980	12700	2	2005	 These data indicate that genetic variants within NOD1 are important determinants of atopy susceptibility.											
136382		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Brand, S.  et al. 2005	15973118				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Germany	CDC GDPinfo	7099	Hs.174312			Inflammatory bowel diseases. 2005 Jul;11(7):645-52	The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease.		603030	23661	2	2005	 The TLR4 Asp299Gly polymorphism is a risk factor for CD. TLR4 and CARD15/NOD2 mutations may contribute to distinct disease phenotypes.											
118138	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Helio T et al. 2003	12631669				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Gut. 2003 Apr;52(4):558-62	CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease.		605956	6816	1	2003	 The frequency of NOD2 gene variants was lower in genetically homogenous Finns than in other populations. The 1007fs variant was associated with CD. The occurrence of CARD15 variants predicted ileal location as well as stricturing and penetrating forms of CD.											
118071	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Malecki MT et al. 2002	11980626				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	population	Poland	KGB	11132	Hs.112218			European journal of endocrinology. 2002 May;146(5):695-9	Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population.		605286	6699	1	2002	 The results of our study suggest the association of calpain 10 121/121 haplotype combination created by SNPs -43, -19, and -63 with T2DM in a Polish population. However, we were not able to confirm the previously described role of the heterozygous 112/121 haplotype combination in susceptibility to T2DM.	Control:148 control individuals;Case:229 type 2 diabetes patients:Poland										
118048	Y	early marginal bone loss around endosseous implants.	OTHER	OTH	Alveolar Bone Loss|Mandibular Diseases|Maxillary Diseases	7	7q21.3	CALCR	92891734	93041972		Nosaka Y et al. 2002	11858573				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			KGB	799	Hs.489127			The International journal of oral & maxillofacial implants. 2002 Jan-Feb;17(1):38-43	Association of calcitonin receptor gene polymorphism with early marginal bone loss around endosseous implants.		114131	1045	1	2002	 Although further genetic research should be conducted, it is suggested that the CTR genetic test could become a useful tool in the planning of treatment before implant surgery and lead to more predictable implant treatment.	Cohort 35 patients receiving a total of 237 implants (89 implants were placed in maxillae and 148 implants in mandibles)	smoking (tobacco)									
118053	Y	osteoporosis, postmenopausal; bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	7	7q21.3	CALCR	92891734	93041972		Tsai, F. J.  et al. 2003	12771454				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			Gynecologic and obstetric investigation. 2003 ;55(2):82-7	The ALUI calcitonin receptor gene polymorphism (TT) is associated with low bone mineral density and susceptibility to osteoporosis in postmenopausal women.		114131	8967	2	2003	The ALUI calcitonin receptor gene polymorphism is associated with reduced bone mineral density and predisposes women to osteoporosis, but should be interpreted with caution because of the small number of subjects in the unfavorable TT genotype.	Cohort 167 postmenopausal women Taiwan 										
117629		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Spinocerebellar Ataxias|Myoclonic Epilepsies, Progressive	6	6p23	ATXN1	16407321	16869700		Wu, Y.  et al. 2004	14756671				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2		Taiwan	CDC GDPinfo	6310	Hs.434961			Clinical genetics. 2004 Mar;65(3):209-14	Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8and SCA17 are associated with typical Parkinson's disease.		125370	15383	2	2004	This study appears to be the first report describing the PD phenotype in association with an expanded allele in the TATA-binding protein gene and suggests that SCA8 may also be a cause of typical PD.	Cohort normal subjects and patients with ataxia and Parkinson's disease 										
139630		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		O'Brien, K. P.  et al. 2001	11348465				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			The Journal of investigative dermatology. 2001 May;116(5):750-4	The HCR gene on 6p21 is unlikely to be a psoriasis susceptibility gene.		142840	21797	2	2001	We conclude that  HCR polymorphisms display association with psoriasis due to linkage disequilibrium with Cw*0602 and is, therefore, unlikely to be directly involved in the development of psoriasis.	Control:38 population-matched controls:Sweden;Case:42 psoriasis patients:Sweden										
117819	N	neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Mouth Abnormalities|Spinal Dysraphism	5	5q13	BHMT2	78401338	78421031		Zhu, H.  et al. 2005	15887275				Betaine-homocysteine methyltransferase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017614.3			CDC GDPinfo	23743	Hs.114172			American journal of medical genetics Part A. 2005 Jun;135(3):274-7	Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?		605932	20592	2	2005	The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population.											
117778	Y	altered urinary albumin/creatinine values	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Maltais I et al. 2002	12025967				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			KGB	624	Hs.525572			Canadian journal of physiology and pharmacology. 2002 Apr;80(4):323-7	Bradykinin B2 receptor gene polymorphism is associated with altered urinary albumin/creatinine values in diabetic patients.		113503	973	1	2002	Thus, the B2R exon 1 polymorphism may represent a susceptibility marker for nephropathy progression in diabetic patients.	Cohort 49/112 type 1 diabetic patients (n=49) and type 2 diabetic patients (n=112)										
117747	Y	follicular lymphoma to diffuse large-cell lymphoma	CANCER	CAN	Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular|Cell Transformation, Neoplastic|Translocation, Genetic	18	18q21.33	BCL2	58941558	59137637		Matolcsy A et al. 1997	9209654				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			Annals of oncology. 1997 ;8 Suppl 2:119-22	Somatic mutations of the translocated bcl-2 gene are associated with morphologic transformation of follicular lymphoma to diffuse large-cell lymphoma.		151430	957	1	1997	 These findings demonstrate that FL and DLL cells may be clonally related or unrelated. They also show that transformation of FL cells can be associated with somatic point mutations of the bcl-2 oncogene ORF sequence resulting in alteration of the p26-bcl-2a gene product.											
117744	Y	follicular lymphoma	CANCER	CAN	Lymphoma, Large-cell, Diffuse|Lymphoma, Follicular|Cell Transformation, Neoplastic|Translocation, Genetic|Disease Progression	18	18q21.33	BCL2	58941558	59137637		Matolcsy A et al. 1996	8916960				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			Blood. 1996 Nov;88(10):3937-44	Morphologic transformation of follicular lymphoma is associated with somatic mutation of the translocated Bcl-2 gene.		151430	954	1	1996												
117686	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Ishitobi M 2003	14550946				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1		Japan	KGB	580	Hs.591642			Cancer letters. 2003 Oct;200(1):7-Jan	Mutational analysis of BARD1 in familial breast cancer patients in Japan.		601593	931	1	2003	These results suggest that BARD1 mutations are responsible for, if any, a very small number of familial breast cancers. Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer.	Case:143 population based breast cancer patients;Control:155 healthy controls										
117665	Y	nephrogenic diabetes insipidus	RENAL	REN	Kidney Diseases|Diabetes Insipidus	X	Xq28	AVPR2	152821178	152825834		Holtzman EJ et al. 1993	8401502				Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000054.2			KGB	554	Hs.567240			Human molecular genetics. 1993 Aug;2(8):1201-4	A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred.		300538	928	1	1993												
117642		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Spinocerebellar Ataxias|Machado-Joseph Disease	12	12q24.1	ATXN2	110374400	110521863		Svetel, M.  et al. 2003	12940846				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2		Yugoslavia	CDC GDPinfo	6311	Hs.76253			European journal of neurology. 2003 Sep;10(5):597	SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.		601517	15381	2	2003	These data do not prove the significance of these two mutations in either sporadic or familial YOP suggestive of Parkinson's disease.	Cohort 85 patients of Serbian origin with young-onset dopa-responsive parkinsonism 										
135510		hypospadias	DEVELOPMENTAL	DEV	Hypospadias	Y	Yp11.3	SRY	2714895	2715792		Wang, Y.  et al. 2004	15266301				Sex determining region Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003140.1	Chinese	China	CDC GDPinfo	6736	Hs.1992			European journal of human genetics. 2004 Sep;12(9):706-12	Mutation analysis of five candidate genes in Chinese patients with hypospadias.		480000	26598	2	2004	In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.	Control:controls;Case:90 Chinese hypospadias patients										
141052	N	Alzheimer's disease; vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	1	1p36.3	MTHFR	11768373	11788702		Zuliani, G.  et al. 2001	11328206				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Acta neurologica Scandinavica. 2001 May;103(5):304-8	Genetic polymorphisms in older subjects with vascular or Alzheimer's dementia.		607093	25275	2	2001	 Paraoxonase, ACE, and MTHFR polymorphisms were not associated with VD or LOAD; these common polymorphisms might have a marginal role in the pathogenesis of dementia in older subjects. In spite of a low frequency of the apo E epsilon4 allele in our sample, the frequency of epsilon4 allele was about double in LOAD compared with controls.	Case:45 patients with late-onset AD;Control:54 non-demented controls										
116888	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Artery Disease	2	2p24-p23	APOB	21077805	21120450	p<0.025	Stepanov VA 1998	9489234	XbaI. MspI. and EcoRI polymorphisms			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Russians	Russia	TJB	338	Hs.120759			Human biology; an international record of research. 1998 Feb;70(1):47-57			107730	583	1	1998		Case:94; Control:122										
116806	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA4	116196627	116199221		Bai, H.  et al. 2001	11592042				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Chinese		CDC GDPinfo	337	Hs.591940			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):356-61	[Analysis of apoA IV gene VNTR polymorphism in Chinese endogenous hypertriglyceridemics]		107690	8687	2	2001	 The results suggest that VNTR polymorphism in apoA IV gene is associated with healthy control subjects to some extent in Chinese population.	Case:47 endogenous hypertriglyceridemics from a population of Chinese Han nationality:Chengdu, China;Control:48 healthy subjects from a population of Chinese Han:nationality:Chengdu, China										
116709	Y	plasma high density lipoprotein cholesterol and apolipoprotein AI	METABOLIC	MET	Hypercholesterolemia	11	11q23-q24	APOA1	116211678	116213548		Fang DZ et al. 2002	11888526	Polymorphism of HL +1075C but not -480T			Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Chinese	China	KGB	335	Hs.93194			Atherosclerosis. 2002 Apr;161(2):417-24	Polymorphism of HL +1075C but not -480T is associated with plasma high density lipoprotein cholesterol and apolipoprotein AI in men of a Chinese population.		107680	562	1	2002												
116701		cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548		Bai H et al. 1996	8934336				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Journal of cardiology. 1996 Oct;28(4):207-12	Analysis of a new polymorphism in the human apolipoprotein A-I gene: association with serum lipoprotein levels and coronary heart disease.		107680	554	1	1996												
138232		benzene toxicity	METABOLIC	MET	DNA Damage|Chronic Disease|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Zhang, Z.  et al. 2005	16284386				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256	Chinese	China	CDC GDPinfo	7516	Hs.129727			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2614-9	Genetic polymorphisms in XRCC1, APE1, ADPRT, XRCC2, and XRCC3 and risk of chronic benzene poisoning in a Chinese occupational population.		600375	26770	2	2005												
116649		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Zhou, X. L.  et al. 2004	15122587				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Jewish		CDC GDPinfo	324	Hs.158932			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):550-7	Definition of candidate low risk APC alleles in a Swedish population.		175100	8654	2	2004	Twelve silent as well as 5 intronic variants were considered nonpathogenic. Two of the missense variants found here, E1317Q and D1822V, have previously been related to a difference in risk of colorectal cancer. One variant, 8636C>A, located within the 3' UTR region of the APC gene, was suggested to constitute an additional low risk allele with a similar relative risk as the Jewish I1307K mutation (OR = 1.8; 95% CI, 0.96-3.40). The question of whether all the other variants confer an increased colorectal cancer risk warrants future large association studies.	Case:96 Swedish colorectal cancer cases;Control:96 normal controls										
116556		asthma; folate; hyperhomocystinemia	IMMUNE	IMM	Cardiovascular Diseases|Hyperhomocysteinemia	10	10q11.2	ALOX5	45189634	45261569		Quinzii, C.  et al. 2001	11471199				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDPinfo	240	Hs.89499			Croatian medical journal. 2001 Aug;42(4):458-62	Predictive genetic testing - new possibilities in determination of risk of complex diseases		152390	15168	2	2001	Prospective development of genomic medicine and its use in the study of complex traits will hopefully bring significant benefit to the population and enhance the prevention and therapy of common diseases.		leukotriene inhibitors									
131828	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium	7	7p15.1	NPY	24290333	24298002		Okubo T et al. 2001	11410744				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			KGB	4852	Hs.1832			Alcoholism, clinical and experimental research. 2001 Jun;25(6 Suppl):59S-62S	Polymorphism of the neuropeptide Y gene: an association study with alcohol withdrawal.		162640	4738	1	2001	 Our data suggested that a C to T substitution at the 5671 locus of the NPY gene may be associated with seizure during alcohol withdrawal.	Case:163 male alcoholics with different withdrawal symptoms (93 with delirium tremens, 71 with seizures, 49 with hallucinations):Japan;Control:98 male controls:Japan										
116069	Y	Erythropoietin Induced Hypertension	OTHER	OTH	Hypertension, Renal|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564	p=0.003	Kuriyama S 2001	11675943	T235T. M235T. and M235M			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			TJB	183	Hs.19383			Hypertension research. 2001 Sep;24(5):501-5			106150	355	1	2001												
133595		microvascular dermatoses, diabetes-associated	METABOLIC	MET	Diabetic Angiopathies|Skin Diseases|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Kankova, K.  et al. 2001	11457670				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		Czech Republic	CDC GDPinfo	5891	Hs.104119			Journal of diabetes and its complications. 2001 Jul-Aug;15(4):185-92	Polymorphisms in the RAGE gene influence susceptibility to diabetes-associated microvascular dermatoses in NIDDM.		605762	13451	2	2001	The two novel polymorphisms (1704G/T and 2184A/G) together with the G82S were shown to influence the susceptibility to MD independent of diabetes itself.	Cohort 390 subjects comprising four groups 										
115969	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 2	8	8p12-p11.2	ADRB3	37939672	37943341	Non significant	Vendrell J 1998	10197086	Trp64Arg polymorphism		coding sequence	Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Caucassian		Y Wang	155	Hs.2549			Clinical endocrinology. 1998 Nov;49(5):679-83	Beta 3-adrenoreceptor gene polymorphism and leptin. Lack of relationship in type 2 diabetic patients.		109691	308	1	1998	 The Trp64Arg mutation is not a major determinant of Type 2 diabetes and its microangiopathic complications. Moreover, this mutation was not clinically relevant in leptin regulation.	Case:187; Control:110										
115742		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	10	10q24-q26	ADRB1	115793795	115796657		Johnson, J. A.  et al. 2002	12523655				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDPinfo	153	Hs.642658			Pharmaceutical research. 2002 Dec;19(12):1779-87	Beta-adrenergic receptor polymorphisms:cardiovascular disease associations and pharmacogenetics.		109630	8510	2	2002	Review article											
115861	N	Asthma. atopy	OTHER	OTH	Asthma	5	5q31-q32	ADRB2	148186348	148188381	n	Dewar JC 1997	9275150	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			The Journal of allergy and clinical immunology. 1997 Aug;100(2):261-5			109690	253	1	1997	 The glutamine 27 beta2-adrenoceptor polymorphism appears to contribute to IgE variability in families with asthma. However, it seems that although both amino acid 16 and 27 beta2-adrenoceptor polymorphisms are disease-modifying in subjects with asthma, they do not contribute markedly to the development of the asthmatic phenotype.											
115840	N	obesity	METABOLIC	MET	Obesity, Morbid	5	5q31-q32	ADRB2	148186348	148188381	n	Kortner B et al. 1999	10557032				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KGB	154	Hs.591251			International journal of obesity and related metabolic disorders. 1999 Oct;23(10):1099-100	Lack of association between a human beta-2 adrenoceptor gene polymorphism (gln27glu) and morbid obesity.		109690	232	1	1999	 We find no evidence for a role of the glu27 variant in the beta-2 adrenoceptor gene in the development of morbid obesity.											
115823	N	BHR	OTHER	OTH	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	n	Ulbrecht 2000	10673187	Gly16Arg. Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Germany	KGB	154	Hs.591251			American journal of respiratory and critical care medicine. 2000 Feb;161(2 Pt 1):469-74			109690	215	1	2000												
131263		muscle testing	NORMALVARIATION	NV	Rhabdomyolysis|Genetic Predisposition to Disease	3	3q21	MYLK	124813832	125085839		Clarkson, P. M.  et al. 2005	15817725				Myosin, light polypeptide kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053025			CDC GDPinfo	4638	Hs.556600			Journal of applied physiology (Bethesda, Md :  1985). 2005 Aug;99(2):564-9	ACTN3 and MLCK genotype associations with exertional muscle damage.		600922	23064	2	2005	These results show that variations in genes coding for specific myofibrillar proteins influence phenotypic responses to muscle damaging exercise.	Cohort 157 subjects who performed a standard elbow flexion eccentric exercise protocol 										
115395		pulmonary fibrosis; sarcoidosis	CARDIOVASCULAR	CARD	Sarcoidosis, Pulmonary|Disease Progression|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199			16315782				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDPinfo	59272	Hs.178098			Sarcoidosis, vasculitis, and diffuse lung diseases. 2005 Oct;22(3):195-203	Angiotensin-converting enzyme 2 (ACE2) haplotypes are associated with pulmonary disease phenotypes in sarcoidosis patients		300335	14994	2	2005	 These results suggest that ACE2 might be involved in the progression of pulmonary sarcoidosis which may depend on gender. Subsequent studies using larger groups are needed to confirm these findings.											
115274		kidney transplant complications	IMMUNE	IMM	Renal Artery Obstruction|Atherosclerosis	17	17q23	ACE	58908165	58952935		Ozdemir, F. N.  et al. 2005	16213264				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Turkish	Turkey	CDC GDPinfo	1636	Hs.298469			Transplantation proceedings. 2005 Sep;37(7):2929-32	Angiotensin-converting enzyme and endothelial constitutive nitric oxide synthase polymorphisms in Turkish renal transplant population and possible influence on renal artery atherosclerosis and graft survival.		106180	8368	2	2005	 Renin-angiotensin system gene polymorphism analysis of patients in renal transplantation waiting list may provide information about allograft survival and posttransplant atherosclerotic degeneration at graft vasculature of young transplant recipients.											
114967	Y	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA|Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Chen X et al. 1997	9594210				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Chinese medical journal. 1997 Jul;110(7):526-9	Association of angiotensin-converting enzyme gene insertion/deletion polymorphism with the clinico-pathological manifestations in immunoglobulin A nephropathy patients.		106180	1808	1	1997	 We observed a significant association of the deletion polymorphism of ACE gene with renal insufficiency, hypertension and severe glomerular lesions at biopsy. The deletion allele may play a role, at least to some extent, in the deterioration and progression in IgA nephropathy.											
129845	N	Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q13-q14	LRP1	55808548	55893392	n	Schweer D 2001	11498265	A216V			low density lipoprotein-related protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1		Germany	TJB	4035	Hs.162757			Journal of neuroimmunology. 2001 Aug;118(2):300-3			107770	4336	1	2001		Case:326; Control:290										
125175		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-A	29963507	30085130		Nejentsev, S.  et al. 2000	11118029				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Diabetes. 2000 Dec;49(12):2217-21	Non-class II HLA gene associated with type 1 diabetes maps to the 240-kb region near HLA-B.		142800	17160	2	2000	Our data indicate that an additional gene associated with type 1 diabetes is located in the 240-kb region near HLA-B. We excluded STR MICA polymorphism as a mutation responsible for diabetes association.	Control:181/354 control subjects typed for the DR3/4(0401 genotype (n=181) and typed for the DR3/4(0401) genotpe:(n=354);Case:75/241 type 1 diabetic patients typed for the DR3/4(0401 genotype (n=75) and typed for the DR3/4(0401):genotpe (n=241)										
125539		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Parks, C. G.  et al. 2004	15219382				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Southeastern United States	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Jun;65(6):622-31	Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associationsand interaction with the interleukin-1alpha-889 C/T polymorphism.		146880	11749	2	2004	These findings provide evidence of cytokine gene epistasis in SLE susceptibility.	Case:230 recently diagnosed systemic lupus erythematosus:patients southeastern United States;Control:276 age- and sex-matched controls, randomly selected from driver's license registries		HLA-DR3		TNF-alpha	-308A	IL-1alpha	889C/C	Y		systemic lupus erythematosus
128618	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297		Landi, S.  et al. 2003	12839942				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Spain	CDC GDPinfo	3576	Hs.624			Cancer research. 2003 Jul;63(13):3560-6	Association of common polymorphisms in inflammatory genes interleukin (IL)6, IL8, tumor necrosis factor alpha, NFKB1, and peroxisome proliferator-activated receptor gamma with colorectal cancer.		146930	22610	2	2003	This is the first report that IL6, IL8, and PPARG genes are important in relation to inflammation-related risk of sporadic CRC.	Control:326:controls;Case:377 colorectal cancer patients:Barcelona, Spain										
127182		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	12	12q14	IFNG	66834816	66839788		Socie, G.  et al. 2001	11544434				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation. 2001 Aug;72(4):699-706	Both genetic and clinical factors predict the development of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation		147570	17768	2	2001	 In addition to previously described clinical risk factors, genetic risk factors are independently associated with the risk of developing graft-versus-host disease and may, thus, be considered for the selection of the donor.	Cohort 100 consecutive patients who underwent allogeneic stem cell transplantation from an HLA-identical sibling donor 										
125651		IgA, IgD, IgG, IgM	IMMUNE	IMM	IgA Deficiency|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		De la Concha, E. G.  et al. 2002	12370403				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Journal of immunology (Baltimore, Md :  1950). 2002 Oct;169(8):4637-43	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes.		146880	21829	2	2002	Our results show how, in complex diseases, individuals may be affected for different genetic reasons and a single linkage signal to a region of a chromosome may actually be the result of disease-predisposing alleles in different linked genes in different pedigrees.	Case:182 IgA deficiency patients (and parents and siblings of 100 of these patients);Control:343:controls										
142595	N	human T-cell lymphotropic virus type I associated myelopathy	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Nishimura M et al. 2000	11163081				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor tumor necrosis factor receptors type 1 and 2 lymphotoxin-alpha and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		142857	7960	1	2000			human T lymphotropic virus									
128249		kidney transplant	IMMUNE	IMM	Chronic Disease	4	4q26-q27	IL2	123592075	123597100		Pawlik, A.  et al. 2005	15814282				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplant immunology. 2005 Mar;14(1):49-52	The cytokine gene polymorphisms in patients with chronic kidney graft rejection.		147680	11813	2	2005	The results of present study suggest that the genetically determined low IL-6 production may be the risk factor of chronic allograft nephropathy development.	Case:62 patients with chronic allograft nephropathy;Control:64 patients with long-term stable gaft function										
129946	Y	chronic immune thrombocytopenic purpura.	IMMUNE	IMM	Purpura, Thrombocytopenic, Idiopathic|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Satoh T 2004	15009068	252 G/A			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese		KGB	4049	Hs.36			British journal of haematology. 2004 Mar;124(6):796-801	Single nucleotide polymorphisms of the inflammatory cytokine genes in adults with chronic immune thrombocytopenic purpura.		153440	4380	1	2004												
140408		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Body Weight	7	7p21	IL6	22733322	22738141		Kubaszek A 2003	12829659			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Diabetes. 2003 Jul;52(7):1872-6	Promoter polymorphisms of the TNF-alpha (G-308A) and IL-6 (C-174G) genes predict the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study.		147620	7250	1	2003	We conclude that  the -308A allele of the promoter polymorphism (G-308A) of the TNF-alpha gene is a predictor for the conversion from IGT to type 2 diabetes. Furthermore, this polymorphism seems to have a gene-gene interaction with the C-174C genotype of the IL-6 gene.											
136560	N	preterm delivery	OTHER	OTH	Fetal Membranes, Premature Rupture|Obstetric Labor, Premature|Birth Weight	6	6p21.3	TNF	31651328	31654091	n	Dizon-Townson DS et al. 1997	9369824			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			American journal of obstetrics and gynecology. 1997 Oct;177(4):810-3	A promoter mutation that increases transcription of the tumor necrosis factor-alpha gene is not associated with preterm delivery.		191160	6036	1	1997	The frequency of this tumor necrosis factor-alpha promoter mutation, TNF T2, is not increased in either women or fetuses delivered at < 37 weeks' gestation. Basal levels of tumor necrosis factor-alpha are unlikely to affect a woman's risk of preterm delivery. Tumor necrosis factor-alpha variants should not be used as a predictive test for preterm delivery.											
136512	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	6	6p21.3	TNF	31651328	31654091	n	Buckova D 2002	12530118	TNF-alpha*2			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Czech population	Czech Republic	KEW	7124	Hs.241570			Journal of investigational allergology & clinical immunology. 2002 ;12(3):192-7			191160	5988	1	2002	We conclude that  these polymorphisms of the TNF genes are unlikely to contribute to atopic disease risk in our population. Significant associations that have been reported in other studies may reflect the genetic heterogeneity of these complex diseases.	Case:151; Control:155										
137007	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864	n	Tsuchiya N et al.2001	11607787	M196R			Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian	United States	Tsuchiya N	7133	Hs.256278			Genes and immunity. 2001 Oct;2(6):317-22			191191	6121	1	2001												
136290	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR10	38450646	38460984		Sun, J.  et al. 2005	15812078				Toll-like receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030956.2		Sweden	CDC GDPinfo	81793	Hs.120551			Journal of the National Cancer Institute. 2005 Apr;97(7):525-32	Sequence variants in Toll-like receptor gene cluster (TLR6-TLR1-TLR10) and prostate cancer risk.		606270	23653	2	2005	 The observed multiple associated SNPs at the TLR6-TLR1-TLR10 gene cluster were dependent and suggest the presence of a founder prostate cancer risk variant on this haplotype background. The TLR6-TLR1-TLR10 gene cluster may play a role in prostate cancer risk, although further functional studies are needed to pinpoint the disease-associated variants in this gene cluster.	Case:1,383 prostate cancer cases:Sweden;Control:780:controls										
136414		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Brett, P. M.  et al. 2005	16304445				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Journal of dental research. 2005 Dec;84(12):1149-53	Functional Gene Polymorphisms in Aggressive and Chronic Periodontitis.		603030	26665	2	2005												
140513		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Brett, P. M.  et al. 2005	16304445				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Journal of dental research. 2005 Dec;84(12):1149-53	Functional Gene Polymorphisms in Aggressive and Chronic Periodontitis.		147620	25088	2	2005												
136116		keloid disease	OTHER	OTH	Keloid|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Bayat, A.  et al. 2004	15009106				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDPinfo	7042	Hs.133379			Experimental dermatology. 2004 Feb;13(2):120-4	Genetic susceptibility to keloid disease:transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease.		190220	23634	2	2004	To our knowledge, this is the first report of a case-control association study with KD and TGF-beta receptor gene polymorphisms.	Control:181:controls;Case:92 keloid disease cases										
135991		bone mineral density	METABOLIC	MET	Bone Diseases, Metabolic|Osteoporosis|Osteoporosis, Postmenopausal	19	19q13.2	TGFB1	46528490	46551656		Park BL 2003	12938093				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Human mutation. 2003 Sep;22(3):257-8	Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density.		190180	5814	1	2003												
135912	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21-p12	TFAP2B	50894397	50923285		Maeda, S.  et al. 2005	15940393				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2		Japan|Great Britain	CDC GDPinfo	7021	Hs.33102			Journal of human genetics. 2005 ;50(6):283-92	Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus.		601601	19806	2	2005												
135813	N	cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	X	Xq22.1	TCEAL1	102770303	102772532		Bhattacharya, P.  et al. 2005	16054204				Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2	Indian	India	CDC GDPinfo	9338	Hs.95243			Gynecologic oncology. 2005 Oct;99(1):176-82	Lack of evidence that proline homozygosity at codon 72 of p53 and rare arginine allele at codon 31 of p21, jointly mediate cervical cancer susceptibility among Indian women.		300237	14453	2	2005	 p53 and p21 act in series in mediating cell cycle arrest. However, the two risk factors, p53 proline homozygosity and p21 arginine allele, although part of a common causal pathway, appear to act in a mutually exclusive manner.											
135703		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Zhang, S. L.  et al. 2002	12047361				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		France	CDC GDPinfo	6890	Hs.352018			European journal of immunogenetics. 2002 Jun;29(3):241-9	TAP1 and TAP2 gene polymorphism in rheumatoid arthritis in a population in eastern France.		170260	23580	2	2002	Examination of TAP1 and TAP2 gene polymorphisms in RA patients revealed an association between a particular amino acid residue, namely Thr565 in the TAP2 gene, and RA. This association was found to be weak and did not seem to be a predictor for the severity of the disease.	Control:100 healthy controls;Case:138 Caucasian rheumatoid arthritis patients eastern France										
141827	N	lung cancer; colorectal cancer; kidney cancer; liver cancer; oral cancer; cervical cancer; gastrointestinal cancer	CANCER	CAN	Neoplasms|Colonic Neoplasms|Stomach Neoplasms|Mouth Neoplasms|Lung Neoplasms|Uterine Cervical Neoplasms	16	16p12.1	SULT1A2	28510766	28515892		Peng, C. T.  et al. 2003	12469224				sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001054.2	Taiwanese	Taiwan	CDC GDPinfo	6799	Hs.546304			International journal of molecular medicine. 2003 Jan;11(1):85-9	The relationship among the polymorphisms of SULT1A1, 1A2 and different types of cancers in Taiwanese.		601292	23571	2	2003	No statistical significance was found for these cancer patients after comparison with normal controls (4.0%) for the allelic frequencies of SULT1A1*2 and SULT1A2*2.	Case hepatic, colon, lung, oral, gastric, renal and cervical cancer patients:Taiwan;Control normal controls										
135574		Peutz-Jeghers syndrome	DEVELOPMENTAL	DEV	Breast Neoplasms|Gastrointestinal Neoplasms|Peutz-Jeghers Syndrome|Genetic Predisposition to Disease	19	19p13.3	STK11	1156797	1179434		Lim W 2003	12865922				Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			KGB	6794	Hs.515005			British journal of cancer. 2003 Jul;89(2):308-13	Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.		602216	5669	1	2003												
127721	Y	nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Hypersensitivity|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Acharya, B.  et al. 2005	15687724				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2		Indonesia	CDC GDPinfo	3596	Hs.845			American journal of nephrology. 2005 Jan-Feb;25(1):30-5	Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.		147683	14099	2	2005	 The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS.	Control:61 controls with neigher allergic nor renal disease;Case:84 Indonesian children with minimal change nephrotic:syndrome										
138178	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Liu, G.  et al. 2004	15534883				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			Cancer. 2004 Dec;101(12):2802-8	The SOD2 Val/Val genotype enhances the risk of nonsmall cell lung carcinoma by p53 and XRCC1 polymorphisms.		194360	25797	2	2004	 The SOD2 Val/Val genotype may increase the risk of NSCLC carried by XRCC1 and p53 polymorphisms, particularly for adenocarcinoma.	Control:1,233 healthy controls;Case:935 Caucasian patients with nonsmall cell lung:carcinoma										
135264		insulin; diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q25.3	SOCS3	73864456	73867753		Gylvin, T.  et al. 2004	15249995				Suppressor of cytokine signaling 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003955.3			CDC GDPinfo	9021	Hs.527973			Diabetologia. 2004 Jul;47(7):1273-7	Mutation analysis of suppressor of cytokine signalling 3, a candidate gene in Type 1 diabetes and insulin sensitivity.		604176	19652	2	2004	Homozygosity for the A-allele of the C -920-->A promoter polymorphism of the SOCS3 gene may be associated with increased whole-body insulin sensitivity, but deserves further investigation.	Cohort 1,097 individuals from 250 families with Type 1 diabetes Cohort 212 glucose-tolerant first-degree relatives of Type 2 diabetic patients Cohort 370 population-based young, healthy subjects who were unrelated 										
135215		breast cancer; colorectal cancer; liver cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	1	1q44	SMYD3	243979266	244737237		Tsuge, M.  et al. 2005	16155568				SET and MYND domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022743.1			CDC GDPinfo	64754	Hs.567571			Nature genetics. 2005 Oct;37(10):1104-7	A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5' flanking region of SMYD3 is a risk factor for human cancers.		608783	13992	2	2005												
125639		Chagas Disease	INFECTION	INF	Chagas Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Moreno, M.  et al. 2004	15191519				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		146880	19457	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
141045		leukemia, adult acute lymphocytic	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Skibola, C. F.  et al. 2002	11986237				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Blood. 2002 May;99(10):3786-91	Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.		607093	23001	2	2002	This study suggests an important role for uracil misincorporation and resultant chromosomal damage in the pathogenesis of ALL, and that genetic interactions involving low penetrance polymorphisms in folate-metabolizing genes may increase ALL risk.											
134245	Y	obesity	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Thinness	7	7q21.3-q22	SERPINE1	100557104	100568431		Hoffstedt, J.  et al. 2002	12032637	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Diabetologia. 2002 Apr;45(4):584-7	The common -675 4G/5G polymorphism in the plasminogen activator inhibitor -1 gene is strongly associated with obesity.		173360	13635	2	2002	Thus, the common -675 4G/5G polymorphism in the PAI-1 gene is strongly linked to obesity and a markedly increased risk for obesity is associated with the 4G allele in its homozygous form.	Control:188 lean Scandinavian subjects;Case:70/247 overweight (n=70,BMI 25-30 kg/m(2)) and obese (n=247) otherwise healthy Scandinavian subjects										
134219		Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	7	7q21.3-q22	PAI1	100561579	100569251		Buc D 2002	11972486	4G/5G			serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX649164		Czech Republic	KCB	5054	Hs.414795			Allergy. 2002 May;57(5):446-8			173360	4869	1	2002	 Our findings support the idea that the 4G allele of the 4G/5G polymorphism in the PAI-1 gene may be a risk factor for IgE-mediated asthma and allergic diseases.											
134108	Y	heart disease, ischemic; cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Myocardial Ischemia|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Dahl, M.  et al. 2003	12578879				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Denmark	CDC GDPinfo	5265	Hs.525557			Circulation. 2003 Feb;107(5):747-52	Blood pressure, risk of ischemic cerebrovascular and ischemic heart disease, and longevity in alpha(1)-antitrypsin deficiency: the CopenhagenCity Heart Study		107400	19359	2	2003	 ZZ alpha(1)-antitrypsin deficiency and MZ intermediate deficiency in the context of IHD are associated with reduced blood pressure, and MZ is associated with reduced risk of ICVD and IHD. Because MZ heterozygosity was associated with increased age, MZ heterozygosity could be a beneficial condition.	Case:1131/2221 Danish patients with ischemic cerebrovascular disease (n=1131) and ischemic heart disease:(n=2221);Control:7963 control subjects from the adult general population of Denmark										
134077		COPD	OTHER	OTH	Lung Diseases, Obstructive|alpha 1-Antitrypsin Deficiency|Disease Susceptibility	14	14q32.1	SERPINA1	93914450	93926782		Kalsheker NA 1990	1980238				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			KGB	5265	Hs.525557			Disease markers. 1990 May-Jun;8(3):151-7			107400	4964	1	1990												
134047		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	1	1q23-q25	SELL	167926431	167947461		Takei, T.  et al. 2002	11828340				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2		Japan	CDC GDPinfo	6402	Hs.82848			American journal of human genetics. 2002 Mar;70(3):781-6	Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy.		153240	23369	2	2002	Our results suggest that these eight SNPs in selectin genes may be useful for screening populations susceptible to the IgAN phenotype that involves interstitial infiltration.	Case Japanese immunoglobulin A nephropathy patients;Control not specified in abstract										
138368		EKG, abnormal	CARDIOVASCULAR	CARD	Syncope|Heart Defects, Congenital|Death, Sudden, Cardiac|Long QT Syndrome|Heart Arrest|Genetic Predisposition to Disease	4	4q25-q27	ANK2	113958687	114524336		Khositseth, A.  et al. 2004	15851119				Ankyrin 2, neuronal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001148.3			CDC GDPinfo	287	Hs.620557			Heart rhythm. 2004 May;1(1):60-4	Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.		106410	15183	2	2004	 There is a relatively gene-specific molecular basis underlying cardiac events during the postpartum period in LQTS. Along with previous gene-specific associations involving swimming and LQT1 as well as auditory triggers and LQT2, this association between postpartum cardiac events and LQT2 can facilitate strategic genotyping.	Cohort 388 unrelated patients (260 females, average age at diagnosis, 23 years, and average QTc, 482 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing 										
129246		long QT syndrome	CARDIOVASCULAR	CARD	Syncope|Arrhythmias, Cardiac|Death, Sudden, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac	7	7q35-q36	KCNH2	150272981	150305947		Schwartz, P. J.  et al. 2001	11136691				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDPinfo	3757	Hs.438823			Circulation. 2001 Jan;103(1):89-95	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers forlife-threatening arrhythmias.		152427	19322	2	2001	 Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches.	Cohort 670 LQTS patients of known genotype (LQT1, n=371; LQT2, n=234; LQT3, n=65) who had symptoms (syncope, cardiac arrest, sudden death) 	emotion physical activity sleep/rest									
133892		asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Mansur AH et al. 2002	12100044				secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KGB	7356	Hs.523732			Clinical and experimental allergy. 2002 Jul;32(7):994-9	An association study between the Clara cell secretory protein CC16 A38G polymorphism and asthma phenotypes.		192020	6354	1	2002	 CC16 polymorphism A38G does not influence the predisposition to asthma in this sample.											
133903		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Kim, Y. S.  et al. 2001	11434507				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			Pharmacogenetics. 2001 Jun;11(4):299-305	Uteroglobin gene polymorphisms affect the progression of immunoglobulin A nephropathy by modulating the level of uteroglobin expression.		192020	13539	2	2001	Our results suggest that polymorphism at the 5' UTR region of UG exon 1 is an important marker for the progression of IgAN and may modulate the level of protein expression.	Case:111 patients with immunoglobulin (Ig)A nephropathy;Control:60 healthy control subjects										
141740	Y	amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Bakkaloglu, A.  et al. 2004	15170927				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2	Turkish	Turkey	CDC GDPinfo	6288	Hs.632144			The Journal of rheumatology. 2004 Jun;31(6):1139-42	Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population.		104750	13531	2	2004	 SAA1a/a genotype is one genetic factor that confers a significant risk for amyloidosis in the Turkish FMF population. Neither the SAA1 nor SAA2 genotypes had a significant effect on SAA level.	Cohort 74 patients with Familial Mediterranean Fever (39 female, 35 male; median age 11.5 yrs, range 1.0-23.0) 										
133742		diabetes, type 2; insulin sensitivity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	19	19p13.2	RETN	7639971	7641340		Wang, H.  et al. 2002	12050208				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DN998574			CDC GDPinfo	56729	Hs.283091			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2520-4	Human resistin gene: molecular scanning andevaluation of association with insulin sensitivity and type 2 diabetes in Caucasians.		605565	19287	2	2002	The three common SNPs showed statistical significance as determinants of insulin sensitivity index (P < 0.01) in interaction with body mass index. Noncoding SNPs in the resistin gene may influence insulin sensitivity in interaction with obesity, but this finding will need to be confirmed in other populations.	Cohort 44 subjects with type 2 diabetes 										
133735	Y	diabetes, type 2; cholesterol, LDL; glucose tolerance; blood pressure, arterial; glycosylated hemoglobin A1	METABOLIC	MET	Cerebrovascular Disorders|Diabetes Mellitus, Type 2	19	19p13.2	RETN	7639971	7641340		Kunnari, A.  et al. 2005	15842513				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Finnish	Finland	CDC GDPinfo	56729	Hs.283091			Diabetic medicine. 2005 May;22(5):583-9	Resistin polymorphisms are associated with cerebrovascular disease in Finnish Type 2 diabetic patients.		605565	13494	2	2005	 The results suggest that resistin may play a role in atherogenesis probably through increasing insulin resistance.	Case:258 Finnish type 2 diabetics;Control:494:controls										
133733	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19p13.2	RETN	7639971	7641340		Osawa, H.  et al. 2004	15338456	(-420 )		promoter	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2		Japan	CDC GDPinfo	56729	Hs.283091			American journal of human genetics. 2004 Oct;75(4):678-86	The G/G Genotype of a Resistin Single-Nucleotide Polymorphism at -420 Increases Type 2 Diabetes Mellitus Susceptibility by Inducing Promoter Activity through Specific Binding of Sp1/3		605565	13492	2	2004	Consistent with these findings, fasting serum resistin levels were higher in subjects with T2DM who carried the -420G/G genotype. Therefore, the specific recognition of -420G by Sp1/3 increases RETN promoter activity, leading to enhanced serum resistin levels, thereby inducing human T2DM.	Case:397 type 2 diabetic cases;Control:406:controls										
133647	Y	macular and peripheral retinal degeneration	VISION	VIS	Retinal Degeneration|Macular Degeneration|Chromosome Deletion|	6	6p21.2-p12.3	RDS	42772318	42798287		Gorin MB et al. 1995	7862413				Retinal degeneration, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000322.2			KGB	5961	Hs.532150			Ophthalmology. 1995 Feb;102(2):246-55	A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.		179605	5255	1	1995	 The authors identified a novel peripherin/RDS gene mutation associated with autosomal dominant retinal degeneration in patients from three different families. The largest family showed a broad variability in the expressivity of the mutation. The overlap of clinical features with those of age-related maculopathy highlights the need to consider photoreceptor-specific genes as potential factors in the etiology of the latter condition.											
133612	Y	nephropathy in diabetes mellitus	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	AGER	32256723	32260001		Kankova, K.  et al. 2005	15790669			5'promoter	Receptor of Advanced Glycation End products	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasians		CDC GDPinfo	177	Hs.642645			Nephrology, dialysis, transplantation. 2005 Jun;20(6):1093-102	Haplotype analysis of the RAGE gene: identificationof a haplotype marker for diabetic nephropathy in type 2 diabetes mellitus.		600214	19217	2	2005	 The RAGE(2) haplotype is associated with DN in type 2 diabetics and with earlier DN onset and, thus, can be regarded a marker for DN.	Case diabeteics with nephrophathy; Control: diabetics without nephropathy and non-diabetics										
133555	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q35-q36.1	PTPRN	219862588	219882387		Nishino, M.  et al. 2001	11334676				Protein tyrosine phosphatase, receptor type, N	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002846.2	Japanese	Japan	CDC GDPinfo	5798	Hs.89655			Human immunology. 2001 May;62(5):518-22	Polymorphism in gene for islet autoantigen, IA-2, and type 1 diabetes in Japanese subjects.		601773	13437	2	2001	There was no significant difference in allele frequency of the IA-2 gene polymorphism between patients with and without autoantibody to IA-2. In conclusion, IA-2 gene polymorphism is not associated with either susceptibility to, or heterogeneity in type 1 diabetes in Japanese subjects.	Cohort 276 type 1 diabetes subjects Japan 										
133544	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	PTPRC	196874759	196993168		Thude, H.  et al. 2004	15548260				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838		Germany	CDC GDPinfo	5788	Hs.192039			European journal of immunogenetics. 2004 Dec;31(6):245-7	A transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77 C to G) is not associated with the development of type 1 diabetes mellitus in a German population.		151460	19200	2	2004	The C to G transversion does not seem to be associated with susceptibility for T1D.	Case:165 type 1 diabetic patients;Control:220:controls										
133531		autoimmune nephritis	IMMUNE	IMM	Lupus Nephritis|Kidney Failure|Proteinuria|	1	1q31-q32	CD45	196874759	196993168		Majeti R 2000	11163182	glutamate 613 to arginine			protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838			KGB	5788	Hs.192039			Cell. 2000 Dec;103(7):1059-70			151460	5239	1	2000												
133480	Y	Rheumatoid Arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Multiple Sclerosis|Psoriasis|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857	0.00066	Begovich AB 2004	15934099	R620W: the minor allele (T) of a missense SNP (R620W [rs2476601, 1858CT]) in the protein tyrosine phosphatase non-receptor type 22 gene (PTPN22)		coding sequence	Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	white multiplex families from throughout the United States	Great Britain	KGB	26191	Hs.535276			Arthritis and rheumatism. 2005 Jun;52(6):1694-9	A Missense Single-Nucleotide Polymorphism in a Gene Encoding a Protein Tyrosine Phosphatase (PTPN22) Is Associated with Rheumatoid Arthritis.	rs2476601	600716	6730	1	2004	 We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases.	Control:595 healthy controls;Case:886/661/279/455/379 rheumatoid arthritis (n=886), juvenile idiopathic:arthritis (n=661), psoriasis (n=279), psoriatic arthritis (n=455), and multiple sclerosis (n=379):patients										
133325	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Di Natale, M.  et al. 2003	12770698				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Italian	Italy	CDC GDPinfo	5664	Hs.25363			Neuroscience letters. 2003 Jun;343(3):210-2	Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.		600759	13364	2	2003	The current study does not support the notion that the polymorphism in the PS2 gene constitutes a risk factor for either late-onset or early-onset AD, which means that other genetic factors play a role in the development of AD in the Italian population.	Control:160 normal controls matched by age, gender and:ethnicity;Case:200 sporadic Alzheimer's disease cases:Italy										
133236		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Fan JB et al. 2003	12581843	T1945C			proline dehydrogenase (oxidase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2	Chinese	China	KGB	5625	Hs.517352			Neuroscience letters. 2003 Mar;338(3):252-4	A family-based association study of T1945C polymorphism in the proline dehydrogenase gene and schizophrenia in the Chinese population.		606810	5152	1	2003												
133160		multiple sclerosis; lupus erythematosus	IMMUNE	IMM	Multiple Sclerosis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p22.2-p21.3	PRL	22395458	22411061		Mellai, M.  et al. 2003	12559630				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2		Italy	CDC GDPinfo	5617	Hs.1905			Human immunology. 2003 Feb;64(2):274-84	Prolactin and prolactin receptor gene polymorphisms in multiple sclerosis and systemic lupus erythematosus		176760	13329	2	2003	No statistically significant difference in the allele distribution was observed for any of the tested variations.	Case multiple sclerosis and systemic lupus erythematosus:patients;Control:controls										
133139	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q22-q23.2	PRKCA	61729387	62237324	p= 0.0007	Saarela 2006	16596167			other	Protein kinase C, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002737.2	Finnish	Canada|Finland	KGB	5578	Hs.531704			PLoS genetics. 2006 Mar;2(3):e42	PRKCA and multiple sclerosis: association in two independent populations.		176960	5120	1	2006	Initial functional relevance for disease predisposition was suggested by the expression analysis: The transcript levels of PRKCA showed correlation with the copy number of the Finnish and Canadian "risk" haplotypes in CD4-negative mononuclear cells of five Finnish multiplex families and in lymphoblast cell lines of 11 Centre d'Etude du Polymorphisme Humain (CEPH) individuals of European origin.											
133004	N	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855	n	Paltoo D 2003	12609711				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Finnish male smokers	Finland	KEW	5468	Hs.162646			Cancer letters. 2003 Feb;191(1):67-74			601487	5080	1	2003		Case:193; Control:188										
132955	Y	retinopathy, diabetic; albumin excretion rate	OTHER	OTH	Diabetic Nephropathies|Diabetic Angiopathies|Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Kao, Y.  et al. 2002	11918623				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			Diabetic medicine. 2002 Mar;19(3):212-5	Paraoxonase gene cluster is a genetic marker for early microvascular complications in type 1 diabetes.		602447	23251	2	2002	 This study supports the hypothesis that diabetic microangiopathy is genetically heterogeneous. PON1 Leu/Leu increases the risk for retinopathy and PON2 Ser/Ser increases the risk for microalbuminuria.	Cohort 372 adolescents with type 1 diabetes 										
132841		pancreatitis; pancreatitis, alcoholic; pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q21.3	PON1	94764923	94791780		Verlaan, M.  et al. 2005	16035730				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Molecular diagnosis. 2005 ;9(1):15-Sep	Paraoxonase 1-192Q allele is a risk factor for idiopathic chronic pancreatitis.		168820	13251	2	2005	 These data suggest that the PON1-192Q allele, resulting in partly deficient antioxidant and detoxification activity of this enzyme, might be a risk factor for idiopathic CP in Caucasians.											
132759		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Ruiz J1995	7564671				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			Y Wang	5444	Hs.370995	Complications		Lancet. 1995 Sep;346(8979):869-72	Gln-Arg192 polymorphism of paraoxonase and coronary heart disease in type 2 diabetes.		168820	5049	1	1995												
132700		obesity	METABOLIC	MET	Obesity|Weight Loss	17	17q21-q22	PNMT	35078032	35080254		Peters, W. R.  et al. 2003	12634439				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDPinfo	5409	Hs.1892			Obesity research. 2003 Mar;11(3):415-9	Phenylethanolamine N-methyltransferase G-148A genetic variant and weight loss in obese women.		171190	18960	2	2003	The homozygosity/heterozygosity of the PNMT gene was highly predictive of significant weight loss with sibutramine during the first 3 months, which highlights the need for specific pharmacotherapy. The early weight-loss success of those subjects who were homozygous for PNMT may have motivated and selected those that would make further dietary changes, which then augmented their final weight loss.	Cohort 149 women, ages 45 to 65 with a body mass index of >30kg/m(2) 	diet physical activity sibutramine									
131050		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Southey, M. C.  et al. 2005	16116158				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDPinfo	4436	Hs.156519			Journal of clinical oncology. 2005 Sep;23(27):6524-32	Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.		120435	22957	2	2005	 Tumor IHC analysis of four MMR proteins and MSI testing provide a highly sensitive strategy for identifying MMR gene mutation-carrying, early-onset colorectal cancer patients, half of whom would have been missed using Amsterdam Criteria alone. Tumor-based approaches for triaging early-onset colorectal cancer patients for MMR gene mutation testing, irrespective of family history, appear to be an efficient screening strategy for HNPCC.											
130575		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Southey, M. C.  et al. 2005	16116158				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDPinfo	4292	Hs.195364			Journal of clinical oncology. 2005 Sep;23(27):6524-32	Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.		120436	18293	2	2005	 Tumor IHC analysis of four MMR proteins and MSI testing provide a highly sensitive strategy for identifying MMR gene mutation-carrying, early-onset colorectal cancer patients, half of whom would have been missed using Amsterdam Criteria alone. Tumor-based approaches for triaging early-onset colorectal cancer patients for MMR gene mutation testing, irrespective of family history, appear to be an efficient screening strategy for HNPCC.											
132667	Y	Colorectal Cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	PLD2	4657391	4673694		Yamada Y 2003	12601529	T allele			Phospholipase D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002663.2	Japanese	Japan	KEW	5338	Hs.104519			Journal of molecular medicine (Berlin, Germany). 2003 Feb;81(2):126-31	Association of a polymorphism of the phospholipase D2 gene with the prevalence of colorectal cancer.		602384	5006	1	2003	These results suggest that the phospholipase D(2) gene is a susceptibility locus for colorectal cancer in Japanese individuals, although a functional effect of the 1814C-->T (Thr577Ile) polymorphism was not detected.	Case individuals with colorectal cancer;Control:controls										
132543		late-onset airflow	OTHER	OTH	Asthma|Lung Diseases, Obstructive|Pulmonary Disease, Chronic Obstructive|Eczema	13	13q14.2	PHF11	48967801	49001118		Ruse CE 2003	12919239				PHD finger protein 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040443.1	unknown		KGB	51131	Hs.369039			Journal of the American Geriatrics Society. 2003 Sep;51(9):1265-9	Associations between polymorphisms of the high-affinity immunoglobulin E receptor and late-onset airflow obstruction in older populations.		607796	6761	1	2003	 Serum IgE levels, but not the high-affinity IgE receptor polymorphisms, were associated with late-onset airflow obstruction, suggesting that interaction between environmental and genetic factors controlling serum IgE levels and disease pathogenesis may differ between early- and late-onset airflow obstruction phenotypes.											
132522	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	11	11q22-q23	PGR	100414312	100506465		Ho, H. P.  et al. 2004	15219637				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			Psychoneuroendocrinology. 2004 Oct;29(9):1138-41	Association between a functional polymorphism in the progesterone receptor gene and panic disorder in women.		607311	13110	2	2004	In conclusion, these data suggest that the G331A polymorphism in the progesterone receptor gene may influence the risk for panic disorder in women.	Control:452:controls;Case:72 patients with panic disorder										
132322		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Djarmati, A.  et al. 2004	15108293				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		Yugoslavia	CDC GDPinfo	5071	Hs.132954			Human mutation. 2004 May;23(5):525	Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkinmutation frequency depends on ethnic origin of patients.		602544	18835	2	2004	Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies.	Cohort 75 Servian early-onset Parkinson's disease patients 										
132327	Y	leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Mira, M. T.  et al. 2004	14737177				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1		Brazil|Vietnam	CDC GDPinfo	5071	Hs.132954			Nature. 2004 Feb;427(6975):636-40	Susceptibility to leprosy is associated with PARK2 and PACRG		602544	23203	2	2004	Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.	Control:controls;Case Leprosy cases:Brazil										
132248	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.13	PADI4	17507278	17563082		Harney, S. M.  et al. 2005	15814578				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDPinfo	23569	Hs.522969			Rheumatology (Oxford, England). 2005 Jul;44(7):869-72	Genetic and genomic studies of PADI4 in rheumatoid arthritis.		605347	18798	2	2005	 PADI4 is significantly overexpressed in the blood of RA patients but genetic variation within PADI4 is not a major risk factor for RA in Caucasians.	Control:428:controls;Case:439 rheumatoid arthritis cases:UK										
138165		cervical cancer	CANCER	CAN	Carcinoma, Adenosquamous|Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Niwa, Y.  et al. 2005	15990162				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Japanese	Japan	CDC GDPinfo	7515	Hs.98493			Gynecologic oncology. 2005 Oct;99(1):43-9	Association of XRCC1 Arg399Gln and OGG1 Ser326Cys polymorphisms with the risk of cervical cancer in Japanese subjects.		194360	23930	2	2005	 This is the first report that the XRCC1 Arg399Gln polymorphism might be important in relation to the risk of adenocarcinoma/adenosquamous carcinoma of the cervix.											
132101		pterygium	VISION	VIS	Pterygium|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Kau, H. C.  et al. 2004	14716324				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Chinese		CDC GDPinfo	4968	Hs.380271			Eye (London, England). 2004 Jun;18(6):635-9	Genetic polymorphism of hOGG1 and risk of pterygium in Chinese		601982	12998	2	2004	 Our findings suggest that the 1245C --> G transition in exon 7 of the hOGG1 gene, which results in Ser326Cys substitution of the enzyme, might play a role in the susceptibility of humans to pterygium.	Case:70 pterygium patients;Control:86:controls										
132093		hepatocellular carcinoma	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|DNA Damage	3	3p26.2	OGG1	9765704	9783342		Peng T 2003	14562375				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		China	KGB	4968	Hs.380271			World journal of gastroenterology. 2003 Oct;9(10):2186-93	Oxidative DNA damage in peripheral leukocytes and its association with expression and polymorphisms of hOGG1: a study of adolescents in a high risk region for hepatocellular carcinoma in China.		601982	4802	1	2003	 This is the first report using flow-cytometry to simultaneously quantify both the DNA oxidative damage and its repairing enzyme hOGG1. The results provide new insights towards a better understanding of the mechanisms of oxidative stress in a population highly susceptible to hepatocarcinogenesis.											
132066	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7p22	NUDT1	2248382	2257306	n	Satoh J et al. 2000	11136354	A valine to methionine polymorphism at codon 83			nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			KGB	4521	Hs.534331			European journal of neurology. 2000 Nov;7(6):673-7	A valine to methionine polymorphism at codon 83 in the 8-oxo-dGTPase gene MTH1 is not associated with sporadic Parkinson's disease.		600312	4600	1	2000												
132003	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Le WD et al. 2003	12496759				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			KGB	4929	Hs.563344			Nature genetics. 2003 Jan;33(1):85-9	Mutations in NR4A2 associated with familial Parkinson disease.		601828	4793	1	2003	These data suggest that mutations in NR4A2 can cause dopaminergic dysfunction, associated with Parkinson disease.	Case:201 individuals affected with Parkinson's disease;Control:221 age-matched unaffected controls										
131975		body mass; obesity	NORMALVARIATION	NV	Cardiovascular Diseases|Obesity|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Syed, A. A.  et al. 2004	14715855				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		Asia|Great Britain	CDC GDPinfo	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):232-5	Low Prevalence of the N363S Polymorphism of the Glucocorticoid Receptor in South Asians Living in the United Kingdom		138040	12960	2	2004	Therefore, the N363S polymorphism is unlikely to be an important factor in obesity and/or dysmetabolic traits in people of South Asian origin living in the United Kingdom.	Cohort 142/153 males (n=142) and females (n=153) UK 										
131970	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q31	NR3C1	142637688	142795270		Ikeda, Y.  et al. 2001	11873873			promoter	Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			Endocrine journal. 2001 Dec;48(6):723-6	A polymorphism in the promoter region of the glucocorticoid receptor gene is associated with its transcriptional activity.		138040	12954	2	2001	There was no difference in the allelic frequency between normal and type 2 diabetic subjects	Case type 2 diabetics;Control normal subject										
131795		diabetes, type 2; hypertension; diabetes, type 1; albuminuria	UNKNOWN	UNK	Hypertension, Renal|Albuminuria|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Nannipieri, M.  et al. 2001	11408388				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDPinfo	4878	Hs.75640			Hypertension. 2001 Jun;37(6):1416-22	Polymorphisms in the hANP (human atrial natriuretic peptide) gene, albuminuria, and hypertension.		108780	12913	2	2001	We conclude that  the mutated genotypes of the ScaI polymorphism are negatively associated with overt nephropathy, whereas the mutated genotypes of BstXI polymorphism are positively associated with microalbuminuria. hANP gene variants may exert a protective effect against the development and progression of kidney damage in diabetes.	Case type 1 and type 2 diabetic patients, nondiabetic subjects with essential hypertension;Control nondiabetic normotensive control subjects										
131763		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	NOTCH4	32270597	32299822		Kochi, Y.  et al. 2004	14730600				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	Japanese	Japan	CDC GDPinfo	4855	Hs.436100			Arthritis and rheumatism. 2004 Jan;50(1):63-71	Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences		164951	26481	2	2004	 These findings suggest that 1 or more other loci besides the HLA-DRB1 or other DRB1 (non-shared epitope, non-*0901) alleles are involved in RA susceptibility/protection.	Control:1,032:controls;Case:828 patients with rheumatoid arthritis										
131557	Y	intestinal neuronal dysplasia type B (IND B)	OTHER	OTH	Neurofibromatosis 1|Intestinal Diseases|Translocation, Genetic|Facies	17	17q11.2	NF1	26446120	26728821		Bahuau M et al. 2000	10712107				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Journal of medical genetics. 2000 Feb;37(2):146-50	Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)		162200	4676	1	2000												
131549	N	diabetes, type 2; diabetes, type 1	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	10	10q21.3	NEUROG3	71001796	71003128		Jensen, J. N.  et al. 2001	11206403				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Danish	Denmark	CDC GDPinfo	50674	Hs.532682			Diabetologia. 2001 Jan;44(1):123-6	Polymorphisms in the neurogenin 3 gene (NEUROG) and their relation to altered insulin secretion and diabetes in the Danish Caucasian population		604882	12684	2	2001	Genetic variability in NEUROG3 is not associated with dominant Type I diabetes, MODY, Type II diabetes or changes in insulin secretion in the Danish Caucasians examined subjects.	Control:217 glucose-tolerant control subjects;Case:377 Danish Caucasian diabetic patients										
131360		Bladder Cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Inatomi H 1999	10510890	NAT2 mutant type alleles (M1. M2. and M3)			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese	Japan	TJB	10	Hs.2			International journal of urology. 1999 Sep;6(9):446-54			243400	27	1	1999	 It was demonstrated that the NAT2 slow acetylation genotype is an important genetic determinant for bladder cancer in a Japanese population.	Case:85; Control:146										
140965	Y	esophageal cancer; gastric cardia cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Folic Acid Deficiency|Vitamin B 12 Deficiency	1	1p36.3	MTHFR	11768373	11788702		Stolzenberg-Solomon, R. Z.  et al. 2003	14652285				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese	China	CDC GDPinfo	4524	Hs.214142			Cancer epidemiology, biomarkers & prevention. 2003 Nov;12(11 Pt 1):1222-6	Esophageal and gastric cardia cancer risk and folate- and vitamin B(12)-related polymorphisms in Linxian, China.		607093	12589	2	2003	Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population.	Case:219 incident esophageal (n=129) and gastric cardia (n=90) cancer patinets Linxian, North Central China:1985-1996;Control:398:controls										
130932		lymphoma, malignant	CANCER	CAN	Lymphoma	17	17q23.1	MPO	53702215	53713295		Matsuo, K.  et al. 2001	11423389				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Haematologica. 2001 Jun;86(6):602-8	No substantial difference in genotype frequencies of interleukin and myeloperoxidase polymorphisms between malignant lymphoma patients and non-cancer controls.		606989	26424	2	2001	 Our data show a limited association between these polymorphisms and malignant lymphoma risk in total. The possible association of the IL-1A and IL-1B polymorphisms with DLB-needs further clarification.	Control:241 non-cancer control subjects:Japan;Case:372 lymphoma cases:Japan										
130861	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Chlamydia Infections|Diabetic Nephropathies|Kidney Failure, Chronic|Arteriosclerosis	17	17q23.1	MPO	53702215	53713295		Pecoits-Filho R et al. 2003	12694338				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			KGB	4353	Hs.458272			Kidney international Supplement. 2003 May;(84):S172-6	A functional variant of the myeloperoxidase gene is associated with cardiovascular disease in end-stage renal disease patients.		606989	4574	1	2003	Our findings suggest that the -463 G-->A SNP, which supposedly results in lower MPO activity, is associated with a lower prevalence of CVD in ESRD patients. It could be speculated that this effect is mediated by a decreased oxidative stress due to lower production of free radicals.	Cohort 155 end-stage renal disease patients	Chlamydia pneumoniae									
130893	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Disease Susceptibility	17	17q23.1	MPO	53702215	53713295		Schabath, M. B.  et al. 2002	12111688				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			American journal of industrial medicine. 2002 Jul;42(1):29-37	Association between asbestos exposure, cigarette smoking, myeloperoxidase (MPO) genotypes, and lung cancer risk.		606989	18337	2	2002	 For a similar level of exposure to established carcinogens, individuals with the MPO A-allele genotypes appear to have a reduced risk of lung cancer.	Case:375 Caucasian lung cancer cases;Control:378 matched controls	asbestos smoking (tobacco)									
130871	Y	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Matsuo, K.  et al. 2001	11434421				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		Japan	CDC GDPinfo	4353	Hs.458272			Journal of epidemiology. 2001 May;11(3):109-14	Possible risk reduction in esophageal cancer associated with MPO -463 A allele.		606989	12500	2	2001	Although there are limitations for interpretation of this study because of prevalent case-control study and partial statistical significance, these results suggest that MPO -463 A allele reduce the risk of esophageal cancer.	Control:241 non-cancer outpatients;Case:91 patients with esophageal cancer										
130865	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Reynolds WF et al. 1999	9918702	G binds SP1, A binds ERa , ER competes with PPARg (see Kumar Reynolds JBC 2004)	G is higher expressing in monocyte macrophages	5'promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			KGB	4353	Hs.458272			Experimental neurology. 1999 Jan;155(1):31-41	Myeloperoxidase polymorphism is associated with gender specific risk for Alzheimer's disease.		606989	4578	1	1999	a genetic polymorphism links MPO expression to Alzheimer's risk, in that a higher expressing SpSp MPO genotype was associated with increased incidence of AD in females, and decreased incidence in males (P = 0.006)											
130646	Y	liver disease, chronic	OTHER	OTH	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	11	11q22.3	MMP1	102165860	102174104		Okamoto, K.  et al. 2005	15955221				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Journal of gastroenterology and hepatology. 2005 Jul;20(7):1102-8	Association of functional gene polymorphisms of matrix metalloproteinase (MMP)-1, MMP-3 and MMP-9 with the progression of chronic liver disease.		120353	12424	2	2005	 These findings suggest that MMP-1, MMP-3, and MMP-9 gene polymorphisms account for some of the variability in the progression of HCV-related chronic liver diseases.											
130688	Y	gastric cardia adenocarcinoma	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Miao X 2003	12873995			5'promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			KGB	4313	Hs.513617			Cancer research. 2003 Jul;63(14):3987-90	A functional polymorphism in the matrix metalloproteinase-2 gene promoter (-1306C/T) is associated with risk of development but not metastasis of gastric cardia adenocarcinoma.		120360	4548	1	2003	These findings are consistent with our initial observation for lung cancer and further support the hypothesis that MMP2 genotype may influence individual susceptibility to the development of certain cancer.	Case:356 patients with gastric cardia adenocarcinoma										
141746	Y	amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	11	11p15.1	SAA1	18244345	18248092		Medlej-Hashim, M.  et al. 2004	15018633				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDPinfo	6288	Hs.632144			BMC medical genetics [electronic resource]. 2004 Feb;5:4	Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1and MICA polymorphisms effects.		104750	25499	2	2004	 The results suggest a protective effect of the SAA1 beta and gamma alleles on the development of amyloidosis and show the absence of a MICA modifying effect on amyloidosis development. Testing these polymorphisms on a larger sample will lead to more definite conclusions.	Case:30 Familial mediterranean fever patients with:amyloidosis;Control:40 Familial mediterranean fever patients without:amyloidosis										
130472	N	hepatitis B	INFECTION	INF	Hepatitis B, Chronic|Acute Disease	16	16p13	CIITA	10878557	10926341		Zhao, Y. R.  et al. 2005	15682480			promoter	class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDPinfo	4261	Hs.126714			World journal of gastroenterology. 2005 Feb;11(6):854-7	Relationship between polymorphism of class II transactivator gene promoters and chronic hepatitis B.		600005	9406	2	2005	 No polymorphism in promoters I, III and IV of CIITA gene exists in CHB patients, ABH patients and normal controls, suggesting that the promoter of CIITA gene might be a conserved domain.	Case:65/26 chronic hepatitis B (n=65) and acute hepatitis B:(n=26) cases;Control:85 normal controls										
141745		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Delibas, A.  et al. 2005	16118480				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDPinfo	6288	Hs.632144			American journal of nephrology. 2005 Sep-Oct;25(5):434-40	Genetic risk factors of amyloidogenesis in familial Mediterranean fever.		104750	23350	2	2005	 Positive family history for amyloidosis and presence of SAA1 alpha/alpha genotype in M694V/M694V mutation may predispose to amyloidosis by increasing the clinical severity. Therefore, in such children early colchicine treatment might be recommended even if they are asymptomatic.											
130382	N	mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq13	MED12	70255130	70279029	n	Friez MJ et al. 2000	10982179				mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1			KGB	9968	Hs.409226			Human genetics. 2000 Jan;106(1):36-9	Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.		300188 		6648	1	2000												
138677	N	melanoma	CANCER	CAN	Melanoma|Eye Neoplasms	9	9p21	CDKN2A	21957750	21965038		Vajdic, C.  et al. 2003	12883368				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			CDC GDPinfo	1029	Hs.512599			Melanoma research. 2003 Aug;13(4):409-13	Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study.		600160	15719	2	2003	Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.	Control ethnicity-matched population controls;Case:62 ocular melanomal cases										
130225	Y	Lupus	IMMUNE	IMM	Communicable Diseases|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466	1e-05	Garred P 2001	10524686				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			KGB	4153	Hs.499674			Arthritis and rheumatism. 1999 Oct;42(10):2145-52			154545	4453	1	2001												
130217		oculocutaneous albinism type 4	DEVELOPMENTAL	DEV	Albinism, Oculocutaneous|Chromosome Deletion	5	5p13.3	SLC45A2	33980477	34020537		Rundshagen U 2004	14722913				Solute carrier family 45, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016180.3	European	Germany	KGB	51151	Hs.278962			Human mutation. 2004 Feb;23(2):106-10	Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4.		606202	6763	1	2004												
130213	N	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	1	1p35	MATN1	30958582	30969474		Strusberg, I.  et al. 2002	12175111				Matrilin 1, cartilage matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002379.2			CDC GDPinfo	4146	Hs.150366			Clinical and experimental rheumatology. 2002 Jul-Aug;20(4):543-5	Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis.		115437	18151	2	2002	 We did not find any difference in the MATN-1 genotype distribution in OA patients and controls. To our knowledge, this would be the first time a MATN-1 allele of 104 bp (A6) has been identified These results do not support a role of the MATN-1 genotypes in the occurrence of clinical OA.	Control:53 unrelated controls from a rheumatology ambulatory center and a university hospital;Case:73 unrelated osteoarthritis patients from a rheumatology ambulatory center and a university:hospital										
130201	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	X	Xp11.23	MAOB	43510800	43626625		Matsumoto, C.  et al. 2004	15261699				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			Psychiatry research. 2004 Jun;127(2-Jan):7-Jan	Polymorphisms of dopamine degradation enzyme (COMT and MAO) genes and tardive dyskinesia in patients with schizophrenia.		309860	25218	2	2004	Our data, therefore, do not support the hypothesis that polymorphisms in COMT, MAOA, and MAOB genes are involved individually or in combination in the predisposition to TD.	Cohort 206 Japanese patients with schizophrenia 										
130057	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.1	MAG	40474877	40511973		D'Alfonso, S.  et al. 2002	12020971				Malignancy-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF041410			CDC GDPinfo	27307	Hs.348346			Journal of neuroimmunology. 2002 May;126(2-Jan):196-204	Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis.		159460	18112	2	2002	Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3.	Case:189 Italian multiple sclerosis patients;Control:85:controls										
129853	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12q13-q14	LRP1	55808548	55893392		Sanchez-Guerra, M.  et al. 2001	11720768				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDPinfo	4035	Hs.162757			Neuroscience letters. 2001 Dec;316(1):17-20	Case-control study and meta-analysis of low density lipoprotein receptor-related protein gene exon 3 polymorphism in Alzheimer's disease.		107770	12225	2	2001	In the current study, the LRP CC genotype was not over-represented in AD patients compared to non-demented controls. A meta-analysis of previous studies revealed a weak correlation of LRP CC genotype with AD (odds ratio of 1.35, P=0.01).	Control:304 control subjects not otherwise specified in:abstract;Case:305 sporadic AD patients										
129784	Y	insulin resistance	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X	8	8p22	LPL	19841057	19869049		Goodarzi MO 2004	14693718				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Mexican American	Los Angeles	KGB	4023	Hs.180878			Diabetes. 2004 Jan;53(1):214-20	Lipoprotein lipase is a gene for insulin resistance in Mexican Americans.		609708	4329	1	2004												
129760	Y	cardiovascular	CARDIOVASCULAR	CARD	Myocardial Ischemia	8	8p22	LPL	19841057	19869049		Wittrup HH et al. 1997	9120004				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878			The Journal of clinical investigation. 1997 Apr;99(7):1606-13	A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.		609708	4305	1	1997												
129751		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Hyperlipidemias|Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Klannemark M 2000	11073182	Asn291Ser			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		Finland	TJB	4023	Hs.180878			Diabetic medicine. 2000 Aug;17(8):599-605			609708	4296	1	2000	 The Asn/Ser genotype of the LPL gene is associated with dyslipidaemia in normoglycaemic subjects, and the dyslipidaemic phenotype is more severe in insulin-resistant subjects. This association is not seen in diabetic subjects.											
129708		familial partial lipodystrophy	OTHER	OTH	Diabetes Mellitus, Lipoatrophic|Insulin Resistance	1	1q21.2-q21.3	LMNA	154318992	154376495		Owen KR 2003	14510863				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			KGB	4000	Hs.491359			Diabetic medicine. 2003 Oct;20(10):823-7	Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.		150330	4277	1	2003	 This initial case suggests that, for modification of cardiovascular risk factors, there are no clear advantages in treating patients with FPLD with rosiglitazone despite increases in subcutaneous adipose tissue. Larger series will be needed to identify moderate beneficial effects and treatment may be more effective in patients with generalised forms of lipodystrophy.											
129629	Y	coronary artery calcium	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Calcinosis|Diabetes Mellitus, Type 1	15	15q21-q23	LIPC	56511466	56648364		Hokanson JE et al. 2002	11916946	-480		promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	type 1 diabetes	Colorado	KGB	3990	Hs.188630	pts with Type 1 diabetes		Diabetes. 2002 Apr;51(4):1208-13	A common promoter polymorphism in the hepatic lipase gene (LIPC-480C>T) is associated with an increase in coronary calcification in type 1 diabetes.		151670	4258	1	2002	In conclusion, the LIPC-480C>T polymorphism was associated with subclinical CHD in type 1 diabetes. This genetic variant may identify subjects in which early intervention to prevent CHD may be appropriate.	Cohort type 1 diabetic patients										
129464		LCAT deficiency	OTHER	OTH	Corneal Dystrophies, Hereditary|Corneal Opacity|Arcus Senilis|Amyloidosis, Familial|Lecithin Acyltransferase Deficiency	16	16q22.1	LCAT	66531287	66535516		Viestenz A 2003	12886512				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			KGB	3931	Hs.387239			Klin Monatsbl Augenheilkd. 2003 Jul;220(7):499-502	Ocular manifestation in LCAT deficiency--a clinicopathological correlation , trans Okulare Manifestation bei LCAT-Mangel - eine klinisch-histopathologische Korrelation.		606967	4205	1	2003	 To our knowledge, this is the second description in the literature of a patient with LCAT deficiency and secondary amyloidosis of the cornea. Additionally, LCAT deficiency is associated with anaemia and proteinuria. After a penetrating keratoplasty, prolonged wound healing is possible. Because of the bilateral corneal clouding, the ophthalmologist may help to identify patients with LCAT deficiency. Thus, it is possible to start antiarteriosclerotic therapy.											
129404	N	breast cancer; prostate cancer; testicular cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Testicular Neoplasms|Prostatic Neoplasms	19	19q13.3-q13.4	KLK10	56207811	56215243		Bharaj, B. B.  et al. 2002	11920956				Kallikrein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002776			CDC GDPinfo	5655	Hs.275464			The Prostate. 2002 Apr;51(1):35-41	Identification of single nucleotide polymorphisms in the human kallikrein 10 (KLK10) gene and their association with prostate, breast, testicular, and ovarian cancers.		602673	12099	2	2002	 We found no evidence for somatic mutations of the KLK10 gene in cancers of the prostate, breast, ovary, and testis. The single nucleotide variation at codon 50 appears to be associated with prostate cancer risk.	Case various tumors, normal tissues and blood;Control not specified in abstract										
129387		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19p13.3	KLF16	1803397	1814564		Kanazawa, A.  et al. 2005	15937668				Kruppel-like factor 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_031918.2			CDC GDPinfo	83855	Hs.136280			Diabetologia. 2005 Jul;48(7):1315-22	Single nucleotide polymorphisms in the gene encoding Kr????ppel-like factor 7 are associated with type 2 diabetes.		606139	27066	2	2005	These results indicate that the gene encoding KLF7 is a novel candidate for conferring genetic susceptibility to type 2 diabetes.	Case Japanese subjects with type 2 diabetes;Control subjects from the general population										
129279	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	11	11p15.1	KCNJ11	17363371	17367440		Ezenwaka, C.  et al. 2005	15930170				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3		Caribbean Region	CDC GDPinfo	3767	Hs.248141			The Journal of endocrinology. 2005 Jun;185(3):439-44	The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glucose tolerance in Caribbean subjects with a family history of type 2 diabetes.		600937	17914	2	2005	There were no significant differences in biochemical risk factors for developing diabetes in offspring carriers of the E23K variant compared with offspring non-carriers of the mutation. Offspring with the E23K mutation had even significantly higher 2 h insulin concentrations when compared with control subjects. It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subjects with an immediate positive family history of diabetes does not confer significantly higher levels of biochemical risk factors for the development of type 2 diabetes.	Control:39 apparently healthy subjects whose paretns were not:diabetic;Case:46 Caribbean offspring of patients with type 2:diabetes	family history									
129208	Y	azathioprine tolerance	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	20	20p	ITPA	3138055	3152506		Marinaki, A. M.  et al. 2004	15571265				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDPinfo	3704	Hs.415299			Nucleosides, nucleotides & nucleic acids. 2004 Oct;23(9-Aug):1393-7	Mutation in the ITPA gene predicts intolerance to azathioprine.		147520	17887	2	2004	Polymorphism in the ITPA gene thus predicts AZA intolerance. Alternative immunosuppressive drugs, particularly 6-thioguanine, should be considered for AZA-intolerant patients with ITPase deficiency.	Cohort 62 patients treated with azathioprine for inflammatory bowel disease 										
129034	N	diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Peripheral Vascular Diseases|Diabetes Mellitus, Type 2	17	17q21.32	ITGA2B	39805075	39822399		Carter AM 1998	9585397	HPA-3			Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			Y Wang	3674	Hs.411312	Complications		Diabetic medicine. 1998 Apr;15(4):315-9	Polymorphisms of platelet glycoproteins in relation to macrovascular disease in type 2 diabetes mellitus.		607759	4099	1	1998												
128924		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Dilek, S.  et al. 2005	16084882				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Fertility and sterility. 2005 Aug;84(2):407-12	Association of Gly972Arg variant of insulin receptor substrate-1 with metabolic features in women with polycystic ovary syndrome.		147545	17849	2	2005												
128879	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Shimokawa K 1994	8037748	513 (Ala-->Pro) and 972 (Gly-->Arg)			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Japanese	Japan	Y Wang	3667	Hs.471508			Biochemical and biophysical research communications. 1994 Jul;202(1):463-9	Molecular scanning of the glycogen synthase and insulin receptor substrate-1 genes in Japanese subjects with non-insulin-dependent diabetes mellitus.		147545	4065	1	1994	We conclude that  the tandem repeat polymorphism in the glycogen synthase gene and the polymorphisms at codons 513 and 972 of the IRS-1 gene are not associated with a higher risk for the development of NIDDM in Japanese subjects.											
128765		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diseases in Twins	11	11p15.5	INS	2106922	2139015		Metcalfe, K. A.  et al. 2001	11347740				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		Great Britain	CDC GDPinfo	3630	Hs.89832			Diabetes care. 2001 May;24(5):838-42	Concordance for type 1 diabetes in identical twins is affected by insulin genotype.		176730	22624	2	2001	 We conclude that the possession of the high-risk Hph I insulin genotype increases the likelihood of identical twins being concordant for type 1 diabetes and that the load of both major histocompatibility complex (MHC) and non-MHC susceptibility genes has an impact on the disease penetrance of type 1 diabetes.	Cohort 77 monozygotic twin pairs (40 concordan and 37 discordant for type 1 diabetes) 										
128746	Y	diabetes, type 1	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Vafiadis, P.  et al. 2001	11502799				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3705-10	Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes.		176730	11936	2	2001	This confirms our prediction and represents an additional level of correlation between thymic insulin and diabetes susceptibility, which supports a thymic enhancer effect of the INS variable number of tandem repeats as the mechanism of IDDM2 and refines the contribution of IDDM2 genotyping to diabetes risk assessment.	287 diabetic children and their parents 										
128674	N	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	7	7p15-p13	INHBA	41695125	41709231		Dixit, H.  et al. 2004	15205401				Inhibin, beta A (activin A, activin AB alpha polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002192.2	Indian	India	CDC GDPinfo	3624	Hs.583348			Human reproduction (Oxford, England). 2004 Aug;19(8):1760-4	Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure		147290	17801	2	2004	 The INHalpha gene is a strong candidate gene for ovarian failure. Mutations in INHbetaB and INHbetaA genes are not associated with ovarian failure.	Control:100:controls;Case:80/33/4 patients with premature ovarian failure (n=80), primary amenorrhoea (n=33) and secondary:amenorrhoea (n=4)										
128637	Y	asthma; chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Stemmler, S.  et al. 2005	15772681				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2			CDC GDPinfo	3577	Hs.194778			Genes and immunity. 2005 May;6(3):225-30	Association of interleukin-8 receptor alpha polymorphisms with chronic obstructive pulmonary disease and asthma.		146929	11932	2	2005	Thus, these polymorphisms may play a role in the pathogenesis of COPD and asthma.	Case:182/68/130 chronic obstructive pulmonary disease patients (n=182), and adult patients (n=68) and children (n=130) with asthma;Control:454 healthy controls										
128198		gastritis, chronic atrophic; stomach cancer	CANCER	CAN	Helicobacter Infections|Gastritis|Stomach Diseases|Stomach Neoplasms|Atrophy|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Taguchi, A.  et al. 2005	16284368				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Japanese	Japan	CDC GDPinfo	3557	Hs.81134			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2487-93	Interleukin-8 promoter polymorphism increases the risk of atrophic gastritis and gastric cancer in Japan.		147679	22553	2	2005												
128601	Y	microsatellite polymorphism of the interleukin 8 (IL-8) gene	OTHER	OTH	Bronchiolitis|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Emi M et al. 1999	10319580				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Japan	KGB	3576	Hs.624			Journal of human genetics. 1999 ;44(3):169-72	Association of diffuse panbronchiolitis with microsatellite polymorphism of the human interleukin 8 (IL-8) gene.		146930	3769	1	1999												
125171		hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-A	29963507	30085130		Wang, C.  et al. 2004	15057902				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Hepatology (Baltimore, Md). 2004 Apr;39(4):978-88	HLA and cytokine gene polymorphisms are independently associated with responses to hepatitis B vaccination.		142800	11883	2	2004	In conclusion, DRB1*07 (or a closely linked allele) and immunoregulatory cytokine gene polymorphisms correlate with variable immune response to recombinant HBV vaccines.	Cohort 164 North American adolescents vaccinated with recombinant HBV products 										
128424		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	5	5q31.1	IL4	132037271	132046267		Genevay, S.  et al. 2002	12115161				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Arthritis and rheumatism. 2002 Jun;47(3):303-9	Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis.		147780	26295	2	2002	 None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration.	Control:148 ethnically matched controls;Case:233/99 patients with rheumatoid arthritis (n=233) and with polymyalgia rheumatica (n=99)										
128387	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Liu, X.  et al. 2004	15007352				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	German	Germany	CDC GDPinfo	3565	Hs.73917			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German MulticenterAtopy Study.		147780	22577	2	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study 	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal									
127698	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700	n	Bugawan TL et al. 2003	12748907				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Filipinos	Philippines	Y Wang	3596	Hs.845			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetesamong Filipinos		147683	3916	1	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
128371	Y	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Choi, E. H.  et al. 2002	12402189				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Korean	Korea	CDC GDPinfo	3565	Hs.73917			The Journal of infectious diseases. 2002 Nov;186(9):1207-11	A common haplotype of interleukin-4 gene IL4 is associated with severe respiratory syncytial virus disease in Korean children.		147780	17744	2	2002	These results support the hypothesis that severe RSV disease might be related to increased Th2 response, which is perhaps mediated by overexpression of IL-4, and provide preliminary evidence for a genetic link between severe RSV disease and subsequent wheezing.	Case:105 children who were hospitalized with severe RSV:infection:Korea;Control:315 Korean control subjects										
128330	Y	Asthma. FEV1	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267	P=0.013	Burchard EG 1999	10471619	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KCB	3565	Hs.73917			American journal of respiratory and critical care medicine. 1999 Sep;160(3):919-22			147780	3641	1	1999												
127859	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Joki-Erkkila, V. P.  et al. 2003	14533660				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Annals of allergy, asthma & immunology. 2003 Sep;91(3):275-9	Allergic rhinitis and polymorphisms of the interleukin 1 gene complex.		147760	11745	2	2003	 The IL-1 gene complex polymorphism is strongly associated with allergic rhinitis in nonasthmatic individuals.	Cohort 405 nonasthmatic individuals of whom 56 had allergic rhinitis 										
127952	Y	primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	2	2q14	IL1B	113303807	113310827		Lin HJ 2003	12913327				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Ophthalmologica. 2003 Sep-Oct;217(5):358-64	Association of interleukin 1beta and receptor antagonist gene polymorphisms with primary open-angle glaucoma.		147720	3529	1	2003	 The frequency of the E2 allele of the IL-1beta exon 5 polymorphism was high in POAG patients. Therefore the E2 allele can be used as a marker to predict or search for the genetic causes of glaucoma in Chinese POAG patients. Furthermore, we have concluded that the other 2 polymorphisms (IL-1 promoter 511 and IL-1Ra) are not helpful in predicting Chinese POAG.											
127989	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Hematuria|Proteinuria|Hypertension|Disease Progression	2	2q14	IL1B	113303807	113310827		Syrjanen, J.  et al. 2002	11849463				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Kidney international. 2002 Mar;61(3):1079-85	Polymorphism of the cytokine genes and IgA nephropathy.		147720	14377	2	2002	 Carriage of IL1beta2 and IL1RN*2 together with non-carriage of TNF2 is associated with increased susceptibility, but not with a prognosis of IgAN.	Case:167 patients with IgA nephropathy;Control:400 healthy blood donor controls										
128022		periodontitis	IMMUNE	IMM	Bone Resorption|Gingival Hemorrhage|Periodontitis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Nastri, L.  et al. 2003	12874528				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Italy	CDC GDPinfo	3553	Hs.126256			Minerva stomatologica. 2003 Jun;52(6):253-9	[Association between interleukin-1 composite genotype and severe periodontitis: case-controlstudy]		147720	22514	2	2003	 The results obtained lead us to consider of little value the meaning of this genetic test. The test did not supply any useful element in discriminating controls from severe periodontal cases; therefore, it is not useful in the formulation of the prognosis.	Control:10 periodontally healthy people;Case:20 subjects aged more than 35 with clinical and radiographic signs of severe periodontitis										
127852		periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Dental Plaque|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Cullinan, M. P.  et al. 2001	11737511				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Australia	CDC GDPinfo	3552	Hs.1722			Journal of clinical periodontology. 2001 Dec;28(12):1137-44	A longitudinal study of interleukin-1 gene polymorphisms and periodontal disease in a general adult population		147760	11737	2	2001	 The results of this study have shown an interaction of the IL-1 positive genotype with age, smoking and P. gingivalis which suggests that IL-1 genotype is a contributory but non-essential risk factor for periodontal disease progression in this population.	Cohort 295 subjects from an ongoing study of the Oral Care Research Programme of The University of Queensland 	smoking (tobacco)									
127926	N	susceptibility to febrile convulsions	OTHER	OTH	Epilepsy, Temporal Lobe|Seizures, Febrile|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827	n	Tilgen N et al. 2002	12431777				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Neuroscience letters. 2002 Dec;334(1):68-70	Association analysis between the human interleukin 1beta (-511) gene polymorphism and susceptibility to febrile convulsions.		147720	3503	1	2002												
127870		sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Disease Progression	2	2q14	IL1A	113247962	113259442		Grutters, J. C.  et al. 2003	12737276				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Dutch	Great Britain|Netherlands	CDC GDPinfo	3552	Hs.1722			Sarcoidosis, vasculitis, and diffuse lung diseases. 2003 Mar;20(1):20-7	Analysis of IL6 and IL1A gene polymorphisms in UK and Dutch patients with sarcoidosis.		147760	11869	2	2003	 Although the investigated polymorphisms are unlikely to contribute to sarcoidosis susceptibility, the IL6-174C allele might have a role in the genetics underlying sarcoidosis severity or the progression towards pulmonary fibrosis in a particular subgroup.	Control:101/166 UK (n=101) and Dutch (n=166) controls;Case:147/102 UK (n=147) and Dutch (n=102) sarcoidosis patients										
127776	Y	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Tamura, K.  et al. 2002	12572878				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Journal of gastroenterology. 2002 Nov;37 Suppl 14:111-6	IL18 polymorphism is associated with an increased risk of Crohn's disease.		600953	11712	2	2002	 IL18 is probably one of several genes that determine susceptibility to Crohn's disease.	Case patients with Crohn's disease;Control healthy controls										
127727	N	pollinosis, cedar	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Cheng, L.  et al. 2005	16272823				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Japanese	Japan	CDC GDPinfo	3596	Hs.845			International archives of allergy and immunology. 2006 ;139(1):25-30	Lack of Association between the IL13 Variant Arg110Gln and Susceptibility to Cedar Pollinosis in a Japanese Population.		147683	17709	2	2005	 Our data suggest lack of evidence for identifying the variant Arg110Glnat the IL13 locus as a genetic risk factor involved in the development of Japanese cedar pollinosis.											
140582		lupus erythematosus; lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Sanchez, E.  et al. 2005	15941730				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDPinfo	3594	Hs.567294			Rheumatology (Oxford, England). 2005 Sep;44(9):1136-9	Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus.		601604	22459	2	2005	 These results suggest that polymorphisms located in IL12B, IL12RB1 and IL23A genes may not play a relevant role in the susceptibility or severity of SLE in the Spanish population.											
127404		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q31-q32	IL10	205007570	205012462		Lazarus M 1997	9415634				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		Y Wang	3586	Hs.193717			The Journal of rheumatology. 1997 Dec;24(12):2314-7	Genetic variation in the interleukin 10 gene promoter and systemic lupus erythematosus.		124092	3854	1	1997												
127380		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Almeras L et al. 2002	12101075			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			European cytokine network. 2002 Apr-Jun;13(2):200-6	Interleukin-10 promoter polymorphism in multiple sclerosis: association with disease progression.		124092	3830	1	2002												
127367	N	cardiovascular	CARDIOVASCULAR	CARD	Heart Failure	1	1q31-q32	IL10	205007570	205012462	n	Bijlsma FJ et al. 2001	11260510			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Tissue antigens. 2001 Feb;57(2):151-3	No association between IL-10 promoter gene polymorphism and heart failure or rejection following cardiac transplantation.		124092	3817	1	2001												
127353	Y	gastric carcinoma	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Wu MS	12594817				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Taiwanese Chinese	China|Taiwan	KEW	3586	Hs.193717			International journal of cancer. Journal international du cancer. 2003 May;104(5):617-23			124092	3803	1	1991		Case:220; Control:230										
127308		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Schildkraut, J. M.  et al. 2005	15734965				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDPinfo	3486	Hs.450230			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):403-8	IGF1 (CA)19 repeat and IGFBP3 -202 A/C genotypes and the risk of prostate cancer in Black and White men.		146732	22348	2	2005	Further research is needed to confirm these findings.	Case:100 prostate cancer cases identified atDurham Veterans Administration Medical Center over a 2.5-year:period;Control:93 frequency matched controls										
127169	Y	graft-versus-host disease	IMMUNE	IMM	Hematologic Neoplasms|Anemia|Graft vs Host Disease|Immunologic Deficiency Syndromes|Acute Disease	12	12q14	IFNG	66834816	66839788		Mlynarczewska, A.  et al. 2004	15235581				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Bone marrow transplantation. 2004 Aug;34(4):339-44	Lack of IFN-gamma 2/2 homozygous genotype independently of recipient age and intensity of conditioning regimen influences the risk of aGVHD manifestation after HLA-matched sibling haematopoietic stem cell transplantation.		147570	17648	2	2004	Thus, it appeared that the IFN-gamma 2/2 genotype constituted an independent and protective factor associated with a decreased risk of grade II-IV aGvHD. However, this genotype was not found to be associated with the risk of cGvHD or survival.	Cohort 110 patients (71 adults and 39 children) who received allogeneic haematopoietic stem cell transplantation from HLA-matched sibling donors 										
127166		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Rossouw, M.  et al. 2003	12788577				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		South Africa	CDC GDPinfo	3458	Hs.856			Lancet. 2003 May;361(9372):1871-2	Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene.		147570	17644	2	2003	This preferential binding suggests that genetically determined variability in interferon gamma and expression might be important for the development of tuberculosis.	Control:controls;Case:313 tuberculosis cases										
127081	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Neoplasm Invasiveness|Disease Progression	12	12q14	IFNG	66834816	66839788		Lai, H. C.  et al. 2004	15499631				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			International journal of cancer. Journal international du cancer. 2005 Feb;113(5):712-8	Genetic polymorphism of the interferon-gamma gene in cervical carcinogenesis		147570	11555	2	2004	Genetic polymorphism of the IFN-gamma gene is associated with individual susceptibility to cervical carcinogenesis. This polymorphism correlates with HPV infection in a disease- and type-specific manner.	Control:93/123/153;Case:93/123/153 patients with low-grade squamous intraepithelial lesions (LSILs; n = 93), high-grade squamous intraepithelial lesions (HSILs; n = 123) and invasive carcinomas (n = 153) of the uterine cervix										
127001		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	10	10q23-q25	IDE	94204018	94323813		Gu, H. F.  et al. 2004	15277398				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Diabetes. 2004 Aug;53(8):2137-42	Quantitative Trait Loci Near the Insulin-Degrading Enzyme (IDE) Gene Contribute to Variation in Plasma Insulin Levels		146680	17633	2	2004	Results indicate that polymorphism in/near IDE contributes to a large proportion of variance in plasma insulin levels and correlated traits, but questions of sex specificity and allelic heterogeneity will need to be taken into consideration as the molecular basis of the observed phenotypic effects unfolds.	Case:321 impaired glucose tolerant subjects;Control:403 nondiabetic controls										
126954	N	erythema nodosum	IMMUNE	IMM	Erythema Nodosum	19	19p13.3-p13.2	ICAM1	10242778	10258291		Amoli MM 2004	14760823	R for G at codon 241, K for E at codon 469			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KGB	3383	Hs.643447			The Journal of rheumatology. 2004 Feb;31(2):403-5	Lack of association between ICAM-1 gene polymorphisms and biopsy-proven erythema nodosum.		147840	3375	1	2004												
126510	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Xie, J.  et al. 2004	15165109				Heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3		China	CDC GDPinfo	3304	Hs.274402			Journal of Huazhong University of Science and Technology Medical sciences. 2004 ;24(1):28-31	Heat shock protein 70 gene polymorphisms in Han nationality of China with chronic obstructive pulmonary diseases		603012	22262	2	2004	It was suggested that geneic polymorphism in HSP70 is not associated with development of COPD in Han nationality of China.	Control:87 healthy smoking controls;Case:88 Han Chinese patients with chronic obstructive pulmonary disease:China										
126398	N	myocardial infarction; stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Myocardial Infarction|Acute Disease	4	4q21.3	HPSE	84435496	84475330		Chen, F.  et al. 2000	11798780				Heparanase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006665.3	Chinese		CDC GDPinfo	10855	Hs.44227			Zhonghua yi xue za zhi. 2000 May;80(5):332-5	[Polymorphism of human platelets alloantigens in Chinese patients with acute myocardial infarction and acute ischemic stroke]		604724	11341	2	2000	 Polymorphism of HPA is not an inherited risk factor and is not associated with Chinese arterial thrombotic diseases, such as AMI and AIS.	Case:188 acute ischemic stroke patients;Control:270 normal controls;Case:95 acute myocardial infarction patients										
126321	Y	malaria, cerebral	INFECTION	INF	Malaria, Cerebral|Malaria, Falciparum	22	22q12	HMOX1	34107086	34120194		Takeda, M.  et al. 2005	16249618			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1		Myanmar	CDC GDPinfo	3162	Hs.517581			Japanese journal of infectious diseases. 2005 Oct;58(5):268-71	Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to cerebral malaria in Myanmar.		141250	11313	2	2005												
126300	Y	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Coronary Disease|Aortic Aneurysm, Abdominal|Arteriosclerosis|Peripheral Vascular Diseases|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Schillinger M et al. 2002	12182912			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			KGB	3162	Hs.517581			Thrombosis research. 2002 Apr;106(2):131-6	Heme oxygenase-1 gene promoter polymorphism is associated with abdominal aortic aneurysm.		141250	3174	1	2002	 Patients with AAA were less frequently carriers of short (< 25 GT) repeats in the HO-1 gene promoter than patients with atherosclerosis or healthy subjects. This suggests that short alleles, and thus, facilitated upregulation of HO-1, may be a protective anti-inflammatory factor against the development of AAA.	Case:70 consecutive patients with atherosclerotic AAA;Control:70/70/61 patients with coronary (n=70) and with peripheral (n=70) artery disease, and unmatched healthy atherosclerosis-free controls (n=61)										
125177		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-A	29963507	30085130		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		142800	17162	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
142403	Y	autoimmune pancreatitis	IMMUNE	IMM	Pancreatitis|Calcinosis|Autoimmune Diseases|Chronic Disease	6		HLA	29903802	30085613		Kawa S et al. 2002	11984513						Japanese	Japan	KGB					Gastroenterology. 2002 May;122(5):1264-9	HLA DRB10405-DQB10401 haplotype is associated with autoimmune pancreatitis in the Japanese population.			7768	1	2002	 It is probable that DRB1*0405-DQB1*0401 haplotype is associated with autoimmune pancreatitis in the Japanese population.											
125313		periodontitis	IMMUNE	IMM	Periodontitis|Periodontitis, Juvenile|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Stein, J.  et al. 2003	12941076				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			Journal of periodontal research. 2003 Oct;38(5):508-17	Are there HLA combinations typical supporting for or making resistant against aggressive and/or chronic periodontitis?		142830	21742	2	2003	 The present study elucidates the variety of HLA associations and therefore the difficulty to assign single HLA markers to periodontal disease. Susceptibility/resistance of both aggressive and chronic periodontitis may rather be influenced by particular HLA marker combinations. Associated HLA haplotypes may be of further importance for unknown gene loci representing a part of the genetic background for periodontitis. The different associations in aggressive and chronic periodontitis indicate different susceptibility/resistance factors for both diseases.	Control:102 control probands without periodontitis;Case:50/102 German Caucasian groups with generalized aggressive (N = 50) and chronic (N = 102) periodontitis										
125512		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQA1	32713160	32722817		Zabay Becerril, J. M.  et al. 2004	14752708				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish	Spain	CDC GDPinfo	3117	Hs.387679			Revista de neurologia. 2004 Jan;38(2):118-22	[The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands:the influence exerted by sex]		146880	11137	2	2004	 The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.	Control:107 controls from a similar ethnic origin;Case:43 individuals with clinically defined MS Balearic Islands, Spain										
125604		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Hermann, R.  et al. 2004	15049049				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Hungary	CDC GDPinfo	3117	Hs.387679			Orvosi hetilap. 2004 Feb;145(7):337-42	[In Process Citation]		146880	17294	2	2004	 Using HLA DRB1-DQA1-DQB1 markers predictive genetic screening for type 1 diabetes is feasible in the Hungarian population with high diagnostic sensitivity and specificity. At present, such a screening for individuals at risk for type 1 diabetes in the general population is recommended only as part of prospective studies on the natural history or prevention of disease. To increase the positive predictive value of the model, pancreas beta-cell autoantibodies need to be measured and followed in the high-risk cohort.	Case:149 consecutively diagnosed children with type 1:diabetes;Control:177 randomly selected healthy schoolchildren										
125609		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Boon, M.  et al. 2004	15300424				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Netherlands	CDC GDPinfo	3117	Hs.387679			Human genetics. 2004 Sep;115(4):280-4	Inheritance mode of multiple sclerosis: the effectof HLA class II alleles is stronger than additive		146880	17299	2	2004	This susceptibility locus for MS seems to follow an intermediate mode of inheritance. Fitting additive, multiplicative and third power risk models to the data, the effect appears to be significantly stronger than additive.	Cohort 124 multiple sclerosis patients with ancestry within the northeastern part of the Netherlands 		HLA haplotypes	interval located between markers G511525 and D6S1666 identified by the haplotype sharing statistic					Y		multiple sclerosis
125564		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Price, P.  et al. 2001	11903620				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Immunology and cell biology. 2001 Dec;79(6):602-6	Can MHC class II genes mediate resistance to type 1 diabetes?		146880	17252	2	2001	HLA-DR15 was the most effective marker of resistance, but an effect may be evident with IKBL738*C in a larger study. Moreover, carriage of the entire haplotype was particularly rare in patients. The best explanation for this is that the critical gene lies between IKBL and HLA-DRB1, and is more closely linked to HLA-DRB1. Candidate genes at the centromeric end of the central MHC are reviewed, highlighting the need for further study.	Case type 1 diabetic patients;Control controls not specified in abstract										
125558		diabetes, type 1; autoimmune diabetes; diabetes, autoimmune	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Gambelunghe, G.  et al. 2001	11502807				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Sweden	CDC GDPinfo	3117	Hs.387679			The Journal of clinical endocrinology and metabolism. 2001 Aug;86(8):3754-60	Two distinct MICA gene markers discriminate major autoimmune diabetes types.		146880	17244	2	2001	Our study provides demonstration of the existence of distinct genetic markers for childhood/young-onset type 1 diabetes mellitus and for adult-onset type 1 diabetes mellitus/latent autoimmune diabetes of the adult, namely major histocompatibility complex class I chain-related A gene 5 and major histocompatibility complex class I chain-related A gene 5.1, respectively.	Control:158 healthy subjects central Italy;Case:195 type 1 diabetic subjects central Italy;Case:80 latent autoimmune diabetic adult subjects central Italy										
125547		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Cinek, O.  et al. 2000	11098934				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Norway	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2000 Oct;56(4):344-9	Screening for the IDDM high-risk genotype. A rapid microtitre plate method using serum as source of DNA		146880	17233	2	2000	The prevalence of the DRB1*0401-DQA1*03-DQB1*0302/DRB1*03-DQA1*05-DQB1*0201 genotype among 1,026 Norwegian babies was 2.7% (CI	Cohort babies whose blood was drawn for routine newborn screening for phenylketonuria and hypothyreosis. Norwegian 										
125493		cervical cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Dehaghani, A. S.  et al. 2002	11994765				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Iranian	Iran	CDC GDPinfo	3117	Hs.387679			Pathology oncology research. 2002 ;8(1):58-61	HLA-DQBl alleles and susceptibility to cervical squamous cell carcinoma in Southern Iranian patients.		146880	11115	2	2002	Positive association of cervical carcinoma with a single allele of HLA-DQ provides evidence on the importance of HLA class II molecules and the immune response in squamous cell carcinoma of cervix.	Case:23 Iranian pateints with cervical squamous cell:carcinoma southern Iran;Control:36 healthy Iranian female controls		HLA-DQB1	* 0601					Y		squamous cell carcinoma of cervix
125606		pelvic inflammatory disease	OTHER	OTH	Chlamydia Infections|Gonorrhea|Pelvic Inflammatory Disease|Endometritis|Infertility, Female|Disease Susceptibility	6	6p21.3	HLA-DQA1	32713160	32722817			15107633				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		United States	CDC GDPinfo	3117	Hs.387679			Sexually transmitted diseases. 2004 May;31(5):301-4	Associations Among Human Leukocyte Antigen (HLA) Class II DQ Variants, Bacterial Sexually Transmitted Diseases, Endometritis, and Fertility Among Women With Clinical Pelvic Inflammatory Disease		146880	17296	2	2004	 Among women with signs and symptoms of PID, carriage of the DQA *0301, DQA *0501, and DQB *0402 alleles altered the occurrence of lower genital tract infection, upper genital tract inflammation, and infertility.	Cohort 92 women with clinical signs and symptoms of mild-to-moderate PID, enrolled in the PEACH Study 										
125583	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Tanaka, S.  et al. 2002	12453977				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetes care. 2002 Dec;25(12):2302-7	Association of HLA-DQ genotype in autoantibody-negative and rapid-onset type 1 diabetes.		146880	17272	2	2002	 Pathogenic roles of genotypic combinations of specific HLA-DQ haplotypes in a homozygous manner are suggested as causative mechanisms of aggressive beta-cell damage in a subtype of autoantibody-negative type 1 diabetes with fulminant clinical features.	Control:22 fulminant autoantibody-negative type 1 diabetes:patients;Case:78 autoantibody-positive type 1 diabetes (immune-mediated type 1 diabetes) patients										
125592		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Diaz, N.  et al. 2003	12974555				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Chile	CDC GDPinfo	3117	Hs.387679			European journal of epidemiology. 2003 ;18(8):787-92	Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes.		146880	17282	2	2003	This study shows an application on how a transformation of the logistic equation based on Bayes' theorem can be used to estimate incidence rates from case-control studies and population-based incidence rates.	Control:125:controls;Case:57 type 1 diabetics recruited from the incidence study:Santiago, Chile:Cohort:61 incident cases of type 1 diabetes during 1 year:Santiago, Chile										
125221		meningioma	CANCER	CAN	Meningeal Neoplasms|Meningioma|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Machulla, H. K.  et al. 2003	14693734				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Cancer epidemiology, biomarkers & prevention. 2003 Dec;12(12):1438-42	Meningioma: is there an association with humanleukocyte antigens?		142800	17388	2	2003	These associations may be indicative of the involvement of the immune system in the host antitumor surveillance, recognition, and destruction of de novo arising human tumor cells.	Control:157 area- and race-matched healthy controls;Case:81 adult Caucasian patients with symptomatic central nervous system meningiomas		HLA-A	*02	HLA-DQB1	*05			Y		meningioma
139705	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	0.0005	Sirikong M et al. 2002	12028537	DRB1*1502			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai	Thailand	Tsuchiya N	3123	Hs.534322			Tissue antigens. 2002 Feb;59(2):113-7	Association of HLA-DRB1*1502-DQB1*0501 haplotype with susceptibility to systemic lupus erythematosus in Thais.		142857	7080	1	2002	Taken together with the previous report which demonstrated the association of the same haplotype in Taiwan, our present observations strongly suggested that DRB1*1502 - DQB1*0501 is the major HLA haplotype that confers susceptibility to SLE in the South-east Asian populations.	Case Thai systemic lupus erythematosus patients;Control normal controls										
139873		hepatitis C	INFECTION	INF	Hepatitis C|Cryoglobulinemia	6	6p21.3	HLA-DRB1	32593131	32665559		Sebastiani, G. D.  et al. 2005	16180280				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Journal of biological regulators and homeostatic agents. 2005 Jan-Jun;19(2-Jan):17-22	Association of extrahepatic manifestations with HLA class II alleles and with virus genotype in HCV infected patients.		142857	22121	2	2005												
125619	Y	diabetes, type 2; diabetes, type 1	UNKNOWN	UNK	Diabetes Mellitus, Type 2|Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Martinka, E.  et al. 1999	15641229				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Vnitr Lek. 1999 Feb;45(2):103-9	[Latent autoimmune (type I) diabetes mellitus in adults. Part. II. Association of HLA antigens, status of cellular immunity and occurrence of other autoimmune diseases]		146880	17309	2	1999	We confirmed increased occurence of OSA in patients with LADA, what stress importance of routine screening for OSA in patients with LADA.	Control:20 healthy volunteers;Case:24/11 patients with latent autoimmune (Type-1) diabetes (n=24) and patients with Type-2 diabetes (n=11)										
125208		hepatitis C; hepatitis B	INFECTION	INF	Hepatitis B|Hepatitis, Viral, Human|Hepatitis A|Hepatitis C|Hepatitis D|Chronic Disease	6	6p21.3	HLA-A	29963507	30085130			15807454				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Kazakhstan|Russia	CDC GDPinfo	3105	Hs.181244			Ter Arkh. 2005 ;77(2):54-9	[Immunogenetic HLA markers of chronic viral hepatitis]		142800	17209	2	2005	 A universal role of HLA-B35 specificity in development of CVH irrespective of hepatotropic virus and patients' nationality is shown.	Cohort 179 Russian and Kazakhs patients with viral hepatitides B, C and D Astrakhan region 										
125191	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid	6	6p21.3	HLA-A	29963507	30085130		Villalobos, C.  et al. 2003	14727382				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Venezuela	CDC GDPinfo	3105	Hs.181244			Invest Clin. 2003 Dec;44(4):283-9	[In Process Citation]		142800	17187	2	2003	No association was evident in Acute Lymphoid Leukemia. No negative association with Leukemias were observed.	Control:30 healthy controls;Case:60 Acute Lymphoid Leukemia and Myeloid Leukemia:patients										
139643	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myeloid	6	6p21.3	HLA-C	31344507	31432914		Villalobos, C.  et al. 2003	14727382				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Venezuela	CDC GDPinfo	3107	Hs.591791			Invest Clin. 2003 Dec;44(4):283-9	[In Process Citation]		142840	24595	2	2003	No association was evident in Acute Lymphoid Leukemia. No negative association with Leukemias were observed.	Control:30 healthy controls;Case:60 Acute Lymphoid Leukemia and Myeloid Leukemia:patients										
136927	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	8	8p21	TNFRSF10A	23104914	23138584		Horak, P.  et al. 2005	15863153				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2			CDC GDPinfo	8797	Hs.591834			Gynecologic oncology. 2005 May;97(2):514-8	Common death receptor 4 (DR4) polymorphisms do not predispose to ovarian cancer.		603611	14380	2	2005	 To summarize, alterations of the DR4 gene do not lead to clinically relevant ovarian cancer predisposition and are therefore most unlikely to contribute to familial ovarian cancer.											
137018	N	systemic lupus erythematosus	IMMUNE	IMM	Proteinuria|Lupus Erythematosus, Systemic|Lupus Nephritis	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Lee EB 2001	11600223				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Korean		Y Wang	7133	Hs.256278			Human immunology. 2001 Oct;62(10):1148-52	Tumor necrosis factor receptor 2 polymorphism in systemic lupus erythematosus: no association with disease.		191191	6132	1	2001												
137026	Y	bone mineral density	METABOLIC	MET	Osteoporosis	1	1p36.3-p36.2	TNFR2	12149646	12191864		Spotila LD et al. 2000	10893687				tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC052977			KGB	7133	Hs.256278			Journal of bone and mineral research. 2000 Jul;15(7):1376-83	Association of a polymorphism in the TNFR2 gene with low bone mineral density.		191191	6140	1	2000												
137139		human-papillomavirus-negative tumours	CANCER	CAN	Tumor Virus Infections|Adenocarcinoma|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Crook T et al. 1992	1349102				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Lancet. 1992 May;339(8801):1070-3	Clonal p53 mutation in primary cervical cancer: association with human-papillomavirus-negative tumours.		191170	6162	1	1992												
137219		laryngeal squamous cell carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	17	17p13.1	TP53	7505821	7531642		Ronchetti D 2004	15023836				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Archives of otolaryngology--head & neck surgery. 2004 Mar;130(3):303-6	Association between p53 gene mutations and tobacco and alcohol exposure in laryngeal squamous cell carcinoma.		191170	6242	1	2004	 Our data document that a smoking habit is the only independent variable associated with an increased risk of p53 mutations in the laryngeal mucosa.											
137235		HPV infection and cervical disease	INFECTION	INF	Papillomavirus Infections|Uterine Cervical Diseases|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Abba MC 2003	12818446				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			European journal of obstetrics, gynecology, and reproductive biology. 2003 Jul;109(1):63-6	The p53 codon 72 genotypes in HPV infection and cervical disease.		191170	6258	1	2003	 This study showed that polymorphism at codon 72 of TP53 gene is not associated with an increased susceptibility to cervical disease and/or HPV infection in the Argentine women population.											
137477	Y	heart disease, ischemic; insulin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Insulin Resistance|Genetic Predisposition to Disease	20	20p13-p12.2	TRIB3	309307	326203		Prudente, S.  et al. 2005	16123373	Q84R			Tribbles homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021158.3	Caucasian	Italy	CDC GDPinfo	57761	Hs.516826			Diabetes. 2005 Sep;54(9):2807-11	The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy.			14528	2	2005												
137503	N	Graves disease	IMMUNE	IMM	Graves Disease	14	14q31	TSHR	80491621	80682399	n	Kotsa KD et al. 1997	9086566				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	female		KGB	7253	Hs.160411			Thyroid. 1997 Feb;7(1):31-3	No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population.		603372	6289	1	1997												
137525	Y	familial amyloidotic polyneuropathy.	NEUROLOGICAL	NEUR	Nervous System Diseases|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Murakami T et al. 1992	1734866				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Biochemical and biophysical research communications. 1992 Jan;182(2):520-6	A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.		176300	6295	1	1992												
137529	Y	early-onset aggressive diffuse amyloidosis	CARDIOVASCULAR	CARD	Peripheral Nervous System Diseases|Cardiomyopathies|Amyloidosis	18	18q12.1	TTR	27425837	27432781		Jacobson DR et al. 1992	1351039				Transthyretin (prealbumin, amyloidosis type I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000371.1			KGB	7276	Hs.427202			Human genetics. 1992 May;89(3):353-6	Transthyretin Pro55 a variant associated with early-onset aggressive diffuse amyloidosis with cardiac and neurologic involvement.		176300	6299	1	1992												
137542	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.33	TUBB	30796135	30801174		Maeno, K.  et al. 2003	12893435				Tubulin, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178014.2			CDC GDPinfo	203068	Hs.533059			Cancer letters. 2003 Jul;198(1):89-97	Mutation of the class I beta-tubulin gene does not predict response to paclitaxel for breast cancer.		191130	20044	2	2003	Our results suggest that mutation of the class I beta-tubulin gene is unlikely to play an important role in the mechanism of resistance to paclitaxel in breast cancer.	Cohort 82 Japanese breast cancer patients 	paclitaxel									
137564	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203	0.01	Maraganore DM 2004	15048890	S18Y	Reduce dimerization of UCHL1	coding sequence	Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3	global		KGB	7345	Hs.518731			Annals of neurology. 2004 Apr;55(4):512-21	UCHL1 is a Parkinson's disease susceptibility gene.		191342	6320	1	2004		Case:1970; Control:2224										
137712	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Wenyi, Z.  et al. 2003	12830381				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1	Japanese	Japan	CDC GDPinfo	10911	Hs.162200			Diabetologia. 2003 Jul;46(7):972-6	Role of urotensin II gene in genetic susceptibility to Type 2 diabetes mellitus in Japanese subjects.		604097	20133	2	2003	These results strongly suggest that the S89N polymorphism in the UTS2 gene is associated with the development of Type 2 diabetes, via insulin sensitivity, in Japanese subjects.	Control:122/268 elderly subjects who met stringent criteria for being non-diabetic (n=122), including being older than 60 years of age with no evidence of diabetes (HbA(1c)<5.6%), and subjects with normal glucose:tolerance (n=268);Case:152 Japanese subjects with type 2 diabetes										
137738	Y	urolithiasis	METABOLIC	MET	Kidney Calculi|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Nishijima S et al. 2002	11956476				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of urology. 2002 May;167(5):2188-91	Association of vitamin D receptor gene polymorphism with urolithiasis.		601769	6383	1	2002	 The TaqI t allele of the VDR gene may be a risk factor for severe stone disease and recurrent stones.											
137776	Y	BsmI vitamin D receptor gene polymorphism	OTHER	OTH	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Kikuchi R et al. 1999	9914315				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Japanese	Japan	KGB	7421	Hs.524368			Calcified tissue international. 1999 Feb;64(2):102-6	Early and late postmenopausal bone loss is associated with BsmI vitamin D receptor gene polymorphism in Japanese women.		601769	6421	1	1999	We conclude that  there is a significant relationship between RFLPs of BsmI VDR and the annual rates of bone loss during early and late postmenopausal periods in the Japanese population.											
137829		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance|Metabolic Syndrome X	12	12q12-q14	VDR	46521586	46585081		Oh JY 2002	11887173				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian		Y Wang	7421	Hs.524368			Metabolism:  clinical and experimental. 2002 Mar;51(3):356-9	Association between vitamin D receptor polymorphism and type 2 diabetes or metabolic syndrome in community-dwelling older adults: the Rancho Bernardo Study.		601769	6476	1	2002												
138022		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Syndrome	12	12p13.3	VWF	5928300	6104097		Heywood DM 1996	8862946				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			Y Wang	7450	Hs.440848			Diabetic medicine. 1996 Aug;13(8):720-5	Levels of von Willebrand factor, insulin resistance syndrome, and a common vWF gene polymorphism in non-insulin-dependent (type 2) diabetes mellitus.		193400	6512	1	1996												
138040	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p16	WFS1	6322477	6355893		Minton JA et al. 2002	11916957				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2	U.K.	Great Britain	KGB	7466	Hs.518602			Diabetes. 2002 Apr;51(4):1287-90	Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.		606201	6515	1	2002	Our results provide the first evidence that variation in the WFS1 gene may influence susceptibility to type 2 diabetes.	Cohort 152 parent-offspring trios										
138044		diabetes, type 2; bipolar disorder	METABOLIC	MET	Wolfram Syndrome|Diabetes Mellitus, Type 2|Bipolar Disorder	4	4p16	WFS1	6322477	6355893		Kawamoto, T.  et al. 2004	15234338				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2	Japanese	Japan	CDC GDPinfo	7466	Hs.518602			Molecular genetics and metabolism. 2004 Jul;82(3):238-45	Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.		606201	20181	2	2004	These genetic variations and linkage disequilibrium patterns in WFS1 in Japanese should be useful in further investigation of genetic diversities of WFS1 and various related disorders.	Cohort patients with type 2 diabetes mellitus and patients with bipolar disorder 										
138077	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	22	22q12.1	XBP1	27520547	27526560		Kakiuchi, C.  et al. 2004	15298659	XBP1-116C/G			X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2	Japanese	Japan	CDC GDPinfo	7494	Hs.437638			Psychiatry and clinical neurosciences. 2004 Aug;58(4):438-40	Association of the XBP1-116C/G polymorphism with schizophrenia in the Japanese population		194355	14788	2	2004	Significant difference of genotype distribution was observed, which suggested that the -116C/C genotype is a protective factor for both of the major mental disorders.	Control:controls;Case:234 schizophrenic cases										
138087	Y	mild phenotype Xeroderma pigmentosum	OTHER	OTH	Xeroderma Pigmentosum|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Negishi I et al. 2002	12459522				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			KGB	7507	Hs.591907			European journal of dermatology. 2002 Nov-Dec;12(6):536-9	Compound heterozygosity for the Xeroderma pigmentosum complementation group A gene associated with a mild phenotype.		278700	6530	1	2002												
138565	Y	Parkinson's disease; cognition	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Foltynie, T.  et al. 2005	15772739	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Journal of neurology. 2005 Jul;252(7):833-8	The BDNF Val66Met polymorphism has a gender specific influence on planning ability in Parkinson's disease.		113505	8916	2	2005	We speculate that BDNF may interact with dopaminergic transmission and dopamine receptor stimulation in the frontostriatal circuitry, with subsequent consequences on cognition in Parkinson's disease.	Cohort 291 patients with Parkinson's disease 										
138625		C4A null haplotypes	HEMATOLOGICAL	HEM	Dysgammaglobulinemia|IgA Deficiency	6		C4	32090601	32111173		Bucin D et al. 1991	1817567				complement component 4A (Rodgers blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC063289			KGB	720	Hs.567243			Experimental and clinical immunogenetics. 1991 ;8(4):233-41	C4 polymorphism and major histocompatibility complex haplotypes in IgA deficiency: association with C4A null haplotypes.			1030	1	1991												
138665		metachronous triple carcinoma	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms|Neoplasms, Second Primary	9	9p21	CDKN2A	21957750	21965038		Motsch C 2004	14740307				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3	Dutch		KGB	1029	Hs.512599			Laryngo- rhino- otologie. 2004 Jan;83(1):55-60	Biallelic inactivation of the p16-Gen in a metachronous triple carcinoma in the oropharyngeal region , trans Biallelische Inaktivierung des p16-Gens bei metachronem Dreifachkarzinom im oropharyngealen Bereich.		600160	6917	1	2004	 This is the first report on p16-Leiden mutation in head and neck cancer. We provide evidence that the somatic methylation of p16 promotor is associated with the germline transmission of p16-Leiden mutation. This is an example for the rare event of in which aberrant methylation acting as the 'second hit' in a familial cancer syndrome. Our results show that this epigenetic event is equivalent to genetic alterations (mutation/LOH) confirming the Knudson's hypothesis for tumor suppressor gene inactivation.											
138791	Y	sarcoidosis; Lofgren's syndrome	OTHER	OTH	Arthralgia|Sarcoidosis, Pulmonary|Lymphatic Diseases|Erythema Nodosum|Syndrome	3	3p21	CCR2	46370363	46377429		Spagnolo, P.  et al. 2003	12882757				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			American journal of respiratory and critical care medicine. 2003 Nov;168(10):1162-6	C-C chemokine receptor 2 and sarcoidosis:association with Lofgren's syndrome.		601267	15636	2	2003	In conclusion, this report describes a strong association between CCR2 haplotype 2 and Lofgren's syndrome. Further studies are needed to understand the molecular mechanisms underlying this association.	Control:167:controls;Case:90/47 NON-Lofgren-sarcoidosis (n=90) and Lofgren's:syndrome (n=47) patients										
138994		diabetes, type 1	OTHER	OTH	Seizures|Coma|Diabetes Mellitus, Type 1|Iron Metabolism Disorders	3	3q23-q25	CP	150373221	150422519		Hatanaka Y 2003	12879954				Ceruloplasmin (ferroxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000096.1			KGB	1356	Hs.558314			Internal medicine (Tokyo, Japan). 2003 Jul;42(7):599-604	Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene.		117700	6880	1	2003												
139066		manganism, susceptibility to occupational chronic	OTHER	OTH	Manganese Poisoning|Occupational Diseases|Chronic Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Zheng, Y.  et al. 1999	11864457				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 1999 Mar;33(2):78-80	[Genetic polymorphism and susceptibility to occupational chronic manganism: a case-controlstudy]		124030	9962	2	1999	 It is possible that CYP2D6 gene may be a valuable susceptibility biomarker responded to Mn-induced central nervous system disorders in workers exposed to manganese.	Case:49 manganisms who were welders and ferromanganese smelters occupationally exposed to manganese dust and fume from three metallurgical industries;Control:50 healthy control subjects who were working same workshops were recruited.	alcohol smoking (tobacco)									
139160		treatment-related leukemia	CANCER	CAN	Neoplasms|Leukemia|Neoplasms, Second Primary	7	7q21.1	CYP3A4	99192539	99219744		Felix CA et al. 1998	9789061				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3		United States	KGB	1576	Hs.567254			Proceedings of the National Academy of Sciences of the United States of America. 1998 Oct;95(22):13176-81	Association of CYP3A4 genotype with treatment-related leukemia.		124010	6980	1	1998												
139489	Y	periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Sugita, N.  et al. 2001	11379895				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Japanese	Japan	CDC GDPinfo	2215	HS.372679			Journal of dental research. 2001 Mar;80(3):914-8	Increased frequency of FcgammaRIIIb-NA1 allele in periodontitis-resistant subjects in an elderly Japanese population.		610665	10661	2	2001	This suggests that FcgammaRIIIb-NA1 may be associated with resistance to periodontitis.	Control:46 periodontitis-resistant individuals;Case:73 periodontitis-susceptible individuals										
139546	Y	lung cancer and preneoplastic bronchial lesions	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Bronchial Neoplasms|Lung Neoplasms|Precancerous Conditions|Chromosome Fragility	3	3p14.2	FHIT	59710075	61212164		Fong KM et al. 1997	9187130			splice variant	Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			Cancer research. 1997 Jun;57(11):2256-67	FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations.		601153	7053	1	1997												
142456	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Aron Y et al. 1996	8842557	DR4 and DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Clinical and experimental allergy. 1996 Jul;26(7):821-8	Evidence of a strong positive association between atopy and the HLA class II alleles DR4 and DR7.		142857	7821	1	1996	 We observed that HLA-DR 4 and DR7 alleles are significantly implicated in their susceptibility to the disease and suggest that this susceptibility is more related to atopy than to specific responses to allergens. According to previous studies, we could also submit that in atopic patients with asthma, DR4 alleles at the least, could be more closely associated with atopy than with asthma per se. Conversely, we suggest that some allelic DQA1 and DQB1 sequences might confer protection against the disease.											
139697	N	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	n	Kim 2001	11069565	DRB1*1			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KCB	3123	Hs.534322			Clinical and experimental allergy. 2000 Nov;30(11):1568-75			142857	7072	1	2001	 HLA-DRB1 genes may be involved in the development of CRM-induced asthma. In addition, HLA-DR7 may increase, and DR4 decrease, the risk of developing the asthma in CRM-exposed adults.											
139740		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Yokoyama S 2004	2992270				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasians and US black		Y Wang	3123	Hs.534322			American journal of medical genetics. 1985 Aug;21(4):649-54	DNA polymorphism and the susceptibility to diabetes		142857	7115	1	2004												
140257		diabetes, type 2; kidney failure, chronic	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Bagwell, A. M.  et al. 2005	15793260				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Caucasian	United States	CDC GDPinfo	3172	Hs.116462			Diabetes. 2005 Apr;54(4):1185-90	Genetic analysis of HNF4A polymorphisms in Caucasian-American type 2 diabetes.		600281	11320	2	2005	Our results suggest that type 2 diabetes linked to 20q12-13 is a heterogeneous disease in which different populations may have different type 2 diabetes susceptibility loci.	Case:300 Caucasian type 2 diabetic patients with end-stage renal disease;Control:310 control subjects										
140417		cardiovascular	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Bruunsgaard H 2004	15036420				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Denmark	KGB	3569	Hs.512234			Experimental gerontology. 2004 Feb;39(2):255-61	The IL-6 -174G>C polymorphism is associated with cardiovascular diseases and mortality in 80-year-old humans.		147620	7259	1	2004	We conclude that  the IL-6 -174G>C polymorphism was an independent predictor of all-cause mortality in octogenarians but the effect was complex and interacted with the smoking status.											
140593	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Heart Valve Diseases|Ventricular Dysfunction, Left	21	21q22.1-q22.2	KCNE1	34740857	34806443		Lai, L. P.  et al. 2002	12228786	38G			Potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDPinfo	3753	Hs.121495			American heart journal. 2002 Sep;144(3):485-90	Association of the human minK gene 38G allele with atrial fibrillation: evidence of possible geneticcontrol on the pathogenesis of atrial fibrillation.		176261	12067	2	2002	 We report the association between the minK 38G allele and clinical atrial fibrillation. Our findings suggest possible genetic control on the pathogenesis of atrial fibrillation.	Case:108 patients with atrial fibrillation;Control:108 control subjects matched regarding age, sex, presence of valvular heart disease, and presence of left ventricular dysfunction										
140687		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Alguacil, J.  et al. 2003	14520703				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			International journal of cancer. Journal international du cancer. 2003 Nov;107(4):635-41	Occupational exposure to dyes, metals, polycyclic aromatic hydrocarbons and other agents and K-ras activation in human exocrine pancreatic cancer		190070	17958	2	2003	Results lend moderate support to the hypothesis of indirect relationships between occupational exposure to dyes and organic pigments and the activation of the K-ras gene in the etiopathogenesis of human exocrine pancreatic cancer.	Case:107 incident cases of exocrine pancreatic cancer	occupational exposures									
140946	N	Colorectal Hyperplastic Polyps.	CANCER	CAN	Adenoma|Colorectal Neoplasms|Colonic Polyps|Genetic Predisposition to Disease|Hyperplasia	1	1p36.3	MTHFR	11768373	11788702	ns	Ulrich CM et al. CEBP 2000;9:427-433	10794488	C677T	reduced MTHFR activity	coding sequence	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	case-control study (colonoscopy-screened, clinic-based)		KGB	4524	Hs.214142	colorectal polyps		Cancer epidemiology, biomarkers & prevention. 2000 Apr;9(4):427-33	Lack of association between the C677T MTHFR polymorphism and colorectal hyperplastic polyps		607093	7403	1	2000		Case:200; Control:645										
140972	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Imamura, A.  et al. 2004	15494775				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Japan	CDC GDPinfo	4524	Hs.214142			The Canadian journal of cardiology. 2004 Oct;20(12):1229-34	Endothelial nitric oxide synthase and methylenetetrahydrofolate reductase gene polymorphisms are associated with endothelial dysfunction in young, healthy men.		607093	12851	2	2004	 The data suggest that even in young men, the eNOS Asp298 allele may be involved in endothelial dysfunction before any overt vascular disease has occurred. Furthermore, a combination of the eNOS Asp298 and MTHFR T677 alleles may exaggerate endothelial dysfunction and may contribute to a comparatively earlier development of atherosclerosis.	Cohort 53 young healthy men 										
141191	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Kumimoto, H.  et al. 2002	11802801				V-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			CDC GDPinfo	4610	Hs.437922			Japanese journal of cancer research. 2002 Jan;93(1):5-Jan	L-myc genotype is associated with different susceptibility to lung cancer in smokers.		164850	18475	2	2002	The OR for smoking in SS-genotype patients diagnosed within 2 years was higher than that in other SS patients, suggesting that smoking-related lung cancer in SS genotype might exhibit a poorer prognosis.	Case:191 Japanese smoking-related lung cancer patients;Control:241 non-cancer controls										
141195	Y	lymph node involvement and other histopathological indicators of high metastatic potential	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis	17	17q21.3	NME1	46585918	46604104		Bevilacqua G et al. 1989	2475243				Non-metastatic cells 1, protein (NM23A) expressed in	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000269.2			KGB	4830	Hs.463456			Cancer research. 1989 Sep;49(18):5185-90	Association of low nm23 RNA levels in human primary infiltrating ductal breast carcinomas with lymph node involvement and other histopathological indicators of high metastatic potential.		156490	7418	1	1989	We conclude that  nm23 RNA levels are differentially expressed in human breast tumors, and that low nm23 RNA levels are associated with histopathological indication of high metastatic potential. Short term (median follow-up of 16 months) clinical course data were consistent with nm23 RNA levels, in that 2 of 11 low nm23 RNA content patients (including one from the 0 involved lymph node group) developed metastases, while none of the high nm23 RNA patients have experienced recurrent disease.											
141210	Y	Hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609	p < 0.0001	Tsujita Y 2001	11677358	???			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese	Japan	KGB	4846	Hs.511603			Journal of hypertension. 2001 Nov;19(11):1941-8	Association analyses between genetic polymorphisms of endothelial nitric oxide synthase gene and hypertension in Japanese: The Suita Study.		163729	7423	1	2001	Our data suggested that these polymorphisms of the eNOS gene are unlikely to be major factors in the susceptibility to hypertension in the Japanese population studied.	Cohort 4055 Japanese individuals from a large population-based sample										
141237	Y	end stage renal disease	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Suzuki H et al. 2000	11067831				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Clinical chemistry. 2000 Nov;46(11):1858-60	Association of a missense Glu298Asp mutation of the endothelial nitric oxide synthase gene with end stage renal disease.		163729	7450	1	2000	In conclusion, Glu298Asp mutations of the eNOS gene are significantly increased not only in nondiabetic ESRD but also in ESRD associated with diabetic nephropathy. The Glu298Asp mutation may be a risk factor, but additional studies, such as in vitro measurements of eNOS activity using cultured endothelium are required.	Case:159 Japanese patients with endstage renal disease undergoing maintenance hemodialysis (96 men and 63:women);Control:270 Japanese genetically unrelated, apparently healthy control subjects (195 men and 75 women)										
141261	Y	vasospastic angina associated	OTHER	OTH	Angina Pectoris|Coronary Vasospasm|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fukuda N et al. 2003	12678200				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Angiology. 2003 Mar-Apr;54(2):233-7	A young girl with vasospastic angina associated with mutation in endothelial nitric oxide synthase gene--a case report.		163729	7474	1	2003												
141271	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609	n	Monastero R et al. 2003	12697290				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Italian	Italy	KGB	4846	Hs.511603			Neuroscience letters. 2003 May;341(3):229-32	No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.		163729	7484	1	2003	The NOS3 Glu298Asp polymorphism does not appear to influence the risk of developing sAD in an Italian population.	Case:149 sporadic Alzheimer's disease patients;Control:149 age and sex matched controls										
141274	N	renal disease	OTHER	OTH	Kidney Diseases|Polycystic Kidney, Autosomal Dominant|Hypertension	7	7q36	NOS3	150319079	150342609	n	Walker D et al. 2003	12500225				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			American journal of kidney diseases. 2003 Jan;41(1):90-4	The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1.		163729	7487	1	2003	 Although the D298 ENOS allele may be associated with lower vascular activity of eNOS, this did not correlate with severity of renal disease in this PKD1 population. An important difference between this study and one finding a modifying role for ENOS was the rigor in defining the PKD1 population. This study shows the importance of using mutation-characterized populations for association studies in ADPKD.											
141282	Y	diabetes, type 2	METABOLIC	MET	Cardiovascular Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Insulin Resistance	7	7q36	NOS3	150319079	150342609		Monti LD et al. 2003	12716763				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Diabetes. 2003 May;52(5):1270-5	Endothelial nitric oxide synthase polymorphisms are associated with type 2 diabetes and the insulin resistance syndrome.		163729	7495	1	2003	In conclusion, we described a significant association between eNOS gene polymorphisms and type 2 diabetes, suggesting a new genetic susceptibility factor for hyperinsulinemia, insulin resistance, and type 2 diabetes.	Case:159 type 2 diabetic patients without macrovascular:complications;Control:207 healthy controls										
141380	Y	Behcet's disease; vasculitis	IMMUNE	IMM	Rheumatic Diseases|Behcet Syndrome|Vasculitis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Kim, J. U.  et al. 2003	14583572				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDPinfo	4846	Hs.511603			Annals of the rheumatic diseases. 2003 Nov;62(11):1083-7	Endothelial nitric oxide synthase gene polymorphisms in Bechet's disease and rheumatic diseases with vasculitis.		163729	12813	2	2003	 The Glu298Asp polymorphism in exon 7 of the eNOS gene seems to be a susceptibility gene for Korean BD and other rheumatic diseases.	Case:65/27 patients with Behcet's disease (n=65) and rheumatic diseases with vasculitis (n=27):Korea;Control:80:controls										
141393	Y	carotid intima-media thickness	CARDIOVASCULAR	CARD	Arteriosclerosis	7	7q36	NOS3	150319079	150342609		Paradossi, U.  et al. 2004	15073390				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2004 Jun;35(6):1305-9	Endothelial Function and Carotid Intima-Media Thickness in Young Healthy Subjects Among Endothelial Nitric Oxide Synthase Glu298->Asp and T-786->C Polymorphisms		163729	12827	2	2004	 The eNOS Glu298-->Asp polymorphism may be related to early atherogenesis.	Cohort 118 healthy young nonsmoker subjects (30.1+/-0.5 years) 										
141428		acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Acute Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			15801202	T-786C		promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Ukraine	CDC GDPinfo	4846	Hs.511603			Fiziol Zh. 2005 ;51(1):72-6	[Allelic polymorphism of endothelial NO-synthase (T(-786)-->C) promoter gene as risk factor of acute coronary syndrome]		163729	12870	2	2005	This allows us to suggest, that this allelic polymorphism can be considered as one of genetic risk factors of ACS development.	Case:221 Ukrainian patients with acute coronary syndrome;Control:83 almost healthy subjects										
141508		blood pressure, arterial; left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	7	7q36	NOS3	150319079	150342609		Zhu, H.  et al. 2005	16041245				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Pharmacogenetics and genomics. 2005 Sep;15(9):669-75	Influence of the eNOS gene on development of blood pressure and left ventricular mass: longitudinalfindings in multiethnic youth.		163729	18650	2	2005	 our results suggest that eNOS gene may have gender-specific and age-dependent effects on DBP and the development of hypertension risk.											
141633	Y	urolithiasis	METABOLIC	MET	Urinary Calculi|Recurrence	10	10q24	PLAU	75340895	75347261		Tsai FJ et al. 2002	11880102				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			KGB	5328	Hs.77274			Urology. 2002 Mar;59(3):458-61	Urokinase gene 3'-UTR T/C polymorphism is associated with urolithiasis.		191840	7522	1	2002	 The results of our study demonstrate that the urokinase gene 3'-UTR T allele is associated with calcium stone disease. Individuals possessing the T allele have a higher incidence of calcium oxalate stone disease. The results of this study provide genetic evidence that the urokinase gene may play a role in stone formation.	Control:105 controls not otherwise specified;Case:153 patients with recurrent calcium stones										
141638	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Huang, C. M.  et al. 2004	15083890				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Chinese	Taiwan	CDC GDPinfo	5328	Hs.77274			Clinical and experimental rheumatology. 2004 Mar-Apr;22(2):219-22	Association between urokinase gene 3'-UTR T/C polymorphism and Chinese patients with rheumatoid arthritis in Taiwan		191840	13153	2	2004	 The urokinase gene 3'-UTR T allele was associated with RA in Chinese patients in Taiwan.	Control:134 healthy controls;Case:145 Chinese rheumatoid arthritis patients:Taiwan										
141652	Y	plasma total and LDL-apolipoprotein B	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipoproteinemias	22	22q12-q13.1	PPARA	44925162	45018317	0.02	Vohl MC 2000	10828087	V162 allele			peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			KGB	5465	Hs.103110			Journal of lipid research. 2000 Jun;41(6):945-52			170998	5067	1	2000												
141667		liver steatosis, Hepatitis C virus-related; steatohepatitis, nonalcoholic	OTHER	OTH	Hepatitis C, Chronic|Fatty Liver|Diabetes Mellitus, Type 2|Hyperlipidemias	22	22q12-q13.1	PPARA	44925162	45018317		Verdi, H.  et al. 2005	16297361	L162V			Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Journal of investigative medicine. 2005 Nov;53(7):353-9	Peroxisome Proliferator-Activated Receptor alpha L162V Polymorphism in Nonalcoholic Steatohepatitis and Genotype 1 Hepatitis C Virus-Related Liver Steatosis.		170998	13290	2	2005	 Neither NASH nor genotype 1 HCV-related liver steatosis seems to be associated with the PPARalpha L162V polymorphism. This polymorphism may have no association with the presence of type 2 diabetes mellitus, obesity, or various blood lipid alterations in NASH and HCV-infected patients.											
141672	Y	coronary artery disease; coronary atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Arteriosclerosis|Coronary Arteriosclerosis|Disease Progression|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Flavell, D. M.  et al. 2002	11914252				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		Finland|Great Britain	CDC GDPinfo	5465	Hs.103110			Circulation. 2002 Mar;105(12):1440-5	Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease.		170998	19024	2	2002	 The PPARalpha gene affects progression of atherosclerosis and risk of IHD. Absence of association with plasma lipid concentrations suggests that PPARalpha affects atherosclerotic progression directly in the vessel wall.	Cohort healthy middle-aged men in the United Kingdom from the second Northwick Park Heart Study (NPHS2) Cohort Lopid Coronary Angiography Trial (LOCAT) participants 										
141753	Y	body mass; cholesterol; triglycerides; blood pressure	METABOLIC	MET	Hypertension|Hypertriglyceridemia|Obesity	16	16p13.11	ACSM3	20682812	20715980		Iwai, N.  et al. 2002	11772874				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3			CDC GDPinfo	6296	Hs.642666			Circulation. 2002 Jan;105(1):41-7	Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension.		145505	15009	2	2002	 The G allele of SAH was found to be associated with multiple risk factors, including hypertriglyceridemia, hypercholesterolemia, obesity, and hypertension. This observation should open a new area for future research in multiple-risk-factor syndromes.	Cohort 4000 subjects representing the general population of Japan Japan 										
141776	Y	respiratory distress syndrome	OTHER	OTH	Respiratory Distress Syndrome, Newborn	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Kala P et al. 1998	9475280				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			KGB	6435	Hs.523084			Pediatric research. 1998 Feb;43(2):169-77	Association of pulmonary surfactant protein A (SP-A) gene and respiratory distress syndrome: interaction with SP-B.		178630	5383	1	1998	We conclude that  1) the genetic analyses of RDS and SP-A locus should be performed separately for black and white populations and 2) SP-A alleles/genotypes and SP-B variant may contribute to the etiology of RDS and/or may serve as markers for disease subgroups.											
141839	Y	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA|Kidney Failure, Chronic|Disease Progression	14	14q11.2	TRA@	21180965	21181646		Deenitchina SS et al. 1999	10430975				T cell receptor alpha locus		Japanese	Japan	KGB	6955	Hs.74647			American journal of kidney diseases. 1999 Aug;34(2):279-88	Association of a T-cell receptor constant alpha chain gene polymorphism with progression of IgA nephropathy in Japanese patients.		186880	5752	1	1999												
141894	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Disease Progression|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Zhang, Z.  et al. 2004	15585623				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Clinical cancer research. 2004 Dec;10(23):7903-10	Thymidylate synthase 5'- and 3'-untranslated region polymorphisms associated with risk and progression of squamous cell carcinoma of the head and neck.		188350	14567	2	2004	 The TSER and TS3'UTR polymorphisms are associated with SCCHN risk. The TSER 3R and TS3'UTR 0bp alleles seemed to jointly protect against SCCHN. In particular, the 0bp allele seemed to protect against oral cancer progression.	Control:1,085 controls, frequency matched by age, sex, and:ethnicity;Case:704 squamous cell carcinoma of the head and neck cases from a hospital-based study		MTHFR		TYMS				Y		"cardiovascular disease, neural tube defects"
141966	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17q21.3	ERDA1				Del-Favero, J.  et al. 2002	12032737				expanded repeat domain, CAG/CTG 1			Europe	CDC GDPinfo	9030				European journal of human genetics. 2002 Apr;10(4):276-80	European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder.		603279	16536	2	2002	We conclude that  the ERDA-1 locus is not related to the BP phenotype while expanded alleles at the CTG18.1 locus cannot be excluded as a vulnerability factor for BP disorder.	Case bipolar disorder cases;Control matched controls										
142006		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	3	3p21.3	NAT6	50305265	50311903		Duh, F. M.  et al. 2004	15036368				N-acetyltransferase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC051750		Asia	CDC GDPinfo	24142	Hs.129910			Molecular and cellular probes. 2004 Feb;18(1):39-44	Characterization of a new SNP c767A/T (Arg222Trp) in the candidate TSG FUS2 on human chromosome 3p21.3: prevalence in Asian populations andanalysis of association with nasopharyngeal cancer.		607073	18524	2	2004	Our analysis, albeit limited, suggests no likely association between NPC and the FUS2 gene polymorphism. Further large-scale case-control studies are necessary and warranted to prove the strength of this contention.	Cohort 254 subjects with nasopharyngeal cancer from 14 sub-populations 										
142033		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Miraglia del Giudice, E.  et al. 2004	14724664				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Italian		CDC GDPinfo	51738	Hs.590080			International journal of obesity and related metabolic disorders. 2004 Mar;28(3):447-50	Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associatedwith an earlier onset of obesity.		605353	16909	2	2004	 It is unlikely that ghrelin variations cause the obesity due to single-gene mutations. The Leu72Met polymorphism of the ghrelin gene seems to play a role in anticipating the onset of obesity among children suggesting, therefore, that ghrelin may be involved in the pathophysiology of human adiposity.	Control:200:controls;Case:300 Italian obese children and adolescents										
142086		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A4	234191029	234346690		Ehmer, U.  et al. 2004	15057901				UDP glycosyltransferase 1 family, polypeptide A4				CDC GDPinfo	54657	HS.278896			Hepatology (Baltimore, Md). 2004 Apr;39(4):970-7	Variation of hepatic glucuronidation: Novelfunctional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.		606429	25750	2	2004	Two polymorphisms of the hepatic UGT1A4 protein show a differential metabolic activity toward mutagenic amines and endogenous steroids, altering hepatic metabolism and detoxification.	Case:128 patietns with hepatocellular carcinoma;Control:235 blood donors										
142180		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|HIV Seropositivity|Disease Progression|Genetic Predisposition to Disease	22	22q13.1-q13.2	APOBEC3G	37803081	37813694		Do, H.  et al. 2005	15609224				Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092614	French		CDC GDPinfo	60489	Hs.474853			The Journal of infectious diseases. 2005 Jan;191(2):159-63	Exhaustive Genotyping of the CEM15 (APOBEC3G) Gene and Absence of Association with AIDS Progression in a French Cohort		607113	15249	2	2005	There were no significant associations between the polymorphisms or haplotypes of CEM15 and a disease progression phenotype in our cohort.	Case:327 HIV-1-seropositive patients with extreme disease progression phenotypes--either slow progression or rapid progression;Control:446 healthy Caucasian control subjects										
142416	Y	diffuse panbronchiolitis	OTHER	OTH	Bronchiolitis|Genetic Predisposition to Disease	6		HLA	29903802	30085613		Park MH et al. 1999	9927368						Korean	Japan|Korea	KGB					American journal of respiratory and critical care medicine. 1999 Feb;159(2):526-9	Association of HLA class I antigens with diffuse panbronchiolitis in Korean patients.			7781	1	1999												
142488		juvenile ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Arthritis, Juvenile Rheumatoid|Iridocyclitis|Disease Susceptibility	6		HLA	29903802	30085613		Ploski R et al. 1995	8847233								KGB					Human immunology. 1995 Oct;44(2):88-96	Association to HLA-DRB1*08 HLA-DPB1*0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis.			7853	1	1995	We conclude that  in JAS, in addition to the association to B27, there are also weaker but distinct associations to the DRB1*08, DPB1*0301 alleles and homozygosity for LMP2b.											
142512	Y	diabetes mellitus	METABOLIC	MET	Autoimmune Diseases|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Fathman CG et al. 1984	6333238	HLA-DR3, DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Behring Institute Mitteilungen. 1984 Jul;(75):89-99	The HLA association of insulin-dependent (type I) diabetes mellitus.		142857	7877	1	1984												
142532	Y	Lupus	IMMUNE	IMM	Glomerulonephritis, Membranoproliferative|Lupus Erythematosus, Systemic	6		HLA	29903802	30085613		Bishof NA et al. 1993	8100139								KGB					Pediatric nephrology (Berlin, Germany). 1993 Jun;7(3):243-6	DP polymorphism in HLA-A1 -B8 -DR3 extended haplotypes associated with membranoproliferative glomerulonephritis and systemic lupus erythematosus.			7897	1	1993	We conclude that  the strong linkage disequilibrium of this haplotype breaks down between the DQ and DP loci. Loci important to disease susceptibility, therefore, are more likely to occur telomeric to DP.											
142550	N	IgA nephropathy	IMMUNE	IMM	Glomerulonephritis, IGA	6		HLA	29903802	30085613	n	Moore RH et al. 1992	1314989								KGB					Nephrology, dialysis, transplantation. 1992 ;7(3):200-4	HLA-DP region gene polymorphism in primary IgA nephropathy: no association.			7915	1	1992												
142848		hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	M		MT-ND5				Kong, W.  et al. 2002	12772452								CDC GDPinfo					Zhonghua er bi yan hou ke za zhi. 2002 Oct;37(5):338-42	[Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss]		516005	18438	2	2002	 MtDNA4977 deletion had a high detection rate in patients with NSSNHL. MtDNA1555A-->G mutation and mtDNA3243A-->G point mutation may not be common mutations in patients with NSSNHL.	Control:19 control subjects;Case:61 sporadic non-syndromic sensorineural hearing los:pateints										
142852		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	M		MT-ND1				Momiyama, Y.  et al. 2003	14680844								CDC GDPinfo					Biochemical and biophysical research communications. 2003 Dec;312(3):858-64	A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes.		516000	18442	2	2003	A common mtDNA variant at 16,189 was found to be associated with LVH in diabetic patients.	Control:100:controls;Case:68/100 diabetic patients with left ventricular hypertrophy (n=68) and without (n=100)										
142881		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	M		MT-TL1				Momiyama, Y.  et al. 2003	14680844								CDC GDPinfo					Biochemical and biophysical research communications. 2003 Dec;312(3):858-64	A mitochondrial DNA variant associated with left ventricular hypertrophy in diabetes.		590050	23052	2	2003	A common mtDNA variant at 16,189 was found to be associated with LVH in diabetic patients.	Control:100:controls;Case:68/100 diabetic patients with left ventricular hypertrophy (n=68) and without (n=100)										
142861		ototoxicity	OTHER	OTH	Osteosarcoma|Germinoma|Medulloblastoma|Neuroblastoma|Bone Neoplasms|Brain Neoplasms|Hearing Loss, Sensorineural|Optic Atrophy, Hereditary, Leber|Genetic Predisposition to Disease	M		MT-RNR1				Peters, U.  et al. 2003	12820379								CDC GDPinfo					Anticancer research. 2003 Mar-Apr;23(2B):1249-55	Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin.		561000	18457	2	2003	 The linkage of cisplatin-induced hearing impairment to the mitochondrial haplogroup J, which is also associated with the mitochondrially-mediated Leber's Hereditary Optic Neuropathy, might act as a predisponsing genetic background for biochemical differences in mitochondria.	Control:19 patients without hearing impairment under therapeutic doses of cisplatin;Case:20 patients with hearing impairment under therapeutic doses of cisplatin	cisplatin									
142878		stroke	CARDIOVASCULAR	CARD	MELAS Syndrome|Cerebrovascular Accident	M		MT-TL1				Pulkes, T.  et al. 2000	11145497								CDC GDPinfo					Lancet. 2000 Dec;356(9247):2068-9	Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.		590050	23049	2	2000	We showed that a polymorphism, A12308G, in tRNA(Leu(CUN)) increases the risk of developing stroke in patients with the A3243G mutation (relative risk=2.17). This may have implications for genetic counselling.	Cohort 48 unrelated cases with the A3243G mutation 										
115436		colon cancer	CANCER	CAN	Colonic Neoplasms|Genomic Instability	2	2q22.3	ACVR2A	148318654	148404863		Jung B et al. 2006	16380996				activin A receptor, type IIA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001616.3			CDC GDPinfo	92	Hs.470174			International journal of cancer Journal international du cancer. 2005	Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers		102581	19840	2	2005												
114491		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12p13.3-p12.3	A2M	9111570	9159825		Gonzalez P et al. 2002	12394648				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Coronary artery disease. 2002 Aug;13(5):251-4	Variation in the lipoprotein receptor-related protein alpha2-macroglobulin and lipoprotein receptor-associated protein genes in relation to plasma lipid levels and risk of early myocardial infarction.		103950	7030	1	2002	 According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI.	Control:200 healthy controls;Case:210 patients with early myocardial infarction (<55:years)										
114848	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Yoshioka, K.  et al. 2004	15334388	G276T			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese		CDC GDPinfo	9370	Hs.80485			Metabolism:  clinical and experimental. 2004 Sep;53(9):1223-6	Adiponectin gene polymorphism (G276T) is not associated with incipient diabetic nephropathy in Japanese type 2 diabetic patients		605441	8459	2	2004	These data suggest that SNP276 of the adiponectin gene is not an independent risk factor for incipient diabetic nephropathy in Japanese type 2 diabetic patients.	Case:108 Japanese type 2 diabetic patients with microalbuminuria (urinary albumin creatinine ratio [ACR] between 30 mg/g. Cr and 300 mg/g. Cr; case:subjects);Control:208 Japanese type 2 diabetic patients with normoalbuminuria (ACR < 30 mg/g. Cr; control:subjects)										
116828		cholesterol; cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Crews, D. E.  et al. 2004	15252864				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDPinfo	337	Hs.591940			American journal of physical anthropology. 2004 Aug;124(4):364-72	Population genetics of apolipoproteins A-IV, E, and H, and the angiotensin converting enzyme (ACE):associations with lipids, and apolipoprotein levels in American Samoans.		107690	20442	2	2004	The interaction term between ACE and APO E was also significantly associated with total-c and APO E levels, and the ACE genotype showed a significant main effect on APO AI levels in multivariate analyses.	Cohort 274 American Samoans 										
116841		LDL particle size and triglyceride	METABOLIC	MET	Hyperlipidemias	11	11q23	APOA5	116165295	116167794		Austin MA 2004	14732475				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Japanese	Japan	KGB	116519	Hs.283923			Biochimica et biophysica acta. 2004 Jan;1688(1):9-Jan	Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans.		606368	6853	1	2004	The frequency of the rare allele was higher than reported for Caucasian, Hispanic, and African Americans, but similar to that in Japan and China. Therefore, the haplotype containing the -1131C and -3G variants, and possibly specifically the -3A>G SNP in APOA5, may be a major genetic determinant of LDL particle size and TG levels among ethnic Asians.	Control:24 matched normotriglyceridemic controls;Case:24 hypertriglyceridemic subjects										
138541		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Hong, C. J.  et al. 2003	12951204	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuroscience letters. 2003 Oct;349(3):206-8	An association study of a brain-derived neurotrophic factor Val66Met polymorphism and clozapine response of schizophrenic patients.		113505	8891	2	2003	Our finding suggests that this BDNF-gene Val66Met polymorphism may be related to schizophrenia pathogenesis in patients responsive to clozapine treatment.	Control:198 normal controls;Case:93 schizophrenic patients	clozapine									
118433		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic	17	17q11.2-q21.1	CCL2	29606408	29608333			16362156	-2518			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Japanese	Japan	CDC GDPinfo	6347	Hs.303649			Clinical and experimental nephrology. 2005 Dec;9(4):297-303	Monocyte chemoattractant protein-1 A-2518G gene polymorphism and renal survival of Japanese patients with immunoglobulin A nephropathy		158105	9070	2	2005	 The AA genotype at MCP-1 -2518 was an independent risk factor for the progression of renal disease in Japanese patients with IgAN, and was closely associated with renal survival.											
121011		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Peyvandi, F.  et al. 2004	15001971				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Mar;75(3):198-203	CYP2C9 genotypes and dose requirements during the induction phase of oral anticoagulant therapy.		601130	16160	2	2004	 The requirement of smaller doses of warfarin in relation to CYP2C9 polymorphisms is already manifest on the fourth day of treatment, at the time of the first INR estimate. CYP2C9 genotyping is as yet not warranted, but frequent INR monitoring with appropriate dose adjustments is recommended during the first 3 weeks of treatment to avoid overanticoagulation and the inherent risk of bleeding in carriers of variant alleles.	Cohort 125 patients who started therapy with warfarin in a clinical center where physicians used the same approach for dosing and frequency of monitoring 	warfarin									
121109	N	preterm delivery	REPRODUCTION	REP		10	10q24.3-qter	CYP2E1	135190856	135224714		Wu, B. Y.  et al. 2003	12939804				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Yi chuan xue bao. 2003 Jun;30(6):577-83	[Associations of Rsa I polymorphism at the 5' flanking region of CYP2E1 and PON2 148 polymorphism in neonates with preterm delivery]		124040	13265	2	2003	In conclusion, Rsa I polymorphism at the 5' flanking region of CYP2E1 in neonates is not associated with preterm delivery, however, PON2 148 polymorphism in neonates is significantly associated with preterm delivery. Furthermore, the gene interaction between Rsa I polymorphism at the 5' flanking region of CYP2E1 and PON2 148 polymorphism in neonates is significantly associated with preterm delivery.	Case singleton preterm mother-neonate pairs;Control singleton term live born mother-neonate pairs										
121937	Y	glaucoma; glaucoma, primary open-angle	VISION	VIS	Vision Disorders|Glaucoma, Open-Angle	6	6p24.1	EDN1	12398644	12404763		Ishikawa, K.  et al. 2005	15988412				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDPinfo	1906	Hs.511899			Molecular vision [electronic resource]. 2005 Jun;11:431-7	Association between glaucoma and gene polymorphism of endothelin type A receptor.		131240	10242	2	2005	 The polymorphism of EDNRA/C+70G may be related to NTG risk factors.											
123827		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	2	2q36-q37	GCG	162707633	162717003		Yagi T 1996	8911786				Glucagon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002054.2	Japanese	Japan	Y Wang	2641	Hs.516494			Diabetic medicine. 1996 Oct;13(10):902-7	A population association study of four candidate genes (hexokinase II, glucagon-like peptide-1 receptor, fatty acid binding protein-2, and apolipoprotein C-II) with type 2 diabetes and impaired glucose tolerance in Japanese subjects.		138030	2795	1	1996												
142613		Asthma	IMMUNE	IMM	Asthma|Drug Hypersensitivity	6	6p21.3	HLA-DQB1	32735641	32742374		Mullarkey 1986	3456217	HLA-DQw2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KCB	3119	Hs.409934			The American review of respiratory disease. 1986 Feb;133(2):261-3			604305	7979	1	1986												
139931		retinopathy, diabetic; diabetes, type 1	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Mimura, T.  et al. 2005	16157380				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Ophthalmology. 2005 Nov;112(11):1904-9	Glutamic acid decarboxylase autoantibody prevalence and association with HLA genotype in patients with younger-onset type 1 diabetes and proliferative diabetic retinopathy.		142857	22179	2	2005	 We found that the existence of GAD antibodies is inversely related and HLA status is directly related to the stage or severity of retinopathy.											
142399	Y	Graves disease	IMMUNE	IMM	Graves Disease|Hypergammaglobulinemia	6	6p21.3	HLA-DRB1	32593131	32665559		Poncet D et al. 1982	6896102	DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Tissue antigens. 1982 Jan;19(1):20-4	Association of hypergammaglobulinemia G with HLA-DR3 in Graves' disease.		142857	7764	1	1982												
142617		atopy	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Cardaba B et al. 1993	7908014	DR7			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322	immunoglobulin-E response to the main antigen of olive pollen (Ole e I)		Human immunology. 1993 Dec;38(4):293-9	DR7 and DQ2 are positively associated with immunoglobulin-E response to the main antigen of olive pollen (Ole e I) in allergic patients.		142857	7983	1	1993												
126656	N	psychotic symptomatology of mood disorders	PSYCH	PSY	Mood Disorders	13	13q14-q21	HTR2A	46305513	46368995	n	Serretti A et al. 1999	10482339	SNP		unknown	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Italian (Caucasian)		Serretti	3356	Hs.72630	psychotic symptomatology		Psychiatry research. 1999 Jun;86(3):203-9	No association between serotonin-2A receptor gene polymorphism and psychotic symptomatology of mood disorders.		182135	3282	1	1999		Case:UP: 97; BP: 149										
127575		graft versus host disease	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Daly, A. K.  et al. 2002	12083951				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			American journal of pharmacogenomics. 2002 ;2(1):13-23	Polymorphisms in immunoregulatory genes: towardsindividualized immunosuppressive therapy?		124092	26249	2	2002	Review article											
127725		asthma; allergies	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Vercelli, D.   2002	12582321				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Current opinion in allergy and clinical immunology. 2002 Oct;2(5):389-93	Genetics of IL-13 and functional relevance of IL-13 variants.		147683	17707	2	2002	Review article											
127703	Y	asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		van der Pouw Kraan, T. C.  et al. 1999	11197307			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Genes and immunity. 1999 Sep;1(1):61-5	An IL-13 promoter polymorphism associated with increased risk of allergic asthma		147683	11689	2	1999	We postulate that the presence of this polymorphism predisposes to the development of allergic asthma.											
142564	Y	coronary artery disease	CARDIOVASCULAR	CARD	Chlamydophila Infections|Coronary Artery Disease|Disease Progression	18	18q21.3-q22	LMAN1	55148087	55177461		Rugonfalvi-Kiss S et al. 2002	12196331					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2		Hungary	KGB	3998	Hs.465295			Circulation. 2002 Aug;106(9):1071-6	Association of Chlamydia pneumoniae with coronary artery disease and its progression is dependent on the modifying effect of mannose-binding lectin.		601567	7929	1	2002	 These results indicate that infection with C pneumoniae leads mainly to the development and progression of severe CAD in patients with variation in the MBL gene.											
130487	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Gupta M 2004	12691706				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Swedish Caucasians	Sweden	Y Wang	4276	Hs.549053			Human immunology. 2003 May;64(5):553-61	Association between the transmembrane region polymorphism of MHC class I chain related gene-A and type 1 diabetes mellitus in Sweden.		600169	4519	1	2003	In conclusion, MIC-A5 is associated with T1DM; the association was higher in individuals	Control:503 matched controls;Case:635 type 1 diabetic patients										
131864	N	obesity	METABOLIC	MET	Obesity	4	4q31	NPY2R	156349230	156357678		Hung, C. C.  et al. 2004	15331560				Neuropeptide Y receptor Y2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000910.2			CDC GDPinfo	4887	Hs.37125			Diabetes. 2004 Sep;53(9):2461-6	Studies of the peptide YY and neuropeptide Y2 receptor genes in relation to human obesity and obesity-related traits		162642	19210	2	2004	In conclusion, mutations in PYY and Y2R are not commonly found in humans with severe early-onset obesity. The relationship between common variants in Y2R and obesity-related traits deserves further exploration in other populations.	Control:100 normal-weight white control subjects;Case:101 severe early-onset obese subjects with a history of:hyperphagia										
134604		insulin resistance	METABOLIC	MET	Metabolic Syndrome X	9	9q34.11	SLC27A4	130142660	130163323		Gertow K 2004	14715877				Solute carrier family 27 (fatty acid transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005094.2		Sweden	KGB	10999	Hs.495227			The Journal of clinical endocrinology and metabolism. 2004 Jan;89(1):392-9	Genetic and structural evaluation of fatty acid transport protein-4 in relation to markers of the insulin resistance syndrome.		604194	6683	1	2004												
130219	Y	pigmentation	OTHER	OTH		5	5p13.3	SLC45A2	33980477	34020537		Graf, J.  et al. 2005	15714523				solute carrier family 45, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016180.3			CDC GDPinfo	51151	Hs.278962			Human mutation. 2005 Mar;25(3):278-84	Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.		606202	13780	2	2005	This is the first report of this highly significant association of MATP polymorphisms with normal human pigmentation variation.	Cohort 608 individuals from four different population groups (456 Caucasians, 31 Asians, 70 African-Americans, and 51 Australian Aborigines) 										
143102	Y	Nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Pharmacogenet Genomics. 2006 Jan;16(1):15-23	16344718	TH01			tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2				7054	Hs.435609	smoking initiation		Pharmacogenetics and genomics. 2006 Jan;16(1):15-23	A study of TH01 and IGF2-INS-TH haplotypes in relation to smoking initiation in three independent surveys.		191290			2006	 This study adds to the genetic evaluation of the associations of TH01 with smoking predisposition. Differences between historical and prospective surveys, different biological pathways and possible functional roles of this microsatellite in smoking initiation are discussed.											
137287		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Frank, B.  et al. 2005	15987456				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Breast cancer research. 2005 ;7(4):R502-5	TP53-binding protein variants and breast cancer risk: a case-control study.		191170	25725	2	2005	 The lack of association casts doubt on the putative effects of D353E, G412S, and K1136Q on breast cancer risk. Investigating a larger study cohort might elucidate the influence of the 6bp deletion 1347_1352delTATCCC. Studying the functional effect and the impact of this variant on the risk of other cancers may be revealing.											
131352	N	Breast Cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003	n	Delfino RJ 2000	10898115				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			TJB	10	Hs.2			Pharmacogenetics. 2000 Jul;10(5):461-9			243400	19	1	2000		Case:113; Control:278										
132202	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	9	9p13.3	OPRS1	34624718	34627768		Satoh, F.  et al. 2004	15298647				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2			CDC GDPinfo	10280	Hs.522087			Psychiatry and clinical neurosciences. 2004 Aug;58(4):359-63	Lack of association between sigma receptor gene variants and schizophrenia		601978	18777	2	2004	These findings suggest that these SIGMAR1 variants may not affect susceptibility to schizophrenia.	Case:100 schizophrenic cases;Control:104 control subjects										
138662		acute lymphoblastic leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	9	9p21	CDKN2A	21957750	21965038		Fizzotti M et al. 1995	7742527				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			Blood. 1995 May;85(10):2685-90	Detection of homozygous deletions of the cyclin-dependent kinase 4 inhibitor (p16) gene in acute lymphoblastic leukemia and association with adverse prognostic features.		600160	6914	1	1995	We conclude that  homozygous p16 gene deletions characterize a subset of ALL with features of aggressive disease.											
119084	Y	carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Artery Diseases	16	16q21	CETP	55553262	55575257		Kakko S et al. 2000	10619997				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			European journal of clinical investigation. 2000 Jan;30(1):18-25	Cholesteryl ester transfer protein gene polymorphisms are associated with carotid atherosclerosis in men.		118470	1216	1	2000	 We describe two polymorphisms of the CETP gene associated with intima media thickness in men. A significant interaction was found between alcohol consumption and the I405V genotype on IMT.											
119225		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	7	7q31.2	CFTR	116893073	117095954		Malats, N.   2001	12120227				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Pancreatology. 2001 ;1(5):472-6	Gene-environment interactions in pancreatic cancer.		602421	25877	2	2001	Review article		alcohol smoking (tobacco)									
123094	Y	obesity	METABOLIC	MET	Obesity	10	10q24.1	FAS	90740267	90765522		Kovacs, P.  et al. 2004	15220220				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Pima Pima Indian		CDC GDPinfo	355	Hs.244139			Diabetes. 2004 Jul;53(7):1915-9	A novel missense substitution (Val1483Ile) in the fatty acid synthase gene (FAS) is associated with percentage of body fat and substrate oxidation rates in nondiabetic Pima Indians.		134637	16634	2	2004	Our findings indicate that the Val1483Ile substitution in FAS is protective against obesity in Pima Indians, an effect possibly explained by the role of this gene in the regulation of substrate oxidation.	Cohort 216 full-blooded, nondiabetic Pima Indians 										
123089		HIV	INFECTION	INF	HIV Infections	10	10q24.1	FAS	90740267	90765522		Nasi, M.  et al. 2005	16158329				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Immunogenetics. 2005 Oct;57(9):628-35	Genetic polymorphisms of Fas (CD95) and Fas ligand (CD178) influence the rise in CD4+ T cell count after antiretroviral therapy in drug-na????ve HIV-positive patients.		134637	10570	2	2005												
118074	Y	reduced muscle mRNA levels and insulin resistance	OTHER	OTH	Diabetes Mellitus, Type 2|Insulin Resistance	2	2q37.3	CAPN10	241174817	241205795		Baier LJ et al. 2000	11018080				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2		Arizona	KGB	11132	Hs.112218			The Journal of clinical investigation. 2000 Oct;106(7):R69-73	A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance.		605286	6702	1	2000												
121979	Y	migraine	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile	6	6p12.3	EFHC1	52393070	52465177		Suzuki, T.  et al. 2004	15258581				EF-hand domain (C-terminal) containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018100.1			CDC GDPinfo	114327	Hs.403171			Nature genetics. 2004 Aug;36(8):842-9	Mutations in EFHC1 cause juvenile myoclonic epilepsy.		608815	16465	2	2004	Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals	Cohort 382 control individuals 										
116869	Y	cholesterol, HDL; triglycerides; cholesterol, LDL	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Ward, K. J.  et al. 2003	14613578				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Lipids in health and disease [electronic resource]. 2003 Nov;2:9	Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy.		606368	15229	2	2003	 In conclusion variation in the ApoAV gene raises triglyceride concentrations in pregnancy, as well as normolipaemic states and there is preliminary evidence that it alters fetal growth parameters.	Cohort 483 pregnant women and their offspring from the Exeter Family Study of Childhood Health 										
116857	Y	beta-cell function; insulin	METABOLIC	MET	Insulin Resistance	11	11q23	APOA5	116165295	116167794		Chiu, K. C.  et al. 2005	15841042				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Pancreas. 2005 May;30(4):328-32	Impact of apolipoprotein A5 polymorphisms on insulin sensitivity and beta-cell function.		606368	8705	2	2005	 The V150M polymorphism had an independent influence on 1stIR and 2ndIR. Although the biologic consequence of this polymorphism remains to be determined, the V150M polymorphism in the APOA5 gene is a genetic marker for beta-cell function.	Cohort 67 glucose-tolerant white subjects 										
138754	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Herfarth, H.  et al. 2001	11377705				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Immunology letters. 2001 Jun;77(2):113-7	Polymorphism of CC chemokine receptors CCR2 and CCR5 in Crohn's disease.		601267	9160	2	2001	These results iYdicate that the differeYt CCR5 but Yot CCR2 alleles may iYflueYce disease behaviour aYd thereby coYtribute to the observed heterogeYeity of CD. However, the associatioYs observed are limited aYd await replicatioY iY other datasets. CCR2 aYd CCR5 polymorphisms are uYlikely to be importaYt determiYaYts of overall disease susceptibility.	Case:235 Crohn's disease patients;Control:346 healthy controls										
138827		Alzheimer's disease; Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Huerta, C.  et al. 2004	15488313				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Neuroscience letters. 2004 Nov;370(3-Feb):151-4	Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease.		601267	24113	2	2004	We conclude that  the four DNA polymorphisms, which have been associated with several immuno-modulated diseases, did not contribute to the risk of PD or LOAD.	Case:200/326 patients with Parkinson's disease (n=200) and late-onset Alzheimer's disease (n=326);Control:370 healthy controls										
118628	Y	HIV infection	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Balfe P et al. 1998	9764905				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			AIDS research and human retroviruses. 1998 Sep;14(14):1229-34	Association between a defective CCR-5 gene and progression to disease in HIV infection.		601373	1319	1	1998												
119397	N	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	6	6q14-q15	CNR1	88906303	88932281		Gadzicki, D.  et al. 2004	15108190				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDPinfo	1268	Hs.75110			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 May;127(1):97-103	Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene.		114610	15842	2	2004	We conclude that  genetic variations of the CNR1 gene are not a plausible explanation for the clinically observed relation between the cannabinoid system and TS.	Control:55:controls;Case:56 Tourette syndrome patients;Case:64 Tourette syndrome patients;Control:66:controls										
119611	Y	diabetes, type 2; insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21-q23	CRP	157948702	157951003		Wolford, J. K.  et al. 2003	12618085			promoter	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Pima Indian		CDC GDPinfo	1401	Hs.76452			Molecular genetics and metabolism. 2003 Feb;78(2):136-44	A C-reactive protein promoter polymorphism is associated with type 2 diabetes mellitus in Pima Indians.		123260	9502	2	2003	Linkage analyses that adjusted for the effect of these polymorphisms indicated that they do not in themselves account for the observed linkage with T2DM on chromosome 1q. However, these findings suggest that variation within the CRP locus may play a role in diabetes susceptibility in Pima Indians.	Cohort 1300 Pima Indians 										
119670		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Cathcart, H. M.  et al. 2005	15728313				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDPinfo	1471	Hs.304682			Neurology. 2005 Feb;64(4):755-7	Cystatin C as a risk factor for Alzheimer disease.		604312	20848	2	2005	A proportional odds model indicated that the CST 3	Case Alzheimer's disease patients;Control:controls										
119912	Y	soluble cytotoxic T lymphocyte-associated antigen-4	METABOLIC	MET		2	2q33	CTLA4	204440753	204446928		Purohit, S.  et al. 2005	16259622				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of autoimmune diseases [electronic resource]. 2005 Oct;2:8	Lack of correlation between the levels of soluble cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) and the CT-60 genotypes.		123890	15941	2	2005	 Consistent with the higher serum sCTLA-4 levels observed in other autoimmune diseases, our results suggest that sCTLA-4 may be a risk factor for T1D. However, our results do not support the conclusion that the CT-60 SNP controls the expression of sCTLA-4.											
139080		colorectal cancer	CANCER	CAN		22	22q13.1	CYP2D6	40852444	40856827		Raimundo, S.  et al. 2004	15289790	2988G>A,		intron	Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Clinical pharmacology and therapeutics. 2004 Aug;76(2):128-38	A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects.		124030	16208	2	2004	 CYP2D6 genotyping can be considerably simplified by using 2988G>A as a marker for *41 and by omitting genotyping for the functionally equivalent alleles *2 and *35.	Cohort 308 Caucasian subjects 										
115770		idiopathic orthostatic intolerance	OTHER	OTH	Hypotension, Orthostatic	10	10q24-q26	ADRB1	115793795	115796657			15719258				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1		Austria	CDC GDPinfo	153	Hs.642658			International archives of occupational and environmental health. 2005 Apr;78(3):171-7	Functional adrenergic receptor polymorphisms and idiopathic orthostatic intolerance.		109630	25818	2	2005	 Our current results suggest that the beta1Gly49 polymorphism is protective for IOI. This is likely one of several common genetic loci that may represent modifiers of IOI phenotypes.											
115873		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	5	5q31-q32	ADRB2	148186348	148188381		van Tilburg JH 2003	12502697				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			Y Wang	154	Hs.591251	Complications		Diabetes care. 2003 Jan;26(1):251-2	Relationship of beta2-adrenergic receptor polymorphism with obesity in type 2 diabetes.		109690	265	1	2003												
115801	N	Asthma severity	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Holloway JW 2000	10931116	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Clinical and experimental allergy. 2000 Aug;30(8):1097-103			109690	193	1	2000	 We conclude that the polymorphisms of amino acids 16 and 27 of the beta2AR gene are not associated with the development of asthma per se, but that the Gly16 polymorphism may play a role in the pathogenesis of asthma severity.											
137718	N	Atopic asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381	n	Hakonarson H 2001	11739132	T-1594C			adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Icelandic	Iceland	KCB	154	Hs.591251			American journal of respiratory and critical care medicine. 2001 Dec;164(11):2036-44			109690	6368	1	2001	We conclude that  this study has failed to produce evidence in support of the notion that variations within these 24 candidate atopy and asthma genes significantly influence the expression of the atopic asthmatic phenotype or contribute to the susceptibility of atopic asthma.											
120443		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Otorhinolaryngologic Neoplasms|Neoplasms, Multiple Primary|Neoplasms, Second Primary|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Matthias, C.  et al. 2003	12548461				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Laryngo- rhino- otologie. 2003 Jan;82(1):25-30	[First results on the influence of polymorphisms at glutathione s-transferase, cytochrome p450, and tumor necrosis factor gene Loci on the development of multiple head and neck cancer]		108330	9963	2	2003	 Patients suffering from multiple SCC development showed a cumulation of high risk genotypes at GST and TNF gene loci. Specific genetic variations could not be determined.	Case patients with single and multiple squamous cell carcinoma of the head and neck;Control:controls										
120565		schizophrenia	PSYCH	PSY		15	15q24	CYP1A2	72828236	72835994		Mendoza-Cantu, A.  et al. 2004	14695651				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Mexican		CDC GDPinfo	1544	Hs.1361			Cell biochemistry and function. 2004 Jan-Feb;22(1):29-34	Genotype and allele frequencies of polymorphic cytochromes P450 CYP1A2 and CYP2E1 in Mexicans		124060	9806	2	2004	These frequencies are higher than those previously reported for other human populations.	Cohort 159 Mexicans 										
116018		body mass	METABOLIC	MET		8	8p12-p11.2	ADRB3	37939672	37943341		Phares, D. A.  et al. 2004	15166301				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDPinfo	155	Hs.2549			Obesity research. 2004 May;12(5):807-15	Association Between Body Fat Response to Exercise Training and Multilocus ADR Genotypes		109691	23972	2	2004	The body fat response to exercise training in older adults is associated with the combined effects of the Glu(12)/Glu(9) alpha2b-, Trp64Arg beta3-, and Gln27Glu beta2-ADR gene variants and their gene-gene interactions.	Cohort 70 healthy, sedentary men (n = 29) and postmenopausal women (n = 41) 50 to 75 years of age, with a BMI Washington, DC 										
120933		ulcer, gastric; repaglinide pharmacology; coagulation disorder	OTHER	OTH		10	10q23.33	CYP2C8	96786518	96819244		Halling, J.  et al. 2005	16025294				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Faroese		CDC GDPinfo	1558	Hs.282871			European journal of clinical pharmacology. 2005 Aug;61(7):491-7	Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.		601129	20994	2	2005	 The frequency of CYP2D6 poor metabolizers is twofold higher among the Faroese population than other Caucasians, while the frequencies of Faroese subjects with decreased CYP2C19, CYP2C8 and CYP2C9 enzyme activity are the same as seen in other Caucasian populations. A possible consequence might be a higher incidence of side effects among Faroese patients taking pharmaceuticals that are CYP2D6 substrates.											
120999	Y	flubiprofen metabolism	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Lee, C. R.  et al. 2003	12698304	CYP2C9*1/*1, *1/*2, and *1/*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			European journal of clinical pharmacology. 2003 Apr;58(12):791-4	Differences in flurbiprofen pharmacokinetics between CYP2C9*1/*1, *1/*2, and *1/*3 genotypes.		601130	16148	2	2003	 CYP2C9 genotype is a significant predictor of flurbiprofen disposition in humans by altering CYP2C9-mediated metabolism and reducing systemic clearance. The effects are most pronounced in individuals carrying the *3 allele.	Cohort 15 individuals with the CYP2C9*1/*1 ( n=5), *1/*2 ( n=5), and *1/*3 ( n=5) genotypes received a single 50-mg oral dose of flurbiprofen 	flubiprofen									
139179		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	7	7q21.1	CYP3A4	99192539	99219744		Demichele, A.  et al. 2005	16110016				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			Journal of clinical oncology. 2005 Aug;23(24):5552-9	Drug-metabolizing enzyme polymorphisms predict clinical outcome in a node-positive breast cancer cohort.		124010	10029	2	2005	 Combined genotypes at CYP3A4, CYP3A5, GSTM1, and GSTT1 influence the probability of treatment failure after high-dose adjuvant chemotherapy for node-positive breast cancer.		anthracycline chemotherapy									
120389		prostatic hyperplasia	CANCER	CAN	Prostatic Hyperplasia	15	15q21.1	CYP19A1	49288961	49418086		Azzouzi, A. R.  et al. 2002	12370109				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			European journal of endocrinology. 2002 Oct;147(4):479-84	Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate.		107910	24209	2	2002	 These results suggested that common variants of the CYP17 gene are associated with prostate enlargement and therefore may increase the risk of development of BPH in this population, while infrequent variants of the aromatase gene (CYP19) could be of a protective nature.	Cohort 195 French Caucasians 										
139324	Y	interpersonal sensitivity; paranoid ideation; psychoticism	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major|Paranoid Disorders	9	9q34	DBH	135491305	135514287		Wood JG et al. 2002	11904130				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			KGB	1621	Hs.591890			Biological psychiatry. 2002 Mar;51(5):365-9	A polymorphism in the dopamine beta-hydroxylase gene is associated with paranoid ideation in patients with major depression.		223360	6991	1	2002	 Depressed patients with the GG genotype of DbetaH have lower scores for interpersonal sensitivity and paranoid ideation. The GG genotype may be protective against the development of psychosis in the presence of a major depressive episode.	Cohort 164 patients with major depression										
115308		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Jastrzebskal, M.  et al. 2004	15673060				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Nutrition, metabolism, and cardiovascular diseases. 2004 Oct;14(5):259-69	Effects of perindopril treatment on hemostatic function in patients with essential hypertension in relation to angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms.		106180	13694	2	2004	 Our results show that essential hypertension predisposes to the procoagulant state characterized by hyperfibrinogenemia and hypofibrinolysis. Perindopril reduced fibrinogen levels in ACE II homozygotes due to its more potent inhibitory action on the renin-angiotensin system in such patients. It improved fibrinolysis by increasing t-PA levels regardless of ACE and PAI-1 genotype.	Control:34 age and gender -matched controls;Case:43 males with essential hypertension (mean age 31.7 +/- 6.8 years)	perindopril									
114912	Y	metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	17	17q23	ACE	58908165	58952935	0.001	Lee Y-J	12032106	insertion deletion		other	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Chinese	China|Taiwan	Yau-Jiunn Lee	1636	Hs.298469			Diabetes care. 2002 Jun;25(6):1002-8	ACE gene insertion/deletion polymorphism associated with 1998 World Health		106180	1753	1	2002	 The ACE I/D polymorphism was found to be associated with metabolic syndrome in Chinese patients with type 2 diabetes. This finding may provide genetic evidence to explain the clustering of metabolic syndrome and suggests that the renin-angiotensin system is involved in the pathophysiology of metabolic derangement in patients with type 2 diabetes.	Case:711; Control:750										
131868	Y	Parkinson's Disease	NEUROLOGICAL	NEUR	Huntington Disease|Parkinson Disease|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Bandmann O 1997	9343502				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			TJB	1728	Hs.406515			Lancet. 1997 Oct;350(9085):1136-9			125860	2058	1	1997		Case:100; Control:100										
142301		migraine with and without aura	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	5	5q35.1	DRD1	174800280	174803769		Shepherd AG et al. 2002	12047334					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			KGB	1812	Hs.2624			Headache. 2002 May;42(5):346-51	Dopamine receptor genes and migraine with and without aura: an association study.		126449	7655	1	2002	 These findings offer no evidence for allelic association between the tested dopamine receptor gene polymorphisms and the more prevalent forms of migraine and, therefore, do not support a role for these genes in the pathogenesis of the disorder.											
121462	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q23	DRD2	112785526	112851091		Grevle L et al. 2000	11104188				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Movement disorders. 2000 Nov;15(6):1070-4	Allelic association between the DRD2 TaqI A polymorphism and Parkinson's disease.		126450	2162	1	2000	The current study showed that there is a statistically significant association between the DRD2 variant allele A1 and PD. This association is most pronounced in patients with definite PD and becomes nonsignificant when the clinical picture is classified as atypical PD.	Case:72 patients with Parkinson's disease;Control:81:controls										
121697	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703	n	Tanaka T et al. 1995	8825901				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 1995 Dec;60(6):580-2	Lack of association between dopamine D4 receptor gene and schizophrenia.		126452	2262	1	1995												
142312		ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Roman T et al. 2001	11449401					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			American journal of medical genetics. 2001 Jul;105(5):471-8	Attention-deficit hyperactivity disorder: a study of association with both the dopamine transporter gene and the dopamine D4 receptor gene.		126452	7670	1	2001												
121861	Y	Focal dystonia	OTHER	OTH	Dystonic Disorders|Torticollis|Blepharospasm|Genetic Predisposition to Disease	4	4p16.1	DRD5	9392700	9394731		Misbahuddin A 2003	14509667				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			KGB	1816	Hs.380681			Advances in neurology. 2004 ;94:143-6	Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene.		126453	2310	1	2003												
116093	Y	coronary events	CARDIOVASCULAR	CARD	Coronary Disease	1	1q42-q43	AGT	228904891	228916564		Badenhop RF et al. 1996	8925576				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			KGB	183	Hs.19383			Circulation. 1996 Jun;93(12):2092-6	Association between an angiotensinogen microsatellite marker in children and coronary events in their grandparents.		106150	379	1	1996	We conclude that  the angiotensinogen polymorphism as well as the ACE polymorphism may explain a part of the risk related to a family history of CAD.											
116240	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Fan H et al. 1998	9531651				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Zhonghua yi xue yi chuan xue za zhi. 1998 Apr;15(2):101-3	Association between angiotensin II type I receptor gene and human essential hypertension		106165	432	1	1998	 The results indicate that the increase in allelic frequency of 1166C is a risk factor and hence suggest that the change in the angiotensin II type I receptor gene is associated with essential hypertension.											
137115		brain lesions or calcifications	NEUROLOGICAL	NEUR	Dystonia|Genetic Predisposition to Disease	9	9q34	TOR1A	131615041	131626262		Carbon, M.  et al. 2004	15293281				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2			CDC GDPinfo	1861	Hs.534312			Annals of neurology. 2004 Aug;56(2):283-6	Microstructural white matter changes in carriers of the DYT1 gene mutation		128100	19956	2	2004	Abnormal anatomical connectivity of the supplementary motor area may contribute to the susceptibility of DYT1 carriers to develop clinical manifestations of dystonia.	Control control subjects;Case carriers of the DYT1 mutation										
114559		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Mace, S.  et al. 2005	15649702				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2		France	CDC GDPinfo	19	Hs.429294			Neurobiology of disease. 2005 Feb;18(1):119-25	ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease		600046	14867	2	2005	Further research is needed to understand the functional role of this polymorphism. However, together with the reported associations of AD with APOE, CYP46A1 and ABCA1, the present result adds a very significant support for the role of cholesterol and phospholipid homeostasis in AD and a rationale for testing novel cholesterol homeostasis-related therapeutic strategies in AD.	Case:230 Alzheimer's disease cases;Control:286:controls										
114534		cholesterol	METABOLIC	MET	Myocardial Infarction|Hypertension	9	9q31.1	ABCA1	106583104	106730257		Shioji K 2004	14986172			5' promoter	ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese	Japan	KGB	19	Hs.429294			Journal of human genetics. 2004 ;49(3):141-7	A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population.		600046	87	1	2004	These results iYdicate that ABCA1 G(-273)C has a sigYificaYt effect oY the HDL-C level iY the geYeral JapaYese populatioY, but Yot oY the iYcideYce of MI.	Cohort 1,880 subjects recruited from the Suita Study, representing the general population in Japan Japan Cohort 598 subjects with myocardial infarction Cohort 743 subjects										
121986		melanoma	CANCER	CAN	Melanoma|Neoplasm Invasiveness|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Amend, K. L.  et al. 2004	15087376				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDPinfo	1950	Hs.419815			Cancer research. 2004 Apr;64(8):2668-72	EGF gene polymorphism and the risk of incident primary melanoma.		131530	10246	2	2004	Additional independent studies will be required to elucidate relationships between genetic variation in the EGF gene and risk of melanoma.	Case:330 incident first primary melanoma cases:Jan -Dec, 2000;Control:84/148 spouse/friend controls (n=84) and healthy volunteer controls from a case-control study of psoriasis (n:= 148)										
122256		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Ameyaw, M. M.  et al. 2002	12166652				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Caucasian		CDC GDPinfo	2064	Hs.446352			Journal of human genetics. 2002 ;47(4):172-5	Ethnic variation in the HER-2 codon 655 genetic polymorphism previously associated with breast cancer.		164870	10335	2	2002	The findings in this study correspond with the lower incidence and lower risk of breast cancer in African women compared with Caucasian and African-American women.	Cohort Ghanaian, Kenyan, Sudanese, Caucasian, African-American, Saudi, and Filipino subjects 										
122434	Y	body fat distribution	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Okura T 2003	12917706				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			KGB	2099	Hs.208124			International journal of obesity and related metabolic disorders. 2003 Sep;27(9):1020-7	Association of polymorphisms in the estrogen receptor alpha gene with body fat distribution.		133430	2425	1	2003	 No association was found between the ERalpha gene polymorphisms and body fat distribution in men. For women, the A --> G polymorphism, in particular the GG genotype, may contribute to the development of upper-body obesity in middle-aged individuals, but may serve to decrease the whole-body and abdominal fat tissue of older individuals.											
123012		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q28-q31	FABP2	120457852	120462766		Boullu-Sanchis S 1999	10443326				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2		Guadeloupe	Y Wang	2169	Hs.282265			Diabetes & metabolism. 1999 Jun;25(2):150-6	Type 2 diabetes mellitus: association study of five candidate genes in an Indian population of Guadeloupe, genetic contribution of FABP2 polymorphism.		134640	2559	1	1999												
123138		aortic stenosis	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	15	15q21.1	FBN1	46487796	46725210		Powell, J. T.  et al. 2005	16103519				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDPinfo	2200	Hs.591133			Journal of applied physiology (Bethesda, Md :  1985). 2005 Sep;99(3):1036-40	Influence of fibrillin-1 genotype on the aortic stiffness in men.		134797	16642	2	2005												
123422		leukemia	OTHER	OTH	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	13	13q12	FLT3	27475410	27572729		Au WY 2004	15036894				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			KGB	2322	Hs.507590			Cancer genetics and cytogenetics. 2004 Mar;149(2):169-72	Low frequency of FLT3 gene internal tandem duplication and activating loop mutation in therapy-related acute myelocyticleukemia and myelodysplastic syndrome.		136351	2701	1	2004												
141999	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22-q23	NCSTN	158579686	158595366		Orlacchio, A.  et al. 2004	15157994			promoter	Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2			CDC GDPinfo	23385	Hs.517249			Neuroscience letters. 2004 Jun;363(1):49-53	Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene		605254	12670	2	2004	Our investigation suggests that the two promoter SNPs are unrelated to the development of AD, however, further investigation at the promoter region of NCSTN may be necessary to address its potential implication of gene expression in AD.	Control:controls;Case familial Alzheimer's disease cases										
123577	N	diabetes, type 2	METABOLIC	MET	Friedreich Ataxia|Diabetes Mellitus, Type 2	9	9q13-q21.1	FXN	70840163	70878772	n	Dupont S et al. 1998	9753307				Frataxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000144.3	French	France	KGB	2395	Hs.29978			Diabetes. 1998 Oct;47(10):1654-6	No association between the Friedreich's ataxia gene and NIDDM in the French population.		606829	2713	1	1998												
123705		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4p12	GABRB1	46728335	47123202		Dick, D. M.  et al. 2003	12766633				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			CDC GDPinfo	2560	Hs.27283			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		137190	27914	2	2003	Review article											
123877		diabetes, type 2	METABOLIC	MET		7	7p15.3-p15.1	GCK	44150394	44195563		Zheng, T.  et al. 2005	16331569				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Chinese		CDC GDPinfo	2645	Hs.1270			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):671-4	[Mutation screening of GCK gene in Chinese early-onset diabetes population.]		138079	16889	2	2005	 The prevalence of structural mutations in glucokinase gene responsible for early-onset diabetes appears to be rare among Chinese patients.											
123940	N	Asthma	IMMUNE	IMM	Asthma	11	11q13	GIF	59353321	59369550	n	Adra 1999	10450859	DraIII RFL			Gastric intrinsic factor (vitamin B synthesis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005142.2			KCB	2694	Hs.110014			Clinical genetics. 1999 Jun;55(6):431-7			609342	2842	1	1999												
139591	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.2-q13.3	GNAS	56848189	56919645		Chen, Y.  et al. 2003	12862199				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDPinfo	2778	Hs.125898			Hypertension research. 2003 Jun;26(6):439-44	Association of the GNAS1 gene variant with hypertension is dependent on alcohol consumption.		139320	16966	2	2003	These findings may be helpful in conducting further molecular and biological studies on the relationship among the effects of alcohol, the beta-AR-Gs protein system, and hypertension.											
124221	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence|Disease Susceptibility	21	21q22.11	GRIK1	29831124	30234153		Sander T et al. 1997	9259378				Glutamate receptor, ionotropic, kainate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000830.3		Austria|Germany	KGB	2897	Hs.473554			American journal of medical genetics. 1997 Jul;74(4):416-21	Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism.		138245	2927	1	1997												
124219	Y	Huntington disease	NEUROLOGICAL	NEUR	Huntington Disease	21	21q22.11	GRIK1	29831124	30234153		Rubinsztein DC et al. 1997	9108071				Glutamate receptor, ionotropic, kainate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000830.3			KGB	2897	Hs.473554			Proceedings of the National Academy of Sciences of the United States of America. 1997 Apr;94(8):3872-6	Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.		138245	2925	1	1997												
131954	Y	obesity	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270		Rosmond R et al. 2000	10832763				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		Sweden	KGB	2908	Hs.122926			Obesity research. 2000 May;8(3):211-8	A glucocorticoid receptor gene marker is associated with abdominal obesity leptin and dysregulation of the hypothalamic-pituitary-adrenal axis.		138040	2941	1	2000												
124533		emphysema	CARDIOVASCULAR	CARD	Pulmonary Emphysema|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Budhi, A.  et al. 2003	12579334				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	CDC GDPinfo	2944	Hs.301961			International journal of molecular medicine. 2003 Mar;11(3):321-9	Genetic susceptibility for emphysematous changes of the lung in Japanese		138350	26046	2	2003	These findings suggest that combination of several polymorphisms in the enzymes that activate or detoxify the tobacco smoke, such as EPHX1 and HMOX1, might be associated with its affects on the development of emphysematous changes of the lung.	Cohort 235 heavy smokers 										
124510		DNA adducts	OTHER	OTH	Occupational Diseases|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Tuominen, R.  et al. 2002	11967624				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Archives of toxicology. 2002 Apr;76(3):178-86	Susceptibility factors and DNA adducts in peripheral blood mononuclear cells of aluminium smelter workers exposed to polycyclic aromatic hydrocarbons.		138350	24504	2	2002	In conclusion, levels of adduct B, identified by 32P-postlabelling/HPLC methodology as an indicator of PAH exposure in aluminium production, were modified by the use of respiratory protection, length of employment and genetic polymorphisms.	Control:55 blue-collar workers without occupational PAH:exposure;Case:98 aluminum smelter workers exposed to polycyclic aromatic hydrocarbons										
124502		1-hydroxypyrene, urinary; 2-naphtol	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Kim, Y. D.  et al. 2003	14646291				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of occupational health. 2003 May;45(3):160-7	Effects of genetic polymorphisms in metabolic enzymes on the relationships between 8-hydroxydeoxyguanosine levels in human leukocytes and urinary 1-hydroxypyrene and 2-naphthol concentrations.		138350	24496	2	2003	In conclusion, there is a significant correlation between the 8-OHdG level in leukocytes and the urinary 1-OHP concentration in the population not occupationally exposed to PAHs. This relationship is affected by genetic polymorphisms in PAH metabolic enzymes.	Cohort 105 healthy Korean males without occupational exposure to polycyclic aromatic hydrocarbons 	smoking (tobacco)									
124607	Y	Oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Park JY et al. 1999	10780269				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			KGB	2950	Hs.523836			Pharmacogenetics. 1999 Aug;9(4):497-504	Association between glutathione S-transferase pi genetic polymorphisms and oral cancer risk.		134660	3015	1	1999												
124603	Y	Total IgE. SPT. FEV1	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	11	11q13	GSTP1	67107861	67110699	P<0.05	Fryer AA 2000	10806136	Ile105Val			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		KGB	2950	Hs.523836			American journal of respiratory and critical care medicine. 2000 May;161(5):1437-42			134660	3011	1	2000												
125168		uveitis	IMMUNE	IMM	Eye Infections, Viral|HTLV-I Infections|Uveitis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Kaminagayoshi, T.  et al. 2005	16019679				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Japanese	Japan	CDC GDPinfo	3105	Hs.181244			Ocular immunology and inflammation. 2005 Apr-Jun;13(3-Feb):199-204	Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis.		142800	11245	2	2005	 The results suggest that HLA class I and class II genes do not contribute to susceptibility to HAU.											
139729		systemic lupus erythematosus	IMMUNE	IMM	Graves Disease|Lupus Erythematosus, Systemic	6	6p21.3	HLA-DRB1	32593131	32665559		Garcia-Ameijeiras A 1993	7903231				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			Clin Invest Med. 1993 Oct;16(5):326-32	Studies of restriction fragment length polymorphism (RFLP) of DR and DQ genes in HLA-DR3 positive patients with Graves' disease or systemic lupus erythematosus.		142857	7104	1	1993												
139743		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Thomson G 2004	2567257	DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			Y Wang	3123	Hs.534322			Genetic epidemiology. 1989 ;6(1):155-60	HLA and insulin gene associations with IDDM		142857	7118	1	2004												
142481		Pigeon breeder's lung	OTHER	OTH	Alveolitis, Extrinsic Allergic|Bird Fancier's Lung	6	6p21.3	HLA-DRB1	32593131	32665559		Poncet D et al. 1983	6408759	DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Tissue antigens. 1983 May;21(5):374-9	Pigeon breeder's lung: association with HLA-DR 3.		142857	7846	1	1983												
142533	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Gonzalez S et al. 2000	11069619	Cw*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4		Spain	KGB	3107	Hs.591791			The Journal of investigative dermatology. 2000 Nov;115(5):824-8	The OTF3 gene polymorphism confers susceptibility to psoriasis independent of the association of HLA-Cw*0602.		142840	7898	1	2000												
139621		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Chang, Y. T.  et al. 2005	16029332				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Chinese		CDC GDPinfo	3107	Hs.591791			The British journal of dermatology. 2005 Jul;153(1):90-6	A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis.		142840	13374	2	2005	 Our results indicate that the PSORS1C1 gene might not play an important role in the causation of chronic plaque psoriasis in Chinese people.											
139664		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-C	31344507	31432914		Carrington, M.  et al. 2003	12525683				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDPinfo	3107	Hs.591791			Annual review of medicine. 2003 ;54:535-51	The influence of HLA genotype on AIDS		142840	24616	2	2003	Review article											
142513		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Asumalahti K et al. 2000	10888604	Cw*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			KGB	3107	Hs.591791			Human molecular genetics. 2000 Jun;9(10):1533-42	A candidate gene for psoriasis near HLA-C HCR (Pg8) is highly polymorphic with a disease-associated susceptibility allele.		142840	7878	1	2000												
125687		bone marrow transplantation	IMMUNE	IMM	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Flomenberg, N.  et al. 2004	15191952				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Blood. 2004 Oct;104(7):1923-30	Impact of HLA class I and class II high-resolution matching on outcomes of unrelated donor bone marrow transplantation: HLA-C mismatching is associatedwith a strong adverse effect on transplantation outcome.		146880	26933	2	2004	We therefore conclude that matching for HLA-C should be incorporated into algorithms for unrelated donor selection. High-resolution mismatches at HLA-A, -B, -C, and -DRB1 adversely affect outcome, but less so than low-resolution mismatches. When clinical circumstances allow, high-resolution class I typing may help optimize donor selection and improve outcome.	Cohort 1,874 donor-recipient pairs 										
125679		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ruiz del Prado, M.Y.  et al. 2001	11181188				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			An Esp Pediatr. 2001 Jan;54(1):12-Jul	TWO LOCI HLA HAPLOTYPES IN CELIAC CHILDREN AND HEALTHY SUBJECTS. ESTIMATE OF LINKAGE DISEQUILIBRIUM PARAMETERS AND HAPLOTYPE FREQUENCIESOBJECTIVE		146880	26124	2	2001	 Our findings show that the frequency of A1/B8,A19/B12, B8/DR3,B12/DR7 and DR3/DQ2 haplotypes is higher in children with celiac disease than in the control population and suggest that these two loci haplotypes confer susceptibility to celiac disease.	Control a control population within the same geographical:area;Case:38 children with celiac disease										
125665		myasthenia gravis	IMMUNE	IMM	Thymoma|Thymus Neoplasms|Myasthenia Gravis|Autoimmune Diseases|Genetic Predisposition to Disease|Hyperplasia	6	6p21.3	HLA-DQA1	32713160	32722817		Fernandez-Mestre, M. T.  et al. 2004	14700596				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Venezuela	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Jan;65(1):54-9	HLA Class II and class I polymorphism in venezuelan patients with myasthenia gravis		146880	24645	2	2004	Thus, our results reflect the heterogeneity of our population and of the patients tested and suggest a limited influence of several HLA genes in this heterogenous disease or that these might be only markers of nearby non-HLA genes responsible for the susceptibility or resistance effect.	Case ethnically mixed Venezuelan patients with myasthenia gravis;Control:controls										
125612	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	HLA-DQA1	32713160	32722817		Ayed, K.  et al. 2004	15310011				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Tunisian	Tunisia	CDC GDPinfo	3117	Hs.387679			Annals of Saudi medicine. 2004 Jan-Feb;24(1):31-5	The involvement of HLA -DRB1*, DQA1*, DQB1* and complement C4A loci in diagnosing systemic lupus erythematosus among Tunisians.		146880	17302	2	2004	 The MHC class II alleles (DRB1, DQA1, DQB1) and C4 null associations noted in other ethnic groups are also found in Tunisians, suggesting shared susceptibility factors across ethnic lines in predisposition to SLE. In contrast to other ethnic groups, MHC class II alleles are not associated with the presence of specific autoantibodies in Tunisian SLE patients.	Control:100 matched controls;Case:62 Tunisian systemic lupus erythematosus patients										
125501		hypertension; stroke, lacunar; atherothrombotic brain infarction	CARDIOVASCULAR	CARD		6	6p21.3	HLA-DQA1	32713160	32722817		Tian, W.  et al. 2000	12212201				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Hunan yi ke da xue xue bao. 2000 Apr;25(2):141-3	[Allelic polymorphism of HLA-DQA1 locus in Han nationality in Hunan province]		146880	11124	2	2000	 Normal gene frequency values of HLA-DQA1 alleles in Han nationality in Hunan province are provided; PCR/SSCP can be used to eliminate the ambiguity which might exist in PCR/SSP typing for HLA-DQA1 locus.	Cohort 60 samples randomly selected from healthy individuals of Han nationality Hunan province, China 										
125491		schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQA1	32713160	32722817		Schwab, S. G.  et al. 2002	11920855				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			American journal of medical genetics. 2002 Apr;114(3):315-20	Investigation of linkage and association/linkage disequilibrium of HLA A-, DQA1-, DQB1-, and DRB1-alleles in 69 sib-pair- and 89 trio-families with schizophrenia.		146880	11112	2	2002	Our results are not in favor of a direct involvement of the HLA system in development of schizophrenia, but are compatible with the possible existence of a susceptibility gene in the MHC region at chromosome 6p 21.31.	Cohort 69 sib-pair families 										
125482	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Sang, Y.  et al. 2001	11780465				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese		CDC GDPinfo	3117	Hs.387679			Chinese medical journal. 2001 Apr;114(4):407-9	Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes.		146880	11103	2	2001	 DRB1 * 0301, DQA1 * 0301 and DQB1 * 0201 confer susceptibility while DQA1 * 0103 and DQB1 * 0601 confer protection to type 1 diabetes. DRB1 * 0301-DQA1 * 0501-DQB1 * 0201 haplotype offers a predisposition to type 1 diabetes in North Chinese. Although the distribution of DR4 and DR9 in patients and controls had no significant difference, DR3/DR4 and DR3/DR9 heterozygotes were significantly increased in patients, showing that the susceptive effects of DR3 and DR4 or DR4 and DR9 haplotypes could be added up.	Case type 1 diabetic children North China;Control not specified in abstract										
142220		leukemia; colorectal cancer	CANCER	CAN		6	6p21.3	HLA	29903802	30085613		Han, S.  et al. 2005	16331567				HLA-16 pseudogene				CDC GDPinfo	352964				Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):665-7	[High resolution DNA typing for HLA-A, B, Cw genes by polymerase chain reaction-sequence specific oligonucleotide probes method in the Shenyang Han population.]			17157	2	2005	 Using molecular method, the present authors have analyzed the characteristic of HLA I distribution in a group of indigenous Hans in Shenyang and thus have provided more accurate gene data for use in related researches.											
142443	Y	cyclosporine-dependent aplastic anemia	OTHER	OTH	Anemia, Aplastic|Autoimmune Diseases|Genetic Predisposition to Disease|Recurrence	6		HLA	29903802	30085613		Nakao S et al. 1994	7994040							Japan	KGB					Blood. 1994 Dec;84(12):4257-61	Identification of a specific HLA class II haplotype strongly associated with susceptibility to cyclosporine-dependent aplastic anemia.			7808	1	1994												
142476	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Owerbach D et al. 1990	1978827								KGB					Diabetes. 1990 Dec;39(12):1504-9	Multigenic basis for type I diabetes. Association of HRAS1 polymorphism with HLA-DR3 DQw2/DR4 DQw8.			7841	1	1990												
142514		psoriasis	IMMUNE	IMM	Psoriasis	6		HLA	29903802	30085613		Poncet D et al. 1982	6984837								KGB					Dermatologica. 1982 ;165(6):591-600	Immunogenetic analysis of association between HLA antigens and psoriasis vulgaris: population and family studies.			7879	1	1982												
142590	Y	sudden infant death	OTHER	OTH	Respiratory Tract Infections|Sudden Infant Death	6		HLA	29903802	30085613		Schneider PM et al. 1989	2612504							Germany, West	KGB					European journal of pediatrics. 1989 Dec;149(3):170-4	Possible association of sudden infant death with partial complement C4 deficiency revealed by post-mortem DNA typing of HLA class II and III genes.			7955	1	1989												
140248		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Sakurai K 2000	10983627				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Japanese	Japan	Y Wang	3172	Hs.116462	MODY		Horm Metab Res. 2000 Aug;32(8):316-20	Mutations in the hepatocyte nuclear factor-4alpha gene in Japanese with non-insulin-dependent diabetes: a nucleotide substitution in the polypyrimidine tract of intron 1b.		600281	7127	1	2000												
116680		nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Chronic Disease	14	14q11.2-q12	APEX1	19993129	19995766		Hadjadj, S.  et al. 2000	11096142				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDPinfo	328	Hs.73722			Nephrology, dialysis, transplantation. 2000 Dec;15(12):1971-6	Lack of relationship in long-term type 1 diabetic patients between diabetic nephropathy and polymorphisms in apolipoprotein varepsilon, lipoprotein lipase and cholesteryl ester transfer protein		107748	12211	2	2000	 These results support no or only marginal effects of a genetic basis for lipid disturbances encountered in diabetic nephropathy.	Case:104/126/107 104 (21%) incipient nephropathy, 126 (25%) established nephropathy and 107 (22%) advanced:nephropathy;Control:157 patients (32%) had no nephropathy										
126474	Y	hirsutism; pubarche	OTHER	OTH	Hirsutism|Puberty, Precocious	1	1p13.1	HSD3B2	119758792	119790645		Mermejo, L. M.  et al. 2004	15585552				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDPinfo	3284	Hs.825			The Journal of clinical endocrinology and metabolism. 2005 Mar;90(3):1287-93	Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.		201810	17555	2	2004	In conclusion, genotyping more patients in the present study, we confirm that patients with mutations in HSD3B2 gene have extremely elevated basal and ACTH-stimulated Delta5-17P levels and Delta5-17P to F ratios. Therefore, these data refine the hormonal criteria proposed to predict more accurately 3betaHSD2 deficiency.	Case:22 patients with clinical and/or biochemical features suggestive of 3betaHSD2 deficiency, including 9 female children with premature pubarche, 12 hirsute females and 1 boy with salt-wasting and ambiguous:genitalia										
126526		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Wu, Y. R.  et al. 2003	14605873				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDPinfo	3305	Hs.558337			Human genetics. 2004 Feb;114(3):236-41	Analysis of heat-shock protein 70 gene polymorphisms and the risk of Parkinson's disease.		140559	24882	2	2003	Therefore, -110 A/C may be a functional polymorphism in the 5' promoter region of HSP70-1 and may affect susceptibility to PD.	Control:183:controls;Case:274 Parkinson's disease patients										
126675	N	anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995	n	Ando T et al. 2001	11702058			promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Japanese	Japan	KGB	3356	Hs.72630			Psychiatric genetics. 2001 Sep;11(3):157-60	5-HT2A promoter polymorphism is not associated with anorexia nervosa in Japanese patients.		182135	3301	1	2001	at least for Japanese subjects, the A-allele of the -1438G/A polymorphism in the promoter region of the 5-HT2A receptor gene does not contribute to a predisposition to AN.	Control:127 normal female controls subjects;Case:75 female Japanese anorexia nervosa sufferers										
116808		cholesterol; triglycerides; cholesterol, LDL	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Ganan, A.  et al. 2004	15359534				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	Spanish		CDC GDPinfo	337	Hs.591940			Human biology; an international record of research. 2004 Apr;76(2):253-66	Frequencies of apolipoprotein A4 gene polymorphisms and association with serum lipid concentrations in two healthy Spanish populations		107690	8689	2	2004	In the combined association analysis subjects with the 360Gln/347Ser pseudohaplotype had the highest LDL-cholesterol concentrations, supporting the antagonistic effect between the 360His and the 347Ser alleles on this trait.	Cohort 758 randomly selected subjects (mean age 36.7+/-9.5 years) from 2 Spanish regions differing in latitude and fat intake Aragon and Cominidad Valencia, Spain 										
127101		heart transplant complications	OTHER	OTH		12	12q14	IFNG	66834816	66839788		Plaza, D. M.  et al. 2003	12909463				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			The Journal of heart and lung transplantation. 2003 Aug;22(8):851-6	Cytokine gene polymorphisms in heart transplantation: association of low IL-10production genotype with Quilty effect		147570	11626	2	2003	 These results suggest that genetically controlled decreased IL-10 production predisposes to the development of Quilty lesions. The decreased negative regulatory effect of IL-10 on T cells and macrophages may result in enhanced graft infiltration.	Cohort 71 heart transplant recipients Dec 1985 - Dec, 2000 										
127090	Y	hepatitis E	INFECTION	INF	Hepatitis E|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Arora, R.  et al. 2005	15932627			promoter, intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			International journal of immunogenetics. 2005 Jun;32(3):207-12	Promoter and intron-1 region polymorphisms in the IFNG gene in patients with hepatitis E.		147570	11565	2	2005	The data suggest that the genotype at intron 1 of IFNG might affect susceptibility to acute hepatitis in HEV infection, which warrants further elucidation in a larger sample and also functional studies.	Control:controls;Case patients with acute hepatitis										
127069	Y	sepsis	INFECTION	INF	Sepsis|Wounds and Injuries|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Stassen, N. A.  et al. 2002	12219025				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Surgery. 2002 Aug;132(2):289-92	Interferon-gamma gene polymorphisms and the development of sepsis in patients with trauma.		147570	11543	2	2002	 Homozygotes for the D allele (DD) of the interferon-gamma gene have an increased chance of developing sepsis after traumatic injury compared with other allelic combinations. This supports the hypothesis that genetic composition plays a role in patient outcome.	Cohort 61 patients with trauma and an injury severity score of 16 or greater 										
117335	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Cocco, E.  et al. 2005	15699400				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Italy	CDC GDPinfo	348	Hs.515465			Neurology. 2005 Feb;64(3):564-6	HLA-DR,DQ and APOE genotypes and gender influence in Sardinian primary progressive MS.		107741	17419	2	2005	The risk of the primary progressive course was increased (odds ratio = 6.81, p = 0.002) in women carrying the APOE4 but not the DRB1-DQB1 predisposing genotype, suggesting in this subgroup of patients a reciprocal influence between these genes and gender in modulating clinical variability of the disease.	Control:348 control subjects;Case:871 patients with multiple sclerosis (773 with relapsing and 98 with primary progressive disease)										
140281	N	retinopathy of prematurity	UNKNOWN	UNK	Retinopathy of Prematurity	15	15q26.3	IGF1R	97010283	97325282			16362313				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDPinfo	3480	Hs.592020			Graefes Arch Clin Exp Ophthalmol    2005        1-4	Lack of association between insulin-like growth factor I receptor G(+3174)A polymorphism and retinopathy of prematurity		147370	11594	2	2005	 Our results do not support the hypothesis that the carrier state of IGF-IR G(+3174)A polymorphism has an impact on the risk of ROP in infants. A possible cause for the lack of association is that the rapid nutritional and metabolic changes during postnatal life have a greater effect on IGF-I levels than this SNP does.											
142506	Y	coronary artery disease	CARDIOVASCULAR	CARD	Chlamydophila Infections|Coronary Disease|Myocardial Infarction	2	2q14	IL1B	113303807	113310827		Momiyama Y et al. 2001	11527622					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			Journal of the American College of Cardiology. 2001 Sep;38(3):712-7	Effects of interleukin-1 gene polymorphisms on the development of coronary artery disease associated with Chlamydia pneumoniae infection.		147720	7871	1	2001	 The IL-1 gene polymorphisms were found to play a role in the development of CAD, especially MI, in patients with CP infection.		Chlamydia pneumoniae									
128107	N	arthritis, rheumatoid	IMMUNE	IMM	Arthritis, Rheumatoid	2	2q12	IL1R1	102125677	102162766		John, S.  et al. 2001	11508575				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDPinfo	3554	Hs.557403			The Journal of rheumatology. 2001 Aug;28(8):1752-5	Linkage and association analysis of candidate genes in rheumatoid arthritis		147810	24980	2	2001	 Our results do not provide evidence of a role for these genes in RA susceptibility.	185 multiplex rheumatoid arthritis families 										
128229		celiac disease	IMMUNE	IMM	Celiac Disease	2	2q14.2	IL1RN	113573407	113608064		Rueda, B.  et al. 2005	16078996				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			BMC medical genetics [electronic resource]. 2005 Aug;6:29	Association study of functional genetic variants of innate immunity related genes in celiac disease.		147679	27500	2	2005	 Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.											
128222		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Pereira, N. F.  et al. 2004	15566952				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Cytokine. 2004 Dec;28(6):233-41	Cytokine gene polymorphisms in endemic pemphigus foliaceus: a possible role for IL6 variants.		147679	26281	2	2004	Associations with IL6 -174 variants suggest that the C/C genotype has a protective effect (OR=0.13) while carriers of the G allele are more susceptible (OR=7.66) to EPF.	Case:168 endemic pemphigus foliaceus patients;Control:189:controls										
128187		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064		Xu, J.  et al. 2005	16284379				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2563-8	The interaction of four genes in the inflammation pathway significantly predicts prostate cancer risk.		147679	22542	2	2005												
128135		three autoimmune disease	OTHER	OTH	Graves Disease|Lupus Erythematosus, Systemic|Thyroiditis, Autoimmune	2	2q14.2	IL1RN	113573407	113608064		Heward J et al. 1999	10411127				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Thyroid. 1999 Jun;9(6):627-8	The interleukin-1 receptor antagonist gene shows no allelic association with three autoimmune diseases.		147679	3559	1	1999												
128401		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Zhu, Q. R.  et al. 2005	16232344				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Chinese medical journal. 2005 Oct;118(19):1604-9	Relationship between cytokines gene polymorphism and susceptibility to hepatitis B virus intrauterine infection.		147780	25012	2	2005	 This study suggested the possibility that the TNF-alpha -238 A allele and IFN-gamma +874 A allele were associated with HBV intrauterine infection. There was no evident relationship between IL-4 -590 C/T allele SNP and susceptibility to HBV intrauterine infection, but the IL-10 -1082 G allele was associated with preventive efficacy to HBV intrauterine infection.											
128356	Y	Atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Food Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Liu X 2004	15007352				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	German	Germany	KGB	3565	Hs.73917			The Journal of allergy and clinical immunology. 2004 Mar;113(3):489-95	Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study.		147780	3667	1	2004	 These findings not only suggested that variants in the IL4, IL13, and IL4RA genes play an important role in controlling specific IgE response but also strengthened our understanding of gene-gene and gene-environment interaction on the development of specific sensitization in this study population.	Cohort German children drawn from the Multicenter Atopy Study	cat allergens dust food allergens outdoor allergens smoking (tobacco), maternal									
128523	Y	increasing risk and a poor prognosis of renal cell carcinoma	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Disease Progression	16	16p11.2-12.1	IL4R	27232751	27283600		Nakamura E et al. 2002	12171893				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese		KGB	3566	Hs.513457			Clinical cancer research. 2002 Aug;8(8):2620-5	Genetic polymorphisms of the interleukin-4 receptor alpha gene are associated with an increasing risk and a poor prognosis of sporadic renal cell carcinoma in a Japanese population.		147781	3747	1	2002	 The present findings show that the preferential Th2-type response to tumors was associated with a poorer prognosis and suggest that polymorphisms of the IL-4Ralpha gene may serve as useful genetic markers for assessing the risk of the development and progression of RCC.											
140334		Bone Mineralization	METABOLIC	MET		7	7p21	IL6	22733322	22738141		Murray R.E. 1997	9213013	VNTR	association with bone mineral density		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Bone. 1997 Jul;21(1):89-92			147620	7176	1	1997	We conclude that  bone mass is associated with two common polymorphisms of the IL-6 gene. Although the mechanisms that underlie this association will require further research, our data suggest that polymorphic variation at the IL-6 gene locus may contribute to the genetic regulation of bone mass.											
140356		Lacunar Infarction	OTHER	OTH	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Hypertension|Diabetes Mellitus|Hyperlipidemias|Diabetes Complications|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Revilla M 2002	11983287	A -174G/C			Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Neuroscience letters. 2002 May;324(1):29-32	A -174G/C polymorphism of the interleukin-6 gene in patients with lacunar infarction.		147620	7198	1	2002	These findings suggest that lacunar stroke might result from genetic susceptibility to inflammation-mediated damage in concert with atherosclerotic risk factors.	Case:82 patients with lacunar stroke;Control:82 age- and sex-matched cohort of asymptomatic:controls										
128659		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	5	5q31.1	IL9	135255833	135259415		Zee, R. Y.  et al. 2002	12082592				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			CDC GDPinfo	3578	Hs.960			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		146931	28636	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
127584		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	1	1q31-q32	IL10	205007570	205012462		Kornman, K. S.  et al. 2001	11887471				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		124092	27484	2	2001	Review Article											
127435		asthma; eczema; allergic disease	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Meenagh, A.  et al. 2002	12392859				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDPinfo	3586	Hs.193717			Human immunology. 2002 Nov;63(11):1055-61	Frequency of cytokine polymorphisms in populations from western Europe, Africa, Asia, the Middle East and South America.		124092	11801	2	2002	No conclusion stated in abstract	Cohort Five population samples, including Northern Ireland, South African Zulu, Omani, Singapore Chinese and Mexican Mestizos. 										
127613	N	Asthma and Allergic Rhinitis	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059	n	Noguchi E 2001	11704807	???? -4475- 4insG. Glu 186Asp and Ser226Asn			Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Japanese	Japan	KCB	3593	Hs.674			Genes and immunity. 2001 Nov;2(7):401-3			161561	3866	1	2001												
140578		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Lee, H. W.  et al. 2005	16088278				Interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1	Korean	Korea	CDC GDPinfo	3594	Hs.567294			Respiration; international review of thoracic diseases. 2005 Jul-Aug;72(4):365-8	Lack of an association between interleukin-12 receptor beta1 polymorphisms and tuberculosis in Koreans.		601604	11686	2	2005	 In view of the finding that these SNPs have been reported to be associated with TB in the Japanese and Moroccan populations, our results may reflect racial differences in genetic susceptibility to TB.											
127707	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Van Der Pouw Kraan, T. C.  et al. 2002	12424628	( -1055)		promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			Genes and immunity. 2002 Nov;3(7):436-9	Chronic obstructive pulmonary disease is associated with the -1055 IL-13 promoter polymorphism.		147683	11693	2	2002	These results could implicate a functional role for the IL-13 promoter polymorphism in the enhanced risk to develop COPD.	Case chronic obstructive polymonary disease patients;Control healthy controls										
127794		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	11	11q22.2-q22.3	IL18	111519185	111540050			16316892			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2		Germany	CDC GDPinfo	3606	Hs.83077			Scandinavian journal of gastroenterology. 2005 Dec;40(12):1438-43	-137 (G/C) IL-18 promoter polymorphism in patients with inflammatory bowel disease		600953	11733	2	2005	 The -137 (G/C) IL-18 promoter polymorphism is not a susceptibility factor for IBD in a German cohort.											
127788	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Folwaczny, M.  et al. 2005	15842270				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDPinfo	3606	Hs.83077			Journal of clinical periodontology. 2005 May;32(5):530-4	Polymorphisms of the interleukin-18 gene in periodontitis patients.		600953	11725	2	2005	 Herein the six different IL-18 gene polymorphisms were not associated with destructive periodontal disease.	Control:121 healthy controls;Case:123 patients with periodontitis										
128754		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension, Renal	11	11p15.5	INS	2106922	2139015		Frossard, P. M.  et al. 2003	14647005				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Neuro endocrinology letters. 2003 Oct;24(5):325-8	Associations between the human insulin gene 5' VNTR and clinical variables of the renin-angiotensin system.		176730	17806	2	2003	 Our results indicate that between 6 and 10 QTLs with comparable effects could be involved in blood pressure regulation via the rennin angiotensin system.	Cohort 44 middle-aged, U.S. Caucasians 										
128791	Y	gestational diabetes mellitus	METABOLIC	MET	Pregnancy in Diabetics|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Ober C et al. 1989	2574127				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			Genetic epidemiology. 1989 ;6(5):559-69	Increased risk for gestational diabetes mellitus associated with insulin receptor and insulin-like growth factor II restriction fragment length polymorphisms.		147670	4014	1	1989												
129215		thrombocythemia	HEMATOLOGICAL	HEM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Thrombosis|Thrombocythemia, Hemorrhagic|Myelofibrosis|Polycythemia Vera|Disease Progression	9	9p24	JAK2	4975244	5117995		Wolanskyj, A. P.  et al. 2005	16197451				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDPinfo	3717	Hs.591081			British journal of haematology. 2005 Oct;131(2):208-13	JAK2 mutation in essential thrombocythaemia:clinical associations and long-term prognostic relevance.		147796	17892	2	2005												
140644		cervical cancer	CANCER	CAN	Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	19	19q13.4	KIR2DL4	59989604	60070482		Arnheim, L.  et al. 2005	15730517				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255			CDC GDPinfo	3805	Hs.166085			Tissue antigens. 2005 Mar;65(3):252-9	A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia.		604945	26359	2	2005	It was concluded that certain KIR genes and genotypes may associate with cervical neoplasia.	Control:150 controls women from the same cohort that remained:healthy;Case:65 cervical cancer cases from a nested case-control study withing a cohort of 15,234 women										
142224	N	Graves' disease	IMMUNE	IMM	Graves Disease|Addison Disease|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Jennings, C. E.  et al. 2005	15730420	codon 55			SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			CDC GDPinfo	387082	Hs.269775			Clinical endocrinology. 2005 Mar;62(3):362-5	No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease.		608829	14124	2	2005	 We cannot confirm a generalized role for SUMO4 in autoimmune endocrinopathy. The SUMO4 codon 55 methionine to valine polymorphism may be exclusively associated with susceptibility to T1D, or the effect of the locus in GD and Addison's disease may be much less than that found in T1D patients.	Case:104 Caucasian autoimmune Addison's disease subjects;Control:467 healthy Caucasian controls										
129484		hypolactasia	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Buning, C.  et al. 2005	16024930				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2			CDC GDPinfo	3938	Hs.551506			Digestion. 2005 ;71(4):245-50	Introducing genetic testing for adult-type hypolactasia.		603202	17987	2	2005												
129512		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3	LDLR	11061131	11105490		Wu S1995	7712832				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Chinese		Y Wang	3949	Hs.213289			Chinese medical journal. 1995 Jan;108(1):4-Oct	Relationship of LDLR gene polymorphism and NIDDM in Chinese.		606945	4233	1	1995												
129668		triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	15	15q21-q23	LIPC	56511466	56648364		Foucher, C.  et al. 2004	15608561				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Pharmacogenetics. 2004 Dec;14(12):823-9	Response to micronized fenofibrate treatment is associated with the peroxisome-proliferator-activated receptors alpha G/C intron7 polymorphism in subjects with type 2 diabetes		151670	25191	2	2004	 These results indicate that elevated baseline TG levels and PPARA gene intron 7 G/G genotype were associated with TG reduction > 30% after fenofibrate treatment in patients with type 2 diabetes.	Cohort subjects with type 2 diabetes treated with micronized fenofibrate 	fenofibrate									
129767	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	8	8p22	LPL	19841057	19869049		Mailly F et al. 1996	8724108				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			KGB	4023	Hs.180878	infarction survivors		Atherosclerosis. 1996 Apr;122(1):21-8	Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study.		609708	4312	1	1996												
130130	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Manor, I.  et al. 2002	12140786				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2002 ;7(6):626-32	Family-based and association studies of monoamine oxidase A and attention deficit hyperactivity disorder (ADHD): preferential transmission of thelong promoter-region repeat and its association with impaired performance on a continuous performance test (T		309850	18118	2	2002	All three complementary approaches employed (family-based, case-control and quantitative trait design) suggest a role for the MAO A promoter-region polymorphism in conferring risk for ADHD in our patient population.	Case:110/19 male (n=110) and female (n=19) probands;Control:202 male controls										
140784		dementia	PSYCH	PSY	Dementia	17	17q21.1	MAPT	41327623	41461546		Wang J 2004	15009664				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			Journal of neurochemistry. 2004 Mar;88(5):1078-90	Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors.		157140	7308	1	2004												
130447	Y	brain tumor	CANCER	CAN	Glioblastoma|Brain Neoplasms	10	10q26	MGMT	131155455	131455358		Inoue, R.  et al. 2003	14669534				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDPinfo	4255	Hs.501522			Neurological research. 2003 Dec;25(8):875-9	A genotype of the polymorphic DNA repair gene MGMT is associated with de novo glioblastoma.		156569	18257	2	2003	This study suggests that the V1/W genotype of the MGMT gene may contribute to the de novo occurrence of glioblastoma.	Control normal controls;Case primary brain tumors										
130499	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	MICA	31475539	31491069		Ban, G.  et al. 2002	12170466				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		China	CDC GDPinfo	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):298-301	[A study of the relationship between MICA gene and systemic lupus erythematosus]		600169	18263	2	2002	 Exons 4 and 5 of MICA were not related to SLE in Yunnan Hans.	Control:152 controls of Yunnan Hans;Case:70 cases of systemic lupus erythematosus										
130495	Y	diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Novota, P.  et al. 2005	16164693				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Czech	Czech Republic	CDC GDPinfo	4276	Hs.549053			International journal of immunogenetics. 2005 Oct;32(5):273-5	Association of MHC class I chain related gene-A microsatellite polymorphism with the susceptibility to T1DM and LADA in Czech adult patients.		600169	12369	2	2005												
130572		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Sarroca, C.  et al. 2005	15952990				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Uruguay	CDC GDPinfo	4292	Hs.195364			Clinical genetics. 2005 Jul;68(1):80-7	Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.		120436	18290	2	2005												
130783	Y	coronary artery luminal dimensions	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypercholesterolemia	11	11q21-q22	MMP7	101896448	101906688		Jormsjo S et al. 2001	11701474			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			KGB	4316	Hs.2256			Arteriosclerosis, thrombosis, and vascular biology. 2001 Nov;21(11):1834-9	Allele-specific regulation of matrix metalloproteinase-7 promoter activity is associated with coronary artery luminal dimensions among hypercholesterolemic patients.		178990	4558	1	2001	In conclusion, the present study identified and characterized 2 common polymorphisms in the promoter region of the MMP-7 gene that are functional in vitro and seem to influence coronary arterial dimensions in hypercholesterolemic patients with manifest coronary artery disease.	Cohort 350 patients undergoing percutaneous transluminal coronary angioplasty										
130942		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Kiyohara, C.  et al. 2002	12234692				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		606989	28344	2	2002	Review article		smoking (tobacco)									
130912		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Ambrosone, C. B.  et al. 2005	15705913				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Cancer research. 2005 Feb;65(3):1105-11	Polymorphisms in genes related to oxidative stress (MPO, MnSOD, CAT) and survival after treatment for breast cancer.		606989	22920	2	2005	These data indicate that gene variants that impact oxidative stress modify prognosis after treatment for breast cancer.	Cohort 279 women treated with radiation and/or chemotherapy for incident breast cancer at the Arkansas Cancer Research Center 1985 - 1996 										
130880	Y	cerebral infarct	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Brain Infarction|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Hoy, A.  et al. 2003	12818404				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		France	CDC GDPinfo	4353	Hs.458272			Atherosclerosis. 2003 Apr;167(2):223-30	Myeloperoxidase polymorphisms in brain infarction. Association with infarct size and functional outcome.		606989	12509	2	2003	In conclusion, MPO polymorphisms were associated with the extent of brain damage and the functional outcome rather than with the risk of developing a BI.	Case:450 patients with brain infarction of the GENIC (Genetique de l'Infarctus Cerebral) Study;Control:450:controls										
140847		myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD	Myocardial Infarction|Hyperhomocysteinemia|Diabetes Mellitus, Type 2			MS				Helfenstein, T.  et al. 2005	15820491	C677T			multiple sclerosis				CDC GDPinfo	4397				Clinica chimica acta; international journal of clinical chemistry. 2005 May;355(2-Jan):165-72	Prevalence of myocardial infarction is related to hyperhomocysteinemia but not influenced by C677T methylenetetrahydrofolate reductase and A2756G methionine synthase polymorphisms in diabetic and non-diabetic subjects.		126200	12550	2	2005	 Higher homocysteinemia was predominantly observed in men, presenting low HDL-C, and at advancing age. Methylenetetrahydrofolate reductase and methionine synthase polymorphisms did not contribute to risk assessment in diabetic and non-diabetic subjects presenting normal folate levels.											
131055		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Mangold, E.  et al. 2005	15849733				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	German		CDC GDPinfo	4436	Hs.156519			International journal of cancer. Journal international du cancer. 2005 Sep;116(5):692-702	Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.		120435	25263	2	2005												
131080	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p22	MSR1	16009757	16094671		Wang, L.  et al. 2003	12958598				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2			CDC GDPinfo	4481	Hs.632045			Nature genetics. 2003 Oct;35(2):128-9	No association of germline alteration of MSR1 with prostate cancer risk.		153622	18368	2	2003	Our results do not support MSR1 as a risk factor for prostate cancer.											
140870	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Urano W et al. 2002	11927833				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Japan	KGB	4524	Hs.214142			Pharmacogenetics. 2002 Apr;12(3):183-90	Polymorphisms in the methylenetetrahydrofolate reductase gene were associated with both the efficacy and the toxicity of methotrexate used for the treatment of rheumatoid arthritis as evidenced by single locus and haplotype analyses.		607093	7327	1	2002												
141171		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Le Marchand, L.  et al. 2002	12020105				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		United States	CDC GDPinfo	4548	Hs.498187			Cancer causes & control. 2002 Apr;13(3):239-48	B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).		156570	25317	2	2002	 This study provides additional evidence for a decreased CRC risk for subjects with the MTHFR 677T allele, particularly at high levels of folate and vitamin B6 intake. Our data also suggest that the relationships between CRC and the MTHFR A1298C and CBS 844ins68 polymorphisms warrant further study.	Case:727 colorectal cancer cases of Japanese, Caucasian, or Native Hawaiian origin;Control:727 controls matched on sex, age, and ethnicity										
131145		plasma folate vitamin B12 homocyst(e)ine and colorectal cancer risk	CANCER	CAN	Colorectal Neoplasms	5	5p15.3-p15.2	MTRR	7922216	7954235		Ma J et al. 1999	10498402				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Canada|United States	KGB	4552	Hs.481551			Cancer epidemiology, biomarkers & prevention. 1999 Sep;8(9):825-9	A polymorphism of the methionine synthase gene: association with plasma folate vitamin B12 homocyst(e)ine and colorectal cancer risk.		602568	4610	1	1999												
141182	Y	lung cancer susceptibility and prognosis	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	1	1p34.2	MYCL1	40133684	40140274		Shih CM et al. 2002	11955646				v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1			KGB	4610	Hs.437922			Lung cancer (Amsterdam, Netherlands). 2002 May;36(2):125-32	Association of L-myc polymorphism with lung cancer susceptibility and prognosis in relation to age-selected controls and stratified cases.		164850	4637	1	2002	These data suggest that the S allele of the L-myc polymorphism may be associated with lung cancer progression.	Case:169 lung cancer patients:Taiwan;Control:169 non-cancer controls										
131503	Y	Norrie disease	OTHER	OTH	Blindness|Retinal Dysplasia|Retinal Detachment|Sex Chromosome Aberrations	X	Xp11.4	NDP	43692967	43717694		Kellner U et al. 1996	8832723				Norrie disease (pseudoglioma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000266.1			KGB	4693	Hs.522615	Ocular phenotypes		Ophthalmic genetics. 1996 Jun;17(2):67-74	Ocular phenotypes associated with two mutations (R121W C126X) in the Norrie disease gene.		310600	4655	1	1996	 Mutations in the Norrie disease gene can lead to retinal malformations of variable severity both in hemizygous males and manifesting carriers.											
131545		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	17	17p13.1	NEUROD2	35013546	35017701		Yamada, S.  et al. 2001	11473083				Neurogenic differentiation 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006160.3	Japanese	Japan	CDC GDPinfo	4761	Hs.322431			Diabetes care. 2001 Aug;24(8):1438-41	NeuroD/BETA2 Gene G-->A Polymorphism May Affect Onset Pattern of Type 1 Diabetes in Japanese		601725	12683	2	2001	 These results support our hypothesis that NeuroD/BETA2 may affect the ability of regeneration of beta-cells, leading to a difference in the onset pattern and clinical course of type 1 diabetes.	Case:105 Japanese type 1 diabetic patients;Control:122 nondiabetic Japanese subjects										
131553		pilocytic astrocytomas	CANCER	CAN	Astrocytoma|Brain Neoplasms	17	17q11.2	NF1	26446120	26728821		Kluwe L et al. 2001	11556548				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			KGB	4763	Hs.567266			Journal of neuropathology and experimental neurology. 2001 Sep;60(9):917-20	Loss of NF1 alleles distinguish sporadic from NF1-associated pilocytic astrocytomas.		162200	4672	1	2001												
141224	Y	smoking	OTHER	OTH	Coronary Disease|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Wang XL et al. 1996	8564837				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603	smoking		Nature medicine. 1996 Jan;2(1):41-5	A smoking-dependent risk of coronary artery disease associated with a polymorphism of the endothelial nitric oxide synthase gene.		163729	7437	1	1996												
141255	Y	stroke	CARDIOVASCULAR	CARD	Brain Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Elbaz A et al. 2000	10884465				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2000 Jul;31(7):1634-9	Association between the Glu298Asp polymorphism in the endothelial constitutive nitric oxide synthase gene and brain infarction. The GENIC Investigators.		163729	7468	1	2000	 Homozygosity for the G allele of the Glu298Asp polymorphism in NOS3 was associated with BI, and especially with lacunar stroke. Our findings suggest that genetic susceptibility and LDL cholesterol have a synergistic relation. Although these findings should be replicated in a larger sample of subjects and the functionality of the Glu298Asp polymorphism has not been established, these results may help us to understand the cause of the arteriolopathy underlying lacunae and have future implications in their treatment and prevention.											
141354	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Metastasis|Neoplasm Circulating Cells	7	7q36	NOS3	150319079	150342609		Medeiros, R.  et al. 2003	12445681				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Cancer letters. 2003 Jan;189(1):85-90	Endothelial nitric oxide synthase gene polymorphisms and the shedding of circulating tumour cells in the blood of prostate cancer patients.		163729	12783	2	2003	We hypothesize that genotypes with the a allele of the ecNOS4a/b polymorphism may facilitate the survival of CTCs in the blood of cancer patients.	Cohort 61 patients with prostate cancer 										
141398		systemic sclerosis	UNKNOWN	UNK		7	7q36	NOS3	150319079	150342609		Sticchi, E.  et al. 2004	15168725				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Biochemical genetics. 2004 Apr;42(4-Mar):121-7	High-speed detection of the G894T polymorphism in exon 7 of the eNOS gene by real-time fluorescence PCR with the Light-Cycler		163729	12832	2	2004	The results were consistent with those obtained from PCR-RFLP assay.	Cohort 270 healthy subjects 										
141431	Y	congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure	7	7q36	NOS3	150319079	150342609		Binkley, P. F.  et al. 2005	15846275			promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			American heart journal. 2005 Feb;149(2):342-8	A polymorphism of the endothelial nitric oxide synthase promoter is associated with an increase in autonomic imbalance in patients with congestive heart failure.		163729	12873	2	2005	 Patients with congestive heart failure who are homozygous for this polymorphism of the eNOS promoter were found to have a more advanced autonomic imbalance. This polymorphism may serve as a marker for patients at increased risk for sudden death and more rapid progression of disease.	Cohort patients with congestive heart failure 										
132174		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Pain, Intractable	6	6q24-q25	OPRM1	154402135	154609693		Klepstad, P.  et al. 2004	15504181	118 A > G			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDPinfo	4988	Hs.2353			Acta anaesthesiologica Scandinavica. 2004 Nov;48(10):1232-9	The 118 A > G polymorphism in the human micro-opioid receptor gene may increase morphine requirements in patients with pain caused by malignant disease		600018	13021	2	2004	 Patients homozygous for the 118 G allele of the mu-opioid receptor need higher morphine doses to achieve pain control. Thus, genetic variation at the gene encoding the mu-opioid receptor contributes to variability in patients' responses to morphine.	Case:207 cancer pain patients on oral morphine treatment	morphine									
132223	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q24	P2RX7	120055060	120108241		Li, C. M.  et al. 2002	12404161				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4	Gambian	Gambia	CDC GDPinfo	5027	Hs.507102			The Journal of infectious diseases. 2002 Nov;186(10):1458-62	Association of a polymorphism in the P2X7 gene with tuberculosis in a Gambian population.		602566	13036	2	2002	This association supports a role for ATP/P2X(7)-mediated host regulation of Mycobacterium tuberculosis infection.	Control:>160 ethnically matched control subjects;Case:>300 Gambian patients with tuberculosis:Gambia										
132530		obesity, localized	METABOLIC	MET	Breast Neoplasms|Obesity	11	11q22-q23	PGR	100414312	100506465		Wasserman, L.  et al. 2003	14557830				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			International journal of obesity and related metabolic disorders. 2004 Jan;28(1):49-56	Correlates of obesity in postmenopausal women with breast cancer: comparison of genetic, demographic,disease-related, life history and dietary factors		607311	23220	2	2003	 Early age at menarche and a PROGINS A1/A1+AIB1 LG genetic pattern had comparable levels of association with obesity in this cross-sectional sample of postmenopausal women with breast cancer. Since this was a cross-sectional rather than a case-control design, the association between PROGINS and AIB1 genotype and obesity found in this sample should be considered preliminary, and must be re-evaluated with a new and larger sample.	Cohort 301 postmenopausal women with breast cancer 	alcohol diet family history menses physical activity smoking (tobacco) tamoxifen									
114718	Y	cholesterol; cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	7	7q21.1	ABCB1	86970883	87180500		Rodrigues, A. C.  et al. 2005	16138223				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Brazilian journal of medical and biological research. 2005 Sep;38(9):1389-97	High baseline serum total and LDL cholesterol levels are associated with MDR1 haplotypes in Brazilian hypercholesterolemic individuals of European descent.		171050	14916	2	2005			atorvastatin									
141645	Y	Alzheimer's Disease	OTHER	OTH	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Finckh, U.  et al. 2003	12898287				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			Neurogenetics. 2003 Aug;4(4):213-7	Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2		191840	18944	2	2003	PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection.	Control:291:controls;Case:347 patients with late-onset Alzheimer's disease										
141647		bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Chen, H. Y.  et al. 2005	15927351				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDPinfo	5328	Hs.77274			European journal of obstetrics, gynecology, and reproductive biology. 2005 Sep;122(1):73-8	Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density andsusceptibility to osteoporosis.		191840	25424	2	2005	 The RsaI IL-10 promoter gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine.	Cohort postmenopausal women 										
142145		cholelithiasis	METABOLIC	MET	Cholelithiasis|Gallstones|beta-Thalassemia|Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Borgna-Pignatti, C.  et al. 2003	14555305				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Haematologica. 2003 Oct;88(10):1106-9	Thalassemia minor, the Gilbert mutation, and the risk of gallstones		191740	23866	2	2003	 Thalassemia minor represents a risk factor for cholelithiasis and the Gilbert mutation further increases this risk. This is an additional example of how two genotypes can interact and modify a phenotype.	Case:143 women obligate carriers of beta-thalassemia;Control:170 hemotologically normal women										
133031	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Marti A et al. 2002	12744304				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Journal of physiology and biochemistry. 2002 Dec;58(4):219-20	CHO intake alters obesity risk associated with Pro12Ala polymorphism of PPARgamma gene.		601487	5107	1	2002												
133023		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	3	3p25	PPARG	12304348	12450855		Kawasaki I 2002	12375694	Prol2Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Japanese		Y Wang	5468	Hs.162646	Complications		Osaka city medical journal. 2002 Jun;48(1):23-8	Impact of Prol2Ala variant in the peroxisome proliferator-activated receptor (PPAR) gamma2 on obesity and insulin resistance in Japanese Type 2 diabetic and healthy subjects.		601487	5099	1	2002												
132997	Y	body weight	METABOLIC	MET	Diabetes Mellitus, Type 2|Body Weight	3	3p25	PPARG	12304348	12450855		Doney A 2002	12429071	Ala12 and T1431 alleles		coding sequence	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	with and without diabetes from Glasgow and Dundee		KEW	5468	Hs.162646	body mass index		BMC genetics [electronic resource]. 2002 Nov;3:21	Haplotype analysis of the PPARgamma Pro12Ala and C1431T variants reveals opposing associations with body weight.	rs1805192,rs3856806	601487	5073	1	2002	 This study has therefore revealed an opposing interaction of these polymorphisms, which may help to explain previous inconsistencies in the association of PPARG polymorphisms and body weight.	BMI as QT, haplotypes										
133211	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20pter-p12	PRNP	4614796	4630234		Del Bo, R.  et al. 2005	16099550				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDPinfo	5621	Hs.472010			Neurobiology of aging. 2005	Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.		176640	19082	2	2005												
133179	Y	schizophrenia	PSYCH	PSY	Atrophy|Schizophrenia	20	20pter-p12	PRNP	4614796	4630234		Rujescu D et al. 2002	11771989				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			KGB	5621	Hs.472010			NeuroImage. 2002 Jan;15(1):200-6	Methionine homozygosity at codon 129 in the prion protein is associated with white matter reduction and enlargement of CSF compartments in healthy volunteers and schizophrenic patients.		176640	5134	1	2002												
133249		myopia	VISION	VIS		12	12q12-q13	PRPH	47975175	47978748		Li, J.  et al. 2002	16135441				Peripherin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006262.3	Chinese		CDC GDPinfo	5630	Hs.37044			Yi chuan. 2002 Sep;24(5):523-6	[Variation of the peripherin gene in Chinese with or without high myopia]		170710	19098	2	2002												
133274	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862	n	Kowalska A et al. 1998	9622000			intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		Poland	KGB	5663	Hs.592324			Dementia and geriatric cognitive disorders. 1998 May-Jun;9(3):137-9	Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer disease in Polish patients.		104311	5166	1	1998												
133832	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2p16.3	RTN4	55052830	55131238		Chen, W.  et al. 2004	15234466				Reticulon 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020532.4	Chinese	China	CDC GDPinfo	57142	Hs.429581			Neuroscience letters. 2004 Jul;365(1):23-7	No association between the genetic polymorphisms within RTN4 and schizophrenia in the Chinese population.		604475	13520	2	2004	Our current data suggest that the genetic polymorphisms within RTN4 are unlikely to confer an increased susceptibility to schizophrenia in the Chinese population.	Control:controls;Case Chinese schizophrenic cases										
133524	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	12	12p13	PTPN6	6926000	6940740	n	Matsushita M et al. 1999	10380707				Protein tyrosine phosphatase, non-receptor type 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002831.4	Japanese		Tsuchiya N	5777	Hs.63489			Immunogenetics. 1999 Jun;49(6):577-9			176883	5228	1	1999		Case:59; Control:138										
138531		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Hong CJ 2003	12951204				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182	clozapine response		Neuroscience letters. 2003 Oct;349(3):206-8	An association study of a brain-derived neurotrophic factor Val66Met polymorphism and clozapine response of schizophrenic patients.		113505	7536	1	2003	Our finding suggests that this BDNF-gene Val66Met polymorphism may be related to schizophrenia pathogenesis in patients responsive to clozapine treatment.	Control:198 normal controls;Case:93 schizophrenic patients	clozapine									
138555	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Matsushita, S.  et al. 2004	15375678				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			J Neural Transm. 2005 May;112(5):703-11	Brain-derived neurotrophic factor gene polymorphisms and Alzheimer's disease.		113505	8906	2	2004	These findings suggest that BDNF gene polymorphisms play some role in the development of AD.	Control:471 cognitively normal elderly controls;Case:487 Japanese Alzheimer's disease cases										
138592		anxiety disorder	PSYCH	PSY	Mood Disorders	11	11p13	BDNF	27633017	27699872		Jiang, X.  et al. 2005	15770238				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			Neuropsychopharmacology. 2005 Jul;30(7):1353-61	BDNF variation and mood disorders: a novelfunctional promoter polymorphism and Val66Met are associated with anxiety but have opposing effects.		113505	15431	2	2005	Our results suggest that in this population, the low activity -281 A allele may be protective against anxiety and psychiatric morbidity, whereas Met 66 may be a risk allele.	Cohort 480 unrelated individuals from US Caucasian, American Indian, and African American populations 										
118153		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Disease Progression	16	16p12-q21	CARD15	49288551	49324488		Walker LJ 2004	15008984				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Clinical and experimental immunology. 2004 Mar;135(3):490-6	Anti-Saccharomyces cerevisiae antibodies (ASCA) in Crohn's disease are associated with disease severity but not NOD2/CARD15 mutations.		605956	6831	1	2004	These data implicate ASCA as a specific marker of disease location and progression in CD, emphasizing the heterogeneity within IBD.	Case:228 patients [143 CD, 75 UC, 10 with indeterminate:colitis (IC)];Control:78 healthy controls	Saccharomces cerevisiae									
134636		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Alcolado JC 1991	1683635				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Caucasian		Y Wang	6514	Hs.167584			Diabetologia. 1991 Oct;34(10):734-6	Association between a restriction fragment length polymorphism at the liver/islet cell (GluT 2) glucose transporter and familial type 2 (non-insulin-dependent) diabetes mellitus.		138160	5422	1	1991												
141798		cystinuria	METABOLIC	MET	Cystinuria	2	2p16.3	SLC3A1	44356102	44401443		Schmidt, C.  et al. 2004	14991253				Prolyl endopeptidase-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000341.2		Germany	CDC GDPinfo	6519	Hs.112916			Urological research. 2004 May;32(2):75-8	The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria		104614	19614	2	2004	Generally, we could show that a stepwise analysis directed to the most common mutations in the two cystinuria genes is sufficient to detect variants in more than 75% of patients of European origin. The test consists of nine different PCR-based approaches and therefore represents a low-cost, reliable and timesaving diagnostic tool.	Cohort 22 unclassified cystinuric patients 										
135001		post-traumatic stress disorder	PSYCH	PSY	Genetic Predisposition to Disease|Stress Disorders, Post-Traumatic	17	17q11.1-q12	SLC6A4	25549031	25586831		Lee, H. J.  et al. 2005	15965993			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Depression and anxiety. 2005 ;21(3):135-9	Influence of the serotonin transporter promoter gene polymorphism on susceptibility to posttraumatic stress disorder.		182138	13959	2	2005												
134861		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Saleem Q et al. 2000	10893491				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Indian		KGB	6532	Hs.591192			American journal of medical genetics. 2000 Apr;96(2):170-2	Association analysis of 5HT transporter gene in bipolar disorder in the Indian population.		182138	5530	1	2000												
134846	N	bipolar and unipolar disorder	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Serretti A et al. 1999	10395220	44-bp insertion or deletion involving repeat elements 6-8		5'promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian (Caucasian)		Serretti	6532	Hs.591192	depressive symptomatology		Molecular psychiatry. 1999 May;4(3):280-3	Serotonin Transporter Gene (5-HTTLPR) is not Associated with Depressive Symptomatology in Mood Disorders		182138	5515	1	1999		Case:UP: 67; BP: 65										
134579		Crohn's disease; ulcerative colitis	IMMUNE	IMM	Diseases in Twins	5	5q31	SLC22A5	131733342	131759202		Dobrowolski, S. F.  et al. 2005	15714519				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDPinfo	6584	Hs.443572			Human mutation. 2005 Mar;25(3):306-13	Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.		603377	19484	2	2005	These results expand the mutational spectrum in primary carnitine deficiency and indicate dye-binding/high-resolution thermal denaturation as an ideal system to screen for mutations in diseases with no prevalent molecular alteration.	Cohort smaples with known mutation variants 										
117864		cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Rodriguez JA 2004	14729053				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Experimental cell research. 2004 Feb;293(1):14-21	Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain.		113705	1002	1	2004												
135554	N	Asthma. DRS. eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	C6613T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5663	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135874		homocysteine; vitamin B12; transcobalamin	METABOLIC	MET		11	11q11-q12	TCN1	59376859	59390594		von Castel-Dunwoody, K. M.  et al. 2005	15941899				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDPinfo	6947	Hs.2012			The American journal of clinical nutrition. 2005 Jun;81(6):1436-41	Transcobalamin 776C->G polymorphism negatively affects vitamin B-12 metabolism.		189905	23609	2	2005	 These data suggest that the TC 776C-->G polymorphism negatively affects the serum holo-TC concentration and provide additional evidence that vitamin B-12 status modulates the homocysteine concentration in this population.		Vitamin B12									
135997		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia	19	19q13.2	TGFB1	46528490	46551656		Li Z 2004	14604900				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Japan	KGB	7040	Hs.155218			Carcinogenesis. 2004 Feb;25(2):237-40	Increased risk of prostate cancer and benign prostatic hyperplasia associated with transforming growth factor-beta 1 gene polymorphism at codon10.		190180	5820	1	2004												
136408		Chlamydia	INFECTION	INF	Chlamydia Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Rupp, J.  et al. 2004	15175649				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Genes and immunity. 2004 Aug;5(5):435-8	CD14 promoter polymorphism -159C>T is associated with susceptibility to chronic Chlamydia pneumoniae infection in peripheral blood monocytes.		603030	25658	2	2004	Susceptibility for chronic chlamydial infection of PBMC in CAD patients appears associated with the CD14-159C>T promoter polymorphism encoding for enhanced CD14 expression.	Cohort 610 coronary artery disease (CAD) patients of Central European background 	Chlamydia pneumoniae									
136420	Y	Systemic Lupus Erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247	0.041	Hawn TR Proc Natl Acad Sci U S A. 2005 Jul 26;102	16027372	C1174T	a common stop codon polymorphism that abrogates signaling (allele C1174T) and is associated with an increased risk of infection	coding sequence	Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3			KGB	7100	Hs.135853	Resistance to Lupus		Proceedings of the National Academy of Sciences of the United States of America. 2005 Jul;102(30):10593-7	A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.		603031	5916	1	2005		Case:199; Control:401										
136439		non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Metastasis|	X	Xq21.3-q22	TMSB4X	12903145	12905267		Ji P 2003	12970751				Thymosin, beta 4, X-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021109.2			KGB	7114	Hs.522584			Oncogene. 2003 Sep;22(39):8031-41	MALAT-1, a novel noncoding RNA~~~ and thymosin beta4 predict metastasis and survival in early-stage non-small cell lung cancer.		300159	5917	1	2003												
136626		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kamizono S 2000	10885566				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Tissue antigens. 2000 May;55(5):449-52	Susceptible locus for obese type 2 diabetes mellitus in the 5'-flanking region of the tumor necrosis factor-alpha gene.		191160	6102	1	2000												
136605		chronic periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fassmann A 2003	12828656				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Czech	Czech Republic	KGB	7124	Hs.241570			Journal of periodontal research. 2003 Aug;38(4):394-9	Polymorphisms in the +252(A/G) lymphotoxin-alpha and the -308(A/G) tumor necrosis factor-alpha genes and susceptibility to chronic periodontitis in a Czech population.		191160	6081	1	2003	 Our data suggest that combined genotypes composed of the TNF-alpha and LT-alpha gene polymorphisms may influence the susceptibility to chronic periodontitis. We also showed that, comparing the two genes, the 1/1 genotype of the NcoI polymorphism in the first intron of the LT-alpha gene is a more informative marker and it may be one of the protective genetic factors against chronic periodontitis in our population.											
136565		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Badenhoop K et al. 1989	2577113				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of immunogenetics. 1989 Dec;16(6):455-60	TNF-alpha gene polymorphisms: association with type I (insulin-dependent) diabetes mellitus.		191160	6041	1	1989												
136496	Y	Lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Hajeer AH et al. 1997	9098928				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Tissue antigens. 1997 Mar;49(3 Pt 1):222-7	TNF microsatellite a2 b3 and d2 alleles are associated with systemic lupus erythematosus.		191160	5972	1	1997												
137178		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Aneuploidy	17	17p13.1	TP53	7505821	7531642		Kihana T et al. 1992	1429209				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Japanese journal of cancer research. 1992 Sep;83(9):978-84	High incidence of p53 gene mutation in human ovarian cancer and its association with nuclear accumulation of p53 protein and tumor DNA aneuploidy.		191170	6201	1	1992												
137408		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Lerman, C.  et al. 2003	12627466				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDPinfo	7166	Hs.591999			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		191060	28371	2	2003	Review article											
137427		nemaline myopathy	OTHER	OTH		6	6p22.3	TPMT	18236523	18263353		Zhang, J. P.  et al. 2003	12703994				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Chinese		CDC GDPinfo	7172	Hs.444319			Ai zheng. 2003 Apr;22(4):385-8	[Genetic polymorphism of the thiopurine S-methyltransferase of healthy Han Chinese]		187680	14509	2	2003	 The frequency of the known mutant TPMT alleles in Han Chinese population is low, and TPMT*3C appears to be the most prevalent among the known mutant TPMT allele in this population.	Cohort 225 healthy Han Chinese 										
137464		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p22.3	TPMT	18236523	18263353		Okada, Y.  et al. 2005	16272700				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Japanese	Japan	CDC GDPinfo	7172	Hs.444319			Biological & pharmaceutical bulletin. 2005 Nov;28(11):2117-9	Thiopurine methyltransferase genotype and phenotype status in Japanese patients with systemic lupus erythematosus.		187680	20015	2	2005												
137560		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Wintermeyer P et al. 2000	10923647				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		Germany	KGB	7345	Hs.518731			Neuroreport. 2000 Jul;11(10):2079-82	Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients.		191342	6316	1	2000												
137587	N	nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Albuminuria	4	4q28-q31	UCP1	141700499	141709457		Lindholm, E.  et al. 2004	15120704				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Scandinavia	CDC GDPinfo	7350	Hs.249211			Journal of diabetes and its complications. 2004 Mar-Apr;18(2):103-7	Putative role of polymorphisms in UCP1-3 genes for diabetic nephropathy.		113730	14606	2	2004	We conclude that  studied polymorphisms in the UCP1-3 genes do not play a major role in the development of micro- or macroalbuminuria in Scandinavian diabetic patients.	Control:106 control subjects without a family history of:diabetes;Case:218/216 Scandinavian type 2 diabetic patients with normal urinary albumin exretion rate (n=218) and with micro- or macroalbuniuria (n=216)										
137668		body mass; insulin; obesity; glucose	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Park, H. S.  et al. 2005	15959859				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2		Korea	CDC GDPinfo	7352	Hs.101337			Journal of human genetics. 2005 ;50(7):365-9	Single nucleotide variants in the beta2-adrenergic and beta3-adrenergic receptor genes explained 18.3% of adolescent obesity variation.		602044	27325	2	2005												
133917		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Zee, R. Y.  et al. 2002	12082592				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDPinfo	7356	Hs.523732			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		192020	28666	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
137732	Y	Calcium Nephrolithiasis	METABOLIC	MET	Kidney Calculi|Recurrence	12	12q12-q14	VDR	46521586	46585081	<0.05	Mossetti G 2003	12542560				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KEW	7421	Hs.524368	tubular citrate handling		Journal of internal medicine. 2003 Feb;253(2):194-200			601769	6377	1	2003	 These results point to a genetic association between BsmI and TaqI VDR polymorphisms and idiopathic hypocitraturia in calcium-oxalate recurrent SF patients.	Case:220; Control:114										
137819	Y	chronic periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Tachi Y 2003	14572874				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	KGB	7421	Hs.524368			Life sciences. 2003 Nov;73(26):3313-21	Vitamin D receptor gene polymorphism is associated with chronic periodontitis.		601769	6466	1	2003												
138019	Y	dominant type 1 von Willebrand's disease	OTHER	OTH	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097		Casana P et al. 2001	11529461				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			KGB	7450	Hs.440848			Annals of hematology. 2001 Jul;80(7):381-3	Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease.		193400	6509	1	2001												
138080	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q12.1	XBP1	27520547	27526560		Masui, T.  et al. 2005	15927087	XBP1-116C/G			X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2			CDC GDPinfo	7494	Hs.437638			The international journal of neuropsychopharmacology. 2006 Feb;9(1):83-8	A possible association between the -116C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder.		194355	14791	2	2005	The association between the -116C/G polymorphism and clinical efficacy of mood stabilizers should be further investigated in a prospective study with a larger sample.	Cohort Japanese patients with bipolar disorder 	lithium									
138204		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Chen, C. C.  et al. 2005	16172101				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDPinfo	7515	Hs.98493			International journal of epidemiology. 2005 Dec;34(6):1310-8	Association of cytokine and DNA repair gene polymorphisms with hepatitis B-related hepatocellular carcinoma.		194360	27678	2	2005	 Genetic variations in cytokine and DNA repair genes contribute to susceptibility to HBV-related HCC. Smoking increased such genetic susceptibility.		smoking (tobacco)									
123415		mental retardation	DEVELOPMENTAL	DEV	Muscular Dystrophies|Mental Retardation|Abnormalities, Multiple|	19	19q13.32	FKRP	51941142	51953582		Louhichi N 2004	14652796				Fukutin related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024301.3		Tunisia	KGB	79147	Hs.515493			Neurogenetics. 2004 Feb;5(1):27-34	New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.		606596	6839	1	2004												
132705	N	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Translocation, Genetic	X	Xq21.2	POF1B	84419057	84521404		Bione, S.  et al. 2004	15459172				Premature ovarian failure, 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024921.2			CDC GDPinfo	79983	Hs.267038			Human reproduction (Oxford, England). 2004 Dec;19(12):2759-66	Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.			23231	2	2004	 Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype.	Cohort 200+ Italian premature ovarian failure patients 										
115460		asthma	IMMUNE	IMM	Asthma	20	20p13	ADAM33	3596617	3610738		Blakey, J.  et al. 2005	15790980				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDPinfo	80332	Hs.173716			Thorax. 2005 Apr;60(4):274-6	Contribution of ADAM33 polymorphisms to the population risk of asthma.		607114	8390	2	2005	 The additional risk imparted by this variation would account for 50,000 excess asthma cases in the UK alone. This study also demonstrates the size of study required to investigate such hypotheses adequately.											
118265		hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11p13	CAT	34417053	34450183		Hsueh, Y. M.  et al. 2005	16076760				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2		Taiwan	CDC GDPinfo	847	Hs.502302			Journal of toxicology and environmental health Part A. 2005 Sep;68(17-18):1471-84	Genetic polymorphisms of oxidative and antioxidant enzymes and arsenic-related hypertension.		115500	14047	2	2005			arsenic									
118259	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	CAT	34417053	34450183		Goulas, A.  et al. 2002	12231449	-262C/T			Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDPinfo	847	Hs.502302			Neuroscience letters. 2002 Sep;330(2):210-3	An association study of a functional catalase gene polymorphism, -262C-->T, and patients with Alzheimer's disease.		115500	9016	2	2002	We conclude that  the catalase gene -262C-->T polymorphism does not confer a protective effect with respect to AD.	Control:130 control individuals;Case:137 Alzheimer's disease patients										
132626		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.3	PLA2G4C	53242916	53305826		Wei, J.  et al. 2005	16181776				Phospholipase A2, group IVC (cytosolic, calcium-independent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003706.1			CDC GDPinfo	8605	Hs.631562			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):441-5	A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia.		603602	25422	2	2005												
118372	N	panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.4	CCKBR	6237541	6249933		Yamada K et al. 2001	11515749				Cholecystokinin B receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176875.2			KGB	887	Hs.203			J Neural Transm. 2001 ;108(7):837-48	Association studies of the cholecystokinin B receptor and A2a adenosine receptor genes in panic disorder.		118445	1098	1	2001	Our data therefore suggests that the CCKBR and A2aAR genes do not play major roles in the development of this disease.	Control:100 matched controls (not otherwise specified in:abstract);Case:91 unrelated panic disorder patients										
118771	N	coronary artery disease and myocardial infarction.	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439	n	Koch W et al. 2002	12075251				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KGB	929	Hs.163867			American heart journal. 2002 Jun;143(6):971-6	CD14 gene -159C/T polymorphism is not associated with coronary artery disease and myocardial infarction.		158120	1135	1	2002	 These findings indicate that, in the sample of patients examined in this study, the -159C/T polymorphism of the CD14 gene is not related to CAD or MI.	Control:340/104 Subjects matched with patients for age and gender but without angiographic evidence of CAD and without symptoms or signs of MI (n = 340) and a group of healthy blood donors (n = 104);Case:998/793 Consecutive patients with significant, angi										
118752	Y	atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q22-q32	CD14	139991500	139993439	p<0.01	Koppleman GH 2001	11282774	C allele of the CD14/-159	We conclude that the -159 C-to-T promoter polymorphism in the CD14 gene may result in expression of a more severe allergic phenotype.		CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			KCB	929	Hs.163867			American journal of respiratory and critical care medicine. 2001 Mar;163(4):965-9	Association of a promoter polymorphism of the CD14 gene and atopy.		158120	1116	1	2001	We conclude that  the -159 C-to-T promoter polymorphism in the CD14 gene may result in expression of a more severe allergic phenotype.	Control:158:spouses The Netherlands;Case:159 probands with asthma The Netherlands										
132218	Y	hearing loss, sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	2	2p23.1	OTOF	26533574	26635070		Rodriguez-Ballesteros, M.  et al. 2003	14635104				Otoferlin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_194248.1			CDC GDPinfo	9381	Hs.91608			Human mutation. 2003 Dec;22(6):451-6	Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).		603681	18787	2	2003	The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.	Cohort 37 subjects with mutations in OTOF 										
143341	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections	6	6q23-24	IFNGR1	137560314	137582200		Thye T, Burchard GD, Nilius M, Muller-Myhsok B, Ho	12516030			5'promoter	interferon gamma receptor		African			3459				American Journal of Human Genetics	Genomewide linkage analysis identifies polymorphism in the human interferon-gamma receptor affecting Helicobacter pylori infection.		107470			2003												
143361	Y	autism	PSYCH	PSY		1	1p13.3	GSTM1	110031964	110037890		BMC Genet. 2006 Feb 10;7(1):8	16472391				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			Julia Gohlke	2944	Hs.301961			BMC Genet. 2006 Feb 10;7(1):8	Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism		138350			2006	Both analyses support (p = 0.046 for the proposed test, p = 0.028 for the case-control analysis) an association of the homozygous GSTM1 deletion genotype with autism.											
143343	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	2	2q37.1	SP110	230741895	230792932		Thye T, et al. 2006	16816019				NUCLEAR BODY PROTEIN SP110	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=17986255	African			3431	Hs.145150			Journal of Medical Genetics	No associations of human pulmonary tuberculosis with Sp110 variants.		604457			2006	Based on the results obtained in this case-control study, the hypothesis that Sp110 variants and haplotypes might be associated with distinct phenotypes of human M tuberculosis infection is doubtful.											
141945	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31-q33	IL12B	158674368	158690059		Niimi, T.  et al. 2002	11813133			promoter	Bronchial hyperresponsiveness-1 (bronchial asthma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2		Japan	CDC GDPinfo	3593	Hs.674			American journal of human genetics. 2002 Mar;70(3)	A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.		600807	8938	2	2002	In a case-control study, those with a 112A allele (G/A or A/A) were 4.1 times more likely to have asthma than were those with the wild-type allele (G/G).	Case:84 Japanese patients with asthma;Control:85 healthy control individuals										
141950		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Dicioccio, R. A.  et al. 2004	15466974				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1		United States|Great Britain|Denmark	CDC GDPinfo	6790	Hs.250822			Cancer epidemiology, biomarkers & prevention. 2004 Oct;13(10):1589-94	STK15 Polymorphisms and Association with Risk of Invasive Ovarian Cancer		603072	8852	2	2004	These results suggest a model of dominant inheritance of ovarian cancer risk by the I31 allele of F31I and that the I31 allele may be a common ovarian cancer susceptibility allele of low penetrance.	Case:1,821 ovarian cases combined from 3 population-based ovarian cancer case-control studies United Kingdom, United States, and Denmark;Control:2,467 combined controls										
115780	N	Asthma. BHR. total IgE. airway obstruction. FEV1 & FVC increased	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381	n	Summerhill 2000	10934093	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Hutterites	South Dakota|Europe	KCB	154	Hs.591251	ADRB2 associated with reduced lung function, but not asthma.		American journal of respiratory and critical care	beta(2)-adrenergic receptor Arg16/Arg16 genotype is associated with reduced lung function, but not with asthma, in the Hutterites.		109690	172	1	2000	This study demonstrates that the observed linkage to asthma in the 5q23-31 region is unrelated to variation in the beta(2)AR gene. However, it is the first study to suggest that the beta(2)AR Arg16Gly polymorphism influences either lung growth or the rate of decline of lung function with age.											
131854	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium	7	7p15.1	NPY	24290333	24298002		Okubo And, T.  et al. 2001	11410744				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDPinfo	4852	Hs.1832			Alcoholism, clinical and experimental research. 2001 Jun;25(6 Suppl):59S-62S	Polymorphism of the neuropeptide Y gene: anassociation study with alcohol withdrawal.		162640	23163	2	2001	 Our data suggested that a C to T substitution at the 5671 locus of the NPY gene may be associated with seizure during alcohol withdrawal.	Case:163 male alcoholics with different withdrawal symptoms (93 with delirium tremens, 71 with seizures, 49 with hallucinations):Japan;Control:98 male controls:Japan										
143065	Y	SLE	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559	0.0001	Shankarkumar, U. et al. 2003	12480686	HLA-DRB1*03 and DQB1*0302		coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Western India		Dr.U.Shankarkumar	3123	Hs.534322	DRB1*03 , DQB1*0302		Annals of the rheumatic diseases. 2003 Jan;62(1):9	HLA DRB1*03 and DQB1*0302 association in a subset of patients severely affected with systemic lupus erythematosis from Western India		142857			2003		53 SLE patients studied and controls 110 										
142602		mediterranean visceral leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Meddeb-Garnaoui A et al. 2001	11334675	HLA-DR2/DR13 , HLA-DQB1*0201/-			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Mediterranean Region	KGB	3123	Hs.534322			Human immunology. 2001 May;62(5):509-17	Association analysis of HLA-class II and class III gene polymorphisms in the susceptibility to mediterranean visceral leishmaniasis.		142857	7967	1	2001												
126159		kidney transplant complications	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Rees, M. T.  et al. 2003	14551034				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Transplant immunology. 2003 Oct-Nov;12(1):73-8	HLA-A, B, C, DRB1, DQB1 matching heterogeneity in 'favourably matched' kidney recipients		604305	26144	2	2003	Considerable HLA-A, -B, -C, -DR, -DQ matching heterogeneity exists even amongst 'well matched' renal transplant patient groups. Little is known about the effects of combinations of mismatched specificities on graft survival. Thus, further investigation is merited particularly for HLA-C and -DQ mismatching.	Cohort 237 cadaveric donor/recipient pairs 										
126141		hepatosplenic schistosomiasis japonica	INFECTION	INF	Schistosomiasis japonica|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zhang, J. H.  et al. 2005	16042197				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhongguo ji sheng chong xue yu ji sheng chong bing za zhi. 2005 Feb;23(1):9-Jun	[Studies on the association of human leukocyte antigen class II alleles with advanced hepatosplenic schistosomiasis japonica]		604305	24685	2	2005	 The study indicated that HLA-DRB1 x 04, DPA1 x 0103. DQA1 x 0601 and DQB1 x 0201 showing a positive, statistically significant (P<0.05) association with advanced hepatosplenic schistosomiasis japonica may be the susceptible genes, whereas HLA-DQA1 x 0501 and DQBH1 x 0601 may be more relevant to a resistance to the disease.											
125831	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Rewers, A.  et al. 2003	14679080				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2003 Nov;1005:301-9	Ethnic differences in the associations between the HLA-DRB1*04 subtypes and type 1 diabetes.		604305	17386	2	2003	In summary, on the DRB1*03,DQB1*0201/DRB1*04,DQB1*0302 genotypes, the *0403 allele confers relative protection from type 1 diabetes and development of islet autoantibodies in both Hispanics and NHWs and is associated with older age at diabetes diagnosis. Although the associations between diabetes and*0401 and *0405 appear to differ somewhat between Hispanics and NHWs, overall there is no significant difference between these two ethnic groups.	Case:193 type 1 diabetic patients;Control:205 nondiabetic controls										
125805	Y	Addison's disease	IMMUNE	IMM	Addison Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Pani, M. A.  et al. 2002	12072047				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical endocrinology. 2002 Jun;56(6):773-7	Preliminary evidence that an endogenous retroviral long-terminal repeat (LTR13) at the HLA-DQB1 gene locus confers susceptibility to Addison's disease.		604305	17353	2	2002	 We have found preliminary evidence that the endogenous retroviral element DQ-LTR13, but not LTR3, is associated with Addison's disease. LTR13 appears to enhance HLA-DQ8 mediated disease risk. This retroviral insertion therefore might represent a novel susceptibility factor in Addison's disease, but these findings need to be confirmed in a larger data set.	Control:160:controls;Case:87 Addison's disease patients										
125154		diabetes, type 2; alveolitis, extrinsic allergic	METABOLIC	MET		6	6p21.3	HLA-A	29963507	30085130		Monte, S. J.  et al. 2004	15666025				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Indian		CDC GDPinfo	3105	Hs.181244			Rev Assoc Med Bras. 2004 Oct-Dec;50(4):422-6	[HLA polymorphism in a racially admixed sample of the population of Teresina, Piau????]		142800	11063	2	2004	 The genetic composition of Teresina's racially admixed is predominantly bi-hybrid of genes originated from Blacks and Caucasians with little contribution from Amerindian genes.	Cohort 97 unrelated healthy racially admixed people of Teresina Teresina, Piaui 										
125232		leukemia; hemochromatosis; iron metabolism	CANCER	CAN	Leukemia|Lymphoma|Hemochromatosis|Iron Overload	6	6p21.3	HLA-A	29963507	30085130		Dorak, M. T.  et al. 2002	12002748				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Leukemia & lymphoma. 2002 Mar;43(3):467-77	Hemochromatosis gene in leukemia and lymphoma.		142800	21703	2	2002	Review article											
142450	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	6	6p21.3	HLA-B	31344507	31432914		Wang B et al. 2001	11402452	B27				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			KGB	3106	Hs.77961			Zhonghua yi xue yi chuan xue za zhi. 2001 Jun;18(3):209-12	Study on the association of transporter associated with antigen processing gene with ankylosing spondylitis and HLA-B27 in Han nationality		142830	7815	1	2001	 It is possible that there are new TAP alleles in Han nationality. No association was found between TAP alleles and AS. And the homozygosity for codon 333 which is Val/Val seems to offer resistance to AS among those HLA-B27(+) individuals. In normal individuals, negative correlation was found between heterozygote Ala/Thr and B27, and possibly there was positive correlation between phenotype Ala/Ala and B27.											
143401	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		ROGER P et al. 2007	10976654				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			Roger	2	Hs.212838						103950			2007												
133381		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Starinsky, S.  et al. 2004	15523694				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3		Israel	CDC GDPinfo	5728	Hs.500466			International journal of cancer. Journal internati	Genotype phenotype correlations in Israeli colorectal cancer patients.		601728	28253	2	2004	This preliminary study shows that genetic factors play a role in determining CRC phenotypic features and that a larger cohort with longer follow-up is clearly needed.	Cohort 456 colorectal cancer patients Israel 										
114523		macular degeneration, age-related	VISION	VIS	Macular Degeneration	12	12p13.3-p12.3	A2M	9111570	9159825			16384981				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDPinfo	2	Hs.212838			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		103950	20172	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
114516		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Prince, J. A.  et al. 2001	11436125				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Sweden	CDC GDPinfo	2	Hs.212838			European journal of human genetics. 2001 Jun;9(6):437-44	Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms inprior candidate genes for sporadic Alzheimer's disease.		103950	18073	2	2001	We found no strong evidence of association for any of these loci with AD in this population. While the possibility exists that the genes analysed are involved in AD (ie they have weak effects and/or are population specific), results reinforce the need for extensive replication studies if we are to be successful in defining true risk factors in complex diseases.	Control:186 Swedish control subjects:Sweden;Case:204 Swedish patients with sporadic late-onset AD:Sweden										
114487	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Chen D 2004	14675603				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		China	KGB	2	Hs.212838			Journal of the neurological sciences. 2004 Jan;217(1):13-5	Association of alpha 2-macroglobulin polymorphisms and Alzheimer disease in Mainland Han Chinese.		103950	7026	1	2004	These results indicated that A2M-D allele was probably a weak AD protective factor, and there was a possible interaction of APOE-epsilon4 and A2M-G alleles to increase AD risk in Mainland Han Chinese.	Case Alzheimer's disease patients;Control:controls		APOE	epsilon4	A2M	G			Y		Increased risk for Alzheimers Disease in Mainland Han Chinese
114476	Y	normal variation	NORMALVARIATION	NV		12	12p13.3-p12.3	A2M	9111570	9159825		Jaiswal AK et al. 1985	2415929			other	Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			KGB	2	Hs.212838			Nucleic acids research. 1985 Nov;13(22):8287	Three RFLPs associated with the human alpha 2-macroglobulin gene (A2M).		103950	7015	1	1985												
131312	Y	Lung Cancer	CANCER	CAN	Lung Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Bouchardy C 1998	9731715	*3. *4. *10. *11. *14. and *15			N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	French Caucasian		TJB	9	Hs.591847			Pharmacogenetics. 1998 Aug;8(4):291-8			108345	12	1	1998		Case:150; Control:172										
131305	Y	Hepatitis	OTHER	OTH	Hepatitis, Toxic|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Huang YS 2002	11915035				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			TJB	9	Hs.591847			Hepatology (Baltimore, Md). 2002 Apr;35(4):883-9			108345	5	1	2002												
131451		cytogenetic studies	OTHER	OTH	DNA Damage|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Leng, S. G.  et al. 2004	15061915				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 2004 Mar;38(2):94-8	[A study on the inherited susceptibility of chromosomal damage in peripheral blood lymphocytes among coke oven workers]		243400	27801	2	2004	 Significant associations between genetic polymorphisms in GSTM1, NQO1 and mEH gene and risk for chromosomal damage were found among occupational PAH-exposed workers, which related to the mechanism of PAH carcinogenesis.	Case:149 coke oven workers;Control:24 referents without occupational polycyclic aromatic hydrocarbon exposure	alcohol smoking (tobacco)									
131437		sulphamethoxazole hypersensitivity	PHARMACOGENOMIC	PHARM	HIV Seropositivity|Hypersensitivity	8	8p22	NAT2	18293034	18303003		Pirmohamed, M.  et al. 2000	11186133				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDPinfo	10	Hs.2			Pharmacogenetics. 2000 Nov;10(8):705-13	Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity		243400	27130	2	2000	Our results show that genetic polymorphisms in drug metabolizing enzymes are unlikely to be major predisposing factors in determining individual susceptibility to co-trimoxazole hypersensitivity in HIV-positive patients.	Case:56 HIV-positive patients with SMX hypersensitivity;Control:89 HIV-positive patients without SMX hypersensitivity	co-trimoxazole									
131364		Atopy	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Dermatitis, Atopic|Hypersensitivity	8	8p22	NAT2	18293034	18303003		Gawronska-Szklarz 1999	10340922	NAT2*4. *5			N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1		Poland	KGB	10	Hs.2			Clinical pharmacology and therapeutics. 1999 May;65(5):562-9			243400	31	1	1999												
114524		sleep disorders; schizophrenia; body mass	OTHER	OTH		17	17q25	AANAT	71975245	71977794		Sekine, A.  et al. 2001	11393533				Arylalkylamine N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001088.1	Japanese		CDC GDPinfo	15	Hs.431417			Journal of human genetics. 2001 ;46(6):314-9	Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population.		600950	12117	2	2001	Variations at these loci may contribute to an understanding of the way in which different genotypes may affect the activities of human N-acetyltransferases, especially as regards the therapeutic efficacy of certain drugs and antibiotics.	Cohort 48 healthy Japanese volunteers 										
114565		cholesterol, HDL; triglycerides; atherosclerosis, coronary	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Whiting, B. M.  et al. 2005	16086925				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			American heart journal. 2005 Aug;150(2):243-50	Candidate gene susceptibility variants predict intermediate end points but not angiographic coronary artery disease.		600046	19415	2	2005	 Five SNPs predicted differences in risk-related lipids but not angiographic CAD. These discrepancies suggest that genetic determinants of CAD are complex and intermediate phenotypes are poor surrogates. These findings have important implications for future directions in genetic research.											
114549	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	9	9q31.1	ABCA1	106583104	106730257		Clee, S. M.  et al. 2001	11238261				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			Circulation. 2001 Mar;103(9):1198-205	Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.		600046	14857	2	2001	 These data suggest that common variation in ABCA1 significantly influences plasma lipid levels and the severity of CAD.	Cohort Europeans 										
114546	Y	triglycerides	METABOLIC	MET	Coronary Artery Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Souverein, O. W.  et al. 2005	15657615				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDPinfo	19	Hs.429294			European journal of human genetics. 2005 Apr;13(4):445-51	Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD		600046	12189	2	2005	In conclusion, this study showed statistically independent effects of gene variants in the APOA1 and LPL genes on fasting plasma levels of TG. Nevertheless, only a small part of variation in TG levels could be explained by the polymorphisms.	Cohort 512 men with coronary artery disease from the REGRESS study 										
114539	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q31.1	ABCA1	106583104	106730257		Daimon, M.  et al. 2005	15721294				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Japanese	Japan	CDC GDPinfo	19	Hs.429294			Biochemical and biophysical research communication	Association of the ABCA1 gene polymorphisms with type 2 DM in a Japanese population.		600046	8193	2	2005	Diplotype analysis also showed a significant association of the diplotypes with the haplotype 2	Control:227 normoglycemic controls;Case:72/75 type 2 diabetic cases (n=72) and IGT cases (n=75)										
114530		age and adiposity	AGING	AGE		9	9q31.1	ABCA1	106583104	106730257		Srinivasan SR 2003	12870173				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			KGB	19	Hs.429294	serum high-density lipoprotein cholesterol and triglycerides		Metabolism:  clinical and experimental. 2003 Jul;52(7):930-4	R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study.		600046	83	1	2003												
114577	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Baum, L.  et al. 2003	12592048				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2	Chinese	Hong Kong	CDC GDPinfo	24	Hs.416707			Ophthalmologica. 2003 Mar-Apr;217(2):111-4	ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.		601691	14873	2	2003	Therefore, ABCA4 splicing mutations may be associated with a small proportion of AMD cases.	Case:140/18 age-related macular degeneration disease patients (n=140) and Stargardt's disease patients (n=18);Control:95 normal controls										
138334	Y	medium-chain acyl-CoA dehydrogenase (MCAD) deficiency	METABOLIC	MET	Lipid Metabolism, Inborn Errors	1	1p31	ACADM	75962869	76001771		Zhang Z et al. 1993	8099254				acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2			KGB	34	Hs.445040			American journal of human genetics. 1993 Jun;52(6):1111-21	Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.		607008	97	1	1993												
115429		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	15	15q11-q14	ACTC	32869724	32875153		Ingles, J.  et al. 2005	16199542				Actin, alpha, cardiac muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005159.3			CDC GDPinfo	70	Hs.118127			Journal of medical genetics. 2005 Oct;42(10):e59	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications forgenetic testing and counselling.		102540	19944	2	2005	 Multiple gene mutations occurring in HCM families may result in a more severe clinical phenotype because of a double dose effect. This highlights the importance of screening the entire panel of HCM genes even after a single mutation has been identified.											
115448	Y	intrauterine growth	REPRODUCTION	REP		20	20q12-q13.11	ADA	42681576	42713790		Gloria-Bottini, F.  et al. 2000	11534018				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDPinfo	100	Hs.255479			American journal of human biology. 2000 Mar;12(2):214-220	Adenosine deaminase-acid phosphatase association and the environment: A study in a continentalItalian population.		608958	20253	2	2000	The present data suggest that ADA and ACP1 interact during intrauterine life with effects on development and survival and that such effects are dependent on local environment and season of	Cohort 350 newborns Rome, Italy Cohort 351 newborns Penne, Italy 										
115444	Y	autism	PSYCH	PSY	Autistic Disorder	20	20q12-q13.11	ADA	42681576	42713790		Bottini, N.  et al. 2001	11354825				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDPinfo	100	Hs.255479			Neurogenetics. 2001 Mar;3(2):111-3	Autism: evidence of association with adenosinedeaminase genetic polymorphism.		608958	15013	2	2001	We suggest that this putative genotype-dependent reduction in ADA activity may be a risk factor for the development of autism.	Case:118 autistic children two Italian populations;Control:126 healthy children from Rome population (n=82) and Sicilian population (n=44)										
115474		bipolar disorder	PSYCH	PSY	Bipolar Disorder	16	16p13.3	ADCY9	3952652	4106187		Toyota T et al. 2002	12082561				Adenylate cyclase 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001116.2			KGB	115	Hs.391860			Molecular psychiatry. 2002 ;7(5):450-2	Association analysis of adenylate cyclase type 9 gene using pedigree disequilibrium test in bipolar disorder.		603302	113	1	2002												
115627	Y	alcohol dependence; cocaine dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	4	4q21-q24	ADH4	100263855	100284472		Luo, X.  et al. 2005	16220108				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3			CDC GDPinfo	127	Hs.1219			Pharmacogenetics and genomics. 2005 Nov;15(11):755-68	ADH4 gene variation is associated with alcohol and drug dependence: results from family controlled andpopulation-structured association studies.		103740	15057	2	2005												
115631		triglycerides; blood pressure, arterial; antioxidant activity	METABOLIC	MET		4	4q23-q24	ADH7	100552440	100575548			15456134				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3	Russian		CDC GDPinfo	131	Hs.389			Molekuliarnaia biologiia. 2004 Jul-Aug;38(4):625-31	[Alcohol dehydrogenases ADH1B and ADH7 gene polymorphism in Russian population from the Siberian region]		600086	20291	2	2004	The statistically significant decrease of serum very low density lipoproteins (LPVLD) level (on 9.95%, P = 0.045) and close to statistically significant decrease systolic pressure (on 6.80%, P = 0.068) and serum triglycerides level (on 6.16 of %, P = 0.058) were revealed among the A2 allele ADH1B gene carriers in Tomsk population.	Cohort individuals from three Russian populations from the Siberian region Siberia, Russia 										
115650	Y	caffeine-induced anxiety.	PSYCH	PSY		22	22q11.23	ADORA2A	23143708	23168325		Alsene K 2003	12825092				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			KGB	135	Hs.197029			Neuropsychopharmacology. 2003 Sep;28(9):1694-702	Association between A2a receptor gene polymorphisms and caffeine-induced anxiety.		102776	145	1	2003	The study shows that an adenosine receptor gene polymorphism that has been associated with Panic Disorder is also associated with anxiogenic responses to an acute dose of caffeine.	Cohort 94 healthy, infrequent caffeine users	caffeine									
115859		Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q31-q32	ADRB2	148186348	148188381		Hall IP1995	7739309	46G			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			KCB	154	Hs.591251			Lancet. 1995 May;345(8959):1213-4			109690	251	1	1995												
115853	Y	Parasitic infection	INFECTION	INF	Helminthiasis|Asthma	5	5q31-q32	ADRB2	148186348	148188381	P<0.01	Ramsay CE 1999	10323253	Gly16Arg			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Venezuela	KGB	154	Hs.591251			Human genetics. 1999 Mar;104(3):269-74			109690	245	1	1999												
115788	N	BMI	METABOLIC	MET	Cardiovascular Diseases	5	5q31-q32	ADRB2	148186348	148188381	n	Santos JL 2002	11882399	Gln27Glu			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Chile	KGB	154	Hs.591251			Nutrition (Burbank, Los Angeles County, Calif). 2002 Mar;18(3):255-8			109690	180	1	2002	 We found insufficient evidence to support an association between polymorphisms Gln27Glu and Trp64Arg of the ADRB2 and ADRB3 genes, respectively, with body mass index and other cardiovascular risks in the rural Aymara population from Chile.											
115976		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Weight Gain	8	8p12-p11.2	ADRB3	37939672	37943341		Oeveren van-Dybicz AM 2001	11213599				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Caucasian		Y Wang	155	Hs.2549			Diabetes, obesity & metabolism. 2001 Feb;3(1):47-51	Beta 3-adrenergic receptor gene polymorphism and type 2 diabetes in a Caucasian population.		109691	315	1	2001	 Our results suggest that the Trp64Arg mutation is not a major determinant of metabolic disorders (type 2 diabetes, obesity) and chronic complications of type 2 diabetes in a Dutch population.											
115948		mild gestational diabetes mellitus	OTHER	OTH	Diabetes, Gestational|Body Weight|Weight Gain	8	8p12-p11.2	ADRB3	37939672	37943341		Festa A et al. 1999	10323402				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			KGB	155	Hs.2549			The Journal of clinical endocrinology and metabolism. 1999 May;84(5):1695-9	Trp64Arg polymorphism of the beta3-adrenergic receptor gene in pregnancy: association with mild gestational diabetes mellitus.		109691	287	1	1999												
115943	N	moderate overweight	OTHER	OTH	Obesity|Body Weight	8	8p12-p11.2	ADRB3	37939672	37943341	n	Shiwaku K et al. 1998	9867086				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Japanese	Japan	KGB	155	Hs.2549			Metabolism:  clinical and experimental. 1998 Dec;47(12):1528-30	A Trp 64 Arg mutation in the beta3-adrenergic receptor gene is not associated with moderate overweight in Japanese workers.		109691	282	1	1998												
115939	Y	Obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight	8	8p12-p11.2	ADRB3	37939672	37943341		Corella D 2001	11576322	Trp64Arg. HindIII- Lipoprotein lipase. and APO E			Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Mediterranean	Spain	TJB	155	Hs.2549			Journal of internal medicine. 2001 Oct;250(4):348-60			109691	278	1	2001	 The Trp64Arg mutation was associated with BMI and lipids in men. In women, an additional gene-gene interaction with the LPL-HindIII polymorphism may explain the results.											
116035	N	Ischemic Heart Disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Diabetic Angiopathies|Diabetes Mellitus|Diabetes Mellitus, Type 2	6	6p21.3	AGER	32256723	32260001	ns	Hudson BI 2001	11679477	-429 T/C and -374 T/A	Increased transcription in vitro	5'promoter	Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3	Caucasian		Y Wang	177	Hs.642645	Complications		Diabetes care. 2001 Nov;24(11):2004	Study of the -429 T/C and -374 T/A receptor for advanced glycation end products promoter polymorphisms in diabetic and nondiabetic subjects with macrovascular disease.		600214	329	1	2004		Case:157 type 2 diabetic subjects with ischemic heart disease, 390 nondiabetic subjects with IHD; Control:199 control subjects										
116250	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Wang WY et al. 1997	9084931				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			Clinical genetics. 1997 Jan;51(1):31-4	Association of angiotensin II type 1 receptor gene polymorphism with essential hypertension.		106165	442	1	1997												
116236	Y	essential hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q21-q25	AGTR1	149898347	149943480	<0.05	Stankovic A 2003	12482634	CC			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Serbian	Yugoslavia	KEW	185	Hs.477887			Clinica chimica acta; international journal of clinical chemistry. 2003 Jan;327(2-Jan):181-5			106165	428	1	2003		Case:100; Control:198										
116548		Asthma drug response	IMMUNE	IMM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Drazen JM 1999	10369259	(GGGCGG)n=3-6			Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			KCB	240	Hs.89499			Nature genetics. 1999 Jun;22(2):168-70			152390	503	1	1999												
116607		coeliac disease.	IMMUNE	IMM	Celiac Disease	15	15q25-q26	ANPEP	88129129	88159072		Giordano M et al. 1999	10738533				Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001150.1			KGB	290	Hs.1239			Annals of human genetics. 1999 May;63(Pt 3):207-15	Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease.		151530	515	1	1999												
116706	Y	hyperalphalipoproteinemia	METABOLIC	MET	Hyperlipoproteinemias	11	11q23-q24	APOA1	116211678	116213548		Pagani F et al. 1992	1505654			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			European journal of epidemiology. 1992 May;8 Suppl 1:54-8	Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia.		107680	559	1	1992												
116695	Y	reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity	OTHER	OTH	Tangier Disease	11	11q23-q24	APOA1	116211678	116213548		Matsakis M et al. 1993	8096444				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			KGB	335	Hs.93194			Clinical genetics. 1993 Jan;43(1):39-43	Hypoalphalipoproteinaemia and polymorphisms associated with reduced expression of the apolipoprotein A-I gene and resolution of disputed paternity in a large English family.		107680	548	1	1993												
116793		body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoA1; apoA2; fasting blood sugar; fasting blood sugar	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q21-q23	APOA2	159458706	159460042		Han, Z.  et al. 2002	12116231				Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1		Micronesia	CDC GDPinfo	336	Hs.237658			American journal of medical genetics. 2002 Jul;110(3):234-42	Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.		107670	20440	2	2002	We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease.	Cohort 1,102 individuals from the Pacific island of Kosrae Micronesia 										
116904	Y	apolipoprotein B gene polymorphism	OTHER	OTH		2	2p24-p23	APOB	21077805	21120450		Feng N et al. 1998	10322811				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			KGB	338	Hs.120759			Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]. 1998 Mar;32(2):106-8	Association between levels of plasma lipid profile with apolipoprotein B gene polymorphism in 93 children		107730	599	1	1998	 To certain extent, there is association between polymorphism of Xba I locus of Apo B gene and levels of plasma lipid profile in children, which may be a genetic marker for abnormal level of plasma lipid profile during childhood.											
117012	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias	19	19q13.2	APOC2	50141082	50144658	non significant	Gutierrez C et al. 1996	9064379	SNP 2 kb from 3' end Apo CII	unknown	coding sequence	apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG568052	Ca		KGB	344	Hs.75615			Med Clin (Barc). 1996 Nov;107(15):561-5	Apolipoprotein AI-CIII B and CII gene polymorphisms in patients with non-insulin dependent diabetes mellitus. Association with hyperlipemia trans Polimorfismos de los genes de las apolipoproteinas AI-CIII B y CII en pacientes con diabetes mellitus no		608083	647	1	1996	 The apolipoprotein CII can be related with the presence of hypertriglyceridaemia in non insulin dependent diabetes mellitus patients.	Case:86; Control:53										
138377	Y	familial combined hyperlipidemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23.1-q23.2	APOC3	116205833	116208997		Groenendijk M et al. 1999	10357835			promoter	Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			KGB	345	Hs.73849	plasma lipids and apolipoproteins		Journal of lipid research. 1999 Jun;40(6):1036-44	Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-III promoter region in familial combined hyperlipidemia.		107720	7140	1	1999												
138450		ischemia	CARDIOVASCULAR	CARD	Myocardial Ischemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Baitasova, N. B.  et al. 2001	11840804				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			Klinicheskaia meditsina. 2001 ;79(12):19-21	[Apolipoprotein genes in patients with ischemic heart disease]		107720	20480	2	2001	No significant relationship between the studied genes polymorphism and coronary disease was detected in the Kazakhs and Uigurs.	Control:205 healthy controls;Case:241 Kazakhs and Uigurs coronary patients										
138475		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	11	11q23.1-q23.2	APOC3	116205833	116208997		Zee, R. Y.  et al. 2002	12082592				Similar to Apolipoprotein C-III precursor (Apo-CIII)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDPinfo	345	Hs.73849			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		107720	27892	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
117433		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490		Baroni, M. G.  et al. 2003	12964943				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian	Italy	CDC GDPinfo	348	Hs.515465			BMC medical genetics [electronic resource]. 2003 Sep;4:8	Genetic study of common variants at the Apo E, Apo AI, Apo CIII, Apo B, lipoprotein lipase (LPL) and hepatic lipase (LIPC) genes and coronary artery disease (CAD): variation in LIPC gene associateswith clinical outcomes in patients with established CAD.		107741	25854	2	2003	 variation in LIPC (hepatic lipase) gene associates with clinical outcomes in Italian patients with established CAD. Further studies on the LIPC gene in CAD patients are warranted, in particular looking at the possible influences on clinical outcomes.	Case:102 Italian subjects with established coronary artery:disease;Control:104 unrelated normal subjects										
117409		insulin; lipoproteins; C-peptide; proinsulin	METABOLIC	MET	HIV Infections|Hyperlipidemias|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Fauvel, J.  et al. 2001	11740190				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			AIDS (London, England). 2001 Dec;15(18):2397-406	An interaction between apo C-III variants and protease inhibitors contributes to high triglyceride/low HDL levels in treated HIV patients.		107741	20529	2	2001	 Apo C-III polymorphisms might identify a genetic predisposition to develop dyslipidaemia under PI therapy.	Cohort 60 consecutive male patients attending the HIV follow-up consultation during a 3 month period 	protease inhibitors									
117406		memory disturbance	NEUROLOGICAL	NEUR	Memory Disorders|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Serra-Grabulosa, J. M.  et al. 2003	12736801				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neurogenetics. 2003 Apr;4(3):141-6	Apolipoproteins E and C1 and brain morphology in memory impaired elders.		107741	20526	2	2003	Our results suggest that the role of the APOC1 polymorphism in brain morphology of the cognitively impaired elderly should be examined in further studies.	Cohort 50 subjects with age-associated memory impairment 										
117396		nephropathy in other diseases	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490			16152798				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Genetika. 2005 Jul;41(7):931-7	[Polymorphic gene markers of lipid metabolism are associated with diabetic nephropathy in patients with type 1 diabetes mellitus]		107741	20516	2	2005												
117379		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Casas, J. P.  et al. 2004	15534175				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		107741	20499	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
117370		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Zhang, P.  et al. 2004	15468911				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese		CDC GDPinfo	348	Hs.515465			Yi chuan xue bao. 2004 Jan;31(1):6-Jan	Neither the tumor necrosis factor alpha-308 A/G polymorphism nor the alpha2-macroglobulin polymorphism was associated with late-onset Alzheimer's disease in the Chinese population.		107741	20490	2	2004	Our data showed that the APOE epsilon4 allele frequency in AD was significantly higher than that in the normal controls (chi2 = 11.66, P < 0.01) neither the frequencies of genotypes nor alleles of the TNF alpha-308 A/G and A2M polymorphisms were significantly different between AD and controls,suggesting the two polymorphisms were not risk factors to LOAD in Chinese.	Control:142 normal elderly controls;Case:67 Chinese sporadic late-onset Alzheimer's disease:patients										
117349		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Insulin Resistance	19	19q13.2	APOE	50100878	50104490		Liolitsa, D.  et al. 2002	12185156				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 2002 Sep;73(3):261-6	Genetic variability in the insulin signalling pathway may contribute to the risk of late onset Alzheimer's disease		107741	19062	2	2002	 The results support the hypothesis for a common genetic aetiology predisposing to insulin resistance and AD.	Control age-matched normal subjects;Case:202 patients with late onset AD										
117348		cholesterol, HDL; triglycerides; cholesterol, total	METABOLIC	MET	Hypertriglyceridemia	19	19q13.2	APOE	50100878	50104490		Brisson, D.  et al. 2002	12042669				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Pharmacogenetics. 2002 Jun;12(4):313-20	Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients.		107741	19025	2	2002	This study suggests that frequent genetic variations in genes encoding proteins involved in TG-rich lipoprotein metabolism could modulate the response to fenofibrate treatment, as defined in clinical guidelines.	Cohort 292 hypertriglyceridemic subjects treated with fenofibrate for 3 months 	fenofibrate									
117344		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	19	19q13.2	APOE	50100878	50104490		Kornman, K. S.  et al. 2001	11887471				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		107741	18301	2	2001	Review Article											
117338		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Hayes, A.  et al. 2004	15377701				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Journal of neurology, neurosurgery, and psychiatry. 2004 Oct;75(10):1475-7	A polymorphic variation in the interleukin 1A gene increases brain microglial cell activity in Alzheimer's disease.		107741	17720	2	2004	 Polymorphisms within IL-1A influence the degree of brain microglial cell activation, especially in bearers of APOE epsilon4 allele, reinforcing the importance of neuroinflammatory processes in the pathogenesis of AD, and supporting the rationale for treating the disease with inflammation modulating drugs.	Cohort 68 patients with necropsy confirmed Alzheimer's disease 		APOE	epsilon4 allele	IL-1A	TT			Y		Alzheimer's disease
117312	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Zambenedetti, P.  et al. 2003	14757931				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDPinfo	348	Hs.515465			J Alzheimers Dis    2003    5    423-7	Transferrin C2 variant does confer a risk for Alzheimer's disease in caucasians.		107741	15301	2	2003	These results suggest that apoE and transferrin may be part of a complex mechanism in the pathogenesis of Alzheimer's disease.	Case Alzheimer's disease patients;Control normal controls										
117289		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Hernandez-Charro, B.  et al. 2004	15482730				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Med Clin (Barc). 2004 Sep;123(7):251-4	[ACT/AA polymorphism could duplicate the APOE*epsilon4-associated Alzheimer's disease risk.]		107741	13609	2	2004	 APOE*epsilon4 heterozygous and homozygous carriers have a 3 and 9 times higher risk, respectively, of developing AD. We could not demonstrate an effect of ACT polymorphisms as a independent risk factor for this disease; however, the ACT/AA genotype seems to act as an additional susceptibility factor, duplicating the APOE*epsilon4-associated AD risk.	Control:188 control individuals 70-71 years of age;Case:98 patients with late-onset Alzheimer's disease										
117273	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	19	19q13.2	APOE	50100878	50104490		Ranjith, N.  et al. 2004	15258620				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	South African	South Africa|India	CDC GDPinfo	348	Hs.515465			Cardiovascular journal of South Africa. 2004 May-Jun;15(3):111-7	Lp(a) and apoE polymorphisms in young South African Indians with myocardial infarction.		107741	12209	2	2004	In conclusion, the apoE3/E4 genotype is strongly associated with the incidence of myocardial infarction in young South African Indians. This genotype also adversely affects LDL and HDL cholesterol levels, both of which contribute to premature atherosclerosis. In contrast, the Lp(a) pentanucleotide repeat polymorphism does not appear to have any aetiological role in MI in this population.	Case:195 young South African Indian patients (;Control:300/107 healthy age-matched control subjects drawn from the same community and 107 unaffected siblings (18-45:years)										
117254	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Beyer, K.  et al. 2001	11711204				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Neuroscience letters. 2001 Nov;315(2-Jan):17-20	Alzheimer's disease and the cystatin C gene polymorphism: an association study		107741	9527	2	2001	The CST3-A allele was seen to be an accumulation risk factor for early-onset AD. Furthermore, a synergistic association among the CST3-A allele, APOE4 and AD was found in AD patients whose ages were between 60 and 74 years.	Control:155 controls not otherwise specified in abstract;Case:159 Alzheimer's disease patients		CST3	A allele	APOE4				Y	Age (60 and 74 years)	Alzheimer's disease
117223	Y	cholesterol, HDL; cholesterol, LDL; cholesterol, total; apoA1; apoE; apoB-100	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Xiang, W.  et al. 1999	12016791				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Hunan yi ke da xue xue bao. 1999 ;24(3):232-6	[Apolipoprotein E polymorphism and plasma lipid, lipoprotein, apolipoprotein levels in 291 children of Changsha]		107741	8776	2	1999	These results suggest that ApoE polymorphisms could affect plasma lipids metabolism in children.	Cohort 291 children Changsha 										
117101		diastolic blood pressure	CARDIOVASCULAR	CARD	Hypertension	19	19q13.2	APOE	50100878	50104490		Katsuya T et al. 2000	10821138	(A -491T)		promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Japanese	Japan	KGB	348	Hs.515465			Hypertension research. 2000 May;23(3):271-5	Association of polymorphism in the promoter region of the apolipoprotein E gene with diastolic blood pressure in normotensive Japanese.		107741	730	1	2000												
143063	Y	myocardial infarction	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction	19	19q13.2	APOE	50100878	50104490	0.000006		16519597	epsilon 2, OR=0.30, p=0.000006; epsilon 4, OR=1.8, p=0.006		coding sequence	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Chinese	Hong Kong	Larry Baum	348	Hs.515465			Clinical chemistry and laboratory medicine. 2006 ;44(3):274-81	Associations of apolipoprotein E exon 4 and lipoprotein lipase S447X polymorphisms with acute ischemic stroke and myocardial infarction		107741				 This is the first report of an association of vascular disease with an interaction of APOE exon 4 and LPL S447X genotypes. Therefore, APOE genotypes and LPL S447X interactions with apoE, sex, and smoking may affect the risk of myocardial infarction and ischemic stroke.	231 cases, 311 controls										
117469		Alzheimer's Disease	NEUROLOGICAL	NEUR		21	21q21.2	APP	26174731	26465003		Athan, E. S.  et al. 2002	12433268				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDPinfo	351	Hs.642685			Archives of neurology. 2002 Nov;59(11):1793-9	Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequenciesin Alzheimer disease		104760	20539	2	2002	 The -9G/C and +37G/C APP promoter polymorphisms are unlikely to contribute strongly to AD susceptibility or to cause major differences in APP expression, but the +37C allele warrants further study for association with AD in larger population samples.	Control elderly controls;Case:1013 people of white, African American, or Caribbean Hispanic ethnicity, 65 years and older New York City, NY, USA										
129410	Y	PSA mRNA expression	CANCER	CAN	Breast Neoplasms	19	19q13.41	KLK3	56049982	56055832		Yang QF et al. 2000	11185746				kallikrein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			KGB	354	Hs.171995			Journal of human genetics. 2000 ;45(6):363-6	Novel polymorphisms of prostate-specific antigen (PSA) gene associated with PSA mRNA expression in breast cancer.		176820	849	1	2000												
123086	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Zhang, X.  et al. 2005	15937082				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDPinfo	355	Hs.244139			Journal of medical genetics. 2005 Jun;42(6):479-84	Functional polymorphisms in cell death pathway genes FAS and FASL contribute to risk of lung cancer.		134637	10567	2	2005	 These results are consistent with our initial findings in oesophageal cancer and further support the hypothesis that the FAS and FASL triggered apoptosis pathway plays an important role in human carcinogenesis.	Case:1,000 lung cancer patients;Control:1,270:controls		FAS	1377AA	FASL	844CC			Y	smoking tobacoo	lung cancer
117553		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Modugno, F.  et al. 2001	11595700				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDPinfo	367	Hs.496240			Clinical cancer research. 2001 Oct;7(10):3092-6	Allelic variants of aromatase and the androgen and estrogen receptors: toward a multigenic model ofprostate cancer risk.		313700	15991	2	2001	 Estrogen and aromatase may play a role in prostate cancer. A multigenic model of prostate cancer susceptibility is also supported.	Control:241 Caucasian male controls;Case:88 Caucasian prostate cancer patients										
117551	N	breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Dagan, E.  et al. 2002	12404104				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Jewish	Israel	CDC GDPinfo	367	Hs.496240			European journal of human genetics. 2002 Nov;10(11):724-8	Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers:association with breast/ovarian cancer phenotype.		313700	15485	2	2002	There is no conclusive evidence of association between AR CAG repeat size and breast or ovarian cancer risk in Jewish BRCA1/2 mutation carriers. A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded.	Cohort 227 BRCA1/2 mutation carriers 								N		
138484	Y	ataxia-telangiectasia	OTHER	OTH	Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		McConville CM et al. 1996	8755918				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Great Britain	KGB	472	Hs.435561			American journal of human genetics. 1996 Aug;59(2):320-30	Mutations associated with variant phenotypes in ataxia-telangiectasia.		607585	7406	1	1996												
138494	N	rectal cancer	CANCER	CAN	Rectal Neoplasms|Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Kristensen AT 2004	12827413				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3		Norway	KGB	472	Hs.435561			International journal of colorectal disease. 2004 Jan;19(1):49-54	DNA variants in the ATM gene are not associated with sporadic rectal cancer in a Norwegian population-based study.		607585	7416	1	2004	 No associations were found between the IVS38-8 T/C, 5557 G/A and 5558 A/T polymorphisms and microhaplotypes in the ATM gene with respect to sporadic rectal cancer.											
117610		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Olivarez, L.  et al. 2001	11806854				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2		United States	CDC GDPinfo	540	Hs.492280			Annals of human genetics. 2001 Sep;65(Pt 5):459-63	Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysisapproach.		606882	15368	2	2001	These data translate into a Wilson's disease frequency of about one in 55000 births. The 95% confidence interval is rather broad, ranging from about one in 18000 to one in 700000 births, but will be reduced as more data are added.	Cohort data from 4 studies 										
118569	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms	11	11q13	CCND1	69165053	69178423		Catarino, R.  et al. 2005	15949570				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDPinfo	595	Hs.523852			Cancer genetics and cytogenetics. 2005 Jul;160(1):49-54	Increased risk of cervical cancer associated with cyclin D1 gene A870G polymorphism.		168461	9128	2	2005												
117742		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Translocation, Genetic	18	18q21.33	BCL2	58941558	59137637		Lee JT et al. 1989	2509518				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			KGB	596	Hs.150749			The Journal of clinical investigation. 1989 Nov;84(5):1454-9	Sequential bcl-2 and c-myc oncogene rearrangements associated with the clinical transformation of non-Hodgkin's lymphoma.		151430	952	1	1989												
136958		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16p13.1	TNFRSF17	11966464	11969426		Barton, A.  et al. 2002	11981324				Tumor necrosis factor receptor superfamily, member 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001192.2			CDC GDPinfo	608	Hs.2556			Current opinion in rheumatology. 2002 May;14(3):260-9	Genetic approaches to the investigation of rheumatoid arthritis.		109545	28599	2	2002	Review article											
138534		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Nanko S 2003	12837526				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			KGB	627	Hs.502182			Schizophrenia research. 2003 Aug;62(3):281-3	Brain-derived neurotrophic factor gene and schizophrenia: polymorphism screening and association analysis.		113505	7539	1	2003												
138582	Y	schizophrenia; psychoses	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872			16389585	val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDPinfo	627	Hs.502182			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Mar;141(2):135-8	The Val66Met polymorphism of the brain-derived neurotrophic factor gene is associated with risk for psychosis: Evidence from a family-basedassociation study		113505	8933	2	2006												
117827		mutagen sensitivity	OTHER	OTH	Chromosome Aberrations	17	17q11.2	BLMH	25599348	25643200		Tuimala, J.  et al. 2002	12082022				Bleomycin hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000386.2		Hungary	CDC GDPinfo	642	Hs.371914			Carcinogenesis. 2002 Jun;23(6):1003-8	Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagensensitivity.		602403	12647	2	2002	Although based on relatively few individuals, our results suggest that bleomycin sensitivity is partially explained by genetic polymorphisms affecting DNA repair (XRCC1) and in vitro metabolism of bleomycin (BLHX).	Cohort 80 healthy Caucasians 	smoking (tobacco)									
117904	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Hu, Z.  et al. 2004	15777502				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Chinese	China	CDC GDPinfo	672	Hs.194143			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2004 Nov;26(11):657-9	[Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.]		113705	15500	2	2004	 The incidence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that reported from western countries, but the incidence of mutations in Chinese breast cancer patients with affected relatives is comparatively low.	Cohort 41 Chinse early onset breast cancer cases 										
117857	Y	tumor progression	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Chromosome Deletion|Disease Progression	17	17q21	BRCA1	38449839	38530994		Tirkkonen M et al. 1997	9102202				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			KGB	672	Hs.194143			Cancer research. 1997 Apr;57(7):1222-7	Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations.		113705	995	1	1997												
138619		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Lymphatic Metastasis	7	7q34	BRAF	140080751	140271033		Liu, R. T.  et al. 2005	16181240	V600E			V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDPinfo	673	Hs.550061			Clinical endocrinology. 2005 Oct;63(4):461-6	No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan.		164757	15469	2	2005	 BRAFV600E mutation is the most prevalent oncogene in PTCs in Taiwan. Our data did not suggest that BRAFV600E mutation could be a potentially useful marker of prognosis in patients with papillary carcinomas in the population studied.											
117934		breast cancer; ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Hughes, C.  et al. 2002	11807889				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDPinfo	675	Hs.34012			American journal of medical genetics. 2002 Jan;107(2):143-50	All in the family: evaluation of the process andcontent of sisters' communication about BRCA1 and BRCA2 genetic test results.		600185	20606	2	2002	The results of this study suggest that probands are likely to quickly communicate their BRCA1/2 test results to relatives and that although needs for social support may motivate family communication, emotionally distant relationships may be a barrier to communication with relatives.	Cohort 81 sisters of 43 women who were the first family member to have genetic testing 										
117982		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13	C1R	7057769	7136184		Luedecking-Zimmer, E.  et al. 2003	12555245				Complement component 1, r subcomponent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001733			CDC GDPinfo	715	Hs.524224			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Feb;117(1):114-7	Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.		216950	12227	2	2003	Our data suggest that the LBP-1c/CP2/LSF polymorphism may have a moderate protective effect against the risk of AD.	Control:523:controls;Case:564 Alzheimer's disease cases										
117990		systemic lupus erythematosus	OTHER	OTH	Lupus Erythematosus, Systemic	19	19p13.3-p13.2	C3	6628845	6671662		Einav S 2002	11801636				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			Y Wang	718	Hs.529053			Journal of immunology (Baltimore, Md :  1950). 2002 Feb;168(3):1036-41	Complement C4 is protective for lupus disease independent of C3.		120700	1029	1	2002												
117987	Y	cirrhosis	OTHER	OTH	Liver Cirrhosis	19	19p13.3-p13.2	C3	6628845	6671662		Fathman CG et al. 1985	4029969				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1		India	KGB	718	Hs.529053			Human heredity. 1985 ;35(4):268-70	Association between C3 complement types and Indian childhood cirrhosis.		120700	1026	1	1985												
118007		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	19	19q13.3-q13.4	C5R1	52504943	52517167		Hasegawa, K.  et al. 2004	15278436				Complement component 5 receptor 1 (C5a ligand)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001736		Japan	CDC GDPinfo	728	Hs.2161			Human genetics. 2004 Sep;115(4):295-301	Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma		113995	25868	2	2004	These results suggest that the C3 and C5 pathways of the complement system play important roles in the pathogenesis of BA and that polymorphisms of these genes affect susceptibility to BA.	Control:controls;Case Japanese adult and childhood bronchial asthma:patients										
118017	Y	deficiencies of C6	OTHER	OTH		5	5p13	C6	41178092	41297297		Fernie BA et al. 1995	7625765				Complement component 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000065.1			KGB	730	Hs.481992			Annals of human genetics. 1995 Apr;59(Pt 2):183-95	Complement component C6 and C7 haplotypes associated with deficiencies of C6.		217070	1037	1	1995												
118061	Y	arthritis, juvenile	IMMUNE	IMM	Osteoporosis|Arthritis, Juvenile Rheumatoid	7	7q21.3	CALCR	92891734	93041972		Masi, L.  et al. 2002	12375338				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDPinfo	799	Hs.489127			The Journal of rheumatology. 2002 Oct;29(10):2225-31	Association of low bone mass with vitamin d receptor gene and calcitonin receptor gene polymorphisms in juvenile idiopathic arthritis		114131	14706	2	2002	 Our data suggest that patients with particular VDR and CTR genotypes may be at higher risk to lose bone mass.	Case:50 patients with juvenile idiopathic arthritis;Control:80 matched controls		VDR and CTR genotypes may be at higher risk to lose .	CTR	TT	VDR	ff		Y	calcium and vitamin D	"arthritis, juvenile"
118057		bone density; osteopenia	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	7	7q21.3	CALCR	92891734	93041972			16363366				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2	Polish		CDC GDPinfo	799	Hs.489127			Ginekologia polska. 2005 Aug;76(8):612-8	[Genetic polymorphism of the calcitonin receptor gene and bone mineral density in Polish population of postmenopausal women]		114131	8971	2	2005	 Our results suggest possible connection of the AluI polymorphism of the CTR gene with osteopenia and osteoporosis development. To confirm this tendency further investigations in the large number population are necessary.											
138642	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Genetic Predisposition to Disease	14	14q24-q31	CALM1	89933125	89944363		Mototani, H.  et al. 2005	15746150			promoter	Calmodulin 1 (phosphorylase kinase, delta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006888.3	Japanese	Japan	CDC GDPinfo	801	Hs.282410			Human molecular genetics. 2005 Apr;14(8):1009-17	A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese.		114180	8972	2	2005	These results suggest that the transcriptional level of CALM1 is associated with susceptibility for hip OA through modulation of chondrogenic activity. Our findings reveal the CALM1-mediated signaling pathway in chondrocytes as a novel potential target for treatment of OA.	Case osteoarthritis cases from two independent case-control populations;Control controls from two independent case-control:populations										
138649	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	5	5q15-q21	CAST	96023532	96141055		Nakayama, J.  et al. 2002	11849768				Calpastatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042440.1		Japan	CDC GDPinfo	831	Hs.440961			Neuroscience letters. 2002 Mar;320(2-Jan):77-80	Mutation analysis of the calpastatin gene (CAST) in patients with Alzheimer's disease.		114090	15590	2	2002	genomic variations of CAST are not likely to be substantially involved in the etiology of AD.	Case:101 Japanese patients with Alzheimers disease;Control:90 controls not otherwise specified in abstract										
118234	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous|Genetic Predisposition to Disease	3	3q21-q24	CASR	123385219	123488032		Cetani, F.  et al. 2003	12773131				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Italian	Italy	CDC GDPinfo	846	Hs.435615			European journal of endocrinology. 2003 Jun;148(6):603-7	Calcium-sensing receptor gene polymorphism is not associated with bone mineral density in Italian postmenopausal women		601199	9008	2	2003	 Our data do not support a role of A986S CaR polymorphism in BMD and in the prevalence of fragility fractures in Italian postmenopausal women.	Control:164 Italian postmenopausal women wihout fragility:fracture;Case:55 Italian postmenopausal women with fragility:fracture										
118250	Y	vitiligo	OTHER	OTH	Vitiligo|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183	P=0.0024	Casp CB et al. 2002	11837458	T/C exon 9 (Asp-389)	silent	coding sequence	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Caucasian		KGB	847	Hs.502302			Pigment cell research. 2002 Feb;15(1):62-6	Genetic association of the catalase gene (CAT) with vitiligo susceptibility.		115500	1053	1	2002	The CAT gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.	Case Caucasian vitiligo patients;Control Caucasian no autoimmunity										
118281	Y	plasma levels of homocysteine	METABOLIC	MET		21	21q22.3	CBS	43346369	43369493		De Stefano V et al. 1998	10363126				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			KGB	875	Hs.533013			Annals of human genetics. 1998 Nov;62(Pt 6):481-90	Linkage disequilibrium at the cystathionine beta synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine. The Ears II Group. European Atherosclerosis Research Study.		236200	1066	1	1998												
118349	Y	schizophrenia	PSYCH	PSY	Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Zhang XY et al. 2000	10889525				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			Molecular psychiatry. 2000 May;5(3):239-40	The CCK-A receptor gene possibly associated with positive symptoms of schizophrenia.		118444	1089	1	2000												
118347	Y	schizophrenia	PSYCH	PSY	Hallucinations|Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Wei J et al. 1999	10572328				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			KGB	886	Hs.129			European psychiatry. 1999 Apr;14(2):67-70	The CCK-A receptor gene possibly associated with auditory hallucinations in schizophrenia.		118444	1087	1	1999												
118587		body mass; diabetes, type 2; leukemia; breast cancer; glucose; cytogenetic studies; birth weight;	CANCER	CAN		5	5q13.3-q14	CCNH	86723066	86744592		Ford, B. N.  et al. 2000	11062157				Cyclin H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001239.2			CDC GDPinfo	902	Hs.292524			Carcinogenesis. 2000 Nov;21(11):1977-81	Identification of single nucleotide polymorphisms in human DNA repair genes.		601953	10349	2	2000	Using this approach, possible associations of sequence variation, and hence of variation in DNA repair, with disease risk can be assessed.	Cohort 142 healthy individuals 										
118938	Y	CD3 epsilon locus on chromosome 11	OTHER	OTH	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q23	CD3E	117680661	117692100		Wong S et al. 1991	1671006				CD3E antigen, epsilon polypeptide (TiT3 complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000733.2			KGB	916	Hs.3003			Clinical and experimental immunology. 1991 Jan;83(1):69-73	Susceptibility to type I diabetes in women is associated with the CD3 epsilon locus on chromosome 11.		186830	1102	1	1991												
118864	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD		5	5q22-q32	CD14	139991500	139993439		Li, Y.  et al. 2005	16331574	C-159T		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):687-90	[Association of C-159T polymorphism in promoter region of CD14 and coronary heart disease.]		158120	9302	2	2005	 The T allele of the C-159T polymorphism of CD14 gene may be a risk factor for myocardial infarction.											
118857	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Klausz, G.  et al. 2005	16165702				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDPinfo	929	Hs.163867			Scandinavian journal of gastroenterology. 2005 Oct;40(10):1197-204	Polymorphism of the heat-shock protein gene Hsp70-2, but not polymorphisms of the IL-10 and CD14 genes, is associated with the outcome of Crohn's disease.		158120	9294	2	2005	 Allele A of the Hsp70-2 gene may be associated with a less severe form of CD, suggesting the clinical value of the genotype assessment. The genetic determination of the defense mechanisms in CD appears to be associated with the polymorphism of the Hsp70-2 gene rather than that of the CD14 or IL-10 genes.											
118914	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Teutsch, S. M.  et al. 2004	14975605				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1	Australian	Australia	CDC GDPinfo	940	Hs.591629			Journal of neuroimmunology. 2004 Mar;148(2-Jan):218-30	Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients.		186760	9321	2	2004	Our results suggest that the CTLA-4 +49 alone is not associated with overall susceptibility to MS, but may be important in clinical subsets of patients and/or may interact epistatically with other gene polymorphisms.	Cohort multiple sclerosis patients 										
119009	N	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Lei, H.  et al. 2002	11857408			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDPinfo	999	Hs.461086			International journal of cancer. Journal international du cancer. 2002 Mar;98(2):199-204	CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk.		192090	15705	2	2002	These results do not support CDH1 as a prominent low-penetrance cancer susceptibility gene, but indicate that CDH1 mutations contribute to the progression of both lobular and ductal tumors.	Case:1152 breast cancer patients;Control:696 controls not otherwise specified in abstract										
138657	Y	neurofibromatosis 1	CANCER	CAN	Neurofibroma|Neurofibromatosis 1|Cell Transformation, Neoplastic	9	9p21	CDKN2A	21957750	21965038		Nielsen GP et al. 1999	10595918				Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000077.3			KGB	1029	Hs.512599			The American journal of pathology. 1999 Dec;155(6):1879-84	Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivation.		600160	6909	1	1999												
119125		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Falchi, A.  et al. 2005	16248996				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Corsica	France	CDC GDPinfo	1071	Hs.89538			Experimental and molecular pathology. 2005 Dec;79(3):210-3	Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).		118470	20779	2	2005												
119081		macro- and microangiopathy	OTHER	OTH	Diabetic Angiopathies|Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Ukkola O et al. 1994	7820935				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			KGB	1071	Hs.89538			Clinical genetics. 1994 Sep;46(3):217-27	DNA polymorphisms at the locus for human cholesteryl ester transfer protein (CETP) are associated with macro- and microangiopathy in non-insulin-dependent diabetes mellitus.		118470	1213	1	1994												
119221		pancreatitis	IMMUNE	IMM	Pancreatitis|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Witt, H.   2001	12120220				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Pancreatology. 2001 ;1(5):432-8	Gene mutations in children with chronic pancreatitis.		602421	19102	2	2001	In conclusion, our data suggest that CP may be inherited in a dominant, recessive or multigenetic manner as a result of mutations in the above-mentioned or as yet unidentified genes. This challenges the concept of idiopathic CP as a nongenetic disorder and the differentiation between hereditary and idiopathic CP. Therefore, we propose to classify CP as either 'primary CP' (with or without a family history) or 'secondary CP' caused by toxic, metabolic or other factors.	Cohort 164 unrelated children and adolescents with idiopathic chronic pancreatitis 										
119201	Y	pancreatitis	IMMUNE	IMM	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Maire, F.  et al. 2003	12759680				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Gastroenterol Clin Biol. 2003 Apr;27(4):398-402	[Frequency of CFTR gene mutations in idiopathic pancreatitis]		602421	15765	2	2003	 One-quarter of all patients and one-third of those < or =35 years with idiopathic pancreatitis have at least one mutation of the CFTR gene. The presence of a CFTR mutation appears to predict the development of pancreatitis at an earlier age.	Cohort 64 patients with unexplained chronic or recurrent acute pancreatitis from a French Gastroenterology department during specified time period Apr, 1999-Dec, 2001 										
119199		pancreatitis	IMMUNE	IMM	Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Gaia, E.  et al. 2002	12452372				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDPinfo	1080	Hs.489786			Digestive diseases and sciences. 2002 Nov;47(11):2416-21	Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.		602421	15763	2	2002	In conclusions, mutations in the genes investigated are involved in causing idiopathic pancreatitis. Such mutations have no connection either with the age at onset or the clinical course of the disease.	Cohort patients with idiopathic and alcoholic chronic pancreatitis 										
138703		asthma	IMMUNE	IMM	Asthma	1	1q41-q44	CHRM3	237616487	238139340		Dewar, J. C.  et al. 2003	12724032				Cholinergic receptor, muscarinic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000740.2		Great Britain	CDC GDPinfo	1131	Hs.7138			The Journal of pharmacy and pharmacology. 2003 Mar;55(3):279-89	Personalised prescribing for asthma--is pharmacogenetics the answer?		118494	27390	2	2003	Review article											
119314		oxygen consumption	OTHER	OTH	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2-q13.3	CKM	50501510	50517974		Defoor, J.  et al. 2005	16079652				Creatine kinase, muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001824.2			CDC GDPinfo	1158	Hs.334347			European journal of cardiovascular prevention and rehabilitation. 2005 Aug;12(4):415-7	The caregene study: muscle-specific creatine kinasegene and aerobic power in coronary artery disease.		123310	15825	2	2005			physical activity									
119318	Y	myotonia	OTHER	OTH	Myotonia	7	7q32-qter	CLCN1	142723340	142759219		Grunnet M 2003	14639587				Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000083.1			KGB	1180	Hs.121483			Muscle & nerve. 2003 Dec;28(6):722-32	Characterization of two new dominant ClC-1 channel mutations associated with myotonia.		118425	1263	1	2003												
138348		Batten disease	NEUROLOGICAL	NEUR	Neuronal Ceroid-Lipofuscinosis	16	16p12.1	CLN3	28385474	28411124		Mitchison HM et al. 1994	7806237				Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000086.1			KGB	1201	Hs.628393			Genomics. 1994 Jul;22(2):465-8	Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.		607042	6900	1	1994												
119363	Y	atherosclerosis	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Ortlepp JR et al. 2001	11696688				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			KGB	1215	Hs.135626			Coronary artery disease. 2001 Sep;12(6):493-7	A chymase gene variant is associated with atherosclerosis in venous coronary artery bypass grafts.		118938	1282	1	2001	 The CMA allele G is a genetic risk factor for atherosclerosis in venous coronary artery bypass grafts. Its importance has to be shown in further studies. Other polymorphisms of the renin-angiotensin-aldosterone system do not seem to play a role in bypass degeneration.	Cohort 101 patients who had follow-up coronary angiography due to symptoms 88 +/- 52 months after coronary artery bypass graft surgery										
138734		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	3	3p21	CCR2	46370363	46377429		Szalai C 2004	10400139				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			Y Wang	1231	Hs.644637			Pediatric research. 1999 Jul;46(1):82-4	Chemokine receptor CCR2 and CCR5 polymorphisms in children with insulin-dependent diabetes mellitus.		601267	6899	1	2004												
138744	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Bayley, J. P.  et al. 2003	12889997				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			Tissue antigens. 2003 Aug;62(2):170-4	Association between polymorphisms in the human chemokine receptor genes CCR2 and CX3CR1 and rheumatoid arthritis.		601267	9143	2	2003	We found no evidence for a significant independent role for the CCR2 and CX3CR1 variants in the susceptibility to or severity of rheumatoid arthritis.	Cohort 282/101 consecutive rheumatoid arthritis patients from a rheumatology outpatient clinic (n=282) and female rheumatoid arthritis patients (n=101) 										
138749	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Brouwer, K. C.  et al. 2005	15929697				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3		Kenya	CDC GDPinfo	1231	Hs.644637			AIDS research and human retroviruses. 2005 May;21(5):358-62	Effect of CCR2 chemokine receptor polymorphism on HIV type 1 mother-to-child transmission and child survival in Western Kenya.		601267	9149	2	2005	Our results do not indicate an effect of CCR2-64I on perinatal HIV transmission and survival in Kenyan children.	Cohort 445 HIV-seropositive mothers and teir infants western Kenya 										
138774	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Aguilar, F.  et al. 2003	12913933				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Spanish	Spain	CDC GDPinfo	1231	Hs.644637			The Journal of rheumatology. 2003 Aug;30(8):1770-4	Chemokine receptor CCR2/CCR5 polymorphism in Spanish patients with systemic lupus erythematosus.		601267	9188	2	2003	 Polymorphisms of CCR2 and CCR5 do not seem to be involved in susceptibility to SLE, although a slight contribution of the CCR5 polymorphism in the production of anti-dsDNA autoantibodies, in the development of lupus nephritis, and in the outcome of the disease could be postulated.	Control:194 ethnically matched controls;Case:276 patients with systemic lupus erythematosus										
138786	N	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	3	3p21	CCR2	46370363	46377429		Mettimano, M.  et al. 2005	16196460				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDPinfo	1231	Hs.644637			British journal of biomedical science. 2005 ;62(3):133-6	Lack of association of CCR gene polymorphisms and left ventricular hypertrophy in essential hypertension.		601267	9215	2	2005												
118625	Y	HIV-1 disease	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Mummidi S et al. 1998	9662369				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			KGB	1234	Hs.450802			Nature medicine. 1998 Jul;4(7):786-93	Genealogy of the CCR5 locus and chemokine system gene variants associated with altered rates of HIV-1 disease progression.		601373	1316	1	1998												
119382	N	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q14-q15	CNR1	88906303	88932281	n	Li T et al. 2000	10822338				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	Chinese	China	KGB	1268	Hs.75110			Molecular psychiatry. 2000 Mar;5(2):128-30	No association between (AAT)n repeats in the cannabinoid receptor gene (CNR1) and heroin abuse in a Chinese population.		114610	1333	1	2000												
138836		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q12.2	CNTF	58146720	58149778		Sakai T et al. 1997	9247976				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			KGB	1270	Hs.632114			Psychiatry research. 1997 Jun;71(1):10-Jul	Schizophrenia and the ciliary neurotrophic factor (CNTF) gene: no evidence for association.		118945	1342	1	1997												
138840	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q12.2	CNTF	58146720	58149778		Lin, P. Y.  et al. 2004	15474906				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDPinfo	1270	Hs.632114			Schizophrenia research. 2004 Dec;71(3-Feb):353-60	Meta-analyses of the association between genetic polymorphisms of neurotrophic factors and schizophrenia.		118945	12977	2	2004	These results suggested that the variations at the NT3 and the CNTF genes do not influence the schizophrenia risk, but a role in the susceptibility of subgroups of the patients cannot be excluded.	Cohort 1,938 individuals from 8 studies Cohort 2,393 individuals from 9 studies 										
119460		hearing loss/deafness; osteogenesis imperfecta	OTHER	OTH	Osteogenesis Imperfecta|Hearing Loss	17	17q21.3-q22.1	COL1A1	45616455	45633999		Hartikka, H.  et al. 2004	15241796				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDPinfo	1277	Hs.172928			Human mutation. 2004 Aug;24(2):147-54	Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.		120150	15857	2	2004	These results suggest that the basis of hearing loss in OI is complex, and it is a result of multifactorial, still unknown genetic effects.	Cohort 54 Finnish osteogenesis imperfecta patients with previously diagnosed hearing loss or age 35 years or more 										
119453	N	bone density	METABOLIC	MET	Body Weight	17	17q21.3-q22.1	COL1A1	45616455	45633999		Wynne, F.  et al. 2002	12073153				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Irish	Ireland	CDC GDPinfo	1277	Hs.172928			Calcified tissue international. 2002 Jul;71(1):26-35	Investigation of the genetic influence of the OPG, VDR (Fok1), and COLIA1 Sp1 polymorphisms on BMD in the Irish population.		120150	14703	2	2002	We found no association between alleles of the T950C OPG polymorphism and BMD. Similarly, we have found a lack of association between the VDR (fok1) polymorphism or COLIA1 Sp1 polymorphism and low BMD in either postmenopausal or premenopausal women in this population.	Cohort 130 premenopausal women aged 46.30 6.50 (mean SD) Ireland Cohort 381 postmenopausal women aged 61.26 8.50 (mean SD) Ireland 										
119504		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	2	2q31	COL3A1	189547343	189585717		Ogata, T.  et al. 2005	15944607				Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000090.2			CDC GDPinfo	1281	Hs.443625			Journal of vascular surgery. 2005 Jun;41(6):1036-42	Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.		120180	14268	2	2005	 These findings suggest that genetic variations in TIMP1, TIMP3, MMP10, and ELN genes may contribute to the pathogenesis of AAAs. Further work is needed to confirm the findings in an independent set of samples and to study the functional role of these variants in AAA. It is noteworthy that contrary to a previous study, we did not find an association between the MMP9 (nt-1562) polymorphism and AAA, suggesting genetic heterogeneity of the disease. CLINICAL RELEVANCE: Abdominal aortic aneurysms (AAAs) are an important cardiovascular disease, but the genetic and environmental risk factors, which contribute to individual's risk to develop an aneurysm, are poorly understood. Histologically, AAAs are characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells. We hypothesized that genes involved in these events could harbor changes that make individuals more susceptible to developing aneurysms. This study identified significant genetic associations between DNA sequence changes in tissue inhibitor of metalloproteinase 1 (TIMP1), TIMP3, matrix metalloproteinase 10 (MMP10) and elastin (ELN) genes, and AAA. The results will require confirmation using an independent set of samples. After replication it is possible that these sequence changes in combination with other risk factors could be used in the future to identify individuals who are at increased risk for developing an AAA.											
138852	Y	psychiatric manifestations of velo-cardio-facial syndrome	CARDIOVASCULAR	CARD	Cleft Palate|Learning Disorders|Heart Defects, Congenital|Abnormalities, Multiple|Syndrome	22	22q11.21-q11.23	COMT	18309308	18336530		Lachman HM et al. 1996	8886163				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 1996 Sep;67(5):468-72	Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.		116790	6933	1	1996												
138854		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Chen CH et al. 1996	8950414				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			KGB	1312	Hs.370408			American journal of medical genetics. 1996 Nov;67(6):556-9	Identification of a BglI polymorphism of catechol-O-methyltransferase (COMT) gene and association study with schizophrenia.		116790	6935	1	1996												
138881	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	22	22q11.21-q11.23	COMT	18309308	18336530	n	Hallikainen T et al. 2000	10898913				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Finland	KGB	1312	Hs.370408			American journal of medical genetics. 2000 Jun;96(3):348-52	Lack of association between the functional variant of the catechol-o-methyltransferase (COMT) gene and early-onset alcoholism associated with severe antisocial behavior.		116790	6962	1	2000												
138916		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Huber, A.  et al. 2005	16202920				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDPinfo	1312	Hs.370408			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		116790	9771	2	2005												
119578		hepatitis C, chronic	INFECTION	INF	Malaria, Cerebral	1	1q32	CR1	205736095	205881733		Thomas, B. N.  et al. 2004	15578041				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3		Africa|Asia, Southeastern	CDC GDPinfo	1378	Hs.334019			Genes and immunity. 2005 Feb;6(1):31-6	A complement receptor-1 polymorphism with high frequency in malaria endemic regions of Asia but not Africa		120620	9492	2	2004	The gene frequency for the haplotype is highest in the malaria-endemic areas of Asia, suggesting that this haplotype may have evolved because it protects from rosetting and CM.	Cohort 194/180/93/304/89/366 Caucasians (n=194), Choctaw Indians (n=180), Chinese-Taiwanese (n=93), Cambodians (n=304), Papua New Guineans (n=89 and Africans (n=366) 										
119575		anemia, malaria related; malaria, cerebral	HEMATOLOGICAL	HEM		1	1q32	CR1	205736095	205881733		Katyal, M.  et al. 2003	14556965				Complement component (3b/4b) receptor 1, including Knops blood group system	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000573.3	Indian		CDC GDPinfo	1378	Hs.334019			Immunology letters. 2003 Oct;89(3-Feb):93-8	Genetic and structural polymorphism of complement receptor 1 in normal Indian subjects		120620	9489	2	2003	We found a higher frequency of HL and AA phenotypes in the study subjects. Our findings are unique as we found that gene frequencies for structural and quantitative polymorphism in our study subjects were a combination of those found in Caucasian and Oriental populations.	Cohort 101 healthy volunteers India 										
139002		major depression	PSYCH	PSY	Depressive Disorder	7	7p15.1	CRHR2	30658724	30706244		Villafuerte SM et al. 2002	11857585				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2			KGB	1395	Hs.546246			American journal of medical genetics. 2002 Mar;114(2):222-6	Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression.		602034	6903	1	2002	The cSNP did show allelic and genotypic association with borderline significance (P[?]=[?]0.04). However, a replication study of this cSNP in a bipolar sample of Belgian origin and a Swedish UP sample did not show significant differences in allele and genotype frequencies.	Case unipola patients:Belgium;Control age-, gender-, and ethnicity-matched controls.										
139003		hepatitis C; liver cancer	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	7	7p15.1	CRHR2	30658724	30706244		Kato, N.  et al. 2005	16175604				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2		Japan	CDC GDPinfo	1395	Hs.546246			Hepatology (Baltimore, Md). 2005 Oct;42(4):846-53	Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C.		602034	9647	2	2005												
119625		thromboembolism, venous; C-reactive protein; pulmonary embolism	CARDIOVASCULAR	CARD	Pulmonary Embolism|Venous Thrombosis|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003			16352308	(+1444C>T)		3' UTR	C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDPinfo	1401	Hs.76452			Atherosclerosis. 2005	C-reactive protein 3' UTR +1444C>T polymorphism in patients with spontaneous venous thromboembolism		123260	9516	2	2005	 Homozygous carriers of the CRP 3' UTR +1444C>T polymorphism do not have a significantly increased risk of VTE. Our data support the assumption that a clinically relevant association between CRP and VTE is missing.											
119606	Y	C-reactive protein (CRP) concentration	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Wuyts B et al. 2002	12113290				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			KGB	1401	Hs.76452			Clinical chemistry and laboratory medicine. 2002 May;40(5):469-74	Novel haptoglobin insertion/deletion polymorphism is associated with the lipid profile and C-reactive protein (CRP) concentration.		123260	1414	1	2002												
119650	Y	sleep disorders	OTHER	OTH	Sleep Disorders	22	22q13.1	CSNK1E	37016642	37124473		Takano, A.  et al. 2004	15187983				Casein kinase 1, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152221.2			CDC GDPinfo	1454	Hs.474833			Neuropsychopharmacology. 2004 Oct;29(10):1901-9	A missense variation in human casein kinase I epsilon gene that induces functional alteration and shows an inverse association with circadian rhythm sleep disorders.		600863	15902	2	2004	These results indicate that the N408 allele in CKIepsilon plays a protective role in the development of DSPS and N-24 through alteration of the enzyme activity.	Case delayed sleep phase syndrome and non-24-h sleep-wake syndrome patients;Control:controls										
119941	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		van Veen, T.  et al. 2003	12864988				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			Journal of neuroimmunology. 2003 Jul;140(2-Jan):188-93	CTLA-4 and CD28 gene polymorphisms in susceptibility, clinical course and progression of multiple sclerosis.		123890	20855	2	2003	These data suggest that the polymorphisms under investigation do not affect the risk of developing MS and have no influence on the course of disease.	Control:181:controls;Case:514 patients with multiple sclerosis										
119869		migraine; migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura	2	2q33	CTLA4	204440753	204446928			16362660	(+49 A/G)			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			The journal of headache and pain. 2005 Sep;6(4):188-90	Cytotoxic T lymphocyte antigen 4 polymorphism 49 (A-->G) and migraine		123890	9618	2	2005												
119863	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Weng, Y. C.  et al. 2005	16081581				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Taiwanese		CDC GDPinfo	1493	Hs.247824			Annals of clinical and laboratory science. 2005 ;35(3):259-64	CT60 single nucleotide polymorphism of the CTLA-4 gene is associated with susceptibility to Graves' disease in the Taiwanese population.		123890	9612	2	2005												
119692	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	n	Ober C 2000	11022011	3`UTR(AT)n		3'untranslated	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Hutterites	South Dakota	KCB	1493	Hs.247824			American journal of human genetics. 2000 Nov;67(5):1154-62			123890	1442	1	2000												
120538		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Huber, A.  et al. 2005	16260521				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Obstetrics and gynecology. 2005 Nov;106(5 Pt 1):1025-31	Ten estrogen-related polymorphisms and endometriosis: a study of multiple gene-geneinteractions.		108330	25914	2	2005	 We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.											
120532		mammographic density	OTHER	OTH	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Maskarinec, G.  et al. 2004	15382051				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			International journal of cancer. Journal international du cancer. 2004 Nov;112(4):683-8	An investigation of mammographic density and gene variants in healthy women.		108330	24225	2	2004	Our data suggest lower mammographic density for women carrying the COMT and CYP1A2 variant alleles than for women carrying the common alleles, though this is the opposite of what is commonly hypothesized from the enzyme function.	Cohort 328 healthy women of different ethnicities 										
120509		hypercholesterolemia; H. pylori infection; coagulation disorder	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Gaikovitch, E. A.  et al. 2003	12879168				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Russian		CDC GDPinfo	1543	Hs.72912			European journal of clinical pharmacology. 2003 Aug;59(4):303-12	Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population.		108330	20933	2	2003	 The overview of allele distribution of important xenobiotic-metabolizing enzymes among a Russian population shows similarity to other Caucasians. The data will be useful for clinical pharmacokinetic investigations and for drug dosage recommendations in the Russian population.	Cohort 290 Russian volunteers Voronezh, Russia 										
120490	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			15176217				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Voprosy onkologii. 2004 ;50(2):165-8	[Allelic distribution of the CYP1A1 in lung cancer patients, middle-aged tissue donors and in elderly people without cancer]		108330	16006	2	2004	The CYP1A1 allele incidence (19%) in patients with squamous lung cancer was significantly higher than in the control cohorts (11%) which is consistent with the leading role of PAH in the etiology of this pathology.	Case:146 lung cancer patients;Control:230 healthy donors										
120470		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Pisani, P.  et al. 2002	11917213				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			European journal of cancer prevention. 2002 Feb;11(1):75-84	Cooking methods, metabolic polymorphisms and colorectal cancer		108330	12645	2	2002	Review article		diet smoking (tobacco)									
120455		lymphoma; Hodgkin's disease	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Sarmanova, J.  et al. 2000	11191882				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Pharmacogenetics. 2000 Dec;10(9):781-8	Genetic polymorphisms of biotransformation enzymes:allele frequencies in the population of the Czech Republic		108330	10940	2	2000	The data obtained may prove to be very useful for epidemiological studies on the influence of genetic polymorphisms of biotransformation enzymes on carcinogenesis or other environment-related diseases.	Cohort 416 Czech individuals 										
120454	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	15	15q22-q24	CYP1A1	72798942	72804930		Bowen, D. T.  et al. 2002	12468438	CYP1A1*2B (Val)			Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Blood. 2003 Apr;101(7):2770-4	CYP1A1*2B (Val) allele is overrepresented in a subgroup of acute myeloid leukemia patients with poor-risk karyotype associated with NRAS mutation, but not associated with FLT3 internal tandem duplication.		108330	10715	2	2002	The CYP1A1*2B allele may predispose to the development of these sub-groups of AML by augmented phase 1 metabolism to highly reactive intermediates of CYP1A1 substrates including polycyclic aromatic hydrocarbons or by generation of oxidative stress as a metabolic by-product.	Cohort 447 AML patients 										
120432	Y	laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Lei, D.  et al. 2002	12772461				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDPinfo	1543	Hs.72912			Zhonghua er bi yan hou ke za zhi. 2002 Oct;37(5):373-6	[Genetic polymorphism of cytochrome P4501A1 and susceptibility to laryngeal carcinoma]		108330	9781	2	2002	 With the carcinogenesis and development of laryngeal cancer, the polymorphism of CYP1A1 gene and smoking exposure together may play an important role. The individuals with genotype C are at especially high risk of laryngeal cancer, which grows with increasing cigarette consumption.	Control:56 healthy controls;Case:62 laryngeal squamous carcinoma	smoking (tobacco)									
120600	Y	liver cancer; liver disease	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Silvestri, L.  et al. 2003	12569554				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			International journal of cancer. Journal international du cancer. 2003 Apr;104(3):310-7	CYP enzyme polymorphisms and susceptibility to HCV-related chronic liver disease and liver cancer		124060	20952	2	2003	Polymorphic variants of CYP genes may contribute to the progression of liver disease and HCC risk in HCV-infected subjects.	Case:87/92/91 chronic hepatitis (n=87), cirrhosis (n=92) and hepatocellular carcinoma (n=91) cases;Control:90/99 asymptomatic carriers (n=90) of chronic hepatitis and blood donors (n=99)	hepatitis C									
120587		schizophrenia	PSYCH	PSY		15	15q24	CYP1A2	72828236	72835994		Popp, J.  et al. 2003	12943470				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Pharmacogenomics. 2003 Sep;4(5):643-6	High-speed genotyping of CYP1A2*1F mutation with fluorescent hybridization probes using the LightCycler.		124060	16015	2	2003	The 100% concordance of both methods showed the reliability of our high-speed genotyping assay, which is suitable for large epidemiological studies or routine clinical use.	Cohort 101 samples 										
120586	Y	ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Goodman, M. T.  et al. 2003	12925300				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Hawaii	CDC GDPinfo	1544	Hs.1361			Nutrition and cancer. 2003 ;46(1):23-9	Association of Caffeine Intake and CYP1A2 Genotype With Ovarian Cancer		124060	16014	2	2003	These preliminary data suggest a modest positive association of caffeine and coffee consumption with the OR for ovarian cancer that may be modified by CYP1A2 genotype and exposures, such as cruciferous vegetable consumption, that influence CYP1A2 expression.	Case:164 epithelial ovarian cancer cases;Control:194:controls	caffeine vegetables									
120580		DNA adducts	OTHER	OTH	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Brockstedt, U.  et al. 2002	11943609				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDPinfo	1544	Hs.1361			Mutation research. 2002 Apr;516(2-Jan):41-7	Analyses of bulky DNA adduct levels in human breast tissue and genetic polymorphisms of cytochromes P450 (CYPs), myeloperoxidase (MPO), quinone oxidoreductase (NQO1), and glutathione S-transferases (GSTs)		124060	10950	2	2002	A significantly higher adduct level was observed for individuals with the A-463 variant in the MPO gene (P=0.008), providing the first observation of an association between a predicted reduced MPO gene transcription and a higher level of DNA adducts. Furthermore, levels of DNA adducts were about 45% higher in individuals with either GSTP1(*)B or GSTP1(*)C variants compared to those homozygous for the wild-type allele. When the MPO and GSTP1 were examined together, individuals with these combined variant genotypes had significantly higher adduct levels than all other genotype combinations (P=0.003).	Cohort human breast tissue 		MPO	A-463	GSTP1	B or C			Y	Environmental carcinogens	High DNA adduct levels in breast cancer
120551	N	m-chlorophenylpiperazine levels; trazodone levels	UNKNOWN	UNK		15	15q24	CYP1A2	72828236	72835994		Mihara, K.  et al. 2001	11393588				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Japanese		CDC GDPinfo	1544	Hs.1361			Pharmacology & toxicology. 2001 May;88(5):267-70	Effects of genetic polymorphism of CYP1A2 inducibility on the steady-state plasma concentrations of trazodone and its active metabolite m-chlorophenylpiperazine in depressed Japanese patients.		124060	9791	2	2001	The present study thus suggests that CYP1A2 polymorphism does not necessarily have predictive value of the steady-state plasma concentration of trazodone or m-chlorophenylpiperazine in most of the smokers treated with trazodone.	Cohort 58 depressed patients receiving trazodone Japan 	smoking (tobacco) trazodone									
120769		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Lerman, C.  et al. 2003	12627466				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDPinfo	1548	Hs.439056			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		122720	24236	2	2003	Review article											
120751	Y	lung cancer; esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	CYP2A6	46041283	46048180		Tan, W.  et al. 2001	11241319				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Chinese	China	CDC GDPinfo	1548	Hs.439056			International journal of cancer. Journal international du cancer. 2001 Mar;95(2):96-101	Frequency of CYP2A6 gene deletion and its relation to risk of lung and esophageal cancer in the Chinese population		122720	16064	2	2001	Our results demonstrate that the CYP2A6 gene deletion is associated with an increased risk of lung and esophageal cancer but not with a reduced tendency to smoke.	Case:149 patients with esophageal squamous-cell carcinoma;Case:151 patients with lung cancer;Control:326 healthy controls	smoking (tobacco)									
120735	Y	iron stores	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180		Ujjin, P.  et al. 2002	11927840				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Thai		CDC GDPinfo	1548	Hs.439056			Pharmacogenetics. 2002 Apr;12(3):241-9	Variation in coumarin 7-hydroxylase activity associated with genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores in adult Thai males and females.		122720	9860	2	2002	These results suggest an increased CYP2A6 expression in subjects who have excessive body iron stores. Further investigations into the underlying factors that may lead to increased expression of CYP2A6 in association with abnormal body iron stores are currently in progress in our laboratory.	Cohort 202 apparently healthy Thais, aged 19-47 years 										
120726	Y	genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores	OTHER	OTH		19	19q13.2	CYP2A6	46041283	46048180		Ujjin P et al. 2002	11927840				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			KGB	1548	Hs.439056			Pharmacogenetics. 2002 Apr;12(3):241-9	Variation in coumarin 7-hydroxylase activity associated with genetic polymorphism of cytochrome P450 2A6 and the body status of iron stores in adult Thai males and females.		122720	1602	1	2002	These results suggest an increased CYP2A6 expression in subjects who have excessive body iron stores. Further investigations into the underlying factors that may lead to increased expression of CYP2A6 in association with abnormal body iron stores are currently in progress in our laboratory.	Cohort 202 apparently healthy Thais, aged 19-47 years										
120895		H. pylori infection	INFECTION	INF	Helicobacter Infections|Gastroesophageal Reflux|Duodenal Ulcer|Stomach Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Gawronska-Szklarz, B.  et al. 2005	15976989				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 Jul;61(6-May):375-9	Effect of CYP2C19 and MDR1 polymorphisms on cure rate in patients with acid-related disorders with Helicobacter pylori infection.		124020	20981	2	2005			amoxycillin clarithromycin metronidazole omeprazole pantoprazole									
120891	Y	omeprazole metabolism; sulfone metabolism	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		He, N.  et al. 2003	12623762				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Xenobiotica; the fate of foreign compounds in biological systems. 2003 Feb;33(2):211-21	Inhibitory effect of troleandomycin on the metabolism of omeprazole is CYP2C19 genotype-dependent.		124020	16239	2	2003	The effect of TAO on the metabolism of OP and its two principal metabolites differs in different genotype groups of CYP2C19. CYP3A4 not only plays a dominant role in the formation of OP sulfone, but also it contributes to the 5-hydroxylation of OP. Both CYP2C19 and CYP3A contribute to the further elimination of 5-OH-OP and OP sulfone.	Cohort 18 healthy male subjects 	omeprazole sulfone									
120887		fatal drug intoxication	OTHER	OTH	Overdose	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Zackrisson, A. L.  et al. 2004	15349706				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Sweden	CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2004 Oct;60(8):547-52	Fatal intoxication cases: cytochrome P( 450 )2D6and 2C19 genotype distributions		124020	16209	2	2004	 The findings in this study confirm our earlier observations of a lower frequency of CYP2D6 PM genotypes in cases of fatal intoxication. To our knowledge, it has not been shown previously that intoxication victims might have a lower frequency of PMs than the general population.	Cohort 242 individuals who had died due to intoxication by pharmaceuticals 										
120870		intragastric acidity	OTHER	OTH		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2005	15963082				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Alimentary pharmacology & therapeutics. 2005 Jul;22(1):67-74	Effect of concomitant dosing of famotidine with lansoprazole on gastric acid secretion in relation to CYP2C19 genotype status.		124020	16116	2	2005	 Acid inhibition by lansoprazole was influenced by CYP2C19 genotype status. This influence was offset by the concomitant use of famotidine.		lansoprazole									
120863		omeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Rosemary, J.  et al. 2005	15662508				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	South Indian		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2005 Mar;61(1):19-23	The effect of the CYP2C19 genotype on the hydroxylation index of omeprazole in South Indians.		124020	16109	2	2005	The prevalence of PMs in the South Indian population was 14.0%, which is similar to that in North Indians and Orientals but significantly higher than in Caucasians and Africans. A genotype-phenotype relationship was established between the CYP2C19 genotype and HI of omeprazole, but 7.7% of subjects deviated from expected genotype-phenotype associations. This could be due to an additional mutation, either in the exons/introns or in the 5'-regulatory region of the CYP2C19 gene.	Cohort 300 healthy unrelated South Indian subjects 										
120847		alprazolam metabolism	PHARMACOGENOMIC	PHARM	Mental Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Suzuki, Y.  et al. 2003	12698310				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Japanese		CDC GDPinfo	1557	Hs.282409			European journal of clinical pharmacology. 2003 Apr;58(12):829-33	Effects of concomitant fluvoxamine on the metabolism of alprazolam in Japanese psychiatric patients: interaction with CYP2C19 mutated alleles.		124020	16093	2	2003	 Coadministration of FLV significantly increased the plasma concentrations of ALP compared with ALP monotherapy. Wide variations were observed in the drug interactions, with the CYP2C19 genotype possibly being related to these interactions.	Cohort 23 Japanese outpatients all concomitantly treated with FLV either before or after monotherapy with ALP 	alprazolam fluvoxamine									
120843	N	CYP2C19 activity	METABOLIC	MET		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Jan, M. W.  et al. 2002	12222750				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Drug metabolism and drug interactions. 2002 ;19(1):11-Jan	Pharmacokinetics of fluvoxamine in relation to CYP2C19 phenotype and genotype.		124020	16089	2	2002	 FLV disposition and dosing is unlikely to be affected by CYP2C19 polymorphism.	Cohort 57 healthy, nonsmoking volunteers aged 21-40 years 	fluvoxamine									
120842	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Peptic Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Inaba, T.  et al. 2002	12121503				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Journal of gastroenterology and hepatology. 2002 Jul;17(7):748-53	Randomized open trial for comparison of proton pump inhibitors in triple therapy for Helicobacter pylori infection in relation to CYP2C19 genotype.		124020	16088	2	2002	 The overall cure rate of 1-week triple therapy for H. pylori eradication was not significantly different between regimens with omeprazole, lansoprazole or rabeprazole, but the impact of CYP2C19 genetic polymorphism on the cure rate appeared to differ between these PPI.	Cohort 183 patients randomized to receive one of the following 	lansoprazole omeprazole rabeprazole									
120833		fluoxetine pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Scordo, M. G.  et al. 2005	16236141				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDPinfo	1557	Hs.282409			Basic & clinical pharmacology & toxicology. 2005 Nov;97(5):296-301	Influence of CYP2C9, 2C19 and 2D6 genetic polymorphisms on the steady-state plasma concentrations of the enantiomers of fluoxetine and norfluoxetine.		124020	9976	2	2005												
120814	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hung, C. C.  et al. 2004	15385837				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Taiwan	CDC GDPinfo	1557	Hs.282409			Therapeutic drug monitoring. 2004 Oct;26(5):534-40	Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms.		124020	9900	2	2004	The results revealed that the CYP2C9 and CYP2C19 polymorphisms have dramatic effects on the population pharmacokinetic parameters of phenytoin, especially for CYP2C9. Based on the Vm and Km values obtained in this study, the recommended dose ranges for G1, G2, G3, G4, and G5 patients would be 5.5-7, 5-7, 5-6, 3-4, and 2-3 mg/kg/d, respectively.	Cohort 169 epileptic patients receiving phenytoin treatment for more than 1 month 	phenytoin									
120924		hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q23.33	CYP2C8	96786518	96819244		Dreisbach, A. W.  et al. 2005	16202848				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	African Americans		CDC GDPinfo	1558	Hs.282871			American journal of hypertension. 2005 Oct;18(10):1276-81	The Prevalence of CYP2C8, 2C9, 2J2, and soluble epoxide hydrolase polymorphisms in African Americans with hypertension.		601129	9993	2	2005	 These results suggest that these epoxygenase-related SNP are not associated with increased risk of hypertension in the African American population. There was significant linkage disequilibrium between CYP2C8*3 and CYP2C9*2 alleles that was not associated with hypertension.											
120921		malaria, plasmodium falciparum	INFECTION	INF		10	10q23.33	CYP2C8	96786518	96819244		Muthiah, Y. D.  et al. 2005	16164496				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Malaysian		CDC GDPinfo	1558	Hs.282871			Journal of clinical pharmacy and therapeutics. 2005 Oct;30(5):487-90	Genetic polymorphism of CYP2C8 in three Malaysian ethnics: CYP2C8*2 and CYP2C8*3 are found inMalaysian Indians.		601129	9918	2	2005	 To the best of our knowledge, the current study described, for the first time polymorphisms of CYP2C8 in Malaysian Indians.											
121080		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Kiyohara, C.  et al. 2002	12234692				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Lung cancer (Amsterdam, Netherlands). 2002 Sep;37(3):241-56	Genetic polymorphisms and lung cancer susceptibility: a review.		601130	25926	2	2002	Review article		smoking (tobacco)									
121069		drug hypersensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Martinez, C.  et al. 2005	15606441				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2005 Jan;59(1):62-9	The effect of the cytochrome P450 CYP2C8 polymorphism on the disposition of (R)-ibuprofen enantiomer in healthy subjects		601130	21019	2	2005	 Polymorphism of the CYP2C8 gene was found to be common, with nearly 30% of the population studied carrying the variant CYP2C8*3 allele. The presence of the latter caused a significant effect on the disposition of (R)-ibuprofen. This suggests that a substantial proportion of Caucasian subjects may show alterations in the disposition of drugs that are CYP2C8 substrates.	Cohort 25`individuals Cohort 355 randomly selected Spanish Caucasians 	ibuprofen									
121053		hypertension; H. pylori infection	CARDIOVASCULAR	CARD		10	10q24	CYP2C9	96688429	96739137		Jose, R.  et al. 2005	15660966				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese		CDC GDPinfo	1559	Hs.282624			Fundamental & clinical pharmacology. 2005 Feb;19(1):101-5	CYP2C9 and CYP2C19 genetic polymorphisms:frequencies in the south Indian population.		601130	21003	2	2005	The frequency of CYP2C9*2 mutant alleles in south Indians was higher than in Chinese and Caucasians, while CYP2C9*3 was similar to Caucasians. CYP2C19*2 was higher than in other major populations reported so far. The relatively high CYP2C19 poor-metabolizer genotype frequency of 12.6% indicates that over 28 million south Indians are poor metabolizers of CYP2C19 substrates.	Cohort unrelated, healthy volunteers from the three south Indian states of Andhra Pradesh, Karnataka and Kerala south India 										
121049	Y	anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Scordo, M. G.  et al. 2002	12496751				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2002 Dec;72(6):702-10	Influence of CYP2C9 and CYP2C19 genetic polymorphisms on warfarin maintenance dose and metabolic clearance.		601130	20999	2	2002	 CYP2C9 genetic polymorphisms markedly influence warfarin dose requirements and metabolic clearance of the S-warfarin enantiomer, although nongenetic factors may also contribute to their large interindividual variability.	Cohort 93 Italian outpatients receiving long-term warfarin anticoagulant therapy 	warfarin									
121046		epilepsy; anticoagulant complications	NEUROLOGICAL	NEUR	Vision Disorders|Genetic Predisposition to Disease|Mental Disorders	10	10q24	CYP2C9	96688429	96739137		Clark, D. W.  et al. 2004	15588114				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Drug safety. 2004 ;27(15):1171-84	Linking pharmacovigilance with pharmacogenetics.		601130	20996	2	2004	Although no differences in the distribution of genotypes in the case and control populations were found in this small study, case-control studies investigating genetic risks for ADRs using drug cohorts from PEM studies are possible, and there are several areas where population-based studies of genetic risk factors for ADRs are needed.Examples are discussed where research in large populations											
121040	Y	heart rate; risperidone metabolism	CARDIOVASCULAR	CARD	Long QT Syndrome	10	10q24	CYP2C9	96688429	96739137		Llerena, A.  et al. 2004	15260906				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of psychopharmacology (Oxford, England). 2004 Jun;18(2):189-93	QTc interval, CYP2D6 and CYP2C9 genotypes and risperidone plasma concentrations.		601130	16207	2	2004	The results suggest that CYP2D6, but Yot CYP2C9, may be related to QTc leYgtheYiYg duriYg treatmeYt with risperidoYe. The effect of the CYP2D6 geYotype iY risperidoYe metabolism is also showY.	Cohort 35 Caucasian European psychiatric patients 										
121031	Y	hypoglycemia	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypoglycemia	10	10q24	CYP2C9	96688429	96739137		Holstein, A.  et al. 2005	15963101				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			British journal of clinical pharmacology. 2005 Jul;60(1):103-6	Association between CYP2C9 slow metabolizer genotypes and severe hypoglycaemia on medication with sulphonylurea hypoglycaemic agents.		601130	16180	2	2005	 These findings suggest that among other factors, individuals with genetically determined low CYP2C9 activity are at an increased risk of sulphonylurea-associated severe hypoglycaemia. Thus, genotyping might be a tool for the better prediction of adverse effects caused by oral hypoglycaemic agents.											
121028		bleeding complications	METABOLIC	MET	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Mark, L.  et al. 2005	15889670				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Orvosi hetilap. 2005 Apr;146(16):739-43	[Significance of cytochrome P450 2C9 genotype for the bleeding complications in patients treated with acenocoumarol]		601130	16177	2	2005	 The frequency-distribution of the CYP2C9 alleles was as reported by others. In patients bearing alleles with reduced enzymatic activity, the occurrence of minor bleeding complications and the INR values higher than 6 were significantly more frequent. In patients with a lower acenocoumarol demand at the introduction of this therapy, a caution is required. In order to test the hypothesis that before the initiation of acenocoumarol therapy the determination of CYP2C9 polymorphism is cost-effective and could improve the optimization of anticoagulation and reduce the risk of bleeding complications a large prospective randomised trial is required.	Cohort 421 patients including 183 men and 238 women, (mean age 66.2 +/- 11.8 years) who took acenocoumarol (Syncumar) for at least 6 months 										
121022		losartan oxidation	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Allabi, A. C.  et al. 2004	15289788				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	black Africans		CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Aug;76(2):113-8	Functional impact of CYP2C95, CYP2C96, CYP2C98, and CYP2C911 in vivo among black Africans.		601130	16171	2	2004	 The CYP2C9*5 and *6 alleles are associated with decreased enzyme activity in vivo compared with the wild-type variant, whereas the CYP2C9*8 and *11 variants did not appear to have large in vivo effects.	Cohort 19 Beninese subjects 										
121014		CYP2C9 activity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Sandberg, M.  et al. 2004	15100169				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Drug metabolism and disposition:  the biological fate of chemicals. 2004 May;32(5):484-9	The impact of CYP2C9 genetics and oral contraceptives on cytochrome P450 2C9 phenotype.		601130	16163	2	2004	In summary, CYP2C9 genotype and oral contraceptives both contribute to a large interindividual variation in CYP2C9 activity.	Cohort 126 healthy white subjects 	oral contraceptive									
120985	Y	anticoagulant complications; bleeding events, warfarin therapy-related; overanticoagulation, warfarin therapy-related	PHARMACOGENOMIC	PHARM	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Higashi, M. K.  et al. 2002	11926893				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			JAMA. 2002 Apr;287(13):1690-8	Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy.		601130	16134	2	2002	 The results of our study suggest that the CYP2C9*2 and CYP2C9*3 polymorphisms are associated with an increased risk of overanticoagulation and of bleeding events among patients in a warfarin anticoagulation clinic setting, although small numbers in some cases would suggest the need for caution in interpretation. Screening for CYP2C9 variants may allow clinicians to develop dosing protocols and surveillance techniques to reduce the risk of adverse drug reactions in patients receiving warfarin.	Cohort 200 patients receiving long-term warfarin therapy for various indications April 1990-May, 2001 										
120983		cytokines; tumor markers	IMMUNE	IMM		10	10q24	CYP2C9	96688429	96739137		Yilmaz, N.  et al. 2001	11833786				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Acta biochimica Polonica. 2001 ;48(3):775-82	Cytochrome P4502C9 genotype in Southeast Anatolia and possible relation with some serum tumour markers and cytokines.		601130	16132	2	2001	Although slight differences in serum tumour marker and cytokine concentrations were observed for CYP2C9 genotypes the differences were statistically insignificant (P > 0.05). This could be due to the complexity of the role of CYP2C9 in benzo(a)pyrene metabolism as well as from other contributing factors like interindividual variability of diverse enzymes participating in the same metabolic pathway, unequal expression of the variant alleles and differences in exposure to carcinogens. However, determination of CYP2C9 phenotypes in a larger group of subjects might clarify these slight differences.	Cohort 64 healthy subjects 										
120980	Y	anticoagulant complications; bleeding complications	METABOLIC	MET	Thromboembolism	10	10q24	CYP2C9	96688429	96739137		Margaglione, M.  et al. 2000	11127854				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Thrombosis and haemostasis. 2000 Nov;84(5):775-8	Genetic modulation of oral anticoagulation with warfarin.		601130	16129	2	2000	The incidence of bleeding complications in CYP2C9*2 and CYP2C9*3 carriers was significantly higher than that in noncarriers and interacted with the presence of local bleeding sources.	Cohort 180 patients followed up at one specialized clinic from the start of the anticoagulation with warfarin 	warfarin									
120970		warfarin therapy, response to	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Tai, G.  et al. 2005	15970795				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics and genomics. 2005 Jul;15(7):475-81	In-vitro and in-vivo effects of the CYP2C9*11 polymorphism on warfarin metabolism and dose.		601130	9952	2	2005	 In-vivo reduction in CYP2C9 (S)-warfarin activity due to the CYP2C9*11 polymorphism may largely be a consequence of decreased enzyme stability resulting in compromised expression of holo-enzyme. Increased enzyme lability of CYP2C9.11 may be related to improper folding due to the disruption of conserved salt-bridge and hydrogen bonding contacts in the loop region between the J and J' helices of the protein.											
120963	Y	anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Schalekamp, T.  et al. 2004	15536456				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2004 Nov;76(5):409-17	Effects of cytochrome P450 2C9 polymorphisms on phenprocoumon anticoagulation status.		601130	9945	2	2004	 The presence of at least 1 CYP2C9*2 or *3 allele in phenprocoumon users is associated with an increased risk of severe overanticoagulation. Similar to warfarin and acenocoumarol, phenprocoumon had a lower dosage requirement in carriers of CYP2C9*2 or *3 compared with that in CYP2C9 wild-type subjects.	Cohort 284 subjects from 2 anticoagulation clinics The Netherlands 	phenprocoumon									
120955	Y	anticoagulant complications	METABOLIC	MET	Thromboembolism|Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Topic, E.  et al. 2004	15061384				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Croatia	CDC GDPinfo	1559	Hs.282624			Clinical chemistry and laboratory medicine. 2004 Jan;42(1):72-8	Association between the CYP2C9 polymorphism and the drug metabolism phenotype.		601130	9937	2	2004	These preliminary results suggest a significant association of the CYP2C9 polymorphism with the warfarin dose and underline the importance of pre-therapeutic genotyping to identify the subjects likely to develop undesirable drug effects.	Control:177 representatives of the Croatian population;Case:181 patients with thromboembolism on warfarin	warfarin									
120948		anticoagulant complications	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Linder, M. W.  et al. 2002	12913403				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Journal of thrombosis and thrombolysis. 2002 Dec;14(3):227-32	Warfarin dose adjustments based on CYP2C9 genetic polymorphisms.		601130	9930	2	2002	 Subjects who have been titrated to a consistent target INR demonstrate comparable plasma S-warfarin concentrations independent of CYP2C9 genotype. The warfarin dose required to maintain a consistent target INR between subjects differs as a function of S-warfarin clearance which is decreased by both CYP2C9*2 and or CYP2C9*3 variant alleles. The variables of CYP2C9 genotype and age can be applied to restrict the dosage range considered for individual patients.	Cohort patients stabilized on warfarin therapy 	warfarin									
120946	Y	glucose; insulin secretion	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2002	11956512				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Clinical pharmacology and therapeutics. 2002 Apr;71(4):286-96	Impact of CYP2C9 amino acid polymorphisms on glyburide kinetics and on the insulin and glucose response in healthy volunteers		601130	9928	2	2002	 Carriers of the CYP2C9 variant *3 had decreased oral clearances of glyburide. This confirms that glyburide is metabolized by CYP2C9. Corresponding differences in insulin plasma levels indicated that dose adjustment based on CYP2C9 genotype may improve antidiabetic treatment.	Cohort 21 healthy volunteers 	glyburide									
120943		drug hypersensitivity	METABOLIC	MET		10	10q24	CYP2C9	96688429	96739137		Gaedigk, A.  et al. 2001	11697742				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Canadian Native Indian and Inuit populations		CDC GDPinfo	1559	Hs.282624			Canadian journal of physiology and pharmacology. 2001 Oct;79(10):841-7	Cytochrome P4502C9 (CYP2C9) allele frequencies in Canadian Native Indian and Inuit populations		601130	9925	2	2001	This group of Inuit individuals are the first population in which no 2C9*2 or *3 alleles have been detected so far. Therefore, these alleles may be extremely rare or absent, and unless other novel polymorphisms exist in this Inuit group one would not anticipate any CYP2C9 poor metabolizer subjects among this population.	Cohort 102 Chinese subjects Cohort 151 Inuit subjects Cohort 153 Native Canadian Indian Cohort 325 Caucasian (white North American) 										
120939	Y	phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy|Mental Retardation	10	10q24	CYP2C9	96688429	96739137		van der Weide, J.  et al. 2001	11434505				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDPinfo	1559	Hs.282624			Pharmacogenetics. 2001 Jun;11(4):287-91	The effect of genetic polymorphism of cytochrome P450 CYP2C9 on phenytoin dose requirement.		601130	9921	2	2001	The results show that there is a strong association between CYP2C9 allelic variants and phenytoin dose requirement. Since phenytoin has a narrow therapeutic index and genotyping may be carried out rapidly and at low cost, dosage adjustment based on CYP2C9 genotype, especially at the induction of therapy, would be of value in order to lower the risk of concentration dependent drug intoxications in carriers.	Cohort 60 epileptic patients on long-term phenytoin therapy 	phenytoin									
121151		arthritis; cholesterol, HDL; diabetes, type 2; osteoarthritis; blood pressure, arterial; liver disease; acetaldehyde;	UNKNOWN	UNK		10	10q24.3-qter	CYP2E1	135190856	135224714		Griese, E. U.  et al. 2001	11207032				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Australian		CDC GDPinfo	1571	Hs.12907			Pharmacogenetics. 2001 Feb;11(1):69-76	Allele and genotype frequencies of polymorphic cytochromes P4502D6, 2C19 and 2E1 in aborigines from western Australia		124040	24273	2	2001	For CYP2D6 and CYP2C19, allele frequencies and predicted phenotypes differed significantly from those for Caucasians but were similar to those for Orientals indicating a close relationship to East Asian populations.	Cohort people living in the far north of Western Australia Australia 										
121134	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Sugimura T, et al 2006	16393248				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Journal of oral pathology & medicine. 2006 Jan;35(1):8-Nov	Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study formetabolic and DNA repair gene polymorphisms		124040	21070	2	2006	CYP2E1, XPA and ERCC1 polymorphisms may affect the risk of oral squamous cell carcinoma (OSCC)		alcohol smoking (tobacco)									
121125		DNA damage, biomarkers of	OTHER	OTH	DNA Damage|Chromosome Aberrations	10	10q24.3-qter	CYP2E1	135190856	135224714		Vodicka, P.  et al. 2001	11535253				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Mutation research. 2001 Oct;482(2-Jan):89-103	Association between genetic polymorphisms and biomarkers in styrene-exposed workers.		124040	21061	2	2001	In conclusion, our present data suggest that analysed biomarkers of DNA damage may be modulated by polymorphic CYP2E1, EPHX and GSTP1. In our study, styrene-specific DNA and haemoglobin adducts are under investigation. Completing these data with the results of genotyping of metabolising enzymes may provide a useful tool for individual genotoxic risk assessment.	Control:18 unexposed controls (not otherwise specified in:abstract);Case:44 hand-lamination workers	styrene									
121115		styrene toxicity	UNKNOWN	UNK		10	10q24.3-qter	CYP2E1	135190856	135224714		Teixeira, J. P.  et al. 2004	14751678				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Toxicology. 2004 Feb;195(3-Feb):231-42	Occupational exposure to styrene: modulation ofcytogenetic damage and levels of urinary metabolites of styrene by polymorphisms in genes CYP2E1, EPHX1, GSTM1, GSTT1 and GSTP1.		124040	17045	2	2004	The present data seem to suggest that apart from the methodology usually used for monitoring populations occupationally exposed to styrene (urinary metabolites and biomarkers of early biological effects) the analysis of individual genotypes associated with the metabolic fate of styrene should also be carried out in order to evaluate the individual genetic susceptibility of exposed populations.	Control:28 control subjects;Case:28 reinforced plastic workers										
121106		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Haque, A. K.  et al. 2004	15536330				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDPinfo	1571	Hs.12907			Applied immunohistochemistry & molecular morphology. 2004 Dec;12(4):315-22	CYP2E1 polymorphism, cigarette smoking, p53 expression, and survival in non-small cell lung cancer: a long term follow-up study.		124040	10321	2	2004	No association was found between survival and tumor type; tumor differentiation; expression of phospho-AKT, p27, and bcl-2; and polymorphic metabolizing genes other than CYP2E1. The significant association of long duration of smoking (>40 years) with loss of p53 expression and poor survival suggests inactivation of the protective p53 pathway in those who had a history of more than 40 years of smoking.	Cohort 87 lung cancer patients 	smoking (tobacco)									
139226		cholesterol, HDL; cholesterol, LDL	METABOLIC	MET		7	7q21.1	CYP3A4	99192539	99219744		Almeida, S.  et al. 2005	16130011				Cytochrome P450, family 3, subfamily A, polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017460.3			CDC GDPinfo	1576	Hs.567254			The pharmacogenomics journal. 2005 ;5(6):346-51	Estrogen-metabolizing gene polymorphisms and lipid levels in women with different hormonal status.		124010	25942	2	2005			hormone replacement therapy									
121201	Y	hypertension	CARDIOVASCULAR	CARD		1	1p34-p12	CYP4B1	47037328	47057672		Lo-Guidice, J. M.  et al. 2002	12142726				Cytochrome P450, family 4, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000779.2			CDC GDPinfo	1580	Hs.436317			Pharmacogenetics. 2002 Jul;12(5):367-74	Genetic polymorphism of the human cytochrome P450 CYP4B1: evidence for a non-functional allelicvariant.		124075	10061	2	2002	Given the relatively high frequency and the functional consequences of the CYP4B1*2 allele, associations between CYP4B1 polymorphism and certain pathological processes should be considered.	Cohort 190 French Caucasians 										
120126	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Zheng, W.  et al. 2004	15159300				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1		China	CDC GDPinfo	1583	Hs.303980			Cancer epidemiology, biomarkers & prevention. 2004 May;13(5):709-14	Population-Based Case-Control Study of CYP11A Gene Polymorphism and Breast Cancer Risk		118485	9672	2	2004	The results from this study indicate that the TAAAA repeat polymorphism near the promoter region of the CYP11A gene may be an important susceptibility factor for breast cancer risk.	Case:1,015 Chinese incident breast cancer cases:Shanghai;Control:1,082 community controls	menopause obesity									
120178	N	preeclampsia; eclampsia; HELLP syndrome	REPRODUCTION	REP	Eclampsia|HELLP Syndrome|Pre-Eclampsia|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Percin, F. E.  et al. 2005	16303227				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Turkish		CDC GDPinfo	1585	Hs.632054			European journal of obstetrics, gynecology, and reproductive biology. 2005	Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women.		124080	9705	2	2005	 The CYP11B2 gene polymorphism is not directly associated with preeclampsia, eclampsia, and the HELLP syndrome in women with these conditions. Therefore, this polymorphism may not be a risk factor for these disorders, at least not in the Turkish population.											
120156	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Chen, A. H.  et al. 2002	12376254				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Di yi jun yi da xue xue bao. 2002 Aug;22(8):704-6	[Association between aldosterone synthase gene polymorphism and hypertrophic cardiomyopathy]		124080	9683	2	2002	 CT genotype of CYP11B2 gene may be one of factors responsible for the pathogenesis of HCM in a proportion of patients.	Case:15 hypertrophic cardiomyopathy patients;Control:18 healthy subjects										
120150		cerebral white matter hyperintensities	NEUROLOGICAL	NEUR	Brain Diseases	8	8q21-q22	CYP11B2	143988976	143996261		Verpillat, P.  et al. 2001	11245725				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDPinfo	1585	Hs.632054			Neurology. 2001 Mar;56(5):673-5	Aldosterone synthase (CYP11B2) gene polymorphism and cerebral white matter hyperintensities		124080	9677	2	2001	The T allele was associated with the risk of severe white matter hyperintensities. This association was independent of hypertension.	Cohort 829 individuals aged 63 to 75 years 										
120343		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Wang, P. N.  et al. 2004	15591802				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		Taiwan	CDC GDPinfo	1586	Hs.438016			Dementia and geriatric cognitive disorders. 2005 ;19(3-Feb):120-5	Estrogen-metabolizing gene COMT polymorphism synergistic APOE epsilon4 allele increases the risk of Alzheimer disease.		202110	24204	2	2004	Further studies to clarify this interaction may improve our understanding of the generic risks for AD.	Case:66 patients with Alzheimer's disease;Control:86 age- and gender-matched normal subjects										
120332		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Huber, A.  et al. 2005	16202920				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Journal of the Society for Gynecologic Investigation. 2005 Oct;12(7):e51-4	Ten polymorphisms of estrogen-metabolizing genes and a family history of colon cancer--an association study of multiple gene-gene interactions.		202110	20909	2	2005												
120304	Y	bone density; osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Chen, H. Y.  et al. 2005	15927351				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			European journal of obstetrics, gynecology, and reproductive biology. 2005 Sep;122(1):73-8	Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density andsusceptibility to osteoporosis.		202110	11644	2	2005	 The RsaI IL-10 promoter gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine.	Cohort postmenopausal women 										
120298		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Chronic Disease|Schizophrenia	10	10q24.3	CYP17A1	104580277	104587280		Segman, R. H.  et al. 2002	11839369				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Biological psychiatry. 2002 Feb;51(3):261-3	Interactive effect of cytochrome P450 17alpha-hydroxylase and dopamine D3 receptor gene polymorphisms on abnormal involuntary movements in chronic schizophrenia.		202110	10145	2	2002	 Schizophrenia patients who carry the dopamine D3gly allele and the cytochrome P 450 17alpha-hydroxylase A2-A2 genotype may be more likely to develop abnormal orofoacial and distal involuntary movements and to be incapacitated by these movements when chronically exposed to classical antipsychotic drugs.	Case:55 schizophrenia patients with tardive dyskinesia;Control:58 schizophrenia patients without tardive dyskinesia										
120281	Y	liver disease	OTHER	OTH	Breast Neoplasms|Fatty Liver|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Ohnishi, T.  et al. 2005	15706422				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Oncology reports. 2005 Mar;13(3):485-9	CYP17 polymorphism as a risk factor of tamoxifen-induced hepatic steatosis in breast cancer patients.		202110	9739	2	2005	Our study provides the first evidence that CYP17 polymorphism participates in the development of THS, and sheds light on the genetic causes of this side effect and genetic differences between tamoxifen-treated individuals.	Cohort 180 eligible breast cancer patients treated with tamoxifen 	tamoxifen									
120278	Y	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Hong, C. C.  et al. 2004	15609124				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Breast cancer research and treatment. 2004 Dec;88(3):217-30	Association between the T27C polymorphism in the cytochrome P450 c17alpha (CYP17) gene and risk factors for breast cancer		202110	9736	2	2004	Our findings suggest that the CYP17 A2 allele is associated with hormone levels, and interacts with insulin levels and diet to affect breast density levels and potentially breast cancer risk.	Cohort 173 postmenopausal women 										
120271		uterine fibroids	UNKNOWN	UNK	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Amant, F.  et al. 2004	14995917				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	South African	South Africa	CDC GDPinfo	1586	Hs.438016			Acta obstetricia et gynecologica Scandinavica. 2004 Mar;83(3):234-9	A possible role of the cytochrome P450c17alpha gene (CYP17) polymorphism in the pathobiology of uterine leiomyomas from black South African women: a pilotstudy.		202110	9728	2	2004	 This exploratory trial suggests that among African women, homozygous carriers of the CYP17 A2 allele expose their myometrium to a stronger estrogenic stimulation contributing to the pathobiology of uterine leiomyomas.	Cohort 125 Caucasian and black South African women undergoing hysterectomy 										
120265	Y	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Wu, A. H.  et al. 2003	12584742				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Chinese	Singapore	CDC GDPinfo	1586	Hs.438016			International journal of cancer. Journal international du cancer. 2003 Apr;104(4):450-7	HSD17B1 and CYP17 polymorphisms and breast cancer risk among Chinese women in Singapore		202110	9720	2	2003	We observed an elevated joint effect of the CYP17 and HSD17B1 genes on risk	Case:188 incident breast cancer cases:Singapore;Control:671 female cohort control subjects										
120258	N	polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	10	10q24.3	CYP17A1	104580277	104587280		Marszalek, B.  et al. 2001	11379008			promoter	Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Gynecological endocrinology. 2001 Apr;15(2):123-8	Investigations on the genetic polymorphism in the region of CYP17 gene encoding 5'-UTR in patients with polycystic ovarian syndrome.		202110	9712	2	2001	It is concluded that T-->C polymorphism of CYP17 gene is not associated with steroid hormone synthesis in PCOS and is not the primary genetic defect in this disease.	Case:55 women with polycystic ovarian syndrom (PCOS);Control:56 healthy women without symptoms of PCOS										
120253	Y	prostatic hyperplasia; prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Habuchi, T.  et al. 2000	11059764				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDPinfo	1586	Hs.438016			Cancer research. 2000 Oct;60(20):5710-3	Increased risk of prostate cancer and benign prostatic hyperplasia associated with a CYP17 gene polymorphism with a gene dosage effect.		202110	9707	2	2000	the A1 allele of the CYP17 polymorphism is associated with an increased risk of prostate cancer and BPH, with a gene dosage effect. However, the CYP17 genotype does not seem to influence the disease status in prostate cancer.	Control:131 male controls;Case:252/202 252 prostate cancer patients,202 BPH patients										
120398		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Goode, E. L.  et al. 2002	12036913				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Cancer research. 2002 Jun;62(11):3052-7	Effect of germ-line genetic variation on breast cancer survival in a population-based study.		107910	28036	2	2002	Even if confirmed, the prognostic markers identified in this study are unlikely to replace current markers of prognosis such as estrogen receptor status. However, our results demonstrate the potential of the analysis of germ-line variation to provide insight into the biological determinants of response to treatment and prognosis in breast cancer.	Cohort 2430 cases of breast cancer from a population-based study for whom current vital status data were available 										
120363	Y	bone mass	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086		Zarrabeitia, A.  et al. 2004	15207764				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDPinfo	1588	Hs.511367			Bone. 2004 Jul;35(1):243-8	Age-related influence of common aromatase gene polymorphisms on bone mass of healthy men		107910	9764	2	2004	These results suggest that common variations in CYP19-aromatase gene may have an important influence on the maintenance of male skeleton after peak bone mass is reached.	Cohort 324 healthy men of a wide age range (mean age 49, range 22-75) 										
120719	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q13.1-q13.3	CYP27B1	56442383	56447243	n	Hawkins GA et al. 2002	12386916				Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3			KGB	1594	Hs.524528			The Prostate. 2002 Nov;53(3):175-8	Sequence variants in the human 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27B1) gene are not associated with prostate cancer risk.		264700	1717	1	2002	 This study suggests that the CYP27B1 gene does not play a major role as a prostate cancer susceptibility gene.	Control:222:controls;Case:245 prostate cancer cases										
139327	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Zhang, H. B.  et al. 2004	15205702				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			Beijing da xue xue bao Yi xue ban. 2004 Jun;36(3):290-3	[Association of dopamine beta-hydroxylase polymorphism with attention deficit hyperactivity disorder in children]		223360	10080	2	2004	 DBH gene is related to ADHD combined subtype and inattention subtype. The genetic basis of ADHD combined subtype and is inattention is different, and is influenced by sex factor.	Cohort Han children with attention deficit hyperactivity disorder 										
139331		dopamine beta-hydroxylase activity	UNKNOWN	UNK		9	9q34	DBH	135491305	135514287		Tang, Y.  et al. 2005	16152569				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDPinfo	1621	Hs.591890			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Nov;139(1):88-90	Haplotype-controlled analysis of the association of a non-synonymous single nucleotide polymorphism at DBH (+ 1603C --> T) with plasma dopamine beta-hydroxylase activity.		223360	10084	2	2005												
115382	N	dementia in other conditions	PSYCH	PSY	Cerebrovascular Accident|Dementia	17	17q23	ACE	58908165	58952935		Arpa, A.  et al. 2003	12736093				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of the neurological sciences. 2003 Jun;210(2-Jan):77-82	Apolipoprotein E, angiotensin-converting enzyme and alpha-1-antichymotrypsin genotypes are not associated with post-stroke dementia.		106180	19373	2	2003	Our data indicate that PSD is not associated with the genetic risk factors of vascular dementia (VD) that were studied, and that additional factors may contribute to the pathogenesis of PSD.	Cohort 150 consecutive patients evaluated 3 months after suffering acute strokes 										
115374		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Coffey, C. S.  et al. 2004	15119966				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			BMC bioinformatics [electronic resource]. 2004 Apr;5:49	An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of modelvalidation.		106180	18941	2	2004	 The significant interaction initially observed does not validate and may represent a type I error. As data-driven analytic methods continue to be developed and used to examine complex genetic interactions, it will become increasingly important to stress model validation in order to ensure that significant effects represent true relationships rather than chance findings.	Case:343 myocardial infarction cases from the Physicians Health Study;Control:343 matched controls										
115355	Y	lipid metabolism	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Pallaud, C.  et al. 2001	11714857				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of lipid research. 2001 Nov;42(11):1879-90	Genetic influences on lipid metabolism trait variability within the Stanislas Cohort		106180	15256	2	2001	In conclusion, this work, in addition to the reinforcement of the already known associations between APOB, APOE, and APOC3 genes and lipids, leads to new perspectives in the complex relationships among genes and environmental factors. The newly observed relationships between E-selectine gene and lipid concentrations support the hypotheses of multiple metabolic pathways contributing to the complexity of lipids variability	Cohort 1552 772 men and 780 women coming for a health checkup examination within the Stanislas cohort. 	oral contraceptive smoking (tobacco)									
115344		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	17	17q23	ACE	58908165	58952935			16369102				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		106180	14993	2	2006			diet family history stress									
115338	Y	myocardial infarct; diabetes, type 2	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Xing, G.  et al. 2005	15793788				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua yi xue yi chuan xue za zhi. 2005 Apr;22(2):206-8	[Angiotensin converting enzyme gene and exercise-induced silent myocardial ischemia in type 2 diabetes mellitus]		106180	14987	2	2005	 ACE D allele increases the risk of SI in type 2 diabetes mellitus.	Case:180 patients with type 2 diabetes with normal rest:electrocardiograph;Control:50 healthy individuals randomly selected										
115332	Y	diabetes, type 2; hypertension	METABOLIC	MET	Hypertrophy, Left Ventricular|Hypertension|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935			15332573				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ter Arkh. 2004 ;76(6):30-5	[Polymorphic markers of GNB3 (C825T), AGTR1 (A1166C) and ACE (A2350G and I/D) genes in patients with arterial hypertension combined with diabetes mellitus type 2]		106180	14981	2	2004	 Polymorphic markers of ACE and GNB3 candidate genes influence clinical diversity of pathological signs in DM2 patients through modification of AH and LVH severity and the level of proinflammatory cytokines.	Cohort 89 hypertensive patients with type 2 diabetes 										
115320		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Cardiomegaly|Hypertension	17	17q23	ACE	58908165	58952935			12469628				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Ter Arkh. 2002 ;74(10):30-7	[Clinico-genetic aspects of the hypotensive response and regression of left ventricular hypertrophy in arterial hypertension patients]		106180	14969	2		 Regress of LVH in AH patients depends on dynamics and complex interactions of some hemodynamic, laboratory and genetic parameters.	Cohort 64 patients with arterial hypertension and left ventricular hypertrophy 										
115316	N	renal allograft function	UNKNOWN	UNK	Disease Progression	17	17q23	ACE	58908165	58952935		Nicod, J.  et al. 2002	11923700				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Transplantation. 2002 Mar;73(6):960-5	Recipient RAS gene variants and renal allograft function.		106180	14965	2	2002	 The rate of decline in renal allograft function is strongly associated with the CYP11B2 but not AGT, ACE, or AGT1R genotypes. This finding suggests that certain genetic factors related to the RAS are important determinants of long-term renal allograft function.	Cohort 223 first-allograft recipients 										
115298	N	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	17	17q23	ACE	58908165	58952935		Austin, H.  et al. 2002	12468767				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United States	CDC GDPinfo	1636	Hs.298469			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		106180	13141	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
115283		hypertension	CARDIOVASCULAR	CARD	Hypertension, Renal	17	17q23	ACE	58908165	58952935		Matayoshi, T.  et al. 2004	15824464				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension research. 2004 Nov;27(11):821-33	The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics.		106180	8522	2	2004			thiazide diuretics									
115280		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Persu, A.  et al. 2003	13679477	Gly460Trp			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		France	CDC GDPinfo	1636	Hs.298469			Nephrology, dialysis, transplantation. 2003 Oct;18(10):2032-8	Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidney disease.		106180	8410	2	2003	 In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age at ESRD, either alone or in combination with the G460W polymorphism of ADD. However, a deleterious effect of the DD genotype of ACE on renal disease progression was observed in ADPKD males.	Cohort 191 autosomal dominant polycystic kidney disease patients 										
115277		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Sciarrone, M. T.  et al. 2003	12623934				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Hypertension. 2003 Mar;41(3):398-403	ACE and alpha-adducin polymorphism as markers of individual response to diuretic therapy.		106180	8407	2	2003	alpha-Adducin and ACE I/D polymorphism may be useful to predict the interindividual degree of response to hydrochlorothiazide; the analysis of the combination of the 2 genotypes increases the accuracy of the prediction of response to the drug.	Cohort 87 never-treated individuals with mild essential hypertension 	hydrochlorothiazide	ACE	I	ADD1	460Trp			Y	age and body mass index	basal mean blood pressure in response to diuretic therapy
115270	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Wu, S. L.  et al. 2005	16080804				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Zhonghua xin xue guan bing za zhi [Chinese journal of cardiovascular diseases]. 2005 Jul;33(7):595-8	[Association of polymorphisms in ACE and CYP11B2 genes with antihypertensive effects of hydrochlorothiazide]		106180	8364	2	2005	 The present study suggested that the ACE DD genotype was associated with the systolic BP response to HCTZ, and that the subjects with the combination of ACE DD and CYP11B2 CC genotypes might have a better BP response to HCTZ than the other genotypic combinations of these 2 genes.		hydrochlorothiazide	ACE	DD	CYP11B2	CC			Y		blood pressure response to hydrochlorothiazide
115263		kidney failure, chronic	RENAL	REN	Kidney Failure, Acute|Hypertension	17	17q23	ACE	58908165	58952935		Fabris, B.  et al. 2005	15662219				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Italy	CDC GDPinfo	1636	Hs.298469			Journal of hypertension. 2005 Feb;23(2):309-16	Genetic polymorphisms of the renin-angiotensin-aldosterone system and renal insufficiency in essential hypertension.		106180	8357	2	2005	 Our findings suggest that in patients with essential hypertension an unfavorable genetic pattern of RAAS may contribute to the increased risk for the development of renal failure.	Control:172 hypertensive patients without renal insufficiency matched for age and hypertension duration to within 2 years;Case:86 hypertensive patients with renal insufficiency										
115226		hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Poch, E.  et al. 2002	12015946				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Med Clin (Barc). 2002 Apr;118(15):575-9	[Genetic polymorphisms of the renin-angiotensin system and essential hypertension]		106180	8319	2	2002	 This study suggests that in the population studied, the contribution of the ACE I/D polymorphism and the AGT M235T polymorphism in the development of EH is less important than previously estimated.	Case:1204 patients with hypertension;Control:647 individuals with no family history of cardiovascular disease who had a normal blood:pressure										
115213	Y	renal disease, end stage	RENAL	REN	Diabetic Nephropathies|Glomerulonephritis|Kidney Failure, Chronic|Diabetes Mellitus|Disease Progression|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Lovati, E.  et al. 2001	11422735				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Kidney international. 2001 Jul;60(1):46-54	Genetic polymorphisms of the renin-angiotensin-aldosterone system in end-stage renal disease.		106180	8306	2	2001	 Susceptibility for ESRD and faster progression to ESRD are linked with the AGT genotype in diabetic patients. Faster progression to ESRD is associated with the ACE genotype when the total population with ESRD and with the AGT genotype when patients with glomerulonephritis are considered. Thus, genes of the renin-angiotensin-aldosterone system are candidate genes for further understanding of the interindividual differences in the development and course of ESRD.	Case:260 end-stage renal disease patients;Control:327 control subjects										
115206		renal function	UNKNOWN	UNK	Glomerulonephritis, IGA|Kidney Failure, Chronic	17	17q23	ACE	58908165	58952935		Frimat L  et al. 2000	11053482				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDPinfo	1636	Hs.298469			Journal of the American Society of Nephrology. 2000 Nov;11(11):2062-7	Polymorphism of angiotensin converting enzyme, angiotensinogen, and angiotensin II type 1 receptor genes and end-stage renal failure in IgA nephropathy: IGARAS--a study of 274 Men.		106180	8299	2	2000	Compared with S(cr) and 24-P, genotypes DD, TT, and AA are unlikely to serve as clinically useful predictors of ESRF in IgAN.	Case:274 274 Caucasian men with biopsy-proven IgAN (n = 86, 112, and 76 in stages 1, 2, and 3, respectively										
115159		diabetes, type 2	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935	0.015	Tkac I 2003	14740347	insertion/deletion	higher fibrinogen in I/I homozygotes in comparison to ID+DD carriers		Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Type 2 diabetes		Y Wang	1636	Hs.298469			Wiener klinische Wochenschrift. 2003 Dec;115(23):835-9	Angiotensin-converting enzyme genotype, albuminuria and plasma fibrinogen in type 2 diabetes mellitus.		106180	2000	1	2003	 ACE gene polymorphism is associated with plasma fibrinogen level in type 2 diabetes. This association is mediated by an interaction between ACE genotype and albuminuria. Diabetes patients with genotypes II or ID have increased plasma fibrinogen in the presence of albuminuria.	Case:125										
115151		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Gumprecht J 2002	12165749	insertion/deletion			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			Y Wang	1636	Hs.298469			Medical science monitor. 2002 Aug;8(8):CR603-6	Angiotensin I-converting enzyme and chymase gene polymorphisms - relationship to left ventricular mass in type 2 diabetes patients.		106180	1992	1	2002	 Our results may suggest the additive effect of ACE and CMA gene polymorphisms on the increase in left ventricular mass in NIDDM patients.											
115121		coronary atherosclerosis.	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis	17	17q23	ACE	58908165	58952935		Ye S 2003	12975417				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Heart (British Cardiac Society). 2003 Oct;89(10):1195-9	Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis.		106180	1962	1	2003	 These findings suggest that variation in the ACE and AGTR1 genes and their interaction may not only contribute to susceptibility of coronary artery disease as previously found but also modify the disease process, thus contributing to interindividual differences in severity of the disease.											
114982	Y	cardiovascular	CARDIOVASCULAR	CARD	Heart Failure|Chronic Disease	17	17q23	ACE	58908165	58952935		Cicoira M et al. 2001	11401115				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Journal of the American College of Cardiology. 2001 Jun;37(7):1808-12	Failure of aldosterone suppression despite angiotensin-converting enzyme (ACE) inhibitor administration in chronic heart failure is associated with ACE DD genotype.		106180	1823	1	2001	 Patients with CHF with aldosterone escape have a higher prevalence of DD genotype compared with patients with aldosterone within the normal limits. Angiotensin-converting enzyme gene polymorphism contributes to the modulation and adequacy of the neurohormonal response to long-term ACE-inhibitor administration in CHF.											
114886	Y	Longevity	AGING	AGE		17	17q23	ACE	58908165	58952935		Rahmutula D 2002	11773214	Insertion/ Deletion (I/D) polymorphism			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	China		TJB	1636	Hs.298469			The journals of gerontology Series A, Biological sciences and medical sciences. 2002 Jan;57(1):M57-60			106180	1727	1	2002	 This association reflects a genetic influence on differential survival and may point to pleiotropic age-dependent effects on longevity. Our data may help elucidate the relationship between natural longevity and race difference among individuals in the Xin Jiang Uighur Autonomous region of China.											
139349		cystic fibrosis; Candida	INFECTION	INF		8	8p23.1-p22	DEFB4	7789608	7791647		Jurevic, R. J.  et al. 2002	12537649				Defensin, beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004942.2			CDC GDPinfo	1673	Hs.105924			Genetic testing. 2002 ;6(4):261-9	Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations.		602215	21140	2	2002	Our results show that genotypic variability among ethnic groups will need to be addressed when performing associative genetic studies of innate defense mechanisms and susceptibility to disease.	Cohort five ethnic populations 										
131869	Y	urolithiasis	METABOLIC	MET	Urinary Calculi|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Schulz WA et al. 1998	9825838				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			KGB	1728	Hs.406515			Pharmacogenetics. 1998 Oct;8(5):453-4	Predisposition towards urolithiasis associated with the NQO1 null-allele.		125860	2059	1	1998												
139354		mental retardation	DEVELOPMENTAL	DEV	Muscular Dystrophies|Mental Retardation	X	Xp21.2	DMD	31047265	33267647		Lenk U et al. 1993	8281150				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			KGB	1756	Hs.495912			Human molecular genetics. 1993 Nov;2(11):1877-81	Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.		300377	6996	1	1993												
121362		schizophrenia	PSYCH	PSY	Schizophrenia	8	8p22-p21	DPYSL2	26427904	26571610			16321170				Dihydropyrimidinase-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001386.4			CDC GDPinfo	1808	Hs.173381			The international journal of neuropsychopharmacology. 2005	An investigation of the dihydropyrimidinase-like 2 ( DPYSL2 ) gene in schizophrenia: geneticassociation study and expression analysis		602463	16359	2	2005												
121370	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q35.1	DRD1	174800280	174803769		Rybakowski, J. K.  et al. 2005	15785860				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDPinfo	1812	Hs.2624			J Neural Transm. 2005 Nov;112(11):1575-82	An association study of dopamine receptors polymorphisms and the Wisconsin Card Sorting Test in schizophrenia.		126449	10207	2	2005	The results may suggest an association between DRD1 gene polymorphism and performance on PFC test in schizophrenia. Also, the gender-dependent role of DRD2 in this process may be presumed.	Cohort 138 schizophrenic patients 										
121466		mood disorders	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Psychotic Disorders|Schizophrenia|Schizophrenia, Paranoid	11	11q23	DRD2	112785526	112851091		Serretti A et al. 2000	10889529			coding sequence	Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Italian (Caucasian)		Serretti	1813	Hs.73893			Molecular psychiatry. 2000 May;5(3):270-4	Dopamine receptor D2 ser/cys 311 variant is associated with delusion and disorganization symptomatology in major psychoses		126450	2166	1	2000		Case:BP: 480; MDD= 269; SKZ= 366; delusional disorder= 44;psychotic disorder not otherwise specified=23; Control:267										
121454	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Breen G et al. 1999	10402509	-141 C del/ins			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	British		KGB	1813	Hs.73893			American journal of medical genetics. 1999 Aug;88(4):407-10	-141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population.		126450	2154	1	1999												
121449	Y	reduced dopamine D2 receptor binding	OTHER	OTH		11	11q23	DRD2	112785526	112851091		Thompson J et al. 1997	9429233				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Pharmacogenetics. 1997 Dec;7(6):479-84	D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele.		126450	2149	1	1997												
121446	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11q23	DRD2	112785526	112851091	n	Lu RB et al. 1996	8679787				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Taiwanese	Taiwan	KGB	1813	Hs.73893			Biological psychiatry. 1996 Mar;39(6):419-29	No association between alcoholism and multiple polymorphisms at the dopamine D2 receptor gene (DRD2) in three distinct Taiwanese populations.		126450	2146	1	1996	We conclude that  no association exists between genetic variation at the DRD2 locus and alcoholism in Chinese Han, Atayal, and Ami males.											
121428		Tourette syndrome	PSYCH	PSY	Tourette Syndrome	11	11q23	DRD2	112785526	112851091		Nothen MM et al. 1994	7810582				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			American journal of medical genetics. 1994 Sep;54(3):249-52	Association analysis of the dopamine D2 receptor gene in Tourette's syndrome using the haplotype relative risk method.		126450	2128	1	1994												
121421	N	depression	PSYCH	PSY	Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Chen TJ et al. 2002	12422061				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Neuropsychobiology. 2002 ;46(3):141-4	Association analysis of two dopamine D2 receptor gene polymorphisms and p300 event-related potential in depressive patients.		126450	2121	1	2002	The results demonstrate that neither polymorphism is associated with P300 amplitude or latency, even after gender analysis. We suggest that these two DRD2 polymorphisms have no major effects on P300 components for the Chinese population. The association between the DRD2 polymorphism and P300 components may depend on ethnicity, the psychiatric state of the subjects, or the investigative paradigms used.	Cohort 105 patients diagnosed with major depression										
121418	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Dubertret C et al. 2001	11343878				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Schizophrenia research. 2001 Apr;49(2-Jan):203-12	Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients.		126450	2118	1	2001	As the haplotype contains nearly the entire DRD2 gene, we found convergent evidence in our sample for a significant role of the DRD2 gene in the risk for schizophrenia. This haplotype may be more specifically involved in the disorder's onset at a later age in some patients, or, alternatively, may be implicated as a modifying factor acting on age of onset.	Control:100:parents;Control:50 healthy, matched controls;Case:50 patients diagnosed with schizophrenia										
121406		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Stress Disorders, Post-Traumatic	11	11q23	DRD2	112785526	112851091		Young RM et al. 2002	12217937	A1 allele			Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Alcohol and alcoholism (Oxford, Oxfordshire). 2002 Sep-Oct;37(5):451-6	Harmful drinking in military veterans with post-traumatic stress disorder: association with the D2 dopamine receptor A1 allele.		126450	2106	1	2002	 The DRD2 A1 allele was associated with PTSD. However, this association was found only in the harmful drinkers. PTSD patients with the A1(+) allele consumed more alcohol than patients with the A1(-) allele. The importance of determining alcohol consumption in DRD2 association studies with PTSD is suggested.											
121389	Y	smoking	OTHER	OTH	Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Bierut LJ et al. 2000	10710227				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893	smoking		American journal of medical genetics. 2000 Feb;90(4):299-302	Family-based study of the association of the dopamine D2 receptor gene (DRD2) with habitual smoking.		126450	2089	1	2000												
121386	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Arinami T et al. 1994	7907680				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			KGB	1813	Hs.73893			Lancet. 1994 Mar;343(8899):703-4	Association of dopamine D2 receptor molecular variant with schizophrenia.		126450	2086	1	1994												
121596	Y	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Nanko S et al. 1993	8225313				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Human genetics. 1993 Oct;92(4):336-8	A study of the association between schizophrenia and the dopamine D3 receptor gene.		126451	2225	1	1993												
121591	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589	n	Saha N et al. 1994	7712115				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		KGB	1814	Hs.121478			Psychiatric genetics. 1994 ;4(4):201-4	Lack of association of the dopamine D3 receptor gene polymorphism (BalI) in Chinese schizophrenic males.		126451	2220	1	1994												
121587	Y	opiate dependence	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	3	3q13.3	DRD3	115330246	115380589		Duaux E et al. 1998	9702742				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3		France	KGB	1814	Hs.121478			Molecular psychiatry. 1998 Jul;3(4):333-6	Homozygosity at the dopamine D3 receptor gene is associated with opiate dependence.		126451	2216	1	1998												
121583		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Tanaka T et al. 1996	8837704				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1996 Jul;67(4):366-8	Association study between schizophrenia and dopamine D3 receptor gene polymorphism.		126451	2212	1	1996												
121574	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	3	3q13.3	DRD3	115330246	115380589	n	Parsian A et al. 1997	9184311				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			American journal of medical genetics. 1997 May;74(3):281-5	No association between polymorphisms in the human dopamine D3 and D4 receptors genes and alcoholism.		126451	2203	1	1997												
121569	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	3	3q13.3	DRD3	115330246	115380589	n	Wang J et al. 2001	11425949				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Chinese		KGB	1814	Hs.121478	motor fluctuations		Neurology. 2001 Jun;56(12):1757-9	Association study of dopamine D2 D3 receptor gene polymorphisms with motor fluctuations in PD.		126451	2198	1	2001	These findings suggest that DRD2 TaqIA polymorphism may be associated with an increased risk for developing motor fluctuations in PD.	Cohort Parkinson's disease patients										
121552		schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Macciardi F et al. 1994	7860086				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			KGB	1814	Hs.121478			Human heredity. 1994 Nov-Dec;44(6):328-36	An association study between schizophrenia and the dopamine receptor genes DRD3 and DRD4 using haplotype relative risk.		126451	2181	1	1994												
121781		clozapine, response to	PHARMACOGENOMIC	PHARM	Schizophrenia	11	11p15.5	DRD4	627304	630703		Zhao, A. L.  et al. 2005	16223700				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDPinfo	1815	Hs.99922			The International journal of neuroscience. 2005 Nov;115(11):1539-47	Dopamine D4 receptor gene exon III polymorphism and interindividual variation in response to clozapine.		126452	10215	2	2005												
121731	N	dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703	n	Marino C 2003	14505070				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		Italy	KGB	1815	Hs.99922			European child & adolescent psychiatry. 2003 Aug;12(4):198-202	No evidence for association and linkage disequilibrium between dyslexia and markers of four dopamine-related genes.		126452	2297	1	2003												
121725	Y	major psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Cognition Disorders|Bipolar Disorder|Psychotic Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703	0.004	Serretti A et al. 1999	10478793			coding sequence	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian (Caucasian)		Serretti	1815	Hs.99922			Schizophrenia bulletin. 1999 ;25(3):609-18	Genetic variants of dopamine receptor D4 and psychopathology		126452	2290	1	1999		Case:major psychosis: 461										
121714		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Mochi M et al. 2003	12624717				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Neurological sciences. 2003 Feb;23(6):301-5	A genetic association study of migraine with dopamine receptor 4 dopamine transporter and dopamine-beta-hydroxylase genes.		126452	2279	1	2003	Our data iYdicate that MO, but Yot MA, shows sigYificaYt geYetic associatioY with DRD4.	Control:117:controls;Case:93/101 individuals with migraine with aura (n=93) and with migraine without aura (n=101)										
121710	Y	Novelty Seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Ronai Z et al. 2001	11244482			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 2001 Jan;6(1):35-8	Association between Novelty Seeking and the -521 C/T polymorphism in the promoter region of the DRD4 gene.		126452	2275	1	2001	We found a weak association between NS and CC vs CT or TT genotypes (P < 0.06). Examination of this relation in male and female sex groups, however, strengthened the association for females (P < 0.01), but showed no genotypic effect for males.	Cohort 109 healthy Hungarian volunteers Hungary										
121694	N	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703	n	Gebhardt C et al. 2000	11204349				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Psychiatric genetics. 2000 Sep;10(3):131-7	Non-association of dopamine D4 and D2 receptor genes with personality in healthy individuals.		126452	2259	1	2000												
121688		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703		Ishiguro H et al. 2000	10776673				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Alcoholism, clinical and experimental research. 2000 Mar;24(3):343-7	Association study between genetic polymorphisms in the 14-3-3 eta chain and dopamine D4 receptor genes and alcoholism.		126452	2253	1	2000	 YWHAH and DRD4 do not appear to play a major role in the development of alcoholism.											
121687	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Swanson JM et al. 1998	9491811				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			KGB	1815	Hs.99922			Molecular psychiatry. 1998 Jan;3(1):38-41	Association of the dopamine receptor D4 (DRD4) gene with a refined phenotype of attention deficit hyperactivity disorder (ADHD): a family-based approach.		126452	2252	1	1998												
121880	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	X	Xq22	DRP2	100361640	100402573	n	Nakata K 2003	12951196				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1		Japan	KGB	1821	Hs.159291			Neuroscience letters. 2003 Oct;349(3):171-4	No association between the dihydropyrimidinase-related protein 2 (DRP-2) gene and bipolar disorder in humans.		300052	2313	1	2003	The present study did not provide any evidence for a contribution of the DRP-2 gene to susceptibility to BPD.	Case Japanese bipola disorder cases;Control:controls										
121893	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	X	Xq22.3	TSC22D3	106843107	106905858		Sugawara, F.  et al. 2001	11688842				TSC22 domain family, member 3				CDC GDPinfo	1831	Hs.522074			Internal medicine (Tokyo, Japan). 2001 Oct;40(10):993-7	Human TSC-22 gene: no association with type 2diabetes		602960	20030	2	2001	 It is unlikely that the TSC-22 gene is a locus responsible for type 2 diabetes.	Case patients with type 2 diabetes;Control non-diabetic control subjects										
121926		blood pressure	CARDIOVASCULAR	CARD	Obesity|Stress	6	6p24.1	EDN1	12398644	12404763		Treiber FA 2003	12963677				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			KGB	1906	Hs.511899			Hypertension. 2003 Oct;42(4):494-9	Endothelin-1 gene Lys198Asn polymorphism and blood pressure reactivity.		131240	2331	1	2003	In conclusion, the findings point out the importance of examining the impact of genetic polymorphisms on blood pressure control phenotypes within the context of potentiating environmental factors.	Cohort 161/213 black (n=161) and white (n=213) American normotensive young adults (mean age, 18.5+/-2.7 years)										
121987	N	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q25	EGF	111053498	111152868		Anttila, S.  et al. 2004	15129177				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Finnish		CDC GDPinfo	1950	Hs.419815			Neuroreport. 2004 May;15(7):1215-8	Association of EGF polymorphism with schizophrenia in Finnish men.		131530	10247	2	2004	The G allele was also associated with a later age at onset in male patients with schizophrenia. However, no association was found between treatment response and EGF polymorphism.	Case:94 patients with schizopreniaa who had either responded to treatment with conventional neuroleptics or who were considered non-responders;Control:98 blood donors										
122008	Y	brain cancer	CANCER	CAN	Astrocytoma|Glioblastoma	7	7p12	EGFR	55054218	55242525		Wiencke, J. K.  et al. 2005	16030116				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3		San Francisco	CDC GDPinfo	1956	Hs.488293			Cancer epidemiology, biomarkers & prevention. 2005 Jul;14(7):1774-83	Molecular features of adult glioma associated with patient race/ethnicity, age, and a polymorphism in O6-methylguanine-DNA-methyltransferase.		131550	10259	2	2005	 Our results are consistent with ethnic variation in glioma pathogenesis. The data on MGMT show that an inherited factor involving the repair of methylation and other alkylation damage, specifically to the O6 position of guanine, may be associated with the development of tumors that proceed in their development without TP53 mutations or accumulation of TP53 protein and possibly also those that do not involve amplification of the EGFR locus.											
122090	Y	autism spectrum disorder	PSYCH	PSY	Genetic Predisposition to Disease|Asperger Syndrome|Autistic Disorder	7	7q36	EN2	154943584	154950287	0.0009	Gharani N 2004	15024396	rs1861972 and rs1861973		other	Engrailed homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001427.2			KGB	2020	Hs.134989	cerebellar patterning		Molecular psychiatry. 2004 May;9(5):474-84	Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder.		131310	2352	1	2004		Case:138 triads, 167 small nuclear ASD pedigrees										
122123	Y	hereditary hemolytic anemia.	OTHER	OTH	Anemia, Hemolytic	15	15q15-q21	EPB42	41276719	41300773		Hayette S et al. 1995	7803799				Erythrocyte membrane protein band 4.2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000119.1		Portugal	KGB	2038	Hs.368642			Blood. 1995 Jan;85(1):250-6	A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.		177070	2357	1	1995												
122203		macular degeneration	VISION	VIS	Macular Degeneration	1	1q42.1	EPHX1	224064453	224099884		Kimura, K.  et al. 2000	11124296				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			American journal of ophthalmology. 2000 Dec;130(6):769-73	Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration		132810	21231	2	2000	 The results suggest that manganese superoxide dismutase gene polymorphism is associated with exudative age-related macular degeneration. Microsomal epoxide hydrolase is another enzyme that may be associated with the disease. The exudative form of age-related macular degeneration may have genetic risk factors against oxidative stress and/or effects of xenobiotics. Further association studies in other polymorphic genes for xenobiotic-metabolizing enzymes are needed to elucidate the environmental-genetic interaction in the underlying cause of age-related macular degeneration.	Case:102 patients with the exudative form of age-related macular degeneration who were recruited in the Kagoshima University Hospital.:Japanese between 1993 and 1998;Control:200 systemically healthy individuals who had no senescent ocular disorders and were over 50 years of age.										
122244	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	8	8p21-p12	EPHX2	27404561	27458403		Farin, F. M.  et al. 2001	11692079				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			CDC GDPinfo	2053	Hs.212088			Pharmacogenetics. 2001 Nov;11(8):703-8	Genetic polymorphisms of microsomal and soluble epoxide hydrolase and the risk of Parkinson's disease		132811	21240	2	2001	Common polymorphisms within EPHX1 and EPHX2 do not appear to be important risk factors for Parkinson's disease.	Case:133 idiopathic Parkinson's disease patients;Control:212 control subjects matched on age, gender and:ethnicity										
122239	N	Asthma	IMMUNE	IMM	Asthma	8	8p21-p12	EPHX2	27404561	27458403	n	Unoki M 2000	10830912	A1590C			Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4	Japanese	Japan	KCB	2053	Hs.212088			Human genetics. 2000 Apr;106(4):440-6			132811	2381	1	2000												
122272	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Tayeb, M. T.  et al. 2004	15083213				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Saudi medical journal. 2004 Apr;25(4):447-51	Vitamin D receptor, HER-2 polymorphisms and risk of prostate cancer in men with benign prostate hyperplasia		164870	14723	2	2004	 This study shows that the VDR TaqI polymorphism is associated with a group of men with BPH who are at an increase risk of PRCa, providing a potential tool to assist prediction strategies for this important disease.	Case:28 patients who presented with prostate cancer at least 6 years after the diagnosis of benign prostatic hyperplasia;Control:56 matched patients with benign prostatic hyperplasia who did not progress to prostate cancer										
122267		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Cox, D. G.  et al. 2005	15970791	HER2 I655V			V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDPinfo	2064	Hs.446352			Pharmacogenetics and genomics. 2005 Jul;15(7):447-50	The erbB2/HER2/neu receptor polymorphism Ile655Val and breast cancer risk.		164870	10346	2	2005	We conclude that  this polymorphism is not associated with an increase in breast cancer risk, and may in fact be associated with a modest decrease in risk.											
122262		breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Pinto, D.  et al. 2004	15167216				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Portugal	CDC GDPinfo	2064	Hs.446352			European journal of cancer prevention. 2004 Jun;13(3):177-81	HER2 polymorphism and breast cancer risk in Portugal		164870	10341	2	2004	Our results indicate an association between the presence of the Val allele in the HER2 polymorphism and the risk of breast cancer. Further studies are needed to evaluate the role of this polymorphism in the behaviour of breast cancer.	Control:146 healthy controls;Case:152 breast cancer patients										
122253	Y	breast cancer recurrence	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Neoplasm Recurrence, Local|	17	17q11.2-q12	HER2	35097918	35138441		Carr JA et al. 2000	11115354				v-erb-b2 erythroblastic leukemia viral oncogene homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005862			KGB	2064	Hs.446352			Archives of surgery (Chicago, Ill :  1960). 2000 Dec;135(12):1469-74	The association of HER-2/neu amplification with breast cancer recurrence.		164870	2391	1	2000	 The HER-2/neu oncogene is an independent prognostic indicator of a subset of breast cancers that are at high risk of early recurrence, regardless of tumor grade, estrogen/progesterone receptor status, and lymph node status. Patients amplifying the HER-2/neu oncogene have a shorter disease-free survival than patients without the oncogene.											
122289	N	testicular cancer	CANCER	CAN	Testicular Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Laska, M. J.  et al. 2005	15885892				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1		Denmark	CDC GDPinfo	2067	Hs.435981			Cancer letters. 2005 Jul;225(2):245-51	Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.		126380	10360	2	2005	To our knowledge this is the first study of DNA repair gene polymorphisms and risk of testicular cancer.	Case:184 testicular cancer cases Copenhagen Greater Area in Denmark;Control:194 population-based controls										
122286	Y	lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Zhou, W.  et al. 2005	15734977				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDPinfo	2067	Hs.435981			Cancer epidemiology, biomarkers & prevention. 2005 Feb;14(2):491-6	Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer.		126380	10357	2	2005	In conclusion, ERCC1 8092C > A polymorphism may modify the associations between cumulative cigarette smoking and lung cancer risk.	Control:1,358:controls;Case:1,752 Caucasian lung cancer patients	smoking (tobacco)									
122282		cytogenetic studies	OTHER	OTH	Neoplasms|Xeroderma Pigmentosum	19	19q13.2-q13.3	ERCC1	50604711	50673926		Matullo, G.  et al. 2003	12869411				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1		Italy	CDC GDPinfo	2067	Hs.435981			Cancer epidemiology, biomarkers & prevention. 2003 Jul;12(7):674-7	Combination of DNA repair gene single nucleotide polymorphisms and increased levels of DNA adducts in a population-based study.		126380	10352	2	2003	Our study suggests that the combined effect of multiple variant alleles may be more important than the investigation of single SNP in modulating DNA repair capacity.	Cohort 628 Italian healthy individuals belonging to the prospective European project "European Prospective Investigation into Cancer and Nutrition." 										
122345		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Popanda, O.  et al. 2004	15333465				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDPinfo	2068	Hs.487294			Carcinogenesis. 2004 Dec;25(12):2433-41	Specific combinations of DNA repair gene variants and increased risk for non-small cell lung cancer		126340	21246	2	2004	These results indicate that lung cancer risk is only moderately increased by single DNA repair gene variants investigated but it is considerably enhanced by specific combinations of variant alleles. Analyses of additional DNA repair gene interactions in larger population-based studies are warranted for identification of high risk subjects.	Control:460 tumor-free hospital controls;Case:463 lung cancer cases (among them 204 adenocarcinoma and 212 squamous cell carcinoma)										
122392		colorectal cancer; colorectal polyps	CANCER	CAN	Adenoma|Colorectal Neoplasms|Colonic Polyps|Genetic Predisposition to Disease|Hyperplasia	13	13q22	ERCC5	102249399	102326346		Bigler, J.  et al. 2005	16284370				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDPinfo	2073	Hs.258429			Cancer epidemiology, biomarkers & prevention. 2005 Nov;14(11 Pt 1):2501-8	DNA repair polymorphisms and risk of colorectal adenomatous or hyperplastic polyps.		133530	21269	2	2005			smoking (tobacco)									
122495		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.1	ESR1	152053407	152466099			16317584				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDPinfo	2099	Hs.208124			Breast cancer research and treatment. 2005	Microsatellite profile in hormonal receptor genes associated with breast cancer		133430	21279	2	2005												
122417	N	Itai-itai disease	OTHER	OTH	Cadmium Poisoning	6	6q25.1	ESR1	152053407	152466099	n	Nishio H et al. 1999	10650924				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Japan	KGB	2099	Hs.208124			Archives of toxicology. 1999 Nov;73(9-Aug):496-8	Itai-itai disease is not associated with polymorphisms of the estrogen receptor alpha gene.		133430	2408	1	1999	We conclude that  RFLPs of the ERalpha gene may not be associated with itai-itai disease.											
122410	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6q25.1	ESR1	152053407	152466099	n	Maruyama H 2000	10681083	Enhancer activity of the Eralpha gene at intron 1 and exon 2			Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese		KGB	2099	Hs.208124			Archives of neurology. 2000 Feb;57(2):236-40			133430	2401	1	2000	 Regulatory element of the ERalpha gene was found in intron 1, but we found no association between ERalpha gene polymorphisms and AD.											
122551	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Westberg, L.  et al. 2004	15219649				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		Sweden	CDC GDPinfo	2100	Hs.443150			Psychoneuroendocrinology. 2004 Sep;29(8):993-8	Association between the estrogen receptor beta gene and age of onset of Parkinson's disease.		601663	16548	2	2004	In conclusion, our results indicate that genetic variation in the estrogen receptor beta gene may influence the age of onset of PD.	Case:260 patients with Parkinson's disease:Sweden;Control:308:controls										
122547		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Maguire, P.  et al. 2005	16261413				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDPinfo	2100	Hs.443150			Breast cancer research and treatment. 2005 Nov;94(2):145-52	Estrogen Receptor Beta (ESR2) Polymorphisms in Familial and Sporadic Breast Cancer.		601663	10438	2	2005												
122529	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	14	14q	ESR2	63763503	63875021	n	Kealey C et al. 2001	11807414				estrogen receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209620			KGB	2100	Hs.443150			Psychiatr Genet	No evidence to support an association between the oestrogen receptor beta gene and bipolar disorder.		601663	2447	1	2001												
122590		osteochondromas	METABOLIC	MET	Exostoses, Multiple Hereditary	11	11p12-p11	EXT2	44073674	44223556		Vink, G. R.  et al. 2004	15586175				Exostoses (multiple) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000401.2			CDC GDPinfo	2132	Hs.368404			European journal of human genetics. 2005 Apr;13(4):470-4	Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations andexonic deletions account for more than half of the mutations.		608210	21308	2	2004	In patients suspected to be affected by MO, we recommend a quantitative analysis such as MLPA, followed by direct sequence analysis for the screening of the EXT1 and EXT2 genes.	Cohort 35 patients with multiple osteochondromas 										
122671	Y	bilateral iliac vein thrombosis	CARDIOVASCULAR	CARD	Thrombosis	11	11p11-q12	F2	46697330	46717631		Vaya A et al. 2001	11728531				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			KGB	2147	Hs.410092			Thrombosis research. 2001 Nov;104(4):293-6	Homozygous 20210G/A prothrombin gene mutation associated with bilateral iliac vein thrombosis: a case report.		176930	2466	1	2001												
122666	Y	venous thromboembolism	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Coen D et al. 2001	11471205				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Croatia	KGB	2147	Hs.410092			Croatian medical journal. 2001 Aug;42(4):488-92	Prevalence and association of the factor V Leiden and prothrombin G20210A in healthy subjects and patients with venous thromboembolism.		176930	2461	1	2001	 The prevalences of factor V Leiden and PT20210A in analyzed population of VTE patients are higher than in the group of healthy subjects. High frequency of association between both mutations supports the need to perform simultaneous genetic analyses of factor V Leiden and PT20210A in all VTE patients.											
122829	N	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q23	F5	167747815	167822393		Boekholdt, S. M.  et al. 2001	11748101				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDPinfo	2153	Hs.30054			Circulation. 2001 Dec;104(25):3063-8	Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: a systematic review.		227400	21339	2	2001	 Associations between these genetic variations and myocardial infarction were weak or absent. In the absence of clinical implications, our results indicate that screening of patients with myocardial infarction for these genetic variations is not warranted.											
122594	Y	Heterozygous factor XI deficiency	OTHER	OTH	Factor XI Deficiency	4	4q35	F11	187424111	187447829		Mitchell M et al. 1999	10606881				Coagulation factor XI (plasma thromboplastin antecedent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_019559			KGB	2160	Hs.1430			British journal of haematology. 1999 Dec;107(4):763-5	Heterozygous factor XI deficiency associated with three novel mutations.		264900	2533	1	1999												
122624	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Saibeni, S.  et al. 2003	12725605	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Italian		CDC GDPinfo	2162	Hs.335513			Digestive and liver disease. 2003 Jan;35(1):32-6	Val34Leu factor XIII polymorphism in Italian patients with inflammatory bowel disease		134570	10463	2	2003	 The present data do not show any differences in Val34Leu Factor XIII polymorphism distribution between inflammatory bowel disease patients and controls. The prothrombotic state described in inflammatory bowel disease patients does not depend on an altered distribution of Val34Leu Factor XIII polymorphism.	Case:90/62 patients with ulcerative colitis (n=90) and with Crohn's disease (n= 62)										
122619		peripheral arterial disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Venous Thrombosis|Peripheral Vascular Diseases	6	6p25.3-p24.3	F13A1	6089309	6265923		Renner, W.  et al. 2002	11941274	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Austria	CDC GDPinfo	2162	Hs.335513			International angiology. 2002 Mar;21(1):53-7	The V34L polymorphism of factor XIII and peripheral arterial disease		134570	10458	2	2002	 We conclude that the F13A1 V34L polymorphism was not associated with the presence of PAD in our study, but may be linked to a later onset of the disease.	Control:523 controls without vascular disease;Case:873 patients with documented peripheral arterial:disease										
131012		asthma	IMMUNE	IMM		11	11q13	MS4A2	59612712	59622592		Cui, T.  et al. 2003	12903039				Membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Chinese		CDC GDPinfo	2206	Hs.386748			Zhonghua yi xue yi chuan xue za zhi. 2003 Aug;20(4):307-10	[Study on the high-affinity IgE receptor beta gene polymorphism and its association with the susceptibility to allergic asthma in Han nationality of Hubei province]		147138	12521	2	2003	 These data suggested that the Gly237Gly genotype of the Fc epsilon RI beta gene conferred genetic susceptibility to allergic asthma in Chinese, which affected the total plasma IgE levels in the allergic asthma patients. And a homozygosity for the -109T allele was associated with increased total plasma IgE.	Case allergic asthma patients Hubei province, China;Control healthy controls										
139543	Y	transcriptional inactivation of the FHIT gene	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms	3	3p14.2	FHIT	59710075	61212164		Tanaka H et al. 1998	9699676				Nasopharyngeal carcinoma, down-regulated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1			KGB	2272	Hs.196981			Cancer research. 1998 Aug;58(15):3429-34	Methylation of the 5' CpG island of the FHIT gene is closely associated with transcriptional inactivation in esophageal squamous cell carcinomas.		601153	7050	1	1998												
123501	Y	insulin resistance	METABOLIC	MET	Insulin Resistance	16	16q22-16q24	FOXC2	85158442	85159948		Ridderstrale M et al. 2002	12453913			promoter	Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1			KGB	2303	Hs.436448			Diabetes. 2002 Dec;51(12):3554-60	FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance.		602402	2693	1	2002												
123516	N	insulin resistance	METABOLIC	MET	Insulin Resistance	13	13q14.1	FOXO1A	40027816	40138734		Giampieri C 2004	14980718				Forkhead box O1A (rhabdomyosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015.2	Italian	Italy	KGB	2308	Hs.370666			Gene. 2004 Mar;327(2):215-9	A novel mitochondrial DNA-like sequence insertion polymorphism in Intron I of the FOXO1A gene.		136533	2696	1	2004												
123464		autism	PSYCH	PSY	Autistic Disorder	X	Xq27.3	FMR1	146801200	146840303		Vincent, J. B.  et al. 2004	14755444				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDPinfo	2332	Hs.103183			American journal of medical genetics Part B, Neuropsychiatric genetics. 2004 Feb;125(1):54-6	Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.		309550	16726	2	2004	We have established that the variant is significantly more frequent among East Asian individuals within our affected and control groups (P < 0.0001) and although we observed a trend of higher transmission frequency of the rare allele to affected individuals, there was no significant evidence in either family-based or case/control association studies for this variant in autism (P > 0.05).	Case:136 autism families;Control:186 control individuals										
123487		folate; hyperhomocystinemia	OTHER	OTH	Hyperhomocysteinemia	11	11p11.2	FOLH1	49124762	49186798		Devlin, A. M.  et al. 2000	11092759				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDPinfo	2346	Hs.380325			Human molecular genetics. 2000 Nov;9(19):2837-44	Glutamate carboxypeptidase II: a polymorphismassociated with lower levels of serum folate and hyperhomocysteinemia.		600934	16737	2	2000	These data suggest that the presence of the H475Y GCPII allele impairs the intestinal absorption of dietary folates, resulting in relatively low blood folate levels and consequent hyperhomocysteinemia.	Cohort 75 healthy Caucasian population 										
123496	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	FOS	74815283	74818665	n	Dai XY et al. 1996	9014232				v-fos FBJ murine osteosarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005252.2			KGB	2353	Hs.25647			Psychiatry and clinical neurosciences. 1996 Dec;50(6):331-3	No association between c-fos gene polymorphisms and sporadic Alzheimer's disease.		164810	2711	1	1996												
123610	Y	haemolytic anaemia	OTHER	OTH	Anemia, Hemolytic|Glucosephosphate Dehydrogenase Deficiency|Favism|Favism	X	Xq28	G6PD	153412799	153428981		Zarza R et al. 1997	9332310				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			KGB	2539	Hs.461047			British journal of haematology. 1997 Sep;98(3):578-82	Two new mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene associated with haemolytic anaemia: clinical biochemical and molecular relationships.		305900	2731	1	1997												
123811	Y	Graves disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101		Pani MA et al. 2002	12050214				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036030			KGB	2638	Hs.418497			The Journal of clinical endocrinology and metabolism. 2002 Jun;87(6):2564-7	A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis.		139200	2789	1	2002												
123807		COPD	OTHER	OTH	Lung Diseases, Obstructive|alpha 1-Antitrypsin Deficiency|Genetic Predisposition to Disease	4	4q12-q13	GC	72826274	72890101		Schellenberg D 1998	9517617				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			KGB	2638	Hs.418497			American journal of respiratory and critical care medicine. 1998 Mar;157(3 Pt 1):957-61	Vitamin D binding protein variants and the risk of COPD.		139200	2785	1	1998												
123841	Y	hypertension; renal sodium handling	CARDIOVASCULAR	CARD	Hypertension	17	17q25	GCGR	2320462	2330377		Strazzullo, P.  et al. 2001	11692154				Glucagon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000160			CDC GDPinfo	2642	Hs.208			Journal of molecular medicine (Berlin, Germany). 2001 Oct;79(10):574-80	Altered renal sodium handling and hypertension in men carrying the glucagon receptor gene (Gly40Ser) variant		138033	16885	2	2001	We conclude that  the Gly40Ser polymorphism of the GCGR gene is associated with higher risk of hypertension and with enhanced proximal tubular sodium reabsorption, a factor possibly contributing to hypertension in this group.	Cohort 971 Olivetti Heart Study participants 										
123928		breast cancer	CANCER	CAN	Breast Neoplasms	5	5p13-p12	GHR	42459782	42757683			16381017				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDPinfo	2690	Hs.125180			International journal of cancer Journal international du cancer. 2005	Polymorphisms in the growth hormone receptor: Acase-control study in breast cancer		600946	10817	2	2005												
124024		tuberculosis	INFECTION	INF		6	6p21.3-p21.1	GLO1	38751679	38778930		Tarskaia, L. A.  et al. 2002	11963573				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDPinfo	2739	Hs.268849			Genetika. 2002 Mar;38(3):426-9	[Genetic polymorphism of erythrocytic enzymes in Yakut populations]		138750	24475	2	2002	The allelic frequencies of the polymorphic systems	Cohort Yakut populations 										
124231	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1p34-p33	GRIK3	37039200	37272431		Lai, I. C.  et al. 2005	15897672				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2	Chinese		CDC GDPinfo	2899	Hs.2389			Neuropsychobiology. 2005 ;51(4):211-3	No association between the ionotropic glutamate receptor kainate 3 gene ser310ala polymorphism and schizophrenia.		138243	10885	2	2005	Our study indicated that there was no association between this polymorphism and schizophrenia, at least in Chinese.	Control:160 healthy controls;Case:160 Chinese schizophrenic patients										
124293	Y	schizophrenia	PSYCH	PSY	Chromosome Fragility|Translocation, Genetic|Schizophrenia	11	11q14.3	GRM5	87880625	88438761		Devon RS et al. 1997	9460801				glutamate receptor, metabotropic 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=D28539			KGB	2915	Hs.567281			Psychiatr Genet	Physical mapping of a glutamate receptor gene in relation to a balanced translocation associated with schizophrenia in a large Scottish family.			2959	1	1997												
124543		cholesterol; cholesterol, HDL; triglycerides; diabetes, type 2; ulcerative colitis; cholesterol, LDL; liver disease;	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Chowbay, B.  et al. 2005	15931768				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Drug metabolism reviews. 2005 ;37(2):327-78	An interethnic comparison of polymorphisms of the genes encoding drug-metabolizing enzymes and drug transporters: experience in Singapore.		138350	26886	2	2005	All the proteins we studied represent the primary hepatic or extrahepatic enzymes, and their polymorphic expression may be implicated in disease risk and the disposition of drugs or endogenous substances. As such, dose requirements of certain drugs may not be optimal for Asian populations, and a second look at the factors responsible for this difference is necessary.	Cohort 110 individuals from three distinct Asian populations in Singapore, namely the Chinese, Malays, and Indians 										
124530		Hodgkin's disease; non-Hodgkin's lymphoma	CANCER	CAN	Hodgkin Disease|Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Sarmanova, J.  et al. 2001	11406608				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Human molecular genetics. 2001 Jun;10(12):1265-73	Genetic polymorphisms of biotransformation enzymes in patients with Hodgkin's and non-Hodgkin's lymphomas.		138350	26043	2	2001	The results suggest that genetic polymorphisms of biotransformation enzymes may play a significant role in the development of lymphoid malignancies.	Case:219 patients with morbus Hodgkin (MH) and non-Hodgkin's:lymphomas (NHL);Control:455 age- and sex-matched healthy individuals										
124523		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Nan, H. M.  et al. 2005	15991278				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			World journal of gastroenterology. 2005 Jul;11(25):3834-41	Effects of dietary intake and genetic factors on hypermethylation of the hMLH1 gene promoter in gastric cancer.		138350	26036	2	2005	 These results suggest that cigarette smoking and alcohol consumption may influence the development of hMLH1-positive gastric cancer. Most dietary factors and polymorphisms of GSTM1, GSTT1, CYP1A1, CYP2E1, ALDH2, and L-myc genes are not independent risk factors for gastric cancer with hypermethylation of the hMLH1 promoter. These data also suggest that there could be two or more different molecular pathways in the development of gastric cancer, perhaps involving tumor suppression mechanisms or DNA mismatch repair.		alcohol diet smoking (tobacco)									
124512		1-hydroxypyrene, urinary; DNA adducts, aromatic; mutagenicity, urinary	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Kuljukka-Rabb, T.  et al. 2002	11859435				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Journal of exposure analysis and environmental epidemiology. 2002 Jan-Feb;12(1):81-91	The effect of relevant genotypes on PAH exposure-related biomarkers.		138350	24506	2	2002	Our study shows that a comprehensive assessment of exposure is essential for elucidation of PAH exposure at a workplace. Even at high exposures metabolic polymorphisms seem to have some effect on biomarker levels, and should be assessed in biomonitoring studies	Cohort coke oven workers ;Control controls not specified	smoking (tobacco)									
124506		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		De Jong, D. J.  et al. 2003	12631667				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Gut. 2003 Apr;52(4):547-51	Genetic polymorphisms in biotransformation enzymes in Crohn's disease: association with microsomalepoxide hydrolase.		138350	24500	2	2003	 Microsomal epoxide hydrolase may play a role in the pathophysiology of Crohn's disease. Furthermore, the epoxide hydrolase gene is located on chromosome 1q, close to a region previously linked to Crohn's disease.	Control:149 healthy control;Case:151 patients with Crohn's disease										
124494		leukemia/lymphoma, T-Cell	CANCER	CAN	Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Disease Progression|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Tsukasaki, K.  et al. 2001	11325850				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer research. 2001 May;61(9):3770-4	Tumor necrosis factor alpha polymorphism associated with increased susceptibility to development of adult T-cell leukemia/lymphoma in human T-lymphotropic virus type 1 carriers.		138350	24488	2	2001	Genetic polymorphism leading to increased TNF-alpha production may enhance susceptibility to ATL among HTLV-1 carriers. Alternatively, but less likely, the HLA loci might be an important factor because the TNF-alpha gene lies within the class III region of the MHC; however, the 857T allele is not in linkage disequilibrium with HLA alleles associated with ATL development.	Case:71 adult T-cell leukemia/lymphoma patients;Control:80 healthy HTLV-carriers										
124492		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Van Der Logt, E. M.  et al. 2004	15319294				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Carcinogenesis. 2004 Dec;25(12):2407-15	Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk.		138350	21611	2	2004	In conclusion, these data suggest that the presence of variant UGT1A6 and UGT1A7 genotypes with expected reduced enzyme activities, might enhance susceptibility to CRC.	Case:371 Caucasian patients with sporadic colorectal cancer;Control:415 healthy controls										
124489		liver disease, alcoholic	OTHER	OTH	Liver Diseases, Alcoholic|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Brind, A. M.  et al. 2004	15525789				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Alcohol and alcoholism (Oxford, Oxfordshire). 2004 Nov-Dec;39(6):478-83	The role of polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and A1 in susceptibility to alcoholic liver disease.		138350	21608	2	2004	 We have failed to demonstrate within the limitation of a case-control study a reproducible significant association of GST polymorphisms with susceptibility to ALD but there are suggestions that GSTA1 and GSTT1 warrant further study.	Control normal local controls;Case alcohol-related chronic liver disease patients North Staffordshire, Birmingham and Liverpool										
124485		sister-chromatid exchanges	UNKNOWN	UNK	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Lei, Y.  et al. 2002	12160895				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Mutation research. 2002 Aug;519(2-Jan):93-101	Effects on sister chromatid exchange frequency of polymorphisms in DNA repair gene XRCC1 in smokers.		138350	21604	2	2002	Our results support previous epidemiological studies that XRCC1 may play a role in cigarette smoking-induced lung cancer.	Cohort 61 workers without significant exposure to mutagens were recruited. Questionnaires were completed to obtain detailed occupational, smoking, and medical histories. SCE frequency in periphe 	smoking (tobacco)									
124480		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		To-Figueras, J.  et al. 2002	12359356				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Cancer letters. 2002 Dec;187(2-Jan):95-101	Microsomal epoxide hydrolase and glutathione S-transferase polymorphisms in relation to laryngeal carcinoma risk.		138350	21599	2	2002	These results on larynx cancer tend to confirm a former study on lung cancer (Cancer Lett. 173 (2001) 155) suggesting the existence of an interaction between variants of EH and GSTpi, both enzymes being involved in the metabolism of aromatic hydrocarbons, that may increase susceptibility to tobacco-related cancers.	Control:203 healthy controls;Case:204 patients with larynx cancer										
124476		leukemia; leukemia, myelodysplastic (TRLIMDS)	CANCER	CAN	Leukemia|Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Myelodysplastic Syndromes	1	1p13.3	GSTM1	110031964	110037890		Naoe T  et al. 2000	11051261				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese	Japan	CDC GDPinfo	2944	Hs.301961			Clinical cancer research. 2000 Oct;6(10):4091-5	Analysis of genetic polymorphism in NQO1, GST-M1, GST-T1, and CYP3A4 in 469 Japanese patients with therapy-related leukemia/ myelodysplastic syndrome and de novo acute myeloid leukemia.		138350	21595	2	2000	the NQOJ polymorphism is significantly associated with the genetic risk of TRLIMDS.	Control:150/411 150 controls (unspecified) and 411 patients with de novo acute myeloid leukemia (AML);Case:58 patients with TRL/MDS										
124464		psoriasis	IMMUNE	IMM	Psoriasis	1	1p13.3	GSTM1	110031964	110037890		Richter-Hintz, D.  et al. 2003	12713578				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			The Journal of investigative dermatology. 2003 May;120(5):765-70	Allelic variants of drug metabolizing enzymes as risk factors in psoriasis.		138350	21583	2	2003	This is the first large-scale study on these enzymes and the results obtained support the concept that different activities of metabolizing enzymes can contribute to disease etiology and progression.	Control:235:controls;Case:327 Caucasian psoriasis patients										
124455		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Shao, G.  et al. 2000	11860825				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua liu xing bing xue za zhi. 2000 Dec;21(6):420-3	[Relationship between CYP1A1, GSTM1 genetic polymorphisms and susceptibility to esophageal squamous cell carcinoma]		138350	21574	2	2000	 It was suggested that: genetic polymorphisms of CYP1A1 and GSTM1 were susceptible to esophageal cancer; individuals who are GSTM1-null have an increased risk of developing esophageal cancer; individuals with combined CYP1A1 (I/I) and GSTM1 (-) or with combined CYP1A1 (I/V, V/V) and GSTM1 (+) were more susceptible, when comparing to those with combined CYP1A1 (I/I) and GSTM1 (+).	Case:107 esophageal cancer patients;Control:111 healthy controls										
124442		CYP1A1 levels in lung tissue	METABOLIC	MET	Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Anttila, S.  et al. 2001	11505220				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2001 Aug;11(6):501-9	CYP1A1 levels in lung tissue of tobacco smokers and polymorphisms of CYP1A1 and aromatic hydrocarbon receptor.		138350	21561	2	2001	Our results thus indicate that the interindividual variation of CYP1A1 levels in smokers' lung tissue is not attributable to genetic polymorphisms of CYP1A1 or AHR tested in this study.	Cohort 73 active smokers 	smoking (tobacco)									
124428		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890			16395669				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Human mutation. 2006 Feb;27(2):187-94	Validation of the use of DNA pools and primer extension in association studies of sporadic colorectal cancer for selection of candidate SNPs		138350	17057	2	2006	We conclude that  instead of looking for single risk factors, investigators should examine individual combinations of potential risk factors to clarify the genetic predisposition to CRC.											
124423	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Wikman, H.  et al. 2002	11927838				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Pharmacogenetics. 2002 Apr;12(3):227-33	N-Acetyltransferase genotypes as modifiers of diisocyanate exposure-associated asthma risk.		138350	17038	2	2002	The results suggest for the first time that in addition to GSTs, the NATs play an important role in inception of asthmatic reactions related to occupational exposure to diisocyanates.	Case:109 exposed workers with diisocyanate-induced asthma;Control:73 exposed workers with no symptoms of asthma										
124417	N	cytogenetic studies	OTHER	OTH	Chromosome Disorders|Chromosomal Instability	1	1p13.3	GSTM1	110031964	110037890		Waksmanski, B.  et al. 2003	14669454				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Ginekologia polska. 2003 Oct;74(10):1415-20	[Manifestation of glutathione S-transferase GSTM1 and GSTT1 in female patients with bleomycin-positive chromosome instability]		138350	17026	2	2003	 No relationship between the manifestation of genotypes for the GSTM1 and GSTT1 glutathione S-transferases and an increased chromosome instability confirmed with the bleomycin test was proven for a population of females with a neoplastic risk.	Cohort 85 females with chromosome instability 										
124414		head and neck cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Yang, J.  et al. 2003	12579490				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Zhonghua yi xue yi chuan xue za zhi. 2003 Feb;20(1):11-Sep	[Frequencies distribution of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations]		138350	17023	2	2003	 The frequencies of GSTT1 and GSTM1 null genotypes in 24 Yunnan populations were different, but they were almost the same in different districts of Yunnan.	Cohort 24 Yunnan populations China 										
124397	Y	lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p13.3	GSTM1	110031964	110037890		Chiu, B. C.  et al. 2005	15725081				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			British journal of haematology. 2005 Mar;128(5):610-5	Association of NAT and GST polymorphisms with non-Hodgkin's lymphoma: a population-basedcase-control study.		138350	10978	2	2005	In summary, although NAT1, NAT2, GSTM1, GSTT1, or GSTP1 polymorphisms do not appear to be associated with NHL risk overall, there might be gender-specific and subtype-specific associations that require confirmation.	Case:389 non-Hodgkin's lymphoma cases;Control:535 population-based controls										
124377	N	asthma	IMMUNE	IMM	Asthma	1	1p13.3	GSTM1	110031964	110037890		Freidin, M. B.  et al. 2002	12173466				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Siberia	CDC GDPinfo	2944	Hs.301961			Molekuliarnaia biologiia. 2002 Jul-Aug;36(4):630-4	[Polymorphism of the theta1 and mu1 glutathione s-transferase genes (GSTT1, GSTM1) in patients with atopic bronchial asthma from the West Siberian region]		138350	10919	2	2002	No association was observed for GST and BA severity. Thus, the GST null alleles proved to be unimportant for BA.	Control:57 healthy individuals;Case:69 patients with atopic bronchial asthma Tomsk, West Siberia										
124344	Y	thimerosal sensitization	IMMUNE	IMM	Drug Hypersensitivity	1	1p13.3	GSTM1	110031964	110037890	p=0.013	Westphal GA et al. 2000	11007341	GSTM1 and GSTT2 deletions	loss of function	block deletion	Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasians		KGB	2944	Hs.301961			International archives of occupational and environmental health. 2000 Aug;73(6):384-8	Homozygous gene deletions of the glutathione S-transferases M1 and T1 are associated with thimerosal sensitization.		138350	2976	1	2000	 Since the glutathione-dependent system was repeatedly shown to be involved in the metabolism of thimerosal decomposition products, the observed association may be of functional relevance.	Case:91; Control:169										
124580		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Skuladottir, H.  et al. 2005	15829318				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3		Denmark|Norway	CDC GDPinfo	2947	Hs.2006			Lung cancer (Amsterdam, Netherlands). 2005 May;48(2):187-99	Polymorphisms in genes involved in xenobiotic metabolism and lung cancer risk under the age of 60 years. A pooled study of lung cancer patients in Denmark and Norway.		138390	24517	2	2005	Based on the literature, the alleles of the genotypes were categorised as high- or low-risk alleles. No individual effect of the genotypes was found on the risk of lung cancer. Given a smoking exposure, the presence of high-risk alleles (or phenotypes) was generally found to increase the risk of lung cancer, although the effect modification did not reach statistical significance. A pattern of stronger protective effect was observed in carriers of more than one allele associated with lower risk of lung cancer, and a higher risk of lung cancer in carriers of one or more alleles associated with higher risk of lung cancer, but the results did not reach statistical significance. The effect modification was generally strongest at lower levels of smoking.	Case:320 patients diagnosed with non-small cell lung cancer at age 59 or below;Control:618 age and gender matched controls	smoking (tobacco)									
125003		schizophrenia	PSYCH	PSY	Myotonic Dystrophy|Friedreich Ataxia|Muscular Atrophy, Spinal|Fragile X Syndrome|Genetic Predisposition to Disease|Schizophrenia	4	4p16.3	HD	3046205	3215485		Culjkovic, B.  et al. 2000	11121205				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDPinfo	3064	Hs.518450			American journal of medical genetics. 2000 Dec;96(6):884-7	Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.		143100	27925	2	2000	The data presented here provide further support for the association between schizophrenia and CAG repeat number polymorphism in SCA1 gene. The significant increase of the mean number of CAG repeats in schizophrenics was found also in the MJD1/SCA3 gene.	Case:55 patients with schizophrenia (53 females, 2 males);Control:72 control subjects who were free of psychiatric disease and without family history of psychosis or NEUROLOGICALenerative disorders (35 males and 37:females)										
125090	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	6	6p21.3	HFE	26195487	26205036		Robinson, J. P.  et al. 2005	15941956				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Cancer epidemiology, biomarkers & prevention. 2005 Jun;14(6):1460-3	Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.		235200	19820	2	2005										N		
125088		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression	6	6p21.3	HFE	26195487	26205036		Bonkovsky, H. L.  et al. 2002	12445428				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Journal of hepatology. 2002 Dec;37(6):848-54	Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C.		235200	19818	2	2002	 Hepatic iron and HFE mutations are comorbid factors that increase development and progression of chronic hepatitis C.	Control:controls;Case:119 consecutive patients with chronic hepatitis C										
125079		hemochromatosis	METABOLIC	MET	Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Kelleher, T.  et al. 2004	15223008				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Blood cells, molecules & diseases. 2004 Jul-Aug;33(1):35-9	DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis.		235200	19462	2	2004	 Polymorphisms within DMT1 gene do not influence penetrance of the HH phenotype.	Cohort ;Case:101 unrelated C282Y homozygotes;Control:103 C282Y negative controls										
125077		liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms	6	6p21.3	HFE	26195487	26205036		Shi, W. J.  et al. 2005	16174459				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Zhonghua gan zang bing za zhi. 2005 Sep;13(9):682-4	[Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B]		235200	17149	2	2005	 The mutation of C282Y may be related with susceptibility to HCC after chronic hepatitis B. This outcome suggests that host HFE mutation may be an important factor related to the pathogenesis of HCC.											
125056	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Hemochromatosis|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Rasmussen, M. L.  et al. 2001	11257277				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDPinfo	3077	Hs.233325			Atherosclerosis. 2001 Feb;154(3):739-46	A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: theAtherosclerosis Risk in Communities (ARIC) study.		235200	17127	2	2001	Our prospective findings suggest that individuals carrying the HFE C282Y mutation may be at increased risk of CHD.	Case:243 CHD patients:Cohort:535 non-CHD patients	smoking (tobacco)									
125042		ischaemic heart disease	CARDIOVASCULAR	CARD	Myocardial Ischemia|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Campbell S 2003	12923017				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410		Scotland	KGB	3077	Hs.233325			Heart (British Cardiac Society). 2003 Sep;89(9):1023-6	The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease.		235200	3098	1	2003	 The C282Y homozygote and heterozygote prevalences are among the highest reported worldwide. No association between IHD or MI and HFE genotype was identified. However, these results need to be interpreted in the light of the cross sectional case-control nature of the study.											
125354		IgA, IgD, IgG, IgM	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Marroni, F.  et al. 2004	15361126				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Italian		CDC GDPinfo	3106	Hs.77961			Tissue antigens. 2004 Oct;64(4):478-85	Microgeographic variation of HLA-A, -B, and -DR haplotype frequencies in Tuscany, Italy:implications for recruitment of bone marrow donors.		142830	21783	2	2004	A considerable level of heterogeneity of haplotype frequency was present among subsamples; this heterogeneity was associated to a large variation (up to 4-fold) of the number of new donors that must be typed in order to reach 50% chance of finding an HLA-A, -B phenotype of intermediate frequency. Knowledge of the genetic structure of the population at a microgeographic level may be useful in directing the search of specific bone marrow donors.	Cohort 2,355 bone marrow donors a subregion of Tuscany (Italy) 										
125349		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Translocation, Genetic	6	6p21.3	HLA-B	31344507	31432914		Mundhada, S.  et al. 2004	15202948				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDPinfo	3106	Hs.77961			BMC cancer [electronic resource]. 2004 Jun;4:25	Association of HLA Class I and Class II genes with bcr-abl transcripts in leukemia patients with t(9;22) (q34;q11)		142830	21778	2	2004	 The negative associations of a particular bcr-abl transcript with specific HLA alleles suggests that these alleles play a critical role in presenting peptides derived from the chimeric proteins and eliciting a successful T-cell cytotoxic response. Knowledge of differential associations between HLA phenotypes and bcr-abl fusion transcript types would help in developing better strategies for immunization with the bcr-abl peptides against t(9;22) (q34;q11)-positive leukemia.	Cohort 189 patients of mixed ethnicity with chronic myelogenous leukemia and acute lymphocytic leukemia who were being considered for bone marrow transplantation 										
125346		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lombardi, M. L.  et al. 2001	11423176				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2001 Jul;62(7):701-4	Crohn disease: susceptibility and diseaseheterogeneity revealed by HLA genotyping.		142857	21775	2	2001	A positive association with the rare haplotype DRB1*07, DQB1*0303, and a protective effect of the haplotype DRB1*03, DQB1*0201, were found in Crohn's disease patients. Variability of the HLA alleles frequency in CD subgroups was observed, supporting the hypothesis of a genetic heterogeneity of the disease and suggesting that HLA alleles distribution in selected groups may allow to identify patients with probably different prognosis or associated complications.	Cohort 107 patients with Crohn's disease 										
125303		pemphigus	IMMUNE	IMM	Pemphigus	6	6p21.3	HLA-B	31344507	31432914		Miyagawa, S.  et al. 2002	11841366				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese		CDC GDPinfo	3106	Hs.77961			The British journal of dermatology. 2002 Jan;146(1):52-8	Genotyping for HLA-A, B and C alleles in Japanese patients with pemphigus: prevalence of Asianalleles of the HLA-B15 family.		142830	21732	2	2002	 These results suggest that there may be differences in the ethnic concentrations of different HLA-B alleles in patients with PV.	Control normal controls subjects;Case:51 Japanese patients with pemphigus										
125247	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Park, S. H.  et al. 2002	12068141				Major histocompatibility complex, class I, B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Korean	Korea	CDC GDPinfo	3106	Hs.77961			Journal of Korean medical science. 2002 Jun;17(3):366-70	Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease.		142830	11041	2	2002	In conclusion, MICA*A6 rather than HLA-B51 was strongly associated with Korean patients with BD, and the MICA*A6 allele is a useful susceptibility marker of BD, especially in the HLA-B5-negative	Case:108 Korean Behcet's disease patients;Control:204 healthy controls										
125439		sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-DPB1	33151737	33162954		Rossman, M. D.  et al. 2003	14508706				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		United States	CDC GDPinfo	3115	Hs.485130			American journal of human genetics. 2003 Oct;73(4):720-35	HLA-DRB1*1101: A Significant Risk Factor forSarcoidosis in Blacks and Whites		142858	17481	2	2003	These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.	Control:706 controls were case matched for age, race, sex, and geographic area;Case:736 biopsy-confirmed sarcoidosis cases enrolled in the Etiologic Study of Sarcoidosis:US										
125433		beryllium disease	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Maier, L. A.  et al. 2003	14662898				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Journal of immunology (Baltimore, Md :  1950). 2003 Dec;171(12):6910-8	Influence of MHC class II in susceptibility to beryllium sensitization and chronic beryllium disease.		142858	17383	2	2003	We conclude that  DPB1 Glu69 is a marker of sensitization and not specific for disease. Glu(69) homozygosity acts as a functional marker associated with markers of CBD severity.	Control:125 beryllium-exposed nondiseased individuals;Case:50/104 beryllium disease (n=104) and beryllium:sensitizated (n=50) individuals										
125426		scleroderma	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	HLA-DPB1	33151737	33162954		Gilchrist, F. C.  et al. 2001	11393660				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Great Britain	CDC GDPinfo	3115	Hs.485130			Genes and immunity. 2001 Apr;2(2):76-81	Class II HLA associations with autoantibodies in scleroderma: a highly significant role for HLA-DP.		142858	17335	2	2001	We have identified a significant association between the ATA and HLA-DPB1*1301 which may provide an insight into how this autoantibody is formed. Patient clinical characteristics depend on the autoantibodies they carry.	Case:202 scleroderma patients;Control:307 UK control subjects										
125421		Hodgkin's disease	CANCER	CAN	Epstein-Barr Virus Infections|Hodgkin Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Alexander, F. E.  et al. 2001	11401923				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Cancer epidemiology, biomarkers & prevention. 2001 Jun;10(6):705-9	Epstein-Barr Virus and HLA-DPB1-*0301 in young adult Hodgkin's disease: evidence for inheritedsusceptibility to Epstein-Barr Virus in cases that are EBV(+ve).		142858	17225	2	2001	Although these results are based on small numbers of HD cases, they provide suggestive evidence that the etiology of EBV(+ve) HD may involve inherited susceptibility to EBV.	Cohort 118 a population-based case series of HD, diagnosed in patients between 16-24 years of age in the United Kingdom, of whom 87% were classified by EBV status (EBV(+ve), 19, EBV(-ve), 84) 	Epstein-Barr virus									
125418	Y	silicosis	IMMUNE	IMM	Silicosis	6	6p21.3	HLA-DPB1	33151737	33162954		Ueki, A.  et al. 2005	15703453				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDPinfo	3115	Hs.485130			Journal of occupational health. 2005 Jan;47(1):61-7	Anti-caspase-8 autoantibody response in silicosis patients is associated with HLA-DRB1, DQB1 and DPB1 alleles.		142858	11237	2	2005	Repeated and continuous screening of autoantibodies seems to be necessary among workers in contact with Si-related substances for the detection of immunological disorders in the early stage.	Control:controls;Case silicosis patients	anti-caspase-8 autoantibody response									
125415		retinopathy, diabetic	UNKNOWN	UNK		6	6p21.3	HLA-DPB1	33151737	33162954		Fu, Y.  et al. 2003	12694588				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese		CDC GDPinfo	3115	Hs.485130			Tissue antigens. 2003 Feb;61(2):179-83	HLA-DRB1, DQB1 and DPB1 polymorphism in the Naxi ethnic group of South-western China.		142858	11207	2	2003	The distribution characteristics of the HLA class II alleles revealed that the Naxi ethnic group belonged to the Southern group of Chinese.	Cohort unrelated healthy volunteers from the Naxi ethnic group South-western China 										
125408	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Cruz, T. D.  et al. 2004	15277401				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4		Puerto Rico|California|Colorado	CDC GDPinfo	3115	Hs.485130			Diabetes. 2004 Aug;53(8):2158-63	DPB1 Alleles Are Associated With Type 1 Diabetes Susceptibility in Multiple Ethnic Groups		142858	11084	2	2004	These results suggest that the observed DPB1 associations, especially that of the DPB1*0301 allele, with type 1 diabetes are likely to be true associations. This supports the concept that multiple genes in the HLA region can affect type 1 diabetes susceptibility.	Case Puerto Rican type 1 diabetic cases;Control:controls										
125684		Plasmodium falciparum infection	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Migot-Nabias, F.  et al. 2001	11294566				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Gabon	CDC GDPinfo	3117	Hs.387679			Genes and immunity. 2001 Feb;2(1):10-Apr	HLA alleles in relation to specific immunity to liver stage antigen-1 from plasmodium falciparum in Gabon.		146880	26129	2	2001	These results suggest a degree of genetic regulation of specific immune responses by HLA-A, operating at the pre-erythrocytic stage of development of P. falciparum in this Central African population.	Cohort 229 Gabonese children 										
125682		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Yang, S.  et al. 2004	15245541				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Chinese		CDC GDPinfo	3117	Hs.387679			Clinical and experimental dermatology. 2004 Jul;29(4):399-405	Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans.		146880	26127	2	2004	To summarize, this study demonstrated a differential association of HLA and identified some special risk haplotypes in Chinese patients with PV compared with other ethnic or racial populations.	Case:138 Chinese Han patients with psoriasis vulgaris;Control:149 normal control subjects										
125656		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Mbanya, J. C.  et al. 2001	11532022				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Cameroon	CDC GDPinfo	3117	Hs.387679			European journal of immunogenetics. 2001 Aug;28(4):459-62	HLA-DRB1, -DQA1, -DQB1 and DPB1 susceptibility alleles in Cameroonian type 1 diabetes patients and controls.		146880	21834	2	2001	the data in Cameroonian diabetes patients suggest the existence of HLA class II predisposing and specific protective markers, but do not support previous reports of a primary association between HLA-DP polymorphism and development of type I diabetes.	Case:10 unrelated C-peptide negative patients with type 1:diabetes:Cameroon;Control:90 controls from a homogeneous population of rural:Cameroon										
125636		hepatitis type 1, autoimmune (AIH-1)	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Goldberg, A. C.  et al. 2001	11182227				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Human immunology. 2001 Feb;62(2):165-9	Analysis of HLA haplotypes in autoimmune hepatitis type 1: identifying the major susceptibility locus.		146880	17469	2	2001	We propose that peptide presentation leading to pathogenesis of AIH-1 may be quite stringent, but will also be affected by other strong genetic or environmental susceptibility factors, which would explain the various HLA molecules associated to the disease in the different populations.	Control:22:controls;Case:39 patients with autoimmune hepatitis type I										
125624		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	6	6p21.3	HLA-DQA1	32713160	32722817		Decochez, K.  et al. 2005	15756536				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetologia. 2005 Apr;48(4):687-94	Combined positivity for HLA DQ2/DQ8 and IA-2 antibodies defines population at high risk of developing type 1 diabetes.		146880	17314	2	2005	These observations suggest that the HLA-DQ-inferred risk of diabetes can proceed through two distinct pathways distinguished by IA-2A status. Combined positivity for DQ2/DQ8 and IA-2A defines a more homogeneous high-risk population for prevention trials than those used so far.	Case:4,589 first-degree relatives of type 1 diabetic patients under age 40;Control:790 non-diabetic controls										
125615		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Laivoranta-Nyman, S.  et al. 2004	15479890				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Finnish	Finland	CDC GDPinfo	3117	Hs.387679			Annals of the rheumatic diseases. 2004 Nov;63(11):1406-12	HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis.		146880	17305	2	2004	 When assessing the influence of HLA genes on the susceptibility to rheumatoid arthritis, not only should the HLA-DR or -DQ alleles or haplotypes be unravelled but also the genotype. The effect of HLA class II region genes is more complicated than any of the existing hypotheses can explain.	Control:1,244 artificial family based control haplotypes;Case:322 Finnish patients with rheumatoid arthritis										
125600	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Shinomiya, N.  et al. 2004	15003812				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Japan	CDC GDPinfo	3117	Hs.387679			Clinical immunology (Orlando, Fla). 2004 Feb;110(2):154-8	A variant of childhood-onset myasthenia gravis: HLAtyping and clinical characteristics in Japan		146880	17290	2	2004	These date suggest that LG type of MG may present a particular subset of childhood-onset MG, which is associated with the specific HLA subtypes DRB1*1302/DQA1*0102/DQB1*0604 and DRB1*0901/DQA1*0301/DQB1*0303.	Control healthy controls;Case:87 Japanese patients with childhood-onset myasthenia:gravis:Japan										
125593		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Klitz, W.  et al. 2003	12974796				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	European American		CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2003 Oct;62(4):296-307	New HLA haplotype frequency reference standards:high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans.		146880	17283	2	2003	The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans.	Cohort 1,899 unrelated European American individuals 										
125580		multiple sclerosis; diabetes, type 1	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Lobnig, B. M.  et al. 2002	12149602				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Diabetes & metabolism. 2002 Jun;28(3):217-21	HLA-patterns in patients with multiple sclerosis and type I diabetes mellitus: evidence for possiblemutual exclusion of both diseases		146880	17268	2	2002	 These data confirm the hypothesis of mutually exclusive HLA-patterns of T1DM and MS, and are consistent with a low rate of co-morbidity of both diseases.	Case:33 German patients with type 1 diabetes and multiple:sclerosis;Control:33 German patients with multiple sclerosis only										
125573	N	gastrointestinal cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Perri, F.  et al. 2002	11972882				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian	Italy	CDC GDPinfo	3117	Hs.387679			Tissue antigens. 2002 Jan;59(1):55-7	HLA-DQA1 and -DQB1 genes and Helicobacter pylori infection in Italian patients with gastric adenocarcinoma		146880	17261	2	2002	Neither anatomical location and histological type of cancer nor the presence of lymph node or distant metastases were significantly associated with specific HLA-DQA1 or -DQB1 alleles or H. pylori infection. Both HLA-DQA1 and -DQB1 genes have a minor, if any, role in H. pylori infection and gastric carcinogenesis.	Case:50 patients with gastric adenocarcinoma;Control:80/179 patients with colonic adenocarcinoma (N=80) and healthy subjects (n=179)	Helicobacter pylori									
125555	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Rasmussen, H. B.  et al. 2001	11424637				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Multiple sclerosis (Houndmills, Basingstoke, England). 2001 Apr;7(2):91-3	Additive effect of the HLA-DR15 haplotype on susceptibility to multiple sclerosis.		146880	17241	2	2001	Our results suggested that the effect of the DRB1*1501,DQA1*0102,DQB1*0602 haplotype on the susceptibility to MS is additive, perhaps reflecting that development of the disease is facilitated by a high density surface expression of the antigen presenting molecules encoded by this haplotype. Possible implications of our finding to future studies of the genetic background of MS is discussed.	studies three North European studies 										
125552		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Sumnik, Z.  et al. 2000	11195230				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Czech	Czech Republic	CDC GDPinfo	3117	Hs.387679			Acta Paediatr. 2000 Dec;89(12):1426-30	HLA-DQA1*05-DQB1*0201 positivity predisposes to coeliac disease in Czech diabetic children		146880	17238	2	2000	 The high prevalence of CD (4.1%) found in Czech children with IDDM emphasizes the need for their regular screening. We suggest that this CD screening protocol may be individualized according to the DQA1*05-DQB1*0201 positivity.	Cohort 345 children with IDDM (186 boys and 159 girls, aged 0 to 18 y) 										
125536		diabetes, type 2	METABOLIC	MET		6	6p21.3	HLA-DQA1	32713160	32722817		Yang, H.  et al. 2005	16331578				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):702-4	[Association between the polymorphism of HLA-DQA1 alleles and type 2 diabetes in Yi nationality of Yunnan.]		146880	11167	2	2005	 In Yi nationality of Yunnan, HLA-DQA1*0301 allele may be a susceptible gene and the HLA-DQA1*0601 allele may protect individuals from the risk of diabetes mellitus.											
125524	Y	warts	UNKNOWN	UNK	Papillomavirus Infections|Warts|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Spelten, B.  et al. 2004	15257408				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Archives of dermatological research. 2004 Aug;296(3):105-11	Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts.		146880	11150	2	2004	These results suggest that the natural history of cutaneous HPV 2/27/57-induced common warts may be modulated by allele polymorphisms at the HLA-DQA1 and HLA-DQB1 gene loci.	Case:71 patients presenting with HPV 2/27/57-induced common warts which had persisted for at least 18 months;Control:92 individuals who had never suffered from common warts or whose warts had healed in less than 18:months										
125520		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Vidales, M. C.  et al. 2004	15120190				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Spanish	Spain	CDC GDPinfo	3117	Hs.387679			Human immunology. 2004 Apr;65(4):352-8	Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain.		146880	11146	2	2004	This percentage coincides with figures reported in previous studies, implying the effect of other genes in the development of CD.	Cohort 136 unrelated children diagnosed with celiac disease Guipuzcoa, Spain 										
125509	Y	thyroid autoimmunity	UNKNOWN	UNK	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	6	6p21.3	HLA-DQA1	32713160	32722817		Sumnik, Z.  et al. 2003	12948297				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Poland	CDC GDPinfo	3117	Hs.387679			Journal of pediatric endocrinology & metabolism. 2003 Jul-Aug;16(6):851-8	HLA-DQ polymorphisms modify the risk of thyroid autoimmunity in children with type 1 diabetes mellitus.		146880	11134	2	2003	 HLA-DQ polymorphisms significantly modify the risk of TAI in children with DM1.	Cohort 285 children with type 1 diabetes mellitus 										
125487	Y	endometriosis; adenomyosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Zong, L.  et al. 2002	11836687				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDPinfo	3117	Hs.387679			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):49-51	[Comparative study of HLA-DQA1 and HLA-DRB1 allele in patients with endometriosis and adenomyosis]		146880	11108	2	2002	 The results indicate that HLA-DQA1*0301 and *0401 alleles are associated with both endometriosis and adenomyosis, and there is perhaps common mechanism involved in both endometriosis and adenomyosis based on HLA-DQA1 and HLA-DRB1 allele frequencies.	Control:44 normal individuals;Case:45 cases of adenomyosis;Case:51 cases of endometriosis										
126136		preeclampsia	REPRODUCTION	REP	Pregnancy Complications, Infectious|Cytomegalovirus Infections|Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Carreiras, M.  et al. 2002	12443029				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			American journal of reproductive immunology (New York, NY :  1989). 2002 Sep;48(3):176-83	Preeclampsia: a multifactorial disease resultingfrom the interaction of the feto-maternal HLA genotype and HCMV infection.		604305	24680	2	2002	 The results suggest that the presence of alleles HLA-G*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of preeclampsia.	Case mothers with preeclampsia and their neonates;Control mothers with a normal history of pregnancies and their neonates	human cytomegalo virus									
126123		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Windsor, L.  et al. 2005	15858601				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2005 Jun;6(4):298-304	Does a central MHC gene in linkage disequilibrium with HLA-DRB1*0401 affect susceptibility to type 1 diabetes?		604305	24667	2	2005	Here, alleles characteristic of the 62.1AH (C4B3, IKBL+446(*)T and HLA-A2,B15) were screened in donors preselected for HLA-DRB1(*)0401. C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II. However, increases in carriage of IKBL+446(*)T and HLA-A2,B15 were marginal, as too few control subjects were available with the diabetogenic alleles. However, with these tools, selection of HLA-DRB1(*)0401, DQB1(*)0302 donors who are positive and negative for C4B3 will allow bidirectional mapping of diabetes genes in the central MHC.	Cohort individuals from a largely Caucasian cohort from Western Australia 										
126121		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum	6	6p21.3	HLA-DQB1	32735641	32742374		Shankarkumar, U.  et al. 2002	14686115				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Indian journal of malariology. 2002 Sep-Dec;39(4-Mar):76-82	HLA associations in P. falciparum malaria patients from Mumbai, western India		604305	24665	2	2002	These observations revealed the importance of ethnic background, which has to be taken into consideration while developing an ideal malaria vaccine. Further, when compared to HLA associations of other world populations the present study indicates the relative importance of different HLA alleles that may vary in different populations.	Control:101 normal sex, age, and ethnically matched controls;Case:171 severe P. falciparum malaria patients										
126108		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zipp, F.  et al. 2000	11082515				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Human immunology. 2000 Oct;61(10):1021-30	Multiple sclerosis associated amino acids of polymorphic regions relevant for the HLA antigen binding are confined to HLA-DR2.		604305	22040	2	2000	We found a significant association with disease for the appearance of proline at position 11, arginine at position 13, and alanine at position 71 of HLA-DRbeta1. Surprisingly, we identified only residues preferentially expressed in the MS group that were related to HLA-DR2. Thus, the contribution of HLA class II to the pathogenesis of MS is not mediated by allele-overlapping antigen binding sites, but is confined to the disease associated HLA allele	Control:210 unrelated controls;Case:66 unrelated multiple sclerosis patients										
126106		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Hoarau, J. J.  et al. 2003	12786999				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	African	India|Reunion	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2003 Jun;30(3):207-11	Comparison of TAP2 frequencies in type 1 diabetes patients and healthy controls from three ethnic groups indicates an African origin for the TAP2 G allele.		604305	22038	2	2003	This observation is consistent with the view that this allele is restricted to populations of African origin. In addition, we have determined the large extended haplotype DQA1-DQB1-DRB1 associated with TAP2 G. We found that this allele is preferentially associated with the large conserved haplotype HLA DQA1*0501-DQB1*0201-DRB1*0301.	Case type 1 diabetic patientsof three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius);Control unrelated healthy controls of three different ethnic groups (Caucasians, Indians and black Africans from Senegal and Mauritius)										
126099		Chagas Disease	INFECTION	INF	Chagas Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Moreno, M.  et al. 2004	15191519				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Jul;64(1):18-24	Chagas' disease susceptibility/resistance: linkagedisequilibrium analysis suggests epistasis between major histocompatibility complex and interleukin-10		604305	22031	2	2004	These results replicate previous analyses and suggest that presence of epistasis between MHC with humoral systems, such as IL-10, could be underlying the susceptibility/resistance to Chagas' disease.	Case:104 Chagas' disease patients;Control:60:controls										
126085		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hallioglu, O.  et al. 2005	15789899				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Turkish	Turkey	CDC GDPinfo	3119	Hs.409934			Clinical and experimental rheumatology. 2005 Jan-Feb;23(1):117-20	DRB1, DQA1, DQB1 genes in Turkish children with rheumatic fever.		604305	22017	2	2005	 Our data indicate that the HLA DQA1*03 allele may be a protecting factor in Turkish children with RF. Our results also suggest that the combination of the DRB1*04 and DQA1*03 alleles may be a stronger protective factor than the DQA1*03 allele alone.	Control:50 unrelated healthy controls;Case:55 children with rheumatic fever:Turkey										
126082		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gillespie, K. M.  et al. 2004	15530631				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Lancet. 2004 Nov;364(9446):1699-700	The rising incidence of childhood type 1 diabetes and reduced contribution of high-risk HLA haplotypes.		604305	22014	2	2004	The proportion of high-risk susceptibility genotypes was increased in the earlier cohort (p=0.003), especially in those diagnosed at age 5 years or younger, which is consistent with the hypothesis that the rise of type 1 diabetes is due to a major environmental effect.	Case:194 type 1 diabetic patients diagnosed more than 50 years ago;Control:582 age-matched and sex-matched individuals										
126073		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kanga, U.  et al. 2004	14700595				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Human immunology. 2004 Jan;65(1):47-53	HLA haplotypes associated with type 1 diabetes mellitus in north indian children		604305	22005	2	2004	The study highlights the race specificity of HLA association and disease associated HLA haplotypes in T1DM among North Indian Children.	Control:controls;Case type 1 diabetic children North India										
126067		autoimmune polyglandular syndrome	IMMUNE	IMM	Graves Disease|Alopecia|Diabetes Mellitus, Type 1|Addison Disease|Polyendocrinopathies, Autoimmune|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wallaschofski, H.  et al. 2003	12734793				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Germany	CDC GDPinfo	3119	Hs.409934			Horm Metab Res. 2003 Feb;35(2):120-4	HLA-DQA1*0301-associated susceptibility for autoimmune polyglandular syndrome type II and III.		604305	21999	2	2003	Therefore, our results indicate an association between DQA1*0301 and APS II or III since this allele was otherwise not significantly associated with any of its component diseases except alopecia. Moreover, our data imply that the allele DQA1*0301 is a marker of increased risk for further APS manifestations in patients who suffer from an organ-specific autoimmune disease.	Case:112 unrelated patients with APS II (n = 29), APS III (n:= 83);Case:184 unrelated patients with single-component diseases;Control:72 healthy controls										
126038		renal disease, end stage	OTHER	OTH	Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Perez-Luque, E.  et al. 2000	11082516				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican	Mexico	CDC GDPinfo	3119	Hs.409934			Human immunology. 2000 Oct;61(10):1031-8	Contribution of HLA class II genes to end stage renal disease in mexican patients with type 2 diabetes mellitus.		604305	21970	2	2000	Diabetic patients with DRB1*1502 are 8.8 times more likely to develop ESRD, independently of the duration time of DM. DRB1*1502 contributes to the susceptibility to ESRD while DRB1*0407 is involved in protection. The residue at DRB1-74 differs in	Case:42 patients with end stage renal disease;Control:50/101 type 2 diabetes patients with no kidney complications (n=50) and normal controls (n=101)										
126029		hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	HLA-DQB1	32735641	32742374		Zang, G. Q.  et al. 2004	15237447				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			World journal of gastroenterology. 2004 Jul;10(14):2116-8	Curative effects of interferon-alpha and HLA-DRB1 -DQA1 and -DQB1 alleles in chronic viral hepatitis B.		604305	21961	2	2004	 Non-response to interferon-alpha therapy is positively correlated with HLA-DRB1*04 and HLA-DQA1*0303, and negatively correlated with HLA-DQA1*0505 and -DQB1*0301 in patient with chronic viral hepatitis B. HLA II genes of the identification alleles provide a method for evaluating outcome of interferon-alpha treatment.	Cohort 60 patients with chronic viral hepatitis B Shanghai 	interferon									
126016	N	arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Parthiban, M.  et al. 2002	12021152				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian	India	CDC GDPinfo	3119	Hs.409934			Annals of the New York Academy of Sciences. 2002 Apr;958:412-5	Class II MHC alleles in rheumatoid arthritis in Tamilnadu, India: is there an association?		604305	21948	2	2002	No allele was found to be significantly associated with RA. However DRB1*11 (P = 0.01) and DQB1*0302 (P = 0.02) were significantly associated with rheumatoid factor-positive RA patients. (All the DRB1*11-positive RA patients had either *04 or *10 allele as their second allele. This study is first of its kind in this population.	Case:30 patients with rheumatoid arthritis:Tamilnadu, India;Control:39 healthy controls										
125989	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wang, X. P.  et al. 2004	15109436				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Chinese medical journal. 2004 Apr;117(4):492-7	Association of HLA-DQB1 coding region with unexplained recurrent spontaneous abortion.		604305	21921	2	2004	 Our data suggest that URSA is associated with the HLA-DQB1 coding region, and is not associated with its upstream regulatory region. The DQB1 * 0604/0605, DQA1 * 01-DQB1 * 0604/0605, and QBP6.2-DQB1 * 0604/0605 haplotypes may confer susceptibility to URSA, while the DQB1 * 0501/0502 allele may protect women from URSA.	Case:32 patients with unexplained recurrent spontaneous:abortion;Control:54 women who had at least one successful pregnancy										
125983		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Diaz, N.  et al. 2003	12974555				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Chile	CDC GDPinfo	3119	Hs.409934			European journal of epidemiology. 2003 ;18(8):787-92	Incidence rate of type 1 diabetes in Santiago (Chile) by HLA-DQA1 and DQB1 genotypes.		604305	21915	2	2003	This study shows an application on how a transformation of the logistic equation based on Bayes' theorem can be used to estimate incidence rates from case-control studies and population-based incidence rates.	Control:125:controls;Case:57 type 1 diabetics recruited from the incidence study:Santiago, Chile:Cohort:61 incident cases of type 1 diabetes during 1 year:Santiago, Chile										
125977	N	gastrointestinal cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Perri, F.  et al. 2002	11972882				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Italy	CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2002 Jan;59(1):55-7	HLA-DQA1 and -DQB1 genes and Helicobacter pylori infection in Italian patients with gastric adenocarcinoma		604305	21909	2	2002	Neither anatomical location and histological type of cancer nor the presence of lymph node or distant metastases were significantly associated with specific HLA-DQA1 or -DQB1 alleles or H. pylori infection. Both HLA-DQA1 and -DQB1 genes have a minor, if any, role in H. pylori infection and gastric carcinogenesis.	Case:50 patients with gastric adenocarcinoma;Control:80/179 patients with colonic adenocarcinoma (N=80) and healthy subjects (n=179)	Helicobacter pylori									
125922		sporadic inclusion body myositis	OTHER	OTH	Myositis, Inclusion Body|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Price, P.  et al. 2004	15496200				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2004 Nov;64(5):575-80	Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an associationwith HLA-DR3.		604305	21854	2	2004	The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele.	Control:214 ethnically similar controls;Case:42 sporadic inclusion body myositis patients										
125909		Goodpasture's disease	RENAL	REN	Anti-Glomerular Basement Membrane Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Persson, U.  et al. 2004	15199166				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Sweden	CDC GDPinfo	3119	Hs.409934			Nephrology, dialysis, transplantation. 2004 Aug;19(8):2030-5	Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain.		604305	21841	2	2004	 This study effectively falsifies the hypothesis that a minor alteration in the COL4A3 gene could be a major factor in the aetiology of GP. Scandinavian GP patients have an MHC distribution similar to that which has been described previously for Anglo-Saxon patients.	Control:controls;Case:15 patients with Goodpasture's disease										
125906		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hohjoh, H.  et al. 2001	11285131				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Tissue antigens. 2001 Mar;57(3):230-5	Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.		604305	19926	2	2001	Results agreed with the negative association of DRB1*1502 and positive association of the TNF-alpha(-857T) and TNFR2-196R combination with the disorder. In addition, a significant association of the TNF-alpha(-857T) homozygote with the disorder and an increase in a rare haplotype carrying DRB1*1501 and TNF-alpha(-857T) in the patients were also observed in the present study.	Case narcoleptic patients;Control healthy individuals										
125902		leptospirosis	INFECTION	INF	Leptospirosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lingappa, J.  et al. 2004	15014429				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Genes and immunity. 2004 May;5(3):197-202	HLA-DQ6 and ingestion of contaminated water:possible gene-environment interaction in an outbreak of Leptospirosis.		604305	19900	2	2004	Based on these preliminary findings, we hypothesize a role for superantigens in leptospirosis and underscore the importance of outbreak investigations for understanding infectious disease gene-environment interactions.	Cohort 85 triathletes in a lake swim during a 1998 leptospirosis outbreak investigation 	leptospirosis									
125855	Y	drug hypersensitivity; asthma; rhinosinuitis, allergic fungal; sinusitis	METABOLIC	MET	Mycoses|Aspergillosis, Allergic Bronchopulmonary|Sinusitis|Rhinitis|Hypertrophy|Chronic Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Schubert, M. S.  et al. 2004	15577839				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			The Journal of allergy and clinical immunology. 2004 Dec;114(6):1376-83	HLA-DQB1 *03 in allergic fungal sinusitis and other chronic hypertrophic rhinosinusitis disorders		604305	17413	2	2004	 Patients with AFS and HSD have HLA-DQB1 *03 alleles as a risk factor for disease, with AFS having the highest association. However, they differ in DQB1 *03 allelic variant frequencies, suggesting several potential roles for MHC class II in their immunopathogenesis.	Control healthy subjects;Case:44/30 patients with allergic fungal rhinosinusitis (n=44) and hypertrophic sinus disease (n=30, of which 21 were atopic)										
125852		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Marrosu, M. G.  et al. 2004	15471889				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDPinfo	3119	Hs.409934			Human molecular genetics. 2004 Dec;13(23):2919-24	The co-inheritance of type 1 diabetes and multiple sclerosis in Sardinia cannot be explained by genotype variation in the HLA region alone.		604305	17410	2	2004	We conclude that  shared disease associations due to the HLA-DRB1-DQB1 loci provide only a partial explanation for the observed increased prevalence of T1D in Sardinian MS patients. The data suggest that variation at other non-HLA class II loci, and/or unknown environmental factors contribute significantly to the co-occurrence of these two traits.	Case:1,049 multiple sclerosis patients (n=1,049, 31 of whom also had type 1 diabetes) and type 1 diabetic:patients (n=1,052):Sardinia;Control:1,917 ethnically matced controls										
125839	Y	IgE response	IMMUNE	IMM	Hypersensitivity|Occupational Diseases	6	6p21.3	HLA-DQB1	32735641	32742374		Jones, M. G.  et al. 2004	15144476				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Clinical and experimental allergy. 2004 May;34(5):812-6	Association of HLA-DQ5 and HLA-DR1 with sensitization to organic acid anhydrides.		604305	17396	2	2004	 DQB1(*)05 gene confers susceptibility to develop specific IgE antibodies against HHPA, MHHPA and a non-significant trend with MTHPA. DQB1(*)0501 is protective for other low molecular chemical sensitizers (isocyanates and plicatic acid) which may indicate varying affinities for the corresponding specific class II molecules.	Case:52 cases who had confirmed specific IgE;Control:73 referents matched on site, age and duration of acid anhydride exposure identified in cross-sectional studies of workers exposed to hexahydrophthalic:(HHPA), methylhexahydrophthalic (MHHPA) and:methyltetrahydrophthalic (MTHPA) anhydrides	acid anhydrides									
125821		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Silverberg, M. S.  et al. 2003	12656131				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish	Canada	CDC GDPinfo	3119	Hs.409934			Inflammatory bowel diseases. 2003 Jan;9(1):9-Jan	A population- and family-based study of Canadian families reveals association of HLA DRB1*0103 with colonic involvement in inflammatory bowel disease.		604305	17372	2	2003	These data demonstrate the association of the HLA DRB1*0103 allele with both Crohn's disease and ulcerative colitis and with large intestine-restricted disease in non-Jewish IBD patients and therefore identify HLA DRB1*0103 as a potentially important contributor to disease susceptibility and to expression of colonic involvement in IBD.	Case:118 Caucasian inflammatory bowel disease sibling pair:families;Control:216 healthy controls		HLA-DRB1	*0103	HLA-DQB1	*0501			Y		"inflammatory bowel disease, Crohn's disease and ulcerative colitis "
125812	N	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.3	HLA-DQB1	32735641	32742374		Black, J. L. = 3rd et al. 2002	12405606				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Sleep. 2002 Nov;25(7):719-23	Search for neuron-specific and nonneuron-specific antibodies in narcoleptic patients with and without HLA DQB1*0602.		604305	17362	2	2002	 These results do not support the hypothesis that narcolepsy is an autoimmune disease. However, it is possible that the autoimmune attack is very selective and does not involve the epitopes measured in this study. Recent findings that the hypocretin neurotransmission system is involved in animal models of narcolepsy should lead to research to look for antibodies directed against components of the hypocretin neurotransmission system in narcolepsy.	Cohort 43 narcoleptic pateitns with and without cataplaxy 										
125809		arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Milicic, A.  et al. 2002	12233873				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Great Britain	CDC GDPinfo	3119	Hs.409934			The Journal of rheumatology. 2002 Sep;29(9):1821-6	HLA-DR/DQ haplotype in rheumatoid arthritis: novelallelic associations in UK Caucasians.		604305	17359	2	2002	 These data corroborate the shared epitope hypothesis of susceptibility to RA and provide strong evidence for the DRB1 locus as the primary RA susceptibility factor in the HLA region.	Control 2 large sets of historical, ethnically matched healthy controls;Case:685 patients with rheumatoid arthritis										
125797	Y	tuberculosis	METABOLIC	MET	Tuberculosis, Pulmonary|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQB1	32735641	32742374		Zhao, Y.  et al. 2001	11802942				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Zhonghua jie he he hu xi za zhi. 2001 Feb;24(2):75-9	[Analysis of the association between HLA-DRB(1), DQB(1) gene and pulmonary tuberculosis complicated with diabetes mellitus]		604305	17344	2	2001	 The results indicate that the DRB(1) * 09 allele is susceptive to the pulmonary tuberculosis complicated with type 2 diabetes mellitus, the DQB(1) * 05 may be protective to the pulmonary tuberculosis complicated with diabetes mellitus. The DRB(1) * 09 allele and DQB(1) * 05 allele may affect the incidence of the pulmonary tuberculosis complicated with type 2 diabetes mellitus, or real effect genes link with them.	Case:123 cases of pulmonary tuberculosis with type 2:diabetes;Control:45 type 2 diabetic cases;Control:46 normal subjects										
125793	Y	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lin, P.  et al. 2001	11588129				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Senegalese	Senegal	CDC GDPinfo	3119	Hs.409934			Cancer epidemiology, biomarkers & prevention. 2001 Oct;10(10):1037-45	HLA class II DR-DQ and increased risk of cervical cancer among Senegalese women.		604305	17339	2	2001	Observations from this study confirm earlier findings of a negative association between DRB1*13 and cervical cancer and suggest that specific DRB1-DQB1 haplotype combinations, rather than individual DQB1*03 alleles, increase the risk for cervical cancer.	Control:190 age-matched (human papillomavirus) HPV-positive (n = 83) and HPV-negative (n = 107) control women;Case:55 Sengalese women with invasive cervical carcinoma		HLA-DRB1	*1101	HLA-DQB1	*0301			Y		Cervical cancer among Senegalese women
125789		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Kupila, A.  et al. 2001	11317658				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Finland	CDC GDPinfo	3119	Hs.409934			Diabetologia. 2001 Mar;44(3):290-7	Feasibility of genetic and immunological prediction of type I diabetes in a population-based birth cohort.		604305	17333	2	2001	Population-based screening of genetic susceptibility for Type I diabetes, linked with a possibility to participate later in a prevention trial, is highly accepted in Finland and identifies about 75% of those developing diabetes at an early age. Families adhere well to the frequent measurement of signs of beta-cell autoimmunity in the children at-risk.	Cohort 31526 babies November 1994 and April 1999 										
125784		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ilonen, J.  et al. 2000	10998087				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish	Finland	CDC GDPinfo	3119	Hs.409934			European journal of immunogenetics. 2000 Aug;27(4):225-30	Geographical differences within Finland in the frequency of HLA-DQ genotypes associated with type 1 diabetes susceptibility. The Childhood Diabetes in Finland Study Group.		604305	17327	2	2000	The observed differences in genotype and allele frequencies demonstrate the heterogeneity for HLA alleles even in a population that is generally regarded as highly homogeneous. These differences also affect the sensitivity and efficiency of the screening programme used for identifying infants with genetic susceptibility to IDDM in the ongoing Finnish Diabetes Prediction and Prevention Study.	Control:24112 a series of 14 096 and 10 016 newborns collected from the same hospitals;Case:280 diabetic children diagnosed in Turku (south-west of the country) and 405 in Oulu (north of the country) were studied										
125722		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kikuoka, N.  et al. 2001	11894970				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese	Japan	CDC GDPinfo	3119	Hs.409934			Clinical endocrinology. 2001 Nov;55(5):597-603	Cytotoxic T lymphocyte antigen 4 gene polymorphism confers susceptibility to type 1 diabetes in Japanese children: analysis of association with HLAgenotypes and autoantibodies.		604305	11188	2	2001	 The CTLA4 gene might confer a susceptibility to childhood-onset Type 1 diabetes in the Japanese population. The association between this CTLA4 polymorphism and the HLA genotype was similar for both major groups with HLA high-risk alleles. CTLA4 might contribute to the humoral immune response to GAD in newly diagnosed subjects.	Control controls not otherwise specified in abstract;Case:125 childhood-onset Japanese subjects (50 males, 75 females) with Type 1 diabetes.										
125717	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Perez-Bravo, F.  et al. 2001	11683403				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Chile	CDC GDPinfo	3119	Hs.409934			Autoimmunity. 2001 ;33(4):285-91	Transmission of high-risk HLA-DQB1 alleles in Chilean type 1 diabetic patients and their parents:stratification by the presence of ICA or GAD65 autoantibodies		604305	11182	2	2001	 Our results reveal that DQB1*0201 allele may display distinct associations with type I diabetes depending on the autoimmunity to ICA and GAD65 autoantibodies.	Control parental controls;Case:83 type 1 diabetic cases from case-parental control:families:Chile										
139689		Latex allergy	IMMUNE	IMM	Hypersensitivity	6		HLA	29903802	30085613		Rihs 1997	9027975				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			KGB	3123	Hs.554754			Tissue antigens. 1997 Jan;49(1):92-5				3163	1	1997												
139709	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559	<0.0001	Shibue T et al. 2000	10765919	DRB1*0405		coding sequence	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	Tsuchiya N	3123	Hs.534322			Arthritis and rheumatism. 2000 Apr;43(4):753-7			142857	7084	1	2000	 Among the 3 genes examined in this study, HLA-DRB1 was considered to be most strongly associated with RA.	Case:545; Control:265										
139777		myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic|Leukemia-lymphoma, T-cell, Acute, Htlv-i-associated|Leukemia-Lymphoma, Adult T-Cell|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Nishimura, M.  et al. 2000	11163081				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Human immunology. 2000 Dec;61(12):1262-9	Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy.		142857	14397	2	2000	The results suggest that the TNF/LT-alpha gene region within the HLA class III of chromosome 6 and the TNFR-2 gene region located on chromosome 1p36 might contribute to susceptibility to HAM, and that aberrant expression or function of these cytokines and the receptor could be involved in the development of HAM.	Control:50/112 asymptomatic HTLV-I carriers (n = 50), and HTLV-I seronegative, normal controls (n = 112);Case:51/48 Japanese patients with human T-cell lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) (n = 51), patients with adult T-cell:leukemia/lymphoma (ATL) (n = 48)	human T lymphotropic virus									
139965		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hohjoh, H.  et al. 2001	11285131				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Tissue antigens. 2001 Mar;57(3):230-5	Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB1*1501 and -DQB1*0602.		142857	22213	2	2001	Results agreed with the negative association of DRB1*1502 and positive association of the TNF-alpha(-857T) and TNFR2-196R combination with the disorder. In addition, a significant association of the TNF-alpha(-857T) homozygote with the disorder and an increase in a rare haplotype carrying DRB1*1501 and TNF-alpha(-857T) in the patients were also observed in the present study.	Case narcoleptic patients;Control healthy individuals										
140145		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Windsor, L.  et al. 2005	15858601				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Genes and immunity. 2005 Jun;6(4):298-304	Does a central MHC gene in linkage disequilibrium with HLA-DRB1*0401 affect susceptibility to type 1 diabetes?		142857	26184	2	2005	Here, alleles characteristic of the 62.1AH (C4B3, IKBL+446(*)T and HLA-A2,B15) were screened in donors preselected for HLA-DRB1(*)0401. C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II. However, increases in carriage of IKBL+446(*)T and HLA-A2,B15 were marginal, as too few control subjects were available with the diabetogenic alleles. However, with these tools, selection of HLA-DRB1(*)0401, DQB1(*)0302 donors who are positive and negative for C4B3 will allow bidirectional mapping of diabetes genes in the central MHC.	Cohort individuals from a largely Caucasian cohort from Western Australia 										
140019		atopy	IMMUNE	IMM	Respiratory Hypersensitivity	6	6p21.3	HLA-DRB1	32593131	32665559		Kinnunen, T.  et al. 2005	15969672				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDPinfo	3123	Hs.534322			Clinical and experimental allergy. 2005 Jun;35(6):797-803	The DR4-DQ8 haplotype and a specific T cell receptor Vbeta T cell subset are associated with absence of allergy to Can f 1.		142857	24746	2	2005	 The DR4-DQ8 haplotype and the TCR Vbeta5.1(+) CD4(+) T cells may be protective against allergy to Can f 1.		dog allergen									
126324	Y	inflammatory response	IMMUNE	IMM	Inflammation	22	22q12	HMOX1	34107086	34120194		Schillinger, M.  et al. 2002	12222997				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			Journal of endovascular therapy. 2002 Aug;9(4):385-94	Heme oxygenase-1 genotype is a vascular anti-inflammatory factor following balloon angioplasty.		141250	17499	2	2002	 The HO-1 promoter genotype is independently associated with the inflammatory response seen after balloon angioplasty. Short alleles (<25 GT repeats) seem to be an intrinsic vascular anti-inflammatory factor.	Cohort 317 patients (188 men; median age 70 years, range 57-77) undergoing femoropopliteal balloon angioplasty (n=150) or stenting (n=61) 										
132134		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	15	15q21.1-q21.2	ONECUT1	50836644	50869501		Zhu Q 2001	11323086				One cut domain, family member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004498.1	Japanese	Japan	Y Wang	3175	Hs.511432	MODY		Diabetes research and clinical practice. 2001 Jun;52(3):171-4	Mutation screening of the hepatocyte nuclear factor (HNF)-6 gene in Japanese subjects with diabetes mellitus.		604164	3182	1	2001												
126346		urticaria/angioedema	OTHER	OTH	Angioedema|Urticaria|Angioedema	2	2q22.1	HNMT	138438059	138490404		Choi, J. H.  et al. 2005	15953854				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			CDC GDPinfo	3176	Hs.42151			Journal of Korean medical science. 2005 Jun;20(3):367-72	Polymorphisms of high-affinity IgE receptor and histamine-related genes in patients with ASA-induced urticaria/angioedema.		605238	11347	2	2005												
142390		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dizier MH et al. 1993	7688934	DR1, DR4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			American journal of human genetics. 1993 Sep;53(3):715-21	Investigation of the HLA component involved in rheumatoid arthritis (RA) by using the marker association-segregation chi-square (MASC) method: rejection of the unifying-shared-epitope hypothesis.		142857	7755	1	1993												
126491	Y	high-altitude illness	OTHER	OTH	Genetic Predisposition to Disease|Altitude Sickness	6	6p21.3	HSPA1A	31891298	31893698		Zhou, F et al; cell stress chaperones  2005, 10(4)	16333988				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4	Chinese	China	CDC GDPinfo	3303	Hs.405994			Cell stress & chaperones. 2005 ;10(4):349-56	Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population		140550	11375	2	2005	Our results suggest that individuals with hsp70-2 B/B and hsp70-hom A/B and B/B genotypes may be more susceptible to HAI, whereas those with hsp70-hom A/B genotype may be tolerant to HAI.											
126555		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	1	1p36.1-p35	HSPG2	22021323	22136337		Suzuki, A.  et al. 2004	15081423				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3	Japanese	Japan	CDC GDPinfo	3339	Hs.562227			Biochemical and biophysical research communications. 2004 May;317(3):887-92	Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese.		142461	27481	2	2004	These appear to be good candidates as genetic factors for future study.	Case:117 patients with severe chronic periodontitis;Control:125 healthy volunteers without periodontitis										
126559	N	neuroleptic malignant syndrome	PSYCH	PSY	Neuroleptic Malignant Syndrome	5	5q11.2-q13	HTR1A	63292033	63293302	n	Kawanishi C et al. 1998	9734554	Arg219Leu		coding sequence	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Japanese		KGB	3350	Hs.247940			The American journal of psychiatry. 1998 Sep;155(9):1275-7	Lack of association between neuroleptic malignant syndrome and polymorphisms in the 5-HT1A and 5-HT2A receptor genes.		109760	3232	1	1998	 The authors cannot conclude that polymorphisms in the 5-HT1A and 5HT2A receptor genes are factors determining susceptibility to the neuroleptic malignant syndrome.											
142438	Y	viral clearance	INFECTION	INF	Hepatitis B|Acute Disease|Jaundice	6	6p21.3	HLA-DRB1	32593131	32665559		Diepolder HM et al. 1998	9717974	DR13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Clinical and experimental immunology. 1998 Aug;113(2):244-51	A vigorous virus-specific CD4+ T cell response may contribute to the association of HLA-DR13 with viral clearance in hepatitis B.		142857	7803	1	1998												
142486	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DRB1	32593131	32665559		Wright P et al. 1996	8942447	DRB1*04			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The American journal of psychiatry. 1996 Dec;153(12):1530-3	Genetic association of the HLA DRB1 gene locus on chromosome 6p21.3 with schizophrenia.		142857	7851	1	1996	 DRB1*04 alleles may partially account for the genetic predisposition to schizophrenia. The association reported here may be explained by genetic linkage or by an autoimmune pathophysiology for a proportion of schizophrenia cases. Alternatively, it may be that maternal B lymphocytes that do not express the DR4 antigen encoded by DRB1*04 respond to influenza virus by producing antibodies that perturb neurodevelopment, thus underpinning a proportion of schizophrenia cases.											
142499		IDDM	OTHER	OTH	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Maffeis C et al. 1990	2075785				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	KGB	3123	Hs.534322			Acta diabetologica latina. 1990 Jul-Sep;27(3):223-30	HLA gene and phenotype data of 60 insulin-dependent diabetic patients from north-eastern Italy. A negative association with DR5 rather than DR2?		142857	7864	1	1990												
142556	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus	6	6p21.3	HLA-DRB1	32593131	32665559		Poncet D et al. 1982	6814597	DR3/4			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			British medical journal (Clinical research ed). 1982 Nov;285(6353):1451-3	Association of specific immune response to pork and beef insulin with certain HLA-DR antigens in type 1 diabetes.		142857	7921	1	1982												
126621	N	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	1	1p36.3-p34.3	HTR1D	23390974	23393809	n	Mundo E et al. 2002	12192628	G861C and the T371G polymorphisms			5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			KGB	3352	Hs.121482			Molecular psychiatry. 2002 ;7(7):805-9	5HT1Dbeta Receptor gene implicated in the pathogenesis of Obsessive-Compulsive Disorder: further evidence from a family-based association study.		182133	3252	1	2002												
126762	Y	bulimia	PSYCH	PSY	Bulimia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Bruce, K. R.  et al. 2005	15999344	( -1438A/G)		promoter	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDPinfo	3356	Hs.72630			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Aug;137(1):40-4	Association of the promoter polymorphism -1438G/A of the 5-HT2A receptor gene with behavioral impulsiveness and serotonin function in women with bulimia nervosa.		182135	11480	2	2005												
126667	N	neuroleptic malignant syndrome	PSYCH	PSY	Neuroleptic Malignant Syndrome	13	13q14-q21	HTR2A	46305513	46368995	n	Kawanishi C et al. 1998	9734554				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			The American journal of psychiatry. 1998 Sep;155(9):1275-7	Lack of association between neuroleptic malignant syndrome and polymorphisms in the 5-HT1A and 5-HT2A receptor genes.		182135	3293	1	1998	 The authors cannot conclude that polymorphisms in the 5-HT1A and 5HT2A receptor genes are factors determining susceptibility to the neuroleptic malignant syndrome.											
126646	Y	ADHD	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Levitan RD et al. 2002	12167522				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Journal of affective disorders. 2002 Sep;71(3-Jan):229-33	Polymorphism of the serotonin-2A receptor gene (HTR2A) associated with childhood attention deficit hyperactivity disorder (ADHD) in adult women with seasonal affective disorder.		182135	3271	1	2002	 These preliminary results suggest a possible association between variation in HTR2A, childhood ADHD, and the later development of SAD in women.	Cohort 66 women with SAD were administered the Wender-Utah Rating Scale (WURS), which retrospectively assesses childhood ADHD										
126645		suicide	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Cao L et al. 2001	11402448				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			KGB	3356	Hs.72630			Zhonghua yi xue yi chuan xue za zhi. 2001 Jun;18(3):195-7	Association analysis of attempted suicide and 5-HT2A receptor gene		182135	3270	1	2001	 These results suggested that liability to suicide behavior might be associated with A-1438G polymorpyhism of 5-HT2A receptor gene in male subjects.											
126641	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995	n	Serretti A et al. 2000	10686558	SNP		other	5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Italian (Caucasian)		Serretti	3356	Hs.72630	schizophrenia		American journal of medical genetics. 2000 Feb;96(1):84-7	Serotonin-2A receptor gene is not associated with symptomatology of schizophrenia.		182135	3266	1	2000												
126829		neuronal hyperexcitability	OTHER	OTH	Epilepsy, Generalized|Alcohol Withdrawal Delirium|Alcoholism	X	Xq24	HTR2C	113724806	114050880		Samochowiec J et al. 1999	10206230				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			American journal of medical genetics. 1999 Apr;88(2):126-30	Association analysis between a Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal hyperexcitability.		312861	3330	1	1999												
126817	Y	personality traits	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Ebstein RP et al. 1997	9034010				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			KGB	3358	Hs.149037			American journal of medical genetics. 1997 Feb;74(1):65-72	5-HT2C (HTR2C) serotonin receptor gene polymorphism associated with the human personality trait of reward dependence: interaction with dopamine D4 receptor (D4DR) and dopamine D3 receptor (D3DR) polymorphisms.		312861	3318	1	1997												
126918		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10q21-q24	HTR7	92490555	92607651		Ikeda, M.  et al. 2005	16192982				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3	Japanese		CDC GDPinfo	3363	Hs.73739			Neuropsychopharmacology. 2005	Positive Association of the Serotonin 5-HT(7) Receptor Gene with Schizophrenia in a Japanese Population.		182137	17616	2	2005												
126924	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Rojas I 2002	12588049				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Spanish		Y Wang	3375	Hs.46835	Complications		Endocrine. 2002 Nov;19(2):185-9	Polymorphism in intron 2 of islet amyloid polypeptide gene is associated with lower low-density lipoprotein cholesterol in nondiabetic subjects and in type 2 diabetic patients.		147940	3350	1	2002	Our findings indicate that the presence of the +79-bp polymorphism of the IAPP gene in nondiabetic subjects and in patients with type 2 diabetes is associated with lower levels of LDL cholesterol. Furthermore, abnormalities of the coding regions or the 5'-UTR of the IAPP gene are not associated with type 2 diabetes or GDM in the Spanish population.	Control:110/38 healthy controls (n=110) and gestational controls:(n=38);Case:177/38 unrelated type 2 diabetic patients (n=177) and women with gestational diabetes mellitus (n=38)										
126938	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Encephalitis|Alzheimer Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291	<0.01	Pola R 2003	12498973	E/K alleles			Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			KEW	3383	Hs.643447			Neurobiology of aging. 2003 Mar-Apr;24(2):385-7			147840	3359	1	2003		Case:98; Control:115										
127005		diabetes, type 2; insulin; glucose	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q23-q25	IDE	94204018	94323813			16380485				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDPinfo	3416	Hs.500546			Diabetes. 2006 Jan;55(1):128-35	High-Density Haplotype Structure and Association Testing of the Insulin-Degrading Enzyme (IDE) Gene With Type 2 Diabetes in 4,206 People		146680	17638	2	2006	We conclude that  common genetic variation at IDE is unlikely to confer clinically significant risk of type 2 diabetes in Caucasians.											
126996	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Ertekin-Taner N 2004	15024728			haplotype	Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			KGB	3416	Hs.500546			Human mutation. 2004 Apr;23(4):334-42	Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease.		146680	3379	1	2004	These results provide strong evidence for pathogenic variant(s) in the 276-kb region harboring IDE that influence intermediate AD phenotypes and risk for AD.	Control:108 age-matched controls;Case:109 late-onset Alzheimer's disease cases;Case:188 late-onset Alzheimer's disease cases;Control:188 age-matched controls										
127194		carotid plaque	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Carotid Stenosis|Arteriosclerosis|Diabetes Mellitus, Type 2|Rupture	12	12q14	IFNG	66834816	66839788		Giacconi, R.  et al. 2005	15992611				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Mechanisms of ageing and development. 2005 Aug;126(8):866-73	1267 HSP70-2 polymorphism as a risk factor for carotid plaque rupture and cerebral ischaemia in old type 2 diabetes-atherosclerotic patients.		147570	22327	2	2005												
127162	N	graft versus host disease	IMMUNE	IMM	Graft vs Host Disease	12	12q14	IFNG	66834816	66839788		Laguila Visentainer, J. E.  et al. 2005	16243534			3'untranslated	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Mixed Brazilian population	Brazil	CDC GDPinfo	3458	Hs.856			Cytokine. 2005 Nov;32(4-Mar):171-7	Relationship between cytokine gene polymorphisms and graft-versus-host disease after allogeneic stem cell transplantation in a Brazilian population.		147570	11916	2	2005	There are not association between IFNG and GVHD.											
127126		kidney graft survival	RENAL	REN		12	12q14	IFNG	66834816	66839788		Neumann, J.  et al. 2001	11266927				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Transplantation proceedings. 2001 Feb-Mar;33(2-Jan):501	Cytokine polymorphism and kidney graft survival at a single center.		147570	11846	2	2001	Our findings suggest that more patients should be studied and, if our results are confirmed, we should be able to tailor immunosuppression according to each patient's risk.	Cohort 35 kidney graft receptors 1992-1999 										
127120		arthritis; diabetes, type 1; pregnancy loss, recurrent; juvenile arthritis; pemphigus; IL-1RI	UNKNOWN	UNK		12	12q14	IFNG	66834816	66839788		Trejaut, J. A.  et al. 2004	15361128				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDPinfo	3458	Hs.856			Tissue antigens. 2004 Oct;64(4):492-9	Cytokine gene polymorphisms in Taiwan.		147570	11778	2	2004	Little differences were observed between the Minnan and the Hakka. On the other hand, the Minnan and Hakka showed significant differences with the indigenous people.	Cohort 										
127062	Y	coeliac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	12	12q14	IFNG	66834816	66839788		Rueda B, et al 2004	15215891				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Spanish		Javier Martin	3458	Hs.856			Genes and immunity. 2004 Sep;5(6):517-9	A functional variant of IFNgamma gene is associated with coeliac disease		147570	3412	1	2004	Our data suggest a possible role of IFNgamma CA polymorphism in CD susceptibility.	Control:contols;Case celiac disease cases										
127061		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Matsumoto C 2004	7983810				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Japanese	Japan	Y Wang	3458	Hs.856			Nippon rinsho Japanese journal of clinical medicine. 1994 Oct;52(10):2758-61	Non-MHC susceptibility genes in Japanese subjects with insulin-dependent diabetes mellitus (IDDM)]		147570	3411	1	2004												
127040		Longevity	AGING	AGE		12	12q14	IFNG	66834816	66839788		Lio D 2002	11772518	``+874T-->A			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Italian		TJB	3458	Hs.856			Experimental gerontology. 2002 Jan-Mar;37(3-Feb):315-9	Allele frequencies of +874T-->A single nucleotide polymorphism at the first intron of interferon-gamma gene in a group of Italian centenarians.		147570	3390	1	2002	Thus, studies on cytokine gene polymorphisms may promise to individuate a complex network of trans-interactive genes able to influence the type and strength of responses to environmental stressors and as a final result, thereby conditioning individual life expectancy.	Case:174 Italian centenarians (>99 years old, 142 women and 32 men):Italy;Control:248 <60-year-old control subjects (90 women and 158 men) matched for geographical distribution										
142419	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic	6	6p21.3	HLA-DRB1	32593131	32665559		Durner M et al. 1992	1396421	DRw6			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Epilepsia. 1992 Sep-Oct;33(5):814-6	Possible association of juvenile myoclonic epilepsy with HLA-DRw6.		142857	7784	1	1992												
142577	Y	immune response to hepatitis B vaccine	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Qian Y et al. 2002	12390851	DRB1*02, 07, 09			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Di 1 jun yi da xue xue bao. 2002 Jan;22(1):67-9	Association of immune response to hepatitis B vaccine with HLA-DRB1*02 07 09 genes in the population of Han nationality in Guangdong Province.		142857	7942	1	2002	 Failure or deficiency in the response to HBV vaccine is associated with the HLA-DRB1*07 gene, while HLA-DRB1*02 gene is related to the normal vaccination process or overreaction. Definite relation of HLA-DRB1*09 to the response to HBV vaccine is not found.											
142385	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Neill D et al. 1999	10568518	DRB1*03, DRB1*09			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Neuroscience letters. 1999 Nov;275(2):137-40	Risk for Alzheimer's disease in older late-onset cases is associated with HLA-DRB1*03.		142857	7750	1	1999												
127269		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Wagner, K.  et al. 2005	15986122			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Poland|Finland|Sweden	CDC GDPinfo	3479	Hs.160562			Breast cancer research and treatment. 2005 Jul;92(2):133-40	Polymorphisms in the IGF-1 and IGFBP 3 promoter and the risk of breast cancer.		147440	11591	2	2005												
127245		fat free mass	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Sun G et al. 1999	10490798				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			KGB	3479	Hs.160562			International journal of obesity and related metabolic disorders. 1999 Sep;23(9):929-35	Association and linkage between an insulin-like growth factor-1 gene polymorphism and fat free mass in the HERITAGE Family Study.		147440	3428	1	1999	 Associations were detected between the IGF-1 gene marker and FM, %FAT and FFM at baseline, and a strong association with the changes in FFM in response to training. Moreover, the IGF-1 gene marker was found to be strongly linked to the changes in FFM in response to 20 weeks of endurance exercise and weakly linked to abdominal visceral fat in the sedentary state.											
140294	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Tsai, F. J.  et al. 2003	14614750				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Chinese		CDC GDPinfo	3481	Hs.373908			Journal of clinical laboratory analysis. 2003 ;17(6):259-63	Insulin-like growth factor-II gene polymorphism is associated with primary open angle glaucoma.		147470	11599	2	2003	IGF-II is an important neurotrophic agent and regulates the suffering of POAG. C/C homozygote of IGF-II exon 9 Apa I C/T gene polymorphism is a useful marker of POAG in Chinese.	Control:104 healthy volunteers from the China Medical College:Hospital;Case:60 primary open angle glaucoma (POAG) patients										
140306		urinary calculus	METABOLIC	MET	Urinary Calculi	11	11p15.5	IGF2	2106922	2127409		Chen, W. C.  et al. 2003	12719950				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDPinfo	3481	Hs.373908			Urological research. 2003 Jul;31(3):218-22	Vascular endothelial growth factor gene polymorphism is associated with calcium oxalate stone disease.		147470	24923	2	2003	We conclude that  the VEGF gene Bst U I polymorphism is a suitable genetic marker of urolithiasis.	Case:230 patients with calcium oxalate stone;Control:230 normal controls										
127893		macular degeneration, age-related	VISION	VIS	Macular Degeneration	2	2q14	IL1A	113247962	113259442			16384981				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Investigative ophthalmology & visual science. 2006 Jan;47(1):329-35	Functional Candidate Genes in Age-Related Macular Degeneration: Significant Association with VEGF,VLDLR, and LRP6		147760	26259	2	2006	 These data suggest that LRP6, VEGF, and VLDLR may play a role in the risk of developing AMD.											
127891		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		2	2q14	IL1A	113247962	113259442		Trajkov, D.  et al. 2005	16100774				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147760	24960	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
127876		periodontitis	IMMUNE	IMM	Periodontitis	2	2q14	IL1A	113247962	113259442		Laine, M. L.  et al. 2002	12212456				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Nederlands tijdschrift voor tandheelkunde. 2002 Aug;109(8):303-6	[Risk factors in adult periodontitis: polymorphismin the interleukin-1 gene family]		147760	17717	2	2002	This data provide evidence that polymorphisms in genes of the IL-1 family are associated with severe adult periodontitis and may be a risk factor for severe periodontitis.	Control:53 periodontal healthy controls;Case:53/52 non-smoking (n=53) and smoking patients (n=52) with severe adult periodontitis										
127867		periodontitis	IMMUNE	IMM		2	2q14	IL1A	113247962	113259442		Li, Q. Y.  et al. 2005	16155691				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Shanghai kou qiang yi xue. 2005 Aug;14(4):333-7	[Interleukin-1 polymorphisms in patients with aggressive periodontitis]		147760	11755	2	2005	 The IL-1A +4845 polymorphism may be associated with AgP susceptibility in Chinese males.											
127854	N	Alzheimer's disease; Abeta load	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Green, E. K.  et al. 2002	12034804				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDPinfo	3552	Hs.1722			Neurology. 2002 May;58(10):1566-8	Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD?		147760	11739	2	2002	No evidence was found of risk for AD with these variants, nor of an effect on age at onset. However, an impact of IL-1B(-511) on Abeta(40) load (p < 0.05) was detected.											
127844	N	acute renal allograft rejection.	IMMUNE	IMM	Acute Disease	2	2q14	IL1A	113247962	113259442		Lee H 2004	14693849	-889			Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of clinical pathology. 2004 Jan;57(1):101-3	Influence of recipient and donor IL-1alpha, IL-4, and TNFalpha genotypes on the incidence of acute renal allograft rejection.		147760	3483	1	2004	 This finding argues for prospective TNFA genotyping of renal donors, with avoidance of allocation of kidneys from donors positive for the TNFA-A allele to HLA-DR mismatched recipients.											
127840	Y	cerebral amyloid angiopathy-related hemorrhage.	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Cerebral Hemorrhage|Alzheimer Disease	2	2q14	IL1A	113247962	113259442		McCarron MO 2003	12947160				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Stroke; a journal of cerebral circulation. 2003 Oct;34(10):e193-5	Association between interleukin-1A polymorphism and cerebral amyloid angiopathy-related hemorrhage.		147760	3479	1	2003	 The IL-1A allele 2 or 2,2 genotype does not appear to be a major risk factor for CAAH.											
127836		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	2	2q14	IL1A	113247962	113259442		Combarros O 2003	12928921				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			KGB	3552	Hs.1722			Journal of neurology. 2003 Aug;250(8):987-9	Age-dependent association between interleukin-1A (-889) genetic polymorphism and sporadic Alzheimer's disease. A meta-analysis.		147760	3475	1	2003												
127811	N	Total IgE	IMMUNE	IMM	Asthma	2	2q14	IL1A	113247962	113259442	n	Mao X 2000	11027520	800bp polymorphism			Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Japanese		KGB	3552	Hs.1722			Biochemical and biophysical research communications. 2000 Sep;276(2):607-12			147760	3450	1	2000												
127847		Atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	2	2q14	IL1A	113247962	113259442		Adjers K 2004	15007345				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3		Finland	KGB	3552	Hs.1722			The Journal of allergy and clinical immunology. 2004 Mar;113(3):445-7	Epistatic effect of IL1A and IL4RA genes on the risk of atopy.		147760	3486	1	2004	 These data suggest that the IL1A and IL4RA genes show an epistatic effect on the risk of atopy.											
128058		arthritis; asthma; diabetes, type 1; pemphigus; IL-1RI	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Trajkov, D.  et al. 2005	16100774				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Croatian medical journal. 2005 Aug;46(4):685-92	Cytokine gene polymorphisms in population of ethnic Macedonians.		147720	26273	2	2005	 The analysis of cytokine alleles, genotypes, and haplotypes in the sample from the Macedonian population showed a good fit with Hardy Weinberg equilibrium for most of SNPs and can be used for anthropological comparisons, as well as for association studies with different diseases.											
128041		hemophilia	HEMATOLOGICAL	HEM	Hemophilia A|Autoimmune Diseases|Inversion, Chromosome	2	2q14	IL1B	113303807	113310827			16380445				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			Blood. 2005	Polymorphisms in the IL-10 but not in the IL-1{beta} and IL-4 genes are associated with inhibitor development in patients with hemophilia A		147720	24965	2	2005												
128037		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Kim, T. H.  et al. 2005	16206345				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Korean, Canadian	Canada|Korea	CDC GDPinfo	3553	Hs.126256			The Journal of rheumatology. 2005 Oct;32(10):1907-10	Interleukin 1 and nuclear factor-kappaB polymorphisms in ankylosing spondylitis in Canada and Korea.		147720	22529	2	2005	 Our analysis of these SNP in the IL-1 complex and NF-kappaB genes does not support a major role for either in AS susceptibility in the Seoul and Toronto populations.											
128000		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	2	2q14	IL1B	113303807	113310827		Rafatpanah, H.  et al. 2003	13679820				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDPinfo	3553	Hs.126256			The Journal of allergy and clinical immunology. 2003 Sep;112(3):593-8	Association between novel GM-CSF gene polymorphisms and the frequency and severity of atopic dermatitis.		147720	22492	2	2003	 The GM-CSF genotype is an important genetic marker predicting an individual's predisposition to atopic dermatitis.	Case:113 children with atopic dermatitis;Control:114:controls										
127979		melanoma	CANCER	CAN		2	2q14	IL1B	113303807	113310827		Chakravorty, M.  et al. 2004	15222686				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Indian		CDC GDPinfo	3553	Hs.126256			Human biology; an international record of research. 2004 Feb;76(1):153-9	Ethnic differences in allele distribution for the IL8 and IL1B genes in populations from eastern India.		147720	11774	2	2004	We argue that different caste populations from the same geographic location can be pooled for the purpose of population association studies.	Cohort populations from eastern India eastern India 										
127967	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease|Sclerosis	2	2q14	IL1B	113303807	113310827	n	Buono RJ et al. 2001	11422336				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		United States|Europe	KGB	3553	Hs.126256			Epilepsia. 2001 Jun;42(6):782-4	Lack of association between an interleukin 1 beta (IL-1beta) gene variation and refractory temporal lobe epilepsy.		147720	3544	1	2001	 These data suggest that this IL-1beta promoter polymorphism does not act as a strong susceptibility factor for TLE+HS in a population of individuals of European ancestry.											
127962		periodontal disease	IMMUNE	IMM	Periodontal Diseases|Obstetric Labor, Premature	2	2q14	IL1B	113303807	113310827		Moore S 2004	14723749				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			BJOG. 2004 Feb;111(2):125-32	An investigation into the association among preterm birth, cytokine gene polymorphisms and periodontal disease.		147720	3539	1	2004	 In this study, a higher proportion of women who delivered preterm carried the polymorphic TNF-alpha-308 gene. There did not appear to be any interaction between either of the genotypes and periodontal disease with preterm delivery as has been reported for bacterial vaginosis and the TNF-alpha-308 polymorphic gene.											
127956		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Zienolddiny S 2004	14961572				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			KGB	3553	Hs.126256			International journal of cancer. Journal international du cancer. 2004 Apr;109(3):353-6	Polymorphisms of the interleukin-1 beta gene are associated with increased risk of non-small cell lung cancer.		147720	3533	1	2004												
127935	N	cardiovascular	CARDIOVASCULAR	CARD	Mitral Valve Prolapse	2	2q14	IL1B	113303807	113310827	n	Chou HT et al. 2003	12578333				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Chinese	China|Taiwan	KGB	3553	Hs.126256			The Journal of heart valve disease. 2003 Jan;12(1):38-44	Lack of association of genetic polymorphisms in the interleukin-1beta interleukin-1 receptor antagonist interleukin-4 and interleukin-10 genes with mitral valve prolapse in Taiwan Chinese.		147720	3512	1	2003	 These findings suggest that the IL-1beta, IL-1Ra, IL-4 or IL-10 gene polymorphisms are not suitable genetic markers of MVP in Taiwan Chinese.											
128082	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q12	IL1R1	102125677	102162766		Bergholdt R 2004	11197691				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Danish		Y Wang	3554	Hs.557403			Genes and immunity. 2000 Dec;1(8):495-500	Characterization of new polymorphisms in the 5' UTR of the human interleukin-1 receptor type 1 (IL1R1) gene: linkage to type 1 diabetes and correlation to IL-1RI plasma level.		147810	3549	1	2004	In both diabetic and non-diabetic subjects, the wt/wt genotype correlated with the highest IL-1RI plasma level, whereas the plasma levels were lowest for the mt/mt genotype.	Case:30 type 1 diabetic patients;Control:30 control subjects										
142410		nonfamilial idiopathic dilated cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	6	6p21.3	HLA-DRB1	32593131	32665559		Hiroi S et al. 1999	10425186	DRB1*1401			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese	Japan	KGB	3123	Hs.534322			Biochemical and biophysical research communications. 1999 Aug;261(2):332-9	Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese.		142857	7775	1	1999												
142572	Y	asthma	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Kim YK et al. 2002	11868921	DRB1*07 and DRB1*13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			Annals of allergy, asthma & immunology. 2002 Feb;88(2):170-4	Positive association between HLA-DRB1*07 and specific IgE responses to purified major allergens of D. pteronyssinus (Der p 1 and Der p 2).		142857	7937	1	2002	 We clearly observed the association between HLA-DRB1 alleles and specific IgE responsiveness to D. pteronyssinus major allergens. The molecular mechanism of HLA-DRB1*07 and DRB1*13 involvement in D. pteronyssinus-specific IgE responsiveness awaits further investigation.											
142588		High serum IgE concentrations	OTHER	OTH	Hypersensitivity, Immediate	6	6p21.3	HLA-DRB1	32593131	32665559		Ulbrecht M et al. 1997	9215252				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			KGB	3123	Hs.534322			The Journal of allergy and clinical immunology. 1997 Jun;99(6 Pt 1):828-36	High serum IgE concentrations: association with HLA-DR and markers on chromosome 5q31 and chromosome 11q13.		142857	7953	1	1997	 The weak associations observed after stratification for specific IgE might point to a contribution of genes in these regions to the development of allergy.											
142466		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Metcalfe KA et al. 1995	8690176	DR4/DR3			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Europe|Finland	KGB	3123	Hs.534322			Diabetologia. 1995 Oct;38(10):1223-9	In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk. DiMe (Childhood Diabetes in Finland) Study Group.		142857	7831	1	1995												
128235		cardiovascular disease; periodontal disease	CARDIOVASCULAR	CARD	Periodontitis|Cardiovascular Diseases|Chronic Disease|Genetic Predisposition to Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064		Kornman, K. S.  et al. 2001	11887471				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Annals of periodontology. 2001 Dec;6(1):48-57	Candidate genes as potential links between periodontal and cardiovascular diseases.		147679	28157	2	2001	Review Article											
128182	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Hu, Z.  et al. 2005	16019127				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDPinfo	3557	Hs.81134			Cancer letters. 2005	Allele 2 of the interleukin-1 receptor antagonist gene (IL1RN*2) is associated with a decreased risk of primary lung cancer.		147679	11794	2	2005												
128169		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Disease Susceptibility	2	2q14.2	IL1RN	113573407	113608064		Tjernstrom F 1999	10192503	IL1RN*2			Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Caucasian		Y Wang	3557	Hs.81134			Lupus. 1999 ;8(2):103-8	Synergetic effect between interleukin-1 receptor antagonist allele (IL1RN*2) and MHC class II (DR17,DQ2) in determining susceptibility to systemic lupus erythematosus.		147679	3594	1	1999												
128165	Y	primary open-angle glaucoma	VISION	VIS	Glaucoma, Open-Angle	2	2q14.2	IL1RN	113573407	113608064		Lin HJ 2003	12913327				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Ophthalmologica. 2003 Sep-Oct;217(5):358-64	Association of interleukin 1beta and receptor antagonist gene polymorphisms with primary open-angle glaucoma.		147679	3590	1	2003	 The frequency of the E2 allele of the IL-1beta exon 5 polymorphism was high in POAG patients. Therefore the E2 allele can be used as a marker to predict or search for the genetic causes of glaucoma in Chinese POAG patients. Furthermore, we have concluded that the other 2 polymorphisms (IL-1 promoter 511 and IL-1Ra) are not helpful in predicting Chinese POAG.											
128155	Y	Malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Bellamy R et al. 1998	9861406				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	West African	Gambia	KGB	3557	Hs.81134			Transactions of the Royal Society of Tropical Medicine and Hygiene. 1998 May-Jun;92(3):312-6	Absence of an association between intercellular adhesion molecule 1 complement receptor 1 and interleukin 1 receptor antagonist gene polymorphisms and severe malaria in a West African population.		147679	3580	1	1998												
128144		Osteoporotic fractures	OTHER	OTH	Osteoporosis|Bone Resorption|Fractures, Spontaneous|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Langdahl BL et al. 2000	10750554				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Journal of bone and mineral research. 2000 Mar;15(3):402-14	Osteoporotic fractures are associated with an 86-base pair repeat polymorphism in the interleukin-1--receptor antagonist gene but not with polymorphisms in the interleukin-1beta gene.		147679	3569	1	2000												
128140	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	2	2q14.2	IL1RN	113573407	113608064	n	Huang WX et al. 1996	8765338				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			KGB	3557	Hs.81134			Journal of neuroimmunology. 1996 Jul;67(2):143-4	An interleukin 1-receptor-antagonist gene polymorphism is not associated with multiple sclerosis.		147679	3564	1	1996												
128213	Y	atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Pessi, T.  et al. 2003	12746420				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Finnish	Finland	CDC GDPinfo	3557	Hs.81134			Journal of medical genetics. 2003 May;40(5):e66	A common IL-1 complex haplotype is associated with an increased risk of atopy.		147679	24996	2	2003	We conclude that the IL1a*1/IL1B*1/IL1RN*2 haplotype contains the decisive allale or allele combinations which increase the risk of atopy.	Cohort 254/151 females (n=254) and males (n=151) who were the controls of a Finnish population based case-control study. 			1a*1/1B*1/1RN*2 haplotype					y		
128275		graft rejection, liver	IMMUNE	IMM	Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Warle, M. C.  et al. 2002	12089714				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Liver transplantation. 2002 Jul;8(7):603-11	Cytokine gene polymorphisms and acute human liver graft rejection.		147680	27502	2	2002	These findings suggest a role for the regulatory-type cytokine transforming growth factor-beta1 in human liver graft rejection.	Cohort 89 Patients who received a primary liver graft from 1992 onward and were seen at the transplant outpatient clinic 1992 - present 										
128258		kidney failure	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Cox, E. D.  et al. 2001	11544437				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			Transplantation. 2001 Aug;72(4):720-6	Cytokine polymorphic analyses indicate ethnic differences in the allelic distribution of interleukin-2 and interleukin-6.		147680	22560	2	2001	 Our work demonstrates a correlation between ethnicity and polymorphisms in several cytokine genes. In addition, we found that patients requiring renal transplantation differ from the general population with regard to certain cytokine gene polymorphisms. These findings may have relevance in making prognostic determinations or tailoring immunomodulatory regimens after renal transplantation.	Cohort 160 subjects including 102 whites and 43 African-Americans 										
128244	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Fedetz, M.  et al. 2002	12358847	(-631 and -475)		promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDPinfo	3558	Hs.89679			European journal of immunogenetics. 2002 Oct;29(5):389-90	Analysis of -631 and -475 interleukin-2 promoter single nucleotide polymorphisms in multiple sclerosis.		147680	11800	2	2002	Our results suggest that these polymorphisms do not contribute to MS susceptibility.	Case patients with multiple sclerosis;Control healthy controls										
128239		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Models, Animal	4	4q26-q27	IL2	123592075	123597100		Denny P 2004	9075813				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			Y Wang	3558	Hs.89679			Diabetes. 1997 Apr;46(4):695-700	Mapping of the IDDM locus Idd3 to a 0.35-cM interval containing the interleukin-2 gene		147680	3607	1	2004												
128439		arthritis; osteoarthritis	OTHER	OTH	Arthritis, Rheumatoid|Osteoarthritis	5	5q31.1	IL4	132037271	132046267		Chernajovsky, Y.  et al. 2002	12421093				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			American journal of pharmacogenomics. 2002 ;2(4):223-34	Advances in understanding the genetic basis of rheumatoid arthritis and osteoarthritis:implications for therapy		147780	28061	2	2002	Review article											
128413		gastric atrophy	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Togawa, S.  et al. 2005	15904474				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Helicobacter. 2005 Jun;10(3):172-8	Interleukin-2 gene polymorphisms associated with increased risk of gastric atrophy from Helicobacter pylori infection.		147780	25024	2	2005	 These results reveal that the IL-2 gene polymorphism is associated with an increased risk of gastric atrophy induced by H. pylori infection and might predispose to gastric cancer.	Cohort 454 Japanese subjects 	Helicobacter pylori									
128403		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	5	5q31.1	IL4	132037271	132046267		Steck, A. K.  et al. 2005	16046318				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Diabetes. 2005 Aug;54(8):2482-6	Association of non-HLA genes with type 1 diabetes autoimmunity.		147780	25014	2	2005												
128394		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Lai, K. C.  et al. 2005	16289646				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Taiwan	CDC GDPinfo	3565	Hs.73917			European journal of surgical oncology. 2005 Dec;31(10):1135-40	Association of genetic polymorphisms of MK, IL-4, p16, p21, p53 genes and human gastric cancer in Taiwan.		147780	25005	2	2005	 Genetic susceptibility testing is a tool to evaluate the association of genetic polymorphisms with gastric cancer carcinogenesis.		alcohol									
128391	Y	nephrotic syndrome	RENAL	REN	Nephrosis, Lipoid|Hypersensitivity|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Acharya, B.  et al. 2005	15687724				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Indonesia	CDC GDPinfo	3565	Hs.73917			American journal of nephrology. 2005 Jan-Feb;25(1):30-5	Polymorphism of the interleukin-4, interleukin-13, and signal transducer and activator of transcription 6 genes in Indonesian children with minimal change nephrotic syndrome.		147780	22581	2	2005	 The genetic variations in the IL-4 and IL-13 genes may be associated with predisposition to MCNS.	Control:61 controls with neigher allergic nor renal disease;Case:84 Indonesian children with minimal change nephrotic:syndrome										
128385	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Bugawan, T. L.  et al. 2003	12748907				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Philippines	CDC GDPinfo	3565	Hs.73917			American journal of human genetics. 2003 Jun;72(6):1505-14	Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos.		147780	22575	2	2003	Our data suggest that the risk for T1D is determined, in part, by polymorphisms within the IL4R locus, including promoter and coding-sequence variants, and by specific combinations of genotypes at the IL4R and the IL4 and IL13 loci.	Case:90 Filipino patients with type 1 diabetes;Control:94:controls										
128376		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Adjers, K.  et al. 2005	16215326				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Finland	CDC GDPinfo	3565	Hs.73917			International archives of allergy and immunology. 2005 Nov;138(3):251-6	Epistatic effect of TLR4 and IL4 genes on the risk of asthma in females.		147780	19883	2	2005	 Our results indicate that in females the TLR4 and IL4 genes show an epistatic effect on the risk of asthma. The low LPS-responsive allele G of TLR4 and high IgE production allele T of IL4 were found to be the predisposing combination. However, there was no epistatic effect on the risk of atopy.											
128367		cholelithiasis; biliary duct stone	METABOLIC	MET	Choledocholithiasis|Cholecystolithiasis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Zhuang, X. M.  et al. 2005	16083600	C589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Zhonghua wai ke za zhi [Chinese journal of surgery]. 2005 Jul;43(13):850-2	[The relationship between the C589T polymorphism of IL-4 gene and cholelithiasis]		147780	11833	2	2005	 The C589T polymorphism of IL-4 gene was not associated with cholecystolithiasis patients in Chinese, but was related to patients with biliary duct stone in Chinese.											
128365	Y	malaria, plasmodium falciparum	INFECTION	INF	Malaria, Cerebral|Parasitemia|Malaria, Falciparum	5	5q31.1	IL4	132037271	132046267		Gyan, B. A.  et al. 2004	15373917			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Ghana	Ghana	CDC GDPinfo	3565	Hs.73917			Clinical and experimental immunology. 2004 Oct;138(1):145-50	Allelic polymorphisms in the repeat and promoter regions of the interleukin-4 gene and malaria severity in Ghanaian children.		147780	11831	2	2004	Our data suggest that IL-4 and/or IgE play a regulatory role in the pathogenesis of severe or complicated malaria.	Case Ghanaian children with severe malaria;Control:non-carriers										
128360		IL-4	IMMUNE	IMM	HIV Infections	5	5q31.1	IL4	132037271	132046267			11881490				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDPinfo	3565	Hs.73917			Zhurnal mikrobiologii, epidemiologii, i immunobiologii. 2001 Nov-Dec;(6):28-32	[Analysis of polymorphism of the interleukin-4 gene of healthy and HIV-infected persons]		147780	11826	2		We may thus infer that the human genotype controlling the initial level of the production of IL-4 by lymphocytes Th2 may influence the intensity of antibody production in the process of infection.	Cohort healthy donors 										
128349	N	asthma and atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Beghe B 2003	12911786				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	caucasian		KGB	3565	Hs.73917			Clinical and experimental allergy. 2003 Aug;33(8):1111-7	Polymorphisms in the interleukin-4 and interleukin-4 receptor alpha chain genes confer susceptibility to asthma and atopy in a Caucasian population.		147780	3660	1	2003												
128322	Y	Atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267	P=0.01	Kawashima T 1998	9643293	C-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Journal of medical genetics. 1998 Jun;35(6):502-4			147780	3633	1	1998												
128537	Y	atopy	IMMUNE	IMM	Hypersensitivity, Immediate	16	16p11.2-12.1	IL4R	27232751	27283600		Isidoro-Garcia, M.  et al. 2005	15737301	(Q576R)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Spanish	Spain	CDC GDPinfo	3566	Hs.513457			Med Clin (Barc). 2005 Feb;124(6):211-2	[IL4RA gene polymorphism (Q576R) is associated with higher total IgE levels in Spanish patients with family history of atopy]		147781	11841	2	2005	 Our results suggest that the R576 allele could characterize a specific group of patients with a familial history of atopy in whom the presence of this allele may be related to higher levels of serum IgE.	Cohort 154 patients from the Allergy Department of the University Hospital of Salamanca Spain 	family history									
128532		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Diabetes Mellitus, Type 1	16	16p11.2-12.1	IL4R	27232751	27283600		Kanemitsu S 1999	10366128				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			Y Wang	3566	Hs.513457			Arthritis and rheumatism. 1999 Jun;42(6):1298-300	Association of interleukin-4 receptor and interleukin-4 promoter gene polymorphisms with systemic lupus erythematosus.		147781	3756	1	1999												
140348	N	Fibrinogen plasma levels	OTHER	OTH		7	7p21	IL6	22733322	22738141	n	Margaglione M. 2001	11224491	-174	no association		Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Haematologica. 2001 Feb;86(2):199-204			147620	7190	1	2001	 The investigation of the IL-6 C/G-174 polymorphism does not seem to be a useful tool for predicting raised plasma fibrinogen levels.											
140370	Y	leukemia virus type I	IMMUNE	IMM	Paraparesis, Tropical Spastic	7	7p21	IL6	22733322	22738141		Nishimura M et al. 2002	12121679				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Japan	KGB	3569	Hs.512234			Human immunology. 2002 Aug;63(8):696-700	Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy.		147620	7212	1	2002												
140374	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141	n	Lee MK et al. 2002	12057750			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			KGB	3569	Hs.512234			Fertility and sterility. 2002 Jun;77(6):1304-5	Tumor necrosis factor-alpha and interleukin-6 promoter gene polymorphisms are not associated with an increased risk of endometriosis.		147620	7216	1	2002												
140560		graft-versus-host disease; longevity; spondyloarthropathies; aphthous stomatitis	IMMUNE	IMM	Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Martin, A. M.  et al. 2003	14566095				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDPinfo	3569	Hs.512234			Human heredity. 2003 ;55(4):171-8	Population frequencies of single nucleotide polymorphisms (SNPs) in immuno-modulatory genes.		147620	28067	2	2003	These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.	Cohort 158 Caucasians (n=74) and African Americans (n=84) 										
127398	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Lard LR 2003	12847677			5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Arthritis and rheumatism. 2003 Jul;48(7):1841-8	Association of the -2849 interleukin-10 promoter polymorphism with autoantibody production and joint destruction in rheumatoid arthritis.		124092	3848	1	2003	 The -2849 IL-10 promoter polymorphism is associated with autoantibody production and subsequent joint damage in RA.											
127383	Y	pneumonia	OTHER	OTH	Community-Acquired Infections|Pulmonary Disease, Chronic Obstructive|Pneumonia|Systemic Inflammatory Response Syndrome	1	1q31-q32	IL10	205007570	205012462		Gallagher PM et al. 2003	12554901				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717	severity of illness		Thorax. 2003 Feb;58(2):154-6	Association of IL-10 polymorphism with severity of illness in community acquired pneumonia.		124092	3833	1	2003	 A polymorphism affecting IL-10 expression may influence the severity of illness in patients with CAP.											
127371	Y	asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462		Karjalainen J et al. 2003	12534553			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Clinical and experimental allergy. 2003 Jan;33(1):78-83	Interleukin-10 gene promoter region polymorphism is associated with eosinophil count and circulating immunoglobulin E in adult asthma.		124092	3821	1	2003	 These results suggest that the eosinophil counts and serum IgE are differently regulated by IL-10 genotype in asthmatic and in normal subjects. However, IL-10 polymorphism is not related to susceptibility in asthma.											
127336	Y	inflammatory bowel disease/UC	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	1	1q31-q32	IL10	205007570	205012462	0.03	Tagore A 1999	10551422	#NAME?			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			KGB	3586	Hs.193717			Tissue antigens. 1999 Oct;54(4):386-90			124092	3786	1	1999												
127730	Y	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections	5	5q31	IL13	132021763	132024700			16388492				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDPinfo	3596	Hs.845			The Journal of infectious diseases. 2006 Feb;193(3):438-41	Association between Severe Respiratory Syncytial Virus Infection and IL13/IL4 Haplotypes		147683	17749	2	2006												
127714	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Hiromatsu, Y.  et al. 2004	15483090				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Japanese		CDC GDPinfo	3596	Hs.845			The Journal of clinical endocrinology and metabolism. 2005 Jan;90(1):296-301	Interleukin-13 gene polymorphisms confer the susceptibility of Japanese populations to Graves' disease.		147683	11700	2	2004	In conclusion, IL-13 gene polymorphisms are associated with GD susceptibility in Japan.	Control:244 healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune:disorders;Case:310 Japanese Graves disease patients:Japan										
127674	N	Total serum IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q31	IL13	132021763	132024700		Graves PE 2000	11678850				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Caucasian	Hong Kong	KGB	3596	Hs.845			Clinical and experimental allergy. 2001 Oct;31(10):1515-21	A polymorphism in the coding region of interleukin-13 gene is associated with atopy but not asthma in Chinese children.		147683	3892	1	2000	 Our results suggest that the R130Q polymorphism of the IL-13 gene is associated with elevated serum total and allergen-specific IgE but not asthma in Chinese children.	Case:157 Chinese children with asthma;Control:54 control children										
127762	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Dermatitis, Allergic Contact|Genetic Predisposition to Disease	15	15q26.3	IL16	79262254	79392157		Reich, K.  et al. 2003	14657881			promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3			CDC GDPinfo	3603	Hs.459095			The Journal of allergy and clinical immunology. 2003 Dec;112(6):1191-4	Association of allergic contact dermatitis with a promoter polymorphism in the IL16 gene.		603035	11704	2	2003	 The IL16 -295 promoter polymorphism might influence susceptibility to contact allergy.	Control:214 healthy subjcts;Control:310 healthy individuals;Case:86 patients with allergic contact dermatitis;Case:94 patients with allergic dermatitis										
128774		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Fajardy, I.  et al. 2002	12047362				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2		France	CDC GDPinfo	3630	Hs.89832			European journal of immunogenetics. 2002 Jun;29(3):251-7	CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study andsegregation analysis. Evidence of a maternal effect.		176730	25103	2	2002	Despite the absence of a positive association of the CTLA-4 49 G allele with type 1 diabetes, our segregation analysis supports the hypothesis of a modulation by CTLA-4 49 G/A dimorphism of the susceptibility conferred by maternal HLA-DRB1*03 inheritance. This potential parental effect needs to be confirmed in a larger data set.	Case:134 type 1 diabetic patients;Control:273 control subjects										
128771	Y	body mass; triglycerides; blood pressure, arterial	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease|Body Weight	11	11p15.5	INS	2106922	2139015		Rodriguez, S.  et al. 2004	14749349				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Human molecular genetics. 2004 Apr;13(7):715-25	Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits.		176730	22630	2	2004	We propose that long repeat insertion in the insulin gene promoter (	Cohort 2,743 males 51-62 years old 										
128761	N	beta-cell function; insulin resistance	METABOLIC	MET	Insulin Resistance	11	11p15.5	INS	2106922	2139015		Paolisso, G.  et al. 2001	11738155				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDPinfo	3630	Hs.89832			Experimental gerontology. 2001 Dec;37(1):149-56	Low insulin resistance and preserved beta-cell function contribute to human longevity but are not associated with TH-INS genes		176730	19843	2	2001	In conclusion, centenarians have a lower degree of IR and a preserved beta-cell function in comparison to noncentenarians, but the cause of such metabolic differences, which are likely does not lie in this genomic region.	Cohort 466 individuals whose age ranged from 28 to more than 100 years 										
128817		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Elbein SC 1991	1683636				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			Y Wang	3643	Hs.591381			Diabetologia. 1991 Oct;34(10):742-9	Genetic variation in insulin receptor beta-chain exons among members of familial type 2 (non-insulin-dependent) diabetic pedigrees.		147670	4040	1	1991												
128800	Y	glucose intolerance	METABOLIC	MET	Diabetes Mellitus, Type 2	19	19p13.3-p13.2	INSR	7063265	7245011		Sten-Linder M et al. 1991	1676686				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Scandinavian	Sweden	KGB	3643	Hs.591381			Diabetologia. 1991 Apr;34(4):265-70	Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population.		147670	4023	1	1991												
128792	Y	Insulin resistance	METABOLIC	MET	Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Nakashima N et al. 1995	8530617				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			KGB	3643	Hs.591381			The Journal of clinical endocrinology and metabolism. 1995 Dec;80(12):3662-7	Insulin resistance associated with substitution of histidine for arginine 252 in the alpha-subunit of the human insulin receptor: trial of insulin-like growth factor I injection therapy to enhance insulin sensitivity.		147670	4015	1	1995												
128859	N	celiac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	5	5q31.1	IRF1	131846683	131859158		Seegers, D.  et al. 2003	14675396				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1		Netherlands	CDC GDPinfo	3659	Hs.436061			European journal of immunogenetics. 2003 Dec;30(6):421-5	IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease.		147575	22636	2	2003	The IL12B TaqI and the IRF1 HinfI gene polymorphisms do not appear to be involved in susceptibility to CD. Further studies on the factors that drive the Th1 immunopathology in CD are required.	Control:237 ethnically matched healthy controls;Case:258 Dutch celiac disease patients										
128895		insulin secretion	METABOLIC	MET		2	2q36	IRS1	227308181	227372719		Stumvoll, M.  et al. 2001	11289056	Gly972Arg			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDPinfo	3667	Hs.471508			Diabetes. 2001 Apr;50(4):882-5	The Gly972Arg polymorphism in the insulin receptor substrate-1 gene contributes to the variation in insulin secretion in normal glucose-tolerant humans		147545	11958	2	2001	It is possible that this polymorphism causes insulin resistance at the level of the beta-cell and contributes to the polygenic etiology of type 2 diabetes.	Cohort normal glucose tolerant subjects 										
128883		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Marchetti P 2002	11978638	Gly(972			Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			Y Wang	3667	Hs.471508			Diabetes. 2002 May;51(5):1419-24	Insulin secretory function is impaired in isolated human islets carrying the Gly(972)-->Arg IRS-1 polymorphism.		147545	4069	1	2002												
129190		myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Myocardial Infarction|Thrombophilia	17	17q21.32	ITGB3	42686206	42745076		French, J. K.  et al. 2003	12514663				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			American heart journal. 2003 Jan;145(1):118-24	Potential thrombophilic mutations/polymorphisms in patients with no flow-limiting stenosis after myocardial infarction		173470	27778	2	2003	 Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. These data suggest that polymorphisms/mutations in some gene products influencing coagulation may influence the pathogenesis of MI.	Case:335 myocardial infarction patients with >/=1 flow-limiting stenosis of >50% at approximately 1:month;Control:60 patients with no flow-limiting stneosis										
129167		myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Rosenberg, N.  et al. 2002	12073410				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			The Israel Medical Association journal. 2002 Jun;4(6):411-4	Effects of platelet membrane glycoprotein polymorphisms on the risk of myocardial infarction in young males.		173470	25128	2	2002	 The platelet glycoproteins polymorphisms studied are not an independent risk factor for AMI.	Case:100 young males with first AMI before the age of 53;Control:119 healthy controls of similar age										
129146	N	atherosclerosis, coronary; diabetes, type 2; hypertension; diabetic nephropathy; retinopathy, diabetic; diabetes, type 1	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Pucci, L.  et al. 2003	14634961				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Giornale italiano di nefrologia. 2003 Sep-Oct;20(5):461-9	[Integrin Beta 3 PlA1/PlA2 polimorphism does not contribute to complications in both type 1 and type 2 diabetes]		173470	17874	2	2003	 The PlA1/PlA2 polymorphism of the GPIIIa gene does not contribute to the development of nephropathy or retinopathy in type 1 and type 2 diabetes. Furthermore, no association was found between the PlA1/PlA2 polymorphism, hypertension, and coronary heart disease.	Cohort 732/605 type 1 diabetic (n=732) and type 2 (n=605) diabetic subjects 										
129142		longevity	AGING	AGE		17	17q21.32	ITGB3	42686206	42745076		Zhang, K. Q.  et al. 2001	12578602				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Chinese		CDC GDPinfo	3690	Hs.218040			Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui. 2001 Sep;9(3):256-259	Analysis of Human Platelet Antigen Genotypic Frequencies in Chinese Population by PCR Amplification with Sequence Specific Primers		173470	17869	2	2001	In conclusion the method is feasible and practical and may be available to typing for HPA in the clinical laboratories.	Cohort 110 random Chinese blood donors 										
129130		subarachnoid hemorrhage	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Thrombosis	17	17q21.32	ITGB3	42686206	42745076		Iniesta, J. A.  et al. 2004	15331787				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Stroke; a journal of cerebral circulation. 2004 Oct;35(10):2282-6	The Platelet GP IIIa Polymorphism HPA-1 (PlA) Protects Against Subarachnoid Hemorrhage		173470	12049	2	2004	 We present the first evidence suggesting a protective role for the platelet GPIIIa HPA-1b allele in SAH. The suggested platelet hyper-reactivity determined by this allele could reduce the risk to suffer SAH, specially if the aneurysm is small, attenuate the severity of the hemorrhage, and reduce the clinical grade at presentation. This effect might be amplified by the simultaneous combination with the GPIbalpha HPA-2b allele.	Case:103 patients with subarachnoid hemorrhage;Control:103/473 matched controls (n=103) and subjects from the general population (n=473)										
129128		myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Grove, E. L.  et al. 2004	15147527				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Journal of internal medicine. 2004 Jun;255(6):637-44	The platelet polymorphism PlA2 is a genetic risk factor for myocardial infarction.		173470	12046	2	2004	 In our Scandinavian study population the common platelet polymorphism Pl(A2) is significantly associated with an increased risk of MI, but not of CAD. Clinically, typing for Pl(A2) might have implications for antiplatelet therapy of patients with MI.	Case:1,019 patients with angiographically verified CAD with and without previous MI:Denmark;Control:1,191 healthy individuals										
129124	N	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Lagercrantz, J.  et al. 2003	14614355				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDPinfo	3690	Hs.218040			Blood coagulation & fibrinolysis. 2003 Dec;14(8):749-53	No evidence that the PLA1/PLA2 polymorphism of platelet glycoprotein IIIa is implicated in angiographically characterized coronary atherosclerosis and premature myocardial infarction.		173470	12042	2	2003	These results suggest that the PLA1/PLA2 polymorphism of the platelet glycoprotein IIIa gene does not substantially contribute to the development of coronary atherosclerosis or the genetic susceptibility to premature myocardial infarction.	Case:369 patients admitted to coronary care units:Stockholm, Sweden;Control:388 well-matched control subjects without coronary artery disease										
129103	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	17	17q21.32	ITGB3	42686206	42745076		Hefler L 2004	14706682	L33P			Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		173470	4120	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.											
129295	Y	baroreflex and blood pressure regulation	OTHER	OTH		5	5q34	KCNMB1	169737744	169749216		Gollasch M et al. 2002	12011654				Potassium large conductance calcium-activated channel, subfamily M, beta member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004137.2			KGB	3779	Hs.484099			Journal of hypertension. 2002 May;20(5):927-33	The BK channel beta1 subunit gene is associated with human baroreflex and blood pressure regulation.		603951	4148	1	2002												
129301	N	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.3	KCNN3	152946536	153109378	n	Antonarakis SE et al. 1999	10402501				Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002249			KGB	3782	Hs.490765			American journal of medical genetics. 1999 Aug;88(4):348-51	Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.		602983	4151	1	1999												
129366		leukemia	CANCER	CAN	Leukemia, Promyelocytic, Acute	4	4q11-q12	KIT	55218917	55301612		Kuchenbauer, F.  et al. 2005	16029447				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDPinfo	3815	Hs.479754			British journal of haematology. 2005 Jul;130(2):196-202	Impact of FLT3 mutations and promyelocytic leukaemia-breakpoint on clinical characteristics and prognosis in acute promyelocytic leukaemia.		164920	22718	2	2005												
140695		colorectal cancer	CANCER	CAN	Neoplasms|Colorectal Neoplasms|Chromosome Aberrations	12	12p12.1	KRAS	25249446	25295130			16356174				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDPinfo	3845	Hs.505033			BMC cancer [electronic resource]. 2005 ;5:160	Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study		190070	25166	2	2005	 CTNNB1 mutations seem to be of minor importance in sporadic colorectal cancer. The main differences in tumour and patient characteristics are found between groups of patients based on mismatch repair deficiency.											
140683	Y	mucinous ovarian tumor	OTHER	OTH	Adenocarcinoma, Mucinous|Cystadenocarcinoma, Serous|Ovarian Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ichikawa Y et al. 1994	8261457				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			KGB	3845	Hs.505033			Cancer research. 1994 Jan;54(1):33-5	Mutation of K-ras protooncogene is associated with histological subtypes in human mucinous ovarian tumors.		190070	4196	1	1994												
129460	Y	sepsis	INFECTION	INF	Gram-Negative Bacterial Infections|Sepsis|Genetic Predisposition to Disease	20	20q11.23-q12	LBP	36408298	36439067		Hubacek, J. A.  et al. 2001	11373419				Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2			CDC GDPinfo	3929	Hs.154078			Critical care medicine. 2001 Mar;29(3):557-61	Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific geneticpredisposition to sepsis.		151990	22732	2	2001	 Our findings suggest that common polymorphisms in the gene for LBP in combination with male gender are associated with an increased risk for the development of sepsis and, furthermore, may be linked to an unfavorable outcome. These data support the important immunomodulatory role of LBP in Gram-negative sepsis and suggest that genetic testing may be helpful for the identification of patients with an unfavorable response to Gram-negative infection.	Case:204 patients diagnosed with sepsis;Control:250 healthy blood donors										
129470		cholesterol, HDL; lipoprotein	METABOLIC	MET	Coronary Disease|Genetic Predisposition to Disease	16	16q22.1	LCAT	66531287	66535516		Talmud, P. J.  et al. 2002	12174215				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDPinfo	3931	Hs.387239			Annals of human genetics. 2002 Mar;66(Pt 2):111-24	Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men.		606967	25172	2	2002	Thus despite the key roles played by these enzymes in HDL metabolism, variation at these loci, at least as detected by these common genotypes, contributes minimally to the variance in HDL-C and apoAI levels in healthy men, highlighting the polygenic and multifactorial control of HDL-C.	Cohort 2773 healthy middle-aged men participating in the second Northwick Park Heart Study 	alcohol smoking (tobacco)									
129508		Familial Hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Benlian P et al. 1990	1978630				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			KGB	3949	Hs.213289			Ann Genet. 1990 ;33(2):65-9	A LDL receptor gene homozygous mutation: PCR amplification direct genomic sequencing associated haplotype rapid screening for frequency.		606945	4229	1	1990												
129488	Y	Coronary Artery Disease	CARDIOVASCULAR	CARD	Coronary Disease	19	19p13.3	LDLR	11061131	11105490		Salazar LA et al. 2000	10699424			intron	Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Brazil	KGB	3949	Hs.213289			Clinica chimica acta; international journal of clinical chemistry. 2000 Mar;293(2-Jan):75-88	Pvu II intron 15 polymorphism at the LDL receptor gene is associated with differences in serum lipid concentrations in subjects with low and high risk for coronary artery disease from Brazil.		606945	4209	1	2000												
140722	Y	Serum Insulin Levels in obese	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410	p=0.0035	Oksanen L 1998	9705022	Insertion/ Deletion polymorphism close to the 3` -end			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			TJB	3953	Hs.23581			International journal of obesity and related metabolic disorders. 1998 Jul;22(7):634-40			601007	7284	1	1998	 We were able to confirm the presence of a frequent insertion/deletion polymorphism close to the 3'-end of the leptin receptor gene. We also showed that serum insulin levels in morbidly obese subjects are associated with 3'-UTR variant genotype.	Case:249; Control:138										
140731	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1p31	LEPR	65658905	65875410		Jiao, J.  et al. 2004	15130412	Gln223Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Chinese	China	CDC GDPinfo	3953	Hs.23581			Zhonghua nei ke za zhi [Chinese journal of internal medicine]. 2004 Apr;43(4):276-9	[Bone mineral density and leptin receptor polymorphism Gln223Arg in Han women in Beijing]		601007	12161	2	2004	 Leptin receptor polymorphism (Gln223 Arg) has association with peak bone mass in young women, which may be used as genetic marker in predicting the risk of developing osteoporosis in Chinese women of Han nationality.	Cohort Chinese Han young women and postmenopausal osteoporotic women Beijing 										
140734	Y	cholesterol, HDL; triglycerides; cholesterol, LDL; lipoprotein; fatty acid; uric acid	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Nishikai, K.  et al. 2004	15153666				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Japanese		CDC GDPinfo	3953	Hs.23581			Journal of atherosclerosis and thrombosis. 2004 ;11(2):73-8	Effects of Leptin Receptor Gene 3'-untranslated Region Polymorphism on Metabolic Profiles in Young Japanese Men		601007	12164	2	2004	These findings suggest that serum HDL-cholesterol and apoA-I levels are influenced by the leptin receptor gene 3'-UTR polymorphism in young Japanese men.	Cohort 221 young Japanese men aged 21 to 28 years 										
140747	Y	bone density	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Koh, J. M.  et al. 2002	12457453				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDPinfo	3953	Hs.23581			European journal of endocrinology. 2002 Dec;147(6):777-83	Estrogen receptor alpha gene polymorphisms Pvu II and Xba I influence association between leptin receptor gene polymorphism (Gln223Arg) and bone mineral density in young men.		601007	22746	2	2002	 This study indicates that the Gln223Arg polymorphism of LEPR is important for determination of the peak bone mass in men and that it is influenced by ERalpha gene polymorphisms.	Cohort 219 healthy volunteers aged 10-34 years 										
129586	Y	Myocardial Infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease|Inflammation	22	22q12-q13	LGALS2	36296198	36305970		Ozaki K 2004	15129282	3279C			Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2	Japanese	Japan	KGB	3957	Hs.531776			Nature. 2004 May;429(6987):72-5	Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-alpha secretion in vitro.		150571	4247	1	2004	Our findings thus suggest a link between the LTA cascade and the pathogenesis of MI.	Control:controls;Case Japanese myocardial infarction cases										
129598	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	LHCGR	48767416	48836367		Powell, B. L.  et al. 2003	12679452				Luteinizing hormone/choriogonadotropin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000233.2			CDC GDPinfo	3973	Hs.468490			The Journal of clinical endocrinology and metabolism. 2003 Apr;88(4):1653-7	Luteinizing hormone signaling and breast cancer:polymorphisms and age of onset.		152790	18025	2	2003	Our findings suggest that the LHR18insLQ gene polymorphism determines an earlier age of disease onset and is prognostic for poor outcome of breast cancer.	Cohort 266 breast cancer patients 										
140758	N	multiple sclerosis	IMMUNE	IMM	Arthritis, Rheumatoid|Multiple Sclerosis	22	22q12.2	LIF	28966442	28972748		Vanderlocht, J.  et al. 2005	16263181				Hypothetical protein MGC20647	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002309.2			CDC GDPinfo	3976	Hs.2250			Journal of neuroimmunology. 2006 Feb;171(2-Jan):189-92	No association of leukemia inhibitory factor (LIF) DNA polymorphisms with multiple sclerosis.		159540	12171	2	2005												
129603		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|DNA Damage	17	17q11.2-q12	LIG3	30331650	30356201		Zienolddiny, S.  et al. 2005	16195237				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2			CDC GDPinfo	3980	Hs.100299			Carcinogenesis. 2005	Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.		600940	28076	2	2005												
129664		lipoproteins	METABOLIC	MET	Metabolic Syndrome X|Dyslipidemias	15	15q21-q23	LIPC	56511466	56648364			16343038				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDPinfo	3990	Hs.188630			Physiological research. 2005	Effect of gene polymorphisms on lipoprotein levels in patients with dyslipidemia of metabolic syndrome		151670	25187	2	2005												
129634	Y	coronary artery disease	CARDIOVASCULAR	CARD	Coronary Disease	15	15q21-q23	LIPC	56511466	56648364		Jansen H et al. 1997	9409263			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			KGB	3990	Hs.188630			Arteriosclerosis, thrombosis, and vascular biology. 1997 Nov;17(11):2837-42	Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients.		151670	4263	1	1997												
129722	N	amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	5	5q23.2	LOX	121429917	121441853	n	Chioza BA et al. 2001	11675877				Lysyl oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002317.3			KGB	4015	Hs.102267			Amyotrophic lateral sclerosis and other motor neuron disorders. 2001 Jun;2(2):93-7	Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis.		153455	4281	1	2001	 Mutations in the LOX gene are unlikely to be directly causative of ALS.	Control:138 controls not otherwise specified in abstract;Case:192 cohort of sporadic and familial (n=31) amyotrophic lateral sclerosis patients										
129736		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	6	6q26-q27	LPA	160872504	161007397		Zee, R. Y.  et al. 2002	12082592				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDPinfo	4018	Hs.520120			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		152200	28654	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
129758	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	8	8p22	LPL	19841057	19869049		Su ZG et al. 2002	12408999				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese	China	KGB	4023	Hs.180878			European journal of pharmacology. 2002 Nov;454(1):18-Sep	Single-nucleotide polymorphisms in the lipoprotein lipase gene associated with coronary heart disease in Chinese.		609708	4303	1	2002												
129752	Y	systolic blood pressure	OTHER	OTH	Hypertension|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Ma YQ et al. 2002	12409958				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Chinese		KGB	4023	Hs.180878			Journal of hypertension. 2002 Nov;20(11):2199-204	Association of the D8S282 marker near the lipoprotein lipase gene locus with systolic blood pressure in healthy Chinese subjects.		609708	4297	1	2002	 The D8S282 marker near the LPL gene locus contributes to the variance of SBP in healthy Hong Kong Chinese subjects, particularly in females.											
129740	Y	Stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Morrison AC 2002	11921083	X447			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	American		TJB	4023	Hs.180878			Genetic epidemiology. 2002 Mar;22(3):233-42			609708	4285	1	2002												
129879		osteoporosis	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	11	11q13.4	LRP5	67836683	67973319		Ferrari, S. L.  et al. 2005	16168727				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Bone. 2005 Dec;37(6):770-5	LRP5 gene polymorphisms and idiopathic osteoporosis in men.		603506	12240	2	2005												
129998		breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.3	LTA	31647718	31650077		Kamali-Sarvestani, E.  et al. 2005	15890243				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Iranian		CDC GDPinfo	4049	Hs.36			Cancer letters. 2005 Jun;223(1):113-9	Polymorphism in the genes of alpha and beta tumor necrosis factors (TNF-alpha and TNF-beta) and gamma interferon (IFN-gamma) among Iranian women with breast cancer.		153440	22790	2	2005	There were no differences in the TNF-alpha and TNF-beta alleles and genotypes frequencies between breast cancer patients (n=223) and control subjects (n=267). The correlations between TNFA or TNFB alleles or genotypes and clinicopathological indices were also insignificant. However, the frequency of IFN-gamma+874 T/T genotype was significantly higher in breast cancer patients compared to those of controls (P<0.002; OR=2.03, 95% CI=1.28-3.2) which indicates that Iranian women carrying the IFN-gamma+874 T/T genotype may be exposed to an increased risk of breast cancer development.	Case:223 breast cancer patients:Iran;Control:267:controls										
129958		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Goyal A 2004	14635012				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			KGB	4049	Hs.36			Journal of medical virology. 2004 Jan;72(1):60-5	Association of TNF-beta polymorphism with disease severity among patients infected with hepatitis C virus.		153440	4392	1	2004												
130037	N	NSAID- Induced Isolated Periobital Angioedema	OTHER	OTH	Orbital Diseases|Angioedema|Angioedema	5	5q35	LTC4S	179153591	179156119	n	Torres- Galvan MJ 2001	11770699	A- 444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Spanish	Spain	KGB	4056	Hs.631951			Annals of allergy, asthma & immunology. 2001 Dec;87(6):506-10	LTC4-synthase A-444C polymorphism: lack ofassociation with NSAID-induced isolated periorbital angioedema in a Spanish population.		246530	4401	1	2001	 Further studies are needed to determine whether polymorphisms in the LTC4-synthase gene or other leukotriene-forming enzymes are involved in the pathogenesis of the different subsets of NSAID sensitivity.	Case:58 patients with NSAID-induced periorbital angioedema;Control:61 control subjects	nonsteroidal anti-inflammatory (NSAID)									
130205		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Lerman, C.  et al. 2003	12627466				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDPinfo	4129	Hs.46732			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 Apr;118(1):48-54	Elucidating the role of genetic factors in smoking behavior and nicotine dependence.		309860	28170	2	2003	Review article											
140765	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Martin ER et al. 2001	11710889				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			KGB	4137	Hs.101174			JAMA. 2001 Nov;286(18):2245-50	Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease.		157140	7289	1	2001	 This integrated approach of genetic linkage and positional association analyses implicates tau as a susceptibility gene for idiopathic PD.											
140811		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546			16362633				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Colombian		CDC GDPinfo	4137	Hs.101174			J Neural Transm. 2005	Association study of polymorphisms in LRP1, tau and 5-HTT genes and Alzheimer's disease in a sample of Colombian patients		157140	22830	2	2005												
130309	Y	fat level and partitioning	OTHER	OTH		20	20q13.2-q13.3	MC3R	54257195	54258278		Boucher N et al. 2002	12142547				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			KGB	4159	Hs.248018			Molecular medicine (Cambridge, Mass). 2002 Mar;8(3):158-65	A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence.		155540	4474	1	2002	 A new 12138InsCAGACC MC3R polymorphism is associated with the level of adiposity and with body fat partitioning in interaction with corpulence in humans.	Cohort 812 subjects of the Quebec Family Study (QFS) cohort										
130345	Y	physical activity	NORMALVARIATION	NV	Genetic Predisposition to Disease	18	18q22	MC4R	56189543	56190981		Loos, R. J.  et al. 2004	15597110				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1		Quebec	CDC GDPinfo	4160	Hs.532833			International journal of obesity (2005). 2005 Apr;29(4):420-8	Melanocortin-4 receptor gene and physical activity in the Quebec Family Study.		155541	26399	2	2004	 These findings suggest that DNA sequence variation at the MC4R gene locus may contribute to the propensity to be sedentary.	Cohort 669 subjects 										
130341		obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Buono, P.  et al. 2005	15951321				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Italian	Italy	CDC GDPinfo	4160	Hs.532833			Clinical chemistry. 2005 Aug;51(8):1358-64	Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy.		155541	18973	2	2005	 We detected 2 new POMC mutations and 4 new MC4R mutations in a large number of severely obese adults living in southern Italy. These mutations, not present in normal-weight individuals, are further evidence that defects in the melanocortin pathway are related to severe obesity.											
130336	Y	obesity	METABOLIC	MET	Obesity|Obesity, Morbid	18	18q22	MC4R	56189543	56190981		Ma, L.  et al. 2004	15448103				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Pima Indian	Arizona	CDC GDPinfo	4160	Hs.532833			Diabetes. 2004 Oct;53(10):2696-9	Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians.		155541	18194	2	2004	We conclude that  variations in MC4R may account for a small portion of obesity in Pima Indians, but they do not explain the overall high prevalence of obesity in this Native American population.	Control:126 nondiabetic nonobese control subjects;Case:300 severel obese adult Pima Indians										
130451		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358			16373199				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Thai		CDC GDPinfo	4255	Hs.501522			International journal of hygiene and environmental health. 2006 ;209(1):21-9	Polymorphism in DNA repair genes and oral squamous cell carcinoma in Thailand		156569	22853	2	2006			alcohol betel quid smoking (tobacco)									
130441	Y	protein loss	CANCER	CAN	Carcinoma|Stomach Neoplasms	10	10q26	MGMT	131155455	131455358		Oue N et al. 2001	11519041			promoter	O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			KGB	4255	Hs.501522			International journal of cancer. Journal international du cancer. 2001 Sep;93(6):805-9	Promoter hypermethylation of MGMT is associated with protein loss in gastric carcinoma.		156569	4503	1	2001												
140835	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Sakaue, S.  et al. 2005	16247506			promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDPinfo	4282	Hs.407995			International journal of obesity (2005). 2006 Feb;30(2):238-42	Promoter polymorphism in the macrophage migration inhibitory factor gene is associated with obesity.		153620	12382	2	2005												
130648	Y	ovarian cancer	CANCER	CAN		11	11q22.3	MMP1	102165860	102174104		Li, Y.  et al. 2005	16080875			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDPinfo	4312	Hs.83169			Zhonghua fu chan ke za zhi. 2005 Jul;40(7):472-5	[Association of single nucleotide polymorphism in matrix metalloproteinases promoter with susceptibility to ovarian cancer]		120353	12426	2	2005	 MMP-1 and MMP-3 promoter polymorphism is not associated with the susceptibility to ovarian cancer.											
130611		Normal variation	NORMALVARIATION	NV		11	11q22.3	MMP1	102165860	102174104		Tower GB 2003	14519134			5'promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			KGB	4312	Hs.83169			European journal of biochemistry . 2003 Oct;270(20):4216-25	Fra-1 targets the AP-1 site/2G single nucleotide polymorphism (ETS site) in the MMP-1 promoter.		120353	4544	1	2003	The inhibition of Fra-1 expression preferentially downregulates transcription from the MMP-1 promoter DNA containing the 2G SNP, compared to DNA containing the 1G SNP.			MMP1	AP-1 site/2G single nucleotide polymorphism	Fra-1						
130681	Y	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	11	11q22.3	MMP12	102238673	102250922		Joos, L.  et al. 2002	11875051				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDPinfo	4321	Hs.1695			Human molecular genetics. 2002 Mar;11(5):569-76	The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function.		601046	22881	2	2002	These data suggest that polymorphisms in the MMP1 and MMP12 genes, but not MMP9, are either causative factors in smoking-related lung injury or are in linkage disequilibrium with causative polymorphisms.	Case:284 continuing smokers with fastest rate of decline of lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study;Control:306 continuing smokers with slowest rate of decline in lung function chosen from the National Heart Lung and Blood Institute, Lung Health Study										
130934		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Haque, A. K.  et al. 2004	15536330				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Applied immunohistochemistry & molecular morphology. 2004 Dec;12(4):315-22	CYP2E1 polymorphism, cigarette smoking, p53 expression, and survival in non-small cell lung cancer: a long term follow-up study.		606989	27097	2	2004	No association was found between survival and tumor type; tumor differentiation; expression of phospho-AKT, p27, and bcl-2; and polymorphic metabolizing genes other than CYP2E1. The significant association of long duration of smoking (>40 years) with loss of p53 expression and poor survival suggests inactivation of the protective p53 pathway in those who had a history of more than 40 years of smoking.	Cohort 87 lung cancer patients 	smoking (tobacco)									
130923		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Chan, E. C.  et al. 2005	16157195				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese		CDC GDPinfo	4353	Hs.458272			Cancer genetics and cytogenetics. 2005 Oct;162(1):20-Oct	Polymorphisms of the GSTM1, GSTP1, MPO, XRCC1, and NQO1 genes in Chinese patients with non-small cell lung cancers: relationship with aberrant promotermethylation of the CDKN2A and RARB genes.		606989	25254	2	2005												
130891	N	lung cancer	CANCER	CAN	Lung Neoplasms	17	17q23.1	MPO	53702215	53713295		Misra, R. R.  et al. 2001	11179831			promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Finnish	Finland	CDC GDPinfo	4353	Hs.458272			Cancer letters. 2001 Mar;164(2):161-7	Variation in the promoter region of the myeloperoxidase gene is not directly related to lung cancer risk among male smokers in Finland.		606989	18335	2	2001	These findings contrast with those from previous studies that report decreased lung cancer risk among MPO variant individ	Case lung cancer patients;Control not defined in abstract	smoking (tobacco)									
130885		vascular disease	CARDIOVASCULAR	CARD	Vasculitis	17	17q23.1	MPO	53702215	53713295		Fiebeler, A.  et al. 2004	15031357	( -463 (G-->A)			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDPinfo	4353	Hs.458272			Nephrology, dialysis, transplantation. 2004 Apr;19(4):969-71	No association of G-463A myeloperoxidase gene polymorphism with MPO-ANCA-associated vasculitis		606989	12514	2	2004	 The data suggest that G-463A polymorphism does not seem to contribute to either MPO-ANCA- or PR3-ANCA-associated vasculitis formation.	Cohort 119 ANCA-associated vasculitis patients, 48 with MPO-ANCA and 71 with proteinase 3 (PR3)-ANCA 										
130858	Y	genetic polymorphism	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Lu W et al. 2002	12515618				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Chinese		KGB	4353	Hs.458272			Zhonghua zhong liu za zhi [Chinese journal of oncology]. 2002 May;24(3):250-3	Lung cancer risk associated with genetic polymorphism in myeloperoxidase (-463 G/A) in a Chinese population		606989	4571	1	2002	 Our data support the hypothesis that -463A polymorphism in the MPO gene may reduce the susceptibility to lung cancer in the Chinese.	Case:314 Chinese lung cancer patients;Control:320 age- and sex-matched controls	smoking (tobacco)									
131021		non-Hodgkin lymphomas	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Paz-y-Mino C et al. 2002	11890986				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			KGB	4436	Hs.156519			Cancer genetics and cytogenetics. 2002 Feb;133(1):29-33	A polymorphism in the hMSH2 gene (gIVS12-6T>C) associated with non-Hodgkin lymphomas.		120435	4592	1	2002	These results suggest that the polymorphism may be associated with an increased risk to develop NHL and that probably there are differences in the effect of the polymorphisms among populations.	Case:22 individuals with non-Hodgkin lymphomas;Control:50 normal individuals										
140873	Y	recurrent early fetal loss	OTHER	OTH	Abortion, Habitual	1	1p36.3	MTHFR	11768373	11788702		Lissak A et al. 1999	10411807				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			American journal of obstetrics and gynecology. 1999 Jul;181(1):126-30	Polymorphism for mutation of cytosine to thymine at location 677 in the methylenetetrahydrofolate reductase gene is associated with recurrent early fetal loss.		607093	7330	1	1999	 The observation that polymorphism for the cytosine to thymine mutation at nucleotide 677 in the gene encoding for methylenetetrahydrofolate reductase is associated with repeated early fetal losses rather than with anembryonic gestations strengthens the argument for the role of hypercoagulability and abnormal uteroplacental vasculature in recurrent spontaneous abortion.											
140899	Y	congenital cardiac malformations	CARDIOVASCULAR	CARD	Heart Defects, Congenital	1	1p36.3	MTHFR	11768373	11788702		Wenstrom KD et al. 2001	11303187				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			American journal of obstetrics and gynecology. 2001 Apr;184(5):806-12; discussion 812-7	Association of the C677T methylenetetrahydrofolate reductase mutation and elevated homocysteine levels with congenital cardiac malformations.		607093	7356	1	2001	 Fifty percent of these isolated congenital cardiac defects were associated with either the C677T MTHFR mutation or elevated amniotic fluid homocysteine levels, or both. This finding adds to what is already known about the multiple and complex biochemical and developmental functions of the homocysteine pathway.											
140916		diabetic nephropathy.	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Moczulski D 2003	12897091	A1298C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142			Nephrology, dialysis, transplantation. 2003 Aug;18(8):1535-40	Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy.		607093	7373	1	2003	 These findings indicate that the C677T polymorphism is a risk factor for diabetic nephrop-athy in male patients with type 2 diabetes.											
140926		diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Sun J 2003	12673582				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		Y Wang	4524	Hs.214142	diabetic retinopathy		Zhonghua yi xue yi chuan xue za zhi. 2003 Apr;20(2):131-4	The relationship of methylenetetrahydrofolate reductase gene polymorphism and plasma homocysteine levels in type 2 diabetes mellitus patients with diabetic retinopathy		607093	7383	1	2003	 MTHFR gene C677T mutation associated with a predisposition to increase of plasma homocysteine may represent a genetic risk factor for diabetic retinopathy in Chinese type 2 diabetes mellitus.											
140937	N	thrombophilia and vascular disease	CARDIOVASCULAR	CARD	Fetal Death|Vascular Diseases|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Hefler L 2004	14706682	A1298C			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			KGB	4524	Hs.214142	unexplained late intrauterine fetal death		Journal of the Society for Gynecologic Investigation. 2004 Jan;11(1):42-4	Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study.		607093	7394	1	2004	 Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.	Case:94 women with late unexplained intrauterine fetal:death (IUFD);Control:94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD										
140940		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetic Angiopathies|Diabetes Mellitus, Type 2	1	1p36.3	MTHFR	11768373	11788702		Hasegawa G 2003	12784186				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			Y Wang	4524	Hs.214142	Complications		Experimental and clinical endocrinology & diabetes. 2003 May;111(3):132-8	The association between end-stage diabetic nephropathy and methylenetetrahydrofolate reductase genotype with macroangiopathy in type 2 diabetes mellitus.		607093	7397	1	2003												
141025		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	1	1p36.3	MTHFR	11768373	11788702		Chango, A.  et al. 2005	16115349				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	French	France	CDC GDPinfo	4524	Hs.214142			The British journal of nutrition. 2005 Aug;94(2):166-9	No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.		607093	22980	2	2005												
141027		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Shen, M.  et al. 2005	15922487				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese		CDC GDPinfo	4524	Hs.214142			Lung cancer (Amsterdam, Netherlands). 2005 Sep;49(3):299-309	Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China.		607093	22983	2	2005	In summary, three genetic variants in folate metabolism genes are associated with an increased risk of lung cancer in Xuan Wei, China.	Control:122 matched controls;Case:122 incident primary lung cancer cases Xuan Wei, China										
141101		lung cancer; homocysteine	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Kiffmeyer, W. R.  et al. 2004	14716779				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Minnesota|Asia|Cambodia|Laos|Vietnam	CDC GDPinfo	4524	Hs.214142			Cancer. 2004 Jan;100(2):411-7	Genetic polymorphisms in the Hmong population		607093	26441	2	2004	 The genetic differences identified have implications for both cancer etiology and prognosis in this unique population.	Cohort Individuals from Hmong population and Caucasians Minnesota 										
141129		hypertension, gestational	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Hypertension	1	1p36.3	MTHFR	11768373	11788702			16369102				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDPinfo	4524	Hs.214142			Journal of epidemiology. 2006 Jan;16(1):8-Jan	Genetic and environmental factors associated with the development of hypertension in pregnancy		607093	28090	2	2006			diet family history stress									
131118	N	lipoprotein profiles	METABOLIC	MET	Myocardial Infarction	4	4q24	MTTP	100715003	100763649	n	Herrmann SM et al. 1998	9831631			promoter	Microsomal triglyceride transfer protein (large polypeptide, 88kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			KGB	4547	Hs.195799			Journal of lipid research. 1998 Dec;39(12):2432-5	Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.		157147	4604	1	1998	We conclude that  these MTP polymorphisms are unrelated to lipid variables or coronary heart disease in this study. Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.											
141160	N	colorectal cancer	CANCER	CAN		1	1q43	MTR	235025340	235130583		Matsuo, K.  et al. 2002	12716294				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Japanese		CDC GDPinfo	4548	Hs.498187			Asian Pacific journal of cancer prevention. 2002 ;3(4):353-359	Methionine Synthase Reductase Gene A66G Polymorphism is Associated with Risk of Colorectal Cancer.		156570	23023	2	2002	In conclusion, the present study showed that the GG genotype of MTRR A66G is a risk factor for colorectal cancer in Japanese, while MTHFR and MTR polymorphisms are not. The conclusions, however, need further evaluation in terms of micronutrient status and additional confirmatory studies are required with datasets for various ethnic groups.	Control:241 non-cancer controls;Case:72/70 Japanese colon (n=72) and rectal (n=70) cancer:cases										
141174		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	1	1q43	MTR	235025340	235130583		Chango, A.  et al. 2005	16115349				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	French	France	CDC GDPinfo	4548	Hs.498187			The British journal of nutrition. 2005 Aug;94(2):166-9	No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.		156570	25320	2	2005												
131172		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	5	5p15.3-p15.2	MTRR	7922216	7954235		Chango, A.  et al. 2005	16115349				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	French	France	CDC GDPinfo	4552	Hs.481551			The British journal of nutrition. 2005 Aug;94(2):166-9	No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.		602568	26449	2	2005												
131192	N	Asthma	IMMUNE	IMM	Asthma	4	4q13-q21	MUC7	71372524	71383303	n	Kirkbride 2001	11378823	MUC7*5			Mucin 7, salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152291.1			KCB	4589	Hs.631946			European journal of human genetics. 2001 May;9(5):347-54			158375	4621	1	2001												
131205		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Zhou, X. L.  et al. 2005	15943555				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Swedish		CDC GDPinfo	4595	Hs.271353			Genetic testing. 2005 ;9(2):147-51	Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer.		604933	18466	2	2005												
131235	Y	hepatocellular carcinomas	CANCER	CAN	Carcinoma|Colonic Neoplasms	8	8q24.12-q24.13	MYC	128816946	128822855		Augenlicht LH et al. 1997	9135021				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			KGB	4609	Hs.202453	improved outcome		Cancer research. 1997 May;57(9):1769-75	Low-level c-myc amplification in human colonic carcinoma cell lines and tumors: a frequent p53-independent mutation associated with improved outcome in a randomized multi-institutional trial.		190080	4633	1	1997												
131265	N	Griscelli syndrome	NEUROLOGICAL	NEUR		15	15q21	MYO5A	50392601	50608539	n	Lambert J et al. 2000	10733681				myosin VA (heavy polypeptide 12, myoxin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209505			KGB	4644	Hs.21213			J Invest Dermatol	arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.		160777	4641	1	2000												
131478		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Gorski, B.  et al. 2005	15980987				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	Polish	Poland	CDC GDPinfo	4683	Hs.492208			Breast cancer research and treatment. 2005 Jul;92(1):19-24	Breast cancer predisposing alleles in Poland.		602667	25353	2	2005												
131475		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage	8	8q21	NBN	91014739	91066075		Medina, P. P.  et al. 2003	12917199				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDPinfo	4683	Hs.492208			Cancer epidemiology, biomarkers & prevention. 2003 Aug;12(8):699-704	Screening of Homologous Recombination Gene Polymorphisms in Lung Cancer Patients Reveals an Association of the NBS1-185Gln Variant and p53 Gene Mutations		602667	23094	2	2003	Germ-line variants in the NBS1 gene may play a role in the lung carcinogenesis in cigarette smokers.	Cohort 109 lung cancer patients 	smoking (tobacco)									
131613	Y	Body Weight Regulation	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity|Body Weight|Thinness	15	15q22-qter	NMB	82999363	83002806	0.031	Oeffner F et al. 2000	11194934			3'untranslated	Neuromedin B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021077.3	German		KGB	4828	Hs.386470			Acta diabetologica. 2000 ;37(2):93-101	Significant association between a silent polymorphism in the neuromedin B gene and body weight in German children and adolescents.		162340	4691	1	2000	These results suggest a contribution of NMB or a gene in its close vicinity to genetic weight control in humans.	Case:92 extremely obese patients;Control:94 underweight students										
131657		diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965			15856945				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDPinfo	4842	Hs.253420			Molekuliarnaia biologiia. 2005 Mar-Apr;39(2):224-9	[Polymorphic markers of the NO synthase genes and genetic predisposition to diabetic polyneuropathy in patients with type 1 diabetes mellitus]		163731	18574	2	2005	Only in the case of (CCTTT)n marker of NOS2 gene we have found a tendency for the association of 14 allele with DPN development. The carriers of this allele have the lower risk of DPN in T1DM.	Cohort 180 type 1 diabetes patients (T1DM) of Russian or Eastern Slavonic origin Moscow, Russia 										
131618		Asthma	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Wechsler ME 2000	11112111	(AAT)n>/=12			Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			KCB	4842	Hs.253420			American journal of respiratory and critical care medicine. 2000 Dec;162(6):2043-7			163731	4693	1	2000												
141233	Y	insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	7	7q36	NOS3	150319079	150342609		Ohtoshi K et al. 2002	12436344				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Japan	KGB	4846	Hs.511603			Diabetologia. 2002 Nov;45(11):1594-601	Association of (-)786T-C mutation of endothelial nitric oxide synthase gene with insulin resistance.		163729	7446	1	2002	The (-)786T-C mutation of the eNOS gene is associated with insulin resistance in both Japanese non-diabetic subjects and Type II diabetic patients.	Control:233 non-diabetic subjects;Case:301 type 2 diabetic patients										
141253	Y	preeclampsia	OTHER	OTH	Proteinuria|Pre-Eclampsia|Hypertension	7	7q36	NOS3	150319079	150342609		Yoshimura T et al. 2000	10964023				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			Journal of the Society for Gynecologic Investigation. 2000 Jul-Aug;7(4):238-41	Association of the missense Glu298Asp variant of the endothelial nitric oxide synthase gene with severe preeclampsia.		163729	7466	1	2000	 We conclude that the presence of the Glu298Asp eNOS gene could be a marker of increased risk of developing severe preeclampsia.											
141279	Y	myocardial infarction	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Vasospasm|Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Nakayama M et al. 2000	10980213				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			KGB	4846	Hs.511603			The American journal of cardiology. 2000 Sep;86(6):628-34	T(-786)--> C mutation in the 5'-flanking region of the endothelial nitric oxide synthase gene is associated with myocardial infarction especially without coronary organic stenosis.		163729	7492	1	2000												
141344	N	coronary artery disease; myocardial infarction	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Thrombosis|Myocardial Infarction|Death, Sudden	7	7q36	NOS3	150319079	150342609		Kunnas, T. A.  et al. 2002	12226742	4a/b in intron 4		other	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of molecular medicine (Berlin, Germany). 2002 Sep;80(9):605-9	Association of the endothelial nitric oxide synthase gene polymorphism with risk of coronary artery disease and myocardial infarction in middle-aged men.		163729	12772	2	2002	The eNOS gene 4a/b polymorphism was not associated with the extent of coronary atherosclerosis, but the a-allele of the variant seems to protect to some degree against the development of MI.	Cohort 700 Caucasian Finnish men, who died suddenly from two prospective autopsy series 										
141356	N	menopause	REPRODUCTION	REP		7	7q36	NOS3	150319079	150342609		Hefler, L. A.  et al. 2002	12477509				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Fertility and sterility. 2002 Dec;78(6):1184-6	A polymorphism of the Nos3 gene and age at natural menopause.		163729	12785	2	2002	In contrast to mouse models, in humans Nos3 does not seem to modulate onset and cessation of menses.	Cohort 91 consecutive Caucasian postmenopausal women 										
141449	N	placental abruption	REPRODUCTION	REP	Abruptio Placentae|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Toivonen, S.  et al. 2005	16260885				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Finnish	Finland	CDC GDPinfo	4846	Hs.511603			Fetal diagnosis and therapy. 2005 Nov-Dec;20(6):508-11	Endothelial nitric oxide synthase polymorphism is not associated with placental abruption in Finnish women.		163729	12894	2	2005	 The observed genotype data in subjects from eastern Finland suggest that the Glu298Asp polymorphism of the eNOS gene does not contribute to placental abruption in this population.											
141453		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Diabetes Mellitus, Type 2|Diabetes Complications	7	7q36	NOS3	150319079	150342609			16377020				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Diabetes research and clinical practice. 2005	Association of the endothelial nitric oxide synthase (ecNOS) gene polymorphism with carotid atherosclerosis in type 2 diabetes		163729	12899	2	2005												
141509		renal function	UNKNOWN	UNK		7	7q36	NOS3	150319079	150342609		Page, A.  et al. 2005	16093452				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Journal of the American Society of Nephrology. 2005 Oct;16(10):3053-60	Endothelial nitric oxide synthase gene/gender interactions and the renal hemodynamic response to angiotensin II.		163729	18652	2	2005												
141538	Y	kidney transplant	IMMUNE	IMM	Inflammation	7	7q36	NOS3	150319079	150342609		Sezer, S.  et al. 2005	15848528				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDPinfo	4846	Hs.511603			Transplantation proceedings. 2005 Mar;37(2):776-8	Endothelial nitric oxide synthase and angiotensin II type 1 receptor gene polymorphisms can influence chronic inflammatory state in renal transplant patients.		163729	23134	2	2005	 The presence of the bb allele of the eNOS and non-AA allele of ATR1 1166 gene is associated with an anti-inflammatory state and may predict renal outcome in transplant patients.	Cohort 80/35 male (n=80) and female (n=35) renal transplant patients 										
141594		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q36	NOS3	150319079	150342609		Austin, H.  et al. 2002	12468767				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		United States	CDC GDPinfo	4846	Hs.511603			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		163729	27151	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
131835	N	alcohol dependence	CHEMDEPENDENCY	CHEM		7	7p15.1	NPY	24290333	24298002		Makino, K.  et al. 2001	11422604	leucine(7)-to-proline(7)			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Japanese		CDC GDPinfo	4852	Hs.1832			Journal of clinical pharmacy and therapeutics. 2001 Jun;26(3):201-3	A leucine(7)-to-proline(7) polymorphism in the signal peptide of neuropeptide Y was not identified in the Japanese population.		162640	12924	2	2001	 The incidence of the Leu(7)-to-Pro(7) polymorphism in the signal peptide of NPY was extremely low in Japanese people, suggesting that the polymorphism producing Pro(7) is not one of the genetic determinant factors affecting serum cholesterol levels in Japanese people.	Cohort 102 healthy Japanese volunteers Japan 										
131829	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Stress Disorders, Post-Traumatic|Depressive Disorder|Schizophrenia	7	7p15.1	NPY	24290333	24298002		Lappalainen J et al. 2002	12215082				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2		United States|Europe	KGB	4852	Hs.1832			Archives of general psychiatry. 2002 Sep;59(9):825-31	A functional neuropeptide Y Leu7Pro polymorphism associated with alcohol dependence in a large population sample from the United States.		162640	4739	1	2002	 These results suggest that the NPY Pro7 allele is a risk factor for alcohol dependence. This is only the second specific genetic mechanism ever identified that modulates risk for alcohol dependence.	Cohort 8 population samples, including African Americans and European Americans (total n = 551); and 4 samples of individuals with Alzheimer disease, schizophrenia, posttraumatic stress disorder, and major depression (total n = 502). ;Control:202 psychiat										
131735	N	cerebrovascular disease	CARDIOVASCULAR	CARD	Cerebral Infarction|Dementia, Multi-Infarct|Ischemic Attack, Transient|Chromosome Aberrations	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Ito, D.  et al. 2002	11861701				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			CDC GDPinfo	4854	Hs.8546			Journal of neurology, neurosurgery, and psychiatry. 2002 Mar;72(3):382-4	Notch3 gene polymorphism and ischaemic cerebrovascular disease.		600276	12900	2	2002	In conclusion, the results indicate that T6746C polymorphism in the intracellular domain of the Notch3 gene is not associated with an increased risk for CVD.	Case:235 patients with cerebrovascular disease;Control:315 age and sex matched control subjects										
131784		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	5	5q35	NPM1	170746724	170770493		Schnittger, S.  et al. 2005	16076867				Nucleophosmin (nucleolar phosphoprotein B23, numatrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002520.5			CDC GDPinfo	4869	Hs.557550			Blood. 2005 Dec;106(12):3733-9	Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype.		164040	27154	2	2005												
132021	Y	clonal homozygosity of rectal cell carcinoma	CANCER	CAN	Carcinoma|Rectal Neoplasms	1	1p13.2	NRAS	115051107	115061038		Mermer B et al. 1986	3017909				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			KGB	4893	Hs.486502			Japanese journal of cancer research. 1986 Jul;77(7):639-47	Activated N-ras in a human rectal carcinoma cell line associated with clonal homozygosity in myb locus-restriction fragment polymorphism.		164790	4779	1	1986												
132051	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p13	NTF3	5411747	5474726		Kunugi H et al. 1998	9502217				Neurotrophin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527.3	Japanese	Japan	KGB	4908	Hs.99171			Neuroscience letters. 1998 Jan;241(1):65-7	Possible association of missense mutation (Gly[-63]Glu) of the neurotrophin-3 gene with Alzheimer's disease in Japanese.		162660	4783	1	1998												
132255		Severe asthma	IMMUNE	IMM	Asthma	17	17p13.3	PAFAH	1194589	1250267		Satoh N 1999	10051281	Val279Phe			platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430		Japan	KCB	5048	Hs.513851			American journal of respiratory and critical care medicine. 1999 Mar;159(3):974-9			601690	4831	1	1999												
134374		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q21.3-q22	SERPINE1	100557104	100568431		Austin, H.  et al. 2002	12468767				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		United States	CDC GDPinfo	5054	Hs.414795			Stroke; a journal of cerebral circulation. 2002 Dec;33(12):2762-8	Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young men and women.		173360	27835	2	2002	 These findings generally do not support the hypothesis that genes associated with a prothrombotic state are risk factors among a subgroup of young people with stroke of undetermined cause. Except for the D tissue plasminogen activator allele, the findings also indicated that these genetic factors are unrelated, or only weakly related, to all ischemic stroke.	Case:67 young cryptogenic stroke cases;Control:79 noncryptogenic stroke cases										
134367		polycystic ovary syndrome; pregnancy loss, recurrent	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Blood Coagulation Disorders|Hyperinsulinism|Insulin Resistance|Recurrence|Body Weight	7	7q21.3-q22	SERPINE1	100557104	100568431		Glueck, C. J.  et al. 2003	14669168				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Metabolism:  clinical and experimental. 2003 Dec;52(12):1627-32	Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with recurrentpregnancy loss.		173360	27211	2	2003	The thrombophilic G1691A Factor V Leiden mutation is associated with RPL in women with and without PCOS; hypofibrinolysis (high PAI-Fx) is also associated with RPL in women with PCOS.	Control:116 healthy Caucasian females;Case:33/16 Caucasian women referred for diagnosis and treatment of polycystic ovary syndrome (PCOS) subsequently found to have recurrent pregnancy loss (n=33) and women referred for recurrent pregnancy loss but no PCOS (n=16)										
134366		preeclampsia; hypertension, gestational	REPRODUCTION	REP	Pre-Eclampsia|Pregnancy Complications, Hematologic|Activated Protein C Resistance|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Morrison, E. R.  et al. 2002	12038776				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2002 May;87(5):779-85	Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: resultsfrom a large population-based study and systematic review.		173360	27210	2	2002	We conclude that  these prothrombotic genotypes are not associated with the development of PE or GH in our population. The systematic review supports our conclusion, for all but cases of severe disease. which appear to be associated with FVL and, to a lesser extent, MTHFR C677T. There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension.	Control:303/164 women with gestational hypertension (n=303), and control women (n=164);Case:404 women who developed preeclampsia										
134357		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Disease Progression	7	7q21.3-q22	SERPINE1	100557104	100568431		Gerhardt, A.  et al. 2005	15842353				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Journal of thrombosis and haemostasis. 2005 Apr;3(4):686-91	The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia.		173360	26559	2	2005	Hereditary risk factors for venous thrombosis do not predispose for severe preeclampsia. However, women who are carriers of the G20210A prothrombin gene mutation and the PAI-1 5G/5G genotype are at risk for early onset of severe preeclampsia. It appears that these risk factors do not induce the pathomechanism but accelerate the course of preeclampsia.	Control:277 normal women;Case:97 women with a history of preeclampsia;Case:97 women with evere preeclampsia in previous:pregnancies										
134349		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Coffey, C. S.  et al. 2004	15119966				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			BMC bioinformatics [electronic resource]. 2004 Apr;5:49	An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of modelvalidation.		173360	25525	2	2004	 The significant interaction initially observed does not validate and may represent a type I error. As data-driven analytic methods continue to be developed and used to examine complex genetic interactions, it will become increasingly important to stress model validation in order to ensure that significant effects represent true relationships rather than chance findings.	Case:343 myocardial infarction cases from the Physicians Health Study;Control:343 matched controls										
134343		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Thrombophilia|Syndrome|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Marcucci, R.  et al. 2005	15994914				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Heart    2005	PAI-1 and homocysteine, but not lipoprotein (a) nor thrombophilic polymorphism, are associated with the occurrence of major adverse cardiac events after successful coronary stenting.		173360	25519	2	2005	 Increased PAI-1 and homocysteine concentrations are independent risk factors for MACE after successful coronary stenting, whereas Lp(a) and thrombophilic polymorphisms are not predictive.											
134334		nephritis, lupus; glomerular microthrombus	IMMUNE	IMM	Lupus Nephritis|Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Gong, R.  et al. 2002	11836675				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2002 Feb;19(1):5-Jan	[Genetic variations in plasminogen activator inhibitor-1 gene and beta fibrinogen gene associated with glomerular microthrombosis in lupus nephritis and the gene dosage effect]		173360	23399	2	2002	 The above findings indicated that genetic variations in PAI-1 and beta fibrinogen loci might represent risk factors for glomerular microthrombosis in LN. They may have synergetic impact and present gene dosage effect on the susceptibility to this pathological subphenotype.	Case:101 patients with biopsy proven LN with (n=46) and without glomerular microthrombus (n=55);Control:128 unrelated healthy adults										
134324	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Proteinuria|Disease Progression	7	7q21.3-q22	SERPINE1	100557104	100568431		Suzuki, H.  et al. 2004	15481848				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Japanese		CDC GDPinfo	5054	Hs.414795			Clinical nephrology. 2004 Sep;62(3):173-9	Close relationship of plasminogen activator inhibitor-1 4G/5G polymorphism and progression of IgA nephropathy		173360	23389	2	2004	 PAI-1 polymorphism is not associated with genesis of IgA nephropathy, but may be a risk factor for the progression of IgA nephropathy in Japanese.	Case:202 biopsy-proven IgAN patients, including 117 untreated IgAN patients who had an annual health:check;Control:270 healthy volunteers										
134320		PAI-1 levels	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Moore, J. H.  et al. 2002	12123491				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Clinical genetics. 2002 Jul;62(1):74-9	A comparison of combinatorial partitioning and linear regression for the detection of epistatic effects of the ACE I/D and PAI-1 4G/5G polymorphisms on plasma PAI-1 levels		173360	23385	2	2002	The results of this exploratory data analysis support previous experimental, clinical, and epidemiological studies that have proposed as a working hypothesis that the ACE gene mediates interaction effects of the fibrinolytic and renin-angiotensin systems on plasma levels of PAI-1.	Cohort 50/117 unrelated African Americans (n=50) and unrelated Caucasians (n=117) 										
134308	N	restenosis; PAI-1 levels	CARDIOVASCULAR	CARD	Thrombosis|Peripheral Vascular Diseases|Constriction, Pathologic	7	7q21.3-q22	SERPINE1	100557104	100568431		Mlekusch, W.  et al. 2003	14515194				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Thrombosis and haemostasis. 2003 Oct;90(4):717-23	Plasminogen activator inhibitor-1 and outcome after femoropopliteal angioplasty: analysis of genotypeand plasma levels.		173360	19397	2	2003	We can conclude that carriers of the 4G allele exhibited a higher frequency of early thrombotic reocclusions after percutaneous angioplasty. However, the PAI-1 gene promoter polymorphism (4G/5G) was not associated with PAI-1 plasma levels or late postangioplasty restenosis.	Cohort 251 consecutive patients who underwent femoro-popliteal percutaneous transluminal angioplasty 										
134305		thrombosis, deep vein; Behcet's disease	CARDIOVASCULAR	CARD	Behcet Syndrome|Thrombosis|Chronic Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Gurgey, A.  et al. 2003	12632020				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDPinfo	5054	Hs.414795			Blood coagulation & fibrinolysis. 2003 Feb;14(2):121-4	Factor V Leiden mutation and PAI-1 gene 4G/5G genotype in thrombotic patients with Behcet's disease.		173360	19392	2	2003	These data suggested that the factor V Leiden mutation might be a risk factor for the development of thrombosis in Behcet's disease patients.	Cohort 50 unrelated patients with Behcet's disease 										
134266	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Bottiger, C.  et al. 2003	14597935	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Germany	CDC GDPinfo	5054	Hs.414795			American heart journal. 2003 Nov;146(5):855-61	4G/5G polymorphism of the plasminogen activator inhibitor-1 gene and risk of restenosis after coronary artery stenting.		173360	13668	2	2003	 The 4G/5G polymorphism of the PAI-1 gene is not associated with an increased risk of thrombotic and restenotic events after coronary artery stenting.	Cohort 1,850 consecutive patients evaluated with angiographic measures of restenosis and the clinical outcome at 30 days and 1 year after stent implantation 										
134262		obesity; diabetes	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus|Metabolic Syndrome X|Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Lopes, C.  et al. 2003	12856128				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian	France	CDC GDPinfo	5054	Hs.414795			Diabetologia. 2003 Sep;46(9):1284-90	PAI-1 polymorphisms modulate phenotypes associated with the metabolic syndrome in obese and diabetic Caucasian population.		173360	13660	2	2003	Our results support the hypothesis that PAI-1 polymorphisms probably interact with known environmental risk factors (chronic hyperglycaemia, obesity, etc.) to induce a more severe insulin-resistant metabolic profile in overweight subjects, and to further increase risk for CHD in diabetic subjects.	Cohort 1067 unrelated individuals of a French Caucasian cohort, selected for diabetes and obesity 										
134241	Y	asthma; allergic disease, IgE mediated	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	7	7q21.3-q22	SERPINE1	100557104	100568431		Buc, D.  et al. 2002	11972486	4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Czech	Czech Republic	CDC GDPinfo	5054	Hs.414795			Allergy. 2002 May;57(5):446-8	Polymorphism 4G/5G in the plasminogen activator inhibitor-1 (PAI-1) gene is associated with IgE-mediated allergic diseases and asthma in the Czech population		173360	13631	2	2002	 Our findings support the idea that the 4G allele of the 4G/5G polymorphism in the PAI-1 gene may be a risk factor for IgE-mediated asthma and allergic diseases.	Control:186 reference ethnically age-gender-matched unrelated:subjects;Case:207 subjects with clinically manifested asthma and other allergic diseases										
134236	Y	hypertension; cerebral infarction	CARDIOVASCULAR	CARD	Cerebral Infarction|Cerebral Hemorrhage	7	7q21.3-q22	SERPINE1	100557104	100568431		Zhang, C.  et al. 2001	11592048				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Chinese		CDC GDPinfo	5054	Hs.414795			Zhonghua yi xue yi chuan xue za zhi. 2001 Oct;18(5):383-7	[The study of PAI-1 promotor region gene polymorphism in cerebrovascular disease]		173360	13626	2	2001	 The results suggest that PAI-1 gene polymorphism may be a susceptible factor to acute cerebral infarction in Chinese, and 4G allele homozygous genotype may be the major risk factor for acute cerebral infarction, and it may be especially an independent risk factor of cerebral infarction in female patients.	Control:60 normal controls;Case:96 patients with acute cerebral infarction (CI) n=65, and hypertensives complicated with cerebral hemorrhage n=31										
141618		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	X	Xq22.3-q23	PAK3	110135081	110350816		Roh, J. W.  et al. 2004	15099969				P21 (CDKN1A)-activated kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002578.2	Korean		CDC GDPinfo	5063	Hs.390616			Gynecologic oncology. 2004 May;93(2):499-505	p53 and p21 genetic polymorphisms and susceptibility to endometrial cancer.		300142	13053	2	2004	 These data suggest that there is a significant association between the genetic polymorphisms of p53, p21, and specific combinations of the at-risk genotypes of these genes and the risk of developing endometrial cancer in Korean women.	Control:285 non-cancer controls;Case:95 Korean endometrial cancer patients (hospital-based)		p53	Pro	p21	Ser			Y		Endometrial Cancer
132354	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q32	PAX4	127037581	127043218	n	Dupont S et al. 1999	10230653				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1			KGB	5078	Hs.129706			Diabetologia. 1999 Apr;42(4):480-4	No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France.		167413	4891	1	1999	Our results indicate that NEUROD1 and PAX4 are not a common cause of either MODY or late-onset Type II diabetes in the French Caucasian population.											
132382		triglycerides; diabetes, type 2; lipoprotein	METABOLIC	MET	Diabetes Mellitus, Type 2	14	14q11.2	PCK2	23633101	23643179		Shin, H. D.  et al. 2005	16132948				Phosphoenolpyruvate carboxykinase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004563.2		Korea	CDC GDPinfo	5106	Hs.75812			Diabetologia. 2005 Oct;48(10):2025-32	Association of a polymorphism in the gene encoding phosphoenolpyruvate carboxykinase 1 with high-density lipoprotein and triglyceride levels.		261650	23208	2	2005												
141622	Y	Pendred's syndrome	OTHER	OTH	Hearing Loss, Sensorineural|Goiter|Syndrome	7	7q31	SLC26A4	107088315	107145488		Bogazzi F et al. 2000	10718825				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			KGB	5172	Hs.571246			Clinical endocrinology. 2000 Mar;52(3):279-85	A novel mutation in the pendrin gene associated with Pendred's syndrome.		605646	4926	1	2000	 We have identified a novel mutation in the pendrin gene causing Pendred's syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis. This is particularly relevant in cases such as in the subjects of our family in which the clinical features might be misleading and other genetics factors might be responsible for deafness.											
132535	N	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Massart, F.  et al. 2004	15698546				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDPinfo	5241	Hs.368072			The Journal of steroid biochemistry and molecular biology. 2004 Dec;92(5):413-8	Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm.		607311	26494	2	2004	No difference in ELN, ERalpha, PR and TGFbeta1 allele frequencies was observed in AAA patients versus controls (P>0.05). However, because possessing at least an ERbetaAluI restriction site was statistically associated to AAA onset (chi(2)=5.220; OR=1.82, P<0.05), ERbeta polymorphism was proposed as genetic determinant in the AAA susceptibility.	Control:225 healthy Caucasian controls (mean age 71.20+/-6.85:years);Case:99 unrelated Caucasian abdominal aortic aneurysm patients (mean age 69.8+/-7.1 years)										
132528	N	uterine fibroids; hyperprolactinemia	OTHER	OTH	Leiomyoma|Uterine Neoplasms|Hyperprolactinemia|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Hsieh, Y. Y.  et al. 2005	15807882				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Taiwan	CDC GDPinfo	5241	Hs.368072			Clinical endocrinology. 2005 Apr;62(4):492-7	PROGINS Alu sequence insertion is associated with hyperprolactinaemia but not leiomyoma susceptibility.		607311	18892	2	2005	 The PROGIN*T2-related genotype and allele are related to a higher susceptibility to hyperprolactinaemia. The PROGINS polymorphism is not associated with leiomyoma development.	Case:120/101:leiomyoma (n = 120); (ii) hyperprolactinaemia:subjects;Control:140:controls										
114667		leukemia, acute lymphoblastic	CANCER	CAN	Leukemia, Lymphocytic, Acute	7	7q21.1	ABCB1	86970883	87180500			16382213				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDPinfo	5243	Hs.489033			Pharmacological reports. 2005 Nov-Dec;57(6):882-8	Multi-drug transporter MDR1 gene polymorphism and prognosis in adult acute lymphoblastic leukemia		171050	8268	2	2005			chemotherapy									
114658		HIV	INFECTION	INF		7	7q21.1	ABCB1	86970883	87180500		Lee, S. S.  et al. 2005	16044113				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Vietnamese		CDC GDPinfo	5243	Hs.489033			Therapeutic drug monitoring. 2005 Aug;27(4):531-5	MDR1 genetic polymorphisms and comparison of MDR1 haplotype profiles in Korean and Vietnamese populations.		171050	8259	2	2005												
132555		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	1	1q31-q41	PIGR	205168494	205186430		Narita, I.  et al. 2001	11579946				Polymeric immunoglobulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002644.2			CDC GDPinfo	5284	Hs.497589			Internal medicine (Tokyo, Japan). 2001 Sep;40(9):867-72	Association of gene polymorphism of polymeric immunoglobulin receptor and IgA nephropathy.		173880	13119	2	2001	 This is the first demonstration of the pIgR gene polymorphisms in IgAN which are associated with its clinical phenotype. Gene polymorphisms of pIgR may be candidate genetic markers of susceptibility to IgAN.	Cohort 372 individuals including 172 histologically confirmed IgAN patients 										
132606	N	bipolar disorder	PSYCH	PSY	Keratosis Follicularis|Disease Susceptibility|Bipolar Disorder	12	12q23-q24.1	PLA2G1B	119244296	119249975		Jacobsen N et al. 1996	9149325				phospholipase A2, group IB (pancreas)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000928.2		Great Britain	KGB	5319	Hs.992			Psychiatric genetics. 1996 ;6(4):195-9	Association study of bipolar disorder at the phospholipase A2 gene (PLA2A) in the Darier's disease (DAR) region of chromosome 12q23-q24.1.		172410	4999	1	1996												
132673	Y	obesity	METABOLIC	MET	Obesity|Body Weight	15	15q26	PLIN	88008602	88023595		Qi, L.  et al. 2004	15355432				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3			CDC GDPinfo	5346	Hs.103253			Clinical genetics. 2004 Oct;66(4):299-310	Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women		170290	18949	2	2004	In summary, our data suggest that common alleles at the PLIN locus modulate body weight and metabolic variables in humans.	Cohort 1,589 White subjects randomly selected from a general Spanish population 										
132685		cholesterol, HDL; hypoalphalipoproteinemia; triglyceride	METABOLIC	MET	Tangier Disease	20	20q12-q13.1	PLTP	43960803	43974193			16388083				Phospholipid transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006227.2			CDC GDPinfo	5360	Hs.439312			Journal of lipid research. 2005	Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia		172425	18957	2	2005												
132845		glomerulonephritis	RENAL	REN	Glomerulonephritis, Membranoproliferative|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Bilge, I.  et al. 2005	16175651	Q/R192			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Cell biochemistry and function. Epub 2005 Sep	Is paraoxonase 192 gene polymorphism a risk factor for membranoproliferative glomerulonephritis in children?		168820	13255	2	2005												
132959		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Wang, X.  et al. 2003	12588779				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Chinese	China	CDC GDPinfo	5445	Hs.530077			Arteriosclerosis, thrombosis, and vascular biology. 2003 Feb;23(2):328-34	Extensive association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese Han population		602447	23255	2	2003	 This extensive association study has identified the PON1 -162G/A and R160G polymorphisms to be independently associated with CHD in Chinese Han population and warrants additional study to elucidate the biological mechanism.	Case:474 Chinese Han male coronary heart disease patients;Control:475:controls										
132941	Y	myocardial infarct; atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	7	7q21.3	PON2	94872109	94902320		Martinelli, N.  et al. 2004	14984433				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDPinfo	5445	Hs.530077			European journal of clinical investigation. 2004 Jan;34(1):14-20	Interaction between smoking and PON2 Ser311Cys polymorphism as a determinant of the risk of myocardial infarction.		602447	13268	2	2004	 In CAD subjects, a proportion of the risk of MI may be influenced by the interaction between smoking and a polymorphism in the antioxidant enzyme PON2.	Control:272 coronary artery disease free subjects;Case:618 coronary artery disease subjects	smoking (tobacco)									
132932	Y	cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON2	94872109	94902320		Sanghera DK et al. 1998	9443862				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2		Singapore|India	KGB	5445	Hs.530077			American journal of human genetics. 1998 Jan;62(1):36-44	DNA polymorphisms in two paraoxonase genes (PON1 and PON2) are associated with the risk of coronary heart disease.		602447	5056	1	1998												
141679		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Hypercholesterolemia|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Skogsberg, J.  et al. 2003	14641801				Peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDPinfo	5465	Hs.103110			Journal of internal medicine. 2003 Dec;254(6):597-604	Peroxisome proliferator activated receptor delta genotype in relation to cardiovascular risk factors and risk of coronary heart disease in hypercholesterolaemic men.		170998	19039	2	2003	 PPARD plays a role in cholesterol metabolism in man.	Control:1,160 hypercholesterolemic individuals who remained free of coronary heart disease;Case:580 hypercholesterolemi cases with incident coronary heart disease from the West of Scotland Coronary Prevention Study:Scotland										
133008	Y	bone mineral density	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Ogawa S et al. 1999	10381354				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Biochemical and biophysical research communications. 1999 Jun;260(1):122-6	Association of bone mineral density with a polymorphism of the peroxisome proliferator-activated receptor gamma gene: PPARgamma expression in osteoblasts.		601487	5084	1	1999												
132999	Y	HDL cholesterol/ BMI	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855	0.05	Knoblauch H 1999	10591673	TT			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			KGB	5468	Hs.162646			Arteriosclerosis, thrombosis, and vascular biology. 1999 Dec;19(12):2940-4			601487	5075	1	1999	We conclude that  the PPARgamma gene is highly relevant to lipid metabolism and body mass index, not only in the morbidly obese but also in healthy nonobese subjects. The same appears to be true for its binding partner. Sequencing these genes in twins would serve to identify gene variations contributing to body mass index and lipid concentrations in healthy nonobese subjects.											
133165		breast cancer	CANCER	CAN	Breast Neoplasms	5	5p14-p13	PRLR	35084617	35266334		Canbay, E.  et al. 2004	15119991				Prolactin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000949.2			CDC GDPinfo	5618	Hs.368587			Current medical research and opinion. 2004 Apr;20(4):533-40	Could prolactin receptor gene polymorphism play a role in pathogenesis of breast carcinoma?		176761	13331	2	2004	 Polymorphism of prolactin receptors might play a role in mammary carcinogenesis as a consequence of intracellular changes of PRLR signalling.	Cohort 38 breast cancer patients 										
133265	N	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	9	9p11.2	PRSS3	33740642	33789228		Nemoda, Z.  et al. 2005	15855826				Protease, serine, 3 (mesotrypsin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002771.2			CDC GDPinfo	5646	Hs.128013			Pancreatology. 2005 ;5(3-Feb):273-8	Genetic and biochemical characterization of the E32del polymorphism in human mesotrypsinogen.			13352	2	2005	 The results classify E32del mesotrypsinogen as a frequent polymorphic variant, which is not associated with chronic alcoholic pancreatitis.	Control:109 healthy controls;Case:97 German patients with chronic pancreatitis of alcoholic etiology										
133295		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression	14	14q24.3	PSEN1	72672931	72756862		Heckmann JM 2004	14570818				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Southern African	South Africa	KGB	5663	Hs.592324			Brain. 2004 Jan;127(Pt 1):133-42	Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.		104311	5187	1	2004												
133322		early-onset familial Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Tedde A 2003	14623725				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			KGB	5664	Hs.25363			Archives of neurology. 2003 Nov;60(11):1541-4	Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.		600759	5190	1	2003	 One novel PS2 mutation associated with highly penetrant but variable age at onset (35-85 years) and 2 novel PS1 missense mutations associated with early-onset Alzheimer disease at age 49 to 54 years have been identified in Italian families. Screening for new mutations in presenilin and betaAPP genes was beneficial in characterizing gene function in FAD.											
141694	N	spondyloarthropathies	IMMUNE	IMM	Spinal Diseases|Arthritis|Uveitis	6	6p21.3	PSMB9	32929915	32935606	n	Hohler T et al. 1997	9496154				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			KGB	5698	Hs.132682			Annals of the rheumatic diseases. 1997 Dec;56(12):741-3	No primary association between LMP2 polymorphisms and extraspinal manifestations in spondyloarthropathies.		177045	5200	1	1997	 There is no independent association between LMP2 genotypes and the occurrence of uveitis or peripheral arthritis in HLA-B27 positive subjects with spondyloarthropathy. DR4 and DR7 do not contribute to these disease manifestations.											
141711		dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	PSMB9	32929915	32935606		Lee, H. J.  et al. 2001	11737038				Proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Korean	Korea	CDC GDPinfo	5698	Hs.132682			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		177045	26525	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
135776	Y	ability to taste phenylthiocarbamide	OTHER	OTH		7	7q34	TAS2R38	141318899	141320042	10 to the minus 33	Kim, UK et al. Science 299:1221-1225 (2003)	12595690	Allele of T2R38 bitter receptor gene containing alanine at a.a. 49, valine at a.a. position 262, and isoleucine at a.a. position 296	correlated with the inability to taste PTC	coding sequence	Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2	European, East Asian, sub-Sahara African, SW Native American		Dennis Drayna	5726	Hs.122785			Science. 2003 Feb;299(5610):1221-5	Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide		607751	5203	1	2003												
133389	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Nakayama T et al. 2002	11924728			promoter	Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			KGB	5740	Hs.302085			Hypertension research. 2002 Jan;25(1):65-8	Association study between a novel single nucleotide polymorphism of the promoter region of the prostacyclin synthase gene and essential hypertension.		601699	5212	1	2002	Thus, this SNP in the PGIS gene is not associated with EH.	Case:200 hypertensive patients;Control:200:controls										
133561		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hepatomegaly	14	14q21-q22	PYGL	50441686	50480984		Tomihira, M.  et al. 2004	15223230				Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002863.3			CDC GDPinfo	5836	Hs.282417			Diabetes research and clinical practice. 2004 Aug;65(2):175-82	Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes:genetic analysis of the liver glycogen phosphorylase gene (PYGL).		232700	19209	2	2004	Further studies including genetic analysis on the promoter region of the gene are necessary to clarify the etiology of susceptibility to excessive liver glycogen storage in patients with type 1 diabetes.	Cohort 51 Japanese normal subjects 										
133607		retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Yoshioka, K.  et al. 2005	15942086	G1704T			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Japanese	Japan	CDC GDPinfo	5891	Hs.104119			Internal medicine (Tokyo, Japan). 2005 May;44(5):417-21	Relation between polymorphisms G1704T and G82S of rage gene and diabetic retinopathy in Japanese type 2 diabetic patients.		605762	13464	2	2005	 These data suggest that polymorphisms G1704T and G82S of the RAGE gene are not related to DR in Japanese type 2 diabetic patients.											
133682		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Zhu, X.  et al. 2003	12695419				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDPinfo	5972	Hs.3210			Hypertension. 2003 May;41(5):1027-34	Associations between hypertension and genes in the renin-angiotensin system.		179820	26544	2	2003	Thus, in this biracial population sample, we find evidence that interindividual variation in the renin-angiotensin system genes contributes to hypertension risk.	Control:108/113 African American (n=108) and European American:(n=113) controls;Case:84/41 African American (n=84) and European American (n=41)hypertension cases										
133781		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Williams, N. M.  et al. 2004	14732600				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDPinfo	5999	Hs.386726			Biological psychiatry. 2004 Jan;55(2):192-5	Support for RGS4 as a susceptibility gene for schizophrenia		602516	19260	2	2004	 Our data give modest support for the hypothesis that the regulator of G-protein signaling 4 is a susceptibility gene for schizophrenia.	Case:709 schizophrenic patients;Control:710:controls										
133777		Schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Williams NM 2004	14732600				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			KGB	5999	Hs.386726			Biological psychiatry. 2004 Jan;55(2):192-5	Support for RGS4 as a susceptibility gene for schizophrenia.		602516	5283	1	2004	 Our data give modest support for the hypothesis that the regulator of G-protein signaling 4 is a susceptibility gene for schizophrenia.	Case:709 schizophrenic patients;Control:710:controls										
133773	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10q25	RGS10	121249328	121292212		Hishimoto, A.  et al. 2004	15482592				Regulator of G-protein signalling 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005339.1		Japan	CDC GDPinfo	6001	Hs.501200			Psychiatry and clinical neurosciences. 2004 Oct;58(5):579-81	Novel missense polymorphism in the regulator of G-protein signaling 10 gene: analysis ofassociation with schizophrenia		602856	13505	2	2004	The results do not provide evidence that the RGS10 gene is involved in biological vulnerability to schizophrenia.	Case Japanese patients with schizophrenia;Control:controls										
133823	Y	Retinitis Pigmentosa	OTHER	OTH	Retinitis Pigmentosa	X	Xp11.4	RPGR	38013366	38071732		Weleber RG et al. 1997	9366675	2 base-pair CA insertion following the first nucleotide in codon 99	Creates frameshift that would be expected to result in translation of 33 incorrect amino acids followed by a premature arrest of translation.	coding sequence	Retinitis pigmentosa GTPase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000328.2			RGW	6103	Hs.61438			Archives of ophthalmology. 1997 Nov;115(11):1429-35	X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.		312610	5293	1	1997	 A frameshifting 2-base pair insertion at codon 99 of the RPGR gene produced typical retinitis pigmentosa and carrier findings (but no tapetallike reflex) in this family.											
133851	N	schizophrenia; autism; alcoholism; bipolar disorder; attention deficit hyperactivity disorder	PSYCH	PSY	Alcoholism|Genetic Predisposition to Disease|Mental Disorders|Attention Deficit Disorder with Hyperactivity|Autistic Disorder|Bipolar Disorder|Schizophrenia	1	1q22-q23	RXRG	163636973	163681054		Feng, J.  et al. 2005	15635645				Retinoid X receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006917.3			CDC GDPinfo	6258	Hs.26550			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Feb;133(1):50-3	Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.		180247	27827	2	2005	We conclude that  structural variants in the RAR/RXR and NURR1 genes do not play a major role in the etiology of schizophrenia.	Cohort 100/20-24 schizophrenia patients (n=100) and patients with bipolar disorder (BPD), attention-deficit hyperactivity disorder (ADHD), autism, or alcoholism (n=20-24 										
133857	Y	cores and rods is associated	OTHER	OTH	Myopathies, Nemaline|Myopathy, Central Core|Genetic Predisposition to Disease|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Monnier N et al. 2000	11063719				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1		France	KGB	6261	Hs.466664			Human molecular genetics. 2000 Nov;9(18):2599-608	An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.		180901	5306	1	2000												
133870		amyloidosis; Familial Mediterranean Fever	METABOLIC	MET	Amyloidosis	11	11p15.1-p14	SAA2	18223364	18226744		Tastan, H.  et al. 2005	16152805				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030754.2	Turkish	Turkey|Azerbaijan	CDC GDPinfo	6289	Hs.1955			Genetika. 2005 Jul;41(7):986-9	The frequencies of the serum amyloid A2 alleles in healthy (Turkish, Azerbaijan and Kazakh) populations.		104751	23352	2	2005												
133934	Y	Brugada syndrome	CARDIOVASCULAR	CARD	Bundle-Branch Block|Heart Arrest|Syndrome	3	3p21	SCN5A	38564556	38666167		Rook MB et al. 1999	10690282				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			KGB	6331	Hs.517898			Cardiovascular research. 1999 Dec;44(3):507-17	Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.		600163	5327	1	1999	 Two SCN5A mutations associated with the Brugada syndrome, significantly affect cardiac sodium channel characteristics. The alterations seem to be associated with an increase in inward sodium current during the action potential upstroke.											
118474		Asthma. atopy	IMMUNE	IMM	Asthma|Airway Obstruction|Hypersensitivity, Immediate	17	17q11.2-q12	RANTES	31223121	31231459		Fryer AA 2000	11197694	G-403A (G-401A)			chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917378			KCB	6352	Hs.514821			Genes and immunity. 2000 Dec;1(8):509-14				5351	1	2000												
133988	Y	paragangliomas, head and neck	CANCER	CAN	Paraganglioma|Head and Neck Neoplasms	1	1p36.1-p35	SDHB	17217811	17253252		Baysal, B. E.  et al. 2002	11897817				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1		United States	CDC GDPinfo	6390	Hs.465924			Journal of medical genetics. 2002 Mar;39(3):178-83	Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.		185470	19345	2	2002	 Mutations in SDHD are the leading cause of head and neck paragangliomas in this clinic patient series. SDHD and SDHB mutations account for 70% of familial cases and approximately 8% of non-familial cases. These results also suggest that the commonness of the SDHD P81L mutation in North America is the result of both a founder effect and recurrent mutations.	Case:55 head and neck paraganglioma patients grouped into 10 families and 37 non-familial cases:US										
134453		Longevity	AGING	AGE		1	1q21	SHC1	153201397	153213464		Mooijaart SP 2004	15036421				SHC (Src homology 2 domain containing) transforming protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183001.3			KGB	6464	Hs.433795			Experimental gerontology. 2004 Feb;39(2):263-8	Variation in the SHC1 gene and longevity in humans.		600560	5395	1	2004	These data suggest that an association between the Met(410)Val polymorphism and longevity in humans may exist.	Cohort 30/30 30 young and 30 extreme long-lived subjects										
134457		holoprosencephaly	NEUROLOGICAL	NEUR	Holoprosencephaly	7	7q36	SHH	155285496	155297728		Schell-Apacik C 2003	12709790				Sonic hedgehog homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000193.2			KGB	6469	Hs.164537			Human genetics. 2003 Jul;113(2):170-7	SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.		600725	5396	1	2003												
134608		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p35-p31.3	SLC2A1	43164105	43197088		Kaku K 1990	1976557				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			Y Wang	6513	Hs.473721			Diabetes. 1990 Jan;39(1):49-56	Polymorphisms of HepG2/erythrocyte glucose-transporter gene. Linkage relationships and implications for genetic analysis of NIDDM.		138140	5404	1	1990												
134631		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Shimada F1995	7713316				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1	Japanese	Japan	Y Wang	6514	Hs.167584			Diabetologia. 1995 Feb;38(2):211-5	Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.		138160	5417	1	1995												
134645		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p13	SLC2A4	7125777	7132091		Choi WH 1991	1756912				Solute carrier family 2 (facilitated glucose transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042.2	Welsh		Y Wang	6517	Hs.380691			Diabetes. 1991 Dec;40(12):1712-8	Molecular scanning of insulin-responsive glucose transporter (GLUT4) gene in NIDDM subjects.		138190	5426	1	1991	We conclude that  mutations of the GLUT4 coding sequence are very uncommon in this population of subjects with typical NIDDM. Determining whether the Ile383 GLUT4 variant present in 3 diabetic subjects contributes in any way to their disease will require further study.											
134784		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Dick, D. M.  et al. 2003	12766633				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDPinfo	6531	Hs.406			Alcoholism, clinical and experimental research. 2003 May;27(5):868-79	Candidate genes for alcohol dependence: a review ofgenetic evidence from human studies.		126455	28400	2	2003	Review article											
135092		smoking behavior	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Munafo, M. R.  et al. 2005	16191748				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Nicotine & tobacco research. 2005 Oct;7(5):773-8	Association of serotonin transporter genotype with selective processing of smoking-related stimuli in current smokers and ex-smokers.		182138	19607	2	2005												
135021		anxiety disorder	PSYCH	PSY	Phobic Disorders|Cognition Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831			16314764				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Psychiatric genetics. 2005 Dec;15(4):305-6	Phobic anxiety in late-life in relationship to cognition and 5HTTLPR polymorphism		182138	13980	2	2005												
135020		suicidal behavior	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		De Luca, V.  et al. 2005	16274962				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			European neuropsychopharmacology. 2005	Association study between the novel functional polymorphism of the serotonin transporter gene and suicidal behaviour in schizophrenia.		182138	13979	2	2005												
135009		aphthous stomatitis	UNKNOWN	UNK	Stomatitis, Aphthous	17	17q11.1-q12	SLC6A4	25549031	25586831		Victoria, J. M.  et al. 2005	16091117				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Journal of oral pathology & medicine. 2005 Sep;34(8):494-7	Serotonin transporter gene polymorphism (5-HTTLPR) in patients with recurrent aphthous stomatitis.		182138	13967	2	2005	 Our findings demonstrate that RAS patients have a tendency to show polymorphism associated with anxiety-related traits.											
135005		londness dependence	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Gallinat, J.  et al. 2005	16025417			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Pharmacopsychiatry. 2005 Jul;38(4):158-60	Serotonergic effects of smoking are independent from the human serotonin transporter gene promoter polymorphism: evidence from auditory corticalstimulus processing.		182138	13963	2	2005			smoking (tobacco)									
134838	N	Neuroticism	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831	n	Flory JD et al. 1999	10089017				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 1999 Jan;4(1):93-6	Neuroticism is not associated with the serotonin transporter (5-HTTLPR) polymorphism.		182138	5507	1	1999												
134831	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Liu W et al. 1998	9845763				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese		KGB	6532	Hs.591192			Zhonghua yi xue yi chuan xue za zhi. 1998 Dec;15(6):345-8	Association of VNTR region of the human serotonin transporter gene with bipolar disorder among the Han Chinese		182138	5500	1	1998	 The data of association study might indicate a different mechanism of aetiology of bipolar disorder in male and female.											
134820		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	17	17q11.1-q12	SLC6A4	25549031	25586831		Li T et al. 2002	11920858				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese	China	KGB	6532	Hs.591192			American journal of medical genetics. 2002 Apr;114(3):329-35	Allelic association analysis of the dopamine D2 D3 5-HT2A and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects.		182138	5489	1	2002	Overall our results indicates that the HTR2A, 5-HTT, DRD3 and GABA(A)gamma2 genes are not likely to be a major genetic risk factor for heroin abuse in this population, with the exception of possible association between nasal inhalation and DRD2 promoter - 141DeltaC polymorphism.	Case:121 heroin addicts;Control:194:controls										
134813	Y	violent suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Bondy B et al. 2000	10822348			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			Molecular psychiatry. 2000 Mar;5(2):193-5	Possible association of the short allele of the serotonin transporter promoter gene polymorphism (5-HTTLPR) with violent suicide.		182138	5482	1	2000												
134787	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831	0.005	Mynett-Johnson L 2000	11121194	5-HTTLPR. intron 2 VNTR. and 3` UTR G/T			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			KGB	6532	Hs.591192			American journal of medical genetics. 2000 Dec;96(6):845-9	Multimarkerhaplotypes within the serotonin transporter gene suggest evidence of an association with bipolar disorder.		182138	5456	1	2000	Data from two and three polymorphic marker haplotypes revealed a number of marker combinations that showed evidence supportive of association; the most significant being for polymorphisms 5-HTTLPR and 3' UTR G/T (global chi(2), 12.91, df 3, P = 0.005). In addition, modest evidence of association also was observed for 5-HTTLPR alone	Cohort 106 trios										
141804		non-Hodgkin's lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin	21	21q22.3	SLC19A1	45759056	45786779			16365025				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.84190			Cancer epidemiology, biomarkers & prevention. 2005 Dec;14(12):2999-3003	Risk of non-Hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes		600424	26570	2	2005												
141807	Y	sporadic adult-onset lower motor neuron disease	OTHER	OTH	Motor Neuron Disease	5	15q13	SMN1	69381105	69410105		Moulard B et al. 1998	9585359				survival of motor neuron 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411			KGB	6606	Hs.535788			Annals of neurology. 1998 May;43(5):640-4	Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease.		600354	5571	1	1998												
135259		inherited myopathy	OTHER	OTH	Muscular Dystrophies	16	16q22-q23	SNTB2	67778550	67900456		Jones KJ 2003	12899872				Syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006750.3			KGB	6645	Hs.461117			Neuromuscular disorders. 2003 Aug;13(6):456-67	Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.		600027	5585	1	2003												
135271	N	diabetes, type 2	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2	21	21q22.1	SOD1	31953805	31963114	n	Ukkola O et al. 2001	11350569				superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			KGB	6647	Hs.443914			Journal of internal medicine. 2001 May;249(5):451-9	Lack of association between polymorphisms of catalase copper-zinc superoxide dismutase (SOD) extracellular SOD and endothelial nitric oxide synthase genes and macroangiopathy in patients with type 2 diabetes mellitus.		147450	5592	1	2001	 The polymorphism of catalase, Cu/Zn SOD and EC-SOD genes were not related to cardiovascular disease in type 2 diabetes mellitus patients. The eNOS Glu298Asp variant was associated with plasma VLDL-containing lipoproteins but not with macroangiopathy in diabetic male patients. The findings do not support the notion that the polymorphisms of the key antioxidative enzymes could be amongst the factors that explain the high prevalence of macroangiopathy in patients with type 2 diabetes mellitus.											
135365		neuropathy, diabetic	NEUROLOGICAL	NEUR		4	4p16.3-q21	SOD3	24406182	24411565		Chistyakov, D. A.  et al. 2001	11299047				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1	Russian		CDC GDPinfo	6649	Hs.2420			BMC medical genetics [electronic resource]. 2001 ;2:4	Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus.		185490	23528	2	2001	 Ala(-9)Val substitution in the Mn-SOD gene was associated with DN in a Russian population	Case:82 type 1 diabetic patients with diabetic nephropathy;Control:84 type 1 diabetic patients without diabetic:nephropathy										
135427	N	atopy	IMMUNE	IMM	Hypersensitivity, Immediate	16	16p11.2	SPN	29581800	29589324	n	Kruse S et al. 1998	9876225				sialophorin (gpL115, leukosialin, CD43)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001030288.1		Germany	KGB	6693	Hs.632188			International archives of allergy and immunology. 1998 Dec;117(4):244-7	Two common polymorphisms in the coding part of the CD43 gene are not associated with atopy.		182160	5618	1	1998	 We conclude that CD43 polymorphisms are unlikely to account for the observed linkage effect at 16p12-11. Whether the polymorphisms R337C and L341F adjacent to phosphorylation sites in the intracellular region of the protein alter the normal functioning of CD43 remains to be elucidated.											
135448	N	androgenetic alopecia	METABOLIC	MET	Alopecia	5	5p15	SRD5A1	6686499	6722675		Ha, S. J.  et al. 2003	12670724				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2	Korean	Korea	CDC GDPinfo	6715	Hs.552			Journal of dermatological science. 2003 Apr;31(2):135-41	Analysis of genetic polymorphisms of steroid 5alpha-reductase type 1 and 2 genes in Korean men with androgenetic alopecia.		184753	14066	2	2003	 These results suggest that polymorphisms of SRD5A1 and SRD5A2 genes may not be directly associated with the development of baldness or generation of different clinical phenotypes.	Case:66 patients with androgenetic alopecia;Control:92 healthy men										
135559		Asthma	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428		Shao C 2004	14767694				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Japanese	Japan	KGB	6778	Hs.524518			Journal of human genetics. 2004 ;49(3):115-22	Linkage and association of childhood asthma with the chromosome 12 genes.		601512	5668	1	2004												
135551	Y	Total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.028	Duetsch G 2002	11912176	A4671G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5660	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135547	Y	DRS	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	P=0.037	Duetsch G 2002	11912176	A4610G			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KGB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5656	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135539	N	Asthma. DRS. eosinophilia	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	C1570-->T			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5648	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135534	N	Asthma. DRS. BHR. eosinophilia. total IgE	IMMUNE	IMM	Asthma	12	12q13	STAT6	55775459	55791428	n	Duetsch G 2002	11912176	G1882A			Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	German		KCB	6778	Hs.524518			Human molecular genetics. 2002 Mar;11(6):613-21			601512	5643	1	2002	We conclude that  the human STAT6 gene is rather involved in the development of eosinophilia and changes in total IgE levels than contributing to the pathogenesis of asthma.											
135656	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections	X	Xq13.1	TAF1	70502838	70666979		Kremer Hovinga, J. A.  et al. 2004	14717966				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDPinfo	6872	Hs.158560			Journal of thrombosis and haemostasis. 2004 Jan;2(1):54-7	A functional single nucleotide polymorphism in the thrombin-activatable fibrinolysis inhibitor (TAFI) gene associates with outcome of meningococcal disease		313650	14129	2	2004	Survivors had a genotype frequency (4.0%) that was lower than in the general population. TAFI 325 variants affect the outcome of meningococcal disease.	Control:212 controls from the same geographic region;Case:50/176 patients who survived meningococcal disease and in 176 first-degree relatives of a patients series with meningococcal disease										
135717		dermatitis, atopic	IMMUNE	IMM	Dermatitis, Atopic	6	6p21.3	TAP1	32920963	32929726		Lee, H. J.  et al. 2001	11737038				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Korean	Korea	CDC GDPinfo	6890	Hs.352018			Clinical and experimental allergy. 2001 Dec;31(12):1867-74	Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis		170260	27233	2	2001	 This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.	Control:184 healthy controls;Case:53 atopic dermatitis patients										
135708		malaria; hypoglycemia; hyperparasitemia	INFECTION	INF	Malaria	6	6p21.3	TAP1	32920963	32929726		Niesporek, S.  et al. 2005	15686587				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	African children	Africa	CDC GDPinfo	6890	Hs.352018			International journal of immunogenetics. 2005 Feb;32(1):11-Jul	Polymorphisms of transporter associated with antigen processing type 1 (TAP1), proteasome subunit beta type 9 (PSMB9) and their common promoter in African children with different manifestations of malaria.		170260	23585	2	2005												
135764		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	TAP2	32897587	32914525		Runstadler, J. A.  et al. 2004	15343265				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Finnish	Finland	CDC GDPinfo	6891	Hs.502			Genes and immunity. 2004 Nov;5(7):562-71	HLA-DRB1, TAP2/TAP1, and HLA-DPB1 haplotypes in Finnish juvenile idiopathic arthritis: morecomplexity within the MHC.		170261	26609	2	2004	This observation may have implications for functional etiological differences between the pauciarticular and polyarticular JIA patients.	Case:234 Finnish JIA nuclear families:Finland;Control:639 elderly Finnish contol individuals										
135749		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Lin, H. J.  et al. 2004	15887980				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3		China	CDC GDPinfo	6891	Hs.502			Molecular diagnosis. 2004 ;8(4):245-52	Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma.		170261	23594	2	2004	 The immune system acts as an arbiter to help determine whether under stress a neuronal cell will survive or sacrifice itself to injuries. TAP1-1 and TAP1-2 play an important role in the immune system. TAP1-1 and TAP1-2 gene polymorphisms may, by way of post-transcriptional changes and altered regulation of gene expression, be involve the immune system in the development of POAG.	Control:105 healthy volunteers;Case:66 primary open angle glaucoma patients										
135783		Parkinsons disease; Alzheimers disease; ataxia; Huntingtons disease	NEUROLOGICAL	NEUR	Huntington Disease|Cerebellar Ataxia|Alzheimer Disease|Neurodegenerative Diseases|Parkinson Disease	6	6q27	TBP	170705395	170723872		Wu, Y. R.  et al. 2005	15365789				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDPinfo	6908	Hs.590872			J Neural Transm. 2005 Apr;112(4):539-46	Analysis of polyglutamine-coding repeats in the TATA-binding protein in different NEUROLOGICALenerative diseases.		600075	19762	2	2005												
135851	Y	glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	12	12q22-qter	TCF1	119900931	119924697		Jackson, A. E.  et al. 2004	15277395				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Indian	India	CDC GDPinfo	6927	Hs.567343			Diabetes. 2004 Aug;53(8):2122-5	Polymorphic Variations in the Neurogenic Differentiation-1, Neurogenin-3, and Hepatocyte Nuclear Factor-1{alpha} Genes Contribute to Glucose Intolerance in a South Indian Population		142410	25624	2	2004	In conclusion, we observed a combined effect of variations in NEUROD1, NEUROG3, and TCF1 in contributing to overall glucose intolerance in a South Indian population.	Cohort 454 subjects recruited as part of a population survey in South India south India 										
135836		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Sellers, E. A.  et al. 2002	12453961				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Canadian	Canada	CDC GDPinfo	6927	Hs.567343			Diabetes care. 2002 Dec;25(12):2202-6	The prevalence of the HNF-1alpha G319S mutation in Canadian aboriginal youth with type 2 diabetes.		142410	19774	2	2002	 These data support the association between the HNF-1alpha G319S mutation and early-onset type 2 diabetes in this population. Those with the mutation lacked clinical characteristics of insulin resistance (e.g., obesity and acanthosis nigricans) and had lower insulin levels, suggesting that an insulin-secretory and/or -production defect plays an important role in the development of diabetes in this group. Further investigation of the pathophysiology of the S319 homo- and heterozygote is needed because it may impact treatment and/or prevention of this disease.	Cohort 51 youth seen sequentially in a type 2 diabetes clinic 										
135908	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21-p12	TFAP2B	50894397	50923285	n	Jonsson EG et al. 2002	12270648				transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221			KGB	7021	Hs.33102			Neuroscience letters. 2002 Sep;330(3):290-2	No association between a transcription factor Activating Protein 2beta (AP-2beta) gene variant and schizophrenia.		601601	5767	1	2002	We conclude that  the investigated AP-2beta variant is not of major importance to schizophrenia in the investigated Swedish population.											
135947	Y	cleft lip and palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Ardinger HH et al. 1989	2570526				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			KGB	7039	Hs.170009			American journal of human genetics. 1989 Sep;45(3):348-53	Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate.		190170	5778	1	1989												
135946	Y	cutaneous malignant melanoma.	CANCER	CAN	Melanoma|Skin Neoplasms	2	2p13	TGFA	70527924	70634438		Hayward N et al. 1988	2902017				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			KGB	7039	Hs.170009			International journal of cancer. Journal international du cancer. 1988 Oct;42(4):558-61	A Taqi RFLP of the human TGF alpha gene is significantly associated with cutaneous malignant melanoma.		190170	5777	1	1988												
135978	Y	very low bone mass	METABOLIC	MET	Osteoporosis	19	19q13.2	TGFB1	46528490	46551656		Langdahl BL et al. 1997	9071481				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			KGB	7040	Hs.155218			Bone. 1997 Mar;20(3):289-94	A sequence variation: 713-8delC in the transforming growth factor-beta 1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic		190180	5801	1	1997												
135975	Y	osteoporosis	METABOLIC	MET	Osteoporosis|Spinal Injuries|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656	p=0.0005	Yamada Y 2001	11740340	C-509<--T and T869<--C	C-509<--T and T869<--C polymorphisms revealed that bone mineral density decreases and the susceptibility to osteoporosis increases with the number of T alleles. The serum concentration of TGF-b1 increased according to the rank order of T869C genotypes TT		Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Japan	KGB	7040	Hs.155218			Pharmacogenetics. 2001 Dec;11(9):765-71			190180	5798	1	2001												
136194		smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p15.5	TH	2141734	2149611		Anney, R. J.  et al. 2004	15077008				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDPinfo	7054	Hs.435609			Pharmacogenetics. 2004 Feb;14(2):73-81	Nicotine dependence in a prospective population-based study of adolescents: theprotective role of a functional tyrosine hydroxylase polymorphism		191290	19845	2	2004	Including these data, three independent studies, two of which use identical phenotypes, have now identified a protective relationship between the K4 allele of the functional HUMTH01-VNTR polymorphism and high-level smoking.	Cohort two independent Caucasian samples from the USA and Australia USA and Australia 										
136174		manic depressive disorders	PSYCH	PSY	Bipolar Disorder	11	11p15.5	TH	2141734	2149611		Korner J et al. 1994	7719703				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatric genetics. 1994 ;4(3):167-75	Association and haplotype analysis at the tyrosine hydroxylase locus in a combined German-British sample of manic depressive patients and controls.		191290	5857	1	1994												
136202	N	thrombophilia	OTHER	OTH	Thrombosis|Disease Susceptibility	20	20p12-cen	THBD	22974269	22978301	n	van der Velden PA et al. 1991	1651567				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			KGB	7056	Hs.2030			Thrombosis and haemostasis. 1991 May;65(5):511-3	A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia.		188040	5871	1	1991												
141869		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.3-q23	THY1	118794097	118799064		Aparicio JM 2004	1982251				Thy-1 cell surface antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006288.2	Japanese	Japan	Y Wang	7070	Hs.643513			Disease markers. 1990 Sep-Oct;8(5):283-94	Non-HLA genetic factors and insulin dependent diabetes mellitus in the Japanese: TCRA, TCRB and TCRG, INS, THY1, CD3D and ETS1		188230	7549	1	2004												
136400	N	periodontal disease	IMMUNE	IMM	Periodontal Diseases|Chronic Disease	9	9q32-q33	TLR4	119506430	119519587		Folwaczny, M.  et al. 2004	14738464				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Clinical and experimental immunology. 2004 Feb;135(2):330-5	Toll-like receptor (TLR) 2 and 4 mutations in periodontal disease		603030	23679	2	2004	Unlike in ulcerative colitis there was not observed an association between chronic periodontitis and the various mutations of the TLR 2 and 4 gene.	Control:122 healthy unrelated controls;Case:122 patients with chronic periodontal disease										
136394		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Rylander, R.  et al. 2005	16142747				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Sweden	CDC GDPinfo	7099	Hs.174312			American journal of industrial medicine. 2005 Oct;48(4):302-7	Organic dust induced inflammation--role of atopy and TLR-4 and CD14 gene polymorphisms.		603030	23673	2	2005			endotoxin									
136378		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587			16357190				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Cancer research. 2005 Dec;65(24):11771-8	Sequence variants of toll-like receptor 4 and susceptibility to prostate cancer		603030	19884	2	2005												
136363		chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Rohde, G.  et al. 2005	16219455	Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDPinfo	7099	Hs.174312			Respiratory medicine. 2005	Association of the ASP299GLY TLR4 polymorphism with COPD.		603030	14316	2	2005	We conclude that  the frequency of the Asp299Gly polymorphism is decreased in COPD patients. Unaltered LPS signal transduction by TLR4 may be important for the development of COPD.											
136327	Y	Systemic responsiveness to lipopolysaccharide	IMMUNE	IMM	Inflammation	9	9q32-q33	TLR4	119506430	119519587		Michel O 2003	14610481				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			KGB	7099	Hs.174312			The Journal of allergy and clinical immunology. 2003 Nov;112(5):923-9	Systemic responsiveness to lipopolysaccharide and polymorphisms in the toll-like receptor 4 gene in human beings.		603030	5909	1	2003	 The single-nucleotide polymorphisms at position +896 or +1196 in the TLR-4 gene is associated with systemic inflammatory hyporesponsiveness to inhaled lipopolysaccharide.	Cohort 116 healthy subjects	lipopolysaccharide									
136422	N	typhoid fever	INFECTION	INF	Typhoid Fever|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247		Dunstan, S. J.  et al. 2005	15747241				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3	Vietnamese	Vietnam	CDC GDPinfo	7100	Hs.135853			The Journal of infectious diseases. 2005 Apr;191(7):1068-71	Host susceptibility and clinical outcomes in toll-like receptor 5-deficient patients with typhoid fever in Vietnam.		603031	19887	2	2005	TLR5 may not play an important role in TLR-stimulated innate immune responses to human infection with Salmonella enterica serovar Typhi. Initiation of these responses may rely on other TLRs that recognize different bacterial ligands.	Control:281 ethnically matched controls;Case:565 patients with typhoid fever										
119328		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21	CLDN5	17890549	17892860		Wei, J.  et al. 2005	16181776				Claudin 5 (transmembrane protein deleted in velocardiofacial syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003277.2			CDC GDPinfo	7122	Hs.505337			Prostaglandins, leukotrienes, and essential fatty acids. 2005 Dec;73(6):441-5	A study of the combined effect of the CLDN5 locus and the genes for the phospholipid metabolism pathway in schizophrenia.		602101	18929	2	2005												
136629		systemic lupus erythematosus	IMMUNE	IMM	Nephritis|Lupus Erythematosus, Systemic	6	6p21.3	TNF	31651328	31654091		Fong KY 1996	8779554				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese		Y Wang	7124	Hs.241570			Annals of the Academy of Medicine, Singapore. 1996 Jan;25(1):90-3	Polymorphism of the regulatory region of tumour necrosis factor alpha gene in patients with systemic lupus erythematosus.		191160	6105	1	1996												
136593		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	TNF	31651328	31654091		Culpan D 2003	12962917				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Neuroscience letters. 2003 Oct;350(1):61-5	Tumour necrosis factor-alpha gene polymorphisms and Alzheimer's disease.		191160	6069	1	2003												
136587		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Moghaddam PH 2004	9287056				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasians		Y Wang	7124	Hs.241570			Diabetes. 1997 Sep;46(9):1514-5	TNFa microsatellite polymorphism modulates the risk of IDDM in Caucasians with the high-risk genotype HLA DQA1*0501-DQB1*0201/DQA1*0301-DQB1*0302. Belgian Diabetes Registry.		191160	6063	1	2004												
136582		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Monos DS 2004	8847231				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			Y Wang	7124	Hs.241570			Human immunology. 1995 Oct;44(2):70-9	Genetic polymorphism of the human tumor necrosis factor region in insulin-dependent diabetes mellitus. Linkage disequilibrium of TNFab microsatellite alleles with HLA haplotypes.		191160	6058	1	2004												
136573	Y	Helicobacter pylori cagA subtype infection	INFECTION	INF	Helicobacter Infections|Stomach Diseases|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Yea SS et al. 2001	11533078			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of clinical pathology. 2001 Sep;54(9):703-6	Association between TNF-alpha promoter polymorphism and Helicobacter pylori cagA subtype infection.		191160	6049	1	2001	 TNF-alpha -308A polymorphism was significantly related to infection with the H pylori cagA subtype in Korean patients with gastric disease.											
136556	Y	bone mineral density	METABOLIC	MET		6	6p21.3	TNF	31651328	31654091		Ota N et al. 2002	12396374			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Annals of human biology. 2002 Sep-Oct;29(5):550-8	Association of a single nucleotide variant in the human tumour necrosis factor alpha promoter region with decreased bone mineral density.		191160	6032	1	2002	 Given the lines of evidence from different genetic studies, we suggest that TNFalpha may play a role in pathogenesis of osteoporosis.											
136553	N	actinic prurigo	OTHER	OTH	Photosensitivity Disorders|Prurigo	6	6p21.3	TNF	31651328	31654091	n	Grabczynska SA et al. 2001	11722460			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Clinical and experimental dermatology. 2001 Nov;26(8):700-4	Tumour necrosis factor alpha promoter polymorphism at position -308 is not associated with actinic prurigo.		191160	6029	1	2001												
136542	Y	Scarring trachoma	OTHER	OTH	Chlamydia Infections|Trachoma	6	6p21.3	TNF	31651328	31654091		Conway DJ et al. 1997	9038309			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Infection and immunity. 1997 Mar;65(3):1003-6	Scarring trachoma is associated with polymorphism in the tumor necrosis factor alpha (TNF-alpha) gene promoter and with elevated TNF-alpha levels in tear fluid.		191160	6018	1	1997												
136539	Y	cerebral malaria	INFECTION	INF	Malaria, Cerebral|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		McGuire W et al. 1994	7935762			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Gambia	KGB	7124	Hs.241570			Nature. 1994 Oct;371(6497):508-10	Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria.		191160	6015	1	1994												
136530	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Heijmans BT et al. 2002	12058258	-308G/A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	elderly population		KGB	7124	Hs.241570			Genes and immunity. 2002 Jun;3(4):225-8	Association of the tumour necrosis factor alpha -308G/A polymorphism with the risk of diabetes in an elderly population-based cohort.		191160	6006	1	2002												
136528		normal variation	NORMALVARIATION	NV	Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Ackerman H et al. 2003	12702205				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Gambia AND Malawi	Malawi|Gambia	KGB	7124	Hs.241570			Genome biology. 2003 ;4(4):R24	Haplotypic analysis of the TNF locus by association efficiency and entropy.		191160	6004	1	2003	 The TNF locus in the Gambian and Malawi sample is haplotypically diverse and has a rich history of intragenic recombination. As a consequence, a large proportion of TNF SNPs must be typed to detect a disease-modifying SNP at this locus. The most informative subset of SNPs to genotype differs between the two populations.											
136506	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Cerebrovascular Disorders|Cardiovascular Diseases|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cvetkovic JT et al. 2002	11838837				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			The Journal of rheumatology. 2002 Feb;29(2):212-9	Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha IL-1beta and IL-1Ra genes.		191160	5982	1	2002	 The Al allele of TNF-alpha associates with RA. Genotypes A1A2 of TNF-alpha and A2A2 of IL-1beta are associated with more severe disease. The allelic combination A1IL-1beta/A2 IL-1Ra is less often present in RA patients who developed cardiovascular complications.											
136458	Y	Obesity- associated hypertension ???????	METABOLIC	MET	Hypertension|Obesity	6	6p21.3	TNF	31651328	31654091	p=0.02	Pausova Z 2000	10904006				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	French Canadians		TJB	7124	Hs.241570			Hypertension. 2000 Jul;36(1):14-9			191160	5934	1	2000												
136906		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	6	6p21.3	TNF	31651328	31654091		Forre, O.  et al. 2002	12195624				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDPinfo	7124	Hs.241570			Scandinavian journal of rheumatology. 2002 ;31(3):123-8	Genetic epidemiology of juvenile idiopathic arthritis.		191160	28403	2	2002	Review article											
137062		uveitis	IMMUNE	IMM	Uveitis, Anterior|Acute Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Kuo, N. W.  et al. 2005	15851552				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Investigative ophthalmology & visual science. 2005 May;46(5):1565-71	TNF-857T, a genetic risk marker for acute anterior uveitis.		191191	26721	2	2005	 A significant difference in the frequency of TNF-857T allele was found in patients with IAU. There was a trend toward the development of inflammation-related complications in HLA-B27(+) patients with IAU who were carriers of TNFRSF1A-201T or TNFRSF1A-1135T alleles. Genetic variations in these proinflammatory mediators and their receptors appear to influence the susceptibility and severity of the inflammatory response within the eyes of patients during the development of IAU.	Control:controls;Case:98 white patients with acute anterior uveitis:UK										
137065		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Criswell, L. A.  et al. 2004	15457442				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Arthritis and rheumatism. 2004 Sep;50(9):2750-6	The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept.		191191	27869	2	2004	 Genetic variation in the HLA-DRB1 and the LTA-TNF regions is significantly associated with response to treatment of early RA. These findings may have clinical application through the identification of patients who are most likely to benefit from treatment with methotrexate or etanercept.	Cohort 457 patients with early rheumatoid arthritis (duration of < or =3 years) who participated in a randomized controlled trial comparing weekly methotrexate and 2 dosages of etanercept (10 mg twice weekly and 25 mg twice weekly) 	etanercept methotrexate									
137120	Y	soft tissue sarcoma	CANCER	CAN	Sarcoma|Soft Tissue Neoplasms|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Stratton MR et al. 1990	2216456				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Oncogene. 1990 Sep;5(9):1297-301	Mutation of the p53 gene in human soft tissue sarcomas: association with abnormalities of the RB1 gene.		191170	6143	1	1990												
137123	Y	Lung cancer	CANCER	CAN	Carcinoma, Adenosquamous|Adenocarcinoma|Adenocarcinoma, Papillary|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms|Neoplasm Invasiveness	17	17p13.1	TP53	7505821	7531642		Guang SG et al. 1997	9379505				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Japanese journal of clinical oncology. 1997 Aug;27(4):211-5	Association between p53 mutation and clinicopathological features of non-small cell lung cancer.		191170	6146	1	1997												
137133		schizophrenia	PSYCH	PSY	Schizophrenia	17	17p13.1	TP53	7505821	7531642		Chiu HJ et al. 2001	11814547				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Psychiatry research. 2001 Dec;105(3):279-83	Association study of the p53-gene Pro72Arg polymorphism in schizophrenia.		191170	6156	1	2001												
137137		PML	OTHER	OTH	Leukoencephalopathy, Progressive Multifocal|Acquired Immunodeficiency Syndrome	17	17p13.1	TP53	7505821	7531642		Power C et al. 2000	10680816				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Neurology. 2000 Feb;54(3):743-6	AIDS- and non-AIDS-related PML association with distinct p53 polymorphism.		191170	6160	1	2000												
137143		colorectal carcinoma	CANCER	CAN	Colorectal Neoplasms	17	17p13.1	TP53	7505821	7531642		Matsushita K et al. 1996	8797864				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			International journal of cancer. Journal international du cancer. 1996 Aug;69(4):259-64	Reduced messenger RNA expression level of p21 CIP1 in human colorectal carcinoma tissues and its association with p53 gene mutation.		191170	6166	1	1996												
137169		breast cancer	CANCER	CAN	Carcinoma, Medullary|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness	17	17p13.1	TP53	7505821	7531642		Turpin E et al. 1999	10618725			splice variant	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Oncogene. 1999 Dec;18(54):7834-7	Stress-induced aberrant splicing of TSG101: association to high tumor grade and p53 status in breast cancers.		191170	6192	1	1999												
137184	Y	alpha-particle carcinogenesis	CANCER	CAN	Liver Neoplasms|Neoplasms, Radiation-Induced	17	17p13.1	TP53	7505821	7531642		Wada I et al. 1999	10564952				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Radiation research. 1999 Dec;152(6 Suppl):S125-7	High rate of small TP53 mutations and infrequent loss of heterozygosity in malignant liver tumors associated with thorotrast: implications for alpha-particle carcinogenesis.		191170	6207	1	1999												
137189		thyroid tumor progression	OTHER	OTH	Carcinoma|Adenocarcinoma|Adenocarcinoma, Papillary|Thyroid Neoplasms|Chromosome Deletion	17	17p13.1	TP53	7505821	7531642		Ito T et al. 1993	8100564				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Japanese journal of cancer research. 1993 May;84(5):526-31	Genetic alterations in thyroid tumor progression: association with p53 gene mutations.		191170	6212	1	1993												
137196	Y	breast cancer survival	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Shiao YH et al. 1995	7882357				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer research. 1995 Apr;55(7):1485-90	Racial disparity in the association of p53 gene alterations with breast cancer survival.		191170	6219	1	1995												
137216		gastric cancer	CANCER	CAN	Stomach Neoplasms|Gastritis|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Zhang ZW 2004	15104366	codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	caucasian		KGB	7157	Hs.408312			Digestive diseases and sciences. 2004 Feb;49(2):254-9	A comparison study of gastric cancer risk in patients with duodenal and gastric ulcer: roles of gastric mucosal histology and p53 codon 72 polymorphism.		191170	6239	1	2004	There was no significant difference in the distribution patterns between gastric ulcer and noncardiac or cardiac cancer or between gastric and duodenal ulcer. These findings may be a reflection of differences in the interaction between p53 codon 72 polymorphism and local factors in the stomach.	Cohort 397 Caucasian patients with gastric and duodenal ulcer										
137224		oesophageal adenocarcinoma.	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	17	17p13.1	TP53	7505821	7531642		Doak SH 2003	14583777				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Wales	KGB	7157	Hs.408312			British journal of cancer. 2003 Nov;89(9):1729-35	Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.		191170	6247	1	2003												
137232		Li-Fraumeni syndrome	CANCER	CAN	Li-Fraumeni Syndrome	17	17p13.1	TP53	7505821	7531642		Trkova M 2003	12885464				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			KGB	7157	Hs.408312			Cancer genetics and cytogenetics. 2003 Aug;145(1):60-4	A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.		191170	6255	1	2003												
137253		oral cancer	CANCER	CAN		17	17p13.1	TP53	7505821	7531642		Li, Y. Q.  et al. 2005	16255923			intron	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Zhonghua kou qiang yi xue za zhi. 2005 Sep;40(5):386-9	[p53 gene intron 7 polymorphism and its association with oral neoplasms.]		191170	14455	2	2005	 There are two polymorphic points in the 7th intron of human p53 gene, which could be associated with genetic susceptibility of oral neoplasms. T-G allele may be the risk factor of oral neoplasms.											
137264		leukemia	CANCER	CAN	Leukemia, B-cell, Chronic	17	17p13.1	TP53	7505821	7531642		Austen, B.  et al. 2005	16014569				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Blood. 2005 Nov;106(9):3175-82	Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.		191170	23776	2	2005												
137280		Li-Fraumeni Syndrome	CANCER	CAN	Li-Fraumeni Syndrome|Disease Progression|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Bougeard, G.  et al. 2005	16258005				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDPinfo	7157	Hs.408312			Journal of medical genetics. 2005	Impact of the MDM2 SNP309 and TP53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.		191170	23792	2	2005												
137439		thiopurine toxicity	UNKNOWN	UNK		6	6p22.3	TPMT	18236523	18263353		Lu, H. F.  et al. 2005	16164497				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDPinfo	7172	Hs.444319			Journal of clinical pharmacy and therapeutics. 2005 Oct;30(5):491-6	Molecular analysis of the thiopurine S-methyltransferase alleles in Bolivians and Tibetans.		187680	14521	2	2005	 As with Caucasian populations, TPMT*3A is the most prevalent mutant allele in Bolivians. Our results may be of value in helping to guide the prescription of thiopurine drugs in these populations.											
141877		rectal cancer	CANCER	CAN	Rectal Neoplasms	18	18p11.32	TYMS	647650	663492		Villafranca, E.  et al. 2001	11251009			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Journal of clinical oncology. 2001 Mar;19(6):1779-86	Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer.		188350	14544	2	2001	 This preliminary study suggests that TS repetitive-sequence polymorphisms are predictive for tumor downstaging. TR sequences in TS promoter may be useful as a novel means of predicting response to preoperative 5-FU-based chemoradiation.	Cohort 65 patients with rectal cancer 	5-flurouracil									
141880		colorectal cancer	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Luo, H. R.  et al. 2002	11989786				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Chinese		CDC GDPinfo	7298	Hs.592338			Biochemical genetics. 2002 Feb;40(2-Jan):41-51	Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles.		188350	14548	2	2002	The frequencies of the TSER allele 2 and 3 were 18.82 and 81% in totally unrelated Chinese samples, respectively, while the frequency of allele 3 was variable in different Chinese populations with a range from 62 to 95%.	Cohort 699 Chinese from 9 Han groups, 8 ethnic populations, and 36 individuals representing a three-generation pedigree China  										
141899		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	18	18p11.32	TYMS	647650	663492		Krajinovic, M.  et al. 2005	16130010				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			The pharmacogenomics journal. 2005 ;5(6):374-80	Combining several polymorphisms of thymidylate synthase gene for pharmacogenetic analysis.		188350	14579	2	2005												
141910	N	homocysteine	METABOLIC	MET		18	18p11.32	TYMS	647650	663492		Brown, K. S.  et al. 2003	14586640				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Caucasian		CDC GDPinfo	7298	Hs.592338			Human genetics. 2004 Jan;114(2):182-5	The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.		188350	23834	2	2003	Our findings indicate that the TYMS 3R3R genotype is not a determinant of homocysteine in this sample of healthy young Caucasian adults from Northern Ireland.	Cohort 392 randomly selected healthy young Northwestern European men and women Northern Ireland 										
141920		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Oterino, A.  et al. 2005	15953655				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Brain research  Molecular brain research. 2005 Sep;139(1):163-8	Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele.		188350	25742	2	2005	We conclude that  the pathogenetic role of the MTHFR T677 allele in migraine is modulated by functional polymorphisms of TS and MTHFD1.											
141931		drug hypersensitivity	METABOLIC	MET	Leukemia, Lymphocytic, Acute	18	18p11.32	TYMS	647650	663492		de Jonge, R.  et al. 2005	15797993				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDPinfo	7298	Hs.592338			Blood. 2005 Jul;106(2):717-20	Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.		188350	27875	2	2005	In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients.	Cohort 157 pediatric acute lymphoblastic leukemia patients 	methotrexate									
137555		renin activity; aldosterone	CARDIOVASCULAR	CARD	Hypertension	X	Xp11.23	UBE1	46935203	46959471		Tiago, A. D.  et al. 2001	11447495				Ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003334.2	South African	South Africa	CDC GDPinfo	7317	Hs.533273			Cardiovascular journal of South Africa. 2001 Apr-May;12(2):75-80	Association study of eight candidate genes with renin status in mild-to-moderate hypertension in patients of African ancestry.		314370	27876	2	2001	 These results do not support a substantial individual role for the gene candidates studied in contributing to plasma RAA system profiles in black South African HTs. However, a potential small role for some loci may exist, and epistasis or genotype-phenotype interactions as well as alternative inheritance models and variants still need to be evaluated.	Cohort 59 black subjects with mild-to moderate hypertension off therapy and on ad libitum diet South Africa 										
137577		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Movement Disorders|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203		Maraganore, D. M.  et al. 2003	12784265				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDPinfo	7345	Hs.518731			Movement disorders. 2003 Jun;18(6):631-6	Complex interactions in Parkinson's disease: atwo-phased approach.		191342	25747	2	2003	Our findings are consistent with the hypothesis that PD is a multigenic disorder of the UPS.	Control:185:controls;Case:298 unrelated Parkinson's disease cases										
137603	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Body Weight	11	11q13	UCP2	73363363	73371537	n	Cassell PG 1999	10382588	Exon 8			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	South Indian	India|Great Britain	TJB	7351	Hs.80658	body mass		Diabetologia. 1999 Jun;42(6):688-92			601693	6328	1	1999	We have described a UCP2 gene exon 8 variant that may affect susceptibility to weight gain by influencing regulation of leptin.											
137613		obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Le Fur S 2004	14693721	-866 G/A		5' promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			KGB	7351	Hs.80658			Diabetes. 2004 Jan;53(1):235-9	The common -866 G/A polymorphism in the promoter of uncoupling protein 2 is associated with increased carbohydrate and decreased lipid oxidation in juvenile obesity.		601693	6338	1	2004												
137624		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q13	UCP2	73363363	73371537		Reis, A. F.  et al. 2004	15308133			promoter	Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	French	France	CDC GDPinfo	7351	Hs.80658			Molecular genetics and metabolism. 2004 Aug;82(4):339-44	A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes.		601693	14619	2	2004	In conclusion, a common polymorphism in the promoter region of the UCP2 gene modulates triglycerides and cholesterol levels in French Caucasian subjects with type 2 diabetes. The implications of this effect in the evolution of type 2 diabetes and its macrovascular complications deserve to be investigated.	Cohort 681 type 2 diabetic patients 										
137649	Y	dietary intake and body composition	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Damcott CM 2004	15045692				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			KGB	7352	Hs.101337			Metabolism:  clinical and experimental. 2004 Apr;53(4):458-64	Genetic variation in uncoupling protein 3 is associated with dietary intake and body composition in females.		602044	6347	1	2004	These results support a role for UCP3 in fuel substrate management and energy metabolism, which may influence body weight regulation.	Cohort 722 nondiabetic participatns of the San Luis Valley Diabetes Stdy										
133893	Y	Asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243	P=0.047	Choi M 2000	11193766	(GTTT)n polymorphism			secretoglobin, family 1A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			KCB	7356	Hs.523732			Annals of the New York Academy of Sciences. 2000 ;923:303-6			192020	6355	1	2000												
137682		morphine glucuronidation; androsterone; menthol	OTHER	OTH		4	4q13	UGT2B7	69996813	70013293		Bhasker, C. R.  et al. 2000	11186130				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Pharmacogenetics. 2000 Nov;10(8):679-85	Genetic polymorphism of UDP-glucuronosyltransferase 2B7 (UGT2B7) at amino acid 268: ethnic diversity ofalleles and potential clinical significance.		600068	14684	2	2000	Although the UGT2B7 polymorphism characterized here is probably not associated with altered enzyme activity, the results highlight the need to consider ethnic variability in assessing the consequences of UGT polymorphisms.	Cohort 91/84 unrelated Caucasians (n=91) and unrelated Japanese (n=84) individuals 										
137684		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	4	4q13	UGT2B7	69996813	70013293		Lin, G. F.  et al. 2004	15615884	C802T (His268Tyr)			UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1	Chinese	China	CDC GDPinfo	7364	Hs.631944			Toxicological sciences. 2005 May;85(1):502-6	An Association of UDP-Glucuronosyltransferase 2B7 C802T (His268Tyr) Polymorphism with Bladder Cancer in Benzidine-Exposed Workers in China		600068	14689	2	2004	This study points for the first time to an association between a homozygous mutant genotype of human UDP-glucuronosyltransferase 2B7 catalyzing the biotransformation of benzidine and an elevated bladder cancer risk for formerly benzidine-exposed workers of the dyestuff industry.	Control:156/95/113/105 non-diseased cohort members (156 men, 95 women) taken as work-related control and unexposed healthy individuals (113 men, 105 women);Case:36 benzidine exposed workers in the Chinese dyestuff industry diagnosed with bladder cancer										
137686		bladder cancer	CANCER	CAN		4	4q13	UGT2B7	69996813	70013293		Lin, G. F.  et al. 2005	15689421				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDPinfo	7364	Hs.631944			Toxicological sciences. 2005 May;85(1):657-65	Inhibition of voltage-gated potassium currents by gambierol in mouse taste cells.		600068	20122	2	2005	This study points for the first time to an association between a homozygous mutant genotype of human UDP-glucuronosyltransferase 2B7 catalyzing the biotransformation of benzidine and an elevated bladder cancer risk for formerly benzidine-exposed workers of the dyestuff industry.	Control:156/95/113/105 non-diseased cohort members (156 men, 95 women) as work-related control and unexposed healthy individuals (113 men, 105 women);Case:36 bladder cancer cases who were members of a cohort of benzidine exposed workers in the Chinese dyestuff industry	benzidine									
137701	Y	diabetes, type 2; metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X	1	1q22-q23	USF1	159275664	159282381		Ng, M. C.  et al. 2005	16132950				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	Chinese	China	CDC GDPinfo	7391	Hs.414880			Diabetologia. 2005 Oct;48(10):2018-24	The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population.		191523	20127	2	2005												
137722		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Inflammation	1	1p32-p31	VCAM1	100957884	100977189		Rosner, S. A.  et al. 2005	16184405				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDPinfo	7412	Hs.109225			Human genetics. 2005 Nov;118(2):287-94	Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician's Health Study.		192225	27879	2	2005			smoking (tobacco)									
137728	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081	0.0263	Fukazawa T 2000	10465499	bb			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	KGB	7421	Hs.524368			Journal of the neurological sciences. 1999 Jun;166(1):47-52			601769	6373	1	2000	The results indicate for the first time an association of MS with VDRG polymorphism, which may be involved in pathogenesis of MS, or in the linkage disequilibrium of VDRG to another pathogenic gene loci. 											
137734	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081	0.015	Xu Y 2003	12540499	T variant (f allele)			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian subjects who had undergone radial prostatectomy between 1984 and 1992		KEW	7421	Hs.524368			Cancer epidemiology, biomarkers & prevention. 2003 Jan;12(1):23-7			601769	6379	1	2003												
137746	Y	radiographic osteoarthritis at the knee	OTHER	OTH	Osteoporosis|Osteoarthritis	12	12q12-q14	VDR	46521586	46585081		Uitterlinden AG et al. 1997	9218501				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of clinical investigation. 1997 Jul;100(2):259-63	Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee.		601769	6391	1	1997												
137756	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Uitterlinden AG et al. 1996	8864898				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Journal of bone and mineral research. 1996 Sep;11(9):1241-8	A large-scale population-based study of the association of vitamin D receptor gene polymorphisms with bone mineral density.		601769	6401	1	1996												
137757		bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Zhao J et al. 1997	9594305				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese		KGB	7421	Hs.524368			Chinese medical journal. 1997 May;110(5):366-71	Polymorphisms of vitamin D receptor gene and its association with bone mineral density and osteocalcin in Chinese.		601769	6402	1	1997	 Allele frequencies of VDR gene in Chinese are different from those in Caucasians. VDR gene polymorphisms are associated with BMD in Chinese, but in a different pattern from other reports. Further study on predicting function of VDR for osteoporosis is necessary.											
137766	Y	bone mineral density	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Zhao J et al. 1997	10453562	bb or aa genotype			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Chinese	China	KGB	7421	Hs.524368			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 1997 Aug;19(4):252-6	The association between vitamin D receptor gene polymorphisms bone mineral density and osteocalcin in Chinese women		601769	6411	1	1997	 There was some association between VDR genotypes and BMD in Chinese women. Its function in predicting osteoporosis still requires further study.											
137771	Y	psoriasis	IMMUNE	IMM	Psoriasis	12	12q12-q14	VDR	46521586	46585081		Park BS et al. 1999	9886274				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			The Journal of investigative dermatology. 1999 Jan;112(1):113-6	Vitamin D receptor polymorphism is associated with psoriasis.		601769	6416	1	1999												
137782	Y	bone mass	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12q12-q14	VDR	46521586	46585081		Kim JG et al. 2001	11355046				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean	Korea	KGB	7421	Hs.524368			Menopause (New York, NY). 2001 May-Jun;8(3):222-8	Association of vitamin D receptor and estrogen receptor gene polymorphisms with bone mass in postmenopausal Korean women.		601769	6427	1	2001	 ER polymorphisms, singly and in relation to VDR FokI polymorphism, influence bone mass in Korean women.											
137788	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Gong G et al. 1999	10367030				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Osteoporosis international. 1999 ;9(1):55-64	The association of bone mineral density with vitamin D receptor gene polymorphisms.		601769	6433	1	1999												
137791	Y	bone mineral density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Salamone LM et al. 1996	8845602	Trochanter BMD waslower in those with genotype BB versus bb			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			Osteoporosis international. 1996 ;6(1):63-8	The association between vitamin D receptor gene polymorphisms and bone mineral density at the spine hip and whole-body in premenopausal women.		601769	6438	1	1996												
137798	Y	diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 2	12	12q12-q14	VDR	46521586	46585081		Ortlepp JR et al. 2001	11678976				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Germany	KGB	7421	Hs.524368			Diabetic medicine. 2001 Oct;18(10):842-5	The vitamin D receptor gene variant is associated with the prevalence of type 2 diabetes mellitus and coronary artery disease.		601769	6445	1	2001	 The genotype of the vitamin D receptor polymorphism determines the prevalence of Type 2 diabetes mellitus and coronary artery disease in a high-risk cohort population.											
137805	Y	Osteoarthritis	AGING	AGE	Osteoarthritis, Hip|Hip Dislocation, Congenital|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Granchi D 2004	12360016	BsmI polymorphism of the vitamin D receptor			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian-total joint replacement		KGB	7421	Hs.524368	Secondary to Hip Dysplasia		Clinical orthopaedics and related research. 2002 Oct;(403):108-17	Association of two gene polymorphisms with osteoarthritis secondary to hip dysplasia.		601769	6452	1	2004	These results indicate that genetic markers could contribute to the understanding of the natural history of this disease.	Case:143 patients having a total hip replacement for idiopathic osteoarthritis or osteoarthritis secondary to developmental hip dysplasia										
137813		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Acute Disease|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Motohashi Y 2003	12843155				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Japan	KGB	7421	Hs.524368			The Journal of clinical endocrinology and metabolism. 2003 Jul;88(7):3137-40	Vitamin D receptor gene polymorphism affects onset pattern of type 1 diabetes.		601769	6460	1	2003												
137822	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	12	12q12-q14	VDR	46521586	46585081		Ye WZ et al. 2001	11454514				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			KGB	7421	Hs.524368			European journal of endocrinology. 2001 Aug;145(2):181-6	Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset.		601769	6469	1	2001	 VDR is not a major gene for T2DM in French Caucasians. However, polymorphisms in the VDR gene are associated with the susceptibility to obesity in subjects with early-onset T2DM. The pathophysiological mechanisms of these associations remain unexplained, but they could be related to a direct effect of vitamin D in adypocyte differentiation and metabolism, or to an indirect effect by modulation of insulin secretion.											
137913		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		De Jong, M. M.  et al. 2002	12433710				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDPinfo	7421	Hs.524368			Cancer epidemiology, biomarkers & prevention. 2002 Nov;11(11):1332-52	Low-penetrance genes and their involvement in colorectal cancer susceptibility.		601769	28528	2	2002	Review article											
137930	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p12	VEGFA	43845930	43862201		Lin, C. C.  et al. 2003	12893367	(-460 C/T )			Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Urology. 2003 Aug;62(2):374-7	Vascular endothelial growth factor gene-460 C/T polymorphism is a biomarker for prostate cancer.		192240	14743	2	2003	 The Bst U I polymorphism of the VEGF gene is a suitable genetic marker of prostate cancer but cannot be used in the prediction of the outcome of patients who have received hormonal therapy.	Control:119 healthy people;Case:96 prostate cancer patients	hormone therapy									
137949		breast cancer	CANCER	CAN	Breast Neoplasms	6	6p12	VEGFA	43845930	43862201		Lu, H.  et al. 2005	15958542				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			Cancer research. 2005 Jun;65(12):5015-9	Association of genetic polymorphisms in the VEGF gene with breast cancer survival.		192240	14762	2	2005												
137972		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Smith, K. C.  et al. 2004	15265021				Vascular endothelial growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366.1			CDC GDPinfo	7422	Hs.73793			European journal of immunogenetics. 2004 Aug;31(4):167-73	Cytokine gene polymorphisms and breast cancer susceptibility and prognosis.		192240	27670	2	2004	These results suggest that the role of cytokine promoter SNPs in both susceptibility to and prognosis in breast cancer requires further investigation in a larger study.	Case:144 female breast cancer patients;Control:263 cancer-free population controls										
137976	Y	von Hippel-Lindau syndrome (VHL).	CANCER	CAN	Pheochromocytoma|Carcinoma, Renal Cell|Hemangioblastoma|Adrenal Gland Neoplasms|Cerebellar Neoplasms|Kidney Neoplasms|Neoplastic Syndromes, Hereditary|Retinal Diseases|Angiomatosis|Chromosome Aberrations|Chromosome Deletion	3	3p26-p25	VHL	10158318	10168746		Decker HJ et al. 1994	7923076				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			KGB	7428	Hs.517792			Cancer genetics and cytogenetics. 1994 Oct;77(1):13-Jan	Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL).		608537	6489	1	1994												
138001	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9p24	VLDLR	2611792	2644485	n	Pritchard ML et al. 1996	8761993				Very low density lipoprotein receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003383.3	caucasian	United States	KGB	7436	Hs.370422			Neuroscience letters. 1996 May;209(2):105-8	No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians.		192977	6500	1	1996												
138036		thromboembolism, venous	CARDIOVASCULAR	CARD		12	12p13.3	VWF	5928300	6104097		Tirado, I.  et al. 2005	15735796				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDPinfo	7450	Hs.440848			Thrombosis and haemostasis. 2005 Mar;93(3):468-74	The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism.		193400	25776	2	2005	In conclusion, high FVIII levels and non-O blood groups, likely those with the A(1) allele, are independent risk factors for venous thromboembolism and should be considered in evaluating of thrombophilia.	Control:250 unrelated controls;Case:250 patients with venous thrombosis										
138064	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Bohr, V. A.  et al. 2004	15246744				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2	Caucasian		CDC GDPinfo	7486	Hs.632050			Mechanisms of ageing and development. 2004 Jul;125(7):491-6	Werner syndrome protein 1367 variants and disposition towards coronary artery disease in Caucasian patients.		604611	20186	2	2004	We conclude that  the C/R polymorphism does not affect enzyme function or localization and does not influence CAD incidence in the BLSA cohort.	Case subjects with coronary artery disease drawn from the Baltimore Longitudinal Study of Aging;Control healthy individuals										
138096		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	9	9q22.3	XPA	99477011	99499460		Gu, J.  et al. 2005	15746040				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDPinfo	7507	Hs.591907			Clinical cancer research. 2005 Feb;11(4):1408-15	Nucleotide excision repair gene polymorphisms and recurrence after treatment for superficial bladder cancer.		278700	27351	2	2005	 These data suggest that interindividual differences in DNA repair capacity may have an important impact on superficial bladder cancer recurrence. A pathway-based approach is preferred to study the effects of individual polymorphism on clinical outcomes.	Cohort 288 paitnets with superficial bladder cancer 	Bacillus Calmette-Guerin treatment									
138114		cytogenetic studies	OTHER	OTH	DNA Damage|Chromosome Aberrations	3	3p25	XPC	14161648	14195143		Vodicka, P.  et al. 2004	14729591				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDPinfo	7508	Hs.475538			Carcinogenesis. 2004 May;25(5):757-63	Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and singlestrand breaks in DNA		278720	25782	2	2004	Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes coding DNA repair enzymes.	Cohort a central European population 										
138132	Y	non-small cell lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Casse C 2003	12873719				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			KGB	7515	Hs.98493			Mutation research. 2003 Jul;528(2-Jan):19-27	The XRCC1 codon 399 Gln allele is associated with adenine to guanine p53 mutations in non-small cell lung cancer.		194360	6534	1	2003												
138143	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Deligezer, U.  et al. 2004	15665590				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Turkish	Turkey	CDC GDPinfo	7515	Hs.98493			Experimental & molecular medicine. 2004 Dec;36(6):572-5	Association of the XRCC1 gene polymorphisms with cancer risk in Turkish breast cancer patients.		194360	14818	2	2004	Our results do not support evidence for a role of the XRCC1 polymorphism in developing breast cancer.	Case Turkish breast cancer patients:Turkey;Control healthy women										
138234		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Forsti, A.  et al. 2004	15010895				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256		Poland|Finland	CDC GDPinfo	7516	Hs.129727			Oncology reports. 2004 Apr;11(4):917-22	Single nucleotide polymorphisms in breast cancer.		600375	27679	2	2004	We conclude that  within statistical power of the present study, none of the tested polymorphisms associated with BC, with the probable exception of XPD.	Control locally collected controls;Case:222/172 unselected Finnish (n=222) and Polish familial (n=172) breast cancer patients										
138274	Y	radiotherapy response	OTHER	OTH	Breast Neoplasms|Fibrosis	14	14q32.3	XRCC3	103233706	103251549		Andreassen, C. N.  et al. 2003	14643949				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDPinfo	7517	Hs.592325			Radiotherapy and oncology. 2003 Nov;69(2):127-35	Prediction of normal tissue radiosensitivity from polymorphisms in candidate genes.		600675	27363	2	2003	 The present study established significant correlations between five SNPs and risk of radiation-induced normal tissue reactions. These findings support the assumption that clinical normal tissue radiosensitivity should be regarded as a phenomenon dependent on the combined effect of variation in several genes and indicate that models based on multiple genetic markers may have the potential to predict normal tissue responses after radiotherapy.	Cohort 41 patients who received post-mastectomy radiotherapy in 1978-1982 										
120061	N	HIV Infected Long- Term Nonprogressors	INFECTION	INF	HIV Infections	2	2q21	CXCR4	136588388	136592195	n	Cohen OJ 1998	9621092	12 different point mutations were found scattered over the CCR5			Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1			KGB	7852	Hs.421986			Journal of virology. 1998 Jul;72(7):6215-7			162643	6555	1	1998												
117692	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	BAT2	31696575	31713516		Hashimoto M et al. 1999	10987645				HLA-B associated transcript 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080686.1			Y Wang	7916	Hs.436093			Human genetics. 1999 Sep;105(3):197-9	Genetic contribution of the BAT2 gene microsatellite polymorphism to theage-at-onset of insulin-dependent diabetes mellitus		142580	6559	1	1999												
123600		familial exudative vitreoretinopathy	OTHER	OTH	Eye Diseases, Hereditary|Retinal Diseases	11	11q14.2	FZD4	86334368	86344081		Kondo H 2003	14507768				Frizzled homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012193.2			KGB	8322	Hs.591968			The British journal of ophthalmology. 2003 Oct;87(10):1291-5	Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.		604579	6568	1	2003	 FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR. FZD4 mutations were responsible for FEVR with variable clinical manifestations.											
137328	Y	proliferative potential of keratinocytes	OTHER	OTH	Carcinoma, Squamous Cell|Skin Neoplasms	3	3q27-q29	TP73L	190831909	191097758		Parsa R et al. 1999	10594758				Tumor protein p73-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003722.3			KGB	8626	Hs.137569			The Journal of investigative dermatology. 1999 Dec;113(6):1099-105	Association of p63 with proliferative potential in normal and neoplastic human keratinocytes.		603273	6579	1	1999												
137715	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q24-q25	VAMP4	169935920	169977837		Sabra, M. M.  et al. 2005	15896658				Vesicle-associated membrane protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003762.3		Pennsylvania	CDC GDPinfo	8674	Hs.6651			Molecular genetics and metabolism. 2005 Jun;85(2):133-9	Vesicle-associated membrane protein 4, a positional candidate gene on 1q24-q25, is not associated with type 2 diabetes in the Old Order Amish.		606909	20135	2	2005	 Variation in VAMP4 does not significantly influence risk of T2DM or IGH in the Amish.	Control:126 normal glucose tolerant controls;Case:65/64 Amish subjects with type 2 diabetes (n=65) and subjects with impaired glucose homeostasis (n=64):Cohort:749 participants of the Amish Family Diabetes Study f										
129442	N	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	17	17q12-q21	KRT38	36846146	36851122		Buning, C.  et al. 2004	15248378				Keratin, hair, acidic, 8				CDC GDPinfo	8687	Hs.248188			Digestive and liver disease. 2004 Jun;36(6):388-91	Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease.		604542	17971	2	2004	 Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease.	Case:217/131 German patients with Crohn's disease (n=217) and with ulcerative colitis (n=131):Germany;Control:560 German controls										
136931	N	Asthma	IMMUNE	IMM	Asthma	8	8p22-p21	TNFRSF10B	22933592	22982637	n	Unoki M 2000	10830912	C-156T95C2T			Tumor necrosis factor receptor superfamily, member 10b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003842.3	Japanese	Japan	KCB	8795	Hs.521456			Human genetics. 2000 Apr;106(4):440-6			603612	6588	1	2000												
136921	N	Asthma	IMMUNE	IMM	Asthma	8	8p21	TNFRSF10A	23104914	23138584	n	Unoki M 2000	10830912	A1053G			Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese	Japan	KCB	8797	Hs.591834			Human genetics. 2000 Apr;106(4):440-6			603611	6591	1	2000												
131113		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Deafness|Charcot-Marie-Tooth Disease	11	11q22	MTMR2	95205693	95296920		Boerkoel, C. F.  et al. 2002	11835375				Myotubularin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016156.3			CDC GDPinfo	8898	Hs.181326			Annals of neurology. 2002 Feb;51(2):190-201	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.		603557	27564	2	2002	We conclude that  molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.	Case:153 urelated Charcot-Marie-Tooth disease patients										
129380	Y	memory impairment	NEUROLOGICAL	NEUR		13	13q12	KL	32488200	32538279		Deary, I. J.  et al. 2005	15763166				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDPinfo	9365	Hs.524953			Neuroscience letters. 2005 Apr;378(1):22-7	KLOTHO genotype and cognitive ability in childhood and old age in the same individuals.		604824	17945	2	2005	Variation in the KLOTHO gene is a possible contributor to life-long reasoning differences in humans and/or to the ageing of non-verbal reasoning, especially in women.	Cohort 451 people in the Aberdeen Birth Cohort 1936 Cohort 464 people from the Lothian Birth Cohort 1921 										
129376	Y	bone density; spondylosis, lumbar	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Osteophytosis	13	13q12	KL	32488200	32538279		Ogata, N.  et al. 2002	12110410				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDPinfo	9365	Hs.524953			Bone. 2002 Jul;31(1):37-42	Association of klotho gene polymorphism with bone density and spondylosis of the lumbar spine in postmenopausal women.		604824	12090	2	2002	These findings indicate that the klotho gene may be a candidate for the genetic regulation of common age-related diseases like osteoporosis and spondylosis, and we provide the first evidence suggesting that this gene may be involved in the etiology of human diseases.	Cohort 377 Japanese postmenopausal women 										
123489	N	insulin; glucose; polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Haap, M.  et al. 2005	15926113				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDPinfo	9370	Hs.80485			Experimental and clinical endocrinology & diabetes. 2005 May;113(5):275-81	Genetic determinants of insulin action in polycystic ovary syndrome.		605441	16743	2	2005	We found a higher prevalence of the T45 G polymorphism in the adiponectin gene in women with PCOS compared to controls. This was not associated with a more insulin resistant phenotype in PCOS, however. Other frequent polymorphisms in genes related to insulin resistance and type 2 diabetes showed no association with PCOS.	Control:567 healthy nondiabetic women;Case:57 non-diabetic women with polycystic ovary syndrome										
137318	Y	lung cancer; breast cancer	CANCER	CAN	Breast Neoplasms|Lung Neoplasms	2	2p23.3	PIG3	24153808	24160705		Gorgoulis, V. G.  et al. 2004	15491642				tumor protein p53 inducible protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK223382			CDC GDPinfo	9540	Hs.50649			Mutation research. 2004 Nov;556(2-Jan):143-50	Absence of association with cancer risk and low frequency of alterations at a p53 responsive PIG3 gene polymorphism in breast and lung carcinomas.		605171	13118	2	2004	Taken together, these data do not support the notion that this PIG3 polymorphism is associated with an increased risk for cancer susceptibility. Larger studies including other types of cancer should also be performed.	Control:controls;Case lung and breast cancer cases Greece and UK										
141974	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q13	IL18BP	71387605	71392447	n	Nolsoe RL et al. 2003	14679086				Interleukin 18 binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173042.2			Y Wang	10068	Hs.591967			Annals of the New York Academy of Sciences. 2003 Nov;1005:332-9	Mutation scan of a type 1 diabetes candidate gene: the human interleukin-18 binding protein gene.		604113	6906	1	2003	We conclude that  IL18BP does not contribute to the overall genetic susceptibility to type 1 diabetes.											
132214		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Mukhopadhyay, A.  et al. 2005	16205626				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Indian		CDC GDPinfo	10133	Hs.332706			Molecular vision [electronic resource]. 2005 Sep;11:792-7	Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.		602432	18786	2	2005	 Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin.											
131525	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	10	10p15	NET1	5444517	5490426		Bobb, A. J.  et al. 2005	15717291				Neuroepithelial cell transforming gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005863.2			CDC GDPinfo	10276	Hs.25155			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):67-72	Support for association between ADHD and two candidate genes: NET1 and DRD1.		606450	28178	2	2005	This study provides support for an association between ADHD and polymorphisms in both NET1 and DRD1; polymorphisms in ten other candidate genes were not associated with ADHD. Because family-based and case-control methods gave divergent results, both should be used in genetic studies of ADHD.	Control:129 healthy controls;Case:163 attention deficit hyperactivity disorder patients										
119675	N	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplastic Syndromes, Hereditary	16	16q21-q22.3	CTCF	66153964	66230589		Zhou, X. L.  et al. 2004	15084242				CCCTC-binding factor (zinc finger protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006565.2		Sweden	CDC GDPinfo	10664	Hs.368367			Breast cancer research. 2004 ;6(3):R187-90	A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer		604167	15910	2	2004	 The present study suggests that germline mutations in CTCF are not important as a risk factor for breast cancer.	Control:controls;Case:153 patients with familal non-BRCA1/BRCA2 breast cancer										
130209		dementia	PSYCH	PSY		1	1p36.3-p36.2	MASP2	11009166	11029872		Lozano, F.  et al. 2005	16029433				Mannan-binding lectin serine peptidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006610.2	North African and Sub-Saharan individuals		CDC GDPinfo	10747	Hs.632369			Tissue antigens. 2005 Aug;66(2):131-5	Novel MASP2 variants detected among North African and Sub-Saharan individuals.		605102	18163	2	2005												
141985		lung cancer; breast cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Breast Neoplasms	19	19p13.1	GIPC1	14449570	14467944			16240642				GIPC PDZ domain containing family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005716.2			CDC GDPinfo	10755	Hs.631639			Genetika. 2005 Sep;41(9):1289-93	[Analysis of polymorphic variants of gene GIPC1 CGG repeats in healthy individuals and in patients with breast cancer and non-small cell lung cancer]		605072	16914	2	2005												
121190		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Tedde, A.  et al. 2005	16055229				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1	Italian		CDC GDPinfo	10858	Hs.25121			Neurobiology of aging. 2005	Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.		604087	21128	2	2005												
132336		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36.33-p36.12	PARK7	7944320	7967928		Djarmati, A.  et al. 2004	15108293				Parkinson disease (autosomal recessive, early onset) 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007262.3		Yugoslavia	CDC GDPinfo	11315	Hs.419640			Human mutation. 2004 May;23(5):525	Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkinmutation frequency depends on ethnic origin of patients.		602533	23204	2	2004	Although DJ1 mutations appear to be rare, we confirm their role in EOPD and demonstrate the importance of gene dosage studies.	Cohort 75 Servian early-onset Parkinson's disease patients 										
130541	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.33	MLC1	48839946	48866485	n	McQuillin A et al. 2002	12111645				megalencephalic leukoencephalopathy with subcortical cysts 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015166			KGB	23209	Hs.517729			European journal of human genetics. 2002 Aug;10(8):491-4	A novel polymorphism in exon 11 of the WKL1 gene shows no association with schizophrenia.		605908	6719	1	2002												
132615	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1p36.12	PLA2G2D	20311020	20318595		Meira-Lima, I.  et al. 2003	12895207				Phospholipase A2, group IID	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012400.2			CDC GDPinfo	26279	Hs.189507			Bipolar disorders. 2003 Aug;5(4):295-9	Allelic association study between phospholipase A2 genes and bipolar affective disorder.		605630	18925	2	2003	 Our results failed to demonstrate that the studied PLA2 polymorphisms were associated with an increased risk for BPAD in our sample.	Case:181 unrelated DSM-IIIR BPAD subjects;Control:312:controls										
127766		celiac disease	IMMUNE	IMM	Celiac Disease	5	5q32-34	IL17B	148734022	148739031		Ryan, A. W.  et al. 2005	15713213				Interleukin 17B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014443.2		Ireland	CDC GDPinfo	27190	Hs.156979			Tissue antigens. 2005 Feb;65(2):150-5	Chromosome 5q candidate genes in coeliac disease:genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.		604627	22472	2	2005	There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.	Control:355:controls;Case:409 celiac disease cases										
126989	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	2	2q33	ICOS	204509747	204534543		Hunt, K. A.  et al. 2005	15657618				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2		Great Britain	CDC GDPinfo	29851	Hs.56247			European journal of human genetics. 2005 Apr;13(4):440-4	A common CTLA4 haplotype associated with coeliac disease		604558	22309	2	2005	A common CTLA4 haplotype shows strong association with coeliac disease, and contains multiple alleles reported to affect immunological function. Loss of tolerance to dietary antigens in coeliac disease may be mediated in part by heritable variants in co-signalling genes regulating T-cell responses.	Case:340 Caucasian celiac disease cases:UK;Control:973/705 healthy controls tested for ICOS (n=973) and for CTLA4 haplotype (n=705)										
135797	Y	asthma	IMMUNE	IMM	Asthma|Drug Hypersensitivity|Genetic Predisposition to Disease	17	17q21.32	TBX21	43165608	43178484		Akahoshi, M.  et al. 2005	15806396			promoter	T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1		Japan	CDC GDPinfo	30009	Hs.272409			Human genetics. 2005 Jun;117(1):16-26	Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma.		604895	14176	2	2005	Thus, in addition to the antigen-driven excess Th2 response, increased T-bet (and subsequent IFN-gamma) production in human airways of individuals with the -1993T-->C polymorphism could contribute to the development of certain asthma-related phenotypes, such as AIA.											
142014	Y	cystinuria	METABOLIC	MET	Hemochromatosis|Iron Overload	2	2q32	SLC40A1	190133560	190156729		Montosi, G.  et al. 2001	11518736				Solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3		Italy	CDC GDPinfo	30061	Hs.529285			The Journal of clinical investigation. 2001 Aug;108(4):619-23	Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.		604653	19506	2	2001	We propose that partial loss of ferroportin function leads to an imbalance in iron distribution and a consequent increase in tissue iron accumulation.	Cohort 100 control individuals 										
135371	N	bone density	METABOLIC	MET		17	17q12-q21	SOST	39186624	39191682		Balemans, W.  et al. 2002	12398949				Sclerosteosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025237.2			CDC GDPinfo	50964	Hs.349204			Bone. 2002 Oct;31(4):515-9	Lack of association between the SOST gene and bone mineral density in perimenopausal women: analysisof five polymorphisms.		605740	19677	2	2002	We conclude that , in this population, common allelic variations in the SOST gene do not contribute significantly to the regulation of high or low BMD.	Case:293 women with low bone mineral density;Control:326 women with high mone mineral density										
123758	N	obesity	METABOLIC	MET	Obesity	11	11q13.2	GAL	68208558	68215219		Schauble, N.  et al. 2005	15930442				Galanin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015973.3			CDC GDPinfo	51083	Hs.278959			The Journal of nutrition. 2005 Jun;135(6):1387-92	Human galanin (GAL) and galanin 1 receptor (GALR1) variations are not involved in fat intake and early onset obesity.		137035	16852	2	2005	We conclude that  the analyzed SNPs in GAL and GALR1 do not play a major role in early onset obesity or dietary fat intake in the obese children and adolescents of our study groups.	Control:106 healthy underweight young adults;Case:191 obese children and adolescents										
142020		diabetes, type 2	METABOLIC	MET	Coronary Disease|Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Ukkola O 2003	12974878	Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			KGB	51738	Hs.590080			Journal of internal medicine. 2003 Oct;254(4):391-4	Preproghrelin Leu72Met polymorphism in patients with type 2 diabetes mellitus.		605353	7516	1	2003	 The Leu72Met polymorphism of the preproghrelin gene was not related to cardiovascular disease in type 2 diabetes mellitus patients. Leu72Met polymorphism was, however, associated with serum creatinine and Lp(a) levels in diabetic patients. The mechanism might be associated with a possible change in ghrelin product and its somatotropic effect.	Case:258 patients with type 2 diabetes;Control:522:controls										
131610	N	autism	PSYCH	PSY	Autistic Disorder	X	Xq13.1	NLGN3	70281435	70307776		Gauthier, J.  et al. 2004	15389766				Neuroligin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018977.2			CDC GDPinfo	54413	Hs.438877			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jan;132(1):74-5	NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population.		300336	18566	2	2004	These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.	Cohort 96 individuals affected with autism 										
132288		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.32	PANK4	2429834	2447895		Li, Y.  et al. 2005	16038259				Pantothenate kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018216.1	Chinese		CDC GDPinfo	55229	Hs.26156			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2005 Jun;27(3):274-9	[Screening susceptibility genes of type 2 diabetes in Chinese population by single nucleotide polymorphism analysis]		606162	23200	2	2005	 sAC, PANK4, and CA SP9 may be associated with type 2 diabetes in Han population in north China, and it seems that the synergetic effect of these genes is responsible for the development of type 2 diabetes.											
142159		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	5	5q35.3	NOLA2	177509071	177513567		Yamaguchi, H.  et al. 2005	15814878				Nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017838.3			CDC GDPinfo	55651	Hs.27222			The New England journal of medicine. 2005 Apr;352(14):1413-24	Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.		606470	23107	2	2005	 Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure.	Case:124/81 patients with apparent acquired aplastic anemia with an additional number examined for genetic variations in TERT (n=81);Control:282/246 control subjects and an additional number examined for genetic variations in TERT (n=246)										
121226		asthma	IMMUNE	IMM	Asthma	13	13q14.12-q21.1	CYSLTR2	48178951	48181499		Park, J. S.  et al. 2005	15970796				Cysteinyl leukotriene receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020377.2		Korea	CDC GDPinfo	57105	Hs.253706			Pharmacogenetics and genomics. 2005 Jul;15(7):483-92	Association analysis of cysteinyl-leukotriene receptor 2 (CYSLTR2) polymorphisms with aspirin intolerance in asthmatics.		605666	10069	2	2005	 CYSLTR2 polymorphisms are associated with aspirin intolerance in asthmatics.		aspirin									
118144		Crohn's disease	IMMUNE	IMM	Crohn Disease|Multiple Sclerosis|Genetic Predisposition to Disease|	16	16p12-q21	CARD15	49288551	49324488		Sawcer S 2003	12876263				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1			KGB	64127	Hs.592072			Journal of neurology, neurosurgery, and psychiatry. 2003 Aug;74(8):1157	Crohn's associated NOD2 gene variants are not involved in determining susceptibility to multiple sclerosis.		605956	6822	1	2003												
118135		Crohn's disease	IMMUNE	IMM	Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Vavassori P et al. 2002	11926563				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Italian	Italy	KGB	64127	Hs.592072			Digestive and liver disease. 2002 Feb;34(2):153	3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population.		605956	6813	1	2002												
132589		Parkinsons disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591			16354302				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDPinfo	65018	Hs.389171			Journal of negative results in biomedicine [electronic resource]. 2005 ;4:10	Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in 2 European populations		608309	18913	2	2005	 Sequence variation in the PINK1 gene appears to play a marginal quantitative role in the pathogenesis of the late-onset form of PD, in German and Norwegian cohorts, if at all.											
132582		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Clarimon, J.  et al. 2005	16046032				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1	Finnish		CDC GDPinfo	65018	Hs.389171			Neurobiology of aging. 2005	Assessment of PINK1 (PARK6) polymorphisms in Finnish PD.		608309	13128	2	2005												
138051	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q21-q22	WNK4	38186221	38202610		Sun, Z. J.  et al. 2003	12905707				WNK lysine deficient protein kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032387.3			CDC GDPinfo	65266	Hs.105448			Zhongguo yi xue ke xue yuan xue bao Acta Academiae Medicinae Sinicae. 2003 Apr;25(2):145-8	[Correlation analysis between WNK4 gene and essential hypertension]		601844	20183	2	2003	 WNK4 gene is well correlated with essential hypertension.	Control:95 control subjects;Case:98 patients with essential hypertension										
115463		brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Schwartzbaum, J.  et al. 2005	16024651				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDPinfo	80332	Hs.173716			Cancer research. 2005 Jul;65(14):6459-65	Polymorphisms associated with asthma are inversely related to glioblastoma multiforme.		607114	8393	2	2005												
142184	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	21	21q22.3	COL18A1	45649524	45758062		Li, H. C.  et al. 2005	15735323				Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2	Caucasian		CDC GDPinfo	80781	Hs.517356			Disease markers. 2005 ;21(1):37-41	Endostatin polymorphism 4349G/A(D104N) is not associated with aggressiveness of disease in prostate [corrected] cancer.		120328	9439	2	2005	We concluded that endostatin polymorphism was not associated with the aggressiveness of prostate cancer in Caucasian patients.	Cohort 98 Caucasian prostate cancer patients 										
116883		hypercholesterolemia	METABOLIC	MET	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Bertolini, S.  et al. 2004	15135251				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2004 May;174(1):57-65	Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.		606368	20451	2	2004	These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes.	Cohort 221/349 unrelated familial hypercholesterolemia index cases (n=221) and familial hypercholesterolemia relatives (n=349) 										
116864		triglycerides	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Nabika, T.  et al. 2002	12417270				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Japanese	Japan	CDC GDPinfo	116519	Hs.283923			Atherosclerosis. 2002 Dec;165(2):201-4	The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese.		606368	15221	2	2002	This result indicates that polymorphism in the apoAV gene influence serum TG in populations of different ethnicities.	Cohort 481/412 male (n=481) and female (n=412) Japanese individuals recruited at a health examination 										
142193		autism	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Autistic Disorder	2	2p24.3-p24.1	CENTG2	236067474	236698859		Wassink, T. H.  et al. 2005	15892143				Centaurin, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001037131.1			CDC GDPinfo	116987	Hs.435039			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Jul;136(1):36-44	Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.		608651	15739	2	2005	We conclude, therefore, that 2q37.3 continues to be a region of interest for autism susceptibility, and that CENTG2 is an intriguing candidate gene that merits further scrutiny for its role in autism.	Control:160 non-autistic individuals;Case:199 autistic individuals										
130712	N	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	10	10q26.2	MMP21	127445015	127454380		Shagisultanova EI 2004	15015597				Matrix metallopeptidase 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147191.1	Russian		KGB	118856	Hs.314141			Anticancer research. 2004 Jan-Feb;24(1):199-201	The matrix metalloproteinase-21 gene 572C/T polymorphism and the risk of breast cancer.		608416	6858	1	2004	 The MMP-21 gene 572C/T polymorphism has no significant effect on the development and progression of breast cancer.	Control:320 disease-free blood donors;Case:76 Russian breast cancer patients										
129915		Parkinson's disease	NEUROLOGICAL	NEUR	Muscle Rigidity|Parkinson Disease|Tremor	12	12q12	LRRK2	38905080	39049353		Aasly, J. O.  et al. 2005	15852371				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Norway	CDC GDPinfo	120892	Hs.187636			Annals of neurology. 2005 May;57(5):762-5	Clinical features of LRRK2-associated Parkinson's disease in central Norway.		609007	18840	2	2005												
137412	Y	autism	PSYCH	PSY	Autistic Disorder	12	12q21.1	TPH2	70618892	70712488		Coon, H.  et al. 2005	15768392				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDPinfo	121278	Hs.376337			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 May;135(1):42-6	Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2).		607478	19988	2	2005	We conclude that  TPH2 may play a modest role in autism susceptibility, perhaps relating specifically to repetitive behaviors, pending replication of this result.	Case:88 subjects with autism;Control:95 unrelated control subjects										
142198	Y	leprosy	INFECTION	INF	Leprosy|Genetic Predisposition to Disease	6	6q26	PACRG	163068153	163656514		Mira, M. T.  et al. 2004	14737177				PARK2 co-regulated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152410.1		Brazil|Vietnam	CDC GDPinfo	135138	Hs.25791			Nature. 2004 Feb;427(6975):636-40	Susceptibility to leprosy is associated with PARK2 and PACRG		608427	18794	2	2004	Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.	Control:controls;Case Leprosy cases:Brazil										
121231	Y	schizophrenia	PSYCH	PSY	Postmortem Changes|Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Korostishevsky, M.  et al. 2004	15271585				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDPinfo	267012	Hs.381382			Biological psychiatry. 2004 Aug;56(3):169-76	Is the G72/G30 locus associated with schizophrenia? single nucleotide polymorphisms, haplotypes, and gene expression analysis.		607408	10071	2	2004	 It is likely that the G72/G30 region is involved in susceptibility to schizophrenia in the Ashkenazi population. The elevation in expression of the G72 gene coincides with the glutamatergic theory of schizophrenia.	Control:130 matched control subjects of Ashkenazi ethnic origin;Case:60 schizophrenic patients of Ashkenazi ethnic origin										
130168		depressive disorder, major	PSYCH	PSY	Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Peters, E. J.  et al. 2004	15052272				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2004 Sep;9(9):879-89	Investigation of serotonin-related genes in antidepressant response		309850	26395	2	2004	Although these data should be interpreted cautiously due to the small sample size, these results implicate TPH1 and SLC6A4 in general response, and HTR2A, TPH2, and MAOA in the specificity of response to fluoxetine. Intriguingly, we observe that a number of the less frequent alleles of many of the SNP markers were associated with the nonresponse and nonspecific phenotypes.	Cohort 96 subjects with unipolar major depression 	fluoxetine									
130160		depressive disorder, major; nausea	PSYCH	PSY	Nausea	X	Xp11.4-p11.3	MAOA	43400352	43491012		Yoshida, K.  et al. 2003	12886034				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuropsychobiology. 2003 ;48(1):3-Oct	Monoamine oxidase A gene polymorphism, 5-HT 2A receptor gene polymorphism and incidence of nausea induced by fluvoxamine.		309850	22810	2	2003	This study showed that the genetic polymorphism of MAOA-VNTR might affect the incidence of nausea induced by SSRIs. If this finding is replicated in other studies with more subjects, MAOA-VNTR polymorphism would be of great clinical use to predict the incidence of nausea induced by SSRIs.	Cohort 66 Japanese major depressive patients 	fluvoxamine									
130156		personality traits	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012			16360899				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			Neuroscience research. 2005	Combined analysis of association between personality traits and three functional polymorphisms in the tyrosine hydroxylase, monoamine oxidase A, and catechol-O-methyltransferase genes		309850	22806	2	2005												
130147		narcolepsy-cataplexy symptoms	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy	X	Xp11.4-p11.3	MAOA	43400352	43491012		Dauvilliers, Y.  et al. 2001	11443519				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		France	CDC GDPinfo	4128	Hs.183109			Molecular psychiatry. 2001 Jul;6(4):367-72	MAO-A and COMT polymorphisms and gene effects in narcolepsy.		309850	22797	2	2001	In agreement with well-documented pharmacological results in canine narcolepsy, this study reports the first genetic evidence for the critical involvement of the dopaminergic and/or noradrenergic systems in human narcolepsy.	Cohort 97 Caucasians with well-defined narcolepsy-cataplexy 										
130143	Y	depression; thrombocyte MAO activity	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Jansson, M.  et al. 2005	16174289				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			BMC genetics [electronic resource]. 2005 Sep;6:46	MAOA haplotypes associated with thrombocyte-MAO activity.		309850	18135	2	2005	 The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males.											
130093	Y	depression	PSYCH	PSY	Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Schulze, T. G.  et al. 2000	11121185			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDPinfo	4128	Hs.183109			American journal of medical genetics. 2000 Dec;96(6):801-3	Association between a functional polymorphism in the monoamine oxidase A gene promoter and major depressive disorder.		309850	12258	2	2000	Thus, our data suggest that an excess of high-activity MAO-A gene promoter alleles resulting in an elevated MAO-A activity is a risk factor for major depressive disorder in females.	Control:101 individuals with a negative life history for affective disorder;Case:146 unrelated patients of German descent										
130091	N	Deliberate self-harm	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Pooley EC 2003	12877392	G941T			Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			Psychological medicine. 2003 Jul;33(5):775-83	Deliberate self-harm is associated with allelic variation in the tryptophan hydroxylase gene (TPH A779C), but not with polymorphisms in five other serotonergic genes.		309850	4440	1	2003	 Our data extend the evidence that allelic variation in the TPH gene is a risk factor for deliberate self-harm. No evidence was found to implicate the other polymorphisms.	Case:129 deliberate self-harm subjects;Control:329 comparison subjects										
130084	N	schizophrenia	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		Norton N et al. 2002	12116182				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 2002 Jul;114(5):491-6	Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis.		309850	4433	1	2002	Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia.	Control:173 controls (COMT genotyping only);Case:177 schizphrenics (COMT genotyping only);Control:334:controls;Case:346:schizophrenics										
130072	N	suicide	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012	n	Ono H et al. 2002	11920860				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			KGB	4128	Hs.183109			American journal of medical genetics. 2002 Apr;114(3):340-2	No evidence of an association between a functional monoamine oxidase a gene polymorphism and completed suicides.		309850	4421	1	2002	These results show no evidence of an association between the MAOA-uVNTR polymorphism and completed suicides and suggest that MAOA is not involved in the susceptibility to suicide.	Case completed suicide cases;Control not specified in abstract										
115619		cirrhosis; pancreatitis; esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Chao YC  et al. 2000	11051375				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Chinese	China	CDC GDPinfo	126	Hs.4			The American journal of gastroenterology. 2000 Oct;95(10):2958-64	Chinese alcoholic patients with esophageal cancer are genetically different from alcoholics with acute pancreatitis and liver cirrhosis.		103730	20287	2	2000	 The allele frequency of ADH2*1 and ALDH2*1 are different among subpopulations of alcoholics, suggesting that alcoholic patients with different specific types of organ damage are genetically different. The Chinese alcoholic patients with the ADH2*1 and ALDH2*2 allele are more susceptible to esophageal Ca.	Control:241 nonalcoholic patients;Case:281 alcoholics (59 with esophageal CA, 87 with acute pancreatitis, 116 with liver cirrhosis, 19 with cirrhosis and pancreatitis										
117015		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Thrombosis|Hypertension|Insulin Resistance|Inflammation	19	19q13.2	APOC4	50137334	50140591		Navarro-Lopez, F.   2002	11975906				Apolipoprotein C-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG545333			CDC GDPinfo	346	Hs.491896			Rev Esp Cardiol. 2002 Apr;55(4):413-31	[Genes and coronary heart disease]		600745	27893	2	2002	Individual coronary risk might be related to the presence of a critical accumulation detrimental polymorphisms											
138635		systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	C4A	32057812	32078435		Huang DF1995	7706484				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2		Canada|United States	Y Wang	720	Hs.534847			The Journal of clinical investigation. 1995 Apr;95(4):1766-72	Population and family studies of three disease-related polymorphic genes in systemic lupus erythematosus.		120810	7558	1	1995												
139073	Y	tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Nikoloff, D.  et al. 2002	12629505				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Korean	Korea	CDC GDPinfo	1565	Hs.333497			The pharmacogenomics journal. 2002 ;2(6):400-7	Association between CYP2D6 genotype and tardive dyskinesia in Korean schizophrenics.		124030	16195	2	2002	Our results demonstrate the utility of CYP2D6 microarrays to assess genotype status in this Korean cohort.	Cohort Korean schizophrenics 										
139084		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Mental Disorders|Psychotic Disorders	22	22q13.1	CYP2D6	40852444	40856827		de Leon, J.  et al. 2005	16160620				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of clinical psychopharmacology. 2005 Oct;25(5):448-56	Polymorphic variations in GSTM1, GSTT1, PgP, CYP2D6, CYP3A5, and dopamine D2 and D3 receptors and their association with tardive dyskinesia in severe mental illness.		124030	16216	2	2005												
139112		drug hypersensitivity	METABOLIC	MET		22	22q13.1	CYP2D6	40852444	40856827		Koski, A.  et al. 2005	16024198				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Forensic science international. 2005	CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies.		124030	21044	2	2005												
139138		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Mochizuki, J.  et al. 2005	16048566				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			Journal of gastroenterology and hepatology. 2005 Aug;20(8):1191-7	Genetic polymorphisms of cytochrome P450 in patients with hepatitis C virus-associated hepatocellular carcinoma.		124030	25930	2	2005	 There is no statistically significant difference in genetic mutant alleles between the two groups, except for the genotype of CYP2A6*4A homozygous. The frequency of this genotype in the HCC patients (0.144) is significantly higher than that in healthy Japanese (0.034; P < 0.05; odds ratio 3.36). The clinical significance related to HCC is unknown. Further evaluation of CYP2A6*4A (deletion type) in HCV-related HCC patients is required.											
139143		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	22	22q13.1	CYP2D6	40852444	40856827		Humma, L. M.  et al. 2002	12116890				Cytochrome P450, family 2, subfamily D, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDPinfo	1565	Hs.333497			American journal of health-system pharmacy. 2002 Jul;59(13):1241-52	Pharmacogenetics and cardiovascular disease: impacton drug response and applications to disease management.		124030	27697	2	2002	Review article		ACE inhibitor antiarythmias anticoagulation antiplatelet aspirin digoxin heparin statin thiazide diuretic									
139158		liver transplant	OTHER	OTH		7	7q21.3-q22.1	CYP3A	98890599	99022355		Goto, M.  et al. 2004	15226679				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDPinfo	1574				Pharmacogenetics. 2004 Jul;14(7):471-8	CYP3A5*1-carrying graft liver reduces the concentration/oral dose ratio of tacrolimus in recipients of living-donor liver transplantation.		124010	21082	2	2004	 These results indicate that in recipients of LDLT, the pharmacokinetics of tacrolimus is influenced by flux via P-glycoprotein in the intestine during the first week; after that, it is mostly the hepatic metabolism that contributes to the excretion of tacrolimus, and carriers of the CYP3A5*1/*1 genotype require a high dose of tacrolimus to achieve the target concentration.	Cohort liver donor and recipient pairs 	tacrolimus									
139533		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR3B	159859676	159867525		Tsuchiya, N.  et al. 2005	16227149				Fc fragment of IgG, low affinity IIIb, receptor for (CD16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569		Thailand|China|Japan	CDC GDPinfo	2215	HS.372679			Autoimmunity. 2005 Aug;38(5):347-52	Role of Fc gamma receptor IIb polymorphism in the genetic background of systemic lupus erythematosus:insights from Asia.		610665	26006	2	2005												
139556	Y	premature ovarian failure	REPRODUCTION	REP	Fragile X Syndrome|Ovarian Failure, Premature	X	Xq27.3	FRAXA	146699079	146737702		Gersak, K.  et al. 2003	12871874				fragile site, folic acid type, rare, fra(X)(q27.3), (macroorchidism, mental retardation)			Slovenia	CDC GDPinfo	2477				Human reproduction (Oxford, England). 2003 Aug;18(8):1637-40	Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.		309550	16754	2	2003	 In this study we have confirmed an important association between FRAXA premutation and the pathogenesis of POF. This result has practical implications for genetic counselling and fertility treatment.	Cohort 83 women with sporadic premature ovarian failure 										
131990	Y	leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Fleury, I.  et al. 2004	15462611				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			American journal of pharmacogenomics. 2004 ;4(5):331-41	Polymorphisms in genes involved in the corticosteroid response and the outcome of childhood acute lymphoblastic leukemia.		138040	23176	2	2004	 A reduction in survival probability in children with ALL was associated with homozygosity for G allele of the NR3C1BclI RFLP polymorphism, particularly in certain patient subgroups. Further analysis is required to replicate this finding and to understand the mechanism underlying the observed association.	Cohort 222 children with acute lymphoblastic leukemia 	corticosteroids									
131987		glucocorticoid sensitivity	METABOLIC	MET	Psoriasis|Chronic Disease	5	5q31	NR3C1	142637688	142795270		Stevens, A.  et al. 2004	14764810				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDPinfo	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):892-7	Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype.		138040	18713	2	2004	This haplotype may help predetermine variation in clinical response to GC therapy and also assist the understanding of diseases related to GC production.	Cohort 216 Caucasians 	dexamethasone									
131966		Glucocorticoid sensitivity	METABOLIC	MET	Psoriasis|Chronic Disease	5	5q31	NR3C1	142637688	142795270		Stevens A 2004	14764810			haplotype	Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	caucasian		KGB	2908	Hs.122926			The Journal of clinical endocrinology and metabolism. 2004 Feb;89(2):892-7	Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype.		138040	2953	1	2004	This haplotype may help predetermine variation in clinical response to GC therapy and also assist the understanding of diseases related to GC production.	Cohort 216 Caucasians	dexamethasone									
131963		body mass index, blood pressure and cholesterol	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270		Di Blasio AM 2003	12807506				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Clinical endocrinology. 2003 Jul;59(1):68-74	The relation between two polymorphisms in the glucocorticoid receptor gene and body mass index, blood pressure and cholesterol in obese patients.		138040	2950	1	2003												
131960	N	adrenal androgen excess	METABOLIC	MET	Polycystic Ovary Syndrome	5	5q31	NR3C1	142637688	142795270	n	Kahsar-Miller M et al. 2000	11119758				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			KGB	2908	Hs.122926			Fertility and sterility. 2000 Dec;74(6):1237-40	A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome.		138040	2947	1	2000	The N363S variant of GRL was an uncommon occurrence in our population of healthy women and PCOS patients and did not appear to play a major role in the genetic predisposition to PCOS or to AA excess in PCOS.	Case:114 consecutive patients of non-Hispanic white race diagnosed with polycystic ovarian syndrome;Control:92 healthy controls										
125156		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	6	6p21.3	HLA-A	29963507	30085130		Liu, H. Y.  et al. 2005	15975271				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Chinese		CDC GDPinfo	3105	Hs.181244			Zhonghua gan zang bing za zhi. 2005 Jun;13(6):410-3	[Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis]		142800	11066	2	2005	 Susceptibility to primary biliary cirrhosis in Chinese is associated with DRB1*0701 allele and differs from people in North America, South America, North Europe and even in Japan, but the association is not restricted to any particular subgroup of patients. Valine at position 78 of HLA DRbeta1 may play an important role in the pathogenesis of primary biliary cirrhosis.											
125147	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	6	6p21.3	HLA-A	29963507	30085130		McKiernan, S. M.  et al. 2004	15239092				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Hepatology (Baltimore, Md). 2004 Jul;40(1):108-14	Distinct MHC class I and II alleles are associated with hepatitis C viral clearance, originating from a single source.		142800	11055	2	2004	In conclusion, certain class I alleles are associated with outcome in this homogeneous cohort. More significantly, either HLA-A*03, -DRB1*0101, or -*0401 are carried by an overwhelming majority of those subjects who successfully clear HCV.	Cohort 227 										
125182		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Flores-Villanueva, P. O.  et al. 2003	12574360				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Journal of immunology (Baltimore, Md :  1950). 2003 Feb;170(4):1925-9	Associations of MHC ancestral haplotypes with resistance/susceptibility to AIDS disease development.		142800	17176	2	2003	In conclusion, our study confirms that the molecular mechanisms underlying the associations between HLA genes and AIDS disease progression are not always direct effects of HLA restriction but can also be indirect effects due to LD, or both.	Control:198 slow progressors to AIDS;Case:74 rapid progressors to AIDS:France										
125181		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6p21.3	HLA-A	29963507	30085130		Carrington, M.  et al. 2003	12525683				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDPinfo	3105	Hs.181244			Annual review of medicine. 2003 ;54:535-51	The influence of HLA genotype on AIDS		142800	17174	2	2003	Review article											
125370	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Morel, J.  et al. 2004	15547082				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186			CDC GDPinfo	3108	Hs.351279			Annals of the rheumatic diseases. 2004 Dec;63(12):1581-6	HLA-DMA*0103 and HLA-DMB*0104 alleles as novel prognostic factors in rheumatoid arthritis.		142855	11078	2	2004	 This is the first study evaluating the role of HLA-DM genes in the severity of RA. Our results suggest that HLA-DMA*0103 and HLA-DMB*0104 alleles may represent new genetic markers of RA severity. The HLA-DMA*0103 allele tends to be associated with patients with RA negative for DRB1*04 and could predict a more severe form of disease especially in HLA-DRB1*01 positive patients. The HLA-DMB*0104 allele could have an additive effect in HLA-DRB1*04 patients. Combined determination of HLA-DM and HLA-DRB1 alleles could facilitate identification of patients likely to have a poor disease course.	Cohort 199 unselected patients with RA (mean (SD) age 45.5 (13.5) years; disease duration 11.9(8.8) years) Cohort 95/70 patients with severe RA (n=95) and patients with benign RA (n=70) 										
126202	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	6	6p21.3	HLA-DRA	32515624	32520802		Gelbmann, C. M.  et al. 2001	11742191				Major histocompatibility complex, class II, DR alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019111.3			CDC GDPinfo	3122	Hs.520048			European journal of gastroenterology & hepatology. 2001 Dec;13(12):1431-7	Association of HLA-DR genotypes and IL-1ra gene polymorphism with treatment failure of budesonide and disease patterns in Crohn's disease		142860	11786	2	2001	 This is the first description of an association of a certain HLA-DR genotype (HLA-DR 8) with treatment failure in inflammatory bowel disease (IBD).	Cohort 318 patients with Crohn's disease treated with daily doses of 6, 9 or 18 mg budesonide 	budesonide									
126235		allergy, latex; latex allergy	IMMUNE	IMM	Spinal Dysraphism|Latex Hypersensitivity|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613		Rihs, H. P.  et al. 2002	12209103				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDPinfo	3125	Hs.554754			The Journal of allergy and clinical immunology. 2002 Sep;110(3):507-14	HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy			24863	2	2002	 The DQB1*0302 (DQ8) alone, the DQB1*0302 (DQ8)-DRB1*04 (DR4) haplotype, or both are significantly involved in the hevein-specific IgE immune response in HCWs with latex allergy.	Case:269/56 healthy care workers (n=269) and spina bifida patietns (n=56) with latex allergies;Control:90 nonatopic control subjects										
140226		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-DRB5	32593131	32665559		Baldassarre, L. A.  et al. 2003	12694574				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	African American		CDC GDPinfo	3127	Hs.534322			Tissue antigens. 2003 Mar;61(3):249-52	Limited diversity of HLA-DRB1*02 alleles and DRB1-DRB5 haplotype associations in four United States population groups.		604776	22231	2	2003	A total of five of 23 known DRB1*02 alleles were detected. DRB1*15011 was the predominant DRB1*02 allele in Caucasoids and Hispanics. The most common DRB1*02 allele observed in African Americans was DRB1*1503, and DRB1*15021 in Asians/Pacific Islanders. Caucasoids were found to be the least diversified; only DRB1*15011 and DRB1*16011 were observed. A subset of individuals was also typed for DRB5 alleles by DNA sequencing. DRB5*01011, DRB5*0102, DRB5*0103, DRB5*0108N and DRB5*0202 were detected and nine DRB1-DRB5 haplotypes defined.	Cohort Caucasoids, African Americans, Asians/Pacific Islanders, and Hispanics randomly selected from a database of 82,979 individuals 										
130489	N	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	6	6p21.3	MICA	31475539	31491069		Ban G 2002	12170466				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		China	Y Wang	4276	Hs.549053			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):298-301	A study of the relationship between MICA gene and systemic lupus erythematosus		600169	4521	1	2002	 Exons 4 and 5 of MICA were not related to SLE in Yunnan Hans.	Control:152 controls of Yunnan Hans;Case:70 cases of systemic lupus erythematosus										
131095		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	16	16q13	MT3	55180767	55182501		Morahan, J. M.  et al. 2005	16036436				Metallothionein 3 (growth inhibitory factor (neurotrophic))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005954.2			CDC GDPinfo	4504	Hs.73133			Amyotrophic lateral sclerosis and other motor neuron disorders. 2005 Jun;6(2):115-7	Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis.		139255	18375	2	2005	We conclude that  changes in the MT3 gene are unlikely to be responsible for susceptibility to SALS.											
131532	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Mochizuki M et al. 2002	11755474				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Japanese	Japan	Y Wang	4760	Hs.72981			Diabetes research and clinical practice. 2002 Jan;55(1):7-Nov	The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese.		601724	4668	1	2002	In conclusion, the Ala45Thr polymorphism contributes to the risk of development of, and to the early deterioration of beta-cell function, in Type 1a diabetes among the Japanese population.	Control:121 non-diabetic subjects;Case:80 patients with child-onset Type 1 diabetes										
131530	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Malecki MT et al. 1999	10545951				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			KGB	4760	Hs.72981			Nature genetics. 1999 Nov;23(3):323-8	Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.		601724	4666	1	1999												
141757	Y	ovarian carcinoma	CANCER	CAN	Carcinoma|Adenocarcinoma, Mucinous|Carcinoma, Endometrioid|Cystadenocarcinoma, Papillary|Ovarian Neoplasms	1	1pter-p22.1	SAI1				Milde-Langosch K et al. 1998	9495360				suppression of anchorage independence 1				KGB	6298				International journal of cancer. Journal international du cancer. 1998 Feb;79(1):61-5	p16/MTS1 inactivation in ovarian carcinomas: high frequency of reduced protein expression associated with hyper-methylation or mutation in endometrioid and mucinous tumors.		154280	5315	1	1998	Our data suggest that p16 inactivation is a typical feature of certain subtypes of ovarian carcinoma.											
135419	Y	pancreatitis	OTHER	OTH	Cystic Fibrosis|Pancreatitis|Pancreatitis, Alcoholic|Chronic Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Bernardino, A. L.  et al. 2003	14526128				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2		Brazil	CDC GDPinfo	6690	Hs.407856			JOP [electronic resource] :  Journal of the pancreas. 2003 Sep;4(5):169-77	CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients		167790	25591	2	2003	 Mutations in the CFTR gene represent the major cause of idiopathic chronic pancreatitis in Brazilian patients. No mutation was found in the PRSS1 gene among our patients suggesting further genetic heterogeneity for hereditary and idiopathic chronic pancreatitis. Interestingly, the most frequent SPINK1 N34S mutation was not present in patients or controls. Moreover, the -253C allele for the SPINK1 gene was significantly more frequent in patients than controls (P=0.004), suggesting that it might represent a risk factor for the development of pancreatitis in our population.	Control:200 unrelated individuals with an ethnic distribution comparable to the patients;Case:82 unrelated Brazilian patients with chronic pancreatitis (alcohol-related disease in 64, idiopathic disease in 16, and hereditary disease in:2)										
137107		Schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TNXB	32116910	32185131		Liu LL 2004	14729256				Tenascin XB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019105.5			KGB	7148	Hs.42853			Neuroscience letters. 2004 Jan;355(2-Jan):149-51	Lack of a genetic association between the TNXB locus and schizophrenia in a Chinese population.		600985	6142	1	2004												
137332		Suicide	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Courtet P 2004	14706424				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			KGB	7166	Hs.591999			Biological psychiatry. 2004 Jan;55(1):46-51	Serotonin transporter gene may be involved in short-term risk of subsequent suicide attempts.		191060	6263	1	2004	 These results suggest that the 5-HTTLPR SS genotype is associated with further suicide attempts among patients who have previously attempted suicide.	Cohort 103 patients hospitalized after a suicide attempt followed-up after 1 year										
137379	Y	suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Rujescu, D.  et al. 2003	12915291				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Caucasian		CDC GDPinfo	7166	Hs.591999			Biological psychiatry. 2003 Aug;54(4):465-73	Genetic variations in tryptophan hydroxylase in suicidal behavior. analysis and meta-analysis		191060	19978	2	2003	 Our meta-analysis provides strong evidence for an association of suicide-related behavior with an A218 single-nucleotide polymorphism in the TPH gene in Caucasians. Because this variation do not seem to alter functional properties of the TPH gene or protein, functional variations remain to be identified and subsequently tested for association with suicide-related behavior.	Control:1,179 controls for the meta-analysis;Case:147 suicide attempters;Control:326 healthy control subjects of German descent;Case:898 patients with suicide related behavior for the:meta-analysis										
141940	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4		TS13				Iacopetta, B.  et al. 2001	11556832			promoter	Temperature sensitivity complementation, ts13				CDC GDPinfo	7896				British journal of cancer. 2001 Sep;85(6):827-30	A polymorphism in the enhancer region of the thymidylate synthase promoter influences the survival of colorectal cancer patients treated with 5-fluorouracil		187320	14532	2	2001	These results demonstrate that a polymorphism within the TS gene, probably through its effect on TS expression levels, can influence the survival benefit obtained by CRC patients from 5-FU-based chemotherapy.	Cohort 221 Dukes' C stage CRC patients 										
141942		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4		TS13				Adleff, V.  et al. 2004	14712487				Temperature sensitivity complementation, ts13			Hungary	CDC GDPinfo	7896				International journal of cancer. Journal international du cancer. 2004 Mar;108(6):852-6	Heterozygote deficiency in thymidylate synthase enhancer region polymorphism genotype distribution in Hungarian colorectal cancer patients		187320	14535	2	2004	The observation that heterozygotes are those less susceptible for CRC in the Hungarian population may support the possibility of 2 different pathways in which TS may play a role in colorectal carcinogenesis, probably nutrient (or folate)-dependently. The lack of similar genotype effect seen with TS1494del polymorphism and the increased presence of one genotype combination (3R3R&ins6/del6) in the patient group suggest a possible TS haplotype effect influencing CRC risk.	Control:102 healthy controls;Case:99 primary colorectal cancer cases:Hungary										
141959	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	17	17p13.1	TNFSF13	7393098	7405649		Koyama, T.  et al. 2003	12730512				Tumor necrosis factor (ligand) superfamily, member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003808.2			CDC GDPinfo	8741	Hs.54673			Rheumatology (Oxford, England). 2003 Aug;42(8):980-5	A novel polymorphism of the human APRIL gene is associated with systemic lupus erythematosus		604472	14431	2	2003	 The 67G allele of APRIL may be a contributing factor in the pathogenesis of SLE.	Control:146 unaffected controls;Case:148 Japanese systemic lupus erythematosus patients										
136434		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223			16371473				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	African children		CDC GDPinfo	54106	Hs.87968			Proceedings of the National Academy of Sciences of the United States of America. 2006 Jan;103(1):177-82	Toll-like receptor (TLR) polymorphisms in African children: Common TLR-4 variants predispose tosevere malaria		605474	25664	2	2005												
142038		liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A10	234191029	234346690		Ehmer, U.  et al. 2004	15057901				UDP glycosyltransferase 1 family, polypeptide A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54575	HS.516772			Hepatology (Baltimore, Md). 2004 Apr;39(4):970-7	Variation of hepatic glucuronidation: Novelfunctional polymorphisms of the UDP-glucuronosyltransferase UGT1A4.		606435	20116	2	2004	Two polymorphisms of the hepatic UGT1A4 protein show a differential metabolic activity toward mutagenic amines and endogenous steroids, altering hepatic metabolism and detoxification.	Case:128 patietns with hepatocellular carcinoma;Control:235 blood donors										
142052		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Feng, F. Y.  et al. 2005	16159430				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDPinfo	54577	HS.278896			Ai zheng. 2005 Sep;24(9):1085-90	[Correlation of polymorphisms of UDP-glucuronosyltransferase 1A7 gene to genetic susceptibility of lung cancer]		606432	14676	2	2005	 UGT1A7 gene polymorphisms may increase the genetic susceptibility of lung adenocarcinoma in Chinese.											
142073		kidney transplant complications	IMMUNE	IMM		2	2q37	UGT1A9	234191029	234346690		Kuypers, D. R.  et al. 2005	16198654			promoter	UDP glycosyltransferase 1 family, polypeptide A9				CDC GDPinfo	54600	Hs.124112			Clinical pharmacology and therapeutics. 2005 Oct;78(4):351-61	The impact of uridine diphosphate-glucuronosyltransferase 1A9 (UGT1A9) gene promoter region single-nucleotide polymorphisms T-275A and C-2152T on early mycophenolic acid dose-interval exposure in de novo renal allograft recipients.		606434	14680	2	2005	 The T-275A and C-2152T SNPs of the UGT1A9 gene promoter are associated with significantly lower MPA exposure in renal recipients treated with 2 g mycophenolate mofetil daily, and part of this effect is caused by interruption of enterohepatic recirculation of MPA.		mycophenolic acid									
142148		breast cancer; testosterone; estradiol	CANCER	CAN	Breast Neoplasms	2	2q37	UGT1A1	234191029	234346690		Sparks, R.  et al. 2004	15318931				UDP glycosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDPinfo	54658	HS.278896			Breast cancer research. 2004 ;6(5):R488-98	UDP-glucuronosyltransferase and sulfotransferase polymorphisms, sex hormone concentrations, and tumor receptor status in breast cancer patients.		191740	23869	2	2004	 The risk of ER- breast cancer tumors may vary by UGT or SULT genotype. Further, plasma estradiol and testosterone concentrations in breast cancer patients may differ depending on some UGT and SULT genotypes.	Cohort 163 breast cancer patients from a population-based cohort study of women western Washington 										
142404	Y	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-B	31344507	31432914		Mizuki N et al. 1993	8213969	HLA-B51				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		Japan	KGB	3106	Hs.77961			American journal of ophthalmology. 1993 Oct;116(4):406-9	Behcet's disease associated with one of the HLA-B51 subantigens HLA-B* 5101.		142830	7769	1	1993												
124522		Parkinson's disease	NEUROLOGICAL	NEUR		1	1p13.3	GSTM1	110031964	110037890		Nishio, K.  et al. 2004	15279067				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDPinfo	2944	Hs.301961			Nagoya journal of medical science. 2004 May;67(2-Jan):45-9	Genotype announcement in a genetic polymorphism study for health checkup examinees at Nagoya University Hospital		138350	26035	2	2004	To date, there have been no complaints from the participants, indicating that the announcement of polymorphism genotypes may be accepted differently from that of hereditary disease genotypes.	Cohort 254 health checkup examinees who attended a basic couse at Nagoya University Hospital 										
117263	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Yamagata, H.  et al. 2004	15358178			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDPinfo	348	Hs.515465			Biochemical and biophysical research communications. 2004 Aug;321(2):320-3	Promoter polymorphism in fibroblast growth factor 1 gene increases risk of definite Alzheimer's disease		107741	10703	2	2004	The results showed that the FGF1 gene is associated with autopsy-confirmed AD.	Case:100 Japanese autopsy-confirmed late-onset Alzheimer's disease patients;Control:106 age-matched non-demented controls										
114533		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Katzov H 2004	15024730				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	European		KGB	19	Hs.429294			Human mutation. 2004 Apr;23(4):358-67	Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism.		600046	86	1	2004												
127826	N	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442	n	Ki CS et al. 2001	11409441				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Korean	Korea	KGB	3552	Hs.1722			Annals of neurology. 2001 Jun;49(6):817-8	Lack of association of the interleukin-1alpha gene polymorphism with Alzheimer's disease in a Korean population.		147760	3465	1	2001												
126897		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36-p35	HTR6	19864366	19878642		Orlacchio A et al. 2002	12023056				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			KGB	3362	Hs.22180			Neuroscience letters. 2002 May;325(1):13-6	Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease.		601109	3343	1	2002												
143442	Y	diabetes, type 1	IMMUNE	IMM		16	16p13.13	KIAA0350	10945942	11183539	6.12  X 10-8	Hakon Hakonarson et al Nature 2007	17632545			other	KIAA0350	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_015226.1			KGB	23274	Hs.35490			Nature	A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene	rs2903692, rs725613, rs17673553				2007	The almost exclusive expression specificity of KIAA0350 in immune cells, including dendritic cells, B lymphocytes and natural killer (NK) cells, all of which are pivotal in the pathogenesis of T1D indicates that the variant probably contributes to the disease by modulating immunity.	case-control odds ratio (OR) range 0.65?0.66										
143461	N	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Ophthalmic Genet. 2007 Jun;28(2):77-81	17558849			other	nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	South Indian		Uthra S	4846	Hs.647092	Diabetic Retinopathy		Ophthalmic Genetics	Intron 4 VNTR of endothelial nitric oxide synthase (eNOS) gene and diabetic retinopathy in type 2 patients in southern India.		163729			2007	Our results suggest lack of association of intron 4 VNTR of eNOS gene with DR in southern India.	187 cases and 188 controls; Type 2 diabetic patients										
143541		memory performance	NEUROLOGICAL	NEUR	Alzheimer Disease|Memory Disorders|Diseases in Twins	12	12p13.3-p12.3	A2M	9111570	9159825		Reynolds CA et al. 2006	16402284	.			Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDP info	2	Hs.212838			Behav Genet    2006        1-10	Longitudinal Memory Performance During Normal Aging		103950		CDC	2006												
143542		essential tremor Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Essential Tremor|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Xiao, Y.  et al. 2006	16456795				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDP info	2	Hs.212838			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    84-5	Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease.		103950		CDC	2006	(1) The polymorphism at the site of G/A might be associated with PD, but there might be no genetic association of polymorphism at this site with ET. (2) There might be no association of polymorphism at the site of I/D with PD and ET in North China.											
143543		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Depboylu, C.  et al. 2006	16650578				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4		Germany	CDC GDP info	2	Hs.212838			Neurosci Lett    2006	alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease		103950		CDC	2006												
143545	Y	alpha-2-macroglobulin concentration obesity	METABOLIC	MET	Obesity	12	12p13.3-p12.3	A2M	9111570	9159825		Rugsarash, W.  et al. 2006	16910174				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4	Thai		CDC GDP info	2	Hs.212838			Nutr Neurosci    2006    9(1-2)    93-8	The genetic association between alpha-2-macroglobulin (A2M) gene deletion polymorphism and low serum A2M concentration in overweight/obese Thais		103950		CDC	2006												
143546		sleep time variation	NEUROLOGICAL	NEUR		17	17q25	AANAT	71975245	71977794		Pereira, D. S.  et al. 2007	17503170				Arylalkylamine N-acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001088.1	Brazilian		CDC GDP info	15	Hs.431417			Behav Genet    2007	The G619A Aa-nat Gene Polymorphism does not Contribute to Sleep Time Variation in the Brazilian Population		600950		CDC	2007												
143547		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	9	9q31.1	ABCA1	106583104	106730257			16542392				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Caucasian		CDC GDP info	19	Hs.429294			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		600046		CDC	2006												
143549	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Klos, K. L.  et al. 2006	16763159				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		600046		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
143550	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Bauerfeind, A.  et al. 2006	16770077				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	Caucasian;German; Swiss		CDC GDP info	19	Hs.429294			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		600046		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
143551	Y	cholesterol cholesterol, HDL cholesterol, LDL triglycerides	METABOLIC	MET	Hypoalphalipoproteinemias	9	9q31.1	ABCA1	106583104	106730257		Saleheen, D.  et al. 2006	16806540				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Int J Cardiol    2006	A novel haplotype in ABCA1 gene effects plasma HDL-C concentration		600046		CDC	2006	ABCA1 polymorphisms are associated with varying levels of HDL-C in Pakistani individuals. These results warrant further investigations as ABCA1 polymorphisms may have a major role in the high incidence of cardiovascular disorders in South Asians.											
143552	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	9	9q31.1	ABCA1	106583104	106730257		Manresa, J. M.  et al. 2006	17001213				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Eur J Cardiovasc Prev Rehabil    2006    13(5)    738-744	Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease		600046		CDC	2006	Three of the genetic variants analysed, PPAR-alpha-L162V, LPL-HindIII, and TNF-alpha-G-308A, were associated with non-classical risk factors, specifically lipid profile, inflammation, and oxidative status.		cardiovascular risk factors									
143554		cholesterol, HDL	METABOLIC	MET	Overweight	9	9q31.1	ABCA1	106583104	106730257		Porchay, I.  et al. 2006	17135600				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2	French		CDC GDP info	19	Hs.429294			Obesity (Silver Spring)    2006    14(11)    1874-9	ABCA1 Single Nucleotide Polymorphisms on High-Density Lipoprotein-Cholesterol and Overweight		600046		CDC	2006			obesity									
143555		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Wavrant-De Vrieze, F.  et al. 2007	17324514				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Neurosci Lett    2007	ABCA1 polymorphisms and Alzheimer's disease		600046		CDC	2007												
143556		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Wang, F.  et al. 2007	17335784				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Brain Res    2007	Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese		600046		CDC	2007												
143557	Y	cholesterol, HDL hypertriglyceridemia triglycerides	METABOLIC	MET		9	9q31.1	ABCA1	106583104	106730257		Wu, Y.  et al. 2007	17407076				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    177-81	Analysis of ATP binding cassette A1 gene R219K polymorphism in patients with endogenous hypertriglyceridemia in Chinese population.		600046		CDC	2007	These results suggest that R219K polymorphism in ABCA1 gene is not only associated with serum HDL-C and TG levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level and TC/HDL-C ratio in subjects with endogenous HTG.											
143558		Alzheimer's disease apolipoprotein E levels	NEUROLOGICAL	NEUR		9	9q31.1	ABCA1	106583104	106730257		Wahrle, S. E.  et al. 2007	17430597				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Mol Neurodegener    2007    2(1)    7	Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms		600046		CDC	2007	We found that CSF apoE levels vary widely between individuals, but are stable within individuals over a two-week interval. AD status, APOE genotype, gender and race do not affect CSF apoE levels, but average CSF apoE levels increase with age. Given the lack of association between CSF apoE levels and genotypes for the ABCA1 SNPs we examined, either these SNPs											
143559	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		9	9q31.1	ABCA1	106583104	106730257		Wang, F.  et al. 2007	17550732				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Zhonghua Yi Xue Za Zhi    2007    87(9)    614-8	Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease		600046		CDC	2007	The CYP46 intron 2 polymorphism may not be associated with the risk of AD, but AA genotype or A allele of ABCA1 gene may have a protective effect for AD in Han Chinese.											
143560	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Balcerzyk, A.  et al. 2007	17608096				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Acta Cardiol    2007    62(3)    233-8	Synergistic effect between polymorphisms of PPARA and ABCA1 genes on the premature coronary artery disease		600046		CDC	2007	The present study shows that R219K polymorphism of ABCA1 gene and G > C polymorphism in intron 7 of PPARA gene act cumulatively and synergistically in determining the risk of premature CAD.											
143561	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q34	ABCA2	139021506	139043195		Wollmer, M. A.  et al. 2006	16752360				ATP-binding cassette, sub-family A (ABC1), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001606	Japanese;Caucasian;European		CDC GDP info	20	Hs.421202			Am J Med Genet B Neuropsychiatr Genet    2006	Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease		600047		CDC	2006												
143563	Y	cone-rod dystrophy macular dystrophy retinitis pigmentosa	VISION	VIS	Retinal Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293		Valverde, D.  et al. 2007	17325136				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2		Spain	CDC GDP info	24	Hs.416707			Invest Ophthalmol Vis Sci    2007    48(3)    985-90	Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients		601691		CDC	2007	In the population studied, ABCA4 plays an important role in the pathogenesis of arCRD.											
143564			METABOLIC	MET	Cholestasis	2	2q24	ABCB11	169487694	169596079		Lang, T.  et al. 2006	16763017				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2	Japanese;Caucasian;Korean		CDC GDP info	8647	Hs.158316			Drug Metab Dispos    2006	GENETIC VARIABILITY, HAPLOTYPE STRUCTURES, AND ETHNICAL DIVERSITY OF HEPATIC TRANSPORTERS MDR3 (ABCB4) AND BSEP (ABCB11)		603201		CDC	2006												
143565	N	cholelithiasis	METABOLIC	MET	Gallstones|Genetic Predisposition to Disease	2	2q24	ABCB11	169487694	169596079		Schafmayer, C.  et al. 2006	16941683				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2	German		CDC GDP info	8647	Hs.158316			Hepatology    2006    44(3)    650-657	Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease		603201		CDC	2006	in the investigated German sample, no evidence of association of ABCB11 and LXRA to gallstone susceptibility was detected.											
143567	N	digoxin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500			16042669	ABCB1 C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese;Caucasian	Japan	CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2005    60(2)    159-71	Meta-analysis of the influence of MDR1 C3435T polymorphism on digoxin pharmacokinetics and MDR1 gene expression		171050		CDC	2005	Our meta-analysis of available studies indicates that the synonymous MDR1 C3435T SNP does not affect the pharmacokinetics of digoxin and the expression of MDR1 mRNA. Future studies should focus on the impact of MDR1 haplotypes on the pharmacokinetics of MDR1 substrates rather than the C3435T SNP alone.											
143568	N	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	7	7q21.1	ABCB1	86970883	87180500		Palmieri, O.  et al. 2005	16305727				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Italian		CDC GDP info	5243	Hs.489033			Aliment Pharmacol Ther    2005    22(11-12)    1129-38	Multidrug resistance 1 gene polymorphisms are not associated with inflammatory bowel disease and response to therapy in Italian patients		171050		CDC	2005	The investigated polymorphisms of the multidrug resistance 1 gene have no significant role in disease susceptibility and response to medical therapy in our Italian population of inflammatory bowel disease patients.		immunosuppressive agents infliximab mesalazine steroids									
143569		CYP2D6 activity CYP3A4 activity	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Funck-Brentano, C.  et al. 2005	16315033				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Eur J Clin Pharmacol    2005    61(11)    821-9	Measurement of CYP2D6 and CYP3A4 activity in vivo with dextromethorphan		171050		CDC	2005	Dextromethorphan can be used for CYP2D6 phenotyping, but the CYP2D6 and CYP3A4 metabolic ratios are not strictly independent one from each other.		dextromethorphan									
143570	N	saquinavir pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Mouly, S. J.  et al. 2005	16338276				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2005    78(6)    605-18	Variation in oral clearance of saquinavir is predicted by CYP3A5*1 genotype but not by enterocyte content of cytochrome P450 3A5		171050		CDC	2005	The CYP3A5*1 genotype is associated with$$$ increased saquinavir CL/F. This does not appear to reflect intestinal CYP3A5 expression and presumably reflects the contribution of hepatic CYP3A5. The interaction with Seville orange juice in subjects not expressing CYP3A5 supports a role for intestinal CYP3A4. However, the modest nature of the interaction, combined with the inability to detect a correlation between CL/F and CYP3A4 enterocyte content, supports our recent in vitro work suggesting a smaller contribution of intestinal CYP3A4 than has been assumed.											
143571	Y	antiemetic response	PHARMACOGENOMIC	PHARM	Neoplasms|Nausea|Vomiting	7	7q21.1	ABCB1	86970883	87180500		Babaoglu, M. O.  et al. 2005	16338277			coding sequence	ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Turkish		CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2005    78(6)    619-26	Association of the ABCB1 3435C>T polymorphism with antiemetic efficacy of 5-hydroxytryptamine type 3 antagonists		171050		CDC	2005	These results suggest that ABCB1 3435C>T polymorphism is associated with antiemetic treatment efficacy in patients with cancer treated with 5-HT(3) antagonists, particularly in granisetron-treated patients, within 24-hours of chemotherapy.											
143572	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500			16409819				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Zhonghua Yi Xue Za Zhi    2005    85(46)    3277-81	Relationshop between MDR1 gene polymorphism and blood concentration of tacrolimus in renal transplant patients.		171050		CDC	2005	The MDR1 gene polymorphism is correlated with the whole blood concentration of FK506.											
143573		C-reactive protein gingival overgrowth	PHARMACOGENOMIC	PHARM	Gingival Hyperplasia	7	7q21.1	ABCB1	86970883	87180500			16413242				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		Germany	CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    79(1)    62-71	MDR1 gene polymorphisms and risk of gingival hyperplasia induced by calcium antagonists		171050		CDC	2006	Treatment with calcium antagonists leads to gingival hyperplasia, which is associated with the MDR1 G2677T/A polymorphism. The MDR1 genotype may modify the inflammatory response to the drugs.		calcium antagonists									
143574	Y	tacrolimus pharmcokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Wang, J.  et al. 2006	16431292				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transpl Immunol    2006    15(3)    235-40	Impact of ABCB1 (MDR1) haplotypes on tacrolimus dosing in adult lung transplant patients who are CYP3A5 *3/*3 nonexpressors		171050		CDC	2006	This study demonstrates that ABCB1 haplotypes derived from three common polymorphisms are associated with tacrolimus dosing in lung transplant patients when eliminating the confounder CYP3A5 genotype.											
143576		colorectal cancer Crohn's disease ulcerative colitis	CANCER	CAN	Colorectal Neoplasms|Inflammatory Bowel Diseases	7	7q21.1	ABCB1	86970883	87180500		Lee, B. I.  et al. 2006	16434865				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Korean J Gastroenterol    2006    47(1)    22-9	Is C3435T Polymorphism of MDR1 Related to Inflammatory Bowel Disease or Colorectal Cancer in Korean?		171050		CDC	2006	MDR1 C3435T polymorphism is also present in Korean and the dominant allele is C.											
143577	Y	ovarian cancer	PHARMACOGENOMIC	PHARM	Ovarian Neoplasms|Disease Progression|Recurrence	7	7q21.1	ABCB1	86970883	87180500		Green, H.  et al. 2006	16467099	ABCB1  polymorphism G2677T/A in exon 21			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Cancer Res    2006    12(3)    854-9	mdr-1 Single Nucleotide Polymorphisms in Ovarian Cancer Tissue		171050		CDC	2006	The mdr-1 polymorphism G2677T/A in exon 21 correlates with the paclitaxel response in ovarian cancer and may be important for the function of P-glycoprotein and resistance to paclitaxel and provide useful information for individualized therapy.		paclitaxel									
143578	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Sohn, J. W.  et al. 2006	16478794	ABCB1  2677G>T and 3435C>T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Jpn J Clin Oncol    2006	MDR1 Polymorphisms Predict the Response to Etoposide-Cisplatin Combination Chemotherapy in Small Cell Lung Cancer		171050		CDC	2006	Our findings suggest that the MDR1 2677G>T and 3435C>T polymorphisms can be used for predicting treatment response to etoposide-cisplatin chemotherapy in SCLC patients.		cisplatin etoposide									
143579		dexamethasone pharmacokinetics	PHARMACOGENOMIC	PHARM	Colitis, Ulcerative|Crohn Disease	7	7q21.1	ABCB1	86970883	87180500		Annese, V.  et al. 2006	16494108				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Eur Rev Med Pharmacol Sci    2006    10(1)    27-31	The polymorphism of multi-drug resistance 1 gene (MDR1) does not influence the pharmacokinetics of dexamethasone loaded into autologous erythrocytes of patients with inflammatory bowel disease		171050		CDC	2006	Our findings demonstrated that Dex plasma level, after infusion of autologous erythrocytes loaded with Dex 21-P are completely independent by the MDR 1 gene polymorphism. This could be another potential advantage of this modality of drug delivering.											
143580		9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Zamboni, W. C.  et al. 2006	16505951				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Invest New Drugs    2006	Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypes		171050		CDC	2006	These findings suggest that inter-individual variability in 9AC disposition, but not 9NC, may be influenced, in part, by ABCG2 genotype. In contrast, there was no evidence for a relationship between ABCG2 and the disposition of 9NC, or for relationships between ABCB1 and ABCC2 genotypes and the disposition of 9NC or 9AC.											
143581		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	7	7q21.1	ABCB1	86970883	87180500		Monzo, M.  et al. 2006	16507781				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	French		CDC GDP info	5243	Hs.489033			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		171050		CDC	2006			chemotherapy									
143583	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500			16531628				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian;Polish	Poland	CDC GDP info	5243	Hs.489033			Pharmacol Rep    2006    58(1)    35-40	Frequency of common MDR1 gene variants in a Polish population		171050		CDC	2006												
143585	N	epilepsy, multidrug-resistant	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500			16542858	ABCB1  C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Seizure    2006	Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy		171050		CDC	2006												
143586		morphine response	PHARMACOGENOMIC	PHARM	Pain, Postoperative|Postoperative Nausea and Vomiting	7	7q21.1	ABCB1	86970883	87180500		Coulbault, L.  et al. 2006	16580900				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    79(4)    316-324	Environmental and genetic factors associated with morphine response in the postoperative period		171050		CDC	2006	Age and prior use of psychotropic agents are associated with postoperative morphine dose requirements.											
143587		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Honda, M.  et al. 2006	16595916				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		171050		CDC	2006												
143588	Y	liver transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Wei-Lin, W.  et al. 2006	16628701				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Liver Transpl    2006    12(5)    775-780	Tacrolimus dose requirement in relation to donor and recipient ABCB1 and CYP3A5 gene polymorphisms in Chinese liver transplant patients		171050		CDC	2006	our finding suggests that the recipients\ ABCB1 and donors\ CYP3A5 genotype affect the tacrolimus dose requirements. ABCB1 C3435T polymorphism is a major determinant of tacrolimus trough concentration in Chinese liver transplant recipients, and recipients with 3435CC genotype will require higher dose of tacrolimus.		tacrolimus									
143589	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Disease Progression	7	7q21.1	ABCB1	86970883	87180500		Onnie, C. M.  et al. 2006	16633048				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Inflamm Bowel Dis    2006    12(4)    263-271	Associations of Allelic Variants of the Multidrug Resistance Gene (ABCB1 or MDR1) and Inflammatory Bowel Disease and Their Effects on Disease Behavior		171050		CDC	2006	These results indicate that ABCB1 sequence variants are associated with a small increase in the risk of developing UC and may influence disease behavior.											
143590		colorectal cancer esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Colorectal Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Komoto, C.  et al. 2006	16702732				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese;Caucasian	Japan	CDC GDP info	5243	Hs.489033			Drug Metab Pharmacokinet    2006    21(2)    126-32	MDR1 Haplotype Frequencies in Japanese and Caucasian, and in Japanese Patients with Colorectal Cancer and Esophageal Cancer		171050		CDC	2006												
143591		cholesterol, HDL cholesterol, LDL heart transplant	PHARMACOGENOMIC	PHARM	Hyperlipoproteinemia Type II	7	7q21.1	ABCB1	86970883	87180500		Hedman, M.  et al. 2006	16722833				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2006    61(6)    706-15	Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes		171050		CDC	2006	In children with HeFH and in paediatric cardiac transplant recipients receiving immunosuppressive medication, the -11187G > A and SLCO1B1 521T > C SNPs were associated with decreased plasma concentrations of pravastatin. These differences are opposite to those seen previously in healthy adults. The mechanisms underlying these phenomena are unclear and warrant further study.		pravastatin									
143592	Y	epilepsy	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Seo, T.  et al. 2006	16753003				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Japanese;European		CDC GDP info	5243	Hs.489033			Pharmacogenomics    2006    7(4)    551-561	ABCB1 polymorphisms influence the response to antiepileptic drugs in Japanese epilepsy patients		171050		CDC	2006	We demonstrated that ABCB1 polymorphisms may influence the AED responsiveness without significant changes in the plasma concentrations of CBZ.		antiepileptic drugs									
143593		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Cheung, C. Y.  et al. 2006	16753004				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacogenomics    2006    7(4)    563-574	Influence of different allelic variants of the CYP3A and ABCB1 genes on the tacrolimus pharmacokinetic profile of Chinese renal transplant recipients		171050		CDC	2006	the CYP3A5*3 polymorphism may be an important factor in determining the dose requirement for tacrolimus and genotyping can help determine the initial daily dose required by individual patients for adequate immunosuppression.											
143594	N	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Tran, A.  et al. 2006	16765145				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		171050		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
143595		allogenic stem cell transplantation	IMMUNE	IMM		7	7q21.1	ABCB1	86970883	87180500		Kim, D. H.  et al. 2006	16769591				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Haematologica    2006    91(6)    848-51	The association between multidrug resistance-1 gene polymorphisms and outcomes of allogeneic HLA-identical stem cell transplantation		171050		CDC	2006	the G2677T/A genotype seems to be associated with transplantation outcomes, especially non-relapse mortality.											
143596			NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Bosch, T. M.  et al. 2006	16771603				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		171050		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
143597		inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases	7	7q21.1	ABCB1	86970883	87180500		Annese, V.  et al. 2006	16773678				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			World J Gastroenterol    2006    12(23)    3636-3644	Multidrug resistance 1 gene in inflammatory bowel disease		171050		CDC	2006												
143598		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Anderson, P. L.  et al. 2006	16791115				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		171050		CDC	2006												
143600		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Bae, S. Y.  et al. 2006	16800822				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Cancer Sci    2006	Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans		171050		CDC	2006			smoking (tobacco)									
143601		ovarian cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Ovarian Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Obata, H.  et al. 2006	16821592				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Anticancer Res    2006    26(3B)    2227-32	Association between single nucleotide polymorphisms of drug resistance-associated genes and response to chemotherapy in advanced ovarian cancer		171050		CDC	2006	Analysis of drug resistance gene polymorphism appears to be an indicator of the response to chemotherapy in advanced ovarian cancer.		chemotherapy									
143602	Y	cyclosporine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Azarpira, N.  et al. 2006	16827636	(3435CC)			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Iranian		CDC GDP info	5243	Hs.489033			Exp Clin Transplant    2006    4(1)    416-9	Association between Cyclosporine Concentration and Genetic Polymorphisms of CYP3A5 and MDR1 during the Early Stage after Renal Transplantation		171050		CDC	2006	MDR-1 (3435CC) polymorphisms are associated with CsA pharmacokinetics and dose requirements in the first few days after renal transplantation. Pharmacogenetic methods could be used to help select the initial dosage and individualize immunosuppressive therapy. According to our results, the major genotype of our recipients is CYP3A5*3/*3. According to the literature, the recommended starting dosage of CsA is 9-14 mg/kg/day; however, the Iranian population has a good response with lower dosages (3-5 mg/kg/day), which may be explained by genetic differences.											
143603	Y	ebastine metabolism	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	ABCB1	86970883	87180500		Gervasini, G.  et al. 2006	16842392	ABCB1 (C3435T)			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2006    62(2)    177-86	The effect of CYP2J2, CYP3A4, CYP3A5 and the MDR1 polymorphisms and gender on the urinary excretion of the metabolites of the H-receptor antihistamine ebastine		171050		CDC	2006	Gender and the presence of the MDR1(C3435T) polymorphism both influence the excretion of ebastine metabolites in urine.											
143604		rifampicin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Niemi, M.  et al. 2006	16847425				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2006    16(8)    565-568	Effect of SLCO1B1 polymorphism on induction of CYP3A4 by rifampicin		171050		CDC	2006												
143606		epilepsy, temporal lobe	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Leschziner, G.  et al. 2006	16857572				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Lancet Neurol    2006    5(8)    668-76	Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response		171050		CDC	2006			antiepileptic drug therapy									
143607	Y	amlodipine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Kim, K. A.  et al. 2006	16869811				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2006	Effect of ABCB1 (MDR1) haplotypes derived from G2677T/C3435T on the pharmacokinetics of amlodipine in healthy subjects		171050		CDC	2006	Amlodipine pharmacokinetics was affected by the genetic polymorphisms of the ABCB1 gene in humans.											
143608		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Roy, J. N.  et al. 2006	16906020				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2006    16(9)    659-665	Cyp3A4, Cyp3A5, and MDR-1 genetic influences on tacrolimus pharmacokinetics in renal transplant recipients		171050		CDC	2006	The complete absence of Cyp3A5*3 allele and the accumulation of less than three copies of MDR-1 (T-129C, C3435T and G2677T) polymorphisms are associated with lower tacrolimus blood levels identifying these genotypes as markers for patients requiring higher tacrolimus doses.											
143609		nevirapine hepatotoxicity	PHARMACOGENOMIC	PHARM	HIV Infections|Liver Diseases	7	7q21.1	ABCB1	86970883	87180500		Haas, D. W.  et al. 2006	16912957				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Infect Dis    2006    43(6)    783-6	Pharmacogenetics of nevirapine-associated hepatotoxicity		171050		CDC	2006												
143610		mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Satoh, S.  et al. 2006	16926592				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplantation    2006    82(4)    486-493	Circadian Pharmacokinetics of Mycophenolic Acid and Implication of Genetic Polymorphisms for Early Clinical Events in Renal Transplant Recipients		171050		CDC	2006	MPA pharmacokinetics showed circadian variations, and a lower MPA AUC in both daytime and nighttime was associated with the occurrence of AR in the early stage after renal transplantation.											
143612	Y	paclitaxel toxicity	PHARMACOGENOMIC	PHARM	Peripheral Nervous System Diseases|Neutropenia	7	7q21.1	ABCB1	86970883	87180500		Sissung, T. M.  et al. 2006	16950614				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Eur J Cancer    2006	Association of ABCB1 genotypes with paclitaxel-mediated peripheral neuropathy and neutropenia		171050		CDC	2006												
143613		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Fredericks, S.  et al. 2006	16969296				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplantation    2006    82(5)    705-708	Multidrug Resistance Gene-1 (MDR-1) Haplotypes Have a Minor Influence on Tacrolimus Dose Requirements		171050		CDC	2006												
143614	N	Crohn's disease inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	7	7q21.1	ABCB1	86970883	87180500		Oostenbrug, L. E.  et al. 2006	16990202				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Scand J Gastroenterol    2006    41(10)    1174-82	Absence of association between the multidrug resistance (MDR1) gene and inflammatory bowel disease		171050		CDC	2006	No association was observed between the MDR1 gene and IBD.											
143615		dementia longevity	AGING	AGE		7	7q21.1	ABCB1	86970883	87180500		Frankfort, S. V.  et al. 2006	16999857				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Mol Neurodegener    2006    1(1)    13	ABCB1 genotypes and haplotypes in patients with dementia and age-matched non-demented control patients		171050		CDC	2006												
143617		mefloquine adverse effects	PHARMACOGENOMIC	PHARM	Nervous System Diseases|Mental Disorders	7	7q21.1	ABCB1	86970883	87180500		Aarnoudse, A. L.  et al. 2006	17015054				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    80(4)    367-374	MDR1 gene polymorphisms are associated with neuropsychiatric adverse effects of mefloquine		171050		CDC	2006	In this study the MDR1 1236TT, 2677TT, and 3435TT genotypes, along with the 1236-2677-3435 TTT haplotype, were associated with neuropsychiatric adverse effects of mefloquine in women. MDR1 polymorphisms may play an important role in predicting the occurrence of neuropsychiatric adverse effects of mefloquine, particularly in female travelers.											
143618	Y	docetaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms|Neoplasm Metastasis	7	7q21.1	ABCB1	86970883	87180500		Bosch, T. M.  et al. 2006	17020985				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Cancer Res    2006    12(19)    5786-93	Pharmacogenetic Screening of CYP3A and ABCB1 in Relation to Population Pharmacokinetics of Docetaxel		171050		CDC	2006	The polymorphism C1236T in the ABCB1 gene was significantly related to docetaxel clearance.											
143619		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	ABCB1	86970883	87180500		Mourad, M.  et al. 2006	17032130				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Chem Lab Med    2006    44(10)    1192-8	The influence of genetic polymorphisms of cytochrome P450 3A5 and ABCB1 on starting dose- and weight-standardized tacrolimus trough concentrations after kidney transplantation in relation to renal function		171050		CDC	2006	Prospective trials are needed to prove that a genetic approach to Tc pharmacokinetics and its related side effects during the early period after grafting may improve patient outcome.											
143620	N	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid	7	7q21.1	ABCB1	86970883	87180500		Jamroziak, K.  et al. 2006	17038891				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Ther Drug Monit    2006    28(5)    707-711	No Influence of 3435C>T ABCB1 (MDR1) Gene Polymorphism on Risk of Adult Acute Myeloid Leukemia and P-glycoprotein Expression in Blast Cells		171050		CDC	2006												
143621	N	kidney transplant	RENAL	REN		7	7q21.1	ABCB1	86970883	87180500		Hu, Y. F.  et al. 2006	17042920				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Exp Pharmacol Physiol    2006    33(11)    1093-8	Effects of genetic polymorphisms of cyp3a4, cyp3a5 and mdr1 on cyclosporine pharmacokinetics after renal transplantation		171050		CDC	2006	the present study shows that genetic polymorphisms in CYP3A5 may be responsible, in part, for the large interindividual variability of cyclosporine pharmacokinetics during the early phase after renal transplantation in Chinese patients.											
143623		HIV	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Motsinger, A. A.  et al. 2006	17047492				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2006    16(11)    837-45	Multilocus genetic interactions and response to efavirenz-containing regimens		171050		CDC	2006	Multilocus genetic interactions between variant drug metabolism and transporter genes may predict efavirenz pharmacokinetics and treatment responses.		efavirenz nelfinavir nucleoside analogues									
143624		tacrolimus pharmcokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Haufroid, V.  et al. 2006	17049058				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Am J Transplant    2006    6(11)    2706-13	CYP3A5 and ABCB1 Polymorphisms and Tacrolimus Pharmacokinetics in Renal Transplant Candidates		171050		CDC	2006	our study confirms the very significant effect of CYP3A5 polymorphism early after the first administration of Tac.											
143625	Y	schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	7	7q21.1	ABCB1	86970883	87180500		Xing, Q.  et al. 2006	17054409				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		China	CDC GDP info	5243	Hs.489033			Pharmacogenomics    2006    7(7)    987-993	Polymorphisms of the ABCB1 gene are associated with the therapeutic response to risperidone in Chinese schizophrenia patients		171050		CDC	2006			risperidone									
143627	Y	leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Jamroziak, K.  et al. 2006	17085864	ABCB1 gene polymorphism C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Pharmacol Rep    2006    58(5)    720-8	MDR1 (ABCB1) gene polymorphism C3435T is associated with P-glycoprotein activity in B-cell chronic lymphocytic leukemia		171050		CDC	2006												
143628		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Karlsen, T. H.  et al. 2006	17100974				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	European;Scandinavian	Scandinavia	CDC GDP info	5243	Hs.489033			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		171050		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
143630		cyclosporine levels	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	ABCB1	86970883	87180500		Foote, C. J.  et al. 2006	17112845				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplant Proc    2006    38(9)    2847-9	MDR1 C3435T Polymorphisms Correlate With Cyclosporine Levels in De Novo Renal Recipients		171050		CDC	2006	MDR1 SNPs are correlated with CsA exposure in the early post-transplant period. Polymorphisms, in conjunction with other criteria, may become a useful tool to optimize initial drug dosing in renal transplantation.											
143631		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	ABCB1	86970883	87180500		Li, D.  et al. 2006	17112846				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplant Proc    2006    38(9)    2850-2	Tacrolimus Dosing in Chinese Renal Transplant Patients Is Related to MDR1 Gene C3435T Polymorphisms		171050		CDC	2006												
143632			NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Lu, Y.  et al. 2006	17113562				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Caucasian;Indian;Singapore		CDC GDP info	5243	Hs.489033			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		171050		CDC	2006												
143633	Y	schizophrenia	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Bozina, N.  et al. 2006	17113599				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Psychiatr Res    2006	Associations between MDR1 gene polymorphisms and schizophrenia and therapeutic response to olanzapine in female schizophrenic patients		171050		CDC	2006			olanzapine									
143635	N	epilepsy, refractory	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Shahwan, A.  et al. 2006	17125969				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Epilepsy Res    2006	The controversial association of ABCB1 polymorphisms in refractory epilepsy		171050		CDC	2006												
143636		mood disorder schizophrenia	PSYCH	PSY	Mood Disorders|Schizophrenia	7	7q21.1	ABCB1	86970883	87180500		Qian, W.  et al. 2006	17142980				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Biol Pharm Bull    2006    29(12)    2446-50	MDR1 Gene Polymorphism in Japanese Patients with Schizophrenia and Mood Disorders Including Depression		171050		CDC	2006												
143637		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Osswald, E.  et al. 2006	17146660				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	European		CDC GDP info	5243	Hs.489033			Eur J Clin Pharmacol    2006	Association of MDR1 genotypes with susceptibility to colorectal cancer in older non-smokers		171050		CDC	2006	Our results show that the interaction of genetic and lifestyle risk factors should be taken into account to elucidate the genetic influence of MDR1 variability on cancer susceptibility.		smoking (tobacco)									
143639	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	7	7q21.1	ABCB1	86970883	87180500		Crettol, S.  et al. 2006	17178267				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		171050		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
143641	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	7	7q21.1	ABCB1	86970883	87180500		Takatori, R.  et al. 2006	17181924				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Exp Rheumatol    2006    24(5)    546-54	ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients		171050		CDC	2006	These results suggested that the genetic diagnosis of ABCB1 C3435T can be applied to determine MTX sensitivity for the treatment of RA patients.											
143642	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Pechandova, K.  et al. 2006	17184596				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Folia Biol (Praha)    2006    52(6)    184-9	Polymorphisms of the MDR1 Gene in the Czech Population		171050		CDC	2006												
143643	P		NORMALVARIATION	NV	Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Kimchi-Sarfaty, C.  et al. 2007	17187507				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Ashkenazi;Jewish		CDC GDP info	5243	Hs.489033			Pharmacogenomics    2007    8(1)    29-39	Ethnicity-related polymorphisms and haplotypes in the human ABCB1 gene		171050		CDC	2007	A total of 25 SNPs were located in the exons of the ABCB1 gene.											
143644	N	lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM	Gastroesophageal Reflux	7	7q21.1	ABCB1	86970883	87180500		Miura, M.  et al. 2006	17190370				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Int J Clin Pharmacol Ther    2006    44(12)    605-13	Influence of ABCB1 C3435T polymorphism on the pharmacokinetics of lansoprazole and gastroesophageal symptoms in Japanese renal transplant recipients classified as CYP2C19 extensive metabolizers and treated with tacrolimus		171050		CDC	2006												
143645	Y	fentanyl effects	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Park, H. J.  et al. 2006	17192767				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean	Korea	CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006	Genetic Polymorphisms in the ABCB1 Gene and the Effects of Fentanyl in Koreans		171050		CDC	2006	our results confirm ABCB1 genotype data for Koreans and suggest that analysis of ABCB1 polymorphisms may have clinical relevance to prevent respiratory suppression by intravenous fentanyl or to anticipate its clinical effects.											
143647		heart transplant	CARDIOVASCULAR	CARD		7	7q21.1	ABCB1	86970883	87180500		Girnita, D. M.  et al. 2006	17198275				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	African American		CDC GDP info	5243	Hs.489033			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		171050		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
143649	Y	cyclosporine resistance	PHARMACOGENOMIC	PHARM	Colitis, Ulcerative	7	7q21.1	ABCB1	86970883	87180500		Daniel, F.  et al. 2007	17206635	ABCB1  TT genotype of exon 21			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Inflamm Bowel Dis    2007    13(1)    19-23	Multidrug resistance gene-1 polymorphisms and resistance to cyclosporine a in patients with steroid resistant ulcerative colitis		171050		CDC	2007	The TT genotype of exon 21 MDR1 polymorphisms is associated with$$$ a higher risk of CsA failure in patients with steroid resistant UC.											
143650	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Ramasamy, K.  et al. 2006	17220567				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Caucasian		CDC GDP info	5243	Hs.489033			Drug Metab Pharmacokinet    2006    21(6)    506-8	Allele and Genotype Frequency of MDR1 C3435T in Tamilian Population		171050		CDC	2006												
143651	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Ryu, H. C.  et al. 2006	17225463				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Korean	Korea	CDC GDP info	5243	Hs.489033			Arch Pharm Res    2006    29(12)    1132-9	Analyses of single nucleotide polymorphisms and haplotype linkage of the human ABCB1 (MDR1) gene in Korean		171050		CDC	2006												
143653	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Cucchiara, S.  et al. 2007	17255827				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Pediatr Gastroenterol Nutr    2007    44(2)    171-9	Polymorphisms of tumor necrosis factor-alpha but not MDR1 influence response to medical therapy in pediatric-onset inflammatory bowel disease		171050		CDC	2007	In our pediatric cohort, the promoter -308A polymorphism of TNF-alpha but not the MDR1 gene is significantly involved in the predisposition to both CD and UC. This polymorphism carries a significant reduction in response to steroid therapy, probably leading to a more frequent need for surgical resection.											
143654		lung cancer	CANCER	CAN	Lung Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Gemignani, F.  et al. 2007	17259654				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Carcinogenesis    2007	Development of lung cancer before the age of 50		171050		CDC	2007												
143655	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Ardizzone, S.  et al. 2007	17260353				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Inflamm Bowel Dis    2007	Multidrug resistance 1 gene polymorphism and susceptibility to inflammatory bowel disease		171050		CDC	2007	The results of our study suggest that MDR1 gene polymorphism could have a role in determining susceptibility to IBD.		family history									
143656	Y	Crohn's disease	PHARMACOGENOMIC	PHARM	Crohn Disease	7	7q21.1	ABCB1	86970883	87180500		Mendoza, J. L.  et al. 2007	17262810	ABCB1   2677T/3435T haplotype			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Inflamm Bowel Dis    2007	MDR1 polymorphisms and response to azathioprine therapy in patients with Crohn's disease		171050		CDC	2007	The results of our study indicate higher frequencies of the 2677TT and 3435TT genotypes and the 2677T/3435T haplotype in CD patients who did not respond to azathioprine. Additional replications in independent populations would confirm the real impact of these polymorphisms in response to azathioprine therapy.		azathioprine									
143657			NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Li, D.  et al. 2007	17286792				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Caucasian	China	CDC GDP info	5243	Hs.489033			J Clin Pharm Ther    2007    32(1)    89-95	Genetic polymorphisms in MDR1 and CYP3A5 and MDR1 haplotype in mainland Chinese Han, Uygur and Kazakh ethnic groups		171050		CDC	2007	Significant interethnic differences in MDR1 haplotype and CYP3A5 variant frequencies exist between mainland Chinese Han and Caucasians, and the intermediate frequencies observed in Chinese Uygur and Kazakh might be due to the genetic admixture of Eurasians and Orientals.											
143658		multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	7	7q21.1	ABCB1	86970883	87180500		Schilthuizen, C.  et al. 2007	17296590				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		171050		CDC	2007			chemotherapy									
143659		endometrial cancer	CANCER	CAN	Carcinoma|Endometrial Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Mrozikiewicz, P. M.  et al. 2007	17300681				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Int J Gynecol Cancer    2007	The significance of C3435T point mutation of the MDR1 gene in endometrial cancer		171050		CDC	2007												
143661	Y	aldosterone blood pressure, arterial kidney function left ventricular function	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Zolk, O.  et al. 2007	17301693				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2007    17(2)    137-44	MDR1 genotype-dependent regulation of the aldosterone system in humans		171050		CDC	2007	The present study demonstrates that the ABCB1 3435 genotype affects angiotensin II-stimulated serum aldosterone levels and salt-stimulated urinary sodium excretion. Although blood pressure and cardiac structure were unchanged in this young study population, our findings indicate a new link between MDR1 genotype and the aldosterone system in humans.		salt									
143662	N	epilepsy	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Chen, L.  et al. 2007	17306068	ABCB1  C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3		China	CDC GDP info	5243	Hs.489033			Zhongguo Dang Dai Er Ke Za Zhi    2007    9(1)    11-14	Association of a polymorphism in MDR1 C3435T with response to antiepileptic drug treatment in ethic Han Chinese children with epilepsy.		171050		CDC	2007	There is no an association between the CC genotype or C allele at the locus of C3435T in MDR1 gene and response to antiepileptic drug treatment in ethnic Han Chinese children with epilepsy.		antiepileptic drug									
143663		gefitinib pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Li, J.  et al. 2007	17312388				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Cancer Biol Ther    2007    6(3)	Association of Variant ABCG2 and the Pharmacokinetics of Epidermal Growth factor Receptor Tyrosine Kinase Inhibitors in Cancer Patients		171050		CDC	2007	gefitinib and erlotinib are ABCG2 substrates, while they inhibit ABCG2 at higher concentrations.											
143664	N	atazanavir pharmacokinetics lopinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Ma, Q.  et al. 2007	17324111				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Hispanic Caucasian		CDC GDP info	5243	Hs.489033			Pharmacogenomics    2007    8(3)    227-235	Multidrug resistance 1 polymorphisms and trough concentrations of atazanavir and lopinavir in patients with HIV		171050		CDC	2007												
143666	N	nevaprine pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Penzak, S.  et al. 2007	17352764				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian;European		CDC GDP info	5243	Hs.489033			HIV Med    2007    8(2)    86-91	Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda		171050		CDC	2007	CYP2B6 G516T significantly influenced nevirapine trough concentrations in HIV-infected patients in Uganda. Additional studies in larger patient populations are necessary to further define the potential clinical impact of these preliminary findings.											
143667	N	saquinavir pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		la Porte, C. J.  et al. 2007	17361121				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2007	The Effect of ABCB1 Polymorphism on the Pharmacokinetics of Saquinavir Alone and in Combination with Ritonavir		171050		CDC	2007	ABCB1 polymorphism has no pronounced effect on saquinavir exposure.											
143668		aldosterone blood pressure, arterial renin activity	METABOLIC	MET	Hypertension	7	7q21.1	ABCB1	86970883	87180500		Eap, C. B.  et al. 2007	17372036				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Hypertension    2007	CYP3A5 and ABCB1 Genes Influence Blood Pressure and Response to Treatment, and Their Effect Is Modified by Salt		171050		CDC	2007												
143669		creatinine kidney failure, chronic	METABOLIC	MET		7	7q21.1	ABCB1	86970883	87180500		Zhang, W. X.  et al. 2007	17376299				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Acta Pharmacol Sin    2007    28(4)    579-83	Effect of MDR1 gene polymorphism on progression of end-stage renal disease		171050		CDC	2007	The low expression of P-glycoprotein was not the etiological factor for the kidney disease, but it may contribute to the progression of ESRD and affect the severity. Chinese people do not carry the 1199G>A variant allele. More studies are needed to clarify the cause and interindividual differences in the susceptibility for the risk of ESRD.											
143670		digoxin, serum concentration	PHARMACOGENOMIC	PHARM	Heart Failure	7	7q21.1	ABCB1	86970883	87180500		Kurzawski, M.  et al. 2007	17377214				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacol Rep    2007    59(1)    107-11	Impact of ABCB1 (MDR1) gene polymorphism and P-glycoprotein inhibitors on digoxin serum concentration in congestive heart failure patients		171050		CDC	2007												
143671		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Miura, M.  et al. 2007	17377957				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Biopharm Drug Dispos    2007    28(4)    167-175	Influence of rabeprazole and lansoprazole on the pharmacokinetics of tacrolimus in relation to CYP2C19, CYP3A5 and MDR1 polymorphisms in renal transplant recipients		171050		CDC	2007												
143672	N	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Choi, J. H.  et al. 2007	17391324				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2007	Influence of the CYP3A5 and MDR1 genetic polymorphisms on the pharmacokinetics of tacrolimus in healthy Korean subjects		171050		CDC	2007	s This study shows that the CYP3A5*3 genetic polymorphisms may be associated with the individual difference in tacrolimus pharmacokinetics. An individualized dosage regimen design incorporating such genetic information would help increase clinical efficacy of the drug while reducing adverse drug reactions.											
143673		digoxin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Comets, E.  et al. 2007	17404720				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Eur J Clin Pharmacol    2007    63(5)    437-49	Modelling the influence of MDR1 polymorphism on digoxin pharmacokinetic parameters		171050		CDC	2007	The apparent volume of distribution of digoxin is lower in TT subjects, probably reflecting differences in bioavailability.											
143674		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	7	7q21.1	ABCB1	86970883	87180500		Pillot, G. A.  et al. 2006	17409981				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		171050		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
143675	Y	fluvoxamine pharmacokinetics	PHARMACOGENOMIC	PHARM	Mental Disorders	7	7q21.1	ABCB1	86970883	87180500		Fukui, N.  et al. 2007	17417072				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Ther Drug Monit    2007    29(2)    185-189	Dose-Dependent Effects of the 3435 C>T Genotype of ABCB1 Gene on the Steady-State Plasma Concentration of Fluvoxamine in Psychiatric Patients		171050		CDC	2007	This study suggests that pharmacokinetics of FLV depend on ABCB1 gene polymorphism only at the 200 mg/d dose.											
143677		immunosuppression, chemotherapy induced	PHARMACOGENOMIC	PHARM	Opportunistic Infections	7	7q21.1	ABCB1	86970883	87180500		Erdelyi, D. J.  et al. 2007	17434155				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Cell Immunol    2007	The role of ABC-transporter gene polymorphisms in chemotherapy induced immunosuppression, a retrospective study in childhood acute lymphoblastic leukaemia		171050		CDC	2007												
143678	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Neoplasm Recurrence, Local	7	7q21.1	ABCB1	86970883	87180500		Wu, L.  et al. 2007	17443726				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Surg Oncol    2007	MDR1 gene polymorphisms and risk of recurrence in patients With hepatocellular carcinoma after liver transplantation		171050		CDC	2007	The polymorphism of MDR1 gene may be a valuable molecular marker for HCC recurrence after LT.											
143680		multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	7	7q21.1	ABCB1	86970883	87180500		Buda, G.  et al. 2007	17488488				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Br J Haematol    2007    137(5)    454-6	MDR1 polymorphism influences the outcome of multiple myeloma patients		171050		CDC	2007			dexamethasone doxorubicin vincristine									
143681	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Teh, L. K.  et al. 2007	17489883				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Caucasian;Indian;Asian		CDC GDP info	5243	Hs.489033			J Clin Pharm Ther    2007    32(3)    313-9	Single step PCR for detection of allelic variation of MDR1 gene (P-glycoprotein) among three ethnic groups in Malaysia		171050		CDC	2007	Using a new simple method to investigate the distribution of C3435T, we found that the allele frequency of MDR1 showed variablity between the different ethnic groups within the Malaysian population.											
143682		imatinib toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Gastrointestinal Stromal Tumors	7	7q21.1	ABCB1	86970883	87180500		Gurney, H.  et al. 2007	17495881				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2007	Imatinib Disposition and ABCB1 (MDR1, P-Glycoprotein) Genotype		171050		CDC	2007												
143683	N	arthritis Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Fischer, S.  et al. 2007	17505995				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	European		CDC GDP info	5243	Hs.489033			Scand J Gastroenterol    2007    42(6)    726-33	ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgeryin Hungarian patients with inflammatory bowel diseases		171050		CDC	2007	MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery.		infliximab									
143684	N	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Cote, J. F.  et al. 2007	17510208				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Cancer Res    2007	UGT1A1 Polymorphism Can Predict Hematologic Toxicity in Patients Treated with Irinotecan		171050		CDC	2007	This study supports the clinical utility of identification of UGT1A1 promoter polymorphisms before LV5FU2 + CPT-11 treatment to predict early hematologic toxicity. The -3156G>A polymorphism seems to be a better predictor than the UGT1A1 (TA)(6)TAA>(TA)(7)TAA polymorphism.											
143685	Y	indinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	ABCB1	86970883	87180500		Solas, C.  et al. 2007	17517050	MDR1 C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2007	Minimal effect of MDR1 and CYP3A5 genetic polymorphisms on the pharmacokinetics of indinavir in HIV-infected patients		171050		CDC	2007	s The MDR1 C3435T genotype affects the absorption constant of indinavir suggesting that P-gp may be implicated in its pharmacokinetic variability. Through its inhibition of CYP3A and P-gp, ritonavir could attenuate the pharmacokinetic variability linked to genetic differences, reducing significantly the interindividual variability of indinavir. However, genotyping MDR1 and/or CYP3A5 to optimize protease inhibitor boosted regimens does not seem clinically relevant.											
143686		cyclosporine absorption	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Foote, C. J.  et al. 2007	17519790				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplantation    2007    83(10)    1380-1384	Polymorphisms of Multidrug Resistance Gene (MDR1) and Cyclosporine Absorption in De Novo Renal Transplant Patients		171050		CDC	2007	MDR1 polymorphisms are associated with differences in CsA exposure only in the first posttransplant week.											
143688	Y	epilepsy phentoin levels	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Mohammed Ebid, A. H.  et al. 2007	17529887				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Ther Drug Monit    2007    29(3)    305-312	Therapeutic Drug Monitoring and Clinical Outcomes in Epileptic Egyptian Patients		171050		CDC	2007	because most of the antiepileptic drugs are multidrug resistant gene substrates, the ABCB1 is thus an important candidate gene for potentially influencing the response to antiepileptic drugs.											
143689	Y	irinotecan pharmacokinetics irinotecan toxicity lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neutropenia|Disease Progression|Diarrhea	7	7q21.1	ABCB1	86970883	87180500		Han, J. Y.  et al. 2007	17534875				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Cancer    2007	Associations of ABCB1, ABCC2, and ABCG2 polymorphisms with irinotecan-pharmacokinetics and clinical outcome in patients with advanced non-small cell lung cancer		171050		CDC	2007			Irinotecan									
143690		risperidone	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Leon, J.  et al. 2007	17541883				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacopsychiatry    2007    40(3)    93-102	A Study of Genetic (CYP2D6 and ABCB1) and Environmental (Drug Inhibitors and Inducers) Variables That May Influence Plasma Risperidone Levels		171050		CDC	2007												
143691	Y	nasopharyngeal cancer	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Wang, Z. Y.  et al. 2007	17545060	ABCB1  G2677T and C3435T			ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(5)    580-3	Relationship between radiosensitivity of nasopharyngeal carcinoma and MDR1 gene polymorphism.		171050		CDC	2007	The MDR1 G2677T and C3435T polymorphisms may help predict the response to radiotherapy in NPC patients.		radiation									
143692		docetaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Lewis, L. D.  et al. 2007	17545536				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Clin Cancer Res    2007    13(11)    3302-11	A Comparison of the Pharmacokinetics and Pharmacodynamics of Docetaxel between African-American and Caucasian Cancer Patients		171050		CDC	2007	Docetaxel clearance and its associated myelosuppression were similar in African-American and Caucasian cancer patients.											
143694		osteonecrosis, steroid induced	PHARMACOGENOMIC	PHARM	Femur Head Necrosis	7	7q21.1	ABCB1	86970883	87180500		Fujioka, M.  et al. 2007	17548929				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Calcium    2007    17(6)    894-900	Genetic analysis for prevention of steroid-induced osteonecrosis of the femoral head.		171050		CDC	2007												
143696		esophageal cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Esophageal Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Okuno, T.  et al. 2007	17551301				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Am J Clin Oncol    2007    30(3)    252-7	Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese		171050		CDC	2007	The prognostic index may allow predictions of the clinical outcome of a 5-FU/CDDP-based CRT in stage II/III ESCC patients.		5-flurouracil cisplatin physical activity radiation									
143697		kidney transplant	RENAL	REN		7	7q21.1	ABCB1	86970883	87180500		Kotrych, K.  et al. 2007	17556798				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacol Rep    2007    59(2)    199-205	Polymorphism in the P-glycoprotein drug transporter MDR1 gene in renal transplant patients treated with cyclosporin A in a Polish population		171050		CDC	2007												
143698	Y	prolactin	METABOLIC	MET	Schizophrenia	7	7q21.1	ABCB1	86970883	87180500		Yasui-Furukori, N.  et al. 2007	17559997				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Prog Neuropsychopharmacol Biol Psychiatry    2007	Association between major Multidrug Resistance 1 (MDR1) gene polymorphisms and plasma concentration of prolactin during risperidone treatment in schizophrenic patients		171050		CDC	2007												
143700	N	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Li, D.  et al. 2007	17568575				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Chim Acta    2007	Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus		171050		CDC	2007	The IL-10 G-1082A and CYP3A5()3 polymorphisms may influence the interindividual variability of tacrolimus pharmacokinetics in Chinese liver transplant patients. This finding provided a new interpretation for the variable immunosuprressant disposition after transplantation.											
143701	Y	leukemia	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Hattori, H.  et al. 2007	17568669				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Leuk Res    2007	Regulatory polymorphisms of multidrug resistance 1 (MDR1) gene are associated with the development of childhood acute lymphoblastic leukemia		171050		CDC	2007												
143702	P		NORMALVARIATION	NV		7	7q21.1	ABCB1	86970883	87180500		Vicente, J.  et al. 2007	17577681				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian;European;Indian;Asian		CDC GDP info	5243	Hs.489033			Mol Biol Rep    2007	Polymorphism C3435T of the MDR1 gene in Central Americans and Spaniards		171050		CDC	2007												
143704		colchicine response	PHARMACOGENOMIC	PHARM	Familial Mediterranean Fever|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Tufan, A.  et al. 2007	17610314				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Rheumatol    2007    34(7)    1540-4	Association of Drug Transporter Gene ABCB1 (MDR1) 3435C to T Polymorphism with Colchicine Response in Familial Mediterranean Fever		171050		CDC	2007	Our study revealed an association between 3435C to T polymorphism and colchicine response in patients with FMF.											
143705	Y	intrahepatic cholestatis of pregnancy	REPRODUCTION	REP	Cholestasis, Intrahepatic|Pregnancy Complications	7	7q21.1	ABCB4	86869296	86942955		Floreani, A.  et al. 2006	16696816				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2	Italian		CDC GDP info	5244	Hs.287827			Aliment Pharmacol Ther    2006    23(11)    1649-53	Intrahepatic cholestasis of pregnancy		171060		CDC	2006	These three novel mutations add further information on the involvement of the MDR3 gene in intrahepatic cholestasis of pregnancy.											
143707		epilepsy, temporal lobe	PHARMACOGENOMIC	PHARM	Epilepsy	7	7q21.1	ABCB4	86869296	86942955		Leschziner, G.  et al. 2006	16857572				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2			CDC GDP info	5244	Hs.287827			Lancet Neurol    2006    5(8)    668-76	Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response		171060		CDC	2006			antiepileptic drug therapy									
143708	Y	cholestasis, drug-induced hepatotoxicity	PHARMACOGENOMIC	PHARM	Cholestasis|Liver Diseases|Genetic Predisposition to Disease	7	7q21.1	ABCB4	86869296	86942955		Lang, C.  et al. 2007	17264802				ATP-binding cassette, sub-family B (MDR/TAP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000443.2	Caucasian		CDC GDP info	5244	Hs.287827			Pharmacogenet Genomics    2007    17(1)    47-60	Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury		171060		CDC	2007	In summary, our data support a role of ABCB11 and ABCB4 mutations and polymorphisms in drug-induced cholestasis. Genotyping of selected patients with acquired cholestasis might help to identify individuals with a genetic predisposition.											
143709		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	16	16p13.1	ABCC1	15950934	16143774		Nicolis, E.  et al. 2006	16464259				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDP info	4363	Hs.391464			BMC Med Genet    2006    7(1)    7	The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic		158343		CDC	2006	We identified a novel polymorphism in the 5\UTR of MRP1 gene that provides multiple alleles in a gene relevant for multidrug resistance as well as for CF, determining that this region is transcriptionally active and that this activity does not appear to be influenced by AZM treatment.											
143710		ovarian cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Ovarian Neoplasms	16	16p13.1	ABCC1	15950934	16143774		Obata, H.  et al. 2006	16821592				ATP-binding cassette, sub-family C (CFTR/MRP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004996.2			CDC GDP info	4363	Hs.391464			Anticancer Res    2006    26(3B)    2227-32	Association between single nucleotide polymorphisms of drug resistance-associated genes and response to chemotherapy in advanced ovarian cancer		158343		CDC	2006	Analysis of drug resistance gene polymorphism appears to be an indicator of the response to chemotherapy in advanced ovarian cancer.		chemotherapy									
143711		9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q24	ABCC2	101532492	101601571		Zamboni, W. C.  et al. 2006	16505951				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Invest New Drugs    2006	Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypes		601107		CDC	2006	These findings suggest that inter-individual variability in 9AC disposition, but not 9NC, may be influenced, in part, by ABCG2 genotype. In contrast, there was no evidence for a relationship between ABCG2 and the disposition of 9NC, or for relationships between ABCB1 and ABCC2 genotypes and the disposition of 9NC or 9AC.											
143712	N	simvastatin pharmacokinetics talinol pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	ABCC2	101532492	101601571			16542205				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Br J Clin Pharmacol    2006    61(4)    440-50	Simvastatin does not influence the intestinal P-glycoprotein and MPR2, and the disposition of talinolol after chronic medication in healthy subjects genotyped for the ABCB1, ABCC2 and SLCO1B1 polymorphisms		601107		CDC	2006	Simvastatin does not influence the intestinal expression of P-gp and MRP2 in man. There was no pharmacokinetic interaction between talinolol and simvastatin during their chronic co-administration to healthy subjects.											
143713		pruritis	OTHER	OTH	Liver Cirrhosis, Biliary|Pruritus	10	10q24	ABCC2	101532492	101601571		Floreani, A.  et al. 2006	16628674				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Hepatology    2006    43(5)    1152-1154	A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus		601107		CDC	2006												
143714			NORMALVARIATION	NV		10	10q24	ABCC2	101532492	101601571		Bosch, T. M.  et al. 2006	16771603				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1	Caucasian		CDC GDP info	1244	Hs.368243			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		601107		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
143715		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	10	10q24	ABCC2	101532492	101601571		Anderson, P. L.  et al. 2006	16791115				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		601107		CDC	2006												
143716		ovarian cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Ovarian Neoplasms	10	10q24	ABCC2	101532492	101601571		Obata, H.  et al. 2006	16821592				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Anticancer Res    2006    26(3B)    2227-32	Association between single nucleotide polymorphisms of drug resistance-associated genes and response to chemotherapy in advanced ovarian cancer		601107		CDC	2006	Analysis of drug resistance gene polymorphism appears to be an indicator of the response to chemotherapy in advanced ovarian cancer.		chemotherapy									
143717	Y	pravastatin pharmcokinetics	PHARMACOGENOMIC	PHARM		10	10q24	ABCC2	101532492	101601571		Niemi, M.  et al. 2006	17047488				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Pharmacogenet Genomics    2006    16(11)    801-808	Association of genetic polymorphism in ABCC2 with hepatic multidrug resistance-associated protein 2 expression and pravastatin pharmacokinetics		601107		CDC	2006	These results support the idea that the ABCC2 c.											
143718	Y	mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM	Kidney Diseases	10	10q24	ABCC2	101532492	101601571		Naesens, M.  et al. 2006	17060857				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Transplantation    2006    82(8)    1074-1084	Multidrug Resistance Protein 2 Genetic Polymorphisms Influence Mycophenolic Acid Exposure in Renal Allograft Recipients		601107		CDC	2006	The MRP2 C-24T and C-3972T polymorphisms protect renal transplant recipients from a decrease in MPA exposure associated with mild liver dysfunction. Furthermore, this study suggests that the C-24T SNP is associated with$$$ a lower oral clearance of MPA in steady-state conditions.											
143719	Y	kidney disease	RENAL	REN	HIV Infections|Fanconi Syndrome|Genetic Predisposition to Disease	10	10q24	ABCC2	101532492	101601571		Izzedine, H.  et al. 2006	17083032				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			J Infect Dis    2006    194(11)    1481-91	Association between ABCC2 Gene Haplotypes and Tenofovir-Induced Proximal Tubulopathy		601107		CDC	2006	ABCC2 haplotypes are associated with rPT induced by TDF in HIV-1-infected patients.											
143720		leukemia methotrexate pharmacokinetics	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute	10	10q24	ABCC2	101532492	101601571		Rau, T.  et al. 2006	17112803				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Clin Pharmacol Ther    2006    80(5)    468-476	High-dose methotrexate in pediatric acute lymphoblastic leukemia		601107		CDC	2006												
143722	Y	hepatotoxicity, diclofenac-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Genetic Predisposition to Disease	10	10q24	ABCC2	101532492	101601571		Daly, A. K.  et al. 2007	17241877				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Gastroenterology    2007    132(1)    272-81	Genetic Susceptibility to Diclofenac-Induced Hepatotoxicity		601107		CDC	2007	Allelic variants of UGT2B7, CYP2C8, and ABCC2, which may predispose to the formation and accumulation of reactive diclofenac metabolites are associated with diclofenac hepatotoxicity.											
143723	Y	hepatitis, toxic	OTHER	OTH	Hepatitis, Toxic|Genetic Predisposition to Disease	10	10q24	ABCC2	101532492	101601571		Choi, J. H.  et al. 2007	17502832				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1	Korean		CDC GDP info	1244	Hs.368243			Pharmacogenet Genomics    2007    17(6)    403-415	MRP2 haplotypes confer differential susceptibility to toxic liver injury		601107		CDC	2007	These results suggest that genetic variations of MRP2 are an important predisposing factor for herbal-induced or drug-induced toxic liver injuries.											
143724	Y	irinotecan pharmacokinetics irinotecan toxicity lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neutropenia|Disease Progression|Diarrhea	10	10q24	ABCC2	101532492	101601571		Han, J. Y.  et al. 2007	17534875				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1			CDC GDP info	1244	Hs.368243			Cancer    2007	Associations of ABCB1, ABCC2, and ABCG2 polymorphisms with irinotecan-pharmacokinetics and clinical outcome in patients with advanced non-small cell lung cancer		601107		CDC	2007			Irinotecan									
143725	P		NORMALVARIATION	NV		17	17q22	ABCC3	46067226	46124062		Fukushima-Uesaka, H.  et al. 2007	17495421				ATP-binding cassette, sub-family C (CFTR/MRP), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF085692			CDC GDP info	8714	Hs.463421			Drug Metab Pharmacokinet    2007    22(2)    129-35	Genetic Variations of the ABC Transporter Gene ABCC3 in a Japanese Population		604323		CDC	2007												
143727		kidney disease	RENAL	REN	HIV Infections|Fanconi Syndrome|Genetic Predisposition to Disease	13	13q32	ABCC4	94470089	94751684		Izzedine, H.  et al. 2006	17083032				ATP-binding cassette, sub-family C (CFTR/MRP), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005845			CDC GDP info	10257	Hs.508423			J Infect Dis    2006    194(11)    1481-91	Association between ABCC2 Gene Haplotypes and Tenofovir-Induced Proximal Tubulopathy		605250		CDC	2006	ABCC2 haplotypes are associated with rPT induced by TDF in HIV-1-infected patients.											
143729	Y	pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum|Skin Diseases	16	16p13.1	ABCC6	16150922	16224838		Pfendner, E. G.  et al. 2007	17617515				ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2			CDC GDP info	368	Hs.442182			J Med Genet    2007	Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum		603234		CDC	2007	This study emphasizes the principal role of ABCC6 mutations in the pathogenesis of PXE, while the reasons for phenotypic variability remain to be explored.											
143730		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Yokoi, N.  et al. 2006	16873704				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2	Japanese;European		CDC GDP info	6833	Hs.54470			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		600509		CDC	2006												
143731	Y	diabetes, type 2	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	11	11p15.1	ABCC8	17371007	17455025		Zhang, H.  et al. 2006	17118480				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDP info	6833	Hs.54470			Diabetes Res Clin Pract    2006	Association of sulfonylurea receptor 1 genotype with therapeutic response to gliclazide in type 2 diabetes		600509		CDC	2006			gliclazide									
143732		hyperglycemia insulin	METABOLIC	MET	Diabetic Angiopathies|Diabetes Mellitus, Type 2|Hypoglycemia	11	11p15.1	ABCC8	17371007	17455025		Dworacka, M.  et al. 2007	17207885				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDP info	6833	Hs.54470			Diabetes Res Clin Pract    2007	Impact of the sulfonylurea receptor 1 (SUR1) exon 16-3c/t polymorphism on acute hyperglycaemia in type 2 diabetic patients		600509		CDC	2007												
143734		insulin	METABOLIC	MET	Persistent Hyperinsulinemia Hypoglycemia of Infancy	11	11p15.1	ABCC8	17371007	17455025		Greer, R. M.  et al. 2007	17378627				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDP info	6833	Hs.54470			Pediatr Dev Pathol    2007    10(1)    25-34	Genotype-phenotype associations in patients with severe hyperinsulinism of infancy		600509		CDC	2007												
143735	N	beta-cell function body mass cholesterol, HDL diabetic complications stroke	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Diabetes Complications|Chronic Disease	11	11p15.1	ABCC8	17371007	17455025		Stefanski, A.  et al. 2007	17516295				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDP info	6833	Hs.54470			Exp Clin Endocrinol Diabetes    2007    115(5)    317-21	The Common C49620T Polymorphism in the Sulfonylurea Receptor Gene (ABCC8), Pancreatic Beta Cell Function and Long-Term Diabetic Complications in Obese Patients with Long-Lasting Type 2 Diabetes Mellitus		600509		CDC	2007	There is no association between the ABCC8 polymorphism gene and the beta-cell function or the prevalence of chronic diabetic complications in obese patients with long-term T2DM, except for brain stroke. The results might suggest that the homozygous CC subjects are at lower risk of the complication, but additional studies are warranted to test this finding.											
143736	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12p12.1	ABCC9	21841590	21985603		Minoretti, P.  et al. 2006	16563363				ATP-binding cassette, sub-family C (CFTR/MRP), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020297	Italian		CDC GDP info	10060	Hs.446050			Clin Chim Acta    2006	A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction		601439		CDC	2006	Taken together, our results provide the first important evidence that the newly discovered 734Ile allele in ABCC9 might influence susceptibility to precocious MI in our population.											
143737	P	adrenoleukodystrophy	OTHER	OTH		X	Xq28	ABCD1	152643529	152663374		Ping, L. L.  et al. 2007	17504626				ATP-binding cassette, sub-family D (ALD), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC025358			CDC GDP info	215	Hs.159546			Zhonghua Er Ke Za Zhi    2007    45(3)    203-7	Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy		300371		CDC	2007	The phenotype distribution, initial symptom and gene mutation spectrum of Chinese patients may not be completely consistent with those in other countries.											
143738		aggression suicide	PSYCH	PSY		21	21q22.3	ABCG1	42492867	42590423		Gietl, A.  et al. 2006	17187964				ATP-binding cassette, sub-family G (WHITE), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207630			CDC GDP info	9619	Hs.124649			Eur Neuropsychopharmacol    2006	ABCG1 gene variants in suicidal behavior and aggression-related traits		603076		CDC	2006												
143739		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q22.3	ABCG1	42492867	42590423		Wollmer, M. A.  et al. 2007	17387528				ATP-binding cassette, sub-family G (WHITE), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207630	European		CDC GDP info	9619	Hs.124649			Neurogenetics    2007	Association study of cholesterol-related genes in Alzheimer's disease		603076		CDC	2007	genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.											
143741	Y	rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q22	ABCG2	89230439	89371498		Zhang, W.  et al. 2006	16784736				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Clin Chim Acta    2006	Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males		603756		CDC	2006	The BCRP 421C>A polymorphism may play an important role in the pharmacokinetics of rosuvastatin in healthy Chinese males after the exclusion of impact of SLCO1B1 and CYP2C9 genetic polymorphism.											
143742		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	4	4q22	ABCG2	89230439	89371498		Anderson, P. L.  et al. 2006	16791115				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		603756		CDC	2006												
143743		gefitinib toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Diarrhea	4	4q22	ABCG2	89230439	89371498		Cusatis, G.  et al. 2006	17148776				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			J Natl Cancer Inst    2006    98(23)    1739-42	Pharmacogenetics of ABCG2 and Adverse Reactions to Gefitinib		603756		CDC	2006												
143744	P		NORMALVARIATION	NV		4	4q22	ABCG2	89230439	89371498		Lee, S. S.  et al. 2007	17237154				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2	Chinese;Korean;Vietnamese;Asian		CDC GDP info	9429	Hs.480218			Drug Metab Dispos    2007	Identification and Functional Assessment of BCRP Polymorphisms in a Korean Population		603756		CDC	2007												
143747		pitavastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q22	ABCG2	89230439	89371498		Ieiri, I.  et al. 2007	17460607				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Clin Pharmacol Ther    2007	SLCO1B1 (OATP1B1, an Uptake Transporter) and ABCG2 (BCRP, an Efflux Transporter) Variant Alleles and Pharmacokinetics of Pitavastatin in Healthy Volunteers		603756		CDC	2007												
143748	Y	lymphoma	CANCER	CAN	Lymphoma, B-Cell|Genetic Predisposition to Disease	4	4q22	ABCG2	89230439	89371498		Hu, L. L.  et al. 2007	17494054				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Carcinogenesis    2007	BCRP gene polymorphisms are associated with susceptibility and survival of diffuse large B-cell lymphoma		603756		CDC	2007												
143749	N	arthritis Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4q22	ABCG2	89230439	89371498		Fischer, S.  et al. 2007	17505995				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2	European		CDC GDP info	9429	Hs.480218			Scand J Gastroenterol    2007    42(6)    726-33	ATP-binding cassette transporter ABCG2 (BCRP) and ABCB1 (MDR1) variants are not associated with disease susceptibility, disease phenotype response to medical therapy or need for surgeryin Hungarian patients with inflammatory bowel diseases		603756		CDC	2007	MDR1 and ABCG2 SNPs were not associated with disease susceptibility or disease phenotype in Hungarian patients, and variant alleles did not predict the response to medical therapy or the need for surgery.		infliximab									
143750	Y	irinotecan pharmacokinetics irinotecan toxicity lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neutropenia|Disease Progression|Diarrhea	4	4q22	ABCG2	89230439	89371498		Han, J. Y.  et al. 2007	17534875				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Cancer    2007	Associations of ABCB1, ABCC2, and ABCG2 polymorphisms with irinotecan-pharmacokinetics and clinical outcome in patients with advanced non-small cell lung cancer		603756		CDC	2007			Irinotecan									
143751		atherosclerosis, coronary lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	4	4q22	ABCG2	89230439	89371498		Luke, M. M.  et al. 2007	17569884				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Arterioscler Thromb Vasc Biol    2007	A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease		603756		CDC	2007	The LPA I4399M SNP is associated with$$$ severe CAD and plasma lipoprotein(a) levels.											
143753	Y	cholesterol cholesterol, LDL lipids lipoprotein	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Viturro, E.  et al. 2006	16980816				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDP info	64240	Hs.132992			Genet Med    2006    8(9)    594-9	Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children		605459		CDC	2006	Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness. This highly significant gene-nutrient interaction could explain the great individual differences in the plasma lipid response to cholesterol and fat intake.		diet									
143754		cholesterol, HDL triglycerides	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Acalovschi, M.  et al. 2006	17098593				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDP info	64240	Hs.132992			Eur J Intern Med    2006    17(7)    490-4	Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones		605459		CDC	2006	The significantly different plasma lipid levels in siblings with gallstones versus controls, as well as the correlation of plasma lipids in affected sibling pairs, confirm the genetic influence in gallstone disease.											
143755	N	gallstone disease	METABOLIC	MET	Gallstones	2	2p21	ABCG5	43893114	43919508		Wang, Y.  et al. 2007	17612515				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDP info	64240	Hs.132992			Clin Chim Acta    2007	ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males		605459		CDC	2007	These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males.											
143756	Y	cholesterol cholesterol, LDL lipids lipoprotein	METABOLIC	MET		2	2p21	ABCG8	43919606	43959109		Viturro, E.  et al. 2006	16980816				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDP info	64241	Hs.413931			Genet Med    2006    8(9)    594-9	Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children		605460		CDC	2006	Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness. This highly significant gene-nutrient interaction could explain the great individual differences in the plasma lipid response to cholesterol and fat intake.		diet									
143757		cholesterol, HDL triglycerides	METABOLIC	MET		2	2p21	ABCG8	43919606	43959109		Acalovschi, M.  et al. 2006	17098593				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDP info	64241	Hs.413931			Eur J Intern Med    2006    17(7)    490-4	Are plasma lipid levels related to ABCG5/ABCG8 polymorphisms? A preliminary study in siblings with gallstones		605460		CDC	2006	The significantly different plasma lipid levels in siblings with gallstones versus controls, as well as the correlation of plasma lipids in affected sibling pairs, confirm the genetic influence in gallstone disease.											
143758	Y	gallstone disease	METABOLIC	MET	Gallstones	2	2p21	ABCG8	43919606	43959109		Wang, Y.  et al. 2007	17612515				ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022437.2			CDC GDP info	64241	Hs.413931			Clin Chim Acta    2007	ATP binding cassette G8 T400K polymorphism may affect the risk of gallstone disease among Chinese males		605460		CDC	2007	These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males.											
143759			NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Yan, L.  et al. 2005	15783300				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2		China	CDC GDP info	28	Hs.561993			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		110300		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
143761	N	HIV tuberculosis	INFECTION	INF	Tuberculosis|AIDS-Related Opportunistic Infections	9	9q34.1-q34.2	ABO	135120383	135140451		Ukaejiofo, E. O.  et al. 2006	16722361				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2		Nigeria	CDC GDP info	28	Hs.561993			West Afr J Med    2006    25(1)    61-4	Association between ABO, Rhesus blood group systems and haemoglobin genotype among confirmed HIV/AIDS-TB co-infected patients in Enugu Urban, Nigeria		110300		CDC	2006	We conclude that HIV I & II/AIDs with TB co-infection among Nigerians so far studied appear to show no association in the distribution of ABO, Rhesus blood group and Hb-genotype prevalence. Hence they cannot be said to have either protective nor predisposing characteristics.											
143762		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Migot-Nabias, F.  et al. 2006	16859949				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	Senegalese	Senegal	CDC GDP info	28	Hs.561993			Microbes Infect    2006	Red blood cell polymorphisms in relation to Plasmodium falciparum asymptomatic parasite densities and morbidity in Senegal		110300		CDC	2006												
143764			NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Tripathy, V.  et al. 2006	17036929				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	Asian	Tibet	CDC GDP info	28	Hs.561993			Hum Biol    2006    78(2)    229-33	ABO and Rh D polymorphism among Tibetans in India		110300		CDC	2006												
143765	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Biron-Andreani, C.  et al. 2006	17107352				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		110300		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
143766		von Willebrand's factor levels	HEMATOLOGICAL	HEM		9	9q34.1-q34.2	ABO	135120383	135140451		Davies, J. A.  et al. 2006	17119126				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Blood    2006	The effect of von Willebrand factor Y/C1584 on in vivo protein level and function, and interaction with ABO blood group		110300		CDC	2006												
143767	P		NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Llop, R. = E et al. 2006	17130965				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2	South American		CDC GDP info	28	Hs.561993			Rev Med Chil    2006    134(7)    833-40	Molecular characterization of ABO*O alleles at the ABO group locus in three chilean populations		110300		CDC	2006	These results are concordant with the reported higher frequency of allele O1variant in South American aboriginal populations.											
143770		malaria	INFECTION	INF	Parasitemia|Malaria|Genetic Predisposition to Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Nkuo-Akenji, T. K.  et al. 2004	17298125				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Afr J Health Sci    2004    11(3-4)    93-7	Effects of ABO/Rh blood groups, G-6-P-D enzyme activity and haemoglobin genotypes on malaria parasitaemia and parasite density		110300		CDC	2004												
143771	P		NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Yang, B. C.  et al. 2007	17311872				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Ann Clin Lab Sci    2007    37(1)    71-4	Molecular polymorphism of o alleles in the chinese han population		110300		CDC	2007												
143772		von Willebrand factor levels	HEMATOLOGICAL	HEM	Venous Thrombosis	9	9q34.1-q34.2	ABO	135120383	135140451		Morelli, V. M.  et al. 2007	17393014				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Thromb Haemost    2007    97(4)    534-41	ABO blood group genotypes, plasma von Willebrand factor levels and loading of von Willebrand factor with A and B antigens		110300		CDC	2007												
143773		graft-versus-host disease	IMMUNE	IMM	Leukemia|Blood Group Incompatibility|Graft vs Host Disease	9	9q34.1-q34.2	ABO	135120383	135140451		Remberger, M.  et al. 2007	17531777				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Biol Blood Marrow Transplant    2007    13(6)    675-682	Major ABO Blood Group Mismatch Increases the Risk for Graft Failure after Unrelated Donor Hematopoietic Stem Cell Transplantation		110300		CDC	2007												
143775		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	ACACA	32516039	32841015		Sinilnikova, O. M. et al.  et al. 2007	17372234				Acetyl-Coenzyme A carboxylase alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198834.1	European		CDC GDP info	31	Hs.160556			Cancer Epidemiol Biomarkers Prev    2007    16(3)    409-15	Haplotype-Based Analysis of Common Variation in the Acetyl-CoA Carboxylase {alpha} Gene and Breast Cancer Risk		200350		CDC	2007												
143776		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q25	ACAD8	133628643	133640956		Wollmer, M. A.  et al. 2007	17387528				Acyl-Coenzyme A dehydrogenase family, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209538	European		CDC GDP info	27034	Hs.14791			Neurogenetics    2007	Association study of cholesterol-related genes in Alzheimer's disease		604773		CDC	2007	genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.											
143777	P		NORMALVARIATION	NV	Lipid Metabolism, Inborn Errors	1	1p31	ACADM	75962869	76001771		Giroux, S.  et al. 2007	17539907				Dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000016.2	Canadian;European;French;Quebec		CDC GDP info	34	Hs.445040			Clin Genet    2007    71(6)    569-575	Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR		607008		CDC	2007												
143778	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	10	10q26.13	ACADSB	124758418	124807796		Kamide, K.  et al. 2007	17143180				Acyl-Coenzyme A dehydrogenase, short/branched chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001609			CDC GDP info	36	Hs.81934			J Hypertens    2007    25(1)    103-10	Association of genetic polymorphisms of ACADSB and COMT with human hypertension		600301		CDC	2007	Our study suggests the possible involvement of genetic polymorphisms in ACADSB and COMT in essential hypertension in the Japanese population.											
143779		myelopathy, HTLV-1 associated	IMMUNE	IMM	Paraparesis, Tropical Spastic	15	15q26.1	ACAN	87147677	87219589			16402214				aggrecan				CDC GDP info	176	Hs.654507			Immunogenetics    2006        1-9	Genetic variability in the extracellular matrix protein as a determinant of risk for developing HTLV-I-associated neurological disease				CDC	2006												
143781		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q12	ACCN1	28364218	29507938		Stone, J. L.  et al. 2007	17376794				Amiloride-sensitive cation channel 1, neuronal (degenerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183377	Caucasian		CDC GDP info	40	Hs.368417			Hum Mol Genet    2007	High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17		601784		CDC	2007												
143782	Y	multiple sclerosis	IMMUNE	IMM		17	17q12	ACCN1	28364218	29507938		Bernardinelli, L.  et al. 2007	17534430				Amiloride-sensitive cation channel 1, neuronal (degenerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183377			CDC GDP info	40	Hs.368417			PLoS ONE    2007    2    e480	Association between the ACCN1 Gene and Multiple Sclerosis in Central East Sardinia		601784		CDC	2007												
143783	N	glucocorticoid deficiency triple A syndrome	METABOLIC	MET	Esophageal Achalasia|Metabolism, Inborn Errors|Adrenal Insufficiency|Syndrome	16	16q22.1	ACD	66248933	66252214		Keegan, C. E.  et al. 2007	17466001				Adrenocortical dysplasia homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001082486	European		CDC GDP info	65057	Hs.78019			Clin Endocrinol (Oxf)    2007	Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes		609377		CDC	2007	No mutations were identified in ACD in this collection of patients with ACTH resistance phenotypes.											
143785		left ventricular growth	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935			16416313				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Mol Med    2006        1-6	Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth		106180		CDC	2006												
143787		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension|Disease Susceptibility	17	17q23	ACE	58908165	58952935		Gao, X.  et al. 2006	16443328				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Neurosci Lett    2006	Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke		106180		CDC	2006			alcohol smoking (tobacco)									
143788		blood pressure, arterial diuretic effects heart rate hypokalemia	PHARMACOGENOMIC	PHARM		17	17q23	ACE	58908165	58952935		Vormfelde, S. V.  et al. 2006	16450155				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Eur J Clin Pharmacol    2006        1-7	Hydrochlorothiazide efficacy and polymorphisms in ACE, ADD1 and GNB3 in healthy, male volunteers		106180		CDC	2006	The effects of genetic polymorphisms were stronger with the higher diuretic dose.		hydrochlorothiazide									
143789		Alzheimer's disease vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Wang, H. K.  et al. 2006	16465461				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Neural Transm    2006	Apolipoprotein E, angiotensin-converting enzyme and kallikrein gene polymorphisms and the risk of Alzheimer's disease and vascular dementia		106180		CDC	2006												
143790		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Hypotension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Blanchard, B. E.  et al. 2006	16468060				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Eur J Appl Physiol    2006        1-8	RAAS polymorphisms alter the acute blood pressure response to aerobic exercise among men with hypertension		106180		CDC	2006			physical activity									
143791	N	left ventricular function left ventricular mass	CARDIOVASCULAR	CARD	Ventricular Dysfunction, Left|Hypertension	17	17q23	ACE	58908165	58952935		Olcay, A.  et al. 2006	16485730				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Turkish		CDC GDP info	1636	Hs.298469			Acta Cardiol    2006    61(1)    29-34	Aldosterone synthase -344C/T and angiotensin-converting enzyme I/D polymorphisms in Turkish hypertensive patients with normal coronary arteries		106180		CDC	2006	Neither ACE I/D nor CYP11B2 -344C/T polymorphisms were useful to predict left ventricular mass, function or dilatation in our hypertensive patients with normal coronary arteries.											
143792		atherosclerosis, generalized blood pressure, arterial cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Atherosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Burdon, K. P.  et al. 2006	16492203				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	African American;European		CDC GDP info	1636	Hs.298469			Diabet Med    2006    23(3)    228-34	Association analysis of genes in the renin-angiotensin system with subclinical cardiovascular disease in families with Type 2 diabetes mellitus		106180		CDC	2006	Genetic variation of the RAS and NOS3 genes do not appear to strongly influence subclinical cardiovascular disease or blood pressure in this diabetic population.											
143793		dyslipidemia hypertension	METABOLIC	MET	Hypertension|Dyslipidemias	17	17q23	ACE	58908165	58952935		Nowakowska, A.  et al. 2005	16496609			promoter	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Ann Acad Med Stetin    2005    51(1)    95-105	The influence of I/D polymorphism of the angiotensin I converting enzyme (ACE) gene and 4G/5G polymorphism of plasminogen activator inhibitor (PAI-1) gene promoter on the haemostatic system in patients with essential hypertension and dyslipidemia		106180		CDC	2005	The results led to the following											
143794	Y	anemia C-reactive protein	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic|Anemia	17	17q23	ACE	58908165	58952935			16538877				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Perit Dial Int    2006    26(1)    64-8	The effect of proinflammatory cytokine gene and angiotensin-converting enzyme polymorphisms on erythropoietin requirements in patients on continuous ambulatory peritoneal dialysis		106180		CDC	2006	ACE insertion/deletion polymorphism may determine rHuEPO responsiveness in CAPD patients and should be considered in relative rHuEPO resistance.		erythropoietin									
143795	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q23	ACE	58908165	58952935			16544732	ACE (Del)			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	French;Israeli		CDC GDP info	1636	Hs.298469			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		106180		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
143796		body mass muscle testing	METABOLIC	MET	Pulmonary Disease, Chronic Obstructive	17	17q23	ACE	58908165	58952935		Hopkinson, N. S.  et al. 2006	16600946				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Am J Clin Nutr    2006    83(4)    912-7	+9/+9 Homozygosity of the bradykinin receptor gene polymorphism is associated with reduced fat-free mass in chronic obstructive pulmonary disease		106180		CDC	2006	The genotype associated with reduced BK(2)R expression is associated with$$$ reduced fat-free mass and quadriceps strength in COPD. However, alterations in the activity at the BK(2)R do not seem to account for the previously identified association of quadriceps strength with ACE genotype.											
143797	N	dementia, vascular	PSYCH	PSY	Dementia, Vascular	17	17q23	ACE	58908165	58952935		Kim, Y.  et al. 2006	16603315				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Neurosci Lett    2006	Sequence variants of ACE, AGT, AT1R, and PAI-1 as genetic risk factors for vascular dementia		106180		CDC	2006												
143798		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	17	17q23	ACE	58908165	58952935		Wijpkema, J. S.  et al. 2006	16609364				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Pharmacogenet Genomics    2006    16(5)    331-337	Restenosis after percutaneous coronary intervention is associated with the angiotensin-II type-1 receptor 1166A/C polymorphism but not with polymorphisms of angiotensin-converting enzyme, angiotensin-II receptor, angiotensinogen or heme oxygenase-1		106180		CDC	2006	We could only establish a role for the AT1R 1166A/C polymorphism in restenosis after PCI. However, significant gene-gene interaction was suggested for the ACE gene and the HO-1 promotor. The RAS and HO-1 relation in restenosis merits further investigation.											
143799	Y	albuminuria hypertension	METABOLIC	MET	Albuminuria|Hypertension	17	17q23	ACE	58908165	58952935		Pedrinelli, R.  et al. 2006	16612256				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian		CDC GDP info	1636	Hs.298469			J Hypertens    2006    24(5)    931-937	alpha-Adducin and angiotensin-converting enzyme polymorphisms in hypertension		106180		CDC	2006	ACE DD and ADD1 Gly460Gly polymorphisms may jointly influence albuminuria in hypertensive men, 460Gly homozygosis facilitating or, possibly, the 460Trp allele mitigating the noxious renal impact of the ACE DD genotype.											
143800		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Suh, I.  et al. 2006	16615274				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Korean		CDC GDP info	1636	Hs.298469			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		106180		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
143801		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2	17	17q23	ACE	58908165	58952935		Prasad, P.  et al. 2006	16672053				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Indian;Asian	India	CDC GDP info	1636	Hs.298469			BMC Med Genet    2006    7(1)    42	Chronic renal insufficiency among Asian Indians with Type 2 diabetes		106180		CDC	2006	SNPs Met235Thr in angiotensinogen, T>C (-344) in aldosterone synthase, and G>A (-1903) in chymase genes are significantly associated with diabetic chronic renal insufficiency in Indian patients and warrant replication in larger sample sets. Use of such markers for prediction of susceptibility to diabetes specific renal disease in the ethnically Indian popula											
143803	Y	suicide	PSYCH	PSY		17	17q23	ACE	58908165	58952935		Hishimoto, A.  et al. 2006	16736244				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Neural Transm    2006	Association between a functional polymorphism in the renin-angiotensin system and completed suicide		106180		CDC	2006												
143804	N	intima-media thickness	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Brenner, D.  et al. 2006	16741188				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		France	CDC GDP info	1636	Hs.298469			Stroke    2006	Cytokine Polymorphisms Associated With Carotid Intima-Media Thickness in Stroke Patients		106180		CDC	2006	The OPN and MCP-1 genes, coding for 2 cytokines with known roles in atherosclerosis, may contribute to increased carotid IMT and warrant further study.											
143805	N	peritoneal transport	RENAL	REN	Kidney Diseases	17	17q23	ACE	58908165	58952935		Akcay, A.  et al. 2006	16741369				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Nephron Clin Pract    2006    104(1)    c41-c46	Relationship of ENOS and RAS Gene Polymorphisms to Initial Peritoneal Transport Status in Peritoneal Dialysis Patients		106180		CDC	2006	Modulation of the nitric oxide activity via the ENOS a/b polymorphism may have a considerable effect on the basal peritoneal permeability.											
143806		left ventricular function right ventricular function	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Hypertrophy, Left Ventricular|Myocardial Ischemia	17	17q23	ACE	58908165	58952935		Avila-Vanzzini, N.  et al. 2006	16789598				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Rev Invest Clin    2006    58(1)    39-46	ACE gene polymorphysm correlation (I/D) with the ventricular function in patients with ischemic and dilate idiopathic cardiomyopathy		106180		CDC	2006	In our group of study, patients with DD genotype shown better left ventricular function in ischemic or idiopathic dilated cardiomyopathy.											
143807	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Heart Failure|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Bedi, M.  et al. 2006	16818212				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Heart Rhythm    2006    3(7)    808-12	Genetic susceptibility to atrial fibrillation in patients with congestive heart failure		106180		CDC	2006	In patients with CHF, the presence of AF was significantly associated with certain ACE and eNOS genotypes.											
143809	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia|Genetic Predisposition to Disease|Recurrence	17	17q23	ACE	58908165	58952935		Fatini, C.  et al. 2006	16915032	ACE I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Hypertens    2006    24(9)    1823-1829	Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow		106180		CDC	2006	An original finding is the increased risk of pre-eclampsia and recurrence of pregnancy negative events, probably by modulating the maternal-fetal flow, in women homozygous for the eNOS 894T allele previously analyzed for the ACE I/D polymorphism.			ACE	ACE I/D	NOS3	NOS3 894T					
143810	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	ACE	58908165	58952935		Loew, M.  et al. 2006	16926677				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	German		CDC GDP info	1636	Hs.298469			Eur J Cardiovasc Prev Rehabil    2006    13(3)    449-56	Genotype combinations of plasminogen activator inhibitor-1 and angiotensin-converting enzyme genes and risk for early onset of coronary heart disease		106180		CDC	2006	The co-existence of the 4G/5G polymorphism of the plasminogen activator inhibitor type 1 gene and the I/D polymorphism of the angiotensin-converting enzyme gene increases the risk for early onset of coronary heart disease in this population.											
143811		weight loss	METABOLIC	MET	Weight Loss	17	17q23	ACE	58908165	58952935		Saunders, C. J.  et al. 2006	16950802				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian;South African		CDC GDP info	1636	Hs.298469			Hum Mol Genet    2006	Dipsogenic genes associated with weight changes during ironman triathlons		106180		CDC	2006	the functional SS genotype of the serotonin transporter-linked polymorphic region (5-HTTLPR) within the 5-HTT gene and the functional +9/+9 genotype of the BDKBR2 gene were associated with larger weight losses during the Ironman Triathlons. These findings suggest the involvement of the serotonergic pathways in the control of thirst and drinking behaviour and provide further evidence for the dipsogenic effect of circulating bradykinin.											
143813	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Acromegaly|Hypertension	17	17q23	ACE	58908165	58952935		Mulatero, P.  et al. 2006	17003099				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Clin Endocrinol Metab    2006	CYP11B2 -344T/C GENE POLYMORPHISM AND BLOOD PRESSURE IN PATIENTS WITH ACROMEGALY		106180		CDC	2006	We have shown an association of the -344T/C CYP11B2 gene polymorphism with BP in patients affected by acromegaly. These findings suggest that the RAAS is implicated in the pathogenesis of hypertension in acromegaly.											
143814			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Hoppe, B.  et al. 2006	17003923				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	German		CDC GDP info	1636	Hs.298469			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		106180		CDC	2006												
143815		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Yamada, Y.  et al. 2006	17016614				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Int J Mol Med    2006    18(5)    843-51	Genetic factors for obesity		106180		CDC	2006												
143816		peptic ulcer stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Sugimoto, M.  et al. 2006	17035401				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Japan	CDC GDP info	1636	Hs.298469			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1929-34	Influences of chymase and Angiotensin I-converting enzyme gene polymorphisms on gastric cancer risks in Japan		106180		CDC	2006	The CMA/B polymorphism was associated with an increased risk for gastric cancer and gastric ulcer development. The genotyping test of the renin-angiotensin system could be useful for the screening of individuals with higher risks of gastric cancer and gastric ulcer.											
143818		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Yilmaz, S.  et al. 2006	17111197				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		106180		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
143819		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Corder, E. H.  et al. 2006	17116317				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		106180		CDC	2006												
143820		endurance performance	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935		Liu, T.  et al. 2006	17121351				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Sheng Wu Yi Xue Gong Cheng Xue Za Zhi    2006    23(5)    1045-7	An association study between the insertion/deletion polymorphism of angiotensin I converting enzyme gene and human speed endurance		106180		CDC	2006												
143821	N	fibro-calculous pancreatid diabetes pancreatitis, tropical calcific	METABOLIC	MET	Pancreatitis, Chronic|Calcinosis|Diabetes Mellitus|Chromosome Deletion|Disease Progression|Genetic Predisposition to Disease|Fibrosis	17	17q23	ACE	58908165	58952935		Bhaskar, S.  et al. 2006	17163998				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			BMC Gastroenterol    2006    6(1)    42	Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis		106180		CDC	2006	We conclude that the ACE insertion/deletion variant does not show any significant association with the pathogenesis, fibrosis and progression of tropical calcific pancreatitis and the fibro-calculous pancreatic diabetes.											
143822		PAI-1 levels tissue plasminogen activator	METABOLIC	MET		17	17q23	ACE	58908165	58952935		Asselbergs, F. W.  et al. 2007	17207964				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Genomics    2007	Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels		106180		CDC	2007												
143824		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Hu, C. J.  et al. 2007	17243909				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Taiwan	CDC GDP info	1636	Hs.298469			Clin Chem Lab Med    2007    45(1)    20-5	Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases		106180		CDC	2007	This community-based study reveals that genetic factors might play a role in the metabolism of lipids. The genetic risk for CVDs needs further investigation.											
143825	N	left ventricular mass myocardial infarct	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Myocardial Infarction	17	17q23	ACE	58908165	58952935		Goracy, J.  et al. 2006	17274465				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Polish		CDC GDP info	1636	Hs.298469			Pol Arch Med Wewn    2006    115(2)    105-11	Allelic variants of genes		106180		CDC	2006	Our results suggest that polymorphisms of the ACE, AT1R and MTHFR genes do not predispose to myocardial infarction and higher left ventricular mass in the Polish population.											
143827		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	17	17q23	ACE	58908165	58952935		Tazon-Vega, B.  et al. 2007	17303584				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	European		CDC GDP info	1636	Hs.298469			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		106180		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
143829		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Freitas, S. R.  et al. 2007	17334527				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Brazilian		CDC GDP info	1636	Hs.298469			Braz J Med Biol Res    2007    40(3)    309-16	Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension		106180		CDC	2007												
143830	Y	insulin left ventricular mass	METABOLIC	MET	Hypertrophy, Left Ventricular|Hypertension|Insulin Resistance	17	17q23	ACE	58908165	58952935		Perticone, F.  et al. 2007	17367703	ACE I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Nutr Metab Cardiovasc Dis    2007    17(3)    181-7	Role of PC-1 and ACE genes on insulin resistance and cardiac mass in never-treated hypertensive patients. Suggestive evidence for a digenic additive modulation		106180		CDC	2007	In hypertensive patients PC-1 K121Q and ACE I/D polymorphisms have an additive deleterious effect on insulin resistance and, consequently, on LVM, thus increasing the global cardiovascular risk. Identification of carriers of the at-risk genotypes may help set up prevention strategies to be specifically targeted at these patients.			ACE	ACE I/D	ENPP1	K121Q					
143831		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Disease Progression|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Kara, I.  et al. 2007	17381556				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Turkey	CDC GDP info	1636	Hs.298469			Cephalalgia    2007    27(3)    235-43	Combined effects of ACE and MMP-3 polymorphisms on migraine development		106180		CDC	2007												
143833	Y	cardiac death	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension	17	17q23	ACE	58908165	58952935		Li, Y.  et al. 2007	17452507				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Hypertension    2007	Angiotensin-Converting Enzyme I/D and {alpha}-Adducin Gly460Trp Polymorphisms. From Angiotensin-Converting Enzyme Activity to Cardiovascular Outcome		106180		CDC	2007	the combination of ACE DD homozygosity and mutated ADD1 worsened cardiovascular prognosis to a similar extent as classic risk factors, possibly because of increased membrane-bound ACE activity in subjects carrying the ADD1 Trp allele.											
143834		hypertension	PHARMACOGENOMIC	PHARM	Hypertension|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199		Fan, X.  et al. 2007	17473847				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Clin Pharmacol Ther    2007	Polymorphisms of ACE2 Gene are Associated With Essential Hypertension and Antihypertensive Effects of Captopril in Women		300335		CDC	2007	the ACE2 T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors.		atenolol captopril hydrochlorothiazide nifedipine									
143835		depression	PSYCH	PSY	Depressive Disorder, Major	17	17q23	ACE	58908165	58952935		Saab, Y. B.  et al. 2007	17499413				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Prog Neuropsychopharmacol Biol Psychiatry    2007	Renin-angiotensin-system gene polymorphisms and depression		106180		CDC	2007												
143836	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression	17	17q23	ACE	58908165	58952935		Franco, E.  et al. 2007	17519002				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Italian	Italy	CDC GDP info	1636	Hs.298469			BMC Med Genet    2007    8(1)    27	Renin-angiotensin-aldosterone system polymorphisms		106180		CDC	2007	Polymorphisms in RAAS genes can be important in the onset of a first AMI in young patients (ACE, CYP11B2 polymorphisms), but not in the disease progression after a long follow-up period. Larger collaborative studies are needed to confirm these results.											
143837		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Pre-Eclampsia	17	17q23	ACE	58908165	58952935		Benedetto, C.  et al. 2007	17520398				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Acta Obstet Gynecol Scand    2007    86(6)    678-82	Synergistic effect of renin-angiotensin system and nitric oxide synthase genes polymorphisms in pre-eclampsia		106180		CDC	2007												
143839	Y	blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	17	17q23	ACE	58908165	58952935		Jiang, X.  et al. 2007	17531119	ACE D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Chin Med J (Engl)    2007    120(9)    782-786	Effect of renin-angiotensin-aldosterone system gene polymorphisms on blood pressure response to antihypertensive treatment		106180		CDC	2007	AGT-6G allele, CYP11B2 -344CC genotype and its combination with ACE D allele are associated with BP response to hydrochlorothiazide treatment. Larger studies are warranted to validate this finding.		hydrochlorothiazide	ACE	ACE D	CYP11B2	CYP11B2 -344CC	AGT	AGT-6G	Y	BP response to hydrochlorothiazide treatment	
143840			NEUROLOGICAL	NEUR	Alzheimer Disease|Coronary Artery Disease	17	17q23	ACE	58908165	58952935		Santovito, A.  et al. 2007	17536759				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	European;Italian		CDC GDP info	1636	Hs.298469			Ann Hum Biol    2007    34(1)    102-6	Allelic frequencies at the ACE and LRPAP1 loci suggest age-related relationships in a northern Italian population		106180		CDC	2007												
143841		hypertension	CARDIOVASCULAR	CARD		17	17q23	ACE	58908165	58952935		Freitas, S. R.  et al. 2007	17546276				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Brazilian		CDC GDP info	1636	Hs.298469			Arq Bras Cardiol    2007    88(4)    447-51	Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region		106180		CDC	2007	These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.											
143843		albuminuria blood pressure, arterial body mass endothelial function glucose lipids metabolic syndrome renal function	METABOLIC	MET	Albuminuria|Hypertension|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Dell'omo, G.  et al. 2007	17563560				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Hypertens    2007    25(7)    1389-1395	Lack of association between endothelial nitric oxide synthase gene polymorphisms, microalbuminuria and endothelial dysfunction in hypertensive men		106180		CDC	2007	eNOS polymorphisms apparently play no role in promoting hypertensive renal damage, and do not influence endothelial-mediated vasodilatation in never-treated men with essential hypertension.											
143844	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	17	17q23	ACE	58908165	58952935		Ortega-Pierres, L. E.  et al. 2007	17570179				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Mexican		CDC GDP info	1636	Hs.298469			Med Clin (Barc)    2007    129(1)    6-10	Angiotensin-1 converting enzyme insertion/deletion gene polymorphism in a Mexican population with diabetic nephropathy.		106180		CDC	2007	The ACE DD genotype is associated with the development of incipient diabetic nephropathy and established diabetic nephropathy in a Mexican population.											
143846	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199		Mineharu, Y.  et al. 2006	16574921				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDP info	59272	Hs.178098			Stroke    2006	Association Analysis of Common Variants of ELN, NOS2A, APOE and ACE2 to Intracranial Aneurysm		300335		CDC	2006	Investigated polymorphisms in this study were not associated with IA.											
143847	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	X	Xp22	ACE2	15489076	15530199		Yi, L.  et al. 2006	16866021				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDP info	59272	Hs.178098			J Int Med Res    2006    34(3)    272-83	Association of ACE, ACE2 and UTS2 polymorphisms with essential hypertension in Han and Dongxiang populations from north-western China		300335		CDC	2006												
143848	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199		Fan, X.  et al. 2007	17473847				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDP info	59272	Hs.178098			Clin Pharmacol Ther    2007	Polymorphisms of ACE2 Gene are Associated With Essential Hypertension and Antihypertensive Effects of Captopril in Women		300335		CDC	2007	the ACE2 T allele confers a high risk for hypertension and reduced antihypertensive response to ACE inhibitors.		atenolol captopril hydrochlorothiazide nifedipine									
143850		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q22	ACHE	100325550	100332475		Piccardi, M.  et al. 2007	17503475				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3	Sardinian		CDC GDP info	43	Hs.154495			Am J Med Genet B Neuropsychiatr Genet    2007	Alzheimer's disease		100740		CDC	2007												
143851		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	2	2p25	ACP1	254871	268282		Yoon, D. Y.  et al. 2006	17171650				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2			CDC GDP info	52	Hs.558296			Am J Med Genet B Neuropsychiatr Genet    2006	Dopaminergic polymorphisms in Tourette syndrome		171500		CDC	2006												
143852		allergies	IMMUNE	IMM	Leiomyoma|Colonic Neoplasms|Uterine Neoplasms|Asthma|Dermatitis, Atopic|Hypersensitivity|Genetic Predisposition to Disease	2	2p25	ACP1	254871	268282		Bottini, E.  et al. 2007	17390764				Acid phosphatase 1, soluble	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007099.2	Chinese;Italian		CDC GDP info	52	Hs.558296			Allergy Asthma Proc    2007    28(1)    87-92	Allergy and ACP1 genetic polymorphism		171500		CDC	2007												
143853		weight loss	METABOLIC	MET		10	10q25.1-q25.2	ACSL5	114123905	114178128		Adamo, K. B.  et al. 2007	17495181				Acyl-CoA synthetase long-chain family member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_203380			CDC GDP info	51703	Hs.11638			Obesity (Silver Spring)    2007    15(5)    1068-75	Peroxisome Proliferator-activated Receptor {gamma} 2 and Acyl-CoA Synthetase 5 Polymorphisms Influence Diet Response				CDC	2007			diet									
143855	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q31	ACSL6	131170738	131375769		Chen, X.  et al. 2006	17030554				Acyl-CoA synthetase long-chain family member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020644	German;Irish		CDC GDP info	23305	Hs.14945			Hum Mol Genet    2006	Haplotypes spanning SPEC2, PDZ-G EF2 and ACSL6 genes are associated with schizophrenia				CDC	2006												
143856	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p13.11	ACSM3	20682812	20715980		Yamada, Y.  et al. 2006	17070428				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3			CDC GDP info	6296	Hs.642666			Am J Hypertens    2006    19(11)    1158-65	Assessment of the genetic component of hypertension		145505		CDC	2006	These results suggest that the genotypes for ITGA2, GCK, and PTGIS may prove reliable for the assessment of the genetic component of hypertension.											
143857		body mass hypertension	METABOLIC	MET	Hypertension|Obesity	16	16p13.11	ACSM3	20682812	20715980		Telgmann, R.  et al. 2007	17278971				acyl-CoA synthetase medium-chain family member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005622.3	Japanese;Caucasian		CDC GDP info	6296	Hs.642666			J Hypertens    2007    25(3)    557-564	SAH gene variants are associated with obesity-related hypertension in Caucasians		145505		CDC	2007	We confirm recent evidence that the SAH locus is associated with obesity-related hypertension, in which pathophysiological context SAH variants affecting blood pressure remain, however, to be shown.											
143859		endurance performance	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Moran, C. N.  et al. 2006	17033684				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1	Greek		CDC GDP info	89	Hs.445037			Eur J Hum Genet    2006	Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks		102574		CDC	2006												
143860	Y	muscle strength	AGING	AGE		11	11q13-q14	ACTN3	66070966	66087373		Delmonico, M. J.  et al. 2007	17339648				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDP info	89	Hs.445037			J Gerontol A Biol Sci Med Sci    2007    62(2)    206-12	Alpha-Actinin-3 (ACTN3) R577X Polymorphism Influences Knee Extensor Peak Power Response to Strength Training in Older Men and Women		102574		CDC	2007	The results indicate that the ACTN3 R577X polymorphism influences the response of quadriceps muscle power to ST in older adults.											
143861	P	athletic performance	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Paparini, A.  et al. 2007	17468578				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1	Caucasian;Italian		CDC GDP info	89	Hs.445037			Med Sci Sports Exerc    2007    39(5)    810-5	ACTN3 Genotyping by Real-Time PCR in the Italian Population and Athletes		102574		CDC	2007	Real-time PCR represents an effective approach for typing ACTN3 alleles. Allelic frequencies in the Italian population are consistent with those seen in other studies on Caucasians.											
143862		elite performance	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Santiago, C.  et al. 2007	17550918				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDP info	89	Hs.445037			Br J Sports Med    2007	ACTN3 genotype in professional soccer players		102574		CDC	2007												
143863	Y	aerobic exercise capacity	METABOLIC	MET	Glycogen Storage Disease Type V	11	11q13-q14	ACTN3	66070966	66087373		Lucia, A.  et al. 2007	17560787	ACTN3   577X	protective		Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1			CDC GDP info	89	Hs.445037			Neuromuscul Disord    2007	The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease		102574		CDC	2007												
143865		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Telangiectasia, Hereditary Hemorrhagic|Chromosome Aberrations	12	12q11-q14	ACVRL1	50587468	50603412		Bossler, A. D.  et al. 2006	16752392				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1			CDC GDP info	94	Hs.591026			Hum Mutat    2006    27(7)    667-675	Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT)		601284		CDC	2006												
143866	Y	arteriovenous dysplasias brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Central Nervous System Vascular Malformations|Arteriovenous Malformations	12	12q11-q14	ACVRL1	50587468	50603412		Simon, M.  et al. 2006	16776339				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1			CDC GDP info	94	Hs.591026			J Neurosurg    2006    104(6)    945-9	Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system		601284		CDC	2006	The results of this study link ACVRL1 (HHT Type 2 gene) to the formation of the clinically sporadic variants of vascular malformations of the CNS most commonly seen in patients with HHT, that is, AVMs and DAVFs.											
143867		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Epistaxis|Arteriovenous Malformations|Intracranial Arteriovenous Malformations|Telangiectasia, Hereditary Hemorrhagic	12	12q11-q14	ACVRL1	50587468	50603412		Sabba, C.  et al. 2007	17388964				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1			CDC GDP info	94	Hs.591026			J Thromb Haemost    2007	Hereditary hemorragic telangiectasia		601284		CDC	2007	Our study evidences a higher visceral involvement in HHT1 and HHT2 compared with previous reports.											
143868		IgE	IMMUNE	IMM	Asthma|Hypersensitivity	20	20q12-q13.11	ADA	42681576	42713790		Gloria-Bottini, F.  et al. 2006	16724628				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDP info	100	Hs.255479			Allergy Asthma Proc    2006    27(2)    115-8	Adenosine deaminase polymorphism and the relationship of total immunoglobulin E with skin prick test		608958		CDC	2006												
143869		asthma	IMMUNE	IMM	Asthma	20	20q12-q13.11	ADA	42681576	42713790		Liu, Y.  et al. 2006	16754522				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDP info	100	Hs.255479			J Asthma    2006    43(3)    203-206	ADA Polymorphisms and Asthma		608958		CDC	2006												
143870		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	20	20q12-q13.11	ADA	42681576	42713790		Hwang, Y.  et al. 2006	16886895				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDP info	100	Hs.255479			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		608958		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
143871		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation	20	20q12-q13.11	ADA	42681576	42713790		Saccucci, P.  et al. 2006	16970880				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDP info	100	Hs.255479			J Child Neurol    2006    21(9)    753-6	Association of adenosine deaminase polymorphism with mild mental retardation		608958		CDC	2006	338 participants were enrolled in the study.											
143872	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20q12-q13.11	ADA	42681576	42713790		Safranow, K.  et al. 2007	17287605				Adenosine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000022.2			CDC GDP info	100	Hs.255479			Cardiology    2007    108(4)    275-281	ADA*2 Allele of the Adenosine Deaminase Gene May Protect against Coronary Artery Disease		608958		CDC	2007	ADA*2 allele may decrease genetic susceptibility to CAD. ADA should be added to the list of candidate genes modifying the risk of cardiovascular diseases. Copyright (c) 2007 S. Karger AG, Basel.											
143873		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	10	10q26.3	ADAM12	127693414	128067055		Valdes, A. M.  et al. 2006	16453284				ADAM metallopeptidase domain 12 (meltrin alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003474		Great Britain	CDC GDP info	8038	Hs.655388			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		602714		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
143875		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738			16519819				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDP info	80332	Hs.173716			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		607114		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
143877	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Kedda, M. A.  et al. 2006	16773130				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	Australian;Caucasian		CDC GDP info	80332	Hs.173716			Eur J Hum Genet    2006	ADAM33 haplotypes are associated with asthma in a large Australian population		607114		CDC	2006												
143878	N	asthma bronchial hyperresponsiveness lung function	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	20	20p13	ADAM33	3596617	3610738		Schedel, M.  et al. 2006	16784537				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	German		CDC GDP info	80332	Hs.173716			Respir Res    2006    7(1)    91	The role of polymorphisms in ADAM33, a disintegrin and metalloprotease 33, in childhood asthma and lung function in two German populations		607114		CDC	2006	The originally reported association between ADAM33 polymorphisms and asthma and BHR could not be confirmed.		smoke (tobacco), passive									
143879	Y	asthma	IMMUNE	IMM	Asthma	20	20p13	ADAM33	3596617	3610738		Hirota, T.  et al. 2006	16839403				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2		Japan	CDC GDP info	80332	Hs.173716			Clin Exp Allergy    2006    36(7)    884-91	Association between ADAM33 polymorphisms and adult asthma in the Japanese population		607114		CDC	2006	Our results replicate associations reported recently in other ethnic populations, and suggest that the ADAM33 gene is involved in the development of asthma through genetic polymorphisms.											
143880	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Wang, P.  et al. 2006	16893396				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDP info	80332	Hs.173716			Int J Immunogenet    2006    33(4)    303-6	Lack of association between ADAM33 gene and asthma in a Chinese population		607114		CDC	2006												
143881	Y	asthma, aspirin-intolerant	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Sakagami, T.  et al. 2006	17061022				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	Japanese;Caucasian		CDC GDP info	80332	Hs.173716			J Hum Genet    2006	ADAM33 polymorphisms are associated with aspirin-intolerant asthma in the Japanese population		607114		CDC	2006												
143883		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Inflammation	9	9q34	ADAMTS13	135269298	135314328		Bongers, T. N.  et al. 2006	16990571				ADAM metallopeptidase with thrombospondin type 1 motif, 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139025.2			CDC GDP info	11093	Hs.131433			Stroke    2006    37(11)    2672-7	High von Willebrand factor levels increase the risk of first ischemic stroke		604134		CDC	2006	vWF antigen and activity are associated with the occurrence of acute ischemic stroke.											
143884		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	1	1q21.1-q21.2	ADAR	152821157	152867061		Hwang, Y.  et al. 2006	16886895				Adenosine deaminase, RNA-specific	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001111.3			CDC GDP info	103	Hs.12341			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		601059		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
143886	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4p16.3	ADD1	2815374	2901587			16420563				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		United States	CDC GDP info	118	Hs.183706			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		102680		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
143887		blood pressure, arterial diuretic effects heart rate hypokalemia	PHARMACOGENOMIC	PHARM		4	4p16.3	ADD1	2815374	2901587		Vormfelde, S. V.  et al. 2006	16450155				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Eur J Clin Pharmacol    2006        1-7	Hydrochlorothiazide efficacy and polymorphisms in ACE, ADD1 and GNB3 in healthy, male volunteers		102680		CDC	2006	The effects of genetic polymorphisms were stronger with the higher diuretic dose.		hydrochlorothiazide									
143889	Y	blood pressure, arterial intima-media thickness	CARDIOVASCULAR	CARD		4	4p16.3	ADD1	2815374	2901587			16531798				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian		CDC GDP info	118	Hs.183706			J Hypertens    2006    24(4)    697-703	The 460Trp allele of alpha-adducin increases carotid intima-media thickness in young adult males		102680		CDC	2006	The 460Trp allele of ADD1 contributes substantially to increase carotid IMT, in a male hormonal milieu only, at least in the young age range.											
143890	Y	albuminuria hypertension	METABOLIC	MET	Albuminuria|Hypertension	4	4p16.3	ADD1	2815374	2901587		Pedrinelli, R.  et al. 2006	16612256				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian		CDC GDP info	118	Hs.183706			J Hypertens    2006    24(5)    931-937	alpha-Adducin and angiotensin-converting enzyme polymorphisms in hypertension		102680		CDC	2006	ACE DD and ADD1 Gly460Gly polymorphisms may jointly influence albuminuria in hypertensive men, 460Gly homozygosis facilitating or, possibly, the 460Trp allele mitigating the noxious renal impact of the ACE DD genotype.											
143891		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Suh, I.  et al. 2006	16615274				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Korean		CDC GDP info	118	Hs.183706			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		102680		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
143892		hypertension	PHARMACOGENOMIC	PHARM	Coronary Disease|Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Davis, B. R.  et al. 2006	16702981				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Pharmacogenomics J    2006	Antihypertensive therapy, the alpha-adducin polymorphism, and cardiovascular disease in high-risk hypertensive persons		102680		CDC	2006			amlodipine chlorthalidone doxazosin lisinopril									
143894	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Qian, Y. S.  et al. 2006	16970091				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Zhongguo Zhong Xi Yi Jie He Za Zhi    2006    26(8)    698-701	Relationship between the polymorphism of alpha-adducin gene and the two phenotypes of constitutions in patients with essential hypertension classified by TCM		102680		CDC	2006	There was no relation between ADD1 gene polymorphism and the TCM genotype of constitution in patients with essential hypertension.											
143895	Y	diabetes, type 2 hypertension intima-media thickness mortality	METABOLIC	MET	Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	4	4p16.3	ADD1	2815374	2901587		Yazdanpanah, M.  et al. 2006	17003363				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian	Netherlands	CDC GDP info	118	Hs.183706			Diabetes    2006    55(10)    2922-7	The {alpha}-Adducin Gene Is Associated With Macrovascular Complications and Mortality in Patients With Type 2 Diabetes		102680		CDC	2006												
143896		gastroschisis	DEVELOPMENTAL	DEV	Gastroschisis|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Torfs, C. P.  et al. 2006	17051589				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Birth Defects Res A Clin Mol Teratol    2006    76(10)    723-730	Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis		102680		CDC	2006	These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.		smoking (tobacco), maternal									
143897	Y	atherosclerosis, generalized cardiovascular disease cerebrovascular disease myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Carotid Artery Diseases|Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Atherosclerosis	4	4p16.3	ADD1	2815374	2901587		van Rijn, M. J.  et al. 2006	17082469	ADD1   Gly460Trp			Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		Netherlands	CDC GDP info	118	Hs.183706			Stroke    2006	{alpha}-Adducin Polymorphism, Atherosclerosis, and Cardiovascular and Cerebrovascular Risk		102680		CDC	2006	The Gly460Trp polymorphism is associated with$$$ atherosclerosis, cardiovascular disease, and cerebrovascular disease, especially in hypertensive subjects.		blood pressure									
143899		myocardial infarct stroke	PHARMACOGENOMIC	PHARM	Myocardial Infarction|Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Schelleman, H.  et al. 2006	17189961				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Pharmacogenomics J    2006	Diuretic-gene interaction and the risk of myocardial infarction and stroke		102680		CDC	2006			diuretic therapy									
143900		preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Premature Birth|Infant, Premature, Diseases	4	4p16.3	ADD1	2815374	2901587		Gibson, C. S.  et al. 2007	17267840				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2		South Australia	CDC GDP info	118	Hs.183706			Obstet Gynecol    2007    109(2)    384-391	Genetic Polymorphisms and Spontaneous Preterm Birth		102680		CDC	2007	We confirm previous observations that variants of the beta adrenergic receptor and of nitric oxide synthase are associated with prematurity, and suggest that genetic variants of the placental antifibrinolytic plasminogen activator inhibitor-2, and thrombomodulin and alpha adducin may be contributors to risk of spontaneous preterm birth. LEVEL OF EVIDENCE: II											
143902	Y	cardiac death	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension	4	4p16.3	ADD1	2815374	2901587		Li, Y.  et al. 2007	17452507				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Hypertension    2007	Angiotensin-Converting Enzyme I/D and {alpha}-Adducin Gly460Trp Polymorphisms. From Angiotensin-Converting Enzyme Activity to Cardiovascular Outcome		102680		CDC	2007	the combination of ACE DD homozygosity and mutated ADD1 worsened cardiovascular prognosis to a similar extent as classic risk factors, possibly because of increased membrane-bound ACE activity in subjects carrying the ADD1 Trp allele.											
143903		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease|Overweight	4	4p16.3	ADD1	2815374	2901587		Pescatello, L. S.  et al. 2007	17472579				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Clin Sci (Lond)    2007	The alpha adducin Gly460Trp polymorphism and the antihypertensive effects of exercise among men with high blood pressure		102680		CDC	2007			physical activity									
143904	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p14-p13	ADD2	70742770	70848837		Marcun Varda, N.  et al. 2006	16497648				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2	Caucasian		CDC GDP info	119	Hs.188528			Acta Paediatr    2006    95(3)    353-8	Polymorphisms in four candidate genes in young patients with essential hypertension		102681		CDC	2006	they do not confer a significantly increased risk of the development of EH in the Slovenian population of hypertensive children.											
143906	P		CANCER	CAN	Neoplasms	4	4q21-q23	ADH1A	100416546	100431165		Yoshimura, K.  et al. 2003	14634838				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667			CDC GDP info	124	Hs.368549			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		103700		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
143907		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1A	100416546	100431165		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667	African American;European	United States	CDC GDP info	124	Hs.368549			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		103700		CDC	2006												
143908		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q21-q23	ADH1A	100416546	100431165		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase 1A (class I), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000667	European		CDC GDP info	124	Hs.368549			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		103700		CDC	2006												
143910	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581			16520888				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		103720		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
143911		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	African American;European	United States	CDC GDP info	125	Hs.4			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		103720		CDC	2006												
143912		alcohol abuse	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1B	100446551	100461581		Matsuo, K.  et al. 2006	16702384				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Cancer Epidemiol Biomarkers Prev    2006    15(5)    1009-13	Alcohol Dehydrogenase 2 His47Arg Polymorphism Influences Drinking Habit Independently of Aldehyde Dehydrogenase 2 Glu487Lys Polymorphism		103720		CDC	2006	this study showed the strong effect of ADH2 His(47)Arg polymorphism on habitual drinking regardless of ALDH2 genotype.											
143914		pancreatitis	OTHER	OTH	Pancreatitis|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Shimosegawa, T.  et al. 2006	16958672				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			J Gastroenterol Hepatol    2006    21 Suppl 3    S47-51	SPINK1 gene mutations and pancreatitis in Japan		103720		CDC	2006	in Japan the [-215G > A; IVS3 + 2T > C] mutation in the SPINK1 gene may form a unique genetic background for pancreatitis.											
143915	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1B	100446551	100461581		Montane-Jaime, K.  et al. 2006	17134660				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Indian		CDC GDP info	125	Hs.4			Alcohol    2006    39(2)    81-6	ADH1C*2 allele is associated with alcohol dependence and elevated liver enzymes in Trinidad and Tobago		103720		CDC	2006												
143916		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	European		CDC GDP info	125	Hs.4			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		103720		CDC	2006												
143917		breast cancer	CANCER	CAN		4	4q21-q23	ADH1B	100446551	100461581		Terry, M. B.  et al. 2007	17268812				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Breast Cancer Res Treat    2007	Alcohol metabolism, alcohol intake, and breast cancer risk		103720		CDC	2007			alcohol									
143918	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	4	4q21-q23	ADH1B	100446551	100461581		Jia, C.  et al. 2007	17289126	ADH1B  Arg47His			Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Asian		CDC GDP info	125	Hs.4			Thromb Res    2007	Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary artery disease		103720		CDC	2007	The mutant genotypes of eNOS gene T-786C mutation and the fast form of ADH2 Arg47His polymorphism had an additive interaction on the risk of premature CAD in Chinese population. Further investigations with big sample size are necessary for confirming this additive interaction.			ADH1B	ADH1B  Arg47His	NOS3	NOS3  T-786C					
143920	N	breast cancer	CANCER	CAN	Breast Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Visvanathan, K.  et al. 2007	17295732				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Alcohol Clin Exp Res    2007    31(3)    467-76	Alcohol Dehydrogenase Genetic Polymorphisms, Low-to-Moderate Alcohol Consumption, and Risk of Breast Cancer		103720		CDC	2007	In this study low levels of alcohol are associated with a modest increase in breast cancer risk that is not altered by known functional allelic variants of the ADH1B and 1C gene.		alcohol									
143921	Y	alcohol abuse cirrhosis, alcoholic pancreatitis, chronic	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Pancreatitis, Chronic|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Cichoz-Lach, H.  et al. 2007	17454860	ADH2*2			Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Polish		CDC GDP info	125	Hs.4	protective		Scand J Gastroenterol    2007    42(4)    493-8	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals		103720		CDC	2007	In the Polish population examined, the ADH3*1 allele and the ADH3*1/*1 genotype are conducive to the development of alcoholism, alcohol liver cirrhosis and alcohol chronic pancreatitis. However, the ADH2*2 allele is likely to protect against these conditions. Genetic polymorphism of ALDH2 shows no correlation with alcohol addiction or alcohol cirrhosis and alcohol chronic pancreatitis. The ADH3*1 allele and the ADH3*1/*1 genotype are conducive to alcohol abuse starting at a younger age.											
143922		atherosclerosis, coronary blood pressure, arterial cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581			17486761				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105	Russian		CDC GDP info	125	Hs.4			Genetika    2007    43(3)    409-16	Association analysis of alcohol metabolizing enzymes ADH1B, ADH7, CYP2E1 gene polymorphism with risk for coronary atherosclerosis		103720		CDC	2007												
143923		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Yin, G.  et al. 2007	17517051				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Cancer Sci    2007	Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer		103720		CDC	2007			alcohol									
143924	P		CANCER	CAN	Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Yoshimura, K.  et al. 2003	14634838				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		103730		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
143926		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	African American;European	United States	CDC GDP info	126	Hs.4			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		103730		CDC	2006												
143927		medicamentosa-like dermatitis, trichloroethylene	OTHER	OTH		4	4q21-q23	ADH1C	100476671	100492940		Li, H. S.  et al. 2006	16758956				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Wei Sheng Yan Jiu    2006    35(2)    149-51	Polymorphisms of aldehyde and alcohol dehydrogenase genes associated with susceptibility to trichloroethylene-induced medicamentosa-like dermatitis		103730		CDC	2006	The active ALDH2 might be one of the factors influencing the individual susceptibility to TCE-induced medicamentosa-like dermatitis.											
143928		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Breast Cancer Association, = Consortium  et al. 2006	17018785				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		103730		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
143930		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	European		CDC GDP info	126	Hs.4			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		103730		CDC	2006												
143931		breast cancer	CANCER	CAN		4	4q21-q23	ADH1C	100476671	100492940		Terry, M. B.  et al. 2007	17268812				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Breast Cancer Res Treat    2007	Alcohol metabolism, alcohol intake, and breast cancer risk		103730		CDC	2007			alcohol									
143932	N	breast cancer	CANCER	CAN	Breast Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Visvanathan, K.  et al. 2007	17295732				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Alcohol Clin Exp Res    2007    31(3)    467-76	Alcohol Dehydrogenase Genetic Polymorphisms, Low-to-Moderate Alcohol Consumption, and Risk of Breast Cancer		103730		CDC	2007	In this study low levels of alcohol are associated with a modest increase in breast cancer risk that is not altered by known functional allelic variants of the ADH1B and 1C gene.		alcohol									
143934		colorectal cancer	CANCER	CAN	Colonic Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Curtin, K.  et al. 2007	17449906				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		103730		CDC	2007			alcohol folate methionine Vitamin B12									
143935	Y	alcohol abuse cirrhosis, alcoholic pancreatitis, chronic	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Pancreatitis, Chronic|Alcoholism|Genetic Predisposition to Disease	4	4q21-q23	ADH1C	100476671	100492940		Cichoz-Lach, H.  et al. 2007	17454860	ADH3*1   ADH3*1/*1			Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Polish		CDC GDP info	126	Hs.4			Scand J Gastroenterol    2007    42(4)    493-8	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals		103730		CDC	2007	In the Polish population examined, the ADH3*1 allele and the ADH3*1/*1 genotype are conducive to the development of alcoholism, alcohol liver cirrhosis and alcohol chronic pancreatitis. However, the ADH2*2 allele is likely to protect against these conditions. Genetic polymorphism of ALDH2 shows no correlation with alcohol addiction or alcohol cirrhosis and alcohol chronic pancreatitis. The ADH3*1 allele and the ADH3*1/*1 genotype are conducive to alcohol abuse starting at a younger age.											
143936		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	4	4q21-q23	ADH1C	100476671	100492940		Yin, G.  et al. 2007	17517051				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Cancer Sci    2007	Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer		103730		CDC	2007			alcohol									
143938		personality traits	PSYCH	PSY	Substance-Related Disorders	4	4q21-q24	ADH4	100263855	100284472		Luo, X.  et al. 2007	17069770				Alcohol dehydrogenase 4 (class II), pi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000670.3	African American;European		CDC GDP info	127	Hs.1219			Biol Psychiatry    2007    61(5)    599-608	Personality traits of agreeableness and extraversion are associated with ADH4 variation		103740		CDC	2007	personality traits and SD have a partially overlapping genetic basis.											
143939		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q21-q25	ADH5	100211152	100228954		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase 5 (class III), chi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226177	African American;European	United States	CDC GDP info	128	Hs.78989			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		103710		CDC	2006												
143940		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q21-q25	ADH5	100211152	100228954		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase 5 (class III), chi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226177	European		CDC GDP info	128	Hs.78989			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		103710		CDC	2006												
143941		asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	4	4q21-q25	ADH5	100211152	100228954		Wu, H.  et al. 2007	17543375				Alcohol dehydrogenase 5 (class III), chi polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226177			CDC GDP info	128	Hs.78989			J Allergy Clin Immunol    2007	Genetic variation in S-nitrosoglutathione reductase (GSNOR) and childhood asthma		103710		CDC	2007	This is the first study of genetic polymorphisms in GSNOR and asthma.											
143942		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q23	ADH6	100342817	100359424		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase 6 (class V)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC039065	African American;European	United States	CDC GDP info	130	Hs.586161			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		103735		CDC	2006												
143943		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q23	ADH6	100342817	100359424		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase 6 (class V)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC039065	European		CDC GDP info	130	Hs.586161			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		103735		CDC	2006												
143944		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	4	4q23-q24	ADH7	100552440	100575548		Luo, X.  et al. 2006	16685648				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3	African American;European	United States	CDC GDP info	131	Hs.389			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		600086		CDC	2006												
143945		drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4q23-q24	ADH7	100552440	100575548		Luo, X.  et al. 2006	17185388				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3	European		CDC GDP info	131	Hs.389			Hum Mol Genet    2006	Multiple ADH genes modulate risk for drug dependence		600086		CDC	2006												
143946		atherosclerosis, coronary blood pressure, arterial cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	4	4q23-q24	ADH7	100552440	100575548			17486761				Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000673.3	Russian		CDC GDP info	131	Hs.389			Genetika    2007    43(3)    409-16	Association analysis of alcohol metabolizing enzymes ADH1B, ADH7, CYP2E1 gene polymorphism with risk for coronary atherosclerosis		600086		CDC	2007												
143947		adiponectin atherosclerosis, carotid insulin metabolic syndrome	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X	3	3q27	ADIPOQ	188043156	188058946			16418740				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian		CDC GDP info	9370	Hs.80485			Eur J Hum Genet    2006	The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians		605441		CDC	2006												
143948		adiponectin body mass obesity	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946			16421345				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Obes Res    2005    13(12)    2113-21	ACDC/Adiponectin and PPAR-{gamma} Gene Polymorphisms		605441		CDC	2005												
143950	Y	adiponectin	METABOLIC	MET		3	3q27	ADIPOQ	188043156	188058946		Woo, J. G.  et al. 2006	16443790				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	non-Hispanic		CDC GDP info	9370	Hs.80485			Diabetes    2006    55(2)    523-529	Interactions Between Noncontiguous Haplotypes in the Adiponectin Gene ACDC Are Associated With Plasma Adiponectin		605441		CDC	2006												
143951	Y	obesity	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Bouatia-Naji, N.  et al. 2006	16443793				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian;French		CDC GDP info	9370	Hs.80485			Diabetes    2006    55(2)    545-50	ACDC/Adiponectin Polymorphisms Are Associated With Severe Childhood and Adult Obesity		605441		CDC	2006												
143953	N	hyperglycemia insulin	METABOLIC	MET	Diabetes Mellitus|Hyperglycemia|Hyperinsulinism|Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Jaziri, R.  et al. 2006	16567542				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian;French		CDC GDP info	9370	Hs.80485			Diabetes    2006    55(4)    1157-62	The PPARG Pro12Ala Polymorphism Is Associated With a Decreased Risk of Developing Hyperglycemia Over 6 Years and Combines With the Effect of the APM1 G-11391A Single Nucleotide Polymorphism		605441		CDC	2006												
143954	Y	adiponectin glucose insulin lipids	METABOLIC	MET	Insulin Resistance|Obesity|Weight Loss|Overweight	3	3q27	ADIPOQ	188043156	188058946		Shin, M. J.  et al. 2006	16607383				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Korean		CDC GDP info	9370	Hs.80485			Int J Obes (Lond)    2006	The association of SNP276G>T at adiponectin gene with circulating adiponectin and insulin resistance in response to mild weight loss		605441		CDC	2006	The SNP276G>T of the ADIPOQ gene is associated with different responses of circulating adiponectin and insulin resistance to mild weight loss in overweight-obese subjects.		weight loss									
143955	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Qi, L.  et al. 2006	16644713	-4034A-->C and +276G-->T			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Diabetes    2006    55(5)    1512-6	Adiponectin genetic variability, plasma adiponectin, and cardiovascular risk in patients with type 2 diabetes		605441		CDC	2006	ADIPOQ promoter polymorphism -11365C-->G was associated with plasma adiponectin levels, whereas polymorphisms -4034A-->C and +276G-->T were associated with CVD risk in diabetic patients.											
143956		left ventricular mass	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Obesity	3	3q27	ADIPOQ	188043156	188058946		Iacobellis, G.  et al. 2006	16648605				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Obesity (Silver Spring)    2006    14(3)    368-72	Left ventricular mass and +276 g/g single nucleotide polymorphism of the adiponectin gene in uncomplicated obesity		605441		CDC	2006												
143957		hormone disturbance polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Escobar-Morreale, H. F.  et al. 2006	16675483				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Hum Reprod    2006	Adiponectin and resistin in PCOS		605441		CDC	2006	PCOS patients present with hypoadiponectinaemia, in relation with abdominal adiposity and hyperandrogenism.											
143958	Y	adiponectin hypertension plasminogen activator inhibitor-1	METABOLIC	MET	Hypertension	3	3q27	ADIPOQ	188043156	188058946		Jeng, J. R.  et al. 2006	16741355				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Cardiology    2006    107(1)    30-37	Plasma Adiponectin, T94G Gene Polymorphism and PAI-1 in Patients with and without Hypertension		605441		CDC	2006	The present study demonstrated a significant correlation of the TT genotype with lower plasma adiponectin and higher plasma PAI-1 levels in a Chinese population. The contribution of this genotype seemed greater in men and normotensives. It suggested the adiponectin gene T94G polymorphism might affect the regulation of circulating adiponectin and PAI-1.											
143959	Y	glucose tolerance hyperglycemia	METABOLIC	MET	Glucose Intolerance	3	3q27	ADIPOQ	188043156	188058946		Tso, A. W.  et al. 2006	16788799				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Japanese;Chinese;Indian;Pima Indians		CDC GDP info	9370	Hs.80485			Diabetologia    2006	Polymorphisms of the gene encoding adiponectin and glycaemic outcome of Chinese subjects with impaired glucose tolerance		605441		CDC	2006	 Our findings support a significant role of this common ADIPOQ gene polymorphism in predicting glycaemic status in southern Chinese people.											
143960	Y	adiponectin	METABOLIC	MET	Diabetes Mellitus, Type 2|Disease Progression	3	3q27	ADIPOQ	188043156	188058946		Schwarz, P. E.  et al. 2006	16801592			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Diabetes Care    2006    29(7)    1645-50	Hypoadiponectinemia Is Associated With Progression Toward Type 2 Diabetes and Genetic Variation in the ADIPOQ Gene Promoter		605441		CDC	2006	We present data that gene variants in the ADIPOQ promoter region are associated with variations in adiponectin levels and thus with future type 2 diabetes and disease progression.											
143961	Y	adiponectin insulin	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Buzzetti, R.  et al. 2006	16801926				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Int J Obes (Lond)    2006	The glucose clamp reveals an association between adiponectin gene polymorphisms and insulin sensitivity in obese subjects		605441		CDC	2006												
143962		blood pressure, arterial cholesterol cholesterol, HDL cholesterol, LDL dyslipidemia retinopathy, diabetic triglycerides	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Dyslipidemias	3	3q27	ADIPOQ	188043156	188058946		Zietz, B.  et al. 2006	16896567				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	German		CDC GDP info	9370	Hs.80485			Med Klin (Munich)    2006    101(8)    605-16	Candidate genes and polymorphism analysis in type 2 diabetes mellitus.		605441		CDC	2006	An accumulation of certain genotypes of candidate genes for diabetes mellitus type 2 is associated with the severity of dyslipidemia and microvascular late complications, e.											
143963	N	anorexia nervosa obesity	PSYCH	PSY	Obesity|Anorexia Nervosa	3	3q27	ADIPOQ	188043156	188058946		Dolinkova, M.  et al. 2006	16921786	45T > G a 276T > G of ADP g			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Cas Lek Cesk    2006    145(7)    562-6	Polymorphisms of adiponectin and resistin genes in patients with obesity and anorexia nervosa		605441		CDC	2006	Polymorphisms 45T > G a 276T > G of ADP gene and 62G>A and -180C > G RETN gene did not influence serum ADP and RETN concentrations. BMI was influenced by T allele presence in 276 position of ADP gene in control group only. Anorexia nervosa patients had higher frequency of G allele of RETN -180 polymorphism compared to healthy women.											
143964	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Jung, C. H.  et al. 2006	16926524				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Endocr J    2006	Associations between Two Single Nucleotide Polymorphisms of Adiponectin Gene and Coronary Artery Diseases		605441		CDC	2006												
143965	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 2	3	3q27	ADIPOQ	188043156	188058946		Schwarz, P. E.  et al. 2006	16933180			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian;German		CDC GDP info	9370	Hs.80485			Horm Metab Res    2006    38(7)    447-451	Haplotypes in the Promoter Region of the ADIPOQ Gene are Associated with Increased Diabetes Risk in a German Caucasian Population		605441		CDC	2006												
143966	N	blood pressure, arterial body mass cholesterol, HDL hypertension obesity	CARDIOVASCULAR	CARD	Hypertension|Obesity	3	3q27	ADIPOQ	188043156	188058946		Yan, W. L.  et al. 2006	16944773				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Biomed Environ Sci    2006    19(3)    179-84	Common SNPs of APM1 gene are not associated with hypertension or obesity in Chinese population		605441		CDC	2006												
143968	Y	myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Ischemia	3	3q27	ADIPOQ	188043156	188058946		Hegener, H. H.  et al. 2006	16990411				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian	United States	CDC GDP info	9370	Hs.80485			Clin Chem    2006	Association of Adiponectin Gene Variations with Risk of Incident Myocardial Infarction and Ischemic Stroke		605441		CDC	2006	The present prospective investigation provides further evidence for a protective role of adiponectin gene variation in the risk of ischemic stroke that was independent of the presence of diabetes.											
143969		adiponectin glucose tolerance insulin triglycerides	METABOLIC	MET	Insulin Resistance|Obesity	3	3q27	ADIPOQ	188043156	188058946		Petrone, A.  et al. 2006	17030959			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Obesity (Silver Spring)    2006    14(9)    1498-504	The promoter region of the adiponectin gene is a determinant in modulating insulin sensitivity in childhood obesity		605441		CDC	2006												
143970		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Coronary Disease|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Obesity	3	3q27	ADIPOQ	188043156	188058946		Vionnet, N.  et al. 2006	17065357				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Diabetes    2006    55(11)    3166-74	Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations		605441		CDC	2006												
143971		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Santos, J. L.  et al. 2006	17080261				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	European		CDC GDP info	9370	Hs.80485			Eur J Nutr    2006	Genotype-by-nutrient interactions assessed in European obese women		605441		CDC	2006	Although the use of obese-only samples is theoretically a useful approach to detect interactions, few genotype-by-nutrient interactions have been suggested in obese European women after the analysis of candidate polymorphisms and the selected nutrient variables. The most remarkable multiplicative interaction found in this study refers to the combination of the hepatic lipase gene polymorphism -514 C > T and fibre intake.		diet									
143972		inflammatory markers	IMMUNE	IMM		3	3q27	ADIPOQ	188043156	188058946		Jang, Y.  et al. 2006	17113059				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Korean		CDC GDP info	9370	Hs.80485			Clin Chim Acta    2006	Effect of the 252A>G polymorphism of the lymphotoxin-alpha gene on inflammatory markers of response to cigarette smoking in Korean healthy men		605441		CDC	2006	Our results suggest that the LTA 252A>G polymorphism may modulate the inflammatory effects and oxidative stress of smoking. The detrimental effect of smoking is most clearly seen in men with G/G, suggesting a genotype-specific interaction with smoking.		smoking (tobacco)									
143973	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Nishihama, K.  et al. 2007	17143557				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		605441		CDC	2007			diabetes hypercholesterolemia hypertension									
143974	Y	diabetes, type 1 diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	3	3q27	ADIPOQ	188043156	188058946		Ma, J.  et al. 2007	17189871	ADIPOQ    +45G15G(T/G) and +276(G/T)			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Swedish;Caucasian		CDC GDP info	9370	Hs.80485			J Diabetes Complications    2007    21(1)    28-33	Genetic association analysis of the adiponectin polymorphisms in type 1 diabetes with and without diabetic nephropathy		605441		CDC	2007	The present study thus suggests that SNPs +45G15G(T/G) and +276(G/T) in the ACDC gene are associated with T1D but not with DN among Swedish Caucasians.											
143975	Y	body mass metabolic rate	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Loos, R. J.  et al. 2007	17209173	ADIPOQ 45T-->G			adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Am J Clin Nutr    2007    85(1)    26-34	Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study		605441		CDC	2007	Previous findings that the ADIPOQ 45T-->G variant contributes to overall fatness and abdominal obesity are confirmed. Moreover, variants in the promoter region of both ADIPOR genes contribute to substrate oxidation.		obesity									
143976		cardiovascular disease diabetes, type 2	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Gable, D. R.  et al. 2007	17222292				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Ann Hum Genet    2007	Common Adiponectin Gene Variants Show Different Effects on Risk of Cardiovascular Disease and Type 2 Diabetes in European Subjects		605441		CDC	2007			obesity									
143977	N	bone density	METABOLIC	MET		3	3q27	ADIPOQ	188043156	188058946		Zhang, Z. L.  et al. 2007	17241533				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Acta Pharmacol Sin    2007    28(2)    287-95	Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families		605441		CDC	2007	Our findings suggest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women.											
143978	Y	atherosclerosis, generalized body fat	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Katsuda, Y.  et al. 2007	17332688				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2		Japan	CDC GDP info	9370	Hs.80485			J Atheroscler Thromb    2007    14(1)    19-26	Association of Genetic Variation of the Adiponectin gene with Body Fat Distribution and Carotid Atherosclerosis in Japanese Obese Subjects		605441		CDC	2007	These results suggest that the G allele could be a risk factor of metabolic syndrome and the development of atherosclerosis in Japanese obese subjects.											
143979		adiponectin atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Hoefle, G.  et al. 2007	17334513			promoter	adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Thromb Haemost    2007    97(3)    451-7	The -11377 C > G promoter variant of the adiponectin gene, prevalence of coronary atherosclerosis, and incidence of vascular events in men		605441		CDC	2007												
143981	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	3	3q27	ADIPOQ	188043156	188058946		Shaat, N.  et al. 2007	17342473				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Scandinavian		CDC GDP info	9370	Hs.80485			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		605441		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
143982		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Olckers, A.  et al. 2007	17445531				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	South African		CDC GDP info	9370	Hs.80485			Metabolism    2007    56(5)    587-92	Protective effect against type 2 diabetes mellitus identified within the ACDC gene in a black South African diabetic cohort		605441		CDC	2007												
143984		adiponectin cholesterol, VLDL glucose triglycerides	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Inflammation	1	1p36.13-q41	ADIPOR1	201176575	201194323		Broedl, U. C.  et al. 2006	16700915				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	German		CDC GDP info	51094	Hs.5298			Cardiovasc Diabetol    2006    5(1)    11	Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome		607945		CDC	2006	To our knowledge, this is the first study to identify an association between genetic variants of the adiponectin receptor genes and plasma adiponectin levels.											
143985	Y	body mass insulin	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	1	1p36.13-q41	ADIPOR1	201176575	201194323		Siitonen, N.  et al. 2006	16724230				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	Finnish		CDC GDP info	51094	Hs.5298			Diabetologia    2006	Association of sequence variations in the gene encoding adiponectin receptor 1 (ADIPOR1) with body size and insulin levels. The Finnish Diabetes Prevention Study		607945		CDC	2006	 Our findings suggest that ADIPOR1 has a putative role in the development of body size, and that traits for central adiposity and insulin resistance may be dissociated from each other.											
143986		insulin triglycerides	METABOLIC	MET	Insulin Resistance	1	1p36.13-q41	ADIPOR1	201176575	201194323		Richardson, D. K.  et al. 2006	16955209				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	Mexican;Mexican American		CDC GDP info	51094	Hs.5298			Diabetologia    2006    49(10)    2317-28	Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans		607945		CDC	2006	 These results provide evidence for association of SNPs in ADIPOQ and its receptors with multiple IRS-related phenotypes. Specifically, several genetic variants in ADIPOR2 were strongly associated with decreased triglyceride levels.											
143987	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2	1	1p36.13-q41	ADIPOR1	201176575	201194323		Soccio, T.  et al. 2006	17003341				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	Italian		CDC GDP info	51094	Hs.5298			Diabetes    2006    55(10)    2763-70	Common Haplotypes at the Adiponectin Receptor 1 (ADIPOR1) Locus Are Associated With Increased Risk of Coronary Artery Disease in Type 2 Diabetes		607945		CDC	2006												
143988		body mass metabolic rate	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	1	1p36.13-q41	ADIPOR1	201176575	201194323		Loos, R. J.  et al. 2007	17209173				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2			CDC GDP info	51094	Hs.5298			Am J Clin Nutr    2007    85(1)    26-34	Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study		607945		CDC	2007	Previous findings that the ADIPOQ 45T-->G variant contributes to overall fatness and abdominal obesity are confirmed. Moreover, variants in the promoter region of both ADIPOR genes contribute to substrate oxidation.		obesity									
143989	N	diabetes, type 2 glucose tolerance insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	1	1p36.13-q41	ADIPOR1	201176575	201194323		Collins, S. C.  et al. 2007	17216283				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2			CDC GDP info	51094	Hs.5298			Diabetologia    2007	Adiponectin receptor genes		607945		CDC	2007	 Genetic variation in ADIPOR1 and ADIPOR2 is not a major cause of extreme insulin resistance in humans, nor does it contribute in a significant manner to type 2 diabetes risk and related traits in UK Europid populations.											
143990	Y	blood pressure, arterial diabetes, type 2 insulin	CARDIOVASCULAR	CARD		1	1p36.13-q41	ADIPOR1	201176575	201194323		Hu, C.  et al. 2007	17285539				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2			CDC GDP info	51094	Hs.5298			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    27-30	Relationship between adiponectin receptor 1 gene -3881T/C variant and glucose metabolism in the Chinese.		607945		CDC	2007	These findings suggest that variant of ADIPOR1 plays a role in glucose metabolism and insulin resistance in the Chinese.											
143991	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.13-q41	ADIPOR1	201176575	201194323		Qi, L.  et al. 2007	17416799				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2			CDC GDP info	51094	Hs.5298			Diabetes    2007	Variations in adiponectin receptor genes and susceptibility to type 2 diabetes in women		607945		CDC	2007	our data indicate significant associations between ADIPOR1 haplotypes and diabetes risk but do not support a relation between ADIPOR2 variability and the disease.											
143992	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12p13.31	ADIPOR2	1670507	1768106		Vaxillaire, M.  et al. 2006	16505255				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2	Caucasian;French		CDC GDP info	79602	Hs.371642			Diabetes    2006    55(3)    856-61	Genetic Analysis of ADIPOR1 and ADIPOR2 Candidate Polymorphisms for Type 2 Diabetes in the Caucasian Population		607946		CDC	2006	our data suggest a modest contribution of ADIPOR2 variants in diabetes risk in the French population.											
143993		adiponectin cholesterol, VLDL glucose triglycerides	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Inflammation	12	12p13.31	ADIPOR2	1670507	1768106		Broedl, U. C.  et al. 2006	16700915				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2	German		CDC GDP info	79602	Hs.371642			Cardiovasc Diabetol    2006    5(1)    11	Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome		607946		CDC	2006	To our knowledge, this is the first study to identify an association between genetic variants of the adiponectin receptor genes and plasma adiponectin levels.											
143994	N	body mass insulin	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	12	12p13.31	ADIPOR2	1670507	1768106		Siitonen, N.  et al. 2006	16724230				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2	Finnish		CDC GDP info	79602	Hs.371642			Diabetologia    2006	Association of sequence variations in the gene encoding adiponectin receptor 1 (ADIPOR1) with body size and insulin levels. The Finnish Diabetes Prevention Study		607946		CDC	2006	 Our findings suggest that ADIPOR1 has a putative role in the development of body size, and that traits for central adiposity and insulin resistance may be dissociated from each other.											
143995	Y	insulin triglycerides	METABOLIC	MET	Insulin Resistance	12	12p13.31	ADIPOR2	1670507	1768106		Richardson, D. K.  et al. 2006	16955209				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2	Mexican;Mexican American		CDC GDP info	79602	Hs.371642			Diabetologia    2006    49(10)    2317-28	Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans		607946		CDC	2006	 These results provide evidence for association of SNPs in ADIPOQ and its receptors with multiple IRS-related phenotypes. Specifically, several genetic variants in ADIPOR2 were strongly associated with decreased triglyceride levels.											
143996		body mass metabolic rate	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	12	12p13.31	ADIPOR2	1670507	1768106		Loos, R. J.  et al. 2007	17209173				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2			CDC GDP info	79602	Hs.371642			Am J Clin Nutr    2007    85(1)    26-34	Adiponectin and adiponectin receptor gene variants in relation to resting metabolic rate, respiratory quotient, and adiposity-related phenotypes in the Quebec Family Study		607946		CDC	2007	Previous findings that the ADIPOQ 45T-->G variant contributes to overall fatness and abdominal obesity are confirmed. Moreover, variants in the promoter region of both ADIPOR genes contribute to substrate oxidation.		obesity									
143997	N	diabetes, type 2 glucose tolerance insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	12	12p13.31	ADIPOR2	1670507	1768106		Collins, S. C.  et al. 2007	17216283				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2			CDC GDP info	79602	Hs.371642			Diabetologia    2007	Adiponectin receptor genes		607946		CDC	2007	 Genetic variation in ADIPOR1 and ADIPOR2 is not a major cause of extreme insulin resistance in humans, nor does it contribute in a significant manner to type 2 diabetes risk and related traits in UK Europid populations.											
143998	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12p13.31	ADIPOR2	1670507	1768106		Qi, L.  et al. 2007	17416799				Adiponectin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024551.2			CDC GDP info	79602	Hs.371642			Diabetes    2007	Variations in adiponectin receptor genes and susceptibility to type 2 diabetes in women		607946		CDC	2007	our data indicate significant associations between ADIPOR1 haplotypes and diabetes risk but do not support a relation between ADIPOR2 variability and the disease.											
143999	Y	blood pressure, arterial urinary sodium	CARDIOVASCULAR	CARD		11	11p15.4	ADM	10283206	10285499		Li, Y.  et al. 2006	16609682				Adrenomedullin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001124.1			CDC GDP info	133	Hs.441047			Kidney Int    2006    69(7)    1153-8	Blood pressure and urinary sodium excretion in relation to the A-1984G adrenomedullin polymorphism in a Chinese population		103275		CDC	2006	in Chinese, the ADM -1984G allele is associated with lower sodium excretion and in older subjects also with lower systolic pressure and narrower pulse pressure.											
144001		anxiety response	PHARMACOGENOMIC	PHARM		1	1q32.1	ADORA1	201363458	201403156		Hohoff, C.  et al. 2005	16118787				Adenosine A1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000674.1			CDC GDP info	134	Hs.77867			Am J Med Genet B Neuropsychiatr Genet    2005    139(1)    42-4	Interindividual variation in anxiety response to amphetamine		102775		CDC	2005			amphetamine									
144002		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		22	22q11.23	ADORA2A	23143708	23168325		Comings, D. E.  et al. 2000	11140838				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		102776		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144004		mood disorder	PSYCH	PSY	Genetic Predisposition to Disease|Mood Disorders	22	22q11.23	ADORA2A	23143708	23168325		Tsai, S. J.  et al. 2006	16969271				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Psychiatr Genet    2006    16(5)    185	Association study of adenosine A2a receptor (1976C>T) genetic polymorphism and mood disorders and age of onset		102776		CDC	2006												
144005	Y	migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Genetic Predisposition to Disease	22	22q11.23	ADORA2A	23143708	23168325		Hohoff, C.  et al. 2007	17257240				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Cephalalgia    2007    27(2)    177-81	An adenosine A(2A) receptor gene haplotype is associated with migraine with aura		102776		CDC	2007												
144006		sleep disorders	OTHER	OTH		22	22q11.23	ADORA2A	23143708	23168325		Retey, J. V.  et al. 2007	17329997				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Clin Pharmacol Ther    2007	A Genetic Variation in the Adenosine A(2A) Receptor Gene (ADORA2A) Contributes to Individual Sensitivity to Caffeine Effects on Sleep		102776		CDC	2007			caffeine									
144007	Y	caffeine consumption	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	22	22q11.23	ADORA2A	23143708	23168325		Cornelis, M. C.  et al. 2007	17616786	ADORA2A 1083TT			Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Am J Clin Nutr    2007    86(1)    240-4	Genetic polymorphism of the adenosine A2A receptor is associated with habitual caffeine consumption		102776		CDC	2007	Our findings show that the probability of having the ADORA2A 1083TT genotype decreases as habitual caffeine consumption increases.		caffeine diet smoking (tobacco)									
144010	N	blood pressure, arterial heart rate left ventricular mass	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8p21-p11.2	ADRA1A	26661583	26778839		Iacoviello, M.  et al. 2006	16645408				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			J Cardiovasc Med (Hagerstown)    2006    7(5)    316-21	Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring		104219		CDC	2006			family history									
144011	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p21-p11.2	ADRA1A	26661583	26778839		Gu, D.  et al. 2006	16685204				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			J Hypertens    2006    24(6)    1057-1064	Association of alpha1A adrenergic receptor gene variants on chromosome 8p21 with human stage 2 hypertension		104219		CDC	2006	Our findings suggest that the genetic variations in the ADRA1A gene are significantly associated with essential hypertension, and may play an important role in the development of essential hypertension in this Chinese population.											
144012		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	8	8p21-p11.2	ADRA1A	26661583	26778839		Tan, E. K.  et al. 2006	16823803				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			Am J Med Genet B Neuropsychiatr Genet    2006	Exploring an interaction of adenosine A2A receptor variability with coffee and tea intake in Parkinson's disease		104219		CDC	2006			caffeine coffee tea									
144013		autonomic nervous system function	NEUROLOGICAL	NEUR		8	8p21-p11.2	ADRA1A	26661583	26778839		Matsunaga, T.  et al. 2006	17075692				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			J Hum Genet    2006	Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population		104219		CDC	2006												
144014	N	schizophrenia	PSYCH	PSY		8	8p21-p11.2	ADRA1A	26661583	26778839		Huang, K.  et al. 2007	17408692			promoter	Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			J Psychiatr Res    2007	No association found between the promoter variants of ADRA1A and schizophrenia in the Chinese population		104219		CDC	2007												
144015	N	blood pressure, arterial heart rate left ventricular mass	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q23-q32	ADRA1B	159276317	159332595		Iacoviello, M.  et al. 2006	16645408				Adrenergic, alpha-1B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000679.3			CDC GDP info	147	Hs.368632			J Cardiovasc Med (Hagerstown)    2006    7(5)    316-21	Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring		104220		CDC	2006			family history									
144017		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		10	10q24-q26	ADRA2A	112826910	112830560		Comings, D. E.  et al. 2000	11140838				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		104210		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144018	N	dyspepsia	OTHER	OTH	Dyspepsia	10	10q24-q26	ADRA2A	112826910	112830560		Camilleri, C. E.  et al. 2006	16464220				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		104210		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
144019		blood pressure, arterial heart rate norepinephrine	CARDIOVASCULAR	CARD		10	10q24-q26	ADRA2A	112826910	112830560		Kurnik, D.  et al. 2006	16513442				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Clin Pharmacol Ther    2006    79(3)    173-85	Variations in the alpha(2A)-adrenergic receptor gene and their functional effects		104210		CDC	2006	We describe novel variants and the haplotype structure of the ADRA2A gene.											
144021		aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	10	10q24-q26	ADRA2A	112826910	112830560		Li, J. L.  et al. 2006	16636200				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Hypertension    2006	Do Allelic Variants in {alpha}2A and {alpha}2C Adrenergic Receptors Predispose to Hypertension in Blacks?		104210		CDC	2006												
144023	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Schmitz, M.  et al. 2006	16806103				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Biol Psychiatry    2006	Association Between Alpha-2a-adrenergic Receptor Gene and ADHD Inattentive Type		104210		CDC	2006	Our results suggest that the ADRA2A may be associated with ADHD-I, replicating previous findings from clinical samples that have suggested the importance of this gene for the dimension of inattention. In addition, these results support the role of the noradrenergic system in ADHD.											
144024		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q24-q26	ADRA2A	112826910	112830560		Tan, E. K.  et al. 2006	16823803				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Am J Med Genet B Neuropsychiatr Genet    2006	Exploring an interaction of adenosine A2A receptor variability with coffee and tea intake in Parkinson's disease		104210		CDC	2006			caffeine coffee tea									
144026		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Waldman, I. D.  et al. 2006	16869226				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Cogn Affect Behav Neurosci    2006    6(1)    18-30	The adrenergic receptor alpha-2A gene (ADRA2A) and neuropsychological executive functions as putative endophenotypes for childhood ADHD		104210		CDC	2006												
144027		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Deupree, J. D.  et al. 2006	16917924				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Am J Med Genet B Neuropsychiatr Genet    2006	Possible involvement of alpha-2A adrenergic receptors in attention deficit hyperactivity disorder		104210		CDC	2006												
144028	N	schizophrenia	PSYCH	PSY	Schizophrenia	10	10q24-q26	ADRA2A	112826910	112830560		Clark, D. A.  et al. 2006	17034020				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Am J Med Genet B Neuropsychiatr Genet    2006	No association between ADRA2A polymorphisms and schizophrenia		104210		CDC	2006												
144029		autonomic nervous system function	NEUROLOGICAL	NEUR		10	10q24-q26	ADRA2A	112826910	112830560		Matsunaga, T.  et al. 2006	17075692				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			J Hum Genet    2006	Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population		104210		CDC	2006												
144030		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRA2A	112826910	112830560		Rana, B. K.  et al. 2006	17159089				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Hypertension    2006	Population-Based Sample Reveals Gene-Gender Interactions in Blood Pressure in White Americans		104210		CDC	2006												
144031	Y	attention deficit hyperactivity disorder	PHARMACOGENOMIC	PHARM	Attention Deficit Disorder with Hyperactivity	10	10q24-q26	ADRA2A	112826910	112830560		Polanczyk, G.  et al. 2007	17283289	ADRA2A -1291 C>G			Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2		Brazil	CDC GDP info	150	Hs.249159			Arch Gen Psychiatry    2007    64(2)    218-224	Association of the Adrenergic {alpha}2A Receptor Gene With Methylphenidate Improvement of Inattentive Symptoms in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder		104210		CDC	2007	We documented the effect of the G allele at the ADRA2A -1291 C>G polymorphism on the improvement of inattentive symptoms with methylphenidate treatment in children and adolescents with ADHD. Our findings provide clinical evidence for the involvement of the noradrenergic system in the modulation of methylphenidate action.		methyphenidate									
144034		alcohol dependence smoking behavior	CHEMDEPENDENCY	CHEM		10	10q24-q26	ADRA2A	112826910	112830560		Prestes, A. P.  et al. 2007	17612790				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2	Brazilian;European		CDC GDP info	150	Hs.249159			J Neural Transm    2007	Tobacco smoking and the ADRA2A C-1291G polymorphism		104210		CDC	2007												
144035		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		2	2p13-q13	ADRA2B	96142349	96145615		Comings, D. E.  et al. 2000	11140838				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		104260		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144036	N	blood pressure, arterial heart rate left ventricular mass	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p13-q13	ADRA2B	96142349	96145615		Iacoviello, M.  et al. 2006	16645408				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			J Cardiovasc Med (Hagerstown)    2006    7(5)    316-21	Alpha- and beta-adrenergic receptor polymorphisms in hypertensive and normotensive offspring		104260		CDC	2006			family history									
144037	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	2	2p13-q13	ADRA2B	96142349	96145615		Manolis, A. S.  et al. 2006	16776624				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Greek		CDC GDP info	151	Hs.247686			Clin Chem Lab Med    2006    44(7)    807-12	Lack of association between alpha(2B)-adrenergic receptor polymorphism and risk of restenosis following coronary angioplasty and stent implantation - preliminary report		104260		CDC	2006	In the population studied, alpha(2B)-adrenoreceptor polymorphisms were not found to predispose patients to an increased incidence of restenosis. Nevertheless, these findings should be considered as preliminary, taking into account the small number of patients that were studied and the rarity of the deletion/deletion genotype.											
144038	Y	heart rate	CARDIOVASCULAR	CARD	Hypertension	2	2p13-q13	ADRA2B	96142349	96145615		Wilk, J. B.  et al. 2006	16907703				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			Ann Hum Genet    2006    70(5)    566-573	Adrenergic Receptor Polymorphisms Associated with Resting Heart Rate		104260		CDC	2006	each of the ADR gene polymorphisms was associated with heart rate in at least one stratum studied, but there was no consistent association from which one would infer a large genetic contribution to heart rate.											
144039	Y	diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	2	2p13-q13	ADRA2B	96142349	96145615		Papazoglou, D.  et al. 2006	17039423				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			Exp Clin Endocrinol Diabetes    2006    114(8)    424-7	An Insertion/Deletion Polymorphism in the alpha2B Adrenoceptor Gene is Associated with Age at Onset of Type 2 Diabetes Mellitus		104260		CDC	2006												
144040		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p13-q13	ADRA2B	96142349	96145615		Laaksonen, D. E.  et al. 2007	17277585				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Finnish		CDC GDP info	151	Hs.247686			Med Sci Sports Exerc    2007    39(2)    227-232	Physical Activity, Diet, and Incident Diabetes in Relation to an ADRA2B Polymorphism		104260		CDC	2007	Increased LTPA decreased the risk of type 2 diabetes more in those with the 12Glu allele of the ADRA2B gene, whereas dietary changes may have mediated the greater risk reduction of the lifestyle intervention in 9Glu homozygotes.		diet physical activity weight loss									
144041		diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 2	2	2p13-q13	ADRA2B	96142349	96145615		Papanas, N.  et al. 2007	17516297				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4	Greek		CDC GDP info	151	Hs.247686			Exp Clin Endocrinol Diabetes    2007    115(5)    327-30	An Insertion/Deletion Polymorphism in the Alpha2B Adrenoceptor Gene is Associated with Peripheral Neuropathy in Patients with Type 2 Diabetes Mellitus		104260		CDC	2007	Patients with neuropathy exhibit a significantly higher frequency of the D allele in comparison to those without neuropathy.											
144043		blood pressure, arterial	CARDIOVASCULAR	CARD		2	2p13-q13	ADRA2B	96142349	96145615		Ohlin, B.  et al. 2007	17620957				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			J Hypertens    2007    25(8)    1613-9	Job strain, decision latitude and alpha2B-adrenergic receptor polymorphism significantly interact, and associate with higher blood pressures in men		104260		CDC	2007	For the first time, a significant interaction between a genetic factor and work environment, resulting in elevated blood pressures, has been described.		stress									
144044		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		4	4p16	ADRA2C	3738093	3740051		Comings, D. E.  et al. 2000	11140838				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		104250		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144045		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	4	4p16	ADRA2C	3738093	3740051			16407897				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Neuropsychopharmacology    2006	Effects of a alpha(2C)-Adrenoreceptor Gene Polymorphism on Neural Responses to Facial Expressions in Depression		104250		CDC	2006												
144046	N	dyspepsia	OTHER	OTH	Dyspepsia	4	4p16	ADRA2C	3738093	3740051		Camilleri, C. E.  et al. 2006	16464220				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		104250		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
144049	N	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	4	4p16	ADRA2C	3738093	3740051		Shin, J.  et al. 2007	17223428				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		104250		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
144050	N	blood pressure, arterial epinephrine heart rate norepinephrine sympathetic activity	CARDIOVASCULAR	CARD		4	4p16	ADRA2C	3738093	3740051		Kurnik, D.  et al. 2007	17351367				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			J Hypertens    2007    25(4)    763-771	Effect of the alpha2C-adrenoreceptor deletion322-325 variant on sympathetic activity and cardiovascular measures in healthy subjects		104250		CDC	2007	The ADRA2C deletion polymorphism had no effect on markers of resting sympathetic activity and cardiovascular measures, and did not account for ethnic differences in blood pressure.											
144051	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4p16	ADRA2C	3738093	3740051		Bauters, C.  et al. 2007	17383306				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		104250		CDC	2007												
144052	Y	left ventricular ejection fraction	PHARMACOGENOMIC	PHARM	Heart Failure	4	4p16	ADRA2C	3738093	3740051		Lobmeyer, M. T.  et al. 2007	17496726				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Pharmacogenet Genomics    2007    17(4)    277-82	Synergistic polymorphisms of beta1 and alpha2C-adrenergic receptors and the influence on left ventricular ejection fraction response to beta-blocker therapy in heart failure		104250		CDC	2007	ADRB1 and ADRA2C polymorphisms synergistically influence the ejection fraction response to beta-blocker therapy of heart failure patients.		metoprolol									
144053		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		10	10q24-q26	ADRB1	115793795	115796657		Comings, D. E.  et al. 2000	11140838				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		109630		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144054		left ventricular ejection fraction troponin, cardiac	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Myocardial Stunning|Ventricular Dysfunction, Left	10	10q24-q26	ADRB1	115793795	115796657		Zaroff, J. G.  et al. 2006	16728691				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Stroke    2006	Adrenoceptor Polymorphisms and the Risk of Cardiac Injury and Dysfunction After Subarachnoid Hemorrhage		109630		CDC	2006	Genetic polymorphisms of the adrenoceptors are associated with an increased risk of cardiac abnormalities after SAH.											
144055	Y	heart rate	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Wilk, J. B.  et al. 2006	16907703				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Ann Hum Genet    2006    70(5)    566-573	Adrenergic Receptor Polymorphisms Associated with Resting Heart Rate		109630		CDC	2006	each of the ADR gene polymorphisms was associated with heart rate in at least one stratum studied, but there was no consistent association from which one would infer a large genetic contribution to heart rate.											
144057	N	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Shin, J.  et al. 2007	17223428				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		109630		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
144058	Y	heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Xie, Z.  et al. 2004	17270896				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Conf Proc IEEE Eng Med Biol Soc    2004    4    2948-51	Association of beta-adrenoceptor single nucleotide polymorphisms with resting heart rate		109630		CDC	2004												
144060		left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Meyers, K. J.  et al. 2007	17339538				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Hypertension    2007	Genetic Variations Associated With Echocardiographic Left Ventricular Traits in Hypertensive Blacks		109630		CDC	2007												
144061	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q24-q26	ADRB1	115793795	115796657		Bauters, C.  et al. 2007	17383306				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		109630		CDC	2007												
144062	Y	left ventricular ejection fraction	PHARMACOGENOMIC	PHARM	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Lobmeyer, M. T.  et al. 2007	17496726				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Pharmacogenet Genomics    2007    17(4)    277-82	Synergistic polymorphisms of beta1 and alpha2C-adrenergic receptors and the influence on left ventricular ejection fraction response to beta-blocker therapy in heart failure		109630		CDC	2007	ADRB1 and ADRA2C polymorphisms synergistically influence the ejection fraction response to beta-blocker therapy of heart failure patients.		metoprolol									
144063		obesity	METABOLIC	MET	Insulin Resistance|Obesity	10	10q24-q26	ADRB1	115793795	115796657		Lima, J. J.  et al. 2007	17512307				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Metabolism    2007    56(6)    757-65	Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations		109630		CDC	2007	common SNPs in adrenergic receptor genes may be important susceptibility loci for obesity and related alterations.											
144064	N	angina, unstable cardiac death cerebrovascular disease, ischemic congestive heart failure heart rate myocardial infarct	PHARMACOGENOMIC	PHARM	Cardiovascular Diseases|Cardiomyopathy, Dilated|Coronary Disease|Myocardial Infarction|Intraoperative Complications|Postoperative Complications	10	10q24-q26	ADRB1	115793795	115796657		Zaugg, M.  et al. 2007	17585213				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Anesthesiology    2007    107(1)    33-44	Adrenergic Receptor Genotype but Not Perioperative Bisoprolol Therapy May Determine Cardiovascular Outcome in At-risk Patients Undergoing Surgery with Spinal Block		109630		CDC	2007	S:: Perioperative bisoprolol therapy did not affect cardiovascular outcome in these elderly at-risk patients undergoing surgery with spinal block.		bisoprolol									
144066		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Wu, H.  et al. 2001	11798553				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Zhonghua Nei Ke Za Zhi    2001    40(1)    22-4	Association of single nucleotide polymorphisms in code region of beta2-adrenoceptor gene with hypertension in Chinese population		109690		CDC	2001	These results indicate that the SNPs at locus + 1239 of beta(2)-AR gene is associated with EH. The SNPs at position + 1053 was not linked to hypertension.											
144068	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q31-q32	ADRB2	148186348	148188381			16420563				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		United States	CDC GDP info	154	Hs.591251			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		109690		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
144069		postural tachycardia syndrome	CARDIOVASCULAR	CARD	Tachycardia|Syndrome	5	5q31-q32	ADRB2	148186348	148188381		Jacob, G.  et al. 2006	16461848				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Hypertension    2006	{beta}2-Adrenoceptor Genotype and Function Affect Hemodynamic Profile Heterogeneity in Postural Tachycardia Syndrome		109690		CDC	2006												
144070	Y	cholesterol, LDL	METABOLIC	MET		5	5q31-q32	ADRB2	148186348	148188381		Li, N. F.  et al. 2005	16563272	Gly16/Gly genotype of beta-2-AR gene +46 A-->G			Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Zhonghua Xin Xue Guan Bing Za Zhi    2005    33(12)    1071-4	The relationship between the beta-2-adrenergic receptor gene +46 Arg 16/Gly variant and serum level of low density lipoprotein-cholesterol in Kazakans of Xinjiang		109690		CDC	2005	These data show that Gly16/Gly genotype of beta-2-AR gene +46 A-->G variant is associated with$$$ higher level of serum LDL-C in this population, especially in female.											
144072		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Suh, I.  et al. 2006	16615274				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Korean		CDC GDP info	154	Hs.591251			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		109690		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
144073		hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Gu, D.  et al. 2006	16636198				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Hypertension    2006	Association Study With 33 Single-Nucleotide Polymorphisms in 11 Candidate Genes for Hypertension in Chinese		109690		CDC	2006												
144074		left ventricular ejection fraction troponin, cardiac	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Myocardial Stunning|Ventricular Dysfunction, Left	5	5q31-q32	ADRB2	148186348	148188381		Zaroff, J. G.  et al. 2006	16728691				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Stroke    2006	Adrenoceptor Polymorphisms and the Risk of Cardiac Injury and Dysfunction After Subarachnoid Hemorrhage		109690		CDC	2006	Genetic polymorphisms of the adrenoceptors are associated with an increased risk of cardiac abnormalities after SAH.											
144075	N	body mass energy metabolism	METABOLIC	MET	Obesity	5	5q31-q32	ADRB2	148186348	148188381		Rosado, E. L.  et al. 2006	16771114				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Nutr Hosp    2006    21(3)    317-31	Effect of diet and PPARgamma2 and beta2-adrenergic receptor genes on energy metabolism and body composition in obese women		109690		CDC	2006	Polymorphism in PPARgamma2 gene resulted in increased fat oxidation, regardless of genotype of beta2-adrenergic receptor gene. It is recommended control of the total intake of fats and SFA in Pro12Pro/Gln27Gln and Pro12Pro/Gln27Glu, and complex CHO and MUFA in Pro12Pro/Glu27Glu. In Pro12Ala/Gln27Glu, AGPI intake can result in greater body weight loss.		diet									
144076		high-altitude tolerance	OTHER	OTH	Altitude Sickness	5	5q31-q32	ADRB2	148186348	148188381		Rajput, C.  et al. 2006	16893516				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		109690		CDC	2006												
144077	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5q31-q32	ADRB2	148186348	148188381		Brookes, K. et al  et al. 2006	16894395				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		109690		CDC	2006												
144080		cholesterol, HDL	METABOLIC	MET	Hyperlipoproteinemia Type II	5	5q31-q32	ADRB2	148186348	148188381		Dedoussis, G. V.  et al. 2006	17020471				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Genet Test    2006    10(3)    192-9	Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients		109690		CDC	2006												
144081	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	5	5q31-q32	ADRB2	148186348	148188381		Carmichael, S. L.  et al. 2006	17036337				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		109690		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
144082		allergic rhinitis asthma	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	5	5q31-q32	ADRB2	148186348	148188381		Cichy, M.  et al. 2005	17037286				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Folia Med Cracov    2005    46(1-2)    33-51	The functional relevance of Arg16Gly and Gln27Glu-beta2-adrenoreceptor polymorphism in patients with asthma and allergic rhinitis		109690		CDC	2005												
144083		diabetes, type 2 insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	5	5q31-q32	ADRB2	148186348	148188381		Grarup, N.  et al. 2006	17077128				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			J Clin Endocrinol Metab    2006	Studies of the common DIO2 Thr92Ala polymorphism and metabolic phenotypes in 7,342 Danish whites		109690		CDC	2006	The DIO2 Thr92Ala variant does not confer an increased risk of T2D, obesity, or insulin resistance.											
144085		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Pinelli, M.  et al. 2006	17150099				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			BMC Med Genet    2006    7(1)    85	beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus		109690		CDC	2006	Although our results should be confirmed by further studies, our data suggests that, when properly evaluated, it is possible to identify genetic factors that could influence the effect of common risk factors.		obesity									
144086		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Rana, B. K.  et al. 2006	17159089				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Hypertension    2006	Population-Based Sample Reveals Gene-Gender Interactions in Blood Pressure in White Americans		109690		CDC	2006												
144087	Y	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	5	5q31-q32	ADRB2	148186348	148188381		Shin, J.  et al. 2007	17223428				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		109690		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
144088		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	5	5q31-q32	ADRB2	148186348	148188381		Hu, C. J.  et al. 2007	17243909				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		Taiwan	CDC GDP info	154	Hs.591251			Clin Chem Lab Med    2007    45(1)    20-5	Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases		109690		CDC	2007	This community-based study reveals that genetic factors might play a role in the metabolism of lipids. The genetic risk for CVDs needs further investigation.											
144089	Y	preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Premature Birth|Infant, Premature, Diseases	5	5q31-q32	ADRB2	148186348	148188381		Gibson, C. S.  et al. 2007	17267840				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3		South Australia	CDC GDP info	154	Hs.591251			Obstet Gynecol    2007    109(2)    384-391	Genetic Polymorphisms and Spontaneous Preterm Birth		109690		CDC	2007	We confirm previous observations that variants of the beta adrenergic receptor and of nitric oxide synthase are associated with prematurity, and suggest that genetic variants of the placental antifibrinolytic plasminogen activator inhibitor-2, and thrombomodulin and alpha adducin may be contributors to risk of spontaneous preterm birth. LEVEL OF EVIDENCE: II											
144090		heart rate	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Xie, Z.  et al. 2004	17270896				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Conf Proc IEEE Eng Med Biol Soc    2004    4    2948-51	Association of beta-adrenoceptor single nucleotide polymorphisms with resting heart rate		109690		CDC	2004												
144091		cardiac death	CARDIOVASCULAR	CARD	Myocardial Ischemia	5	5q31-q32	ADRB2	148186348	148188381		Jaillon, P.  et al. 2007	17374341				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Therapie    2007    62(1)    1-7	Genetic polymorphism of Beta-adrenergic receptors and mortality in ischemic heart disease.		109690		CDC	2007												
144092	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q31-q32	ADRB2	148186348	148188381		Bauters, C.  et al. 2007	17383306				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		109690		CDC	2007												
144094		obesity	METABOLIC	MET	Insulin Resistance|Obesity	5	5q31-q32	ADRB2	148186348	148188381		Lima, J. J.  et al. 2007	17512307				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Metabolism    2007    56(6)    757-65	Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations		109690		CDC	2007	common SNPs in adrenergic receptor genes may be important susceptibility loci for obesity and related alterations.											
144095	Y	heart rate	CARDIOVASCULAR	CARD		5	5q31-q32	ADRB2	148186348	148188381		Niu, Y.  et al. 2007	17591269				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Sheng Wu Yi Xue Gong Cheng Xue Za Zhi    2007    24(2)    399-403	Association of beta-adrenoceptor gene polymorphism with resting heart rate		109690		CDC	2007												
144097			NORMALVARIATION	NV		8	8p12-p11.2	ADRB3	37939672	37943341		Hamajima, N.  et al. 2002	12164325				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		109691		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
144098	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	8	8p12-p11.2	ADRB3	37939672	37943341		Xin, X.  et al. 2006	16648810				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1		China	CDC GDP info	155	Hs.2549			Neuro Endocrinol Lett    2006    27(1-2)	Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls		109691		CDC	2006	Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.											
144099		body mass diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	8	8p12-p11.2	ADRB3	37939672	37943341		Fallucca, F.  et al. 2006	17046546				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Metabolism    2006    55(11)    1451-6	Polymorphisms of insulin receptor substrate 1 and beta(3)-adrenergic receptor genes in gestational diabetes and normal pregnancy		109691		CDC	2006			family history									
144101		heart rate	CARDIOVASCULAR	CARD		8	8p12-p11.2	ADRB3	37939672	37943341		Xie, Z.  et al. 2004	17270896				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Conf Proc IEEE Eng Med Biol Soc    2004    4    2948-51	Association of beta-adrenoceptor single nucleotide polymorphisms with resting heart rate		109691		CDC	2004												
144103	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	8	8p12-p11.2	ADRB3	37939672	37943341		Shaat, N.  et al. 2007	17342473				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1	Scandinavian		CDC GDP info	155	Hs.2549			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		109691		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
144104		obesity	METABOLIC	MET	Insulin Resistance|Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Lima, J. J.  et al. 2007	17512307				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Metabolism    2007    56(6)    757-65	Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations		109691		CDC	2007	common SNPs in adrenergic receptor genes may be important susceptibility loci for obesity and related alterations.											
144105	Y	heart rate	CARDIOVASCULAR	CARD		8	8p12-p11.2	ADRB3	37939672	37943341		Niu, Y.  et al. 2007	17591269				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Sheng Wu Yi Xue Gong Cheng Xue Za Zhi    2007    24(2)    399-403	Association of beta-adrenoceptor gene polymorphism with resting heart rate		109691		CDC	2007												
144107	N	cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	22	22q11|22q12.1	ADRBK2	24290945	24449916		Guindalini, C.  et al. 2007	17621168			promoter	Adrenergic, beta, receptor kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005160			CDC GDP info	157	Hs.657494			Psychiatr Genet    2007    17(4)    239-242	Association analysis of GRK3 gene promoter variants in cocaine abuse		109636		CDC	2007	our results do not support a major role for GRK3 gene promoter variants in cocaine addiction.											
144108	Y	alpha-fetoprotein	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms	4	4q11-q13	AFP	74515718	74540356		Chen, G. G.  et al. 2007	17433605			promoter	Alpha-fetoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC027881			CDC GDP info	174	Hs.518808			Eur J Surg Oncol    2007	Single nucleotide polymorphism in the promoter region of human alpha-fetoprotein (AFP) gene and its significance in hepatocellular carcinoma (HCC)		104150		CDC	2007	The novel polymorphisms identified in the promoter region of the AFP gene may be pathologically significant in HCC.											
144109	Y	myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Myocardial Infarction|Atherosclerosis	6	6p21.3	AGER	32256723	32260001		Zee, R. Y.  et al. 2006	16728681				Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3		United States	CDC GDP info	177	Hs.642645			Stroke    2006	Polymorphisms in the Advanced Glycosylation End Product-Specific Receptor Gene and Risk of Incident Myocardial Infarction or Ischemic Stroke		600214		CDC	2006	We found an association of specific AGER promoter gene haplotypes with reduced risk of incident myocardial infarction and ischemic stroke that was independent of the presence of diabetes.											
144110		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	6	6p21.3	AGER	32256723	32260001		Kankova, K.  et al. 2007	17345061				Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3			CDC GDP info	177	Hs.642645			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach		600214		CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
144111		diabetes, type 2	METABOLIC	MET		6	6p21.3	AGER	32256723	32260001		Gao, J. X.  et al. 2007	17355942				Advanced glycosylation end product-specific receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001136.3			CDC GDP info	177	Hs.642645			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(2)    219-22	Association of Gly82Ser polymorphism of receptor for advanced glycation end products gene in a type 2 diabetic Chinese population		600214		CDC	2007	Gly82Ser polymorphism of RAGE gene does not demonstrate any association with type 2 diabetes in Chinese patients, but high genotype and allele frequencies of Gly82Ser polymorphism occur in Chinese population and type 2 diabetic Chinese patients.											
144112		body mass leptin obesity, localized	METABOLIC	MET	Weight Gain|Overweight	16	16q22	AGRP	66073974	66075217		van Rossum, C. T.  et al. 2006	16568137				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1			CDC GDP info	181	Hs.104633			Int J Obes (Lond)    2006	Polymorphisms in the NPY and AGRP genes and body fatness in Dutch adults		602311		CDC	2006	The consistent findings among men suggest that the NPY Leu7Pro polymorphism (or another linked marker) might be involved in the development of obesity at younger ages.											
144114		atherosclerosis, generalized blood pressure, arterial cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Atherosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Burdon, K. P.  et al. 2006	16492203				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	African American;European		CDC GDP info	183	Hs.19383			Diabet Med    2006    23(3)    228-34	Association analysis of genes in the renin-angiotensin system with subclinical cardiovascular disease in families with Type 2 diabetes mellitus		106150		CDC	2006	Genetic variation of the RAS and NOS3 genes do not appear to strongly influence subclinical cardiovascular disease or blood pressure in this diabetic population.											
144115		hypertension obesity	CARDIOVASCULAR	CARD	Hypertension|Obesity	1	1q42-q43	AGT	228904891	228916564		Marco, J.  et al. 2005	16514903				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Nefrologia    2005    25(6)    629-36	Angiotensinogen gene T174M polymorphism		106150		CDC	2005			diabetes family history obesity									
144117	Y	dementia, vascular	PSYCH	PSY	Dementia, Vascular	1	1q42-q43	AGT	228904891	228916564		Kim, Y.  et al. 2006	16603315				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Neurosci Lett    2006	Sequence variants of ACE, AGT, AT1R, and PAI-1 as genetic risk factors for vascular dementia		106150		CDC	2006												
144118		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	1	1q42-q43	AGT	228904891	228916564		Wijpkema, J. S.  et al. 2006	16609364				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Pharmacogenet Genomics    2006    16(5)    331-337	Restenosis after percutaneous coronary intervention is associated with the angiotensin-II type-1 receptor 1166A/C polymorphism but not with polymorphisms of angiotensin-converting enzyme, angiotensin-II receptor, angiotensinogen or heme oxygenase-1		106150		CDC	2006	We could only establish a role for the AT1R 1166A/C polymorphism in restenosis after PCI. However, significant gene-gene interaction was suggested for the ACE gene and the HO-1 promotor. The RAS and HO-1 relation in restenosis merits further investigation.											
144119		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2	1	1q42-q43	AGT	228904891	228916564		Prasad, P.  et al. 2006	16672053				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Indian;Asian	India	CDC GDP info	183	Hs.19383			BMC Med Genet    2006    7(1)    42	Chronic renal insufficiency among Asian Indians with Type 2 diabetes		106150		CDC	2006	SNPs Met235Thr in angiotensinogen, T>C (-344) in aldosterone synthase, and G>A (-1903) in chymase genes are significantly associated with diabetic chronic renal insufficiency in Indian patients and warrant replication in larger sample sets. Use of such markers for prediction of susceptibility to diabetes specific renal disease in the ethnically Indian popula											
144120		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Hypertension|Chronic Disease	1	1q42-q43	AGT	228904891	228916564		Wang, L.  et al. 2006	16681991				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2		Boston	CDC GDP info	183	Hs.19383			Am J Obstet Gynecol    2006    195(1)    162-71	Prolylcarboxypeptidase gene, chronic hypertension, and risk of preeclampsia		106150		CDC	2006	Our data showed that prolylcarboxypeptidase D allele coupled with chronic hypertension was associated with a significantly increased risk of preeclampsia in both black and non-black women. Gene expression assays lent further support for the functional significance of prolylcarboxypeptidase in the etiology of preeclampsia.		blood pressure									
144121		blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	1	1q42-q43	AGT	228904891	228916564		Schelleman, H.  et al. 2006	16724011				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Eur J Hum Genet    2006	The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure		106150		CDC	2006			ACE inhibitor beta blockers calcium channel blocker diuretic therapy									
144122		suicide	PSYCH	PSY		1	1q42-q43	AGT	228904891	228916564		Hishimoto, A.  et al. 2006	16736244				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			J Neural Transm    2006	Association between a functional polymorphism in the renin-angiotensin system and completed suicide		106150		CDC	2006												
144124		high-altitude tolerance	OTHER	OTH	Altitude Sickness	1	1q42-q43	AGT	228904891	228916564		Rajput, C.  et al. 2006	16893516				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		106150		CDC	2006												
144126	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Acromegaly|Hypertension	1	1q42-q43	AGT	228904891	228916564		Mulatero, P.  et al. 2006	17003099				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			J Clin Endocrinol Metab    2006	CYP11B2 -344T/C GENE POLYMORPHISM AND BLOOD PRESSURE IN PATIENTS WITH ACROMEGALY		106150		CDC	2006	We have shown an association of the -344T/C CYP11B2 gene polymorphism with BP in patients affected by acromegaly. These findings suggest that the RAAS is implicated in the pathogenesis of hypertension in acromegaly.											
144127	N	angiotensinogen hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Skov, K.  et al. 2006	17083073				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Caucasian	Denmark	CDC GDP info	183	Hs.19383			J Renin Angiotensin Aldosterone Syst    2006    7(1)    47-55	Renal Haemodynamics are not Related to Genotypes in Offspring of Parents with Essential Hypertension		106150		CDC	2006	The markedly greater RVR, proportionally larger than the greater BP, supports a role for RVR in the pathogenesis of EH.											
144128		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Medica, I.  et al. 2006	17112651				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Eur J Obstet Gynecol Reprod Biol    2006	Genetic polymorphisms in vasoactive genes and preeclampsia		106150		CDC	2006												
144129		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	1	1q42-q43	AGT	228904891	228916564		Rana, B. K.  et al. 2006	17159089				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Hypertension    2006	Population-Based Sample Reveals Gene-Gender Interactions in Blood Pressure in White Americans		106150		CDC	2006												
144130	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	1	1q42-q43	AGT	228904891	228916564		Park, B. L.  et al. 2006	17202846			promoter	Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Korean		CDC GDP info	183	Hs.19383			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		106150		CDC	2006												
144132	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	1	1q42-q43	AGT	228904891	228916564		Su, X.  et al. 2007	17261659				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Circulation    2007	Association Between Angiotensinogen, Angiotensin II Receptor Genes, and Blood Pressure Response to an Angiotensin-Converting Enzyme Inhibitor	rs7079	106150		CDC	2007	AGT SNP rs7079 and AGTR1 haplotypes were associated with BP reduction in response to ACEI therapy in hypertensive Chinese patients.		benazepril									
144133		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Freitas, S. R.  et al. 2007	17334527				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Brazilian		CDC GDP info	183	Hs.19383			Braz J Med Biol Res    2007    40(3)    309-16	Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension		106150		CDC	2007												
144134	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q42-q43	AGT	228904891	228916564		Bauters, C.  et al. 2007	17383306				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		106150		CDC	2007												
144135		depression	PSYCH	PSY	Depressive Disorder, Major	1	1q42-q43	AGT	228904891	228916564		Saab, Y. B.  et al. 2007	17499413				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Prog Neuropsychopharmacol Biol Psychiatry    2007	Renin-angiotensin-system gene polymorphisms and depression		106150		CDC	2007												
144137		myocardial infarct stroke	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	1	1q42-q43	AGT	228904891	228916564		Marciante, K. D.  et al. 2007	17522061				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	European		CDC GDP info	183	Hs.19383			Am J Epidemiol    2007	Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients		106150		CDC	2007												
144139		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Hypotension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Blanchard, B. E.  et al. 2006	16468060				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Eur J Appl Physiol    2006        1-8	RAAS polymorphisms alter the acute blood pressure response to aerobic exercise among men with hypertension		106165		CDC	2006			physical activity									
144140		atherosclerosis, generalized blood pressure, arterial cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Atherosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Burdon, K. P.  et al. 2006	16492203				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	African American;European		CDC GDP info	185	Hs.477887			Diabet Med    2006    23(3)    228-34	Association analysis of genes in the renin-angiotensin system with subclinical cardiovascular disease in families with Type 2 diabetes mellitus		106165		CDC	2006	Genetic variation of the RAS and NOS3 genes do not appear to strongly influence subclinical cardiovascular disease or blood pressure in this diabetic population.											
144141	N	dementia, vascular	PSYCH	PSY	Dementia, Vascular	3	3q21-q25	AGTR1	149898347	149943480		Kim, Y.  et al. 2006	16603315				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Neurosci Lett    2006	Sequence variants of ACE, AGT, AT1R, and PAI-1 as genetic risk factors for vascular dementia		106165		CDC	2006												
144142		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	3	3q21-q25	AGTR1	149898347	149943480		Wijpkema, J. S.  et al. 2006	16609364				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Pharmacogenet Genomics    2006    16(5)    331-337	Restenosis after percutaneous coronary intervention is associated with the angiotensin-II type-1 receptor 1166A/C polymorphism but not with polymorphisms of angiotensin-converting enzyme, angiotensin-II receptor, angiotensinogen or heme oxygenase-1		106165		CDC	2006	We could only establish a role for the AT1R 1166A/C polymorphism in restenosis after PCI. However, significant gene-gene interaction was suggested for the ACE gene and the HO-1 promotor. The RAS and HO-1 relation in restenosis merits further investigation.											
144143		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Suh, I.  et al. 2006	16615274				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Korean		CDC GDP info	185	Hs.477887			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		106165		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
144145		suicide	PSYCH	PSY		3	3q21-q25	AGTR1	149898347	149943480		Hishimoto, A.  et al. 2006	16736244				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			J Neural Transm    2006	Association between a functional polymorphism in the renin-angiotensin system and completed suicide		106165		CDC	2006												
144146	N	peritoneal transport	RENAL	REN	Kidney Diseases	3	3q21-q25	AGTR1	149898347	149943480		Akcay, A.  et al. 2006	16741369				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Nephron Clin Pract    2006    104(1)    c41-c46	Relationship of ENOS and RAS Gene Polymorphisms to Initial Peritoneal Transport Status in Peritoneal Dialysis Patients		106165		CDC	2006	Modulation of the nitric oxide activity via the ENOS a/b polymorphism may have a considerable effect on the basal peritoneal permeability.											
144147		high-altitude tolerance	OTHER	OTH	Altitude Sickness	3	3q21-q25	AGTR1	149898347	149943480		Rajput, C.  et al. 2006	16893516				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		106165		CDC	2006												
144148		autonomic nervous system function	NEUROLOGICAL	NEUR		3	3q21-q25	AGTR1	149898347	149943480		Nishikino, M.  et al. 2006	16954165				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			J Clin Endocrinol Metab    2006	Genetic Variation in the Renin-Angiotensin System and Autonomic Nervous System Function in Young Healthy Japanese Subjects		106165		CDC	2006	Cardiac autonomic function can be modulated by genetic variation in the RAS even in young and healthy states.											
144149		precocious adrenarche	DEVELOPMENTAL	DEV	Metabolic Syndrome X|Puberty, Precocious	3	3q21-q25	AGTR1	149898347	149943480		Moura, M. S.  et al. 2006	17160213				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Arq Bras Endocrinol Metabol    2006    50(5)    893-900	Mutation screening in Angiotensin II receptors, AGTR1 and AGTR2, and evaluation of AGTR1 polymorphisms C573T and A1166C in patients with premature adrenarche.		106165		CDC	2006												
144151	N	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	3	3q21-q25	AGTR1	149898347	149943480		Shin, J.  et al. 2007	17223428				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		106165		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
144152	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Su, X.  et al. 2007	17261659				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Circulation    2007	Association Between Angiotensinogen, Angiotensin II Receptor Genes, and Blood Pressure Response to an Angiotensin-Converting Enzyme Inhibitor		106165		CDC	2007	AGT SNP rs7079 and AGTR1 haplotypes were associated with BP reduction in response to ACEI therapy in hypertensive Chinese patients.		benazepril									
144154	Y	heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low|Myocardial Ischemia|Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480			17326392				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Russian	Bashkiria	CDC GDP info	185	Hs.477887			Genetika    2006    42(12)    1712-7	Association of polymorphic markers I/D of gene ACE and A1166C of gene AT2R1 with ischemic chronic heart failure in the Russian and Tatar populations of Bashkortostan Republic		106165		CDC	2006												
144155		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	3	3q21-q25	AGTR1	149898347	149943480		Freitas, S. R.  et al. 2007	17334527				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Brazilian		CDC GDP info	185	Hs.477887			Braz J Med Biol Res    2007    40(3)    309-16	Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension		106165		CDC	2007												
144156		depression	PSYCH	PSY	Depressive Disorder, Major	3	3q21-q25	AGTR1	149898347	149943480		Saab, Y. B.  et al. 2007	17499413				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Prog Neuropsychopharmacol Biol Psychiatry    2007	Renin-angiotensin-system gene polymorphisms and depression		106165		CDC	2007												
144157		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression	3	3q21-q25	AGTR1	149898347	149943480		Franco, E.  et al. 2007	17519002				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Italian	Italy	CDC GDP info	185	Hs.477887			BMC Med Genet    2007    8(1)    27	Renin-angiotensin-aldosterone system polymorphisms		106165		CDC	2007	Polymorphisms in RAAS genes can be important in the onset of a first AMI in young patients (ACE, CYP11B2 polymorphisms), but not in the disease progression after a long follow-up period. Larger collaborative studies are needed to confirm these results.											
144158		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Pre-Eclampsia	3	3q21-q25	AGTR1	149898347	149943480		Benedetto, C.  et al. 2007	17520398				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Acta Obstet Gynecol Scand    2007    86(6)    678-82	Synergistic effect of renin-angiotensin system and nitric oxide synthase genes polymorphisms in pre-eclampsia		106165		CDC	2007												
144160		hypertension	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Freitas, S. R.  et al. 2007	17546276				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Brazilian		CDC GDP info	185	Hs.477887			Arq Bras Cardiol    2007    88(4)    447-51	Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region		106165		CDC	2007	These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.											
144162	Y	stroke	CARDIOVASCULAR	CARD		3	3q21-q25	AGTR1	149898347	149943480		Henskens, L. H.  et al. 2007	17586411				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Am J Hypertens    2007    20(7)    764-70	Renin-Angiotensin system and nitric oxide synthase gene polymorphisms in relation to stroke		106165		CDC	2007	In the presence of other coexisting risk factors the AGTR1 A(1166)C but not the NOS3 G(894)T polymorphism increased the risk of stroke.		blood pressure									
144163	Y	atherosclerosis, coronary endothelial function hypercholesterolemia lipids	CARDIOVASCULAR	CARD	Coronary Disease	3	3q21-q25	AGTR1	149898347	149943480		Kiliszek, M.  et al. 2007	17617024	C allele of AT1R A1166C			Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Clin Chem Lab Med    2007    45(7)    839-42	A1166C polymorphism of the angiotensin AT1 receptor (AT1R) gene alters endothelial response to statin treatment		106165		CDC	2007	The C allele of AT1R A1166C is associated with$$$ significantly lower endothelial response to statin treatment.											
144164		hypertension left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Zhang, M.  et al. 2006	16550310				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Heart Vessels    2006    21(2)    95-101	Angiotensin II type 2 receptor gene polymorphisms and cardioprotective role in essential hypertension		300034		CDC	2006												
144165		blood pressure, arterial kidney function	CARDIOVASCULAR	CARD	Diabetic Neuropathies|Diabetes Mellitus, Type 1	X	Xq22-q23	AGTR2	115216030	115219848		Pettersson-Fernholm, K.  et al. 2006	16598200				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Finnish		CDC GDP info	186	Hs.405348			Kidney Int    2006	The AT2 gene may have a gender-specific effect on kidney function and pulse pressure in type I diabetic patients		300034		CDC	2006												
144166		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	X	Xq22-q23	AGTR2	115216030	115219848		Wijpkema, J. S.  et al. 2006	16609364				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Pharmacogenet Genomics    2006    16(5)    331-337	Restenosis after percutaneous coronary intervention is associated with the angiotensin-II type-1 receptor 1166A/C polymorphism but not with polymorphisms of angiotensin-converting enzyme, angiotensin-II receptor, angiotensinogen or heme oxygenase-1		300034		CDC	2006	We could only establish a role for the AT1R 1166A/C polymorphism in restenosis after PCI. However, significant gene-gene interaction was suggested for the ACE gene and the HO-1 promotor. The RAS and HO-1 relation in restenosis merits further investigation.											
144169		precocious adrenarche	DEVELOPMENTAL	DEV	Metabolic Syndrome X|Puberty, Precocious	X	Xq22-q23	AGTR2	115216030	115219848		Moura, M. S.  et al. 2006	17160213				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Arq Bras Endocrinol Metabol    2006    50(5)    893-900	Mutation screening in Angiotensin II receptors, AGTR1 and AGTR2, and evaluation of AGTR1 polymorphisms C573T and A1166C in patients with premature adrenarche.		300034		CDC	2006												
144170	N	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Su, X.  et al. 2007	17261659				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Circulation    2007	Association Between Angiotensinogen, Angiotensin II Receptor Genes, and Blood Pressure Response to an Angiotensin-Converting Enzyme Inhibitor		300034		CDC	2007	AGT SNP rs7079 and AGTR1 haplotypes were associated with BP reduction in response to ACEI therapy in hypertensive Chinese patients.		benazepril									
144171	Y	blood pressure, arterial body mass glucose tolerance lipids	CARDIOVASCULAR	CARD		X	Xq22-q23	AGTR2	115216030	115219848		Kotani, K.  et al. 2007	17270098				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Ann Clin Biochem    2007    44(1)    83-85	The angiotensin II type 2 receptor gene polymorphism and body mass index in healthy Japanese women		300034		CDC	2007	These findings suggest that the AT2-R A/C(3123) polymorphism could be a polymorphic marker related to BMI in Japanese women.											
144172		atherosclerosis myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Constriction, Pathologic|Genetic Predisposition to Disease|Neovascularization, Pathologic	X	Xq22-q23	AGTR2	115216030	115219848		Alfakih, K.  et al. 2007	17336987				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Atherosclerosis    2007	Effect of a common X-linked angiotensin II type 2-receptor gene polymorphism (-1332 G/A) on the occurrence of premature myocardial infarction and stenotic atherosclerosis requiring revascularization		300034		CDC	2007	We have observed evidence of association between the X-linked AT(2) (-1332 G/A) polymorphism and premature CAD with further evidence of a statistically significant association with stenotic atherosclerosis requiring revascularization.											
144173		depression	PSYCH	PSY	Depressive Disorder, Major	X	Xq22-q23	AGTR2	115216030	115219848		Saab, Y. B.  et al. 2007	17499413				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Prog Neuropsychopharmacol Biol Psychiatry    2007	Renin-angiotensin-system gene polymorphisms and depression		300034		CDC	2007												
144175		myocardial infarct stroke	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	X	Xq22-q23	AGTR2	115216030	115219848		Marciante, K. D.  et al. 2007	17522061				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	European		CDC GDP info	186	Hs.405348			Am J Epidemiol    2007	Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients		300034		CDC	2007												
144176		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	X	Xq22-q23	AGTR2	115216030	115219848		Rocken, C.  et al. 2007	17548686				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1206-12	The Angiotensin II/Angiotensin II Receptor System Correlates with Nodal Spread in Intestinal Type Gastric Cancer		300034		CDC	2007												
144177	Y	left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	X	Xq22-q23	AGTR2	115216030	115219848		Ott, C.  et al. 2007	17620959				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			J Hypertens    2007    25(8)    1627-32	High sodium intake modulates left ventricular mass in patients with G expression of +1675 G/A angiotensin II receptor type 2 gene		300034		CDC	2007	Our data clearly support the notion that LVM is influenced by AT2R polymorphisms.											
144178	Y	brain infarction	CARDIOVASCULAR	CARD	Brain Infarction|Genetic Predisposition to Disease	11	11q12	AGTRL1	56757627	56761489		Hata, J.  et al. 2007	17309882				Angiotensin II receptor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005161			CDC GDP info	187	Hs.438311			Hum Mol Genet    2007	Functional SNP in a Sp1-binding site of AGTRL1 gene is associated with susceptibility to brain infarction		600052		CDC	2007												
144180		hyperoxaluria, primary, type 1	METABOLIC	MET	Hyperoxaluria, Primary	2	2q36-q37	AGXT	241456834	241467210		Williams, E.  et al. 2007	17495019				Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000030.1			CDC GDP info	189	Hs.144567			Clin Chem    2007	Selected Exonic Sequencing of the AGXT Gene Provides a Genetic Diagnosis in 50% of Patients with Primary Hyperoxaluria Type 1		604285		CDC	2007	Selective exon sequencing can allow a definitive diagnosis in 50% of PH1 patients. The test offers a rapid turnaround time (15 days) with minimal risk to the patient. Demonstration of the expression of missense changes is essential to demonstrate pathogenicity.											
144182		schizophrenia	PSYCH	PSY	Schizophrenia	6	6q23.3	AHI1	135646816	135860576		Ingason, A.  et al. 2007	17473831				Abelson helper integration site 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017651	European;Icelandic;Israeli		CDC GDP info	54806	Hs.386684			Eur J Hum Genet    2007	Support for involvement of the AHI1 locus in schizophrenia		608894		CDC	2007												
144183	P		CANCER	CAN	Neoplasms	7	7p15	AHR	17304831	17352299		Yoshimura, K.  et al. 2003	14634838				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		600253		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
144184	Y	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p15	AHR	17304831	17352299			16538170				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3		China	CDC GDP info	196	Hs.171189			Pharmacogenet Genomics    2006    16(4)    237-43	Population-based case-control study of AhR (aryl hydrocarbon receptor) and CYP1A2 polymorphisms and breast cancer risk		600253		CDC	2006	the results from our study suggest that the AhR Lys554Arg polymorphism may be a genetic susceptibility factor for breast cancer, whereas CYP1A2*1F, which is a potentially functional single nucleotide polymorphism, may not be related to breast cancer risk.											
144185		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	7	7p15	AHR	17304831	17352299		De Roos, A. J.  et al. 2006	16985026				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	non-Hispanic		CDC GDP info	196	Hs.171189			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		600253		CDC	2006												
144187	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	7	7p15	AHR	17304831	17352299		Gambier, N.  et al. 2006	17053541				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3	French		CDC GDP info	196	Hs.171189			J Hypertens    2006    24(11)    2199-205	Interaction between CYP1A1 T3801C and AHR G1661A polymorphisms according to smoking status on blood pressure in the Stanislas cohort		600253		CDC	2006	This study is the first to show an interaction between the CYP1A1 T3801C and AHR G1661A polymorphisms.		smoking (tobacco)									
144189			NORMALVARIATION	NV		7	7p15	AHR	17304831	17352299		Tiido, T.  et al. 2007	17244640				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Mol Hum Reprod    2007	Modifying effect of the AR gene trinucleotide repeats and SNPs in the AHR and AHRR genes on the association between persistent organohalogen pollutant exposure and human sperm Y		600253		CDC	2007	 The endocrine-disrupting action of POPs, in relation to the observed changes in sperm Y:X ratio, may be modulated by the genes involved in sex steroid and dioxin-mediated pathways.		organohalogen pollutants, persistent									
144190	N	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p15	AHR	17304831	17352299		Long, J. R.  et al. 2007	17429315				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Pharmacogenet Genomics    2007    17(5)    331-8	Genetic polymorphisms in estrogen-metabolizing genes and breast cancer survival		600253		CDC	2007	Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women.											
144191	Y	1-hydroxypyrene, urinary	METABOLIC	MET		7	7p15	AHR	17304831	17352299		Chen, B.  et al. 2007	17498780				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		600253		CDC	2007												
144192	N	azoospermia infertility, male oligospermia	REPRODUCTION	REP	Infertility, Male	7	7p15	AHR	17304831	17352299		Merisalu, A.  et al. 2007	17559847				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Fertil Steril    2007	The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility		600253		CDC	2007	We demonstrated that the AHRR Pro185Ala polymorphism contributed to a predisposition to male factor infertility in the Estonian population.											
144194	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	5		AHRR	357291	491405		Kim, S. H.  et al. 2007	17513317				aryl-hydrocarbon receptor repressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB033060	Korean		CDC GDP info	57491	Hs.50823			Hum Reprod    2007	Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes		606517		CDC	2007	These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.											
144195	Y	azoospermia infertility, male oligospermia	REPRODUCTION	REP	Infertility, Male	5		AHRR	357291	491405		Merisalu, A.  et al. 2007	17559847				aryl-hydrocarbon receptor repressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB033060			CDC GDP info	57491	Hs.50823			Fertil Steril    2007	The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility		606517		CDC	2007	We demonstrated that the AHRR Pro185Ala polymorphism contributed to a predisposition to male factor infertility in the Estonian population.											
144197	Y	bone density	METABOLIC	MET		3	3q27	AHSG	187813580	187821799		Jiang, H.  et al. 2007	17303000				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Chinese;Caucasian		CDC GDP info	197	Hs.324746			Acta Pharmacol Sin    2007    28(3)    375-81	Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families		138680		CDC	2007	Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese.											
144198	Y	bone density	METABOLIC	MET	Osteoporosis	3	3q27	AHSG	187813580	187821799		Yang, Y. J.  et al. 2007	17557141				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	Caucasian		CDC GDP info	197	Hs.324746			Eur J Epidemiol    2007	AHSG gene polymorphisms are associated with bone mineral density in Caucasian nuclear families		138680		CDC	2007	These data suggest the polymorphisms in the AHSG gene may have effects on BMD variation in Caucasian population.											
144199		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	AIF1	31691011	31692777		Otieno, F. G.  et al. 2007	17498268				Allograft inflammatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032955.1	Caucasian		CDC GDP info	199	Hs.76364			Tissue Antigens    2007    69(6)    583-91	Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis		601833		CDC	2007												
144200	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p21.3	AIF1	31691011	31692777		Alkassab, F.  et al. 2007	17522098				Allograft inflammatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032955.1	African American;Caucasian		CDC GDP info	199	Hs.76364			Rheumatology (Oxford)    2007	An allograft inflammatory factor 1 (AIF1) single nucleotide polymorphism (SNP) is associated with anticentromere antibody positive systemic sclerosis		601833		CDC	2007												
144201		pituitary cancer	CANCER	CAN	Adenoma|Growth Hormone-Secreting Pituitary Adenoma|Prolactinoma|Pituitary Neoplasms|Genetic Predisposition to Disease	11	11q13.3	AIP	67007096	67015150		Vierimaa, O.  et al. 2006	16728643				Aryl hydrocarbon receptor interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG913006			CDC GDP info	9049	Hs.412433			Science    2006    312(5777)    1228-30	Pituitary adenoma predisposition caused by germline mutations in the AIP gene				CDC	2006												
144202	N	pituitary cancer	CANCER	CAN	Adenoma|Pituitary Neoplasms	11	11q13.3	AIP	67007096	67015150		Yu, R.  et al. 2006	17018653				Aryl hydrocarbon receptor interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG913006	Finnish;Italian		CDC GDP info	9049	Hs.412433			J Clin Endocrinol Metab    2006	AIP VARIANTS IN SPORADIC PITUITARY ADENOMAS				CDC	2006	The three specific AIP germline mutations do not play an important role in pathogenesis of sporadic pituitary tumors in U.											
144205		macroadenomas	OTHER	OTH	Adenoma|Growth Hormone-Secreting Pituitary Adenoma|Acromegaly	11	11q13.3	AIP	67007096	67015150		Cazabat, L.  et al. 2007	17609395				Aryl hydrocarbon receptor interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG913006			CDC GDP info	9049	Hs.412433			Eur J Endocrinol    2007    157(1)    1-8	Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly				CDC	2007	Germline mutations of the AIP gene were found in a small proportion of patients with sporadic pituitary somatotropinomas.											
144206	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	21	21q22.3	AIRE	44530190	44542530		Turunen, J. A.  et al. 2006	16552513				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1	Finnish		CDC GDP info	326	Hs.129829			Immunogenetics    2006	Association analysis of the AIRE and insulin genes in Finnish type 1 diabetic patients		607358		CDC	2006	the AIRE gene does not seem to contribute to disease susceptibility in Finnish type 1 diabetic patients, whereas the insulin gene represents a notable risk factor for disease in this population.											
144207		alopecia areata	IMMUNE	IMM	Alopecia Areata	21	21q22.3	AIRE	44530190	44542530		Pforr, J.  et al. 2006	16774540				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1	Belgian;German		CDC GDP info	326	Hs.129829			Tissue Antigens    2006    68(1)    58-61	Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata		607358		CDC	2006												
144208	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Thyroiditis, Autoimmune	21	21q22.3	AIRE	44530190	44542530		Ferrera, F.  et al. 2006	17101293				Autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000383.1			CDC GDP info	326	Hs.129829			Clin Immunol    2006	AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis		607358		CDC	2006												
144209	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p11.1	AKAP10	19749341	19821721		Wirtenberger, M.  et al. 2006	16956908	AKAP10  Ile646Val			A kinase (PRKA) anchor protein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007202.2			CDC GDP info	11216	Hs.642676			Carcinogenesis    2006	The functional genetic variant Ile646Val located in the kinase binding domain of the A kinase anchoring protein 10 is associated with familial breast cancer		604694		CDC	2006												
144211	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q24-q25	AKAP13	83724874	84093590		Wirtenberger, M.  et al. 2006	16956908				A kinase (PRKA) anchor protein 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006738.4			CDC GDP info	11214	Hs.459211			Carcinogenesis    2006	The functional genetic variant Ile646Val located in the kinase binding domain of the A kinase anchoring protein 10 is associated with familial breast cancer		604686		CDC	2006												
144212		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7q21-q22	AKAP9	91408127	91577925		Rudd, M. F.  et al. 2006	16741161				A kinase (PRKA) anchor protein (yotiao) 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147171	Caucasian		CDC GDP info	10142	Hs.651221			Genome Res    2006    16(6)    693-701	Variants in the GH-IGF axis confer susceptibilityto lung cancer				CDC	2006												
144213		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p33-p32	AKR1A1	45789084	45808308			16543247				Aldo-keto reductase family 1, member A1 (aldehyde reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006066			CDC GDP info	10327	Hs.654435			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		103830		CDC	2006												
144215	Y	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428			16545977	AKR1B1  -106CC			Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Brazilian;Caucasian		CDC GDP info	231	Hs.521212			Mol Genet Metab    2006	The -106CC genotype of the aldose reductase gene is associated with an increased risk of proliferative diabetic retinopathy in Caucasian-Brazilians with type 2 diabetes		103880		CDC	2006												
144216	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Wolford, J. K.  et al. 2006	16620264				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Indian;Pima Indians		CDC GDP info	231	Hs.521212			Diabet Med    2006    23(4)    367-76	Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians		103880		CDC	2006	Common AKR1B1 polymorphisms are unlikely to be major determinants of diabetic nephropathy in this population.											
144217	Y	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Disease Progression	7	7q35	AKR1B1	133777646	133794428		Olmos, P.  et al. 2006	16701918	C(-106)T	CC genotype were more susceptible for developing retinopathy as a result of chronic hyperglycemia than those with the CT or TT genotype		Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDP info	231	Hs.521212			Diabetes Res Clin Pract    2006	C(-106)T polymorphism of the aldose reductase gene and the progression rate of diabetic retinopathy		103880		CDC	2006	In Chilean adults, the frequency of the C(-106)T polymorphism of the ALR2 gene was similar to that reported by others. Type-2 diabetics with the CC genotype were more susceptible for developing retinopathy as a result of chronic hyperglycemia than those with the CT or TT genotype.											
144218		heart disease, ischemic macroangiopathy, diabetic stroke	CARDIOVASCULAR	CARD	Diabetic Angiopathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Watarai, A.  et al. 2006	16911628				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDP info	231	Hs.521212			Diabet Med    2006    23(8)    894-9	Aldose reductase gene is associated with diabetic macroangiopathy in Japanese Type 2 diabetic patients		103880		CDC	2006	Our results suggest that the CT or TT genotype of the AR gene might be a genetic marker of susceptibility to stroke in Type 2 diabetic patients.											
144220		retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Richeti, F.  et al. 2007	17563730				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Brazilian		CDC GDP info	231	Hs.521212			Mol Vis    2007    13    740-5	Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy		103880		CDC	2007	In our sample of Brazilian patients with type 1 diabetes, the presence of the AC(n) polymorphism Z allele may be considered a risk factor for the development of PDR.											
144221		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	10	10p15-p14	AKR1C1	4924795	5139878			16543247				Aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226067			CDC GDP info	1645	Hs.460260			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		600449		CDC	2006												
144222		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	10	10p15-p14	AKR1C1	4924795	5139878		Lan, Q.  et al. 2006	17149600				Aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226067			CDC GDP info	1645	Hs.460260			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		600449		CDC	2006												
144224		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	10	10p15-p14	AKR1C3	4924795	5139878		Lan, Q.  et al. 2006	17149600				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4			CDC GDP info	8644	Hs.78183			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		603966		CDC	2006												
144225	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10p15-p14	AKR1C3	4924795	5139878		Berndt, S. I.  et al. 2007	17220347				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4	non-Hispanic		CDC GDP info	8644	Hs.78183			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		603966		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
144226		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10p15-p14	AKR1C3	4924795	5139878		Cunningham, J. M.  et al. 2007	17507624				Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4			CDC GDP info	8644	Hs.78183			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		603966		CDC	2007												
144227		body mass obesity	METABOLIC	MET		10	10p15-p14	AKR1C4	5228797	5250912		Tempfer, C. B.  et al. 2007	17207797				Aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001818.2	Caucasian		CDC GDP info	1109	Hs.567245			Fertil Steril    2007	An estrogen metabolism-related polymorphism of the 17-alpha HSD gene is associated with perimenopausal body mass index		600451		CDC	2007												
144228	Y	schizophrenia	PSYCH	PSY	Schizophrenia	14	14q32.32	AKT1	104306731	104333125		Bajestan, S. N.  et al. 2006	16583435				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	European;Iranian		CDC GDP info	207	Hs.525622			Am J Med Genet B Neuropsychiatr Genet    2006	Association of AKT1 haplotype with the risk of schizophrenia in Iranian population		164730		CDC	2006												
144229		methamphetamine abuse schizophrenia	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Schizophrenia	14	14q32.32	AKT1	104306731	104333125		Ikeda, M.  et al. 2007	17233643				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2			CDC GDP info	207	Hs.525622			Genes Brain Behav    2007    6(1)    107-12	Possible association of beta-arrestin 2 gene with methamphetamine use disorder, but not schizophrenia		164730		CDC	2007												
144231		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	14	14q32.32	AKT1	104306731	104333125		Norton, N.  et al. 2007	17383860				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Japanese;European;Iranian		CDC GDP info	207	Hs.525622			Schizophr Res    2007	Association analysis of AKT1 and schizophrenia in a UK case control sample		164730		CDC	2007	overall, the evidence for association of AKT1 as a susceptibility gene for schizophrenia is weakly positive, but not yet convincing.											
144232		diabetes, type 2 insulin lipodystrophy	METABOLIC	MET	Lipodystrophy|Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	19	19q13.1-q13.2	AKT2	45428063	45483105		Tan, K.  et al. 2007	17327441				V-akt murine thymoma viral oncogene homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001626			CDC GDP info	208	Hs.631535			Diabetes    2007    56(3)    714-9	Analysis of Genetic Variation in Akt2/PKB-{beta} in Severe Insulin Resistance, Lipodystrophy, Type 2 Diabetes, and Related Metabolic Phenotypes		164731		CDC	2007												
144234		lead toxicity	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391			15915653				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Caucasian		CDC GDP info	210	Hs.1227			G Ital Med Lav Ergon    2005    27 Suppl 1    39-42	ALAD polymorphism and indicators of dose and effects of occupational exposure to inorganic lead		125270		CDC	2005												
144235	P		NORMALVARIATION	NV		9	9q33.1	ALAD	115188412	115203391		Montenegro, M. F.  et al. 2006	16445899				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Brazilian	Brazil	CDC GDP info	210	Hs.1227			Clin Chim Acta    2006	Ethnicity affects the distribution of delta-aminolevulinic acid dehydratase (ALAD) genetic variants		125270		CDC	2006	The significant interethnic differences in the distribution of G177C ALAD variants found in the Brazilian population is consistent with differences previously reported in other countries.											
144236		creatinine kidney function lead toxicity	METABOLIC	MET	Kidney Diseases|Lead Poisoning	9	9q33.1	ALAD	115188412	115203391		Weaver, V. M.  et al. 2006	16487505				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Korean	Korea	CDC GDP info	210	Hs.1227			Environ Res    2006	Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers		125270		CDC	2006	VDR and/or ALAD genotypes modified associations between all the lead biomarkers, except patella lead, and the renal outcomes.		lead									
144237	P	kidney function	RENAL	REN	Kidney Diseases	9	9q33.1	ALAD	115188412	115203391		Chia, S. E.  et al. 2006	16497859				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1	Chinese;Indian;Singapore;Vietnamese		CDC GDP info	210	Hs.1227			Occup Environ Med    2006    63(3)    180-6	Association of renal function and delta-aminolevulinic acid dehydratase polymorphism among Vietnamese and Singapore workers exposed to inorganic lead		125270		CDC	2006	The frequency of the ALAD2 allele is as low in Vietnamese workers as in Chinese.		lead									
144238		lead toxicity	METABOLIC	MET	Lead Poisoning, Nervous System, Adult|Occupational Diseases|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Chia, S. E.  et al. 2006	16730797				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDP info	210	Hs.1227			Neurotoxicology    2006	Possibilities of newer ALAD polymorphism influencing human susceptibility to effects of inorganic lead on the neurobehavioral functions		125270		CDC	2006	The presence of the homozygote Rsa and Rsa39488 ALAD 2-2 seems to offer some protection against the effect of lead on motor dexterity function. While it may appear that newer ALAD polymorphism other than the commonly reported Msp SNP might influence human susceptibility to effects of inorganic lead on the neurobehavioral functions further study involving a l											
144239	N	lead toxicity	METABOLIC	MET	Lead Poisoning, Nervous System, Adult|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Weuve, J.  et al. 2006	16757504				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDP info	210	Hs.1227			Occup Environ Med    2006	Delta-aminolevulinic acid dehydratase (ALAD) polymorphism and the relation between low-level lead exposure and the Mini-Mental Status Examination in older men		125270		CDC	2006	Although not statistically significant, these findings suggest that ALAD genotype may modify blood lead\s adverse association with cognition among older men who had community exposures to lead. However, despite a relatively large sample size and the use of sensitive methods for measuring lead burden, the evidence overall was fairly weak.											
144240		brain cancer	CANCER	CAN	Glioma|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	9	9q33.1	ALAD	115188412	115203391		Rajaraman, P.  et al. 2006	17164378				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1		Pennsylvania|Massachusetts|	CDC GDP info	210	Hs.1227			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2514-20	Lead, genetic susceptibility, and risk of adult brain tumors		125270		CDC	2006	Although our results indicate that lead may be implicated in meningioma risk in genetically susceptible individuals, these results need to be interpreted with caution given the small numbers of exposed cases with a variant genotype.		lead									
144241	Y	lead toxicity	METABOLIC	MET		9	9q33.1	ALAD	115188412	115203391		Scinicariello, F.  et al. 2007	17366816				Aminolevulinate, delta-, dehydratase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003945.1			CDC GDP info	210	Hs.1227			Environ Health Perspect    2007    115(1)    35-41	Lead and delta-aminolevulinic acid dehydratase polymorphism		125270		CDC	2007	Carriers of the ALAD2 allele had higher BLLs than those who were ALAD1 homozygous and higher hemoglobin and lower ZPP, and the latter seems to be inversely related to BLL.											
144243		Alzheimer's disease	NEUROLOGICAL	NEUR		4	4q11-q13	ALB	74488869	74505996			16536861				Albumin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000477.3			CDC GDP info	213	Hs.418167			Psychiatry Clin Neurosci    2006    60 Suppl 1    S34-9	Albumin gene encoding free fatty acid and beta-amyloid transporter is genetically associated with Alzheimer disease		103600		CDC	2006												
144244		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	9	9q21.13	ALDH1A1	74705406	74757789		Moore, S.  et al. 2007	17286337			promoter	Aldehyde dehydrogenase 1 family, member A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000689.3	Indian;Trinidadian		CDC GDP info	216	Hs.76392			J Stud Alcohol Drugs    2007    68(2)    192-6	Association of ALDH1 Promoter Polymorphisms With Alcohol-Related Phenotypes in Trinidad and Tobago*		100640		CDC	2007	on the possible impact on alcohol dependence in that population.											
144245	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	9	9q21.13	ALDH1A1	74705406	74757789		Nakajima, M.  et al. 2007	17502835				Aldehyde dehydrogenase 1 family, member A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000689.3			CDC GDP info	216	Hs.76392			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		100640		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
144247		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	3	3q21.2	ALDH1L1	127305097	127382175		Lim, U.  et al. 2006	17119116				Aldehyde dehydrogenase 1 family, member L1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK124908			CDC GDP info	10840	Hs.434435			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma				CDC	2006			Vitamin B6									
144248	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3q21.2	ALDH1L1	127305097	127382175		Stevens, V. L.  et al. 2007	17548676				Aldehyde dehydrogenase 1 family, member L1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK124908			CDC GDP info	10840	Hs.434435			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1140-7	Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence				CDC	2007			diet									
144250	P		NORMALVARIATION	NV		12	12q24.2	ALDH2	110688728	110732167		Hamajima, N.  et al. 2002	12718576				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	217	Hs.632733			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		100650		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
144251	P		CANCER	CAN	Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Yoshimura, K.  et al. 2003	14634838				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		100650		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
144252	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167			16520888				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		100650		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
144253		alcoholism attention deficit hyperactivity disorder	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	12	12q24.2	ALDH2	110688728	110732167		Kim, J. W.  et al. 2006	16679343				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Korean		CDC GDP info	217	Hs.632733			Alcohol Alcohol    2006	CLINICAL AND GENETIC CHARACTERISTICS OF KOREAN MALE ALCOHOLICS WITH AND WITHOUT ATTENTION DEFICIT HYPERACTIVITY DISORDER		100650		CDC	2006	The results of this study suggest that the comorbidity of alcohol dependence and ADHD in this Korean sample forms a distinct clinical phenotype that shows an increased severity of alcohol-related symptoms and behavioural/emotional problems and that ADHD is associated with$$$ an increased risk for the early onset of alcohol dependence in Korean male alcoholics.											
144255		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Luo, X.  et al. 2006	16685648				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	African American;European	United States	CDC GDP info	217	Hs.632733			Am J Hum Genet    2006    78(6)    973-87	Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene		100650		CDC	2006												
144256	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		12	12q24.2	ALDH2	110688728	110732167		Matsuo, K.  et al. 2006	16702384				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			Cancer Epidemiol Biomarkers Prev    2006    15(5)    1009-13	Alcohol Dehydrogenase 2 His47Arg Polymorphism Influences Drinking Habit Independently of Aldehyde Dehydrogenase 2 Glu487Lys Polymorphism		100650		CDC	2006	this study showed the strong effect of ADH2 His(47)Arg polymorphism on habitual drinking regardless of ALDH2 genotype.											
144258	P	cholesterol gamma glutamyltranspeptidase triglycerides	METABOLIC	MET		12	12q24.2	ALDH2	110688728	110732167		Naito, H.  et al. 2006	16847426				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese;European		CDC GDP info	217	Hs.632733			Pharmacogenet Genomics    2006    16(8)    569-577	Association of V227A PPARalpha polymorphism with altered serum biochemistry and alcohol drinking in Japanese men		100650		CDC	2006	PPARalpha-V227A is a major polymorphism in the Japanese population, and its activity may be greater compared to wild-type, but decreased by alcohol drinking.		alcohol									
144259		pancreatitis	OTHER	OTH	Pancreatitis|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Shimosegawa, T.  et al. 2006	16958672				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			J Gastroenterol Hepatol    2006    21 Suppl 3    S47-51	SPINK1 gene mutations and pancreatitis in Japan		100650		CDC	2006	in Japan the [-215G > A; IVS3 + 2T > C] mutation in the SPINK1 gene may form a unique genetic background for pancreatitis.											
144260		stroke, lacunar	CARDIOVASCULAR	CARD	Brain Infarction|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Nagasawa, H.  et al. 2007	17388993				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	CDC GDP info	217	Hs.632733			Eur J Neurol    2007    14(4)    428-34	A polymorphism of the aldehyde dehydrogenase 2 gene is a risk factor for multiple lacunar infarcts in Japanese men		100650		CDC	2007												
144261	Y	alcohol abuse cirrhosis, alcoholic pancreatitis, chronic	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Pancreatitis, Alcoholic|Pancreatitis, Chronic|Alcoholism|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Cichoz-Lach, H.  et al. 2007	17454860				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Polish		CDC GDP info	217	Hs.632733			Scand J Gastroenterol    2007    42(4)    493-8	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphism in alcohol liver cirrhosis and alcohol chronic pancreatitis among Polish individuals		100650		CDC	2007	In the Polish population examined, the ADH3*1 allele and the ADH3*1/*1 genotype are conducive to the development of alcoholism, alcohol liver cirrhosis and alcohol chronic pancreatitis. However, the ADH2*2 allele is likely to protect against these conditions. Genetic polymorphism of ALDH2 shows no correlation with alcohol addiction or alcohol cirrhosis and alcohol chronic pancreatitis. The ADH3*1 allele and the ADH3*1/*1 genotype are conducive to alcohol abuse starting at a younger age.											
144262	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167		Jo, S. A.  et al. 2007	17459359				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2	Japanese;Korean		CDC GDP info	217	Hs.632733			Clin Chim Acta    2007	A Glu487Lys polymorphism in the gene for mitochondrial aldehyde dehydrogenase 2 is associated with myocardial infarction in elderly Korean men		100650		CDC	2007	ALDH2 polymorphisms may play an important role in the pathogenesis of MI in elderly Korean men.											
144263		acetaldehyde ethanol	OTHER	OTH	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Yokoyama, A.  et al. 2007	17471563				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			Int J Cancer    2007	Contribution of the alcohol dehydrogenase-1B genotype and oral microorganisms to high salivary acetaldehyde concentrations in Japanese alcoholic men		100650		CDC	2007	the high salivary acetaldehyde levels in the alcoholics were partly attributable to prolonged ethanol exposure because of the less-active ADH1B and increased salivary acetaldehyde production as a result of oral microorganism overgrowth, and may explain their high risk for UADTC. (c) 2007 Wiley-Liss, Inc.											
144265		epilepsy, idiopathic generalized epilepsy, juvenile myoclonic	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Epilepsy, Reflex|Genetic Predisposition to Disease	6	6p22.2-p22.3	ALDH5A1	24603175	24645414			16406321				Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170740.1	German		CDC GDP info	7915	Hs.371723			Neurosci Lett    2006	Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity		610045		CDC	2006												
144266			METABOLIC	MET	Fructose Intolerance	9	9q21.3-q22.2	ALDOB	103223478	103237926			16406649				Aldolase B, fructose-bisphosphate	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000035.2	Polish	Poland	CDC GDP info	229	Hs.530274			Mol Genet Metab    2006	Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population		229600		CDC	2006												
144267	N	bipolar disorder	PSYCH	PSY		11	11q23	ALG9	111158128	111247515		Baysal, B. E.  et al. 2006	16859551				Asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001077691			CDC GDP info	79796	Hs.503850			Behav Brain Funct    2006    2(1)    25	Common variations in ALG9 are not associated with bipolar I disorder		606941		CDC	2006	These results suggest that common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder.											
144268	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2p23	ALK	29269143	29997936		Kunugi, H.  et al. 2006	16604305				Anaplastic lymphoma kinase (Ki-1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U62540		Japan	CDC GDP info	238	Hs.654469			J Neural Transm    2006	Possible association between nonsynonymous polymorphisms of the anaplastic lymphoma kinase (ALK) gene and schizophrenia in a Japanese population		105590		CDC	2006												
144270		Alstrom syndrome	DEVELOPMENTAL	DEV	Abnormalities, Multiple|Syndrome	2	2p13	ALMS1	73466393	73690554		Marshall, J. D.  et al. 2007	17594715				Alstrom syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ417593	Turkish		CDC GDP info	7840	Hs.184720			Hum Mutat    2007	Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome		606844		CDC	2007												
144271	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	17	17p13.1	ALOX12	6840127	6854776		Quintana, L. F.  et al. 2006	16514435				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDP info	239	Hs.422967			Kidney Int    2006    69(3)    526-30	A coding polymorphism in the 12-lipoxygenase gene is associated to essential hypertension and urinary 12(S)-HETE		152391		CDC	2006												
144272	Y	bone density	METABOLIC	MET		17	17p13.1	ALOX12	6840127	6854776		Ichikawa, S.  et al. 2006	16598376				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDP info	239	Hs.422967			J Bone Miner Res    2006    21(4)    556-64	Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women		152391		CDC	2006	Polymorphisms in the ALOX12 gene may contribute to normal variation in spine BMD.											
144273	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	ALOX12	6840127	6854776		Tan, W.  et al. 2006	17151091				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDP info	239	Hs.422967			Carcinogenesis    2006	Associations of functional polymorphisms in cyclooxygenase-2 and platelet 12-lipoxygenase with risk of occurrence and advanced disease status of colorectal cancer		152391		CDC	2006												
144275		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	ALOX12	6840127	6854776		Guo, Y.  et al. 2007	17460548				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDP info	239	Hs.422967			Pharmacogenet Genomics    2007    17(3)    197-205	Platelet 12-lipoxygenase Arg261Gln polymorphism		152391		CDC	2007	These observations suggest that inherited polymorphisms in arachidonic acid-metabolizing enzymes, which result in heightened gene expression or enzymatic activity, may confer host susceptibility to ESCC.											
144276	Y	bone density	METABOLIC	MET	Osteoporosis|Fractures, Bone	17	17p13.1	ALOX12	6840127	6854776		Mullin, B. H.  et al. 2007	17520163				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1	Caucasian		CDC GDP info	239	Hs.422967			Calcif Tissue Int    2007	Polymorphisms in ALOX12, but not ALOX15, Are Significantly Associated With BMD in Postmenopausal Women		152391		CDC	2007	we found no association between polymorphism in ALOX15 and BMD phenotypes but were able to replicate previous findings that genetic variation in ALOX12 seems to play a role in determining bone structure in Caucasian women.											
144277		bone density	METABOLIC	MET		17	17p13.3	ALOX15	4480962	4491709		Ichikawa, S.  et al. 2006	16598376				Arachidonate 15-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001140.3			CDC GDP info	246	Hs.73809			J Bone Miner Res    2006    21(4)    556-64	Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women		152392		CDC	2006	Polymorphisms in the ALOX12 gene may contribute to normal variation in spine BMD.											
144279	N	bone density	METABOLIC	MET	Osteoporosis|Fractures, Bone	17	17p13.3	ALOX15	4480962	4491709		Mullin, B. H.  et al. 2007	17520163				Arachidonate 15-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001140.3	Caucasian		CDC GDP info	246	Hs.73809			Calcif Tissue Int    2007	Polymorphisms in ALOX12, but not ALOX15, Are Significantly Associated With BMD in Postmenopausal Women		152392		CDC	2007	we found no association between polymorphism in ALOX15 and BMD phenotypes but were able to replicate previous findings that genetic variation in ALOX12 seems to play a role in determining bone structure in Caucasian women.											
144280		colon polyps	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569			16537708				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Cancer Epidemiol Biomarkers Prev    2006    15(3)    502-8	Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps		152390		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
144282	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569		Gong, Z.  et al. 2007	17236225				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Cancer    2007	Common polymorphisms in 5-lipoxygenase and 12-lipoxygenase genes and the risk of incident, sporadic colorectal adenoma		152390		CDC	2007	The current results suggested that polymorphisms of LOX genes may act independently or with other factors to affect the risk of colorectal adenoma.											
144283		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	ALOX5	45189634	45261569		Morgan, A. R.  et al. 2007	17373700				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		152390		CDC	2007												
144284	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	10	10q11.2	ALOX5	45189634	45261569		Gonzalez, P.  et al. 2007	17373938				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Int J Immunogenet    2007    34(2)    127-130	A functional Sp1/Egr1-tandem repeat polymorphism in the 5-lipoxygenase gene is not associated with myocardial infarction		152390		CDC	2007	we confirmed the effect of the ALOX5-promoter polymorphism on gene expression, but our data did not support a significant effect of this functional variation on MI risk.											
144285	Y	asthma	PHARMACOGENOMIC	PHARM	Asthma	10	10q11.2	ALOX5	45189634	45261569		Klotsman, M.  et al. 2007	17460547				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		152390		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
144286		stroke	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	10	10q11.2	ALOX5	45189634	45261569		Shen, C. D.  et al. 2007	17521309				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Ann Hum Genet    2007	Interaction of Genetic Risk Factors Confers Higher Risk for Thrombotic Stroke in Male Chinese		152390		CDC	2007	our results show that a combination of genetic risk factors can confer a higher risk for stroke than a single risk factor, indicating that people with multiple genetic risk factors have a higher risk of stroke and should be targets for prevention of this disease.											
144288	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556		Koch, W.  et al. 2007	17304054				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	German	Germany	CDC GDP info	241	Hs.507658			Genet Med    2007    9(2)    123-129	No association of polymorphisms in the gene encoding 5-lipoxygenase-activating protein and myocardial infarction in a large central European population		603700		CDC	2007												
144289	Y	stroke, ischemic	CARDIOVASCULAR	CARD		13	13q12	ALOX5AP	30207668	30236556		Kaushal, R.  et al. 2007	17387518				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDP info	241	Hs.507658			Hum Genet    2007	Association of ALOX5AP with ischemic stroke		603700		CDC	2007	we report significant association of variants of ALOX5AP with ischemic stroke and ischemic stroke subtypes among whites.											
144290	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	13	13q12	ALOX5AP	30207668	30236556		Klotsman, M.  et al. 2007	17460547				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDP info	241	Hs.507658			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		603700		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
144291		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	13	13q12	ALOX5AP	30207668	30236556		Girelli, D.  et al. 2007	17505527				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2	European;Icelandic		CDC GDP info	241	Hs.507658			Eur J Hum Genet    2007	ALOX5AP gene variants and risk of coronary artery disease		603700		CDC	2007												
144293		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	1	1p36.1-p34	ALPL	21708444	21777492		Tsui, H. W.  et al. 2006	17195227				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2			CDC GDP info	249	Hs.75431			Arthritis Rheum    2006    56(1)    234-243	Association of a TNAP haplotype with ankylosing spondylitis		171760		CDC	2006	Our results indicate that the TNAP haplotype rs3767155 (G)/rs3738099 (G)/rs1780329 (T) is a novel genetic marker in men that is significantly associated with AS in multiplex families containing affected individuals of both sexes.											
144295		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	11	11p11.2	ALX4	44242733	44288292		Park, J. W.  et al. 2006	16415175				Aristaless-like homeobox 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB058691			CDC GDP info	60529	Hs.436055			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		605420		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
144296		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p11.2	ALX4	44242733	44288292		Sladek, R.  et al. 2007	17293876				Aristaless-like homeobox 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB058691	French		CDC GDP info	60529	Hs.436055			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		605420		CDC	2007												
144297	Y	estradiol	REPRODUCTION	REP		12	12q13	AMHR2	52103907	52111579		Kevenaar, M. E.  et al. 2007	17337470				Anti-Mullerian hormone receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020547.1	German		CDC GDP info	269	Hs.437877			Hum Reprod    2007	Anti-Mullerian hormone and anti-Mullerian hormone type II receptor polymorphisms are associated with follicular phase estradiol levels in normo-ovulatory women		600956		CDC	2007	Polymorphisms in the AMH and AMHR2 genes are associated with follicular phase E(2) levels, suggesting a role for AMH in the regulation of FSH sensitivity in the human ovary.											
144298		myopathy, drug-induced	METABOLIC	MET	Muscular Diseases|Glycogen Storage Disease Type V	1	1p13	AMPD1	115017244	115039699		Vladutiu, G. D.  et al. 2006	16671104				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Muscle Nerve    2006	Genetic risk factors associated with lipid-lowering drug-induced myopathies		102770		CDC	2006												
144299		vasodilatory response to ischemia	CARDIOVASCULAR	CARD	Hyperemia|Ischemia	1	1p13	AMPD1	115017244	115039699		Hand, B. D.  et al. 2006	16707139				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1	Caucasian		CDC GDP info	270	Hs.89570			Life Sci    2006	AMPD1 gene polymorphism and the vasodilatory response to ischemia		102770		CDC	2006												
144300		endurance performance	NORMALVARIATION	NV		1	1p13	AMPD1	115017244	115039699		Perez, M.  et al. 2006	16767606				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1	Caucasian		CDC GDP info	270	Hs.89570			Int J Sports Med    2006    27(6)    429-35	Does the C34T Mutation in AMPD1 Alter Exercise Capacity in the Elderly?		102770		CDC	2006												
144302	Y	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1p13	AMPD1	115017244	115039699		Wessels, J. A.  et al. 2006	16947783				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Arthritis Rheum    2006    54(9)    2830-2839	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis		102770		CDC	2006	Polymorphisms in the AMPD1, ATIC, and ITPA genes are associated with good clinical response to MTX treatment.		methotrexate									
144303	N	congestive heart failure	CARDIOVASCULAR	CARD	Heart Failure|Ventricular Dysfunction, Left	1	1p13	AMPD1	115017244	115039699		de Groote, P.  et al. 2006	16996850				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Am Heart J    2006    152(4)    736-41	The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure		102770		CDC	2006	In our population, we did not demonstrate any effect of the C34T polymorphism of the AMPD1 gene on major congestive heart failure parameters and on survival.											
144304		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1p13	AMPD1	115017244	115039699		Wessels, J. A.  et al. 2007	17530705				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Arthritis Rheum    2007    56(6)    1765-1775	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis		102770		CDC	2007	This study established a model for predicting the efficacy of MTX in patients with RA.		methotrexate									
144305	N	glucose tolerance heart disease, ischemic	METABOLIC	MET	Cardiomegaly|Coronary Artery Disease	1	1p13	AMPD1	115017244	115039699		Agewall, S.  et al. 2006	17565237				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Pathophysiol Haemost Thromb    2006    35(6)    440-4	Association between AMPD1 Gene Polymorphism and Coagulation Factors in Patients with Coronary Heart Disease		102770		CDC	2006	there were no differences between the mutant AMPD1 allele carriers and CC homozygotes regarding surrogate values for atherosclerosis, endothelial function, dimensions and ejection fraction of the heart, glucose tolerance and other well-known cardiovascular risk factors, whereas plasminogen activator inhibitor-1 activity and von Willebrand levels were lower in the mutant AMPD1 allele carriers.											
144306		hyperglycinemia, nonketotic	METABOLIC	MET	Hyperglycinemia, Nonketotic	3	3p21.2-p21.1	AMT	49429214	49435016		Kure, S.  et al. 2006	16450403				Aminomethyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044792	Caucasian		CDC GDP info	275	Hs.102			Hum Mutat    2006	Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia		238310		CDC	2006												
144307	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR		14	14q11.1-q11.2	ANG	20222211	20232185		Del Bo, R.  et al. 2006	17113198				angiogenin, ribonuclease, RNase A family, 5		Italian		CDC GDP info	283	Hs.695245			Neurobiol Aging    2006	Absence of angiogenic genes modification in Italian ALS patients		105850		CDC	2006	our data argue against the hypothesis of both genes as risk factors for motoneuron neurodegeneration, at least in an Italian population.											
144309		retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity	8	8p23.1	ANGPT2	6347600	6408172		Banyasz, I.  et al. 2006	16877277				Angiopoietin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001147.1			CDC GDP info	285	Hs.583870			Curr Eye Res    2006    31(7)    685-90	Genetic polymorphisms of vascular endothelial growth factor and angiopoietin 2 in retinopathy of prematurity		601922		CDC	2006												
144311		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	4	4q25-q27	ANK2	113958687	114524336		Mank-Seymour, A. R.  et al. 2006	17161064				Ankyrin 2, neuronal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001148.3			CDC GDP info	287	Hs.620557			Am Heart J    2006    152(6)    1116-22	Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes		106410		CDC	2006	Genotypes alone could not be used to completely predict susceptibility to TdP, even when used with phenotypes.											
144312		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21	ANK3	61458164	62163254		Morgan, A. R.  et al. 2007	17373700				Ankyrin 3, node of Ranvier (ankyrin G)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020987			CDC GDP info	288	Hs.499725			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		600465		CDC	2007												
144313	Y	body weight height limb length	METABOLIC	MET		5	5p15.1	ANKH	14762018	14924876		Malkin, I.  et al. 2006	16724232				ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3	European		CDC GDP info	56172	Hs.156727			Hum Genet    2006	Strong association between polymorphisms in ANKH locus and skeletal size traits		605145		CDC	2006												
144314		osteoprotegerin	METABOLIC	MET	Ankylosis	5	5p15.1	ANKH	14762018	14924876		Vistoropsky, Y.  et al. 2006	17147692				ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			CDC GDP info	56172	Hs.156727			Ann Hum Genet    2006	Osteoprotegerin Plasma Levels are Strongly Associated with Polymorphisms in Human Homologue of the Mouse Progressive Ankylosis (ANKH) Gene		605145		CDC	2006												
144315		osteocalcin parathyroid hormone levels	METABOLIC	MET		5	5p15.1	ANKH	14762018	14924876		Vistoropsky, Y.  et al. 2007	17403715				ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			CDC GDP info	56172	Hs.156727			Hum Mol Genet    2007	Contribution of the putative genetic factors and ANKH gene polymorphisms to variation of circulating calciotropic molecules, PTH, and BGP		605145		CDC	2007												
144316		arthropathy, peripheral	CARDIOVASCULAR	CARD	Chondrocalcinosis|Genetic Predisposition to Disease	5	5p15.1	ANKH	14762018	14924876		Peach, C. A.  et al. 2007	17563703				ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027.3			CDC GDP info	56172	Hs.156727			Clin Orthop Relat Res    2007	Cuff Tear Arthropathy		605145		CDC	2007												
144317	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Opioid-Related Disorders|Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23.1	ANKK1	112763722	112776350		Gelernter, J.  et al. 2006	17085484				Ankyrin repeat and kinase domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ541797	European		CDC GDP info	255239	Hs.448473			Hum Mol Genet    2006	Haplotype Spanning TTC12 and ANKK1, Flanked By the DRD2 and NCAM1 Loci, is Strongly Associated to Nicotine Dependence in Two Distinct American Populations		608774		CDC	2006	a risk locus for ND, important both in AAs and EAs, maps to a region that spans TTC12 and ANKK1.											
144319		annexin A5 antibodies	IMMUNE	IMM	Abortion, Spontaneous|Thrombosis|Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Genetic Predisposition to Disease	4	4q26-q28	ANXA5	122808597	122837626		de Laat, B.  et al. 2006	16449315				Annexin A5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001154.2			CDC GDP info	308	Hs.480653			Ann Rheum Dis    2006	Annexin A5 polymorphism (-1C>T) and the presence of anti-annexin A5 antibodies in the antiphospholipid syndrome		131230		CDC	2006	The detection of anti-annexin A5 antibodies does not seem relevant for estimating the risk for thrombosis or miscarriage in APS. The -1C-->T mutation was an independent risk factor for miscarriage, which is independent of APS.											
144320		pregnancy complications	REPRODUCTION	REP	Pregnancy Complications|Fetal Growth Retardation	4	4q26-q28	ANXA5	122808597	122837626		Franchi, F.  et al. 2006	16704958				Annexin A5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001154.2			CDC GDP info	308	Hs.480653			Haematologica    2006	Annexin V C/T-1 polymorphism and pregnancy complications		131230		CDC	2006												
144321		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	4	4q26-q28	ANXA5	122808597	122837626		Coolman, M.  et al. 2006	17137622				Annexin A5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001154.2			CDC GDP info	308	Hs.480653			Placenta    2006	Matrix Metalloproteinase-9 Gene -1562C/T Polymorphism Mitigates Preeclampsia		131230		CDC	2006												
144322	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	4	4q26-q28	ANXA5	122808597	122837626		Bogdanova, N.  et al. 2007	17339269			promoter	Annexin A5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001154.2	German		CDC GDP info	308	Hs.480653			Hum Mol Genet    2007	A Common Haplotype of the Annexin A5 (ANXA5) Gene Promoter Is Associated with Recurrent Pregnancy Loss		131230		CDC	2007												
144323		atherosclerosis, coronary lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q14.1	AP3B1	77333905	77626284		Luke, M. M.  et al. 2007	17569884				Adaptor-related protein complex 3, beta 1 subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC038444			CDC GDP info	8546	Hs.532091			Arterioscler Thromb Vasc Biol    2007	A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease		603401		CDC	2007	The LPA I4399M SNP is associated with$$$ severe CAD and plasma lipoprotein(a) levels.											
144324		epilepsy	NEUROLOGICAL	NEUR	Epilepsy|Genetic Predisposition to Disease	8	8p11.2	AP3M2	42129760	42147858		Huang, M. C.  et al. 2007	17293072				Adaptor-related protein complex 3, mu 2 subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648390			CDC GDP info	10947	Hs.654529			Brain Dev    2007	Mutation screening of AP3M2 in Japanese epilepsy patients				CDC	2007												
144325		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	12	12q23	APAF1	97563208	97653342		Ester, A. R.  et al. 2007	17534194				Apoptotic peptidase activating factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013229.2			CDC GDP info	317	Hs.552567			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		602233		CDC	2007												
144326		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10p12.1	APBB1IP	26767271	26896738		Morgan, A. R.  et al. 2007	17373700				Amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019043			CDC GDP info	54518	Hs.310421			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
144327	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835			16537703				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Ashkenazi;Jewish	Israel	CDC GDP info	324	Hs.158932			Cancer Epidemiol Biomarkers Prev    2006    15(3)    468-73	APC I1307K and the Risk of Prostate Cancer		175100		CDC	2006	the evidence for an association between APC I1307K and prostate cancer is not compelling.											
144329	N	brain cancer	CANCER	CAN	Ependymoma	5	5q21-q22	APC	112101482	112209835		Onilude, O. E.  et al. 2006	16843107				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDP info	324	Hs.158932			Cancer Genet Cytogenet    2006    168(2)    158-61	APC and CTNNB1 mutations are rare in sporadic ependymomas		175100		CDC	2006	although inherited APC mutations may be associated with ependymoma development in certain TS2 cases, these data indicate that somatic mutations affecting APC and CTNNB1 do not play a major role in the pathogenesis of sporadic ependymomas.											
144330		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colonic Neoplasms|Rectal Neoplasms	5	5q21-q22	APC	112101482	112209835		de Vogel, S.  et al. 2006	17116713				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDP info	324	Hs.158932			J Nutr    2006    136(12)    3015-3021	Dietary Folate and APC Mutations in Sporadic Colorectal Cancer		175100		CDC	2006			folate									
144331	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5q21-q22	APC	112101482	112209835		Rozek, L. S.  et al. 2006	17119068	E1317Q			Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDP info	324	Hs.158932			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2325-7	APC E1317Q Is Not Associated with Colorectal Cancer in a Population-Based Case-Control Study in Northern Israel		175100		CDC	2006	it is unlikely that APC E1317Q is associated with a clinically meaningful risk of colorectal cancer.											
144333		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Adenocarcinoma|Colorectal Neoplasms|Neoplasms, Multiple Primary	5	5q21-q22	APC	112101482	112209835		Kim, J. C.  et al. 2007	17252231				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Korean		CDC GDP info	324	Hs.158932			Virchows Arch    2007	MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas		175100		CDC	2007												
144334		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835		Nielsen, M.  et al. 2007	17489848				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDP info	324	Hs.158932			Clin Genet    2007    71(5)    427-33	Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis		175100		CDC	2007												
144336		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage	14	14q11.2-q12	APEX1	19993129	19995766			16425270				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2		North Carolina	CDC GDP info	328	Hs.73722			Int J Cancer    2006	APE1 genotype and risk of bladder cancer		107748		CDC	2006			smoking (tobacco)									
144337	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Zhang, Y.  et al. 2006	16492928				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Caucasian;Polish;Asian		CDC GDP info	328	Hs.73722			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		107748		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
144338		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Moreno, V.  et al. 2006	16609022				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		107748		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
144339	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Li, C.  et al. 2006	16621887				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Carcinogenesis    2006	Genetic variants of the ADPRT, XRCC1, and APE1 genes and risk of cutaneous melanoma		107748		CDC	2006	the APE1 Glu variant may have an effect or interact with XRCC1 in the etiology of CM or in linkage disequilibrium with other untyped protective alleles.											
144341	N	benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Sun, P.  et al. 2006	16889694				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(7)    385-9	Relationship of genetic polymorphism in APE1 and ADPRT to risks of chronic benzene poisoning.		107748		CDC	2006	The genetic polymorphisms in APE1Asp148Glu, ADPRTVal762Ala are not related to the risk of BP.											
144342		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Manuguerra, M. et al  et al. 2006	16956909				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		107748		CDC	2006												
144343		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	14	14q11.2-q12	APEX1	19993129	19995766		Andreassen, C. N.  et al. 2006	16966185				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		107748		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
144345	Y	DNA repair	OTHER	OTH	DNA Damage	14	14q11.2-q12	APEX1	19993129	19995766		Vodicka, P.  et al. 2006	17028303				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Carcinogenesis    2006	Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects		107748		CDC	2006				OGG1	OGG1 Ser326Cys	APE1	APE1 Asn148Glu					
144346		lung cancer	CANCER	CAN	Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Ryk, C.  et al. 2006	17034901				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Lung Cancer    2006	Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers		107748		CDC	2006			smoking (tobacco)									
144347	Y	upper aerodigestive tract cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Hall, J.  et al. 2006	17040931				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Romania, Poland, Russia, Slovakia and the Czech Republic		CDC GDP info	328	Hs.73722			Carcinogenesis    2006	The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract		107748		CDC	2006												
144349		drug hypersensitivity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	14	14q11.2-q12	APEX1	19993129	19995766		Kuptsova, N.  et al. 2006	17197435				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Blood    2006	Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials		107748		CDC	2006			chemotherapy									
144350		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Figueroa, J. D.  et al. 2007	17203305				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		107748		CDC	2007												
144352		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Li, D.  et al. 2007	17230526				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Int J Cancer    2007	Effects of base excision repair gene polymorphisms on pancreatic cancer survival		107748		CDC	2007												
144354		skin lesions, arsenic-induced	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Breton, C. V.  et al. 2007	17374727				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Carcinogenesis    2007	Susceptibility to arsenic-induced skin lesions from polymorphisms in base excision repair genes		107748		CDC	2007												
144355	Y	lung cancer	CANCER	CAN	Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		De Ruyck, K.  et al. 2007	17531525	Asp148Glu			APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Caucasian		CDC GDP info	328	Hs.73722			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		107748		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
144356		chromosome damage	OTHER	OTH		14	14q11.2-q12	APEX1	19993129	19995766		Qiu, Y.  et al. 2007	17555083				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Wei Sheng Yan Jiu    2007    36(2)    132-6	Study of susceptibility of chromosomal damage induced by vinyl chloride monomer associated with genetic polymorphism in APE1, XRCC1		107748		CDC	2007	It was suggested that female workers and subjects carrying XRCC1 194 Arg/Arg genotypes could be higher risk of chromosomal damage when they exposed to VCM.		vinyl chloride monomer									
144357		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Li, C.  et al. 2007	17614107				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	non-Hispanic		CDC GDP info	328	Hs.73722			Cancer    2007	Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck		107748		CDC	2007			alcohol smoking (tobacco)									
144358	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		15	15q22.2	APH1B	61356843	61385166		Poli, M.  et al. 2007	17466415				Anterior pharynx defective 1 homolog B (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM563192	Italian		CDC GDP info	83464	Hs.511703			Neurobiol Aging    2007	Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease		607630		CDC	2007												
144359			CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23-q24	APOA1	116211678	116213548		Moral, P.  et al. 2003	14746139				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	European		CDC GDP info	335	Hs.93194			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		107680		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
144360	N	lipids triglycerides	PHARMACOGENOMIC	PHARM	HIV Infections|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548			16417409				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	non-Hispanic		CDC GDP info	335	Hs.93194			PLoS Med    2006    3(3)    e52	Associations among Race/Ethnicity, ApoC-III Genotypes, and Lipids in HIV-1-Infected Individuals on Antiretroviral Therapy		107680		CDC	2006	In the first pharmacogenetic study of its kind in HIV-1 disease, we found race/ethnic-specific differences in plasma lipid levels on ART, as well as differences in the influence of the apoC-III gene on the development of PI-related hypertriglyceridemia. Given the multi-ethnic distribution of HIV-1 infection, our findings underscore the need for future studies of metabolic and cardiovascular complications of ART that specifically account for racial/ethnic heterogeneity, particularly when assessing candidate gene effects.		antiretroviral									
144361		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23-q24	APOA1	116211678	116213548			16542392				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Caucasian		CDC GDP info	335	Hs.93194			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		107680		CDC	2006												
144362		cholesterol, HDL	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Brown, C. M.  et al. 2006	16705465				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	European		CDC GDP info	335	Hs.93194			J Mol Med    2006    84(7)    561-72	The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability		107680		CDC	2006												
144363		cholesterol cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23-q24	APOA1	116211678	116213548		Hamon, S. C.  et al. 2006	16710093				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	European		CDC GDP info	335	Hs.93194			Hum Hered    2006    61(2)    87-96	Evidence for Consistent Intragenic and Intergenic Interactions between SNP Effects in the APOA1/C3/A4/A5 Gene Cluster		107680		CDC	2006	Our analyses suggest that ignoring the contribution of interactions between SNP genotype effects when modeling multi-SNP genotype-phenotype relationships may result in an underestimate of the contribution of genetic variation to variation in quantitative cardiovascular disease (CVD) risk factor traits.											
144364	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23-q24	APOA1	116211678	116213548		Klos, K. L.  et al. 2006	16763159				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		107680		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144365	N	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Bauerfeind, A.  et al. 2006	16770077				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Caucasian;German		CDC GDP info	335	Hs.93194			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		107680		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
144366		cholesterol, HDL triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23-q24	APOA1	116211678	116213548		Qi, L.  et al. 2006	16781717				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Atherosclerosis    2006	Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes		107680		CDC	2006												
144367		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23-q24	APOA1	116211678	116213548		Miller, M.  et al. 2006	17113061				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Clin Chim Acta    2006	Do mutations causing low HDL-C promote increased carotid intima-media thickness?		107680		CDC	2006	Genetic variants identified in the present study may be insufficient to promote early carotid atherosclerosis.											
144369	Y	gallstones	METABOLIC	MET	Gallstones	11	11q23-q24	APOA1	116211678	116213548		Yao, Y. G.  et al. 2007	17261136				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Chin J Dig Dis    2007    8(1)    52-57	Apolipoprotein AI-CIII-AIV gene cluster polymorphisms in relation to cholesterol gallstone		107680		CDC	2007	The data showed that Xmn I RFLP of ApoAI-CIII-AIV gene cluster is associated to some extent with cholesterol gallstones in female Chinese patients.											
144370	N	cholesterol	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Hubacek, J. A.  et al. 2007	17378725				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Clin Chem Lab Med    2007    45(3)    316-20	Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change		107680		CDC	2007	APOA4 and APOA5 variants may play an important role in the individual sensitivity of lipid parameters to dietary composition in men.		diet									
144371	N	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis	11	11q23-q24	APOA1	116211678	116213548		Nieminen, T.  et al. 2007	17457002				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Circ J    2007    71(5)    741-5	Apolipoprotein A-I/C-III/A-IV SstI and Apolipoprotein B XbaI Polymorphisms Do not Affect Early Functional and Structural Changes in Atherosclerosis		107680		CDC	2007	The polymorphisms apoA-I/C-III/A-IV SstI and apoB XbaI do not seem to affect carotid artery characteristics or brachial artery FMD in young adulthood.											
144373	Y	body mass cholesterol, HDL food consumption lipids	METABOLIC	MET	Body Weight	1	1q21-q23	APOA2	159458706	159460042		Corella, D.  et al. 2007	17446329	APOA2  -265T>C		promoter	Apolipoprotein A-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001643.1			CDC GDP info	336	Hs.237658			Clin Chem    2007	The -256T>C Polymorphism in the Apolipoprotein A-II Gene Promoter Is Associated with Body Mass Index and Food Intake in the Genetics of Lipid Lowering Drugs and Diet Network Study		107670		CDC	2007	The -265T>C polymorphism is consistently associated with food consumption and obesity, suggesting a new role for APOA2 in regulating dietary intake.											
144374		cholesterol cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23	APOA4	116196627	116199221		Hamon, S. C.  et al. 2006	16710093				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3	European		CDC GDP info	337	Hs.591940			Hum Hered    2006    61(2)    87-96	Evidence for Consistent Intragenic and Intergenic Interactions between SNP Effects in the APOA1/C3/A4/A5 Gene Cluster		107690		CDC	2006	Our analyses suggest that ignoring the contribution of interactions between SNP genotype effects when modeling multi-SNP genotype-phenotype relationships may result in an underestimate of the contribution of genetic variation to variation in quantitative cardiovascular disease (CVD) risk factor traits.											
144375	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23	APOA4	116196627	116199221		Klos, K. L.  et al. 2006	16763159				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		107690		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144376	Y	cholesterol, HDL triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23	APOA4	116196627	116199221		Qi, L.  et al. 2006	16781717				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Atherosclerosis    2006	Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes		107690		CDC	2006												
144377		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	11	11q23	APOA4	116196627	116199221		Humphries, S. E.  et al. 2006	17130180				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		107690		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
144378	Y	gallstones	METABOLIC	MET	Gallstones	11	11q23	APOA4	116196627	116199221		Yao, Y. G.  et al. 2007	17261136				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Chin J Dig Dis    2007    8(1)    52-57	Apolipoprotein AI-CIII-AIV gene cluster polymorphisms in relation to cholesterol gallstone		107690		CDC	2007	The data showed that Xmn I RFLP of ApoAI-CIII-AIV gene cluster is associated to some extent with cholesterol gallstones in female Chinese patients.											
144380	N	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis	11	11q23	APOA4	116196627	116199221		Nieminen, T.  et al. 2007	17457002				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Circ J    2007    71(5)    741-5	Apolipoprotein A-I/C-III/A-IV SstI and Apolipoprotein B XbaI Polymorphisms Do not Affect Early Functional and Structural Changes in Atherosclerosis		107690		CDC	2007	The polymorphisms apoA-I/C-III/A-IV SstI and apoB XbaI do not seem to affect carotid artery characteristics or brachial artery FMD in young adulthood.											
144381		C-reactive protein	IMMUNE	IMM		11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2005	15857156				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Caucasian;Korean		CDC GDP info	116519	Hs.283923			Physiol Res    2005    54(6)    687-9	Apolipoprotein AV variants do not affect C-reactive protein levels in Caucasian males		606368		CDC	2005												
144383	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Carotid Stenosis|Obesity	11	11q23	APOA5	116165295	116167794		Elosua, R.  et al. 2006	16474174				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Lipid Res    2006	Variability at the APOA5 locus is associated with carotid atherosclerosis with a modifying effect of obesity		606368		CDC	2006												
144384	Y	lipoprotein triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23	APOA5	116165295	116167794		Lai, C. Q.  et al. 2006	16636175	APOA5 -1131C			Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Circulation    2006	Dietary Intake of n-6 Fatty Acids Modulates Effect of Apolipoprotein A5 Gene on Plasma Fasting Triglycerides, Remnant Lipoprotein Concentrations, and Lipoprotein Particle Size. The Framingham Heart Study		606368		CDC	2006	Higher n-6 (but not n-3) PUFA intake increased fasting TGs, RLP concentrations, and VLDL size and decreased LDL size in APOA5 -1131C carriers, suggesting that n-6 PUFA-rich diets are related to a more atherogenic lipid profile in these subjects.		diet fat									
144385	Y	atherosclerosis, coronary lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Martinelli, N.  et al. 2006	16682041				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Atherosclerosis    2006	The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease		606368		CDC	2006												
144386		cholesterol cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23	APOA5	116165295	116167794		Hamon, S. C.  et al. 2006	16710093				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	European		CDC GDP info	116519	Hs.283923			Hum Hered    2006    61(2)    87-96	Evidence for Consistent Intragenic and Intergenic Interactions between SNP Effects in the APOA1/C3/A4/A5 Gene Cluster		606368		CDC	2006	Our analyses suggest that ignoring the contribution of interactions between SNP genotype effects when modeling multi-SNP genotype-phenotype relationships may result in an underestimate of the contribution of genetic variation to variation in quantitative cardiovascular disease (CVD) risk factor traits.											
144387	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Klos, K. L.  et al. 2006	16763159				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		606368		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144388		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Henneman, P.  et al. 2006	16777114				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Atherosclerosis    2006	Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism		606368		CDC	2006	The increased allele frequencies of the APOA5 S19W and -1131T>C rare variants in the HTG population are in agreement with previous reports. Our data show a positive correlation between apoAV and TG levels. Moreover the finding of a positive association between apoAV levels and the APOA5 S19W rare variant is in disagreement with the hypothesis that this variant is poorly secreted.											
144389	Y	cholesterol, HDL triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23	APOA5	116165295	116167794		Qi, L.  et al. 2006	16781717				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Atherosclerosis    2006	Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes		606368		CDC	2006												
144390	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Yamada, Y.  et al. 2006	16806226				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3		Japan	CDC GDP info	116519	Hs.283923			Atherosclerosis    2006	Prediction of genetic risk for metabolic syndrome		606368		CDC	2006	Genotype for APOA5 may prove reliable for assessment of genetic risk for metabolic syndrome.											
144392	Y	ApoA5 diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23	APOA5	116165295	116167794		Talmud, P. J.  et al. 2006	16917759				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Diabetologia    2006	The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels		606368		CDC	2006	 In contrast to animal studies, in man, plasma APOA5 positively correlates with plasma triglyceride levels. In prospective analysis, with the caveat that numbers were small, APOA5 genotypes do not appear to have an impact on risk of development of type 2 diabetes.											
144393		fatty acid glucose insulin triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Kim, J. Y.  et al. 2006	16943456				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Am Coll Nutr    2006    25(4)    340-7	Comparison of low-fat meal and high-fat meal on postprandial lipemic response in non-obese men according to the -1131T>C polymorphism of the apolipoprotein A5 (APOA5) gene (randomized cross-over design)		606368		CDC	2006	The capacity to clear chylomicron-TG or hydrolyze TG might become a rate-limiting factor on HF diet in TC + CC men resulting in higher postprandial triglyceridemia. Therefore, HF diet for C carriers of the APOA5 gene may be one of important CVD risk factors.		diet									
144394		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Havasi, V.  et al. 2006	16954607			promoter	Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Mol Neurosci    2006    29(2)    177-83	Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke		606368		CDC	2006												
144395	P	cholesterol cholesterol, HDL cholesterol, LDL triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Chandak, G. R.  et al. 2006	17032446				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Caucasian;Indian;Asian		CDC GDP info	116519	Hs.283923			BMC Med Genet    2006    7(1)    76	Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans		606368		CDC	2006	This is the first study to look at the role of APOA5 in Asian Indian subjects that reside in India.											
144396		cholesterol, LDL diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Zhai, G.  et al. 2006	17087641				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Clin Chem Lab Med    2006    44(11)    1313-1316	Association of APOA5 c.553G>T polymorphism with type 2 diabetes mellitus in a Chinese population		606368		CDC	2006	APOA5 c.											
144397		triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Hallman, D. M.  et al. 2006	17142127				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Metabolism    2006    55(12)    1574-81	Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels		606368		CDC	2006												
144399		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23	APOA5	116165295	116167794		Barbosa, F. A.  et al. 2006	17183147				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Alzheimers Dis    2006    10(4)    365-9	Apolipoprotein A-V gene polymorphism -1131T>C and Alzheimer's disease		606368		CDC	2006												
144400		diabetes, type 2 lipids triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23	APOA5	116165295	116167794		Dorfmeister, B.  et al. 2006	17197160				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	European;Indian;Asian		CDC GDP info	116519	Hs.283923			Biochim Biophys Acta    2006	The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes		606368		CDC	2006												
144401	Y	body mass obesity	METABOLIC	MET	Obesity|Overweight	11	11q23	APOA5	116165295	116167794		Corella, D.  et al. 2007	17211608				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Mol Med    2007	APOA5 gene variation modulates the effects of dietary fat intake on body mass index and obesity risk in the Framingham Heart Study		606368		CDC	2007	the APOA5-1131T>C SNP, which is present in approximately 13% of this population, modulates the effect of fat intake on BMI and obesity risk in both men and women.		carbohydrate fat protein									
144403	Y	cholesterol	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Hubacek, J. A.  et al. 2007	17378725				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Clin Chem Lab Med    2007    45(3)    316-20	Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change		606368		CDC	2007	APOA4 and APOA5 variants may play an important role in the individual sensitivity of lipid parameters to dietary composition in men.		diet									
144404	Y	cholesterol, HDL triglycerides	PHARMACOGENOMIC	PHARM	Hyperlipidemias	11	11q23	APOA5	116165295	116167794		Lai, C. Q.  et al. 2007	17431185				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Arterioscler Thromb Vasc Biol    2007	Fenofibrate Effect on Triglyceride and Postprandial Response of Apolipoprotein A5 Variants. The GOLDN Study		606368		CDC	2007	This study suggests that the APOA5 56G carriers benefited more from the fenofibrate treatment than noncarriers in lowering plasma TG and increasing HDL-C levels.		fenofibrate									
144405		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23	APOA5	116165295	116167794		Matsunaga, A.  et al. 2007	17457003				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Circ J    2007    71(5)    746-52	Strong Linkage Disequilibrium and Association of -1131T>C and c.553G>T Polymorphisms of the Apolipoprotein A5 Gene With Hypertriglyceridemia in a Japanese Population		606368		CDC	2007	The -1131T>C and c.553G>T (G185C) polymorphisms correlated with HTG in this Japanese population, but neither polymorphism directly affected ApoA5 expression.											
144407	Y	cholesterol cholesterol, LDL diabetes, type 2 insulin triglycerides	METABOLIC	MET		11	11q23	APOA5	116165295	116167794		Zhai, G. H.  et al. 2007	17548321				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Yi Chuan    2007    29(5)    541-546	Association of apolipoprotein A5 gene -1131T/C polymorphism with lipid metabolism and insulin resistance in patients with type dia-betes mellitus.		606368		CDC	2007												
144408	P		NORMALVARIATION	NV		11	11q23	APOA5	116165295	116167794		Ding, Y.  et al. 2007	17548323				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Yi Chuan    2007    29(5)    554-558	Analysis of apolipoprotein A5 gene polymorphisms in Hubei Han people.		606368		CDC	2007												
144410	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450			16544732	ApoB (71ile)			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	French;Israeli		CDC GDP info	338	Hs.120759			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		107730		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
144411		atherosclerosis, coronary cholesterol	CARDIOVASCULAR	CARD		2	2p24-p23	APOB	21077805	21120450		Humphries, S. E.  et al. 2006	16801348				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			J Med Genet    2006	Genetic causes of Familial Hypercholesterolaemia in UK patients		107730		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.											
144412			NORMALVARIATION	NV		2	2p24-p23	APOB	21077805	21120450		Ruangjirachuporn, W.  et al. 2006	16978902				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Leg Med (Tokyo)    2006	Population genetic data on D1S80, D17S5, ApoB, COL2A1 and Ig-JH in Northeastern Thais		107730		CDC	2006												
144413	P		NORMALVARIATION	NV		2	2p24-p23	APOB	21077805	21120450		Yalin, E.  et al. 2006	16981218				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Cell Biochem Funct    2006	Allele frequency distributions of Apo B VNTR locus in Cukurova, Turkey		107730		CDC	2006												
144415		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	2	2p24-p23	APOB	21077805	21120450		Yilmaz, S.  et al. 2006	17111197				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		107730		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
144417		heart disease, ischemic hypercholesterolemia	PHARMACOGENOMIC	PHARM	Coronary Disease|Hyperlipoproteinemia Type II	2	2p24-p23	APOB	21077805	21120450		Humphries, S. E.  et al. 2006	17142622				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			J Med Genet    2006    43(12)    943-9	Genetic causes of familial hypercholesterolaemia in patients in the UK		107730		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.		statins									
144418	P		NORMALVARIATION	NV		2	2p24-p23	APOB	21077805	21120450		Frossard, P. M.  et al. 1999	17277465				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Ann Saudi Med    1999    19(6)    490-4	Analysis of the apolipoprotein B gene 3' hypervariable region among nationals of the Abu Dhabi Emirate and comparisons with other populations		107730		CDC	1999	This marker is very informative for the Emirati population, and will be very useful for UAE-specific DNA fingerprinting. It will also be a valuable tool for assessing the role of apolipoprotein B in cardiovascular diseases.											
144419	N	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis	2	2p24-p23	APOB	21077805	21120450		Nieminen, T.  et al. 2007	17457002				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Circ J    2007    71(5)    741-5	Apolipoprotein A-I/C-III/A-IV SstI and Apolipoprotein B XbaI Polymorphisms Do not Affect Early Functional and Structural Changes in Atherosclerosis		107730		CDC	2007	The polymorphisms apoA-I/C-III/A-IV SstI and apoB XbaI do not seem to affect carotid artery characteristics or brachial artery FMD in young adulthood.											
144420		cholesterol cholesterol, HDL lipoprotein triglycerides	METABOLIC	MET		2	2p24-p23	APOB	21077805	21120450		Kallel, A.  et al. 2007	17502298				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	Tunisian		CDC GDP info	338	Hs.120759			Ann Biol Clin (Paris)    2007    65(3)    265-270	XbaI polymorphism of apolipoprotein B gene in a Tunisian population		107730		CDC	2007												
144422		osteonecrosis, steroid induced	PHARMACOGENOMIC	PHARM	Femur Head Necrosis	2	2p24-p23	APOB	21077805	21120450		Fujioka, M.  et al. 2007	17548929				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Clin Calcium    2007    17(6)    894-900	Genetic analysis for prevention of steroid-induced osteonecrosis of the femoral head.		107730		CDC	2007												
144423	P		NORMALVARIATION	NV		22	22q13.1-q13.2	APOBEC3B	37708350	37718729		Kidd, J. M.  et al. 2007	17447845				Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK024854	European;Indian		CDC GDP info	9582	Hs.226307			PLoS Genet    2007    3(4)    e63	Population Stratification of a Common APOBEC Gene Deletion Polymorphism		607110		CDC	2007												
144424		HIV	INFECTION	INF	HIV Infections|Disease Susceptibility	22	22q13.1-q13.2	APOBEC3G	37803081	37813694		Valcke, H. S.  et al. 2006	16988524				Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092614	Caucasian		CDC GDP info	60489	Hs.474853			AIDS    2006    20(15)    1984-1986	APOBEC3G genetic variants and their association with risk of HIV infection in highly exposed Caucasians		607113		CDC	2006												
144426	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Wang, C.  et al. 2006	16459141				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921		China	CDC GDP info	341	Hs.110675			Int J Hyg Environ Health    2006    209(3)    265-73	Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk		107710		CDC	2006	The results suggested that both apoE and apoCI on chromosome 19 were the susceptibility locus for CAD, their linkage disequilibrium should be responsible for the development of CAD.		alcohol smoking (tobacco)									
144427	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOC1	50109416	50114446			16544732	ApoC (3482T, 455C, 1100T, 3175G, 3206G)			Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	French;Israeli		CDC GDP info	341	Hs.110675			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		107710		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
144428		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Corder, E. H.  et al. 2006	16608402				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDP info	341	Hs.110675			Rejuvenation Res    2006    9(1)    89-93	Membership in genetic groups predicts Alzheimer disease		107710		CDC	2006												
144429	Y	gallstones	METABOLIC	MET	Cholelithiasis|Gallstones|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Dixit, M.  et al. 2006	16631424				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDP info	341	Hs.110675			Dig Liver Dis    2006	Association of APOE-C1 gene cluster polymorphisms with gallstone disease		107710		CDC	2006	APOC1 HpaI polymorphism is associated with gallstone disease and shows gender-specific differences. APOE HhaI polymorphism may not be associated with gallstone disease.											
144430	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Klos, K. L.  et al. 2006	16763159				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921			CDC GDP info	341	Hs.110675			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		107710		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144431		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	APOC1	50109416	50114446		Huang, R.  et al. 2007	17254710				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	African American;Caucasian		CDC GDP info	341	Hs.110675			Neurosci Lett    2007	APOE genotypes in African American female multiple sclerosis patients		107710		CDC	2007												
144432			CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOC2	50141082	50144658		Moral, P.  et al. 2003	14746139				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3	European		CDC GDP info	344	Hs.75615			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		608083		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
144433	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOC2	50141082	50144658		Wang, C.  et al. 2006	16459141				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3		China	CDC GDP info	344	Hs.75615			Int J Hyg Environ Health    2006    209(3)    265-73	Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk		608083		CDC	2006	The results suggested that both apoE and apoCI on chromosome 19 were the susceptibility locus for CAD, their linkage disequilibrium should be responsible for the development of CAD.		alcohol smoking (tobacco)									
144434	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOC2	50141082	50144658		Klos, K. L.  et al. 2006	16763159				Apolipoprotein C-II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000483.3			CDC GDP info	344	Hs.75615			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		608083		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144435	Y	lipids triglycerides	PHARMACOGENOMIC	PHARM	HIV Infections|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997			16417409				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	non-Hispanic		CDC GDP info	345	Hs.73849			PLoS Med    2006    3(3)    e52	Associations among Race/Ethnicity, ApoC-III Genotypes, and Lipids in HIV-1-Infected Individuals on Antiretroviral Therapy		107720		CDC	2006	In the first pharmacogenetic study of its kind in HIV-1 disease, we found race/ethnic-specific differences in plasma lipid levels on ART, as well as differences in the influence of the apoC-III gene on the development of PI-related hypertriglyceridemia. Given the multi-ethnic distribution of HIV-1 infection, our findings underscore the need for future studies of metabolic and cardiovascular complications of ART that specifically account for racial/ethnic heterogeneity, particularly when assessing candidate gene effects.		antiretroviral									
144436	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis	11	11q23.1-q23.2	APOC3	116205833	116208997		Elosua, R.  et al. 2006	16430904	APOC3 Sst-1 variant			apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Atherosclerosis    2006	Association between well-characterized lipoprotein-related genetic variants and carotid intimal medial thickness and stenosis		107720		CDC	2006	While there is no evidence for a significant association of several common lipoprotein-related genetic variants with carotid IMT, our results are consistent with the previously reported role of CETP and LPL genetic variants in cardiovascular risk and the possible modulation of the association between hypertension and carotid IMT by APOCIII Sst-1 variant.											
144438		longevity	AGING	AGE		11	11q23.1-q23.2	APOC3	116205833	116208997		Atzmon, G.  et al. 2006	16602826				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Ashkenazi;Jewish		CDC GDP info	345	Hs.73849			PLoS Biol    2006    4(4)    e113	Lipoprotein genotype and conserved pathway for exceptional longevity in humans		107720		CDC	2006												
144439	Y	atherosclerosis, coronary lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertriglyceridemia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Martinelli, N.  et al. 2006	16682041				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Atherosclerosis    2006	The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease		107720		CDC	2006												
144440		cholesterol, HDL triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Thu, N. N.  et al. 2006	16702309				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Caucasian;Vietnamese;Asian		CDC GDP info	345	Hs.73849			J Nutr    2006    136(6)    1488-92	Plasma Triglyceride and HDL-Cholesterol Concentrations in Vietnamese Girls Are Affected by Lipoprotein Lipase, but Not Apolipoprotein CIII Polymorphism		107720		CDC	2006												
144441		cholesterol, HDL	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Brown, C. M.  et al. 2006	16705465				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	European		CDC GDP info	345	Hs.73849			J Mol Med    2006    84(7)    561-72	The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability		107720		CDC	2006												
144442		cholesterol cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Hamon, S. C.  et al. 2006	16710093				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	European		CDC GDP info	345	Hs.73849			Hum Hered    2006    61(2)    87-96	Evidence for Consistent Intragenic and Intergenic Interactions between SNP Effects in the APOA1/C3/A4/A5 Gene Cluster		107720		CDC	2006	Our analyses suggest that ignoring the contribution of interactions between SNP genotype effects when modeling multi-SNP genotype-phenotype relationships may result in an underestimate of the contribution of genetic variation to variation in quantitative cardiovascular disease (CVD) risk factor traits.											
144444		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Vaessen, S. F.  et al. 2006	16769999				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			J Lipid Res    2006	Apolipoprotein av, triglycerides and risk of future coronary artery disease in apparently healthy men and women; the prospective epic-norfolk population study		107720		CDC	2006												
144445	Y	cholesterol, HDL triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Qi, L.  et al. 2006	16781717				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Atherosclerosis    2006	Associations of the apolipoprotein A1/C3/A4/A5 gene cluster with triglyceride and HDL cholesterol levels in women with type 2 diabetes		107720		CDC	2006												
144446	Y	nephropathy, diabetic	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Ng, M.  et al. 2006	16813599				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Clin Genet    2006    70(1)    20-8	Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy		107720		CDC	2006												
144447	Y	hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	11	11q23.1-q23.2	APOC3	116205833	116208997		Huang, M. C.  et al. 2006	16864937				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1		Taiwan	CDC GDP info	345	Hs.73849			Circ J    2006    70(8)    1030-6	Effect of SstI Polymorphism of the Apolipoprotein CIII Gene and Environmental Factors on Risks of Hypertriglyceridemia in Taiwan Aborigines		107720		CDC	2006	The ApoCIII S2 variant and environmental factors, including education, tribal background, BMI and starchy food intake, modulate the risks of HTG in aboriginal Taiwanese.		body mass diet									
144449		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Yamada, Y.  et al. 2006	17016614				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Int J Mol Med    2006    18(5)    843-51	Genetic factors for obesity		107720		CDC	2006												
144450		cholesterol, HDL	METABOLIC	MET	Hyperlipoproteinemia Type II	11	11q23.1-q23.2	APOC3	116205833	116208997		Dedoussis, G. V.  et al. 2006	17020471				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Genet Test    2006    10(3)    192-9	Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients		107720		CDC	2006												
144451	P	cholesterol cholesterol, HDL cholesterol, LDL triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Chandak, G. R.  et al. 2006	17032446				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Caucasian;Indian;Asian		CDC GDP info	345	Hs.73849			BMC Med Genet    2006    7(1)    76	Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans		107720		CDC	2006	This is the first study to look at the role of APOA5 in Asian Indian subjects that reside in India.											
144453		diabetes, type 2 lipids triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Dorfmeister, B.  et al. 2006	17197160				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	European;Indian;Asian		CDC GDP info	345	Hs.73849			Biochim Biophys Acta    2006	The effect of APOA5 and APOC3 variants on lipid parameters in European Whites, Indian Asians and Afro-Caribbeans with type 2 diabetes		107720		CDC	2006												
144454	Y	gallstones	METABOLIC	MET	Gallstones	11	11q23.1-q23.2	APOC3	116205833	116208997		Yao, Y. G.  et al. 2007	17261136				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Chin J Dig Dis    2007    8(1)    52-57	Apolipoprotein AI-CIII-AIV gene cluster polymorphisms in relation to cholesterol gallstone		107720		CDC	2007	The data showed that Xmn I RFLP of ApoAI-CIII-AIV gene cluster is associated to some extent with cholesterol gallstones in female Chinese patients.											
144455		dyslipidemia heart disease, ischemic hypercholesterolemia hypertriglyceridemia	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Hussain, S. S.  et al. 1999	17283453				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Saudi		CDC GDP info	345	Hs.73849			Ann Saudi Med    1999    19(3)    201-5	Polymorphism in apoprotein-CIII gene and coronary heart disease		107720		CDC	1999	While the association between apoprotein-CIII variant allele and dyslipidemia could not be established in this study, the relationship between this marker and CHD was highlighted in the studied subjects.											
144456	Y	hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Bernard, N.  et al. 2007	17318300				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		107720		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
144457		triglycerides	METABOLIC	MET	Hypertriglyceridemia|Obesity	11	11q23.1-q23.2	APOC3	116205833	116208997		Brisson, D.  et al. 2007	17342071				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Canadian;French		CDC GDP info	345	Hs.73849			Int J Obes (Lond)    2007	Genetic epistasis in the VLDL catabolic pathway is associated with deleterious variations on triglyceridemia in obese subjects		107720		CDC	2007	When combined with abdominal obesity, epistasis in the VLDL pathway has a deleterious effect on fasting TG and coronary artery disease risk profile according to the TG threshold (1.		obesity									
144458	Y	cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	11	11q23.1-q23.2	APOC3	116205833	116208997		Fiegenbaum, M.  et al. 2007	17367769				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1	Brazilian;European	Brazil	CDC GDP info	345	Hs.73849			Clin Chim Acta    2007	Association between plasma lipid parameters and APOC3 genotypes in Brazilian subjects		107720		CDC	2007	APOC3 polymorphisms were associated with lipid variables, but the magnitude of these associations was modulated by additional genetic, biologic and/or environmental factors.		smoking (tobacco)									
144459	N	cholesterol	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Hubacek, J. A.  et al. 2007	17378725				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Clin Chem Lab Med    2007    45(3)    316-20	Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change		107720		CDC	2007	APOA4 and APOA5 variants may play an important role in the individual sensitivity of lipid parameters to dietary composition in men.		diet									
144461	N	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis	11	11q23.1-q23.2	APOC3	116205833	116208997		Nieminen, T.  et al. 2007	17457002				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Circ J    2007    71(5)    741-5	Apolipoprotein A-I/C-III/A-IV SstI and Apolipoprotein B XbaI Polymorphisms Do not Affect Early Functional and Structural Changes in Atherosclerosis		107720		CDC	2007	The polymorphisms apoA-I/C-III/A-IV SstI and apoB XbaI do not seem to affect carotid artery characteristics or brachial artery FMD in young adulthood.											
144463	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOC4	50137334	50140591		Klos, K. L.  et al. 2006	16763159				Apolipoprotein C-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG545333			CDC GDP info	346	Hs.491896			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		600745		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144464	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q26.2-qter	APOD	196776864	196792278			16402085				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2	Danish		CDC GDP info	347	Hs.522555			Pharmacogenomics J    2006	Apolipoprotein D is associated with long-term outcome in patients with schizophrenia		107740		CDC	2006												
144465	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q26.2-qter	APOD	196776864	196792278		Zhang, X.  et al. 2006	16966838				Apolipoprotein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001647.2			CDC GDP info	347	Hs.522555			Neuropsychobiology    2006    54(1)    40-44	Analysis of the Association between Apolipoprotein D and Schizophrenia		107740		CDC	2006												
144467			CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Moral, P.  et al. 2003	14746139				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European		CDC GDP info	348	Hs.515465			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		107741		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
144468		memory performance	NEUROLOGICAL	NEUR	Alzheimer Disease|Memory Disorders|Diseases in Twins	19	19q13.2	APOE	50100878	50104490			16402284				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Behav Genet    2006        1-10	Longitudinal Memory Performance During Normal Aging		107741		CDC	2006												
144469		cognitive ability	PSYCH	PSY		19	19q13.2	APOE	50100878	50104490			16417614				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Genes Brain Behav    2006    5 Suppl 1    23-31	Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population		107741		CDC	2006												
144470	P	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490			16423463				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Sardinian		CDC GDP info	348	Hs.515465			Neurosci Lett    2006	Genetic study of Sardinian patients with Alzheimer's disease		107741		CDC	2006	these results show the existence of Sardinian genetic peculiarities, essential in studies regarding genetically inherited and multifactorial disorders, as AD.											
144472	Y	macular degeneration	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490		Asensio-Sanchez, V. M.  et al. 2006	16450255				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Arch Soc Esp Oftalmol    2006    81(1)    9-12	Age-related macular degeneration		107741		CDC	2006	The APOE epsilon4 allele is not a protective factor for AMD, but is associated with$$$ an increased risk of its development.											
144473	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Wang, C.  et al. 2006	16459141				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	CDC GDP info	348	Hs.515465			Int J Hyg Environ Health    2006    209(3)    265-73	Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk		107741		CDC	2006	The results suggested that both apoE and apoCI on chromosome 19 were the susceptibility locus for CAD, their linkage disequilibrium should be responsible for the development of CAD.		alcohol smoking (tobacco)									
144474		Alzheimer's disease vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Wang, H. K.  et al. 2006	16465461				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Neural Transm    2006	Apolipoprotein E, angiotensin-converting enzyme and kallikrein gene polymorphisms and the risk of Alzheimer's disease and vascular dementia		107741		CDC	2006												
144475		oxidized LDL	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Gottlieb, M. G.  et al. 2005	16475114				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Genet Mol Res    2005    4(4)    691-703	Association among oxidized LDL levels, MnSOD, apolipoprotein E polymorphisms, and cardiovascular risk factors in a south Brazilian region population		107741		CDC	2005												
144477		C-reactive protein cholesterol, LDL lipoprotein	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Chasman, D. I.  et al. 2006	16511556				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDP info	348	Hs.515465			Genes Immun    2006    7(3)    211-9	Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein		107741		CDC	2006												
144479		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	19	19q13.2	APOE	50100878	50104490			16542392				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDP info	348	Hs.515465			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		107741		CDC	2006												
144480	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490			16543533				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Neurol Neurosurg Psychiatry    2006    77(4)    515-7	Genetic associations between cathepsin D exon 2 C->T polymorphism and Alzheimer's disease, and pathological correlations with genotype		107741		CDC	2006												
144481	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490			16544732	ApoE(E3, E2, E4)			Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	French;Israeli		CDC GDP info	348	Hs.515465			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		107741		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
144482	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Mineharu, Y.  et al. 2006	16574921				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Stroke    2006	Association Analysis of Common Variants of ELN, NOS2A, APOE and ACE2 to Intracranial Aneurysm		107741		CDC	2006	Investigated polymorphisms in this study were not associated with IA.											
144483		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bullido, M. J.  et al. 2006	16595160				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2006	A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers		107741		CDC	2006												
144484	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Zuo, L.  et al. 2006	16603077				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European		CDC GDP info	348	Hs.515465			Behav Brain Funct    2006    2(1)    13	Variation at APOE and STH loci and Alzheimer's disease		107741		CDC	2006	This study confirmed that the epsilon4 allele is a dose-response risk factor for AD and the epsilon4/epsilon4 genotype was associated with a significantly earlier age of onset. Moreover, we found that the epsilon2 allele was a dose-response protective factor for AD and the epsilon3 allele exerted a weaker dose-response protective effect for risk of AD compar											
144486		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Garenc, C.  et al. 2006	16630553				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Quebec	CDC GDP info	348	Hs.515465			Biochem Biophys Res Commun    2006	Gene polymorphisms in the Quebec population		107741		CDC	2006												
144487	N	gallstones	METABOLIC	MET	Cholelithiasis|Gallstones|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Dixit, M.  et al. 2006	16631424				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Dig Liver Dis    2006	Association of APOE-C1 gene cluster polymorphisms with gallstone disease		107741		CDC	2006	APOC1 HpaI polymorphism is associated with gallstone disease and shows gender-specific differences. APOE HhaI polymorphism may not be associated with gallstone disease.											
144488		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Depboylu, C.  et al. 2006	16650578				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		Germany	CDC GDP info	348	Hs.515465			Neurosci Lett    2006	alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease		107741		CDC	2006												
144490	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Kuwano, R.  et al. 2006	16740596				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Hum Mol Genet    2006    15(13)    2170-82	Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease		107741		CDC	2006												
144491	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Klos, K. L.  et al. 2006	16763159				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		107741		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144492		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Postmortem Changes	19	19q13.2	APOE	50100878	50104490		Buckley, S. T.  et al. 2006	16766085				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDP info	348	Hs.515465			Neurochem Int    2006	GABA(A) receptor beta isoform protein expression in human alcoholic brain		107741		CDC	2006												
144494	Y	nephropathy, diabetic	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 2	19	19q13.2	APOE	50100878	50104490		Ng, M.  et al. 2006	16813599				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Clin Genet    2006    70(1)    20-8	Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy		107741		CDC	2006												
144495	N	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Infarction, Middle Cerebral Artery	19	19q13.2	APOE	50100878	50104490		Fernandez-Cadenas, I.  et al. 2006	16832771				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurologia    2006    21(4)    176-80	ApoE genotype influences on efficacy and safety of thrombolytic treatment for ischemic stroke		107741		CDC	2006	In our group of stroke patients, ApoE genotypes are not related with the presence of hemorrhagic transformations neither with the rates of recanalization following thrombolytic treatment.											
144496		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	19	19q13.2	APOE	50100878	50104490		Baba, Y.  et al. 2006	16839689				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurosci Lett    2006	Effect of MAPT and APOE on prognosis of progressive supranuclear palsy		107741		CDC	2006												
144497		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Blood Coagulation Disorders|Vitamin K Deficiency	19	19q13.2	APOE	50100878	50104490		Sconce, E. A.  et al. 2006	16847429				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Pharmacogenet Genomics    2006    16(8)    609-611	APOE genotype makes a small contribution to warfarin dose requirements		107741		CDC	2006												
144498		attention brain white matter	AGING	AGE		19	19q13.2	APOE	50100878	50104490		Espeseth, T.  et al. 2006	16869227				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Cogn Affect Behav Neurosci    2006    6(1)    31-43	Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults		107741		CDC	2006												
144499		cholesterol, LDL	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490		Takane, H.  et al. 2006	16917677				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Hum Genet    2006	Pharmacogenetic determinants of variability in lipid-lowering response to pravastatin therapy		107741		CDC	2006			pravastatin									
144500		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Licastro, F.  et al. 2006	16930778				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		107741		CDC	2006												
144501	N	macular degeneration	VISION	VIS	Macular Degeneration	19	19q13.2	APOE	50100878	50104490		Kaur, I.  et al. 2006	16936080				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Indian		CDC GDP info	348	Hs.515465			Invest Ophthalmol Vis Sci    2006    47(9)    3729-35	Analysis of CFH, TLR4, and APOE Polymorphism in India Suggests the Tyr402His Variant of CFH to be a Global Marker for Age-Related Macular Degeneration		107741		CDC	2006	The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis.											
144502	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Jia, L.  et al. 2006	16938285			Intron	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	CDC GDP info	348	Hs.515465			Brain Res    2006	Association between presenilin 1 intronic polymorphism and late onset Alzheimer's disease in the North Chinese population		107741		CDC	2006	we found an association between presenilin 1 intronic polymorphism and LOAD, but no influence of APOE epsilon4 on the distribution of the PS1 intronic polymorphism.											
144503		sleep disorders	NEUROLOGICAL	NEUR	Alzheimer Disease|Sleep Deprivation|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Craig, D.  et al. 2006	16944667				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Sleep    2006    29(8)    1003-7	Genetically increased risk of sleep disruption in Alzheimer's disease		107741		CDC	2006	We conclude that sleep disturbance in AD is common and distressing and is associated with$$$ genetic variation at MAO-A.											
144504		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Cellini, E.  et al. 2006	16996683				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian		CDC GDP info	348	Hs.515465			Neurosci Lett    2006	Association analysis of the paraoxonase-1 gene with Alzheimer's disease		107741		CDC	2006												
144506		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	19	19q13.2	APOE	50100878	50104490		Yamaguchi, S.  et al. 2006	17016617				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		107741		CDC	2006												
144507	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		19	19q13.2	APOE	50100878	50104490		Wadelius, M.  et al. 2006	17048007				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		107741		CDC	2006												
144508		Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Chiappelli, M.  et al. 2006	17105389				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Rejuvenation Res    2006    9(4)    485-493	VEGF Gene and Phenotype Relation with Alzheimer's Disease and Mild Cognitive Impairment		107741		CDC	2006												
144510		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Corder, E. H.  et al. 2006	17116317				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		107741		CDC	2006												
144511		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	APOE	50100878	50104490		Humphries, S. E.  et al. 2006	17130180				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		107741		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
144513		depression	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder	19	19q13.2	APOE	50100878	50104490		Micheli, D.  et al. 2006	17183148				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Alzheimers Dis    2006    10(4)    371-8	No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease		107741		CDC	2006												
144514		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bertram, L.  et al. 2007	17192785				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		107741		CDC	2007	odds ratios (ranging from 1.											
144515		cognitive performance	AGING	AGE		19	19q13.2	APOE	50100878	50104490		Togsverd, M.  et al. 2007	17200925				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Int J Geriatr Psychiatry    2007	Cognitive performance in elderly women		107741		CDC	2007	The 19bp insertion/deletion polymorphism of the DBH gene influences cognition in elderly women and might have a stronger effect than APOE epsilon4 allele status on mild cognitive impairment. Both genetic polymorphisms had a significantly smaller impact on cognition than age, education, alcohol consumption and body fat measures. Copyright (c) 2006 John Wiley & Sons, Ltd.											
144517	Y	cognitive function	PSYCH	PSY	Cognition Disorders|Bipolar Disorder	19	19q13.2	APOE	50100878	50104490		Savitz, J.  et al. 2007	17210134				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Biol Psychiatry    2007	Genotype and Childhood Sexual Trauma Moderate Neurocognitive Performance		107741		CDC	2007	Apolipoprotein E and BDNF exert a neurotrophic effect in response to cellular injury.		sexual abuse									
144518		macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization	19	19q13.2	APOE	50100878	50104490		Deangelis, M. M.  et al. 2007	17210851				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Arch Ophthalmol    2007    125(1)    49-54	Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular Degeneration		107741		CDC	2007	Smoking and having the CFH CC genotype independently increase risk of neovascular AMD.		smoking (tobacco)									
144520	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Jia, L.  et al. 2007	17280645				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2		China	CDC GDP info	348	Hs.515465			Brain Res    2007	Genetic association between polymorphisms of Pen2 gene and late onset Alzheimer's disease in the North Chinese population		107741		CDC	2007												
144521		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Huang, R.  et al. 2007	17293537				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Med Genet    2007    44(2)    e66	Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's disease		107741		CDC	2007	The combination of the diplotypes for three SNPs exhibited significant p values for Alzheimer\s APOE 4 non-carriers. The two SNPs (rs11030104 and rs2049045) are found between exons VI and VII, while the Val66Met polymorphism is located in the coding exon VIII; the total distance for the three SNPs is 14308 bp. Whether the SNPs are involved with alternative s											
144522	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		Bossu, P.  et al. 2007	17299019				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Neurol Neurosurg Psychiatry    2007	Interleukin-18 gene polymorphisms predict risk and outcome of Alzheimer's disease		107741		CDC	2007	As IL-18 cytokine promoter gene polymorphisms have been previously described to have functional consequences on IL-18 expression, it is possible that individuals with a prevalent IL-18 gene variant have a dysregulated immune response, suggesting that IL-18 mediated immune mechanisms may play a crucial role in AD.											
144523		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Duric, G.  et al. 2007	17304721				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Vojnosanit Pregl    2007    64(1)    25-30	Polymorphisms in the genes of citohrom oxidase P450 2D6 (CYP2D6), paraoxonase 1 (PON1) and apolipoproteine E (APOE) as risk factors for Parkinson's disease		107741		CDC	2007	The results of our study suggest that the genotypes A/A and M/M genes of CYP2D6 and PON1, and allele epsilon4 gene are an important risk for the development of PD, causing its early onset. The cumulative effects of the risk genes cause an early onset of PD.											
144525		warfarin sensitivity	PHARMACOGENOMIC	PHARM		19	19q13.2	APOE	50100878	50104490		Kimmel, S. E.  et al. 2007	17325732				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	African American;Caucasian		CDC GDP info	348	Hs.515465			Pharmacogenomics J    2007	Apolipoprotein E genotype and warfarin dosing among Caucasians and African Americans		107741		CDC	2007												
144526		left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	19	19q13.2	APOE	50100878	50104490		Meyers, K. J.  et al. 2007	17339538				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Hypertension    2007	Genetic Variations Associated With Echocardiographic Left Ventricular Traits in Hypertensive Blacks		107741		CDC	2007												
144527		triglycerides	METABOLIC	MET	Hypertriglyceridemia|Obesity	19	19q13.2	APOE	50100878	50104490		Brisson, D.  et al. 2007	17342071				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Canadian;French		CDC GDP info	348	Hs.515465			Int J Obes (Lond)    2007	Genetic epistasis in the VLDL catabolic pathway is associated with deleterious variations on triglyceridemia in obese subjects		107741		CDC	2007	When combined with abdominal obesity, epistasis in the VLDL pathway has a deleterious effect on fasting TG and coronary artery disease risk profile according to the TG threshold (1.		obesity									
144529	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2	APOE	50100878	50104490		Ramagopalan, S. V.  et al. 2007	17376543				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Neuroimmunol    2007	No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis		107741		CDC	2007	APOE and PVRL2 have little or no effect on the clinical outcome of MS.											
144530		Alzheimer's disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Galimberti, D.  et al. 2007	17418914			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2007	Association of a NOS1 promoter repeat with Alzheimer's disease		107741		CDC	2007												
144531		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Nowotny, P.  et al. 2007	17427190				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP)		107741		CDC	2007												
144533		heart disease, ischemic	CARDIOVASCULAR	CARD	Heart Diseases|Myocardial Ischemia	19	19q13.2	APOE	50100878	50104490		Dyson, G.  et al. 2007	17436307				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Genet Epidemiol    2007	An application of the patient rule-induction method for evaluating the contribution of the Apolipoprotein E and Lipoprotein Lipase genes to predicting ischemic heart disease		107741		CDC	2007												
144534	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Poli, M.  et al. 2007	17466415				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian		CDC GDP info	348	Hs.515465			Neurobiol Aging    2007	Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease		107741		CDC	2007												
144535		cardiovascular disease cholesterol, LDL diabetes, type 2 triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2|Metabolic Syndrome X|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Fisher, E.  et al. 2007	17485234				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	European		CDC GDP info	348	Hs.515465			Mol Genet Metab    2007	L-FABP T94A is associated with fasting triglycerides and LDL-cholesterol in women		107741		CDC	2007	our study provides evidence for an association of the FABP1 T94A polymorphism and fasting triglycerides and LDL-cholesterol levels in females. These results support previous findings in fenofibrate-treated individuals and thereby provide some additional indication of the functional relevance of the FABP1 T94A SNP in hepatic fatty acid and lipid metabolism in humans.											
144536	N	exfoliation syndrome	VISION	VIS	Exfoliation Syndrome	19	19q13.2	APOE	50100878	50104490		Ritland, J. S.  et al. 2007	17488453				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Acta Ophthalmol Scand    2007    85(3)    257-61	Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome		107741		CDC	2007	We found no significant difference in RNFL thickness at the optic disc in the different genotype carriers of the APOE and CHRNA4 genes, and thereby no evidence for increased loss of ganglion cells in the retina as an effect of these genes.											
144538		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Piccardi, M.  et al. 2007	17503475				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Sardinian		CDC GDP info	348	Hs.515465			Am J Med Genet B Neuropsychiatr Genet    2007	Alzheimer's disease		107741		CDC	2007												
144540	N	body mass cholesterol cholesterol, LDL glucose insulin lipids	METABOLIC	MET	Weight Loss	19	19q13.2	APOE	50100878	50104490		Nieminen, T.  et al. 2007	17570245				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Metabolism    2007    56(7)    876-80	The relationship of sterol regulatory element-binding protein cleavage-activation protein and apolipoprotein E gene polymorphisms with metabolic changes during weight reduction		107741		CDC	2007	neither the SCAP Ile796Val nor the apo E polymorphism was associated with weight loss in obese premenopausal women.		diet									
144541		cognitive function executive function memory disturbance	PSYCH	PSY	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	19	19q13.2	APOE	50100878	50104490		McQueen, M. B.  et al. 2007	17579348				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Am J Med Genet B Neuropsychiatr Genet    2007	Exploring candidate gene associations with neuropsychological performance		107741		CDC	2007												
144542	N	Alzheimer's disease	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Cacao Jde, C.  et al. 2007	17607431				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Arq Neuropsiquiatr    2007    65(2A)    295-8	Apolipoprotein e polymorphism in first-degree relatives of patients with familial or sporadic Alzheimer's disease.		107741		CDC	2007	Apo E polymorphism has not differentiated familial from sporadic AD.											
144543		cognitive impairment	PSYCH	PSY	Alzheimer Disease|Disease Progression	19	19q13.2	APOE	50100878	50104490		Andersson, M. E.  et al. 2007	17611642				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Int J Mol Med    2007    20(2)    233-9	Kinesin gene variability may affect tau phosphorylation in early Alzheimer's disease		107741		CDC	2007												
144544	Y	dementia	PSYCH	PSY		19	19q13.2	APOE	50100878	50104490		Helbecque, N.  et al. 2007	17614163				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2007	Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia		107741		CDC	2007												
144545	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	19	19q13.2	APOE	50100878	50104490		Ashley-Koch, A. E.  et al. 2007	17621165				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian		CDC GDP info	348	Hs.515465			Psychiatr Genet    2007    17(4)    221-226	Investigation of potential gene-gene interactions between apoe and reln contributing to autism risk		107741		CDC	2007	there is no main effect of APOE in our autism data set, nor is there any evidence for a joint effect of APOE with RELN.											
144546	P	antiphospholipid syndrome	IMMUNE	IMM	Autoimmune Diseases|Antiphospholipid Syndrome	17	17q23-qter	APOH	61638612	61655992		Swadzba, J.  et al. 2006	16686261				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1	Caucasian;Polish		CDC GDP info	350	Hs.445358			Lupus    2006    15(4)    218-22	Valine/Leucine247 polymorphism of beta2-glycoprotein I in patients with antiphospholipid syndrome		138700		CDC	2006	among the exclusively Caucasian, Polish population of autoimmune patients beta2GPI Val/Leu247SNP has the same distribution as in healthy subjects and does not influence the production of anti-beta2GPI antibodies.											
144547		arterial thrombosis thromboembolism, venous	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Thrombosis|Venous Thrombosis|Thrombophilia	17	17q23-qter	APOH	61638612	61655992		Palomo, I.  et al. 2006	16724168				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDP info	350	Hs.445358			Clin Rheumatol    2006	Val/Leu(247) and Trp/Ser(316) polymorphisms in beta (2) glycoprotein I and their association with thrombosis in unselected Chilean patients		138700		CDC	2006	the beta (2)GPI polymorphisms Val/Leu(247) and Trp/Ser(316) are not related to the presence of anti-beta (2)GPI antibodies in unselected Chilean patients with venous and arterial thrombosis, but they are significantly associated with venous and arterial thrombosis.											
144548	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.33	APOM	31728199	31733966		Niu, N.  et al. 2006	16572495			promoter	Apolipoprotein M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019101.2			CDC GDP info	55937	Hs.534468			Diabetes Metab Res Rev    2006	Single nucleotide polymorphisms in the proximal promoter region of apolipoprotein M gene (apoM) confer the susceptibility to development of type 2 diabetes in Han Chinese		606907		CDC	2006	The present study provided the first evidence that SNP T-778C in the proximal promoter region of apoM gene was associated with the levels of plasma CHO and FPG and also conferred the risk in the development of T2D among Han Chinese.											
144550	P	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003			16423463				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2	Sardinian		CDC GDP info	351	Hs.642685			Neurosci Lett    2006	Genetic study of Sardinian patients with Alzheimer's disease		104760		CDC	2006	these results show the existence of Sardinian genetic peculiarities, essential in studies regarding genetically inherited and multifactorial disorders, as AD.											
144551	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Theuns, J.  et al. 2006	16685645			promoter	Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDP info	351	Hs.642685			Am J Hum Genet    2006    78(6)    936-46	Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease		104760		CDC	2006												
144552		Alzheimer's disease	NEUROLOGICAL	NEUR		21	21q21.2	APP	26174731	26465003		Lv, H.  et al. 2006	17112637			promoter	Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDP info	351	Hs.642685			Neurobiol Aging    2006	Promoter polymorphisms which modulate APP expression may increase susceptibility to Alzheimer's disease		104760		CDC	2006												
144553		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	21	21q21.2	APP	26174731	26465003		Guyant-Marechal, L.  et al. 2007	17325276			promoter	Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2		France	CDC GDP info	351	Hs.642685			Neurology    2007    68(9)    684-7	Variations in the APP gene promoter region and risk of Alzheimer disease		104760		CDC	2007												
144554		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Scacchi, R.  et al. 2007	17412506				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDP info	351	Hs.642685			Neurosci Lett    2007	A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease		104760		CDC	2007												
144556	Y	cognitive function	PSYCH	PSY	Alzheimer Disease	21	21q21.2	APP	26174731	26465003		Harris, S. E.  et al. 2007	17601350				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDP info	351	Hs.642685			BMC Genet    2007    8(1)    43	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition		104760		CDC	2007	This study suggests a possible role for APP in normal cognitive ageing, in addition to its role in Alzheimers disease.											
144557	N	anthropometric measurements body mass cholesterol cholesterol, HDL cholesterol, LDL fatty acid glycerol insulin triglycerides	METABOLIC	MET	Prediabetic State|Insulin Resistance|Dyslipidemias|Inflammation	3	3p21.1-p14.3	APPL1	57236804	57282538		Staiger, H.  et al. 2007	17490420				Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012096			CDC GDP info	26060	Hs.476415			Diabet Med    2007	Genetic variation within the APPL locus is not associated with metabolic or inflammatory traits in a healthy White population				CDC	2007	genetic variation within the APPL locus may not play a major role in the development of prediabetes phenotypes.											
144558			NORMALVARIATION	NV		7	7p14	AQP1	30917992	30931656		Yan, L.  et al. 2005	15783300				Aquaporin 1 (channel-forming integral protein, 28kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198098.1		China	CDC GDP info	358	Hs.76152			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		107776		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
144560	Y	diabetes, type 2 obesity	METABOLIC	MET	Metabolic Diseases|Diabetes Mellitus, Type 2|Obesity|Obesity, Morbid	9	9p13	AQP7	33374764	33392517		Prudente, S.  et al. 2007	17351148				Aquaporin 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC119673	Caucasian		CDC GDP info	364	Hs.455323			Diabetes    2007	A functional variant of the adipocyte glycerol channel Aquaporin 7 gene is associated with obesity and related metabolic abnormalities		602974		CDC	2007												
144561		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		X	Xq11.2-q12	AR	66680598	66860844		Comings, D. E.  et al. 2000	11140838				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		313700		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144562	Y	azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia	X	Xq11.2-q12	AR	66680598	66860844		Li, Z. X.  et al. 2005	15934454				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Zhonghua Nan Ke Xue    2005    11(5)    335-8, 342	(CAG) n polymorphism of androgen receptor gene in idiopathic azoospermic and oligospermic Chinese men		313700		CDC	2005	The polymorphism of the repeat length of the (CAG) n satellite in androgen receptor gene may affect spermatogenesis and have a less important role in male infertility.											
144563	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844			16425097	short AR CAG alleles	short AR CAG alleles increases a man\s risk of developing prostate cancer.		Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Cancer Causes Control    2006    17(2)    187-97	Genetic Susceptibility to Prostate Cancer		313700		CDC	2006	We found evidence that the PSA*2*2 diplotype in combination with short AR CAG alleles increases a man\s risk of developing prostate cancer. These findings support an etiologic role in prostate cancer of genetic interactions between polymorphisms that increase AR transactivation strength and those that alter the regulatory regions of target genes such as PSA that are responsive to androgen stimulation.											
144564		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Disease Progression	X	Xq11.2-q12	AR	66680598	66860844		Anghel, A.  et al. 2006	16791593				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			J Cancer Res Clin Oncol    2006	Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer		313700		CDC	2006	Our results confirm previous reports regarding an association between longer CAG repeats and breast cancer.											
144565		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Okugi, H.  et al. 2006	16859836				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Cancer Detect Prev    2006	Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population		313700		CDC	2006	Genetic polymorphisms of the genes involved in androgen metabolism and signaling were significantly associated with familial prostate cancer risk.											
144566	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Klinefelter Syndrome|Chromosome Aberrations	X	Xq11.2-q12	AR	66680598	66860844		Katagiri, Y.  et al. 2006	16865224				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Caucasian		CDC GDP info	367	Hs.496240			Int J Mol Med    2006    18(3)    405-13	Androgen receptor CAG polymorphism (Xq11-12) status and human spermatogenesis		313700		CDC	2006	severely oligo- and azoospermic men had longer CAG repeat length than fertile controls, suggesting that certain AR gene mutations may have a negative effect on spermatogenesis. An increased incidence of de novo gonosomal abnormalities was found in the ICSI offspring when compared to children conceived naturally. Our assessment of the polymorphic region of the AR gene, in the absence of other specific genomic abnormalities, suggests that the fertility of children conceived by ICSI may be conserved.											
144568	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Andersson, P.  et al. 2006	17010601				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Eur J Cancer    2006	Androgen receptor and vitamin D receptor gene polymorphisms and prostate cancer risk		313700		CDC	2006	men with a short CAG repeat in the androgen receptor gene have an increased risk of developing prostate cancer.											
144569		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Lindstrom, S.  et al. 2006	17108148				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Cancer Res    2006    66(22)    11077-11083	Germ-Line Genetic Variation in the Key Androgen-Regulating Genes Androgen Receptor, Cytochrome P450, and Steroid-5-{alpha}-Reductase Type 2 Is Important for Prostate Cancer Development		313700		CDC	2006												
144570		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Corder, E. H.  et al. 2006	17116317				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		313700		CDC	2006												
144571			NORMALVARIATION	NV		X	Xq11.2-q12	AR	66680598	66860844		Tiido, T.  et al. 2007	17244640				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Mol Hum Reprod    2007	Modifying effect of the AR gene trinucleotide repeats and SNPs in the AHR and AHRR genes on the association between persistent organohalogen pollutant exposure and human sperm Y		313700		CDC	2007	 The endocrine-disrupting action of POPs, in relation to the observed changes in sperm Y:X ratio, may be modulated by the genes involved in sex steroid and dioxin-mediated pathways.		organohalogen pollutants, persistent									
144572		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq11.2-q12	AR	66680598	66860844		Mittal, R. D.  et al. 2006	17257635				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Steroids    2006	Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population?		313700		CDC	2006												
144573		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	X	Xq11.2-q12	AR	66680598	66860844		Geng, Y. G.  et al. 2007	17365134				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Int J Neurosci    2007    117(4)    539-47	COMPARISON OF THE POLYMORPHISMS OF ANDROGEN RECEPTOR GENE AND ESTROGEN alpha AND beta GENE BETWEEN ADOLESCENT FEMALES WITH FIRST-ONSET MAJOR DEPRESSIVE DISORDER AND CONTROLS		313700		CDC	2007												
144576	Y	intima-media thickness myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6q23	ARG1	131936057	131947161		Dumont, J.  et al. 2007	17369504	ARG1 rs2781666			Arginase, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000045.2			CDC GDP info	383	Hs.440934			J Med Genet    2007	Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima-media thickness	rs2781666	608313		CDC	2007	The ARG1 rs2781666 polymorphism was consistently associated with MI and an increased common carotid intima-media thickness. Our findings reinforce the hypothesis of a significant role of ARG1 in vascular pathophysiology.											
144577	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Cell Transformation, Neoplastic	1	1q21	ARHGEF11	155171255	155281786		Gu, J.  et al. 2006	16691626				Rho guanine nucleotide exchange factor (GEF) 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057394	Caucasian;Mexican;Mexican American		CDC GDP info	9826	Hs.516954			Cancer    2006	A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans				CDC	2006	To the authors\ knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.											
144578		diabetes, type 2	METABOLIC	MET		1	1q21	ARHGEF11	155171255	155281786		Ma, L.  et al. 2007	17261673				Rho guanine nucleotide exchange factor (GEF) 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057394	Indian;Pima Indians		CDC GDP info	9826	Hs.516954			Diabetes    2007	Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians				CDC	2007												
144579		diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	1	1q21	ARHGEF11	155171255	155281786		Ma, L.  et al. 2007	17287471				Rho guanine nucleotide exchange factor (GEF) 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057394	Indian;Pima Indians		CDC GDP info	9826	Hs.516954			Diabetes    2007	Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians				CDC	2007												
144580		diabetes, type 2 glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21	ARHGEF11	155171255	155281786		Fu, M.  et al. 2007	17369523				Rho guanine nucleotide exchange factor (GEF) 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057394	Indian;Pima Indians		CDC GDP info	9826	Hs.516954			Diabetes    2007	Evidence that Rho Guanine Nucleotide Exchange Factor 11 (ARHGEF11) on 1q21 is a type 2 diabetes susceptibility gene in the Old Order Amish				CDC	2007												
144581	Y	glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23.3	ARHGEF12	119713155	119865855		Kovacs, P.  et al. 2006	16644711		ARHGEF12  Tyr1306Cys		Rho guanine nucleotide exchange factor (GEF) 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF180681	Indian;Pima Indians		CDC GDP info	23365	Hs.24598			Diabetes    2006    55(5)    1497-503	A Functional Tyr1306Cys Variant in LARG Is Associated With Increased Insulin Action in Vivo		604763		CDC	2006												
144583		breast cancer laryngeal cancer melanoma prostate cancer thyroid cancer	CANCER	CAN	Neoplasms|Melanoma|Breast Neoplasms|Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732		Masojc, B.  et al. 2006	16570116				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDP info	115761	Hs.558599			Breast Cancer Res Treat    2006	Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene		609351		CDC	2006												
144584		leukemia, lymphoid	CANCER	CAN	Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732		Sellick, G. S.  et al. 2006	16581122				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDP info	115761	Hs.558599			Leuk Res    2006	Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia		609351		CDC	2006												
144585		melanoma	CANCER	CAN	Melanoma	13	13q14.2	ARL11	49100624	49105732		Frank, B.  et al. 2006	16646072				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDP info	115761	Hs.558599			Int J Cancer    2006	ARLTS1 variants and melanoma risk		609351		CDC	2006												
144586	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Chronic|Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732		Ng, D.  et al. 2007	17391501				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDP info	115761	Hs.558599			Br J Haematol    2007    137(2)    173-5	No association of ARLTS1 polymorphisms and risk for familial chronic lymphocytic leukaemia		609351		CDC	2007												
144587	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732		Castellvi-Bel, S.  et al. 2007	17449901				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3			CDC GDP info	115761	Hs.558599			Carcinogenesis    2007	ASSOCIATION OF THE ARLTS1 CYS148ARG VARIANT WITH SPORADIC AND FAMILIAL COLORECTAL CANCER		609351		CDC	2007												
144589		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3		ARL6IP5	69216779	69237929		Li, C. P.  et al. 2007	17479401				ADP-ribosylation-like factor 6 interacting protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006407.3		Texas|China	CDC GDP info	10550	Hs.518060			J Toxicol Environ Health A    2007    70(11)    876-84	Functional polymorphisms of JWA gene are associated with risk of bladder cancer				CDC	2007	the three novel functional genetic polymorphisms of JWA gene, -76GC, 454CA, and 723TG, appear to contribute to the etiology of bladder cancer.											
144590		esophageal cancer stomach cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	3		ARL6IP5	69216779	69237929		Tang, W. Y.  et al. 2007	17479402				ADP-ribosylation-like factor 6 interacting protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006407.3		China	CDC GDP info	10550	Hs.518060			J Toxicol Environ Health A    2007    70(11)    885-94	Identification and functional characterization of JWA polymorphisms and their association with risk of gastric cancer and esophageal squamous cell carcinoma in a Chinese population				CDC	2007												
144591		leukemia	CANCER	CAN	Leukemia|Genetic Predisposition to Disease	3		ARL6IP5	69216779	69237929		Zhu, Y. J.  et al. 2007	17479403				ADP-ribosylation-like factor 6 interacting protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006407.3		China	CDC GDP info	10550	Hs.518060			J Toxicol Environ Health A    2007    70(11)    895-900	Single nucleotide polymorphism of the JWA gene is associated with risk of leukemia				CDC	2007	the potentially functional genetic polymorphism 454CA of the JWA gene appears to contribute to the risk of multiple kinds of leukemia in a south Chinese population.											
144592		macular degeneration	VISION	VIS	Macular Degeneration	10	10q26.13	ARMS2	124204168	124206858		Ross, R. J.  et al. 2007	17325155				Age-related maculopathy susceptibility 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CB998303			CDC GDP info	387715	Hs.120359			Invest Ophthalmol Vis Sci    2007    48(3)    1128-32	The LOC387715 Polymorphism and Age-Related Macular Degeneration				CDC	2007	Although these data from three case-control samples support an AMD genetic risk marker harbored within LOC387715, the nested case-control data from the population-based BMES samples showed lower estimates than from the clinic-based samples. This may be because the BMES samples consisted of largely early AMD cases while the clinic-based AMD samples consisted exclusively of advanced cases.											
144593	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q26.13	ARMS2	124204168	124206858		Francis, P. J.  et al. 2007	17347568				Age-related maculopathy susceptibility 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CB998303			CDC GDP info	387715	Hs.120359			Hum Hered    2007    63(3-4)    212-218	The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration				CDC	2007	The number of risk alleles at the LOC387715 SNP was associated with advanced AMD, with odds ratios (OR) = 3.0 (95% confidence interval (CI) 2.1-4.3) for the GT heterozygous genotype and OR = 12.1 (5.6-26.5) for the homozygous TT risk genotype, after controlling for demographic and behavioral risk factors. The LOC387715 SNP was associated with both forms of advanced AMD. Current cigarette smoking and body mass index were independently related to AMD, controlling for genotype. However, there was no statistical interaction between LOC387715 genotype and smoking with regard to advanced AMD development.		smoking (tobacco)									
144595		macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization|Genetic Predisposition to Disease	10	10q26.13	ARMS2	124204168	124206858		Cameron, D. J.  et al. 2007	17426452				Age-related maculopathy susceptibility 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CB998303			CDC GDP info	387715	Hs.120359			Cell Cycle    2007    6(9)	HTRA1 Variant Confers Similar Risks to Geographic Atrophy and Neovascular Age-related Macular Degeneration				CDC	2007												
144596		macular degeneration	VISION	VIS	Macular Degeneration|Disease Progression	10	10q26.13	ARMS2	124204168	124206858		Seddon, J. M.  et al. 2007	17456821				Age-related maculopathy susceptibility 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CB998303			CDC GDP info	387715	Hs.120359			JAMA    2007    297(16)    1793-800	Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration				CDC	2007	Common polymorphisms in the genes CFH and LOC387715 are independently related to AMD progression after adjustment for other known AMD risk factors.		body mass smoking (tobacco)									
144597	N	azoospermia infertility, male oligospermia	REPRODUCTION	REP	Infertility, Male	1	1q21	ARNT	149048809	149115810		Merisalu, A.  et al. 2007	17559847				Aryl hydrocarbon receptor nuclear translocator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001668.2			CDC GDP info	405	Hs.632446			Fertil Steril    2007	The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility		126110		CDC	2007	We demonstrated that the AHRR Pro185Ala polymorphism contributed to a predisposition to male factor infertility in the Estonian population.											
144598		bipolar disorder schizoaffective disorder schizophrenia	PSYCH	PSY	Chronobiology Disorders|Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders|Schizophrenia	11	11p15	ARNTL	13255900	13365388		Mansour, H. A.  et al. 2006	16507006				Aryl hydrocarbon receptor nuclear translocator-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001030273	Caucasian		CDC GDP info	406	Hs.65734			Genes Brain Behav    2006    5(2)    150-7	Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia		602550		CDC	2006												
144600	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	7	7q22.1	ARPC1A	98761445	98801821		Piepoli, A.  et al. 2006	17072959				Actin related protein 2/3 complex, subunit 1A, 41kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006409	Italian	Italy	CDC GDP info	10552	Hs.124126			World J Gastroenterol    2006    12(39)    6343-6348	Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients				CDC	2006	UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.											
144601	Y	nicotine dependence	CHEMDEPENDENCY	CHEM		11		ARRB1	74654129	74740521		Sun, D.  et al. 2007	17579607				Arrestin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004041.3	African American;European		CDC GDP info	408	Hs.503284			Mol Psychiatry    2007	beta-Arrestins 1 and 2 are associated with nicotine dependence in European American smokers		107940		CDC	2007	our results provide the first evidence of a significant association for ARRB1 and ARRB2 variants with ND in an EA sample.											
144602	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17p13	ARRB2	4560537	4571544		Brookes, K. et al  et al. 2006	16894395				Arrestin, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004313.3			CDC GDP info	409	Hs.435811			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		107941		CDC	2006												
144603	Y	methamphetamine abuse schizophrenia	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Schizophrenia	17	17p13	ARRB2	4560537	4571544		Ikeda, M.  et al. 2007	17233643				Arrestin, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004313.3			CDC GDP info	409	Hs.435811			Genes Brain Behav    2007    6(1)    107-12	Possible association of beta-arrestin 2 gene with methamphetamine use disorder, but not schizophrenia		107941		CDC	2007												
144604	Y	nicotine dependence	CHEMDEPENDENCY	CHEM		17	17p13	ARRB2	4560537	4571544		Sun, D.  et al. 2007	17579607				Arrestin, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004313.3	African American;European		CDC GDP info	409	Hs.435811			Mol Psychiatry    2007	beta-Arrestins 1 and 2 are associated with nicotine dependence in European American smokers		107941		CDC	2007	our results provide the first evidence of a significant association for ARRB1 and ARRB2 variants with ND in an EA sample.											
144605		anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	22	22q11.21	ARVCF	18337418	18384309		Michaelovsky, E.  et al. 2005	16118784				angiogenin, ribonuclease, RNase A family, 5		Israeli;Jewish		CDC GDP info	421	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2005    139(1)    45-50	Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios		602269		CDC	2005												
144606		autism	PSYCH	PSY	Autistic Disorder	X	Xp22.1-p21.3	ARX	24932212	24943775		Chaste, P.  et al. 2006	17044103				Aristaless related homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139058.1			CDC GDP info	170302	Hs.300304			Am J Med Genet B Neuropsychiatr Genet    2006	Mutation screening of the ARX gene in patients with autism		300382		CDC	2006												
144607		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute	5	5p15.1	AS	14762018	14924876		Luo, C. Y.  et al. 2007	17493332			promoter	Ankylosis, progressive homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_054027			CDC GDP info	56172	Hs.156727			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(2)    283-7	Single Nucleotide Polymorphism in the Promoter Region of Aspa-ragine Synthetase and Its Impact on the Gene Expression.		106300		CDC	2007												
144608	Y	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	10	10q24.32	AS3MT	104604008	104651645		Engstrom, K. S.  et al. 2007	17450230				Arsenic (+3 oxidation state) methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020682.3			CDC GDP info	57412	Hs.123461			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism				CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
144610	P		NORMALVARIATION	NV		20	20q11.2-q12	ASIP	32311831	32320809		Voisey, J.  et al. 2006	16704456				Agouti signaling protein, nonagouti homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001672.2	Australian;CaucEuropean		CDC GDP info	434	Hs.432400			Pigment Cell Res    2006    19(3)    226-31	A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA		600201		CDC	2006												
144611	N	cognitive function head circumference social intelligence	PSYCH	PSY		1	1q31	ASPM	195319996	195382287		Rushton, J. P.  et al. 2007	17251122				Asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018136	Canadian;Caucasian		CDC GDP info	259266	Hs.121028			Biol Lett    2007	No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism		605481		CDC	2007												
144613	N	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	9	9q22	ASPN	94258309	94284609			16542493				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Spanish;Japanese;CaucEuropean		CDC GDP info	54829	Hs.435655			Arthritis Res Ther    2006    8(3)    R55	Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility		608135		CDC	2006												
144614	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	9	9q22	ASPN	94258309	94284609		Torres, B.  et al. 2006	16707531				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Spanish;Caucasian	Spain	CDC GDP info	54829	Hs.435655			Ann Rheum Dis    2006	Asporin repeat polymorphism in rheumatoid arthritis		608135		CDC	2006	The results do not support a major role for asporin D repeat polymorphism in the susceptibility to rheumatoid arthritis.											
144615	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	9	9q22	ASPN	94258309	94284609		Jiang, Q.  et al. 2006	17024313				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Japanese;Chinese;Caucasian;European	China	CDC GDP info	54829	Hs.435655			J Hum Genet    2006	Replication of the association of the aspartic acid repeat polymorphism in the asporin gene with knee-osteoarthritis susceptibility in Han Chinese		608135		CDC	2006												
144617	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis	9	9q22	ASPN	94258309	94284609		Nakamura, T.  et al. 2007	17517696				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Japanese;Chinese;European;Asian		CDC GDP info	54829	Hs.435655			Hum Mol Genet    2007	Meta-analysis of association between the ASPN D-repeat and osteoarthritis		608135		CDC	2007												
144618	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	9	9q22	ASPN	94258309	94284609		Shi, D.  et al. 2007	17603749				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3			CDC GDP info	54829	Hs.435655			J Hum Genet    2007	Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population		608135		CDC	2007												
144619		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	16	16q22.3-q23.1	ATBF1	71374286	71650738		Xu, J.  et al. 2006	16637072				AT-binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006885			CDC GDP info	463	Hs.652666			Prostate    2006	Germline ATBF1 mutations and prostate cancer risk		104155		CDC	2006	Our study indicates that the germline 3381del allele may influence prostate cancer susceptibility.											
144620		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	22	22q13.1	ATF4	38246514	38248637		Kakiuchi, C.  et al. 2007	17346882				Activating transcription factor 4 (tax-responsive enhancer element B67)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001675			CDC GDP info	468	Hs.496487			Neurosci Lett    2007	Association analysis of ATF4 and ATF5, genes for interacting-proteins of DISC1, in bipolar disorder		604064		CDC	2007												
144621		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	19	19q13.3	ATF5	55124271	55129003		Kakiuchi, C.  et al. 2007	17346882				Activating transcription factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB073613			CDC GDP info	22809	Hs.9754			Neurosci Lett    2007	Association analysis of ATF4 and ATF5, genes for interacting-proteins of DISC1, in bipolar disorder		606398		CDC	2007												
144622	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q22-q23	ATF6	160002707	160199586		Thameem, F.  et al. 2006	16505252				Activating transcription factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX538263	Indian;Pima Indians		CDC GDP info	22926	Hs.492740			Diabetes    2006    55(3)    839-42	Association of Amino Acid Variants in the Activating Transcription Factor 6 Gene (ATF6) on 1q21-q23 With Type 2 Diabetes in Pima Indians		605537		CDC	2006												
144623		diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State	1	1q22-q23	ATF6	160002707	160199586		Chu, W. S.  et al. 2007	17327457				Activating transcription factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX538263	Chinese;Caucasian;Indian;Pima Indians		CDC GDP info	22926	Hs.492740			Diabetes    2007    56(3)    856-62	Activating Transcription Factor 6 (ATF6) Sequence Polymorphisms in Type 2 Diabetes and Pre-Diabetic Traits		605537		CDC	2007												
144625	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	2	2q37.1	ATG16L1	233824955	233869059		Hampe, J.  et al. 2006	17200669				ATG16 autophagy related 16-like 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030803			CDC GDP info	55054	Hs.529322			Nat Genet    2006	A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1		610767		CDC	2006												
144626	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	2	2q37.1	ATG16L1	233824955	233869059		Cummings, J. R.  et al. 2007	17455206				ATG16 autophagy related 16-like 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030803	German		CDC GDP info	55054	Hs.529322			Inflamm Bowel Dis    2007	Confirmation of the role of ATG16l1 as a Crohn's disease susceptibility gene		610767		CDC	2007	We confirmed the findings that ATG16L1 is a CD susceptibility gene and found no evidence of interaction with CARD15, IL23R, or IBD5.											
144627	Y	Crohn's disease ulcerative colitis,Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Ileitis|Crohn Disease|Genetic Predisposition to Disease	2	2q37.1	ATG16L1	233824955	233869059		Prescott, N. J.  et al. 2007	17484864				ATG16 autophagy related 16-like 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030803			CDC GDP info	55054	Hs.529322			Gastroenterology    2007    132(5)    1665-1671	A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5		610767		CDC	2007	The association of ATG16L1 with Crohn\s disease and possibly with ulcerative colitis supports a role for autophagy in the pathogenesis of inflammatory bowel disease.											
144629		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724			16447238				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Arthritis Rheum    2006    54(2)    607-12	Risk genotypes in folate-dependent enzymes and their association with methotrexate-related side effects in rheumatoid arthritis		601731		CDC	2006	These data suggest that a composite index of the cumulative risk genotypes in folate-dependent enzymes may be an effective means of profiling RA patients who develop side effects to MTX.											
144630	Y	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Wessels, J. A.  et al. 2006	16947783				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Arthritis Rheum    2006    54(9)    2830-2839	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis		601731		CDC	2006	Polymorphisms in the AMPD1, ATIC, and ITPA genes are associated with good clinical response to MTX treatment.		methotrexate									
144631		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Dervieux, T.  et al. 2006	17009228				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Arthritis Rheum    2006    54(10)    3095-3103	Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis		601731		CDC	2006	RBC MTXPG levels are a useful means by which to monitor therapy.											
144632	N	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Takatori, R.  et al. 2006	17181924				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Clin Exp Rheumatol    2006    24(5)    546-54	ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients		601731		CDC	2006	These results suggested that the genetic diagnosis of ABCB1 C3435T can be applied to determine MTX sensitivity for the treatment of RA patients.											
144634	N	folate, erythrocyte homocysteine thromboembolism, venous	METABOLIC	MET	Venous Thrombosis|Genetic Predisposition to Disease	2	2q35	ATIC	215885080	215922724		Gellekink, H.  et al. 2007	17439323				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Clin Chem Lab Med    2007    45(4)    471-6	Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous thrombosis		601731		CDC	2007												
144635		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	2	2q35	ATIC	215885080	215922724		Wessels, J. A.  et al. 2007	17530705				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			Arthritis Rheum    2007    56(6)    1765-1775	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis		601731		CDC	2007	This study established a model for predicting the efficacy of MTX in patients with RA.		methotrexate									
144636	Y	fibrosis, subcutaneous	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	11	11q22-q23	ATM	107598768	107745036		Andreassen, C. N.  et al. 2006	16338099				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Int J Radiat Oncol Biol Phys    2006    64(3)    776-83	ATM sequence variants and risk of radiation-induced subcutaneous fibrosis after postmastectomy radiotherapy		607585		CDC	2006	The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy.											
144638		breast cancer	CANCER	CAN	Breast Neoplasms|Ataxia Telangiectasia	11	11q22-q23	ATM	107598768	107745036		Koren, M.  et al. 2006	16622469				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3	Ashkenazi;Jewish	Israel	CDC GDP info	472	Hs.435561			Br J Cancer    2006	ATM haplotypes and breast cancer risk in Jewish high-risk women		607585		CDC	2006												
144639	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q22-q23	ATM	107598768	107745036		Damaraju, S.  et al. 2006	16638864				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		607585		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
144640	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q22-q23	ATM	107598768	107745036		Browning, R. E. = 4th et al. 2006	16765197				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Urology    2006    67(6)    1320-3	ATM polymorphism IVS62+60G>A is not associated with disease aggressiveness in prostate cancer		607585		CDC	2006	The results of our study indicate that this ATM polymorphism is not associated with the aggressiveness of prostate cancer in white men.											
144641		breast cancer	CANCER	CAN	Breast Neoplasms|Ataxia Telangiectasia|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Renwick, A.  et al. 2006	16832357				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Nat Genet    2006	ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles		607585		CDC	2006												
144642	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Tommiska, J.  et al. 2006	16914028				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			BMC Cancer    2006    6(1)    209	ATM variants and cancer risk in breast cancer patients from Southern Finland		607585		CDC	2006	Altogether, our results suggest very minor effect, if any, of ATM genetic variants on familial breast cancer in Southern Finland.											
144643		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	11	11q22-q23	ATM	107598768	107745036		Andreassen, C. N.  et al. 2006	16966185				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		607585		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
144644	N	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Einarsdottir, K.  et al. 2006	17132159				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Breast Cancer Res    2006    8(6)    R67	Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival		607585		CDC	2006	Our results indicate that common variants in the ATM, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined breast cancer.											
144646		lung cancer silicosis	CANCER	CAN	Lung Neoplasms|Silicosis	11	11q22-q23	ATM	107598768	107745036		Schneider, J.  et al. 2007	17203191				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Oncol Rep    2007    17(2)    477-82	ATM gene mutations in former uranium miners of SDAG Wismut		607585		CDC	2007												
144647	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Cox, A. et al  et al. 2007	17293864				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		607585		CDC	2007												
144648		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Johnson, N.  et al. 2007	17341484				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		607585		CDC	2007												
144649		breast cancer	CANCER	CAN		11	11q22-q23	ATM	107598768	107745036		Tapia, T.  et al. 2007	17351744				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3	European		CDC GDP info	472	Hs.435561			Breast Cancer Res Treat    2007	ATM allelic variants associated to hereditary breast cancer in 94 Chilean women		607585		CDC	2007												
144650		breast cancer	CANCER	CAN		11	11q22-q23	ATM	107598768	107745036		Johnson, N.  et al. 2007	17409195				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		607585		CDC	2007												
144652	Y	prostate cancer	CANCER	CAN		11	11q22-q23	ATM	107598768	107745036		Meyer, A.  et al. 2007	17502119				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Radiother Oncol    2007	ATM missense variant P1054R predisposes to prostate cancer		607585		CDC	2007	The ATM missense variant P1054R confers an about twofold increased risk for prostate cancer in our series.											
144653		DNA damage DNA repair lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Yang, H.  et al. 2007	17582598				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3	Caucasian		CDC GDP info	472	Hs.435561			Int J Cancer    2007	ATM sequence variants associate with susceptibility to non-small cell lung cancer		607585		CDC	2007			smoking (tobacco)									
144654		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	12	12p13.31	ATN1	6903886	6924076		Costa, M. D.  et al. 2006	16858508				atrophin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007026.1	Portuguese		CDC GDP info	1822	Hs.143766			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		125370		CDC	2006												
144656	N	thyrotoxic periodic paralysis	METABOLIC	MET	Hypokalemic Periodic Paralysis|Graves Disease	1	1p21	ATP1A1	116717358	116748919		Kung, A. W.  et al. 2006	16430714				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6			CDC GDP info	476	Hs.371889			Clin Endocrinol (Oxf)    2006    64(2)    158-61	Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes		182310		CDC	2006	No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected.											
144658	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p21	ATP1A1	116717358	116748919		Glorioso, N.  et al. 2007	17446437				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6			CDC GDP info	476	Hs.371889			Circ Res    2007	Association of ATP1A1 and Dear Single-Nucleotide Polymorphism Haplotypes With Essential Hypertension and Sex-Specific and Haplotype-Specific Effects		182310		CDC	2007												
144659	N	thyrotoxic periodic paralysis	METABOLIC	MET	Hypokalemic Periodic Paralysis|Graves Disease	1	1q21-q23	ATP1A2	158352171	158379998		Kung, A. W.  et al. 2006	16430714				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2			CDC GDP info	477	Hs.34114			Clin Endocrinol (Oxf)    2006    64(2)    158-61	Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes		182340		CDC	2006	No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected.											
144661	N	thyrotoxic periodic paralysis	METABOLIC	MET	Hypokalemic Periodic Paralysis|Graves Disease	1	1q24	ATP1B1	167342570	167368584		Kung, A. W.  et al. 2006	16430714				ATPase, Na+/K+ transporting, beta 1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001677			CDC GDP info	481	Hs.291196			Clin Endocrinol (Oxf)    2006    64(2)    158-61	Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes		182330		CDC	2006	No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected.											
144662	N	thyrotoxic periodic paralysis	METABOLIC	MET	Hypokalemic Periodic Paralysis|Graves Disease	17	17p13.1	ATP1B2	7494978	7501814		Kung, A. W.  et al. 2006	16430714				ATPase, Na+/K+ transporting, beta 2 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001678			CDC GDP info	482	Hs.694725			Clin Endocrinol (Oxf)    2006    64(2)    158-61	Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes		182331		CDC	2006	No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected.											
144663	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17p13.1	ATP1B2	7494978	7501814		Garcia-Closas, M.  et al. 2007	17411440				ATPase, Na+/K+ transporting, beta 2 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001678			CDC GDP info	482	Hs.694725			BMC Cancer    2007    7(1)    60	Ovarian cancer risk and common variation in the sex hormone-binding globulin gene		182331		CDC	2007	These data do not support a substantial association between common genetic variation in SHBG and ovarian cancer risk.											
144664	N	thyrotoxic periodic paralysis	METABOLIC	MET	Hypokalemic Periodic Paralysis|Graves Disease	X	Xq24	ATP1B4	119379994	119400252		Kung, A. W.  et al. 2006	16430714				ATPase, (Na+)/K+ transporting, beta 4 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158383			CDC GDP info	23439	Hs.662608			Clin Endocrinol (Oxf)    2006    64(2)    158-61	Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes				CDC	2006	No association between the polymorphisms of ATP1A1, ATP1A2, ATP1B1, ATP1B2 and ATP1B4 genes and TPP could be detected.											
144665		colorectal cancer lung cancer	CANCER	CAN	Colonic Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	12	12q23-q24.1	ATP2A2	109203814	109273280		Korosec, B.  et al. 2006	17116488				ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170665.2			CDC GDP info	488	Hs.506759			Cancer Genet Cytogenet    2006    171(2)    105-11	Alterations in the ATP2A2 gene in correlation with colon and lung cancer		108740		CDC	2006												
144666		hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12q23-q24.1	ATP2A2	109203814	109273280		Kiec-Wilk, B.  et al. 2007	17439322				ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170665.2			CDC GDP info	488	Hs.506759			Clin Chem Lab Med    2007    45(4)    467-70	A724A polymorphism of sarco(endo)plasmic reticulum Ca(2+)-ATPase 2 (SERCA2) in hypertensive patients		108740		CDC	2007	Our results suggest a protective role of the A724A (c.											
144668		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Park, S.  et al. 2007	17587212				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2	Korean		CDC GDP info	540	Hs.492280			Hum Mutat    2007	Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease		606882		CDC	2007												
144669		cognitive function	PSYCH	PSY	Spinocerebellar Ataxias|Machado-Joseph Disease|Myoclonic Epilepsies, Progressive|Diseases in Twins	6	6p23	ATXN1	16407321	16869700		Luciano, M.  et al. 2006	16967484				Ataxin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000332.2			CDC GDP info	6310	Hs.434961			Am J Med Genet B Neuropsychiatr Genet    2006	Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins		601556		CDC	2006												
144670		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q24.1	ATXN2	110374400	110521863		Lim, S. W.  et al. 2006	16687213				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2			CDC GDP info	6311	Hs.76253			Neurosci Lett    2006	Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease		601517		CDC	2006												
144671		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	12	12q24.1	ATXN2	110374400	110521863		Lin, C. H.  et al. 2007	17440947				Ataxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002973.2			CDC GDP info	6311	Hs.76253			Am J Med Genet B Neuropsychiatr Genet    2007	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism		601517		CDC	2007												
144672		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q24.3-q32.2	ATXN3	91598884	91642707		Lim, S. W.  et al. 2006	16687213				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDP info	4287	Hs.532632			Neurosci Lett    2006	Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease		607047		CDC	2006												
144673		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders	14	14q24.3-q32.2	ATXN3	91598884	91642707		Lin, C. H.  et al. 2007	17440947				Ataxin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004993.3			CDC GDP info	4287	Hs.532632			Am J Med Genet B Neuropsychiatr Genet    2007	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism		607047		CDC	2007												
144674		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758			16411056				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Cancer Causes Control    2006    17(1)    81-3	Polymorphisms of the AURKA (STK15/Aurora Kinase) Gene and Breast Cancer Risk (United States)		603072		CDC	2006	OR 1.											
144675		gastric cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758			16412566				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Cancer Lett    2006	Functional polymorphism 57Val>Ile of aurora kinase A associated with increased risk of gastric cancer progression		603072		CDC	2006												
144676	N	breast cancer	CANCER	CAN	Breast Neoplasms	20	20q13.2-q13.3	AURKA	54377851	54400758		Fletcher, O.  et al. 2006	16849685				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			J Natl Cancer Inst    2006    98(14)    1014-8	Inconsistent association between the STK15 F31I genetic polymorphism and breast cancer risk		603072		CDC	2006												
144677		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	20	20q13.2-q13.3	AURKA	54377851	54400758		Webb, E. L.  et al. 2006	17003782				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Br J Cancer    2006	Case-control, kin-cohort and meta-analyses provide no support for STK15 F31I as a low penetrance colorectal cancer allele		603072		CDC	2006												
144678		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Breast Cancer Association, = Consortium  et al. 2006	17018785				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		603072		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
144679		breast cancer	CANCER	CAN	Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Vidarsdottir, L.  et al. 2006	17113223				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Cancer Lett    2006	Breast cancer risk associated with AURKA 91T-->A polymorphism in relation to BRCA mutations		603072		CDC	2006												
144680		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	20	20q13.2-q13.3	AURKA	54377851	54400758		Hammerschmied, C. G.  et al. 2007	17143471				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Oncol Rep    2007    17(1)    3-7	Role of the STK15 Phe31Ile polymorphism in renal cell carcinoma		603072		CDC	2007	156 RCC patients and 158 patients without any malignancy were analysed.											
144682	Y	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	20	20q13.2-q13.3	AURKA	54377851	54400758		Chen, J.  et al. 2007	17505013				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1	Caucasian		CDC GDP info	6790	Hs.250822			Clin Cancer Res    2007    13(10)    3100-3104	Aurora-A and p16 Polymorphisms Contribute to an Earlier Age at Diagnosis of Pancreatic Cancer in Caucasians		603072		CDC	2007	Our findings suggest that the Aurora-A polymorphism contributes to a significantly earlier age at diagnosis of pancreatic cancer, and that Aurora-A and p16 C580T polymorphisms synergistically contribute to an earlier age at diagnosis of pancreatic cancer.											
144683		uterine cancer	CANCER	CAN	Uterine Neoplasms|Genetic Predisposition to Disease	20	20q13.2-q13.3	AURKA	54377851	54400758		Milam, M. R.  et al. 2007	17599395				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1			CDC GDP info	6790	Hs.250822			Gynecol Oncol    2007	STK15 F31I polymorphism is associated with increased uterine cancer risk		603072		CDC	2007	Our study demonstrates that STK15 F31I SNP is associated with an increased risk for uterine cancer. Confirmation of this pilot study is needed in a larger case-control population to evaluate this genetic variant with other known risk factors for uterine cancer.		smoking (tobacco)									
144684		autism	PSYCH	PSY	Autistic Disorder	7	7q36	AUTS1				Dutta, S.  et al. 2006	16941662				engrailed homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001427	Indian		CDC GDP info	2020	Hs.134989			Am J Med Genet B Neuropsychiatr Genet    2006	Reelin gene polymorphisms in the Indian population		209850		CDC	2006												
144685	Y	autism	PSYCH	PSY	Autistic Disorder	12	12q14-q15	AVPR1A	61826482	61832857			16520824				Arginine vasopressin receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000706.3			CDC GDP info	552	Hs.2131			Mol Psychiatry    2006	Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study		600821		CDC	2006												
144686		anorexia nervosa perfectionism	PSYCH	PSY	Anorexia Nervosa	12	12q14-q15	AVPR1A	61826482	61832857		Bachner-Melman, R.  et al. 2007	17440932				Arginine vasopressin receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000706.3			CDC GDP info	552	Hs.2131			Am J Med Genet B Neuropsychiatr Genet    2007	Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4)		600821		CDC	2007												
144687		urinary AQP2 excretion	METABOLIC	MET	Diabetes Insipidus, Nephrogenic|Dehydration	X	Xq28	AVPR2	152821178	152825834		Kotnik, P.  et al. 2007	17550212				Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000054.2			CDC GDP info	554	Hs.567240			J Pediatr Endocrinol Metab    2007    20(4)    483-9	Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus		300538		CDC	2007												
144688		hypodontia oligodontia	DEVELOPMENTAL	DEV	Dental Enamel Hypoplasia	17	17q23-q24	AXIN2	60955144	60988227		Mostowska, A.  et al. 2006	16432638				Axin 2 (conductin, axil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR933657			CDC GDP info	8313	Hs.156527			J Hum Genet    2006	Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis		604025		CDC	2006												
144689		colorectal cancer head and neck cancer lung cancer	CANCER	CAN	Colorectal Neoplasms|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	17	17q23-q24	AXIN2	60955144	60988227		Kanzaki, H.  et al. 2006	16820935				Axin 2 (conductin, axil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR933657			CDC GDP info	8313	Hs.156527			Int J Mol Med    2006    18(2)    279-84	Single nucleotide polymorphism of the AXIN2 gene is preferentially associated with human lung cancer risk in a Japanese population		604025		CDC	2006												
144691		infertility, male	REPRODUCTION	REP	Oligospermia|Chromosome Deletion	Y	Yq11.2	AZF1				Zhang, F.  et al. 2006	16674553				ubiquitin specific peptidase 9, Y-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_004654	Spanish;Chinese;European;French;German;Italian	Far East	CDC GDP info	8287	Hs.655309			Ann Hum Genet    2006    70(Pt 3)    304-13	A Frequent Partial AZFc Deletion does not Render an Increased Risk of Spermatogenic Impairment in East Asians				CDC	2006												
144693	P		NORMALVARIATION	NV		9	9q22.3	BAAT	103162889	103187108		Tougou, K.  et al. 2007	17495420				Bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001701	Japanese;Caucasian		CDC GDP info	570	Hs.284712			Drug Metab Pharmacokinet    2007    22(2)    125-8	Genetic Polymorphism of Bile acid CoA		602938		CDC	2007												
144694	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.11	BACH1	29593090	29656086		Vahteristo, P.  et al. 2006	16430786				BTB and CNC homology 1, basic leucine zipper transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206866.1	Finnish		CDC GDP info	571	Hs.154276			BMC Cancer    2006    6(1)    19	BACH1 Ser919Pro variant and breast cancer risk		602751		CDC	2006	Our results suggest that the BACH1 Ser919 is not a breast cancer predisposition allele in the Finnish study population.											
144695		breast cancer	CANCER	CAN	Breast Neoplasms|Fanconi Anemia|Genetic Predisposition to Disease	21	21q22.11	BACH1	29593090	29656086		Frank, B.  et al. 2007	17504528				BTB and CNC homology 1, basic leucine zipper transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206866.1	German		CDC GDP info	571	Hs.154276			BMC Cancer    2007    7(1)    83	BRIP1 (BACH1) variants and familial breast cancer risk		602751		CDC	2007	We found no effect of the putatively functional BRIP1 variants -64G>A and Pro919Ser on the risk of familial BC.											
144696		lymphoproliferative disorders	CANCER	CAN	Arthritis, Rheumatoid|Lymphoproliferative Disorders	6	6p21.3	BAK1	33648300	33656048		Xu, J. X.  et al. 2007	16988840				BCL2-antagonist/killer 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627020			CDC GDP info	578	Hs.485139			J Cancer Res Clin Oncol    2007    133(2)    125-33	Analysis of p53 and Bak gene mutations in lymphoproliferative disorders developing in rheumatoid arthritis		600516		CDC	2007	MTX-LPD and non-MTX-LPD show similar findings in clinical characteristics, histology, EBV positive rate, and frequency of Bak gene mutations. Whereas the non-MTX-LPD is distinct from the MTX-LPD in its significantly higher p53 mutation frequency.											
144697		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Onay, V. U.  et al. 2006	16672066				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1			CDC GDP info	580	Hs.591642			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		601593		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
144698	Y	breast cancer	CANCER	CAN	Carcinoma, Medullary|Carcinoma, Intraductal, Noninfiltrating|Carcinoma, Lobular|Carcinoma in Situ|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplastic Syndromes, Hereditary|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Stacey, S. N.  et al. 2006	16768547	Cys557Ser			BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1	Icelandic	Iceland	CDC GDP info	580	Hs.591642			PLoS Med    2006    3(7)    e217	The BARD1 Cys557Ser Variant and Breast Cancer Risk in Iceland		601593		CDC	2006	Our findings suggest that BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation.											
144699	Y	breast cancer breast cancer, male colorectal cancer ovarian cancer prostate cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Colorectal Neoplasms|Ovarian Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Karppinen, S. M.  et al. 2006	16825437				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1	Norwegian		CDC GDP info	580	Hs.591642			J Med Genet    2006	Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 cancer cases		601593		CDC	2006	These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women.											
144700	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q34-q35	BARD1	215301521	215382611		Huo, X.  et al. 2006	17028982				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1			CDC GDP info	580	Hs.591642			Breast Cancer Res Treat    2006	Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility		601593		CDC	2006												
144702	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.3	BAT1	31605974	31622606		Koch, W.  et al. 2007	17517687				HLA-B associated transcript 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130463.2	Japanese;European		CDC GDP info	7919	Hs.254042			Hum Mol Genet    2007	Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans		142560		CDC	2007												
144703	N	pemphigus	IMMUNE	IMM	Pemphigus	19	19q13.3-q13.4	BAX	54149928	54156867		Kohler, K. F.  et al. 2006	16611260				BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2	Brazilian		CDC GDP info	581	Hs.631546			Int J Immunogenet    2006    33(2)    141-4	No evidence for association of the TP53 12139 and the BAX-248 polymorphisms with endemic pemphigus foliaceus (fogo selvagem)		600040		CDC	2006	although the TP53 and BAX alleles analysed differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere with the development of the disease.											
144704	Y	osteomyelitis	IMMUNE	IMM	Osteomyelitis	19	19q13.3-q13.4	BAX	54149928	54156867		Ocana, M. G.  et al. 2007	17438390	BAX G-->A  -248		promoter	BCL2-associated X protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138761.2			CDC GDP info	581	Hs.631546			Genet Med    2007    9(4)    249-255	Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis		600040		CDC	2007	Substitution of a nucleotide G-->A at position -248 in the bax gene was more frequent in patients with osteomyelitis and was associated with a longer lifespan of their peripheral blood neutrophils and lower Bax protein expression. These findings may play a role in the pathogenesis of osteomyelitis.											
144706	Y	metabolic syndrome obesity	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity	15	15q22.3-q23	BBS4	70765587	70817869		Benzinou, M.  et al. 2006	17003356				Bardet-Biedl syndrome 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY457143	Caucasian;French		CDC GDP info	585	Hs.208681			Diabetes    2006    55(10)    2876-82	Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians		600374		CDC	2006	our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.											
144707	P		NORMALVARIATION	NV		3	3q26.1-q26.2	BCHE	166973386	167037944		Manoharan, I.  et al. 2006	16788378				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	European;Indian		CDC GDP info	590	Hs.420483			Pharmacogenet Genomics    2006    16(7)    461-8	Naturally occurring mutation Leu307Pro of human butyrylcholinesterase in the Vysya community of India		177400		CDC	2006	This is the first report of a molecularly defined BChE mutation in the Indian population.											
144709		Alzheimer's disease drug hypersensitivity	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Blesa, R.  et al. 2006	17047484				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDP info	590	Hs.420483			Pharmacogenet Genomics    2006    16(11)    771-774	Effect of butyrylcholinesterase genotype on the response to rivastigmine or donepezil in younger patients with Alzheimer's disease		177400		CDC	2006			donepezil rivastigmine									
144710		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Corder, E. H.  et al. 2006	17116317				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDP info	590	Hs.420483			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		177400		CDC	2006												
144711		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Oguri, M.  et al. 2007	17275003				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDP info	590	Hs.420483			Atherosclerosis    2007	Genetic risk for restenosis after coronary stenting		177400		CDC	2007	Determination of the genotypes for BCHE, GPX1, and ROS1 may prove informative for assessment of the genetic risk for in-stent restenosis.											
144712		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Piccardi, M.  et al. 2007	17503475				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	Sardinian		CDC GDP info	590	Hs.420483			Am J Med Genet B Neuropsychiatr Genet    2007	Alzheimer's disease		177400		CDC	2007												
144713	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	18	18q21.33	BCL2	58941558	59137637		Damaraju, S.  et al. 2006	16638864				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		151430		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
144715	Y	leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Chromosome Aberrations|Disease Progression	18	18q21.33	BCL2	58941558	59137637		Nuckel, H.  et al. 2006	16960146			promoter	B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Blood    2006	Association of a novel regulatory polymorphism (-938C>A) in the BCL2 gene promoter with disease progression and survival in chronic lymphocytic leukemia		151430		CDC	2006												
144717		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Ester, A. R.  et al. 2007	17534194				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		151430		CDC	2007												
144718		laryngeal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Laryngeal Neoplasms	18	18q21.33	BCL2	58941558	59137637		Yoo, N. J.  et al. 2007	17557568				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Tumori    2007    93(2)    195-7	Mutational analysis of the BH3 domains of proapoptotic Bcl-2 family genes Bad, Bmf and Bcl-G in laryngeal squamous cell carcinomas		151430		CDC	2007	The data presented here indicate that BH3 domain mutation of the proapoptotic genes Bad, Bmf and Bcl-G is rare in laryngeal squamous cell carcinoma and may not contribute to the apoptosis-resistance mechanisms of laryngeal squamous cell carcinoma.											
144719	N	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Jain, M.  et al. 2007	17561354				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Cancer Detect Prev    2007	Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer		151430		CDC	2007												
144720		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	15	15q24.3	BCL2A1	78040289	78050698		Gray, A.  et al. 2006	17121585				BCL2-related protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF690887	Caucasian		CDC GDP info	597	Hs.227817			Pediatr Allergy Immunol    2006    17(8)    578-82	Polymorphisms of the Bcl-2 family member bfl-1 in children with atopic dermatitis		601056		CDC	2006												
144721	Y	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	19	19q13.1-q13.2	BCL3	49943870	49955140		Morkuniene, A.  et al. 2007	17272867				B-cell CLL/lymphoma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005178.2			CDC GDP info	602	Hs.31210			J Appl Genet    2007    48(1)    87-9	Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania		109560		CDC	2007												
144723	Y	endurance performance	NORMALVARIATION	NV		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Saunders, C. J.  et al. 2006	16461337				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Caucasian;South African		CDC GDP info	624	Hs.525572			Hum Mol Genet    2006	The Bradykinin {beta}2 receptor (BDKRB2) and endothelial nitric oxide synthase 3(NOS3) genes and endurance performance during Ironman Triathlons		113503		CDC	2006	both the NOS3 and BDKRB2 genes are associated with the actual performance during the Ironman Triathlons.											
144724		body mass muscle testing	METABOLIC	MET	Pulmonary Disease, Chronic Obstructive	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Hopkinson, N. S.  et al. 2006	16600946				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDP info	624	Hs.525572			Am J Clin Nutr    2006    83(4)    912-7	+9/+9 Homozygosity of the bradykinin receptor gene polymorphism is associated with reduced fat-free mass in chronic obstructive pulmonary disease		113503		CDC	2006	The genotype associated with reduced BK(2)R expression is associated with$$$ reduced fat-free mass and quadriceps strength in COPD. However, alterations in the activity at the BK(2)R do not seem to account for the previously identified association of quadriceps strength with ACE genotype.											
144725	Y	weight loss	METABOLIC	MET	Weight Loss	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Saunders, C. J.  et al. 2006	16950802				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	Caucasian;South African		CDC GDP info	624	Hs.525572			Hum Mol Genet    2006	Dipsogenic genes associated with weight changes during ironman triathlons		113503		CDC	2006	the functional SS genotype of the serotonin transporter-linked polymorphic region (5-HTTLPR) within the 5-HTT gene and the functional +9/+9 genotype of the BDKBR2 gene were associated with larger weight losses during the Ironman Triathlons. These findings suggest the involvement of the serotonergic pathways in the control of thirst and drinking behaviour and provide further evidence for the dipsogenic effect of circulating bradykinin.											
144726		PAI-1 levels tissue plasminogen activator	METABOLIC	MET		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Asselbergs, F. W.  et al. 2007	17207964				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDP info	624	Hs.525572			Genomics    2007	Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels		113503		CDC	2007												
144727		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	14	14q32.1-q32.2	BDKRB2	95740949	95780538		Tazon-Vega, B.  et al. 2007	17303584				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2	European		CDC GDP info	624	Hs.525572			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		113503		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
144729		plasminogen activator inhibitor-1 tissue-type plasminogen activator	METABOLIC	MET		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Asselbergs, F. W.  et al. 2007	17593394				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDP info	624	Hs.525572			Hum Genet    2007	The effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context		113503		CDC	2007	the genetic architecture of t-PA and PAI-1 is dependent on the environmental context such as body size and alcohol use. The present study emphasizes the importance of including environmental factors in genetic analyses to fully comprehend the genetic architecture of a specific trait.		alcohol body mass									
144731	Y	hippocampal volume	NEUROLOGICAL	NEUR		11	11p13	BDNF	27633017	27699872		Bueller, J. A.  et al. 2006	16442082	met-BDNF			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biol Psychiatry    2006	BDNF Val(66)Met Allele Is Associated with Reduced Hippocampal Volume in Healthy Subjects		113505		CDC	2006	In spite of a relatively small sample size, the presence of the met-BDNF allele was found associated with a reduced volume of the hippocampal formation in healthy volunteers and may represent a vulnerability factor for the development of disease processes associated with the dysfunction of this brain region.											
144732	Y	reasoning skills	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Harris, S. E.  et al. 2006	16446742	BDNF  Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Scottish		CDC GDP info	627	Hs.502182			Mol Psychiatry    2006	The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skills		113505		CDC	2006												
144733	Y	depression	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Kaufman, J.  et al. 2006	16458264	BDNF val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biol Psychiatry    2006	Brain-Derived Neurotrophic Factor-5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children		113505		CDC	2006	To the best of our knowledge, this is the first investigation to demonstrate a gene-by-gene interaction conveying vulnerability to depression. The current data also show a protective effect of social supports in ameliorating genetic and environmental risk for psychopathology.			BDNF	BDNF val66met	SLC6A4	SLC6A4   5-HTTLPR					
144734		cognitive performance	PSYCH	PSY	Cognition Disorders|Bipolar Disorder|Schizophrenia	11	11p13	BDNF	27633017	27699872		Rybakowski, J. K.  et al. 2006	16472361				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychiatry Clin Neurosci    2006    60(1)    70-6	Prefrontal cognition in schizophrenia and bipolar illness in relation to Val66Met polymorphism of the brain-derived neurotrophic factor gene		113505		CDC	2006												
144735	N	mood status	PSYCH	PSY	Mood Disorders	11	11p13	BDNF	27633017	27699872		Surtees, P. G.  et al. 2007	16497333	BDNF Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	European		CDC GDP info	627	Hs.502182			J Psychiatr Res    2007	No association between the BDNF Val66Met polymorphism and mood status in a non-clinical community sample of 7389 older adults		113505		CDC	2006												
144737	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Numata, S.  et al. 2006	16533563	BDNF  Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neurosci Lett    2006    401(1-2)    1-5	Brain-derived neurotrophic factor (BDNF) Val66Met polymorphism in schizophrenia is associated with age at onset and symptoms		113505		CDC	2006												
144738		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	11	11p13	BDNF	27633017	27699872			16538178				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychiatr Genet    2006    16(2)    49-50	Lithium response and Val66Met polymorphism of the brain-derived neurotrophic factor gene in Japanese patients with bipolar disorder		113505		CDC	2006			lithium									
144739	N	Alzheimer's disease Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Saarela, M. S.  et al. 2006	16565926				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Finnish		CDC GDP info	627	Hs.502182			Folia Neuropathol    2006    44(1)    12-6	No association between the brain-derived neurotrophic factor 196G>A or 270C>T polymorphisms and Alzheimer's or Parkinson's disease		113505		CDC	2006	it seems that the BDNF gene does not contribute significantly to the risk of AD or PD in Finnish patients.											
144740	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Okada, T.  et al. 2006	16568151				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Mol Psychiatry    2006	A complex polymorphic region in the brain-derived neurotrophic factor (BDNF) gene confers susceptibility to bipolar disorder and affects transcriptional activity		113505		CDC	2006												
144742	Y	cognitive function	PSYCH	PSY	Lupus Erythematosus, Systemic|Lupus Vasculitis, Central Nervous System|Genetic Predisposition to Disease|Cognition Disorders	11	11p13	BDNF	27633017	27699872		Oroszi, G.  et al. 2006	16606648				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Ann Rheum Dis    2006	The Met66 allele of the functional Val66Met polymorphism in the brain-derived neurotrophic factor gene confers protection against neurocognitive dysfunction in systemic lupus erythematosus (SLE)		113505		CDC	2006	The BDNF Met66 allele was associated with better cognitive functioning in the psychomotor and motor domains, even after controlling for differences in ethnicity, sex, depression status and prednisone treatment.											
144744		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Chuu, J. Y.  et al. 2006	16627933				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Alzheimers Dis    2006    9(1)    43-9	The Brain-Derived Neurotrophic Factor Val66Met Polymorphism and Rate of Decline in Alzheimer's disease		113505		CDC	2006	were similar when we excluded patients taking an acetylcholinesterase inhibitor, those placed in a nursing home during the study, or those with a neuropathological diagnosis that included AD plus an entity other than AD.											
144745	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Watanabe, Y.  et al. 2006	16631352				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Schizophr Res    2006    84(1)    29-35	No association between the brain-derived neurotrophic factor gene and schizophrenia in a Japanese population		113505		CDC	2006												
144746	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	11	11p13	BDNF	27633017	27699872		Lane, H. Y.  et al. 2006	16633140				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		113505		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
144748	Y	brain activity	NEUROLOGICAL	NEUR		11	11p13	BDNF	27633017	27699872		Kleim, J. A.  et al. 2006	16680163	BDNF val66met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Nat Neurosci    2006	BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex		113505		CDC	2006												
144749		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Forero, D. A.  et al. 2006	16698101				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neurosci Res    2006	Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia		113505		CDC	2006												
144750	Y	body mass	METABOLIC	MET		11	11p13	BDNF	27633017	27699872		Gunstad, J.  et al. 2006	16707914	BDNF Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neuropsychobiology    2006    53(3)    153-156	BDNF Val66Met Polymorphism Is Associated with Body Mass Index in Healthy Adults		113505		CDC	2006												
144751		schizoaffective disorder schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Agartz, I.  et al. 2006	16741916				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2006	BDNF gene variants and brain morphology in schizophrenia		113505		CDC	2006												
144752		bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Kremeyer, B.  et al. 2006	16741941				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	South American		CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2006	Transmission distortion of BDNF variants to bipolar disorder type I patients from a south american population isolate(,)		113505		CDC	2006												
144753		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Michelon, L.  et al. 2006	16787706				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neurosci Lett    2006	Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder		113505		CDC	2006			lithium									
144755	Y	cognitive function schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	11	11p13	BDNF	27633017	27699872		Ho, B. C.  et al. 2006	16818862				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Arch Gen Psychiatry    2006    63(7)    731-740	Cognitive and Magnetic Resonance Imaging Brain Morphometric Correlates of Brain-Derived Neurotrophic Factor Val66Met Gene Polymorphism in Patients With Schizophrenia and Healthy Volunteers		113505		CDC	2006	We replicated the association between the BDNF(Met) variant and poor medial temporal lobe-related memory performance. The consonance of our cognitive and brain morphology findings further suggests that the BDNF(Met) variant may have a specific role in conferring visuospatial dysfunction in schizophrenia.											
144756		amphetamine response	CHEMDEPENDENCY	CHEM		11	11p13	BDNF	27633017	27699872		Flanagin, B. A.  et al. 2006	16823800				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2006	An association study of the brain-derived neurotrophic factor Val66Met polymorphism and amphetamine response		113505		CDC	2006												
144757	Y	schizophrenia	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Tan, Y. L.  et al. 2006	16846718				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Schizophr Res    2006	Association between the BDNF C270T polymorphism and negative symptoms of schizophrenia		113505		CDC	2006												
144758		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	11	11p13	BDNF	27633017	27699872		Metzger, S.  et al. 2006	16847693				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	European		CDC GDP info	627	Hs.502182			Hum Genet    2006	Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease		113505		CDC	2006												
144759	N	memory impairment	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Hansell, N. K.  et al. 2006	16848784				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Genes Brain Behav    2006	Effect of the BDNF V166M polymorphism on working memory in healthy adolescents		113505		CDC	2006	indicated that the BDNF V166M polymorphism is not associated with variation in working memory in healthy adolescents.											
144761		depression depressive disorder, major	PSYCH	PSY	Bipolar Disorder|Depressive Disorder|Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Schule, C.  et al. 2006	16890377				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychoneuroendocrinology    2006    31(8)    1019-25	Brain-derived neurotrophic factor Val66Met polymorphism and dexamethasone/CRH test results in depressed patients		113505		CDC	2006												
144762		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872		Numata, S.  et al. 2006	16897602				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Neural Transm    2006	Interaction between catechol-O-methyltransferase (COMT) Val108/158Met and brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in age at onset and clinical symptoms in schizophrenia		113505		CDC	2006												
144764	Y	bulimia eating disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bulimia Nervosa	11	11p13	BDNF	27633017	27699872		Monteleone, P.  et al. 2006	16901635				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Caucasian		CDC GDP info	627	Hs.502182			Neurosci Lett    2006	The 196G/A (val66met) polymorphism of the BDNF gene is significantly associated with binge eating behavior in women with bulimia nervosa or binge eating disorder		113505		CDC	2006												
144765	N	Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Di Maria, E.  et al. 2006	16905325			coding sequence	brain-derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Italian patients with Huntington's disease		CDC GDP info	627	Hs.502182	Huntington's disease age at onset		Neurobiol Dis    2006	No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease		113505		CDC	2006	No evidence of association between the BDNF Val66Met genotype and variation in age-at-onset.											
144767	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Muller, D. J.  et al. 2006	17012654				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Br J Psychiatry    2006    189    317-23	Brain-derived neurotrophic factor (BDNF) gene and rapid-cycling bipolar disorder		113505		CDC	2006	Within bipolar disorder, variation in the BDNF gene appears to predict risk for developing rapid cycling according to DSM-IV. Incorporating this clinical sub-phenotyping into other studies of the BDNF gene may help to resolve some of the inconsistencies reported thus far concerning BDNF and bipolar disorder.											
144768	N	electroconvulsive therapy response	PSYCH	PSY	Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Kaija, H.  et al. 2006	17036259				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Eur Arch Psychiatry Clin Neurosci    2006	Brain-derived neurotrophic factor (BDNF) polymorphisms G196A and C270T are not associated with response to electroconvulsive therapy in major depressive disorder		113505		CDC	2006												
144769		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p13	BDNF	27633017	27699872		Xu, X.  et al. 2006	17044097				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2006	Family-based association study between brain-derived neurotrophic factor gene polymorphisms and attention deficit hyperactivity disorder in UK and Taiwanese samples		113505		CDC	2006												
144770		depression	PHARMACOGENOMIC	PHARM		11	11p13	BDNF	27633017	27699872		Yoshida, K.  et al. 2006	17092970				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Psychopharmacol    2006	The G196A polymorphism of the brain-derived neurotrophic factor gene and the antidepressant effect of milnacipran and fluvoxamine		113505		CDC	2006			fluvoxamine milnacipran									
144771		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	11	11p13	BDNF	27633017	27699872		Mai, M.  et al. 2006	17096834				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	German		CDC GDP info	627	Hs.502182			BMC Med Genet    2006    7(1)    79	No association between polymorphisms in the brain-derived neurotrophic factor gene and age at onset in Huntington disease		113505		CDC	2006	neither sequence variations in nor near the gene contribute significantly to the variance of AO.											
144772	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Lang, U. E.  et al. 2006	17186223				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychopharmacology (Berl)    2006	Association of the met66 allele of brain-derived neurotrophic factor (BDNF) with smoking		113505		CDC	2006	Our results suggest that humans who carry the Met allele of the BDNF missense polymorphism might be more vulnerable to initiate and also maintain smoking.											
144774		anorexia nervosa	PSYCH	PSY	Body Weight|Anorexia Nervosa	11	11p13	BDNF	27633017	27699872		Dardennes, R. M.  et al. 2006	17197106				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	French		CDC GDP info	627	Hs.502182			Psychoneuroendocrinology    2006	Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa		113505		CDC	2006												
144776	Y	eating disorders mood disorders schizophrenia substance abuse	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders|Eating Disorders|Schizophrenia|Substance-Related Disorders	11	11p13	BDNF	27633017	27699872		Gratacos, M.  et al. 2007	17217930	BDNF  Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biol Psychiatry    2007	Brain-Derived Neurotrophic Factor Val66Met and Psychiatric Disorders		113505		CDC	2007	The study confirms the association of Val66Met to substance-related disorders, eating disorders, and schizophrenia. It remains to be determined if other variants in tight linkage disequilibrium with Val66Met could configure an extended functional haplotype that would explain observed discrepancies in risk estimations across studies.											
144777	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p13	BDNF	27633017	27699872		Schimmelmann, B. G.  et al. 2007	17219016				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	German		CDC GDP info	627	Hs.502182			J Neural Transm    2007	No evidence for preferential transmission of common valine allele of the Val66Met polymorphism of the brain-derived neurotrophic factor gene (BDNF) in ADHD		113505		CDC	2007												
144778	Y	depression stroke	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Kim, J. M.  et al. 2007	17222482				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neurobiol Aging    2007	BDNF genotype potentially modifying the association between incident stroke and depression		113505		CDC	2007	The BDNF val66met polymorphism may modify the association between stroke and depression.											
144780	N	obsessive compulsive disorder	PSYCH	PSY	Tic Disorders|Tourette Syndrome|Obsessive-Compulsive Disorder	11	11p13	BDNF	27633017	27699872		Dickel, D. E.  et al. 2007	17241828				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biol Psychiatry    2007    61(3)    322-9	Association Studies of Serotonin System Candidate Genes in Early-onset Obsessive-Compulsive Disorder		113505		CDC	2007	Low power across individual association studies in OCD may lead to a false acceptance of the null hypothesis.											
144781	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Naoe, Y.  et al. 2007	17267117	BDNF Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Scottish;Asian		CDC GDP info	627	Hs.502182			Neurosci Lett    2007	No association between the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and schizophrenia in Asian populations		113505		CDC	2007												
144783	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Xu, M. Q.  et al. 2007	17289348	BDNF C-270T and Val66Met			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese;Caucasian;Asian		CDC GDP info	627	Hs.502182			Schizophr Res    2007	Brain-derived neurotrophic factor gene C-270T and Val66Met functional polymorphisms and risk of schizophrenia		113505		CDC	2007	Our population-based study and meta-analysis demonstrate that the BDNF C-270T and Val66Met polymorphisms do not play major roles in the susceptibility to schizophrenia in either Caucasian or Asian populations. But we can not rule out the possibility that other polymorphisms with the BDNF gene are involved in the pathophysiology of schizophrenia.											
144784		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Huang, R.  et al. 2007	17293537				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Med Genet    2007    44(2)    e66	Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's disease		113505		CDC	2007	The combination of the diplotypes for three SNPs exhibited significant p values for Alzheimer\s APOE 4 non-carriers. The two SNPs (rs11030104 and rs2049045) are found between exons VI and VII, while the Val66Met polymorphism is located in the coding exon VIII; the total distance for the three SNPs is 14308 bp. Whether the SNPs are involved with alternative s											
144785		autism	PSYCH	PSY	Autistic Disorder	11	11p13	BDNF	27633017	27699872		Nishimura, K.  et al. 2007	17349978				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biochem Biophys Res Commun    2007	Genetic analyses of the brain-derived neurotrophic factor (BDNF) gene in autism		113505		CDC	2007												
144786		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	11	11p13	BDNF	27633017	27699872		Hall, H.  et al. 2007	17366345				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		113505		CDC	2007												
144787		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Rybakowski, J. K.  et al. 2007	17373693				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2007	Response to lithium prophylaxis		113505		CDC	2007			lithium									
144788	N	obsessive compulsive disorder	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Wendland, J. R.  et al. 2007	17375136				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neuropsychopharmacology    2007	A Large Case-Control Study of Common Functional SLC6A4 and BDNF Variants in Obsessive-Compulsive Disorder		113505		CDC	2007	despite their attractiveness as candidate genes in OCD, our data provide no support for association in this large OCD patient sample and point toward the need to examine other genes as candidates for risk determinants in OCD.											
144789	Y	personality traits	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Hunnerkopf, R.  et al. 2007	17392738				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neuropsychopharmacology    2007	Interaction between BDNF Val66Met and Dopamine Transporter Gene Variation Influences Anxiety-Related Traits		113505		CDC	2007												
144790		depression	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Anttila, S.  et al. 2007	17401528				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Neural Transm    2007	Interaction between 5-HT1A and BDNF genotypes increases the risk of treatment-resistant depression		113505		CDC	2007												
144791	Y	depressive disorder, major hippocampal volume	PSYCH	PSY	Atrophy|Genetic Predisposition to Disease|Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Frodl, T.  et al. 2007	17404118	Met-BDNF			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Arch Gen Psychiatry    2007    64(4)    410-416	Association of the Brain-Derived Neurotrophic Factor Val66Met Polymorphism With Reduced Hippocampal Volumes in Major Depression		113505		CDC	2007	These genotype-related alterations suggest that Met-BDNF allele carriers might be at risk to develop smaller hippocampal volumes and may be susceptible to major depression. This study supports findings from animal studies that the hippocampus is involved in brain development and plasticity.											
144792		bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11p13	BDNF	27633017	27699872		Kanazawa, T.  et al. 2007	17417060				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychiatr Genet    2007    17(3)    165-170	Meta-analysis reveals no association of the Val66Met polymorphism of brain-derived neurotrophic factor with either schizophrenia or bipolar disorder		113505		CDC	2007	Although there are some limitations on the study, our results indicate there is a lack of association between the Val66Met polymorphism and either of the two psychoses.											
144795	Y	anorexia nervosa	PSYCH	PSY	Disease Susceptibility|Anorexia Nervosa	11	11p13	BDNF	27633017	27699872		Rybakowski, F.  et al. 2007	17435670	BDNF -270 C/T			Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neuro Endocrinol Lett    2007    28(2)	Brain Derived Neurotrophic Factor Gene Val66Met and -270C/T polymorphisms and personality traits predisposing to anorexia nervosa		113505		CDC	2007	These results may suggest, that BDNF -270 C/T polymorphism may influence the personality trait associated with higher risk of AN.											
144796	N	depression	PHARMACOGENOMIC	PHARM		11	11p13	BDNF	27633017	27699872		Wilkie, M. J.  et al. 2007	17460549			splice	Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Pharmacogenet Genomics    2007    17(3)    207-215	A splice site polymorphism in the G-protein beta subunit influences antidepressant efficacy in depression		113505		CDC	2007	These results suggest that inheritance of the GNB3C825T allele may significantly influence antidepressant response and emphasises the potential importance of polymorphisms in genes in signalling cascades activated by commonly prescribed antidepressants.		antidepressants									
144797		depression	PSYCH	PSY	Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Kim, J. M.  et al. 2007	17482146				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Korean		CDC GDP info	627	Hs.502182			Biol Psychiatry    2007	Interactions Between Life Stressors and Susceptibility Genes (5-HTTLPR and BDNF) on Depression in Korean Elders		113505		CDC	2007	These findings suggest that environmental risk of depression is modified by at least two genes and that gene-environment interactions are found even into old age.		stress									
144798	Y	mood disorder	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Gratacos, M.  et al. 2007	17505499				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Pharmacogenomics J    2007	A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders		113505		CDC	2007			antidepressants									
144799	Y	depression	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Wichers, M.  et al. 2007	17579366				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2007	The BDNF Val(66)Met x 5-HTTLPR x child adversity interaction and depressive symptoms		113505		CDC	2007			childhood adversity									
144800		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Szczepankiewicz, A.  et al. 2007	17584309				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Pediatr Allergy Immunol    2007    18(4)    293-297	Association analysis of brain-derived neurotrophic factor gene polymorphisms in asthmatic children		113505		CDC	2007												
144801	N	schizotypal traits	PSYCH	PSY	Genetic Predisposition to Disease|Schizotypal Personality Disorder|Schizophrenia	11	11p13	BDNF	27633017	27699872		Ma, X.  et al. 2007	17604122				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Psychiatry Res    2007	A quantitative association study between schizotypal traits and COMT, PRODH and BDNF genes in a healthy Chinese population		113505		CDC	2007	SNP Val158Met (rs4680) in the COMT gene may be associated with some schizotypal traits in male subjects, but our results are not conclusive.											
144802	Y	bone density osteocalcin	METABOLIC	MET	Osteoporosis, Postmenopausal	1	1q25-q31	BGLAP	154478628	154479736		Kim, J. G.  et al. 2006	16735944				Bone gamma-carboxyglutamate (gla) protein (osteocalcin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL566130	Korean		CDC GDP info	632	Hs.512679			Menopause    2006	Relationship of osteocalcin and matrix Gla protein gene polymorphisms to serum osteocalcin levels and bone mineral density in postmenopausal Korean women		112260		CDC	2006	The osteocalcin gene Hind III polymorphism is a genetic factor that is associated with$$$ BMD of the lumbar spine in Korean women, and Gla gene polymorphisms are associated with higher osteocalcin levels.											
144804		choline deficiency	METABOLIC	MET	Choline Deficiency	5	5q13.1-q15	BHMT	78443438	78463864		da Costa, K. A.  et al. 2006	16816108				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDP info	635	Hs.80756			FASEB J    2006    20(9)    1336-44	Common genetic polymorphisms affect the human requirement for the nutrient choline		602888		CDC	2006												
144805	Y	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	5	5q13.1-q15	BHMT	78443438	78463864		Boyles, A. L.  et al. 2006	17035141				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1	Caucasian		CDC GDP info	635	Hs.80756			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes	rs3733890	602888		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
144806		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	5	5q13.1-q15	BHMT	78443438	78463864		Lim, U.  et al. 2006	17119116				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDP info	635	Hs.80756			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		602888		CDC	2006			Vitamin B6									
144807	Y	placental abruption	REPRODUCTION	REP	Abruptio Placentae	5	5q13.1-q15	BHMT	78443438	78463864		Ananth, C. V.  et al. 2007	17376725	BHMT (742G-->A)			Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDP info	635	Hs.80756			Mol Genet Metab    2007	Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes		602888		CDC	2007	In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption.											
144808		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	5	5q13.1-q15	BHMT	78443438	78463864		Fredriksen, A.  et al. 2007	17436311				Betaine-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001713.1			CDC GDP info	635	Hs.80756			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		602888		CDC	2007												
144810	N	cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	17		BIRC5	73721871	73733311		Borbely, A. A.  et al. 2007	16714396			promoter	Baculoviral IAP repeat-containing 5 (survivin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012270.1			CDC GDP info	332	Hs.514527			J Clin Pathol    2007    60(3)    303-6	Survivin promoter polymorphism and cervical carcinogenesis				CDC	2007	The survivin promoter polymorphism at position 31 may not represent an increased risk for the development of cervical cancer, at least in the population studied here.											
144811	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	X	Xp11.2	BMP15	50670523	50676347		Di Pasquale, E.  et al. 2006	16464940				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264	Caucasian		CDC GDP info	9210	Hs.532692			J Clin Endocrinol Metab    2006	IDENTIFICATION OF NEW VARIANTS OF HUMAN BMP15 GENE IN A LARGE COHORT OF WOMEN WITH PREMATURE OVARIAN FAILURE		300247		CDC	2006	We describe the significant association of heterozygous BMP15 gene variants with the POF phenotype in humans (seven of 166 patients: 4.											
144813	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Amenorrhea	X	Xp11.2	BMP15	50670523	50676347		Laissue, P.  et al. 2006	16645022				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264			CDC GDP info	9210	Hs.532692			Eur J Endocrinol    2006    154(5)    739-44	Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure		300247		CDC	2006	We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.											
144814	Y	ovarian hyperstimulation syndrome	REPRODUCTION	REP	Ovarian Hyperstimulation Syndrome|Iatrogenic Disease	X	Xp11.2	BMP15	50670523	50676347		Moron, F. J.  et al. 2006	16788381				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264			CDC GDP info	9210	Hs.532692			Pharmacogenet Genomics    2006    16(7)    485-495	Bone morphogenetic protein 15 (BMP15) alleles predict over-response to recombinant follicle stimulation hormone and iatrogenic ovarian hyperstimulation syndrome (OHSS)		300247		CDC	2006	Our results suggest a direct relationship between increased follicle production during COS and BMP15 alleles in response to rFSH in humans.											
144815		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Genetic Predisposition to Disease	X	Xp11.2	BMP15	50670523	50676347		Chand, A. L.  et al. 2006	17027369				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264		New Zealand	CDC GDP info	9210	Hs.532692			Fertil Steril    2006    86(4)    1009-1012	Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure		300247		CDC	2006												
144816	N	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Genetic Predisposition to Disease	X	Xp11.2	BMP15	50670523	50676347		Zhang, P.  et al. 2007	17464588				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264			CDC GDP info	9210	Hs.532692			Acta Obstet Gynecol Scand    2007    86(5)    585-9	Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure		300247		CDC	2007	Our findings indicate that mutations in BMP-15 exons, or changes in BMP-15 pro-peptide, are rare in Chinese women with POF. In addition, our data suggest that the 2 SNPs are not related to POF in Chinese women, while providing evidence for SNP variation between different races.											
144818		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	20	20p12	BMP2	6696744	6708910		Valdes, A. M.  et al. 2006	16453284				Bone morphogenetic protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001200.2		Great Britain	CDC GDP info	650	Hs.73853			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		112261		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
144819		bone density	METABOLIC	MET		20	20p12	BMP2	6696744	6708910		Choi, J. Y.  et al. 2006	16604289				Bone morphogenetic protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001200.2	Korean		CDC GDP info	650	Hs.73853			Calcif Tissue Int    2006    78(4)    203-11	Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young korean men and women		112261		CDC	2006												
144820	N	osteoporosis	METABOLIC	MET	Osteoporosis	20	20p12	BMP2	6696744	6708910		Medici, M.  et al. 2006	16753015				Bone morphogenetic protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001200.2		Netherlands	CDC GDP info	650	Hs.73853			J Bone Miner Res    2006    21(6)    845-54	BMP-2 Gene Polymorphisms and Osteoporosis		112261		CDC	2006												
144821		bone density	METABOLIC	MET		14	14q22-q23	BMP4	53486206	53493362		Choi, J. Y.  et al. 2006	16604289				Bone morphogenetic protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001202.2	Korean		CDC GDP info	652	Hs.68879			Calcif Tissue Int    2006    78(4)    203-11	Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young korean men and women		112262		CDC	2006												
144822		hypospadias	METABOLIC	MET	Hypospadias	14	14q22-q23	BMP4	53486206	53493362		Chen, T.  et al. 2006	17003840				Bone morphogenetic protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001202.2			CDC GDP info	652	Hs.68879			Eur J Hum Genet    2006	Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias		112262		CDC	2006												
144823		bone density	METABOLIC	MET		6	6p24-p23	BMP6	7671303	7828117		Choi, J. Y.  et al. 2006	16604289				Bone morphogenetic protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001718	Korean		CDC GDP info	654	Hs.285671			Calcif Tissue Int    2006    78(4)    203-11	Single-nucleotide polymorphisms and haplotypes of bone morphogenetic protein genes and peripheral bone mineral density in young korean men and women		112266		CDC	2006												
144824	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	6	6p24-p23	BMP6	7671303	7828117		Adewoye, A. H.  et al. 2006	16886151				Bone morphogenetic protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001718			CDC GDP info	654	Hs.285671			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		112266		CDC	2006												
144825		hypospadias	METABOLIC	MET	Hypospadias	20	20q13	BMP7	55178961	55274708		Chen, T.  et al. 2006	17003840				Bone morphogenetic protein 7 (osteogenic protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094784			CDC GDP info	655	Hs.473163			Eur J Hum Genet    2006	Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias		112267		CDC	2006												
144826		hypospadias	METABOLIC	MET	Hypospadias	20	20q13	BMP7	55178961	55274708		Beleza-Meireles, A.  et al. 2007	17264867				Bone morphogenetic protein 7 (osteogenic protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094784			CDC GDP info	655	Hs.473163			Eur J Hum Genet    2007	FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias		112267		CDC	2007												
144828	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	10	10q22.3	BMPR1A	88506375	88674925		Adewoye, A. H.  et al. 2006	16886151				Bone morphogenetic protein receptor, type IA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004329.2			CDC GDP info	657	Hs.524477			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		601299		CDC	2006												
144829		vasoreactivity	CARDIOVASCULAR	CARD	Hypertension, Pulmonary	2	2q33-q34	BMPR2	202949915	203140719		Elliott, C. G.  et al. 2006	16717148				Bone morphogenetic protein receptor, type II (serine/threonine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001204.5			CDC GDP info	659	Hs.471119			Circulation    2006	Relationship of BMPR2 Mutations to Vasoreactivity in Pulmonary Arterial Hypertension		600799		CDC	2006	Patients with familial or idiopathic PAH and nonsynonymous BMPR2 variations are unlikely to demonstrate vasoreactivity.											
144830		periodontal disease	IMMUNE	IMM	Periodontal Diseases	20	20q11.23-q12	BPI	36365998	36399319		Glas, J.  et al. 2006	16893388				Bactericidal/permeability-increasing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001725.1			CDC GDP info	671	Hs.529019			Int J Immunogenet    2006    33(4)    255-260	A645G (Lys216Glu) polymorphism of the bactericidal/permeability-increasing protein gene in periodontal disease		109195		CDC	2006												
144831	Y	infertility, male	REPRODUCTION	REP	Infertility, Male	Y	Yq11	BPY2	23539797	23560998		Choi, J.  et al. 2007	17511727				Basic charge, Y-linked, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004678			CDC GDP info	9083	Hs.664724			Int J Urol    2007    14(5)    431-5	Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype		400013		CDC	2007	The A/A/A genotype may be associated with the SCO phenotype. The alteration of all three copies of BPY2 within the AZFc region on the Y chromosome may affect spermatogenic process.											
144833	Y	thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms	7	7q34	BRAF	140080751	140271033		Sapio, M. R.  et al. 2006	16452550				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Eur J Endocrinol    2006    154(2)    341-8	Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA)		164757		CDC	2006	BRAF(V600E) is present in PTC, both in the classic form and in follicular variant with similar prevalence.											
144834		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Neoplasms, Radiation-Induced	7	7q34	BRAF	140080751	140271033		Collins, B. J.  et al. 2006	16487015				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Thyroid    2006    16(1)    61-6	Low Frequency of BRAF Mutations in Adult Patients with Papillary Thyroid Cancers Following Childhood Radiation Exposure		164757		CDC	2006												
144835	Y	thyroid cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Papillary, Follicular|Thyroid Neoplasms|Neoplasm Recurrence, Local	7	7q34	BRAF	140080751	140271033		Riesco-Eizaguirre, G.  et al. 2006	16601293	BRAFV600E			V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Endocr Relat Cancer    2006    13(1)    257-269	The oncogene BRAFV600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane		164757		CDC	2006												
144836		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	7	7q34	BRAF	140080751	140271033		Lievre, A.  et al. 2006	16618717				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Cancer Res    2006    66(8)    3992-5	KRAS Mutation Status Is Predictive of Response to Cetuximab Therapy in Colorectal Cancer		164757		CDC	2006	in this study, KRAS mutations are a predictor of resistance to cetuximab therapy and are associated with a worse prognosis.		cetuximab									
144838		skin cancer, non-melanoma	CANCER	CAN	Nevus	7	7q34	BRAF	140080751	140271033		Ichii-Nakato, N.  et al. 2006	16691193				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			J Invest Dermatol    2006    126(9)    2111-8	High frequency of BRAFV600E mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium-sized congenital nevi		164757		CDC	2006												
144839	P	thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms	7	7q34	BRAF	140080751	140271033		Fugazzola, L.  et al. 2006	16728573				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3	Italian	Italy	CDC GDP info	613	Hs.550061			Endocr Relat Cancer    2006    13(2)    455-64	Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma		164757		CDC	2006	the present study reports the prevalence of B-RAF (V600E) (38%) in the largest series of sporadic PTCs, including 260 cases from three different Italian referring centers. This prevalence is similar to that calculated by pooling together all data previously reported, 39.6% (759 out of 1914 cases), thus indicating that the prevalence of this genetic event lies around 38-40%. Furthermore, B-RAF (V600E) was confirmed to be associated with the papillary growth pattern, but not with poorer differentiated PTC variants. A significant association of B-RAF mutation was also found with an older age at diagnosis, the mutation being very rare in childhood and adolescent PTCs. Finally, no correlation was found with a poorer prognosis and a worse outcome after a median follow-up of 72 months.											
144840	Y	thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Neoplasm Recurrence, Local	7	7q34	BRAF	140080751	140271033		Kim, T. Y.  et al. 2006	16918957				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Clin Endocrinol (Oxf)    2006    65(3)    364-8	The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma		164757		CDC	2006	Although the BRAF(V600E) mutation was found to be associated with a higher clinical recurrence of disease in low-risk conventional PTC patients, it was not an independent predictor.											
144841		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Zhao, Z. Z.  et al. 2006	16973828				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3		Queensland	CDC GDP info	613	Hs.550061			Mol Hum Reprod    2006	KRAS variation and risk of endometriosis		164757		CDC	2006												
144842	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Samowitz, W. S.  et al. 2006	17148775				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			J Natl Cancer Inst    2006    98(23)    1731-8	Association of Smoking, CpG Island Methylator Phenotype, and V600E BRAF Mutations in Colon Cancer		164757		CDC	2006	Previously identified associations between smoking and colon cancer, whether microsatellite unstable or stable, appear to be explained by the association of smoking with CIMP and BRAF mutations.		smoking (tobacco)									
144843	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	7	7q34	BRAF	140080751	140271033		Liu, W.  et al. 2007	17159915				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			J Invest Dermatol    2007    127(4)    900-5	Distinct clinical and pathological features are associated with the BRAF(T1799A(V600E)) mutation in primary melanoma		164757		CDC	2007	the BRAF(T1799A) mutation has associations with host phenotype, tumor location, and pigmentation.											
144846		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Ogino, S.  et al. 2007	17270239				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Hum Pathol    2007	TGFBR2 mutation is correlated with CpG island methylator phenotype in microsatellite instability-high colorectal cancer		164757		CDC	2007	TGFBR2 mutation is associated with CIMP-high and indirectly with RUNX3 methylation. Our findings emphasize the importance of analyzing global epigenomic status (for which CIMP status is a surrogate marker) when correlating a single epigenetic event (eg, RUNX3 methylation) with any other molecular or clinicopathologic variables.											
144847		ovarian cancer	CANCER	CAN	Cystadenoma, Serous|Ovarian Neoplasms|Disease Progression|Genetic Predisposition to Disease	7	7q34	BRAF	140080751	140271033		Ueda, M.  et al. 2007	17309670				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Int J Gynecol Cancer    2007	Germ line and somatic mutations of BRAF V599E in ovarian carcinoma		164757		CDC	2007												
144848		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Lagerstedt Robinson, K.  et al. 2007	17312306				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			J Natl Cancer Inst    2007    99(4)    291-9	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics		164757		CDC	2007	Our findings suggest that missense MMR gene mutations are common in HNPCC and that germline MMR mutations are also found in patients with MSI-negative tumors.											
144849	P	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7q34	BRAF	140080751	140271033		Symvoulakis, E. K.  et al. 2007	17393356				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3	Greek		CDC GDP info	613	Hs.550061			Int J Biol Markers    2007    22(1)    12-8	Highly conserved sequence of exon 15 BRAF gene and KRAS codon 12 mutation among Greek patients with colorectal cancer		164757		CDC	2007	Despite the limited study sample, our data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas.											
144850		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Loughrey, M. B.  et al. 2007	17453358				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Fam Cancer    2007	Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer		164757		CDC	2007												
144851		lung cancer	CANCER	CAN		7	7q34	BRAF	140080751	140271033		Marks, J. L.  et al. 2007	17487277				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		164757		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
144853		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Lymphatic Metastasis	7	7q34	BRAF	140080751	140271033		Lee, J. H.  et al. 2007	17520704				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Cancer    2007	Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid		164757		CDC	2007												
144854		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Kadiyska, T. K.  et al. 2007	17566669				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Cancer Detect Prev    2007	Frequency and application of the hot spot BRAF gene mutation (p.V600E) in the diagnostic strategy for Hereditary Nonpolyposis Colorectal Cancer		164757		CDC	2007	screening for this mutation is an efficient tool in the diagnostic strategy for HNPCC.											
144855			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Lee, J. K.  et al. 2003	12768436				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Japanese;Caucasian;Korean		CDC GDP info	672	Hs.194143			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		113705		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
144857		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Romanowicz-Makowska, H.  et al. 2005	16477874			5' untranslated region	Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Pol J Pathol    2005    56(4)    161-5	Germline BRCA1 mutations and G/C polymorphism in the 5'-untranslated region of the RAD51 gene in Polish women with breast cancer		113705		CDC	2005												
144859	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17q21	BRCA1	38449839	38530994		Damaraju, S.  et al. 2006	16638864				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		113705		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
144860		lymphoma lymphoma, non-Hodgkin	CANCER	CAN		17	17q21	BRCA1	38449839	38530994		Shen, M.  et al. 2006	16639601				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Hum Genet    2006	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		113705		CDC	2006												
144861		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Chang, T. W.  et al. 2006	16713266				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		113705		CDC	2006												
144862		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Shen, M.  et al. 2006	16728435				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		113705		CDC	2006												
144863		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Shen, M.  et al. 2006	16738949				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Hum Genet    2006    119(6)    659-68	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		113705		CDC	2006												
144864		ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Yazici, H.  et al. 2006	16783967				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Oncol Res    2006    16(1)    43-7	Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?		113705		CDC	2006			family history									
144865		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Romanowicz-Makowska, H.  et al. 2006	16837909				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Exp Oncol    2006    28(2)    156-9	Analysis of RAD51 polymorphism and BRCA1 mutations in polish women with breast cancer		113705		CDC	2006	Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and=or progression of breast cancer.											
144866		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Jakubowska, A.  et al. 2006	17004108			3' untranslated region	Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Breast Cancer Res Treat    2006	The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation		113705		CDC	2006												
144868		chemotherapy-related toxicity	PHARMACOGENOMIC	PHARM	Breast Neoplasms	17	17q21	BRCA1	38449839	38530994		Shanley, S.  et al. 2006	17145825				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Clin Cancer Res    2006    12(23)    7033-8	Acute Chemotherapy-Related Toxicity Is Not Increased in BRCA1 and BRCA2 Mutation Carriers Treated for Breast Cancer in the United Kingdom		113705		CDC	2006	This result has implications for therapy and indicates that women with mutations in BRCA1 and BRCA2 may be given the same doses of chemotherapy as noncarriers.											
144869		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Pepe, C.  et al. 2006	17151928				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Breast Cancer Res Treat    2006	Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers		113705		CDC	2006												
144871		menarche menstrual cycle length	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Henningson, M.  et al. 2007	17307805				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Mol Hum Reprod    2007	CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women		113705		CDC	2007	this study suggests that short menstrual cycles, age at first OC use and BRCA mutation status may need to be considered in studies exploring the relationships between CYP17 and risk factors for early onset breast cancer.											
144872		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Johnson, N.  et al. 2007	17341484				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		113705		CDC	2007												
144873		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasms, Multiple Primary	17	17q21	BRCA1	38449839	38530994			17380889				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Russian		CDC GDP info	672	Hs.194143			Mol Biol (Mosk)    2007    41(1)    37-42	Analysis of BRCA1/2 and CHEK2 mutations in ovarian cancer and primary multiple tumors involving the ovaries. Patients of Russian population using biochips		113705		CDC	2007												
144874		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Microsatellite Instability	17	17q21	BRCA1	38449839	38530994		Romanowicz-Makowska, H.  et al. 2006	17405295				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Pol Merkur Lekarski    2006    21(126)    548-50	Analysis of loss of heterozygosity and microsatellite instability RAD52, RAD54 and RAD54B gene and BRCA1 gene mutation in breast cancer		113705		CDC	2006	The results suggest that the microsatellite instability and LOH seems to be important in the development sporadic breast cancer.											
144876	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Baynes, C.  et al. 2007	17428325				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Breast Cancer Res    2007    9(2)    R27	Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk		113705		CDC	2007	It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.											
144878			NORMALVARIATION	NV		17	17q21	BRCA1	38449839	38530994		Henningson, M.  et al. 2007	17484040				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Fam Cancer    2007	Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families		113705		CDC	2007												
144879	Y	breast cancer	CANCER	CAN		17	17q21	BRCA1	38449839	38530994		Fu, X.  et al. 2007	17557253				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    341-4	Analysis of the mutation of BRCA1 gene in 70 Uigur women breast cancer patients in Xinjiang.		113705		CDC	2007	The mutation of BRCA1 gene may be related to Uigur women breast cancer and bilateral breast cancer.											
144880	P	breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Song, C.  et al. 2006	16456781				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    27-31	BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China.		600185		CDC	2006	Two novel mutations in BRCA1 may be mutations characterized to familial breast cancer of Chinese Shanghai population.											
144882	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Damaraju, S.  et al. 2006	16638864				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		600185		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
144883		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Chang, T. W.  et al. 2006	16713266				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		600185		CDC	2006												
144884		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Shen, M.  et al. 2006	16728435				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		600185		CDC	2006												
144885		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Rudd, M. F.  et al. 2006	16741161				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Caucasian		CDC GDP info	675	Hs.34012			Genome Res    2006    16(6)    693-701	Variants in the GH-IGF axis confer susceptibilityto lung cancer		600185		CDC	2006												
144886	Y	breast cancer	CANCER	CAN	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Golshan, M.  et al. 2006	16769276				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Am J Surg    2006    192(1)    58-62	The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy		600185		CDC	2006	BRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.											
144888		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Manuguerra, M. et al  et al. 2006	16956909				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		600185		CDC	2006												
144890		chemotherapy-related toxicity	PHARMACOGENOMIC	PHARM	Breast Neoplasms	13	13q12.3	BRCA2	31787616	31871809		Shanley, S.  et al. 2006	17145825				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Clin Cancer Res    2006    12(23)    7033-8	Acute Chemotherapy-Related Toxicity Is Not Increased in BRCA1 and BRCA2 Mutation Carriers Treated for Breast Cancer in the United Kingdom		600185		CDC	2006	This result has implications for therapy and indicates that women with mutations in BRCA1 and BRCA2 may be given the same doses of chemotherapy as noncarriers.											
144891		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Pepe, C.  et al. 2006	17151928				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Breast Cancer Res Treat    2006	Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers		600185		CDC	2006												
144892	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Song, C. G.  et al. 2006	17217814				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Zhonghua Wai Ke Za Zhi    2006    44(19)    1310-3	Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer		600185		CDC	2006	Val158Met polymorphism in COMT gene could be a candidate for low penetrance breast cancer susceptibility in Shanghai population, especially among premenopausal women and early-onset breast cancer patients.											
144893		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Johnson, N.  et al. 2007	17341484				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		600185		CDC	2007												
144895		breast cancer	CANCER	CAN		13	13q12.3	BRCA2	31787616	31871809		Johnson, N.  et al. 2007	17409195				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		600185		CDC	2007												
144896	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Baynes, C.  et al. 2007	17428325				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Breast Cancer Res    2007    9(2)    R27	Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk		600185		CDC	2007	It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.											
144897	Y	photoparoxysmal response	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile|Photosensitivity Disorders|Genetic Predisposition to Disease	6	6p21.3	BRD2	33044414	33057059		Lorenz, S.  et al. 2006	16516380				Bromodomain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005104.2	German		CDC GDP info	6046	Hs.75243			Neurosci Lett    2006	Association of BRD2 polymorphisms with photoparoxysmal response		601540		CDC	2006												
144899		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q22-q24	BRIP1	57114766	57295537		Seal, S.  et al. 2006	17033622				BRCA1 interacting protein C-terminal helicase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032043.1			CDC GDP info	83990	Hs.532799			Nat Genet    2006	Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles		605882		CDC	2006												
144900	N	breast cancer ovarian cancer	CANCER	CAN		17	17q22-q24	BRIP1	57114766	57295537		Song, H.  et al. 2007	17342202				BRCA1 interacting protein C-terminal helicase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032043.1			CDC GDP info	83990	Hs.532799			PLoS ONE    2007    2    e268	Tagging Single Nucleotide Polymorphisms in the BRIP1 Gene and Susceptibility to Breast and Ovarian Cancer		605882		CDC	2007	It is unlikely that common variants in BRIP1 contribute significantly to breast cancer susceptibility.											
144901		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	17	17q22-q24	BRIP1	57114766	57295537		Figueroa, J. D.  et al. 2007	17557904				BRCA1 interacting protein C-terminal helicase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032043.1			CDC GDP info	83990	Hs.532799			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		605882		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
144903		heart rate hypertension renin activity	CARDIOVASCULAR	CARD	Hypertension	1	1p32.1	BSND	55237204	55247053		Barlassina, C.  et al. 2007	17510212				Bartter syndrome, infantile, with sensorineural deafness (Barttin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY034632			CDC GDP info	7809	Hs.151291			Hum Mol Genet    2007	Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension		606412		CDC	2007			sodium									
144904	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q13-q21	BTC	75890471	75938853		Nakano, Y.  et al. 2005	16306376			promoter	Betacellulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001729.1			CDC GDP info	685	Hs.591704			Diabetes    2005    54(12)    3560-6	A functional variant in the human betacellulin gene promoter is associated with type 2 diabetes		600345		CDC	2005												
144905	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	4	4q13-q21	BTC	75890471	75938853		Silver, K. D.  et al. 2006	16683131				Betacellulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001729.1	Caucasian		CDC GDP info	685	Hs.591704			J Mol Med    2006	Association of a polymorphism in the betacellulin gene with type 1 diabetes mellitus in two populations		600345		CDC	2006												
144906	N	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q13-q21	BTC	75890471	75938853		Elbein, S. C.  et al. 2006	16869959				Betacellulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001729.1			CDC GDP info	685	Hs.591704			BMC Med Genet    2006    7(1)    62	Analysis of Coding Variants in the Betacellulin Gene in Type 2 Diabetes and Insulin Secretion in African American Subjects		600345		CDC	2006	We were unable to confirm a role for nonsynonymous variants of betacellulin in the propensity to type 2 diabetes or to impaired insulin secretion.											
144907	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	3	3q13.2	BTLA	113667462	113701066		Lin, S. C.  et al. 2006	17024343				B and T lymphocyte associated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181780			CDC GDP info	151888	Hs.445162			J Biomed Sci    2006	Association of a BTLA gene polymorphism with the risk of rheumatoid arthritis				CDC	2006												
144910		tuberculosis	INFECTION	INF	Tuberculosis|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	BTNL2	32470490	32482878		Moller, M.  et al. 2007	17347014				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1	German;South African		CDC GDP info	56244	Hs.534471			Microbes Infect    2007	Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population		606000		CDC	2007												
144911	N	Crohn's disease leprosy, tuberculoid tuberculosis	IMMUNE	IMM	Leprosy|Tuberculosis|Crohn Disease	6	6p21.3	BTNL2	32470490	32482878		Johnson, C. M.  et al. 2007	17493147			splice	Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1	Caucasian		CDC GDP info	56244	Hs.534471			Tissue Antigens    2007    69(3)    236-41	Analysis of the BTNL2 truncating splice site mutation in tuberculosis, leprosy and Crohn's disease		606000		CDC	2007	the truncating BTNL2 SNP is not important in this group of Th1 dominated granulomatous diseases.											
144912	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	BTNL2	32470490	32482878		Mochida, A.  et al. 2007	17610417				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1			CDC GDP info	56244	Hs.534471			Tissue Antigens    2007    70(2)    128-35	Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502		606000		CDC	2007												
144913		stomach cancer	CANCER	CAN	Stomach Neoplasms	10	10q24.32	BTRC	103103814	103307060		Kim, C. J.  et al. 2007	17295679				Beta-transducin repeat containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033637.2			CDC GDP info	8945	Hs.500812			APMIS    2007    115(2)    127-33	Somatic mutations of the beta-TrCP gene in gastric cancer		603482		CDC	2007												
144914		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	2	2q14	BUB1	111111880	111152135		Lo, Y. L.  et al. 2007	17210994				BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF053305			CDC GDP info	699	Hs.469649			Carcinogenesis    2007	Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes		602452		CDC	2007												
144915		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	15	15q15	BUB1B	38240529	38300629		Lo, Y. L.  et al. 2007	17210994				BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF053306			CDC GDP info	701	Hs.631699			Carcinogenesis    2007	Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes		602860		CDC	2007												
144916		breast cancer	CANCER	CAN		15	15q15	BUB1B	38240529	38300629		Vaclavicek, A.  et al. 2007	17268814				BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF053306	German		CDC GDP info	701	Hs.631699			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		602860		CDC	2007												
144917		breast cancer	CANCER	CAN		10	10q26	BUB3	124903859	124914872		Vaclavicek, A.  et al. 2007	17268814				BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK226060	German		CDC GDP info	9184	Hs.418533			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		603719		CDC	2007												
144918	Y	hypertension	CARDIOVASCULAR	CARD		10	10q23.31	C10orf59	90023600	90332988		Zhao, Q.  et al. 2007	17216203				Chromosome 10 open reading frame 59	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK002080			CDC GDP info	55328	Hs.149849			J Mol Med    2007	Renalase gene is a novel susceptibility gene for essential hypertension		609360		CDC	2007												
144919	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12	C17orf37	35138934	35140314		Benusiglio, P. R.  et al. 2006	17117180				Chromosome 17 open reading frame 37	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC063395			CDC GDP info	84299	Hs.333526			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer				CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
144921	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	X	Xq24	C1GALT1C1	119643561	119647969		Li, G. S.  et al. 2007	17228361				C1GALT1-specific chaperone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC012502			CDC GDP info	29071	Hs.643920			Kidney Int    2007	Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy		300611		CDC	2007												
144922		breast cancer	CANCER	CAN	Carcinoma|Bone Neoplasms|Breast Neoplasms|Liver Neoplasms|Brain Neoplasms|Neoplasm Metastasis|Lymphatic Metastasis|Genetic Predisposition to Disease	1	1p36.3-p34.1	C1QA	22835704	22838762		Racila, E.  et al. 2006	16465510				Complement component 1, q subcomponent, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015991.2			CDC GDP info	712	Hs.632379			Immunogenetics    2006        1-8	The pattern of clinical breast cancer metastasis correlates with a single nucleotide polymorphism in the C1qA component of complement		120550		CDC	2006												
144923	Y	macular degeneration	VISION	VIS	Macular Degeneration	6	6p21.3	C2	31973542	32021427		Gold, B.  et al. 2006	16518403				Complement component 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000063.3			CDC GDP info	717	Hs.408903			Nat Genet    2006    38(4)    458-62	Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration		217000		CDC	2006												
144925	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Celiac Disease	19	19p13.3-p13.2	C3	6628845	6671662		Tello-Ruiz, M. K.  et al. 2006	16570073				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1			CDC GDP info	718	Hs.529053			Eur J Hum Genet    2006	Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19		120700		CDC	2006	we analyzed 465 SNPs, and 260 haplotypes distributed across 56 candidate genes.											
144926		obstructive chronic bronchopneumopathie	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	19	19p13.3-p13.2	C3	6628845	6671662		Leban, N.  et al. 2007	17502296				Complement component 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000064.1	Tunisian		CDC GDP info	718	Hs.529053			Ann Biol Clin (Paris)    2007    65(3)    251-6	C3 complement polymorphism in patients suffering from obstructive chronic bronchopneumopathy in Tunisia.		120700		CDC	2007												
144928		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	C4A	32057812	32078435		Palikhe, A.  et al. 2007	17212707				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2			CDC GDP info	720	Hs.534847			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		120810		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
144929		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	C4B	32057812	32078435		Palikhe, A.  et al. 2007	17212707				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029			CDC GDP info	432395	Hs.534847			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		120820		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
144930		angina myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Angina Pectoris|Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.3	C4B	32057812	32078435		Arason, G. J.  et al. 2007	17425651				Complement component 4B, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002029	Caucasian;Icelandic		CDC GDP info	432395	Hs.534847			Clin Exp Immunol    2007	Smoking and a complement gene polymorphism interact in promoting cardiovascular disease morbidity and mortality		120820		CDC	2007			smoking (tobacco)									
144932		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	6	6p24.1	C6orf105	11821894	11887052		Park, J. W.  et al. 2006	16415175				Chromosome 6 open reading frame 105	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123258			CDC GDP info	84830	Hs.126409			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts				CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
144933	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	5	5p13	C7	40945355	41018798		Dinu, V.  et al. 2007	17266113				Complement component 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000587.2			CDC GDP info	730	Hs.78065			Genet Epidemiol    2007	Evidence for association between multiple complement pathway genes and AMD		217070		CDC	2007												
144935	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	12	12p13.3	CACNA1C	1950489	1950627		Bremer, T.  et al. 2006	16610939				Calcium channel, voltage-dependent, L type, alpha 1C subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000719	Caucasian		CDC GDP info	775	Hs.118262			Pharmacogenomics    2006    7(3)    271-9	CACNA1C polymorphisms are associated with the efficacy of calcium channel blockers in the treatment of hypertension		114205		CDC	2006			calcium channel blocker									
144936		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	17	17q22	CACNA1G	45993447	46059541		Singh, B.  et al. 2007	17397049				Calcium channel, voltage-dependent, T type, alpha 1G subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198396			CDC GDP info	8913	Hs.591169			Hum Mutat    2007    28(5)    524-525	Mutational analysis of CACNA1G in idiopathic generalized epilepsy		604065		CDC	2007												
144937		autism	PSYCH	PSY	Autistic Disorder	16	16p13.3	CACNA1H	1143241	1211773		Splawski, I.  et al. 2006	16754686				Calcium channel, voltage-dependent, alpha 1H subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021098.2			CDC GDP info	8912	Hs.459642			J Biol Chem    2006	CACNA1H mutations in autism spectrum disorders		607904		CDC	2006	the identified mutations could contribute to the development of the ASD phenotype.											
144938		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence|Genetic Predisposition to Disease	16	16p13.3	CACNA1H	1143241	1211773		Liang, J.  et al. 2006	17156077				Calcium channel, voltage-dependent, alpha 1H subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021098.2			CDC GDP info	8912	Hs.459642			Ann Hum Genet    2006	Common Polymorphisms in the CACNA1H Gene Associated with Childhood Absence Epilepsy in Chinese Han Population		607904		CDC	2006												
144939	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence	22	22q13.1	CACNA1I	38296703	38415687		Wang, J.  et al. 2006	16939858				Calcium channel, voltage-dependent, T type, alpha 1I subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021096			CDC GDP info	8911	Hs.125116			Pediatr Neurol    2006    35(3)    187-90	CACNA1I Is Not Associated With Childhood Absence Epilepsy in the Chinese Han Population		608230		CDC	2006												
144940	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Absence|Seizures|Genetic Predisposition to Disease	16	16p12-p13.1	CACNG3	24174376	24281238		Everett, K. V.  et al. 2007	17264864				Calcium channel, voltage-dependent, gamma subunit 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK095553			CDC GDP info	10368	Hs.7235			Eur J Hum Genet    2007	Linkage and association analysis of CACNG3 in childhood absence epilepsy		606403		CDC	2007												
144941	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p15.2-p15.1	CALCA	14944791	14950408		Magana, J.  et al. 2006	17026622				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2	Mexican		CDC GDP info	796	Hs.37058			Clin Genet    2006    70(5)    402-408	Association of the CT gene (CA) polymorphism with BMD in osteoporotic mexican women		114130		CDC	2006												
144942	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	11	11p15.2-p15.1	CALCA	14944791	14950408		Morita, A.  et al. 2007	17485015				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2			CDC GDP info	796	Hs.37058			Am J Hypertens    2007    20(5)    527-32	Association Between the Calcitonin-Related Peptide alpha (CALCA) Gene and Essential Hypertension in Japanese Subjects		114130		CDC	2007	A novel 2-bp microdeletion polymorphism was discovered in the CALCA gene. Based on the results of the haplotype-based case control study, the CALCA gene could be the susceptibility gene for EH.											
144944		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	7	7q21.3	CALCR	92891734	93041972			16412323				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDP info	799	Hs.489127			Zhonghua Fu Chan Ke Za Zhi    2005    40(12)    803-7	Study of the impact of candidate genes on bone mineral density in postmenopausal women.		114131		CDC	2005	There is some association between osteoprotegerin, parathyroid hormone genes and BMD in postmenopausal women.											
144945	N	osteoporosis	METABOLIC	MET	Osteoporosis|Cystic Fibrosis	7	7q21.3	CALCR	92891734	93041972		Castellani, C.  et al. 2006	16713399				Calcitonin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001742.2			CDC GDP info	799	Hs.489127			J Cyst Fibros    2006	The genetic background of osteoporosis in cystic fibrosis		114131		CDC	2006	There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.											
144946		atherosclerosis, coronary lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	14	14q24-q31	CALM1	89933125	89944363		Luke, M. M.  et al. 2007	17569884				Calmodulin 1 (phosphorylase kinase, delta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006888.3			CDC GDP info	801	Hs.282410			Arterioscler Thromb Vasc Biol    2007	A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease		114180		CDC	2007	The LPA I4399M SNP is associated with$$$ severe CAD and plasma lipoprotein(a) levels.											
144947		warfarin sensitivity	PHARMACOGENOMIC	PHARM		7		CALU	128166671	128198764		Wadelius, M.  et al. 2006	17048007				Calumenin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001219.2			CDC GDP info	813	Hs.652293			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		603420		CDC	2006												
144948		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Cerebrovascular Accident	7		CALU	128166671	128198764		Kimura, R.  et al. 2006	17049586				Calumenin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001219.2			CDC GDP info	813	Hs.652293			Thromb Res    2006	Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients		603420		CDC	2006												
144949		protein C protein S	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7		CALU	128166671	128198764		Kimura, R.  et al. 2006	17189218				Calumenin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001219.2			CDC GDP info	813	Hs.652293			Int J Hematol    2006    84(5)    387-97	Polymorphisms in Vitamin K-Dependent gamma-Carboxylation-Related Genes Influence Interindividual Variability in Plasma Protein C and Protein S Activities in the General Population		603420		CDC	2006												
144951		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q22	CAMK2G	75242264	75304349		Morgan, A. R.  et al. 2007	17373700				Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209474			CDC GDP info	818	Hs.523045			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		602123		CDC	2007												
144952		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.2	CAMKK1	3710365	3743086		Rudd, M. F.  et al. 2006	16741161				Calcium/calmodulin-dependent protein kinase kinase 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128601	Caucasian		CDC GDP info	84254	Hs.8417			Genome Res    2006    16(6)    693-701	Variants in the GH-IGF axis confer susceptibilityto lung cancer				CDC	2006												
144953		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	12	12q24.2	CAMKK2	120159877	120220494		Barden, N.  et al. 2006	16673375				Calcium/calmodulin-dependent protein kinase kinase 2, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006549	Canadian;French	France	CDC GDP info	10645	Hs.297343			Am J Med Genet B Neuropsychiatr Genet    2006	Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder				CDC	2006												
144954		anxiety disorder	PSYCH	PSY	Anxiety Disorders|Agoraphobia|Panic Disorder|Phobic Disorders	12	12q24.2	CAMKK2	120159877	120220494		Erhardt, A.  et al. 2006	17197037				Calcium/calmodulin-dependent protein kinase kinase 2, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006549			CDC GDP info	10645	Hs.297343			J Affect Disord    2006	Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders				CDC	2006	The locus 12q24.											
144955		memory disturbance	PSYCH	PSY		1	1p36.31-p36.23	CAMTA1	6767970	7752351		Huentelman, M. J.  et al. 2007	17470457				Calmodulin binding transcription activator 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015215			CDC GDP info	23261	Hs.397705			Hum Mol Genet    2007	Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance				CDC	2007												
144957	P		NORMALVARIATION	NV		2	2q37.3	CAPN10	241174817	241205795		Xu, Q.  et al. 2006	16456802				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Japanese;Chinese;Caucasian;Indian;Korean;Mexican;Mexican American;Pima Indians	China	CDC GDP info	11132	Hs.112218			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    100-2	Single nucleotide polymorphisms and genotype combinations in calpain-10 gene of Korean population.		605286		CDC	2006	The distribution of SNPs in calpain-10 gene in Korean is similar to that in Chinese and Japanese, but different from that reported in Caucasian, American Mexicans and American Pima Indians.											
144959	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Kang, E. S.  et al. 2006	16721485				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	European;Korean;Mexican		CDC GDP info	11132	Hs.112218			J Hum Genet    2006	A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes		605286		CDC	2006	we found that a novel 111/121 diplotype in Calpain-10 gene is associated with T2DM in the Korean population.											
144960		insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Pihlajamaki, J.  et al. 2006	16752174				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			Diabetologia    2006    49(7)    1560-6	Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes		605286		CDC	2006	 SNP-43 of CAPN10 may contribute to the risk of diabetes by regulating abdominal obesity in subjects with high risk of type 2 diabetes.											
144961	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q37.3	CAPN10	241174817	241205795		Tsuchiya, T. et.al.  et al. 2006	16837224				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	European		CDC GDP info	11132	Hs.112218			Mol Genet Metab    2006	Association of the calpain-10 gene with type 2 diabetes in Europeans		605286		CDC	2006												
144962	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	2	2q37.3	CAPN10	241174817	241205795		Vollmert, C.  et al. 2006	17106059				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	German		CDC GDP info	11132	Hs.112218			Am J Physiol Endocrinol Metab    2006	Calpain-10 Variants and Haplotypes are Associated with Polycystic Ovary Syndrome in Caucasians		605286		CDC	2006												
144963	Y	laryngeal cancer	CANCER	CAN	Laryngeal Neoplasms	2	2q37.3	CAPN10	241174817	241205795		Esteban, F.  et al. 2007	17382509				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			Eur J Surg Oncol    2007	CAPN10 alleles modify laryngeal cancer risk in the Spanish population		605286		CDC	2007	These results indicate that some CAPN10 alleles may be exerting a protective effect on laryngeal cancer risk in the Spanish population.											
144964		metabolic syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism|Metabolic Syndrome X	2	2q37.3	CAPN10	241174817	241205795		Wiltgen, D.  et al. 2007	17454172				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2	Brazilian		CDC GDP info	11132	Hs.112218			Gynecol Endocrinol    2007    23(3)    173-8	CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome		605286		CDC	2007												
144966	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Sale, M. M.  et al. 2007	17601994				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		605286		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
144967	Y	cardiovascular complications diabetes, type 2 hypertension obesity polycystic ovarian syndrome	CARDIOVASCULAR	CARD	Polycystic Ovary Syndrome|Hypertension|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q14	CAPN5	76455639	76514846			16396936				Calpain 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004055			CDC GDP info	726	Hs.248153			Hum Reprod    2006	Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome		602537		CDC	2006	These results suggest a role of CAPN5 gene in PCOS susceptibility in humans.											
144968	Y	blood pressure, arterial body mass cholesterol, HDL metabolic syndrome	CARDIOVASCULAR	CARD	Hypertension|Metabolic Syndrome X	11	11q14	CAPN5	76455639	76514846		Saez, M. E.  et al. 2007	17227582				Calpain 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004055			CDC GDP info	726	Hs.248153			BMC Med Genet    2007    8(1)    1	Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels		602537		CDC	2007	As its homologue CAPN10, CAPN5 seems to influence traits related to increased risk for cardiovascular diseases.											
144969	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	19		CARD8	53398216	53450962		McGovern, D. P.  et al. 2006	17030188				Caspase recruitment domain family, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	22900	Hs.446146			Gastroenterology    2006    131(4)    1190-6	TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease				CDC	2006	We have shown an association between a likely functional polymorphism in TUCAN and CD.		smoking (tobacco)									
144970		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	19		CARD8	53398216	53450962		Henckaerts, L. C.  et al. 2007	17595233				Caspase recruitment domain family, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	22900	Hs.446146			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease				CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
144972	N	methamphetamine abuse	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced|Amphetamine-Related Disorders|Genetic Predisposition to Disease	5	5q13.2	CART	71050750	71052628		Morio, A.  et al. 2006	17105939				Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			CDC GDP info	9607	Hs.1707			Ann N Y Acad Sci    2006    1074    411-417	No Association between CART (Cocaine- and Amphetamine-Regulated Transcript) Gene and Methamphetamine Dependence		602606		CDC	2006												
144973	N	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	12	12p12.1	CASC1	25152489	25239361			16410263	LRMP V141L			Cancer susceptibility candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001082972			CDC GDP info	55259	Hs.407771			Carcinogenesis    2006	A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients				CDC	2006												
144975	N	breast cancer cervical cancer colorectal cancer esophageal cancer lung cancer stomach cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP10	201755865	201802355		Sun, T.  et al. 2007	17450141			promoter	Caspase 10, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001230.4			CDC GDP info	843	Hs.5353			Nat Genet    2007	A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers		601762		CDC	2007												
144976		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	2	2q33-q34	CASP10	201755865	201802355		Ester, A. R.  et al. 2007	17534194				Caspase 10, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001230.4			CDC GDP info	843	Hs.5353			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		601762		CDC	2007												
144977		cardiac death myocardial dysfunction, non-ischaemic	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	11	11q23	CASP1	104401446	104421261		Blankenberg, S.  et al. 2006	16778130				Caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK223503	European		CDC GDP info	834	Hs.2490			Circ Res    2006	Haplotypes of the Caspase-1 Gene, Plasma Caspase-1 Levels, and Cardiovascular Risk		147678		CDC	2006												
144978		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	11	11q23	CASP1	104401446	104421261		Ali, S.  et al. 2007	17477815				Caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK223503			CDC GDP info	834	Hs.2490			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		147678		CDC	2007												
144980		breast cancer colorectal cancer liver cancer lung cancer stomach cancer	CANCER	CAN	Carcinoma|Carcinoma, Hepatocellular|Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms|Liver Neoplasms|Lung Neoplasms	19	19p13.1	CASP14	15024014	15027900		Yoo, N. J.  et al. 2007	17558860				Caspase 14, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF097874			CDC GDP info	23581	Hs.672789			Pathology    2007    39(3)    330-3	Mutational analysis of caspase-14 gene in common carcinomas		605848		CDC	2007	These data indicate that caspase-14 gene is rarely mutated in colorectal carcinomas, but not mutated in gastric, lung, breast and hepatocellular carcinomas. The data also suggest that the caspase-14 mutation may not be a direct target of inactivation in tumorigenesis of common carcinomas.											
144981		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	4	4q34	CASP3	185785843	185807623		Lan, Q.  et al. 2006	17071630				Caspase 3, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004346			CDC GDP info	836	Hs.141125			Carcinogenesis    2006	Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphoma		600636		CDC	2006												
144982		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	4	4q34	CASP3	185785843	185807623		Ester, A. R.  et al. 2007	17534194				Caspase 3, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004346			CDC GDP info	836	Hs.141125			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		600636		CDC	2007												
144984		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	10	10q25	CASP7	115428924	115480654		Garcia-Lozano, J. R.  et al. 2007	17504820				Caspase 7, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001227.3	Spanish;Caucasian		CDC GDP info	840	Hs.9216			Rheumatology (Oxford)    2007	Caspase 7 influences susceptibility to rheumatoid arthritis		601761		CDC	2007												
144985		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Son, J. W.  et al. 2006	16938569				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3	Korean		CDC GDP info	841	Hs.591630			Cancer Genet Cytogenet    2006    169(2)    121-7	Polymorphisms in the caspase-8 gene and the risk of lung cancer		601763		CDC	2006												
144986		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Breast Cancer Association, = Consortium  et al. 2006	17018785				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDP info	841	Hs.591630			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		601763		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
144988	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Cox, A. et al  et al. 2007	17293864				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDP info	841	Hs.591630			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		601763		CDC	2007												
144989	Y	breast cancer cervical cancer colorectal cancer esophageal cancer lung cancer stomach cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Sun, T.  et al. 2007	17450141			promoter	Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDP info	841	Hs.591630			Nat Genet    2007	A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers		601763		CDC	2007												
144991		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3-p36.1	CASP9	15689910	15723971		Park, J. Y.  et al. 2006	16687442			promoter	Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2	Korean		CDC GDP info	842	Hs.329502			Hum Mol Genet    2006	Caspase 9 Promoter Polymorphisms and Risk of Primary Lung Cancer		602234		CDC	2006												
144992		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p36.3-p36.1	CASP9	15689910	15723971		Lan, Q.  et al. 2006	17071630				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2			CDC GDP info	842	Hs.329502			Carcinogenesis    2006	Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphoma		602234		CDC	2006												
144994		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	1	1p36.3-p36.1	CASP9	15689910	15723971		Ester, A. R.  et al. 2007	17534194				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2			CDC GDP info	842	Hs.329502			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		602234		CDC	2007												
144995	N	bone density	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032		Lau, H. H.  et al. 2006	16622736				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		601199		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
144996	N	bone mass calcium deoxypyridinoline magnesium osteocalcin phosphorus vitamin D	METABOLIC	MET	Hypertension|Hypercalcemia	3	3q21-q24	CASR	123385219	123488032		Perez-Castrillon, J. L.  et al. 2006	16740430				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			Arch Med Res    2006    37(5)    607-11	Calcium-sensing Receptor Gene A986S Polymorphism and Bone Mass in Hypertensive Women		601199		CDC	2006	We found no clinical significance in the parameters studied of the CaSR gene A986S polymorphism in hypertensive women.											
144997	Y	albumin bone density calcium fractures, vertebral hyperparathyroidism kidney stone disease	METABOLIC	MET	Kidney Calculi|Hyperparathyroidism, Primary	3	3q21-q24	CASR	123385219	123488032		Scillitani, A.  et al. 2006	17018660	CASR SRQ			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			J Clin Endocrinol Metab    2006	Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor		601199		CDC	2006	Our data indicate that the CASR SRQ haplotype is significantly associated with PHPT in our population.											
144998	Y	bone density	METABOLIC	MET		3	3q21-q24	CASR	123385219	123488032		Wang, Y. B.  et al. 2006	17046587				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			Yi Chuan Xue Bao    2006    33(10)    870-80	The Human Calcium-Sensing Receptor and Interleukin-6 Genes are Associated with Bone Mineral Density in Chinese		601199		CDC	2006												
144999		calcium excretion hyperparathyroidism nephrolithiasis	OTHER	OTH	Osteoporosis|Nephrolithiasis|Hypertension|Hyperparathyroidism, Primary	3	3q21-q24	CASR	123385219	123488032		Corbetta, S.  et al. 2006	17062884				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			Eur J Endocrinol    2006    155(5)    687-92	R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism		601199		CDC	2006	The study showed that patients with PHPT, bearing the 990G allele, had lower serum PTH levels and higher urinary calcium excretion in comparison with the other genotype, suggesting an increased sensitivityof the variant receptor to extracellular calcium.											
145000	Y	bone density	METABOLIC	MET	Birth Weight	3	3q21-q24	CASR	123385219	123488032		Lips, M. A.  et al. 2007	17309124				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			J Rheumatol    2007	Interaction Between Birthweight and Polymorphism in the Calcium-Sensing Receptor Gene in Determination of Adult Bone Mass		601199		CDC	2007	We have found evidence of an interaction between a SNP of the CASR gene and birthweight in determination of bone mass in a UK female population.		birth weifht									
145001			METABOLIC	MET	Hypercalcemia|Hypocalcemia|Genetic Predisposition to Disease	3	3q21-q24	CASR	123385219	123488032		Yun, F. H.  et al. 2007	17320849				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2	Caucasian;Asian		CDC GDP info	846	Hs.435615			Clin Biochem    2007	Genetic variation at the calcium-sensing receptor (CASR) locus		601199		CDC	2007	These analyses provide an important framework for appropriate interpretation of CASR mutation screening now offered by a number of laboratories for the diagnosis of calcium disorders.											
145003	Y	hypercalciuria	METABOLIC	MET	Genetic Predisposition to Disease|Hypercalciuria	3	3q21-q24	CASR	123385219	123488032		Vezzoli, G.  et al. 2007	17332735	R990G			Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			Kidney Int    2007	R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria		601199		CDC	2007												
145004	Y	calcium cardiac death heart disease, ischemic myocardial infarct phosphate	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3q21-q24	CASR	123385219	123488032		Marz, W.  et al. 2007	17374704				Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000388.2			CDC GDP info	846	Hs.435615			J Clin Endocrinol Metab    2007	Alanine to serine polymorphism at position 986 of the calcium-sensing receptor associated with coronary heart disease, myocardial infarction, all-cause and cardiovascular mortality		601199		CDC	2007	Serine at position 986 of CASR may be an independent genetic predictor of angiographic CAD, previous MI, and cardiovascular mortality.											
145005	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q15-q21	CAST	96023532	96141055		Kokubo, Y.  et al. 2006	17137217				Calpastatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042440.1			CDC GDP info	831	Hs.440961			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		114090		CDC	2006												
145007		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Pask, R.  et al. 2006	16453382				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Moscow;Russian		CDC GDP info	847	Hs.502302			Diabetes Metab Res Rev    2006	No evidence for a major effect of two common polymorphisms of the catalase gene in type 1 diabetes susceptibility		115500		CDC	2006	We found no evidence for a major effect of C1167T or C(-262)T on T1D susceptibility in two large sample collections. Limited statistical evidence of an association at C1167T in USA families and C(-262)T in UK families was found, but these results are likely to be false positives. The previously reported association of these SNPs may also have been a false po											
145008	N	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	11	11p13	CAT	34417053	34450183		Young, R.  et al. 2006	16467073				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Thorax    2006	Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function		115500		CDC	2006	The 213Gly variant of the SOD3 gene may, through antioxidant or anti-inflammatory effects, confer a degree of resistance in some smokers to the development of COPD.											
145009	Y	diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1	11	11p13	CAT	34417053	34450183		Chistiakov, D. A.  et al. 2006	16523188	CAT  -262T	protective	promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Russian		CDC GDP info	847	Hs.502302	protective		Diabetes Metab    2006    32(1)    63-8	The 262T>C promoter polymorphism of the catalase gene is associated with diabetic neuropathy in type 1 diabetic Russian patients		115500		CDC	2006	These data suggest a protective role of the -262T allele of the CAT gene against the rapid development of DN in T1D (Odds Ratio = 0.7 [95% confidence interval 0.54-0.9], P = 0.002).											
145010		vitiligo	IMMUNE	IMM	Vitiligo	11	11p13	CAT	34417053	34450183		Park, H. H.  et al. 2006	16630078				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Korean		CDC GDP info	847	Hs.502302			Exp Dermatol    2006    15(5)    377-80	Association study between catalase gene polymorphisms and the susceptibility to vitiligo in Korean population		115500		CDC	2006												
145012	Y	catalase activity	METABOLIC	MET		11	11p13	CAT	34417053	34450183		Ahn, J.  et al. 2006	16775184				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	African American;Caucasian		CDC GDP info	847	Hs.502302			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1217-22	Associations between Catalase Phenotype and Genotype		115500		CDC	2006			diet									
145014		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	11	11p13	CAT	34417053	34450183		Lightfoot, T. J.  et al. 2006	16956821				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Haematologica    2006    91(9)    1222-7	Polymorphisms in the oxidative stress genes, superoxide dismutase, glutathione peroxidase and catalase and risk of non-Hodgkin's lymphoma		115500		CDC	2006	Analysis of genetic variation in oxidative stress genes in two lymphoma case-control studies suggests a possible role for oxidative stress in the risk of NHL. The risk modification is seen predominantly for marginal zone lymphomas which frequently arise in the context of chronic inflammation. However, in order to clarify the role of oxidative stress in the e											
145015		radiotoxicity	OTHER	OTH	Breast Neoplasms	11	11p13	CAT	34417053	34450183		Ahn, J.  et al. 2006	17145829				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Caucasian		CDC GDP info	847	Hs.502302			Clin Cancer Res    2006    12(23)    7063-70	Polymorphisms in Genes Related to Oxidative Stress (CAT, MnSOD, MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer		115500		CDC	2006	Associations between BMI and radiotoxicity risk may be most apparent among women with genotypes related to higher levels of oxidative stress.		body mass									
145016	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p13	CAT	34417053	34450183		Oh, B.  et al. 2007	17209132	CAT +22348C-->T polymorphism and HT4 of CAT			Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Korean		CDC GDP info	847	Hs.502302			J Med Genet    2007    44(1)    e62	Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women		115500		CDC	2007	These findings indicate that the +22348C-->T polymorphism and HT4 of CAT may be useful genetic markers for bone metabolism.											
145018	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Choi, J. Y.  et al. 2007	17548672				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1115-20	Polymorphisms in oxidative stress-related genes are not associated with prostate cancer risk in heavy smokers		115500		CDC	2007	it does not seem that variants in MnSOD, CAT, or GPX1 have an influence on prostate cancer risk in this cohort of men who were smokers or exposed to asbestos, although it is possible that cumulative defects in protection from oxidative stress may result in increased risk of the disease.											
145019	Y	gastric atrophy gastric disease	OTHER	OTH	Helicobacter Infections|Intestinal Neoplasms|Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic|Metaplasia	11	11p13	CAT	34417053	34450183		Steenport, M.  et al. 2007	17549373				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Oncol Rep    2007    18(1)    235-40	Association of polymorphisms in myeloperoxidase and catalase genes with precancerous changes in the gastric mucosa of patients at inner-city hospitals in New York		115500		CDC	2007												
145020		catalase activity chronic obstructive pulmonary disease/COPD	METABOLIC	MET	Pulmonary Disease, Chronic Obstructive	11	11p13	CAT	34417053	34450183		Mak, J. C.  et al. 2007	17567676				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Eur Respir J    2007	Polymorphisms and functional activity in SOD and catalase genes in smokers with COPD		115500		CDC	2007												
145021	Y	hearing loss/deafness	OTHER	OTH	Hearing Loss, Noise-Induced|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Konings, A.  et al. 2007	17567781				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Polish		CDC GDP info	847	Hs.502302			Hum Mol Genet    2007	Association between variations in catalase and noise-induced hearing loss in two independent noise-exposed populations		115500		CDC	2007	this study identified significant associations between catalase SNPs and haplotypes and susceptibility to development of NIHL.											
145022		catalase activity diabetes, gestational diabetes, type 1 diabetes, type 2	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	11	11p13	CAT	34417053	34450183		Tarnai, I.  et al. 2007	17577741				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Free Radic Res    2007    41(7)    806-11	Effect of C111T polymorphism in exon 9 of the catalase gene on blood catalase activity in different types of diabetes mellitus		115500		CDC	2007												
145024		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q31.1	CAV1	115952074	115988466		Conde, M. C.  et al. 2006	16820915				Caveolin 1, caveolae protein, 22kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001753.3			CDC GDP info	857	Hs.74034			Oncol Rep    2006    16(2)    353-9	Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer		601047		CDC	2006												
145025	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q31.1	CAV1	115952074	115988466		Yamada, Y.  et al. 2007	17334644				Caveolin 1, caveolae protein, 22kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001753.3		Japan	CDC GDP info	857	Hs.74034			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		601047		CDC	2007												
145026		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	3	3p25	CAV3	8750495	8763451		Arnestad, M.  et al. 2007	17210839				Caveolin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033337	Norwegian		CDC GDP info	859	Hs.98303			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		601253		CDC	2007	We demonstrated that 9.											
145027		Graves' disease	IMMUNE	IMM	Graves Disease	3	3q13.11	CBLB	106859798	107070577		Chen, C. C.  et al. 2005	16459459				Cas-Br-M (murine) ecotropic retroviral transforming sequence b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170662.3			CDC GDP info	868	Hs.430589			J Pediatr Endocrinol Metab    2005    18(11)    1119-26	The CBLB gene and Graves' disease in children		604491		CDC	2005												
145028	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	3	3q13.11	CBLB	106859798	107070577		Payne, F.  et al. 2007	17209142				Cas-Br-M (murine) ecotropic retroviral transforming sequence b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170662.3	Danish		CDC GDP info	868	Hs.430589			J Leukoc Biol    2007	Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes		604491		CDC	2007												
145029	P	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	21	21q22.3	CBS	43346369	43369493		Li, Y.  et al. 2005	15719048				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Beijing Da Xue Xue Bao    2005    37(1)    75-80	Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease		236200		CDC	2005	The study showed presence of ethnic and district difference of gene polymorphisms at these four loci.											
145030		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493			16328059				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		236200		CDC	2006												
145031	Y	homocysteine	METABOLIC	MET		21	21q22.3	CBS	43346369	43369493		Lievers, K. J.  et al. 2006	16791140				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Eur J Hum Genet    2006	Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study		236200		CDC	2006												
145032	N	heart anomalies, congenital	CARDIOVASCULAR	CARD		21	21q22.3	CBS	43346369	43369493		Qiu, X. Q.  et al. 2006	16792904				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(3)    260-3	A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine beta-synthase gene, and environmental factors.		236200		CDC	2006	These results suggested that maternal MTHFR 677TT genotype was one of the risks to the occurrence of CHD in offspring but parents\ CBS gene 833 T-->C mutation did not get involved in CHD. In addition, the occurrence of CHD was related to maternal exposures to pesticides, catching a cold, suffering from diseases, depressed or under nervous condition in the ea											
145034		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	21	21q22.3	CBS	43346369	43369493		Lim, U.  et al. 2006	17119116				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		236200		CDC	2006			Vitamin B6									
145035	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Yu, H.  et al. 2006	17160942				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    635-9	Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis.		236200		CDC	2006	The homozygote of MTHFR C677T (TT) may be a risk factor of DVT.											
145036		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Moore, L. E.  et al. 2007	17311259				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		236200		CDC	2007			diet									
145037		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Lissowska, J.  et al. 2007	17311260				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1		Poland	CDC GDP info	875	Hs.533013			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		236200		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
145039	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Stevens, V. L.  et al. 2007	17548676				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1140-7	Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence		236200		CDC	2007			diet									
145040	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	21	21q22.3	CBS	43346369	43369493		Urreizti, R.  et al. 2007	17553479				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Clin Biochem    2007	A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study		236200		CDC	2007	Our results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies.											
145042		eating patterns	PSYCH	PSY	Obesity	3	3p22-p21.3	CCK	42274321	42282666		de Krom, M.  et al. 2007	17192493				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3	European		CDC GDP info	885	Hs.458426			Diabetes    2007    56(1)    276-80	Common Genetic Variations in CCK, Leptin, and Leptin Receptor Genes Are Associated With Specific Human Eating Patterns		118440		CDC	2007	we identified common allelic variants specifically associated with distinctly different eating patterns, namely extreme snacking behavior or excessive portion size.											
145043		smoking behavior	CHEMDEPENDENCY	CHEM		3	3p22-p21.3	CCK	42274321	42282666		Ton, T. G.  et al. 2007	17365745				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDP info	885	Hs.458426			Nicotine Tob Res    2007    9(1)    147-51	Cholecystokinin C-45T polymorphism and smoking cessation in women		118440		CDC	2007												
145044	Y	hallucinations schizophrenia	PSYCH	PSY	Hallucinations|Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Toirac, I.  et al. 2007	17413443				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDP info	886	Hs.129			Psychiatr Genet    2007    17(2)    47-53	Association between CCK-AR gene and schizophrenia with auditory hallucinations		118444		CDC	2007	Our data support a possible role of the CCK-AR gene in the vulnerability to schizophrenia in patients with auditory hallucinations, and suggest remarkable allele heterogeneity.											
145045	N	hallucinations schizophrenia	PSYCH	PSY	Hallucinations|Schizophrenia	4	4p15.1-p15.2	CCKAR	26092115	26101140		Minato, T.  et al. 2007	17413452				Cholecystokinin A receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000730.2			CDC GDP info	886	Hs.129			Psychiatr Genet    2007    17(2)    117-9	Association study between the cholecystokinin A receptor gene and schizophrenia in the Japanese population		118444		CDC	2007	the present results may not provide evidence for the association between the CCK-AR gene and schizophrenia in the Japanese population.											
145046	Y	asthma	IMMUNE	IMM	Asthma	17	17q21.1-q21.2	CCL11	29636799	29639312		Raby, B. A.  et al. 2006	16461130				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDP info	6356	Hs.54460			J Allergy Clin Immunol    2006    117(2)    298-305	Eotaxin polymorphisms and serum total IgE levels in children with asthma		601156		CDC	2006	These findings provide further evidence that genetic variation at the CCL11 locus is an important determinant of serum total IgE levels among patients with asthma.											
145047		atherosclerosis, coronary eotaxin concentration myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q21.1-q21.2	CCL11	29636799	29639312		Sheikine, Y.  et al. 2006	16510147				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2		Sweden	CDC GDP info	6356	Hs.54460			Atherosclerosis    2006	Influence of eotaxin 67G>A polymorphism on plasma eotaxin concentrations in myocardial infarction survivors and healthy controls		601156		CDC	2006	our results show that there is no clear association between the presence of eotaxin 67G>A SNP, its plasma levels and CAD parameters in post-MI patients and that circulating eotaxin levels do not differ between subjects with clinical manifestations of coronary atherosclerosis and healthy controls.											
145048	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312		Takabatake, N.  et al. 2006	16864713				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDP info	6356	Hs.54460			Am J Respir Crit Care Med    2006	A Single Polymorphism in CCL1 Gene Predicts Acute Exacerbations in COPD		601156		CDC	2006	Variants in the CCL1 gene are associated with susceptibility to AEs through their potential implication in the host defense mechanisms against AEs.											
145049		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q21.1-q21.2	CCL11	29636799	29639312		Bugeja, M. J.  et al. 2006	16872505				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDP info	6356	Hs.54460			BMC Med Genet    2006    7(1)    64	An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians		601156		CDC	2006	Our results implicate several chemokines as possibly being associated with MS susceptibility, and given that chemokines and their receptors are suitable targets for therapeutic agents, further investigation is warranted in this region.											
145050		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	17	17q21.1-q21.2	CCL11	29636799	29639312		Yamaguchi, S.  et al. 2006	17016617				Chemokine (C-C motif) ligand 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002986.2			CDC GDP info	6356	Hs.54460			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		601156		CDC	2006												
145051	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q12	CCL1	29711511	29714365		Takabatake, N.  et al. 2006	16864713				Chemokine (C-C motif) ligand 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DA620119			CDC GDP info	6346	Hs.72918			Am J Respir Crit Care Med    2006	A Single Polymorphism in CCL1 Gene Predicts Acute Exacerbations in COPD		182281		CDC	2006	Variants in the CCL1 gene are associated with susceptibility to AEs through their potential implication in the host defense mechanisms against AEs.											
145052		leishmaniasis, visceral	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	17	17q12	CCL1	29711511	29714365		Jamieson, S. E.  et al. 2007	17122780				Chemokine (C-C motif) ligand 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DA620119			CDC GDP info	6346	Hs.72918			Genes Immun    2007    8(1)    84-90	Genome-wide scan for visceral leishmaniasis susceptibility genes in Brazil		182281		CDC	2007												
145054		HIV	INFECTION	INF	HIV Infections	17	17q11.2-q21.1	CCL2	29606408	29608333		Singh, K. K.  et al. 2006	16439891				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			AIDS    2006    20(3)    475-478	Impact of MCP-1-2518-G allele on the HIV-1 disease of children in the United States		158105		CDC	2006												
145055		alopecia areata	IMMUNE	IMM	Alopecia Areata|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Hong, S. B.  et al. 2006	16479072			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		CDC GDP info	6347	Hs.303649			J Korean Med Sci    2006    21(1)    90-4	Analysis of the monocyte chemoattractant protein 1 -2518 promoter polymorphism in korean patients with alopecia areata		158105		CDC	2006												
145056		pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis	17	17q11.2-q21.1	CCL2	29606408	29608333			16524739				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			Cytokine    2006	Polymorphisms in chemokine and chemokine receptor genes and the development of coal workers' pneumoconiosis		158105		CDC	2006												
145057	Y	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Disease Susceptibility|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Sass, D. A.  et al. 2006	16636603	CCL2 -2518 G			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649	severity factor for acute pancreatitis		Pancreatology    2006    6(4)    297-300	The MCP-1 -2518 A/G Polymorphism Is Not a Susceptibility Factor for Chronic Pancreatitis		158105		CDC	2006	Although the pro-inflammatory chemokine MCP-1 -2518 G allele is a severity factor for AP, it does not significantly alter susceptibility to CP.											
145059	Y	intima-media thickness	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Brenner, D.  et al. 2006	16741188				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3		France	CDC GDP info	6347	Hs.303649			Stroke    2006	Cytokine Polymorphisms Associated With Carotid Intima-Media Thickness in Stroke Patients		158105		CDC	2006	The OPN and MCP-1 genes, coding for 2 cytokines with known roles in atherosclerosis, may contribute to increased carotid IMT and warrant further study.											
145060	Y	Chagas disease	INFECTION	INF	Chagas Cardiomyopathy|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Ramasawmy, R.  et al. 2006	16804844				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			Clin Infect Dis    2006    43(3)    305-11	The monocyte chemoattractant protein-1 gene polymorphism is associated with cardiomyopathy in human chagas disease		158105		CDC	2006	The CCL2 variant correlated with a low transcriptional level behaves as a genetic modifier of clinical outcome for T.											
145061		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	17	17q11.2-q21.1	CCL2	29606408	29608333		Ozyurek, A. R.  et al. 2006	16835702			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Turkish		CDC GDP info	6347	Hs.303649			Clin Rheumatol    2006	Allelic frequency of the MCP-1 promoter -2518 polymorphism in the Turkish population and in Turkish patients with juvenile rheumatoid arthritis		158105		CDC	2006												
145062		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Bugeja, M. J.  et al. 2006	16872505				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			BMC Med Genet    2006    7(1)    64	An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians		158105		CDC	2006	Our results implicate several chemokines as possibly being associated with MS susceptibility, and given that chemokines and their receptors are suitable targets for therapeutic agents, further investigation is warranted in this region.											
145063		HIV	PHARMACOGENOMIC	PHARM	HIV Infections	17	17q11.2-q21.1	CCL2	29606408	29608333		Coll, B.  et al. 2006	16903979				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			HIV Med    2006    7(6)    356-60	Influence of a monocyte chemoattractant protein 1 mutated allele on the response to protease inhibitor-based antiretroviral therapy		158105		CDC	2006	A better response to PI treatment appears to be conferred by mutations in the host MCP-1 and CCR-2 genes, and may be related to the cellular axis-of-entry used by the retrovirus.		antiretroviral									
145065	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q21.1	CCL2	29606408	29608333		Landi, S.  et al. 2006	17062130				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		158105		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
145066		dermatomyositis polymyositis	IMMUNE	IMM	Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Chinoy, H.  et al. 2006	17065190				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Caucasian		CDC GDP info	6347	Hs.303649			Rheumatology (Oxford)    2006	Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians		158105		CDC	2006	Genetic markers in the MCP-1 gene do not demonstrate significant genetic associations with the IIMs, and do not discriminate PM from DM in a UK Caucasian population.											
145067	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	17	17q11.2-q21.1	CCL2	29606408	29608333		Vilades, C.  et al. 2006	17091019	CCL2-2518GG			Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			J Acquir Immune Defic Syndr    2006	Effect of Genetic Variants of CCR2 and CCL2 on the Natural History of HIV-1 Infection		158105		CDC	2006	In our cohort of white Spaniards, homozygosity for the variant CCL2-2518GG genotype is overrepresented in HIV-1-infected subjects.											
145069	Y	diabetes, type 2 metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	17	17q11.2-q21.1	CCL2	29606408	29608333		Sedlmeier, E. M.  et al. 2007	17322498				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			Eur J Endocrinol    2007    156(3)    377-385	Gene variants of monocyte chemoattractant protein 1 and components of metabolic syndrome in KORA S4, Augsburg		158105		CDC	2007	This is the first study to investigate the associations of MCP-1 SNPs with MetS. We found trends for several components of MetS. These parameters were hyperlipidaemia, fasting and 2-h glucose, and uric acid. A new finding is that MCP-1*1 haplotype is associated with$$$ height. Further investigation in larger populations is needed to clarify the involvement of MCP-1 in MetS.											
145070		uveitis	VISION	VIS	Ocular Hypertension|Uveitis, Posterior|Immune System Diseases|Genetic Predisposition to Disease	17	17q11.2-q21.1	CCL2	29606408	29608333		Ahad, M. A.  et al. 2007	17417600				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Caucasian		CDC GDP info	6347	Hs.303649			Mol Vis    2007    13    388-96	Polymorphisms of chemokine and chemokine receptor genes in idiopathic immune-mediated posterior segment uveitis		158105		CDC	2007	Though the utility for prediction of disease susceptibility of the studied polymorphisms in chemokine genes is in general not robust, we have found that polymorphisms in chemokine genes can influence the outcome of patients with idiopathic immune-mediated posterior segment uveitis. These associations require further analysis in other groups of patients.											
145071	N	hepatitis C	INFECTION	INF	Hepatitis C	17	17q11.2-q21.1	CCL2	29606408	29608333		Montes-Cano, M. A.  et al. 2007	17465499				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			World J Gastroenterol    2007    13(15)    2187-92	CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Spanish population		158105		CDC	2007	Our results indicate that the mutations studied in the gene pair CCL2/CCR2 do not play a major role in the outcome and response to treatment for HCV infection in the Spanish population.											
145072	Y	glucose insulin	METABOLIC	MET	Insulin Resistance	17	17q11.2-q21.1	CCL2	29606408	29608333		Maruyama-Furuta, N.  et al. 2007	17490777	promoter -2518 polymorphism		promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			Diabetes Res Clin Pract    2007	Monocyte chemoattractant protein-1 promoter -2518 polymorphism is associated with post-challenge insulin and glucose levels in non-diabetic Japanese subjects		158105		CDC	2007												
145074		asthma	IMMUNE	IMM		7	7q11.23	CCL26	75236777	75257000		Gao, G.  et al. 2006	16604488				Chemokine (C-C motif) ligand 26	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006072.4			CDC GDP info	10344	Hs.131342			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    169-72	The research on the correlation between eotaxin-3 gene polymorphisms and allergic asthma.		604697		CDC	2006	Single nucleotide polymorphism of eotaxin-3 +2497 is associated with the asthma susceptibility, peripheral eosinophil counts and total levels of plasma IgE in adult population from Hubei province, and polymorphism of +77 is associated with peripheral eosinophil counts.											
145075		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q11-q21	CCL3	31439715	31441619		Vyshkina, T.  et al. 2006	16712957				Chemokine (C-C motif) ligand 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR591007			CDC GDP info	6348	Hs.514107			J Neuroimmunol    2006	Analyses of a MS-associated haplotype encompassing the CCL3 gene		182283		CDC	2006												
145076		HIV	INFECTION	INF	HIV Infections	17	17q11-q21	CCL3	31439715	31441619		Shao, W.  et al. 2007	17330138				Chemokine (C-C motif) ligand 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR591007			CDC GDP info	6348	Hs.514107			Genes Immun    2007	CCL3L1 and CCL4L1		182283		CDC	2007												
145077		HIV	INFECTION	INF	HIV Infections	17	17q21.1	CCL3L1	31546381	31548269		Shao, W.  et al. 2007	17330138				Chemokine (C-C motif) ligand 3-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF662985			CDC GDP info	6349	Hs.512683			Genes Immun    2007	CCL3L1 and CCL4L1		601395		CDC	2007												
145078	Y	diabetes, type 1 rheumatoid arthritis	IMMUNE	IMM		17	17q21.1	CCL3L1	31546381	31548269		McKinney, C.  et al. 2007	17604289				Chemokine (C-C motif) ligand 3-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF662985	Caucasian;New Zealand		CDC GDP info	6349	Hs.512683			Ann Rheum Dis    2007	Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis		601395		CDC	2007	These data suggest that increased CCL3L1 expression may enhance inflammatory responses and increase the chance of autoimmune disease.											
145079		HIV	INFECTION	INF	HIV Infections	17	17q12	CCL4	31455332	31457127		Shao, W.  et al. 2007	17330138				Chemokine (C-C motif) ligand 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002984.2			CDC GDP info	6351	Hs.75703			Genes Immun    2007	CCL3L1 and CCL4L1		182284		CDC	2007												
145080		HIV	INFECTION	INF	HIV Infections	17	17q12	CCL4L1	31562580	31564385		Shao, W.  et al. 2007	17330138				chemokine (C-C motif) ligand 4-like 1				CDC GDP info	9560	Hs.661942			Genes Immun    2007	CCL3L1 and CCL4L1				CDC	2007												
145081	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	17	17q11.2-q12	CCL5	31222608	31231490		Vidal, F.  et al. 2006	16340468			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			J Acquir Immune Defic Syndr    2006    41(1)    17-22	Polymorphism of RANTES chemokine gene promoter is not associated with long-term nonprogressive HIV-1 infection of more than 16 years		187011		CDC	2006												
145083	N	liver transplant	OTHER	OTH		17	17q11.2-q12	CCL5	31222608	31231490		Botella, C.  et al. 2006	16441357			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Caucasian		CDC GDP info	6352	Hs.514821			Transpl Int    2006    19(2)    98-104	Lack of association between the -403G/A promoter polymorphism in the human CCL5/RANTES chemokine gene in liver transplant outcome		187011		CDC	2006	human CCL5/RANTES gene promoter polymorphism does not seem to influence acute rejection development and allograft survival in liver recipients.											
145084	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Mokubo, A.  et al. 2006	16442182			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Diabetes Res Clin Pract    2006	Chemotactic cytokine receptor 5 (CCR5) gene promoter polymorphism (59029A/G) is associated with diabetic nephropathy in Japanese patients with type 2 diabetes		187011		CDC	2006												
145085	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Wichukchinda, N.  et al. 2006	16511411	CCL5 -28G			Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			AIDS    2006    20(2)    189-196	Protective Effects of IL4-589T and RANTES-28G on HIV-1 disease progression in infected Thai females		187011		CDC	2006	Our results implicate the significant protective effect of IL4-589T and RANTES-28G on HIV disease progression in Thais. In contrast, RANTES In1.1C without RANTES-28G had an accelerating effect on HIV disease progression.											
145086		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q12	CCL5	31222608	31231490		Duell, E. J.  et al. 2006	16614115				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2		San Francisco	CDC GDP info	6352	Hs.514821			Cancer Epidemiol Biomarkers Prev    2006    15(4)    726-31	Inflammation, Genetic Polymorphisms in Proinflammatory Genes TNF-A, RANTES, and CCR5, and Risk of Pancreatic Adenocarcinoma		187011		CDC	2006			smoking (tobacco)									
145087		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q12	CCL5	31222608	31231490		Sanchez, E.  et al. 2006	16719905				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			BMC Med Genet    2006    7(1)    48	Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus		187011		CDC	2006	These results suggest that the tested functional variation of RANTES, IL-8, IL-1alpha, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.											
145088	Y	atherosclerosis, carotid myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Iwai, N.  et al. 2006	16799229				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Circ J    2006    70(7)    805-9	Assessment of Genetic Effects of Polymorphisms in the MCP-1 Gene on Serum MCP-1 Levels and Myocardial Infarction in Japanese		187011		CDC	2006	The serum MCP-1 level was a good surrogate marker of atherosclerosis in the present study population. Although genetic variations in CCL2 may have some influence on MCP-1 production, their influence does not seem to contribute appreciably to atherosclerosis in Japanese. The present results did not support the recently published findings from the Framingham Heart Study. The discrepancy between the 2 studies may be related to differences in confounding factors that contribute to MCP-1 levels and in the haplotype structure of the 2 populations.											
145089	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Takabatake, N.  et al. 2006	16864713				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Am J Respir Crit Care Med    2006	A Single Polymorphism in CCL1 Gene Predicts Acute Exacerbations in COPD		187011		CDC	2006	Variants in the CCL1 gene are associated with susceptibility to AEs through their potential implication in the host defense mechanisms against AEs.											
145090		HIV	INFECTION	INF	HIV Infections	17	17q11.2-q12	CCL5	31222608	31231490		Suresh, P.  et al. 2006	16865553				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			J Clin Immunol    2006	Gene Polymorphisms in CCR5, CCR2, CX3CR1, SDF-1 and RANTES in Exposed but Uninfected Partners of HIV-1 Infected Individuals in North India		187011		CDC	2006												
145091	Y	HIV	INFECTION	INF	HIV Seropositivity	17	17q11.2-q12	CCL5	31222608	31231490		Cooke, G. S.  et al. 2006	16897666		protective		Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			J Infect Dis    2006    194(5)    666-9	A Polymorphism That Reduces RANTES Expression Is Associated with Protection from Death in HIV-Seropositive Ugandans with Advanced Disease		187011		CDC	2006												
145093		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	17	17q11.2-q12	CCL5	31222608	31231490		Yamaguchi, S.  et al. 2006	17016617				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		187011		CDC	2006												
145094	Y	hepatitis B	INFECTION	INF	Hepatitis B	17	17q11.2-q12	CCL5	31222608	31231490		Ahn, S. H.  et al. 2006	17063508				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Korean		CDC GDP info	6352	Hs.514821			J Med Virol    2006    78(12)    1564-1571	Association of genetic variations in CCR5 and its ligand, RANTES with clearance of hepatitis B virus in Korea		187011		CDC	2006												
145095		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Tanaka, K.  et al. 2006	17117952			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Japanese;German		CDC GDP info	6352	Hs.514821			Int J Immunogenet    2006    33(6)    423-428	Upregulating promoter polymorphisms of RANTES relate to atopic dermatitis		187011		CDC	2006												
145096	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	17	17q11.2-q12	CCL5	31222608	31231490		Park, B. L.  et al. 2006	17202846			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Korean		CDC GDP info	6352	Hs.514821			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		187011		CDC	2006												
145097	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	17	17q11.2-q12	CCL5	31222608	31231490		Savarrio, L.  et al. 2007	17305874				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			J Periodontal Res    2007    42(2)    152-158	Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis		187011		CDC	2007												
145098	N	liver cancer liver disease	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Nahon, P.  et al. 2007	17413295				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Eur J Gastroenterol Hepatol    2007    19(5)    425-31	Lack of association of some chemokine system polymorphisms with the risks of death and hepatocellular carcinoma occurrence in patients with alcoholic cirrhosis		187011		CDC	2007	The present study suggests the lack of association of SDF-1 3\A, MCP-1(-2518), CCR5-Delta32 and CCR2-64I polymorphisms with death and hepatocellular carcinoma occurrence in cirrhotic alcoholic patients.											
145100	Y	kidney transplant	RENAL	REN	Recurrence	17	17q11.2-q12	CCL5	31222608	31231490		Kruger, B.  et al. 2007	17488389				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Clin Transplant    2007    21(3)    385-90	RANTES/CCL5 polymorphisms as a risk factor for recurrent acute rejection		187011		CDC	2007	Our data indicate a relevant role of RANTES in kidney transplantation, particularly for the occurrence of recurrent acute rejection.											
145101		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q11.2-q12	CCL5	31222608	31231490		Jang, Y.  et al. 2007	17504241			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Korean		CDC GDP info	6352	Hs.514821			Clin Sci (Lond)    2007	The RANTES -403G>A promoter polymorphism in Korean men		187011		CDC	2007			lipid lowering drugs									
145103		severe acute respiratory syndrome	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Ng, M. W.  et al. 2007	17540042				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			BMC Infect Dis    2007    7(1)    50	The association of RANTES polymorphism with severe acute respiratory syndrome in Hong Kong and Beijing Chinese		187011		CDC	2007	RANTES -28 G allele plays a role in the pathogenesis of SARS.											
145104		HIV leukoencephalopathy	INFECTION	INF		17	17q11.2-q12	CCL5	31222608	31231490		Guerini, F. R.  et al. 2007	17560067				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Biomed Pharmacother    2007	Analysis of CCR5, CCR2, SDF1 and RANTES gene polymorphisms in subjects with HIV-related PML and not determined leukoencephalopathy		187011		CDC	2007												
145105	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Lee, E. B.  et al. 2007	17599774				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Korean		CDC GDP info	6352	Hs.514821			Arthritis Rheum    2007    56(7)    2443-2448	Evidence of potential interaction of chemokine genes in susceptibility to systemic sclerosis		187011		CDC	2007	Crosstalk between the 2 chemokines CXCL8 and CCL5 may contribute to the susceptibility to SSc.			CCL5		IL8						
145106			NORMALVARIATION	NV		11	11q13	CCND1	69165053	69178423		Hamajima, N.  et al. 2002	12164325				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		168461		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
145107	Y	lung cancer smoking behavior	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423			16406195				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Lung Cancer    2006	Cyclin D1 (CCND1) A870G gene polymorphism modulates smoking-induced lung cancer risk and response to platinum-based chemotherapy in non-small cell lung cancer (NSCLC) patients		168461		CDC	2006	Evidence was obtained that the CCND1 A870G gene polymorphism modulates smoking-induced lung cancer risk. Further studies are required to explore the underlying molecular mechanisms and to test the value of this gene polymorphism as a predictor for platinum-sensitivity in NSCLC patients.		chemotherapy									
145110	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Huang, W. S.  et al. 2006	16552496	CCND1   AA/AG			Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		China|Taiwan	CDC GDP info	595	Hs.523852			Dis Colon Rectum    2006	Impact of the Cyclin D1 A870G Polymorphism on Susceptibility to Sporadic Colorectal Cancer in Taiwan		168461		CDC	2006	Our study suggests that the effect of cyclin D1 gene polymorphism on colorectal cancer risk is only observed in males and AA/AG genotype of cyclin D1 gene is associated with a higher risk of colorectal cancer in the younger patients within the Taiwanese population.											
145111	Y	oral cancer	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Huang, M.  et al. 2006	16638786				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Carcinogenesis    2006	Cyclin D1 gene polymorphism as a risk factor for oral premalignant lesions		168461		CDC	2006	Our results suggest that the CCND1 G870A SNP may contribute to genetic susceptibility to OPLs and involve in oral cancer development.		smoking(									
145112		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Onay, V. U.  et al. 2006	16672066				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		168461		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
145113		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Catarino, R. J.  et al. 2006	16691558				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Head Neck    2006	Association of the A870G cyclin D1 gene polymorphism with genetic susceptibility to nasopharyngeal carcinoma		168461		CDC	2006	Our results may be important in the definition of a biologic predictive profile for the development of NPC within our population.											
145115		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Wang, S. S.  et al. 2006	16783567			splice	Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Hum Genet    2006    120(2)    297-300	Cyclin D1 splice variant and risk for non-Hodgkin lymphoma		168461		CDC	2006												
145116		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	11	11q13	CCND1	69165053	69178423		Zhang, W.  et al. 2006	16788380				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		168461		CDC	2006			cetuximab									
145117		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	CCND1	69165053	69178423		Probst-Hensch, N. M.  et al. 2006	16829689				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Singapore	Singapore	CDC GDP info	595	Hs.523852			Carcinogenesis    2006	The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study		168461		CDC	2006												
145118	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	11	11q13	CCND1	69165053	69178423		Kruger, S.  et al. 2006	16832876				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Cancer Lett    2006    236(2)    191-7	Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancer		168461		CDC	2006												
145119		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute|Leukemia, Lymphocytic, Acute, L1|Hematologic Diseases	11	11q13	CCND1	69165053	69178423		Costea, I.  et al. 2006	16870553				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Haematologica    2006	Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia		168461		CDC	2006												
145121		lung cancer	CANCER	CAN	Lung Neoplasms|Disease Susceptibility	11	11q13	CCND1	69165053	69178423		Sobti, R. C.  et al. 2006	17011980				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Cancer Genet Cytogenet    2006    170(2)    108-14	Effects of cyclin D1 (CCND1) polymorphism on susceptibility to lung cancer in a North Indian population		168461		CDC	2006			smoking (tobacco)									
145123		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Disease Progression|Genomic Instability	11	11q13	CCND1	69165053	69178423		Izzo, J. G.  et al. 2007	17308274				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			J Clin Oncol    2007    25(6)    698-707	Cyclin D1 Guanine/Adenine 870 Polymorphism With Altered Protein Expression Is Associated With Genomic Instability and Aggressive Clinical Biology of Esophageal Adenocarcinoma		168461		CDC	2007	Our data suggest that CD1 A870 background may be imparting aggressive phenotype to EAC.											
145124		colorectal cancer	CANCER	CAN	Rectal Neoplasms|Neoplasm Recurrence, Local	11	11q13	CCND1	69165053	69178423		Ho-Pun-Cheung, A.  et al. 2007	17398034				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Int J Radiat Oncol Biol Phys    2007	Cyclin D1 gene G870A polymorphism predicts response to neoadjuvant radiotherapy and prognosis in rectal cancer		168461		CDC	2007	Although CCND1 exon 5 mutations are rare in rectal cancer, G870A polymorphism is a frequent variation that may predict radiosensitivity and prognosis.		radiation									
145125	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Gayther, S. A et al.  et al. 2007	17409409				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		168461		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145126	Y	stomach cancer	CANCER	CAN	Intestinal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Song, J. H.  et al. 2007	17447856				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2		Korea	CDC GDP info	595	Hs.523852			Neoplasma    2007    54(3)    235-9	Association of cyclin D1 G870A polymorphism with susceptibility to gastric cancers in Korean male patients		168461		CDC	2007												
145127	N	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Jain, M.  et al. 2007	17561354				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Cancer Detect Prev    2007	Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer		168461		CDC	2007												
145129	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	12	12p13	CCND2	4253198	4284777		Gayther, S. A et al.  et al. 2007	17409409				Cyclin D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001759			CDC GDP info	894	Hs.376071			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		123833		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145130	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	6	6p21	CCND3	42010648	42124404		Gayther, S. A et al.  et al. 2007	17409409				Cyclin D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL833425			CDC GDP info	896	Hs.534307			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		123834		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145131	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	19	19q12	CCNE1	34994740	35007059		Gayther, S. A et al.  et al. 2007	17409409				Cyclin E1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035498			CDC GDP info	898	Hs.244723			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer				CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145133		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	5	5q13.3-q14	CCNH	86723066	86744592		Wang, Y.  et al. 2007	17575242				Cyclin H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001239.2			CDC GDP info	902	Hs.292524			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		601953		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
145134		cedar pollinosis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	3	3p21	CCR1	46218203	46224836		Nakamura, H.  et al. 2006	17135764				Chemokine (C-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001295.2			CDC GDP info	1230	Hs.301921			Int Arch Allergy Immunol    2006    142(4)    329-334	Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis		601159		CDC	2006												
145135		HIV	INFECTION	INF	HIV Infections|Hemophilia A|Disease Progression	3	3p21	CCR2	46370363	46377429			16206074				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			J Infect Dis    2005    192(9)    1597-605	Stromal cell-derived factor-1 genotype, coreceptor tropism, and HIV type 1 disease progression		601267		CDC	2005												
145136		sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	3	3p21	CCR2	46370363	46377429			16305685				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Brazilian	Brazil	CDC GDP info	1231	Hs.644637			Tissue Antigens    2005    66(6)    683-90	Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease		601267		CDC	2005												
145138	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR2	46370363	46377429		Zhang, M.  et al. 2006	16461193				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Am J Hypertens    2006    19(1)    67-72	Genetic variations in CC chemokine receptors and hypertension		601267		CDC	2006	The results of the present study, which is much larger than previously published studies, provide no evidence that either CCR5-Delta32 or CCR2-64I is associated with hypertension.											
145139		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Puissant, B.  et al. 2006	16478397				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			AIDS Res Hum Retroviruses    2006    22(2)    153-62	Analysis of CCR5, CCR2, CX(3)CR1, and SDF1 Polymorphisms in HIV-Positive Treated Patients		601267		CDC	2006			antiretroviral									
145140	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Genetic Predisposition to Disease|Inflammation	3	3p21	CCR2	46370363	46377429		Apostolakis, S.  et al. 2006	16480760				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Thromb Res    2006	Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease		601267		CDC	2006	The study confers additional data in the field of genetic predisposition to CAD: it confirms the atheroprotective effect of the M280 variant in a completely different population and supports the role of the fractalkine-CX3CR1 pathway in atherosclerosis.											
145141		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Paz-y-Mino, C.  et al. 2005	16485782				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Hum Biol    2005    77(4)    521-6	CCR5delta32, CCR2-64I, and SDF1-3'A polymorphisms related to resistance to HIV-1 infection and disease in the Ecuadorian population		601267		CDC	2005												
145142		pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis	3	3p21	CCR2	46370363	46377429			16524739				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Cytokine    2006	Polymorphisms in chemokine and chemokine receptor genes and the development of coal workers' pneumoconiosis		601267		CDC	2006												
145143		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429			16529059				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Polish	Poland	CDC GDP info	1231	Hs.644637			Wiad Lek    2005    58(9-10)    500-7	Effects of CCR5-delta32, CCR2-64I and SDF-1-3'A polymorphic alleles on human immunodeficiency virus 1 (HIV-1) infection in the Polish population		601267		CDC	2005												
145144		kidney transplant	RENAL	REN		3	3p21	CCR2	46370363	46377429		Yigit, B.  et al. 2006	16598837				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Turkish		CDC GDP info	1231	Hs.644637			Cell Biochem Funct    2006	Analysis of CC chemokine receptor 5 and 2 polymorphisms and renal transplant survival		601267		CDC	2006												
145145		morbidity mortality	IMMUNE	IMM	Inflammation	3	3p21	CCR2	46370363	46377429		Ortlepp, J. R.  et al. 2006	16858645				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Inflammation    2006	Relationship of Five Inflammatory Gene Polymorphisms with Morbidity and Mortality in 533 Patients Admitted to an ICU		601267		CDC	2006	Genotyping of the investigated polymorphism for risk stratification of patients admitted to ICU does not seem to be appropriated.											
145146		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Suresh, P.  et al. 2006	16865553				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			J Clin Immunol    2006	Gene Polymorphisms in CCR5, CCR2, CX3CR1, SDF-1 and RANTES in Exposed but Uninfected Partners of HIV-1 Infected Individuals in North India		601267		CDC	2006												
145148		uveitis	VISION	VIS	Uveitis, Anterior|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Yeo, T. K.  et al. 2006	16950632				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian		CDC GDP info	1231	Hs.644637			Cytokine    2006	Chemokine gene polymorphisms in idiopathic anterior uveitis		601267		CDC	2006	This study describes an association between acute anterior uveitis and MCP-1 63555 polymorphisms where the T allele may be a protective marker against the disease.											
145149		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR2	46370363	46377429		Mettimano, M.  et al. 2006	17060059				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Clin Exp Hypertens    2006    28(7)    611-8	Blood pressure regulation by CCR genes		601267		CDC	2006												
145150	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Vilades, C.  et al. 2006	17091019				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			J Acquir Immune Defic Syndr    2006	Effect of Genetic Variants of CCR2 and CCL2 on the Natural History of HIV-1 Infection		601267		CDC	2006	In our cohort of white Spaniards, homozygosity for the variant CCL2-2518GG genotype is overrepresented in HIV-1-infected subjects.											
145151		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	3	3p21	CCR2	46370363	46377429		Zheng, B.  et al. 2006	17094383				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Anticancer Res    2006    26(5B)    3669-74	Genetic polymorphism of chemokine receptors CCR2 and CCR5 in Swedish cervical cancer patients		601267		CDC	2006			human papillomavirus									
145152		cedar pollinosis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	3	3p21	CCR2	46370363	46377429		Nakamura, H.  et al. 2006	17135764				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Int Arch Allergy Immunol    2006    142(4)    329-334	Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis		601267		CDC	2006												
145154			CANCER	CAN	Neoplasms|Inflammation	3	3p21	CCR2	46370363	46377429		Huang, H. Y.  et al. 2007	17355643				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	African American;Caucasian		CDC GDP info	1231	Hs.644637			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		601267		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
145155		encephalopathy HIV neurodevelopment	NEUROLOGICAL	NEUR	AIDS Dementia Complex|Genetic Predisposition to Disease|Developmental Disabilities	3	3p21	CCR2	46370363	46377429		Llorente, A.  et al. 2006	17361671				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Appl Neuropsychol    2006    13(3)    180-9	Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection		601267		CDC	2006												
145156	N	liver cancer liver disease	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Nahon, P.  et al. 2007	17413295				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Eur J Gastroenterol Hepatol    2007    19(5)    425-31	Lack of association of some chemokine system polymorphisms with the risks of death and hepatocellular carcinoma occurrence in patients with alcoholic cirrhosis		601267		CDC	2007	The present study suggests the lack of association of SDF-1 3\A, MCP-1(-2518), CCR5-Delta32 and CCR2-64I polymorphisms with death and hepatocellular carcinoma occurrence in cirrhotic alcoholic patients.											
145157		uveitis	VISION	VIS	Ocular Hypertension|Uveitis, Posterior|Immune System Diseases|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Ahad, M. A.  et al. 2007	17417600				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Caucasian		CDC GDP info	1231	Hs.644637			Mol Vis    2007    13    388-96	Polymorphisms of chemokine and chemokine receptor genes in idiopathic immune-mediated posterior segment uveitis		601267		CDC	2007	Though the utility for prediction of disease susceptibility of the studied polymorphisms in chemokine genes is in general not robust, we have found that polymorphisms in chemokine genes can influence the outcome of patients with idiopathic immune-mediated posterior segment uveitis. These associations require further analysis in other groups of patients.											
145159	N	hepatitis C	INFECTION	INF	Hepatitis C	3	3p21	CCR2	46370363	46377429		Montes-Cano, M. A.  et al. 2007	17465499				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			World J Gastroenterol    2007    13(15)    2187-92	CCL2-2518 A/G and CCR2 190 A/G do not influence the outcome of hepatitis C virus infection in the Spanish population		601267		CDC	2007	Our results indicate that the mutations studied in the gene pair CCL2/CCR2 do not play a major role in the outcome and response to treatment for HCV infection in the Spanish population.											
145160	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Cha, S. H.  et al. 2007	17482150				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Korean		CDC GDP info	1231	Hs.644637			Clin Chim Acta    2007	Association of CCR2 polymorphisms with the number of closed coronary artery vessels in coronary artery disease		601267		CDC	2007												
145161		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR2	46370363	46377429		Kaur, G.  et al. 2007	17504503				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Indian		CDC GDP info	1231	Hs.644637			Int J Immunogenet    2007    34(3)    153-6	Distribution of CCR2 polymorphism in HIV-1-infected and healthy subjects in North India		601267		CDC	2007												
145162		HIV leukoencephalopathy	INFECTION	INF		3	3p21	CCR2	46370363	46377429		Guerini, F. R.  et al. 2007	17560067				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Biomed Pharmacother    2007	Analysis of CCR5, CCR2, SDF1 and RANTES gene polymorphisms in subjects with HIV-related PML and not determined leukoencephalopathy		601267		CDC	2007												
145163	N	cirrhosis hepatitis B, chronic	INFECTION	INF	Hepatitis B|Disease Progression	3	3p21	CCR2	46370363	46377429		Cheong, J. Y.  et al. 2007	17596666				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Korean		CDC GDP info	1231	Hs.644637			J Korean Med Sci    2007    22(3)    529-35	RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection		601267		CDC	2007												
145164		HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR2	46370363	46377429		Choi, B. S.  et al. 2007	17604544				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			AIDS Res Hum Retroviruses    2007    23(6)    805-11	CCR2b-64I Allelic Polymorphisms in Advanced HIV-Infected Koreans Accelerate Disease Progression		601267		CDC	2007												
145165		cholesterol, HDL	METABOLIC	MET		3	3p21	CCR2	46370363	46377429		Heidema, A. G.  et al. 2007	17615573				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			Genet Epidemiol    2007	Analysis of multiple SNPs in genetic association studies		601267		CDC	2007	the application of a combination of multi-locus methods is a useful approach in genetic association studies to select a well-defined set of important SNPs for further statistical and epidemiological interpretation, providing increased confidence and more information compared with the application of only one method. Genet. Epidemiol. 2007. (c) 2007 Wiley-Liss, Inc.											
145166		cedar pollinosis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	3	3p21.3	CCR3	46180099	46283166		Nakamura, H.  et al. 2006	17135764				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2			CDC GDP info	1232	Hs.506190			Int Arch Allergy Immunol    2006    142(4)    329-334	Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis		601268		CDC	2006												
145167		menarche	REPRODUCTION	REP		3	3p21.3	CCR3	46180099	46283166		Yang, F.  et al. 2006	17146638				Chemokine (C-C motif) receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001837.2	Caucasian		CDC GDP info	1232	Hs.506190			Hum Genet    2006	The chemokine (C-C-motif) receptor 3 (CCR3) gene is linked and associated with age at menarche in Caucasian females		601268		CDC	2006												
145169		HIV	INFECTION	INF	HIV Infections|Hemophilia A|Disease Progression	3	3p21	CCR5	46387429	46392701			16206074				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			J Infect Dis    2005    192(9)    1597-605	Stromal cell-derived factor-1 genotype, coreceptor tropism, and HIV type 1 disease progression		601373		CDC	2005												
145170		sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	3	3p21	CCR5	46387429	46392701			16305685				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Brazilian	Brazil	CDC GDP info	1234	Hs.450802			Tissue Antigens    2005    66(6)    683-90	Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease		601373		CDC	2005												
145171	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Mokubo, A.  et al. 2006	16442182	CCR5  promoter polymorphism 59029A/G		promoter	Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Diabetes Res Clin Pract    2006	Chemotactic cytokine receptor 5 (CCR5) gene promoter polymorphism (59029A/G) is associated with diabetic nephropathy in Japanese patients with type 2 diabetes		601373		CDC	2006												
145173		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Puissant, B.  et al. 2006	16478397				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			AIDS Res Hum Retroviruses    2006    22(2)    153-62	Analysis of CCR5, CCR2, CX(3)CR1, and SDF1 Polymorphisms in HIV-Positive Treated Patients		601373		CDC	2006			antiretroviral									
145174	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Genetic Predisposition to Disease|Inflammation	3	3p21	CCR5	46387429	46392701		Apostolakis, S.  et al. 2006	16480760				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Thromb Res    2006	Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease		601373		CDC	2006	The study confers additional data in the field of genetic predisposition to CAD: it confirms the atheroprotective effect of the M280 variant in a completely different population and supports the role of the fractalkine-CX3CR1 pathway in atherosclerosis.											
145176	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Wohlfahrt, J. C.  et al. 2006	16512757				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		601373		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
145177		pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis	3	3p21	CCR5	46387429	46392701			16524739				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Cytokine    2006	Polymorphisms in chemokine and chemokine receptor genes and the development of coal workers' pneumoconiosis		601373		CDC	2006												
145178		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701			16529059				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Polish	Poland	CDC GDP info	1234	Hs.450802			Wiad Lek    2005    58(9-10)    500-7	Effects of CCR5-delta32, CCR2-64I and SDF-1-3'A polymorphic alleles on human immunodeficiency virus 1 (HIV-1) infection in the Polish population		601373		CDC	2005												
145179		kidney transplant	RENAL	REN		3	3p21	CCR5	46387429	46392701		Yigit, B.  et al. 2006	16598837				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Turkish		CDC GDP info	1234	Hs.450802			Cell Biochem Funct    2006	Analysis of CC chemokine receptor 5 and 2 polymorphisms and renal transplant survival		601373		CDC	2006												
145180		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Genetic Predisposition to Disease|Inflammation	3	3p21	CCR5	46387429	46392701		Duell, E. J.  et al. 2006	16614115				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1		San Francisco	CDC GDP info	1234	Hs.450802			Cancer Epidemiol Biomarkers Prev    2006    15(4)    726-31	Inflammation, Genetic Polymorphisms in Proinflammatory Genes TNF-A, RANTES, and CCR5, and Risk of Pancreatic Adenocarcinoma		601373		CDC	2006			smoking (tobacco)									
145182		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Favorova, O. O.  et al. 2006	16872485				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Russian		CDC GDP info	1234	Hs.450802			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		601373		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
145183		HIV	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Trecarichi, E. M.  et al. 2006	16999868				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Italian		CDC GDP info	1234	Hs.450802			AIDS Res Ther    2006    3(1)    22	Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian HIV-1 exposed uninfected individuals		601373		CDC	2006	our data show a significantly higher frequency of CCR5-Delta 32 heterozygous genotype (p = 0.04) among the Italian heterosexual ESN individuals compared to HIV-1 seropositive patients, suggesting a partial protective role of CCR5-Delta 32 heterozygosity in this cohort.											
145184		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR5	46387429	46392701		Mettimano, M.  et al. 2006	17060059				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Clin Exp Hypertens    2006    28(7)    611-8	Blood pressure regulation by CCR genes		601373		CDC	2006												
145185	Y	hepatitis B	INFECTION	INF	Hepatitis B	3	3p21	CCR5	46387429	46392701		Ahn, S. H.  et al. 2006	17063508				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Korean		CDC GDP info	1234	Hs.450802			J Med Virol    2006    78(12)    1564-1571	Association of genetic variations in CCR5 and its ligand, RANTES with clearance of hepatitis B virus in Korea		601373		CDC	2006												
145186	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	3	3p21	CCR5	46387429	46392701		Vilades, C.  et al. 2006	17091019				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			J Acquir Immune Defic Syndr    2006	Effect of Genetic Variants of CCR2 and CCL2 on the Natural History of HIV-1 Infection		601373		CDC	2006	In our cohort of white Spaniards, homozygosity for the variant CCL2-2518GG genotype is overrepresented in HIV-1-infected subjects.											
145187		cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	3	3p21	CCR5	46387429	46392701		Zheng, B.  et al. 2006	17094383				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Anticancer Res    2006    26(5B)    3669-74	Genetic polymorphism of chemokine receptors CCR2 and CCR5 in Swedish cervical cancer patients		601373		CDC	2006			human papillomavirus									
145188		cedar pollinosis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	3	3p21	CCR5	46387429	46392701		Nakamura, H.  et al. 2006	17135764				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Int Arch Allergy Immunol    2006    142(4)    329-334	Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis		601373		CDC	2006												
145189	Y	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Disease Susceptibility	3	3p21	CCR5	46387429	46392701		Gabutero, E.  et al. 2007	17148969				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			AIDS    2007    21(1)    65-69	Interaction between allelic variation in IL12B and CCR5 affects the development of AIDS		601373		CDC	2007	Epistatic interaction between allelic variants of CCR5 and IL12Bpro exert a significant influence on the clinical outcome of HIV-1 infection.											
145190		stromal derived factor	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Verma, R.  et al. 2007	17240189				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Indian;Asian		CDC GDP info	1234	Hs.450802			J Clin Virol    2007	Distribution of CCR5Delta32, CCR2-64I and SDF1-3'A and plasma levels of SDF-1 in HIV-1 seronegative North Indians		601373		CDC	2007												
145192			CANCER	CAN	Neoplasms|Inflammation	3	3p21	CCR5	46387429	46392701		Huang, H. Y.  et al. 2007	17355643				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	African American;Caucasian		CDC GDP info	1234	Hs.450802			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		601373		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
145193		encephalopathy HIV neurodevelopment	NEUROLOGICAL	NEUR	AIDS Dementia Complex|Genetic Predisposition to Disease|Developmental Disabilities	3	3p21	CCR5	46387429	46392701		Llorente, A.  et al. 2006	17361671				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Appl Neuropsychol    2006    13(3)    180-9	Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection		601373		CDC	2006												
145194	N	liver cancer liver disease	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Nahon, P.  et al. 2007	17413295				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Eur J Gastroenterol Hepatol    2007    19(5)    425-31	Lack of association of some chemokine system polymorphisms with the risks of death and hepatocellular carcinoma occurrence in patients with alcoholic cirrhosis		601373		CDC	2007	The present study suggests the lack of association of SDF-1 3\A, MCP-1(-2518), CCR5-Delta32 and CCR2-64I polymorphisms with death and hepatocellular carcinoma occurrence in cirrhotic alcoholic patients.											
145195		uveitis	VISION	VIS	Ocular Hypertension|Uveitis, Posterior|Immune System Diseases|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Ahad, M. A.  et al. 2007	17417600				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian		CDC GDP info	1234	Hs.450802			Mol Vis    2007    13    388-96	Polymorphisms of chemokine and chemokine receptor genes in idiopathic immune-mediated posterior segment uveitis		601373		CDC	2007	Though the utility for prediction of disease susceptibility of the studied polymorphisms in chemokine genes is in general not robust, we have found that polymorphisms in chemokine genes can influence the outcome of patients with idiopathic immune-mediated posterior segment uveitis. These associations require further analysis in other groups of patients.											
145196	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Prasad, P.  et al. 2007	17428349	59029A of CCR5			Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Japanese;Indian;Asian		CDC GDP info	1234	Hs.450802			BMC Med Genet    2007    8(1)    20	Association of TGFB1, TNFa, CCR2 and CCR5 gene polymorphisms in chronic renal insufficiency among Asian Indians with type-2 diabetes		601373		CDC	2007	Of the various cytokine gene polymorphisms tested, allele 59029A of CCR5 gene is significantly associated with diabetic renal insufficiency among Asian Indians.											
145198	N	cirrhosis hepatitis B, chronic	INFECTION	INF	Hepatitis B|Disease Progression	3	3p21	CCR5	46387429	46392701		Cheong, J. Y.  et al. 2007	17596666				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Korean		CDC GDP info	1234	Hs.450802			J Korean Med Sci    2007    22(3)    529-35	RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection		601373		CDC	2007												
145199		diabetes, type 1 rheumatoid arthritis	IMMUNE	IMM		3	3p21	CCR5	46387429	46392701		McKinney, C.  et al. 2007	17604289				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1	Caucasian;New Zealand		CDC GDP info	1234	Hs.450802			Ann Rheum Dis    2007	Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis		601373		CDC	2007	These data suggest that increased CCL3L1 expression may enhance inflammatory responses and increase the chance of autoimmune disease.											
145200	N	lupus erythematosus sclerosis, systemic Sjogren's syndrome	IMMUNE	IMM		17	17q12-q21.2	CCR7	35963547	35975250		Kahlmann, D.  et al. 2007	17587445				Chemokine (C-C motif) receptor 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001838	German		CDC GDP info	1236	Hs.370036			BMC Genet    2007    8(1)    33	Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis				CDC	2007	These results suggest that variants of CCR7 gene occur at an extremely low frequency in the German population and that neither Sjogren\s syndrome, systemic lupus erythematosus, nor systemic sclerosis are associated with these variants. Nevertheless, the decreased luciferase activity observed in cells transfected with the promoter region bearing the -60 C/T m											
145201	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5q22-q32	CD14	139991500	139993439		Lin, J. J.  et al. 2006	16337421				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Parkinsonism Relat Disord    2006    12(1)    9-13	A CD14 monocyte receptor polymorphism and genetic susceptibility to Parkinson's disease for females		158120		CDC	2006	results of this study indicate the pCD14 polymorphism to be a genetic risk factor for PD in females.											
145202	Y	body mass diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q22-q32	CD14	139991500	139993439			16409569			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Korean		CDC GDP info	929	Hs.163867			Diabet Med    2006    23(1)    72-6	Common promoter polymorphism in monocyte differentiation antigen CD14 is associated with serum triglyceride levels and body mass index in non-diabetic individuals		158120		CDC	2006	Our data suggest that lipid metabolism and obesity, important pathophysiological elements of T2DM and the metabolic syndrome, are regulated by complex mechanisms that include the CD14 gene polymorphism-mediated genetic propensity to non-specific inflammatory responses.											
145203	Y	premature rupture of membranes	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Premature Birth|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439			16427140				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Reprod Immunol    2006	Association of a maternal CD14 -159 gene polymorphism with preterm premature rupture of membranes and spontaneous preterm birth in multi-fetal pregnancies		158120		CDC	2006												
145204	Y	IgE	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q22-q32	CD14	139991500	139993439		Campos, J.  et al. 2006	16433727	CD14/-159C/T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Alcohol Clin Exp Res    2006    30(1)    7-14	Gene by Environment Interaction		158120		CDC	2006	The CD14/-159C/T polymorphism modifies the effect of alcohol consumption on serum IgE levels.		alcohol									
145205	N	pouchitis	OTHER	OTH	Pouchitis|Chronic Disease|Recurrence	5	5q22-q32	CD14	139991500	139993439		Lammers, K.  et al. 2005	16437636				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian;Italian		CDC GDP info	929	Hs.163867			World J Gastroenterol    2005    11(46)    7323-9	Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis		158120		CDC	2005	There is no evidence that the SNPs predispose to the need for IPAA surgery.											
145207	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		de la Fontaine, L.  et al. 2006	16467036				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian		CDC GDP info	929	Hs.163867			Scand J Rheumatol    2006    35(1)    20-2	Lack of association of the CD14/C-159T polymorphism with susceptibility and serological activity parameters of rheumatoid arthritis		158120		CDC	2006	We found no association between the CD14/C-159T polymorphism and increased risk for the development of RA or serological disease activity parameters or sCD14 levels.											
145208		organ failure sepsis	INFECTION	INF	Sepsis|Critical Illness|Multiple Organ Failure	5	5q22-q32	CD14	139991500	139993439		D'Avila, L. C.  et al. 2006	16509825				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Brazilian		CDC GDP info	929	Hs.163867			Immunol Cell Biol    2006	Effect of CD14 -260C>T polymorphism on the mortality of critically ill patients		158120		CDC	2006												
145210	P	atopy	IMMUNE	IMM	Dermatitis, Atopic	5	5q22-q32	CD14	139991500	139993439			16538169			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Singapore	Singapore|China	CDC GDP info	929	Hs.163867			Pharmacogenet Genomics    2006    16(4)    229-36	CD14 promoter polymorphisms have no functional significance and are not associated with atopic phenotypes		158120		CDC	2006	This study confirms three reported SNPs and one novel SNP in the CD14 promoter in our local population.											
145211	Y	sepsis	INFECTION	INF	Sepsis	5	5q22-q32	CD14	139991500	139993439		Baier, R. J.  et al. 2006	16611358				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian		CDC GDP info	929	Hs.163867			BMC Med    2006    4(1)    10	IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated Very Low Birth Weight infants		158120		CDC	2006	The IL-6 -174 G/C, IL-10 -1082 G/A and CD14 -260 C/T SNPs may alter risk for BSI in ventilated VLBW infants.											
145212	Y	allergy dermatitis and eczema	IMMUNE	IMM	Asthma|Eczema|Genetic Predisposition to Disease|Respiratory Sounds	5	5q22-q32	CD14	139991500	139993439		Simpson, A.  et al. 2006	16614348		CD 14 -159		CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Am J Respir Crit Care Med    2006	Endotoxin Exposure, CD14 and Allergic Disease		158120		CDC	2006	Increasing endotoxin exposure is associated with reduced risk of allergic sensitization and eczema but with increased risk of nonatopic wheeze in children with the CC genotype at -159 of the CD14 gene. The impact of environmental endotoxin may be enhanced in individuals with this genotype.		endotoxin									
145214		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Haidari, M.  et al. 2006	16698680			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Iranian	Iran	CDC GDP info	929	Hs.163867			Immunol Invest    2006    35(2)    239-45	Polymorphism in the Promoter Region of the CD14 Gene and Susceptibility to Brucellosis		158120		CDC	2006												
145215	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Guo, Q.  et al. 2006	16706818				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Gastroenterol Hepatol    2006    21(1 Pt 1)    92-7	Polymorphism of CD14 gene but not the mutation of TLR4 gene is associated with colorectal cancer in Chinese patients		158120		CDC	2006	These findings indicated that the polymorphism of CD14 but not TLR4 Asp299Gly mutation was associated with Chinese patients with colorectal cancer, and the CD14 gene may contribute to the predisposition to colorectal cancer.											
145217		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Intracranial Arteriosclerosis|Genetic Predisposition to Disease|Inflammation	5	5q22-q32	CD14	139991500	139993439		Markus, H. S.  et al. 2006	16873708				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Stroke    2006    37(9)    2253-9	Genetic and acquired inflammatory conditions are synergistically associated with early carotid atherosclerosis		158120		CDC	2006	were similar for femoral artery IMT.		smoking (tobacco)									
145218	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	5	5q22-q32	CD14	139991500	139993439		Lalouschek, W.  et al. 2006	16879054				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Clin Chem Lab Med    2006    44(8)    918-23	Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events		158120		CDC	2006	In our study none of the investigated polymorphisms of the inflammatory system was associated with the risk of acute cerebrovascular events before the age of 60 years.		febrile episode									
145219	Y	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis|Peripheral Vascular Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Vainas, T.  et al. 2006	16890863	CD14 TT			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Vasc Surg    2006    44(2)    326-32	Synergistic effect of Toll-like receptor 4 and CD14 polymorphisms on the total atherosclerosis burden in patients with peripheral arterial disease		158120		CDC	2006	The carrier trait TLR4 G allele/CD14 TT genotype, rather than each SNP individually, is associated with$$$ the extent of clinically relevant atherosclerotic disease. Considering the importance of immune responses in atherogenesis and the genetic variation of immune regulatory genes, our data provide an explanation for interindividual differences in susceptibility to atherosclerosis and demonstrate the need to take a wider approach in analyzing relevant carrier traits instead of individual polymorphisms in relation to atherosclerosis.			CD14	CD14 TT	TLR4	TLR4 G					
145220	Y	otitis media	OTHER	OTH	Otitis Media|Genetic Predisposition to Disease|Recurrence	5	5q22-q32	CD14	139991500	139993439		Wiertsema, S. P.  et al. 2006	16893989			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Clin Vaccine Immunol    2006    13(8)    892-7	Association of CD14 Promoter Polymorphism with Otitis Media and Pneumococcal Vaccine Responses		158120		CDC	2006												
145221		rheumatoid arthritis schizophrenia	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease|Schizophrenia	5	5q22-q32	CD14	139991500	139993439		de la Fontaine, L.  et al. 2006	16916546				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian		CDC GDP info	929	Hs.163867			Psychiatry Res    2006	Investigating disease susceptibility and the negative correlation of schizophrenia and rheumatoid arthritis focusing on MIF and CD14 gene polymorphisms		158120		CDC	2006												
145222	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	5	5q22-q32	CD14	139991500	139993439		Gazouli, M.  et al. 2006	16933467				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2		Greece	CDC GDP info	929	Hs.163867			Sarcoidosis Vasc Diffuse Lung Dis    2006    23(1)    23-9	CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis		158120		CDC	2006	Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT genotype of the CD14 promoter are associated with increased susceptibility for developing sarcoidosis.											
145224	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Kang, H. J.  et al. 2006	16950521	CD14/-159			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Korean	Korea	CDC GDP info	929	Hs.163867			Int J Pediatr Otorhinolaryngol    2006	Polymorphism of the CD14 gene in perennial allergic rhinitis		158120		CDC	2006	The results from the present study suggest that CD14/-159 polymorphism may play a role in the development of perennial allergic rhinitis in Korean children.											
145225		allergic disease, IgE -mediated	IMMUNE	IMM	Hypersensitivity|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439		Buckova, D.  et al. 2006	17003960				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Hum Genet    2006	Polymorphisms of the CD14 gene and atopic phenotypes in Czech patients with IgE-mediated allergy		158120		CDC	2006												
145226	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Mohammad Alizadeh, A. H.  et al. 2006	17007028	CD14  TT heterozygous genotype		promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			World J Gastroenterol    2006    12(35)    5717-20	Association of promoter polymorphism of the CD14 C (-159) T endotoxin receptor gene with chronic hepatitis B		158120		CDC	2006	The TT heterozygous genotype was not a risk factor for chronic hepatitis B.											
145228		C-reactive protein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Bernardo, E.  et al. 2006	17056323			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Am J Cardiol    2006    98(9)    1182-1184	Influence of the CD14 C260T Promoter Polymorphism on C-Reactive Protein Levels in Patients With Coronary Artery Disease		158120		CDC	2006	these observations may support the findings in large-scale studies that T homozygotes of this functional polymorphism are at increased ischemic risk.											
145229	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	5	5q22-q32	CD14	139991500	139993439		Landi, S.  et al. 2006	17062130				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		158120		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
145230	Y	sepsis	INFECTION	INF	Sepsis|Burns|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Lin, J.  et al. 2006	17067484	CD14C-159T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Zhonghua Wai Ke Za Zhi    2006    44(13)    907-10	The influence of CD14 genomic polymorphism on CD14 gene expression as well as protein release and its clinical significance in patients with extensive burns.		158120		CDC	2006	CD14C-159T polymorphism might markedly influence CD14 mRNA expression and sCD14 levels, and it seems to be associated with sepsis susceptibility and prognosis in patients with extensive burns. The T allele could be a genetic risk marker of adverse prognosis.											
145231	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Nishimura, F.  et al. 2006	17075287				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Allergol Int    2006    55(1)    55-8	Failure to Find an Association between CD14-159C/T Polymorphism and Asthma		158120		CDC	2006	Our data indicate that CD14 does not contribute substantially to susceptibility to asthma.											
145233		atherosclerosis, coronary	CARDIOVASCULAR	CARD		5	5q22-q32	CD14	139991500	139993439		Porsch-Ozcurumez, M.  et al. 2006	17087609			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Physiol Res    2006	A post-hoc analysis on the CD14 C(-260)T promoter polymorphism and coronary heart disease		158120		CDC	2006												
145234	Y	atherosclerosis, generalized cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Carotid Stenosis|Atherosclerosis	5	5q22-q32	CD14	139991500	139993439		Giacconi, R.  et al. 2006	17098305	CD14 C-260T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	European;Italian		CDC GDP info	929	Hs.163867			Int J Cardiol    2006	CD14 C (-260)T polymorphism, atherosclerosis, elderly		158120		CDC	2006	These data provide insight into the pathogenetic role of the CD14 C-260T polymorphism in atherosclerosis as -260TT genotype may favour increased inflammation in atheroma promoting possible worsening atherosclerosis, at least in Central of Italy elderly population. Further studies are in progress in cohorts from different European geographic area (Zincage project).											
145236	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	5	5q22-q32	CD14	139991500	139993439		Hong, S. J.  et al. 2006	17196641				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Korean		CDC GDP info	929	Hs.163867			J Allergy Clin Immunol    2006	TNF-alpha (-308 G/A) and CD14 (-159T/C) polymorphisms in the bronchial responsiveness of Korean children with asthma		158120		CDC	2006	The TNF-alpha promoter polymorphism (-308G/A) might be associated with severe BHR in Korean children with asthma. In addition, these children show a synergistic effect between the TNF-alpha promoter (-308A) and CD14 promoter (-159C) polymorphisms in terms of BHR. CLINICAL IMPLICATIONS: The TNF-alpha polymorphism might be a disease-modifying gene in asthma an											
145237		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Bernstein, D. I.  et al. 2006	17201240				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Ann Allergy Asthma Immunol    2006    97(6)    800-6	Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes		158120		CDC	2006	Gene-environmental interactions may contribute to the pathogenesis of DA, and gene-gene interactions may modulate this relationship.		diisocyanate									
145238	Y	sepsis	INFECTION	INF		5	5q22-q32	CD14	139991500	139993439		Leng, W. J.  et al. 2007	17207357				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Zhongguo Wei Zhong Bing Ji Jiu Yi Xue    2007    1	Association between cluster of differentiation 14 polymorphism and susceptibility of infection.		158120		CDC	2007	The differences of CD14-159 C/T genotypes of SNPs may be associated with the higher risk of susceptibility and mortality of sepsis.											
145239	N	food allergy	IMMUNE	IMM	Food Hypersensitivity|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Campos, E.  et al. 2007	17259806	CD14-159 and -550			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Allergol Int    2007    56(1)    23-27	No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population		158120		CDC	2007	The CD14-159 and -550 polymorphisms might not play a major role in the pathogenesis of food allergy in Japanese children.											
145240		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Puthothu, B.  et al. 2006	17264400				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Dis Markers    2006    22(5-6)    303-8	TLR-4 and CD14 polymorphisms in respiratory syncytial virus associated disease		158120		CDC	2006												
145242	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		James, J. A.  et al. 2007	17309585				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian;European	Great Britain	CDC GDP info	929	Hs.163867			J Clin Periodontol    2007    34(2)    111-7	Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis		158120		CDC	2007	It is concluded that in West European Caucasians, the Asp299Gly TLR4 gene polymorphism is associated with a decreased risk of AgP but not CP.											
145243	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	5	5q22-q32	CD14	139991500	139993439		Rechcinski, T.  et al. 2007	17436151				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Kardiol Pol    2007    65(3)    237-244	CD14 gene polymorphism 159C/T in a group of patients with coronary artery disease from a population with high morbidity of cardiovascular diseases		158120		CDC	2007	These data indicate that screening for CD14 159C/T polymorphism is unlikely to be a useful tool for risk assessment of MI at young age, independently of low number of risk factors, in a population with high morbidity from cardiovascular diseases.											
145245	Y	periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	5	5q22-q32	CD14	139991500	139993439		Tervonen, T.  et al. 2007	17448042				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		158120		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
145246	N	asthma atopy	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Zhang, H. L.  et al. 2007	17456337				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Zhonghua Er Ke Za Zhi    2007    45(2)    105-8	Association of CD14 gene polymorphism with atopic diseases in Chinese Han ethnic group children.		158120		CDC	2007	CD14/-159 SNP is present in Han ethnic group children in Wenzhou, and other SNP in CD14 gene was not found. TT genotype was the primary genotype in CD14/-159 SNP in the children studied. No relationship between CD14/-159 SNP and atopic disease or serum total IgE level was found.											
145247		periodontal disease	IMMUNE	IMM	Abscess|Periapical Periodontitis|Tooth Diseases|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		de Sa, A. R.  et al. 2007	17511783				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Int Endod J    2007	Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses		158120		CDC	2007	The present study suggests that genetic factors are associated with susceptibility to develop symptomatic dental abscesses.											
145248	Y	CD14 expression	IMMUNE	IMM	Communicable Diseases	5	5q22-q32	CD14	139991500	139993439		Lin, J.  et al. 2007	17515856	CD14-159 C/T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Shock    2007	EFFECTS OF CD14-159 C/T POLYMORPHISM ON CD14 EXPRESSION AND THE BALANCE BETWEEN PROINFLAMMATORY AND ANTI-INFLAMMATORY CYTOKINES IN WHOLE BLOOD CULTURE		158120		CDC	2007	CD14-159 C/T polymorphism is correlated with CD14 expression and may thus influence the balance of proinflammatory and anti-inflammatory responses in ethnic Han Chinese. These results suggest that CD14-159 C/T polymorphism might partly explain the difference in predisposition to develop complications of infectious diseases in different patients and may provide a therapeutic target for sepsis intervention strategies.											
145249	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Wang, F.  et al. 2007	17565650				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Gastroenterol Hepatol    2007    22(6)    925-9	Genetic polymorphisms of CD14 and Toll-like receptor-2 (TLR2) in patients with ulcerative colitis		158120		CDC	2007	The results suggest that existence of a mutation in the CD14 gene is associated with an increased susceptibility to developing UC, especially chronic continuous distal colitis phenotypes that develop after 20 years of age.		steroids									
145251	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	16	16p11.2	CD19	28850760	28858164		Hitomi, Y.  et al. 2007	17493148				CD19 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001770.4			CDC GDP info	930	Hs.632193			Tissue Antigens    2007    69(3)    242-9	Association of CD22 gene polymorphism with susceptibility to limited cutaneous systemic sclerosis		107265		CDC	2007												
145252		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Campylobacter Infections|Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q22-q23	CD1A	156490550	156494682		Caporale, C. M.  et al. 2006	16820217				CD1a antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001763.1			CDC GDP info	909	Hs.1309			J Neuroimmunol    2006	Susceptibility to Guillain-Barre syndrome is associated to polymorphisms of CD1 genes		188370		CDC	2006												
145253		polyneuropathy vasculitis	IMMUNE	IMM	Polyradiculoneuropathy|Polyradiculoneuropathy, Chronic Inflammatory Demyelinating|Genetic Predisposition to Disease	1	1q22-q23	CD1A	156490550	156494682		De Angelis, M. V.  et al. 2007	17428545				CD1a antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001763.1			CDC GDP info	909	Hs.1309			J Neuroimmunol    2007	Polymorphisms of CD1 genes in chronic dysimmune neuropathies		188370		CDC	2007												
145254		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Campylobacter Infections|Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q22-q23	CD1D	156416360	156422840		Caporale, C. M.  et al. 2006	16820217				CD1D antigen, d polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001766.2			CDC GDP info	912	Hs.1799			J Neuroimmunol    2006	Susceptibility to Guillain-Barre syndrome is associated to polymorphisms of CD1 genes		188410		CDC	2006												
145255		Guillain-Barre syndrome	NEUROLOGICAL	NEUR	Campylobacter Infections|Guillain-Barre Syndrome|Genetic Predisposition to Disease	1	1q22-q23	CD1E	156590163	156593967		Caporale, C. M.  et al. 2006	16820217				CD1E antigen, e polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030893.1			CDC GDP info	913	Hs.249217			J Neuroimmunol    2006	Susceptibility to Guillain-Barre syndrome is associated to polymorphisms of CD1 genes		188411		CDC	2006												
145256		polyneuropathy vasculitis	IMMUNE	IMM	Polyradiculoneuropathy|Polyradiculoneuropathy, Chronic Inflammatory Demyelinating|Genetic Predisposition to Disease	1	1q22-q23	CD1E	156590163	156593967		De Angelis, M. V.  et al. 2007	17428545				CD1E antigen, e polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030893.1			CDC GDP info	913	Hs.249217			J Neuroimmunol    2007	Polymorphisms of CD1 genes in chronic dysimmune neuropathies		188411		CDC	2007												
145257		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13	CD209	7710881	7718406		Nunez, C.  et al. 2006	16865785			promoter	CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2		Spain	CDC GDP info	30835	Hs.278694			World J Gastroenterol    2006    12(27)    4397-400	A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population		604672		CDC	2006	The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 (-) patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.											
145259			NORMALVARIATION	NV	Disease Susceptibility	19	19p13	CD209	7710881	7718406		Boily-Larouche, G.  et al. 2007	17509452				CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2	Canadian;Caucasian		CDC GDP info	30835	Hs.278694			Hum Immunol    2007    68(6)    523-530	DC-SIGN and DC-SIGNR genetic diversity among different ethnic populations		604672		CDC	2007												
145260		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	19	19p13	CD209	7710881	7718406		Wichukchinda, N.  et al. 2007	17530994				CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2		Thailand	CDC GDP info	30835	Hs.278694			AIDS Res Hum Retroviruses    2007    23(5)    686-692	The Polymorphisms in DC-SIGNR Affect Susceptibility to HIV Type 1 Infection		604672		CDC	2007												
145261		HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Hemophilia A|Disease Progression	19	19p13	CD209	7710881	7718406		Koizumi, Y.  et al. 2007	17530998				CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2			CDC GDP info	30835	Hs.278694			AIDS Res Hum Retroviruses    2007    23(5)    713-719	RANTES -28G Delays and DC-SIGN - 139C Enhances AIDS Progression in HIV Type 1-Infected Japanese Hemophiliacs		604672		CDC	2007												
145262		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	19	19p13	CD209	7710881	7718406		Olesen, R.  et al. 2007	17611589				CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2			CDC GDP info	30835	Hs.278694			Genes Immun    2007	DC-SIGN (CD209), pentraxin 3 and vitamin D receptor gene variants associate with pulmonary tuberculosis risk in West Africans		604672		CDC	2007												
145263	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	19		CD22	40511931	40530104		Hitomi, Y.  et al. 2007	17493148				CD22 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001771.1			CDC GDP info	933	Hs.643440			Tissue Antigens    2007    69(3)    242-9	Association of CD22 gene polymorphism with susceptibility to limited cutaneous systemic sclerosis		107266		CDC	2007												
145264		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis, Chronic Progressive	Y	6q21	CD24	19611913	19614093		Goris, A.  et al. 2006	16631259				CD24 antigen (small cell lung carcinoma cluster 4 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013230.2			CDC GDP info	934	Hs.375108			J Neuroimmunol    2006	CD24 Ala/Val polymorphism and multiple sclerosis		600074		CDC	2006												
145265		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	Y	6q21	CD24	19611913	19614093		Otaegui, D.  et al. 2006	16900767				CD24 antigen (small cell lung carcinoma cluster 4 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013230.2		Spain	CDC GDP info	934	Hs.375108			Mult Scler    2006    12(4)    511-4	CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population		600074		CDC	2006												
145266	Y	lupus erythematosus multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Lupus Erythematosus, Systemic|Disease Progression|Genetic Predisposition to Disease	Y	6q21	CD24	19611913	19614093		Wang, L.  et al. 2007	17411341				CD24 antigen (small cell lung carcinoma cluster 4 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013230.2			CDC GDP info	934	Hs.375108			PLoS Genet    2007    3(4)    e49	A Dinucleotide Deletion in CD24 Confers Protection against Autoimmune Diseases		600074		CDC	2007												
145268		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9p24	CD274	5440558	5458477		Ni, R.  et al. 2007	17203303				CD274 molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014143			CDC GDP info	29126	Hs.521989			Hum Genet    2007	PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children				CDC	2007	the genetic evaluation by association study demonstrated that the PD-1 gene was a predisposing gene to the development of T1D mellitus in the Japanese population.											
145269		rheumatoid arthritis	IMMUNE	IMM		9	9p24	CD274	5440558	5458477		Wang, S. C.  et al. 2007	17597384				CD274 molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014143			CDC GDP info	29126	Hs.521989			J Clin Immunol    2007	Polymorphisms of Genes for Programmed Cell Death 1 Ligands in Patients with Rheumatoid Arthritis				CDC	2007												
145271		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Gunesacar, R.  et al. 2007	17284227				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1	Turkish		CDC GDP info	940	Hs.591629			Int J Immunogenet    2007    34(1)    45-9	Analysis of CD28 and CTLA-4 gene polymorphisms in Turkish patients with Behcet's disease		186760		CDC	2007												
145272			NORMALVARIATION	NV		7	7q11.2	CD36	79836826	80144261		Hamajima, N.  et al. 2002	12164325				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1			CDC GDP info	948	Hs.120949			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		173510		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
145274	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	7	7q11.2	CD36	79836826	80144261		Corpeleijn, E.  et al. 2006	16911630			promoter	CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1	Japanese;Caucasian		CDC GDP info	948	Hs.120949			Diabet Med    2006    23(8)    907-11	Direct association of a promoter polymorphism in the CD36/FAT fatty acid transporter gene with Type 2 diabetes mellitus and insulin resistance		173510		CDC	2006	This is the first study to show a direct association of a CD36 snp with T2DM.											
145275	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1	4	4p15	CD38	15389028	15459804		Liu, L. M.  et al. 2006	16909600				CD38 antigen (p45)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001775.2			CDC GDP info	952	Hs.479214			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(4)    554-7	Clinical features and CD38 polymorphisms of latent autoimmune diabetes of adults (LADA) in Chengdu		107270		CDC	2006	This research revealed no relationship between the on-set of LADA and the CD38 polymorphism and CD38 Arg(140) Trp mutation.											
145276		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.3	CD3EAP	50601306	50605864		Vogel, U.  et al. 2006	16690207				CD3E antigen, epsilon polypeptide associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012099.1			CDC GDP info	10849	Hs.643438			Cancer Lett    2006	Gene-environment interactions between smoking and a haplotype of RAI, ASE-1 and ERCC1 polymorphisms among women in relation to risk of lung cancer in a population-based study				CDC	2006			smoking (tobacco)									
145277	N	colorectal cancer	CANCER	CAN	Adenoma|Carcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.3	CD3EAP	50601306	50605864		Skjelbred, C. F.  et al. 2006	16817948				CD3E antigen, epsilon polypeptide associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012099.1	Norwegian		CDC GDP info	10849	Hs.643438			BMC Cancer    2006    6(1)    175	Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas				CDC	2006	We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women.											
145278	N	multiple myeloma	CANCER	CAN	Multiple Myeloma	19	19q13.3	CD3EAP	50601306	50605864		Vangsted, A.  et al. 2006	17131345				CD3E antigen, epsilon polypeptide associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012099.1			CDC GDP info	10849	Hs.643438			Int J Cancer    2006	Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation				CDC	2006												
145279			NORMALVARIATION	NV		20	20q12-q13.2	CD40	44180312	44191791		Cho, S. M.  et al. 2004	15301860				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4	Japanese;Korean;Asian		CDC GDP info	958	Hs.472860			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		109535		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
145281	Y	autoimmune thyroiditis Graves' disease Hashimoto's thyroiditis	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Hashimoto Disease|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Ban, Y.  et al. 2006	16756465			5' untranslated region	CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4	Japanese;Caucasian;Korean		CDC GDP info	958	Hs.472860			Thyroid    2006    16(5)    443-6	Association of a C/T Single-Nucleotide Polymorphism in the 5' Untranslated Region of the CD40 Gene with Graves' Disease in Japanese		109535		CDC	2006	These results suggested that the CD40 gene is involved in susceptibility for GD in the Japanese.											
145282		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	20	20q12-q13.2	CD40	44180312	44191791		Buck, D.  et al. 2006	17026470				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDP info	958	Hs.472860			Tissue Antigens    2006    68(4)    335-338	Analysis of the C/T(-1)) single nucleotide polymorphism in the CD40 gene in multiple sclerosis		109535		CDC	2006												
145283	Y	asthma IgE	IMMUNE	IMM	Asthma	20	20q12-q13.2	CD40	44180312	44191791		Park, J. H.  et al. 2007	17255560				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4	Korean		CDC GDP info	958	Hs.472860			Am J Respir Crit Care Med    2007	Association Analysis of CD40 Polymorphisms with Asthma and The Level of Serum Total IgE		109535		CDC	2007	CD40 gene polymorphisms exert a genetic effect on IgE production in patients with asthma through translational regulation of CD40 expression on B cells.											
145284	Y	Graves' disease myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Graves Disease	20	20q12-q13.2	CD40	44180312	44191791		Jacobson, E. M.  et al. 2007	17344890				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDP info	958	Hs.472860			Genes Immun    2007	A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions		109535		CDC	2007												
145285	Y	acute coronary syndrome diabetes, type 2 hypertension	CARDIOVASCULAR	CARD		20	20q12-q13.2	CD40	44180312	44191791		Li, Y.  et al. 2007	17553307				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDP info	958	Hs.472860			Zhonghua Yi Xue Za Zhi    2007    87(10)    690-4	Correlation of CD40 gene polymorphisms with acute coronary syndrome, hypertension and diabetes		109535		CDC	2007	CD40-1C/T polymorphism is associated with ACS in Chinese people. The -1C allele carriers have higher risk of ACS if they get hypertension or diabetes; CD40-E4SNP may not exist in Chinese people.		body mass									
145287		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		12	12pter-p12	CD4	6768911	6800237		Comings, D. E.  et al. 2000	11140838				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3			CDC GDP info	920	Hs.631659			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		186940		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145288		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12pter-p12	CD4	6768911	6800237		Lundmark, F.  et al. 2006	17020785				CD4 antigen (p55)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000616.3		Finland|Denmark|Norway|Sweden	CDC GDP info	920	Hs.631659			J Neuroimmunol    2006	Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations		186940		CDC	2006	these genes are of minor importance in regard of genetic predisposition to the MS.											
145289		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	11	11p13	CD44	35116992	35210525		Park, J. W.  et al. 2006	16415175				CD44 antigen (homing function and Indian blood group system)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000610.3			CDC GDP info	960	Hs.502328			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		107269		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
145290		hemolytic uremic syndrome	PHARMACOGENOMIC	PHARM	Hemolytic-Uremic Syndrome|Recurrence	1	1q32	CD46	205992024	206035481		Caprioli, J.  et al. 2006	16621965				Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_002389			CDC GDP info	4179	Hs.510402			Blood    2006	Genetics of HUS		120920		CDC	2006			plasma treatment									
145292	N	diabetes, type 1	IMMUNE	IMM		1	1q32	CD55	205561487	205600470		Taniguchi, H.  et al. 2006	16626483				CD55 molecule, decay accelerating factor for complement (Cromer blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000574			CDC GDP info	1604	Hs.527653			BMC Genet    2006    7(1)    22	Discovery, linkage disequilibrium and association analyses of polymorphisms of the immune complement inhibitor, decay-accelerating factor gene (DAF/CD55) in type 1 diabetes				CDC	2006	We obtained no evidence of association between T1D and the DAF region in two independent collections.											
145294	Y	asthma atopy	IMMUNE	IMM	Melanoma|Asthma|Hypersensitivity	3	3q21	CD86	123256910	123322673		Corydon, T. J.  et al. 2007	17513529				CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3	Danish		CDC GDP info	942	Hs.171182			J Med Genet    2007	A functional CD86 polymorphism associated with asthma and related allergic disorders		601020		CDC	2007	The CD86 gene, and specifically the Ile179Val polymorphism, may be a novel aetiological factor in the development of asthma and related allergic disorders.											
145295		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		2	2p12	CD8A	86865238	86889030		Comings, D. E.  et al. 2000	11140838				CD8a molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK124156			CDC GDP info	925	Hs.85258			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		186910		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145296		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	1	1p36.2-p35	CDA	20788030	20817987		Monzo, M.  et al. 2006	16507781				Cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC048284	French		CDC GDP info	978	Hs.466910			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		123920		CDC	2006			chemotherapy									
145297		gemcitabine pharmacokinetics neutropenia	PHARMACOGENOMIC	PHARM	Neoplasms	1	1p36.2-p35	CDA	20788030	20817987		Sugiyama, E.  et al. 2007	17194903				Cytidine deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC048284			CDC GDP info	978	Hs.466910			J Clin Oncol    2007    25(1)    32-42	Pharmacokinetics of gemcitabine in Japanese cancer patients		123920		CDC	2007	Haplotype *3 harboring a nonsynonymous SNP, 208G>A (Ala70Thr), decreased clearance of gemcitabine, and increased incidences of neutropenia when patients were coadministered platinum-containing drugs or fluorouracil.		carboplatin cisplatin fluorouracil									
145299		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21.1	CDC2	62208241	62223930		Morgan, A. R.  et al. 2007	17373700				Cell division cycle 2, G1 to S and G2 to M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001786.2			CDC GDP info	983	Hs.334562			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		116940		CDC	2007												
145300		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q21.1	CDC2	62208241	62223930		Bosco, P.  et al. 2007	17498878				Cell division cycle 2, G1 to S and G2 to M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001786.2			CDC GDP info	983	Hs.334562			Neurosci Lett    2007	The CDC2 I-G-T haplotype associated with the APOE varepsilon4 allele increases the risk of sporadic Alzheimer's disease in Sicily		116940		CDC	2007												
145301	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.33	CDC2L2	1560962	1645635		Li, Y.  et al. 2006	17177267				Cell division cycle 2-like 2 (PITSLRE proteins)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209095			CDC GDP info	728642	Hs.651228			Diabetes Metab Res Rev    2006	Genetic variations of the CDC2L2 gene are associated with type 2 diabetes in a Han Chinese cohort		116951		CDC	2006	Our data suggested that the CDC2L2 gene may contribute to the susceptibility of type 2 diabetes in the northern Han Chinese population, but further studies are needed to replicate these findings.											
145303		parathyroid cancer	CANCER	CAN		1	1q25	CDC73	191357783	191487679		Haven, C. J.  et al. 2007	17555500				cell division cycle 73, Paf1/RNA polymerase II complex component, homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024529.3			CDC GDP info	79577	Hs.576497			Clin Endocrinol (Oxf)    2007	Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas		607393		CDC	2007	These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.											
145304		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p32.3	CDCP2	54377255	54392031		Li, Y. J.  et al. 2007	17388942				CUB domain containing protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201546			CDC GDP info	200008	Hs.568555			Ann Hum Genet    2007	Investigation of the PARK10 Gene in Parkinson Disease				CDC	2007												
145305		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Yu, J. C.  et al. 2006	16502042				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDP info	999	Hs.461086			J Biomed Sci    2006	Breast cancer risk associated with genotypic polymorphism of the genes involved in the estrogen-receptor-signaling pathway		192090		CDC	2006			age at first pregnancy body mass									
145306		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Bacani, J. T.  et al. 2006	16801346				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDP info	999	Hs.461086			J Med Genet    2006	CDH1/E-cadherin germline mutations in early onset gastric cancer		192090		CDC	2006	This is the first population-based study, in a low-incidence region, of genetic predisposition to gastric cancer. Combined with our previous report of germline hMLH1 mutations in two other subjects from this series, it is suggested that 2-3% of EOCG cases in North Americans may be owing to high-risk genetic mutations. These data should inform cancer genetici											
145308		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	16	16q22.1	CDH1	67328695	67426945		Zhang, Y.  et al. 2006	16929514				Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2			CDC GDP info	999	Hs.461086			Int J Cancer    2006	Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China		192090		CDC	2006												
145309	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	16	16q22.1	CDH1	67328695	67426945		Park, B. L.  et al. 2006	17202846			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Korean		CDC GDP info	999	Hs.461086			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		192090		CDC	2006												
145310	Y	hearing loss, noise induced	OTHER	OTH		10	10q21-q22	CDH23	72826696	73245659		Yang, M.  et al. 2006	16598924				Cadherin-like 23	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022124.2			CDC GDP info	64072	Hs.568788			Wei Sheng Yan Jiu    2006    35(1)    19-22	Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers		605516		CDC	2006	It was suggested that genetic polymorphism in cadherin CDH23 gene might play an important role in the development of NIHL in Chinese workers.											
145312		pancreatic cancer	CANCER	CAN	Melanoma|Neoplasms, Nerve Tissue|Pancreatic Neoplasms|Uveal Neoplasms|Skin Neoplasms|Genetic Predisposition to Disease	12	12q14	CDK4	56428269	56432431		Goldstein, A. M. et. al.  et al. 2006	17047042				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			CDC GDP info	1019	Hs.95577			Cancer Res    2006    66(20)    9818-28	High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL		123829		CDC	2006												
145313	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	12	12q14	CDK4	56428269	56432431		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2			CDC GDP info	1019	Hs.95577			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		123829		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145315		mental retardation, nonsyndromic	DEVELOPMENTAL	DEV	Mental Retardation	17	17q11.2	CDK5R1	27838217	27842384			16425041				Cyclin-dependent kinase 5, regulatory subunit 1 (p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC030792	Italian		CDC GDP info	8851	Hs.500015			Neurogenetics    2006        1-8	Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation				CDC	2006												
145316	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	7	7q21-q22	CDK6	92072170	92301148		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001259			CDC GDP info	1021	Hs.119882			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		603368		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145317		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	6	6p22.3	CDKAL1	20642666	21340611		Steinthorsdottir, V. et al.  et al. 2007	17460697				CDK5 regulatory subunit associated protein 1-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128546	Chinese;European;Icelandic		CDC GDP info	54901	Hs.657604			Nat Genet    2007	A variant in CDKAL1 influences insulin response and risk of type 2 diabetes		611259		CDC	2007												
145318		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	6	6p22.3	CDKAL1	20642666	21340611		Saxena, R. et al.  et al. 2007	17463246				CDK5 regulatory subunit associated protein 1-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128546			CDC GDP info	54901	Hs.657604			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels		611259		CDC	2007												
145321		infantile spasms mental retardation seizures	NEUROLOGICAL	NEUR	Spasms, Infantile|Seizures|Mental Retardation	X	Xp22	CDKL5	18353645	18581670		Archer, H. L.  et al. 2006	16611748				Cyclin-dependent kinase-like 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036091			CDC GDP info	6792	Hs.659851			J Med Genet    2006	CDKL5 mutations cause infantile spasms, early onset seizures and severe mental retardation in female patients		300203		CDC	2006	The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported.											
145322		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xp22	CDKL5	18353645	18581670		Li, M. R.  et al. 2006	17089071				Cyclin-dependent kinase-like 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036091			CDC GDP info	6792	Hs.659851			J Hum Genet    2006	MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome		300203		CDC	2006												
145323		esophageal cancer gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Guo, W.  et al. 2006	16480585				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Ai Zheng    2006    25(2)    194-9	Association of Polymorphisms of p21(cip1) and p27(kip1) Genes with Susceptibilities of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma.		116899		CDC	2006	In north China, p21(cip1) polymorphisms might be correlated with the susceptibility of ESCC, p27(kip1) polymorphisms might be correlated with the susceptibilities of ESCC and GCA, and they might have synergetic effect on ESCC and GCA development.		family history smoking (tobacco)									
145324	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Ma, H.  et al. 2006	16804901				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2		China	CDC GDP info	1026	Hs.370771			Int J Cancer    2006	Variant genotypes of CDKN1A and CDKN1B are associated with an increased risk of breast cancer in Chinese women		116899		CDC	2006												
145325		arthritis lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Kong, E. K.  et al. 2006	16837471				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Rheumatology (Oxford)    2006	p21 gene polymorphisms in systemic lupus erythematosus		116899		CDC	2006	Our results suggested that the p21US A allele and p21-1022 A allele were both associated with the development of SLE, and the p21US A allele was associated with arthritis in SLE patients.											
145326		leukemia	CANCER	CAN	Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Healy, J.  et al. 2006	17008550			promoter	Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2	Canadian;French		CDC GDP info	1026	Hs.370771			Blood    2006	Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia		116899		CDC	2006												
145328	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Staalesen, V.  et al. 2006	17062672	CDKN1A  G251A			Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Clin Cancer Res    2006    12(20)    6000-4	The Novel p21 Polymorphism p21G251A Is Associated with Locally Advanced Breast Cancer		116899		CDC	2006												
145330		atherosclerosis, generalized myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Rodriguez, I.  et al. 2007	17351341				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Cell Cycle    2007    6(5)	Role of the CDKN1A/p21, CDKN1C/p57, and CDKN2A/p16 Genes in the Risk of Atherosclerosis and Myocardial Infarction		116899		CDC	2007	we provide here genetic evidence for the association between DNA-variants in the CDKN1C/p57 gene and the risk of atherosclerosis and MI.											
145331	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		116899		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145332		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Knappskog, S.  et al. 2007	17443496				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Int J Cancer    2007	Mutations and polymorphisms of the p21B transcript in breast cancer		116899		CDC	2007			anthracycline paclitaxel									
145333	N	oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Bau, D. T.  et al. 2007	17595776				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Anticancer Res    2007    27(3B)    1559-64	Association of p53 and p21(CDKN1A/WAF1/CIP1) polymorphisms with oral cancer in Taiwan patients		116899		CDC	2007	Our findings suggest that the homozygous Arg allele of the p53 codon 72 may be associated with the development of oral cancer and be a useful marker for primary prevention and anticancer intervention.											
145334		esophageal cancer gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Guo, W.  et al. 2006	16480585				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDP info	1027	Hs.238990			Ai Zheng    2006    25(2)    194-9	Association of Polymorphisms of p21(cip1) and p27(kip1) Genes with Susceptibilities of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma.		600778		CDC	2006	In north China, p21(cip1) polymorphisms might be correlated with the susceptibility of ESCC, p27(kip1) polymorphisms might be correlated with the susceptibilities of ESCC and GCA, and they might have synergetic effect on ESCC and GCA development.		family history smoking (tobacco)									
145337		colorectal cancer prostate cancer	CANCER	CAN	Colorectal Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Cybulski, C.  et al. 2007	17372254				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDP info	1027	Hs.238990			Cancer Epidemiol Biomarkers Prev    2007    16(3)    572-6	Epistatic Relationship between the Cancer Susceptibility Genes CHEK2 and p27		600778		CDC	2007												
145338	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDP info	1027	Hs.238990			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		600778		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145339		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Lymphatic Metastasis|Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Naidu, R.  et al. 2007	17550142				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2		Malaysia	CDC GDP info	1027	Hs.238990			J Exp Clin Cancer Res    2007    26(1)    133-40	P27 V109G Polymorphism is associated with lymph node metastases but not with increased risk of breast cancer		600778		CDC	2007	the polymorphic variant at codon 109 of p27 gene may not be a marker for determining patients\ risk of developing breast cancer but it may be a potential genetic marker for poor prognosis, thereby a marker for tumor prognosis.											
145340		breast cancer	CANCER	CAN	Breast Neoplasms	12	12p13.1-p12	CDKN1B	12761575	12766570		Figueiredo, J. C.  et al. 2007	17567920				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2			CDC GDP info	1027	Hs.238990			BMC Cancer    2007    7(1)    99	Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis		600778		CDC	2007	Further work is recommended to understand the potential functional role of these specific non-synonymous amino acid changes and a larger, more comprehensive investigation of genetic variation in these genes (e.g., using a tagSNP approach) in combination with other relevant genes is needed as well as consideration for treatment effects when assessing their po		family history									
145341	Y	atherosclerosis, generalized myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Genetic Predisposition to Disease	11	11p15.5	CDKN1C	2861387	2863571		Rodriguez, I.  et al. 2007	17351341				Cyclin-dependent kinase inhibitor 1C (p57, Kip2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000076.1			CDC GDP info	1028	Hs.106070			Cell Cycle    2007    6(5)	Role of the CDKN1A/p21, CDKN1C/p57, and CDKN2A/p16 Genes in the Risk of Atherosclerosis and Myocardial Infarction		600856		CDC	2007	we provide here genetic evidence for the association between DNA-variants in the CDKN1C/p57 gene and the risk of atherosclerosis and MI.											
145342		cancer colorectal cancer lung cancer	CANCER	CAN	Neoplasms|Colorectal Neoplasms|Lung Neoplasms	9	9p21	CDKN2A	21957750	21965038		Debniak, T.  et al. 2006	16395703				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Polish	Poland	CDC GDP info	1029	Hs.512599			Int J Cancer    2006    118(12)    3180-2	CDKN2A common variant and multi-organ cancer risk--a population-based study		600160		CDC	2006												
145344		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Hung, R. J.  et al. 2006	16912209				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Cancer Res    2006    66(16)    8280-6	Sequence Variants in Cell Cycle Control Pathway, X-ray Exposure, and Lung Cancer Risk		600160		CDC	2006	can only be drawn on replication by different studies among individuals who are highly exposed to IR.		radiation									
145345	Y	breast cancer melanoma	CANCER	CAN	Melanoma|Breast Neoplasms	9	9p21	CDKN2A	21957750	21965038		Debniak, T.  et al. 2006	16988943				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Polish		CDC GDP info	1029	Hs.512599			Int J Cancer    2006	MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk		600160		CDC	2006	the results of this population-based study show herein that MC1R variants are associated with increased melanoma risk in the Polish population. The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T.		family history									
145346		leukemia	CANCER	CAN	Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Healy, J.  et al. 2006	17008550			promoter	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Canadian;French		CDC GDP info	1029	Hs.512599			Blood    2006	Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia		600160		CDC	2006												
145347		pancreatic cancer	CANCER	CAN	Melanoma|Neoplasms, Nerve Tissue|Pancreatic Neoplasms|Uveal Neoplasms|Skin Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Goldstein, A. M. et. al.  et al. 2006	17047042				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Cancer Res    2006    66(20)    9818-28	High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL		600160		CDC	2006												
145348		atherosclerosis, generalized myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Rodriguez, I.  et al. 2007	17351341				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Cell Cycle    2007    6(5)	Role of the CDKN1A/p21, CDKN1C/p57, and CDKN2A/p16 Genes in the Risk of Atherosclerosis and Myocardial Infarction		600160		CDC	2007	we provide here genetic evidence for the association between DNA-variants in the CDKN1C/p57 gene and the risk of atherosclerosis and MI.											
145349	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Gayther, S. A et al.  et al. 2007	17409409				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		600160		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145351		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Saxena, R. et al.  et al. 2007	17463246				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels		600160		CDC	2007												
145352		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Scott, L. J. et al.  et al. 2007	17463248				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Finnish		CDC GDP info	1029	Hs.512599			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		600160		CDC	2007												
145354	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Helgadottir, A. et al.  et al. 2007	17478679				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Science    2007	A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction		600160		CDC	2007												
145355	Y	diabetes, type 2 hypertension lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		McPherson, R.  et al. 2007	17478681				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Caucasian		CDC GDP info	1029	Hs.512599			Science    2007	A Common Allele on Chromosome 9 Associated with Coronary Heart Disease		600160		CDC	2007												
145357		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	9	9p21	CDKN2A	21957750	21965038		Pjanova, D.  et al. 2007	17505264				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Polish		CDC GDP info	1029	Hs.512599			Melanoma Res    2007    17(3)    185-191	CDKN2A and CDK4 variants in Latvian melanoma patients		600160		CDC	2007	our results show that germline mutations at the CDKN2A locus are rare in sporadic melanoma in Latvia.											
145358		leukemia	CANCER	CAN	Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Healy, J.  et al. 2006	17008550			promoter	Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3	Canadian;French		CDC GDP info	1030	Hs.72901			Blood    2006	Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia		600431		CDC	2006												
145359	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDP info	1030	Hs.72901			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		600431		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145360	Y	physical function	AGING	AGE		9	9p21	CDKN2B	21992901	21999312		Melzer, D.  et al. 2007	17459456				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDP info	1030	Hs.72901			Mech Ageing Dev    2007	A common variant of the p16(INK4a) genetic region is associated with physical function in older people		600431		CDC	2007												
145361		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Saxena, R. et al.  et al. 2007	17463246				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDP info	1030	Hs.72901			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels		600431		CDC	2007												
145363	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Zeggini, E.  et al. 2007	17463249				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDP info	1030	Hs.72901			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		600431		CDC	2007												
145364	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Helgadottir, A. et al.  et al. 2007	17478679				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3			CDC GDP info	1030	Hs.72901			Science    2007	A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction		600431		CDC	2007												
145366	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	1	1p32	CDKN2C	51206195	51212897		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001262.2			CDC GDP info	1031	Hs.525324			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		603369		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145367	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	19	19p13	CDKN2D	10538137	10540655		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001800			CDC GDP info	1032	Hs.435051			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		600927		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145369	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Chang, Y. T.  et al. 2006	16965413				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3	Chinese;Caucasian		CDC GDP info	1041	Hs.556031			Br J Dermatol    2006    155(4)    663-9	Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes		602593		CDC	2006	The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.											
145370	N	breast cancer	CANCER	CAN		16	16q24.3	CDT1	87397686	87403167		Gao, J.  et al. 2006	17029205				Chromatin licensing and DNA replication factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB053172			CDC GDP info	81620	Hs.122908			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    544-547	The association of polymorphisms of CDT1 and GMNN gene with the risk of breast cancer in Chinese women				CDC	2006	These findings suggest that the CDT1 838G/A and GMNN 387C/A polymorphisms may not play a major role in the etiology of breast cancer, but CDT1 variant may have a potential role only in genetically susceptible women.											
145371		bone density	METABOLIC	MET		13	13q12.3	CDX2	27434277	27441317		Gentil, P.  et al. 2007	17614034				Caudal type homeo box transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001265.2	Brazilian		CDC GDP info	1045	Hs.174249			Int J Sports Med    2007	Physical Activity, Cdx-2 Genotype, and BMD		600297		CDC	2007			physical activity									
145372		breast cancer	CANCER	CAN		4	4q24-q25	CENPE	104246411	104339015		Vaclavicek, A.  et al. 2007	17268814				Centromere protein E, 312kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001813	German		CDC GDP info	1062	Hs.75573			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		117143		CDC	2007												
145373	Y	Joubert syndrome nephronophthisis	NEUROLOGICAL	NEUR	Cerebellar Ataxia|Mental Retardation|Kidney Diseases, Cystic|Abnormalities, Multiple|Syndrome	12	12q21.32	CEP290	86966920	87060124		Tory, K.  et al. 2007	17409309				Centrosomal protein 290kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025114			CDC GDP info	80184	Hs.150444			J Am Soc Nephrol    2007	High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis		610142		CDC	2007	NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS.											
145374	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	16	16q13-q22.1	CES1	54394264	54424576			16419644			promoter	Carboxylesterase 1 (monocyte/macrophage serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025195.1			CDC GDP info	1066	Hs.558865			Hypertens Res    2005    28(9)    719-25	A single nucleotide polymorphism in the carboxylesterase gene is associated with the responsiveness to imidapril medication and the promoter activity		114835		CDC	2005			imipradil									
145375	N	colorectal cancer irinotecan cytotoxicity	PHARMACOGENOMIC	PHARM		16	16q22.1	CES2	65525847	65536495		Bellott, R.  et al. 2007	17483951				Carboxylesterase 2 (intestine, liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003869.4			CDC GDP info	8824	Hs.282975			Cancer Chemother Pharmacol    2007	Functional study of the 830C>G polymorphism of the human carboxylesterase 2 gene		605278		CDC	2007	The 830C>G SNP of CES2 is unlikely to have significant functional consequences on CES2 expression, activity or function.		Irinotecan									
145376		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	16	16q21	CETP	55553262	55575257		Burdon, K. P.  et al. 2005	16141008				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	European		CDC GDP info	1071	Hs.89538			J Med Genet    2005    42(9)    720-4	Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study		118470		CDC	2005	There is evidence for modest, but significant, association of multiple single nucleotide polymorphisms in lipid genes with measures of subclinical CVD.											
145377	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	16	16q21	CETP	55553262	55575257			16420563				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		United States	CDC GDP info	1071	Hs.89538			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		118470		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
145378	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis	16	16q21	CETP	55553262	55575257		Elosua, R.  et al. 2006	16430904	CETP TaqIB variant			Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Atherosclerosis    2006	Association between well-characterized lipoprotein-related genetic variants and carotid intimal medial thickness and stenosis		118470		CDC	2006	While there is no evidence for a significant association of several common lipoprotein-related genetic variants with carotid IMT, our results are consistent with the previously reported role of CETP and LPL genetic variants in cardiovascular risk and the possible modulation of the association between hypertension and carotid IMT by APOCIII Sst-1 variant.											
145379	N	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257			16522905				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		118470		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
145380		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q21	CETP	55553262	55575257			16542392				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Caucasian		CDC GDP info	1071	Hs.89538			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		118470		CDC	2006												
145381	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	16	16q21	CETP	55553262	55575257			16544732	CETP(405val)			Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	French;Israeli		CDC GDP info	1071	Hs.89538			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		118470		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
145382	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Asselbergs, F. W.  et al. 2006	16623947				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			BMC Med Genet    2006    7(1)    39	A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation		118470		CDC	2006	CETP TaqIB polymorphism is significantly associated with the presence of AF in the context of micro- or macroalbuminuria, elevated C-reactive protein, renal dysfunction, and ischemic heart disease.											
145383	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Klos, K. L.  et al. 2006	16763159				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		118470		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
145384	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Bauerfeind, A.  et al. 2006	16770077				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1	Caucasian;German		CDC GDP info	1071	Hs.89538			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		118470		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
145385		atherosclerosis, coronary cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipoproteinemia Type II|Disease Progression|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Takata, M.  et al. 2006	16822236			promoter	Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Clin Sci (Lond)    2006	Cholesteryl ester transfer protein promoter -1337 C>T polymorphism protects against coronary atherosclerosis in Japanese patients with heterozygous familial hypercholesterolemia		118470		CDC	2006												
145387	Y	cholesterol, HDL obesity	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Huang, Z. Y.  et al. 2006	16986521				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Wei Sheng Yan Jiu    2006    35(4)    447-9	Association of gene polymorphism at cholesterol ester transfer protein locus with obesity and response to dietary intervention in obesity		118470		CDC	2006	CETP-TaqIB gene polymorphism influenced serum HDL level. But this gene polymorphism at CETP locus wasn\t especial in adult obesity. Baseline HDL level influenced the change in HDL response to dietary intervention in three genotype groups.											
145388		cholesterol, HDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Xu, Z. H.  et al. 2006	17097007				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(4)    269-72	Effects of cholesterol ester transfer protein Taq1B polymorphism on response of serum HDL-C to dietary factors in hyperlipidemia patients.		118470		CDC	2006	The Taq1B CETP gene polymorphism should be a strong determinant of HDL-C in hyperlipidemia patients, and might contribute to the heterogeneity in HDL-C response to dietary intervention.											
145389	Y	cholesterol, HDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Nettleton, J. A.  et al. 2006	17157861				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Atherosclerosis    2006	Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults		118470		CDC	2006	these data show that plasma HDL-C differs according to LIPC, LPL, and CETP genotypes. In the case of LIPC and LPL, data suggest dietary fat modifies these relations.		fat									
145390		cholesterol, HDL cholesterol, LDL hypertriglyceridemia lipoproteins triglycerides	METABOLIC	MET	Hypertriglyceridemia	16	16q21	CETP	55553262	55575257		Wu, Y.  et al. 2006	17160943				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    640-6	Analysis of cholesterol ester transfer protein gene Taq IB and -629 C/A polymorphisms in patients with endogenous hypertriglyceridemia in Chinese population.		118470		CDC	2006	These results suggest that Taq IB and -629 C/A polymorphisms in CETP gene are associated with healthy control subjects to some extent in Chinese population, but not with endogenous hypertriglyleridemia in the population group.											
145391	Y	cognitive function	PSYCH	PSY	Genetic Predisposition to Disease|Cognition Disorders	16	16q21	CETP	55553262	55575257		Barzilai, N.  et al. 2006	17190939				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1		New York	CDC GDP info	1071	Hs.89538			Neurology    2006    67(12)    2170-5	A genotype of exceptional longevity is associated with preservation of cognitive function		118470		CDC	2006	Using two independent cohorts, we implicate the longevity CETP gene as a modulator of age-related cognitive function. A specific CETP genotype is associated with$$$ lower CETP levels and a favorable lipoprotein profile. It has not been determined whether modulation of this gene prevents age-related decline or AD.											
145392		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Bernard, N.  et al. 2007	17318300				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		118470		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
145393		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q21	CETP	55553262	55575257		Volcik, K.  et al. 2007	17568951				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			J Stud Alcohol Drugs    2007    68(4)    485-92	Interaction effects of high-density lipoprotein metabolism gene variation and alcohol consumption on coronary heart disease risk		118470		CDC	2007	Results from the current study suggest that interaction effects between alcohol consumption and HDL cholesterol metabolism gene variation influence the risk of incident CHD in black men.		alcohol									
145394		cholesterol, HDL	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Heidema, A. G.  et al. 2007	17615573				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Genet Epidemiol    2007	Analysis of multiple SNPs in genetic association studies		118470		CDC	2007	the application of a combination of multi-locus methods is a useful approach in genetic association studies to select a well-defined set of important SNPs for further statistical and epidemiological interpretation, providing increased confidence and more information compared with the application of only one method. Genet. Epidemiol. 2007. (c) 2007 Wiley-Liss, Inc.											
145395	Y	macular degeneration	VISION	VIS	Macular Degeneration	6	6p21.3	CFB	32021751	32027839		Gold, B.  et al. 2006	16518403				B-factor, properdin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001710			CDC GDP info	629	Hs.69771			Nat Genet    2006    38(4)    458-62	Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration		138470		CDC	2006												
145397	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	2	2q21.1	CFC1	130995136	131002053		Selamet Tierney, E. S.  et al. 2007	17445335	CFC1  N21H			Cripto, FRL-1, cryptic family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032545.2	Caucasian		CDC GDP info	55997	Hs.503733			Cardiol Young    2007        1-7	Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease		605194		CDC	2007	Three non-synonymous variants in CFC1 were identified, the N21H variant being associated with laterality defects in Caucasians, but not fully penetrant. One or more of these non-synonymous missense variants may act as a susceptibility allele in conjunction with other genes, and/or environmental factors, to cause laterality defects.											
145399		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257			16519819				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		134370		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
145400	P	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257			16541016				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Mol Vis    2006    12    156-8	Complement factor H polymorphisms in Japanese population with age-related macular degeneration		134370		CDC	2006	The frequencies for five haplotypes previously identified were analyzed in a Japanese population with AMD.											
145401		hemolytic uremic syndrome	PHARMACOGENOMIC	PHARM	Hemolytic-Uremic Syndrome|Recurrence	1	1q32	CFH	194887763	194983257		Caprioli, J.  et al. 2006	16621965				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Blood    2006	Genetics of HUS		134370		CDC	2006			plasma treatment									
145402	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Complications|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Kardys, I.  et al. 2006	16630992				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			J Am Coll Cardiol    2006    47(8)    1568-75	A common polymorphism in the complement factor h gene is associated with increased risk of myocardial infarction the rotterdam study		134370		CDC	2006	Our data suggest that the CFH gene determines susceptibility to myocardial infarction.											
145403	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Schmidt, S.  et al. 2006	16642439				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Am J Hum Genet    2006    78(5)    852-64	Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration		134370		CDC	2006			smoking (tobacco)									
145404	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Gotoh, N.  et al. 2006	16710702				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Japanese;Caucasian;Asian		CDC GDP info	3075	Hs.363396			Hum Genet    2006	No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese		134370		CDC	2006												
145407		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Seddon, J. M.  et al. 2006	16816528				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Caucasian		CDC GDP info	3075	Hs.363396			Hum Hered    2006    61(3)    157-165	CFH Gene Variant, Y402H, and Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration		134370		CDC	2006	Genetic and environmental factors are independently related to advanced AMD, and modifiable factors alter genetic susceptibility.		body mass smoking (tobacco)									
145408	Y	macular degeneration	VISION	VIS	Macular Degeneration|Atrophy	1	1q32	CFH	194887763	194983257		Postel, E. A.  et al. 2006	16828512				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Ophthalmology    2006	Complement Factor H Increases Risk for Atrophic Age-Related Macular Degeneration		134370		CDC	2006	Our results indicate that CFH increases the risk of developing GA (grade 4) as well as neovascular (grade 5) and milder (grade 3) disease.											
145409	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Despriet, D. D.  et al. 2006	16849663				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			JAMA    2006    296(3)    301-9	Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration		134370		CDC	2006	The CFH Y402H polymorphism may account for a substantial proportion of AMD in individuals similar to those in the Rotterdam Study and may confer particular risk in the presence of environmental and genetic stimulators of the complement cascade.		c-reactive protein erythrocyte sedimentation rate smoking (tobacco)									
145410			VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Grassi, M. A.  et al. 2006	16865697				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	JapaneseAfrican American;Hispanic; Caucasian;European		CDC GDP info	3075	Hs.363396			Hum Mutat    2006	Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His		134370		CDC	2006												
145411	P	macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization	1	1q32	CFH	194887763	194983257		Lau, L. I.  et al. 2006	16877387				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2		Taiwan	CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2006    47(8)    3242-6	Association of the Y402H Polymorphism in Complement Factor H Gene and Neovascular Age-Related Macular Degeneration in Chinese Patients		134370		CDC	2006	The allele frequency of Y402H polymorphism in CFH has an ethnic variation, with much lower 1277C frequency in Chinese than in white patients.											
145412	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Seitsonen, S.  et al. 2006	16885922				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Caucasian;Finnish		CDC GDP info	3075	Hs.363396			Mol Vis    2006    12    796-801	Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population		134370		CDC	2006	The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.											
145414	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Kaur, I.  et al. 2006	16936080				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Indian		CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2006    47(9)    3729-35	Analysis of CFH, TLR4, and APOE Polymorphism in India Suggests the Tyr402His Variant of CFH to be a Global Marker for Age-Related Macular Degeneration		134370		CDC	2006	The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis.											
145415		macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Maller, J.  et al. 2006	16936732				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	European	United States	CDC GDP info	3075	Hs.363396			Nat Genet    2006	Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration		134370		CDC	2006												
145416		macular degeneration	VISION	VIS	Macular Degeneration|Disease Susceptibility	1	1q32	CFH	194887763	194983257		Li, M.  et al. 2006	16936733				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Nat Genet    2006	CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration		134370		CDC	2006												
145417		age-related maculopathy	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Conley, Y. P.  et al. 2006	17000705				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Hum Mol Genet    2006	CFH, ELOVL4, PLEKHA1, and LOC387715 genes and susceptibility to Age-Related Maculopathy		134370		CDC	2006												
145418		macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Baird, P. N.  et al. 2006	17003406				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2006    47(10)    4194-8	Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration		134370		CDC	2006	The C allele of Y402H represents a significant risk factor in individuals with AMD, and this effect is most pronounced in individuals with neovascular disease.											
145420	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Uka, J.  et al. 2006	17151483				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2		Japan	CDC GDP info	3075	Hs.363396			Retina    2006    26(9)    985-987	NO ASSOCIATION OF COMPLEMENT FACTOR H GENE POLYMORPHISM AND AGE-RELATED MACULAR DEGENERATION IN THE JAPANESE POPULATION		134370		CDC	2006	CFH gene polymorphism is not associated with AMD in the Japanese population.											
145421	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Fuse, N.  et al. 2006	17157600				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2		Japan	CDC GDP info	3075	Hs.363396			Am J Ophthalmol    2006    142(6)    1074-1076	Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration		134370		CDC	2006	The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.											
145422	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Chen, L. J.  et al. 2006	17167412	rs3753394   promoter			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Japanese;Chinese;Caucasian		CDC GDP info	3075	Hs.363396			Mol Vis    2006    12    1536-42	Association of complement factor H polymorphisms with exudative age-related macular degeneration	rs3753394	134370		CDC	2006	We have found differences in the association between the CFH gene and exudative AMD in Chinese from Caucasians and Japanese.		smoking (tobacco)									
145424	Y	macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization	1	1q32	CFH	194887763	194983257		Deangelis, M. M.  et al. 2007	17210851				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Arch Ophthalmol    2007    125(1)    49-54	Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular Degeneration		134370		CDC	2007	Smoking and having the CFH CC genotype independently increase risk of neovascular AMD.		smoking (tobacco)									
145425		macular degeneration	VISION	VIS	Macular Degeneration|Obesity|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Schaumberg, D. A.  et al. 2007	17210852				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Arch Ophthalmol    2007    125(1)    55-62	A Prospective Study of 2 Major Age-Related Macular Degeneration Susceptibility Alleles and Interactions With Modifiable Risk Factors		134370		CDC	2007	Age-related macular degeneration has emerged as a paradigmatic example of a common disease caused by the interplay of genetic predisposition and exposure to modifiable risk factors.											
145426	Y	macular degeneration	VISION	VIS	Macular Degeneration|Retinal Drusen	1	1q32	CFH	194887763	194983257		Grassi, M. A.  et al. 2007	17210858				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Arch Ophthalmol    2007    125(1)    93-7	Complement Factor H Polymorphism p.Tyr402His and Cuticular Drusen		134370		CDC	2007	The cuticular drusen phenotype is highly associated with the Tyr402His variant of the complement factor H (CFH) gene.											
145428	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Dinu, V.  et al. 2007	17266113				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Genet Epidemiol    2007	Evidence for association between multiple complement pathway genes and AMD		134370		CDC	2007												
145429	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Narayanan, R.  et al. 2007	17306880	Complement factor H polymorphism T1277C (tyrosine-402 --> histidine-402)			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Ophthalmology    2007	Complement Factor H Polymorphism in Age-Related Macular Degeneration		134370		CDC	2007	Complement factor H polymorphism T1277C (tyrosine-402 --> histidine-402) is strongly associated with both dry and wet AMD and points to a possible role for inflammation in the pathogenesis of AMD.											
145430	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Ennis, S.  et al. 2007	17314151				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Br J Ophthalmol    2007	Fine scale Linkage Disequilibrium mapping of Age Related Macular Degeneration in the Complement Factor H gene region		134370		CDC	2007	The findings are consistent with evidence that, in addition to the widely described Y402H variant, there is at least one and, most probably, several other mutations in the CFH gene which determine disease manifestation in AMD.											
145432	N	atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Nicaud, V.  et al. 2007	17396242				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			J Mol Med    2007	Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction		134370		CDC	2007												
145433	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Wegscheider, B. J.  et al. 2007	17398321	Tyr402His			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	European		CDC GDP info	3075	Hs.363396			Ophthalmology    2007    114(4)    738-42	Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration		134370		CDC	2007	Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.											
145434		macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Cameron, D. J.  et al. 2007	17426452				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Cell Cycle    2007    6(9)	HTRA1 Variant Confers Similar Risks to Geographic Atrophy and Neovascular Age-related Macular Degeneration		134370		CDC	2007												
145435		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Yoshida, T.  et al. 2007	17438519			promoter	Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Japanese;Chinese;Caucasian		CDC GDP info	3075	Hs.363396			Mol Vis    2007    13    545-8	HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration		134370		CDC	2007	The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD.											
145436	Y	macular degeneration	VISION	VIS	Macular Degeneration|Disease Progression	1	1q32	CFH	194887763	194983257		Seddon, J. M.  et al. 2007	17456821				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			JAMA    2007    297(16)    1793-800	Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration		134370		CDC	2007	Common polymorphisms in the genes CFH and LOC387715 are independently related to AMD progression after adjustment for other known AMD risk factors.		body mass smoking (tobacco)									
145438	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Stark, K.  et al. 2007	17472578	CFH  Y402H			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Caucasian;German		CDC GDP info	3075	Hs.363396			Clin Sci (Lond)    2007	Common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors		134370		CDC	2007												
145439	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	1	1q32	CFH	194887763	194983257		Pai, J. K.  et al. 2007	17483111				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Eur Heart J    2007	Complement factor H (Y402H) polymorphism and risk of coronary heart disease in US men and women		134370		CDC	2007	CFH Y402H was inversely associated with CHD among women, but not men.											
145440		glomerular filtration rate macular degeneration	OTHER	OTH	Macular Degeneration	1	1q32	CFH	194887763	194983257		Thompson, C. L.  et al. 2007	17591627				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Hum Mol Genet    2007	Complement Factor H and Hemicentin-1 in Age-Related Macular Degeneration and Renal Phenotypes		134370		CDC	2007												
145441	N	retinal venular dilatation	VISION	VIS		1	1q32	CFH	194887763	194983257		de Jong, F. J.  et al. 2007	17591866				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2007    48(7)    3014-8	Complement factor h polymorphism, inflammatory mediators, and retinal vessel diameters		134370		CDC	2007	The findings do not support the hypothesis that the His(402) allele is related to larger retinal venular diameters.											
145442	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFHR1	195010552	195067942		Hughes, A. E.  et al. 2006	16998489		protective		complement factor H-related 1		European		CDC GDP info	3078	Hs.575869			Nat Genet    2006	A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration				CDC	2006												
145443		macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFHR1	195010552	195067942		Hageman, G. S.  et al. 2006	17438673				complement factor H-related 1				CDC GDP info	3078	Hs.575869			Ann Med    2006    38(8)    592-604	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration				CDC	2006	The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with a											
145445	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFHR3	195010552	195067942		Hughes, A. E.  et al. 2006	16998489		protective		Complement factor H-related 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ640130	European		CDC GDP info	10878	Hs.575869			Nat Genet    2006	A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration				CDC	2006												
145446		macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFHR3	195010552	195067942		Hageman, G. S.  et al. 2006	17438673				Complement factor H-related 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ640130			CDC GDP info	10878	Hs.575869			Ann Med    2006    38(8)    592-604	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration				CDC	2006	The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with a											
145447		macular degeneration	VISION	VIS	Macular Degeneration	1		CFHR4	195123834	195154386		Hageman, G. S.  et al. 2006	17438673				Complement factor H-related 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006684.2			CDC GDP info	10877	Hs.575869			Ann Med    2006    38(8)    592-604	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration				CDC	2006	The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with a											
145448		hemolytic uremic syndrome	METABOLIC	MET	Hemolytic-Uremic Syndrome	1	1q22-q23	CFHR5	195213330	195245427		Monteferrante, G.  et al. 2007	17000000				Complement factor H-related 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF295327			CDC GDP info	81494	Hs.282594			Mol Immunol    2007    44(7)    1704-8	Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome				CDC	2007	though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS.											
145450		hemolytic uremic syndrome	PHARMACOGENOMIC	PHARM	Hemolytic-Uremic Syndrome|Recurrence	4	4q25	CFI	110881296	110942783		Caprioli, J.  et al. 2006	16621965				Complement factor I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122686			CDC GDP info	3426	Hs.312485			Blood    2006	Genetics of HUS				CDC	2006			plasma treatment									
145451	Y	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	11	11q13	CFL1	65378860	65383462		Zhu, H.  et al. 2007	17352815				Cofilin 1 (non-muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM462286	non-Hispanic		CDC GDP info	1072	Hs.170622			BMC Med Genet    2007    8(1)    12	Association between CFL1 gene polymorphisms and spina bifida risk in a California population		601442		CDC	2007	The sequence variation of human CFL1 gene is a genetic modifier for spina bifida risk in this California population.											
145452	N	breast cancer cervical cancer colorectal cancer esophageal cancer lung cancer stomach cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CFLAR	201689134	201737248		Sun, T.  et al. 2007	17450141			promoter	CASP8 and FADD-like apoptosis regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209600			CDC GDP info	8837	Hs.390736			Nat Genet    2007	A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers				CDC	2007												
145453			UNKNOWN	UNK	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Vera, A.  et al. 2005	16341382				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	European		CDC GDP info	1080	Hs.489786			Rev Med Chil    2005    133(7)    767-75	Screening of the delta-F508 mutation and analysis of two Single Nucleotide Polymorphism of the CFTR gene, in a sample of the general population of Valparaiso, Chile		602421		CDC	2005												
145454		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Elahi, E.  et al. 2006	16436643				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Iranian		CDC GDP info	1080	Hs.489786			J Mol Diagn    2006    8(1)    119-27	A haplotype framework for cystic fibrosis mutations in iran		602421		CDC	2006												
145456		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		McKone, E. F.  et al. 2006	16690975				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			Am J Respir Crit Care Med    2006	Variants in the Glutamate-Cysteine-Ligase Gene are Associated with Cystic Fibrosis Lung Disease		602421		CDC	2006	In patients with CF with a milder CFTR genotype, there is a strong association between functional polymorphisms of the GCLC gene and CF lung disease severity.											
145457	N	osteoporosis	METABOLIC	MET	Osteoporosis|Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Castellani, C.  et al. 2006	16713399				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			J Cyst Fibros    2006	The genetic background of osteoporosis in cystic fibrosis		602421		CDC	2006	There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.											
145458		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Urquhart, D. S.  et al. 2006	16830219				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			Arch Immunol Ther Exp (Warsz)    2006	Modifier effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis		602421		CDC	2006	Potential reasons for absence of modifier effect include the basolateral location of TLR4 receptors on respiratory epithelium, or because inflammatory response to PA in the CF airway is so overwhelming that even a blunted response (as suggested for the 299G allele) results in increased inflammation and lung damage.											
145459			UNKNOWN	UNK	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Nikolic, A.  et al. 2006	16915933				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	European;Serbian		CDC GDP info	1080	Hs.489786			Genetika    2006    42(7)    996-8	Analysis of common CFTR polymorphisms 5T, M470V and R75Q in healthy Serbian population		602421		CDC	2006												
145460		pancreatitis, acute pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease|Recurrence	7	7q31.2	CFTR	116893073	117095954		Sobczynska-Tomaszewska, A.  et al. 2006	16954950				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			J Pediatr Gastroenterol Nutr    2006    43(3)    299-306	Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis		602421		CDC	2006	PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease.											
145461		pancreatitis, chronic pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease	7	7q31.2	CFTR	116893073	117095954		Keiles, S.  et al. 2006	17003641				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			Pancreas    2006    33(3)    221-7	Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis (GT)		602421		CDC	2006	Comprehensive testing of the CFTR, PRSS1, and SPINK1 genes identified genetic variants in nearly half of all subjects considered by their physicians as candidates for genetic testing.											
145462	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Piepoli, A.  et al. 2006	17072959				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Italian	Italy	CDC GDP info	1080	Hs.489786			World J Gastroenterol    2006    12(39)    6343-6348	Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients		602421		CDC	2006	UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.											
145463		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7q31.2	CFTR	116893073	117095954		Valle, E. P.  et al. 2007	17432547				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	European	Ecuador|Spain	CDC GDP info	1080	Hs.489786			Invest Clin    2007    48(1)    91-8	Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuatorian population		602421		CDC	2007												
145464		pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	7	7q31.2	CFTR	116893073	117095954		Tzetis, M.  et al. 2007	17489851				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3	Greek		CDC GDP info	1080	Hs.489786			Clin Genet    2007    71(5)    451-7	Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis		602421		CDC	2007												
145466		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23	CH25H	90955673	90957051		Papassotiropoulos, A.  et al. 2005	16909003				Cholesterol 25-hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003956.3			CDC GDP info	9023	Hs.47357			Neurodegener Dis    2005    2(5)    233-241	Cholesterol 25-Hydroxylase on Chromosome 10q Is a Susceptibility Gene for Sporadic Alzheimer's Disease		604551		CDC	2005												
145467		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23	CH25H	90955673	90957051		Morgan, A. R.  et al. 2007	17373700				Cholesterol 25-hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003956.3			CDC GDP info	9023	Hs.47357			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		604551		CDC	2007												
145468		Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156			16424819				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDP info	1103	Hs.302002			Pharmacogenet Genomics    2006    16(2)    75-77	A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's disease		118490		CDC	2006	Rs733722 represents a putative marker of response to AChE inhibitors in AD patients.		cholinesterase inhibitors									
145469	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	CHAT	50487146	50543156		Ahn Jo, S.  et al. 2006	16480703				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3	Korean		CDC GDP info	1103	Hs.302002			Clin Chim Acta    2006	ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease		118490		CDC	2006	There is considerable effect of the ChAT polymorphisms on AD in Korean population and this effect is dependent on ApoE genotypes.			APOE		CHAT						
145471		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q11.2	CHAT	50487146	50543156		Piccardi, M.  et al. 2007	17503475				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3	Sardinian		CDC GDP info	1103	Hs.302002			Am J Med Genet B Neuropsychiatr Genet    2007	Alzheimer's disease		118490		CDC	2007												
145472		schizophrenia	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Schizophrenia	10	10q11.2	CHAT	50487146	50543156		Mancama, D.  et al. 2007	17503482				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDP info	1103	Hs.302002			Am J Med Genet B Neuropsychiatr Genet    2007	Choline acetyltransferase variants and their influence in schizophrenia and olanzapine response		118490		CDC	2007			olanzapine									
145473		cleft lip with cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Abnormalities, Multiple|Syndrome	8	8q12.2	CHD7	61753892	61942021		Felix, T. M.  et al. 2006	16763960				Chromodomain helicase DNA binding protein 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017780.2			CDC GDP info	55636	Hs.20395			Am J Med Genet A    2006	CHD7 gene and non-syndromic cleft lip and palate		608892		CDC	2006												
145474		choline deficiency	METABOLIC	MET	Choline Deficiency	3	3p21.1	CHDH	53826678	53855216		da Costa, K. A.  et al. 2006	16816108				Choline dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055402			CDC GDP info	55349	Hs.126688			FASEB J    2006    20(9)    1336-44	Common genetic polymorphisms affect the human requirement for the nutrient choline				CDC	2006												
145475	Y	colorectal cancer	CANCER	CAN	Adenofibroma|Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	11	11q24-q24	CHEK1	125001078	125051360		Kim, C. J.  et al. 2007	17408908				CHK1 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC017575			CDC GDP info	1111	Hs.24529			Eur J Surg Oncol    2007	Chk1 frameshift mutation in sporadic and hereditary non-polyposis colorectal cancers with microsatellite instability		603078		CDC	2007	These results suggest that the Chk1 gene is a target of genomic instability in MSI-positive colorectal cancers and that the Chk1 framshift mutations might be involved in colorectal tumourigenesis through a defect in response to DNA damage in a subset of sporadic colorectal cancers and HNPCCs.											
145476	N	breast cancer colorectal cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Neoplasms, Second Primary	22	22q11	CHEK2	27413730	27467822			16539695				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			BMC Cancer    2006    6(1)    64	CHEK2 1100delC in patients with metachronous cancers of the breast and the colorectum		604373		CDC	2006	In summary, our data suggest that the CHEK2 1100delC is not a major cause of double primary breast and colorectal cancer in Sweden, which suggests that this patient group should not routinely be screened for the CHEK2 1100delC variant.											
145477		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Chekmariova, E. V.  et al. 2006	16758118				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Russian		CDC GDP info	11200	Hs.291363			Breast Cancer Res Treat    2006	CHEK2 1100delC mutation is frequent among Russian breast cancer patients		604373		CDC	2006												
145479	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Szymanska-Pasternak, J.  et al. 2006	16828850				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish;Russian		CDC GDP info	11200	Hs.291363			Gynecol Oncol    2006	CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors		604373		CDC	2006	These data indicate that CHEK2 variants may predispose to a range of ovarian tumor types of low malignant potential, but not to aggressive cancers.											
145480		breast cancer	CANCER	CAN		22	22q11	CHEK2	27413730	27467822		Song, C.  et al. 2006	16883537				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    443-5	CHEK2 c.1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China.		604373		CDC	2006	CHEK2 c.											
145481	Y	estrogen receptor status	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		de Bock, G. H.  et al. 2006	17010071				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Int J Gynecol Cancer    2006    16 Suppl 2    552-5	Association between the CHEK2*1100delC germ line mutation and estrogen receptor status		604373		CDC	2006												
145483	Y	prostate cancer	CANCER	CAN		22	22q11	CHEK2	27413730	27467822		Cybulski, C.  et al. 2006	17077104				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish		CDC GDP info	11200	Hs.291363			J Med Genet    2006	A large germline deletion in CHEK2 is associated with an increased risk of prostate cancer		604373		CDC	2006	A large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men.											
145485	N	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Einarsdottir, K.  et al. 2006	17132159				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Breast Cancer Res    2006    8(6)    R67	Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival		604373		CDC	2006	Our results indicate that common variants in the ATM, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined breast cancer.											
145486	Y	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Schmidt, M. K.  et al. 2006	17132695				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			J Clin Oncol    2006	Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the CHEK2*1100delC Germline Mutation		604373		CDC	2006	Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management											
145487	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Einarsdottir, K.  et al. 2006	17164260				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Hum Mol Genet    2006	Effect of ATM, CHEK2 and ERBB2 tagSNPs and haplotypes on endometrial cancer risk		604373		CDC	2006	it is possible that common variants in the ATM and CHEK2 genes, in interaction with oestrogen-related exposures, are involved in endometrial cancer aetiology.		smoking (tobacco)									
145488		breast cancer cancer colorectal cancer prostate cancer	CANCER	CAN	Neoplasms|Breast Neoplasms	22	22q11	CHEK2	27413730	27467822		Thompson, D.  et al. 2006	17164383				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	European;German	United States|Germany|Great Britain|Netherlands	CDC GDP info	11200	Hs.291363			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2542-5	A Multicenter Study of Cancer Incidence in CHEK2 1100delC Mutation Carriers		604373		CDC	2006												
145489	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Metastasis|Neoplasm Recurrence, Local	22	22q11	CHEK2	27413730	27467822		Meyer, A.  et al. 2007	17250914				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Radiother Oncol    2007	Breast cancer in patients carrying a germ-line CHEK2 mutation		604373		CDC	2007	Heterozygosity for a germline CHEK2 mutation appears to represent an adverse prognostic factor in patients with early-stage breast cancer. If confirmed in larger studies these data may serve as a basis for future surveillance and treatment strategies taking into account individual germline mutational status.											
145491		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Johnson, N.  et al. 2007	17341484				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		604373		CDC	2007												
145492		colorectal cancer prostate cancer	CANCER	CAN	Colorectal Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Cybulski, C.  et al. 2007	17372254				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Cancer Epidemiol Biomarkers Prev    2007    16(3)    572-6	Epistatic Relationship between the Cancer Susceptibility Genes CHEK2 and p27		604373		CDC	2007												
145493		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasms, Multiple Primary	22	22q11	CHEK2	27413730	27467822			17380889				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Russian		CDC GDP info	11200	Hs.291363			Mol Biol (Mosk)    2007    41(1)    37-42	Analysis of BRCA1/2 and CHEK2 mutations in ovarian cancer and primary multiple tumors involving the ovaries. Patients of Russian population using biochips		604373		CDC	2007												
145494		breast cancer	CANCER	CAN		22	22q11	CHEK2	27413730	27467822		Johnson, N.  et al. 2007	17409195				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		604373		CDC	2007												
145495	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Baynes, C.  et al. 2007	17428325				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3			CDC GDP info	11200	Hs.291363			Breast Cancer Res    2007    9(2)    R27	Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk		604373		CDC	2007	It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.											
145496	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	14	14q32	CHGA	92459244	92471389		Takahashi, N.  et al. 2006	16504480				Chromogranin A (parathyroid secretory protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001275		Japan	CDC GDP info	1113	Hs.150793			Schizophr Res    2006	Association between chromogranin A gene polymorphism and schizophrenia in the Japanese population		118910		CDC	2006												
145497	Y	endothelial function	CARDIOVASCULAR	CARD	Hypertension	14	14q32	CHGA	92459244	92471389		Lillie, E. O.  et al. 2007	17438153				Chromogranin A (parathyroid secretory protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001275			CDC GDP info	1113	Hs.150793			Circulation    2007	Heredity of Endothelin Secretion. Human Twin Studies Reveal the Influence of Polymorphism at the Chromogranin A Locus, a Novel Determinant of Endothelial Function		118910		CDC	2007	These results suggest that common, heritable variation in expression of the human CHGA gene influences endothelial ET-1 secretion in vivo, explained by a CHGA stimulus/ET-1 secretion coupling in endothelial cells in vitro. The findings document a previously unsuspected interaction between the sympathochromaffin system and the endothelium and suggest novel genetic and cell biological approaches to the prediction, diagnosis, and mechanism of endothelial dysfunction in human disease.											
145499		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q32.1	CHI3L1	201414552	201422500		Zhao, X.  et al. 2007	17160890			promoter	Chitinase 3-like 1 (cartilage glycoprotein-39)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001276			CDC GDP info	1116	Hs.382202			Am J Hum Genet    2007    80(1)    12-8	Functional Variants in the Promoter Region of Chitinase 3-Like 1 (CHI3L1) and Susceptibility to Schizophrenia		601525		CDC	2007												
145500	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary	1	1q32.1	CHI3L1	201414552	201422500		Kruit, A.  et al. 2007	17236752				Chitinase 3-like 1 (cartilage glycoprotein-39)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001276			CDC GDP info	1116	Hs.382202			Respir Med    2007	A CHI3L1 gene polymorphism is associated with serum levels of YKL-40, a novel sarcoidosis marker		601525		CDC	2007	YKL-40 may be used as a sarcoidosis disease marker, but it is unsuitable as a marker to predict the course of the disease. The CHI3L1 -329 G/A polymorphism contributes to inter-individual variations of YKL-40 levels, but does not influence sarcoidosis disease susceptibility or severity.											
145501		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q31-q32	CHIT1	201448581	201508560		Bierbaum, S.  et al. 2006	16712652				Chitinase 1 (chitotriosidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003465.1	Caucasian		CDC GDP info	1118	Hs.201688			Int J Immunogenet    2006    33(3)    201-4	Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma		600031		CDC	2006												
145503		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism	11		CHKA	67576901	67645434		Enaw, J.  et al. 2006	17184542				Choline kinase alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=		California	CDC GDP info	1119	Hs.569019			BMC Med    2006    4(1)    36	CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California Population				CDC	2006	Our analyses showed genotype effects of CHKA and PCYT1A genes on spina bifida risk, but did not show evidence of gene-nutrient interactions. The underlying mechanisms are yet to be resolved.		choline									
145504		dementia	NEUROLOGICAL	NEUR	Dementia	3	3p11.2	CHMP2B	87359286	87387339		Rizzu, P.  et al. 2006	16941655				Chromatin modifying protein 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK002165	Danish		CDC GDP info	25978	Hs.476930			Am J Med Genet B Neuropsychiatr Genet    2006	CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia		609512		CDC	2006												
145505		bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	15	15q13.1	CHRFAM7A	28440734	28473156		Flomen, R. H.  et al. 2006	16823804				CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139320	Scottish		CDC GDP info	89832	Hs.510853			Am J Med Genet B Neuropsychiatr Genet    2006	Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder				CDC	2006												
145507	Y	nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q13	CHRM1	62432726	62445588		Lou, X. Y.  et al. 2006	16874522				Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2	European		CDC GDP info	1128	Hs.632119			Hum Genet    2006    120(3)    381-9	Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence		118510		CDC	2006												
145508	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	CHRM1	62432726	62445588		Maeda, Y.  et al. 2006	16931638				Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2			CDC GDP info	1128	Hs.632119			Am J Respir Crit Care Med    2006	Polymorphisms in the Muscarinic Receptor 1 Gene Confer Susceptibility to Asthma in Japanese Subjects		118510		CDC	2006	This study, together with an in vitro functional study, suggests that the CHRM1 gene is an important susceptibility locus for asthma on chromosome11q13.											
145509	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11q13	CHRM1	62432726	62445588		Shi, J.  et al. 2007	17373692				Cholinergic receptor, muscarinic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000738.2			CDC GDP info	1128	Hs.632119			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118510		CDC	2007												
145510	Y	heart rate	CARDIOVASCULAR	CARD		7	7q31-q35	CHRM2	136203938	136352311		Hautala, A. J.  et al. 2006	16501017				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDP info	1129	Hs.535891			Am J Physiol Heart Circ Physiol    2006	Heart Rate Recovery after Maximal Exercise is Associated with Acetylcholine Receptor M2 (CHRM2) Gene Polymorphism		118493		CDC	2006			physical activity									
145511	Y	intelligence	PSYCH	PSY		7	7q31-q35	CHRM2	136203938	136352311		Gosso, M. F.  et al. 2006	17081262				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDP info	1129	Hs.535891			Genes Brain Behav    2006    5(8)    577-84	Association between the CHRM2 gene and intelligence in a sample of 304 Dutch families		118493		CDC	2006												
145512	Y	intelligence	PSYCH	PSY	Alcoholism	7	7q31-q35	CHRM2	136203938	136352311		Dick, D. M.  et al. 2006	17160701				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDP info	1129	Hs.535891			Behav Genet    2006	Association of CHRM2 with IQ		118493		CDC	2006												
145513	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	7	7q31-q35	CHRM2	136203938	136352311		Shi, J.  et al. 2007	17373692				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDP info	1129	Hs.535891			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118493		CDC	2007												
145514		personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Personality Disorders	7	7q31-q35	CHRM2	136203938	136352311		Luo, X.  et al. 2007	17468496				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1	European		CDC GDP info	1129	Hs.535891			Hum Mol Genet    2007	CHRM2 variation predisposes to personality traits of Agreeableness and Conscientiousness		118493		CDC	2007												
145515		alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	7	7q31-q35	CHRM2	136203938	136352311		Dick, D. M.  et al. 2007	17567401				Cholinergic receptor, muscarinic 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006627.1			CDC GDP info	1129	Hs.535891			Addiction    2007    102(7)    1131-9	Alcohol dependence with comorbid drug dependence		118493		CDC	2007	These analyses provide specific genetic evidence suggesting that alcohol dependence with comorbid drug dependence represents a particularly severe form of the disorder, with higher genetic contribution to vulnerability.											
145516	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q41-q44	CHRM3	237616487	238139340		Guo, Y.  et al. 2006	17130513				Cholinergic receptor, muscarinic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000740.2	Indian;Pima Indians		CDC GDP info	1131	Hs.7138			Diabetes    2006    55(12)    3625-9	CHRM3 Gene Variation Is Associated With Decreased Acute Insulin Secretion and Increased Risk for Early-Onset Type 2 Diabetes in Pima Indians		118494		CDC	2006												
145518	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p12-p11.2	CHRM4	46363215	46364683		Shi, J.  et al. 2007	17373692				Cholinergic receptor, muscarinic 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF385590			CDC GDP info	1132	Hs.248100			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118495		CDC	2007												
145519	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15	15q26	CHRM5	32048380	32144579		Shi, J.  et al. 2007	17373692				Cholinergic receptor, muscarinic 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068528			CDC GDP info	1133	Hs.584747			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118496		CDC	2007												
145520	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p15.5	CHRNA10	3643392	3649190		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020402			CDC GDP info	57053	Hs.157714			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		606372		CDC	2007												
145521		cognitive function	PSYCH	PSY		11	11p15.5	CHRNA10	3643392	3649190		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020402			CDC GDP info	57053	Hs.157714			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		606372		CDC	2007			smoking (tobacco)									
145522	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	2	2q24-q32	CHRNA1	175320568	175337427		Shi, J.  et al. 2007	17373692				CHRNA1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000079.2			CDC GDP info	1134	Hs.434479			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		100690		CDC	2007												
145523	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	8	8p21	CHRNA2	27374181	27392675		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000742.1			CDC GDP info	1135	Hs.558310			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118502		CDC	2007												
145524		cognitive function	PSYCH	PSY		8	8p21	CHRNA2	27374181	27392675		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000742.1			CDC GDP info	1135	Hs.558310			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118502		CDC	2007			smoking (tobacco)									
145525		epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Frontal Lobe|Chromosome Disorders	8	8p21	CHRNA2	27374181	27392675		Gu, W.  et al. 2007	17602836				Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000742.1	Italian		CDC GDP info	1135	Hs.558310			Neurosci Lett    2007	A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely		118502		CDC	2007												
145526	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15	15q24	CHRNA3	76672449	76700377		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000743.2			CDC GDP info	1136	Hs.89605			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118503		CDC	2007												
145527		DNA damage	NEUROLOGICAL	NEUR	Alzheimer Disease|DNA Damage	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Dorszewska, J.  et al. 2005	16332175				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			DNA Cell Biol    2005    24(12)    786-94	Polymorphisms of the CHRNA4 gene encoding the alpha4 subunit of nicotinic acetylcholine receptor as related to the oxidative DNA damage and the level of apoptotic proteins in lymphocytes of the patients with Alzheimer's disease		118504		CDC	2005												
145528		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Zhang, L.  et al. 2006	16456787				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    55-8	Polymorphisms of neural nicotinic cholinergic receptor alpha 4 gene of Chinese.		118504		CDC	2006	nAChR alpha 4 gene is polymorphic.											
145530		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	20	20q13.2-q13.3	CHRNA4	61445108	61479933		De Luca, V.  et al. 2006	16636791				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3	Canadian		CDC GDP info	1137	Hs.10734			Exp Brain Res    2006	Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor		118504		CDC	2006												
145531		attention brain white matter	AGING	AGE		20	20q13.2-q13.3	CHRNA4	61445108	61479933		Espeseth, T.  et al. 2006	16869227				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Cogn Affect Behav Neurosci    2006    6(1)    31-43	Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults		118504		CDC	2006												
145532	Y	alcohol-related phenotypes nicotine	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders|Alcoholism|Tobacco Use Disorder	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Ehringer, M. A.  et al. 2007	17226798				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3	Caucasian		CDC GDP info	1137	Hs.10734			Am J Med Genet B Neuropsychiatr Genet    2007	Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine		118504		CDC	2007												
145534	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Lee, C. C.  et al. 2007	17385675				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			J Clin Lab Anal    2007    21(2)    67-70	Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits		118504		CDC	2007												
145536		attention deficit hyperactivity disorder	PSYCH	PSY		20	20q13.2-q13.3	CHRNA4	61445108	61479933		Lee, J.  et al. 2007	17504247				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Genes Brain Behav    2007	Association study of the nicotinic acetylcholine receptor alpha4 subunit gene, CHRNA4, in attention-deficit hyperactivity disorder		118504		CDC	2007												
145537		cognitive function	PSYCH	PSY		20	20q13.2-q13.3	CHRNA4	61445108	61479933		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118504		CDC	2007			smoking (tobacco)									
145538	Y	attentional network function	PSYCH	PSY	Tobacco Use Disorder|Attention Deficit Disorder with Hyperactivity	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Winterer, G.  et al. 2007	17613539				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3	Caucasian		CDC GDP info	1137	Hs.10734			Hum Mol Genet    2007	Association of attentional network function with exon 5 variations of the CHRNA4 gene		118504		CDC	2007												
145539		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	15		CHRNA5	76644960	76673515		Saccone, S. F.  et al. 2006	17135278				Cholinergic receptor, nicotinic, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000745.2			CDC GDP info	1138	Hs.1614			Hum Mol Genet    2006	Cholinergic Nicotinic Receptor Genes Implicated in a Nicotine Dependence Association Study Targeting 348 Candidate Genes with 3,713 SNPs		118505		CDC	2006												
145540	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15		CHRNA5	76644960	76673515		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000745.2			CDC GDP info	1138	Hs.1614			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118505		CDC	2007												
145541		cognitive function	PSYCH	PSY		15		CHRNA5	76644960	76673515		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000745.2			CDC GDP info	1138	Hs.1614			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118505		CDC	2007			smoking (tobacco)									
145543	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Fan, J. B.  et al. 2006	16563701				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDP info	1139	Hs.511772			Schizophr Res    2006	Population-based and family-based association studies of an (AC)n dinucleotide repeat in alpha-7 nicotinic receptor subunit gene and schizophrenia		118511		CDC	2006	our results do not support a major role for the (AC)n dinucleotide repeat in schizophrenia susceptibility in Han Chinese.											
145544	Y	memory performance	PSYCH	PSY	Memory Disorders|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Dempster, E. L.  et al. 2006	17012698				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDP info	1139	Hs.511772			Am J Psychiatry    2006    163(10)    1832-4	"Episodic memory performance predicted by the 2bp deletion in exon 6 of the ""alpha 7-like"" nicotinic receptor subunit gene "		118511		CDC	2006	These observations indicate that episodic memory function is a schizophrenia endophenotype and implicate the CHRFAM7A/CHRNA7 locus in modulating its function.											
145545	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	15	15q14	CHRNA7	30110017	30248527		Iwata, Y.  et al. 2006	17113175				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDP info	1139	Hs.511772			Neurosci Res    2006	Linkage disequilibrium analysis of the CHRNA7 gene and its partially duplicated region in schizophrenia		118511		CDC	2006	our LD analysis did not reveal any association between schizophrenia in our Han Chinese population and the CHRNA7 gene or its partially duplicated region.											
145546	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15	15q14	CHRNA7	30110017	30248527		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDP info	1139	Hs.511772			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118511		CDC	2007												
145547		cognitive function	PSYCH	PSY		15	15q14	CHRNA7	30110017	30248527		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000746.3			CDC GDP info	1139	Hs.511772			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118511		CDC	2007			smoking (tobacco)									
145548	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	4	4p14	CHRNA9	40032225	40051730		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017581.2			CDC GDP info	55584	Hs.272278			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		605116		CDC	2007												
145549		cognitive function	PSYCH	PSY		4	4p14	CHRNA9	40032225	40051730		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, alpha polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017581.2			CDC GDP info	55584	Hs.272278			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		605116		CDC	2007			smoking (tobacco)									
145550	Y	nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17p13.1	CHRNB1	7289129	7301656		Lou, X. Y.  et al. 2006	16874522				Cholinergic receptor, nicotinic, beta 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC023553	European		CDC GDP info	1140	Hs.330386			Hum Genet    2006    120(3)    381-9	Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence		100710		CDC	2006												
145551	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17p13.1	CHRNB1	7289129	7301656		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, beta 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC023553			CDC GDP info	1140	Hs.330386			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		100710		CDC	2007												
145552		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q21.3	CHRNB2	152806880	152818977		De Luca, V.  et al. 2006	16636791				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1	Canadian		CDC GDP info	1141	Hs.591493			Exp Brain Res    2006	Genetic interaction between alpha4 and beta2 subunits of high affinity nicotinic receptor		118507		CDC	2006												
145554	Y	alcohol-related phenotypes nicotine	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders|Alcoholism|Tobacco Use Disorder	1	1q21.3	CHRNB2	152806880	152818977		Ehringer, M. A.  et al. 2007	17226798				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1	Caucasian		CDC GDP info	1141	Hs.591493			Am J Med Genet B Neuropsychiatr Genet    2007	Association of the neuronal nicotinic receptor beta2 subunit gene (CHRNB2) with subjective responses to alcohol and nicotine		118507		CDC	2007												
145555	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	1	1q21.3	CHRNB2	152806880	152818977		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDP info	1141	Hs.591493			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118507		CDC	2007												
145556	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	1	1q21.3	CHRNB2	152806880	152818977		Lee, C. C.  et al. 2007	17385675				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDP info	1141	Hs.591493			J Clin Lab Anal    2007    21(2)    67-70	Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits		118507		CDC	2007												
145558		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	8	8p11.2	CHRNB3	42671718	42711366		Saccone, S. F.  et al. 2006	17135278				Cholinergic receptor, nicotinic, beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000749.3			CDC GDP info	1142	Hs.96094			Hum Mol Genet    2006	Cholinergic Nicotinic Receptor Genes Implicated in a Nicotine Dependence Association Study Targeting 348 Candidate Genes with 3,713 SNPs		118508		CDC	2006												
145559		nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	8	8p11.2	CHRNB3	42671718	42711366		Bierut, L. J.  et al. 2007	17158188				Cholinergic receptor, nicotinic, beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000749.3			CDC GDP info	1142	Hs.96094			Hum Mol Genet    2007    16(1)    24-35	Novel genes identified in a high-density genome wide association study for nicotine dependence		118508		CDC	2007												
145560	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	8	8p11.2	CHRNB3	42671718	42711366		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000749.3			CDC GDP info	1142	Hs.96094			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118508		CDC	2007												
145563	N	multiple sclerosis narcolepsy rheumatoid arthritis Wegener's granulomatosis	IMMUNE	IMM	Arthritis, Rheumatoid|Arthritis, Juvenile Rheumatoid|Wegener Granulomatosis|Multiple Sclerosis|Narcolepsy|Autoimmune Diseases|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341			16426246	CIITA -168A>G		promoter	class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	German		CDC GDP info	4261	Hs.126714			Int J Immunogenet    2006    33(1)    59-61	Promoter polymorphism rs3087456 in the MHC class II transactivator gene is not associated with susceptibility for selected autoimmune diseases in German patient groups		600005		CDC	2006												
145564	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Yazdani-Biuki, B.  et al. 2006	16776848	MHC2TA -168A>G			class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDP info	4261	Hs.126714			Arthritis Res Ther    2006    8(4)    R97	The MHC2TA -168A>G gene polymorphism is not associated with rheumatoid arthritis in Austrian patients		600005		CDC	2006												
145565	Y	Addison's disease	IMMUNE	IMM	Adrenal Insufficiency|Autoimmune Diseases|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Ghaderi, M.  et al. 2006	16849401				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDP info	4261	Hs.126714			J Clin Endocrinol Metab    2006	MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency		600005		CDC	2006	Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes.											
145566	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Harrison, P.  et al. 2006	16920747			promoter	class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	Swedish;Caucasian		CDC GDP info	4261	Hs.126714			Rheumatology (Oxford)    2006	MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients		600005		CDC	2006	We did not confirm the previously reported association of this MHC2TA polymorphism with RA in our UK population despite its ethnic similarities with the Swedish population in which it was first described.											
145567		cirrhosis hepatitis B liver cancer	CANCER	CAN	Hepatitis B, Chronic	16	16p13	CIITA	10878557	10926341		He, Y.  et al. 2006	16996793			promoter	class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDP info	4261	Hs.126714			J Clin Virol    2006	Not polymorphism but methylation of class II transactivator gene promoter IV associated with persistent HBV infection		600005		CDC	2006	CIITA gene promoter sequences are conserved.											
145568	Y	multiple sclerosis rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Colitis, Ulcerative|Crohn Disease|Multiple Sclerosis|Autoimmune Diseases|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Martinez, A.  et al. 2006	17012290	CIITA  (-168A/G, rs3087456)			class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	Spanish;European		CDC GDP info	4261	Hs.126714	protective haplotype (-168A/1614C, p = 0.006; odds ratio (OR) 0.7)  risk haplotype (-168G/1614C, p = 0.019; OR 1.6).		Ann Rheum Dis    2006	Role of the MHC2TA gene in autoimmune diseases	rs3087456	600005		CDC	2006	The MHC2TA gene influences predisposition to rheumatoid arthritis and multiple sclerosis, but not to inflammatory bowel disease.											
145569	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	16	16p13	CIITA	10878557	10926341		Eyre, S.  et al. 2006	17075826				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	Swedish;Caucasian; European		CDC GDP info	4261	Hs.126714			Arthritis Rheum    2006    54(11)    3417-3422	Investigation of the MHC2TA gene, associated with rheumatoid arthritis in a Swedish population, in a UK rheumatoid arthritis cohort		600005		CDC	2006												
145570	N	rheumatoid arthritis thyroid disease, autoimmune	IMMUNE	IMM	Arthritis, Rheumatoid|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	16	16p13	CIITA	10878557	10926341		Newman, W. G.  et al. 2006	17133579				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2	Japanese;Canadian;Caucasian		CDC GDP info	4261	Hs.126714			Arthritis Rheum    2006    54(12)    3820-3827	Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population		600005		CDC	2006	Our findings support an association of RA with an FCRL3 functional polymorphism and reveal that this association is stronger in the absence of PTPN22 risk genotypes.											
145572		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	16	16p13	CIITA	10878557	10926341		Macaluso, F.  et al. 2007	17620097				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDP info	4261	Hs.126714			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis		600005		CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
145573		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	15	15q22	CILP	63275396	63290864		Valdes, A. M.  et al. 2006	16453284				Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003613		Great Britain	CDC GDP info	8483	Hs.442180			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		603489		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
145574	Y	endurance performance	NORMALVARIATION	NV	Body Weight	19	19q13.2-q13.3	CKM	50501510	50517974		Duoqi, Z.  et al. 2006	17000714				Creatine kinase, muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001824.2			CDC GDP info	1158	Hs.334347			Br J Sports Med    2006	CKMM Gene Polymorphism and Running Economy responses to a 18-week 5000 m training program		123310		CDC	2006	The findings indicate that the CKMM gene polymorphism may contribute to individual running economy responses to endurance training.											
145576		heart rate hypertension renin activity	CARDIOVASCULAR	CARD	Hypertension	1	1p36	CLCNKA	16217956	16233132		Barlassina, C.  et al. 2007	17510212				Chloride channel Ka	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC053869			CDC GDP info	1187	Hs.591533			Hum Mol Genet    2007	Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension		602024		CDC	2007			sodium									
145577	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36	CLCNKB	16221072	16256063		Kokubo, Y.  et al. 2006	17137217				Chloride channel Kb	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000085.1			CDC GDP info	1188	Hs.352243			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		602023		CDC	2006												
145579		heart rate hypertension renin activity	CARDIOVASCULAR	CARD	Hypertension	1	1p36	CLCNKB	16221072	16256063		Barlassina, C.  et al. 2007	17510212				Chloride channel Kb	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000085.1			CDC GDP info	1188	Hs.352243			Hum Mol Genet    2007	Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension		602023		CDC	2007			sodium									
145580		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	3	3p22-p21.3	CLEC3B	45042773	45052567		Valdes, A. M.  et al. 2006	16453284				C-type lectin domain family 3, member B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749292		Great Britain	CDC GDP info	7123	Hs.476092			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women				CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
145581		hepatitis C	INFECTION	INF	Hepatitis C	19	19p13	CLEC4M	7734080	7740491		Nattermann, J.  et al. 2006	16364081				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3			CDC GDP info	10332	Hs.421437			J Viral Hepat    2006    13(1)    42-6	The tandem-repeat polymorphism of the DC-SIGNR gene in HCV infection		605872		CDC	2006												
145582		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	19	19p13	CLEC4M	7734080	7740491		Liu, H.  et al. 2006	16453266				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3			CDC GDP info	10332	Hs.421437			J Infect Dis    2006    193(5)    698-702	Repeat-Region Polymorphisms in the Gene for the Dendritic Cell-Specific Intercellular Adhesion Molecule-3-Grabbing Nonintegrin-Related Molecule		605872		CDC	2006												
145583	P		NORMALVARIATION	NV	Disease Susceptibility	19	19p13	CLEC4M	7734080	7740491		Boily-Larouche, G.  et al. 2007	17509452				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3	Canadian;Caucasian		CDC GDP info	10332	Hs.421437			Hum Immunol    2007    68(6)    523-530	DC-SIGN and DC-SIGNR genetic diversity among different ethnic populations		605872		CDC	2007												
145585	Y	depression sleep disorders	PHARMACOGENOMIC	PHARM	Sleep Initiation and Maintenance Disorders|Mood Disorders	4	4q12	CLOCK	55993416	56107754		Serretti, A.  et al. 2005	15952199				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Am J Med Genet B Neuropsychiatr Genet    2005    137(1)    36-9	Insomnia improvement during antidepressant treatment and CLOCK gene polymorphism		601851		CDC	2005	our findings may suggest that CLOCK genotype influences the time course of insomnia during antidepressant treatment.		fluvoxamine paroxetine pindolol									
145586	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	4	4q12	CLOCK	55993416	56107754			16528748				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		601851		CDC	2006												
145587		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease|Paranoid Disorders	4	4q12	CLOCK	55993416	56107754		Malison, R. T.  et al. 2006	17106427				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Psychiatr Genet    2006    16(6)    245-249	Human clock, PER1 and PER2 polymorphisms		601851		CDC	2006												
145589		sleep disorders	PHARMACOGENOMIC	PHARM	Sleep Initiation and Maintenance Disorders|Bipolar Disorder|Depressive Disorder	4	4q12	CLOCK	55993416	56107754		Benedetti, F.  et al. 2007	17221848				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Am J Med Genet B Neuropsychiatr Genet    2007	Actimetric evidence that CLOCK 3111 T/C SNP influences sleep and activity patterns in patients affected by bipolar depression		601851		CDC	2007			lithium									
145590	N	seasonal affective disorder	PSYCH	PSY	Seasonal Affective Disorder	4	4q12	CLOCK	55993416	56107754		Paik, J. W.  et al. 2007	17239050				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2	Korean	Korea	CDC GDP info	9575	Hs.436975			Psychiatry Clin Neurosci    2007    61(1)    124-6	CLOCK gene 3111C/T polymorphism is not associated with seasonal variations in mood and behavior in Korean college students		601851		CDC	2007												
145591	N	autism	PSYCH	PSY	Autistic Disorder	4	4q12	CLOCK	55993416	56107754		Nicholas, B.  et al. 2007	17264841				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Mol Psychiatry    2007	Association of Per1 and Npas2 with autistic disorder		601851		CDC	2007												
145592		circadian variability	OTHER	OTH		4	4q12	CLOCK	55993416	56107754		Pedrazzoli, M.  et al. 2007	17364575				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Chronobiol Int    2007    24(1)    1-8	Clock polymorphisms and circadian rhythms phenotypes in a sample of the brazilian population		601851		CDC	2007												
145593		neuropsychological performance	PSYCH	PSY		4	4q12	CLOCK	55993416	56107754		Benedetti, F.  et al. 2007	17428266				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Genes Brain Behav    2007	Clock genes beyond the clock		601851		CDC	2007												
145594	Y	anorexia nervosa bulimia	PSYCH	PSY	Genetic Predisposition to Disease|Body Weight|Anorexia Nervosa|Bulimia Nervosa	4	4q12	CLOCK	55993416	56107754		Tortorella, A.  et al. 2007	17516548				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Am J Med Genet B Neuropsychiatr Genet    2007	The 3111T/C polymorphism of the CLOCK gene confers a predisposition to a lifetime lower body weight in patients with anorexia nervosa and bulimia nervosa		601851		CDC	2007												
145595		esophageal cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Esophageal Neoplasms	4	4q12	CLOCK	55993416	56107754		Okuno, T.  et al. 2007	17551301				Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Am J Clin Oncol    2007    30(3)    252-7	Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese		601851		CDC	2007	The prognostic index may allow predictions of the clinical outcome of a 5-FU/CDDP-based CRT in stage II/III ESCC patients.		5-flurouracil cisplatin physical activity radiation									
145597	Y	peptic ulcer stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Sugimoto, M.  et al. 2006	17035401				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2		Japan	CDC GDP info	1215	Hs.135626			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1929-34	Influences of chymase and Angiotensin I-converting enzyme gene polymorphisms on gastric cancer risks in Japan		118938		CDC	2006	The CMA/B polymorphism was associated with an increased risk for gastric cancer and gastric ulcer development. The genotyping test of the renin-angiotensin system could be useful for the screening of individuals with higher risks of gastric cancer and gastric ulcer.											
145600	N	atherosclerosis, coronary longevity	CARDIOVASCULAR	CARD	Coronary Disease	18	18q22.3	CNDP1	70352671	70403241		Zschocke, J.  et al. 2006	16965804				Carnosine dipeptidase 1 (metallopeptidase M20 family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032649.5	German		CDC GDP info	84735	Hs.400613			Mech Ageing Dev    2006	Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease				CDC	2006												
145602		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q21	CNP	37372284	37383280		Georgieva, L.  et al. 2006	16891421				2',3'-cyclic nucleotide 3' phosphodiesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033133.4			CDC GDP info	1267	Hs.273621			Proc Natl Acad Sci U S A    2006    103(33)    12469-74	Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia		123830		CDC	2006												
145603		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q21	CNP	37372284	37383280		Usui, H.  et al. 2006	17010574				2',3'-cyclic nucleotide 3' phosphodiesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033133.4			CDC GDP info	1267	Hs.273621			Schizophr Res    2006    88(1-3)    245-50	The 2',3'-cyclic nucleotide 3'-phosphodiesterase and oligodendrocyte lineage transcription factor 2 genes do not appear to be associated with schizophrenia in the Japanese population		123830		CDC	2006												
145604		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q21	CNP	37372284	37383280		Tang, F.  et al. 2007	17306456				2',3'-cyclic nucleotide 3' phosphodiesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033133.4	Chinese;Caucasian		CDC GDP info	1267	Hs.273621			Neurosci Lett    2007	Case-control association study of the 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP) gene and schizophrenia in the Han Chinese population		123830		CDC	2007												
145605		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		6	6q14-q15	CNR1	88906303	88932281		Comings, D. E.  et al. 2000	11140838				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDP info	1268	Hs.75110			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		114610		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145606		substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q14-q15	CNR1	88906303	88932281		Herman, A. I.  et al. 2006	16741937			promoter	Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	European		CDC GDP info	1268	Hs.75110			Am J Med Genet B Neuropsychiatr Genet    2006    141(5)    499-503	Association study of the CNR1 gene exon 3 alternative promoter region polymorphisms and substance dependence		114610		CDC	2006												
145608		cannabis dependence	CHEMDEPENDENCY	CHEM	Marijuana Abuse	6	6q14-q15	CNR1	88906303	88932281		Hopfer, C. J.  et al. 2006	16917946				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDP info	1268	Hs.75110			Am J Med Genet B Neuropsychiatr Genet    2006	Cannabis receptor haplotype associated with fewer cannabis dependence symptoms in adolescents		114610		CDC	2006												
145610	N	obesity	METABOLIC	MET	Obesity	6	6q14-q15	CNR1	88906303	88932281		Muller, T. D.  et al. 2007	17292652				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	German		CDC GDP info	1268	Hs.75110			Mol Genet Metab    2007	No evidence for an involvement of variants in the cannabinoid receptor gene (CNR1) in obesity in German children and adolescents		114610		CDC	2007	there is no evidence for an association of CNR1 alleles with obesity in our study groups.											
145611	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	6	6q14-q15	CNR1	88906303	88932281		Russo, P.  et al. 2007	17405839				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	European		CDC GDP info	1268	Hs.75110			J Clin Endocrinol Metab    2007	Genetic variations at the endocannabinoid type 1 receptor gene (CNR1) are associated with obesity phenotypes in men		114610		CDC	2007	Genetic variants at CNR1 are associated with obesity-related phenotypes in men. The detection of polymorphic variants in genes involved in the process of fat accumulation may help identify specific targets for pharmacological treatment of obesity and related metabolic abnormalities.											
145612		antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	6	6q14-q15	CNR1	88906303	88932281		Hoenicka, J.  et al. 2007	17449448				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		Spain	CDC GDP info	1268	Hs.75110			Neurotox Res    2007    11(1)    51-60	Association in alcoholic patients between psychopathic traits and the additive effect of allelic forms of the CNR1 and FAAH endocannabinoid genes, and the 3' region of the DRD2 gene		114610		CDC	2007												
145613		alcohol craving cue-reactivity	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q14-q15	CNR1	88906303	88932281		van den Wildenberg, E.  et al. 2007	17508995				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDP info	1268	Hs.75110			Addict Biol    2007    12(2)    210-20	Polymorphisms of the dopamine D4 receptor gene (DRD4 VNTR) and cannabinoid CB1 receptor gene (CNR1) are not strongly related to cue-reactivity after alcohol exposure		114610		CDC	2007												
145614	Y	alcohol abuse drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Genetic Predisposition to Disease	6	6q14-q15	CNR1	88906303	88932281		Zuo, L.  et al. 2007	17509535				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3	African American;European		CDC GDP info	1268	Hs.75110			Biol Psychiatry    2007	CNR1 Variation Modulates Risk for Drug and Alcohol Dependence		114610		CDC	2007	We demonstrate that CNR1 variation and interactive effects play important roles in risk for both DD and AD.											
145616	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.11	CNR2	24073046	24112404		Yamada, Y.  et al. 2007	17334644				Cannabinoid receptor 2 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001841.1		Japan	CDC GDP info	1269	Hs.73037			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		605051		CDC	2007												
145617	Y	bone density	METABOLIC	MET	Genetic Predisposition to Disease	1	1p36.11	CNR2	24073046	24112404		Yamada, Y.  et al. 2007	17390085				Cannabinoid receptor 2 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001841.1			CDC GDP info	1269	Hs.73037			Int J Mol Med    2007    19(5)    791-801	Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men		605051		CDC	2007												
145618	Y	muscle testing	AGING	AGE		11	11q12.2	CNTF	58146720	58149778		Arking, D. E.  et al. 2006	16696750				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2	Caucasian		CDC GDP info	1270	Hs.632114			J Am Geriatr Soc    2006    54(5)    823-6	Variation in the ciliary neurotrophic factor gene and muscle strength in older caucasian women		118945		CDC	2006	Individuals homozygous for the CNTF null allele had significantly lower grip strength but did not exhibit overt frailty.											
145619	Y	depression	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder|Depressive Disorder, Major	11	11q12.2	CNTF	58146720	58149778		Grunblatt, E.  et al. 2006	16797081				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDP info	1270	Hs.632114			J Affect Disord    2006	"Association study of BDNF and CNTF polymorphism to depression in non-demented subjects of the ""VITA"" study "		118945		CDC	2006	These results call in question the hypothesis that either BDNF or CNTF can be used as molecular markers for depression or late onset depression in the elderly.											
145621	Y	muscle testing	NORMALVARIATION	NV		11	11q12.2	CNTF	58146720	58149778		De Mars, G.  et al. 2007	17272411				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDP info	1270	Hs.632114			J Appl Physiol    2007	Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women		118945		CDC	2007												
145622	Y	muscle testing	NORMALVARIATION	NV		9	9p13	CNTFR	34541430	34579722		De Mars, G.  et al. 2007	17272411				Ciliary neurotrophic factor receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147164.1			CDC GDP info	1271	Hs.129966			J Appl Physiol    2007	Polymorphisms in the CNTF and CNTF receptor genes are associated with muscle strength in men and women		118946		CDC	2007												
145624		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	6	6p21.3	COL11A2	33238446	33268223		Virtanen, I. M.  et al. 2007	17471097				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDP info	1302	Hs.390171			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		601868		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
145625	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.3	COL18A1	45649524	45758062		Lourenco, G. J.  et al. 2006	16807676	104NN			Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2			CDC GDP info	80781	Hs.517356			Breast Cancer Res Treat    2006	A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene		120328		CDC	2006												
145627	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	21	21q22.3	COL18A1	45649524	45758062		Balasubramanian, S. P.  et al. 2007	17587451	COL18A1 4349A allele			Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2			CDC GDP info	80781	Hs.517356			BMC Cancer    2007    7(1)    107	Endostatin gene variation and protein levels in breast cancer susceptibility and severity		120328		CDC	2007	The Endostatin 4349A allele is associated with$$$ invasive breast cancer.											
145628		urinary incontinence	OTHER	OTH	Urinary Incontinence, Stress|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Skorupski, P.  et al. 2006	16458627				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			Am J Obstet Gynecol    2006    194(2)    346-50	An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence		120150		CDC	2006	The G-T polymorphism at the Sp1 binding site of the gene encoding alpha-1 chain of type 1 collagen is associated with increased risk of stress urinary incontinence in women.											
145629		aortic stiffness	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	17	17q21.3-q22.1	COL1A1	45616455	45633999			16540720				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			J Appl Physiol    2006    100(4)    1431-2	Influence of fibrillin-1 genotype on aortic stiffness in men		120150		CDC	2006												
145630	N	bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Lau, H. H.  et al. 2006	16622736				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		120150		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
145632	N	bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Li, D. F.  et al. 2006	16864092				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(7)    981-3	Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density.		120150		CDC	2006	COL1A1 Sp1 binding site polymorphism is absent and COL1A2 EcoR1 site polymorphism is not associated with bone mineral density in Chinese of Han nationality.											
145633	Y	betaCL osteocalcin	IMMUNE	IMM	Bone Diseases, Metabolic|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999			17019952				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			Ter Arkh    2006    78(3)    17-20	Relations between VDR3 and COL1A1 genes and markers of bone tissue metabolism in patients with chronic obstructive pulmonary disease		120150		CDC	2006	Testing of VDR3 and COL1A1 genes gives grounds for detection of predisposition to development of pulmonogenic osteopenic syndrome.											
145634	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	17	17q21.3-q22.1	COL1A1	45616455	45633999		Hubacek, J.A. et al. 2006	17100549				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Caucasian		CDC GDP info	1277	Hs.172928			Endocr Regul    2006    40(3)    77-81	GENETIC POLYMORPHISMS OF TGF-beta, PAI-1, AND COL1A-1, AND DETERMINATION OF BONE MINERAL DENSITY IN CAUCASIAN FEMALES		120150		CDC	2006												
145635		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	17	17q21.3-q22.1	COL1A1	45616455	45633999		Goddard, K. A.  et al. 2006	17179726				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		120150		CDC	2006												
145637	Y	bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Jiang, H.  et al. 2007	17303000				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Chinese;Caucasian		CDC GDP info	1277	Hs.172928			Acta Pharmacol Sin    2007    28(3)    375-81	Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families		120150		CDC	2007	Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese.											
145638		bone density	METABOLIC	MET		17	17q21.3-q22.1	COL1A1	45616455	45633999		Yang, T. L.  et al. 2007	17331078				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Caucasian		CDC GDP info	1277	Hs.172928			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		120150		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
145639	N	bone density	METABOLIC	MET		7	7q22.1	COL1A2	93861808	93898480		Li, D. F.  et al. 2006	16864092				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3			CDC GDP info	1278	Hs.489142			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(7)    981-3	Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density.		120160		CDC	2006	COL1A1 Sp1 binding site polymorphism is absent and COL1A2 EcoR1 site polymorphism is not associated with bone mineral density in Chinese of Han nationality.											
145641	P		NORMALVARIATION	NV		7	7q22.1	COL1A2	93861808	93898480		Martinez-Labarga, C.  et al. 2007	17620151				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	European;Asian		CDC GDP info	1278	Hs.489142			Ann Hum Biol    2007    34(4)    425-36	Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya		120160		CDC	2007	Statistical analyses showed that Tuaregs from Libya are located in a intermediate position between south Saharan populations on one side and the Europeans and the Asians on the other.											
145643	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	12	12q13.11-q13.2	COL2A1	46653014	46684552		Valdes, A. M.  et al. 2006	17195216				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3	Japanese;Caucasian	Japan|Great Britain	CDC GDP info	1280	Hs.408182			Arthritis Rheum    2006    56(1)    137-146	Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee		120140		CDC	2006	Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.											
145644		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q36-q37	COL4A3	227737524	227887751		Beaty, T. H.  et al. 2006	16953426				Collagen, type IV, alpha 3 (Goodpasture antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000091.3	Singapore		CDC GDP info	1285	Hs.570065			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		120070		CDC	2006												
145645		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q35-q37	COL4A4	227575670	227737519		Beaty, T. H.  et al. 2006	16953426				Collagen, type IV, alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000092.3	Singapore		CDC GDP info	1286	Hs.591645			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		120131		CDC	2006												
145646	Y	Achilles tendon pathology	OTHER	OTH	Rupture|Genetic Predisposition to Disease	9	9q34.2-q34.3	COL5A1	136673472	136876509		Mokone, G. G.  et al. 2006	16430677				Collagen, type V, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000093	Caucasian		CDC GDP info	1289	Hs.210283			Scand J Med Sci Sports    2006    16(1)    19-26	The COL5A1 gene and Achilles tendon pathology		120215		CDC	2006	The COL5A1 BstUI RFLP is associated with ATP and more specifically, chronic Achilles tendinopathy.											
145647	Y	club foot	DEVELOPMENTAL	DEV		6	6q12-q14	COL9A1	70982528	71069494		Liu, L. Y.  et al. 2007	17548304				Collagen, type IX, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001851.3			CDC GDP info	1297	Hs.590892			Yi Chuan    2007    29(4)    427-32	Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus		120210		CDC	2007												
145649		lumbar disc disease	AGING	AGE	Spinal Diseases|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Seki, S.  et al. 2006	17024315				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3	Japanese;Finnish		CDC GDP info	1298	Hs.418012			J Hum Genet    2006	Association study of COL9A2 with lumbar disc disease in the Japanese population		120260		CDC	2006												
145650		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Virtanen, I. M.  et al. 2007	17471097				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3			CDC GDP info	1298	Hs.418012			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		120260		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
145651	N	disc degeneration, lumbar spine	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	20	20q13.3	COL9A3	60918858	60942956		Higashino, K.  et al. 2006	16586133				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2	Japanese;Finnish		CDC GDP info	1299	Hs.126248			Int Orthop    2006	The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine		120270		CDC	2006												
145652		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	20	20q13.3	COL9A3	60918858	60942956		Virtanen, I. M.  et al. 2007	17471097				Collagen, type IX, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001853.2			CDC GDP info	1299	Hs.126248			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		120270		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
145653		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration|Genetic Predisposition to Disease	2	2p15	COMMD1	61986306	62216709		Wu, Z. Y.  et al. 2006	16649058				Copper metabolism (Murr1) domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG481459		China	CDC GDP info	150684	Hs.468702			J Mol Med    2006    84(5)    438-442	Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease		607238		CDC	2006												
145654	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	19	19p13.1	COMP	18754582	18763114		Valdes, A. M.  et al. 2006	17195216				Cartilage oligomeric matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000095.2	Japanese;Caucasian	Japan|Great Britain	CDC GDP info	1311	Hs.1584			Arthritis Rheum    2006    56(1)    137-146	Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee		600310		CDC	2006	Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.											
145655		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Comings, D. E.  et al. 2000	11140838				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		116790		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145656			NORMALVARIATION	NV		22	22q11.21-q11.23	COMT	18309308	18336530		Hamajima, N.  et al. 2002	12164325				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		116790		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
145658	P		CANCER	CAN	Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Yoshimura, K.  et al. 2003	14634838				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		116790		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
145660		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530			16424823				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Indian		CDC GDP info	1312	Hs.370408			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		116790		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
145661	Y	adenomyosis endometriosis	REPRODUCTION	REP	Endometriosis	22	22q11.21-q11.23	COMT	18309308	18336530			16527884				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Hum Reprod    2006	CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women		116790		CDC	2006	The COMT gene significantly influences the risk of adenomyosis but not endometriosis.											
145663		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Nock, N. L.  et al. 2006	16569655				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDP info	1312	Hs.370408			Carcinogenesis    2006	Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk		116790		CDC	2006												
145664	Y	psychoses	NEUROLOGICAL	NEUR	Alzheimer Disease|Hypotension|Cognition Disorders|Psychotic Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Borroni, B.  et al. 2006	16582043	COMT*H			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Am J Geriatr Psychiatry    2006    14(4)    343-351	Cumulative Effect of COMT and 5-HTTLPR Polymorphisms and Their Interaction With Disease Severity and Comorbidities on the Risk of Psychosis in Alzheimer Disease		116790		CDC	2006	These findings claim for a synergic effect of COMT*H and 5-HTTLPR*S polymorphisms on the risk of psychosis in AD and for their interaction with disease stage and ischemic cardiomyopathy. This study suggests that considering both the genetic background and the environmental correlates might provide new insight for understanding psychosis mechanisms related to AD.		cardiomyopathy	COMT	COMT*H	SLC6A4	SLC6A4  *S					
145665		personality traits	PSYCH	PSY	Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Kim, S. J.  et al. 2006	16584839				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Korean		CDC GDP info	1312	Hs.370408			Neurosci Lett    2006	An association study of catechol-O-methyltransferase and monoamine oxidase A polymorphisms and personality traits in Koreans		116790		CDC	2006												
145666	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Denschlag, D.  et al. 2006	16595228				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDP info	1312	Hs.370408			Fertil Steril    2006    85(2)    462-7	Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas		116790		CDC	2006												
145668		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Corder, E. H.  et al. 2006	16608396				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		116790		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
145669		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	22	22q11.21-q11.23	COMT	18309308	18336530		Goertzel, B. N.  et al. 2006	16610957				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Pharmacogenomics    2006    7(3)    475-83	Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome		116790		CDC	2006	The fact that only 28 out of several million possible SNPs predict whether a person has CFS with 76% accuracy indicates that CFS has a genetic component that may help to explain some aspects of the illness.											
145670		mood pain	PSYCH	PSY	Intervertebral Disk Displacement|Pain|Sciatica|Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Max, M. B.  et al. 2006	16623937				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Mol Pain    2006    2    14	A clinical genetic method to identify mechanisms by which pain causes depression and anxiety		116790		CDC	2006	Genomic analysis of longitudinal studies of pain, depression, and anxiety in patients undergoing pain-relieving surgery may help to identify molecules through which pain alters mood. Detection of alleles with modest-sized effects will require larger cohorts.		pain									
145671		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Onay, V. U.  et al. 2006	16672066				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		116790		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
145672	N	body mass obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight	22	22q11.21-q11.23	COMT	18309308	18336530		Need, A. C.  et al. 2006	16674552				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Ann Hum Genet    2006    70(Pt 3)    293-303	Obesity is Associated with Genetic Variants That Alter Dopamine Availability		116790		CDC	2006												
145674		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Forero, D. A.  et al. 2006	16698101				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Neurosci Res    2006	Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia		116790		CDC	2006												
145675		cognitive function	PSYCH	PSY	Cognition Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Rybakowski, J. K.  et al. 2006	16712949				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatry Res    2006	Performance on the Wisconsin Card Sorting Test in schizophrenia and genes of dopaminergic inactivation (COMT, DAT, NET)		116790		CDC	2006												
145676		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Chang, T. W.  et al. 2006	16713266				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		116790		CDC	2006												
145677		suicide	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		De Luca, V.  et al. 2006	16725119				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Brain Res    2006	Gene-gene interaction between MAOA and COMT in suicidal behavior		116790		CDC	2006												
145678		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Berstein, L.  et al. 2006	16730930				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Maturitas    2006	Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes		116790		CDC	2006	It may be suggested that more aggressive clinically and frequently receptor-negative type II of endometrial cancer is associated with indirect signs of mainly intratumoral hyperproduction of estrogens (excess of CYP19 A6A6 genotype) without their sufficient inactivation into methoxyderivatives that warrants further study.											
145680		bipolar disorder depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	22	22q11.21-q11.23	COMT	18309308	18336530		Mandelli, L.  et al. 2006	16756688				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Italian		CDC GDP info	1312	Hs.370408			Int J Neuropsychopharmacol    2006        1-11	Interaction between serotonin transporter gene, catechol- O -methyltransferase gene and stressful life events in mood disorders		116790		CDC	2006												
145682		pain response	NEUROLOGICAL	NEUR	Acute Disease|Genetic Predisposition to Disease|Pain, Postoperative	22	22q11.21-q11.23	COMT	18309308	18336530		Kim, H.  et al. 2006	16848906				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Mol Pain    2006    2(1)    24	Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans		116790		CDC	2006	These results suggest that the previously reported associations between genetic polymorphisms in the monoamine neurotransmitter systems and the interindividual variability in pain responses cannot be replicated in a clinically relevant pain phenotype.											
145683		urinary estrogen metabolites	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Greenlee, H.  et al. 2006	16850246				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Breast Cancer Res Treat    2006	Variants in estrogen metabolism and biosynthesis genes and urinary estrogen metabolites in women with a family history of breast cancer		116790		CDC	2006												
145684		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Glaser, B.  et al. 2006	16860541				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	European		CDC GDP info	1312	Hs.370408			Schizophr Res    2006	Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility		116790		CDC	2006												
145685		mamographic density	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Warren, R.  et al. 2006	16896040				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	European		CDC GDP info	1312	Hs.370408			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		116790		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
145687	Y	oxidative stress	METABOLIC	MET	Autistic Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		James, S. J.  et al. 2006	16917939				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism		116790		CDC	2006												
145688		schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530			16921721				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(7)    57-63	Dopamine system genes interaction and neurocognitive traits in patients with schizophrenia, their relatives and healthy controls from general population		116790		CDC	2006												
145689		headache	NEUROLOGICAL	NEUR	Headache|Substance-Related Disorders|Chronic Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Cevoli, S.  et al. 2006	16930369				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Eur J Neurol    2006    13(9)    1009-13	A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse		116790		CDC	2006												
145691	Y	eating disorders	PSYCH	PSY	Eating Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Frieling, H.  et al. 2006	16969275				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatr Genet    2006    16(5)    205-8	Association of catecholamine-O-methyltransferase and 5-HTTLPR genotype with eating disorder-related behavior and attitudes in females with eating disorders		116790		CDC	2006	We found associations between the COMT and the 5-HTTLPR polymorphisms and specific clinical, behavioral and attitudinal traits of eating disorders. These polymorphisms may predispose their carriers to exhibit certain symptoms of eating disorders or confer a general risk for more severe forms of these disorders.											
145692	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Van Den Bogaert, A.  et al. 2006	16969276				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatr Genet    2006    16(5)    209-12	No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population		116790		CDC	2006												
145693		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Silva, S. N.  et al. 2006	16969494				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Indian;Portuguese		CDC GDP info	1312	Hs.370408			Oncol Rep    2006    16(4)    781-8	Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD)		116790		CDC	2006			breast feeding									
145694		bone density sex steroid	METABOLIC	MET		22	22q11.21-q11.23	COMT	18309308	18336530		Gorai, I.  et al. 2006	16971197				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Bone    2006	CYP17 and COMT gene polymorphisms can influence bone directly, or indirectly through their effects on endogenous sex steroids, in postmenopausal Japanese women		116790		CDC	2006												
145696		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Nicodemus, K. K.  et al. 2006	17006672				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	German		CDC GDP info	1312	Hs.370408			Hum Genet    2006	Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1		116790		CDC	2006												
145697		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	22	22q11.21-q11.23	COMT	18309308	18336530		Yamaguchi, S.  et al. 2006	17016617				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		116790		CDC	2006												
145698		personality traits	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530			17025189				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Russian		CDC GDP info	1312	Hs.370408			Zh Vyssh Nerv Deiat Im I P Pavlova    2006    56(4)    457-63	Dopamine system genes and personality traits of extraversion and novelty seeking		116790		CDC	2006												
145699		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	22	22q11.21-q11.23	COMT	18309308	18336530		Qian, Q.  et al. 2006	17044099				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		China	CDC GDP info	1312	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2006	Evaluation of potential gene-gene interactions for attention deficit hyperactivity disorder in the Han Chinese population		116790		CDC	2006												
145701		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Samochowiec, J.  et al. 2006	17079080				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Polish		CDC GDP info	1312	Hs.370408			Neurosci Lett    2006	Family-based and case-control study of DRD2, DAT, 5HTT, COMT genes polymorphisms in alcohol dependence		116790		CDC	2006												
145702	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Prata, D. P.  et al. 2006	17106420				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Scottish		CDC GDP info	1312	Hs.370408			Psychiatr Genet    2006    16(6)    229-230	Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes		116790		CDC	2006	we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.											
145704	N	weight gain	PHARMACOGENOMIC	PHARM	Obesity|Genetic Predisposition to Disease|Weight Gain	22	22q11.21-q11.23	COMT	18309308	18336530		Hu, J.  et al. 2006	17135598				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Obesity (Silver Spring)    2006    14(11)    1863-7	No evidence for a major role of polymorphisms during bupropion treatment		116790		CDC	2006	our results do not support a major role for these five candidate genes in weight gain after smoking cessation.		bupropion									
145705	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Kamide, K.  et al. 2007	17143180				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			J Hypertens    2007    25(1)    103-10	Association of genetic polymorphisms of ACADSB and COMT with human hypertension		116790		CDC	2007	Our study suggests the possible involvement of genetic polymorphisms in ACADSB and COMT in essential hypertension in the Japanese population.											
145706		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Pain	22	22q11.21-q11.23	COMT	18309308	18336530		Reyes-Gibby, C. C.  et al. 2006	17156920				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Pain    2006	Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain		116790		CDC	2006												
145707		prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Low, Y. L.  et al. 2006	17176215				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	European	United States	CDC GDP info	1312	Hs.370408			Nutr Cancer    2006    56(1)    31-9	Phytoestrogen exposure, polymorphisms in COMT, CYP19, ESR1, and SHBG genes, and their associations with prostate cancer risk		116790		CDC	2006	were compared with those from 178 healthy men matched by age and date of recruitment.											
145709		brain activation	NEUROLOGICAL	NEUR		22	22q11.21-q11.23	COMT	18309308	18336530		Smolka, M. N.  et al. 2007	17211439				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Mol Psychiatry    2007	Gene-gene effects on central processing of aversive stimuli		116790		CDC	2007												
145710	Y	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	22	22q11.21-q11.23	COMT	18309308	18336530		Tybura, P.  et al. 2006	17217235				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatr Pol    2006    40(5)    913-23	Association of functional genes polymorphisms of key enzymes in the metabolism of biogenic amines with paranoid schizophrenia susceptibility and the influence of these polymorphisms on PANSS results in antipsychotic treatment		116790		CDC	2006												
145712	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Diez-Martin, J.  et al. 2007	17266899				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Spain	CDC GDP info	1312	Hs.370408			Med Clin (Barc)    2007    128(2)    41-4	COMT Val158Met polymorphism and schizophrenia in a series of Spanish patients.		116790		CDC	2007	With the results obtained in this study a possible contribution of the COMT gene in schizophrenia etiopathogenesis cannot be ruled out.											
145714		mamographic density	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Takata, Y.  et al. 2007	17295924				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			BMC Cancer    2007    7(1)    30	Breast density and polymorphisms in genes coding for CYP1A2 and COMT		116790		CDC	2007	The lack of an association between the CYP1A2 genotype and the size of the dense areas suggests an effect on the non-dense, i.e., fatty breast tissue. The discrepancies among studies may be due to differential susceptibility; changes in enzyme activity as a result of the CYP1A2*1F polymorphism may influence breast tissue differently depending on hormonal sta											
145715	N	estrogens	OTHER	OTH		22	22q11.21-q11.23	COMT	18309308	18336530		McCann, S. E.  et al. 2007	17301257				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Cancer Epidemiol Biomarkers Prev    2007    16(2)    256-62	Changes in 2-Hydroxyestrone and 16{alpha}-Hydroxyestrone Metabolism with Flaxseed Consumption		116790		CDC	2007	changes in estrogen metabolism after phytoestrogen exposure differs by hormone metabolizing genotype		flaxseed									
145716		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Jeannot, E.  et al. 2007	17363580				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		116790		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
145718		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Holt, S. K.  et al. 2007	17372243				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian	United States	CDC GDP info	1312	Hs.370408			Cancer Epidemiol Biomarkers Prev    2007    16(3)    481-9	Ovarian cancer risk and polymorphisms involved in estrogen catabolism		116790		CDC	2007												
145719	Y	breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Long, J. R.  et al. 2007	17429315				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Pharmacogenet Genomics    2007    17(5)    331-8	Genetic polymorphisms in estrogen-metabolizing genes and breast cancer survival	rs4646903	116790		CDC	2007	Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women.											
145720		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Zhao, X. M.  et al. 2007	17442187				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Zhonghua Fu Chan Ke Za Zhi    2007    42(2)    116-9	Polymorphism of catechol-O-methyltransferase gene in relation to the risk of endometrial cancer.		116790		CDC	2007	Among the genotypes in women in South China, genotype COMT(Val/Val) is mostly seen, followed by COMT(Val/Met), and COMT(Met/Met) is the least in control group. The endometrial cancer susceptivity of genotype COMT(Val/Val) carriers may be lower than COMT(Met/Met) carriers.											
145721		depressive disorder, major endocrine regulation	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	22	22q11.21-q11.23	COMT	18309308	18336530		Jabbi, M.  et al. 2007	17453062				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Mol Psychiatry    2007    12(5)    483-90	Convergent genetic modulation of the endocrine stress response involves polymorphic variations of 5-HTT, COMT and MAOA		116790		CDC	2007												
145722	N	smoking behavior	PHARMACOGENOMIC	PHARM		22	22q11.21-q11.23	COMT	18309308	18336530		Ton, T. G.  et al. 2007	17466074				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		116790		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
145723		neural reward sensitivity	NEUROLOGICAL	NEUR		22	22q11.21-q11.23	COMT	18309308	18336530		Yacubian, J.  et al. 2007	17483451				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Proc Natl Acad Sci U S A    2007	Gene-gene interaction associated with neural reward sensitivity		116790		CDC	2007												
145725		prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Cunningham, J. M.  et al. 2007	17507624				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		116790		CDC	2007												
145726	Y	suicide	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Kia-Keating, B. M.  et al. 2007	17525973				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2007	Meta-analyses suggest association between COMT, but not HTR1B, alleles, and suicidal behavior		116790		CDC	2007												
145727		breast cancer	CANCER	CAN		22	22q11.21-q11.23	COMT	18309308	18336530		Hu, Z.  et al. 2007	17562079				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			J Cancer Res Clin Oncol    2007	A multigenic study on breast cancer risk associated with genetic polymorphisms of ER Alpha, COMT and CYP19 gene in BRCA1/BRCA2 negative Shanghai women with early onset breast cancer or affected relatives		116790		CDC	2007			menopause									
145728		breast cancer	CANCER	CAN		22	22q11.21-q11.23	COMT	18309308	18336530		Justenhoven, C.  et al. 2007	17588204				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	German		CDC GDP info	1312	Hs.370408			Breast Cancer Res Treat    2007	Breast cancer		116790		CDC	2007			body mass									
145730	Y	schizotypal traits	PSYCH	PSY	Genetic Predisposition to Disease|Schizotypal Personality Disorder|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Ma, X.  et al. 2007	17604122	COMT  Val158Met  rs4680			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatry Res    2007	A quantitative association study between schizotypal traits and COMT, PRODH and BDNF genes in a healthy Chinese population	rs4680	116790		CDC	2007	SNP Val158Met (rs4680) in the COMT gene may be associated with some schizotypal traits in male subjects, but our results are not conclusive.											
145731	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	22	22q11.21-q11.23	COMT	18309308	18336530		Campbell, P. T.  et al. 2007	17606708				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDP info	1312	Hs.370408			Clin Cancer Res    2007    13(13)    3783-8	Cytochrome P450 17A1 and Catechol O-Methyltransferase Polymorphisms and Age at Lynch Syndrome Colon Cancer Onset in Newfoundland		116790		CDC	2007	This study showed that a polymorphism in CYP17 (c.											
145732	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	13	13q14.11	CPB2	45525322	45577212		Biron-Andreani, C.  et al. 2006	17107352				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2			CDC GDP info	1361	Hs.512937			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		603101		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
145733		vein thrombosis, splanchnic	CARDIOVASCULAR	CARD	Budd-Chiari Syndrome|Venous Thrombosis|Budd-Chiari Syndrome|Genetic Predisposition to Disease	13	13q14.11	CPB2	45525322	45577212		de Bruijne, E. L.  et al. 2007	17264944				Carboxypeptidase B2 (plasma, carboxypeptidase U)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001872.2			CDC GDP info	1361	Hs.512937			Thromb Haemost    2007    97(2)    181-5	Genetic variation in thrombin-activatable fibrinolysis inhibitor (TAFI) is associated with the risk of splanchnic vein thrombosis		603101		CDC	2007	genetic variation in the TAFI gene is associated with risk of SVT, suggesting a role for TAFI in the pathogenetic mechanism of SVT.											
145734	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	4	4p16.3	CPLX1	768744	809945		Kishi, T.  et al. 2006	16442780				Complexin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006651			CDC GDP info	10815	Hs.478930			Schizophr Res    2006	No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population				CDC	2006												
145735	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q35.2	CPLX2	175156215	175243629		Kishi, T.  et al. 2006	16442780				Complexin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006650.3			CDC GDP info	10814	Hs.193235			Schizophr Res    2006	No association of complexin1 and complexin2 genes with schizophrenia in a Japanese population		605033		CDC	2006												
145737	Y	pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Down Syndrome|Heart Defects, Congenital|Postoperative Complications	2	2q35	CPS1	211129582	211252076		Canter, J. A.  et al. 2006	17188582	T1405N			Carbamoyl-phosphate synthetase 1, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001875.2			CDC GDP info	1373	Hs.149252			Mitochondrion    2006	Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects		608307		CDC	2006	the CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to increased PAP following surgical repair of congenital cardiac defects in children.											
145738		necrotizing enterocolitis	INFECTION	INF	Enterocolitis, Necrotizing|Genetic Predisposition to Disease	2	2q35	CPS1	211129582	211252076		Moonen, R. M.  et al. 2007	17597649				Carbamoyl-phosphate synthetase 1, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001875.2			CDC GDP info	1373	Hs.149252			Pediatr Res    2007	Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis		608307		CDC	2007												
145740	Y	obesity	METABOLIC	MET	Obesity	11	11q13.1-q13.2	CPT1A	68278663	68365881		Robitaille, J.  et al. 2006	17089095				Carnitine palmitoyltransferase 1A (liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001876.2	Canadian;French		CDC GDP info	1374	Hs.503043			J Mol Med    2006	Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians		600528		CDC	2006	this finding suggests that indices of obesity might be modulated by an interaction between CPT1 variants and fat intake.		diet									
145741	N	diabetes, type 2 hepatic lipid content insulin	METABOLIC	MET	Fatty Liver|Diabetes Mellitus, Type 2|Insulin Resistance	11	11q13.1-q13.2	CPT1A	68278663	68365881		Hirota, Y.  et al. 2007	17445541				Carnitine palmitoyltransferase 1A (liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001876.2			CDC GDP info	1374	Hs.503043			Metabolism    2007    56(5)    656-61	Lack of association of CPT1A polymorphisms or haplotypes on hepatic lipid content or insulin resistance in Japanese individuals with type 2 diabetes mellitus		600528		CDC	2007												
145742	Y	obesity	METABOLIC	MET	Obesity	22	22q13.33	CPT1B	49354155	49364802		Robitaille, J.  et al. 2006	17089095				Choline kinase beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004377.2	Canadian;French		CDC GDP info	1375	Hs.439777			J Mol Med    2006	Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians		601987		CDC	2006	this finding suggests that indices of obesity might be modulated by an interaction between CPT1 variants and fat intake.		diet									
145744	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q32	CR2	205694292	205729863		Wu, H.  et al. 2007	17360460				Complement component (3d/Epstein Barr virus) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001006658.1	Chinese;Caucasian		CDC GDP info	1380	Hs.445757			Proc Natl Acad Sci U S A    2007    104(10)    3961-6	Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus		120650		CDC	2007												
145745	Y	cholesterol, LDL,cholesterol, LDL hypercholesterolemia	METABOLIC	MET	HIV Infections|Hyperlipoproteinemia Type II	1	1q21.3	CRABP2	154936029	154941999		Salazar, J.  et al. 2007	17484622			promoter	Cellular retinoic acid binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001878.2			CDC GDP info	1382	Hs.405662			Clin Chem Lab Med    2007    45(5)    615-20	Association of a polymorphism in the promoter of the cellular retinoic acid-binding protein II gene (CRABP2) with increased circulating low-density lipoprotein cholesterol		180231		CDC	2007	Our results show that the CRABP2 gene, a member of the retinoid signaling pathway, is associated with increased plasma LDL-C concentrations.											
145746		Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome	VISION	VIS	Retinal Degeneration|Retinitis Pigmentosa	1	1q31-q32.1	CRB1	195504030	195714208		Mezer, E.  et al. 2006	16767206				Crumbs homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201253.1			CDC GDP info	23418	Hs.126135			Can J Ophthalmol    2006    41(2)    190-6	Utility of molecular testing for related retinal dystrophies		604210		CDC	2006												
145747		anger expression	PSYCH	PSY	Depressive Disorder, Major	2	2q34	CREB1	208102930	208171815		Perlis, R. H.  et al. 2007	17300755				CAMP responsive element binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004379.2	Caucasian		CDC GDP info	1385	Hs.584750			Biol Psychiatry    2007	Clinical and Genetic Dissection of Anger Expression and CREB1 Polymorphisms in Major Depressive Disorder		123810		CDC	2007	measure of frequency and intensity of anger expression.											
145749	Y	suicide	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	2	2q34	CREB1	208102930	208171815		Perlis, R. H.  et al. 2007	17548750				CAMP responsive element binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004379.2			CDC GDP info	1385	Hs.584750			Arch Gen Psychiatry    2007    64(6)    689-97	Association Between Treatment-Emergent Suicidal Ideation With Citalopram and Polymorphisms Near Cyclic Adenosine Monophosphate Response Element Binding Protein in the STAR*D Study		123810		CDC	2007	Polymorphisms that span CREB1 were associated with treatment-emergent suicidality among men with depression, extending an observation of association with male anger expression in a prior independent cohort. If replicated, this finding would suggest that pharmacogenetic testing could facilitate the identification of the small subset of individuals at greater risk during short-term antidepressant treatment.		citalopram hydrobromide									
145750		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	16	16p13.3	CREBBP	3715056	3870122		Costa, M. D.  et al. 2006	16858508				CREB binding protein (Rubinstein-Taybi syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004380.1	Portuguese		CDC GDP info	1387	Hs.459759			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		600140		CDC	2006												
145751	N	depression	PHARMACOGENOMIC	PHARM		16	16p13.3	CREBBP	3715056	3870122		Wilkie, M. J.  et al. 2007	17460549			splice	CREB binding protein (Rubinstein-Taybi syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004380.1			CDC GDP info	1387	Hs.459759			Pharmacogenet Genomics    2007    17(3)    207-215	A splice site polymorphism in the G-protein beta subunit influences antidepressant efficacy in depression		600140		CDC	2007	These results suggest that inheritance of the GNB3C825T allele may significantly influence antidepressant response and emphasises the potential importance of polymorphisms in genes in signalling cascades activated by commonly prescribed antidepressants.		antidepressants									
145752		osteonecrosis, steroid induced	PHARMACOGENOMIC	PHARM	Femur Head Necrosis	16	16p13.3	CREBBP	3715056	3870122		Fujioka, M.  et al. 2007	17548929				CREB binding protein (Rubinstein-Taybi syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004380.1			CDC GDP info	1387	Hs.459759			Clin Calcium    2007    17(6)    894-900	Genetic analysis for prevention of steroid-induced osteonecrosis of the femoral head.		600140		CDC	2007												
145753		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		8	8q13	CRH	67251172	67253252		Comings, D. E.  et al. 2000	11140838				Corticotropin releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000756.1			CDC GDP info	1392	Hs.75294			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		122560		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145754		depressive disorder, major	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Recurrence|Depressive Disorder, Major	5	5q11.2-q13.3	CRHBP	76284435	76301055		Van Den Eede, F.  et al. 2007	17599466				Corticotropin releasing hormone binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001882.3			CDC GDP info	1393	Hs.115617			Psychiatry Res    2007	Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder		122559		CDC	2007	this study does not provide confirmatory evidence for a role of the CRF-BP gene in the vulnerability for MDD in general. The association between genetic CRF-BP variants and MDD may be sexually dimorphic, but this issue requires further investigation in a larger sample.											
145756	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q12-q22	CRHR1	41217448	41268973		Treutlein, J.  et al. 2006	16550213				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Mol Psychiatry    2006	Genetic association of the human corticotropin releasing hormone receptor 1 (CRHR1) with binge drinking and alcohol intake patterns in two independent samples		122561		CDC	2006												
145757	Y	depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q12-q22	CRHR1	41217448	41268973		Liu, Z.  et al. 2006	16815632				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Neurosci Lett    2006	Association of corticotropin-releasing hormone receptor1 gene SNP and haplotype with major depression		122561		CDC	2006												
145758		depressive disorder, major	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q12-q22	CRHR1	41217448	41268973		Liu, Z.  et al. 2006	17258395				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Neurosci Lett    2006	Association study of corticotropin-releasing hormone receptor1 gene polymorphisms and antidepressant response in major depressive disorders		122561		CDC	2006			fluoxetine									
145759		depression	PSYCH	PSY		17	17q12-q22	CRHR1	41217448	41268973		Wasserman, D.  et al. 2007	17376150				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Genes Brain Behav    2007	The CRHR1 gene		122561		CDC	2007												
145760		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17q12-q22	CRHR1	41217448	41268973		De Luca, V.  et al. 2007	17532191				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Eur Psychiatry    2007	Association study between the corticotropin-releasing hormone receptor 2 gene and suicidality in bipolar disorder		122561		CDC	2007												
145761	Y	alcohol abuse	CHEMDEPENDENCY	CHEM		17	17q12-q22	CRHR1	41217448	41268973		Blomeyer, D.  et al. 2007	17597588				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			Biol Psychiatry    2007	Interaction between CRHR1 Gene and Stressful Life Events Predicts Adolescent Heavy Alcohol Use		122561		CDC	2007	These findings provide first evidence in humans that the CRHR1 gene interacts with exposure to stressful life events to predict heavy alcohol use in adolescents.		stress									
145762	N	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	7	7p15.1	CRHR2	30658724	30706244		Tharmalingam, S.  et al. 2006	16691126				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2			CDC GDP info	1395	Hs.546246			Psychiatr Genet    2006    16(3)    93-97	Lack of association between the corticotrophin-releasing hormone receptor 2 gene and panic disorder		602034		CDC	2006												
145763	Y	personality traits	PSYCH	PSY	Neurotic Disorders	7	7p15.1	CRHR2	30658724	30706244		Tochigi, M.  et al. 2006	16884458				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2		Japan	CDC GDP info	1395	Hs.546246			Psychiatry Clin Neurosci    2006    60(4)    524-6	Association between corticotropin-releasing hormone receptor 2 (CRHR2) gene polymorphism and personality traits		602034		CDC	2006												
145764		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	7	7p15.1	CRHR2	30658724	30706244		De Luca, V.  et al. 2007	17532191				Corticotropin releasing hormone receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001883.2			CDC GDP info	1395	Hs.546246			Eur Psychiatry    2007	Association study between the corticotropin-releasing hormone receptor 2 gene and suicidality in bipolar disorder		602034		CDC	2007												
145765		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	16	16q24.1	CRISPLD2	83411112	83500615		Chiquet, B. T.  et al. 2007	17616516				Cysteine-rich secretory protein LCCL domain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL136861	Hispanic Caucasian		CDC GDP info	83716	Hs.513779			Hum Mol Genet    2007	CRISPLD2				CDC	2007												
145766		left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	20	20p11.2	CRNKL1	19963011	19984690		Rame, J. E.  et al. 2007	17296875				Crooked neck pre-mRNA splicing factor-like 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016652			CDC GDP info	51340	Hs.171342			Hypertension    2007	Corin I555(P568) Allele Is Associated With Enhanced Cardiac Hypertrophic Response to Increased Systemic Afterload		610952		CDC	2007												
145767		C-reactive protein cholesterol, LDL lipoprotein	NEUROLOGICAL	NEUR	Alzheimer Disease|Cardiovascular Diseases	1	1q21-q23	CRP	157948702	157951003		Chasman, D. I.  et al. 2006	16511556				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Caucasian		CDC GDP info	1401	Hs.76452			Genes Immun    2006    7(3)    211-9	Qualitative and quantitative effects of APOE genetic variation on plasma C-reactive protein, LDL-cholesterol, and apoE protein		123260		CDC	2006												
145768		C-reactive protein	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Obesity|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003			16534007				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Circulation    2006	Contribution of Clinical Correlates and 13 C-Reactive Protein Gene Polymorphisms to Interindividual Variability in Serum C-Reactive Protein Level		123260		CDC	2006	In our community-based sample, clinical variables explained 26% of the interindividual variation in CRP, whereas a common triallelic CRP SNP contributed modestly. Studies of larger samples are warranted to assess the association of genetic variation in CRP and risk of cardiovascular disease.											
145769		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	1	1q21-q23	CRP	157948702	157951003		Kardys, I.  et al. 2006	16682383				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2		Netherlands	CDC GDP info	1401	Hs.76452			Eur Heart J    2006    27(11)    1331-7	C-reactive protein gene haplotypes and risk of coronary heart disease		123260		CDC	2006	Steady-state C-reactive protein serum level is influenced by C-reactive protein gene haplotypes. Although elevated C-reactive protein level has lately been found to be a consistent and relatively strong risk factor for cardiovascular disease, our study does not support that the common variation in the C-reactive protein gene has a large effect on the occurre											
145771		atherosclerosis, carotid C-reactive protein	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Wang, Q.  et al. 2006	16731635				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Caucasian		CDC GDP info	1401	Hs.76452			Am J Physiol Heart Circ Physiol    2006	Association Study of CRP Gene Polymorphisms with Serum CRP Level and Cardiovascular Risk in the NHLBI Family Heart Study		123260		CDC	2006												
145772	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Intracranial Arteriosclerosis	1	1q21-q23	CRP	157948702	157951003		Morita, A.  et al. 2006	16733231	CRP  rs1800947			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Am J Hypertens    2006    19(6)    593-600	Association study between C-reactive protein genes and ischemic stroke in Japanese subjects	rs1800947	123260		CDC	2006	The rs1800947 SNP and the C-C-C haplotype in the CRP gene appear to be prognostic markers of ischemic stroke and this polymorphism could be a useful genetic marker.											
145773	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Acute Disease|Inflammation	1	1q21-q23	CRP	157948702	157951003		Balistreri, C. R.  et al. 2006	16803998				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2		Sicily	CDC GDP info	1401	Hs.76452			Ann N Y Acad Sci    2006    1067    276-81	Association between +1059G/C CRP polymorphism and acute myocardial infarction in a cohort of patients from Sicily		123260		CDC	2006												
145774		C-reactive protein stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction	1	1q21-q23	CRP	157948702	157951003		Ladenvall, C.  et al. 2006	16809555				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Stroke    2006	Serum C-Reactive Protein Concentration and Genotype in Relation to Ischemic Stroke Subtype		123260		CDC	2006	This is the first large study on CRP in different TOAST subtypes in a young ischemic stroke population.											
145776	N	C-reactive protein	IMMUNE	IMM	Obesity|Weight Loss	1	1q21-q23	CRP	157948702	157951003		Eklund, C.  et al. 2006	16840032				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Eur Cytokine Netw    2006    17(2)    131-5	Association of the IL6-174(G/C) polymorphism with C-reactive protein concentration after weight loss in obese men		123260		CDC	2006			weight loss									
145777		morbidity mortality	IMMUNE	IMM	Inflammation	1	1q21-q23	CRP	157948702	157951003		Ortlepp, J. R.  et al. 2006	16858645				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Inflammation    2006	Relationship of Five Inflammatory Gene Polymorphisms with Morbidity and Mortality in 533 Patients Admitted to an ICU		123260		CDC	2006	Genotyping of the investigated polymorphism for risk stratification of patients admitted to ICU does not seem to be appropriated.											
145778	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	1	1q21-q23	CRP	157948702	157951003		Thalmaier, D.  et al. 2006	16984505	C allele of the CRP +1059G/C			C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Aliment Pharmacol Ther    2006    24(7)    1105-15	The +1059G/C polymorphism in the C-reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease		123260		CDC	2006	The C allele of the CRP +1059G/C polymorphism is associated with decreased serum CRP levels and increased likelihood of disease involvement of the terminal ileum in CD patients.											
145779	Y	C-reactive protein	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q21-q23	CRP	157948702	157951003		Crawford, D. C.  et al. 2006	17101857				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	NHANES III; Mexican-Americans; non-Hispanic white; non-Hispanic black		CDC GDP info	1401	Hs.76452			Circulation    2006	Genetic Variation Is Associated With C-Reactive Protein Levels in the Third National Health and Nutrition Examination Survey		123260		CDC	2006	Genetic variation within CRP is associated with serum CRP levels in the general population and may be associated with prevalent coronary heart disease.											
145780		inflammatory markers	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Jang, Y.  et al. 2006	17113059				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Korean		CDC GDP info	1401	Hs.76452			Clin Chim Acta    2006	Effect of the 252A>G polymorphism of the lymphotoxin-alpha gene on inflammatory markers of response to cigarette smoking in Korean healthy men		123260		CDC	2006	Our results suggest that the LTA 252A>G polymorphism may modulate the inflammatory effects and oxidative stress of smoking. The detrimental effect of smoking is most clearly seen in men with G/G, suggesting a genotype-specific interaction with smoking.		smoking (tobacco)									
145781	Y	cancer lung cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Colorectal Neoplasms|Lung Neoplasms|Prostatic Neoplasms|Chronic Disease|Inflammation	1	1q21-q23	CRP	157948702	157951003		Siemes, C.  et al. 2006	17114654				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2		Netherlands	CDC GDP info	1401	Hs.76452			J Clin Oncol    2006    24(33)    5216-22	C-reactive protein levels, variation in the C-reactive protein gene, and cancer risk		123260		CDC	2006	Baseline CRP levels seem to be a biomarker of chronic inflammation preceding lung cancer, even after subtracting a 5-year latent period. Furthermore, CRP gene variation associated with low CRP blood levels was relatively common in patients with lung cancer. Both chronic inflammation and impaired defense mechanisms resulting in chronic inflammation might expl											
145782	Y	C-reactive protein Streptococcus pneumoniae	INFECTION	INF	Bacteremia|Escherichia coli Infections|Streptococcal Infections|Pneumococcal Infections|Community-Acquired Infections	1	1q21-q23	CRP	157948702	157951003		Eklund, C.  et al. 2006	17148079				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Scand J Infect Dis    2006    38(11)    1069-73	Polymorphism of the C-reactive protein gene is associated with mortality in bacteraemia		123260		CDC	2006												
145783	N	C-reactive protein cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q21-q23	CRP	157948702	157951003		Zhang, L.  et al. 2007	17185152				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Am J Kidney Dis    2007    49(1)    118-26	C-Reactive protein haplotype predicts serum C-reactive protein levels but not cardiovascular disease risk in a dialysis cohort		123260		CDC	2007	Compared with the most common haplotype of the CRP gene, 1 haplotype predicts a lower serum CRP level over time, but no association exists between haplotype of CRP gene and incident CVD in this incident dialysis population.											
145784		atherosclerosis, coronary C-reactive protein	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis	1	1q21-q23	CRP	157948702	157951003		Yan, M.  et al. 2007	17219082				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Chinese;Caucasian		CDC GDP info	1401	Hs.76452			Biochem Genet    2007	The Relationship between Gene Polymorphism and CRP Level in a Chinese Han Population		123260		CDC	2007												
145785	N	C-reactive protein fibrinogen	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Inflammation	1	1q21-q23	CRP	157948702	157951003		de Maat, M. P.  et al. 2007	17264952				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Thromb Haemost    2007    97(2)    234-9	Genetic variation in estrogen receptor, C-reactive protein and fibrinogen does not predict the plasma levels of inflammation markers after longterm hormone replacement therapy		123260		CDC	2007	higher plasma levels of CRP and lower plasma levels of fibrinogen were observed in women using HRT; however, genetic polymorphisms in ESR1, CRP and FGB were not associated with these effects of HRT.		hormone replacement therapy									
145786		C-reactive protein diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Dehghan, A.  et al. 2007	17327459				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Diabetes    2007    56(3)    872-8	Genetic variation, C-reactive protein levels, and incidence of diabetes		123260		CDC	2007												
145787		C-reactive protein cardiovascular disease risk factors insulin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Insulin Resistance|Genetic Predisposition to Disease|Body Weight	1	1q21-q23	CRP	157948702	157951003		Paik, J. K.  et al. 2006	17335789				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	Korean	Korea	CDC GDP info	1401	Hs.76452			Clin Chim Acta    2006	Additive effect of interleukin-6 and C-reactive protein (CRP) single nucleotide polymorphism on serum CRP concentration and other cardiovascular risk factors		123260		CDC	2006	The present data showed that serum CRP levels and other CVD risk factors appeared more influenced by IL-6-572C>G rather than CRP SNPs (-717G>A, 1444C>T, and 2147A>G), however CRP levels and insulin resistance may be additively affected by IL-6-572 and CRP SNP, particularly when subjects with G/G genotype at IL-6-572 have allele variant at CRP SNPs.											
145788	Y	atherosclerosis, generalized C-reactive protein	CARDIOVASCULAR	CARD		1	1q21-q23	CRP	157948702	157951003		Eklund, C.  et al. 2007	17350021				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Atherosclerosis    2007	C-reactive protein genetics is associated with carotid artery compliance in men in The Cardiovascular Risk in Young Finns Study		123260		CDC	2007												
145789		stroke, ischemic transient ischemic attack	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemic Attack, Transient|Acute Disease|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Ben-Assayag, E.  et al. 2007	17355554				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Eur J Neurol    2007    14(3)    315-20	Triggered C-reactive protein (CRP) concentrations and the CRP gene -717A>G polymorphism in acute stroke or transient ischemic attack		123260		CDC	2007												
145790			CANCER	CAN	Neoplasms|Inflammation	1	1q21-q23	CRP	157948702	157951003		Huang, H. Y.  et al. 2007	17355643				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	African American;Caucasian		CDC GDP info	1401	Hs.76452			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		123260		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
145792	Y	diabetes, type 2 plasminogen activator inhibitor type 1 levels	METABOLIC	MET		1	1q21-q23	CRP	157948702	157951003		Testa, R.  et al. 2007	17433639				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Nutr Metab Cardiovasc Dis    2007	C-reactive protein is directly related to plasminogen activator inhibitor type 1 (PAI-1) levels in diabetic subjects with the 4G allele at position -675 of the PAI-1 gene		123260		CDC	2007	These findings demonstrate that CRP plays an important role in the complex mechanism regulating PAI-1 antigen in 4G diabetic carriers.		c-reactive protein									
145793	N	C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Pua Kikuchi, M.  et al. 2007	17477779				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Asian Pac J Cancer Prev    2007    8(1)    87-92	Associations between Serum C-reactive Protein (CRP) Levels and Polymorphisms of CRP, Interleukin 1B, and Tumor Necrosis Factor Genes among Japanese Health Checkup Examinees		123260		CDC	2007												
145794		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	1	1q21-q23	CRP	157948702	157951003		Ali, S.  et al. 2007	17477815				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		123260		CDC	2007												
145795	Y	cognitive function	PSYCH	PSY	Genetic Predisposition to Disease|Cognition Disorders	1	1q21-q23	CRP	157948702	157951003		Mathew, J. P.  et al. 2007	17498578				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2	European		CDC GDP info	1401	Hs.76452			J Am Coll Cardiol    2007    49(19)    1934-42	Genetic variants in P-selectin and C-reactive protein influence susceptibility to cognitive decline after cardiac surgery		123260		CDC	2007	The results suggest a contribution of P-selectin and CRP genes in modulating susceptibility to cognitive decline after cardiac surgery, with potential implications for identifying populations at risk who might benefit from targeted perioperative antiinflammatory strategies.											
145797	Y	atherosclerosis, coronary C-reactive protein myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	1	1q21-q23	CRP	157948702	157951003		Dai, D. F.  et al. 2007	17561469				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			J Formos Med Assoc    2007    106(5)    347-54	Human C-reactive Protein (CRP) Gene 1059G>C Polymorphism is Associated with Plasma CRP Concentration in Patients Receiving Coronary Angiography		123260		CDC	2007	Our data suggest that human CRP gene 1059 G>C polymorphism is associated with plasma CRP concentration among Chinese in Taiwan receiving coronary angiography.											
145798	Y	arthritis lymphopenia nephritis, lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Jonsen, A.  et al. 2007	17596285				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Rheumatology (Oxford)    2007	Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa genes		123260		CDC	2007												
145799	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p11.2	CRY2	45825604	45861372			16528748				Cryptochrome 2 (photolyase-like)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035161			CDC GDP info	1408	Hs.532491			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		603732		CDC	2006												
145800	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11q22.3-q23.1	CRYAB	111284559	111287683		Stoevring, B.  et al. 2006	17010329			promoter	Crystallin, alpha B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001885.1		Denmark	CDC GDP info	1410	Hs.408767			Clin Chim Acta    2006	CRYAB promoter polymorphisms		123590		CDC	2006	CRYAB polymorphisms may be involved in the pathogenesis of MS by mechanisms that could involve increased expression of the superantigen alphaB-crystallin and modulation of the immune response. CRYAB polymorphisms should be included in future multivariate biomaker studies in MS.											
145802		periodontitis	IMMUNE	IMM	Periodontitis	1	1p21-p13	CSF1	110254979	110273878		Rabello, D.  et al. 2006	16844084				Colony stimulating factor 1 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC021117			CDC GDP info	1435	Hs.591402			Biochem Biophys Res Commun    2006	CSF1 gene associated with aggressive periodontitis in the Japanese population		120420		CDC	2006												
145803	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p21-p13	CSF1	110254979	110273878		Wollmer, M. A.  et al. 2006	17192722				Colony stimulating factor 1 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC021117			CDC GDP info	1435	Hs.591402			Neurodegener Dis    2006    3(6)    334-7	Genetic association study on colony-stimulating factor 1 in Alzheimer's disease		120420		CDC	2006	These data do not support the hypothesis that genetic variability of CSF1 influences the risk for AD.											
145805		myelodysplastic syndrome	OTHER	OTH	Myelodysplastic Syndromes	5	5q33-q35	CSF1R	149413050	149473128		Jekic, B.  et al. 2006	16631474				Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005211.2			CDC GDP info	1436	Hs.483829			Cancer Genet Cytogenet    2006    166(2)    163-5	Lack of TP53 and FMS gene mutations in children with myelodysplastic syndrome		164770		CDC	2006												
145806		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	CSF2	131437383	131439758		Saeki, H.  et al. 2006	16487109				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2		Japan	CDC GDP info	1437	Hs.1349			Clin Exp Dermatol    2006    31(2)    278-80	Analysis of GM-CSF gene polymorphisms (3606T/C and 3928C/T) in Japanese patients with atopic dermatitis		138960		CDC	2006												
145808	N	asthma atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	5	5q31.1	CSF2	131437383	131439758		Kabesch, M.  et al. 2007	17362254				Colony stimulating factor 2 (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000758.2	German	Germany	CDC GDP info	1437	Hs.1349			Allergy    2007    62(4)    423-8	Polymorphisms in eosinophil pathway genes, asthma and atopy		138960		CDC	2007	IL-5 C-746T influenced atopic outcomes and showed evidence for gene by gene interaction. No significant associations were found with all other tested polymorphisms in the eosinophil regulation pathway after correction for multiple testing.											
145809	N	asthma atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	22	22q13.1	CSF2RB	35639620	35666431		Kabesch, M.  et al. 2007	17362254				Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC070085	German	Germany	CDC GDP info	1439	Hs.592192			Allergy    2007    62(4)    423-8	Polymorphisms in eosinophil pathway genes, asthma and atopy		138981		CDC	2007	IL-5 C-746T influenced atopic outcomes and showed evidence for gene by gene interaction. No significant associations were found with all other tested polymorphisms in the eosinophil regulation pathway after correction for multiple testing.											
145811		neutropenia	HEMATOLOGICAL	HEM	Leukemia|Cell Transformation, Neoplastic|Anemia, Aplastic|Myelodysplastic Syndromes|Neutropenia|Chronic Disease|Disease Progression|Disease Susceptibility	1	1p35-p34.3	CSF3R	36704230	36721096		Germeshausen, M.  et al. 2007	16985178				Colony stimulating factor 3 receptor (granulocyte)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000760.2			CDC GDP info	1441	Hs.524517			Blood    2007    109(1)    93-9	Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis		138971		CDC	2007												
145812	N	insulin	METABOLIC	MET	Body Weight	17	17q24.2	CSH1	59303103	59327719		Freathy, R. M.  et al. 2006	17125497				Chorionic somatomammotropin hormone 1 (placental lactogen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001317.3	Caucasian		CDC GDP info	1442	Hs.406754			J Negat Results Biomed    2006    5(1)    18	A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population		150200		CDC	2006	We have not found association of the CSH1.											
145813	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	22	22q13.1	CSNK1E	37016642	37124473			16528748				Casein kinase 1, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152221.2			CDC GDP info	1454	Hs.474833			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		600863		CDC	2006												
145814		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	20	20p11.21	CST3	23556533	23566574		Watanabe, M.  et al. 2006	16443201				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDP info	1471	Hs.304682			Brain Res    2006	Genetic analysis of the cystatin C gene in familial and sporadic ALS patients		604312		CDC	2006												
145815		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Corder, E. H.  et al. 2006	16608402				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDP info	1471	Hs.304682			Rejuvenation Res    2006    9(1)    89-93	Membership in genetic groups predicts Alzheimer disease		604312		CDC	2006												
145817	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Chuo, L. J.  et al. 2007	17310123				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDP info	1471	Hs.304682			Dement Geriatr Cogn Disord    2007    23(4)    251-257	Genotype and Plasma Concentration of Cystatin C in Patients with Late-Onset Alzheimer Disease		604312		CDC	2007	The homozygous CST3A/A genotype confers a risk for AD in Taiwan Chinese. Such an association may be due to the reduced level of cystatin C in the peripheral circulation.											
145818		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	6	6q23.1	CTGF	132311009	132314211		McKnight, A. J.  et al. 2006	16501850				Connective tissue growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001901.2	Irish		CDC GDP info	1490	Hs.591346			J Hum Genet    2006	Resequencing of the characterised CTGF gene to identify novel or known variants, and analysis of their association with diabetic nephropathy		121009		CDC	2006												
145819		morbidity mortality	IMMUNE	IMM	Inflammation	6	6q23.1	CTGF	132311009	132314211		Ortlepp, J. R.  et al. 2006	16858645				Connective tissue growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001901.2			CDC GDP info	1490	Hs.591346			Inflammation    2006	Relationship of Five Inflammatory Gene Polymorphisms with Morbidity and Mortality in 533 Patients Admitted to an ICU		121009		CDC	2006	Genotyping of the investigated polymorphism for risk stratification of patients admitted to ICU does not seem to be appropriated.											
145820	N	biliary atresia	METABOLIC	MET	Biliary Atresia|Disease Susceptibility	6	6q23.1	CTGF	132311009	132314211		Sa-nguanmoo, P.  et al. 2007	17375628			promoter	Connective tissue growth factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001901.2	Thai		CDC GDP info	1490	Hs.591346			J Med Assoc Thai    2007    90(2)    251-7	Analysis of connective tissue growth factor promoter polymorphism in Thai children with biliary atresia		121009		CDC	2007												
145822		arthritis, rheumatoid Sjogren's syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome	2	2q33	CTLA4	204440753	204446928		Kacem, H. H.  et al. 2001	11752507				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Tunisian		CDC GDP info	1493	Hs.247824			Rheumatology (Oxford)    2001    40    1370-4	HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sj?gren's syndrome.		123890		CDC	2001	These data suggest the involvement of HLA-DQ CAR1/CAR2 polymorphisms in genetic susceptibility to RA and SS and the participation of the CTLA-4 gene, or a gene closely associated with it, in the development of RA.											
145823	Y	cardiomyopathy, idiopathic dilated	CARDIOVASCULAR	CARD		2	2q33	CTLA4	204440753	204446928			16405845				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Zhonghua Yi Xue Za Zhi    2005    85(45)    3221-4	Relationship of CTLA-4 exon 1 A49-->G polymorphism with sCTLA-4 and Th1/Th2 bias in idiopathic dilated cardiomyopathy.		123890		CDC	2005	CTLA-4 gene exon 1 A49-->G substitution is associated with an increased IDC genetic susceptibility, which implicates that the CTLA-4 gene may have a significant role in IDC, possibly via a Thr-->Ala change in CTLA-4 signal peptide, with a result of functional change of sCTLA-4. The bias of Th1/Th2 paradigm is associated with the increased sCTLA-4 level under											
145824	Y	atopic dermatitis	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Jones, G.  et al. 2006	16445777				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Br J Dermatol    2006    154(3)    467-71	Polymorphisms within the CTLA4 gene are associated with infant atopic dermatitis		123890		CDC	2006	Polymorphisms within the gene encoding CTLA4 were associated with early onset infant AD.											
145825	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Mohammad Alizadeh, A. H.  et al. 2006	16489681				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			World J Gastroenterol    2006    12(4)    630-5	Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to chronic hepatitis B		123890		CDC	2006	Our results suggest that CTLA-4 gene polymorphisms may partially be involved in the susceptibility to chronic hepatitis B.											
145827	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	2	2q33	CTLA4	204440753	204446928		Lankarani, K. B.  et al. 2006	16509873				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Iranian	Iran	CDC GDP info	1493	Hs.247824			J Gastroenterol Hepatol    2006    21(2)    449-53	Analysis of cytotoxic T lymphocyte associated antigen 4 gene polymorphisms in patients with ulcerative colitis		123890		CDC	2006												
145828	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Wohlfahrt, J. C.  et al. 2006	16512757				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		123890		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
145830	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Sumnik, Z.  et al. 2006	16567828				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	European		CDC GDP info	1493	Hs.247824			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		123890		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
145831	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Cho, H. J.  et al. 2006	16571085				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean		CDC GDP info	1493	Hs.247824			Thyroid    2006    16(3)    237-41	Lack of a genetic association between the ctla-4 gene and graves' disease in koreans		123890		CDC	2006												
145832	Y	cardiomyopathy	CARDIOVASCULAR	CARD		2	2q33	CTLA4	204440753	204446928		Liu, W.  et al. 2006	16604497			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    198-201	The research on associating the single nucleotide polymorphism of CTLA-4 gene promoter region with idiopathic dilated cardiomyopathy.		123890		CDC	2006	Patients with IDC have an aberrant expression of the CTLA-4 products, and the -1772 C/T and -1661 A/G polymorphisms. The two SNPs may function as genetic markers for disease susceptibility.											
145833		Hashimoto's thyroiditis	IMMUNE	IMM	Hashimoto Disease	2	2q33	CTLA4	204440753	204446928		Zaletel, K.  et al. 2006	16611252			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Int J Immunogenet    2006    33(2)    87-91	Thyroid autoantibody production is influenced by exon 1 and promoter CTLA-4 polymorphisms in patients with Hashimoto's thyroiditis		123890		CDC	2006	our results indicate that G allele influences higher TPOAb and TgAb production, whereas C allele affects especially TPOAb production in patients with HT.											
145834		indoleamine-pyrrole 2,3-dioxygenase activity	INFECTION	INF	Helicobacter Infections	2	2q33	CTLA4	204440753	204446928		Raitala, A.  et al. 2006	16620985				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Mol Immunol    2006	Helicobacter pylori-induced indoleamine 2,3-dioxygenase activity in vivo is regulated by TGFB1 and CTLA4 polymorphisms		123890		CDC	2006			Helicobacter pylori									
145835		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Ahmedov, G.  et al. 2006	16629714				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Czech Republic	CDC GDP info	1493	Hs.247824			Pediatr Diabetes    2006    7(2)    88-93	Genetic association of type 1 diabetes in an Azerbaijanian population		123890		CDC	2006	We bring the first report on both HLA, and non-HLA association of T1DM from the majority Azeri population of Azerbaijan.											
145837	Y	pregnancy loss, recurrent	REPRODUCTION	REP		2	2q33	CTLA4	204440753	204446928		Wang, X. P.  et al. 2006	16640877	A/G polymorphism in exon-1 of CTLA-4			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Zhonghua Fu Chan Ke Za Zhi    2006    41(3)    155-8	A/G polymorphism at position 49 in exon 1 of CTLA-4 gene in Chinese women with unexplained recurrent spontaneous abortion.		123890		CDC	2006	The results suggest that A/G polymorphism in exon-1 of CTLA-4 might confer the susceptibility to RSA in Chinese women.											
145838	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Jiang, Y.  et al. 2006	16670525				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		China	CDC GDP info	1493	Hs.247824			Inflamm Bowel Dis    2006    12(5)    369-373	Association of CTLA-4 Gene Microsatellite Polymorphism With Ulcerative Colitis in Chinese Patients		123890		CDC	2006												
145839		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Baniasadi, V.  et al. 2006	16671945			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Indian		CDC GDP info	1493	Hs.247824			Tissue Antigens    2006    67(5)    383-9	Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians		123890		CDC	2006												
145842		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Kula, D.  et al. 2006	16756466				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Thyroid    2006    16(5)    447-53	Interaction of HLA-DRB1 Alleles with CTLA-4 in the Predisposition to Graves' Disease		123890		CDC	2006	Our results stress the importance of complex gene interactions in the multigene predisposition to GD.											
145843	Y	Graves' disease	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Liang, X.  et al. 2006	16767670				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    306-9	Study on association of CTLA4 gene polymorphism with Graveso disease in Guangxi Zhuang nationality population.		123890		CDC	2006	CTLA4 gene microsatellite polymorphism is strongly associated with Graveso disease in Zhuang nationality population of Guangxi province.											
145844	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Dincic, E.  et al. 2006	16769128				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Serbian		CDC GDP info	1493	Hs.247824			J Neuroimmunol    2006	Association of polymorphisms in CTLA-4, IL-1ra and IL-1beta genes with multiple sclerosis in Serbian population		123890		CDC	2006												
145845	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Almasi, S.  et al. 2006	16775619			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Iranian	Iran	CDC GDP info	1493	Hs.247824			Genes Immun    2006	Association of CTLA-4 gene promoter polymorphisms with systemic sclerosis in Iranian population		123890		CDC	2006												
145846		asthma juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Asthma	2	2q33	CTLA4	204440753	204446928		Schubert, K.  et al. 2006	16788246				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Dis Markers    2006    22(3)    127-32	A comprehensive candidate gene study on bronchial asthma and juvenile idiopathic arthritis		123890		CDC	2006												
145847	Y	autoimmune response	IMMUNE	IMM		2	2q33	CTLA4	204440753	204446928		Jonson, C. O.  et al. 2006	16792673				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Clin Exp Immunol    2006    145(1)    48-55	The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children		123890		CDC	2006												
145849	Y	lymphoma	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Lymphoma, B-Cell, Marginal Zone	2	2q33	CTLA4	204440753	204446928		Cheng, T. Y.  et al. 2006	16849765				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Clin Oncol    2006    24(21)    3483-9	Association of T-cell regulatory gene polymorphisms with susceptibility to gastric mucosa-associated lymphoid tissue lymphoma		123890		CDC	2006	These results indicate a genetic link of CTLA4 gene polymorphisms to development of gastric MALT lymphoma and indirectly support the crucial role of host activated T cells in the MALT lymphomagenesis.		Helicobacter pylori									
145850	Y	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression	2	2q33	CTLA4	204440753	204446928		Shao, W.  et al. 2006	16868438				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian		CDC GDP info	1493	Hs.247824			AIDS    2006    20(12)    1583-1590	Cohort- and time-specific associations of CTLA4 genotypes with HIV-1 disease progression		123890		CDC	2006	Association of CTLA4 genotypes with clinical and virological outcomes following HIV-1 infection appeared to vary with time and among the cohorts. Further analyses in conjunction with other biologically and positionally related genes, such as CD28 and ICOS, may help explain the disparate findings.											
145851	Y	Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Disorders of Excessive Somnolence|Urologic Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Downie-Doyle, S.  et al. 2006	16869018				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Australian;Caucasian		CDC GDP info	1493	Hs.247824			Arthritis Rheum    2006    54(8)    2434-2440	Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjogren's syndrome		123890		CDC	2006	The CTLA4 +49G/A and CT60 haplotypes are associated with susceptibility to primary SS and with some extraglandular manifestations of the disease.											
145852		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Favorova, O. O.  et al. 2006	16872485				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Russian		CDC GDP info	1493	Hs.247824			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		123890		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
145853		graves' ophthalmopathy	VISION	VIS	Graves Disease|Graves Ophthalmopathy|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Han, S. Z.  et al. 2006	16893393			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Int J Immunogenet    2006    33(4)    281-287	The common -318C/T polymorphism in the promoter region of CTLA4 gene is associated with reduced risk of ophthalmopathy in Chinese Graves' patients		123890		CDC	2006	results from this study suggested that the -318T allele might play a protective role in GO susceptibility for GD patients at least in the Chinese population. However, extended analyses with larger sample size should be carried out in patients from different ethnic origins to further verify this association.											
145854	Y	Graves' disease ophthalmology	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Han, S.  et al. 2006	16916658				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Hum Immunol    2006    67(8)    618-26	CTLA4 Polymorphisms and Ophthalmopathy in Graves' Disease Patients		123890		CDC	2006	our results suggested that CTLA4 might be involved in the susceptibility to GD in the Chinese population.											
145855	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity	2	2q33	CTLA4	204440753	204446928		Jasek, M.  et al. 2006	16926542				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish	Poland	CDC GDP info	1493	Hs.247824			Int Arch Allergy Immunol    2006    141(3)    223-229	Distribution of CTLA-4 Polymorphisms in Allergic Asthma		123890		CDC	2006	CTLA-4 polymorphisms do not seem to be a risk factor for allergic asthma in Poles.											
145856	N	pemphigus	IMMUNE	IMM	PemphigusGenetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928	012 (range)	Pavoni, D P  et al 2006	16972006			promoter	Cytotoxic T-lymphocyte-associated protein 4	httpwwwncbinlmnihgoventrezviewerfcgidb=nucleotide&val=NM_0052143	Brazilian		CDC GDP info	1493	Hs247824	endemic pemphigus foliaceus (fogo selvagem)		Braz J Med Biol Res    2006    39(9)    1227-32	Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem)		123890		CDC	2006	The CTLA4 -318 (C,T) and 49 (A,G) polymorphisms do not play a major role in pemphigus foliaceus development 	Case-control study 118 patients and 291 controls										
145857		kidney transplant	RENAL	REN		2	2q33	CTLA4	204440753	204446928		Gorgi, Y.  et al. 2006	16980072			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Transplant Proc    2006    38(7)    2303-5	Ctla-4 exon 1 (+49) and promoter (-318) gene polymorphisms in kidney transplantation		123890		CDC	2006												
145858		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	2	2q33	CTLA4	204440753	204446928		Graham, D. C.  et al. 2006	17000707				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Hum Mol Genet    2006	Evidence for Unique Association Signals in SLE at the CD28-CTLA4-ICOS Locus in a Family-Based Study		123890		CDC	2006												
145859		liver transplant	OTHER	OTH		2	2q33	CTLA4	204440753	204446928		Perkins, J. D.  et al. 2006	17004266				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Liver Transpl    2006    12(10)    1552-1556	The influence of CTLA-4 gene polymorphisms on liver transplant outcomes		123890		CDC	2006												
145860	Y	Hashimoto's thryoiditis	IMMUNE	IMM	Thyroiditis, Autoimmune|Hashimoto Disease	2	2q33	CTLA4	204440753	204446928		Kucharska, A.  et al. 2006	17020648				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Polish		CDC GDP info	1493	Hs.247824			Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw    2006    12(3)    163-6	The frequency of CTLA-4 gene polymorphism at position 49 exon 1 in children with Hashimoto's thyroiditis.		123890		CDC	2006	The results confirmed the association between CTLA-4 exon 1 polymorphism (A49G) and Hashimoto\s thyroiditis in polish children.											
145862		diabetes, type 1 thyroid disease, autoimmune	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Ikegami, H.  et al. 2006	17130532				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Japanese;Caucasian;Asian	Japan	CDC GDP info	1493	Hs.247824			Ann N Y Acad Sci    2006    1079    51-59	Genetics of Type 1 Diabetes		123890		CDC	2006												
145863		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Kanazawa, Y.  et al. 2006	17130562				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3		Japan	CDC GDP info	1493	Hs.247824			Ann N Y Acad Sci    2006    1079    251-6	Frequency of CTLA-4 Gene CT60 Polymorphism May Not Be Affected by Vitamin D Receptor Gene Bsm I Polymorphism or HLA DR9 in Autoimmune-Related Type 1 Diabetes in the Japanese		123890		CDC	2006												
145864	Y	kidney transplant	RENAL	REN		2	2q33	CTLA4	204440753	204446928		Gendzekhadze, K.  et al. 2006	17138053	CTLA-4 +49			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		123890		CDC	2006												
145866		lupus erythematosus rheumatoid arthritis thyroid disease, autoimmune	IMMUNE	IMM	Thyroid Diseases|Hashimoto Disease|Autoimmune Diseases|Graves Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Shirasawa, S.  et al. 2006	17154080				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Nippon Rinsho    2006    64(12)    2208-14	Susceptibility genes for the development of autoimmune thyroid disease		123890		CDC	2006												
145867		autoimmunity granulomatous disease lymphoid hyperplasia	IMMUNE	IMM	Autoimmune Diseases|Common Variable Immunodeficiency|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Knight, A. K.  et al. 2006	17192819				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian		CDC GDP info	1493	Hs.247824			J Clin Immunol    2006	CTLA-4 Gene Exon-1 +49 A/G Polymorphism		123890		CDC	2006												
145868	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Payne, F.  et al. 2007	17209142				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Danish		CDC GDP info	1493	Hs.247824			J Leukoc Biol    2007	Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes		123890		CDC	2007												
145869		diabetes, type 1 diabetes, type 2	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Haller, K.  et al. 2007	17257313				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Tissue Antigens    2007    69(2)    121-7	Insulin gene VNTR, CTLA-4 +49A/G and HLA-DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 diabetes group		123890		CDC	2007												
145871		diabetes, autoimmune diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	2	2q33	CTLA4	204440753	204446928		Mayans, S.  et al. 2007	17280620				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian		CDC GDP info	1493	Hs.247824			BMC Med Genet    2007    8(1)    3	CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden		123890		CDC	2007	Association was found between T1D/AITD and all three polymorphisms investigated. However, in contrast to previous investigations, sCTLA-4 RNA and protein expression levels did not differ based on CT60 genotype. Our results do not rule out the CT60 SNP as an important polymorphism in the development of T1D or AITD, but suggest that further investigations are											
145872		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Gunesacar, R.  et al. 2007	17284227				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Turkish		CDC GDP info	1493	Hs.247824			Int J Immunogenet    2007    34(1)    45-9	Analysis of CD28 and CTLA-4 gene polymorphisms in Turkish patients with Behcet's disease		123890		CDC	2007												
145873	Y	Fuchs heterochromic cyclitis	IMMUNE	IMM	Iridocyclitis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Spriewald, B. M.  et al. 2007	17287608				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Ophthalmic Res    2007    39(2)    116-120	A Suggestive Association of Fuchs Heterochromic Cyclitis with Cytotoxic T Cell Antigen 4 Gene Polymorphism		123890		CDC	2007	CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.											
145875		Sjogren's syndrome	IMMUNE	IMM	Sjogren's Syndrome|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Gottenberg, J. E.  et al. 2007	17341301				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian		CDC GDP info	1493	Hs.247824			Arthritis Res Ther    2007    9(2)    R24	CTLA-4 +49A/G and CT60 gene polymorphisms in primary Sjogren syndrome		123890		CDC	2007	might have been made if a replication study had not been performed.											
145876		cervical cancer	CANCER	CAN	Papillomavirus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Su, T. H.  et al. 2007	17341658				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Carcinogenesis    2007	CTLA-4 gene and susceptibility to human papillomavirus 16-associated cervical squamous cell carcinoma in Taiwanese women		123890		CDC	2007			human papillomavirus									
145877		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease	2	2q33	CTLA4	204440753	204446928		Perez-Garcia, A.  et al. 2007	17384200				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Blood    2007	CTLA-4 polymorphisms and clinical outcome after allogeneic stem cell transplantation from HLA-identical sibling donors		123890		CDC	2007												
145878	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Recurrence	2	2q33	CTLA4	204440753	204446928		Wang, P. W.  et al. 2007	17426089	CTLA4 exon1 +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Clin Endocrinol Metab    2007	CTLA-4 gene polymorphism and hyperthyroid Graves' disease relapse after antithyroid drug withdrawal		123890		CDC	2007	This follow-up study confirms the usefulness of the exon1 +49 A/G SNP of the cytotoxic T lymphocyte-associated molecule-4 gene in predicting recurrence after cessation of treatment. There is no additional power by including other polymorphisms to predict recurrence.											
145879	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary	2	2q33	CTLA4	204440753	204446928		Kanno, Y.  et al. 2006	17427759				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Fukushima J Med Sci    2006    52(2)    79-85	Possible association of cytotoxic T lymphocyte antigen-4 genetic polymorphism with liver damage of primary biliary cirrhosis in Japan		123890		CDC	2006												
145881	Y	atopy	IMMUNE	IMM	Pregnancy Complications|Prenatal Exposure Delayed Effects|Hypersensitivity, Immediate|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Yang, K. D.  et al. 2007	17456215	CTLA-4+49A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Clin Exp Allergy    2007    37(5)    680-7	Interaction of maternal atopy, CTLA-4 gene polymorphism and gender on antenatal immunoglobulin E production		123890		CDC	2007	Maternal but not paternal atopy has significant impacts on CBIgE elevation depending on gender and CTLA-4+49A/G polymorphism of newborns. Control of maternal atopy and modulation of CTLA-4 expression in the prenatal stage may be a target for the early prevention of perinatal allergy sensitization.		atopy, maternal									
145883		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Magyari, L.  et al. 2007	17465502				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			World J Gastroenterol    2007    13(15)    2205-8	No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn's disease and ulcerative colitis in Hungarian population samples		123890		CDC	2007	The results of the current study show that carriage of the +49G SNP in heterozygous or in homozygous form does not confer risk either for CD or for UC in the Hungarian population.											
145884		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Sohn, M. H.  et al. 2007	17469155				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Korean	Korea	CDC GDP info	1493	Hs.247824			Pediatr Pulmonol    2007    42(6)    542-547	Cytotoxic T lymphocyte-associated antigen-4 gene polymorphisms confer susceptibility to atopic asthma in Korean children		123890		CDC	2007												
145885	N	cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Donaldson, P.  et al. 2007	17482523				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian		CDC GDP info	1493	Hs.247824			Clin Gastroenterol Hepatol    2007	Cytotoxic T-Lymphocyte-Associated Antigen-4 Single Nucleotide Polymorphisms and Haplotypes in Primary Biliary Cirrhosis		123890		CDC	2007	Contrary to previous reports the CTLA4 gene is not a major risk factor for PBC, nor is it a major determinant of disease progression.											
145886		Graves' disease Hashimoto thyroiditis	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune|Hashimoto Disease	2	2q33	CTLA4	204440753	204446928		Kavvoura, F. K.  et al. 2007	17504905				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Caucasian;Asian		CDC GDP info	1493	Hs.247824			J Clin Endocrinol Metab    2007	CTLA-4 Gene Polymorphisms and Autoimmune Thyroid Disease		123890		CDC	2007	were consistent between Asian and Caucasian descent subjects.											
145887		graves' ophthalmopathy	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bednarczuk, T.  et al. 2007	17521325				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Clin Endocrinol (Oxf)    2007	Susceptibility genes in Graves' ophthalmopathy		123890		CDC	2007												
145888		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Heggarty, S.  et al. 2007	17524498				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Irish		CDC GDP info	1493	Hs.247824			J Neuroimmunol    2007	CTLA4 gene polymorphisms and multiple sclerosis in Northern Ireland		123890		CDC	2007												
145890	N	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Caputo, M.  et al. 2007	17558709				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Immunol Invest    2007    36(3)    259-70	No Evidence of Association of CTLA-4 -318 C/T, 159 C/T, 3' STR and SUMO4 163 AG Polymorphism with Autoimmune Diabetes		123890		CDC	2007												
145891	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q22.2	CTNNA3	67349936	69125933		Bertram, L.  et al. 2007	17209133				Catenin (cadherin-associated protein), alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013266.1			CDC GDP info	29119	Hs.325275			J Med Genet    2007    44(1)    e63	Is alpha-T catenin (VR22) an Alzheimer's disease risk gene?		607667		CDC	2007	This is the first study to report evidence of an association between a potentially functional, non-synonymous SNP in VR22 and the risk for Alzheimer\s disease. As the underlying effects are probably small, and are only seen in families with multiple affected members, the population-wide significance of this finding remains to be determined.											
145893	N	stomach cancer	CANCER	CAN	Stomach Neoplasms	3	3p21	CTNNB1	41216015	41256938		Zheng, H.  et al. 2006	17160944				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			CDC GDP info	1499	Hs.476018			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    647-51	Correlation between gene polymorphisms of Wnt signalling pathway related components and risk of gastric carcinoma		116806		CDC	2006	The above results suggest that the genotypes and alleles of rs3755557 site do not contribute to the risk of gastric carcinoma.											
145894	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17p13	CTNS	3486510	3513146		Kokubo, Y.  et al. 2006	17137217				Cystinosis, nephropathic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004937			CDC GDP info	1497	Hs.187667			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		606272		CDC	2006												
145895	Y	pancreatitis, tropical calcific	IMMUNE	IMM	Pancreatitis, Chronic|Calcinosis|Genetic Predisposition to Disease	8	8p22	CTSB	11737442	11763055		Mahurkar, S.  et al. 2006	16492714				Cathepsin B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001908.3			CDC GDP info	1508	Hs.520898			Gut    2006	Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis		116810		CDC	2006	Our study suggests for the first time that CTSB polymorphisms are associated with TCP.											
145896		cognitive ability	PSYCH	PSY		11	11p15.5	CTSD	1730560	1741798			16417614				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDP info	1509	Hs.121575			Genes Brain Behav    2006    5 Suppl 1    23-31	Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population		116840		CDC	2006												
145897	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798			16543533				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDP info	1509	Hs.121575			J Neurol Neurosurg Psychiatry    2006    77(4)    515-7	Genetic associations between cathepsin D exon 2 C->T polymorphism and Alzheimer's disease, and pathological correlations with genotype		116840		CDC	2006												
145898		tau concentration	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11p15.5	CTSD	1730560	1741798		Riemenschneider, M.  et al. 2006	16652347				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3	Swedish;German		CDC GDP info	1509	Hs.121575			Hum Mutat    2006	The cathepsin D rs17571 polymorphism		116840		CDC	2006												
145899	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11p15.5	CTSD	1730560	1741798		Mariani, E.  et al. 2006	16784755				Cathepsin D (lysosomal aspartyl peptidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001909.3			CDC GDP info	1509	Hs.121575			J Neurol Sci    2006	Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer's disease		116840		CDC	2006												
145901		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	1	1q21	CTSS	148969175	149004929		Cunningham, S.  et al. 2005	16338279				Cathepsin S	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004079			CDC GDP info	1520	Hs.181301			Clin Pharmacol Ther    2005    78(6)    635-46	Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis		116845		CDC	2005	Our work confirms and extends previous indications for a polygenic mechanism involved in bringing about responsiveness to recombinant IFN-beta. The identification of 2 genes active in the antigen processing and presentation cascade; that is, LMP7, coding for the proteasome subunit beta, and CTSS, coding for cathepsin S; as potential response modifiers may identify this pathway as being of particular relevance to phenotypic expression of response heterogeneity.		interferon									
145902	Y	HIV	INFECTION	INF	HIV Infections	11		CUL5	107384617	107483698		An, P.  et al. 2007	17257057				Cullin 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003478.3			CDC GDP info	8065	Hs.440320			PLoS Genet    2007    3(1)    e19	Polymorphisms of CUL5 are associated with CD4+ T cell loss in HIV-1 infected individuals		601741		CDC	2007												
145903		psoriasis	IMMUNE	IMM	Psoriasis	16	16q13	CX3CL1	55963914	55976457		Plant, D.  et al. 2006	17002687				Chemokine (C-X3-C motif) ligand 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209037			CDC GDP info	6376	Hs.531668			Exp Dermatol    2006    15(11)    900-3	The CX3CL1-CX3CR1 system and psoriasis		601880		CDC	2006												
145904	Y	asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16q13	CX3CL1	55963914	55976457		Depner, M.  et al. 2007	17505143				Chemokine (C-X3-C motif) ligand 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209037	German		CDC GDP info	6376	Hs.531668			Int Arch Allergy Immunol    2007    144(1)    91-94	CX3CR1 Polymorphisms Are Associated with Atopy but Not Asthma in German Children		601880		CDC	2007												
145905		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q13	CX3CL1	55963914	55976457		Dimberg, J.  et al. 2007	17611763				Chemokine (C-X3-C motif) ligand 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209037			CDC GDP info	6376	Hs.531668			Int J Colorectal Dis    2007	Polymorphisms of Fractalkine receptor CX3CR1 and plasma levels of its ligand CX3CL1 in colorectal cancer patients		601880		CDC	2007	Our results suggest that the lack of the allele I249 of the CX3CR1 gene may play a partial or minor role in CRC and that plasma Fractalkine/CX3CL1 does not seem to be a useful tumour marker that reflects the disease outcome of CRC.											
145906	Y	restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531			16411402				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Thromb Haemost    2005    94(6)    1251-6	Fractalkine receptor polymorphisms V2491 and T280M as genetic risk factors for restenosis		601470		CDC	2005	the CX3CR1 1249 allele is associated with an increased risk of restenosis while the CX3CR1 M280 allele might counteract the harmful influence of 1249.											
145908	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Genetic Predisposition to Disease|Inflammation	3	3p21	CX3CR1	39279988	39296531		Apostolakis, S.  et al. 2006	16480760	CX3CR1  M280	protective		Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913	protective		Thromb Res    2006	Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease		601470		CDC	2006	The study confers additional data in the field of genetic predisposition to CAD: it confirms the atheroprotective effect of the M280 variant in a completely different population and supports the role of the fractalkine-CX3CR1 pathway in atherosclerosis.											
145909		pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis	3	3p21	CX3CR1	39279988	39296531			16524739				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Cytokine    2006	Polymorphisms in chemokine and chemokine receptor genes and the development of coal workers' pneumoconiosis		601470		CDC	2006												
145910	Y	pulmonary arterial hypertension sclerosis, systemic	CARDIOVASCULAR	CARD		3	3p21	CX3CR1	39279988	39296531		Marasini, B.  et al. 2005	16584113				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Clin Dev Immunol    2005    12(4)    275-9	Polymorphism of the fractalkine receptor CX3CR1 and systemic sclerosis-associated pulmonary arterial hypertension		601470		CDC	2005	the increased frequencies of 249I and 280M CX3CR1 alleles in a subgroup of patients with SSc-associated PAH suggest a role for the fractalkine system in the pathogenesis of this condition. Further, the 249I allele might be associated with susceptibility to SSc.											
145911	Y	respiratory syncytial virus	INFECTION	INF	Bronchiolitis, Viral|Respiratory Syncytial Virus Infections	3	3p21	CX3CR1	39279988	39296531		Amanatidou, V.  et al. 2006	16645504				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Pediatr Infect Dis J    2006    25(5)    410-414	T280M Variation of the CX3C Receptor Gene Is Associated With Increased Risk for Severe Respiratory Syncytial Virus Bronchiolitis		601470		CDC	2006	Our findings support the hypothesis of the pivotal role of the G glycoprotein CX3CR1 pathway in the pathogenesis of RSV bronchiolitis and propose CX3CR1 as a potential therapeutic target.											
145912	Y	intima-media thickness	CARDIOVASCULAR	CARD	Intracranial Arteriosclerosis	3	3p21	CX3CR1	39279988	39296531		Norata, G. D.  et al. 2006	16675737				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Stroke    2006	Effects of Fractalkine Receptor Variants on Common Carotid Artery Intima-Media Thickness		601470		CDC	2006	The presence of the M280 polymorphism of the fractalkine receptor is associated with a decreased common carotid artery IMT, whereas the presence of the I249 polymorphism does not play a major role on the progression of carotid atherosclerosis.											
145913	Y	retinal vascular occlusion	VISION	VIS	Retinal Vasculitis	3	3p21	CX3CR1	39279988	39296531		Wallace, G. R.  et al. 2006	16799040				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Invest Ophthalmol Vis Sci    2006    47(7)    2966-70	A CX3CR1 Genotype Associated with Retinal Vasculitis in Patients in the United Kingdom		601470		CDC	2006	Polymorphisms related to a functional decrease in ligand binding activity of CX3CR1 are associated with disease in U.											
145915		psoriasis	IMMUNE	IMM	Psoriasis	3	3p21	CX3CR1	39279988	39296531		Plant, D.  et al. 2006	17002687				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Exp Dermatol    2006    15(11)    900-3	The CX3CL1-CX3CR1 system and psoriasis		601470		CDC	2006												
145916	N	macular degeneration	VISION	VIS	Macular Degeneration	3	3p21	CX3CR1	39279988	39296531		Bojanowski, C. M.  et al. 2005	17057786				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Trans Am Ophthalmol Soc    2005    103    37-44; discussion 44-5	Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration		601470		CDC	2005	We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.											
145917		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	3	3p21	CX3CR1	39279988	39296531		Tremblay, K.  et al. 2006	17082760				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			Genes Immun    2006	Association study between the CX3CR1 gene and asthma		601470		CDC	2006												
145918		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Disease Progression	4	4q21	CXCL10	77161296	77163674		Galimberti, D.  et al. 2007	17250724				Chemokine (C-X-C motif) ligand 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC010954			CDC GDP info	3627	Hs.632586			Eur J Neurol    2007    14(2)    162-7	CXCL10 haplotypes and multiple sclerosis		147310		CDC	2007												
145919		HIV	INFECTION	INF	HIV Infections|Hemophilia A|Disease Progression	10	10q11.1	CXCL12	44185610	44200548			16206074				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			J Infect Dis    2005    192(9)    1597-605	Stromal cell-derived factor-1 genotype, coreceptor tropism, and HIV type 1 disease progression		600835		CDC	2005												
145922		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548			16529059				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Polish	Poland	CDC GDP info	6387	Hs.522891			Wiad Lek    2005    58(9-10)    500-7	Effects of CCR5-delta32, CCR2-64I and SDF-1-3'A polymorphic alleles on human immunodeficiency virus 1 (HIV-1) infection in the Polish population		600835		CDC	2005												
145923		HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Reiche, E. M.  et al. 2006	16611258				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Brazilian		CDC GDP info	6387	Hs.522891			Int J Immunogenet    2006    33(2)    127-133	Stromal cell-derived factor 1 (SDF1) genetic polymorphism in a sample of healthy individuals, seronegative individuals exposed to human immunodeficiency virus type 1 (HIV-1) and patients infected with HIV-1 from the Brazilian population		600835		CDC	2006												
145924	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Blast Crisis|Acute Disease	10	10q11.1	CXCL12	44185610	44200548		Dommange, F.  et al. 2006	16818471				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			FASEB J    2006	CXCL12 polymorphism and malignant cell dissemination/tissue infiltration in acute myeloid leukemia		600835		CDC	2006	a polymorphism in the SDF-1 gene is shown for the first time to be associated with the clinical presentation of a malignant hematological disease and more generally with the risk of distant tissue infiltration by tumor cells.											
145925		HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Suresh, P.  et al. 2006	16865553				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			J Clin Immunol    2006	Gene Polymorphisms in CCR5, CCR2, CX3CR1, SDF-1 and RANTES in Exposed but Uninfected Partners of HIV-1 Infected Individuals in North India		600835		CDC	2006												
145926	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Reiche, E. M. V. et al. 2006	16964435				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Brazilian	Brazil	CDC GDP info	6387	Hs.522891			Int J Mol Med    2006    18(4)    785-93	The effect of stromal cell-derived factor 1 (SDF1/CXCL12) genetic polymorphism on HIV-1 disease progression		600835		CDC	2006												
145927		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q11.1	CXCL12	44185610	44200548		Dimberg, J.  et al. 2007	17143542				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			Int J Mol Med    2007    19(1)    11-5	Polymorphism and circulating levels of the chemokine CXCL12 in colorectal cancer patients		600835		CDC	2007												
145929	N	liver cancer liver disease	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Nahon, P.  et al. 2007	17413295				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			Eur J Gastroenterol Hepatol    2007    19(5)    425-31	Lack of association of some chemokine system polymorphisms with the risks of death and hepatocellular carcinoma occurrence in patients with alcoholic cirrhosis		600835		CDC	2007	The present study suggests the lack of association of SDF-1 3\A, MCP-1(-2518), CCR5-Delta32 and CCR2-64I polymorphisms with death and hepatocellular carcinoma occurrence in cirrhotic alcoholic patients.											
145931		HIV leukoencephalopathy	INFECTION	INF		10	10q11.1	CXCL12	44185610	44200548		Guerini, F. R.  et al. 2007	17560067				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			Biomed Pharmacother    2007	Analysis of CCR5, CCR2, SDF1 and RANTES gene polymorphisms in subjects with HIV-related PML and not determined leukoencephalopathy		600835		CDC	2007												
145932		HIV	INFECTION	INF	HIV Infections|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Choi, B. S.  et al. 2007	17604544				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			AIDS Res Hum Retroviruses    2007    23(6)    805-11	CCR2b-64I Allelic Polymorphisms in Advanced HIV-Infected Koreans Accelerate Disease Progression		600835		CDC	2007												
145933	Y	sepsis	INFECTION	INF	Sepsis|Disease Susceptibility	4	4q21	CXCL2	75181619	75183776			16421598	CXCL2 tandem repeat promoter polymorphism		promoter	Chemokine (C-X-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR601860		Spain	CDC GDP info	2920	Hs.590921			Genes Immun    2006	A CXCL2 tandem repeat promoter polymorphism is associated with susceptibility to severe sepsis in the Spanish population		139110		CDC	2006												
145934		epithelial neutrophil activating peptide	IMMUNE	IMM	Inflammation	4	4q12-q13	CXCL5	75080222	75083280		Zineh, I.  et al. 2006	16567110				Chemokine (C-X-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002994			CDC GDP info	6374	Hs.89714			Cytokine    2006	CXCL5 gene polymorphisms are related to systemic concentrations and leukocyte production of epithelial neutrophil-activating peptide (ENA-78)		600324		CDC	2006												
145935		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	4	4q12-q13	CXCL5	75080222	75083280		Dimberg, J.  et al. 2007	17549409				Chemokine (C-X-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002994			CDC GDP info	6374	Hs.89714			Int J Oncol    2007    31(1)    97-102	Expression and gene polymorphisms of the chemokine CXCL5 in colorectal cancer patients		600324		CDC	2007												
145936	N	cirrhosis hepatitis B, chronic	INFECTION	INF	Hepatitis B|Disease Progression	2	2q21	CXCR4	136588388	136592195		Cheong, J. Y.  et al. 2007	17596666				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1	Korean		CDC GDP info	7852	Hs.421986			J Korean Med Sci    2007    22(3)    529-35	RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection		162643		CDC	2007												
145938		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Lee, P. L.  et al. 2006	16608528				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		California	CDC GDP info	1535	Hs.513803			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		608508		CDC	2006												
145939	P	albumin excretion rate blood pressure, arterial cholesterol, HDL cholesterol, LDL glucose triglycerides weight	METABOLIC	MET	Hypertension|Hyperinsulinism|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Castejon, A. M.  et al. 2006	16738684				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Japanese;Chinese;Caucasian;Venezuelan		CDC GDP info	1535	Hs.513803			J Hum Hypertens    2006    20(10)    772-9	NAD(P)H oxidase p22phox gene C242T polymorphism, nitric oxide production, salt sensitivity and cardiovascular risk factors in Hispanics		608508		CDC	2006	the prevalence of the NAD(P)H oxidase p22phox gene C242T polymorphism in Venezuelans was comparable to that of Caucasians, but different from that of Chinese and Japanese.											
145940	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Stenosis|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Nasti, S.  et al. 2006	16788250	CYBA  C242T			Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Caucasian;Italian		CDC GDP info	1535	Hs.513803			Dis Markers    2006    22(3)    167-73	C242T Polymorphism in CYBA gene (p22;{phox}) and risk of coronary artery disease in a population of Caucasian Italians		608508		CDC	2006	these results support the increased risk of developing early CAD and of having rapid progression of coronary stenosis in subjects carrying the C242T nucleotide transition among the Italian population.											
145941	Y	hypertension NADPH oxidase activity	CARDIOVASCULAR	CARD	Hypertension	16	16q24	CYBA	87237197	87244958		Moreno, M. U.  et al. 2006	16794479				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			J Hypertens    2006    24(7)    1299-1306	The C242T CYBA polymorphism of NADPH oxidase is associated with essential hypertension		608508		CDC	2006	The C242T CYBA polymorphism is associated with essential hypertension.											
145942	Y	periodontitis	IMMUNE	IMM	Periodontitis	16	16q24	CYBA	87237197	87244958		Nibali, L.  et al. 2006	16899095				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Caucasian		CDC GDP info	1535	Hs.513803			J Clin Periodontol    2006    33(8)    529-39	NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis		608508		CDC	2006	C242T p22phox NADPH oxidase and FcgammaR polymorphisms may predispose to AgP through a modulation of neutrophil superoxide production.											
145943	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Lim, S. C.  et al. 2006	16922713				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Singapore	CDC GDP info	1535	Hs.513803			Diabet Med    2006    23(9)    1037-41	Relationship between common functional polymorphisms of the p22phox gene (-930A > G and +242C > T) and nephropathy as a result of Type 2 diabetes in a Chinese population		608508		CDC	2006	In contrast with previous small studies, our data suggest that these SNPs do not confer significantly increased susceptibility to DN secondary to T2DM in Chinese subjects.											
145944	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q24	CYBA	87237197	87244958		Fan, M.  et al. 2006	16923427	CYBA T allele in the C242T	protective		Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Caucasian;Finnish	Finland	CDC GDP info	1535	Hs.513803	protective		Am Heart J    2006    152(3)    538-42	The p22phox C242T gene polymorphism is associated with a reduced risk of angiographically verified coronary artery disease in a high-risk Finnish Caucasian population. The Finnish Cardiovascular Study		608508		CDC	2006	The T allele in the C242Tpolymorphism of the p22phox gene had a protective effect against the development of CAD despite the exposure of study subjects to risk factors related to excessive NADPH-dependent superoxide production.											
145945		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypertension metabolic syndrome obesity stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Yamada, Y.  et al. 2006	16998253				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2		Japan	CDC GDP info	1535	Hs.513803			Circ J    2006    70(10)    1240-8	Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke		608508		CDC	2006	Identification of gene polymorphisms that confer susceptibility to cardiovascular diseases or stroke and the development of genetic risk diagnosis systems may contribute to the personalized prevention of these conditions.											
145946		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958		Lan, Q.  et al. 2006	17149600				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		608508		CDC	2006												
145947	Y	kidney failure, acute	RENAL	REN	Kidney Failure, Acute	16	16q24	CYBA	87237197	87244958		Perianayagam, M. C.  et al. 2006	17151330				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			J Am Soc Nephrol    2006	NADPH Oxidase p22phox and Catalase Gene Variants Are Associated with Biomarkers of Oxidative Stress and Adverse Outcomes in Acute Renal Failure		608508		CDC	2006												
145948	Y	hypertension vascular aging	CARDIOVASCULAR	CARD		16	16q24	CYBA	87237197	87244958		Kim, K. I.  et al. 2007	17307262				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Korean		CDC GDP info	1535	Hs.513803			Int J Cardiol    2007	Impact of NAD(P)H oxidase p22(phox) gene polymorphism on vascular aging in Korean centenarian and nonagenarian		608508		CDC	2007	These results suggest an association between the p22(phox) C242T polymorphism and vascular aging, which might be mediated by the increase of oxidative stress.											
145949		hypertension	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	16	16q24	CYBA	87237197	87244958		Sales, M. L.  et al. 2007	17314996				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			J Hum Hypertens    2007	Non-effect of p22-phox -930A/G polymorphism on end-organ damage in Brazilian hypertensive patients		608508		CDC	2007												
145951	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		He, M. A.  et al. 2007	17383305				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			Am Heart J    2007    153(4)    640.e1-6	Associations of polymorphism of P22(phox) C242T, plasma levels of vitamin E, and smoking with coronary heart disease in China		608508		CDC	2007	These data provide evidence that P22(phox) genotypes are significantly associated with CHD risk in a Chinese population and suggest potential interactions among smoking, P22(phox) genotypes, and vitamin E in relation to CHD risk.		smoking (tobacco)									
145952		blood pressure, arterial oxidative stress tetralogy of Fallot	CARDIOVASCULAR	CARD	Tetralogy of Fallot	16	16q24	CYBA	87237197	87244958		Guerra, A.  et al. 2007	17445342				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2	Caucasian		CDC GDP info	1535	Hs.513803			Cardiol Young    2007        1-6	Polymorphism C242T of the gene of the p22phox subunit for nicotinamide adenine dinucleotide phosphate oxidase, and erythrocytic antioxidant enzymes, in patients with tetralogy of Fallot		608508		CDC	2007	Patients with tetralogy of Fallot having the CC genotype may be at a higher state of oxidative stress than T allele carriers, a finding which could have prognostic implications.											
145953	Y	vasodilation, flow-mediated	CARDIOVASCULAR	CARD	Hyperemia	16	16q24	CYBA	87237197	87244958		Fan, M.  et al. 2007	17563559				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			J Hypertens    2007    25(7)    1381-1387	CYBA C242T gene polymorphism and flow-mediated vasodilation in a population of young adults		608508		CDC	2007	The C242T polymorphism of the CYBA gene seems to be related to endothelial function in a population-based sample of young healthy adults. Overweight and smoking status may modify this genetic effect.		body mass smoking (tobacco)									
145954	N	atherosclerosis, coronary endothelial function hypercholesterolemia lipids	CARDIOVASCULAR	CARD	Coronary Disease	16	16q24	CYBA	87237197	87244958		Kiliszek, M.  et al. 2007	17617024				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			Clin Chem Lab Med    2007    45(7)    839-42	A1166C polymorphism of the angiotensin AT1 receptor (AT1R) gene alters endothelial response to statin treatment		608508		CDC	2007	The C allele of AT1R A1166C is associated with$$$ significantly lower endothelial response to statin treatment.											
145956		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	X	Xp21.1	CYBB	37524263	37557658		Lee, P. L.  et al. 2006	16608528				Cytochrome b-245, beta polypeptide (chronic granulomatous disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032720		California	CDC GDP info	1536	Hs.292356			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		300481		CDC	2006												
145957		body mass polycystic ovarian syndrome	METABOLIC	MET		15	15q23-q24	CYP11A1	72417156	72447020			16409859			promoter	Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDP info	1583	Hs.303980			Zhonghua Yi Xue Za Zhi    2005    85(48)    3396-400	Microsatellite polymorphism of (tttta) n in the promoter of CYP11a gene in Chinese women with polycystic ovary syndrome.		118485		CDC	2005	The six-repeat allele is the most common fragment of (tttta) n microsatellite polymorphism in Chinese Han woman. The 6//6 genotype is significantly more frequent and is associated with greater BMI in the women with PCOS. The six-repeat allele variant may play a certain role in the pathogenesis of PCOS.											
145959		androgens endometrial cancer estrogens progesterone	CANCER	CAN	Endometrial Neoplasms	15	15q23-q24	CYP11A1	72417156	72447020		Olson, S. H.  et al. 2006	17110639				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDP info	1583	Hs.303980			Am J Epidemiol    2006	Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer		118485		CDC	2006	indicate the need to study other variants and haplotypes in these genes, particularly CYP17A1 and CYP19A1, as well as variants in other genes involved in hormone biosynthesis and metabolism pathways.											
145960		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male	15	15q23-q24	CYP11A1	72417156	72447020		Setiawan, V. W.  et al. 2006	17178901				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1		United States	CDC GDP info	1583	Hs.303980			Cancer Res    2006    66(24)    12019-25	A Systematic Assessment of Common Genetic Variation in CYP11A and Risk of Breast Cancer		118485		CDC	2006												
145961		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q23-q24	CYP11A1	72417156	72447020		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDP info	1583	Hs.303980			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		118485		CDC	2007												
145962		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Yaspan, B. L.  et al. 2007	17575134			promoter	Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDP info	1583	Hs.303980			Cancer Res    2007    67(12)    5673-82	Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk		118485		CDC	2007												
145963	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Bethke, L.  et al. 2007	17615053				Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1			CDC GDP info	1583	Hs.303980			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		118485		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
145964	Y	aldosterone	METABOLIC	MET		8	8q21	CYP11B1	143950774	143958238		Imrie, H.  et al. 2006	16984984				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3	Caucasian		CDC GDP info	1584	Hs.184927			J Clin Endocrinol Metab    2006	ASSOCIATION BETWEEN ALDOSTERONE PRODUCTION AND VARIATION IN THE 11-BETA HYDROXYLASE (CYP11B1) GENE		202010		CDC	2006	Aldosterone synthesis is highly heritable and is affected by genotype at CYP11B1.											
145966	N	aldosterone hypertension	METABOLIC	MET	Hypertension	8	8q21	CYP11B1	143950774	143958238		Iwai, N.  et al. 2007	17296872				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3			CDC GDP info	1584	Hs.184927			Hypertension    2007	Polymorphism of CYP11B2 Determines Salt Sensitivity in Japanese		202010		CDC	2007			renin activity sodium									
145967		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Hypotension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Blanchard, B. E.  et al. 2006	16468060				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Eur J Appl Physiol    2006        1-8	RAAS polymorphisms alter the acute blood pressure response to aerobic exercise among men with hypertension		124080		CDC	2006			physical activity									
145968	N	left ventricular function left ventricular mass	CARDIOVASCULAR	CARD	Ventricular Dysfunction, Left|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Olcay, A.  et al. 2006	16485730				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Turkish		CDC GDP info	1585	Hs.632054			Acta Cardiol    2006    61(1)    29-34	Aldosterone synthase -344C/T and angiotensin-converting enzyme I/D polymorphisms in Turkish hypertensive patients with normal coronary arteries		124080		CDC	2006	Neither ACE I/D nor CYP11B2 -344C/T polymorphisms were useful to predict left ventricular mass, function or dilatation in our hypertensive patients with normal coronary arteries.											
145969	Y	blood pressure, arterial cholesterol	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Russo, P.  et al. 2006	16580565				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Belgian;European;Italian		CDC GDP info	1585	Hs.632054			Am J Hypertens    2006    19(4)    331-8	HindIII(+/-) Polymorphism of the Y Chromosome, Blood Pressure, and Serum Lipids		124080		CDC	2006	Our data do not support the hypothesis that the HindIII(+/-) site of the Y chromosome is a marker of cardiovascular risk in white men, highlighting the need for replication in genetic association studies.											
145970		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Suh, I.  et al. 2006	16615274				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Korean		CDC GDP info	1585	Hs.632054			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		124080		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
145971	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8q21-q22	CYP11B2	143988976	143996261		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		124080		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
145972		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2	8	8q21-q22	CYP11B2	143988976	143996261		Prasad, P.  et al. 2006	16672053				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Indian;Asian	India	CDC GDP info	1585	Hs.632054			BMC Med Genet    2006    7(1)    42	Chronic renal insufficiency among Asian Indians with Type 2 diabetes		124080		CDC	2006	SNPs Met235Thr in angiotensinogen, T>C (-344) in aldosterone synthase, and G>A (-1903) in chymase genes are significantly associated with diabetic chronic renal insufficiency in Indian patients and warrant replication in larger sample sets. Use of such markers for prediction of susceptibility to diabetes specific renal disease in the ethnically Indian popula											
145973	N	nephropathy, diabetic	PHARMACOGENOMIC	PHARM	Diabetic Nephropathies|Albuminuria|Hypertension|Diabetes Mellitus, Type 1	8	8q21-q22	CYP11B2	143988976	143996261		Schjoedt, K. J.  et al. 2006	16714246	CYP11B2 -344T/C			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Scand J Clin Lab Invest    2006    66(3)    173-80	Aldosterone synthase (CYP11B2)-344T/C polymorphism and renoprotective response to losartan treatment in diabetic nephropathy		124080		CDC	2006	Compared to a previous smaller study of angiotensin II receptor blockade in essential hypertension, we could not confirm that CYP11B2 -344T/C genotypes contribute towards explaining the observed variability in response to treatment with angiotensin II receptor blockers, which could be due to lack of power.		losartan									
145974	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Hypertension|Diabetes Mellitus, Type 1|Disease Progression	8	8q21-q22	CYP11B2	143988976	143996261		Lajer, M.  et al. 2006	16759311				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Caucasian		CDC GDP info	1585	Hs.632054			Diabet Med    2006    23(6)    675-80	Aldosterone synthase (CYP11B2) -344T/C polymorphism is not associated with the initiation and progression of diabetic nephropathy in Caucasian Type 1 diabetic patients		124080		CDC	2006												
145975	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Yu, H. M.  et al. 2006	16765146	CYP11B2  -344C/T			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Clin Pharmacol Ther    2006    79(6)    581-589	Associations between CYP11B2 gene polymorphisms and the response to angiotensin-converting enzyme inhibitors		124080		CDC	2006	The -344C/T variant, but not the A6547G variant, of the aldosterone synthase gene may be a determinant of the blood pressure response to angiotensin-converting enzyme inhibitors in hypertensive patients.		ACE inhibitor									
145976		hypertension	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Li, Q.  et al. 2006	16767667				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    294-7	Correlativity between the polymorphisms of aldosterone synthase gene, Hind III restriction site on Y chromosome and essential hypertension.		124080		CDC	2006	The polymorphism of Hind III restriction site on Y chromosome is associated with essential hypertension, and when combined with polymorphism of CYP11B2 -344C/T, may have a united role to increase the risk of suffering from hypertension disease.											
145977	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Hu, B. C.  et al. 2006	16780672	CYP11B2-344T/C			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		China	CDC GDP info	1585	Hs.632054			Zhonghua Nei Ke Za Zhi    2006    45(4)    281-4	Single nucleotide polymorphisms of three candidate genes in essential hypertension.		124080		CDC	2006	Our results indicated that T869C polymorphism of TGF-beta1 gene might be associated with essential hypertension in female, furthermore, the TGF-beta1 T869C and CYP11B2-344T/C polymorphisms appeared to interact in hypertensive population.			TGFB1	TGFB1 T869C	CYP11B2	CYP11B2-344T/C					
145978	Y	aldosterone angiotensin II hypertension	METABOLIC	MET		8	8q21-q22	CYP11B2	143988976	143996261		Hu, B. C.  et al. 2006	16796847				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Zhonghua Yi Xue Za Zhi    2006    86(16)    1144-7	Association of aldosterone synthase gene -344T/C polymorphism with plasma aldosterone and angiotensin II concentration in hypertensive patients.		124080		CDC	2006	In the EH patients, CYP11B2 -344T/C polymorphism is associated with plasma Aldo and the plasma Ang II concentration when the patients are in the upright position.											
145979	Y	high-altitude tolerance	OTHER	OTH	Altitude Sickness	8	8q21-q22	CYP11B2	143988976	143996261		Rajput, C.  et al. 2006	16893516				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		124080		CDC	2006												
145981	N	aldosterone	METABOLIC	MET		8	8q21-q22	CYP11B2	143988976	143996261		Imrie, H.  et al. 2006	16984984				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Caucasian		CDC GDP info	1585	Hs.632054			J Clin Endocrinol Metab    2006	ASSOCIATION BETWEEN ALDOSTERONE PRODUCTION AND VARIATION IN THE 11-BETA HYDROXYLASE (CYP11B1) GENE		124080		CDC	2006	Aldosterone synthesis is highly heritable and is affected by genotype at CYP11B1.											
145982	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Acromegaly|Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Mulatero, P.  et al. 2006	17003099	CYP11B2  -344T/C			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			J Clin Endocrinol Metab    2006	CYP11B2 -344T/C GENE POLYMORPHISM AND BLOOD PRESSURE IN PATIENTS WITH ACROMEGALY		124080		CDC	2006	We have shown an association of the -344T/C CYP11B2 gene polymorphism with BP in patients affected by acromegaly. These findings suggest that the RAAS is implicated in the pathogenesis of hypertension in acromegaly.											
145984	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Sookoian, S.  et al. 2007	17143166				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			J Hypertens    2007    25(1)    5-13	Association of the C-344T aldosterone synthase gene variant with essential hypertension		124080		CDC	2007	Homozygous individuals for the -344C CYP11B2 allele are at 17% lower risk of hypertension with respect to homozygous TT subjects.											
145985	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Russo, P.  et al. 2007	17261471	CYP11B2 C allele of -344C/T		promoter	Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	European		CDC GDP info	1585	Hs.632054			Am J Hypertens    2007    20(2)    218-22	-344C/T Variant in the Promoter of the Aldosterone Synthase Gene (CYP11B2) Is Associated With Metabolic Syndrome in Men		124080		CDC	2007	The C allele of -344C/T variant of CYP11B2 increases susceptibility to metabolic syndrome in European men, but not in women, suggesting a pleiotropic role for this gene in modulating cardiovascular risk.											
145986	Y	aldosterone hypertension	METABOLIC	MET	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Iwai, N.  et al. 2007	17296872				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Hypertension    2007	Polymorphism of CYP11B2 Determines Salt Sensitivity in Japanese		124080		CDC	2007			renin activity sodium									
145988	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Yamada, Y.  et al. 2007	17334644				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2		Japan	CDC GDP info	1585	Hs.632054			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		124080		CDC	2007												
145989	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	8	8q21-q22	CYP11B2	143988976	143996261		Bauters, C.  et al. 2007	17383306				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		124080		CDC	2007												
145990		hypertension kidney dysfunction	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Sun, X.  et al. 2007	17407071				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    153-6	Association of aldosterone synthase gene -344 T/C polymorphism with early renal damage in Han nationality with essential hypertension.		124080		CDC	2007	These results suggest that -344T/C polymorphism of aldosterone synthase gene may be associated with early renal damage in Han nationality with essential hypertension, C allele may be a genetic factor susceptible to renal damage in hypertensives.											
145991	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression	8	8q21-q22	CYP11B2	143988976	143996261		Franco, E.  et al. 2007	17519002				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Italian	Italy	CDC GDP info	1585	Hs.632054			BMC Med Genet    2007    8(1)    27	Renin-angiotensin-aldosterone system polymorphisms		124080		CDC	2007	Polymorphisms in RAAS genes can be important in the onset of a first AMI in young patients (ACE, CYP11B2 polymorphisms), but not in the disease progression after a long follow-up period. Larger collaborative studies are needed to confirm these results.											
145992	Y	blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	8	8q21-q22	CYP11B2	143988976	143996261		Jiang, X.  et al. 2007	17531119	CYP11B2 -344CC			Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Chin Med J (Engl)    2007    120(9)    782-786	Effect of renin-angiotensin-aldosterone system gene polymorphisms on blood pressure response to antihypertensive treatment		124080		CDC	2007	AGT-6G allele, CYP11B2 -344CC genotype and its combination with ACE D allele are associated with BP response to hydrochlorothiazide treatment. Larger studies are warranted to validate this finding.		hydrochlorothiazide									
145993		hypertension	CARDIOVASCULAR	CARD		8	8q21-q22	CYP11B2	143988976	143996261		Freitas, S. R.  et al. 2007	17546276				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Brazilian		CDC GDP info	1585	Hs.632054			Arq Bras Cardiol    2007    88(4)    447-51	Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region		124080		CDC	2007	These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.											
145995	P		NORMALVARIATION	NV		10	10q24.3	CYP17A1	104580277	104587280		Hamajima, N.  et al. 2002	12718576				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1586	Hs.438016			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		202110		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
145996	P		CANCER	CAN	Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		202110		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
145997	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280			16424004				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Cancer Res    2006    66(2)    743-7	Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors		202110		CDC	2006	our results suggest that several SNPs along the androgen pathway, especially in CYP19A1 and CYP17A1, may influence prostate cancer development and progression.											
145999		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280			16519145				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Zhonghua Nan Ke Xue    2006    12(2)    120-2	Association between the polymorphism of CYP17 gene and risk of prostate cancer in chinese vigurs men		202110		CDC	2006	More frequency of A2/A2 genotype in prostate cancer than in the control may be associated with the morbidity of prostate cancer in Vigurs male population. Meanwhile, the significant high PSA levels in A2/A2 group also support the view.											
146001	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Denschlag, D.  et al. 2006	16595228				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDP info	1586	Hs.438016			Fertil Steril    2006    85(2)    462-7	Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas		202110		CDC	2006												
146002	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Tsujino, T.  et al. 2006	16603433	CYP17 MspA1 polymorphism			Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Gynecol Endocrinol    2006    22(2)    87-91	The CYP17 MspA1 polymorphism is not associated with an increased risk of uterine leiomyomas in a Japanese population		202110		CDC	2006												
146003		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Corder, E. H.  et al. 2006	16608396				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		202110		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
146005	Y	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Piller, R.  et al. 2006	16702327				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	German		CDC GDP info	1586	Hs.438016			J Nutr    2006    136(6)    1596-603	CYP17 Genotype Modifies the Association between Lignan Supply and Premenopausal Breast Cancer Risk in Humans		202110		CDC	2006												
146006	Y	acne	INFECTION	INF	Acne Vulgaris	10	10q24.3	CYP17A1	104580277	104587280		He, L.  et al. 2006	16707883				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Dermatology    2006    212(4)    338-42	The Relationship between CYP17 -34T/C Polymorphism and Acne in Chinese Subjects Revealed by Sequencing		202110		CDC	2006	The CYP17 -34C/C homozygote Chinese men are at a significantly increased risk of developing severe acne.											
146007		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Sobti, R. C.  et al. 2006	16716118				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Indian		CDC GDP info	1586	Hs.438016			DNA Cell Biol    2006    25(5)    287-94	CYP17, SRD5A2, CYP1B1, and CYP2D6 Gene Polymorphisms with Prostate Cancer Risk in North Indian Population		202110		CDC	2006												
146009		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Berstein, L.  et al. 2006	16730930				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Maturitas    2006	Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes		202110		CDC	2006	It may be suggested that more aggressive clinically and frequently receptor-negative type II of endometrial cancer is associated with indirect signs of mainly intratumoral hyperproduction of estrogens (excess of CYP19 A6A6 genotype) without their sufficient inactivation into methoxyderivatives that warrants further study.											
146010		endometrial cancer	CANCER	CAN	Adenocarcinoma|Endometrial Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Szyllo, K.  et al. 2006	16739881				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Pol J Pathol    2006    57(1)    35-40	The polymorphisms of the CYP17 and CYP19 genes in endometrial cancer patients		202110		CDC	2006												
146011		menarche	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Guo, Y.  et al. 2006	16782804				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDP info	1586	Hs.438016			Hum Mol Genet    2006	Polymorphisms of Estrogen-Biosynthesis Genes CYP 17 and CYP19 may influence Age at Menarche		202110		CDC	2006												
146013		urinary estrogen metabolites	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Greenlee, H.  et al. 2006	16850246				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Breast Cancer Res Treat    2006	Variants in estrogen metabolism and biosynthesis genes and urinary estrogen metabolites in women with a family history of breast cancer		202110		CDC	2006												
146014		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Okugi, H.  et al. 2006	16859836				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Cancer Detect Prev    2006	Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population		202110		CDC	2006	Genetic polymorphisms of the genes involved in androgen metabolism and signaling were significantly associated with familial prostate cancer risk.											
146015		breast cancer	CANCER	CAN		10	10q24.3	CYP17A1	104580277	104587280		Hu, M. B.  et al. 2006	16875543				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(4)    351-5	Study on the relationship between polymorphisms of genes (CYP17, CYP19 and SULT1A1) and susceptibility to breast cancer in Chinese women		202110		CDC	2006	This study indicated that the polymorphisms of estrogen-metabolizing genes were related to breast cancer.											
146017		mamographic density	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Warren, R.  et al. 2006	16896040				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	European		CDC GDP info	1586	Hs.438016			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		202110		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
146018	N	cholestasis, intrahepatic	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications	10	10q24.3	CYP17A1	104580277	104587280		Zhang, L.  et al. 2006	16909599				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(4)    551-3, 582	Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu		202110		CDC	2006												
146019		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Silva, S. N.  et al. 2006	16969494				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Indian;Portuguese		CDC GDP info	1586	Hs.438016			Oncol Rep    2006    16(4)    781-8	Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD)		202110		CDC	2006			breast feeding									
146021	N	menopause	REPRODUCTION	REP	Hot Flashes	10	10q24.3	CYP17A1	104580277	104587280		Woods, N. F.  et al. 2006	16977255				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Menopause    2006	Polymorphisms in the estrogen synthesis and metabolism pathways and symptoms during the menopausal transition		202110		CDC	2006	These findings suggest a possible role for CYP19 polymorphisms in estrogen levels and in vasomotor symptoms during the menopausal transition that warrants further study in larger and more diverse populations of women.											
146022	N	sex hormones	PHARMACOGENOMIC	PHARM	Breast Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Abrahamson, P. E.  et al. 2006	17077994				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	non-Hispanic		CDC GDP info	1586	Hs.438016			Breast Cancer Res Treat    2006	Associations between the CYP17, CYPIB1, COMT and SHBG polymorphisms and serum sex hormones in post-menopausal breast cancer survivors		202110		CDC	2006			tamoxifen									
146023		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Lindstrom, S.  et al. 2006	17108148				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Cancer Res    2006    66(22)    11077-11083	Germ-Line Genetic Variation in the Key Androgen-Regulating Genes Androgen Receptor, Cytochrome P450, and Steroid-5-{alpha}-Reductase Type 2 Is Important for Prostate Cancer Development		202110		CDC	2006												
146024		androgens endometrial cancer estrogens progesterone	CANCER	CAN	Endometrial Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Olson, S. H.  et al. 2006	17110639				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Am J Epidemiol    2006	Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer		202110		CDC	2006	indicate the need to study other variants and haplotypes in these genes, particularly CYP17A1 and CYP19A1, as well as variants in other genes involved in hormone biosynthesis and metabolism pathways.											
146025		17-{beta} estradiol levels	NORMALVARIATION	NV		10	10q24.3	CYP17A1	104580277	104587280		Jasienska, G.  et al. 2006	17119038				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Polish		CDC GDP info	1586	Hs.438016			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2131-5	CYP17 Genotypes Differ in Salivary 17-{beta} Estradiol Levels		202110		CDC	2006												
146026		endometrial cancer	CANCER	CAN	Adenocarcinoma|Endometrial Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Szyllo, K.  et al. 2006	17167982				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			J Exp Clin Cancer Res    2006    25(3)    411-6	The T/C polymorphism of the CYP17 gene and G/A polymorphism of the CYP19 gene in endometrial cancer		202110		CDC	2006												
146029		menarche menstrual cycle length	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Henningson, M.  et al. 2007	17307805				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Mol Hum Reprod    2007	CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women		202110		CDC	2007	this study suggests that short menstrual cycles, age at first OC use and BRCA mutation status may need to be considered in studies exploring the relationships between CYP17 and risk factors for early onset breast cancer.											
146030	Y	prostate cancer prostate specific antigen	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Onen, I. H.  et al. 2007	17328668				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Turkish		CDC GDP info	1586	Hs.438016			DNA Cell Biol    2007    26(2)    100-7	The Association of 5alpha-Reductase II (SRD5A2) and 17 Hydroxylase (CYP17) Gene Polymorphisms with Prostate Cancer Patients in The Turkish Population		202110		CDC	2007												
146031		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	10	10q24.3	CYP17A1	104580277	104587280		Suryanaryana, V. V.  et al. 2007	17359589				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Indian		CDC GDP info	1586	Hs.438016			Reprod Biomed Online    2007    14(3)    341-7	Role of CYP17 and CYP19 polymorphisms in idiopathic recurrent miscarriages among South Indian women		202110		CDC	2007												
146032		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		De Carvalho, C. V.  et al. 2007	17484509				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Gynecol Endocrinol    2007    23(1)    29-33	Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk		202110		CDC	2007												
146033		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		202110		CDC	2007												
146035		menarche menopause	REPRODUCTION	REP		10	10q24.3	CYP17A1	104580277	104587280		Mitchell, E. S.  et al. 2007	17589376				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		202110		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
146036	Y	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	10	10q24.3	CYP17A1	104580277	104587280		Campbell, P. T.  et al. 2007	17606708	CYP17 (c.-34T-->C)			Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Caucasian		CDC GDP info	1586	Hs.438016			Clin Cancer Res    2007    13(13)    3783-8	Cytochrome P450 17A1 and Catechol O-Methyltransferase Polymorphisms and Age at Lynch Syndrome Colon Cancer Onset in Newfoundland		202110		CDC	2007	This study showed that a polymorphism in CYP17 (c.											
146037	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Bethke, L.  et al. 2007	17615053				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		202110		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146039			NORMALVARIATION	NV		15	15q21.1	CYP19A1	49288961	49418086		Hamajima, N.  et al. 2002	12164325				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		107910		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
146041	P		CANCER	CAN	Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		107910		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146042	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	15	15q21.1	CYP19A1	49288961	49418086		Peter, I.  et al. 2005	16269961				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			J Hypertens    2005    23(12)    2193-200	Variation in estrogen-related genes and cross-sectional and longitudinal blood pressure in the Framingham Heart Study		107910		CDC	2005	Although the underlying relations between genes involved in estrogen action and hypertension remain to be completely understood, our findings provide suggestive evidence of gender-specific contributions of estrogen-related genes to blood pressure variation. As no correction for multiple testing was performed in the analyses, we view these results as suggestive and not definitive. Further studies are warranted to confirm these results using a comprehensive set of polymorphisms in order to shed more light on the involvement of estrogen in blood pressure regulation.											
146043		endometrial cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Endometrial Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086			16402077				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDP info	1588	Hs.511367			Pharmacogenomics J    2006	Estrogen-metabolizing gene polymorphisms in the assessment of female hormone-dependent cancer risk		107910		CDC	2006												
146045	N	breast cancer	CANCER	CAN		15	15q21.1	CYP19A1	49288961	49418086		Song, C.  et al. 2006	16604491				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    181-3	Effect of R264C polymorphism in CYP19A1 gene on BRCA1/2-negative hereditary breast cancer from Shanghai population of China.		107910		CDC	2006	R264C polymorphism in CYP19A1 gene is not a candidate locus for low penetrance breast cancer susceptibility in Shanghai group of Chinese population and not recommended in clinical genetic test.											
146046		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Corder, E. H.  et al. 2006	16608396				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		107910		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
146047		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Berstein, L.  et al. 2006	16730930				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Maturitas    2006	Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes		107910		CDC	2006	It may be suggested that more aggressive clinically and frequently receptor-negative type II of endometrial cancer is associated with indirect signs of mainly intratumoral hyperproduction of estrogens (excess of CYP19 A6A6 genotype) without their sufficient inactivation into methoxyderivatives that warrants further study.											
146049		endometrial cancer	CANCER	CAN	Adenocarcinoma|Endometrial Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Szyllo, K.  et al. 2006	16739881				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Pol J Pathol    2006    57(1)    35-40	The polymorphisms of the CYP17 and CYP19 genes in endometrial cancer patients		107910		CDC	2006												
146050		menarche	REPRODUCTION	REP		15	15q21.1	CYP19A1	49288961	49418086		Guo, Y.  et al. 2006	16782804				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDP info	1588	Hs.511367			Hum Mol Genet    2006	Polymorphisms of Estrogen-Biosynthesis Genes CYP 17 and CYP19 may influence Age at Menarche		107910		CDC	2006												
146051		bone density	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086		Riancho, J. A.  et al. 2006	16793950				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Eur J Endocrinol    2006    155(1)    53-9	A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density		107910		CDC	2006	These results suggest that the interaction between polymorphisms of genes involved in estrogen synthesis and estrogen signaling exerts an important influence on BMD in postmenopausal women, thus helping to explain, in part, its heritable component.											
146052		urinary estrogen metabolites	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Greenlee, H.  et al. 2006	16850246				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Breast Cancer Res Treat    2006	Variants in estrogen metabolism and biosynthesis genes and urinary estrogen metabolites in women with a family history of breast cancer		107910		CDC	2006												
146053		breast cancer	CANCER	CAN		15	15q21.1	CYP19A1	49288961	49418086		Hu, M. B.  et al. 2006	16875543				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(4)    351-5	Study on the relationship between polymorphisms of genes (CYP17, CYP19 and SULT1A1) and susceptibility to breast cancer in Chinese women		107910		CDC	2006	This study indicated that the polymorphisms of estrogen-metabolizing genes were related to breast cancer.											
146054		mamographic density	CANCER	CAN	Breast Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Warren, R.  et al. 2006	16896040				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	European		CDC GDP info	1588	Hs.511367			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		107910		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
146055		androgen	METABOLIC	MET		15	15q21.1	CYP19A1	49288961	49418086		Sowers, M. R.  et al. 2006	16949385				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	1588	Hs.511367			Am J Med    2006    119(9 Suppl 1)    S23-30	Aromatase gene (CYP 19) polymorphisms and endogenous androgen concentrations in a multiracial/multiethnic, multisite study of women at midlife		107910		CDC	2006												
146056	Y	diabetes, type 2 insulin metabolic syndrome	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	15	15q21.1	CYP19A1	49288961	49418086		Lo, J. C.  et al. 2006	16949391				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	1588	Hs.511367			Am J Med    2006    119(9 Suppl 1)    S69-78	The association of genetic polymorphisms in sex hormone biosynthesis and action with insulin sensitivity and diabetes mellitus in women at midlife		107910		CDC	2006												
146057	Y	menopause	REPRODUCTION	REP	Hot Flashes	15	15q21.1	CYP19A1	49288961	49418086		Woods, N. F.  et al. 2006	16977255				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Menopause    2006	Polymorphisms in the estrogen synthesis and metabolism pathways and symptoms during the menopausal transition		107910		CDC	2006	These findings suggest a possible role for CYP19 polymorphisms in estrogen levels and in vasomotor symptoms during the menopausal transition that warrants further study in larger and more diverse populations of women.											
146058	N	breast cancer	CANCER	CAN	Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Olson, J. E.  et al. 2006	17004113				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Breast Cancer Res Treat    2006	A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches		107910		CDC	2006	These analyses suggest that variants of CYP19 are not associated with risk of breast cancer.											
146059		endometrial cancer	CANCER	CAN	Adenocarcinoma|Endometrial Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Szyllo, K.  et al. 2006	17167982				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			J Exp Clin Cancer Res    2006    25(3)    411-6	The T/C polymorphism of the CYP17 gene and G/A polymorphism of the CYP19 gene in endometrial cancer		107910		CDC	2006												
146061		androgens estradiol estrogens hot flashes progesterone	METABOLIC	MET	Hot Flashes	15	15q21.1	CYP19A1	49288961	49418086		Schilling, C.  et al. 2006	17187946				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Maturitas    2006	Genetic polymorphisms, hormone levels, and hot flashes in midlife women		107910		CDC	2006	Some genetic polymorphisms may be associated with altered levels of hormones in midlife women.											
146063		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		107910		CDC	2007												
146064		breast cancer	CANCER	CAN		15	15q21.1	CYP19A1	49288961	49418086		Hu, Z.  et al. 2007	17562079				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			J Cancer Res Clin Oncol    2007	A multigenic study on breast cancer risk associated with genetic polymorphisms of ER Alpha, COMT and CYP19 gene in BRCA1/BRCA2 negative Shanghai women with early onset breast cancer or affected relatives		107910		CDC	2007			menopause									
146065		breast cancer	CANCER	CAN		15	15q21.1	CYP19A1	49288961	49418086		Justenhoven, C.  et al. 2007	17588204				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	German		CDC GDP info	1588	Hs.511367			Breast Cancer Res Treat    2007	Breast cancer		107910		CDC	2007			body mass									
146066		menarche menopause	REPRODUCTION	REP		15	15q21.1	CYP19A1	49288961	49418086		Mitchell, E. S.  et al. 2007	17589376				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		107910		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
146067	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Bethke, L.  et al. 2007	17615053				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		107910		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146068	P		NORMALVARIATION	NV		15	15q22-q24	CYP1A1	72798942	72804930		Hamajima, N.  et al. 2002	12718576				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1543	Hs.72912			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		108330		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
146069	P		CANCER	CAN	Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		108330		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146070		endometrial cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Endometrial Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930			16402077				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDP info	1543	Hs.72912			Pharmacogenomics J    2006	Estrogen-metabolizing gene polymorphisms in the assessment of female hormone-dependent cancer risk		108330		CDC	2006												
146071	Y	colorectal cancer	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Chen, K.  et al. 2005	16471212	CYP1A1 6235C			Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		108330		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
146073		brain cancer	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		De Roos, A. J.  et al. 2006	16598069				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Neuro-oncol    2006    8(2)    145-55	Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors		108330		CDC	2006			smoking (tobacco)									
146074		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Corder, E. H.  et al. 2006	16608396				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		108330		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
146075		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Tobacco Use Disorder	15	15q22-q24	CYP1A1	72798942	72804930		Nock, N. L.  et al. 2006	16614120				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2006    15(4)    756-61	Polymorphisms in polycyclic aromatic hydrocarbon metabolism and conjugation genes, interactions with smoking and prostate cancer risk		108330		CDC	2006			smoking (tobacco)									
146076	Y	colorectal cancer	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Fan, C. H.  et al. 2006	16620591				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(1)    13-7	Association between genetic polymorphisms of metabolic enzymes and susceptibility of colorectal cancer		108330		CDC	2006	This study suggests that CYP1A1 and UGT1A7 variants might be associated with colorectal cancer.											
146077	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		108330		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146079		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Chang, T. W.  et al. 2006	16713266				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		108330		CDC	2006												
146080	P		NORMALVARIATION	NV		15	15q22-q24	CYP1A1	72798942	72804930		Chang, F.  et al. 2006	16767678				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    333-4	Polymorphism of CYP1A1 gene Msp I site in the Mongolian and Han nationality populations of Inner Mongolia of China.		108330		CDC	2006	The genotype frequency distributions of CYP1A1 gene Msp I site did not exhibit the obvious difference between Mongolian nationality and Han nationality population of Inner Mongolia.											
146081			NORMALVARIATION	NV		15	15q22-q24	CYP1A1	72798942	72804930		Bosch, T. M.  et al. 2006	16771603				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDP info	1543	Hs.72912			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		108330		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146083	N	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Abnet, C. C.  et al. 2006	16864595				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Brazil	CDC GDP info	1543	Hs.72912			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		108330		CDC	2006												
146084		colon polyps	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Goode, E. L.  et al. 2006	16926176				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDP info	1543	Hs.72912			Carcinogenesis    2006	Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps		108330		CDC	2006			meat smoking (tobacco)									
146085		estradiol urinary estrogen metabolites	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Sowers, M. R.  et al. 2006	16949388				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	1543	Hs.72912			Am J Med    2006    119(9 Suppl 1)    S44-51	CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal		108330		CDC	2006												
146086		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Manuguerra, M. et al  et al. 2006	16956909				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		108330		CDC	2006												
146088	N	menopause	REPRODUCTION	REP	Hot Flashes	15	15q22-q24	CYP1A1	72798942	72804930		Woods, N. F.  et al. 2006	16977255				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Menopause    2006	Polymorphisms in the estrogen synthesis and metabolism pathways and symptoms during the menopausal transition		108330		CDC	2006	These findings suggest a possible role for CYP19 polymorphisms in estrogen levels and in vasomotor symptoms during the menopausal transition that warrants further study in larger and more diverse populations of women.											
146089		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	15	15q22-q24	CYP1A1	72798942	72804930		De Roos, A. J.  et al. 2006	16985026				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	non-Hispanic		CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		108330		CDC	2006												
146090	Y	coke-oven toxicity	METABOLIC	MET	DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Chen, Y.  et al. 2006	16985033				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1703-7	Association of Polymorphisms in AhR, CYP1A1, GSTM1, and GSTT1 Genes with Levels of DNA Damage in Peripheral Blood Lymphocytes among Coke-Oven Workers		108330		CDC	2006												
146091		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Rebbeck, T. R.  et al. 2006	16985250				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Philadelphia	CDC GDP info	1543	Hs.72912			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		108330		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
146092		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Kezic, S.  et al. 2006	17022435				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		108330		CDC	2006												
146094	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	15	15q22-q24	CYP1A1	72798942	72804930		Gambier, N.  et al. 2006	17053541				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	French		CDC GDP info	1543	Hs.72912			J Hypertens    2006    24(11)    2199-205	Interaction between CYP1A1 T3801C and AHR G1661A polymorphisms according to smoking status on blood pressure in the Stanislas cohort		108330		CDC	2006	This study is the first to show an interaction between the CYP1A1 T3801C and AHR G1661A polymorphisms.		smoking (tobacco)									
146096		cytogenetic studies	OTHER	OTH		15	15q22-q24	CYP1A1	72798942	72804930		Laczmanska, I.  et al. 2006	17078101				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		108330		CDC	2006												
146097		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Lira, M. G.  et al. 2006	17083362				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Exp Dermatol    2006    15(12)    958-65	Glutathione S-transferase and CYP1A1 gene polymorphisms and non-melanoma skin cancer risk in Italian transplanted patients		108330		CDC	2006												
146099	N	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	15	15q22-q24	CYP1A1	72798942	72804930		Barragan, E.  et al. 2006	17118447				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		108330		CDC	2006			chemotherapy									
146100		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Bufalo, N. E.  et al. 2006	17158763				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Endocr Relat Cancer    2006    13(4)    1185-93	Smoking and susceptibility to thyroid cancer		108330		CDC	2006			smoking (tobacco)									
146101		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Agudo, A. et.al.  et al. 2006	17164366				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	European	Europe	CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2427-34	Polymorphisms in metabolic genes related to tobacco smoke and the risk of gastric cancer in the European prospective investigation into cancer and nutrition		108330		CDC	2006			smoking (tobacco)									
146102		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Zusterzeel, P. L.  et al. 2006	17167268				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Gynecol Obstet Invest    2006    63(4)    209-213	Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes		108330		CDC	2006	Women withthe simultaneous occurrence of two or more genetic polymorphisms in the above-mentioned biotransformation enzymes, most probably resulting in a disturbed detoxification capacity, may be at increased risk for pre-eclampsia.											
146103	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Lee, K.  et al. 2006	17171211				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Rev Med Chil    2006    134(9)    1107-1115	Cytochrome P4501A1 (CYP1A1), glutathione S transferase M1 (GSTM1) polymorphisms and their association with smoking and alcohol consumption as gastric cancer susceptibility biomarkers.		108330		CDC	2006	Subjects that carry the m2 allelic variant of CYP1A1 and are exposed to tobacco smoke or alcohol have a significantly higher risk of developing gastric cancer.		alcohol smoking (tobacco)									
146105	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Yeh, C. C.  et al. 2006	17191090				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		108330		CDC	2006												
146106	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Berndt, S. I.  et al. 2007	17220347				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	non-Hispanic		CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		108330		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
146108		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Jeannot, E.  et al. 2007	17363580				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		108330		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
146109		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Bolufer, P.  et al. 2007	17367411				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		108330		CDC	2007												
146110		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Rebbeck, T. R.  et al. 2007	17372239				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	African American;European	Pennsylvania	CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		108330		CDC	2007												
146112		brain cancer	CANCER	CAN	Brain Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Schwartzbaum, J. A.  et al. 2007	17372252				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		Finland|England|Denmark|Sweden	CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		108330		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
146113		PAH-DNA adducts	METABOLIC	MET	DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Garte, S.  et al. 2007	17403528				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	European		CDC GDP info	1543	Hs.72912			Mutat Res    2007	Effects of metabolic genotypes on intermediary biomarkers in subjects exposed to PAHS		108330		CDC	2007												
146114		PAH-DNA adducts	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Binkova, B.  et al. 2007	17412371				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		108330		CDC	2007												
146115		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Yang, M.  et al. 2007	17428572				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Korean		CDC GDP info	1543	Hs.72912			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		108330		CDC	2007												
146116	Y	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Long, J. R.  et al. 2007	17429315				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Pharmacogenet Genomics    2007    17(5)    331-8	Genetic polymorphisms in estrogen-metabolizing genes and breast cancer survival	rs4646903	108330		CDC	2007	Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women.											
146118		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Osawa, Y.  et al. 2007	17477782				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Asian Pac J Cancer Prev    2007    8(1)    103-8	NAT2 and CYP1A2 Polymorphisms and Lung Cancer Risk in Relation to Smoking Status		108330		CDC	2007			smoking (tobacco)									
146119		benzene toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Gu, S. Y.  et al. 2007	17479406				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2		China	CDC GDP info	1543	Hs.72912			J Toxicol Environ Health A    2007    70(11)    916-24	Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population		108330		CDC	2007	our data suggested that individuals with CYP1A1 c.											
146121	N	1-hydroxypyrene, urinary	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Chen, B.  et al. 2007	17498780				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		108330		CDC	2007												
146122		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		108330		CDC	2007												
146124		birth weight	METABOLIC	MET	Genetic Predisposition to Disease|Birth Weight	15	15q22-q24	CYP1A1	72798942	72804930		Wu, T.  et al. 2007	17526865				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Am J Epidemiol    2007	Passive Smoking, Metabolic Gene Polymorphisms, and Infant Birth Weight in a Prospective Cohort Study of Chinese Women		108330		CDC	2007			smoking (tobacco), maternal									
146125	N	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Nock, N. L.  et al. 2007	17548691				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	African American;Caucasian		CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		108330		CDC	2007			smoking (tobacco)									
146126		breast cancer	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Justenhoven, C.  et al. 2007	17588204				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	German		CDC GDP info	1543	Hs.72912			Breast Cancer Res Treat    2007	Breast cancer		108330		CDC	2007			body mass									
146128		DNA damage	OTHER	OTH	DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Novotna, B.  et al. 2007	17590289				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Toxicol Lett    2007	Impact of air pollution and genotype variability on DNA damage in Prague policemen		108330		CDC	2007			polycyclic aromatic hydrocarbons vitamin C									
146129		head and neck cancer	CANCER	CAN		15	15q22-q24	CYP1A1	72798942	72804930		Boccia, S.  et al. 2007	17611777				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		108330		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
146131		endometrial cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Endometrial Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994			16402077				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Caucasian		CDC GDP info	1544	Hs.1361			Pharmacogenomics J    2006	Estrogen-metabolizing gene polymorphisms in the assessment of female hormone-dependent cancer risk		124060		CDC	2006												
146132		1-hydroxypyrene	CANCER	CAN	Lymphoma	15	15q24	CYP1A2	72828236	72835994		Cocco, P.  et al. 2007	16406813				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Ann Epidemiol    2007    17(1)    1-8	Effect of urban traffic, individual habits, and genetic polymorphisms on background urinary 1-hydroxypyrene excretion		124060		CDC	2007	Our study shows that exposure to urban traffic, dietary habits, and the nonnull GSTT1 genotype may contribute to interindividual variation in background levels of 1-OHP urinary excretion in subjects without occupational exposure to PAHs.		polycyclic aromatic hydrocarbons									
146133	N	colorectal cancer	CANCER	CAN		15	15q24	CYP1A2	72828236	72835994		Chen, K.  et al. 2005	16471212				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		124060		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
146134	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Chen, X.  et al. 2006	16495781				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Pharmacogenet Genomics    2006    16(3)    219-227	Association of CYP1A2 genetic polymorphisms with hepatocellular carcinoma susceptibility		124060		CDC	2006	CYP1A2 genetic polymorphisms are associated with HCC susceptibility in smokers and HBsAg seronegative individuals in the Fusui endemic region.		smoking (tobacco)									
146135	N	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994			16538170				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		China	CDC GDP info	1544	Hs.1361			Pharmacogenet Genomics    2006    16(4)    237-43	Population-based case-control study of AhR (aryl hydrocarbon receptor) and CYP1A2 polymorphisms and breast cancer risk		124060		CDC	2006	the results from our study suggest that the AhR Lys554Arg polymorphism may be a genetic susceptibility factor for breast cancer, whereas CYP1A2*1F, which is a potentially functional single nucleotide polymorphism, may not be related to breast cancer risk.											
146136		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994			16538176				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		124060		CDC	2006												
146138		platelet aggregation	PHARMACOGENOMIC	PHARM		15	15q24	CYP1A2	72828236	72835994		Hulot, J. S.  et al. 2006	16772608				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Blood    2006	Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects		124060		CDC	2006			clopidogrel									
146139		polydipsia	OTHER	OTH	Genetic Predisposition to Disease|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Matsumoto, C.  et al. 2006	16775389				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Neuromolecular Med    2006    8(3)    381-8	Association Study Between Functional Polymorphisms in the Cytochrome P450 1A2 and 2D6 Genes and Polydipsia in Schizophrenia		124060		CDC	2006												
146140	N	fetal loss, late	REPRODUCTION	REP		15	15q24	CYP1A2	72828236	72835994		Bech, B. H.  et al. 2006	16782969				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Danish		CDC GDP info	1544	Hs.1361			Int J Epidemiol    2006	Stillbirth and slow metabolizers of caffeine		124060		CDC	2006	We found no link between any single genotype and the risk of stillbirth.											
146141		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Bae, S. Y.  et al. 2006	16800822				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Korean		CDC GDP info	1544	Hs.1361			Cancer Sci    2006	Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans		124060		CDC	2006			smoking (tobacco)									
146142	N	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Abnet, C. C.  et al. 2006	16864595				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Brazil	CDC GDP info	1544	Hs.1361			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		124060		CDC	2006												
146143	P		NORMALVARIATION	NV		15	15q24	CYP1A2	72828236	72835994		Fujihara, J.  et al. 2006	16933202				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Korean		CDC GDP info	1544	Hs.1361			Cell Biochem Funct    2006	CYP1A2 polymorphism (C > A at position -163) in Ovambos, Koreans and Mongolians		124060		CDC	2006												
146145		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	15	15q24	CYP1A2	72828236	72835994		De Roos, A. J.  et al. 2006	16985026				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	non-Hispanic		CDC GDP info	1544	Hs.1361			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		124060		CDC	2006												
146146		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	15	15q24	CYP1A2	72828236	72835994		Rebbeck, T. R.  et al. 2006	16985250				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3		Philadelphia	CDC GDP info	1544	Hs.1361			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		124060		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
146147		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	15	15q24	CYP1A2	72828236	72835994		Agudo, A. et.al.  et al. 2006	17164366				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	European	Europe	CDC GDP info	1544	Hs.1361			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2427-34	Polymorphisms in metabolic genes related to tobacco smoke and the risk of gastric cancer in the European prospective investigation into cancer and nutrition		124060		CDC	2006			smoking (tobacco)									
146148	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	15	15q24	CYP1A2	72828236	72835994		Crettol, S.  et al. 2006	17178267				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		124060		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146151		mamographic density	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Takata, Y.  et al. 2007	17295924				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			BMC Cancer    2007    7(1)    30	Breast density and polymorphisms in genes coding for CYP1A2 and COMT		124060		CDC	2007	The lack of an association between the CYP1A2 genotype and the size of the dense areas suggests an effect on the non-dense, i.e., fatty breast tissue. The discrepancies among studies may be due to differential susceptibility; changes in enzyme activity as a result of the CYP1A2*1F polymorphism may influence breast tissue differently depending on hormonal sta											
146152	N	thiroidazine pharmacokinetics	PHARMACOGENOMIC	PHARM	Mental Disorders	15	15q24	CYP1A2	72828236	72835994		Dorado, P.  et al. 2007	17345072				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Eur J Clin Pharmacol    2007	No effect of the CYP1A2*1F genotype on thioridazine, mesoridazine, sulforidazine plasma concentrations in psychiatric patients		124060		CDC	2007			smoking (tobacco)									
146153		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Jeannot, E.  et al. 2007	17363580				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		124060		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
146155		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Rebbeck, T. R.  et al. 2007	17372239				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	African American;European	Pennsylvania	CDC GDP info	1544	Hs.1361			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		124060		CDC	2007												
146156	N	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Long, J. R.  et al. 2007	17429315				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Pharmacogenet Genomics    2007    17(5)    331-8	Genetic polymorphisms in estrogen-metabolizing genes and breast cancer survival		124060		CDC	2007	Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women.											
146157		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	15	15q24	CYP1A2	72828236	72835994		Osawa, Y.  et al. 2007	17477782				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Asian Pac J Cancer Prev    2007    8(1)    103-8	NAT2 and CYP1A2 Polymorphisms and Lung Cancer Risk in Relation to Smoking Status		124060		CDC	2007			smoking (tobacco)									
146159	Y	cholesterol glucose insulin triglycerides	PHARMACOGENOMIC	PHARM	Insulin Resistance	15	15q24	CYP1A2	72828236	72835994		Melkersson, K. I.  et al. 2007	17503978				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			J Clin Psychiatry    2007    68(5)    697-704	Impact of CYP1A2 and CYP2D6 polymorphisms on drug metabolism and on insulin and lipid elevations and insulin resistance in clozapine-treated patients		124060		CDC	2007	CYP1A2 variants *1C and *1D seem to be associated with higher serum clozapine concentrations and an increased risk of developing insulin and lipid elevations and insulin resistance on a given dose of clozapine.		clozapine									
146160	Y	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q24	CYP1A2	72828236	72835994		Kotsopoulos, J.  et al. 2007	17507615				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Cancer Epidemiol Biomarkers Prev    2007    16(5)    912-6	The CYP1A2 Genotype Modifies the Association Between Coffee Consumption and Breast Cancer Risk Among BRCA1 Mutation Carriers		124060		CDC	2007			coffee									
146161		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q24	CYP1A2	72828236	72835994		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		124060		CDC	2007												
146162		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Pavanello, S.  et al. 2007	17509724				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Tunisian		CDC GDP info	1544	Hs.1361			Lung Cancer    2007	Interaction between CYP1A2-T2467DELT polymorphism and smoking in adenocarcinoma and squamous cell carcinoma of the lung		124060		CDC	2007			smoking (tobacco)									
146163		birth weight small for gestational age	REPRODUCTION	REP	Pregnancy Complications	15	15q24	CYP1A2	72828236	72835994		Infante-Rivard, C.  et al. 2007	17564586				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Paediatr Perinat Epidemiol    2007    21(4)    300-9	Caffeine intake and small-for-gestational-age birth		124060		CDC	2007			caffeine									
146165	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Fan, C.  et al. 2007	17603900				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		124060		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)									
146166	Y	QT intervals	PHARMACOGENOMIC	PHARM	Long QT Syndrome|Genetic Predisposition to Disease|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Tay, J. K.  et al. 2007	17611010	C allele of the CYP1A2()1F			Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Prog Neuropsychopharmacol Biol Psychiatry    2007	Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophrenia		124060		CDC	2007	there was a trend of those with the C allele of the CYP1A2()1F polymorphism having longer QTc intervals.		antipsychotic drug chlorpromazine									
146167	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	15	15q24	CYP1A2	72828236	72835994		Bethke, L.  et al. 2007	17615053				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		124060		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146168	N	caffeine consumption	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	15	15q24	CYP1A2	72828236	72835994		Cornelis, M. C.  et al. 2007	17616786				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Am J Clin Nutr    2007    86(1)    240-4	Genetic polymorphism of the adenosine A2A receptor is associated with habitual caffeine consumption		124060		CDC	2007	Our findings show that the probability of having the ADORA2A 1083TT genotype decreases as habitual caffeine consumption increases.		caffeine diet smoking (tobacco)									
146169	P		NORMALVARIATION	NV		2	2p21	CYP1B1	38148249	38156796		Hamajima, N.  et al. 2002	12718576				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1545	Hs.154654			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		601771		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
146171		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Nock, N. L.  et al. 2006	16569655				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian		CDC GDP info	1545	Hs.154654			Carcinogenesis    2006	Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk		601771		CDC	2006												
146172		brain cancer	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		De Roos, A. J.  et al. 2006	16598069				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Neuro-oncol    2006    8(2)    145-55	Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors		601771		CDC	2006			smoking (tobacco)									
146173	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	2	2p21	CYP1B1	38148249	38156796		Acharya, M.  et al. 2006	16688110				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian	India	CDC GDP info	1545	Hs.154654			Mol Vis    2006    12    399-404	Primary role of CYP1B1 in Indian juvenile-onset POAG patients		601771		CDC	2006	Our observation suggests that on rare occasions CYP1B1 may be primarily responsible for JOAG by possible monogenic association, and this observation emphasizes the importance of screening for mutation in this gene of JOAG patients that are determined not to harbor mutations in previously characterized candidate genes and loci for POAG.											
146174		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Sobti, R. C.  et al. 2006	16716118				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian		CDC GDP info	1545	Hs.154654			DNA Cell Biol    2006    25(5)    287-94	CYP17, SRD5A2, CYP1B1, and CYP2D6 Gene Polymorphisms with Prostate Cancer Risk in North Indian Population		601771		CDC	2006												
146175		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	2	2p21	CYP1B1	38148249	38156796		Berstein, L.  et al. 2006	16730930				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Maturitas    2006	Hormonal imbalance in two types of endometrial cancer and genetic polymorphism of steroidogenic enzymes		601771		CDC	2006	It may be suggested that more aggressive clinically and frequently receptor-negative type II of endometrial cancer is associated with indirect signs of mainly intratumoral hyperproduction of estrogens (excess of CYP19 A6A6 genotype) without their sufficient inactivation into methoxyderivatives that warrants further study.											
146177	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Disease Progression	2	2p21	CYP1B1	38148249	38156796		Gallicchio, L.  et al. 2006	16808847				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian		CDC GDP info	1545	Hs.154654			BMC Cancer    2006    6(1)    173	Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease		601771		CDC	2006	The results indicate that specific polymorphisms in the CYP1B1, ESR1, and ESR2 genes may play a role in progression of BBD to breast cancer among Caucasian women.											
146178		breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Gaudet, M. M.  et al. 2006	16847423				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Polish		CDC GDP info	1545	Hs.154654			Pharmacogenet Genomics    2006    16(8)    547-553	Genetic variation of Cytochrome P450 1B1 (CYP1B1) and risk of breast cancer among Polish women		601771		CDC	2006			family history									
146179		urinary estrogen metabolites	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Greenlee, H.  et al. 2006	16850246				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Breast Cancer Res Treat    2006	Variants in estrogen metabolism and biosynthesis genes and urinary estrogen metabolites in women with a family history of breast cancer		601771		CDC	2006												
146180	Y	glaucoma, primary open-angle ocular hypertension	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Lopez-Garrido, M. P.  et al. 2006	16862072				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Spanish;French		CDC GDP info	1545	Hs.154654			Mol Vis    2006    12    748-55	Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma		601771		CDC	2006	Heterozygous CYP1B1 mutations could confer increased susceptibility to the development of POAG in the Spanish population.											
146181	Y	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		2	2p21	CYP1B1	38148249	38156796		Abnet, C. C.  et al. 2006	16864595				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Brazil	CDC GDP info	1545	Hs.154654			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		601771		CDC	2006												
146182		mamographic density	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Warren, R.  et al. 2006	16896040				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	European		CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		601771		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
146183		estradiol urinary estrogen metabolites	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Sowers, M. R.  et al. 2006	16949388				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	1545	Hs.154654			Am J Med    2006    119(9 Suppl 1)    S44-51	CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal		601771		CDC	2006												
146184	N	menopause	REPRODUCTION	REP	Hot Flashes	2	2p21	CYP1B1	38148249	38156796		Woods, N. F.  et al. 2006	16977255				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Menopause    2006	Polymorphisms in the estrogen synthesis and metabolism pathways and symptoms during the menopausal transition		601771		CDC	2006	These findings suggest a possible role for CYP19 polymorphisms in estrogen levels and in vasomotor symptoms during the menopausal transition that warrants further study in larger and more diverse populations of women.											
146185	Y	pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Karypidis, A. H.  et al. 2006	16978616	Val432Leu			Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Sweden	CDC GDP info	1545	Hs.154654			Fertil Steril    2006	Association of cytochrome P450 1B1 polymorphism with first-trimester miscarriage		601771		CDC	2006	CYP1B1 Val432Leu polymorphism is associated with first-trimester miscarriage, and it may also modify the risk among coffee drinkers.		alcohol caffeine nausea smoking (tobacco)									
146188		phenanthrene metabolite ratios, urinary	METABOLIC	MET	Lung Neoplasms	2	2p21	CYP1B1	38148249	38156796		Hecht, S. S.  et al. 2006	17035385				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1805-11	Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers		601771		CDC	2006												
146189		breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Paracchini, V.  et al. 2006	17053044				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian		CDC GDP info	1545	Hs.154654			Am J Epidemiol    2006	Meta- and Pooled Analyses of the Cytochrome P-450 1B1 Val432Leu Polymorphism and Breast Cancer		601771		CDC	2006												
146190		breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Sillanpaa, P.  et al. 2006	17063266				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian;Finnish		CDC GDP info	1545	Hs.154654			Breast Cancer Res Treat    2006	CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population		601771		CDC	2006			smoking (tobacco)									
146191	N	sex hormones	PHARMACOGENOMIC	PHARM	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Abrahamson, P. E.  et al. 2006	17077994				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	non-Hispanic		CDC GDP info	1545	Hs.154654			Breast Cancer Res Treat    2006	Associations between the CYP17, CYPIB1, COMT and SHBG polymorphisms and serum sex hormones in post-menopausal breast cancer survivors		601771		CDC	2006			tamoxifen									
146193		androgens estradiol estrogens hot flashes progesterone	METABOLIC	MET	Hot Flashes	2	2p21	CYP1B1	38148249	38156796		Schilling, C.  et al. 2006	17187946				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Maturitas    2006	Genetic polymorphisms, hormone levels, and hot flashes in midlife women		601771		CDC	2006	Some genetic polymorphisms may be associated with altered levels of hormones in midlife women.											
146194	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Berndt, S. I.  et al. 2007	17220347				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	non-Hispanic		CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		601771		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
146195		breast cancer paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Marsh, S.  et al. 2007	17224914				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Pharmacogenomics J    2007	Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer		601771		CDC	2007			paclitaxel									
146196	Y	estrogens	OTHER	OTH		2	2p21	CYP1B1	38148249	38156796		McCann, S. E.  et al. 2007	17301257				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(2)    256-62	Changes in 2-Hydroxyestrone and 16{alpha}-Hydroxyestrone Metabolism with Flaxseed Consumption		601771		CDC	2007	changes in estrogen metabolism after phytoestrogen exposure differs by hormone metabolizing genotype		flaxseed									
146198		breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Rebbeck, T. R.  et al. 2007	17372239				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	African American;European	Pennsylvania	CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		601771		CDC	2007												
146199		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2p21	CYP1B1	38148249	38156796		Holt, S. K.  et al. 2007	17372243				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Caucasian	United States	CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(3)    481-9	Ovarian cancer risk and polymorphisms involved in estrogen catabolism		601771		CDC	2007												
146200		PAH-DNA adducts	METABOLIC	MET	DNA Damage	2	2p21	CYP1B1	38148249	38156796		Garte, S.  et al. 2007	17403528				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	European		CDC GDP info	1545	Hs.154654			Mutat Res    2007	Effects of metabolic genotypes on intermediary biomarkers in subjects exposed to PAHS		601771		CDC	2007												
146201	N	breast cancer	CANCER	CAN	Breast Neoplasms	2	2p21	CYP1B1	38148249	38156796		Long, J. R.  et al. 2007	17429315				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Pharmacogenet Genomics    2007    17(5)    331-8	Genetic polymorphisms in estrogen-metabolizing genes and breast cancer survival		601771		CDC	2007	Results from this study suggest that rs4680 in the COMT gene and rs4646903 in the CYP1A1 gene may be genetic markers for breast cancer prognosis in Chinese women.											
146203		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Dick, F.  et al. 2007	17449559				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	European		CDC GDP info	1545	Hs.154654			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		601771		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
146204	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Matyjasik, J.  et al. 2007	17458695				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Breast Cancer Res Treat    2007	CYP1B1 and predisposition to breast cancer in Poland		601771		CDC	2007	The CYP1B1 gene appears to influence breast cancer susceptibility in Poland.											
146205		bladder cancer leukemia, myeloid lung cancer	CANCER	CAN	Leukemia, Myeloid|Lung Neoplasms|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Vineis, P. et al.  et al. 2007	17496311				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	European		CDC GDP info	1545	Hs.154654			Ann Oncol    2007	Genetic susceptibility according to three metabolic pathways in cancers of the lung and bladder and in myeloid leukemias in nonsmokers		601771		CDC	2007			smoking (tobacco)									
146207		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Cunningham, J. M.  et al. 2007	17507624				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		601771		CDC	2007												
146208		glaucoma	VISION	VIS		2	2p21	CYP1B1	38148249	38156796		Chitsazian, F.  et al. 2007	17513330				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Iranian		CDC GDP info	1545	Hs.154654			J Mol Diagn    2007	CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes		601771		CDC	2007												
146210	N	endometriosis	REPRODUCTION	REP	Ovarian Cysts|Endometriosis|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Cho, Y. J.  et al. 2007	17562158				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Korean		CDC GDP info	1545	Hs.154654			J Assist Reprod Genet    2007	Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women		601771		CDC	2007	These results suggest that CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis in Korean women.											
146211	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	2	2p21	CYP1B1	38148249	38156796		Kumar, A.  et al. 2007	17563717				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Indian		CDC GDP info	1545	Hs.154654			Mol Vis    2007    13    667-76	Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma		601771		CDC	2007	This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients.											
146212		breast cancer	CANCER	CAN		2	2p21	CYP1B1	38148249	38156796		Justenhoven, C.  et al. 2007	17588204				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	German		CDC GDP info	1545	Hs.154654			Breast Cancer Res Treat    2007	Breast cancer		601771		CDC	2007			body mass									
146214		glaucoma	VISION	VIS	Glaucoma	2	2p21	CYP1B1	38148249	38156796		Chitsazian, F.  et al. 2007	17591938				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	Iranian		CDC GDP info	1545	Hs.154654			J Mol Diagn    2007    9(3)    382-93	CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes		601771		CDC	2007												
146215	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Fan, C.  et al. 2007	17603900	CYP1B1 1294G			Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		601771		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)	CYP1B1	CYP1B1 1294G	SULT1A1	SULT1A1*2					
146216	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Bethke, L.  et al. 2007	17615053				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		601771		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146217		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398			16427797				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Portuguese		CDC GDP info	1589	Hs.278430			Mol Genet Metab    2006	CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia		201910		CDC	2006												
146219	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	6	6p21.3	CYP21A2	32114060	32117398		Xin, X.  et al. 2006	16648810				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987		China	CDC GDP info	1589	Hs.278430			Neuro Endocrinol Lett    2006    27(1-2)	Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls		201910		CDC	2006	Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.											
146220	Y	hyperandrogenism	METABOLIC	MET	Adrenal Hyperplasia, Congenital|Hyperandrogenism	6	6p21.3	CYP21A2	32114060	32117398		Admoni, O.  et al. 2006	16712666				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Israeli		CDC GDP info	1589	Hs.278430			Clin Endocrinol (Oxf)    2006    64(6)    645-651	Hyperandrogenism in carriers of CYP21 mutations		201910		CDC	2006	Our findings are the first to show that there is increased risk of androgen excess in carriers of CYP21 mutations and that the risk is related to genotype.											
146221	Y	gestational age	REPRODUCTION	REP	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Gidlof, S.  et al. 2006	17047018				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987			CDC GDP info	1589	Hs.278430			J Clin Endocrinol Metab    2006	Gestational age correlates to genotype in girls with CYP21 deficiency		201910		CDC	2006	Female patients with severe CYP21 deficiency had longer GA than patients with the milder form of the disease, indicating that androgen excess, increased 17-hydroxyprogesterone levels, or cortisol deficiency or a combination of these factors is of importance for prolongation of pregnancy. The same correlation was not observed for male patients. The results of this study support the notion that steroid hormones affect the prolongation of pregnancy or onset of labor or both.											
146222		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Wilson, R. C.  et al. 2007	17275379				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Ashkenazi;Indian;Iranian		CDC GDP info	1589	Hs.278430			Mol Genet Metab    2007	Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency		201910		CDC	2007												
146224		asthma	IMMUNE	IMM	Asthma	20	20q13	CYP24A1	52203394	52223931		Wjst, M.  et al. 2006	16600026				Cytochrome P450, family 24, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000782	German		CDC GDP info	1591	Hs.89663			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		126065		CDC	2006												
146225	N	breast cancer	CANCER	CAN	Breast Neoplasms	20	20q13	CYP24A1	52203394	52223931		McCullough, M. L.  et al. 2007	17244366				Cytochrome P450, family 24, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000782			CDC GDP info	1591	Hs.89663			Breast Cancer Res    2007    9(1)    R9	Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer		126065		CDC	2007	We found no overall association between selected vitamin D pathway genes and postmenopausal breast cancer risk.		calcium									
146226		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Vitamin D Deficiency|Genetic Predisposition to Disease	20	20q13	CYP24A1	52203394	52223931		Bailey, R.  et al. 2007	17606874				Cytochrome P450, family 24, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000782			CDC GDP info	1591	Hs.89663			Diabetes    2007	Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes		126065		CDC	2007	The present data provides evidence that common inherited variation in the vitamin D metabolism affects susceptibility to type 1 diabetes.											
146227	N	caudal regression syndrome	OTHER	OTH		10	10q23-q24	CYP26A1	94823221	94827631		De Marco, P.  et al. 2006	16463413				Cytochrome P450, family 26, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000783.2			CDC GDP info	1592	Hs.150595			Birth Defects Res A Clin Mol Teratol    2006	Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome		602239		CDC	2006	Our research did not provide evidence that CYP26A1 has implications for the pathogenesis of human CRS.											
146228	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	10	10q23-q24	CYP26A1	94823221	94827631		Rat, E.  et al. 2006	16933217				Cytochrome P450, family 26, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000783.2	Caucasian;French;Italian		CDC GDP info	1592	Hs.150595			Birth Defects Res A Clin Mol Teratol    2006    76(6)    491-498	Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida		602239		CDC	2006	Despite the fact that our findings could not show any evidence that the CYP26A1 genetic polymorphism has implications in the pathogenesis of spina bifida, this work represents the first description of a functional genetic polymorphism affecting the coding sequence of the human CYP26A1 gene.											
146229	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	2	2p13.2	CYP26B1	72209874	72228471		Rat, E.  et al. 2006	16933217				Cytochrome P450, family 26, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019885.2	Caucasian;French;Italian		CDC GDP info	56603	Hs.91546			Birth Defects Res A Clin Mol Teratol    2006    76(6)    491-498	Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida		605207		CDC	2006	Despite the fact that our findings could not show any evidence that the CYP26A1 genetic polymorphism has implications in the pathogenesis of spina bifida, this work represents the first description of a functional genetic polymorphism affecting the coding sequence of the human CYP26A1 gene.											
146230	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	10	10q23.33	CYP26C1	94811010	94818444		Rat, E.  et al. 2006	16933217				Cytochrome P450, family 26, subfamily C, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK131099	Caucasian;French;Italian		CDC GDP info	340665	Hs.369993			Birth Defects Res A Clin Mol Teratol    2006    76(6)    491-498	Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida		608428		CDC	2006	Despite the fact that our findings could not show any evidence that the CYP26A1 genetic polymorphism has implications in the pathogenesis of spina bifida, this work represents the first description of a functional genetic polymorphism affecting the coding sequence of the human CYP26A1 gene.											
146231		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Vitamin D Deficiency|Genetic Predisposition to Disease	12	12q13.1-q13.3	CYP27B1	56442383	56447243		Bailey, R.  et al. 2007	17606874				Cytochrome P450, family 27, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000785.3			CDC GDP info	1594	Hs.524528			Diabetes    2007	Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes		264700		CDC	2007	The present data provides evidence that common inherited variation in the vitamin D metabolism affects susceptibility to type 1 diabetes.											
146232	Y	uterine fibroids	OTHER	OTH	Leiomyomatosis|Uterine Neoplasms	19	19q13.2	CYP2A13	46286207	46293939		Herr, D.  et al. 2006	16835796				Cytochrome P450, family 2, subfamily A, polypeptide 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000766.3	Caucasian		CDC GDP info	1553	Hs.567252			Arch Gynecol Obstet    2006	Cytochrome P2A13 and P1A1 gene polymorphisms are associated with the occurrence of uterine leiomyoma		608055		CDC	2006	The CYP 2A13 and CYP 1A1 SNPs are associated with uterine leiomyoma in a Caucasian population and may contribute to the understanding of the pathogenic mechanisms of uterine leiomyoma.											
146233			NORMALVARIATION	NV		19	19q13.2	CYP2A6	46041283	46048180		Hamajima, N.  et al. 2002	12164325				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		122720		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
146235	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Substance Withdrawal Syndrome|Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180		Kubota, T.  et al. 2006	16402086				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Pharmacogenomics J    2006    6(2)    115-9	CYP2A6 polymorphisms are associated with nicotine dependence and influence withdrawal symptoms in smoking cessation		122720		CDC	2006												
146236		nicotine levels smoking behavior	PHARMACOGENOMIC	PHARM	Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180			16402128				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Caucasian		CDC GDP info	1548	Hs.439056			Mol Psychiatry    2006	Impact of CYP2A6 genotype on pretreatment smoking behaviour and nicotine levels from and usage of nicotine replacement therapy		122720		CDC	2006			nicotine replacement therapy									
146237	Y	smoking behavior	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Minematsu, N.  et al. 2006	16452582				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Asian	Japan	CDC GDP info	1548	Hs.439056			Eur Respir J    2006    27(2)    289-92	Limitation of cigarette consumption by CYP2A6*4, *7 and *9 polymorphisms		122720		CDC	2006	polymorphisms *4, *7 and *9 of CYP2A6 were detected in approximately three out of four Japanese smokers, and their daily cigarette consumption was genetically modulated by these functional polymorphisms.											
146238			NORMALVARIATION	NV		19	19q13.2	CYP2A6	46041283	46048180		Rossini, A.  et al. 2006	16470306				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Brazilian;Caucasian	Brazil	CDC GDP info	1548	Hs.439056			Braz J Med Biol Res    2006    39(2)    195-201	CYP2A6 and CYP2E1 polymorphisms in a Brazilian population living in Rio de Janeiro		122720		CDC	2006												
146241		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Nakajima, M.  et al. 2006	16952495				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Japanese;Korean		CDC GDP info	1548	Hs.439056			Clin Pharmacol Ther    2006    80(3)    282-297	Comprehensive evaluation of variability in nicotine metabolism and CYP2A6 polymorphic alleles in four ethnic populations		122720		CDC	2006												
146242	Y	nicotine smoking behavior	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2A6	46041283	46048180		Johnstone, E.  et al. 2006	17015050				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Clin Pharmacol Ther    2006    80(4)    319-330	Determinants of the rate of nicotine metabolism and effects on smoking behavior		122720		CDC	2006	In this cohort the rate of nicotine metabolism is related to age, sex, CYP2A6 genotype, and CYP2B6 genotype and may affect the level of tobacco consumption.		nicotine replacement therapy									
146243	P		NORMALVARIATION	NV		19	19q13.2	CYP2A6	46041283	46048180		Takeshita, H.  et al. 2006	17036930				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4		Namibia|Turkey|	CDC GDP info	1548	Hs.439056			Hum Biol    2006    78(2)    235-42	CYP2A6 polymorphism reveals differences in Japan and the existence of a specific variant in Ovambo and Turk populations		122720		CDC	2006												
146245		nicotine smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180		Audrain-McGovern, J.  et al. 2006	17130279				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	European		CDC GDP info	1548	Hs.439056			Pediatrics    2006	The Role of CYP2A6 in the Emergence of Nicotine Dependence in Adolescents		122720		CDC	2006	These findings may help to promote a better understanding of the biology of smoking behavior and the emergence of nicotine dependence in adolescents and inform future work aimed at understanding the complex interplay between genetic, social, and psychological factors in adolescent smoking behavior.											
146246		coumarin pharmacokinetics nicotine	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2A6	46041283	46048180		Peamkrasatam, S.  et al. 2006	17220563				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Drug Metab Pharmacokinet    2006    21(6)    475-84	In vivo Evaluation of Coumarin and Nicotine as Probe Drugs to Predict the Metabolic Capacity of CYP2A6 Due to Genetic Polymorphism in Thais		122720		CDC	2006												
146247		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	CYP2A6	46041283	46048180		Gemignani, F.  et al. 2007	17259654				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Carcinogenesis    2007	Development of lung cancer before the age of 50		122720		CDC	2007												
146249	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180		Strasser, A. A.  et al. 2007	17454707				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Nicotine Tob Res    2007    9(4)    511-8	An association of CYP2A6 genotype and smoking topography		122720		CDC	2007	indicated that CYP2A6 genotype group had a significant effect on mean puff volume and total puff volume, but not number of puffs, such that slow metabolizers exhibited reduced puffing compared with others.											
146250		nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Mwenifumbo, J. C.  et al. 2007	17522595				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Clin Pharmacol Ther    2007	Identification of Novel CYP2A6*1B Variants		122720		CDC	2007												
146251		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Rodriguez-Novoa, S.  et al. 2005	15825040				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Infect Dis    2005    40(9)    1358-61	Influence of 516G>T polymorphisms at the gene encoding the CYP450-2B6 isoenzyme on efavirenz plasma concentrations in HIV-infected subjects		123930		CDC	2005												
146252	N	methadone pharmacokinetics methadone treatment outcome	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	19	19q13.2	CYP2B6	46189043	46216141		Crettol, S.  et al. 2005	16338275				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Pharmacol Ther    2005    78(6)    593-604	Methadone enantiomer plasma levels, CYP2B6, CYP2C19, and CYP2C9 genotypes, and response to treatment		123930		CDC	2005	Although CYP2B6 influences (S)-methadone plasma levels, given that only (R)-methadone contributes to the opioid effect of this drug, a major influence of CYP2B6 genotype on response to treatment is unlikely and has not been shown in this study. Lower plasma levels of methadone in nonresponders, suggesting a higher clearance, and higher peak-to-trough ratios,											
146253	N	efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Burger, D.  et al. 2006	16433869				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Caucasian		CDC GDP info	1555	Hs.1360			Br J Clin Pharmacol    2006    61(2)    148-54	Interpatient variability in the pharmacokinetics of the HIV non-nucleoside reverse transcriptase inhibitor efavirenz		123930		CDC	2006	Gender and race are important factors in determining interpatient variability in plasma efavirenz concentrations which were unaffected by the presence of the CYP2B6 C1459T polymorphism.											
146254			INFECTION	INF	Malaria	19	19q13.2	CYP2B6	46189043	46216141		Mehlotra, R. K.  et al. 2006	16506047				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Japanese;Caucasian	Africa|Papua New Guinea	CDC GDP info	1555	Hs.1360			Eur J Clin Pharmacol    2006	Prevalence of CYP2B6 alleles in malaria-endemic populations of West Africa and Papua New Guinea		123930		CDC	2006	CYP2B6 variants, previously shown to affect metabolism of a variety of drugs, occur in WA and PNG, and there are significant genetic differences at the CYP2B6 locus in these populations.											
146255		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	19	19q13.2	CYP2B6	46189043	46216141			16538176				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		123930		CDC	2006												
146256		platelet aggregation	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Hulot, J. S.  et al. 2006	16772608				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Blood    2006	Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects		123930		CDC	2006			clopidogrel									
146258		nevirapine hepatotoxicity	PHARMACOGENOMIC	PHARM	HIV Infections|Liver Diseases	19	19q13.2	CYP2B6	46189043	46216141		Haas, D. W.  et al. 2006	16912957				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Infect Dis    2006    43(6)    783-6	Pharmacogenetics of nevirapine-associated hepatotoxicity		123930		CDC	2006												
146259	P		NORMALVARIATION	NV		19	19q13.2	CYP2B6	46189043	46216141		Guan, S.  et al. 2006	16951995				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Chinese;Caucasian	China	CDC GDP info	1555	Hs.1360			Pharm Res    2006    23(9)    1983-1990	Intra- and Inter-ethnic Differences in the Allele Frequencies of Cytochrome P450 2B6 Gene in Chinese		123930		CDC	2006												
146260	Y	nicotine smoking behavior	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Johnstone, E.  et al. 2006	17015050				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Pharmacol Ther    2006    80(4)    319-330	Determinants of the rate of nicotine metabolism and effects on smoking behavior		123930		CDC	2006	In this cohort the rate of nicotine metabolism is related to age, sex, CYP2A6 genotype, and CYP2B6 genotype and may affect the level of tobacco consumption.		nicotine replacement therapy									
146262	Y	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	19	19q13.2	CYP2B6	46189043	46216141		Crettol, S.  et al. 2006	17178267				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		123930		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146264		efavirenz pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Rotger, M.  et al. 2007	17235330				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Pharmacol Ther    2007	Predictive Value of Known and Novel Alleles of CYP2B6 for Efavirenz Plasma Concentrations in HIV-infected Individuals		123930		CDC	2007												
146265		ovarian toxicity, cyclophosphamide-related premature menopause, cyclophosphamide-related	PHARMACOGENOMIC	PHARM		19	19q13.2	CYP2B6	46189043	46216141		Singh, G.  et al. 2007	17309129				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Indian		CDC GDP info	1555	Hs.1360			J Rheumatol    2007	Cytochrome P450 Polymorphism as a Predictor of Ovarian Toxicity to Pulse Cyclophosphamide in Systemic Lupus Erythematosus		123930		CDC	2007	Presence of the variant allele CYP2C19*2 is associated with lower risk of ovarian toxicity in Indian patients treated with CYC.											
146266		EKG, abnormal	PHARMACOGENOMIC	PHARM	Long QT Syndrome	19	19q13.2	CYP2B6	46189043	46216141		Eap, C. B.  et al. 2007	17329992				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Clin Pharmacol Ther    2007	Stereoselective Block of hERG Channel by (S)-Methadone and QT Interval Prolongation in CYP2B6 Slow Metabolizers		123930		CDC	2007			methadone									
146267	Y	nevaprine pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Penzak, S.  et al. 2007	17352764	CYP2B6 G516T			Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Caucasian;European		CDC GDP info	1555	Hs.1360			HIV Med    2007    8(2)    86-91	Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda		123930		CDC	2007	CYP2B6 G516T significantly influenced nevirapine trough concentrations in HIV-infected patients in Uganda. Additional studies in larger patient populations are necessary to further define the potential clinical impact of these preliminary findings.											
146268	Y	efavirenz pharmacokinetics HIV	PHARMACOGENOMIC	PHARM	HIV Infections	19	19q13.2	CYP2B6	46189043	46216141		Saitoh, A.  et al. 2007	17356468	CYP2B6-G516T			Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			J Acquir Immune Defic Syndr    2007	Efavirenz Pharmacokinetics in HIV-1-Infected Children Are Associated With CYP2B6-G516T Polymorphism		123930		CDC	2007	CYP2B6-G516T polymorphisms significantly affect the CL/F rate of EFV in children. Changes in hepatic enzyme activity by age may need to be considered when evaluating the impact of genetic variants on antiretroviral pharmacokinetics in children.		efavirenz									
146269	P		NORMALVARIATION	NV	HIV Infections|Acquired Immunodeficiency Syndrome	19	19q13.2	CYP2B6	46189043	46216141		Mehlotra, R. K.  et al. 2007	17391322				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Caucasian		CDC GDP info	1555	Hs.1360			Br J Clin Pharmacol    2007	CYP2B6 983T>C polymorphism is prevalent in West Africa but absent in Papua New Guinea		123930		CDC	2007	Significant interethnic differences occur at the CYP2B6 locus, which may influence treatment outcomes with efavirenz.											
146270		ovarian toxicity	PHARMACOGENOMIC	PHARM	Ovarian Failure, Premature|Lupus Erythematosus, Systemic	19	19q13.2	CYP2B6	46189043	46216141		Singh, G.  et al. 2007	17407229				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Indian		CDC GDP info	1555	Hs.1360			J Rheumatol    2007    34(4)    731-3	Cytochrome p450 polymorphism as a predictor of ovarian toxicity to pulse cyclophosphamide in systemic lupus erythematosus		123930		CDC	2007	Presence of the variant allele CYP2C19*2 is associated with lower risk of ovarian toxicity in Indian patients treated with CYC.											
146272	Y	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	19	19q13.2	CYP2B6	46189043	46216141		Nakajima, M.  et al. 2007	17502835				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		123930		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
146273		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C18	96433367	96485514		Wadelius, M.  et al. 2006	17048007				Cytochrome P450, family 2, subfamily C, polypeptide 18	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M61853			CDC GDP info	1562	Hs.511872			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism				CDC	2006												
146274	P		CANCER	CAN	Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		124020		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146275		methadone pharmacokinetics methadone treatment outcome	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Crettol, S.  et al. 2005	16338275				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2005    78(6)    593-604	Methadone enantiomer plasma levels, CYP2B6, CYP2C19, and CYP2C9 genotypes, and response to treatment		124020		CDC	2005	Although CYP2B6 influences (S)-methadone plasma levels, given that only (R)-methadone contributes to the opioid effect of this drug, a major influence of CYP2B6 genotype on response to treatment is unlikely and has not been shown in this study. Lower plasma levels of methadone in nonresponders, suggesting a higher clearance, and higher peak-to-trough ratios,											
146276	N	gastroesophageal reflux disease	PHARMACOGENOMIC	PHARM	Gastroesophageal Reflux	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Schwab, M.  et al. 2005	16338278				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2005    78(6)    627-34	Esomeprazole-induced healing of gastroesophageal reflux disease is unrelated to the genotype of CYP2C19		124020		CDC	2005	In contrast to other PPIs, esomeprazole-induced healing of GERD is unrelated to the CYP2C19 genotype, which can be explained by the metabolic shift toward the CYP3A4-mediated pathway.		esomeprazole									
146277	Y	anesthesia effects diazepam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Inomata, S.  et al. 2005	16338280				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2005    78(6)    647-55	CYP2C19 genotype affects diazepam pharmacokinetics and emergence from general anesthesia		124020		CDC	2005	We found that the CYP2C19 genotype affects diazepam pharmacokinetics and emergence from general anesthesia and that the slow-emergence group possesses lower levels of CYP3A4 mRNA than are found in the rapid-emergence group.											
146278	Y	omeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661			16413245				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Ethiopia|China|Sweden	CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    79(1)    103-113	A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants		124020		CDC	2006	CYP2C19*17 is likely to cause therapeutic failures in drug treatment with, for example, proton pump inhibitors and antidepressants.											
146279	Y	rabeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Uno, T.  et al. 2006	16487224				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Br J Clin Pharmacol    2006    61(3)    309-14	Different effects of fluvoxamine on rabeprazole pharmacokinetics in relation to CYP2C19 genotype status		124020		CDC	2006	The present study indicates that there are significant drug interactions between rabeprazole and fluvoxamine in EMs of CYP2C19.		fluvoxamine									
146280	Y	rabeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2006	16487225				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Br J Clin Pharmacol    2006    61(3)    315-20	Enantioselective disposition of rabeprazole in relation to CYP2C19 genotypes		124020		CDC	2006	(R)-Rabeprazole disposition was influenced to a greater degree by CYP2C19 genetic polymorphisms than was that of (S)-rabeprazole. The effect of CYP2C19 polymorphisms on the stereoselective disposition of rabeprazole was less than those of lansoprazole and omeprazole.											
146281		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Honda, M.  et al. 2006	16595916				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		124020		CDC	2006												
146283		H. pylori infection	PHARMACOGENOMIC	PHARM	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Suzuki, T.  et al. 2006	16740190				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Epidemiol Infect    2006        1-6	Influence of smoking and CYP2C19 genotypes on H. pylori eradication success		124020		CDC	2006			amoxycillin clarithromycin lansoprazole smoking (tobacco)									
146284			NORMALVARIATION	NV		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Bosch, T. M.  et al. 2006	16771603				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Caucasian		CDC GDP info	1557	Hs.282409			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		124020		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146285		platelet aggregation	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hulot, J. S.  et al. 2006	16772608				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Blood    2006	Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects		124020		CDC	2006			clopidogrel									
146286	N	rabeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Shimizu, M.  et al. 2006	16783561				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Eur J Clin Pharmacol    2006	Effects of clarithromycin and verapamil on rabeprazole pharmacokinetics between CYP2C19 genotypes		124020		CDC	2006	The pharmacokinetic parameters of rabeprazole were not altered by clarithromycin or verapamil irrespective of the CYP2C19 genotypes.											
146287	Y	phenobarbital pharmacokinetics phenytoin pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yukawa, E.  et al. 2006	16789993				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Asian	Japan	CDC GDP info	1557	Hs.282409			J Clin Pharm Ther    2006    31(3)    275-82	Effect of CYP2C19 genetic polymorphism on pharmacokinetics of phenytoin and phenobarbital in Japanese epileptic patients using Non-linear Mixed Effects Model approach		124020		CDC	2006	These findings indicated that the genetic polymorphisms of CYP2C19 contribute to the pharmacokinetic variability of phenytoin and phenobarbital, the poor metabolizers of CYP2C19, which are relatively common in Asian groups.											
146288		depression schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kropp, S.  et al. 2006	16812949				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Lab    2006    52(5-6)    237-40	Cytochrome P-450 2D6 and 2C19 polymorphisms and length of hospitalization in psychiatry		124020		CDC	2006			psychotropic drugs									
146289	P		NORMALVARIATION	NV		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Luo, H. R.  et al. 2006	16815315				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	African American;Mexican;Mexican American		CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(1)    33-40	Genetic polymorphism of cytochrome P450 2C19 in Mexican Americans		124020		CDC	2006	This is the first study to investigate CYP2C19 polymorphism in Mexican Americans.											
146290		H. pylori infection	PHARMACOGENOMIC	PHARM	Gastritis|Stomach Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sugimoto, M.  et al. 2006	16815316				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(1)    41-50	Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy		124020		CDC	2006	IL1B -511 polymorphism, but not IL1RN, TNFA, or IL10 polymorphism, is one of the determinants of triple therapy for clarithromycin-sensitive strains of H pylori in CYP2C19 homozygous EMs.		amoxycillin clarithromycin lansoprazole omeprazole rabeprazole									
146291		citalopram pharmacokinetics	PHARMACOGENOMIC	PHARM	Mood Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yin, O. Q.  et al. 2006	16855453				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Clin Psychopharmacol    2006    26(4)    367-372	Phenotype-genotype Relationship and Clinical Effects of Citalopram in Chinese Patients		124020		CDC	2006												
146292		H. pylori infection	PHARMACOGENOMIC	PHARM	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Padol, S.  et al. 2006	16863547				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Am J Gastroenterol    2006    101(7)    1467-75	The Effect of CYP2C19 Polymorphisms on H. pylori Eradication Rate in Dual and Triple First-Line PPI Therapies		124020		CDC	2006	The impact of CYP2C19 polymorphisms on H.		lansoprazole omeprazole rabeprazole									
146293	N	phenytoin	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Rosemary, J.  et al. 2006	16873909				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Indian J Med Res    2006    123(5)    665-70	Influence of the CYP2C9 & CYP2C19 polymorphisms on phenytoin hydroxylation in healthy individuals from south India		124020		CDC	2006	CYP2C9*2 and *3 mutant alleles caused decreased hydroxylation of phenytoin in vivo, whereas the mutant alleles of CYP2C19 played only a minor role in the metabolism of phenytoin in subjects of our study. The results of present preliminary study needs to be confirmed with a larger sample.											
146294		voriconazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Mikus, G.  et al. 2006	16890574				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(2)    126-35	Potent cytochrome P450 2C19 genotype-related interaction between voriconazole and the cytochrome P450 3A4 inhibitor ritonavir		124020		CDC	2006	Coadministration of a potent CYP3A4 inhibitor leads to a higher and prolonged exposure with voriconazole that might increase the risk of the development of adverse drug reactions on a short-term basis, particularly in CYP2C19 PM patients.											
146295	N	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Obayashi, K.  et al. 2006	16890578				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1		Japan	CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(2)    169-78	VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients		124020		CDC	2006	The ethnic difference in warfarin maintenance dose was mainly dependent on the linked VKORC1 variants.											
146296	N	reflux esophagitis	PHARMACOGENOMIC	PHARM	Helicobacter Infections|Esophagitis, Peptic|Hernia, Hiatal	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ariizumi, K.  et al. 2006	16911688				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Gastroenterol Hepatol    2006    21(9)    1428-34	Therapeutic effects of 10 mg/day rabeprazole administration on reflux esophagitis was not influenced by the CYP2C19 polymorphism		124020		CDC	2006	The therapeutic effects of 10 mg/day RPZ administration on RE may be uninfluenced by the CYP2C19 polymorphism.		rabeprazole									
146297		H. pylori infection	PHARMACOGENOMIC	PHARM	Peptic Ulcer	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kurzawski, M.  et al. 2006	16912869				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Eur J Clin Pharmacol    2006	Effect of CYP2C19*17 gene variant on Helicobacter pylori eradication in peptic ulcer patients		124020		CDC	2006	Our results suggest that, contrary to CYP2C19*2, CYP2C19*17 allele has no impact on efficacy of H. pylori eradication in peptic ulcer patients treated with pantoprazole.		amoxycillin metronidazole pantoprazole									
146298			NORMALVARIATION	NV		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Liou, Y. H.  et al. 2006	16924387				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Hum Genet    2006	The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population		124020		CDC	2006												
146299	Y	rabeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Hu, Y. M.  et al. 2006	16937451				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			World J Gastroenterol    2006    12(29)    4750-3	Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans		124020		CDC	2006	In Chinese Han healthy people, the pharmacokinetics of rabeprazole are dependent on the CYP2C19 genotype status, but acid-inhibitory efficacy of rabeprazole and the gastrin level are not influenced significantly.											
146300	P		NORMALVARIATION	NV		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Tassaneeyakul, W.  et al. 2006	16946555				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Asian		CDC GDP info	1557	Hs.282409			Drug Metab Pharmacokinet    2006    21(4)    286-90	CYP2C19 Genetic Polymorphism in Thai, Burmese and Karen Populations		124020		CDC	2006												
146301		essential tremor primidone toxicity	PHARMACOGENOMIC	PHARM	Essential Tremor|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Alonso-Navarro, H.  et al. 2006	16960452				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Eur Neurol    2006    56(2)    119-123	CYP2C19 Polymorphism and Risk for Essential Tremor		124020		CDC	2006												
146303	Y	gastroesophageal reflux disease	UNKNOWN	UNK		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sohn, Y. H.  et al. 2006	17047431				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Korean J Gastroenterol    2006    48(3)    162-71	Influence of CYP2C19 polymorphism and Helicobacter pylori status on the antisecretory effect of omeprazole in gastroesophageal reflux disease		124020		CDC	2006	The acid suppressive effect of OMP on intragastric pH is dependent on CYP2C19 polymorphism and the H.		Helicobacter pylori									
146305		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Wadelius, M.  et al. 2006	17048007				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		124020		CDC	2006												
146306		personality traits	PSYCH	PSY		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Ishii, G.  et al. 2007	17052843				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Neurosci Lett    2007    411(1)    77-80	CYP2C19 polymorphism affects personality traits of Japanese females		124020		CDC	2007												
146307		acid inhibition	PHARMACOGENOMIC	PHARM	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Sugimoto, M.  et al. 2006	17112810				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(5)    539-48	Initial 48-hour acid inhibition by intravenous infusion of omeprazole, famotidine, or both in relation to cytochrome P450 2C19 genotype status		124020		CDC	2006	For faster and stronger acid inhibition, the concomitant infusion regimen of a PPI and an H2RA appears to be therapeutically useful in homozygous and heterozygous EMs, but omeprazole alone appears to be sufficient in poor metabolizers of CYP2C19.		famotidine omeprazole									
146308	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Crettol, S.  et al. 2006	17178267				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		124020		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146309			NORMALVARIATION	NV		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Zand, N.  et al. 2007	17201743				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Caucasian;Iranian		CDC GDP info	1557	Hs.282409			Clin Exp Pharmacol Physiol    2007    34(1-2)    102-5	Genetic polymorphisms of cytochrome p450 enzymes 2c9 and 2c19 in a healthy Iranian population		124020		CDC	2007												
146310		omeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Uno, T.  et al. 2007	17203292				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Eur J Clin Pharmacol    2007	Absolute bioavailability and metabolism of omeprazole in relation to CYP2C19 genotypes following single intravenous and oral administrations		124020		CDC	2007	This study indicates that the absolute bioavailability of omeprazole differs among the three different CYP2C19 genotypes after a single dose of omeprazole orally or intravenously.											
146311		H. pylori infection	PHARMACOGENOMIC	PHARM	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Furuta, T.  et al. 2007	17215846				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Pharmacol Ther    2007	Pharmacogenomics-based Tailored Versus Standard Therapeutic Regimen for Eradication of H. pylori		124020		CDC	2007			amoxycillin clarithromycin lansoprazole									
146312	Y	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Tursen, U.  et al. 2007	17269966	CYP2C19*2			Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Int J Dermatol    2007    46(2)    153-6	Cytochrome P450 polymorphisms in patients with Behcet's disease		124020		CDC	2007	We observed that patients with BD presented with a higher prevalence of the heterozygous CYP2C19*2 genotype. Hereditary deficiencies of this enzyme activity may lead to an imbalance between pro- and antioxidant systems, resulting in the formation of excessive reactive oxygen species.											
146313	N	hepatoxicity, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Pachkoria, K.  et al. 2007	17279092				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Spanish;Caucasian		CDC GDP info	1557	Hs.282409			Br J Pharmacol    2007	Genetic polymorphisms of CYP2C9 and CYP2C19 are not related to drug-induced idiosyncratic liver injury (DILI)		124020		CDC	2007	AND IMPLICATIONS: We find no evidence to support CYP2C9 and CYP2C19 genetic polymorphisms as predictable potential risk factors for DILI.											
146314	N	colorectal cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Tamer, L.  et al. 2006	17290075				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	German;Turkish		CDC GDP info	1557	Hs.282409			Int J Gastrointest Cancer    2006    37(1)    1-6	CYP2C19 Polymorphisms in Patients with Gastric and Colorectal Carcinoma		124020		CDC	2006	Although the frequency of CYP2C19*2 heterozygote genotype is high in our patients with gastric and colorectal carcinoma, there is no the relationship between CYP2C19 polymorphism and susceptibility to these cancer.											
146315	Y	esophagitis	PHARMACOGENOMIC	PHARM	Gastroesophageal Reflux|Esophagitis|Recurrence	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Kawamura, M.  et al. 2007	17295875				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Gastroenterol Hepatol    2007    22(2)    222-6	Cytochrome P450 2C19 polymorphism influences the preventive effect of lansoprazole on the recurrence of erosive reflux esophagitis		124020		CDC	2007	The efficacy of LPZ (15 mg/day) as maintenance therapy for erosive RE is influenced by CYP2C19 polymorphism.		lansoprazole									
146317		phenobarbital clearance	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Goto, S.  et al. 2007	17304159				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Ther Drug Monit    2007    29(1)    118-121	Population Estimation of the Effects of Cytochrome P450 2C9 and 2C19 Polymorphisms on Phenobarbital Clearance in Japanese		124020		CDC	2007												
146318	Y	ovarian toxicity, cyclophosphamide-related premature menopause, cyclophosphamide-related	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Singh, G.  et al. 2007	17309129				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Indian		CDC GDP info	1557	Hs.282409			J Rheumatol    2007	Cytochrome P450 Polymorphism as a Predictor of Ovarian Toxicity to Pulse Cyclophosphamide in Systemic Lupus Erythematosus		124020		CDC	2007	Presence of the variant allele CYP2C19*2 is associated with lower risk of ovarian toxicity in Indian patients treated with CYC.											
146319	Y	harm avoidance	PSYCH	PSY		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Yasui-Furukori, N.  et al. 2007	17357148				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Am J Med Genet B Neuropsychiatr Genet    2007	Association between cytochrome P450 (CYP) 2C19 polymorphisms and harm avoidance in Japanese		124020		CDC	2007												
146320	N	lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2007	17358097				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Drug Investig    2007    27(4)    251-8	Influence of Cytochrome P450 (CYP) 3A5 Polymorphisms on the Pharmacokinetics of Lansoprazole Enantiomers in CYP2C19 Extensive Metaboliser Renal Transplant Recipients		124020		CDC	2007	Our findings show that CYP3A5 genotype is not an important determinant of enantioselective disposition of lansoprazole.											
146321		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Miura, M.  et al. 2007	17377957				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Biopharm Drug Dispos    2007    28(4)    167-175	Influence of rabeprazole and lansoprazole on the pharmacokinetics of tacrolimus in relation to CYP2C19, CYP3A5 and MDR1 polymorphisms in renal transplant recipients		124020		CDC	2007												
146322	Y	ovarian toxicity	PHARMACOGENOMIC	PHARM	Ovarian Failure, Premature|Lupus Erythematosus, Systemic	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Singh, G.  et al. 2007	17407229				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Indian		CDC GDP info	1557	Hs.282409			J Rheumatol    2007    34(4)    731-3	Cytochrome p450 polymorphism as a predictor of ovarian toxicity to pulse cyclophosphamide in systemic lupus erythematosus		124020		CDC	2007	Presence of the variant allele CYP2C19*2 is associated with lower risk of ovarian toxicity in Indian patients treated with CYC.											
146323	N	H. pylori infection	PHARMACOGENOMIC	PHARM	Helicobacter Infections	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Garza Gonzalez, E.  et al. 2007	17417917				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Rev Esp Enferm Dig    2007    99(2)    71-75	Helicobacter pylori erradication and its relation to antibiotic resistance and CYP2C19 status		124020		CDC	2007	both 7- and 14-day therapies were effective for H. pylori eradication. Strain resistance and CYP2C19 status do not seem to influence eradication rates in the studied population.		amoxycillin clarithromycin rabeprazole									
146325		omeprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Wang, J. H.  et al. 2007	17439410				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Exp Pharmacol Physiol    2007    34(5-6)    421-4	Cyp2c19 genotype and omeprazole hydroxylation phenotype in chinese li population		124020		CDC	2007												
146326		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Pan, J. H.  et al. 2007	17450472				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Acta Oncol    2007    46(3)    361-6	CYP450 polymorphisms predict clinic outcomes to vinorelbine-based chemotherapy in patients with non-small-cell lung cancer		124020		CDC	2007			vinorelbine									
146327	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Nakajima, M.  et al. 2007	17502835				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		124020		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
146328	Y	indisulam pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Zandvliet, A. S.  et al. 2007	17504998	CYP2C19*2, and CYP2C19*3			Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Cancer Res    2007    13(10)    2970-6	CYP2C9 and CYP2C19 Polymorphic Forms Are Related to Increased Indisulam Exposure and Higher Risk of Severe Hematologic Toxicity		124020		CDC	2007	CYP2C9*3, CYP2C19*2, and CYP2C19*3 polymorphisms resulted in a reduced elimination rate of indisulam. Screening for these CYP2C polymorphisms and subsequent pharmacogenetically guided dose adaptation may assist in the selection of an optimized initial indisulam dosage.											
146329		proton-pump inhibitor testing, accuracy of	PHARMACOGENOMIC	PHARM	Gastroesophageal Reflux|Esophagitis, Peptic	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Lee, Y. C.  et al. 2007	17559380				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			J Gastroenterol Hepatol    2007	Influence of cytochrome P450 2C19 genetic polymorphism and dosage of rabeprazole on accuracy of proton-pump inhibitor testing in Chinese patients with gastroesophageal reflux disease		124020		CDC	2007	Both dose levels of rabeprazole proved efficacious in the diagnosis of GERD.											
146330		phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Lee, S. Y.  et al. 2007	17562299				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Korean		CDC GDP info	1557	Hs.282409			J Biochem Mol Biol    2007    40(3)    448-52	Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting		124020		CDC	2007												
146331		malaria	INFECTION	INF		10	10q23.33	CYP2C8	96786518	96819244		Cavaco, I.  et al. 2005	15674624				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Eur J Clin Pharmacol    2005	CYP2C8 polymorphism frequencies among malaria patients in Zanzibar		601129		CDC	2005	CYP2C8 non-wild type alleles have a significant prevalence in the East African population studied. The consequent frequency of 3.6% of patients homozygous for slow metabolizer alleles represent a significant fraction of the population potentially in higher risk of adverse effects due to a less efficient metabolism of amodiaquine. As approximately 10(6) first-line treatments are currently performed in Zanzibar per year, this represents a non-negligible absolute number of amodiaquine exposures. This information constitutes a background for the pharmacovigilance programs presently being employed in Zanzibar. 											
146332		oral antidiabetic pharacokinetics	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	10	10q23.33	CYP2C8	96786518	96819244		Kirchheiner, J.  et al. 2005	16372821				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Clin Pharmacokinet    2005    44(12)    1209-25	Effect of genetic polymorphisms in cytochrome p450 (CYP) 2C9 and CYP2C8 on the pharmacokinetics of oral antidiabetic drugs		601129		CDC	2005	pharmacogenetic variability plays an important role in the pharmacokinetics of oral antidiabetic drugs; however, to date, the impact of this variability on clinical outcomes in patients is mostly unknown and prospective studies on the medical benefit of CYP genotyping are required.											
146333	P		NORMALVARIATION	NV		10	10q23.33	CYP2C8	96786518	96819244		Cavaco, I.  et al. 2006	16475901				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Caucasian;European;Portuguese	Portugal	CDC GDP info	1558	Hs.282871			Clin Chem Lab Med    2006    44(2)    168-70	CYP2C8 polymorphism among the Portuguese		601129		CDC	2006												
146334		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	10	10q23.33	CYP2C8	96786518	96819244			16538176				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		601129		CDC	2006												
146335		rosiglitazone pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244		Pedersen, R. S.  et al. 2006	16856883				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Br J Clin Pharmacol    2006	The effects of human CYP2C8 genotype and fluvoxamine on the pharmacokinetics of rosiglitazone in healthy subjects		601129		CDC	2006	The importance of the CYP2C8*3 mutation in the in vivo metabolism of rosiglitazone could not be confirmed. Fluvoxamine increased the AUC(0-infinity) and t(1/2) of rosiglitazone moderately and hence may be a weak inhibitor of CYP2C8.											
146337	Y	rosiglitazone pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244		Kirchheiner, J.  et al. 2006	17178266	CYP2C8*3 allele			Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Clin Pharmacol Ther    2006    80(6)    657-667	Pharmacokinetics and pharmacodynamics of rosiglitazone in relation to CYP2C8 genotype		601129		CDC	2006	This study showed that the CYP2C8*3 allele confers higher in vivo metabolic capacity than the wild-type CYP2C8*1 allele but the pharmacokinetic differences resulting from CYP2C8*3 were quantitatively moderate.											
146338		breast cancer paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Breast Neoplasms	10	10q23.33	CYP2C8	96786518	96819244		Marsh, S.  et al. 2007	17224914				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Pharmacogenomics J    2007	Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer		601129		CDC	2007			paclitaxel									
146340	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis|Genetic Predisposition to Disease	10	10q23.33	CYP2C8	96786518	96819244		Lee, C. R.  et al. 2007	17429317				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3	Caucasian	United States	CDC GDP info	1558	Hs.282871			Pharmacogenet Genomics    2007    17(5)    349-358	CYP2J2 and CYP2C8 polymorphisms and coronary heart disease risk		601129		CDC	2007	the I264M, I269F, and K399R polymorphisms in CYP2C8 were not significantly associated with risk of incident coronary heart disease.		smoking (tobacco)									
146341	Y	paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q23.33	CYP2C8	96786518	96819244		Saito, Y.  et al. 2007	17558302				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Pharmacogenet Genomics    2007    17(7)    461-471	CYP2C8 haplotype structures and their influence on pharmacokinetics of paclitaxel in a Japanese population		601129		CDC	2007	CYP2C8*IG group haplotypes were associated with increased area under concentration-time curve of C3\-p-hydroxy-paclitaxel and area under concentration-time curve ratio of C3\-p-hydroxy-paclitaxel/paclitaxel. Thus, *IG group haplotypes might be associated with reduced CYP2C8 activity, possibly through its reduced protein levels.											
146342	P		CANCER	CAN	Neoplasms	10	10q24	CYP2C9	96688429	96739137		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		601130		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146343	N	gastrointestingal health	PHARMACOGENOMIC	PHARM	Gastrointestinal Diseases|Cardiovascular Diseases|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		van Oijen, M. G.  et al. 2005	16305586				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Br J Clin Pharmacol    2005    60(6)    623-8	Polymorphisms in genes encoding acetylsalicylic acid metabolizing enzymes are unrelated to upper gastrointestinal health in cardiovascular patients on acetylsalicylic acid		601130		CDC	2005	There was no association between polymorphisms in genes encoding for acetylsalicylic acid metabolizing enzymes on the prevalence of gastric complaints in cardiovascular patients on acetylsalicylic acid.		acetylsalicyclic acid									
146344	Y	hyperlipidemia	METABOLIC	MET	Hyperlipidemias|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Luo, C. H.  et al. 2005	16305587	CYP2C9*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Br J Clin Pharmacol    2005    60(6)    629-31	Gender specific association of CYP2C9*3 with hyperlipidaemia in Chinese		601130		CDC	2005	The association of CYP2C9*3 with hyperlipidaemia was specific for females in this Chinese population.											
146345		methadone pharmacokinetics methadone treatment outcome	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	10	10q24	CYP2C9	96688429	96739137		Crettol, S.  et al. 2005	16338275				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2005    78(6)    593-604	Methadone enantiomer plasma levels, CYP2B6, CYP2C19, and CYP2C9 genotypes, and response to treatment		601130		CDC	2005	Although CYP2B6 influences (S)-methadone plasma levels, given that only (R)-methadone contributes to the opioid effect of this drug, a major influence of CYP2B6 genotype on response to treatment is unlikely and has not been shown in this study. Lower plasma levels of methadone in nonresponders, suggesting a higher clearance, and higher peak-to-trough ratios,											
146346	Y	glibenclamide pharmacokinetics lornoxicam pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Zhang, Y. F.  et al. 2005	16342679				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Yao Xue Xue Bao    2005    40(9)    796-9	Impact of cytochrome P450 CYP2C9 variant allele CYP2C9 * 3 on the pharmacokinetics of glibenclamide and lornoxicam in Chinese subjects		601130		CDC	2005	CYP2C9 * 3 greatly affects both the pharmacokinetic profiles of glibenclamide and lornoxicam. The elimination of these drugs significantly decreased in subjects with CYP2C9 * 1/ * 3 genotype, especially lornoxicam.											
146347		oral antidiabetic pharacokinetics	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	10	10q24	CYP2C9	96688429	96739137		Kirchheiner, J.  et al. 2005	16372821				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacokinet    2005    44(12)    1209-25	Effect of genetic polymorphisms in cytochrome p450 (CYP) 2C9 and CYP2C8 on the pharmacokinetics of oral antidiabetic drugs		601130		CDC	2005	pharmacogenetic variability plays an important role in the pharmacokinetics of oral antidiabetic drugs; however, to date, the impact of this variability on clinical outcomes in patients is mostly unknown and prospective studies on the medical benefit of CYP genotyping are required.											
146348		coagulation warfarin sensitivity	PHARMACOGENOMIC	PHARM	Heart Diseases	10	10q24	CYP2C9	96688429	96739137			16413010				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Chinese;Caucasian	Taiwan	CDC GDP info	1559	Hs.282624			Clin Chim Acta    2006	CYP2C9 polymorphism and warfarin sensitivity in Taiwan Chinese		601130		CDC	2006	The novel intronic G-65/C mutation appears to be inter-racially different in allelic frequency, and that the anticoagulation was affected in response to warfarin sensitivity in Chinese-Taiwanese patients receiving mitral valve replacement.		warfarin									
146349	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137			16424822				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Japanese;Caucasian		CDC GDP info	1559	Hs.282624			Pharmacogenet Genomics    2006    16(2)    101-110	Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans		601130		CDC	2006	Both VKORC1 and CYP2C9 polymorphisms contribute to inter-population difference in warfarin doses among the three populations, but their contribution to intra-population variability may differ within each population.											
146350	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM	Thromboembolism	10	10q24	CYP2C9	96688429	96739137		Mushiroda, T.  et al. 2006	16432637				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			J Hum Genet    2006	Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients		601130		CDC	2006												
146352		blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	10	10q24	CYP2C9	96688429	96739137			16541193				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Methods Find Exp Clin Pharmacol    2006    28(1)    19-24	CYP2C9 Ile359Leu polymorphism, plasma irbesartan concentration and acute blood pressure reductions in response to irbesartan treatment in Chinese hypertensive patients		601130		CDC	2006			irbesartan									
146353		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Aquilante, C. L.  et al. 2006	16580898				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006    79(4)    291-302	Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements		601130		CDC	2006	Polymorphisms in warfarin drug target and metabolizing enzyme genes, in addition to nongenetic factors, were important determinants of warfarin dose requirements.											
146354		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Honda, M.  et al. 2006	16595916				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		601130		CDC	2006												
146355		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Li, T.  et al. 2006	16611750				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	European		CDC GDP info	1559	Hs.282624			J Med Genet    2006	Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation		601130		CDC	2006	These results are of considerable clinical interest and confirm recently published results regarding the role of these two genes in modifying warfarin metabolism and maintenance dosage.											
146356	N	warfarin sensitivity	PHARMACOGENOMIC	PHARM	Thrombosis	10	10q24	CYP2C9	96688429	96739137		Moridani, M.  et al. 2006	16630605				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Biochem    2006	Frequency of CYP2C9 polymorphisms affecting warfarin metabolism in a large anticoagulant clinic cohort		601130		CDC	2006	Allele frequencies and genotypes for CYP2C9*2 and *3 variants in patients on warfarin are not statistically different from controls whether or not they are stratified for ethnicity. Less common genotypes (*4, *5, *6) do not contribute significantly to warfarin sensitivity among patients attending a routine anticoagulation clinic. CYP2C9 genotype predicts warfarin dosage even in an uncontrolled, retrospective survey of unselected patients on warfarin therapy.											
146358	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24	CYP2C9	96688429	96739137		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		601130		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146359		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Herman, D.  et al. 2006	16676068				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDP info	1559	Hs.282624			Thromb Haemost    2006    95(5)    782-7	The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement		601130		CDC	2006												
146360	Y	bleeding complications	PHARMACOGENOMIC	PHARM	Hemorrhage	10	10q24	CYP2C9	96688429	96739137		Mark, L.  et al. 2006	16699986				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Kardiol Pol    2006    64(4)    397-402	Cytochrome P450 2C9 polymorphism and acenocoumarol therapy		601130		CDC	2006	Patients bearing CYP2C9 alleles with reduced enzymatic activity have a lower acenocoumarol requirement.		acenocoumarol									
146361	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Wiwanitkit, V.  et al. 2006	16708125				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Asian		CDC GDP info	1559	Hs.282624			Clin Appl Thromb Hemost    2006    12(2)    219-22	Pharmacogenomic Effect of Cytochrome P450 2C9 Polymorphisms in Different Populations		601130		CDC	2006	the CYP2C9 variants strongly affect the warfarin dose requirement.											
146362			NORMALVARIATION	NV		10	10q24	CYP2C9	96688429	96739137		Bosch, T. M.  et al. 2006	16771603				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDP info	1559	Hs.282624			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		601130		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146363	Y	rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Zhang, W.  et al. 2006	16784736				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Chim Acta    2006	Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males		601130		CDC	2006	The BCRP 421C>A polymorphism may play an important role in the pharmacokinetics of rosuvastatin in healthy Chinese males after the exclusion of impact of SLCO1B1 and CYP2C9 genetic polymorphism.											
146364	Y	colorectal cancer	PHARMACOGENOMIC	PHARM	Neoplasms, Glandular and Epithelial|Colonic Neoplasms|Rectal Neoplasms	10	10q24	CYP2C9	96688429	96739137		Samowitz, W. S.  et al. 2006	16797247				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Gastroenterol Hepatol    2006	Interactions Between CYP2C9 and UGT1A6 Polymorphisms and Nonsteroidal Anti-Inflammatory Drugs in Colorectal Cancer Prevention		601130		CDC	2006	In this study, the major effect seen was an enhancement by slower-metabolizing CYP2C9 variants of the chemopreventive activity of ibuprofen against colorectal cancer.		aspirin ibuprofen nonsteroidal anti-inflammatory (NSAID)									
146365	Y	over anticoagulation	HEMATOLOGICAL	HEM		10	10q24	CYP2C9	96688429	96739137		Schalekamp, T.  et al. 2006	16815313				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006    80(1)    13-22	VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status		601130		CDC	2006	Being a carrier of a combination of polymorphisms of VKORC1 and CYP2C9, rather than of one of these polymorphisms, is associated with severe overanticoagulation.		acenocoumarol									
146367		obesity	PHARMACOGENOMIC	PHARM	Obesity	10	10q24	CYP2C9	96688429	96739137		Schwabedissen, C. M.  et al. 2006	16847664				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Eur J Clin Pharmacol    2006	Obesity is associated with a slower response to initial phenprocoumon therapy whereas CYP2C9 genotypes are not		601130		CDC	2006	Patient obesity appears to directly correspond to the amount of phenprocoumon required during initiation of therapy.		phenprocoumin									
146368	Y	phenytoin	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Rosemary, J.  et al. 2006	16873909				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Indian J Med Res    2006    123(5)    665-70	Influence of the CYP2C9 & CYP2C19 polymorphisms on phenytoin hydroxylation in healthy individuals from south India		601130		CDC	2006	CYP2C9*2 and *3 mutant alleles caused decreased hydroxylation of phenytoin in vivo, whereas the mutant alleles of CYP2C19 played only a minor role in the metabolism of phenytoin in subjects of our study. The results of present preliminary study needs to be confirmed with a larger sample.											
146369		hematology indices	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Becquemont, L.  et al. 2006	16878445				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDP info	1559	Hs.282624			Bull Acad Natl Med    2006    190(1)    37-49; discussion 50-3	Pharmacogenetics and interindividual variability in drug response		601130		CDC	2006			coumarin									
146370	N	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Obayashi, K.  et al. 2006	16890578				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		Japan	CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006    80(2)    169-78	VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients		601130		CDC	2006	The ethnic difference in warfarin maintenance dose was mainly dependent on the linked VKORC1 variants.											
146372		torsemide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Vormfelde, S. V.  et al. 2006	16969365				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pharmacogenomics J    2006	Genetic variation at the CYP2C locus and its association with torsemide biotransformation		601130		CDC	2006	torsemide\s biotransformation strongly depended on the CYP2C9(*)3 variant but no other. Higher clearance CYP2C9 haplotypes appear to be evolutionarily selected.											
146373		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	10	10q24	CYP2C9	96688429	96739137		De Roos, A. J.  et al. 2006	16985026				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	non-Hispanic		CDC GDP info	1559	Hs.282624			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		601130		CDC	2006												
146374	N	bladder cancer	PHARMACOGENOMIC	PHARM	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Fortuny, J.  et al. 2006	16985032				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1696-702	Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain		601130		CDC	2006	Regular use of nonaspirin NSAIDs was associated with a reduced risk of bladder cancer, which was not modified by polymorphisms in the NSAID-metabolizing gene CYP2C9. We found no evidence of an overall effect for paracetamol or aspirin use.		acetaminophen aspirin maetamizol nonsteroidal anti-inflammatory (NSAID) phenacetin									
146376	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Wadelius, M.  et al. 2006	17048007				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		601130		CDC	2006												
146377		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Cerebrovascular Accident	10	10q24	CYP2C9	96688429	96739137		Kimura, R.  et al. 2006	17049586				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Thromb Res    2006	Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients		601130		CDC	2006												
146378	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Hubner, R. A.  et al. 2006	17085674				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Cancer Res    2006    12(21)    6585-9	Genetic Variants of UGT1A6 Influence Risk of Colorectal Adenoma Recurrence		601130		CDC	2006	These findings confirm that UGT1A6 variants influence colorectal carcinogenesis independent of aspirin intake and suggest that they may have clinical value in secondary prevention programs for patients diagnosed with colorectal adenoma.		aspirin									
146379		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Loebstein, R.  et al. 2006	17110455				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Ashkenazi;Jewish		CDC GDP info	1559	Hs.282624			Blood    2006	A coding VKORC1 Asp36Tyr polymorphism predisposes to warfarin resistance		601130		CDC	2006												
146380	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Carlquist, J. F.  et al. 2006	17111199				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			J Thromb Thrombolysis    2006	Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose		601130		CDC	2006	In this large prospective study of warfarin genetic dose-determinants, carriage of a single or double CYP2C9 variant, reduced warfarin dose 18-72%, and of a VKORC1 variant by 65%. Genotype-based modeling explained almost one-half of dose-variance. A quantitative dosing algorithm incorporating genotypes for 2C9 and VKORC1 could substantially improve initial w											
146381	N	duodenal ulcer, NSAID-ralted gastric ulcer, NSAID-ralted	PHARMACOGENOMIC	PHARM	Duodenal Ulcer|Stomach Ulcer	10	10q24	CYP2C9	96688429	96739137		Vonkeman, H. E.  et al. 2006	17157122				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Ther    2006    28(10)    1670-6	Allele variants of the cytochrome P450 2C9 genotype in white subjects from the netherlands with serious gastroduodenal ulcers attributable to the use of NSAIDs		601130		CDC	2006	The CYP2C9 genotype was not a significant or clinically relevant risk factor in the development of serious NSAID-related ulcers in this group of subjects.											
146383	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	10	10q24	CYP2C9	96688429	96739137		Crettol, S.  et al. 2006	17178267				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		601130		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146384	Y	phenprocoumon requirements	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Schalekamp, T.  et al. 2006	17192772				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006	VKORC1 and CYP2C9 Genotypes and Phenprocoumon Anticoagulation Status		601130		CDC	2006	the VKORC1 genotype modifies the effect of the CYP2C9 genotype on phenprocoumon dose requirements.			CYP2C9		CYP2C9						
146385	P		NORMALVARIATION	NV		10	10q24	CYP2C9	96688429	96739137		Zand, N.  et al. 2007	17201743				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian;Iranian		CDC GDP info	1559	Hs.282624			Clin Exp Pharmacol Physiol    2007    34(1-2)    102-5	Genetic polymorphisms of cytochrome p450 enzymes 2c9 and 2c19 in a healthy Iranian population		601130		CDC	2007												
146386		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Neoplasms|Thrombosis|Thrombophilia	10	10q24	CYP2C9	96688429	96739137		Ruud, E.  et al. 2007	17226852				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pediatr Blood Cancer    2007	Oral anticoagulation with warfarin is significantly influenced by steroids and CYP2C9 polymorphisms in children with cancer		601130		CDC	2007			steroids									
146387	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	10	10q24	CYP2C9	96688429	96739137		Tursen, U.  et al. 2007	17269966				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Int J Dermatol    2007    46(2)    153-6	Cytochrome P450 polymorphisms in patients with Behcet's disease		601130		CDC	2007	We observed that patients with BD presented with a higher prevalence of the heterozygous CYP2C19*2 genotype. Hereditary deficiencies of this enzyme activity may lead to an imbalance between pro- and antioxidant systems, resulting in the formation of excessive reactive oxygen species.											
146388	N	hepatoxicity, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic	10	10q24	CYP2C9	96688429	96739137		Pachkoria, K.  et al. 2007	17279092				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Spanish;Caucasian		CDC GDP info	1559	Hs.282624			Br J Pharmacol    2007	Genetic polymorphisms of CYP2C9 and CYP2C19 are not related to drug-induced idiosyncratic liver injury (DILI)		601130		CDC	2007	AND IMPLICATIONS: We find no evidence to support CYP2C9 and CYP2C19 genetic polymorphisms as predictable potential risk factors for DILI.											
146390		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Hamberg, A. K.  et al. 2007	17301738				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2007	A PK-PD Model for Predicting the Impact of Age, CYP2C9, and VKORC1 Genotype on Individualization of Warfarin Therapy		601130		CDC	2007												
146391		phenobarbital clearance	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Goto, S.  et al. 2007	17304159				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Ther Drug Monit    2007    29(1)    118-121	Population Estimation of the Effects of Cytochrome P450 2C9 and 2C19 Polymorphisms on Phenobarbital Clearance in Japanese		601130		CDC	2007												
146392		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Kealey, C.  et al. 2007	17324110				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian		CDC GDP info	1559	Hs.282624			Pharmacogenomics    2007    8(3)    217-225	Warfarin and cytochrome P450 2C9 genotype		601130		CDC	2007												
146393		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Kimmel, S. E.  et al. 2007	17325732				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	African American;Caucasian		CDC GDP info	1559	Hs.282624			Pharmacogenomics J    2007	Apolipoprotein E genotype and warfarin dosing among Caucasians and African Americans		601130		CDC	2007												
146394	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137		Liao, L. H.  et al. 2007	17368604				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2		China	CDC GDP info	1559	Hs.282624			Clin Chim Acta    2007	The association of CYP2C9 gene polymorphisms with colorectal carcinoma in Han Chinese		601130		CDC	2007	There is an association of CYP2C9 coding region polymorphisms with the risk of developing CRC in Han Chinese after genotyping cases and controls recruited from different locations in China.											
146395	N	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Cho, H. J.  et al. 2007	17391071				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Caucasian;Korean;Asian		CDC GDP info	1559	Hs.282624			Pharmacogenomics    2007    8(4)    329-337	Factors affecting the interindividual variability of warfarin dose requirement in adult Korean patients		601130		CDC	2007	In the present study, we found that the VKORC1 polymorphism had a dominant genetic influence on interindividual variability for warfarin dose in Korean patients.											
146396	Y	coumarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Beinema, M. J.  et al. 2007	17397249				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Mol Diagn Ther    2007    11(2)    123-8	The Influence of NSAIDs on Coumarin Sensitivity in Patients with CYP2C9 Polymorphism After Total Hip Replacement Surgery		601130		CDC	2007	In the group of patients with a CYP2C9 variant (*2 or *3 alleles), only concomitant use of a NSAID resulted in INRs >4.9. The cost effectiveness of CYP2C9 screening before elective surgery has yet to be determined.											
146398		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Atrial Fibrillation|Thrombophilia|Hemorrhage	10	10q24	CYP2C9	96688429	96739137			17419358				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Klin Med (Mosk)    2007    85(1)    57-60	The influence of CYP2C9 genetic polymorphism on the pharmacokinetics and pharmacodynamics of warfarin in patients with constant atrial fibrillation		601130		CDC	2007												
146399	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	10	10q24	CYP2C9	96688429	96739137		Klotsman, M.  et al. 2007	17460547				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		601130		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
146400	Y	indisulam pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	10	10q24	CYP2C9	96688429	96739137		Zandvliet, A. S.  et al. 2007	17504998	CYP2C9*3			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Cancer Res    2007    13(10)    2970-6	CYP2C9 and CYP2C19 Polymorphic Forms Are Related to Increased Indisulam Exposure and Higher Risk of Severe Hematologic Toxicity		601130		CDC	2007	CYP2C9*3, CYP2C19*2, and CYP2C19*3 polymorphisms resulted in a reduced elimination rate of indisulam. Screening for these CYP2C polymorphisms and subsequent pharmacogenetically guided dose adaptation may assist in the selection of an optimized initial indisulam dosage.											
146401		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Zhu, Y.  et al. 2007	17510308	VKORC1 -1639A			Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Chem    2007	Estimation of Warfarin Maintenance Dose Based on VKORC1 (-1639 G>A) and CYP2C9 Genotypes		601130		CDC	2007	The VKORC1 -1639A allele accounts for low dosage requirements of most patients without a CYP2C9 variant. Higher plasma S-warfarin concentrations corresponding to increased warfarin maintenance dosages support a hypothesis for increased expression of the VKORC1 -1639G allele. VKORC1 and CYP2C9 genotypes, age, sex, and body weight account for the majority of variance in warfarin dose among our study population.											
146402	Y	myocardial infarct	PHARMACOGENOMIC	PHARM	Myocardial Infarction	10	10q24	CYP2C9	96688429	96739137		Visser, L. E.  et al. 2007	17558303				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pharmacogenet Genomics    2007    17(7)    473-9	The risk of myocardial infarction in patients with reduced activity of cytochrome P450 2C9		601130		CDC	2007	Drugs that are metabolized by CYP2C9 increase the risk of myocardial infarction in women.		CYP2C9 inhibitors CYP2C9 substrates									
146403		phenytoin	PHARMACOGENOMIC	PHARM	Epilepsy	10	10q24	CYP2C9	96688429	96739137		Lee, S. Y.  et al. 2007	17562299				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Korean		CDC GDP info	1559	Hs.282624			J Biochem Mol Biol    2007    40(3)    448-52	Contributions of CYP2C9/CYP2C19 genotypes and drug interaction to the phenytoin treatment in the Korean epileptic patients in the clinical setting		601130		CDC	2007												
146404	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Muszkat, M.  et al. 2007	17577464				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Ther    2007    29(3)    427-37	Warfarin metabolism and anticoagulant effect		601130		CDC	2007	In this study population of patients with severe comorbid conditions and those treated with medications that potentially interact with warfarin, CYP2C9 *1/*3 genotype, older age, CHF, and the use of antibiotics were associated with lower warfarin dosage requirements. The CYP2C9*1/*3 genotype, compared with CYP2C9 *1/*1, was associated with 33% lower mean warfarin dosage requirements and higher INR values, which were higher than the upper therapeutic range of INR (ie, 3). Genetic CYP2C9 polymorphism contributed to the variability in warfarin dosage requirements in the presence of drug-disease and drug-drug interactions.											
146405		anticoagulant response of acenocoumarol	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Gonzalez-Conejero, R.  et al. 2007	17596133				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			J Thromb Haemost    2007	The genetic interaction of VKORC1 c1173t/calumenin a29809g modulates the anticoagulant response of acenocoumarol		601130		CDC	2007	Our results suggest that CALU a29809g might be a new genetic factor involved in the pharmacogenetic of anticoagulant therapy, and confirm that specific genetic profiles defined by different polymorphisms will determine the initial response and required dose to achieve an stable and safe INR.											
146406		diabetes, type 2	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Becker, M. L.  et al. 2007	17597710				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2007	Cytochrome P450 2C9 (*)2 and (*)3 Polymorphisms and the Dose and Effect of Sulfonylurea in Type II Diabetes Mellitus		601130		CDC	2007			sulfonylurea tolbutamide									
146407		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827			16459354				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Moscow		CDC GDP info	1564	Hs.333497			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		124030		CDC	2006												
146408		nausea	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Nausea|Mental Disorders	22	22q13.1	CYP2D6	40852444	40856827			16534507				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Pharmacogenomics J    2006	The effect of 5-hydroxytryptamine 3A and 3B receptor genes on nausea induced by paroxetine		124030		CDC	2006			paroxetine									
146409		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Honda, M.  et al. 2006	16595916				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		124030		CDC	2006												
146411		haloperidol pharmacokinetics	PHARMACOGENOMIC	PHARM	Akathisia, Drug-Induced|Long QT Syndrome	22	22q13.1	CYP2D6	40852444	40856827		Park, J. Y.  et al. 2006	16633141				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			J Clin Psychopharmacol    2006    26(2)    135-142	Combined Effects of Itraconazole and CYP2D6*10 Genetic Polymorphism on the Pharmacokinetics and Pharmacodynamics of Haloperidol in Healthy Subjects		124030		CDC	2006			itraconazole									
146412	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		124030		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146413		prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Sobti, R. C.  et al. 2006	16716118				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Indian		CDC GDP info	1564	Hs.333497			DNA Cell Biol    2006    25(5)    287-94	CYP17, SRD5A2, CYP1B1, and CYP2D6 Gene Polymorphisms with Prostate Cancer Risk in North Indian Population		124030		CDC	2006												
146415		polydipsia	OTHER	OTH	Genetic Predisposition to Disease|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Matsumoto, C.  et al. 2006	16775389				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Neuromolecular Med    2006    8(3)    381-8	Association Study Between Functional Polymorphisms in the Cytochrome P450 1A2 and 2D6 Genes and Polydipsia in Schizophrenia		124030		CDC	2006												
146416		depression schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Kropp, S.  et al. 2006	16812949				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Clin Lab    2006    52(5-6)    237-40	Cytochrome P-450 2D6 and 2C19 polymorphisms and length of hospitalization in psychiatry		124030		CDC	2006			psychotropic drugs									
146417	Y	carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Takekuma, Y.  et al. 2006	16849011				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			J Pharm Pharm Sci    2006    9(1)    101-12	Contribution of polymorphisms in UDP-glucuronosyltransferase and CYP2D6 to the individual variation in disposition of carvedilol		124030		CDC	2006	Polymorphisms of UGT1A1, UGT2B7 and CYP2D6 strongly affect the pharmacokinetics and disposition of carvedilol in Japanese.											
146418			NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Liou, Y. H.  et al. 2006	16924387				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			J Hum Genet    2006	The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population		124030		CDC	2006												
146419			NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Lu, Y.  et al. 2006	17113562				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Chinese;Caucasian;Indian;Singapore		CDC GDP info	1564	Hs.333497			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		124030		CDC	2006												
146420	Y	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	22	22q13.1	CYP2D6	40852444	40856827		Crettol, S.  et al. 2006	17178267				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		124030		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146422	P		NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Sheng, H. H.  et al. 2007	17241532				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Acta Pharmacol Sin    2007    28(2)    279-86	Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population		124030		CDC	2007	Allelic distributions of the CYP2D6 gene copy number variation differ among Chinese from different regions, indicating ethnic variety in Chinese.											
146423		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Wegman, P.  et al. 2007	17244352				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Breast Cancer Res    2007    9(1)    R7	Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal breast cancer patients		124030		CDC	2007	The metabolism of tamoxifen is complex and the mechanisms responsible for the resistance are unlikely to be explained by a single polymorphism; instead it is a combination of several mechanisms.		tamoxifen									
146424	N	Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Bialecka, M.  et al. 2007	17270484				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Parkinsonism Relat Disord    2007	Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson(')s disease		124030		CDC	2007												
146425	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Duric, G.  et al. 2007	17304721				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Vojnosanit Pregl    2007    64(1)    25-30	Polymorphisms in the genes of citohrom oxidase P450 2D6 (CYP2D6), paraoxonase 1 (PON1) and apolipoproteine E (APOE) as risk factors for Parkinson's disease		124030		CDC	2007	The results of our study suggest that the genotypes A/A and M/M genes of CYP2D6 and PON1, and allele epsilon4 gene are an important risk for the development of PD, causing its early onset. The cumulative effects of the risk genes cause an early onset of PD.											
146426		carvedilol phamacokinetics	PHARMACOGENOMIC	PHARM	Heart Failure|Chronic Disease	22	22q13.1	CYP2D6	40852444	40856827		Takekuma, Y.  et al. 2007	17329852				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Biol Pharm Bull    2007    30(3)    537-42	Evaluation of effects of polymorphism for metabolic enzymes on pharmacokinetics of carvedilol by population pharmacokinetic analysis		124030		CDC	2007												
146428		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	22	22q13.1	CYP2D6	40852444	40856827		Pan, J. H.  et al. 2007	17450472				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Acta Oncol    2007    46(3)    361-6	CYP450 polymorphisms predict clinic outcomes to vinorelbine-based chemotherapy in patients with non-small-cell lung cancer		124030		CDC	2007			vinorelbine									
146429		benzene toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Gu, S. Y.  et al. 2007	17479406				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4		China	CDC GDP info	1564	Hs.333497			J Toxicol Environ Health A    2007    70(11)    916-24	Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population		124030		CDC	2007	our data suggested that individuals with CYP1A1 c.											
146430	N	cholesterol glucose insulin triglycerides	PHARMACOGENOMIC	PHARM	Insulin Resistance	22	22q13.1	CYP2D6	40852444	40856827		Melkersson, K. I.  et al. 2007	17503978				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			J Clin Psychiatry    2007    68(5)    697-704	Impact of CYP1A2 and CYP2D6 polymorphisms on drug metabolism and on insulin and lipid elevations and insulin resistance in clozapine-treated patients		124030		CDC	2007	CYP1A2 variants *1C and *1D seem to be associated with higher serum clozapine concentrations and an increased risk of developing insulin and lipid elevations and insulin resistance on a given dose of clozapine.		clozapine									
146432		risperidone	PHARMACOGENOMIC	PHARM		22	22q13.1	CYP2D6	40852444	40856827		Leon, J.  et al. 2007	17541883				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Pharmacopsychiatry    2007    40(3)    93-102	A Study of Genetic (CYP2D6 and ABCB1) and Environmental (Drug Inhibitors and Inducers) Variables That May Influence Plasma Risperidone Levels		124030		CDC	2007												
146435	P		NORMALVARIATION	NV		10	10q24.3-qter	CYP2E1	135190856	135224714		Hamajima, N.  et al. 2002	12718576				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1571	Hs.12907			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		124040		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
146436	P		CANCER	CAN	Neoplasms	10	10q24.3-qter	CYP2E1	135190856	135224714		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		124040		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146437		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714			16459354				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Moscow		CDC GDP info	1571	Hs.12907			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		124040		CDC	2006												
146438	P		NORMALVARIATION	NV		10	10q24.3-qter	CYP2E1	135190856	135224714		Rossini, A.  et al. 2006	16470306				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Brazilian;Caucasian	Brazil	CDC GDP info	1571	Hs.12907			Braz J Med Biol Res    2006    39(2)    195-201	CYP2A6 and CYP2E1 polymorphisms in a Brazilian population living in Rio de Janeiro		124040		CDC	2006												
146439	N	colorectal cancer	CANCER	CAN		10	10q24.3-qter	CYP2E1	135190856	135224714		Chen, K.  et al. 2005	16471212				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		124040		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
146441		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Yang, J.  et al. 2006	16720291				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3		China	CDC GDP info	1571	Hs.12907			Front Biosci    2006    11    2052-60	Polymorphisms of metabolic enzyme genes, living habits and prostate cancer susceptibility		124040		CDC	2006			alcohol drinking behavior sexual history smoking (tobacco) tea toxicant									
146442		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	10	10q24.3-qter	CYP2E1	135190856	135224714		De Roos, A. J.  et al. 2006	16985026				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	non-Hispanic		CDC GDP info	1571	Hs.12907			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		124040		CDC	2006												
146443		bladder cancer	PHARMACOGENOMIC	PHARM	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Fortuny, J.  et al. 2006	16985032				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1696-702	Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain		124040		CDC	2006	Regular use of nonaspirin NSAIDs was associated with a reduced risk of bladder cancer, which was not modified by polymorphisms in the NSAID-metabolizing gene CYP2C9. We found no evidence of an overall effect for paracetamol or aspirin use.		acetaminophen aspirin maetamizol nonsteroidal anti-inflammatory (NSAID) phenacetin									
146445		cytogenetic studies	OTHER	OTH		10	10q24.3-qter	CYP2E1	135190856	135224714		Laczmanska, I.  et al. 2006	17078101				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		124040		CDC	2006												
146446	N	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Barragan, E.  et al. 2006	17118447				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		124040		CDC	2006			chemotherapy									
146447		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Wan, J. X.  et al. 2006	17119198				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Ann N Y Acad Sci    2006    1076    129-36	Genetic polymorphism of toxicant-metabolizing enzymes and prognosis of chinese workers with chronic benzene poisoning		124040		CDC	2006												
146449		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Gonzalez, A.  et al. 2004	17361553				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Rev Biol Trop    2004    52(3)    591-600	Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility		124040		CDC	2004												
146451		alcoholism cirrhosis, alcoholic	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Cichoz-Lach, H.  et al. 2006	17427487				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Polish	Poland	CDC GDP info	1571	Hs.12907			Wiad Lek    2006    59(11-12)    757-61	The influence of genetic polymorphism of CYP2E1 on the development of alcohol liver cirrhosis		124040		CDC	2006	Our studies suggest that the frequency of allele c2 in Polish population is low, but the presence of c2 allele may be a risk factor for the alcohol liver cirrhosis.											
146452		atherosclerosis, coronary blood pressure, arterial cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714			17486761				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3	Russian		CDC GDP info	1571	Hs.12907			Genetika    2007    43(3)    409-16	Association analysis of alcohol metabolizing enzymes ADH1B, ADH7, CYP2E1 gene polymorphism with risk for coronary atherosclerosis		124040		CDC	2007												
146453	N	1-hydroxypyrene, urinary	METABOLIC	MET		10	10q24.3-qter	CYP2E1	135190856	135224714		Chen, B.  et al. 2007	17498780				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		124040		CDC	2007												
146454		birth weight small for gestational age	REPRODUCTION	REP	Pregnancy Complications	10	10q24.3-qter	CYP2E1	135190856	135224714		Infante-Rivard, C.  et al. 2007	17564586				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Paediatr Perinat Epidemiol    2007    21(4)    300-9	Caffeine intake and small-for-gestational-age birth		124040		CDC	2007			caffeine									
146456		head and neck cancer	CANCER	CAN		10	10q24.3-qter	CYP2E1	135190856	135224714		Boccia, S.  et al. 2007	17611777				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		124040		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
146458		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	CYP2F1	46312192	46326121		Tournel, G.  et al. 2007	17327131				Cytochrome P450, family 2, subfamily F, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000774	Caucasian;French		CDC GDP info	1572	Hs.558318			Mutat Res    2007	Molecular analysis of the CYP2F1 gene		124070		CDC	2007												
146459	N	ebastine metabolism	PHARMACOGENOMIC	PHARM	Body Weight	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Gervasini, G.  et al. 2006	16842392				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Caucasian		CDC GDP info	1573	Hs.152096			Br J Clin Pharmacol    2006    62(2)    177-86	The effect of CYP2J2, CYP3A4, CYP3A5 and the MDR1 polymorphisms and gender on the urinary excretion of the metabolites of the H-receptor antihistamine ebastine		601258		CDC	2006	Gender and the presence of the MDR1(C3435T) polymorphism both influence the excretion of ebastine metabolites in urine.											
146460	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Liu, P. Y.  et al. 2006	17126841	CYP2J2*7			Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2			CDC GDP info	1573	Hs.152096			Atherosclerosis    2006	Synergistic effect of cytochrome P450 epoxygenase CYP2J2*7 polymorphism with smoking on the onset of premature myocardial infarction		601258		CDC	2006	The CYP2J2*7 polymorphism and premature MI were synergistically and significantly associated in Taiwanese patients.		smoking (tobacco)									
146461	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Wu, S. N.  et al. 2007	17286575				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2			CDC GDP info	1573	Hs.152096			Ann Hum Genet    2007	Evidence for Association of Polymorphisms in CYP2J2 and Susceptibility to Essential Hypertension		601258		CDC	2007	Our data provide strong evidence that the CYP2J2 gene is a susceptibility factor for essential hypertension, especially in females, and influences individual systolic blood pressure in the Chinese Han population.											
146462		atherosclerosis, coronary cardiac death myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Hoffmann, M. M.  et al. 2007	17327508			promoter	Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2			CDC GDP info	1573	Hs.152096			Clin Chem    2007    53(3)    539-40	The -50G>T Polymorphism in the Promoter of the CYP2J2 Gene in Coronary Heart Disease		601258		CDC	2007												
146463	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis|Genetic Predisposition to Disease	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Lee, C. R.  et al. 2007	17429317				Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Caucasian	United States	CDC GDP info	1573	Hs.152096			Pharmacogenet Genomics    2007    17(5)    349-358	CYP2J2 and CYP2C8 polymorphisms and coronary heart disease risk		601258		CDC	2007	the I264M, I269F, and K399R polymorphisms in CYP2C8 were not significantly associated with risk of incident coronary heart disease.		smoking (tobacco)									
146464	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1p31.3-p31.2	CYP2J2	60131567	60165011		Polonikov, A. V.  et al. 2007	17475630			promoter	Cytochrome P450, family 2, subfamily J, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000775.2	Russian		CDC GDP info	1573	Hs.152096			Chest    2007	PROMOTER POLYMORPHISM G-50T OF A HUMAN CYP2J2 EPOXYGENASE GENE IS ASSOCIATED WITH COMMON SUSCEPTIBILITY TO ASTHMA		601258		CDC	2007	Our data demonstrate for the first time that the CYP2J2 gene might be considered as a novel candidate gene for common susceptibility to asthma and highlight the importance of the P-450 epoxygenase pathway of metabolism of arachidonic acid in the pathogenesis of the disease.											
146465		asthma	IMMUNE	IMM	Asthma	11	11p15.2	CYP2R1	14856131	14870327		Wjst, M.  et al. 2006	16600026				Cytochrome P450, family 2, subfamily R, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092584	German		CDC GDP info	120227	Hs.371427			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		608713		CDC	2006												
146467	P		NORMALVARIATION	NV		19	19q13.1	CYP2S1	46390954	46405284		Hanzawa, Y.  et al. 2007	17495422				Cytochrome P450, family 2, subfamily S, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030622.6			CDC GDP info	29785	Hs.98370			Drug Metab Pharmacokinet    2007    22(2)    136-40	Three Novel Single Nucleotide Polymorphisms (SNPs) of CYP2S1 Gene in Japanese Individuals				CDC	2007												
146468	Y	kidney dysfunction	RENAL	REN		7	7q21.3-q22.1	CYP3A	98890599	99022355		Macphee, I. A.  et al. 2002	12490779				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				Transplantation    2002    74    1486-9	Tacrolimus pharmacogenetics		124010		CDC	2002	The CYP3AP1 genotype is a major factor in determining the dose requirement for tacrolimus, and genotyping may be of value in planning patient-specific drug dosing.		tacrolimus									
146469		CYP3A activity	NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A	98890599	99022355		Rais, N.  et al. 2006	16628436				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				Eur J Clin Pharmacol    2006	CYP3A phenotypes and genotypes in North Indians		124010		CDC	2006												
146470	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A	98890599	99022355		Cheung, C. Y.  et al. 2006	16753004				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				Pharmacogenomics    2006    7(4)    563-574	Influence of different allelic variants of the CYP3A and ABCB1 genes on the tacrolimus pharmacokinetic profile of Chinese renal transplant recipients		124010		CDC	2006	the CYP3A5*3 polymorphism may be an important factor in determining the dose requirement for tacrolimus and genotyping can help determine the initial daily dose required by individual patients for adequate immunosuppression.											
146471		cardiovascular death myocardial infarct stroke	PHARMACOGENOMIC	PHARM	Embolism, Cholesterol|Thrombosis	7	7q21.3-q22.1	CYP3A	98890599	99022355		Suh, J. W.  et al. 2006	16754899				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				CMAJ    2006    174(12)    1715-22	Increased risk of atherothrombotic events associated with cytochrome P450 3A5 polymorphism in patients taking clopidogrel		124010		CDC	2006			clopidogrel itraconazole									
146473	N	docetaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms|Neoplasm Metastasis	7	7q21.3-q22.1	CYP3A	98890599	99022355		Bosch, T. M.  et al. 2006	17020985				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				Clin Cancer Res    2006    12(19)    5786-93	Pharmacogenetic Screening of CYP3A and ABCB1 in Relation to Population Pharmacokinetics of Docetaxel		124010		CDC	2006	The polymorphism C1236T in the ABCB1 gene was significantly related to docetaxel clearance.											
146474	N	saquinavir pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Mouly, S. J.  et al. 2005	16338276				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2005    78(6)    605-18	Variation in oral clearance of saquinavir is predicted by CYP3A5*1 genotype but not by enterocyte content of cytochrome P450 3A5		124010		CDC	2005	The CYP3A5*1 genotype is associated with$$$ increased saquinavir CL/F. This does not appear to reflect intestinal CYP3A5 expression and presumably reflects the contribution of hepatic CYP3A5. The interaction with Seville orange juice in subjects not expressing CYP3A5 supports a role for intestinal CYP3A4. However, the modest nature of the interaction, combined with the inability to detect a correlation between CL/F and CYP3A4 enterocyte content, supports our recent in vitro work suggesting a smaller contribution of intestinal CYP3A4 than has been assumed.											
146475		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744			16414488				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Urol Oncol    2006    24(1)    21-7	Impact of a genetic variant in CYP3A4 on risk and clinical presentation of prostate cancer among white and African-American men()		124010		CDC	2006												
146476		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744			16538176				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		124010		CDC	2006												
146477	P		NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Westlind-Johnsson, A.  et al. 2006	16580902				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Brazilian;German		CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    79(4)    339-49	Identification and characterization of CYP3A4*20, a novel rare CYP3A4 allele without functional activity		124010		CDC	2006	CYP3A4*20 represents the first CYP3A4 allele to be identified that has been shown to be devoid of functional activity. It causes an intermediate CYP3A4 metabolizer phenotype in a heterozygous carrier. Subjects of this genotype might be susceptible to side effects during drug therapy with substrates or inhibitors of CYP3A4.											
146478		haloperidol pharmacokinetics	PHARMACOGENOMIC	PHARM	Akathisia, Drug-Induced|Long QT Syndrome	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Park, J. Y.  et al. 2006	16633141				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			J Clin Psychopharmacol    2006    26(2)    135-142	Combined Effects of Itraconazole and CYP2D6*10 Genetic Polymorphism on the Pharmacokinetics and Pharmacodynamics of Haloperidol in Healthy Subjects		124010		CDC	2006			itraconazole									
146479	Y	glycoprotein IIb/IIIa receptor activation platelet aggregation	PHARMACOGENOMIC	PHARM	Coronary Artery Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Angiolillo, D. J.  et al. 2006	16645157	CYP3A4   IVS10+12G>A			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Arterioscler Thromb Vasc Biol    2006	Contribution of Gene Sequence Variations of the Hepatic Cytochrome P450 3A4 Enzyme to Variability in Individual Responsiveness to Clopidogrel		124010		CDC	2006	The IVS10+12G>A polymorphism of the CYP3A4 gene modulates platelet activation in patients treated with clopidogrel and may therefore contribute to clopidogrel response variability.		clopidogrel									
146480	P		NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Rais, N.  et al. 2006	16758258				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Indian		CDC GDP info	1574	Hs.654391			Eur J Clin Pharmacol    2006    62(6)    417-22	CYP3A phenotypes and genotypes in North Indians		124010		CDC	2006	This is the first investigation establishing CYP3A phenotypes and demonstrating the absence of common CYP3A4 genotypes in North Indians.											
146481	Y	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Tran, A.  et al. 2006	16765145				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		124010		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
146482			NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Bosch, T. M.  et al. 2006	16771603				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Caucasian		CDC GDP info	1574	Hs.654391			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		124010		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146483	N	ebastine metabolism	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Gervasini, G.  et al. 2006	16842392				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Caucasian		CDC GDP info	1574	Hs.654391			Br J Clin Pharmacol    2006    62(2)    177-86	The effect of CYP2J2, CYP3A4, CYP3A5 and the MDR1 polymorphisms and gender on the urinary excretion of the metabolites of the H-receptor antihistamine ebastine		124010		CDC	2006	Gender and the presence of the MDR1(C3435T) polymorphism both influence the excretion of ebastine metabolites in urine.											
146484		voriconazole pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Mikus, G.  et al. 2006	16890574				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    80(2)    126-35	Potent cytochrome P450 2C19 genotype-related interaction between voriconazole and the cytochrome P450 3A4 inhibitor ritonavir		124010		CDC	2006	Coadministration of a potent CYP3A4 inhibitor leads to a higher and prolonged exposure with voriconazole that might increase the risk of the development of adverse drug reactions on a short-term basis, particularly in CYP2C19 PM patients.											
146485	Y	paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Nakajima, Y.  et al. 2006	16890579	CYP3A4*16B			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    80(2)    179-191	Impact of the haplotype CYP3A4*16B harboring the Thr185Ser substitution on paclitaxel metabolism in Japanese patients with cancer		124010		CDC	2006	Our results suggest that CYP3A416B is associated with both reduced 3\-p-hydroxylation of paclitaxel and probably increased levels of 6alpha-hydroxypaclitaxel.		paclitaxel									
146487	N	cholestasis, intrahepatic	METABOLIC	MET	Cholestasis, Intrahepatic|Pregnancy Complications	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Zhang, L.  et al. 2006	16909599				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(4)    551-3, 582	Association between polymorphisms of CYP17 and CYP3A4 genes and intrahepatic cholestasis of pregnancy in Chengdu		124010		CDC	2006												
146488	P		NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Liou, Y. H.  et al. 2006	16924387				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			J Hum Genet    2006	The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population		124010		CDC	2006												
146489	P		NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Du, J.  et al. 2006	16981844				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenomics    2006    7(6)    831-841	Systematic screening for polymorphisms in the CYP3A4 gene in the Chinese population.		124010		CDC	2006	Several SNPs were detected in the CYP3A4 gene.											
146490		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Rebbeck, T. R.  et al. 2006	16985250				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492		Philadelphia	CDC GDP info	1574	Hs.654391			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		124010		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
146491	N	liver transplant	PHARMACOGENOMIC	PHARM		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Fukudo, M.  et al. 2006	17015051				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    80(4)    331-45	Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients		124010		CDC	2006	The enterocyte MDR1 mRNA level and the CYP3A5*1 allele in the graft liver contribute differently to the interindividual variability in the oral clearance of tacrolimus after living-donor liver transplantation.		tacrolimus									
146493		HIV	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Motsinger, A. A.  et al. 2006	17047492				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenet Genomics    2006    16(11)    837-45	Multilocus genetic interactions and response to efavirenz-containing regimens		124010		CDC	2006	Multilocus genetic interactions between variant drug metabolism and transporter genes may predict efavirenz pharmacokinetics and treatment responses.		efavirenz nelfinavir nucleoside analogues									
146494	N	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Barragan, E.  et al. 2006	17118447				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		124010		CDC	2006			chemotherapy									
146495	Y	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Crettol, S.  et al. 2006	17178267				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		124010		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146497		breast cancer paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Breast Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Marsh, S.  et al. 2007	17224914				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenomics J    2007	Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer		124010		CDC	2007			paclitaxel									
146498	N	multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Schilthuizen, C.  et al. 2007	17296590				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		124010		CDC	2007			chemotherapy									
146499	N	nevaprine pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Penzak, S.  et al. 2007	17352764				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Caucasian;European		CDC GDP info	1574	Hs.654391			HIV Med    2007    8(2)    86-91	Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda		124010		CDC	2007	CYP2B6 G516T significantly influenced nevirapine trough concentrations in HIV-infected patients in Uganda. Additional studies in larger patient populations are necessary to further define the potential clinical impact of these preliminary findings.											
146500		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Jeannot, E.  et al. 2007	17363580				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		124010		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
146501		6beta-hydroxylation of cortisol	METABOLIC	MET		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Shchepotina, E. G.  et al. 2006	17364054				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Bull Exp Biol Med    2006    141(6)    701-3	Some Mutations of Exon-7 in Cytochrome P450 Gene 3A4 and Their Effect on 6beta-Hydroxylation of Cortisol		124010		CDC	2006												
146503		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Rebbeck, T. R.  et al. 2007	17372239				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	African American;European	Pennsylvania	CDC GDP info	1574	Hs.654391			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		124010		CDC	2007												
146504		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Pillot, G. A.  et al. 2006	17409981				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		124010		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
146505	Y	endometrial cancer	CANCER	CAN	Breast Neoplasms|Endometrial Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Chu, W.  et al. 2007	17434921				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Carcinogenesis    2007	Association between CYP3A4 genotype and risk of endometrial cancer following tamoxifen use		124010		CDC	2007			tamoxifen									
146506	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Klotsman, M.  et al. 2007	17460547				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		124010		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
146508	N	prostate cancer	PHARMACOGENOMIC	PHARM	Prostatic Neoplasms|Disease Progression	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Roach, M. = 3rd et al. 2007	17498886				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	African American;European		CDC GDP info	1574	Hs.654391			Int J Radiat Oncol Biol Phys    2007	Racial Differences in CYP3A4 Genotype and Survival Among Men Treated on Radiation Therapy Oncology Group (RTOG) 9202		124010		CDC	2007			flutamide foserelin radiation									
146509	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Nakajima, M.  et al. 2007	17502835				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		124010		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
146510		1-hydroxypyrene, urinary OH-phenanthrenes	METABOLIC	MET		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Rihs, H. P.  et al. 2007	17503272				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			J Occup Environ Hyg    2007    4 Suppl 1    65-71	Determination of sequence variants of metabolizing enzymes after occupational exposure to fumes of bitumen under high processing temperatures		124010		CDC	2007			bitumen									
146511		docetaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Lewis, L. D.  et al. 2007	17545536				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	Caucasian		CDC GDP info	1574	Hs.654391			Clin Cancer Res    2007    13(11)    3302-11	A Comparison of the Pharmacokinetics and Pharmacodynamics of Docetaxel between African-American and Caucasian Cancer Patients		124010		CDC	2007	Docetaxel clearance and its associated myelosuppression were similar in African-American and Caucasian cancer patients.											
146512	N	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Nock, N. L.  et al. 2007	17548691				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	African American;Caucasian		CDC GDP info	1574	Hs.654391			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		124010		CDC	2007			smoking (tobacco)									
146513	P		NORMALVARIATION	NV		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Ruzilawati, A. B.  et al. 2007	17601520				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Chim Acta    2007	Genetic polymorphisms of CYP3A4		124010		CDC	2007	The present study describes polymorphisms of CYP3A4 among Malaysian subjects.											
146515	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Bethke, L.  et al. 2007	17615053				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		124010		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146516	P		NORMALVARIATION	NV		7	7q21.1	CYP3A43	99083752	99170757		Shchepotina, E. G.  et al. 2005	16848237				Cytochrome P450, family 3, subfamily A, polypeptide 43	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022820.3			CDC GDP info	64816	Hs.306220			Bull Exp Biol Med    2005    140(6)    726-8	Analysis of restriction fragment length polymorphism of cytochrome P450 3A43 gene and evaluation of the incidence of CYP3A43*1B allele in europeoid residents of West Siberia		606534		CDC	2005												
146517		diltiazem pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Yamamoto, T.  et al. 2005	16024008				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Chim Acta    2005    362(1-2)    147-54	Effects of the CYP3A5 genetic polymorphism on the pharmacokinetics of diltiazem		605325		CDC	2005	The results suggest that CYP3A5*3 has only a minor effect on the pharmacokinetics and metabolism of diltiazem. Although our results did not indicate significance of CYP3A5, the effects of CYP3A5*3 on the metabolism of other CYP3A substrates remain to be investigated.											
146518	Y	saquinavir pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Mouly, S. J.  et al. 2005	16338276	CYP3A5*1			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2005    78(6)    605-18	Variation in oral clearance of saquinavir is predicted by CYP3A5*1 genotype but not by enterocyte content of cytochrome P450 3A5		605325		CDC	2005	The CYP3A5*1 genotype is associated with$$$ increased saquinavir CL/F. This does not appear to reflect intestinal CYP3A5 expression and presumably reflects the contribution of hepatic CYP3A5. The interaction with Seville orange juice in subjects not expressing CYP3A5 supports a role for intestinal CYP3A4. However, the modest nature of the interaction, combined with the inability to detect a correlation between CL/F and CYP3A4 enterocyte content, supports our recent in vitro work suggesting a smaller contribution of intestinal CYP3A4 than has been assumed.											
146519	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757			16421475				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Transplantation    2006    81(1)    46-51	Influence of CYP3A5 Gene Polymorphisms of Donor Rather than Recipient to Tacrolimus Individual Dose Requirement in Liver Transplantation		605325		CDC	2006	The large interindividual variation of tacrolimus dose requirement is influenced by the metabolic activity of CYP3A5.											
146520	P		NORMALVARIATION	NV		7	7q21.1	CYP3A5	99083752	99170757		Quaranta, S.  et al. 2006	16442753				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	French		CDC GDP info	1574	Hs.150276			Toxicol Lett    2006	Identification by single-strand conformational polymorphism analysis of known and new mutations of the CYP3A5 gene in a French population		605325		CDC	2006												
146521	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Katz, D. A.  et al. 2006	16513443				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		605325		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
146523	Y	blood pressure, arterial kidney function	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A5	99083752	99170757		Bochud, M.  et al. 2006	16612255	CYP3A5*1			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Indian		CDC GDP info	1574	Hs.150276			J Hypertens    2006    24(5)    923-929	Association of CYP3A5 genotypes with blood pressure and renal function in African families		605325		CDC	2006	These data demonstrate that CYP3A5 polymorphisms are associated with ambulatory BP, CYP3A5*1 carriers showing a higher age- and sodium- related increase in ABP than non-carriers. The age effect may be due, in part, to the action of CYP3A5 on renal sodium handling.											
146524		kidney transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Eng, H. S.  et al. 2006	16612333				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Kidney Int    2006	The influence of CYP3A gene polymorphisms on cyclosporine dose requirement in renal allograft recipients		605325		CDC	2006			cyclosporine									
146525	N	DNA damage	OTHER	OTH	DNA Damage	7	7q21.1	CYP3A5	99083752	99170757		Liu, Y. J.  et al. 2006	16614106				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		605325		CDC	2006			pesticide exposure									
146526	Y	liver transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Wei-Lin, W.  et al. 2006	16628701				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Liver Transpl    2006    12(5)    775-780	Tacrolimus dose requirement in relation to donor and recipient ABCB1 and CYP3A5 gene polymorphisms in Chinese liver transplant patients		605325		CDC	2006	our finding suggests that the recipients\ ABCB1 and donors\ CYP3A5 genotype affect the tacrolimus dose requirements. ABCB1 C3435T polymorphism is a major determinant of tacrolimus trough concentration in Chinese liver transplant recipients, and recipients with 3435CC genotype will require higher dose of tacrolimus.		tacrolimus									
146528		cardiac death myocardial infarct stroke	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Suh, J. W.  et al. 2006	16698990				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			CMAJ    2006	Increased risk of atherothrombotic events associated with cytochrome P450 3A5 polymorphism in patients taking clopidogrel		605325		CDC	2006			clopidogrel itraconazole									
146529	Y	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Tran, A.  et al. 2006	16765145				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		605325		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
146530	Y	alprazolam pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Park, J. Y.  et al. 2006	16765147				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    79(6)    590-599	Effect of CYP3A5*3 genotype on the pharmacokinetics and pharmacodynamics of alprazolam in healthy subjects		605325		CDC	2006	The CYP3A5*3 genotype affects the disposition of alprazolam and thus influences the plasma levels of alprazolam.											
146531	N	clopidogrel pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Smith, S. M.  et al. 2006	16769602				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Platelets    2006    17(4)    250-8	Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy		605325		CDC	2006	common sequence variations within the P2Y12 and CYP3A5 genes do not contribute any major effect to the inter-patient variability in clopidogrel efficacy.											
146532			NORMALVARIATION	NV		7	7q21.1	CYP3A5	99083752	99170757		Bosch, T. M.  et al. 2006	16771603				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian		CDC GDP info	1574	Hs.150276			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		605325		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146533		platelet aggregation	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Hulot, J. S.  et al. 2006	16772608				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Blood    2006	Cytochrome P450 2C19 loss-of-function polymorphism is a major determinant of clopidogrel responsiveness in healthy subjects		605325		CDC	2006			clopidogrel									
146534		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	CYP3A5	99083752	99170757		Anderson, P. L.  et al. 2006	16791115				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		605325		CDC	2006												
146535	Y	sirolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Meur, Y. L.  et al. 2006	16815317				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    80(1)    51-60	CYP3A5*3 influences sirolimus oral clearance in de novo and stable renal transplant recipients		605325		CDC	2006	These results confirm that sirolimus metabolic activity and oral clearance are significantly decreased in patients who are homozygous for the CYP3A5*3 single-nucleotide polymorphism and suggest that the determination of this polymorphism could be useful for a priori dose adjustment of sirolimus, given the long half-life of this drug.											
146536	N	blood pressure, arterial hypertension left ventricular mass	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	7	7q21.1	CYP3A5	99083752	99170757		Lieb, W.  et al. 2006	16822233	CYP3A5*1			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian		CDC GDP info	1574	Hs.150276			Clin Sci (Lond)    2006	No association of the CYP3A5*1 allele with blood pressure and left ventricular mass and geometry		605325		CDC	2006												
146537		cyclosporine pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Azarpira, N.  et al. 2006	16827636				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Iranian		CDC GDP info	1574	Hs.150276			Exp Clin Transplant    2006    4(1)    416-9	Association between Cyclosporine Concentration and Genetic Polymorphisms of CYP3A5 and MDR1 during the Early Stage after Renal Transplantation		605325		CDC	2006	MDR-1 (3435CC) polymorphisms are associated with CsA pharmacokinetics and dose requirements in the first few days after renal transplantation. Pharmacogenetic methods could be used to help select the initial dosage and individualize immunosuppressive therapy. According to our results, the major genotype of our recipients is CYP3A5*3/*3. According to the literature, the recommended starting dosage of CsA is 9-14 mg/kg/day; however, the Iranian population has a good response with lower dosages (3-5 mg/kg/day), which may be explained by genetic differences.											
146538	N	ebastine metabolism	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	CYP3A5	99083752	99170757		Gervasini, G.  et al. 2006	16842392				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian		CDC GDP info	1574	Hs.150276			Br J Clin Pharmacol    2006    62(2)    177-86	The effect of CYP2J2, CYP3A4, CYP3A5 and the MDR1 polymorphisms and gender on the urinary excretion of the metabolites of the H-receptor antihistamine ebastine		605325		CDC	2006	Gender and the presence of the MDR1(C3435T) polymorphism both influence the excretion of ebastine metabolites in urine.											
146539		rifampicin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Niemi, M.  et al. 2006	16847425				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pharmacogenet Genomics    2006    16(8)    565-568	Effect of SLCO1B1 polymorphism on induction of CYP3A4 by rifampicin		605325		CDC	2006												
146540	P	quinine 3-hydroxylation	METABOLIC	MET		7	7q21.1	CYP3A5	99083752	99170757		Mirghani, R. A.  et al. 2006	16906018				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Swedish;Caucasian		CDC GDP info	1574	Hs.150276			Pharmacogenet Genomics    2006    16(9)    637-645	CYP3A5 genotype has significant effect on quinine 3-hydroxylation in Tanzanians, who have lower total CYP3A activity than a Swedish population		605325		CDC	2006	Clear interethnic differences were observed in the activity of CYP3A between Tanzanians and Swedes.											
146542	Y	liver transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Fukudo, M.  et al. 2006	17015051				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    80(4)    331-45	Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients		605325		CDC	2006	The enterocyte MDR1 mRNA level and the CYP3A5*1 allele in the graft liver contribute differently to the interindividual variability in the oral clearance of tacrolimus after living-donor liver transplantation.		tacrolimus									
146543		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM	Body Weight	7	7q21.1	CYP3A5	99083752	99170757		Mourad, M.  et al. 2006	17032130				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Chem Lab Med    2006    44(10)    1192-8	The influence of genetic polymorphisms of cytochrome P450 3A5 and ABCB1 on starting dose- and weight-standardized tacrolimus trough concentrations after kidney transplantation in relation to renal function		605325		CDC	2006	Prospective trials are needed to prove that a genetic approach to Tc pharmacokinetics and its related side effects during the early period after grafting may improve patient outcome.											
146544	Y	kidney transplant	RENAL	REN		7	7q21.1	CYP3A5	99083752	99170757		Hu, Y. F.  et al. 2006	17042920				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Exp Pharmacol Physiol    2006    33(11)    1093-8	Effects of genetic polymorphisms of cyp3a4, cyp3a5 and mdr1 on cyclosporine pharmacokinetics after renal transplantation		605325		CDC	2006	the present study shows that genetic polymorphisms in CYP3A5 may be responsible, in part, for the large interindividual variability of cyclosporine pharmacokinetics during the early phase after renal transplantation in Chinese patients.											
146545		HIV	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Motsinger, A. A.  et al. 2006	17047492				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pharmacogenet Genomics    2006    16(11)    837-45	Multilocus genetic interactions and response to efavirenz-containing regimens		605325		CDC	2006	Multilocus genetic interactions between variant drug metabolism and transporter genes may predict efavirenz pharmacokinetics and treatment responses.		efavirenz nelfinavir nucleoside analogues									
146546	Y	sirolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Djebli, N.  et al. 2006	17048977				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacokinet    2006    45(11)    1135-48	Sirolimus population pharmacokinetic/pharmacogenetic analysis and bayesian modelling in kidney transplant recipients		605325		CDC	2006	This study presents an accurate population pharmacokinetic model showing the significant influence of the CYP3A5*1/*3 polymorphism on sirolimus apparent oral clearance, and a Bayesian estimator accurately predicting sirolimus pharmacokinetics in patients co-administered mycophenolate mofetil, but no calcineurin inhibitor.											
146547	Y	tacrolimus pharmcokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Haufroid, V.  et al. 2006	17049058				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Am J Transplant    2006    6(11)    2706-13	CYP3A5 and ABCB1 Polymorphisms and Tacrolimus Pharmacokinetics in Renal Transplant Candidates		605325		CDC	2006	our study confirms the very significant effect of CYP3A5 polymorphism early after the first administration of Tac.											
146548	N	cyclosporine metabolism	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Chu, X. M.  et al. 2006	17049128				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Acta Pharmacol Sin    2006    27(11)    1504-8	Influence of CYP3A5 genetic polymorphism on cyclosporine A metabolism and elimination in Chinese renal transplant recipients		605325		CDC	2006	The CYP3A5*3 polymorphism exerted little effect on cyclosporine metabolism. The MR may be a more accurate indicator for therapeutic drug monitoring, considering its integrated information on body exposure of both parent drugs and metabolites.											
146549	P		NORMALVARIATION	NV		7	7q21.1	CYP3A5	99083752	99170757		Quaranta, S.  et al. 2006	17162466				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian;French;Tunisian		CDC GDP info	1574	Hs.150276			Xenobiotica    2006    36(12)    1191-200	Ethnic differences in the distribution of CYP3A5 gene polymorphisms		605325		CDC	2006												
146551	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	7	7q21.1	CYP3A5	99083752	99170757		Crettol, S.  et al. 2006	17178267				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		605325		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
146553		sirolimus pharmacokinetics tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Renders, L.  et al. 2006	17192769				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2006	CYP3A5 Genotype Markedly Influences the Pharmacokinetics of Tacrolimus and Sirolimus in Kidney Transplant Recipients		605325		CDC	2006												
146554		heart transplant	CARDIOVASCULAR	CARD		7	7q21.1	CYP3A5	99083752	99170757		Girnita, D. M.  et al. 2006	17198275				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Hispanic Caucasian		CDC GDP info	1574	Hs.150276			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		605325		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
146555		breast cancer paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Breast Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Marsh, S.  et al. 2007	17224914				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pharmacogenomics J    2007	Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer		605325		CDC	2007			paclitaxel									
146556		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Wegman, P.  et al. 2007	17244352				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Breast Cancer Res    2007    9(1)    R7	Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal breast cancer patients		605325		CDC	2007	The metabolism of tamoxifen is complex and the mechanisms responsible for the resistance are unlikely to be explained by a single polymorphism; instead it is a combination of several mechanisms.		tamoxifen									
146558	P		NORMALVARIATION	NV		7	7q21.1	CYP3A5	99083752	99170757		Li, D.  et al. 2007	17286792				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Chinese;Caucasian	China	CDC GDP info	1574	Hs.150276			J Clin Pharm Ther    2007    32(1)    89-95	Genetic polymorphisms in MDR1 and CYP3A5 and MDR1 haplotype in mainland Chinese Han, Uygur and Kazakh ethnic groups		605325		CDC	2007	Significant interethnic differences in MDR1 haplotype and CYP3A5 variant frequencies exist between mainland Chinese Han and Caucasians, and the intermediate frequencies observed in Chinese Uygur and Kazakh might be due to the genetic admixture of Eurasians and Orientals.											
146559	N	multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	7	7q21.1	CYP3A5	99083752	99170757		Schilthuizen, C.  et al. 2007	17296590				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		605325		CDC	2007			chemotherapy									
146560		saquinavir pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Josephson, F.  et al. 2007	17329995				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007	CYP3A5 Genotype has an Impact on the Metabolism of the HIV Protease Inhibitor Saquinavir		605325		CDC	2007	saquinavir is metabolized by CYP3A5.											
146561	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	7	7q21.1	CYP3A5	99083752	99170757		Langaee, T. Y.  et al. 2007	17339868				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007    81(3)    386-91	Association of CYP3A5 Polymorphisms with Hypertension and Antihypertensive Response to Verapamil		605325		CDC	2007			verapamil									
146562	N	nevaprine pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	CYP3A5	99083752	99170757		Penzak, S.  et al. 2007	17352764				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian;European		CDC GDP info	1574	Hs.150276			HIV Med    2007    8(2)    86-91	Cytochrome P450 2B6 (CYP2B6) G516T influences nevirapine plasma concentrations in HIV-infected patients in Uganda		605325		CDC	2007	CYP2B6 G516T significantly influenced nevirapine trough concentrations in HIV-infected patients in Uganda. Additional studies in larger patient populations are necessary to further define the potential clinical impact of these preliminary findings.											
146564		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Jeannot, E.  et al. 2007	17363580				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		605325		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
146565		aldosterone blood pressure, arterial renin activity	METABOLIC	MET	Hypertension	7	7q21.1	CYP3A5	99083752	99170757		Eap, C. B.  et al. 2007	17372036				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Hypertension    2007	CYP3A5 and ABCB1 Genes Influence Blood Pressure and Response to Treatment, and Their Effect Is Modified by Salt		605325		CDC	2007												
146566		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Miura, M.  et al. 2007	17377957				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Biopharm Drug Dispos    2007    28(4)    167-175	Influence of rabeprazole and lansoprazole on the pharmacokinetics of tacrolimus in relation to CYP2C19, CYP3A5 and MDR1 polymorphisms in renal transplant recipients		605325		CDC	2007												
146568		ciclosporin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Fredericks, S.  et al. 2007	17425754				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Transplant    2007    21(2)    252-7	Multi-drug resistance gene-1 (MDR-1) haplotypes and the CYP3A5*1 genotype have no influence on ciclosporin dose requirements as assessed by C0 or C2 measurements		605325		CDC	2007												
146569		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Ferraresso, M.  et al. 2007	17430486				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pediatr Transplant    2007    11(3)    296-300	Influence of the Cyp3a5 genotype on tacrolimus pharmacokinetics and pharmacodynamics in young kidney transplant recipients		605325		CDC	2007												
146570	Y	verapamil pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Jin, Y.  et al. 2007	17443134	CYP3A5  3A5 Genotype			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007	Cytochrome P450 3A5 Genotype is Associated with Verapamil Response in Healthy Subjects		605325		CDC	2007												
146572		nephrotoxicityy, drug-related	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic	7	7q21.1	CYP3A5	99083752	99170757		Kuypers, D. R.  et al. 2007	17495880				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007	CYP3A5 and CYP3A4 but not MDR1 Single-nucleotide Polymorphisms Determine Long-term Tacrolimus Disposition and Drug-related Nephrotoxicity in Renal Recipients		605325		CDC	2007												
146573		imatinib toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Gastrointestinal Stromal Tumors	7	7q21.1	CYP3A5	99083752	99170757		Gurney, H.  et al. 2007	17495881				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007	Imatinib Disposition and ABCB1 (MDR1, P-Glycoprotein) Genotype		605325		CDC	2007												
146574	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Nakajima, M.  et al. 2007	17502835				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		605325		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
146576	N	indinavir pharmacokinetics	PHARMACOGENOMIC	PHARM	HIV Infections	7	7q21.1	CYP3A5	99083752	99170757		Solas, C.  et al. 2007	17517050				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Br J Clin Pharmacol    2007	Minimal effect of MDR1 and CYP3A5 genetic polymorphisms on the pharmacokinetics of indinavir in HIV-infected patients		605325		CDC	2007	s The MDR1 C3435T genotype affects the absorption constant of indinavir suggesting that P-gp may be implicated in its pharmacokinetic variability. Through its inhibition of CYP3A and P-gp, ritonavir could attenuate the pharmacokinetic variability linked to genetic differences, reducing significantly the interindividual variability of indinavir. However, genotyping MDR1 and/or CYP3A5 to optimize protease inhibitor boosted regimens does not seem clinically relevant.											
146577		docetaxel pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Lewis, L. D.  et al. 2007	17545536				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Caucasian		CDC GDP info	1574	Hs.150276			Clin Cancer Res    2007    13(11)    3302-11	A Comparison of the Pharmacokinetics and Pharmacodynamics of Docetaxel between African-American and Caucasian Cancer Patients		605325		CDC	2007	Docetaxel clearance and its associated myelosuppression were similar in African-American and Caucasian cancer patients.											
146578		alfentanil pharmacokinetics midazolam pharmacokinetics	PHARMACOGENOMIC	PHARM	Miosis	7	7q21.1	CYP3A5	99083752	99170757		Kharasch, E. D.  et al. 2007	17554244				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Pharmacol Ther    2007	Influence of CYP3A5 Genotype on the Pharmacokinetics and Pharmacodynamics of the Cytochrome P4503A Probes Alfentanil and Midazolam		605325		CDC	2007												
146580	N	colorectal cancer liver cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Liver Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Gervasini, G.  et al. 2007	17605821				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			BMC Cancer    2007    7(1)    118	Genetic variability in CYP3A4 and CYP3A5 in primary liver, gastric and colorectal cancer patients		605325		CDC	2007	Common polymorphisms on CYP3A4 and CYP3A5 genes do not modify the risk of developing digestive cancers in Western Europe.											
146581	N	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q21.1	CYP3A5	99083752	99170757		Bethke, L.  et al. 2007	17615053				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			BMC Cancer    2007    7(1)    123	Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk		605325		CDC	2007	This study provides some support for polymorphic variation in CYP1A2 and CYP1B1 playing a role in CRC susceptibility.											
146582	N	CYP3A activity	NORMALVARIATION	NV		7	7q22.1	CYP3A5P1				Zhu, B.  et al. 2002	12060534				cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1				CDC GDP info	1578				Acta Pharmacol Sin    2002    23    567-72	Genotype of CYP3AP1 associated with CYP3A activity in Chinese Han population.				CDC	2002	There was association between the genotype of CYP3AP1 and increased activity of CYP3A in vivo.											
146583		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q22.1	CYP3A5P1				Pan, J. H.  et al. 2007	17450472				cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 1				CDC GDP info	1578				Acta Oncol    2007    46(3)    361-6	CYP450 polymorphisms predict clinic outcomes to vinorelbine-based chemotherapy in patients with non-small-cell lung cancer				CDC	2007			vinorelbine									
146584		bone density dehydroepiandrosterone sulfate levels	METABOLIC	MET		7	7q21-q22.1	CYP3A7	99140595	99170757		Bacsi, K.  et al. 2007	17334880				Cytochrome P450, family 3, subfamily A, polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000765.2			CDC GDP info	1551	Hs.111944			Calcif Tissue Int    2007	CYP3A7*1C Polymorphism, Serum Dehydroepiandrosterone Sulfate Level, and Bone Mineral Density in Postmenopausal Women		605340		CDC	2007												
146585	P		NORMALVARIATION	NV		7	7q21-q22.1	CYP3A7	99140595	99170757		Du, J.  et al. 2007	17559345				Cytochrome P450, family 3, subfamily A, polypeptide 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000765.2			CDC GDP info	1551	Hs.111944			Pharmacogenomics    2007    8(6)    559-566	Screening for SNPs and haplotypes in the CYP3A7 gene in Chinese populations		605340		CDC	2007	Some allele and haplotype frequencies show variation among groups, highlighting the need to analyze clinically relevant SNPs and haplotypes in a variety of different racial groups within the Chinese population as well as in other ethnic groups.											
146587	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Ma, S. L.  et al. 2006	16734927				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDP info	10858	Hs.25121			Int Psychogeriatr    2006    18(1)    37-45	Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population		604087		CDC	2006	We found that the IVS3-128 polymorphism was associated with the risk of AD (p < 0.05). Subjects homozygous for the C alleles were protected from AD with an adjusted odds ratio (OR) of 1.53 [95% confidence interval (95% CI) 0.98-2.37, p = 0.047]. However, another minor allele, IVS1-192 C, was more prevalent in the AD group and was associated with an increased											
146589		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q32.1	CYP46A1	99220507	99263391		Wang, F.  et al. 2007	17335784				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDP info	10858	Hs.25121			Brain Res    2007	Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese		604087		CDC	2007												
146590	N	Alzheimer's disease	NEUROLOGICAL	NEUR		14	14q32.1	CYP46A1	99220507	99263391		Wang, F.  et al. 2007	17550732				Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDP info	10858	Hs.25121			Zhonghua Yi Xue Za Zhi    2007    87(9)    614-8	Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease		604087		CDC	2007	The CYP46 intron 2 polymorphism may not be associated with the risk of AD, but AA genotype or A allele of ABCA1 gene may have a protective effect for AD in Han Chinese.											
146591	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	1	1p33	CYP4A11	47167432	47180004		Mayer, B.  et al. 2006	16957555				Cytochrome P450, family 4, subfamily A, polypeptide 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000778.2			CDC GDP info	1579	Hs.1645			J Hypertens    2006    24(10)    1965-1970	Association of a functional polymorphism in the CYP4A11 gene with systolic blood pressure in survivors of myocardial infarction		601310		CDC	2006	The data obtained in the present study strengthen the evidence of an association of the CYP4A11 T8590C polymorphism with blood pressure levels and hypertension prevalence.											
146592	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	19	19pter-p13.11	CYP4F2	15849833	15869884		Liu, H.  et al. 2006	16733892	G421C			Cytochrome P450, family 4, subfamily F, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U02388			CDC GDP info	8529	Hs.558423			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    143-7	Correlation analysis and identification of G421C in regulatory region of CYP4F2 gene with essential hypertension				CDC	2006	G421C polymorphism in the regulatory region of CYP4F2 gene is correlated with essential hypertension.											
146593		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Tabata, S.  et al. 2006	16630139				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDP info	1581	Hs.1644			Cancer Sci    2006    97(5)    406-10	Genetic polymorphism of cholesterol 7alpha-hydroxylase (CYP7A1) and colorectal adenomas		118455		CDC	2006												
146594	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8q11-q12	CYP7A1	59565291	59575275		Klos, K. L.  et al. 2006	16763159				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDP info	1581	Hs.1644			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		118455		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
146595		cholesterol, LDL	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	8	8q11-q12	CYP7A1	59565291	59575275		Takane, H.  et al. 2006	16917677				Cytochrome P450, family 7, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000780.2			CDC GDP info	1581	Hs.1644			J Hum Genet    2006	Pharmacogenetic determinants of variability in lipid-lowering response to pravastatin therapy		118455		CDC	2006			pravastatin									
146597		asthma rhinitis	IMMUNE	IMM	Asthma|Rhinitis	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Zhang, J.  et al. 2006	16771777				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDP info	10800	Hs.201300			Pediatr Allergy Immunol    2006    17(4)    242-9	Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitis		300201		CDC	2006												
146598	N	asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity|Genetic Predisposition to Disease	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Hao, L.  et al. 2006	16776674				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDP info	10800	Hs.201300			Clin Exp Allergy    2006    36(6)    735-41	The cysteinyl-leukotriene type 1 receptor polymorphism 927T/C is associated with atopy severity but not with asthma		300201		CDC	2006												
146600		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Sanz, C.  et al. 2006	17153879				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2		Spain	CDC GDP info	10800	Hs.201300			J Investig Allergol Clin Immunol    2006    16(6)    331-7	Analysis of 927T> C CYSLTRI and -444A > C LTC4S polymorphisms in patients with asthma		300201		CDC	2006	The results suggest a certain trend of associations that could help to explain some controversial results in association studies of these genes from the leukotriene pathway, when considered individually.											
146601	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Klotsman, M.  et al. 2007	17460547				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDP info	10800	Hs.201300			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		300201		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
146602	Y	asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Thompson, M. D.  et al. 2007	17558309	CYSLTR1   G300S			Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDP info	10800	Hs.201300			Pharmacogenet Genomics    2007    17(7)    539-549	A functional G300S variant of the cysteinyl leukotriene 1 receptor is associated with atopy in a Tristan da Cunha isolate		300201		CDC	2007												
146603		asthma rhinitis	IMMUNE	IMM	Asthma|Rhinitis	13	13q14.12-q21.1	CYSLTR2	48178951	48181499		Zhang, J.  et al. 2006	16771777				Cysteinyl leukotriene receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020377.2			CDC GDP info	57105	Hs.253706			Pediatr Allergy Immunol    2006    17(4)    242-9	Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitis		605666		CDC	2006												
146605	Y	bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia	3	3p21	DAG1	49482594	49548048		Concolino, P.  et al. 2007	17196572				Dystroglycan 1 (dystrophin-associated glycoprotein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004393			CDC GDP info	1605	Hs.76111			Clin Chim Acta    2007    378(1-2)    164-7	Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns		128239		CDC	2007	Our data enrich the list of DAG1 SNPs and could be useful to trigger further genetic studies about the involvement of DG in human diseases.											
146606	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	12	12q24	DAO	107776836	107801676		Wood, L. S.  et al. 2006	17055463				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3			CDC GDP info	1610	Hs.113227			Biol Psychiatry    2006	Significant Support for DAO as a Schizophrenia Susceptibility Locus		124050		CDC	2006	Our results significantly support DAO as a susceptibility locus for schizophrenia and offer some support for the implication of both RGS4 and DISC1 in the etiology of schizophrenia.											
146607		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12q24	DAO	107776836	107801676		Li, D.  et al. 2007	17179078				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3			CDC GDP info	1610	Hs.113227			Genetics    2007    175(2)    917-22	G72/G30 genes and schizophrenia		124050		CDC	2007												
146608	N	cognitive function schizotypy	PSYCH	PSY	Schizotypal Personality Disorder|Schizophrenia	12	12q24	DAO	107776836	107801676		Stefanis, N. C.  et al. 2007	17336946				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3			CDC GDP info	1610	Hs.113227			Biol Psychiatry    2007	Impact of Schizophrenia Candidate Genes on Schizotypy and Cognitive Endophenotypes at the Population Level		124050		CDC	2007	The DTNP1 and, less so, NRG1 and DAAO variants might exert gene-specific modulating effects on schizophrenia endophenotypes at the population level.											
146610		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12q24	DAO	107776836	107801676		Corvin, A.  et al. 2007	17492767				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3	Caucasian		CDC GDP info	1610	Hs.113227			Am J Med Genet B Neuropsychiatr Genet    2007	Evidence for association and epistasis at the DAOA/G30 and D-amino acid oxidase loci in an Irish schizophrenia sample		124050		CDC	2007												
146611	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384			16402132				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2	Chinese;European;Scottish;Asian		CDC GDP info	267012	Hs.381382			Mol Psychiatry    2006	Further evidence for the association between G72/G30 genes and schizophrenia in two ethnically distinct populations		607408		CDC	2006												
146612		cognitive function schizophrenia	PSYCH	PSY	Cognition Disorders	13	13q33.2	DAOA	104916216	104941384		Goldberg, T. E.  et al. 2006	16554747				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Neuropsychopharmacology    2006	The G72/G30 Gene Complex and Cognitive Abnormalities in Schizophrenia		607408		CDC	2006												
146613		bipolar disorder schizophrenia	PSYCH	PSY	Disease Models, Animal|Bipolar Disorder|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Detera-Wadleigh, S. D.  et al. 2006	16581030				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Biol Psychiatry    2006	G72/G30 in Schizophrenia and Bipolar Disorder		607408		CDC	2006												
146615		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Hong, C. J.  et al. 2006	16791105				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Neuroreport    2006    17(10)    1067-1069	Family-based association study between G72/G30 genetic polymorphism and schizophrenia		607408		CDC	2006												
146616	N	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Liu, Y. L.  et al. 2006	16842973				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Schizophr Res    2006    87(1-3)    15-20	No association of G72 and D-amino acid oxidase genes with schizophrenia		607408		CDC	2006												
146617		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Nicodemus, K. K.  et al. 2006	17006672				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2	German		CDC GDP info	267012	Hs.381382			Hum Genet    2006	Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1		607408		CDC	2006												
146618	Y	depression	PSYCH	PSY		13	13q33.2	DAOA	104916216	104941384		Hong, W.  et al. 2006	17029202	DAOA  C allele of rs947267			D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    532-535	Association between depression and G72 gene polymorphism.	rs947267	607408		CDC	2006	The G72 gene polymorphism may be associated with female depressive patients without mixed family history,C allele of rs947267 may be the risk factor.		family history									
146619		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Wood, L. S.  et al. 2006	17055463				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Biol Psychiatry    2006	Significant Support for DAO as a Schizophrenia Susceptibility Locus		607408		CDC	2006	Our results significantly support DAO as a susceptibility locus for schizophrenia and offer some support for the implication of both RGS4 and DISC1 in the etiology of schizophrenia.											
146620		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Li, D.  et al. 2007	17179078				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Genetics    2007    175(2)    917-22	G72/G30 genes and schizophrenia		607408		CDC	2007												
146623	N	schizophrenia	PSYCH	PSY		13	13q33.2	DAOA	104916216	104941384		Vilella, E.  et al. 2007	17408693				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			J Psychiatr Res    2007	Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction		607408		CDC	2007	these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes.											
146624	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Bakker, S. C.  et al. 2007	17410640				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Genes Brain Behav    2007    6(2)    113-9	The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia		607408		CDC	2007	our data provide further evidence that specific genes may be involved in different schizophrenia subtypes and suggest that the PIP5K2A gene deserves further study as a general susceptibility gene for schizophrenia.											
146625		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Corvin, A.  et al. 2007	17492767				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2	Caucasian		CDC GDP info	267012	Hs.381382			Am J Med Genet B Neuropsychiatr Genet    2007	Evidence for association and epistasis at the DAOA/G30 and D-amino acid oxidase loci in an Irish schizophrenia sample		607408		CDC	2007												
146627			NORMALVARIATION	NV		1	1q21-q22	DARC	157441133	157442914		Yan, L.  et al. 2005	15783300				Duffy blood group, chemokine receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430		China	CDC GDP info	2532	Hs.153381			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.				CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
146628		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	DAXX	33394378	33398682		van der Slik, A. R.  et al. 2007	17389020				Death-associated protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209493			CDC GDP info	1616	Hs.336916			Tissue Antigens    2007    69(4)    348-53	Sequence variation within the major histocompatibility complex subregion centromeric of HLA class II in type 1 diabetes		603186		CDC	2007												
146629			REPRODUCTION	REP	Oligospermia	Y	Yq11.223	DAZ1	23684894	23754545		Yang, Y.  et al. 2006	16491269				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDP info	1617	Hs.522868			Asian J Androl    2006    8(2)    183-7	DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment		400003		CDC	2006	The presence of gr/gr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men.											
146630		azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male	Y	Yq11.223	DAZ1	23684894	23754545		Yang, Y.  et al. 2006	16580401				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDP info	1617	Hs.522868			Fertil Steril    2006    85(4)    1061-3	Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men		400003		CDC	2006												
146631		infertility, male	REPRODUCTION	REP	Oligospermia|Chromosome Deletion	Y	Yq11.223	DAZ1	23684894	23754545		Zhang, F.  et al. 2006	16674553				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4	Spanish;Chinese;European;French;German;Italian	Far East	CDC GDP info	1617	Hs.522868			Ann Hum Genet    2006    70(Pt 3)    304-13	A Frequent Partial AZFc Deletion does not Render an Increased Risk of Spermatogenic Impairment in East Asians		400003		CDC	2006												
146632		oligospermia	REPRODUCTION	REP		Y	Yq11.223	DAZ1	23684894	23754545		A, Z. C.  et al. 2006	16963411				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDP info	1617	Hs.522868			Yi Chuan    2006    28(9)    1057-60	Study on DAZ Gene Copy Deletion in Severe Oligozoospermia Sperm Donor for ICSI.		400003		CDC	2006												
146633		infertility, male	REPRODUCTION	REP		Y	Yq11.223	DAZ1	23684894	23754545		Zhang, F.  et al. 2007	17412880				Deleted in azoospermia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004081.4			CDC GDP info	1617	Hs.522868			J Med Genet    2007	Partial deletions are associated with an increased risk of complete deletion in AZFc		400003		CDC	2007	To date, these observations comprise the first evidence showing that partial AZFc deletions can increase the risk of complete AZFc deletion.											
146634			REPRODUCTION	REP	Oligospermia	Y	Yq11.223	DAZ2	23684894	23754545		Yang, Y.  et al. 2006	16491269				Deleted in azoospermia 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036648			CDC GDP info	57055	Hs.592257			Asian J Androl    2006    8(2)    183-7	DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment		400026		CDC	2006	The presence of gr/gr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men.											
146635		azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male	Y	Yq11.223	DAZ2	23684894	23754545		Yang, Y.  et al. 2006	16580401				Deleted in azoospermia 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036648			CDC GDP info	57055	Hs.592257			Fertil Steril    2006    85(4)    1061-3	Preliminary study of the relationship between DAZ gene copy deletions and spermatogenic impairment in Chinese men		400026		CDC	2006												
146637		oligospermia	REPRODUCTION	REP		Y	Yq11.223	DAZ2	23684894	23754545		A, Z. C.  et al. 2006	16963411				Deleted in azoospermia 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036648			CDC GDP info	57055	Hs.592257			Yi Chuan    2006    28(9)    1057-60	Study on DAZ Gene Copy Deletion in Severe Oligozoospermia Sperm Donor for ICSI.		400026		CDC	2006												
146638		oligospermia	REPRODUCTION	REP		Y	Yq11.223	DAZ3	23775009	23846886		A, Z. C.  et al. 2006	16963411				deleted in azoospermia 3				CDC GDP info	57054	Hs.592257			Yi Chuan    2006    28(9)    1057-60	Study on DAZ Gene Copy Deletion in Severe Oligozoospermia Sperm Donor for ICSI.		400027		CDC	2006												
146639		oligospermia	REPRODUCTION	REP		Y	Yq11.223	DAZ4	23684894	23754545		A, Z. C.  et al. 2006	16963411				Deleted in azoospermia 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005375			CDC GDP info	57135	Hs.70936			Yi Chuan    2006    28(9)    1057-60	Study on DAZ Gene Copy Deletion in Severe Oligozoospermia Sperm Donor for ICSI.				CDC	2006												
146640	N	azoospermia oligospermia	REPRODUCTION	REP	Oligospermia	3	3p24.3	DAZL	16603304	16622010		Thangaraj, K.  et al. 2006	16573709				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2	Caucasian;Indian		CDC GDP info	1618	Hs.131179			Int J Androl    2006	A to G transitions at 260, 386 and 437 in DAZL gene are not associated with spermatogenic failure in Indian population		601486		CDC	2006	these mutations in the DAZL gene are not associated with male infertility in Indian subcontinent.											
146641	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Genetic Predisposition to Disease	3	3p24.3	DAZL	16603304	16622010		Teng, Y. N.  et al. 2006	16730721				Deleted in azoospermia-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001351.2		Taiwan	CDC GDP info	1618	Hs.131179			Fertil Steril    2006	Association of DAZL haplotypes with spermatogenic failure in infertile men		601486		CDC	2006	Our study suggests the association of autosomal DAZL haplotypes with human spermatogenic failure.											
146642		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		9	9q34	DBH	135491305	135514287		Comings, D. E.  et al. 2000	11140838				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		223360		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146643		Dopamine beta-Hydroxylase Activity	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Tang, Y.  et al. 2006	16616730				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Caucasian		CDC GDP info	1621	Hs.591890			Biol Psychiatry    2006	A Single Nucleotide Polymorphism at DBH, Possibly Associated with Attention-Deficit/Hyperactivity Disorder, Associates with Lower Plasma Dopamine beta-Hydroxylase Activity and is in Linkage Disequilibrium with Two Putative Functional Single Nucleotide Pol		223360		CDC	2006	1) SNP2 associates with pDbetaH; 2) SNP2 shows LD with SNP1 and SNP3; 3) most of the association between SNP2 and pDbetaH simply reflects that LD; however, 4) SNP2 also appears to exert a small independent effect on pDbetaH, suggesting that SNP2, or another variant in LD with it, uniquely influences pDbetaH.											
146644		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Barkley, R. A.  et al. 2006	16741944				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Am J Med Genet B Neuropsychiatr Genet    2006	An examination of the behavioral and neuropsychological correlates of three ADHD candidate gene polymorphisms (DRD4 7,+ DBH TaqI A2, and DAT1 40 bp VNTR) in hyperactive and normal children followed to adulthood		223360		CDC	2006												
146645	N	hypertension, pregnancy induced	CARDIOVASCULAR	CARD		9	9q34	DBH	135491305	135514287		Zhu, H.  et al. 2006	16831359				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Zhonghua Fu Chan Ke Za Zhi    2006    41(6)    384-6	Relationship between dopamine-beta-hydroxylase gene polymorphism and hypertensive disorder complicating pregnancy.		223360		CDC	2006	The SNP at locus 589 of DbetaH gene is not associated with hypertensive disorder complicating pregnancy, nor is it associated with the severity of hypertensive disorder complicating pregnancy.											
146647	Y	paranoia	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Paranoid Disorders	9	9q34	DBH	135491305	135514287		Kalayasiri, R.  et al. 2006	17157269	\very low-activity\ T allele at DbetaH -1021C-->T			Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Biol Psychiatry    2006	Dopamine beta-Hydroxylase Gene (DbetaH) -1021C-->T Influences Self-Reported Paranoia during Cocaine Self-Administration		223360		CDC	2006	Results indicate that individuals homozygous for the \very low-activity\ T allele at DbetaH -1021C-->T show an increased propensity to paranoia over time during cocaine self-administration.		cocaine									
146648		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	9	9q34	DBH	135491305	135514287		Yoon, D. Y.  et al. 2006	17171650				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Am J Med Genet B Neuropsychiatr Genet    2006	Dopaminergic polymorphisms in Tourette syndrome		223360		CDC	2006												
146649	Y	cognitive performance	AGING	AGE		9	9q34	DBH	135491305	135514287		Togsverd, M.  et al. 2007	17200925	DBH 19bp insertion/deletion			Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Int J Geriatr Psychiatry    2007	Cognitive performance in elderly women		223360		CDC	2007	The 19bp insertion/deletion polymorphism of the DBH gene influences cognition in elderly women and might have a stronger effect than APOE epsilon4 allele status on mild cognitive impairment. Both genetic polymorphisms had a significantly smaller impact on cognition than age, education, alcohol consumption and body fat measures. Copyright (c) 2006 John Wiley & Sons, Ltd.											
146650	Y	Dopamine beta-Hydroxylase Activity	NORMALVARIATION	NV		9	9q34	DBH	135491305	135514287		Tang, Y. L.  et al. 2007	17457369				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	European		CDC GDP info	1621	Hs.591890			Eur J Hum Genet    2007	Genotypic and haplotypic associations of the DBH gene with plasma dopamine beta-hydroxylase activity in African Americans		223360		CDC	2007												
146652		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	9	9q34	DBH	135491305	135514287		Chun, L. S.  et al. 2007	17503507				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Ann Neurol    2007	DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease		223360		CDC	2007												
146653	Y	anxiety disorder panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders|Agoraphobia|Panic Disorder	2	2q12-q21	DBI	119840973	119846592		Thoeringer, C. K.  et al. 2006	16904689				Diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ278412	German		CDC GDP info	1622	Hs.78888			J Psychiatr Res    2006	Association of a Met88Val diazepam binding inhibitor (DBI) gene polymorphism and anxiety disorders with panic attacks		125950		CDC	2006	these results suggest a central role of DBI genetic variants in the susceptibility for the development of anxiety disorders that are characterized by the occurrence of panic attacks.											
146655		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q12-q21	DBI	119840973	119846592		Fisher, E.  et al. 2007	17266179				Diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ278412	European		CDC GDP info	1622	Hs.78888			Mol Nutr Food Res    2007    51(2)    185-191	Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - Role of fat assimilation		125950		CDC	2007												
146656	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	19	19q13.3	DBP	53825756	53832400			16528748				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2			CDC GDP info	1628	Hs.414480			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		124097		CDC	2006												
146658	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	19	19q13.3	DBP	53825756	53832400		Kurylowicz, A.  et al. 2006	16868893				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Polish		CDC GDP info	1628	Hs.414480			Exp Clin Endocrinol Diabetes    2006    114(6)    329-35	Vitamin D-Binding Protein (DBP) Gene Polymorphism is Associated with Graves' Disease and the Vitamin D Status in a Polish Population Study		124097		CDC	2006	(i) The DBP gene Lys allele at codon 420 confers susceptibility to GD in the Polish population, (ii) the codon 416 alleles and intron 8 (TAAA)N variants are not associated with susceptibility to and clinical phenotype of GD, and (iii) the codon 420 Lys allele correlates with lower 25(OH)D3 serum concentration.											
146659	Y	obesity	METABOLIC	MET	Obesity	19	19q13.3	DBP	53825756	53832400		Jiang, H.  et al. 2007	17342072				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Caucasian		CDC GDP info	1628	Hs.414480			Int J Obes (Lond)    2007	Association analysis of vitamin D-binding protein gene polymorphisms with variations of obesity-related traits in Caucasian nuclear families		124097		CDC	2007	Polymorphisms of DBP gene were significantly association with human PFM, especially in female, suggesting the importance of DBP gene in the pathogenesis of human obesity.											
146660		dyslexia	NEUROLOGICAL	NEUR	Dyslexia|Genetic Predisposition to Disease	6		DCDC2	24279961	24491499			16385449				Doublecortin domain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016356.3			CDC GDP info	51473	Hs.61345			Am J Hum Genet    2006    78(1)    52-62	Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia				CDC	2006												
146661		dyslexia	NEUROLOGICAL	NEUR	Dyslexia	6		DCDC2	24279961	24491499		Harold, D.  et al. 2006	17033633				Doublecortin domain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016356.3	German		CDC GDP info	51473	Hs.61345			Mol Psychiatry    2006    11(12)    1085-91, 1061	Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia				CDC	2006												
146663	N	breast cancer neutropenia	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neutropenia	4	4q13.3-q21.1	DCK	72078255	72115477		Rha, S. Y.  et al. 2007	17602053				Deoxycytidine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000788.1			CDC GDP info	1633	Hs.709			Oncologist    2007    12(6)    622-30	An Association Between RRM1 Haplotype and Gemcitabine-Induced Neutropenia in Breast Cancer Patients		125450		CDC	2007	RRM1 haplotype showed an association with susceptibility to gemcitabine monotherapy in breast cancer patients.		gemcitabine									
146664	N	myopia	VISION	VIS	Myopia|Genetic Predisposition to Disease	12	12q13.2	DCN	90063165	90100937		Wang, I. J.  et al. 2006	16902402				Decorin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001920.3			CDC GDP info	1634	Hs.642609			Mol Vis    2006    12    852-7	The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan		125255		CDC	2006	Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.											
146665	N	breast cancer neutropenia	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neutropenia	4	4q35.1	DCTD	184048237	184075624		Rha, S. Y.  et al. 2007	17602053				DCMP deaminase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012732			CDC GDP info	1635	Hs.183850			Oncologist    2007    12(6)    622-30	An Association Between RRM1 Haplotype and Gemcitabine-Induced Neutropenia in Breast Cancer Patients		607638		CDC	2007	RRM1 haplotype showed an association with susceptibility to gemcitabine monotherapy in breast cancer patients.		gemcitabine									
146667		organ failure septic shock	INFECTION	INF	Shock, Septic	6	6p21.3	DDAH2	31802795	31806018		O'Dwyer, M. J.  et al. 2006	17002794				Dimethylarginine dimethylaminohydrolase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM460795			CDC GDP info	23564	Hs.247362			Crit Care    2006    10(5)    R139	Septic shock is correlated with asymmetrical dimethyl arginine levels, which may be influenced by a polymorphism in the dimethylarginine dimethylaminohydrolase II gene		604744		CDC	2006	Severity of organ failure, inflammation and presence of early shock in severe sepsis are associated with increased ADMA levels.											
146668		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11p12-p11	DDB2	47193088	47217339			16522664				Damage-specific DNA binding protein 2, 48kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050455			CDC GDP info	1643	Hs.655280			Carcinogenesis    2006	Polymorphisms in DNA damage binding protein 2 (DDB2) and susceptibility of primary lung cancer in Chinese		600811		CDC	2006			family history smoking (tobacco)									
146669	Y	nicotine dependence smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	7	7p11	DDC	50493627	50600537		Yu, Y.  et al. 2006	16740595			Intron	Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2	European		CDC GDP info	1644	Hs.359698			Hum Mol Genet    2006	Intronic Variants in the DOPA Decarboxylase (DDC) Gene are Associated with Smoking Behavior in European-Americans and African-Americans		107930		CDC	2006												
146670		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	7	7p11	DDC	50493627	50600537		Zhang, H.  et al. 2006	17184203				Dopa decarboxylase (aromatic L-amino acid decarboxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000790.2	European		CDC GDP info	1644	Hs.359698			Pharmacogenomics    2006    7(8)    1159-1166	DOPA decarboxylase gene is associated with nicotine dependence		107930		CDC	2006	The associated haplotypes differed in the AA and EA samples.											
146672	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	17	17q21	DDX5	59926199	59932869		Huang, H.  et al. 2006	16697732				DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX571764			CDC GDP info	1655	Hs.279806			Gastroenterology    2006    130(6)    1679-87	Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C		180630		CDC	2006	Subjects with CHC carrying DDX5 minor allele or DDX5-POLG2 haplotypes are at an increased risk of developing advanced fibrosis, whereas those carrying the CPT1A minor allele are at a decreased risk.											
146673	Y	asthma atopy	IMMUNE	IMM		8	8p23.2-p23.1	DEFB1	6715508	6722939		Leung, T. F.  et al. 2006	16435024				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Chinese;Caucasian		CDC GDP info	1672	Hs.32949			Genes Immun    2006    7(1)    59-64	Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children		602056		CDC	2006												
146674	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	8	8p23.2-p23.1	DEFB1	6715508	6722939		Wohlfahrt, J. C.  et al. 2006	16512757				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDP info	1672	Hs.32949			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		602056		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
146676		HIV	INFECTION	INF	HIV Infections	8	8p23.2-p23.1	DEFB1	6715508	6722939		Milanese, M.  et al. 2006	16868452				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Brazilian	Brazil	CDC GDP info	1672	Hs.32949			AIDS    2006    20(12)    1673-5	DEFB1 gene polymorphisms and increased risk of HIV-1 infection in Brazilian children		602056		CDC	2006												
146677	P		NORMALVARIATION	NV		8	8p23.2-p23.1	DEFB1	6715508	6722939		de Oca, E. P.  et al. 2006	16984277				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDP info	1672	Hs.32949			Int J Immunogenet    2006    33(5)    339-342	SNPs in human beta-defensin 1 gene (DEFB1)		602056		CDC	2006												
146678	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	8	8p23.2-p23.1	DEFB1	6715508	6722939		Prado-Montes de Oca, E.  et al. 2006	17108702				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Mexican		CDC GDP info	1672	Hs.32949			Int Arch Allergy Immunol    2006    142(3)    211-218	Association of beta-Defensin 1 Single Nucleotide Polymorphisms with Atopic Dermatitis		602056		CDC	2006	The DEFB1 gene is probably involved in the incidence and development of AD, but additional functional studies will be necessary to understand the biological role of these SNPs.											
146679		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	8	8p23.2-p23.1	DEFB1	6715508	6722939		Hersh, C. P.  et al. 2006	17361499				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDP info	1672	Hs.32949			COPD    2006    3(4)    189-94	Genetic linkage and association analysis of COPD-related traits on chromosome 8p		602056		CDC	2006												
146681	Y	Crohn's disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	8	8p23.1-p22	DEFB4	7789608	7791647		Fellermann, K.  et al. 2006	16909382				Defensin, beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004942.2			CDC GDP info	1673	Hs.105924			Am J Hum Genet    2006    79(3)    439-48	A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon		602215		CDC	2006	a lower HBD-2 gene copy number in the beta-defensin locus predisposes to colonic CD, most likely through diminished beta-defensin expression.											
146683		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	2	2q35	DES	219991342	219999705		Taylor, M. R.  et al. 2007	17325244				Desmin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001927.3		United States	CDC GDP info	1674	Hs.594952			Circulation    2007	Prevalence of Desmin Mutations in Dilated Cardiomyopathy		125660		CDC	2007	The prevalence of DES mutations in DCM is between 1% and 2%, and mutations in the 1A helical domain, as well as the 2B rod domain, are capable of causing a DCM phenotype. The lack of severe disruption of cytoskeletal desmin network formation seen with mutations in the 1A and tail domains suggests that dysfunction of seemingly intact desmin networks is sufficient to cause DCM.											
146684	N	obesity	METABOLIC	MET	Obesity	11	11q13.5	DGAT2	75157455	75190225		Friedel, S.  et al. 2007	17477860				Diacylglycerol O-acyltransferase homolog 2 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749377			CDC GDP info	84649	Hs.334305			BMC Genet    2007    8(1)    17	Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13		606983		CDC	2007	In conclusion, our results do not support the hypothesis of an important role of common genetic variation in DGAT2 for the development of obesity in our sample.											
146685	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22		DGCR14	17497791	17512190		Wang, H.  et al. 2006	16432632			promoter	DiGeorge syndrome critical region gene 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022719.1		China	CDC GDP info	8220	Hs.517407			J Neural Transm    2006	Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia				CDC	2006												
146686	Y	schizophrenia	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	DGCR2	17403794	17489967		Shifman, S.  et al. 2006	16783572				DiGeorge syndrome critical region gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR936871	Ashkenazi;Jewish		CDC GDP info	9993	Hs.517357			Hum Genet    2006	A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia				CDC	2006												
146687	Y	bipolar disorder	PSYCH	PSY		13	13q14.11	DGKH	41520888	41728716		Baum, A. E.  et al. 2007	17486107				Diacylglycerol kinase, eta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044822	European		CDC GDP info	160851	Hs.659437			Mol Psychiatry    2007	A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder				CDC	2007												
146688		Smith-Lemli-Opitz syndrome	DEVELOPMENTAL	DEV	Smith-Lemli-Opitz Syndrome	11	11q13.2-q13.5	DHCR7	70823104	70837125		Ciara, E.  et al. 2006	16497572				7-dehydrocholesterol reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001360.1	European;Polish	Poland	CDC GDP info	1717	Hs.503134			Eur J Med Genet    2006	SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations		602858		CDC	2006												
146689		folate homocysteine	METABOLIC	MET		5	5q11.2-q13.2	DHFR	79957800	79986556		Gellekink, H.  et al. 2006	16969375				Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3	Caucasian		CDC GDP info	1719	Hs.83765			Eur J Hum Genet    2006	Molecular genetic analysis of the human dihydrofolate reductase gene		126060		CDC	2006												
146690		breast cancer	CANCER	CAN	Breast Neoplasms	5	5q11.2-q13.2	DHFR	79957800	79986556		Xu, X.  et al. 2007	17413111				Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3			CDC GDP info	1719	Hs.83765			Am J Clin Nutr    2007    85(4)    1098-102	A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users		126060		CDC	2007	The DHFR 19-bp deletion polymorphism affects the transcription of DHFR gene in humans. Multivitamin supplements may place a subgroup of women (ie, those with the -19-bp allele) at elevated risk of developing breast cancer.		vitamins									
146691		colorectal cancer	CANCER	CAN	Colonic Neoplasms	5	5q11.2-q13.2	DHFR	79957800	79986556		Curtin, K.  et al. 2007	17449906				Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3			CDC GDP info	1719	Hs.83765			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		126060		CDC	2007			alcohol folate methionine Vitamin B12									
146693	N	medial temporal lobe atrophy thyroid hormones	NEUROLOGICAL	NEUR	Alzheimer Disease|Thyroid Diseases|Atrophy	1	1p33-p32	DIO1	54132448	54149347		Jan de Jong, F.  et al. 2006	17105838				Deiodinase, iodothyronine, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000792.5			CDC GDP info	1733	Hs.251415			J Clin Endocrinol Metab    2006	The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe		147892		CDC	2006												
146695	N	diabetes, type 2 insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	14	14q24.2-q24.3	DIO2	79733621	79748276		Grarup, N.  et al. 2006	17077128				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			J Clin Endocrinol Metab    2006	Studies of the common DIO2 Thr92Ala polymorphism and metabolic phenotypes in 7,342 Danish whites		601413		CDC	2006	The DIO2 Thr92Ala variant does not confer an increased risk of T2D, obesity, or insulin resistance.											
146696	N	medial temporal lobe atrophy thyroid hormones	NEUROLOGICAL	NEUR	Alzheimer Disease|Thyroid Diseases|Atrophy	14	14q24.2-q24.3	DIO2	79733621	79748276		Jan de Jong, F.  et al. 2006	17105838				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			J Clin Endocrinol Metab    2006	The association of polymorphisms in the type 1 and 2 deiodinase genes with circulating thyroid hormone parameters and atrophy of the medial temporal lobe		601413		CDC	2006												
146697		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	14	14q24.2-q24.3	DIO2	79733621	79748276		Gumieniak, O.  et al. 2007	17224473				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			Hypertension    2007	Ala92 Type 2 Deiodinase Allele Increases Risk for the Development of Hypertension		601413		CDC	2007												
146699	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Insulin Resistance	14	14q24.2-q24.3	DIO2	79733621	79748276		Canani, L. H.  et al. 2007	17389255				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			Hypertension    2007	Type 2 Deiodinase Thr92Ala Polymorphism Is Not Associated With Arterial Hypertension in Type 2 Diabetes Mellitus Patients		601413		CDC	2007												
146700		insulin	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	14	14q24.2-q24.3	DIO2	79733621	79748276		Peeters, R. P.  et al. 2007	17408423				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			Clin Endocrinol (Oxf)    2007	The Asp727Glu polymorphism in the TSH receptor is associated with insulin resistance in healthy elderly men		601413		CDC	2007	In this population of nondiabetic elderly men, serum thyroid parameters and the TSHR-Asp727Glu polymorphism were associated with relative insulin resistance. Our study suggests that genetic variation in TSHR plays a role in insulin resistance and thereby influences glucose metabolism.											
146701		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q42.1	DISC1	229829183	230243641			16524593				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	Scottish		CDC GDP info	27185	Hs.13318			J Psychiatr Res    2006	Case-control association study of Disrupted-in-Schizophrenia-1 (DISC1) gene and schizophrenia in the Chinese population		605210		CDC	2006												
146702	N	bipolar disorder schizoaffective disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Psychotic Disorders|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Hodgkinson, C. A.  et al. 2007	16936715				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	JapaneseAfrican American;Caucasian		CDC GDP info	27185	Hs.13318			Neuropsychopharmacology    2007    32(1)    190-6	The FEZ1 gene shows no association to schizophrenia in Caucasian or African American populations		605210		CDC	2007												
146703		brain morphology depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	1	1q42.1	DISC1	229829183	230243641		Hashimoto, R.  et al. 2006	16959794				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDP info	27185	Hs.13318			Hum Mol Genet    2006	Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology, and ERK signaling		605210		CDC	2006												
146705		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Nicodemus, K. K.  et al. 2006	17006672				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	German		CDC GDP info	27185	Hs.13318			Hum Genet    2006	Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1		605210		CDC	2006												
146706	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Wood, L. S.  et al. 2006	17055463				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDP info	27185	Hs.13318			Biol Psychiatry    2006	Significant Support for DAO as a Schizophrenia Susceptibility Locus		605210		CDC	2006	Our results significantly support DAO as a susceptibility locus for schizophrenia and offer some support for the implication of both RGS4 and DISC1 in the etiology of schizophrenia.											
146707		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Hennah, W.  et al. 2006	17185386				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	Finnish		CDC GDP info	27185	Hs.13318			Hum Mol Genet    2006	Families with the Risk Allele of DISC1 Reveal a Link Between Schizophrenia and Another Component of the Same Molecular Pathway, NDE1		605210		CDC	2006												
146709	Y	Asperger syndrome	PSYCH	PSY		1	1q42.1	DISC1	229829183	230243641		Kilpinen, H.  et al. 2007	17579608				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959	Finnish;Scottish		CDC GDP info	27185	Hs.13318			Mol Psychiatry    2007	Association of DISC1 with autism and Asperger syndrome		605210		CDC	2007												
146710		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	DKK1	53744046	53747423		Morgan, A. R.  et al. 2007	17373700				Dickkopf homolog 1 (Xenopus laevis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR594190			CDC GDP info	22943	Hs.40499			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		605189		CDC	2007												
146711	Y	schizophrenia	PSYCH	PSY		8	8p11.2-p11.1	DKK4	42350742	42353831		Proitsi, P.  et al. 2007	17553464				Dickkopf homolog 4 (Xenopus laevis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CX167283			CDC GDP info	27121	Hs.159311			Biol Psychiatry    2007	Positional Pathway Screen of wnt Signaling Genes in Schizophrenia		605417		CDC	2007	As DKK family members have previously been found to show altered expression in schizophrenia brain and to bind to neuregulin, this finding suggests that DKK4 may play a role in schizophrenia pathogenesis.											
146712	N	schizophrenia	PSYCH	PSY	Schizophrenia	17	17p13.1	DLG4	7033933	7063745			16530958				Discs, large homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001365.1			CDC GDP info	1742	Hs.463928			Neurosci Lett    2006	No genetic association between postsynaptic density-95 gene polymorphisms and schizophrenia		602887		CDC	2006												
146713		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17p13.1	DLG4	7033933	7063745		Tsai, S. J.  et al. 2006	17093888				Discs, large homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001365.1			CDC GDP info	1742	Hs.463928			J Neural Transm    2006	Association study of polymorphisms in post-synaptic density protein 95 (PSD-95) with schizophrenia		602887		CDC	2006	demonstrated that the two informative polymorphisms are in strong linkage disequilibrium with each other.											
146714	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17p13.1	DLG4	7033933	7063745		Lou, X. Y.  et al. 2007	17164261				Discs, large homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001365.1	European		CDC GDP info	1742	Hs.463928			Hum Mol Genet    2007    16(2)    142-53	Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans		602887		CDC	2007												
146716		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Friedrichs, F.  et al. 2006	16446977				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European;German;Quebec		CDC GDP info	9231	Hs.500245			Hum Genet    2006        1-7	Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men		604090		CDC	2006												
146717		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Newman, W. G.  et al. 2006	16450402				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Ashkenazi;Canadian;Jewish		CDC GDP info	9231	Hs.500245			Hum Mutat    2006	DLG5 variants contribute to Crohn disease risk in a Canadian population		604090		CDC	2006												
146718		Crohn's disease inflammatory bowel disease	IMMUNE	IMM		10	10q23	DLG5	79220554	79356354		Medici, V.  et al. 2006	16493449				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European;German;Norwegian;Norwegian		CDC GDP info	9231	Hs.500245			Eur J Hum Genet    2006	Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations		604090		CDC	2006												
146720	N	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354			16534418				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3		Great Britain	CDC GDP info	9231	Hs.500245			Inflamm Bowel Dis    2006    12(3)    178-184	Genetic Variants in TNF-alpha But Not DLG5 Are Associated with Inflammatory Bowel Disease in a Large United Kingdom Cohort		604090		CDC	2006	We have confirmed an association between the TNF-857 promoter polymorphism and IBD in a large independent UK dataset but were unable to replicate an association at the previously reported loci within DLG5. This may reflect heterogeneity between the populations, a smaller effect size than originally predicted, or possibly a false-positive result in the original study. Further fine mapping studies of the TNF promoter region and studies assessing functional consequences of TNF promoter polymorphisms are now required in IBD.											
146721	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	10	10q23	DLG5	79220554	79356354		Ferraris, A.  et al. 2006	16670523				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Italian		CDC GDP info	9231	Hs.500245			Inflamm Bowel Dis    2006    12(5)    355-361	Relationship Between CARD15, SLC22A4/5, and DLG5 Polymorphisms and Early-Onset Inflammatory Bowel Diseases		604090		CDC	2006	Our results demonstrate that in the Italian population, the major CARD15 polymorphisms are associated with susceptibility to early-onset CD and with ileal involvement and suggest a previously unreported association with very early-onset, severe UC.											
146722		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease	10	10q23	DLG5	79220554	79356354		Lakatos, P. L.  et al. 2006	16670524				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European;German		CDC GDP info	9231	Hs.500245			Inflamm Bowel Dis    2006    12(5)    362-368	DLG5 R30Q Is Not Associated With IBD in Hungarian IBD Patients but Predicts Clinical Response to Steroids in Crohn's Disease		604090		CDC	2006	The present data strongly contrast previous data from Germany.											
146723	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Karlsen, T. H.  et al. 2006	17100974				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European;Scandinavian	Scandinavia	CDC GDP info	9231	Hs.500245			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		604090		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
146724	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Biank, V.  et al. 2006	17156146	DLG5 R30Q			Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3			CDC GDP info	9231	Hs.500245	protective effect in CD susceptibility for female children		Am J Gastroenterol    2006	DLG5 R30Q Variant Is a Female-Specific Protective Factor in Pediatric Onset Crohn's Disease		604090		CDC	2006	DLG5 has a gender-specific role in the susceptibility of pediatric CD. Specifically, the significant negative association found between DLG5 R30Q and CD in female children suggests DLG5 may have a protective effect in CD susceptibility for female children.											
146725	Y	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Russell, R. K.  et al. 2007	17307543				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Scottish	Scotland	CDC GDP info	9231	Hs.500245			J Pediatr    2007    150(3)    268-273	The Contribution of the DLG5 113A Variant in Early-Onset Inflammatory Bowel Disease		604090		CDC	2007	DLG5 113A is associated with increased susceptibility to IBD in Scottish children.		socioeconomic status									
146727		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases	10	10q23	DLG5	79220554	79356354		Browning, B. L.  et al. 2007	17455201				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Caucasian;New Zealand		CDC GDP info	9231	Hs.500245			Inflamm Bowel Dis    2007	Association of DLG5 variants with inflammatory bowel disease in the New Zealand caucasian population and meta-analysis of the DLG5 R30Q variant		604090		CDC	2007	The haplotype A tagging SNP was associated with reduced risk of IBD at the 0.											
146728	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		de Ridder, L.  et al. 2007	17476680	rs2165047 in DLG5			Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3			CDC GDP info	9231	Hs.500245			Inflamm Bowel Dis    2007	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease	rs2165047	604090		CDC	2007	Polymorphisms 3020insC in CARD15 and SNP rs3792876 in SLC22A4/5 occurred statistically significantly more often in patients with pediatric-onset CD than in patients with adult-onset CD. Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort.(Inflamm Bowel Dis 2007).											
146729		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Inflammation	10	10q23	DLG5	79220554	79356354		Vogel, U.  et al. 2007	17544013				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3			CDC GDP info	9231	Hs.500245			Mutat Res    2007	Prospective study of interaction between alcohol, NSAID use and polymorphisms in genes involved in the inflammatory response in relation to risk of colorectal cancer		604090		CDC	2007			alcohol nonsteroidal anti-inflammatory (NSAID)									
146730			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	14	14q32	DLK1	100262981	100271229		Lee, J. K.  et al. 2003	12768436				Delta-like 1 homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR610808	Japanese;Caucasian;Korean		CDC GDP info	8788	Hs.533717			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		176290		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
146732		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression	10	10q25.3-q26.1	DMBT1	124310170	124393242		Lei, H.  et al. 2007	17066405			promoter	Deleted in malignant brain tumors 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007329		Sweden	CDC GDP info	1755	Hs.279611			Int J Cancer    2007    120(2)    447-9	Single nucleotide polymorphisms in the DMBT1 promoter and the progression of breast cancer		601969		CDC	2007												
146733		muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophy, Duchenne	X	Xp21.2	DMD	31047265	33267647		Basak, J.  et al. 2006	16936400				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2	Indian	India	CDC GDP info	1756	Hs.495912			Neurol India    2006    54(3)    310-1	Analysis of dystrophin gene deletions by multiplex PCR in eastern India		300377		CDC	2006												
146734	N	muscular dystrophy	DEVELOPMENTAL	DEV	Muscular Dystrophy, Duchenne	X	Xp21.2	DMD	31047265	33267647		Nishiyama, A.  et al. 2007	17428346				Dystrophin (muscular dystrophy, Duchenne and Becker types)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000109.2			CDC GDP info	1756	Hs.495912			BMC Med Genet    2007    8(1)    19	Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy		300377		CDC	2007	Our results indicate that heterozygous missense mutations including two novel mutations did not produce an apparent increase in muscle strength in Japanese DMD cases, even in a patient carrying two missense mutations.											
146736		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q22.1	DNAJC12	69226432	69267943		Morgan, A. R.  et al. 2007	17373700				DnaJ (Hsp40) homolog, subfamily C, member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021800			CDC GDP info	56521	Hs.260720			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
146738	Y	myocardial infarct	CARDIOVASCULAR	CARD	Angina Pectoris|Myocardial Infarction|Genetic Predisposition to Disease	16	16p13.3	DNASE1	3642940	3648097		Kumamoto, T.  et al. 2006	16877481	Gln222Arg			Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3			CDC GDP info	1773	Hs.629638			Eur Heart J    2006	Association of Gln222Arg polymorphism in the deoxyribonuclease I (DNase I) gene with myocardial infarction in Japanese patients		125505		CDC	2006	Our data demonstrate that Gln222Arg polymorphism in the DNase I gene is associated with MI in the Japanese patients.											
146739	P		NORMALVARIATION	NV		16	16p13.3	DNASE1	3642940	3648097		Fujihara, J.  et al. 2006	17032129				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Japanese;Korean;Turkish;Asian		CDC GDP info	1773	Hs.629638			Clin Chem Lab Med    2006    44(10)    1188-91	Frequency of a single nucleotide (A2317G) and 56-bp variable number of tandem repeat polymorphisms within the deoxyribonuclease I gene in five ethnic populations		125505		CDC	2006	This study is the first to demonstrate the simultaneous genotyping of DNASE1 and HumDN1 polymorphisms and reveal the existence of a certain genetic heterogeneity in the worldwide distribution of these two polymorphisms.											
146741		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	16	16p13.3	DNASE1	3642940	3648097		Bodano, A.  et al. 2007	17360785				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3			CDC GDP info	1773	Hs.629638			Ann Rheum Dis    2007    66(4)    560-1	Study of DNASE I gene polymorphisms in systemic lupus erythematosus susceptibility		125505		CDC	2007												
146742	P		NORMALVARIATION	NV		16	16p13.3	DNASE1	3642940	3648097		Takeshita, H.  et al. 2007	17405189				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3	Japanese;Caucasian		CDC GDP info	1773	Hs.629638			Cell Biochem Funct    2007	Extremely high prevalence of DNASE1*1 allele in African populations		125505		CDC	2007												
146743		glucose lipids	METABOLIC	MET		16	16p13.3	DNASE1	3642940	3648097		Ni, Y.  et al. 2007	17588132				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3			CDC GDP info	1773	Hs.629638			Mol Biol Rep    2007	Deoxyribonuclease I gene polymorphism in Han Chinese population		125505		CDC	2007	obtained in this study could be used for anthropological investigation, probing into relations between DNase I gene and diseases.											
146744	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24.2	DNMBP	101626897	101759666		Kuwano, R.  et al. 2006	16740596				Dynamin binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL833283			CDC GDP info	23268	Hs.500771			Hum Mol Genet    2006    15(13)    2170-82	Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease				CDC	2006												
146745	N	Alzheimer's disease	NEUROLOGICAL	NEUR		10	10q24.2	DNMBP	101626897	101759666		Minster, R. L.  et al. 2007	17442457				Dynamin binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL833283	Japanese;Caucasian		CDC GDP info	23268	Hs.500771			Neurobiol Aging    2007	No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer's disease				CDC	2007												
146746		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823			16328059				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDP info	1789	Hs.251673			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		602900		CDC	2006												
146747		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823		Cebrian, A.  et al. 2006	16501248				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDP info	1789	Hs.251673			Carcinogenesis    2006	Genetic variants in epigenetic genes and breast cancer risk		602900		CDC	2006												
146748	N	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	20	20q11.2	DNMT3B	30813851	30860823		Chang, K. P.  et al. 2006	16920385			promoter	DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3			CDC GDP info	1789	Hs.251673			Oral Oncol    2006	Promoter polymorphisms of DNMT3B and the risk of head and neck squamous cell carcinoma in Taiwan		602900		CDC	2006	the relative distribution of three DNMT3B SNPs among a Taiwanese population can not be used as a stratification marker to predict either an individual\s susceptibility to HNSCC and/or the likelihood of cervical metastasis of HNSCC.											
146750		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colonic Neoplasms	20	20q11.2	DNMT3B	30813851	30860823		Hong, Y. S.  et al. 2007	17318376				DNA (cytosine-5-)-methyltransferase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006892.3	Korean		CDC GDP info	1789	Hs.251673			Biochem Genet    2007	DNMT3b 39179GT Polymorphism and the Risk of Adenocarcinoma of the Colon in Koreans		602900		CDC	2007												
146751			NORMALVARIATION	NV		1	1p22	DPYD	97315887	98159203		Bosch, T. M.  et al. 2006	16771603				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Caucasian		CDC GDP info	1806	Hs.335034			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		274270		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
146752		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	1	1p22	DPYD	97315887	98159203		Largillier, R.  et al. 2006	17000685				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Clin Cancer Res    2006    12(18)    5496-502	Pharmacogenetics of capecitabine in advanced breast cancer patients		274270		CDC	2006	The present data suggest that 3RG3RG breast cancer patients are not good candidates for capecitabine therapy.		capecitabine									
146754		5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	1	1p22	DPYD	97315887	98159203		Salgado, J.  et al. 2007	17203168				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Oncol Rep    2007    17(2)    325-8	Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer		274270		CDC	2007												
146755		Dihydropyrimidine dehydrogenase activity	PHARMACOGENOMIC	PHARM		1	1p22	DPYD	97315887	98159203		Magne, N.  et al. 2007	17335544				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Caucasian		CDC GDP info	1806	Hs.335034			Br J Clin Pharmacol    2007	Dihydropyrimidine dehydrogenase activity and the IVS14+1G>A mutation in patients developing 5FU-related toxicity		274270		CDC	2007	s The IVS14+1G>A mutation may not help prevent toxicity and patients with normal DPD activity may develop life-threatening 5FU toxicity.											
146756		breast cancer colorectal cancer esophageal cancer lung cancer lymphoma stomach cancer	CANCER	CAN	Neoplasms	1	1p22	DPYD	97315887	98159203		Tanaka, D.  et al. 2005	17375478				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Nagoya J Med Sci    2005    67(3-4)    117-24	Polymorphism of dihydropyrimidine dehydrogenase (DPYD) Cys29Arg and risk of six malignancies in Japanese		274270		CDC	2005												
146757		5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM		1	1p22	DPYD	97315887	98159203		Bosch, T. M.  et al. 2007	17397246				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Mol Diagn Ther    2007    11(2)    105-8	Rapid Detection of the DPYD IVS14+1G>A Mutation for Screening Patients to Prevent Fluorouracil-Related Toxicity		274270		CDC	2007	This new real-time PCR assay with a high throughput is particularly suitable for large-scale screening for the IVS14+1G>A mutation in patients selected for treatment with fluoropyrimidines in order to prevent severe FU-related toxicity.											
146758		5-fluorouracil toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	1	1p22	DPYD	97315887	98159203		Cho, H. J.  et al. 2007	17417073				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2	Korean		CDC GDP info	1806	Hs.335034			Ther Drug Monit    2007    29(2)    190-196	Thymidylate Synthase (TYMS) and Dihydropyrimidine Dehydrogenase (DPYD) Polymorphisms in the Korean Population for Prediction of 5-Fluorouracil-Associated Toxicity		274270		CDC	2007												
146760		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5q35.1	DRD1	174800280	174803769		Comings, D. E.  et al. 2000	11140838				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126449		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146761	Y	bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	5	5q35.1	DRD1	174800280	174803769		Dmitrzak-Weglarz, M.  et al. 2006	16397404	DRD1  -48A/G			Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Polish		CDC GDP info	1812	Hs.2624			Neuropsychobiology    2006    53(1)    46-50	Dopamine receptor D1 gene -48A/G polymorphism is associated with bipolar illness but not with schizophrenia in a Polish population		126449		CDC	2006												
146763	Y	methamphetamine abuse psychoses	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	5	5q35.1	DRD1	174800280	174803769		Liu, H. C.  et al. 2006	16594948				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			Psychiatry Clin Neurosci    2006    60(2)    226-31	Association between dopamine receptor D1 A-48G polymorphism and methamphetamine abuse		126449		CDC	2006												
146764		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5q35.1	DRD1	174800280	174803769		Juyal, R. C.  et al. 2006	16816977				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Indian		CDC GDP info	1812	Hs.2624			Neurogenetics    2006	Genetic susceptibility to Parkinson's disease among South and North Indians		126449		CDC	2006												
146765	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		5	5q35.1	DRD1	174800280	174803769		Lu, Y.  et al. 2006	16876683				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			Am J Hypertens    2006    19(8)    832-6	Effects of Dopamine Receptor Type 1 and Gs Protein alpha Subunit Gene Polymorphisms on Blood Pressure at Rest and in Response to Stress		126449		CDC	2006	Our findings suggest that DRD1 and GNAS loci contribute to BP regulation at rest, and in particular, in response to behavioral stress.											
146766		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	5	5q35.1	DRD1	174800280	174803769		Del Zompo, M.  et al. 2006	17066478				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Sardinian		CDC GDP info	1812	Hs.2624			Am J Med Genet B Neuropsychiatr Genet    2006	Haplotype association study between DRD1 gene and bipolar type I affective disorder in two samples from Canada and Sardinia		126449		CDC	2006												
146767		schizophrenia	PHARMACOGENOMIC	PHARM		5	5q35.1	DRD1	174800280	174803769		Hwang, R.  et al. 2006	17092969				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	African American;Caucasian		CDC GDP info	1812	Hs.2624			J Psychopharmacol    2006	Association study of four dopamine D1 receptor gene polymorphisms and clozapine treatment response		126449		CDC	2006			clozapine									
146768	Y	memory	PSYCH	PSY	Dyslexia|Attention Deficit Disorder with Hyperactivity	5	5q35.1	DRD1	174800280	174803769		Luca, P.  et al. 2007	17310237				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			Mol Psychiatry    2007	Association of the dopamine receptor D1 gene, DRD1, with inattention symptoms in families selected for reading problems		126449		CDC	2007												
146769		impulse control disorder	PSYCH	PSY	Substance-Related Disorders|Impulse Control Disorders	5	5q35.1	DRD1	174800280	174803769		Sabbatini da Silva Lobo, D.  et al. 2007	17394052				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			J Gambl Stud    2007	Dopamine Genes and Pathological Gambling in Discordant Sib-Pairs		126449		CDC	2007												
146770		schizoaffective disorder schizophrenia tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	5	5q35.1	DRD1	174800280	174803769		Dolzan, V.  et al. 2007	17455212				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3			CDC GDP info	1812	Hs.2624			Am J Med Genet B Neuropsychiatr Genet    2007	Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment		126449		CDC	2007												
146771	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q35.1	DRD1	174800280	174803769		Kim, D. J.  et al. 2007	17466946			5' untranslated region	Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Korean	Korea	CDC GDP info	1812	Hs.2624			Biochem Biophys Res Commun    2007	5' UTR polymorphism of dopamine receptor D1 (DRD1) associated with severity and temperament of alcoholism		126449		CDC	2007												
146772		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Comings, D. E.  et al. 2000	11140838				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126450		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146773	P		CANCER	CAN	Neoplasms	11	11q23	DRD2	112785526	112851091		Yoshimura, K.  et al. 2003	14634838				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		126450		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146774	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	11	11q23	DRD2	112785526	112851091			16402081				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Pharmacogenomics J    2006	Interaction between variation in the D2 dopamine receptor (DRD2) and the neuronal calcium sensor-1 (FREQ) genes in predicting response to nicotine replacement therapy for tobacco dependence		126450		CDC	2006			nicotine replacement therapy									
146777		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	11	11q23	DRD2	112785526	112851091			16526040				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Am J Med Genet B Neuropsychiatr Genet    2006	The effect of dopamine D2, D5 receptor and transporter (SLC6A3) polymorphisms on the cue-elicited heroin craving in Chinese		126450		CDC	2006												
146778	N	smoking behavior	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Timberlake, D. S.  et al. 2006	16569110				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Health Psychol    2006    25(2)    190-7	An association between the DAT1 polymorphism and smoking behavior in young adults from the national longitudinal study of adolescent health		126450		CDC	2006												
146779		alcoholism attention deficit hyperactivity disorder	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091		Kim, J. W.  et al. 2006	16679343				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Korean		CDC GDP info	1813	Hs.73893			Alcohol Alcohol    2006	CLINICAL AND GENETIC CHARACTERISTICS OF KOREAN MALE ALCOHOLICS WITH AND WITHOUT ATTENTION DEFICIT HYPERACTIVITY DISORDER		126450		CDC	2006	The results of this study suggest that the comorbidity of alcohol dependence and ADHD in this Korean sample forms a distinct clinical phenotype that shows an increased severity of alcohol-related symptoms and behavioural/emotional problems and that ADHD is associated with$$$ an increased risk for the early onset of alcohol dependence in Korean male alcoholics.											
146780	N	dopamine receptor sensitivity	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Wiesbeck, G. A.  et al. 2006	16759339				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian		CDC GDP info	1813	Hs.73893			Addict Biol    2006    11(1)    72-5	No association of dopamine receptor sensitivity in vivo with genetic predisposition for alcoholism and DRD2/DRD3 gene polymorphisms in alcohol dependence		126450		CDC	2006												
146781		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Postmortem Changes	11	11q23	DRD2	112785526	112851091		Buckley, S. T.  et al. 2006	16766085				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian		CDC GDP info	1813	Hs.73893			Neurochem Int    2006	GABA(A) receptor beta isoform protein expression in human alcoholic brain		126450		CDC	2006												
146782		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Juyal, R. C.  et al. 2006	16816977				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Indian		CDC GDP info	1813	Hs.73893			Neurogenetics    2006	Genetic susceptibility to Parkinson's disease among South and North Indians		126450		CDC	2006												
146785	N	personality traits	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Hibino, H.  et al. 2006	17018139				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Behav Brain Funct    2006    2(1)    32	No association of DRD2, DRD3, and tyrosine hydroxylase gene polymorphisms with personality traits in the Japanese population		126450		CDC	2006	The present study did not provide evidence for the association between these dopamine-related genes and personality traits in the Japanese population.											
146786			NORMALVARIATION	NV	Mental Disorders	11	11q23	DRD2	112785526	112851091		Marignac, V. L.  et al. 2006	17039480				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	European;Indian;Native American		CDC GDP info	1813	Hs.73893			Am J Hum Biol    2006    18(6)    822-828	Prevalence of dopamine and 5HT2C receptor polymorphisms in Amerindians and in an urban population from Argentina		126450		CDC	2006												
146787		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11q23	DRD2	112785526	112851091		Qian, Q.  et al. 2006	17044099				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		China	CDC GDP info	1813	Hs.73893			Am J Med Genet B Neuropsychiatr Genet    2006	Evaluation of potential gene-gene interactions for attention deficit hyperactivity disorder in the Han Chinese population		126450		CDC	2006												
146788		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Samochowiec, J.  et al. 2006	17079080				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Polish		CDC GDP info	1813	Hs.73893			Neurosci Lett    2006	Family-based and case-control study of DRD2, DAT, 5HTT, COMT genes polymorphisms in alcohol dependence		126450		CDC	2006												
146790	N	schizophrenia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Gunes, A.  et al. 2006	17102980				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Psychopharmacology (Berl)    2006	Serotonin and dopamine receptor gene polymorphisms and the risk of extrapyramidal side effects in perphenazine-treated schizophrenic patients		126450		CDC	2006	An association was observed between polymorphisms in HTR2A and HTR2C genes and occurrence of acute EPS in schizophrenic patients treated with perphenazine monotherapy.		perphenazine									
146791		delinquent behavior violent behavior	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Guo, G.  et al. 2006	17120049				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Hum Genet    2006	Contributions of the DAT1 and DRD2 genes to serious and violent delinquency among adolescents and young adults		126450		CDC	2006												
146792	N	weight gain	PHARMACOGENOMIC	PHARM	Obesity|Genetic Predisposition to Disease|Weight Gain	11	11q23	DRD2	112785526	112851091		Hu, J.  et al. 2006	17135598				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Obesity (Silver Spring)    2006    14(11)    1863-7	No evidence for a major role of polymorphisms during bupropion treatment		126450		CDC	2006	our results do not support a major role for these five candidate genes in weight gain after smoking cessation.		bupropion									
146794		personality traits	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Urata, T.  et al. 2006	17208375				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Neurosci Lett    2006	Gene-gene interaction analysis of personality traits in a Japanese population using an electrochemical DNA array chip analysis		126450		CDC	2006												
146795	Y	impulsivity	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Eisenberg, D. T.  et al. 2007	17214892				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Behav Brain Funct    2007    3(1)    2	Examining impulsivity as an endophenotype using a behavioral approach		126450		CDC	2007	These findings suggest a meaningful interaction between the DRD2 TaqI A and DRD4 VNTR polymorphisms in the expression of impulsivity and provide initial support for the utility of using behavioral measures for clarifying genetic influences on impulsivity.											
146796		dystonia, acute parkinsonism tardive dyskinesia	PHARMACOGENOMIC	PHARM	Basal Ganglia Diseases|Schizophrenia	11	11q23	DRD2	112785526	112851091		Guzey, C.  et al. 2007	17225991				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Eur J Clin Pharmacol    2007	Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia		126450		CDC	2007	Presence of the Taq1A A1 allele of the DRD2 and the 9 repeat allele of the DAT1 VNTR polymorphisms might be risk factors for EPS caused by antipsychotic drugs.		antipsychotic drug									
146797		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	11	11q23	DRD2	112785526	112851091		Hall, H.  et al. 2007	17366345				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		126450		CDC	2007												
146798		impulse control disorder	PSYCH	PSY	Substance-Related Disorders|Impulse Control Disorders	11	11q23	DRD2	112785526	112851091		Sabbatini da Silva Lobo, D.  et al. 2007	17394052				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			J Gambl Stud    2007	Dopamine Genes and Pathological Gambling in Discordant Sib-Pairs		126450		CDC	2007												
146800	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	DRD2	112785526	112851091		Parsons, M. J.  et al. 2007	17417059				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Psychiatr Genet    2007    17(3)    159-63	A dopamine D2 receptor gene-related polymorphism is associated with schizophrenia in a Spanish population isolate		126450		CDC	2007												
146801		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Guo, G.  et al. 2007	17440951				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Am J Med Genet B Neuropsychiatr Genet    2007	Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood		126450		CDC	2007												
146802		antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	11	11q23	DRD2	112785526	112851091		Hoenicka, J.  et al. 2007	17449448				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Spain	CDC GDP info	1813	Hs.73893			Neurotox Res    2007    11(1)    51-60	Association in alcoholic patients between psychopathic traits and the additive effect of allelic forms of the CNR1 and FAAH endocannabinoid genes, and the 3' region of the DRD2 gene		126450		CDC	2007												
146805	N	smoking behavior	PHARMACOGENOMIC	PHARM		11	11q23	DRD2	112785526	112851091		Ton, T. G.  et al. 2007	17466074				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		126450		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
146806		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Anxiety Disorders|Depressive Disorder, Major	11	11q23	DRD2	112785526	112851091		Huang, S. Y.  et al. 2007	17476365				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			J Psychiatry Neurosci    2007    32(3)    185-192	Monoamine oxidase-A polymorphisms might modify the association between the dopamine D(2)receptor gene and alcohol dependence		126450		CDC	2007	The genetic variant of the DRD2 gene was only associated with the ANX/DEP ALC phenotype, and the genetic variant of the MAOA gene was associated with pure ALC. Subjects carrying the MAOA 3-repeat allele and genotype A1/A1 of the DRD2 were 3.48 times (95% confidence interval = 1.47-8.25) more likely to be ANX/DEP ALC than the subjects carrying the MAOA 3-repe											
146807		smoking behavior	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Swan, G. E.  et al. 2007	17500623				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Health Psychol    2007    26(3)    361-8	Joint effect of dopaminergic genes on likelihood of smoking following treatment with bupropion SR		126450		CDC	2007	Although these results are suggestive, a more compelling test is needed of the hypothesis that dopaminergic gene interaction underlies, in part, the likelihood of smoking following treatment with bupropion SR.											
146808		alcohol abuse smoking behavior	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders	11	11q23	DRD2	112785526	112851091		Preuss, U. W.  et al. 2007	17526637				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Alcohol Alcohol    2007    42(3)    258-266	D2 dopamine receptor gene haplotypes and their influence on alcohol and tobacco consumption magnitude in alcohol-dependent individuals		126450		CDC	2007												
146810		migraine	PHARMACOGENOMIC	PHARM	Migraine without Aura	11	11q23	DRD2	112785526	112851091		Asuni, C.  et al. 2007	17563839				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			J Headache Pain    2007	Association study between clinical response to rizatriptan and some candidate genes		126450		CDC	2007			rizatriptan									
146811	Y	antisocial behavior conduct disorder	PSYCH	PSY		11	11q23	DRD2	112785526	112851091		Beaver, K. M.  et al. 2007	17587443				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Behav Brain Funct    2007    3(1)    30	A gene x gene interaction between DRD2 and DRD4 is associated with conduct disorder and antisocial behavior in males		126450		CDC	2007	The results suggest that a gene x gene interaction between DRD2 and DRD4 is associated with the development of conduct disorder and adult antisocial behavior in males.											
146812		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589		Comings, D. E.  et al. 2000	11140838				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126451		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146814		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589			16424823				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Indian		CDC GDP info	1814	Hs.121478			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		126451		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
146815	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Psychotic Disorders	3	3q13.3	DRD3	115330246	115380589		Bakker, P. R.  et al. 2006	16513329				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Schizophr Res    2006	Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD3 gene		126451		CDC	2006	TD may be associated with functional variation in the DRD3 allele.											
146816	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major|Compulsive Personality Disorder	3	3q13.3	DRD3	115330246	115380589		Light, K. J.  et al. 2006	16583407				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Am J Med Genet B Neuropsychiatr Genet    2006	Preliminary evidence for an association between a dopamine D3 receptor gene variant and obsessive-compulsive personality disorder in patients with major depression		126451		CDC	2006	DRD3 may contribute to the development of OCPD.											
146817	N	dopamine receptor sensitivity	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Wiesbeck, G. A.  et al. 2006	16759339				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Caucasian		CDC GDP info	1814	Hs.121478			Addict Biol    2006    11(1)    72-5	No association of dopamine receptor sensitivity in vivo with genetic predisposition for alcoholism and DRD2/DRD3 gene polymorphisms in alcohol dependence		126451		CDC	2006												
146818	Y	essential tremor	NEUROLOGICAL	NEUR	Essential Tremor|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Jeanneteau, F.  et al. 2006	16809426				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	French	France	CDC GDP info	1814	Hs.121478			Proc Natl Acad Sci U S A    2006	A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor		126451		CDC	2006												
146820		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Zai, C. C.  et al. 2006	16959057				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Caucasian;European		CDC GDP info	1814	Hs.121478			Int J Neuropsychopharmacol    2006        1-13	Association study of tardive dyskinesia and twelve DRD2 polymorphisms in schizophrenia patients		126451		CDC	2006												
146822	N	personality traits	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589		Hibino, H.  et al. 2006	17018139				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Behav Brain Funct    2006    2(1)    32	No association of DRD2, DRD3, and tyrosine hydroxylase gene polymorphisms with personality traits in the Japanese population		126451		CDC	2006	The present study did not provide evidence for the association between these dopamine-related genes and personality traits in the Japanese population.											
146823			NORMALVARIATION	NV	Mental Disorders	3	3q13.3	DRD3	115330246	115380589		Marignac, V. L.  et al. 2006	17039480				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	European;Indian;Native American		CDC GDP info	1814	Hs.121478			Am J Hum Biol    2006    18(6)    822-828	Prevalence of dopamine and 5HT2C receptor polymorphisms in Amerindians and in an urban population from Argentina		126451		CDC	2006												
146824	N	schizophrenia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Gunes, A.  et al. 2006	17102980				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Psychopharmacology (Berl)    2006	Serotonin and dopamine receptor gene polymorphisms and the risk of extrapyramidal side effects in perphenazine-treated schizophrenic patients		126451		CDC	2006	An association was observed between polymorphisms in HTR2A and HTR2C genes and occurrence of acute EPS in schizophrenic patients treated with perphenazine monotherapy.		perphenazine									
146825		attention deficit hyperactivity disorder schizotypal personality traits	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Schizotypal Personality Disorder	3	3q13.3	DRD3	115330246	115380589		Ettinger, U.  et al. 2006	17109713				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Caucasian		CDC GDP info	1814	Hs.121478			Psychiatry Clin Neurosci    2006    60(6)    764-7	Schizotypy, attention deficit hyperactivity disorder, and dopamine genes		126451		CDC	2006												
146827	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Lorenzo, C. V.  et al. 2006	17171662	DRD3  Ser9Gly			Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Am J Med Genet B Neuropsychiatr Genet    2006	No association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and schizophrenia in a Spanish sample		126451		CDC	2006												
146828		personality traits	PSYCH	PSY		3	3q13.3	DRD3	115330246	115380589		Urata, T.  et al. 2006	17208375				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Neurosci Lett    2006	Gene-gene interaction analysis of personality traits in a Japanese population using an electrochemical DNA array chip analysis		126451		CDC	2006												
146829		dystonia, acute parkinsonism tardive dyskinesia	PHARMACOGENOMIC	PHARM	Basal Ganglia Diseases|Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Guzey, C.  et al. 2007	17225991				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Eur J Clin Pharmacol    2007	Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia		126451		CDC	2007	Presence of the Taq1A A1 allele of the DRD2 and the 9 repeat allele of the DAT1 VNTR polymorphisms might be risk factors for EPS caused by antipsychotic drugs.		antipsychotic drug									
146830		smoking behavior	CHEMDEPENDENCY	CHEM	Substance Withdrawal Syndrome|Tobacco Use Disorder	3	3q13.3	DRD3	115330246	115380589		Vandenbergh, D. J.  et al. 2007	17407504				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Addict Biol    2007    12(1)    106-16	Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors		126451		CDC	2007												
146832	N	smoking behavior	PHARMACOGENOMIC	PHARM		3	3q13.3	DRD3	115330246	115380589		Ton, T. G.  et al. 2007	17466074				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		126451		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
146833		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Comings, D. E.  et al. 2000	11140838				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126452		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146835		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703			16424823				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Indian		CDC GDP info	1815	Hs.99922			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		126452		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
146836		body mass	METABOLIC	MET		11	11p15.5	DRD4	627304	630703			16429431				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Hum Mutat    2006	DRD4 gene variant associated with body mass		126452		CDC	2006												
146837	Y	preeclampsia	REPRODUCTION	REP		11	11p15.5	DRD4	627304	630703		Korobochka, R.  et al. 2006	16455620			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Mol Hum Reprod    2006	Association between a functional dopamine D4 receptor promoter region polymorphism (-C521T) and pre-eclampsia		126452		CDC	2006												
146838	Y	neuroticism	PSYCH	PSY	Genetic Predisposition to Disease|Neurotic Disorders	11	11p15.5	DRD4	627304	630703		Tochigi, M.  et al. 2006	16472910				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Neurosci Lett    2006	Association between dopamine D4 receptor (DRD4) exon III polymorphism and Neuroticism in the Japanese population		126452		CDC	2006												
146839		behavior problems	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Birkas, E.  et al. 2005	16493876				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Neuropsychopharmacol Hung    2005    7(3)    125-31	Effects of the D4 dopamine receptor gene variation on behavior problems at 6 years of age		126452		CDC	2005												
146840		smoking behavior weight gain	CHEMDEPENDENCY	CHEM	Weight Gain	11	11p15.5	DRD4	627304	630703			16526060				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	Smoking cessation, weight gain, and DRD4 -521 genotype		126452		CDC	2006												
146841		attention deficit hyperactivity disorder	PSYCH	PSY	Diseases in Twins|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Mill, J.  et al. 2006	16585476				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	New Zealand		CDC GDP info	1815	Hs.99922			Arch Gen Psychiatry    2006    63(4)    462-9	Prediction of heterogeneity in intelligence and adult prognosis by genetic polymorphisms in the dopamine system among children with attention-deficit/hyperactivity disorder		126452		CDC	2006	The findings indicate that genetic information of this nature may prove useful for etiology-based psychiatric nosologies.											
146842		sexual behavior	PSYCH	PSY	Sexual Dysfunction, Physiological	11	11p15.5	DRD4	627304	630703		Ben Zion, I. Z.  et al. 2006	16619053				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Mol Psychiatry    2006	Polymorphisms in the dopamine D4 receptor gene (DRD4) contribute to individual differences in human sexual behavior		126452		CDC	2006												
146844	Y	P300 amplitudes	NEUROLOGICAL	NEUR		11	11p15.5	DRD4	627304	630703		Vogel, C. I.  et al. 2006	16736234				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Neural Transm    2006	Association of DRD4 exon III polymorphism with auditory P300 amplitude in 8-year-old children		126452		CDC	2006	This finding provides further evidence supporting a role of P300 amplitude reduction as an endophenotype for disinhibited psychopathology.											
146845		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Barkley, R. A.  et al. 2006	16741944				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	An examination of the behavioral and neuropsychological correlates of three ADHD candidate gene polymorphisms (DRD4 7,+ DBH TaqI A2, and DAT1 40 bp VNTR) in hyperactive and normal children followed to adulthood		126452		CDC	2006												
146846		bipolar disorder depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	11	11p15.5	DRD4	627304	630703		Mandelli, L.  et al. 2006	16756688				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Italian		CDC GDP info	1815	Hs.99922			Int J Neuropsychopharmacol    2006        1-11	Interaction between serotonin transporter gene, catechol- O -methyltransferase gene and stressful life events in mood disorders		126452		CDC	2006												
146848		aggressive behavior oppositional disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Bakermans-Kranenburg, M. J.  et al. 2006	16770765				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Dev Psychobiol    2006    48(5)    406-409	Gene-environment interaction of the dopamine D4 receptor (DRD4) and observed maternal insensitivity predicting externalizing behavior in preschoolers		126452		CDC	2006			maternal insensitivity									
146849	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Li, D.  et al. 2006	16774975				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	European;Asian		CDC GDP info	1815	Hs.99922			Hum Mol Genet    2006	Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD)		126452		CDC	2006	there is a statistically significant association between ADHD and dopamine system genes, especially DRD4 and DRD5.											
146851	Y	novelty seeking	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Birkas, E.  et al. 2006	16815339				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Brain Res    2006	Association between dopamine D4 receptor (DRD4) gene polymorphisms and novelty-elicited auditory event-related potentials in preschool children		126452		CDC	2006												
146852		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Juyal, R. C.  et al. 2006	16816977				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Indian		CDC GDP info	1815	Hs.99922			Neurogenetics    2006	Genetic susceptibility to Parkinson's disease among South and North Indians		126452		CDC	2006												
146854		depressive disorder, major	PHARMACOGENOMIC	PHARM		11	11p15.5	DRD4	627304	630703		Garriock, H. A.  et al. 2006	16822313				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Behav Brain Funct    2006    2(1)    24	Number of risk genotypes is a risk factor for major depressive disorder		126452		CDC	2006	An association between several monoamine-related genes and Major Depressive Disorder is supported. The data suggest that the two depressive phenotypes are genetically different, inferring that the genetic basis for the capacity to respond to standard antidepressant treatment, and the genetic susceptibility to Major Depressive Disorder may be independent. In		antidepressants									
146855	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Lung, F. W.  et al. 2006	16829780				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Psychiatr Genet    2006    16(4)    139-143	Dopamine D4 receptor gene and the -521C>T polymorphism of the upstream region of the dopamine D4 receptor gene in schizophrenia		126452		CDC	2006	This study provides preliminary and unconfirmed evidence for the involvement of the DRD4 repeat VNTR in the pathogenesis of schizophrenia.											
146856		academic achievement personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Ham, B. J.  et al. 2006	16874007				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Neuropsychobiology    2006    53(4)    203-209	Personality, Dopamine Receptor D4 Exon III Polymorphisms, and Academic Achievement in Medical Students		126452		CDC	2006												
146857	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Mitsuyasu, H.  et al. 2006	16887146				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Psychiatr Res    2006	Genetic structure of the dopamine receptor D4 gene (DRD4) and lack of association with schizophrenia in Japanese patients		126452		CDC	2006												
146858	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Brookes, K. et al  et al. 2006	16894395				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		126452		CDC	2006												
146859		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Cheuk, D. K.  et al. 2006	16917940				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	Exon 3 polymorphisms of dopamine D4 receptor (DRD4) gene and attention deficit hyperactivity disorder in Chinese children		126452		CDC	2006												
146860		schizophrenia	PSYCH	PSY	Cognition Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703			16921721				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(7)    57-63	Dopamine system genes interaction and neurocognitive traits in patients with schizophrenia, their relatives and healthy controls from general population		126452		CDC	2006												
146861		headache	NEUROLOGICAL	NEUR	Headache|Substance-Related Disorders|Chronic Disease|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Cevoli, S.  et al. 2006	16930369				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Eur J Neurol    2006    13(9)    1009-13	A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse		126452		CDC	2006												
146862		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Laucht, M.  et al. 2006	16945348				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2006	Novelty Seeking Involved in Mediating the Association Between the Dopamine D4 Receptor Gene Exon III Polymorphism and Heavy Drinking in Male Adolescents		126452		CDC	2006	These findings extend previous work highlighting the significance of personality traits as a mediating factor between genetic susceptibility and substance use during the period of early experimental use.											
146865		personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703			17025189				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Russian		CDC GDP info	1815	Hs.99922			Zh Vyssh Nerv Deiat Im I P Pavlova    2006    56(4)    457-63	Dopamine system genes and personality traits of extraversion and novelty seeking		126452		CDC	2006												
146866			NORMALVARIATION	NV	Mental Disorders	11	11p15.5	DRD4	627304	630703		Marignac, V. L.  et al. 2006	17039480				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	European;Indian;Native American		CDC GDP info	1815	Hs.99922			Am J Hum Biol    2006    18(6)    822-828	Prevalence of dopamine and 5HT2C receptor polymorphisms in Amerindians and in an urban population from Argentina		126452		CDC	2006												
146867		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Qian, Q.  et al. 2006	17044099				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2		China	CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	Evaluation of potential gene-gene interactions for attention deficit hyperactivity disorder in the Han Chinese population		126452		CDC	2006												
146868	Y	tic disorder, chronic	PSYCH	PSY	Tic Disorders|Chronic Disease	11	11p15.5	DRD4	627304	630703		Lu, Y.  et al. 2006	17052389	DRD4-616C/G		promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Zhongguo Dang Dai Er Ke Za Zhi    2006    8(5)    357-60	Association between the polymorphism in the promoter region of dopamine D4 receptor gene and chronic tic disorder		126452		CDC	2006	There is an association between the DRD4-616C/G polymorphism and chronic tic disorder. The individuals with haplotype LCT (1240L/S, 616C/G, 521C/T) are susceptible to this disorder.											
146869	Y	attention deficit hyperactivity disorder	PHARMACOGENOMIC	PHARM	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Cheon, K. A.  et al. 2006	17077808				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		CDC GDP info	1815	Hs.99922			Neuropsychopharmacology    2006	Association of 4-Repeat Allele of the Dopamine D4 Receptor Gene Exon III Polymorphism and Response to Methylphenidate Treatment in Korean ADHD Children		126452		CDC	2006			methylphenidate									
146871		attention deficit hyperactivity disorder schizotypal personality traits	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Schizotypal Personality Disorder	11	11p15.5	DRD4	627304	630703		Ettinger, U.  et al. 2006	17109713				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian		CDC GDP info	1815	Hs.99922			Psychiatry Clin Neurosci    2006    60(6)    764-7	Schizotypy, attention deficit hyperactivity disorder, and dopamine genes		126452		CDC	2006												
146872	N	intelligence	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Genro, J. P.  et al. 2006	17130883				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Mol Psychiatry    2006    11(12)    1066-7	No association between dopaminergic polymorphisms and intelligence variability in attention-deficit/hyperactivity disorder		126452		CDC	2006												
146873	Y	attention deficit hyperactivity disorder externalizing behavior IQ	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Child Behavior Disorders	11	11p15.5	DRD4	627304	630703		Deyoung, C. G.  et al. 2006	17146015				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Arch Gen Psychiatry    2006    63(12)    1410-6	The Dopamine D4 Receptor Gene and Moderation of the Association Between Externalizing Behavior and IQ		126452		CDC	2006	Allelic variation of the dopamine D4 receptor gene appears to be a genetic factor moderating the association between externalizing behavior and cognitive ability.											
146875		attention deficit hyperactivity disorder	PSYCH	PSY	Prenatal Exposure Delayed Effects|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Neuman, R. J.  et al. 2006	17157268				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2006	Prenatal Smoking Exposure and Dopaminergic Genotypes Interact to Cause a Severe ADHD Subtype		126452		CDC	2006	Results indicate that smoking during pregnancy is associated with specific subtypes of ADHD in genetically susceptible children.		alcohol, maternal smoking (tobacco), maternal									
146876	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Gornick, M. C.  et al. 2006	17171657				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	Association of the dopamine receptor D4 (DRD4) gene 7-repeat allele with children with attention-deficit/hyperactivity disorder (ADHD)		126452		CDC	2006												
146877	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Kereszturi, E.  et al. 2006	17171658				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2006	Association between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder		126452		CDC	2006												
146878	Y	drug abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Mood Disorders|Schizophrenia	11	11p15.5	DRD4	627304	630703		McGeary, J. E.  et al. 2006	17175015				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Pharmacol Biochem Behav    2006	Associations of the dopamine D4 receptor gene VNTR polymorphism with drug use in adolescent psychiatric inpatients		126452		CDC	2006												
146880	Y	infant disorganization	REPRODUCTION	REP	Stress Disorders, Traumatic|Anxiety, Separation	11	11p15.5	DRD4	627304	630703		Van Ijzendoorn, M. H.  et al. 2006	17178609				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Attach Hum Dev    2006    8(4)    291-307	DRD4 7-repeat polymorphism moderates the association between maternal unresolved loss or trauma and infant disorganization		126452		CDC	2006			maternal unresolved loss/trauma									
146881	N	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Kim, S. J.  et al. 2006	17191306				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		CDC GDP info	1815	Hs.99922			Yonsei Med J    2006    47(6)    787-92	Lack of Association between Polymorphisms of the Dopamine Receptor D4 and Dopamine Transporter Genes and Personality Traits in a Korean Population		126452		CDC	2006												
146883	Y	cognitive function	PSYCH	PSY	Lead Poisoning, Nervous System, Childhood|Cognition Disorders	11	11p15.5	DRD4	627304	630703		Froehlich, T. E.  et al. 2007	17239353				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2007	Interactive Effects of a DRD4 Polymorphism, Lead, and Sex on Executive Functions in Children		126452		CDC	2007	We observed independent effects of DRD4-7 and lead on various executive functions and modifications of lead effects by DRD4 genotype and sex.											
146884		attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Eichhammer, P.  et al. 2007	17253343			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Psychiatr Prax    2007    34(1 Suppl)    6-7	The Dopamine D4 Receptor (DRD4) Gene Promoter in Adult Subjects with ADHD.		126452		CDC	2007	are in line with earlier findings on higher extraversion scores in females, but not in males, carrying the allele.											
146885	Y	craving	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Mackillop, J.  et al. 2007	17309802				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Behav Brain Funct    2007    3(1)    11	Effects of craving and DRD4 VNTR genotype on the relative value of alcohol		126452		CDC	2007	These results are interpreted as generally supporting Loewenstein\s visceral theory of craving and evidence of a functional role of DRD4 VNTR genotype in the expression of craving for alcohol. Methodological limitations, mechanisms underlying these findings, and future directions are discussed.											
146886	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Laurin, N.  et al. 2007	17325714				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Mol Psychiatry    2007    12(3)    226-9	No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder		126452		CDC	2007												
146888		impulse control disorder	PSYCH	PSY	Substance-Related Disorders|Impulse Control Disorders	11	11p15.5	DRD4	627304	630703		Sabbatini da Silva Lobo, D.  et al. 2007	17394052				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Gambl Stud    2007	Dopamine Genes and Pathological Gambling in Discordant Sib-Pairs		126452		CDC	2007												
146889	Y	smoking behavior	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Laucht, M.  et al. 2007	17406960				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Neural Transm    2007	Association between ADHD and smoking in adolescence		126452		CDC	2007			attention deficit hyperactivity disorder									
146890		smoking behavior	CHEMDEPENDENCY	CHEM	Substance Withdrawal Syndrome|Tobacco Use Disorder	11	11p15.5	DRD4	627304	630703		Vandenbergh, D. J.  et al. 2007	17407504				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Addict Biol    2007    12(1)    106-16	Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors		126452		CDC	2007												
146891		anorexia nervosa perfectionism	PSYCH	PSY	Anorexia Nervosa	11	11p15.5	DRD4	627304	630703		Bachner-Melman, R.  et al. 2007	17440932				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4)		126452		CDC	2007												
146892		alcohol abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Guo, G.  et al. 2007	17440951				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood		126452		CDC	2007												
146893	N	smoking behavior	PHARMACOGENOMIC	PHARM		11	11p15.5	DRD4	627304	630703		Ton, T. G.  et al. 2007	17466074				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		126452		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
146894		novelty seeking	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Reist, C.  et al. 2007	17474081				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian;Korean;Asian		CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Novelty seeking and the dopamine D4 receptor gene (DRD4) revisited in Asians		126452		CDC	2007												
146895	Y	migraine	NEUROLOGICAL	NEUR	Migraine without Aura|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		de Sousa, S. C.  et al. 2007	17474108				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Ann Neurol    2007	A dopamine D4 receptor exon 3 VNTR allele protecting against migraine without aura		126452		CDC	2007												
146896		body mass	METABOLIC	MET	Body Weight	11	11p15.5	DRD4	627304	630703		Guo, G.  et al. 2007	17495196				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	African American;Hispanic ;European		CDC GDP info	1815	Hs.99922			Obesity (Silver Spring)    2007    15(5)    1199-206	Body Mass, DRD4, Physical Activity, Sedentary Behavior, and Family Socioeconomic Status		126452		CDC	2007												
146897		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Lasky-Su, J.  et al. 2007	17501935				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Ann Hum Genet    2007	Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder		126452		CDC	2007	await independent replication, these results suggest that a variant in DRD5 may affect age at onset for ADHD.											
146898		alcohol craving cue-reactivity	CHEMDEPENDENCY	CHEM	Alcoholism	11	11p15.5	DRD4	627304	630703		van den Wildenberg, E.  et al. 2007	17508995				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Addict Biol    2007    12(2)    210-20	Polymorphisms of the dopamine D4 receptor gene (DRD4 VNTR) and cannabinoid CB1 receptor gene (CNR1) are not strongly related to cue-reactivity after alcohol exposure		126452		CDC	2007												
146899		impulsivity	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Congdon, E.  et al. 2007	17525955				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Analysis of DRD4 and DAT polymorphisms and behavioral inhibition in healthy adults		126452		CDC	2007												
146901	N	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11p15.5	DRD4	627304	630703		Lee, H. J.  et al. 2007	17556853	DRD4   -521 C/T Polymorphism			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Korean		CDC GDP info	1815	Hs.99922			Neuropsychobiology    2007    55(1)    47-51	No Association between Dopamine D4 Receptor Gene -521 C/T Polymorphism and Tardive Dyskinesia in Schizophrenia		126452		CDC	2007												
146902	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Lasky-Su, J.  et al. 2007	17560555	DRD4   rs7124601			Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2007	Partial Replication of a DRD4 Association in ADHD Individuals Using a Statistically Derived Quantitative Trait for ADHD in a Family-Based Association Test	rs7124601	126452		CDC	2007	This study partially replicated a previous finding by identifying an association between rs7124601 and a quantitative trait generated from ADHD symptoms.											
146903	Y	attention deficit hyperactivity disorder behavior disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Guan, L. L.  et al. 2007	17572775				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Beijing Da Xue Xue Bao    2007    39(3)    233-6	Association analysis of dopamine D4 receptor gene polymorphism and attention deficit hyperactivity disorder with/without disruptive behavior disorder.		126452		CDC	2007	Our findings suggest that the -521C/T SNP of DRD4 may contribute to the predisposition to ADHD with comorbid DBD. This study supports for the hypothesis that ADHD with comorbid DBD may be influenced by greater genetic effect compared to ADHD alone.											
146904	Y	personality traits	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Munafo, M. R.  et al. 2007	17574217				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2007	Association of the Dopamine D4 Receptor (DRD4) Gene and Approach-Related Personality Traits		126452		CDC	2007	The DRD4 gene may be associated with measures of novelty seeking and impulsivity but not extraversion.											
146906		antisocial personality disorder attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Langley, K.  et al. 2007	17579368				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior		126452		CDC	2007			alcohol, maternal birth weight smoking (tobacco), maternal									
146907	Y	antisocial behavior conduct disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Beaver, K. M.  et al. 2007	17587443				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Behav Brain Funct    2007    3(1)    30	A gene x gene interaction between DRD2 and DRD4 is associated with conduct disorder and antisocial behavior in males		126452		CDC	2007	The results suggest that a gene x gene interaction between DRD2 and DRD4 is associated with the development of conduct disorder and adult antisocial behavior in males.											
146908		behavior problems	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity|Child Behavior Disorders|Developmental Disabilities	11	11p15.5	DRD4	627304	630703		Becker, K.  et al. 2007	17608284				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Z Kinder Jugendpsychiatr Psychother    2007    35(2)    145-51	Dopaminergic polymorphisms and regulatory problems in infancy		126452		CDC	2007	The result must be replicated in an independent sample before any conclusions can be drawn.											
146910		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		4	4p16.1	DRD5	9392700	9394731		Comings, D. E.  et al. 2000	11140838				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126453		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146911		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	4	4p16.1	DRD5	9392700	9394731			16526040				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Am J Med Genet B Neuropsychiatr Genet    2006	The effect of dopamine D2, D5 receptor and transporter (SLC6A3) polymorphisms on the cue-elicited heroin craving in Chinese		126453		CDC	2006												
146912	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Li, D.  et al. 2006	16774975				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3	European;Asian		CDC GDP info	1816	Hs.380681			Hum Mol Genet    2006	Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD)		126453		CDC	2006	there is a statistically significant association between ADHD and dopamine system genes, especially DRD4 and DRD5.											
146913	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Laurin, N.  et al. 2007	17325714				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Mol Psychiatry    2007    12(3)    226-9	No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder		126453		CDC	2007												
146914		impulse control disorder	PSYCH	PSY	Substance-Related Disorders|Impulse Control Disorders	4	4p16.1	DRD5	9392700	9394731		Sabbatini da Silva Lobo, D.  et al. 2007	17394052				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			J Gambl Stud    2007	Dopamine Genes and Pathological Gambling in Discordant Sib-Pairs		126453		CDC	2007												
146915		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Kim, J. W.  et al. 2007	17427194				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of parent-of-origin effects in ADHD candidate genes		126453		CDC	2007												
146916	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	4	4p16.1	DRD5	9392700	9394731		Lasky-Su, J.  et al. 2007	17501935				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Ann Hum Genet    2007	Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder		126453		CDC	2007	await independent replication, these results suggest that a variant in DRD5 may affect age at onset for ADHD.											
146917		antisocial personality disorder attention deficit hyperactivity disorder	PSYCH	PSY		4	4p16.1	DRD5	9392700	9394731		Langley, K.  et al. 2007	17579368				Dopamine receptor D5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000798.3			CDC GDP info	1816	Hs.380681			Am J Med Genet B Neuropsychiatr Genet    2007	Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior		126453		CDC	2007			alcohol, maternal birth weight smoking (tobacco), maternal									
146919		acute coronary syndrome C-reactive protein	CARDIOVASCULAR	CARD	Myocardial Ischemia|Acute Disease|Acute-Phase Reaction	X	Xq22	DRP2	100361640	100402573		Suk Danik, J.  et al. 2006	17044845				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1	European		CDC GDP info	1821	Hs.159291			Ann Hum Genet    2006    70(Pt 6)    705-16	Influence of genetic variation in the C-reactive protein gene on the inflammatory response during and after acute coronary ischemia		300052		CDC	2006												
146920		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	X	Xq22	DRP2	100361640	100402573		Ujike, H.  et al. 2006	17105906				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1			CDC GDP info	1821	Hs.159291			Ann N Y Acad Sci    2006    1074    90-96	Association Study of the Dihydropyrimidinase-Related Protein 2 Gene and Methamphetamine Psychosis		300052		CDC	2006												
146921	Y	pemphigus vulgaris	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	18	18q12.1-q12.2	DSG3	27281729	27312663			16403096				Desmoglein 3 (pemphigus vulgaris antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001944	Indian		CDC GDP info	1830	Hs.1925			Br J Dermatol    2006    154(1)    67-71	Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris		169615		CDC	2006	These results suggest that genetic variation of DSG3 may be an additive risk factor predisposing to PV and warrant further investigations of this gene.											
146922		breast cancer, male	CANCER	CAN	Breast Neoplasms, Male	7	7q21.3-q22.1	DSS1	96156014	96177139		Syrjakoski, K.  et al. 2007	17066443				split hand/foot malformation (ectrodactyly) type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AK094899			CDC GDP info	7979				Int J Cancer    2007    120(2)    444-6	Mutations in the BRCA2 interacting DSS1 are not a risk factor for male breast cancer		601285		CDC	2007												
146923		cognitive ability	PSYCH	PSY	Psychotic Disorders|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250			16415041				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Hum Mol Genet    2006	Genetic Variation in DTNBP1 Influences General Cognitive Ability		607145		CDC	2006												
146924	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Derosse, P.  et al. 2006	16513878				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Caucasian		CDC GDP info	84062	Hs.571148			Am J Psychiatry    2006    163(3)    532-4	Dysbindin genotype and negative symptoms in schizophrenia		607145		CDC	2006	These data suggest that the effect of DTNBP1 genetic variation may be associated with negative symptoms in patients with schizophrenia.											
146925		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Tochigi, M.  et al. 2006	16876895				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Japanese;Caucasian;Asian	Japan	CDC GDP info	84062	Hs.571148			Neurosci Res    2006	Association study of the dysbindin (DTNBP1) gene in schizophrenia from the Japanese population		607145		CDC	2006	can be reached.											
146927		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Breen, G.  et al. 2006	16946192				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Am J Psychiatry    2006    163(9)    1636-8	Association of the dysbindin gene with bipolar affective disorder		607145		CDC	2006	Findings suggest that the human dysbindin gene may play a role in the susceptibility to bipolar affective disorder, which underscores a potentially important area of etiological overlap with schizophrenia.											
146928	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Joo, E. J.  et al. 2006	16959423				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Korean	Korea	CDC GDP info	84062	Hs.571148			Neurosci Lett    2006	The dysbindin gene (DTNBP1) and schizophrenia		607145		CDC	2006	DTNBP1 is not likely to be a major susceptibility gene for schizophrenia in this Korean population.											
146929	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Pedrosa, E.  et al. 2006	16967465				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Am J Med Genet B Neuropsychiatr Genet    2006	Positive association of schizophrenia to JARID2 gene		607145		CDC	2006												
146931	Y	cognitive function	PSYCH	PSY	Disease Progression|Genetic Predisposition to Disease|Cognition Disorders|Psychotic Disorders|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Burdick, K. E.  et al. 2006	17074466				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Caucasian		CDC GDP info	84062	Hs.571148			Schizophr Res    2006	DTNBP1 genotype influences cognitive decline in schizophrenia		607145		CDC	2006	These data suggest that DTNBP1 influences the severity of intellectual decline in schizophrenia and may represent one underlying cause for heterogeneity in cognitive course.											
146932		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	6	6p22.3	DTNBP1	15631017	15771250		Pae, C. U.  et al. 2006	17192893				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Am J Med Genet B Neuropsychiatr Genet    2006	Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder		607145		CDC	2006												
146933	Y	depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	6	6p22.3	DTNBP1	15631017	15771250		Pae, C. U.  et al. 2007	17264804				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Korean		CDC GDP info	84062	Hs.571148			Pharmacogenet Genomics    2007    17(1)    69-75	Dysbindin associated with selective serotonin reuptake inhibitor antidepressant efficacy		607145		CDC	2007	Despite limitations due to the sample size and the mild antidepressant response, we observed a significant association between DTNBP1 variants and antidepressant response.		antidepressants									
146935	Y	cognitive function schizotypy	PSYCH	PSY	Schizotypal Personality Disorder|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Stefanis, N. C.  et al. 2007	17336946				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Biol Psychiatry    2007	Impact of Schizophrenia Candidate Genes on Schizotypy and Cognitive Endophenotypes at the Population Level		607145		CDC	2007	The DTNP1 and, less so, NRG1 and DAAO variants might exert gene-specific modulating effects on schizophrenia endophenotypes at the population level.											
146936	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Liu, C. M.  et al. 2007	17407805				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Schizophr Res    2007	No association evidence between schizophrenia and dystrobrevin-binding protein 1 (DTNBP1) in Taiwanese families		607145		CDC	2007												
146938	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Bakker, S. C.  et al. 2007	17410640				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Genes Brain Behav    2007    6(2)    113-9	The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia		607145		CDC	2007	our data provide further evidence that specific genes may be involved in different schizophrenia subtypes and suggest that the PIP5K2A gene deserves further study as a general susceptibility gene for schizophrenia.											
146939	Y	bipolar disorder schizoaffective disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders	6	6p22.3	DTNBP1	15631017	15771250		Joo, E. J.  et al. 2007	17433541				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Neurosci Lett    2007	Dysbindin gene variants are associated with bipolar I disorder in a Korean population		607145		CDC	2007												
146940	Y	psychoses schizophrenia	PSYCH	PSY		6	6p22.3	DTNBP1	15631017	15771250		Zinkstok, J. R.  et al. 2007	17445278				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Behav Brain Funct    2007    3(1)    19	Association between the DTNBP1 gene and intelligence		607145		CDC	2007	Although preliminary, our results provide evidence for association between the DTNBP1 gene and intelligence in patients with FEP and their unaffected siblings.											
146942	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Li, D.  et al. 2007	17604607				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Schizophr Res    2007	Association study between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia		607145		CDC	2007	there is only a weak association of one SNP in DTNBP1 with schizophrenia, which is not significant after multiple testing.											
146943	Y	schizophrenia	PSYCH	PSY		6	6p22.3	DTNBP1	15631017	15771250		Morris, D. W.  et al. 2007	17618940				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Biol Psychiatry    2007	Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1)		607145		CDC	2007	Together these data provide evidence for the involvement of the BLOC-1 protein complex in SZ pathogenesis.			DTNBP1		MUTED						
146944		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	15	15q15.3	DUOX1	43209483	43245066		Lee, P. L.  et al. 2006	16608528				Dual oxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017434		California	CDC GDP info	53905	Hs.272813			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		606758		CDC	2006												
146945		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	15	15q15.3	DUOX2	43172143	43193651		Lee, P. L.  et al. 2006	16608528				Dual oxidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209010		California	CDC GDP info	50506	Hs.71377			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		606759		CDC	2006												
146946	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1q21-q22	DUSP12	159986204	159993576		Das, S. K.  et al. 2006	16936214				Dual specificity phosphatase 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC006286	Caucasian;European		CDC GDP info	11266	Hs.416216			Diabetes    2006    55(9)    2631-9	Polymorphisms in the Glucokinase-Associated, Dual-Specificity Phosphatase 12 (DUSP12) Gene Under Chromosome 1q21 Linkage Peak Are Associated With Type 2 Diabetes				CDC	2006												
146948		dyslexia	NEUROLOGICAL	NEUR	Dyslexia		15q21	DYX1				Brkanac, Z.  et al. 2007	17450541				dyslexia susceptibility 1				CDC GDP info	1867	Hs.489201			Am J Med Genet B Neuropsychiatr Genet    2007	Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia		608706		CDC	2007												
146949	Y	dyslexia	NEUROLOGICAL	NEUR	Dyslexia	15	15q21.3	DYX1C1	53497245	53587724		Marino, C.  et al. 2007	17309662				Dyslexia susceptibility 1 candidate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130810	Italian		CDC GDP info	161582	Hs.126403			Genes Brain Behav    2007	Association of short-term memory with a variant within DYX1C1 in developmental dyslexia		608706		CDC	2007												
146950		dyslexia	NEUROLOGICAL	NEUR	Dyslexia	6	6p22.3-p22.2	DYX2				Brkanac, Z.  et al. 2007	17450541				KIAA0319	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_014809			CDC GDP info	9856	Hs.26441			Am J Med Genet B Neuropsychiatr Genet    2007	Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia		609269		CDC	2007												
146951		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	8	8q24	ECA1				Quintero-Ramos, A.  et al. 2006	16711541				epilepsy, childhood absence 1				CDC GDP info	50966				Gac Med Mex    2006    142(2)    95-8	Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion		600131		CDC	2006												
146953		arterial stiffness blood pressure, arterial	CARDIOVASCULAR	CARD		1	1p36.1	ECE1	21418938	21544493		Iemitsu, M.  et al. 2006	16567585				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDP info	1889	Hs.195080			Hypertension    2006	Polymorphism in Endothelin-Related Genes Limits Exercise-Induced Decreases in Arterial Stiffness in Older Subjects		600423		CDC	2006			physical activity									
146954	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1p36.1	ECE1	21418938	21544493		Buhler, K.  et al. 2007	17264805				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDP info	1889	Hs.195080			Pharmacogenet Genomics    2007    17(1)    77-83	Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes		600423		CDC	2007	This large case-control study argues for an only minor-if any-role of the ET-1 and ECE-1 genotype for the risk of coronary artery disease development.											
146955	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.1	ECE1	21418938	21544493		Wang, L. S.  et al. 2007	17618613				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDP info	1889	Hs.195080			Clin Chim Acta    2007	Endothelin-converting enzyme-1b C-338A polymorphism is associated with the increased risk of coronary artery disease in Chinese population		600423		CDC	2007	Our results suggested that ECE-1b-338C to A variant might be associated with increased risk of CAD in Chinese population.											
146956		arterial stiffness blood pressure, arterial	CARDIOVASCULAR	CARD		3		ECE2	185450142	185493512		Iemitsu, M.  et al. 2006	16567585				Endothelin converting enzyme 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014693			CDC GDP info	9718	Hs.146161			Hypertension    2006	Polymorphism in Endothelin-Related Genes Limits Exercise-Induced Decreases in Arterial Stiffness in Older Subjects				CDC	2006			physical activity									
146958	Y	lymphoma, cutaneous T-cell	CANCER	CAN	Lymphoma, T-Cell, Cutaneous|Skin Neoplasms	6	6p24.1	EDN1	12398644	12404763			16521405	-4A-4A in -3A/-4A EDN1 and genotypes GA and GG in G8002A EDN1			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Cas Lek Cesk    2006    145(2)    144-7	Association of polymorphic variants in endothelin-1 (EDN1) genes with the therapy of patients with cutaneous T-cell lymphomas		131240		CDC	2006	Some polymorphic variants in EDN1 genes, a homozygote -4A-4A in -3A/-4A EDN1 and genotypes GA and GG in G8002A EDN1) seem to carry an advantage for phototherapy effectiveness in patients with CTCL.		phototherapy									
146959		diabetes, type 2 ischemic disease of lower limbs myocardial infarct	METABOLIC	MET	Heart Failure|Myocardial Infarction|Ischemia|Myocardial Ischemia|Diabetes Mellitus|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763			16526196				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Vnitr Lek    2006    52(1)    34-9	Does G8002A polymorphism in endothelin gene have a meaning for other risks at the patients with heart failure?		131240		CDC	2006												
146960	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure	6	6p24.1	EDN1	12398644	12404763		Colombo, M. G.  et al. 2006	16582543	Lys198Asn			Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Cardiology    2006    105(4)    246-252	ET-1 Lys198Asn and ET(A) Receptor H323H Polymorphisms in Heart Failure. A Case-Control Study		131240		CDC	2006	The ET-1 Lys198Asn and ET(A) receptor H323H polymorphisms seem to act synergistically to increase the risk of HF.											
146962	N	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	6	6p24.1	EDN1	12398644	12404763		Reiterova, J.  et al. 2006	16943682				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Kidney Blood Press Res    2006    29(3)    182-8	Influence of endothelin-1 gene polymorphisms on the progression of autosomal dominant polycystic kidney disease		131240		CDC	2006	We excluded an effect of K198N, 3A/4A, and T-1370G polymorphisms of EDN1 on the progression of ADPKD. However, a deleterious effect of the combination of 4A and 198N alleles of EDN1 was observed in APKDK individuals.											
146963		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p24.1	EDN1	12398644	12404763		Fonseca, C.  et al. 2006	16947775				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Arthritis Rheum    2006    54(9)    3034-42	Endothelin axis polymorphisms in patients with scleroderma		131240		CDC	2006	The finding of associations between endothelin receptors A and B and distinct clinical and immunologic SSc subsets supports the role of endothelin and its receptors in the pathogenesis of SSc.											
146964		sickle cell anemia	HEMATOLOGICAL	HEM	Pain|Vascular Diseases|Anemia, Sickle Cell|Genetic Predisposition to Disease|Chest Pain	6	6p24.1	EDN1	12398644	12404763		Chaar, V.  et al. 2006	16956834				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Haematologica    2006    91(9)    1277-8	ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia		131240		CDC	2006												
146965	N	glaucoma, normal tension	VISION	VIS	Glaucoma	6	6p24.1	EDN1	12398644	12404763		Kim, S. H.  et al. 2006	16971893				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Korean		CDC GDP info	1906	Hs.511899			Mol Vis    2006    12    1016-21	Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes		131240		CDC	2006	A polymorphism of the endothelin receptor type A gene is associated with NTG.											
146967	P		NORMALVARIATION	NV		6	6p24.1	EDN1	12398644	12404763		Diefenbach, K.  et al. 2006	17020466				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	German		CDC GDP info	1906	Hs.511899			Genet Test    2006    10(3)    163-8	Systematic analysis of sequence variability of the endothelin-1 gene		131240		CDC	2006												
146968	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6p24.1	EDN1	12398644	12404763		Buhler, K.  et al. 2007	17264805				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Pharmacogenet Genomics    2007    17(1)    77-83	Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes		131240		CDC	2007	This large case-control study argues for an only minor-if any-role of the ET-1 and ECE-1 genotype for the risk of coronary artery disease development.											
146970	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular	6	6p24.1	EDN1	12398644	12404763		Castro, M. G.  et al. 2007	17335511				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Ann Hum Genet    2007	Screening of the endothelin1 gene (EDN1) in a cohort of patients with essential left ventricular hypertrophy		131240		CDC	2007	our work has shown that EDN1 variation, and in particular homozygosity for the -1224A/198K haplotype, is associated with the risk of developing cardiac hypertrophy. However, these EDN1 variants do not affect in vitro gene expression.											
146971		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	6	6p24.1	EDN1	12398644	12404763		Kankova, K.  et al. 2007	17345061				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach		131240		CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
146972	Y	atherosclerosis, coronary cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Pare, G.  et al. 2007	17357073				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Quebec		CDC GDP info	1906	Hs.511899			Am J Hum Genet    2007    80(4)    673-82	Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol		131240		CDC	2007												
146973		body mass hypertension	METABOLIC	MET	Hypertension|Obesity	6	6p24.1	EDN1	12398644	12404763		Barath, A.  et al. 2007	17444275				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Acta Physiol Hung    2007    94(1-2)    49-66	Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension		131240		CDC	2007												
146974		asthma	IMMUNE	IMM	Asthma|Lung Diseases, Obstructive	6	6p24.1	EDN1	12398644	12404763		Taille, C.  et al. 2007	17470272				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2		France	CDC GDP info	1906	Hs.511899			BMC Pulm Med    2007    7(1)    5	ETB receptor polymorphism is associated with airway obstruction		131240		CDC	2007	were confirmed in a large population of adults from the general population from the ECRHS II study.											
146976	Y	vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p24.1	EDN1	12398644	12404763		Kim, H. J.  et al. 2007	17576235				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2	Korean		CDC GDP info	1906	Hs.511899			Exp Dermatol    2007    16(7)    561-6	The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population		131240		CDC	2007	This study suggests that EDN1 is related to the development of vitiligo in the Korean population.											
146977		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	20	20q13.2-q13.3	EDN3	57308893	57334442		Sangkhathat, S.  et al. 2006	17009072				Endothelin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC053866	Asian		CDC GDP info	1908	Hs.1408			J Hum Genet    2006	Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients		131242		CDC	2006												
146979		arterial stiffness blood pressure, arterial	CARDIOVASCULAR	CARD		4	4q31.22-q31.23	EDNRA	148621579	148685555		Iemitsu, M.  et al. 2006	16567585				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Hypertension    2006	Polymorphism in Endothelin-Related Genes Limits Exercise-Induced Decreases in Arterial Stiffness in Older Subjects		131243		CDC	2006			physical activity									
146981	N	headache migraine migraine with aura	NEUROLOGICAL	NEUR	Headache|Genetic Predisposition to Disease	4	4q31.22-q31.23	EDNRA	148621579	148685555		Lisi, V.  et al. 2006	16618267	EDNRA   -231 G>A			Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Headache    2006    46(3)    486-91	Endothelin receptor A -231 G>A polymorphism		131243		CDC	2006	Our study shows that the -231 G>A polymorphism in the EDNRA gene is neither associated with primary juvenile headache nor significantly correlated with main clinical features characteristic of the headache pathology in pediatric settings.											
146982		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	4	4q31.22-q31.23	EDNRA	148621579	148685555		Fonseca, C.  et al. 2006	16947775				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Arthritis Rheum    2006    54(9)    3034-42	Endothelin axis polymorphisms in patients with scleroderma		131243		CDC	2006	The finding of associations between endothelin receptors A and B and distinct clinical and immunologic SSc subsets supports the role of endothelin and its receptors in the pathogenesis of SSc.											
146983	Y	glaucoma, normal tension	VISION	VIS	Glaucoma	4	4q31.22-q31.23	EDNRA	148621579	148685555		Kim, S. H.  et al. 2006	16971893				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1	Korean		CDC GDP info	1909	Hs.183713			Mol Vis    2006    12    1016-21	Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes		131243		CDC	2006	A polymorphism of the endothelin receptor type A gene is associated with NTG.											
146984		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	4	4q31.22-q31.23	EDNRA	148621579	148685555		Yamaguchi, S.  et al. 2006	17016617				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		131243		CDC	2006												
146985		aortic pressure cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	4	4q31.22-q31.23	EDNRA	148621579	148685555		Telgmann, R.  et al. 2007	17198909				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Am J Hypertens    2007    20(1)    32-37	The G-231A Polymorphism in the Endothelin-A Receptor Gene Is Associated With Lower Aortic Pressure in Patients With Dilated Cardiomyopathy		131243		CDC	2007	Our results suggest an association of genetic variation in the ET(A) receptor gene with aortic pressure in patients with DCM.											
146987		asthma	IMMUNE	IMM	Asthma|Lung Diseases, Obstructive	4	4q31.22-q31.23	EDNRA	148621579	148685555		Taille, C.  et al. 2007	17470272				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1		France	CDC GDP info	1909	Hs.183713			BMC Pulm Med    2007    7(1)    5	ETB receptor polymorphism is associated with airway obstruction		131243		CDC	2007	were confirmed in a large population of adults from the general population from the ECRHS II study.											
146988	Y	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Atherosclerosis|Hypertension|Disease Progression	4	4q31.22-q31.23	EDNRA	148621579	148685555		Yasuda, H.  et al. 2007	17525706				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			J Hum Hypertens    2007	Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension		131243		CDC	2007												
146989		arterial stiffness blood pressure, arterial	CARDIOVASCULAR	CARD		13	13q22	EDNRB	77367616	77447665		Iemitsu, M.  et al. 2006	16567585				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDP info	1910	Hs.82002			Hypertension    2006	Polymorphism in Endothelin-Related Genes Limits Exercise-Induced Decreases in Arterial Stiffness in Older Subjects		131244		CDC	2006			physical activity									
146990		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	13	13q22	EDNRB	77367616	77447665		Fonseca, C.  et al. 2006	16947775				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDP info	1910	Hs.82002			Arthritis Rheum    2006    54(9)    3034-42	Endothelin axis polymorphisms in patients with scleroderma		131244		CDC	2006	The finding of associations between endothelin receptors A and B and distinct clinical and immunologic SSc subsets supports the role of endothelin and its receptors in the pathogenesis of SSc.											
146992	N	Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Genetic Predisposition to Disease	13	13q22	EDNRB	77367616	77447665		Kim, J. H.  et al. 2006	17011274				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1	Japanese;Chinese;Caucasian;European;Korean		CDC GDP info	1910	Hs.82002			J Pediatr Surg    2006    41(10)    1708-12	New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea		131244		CDC	2006	This study identified additional sequence variants of the EDNRB gene, but the estimated EDNRB haplotypes did not show any disease risk.											
146993		asthma	IMMUNE	IMM	Asthma|Lung Diseases, Obstructive	13	13q22	EDNRB	77367616	77447665		Taille, C.  et al. 2007	17470272				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1		France	CDC GDP info	1910	Hs.82002			BMC Pulm Med    2007    7(1)    5	ETB receptor polymorphism is associated with airway obstruction		131244		CDC	2007	were confirmed in a large population of adults from the general population from the ECRHS II study.											
146994	Y	atherosclerosis, generalized	CARDIOVASCULAR	CARD	Atherosclerosis|Hypertension|Disease Progression	13	13q22	EDNRB	77367616	77447665		Yasuda, H.  et al. 2007	17525706				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1			CDC GDP info	1910	Hs.82002			J Hum Hypertens    2007	Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension		131244		CDC	2007												
146996			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Lee, J. K.  et al. 2003	12768436				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Japanese;Caucasian;Korean		CDC GDP info	1950	Hs.419815			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		131530		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
146997		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	4	4q25	EGF	111053498	111152868			16407418				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		131530		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
146999	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	4	4q25	EGF	111053498	111152868		Okamoto, I.  et al. 2006	16691190	EGF A61G	prognostic	5'promoter	Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			J Invest Dermatol    2006	The EGF A61G Polymorphism Is Associated with Disease-Free Period and Survival in Malignant Melanoma		131530		CDC	2006												
147000		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	4	4q25	EGF	111053498	111152868		Zhang, W.  et al. 2006	16788380				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		131530		CDC	2006			cetuximab									
147001		brain cancer	CANCER	CAN	Glioblastoma	4	4q25	EGF	111053498	111152868		Carpentier, C.  et al. 2006	16885506			promoter	Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Neurology    2006	Polymorphism in Sp1 recognition site of the EGF receptor gene promoter and risk of glioblastoma		131530		CDC	2006												
147002	N	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q25	EGF	111053498	111152868		Lee, K. Y.  et al. 2006	16979250				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Neurosci Res    2006	Partial evidence of an association between epidermal growth factor A61G polymorphism and age at onset in male schizophrenia		131530		CDC	2006	although we were unable to support an association between EGF A61G and schizophrenia, the AA genotype might play a disease-modifying role differentially according to gender.											
147003	N	brain cancer	CANCER	CAN	Glioblastoma|Brain Neoplasms|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Vauleon, E.  et al. 2007	17175377				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Cancer Genet Cytogenet    2007    172(1)    33-7	The 61 A/G EGF polymorphism is functional but is neither a prognostic marker nor a risk factor for glioblastoma		131530		CDC	2007												
147004		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease|Neovascularization, Pathologic	4	4q25	EGF	111053498	111152868		Butt, C.  et al. 2007	17204151				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			BMC Musculoskelet Disord    2007    8    1	VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis		131530		CDC	2007	The T allele of VEGF in +936 may act as a protective allele in the development of PsA. Further studies regarding the role of pro-angiogenic markers in PsA are warranted.											
147006	Y	birth weight	METABOLIC	MET	Fetal Growth Retardation|Birth Weight	4	4q25	EGF	111053498	111152868		Dissanayake, V. H.  et al. 2007	17392355			coding sequence	Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	White Western European, Sri Lanka Sinhalese		CDC GDP info	1950	Hs.419815			Mol Hum Reprod    2007	Polymorphism in the epidermal growth factor gene is associated with birthweight in Sinhalese and white Western Europeans		131530		CDC	2007												
147007	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	4	4q25	EGF	111053498	111152868		Jin, G.  et al. 2007	17433039			promoter	Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Cancer Sci    2007	Variant genotypes and haplotypes of the epidermal growth factor gene promoter are associated with a decreased risk of gastric cancer in a high-risk Chinese population		131530		CDC	2007												
147008	Y	brain cancer	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Costa, B. M.  et al. 2007	17473192	EGF+61			Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2			CDC GDP info	1950	Hs.419815			Clin Cancer Res    2007    13(9)    2621-6	Association between Functional EGF+61 Polymorphism and Glioma Risk		131530		CDC	2007	These findings support the role of the EGF+61 polymorphism as a susceptibility factor for development of gliomas and show its implication on EGF promoter activity.											
147009		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q25	EGF	111053498	111152868		Silver, K. D.  et al. 2007	17479438				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Caucasian		CDC GDP info	1950	Hs.419815			Exp Clin Endocrinol Diabetes    2007    115(4)    229-31	Betacellulin variants and type 2 diabetes in the Old Order Amish		131530		CDC	2007												
147010			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Lee, J. K.  et al. 2003	12768436				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Japanese;Caucasian;Korean		CDC GDP info	1956	Hs.488293			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		131550		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
147012		breast cancer colorectal cancer stomach cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms	7	7p12	EGFR	55054218	55242525		Lee, J. W.  et al. 2006	16397024				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Clin Cancer Res    2006    12(1)    57-61	Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas		131550		CDC	2006	This study showed that in addition to lung adenocarcinomas, ERBB2 kinase domain mutation occurs in other common human cancers such as gastric, breast, and colorectal cancers, and suggested that alterations of ERBB2-mediated signaling pathway by ERBB2 mutations alone or together with K-RAS mutations may contribute to the development of human cancers.											
147013		lung cancer	CANCER	CAN	Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Haneda, H.  et al. 2006	16449241				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Jpn J Clin Oncol    2006	A Correlation Between EGFR Gene Mutation Status and Bronchioloalveolar Carcinoma Features in Japanese Patients with Adenocarcinoma		131550		CDC	2006	Adenocarcinomas with BAC components in male non-smokers seem to predict the presence of EGFR mutation. Half of female adenocarcinoma patients with EGFR mutation exhibit adenocarcinomas with non-BAC suggesting a different behavior from those in males. The prognosis of patients with adenocarcinoma with BAC components with EGFR gene mutation is predicted to be better than that of patients with adenocarcinoma with BAC components with wild-type EGFR gene.											
147014	Y	prostatic hyperplasia	OTHER	OTH	Prostatic Hyperplasia	7	7p12	EGFR	55054218	55242525		Mullan, R. J.  et al. 2006	16461080				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Urology    2006    67(2)    300-5	Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men		131550		CDC	2006	These findings suggest that transforming growth factor-beta 1, tumor necrosis factor-alpha, epidermal growth factor receptor, and vitamin D receptor polymorphisms may be involved in the pathogenesis of BPH.											
147015	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Riely, G. J.  et al. 2006	16467097				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Asian		CDC GDP info	1956	Hs.488293			Clin Cancer Res    2006    12(3)    839-44	Clinical course of patients with non-small cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinib		131550		CDC	2006	EGFR mutations in exons 19 or 21 are correlated with clinical factors predictive of response to gefitinib and erlotinib.		erlotinib gefitinib									
147016	N	lung cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Liver Diseases|Exanthema|Diarrhea	7	7p12	EGFR	55054218	55242525		Fujiwara, Y.  et al. 2006	16503086				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Lung Cancer    2006	Relationship between epidermal growth factor receptor gene mutations and the severity of adverse events by gefitinib in patients with advanced non-small cell lung cancer		131550		CDC	2006	Our study did not demonstrate the presence of close relationships between EGFR mutation status and adverse events during gefitinib treatment.		gefitinib									
147017	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Pham, D.  et al. 2006	16505411				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Clin Oncol    2006	Use of Cigarette Smoking History to Estimate the Likelihood of Mutations in Epidermal Growth Factor Receptor Gene Exons 19 and 21 in Lung Adenocarcinomas		131550		CDC	2006	The likelihood of EGFR mutations in exons 19 and 21 decreases as the number of pack-years increases. Mutations were less common in people who smoked for more than 15 pack-years or who stopped smoking cigarettes less than 25 years ago. These data can assist clinicians in assessing the likelihood of exon 19 and 21 EGFR mutations in patients with lung adenocarc		smoking (tobacco)									
147018	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sugio, K.  et al. 2006	16552419				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Br J Cancer    2006    94(6)    896-903	Mutations within the tyrosine kinase domain of EGFR gene specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking		131550		CDC	2006	the mutations within the tyrosine kinase domain of EGFR were found to specifically occur in lung adenocarcinoma patients with a low exposure of tobacco smoking.											
147019		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Murray, S.  et al. 2006	16567021				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Greek		CDC GDP info	1956	Hs.488293			Lung Cancer    2006	Mutations of the epidermal growth factor receptor tyrosine kinase domain and associations with clinicopathological features in non-small cell lung cancer patients		131550		CDC	2006			smoking (tobacco)									
147020	Y	rectal cancer	PHARMACOGENOMIC	PHARM	Rectal Neoplasms	7	7p12	EGFR	55054218	55242525		Spindler, K. L.  et al. 2006	16757132	EGFR Sp1 -216 G/T		promoter	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Int J Radiat Oncol Biol Phys    2006	Prediction of response to chemoradiation in rectal cancer by a gene polymorphism in the epidermal growth factor receptor promoter region		131550		CDC	2006	There was a significant correlation between EGFR Sp1 -216 G/T polymorphism and treatment response to chemoradiation in locally advanced rectal cancer. Further investigations of a second set of patient and other treatment schedules are warranted.		chemotherapy radiation									
147021		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Zhang, W.  et al. 2006	16788380				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		131550		CDC	2006			cetuximab									
147022	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Jackman, D. M.  et al. 2006	16818686				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Clin Cancer Res    2006    12(13)    3908-3914	Exon 19 Deletion Mutations of Epidermal Growth Factor Receptor Are Associated with Prolonged Survival in Non-Small Cell Lung Cancer Patients Treated with Gefitinib or Erlotinib		131550		CDC	2006	Patients with NSCLC and EGFR exon 19 deletions have a longer survival following treatment with gefitinib or erlotinib compared with those with the L858R mutation.		erlotinib gefitinib									
147023		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Han, S. W.  et al. 2006	16956694				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Korean		CDC GDP info	1956	Hs.488293			Lung Cancer    2006	Clinical predictors versus epidermal growth factor receptor mutation in gefitinib-treated non-small-cell lung cancer patients		131550		CDC	2006	EGFR mutation should be analyzed whenever possible for effective prediction of objective benefit from gefitinib in NSCLC patients with one or more clinical predictors.		smoking (tobacco)									
147024		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Matsuo, K.  et al. 2006	17054433				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Cancer Sci    2006	Risk factors differ for non-small-cell lung cancers with and without EGFR mutation		131550		CDC	2006	our case-control study clearly demonstrated that the impacts of smoking and sex on the risk of EGFRmut NSCLC are different from those for EGFRwt NSCLC. Further epidemiological evaluation is warranted.		reproductive history smoking (tobacco)									
147026	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Wang, X.  et al. 2006	17092854	intron 1		Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Asthma    2006    43(9)    711-5	Polymorphism of egfr Intron1 is Associated with Susceptibility and Severity of Asthma		131550		CDC	2006												
147027		lung cancer	CANCER	CAN		7	7p12	EGFR	55054218	55242525		Toyooka, S.  et al. 2006	17093935				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Cancer Chemother Pharmacol    2006	The impact and role of EGFR gene mutation on non-small cell lung cancer		131550		CDC	2006												
147028	P		CANCER	CAN	Breast Neoplasms	7	7p12	EGFR	55054218	55242525		Zhou, Q.  et al. 2006	17102595			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Chinese;Caucasian;Indian;Asian		CDC GDP info	1956	Hs.488293			Cancer Biol Ther    2006    5(11)	EGFR Intron 1 Polymorphism in Asian Populations and its Correlation with EGFR Gene Expression and Amplification in Breast Tumor Tissues		131550		CDC	2006	Our results show that the frequency of alleles encoding for short CA dinucleotide repeats is common in Asian populations.											
147029		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sutani, A.  et al. 2006	17106442				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Br J Cancer    2006	Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp		131550		CDC	2006			gefitinib									
147031		gefitinib toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Diarrhea	7	7p12	EGFR	55054218	55242525		Cusatis, G.  et al. 2006	17148776				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Natl Cancer Inst    2006    98(23)    1739-42	Pharmacogenetics of ABCG2 and Adverse Reactions to Gefitinib		131550		CDC	2006												
147032	N	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Lee, S. J.  et al. 2007	17175376			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Korean		CDC GDP info	1956	Hs.488293			Cancer Genet Cytogenet    2007    172(1)    29-32	No association between dinucleotide repeat polymorphism in intron 1 of the epidermal growth factor receptor gene EGFR and risk of lung cancer		131550		CDC	2007												
147033		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Ichihara, S.  et al. 2006	17192902				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Int J Cancer    2006	The impact of epidermal growth factor receptor gene status on gefitinib-treated Japanese patients with non-small-cell lung cancer		131550		CDC	2006			gefitinib									
147035		head and neck cancer	CANCER	CAN	Papillomavirus Infections|Carcinoma, Squamous Cell|Tongue Neoplasms|Tonsillar Neoplasms	7	7p12	EGFR	55054218	55242525		Na, I. I.  et al. 2007	17224267				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Eur J Cancer    2007    43(3)    520-6	EGFR mutations and human papillomavirus in squamous cell carcinoma of tongue and tonsil		131550		CDC	2007												
147036		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	7	7p12	EGFR	55054218	55242525		Puhringer-Oppermann, F. A.  et al. 2007	17227303				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Dis Esophagus    2007    20(1)    9-11	Lack of EGFR gene mutations in exons 19 and 21 in esophageal (Barrett's) adenocarcinomas		131550		CDC	2007	mutations within the tyrosine kinase domain of EGFR associated with sensitivity of non-small cell lung cancer patients to gefitinib are not present in esophageal (Barrett\s) adenocarcinoma.											
147037		lung cancer	PHARMACOGENOMIC	PHARM		7	7p12	EGFR	55054218	55242525		Liu, F.  et al. 2007	17285540				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    31-4	Mutational analysis of EGFR and K-RAS in Chinese patients with non-small cell lung cancer.		131550		CDC	2007	The data suggest that mutation frequency of EGFR in NSCLCs from Chinese patients is higher than that of western ethnicities, such mutations are well correlated with tumor response to gefitinib, and gefitinib is more fit for Chinese NSCLC patients.		gefitinib									
147038		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sequist, L. V.  et al. 2007	17285735				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Oncologist    2007    12(1)    90-8	Response to treatment and survival of patients with non-small cell lung cancer undergoing somatic EGFR mutation testing		131550		CDC	2007												
147039		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	7	7p12	EGFR	55054218	55242525		Tazon-Vega, B.  et al. 2007	17303584				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	European		CDC GDP info	1956	Hs.488293			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		131550		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
147040		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Bae, N. C.  et al. 2007	17321325				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Korean		CDC GDP info	1956	Hs.488293			Cancer Genet Cytogenet    2007    173(2)    107-13	EGFR, ERBB2, and KRAS mutations in Korean non-small cell lung cancer patients		131550		CDC	2007												
147041		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Na, I. I.  et al. 2007	17337084				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Lung Cancer    2007	The survival outcomes of patients with resected non-small cell lung cancer differ according to EGFR mutations and the P21 expression		131550		CDC	2007												
147043		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Sunaga, N.  et al. 2007	17368623				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Lung Cancer    2007	Phase II prospective study of the efficacy of gefitinib for the treatment of stage III/IV non-small cell lung cancer with EGFR mutations, irrespective of previous chemotherapy		131550		CDC	2007	Analysis of tumor EGFR mutations in patients with NSCLC could be used to identify patients suitable for treatment with gefitinib to obtain optimum response and disease control rates.		gefitinib									
147044		lung cancer	PHARMACOGENOMIC	PHARM		7	7p12	EGFR	55054218	55242525		Liu, G.  et al. 2007	17375033				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Pharmacogenomics J    2007	Epidermal growth factor receptor polymorphisms and clinical outcomes in non-small-cell lung cancer patients treated with gefitinib		131550		CDC	2007			gefitinib									
147045		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Satouchi, M.  et al. 2007	17387341				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Br J Cancer    2007	Predictive factors associated with prolonged survival in patients with advanced non-small-cell lung cancer (NSCLC) treated with gefitinib		131550		CDC	2007			smoking (tobacco)									
147046		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Argiris, A.  et al. 2006	17409827				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2006    1(1)    52-60	Combined analysis of molecular and clinical predictors of gefitinib activity in advanced non-small cell lung cancer		131550		CDC	2006	EGFR mutation-positive tumors are present in a small fraction of patients who achieve disease control with gefitinib. Other molecular markers, such as AKT, need to be further evaluated. Clinical parameters remain major determinants of gefitinib activity in NSCLC.		gefitinib									
147047	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Tsao, A. S.  et al. 2006	17409862				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Asian		CDC GDP info	1956	Hs.488293			J Thorac Oncol    2006    1(3)    231-9	Clinicopathologic characteristics of the EGFR gene mutation in non-small cell lung cancer		131550		CDC	2006	There is a distinct clinical profile for NSCLC patients with the EGFR mutation.											
147048		lung cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Kimura, H.  et al. 2006	17409866				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2006    1(3)    260-7	EGFR mutation of tumor and serum in gefitinib-treated patients with chemotherapy-naive non-small cell lung cancer		131550		CDC	2006	Gefitinib monotherapy in chemotherapy-naive NSCLC patients was active, with acceptable toxicities. These results warrant further evaluation of gefitinib monotherapy as a first-line therapy. The EGFR mutation in serum DNA may be a biomarker for monitoring the response to gefitinib during treatment.		gefitinib									
147049	Y	lung cancer	CANCER	CAN	Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Zhang, W.  et al. 2006	17409930				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2006    1(7)    635-47	Mutation and polymorphism in the EGFR-TK domain associated with lung cancer		131550		CDC	2006	EGFR-TK mutation frequency is high in never-smoking lung cancer patients and is exclusive of mutation in K-ras but not p53. In addition to somatic EGFR-TK mutations that arise in lung tumors, germline variation in the EGFR-TK domain might also be associated with an increased risk of lung cancer. Somatic EGFR-TK mutations alter cell biology and response to EGFR-TKIs and may be mutation specific.		smoking smoking (tobacco)									
147050		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Han, S. W.  et al. 2007	17429313			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Korean		CDC GDP info	1956	Hs.488293			Pharmacogenet Genomics    2007    17(5)    313-9	Intron 1 CA dinucleotide repeat polymorphism and mutations of epidermal growth factor receptor and gefitinib responsiveness in non-small-cell lung cancer		131550		CDC	2007	Low number of CA repeats in intron 1 of epidermal growth factor receptor is associated with gefitinib responsiveness in non-small-cell lung cancer patients independent of epidermal growth factor receptor mutation.		gefitinib									
147051		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Uramoto, H.  et al. 2007	17431338				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Asian		CDC GDP info	1956	Hs.488293			Gan To Kagaku Ryoho    2007    34(4)    538-43	Prediction of Effectiveness of EGFR Tyrosine Kinase Inhibitors for the Patients with by EGFR Mutations.		131550		CDC	2007												
147052	Y	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	7	7p12	EGFR	55054218	55242525		Tzeng, C. W.  et al. 2007	17453292			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Ann Surg Oncol    2007	Pancreatic Cancer Epidermal Growth Factor Receptor (EGFR) Intron 1 Polymorphism Influences Postoperative Patient Survival and in vitro Erlotinib Response		131550		CDC	2007	Shorter EGFR intron 1 CA repeat length is associated with worse pancreatic cancer clinical prognosis and in vitro response to erlotinib.											
147053		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Nomura, M.  et al. 2007	17455987				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	European;Mexican;Asian		CDC GDP info	1956	Hs.488293			PLoS Med    2007    4(4)    e125	Polymorphisms, Mutations, and Amplification of the EGFR Gene in Non-Small Cell Lung Cancers		131550		CDC	2007	The three polymorphisms associated with increased EGFR protein production (shorter CA-SSR1 length and variant forms of SNPs -216 and -191) were found to be rare in East Asians as compared to other ethnicities, suggesting that the cells of East Asians may make relatively less intrinsic EGFR protein. Interestingly, especially in tumors from patients of East Asian ethnicity, EGFR mutations were found to favor the shorter allele of CA-SSR1, and selective amplification of the shorter allele of CA-SSR1 occurred frequently in tumors harboring a mutation. These distinct molecular events targeting the same allele would both be predicted to result in greater EGFR protein production and/or activity. Our findings may help explain to some of the ethnic differences observed in mutational frequencies and responses to TK inhibitors.											
147054	N	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Cappuzzo, F.  et al. 2007	17473658				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2007    2(5)    423-9	EGFR and HER2 gene copy number and response to first-line chemotherapy in patients with advanced non-small cell lung cancer (NSCLC)		131550		CDC	2007			chemotherapy									
147055		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Wu, Y. L.  et al. 2007	17473659				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2007    2(5)    430-9	Epidermal growth factor receptor mutations and their correlation with gefitinib therapy in patients with non-small cell lung cancer		131550		CDC	2007	"In mainland China, ""adenocarcinoma"" and ""non-smoker"" are independent predictors for EGFR mutations. Response to gefitinib favors patients with EGFR mutations. The clinical selected populations for gefitinib are non-smokers with adenocarcinoma."		gefitinib smoking (tobacco)									
147056		lung cancer	CANCER	CAN		7	7p12	EGFR	55054218	55242525		Marks, J. L.  et al. 2007	17487277				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		131550		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
147057	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Soh, J.  et al. 2007	17487844				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Int J Cancer    2007	Impact of HER2 and EGFR gene status on gefitinib-treated patients with nonsmall-cell lung cancer		131550		CDC	2007	the drug-sensitive EGFR mutation, rather than HER2 and EGFR copy numbers, is a determinant of favorable clinical outcomes in gefitinib-treated patients with NSCLC, although the high HER2 copy number, to some extent, may influence the gefitinib effect. (c) 2007 Wiley-Liss, Inc.		gefitinib									
147058		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Ikeda, S.  et al. 2007	17493174				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Pathol Int    2007    57(5)    268-75	Correlation between EGFR gene mutation pattern and Akt phosphorylation in pulmonary adenocarcinomas		131550		CDC	2007												
147059		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	7	7p12	EGFR	55054218	55242525		Massarelli, E.  et al. 2007	17504988				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Clin Cancer Res    2007    13(10)    2890-2896	KRAS Mutation Is an Important Predictor of Resistance to Therapy with Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small-Cell Lung Cancer		131550		CDC	2007	KRAS mutation should be included as indicator of resistance in the panel of markers used to predict response to EGFR-TKIs in NSCLC.											
147060	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	7	7p12	EGFR	55054218	55242525		Temam, S.  et al. 2007	17538160				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Clin Oncol    2007    25(16)    2164-70	Epidermal growth factor receptor copy number alterations correlate with poor clinical outcome in patients with head and neck squamous cancer		131550		CDC	2007	A subset of HNSCC manifests EGFR copy number alterations, and this is associated with a poor clinical outcome, suggesting a biologic role of the alterations.											
147062	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	7	7p12	EGFR	55054218	55242525		Wang, W. S.  et al. 2007	17575224	EGFR   R497K			Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Clin Cancer Res    2007    13(12)    3597-604	Epidermal Growth Factor Receptor R497K Polymorphism Is a Favorable Prognostic Factor for Patients with Colorectal Carcinoma		131550		CDC	2007	These data suggest that the R497K polymorphism of the EGFR, by reducing its activation and a consequential down-regulation of its target genes, could be a key determinant for reduced tumor recurrence of stage II/III colorectal carcinoma patients receiving curative surgery and a longer survival of patients with stage II/III as well as metastatic colorectal carcinoma.											
147063		lung cancer	CANCER	CAN	Adenocarcinoma|Adenocarcinoma, Bronchiolo-Alveolar|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Sakuma, Y.  et al. 2007	17580276				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Am J Clin Pathol    2007    128(1)    100-8	Distinctive Evaluation of Nonmucinous and Mucinous Subtypes of Bronchioloalveolar Carcinomas in EGFR and K-ras Gene-Mutation Analyses for Japanese Lung Adenocarcinomas		131550		CDC	2007												
147064		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Nie, Q.  et al. 2007	17597605			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Eur J Pharmacol    2007	The epidermal growth factor receptor intron1 (CA) n microsatellite polymorphism is a potential predictor of treatment outcome in patients with advanced lung cancer treated with Gefitinib		131550		CDC	2007			gefitinib									
147066	Y	lung cancer	PHARMACOGENOMIC	PHARM		7	7p12	EGFR	55054218	55242525		Costa, D. B.  et al. 2007	17610986				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Lung Cancer    2007	Pooled analysis of the prospective trials of gefitinib monotherapy for EGFR-mutant non-small cell lung cancers		131550		CDC	2007	Gefitinib monotherapy leads to objective responses in most patients with EGFR mutations.		gefitinib									
147067	P	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	10	10q21.1	EGR2	64241762	64246133		Song, S.  et al. 2006	16912585				Early growth response 2 (Krox-20 homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000399.2			CDC GDP info	1959	Hs.1395			Genet Med    2006    8(8)    532-5	Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients		129010		CDC	2006	The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population.											
147068		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	9	9q34.3	EHMT1	139633264	139850399		Cebrian, A.  et al. 2006	16501248				Euchromatic histone-lysine N-methyltransferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB058779			CDC GDP info	79813	Hs.495511			Carcinogenesis    2006	Genetic variants in epigenetic genes and breast cancer risk		607001		CDC	2006												
147069		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	6	6p21.31	EHMT2	31955515	31973443		Cebrian, A.  et al. 2006	16501248				Euchromatic histone-lysine N-methyltransferase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209433			CDC GDP info	10919	Hs.695961			Carcinogenesis    2006	Genetic variants in epigenetic genes and breast cancer risk				CDC	2006												
147070		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	3	3q27.1	EIF2B5	185335503	185345793		Lucas, M.  et al. 2007	17439913				Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB208821			CDC GDP info	8893	Hs.283551			Mult Scler    2007    13(3)    424-7	Arg113His mutation of vanishing white matter is not present in multiple sclerosis		603945		CDC	2007												
147071		infertility, male	REPRODUCTION	REP	Infertility, Male	3	3q26.2	EIF5A2	172088897	172109120			16169419				Eukaryotic translation initiation factor 5A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY205261			CDC GDP info	56648	Hs.164144			Fertil Steril    2005    84(3)    758-60	Screening the SPO11 and EIF5A2 genes in a population of infertile men		605782		CDC	2005												
147072		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p34	ELAVL4	50286375	50439643		Haugarvoll, K.  et al. 2007	17230446				ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021952.2	Irish;Norwegian	Norway	CDC GDP info	1996	Hs.213050			Mov Disord    2007	ELAVL4, PARK10, and the Celts		168360		CDC	2007												
147073	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Mineharu, Y.  et al. 2006	16574921				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDP info	2006	Hs.252418			Stroke    2006	Association Analysis of Common Variants of ELN, NOS2A, APOE and ACE2 to Intracranial Aneurysm		130160		CDC	2006	Investigated polymorphisms in this study were not associated with IA.											
147074		brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Akagawa, H.  et al. 2006	16611674				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939	Japanese;Korean		CDC GDP info	2006	Hs.252418			Hum Mol Genet    2006	A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms		130160		CDC	2006												
147075		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q11.23	ELN	73080362	73122172		Iwai, N.  et al. 2006	16982955				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDP info	2006	Hs.252418			Hypertension    2006	Extensive Genetic Analysis of 10 Candidate Genes for Hypertension in Japanese		130160		CDC	2006												
147077	N	macular degeneration	VISION	VIS	Macular Degeneration	6	6q14	ELOVL4	80681247	80713941		Seitsonen, S.  et al. 2006	16885922				Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022726.2	Caucasian;Finnish		CDC GDP info	6785	Hs.101915			Mol Vis    2006    12    796-801	Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population		605512		CDC	2006	The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.											
147079		macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization	6	6q14	ELOVL4	80681247	80713941		Deangelis, M. M.  et al. 2007	17210851				Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022726.2			CDC GDP info	6785	Hs.101915			Arch Ophthalmol    2007    125(1)    49-54	Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular Degeneration		605512		CDC	2007	Smoking and having the CFH CC genotype independently increase risk of neovascular AMD.		smoking (tobacco)									
147080		schizencephaly	DEVELOPMENTAL	DEV		10	10q26.1	EMX2	119291945	119299043		Tietjen, I.  et al. 2007	17506092				Empty spiracles homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004098			CDC GDP info	2018	Hs.202095			Am J Med Genet A    2007    143A(12)    1313-1316	Comprehensive EMX2 genotyping of a large schizencephaly case series		600035		CDC	2007												
147081		endometriosis	REPRODUCTION	REP	Endometriosis	10	10q26.1	EMX2	119291945	119299043		Treloar, S. A.  et al. 2007	17563403				Empty spiracles homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004098			CDC GDP info	2018	Hs.202095			Mol Hum Reprod    2007	Variants in EMX2 and PTEN do not contribute to risk of endometriosis		600035		CDC	2007												
147082		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q36	EN2	154943584	154950287			16252243				Engrailed homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001427.2			CDC GDP info	2020	Hs.134989			Am J Hum Genet    2005    77(5)    851-68	Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus		131310		CDC	2005												
147083	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21.3	ENDOGL1	38512836	38541183		Moritani, M.  et al. 2007	17415550				Endonuclease G-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023235			CDC GDP info	9941	Hs.517897			Diabetologia    2007	Genetic association of single nucleotide polymorphisms in endonuclease G-like 1 gene with type 2 diabetes in a Japanese population		604051		CDC	2007	 Based on the population genetics, fine mapping of LD block and haplotype analysis, we conclude that ENDOGL1 is a candidate disease-susceptibility gene for type 2 diabetes in a Japanese population. Further analysis in a larger sample size is required to substantiate this 											
147085		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Telangiectasia, Hereditary Hemorrhagic|Chromosome Aberrations	9	9q33-q34.1	ENG	129617115	129656805		Bossler, A. D.  et al. 2006	16752392				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			CDC GDP info	2022	Hs.76753			Hum Mutat    2006    27(7)    667-675	Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT)		131195		CDC	2006												
147086	Y	arteriovenous dysplasias brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Central Nervous System Vascular Malformations|Arteriovenous Malformations	9	9q33-q34.1	ENG	129617115	129656805		Simon, M.  et al. 2006	16776339				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			CDC GDP info	2022	Hs.76753			J Neurosurg    2006    104(6)    945-9	Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system		131195		CDC	2006	The results of this study link ACVRL1 (HHT Type 2 gene) to the formation of the clinically sporadic variants of vascular malformations of the CNS most commonly seen in patients with HHT, that is, AVMs and DAVFs.											
147087	Y	pulmonary arterial hypertension sclerosis, systemic	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Scleroderma, Systemic	9	9q33-q34.1	ENG	129617115	129656805		Wipff, J.  et al. 2006	17166870				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	Caucasian;French		CDC GDP info	2022	Hs.76753			Rheumatology (Oxford)    2006	Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension		131195		CDC	2006	Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc.											
147090	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	6	6q22-q23	ENPP1	132170852	132254043		Keshavarz, P.  et al. 2006	16607460				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Japanese;Chinese;European		CDC GDP info	5167	Hs.527295			J Hum Genet    2006	No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population		173335		CDC	2006												
147091		ossification of spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Horikoshi, T.  et al. 2006	16609882				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Hum Genet    2006    119(6)    611-6	A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine		173335		CDC	2006												
147092	N	diabetes, type 2 insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Grarup, N.  et al. 2006	16865358				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Danish		CDC GDP info	5167	Hs.527295			Diabetologia    2006	Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects		173335		CDC	2006	 In a meta-analysis, the ENPP1 codon 121 Q allele associates with type 2 diabetes. However, a similar association was not found in the present study of Danish white subjects. The effect of this variant on obesity in Danish subjects is contentious and further study is needed.											
147093		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Bochenski, J.  et al. 2006	16936213	rs997509, in intron 1			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Polish		CDC GDP info	5167	Hs.527295			Diabetes    2006    55(9)    2626-30	New Polymorphism of ENPP1 (PC-1) Is Associated With Increased Risk of Type 2 Diabetes Among Obese Individuals	rs997509	173335		CDC	2006	we found a new SNP, rs997509, in intron 1 that is strongly associated with risk of type 2 diabetes in obese individuals.											
147094	N	atherosclerosis, generalized diabetes, type 2 hypertension obesity	CARDIOVASCULAR	CARD	Atherosclerosis|Hypertension|Diabetes Mellitus, Type 2|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Gouni-Berthold, I.  et al. 2006	16941279	ENPP1  K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Caucasian;German	Germany	CDC GDP info	5167	Hs.527295			Horm Metab Res    2006    38(8)    524-9	The K121Q Polymorphism of the Plasma Cell Glycoprotein-1 Gene is not Associated with Diabetes Mellitus Type 2 in German Caucasians		173335		CDC	2006												
147095	Y	glucose insulin obesity	METABOLIC	MET	Insulin Resistance|Obesity|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Bottcher, Y.  et al. 2006	16968801	K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Caucasian;German		CDC GDP info	5167	Hs.527295			J Clin Endocrinol Metab    2006	ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children		173335		CDC	2006	In conclusion, our study suggests a potential role of the K121Q polymorphism or derived ENPP1 haplotypes in increased susceptibility to obesity and early impairment of glucose and insulin metabolism in children.											
147096	Y	obesity	METABOLIC	MET	Insulin Resistance|Obesity|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Wan, C.  et al. 2006	17026496	ENPP1 K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Diabetes Obes Metab    2006    8(6)    703-708	Obesity risk associated with the K121Q polymorphism of the glycoprotein PC-1 gene		173335		CDC	2006	The observed genotype distributions revealed a significant association of PC-1 K121Q with obesity. PC-1 Q121 carriers are more likely to be insulin-resistant or get fatter in respect to KK subjects and carriers of the Q allele are at higher risk for the development of obesity in female.											
147097	N	chondrocalcinosis	METABOLIC	MET	Chondrocalcinosis|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Zhang, Y.  et al. 2006	17043047				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Caucasian		CDC GDP info	5167	Hs.527295			Rheumatology (Oxford)    2006	Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis		173335		CDC	2006	Polymorphisms of ENPP1 and TNAP are not major determinants of susceptibility to CC in the population studied.											
147098	N	diabetes, type 2 obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Weedon, M. N.  et al. 2006	17065358				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Diabetes    2006    55(11)    3175-9	No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians		173335		CDC	2006	we find no evidence that previously associated variants of ENPP1 are associated with type 2 diabetes or obesity in the U.											
147100	Y	metabolic syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Metabolic Diseases	6	6q22-q23	ENPP1	132170852	132254043		Tasic, I.  et al. 2006	17129580				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Caucasian		CDC GDP info	5167	Hs.527295			Clin Chim Acta    2006	The association of PC-1 (ENPP1) K121Q polymorphism with metabolic syndrome in patients with coronary heart disease		173335		CDC	2006	The findings of the present study support the hypothesis that the PC-1 (ENPP1) 121Q allele is associated with the genetic susceptibility for MS in patients with CHD. Further studies and more extensive research in this area are needed, not only to confirm this association, but to elucidate it in more details.											
147101	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6q22-q23	ENPP1	132170852	132254043		Willer, C. J.  et al. 2007	17192490				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		173335		CDC	2007												
147102	Y	body mass	METABOLIC	MET	Obesity|Obesity, Morbid|Genetic Predisposition to Disease	6	6q22-q23	ENPP1	132170852	132254043		Prudente, S.  et al. 2007	17228024	Q121/Q121			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Obesity (Silver Spring)    2007    15(1)    1-4	The Q121/Q121 Genotype of ENPP1/PC-1 Is Associated with Lower BMI in Non-diabetic Whites		173335		CDC	2007												
147103	Y	insulin left ventricular mass	METABOLIC	MET	Hypertrophy, Left Ventricular|Hypertension|Insulin Resistance	6	6q22-q23	ENPP1	132170852	132254043		Perticone, F.  et al. 2007	17367703	PC-1 K121Q			Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Nutr Metab Cardiovasc Dis    2007    17(3)    181-7	Role of PC-1 and ACE genes on insulin resistance and cardiac mass in never-treated hypertensive patients. Suggestive evidence for a digenic additive modulation		173335		CDC	2007	In hypertensive patients PC-1 K121Q and ACE I/D polymorphisms have an additive deleterious effect on insulin resistance and, consequently, on LVM, thus increasing the global cardiovascular risk. Identification of carriers of the at-risk genotypes may help set up prevention strategies to be specifically targeted at these patients.			ENPP1	K121Q	ACE	ACE I/D					
147104		diabetes, type 2 metabolic syndrome	METABOLIC	MET		6	6q22-q23	ENPP1	132170852	132254043		Chen, M. P.  et al. 2006	17476416				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Rev Diabet Stud    2006    3(1)    21-30	ENPP1 K121Q Polymorphism is not Related to Type 2 Diabetes Mellitus, Features of Metabolic Syndrome, and Diabetic Cardiovascular Complications in a Chinese Population		173335		CDC	2006												
147105	N	atherosclerosis, coronary cerebrovascular disease, ischemic diabetes, type 2 metabolic syndrome	CARDIOVASCULAR	CARD		6	6q22-q23	ENPP1	132170852	132254043		Chen, M. P.  et al. 2006	17491709				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Rev Diabet Stud    2006    3(1)    21-30	ENPP1 K121Q Polymorphism is not Related to Type 2 Diabetes Mellitus, Features of Metabolic Syndrome, and Diabetic Cardiovascular Complications in a Chinese Population		173335		CDC	2006	The ENPP1 K121Q polymorphism is not related to T2DM, features of the metabolic syndrome, or diabetic macrovascular complications in a Chinese population.		family history									
147107	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22		EP300	39818552	39906024		Wirtenberger, M.  et al. 2006	16704985				E1A binding protein p300	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001429.2			CDC GDP info	2033	Hs.517517			Carcinogenesis    2006	Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer		602700		CDC	2006												
147108		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		3	3q21-q23	EPHB1	135996949	136461997		Comings, D. E.  et al. 2000	11140838				EPH receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004441			CDC GDP info	2047	Hs.116092			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		600600		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147109	Y	colorectal cancer hyperplastic polyposis	CANCER	CAN	Colorectal Neoplasms|Prostatic Neoplasms|Precancerous Conditions|Intestinal Polyposis	1	1p36.1-p35	EPHB2	22909917	23114410		Kokko, A.  et al. 2006	16740153				EPH receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017449	Finnish		CDC GDP info	2048	Hs.523329			BMC Cancer    2006    6(1)    145	EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis		600997		CDC	2006	We detected novel germline EPHB2 alterations in patients with colorectal tumors.											
147110	P		CANCER	CAN	Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Yoshimura, K.  et al. 2003	14634838				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		132810		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
147112		DNA damage	OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884			16535827				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Wei Sheng Yan Jiu    2005    34(6)    655-7	Study on the relationship between DNA damage and polymorphisms of metabolizing enzymes of vinyl chloride monomer-exposed workers		132810		CDC	2005	Cumulative exposure dose and polymorphism of metabolizing enzymes may modulate the DNA damage of VCM-exposed workers. possessing the CYP2E1 c1c2 and c2c2 genotypes (OR 4.92, 95% CI 1.35-13.85 and OR 2.57, 95% CI 1.01-6.59).		vinyl-chloride									
147113		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884			16538176				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		132810		CDC	2006												
147114		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	1	1q42.1	EPHX1	224064453	224099884		Brogger, J.  et al. 2006	16585076				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian		CDC GDP info	2052	Hs.89649			Eur Respir J    2006    27(4)    682-8	Genetic association between COPD and polymorphisms in TNF, ADRB2 and EPHX1		132810		CDC	2006	the present data and meta-analysis support a role for microsomal epoxide hydroxylase in the aetiology of chronic obstructive pulmonary disease.											
147115		brain cancer	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		De Roos, A. J.  et al. 2006	16598069				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Neuro-oncol    2006    8(2)    145-55	Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors		132810		CDC	2006			smoking (tobacco)									
147117		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Tobacco Use Disorder	1	1q42.1	EPHX1	224064453	224099884		Nock, N. L.  et al. 2006	16614120				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian		CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2006    15(4)    756-61	Polymorphisms in polycyclic aromatic hydrocarbon metabolism and conjugation genes, interactions with smoking and prostate cancer risk		132810		CDC	2006			smoking (tobacco)									
147118		malignant mesothelioma	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Neri, M.  et al. 2006	16697254				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Finnish;Italian		CDC GDP info	2052	Hs.89649			Int J Hyg Environ Health    2006    209(4)    393-8	Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk		132810		CDC	2006												
147119		colon polyps	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Goode, E. L.  et al. 2006	16926176				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian		CDC GDP info	2052	Hs.89649			Carcinogenesis    2006	Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps		132810		CDC	2006			meat smoking (tobacco)									
147120		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1q42.1	EPHX1	224064453	224099884		De Roos, A. J.  et al. 2006	16985026				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	non-Hispanic		CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		132810		CDC	2006												
147122		phenanthrene metabolite ratios, urinary	METABOLIC	MET	Lung Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Hecht, S. S.  et al. 2006	17035385				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1805-11	Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers		132810		CDC	2006												
147123		warfarin sensitivity	PHARMACOGENOMIC	PHARM		1	1q42.1	EPHX1	224064453	224099884		Wadelius, M.  et al. 2006	17048007				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		132810		CDC	2006												
147124		cytogenetic studies	OTHER	OTH		1	1q42.1	EPHX1	224064453	224099884		Laczmanska, I.  et al. 2006	17078101				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		132810		CDC	2006												
147125	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Mitrou, P. N.  et al. 2006	17082176				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Carcinogenesis    2006	Role of NQO1C609T and EPHX1 gene polymorphisms in the association of smoking and alcohol with sporadic distal colorectal adenomas		132810		CDC	2006			alcohol smoking (tobacco)									
147126	Y	asbestosis or pleural plaques	OTHER	OTH	Asbestosis|Occupational Diseases|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Horska, A.  et al. 2006	17159790	GSTP1*105Val			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Neuro Endocrinol Lett    2006    27(Suppl2)    100-103	Genetic predisposition and health effect of occupational exposure to asbestos		132810		CDC	2006	Our results suggest that GSTP1*105Val allele and low EPHX1 activity genotype may be protective for people occupationally exposed to asbestos. However, more extensive studies are needed to confirm our results.											
147127		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Agudo, A. et.al.  et al. 2006	17164366				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	European	Europe	CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2427-34	Polymorphisms in metabolic genes related to tobacco smoke and the risk of gastric cancer in the European prospective investigation into cancer and nutrition		132810		CDC	2006			smoking (tobacco)									
147129		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	1	1q42.1	EPHX1	224064453	224099884		Fu, W. P.  et al. 2007	17203192				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Oncol Rep    2007    17(2)    483-8	Relationship between COPD and polymorphisms of HOX-1 and mEPH in a Chinese population		132810		CDC	2007												
147130	N	preeclampsia	REPRODUCTION	REP	HELLP Syndrome|Pre-Eclampsia|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Pinarbasi, E.  et al. 2007	17212663				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Turkish		CDC GDP info	2052	Hs.89649			J Obstet Gynaecol Res    2007    33(1)    32-7	Association of microsomal epoxide hydrolase gene polymorphism and pre-eclampsia in Turkish women		132810		CDC	2007	Although we could not find any association between genetic variability in exon 3 and 4 of EPHX and pre-eclampsia, genetic variability in these two exons jointly modifies the predicted enzyme activity and may be a risk factor for pre-eclampsia.											
147132		chronic obstructive pulmonary disease/COPD emphysema	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Emphysema	1	1q42.1	EPHX1	224064453	224099884		Demeo, D. L.  et al. 2007	17363767				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Am J Respir Crit Care Med    2007	Genetic Determinants of Emphysema Distribution in the National Emphysema Treatment Trial		132810		CDC	2007	Apical and basal emphysematous destruction appears to be influenced by different genes.											
147133			NORMALVARIATION	NV		1	1q42.1	EPHX1	224064453	224099884		Ada, A. O.  et al. 2007	17365145				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian;European;Turkish		CDC GDP info	2052	Hs.89649			Int J Toxicol    2007    26(1)    41-6	Polymorphisms of Microsomal Epoxide Hydrolase and Glutathione S-transferase P1 in a Male Turkish Population		132810		CDC	2007												
147134		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Cornelis, M. C.  et al. 2007	17380322				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Arch Toxicol    2007	Microsomal epoxide hydrolase genotype and risk of myocardial infarction		132810		CDC	2007			smoking (tobacco)									
147135		PAH-DNA adducts	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Binkova, B.  et al. 2007	17412371				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		132810		CDC	2007												
147136		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Spurdle, A. B.  et al. 2007	17416769				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Australian;Caucasian	Australia	CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2007    16(4)    769-74	A Systematic Approach to Analysing Gene-Gene Interactions		132810		CDC	2007	Detoxification gene polymorphisms may interact with each other to result in small groups of individuals at modestly increased risk.											
147137		2-hydroxyethyl mercapturic acid	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Haufroid, V.  et al. 2007	17416773				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2007    16(4)    796-802	Exposure to ethylene oxide in hospitals		132810		CDC	2007			ethylene oxide									
147138		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Dick, F.  et al. 2007	17449559				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	European		CDC GDP info	2052	Hs.89649			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		132810		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
147139	N	1-hydroxypyrene, urinary	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Chen, B.  et al. 2007	17498780				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		132810		CDC	2007												
147140		1-hydroxypyrene, urinary OH-phenanthrenes	METABOLIC	MET		1	1q42.1	EPHX1	224064453	224099884		Rihs, H. P.  et al. 2007	17503272				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			J Occup Environ Hyg    2007    4 Suppl 1    65-71	Determination of sequence variants of metabolizing enzymes after occupational exposure to fumes of bitumen under high processing temperatures		132810		CDC	2007			bitumen									
147142	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Vibhuti, A.  et al. 2007	17532303	113H/139H alleles of mEPHX			Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Biochem Biophys Res Commun    2007	Genetic polymorphisms of GSTP1 and mEPHX correlate with oxidative stress markers and lung function in COPD		132810		CDC	2007	105V/114V alleles of GSTP1 and 113H/139H alleles of mEPHX and the combination of genotypes with same alleles associated with imbalanced oxidative stress and lung function in patients, signifying the importance in the disease.											
147143		1-hydroxypyrene, urinary Cytogenetic studies	METABOLIC	MET	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Qiu, L.  et al. 2007	17548684				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1193-9	Path Analysis of Biomarkers of Exposure and Early Biological Effects among Coke-Oven Workers Exposed to Polycyclic Aromatic Hydrocarbons		132810		CDC	2007	the path analysis seemed to be an alternative statistical approach for the ascertainment of complicated association among related biomarkers for the assessment of occupational exposure.											
147145	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	1	1q42.1	EPHX1	224064453	224099884		Matheson, M. C.  et al. 2006	17564249				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2		Victoria	CDC GDP info	2052	Hs.89649			Hum Biol    2006    78(6)    705-17	Microsomal epoxide hydrolase is not associated with COPD in a community-based sample		132810		CDC	2006												
147147		DNA damage	OTHER	OTH	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Novotna, B.  et al. 2007	17590289				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Toxicol Lett    2007	Impact of air pollution and genotype variability on DNA damage in Prague policemen		132810		CDC	2007			polycyclic aromatic hydrocarbons vitamin C									
147148	N	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	1	1q42.1	EPHX1	224064453	224099884		Ramirez, D.  et al. 2007	17608547				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Cleft Palate Craniofac J    2007    44(4)    366-73	Maternal Smoking During Early Pregnancy, GSTP1 and EPHX1 Variants, and Risk of Isolated Orofacial Clefts		132810		CDC	2007	Our results suggest that genetic variation of the detoxification enzymes EPHX1 and GSTP1 did not increase the risks of orofacial clefting, nor do they influence the risks associated with maternal smoking.		smoking (tobacco), maternal									
147149		head and neck cancer	CANCER	CAN		1	1q42.1	EPHX1	224064453	224099884		Boccia, S.  et al. 2007	17611777				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		132810		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
147151		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	8	8p21-p12	EPHX2	27404561	27458403			16545818				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			CDC GDP info	2053	Hs.212088			Atherosclerosis    2006	Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis		132811		CDC	2006												
147152	N	1-hydroxypyrene, urinary	METABOLIC	MET		8	8p21-p12	EPHX2	27404561	27458403		Chen, B.  et al. 2007	17498780				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			CDC GDP info	2053	Hs.212088			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		132811		CDC	2007												
147153	N	myopia	VISION	VIS	Myopia|Genetic Predisposition to Disease	12	12q21	EPYC	89881589	89922934		Wang, I. J.  et al. 2006	16902402				Epiphycan	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004950			CDC GDP info	1833	Hs.435680			Mol Vis    2006    12    852-7	The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan				CDC	2006	Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.											
147154	Y	breast cancer colorectal cancer stomach cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Lee, J. W.  et al. 2006	16397024				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			Clin Cancer Res    2006    12(1)    57-61	Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas		164870		CDC	2006	This study showed that in addition to lung adenocarcinomas, ERBB2 kinase domain mutation occurs in other common human cancers such as gastric, breast, and colorectal cancers, and suggested that alterations of ERBB2-mediated signaling pathway by ERBB2 mutations alone or together with K-RAS mutations may contribute to the development of human cancers.											
147155		cervical cancer	CANCER	CAN	Papillomavirus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Ueda, M.  et al. 2006	16445653				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2		Japan	CDC GDP info	2064	Hs.446352			Int J Gynecol Cancer    2006    16(1)    325-8	HER-2 codon 655 polymorphism in cervical carcinogenesis		164870		CDC	2006			Helicobacter pylori									
147156		stomach cancer	CANCER	CAN	Carcinoma, Adenosquamous|Stomach Neoplasms|Gastritis|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Satiroglu-Tufan, N. L.  et al. 2006	16718853				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Turkish		CDC GDP info	2064	Hs.446352			World J Gastroenterol    2006    12(20)    3283-7	Investigation of HER-2 codon 655 single nucleotide polymorphism frequency and c-ErbB-2 protein expression alterations in gastric cancer patients		164870		CDC	2006	These observations imply that the tested HER-2 SNP may participate in the development and progression of gastric cancer. Thus, after confirming these results with large sample groups, HER-2 codon 655 SNP and/or c-erbB-2 overexpression may also be used as a poor prognostic indicator for gastric carcinomas.											
147157	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Benusiglio, P. R.  et al. 2006	17117180				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		164870		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
147158	N	breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Einarsdottir, K.  et al. 2006	17132159				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			Breast Cancer Res    2006    8(6)    R67	Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival		164870		CDC	2006	Our results indicate that common variants in the ATM, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined breast cancer.											
147159		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Einarsdottir, K.  et al. 2006	17164260				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			Hum Mol Genet    2006	Effect of ATM, CHEK2 and ERBB2 tagSNPs and haplotypes on endometrial cancer risk		164870		CDC	2006	it is possible that common variants in the ATM and CHEK2 genes, in interaction with oestrogen-related exposures, are involved in endometrial cancer aetiology.		smoking (tobacco)									
147160		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Bae, N. C.  et al. 2007	17321325				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Korean		CDC GDP info	2064	Hs.446352			Cancer Genet Cytogenet    2007    173(2)    107-13	EGFR, ERBB2, and KRAS mutations in Korean non-small cell lung cancer patients		164870		CDC	2007												
147161	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	ERBB2	35097918	35138441		Tommasi, S.  et al. 2007	17452776				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2	Caucasian		CDC GDP info	2064	Hs.446352			Cell Oncol    2007    29(3)    241-8	655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations		164870		CDC	2007	these findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes and to the need of deeply investigate different gene SNPs association for risk defining.		family history									
147162	N	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	17	17q11.2-q12	ERBB2	35097918	35138441		Cappuzzo, F.  et al. 2007	17473658				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			J Thorac Oncol    2007    2(5)    423-9	EGFR and HER2 gene copy number and response to first-line chemotherapy in patients with advanced non-small cell lung cancer (NSCLC)		164870		CDC	2007			chemotherapy									
147164		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17q11.2-q12	ERBB2	35097918	35138441		Soh, J.  et al. 2007	17487844				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			Int J Cancer    2007	Impact of HER2 and EGFR gene status on gefitinib-treated patients with nonsmall-cell lung cancer		164870		CDC	2007	the drug-sensitive EGFR mutation, rather than HER2 and EGFR copy numbers, is a determinant of favorable clinical outcomes in gefitinib-treated patients with NSCLC, although the high HER2 copy number, to some extent, may influence the gefitinib effect. (c) 2007 Wiley-Liss, Inc.		gefitinib									
147165	N	schizophrenia	PSYCH	PSY	Schizophrenia	12	12q13	ERBB3	54760158	54783395		Kanazawa, T.  et al. 2006	16958035				V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001982.2			CDC GDP info	2065	Hs.118681			Am J Med Genet B Neuropsychiatr Genet    2006	Schizophrenia is not associated with the functional candidate gene ERBB3		190151		CDC	2006												
147166	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12q13	ERBB3	54760158	54783395		Watanabe, Y.  et al. 2007	17275115				V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001982.2		Japan	CDC GDP info	2065	Hs.118681			Neurosci Res    2007	No association between the ERBB3 gene and schizophrenia in a Japanese population		190151		CDC	2007												
147168		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q33.3-q34	ERBB4	211948686	213111597		Georgieva, L.  et al. 2006	16891421				V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005235.1			CDC GDP info	2066	Hs.390729			Proc Natl Acad Sci U S A    2006    103(33)    12469-74	Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia		600543		CDC	2006												
147169		lung cancer	CANCER	CAN		2	2q33.3-q34	ERBB4	211948686	213111597		Marks, J. L.  et al. 2007	17487277				V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005235.1			CDC GDP info	2066	Hs.390729			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		600543		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
147170	Y	schizophrenia	PSYCH	PSY		2	2q33.3-q34	ERBB4	211948686	213111597		Benzel, I.  et al. 2007	17598910				V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005235.1			CDC GDP info	2066	Hs.390729			Behav Brain Funct    2007    3(1)    31	Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia		600543		CDC	2007	These new findings suggest that observed associations between NRG1 and schizophrenia may be mediated through functional interaction not just with ERBB4, but with other members of the NRG and ERBB families.			ERBB4		NRG2; NRG3						
147171			NORMALVARIATION	NV		19	19q13.2-q13.3	ERCC1	50604711	50673926		Hamajima, N.  et al. 2002	12164325				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		126380		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
147172		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926			16407418				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		126380		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
147173		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	19	19q13.2-q13.3	ERCC1	50604711	50673926		Monzo, M.  et al. 2006	16507781				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	French		CDC GDP info	2067	Hs.435981			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		126380		CDC	2006			chemotherapy									
147175		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926			16537713				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1		Spain	CDC GDP info	2067	Hs.435981			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		126380		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
147176		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Moreno, V.  et al. 2006	16609022				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		126380		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
147177		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Ruzzo, A.  et al. 2006	16622263				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		126380		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
147178		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Vogel, U.  et al. 2006	16690207				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Cancer Lett    2006	Gene-environment interactions between smoking and a haplotype of RAI, ASE-1 and ERCC1 polymorphisms among women in relation to risk of lung cancer in a population-based study		126380		CDC	2006			smoking (tobacco)									
147180	N	colorectal cancer	CANCER	CAN	Adenoma|Carcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Skjelbred, C. F.  et al. 2006	16817948				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Norwegian		CDC GDP info	2067	Hs.435981			BMC Cancer    2006    6(1)    175	Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas		126380		CDC	2006	We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women.											
147181	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Progression	19	19q13.2-q13.3	ERCC1	50604711	50673926		Kang, S.  et al. 2006	16819291				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Exp Mol Med    2006    38(3)    320-324	Association between excision repair cross-complementation group 1 polymorphism and clinical outcome of platinum-based chemotherapy in patients with epithelial ovarian cancer		126380		CDC	2006			chemotherapy, platinum-based									
147182	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Chung, H. H.  et al. 2006	16875718				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		126380		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
147183		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Quintela-Fandino, M.  et al. 2006	16896002				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			J Clin Oncol    2006	DNA-Repair Gene Polymorphisms Predict Favorable Clinical Outcome Among Patients With Advanced Squamous Cell Carcinoma of the Head and Neck Treated With Cisplatin-Based Induction Chemotherapy		126380		CDC	2006	Using a multivariate model, the presence of polymorphic variants in DNA-repair genes are powerful prognosis factors and response to cisplatin predictors among SCCHN patients.											
147184		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Carles, J.  et al. 2006	16979838				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Int J Radiat Oncol Biol Phys    2006	Single-nucleotide polymorphisms in base excision repair, nucleotide excision repair, and double strand break genes as markers for response to radiotherapy in patients with Stage I to II head-and-neck cancer		126380		CDC	2006	Patients were 101 men (93.		radiation									
147186		cytogenetic studies	OTHER	OTH		19	19q13.2-q13.3	ERCC1	50604711	50673926		Laczmanska, I.  et al. 2006	17078101				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		126380		CDC	2006												
147187	N	multiple myeloma	CANCER	CAN	Multiple Myeloma	19	19q13.2-q13.3	ERCC1	50604711	50673926		Vangsted, A.  et al. 2006	17131345				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Int J Cancer    2006	Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation		126380		CDC	2006												
147188		drug hypersensitivity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.2-q13.3	ERCC1	50604711	50673926		Kuptsova, N.  et al. 2006	17197435				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Blood    2006	Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials		126380		CDC	2006			chemotherapy									
147190	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Su, D.  et al. 2007	17222938				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Lung Cancer    2007	Genetic polymorphisms and treatment response in advanced non-small cell lung cancer		126380		CDC	2007	We found that SNPs in ERCC1 and iASPP were associated with response to chemotherapy or combined chemotherapy and radiotherapy in NSCLC patients.		chemotherapy radiation									
147191		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Kiyohara, C.  et al. 2007	17299578				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Int J Med Sci    2007    4(2)    59-71	Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk		126380		CDC	2007												
147192		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Park, S. Y.  et al. 2006	17303907				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Med Oncol    2006    23(4)    489-98	Effect of ERCC1 Polymorphisms and the Modification by Smoking on the Survival of Non-Small Cell Lung Cancer Patients		126380		CDC	2006			cisplatin smoking (tobacco)									
147193	Y	chromosomal damage	OTHER	OTH		19	19q13.2-q13.3	ERCC1	50604711	50673926		Cheng, J.  et al. 2006	17313739	ERCC1 C19007T			Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    400-4	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers.		126380		CDC	2006	Our results suggested that polymorphisms of ERCC1 C19007T, ERCC6 A3368G and ERCC2 G23591A were associated with the CBMN frequencies in coke-oven workers.											
147194	N	endometrial cancer ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Endometrial Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Jo, H.  et al. 2007	17314486	C19007T ERCC1			Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Korean		CDC GDP info	2067	Hs.435981			Gynecol Obstet Invest    2007    64(2)    84-88	The C19007T Polymorphism of ERCC1 and Its Correlation with the Risk of Epithelial Ovarian and Endometrial Cancer in Korean Women. A Case Control Study		126380		CDC	2007	Our findings suggest that the C19007T ERCC1 polymorphism is unlikely to play an important role in epithelial ovarian or endometrial cancer in Korean women.											
147195		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Ruzzo, A.  et al. 2007	17401013				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		126380		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
147196	Y	chromosomal damage	OTHER	OTH	Chromosome Aberrations	19	19q13.2-q13.3	ERCC1	50604711	50673926		Cheng, J.  et al. 2007	17438655				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Biomarkers    2007    12(1)    76-86	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers		126380		CDC	2007			polycyclic aromatic hydrocarbons									
147197	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Ma, H.  et al. 2007	17502833				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Pharmacogenet Genomics    2007    17(6)    417-423	Tagging single nucleotide polymorphisms in excision repair cross-complementing group 1 (ERCC1) and risk of primary lung cancer in a Chinese population		126380		CDC	2007	These findings indicate that ERCC1 polymorphisms may contribute to the etiology of lung cancer.											
147198	N	cancer	CANCER	CAN	Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Li, Y.  et al. 2007	17522621	ERCC1 C8092A and T19007C			Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Caucasian;European		CDC GDP info	2067	Hs.435981			Eur J Hum Genet    2007	No association of ERCC1 C8092A and T19007C polymorphisms to cancer risk		126380		CDC	2007												
147200	N	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Ruzzo, A.  et al. 2007	17617021				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		126380		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
147202		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016			16407418				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		126340		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
147203		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Wu, X.  et al. 2006	16465622				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Am J Hum Genet    2006    78(3)    464-79	Bladder Cancer Predisposition		126340		CDC	2006			smoking (tobacco)									
147204		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Dufloth, R. M.  et al. 2005	16475125				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Genet Mol Res    2005    4(4)    771-82	DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil		126340		CDC	2005			family history									
147206		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	19	19q13.3	ERCC2	50546685	50566016		Monzo, M.  et al. 2006	16507781				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	French		CDC GDP info	2068	Hs.487294			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		126340		CDC	2006			chemotherapy									
147207		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016			16537713				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		Spain	CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		126340		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
147208	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Ye, W.  et al. 2006	16571649	ERCC2 751 Gln			Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Carcinogenesis    2006	The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma. A population-based case-control study in Sweden		126340		CDC	2006												
147209		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Moreno, V.  et al. 2006	16609022				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		126340		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
147210		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Ruzzo, A.  et al. 2006	16622263				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		126340		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
147211	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Damaraju, S.  et al. 2006	16638864				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		126340		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
147213		sarcoma	CANCER	CAN	Sarcoma	19	19q13.3	ERCC2	50546685	50566016		Le Morvan, V.  et al. 2006	16646069				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Int J Cancer    2006	Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients		126340		CDC	2006												
147214		bladder cancer, p53 mutation in	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Stern, M. C.  et al. 2006	16652373				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Mol Carcinog    2006	DNA repair gene polymorphisms and probability of p53 mutation in bladder cancer		126340		CDC	2006												
147215		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Onay, V. U.  et al. 2006	16672066				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		126340		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
147217	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Dogru-Abbasoglu, S.  et al. 2006	16806697				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Neurosci Lett    2006	Polymorphisms in the DNA repair genes XPD (ERCC2) and XPF (ERCC4) are not associated with sporadic late-onset Alzheimer's disease		126340		CDC	2006												
147218	N	breast cancer	CANCER	CAN	Breast Neoplasms|Xeroderma Pigmentosum|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Jorgensen, T. J.  et al. 2006	16823510				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Breast Cancer Res Treat    2006	Breast Cancer Risk is not Associated with Polymorphic Forms of Xeroderma Pigmentosum Genes in a Cohort of Women from Washington County, Maryland		126340		CDC	2006	These results suggest that polymorphisms of XP genes are not likely to be significant risk factors for women within the general population.		family history									
147219		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Hu, Z.  et al. 2006	16835333				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2		China	CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2006    15(7)    1336-40	Polymorphisms in the Two Helicases ERCC2/XPD and ERCC3/XPB of the Transcription Factor IIH Complex and Risk of Lung Cancer		126340		CDC	2006			family history smoking (tobacco)									
147220		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Yuan, P.  et al. 2006	16875604				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Zhonghua Zhong Liu Za Zhi    2006    28(3)    196-9	XRCC1 and XPD genetic polymorphisms predict clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer		126340		CDC	2006	Those results suggest that the XRCC1 Arg194Trp and XPD Lys751Gln genetic polymorphisms may be associated with clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer.		chemotherapy									
147221	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Chung, H. H.  et al. 2006	16875718				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		126340		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
147222	Y	benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Huang, H. L.  et al. 2006	16889696	ERCC2  751Gln variant allele			Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(7)    390-3	Association between polymorphisms of XPD gene and susceptibility to chronic benzene poisoning.		126340		CDC	2006	The subjects with XPD 751Gln variant allele are more susceptive to benzene.											
147223		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Quintela-Fandino, M.  et al. 2006	16896002				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Clin Oncol    2006	DNA-Repair Gene Polymorphisms Predict Favorable Clinical Outcome Among Patients With Advanced Squamous Cell Carcinoma of the Head and Neck Treated With Cisplatin-Based Induction Chemotherapy		126340		CDC	2006	Using a multivariate model, the presence of polymorphic variants in DNA-repair genes are powerful prognosis factors and response to cisplatin predictors among SCCHN patients.											
147224	N	DNA repair capacity	CANCER	CAN	Breast Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Shen, J.  et al. 2006	16985021				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1614-9	Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer		126340		CDC	2006	there were no statistically significant differences in average DRC for most of the genotypes.		smoking (tobacco)									
147225		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Breast Cancer Association, = Consortium  et al. 2006	17018785				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		126340		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
147226		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Chromosome Deletion|Acute Disease|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Smith, A. G.  et al. 2006	17023576				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Blood    2006	A common genetic variant in XPD associates with risk of 5q and 7q deleted acute myeloid leukemia		126340		CDC	2006			chromosomal deletion									
147228		cytogenetic studies	OTHER	OTH		19	19q13.3	ERCC2	50546685	50566016		Laczmanska, I.  et al. 2006	17078101				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		126340		CDC	2006												
147229	Y	multiple myeloma	CANCER	CAN	Multiple Myeloma	19	19q13.3	ERCC2	50546685	50566016		Vangsted, A.  et al. 2006	17131345				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Int J Cancer    2006	Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation		126340		CDC	2006												
147231		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Li, C.  et al. 2006	17164380				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	non-Hispanic		CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2526-32	Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and Risk of Cutaneous Melanoma		126340		CDC	2006												
147232	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Yeh, C. C.  et al. 2006	17191090				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		126340		CDC	2006												
147233		drug hypersensitivity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.3	ERCC2	50546685	50566016		Kuptsova, N.  et al. 2006	17197435				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Blood    2006	Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials		126340		CDC	2006			chemotherapy									
147235		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Kiyohara, C.  et al. 2007	17299578				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Int J Med Sci    2007    4(2)    59-71	Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk		126340		CDC	2007												
147236	Y	chromosomal damage	OTHER	OTH		19	19q13.3	ERCC2	50546685	50566016		Cheng, J.  et al. 2006	17313739	ERCC2 G23591A			Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    400-4	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers.		126340		CDC	2006	Our results suggested that polymorphisms of ERCC1 C19007T, ERCC6 A3368G and ERCC2 G23591A were associated with the CBMN frequencies in coke-oven workers.											
147237	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Hansen, R. D.  et al. 2007	17363013				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Danish		CDC GDP info	2068	Hs.487294			Mutat Res    2007	XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer		126340		CDC	2007	the results of the present study indicate that the four polymorphisms are not of major importance in colorectal cancer carcinogenesis.		alcohol meat smoking (tobacco)									
147238		p53 alterations	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	19	19q13.3	ERCC2	50546685	50566016		Sakano, S.  et al. 2006	17374967				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Pathobiology    2006    73(6)    295-303	Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer		126340		CDC	2006	Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.											
147239		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Ruzzo, A.  et al. 2007	17401013				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		126340		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
147240		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	19	19q13.3	ERCC2	50546685	50566016		Pillot, G. A.  et al. 2006	17409981				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		126340		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
147241		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Petty, W. J.  et al. 2007	17410042				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			J Thorac Oncol    2007    2(3)    197-202	A pharmacogenomic study of docetaxel and gemcitabine for the initial treatment of advanced non-small cell lung cancer		126340		CDC	2007	This regimen of docetaxel and gemcitabine is well tolerated and active for the treatment of advanced non-small cell lung cancer. The impact of XPD polymorphisms on hematologic toxicity is similar to what has been reported for platinum-based chemotherapy.		docetaxel gemcitabine									
147242		PAH-DNA adducts	METABOLIC	MET		19	19q13.3	ERCC2	50546685	50566016		Binkova, B.  et al. 2007	17412371				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		126340		CDC	2007												
147243	Y	chromosomal damage	OTHER	OTH	Chromosome Aberrations	19	19q13.3	ERCC2	50546685	50566016		Cheng, J.  et al. 2007	17438655				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Biomarkers    2007    12(1)    76-86	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers		126340		CDC	2007			polycyclic aromatic hydrocarbons									
147244		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	19	19q13.3	ERCC2	50546685	50566016		Sanyal, S.  et al. 2007	17438703				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Acta Oncol    2007    46(1)    31-41	Polymorphisms in XPD, XPC and the risk of death in patients with urinary bladder neoplasms		126340		CDC	2007												
147246		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		De Ruyck, K.  et al. 2007	17531525				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Caucasian		CDC GDP info	2068	Hs.487294			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		126340		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
147247		1-hydroxypyrene, urinary Cytogenetic studies	METABOLIC	MET	DNA Damage	19	19q13.3	ERCC2	50546685	50566016		Qiu, L.  et al. 2007	17548684				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1193-9	Path Analysis of Biomarkers of Exposure and Early Biological Effects among Coke-Oven Workers Exposed to Polycyclic Aromatic Hydrocarbons		126340		CDC	2007	the path analysis seemed to be an alternative statistical approach for the ascertainment of complicated association among related biomarkers for the assessment of occupational exposure.											
147248		colorectal cancer	PHARMACOGENOMIC	PHARM		19	19q13.3	ERCC2	50546685	50566016		Ruzzo, A.  et al. 2007	17549067				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		126340		CDC	2007			5-flurouracil Irinotecan									
147249		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Wang, Y.  et al. 2007	17575242				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		126340		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
147250	N	benzene toxicity	PHARMACOGENOMIC	PHARM		19	19q13.3	ERCC2	50546685	50566016		Xu, J. N.  et al. 2007	17605237				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Zhonghua Yu Fang Yi Xue Za Zhi    2007    41(2)    114-7	Analysis for the association between genetic polymorphisms of XRCC1, XPD, XRCC3, CCND1 and the latency of the occupational chronic benzene poisoning		126340		CDC	2007	The polymorphisms of XRCC1 and CCND1 potentially modify the latency of the chronic benzene poisoning among workers exposed to benzene.											
147252		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	2	2q21	ERCC3	127731335	127768222		Hu, Z.  et al. 2006	16835333				Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000122.1		China	CDC GDP info	2071	Hs.469872			Cancer Epidemiol Biomarkers Prev    2006    15(7)    1336-40	Polymorphisms in the Two Helicases ERCC2/XPD and ERCC3/XPB of the Transcription Factor IIH Complex and Risk of Lung Cancer		133510		CDC	2006			family history smoking (tobacco)									
147253		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Mechanic, L. E.  et al. 2006	16399771				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		133520		CDC	2006			smoking (tobacco)									
147254	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Huang, W. Y.  et al. 2006	16492920				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		133520		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
147255		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705			16537713				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1		Spain	CDC GDP info	2072	Hs.567265			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		133520		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
147256		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Moreno, V.  et al. 2006	16609022				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		133520		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
147257	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Damaraju, S.  et al. 2006	16638864				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		133520		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
147259	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Dogru-Abbasoglu, S.  et al. 2006	16806697				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Neurosci Lett    2006	Polymorphisms in the DNA repair genes XPD (ERCC2) and XPF (ERCC4) are not associated with sporadic late-onset Alzheimer's disease		133520		CDC	2006												
147260	N	breast cancer	CANCER	CAN	Breast Neoplasms|Xeroderma Pigmentosum|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Jorgensen, T. J.  et al. 2006	16823510				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Breast Cancer Res Treat    2006	Breast Cancer Risk is not Associated with Polymorphic Forms of Xeroderma Pigmentosum Genes in a Cohort of Women from Washington County, Maryland		133520		CDC	2006	These results suggest that polymorphisms of XP genes are not likely to be significant risk factors for women within the general population.		family history									
147261		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Milne, R. L.  et al. 2006	17018596				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1	Spanish;European;Finnish		CDC GDP info	2072	Hs.567265			Cancer Res    2006    66(19)    9420-7	ERCC4 Associated with Breast Cancer Risk		133520		CDC	2006												
147262		cytogenetic studies	OTHER	OTH		16	16p13.3-p13.11	ERCC4	13921523	13949705		Laczmanska, I.  et al. 2006	17078101				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		133520		CDC	2006												
147263		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Povey, J. E.  et al. 2007	17210993				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1	Scottish		CDC GDP info	2072	Hs.567265			Carcinogenesis    2007	DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma		133520		CDC	2007												
147265	N	chromosomal damage	OTHER	OTH		16	16p13.3-p13.11	ERCC4	13921523	13949705		Cheng, J.  et al. 2006	17313739				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    400-4	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers.		133520		CDC	2006	Our results suggested that polymorphisms of ERCC1 C19007T, ERCC6 A3368G and ERCC2 G23591A were associated with the CBMN frequencies in coke-oven workers.											
147266	N	chromosomal damage	OTHER	OTH	Chromosome Aberrations	16	16p13.3-p13.11	ERCC4	13921523	13949705		Cheng, J.  et al. 2007	17438655				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Biomarkers    2007    12(1)    76-86	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers		133520		CDC	2007			polycyclic aromatic hydrocarbons									
147267		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Wang, Y.  et al. 2007	17575242				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		133520		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
147269	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	13	13q22	ERCC5	102249399	102326346		Huang, W. Y.  et al. 2006	16492920				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		133530		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
147270		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	13	13q22	ERCC5	102249399	102326346		Monzo, M.  et al. 2006	16507781				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2	French		CDC GDP info	2073	Hs.258429			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		133530		CDC	2006			chemotherapy									
147271	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	13	13q22	ERCC5	102249399	102326346			16536785				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			BJU Int    2006    97(4)    847-51	A single-nucleotide polymorphism in the XPG gene, and tumour stage, grade, and clinical course in patients with nonmuscle-invasive neoplasms of the urinary bladder		133530		CDC	2006	These results suggest that the SNP in the XPG gene might be related to tumour invasiveness in NIBN.											
147272		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346			16537713				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2		Spain	CDC GDP info	2073	Hs.258429			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		133530		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
147273		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	13	13q22	ERCC5	102249399	102326346		Moreno, V.  et al. 2006	16609022				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		133530		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
147275		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Shen, M.  et al. 2006	16738949				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Hum Genet    2006    119(6)    659-68	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		133530		CDC	2006												
147276	N	breast cancer	CANCER	CAN	Breast Neoplasms|Xeroderma Pigmentosum|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Jorgensen, T. J.  et al. 2006	16823510				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Breast Cancer Res Treat    2006	Breast Cancer Risk is not Associated with Polymorphic Forms of Xeroderma Pigmentosum Genes in a Cohort of Women from Washington County, Maryland		133530		CDC	2006	These results suggest that polymorphisms of XP genes are not likely to be significant risk factors for women within the general population.		family history									
147277		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Carles, J.  et al. 2006	16979838				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Int J Radiat Oncol Biol Phys    2006	Single-nucleotide polymorphisms in base excision repair, nucleotide excision repair, and double strand break genes as markers for response to radiotherapy in patients with Stage I to II head-and-neck cancer		133530		CDC	2006	Patients were 101 men (93.		radiation									
147278	N	DNA repair capacity	CANCER	CAN	Breast Neoplasms	13	13q22	ERCC5	102249399	102326346		Shen, J.  et al. 2006	16985021				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1614-9	Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer		133530		CDC	2006	there were no statistically significant differences in average DRC for most of the genotypes.		smoking (tobacco)									
147279		cytogenetic studies	OTHER	OTH		13	13q22	ERCC5	102249399	102326346		Laczmanska, I.  et al. 2006	17078101				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		133530		CDC	2006												
147280	Y	hypopharyngeal cancer laryngeal cancer	CANCER	CAN	Laryngeal Neoplasms|Hypopharyngeal Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Wen, S. X.  et al. 2006	17121236	ERCC5  Asp1104His			Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(5)    703-6	Association between genetic polymorphism in xeroderma pigmentosum G gene and risks of laryngeal and hypopharyngeal carcinomas		133530		CDC	2006	The XPG Asp1104His polymorphism may play a role in the development of laryngeal and hypopharyngeal carcinomas.											
147282		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Kiyohara, C.  et al. 2007	17299578				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Int J Med Sci    2007    4(2)    59-71	Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk		133530		CDC	2007												
147283	N	chromosomal damage	OTHER	OTH		13	13q22	ERCC5	102249399	102326346		Cheng, J.  et al. 2006	17313739				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    400-4	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers.		133530		CDC	2006	Our results suggested that polymorphisms of ERCC1 C19007T, ERCC6 A3368G and ERCC2 G23591A were associated with the CBMN frequencies in coke-oven workers.											
147284		p53 alterations	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	13	13q22	ERCC5	102249399	102326346		Sakano, S.  et al. 2006	17374967				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Pathobiology    2006    73(6)    295-303	Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer		133530		CDC	2006	Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.											
147285	N	chromosomal damage	OTHER	OTH	Chromosome Aberrations	13	13q22	ERCC5	102249399	102326346		Cheng, J.  et al. 2007	17438655				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Biomarkers    2007    12(1)    76-86	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers		133530		CDC	2007			polycyclic aromatic hydrocarbons									
147287	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Michiels, S.  et al. 2007	17494052				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2	Caucasian		CDC GDP info	2073	Hs.258429			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		133530		CDC	2007												
147288		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Wang, Y.  et al. 2007	17575242				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		133530		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
147289		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q11	ERCC6	50336714	50417590		Mechanic, L. E.  et al. 2006	16399771				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		133540		CDC	2006			smoking (tobacco)									
147290	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	10	10q11	ERCC6	50336714	50417590		Huang, W. Y.  et al. 2006	16492920				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		133540		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
147292		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	10	10q11	ERCC6	50336714	50417590		Berndt, S. I.  et al. 2006	17119055				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2263-9	Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk		133540		CDC	2006												
147293	Y	chromosomal damage	OTHER	OTH		10	10q11	ERCC6	50336714	50417590		Cheng, J.  et al. 2006	17313739	ERCC6 A3368G			excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    400-4	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers.		133540		CDC	2006	Our results suggested that polymorphisms of ERCC1 C19007T, ERCC6 A3368G and ERCC2 G23591A were associated with the CBMN frequencies in coke-oven workers.											
147294	Y	chromosomal damage	OTHER	OTH	Chromosome Aberrations	10	10q11	ERCC6	50336714	50417590		Cheng, J.  et al. 2007	17438655				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Biomarkers    2007    12(1)    76-86	Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers		133540		CDC	2007			polycyclic aromatic hydrocarbons									
147295		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	10	10q11	ERCC6	50336714	50417590		Wang, Y.  et al. 2007	17575242				excision repair cross-complementing rodent repair deficiency, complementation group 6				CDC GDP info	2074	HS.99924			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		133540		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
147297		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		6	6q25.1	ESR1	152053407	152466099		Comings, D. E.  et al. 2000	11140838				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		133430		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147298	P		NORMALVARIATION	NV		6	6q25.1	ESR1	152053407	152466099		Hamajima, N.  et al. 2002	12718576				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	2099	Hs.208124			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		133430		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
147299		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Liu, J. M.  et al. 2003	12757654				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Zhonghua Fu Chan Ke Za Zhi    2003    38(1)    24-7	Combined effect of interleukin-6 and estrogen receptor gene polymorphisms on bone mass in postmenopausal women		133430		CDC	2003	The introduction of ER gene Px haplotype in the analysis of IL-6 gene might identify individuals with a reduced bone mass more precisely.											
147300	P		CANCER	CAN	Neoplasms	6	6q25.1	ESR1	152053407	152466099		Yoshimura, K.  et al. 2003	14634838				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		133430		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
147301	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	6	6q25.1	ESR1	152053407	152466099		Peter, I.  et al. 2005	16269961				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Hypertens    2005    23(12)    2193-200	Variation in estrogen-related genes and cross-sectional and longitudinal blood pressure in the Framingham Heart Study		133430		CDC	2005	Although the underlying relations between genes involved in estrogen action and hypertension remain to be completely understood, our findings provide suggestive evidence of gender-specific contributions of estrogen-related genes to blood pressure variation. As no correction for multiple testing was performed in the analyses, we view these results as suggestive and not definitive. Further studies are warranted to confirm these results using a comprehensive set of polymorphisms in order to shed more light on the involvement of estrogen in blood pressure regulation.											
147302	Y	osteopenia osteoporosis	METABOLIC	MET	Bone Diseases, Metabolic|Osteoporosis, Postmenopausal	6	6q25.1	ESR1	152053407	152466099			16417078				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Ginekol Pol    2005    76(9)    679-86	The role of PvuII genetic polymorphism of estrogen receptor alpha in the group of postmenopausal women with osteopenia and osteoporosis		133430		CDC	2005	The presence of PP genotype and P allele could be connected with higher bone loss and with the development of osteopenia and osteoporosis in postmenopausal women.											
147303		trigeminal neuralgia	NEUROLOGICAL	NEUR		6	6q25.1	ESR1	152053407	152466099		Huang, C. J.  et al. 2005	16430179				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Hua Xi Kou Qiang Yi Xue Za Zhi    2005    23(6)    495-7	Association of estrogen receptor gene polymorphisms and primary trigeminal neuralgia		133430		CDC	2005	XbaI or PvuII polymorphism may be related to TR.											
147304		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Valdes, A. M.  et al. 2006	16453284				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Great Britain	CDC GDP info	2099	Hs.208124			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		133430		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
147305		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.1	ESR1	152053407	152466099		Fernandez, L. P.  et al. 2006	16477637				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Spanish;European;Asian	Spain	CDC GDP info	2099	Hs.208124			Int J Cancer    2006    119(2)    467-71	Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk		133430		CDC	2006												
147307		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Yu, J. C.  et al. 2006	16502042				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Biomed Sci    2006	Breast cancer risk associated with genotypic polymorphism of the genes involved in the estrogen-receptor-signaling pathway		133430		CDC	2006			age at first pregnancy body mass									
147308	N	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	6	6q25.1	ESR1	152053407	152466099			16522905				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		133430		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
147309	N	hypospadias	METABOLIC	MET	Hypospadias	6	6q25.1	ESR1	152053407	152466099		Beleza-Meireles, A.  et al. 2006	16553027				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Endocrinol Invest    2006    29(1)    5-10	Polymorphisms of estrogen receptor beta gene are associated with hypospadias		133430		CDC	2006	Our results suggest that variations in the ESR2 might influence susceptibility to hypospadias.											
147310	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Denschlag, D.  et al. 2006	16595228				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Caucasian		CDC GDP info	2099	Hs.208124			Fertil Steril    2006    85(2)    462-7	Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas		133430		CDC	2006												
147312	Y	bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Lau, H. H.  et al. 2006	16622736				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		133430		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
147313	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Damaraju, S.  et al. 2006	16638864				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		133430		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
147314	Y	scoliosis	OTHER	OTH	Scoliosis|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Wu, J.  et al. 2006	16648749				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Spine    2006    31(10)    1131-6	Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis		133430		CDC	2006	The XbaI site polymorphism of estrogen receptor gene may be associated with a risk of AIS.											
147315	N	osteoporosis	METABOLIC	MET	Osteoporosis|Cystic Fibrosis	6	6q25.1	ESR1	152053407	152466099		Castellani, C.  et al. 2006	16713399				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Cyst Fibros    2006	The genetic background of osteoporosis in cystic fibrosis		133430		CDC	2006	There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.											
147316	N	bone density cholesterol	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Bone	6	6q25.1	ESR1	152053407	152466099		Silvestri, S.  et al. 2006	16735942				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2		Denmark	CDC GDP info	2099	Hs.208124			Menopause    2006	Estrogen receptor alpha and beta polymorphisms		133430		CDC	2006	In a large white population of postmenopausal women, ERalpha gene polymorphisms were not associated with bone mineral density or lipid profile at baseline or after hormone therapy.		hormone replacement therapy									
147318	N	intrahepatic cholestasis of pregnancy	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Zhang, L.  et al. 2006	16762184				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Zhonghua Fu Chan Ke Za Zhi    2006    41(5)    307-10	Study on the association between estrogen receptor alpha gene polymorphism and intrahepatic cholestasis of pregnancy.		133430		CDC	2006	The ERalpha gene polymorphism is not associated with the risk of ICP.											
147319	N	homocysteine nitric oxide	METABOLIC	MET	Cardiovascular Diseases	6	6q25.1	ESR1	152053407	152466099		Reimann, M.  et al. 2006	16766435				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Climacteric    2006    9(3)    215-23	Evidence for associations between common polymorphisms of estrogen receptor beta gene with homocysteine and nitric oxide		133430		CDC	2006	Women who are homozygotic for ERbetacx + 56 G-->A A/A may be at increased risk for cardiovascular disease due to higher homocysteine levels.											
147320		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Disease Progression	6	6q25.1	ESR1	152053407	152466099		Anghel, A.  et al. 2006	16791593				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Cancer Res Clin Oncol    2006	Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer		133430		CDC	2006	Our results confirm previous reports regarding an association between longer CAG repeats and breast cancer.											
147322	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Disease Progression	6	6q25.1	ESR1	152053407	152466099		Gallicchio, L.  et al. 2006	16808847				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Caucasian		CDC GDP info	2099	Hs.208124			BMC Cancer    2006    6(1)    173	Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease		133430		CDC	2006	The results indicate that specific polymorphisms in the CYP1B1, ESR1, and ESR2 genes may play a role in progression of BBD to breast cancer among Caucasian women.											
147324	Y	bone density fractures, vertebral	METABOLIC	MET	Osteoporosis|Osteoporosis, Postmenopausal|Fractures, Bone|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Rivadeneira, F.  et al. 2006	16939403				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Bone Miner Res    2006    21(9)    1443-56	Estrogen Receptor beta (ESR2) Polymorphisms in Interaction With Estrogen Receptor alpha (ESR1) and Insulin-Like Growth Factor I (IGF1) Variants Influence the Risk of Fracture in Postmenopausal Women		133430		CDC	2006	Variants of ESR2 alone and in interaction with ESR1 and IGF1 influence the risk of fracture in postmenopausal women.											
147325		estradiol	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		Sowers, M. R.  et al. 2006	16949384				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2099	Hs.208124			Am J Med    2006    119(9 Suppl 1)    S16-22	Endogenous estradiol and its association with estrogen receptor gene polymorphisms		133430		CDC	2006												
147326		cholesterol, HDL lipoprotein	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Sowers, M. R.  et al. 2006	16949390				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2099	Hs.208124			Am J Med    2006    119(9 Suppl 1)    S61-8	Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN)		133430		CDC	2006												
147327	Y	bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Greendale, G. A.  et al. 2006	16949392				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2099	Hs.208124			Am J Med    2006    119(9 Suppl 1)    S79-86	The association of bone mineral density with estrogen receptor gene polymorphisms		133430		CDC	2006												
147328	N	menopause	REPRODUCTION	REP	Hot Flashes	6	6q25.1	ESR1	152053407	152466099		Woods, N. F.  et al. 2006	16977255				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Menopause    2006	Polymorphisms in the estrogen synthesis and metabolism pathways and symptoms during the menopausal transition		133430		CDC	2006	These findings suggest a possible role for CYP19 polymorphisms in estrogen levels and in vasomotor symptoms during the menopausal transition that warrants further study in larger and more diverse populations of women.											
147329		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Yamada, Y.  et al. 2006	17016614				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Int J Mol Med    2006    18(5)    843-51	Genetic factors for obesity		133430		CDC	2006												
147330	N	scoliosis	OTHER	OTH	Scoliosis	6	6q25.1	ESR1	152053407	152466099		Tang, N. L.  et al. 2006	17023856				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Spine    2006    31(21)    2463-8	A relook into the association of the estrogen receptor		133430		CDC	2006	The previously reported association with curve severity could not be replicated in our large series of Chinese AIS patients.											
147331		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Low, Y. L.  et al. 2006	17176215				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	European	United States	CDC GDP info	2099	Hs.208124			Nutr Cancer    2006    56(1)    31-9	Phytoestrogen exposure, polymorphisms in COMT, CYP19, ESR1, and SHBG genes, and their associations with prostate cancer risk		133430		CDC	2006	were compared with those from 178 healthy men matched by age and date of recruitment.											
147332		antithrombin fibrinogen protein C protein S thrombosis, deep vein	HEMATOLOGICAL	HEM	Venous Thrombosis	6	6q25.1	ESR1	152053407	152466099		Alessio, A. M.  et al. 2006	17184825				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Thromb Res    2006	Association between estrogen receptor alpha and beta gene polymorphisms and deep vein thrombosis		133430		CDC	2006	The presence of the AA genotype of the 1730G>A polymorphism (OR=0.18; 95%CI=0.05-0.62) suggests a protective effect for DVT in women using OC. As the GG genotype of the 1730G>A polymorphism is associated with$$$ increased PS activity in all control women and women using OC, this suggested that a protective effect must occur by another pathway not related to PS. The AA and AG genotypes of the c.454-351A>G and GG genotype of the 1082G>A polymorphisms are associated with increased fibrinogen concentration in pregnant women. The GG haplotype in the ESR2 gene (P<0.001) was related to factor V Leiden or G20210A mutation in the prothrombin gene, or both, as predictive factors of DVT.											
147333		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6q25.1	ESR1	152053407	152466099		Bertram, L.  et al. 2007	17192785				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		133430		CDC	2007	odds ratios (ranging from 1.											
147335	N	C-reactive protein fibrinogen	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Inflammation	6	6q25.1	ESR1	152053407	152466099		de Maat, M. P.  et al. 2007	17264952				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Thromb Haemost    2007    97(2)    234-9	Genetic variation in estrogen receptor, C-reactive protein and fibrinogen does not predict the plasma levels of inflammation markers after longterm hormone replacement therapy		133430		CDC	2007	higher plasma levels of CRP and lower plasma levels of fibrinogen were observed in women using HRT; however, genetic polymorphisms in ESR1, CRP and FGB were not associated with these effects of HRT.		hormone replacement therapy									
147336		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	6	6q25.1	ESR1	152053407	152466099		Geng, Y. G.  et al. 2007	17365134				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Int J Neurosci    2007    117(4)    539-47	COMPARISON OF THE POLYMORPHISMS OF ANDROGEN RECEPTOR GENE AND ESTROGEN alpha AND beta GENE BETWEEN ADOLESCENT FEMALES WITH FIRST-ONSET MAJOR DEPRESSIVE DISORDER AND CONTROLS		133430		CDC	2007												
147337	Y	dry eye syndrome	OTHER	OTH		6	6q25.1	ESR1	152053407	152466099		He, Y.  et al. 2006	17378156				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Yan Ke Xue Bao    2006    22(4)    233-6	The correlation of polymorphism of estrogen receptor gene to dry eye syndrome in postmenopausal women		133430		CDC	2006	There is a significant correlation of Pvu II polymorphism of ER gene with dry eye syndrome in postmenopausal women.											
147338		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Cunningham, J. M.  et al. 2007	17507624				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		133430		CDC	2007												
147339		sex hormones	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Low, Y. L.  et al. 2007	17507630				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Cancer Epidemiol Biomarkers Prev    2007    16(5)    1009-16	Phytoestrogen Exposure Is Associated with Circulating Sex Hormone Levels in Postmenopausal Women and Interact with ESR1 and NR1I2 Gene Variants		133430		CDC	2007	phytoestrogens modulate sex hormone and SHBG levels in postmenopausal women and interact with gene variants involved in estrogen signaling.		phytoestrogens									
147340	Y	in vitro fertilization	REPRODUCTION	REP	Infertility, Female	6	6q25.1	ESR1	152053407	152466099		Altmae, S.  et al. 2007	17540666				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Mol Hum Reprod    2007	Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization		133430		CDC	2007												
147342	Y	cognitive function	PSYCH	PSY	Stress	6	6q25.1	ESR1	152053407	152466099		Reynolds, C. A.  et al. 2007	17564514				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Twin Res Hum Genet    2007    10(2)    241-54	Genotype-environment interactions		133430		CDC	2007	suggested that nonshared environmental influences associated with depressive symptoms may moderate the G x E relationship observed for ESR1 and APOE and longitudinal semantic memory change whereby noncarriers of putative risk alleles may be relatively more sensitive to depressionevoking environmental contexts than carriers of the risk allele.		depression life events social support									
147343		menarche menopause	REPRODUCTION	REP		6	6q25.1	ESR1	152053407	152466099		Mitchell, E. S.  et al. 2007	17589376				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		133430		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
147344		breast cancer	CANCER	CAN		6	6q25.1	ESR1	152053407	152466099		Slattery, M. L.  et al. 2007	17594514				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	Hispanic ;Indian;non-Hispanic		CDC GDP info	2099	Hs.208124			Breast Cancer Res Treat    2007	Active and passive smoking, IL6, ESR1, and breast cancer risk		133430		CDC	2007			smoke (tobacco), passive									
147346	N	vertigo, migraine-associated	NEUROLOGICAL	NEUR	Vertigo|Migraine Disorders	6	6q25.1	ESR1	152053407	152466099		Lee, H.  et al. 2007	17609999				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Neurogenetics    2007	Association of progesterone receptor with migraine-associated vertigo		133430		CDC	2007												
147347	P		CANCER	CAN	Neoplasms	14	14q	ESR2	63763503	63875021		Yoshimura, K.  et al. 2003	14634838				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		601663		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
147349		endometriosis	REPRODUCTION	REP	Endometriosis|Recurrence	14	14q	ESR2	63763503	63875021		Luisi, S.  et al. 2006	16500359				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Fertil Steril    2006    85(3)    764-6	Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis		601663		CDC	2006	women affected by endometriosis with the ERalpha polymorphic allele, even if heterozygous, have a worse prognosis, and these results suggest that the ERalpha gene polymorphisms may be included among the genetic risk factors for endometriosis.											
147350	Y	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	14	14q	ESR2	63763503	63875021			16522905				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		601663		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
147351	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q	ESR2	63763503	63875021		Thellenberg-Karlsson, C.  et al. 2006	16551880				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Clin Cancer Res    2006    12(6)    1936-1941	Estrogen Receptor {beta} Polymorphism Is Associated with Prostate Cancer Risk		601663		CDC	2006	We found an association with a SNP located in the promoter region of the ERbeta gene and risk of developing prostate cancer.											
147352	Y	hypospadias	METABOLIC	MET	Hypospadias	14	14q	ESR2	63763503	63875021		Beleza-Meireles, A.  et al. 2006	16553027				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Endocrinol Invest    2006    29(1)    5-10	Polymorphisms of estrogen receptor beta gene are associated with hypospadias		601663		CDC	2006	Our results suggest that variations in the ESR2 might influence susceptibility to hypospadias.											
147353	N	osteoporosis, postmenopausal	PHARMACOGENOMIC	PHARM		14	14q	ESR2	63763503	63875021		Zhang, Z.  et al. 2006	16604479				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    129-33	Association of bone metabolism related genes polymorphisms with the effect of raloxifene hydrochloride on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis.		601663		CDC	2006	The effect of RLX on BMD in postmenopausal women with osteoporosis is regulated by the polymorphisms of Fok I of VDR gene and Pvu II of ESR1 gene.		raloxifene hydrochloride									
147355		scoliosis	OTHER	OTH	Scoliosis|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Wu, J.  et al. 2006	16648749				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Spine    2006    31(10)    1131-6	Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis		601663		CDC	2006	The XbaI site polymorphism of estrogen receptor gene may be associated with a risk of AIS.											
147356		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Endometrial Neoplasms|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Georgopoulos, N. A.  et al. 2006	16723304				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Gynecol Endocrinol    2006    22(4)    185-9	Estrogen receptor polymorphisms in tamoxifen-treated women with breast cancer		601663		CDC	2006			tamoxifen									
147358	Y	homocysteine nitric oxide	METABOLIC	MET	Cardiovascular Diseases	14	14q	ESR2	63763503	63875021		Reimann, M.  et al. 2006	16766435	ERbetacx + 56 G-->A A/A			Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Climacteric    2006    9(3)    215-23	Evidence for associations between common polymorphisms of estrogen receptor beta gene with homocysteine and nitric oxide		601663		CDC	2006	Women who are homozygotic for ERbetacx + 56 G-->A A/A may be at increased risk for cardiovascular disease due to higher homocysteine levels.											
147359	Y	bone density fracture risk osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis|Fractures, Bone|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Kung, A. W.  et al. 2006	16777502				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Bone    2006	T-1213C polymorphism of estrogen receptor beta is associated with low bone mineral density and osteoporotic fractures		601663		CDC	2006	ESR2 is involved in BMD determination in both sexes.											
147360		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Disease Progression	14	14q	ESR2	63763503	63875021		Anghel, A.  et al. 2006	16791593				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Cancer Res Clin Oncol    2006	Combined profile of the tandem repeats CAG, TA and CA of the androgen and estrogen receptor genes in breast cancer		601663		CDC	2006	Our results confirm previous reports regarding an association between longer CAG repeats and breast cancer.											
147361		bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Riancho, J. A.  et al. 2006	16793950				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Eur J Endocrinol    2006    155(1)    53-9	A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density		601663		CDC	2006	These results suggest that the interaction between polymorphisms of genes involved in estrogen synthesis and estrogen signaling exerts an important influence on BMD in postmenopausal women, thus helping to explain, in part, its heritable component.											
147362	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Disease Progression	14	14q	ESR2	63763503	63875021		Gallicchio, L.  et al. 2006	16808847				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Caucasian		CDC GDP info	2100	Hs.443150			BMC Cancer    2006    6(1)    173	Polymorphisms in estrogen-metabolizing and estrogen receptor genes and the risk of developing breast cancer among a cohort of women with benign breast disease		601663		CDC	2006	The results indicate that specific polymorphisms in the CYP1B1, ESR1, and ESR2 genes may play a role in progression of BBD to breast cancer among Caucasian women.											
147363		prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q	ESR2	63763503	63875021		Hedelin, M.  et al. 2006	16921512				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		Sweden	CDC GDP info	2100	Hs.443150			Prostate    2006	Dietary intake of phytoestrogens, estrogen receptor-beta polymorphisms and the risk of prostate cancer		601663		CDC	2006	Our study provides strong evidence that high intake of phytoestrogens substantially reduce prostate cancer risk among men with specific polymorphic variation in the promoter region of the estrogen receptor-beta gene.		phytoestrogens									
147364	Y	bone density fractures, vertebral	METABOLIC	MET	Osteoporosis|Osteoporosis, Postmenopausal|Fractures, Bone|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Rivadeneira, F.  et al. 2006	16939403				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Bone Miner Res    2006    21(9)    1443-56	Estrogen Receptor beta (ESR2) Polymorphisms in Interaction With Estrogen Receptor alpha (ESR1) and Insulin-Like Growth Factor I (IGF1) Variants Influence the Risk of Fracture in Postmenopausal Women		601663		CDC	2006	Variants of ESR2 alone and in interaction with ESR1 and IGF1 influence the risk of fracture in postmenopausal women.											
147365		estradiol	OTHER	OTH		14	14q	ESR2	63763503	63875021		Sowers, M. R.  et al. 2006	16949384				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2100	Hs.443150			Am J Med    2006    119(9 Suppl 1)    S16-22	Endogenous estradiol and its association with estrogen receptor gene polymorphisms		601663		CDC	2006												
147367	Y	bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Greendale, G. A.  et al. 2006	16949392				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2100	Hs.443150			Am J Med    2006    119(9 Suppl 1)    S79-86	The association of bone mineral density with estrogen receptor gene polymorphisms		601663		CDC	2006												
147368		antithrombin fibrinogen protein C protein S thrombosis, deep vein	HEMATOLOGICAL	HEM	Venous Thrombosis	14	14q	ESR2	63763503	63875021		Alessio, A. M.  et al. 2006	17184825				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Thromb Res    2006	Association between estrogen receptor alpha and beta gene polymorphisms and deep vein thrombosis		601663		CDC	2006	The presence of the AA genotype of the 1730G>A polymorphism (OR=0.18; 95%CI=0.05-0.62) suggests a protective effect for DVT in women using OC. As the GG genotype of the 1730G>A polymorphism is associated with$$$ increased PS activity in all control women and women using OC, this suggested that a protective effect must occur by another pathway not related to PS. The AA and AG genotypes of the c.454-351A>G and GG genotype of the 1082G>A polymorphisms are associated with increased fibrinogen concentration in pregnant women. The GG haplotype in the ESR2 gene (P<0.001) was related to factor V Leiden or G20210A mutation in the prothrombin gene, or both, as predictive factors of DVT.											
147369	N	endometriosis	REPRODUCTION	REP	Endometriosis	14	14q	ESR2	63763503	63875021		Lee, G. H.  et al. 2007	17336962	+1730 G/A			Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese;Korean		CDC GDP info	2100	Hs.443150			Fertil Steril    2007	Estrogen receptor beta gene +1730 G/A polymorphism in women with endometriosis		601663		CDC	2007	Our results suggest that the +1730 G/A polymorphism of the ER-beta gene may not be associated with the risk of endometriosis in the Korean population, which was not the case in the Japanese population.											
147370		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	14	14q	ESR2	63763503	63875021		Geng, Y. G.  et al. 2007	17365134				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Int J Neurosci    2007    117(4)    539-47	COMPARISON OF THE POLYMORPHISMS OF ANDROGEN RECEPTOR GENE AND ESTROGEN alpha AND beta GENE BETWEEN ADOLESCENT FEMALES WITH FIRST-ONSET MAJOR DEPRESSIVE DISORDER AND CONTROLS		601663		CDC	2007												
147371		prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q	ESR2	63763503	63875021		Cunningham, J. M.  et al. 2007	17507624				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		601663		CDC	2007												
147372		sex hormones	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Low, Y. L.  et al. 2007	17507630				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Cancer Epidemiol Biomarkers Prev    2007    16(5)    1009-16	Phytoestrogen Exposure Is Associated with Circulating Sex Hormone Levels in Postmenopausal Women and Interact with ESR1 and NR1I2 Gene Variants		601663		CDC	2007	phytoestrogens modulate sex hormone and SHBG levels in postmenopausal women and interact with gene variants involved in estrogen signaling.		phytoestrogens									
147374	Y	hypospadias	METABOLIC	MET	Hypospadias|Genetic Predisposition to Disease	14	14q	ESR2	63763503	63875021		Beleza-Meireles, A.  et al. 2007	17579196				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Clin Endocrinol Metab    2007	RISK FACTORS FOR HYPOSPADIAS IN THE ESTROGEN RECEPTOR 2 GENE		601663		CDC	2007	The present study evidences two non independent risk factors for hypospadias in the ESR2 gene.											
147375		premenstrual dysphoric disorder	REPRODUCTION	REP	Genetic Predisposition to Disease|Premenstrual Syndrome|Mood Disorders	14	14q	ESR2	63763503	63875021		Huo, L.  et al. 2007	17599809				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Biol Psychiatry    2007	Risk for Premenstrual Dysphoric Disorder Is Associated with Genetic Variation in ESR1, the Estrogen Receptor Alpha Gene		601663		CDC	2007	These are the first positive (albeit preliminary) genetic findings in this reproductive endocrine-related mood disorder and involve the receptor for a hormone that is pathogenically relevant.											
147377		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p12-p11	EXT2	44073674	44223556		Sladek, R.  et al. 2007	17293876				Exostoses (multiple) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000401.2	French		CDC GDP info	2132	Hs.368404			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		608210		CDC	2007												
147378		warfarin sensitivity	PHARMACOGENOMIC	PHARM		13	13q34	F10	112825113	112851844		Aquilante, C. L.  et al. 2006	16580898				Coagulation factor X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC040125			CDC GDP info	2159	Hs.361463			Clin Pharmacol Ther    2006    79(4)    291-302	Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements		227600		CDC	2006	Polymorphisms in warfarin drug target and metabolizing enzyme genes, in addition to nongenetic factors, were important determinants of warfarin dose requirements.											
147379	Y	hypertension, pregnancy induced	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	4	4q35	F11	187424111	187447829		Sato, I.  et al. 2006	16613788		T allele of rs925453		Coagulation factor XI (plasma thromboplastin antecedent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_019559			CDC GDP info	2160	Hs.1430	rs925453		Hypertens Pregnancy    2006    25(1)    21-31	Study of Association Between Hypertensive Disorders of Pregnancy and the Human Coagulation Factor XI Gene		264900		CDC	2006	The T allele of rs925453 and the T-G-G haplotype appear to be useful genetic markers of HDP.											
147380		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	4	4q35	F11	187424111	187447829		Smith, N. L.  et al. 2007	17284699				Coagulation factor XI (plasma thromboplastin antecedent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_019559			CDC GDP info	2160	Hs.1430			JAMA    2007    297(5)    489-98	Association of genetic variations with nonfatal venous thrombosis in postmenopausal women		264900		CDC	2007	After accounting for multiple testing, 5 SNPs associated with VT risk were identified, 3 of which have not been previously reported.											
147382	Y	C-reactive protein myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Factor XII Deficiency|Hypercholesterolemia|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079			16411408				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDP info	2161	Hs.1321			Thromb Haemost    2005    94(6)    1294-9	Synergistic association between hypercholesterolemia and the C46T factor XII polymorphism for developing premature myocardial infarction		234000		CDC	2005												
147383	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079		Nishihama, K.  et al. 2007	17143557				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDP info	2161	Hs.1321			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		234000		CDC	2007			diabetes hypercholesterolemia hypertension									
147384	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	5	5q33-qter	F12	176761746	176764079		Cochery-Nouvellon, E.  et al. 2007	17408404	F12   C46T			Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDP info	2161	Hs.1321			J Thromb Haemost    2007    5(4)    700-7	Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy		234000		CDC	2007	Homozygosity for the C46T polymorphism of the F12 gene is associated with venous thrombosis during the first pregnancy/puerperium in previously asymptomatic women.											
147385	Y	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Thrombosis|Myocardial Infarction|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Hancer, V. S.  et al. 2006	16501286	Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Circ J    2006    70(3)    239-42	The Association Between Factor XIII Val34Leu Polymorphism and Early Myocardial Infarction		134570		CDC	2006	Our findings support the hypothesis that Val34Leu polymorphism in FXIII gene has a protective effect against myocardial infarction.		diabetes hyperlipidemia obesity smoking (tobacco)									
147387		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	6	6p25.3-p24.3	F13A1	6089309	6265923		Komitopoulou, A.  et al. 2006	16567932				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		134570		CDC	2006	Except for FVL, no definite											
147388		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	6	6p25.3-p24.3	F13A1	6089309	6265923		Coulam, C. B.  et al. 2006	16635210				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		134570		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
147390		Factor XIII activation	HEMATOLOGICAL	HEM		6	6p25.3-p24.3	F13A1	6089309	6265923		de Lange, M.  et al. 2006	16763156				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Arterioscler Thromb Vasc Biol    2006	Joint Linkage and Association of Six Single-Nucleotide Polymorphisms in the Factor XIII-A Subunit Gene Point to V34L As the Main Functional Locus		134570		CDC	2006	Testing multiple SNPs in the FXIII A-subunit gene indicates that V34L is the main functional polymorphism influencing FXIII activation.											
147391		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Hiltunen, L.  et al. 2007	16765424				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		134570		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
147392	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p25.3-p24.3	F13A1	6089309	6265923		Lopez Ramirez, Y.  et al. 2006	16844105	FXIII Val34Leu			Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Venezuela	CDC GDP info	2162	Hs.335513			Clin Chim Acta    2006	Prevalence of the coagulation factor XIII polymorphism Val34Leu in women with recurrent miscarriage		134570		CDC	2006	FXIII Val34Leu polymorphism does not appear to be associated to RM.											
147393		stroke	PHARMACOGENOMIC	PHARM	Brain Ischemia|Cerebrovascular Accident|Hemorrhage	6	6p25.3-p24.3	F13A1	6089309	6265923		Gonzalez-Conejero, R.  et al. 2006	16857944				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Stroke    2006	Role of Fibrinogen Levels and Factor XIII V34L Polymorphism in Thrombolytic Therapy in Stroke Patients		134570		CDC	2006	Our study identifies 2 markers involved in fibrin formation associated with the efficacy of thrombolytic therapy and early mortality rates in patients with ischemic stroke.		recombinant tissue plasminogen activator									
147394	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Boekholdt, S. M.  et al. 2006	16881935				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Thromb Haemost    2006	Fibrinogen plasma levels modify the association between the factor XIII Val34Leu variant and risk of coronary artery disease; the EPIC-Norfolk prospective population study		134570		CDC	2006	the FXIII Val34Leu variant was not associated with the risk of future CAD.		fibrinogen									
147395	N	brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis	CARDIOVASCULAR	CARD	Sepsis|Bronchopulmonary Dysplasia|Cerebral Hemorrhage|Activated Protein C Resistance|Factor VII Deficiency|Factor XIII Deficiency|Hemorrhagic Disorders|Thrombophilia|Infant, Premature, Diseases|Leukomalacia, Periventricular	6	6p25.3-p24.3	F13A1	6089309	6265923		Hartel, C.  et al. 2006	16882823				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Germany	CDC GDP info	2162	Hs.335513			Pediatrics    2006    118(2)    683-9	Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants		134570		CDC	2006	We could not confirm previously reported associations of hemostasis gene variants and development of intraventricular hemorrhage in very low birth weight infants.											
147396	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Goodman, C. S.  et al. 2006	16938111				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		134570		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
147397	N	varicose ulcers	CARDIOVASCULAR	CARD	Varicose Ulcer	6	6p25.3-p24.3	F13A1	6089309	6265923		Tognazzo, S.  et al. 2006	16945500				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Vasc Surg    2006	Prognostic role of factor XIII gene variants in nonhealing venous leg ulcers		134570		CDC	2006	No correlation exists between FXIII genotypes and the prevalence of chronic venous ulcers, thus demonstrating that FXIII polymorphisms have no role in ulcer development.											
147398	Y	varicose ulcers	CARDIOVASCULAR	CARD	Varicose Ulcer	6	6p25.3-p24.3	F13A1	6089309	6265923		Gemmati, D.  et al. 2006	16950433				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Vasc Surg    2006    44(3)    554-62	Influence of gene polymorphisms in ulcer healing process after superficial venous surgery		134570		CDC	2006	The FXIII-34L variant was significantly associated with shorter healing time after superficial venous surgery, suggesting a role in the healing and tissue regeneration phases. Conversely, HFE-C282Y, despite its role in ulcer establishment, did not affect the postoperative healing time. In perspective, the identification of patients with a poor prognosis may											
147400			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Hoppe, B.  et al. 2006	17003923				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	German		CDC GDP info	2162	Hs.335513			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		134570		CDC	2006												
147402		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Yilmaz, S.  et al. 2006	17111197				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		134570		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
147403	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Bernstein, C. N.  et al. 2007	17156138				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Manitoba	CDC GDP info	2162	Hs.335513			Am J Gastroenterol    2007    102(2)    338-43	Mutations in clotting factors and inflammatory bowel disease		134570		CDC	2007	While there was a slightly greater prevalence of Factor XIII mutation carriership in CD, we did not find that gene mutations for these four common factors could explain the greater risk of venous thrombosis in CD and UC.											
147404		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Salazar-Sanchez, L.  et al. 2006	17195962				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Caucasian		CDC GDP info	2162	Hs.335513			Cell Biochem Funct    2006	The FXIIIVal34Leu, common and risk factors of venous thrombosis in early middle-age Costa Rican patients		134570		CDC	2006												
147405		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Komitopoulou, A.  et al. 2006	17230042				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		134570		CDC	2006												
147406		fibrinogen Il-6 myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Mannila, M. N.  et al. 2007	17241179				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Intern Med    2007    261(2)    138-47	The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration		134570		CDC	2007	In healthy men, fibrinogen haplotypes are associated with serum IL-6 concentrations in a manner consistent with their impact on MI risk.											
147408	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Gerardino, L.  et al. 2006	17288735				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Italian		CDC GDP info	2162	Hs.335513			Neurol Res    2006    28(8)    807-9	Coagulation factor XIII Val34Leu gene polymorphism and Alzheimer's disease		134570		CDC	2006												
147409		atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Voko, Z.  et al. 2007	17334514				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Haemost    2007    97(3)    458-63	Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis		134570		CDC	2007												
147410		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Shafey, M.  et al. 2007	17393027				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Haemost    2007    97(4)    635-41	Factor XIII Val34Leu variant and the risk of myocardial infarction. A meta-analysis		134570		CDC	2007												
147411		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	6	6p25.3-p24.3	F13A1	6089309	6265923		Elliott, L.  et al. 2007	17408468				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		134570		CDC	2007												
147413		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Subarachnoid Hemorrhage|Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Navarro-Nunez, L.  et al. 2007	17488662				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Haematologica    2007    92(4)    513-8	The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men		134570		CDC	2007	This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans.											
147414		cardiac death heart failure myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Gemmati, D.  et al. 2007	17515963				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Mol Med    2007    13(1-2)    112-20	Factor XIIIA-V34L and Factor XIIIB-H95R Gene Variants		134570		CDC	2007			percutaneous coronary intervention									
147416		thromboembolism, venous	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Le Gal, G.  et al. 2007	17568659				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007	Fibrinogen Aalpha-Thr312Ala and factor XIII-A Val34Leu polymorphisms in idiopathic venous thromboembolism		134570		CDC	2007	were analysed using a conditional logistic regression model for matched series.											
147417	N	thromboembolism, venous	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Cushman, M.  et al. 2007	17582472				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007	Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis		134570		CDC	2007	beta-fibrinogen -455 G/A, but not factor XIII 100 G/T, was associated with a lower risk of venous thrombosis in this general population sample. beta-fibrinogen -455 A may attenuate the increased thrombosis risk associated with obesity or factor V Leiden.		obesity									
147418	N	atherosclerosis, coronary fibrinogen myocardial infarct	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Bereczky, Z.  et al. 2007	17597187				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007	Decreased factor XIII levels in factor XIII A subunit Leu34 homozygous patients with coronary artery disease		134570		CDC	2007	CS or MI decreased FXIII levels in patients homozygous for FXIII-A Leu34 allele, but not in heterozygous or wild type patients. In the subgroup of patients with CS, but without the history of MI no significant effect was detected, which suggests that M											
147419		cerebral infarct, atherosclerotic	CARDIOVASCULAR	CARD	Cerebral Infarction	6	6p25.3-p24.3	F13A1	6089309	6265923		Akar, N.  et al. 2007	17621488				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			J Child Neurol    2007    22(2)    222-4	FXIII Gene Val34Leu Polymorphism in Turkish Children with Cerebral Infarct		134570		CDC	2007												
147421		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Thrombosis	11	11p11-q12	F2	46697330	46717631		Roldan, V.  et al. 2005	15749685				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Haematologica    2005    90(3)    421-3	Five prothrombotic polymorphisms and the prevalence of premature myocardial infarction		176930		CDC	2005												
147422	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11p11-q12	F2	46697330	46717631			16420563				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		United States	CDC GDP info	2147	Hs.410092			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		176930		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
147424		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Falkowski, A.  et al. 2005	16466010				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		176930		CDC	2005			streptokinase									
147425	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	11	11p11-q12	F2	46697330	46717631		Taymaz, H.  et al. 2006	16472842				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Turkish		CDC GDP info	2147	Hs.410092			Thromb Res    2006	Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population		176930		CDC	2006	Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population.											
147426		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631			16532157				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Rev Med Chil    2006    134(1)    13-20	Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain.		176930		CDC	2006	Prothrombin-G20210A allele was more prevelant than factor V Leiden (G1691A) allele in the Spanish population. However, the magnitude of the association between the G20210A and DVT risk is very low. On the contrary, the G1691A allele is associated by itself with a two fold increase in DVT risk in this population although without reaching statistical significance due to its low frequency.											
147428		warfarin sensitivity	PHARMACOGENOMIC	PHARM		11	11p11-q12	F2	46697330	46717631		Aquilante, C. L.  et al. 2006	16580898				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Clin Pharmacol Ther    2006    79(4)    291-302	Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements		176930		CDC	2006	Polymorphisms in warfarin drug target and metabolizing enzyme genes, in addition to nongenetic factors, were important determinants of warfarin dose requirements.											
147430		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Quintero-Ramos, A.  et al. 2006	16711541				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Gac Med Mex    2006    142(2)    95-8	Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion		176930		CDC	2006												
147431		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Hiltunen, L.  et al. 2007	16765424				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		176930		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
147432	N	pulmonary thromboembolism thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631			16881367				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Ter Arkh    2006    78(6)    70-6	C677T mutation in methylentetrahydrofolatereductase gene in patients with venous thromboses from the central region of Russia correlates with a high risk of pulmonary artery thromboembolism		176930		CDC	2006	LMFV and mutation G20210A in prothrombin gene are genetic risk factors of venous thrombosis.											
147433	N	brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis	CARDIOVASCULAR	CARD	Sepsis|Bronchopulmonary Dysplasia|Cerebral Hemorrhage|Activated Protein C Resistance|Factor VII Deficiency|Factor XIII Deficiency|Hemorrhagic Disorders|Thrombophilia|Infant, Premature, Diseases|Leukomalacia, Periventricular	11	11p11-q12	F2	46697330	46717631		Hartel, C.  et al. 2006	16882823				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Germany	CDC GDP info	2147	Hs.410092			Pediatrics    2006    118(2)    683-9	Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants		176930		CDC	2006	We could not confirm previously reported associations of hemostasis gene variants and development of intraventricular hemorrhage in very low birth weight infants.											
147434		peripheral vascular disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Ischemia|Peripheral Vascular Diseases	11	11p11-q12	F2	46697330	46717631		Abukishe, A.  et al. 2006	16906235				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Hamostaseologie    2006    26(3)    197-200	Mutation in factor II and factor V gene in patients with peripheral arterial occlusive disease.		176930		CDC	2006												
147435	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Goodman, C. S.  et al. 2006	16938111				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		176930		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
147436	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Dalmaz, C. A.  et al. 2006	16963292				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Brazil	CDC GDP info	2147	Hs.410092			Blood Cells Mol Dis    2006	Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population		176930		CDC	2006	in the population analyzed, the presence of the genotype risk factors alone does not seem to be associated with the development of preeclampsia even in the severe presentation form.											
147437			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Hoppe, B.  et al. 2006	17003923				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	German		CDC GDP info	2147	Hs.410092			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		176930		CDC	2006												
147438	N	Budd-Chiari syndrome liver transplant portal vein thrombosis	CARDIOVASCULAR	CARD	Liver Cirrhosis|Postoperative Complications	11	11p11-q12	F2	46697330	46717631		Pasta, L.  et al. 2006	17100732				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Clin Transplant    2006    20(6)    796-8	MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis		176930		CDC	2006												
147440		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Yilmaz, S.  et al. 2006	17111197				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		176930		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
147441	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	11	11p11-q12	F2	46697330	46717631		Pieroni, F.  et al. 2006	17113632				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		176930		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
147443	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Bernstein, C. N.  et al. 2007	17156138				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Manitoba	CDC GDP info	2147	Hs.410092			Am J Gastroenterol    2007    102(2)    338-43	Mutations in clotting factors and inflammatory bowel disease		176930		CDC	2007	While there was a slightly greater prevalence of Factor XIII mutation carriership in CD, we did not find that gene mutations for these four common factors could explain the greater risk of venous thrombosis in CD and UC.											
147444		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Komitopoulou, A.  et al. 2006	17230042				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		176930		CDC	2006												
147446	N	atrial fibrillation stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Atrial Fibrillation|Recurrence	11	11p11-q12	F2	46697330	46717631		Berge, E.  et al. 2007	17290027				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Stroke    2007	The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation		176930		CDC	2007	These mutations are not important risk factors for thromboembolic stroke associated with atrial fibrillation.											
147447		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism	11	11p11-q12	F2	46697330	46717631		Garcia-Hernandez, M. C.  et al. 2007	17306151				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Rev Clin Esp    2007    207(1)    26-28	Clinical comments on genetic marker prevalence (factor V Leiden, prothrombin 20210A and homozygous methylenetetrahydrofolate reductase form		176930		CDC	2007												
147448	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Myeloproliferative Disorders	11	11p11-q12	F2	46697330	46717631		Colaizzo, D.  et al. 2007	17307838				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			J Med Genet    2007	Gain of function gene mutations and venous thromboembolism		176930		CDC	2007	Carriership of FV Leiden or FII A20210 mutations identifies an at-risk condition for venous thrombosis in the lower extremities, SVT or CVT. In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients who should be carefully observed for the subsequent development of overt MPD. Thus, genetic tests may play a different ro											
147449		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sudden|Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Capaccio, P.  et al. 2007	17334320				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Laryngoscope    2007    117(3)    547-51	Genetic and acquired prothrombotic risk factors and sudden hearing loss		176930		CDC	2007	The association between inherited and acquired prothrombotic factors and sudden HL suggests that the microvascular impairment causing SSNHL may be caused by a multifactorial mechanism.											
147450	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Cochery-Nouvellon, E.  et al. 2007	17408404				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			J Thromb Haemost    2007    5(4)    700-7	Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy		176930		CDC	2007	Homozygosity for the C46T polymorphism of the F12 gene is associated with venous thrombosis during the first pregnancy/puerperium in previously asymptomatic women.											
147452		cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombocythemia, Hemorrhagic|Myeloproliferative Disorders|Polycythemia Vera	11	11p11-q12	F2	46697330	46717631		Pardanani, A.  et al. 2007	17460706				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Leukemia    2007	JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder		176930		CDC	2007												
147453	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Ay, C.  et al. 2007	17510305				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Clin Chem    2007	High Concentrations of Soluble P-Selectin Are Associated with Risk of Venous Thromboembolism and the P-Selectin Thr715 Variant		176930		CDC	2007	Increased sP-selectin concentrations are associated with VTE and genotype status. sP-selectin concentrations are lower in individuals carrying the P-selectin Pro715 variant than in those without this variant.											
147455		cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Romero, A.  et al. 2007	17537363				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Med Clin (Barc)    2007    128(17)    655-6	Genetic thrombophilia and cerebral venous thrombosis.		176930		CDC	2007	The presence of factor V Leiden and PT 20210A are risk factors for SCVT, but not the mutation of the MTHR.											
147456		thromboembolism, venous	CARDIOVASCULAR	CARD		11	11p11-q12	F2	46697330	46717631		Le Gal, G.  et al. 2007	17568659				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Thromb Res    2007	Fibrinogen Aalpha-Thr312Ala and factor XIII-A Val34Leu polymorphisms in idiopathic venous thromboembolism		176930		CDC	2007	were analysed using a conditional logistic regression model for matched series.											
147457	Y	coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Genetic Predisposition to Disease	5	5q13	F2R	76047546	76067054		Gigante, B.  et al. 2007	17347481				Coagulation factor II (thrombin) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001992			CDC GDP info	2149	Hs.482562			Arterioscler Thromb Vasc Biol    2007	Retrospective Analysis of Coagulation Factor II Receptor (F2R) Sequence Variation and Coronary Heart Disease in Hypertensive Patients		187930		CDC	2007	F2R genetic variants may influence the natural history of CHD in patients at high risk of cardiovascular events.											
147459	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p22-p21	F3	94767460	94779903		Yamaguchi, S.  et al. 2007	17334638				Coagulation factor III (thromboplastin, tissue factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001993.2			CDC GDP info	2152	Hs.62192			Int J Mol Med    2007    19(4)    631-7	Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus		134390		CDC	2007												
147460		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Thrombosis	1	1q23	F5	167747815	167822393		Roldan, V.  et al. 2005	15749685				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Haematologica    2005    90(3)    421-3	Five prothrombotic polymorphisms and the prevalence of premature myocardial infarction		227400		CDC	2005												
147461	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q23	F5	167747815	167822393			16420563				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		United States	CDC GDP info	2153	Hs.30054			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		227400		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
147463		thrombosis, arterial thrombosis, venous	CARDIOVASCULAR	CARD	Thrombosis|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Palomo, G. = I et al. 2005	16446869				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Chile	CDC GDP info	2153	Hs.30054			Rev Med Chil    2005    133(12)    1425-33	Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis.		227400		CDC	2005	In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population.											
147465	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q23	F5	167747815	167822393		Taymaz, H.  et al. 2006	16472842				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Turkish		CDC GDP info	2153	Hs.30054			Thromb Res    2006	Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population		227400		CDC	2006	Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population.											
147466		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393			16532157				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Rev Med Chil    2006    134(1)    13-20	Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain.		227400		CDC	2006	Prothrombin-G20210A allele was more prevelant than factor V Leiden (G1691A) allele in the Spanish population. However, the magnitude of the association between the G20210A and DVT risk is very low. On the contrary, the G1691A allele is associated by itself with a two fold increase in DVT risk in this population although without reaching statistical significance due to its low frequency.											
147467		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	1	1q23	F5	167747815	167822393		Komitopoulou, A.  et al. 2006	16567932				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		227400		CDC	2006	Except for FVL, no definite											
147468		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	1	1q23	F5	167747815	167822393		Coulam, C. B.  et al. 2006	16635210				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		227400		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
147469		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	1	1q23	F5	167747815	167822393		Hiltunen, L.  et al. 2007	16765424				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		227400		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
147470		brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Hemorrhages|Infant, Premature, Diseases	1	1q23	F5	167747815	167822393		Havasi, V.  et al. 2006	16773503				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Neuropediatrics    2006    37(2)    67-71	Increased Prevalence of Glycoprotein IIb/IIIa Leu33Pro Polymorphism in Term Infants with Grade I Intracranial Haemorrhage		227400		CDC	2006												
147472	Y	pulmonary thromboembolism thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393			16881367				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Ter Arkh    2006    78(6)    70-6	C677T mutation in methylentetrahydrofolatereductase gene in patients with venous thromboses from the central region of Russia correlates with a high risk of pulmonary artery thromboembolism		227400		CDC	2006	LMFV and mutation G20210A in prothrombin gene are genetic risk factors of venous thrombosis.											
147473	N	brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis	CARDIOVASCULAR	CARD	Sepsis|Bronchopulmonary Dysplasia|Cerebral Hemorrhage|Activated Protein C Resistance|Factor VII Deficiency|Factor XIII Deficiency|Hemorrhagic Disorders|Thrombophilia|Infant, Premature, Diseases|Leukomalacia, Periventricular	1	1q23	F5	167747815	167822393		Hartel, C.  et al. 2006	16882823				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Germany	CDC GDP info	2153	Hs.30054			Pediatrics    2006    118(2)    683-9	Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants		227400		CDC	2006	We could not confirm previously reported associations of hemostasis gene variants and development of intraventricular hemorrhage in very low birth weight infants.											
147474		peripheral vascular disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thrombosis|Ischemia|Peripheral Vascular Diseases	1	1q23	F5	167747815	167822393		Abukishe, A.  et al. 2006	16906235				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Hamostaseologie    2006    26(3)    197-200	Mutation in factor II and factor V gene in patients with peripheral arterial occlusive disease.		227400		CDC	2006												
147475	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Goodman, C. S.  et al. 2006	16938111				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		227400		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455GA, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
147476	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	1	1q23	F5	167747815	167822393		Dalmaz, C. A.  et al. 2006	16963292				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Brazil	CDC GDP info	2153	Hs.30054			Blood Cells Mol Dis    2006	Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population		227400		CDC	2006	in the population analyzed, the presence of the genotype risk factors alone does not seem to be associated with the development of preeclampsia even in the severe presentation form.											
147478	N	Budd-Chiari syndrome liver transplant portal vein thrombosis	CARDIOVASCULAR	CARD	Liver Cirrhosis|Postoperative Complications	1	1q23	F5	167747815	167822393		Pasta, L.  et al. 2006	17100732				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Clin Transplant    2006    20(6)    796-8	MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis		227400		CDC	2006												
147479	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Biron-Andreani, C.  et al. 2006	17107352				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		227400		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
147480		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Yilmaz, S.  et al. 2006	17111197				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		227400		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
147481	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q23	F5	167747815	167822393		Pieroni, F.  et al. 2006	17113632				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		227400		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
147483	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Bernstein, C. N.  et al. 2007	17156138				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Manitoba	CDC GDP info	2153	Hs.30054			Am J Gastroenterol    2007    102(2)    338-43	Mutations in clotting factors and inflammatory bowel disease		227400		CDC	2007	While there was a slightly greater prevalence of Factor XIII mutation carriership in CD, we did not find that gene mutations for these four common factors could explain the greater risk of venous thrombosis in CD and UC.											
147484		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Komitopoulou, A.  et al. 2006	17230042				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		227400		CDC	2006												
147485			HEMATOLOGICAL	HEM	Blood Coagulation Disorders, Inherited|Thrombophilia	1	1q23	F5	167747815	167822393		Said, J. M.  et al. 2006	17278618				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Australian;European;Asian	Australia	CDC GDP info	2153	Hs.30054			Hum Biol    2006    78(4)    403-12	Ethnic differences in the prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian prenatal population		227400		CDC	2006												
147487	N	atrial fibrillation stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Atrial Fibrillation|Recurrence	1	1q23	F5	167747815	167822393		Berge, E.  et al. 2007	17290027				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Stroke    2007	The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation		227400		CDC	2007	These mutations are not important risk factors for thromboembolic stroke associated with atrial fibrillation.											
147488		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism	1	1q23	F5	167747815	167822393		Garcia-Hernandez, M. C.  et al. 2007	17306151				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Rev Clin Esp    2007    207(1)    26-28	Clinical comments on genetic marker prevalence (factor V Leiden, prothrombin 20210A and homozygous methylenetetrahydrofolate reductase form		227400		CDC	2007												
147489	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Myeloproliferative Disorders	1	1q23	F5	167747815	167822393		Colaizzo, D.  et al. 2007	17307838				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			J Med Genet    2007	Gain of function gene mutations and venous thromboembolism		227400		CDC	2007	Carriership of FV Leiden or FII A20210 mutations identifies an at-risk condition for venous thrombosis in the lower extremities, SVT or CVT. In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients who should be carefully observed for the subsequent development of overt MPD. Thus, genetic tests may play a different ro											
147490		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sudden|Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Capaccio, P.  et al. 2007	17334320				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Laryngoscope    2007    117(3)    547-51	Genetic and acquired prothrombotic risk factors and sudden hearing loss		227400		CDC	2007	The association between inherited and acquired prothrombotic factors and sudden HL suggests that the microvascular impairment causing SSNHL may be caused by a multifactorial mechanism.											
147492		thrombosis, cerebral	CARDIOVASCULAR	CARD	Intracranial Thrombosis	1	1q23	F5	167747815	167822393		Ozyurek, E.  et al. 2007	17456624				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3	Turkish		CDC GDP info	2153	Hs.30054			Clin Appl Thromb Hemost    2007    13(2)    154-60	Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis		227400		CDC	2007												
147493		cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombocythemia, Hemorrhagic|Myeloproliferative Disorders|Polycythemia Vera	1	1q23	F5	167747815	167822393		Pardanani, A.  et al. 2007	17460706				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Leukemia    2007	JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder		227400		CDC	2007												
147494	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Ay, C.  et al. 2007	17510305				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Clin Chem    2007	High Concentrations of Soluble P-Selectin Are Associated with Risk of Venous Thromboembolism and the P-Selectin Thr715 Variant		227400		CDC	2007	Increased sP-selectin concentrations are associated with VTE and genotype status. sP-selectin concentrations are lower in individuals carrying the P-selectin Pro715 variant than in those without this variant.											
147495		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Xu, L.  et al. 2007	17537304				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Zhonghua Fu Chan Ke Za Zhi    2007    42(3)    180-3	Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion		227400		CDC	2007	The genetic polymorphisms of MTHFR C677T are associated with URESA.											
147497		thromboembolism, venous	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Le Gal, G.  et al. 2007	17568659				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Thromb Res    2007	Fibrinogen Aalpha-Thr312Ala and factor XIII-A Val34Leu polymorphisms in idiopathic venous thromboembolism		227400		CDC	2007	were analysed using a conditional logistic regression model for matched series.											
147498	N	thromboembolism, venous	CARDIOVASCULAR	CARD		1	1q23	F5	167747815	167822393		Cushman, M.  et al. 2007	17582472				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Thromb Res    2007	Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis		227400		CDC	2007	beta-fibrinogen -455 G/A, but not factor XIII 100 G/T, was associated with a lower risk of venous thrombosis in this general population sample. beta-fibrinogen -455 A may attenuate the increased thrombosis risk associated with obesity or factor V Leiden.		obesity									
147499		factor V coagulation activity thromboembolism, venous	HEMATOLOGICAL	HEM		1	1q23	F5	167747815	167822393		Han, X. M.  et al. 2007	17605877				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(3)    612-6	Analysis of activated protein C resistance, factor v coagulation activity and gene polymorphisms in patients with venous thromboembolism.		227400		CDC	2007												
147500			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Lee, J. K.  et al. 2003	12768436				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Japanese;Caucasian;Korean		CDC GDP info	2155	Hs.36989			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		227500		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
147501			CARDIOVASCULAR	CARD	Cardiovascular Diseases	13	13q34	F7	112808105	112822996		Moral, P.  et al. 2003	14746139				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	European		CDC GDP info	2155	Hs.36989			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		227500		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
147502	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	13	13q34	F7	112808105	112822996		Taymaz, H.  et al. 2006	16472842				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Turkish		CDC GDP info	2155	Hs.36989			Thromb Res    2006	Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population		227500		CDC	2006	Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population.											
147504		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Recurrence	13	13q34	F7	112808105	112822996			16543963				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Thromb Haemost    2006    95(1)    65-7	Marburg I polymorphism of factor VII-activating protease and risk of recurrent venous thromboembolism		227500		CDC	2006	FSAP Marburg I is, if at all, only a mild factor for recurrent VTE.											
147505	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Ischemic Attack, Transient|Acute Disease	13	13q34	F7	112808105	112822996		Funk, M.  et al. 2006	16556685				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Clin Chem    2006	Factor VII Gene Haplotypes and Risk of Ischemic Stroke		227500		CDC	2006	According to our results, the FVII -402A allele seems to increase the risk of early ischemic cerebrovascular events, whereas the 353R>Q, G-401T, and -323ins/del sequence variations, which are in close linkage disequilibrium, apparently do not influence the risk of stroke.											
147506		warfarin sensitivity	PHARMACOGENOMIC	PHARM		13	13q34	F7	112808105	112822996		Aquilante, C. L.  et al. 2006	16580898				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Clin Pharmacol Ther    2006    79(4)    291-302	Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements		227500		CDC	2006	Polymorphisms in warfarin drug target and metabolizing enzyme genes, in addition to nongenetic factors, were important determinants of warfarin dose requirements.											
147507			HEMATOLOGICAL	HEM	Blood Coagulation Disorders	13	13q34	F7	112808105	112822996		Soria, J. M.  et al. 2005	16596941				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Hum Biol    2005    77(5)    561-75	The F7 gene and clotting factor VII levels		227500		CDC	2005												
147508		fibrinogen heart disease, ischemic tissue plasminogen activator level	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Kathiresan, S.  et al. 2006	16614319				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Arterioscler Thromb Vasc Biol    2006	Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk		227500		CDC	2006	A comprehensive survey of common sequence variation demonstrates that cis-regulatory SNPs explain a modest proportion of the residual variance in circulating fibrinogen and factor VII level and PLAT haplotypes increase the risk of CVD. Additional studies are warranted to confirm the association of PLAT sequence variation and risk of CVD.											
147509		warfarin sensitivity	PHARMACOGENOMIC	PHARM		13	13q34	F7	112808105	112822996		Herman, D.  et al. 2006	16676068				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Caucasian		CDC GDP info	2155	Hs.36989			Thromb Haemost    2006    95(5)    782-7	The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement		227500		CDC	2006												
147510	N	brain hemorrhage bronchopulmonary dysplasia leukomalacia sepsis	CARDIOVASCULAR	CARD	Sepsis|Bronchopulmonary Dysplasia|Cerebral Hemorrhage|Activated Protein C Resistance|Factor VII Deficiency|Factor XIII Deficiency|Hemorrhagic Disorders|Thrombophilia|Infant, Premature, Diseases|Leukomalacia, Periventricular	13	13q34	F7	112808105	112822996		Hartel, C.  et al. 2006	16882823				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131		Germany	CDC GDP info	2155	Hs.36989			Pediatrics    2006    118(2)    683-9	Genetic polymorphisms of hemostasis genes and primary outcome of very low birth weight infants		227500		CDC	2006	We could not confirm previously reported associations of hemostasis gene variants and development of intraventricular hemorrhage in very low birth weight infants.											
147511			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Hoppe, B.  et al. 2006	17003923				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	German		CDC GDP info	2155	Hs.36989			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		227500		CDC	2006												
147512	Y	cardiac death myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression|Recurrence	13	13q34	F7	112808105	112822996		Campo, G.  et al. 2006	17008590				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Arterioscler Thromb Vasc Biol    2006	Tissue Factor and Coagulation Factor VII Levels During Acute Myocardial Infarction. Association With Genotype and Adverse Events		227500		CDC	2006	Admission FVII and TF antigen levels, partially predicted by polymorphisms, are independent predictors of mortality and reinfarction in patients with acute MI.											
147514		warfarin sensitivity	PHARMACOGENOMIC	PHARM		13	13q34	F7	112808105	112822996		Wadelius, M.  et al. 2006	17048007				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		227500		CDC	2006												
147515		cardiovascular disease myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Hypertension|Obesity|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Reiner, A. P.  et al. 2006	17059418				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	European		CDC GDP info	2155	Hs.36989			J Thromb Haemost    2006	Coagulation factor VII gene haplotypes, obesity-related traits, and cardiovascular risk in young women		227500		CDC	2006	Common FVII haplotypes may contribute to the risk of MI in women, but the mechanisms appear complex.											
147516		vitamin K-dependent coagulation	HEMATOLOGICAL	HEM	Vitamin K Deficiency|Hemorrhagic Disease of Newborn|Body Weight|Birth Weight	13	13q34	F7	112808105	112822996		Ito, K.  et al. 2007	17202767				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Tohoku J Exp Med    2007    211(1)    1-8	Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants		227500		CDC	2007												
147517		factor VII Ag lipids	HEMATOLOGICAL	HEM		13	13q34	F7	112808105	112822996		Fernandez de la Puebla, R. A.  et al. 2007	17440998				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Mol Nutr Food Res    2007	Factor VII polymorphisms influence the plasma response to diets with different fat content, in a healthy Caucasian population		227500		CDC	2007	Our data show that carriers of the RR and/or A1A1 genotype present higher FVII Ag levels after the consumption of a SAT diet compared with the MEDIT and CHO rich diets.		diet									
147519		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Inflammation	13	13q34	F7	112808105	112822996		Ekstrom, M.  et al. 2007	17581323				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Blood Coagul Fibrinolysis    2007    18(5)    473-477	Coagulation factor VII and inflammatory markers in patients with coronary heart disease		227500		CDC	2007												
147521		factor 8 levels thromboembolism, venous	HEMATOLOGICAL	HEM	Venous Thrombosis	X	Xq28	F8	153717257	153904192		Nossent, A. Y.  et al. 2006	16732372				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDP info	2157	Hs.632836			Thromb Haemost    2006    95(6)    942-8	Haplotypes encoding the factor VIII 1241 Glu variation, factor VIII levels and the risk of venous thrombosis		306700		CDC	2006												
147522		factor VIII levels	HEMATOLOGICAL	HEM	Thrombosis	X	Xq28	F8	153717257	153904192		Marchetti, G.  et al. 2006	16956829				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDP info	2157	Hs.632836			Haematologica    2006    91(9)    1261-3	Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women		306700		CDC	2006												
147523		factor VIII activity	HEMATOLOGICAL	HEM	Thrombophilia	X	Xq28	F8	153717257	153904192		Viel, K. R.  et al. 2007	17209060				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDP info	2157	Hs.632836			Blood    2007	A sequence variation scan of the coagulation factor (F)VIII structural gene and associations with plasma FVIII activity (FVIII		306700		CDC	2007												
147524	P		NORMALVARIATION	NV		X	Xq28	F8	153717257	153904192		Zhu, C. J.  et al. 2007	17349154				Coagulation factor VIII, procoagulant component (hemophilia A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000132.2			CDC GDP info	2157	Hs.632836			Zhonghua Er Ke Za Zhi    2007    45(1)    55-8	A study on the (CA)n in FVIII gene in Han ethnic group in Guangxi Zhuang Autonomous Region by amplification polymorphisms combined with silver staining		306700		CDC	2007	With high PICs, (CA)n at intron 13 and intron 22 were two valuable sites in the diagnosis of hemophilia A in the population of Han ethnic group in Guangxi Zhuang Autonomous Region.											
147526		warfarin sensitivity	PHARMACOGENOMIC	PHARM		X	Xq27.1-q27.2	F9	138440560	138473283		Wadelius, M.  et al. 2006	17048007				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2			CDC GDP info	2158	Hs.522798			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		306900		CDC	2006												
147527	Y		HEMATOLOGICAL	HEM	Hemophilia B	X	Xq27.1-q27.2	F9	138440560	138473283		Mahajan, A.  et al. 2007	17397055				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Indian;Asian		CDC GDP info	2158	Hs.522798			Hum Mutat    2007    28(5)    526	Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians		306900		CDC	2007	that universal, presumably endogenous factors are predominant in the causation of the spontaneous mutations in F9.											
147529	N	obesity	METABOLIC	MET	Obesity	1	1p35-p34	FAAH	46632578	46652104		Jensen, D. P.  et al. 2007	17216208				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1	Danish		CDC GDP info	2166	Hs.528334			J Mol Med    2007	The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites		602935		CDC	2007	in a large study sample, we were unable to find robust evidence of an association of the Pro129Thr FAAH variant with overweight, obesity, and any related quantitative traits among the examined whites.											
147530		drug abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	1	1p35-p34	FAAH	46632578	46652104		Tyndale, R. F.  et al. 2007	17290447				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1	Caucasian		CDC GDP info	2166	Hs.528334			Am J Med Genet B Neuropsychiatr Genet    2007	The fatty acid amide hydrolase C385A (P129T) missense variant in cannabis users		602935		CDC	2007												
147531		antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	1	1p35-p34	FAAH	46632578	46652104		Hoenicka, J.  et al. 2007	17449448				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1		Spain	CDC GDP info	2166	Hs.528334			Neurotox Res    2007    11(1)    51-60	Association in alcoholic patients between psychopathic traits and the additive effect of allelic forms of the CNR1 and FAAH endocannabinoid genes, and the 3' region of the DRD2 gene		602935		CDC	2007												
147532	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	1	1p35-p34	FAAH	46632578	46652104		Iwasaki, S.  et al. 2007	17621164				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1	Japanese;Caucasian		CDC GDP info	2166	Hs.528334			Psychiatr Genet    2007    17(4)    215-220	Association study between alcoholism and endocannabinoid metabolic enzyme genes encoding fatty acid amide hydrolase and monoglyceride lipase in a Japanese population		602935		CDC	2007	Whereas we examined associations in a larger sample size between alcoholism and tag single nucleotide polymorphisms that covered most regions of these endocannabinoid metabolic enzyme genes, we found that these are not associated with susceptibility to alcoholism in a Japanese population.											
147533		atherosclerosis, coronary cardiac death myocardial infarct stroke	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus|Dyslipidemias|Genetic Predisposition to Disease	2	2p11	FABP1	88203624	88208693		Georgopoulos, A.  et al. 2006	16945373				Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1			CDC GDP info	2168	Hs.380135			Atherosclerosis    2006	Codon 54 polymorphism of the fatty acid binding protein (FABP) 2 gene is associated with increased cardiovascular risk in the dyslipidemic diabetic participants of the veterans affairs HDL intervention trial (VA-HIT)		134650		CDC	2006												
147534	Y	cardiovascular disease cholesterol, LDL diabetes, type 2 triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2|Metabolic Syndrome X|Genetic Predisposition to Disease	2	2p11	FABP1	88203624	88208693		Fisher, E.  et al. 2007	17485234				Fatty acid binding protein 1, liver	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001443.1	European		CDC GDP info	2168	Hs.380135			Mol Genet Metab    2007	L-FABP T94A is associated with fasting triglycerides and LDL-cholesterol in women		134650		CDC	2007	our study provides evidence for an association of the FABP1 T94A polymorphism and fasting triglycerides and LDL-cholesterol levels in females. These results support previous findings in fenofibrate-treated individuals and thereby provide some additional indication of the functional relevance of the FABP1 T94A SNP in hepatic fatty acid and lipid metabolism in humans.											
147535	Y	body mass cholesterol cholesterol, HDL diabetes, type 2 leptin	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Li, Y.  et al. 2006	16718625			promoter	Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Caucasian		CDC GDP info	2169	Hs.282265			Horm Metab Res    2006    38(5)    300-7	Association Between Functional FABP2 Promoter Haplotype and Type 2 Diabetes		134640		CDC	2006	our findings suggest that the functional FABP2 promoter haplotype may contribute to type 2 diabetes in a sex-specific manner.											
147536		body mass diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Fisher, E.  et al. 2006	16718632				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	German		CDC GDP info	2169	Hs.282265			Horm Metab Res    2006    38(5)    341-5	Preliminary Evidence of FABP2 A54T Polymorphism Associated with Reduced Risk of Type 2 Diabetes and Obesity in Women from a German Cohort		134640		CDC	2006												
147537	Y	cholesterol cholesterol, HDL cholesterol, LDL hyperlipidemia lipoprotein triglycerides	PHARMACOGENOMIC	PHARM	Hyperlipidemias	4	4q28-q31	FABP2	120457852	120462766		Chang, X. T.  et al. 2006	16733910				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    230-3	Effect of polymorphism of human intestinal fatty acid binding protein gene on the therapeutic efficacy of fenofibrate		134640		CDC	2006	The polymorphism of human IFABP gene in hyperlipidemia is related with the therapeutic efficacy of fenofibrate, and the T54T IFABP genotype may have strong negative effect on such efficacy.		fenofibrate									
147538	Y	blood pressure, arterial obesity	CARDIOVASCULAR	CARD	Obesity|Weight Loss	4	4q28-q31	FABP2	120457852	120462766		de Luis, D. A.  et al. 2006	16809903				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Ann Nutr Metab    2006    50(4)    354-360	Influence of ALA54THR Polymorphism of Fatty Acid Binding Protein 2 on Lifestyle Modification Response in Obese Subjects		134640		CDC	2006	Weight loss is associated with different changes, depending on the FABP2 genotype.		diet physical activity									
147539	Y	body mass fatty acid glucose tolerance lipoprotein	METABOLIC	MET	Insulin Resistance|Obesity	4	4q28-q31	FABP2	120457852	120462766		Okada, T.  et al. 2006	16908951	FABP 2  Thr/Thr54			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			J Atheroscler Thromb    2006    13(4)    192-196	Thr-encoding Allele Homozygosity at Codon 54 of FABP 2 Gene May be Associated with Impaired Delta 6 Desatruase Activity and Reduced Plasma Arachidonic Acid in Obese Children		134640		CDC	2006	In obese children, Thr/Thr54 of the FABP 2 gene is associated with impaired activation of D6D and reduced AA content. The results in the LCPUFA profile suggest that Thr/Thr54 may predispose the to development of insulin resistance.											
147540		hypertriglyceridemia metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X|Hypertriglyceridemia|Obesity	4	4q28-q31	FABP2	120457852	120462766		Vimaleswaran, K. S.  et al. 2006	16919542				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Indian;Asian	India	CDC GDP info	2169	Hs.282265			Metabolism    2006    55(9)    1222-6	Thr54 allele carriers of the Ala54Thr variant of FABP2 gene have associations with metabolic syndrome and hypertriglyceridemia in urban South Indians		134640		CDC	2006												
147541	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Nishihama, K.  et al. 2007	17143557				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		134640		CDC	2007			diabetes hypercholesterolemia hypertension									
147542	Y	glucose tolerance insulin lipemia lipid oxidation	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperlipidemias|Genetic Predisposition to Disease	4	4q28-q31	FABP2	120457852	120462766		Weiss, E. P.  et al. 2007	17209184	FABP2 Thr54			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Am J Clin Nutr    2007    85(1)    102-8	FABP2 Ala54Thr genotype is associated with glucoregulatory function and lipid oxidation after a high-fat meal in sedentary nondiabetic men and women		134640		CDC	2007	In sedentary nondiabetic persons following a low-fat diet, FABP2 Thr54 carriers have lower glucose tolerance and lower insulin action than do Ala54-homozygous persons. Furthermore, FABP Thr54 carriers have higher lipid oxidation rates, which may be the mechanism of glucoregulatory dysfunction.											
147544		carotid atherosclerosis	CARDIOVASCULAR	CARD	Carotid Stenosis	4	4q28-q31	FABP2	120457852	120462766		Wanby, P.  et al. 2007	17212611				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Acta Neurol Scand    2007    115(2)    90-6	Increased plasma levels of asymmetric dimethylarginine in patients with carotid stenosis		134640		CDC	2007	ADMA levels in subjects with carotid stenosis are increased which emphasize the role of ADMA as a novel risk factor for atherosclerosis and future cardiovascular risk.											
147545	Y	diabetes, type 2 metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Albala, C.  et al. 2007	17292994				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Diabetes Res Clin Pract    2007	FABP2 Ala54Thr polymorphism and diabetes in Chilean elders		134640		CDC	2007	Our results strongly suggest an association between the Ala54Thr polymorphism of FABP2 with diabetes, revealing a genetic dosage effect regarding its association with diabetes in Chilean elders.											
147546	Y	topiramate pharmacokinetics valproate pharmcokinetics	PHARMACOGENOMIC	PHARM	Epilepsy	4	4q28-q31	FABP2	120457852	120462766			17310796				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Zh Nevrol Psikhiatr Im S S Korsakova    2007    107(1)    42-5	An association between the FABP2 gene polymorphism and efficacy of valproates		134640		CDC	2007												
147548	N	anthropometic parameters triglycerides	PHARMACOGENOMIC	PHARM		4	4q28-q31	FABP2	120457852	120462766		Helwig, U.  et al. 2007	17447159			promoter	Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Horm Metab Res    2007    39(4)    237-43	The Effects of Retinol on Postprandial Parameters in Men with Different FABP2 Promoter Haplotypes		134640		CDC	2007	the postprandial triglyceride metabolism of FABP2 promoter AA and BB did not respond differently to retinol administration even though IN SILICO analysis suggested this.		retinol									
147549	Y	glucose tolerance triglycerides	METABOLIC	MET	Hyperlipidemias	4	4q28-q31	FABP2	120457852	120462766		Helwig, U.  et al. 2007	17512303			promoter	Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Metabolism    2007    56(6)    723-31	The association of fatty acid-binding protein 2 A54T polymorphism with postprandial lipemia depends on promoter variability		134640		CDC	2007												
147550	P	body mass cardiovascular risk index cholesterol glycemia hypertension	METABOLIC	MET	Cardiovascular Diseases	4	4q28-q31	FABP2	120457852	120462766		Gomez, L. C.  et al. 2007	17594477				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	European		CDC GDP info	2169	Hs.282265			BMC Med Genet    2007    8(1)    39	Polymorphism of the FABP2 gene		134640		CDC	2007	This is the first study to look at the population frequency of the Thr54 allele in Argentina.											
147551		cardiovascular disease diabetes, type 2 hypertriglyceridemia	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2|Hypertriglyceridemia|Obesity|Genetic Predisposition to Disease	8	8q21	FABP4	82553489	82558004		Tuncman, G.  et al. 2006	16641093				Fatty acid binding protein 4, adipocyte	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001442.1			CDC GDP info	2167	Hs.391561			Proc Natl Acad Sci U S A    2006	A genetic variant at the fatty acid-binding protein aP2 locus reduces the risk for hypertriglyceridemia, type 2 diabetes, and cardiovascular disease		600434		CDC	2006												
147553	Y	allergic rhinitis dermatitis and eczema fatty acid	IMMUNE	IMM	Rhinitis|Dermatitis, Atopic|Hypersensitivity	11	11q12.2-q13.1	FADS1	61323676	61340886		Schaeffer, L.  et al. 2006	16670158				Fatty acid desaturase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013402	European;German		CDC GDP info	3992	Hs.503546			Hum Mol Genet    2006	Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids				CDC	2006												
147554	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11q12.2-q13.1	FADS1	61323676	61340886		Brookes, K. J.  et al. 2006	16893529				Fatty acid desaturase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013402			CDC GDP info	3992	Hs.503546			Biol Psychiatry    2006	Association of Fatty Acid Desaturase Genes with Attention-Deficit/Hyperactivity Disorder				CDC	2006	These preliminary findings are suggestive of an association between FADS2 and ADHD.		alcohol, maternal									
147555	Y	allergic rhinitis dermatitis and eczema fatty acid	IMMUNE	IMM	Rhinitis|Dermatitis, Atopic|Hypersensitivity	11	11q12-q13.1	FADS2	61340324	61391401		Schaeffer, L.  et al. 2006	16670158				Fatty acid desaturase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640945	European;German		CDC GDP info	9415	Hs.502745			Hum Mol Genet    2006	Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids				CDC	2006												
147557	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	11	11q12-q13.1	FADS2	61340324	61391401		Baylin, A.  et al. 2007	17284757				Fatty acid desaturase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640945		Costa Rica	CDC GDP info	9415	Hs.502745			Am J Clin Nutr    2007    85(2)    554-60	alpha-Linolenic acid, Delta6-desaturase gene polymorphism, and the risk of nonfatal myocardial infarction				CDC	2007	The FADS2 deletion may prevent the conversion of ALA into very-long-chain PUFAs. However, this metabolic effect is not translated into an attenuated risk between ALA and MI among carriers of the variant. It is possible that, at current intakes of ALA, any potential defect in the transcription of the gene is masked by the availability of substrate. Further research in populations deficient in ALA intake is warranted.											
147558	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	6	6q14	FAM46A	82512165	82519147			16545789				Family with sequence similarity 46, member A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017633			CDC GDP info	55603	Hs.10784			Clin Chim Acta    2006	Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population				CDC	2006	A novel VNTR polymorphism in C6orf37 exists in Chinese population and is not associated with colorectal cancer risk.											
147559			CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	6	6q14	FAM46A	82512165	82519147		Cui, J.  et al. 2006	16924696				Family with sequence similarity 46, member A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017633			CDC GDP info	55603	Hs.10784			Zhejiang Da Xue Xue Bao Yi Xue Ban    2006    35(4)    354-9	VNTR polymorphism of C6orf37 in Chinese population.				CDC	2006	A novel highly polymorphic VNTR in C6orf37 exists in Chinese population.											
147560		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3p26	FANCD2	10043112	10118614		Barroso, E.  et al. 2006	16679306				Fanconi anemia, complementation group D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC038666			CDC GDP info	2177	Hs.208388			Carcinogenesis    2006	FANCD2 associated with sporadic breast cancer risk		227646		CDC	2006												
147561		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	9	9p13	FANCG	35063834	35070013		Moreno, V.  et al. 2006	16609022				Fanconi anemia, complementation group G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004629.1			CDC GDP info	2189	Hs.591084			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		602956		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
147563		liver transplant	OTHER	OTH	Disease Progression|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Marin, L. A.  et al. 2006	16441482				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Tissue Antigens    2006    67(2)    117-26	Study of Fas (CD95) and FasL (CD178) polymorphisms in liver transplant recipients		134637		CDC	2006												
147564		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Bel Hadj Jrad, B.  et al. 2006	16473667			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Tunisian		CDC GDP info	355	Hs.244139			Cancer Lett    2006    233(1)    21-7	A polymorphism in FAS gene promoter associated with increased risk of nasopharyngeal carcinoma and correlated with anti-nuclear autoantibodies induction		134637		CDC	2006												
147565	Y	HELLP syndrome	OTHER	OTH	HELLP Syndrome	10	10q24.1	FAS	90740267	90765522		Sziller, I.  et al. 2006	16507928				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Obstet Gynecol    2006    107(3)    582-587	Fas (TNFRSF6) Gene Polymorphism in Pregnant Women With Hemolysis, Elevated Liver Enzymes, and Low Platelets and in Their Neonates		134637		CDC	2006	A single A>G nucleotide substitution at position -670 in the maternal but not neonatal TNFRSF6 gene coding for Fas is associated with a higher risk for HELLP syndrome. LEVEL OF EVIDENCE: II-2.											
147567	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	10	10q24.1	FAS	90740267	90765522			16538171			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3		China	CDC GDP info	355	Hs.244139			Pharmacogenet Genomics    2006    16(4)    245-251	Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China		134637		CDC	2006	FAS and FASLG polymorphisms appear to jointly contribute to risk of bladder cancer in this southern Chinese population.											
147568	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	10	10q24.1	FAS	90740267	90765522			16538172				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	non-Hispanic		CDC GDP info	355	Hs.244139			Pharmacogenet Genomics    2006    16(4)    253-63	Polymorphisms of the FAS and FAS ligand genes associated with risk of cutaneous malignant melanoma		134637		CDC	2006	genetic variants in the FAS and FASLG genes may contribute to the etiology of CMM in the general population, particularly in those with a low risk of sunlight-induced CMM.											
147570	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Pharyngeal Neoplasms|Disease Progression|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Zhang, Z.  et al. 2006	17000697				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	non-Hispanic		CDC GDP info	355	Hs.244139			Clin Cancer Res    2006    12(18)    5596-602	Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck		134637		CDC	2006	The FAS (but not FASLG) polymorphisms seem to contribute to risk of developing SCCHN, particularly the pharyngeal cancer in non-Hispanic Whites. However, potential selection bias warrants future population-based studies to verify the findings.											
147572	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Park, S. H.  et al. 2006	17014925				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Korean		CDC GDP info	355	Hs.244139			Lung Cancer    2006	Polymorphisms in the FAS and FASL genes and risk of lung cancer in a Korean population		134637		CDC	2006	These results suggest that the FAS-1377G>A and -670A>G and FASL-844C>T polymorphisms do not significantly affect the susceptibility to lung cancer in Koreans.											
147573		breast cancer	CANCER	CAN	Breast Neoplasms	10	10q24.1	FAS	90740267	90765522		Zhang, B.  et al. 2006	17183065				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Carcinogenesis    2006	Functional Polymorphisms in FAS and FASL Contribute to Increased Apoptosis of Tumor Infiltration Lymphocytes and Risk of Breast Cancer		134637		CDC	2006												
147574		heart transplant	CARDIOVASCULAR	CARD		10	10q24.1	FAS	90740267	90765522		Girnita, D. M.  et al. 2006	17198275				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Hispanic Caucasian		CDC GDP info	355	Hs.244139			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		134637		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
147575		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24.1	FAS	90740267	90765522		Andreoli, V.  et al. 2007	17406980				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Italian		CDC GDP info	355	Hs.244139			Neurochem Res    2007	Fas Antigen and Sporadic Alzheimer's Disease in Southern Italy		134637		CDC	2007												
147576		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	10	10q24.1	FAS	90740267	90765522		Gormus, U.  et al. 2007	17465232				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Anticancer Res    2007    27(2)    991-4	Fas-1377A/G and FasL-844 T/C gene polymorphisms and epithelial ovarian cancer		134637		CDC	2007	Because of the expressional aspects of the FasL-844T --> C polymorphism, individuals carrying the FasL-844C allele would be expected to have higher FasL expression on tumour cells compared with those carrying the FasL-844T allele. People with such a genotype show a tendency to develop various tumours.											
147577		FAS levels	IMMUNE	IMM		10	10q24.1	FAS	90740267	90765522		Mahfoudh, W.  et al. 2007	17504511			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Int J Immunogenet    2007    34(3)    209-212	A polymorphism in FAS gene promoter correlated with circulating soluble FAS levels		134637		CDC	2007												
147578	N	esophageal cancer	CANCER	CAN	Esophageal Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Jain, M.  et al. 2007	17561354				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Cancer Detect Prev    2007	Role of BCL2 (ala43thr), CCND1 (G870A) and FAS (A-670G) polymorphisms in modulating the risk of developing esophageal cancer		134637		CDC	2007												
147579		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Erdogan, M.  et al. 2007	17598974				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Turkish		CDC GDP info	355	Hs.244139			J Endocrinol Invest    2007    30(5)    411-6	Fas/Fas ligand gene polymorphism in patients with papillary thyroid cancer in the Turkish population		134637		CDC	2007	As in other types of malignancy, genetic factors in the pathogenesis of PTC may also show changes in different populations.											
147580		liver transplant	OTHER	OTH	Disease Progression|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Marin, L. A.  et al. 2006	16441482				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			Tissue Antigens    2006    67(2)    117-26	Study of Fas (CD95) and FasL (CD178) polymorphisms in liver transplant recipients		134638		CDC	2006												
147582	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	1	1q23	FASLG	170894807	170902635			16538171			promoter	Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1		China	CDC GDP info	356	Hs.2007			Pharmacogenet Genomics    2006    16(4)    245-251	Functional polymorphisms in the promoter regions of the FAS and FAS ligand genes and risk of bladder cancer in south China		134638		CDC	2006	FAS and FASLG polymorphisms appear to jointly contribute to risk of bladder cancer in this southern Chinese population.											
147583	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	1	1q23	FASLG	170894807	170902635			16538172				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	non-Hispanic		CDC GDP info	356	Hs.2007			Pharmacogenet Genomics    2006    16(4)    253-63	Polymorphisms of the FAS and FAS ligand genes associated with risk of cutaneous malignant melanoma		134638		CDC	2006	genetic variants in the FAS and FASLG genes may contribute to the etiology of CMM in the general population, particularly in those with a low risk of sunlight-induced CMM.											
147585	N	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Pharyngeal Neoplasms|Disease Progression|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Zhang, Z.  et al. 2006	17000697				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	non-Hispanic		CDC GDP info	356	Hs.2007			Clin Cancer Res    2006    12(18)    5596-602	Polymorphisms of FAS and FAS ligand genes involved in the death pathway and risk and progression of squamous cell carcinoma of the head and neck		134638		CDC	2006	The FAS (but not FASLG) polymorphisms seem to contribute to risk of developing SCCHN, particularly the pharyngeal cancer in non-Hispanic Whites. However, potential selection bias warrants future population-based studies to verify the findings.											
147586	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Park, S. H.  et al. 2006	17014925				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Korean		CDC GDP info	356	Hs.2007			Lung Cancer    2006	Polymorphisms in the FAS and FASL genes and risk of lung cancer in a Korean population		134638		CDC	2006	These results suggest that the FAS-1377G>A and -670A>G and FASL-844C>T polymorphisms do not significantly affect the susceptibility to lung cancer in Koreans.											
147587		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q23	FASLG	170894807	170902635		Zhang, B.  et al. 2006	17183065				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			Carcinogenesis    2006	Functional Polymorphisms in FAS and FASL Contribute to Increased Apoptosis of Tumor Infiltration Lymphocytes and Risk of Breast Cancer		134638		CDC	2006												
147588		heart transplant	CARDIOVASCULAR	CARD		1	1q23	FASLG	170894807	170902635		Girnita, D. M.  et al. 2006	17198275				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Hispanic Caucasian		CDC GDP info	356	Hs.2007			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		134638		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
147589		hepatitis C	INFECTION	INF	Hepatitis C|Liver Cirrhosis	1	1q23	FASLG	170894807	170902635		Ruiz-Ferrer, M.  et al. 2007	17381722			promoter	Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			J Viral Hepat    2007    14(4)    293-4	Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients		134638		CDC	2007												
147592		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Erdogan, M.  et al. 2007	17598974				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Turkish		CDC GDP info	356	Hs.2007			J Endocrinol Invest    2007    30(5)    411-6	Fas/Fas ligand gene polymorphism in patients with papillary thyroid cancer in the Turkish population		134638		CDC	2007	As in other types of malignancy, genetic factors in the pathogenesis of PTC may also show changes in different populations.											
147593	N	cardiovascular disease	CARDIOVASCULAR	CARD	Vascular Diseases	15	15q21.1	FBN1	46487796	46725210		Yasmin,  et al. 2006	16467653				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDP info	2200	Hs.591133			J Hypertens    2006    24(3)    499-502	Genetic variation in fibrillin-1 gene is not associated with arterial stiffness in apparently healthy individuals		134797		CDC	2006	These data do not support the hypothesis that aortic PWV or PP are influenced by the FBN-1 VNTR genotype. Although we cannot exclude small effects, this negative finding also suggests that there is not a major allele for stiffness or blood pressure in apparently healthy individuals linked to this VNTR.											
147594		aortic stiffness	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	15	15q21.1	FBN1	46487796	46725210			16540720				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDP info	2200	Hs.591133			J Appl Physiol    2006    100(4)    1431-2	Influence of fibrillin-1 genotype on aortic stiffness in men		134797		CDC	2006												
147596		Marfan syndrome	DEVELOPMENTAL	DEV	Marfan Syndrome	15	15q21.1	FBN1	46487796	46725210		Valiev, R. R.  et al. 2006	17209430				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDP info	2200	Hs.591133			Mol Biol (Mosk)    2006    40(6)    1021-30	AFBN1 gene in patients with Marfan syndrome		134797		CDC	2006												
147597		aneurysm, aortic	CARDIOVASCULAR	CARD	Marfan Syndrome|Aneurysm, Dissecting|Aortic Aneurysm	15	15q21.1	FBN1	46487796	46725210		Waldmuller, S.  et al. 2007	17418587				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDP info	2200	Hs.591133			Eur J Cardiothorac Surg    2007	Genetic testing in patients with aortic aneurysms/dissections		134797		CDC	2007	Detecting a mutation in the genes FBN1 and TGFBR2 proves the genetic origin of vascular findings and allows the identification of family members at risk who should undergo preventive checkups.											
147598	Y	otitis media	OTHER	OTH	Otitis Media with Effusion|Disease Models, Animal|Chronic Disease|Recurrence	2	2p16.3	FBXO11	47887562	47986318		Segade, F.  et al. 2006	16847180				F-box protein 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC043258			CDC GDP info	80204	Hs.352677			Arch Otolaryngol Head Neck Surg    2006    132(7)    729-33	Association of the FBXO11 Gene With Chronic Otitis Media With Effusion and Recurrent Otitis Media				CDC	2006	We have observed evidence consistent with an association between polymorphisms in FBXO11, the human homologue of the Jeff mouse model gene, and COME/ROM.											
147600		hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic	19	19q13.2-q13.4	FCAR	60077360	60093650		Watanabe, A.  et al. 2006	17033823			promoter	Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000.2			CDC GDP info	2204	Hs.631534			Immunogenetics    2006	Genetic variants of the IgA Fc receptor (FcalphaR, CD89) promoter in chronic hepatitis C patients		147045		CDC	2006												
147601		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	19	19q13.2-q13.4	FCAR	60077360	60093650		Wu, J.  et al. 2007	17339498				Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000.2			CDC GDP info	2204	Hs.631534			J Immunol    2007    178(6)    3973-82	Fc{alpha}RI (CD89) Alleles Determine the Proinflammatory Potential of Serum IgA		147045		CDC	2007												
147602	Y	atopy IgE urticaria, aspirin-intolerant	IMMUNE	IMM	Urticaria|Drug Hypersensitivity|Chronic Disease	1	1q23	FCER1A	157526129	157544638		Bae, J. S.  et al. 2006	17125826			promoter	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2	Korean		CDC GDP info	2205	Hs.897			J Allergy Clin Immunol    2006	Significant association of FcvarepsilonRIalpha promoter polymorphisms with aspirin-intolerant chronic urticaria		147140		CDC	2006	These results suggest that the -344C>T polymorphism of the FcepsilonRIalpha promoter may be associated with increased expression of FcepsilonRIalpha on mast cells and enhanced release of histamine. CLINICAL IMPLICATIONS: The FcepsilonRIalpha -344C>T polymorphism may contribute to the development of AICU.											
147603		airway hyperresponsiveness atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q23	FCER1A	157526129	157544638		Kim, Y. K.  et al. 2007	17430357				Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002001.2	Korean		CDC GDP info	2205	Hs.897			Clin Exp Allergy    2007    37(4)    592-8	Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness		147140		CDC	2007	In the Korean general population, AHR is significantly associated with the E237G polymorphism of FcepsilonRI-beta, which results in an intolerant amino acid substitution.											
147604		airway hyperresponsiveness atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	1	1q23	FCER1G	159451710	159455662		Kim, Y. K.  et al. 2007	17430357				Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004106.1	Korean		CDC GDP info	2207	Hs.433300			Clin Exp Allergy    2007    37(4)    592-8	Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness		147139		CDC	2007	In the Korean general population, AHR is significantly associated with the E237G polymorphism of FcepsilonRI-beta, which results in an intolerant amino acid substitution.											
147605	N	lactate dehydrogenase severe acute respiratory syndrome	METABOLIC	MET	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	19	19p13.3	FCER2	7659661	7672999		Chan, K. Y.  et al. 2007	17570115				Fc fragment of IgE, low affinity II, receptor for (CD23A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC027879			CDC GDP info	2208	Hs.465778			J Infect Dis    2007    196(2)    271-80	Association of ICAM3 Genetic Variant with Severe Acute Respiratory Syndrome		151445		CDC	2007												
147606	Y	glomerulopathy lupus nephritis	RENAL	REN	Glomerulonephritis|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Gelmetti, A. P.  et al. 2006	16511922				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Brazilian		CDC GDP info	2212	Hs.352642			J Rheumatol    2006    33(3)    523-30	Polymorphism of the FcgRIIa IgG Receptor in Patients with Lupus Nephritis and Glomerulopathy		146790		CDC	2006	The skewed distribution of FcgammaRIIalpha genotypes with the predominance of homozygous R/R131 genotype observed in patients with lupus nephritis over nonproliferative idiopathic glomerulonephritis emphasizes its importance as a heritable risk factor for immune complex mediated renal injury in Brazilian patients with lupus.											
147607	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427			16542359				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Clin Exp Immunol    2006    144(1)    10-6	Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis		146790		CDC	2006												
147608		respiratory tract infections	INFECTION	INF	Respiratory Tract Infections|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR2A	159741843	159760427		Ozturk, C.  et al. 2006	16550341				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Turkish		CDC GDP info	2212	Hs.352642			Clin Exp Med    2006    6(1)    27-32	Fc gamma RIIa, IIIa and IIIb polymorphisms in Turkish children susceptible to recurrent infectious diseases		146790		CDC	2006												
147610		brain cancer	PHARMACOGENOMIC	PHARM	Neuroblastoma	1	1q23	FCGR2A	159741843	159760427		Cheung, N. K.  et al. 2006	16682723				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			J Clin Oncol    2006	FCGR2A Polymorphism Is Correlated With Clinical Outcome Following Immunotherapy of Neuroblastoma With Anti-GD2 Antibody and Granulocyte Macrophage Colony-Stimulating Factor		146790		CDC	2006	The favorable outcome associated with FCGR2A (R/R) genotype is consistent with the proposed role of FCGR2A and phagocyte-mediated ADCC in 3F8 plus GM-CSF immunotherapy.		antibody immunotherapy									
147611	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		de Souza, R. C.  et al. 2006	16805673				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Brazilian		CDC GDP info	2212	Hs.352642			J Periodontol    2006    77(7)    1120-1128	Distribution of FcgammaRIIa and FcgammaRIIIb Genotypes in Patients With Generalized Aggressive Periodontitis		146790		CDC	2006	The data suggest that the FcgammaRIIIb-NA2 allele and/or FcgammaRIIIb-NA2/NA2 genotype and the composite genotype FcgammaRIIIb-NA2/NA2 plus FcgammaRIIa-H/H131 may be associated with GAgP, whereas FcgammaRIIIb-NA1 and/or FcgammaRIIIb-NA1/NA1 may be related to periodontal health in this sample of the Brazilian population.											
147612	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Morgan, A. W.  et al. 2006	16846526				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Arthritis Res Ther    2006    8(4)    R109	Association of FCGR2A and FCGR2A-FCGR3A haplotypes with susceptibility to giant cell arteritis		146790		CDC	2006												
147613	N	periodontal disease	IMMUNE	IMM	Periodontitis|Periodontal Pocket|Dental Plaque|Chronic Disease	1	1q23	FCGR2A	159741843	159760427		Wolf, D. L.  et al. 2006	16889631				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Caucasian		CDC GDP info	2212	Hs.352642			J Clin Periodontol    2006	Fcgamma receptor polymorphisms and periodontal status		146790		CDC	2006	The present data failed to demonstrate a clinically relevant relationship between the Fcgamma receptor IIa (131R/H) or IIIb (NA1/NA2) polymorphism and periodontal status.											
147614		longevity	AGING	AGE	Haemophilus Infections|Pneumonia, Bacterial|Pneumonia, Pneumococcal|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Flesch, B. K.  et al. 2006	16893392				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	German		CDC GDP info	2212	Hs.352642			Int J Immunogenet    2006    33(4)    277-279	The FCGR2A- Arg131 variant is no major mortality factor in the elderly - evidence from a German centenarian study		146790		CDC	2006												
147615		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Inflammation	1	1q23	FCGR2A	159741843	159760427		Wang, S. S.  et al. 2006	17018637				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Cancer Res    2006    66(19)    9771-80	Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-hodgkin lymphoma		146790		CDC	2006	common variants in genes influencing proinflammatory and innate immune responses were associated with non-Hodgkin lymphoma risk overall and their effects could vary by subtype. Our results require replication but potentially provide important clues for investigating common genetic variants as susceptibility factors and in disease outcomes, treatment responses, and immunotherapy targets. (Cancer Res 2006; 66(19): 9771-80).											
147617		anticardiolipin antibody production lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Hirankarn, N.  et al. 2006	17092253				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Thai		CDC GDP info	2212	Hs.352642			Tissue Antigens    2006    68(5)    399-406	The synergistic effect of FC gamma receptor IIa and interleukin-10 genes on the risk to develop systemic lupus erythematosus in Thai population		146790		CDC	2006												
147618		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2A	159741843	159760427		Balada, E.  et al. 2006	17092257				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Spain	CDC GDP info	2212	Hs.352642			Tissue Antigens    2006    68(5)    432-8	Multiplex family-based study in systemic lupus erythematosus		146790		CDC	2006												
147620		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Brown, E. E.  et al. 2007	17315188				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	European		CDC GDP info	2212	Hs.352642			Int J Cancer    2007	Common variants in genes that mediate immunity and risk of multiple myeloma		146790		CDC	2007												
147621			NORMALVARIATION	NV	Lymphoma, Non-Hodgkin	1	1q23	FCGR2A	159741843	159760427		Hatjiharissi, E.  et al. 2007	17324336				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Clin Lymphoma Myeloma    2007    7(4)    286-90	Genetic Linkage of FcgammaRIIa and FcgammaRIIIa and Implications for Their Use in Predicting Clinical Responses to CD20-Directed Monoclonal Antibody Therapy		146790		CDC	2007	Knowledge of such linkages could facilitate the development of diagnostic tests aimed at identifying patients who might be more suitable for treatment with rituximab and possibly other therapeutic antibodies.											
147623	N	Addison's disease	IMMUNE	IMM	Addison Disease	1	1q23	FCGR2A	159741843	159760427		Wolff, A. S.  et al. 2007	17523948				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Scand J Immunol    2007    65(6)    555-8	Fcgamma Receptor Polymorphisms are not Associated with Autoimmune Addison's Disease		146790		CDC	2007												
147624		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Nasr, A.  et al. 2007	17587350				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Scand J Immunol    2007    66(1)    87-96	Fc gamma Receptor IIa (CD32) Polymorphism and Antibody responses to Asexual Blood-stage Antigens of Plasmodium falciparum Malaria in Sudanese Patients		146790		CDC	2007												
147625		lymphoma	PHARMACOGENOMIC	PHARM	Lymphoma, Mantle-cell	1	1q23	FCGR2A	159741843	159760427		Galimberti, S.  et al. 2007	17594928				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			J Chemother    2007    19(3)    315-21	The Efficacy of Rituximab plus Hyper-CVAD Regimen in Mantle Cell Lymphoma Is Independent of FCgammaRIIIa and FCgammaRIIa Polymorphisms		146790		CDC	2007			rituximab									
147627	N	lymphoma	PHARMACOGENOMIC	PHARM	Lymphoma, B-Cell	1	1q23	FCGR2A	159741843	159760427		Mitrovic, Z.  et al. 2007	17606457				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Haematologica    2007    92(7)    998-9	FCgammaRIIIA and FCgammaRIIA polymorphisms are not associated with response to rituximab and CHOP in patients with diffuse large B-cell lymphoma		146790		CDC	2007			CHOP rituximab									
147628	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1q23	FCGR2B	159817761	159836656			16531013	FcgammaRIIB-50T-225C haplotype			Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDP info	2213	Hs.352642			J Dermatol Sci    2006	Association of Fcgamma receptor IIB gene polymorphism with genetic susceptibility to systemic lupus erythematosus in Chinese populations-A family-based association study		604590		CDC	2006	Our findings provide strong evidence suggesting the FcgammaRIIB-50T-225C haplotype might be the susceptible factor of SLE in Chinese population.											
147629	N	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Umemura, T.  et al. 2006	17020818				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDP info	2213	Hs.352642			Clin Immunol    2006	Lack of association between FCRL3 and FcgammaRII polymorphisms in Japanese type 1 autoimmune hepatitis		604590		CDC	2006												
147630	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Radstake, T. R.  et al. 2006	17133580				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDP info	2213	Hs.352642			Arthritis Rheum    2006    54(12)    3828-3837	The functional variant of the inhibitory Fcgamma receptor IIb (CD32B) is associated with the rate of radiologic joint damage and dendritic cell function in rheumatoid arthritis		604590		CDC	2006	This study is the first to show that a single genetic variant, the FCGR2B 695T>C polymorphism, is a critical determinant of disease severity in RA and radically changes DC behavior. Our results underscore the key role of DCs in the progression of RA and reveal FcgammaRIIb as an important potential therapeutic target in RA and other autoimmune conditions.											
147631	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Chen, J. Y.  et al. 2006	17133600				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1	Asian		CDC GDP info	2213	Hs.352642			Arthritis Rheum    2006    54(12)    3908-3917	Association of a transmembrane polymorphism of Fcgamma receptor IIb (FCGR2B) with systemic lupus erythematosus in Taiwanese patients		604590		CDC	2006	The FcgammaRIIb transmembrane polymorphism is a strong disease susceptibility candidate in epistasis with other genetic effects in Taiwanese and other Asian populations.											
147633		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Pan, F.  et al. 2007	17393178				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDP info	2213	Hs.352642			Arch Dermatol Res    2007    299(1)    47-51	Gln50Ter Polymorphism of Fcgamma receptor IIB gene associated with genetic susceptibility to human systemic lupus erythematosus in Chinese populations		604590		CDC	2007												
147634	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005			16542359				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Clin Exp Immunol    2006    144(1)    10-6	Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis		146740		CDC	2006												
147635		respiratory tract infections	INFECTION	INF	Respiratory Tract Infections|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR3A	159778174	159787005		Ozturk, C.  et al. 2006	16550341				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Turkish		CDC GDP info	2214	Hs.372679			Clin Exp Med    2006    6(1)    27-32	Fc gamma RIIa, IIIa and IIIb polymorphisms in Turkish children susceptible to recurrent infectious diseases		146740		CDC	2006												
147636		lymphoma	PHARMACOGENOMIC	PHARM	Lymphoma, B-Cell|Lymphoma, Large-cell, Diffuse	1	1q23	FCGR3A	159778174	159787005		Kim, D. H.  et al. 2006	16609067				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Blood    2006	FcGRIIIa gene polymorphisms may correlate with response to frontline R-CHOP therapy for diffuse large B-cell lymphoma		146740		CDC	2006			CHOP therapy rituximab									
147637		brain cancer	PHARMACOGENOMIC	PHARM	Neuroblastoma	1	1q23	FCGR3A	159778174	159787005		Cheung, N. K.  et al. 2006	16682723				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			J Clin Oncol    2006	FCGR2A Polymorphism Is Correlated With Clinical Outcome Following Immunotherapy of Neuroblastoma With Anti-GD2 Antibody and Granulocyte Macrophage Colony-Stimulating Factor		146740		CDC	2006	The favorable outcome associated with FCGR2A (R/R) genotype is consistent with the proposed role of FCGR2A and phagocyte-mediated ADCC in 3F8 plus GM-CSF immunotherapy.		antibody immunotherapy									
147639	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Morgan, A. W.  et al. 2006	16846526				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Arthritis Res Ther    2006    8(4)    R109	Association of FCGR2A and FCGR2A-FCGR3A haplotypes with susceptibility to giant cell arteritis		146740		CDC	2006												
147640	P		NORMALVARIATION	NV		1	1q23	FCGR3A	159778174	159787005		Chong, K. T.  et al. 2006	16981896				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Chinese;Indian;Singapore;Asian		CDC GDP info	2214	Hs.372679			Br J Clin Pharmacol    2006	Distribution of the FcgammaRIIIa 176 F/V polymorphism amongst healthy Chinese, Malays and Asian Indians in Singapore		146740		CDC	2006	The genotype distributions of the FcgammaRIIIa 176 V/F polymorphism in healthy Malays are significantly different from both Chinese and Indians. These observations provide the fundamentals on which future disease associations may be built and also present important implications for the design of therapeutic regimens amongst various ethnic groups.											
147641		Crohn's disease	PHARMACOGENOMIC	PHARM	Crohn Disease	1	1q23	FCGR3A	159778174	159787005		Louis, E. J.  et al. 2006	17108815				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Pharmacogenet Genomics    2006    16(12)    911-914	Polymorphism in IgG Fc receptor gene FCGR3A and response to infliximab in Crohn's disease		146740		CDC	2006			infliximab									
147642	N	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1q23	FCGR3A	159778174	159787005		Kastbom, A.  et al. 2007	17265480				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6	Swedish;European		CDC GDP info	2214	Hs.372679			Arthritis Rheum    2007    56(2)    448-452	Fcgamma receptor type IIIA genotype and response to tumor necrosis factor alpha-blocking agents in patients with rheumatoid arthritis		146740		CDC	2007	Unlike the findings of a previous study, the results of the current study suggest that the 158V/F polymorphism of FcgammaRIIIA is very unlikely to influence the clinical efficacy of infliximab or etanercept in patients with RA.		etanercept infliximab									
147643	P		NORMALVARIATION	NV	Lymphoma, Non-Hodgkin	1	1q23	FCGR3A	159778174	159787005		Hatjiharissi, E.  et al. 2007	17324336				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Clin Lymphoma Myeloma    2007    7(4)    286-90	Genetic Linkage of FcgammaRIIa and FcgammaRIIIa and Implications for Their Use in Predicting Clinical Responses to CD20-Directed Monoclonal Antibody Therapy		146740		CDC	2007	Knowledge of such linkages could facilitate the development of diagnostic tests aimed at identifying patients who might be more suitable for treatment with rituximab and possibly other therapeutic antibodies.											
147644		lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Kobayashi, T.  et al. 2007	17335370				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		146740		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
147646	N	Addison's disease	IMMUNE	IMM	Addison Disease	1	1q23	FCGR3A	159778174	159787005		Wolff, A. S.  et al. 2007	17523948				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Scand J Immunol    2007    65(6)    555-8	Fcgamma Receptor Polymorphisms are not Associated with Autoimmune Addison's Disease		146740		CDC	2007												
147647		lymphoma	PHARMACOGENOMIC	PHARM	Lymphoma, Mantle-cell	1	1q23	FCGR3A	159778174	159787005		Galimberti, S.  et al. 2007	17594928				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			J Chemother    2007    19(3)    315-21	The Efficacy of Rituximab plus Hyper-CVAD Regimen in Mantle Cell Lymphoma Is Independent of FCgammaRIIIa and FCgammaRIIa Polymorphisms		146740		CDC	2007			rituximab									
147648	Y	arthritis lymphopenia nephritis, lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Jonsen, A.  et al. 2007	17596285				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Rheumatology (Oxford)    2007	Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa genes		146740		CDC	2007												
147650	N	lymphoma	PHARMACOGENOMIC	PHARM	Lymphoma, B-Cell	1	1q23	FCGR3A	159778174	159787005		Mitrovic, Z.  et al. 2007	17606457				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Haematologica    2007    92(7)    998-9	FCgammaRIIIA and FCgammaRIIA polymorphisms are not associated with response to rituximab and CHOP in patients with diffuse large B-cell lymphoma		146740		CDC	2007			CHOP rituximab									
147651	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525			16542359				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			Clin Exp Immunol    2006    144(1)    10-6	Association of rheumatoid factor production with FcgammaRIIIa polymorphism in Taiwanese rheumatoid arthritis		610665		CDC	2006												
147652		respiratory tract infections	INFECTION	INF	Respiratory Tract Infections|Genetic Predisposition to Disease|Recurrence	1	1q23	FCGR3B	159859676	159867525		Ozturk, C.  et al. 2006	16550341				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Turkish		CDC GDP info	2215	Hs.372679			Clin Exp Med    2006    6(1)    27-32	Fc gamma RIIa, IIIa and IIIb polymorphisms in Turkish children susceptible to recurrent infectious diseases		610665		CDC	2006												
147653	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		de Souza, R. C.  et al. 2006	16805673				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Brazilian		CDC GDP info	2215	Hs.372679			J Periodontol    2006    77(7)    1120-1128	Distribution of FcgammaRIIa and FcgammaRIIIb Genotypes in Patients With Generalized Aggressive Periodontitis		610665		CDC	2006	The data suggest that the FcgammaRIIIb-NA2 allele and/or FcgammaRIIIb-NA2/NA2 genotype and the composite genotype FcgammaRIIIb-NA2/NA2 plus FcgammaRIIa-H/H131 may be associated with GAgP, whereas FcgammaRIIIb-NA1 and/or FcgammaRIIIb-NA1/NA1 may be related to periodontal health in this sample of the Brazilian population.											
147656		lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Kobayashi, T.  et al. 2007	17335370				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		610665		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
147657	N	Addison's disease	IMMUNE	IMM	Addison Disease	1	1q23	FCGR3B	159859676	159867525		Wolff, A. S.  et al. 2007	17523948				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			Scand J Immunol    2007    65(6)    555-8	Fcgamma Receptor Polymorphisms are not Associated with Autoimmune Addison's Disease		610665		CDC	2007												
147658	Y	Addison's disease Graves' disease lupus erythematosus polyangitis Wegener's granulomatosis	IMMUNE	IMM	Wegener Granulomatosis|Autoimmune Diseases|Lupus Erythematosus, Systemic|Disease Susceptibility|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Fanciulli, M.  et al. 2007	17529978	FCGR3B copy number variation			Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			Nat Genet    2007	FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity		610665		CDC	2007												
147660	Y	arthritis lymphopenia nephritis, lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR3B	159859676	159867525		Jonsen, A.  et al. 2007	17596285				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			Rheumatology (Oxford)    2007	Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa genes		610665		CDC	2007												
147661		Behcet's disease	IMMUNE	IMM	Behcet Syndrome	9	9q34.3	FCN2	136912478	136919187		Chen, X.  et al. 2006	16839748				Ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK096112	Caucasian		CDC GDP info	2220	Hs.54517			J Dermatol Sci    2006	Single nucleotide polymorphisms of Ficolin 2 gene in Behcet's disease		601624		CDC	2006	The significant differences in allele frequencies of FCN2 gene SNPs in the promoter lesions (-557 and -64 sites) among HLA-B51 positive BD patients may reveal the possibility that ficolin may contribute to the innate immunity of BD among HLA-B51 haplotypes in BD patients.											
147662	N	pneumococcal disease	INFECTION	INF	Pneumococcal Infections|Genetic Predisposition to Disease	9	9q34.3	FCN2	136912478	136919187		Chapman, S. J.  et al. 2007	17382393				Ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK096112	Caucasian		CDC GDP info	2220	Hs.54517			Mol Immunol    2007	Functional polymorphisms in the FCN2 gene are not associated with invasive pneumococcal disease		601624		CDC	2007												
147663	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Ikari, K.  et al. 2006	16176992			promoter	Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Ann Rheum Dis    2006    65(5)    671-3	Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis				CDC	2006	This result supports a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis.											
147665	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Martinez, A.  et al. 2006	16476711				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Spanish;Spanish;Japanese;Caucasian		CDC GDP info	115352	Hs.292449			Ann Rheum Dis    2006	Epistatic interaction between FCRL3 and NFKB1 genes in Spanish Rheumatoid Arthritis patients				CDC	2006	The FCRL3 polymorphisms associated with rheumatoid arthritis in a Japanese population are not associated per se with rheumatoid arthritis in a Spanish population.											
147666		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399			16519819				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases				CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
147667	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q21-q22	FCRL3	155912894	155937399		Eyre, S.  et al. 2006	16859508				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Japanese;European		CDC GDP info	115352	Hs.292449			Arthritis Res Ther    2006    8(4)    R117	Association of the FCRL3 gene with RA				CDC	2006												
147668		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Turunen, J. A.  et al. 2006	16911635				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Diabet Med    2006    23(8)    925-7	The functional variant -169C/T in the FCRL3 gene does not increase susceptibility to Type 1 diabetes				CDC	2006												
147669	N	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Umemura, T.  et al. 2006	17020818				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Clin Immunol    2006	Lack of association between FCRL3 and FcgammaRII polymorphisms in Japanese type 1 autoimmune hepatitis				CDC	2006												
147670		alopecia areata	IMMUNE	IMM	Alopecia Areata|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Schafer, N.  et al. 2006	17117947				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Int J Immunogenet    2006    33(6)    393-395	Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 (FCRL3) gene in alopecia areata				CDC	2006												
147672		lupus erythematosus rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Choi, C. B.  et al. 2006	17133581				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Japanese;Korean		CDC GDP info	115352	Hs.292449			Arthritis Rheum    2006    54(12)    3838-3841	The -169C/T polymorphism in FCRL3 is not associated with susceptibility to rheumatoid arthritis or systemic lupus erythematosus in a case-control study of Koreans				CDC	2006	The association of the -169C/T SNP in FCRL3 with RA and SLE that was observed in Japanese patients was not replicated in a Korean population.											
147673		lupus erythematosus rheumatoid arthritis thyroid disease, autoimmune	IMMUNE	IMM	Thyroid Diseases|Hashimoto Disease|Autoimmune Diseases|Graves Disease|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Shirasawa, S.  et al. 2006	17154080				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Nippon Rinsho    2006    64(12)    2208-14	Susceptibility genes for the development of autoimmune thyroid disease				CDC	2006												
147674	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Thabet, M. M.  et al. 2006	17179172			promoter	Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Japanese;Caucasian		CDC GDP info	115352	Hs.292449			Ann Rheum Dis    2006	FCRL3 promoter 169 CC homozygosity is associated with susceptibility to rheumatoid arthritis in Dutch Caucasians				CDC	2006	A promoter polymorphism of FCRL3 (rs7528684) is associated with an increased risk of developing RA in Dutch Caucasians, suggesting that this association is relevant for RA in both Japanese and Caucasian populations.											
147675	Y	Addison's disease diabetes, type 1 Graves' disease rheumatoid arthritis	IMMUNE	IMM	Autoimmune Diseases	1	1q21-q22	FCRL3	155912894	155937399		Owen, C. J.  et al. 2007	17200162				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Japanese;Caucasian;New Zealand		CDC GDP info	115352	Hs.292449			J Clin Endocrinol Metab    2007	ANALYSIS OF THE FC-RECEPTOR LIKE-3 (FCRL3) LOCUS IN CAUCASIANS WITH AUTOIMMUNE DISORDERS SUGGESTS A COMPLEX PATTERN OF DISEASE ASSOCIATION				CDC	2007	The FCRL3 haplotype that is associated with AAD in Caucasians appears to be protective for autoimmune diseases in the Japanese population, demonstrating that this haplotype is unlikely to contain a single primary etiological allele for autoimmunity.											
147676		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Martinez, A.  et al. 2007	17389014				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			Tissue Antigens    2007    69(4)    313-7	Epistatic interaction between FCRL3 and MHC in Spanish patients with IBD				CDC	2007												
147678		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22	FDPS	153545303	153557080		Wollmer, M. A.  et al. 2007	17387528				Farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK021828	European		CDC GDP info	2224	Hs.335918			Neurogenetics    2007	Association study of cholesterol-related genes in Alzheimer's disease		134629		CDC	2007	genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.											
147679	Y	polycystic ovarian syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	19	19p13.3	FEM1A	4742727	4746571			16390781				Fem-1 homolog a (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018708	Caucasian		CDC GDP info	55527	Hs.515082			Gynecol Endocrinol    2005    21(6)    330-5	FEM1A is a candidate gene for polycystic ovary syndrome				CDC	2005	FEM1A should be considered a candidate gene for PCOS, and more extensive analysis of FEM1A, both coding and regulatory sequences, is warranted in patients and families with PCOS.											
147681			CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4q28	FGA	155723729	155731347		Moral, P.  et al. 2003	14746139				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	European		CDC GDP info	2243	Hs.351593			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		134820		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
147682		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	4	4q28	FGA	155723729	155731347		Falkowski, A.  et al. 2005	16466010				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		134820		CDC	2005			streptokinase									
147683		fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Mannila, M. N.  et al. 2006	16525568				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			Thromb Haemost    2006    95(3)    420-7	Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction		134820		CDC	2006												
147684		fibrinogen heart disease, ischemic tissue plasminogen activator level	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Kathiresan, S.  et al. 2006	16614319				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			Arterioscler Thromb Vasc Biol    2006	Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk		134820		CDC	2006	A comprehensive survey of common sequence variation demonstrates that cis-regulatory SNPs explain a modest proportion of the residual variance in circulating fibrinogen and factor VII level and PLAT haplotypes increase the risk of CVD. Additional studies are warranted to confirm the association of PLAT sequence variation and risk of CVD.											
147685	Y	fibrinogen	HEMATOLOGICAL	HEM	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Reiner, A. P.  et al. 2006	16706972				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3	European		CDC GDP info	2243	Hs.351593			J Thromb Haemost    2006    4(6)    1279-87	Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels		134820		CDC	2006	In young adults, fibrinogen multi-locus genotypes are associated with plasma fibrinogen levels. The specific single nucleotide polymorphism and haplotype patterns for these associations differ according to population and also according to phenotypic assay. It is likely that a substantial proportion of the heritable component of plasma fibrinogen concentration is due to genetic variation outside the three fibrinogen genes.											
147686		fibrinogen Il-6 myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGA	155723729	155731347		Mannila, M. N.  et al. 2007	17241179				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			J Intern Med    2007    261(2)    138-47	The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration		134820		CDC	2007	In healthy men, fibrinogen haplotypes are associated with serum IL-6 concentrations in a manner consistent with their impact on MI risk.											
147687	Y	fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Mannila, M. N.  et al. 2007	17263791	FGA 2224G			Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			J Thromb Haemost    2007	Elevated plasma fibrinogen gamma' concentration is associated with myocardial infarction		134820		CDC	2007	Plasma fibrinogen gamma\ concentration influences the risk of MI, and this relationship seems to be strengthened by the presence of an elevated total plasma fibrinogen concentration and the FGG 9340T and FGA 2224G alleles.											
147688	N	atherosclerosis, coronary atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease|Coronary Artery Disease|Aortic Diseases|Calcinosis|Genetic Predisposition to Disease	4	4q28	FGA	155723729	155731347		Kardys, I.  et al. 2007	17264959				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3		Netherlands	CDC GDP info	2243	Hs.351593			Thromb Haemost    2007    97(2)    288-95	Fibrinogen gene haplotypes in relation to risk of coronary events and coronary and extracoronary atherosclerosis		134820		CDC	2007	fibrinogen FGG and FGA gene haplotypes are not associated with coronary events, coronary atherosclerosis or extracoronary atherosclerosis.											
147689	Y	thromboembolism, venous	CARDIOVASCULAR	CARD		4	4q28	FGA	155723729	155731347		Rasmussen-Torvik, L. J.  et al. 2007	17433418	FGA Thr312Ala			Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			Thromb Res    2007	The association of alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism in the LITE study		134820		CDC	2007	These results suggest that alpha-fibrinogen Thr312Ala is involved in the pathogenesis of VTE and that its action may be modified by other VTE risk factors.		body mass									
147690		thromboembolism, venous	CARDIOVASCULAR	CARD		4	4q28	FGA	155723729	155731347		Le Gal, G.  et al. 2007	17568659				Fibrinogen alpha chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000508.3			CDC GDP info	2243	Hs.351593			Thromb Res    2007	Fibrinogen Aalpha-Thr312Ala and factor XIII-A Val34Leu polymorphisms in idiopathic venous thromboembolism		134820		CDC	2007	were analysed using a conditional logistic regression model for matched series.											
147691			CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4q28	FGB	155703595	155711688		Moral, P.  et al. 2003	14746139				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	European		CDC GDP info	2244	Hs.300774			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		134830		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
147693	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGB	155703595	155711688			16420563				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2		United States	CDC GDP info	2244	Hs.300774			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		134830		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
147694		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension|Disease Susceptibility	4	4q28	FGB	155703595	155711688		Gao, X.  et al. 2006	16443328				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Neurosci Lett    2006	Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke		134830		CDC	2006			alcohol smoking (tobacco)									
147695		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	4	4q28	FGB	155703595	155711688		Falkowski, A.  et al. 2005	16466010				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		134830		CDC	2005			streptokinase									
147698		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Komitopoulou, A.  et al. 2006	16567932				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		134830		CDC	2006	Except for FVL, no definite											
147699		cerebral infarct	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Ma, A.  et al. 2006	16604498				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    202-4	A linkage between beta-fibrinogen gene -148C/T polymorphism and cerebral infarction.		134830		CDC	2006	High plasma fibrinogen level is a risk factor to cerebral infarction.											
147700		fibrinogen heart disease, ischemic tissue plasminogen activator level	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Kathiresan, S.  et al. 2006	16614319				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Arterioscler Thromb Vasc Biol    2006	Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk		134830		CDC	2006	A comprehensive survey of common sequence variation demonstrates that cis-regulatory SNPs explain a modest proportion of the residual variance in circulating fibrinogen and factor VII level and PLAT haplotypes increase the risk of CVD. Additional studies are warranted to confirm the association of PLAT sequence variation and risk of CVD.											
147701		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	4	4q28	FGB	155703595	155711688		Coulam, C. B.  et al. 2006	16635210				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		134830		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
147702		insulin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Metabolic Syndrome X|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Maumus, S.  et al. 2006	16697386				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	French		CDC GDP info	2244	Hs.300774			Atherosclerosis    2006	Analysis of the effect of multiple genetic variants of cardiovascular disease risk on insulin concentration variability in healthy adults of the STANISLAS cohort The role of FGB -455 G/A polymorphism		134830		CDC	2006			alcohol body mass smoking (tobacco)									
147703	Y	fibrinogen	HEMATOLOGICAL	HEM	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Reiner, A. P.  et al. 2006	16706972				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	European		CDC GDP info	2244	Hs.300774			J Thromb Haemost    2006    4(6)    1279-87	Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels		134830		CDC	2006	In young adults, fibrinogen multi-locus genotypes are associated with plasma fibrinogen levels. The specific single nucleotide polymorphism and haplotype patterns for these associations differ according to population and also according to phenotypic assay. It is likely that a substantial proportion of the heritable component of plasma fibrinogen concentration is due to genetic variation outside the three fibrinogen genes.											
147704		pulmonary thromboembolism	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Zhai, Z. G.  et al. 2006	16750002				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(2)    165-9	Study on the relationship between polymorphisms of susceptible genes in coagulation pathway related to pulmonary thromboembolism in Chinese Han population.		134830		CDC	2006	There was a complete linkage disequilibrium between fibrinogen beta -148C/T and -455G/A found. The frequencies of -455A, alleles in PTE disease were apparently higher than that of healthy adults but there was no difference in -148T alleles.											
147705	Y	stroke, ischemic	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Liang, L.  et al. 2006	16767673				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    316-9	A related analysis for alpha, beta fibrinogen gene haplotypes and nucleotide polymorphisms associated with the ischemic stroke in Hainan Han population.		134830		CDC	2006	The results of multi-allele and haplotype analysis indicated that the polymorphisms -455 G/A, -148 C/T, 448 G/A in beta fibrinogen gene were the possible risk factors associated with the occurrence of ischemic stroke in Hainan Han population.											
147706		cholesterol cholesterol, LDL lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	4	4q28	FGB	155703595	155711688		Choumerianou, D. M.  et al. 2006	16776623				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Clin Chem Lab Med    2006    44(7)    799-806	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia		134830		CDC	2006	These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.											
147707	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	4	4q28	FGB	155703595	155711688		Pongracz, E.  et al. 2006	16899909				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Clin Hemorheol Microcirc    2006    35(1-2)    75-82	Contribution of the -455G/A polymorphism at beta-fibrinogen gene and of the Leiden mutation to hemorheological parameters in ischemic stroke patients		134830		CDC	2006	Our findings support the notion that the homozigous variant of beta-FIB gene can raise both plasma FIB concentration and whole blood viscosity. Leiden mutation connected to the elevation of plasma viscosity could demonstrate a new pathway of increased thrombophylic potential in ischemic stroke patients.											
147708	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Goodman, C. S.  et al. 2006	16938111				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		134830		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
147709			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Hoppe, B.  et al. 2006	17003923				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	German		CDC GDP info	2244	Hs.300774			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		134830		CDC	2006												
147710		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Yilmaz, S.  et al. 2006	17111197				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		134830		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
147711	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	4	4q28	FGB	155703595	155711688		Carlson, C. S.  et al. 2006	17115186				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		134830		CDC	2006												
147712	Y	sepsis	INFECTION	INF	Sepsis	4	4q28	FGB	155703595	155711688		Manocha, S.  et al. 2006	17116333	GAA			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2	Caucasian		CDC GDP info	2244	Hs.300774			J Infect    2006	Fibrinogen-beta gene haplotype is associated with mortality in sepsis		134830		CDC	2006	Haplotype GAA in FGB is associated with lower mortality and lower severity of organ dysfunction.											
147714		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	4	4q28	FGB	155703595	155711688		Xing, H.  et al. 2006	17160939				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    622-6	Association of fibrinogen B beta -1420G/A, -993C/T and -854G/A gene polymorphism with coronary heart diseas.		134830		CDC	2006	This study suggests -1420G/A polymorphism may be associated with occurrence of coronary heart disease.											
147715		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Komitopoulou, A.  et al. 2006	17230042				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		134830		CDC	2006												
147717	N	C-reactive protein fibrinogen	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Inflammation	4	4q28	FGB	155703595	155711688		de Maat, M. P.  et al. 2007	17264952				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Thromb Haemost    2007    97(2)    234-9	Genetic variation in estrogen receptor, C-reactive protein and fibrinogen does not predict the plasma levels of inflammation markers after longterm hormone replacement therapy		134830		CDC	2007	higher plasma levels of CRP and lower plasma levels of fibrinogen were observed in women using HRT; however, genetic polymorphisms in ESR1, CRP and FGB were not associated with these effects of HRT.		hormone replacement therapy									
147719	P		NORMALVARIATION	NV		4	4q28	FGB	155703595	155711688		Shammaa, D. M.  et al. 2007	17497226				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Mol Biol Rep    2007	Frequency distribution of the G/A alleles of the beta-fibrinogen gene in the Lebanese population		134830		CDC	2007												
147720	Y	thromboembolism, venous	CARDIOVASCULAR	CARD		4	4q28	FGB	155703595	155711688		Cushman, M.  et al. 2007	17582472	beta-fibrinogen -455 G/A,			Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Thromb Res    2007	Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis		134830		CDC	2007	beta-fibrinogen -455 G/A, but not factor XIII 100 G/T, was associated with a lower risk of venous thrombosis in this general population sample. beta-fibrinogen -455 A may attenuate the increased thrombosis risk associated with obesity or factor V Leiden.		obesity									
147721		hypospadias	METABOLIC	MET	Hypospadias	5	5p13-p12	FGF10	44340853	44424541		Beleza-Meireles, A.  et al. 2007	17264867				Fibroblast growth factor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC105021			CDC GDP info	2255	Hs.664499			Eur J Hum Genet    2007	FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias		602115		CDC	2007												
147722		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	5	5q31	FGF1	141953305	142057802		Hwang, Y.  et al. 2006	16886895				Fibroblast growth factor 1 (acidic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000800.2			CDC GDP info	2246	Hs.483635			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		131220		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
147724		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	8	8p22-p21.3	FGF20	16894704	16904045		Satake, W.  et al. 2007	17515805				Fibroblast growth factor 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019851.1		Japan	CDC GDP info	26281	Hs.199905			Neuroreport    2007    18(9)    937-940	Fibroblast growth factor 20 gene and Parkinson's disease in the Japanese population		605558		CDC	2007												
147725		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease|Neovascularization, Pathologic	4	4q26-q27	FGF2	123967312	124038840		Butt, C.  et al. 2007	17204151				Fibroblast growth factor 2 (basic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002006.3			CDC GDP info	2247	Hs.284244			BMC Musculoskelet Disord    2007    8    1	VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis		134920		CDC	2007	The T allele of VEGF in +936 may act as a protective allele in the development of PsA. Further studies regarding the role of pro-angiogenic markers in PsA are warranted.											
147726		hypospadias	METABOLIC	MET	Hypospadias	10	10q24	FGF8	103519876	103525817		Beleza-Meireles, A.  et al. 2007	17264867				Fibroblast growth factor 8 (androgen-induced)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033163			CDC GDP info	2253	Hs.57710			Eur J Hum Genet    2007	FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias		600483		CDC	2007												
147727		tooth agenesis	DEVELOPMENTAL	DEV	Anodontia|Genetic Predisposition to Disease	8	8p11.2-p11.1	FGFR1	38387812	38445509		Vieira, A. R.  et al. 2007	17318851				Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023110			CDC GDP info	2260	Hs.264887			Am J Med Genet A    2007    143(6)    538-45	Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis		136350		CDC	2007												
147728		craniosynostosis	OTHER	OTH	Craniosynostoses	8	8p11.2-p11.1	FGFR1	38387812	38445509		Seto, M. L.  et al. 2007	17343269				Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023110			CDC GDP info	2260	Hs.264887			Am J Med Genet A    2007	Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations		136350		CDC	2007												
147729		hypospadias	METABOLIC	MET	Hypospadias	10	10q26	FGFR2	123227844	123347962		Beleza-Meireles, A.  et al. 2007	17264867				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3			CDC GDP info	2263	Hs.533683			Eur J Hum Genet    2007	FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias		176943		CDC	2007												
147730		craniosynostosis	OTHER	OTH	Craniosynostoses	10	10q26	FGFR2	123227844	123347962		Seto, M. L.  et al. 2007	17343269				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3			CDC GDP info	2263	Hs.533683			Am J Med Genet A    2007	Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations		176943		CDC	2007												
147731		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q26	FGFR2	123227844	123347962		Easton, D. F. et al.  et al. 2007	17529967				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3	European		CDC GDP info	2263	Hs.533683			Nature    2007	Genome-wide association study identifies novel breast cancer susceptibility loci		176943		CDC	2007												
147732		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q26	FGFR2	123227844	123347962		Hunter, D. J.  et al. 2007	17529973				Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000141.3	European		CDC GDP info	2263	Hs.533683			Nat Genet    2007	A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer		176943		CDC	2007	results from the GWAS are available online in a form that should speed the identification of additional risk loci.											
147733	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	4	4p16.3	FGFR3	1764831	1780396		Hernandez, S.  et al. 2006	16877735				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			CDC GDP info	2261	Hs.1420			J Clin Oncol    2006    24(22)    3664-71	Prospective study of FGFR3 mutations as a prognostic factor in nonmuscle invasive urothelial bladder carcinomas		134934		CDC	2006	The findings of this large study strongly support the notion that FGFR3 mutations characterize a subgroup of bladder cancers with good prognosis; patients with mutant TaG1 tumors have a higher risk of recurrence; and the F386L variant is selectively associated with low-grade tumors.											
147734		craniosynostosis	OTHER	OTH	Craniosynostoses	4	4p16.3	FGFR3	1764831	1780396		Seto, M. L.  et al. 2007	17343269				Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000142.2			CDC GDP info	2261	Hs.1420			Am J Med Genet A    2007	Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations		134934		CDC	2007												
147735	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	5	5q35.1-qter	FGFR4	176446526	176457732		Streit, S.  et al. 2006	16721364				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			Br J Cancer    2006	FGFR4 Arg388 allele correlates with tumour thickness and FGFR4 protein expression with survival of melanoma patients		134935		CDC	2006	the Arg388 genotype and the protein expression of FGFR4 may be potential markers for progression of melanoma.											
147738	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	5	5q35.1-qter	FGFR4	176446526	176457732		Yang, Y. C.  et al. 2006	17088904				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			Br J Cancer    2006	Joint association of polymorphism of the FGFR4 gene and mutation TP53 gene with bladder cancer prognosis		134935		CDC	2006												
147739	Y	lung cancer	CANCER	CAN		5	5q35.1-qter	FGFR4	176446526	176457732		Marks, J. L.  et al. 2007	17487277				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		134935		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
147740		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	5	5q35.1-qter	FGFR4	176446526	176457732		Matakidou, A.  et al. 2007	17519899				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			Br J Cancer    2007	Further observations on the relationship between the FGFR4 Gly388Arg polymorphism and lung cancer prognosis		134935		CDC	2007												
147741		fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGG	155744735	155753352		Mannila, M. N.  et al. 2006	16525568				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDP info	2266	Hs.546255			Thromb Haemost    2006    95(3)    420-7	Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction		134850		CDC	2006												
147742		fibrinogen heart disease, ischemic tissue plasminogen activator level	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Genetic Predisposition to Disease	4	4q28	FGG	155744735	155753352		Kathiresan, S.  et al. 2006	16614319				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDP info	2266	Hs.546255			Arterioscler Thromb Vasc Biol    2006	Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk		134850		CDC	2006	A comprehensive survey of common sequence variation demonstrates that cis-regulatory SNPs explain a modest proportion of the residual variance in circulating fibrinogen and factor VII level and PLAT haplotypes increase the risk of CVD. Additional studies are warranted to confirm the association of PLAT sequence variation and risk of CVD.											
147743	Y	fibrinogen	HEMATOLOGICAL	HEM	Cardiovascular Diseases|Genetic Predisposition to Disease	4	4q28	FGG	155744735	155753352		Reiner, A. P.  et al. 2006	16706972				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4	European		CDC GDP info	2266	Hs.546255			J Thromb Haemost    2006    4(6)    1279-87	Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels		134850		CDC	2006	In young adults, fibrinogen multi-locus genotypes are associated with plasma fibrinogen levels. The specific single nucleotide polymorphism and haplotype patterns for these associations differ according to population and also according to phenotypic assay. It is likely that a substantial proportion of the heritable component of plasma fibrinogen concentration is due to genetic variation outside the three fibrinogen genes.											
147744		fibrinogen Il-6 myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	4	4q28	FGG	155744735	155753352		Mannila, M. N.  et al. 2007	17241179				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDP info	2266	Hs.546255			J Intern Med    2007    261(2)    138-47	The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration		134850		CDC	2007	In healthy men, fibrinogen haplotypes are associated with serum IL-6 concentrations in a manner consistent with their impact on MI risk.											
147745	Y	fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGG	155744735	155753352		Mannila, M. N.  et al. 2007	17263791	FGG 9340T			Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDP info	2266	Hs.546255			J Thromb Haemost    2007	Elevated plasma fibrinogen gamma' concentration is associated with myocardial infarction		134850		CDC	2007	Plasma fibrinogen gamma\ concentration influences the risk of MI, and this relationship seems to be strengthened by the presence of an elevated total plasma fibrinogen concentration and the FGG 9340T and FGA 2224G alleles.											
147747	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD		4	4q28	FGG	155744735	155753352		Grunbacher, G.  et al. 2007	17445871	FGG 10034C>T			Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4			CDC GDP info	2266	Hs.546255			Thromb Res    2007	The fibrinogen gamma (FGG) 10034C>T polymorphism is associated with venous thrombosis		134850		CDC	2007	Our data confirm the primary finding that the FGG 10034C>T polymorphism is associated with DVT risk.											
147748	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	3	3p14.2	FHIT	59710075	61212164		Levin, A. M.  et al. 2007	17548701				fragile histidine triad gene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1	African American;Caucasian		CDC GDP info	2272	Hs.196981			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1294-7	Association between Germline Variation in the FHIT Gene and Prostate Cancer in Caucasians and African Americans		601153		CDC	2007												
147749	N	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p14.2	FHIT	59710075	61212164		Jung, H. Y.  et al. 2007	17609851				fragile histidine triad gene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002012.1	Korean		CDC GDP info	2272	Hs.196981			J Hum Genet    2007	Lack of association of fragile histidine triad (FHIT) polymorphisms with lung cancer in the Korean population		601153		CDC	2007												
147750	Y	glucose insulin	METABOLIC	MET		X	Xq26	FHL1	135057345	135121176		Teran-Garcia, M.  et al. 2007	17589823				Four and a half LIM domains 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122708			CDC GDP info	2273	Hs.435369			Diabetologia    2007	Variations in the four and a half LIM domains 1 gene (FHL1) are associated with fasting insulin and insulin sensitivity responses to regular exercise				CDC	2007	 Fasting insulin and S (I) responses to exercise training were associated with DNA sequence variation in FHL1 in white men. Whether these associations exist only in white men remains to be investigated.		physical activity									
147752		Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR		6	6q16.1-q16.3	FHL5	97117155	97171233		Belbin, O.  et al. 2007	17368652				Four and a half LIM domains 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020482			CDC GDP info	9457	Hs.632608			Neurobiol Aging    2007	A SNP in the ACT gene associated with astrocytosis and rapid cognitive decline in AD				CDC	2007												
147753	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	FIBL-6				Seitsonen, S.  et al. 2006	16885922				hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935	Caucasian;Finnish		CDC GDP info	83872	Hs.58877			Mol Vis    2006    12    796-801	Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population				CDC	2006	The CFH gene polymorphism seems to be an important etiologic factor for AMD also in the isolated Finnish population.											
147754	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	FIBL-6				Bojanowski, C. M.  et al. 2005	17057786				hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935			CDC GDP info	83872	Hs.58877			Trans Am Ophthalmol Soc    2005    103    37-44; discussion 44-5	Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration				CDC	2005	We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.											
147756		macular degeneration	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	FIBL-6				Fisher, S. A.  et al. 2007	17216616				hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935			CDC GDP info	83872	Hs.58877			Hum Mutat    2007	Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)				CDC	2007												
147757		glomerular filtration rate macular degeneration	OTHER	OTH	Macular Degeneration	1	1q25.3-q31.1	FIBL-6				Thompson, C. L.  et al. 2007	17591627				hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935			CDC GDP info	83872	Hs.58877			Hum Mol Genet    2007	Complement Factor H and Hemicentin-1 in Age-Related Macular Degeneration and Renal Phenotypes				CDC	2007												
147759	N	affective psychoses	PSYCH	PSY	Bipolar Disorder|Depressive Disorder	6	6p21.3-21.2	FKBP5	35649344	35804375		Gawlik, M.  et al. 2006	17081296				FK506 binding protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004117.2	Caucasian		CDC GDP info	2289	Hs.407190			BMC Psychiatry    2006    6(1)    52	Is FKBP5 a genetic marker of affective psychosis? A case control study and analysis of disease related traits		602623		CDC	2006	Our data do not support a significant genetic contribution of FKBP5 polymorphisms and haplotypes to affective psychosis, and the findings are inconclusive regarding their contribution to disease-related traits.											
147760		azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male|Azoospermia|Oligospermia|Genetic Predisposition to Disease	7	7q11.23	FKBP6	72078127	72410570		Zhang, W.  et al. 2007	17307919				FK506 binding protein 6, 36kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_003602			CDC GDP info	8468	Hs.567253			Reproduction    2007    133(2)    511-516	Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men		604839		CDC	2007												
147762		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Eczema|Genetic Predisposition to Disease	1	1q21	FLG	150541274	150564303		Barker, J. N.  et al. 2006	16990802				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1			CDC GDP info	2312	Hs.23783			J Invest Dermatol    2006	Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood		135940		CDC	2006												
147763	P	dermatitis and eczema ichthyosis vulgaris	IMMUNE	IMM	Ichthyosis Vulgaris|Dermatitis, Atopic	1	1q21	FLG	150541274	150564303		Nomura, T.  et al. 2007	17291859				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1	Japanese;European		CDC GDP info	2312	Hs.23783			J Allergy Clin Immunol    2007    119(2)    434-40	Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis		135940		CDC	2007	Our data indicate that FLG mutations in Japan are unique from those found in European-origin populations. CLINICAL IMPLICATIONS: Filaggrin null variants are also significant predisposing factors for AD in Japan and, on the basis of the recent European studies, may predict a more severe and persistent form of atopy.											
147764	N	psoriasis	IMMUNE	IMM	Dermatitis, Atopic|Psoriasis|Genetic Predisposition to Disease	1	1q21	FLG	150541274	150564303		Zhao, Y.  et al. 2007	17410197				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1	European;Irish		CDC GDP info	2312	Hs.23783			J Invest Dermatol    2007	Filaggrin Null Alleles Are Not Associated with Psoriasis		135940		CDC	2007												
147765	Y	asthma eczema	IMMUNE	IMM	Asthma|Dermatitis, Atopic	1	1q21	FLG	150541274	150564303		Palmer, C. N.  et al. 2007	17531295				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1			CDC GDP info	2312	Hs.23783			J Allergy Clin Immunol    2007	Filaggrin null mutations are associated with increased asthma severity in children and young adults		135940		CDC	2007	FLG mutations are associated not only with eczema-associated asthma susceptibility but also with asthma severity independent of eczema status. CLINICAL IMPLICATIONS: FLG status influences controller and reliever medication requirements in children and young adults with asthma.											
147766		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Alopecia Areata|Disease Progression	1	1q21	FLG	150541274	150564303		Betz, R. C.  et al. 2007	17581619				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1			CDC GDP info	2312	Hs.23783			J Invest Dermatol    2007	Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata		135940		CDC	2007	our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe.Journal of Investigative Dermatology advance online publicatiion, 21 June 2007; doi:10.1038/sj.jid.5700915.											
147768		leukemia	CANCER	CAN	Leukemia, Promyelocytic, Acute	13	13q12	FLT3	27475410	27572729		Yoo, S. J.  et al. 2006	17064989				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1	Korean		CDC GDP info	2322	Hs.507590			Leuk Lymphoma    2006    47(9)    1788-93	Inferior prognostic outcome in acute promyelocytic leukemia with alterations of FLT3 gene		136351		CDC	2006												
147769		leukemia, myeloid myelodysplastic syndrome	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Disease Progression	13	13q12	FLT3	27475410	27572729		Bacher, U.  et al. 2007	17550846				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDP info	2322	Hs.507590			Haematologica    2007    92(6)    744-52	A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia		136351		CDC	2007	The increase of molecular mutations from low- to high-risk MDS, to s-AML, and to relapsed AML emphasizes the value of these mutations as markers of progressing disease. Finally, we found a low rate of 5q- in the molecularly mutated cases in MDS which might explain the stability of this subtype.											
147771	Y	osteoporosis	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Spontaneous|Genetic Predisposition to Disease	13	13q12	FLT3	27475410	27572729		Koh, J. M.  et al. 2007	17620055				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDP info	2322	Hs.507590			J Bone Miner Res    2007	Association of FLT3 Polymorphisms With Low BMD and Risk of Osteoporotic Fracture in Postmenopausal Women		136351		CDC	2007												
147772		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	1	1q23-q25	FMO1	169484286	169521737		Cereda, C.  et al. 2006	17127561				Flavin containing monooxygenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097039		Italy	CDC GDP info	2326	Hs.1424			Amyotroph Lateral Scler    2006    7(4)    233-240	Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis		136130		CDC	2006												
147774		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q23-q25	FMO3	169326659	169353583		Bae, S. Y.  et al. 2006	16800822				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4	Korean		CDC GDP info	2328	Hs.445350			Cancer Sci    2006	Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans		136132		CDC	2006			smoking (tobacco)									
147775	P		NORMALVARIATION	NV		1	1q23-q25	FMO3	169326659	169353583		Hao, D. C.  et al. 2006	17096187				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDP info	2328	Hs.445350			Biochem Genet    2006	Haplotype Frequency Distribution and Linkage Disequilibrium Analysis of Single Nucleotide Polymorphisms at the Human FMO3 Gene Locus		136132		CDC	2006												
147776		trimethyaminuria	METABOLIC	MET		1	1q23-q25	FMO3	169326659	169353583		Yamazaki, H.  et al. 2007	17584019				Flavin containing monooxygenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006894.4			CDC GDP info	2328	Hs.445350			Curr Drug Metab    2007    8(5)    487-91	Genetic Polymorphism of the Flavin-Containing Monooxygenase 3 (FMO3) Associated with Trimethylaminuria (Fish Odor Syndrome)		136132		CDC	2007												
147777	Y	fragile X-associated tremor/ataxia syndrome	DEVELOPMENTAL	DEV	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Hessl, D.  et al. 2005	16184602				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDP info	2332	Hs.103183			Am J Med Genet B Neuropsychiatr Genet    2005    139(1)    115-21	Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation		309550		CDC	2005												
147778		cognitive function	PSYCH	PSY	Fragile X Syndrome	X	Xq27.3	FMR1	146801200	146840303		Loat, C. S.  et al. 2006	16907702				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDP info	2332	Hs.103183			Ann Hum Genet    2006    70(5)    555-565	Investigating the Relationship Between FMR1 Allele Length and Cognitive Ability in Children		309550		CDC	2006												
147779		cognitive function hallucinations Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Hallucinations|Cognition Disorders	X	Xq27.3	FMR1	146801200	146840303		Kurz, M. W.  et al. 2007	17548778				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDP info	2332	Hs.103183			J Geriatr Psychiatry Neurol    2007    20(2)    89-92	FMR1 alleles in Parkinson's disease		309550		CDC	2007												
147780		longevity osteoporosis ovarian insufficiency	AGING	AGE	Osteoporosis, Postmenopausal|Ovarian Failure, Premature	X	Xq27.3	FMR1	146801200	146840303		Allen, E. G.  et al. 2007	17588953				Fragile X mental retardation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002024.3			CDC GDP info	2332	Hs.103183			Hum Reprod    2007	Examination of reproductive aging milestones among women who carry the FMR1 premutation		309550		CDC	2007	S Possible molecular mechanisms to explain the non-linear repeat size risk for ovarian insufficiency are discussed.		smoking (tobacco)									
147781	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	2	2q34	FN1	215933423	216009036			16375583				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			CDC GDP info	2335	Hs.203717			Clin Chem Lab Med    2006    44(1)    37-42	Association study between fibronectin and coronary heart disease		135600		CDC	2006	in our population, the four fibronectin gene polymorphisms detected are not associated with clinical coronary heart disease.											
147782		cryoglobulinemic fibronectin lymphoma	CANCER	CAN	Hepatitis C|Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Cryoglobulinemia	2	2q34	FN1	215933423	216009036		Fabris, M.  et al. 2007	17526550				Fibronectin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002026.2			CDC GDP info	2335	Hs.203717			Ann Rheum Dis    2007	Fibronectin gene polymorphisms are associated with the development of B-cell lymphoma in type II mixed cryoglobulinemia		135600		CDC	2007	Genotyping for MspI and HaeIIIb FN gene polymorphisms may be clinically relevant to define the risk of lymphoma development in MCsn.											
147784		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	11	11p11.2	FOLH1	49124762	49186798		Gotze, T.  et al. 2007	17208363				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDP info	2346	Hs.380325			Cancer Lett    2007	Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer		600934		CDC	2007												
147785	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	11	11q13.3-q14.1	FOLR1	71578249	71585014		Boyles, A. L.  et al. 2006	17035141				Folate receptor 1 (adult)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016725	Caucasian		CDC GDP info	2348	Hs.73769			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		136430		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
147786	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	11	11q13.3-q13.5	FOLR2	71605490	71610638		Boyles, A. L.  et al. 2006	17035141				Folate receptor 2 (fetal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000803.2	Caucasian		CDC GDP info	2350	Hs.433159			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		136425		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
147788	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	16	16q22-16q24	FOXC2	85158442	85159948		Shaat, N.  et al. 2007	17342473				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1	Scandinavian		CDC GDP info	2303	Hs.436448			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		602402		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
147789		hypothyroidism	METABOLIC	MET	Congenital Hypothyroidism|Abnormalities, Multiple	9	9q22	FOXE1	99655357	99658818		Santarpia, L.  et al. 2007	17318017				Forkhead box E1 (thyroid transcription factor 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004473.3			CDC GDP info	2304	Hs.159234			J Endocrinol Invest    2007    30(1)    13-9	TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism		602617		CDC	2007												
147790		rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	17	17q22-q25	FOXJ1	71644009	71648966		Li, C. S.  et al. 2006	16518568				Forkhead box J1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC046460			CDC GDP info	2302	Hs.651204			J Hum Genet    2006	Identification of single nucleotide polymorphisms in FOXJ1 and their association with allergic rhinitis		602291		CDC	2006												
147791		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q14.1	FOXO1	40027800	40138734		Karim, M. A.  et al. 2006	16497530				Forkhead box O1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015	Caucasian		CDC GDP info	2308	Hs.370666			Mol Genet Metab    2006	Analysis of FOXO1A as a candidate gene for type 2 diabetes				CDC	2006												
147792		body mass	METABOLIC	MET	Obesity	13	13q14.1	FOXO1	40027800	40138734		Kim, J. R.  et al. 2006	16571842				Forkhead box O1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015	Korean		CDC GDP info	2308	Hs.370666			Obes Res    2006    14(2)    188-193	Polymorphisms in FOXO Gene Family and Association Analysis with BMI				CDC	2006												
147793		diabetes, type 2	METABOLIC	MET		13	13q14.1	FOXO1	40027800	40138734		Bottcher, Y.  et al. 2007	17555999				Forkhead box O1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002015	Caucasian;German		CDC GDP info	2308	Hs.370666			Diabetes Metab    2007	A SNP haplotype of the forkhead transcription factor FOXO1A gene may have a protective effect against type 2 diabetes in German Caucasians				CDC	2007	In											
147794		body mass	METABOLIC	MET	Obesity	6	6q21	FOXO3	108987718	109112664		Kim, J. R.  et al. 2006	16571842				Forkhead box O3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001455	Korean		CDC GDP info	2309	Hs.220950			Obes Res    2006    14(2)    188-193	Polymorphisms in FOXO Gene Family and Association Analysis with BMI				CDC	2006												
147795		body mass	METABOLIC	MET	Obesity	X	Xq13.1	FOXO4	70232750	70240109		Kim, J. R.  et al. 2006	16571842				Forkhead box O4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005938	Korean		CDC GDP info	4303	Hs.584654			Obes Res    2006    14(2)    188-193	Polymorphisms in FOXO Gene Family and Association Analysis with BMI				CDC	2006												
147797		Addison's disease Graves' disease	IMMUNE	IMM	Graves Disease|Addison Disease|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Owen, C. J.  et al. 2006	16901927				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2	Caucasian		CDC GDP info	50943	Hs.247700			J Mol Endocrinol    2006    37(1)    97-104	Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population		300292		CDC	2006												
147798		celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Bjornvold, M.  et al. 2006	16996248				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2	Caucasian		CDC GDP info	50943	Hs.247700			J Autoimmun    2006	FOXP3 polymorphisms in type 1 diabetes and coeliac disease		300292		CDC	2006												
147799		thyroid autoimmunity	IMMUNE	IMM	Thyroiditis, Autoimmune|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Ban, Y.  et al. 2007	17418529				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2	Japanese;Caucasian		CDC GDP info	50943	Hs.247700			J Autoimmun    2007	The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity		300292		CDC	2007												
147800	N	juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	X	Xp11.23	FOXP3	48994353	49008232		Eastell, T.  et al. 2007	17526924				Forkhead box P3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014009.2			CDC GDP info	50943	Hs.247700			Rheumatology (Oxford)    2007	SNPs in the FOXP3 gene region show no association with Juvenile Idiopathic Arthritis in a UK Caucasian population		300292		CDC	2007												
147801		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	9	9q34.1	FPGS	129596696	129616377		Lim, U.  et al. 2006	17119116				Folylpolyglutamate synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004957			CDC GDP info	2356	Hs.335084			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		136510		CDC	2006			Vitamin B6									
147802		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	9	9q34.1	FPGS	129596696	129616377		van der Straaten, R.  et al. 2007	17286537				Folylpolyglutamate synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004957			CDC GDP info	2356	Hs.335084			Pharmacogenomics    2007    8(2)    141-150	Exploratory analysis of four polymorphisms in human GGH and FPGS genes and their effect in methotrexate-treated rheumatoid arthritis patients		136510		CDC	2007			methotrexate									
147803	Y	inflammation	IMMUNE	IMM	Inflammation	19	19q13.4	FPR1	56940837	56946962		Bhattacharya, M.  et al. 2006	16953235				Formyl peptide receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002029.3	Chinese;Canadian;CaucIndian		CDC GDP info	2357	Hs.753			Pharmacogenomics J    2006	Analysis of a missense variant of the human N-formyl peptide receptor that is associated with agonist-independent beta-arrestin association and indices of inflammation		136537		CDC	2006												
147804		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	19	19q13.4	FPR1	56940837	56946962		Nibali, L.  et al. 2007	17452560				Formyl peptide receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002029.3			CDC GDP info	2357	Hs.753			J Dent Res    2007    86(5)    416-20	Gene polymorphisms and the prevalence of key periodontal pathogens		136537		CDC	2007			microbiota									
147805		behavior traits cognitive function	PSYCH	PSY			Xq27.3	FRAXA				Ennis, S.  et al. 2006	16626328				fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)				CDC GDP info	2477				Ann Hum Genet    2006    70(Pt 2)    170-80	An Investigation of FRAXA Intermediate Allele Phenotype in A Longitudinal Sample		309550		CDC	2006												
147806		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome		Xq27.3	FRAXA				Lesca, G.  et al. 2007	17383248				fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)				CDC GDP info	2477				Eur J Med Genet    2007	Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation		309550		CDC	2007												
147807		intellectual performance	PSYCH	PSY			Xq28	FRAXE	147287685	147787753		Niu, Y. B.  et al. 2006	17035177				fragile site, folic acid type, rare, fra(X)(q28) E				CDC GDP info	2481				Yi Chuan    2006    28(10)    1219-1223	Polymorphism of CGG Repeats in the FRAXE Fragile Site in the Qinba Mountain area Children and Its Association with Intelligence.		309548		CDC	2006	indicated a difference in the range of CGG repeats among populations from different regions, but no difference in the distribution of allele frequency in such a population.											
147809	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	2	2qter	FRZB	183406981	183439743		Valdes, A. M.  et al. 2006	17195216				Frizzled-related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001463.2	Japanese;Caucasian	Japan|Great Britain	CDC GDP info	2487	Hs.128453			Arthritis Rheum    2006    56(1)    137-146	Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee		605083		CDC	2006	Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.											
147810	N	osteoarthritis	METABOLIC	MET	Osteoarthritis|Osteoarthritis, Hip|Osteoarthritis, Knee|Genetic Predisposition to Disease	2	2qter	FRZB	183406981	183439743		Rodriguez-Lopez, J.  et al. 2007	17237116				Frizzled-related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001463.2			CDC GDP info	2487	Hs.128453			Ann Rheum Dis    2007	Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis		605083		CDC	2007	No direct replication of previous OA association findings was obtained but the results suggest that the R324G SNP of the FRZB gene may have an effect in OA development in multiple joints, with a specific severe involvement of the hip in women.											
147811	Y	colorectal cancer	CANCER	CAN		2	2qter	FRZB	183406981	183439743		Shanmugam, K. S.  et al. 2007	17420170	FRZB  Arg324Gly			Frizzled-related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001463.2	German		CDC GDP info	2487	Hs.128453			Carcinogenesis    2007	The functional genetic variant Arg324Gly of frizzled-related protein (FRZB) is associated with colorectal cancer risk		605083		CDC	2007												
147812		heterotropic ossification osteolysis	METABOLIC	MET	Osteolysis|Osteoarthritis, Hip|Genetic Predisposition to Disease|Ossification, Heterotopic	2	2qter	FRZB	183406981	183439743		Gordon, A.  et al. 2007	17600823				Frizzled-related protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001463.2			CDC GDP info	2487	Hs.128453			J Orthop Res    2007	Variation in the secreted frizzled-related protein-3 gene and risk of Osteolysis and heterotopic ossification after total hip arthroplasty		605083		CDC	2007												
147813		azoospermia	REPRODUCTION	REP	Oligospermia	2	2p21-p16	FSHR	49043155	49235134		Ishikawa, T.  et al. 2006	16338864				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2		Japan	CDC GDP info	2492	Hs.1428			Arch Androl    2006    52(1)    15-9	Screening of FSH receptor gene mutation (C566T) in azoospermic men in Japan		136435		CDC	2006												
147814	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2p21-p16	FSHR	49043155	49235134		Yang, C. Q.  et al. 2006	16574671				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			Carcinogenesis    2006	Single nucleotide polymorphisms of follicle stimulating hormone receptor are associated with ovarian cancer susceptibility		136435		CDC	2006												
147816	N	premature ovarian failure	REPRODUCTION	REP		2	2p21-p16	FSHR	49043155	49235134		Chen, X. N.  et al. 2006	16762186				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			Zhonghua Fu Chan Ke Za Zhi    2006    41(5)    315-8	Follicular stimulating hormone receptor gene C566T mutation in premature ovarian failure.		136435		CDC	2006	No FSHR gene C566T mutation is present in POF patients and controls.											
147817		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	2	2p21-p16	FSHR	49043155	49235134		Nakayama, T.  et al. 2006	16864747			5' untranslated region	Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			Hypertension    2006    48(3)    512-8	Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension		136435		CDC	2006												
147818		invitro fertilization	REPRODUCTION	REP	Ovarian Hyperstimulation Syndrome|Infertility, Female	2	2p21-p16	FSHR	49043155	49235134		Jun, J. K.  et al. 2006	16871362				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2	Korean		CDC GDP info	2492	Hs.1428			J Hum Genet    2006	Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET		136435		CDC	2006												
147819	Y	invitro fertilization	REPRODUCTION	REP	Infertility	2	2p21-p16	FSHR	49043155	49235134		Klinkert, E. R.  et al. 2006	17169182				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			Reprod Biomed Online    2006    13(5)    687-95	FSH receptor genotype is associated with pregnancy but not with ovarian response in IVF		136435		CDC	2006												
147820		infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia	2	2p21-p16	FSHR	49043155	49235134		Pengo, M.  et al. 2006	17169197				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2	Italian		CDC GDP info	2492	Hs.1428			Reprod Biomed Online    2006    13(6)    795-800	FSH receptor gene polymorphisms in fertile and infertile Italian men		136435		CDC	2006												
147821	P	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	2	2p21-p16	FSHR	49043155	49235134		Orio, F. = Jr et al. 2006	17259794				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2	Italian		CDC GDP info	2492	Hs.1428			J Endocrinol Invest    2006    29(11)    975-82	Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome		136435		CDC	2006	the present study demonstrates that mutations of the FSHr gene are rare in Italian women.											
147822		ovarian response to FSH stimulation	REPRODUCTION	REP		2	2p21-p16	FSHR	49043155	49235134		Wunsch, A.  et al. 2007	17544358				Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			Ann Endocrinol (Paris)    2007	Polymorphism of the FSH receptor and ovarian response to FSH		136435		CDC	2007												
147824		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	19	19q13.3-q13.4	FTL	54160377	54161948		Costa, M. D.  et al. 2006	16858508				Ferritin, light polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF244604	Portuguese		CDC GDP info	2512	Hs.433670			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		134790		CDC	2006												
147825	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease|Birth Weight|Overweight	16	16q12.2	FTO	52295375	52705882		Frayling, T. M. et al.  et al. 2007	17434869				Fat mass and obesity associated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001080432			CDC GDP info	79068	Hs.528833			Science    2007	A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity		610966		CDC	2007			body mass									
147826		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	16	16q12.2	FTO	52295375	52705882		Scott, L. J. et al.  et al. 2007	17463248				Fat mass and obesity associated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001080432	Finnish		CDC GDP info	79068	Hs.528833			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		610966		CDC	2007												
147827	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	16	16q12.2	FTO	52295375	52705882		Dina, C.  et al. 2007	17496892				Fat mass and obesity associated	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001080432	European		CDC GDP info	79068	Hs.528833			Nat Genet    2007	Variation in FTO contributes to childhood obesity and severe adult obesity		610966		CDC	2007	FTO contributes to human obesity and hence may be a target for subsequent functional analyses.											
147829		Norovirus infection	INFECTION	INF	Caliciviridae Infections|Gastroenteritis|Disease Susceptibility	19	19q13.3	FUT2	53891049	53901019		Thorven, M.  et al. 2005	16306606				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDP info	2524	Hs.579928			J Virol    2005    79(24)    15351-5	A homozygous nonsense mutation (428G-->A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections		182100		CDC	2005												
147830	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression	19	19q13.3	FUT2	53891049	53901019		Kindberg, E.  et al. 2006	16514298				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDP info	2524	Hs.579928			AIDS    2006    20(5)    685-689	A nonsense mutation (428G-->A) in the fucosyltransferase FUT2 gene affects the progression of HIV-1 infection		182100		CDC	2006	Strong association (P < 0.001) was observed between the nonsense mutation 428G-->A in the FUT2 gene and a slow disease progression of HIV-1 infection.											
147831		Norovirus infection	INFECTION	INF	Caliciviridae Infections	19	19q13.3	FUT2	53891049	53901019		Larsson, M. M.  et al. 2006	17054072				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDP info	2524	Hs.579928			J Infect Dis    2006    194(10)    1422-7	Antibody Prevalence and Titer to Norovirus (Genogroup II) Correlate with Secretor (FUT2) but Not with ABO Phenotype or Lewis (FUT3) Genotype		182100		CDC	2006	Nonsecretors and Lea+b- individuals are significantly less prone to be infected with GGII noroviruses. This new information extends previous knowledge and supports the hypothesis that nonsecretors are relatively but not absolutely resistant to norovirus infections.											
147832		Norovirus infection	INFECTION	INF	Caliciviridae Infections	19	19q13.3	FUT2	53891049	53901019		Kindberg, E.  et al. 2007	17537929				Fucosyltransferase 2 (secretor status included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000511.3			CDC GDP info	2524	Hs.579928			J Clin Microbiol    2007	Host genetic resistance to symptomatic norovirus (GGII.4) infections in Denmark		182100		CDC	2007												
147833			NORMALVARIATION	NV		19	19p13.3	FUT3	5793901	5802482		Hamajima, N.  et al. 2002	12164325				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDP info	2525	Hs.169238			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		111100		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
147835		Norovirus infection	INFECTION	INF	Caliciviridae Infections	19	19p13.3	FUT3	5793901	5802482		Larsson, M. M.  et al. 2006	17054072				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDP info	2525	Hs.169238			J Infect Dis    2006    194(10)    1422-7	Antibody Prevalence and Titer to Norovirus (Genogroup II) Correlate with Secretor (FUT2) but Not with ABO Phenotype or Lewis (FUT3) Genotype		111100		CDC	2006	Nonsecretors and Lea+b- individuals are significantly less prone to be infected with GGII noroviruses. This new information extends previous knowledge and supports the hypothesis that nonsecretors are relatively but not absolutely resistant to norovirus infections.											
147836	Y	atherothrombotic disease	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis|Thrombosis	19	19p13.3	FUT3	5793901	5802482		Djousse, L.  et al. 2007	17383304				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDP info	2525	Hs.169238			Am Heart J    2007    153(4)    636-9	Fucosyltransferase 3 polymorphism and atherothrombotic disease in the Framingham Offspring Study		111100		CDC	2007	Our data suggest that functional mutations of the FUT3 gene may be associated with an increased atherothrombotic disease prevalence, especially among abstainers.		alcohol smoking (tobacco)									
147838		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q23.3	FXYD6	117212902	117252577		Choudhury, K.  et al. 2007	17357072				FXYD domain containing ion transport regulator 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092198	Scottish		CDC GDP info	53826	Hs.635508			Am J Hum Genet    2007    80(4)    664-72	A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia		606683		CDC	2007												
147839	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6q21	FYN	112089177	112301320		Yamada, Y.  et al. 2007	17334644				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3		Japan	CDC GDP info	2534	Hs.390567			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		137025		CDC	2007												
147840		schizophrenia	PSYCH	PSY	Schizophrenia	6	6q21	FYN	112089177	112301320		Rybakowski, J. K.  et al. 2007	17417065				FYN oncogene related to SRC, FGR, YES	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002037.3			CDC GDP info	2534	Hs.390567			Psychiatr Genet    2007    17(3)    201-4	Polymorphisms of the Fyn kinase gene and a performance on the Wisconsin Card Sorting Test in schizophrenia		137025		CDC	2007												
147841	N	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21	FZD3	28407691	28477880		Jeong, S. H.  et al. 2006	16707163				Frizzled homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017412.2	Japanese;Chinese;Korean	Korea	CDC GDP info	7976	Hs.40735			Psychiatry Res    2006	Investigation of genetic association between human Frizzled homolog 3 gene (FZD3) and schizophrenia		606143		CDC	2006	In the case of FZD3, it seems that repeated failures to replicate the original results by several independent research groups combine to provide evidence against an association between FZD3 and schizophrenia. Other candidate genes involved in early neurodevelopmental processes may deserve further investigation.											
147842	P		NORMALVARIATION	NV		X	Xq28	G6PD	153412799	153428981			16532971				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDP info	2539	Hs.461047			Zhonghua Xue Ye Xue Za Zhi    2005    26(10)    612-5	Glucose-6-phosphate dehydrogenase gene mutations in She nationality, Fujian province		305900		CDC	2005	(1)G6PD nt1376G-->T and G6PD nt1388G-->A are two main variants in Muyun SN. Chinese ethnic groups share the similar G6PD gene variants, suggesting originated from the same ancestor. (2) 5 variants are found in SN: G6PD nt1376G-->T, nt1388G-->A, nt95A-->G, nt1024C-->T and nt392G-->T. (3) One with both nt1376G-->T and nt95A-->G mutations, another with both nt1376G-->T and nt1388G-->A mutations were found in SN. (4) nt95A-->G is another common G6PD gene variant in Muyun SN; nt1024C-->T is a common G6PD gene variant in Qingshui SN. (5)The gene frequency of G6PD in Qingshui SN is 0.0607, and is 0. 1706 in Muyun SN, these would facilitate the policy decision of C6PD deficiency prevention and treatment in these areas.											
147843		anemia	HEMATOLOGICAL	HEM	Parasitemia|Malaria|Anemia	X	Xq28	G6PD	153412799	153428981		Atkinson, S. H.  et al. 2006	16637741				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Gambia	Gambia	CDC GDP info	2539	Hs.461047			PLoS Med    2006    3(5)    e172	Seasonal Childhood Anaemia in West Africa Is Associated with the Haptoglobin 2-2 Genotype		305900		CDC	2006	The finding that haptoglobin 2-2 genotype is a risk factor for anaemia in children in a malaria-endemic area may reflect the reduced ability of the Hp2-2 polymer to scavenge free haemoglobin-iron following malaria-induced haemolysis. The magnitude of the effect of haptoglobin genotype (4 g/l Hb difference, p = 0.0009) was comparable to that of G6PD deficiency or HbAS (3 g/l difference, p = 0.03; and 2 g/l difference, p = 0.68, respectively).											
147844		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	X	Xq28	G6PD	153412799	153428981		Migot-Nabias, F.  et al. 2006	16859949				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Senegalese	Senegal	CDC GDP info	2539	Hs.461047			Microbes Infect    2006	Red blood cell polymorphisms in relation to Plasmodium falciparum asymptomatic parasite densities and morbidity in Senegal		305900		CDC	2006												
147846	Y	G6PD deficiency	METABOLIC	MET		X	Xq28	G6PD	153412799	153428981		Warsy, A. S.  et al. 2001	17264545				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Saudi		CDC GDP info	2539	Hs.461047			Ann Saudi Med    2001    21(3-4)    174-7	G6PD deficiency, distribution and variants in Saudi Arabia		305900		CDC	2001	This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PDA-Mediterranean is the major variant producing the severe deficiency state in this population.											
147848	Y	gastric atrophy H. pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms|Atrophy|Metaplasia	4		GAB1	144477580	144610729		Goto, Y.  et al. 2006	17211494				GRB2-associated binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002039.2			CDC GDP info	2549	Hs.80720			Int J Med Sci    2006    4(1)    1-6	Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy		604439		CDC	2006	This study represents that the Gab1 polymorphism was associated with the low risk of H.											
147849		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	11	11q14.1	GAB2	77603989	77806414		Reiman, E. M. et al.  et al. 2007	17553421				GRB2-associated binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012296			CDC GDP info	9846	Hs.429434			Neuron    2007    54(5)    713-720	GAB2 Alleles Modify Alzheimer's Risk in APOE varepsilon4 Carriers		606203		CDC	2007												
147850	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	17	17p13.1	GABARAP	7084461	7086477		Lou, X. Y.  et al. 2007	17164261				GABA(A) receptor-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM803698	European		CDC GDP info	11337	Hs.647421			Hum Mol Genet    2007    16(2)    142-53	Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans				CDC	2007												
147852	N	epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe	6	6p21.31	GABBR1	29631386	29708839		Stogmann, E.  et al. 2006	16499773				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1	European		CDC GDP info	2550	Hs.167017			Epilepsia    2006    47(2)    437-9	Lack of Association between a GABA Receptor 1 Gene Polymorphism and Temporal Lobe Epilepsy		603540		CDC	2006	Although our study was sufficiently powered, we could not replicate the original association.											
147853	Y	sleep apnea	CARDIOVASCULAR	CARD	Sleep Apnea, Obstructive	6	6p21.31	GABBR1	29631386	29708839		Bayazit, Y. A.  et al. 2007	17264536	GABBR1   Ala20Val			Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDP info	2550	Hs.167017			ORL J Otorhinolaryngol Relat Spec    2007    69(3)    190-197	Association of GABA(B)R1 Receptor Gene Polymorphism with Obstructive Sleep Apnea Syndrome		603540		CDC	2007	The Ala20Val polymorphism of the GABA(B)R1 gene may be associated with OSAS, whereas Gly489Ser polymorphism does not seem to be involved in OSAS.											
147854	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.31	GABBR1	29631386	29708839		Zhao, X.  et al. 2007	17412563				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDP info	2550	Hs.167017			Schizophr Res    2007	Systematic study of association of four GABAergic genes		603540		CDC	2007				GABBR1		GABRB2		GAD1, GAD2				
147855		endurance performance	NORMALVARIATION	NV		15		GABPB2	48356680	48434687		He, Z.  et al. 2007	17357964				GA binding protein transcription factor, beta subunit 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002041.3			CDC GDP info	2553	Hs.511316			Int J Sports Med    2007	NRF2 Genotype Improves Endurance Capacity in Response to Training				CDC	2007	polymorphisms in NRF2 gene may explain some of the between-person variance in endurance capacity.											
147856		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5q34-q35	GABRA1	161206982	161258992		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDP info	2554	Hs.175934			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		137160		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147857		essential tremor	NEUROLOGICAL	NEUR	Essential Tremor|Genetic Predisposition to Disease	5	5q34-q35	GABRA1	161206982	161258992			16530959				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Caucasian		CDC GDP info	2554	Hs.175934			Neurosci Lett    2006	Genetic analysis of the GABRA1 gene in patients with essential tremor		137160		CDC	2006												
147859		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	5	5q34-q35	GABRA1	161206982	161258992		Collins, A. L.  et al. 2006	16770606				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Caucasian		CDC GDP info	2554	Hs.175934			Neurogenetics    2006	Investigation of autism and GABA receptor subunit genes in multiple ethnic groups		137160		CDC	2006												
147860	Y	alcohol withdrawal alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q34-q35	GABRA1	161206982	161258992		Park, C. S.  et al. 2006	16778401				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Korean		CDC GDP info	2554	Hs.175934			J Korean Med Sci    2006    21(3)    533-8	Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population		137160		CDC	2006												
147862		epilepsy, juvenile myoclonic	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile	5	5q34-q35	GABRA1	161206982	161258992		Ma, S.  et al. 2006	16839746				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3	Caucasian		CDC GDP info	2554	Hs.175934			Epilepsy Res    2006	Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy		137160		CDC	2006												
147863		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	5	5q34-q35	GABRA1	161206982	161258992		Loh, E. W.  et al. 2007	17440936				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDP info	2554	Hs.175934			Am J Med Genet B Neuropsychiatr Genet    2007	Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population		137160		CDC	2007												
147864		alcohol dependence conduct disorder drug dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Mental Disorders|Substance-Related Disorders	4	4p12	GABRA2	45946462	46087178		Dick, D. M.  et al. 2006	16557364				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDP info	2555	Hs.116250			Behav Genet    2006	The Role of GABRA2 in Risk for Conduct Disorder and Alcohol and Drug Dependence across Developmental Stages		137140		CDC	2006												
147866		alcoholism illicit drug dependence marijuana dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Marijuana Abuse	4	4p12	GABRA2	45946462	46087178		Agrawal, A.  et al. 2006	16622805				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDP info	2555	Hs.116250			Behav Genet    2006	Association of GABRA2 with Drug Dependence in the Collaborative Study of the Genetics of Alcoholism Sample		137140		CDC	2006	from twin studies suggest that overlapping genetic factors influence alcohol dependence and illicit drug dependence.											
147867		substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Genetic Predisposition to Disease	4	4p12	GABRA2	45946462	46087178		Drgon, T.  et al. 2006	16894595				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDP info	2555	Hs.116250			Am J Med Genet B Neuropsychiatr Genet    2006	Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster		137140		CDC	2006												
147868		alcoholism	CHEMDEPENDENCY	CHEM		4	4p12	GABRA2	45946462	46087178		Soyka, M.  et al. 2007	17207817				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1	German		CDC GDP info	2555	Hs.116250			J Psychiatr Res    2007	GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence		137140		CDC	2007												
147870		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		X	Xq28	GABRA3	151087185	151370486		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000808.2			CDC GDP info	2556	Hs.123024			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		305660		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147871		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	4	4p12	GABRA4	46615673	46690337		Collins, A. L.  et al. 2006	16770606				Gamma-aminobutyric acid (GABA) A receptor, alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000809.2	Caucasian		CDC GDP info	2557	Hs.248112			Neurogenetics    2006	Investigation of autism and GABA receptor subunit genes in multiple ethnic groups		137141		CDC	2006												
147872		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	4	4p12	GABRA4	46615673	46690337		Saccone, S. F.  et al. 2006	17135278				Gamma-aminobutyric acid (GABA) A receptor, alpha 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000809.2			CDC GDP info	2557	Hs.248112			Hum Mol Genet    2006	Cholinergic Nicotinic Receptor Genes Implicated in a Nicotine Dependence Association Study Targeting 348 Candidate Genes with 3,713 SNPs		137141		CDC	2006												
147874		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q11.2-q12	GABRA5	24663150	24777091		Ashley-Koch, A. E.  et al. 2006	16674551				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2	Caucasian		CDC GDP info	2558	Hs.24969			Ann Hum Genet    2006    70(Pt 3)    281-92	An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease		137142		CDC	2006												
147875	N	migraine	NEUROLOGICAL	NEUR		15	15q11.2-q12	GABRA5	24663150	24777091		Oswell, G.  et al. 2007	17580321				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			CDC GDP info	2558	Hs.24969			Am J Med Genet B Neuropsychiatr Genet    2007	No association of migraine to the GABA-A receptor complex on chromosome 15		137142		CDC	2007												
147877	Y	perceived parenting	PSYCH	PSY		5	5q34	GABRA6	161045547	161061690			16402352				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDP info	2559	Hs.90791			Am J Med Genet B Neuropsychiatr Genet    2006	Negative perceived paternal parenting is associated with dopamine D(2) receptor exon 8 and GABA(A) alpha 6 receptor variants		137143		CDC	2006												
147878	N	alcohol withdrawal alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q34	GABRA6	161045547	161061690		Park, C. S.  et al. 2006	16778401				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1	Korean		CDC GDP info	2559	Hs.90791			J Korean Med Sci    2006    21(3)    533-8	Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population		137143		CDC	2006												
147879	Y	heartburn	OTHER	OTH	Heartburn	5	5q34	GABRA6	161045547	161061690		Lee, Y. C.  et al. 2007	17295876				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDP info	2559	Hs.90791			J Gastroenterol Hepatol    2007    22(2)    227-33	GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese		137143		CDC	2007	Chinese patients with certain psychiatric characteristics and GABRA6 heterozygosity are probably predisposed to functional heartburn, providing insight into this condition\s psychopathology and genetics.											
147880		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	5	5q34	GABRA6	161045547	161061690		Loh, E. W.  et al. 2007	17440936				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDP info	2559	Hs.90791			Am J Med Genet B Neuropsychiatr Genet    2007	Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population		137143		CDC	2007												
147881		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		4	4p12	GABRB1	46728335	47123202		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			CDC GDP info	2560	Hs.27283			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		137190		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147883	Y	schizophrenia	PSYCH	PSY	Disease Susceptibility|Schizophrenia	5	5q34	GABRB2	160648013	160907708		Yu, Z.  et al. 2006	16472798	GABRB2  rs1816071 and rs1816072			Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Chinese;German		CDC GDP info	2561	Hs.591728			Clin Biochem    2006	Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping		600232		CDC	2006	Significant association was found for SNPs rs1816071 and rs1816072 with SCZ susceptibility.											
147885	N	alcohol withdrawal alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	5	5q34	GABRB2	160648013	160907708		Park, C. S.  et al. 2006	16778401				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Korean		CDC GDP info	2561	Hs.591728			J Korean Med Sci    2006    21(3)    533-8	Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population		600232		CDC	2006												
147886	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q34	GABRB2	160648013	160907708		Lo, W. S.  et al. 2006	16950232				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Japanese;Chinese;Caucasian;German	Japan|Germany	CDC GDP info	2561	Hs.591728			Biol Psychiatry    2006	GABRB2 Association with Schizophrenia		600232		CDC	2006	Cross-population validation of GABRB2 association with schizophrenia has been obtained with JP and GE subjects, with the genotype-disease correlations being strongest in systematic schizophrenia, the most severe subtype of the disease.											
147887	N	schizophrenia	PSYCH	PSY	Schizophrenia	5	5q34	GABRB2	160648013	160907708	not significant	Jamra, R. A.  et al. 2007	17167345		no functional effect of the studies polymorphisms.		Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	European;German		CDC GDP info	2561	Hs.591728			Psychiatr Genet    2007    17(1)    43-45	No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia	rs1816071, rs1816072, rs194072, rs252944, rs187269	600232		CDC	2007	The initial positive association reported by Lo et al. (2004) has not been confirmed.											
147888	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q34	GABRB2	160648013	160907708		Zhao, X.  et al. 2007	17412563				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1			CDC GDP info	2561	Hs.591728			Schizophr Res    2007	Systematic study of association of four GABAergic genes		600232		CDC	2007				GABBR1		GABRB2		GAD1, GAD2				
147890		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		15	15q11.2-q12	GABRB3	24339786	24767432		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDP info	2562	Hs.302352			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		137192		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147891		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Ashley-Koch, A. E.  et al. 2006	16674551				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4	Caucasian		CDC GDP info	2562	Hs.302352			Ann Hum Genet    2006    70(Pt 3)    281-92	An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease		137192		CDC	2006												
147892		epilepsy, childhood absence	NEUROLOGICAL	NEUR	Epilepsy, Absence	15	15q11.2-q12	GABRB3	24339786	24767432		Urak, L.  et al. 2006	16835263			promoter	Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDP info	2562	Hs.302352			Hum Mol Genet    2006	A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity		137192		CDC	2006												
147894	Y	autism	PSYCH	PSY	Autistic Disorder	15	15q11.2-q12	GABRB3	24339786	24767432		Kim, S. A.  et al. 2007	17230033				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4	Korean		CDC GDP info	2562	Hs.302352			Neuropsychobiology    2007    54(3)    160-165	Association of GABRB3 Polymorphisms with Autism Spectrum Disorders in Korean Trios		137192		CDC	2007	Our finding suggested that single-nucleotide polymorphisms in GABRB3 may play a significant role in the genetic predisposition to ASD in the Korean population.											
147895	N	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	15	15q11.2-q12	GABRB3	24339786	24767432		Morkuniene, A.  et al. 2007	17272867				Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4			CDC GDP info	2562	Hs.302352			J Appl Genet    2007    48(1)    87-9	Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania		137192		CDC	2007												
147896		alcohol dependence	CHEMDEPENDENCY	CHEM		4	4p12	GABRG1	45732543	45820839		Covault, J.  et al. 2007	17507911				Gamma-aminobutyric acid (GABA) A receptor, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173536.3	European		CDC GDP info	2565	Hs.375051			Neuropsychopharmacology    2007	Markers in the 5'-Region of GABRG1 Associate to Alcohol Dependence and are in Linkage Disequilibrium with Markers in the Adjacent GABRA2 Gene		137166		CDC	2007												
147897		epilepsy	NEUROLOGICAL	NEUR	Epilepsy	5	5q31.1-q33.1	GABRG2	161427294	161515106		Kinirons, P.  et al. 2006	16806831				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDP info	2566	Hs.7195			Epilepsy Res    2006	Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs		137164		CDC	2006	can be drawn from results.											
147899		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Loh, E. W.  et al. 2007	17440936				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDP info	2566	Hs.7195			Am J Med Genet B Neuropsychiatr Genet    2007	Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population		137164		CDC	2007												
147901		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		2	2q31	GAD1	171381445	171425905		Comings, D. E.  et al. 2000	11140838				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2			CDC GDP info	2571	Hs.420036			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		605363		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147902	Y	anxiety disorder; depressive disorder, major; neuroticism	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder, Major|Neurotic Disorders	2	2q31	GAD1	171381445	171425905	0.003	Hettema, J. M.  et al. 2006	16718280	Haplotypic			Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2	Caucasian		CDC GDP info	2571	Hs.420036			Mol Psychiatry    2006	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism		605363		CDC	2006		Twin sample										
147903	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q31	GAD1	171381445	171425905		Zhao, X.  et al. 2007	17412563				Glutamate decarboxylase 1 (brain, 67kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000817.2			CDC GDP info	2571	Hs.420036			Schizophr Res    2007	Systematic study of association of four GABAergic genes		605363		CDC	2007												
147904		obesity	METABOLIC	MET	Obesity|Obesity, Morbid	10	10p11.23	GAD2	26545599	26633493			14691540				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDP info	2572	Hs.231829			PLoS Biol    2003    1(3)    E68	GAD2 on chromosome 10p12 is a candidate gene for human obesity		138275		CDC	2003												
147905	N	anxiety disorder; depressive disorder, major; neuroticism	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder, Major|Neurotic Disorders	10	10p11.23	GAD2	26545599	26633493		Hettema, J. M.  et al. 2006	16718280				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1	Caucasian		CDC GDP info	2572	Hs.231829			Mol Psychiatry    2006	Association between glutamic acid decarboxylase genes and anxiety disorders, major depression, and neuroticism		138275		CDC	2006		Twin sample										
147907	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	10	10p11.23	GAD2	26545599	26633493		Lappalainen, J.  et al. 2006	17034009				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1	European;Russian		CDC GDP info	2572	Hs.231829			Am J Med Genet B Neuropsychiatr Genet    2006	Mutation screen of the GAD2 gene and association study of alcoholism in three populations		138275		CDC	2006	the results of an extensive search for an association of GAD2 with AD suggest that variation in GAD2 is not a major risk factor for AD in EAs.											
147909	Y	body mass glucose tolerance glycemia obesity, localized	METABOLIC	MET	Hyperglycemia	10	10p11.23	GAD2	26545599	26633493		Boesgaard, T. W.  et al. 2007	17459095	GAD2-243A-->G			Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1	Danish		CDC GDP info	2572	Hs.231829			Diabet Med    2007	A -243A-->G polymorphism upstream of the gene encoding GAD65 associates with lower levels of body mass index and glycaemia in a population-based sample of 5857 middle-aged White subjects		138275		CDC	2007	 The present study suggests that the GAD2-243A-->G polymorphism in a population of middle-aged White people associates with a modest reduction in BMI and fasting and OGTT-related plasma glucose levels.											
147910	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11q13.2	GAL	68208558	68215219		Belfer, I.  et al. 2006	17083333				Galanin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015973.3	Finnish		CDC GDP info	51083	Hs.278959			Genes Brain Behav    2006	Alcoholism is associated with GALR3 but not two other galanin receptor genes		137035		CDC	2006												
147911		panic disorder	PSYCH	PSY		11	11q13.2	GAL	68208558	68215219		Unschuld, P. G.  et al. 2007	17573119				Galanin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015973.3			CDC GDP info	51083	Hs.278959			J Affect Disord    2007	Polymorphisms in the galanin gene are associated with symptom-severity in female patients suffering from panic disorder		137035		CDC	2007	The results of this study underline the potential of further genetic research concerning GAL and a possible role of this neuropeptide in the pathogenesis of female PD.											
147912	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	18	18q23	GALR1	73090720	73111081		Belfer, I.  et al. 2006	17083333				Galanin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001480.2	Finnish		CDC GDP info	2587	Hs.272191			Genes Brain Behav    2006	Alcoholism is associated with GALR3 but not two other galanin receptor genes		600377		CDC	2006												
147913	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q25.3	GALR2	71582486	71585168		Belfer, I.  et al. 2006	17083333				Galanin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF040630	Finnish		CDC GDP info	8811	Hs.666366			Genes Brain Behav    2006	Alcoholism is associated with GALR3 but not two other galanin receptor genes		603691		CDC	2006												
147914	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	22	22q13.1	GALR3	36549334	36551448		Belfer, I.  et al. 2006	17083333				Galanin receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF073799	Finnish		CDC GDP info	8484	Hs.158353			Genes Brain Behav    2006	Alcoholism is associated with GALR3 but not two other galanin receptor genes		603692		CDC	2006												
147915	N	amenorrhea premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Genetic Predisposition to Disease|Amenorrhea	9	9p13	GALT	34636634	34640573		Kumar, K. A.  et al. 2005	16274605				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Indian		CDC GDP info	2592	Hs.522090			Reprod Biomed Online    2005    11(4)    444-8	Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure		606999		CDC	2005	there is no relationship between ovarian failure and GALT polymorphisms in Indian women.											
147916	N	endometriosis	REPRODUCTION	REP	Endometriosis	9	9p13	GALT	34636634	34640573			16416427				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3			CDC GDP info	2592	Hs.522090			Environ Mol Mutagen    2006	No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population		606999		CDC	2006												
147918	P		METABOLIC	MET	Galactosemias	9	9p13	GALT	34636634	34640573		Lukac-Bajalo, J.  et al. 2006	17303100				Galactose-1-phosphate uridylyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004512.3	Caucasian		CDC GDP info	2592	Hs.522090			Clin Biochem    2006	Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population		606999		CDC	2006	The allele frequency of the K285N mutation in Slovenian population is higher than in other Caucasian populations.											
147919		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.12	GAPDHS	40716153	40728061		Lin, P. I.  et al. 2006	16832079				Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014364			CDC GDP info	26330	Hs.248017			Neurology    2006    67(1)    64-8	Exploring the association of glyceraldehyde-3-phosphate dehydrogenase gene and Alzheimer disease		609169		CDC	2006	The GAPD gene and its pseudogene may play a role in the development of late-onset Alzheimer disease. However, the effect, if any, is likely to be limited.											
147920		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.12	GAPDHS	40716153	40728061		Bertram, L.  et al. 2007	17192785				Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014364			CDC GDP info	26330	Hs.248017			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		609169		CDC	2007	odds ratios (ranging from 1.											
147921		Down syndrome	DEVELOPMENTAL	DEV	Leukemia, Megakaryoblastic, Acute|Down Syndrome	X	Xp11.23	GATA1	48529905	48537661		Pine, S. R.  et al. 2007	17576817				GATA binding protein 1 (globin transcription factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002049.2	non-Hispanic		CDC GDP info	2623	Hs.765			Blood    2007	Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome		305371		CDC	2007												
147923		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	8	8p23.1-p22	GATA4	11571876	11654918		Zhang, L.  et al. 2006	17253934				GATA binding protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002052	Danish		CDC GDP info	2626	Hs.243987			Genet Test    2006    10(4)    277-80	Screening of 99 Danish patients with congenital heart disease for GATA4 mutations		600576		CDC	2006												
147924		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Diseases	8	8p23.1-p22	GATA4	11571876	11654918		Schluterman, M. K.  et al. 2007	17352393				GATA binding protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002052			CDC GDP info	2626	Hs.243987			Am J Med Genet A    2007	Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease		600576		CDC	2007												
147925	N	adrogen body mass insulin polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	18	18q11.1-q11.2	GATA6	18003413	18036225		Jones, M. R.  et al. 2006	17070195				GATA binding protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X95701	Caucasian	Western Australia	CDC GDP info	2627	Hs.514746			Fertil Steril    2006    86(5)    1438-46	Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome		601656		CDC	2006	These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.											
147927		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Sobreira, E.  et al. 2006	16996765				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2	Ashkenazi;Brazilian;Jewish		CDC GDP info	2629	Hs.282997			Mol Genet Metab    2006	Phenotypic and genotypic heterogeneity in Gaucher disease type 1		606463		CDC	2006												
147928		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Alfonso, P.  et al. 2007	17427031				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDP info	2629	Hs.282997			J Hum Genet    2007	Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain		606463		CDC	2007												
147929		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q21	GBA	153450239	153463837		Ziegler, S. G.  et al. 2007	17462935				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2			CDC GDP info	2629	Hs.282997			Mol Genet Metab    2007	Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease		606463		CDC	2007												
147930		body mass bone density glucose	METABOLIC	MET		4	4q12-q13	GC	72826274	72890101		Taes, Y. E.  et al. 2006	16309986				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDP info	2638	Hs.418497			Bone    2006    38(5)    701-7	Vitamin D binding protein, bone status and body composition in community-dwelling elderly men		139200		CDC	2006	serum 1,25(OH)(2)-vitamin D concentrations are codetermined by DBP-phenotypes and DBP-concentrations. No major effect of DBP-polymorphism was demonstrated on BMD, bone turnover markers or body composition.											
147932		body mass C-reactive protein cortisol response insulin	METABOLIC	MET	Insulin Resistance	4	4q12-q13	GC	72826274	72890101		van den Akker, E. L.  et al. 2006	16684836				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDP info	2638	Hs.418497			J Clin Endocrinol Metab    2006    91(7)    2800-3	Glucocorticoid receptor polymorphism affects transrepression but not transactivation		139200		CDC	2006	Persons carrying the GR-9beta haplotype seem to have a decreased GC transrepression with normal transactivation.											
147933	N	breast cancer	CANCER	CAN	Breast Neoplasms	4	4q12-q13	GC	72826274	72890101		McCullough, M. L.  et al. 2007	17244366				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2			CDC GDP info	2638	Hs.418497			Breast Cancer Res    2007    9(1)    R9	Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer		139200		CDC	2007	We found no overall association between selected vitamin D pathway genes and postmenopausal breast cancer risk.		calcium									
147934		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q22.1-q22.2	GCH1	54378473	54439292		Hertz, J. M.  et al. 2006	16643317				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2	Danish		CDC GDP info	2643	Hs.86724			Eur J Neurol    2006    13(4)    385-90	Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease		600225		CDC	2006	homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early-onset of the disease.											
147935	N	pain intensity	NEUROLOGICAL	NEUR	Pain	14	14q22.1-q22.2	GCH1	54378473	54439292		Kim, H.  et al. 2007	17343757				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2	African American;Hispanic European;Asian		CDC GDP info	2643	Hs.86724			Mol Pain    2007    3(1)    6	Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans		600225		CDC	2007	Considering population stratification, previously reported associations between GCH1 genetic variations and pain sensitivity appear weak or negligible in this well characterized model of pain.											
147936		tetrahydrobiopterin metabolic disorders	METABOLIC	MET		14	14q22.1-q22.2	GCH1	54378473	54439292		Ye, J.  et al. 2007	17407085				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2			CDC GDP info	2643	Hs.86724			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    210-2	Screening for tetrahydrobiopterin metabolic disorders and relatedgene analysis among the patients with motor disturbance and mental retardation.		600225		CDC	2007	Some patients with unknown motor disturbance and mental retardation may suffer from BH4 metabolism related diseases.											
147937	P	dystonia, dopa responsive	NEUROLOGICAL	NEUR		14	14q22.1-q22.2	GCH1	54378473	54439292		Li, J.  et al. 2007	17557242				GTP cyclohydrolase 1 (dopa-responsive dystonia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000161.2			CDC GDP info	2643	Hs.86724			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    302-4	Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia.		600225		CDC	2007	The authors report a new heterozygotic point mutation 151(G>A) in GCH1 gene. There are GCH1 gene mutations in Chinese sporadic patients with DRD.											
147939	Y	diabetes, gestational	METABOLIC	MET		7	7p15.3-p15.1	GCK	44150394	44195563		Shaat, N.  et al. 2006	16639597				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Scandinavian		CDC GDP info	2645	Hs.1270			Diabetologia    2006	Common variants in MODY genes increase the risk of gestational diabetes mellitus		138079		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
147940	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7p15.3-p15.1	GCK	44150394	44195563		Shaat, N.  et al. 2006	16752173				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Scandinavian		CDC GDP info	2645	Hs.1270			Diabetologia    2006    49(7)    1545-51	Common variants in MODY genes increase the risk of gestational diabetes mellitus		138079		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
147941		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Bonnycastle, L. L.  et al. 2006	16936201				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Finnish		CDC GDP info	2645	Hs.1270			Diabetes    2006    55(9)    2534-40	Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns		138079		CDC	2006												
147942	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7p15.3-p15.1	GCK	44150394	44195563		Yamada, Y.  et al. 2006	17070428				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDP info	2645	Hs.1270			Am J Hypertens    2006    19(11)    1158-65	Assessment of the genetic component of hypertension		138079		CDC	2006	These results suggest that the genotypes for ITGA2, GCK, and PTGIS may prove reliable for the assessment of the genetic component of hypertension.											
147944		glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p23	GCKR	27573209	27600054			16401311				Glucokinase (hexokinase 4) regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001486.2	Danish	Denmark	CDC GDP info	2646	Hs.89771			Diabet Med    2005    22(12)    1677-82	Novel polymorphisms in the GCKR gene and their influence on glucose and insulin levels in a Danish twin population		600842		CDC	2005	The C-allele of nt 11216 polymorphism was associated with increased insulin secretion, and may therefore exert a potentially protective effect against Type 2 diabetes. This remains to be shown in a larger study population.											
147945		methylmercury retention	PHARMACOGENOMIC	PHARM		6	6p12	GCLC	53470098	53517790		Custodio, H. M.  et al. 2004	16599007				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDP info	2729	Hs.271264			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		606857		CDC	2004												
147946	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	6	6p12	GCLC	53470098	53517790		McKone, E. F.  et al. 2006	16690975				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDP info	2729	Hs.271264			Am J Respir Crit Care Med    2006	Variants in the Glutamate-Cysteine-Ligase Gene are Associated with Cystic Fibrosis Lung Disease		606857		CDC	2006	In patients with CF with a milder CFTR genotype, there is a strong association between functional polymorphisms of the GCLC gene and CF lung disease severity.											
147948	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p12	GCLC	53470098	53517790		Liu, S.  et al. 2007	17207022				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2		China	CDC GDP info	2729	Hs.271264			Respirology    2007    12(1)    29-33	Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD		606857		CDC	2007												
147949		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		6	6p12	GCLC	53470098	53517790		Jonsson, L. S.  et al. 2007	17333241				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDP info	2729	Hs.271264			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		606857		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
147950		diabetes, type 1 glutamate decarboxylase antibody	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p12	GCLC	53470098	53517790		Bekris, L. M.  et al. 2007	17479437			promoter	Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDP info	2729	Hs.271264			Exp Clin Endocrinol Diabetes    2007    115(4)    221-8	Glutamate Cysteine Ligase Catalytic Subunit Promoter Polymorphisms and Associations with Type 1 Diabetes Age-at-onset and GAD65 Autoantibody Levels		606857		CDC	2007												
147952	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM		1	1p22.1	GCLM	94125177	94147600		Hu, R. C.  et al. 2006	16677451				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDP info	2730	Hs.315562			Zhonghua Jie He He Hu Xi Za Zhi    2006    29(2)    100-3	The relationship between the polymorphism of glutamate cysteine ligase modulatory subunit gene and the susceptibility to chronic obstructive pulmonary disease		601176		CDC	2006	The polymorphism of GCLM -588C/T and -23G/T sites were associated with susceptibility to COPD, and were associated with plasma gamma-GCS activity.		smoking (tobacco)									
147953		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	1	1p22.1	GCLM	94125177	94147600		Bekris, L. M.  et al. 2006	16766924				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDP info	2730	Hs.315562			J Occup Environ Med    2006    48(6)    599-606	Chronic Beryllium Disease and Glutathione Biosynthesis Genes		601176		CDC	2006	This study suggests that GSH modulation may play a role in CBD pathogenesis, but not in sensitization to beryllium.											
147954		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		1	1p22.1	GCLM	94125177	94147600		Jonsson, L. S.  et al. 2007	17333241				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDP info	2730	Hs.315562			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		601176		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
147955		cognitive impairment, vascular stroke, ischemic	NEUROLOGICAL	NEUR	Cerebral Infarction|Dementia, Vascular|Genetic Predisposition to Disease	1	1p22.1	GCLM	94125177	94147600		Baum, L.  et al. 2007	17548779				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDP info	2730	Hs.315562			J Geriatr Psychiatry Neurol    2007    20(2)    93	Polymorphisms and vascular cognitive impairment after ischemic stroke		601176		CDC	2007												
147957	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	20	20q11.2	GDF5	33484562	33505982		Miyamoto, Y.  et al. 2007	17384641			5' untranslated region	Growth differentiation factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032495	Asian		CDC GDP info	8200	Hs.1573			Nat Genet    2007	A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis		601146		CDC	2007												
147959	Y	premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Amenorrhea	5	5q31.1	GDF9	132224776	132228376		Laissue, P.  et al. 2006	16645022				Growth differentiation factor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005260.3			CDC GDP info	2661	Hs.25022			Eur J Endocrinol    2006    154(5)    739-44	Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure		601918		CDC	2006	We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.											
147960		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature|Genetic Predisposition to Disease	5	5q31.1	GDF9	132224776	132228376		Chand, A. L.  et al. 2006	17027369				Growth differentiation factor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005260.3		New Zealand	CDC GDP info	2661	Hs.25022			Fertil Steril    2006    86(4)    1009-1012	Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure		601918		CDC	2006												
147961		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	5	5q31.1	GDF9	132224776	132228376		Zhao, H.  et al. 2007	17482612				Growth differentiation factor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005260.3			CDC GDP info	2661	Hs.25022			Fertil Steril    2007	Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure		601918		CDC	2007												
147962		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	5	5p13.1-p12	GDNF	37851509	37875539		Sangkhathat, S.  et al. 2006	17009072				Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2	Asian		CDC GDP info	2668	Hs.248114			J Hum Genet    2006	Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients		600837		CDC	2006												
147963		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p13.1-p12	GDNF	37851509	37875539		Syed, Z.  et al. 2006	17192954				Glial cell derived neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000514.2			CDC GDP info	2668	Hs.248114			Am J Med Genet B Neuropsychiatr Genet    2006	An investigation of the neurotrophic factor genes GDNF, NGF, and NT3 in susceptibility to ADHD		600837		CDC	2006												
147964		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2p13	GFPT1	69405910	69467829		Kunika, K.  et al. 2006	17024311			Intron	Glutamine-fructose-6-phosphate transaminase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002056.1	Japanese;Caucasian		CDC GDP info	2673	Hs.580300			J Hum Genet    2006	Effect of +36T > C in intron 1 on the glutamine		138292		CDC	2006												
147965		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q26	GFRA1	117812942	118022966			16813162				GDNF family receptor alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005264.3			CDC GDP info	2674	Hs.591913			Mol Biol (Mosk)    2006    40(3)    425-35	RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients		601496		CDC	2006												
147966		warfarin sensitivity	PHARMACOGENOMIC	PHARM		2	2p12	GGCX	85629713	85642090		Herman, D.  et al. 2006	16676068				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3	Caucasian		CDC GDP info	2677	Hs.77719			Thromb Haemost    2006    95(5)    782-7	The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement		137167		CDC	2006												
147967	Y	bone density	METABOLIC	MET		2	2p12	GGCX	85629713	85642090		Kinoshita, H.  et al. 2006	17029979	GGCX  (Arg325Gln)			Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDP info	2677	Hs.77719			Bone    2006	A functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg325Gln) is associated with bone mineral density in elderly Japanese women		137167		CDC	2006												
147968		warfarin sensitivity	PHARMACOGENOMIC	PHARM		2	2p12	GGCX	85629713	85642090		Wadelius, M.  et al. 2006	17048007				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDP info	2677	Hs.77719			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		137167		CDC	2006												
147969		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Cerebrovascular Accident	2	2p12	GGCX	85629713	85642090		Kimura, R.  et al. 2006	17049586				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDP info	2677	Hs.77719			Thromb Res    2006	Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients		137167		CDC	2006												
147971	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	8	8q12.3	GGH	64090192	64113940		Chung, H. H.  et al. 2006	16875718				Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003878.1			CDC GDP info	8836	Hs.78619			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		601509		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
147972		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	8	8q12.3	GGH	64090192	64113940		Dervieux, T.  et al. 2006	17009228				Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003878.1			CDC GDP info	8836	Hs.78619			Arthritis Rheum    2006    54(10)    3095-3103	Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis		601509		CDC	2006	RBC MTXPG levels are a useful means by which to monitor therapy.											
147973		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	8	8q12.3	GGH	64090192	64113940		van der Straaten, R.  et al. 2007	17286537				Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003878.1			CDC GDP info	8836	Hs.78619			Pharmacogenomics    2007    8(2)    141-150	Exploratory analysis of four polymorphisms in human GGH and FPGS genes and their effect in methotrexate-treated rheumatoid arthritis patients		601509		CDC	2007			methotrexate									
147975		hypertension stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension	17	17q24.2	GH1	59348294	59349930		Horan, M.  et al. 2006	16572267				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDP info	2688	Hs.500468			Hum Genet    2006	Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke		139250		CDC	2006												
147976		schizophrenia	PSYCH	PSY	Schizophrenia	17	17q24.2	GH1	59348294	59349930		Gunnell, D.  et al. 2007	17044098				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340	Irish		CDC GDP info	2688	Hs.500468			Am J Med Genet B Neuropsychiatr Genet    2007    144(1)    117-20	IGF1, growth pathway polymorphisms and schizophrenia		139250		CDC	2007												
147977		body mass diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q24.2	GH1	59348294	59349930		Gloria-Bottini, F.  et al. 2006	17211558				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340	Caucasian		CDC GDP info	2688	Hs.500468			Acta Diabetol    2006    43(4)    99-102	Genetic polymorphism within human growth hormone gene region and BMI in type 2 diabetes		139250		CDC	2006												
147978		growth hormone	DEVELOPMENTAL	DEV	Growth Disorders	17	17q24.2	GH1	59348294	59349930		Gloria-Bottini, F.  et al. 2007	17400806				Growth hormone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD516340			CDC GDP info	2688	Hs.500468			J Endocrinol    2007    193(1)    85-92	Functional aspects of genetic variability in the GH genomic region		139250		CDC	2007												
147980		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	5	5p13-p12	GHR	42459782	42757683		Rudd, M. F.  et al. 2006	16741161				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2	Caucasian		CDC GDP info	2690	Hs.125180			Genome Res    2006    16(6)    693-701	Variants in the GH-IGF axis confer susceptibilityto lung cancer		600946		CDC	2006												
147981	Y	small-for-gestational-age	DEVELOPMENTAL	DEV	Dwarfism, Pituitary|Growth Disorders	5	5p13-p12	GHR	42459782	42757683		Audi, L.  et al. 2006	17003087	d3/fl-GHR			Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			J Clin Endocrinol Metab    2006	Exon 3-deleted/full-length growth hormone receptor polymorphism (d3/fl-GHR) genotype frequencies in Spanish short small-for-gestational-age (SGA) children and adolescents (n = 247) and in an adult control population (n = 289) show increased fl/fl in short		600946		CDC	2006	Our data showed significant differences in the frequency distribution of the d3/fl-GHR genotypes between a normally distributed adult height population and short SGA children, with the biologically less active fl/fl genotype being almost twice as frequent in SGA patients. These data suggest that the d3/fl-GHR polymorphism might be considered among the factors that contribute to the phenotypic expression of growth.											
147982	N	bone density height	METABOLIC	MET		5	5p13-p12	GHR	42459782	42757683		Kenth, G.  et al. 2006	17090634				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			J Clin Endocrinol Metab    2006	BRIEF REPORT		600946		CDC	2006	The hGHR 3+ and 3- isoforms appear not to have differential effects on two major growth outcomes of hGH action, FAH, and BMD in a population of healthy adult women.											
147983	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5p13-p12	GHR	42459782	42757683		Kokubo, Y.  et al. 2006	17137217				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		600946		CDC	2006												
147984		body mass prostate cancer	CANCER	CAN	Prostatic Neoplasms	5	5p13-p12	GHR	42459782	42757683		McKay, J. D.  et al. 2007	17220348				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Cancer Epidemiol Biomarkers Prev    2007    16(1)    169-73	Haplotype-based analysis of common variation in the growth hormone receptor gene and prostate cancer risk		600946		CDC	2007												
147985		growth homones insulin	METABOLIC	MET	Insulin Resistance	5	5p13-p12	GHR	42459782	42757683		Mericq, V.  et al. 2007	17347571				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Horm Res    2007    68(3)    132-138	Relationship between Nocturnal Growth Hormone Concentrations, Serum IGF-I/IGFBP-3 Levels, Insulin Sensitivity and GH Receptor Allelic Variant in Small for Gestational Age Children		600946		CDC	2007												
147987	Y	grow intrauterine growth	REPRODUCTION	REP	Birth Weight	5	5p13-p12	GHR	42459782	42757683		Jensen, R. B.  et al. 2007	17426087	d3-GHR allele			Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			J Clin Endocrinol Metab    2007	The presence of the d3-Growth Hormone (GH) Receptor Polymorphism is negatively associated with fetal growth but positively associated with postnatal growth in healthy subjects		600946		CDC	2007	This study showed an increased spontaneous postnatal growth velocity in the carriers of the d3-GHR allele. Interestingly, we found the opposite effect on prenatal growth in the SGA group, with a decreased FGV in carriers of the d3-GHR allele.											
147988		scoliosis	OTHER	OTH	Bone Diseases, Metabolic|Scoliosis|Genetic Predisposition to Disease	5	5p13-p12	GHR	42459782	42757683		Qiu, X. S.  et al. 2007	17514010				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Clin Orthop Relat Res    2007	Genetic Association Study of Growth Hormone Receptor and Idiopathic Scoliosis		600946		CDC	2007												
147989	Y	diabetes, type 2 metabolism syndrome	METABOLIC	MET	Metabolic Diseases|Diabetes Mellitus, Type 2|Glucose Intolerance	5	5p13-p12	GHR	42459782	42757683		Strawbridge, R. J.  et al. 2007	17537658				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Growth Horm IGF Res    2007	GHR exon 3 polymorphism		600946		CDC	2007	homozygosity for the GHR(d3) allele appears to be preventive of T2DM.											
147990		height	DEVELOPMENTAL	DEV		5	5p13-p12	GHR	42459782	42757683		Lettre, G.  et al. 2007	17546465				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		600946		CDC	2007												
147991	Y	cholesterol height	PHARMACOGENOMIC	PHARM	Hypopituitarism	5	5p13-p12	GHR	42459782	42757683		Ihara, K.  et al. 2007	17547682				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Clin Endocrinol (Oxf)    2007	The Leu544Ile polymorphism of the growth hormone receptor gene affects the serum cholesterol levels during GH treatment in children with GH deficiency		600946		CDC	2007	The Leu544Ile polymorphism of the GHR gene is associated with cholesterol levels in boys with GH deficiency.		growth hormone									
147993	Y	growth hormone concentrations insulin-like growth factor	METABOLIC	MET	Acromegaly	5	5p13-p12	GHR	42459782	42757683		Schmid, C.  et al. 2007	17573420				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Clin Chem    2007	Growth Hormone (GH) Receptor Isoform in Acromegaly		600946		CDC	2007	The GHR fl/d3 genotype modulates the relationship between GH and IGF-1 concentrations in patients presenting with acromegaly.											
147994		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q11.2	GHRH	35312903	35323652		Wagner, K.  et al. 2006	16606630				Growth hormone releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021081.3	German;Polish		CDC GDP info	2691	Hs.37023			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		139190		CDC	2006												
147995		height	DEVELOPMENTAL	DEV		20	20q11.2	GHRH	35312903	35323652		Lettre, G.  et al. 2007	17546465				Growth hormone releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021081.3			CDC GDP info	2691	Hs.37023			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		139190		CDC	2007												
147996		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p14	GHRHR	30970160	30985668		Wagner, K.  et al. 2006	16606630				Growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2	German;Polish		CDC GDP info	2692	Hs.767			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		139191		CDC	2006												
147997	N	body mass height insulin	METABOLIC	MET	Insulin Resistance	7	7p14	GHRHR	30970160	30985668		Pereira, R. M.  et al. 2007	17356054				Growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2	Brazilian		CDC GDP info	2692	Hs.767			J Clin Endocrinol Metab    2007	Heterozygosity for a Mutation in the Growth Hormone Releasing Hormone Receptor Gene Does Not Influence Adult Stature, But Affects Body Composition		139191		CDC	2007												
147998		height	DEVELOPMENTAL	DEV		7	7p14	GHRHR	30970160	30985668		Lettre, G.  et al. 2007	17546465				Growth hormone releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000823.2			CDC GDP info	2692	Hs.767			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		139191		CDC	2007												
147999		obesity	METABOLIC	MET	Obesity	3	3p26-p25	GHRL	10302433	10307409		Jo, D. S.  et al. 2005	16459454				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Korean		CDC GDP info	51738	Hs.590080			J Pediatr Endocrinol Metab    2005    18(11)    1083-6	Preproghrelin Leu72Met polymorphism in obese Korean children		605353		CDC	2005												
148000	N	anorexia nervosa bulimia	PSYCH	PSY	Anorexia Nervosa|Bulimia Nervosa	3	3p26-p25	GHRL	10302433	10307409		Monteleone, P.  et al. 2006	16472909	GHRL  Arg51Gln and Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Caucasian		CDC GDP info	51738	Hs.590080			Neurosci Lett    2006	No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene with anorexia nervosa or bulimia nervosa		605353		CDC	2006												
148001	N	blood urea nitrogen cholesterol creatinine diabetes, type 2 hypertension insulin lipoprotein macroangiopathy retinopathy, diabetic triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Kim, S. Y.  et al. 2006	16483881	GHRL  Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Metabolism    2006    55(3)    366-70	Preproghrelin Leu72Met polymorphism is not associated with type 2 diabetes mellitus		605353		CDC	2006												
148002		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Wagner, K.  et al. 2006	16606630				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	German;Polish		CDC GDP info	51738	Hs.590080			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		605353		CDC	2006												
148004	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Lee, D. Y.  et al. 2006	16793966	GHRL  72Met carrier status			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Eur J Endocrinol    2006    155(1)    187-90	Preproghrelin Leu72Met polymorphism predicts a lower rate of developing renal dysfunction in type 2 diabetic nephropathy		605353		CDC	2006	These data suggest that 72Met carrier status may be used as a marker predicting a lower chance of developing renal dysfunction in diabetic nephropathy.											
148005	Y	body mass	METABOLIC	MET	Obesity|Body Weight	3	3p26-p25	GHRL	10302433	10307409		Kuzuya, M.  et al. 2006	16865101				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2		Japan	CDC GDP info	51738	Hs.590080			Int J Obes (Lond)    2006	Preproghrelin Leu72Met variant contributes to overweight in middle-aged men of a Japanese large cohort		605353		CDC	2006	These results suggest that the 72Met allele of the preproghrelin gene is a contributing factor for midlife weight change in men.											
148006		bulimia	PSYCH	PSY	Genetic Predisposition to Disease|Bulimia Nervosa	3	3p26-p25	GHRL	10302433	10307409		Ando, T.  et al. 2006	16921495				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Am J Med Genet B Neuropsychiatr Genet    2006	Possible role of preproghrelin gene polymorphisms in susceptibility to bulimia nervosa		605353		CDC	2006												
148007	N	cholesterol, HDL diabetes, type 2 glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Choi, H. J.  et al. 2006	16954159				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Korean	Korea	CDC GDP info	51738	Hs.590080			J Clin Endocrinol Metab    2006	Polymorphisms in the Ghrelin Gene are Associated with Serum High-Density Lipoprotein Cholesterol Level and not with Type 2 Diabetes Mellitus in Koreans		605353		CDC	2006	The aforementioned four common polymorphisms in the ghrelin gene were not found to be significantly associated with susceptibility to type 2 diabetes mellitus in the Korean population.											
148009	Y	eating disorder	PSYCH	PSY	Bulimia	3	3p26-p25	GHRL	10302433	10307409		Monteleone, P.  et al. 2007	17167339	Leu72Met			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Psychiatr Genet    2007    17(1)    13-6	The Leu72Met polymorphism of the ghrelin gene is significantly associated with binge eating disorder		605353		CDC	2007	Although these data should be regarded as preliminary because of the small sample size, they suggest that the Leu72Met ghrelin gene variant may contribute to the genetic susceptibility to binge eating disorder.											
148010		anorexia nervosa	PSYCH	PSY	Body Weight|Anorexia Nervosa	3	3p26-p25	GHRL	10302433	10307409		Dardennes, R. M.  et al. 2006	17197106				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	French		CDC GDP info	51738	Hs.590080			Psychoneuroendocrinology    2006	Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa		605353		CDC	2006												
148011		atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3p26-p25	GHRL	10302433	10307409		Baessler, A.  et al. 2007	17324965				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Caucasian;German		CDC GDP info	51738	Hs.590080			Hum Mol Genet    2007	Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease		605353		CDC	2007												
148013	Y	body mass cholesterol, HDL	METABOLIC	MET	Genetic Predisposition to Disease|Body Weight|Eating Disorders	3	3p26-p25	GHRL	10302433	10307409		Ando, T.  et al. 2007	17616759				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Am J Clin Nutr    2007    86(1)    25-32	Variations in the preproghrelin gene correlate with higher body mass index, fat mass, and body dissatisfaction in young Japanese women		605353		CDC	2007	Our findings suggest that the preproghrelin gene 3056T-->C SNP is associated with changes in basal ghrelin concentrations and physical and psychological variables related to eating disorders and obesity.											
148014	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Genetic Predisposition to Disease	3	3q26.31	GHSR	173645644	173648897		Baessler, A.  et al. 2006	16567594				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1			CDC GDP info	2693	Hs.248115			Hypertension    2006	Association of the Ghrelin Receptor Gene Region With Left Ventricular Hypertrophy in the General Population. Results of the MONICA/KORA Augsburg Echocardiographic Substudy		601898		CDC	2006												
148015		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3q26.31	GHSR	173645644	173648897		Wagner, K.  et al. 2006	16606630				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1	German;Polish		CDC GDP info	2693	Hs.248115			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		601898		CDC	2006												
148017	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7q36.1	GIMAP5	150065383	150071669		Hellquist, A.  et al. 2007	17220214				GTPase, IMAP family member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018384			CDC GDP info	55340	Hs.647079			J Med Genet    2007	The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus (SLE)				CDC	2007	Taken together, the data suggest the role of GIMAP5 in the pathogenesis of SLE.											
148018		atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Wong, C. W.  et al. 2006	16677656				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2			CDC GDP info	2701	Hs.296310			Atherosclerosis    2006	Do allelic variants of the connexin37 1019 gene polymorphism differentially predict for coronary artery disease and myocardial infarction?		121012		CDC	2006	our results reveal the importance of screening the Cx37-1019C allele for both CAD and MI risk assessments.											
148019		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypertension metabolic syndrome obesity stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Yamada, Y.  et al. 2006	16998253				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2		Japan	CDC GDP info	2701	Hs.296310			Circ J    2006    70(10)    1240-8	Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke		121012		CDC	2006	Identification of gene polymorphisms that confer susceptibility to cardiovascular diseases or stroke and the development of genetic risk diagnosis systems may contribute to the personalized prevention of these conditions.											
148020	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Collings, A.  et al. 2006	17196598				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2	Finnish		CDC GDP info	2701	Hs.296310			Atherosclerosis    2006	Associations between connexin37 gene polymorphism and markers of subclinical atherosclerosis		121012		CDC	2006	The connexin37 C1019T polymorphism is not related with markers of subclinical atherosclerosis in young adults.											
148022	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q21.1	GJA5	145694955	145712108		Firouzi, M.  et al. 2006	16508580			promoter	Gap junction protein, alpha 5, 40kDa (connexin 40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005266.4			CDC GDP info	2702	Hs.447968			J Hypertens    2006    24(2)    325-30	Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men		121013		CDC	2006	These findings suggest that the Cx40 polymorphisms may form a genetic susceptibility factor for essential hypertension in men.											
148023	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Tachycardia, Supraventricular	1	1q21.1	GJA5	145694955	145712108		Hauer, R. N.  et al. 2006	16646598				Gap junction protein, alpha 5, 40kDa (connexin 40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005266.4			CDC GDP info	2702	Hs.447968			Adv Cardiol    2006    42    284-91	Cx40 polymorphism in human atrial fibrillation		121013		CDC	2006	The rare linked Cx40 polymorphisms are associated with enhanced CD and thus with the substrate for reentry in AF.											
148024	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation	1	1q21.1	GJA5	145694955	145712108		Juang, J. M.  et al. 2006	16814413				Gap junction protein, alpha 5, 40kDa (connexin 40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005266.4			CDC GDP info	2702	Hs.447968			Int J Cardiol    2006	The association of human connexin 40 genetic polymorphisms with atrial fibrillation		121013		CDC	2006	The two SNPs in the promoter region of the Cx40 gene were significantly associated with Af.											
148025	Y	schizophrenia	PSYCH	PSY	Schizophrenia	1	1q21.1	GJA8	145841559	145848017		Ni, X.  et al. 2007	17412882				Gap junction protein, alpha 8, 50kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005267	Caucasian;Portuguese		CDC GDP info	2703	Hs.632441			J Med Genet    2007	Connexin50 gene on human chromosome 1q21 is associated with schizophrenia in matched case-control and family- based studies		600897		CDC	2007	Our matched case-control and family study indicate that Cx50, but not Cx40, may play a role in the genetic susceptibility to schizophrenia.											
148027		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss|Syndrome|Genetic Predisposition to Disease	13	13q11-q12	GJB2	19659604	19665114			16406239				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Tunisian	Tunisia	CDC GDP info	2706	Hs.591234			Biochem Biophys Res Commun    2006    340(4)    1251-1258	Mutational analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in Tunisian patients with nonsyndromic hearing loss		121011		CDC	2006												
148028		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114			16425640				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDP info	2706	Hs.591234			Acta Otorrinolaringol Esp    2005    56(10)    463-8	Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset		121011		CDC	2005	These four mutations are present in 36.											
148029			OTHER	OTH	Hearing Loss	13	13q11-q12	GJB2	19659604	19665114		Gravina, L. P.  et al. 2007	17276518				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Spanish;Caucasian; European	Argentina	CDC GDP info	2706	Hs.591234			Int J Pediatr Otorhinolaryngol    2007	Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population Impact on the newborn hearing screening		121011		CDC	2007	Taking into account the 35delG carrier frequency found in this study, it could be estimated that 130-160 children with congenital deafness due to mutations in the connexin genes would be born per year in Argentina. In contrast, the mitochondrial mutation A1555G appears to be infrequent in general Argentinean population.											
148031		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss	13	13q11-q12	GJB2	19659604	19665114		Samanich, J.  et al. 2007	17357124				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	African American;Hispanic Caucasian	Caribbean Region	CDC GDP info	2706	Hs.591234			Am J Med Genet A    2007	Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment		121011		CDC	2007												
148032	P		NORMALVARIATION	NV		13	13q11-q12	GJB2	19659604	19665114		Oliveira, C. A.  et al. 2007	17394388				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3	Brazilian;European;Indian		CDC GDP info	2706	Hs.591234			Genet Test    2007    11(1)    1-3	Allelic Frequencies of The 35delG Mutation of The GJB2 Gene in Different Brazilian Regions		121011		CDC	2007												
148033		cytomegalovirus hearing loss/deafness	INFECTION	INF	Cytomegalovirus Infections|Hearing Loss, Sensorineural	13	13q11-q12	GJB2	19659604	19665114		Ross, S. A.  et al. 2007	17426645				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDP info	2706	Hs.591234			Pediatr Res    2007	GJB2 and GJB6 Mutations in Children with Congenital Cytomegalovirus Infection		121011		CDC	2007												
148034		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss|Syndrome|Genetic Predisposition to Disease	1	1p34	GJB3	35019376	35025436			16406239				Gap junction protein, beta 3, 31kDa (connexin 31)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024009.2	Tunisian	Tunisia	CDC GDP info	2707	Hs.522561			Biochem Biophys Res Commun    2006    340(4)    1251-1258	Mutational analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in Tunisian patients with nonsyndromic hearing loss		603324		CDC	2006												
148036		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss	13	13q11-q12.1	GJB6	19694100	19704372		Samanich, J.  et al. 2007	17357124				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2	African American;Hispanic Caucasian	Caribbean Region	CDC GDP info	10804	Hs.511757			Am J Med Genet A    2007	Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment		604418		CDC	2007												
148037		cytomegalovirus hearing loss/deafness	INFECTION	INF	Cytomegalovirus Infections|Hearing Loss, Sensorineural	13	13q11-q12.1	GJB6	19694100	19704372		Ross, S. A.  et al. 2007	17426645				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDP info	10804	Hs.511757			Pediatr Res    2007	GJB2 and GJB6 Mutations in Children with Congenital Cytomegalovirus Infection		604418		CDC	2007												
148039		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	X	Xq22	GLA	100539434	100549657		Morita, H.  et al. 2006	16754800				Galactosidase, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000169.1		United States	CDC GDP info	2717	Hs.69089			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		301500		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
148040		hyperglycinemia, nonketotic	METABOLIC	MET	Hyperglycinemia, Nonketotic	9	9p22	GLDC	6522463	6635692		Kure, S.  et al. 2006	16450403				Glycine dehydrogenase (decarboxylating)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000170	Caucasian		CDC GDP info	2731	Hs.584238			Hum Mutat    2006	Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia		238300		CDC	2006												
148041		ventricular septal defect	CARDIOVASCULAR	CARD	Heart Septal Defects, Ventricular|Genetic Predisposition to Disease	12	12q13.2-q13.3	GLI1	56140200	56152312			16537020				Glioma-associated oncogene homolog 1 (zinc finger protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005269			CDC GDP info	2735	Hs.632702			Chin Med J (Engl)    2006    119(4)    267-74	Association of the GLI gene with ventricular septal defect after the susceptibility gene being narrowed to 3.56 cM in 12q13				CDC	2006	The susceptibility gene of VSD was mapped to 3.											
148042		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q14	GLI2	121210292	121466321		Beaty, T. H.  et al. 2006	16953426				GLI-Kruppel family member GLI2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005270.3	Singapore		CDC GDP info	2736	Hs.111867			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		165230		CDC	2006												
148043	Y	talipes equinovarus	DEVELOPMENTAL	DEV		7	7p13	GLI3	41967072	42243137		Zhang, X.  et al. 2006	17029207				GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000168			CDC GDP info	2737	Hs.21509			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    551-554	Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus.		165240		CDC	2006	There is an association between GLI3 gene and ICTEV, and exons 9,10,11,12 are not its mutation hot spots.											
148045		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting|Genetic Predisposition to Disease	6	6p21.3-p21.1	GLO1	38751679	38778930		Sidoti, A.  et al. 2007	17463067				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDP info	2739	Hs.268849			Mult Scler    2007    13(4)    446-53	Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms		138750		CDC	2007												
148046	N	breast cancer	CANCER	CAN		6	6p22.2	GMNN	24883137	24894257		Gao, J.  et al. 2006	17029205				Geminin, DNA replication inhibitor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ064691			CDC GDP info	51053	Hs.234896			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    544-547	The association of polymorphisms of CDT1 and GMNN gene with the risk of breast cancer in Chinese women				CDC	2006	These findings suggest that the CDT1 838G/A and GMNN 387C/A polymorphisms may not play a major role in the etiology of breast cancer, but CDT1 variant may have a potential role only in genetically susceptible women.											
148048	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	20	20q13.2-q13.3	GNAS	56848189	56919645			16406317	GNAS1 T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4	Italian	Italy	CDC GDP info	2778	Hs.125898			Neurosci Lett    2006	The T393C polymorphism of the GNAS1 gene is associated with deficit schizophrenia in an Italian population sample		139320		CDC	2006												
148049	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Disease Progression	20	20q13.2-q13.3	GNAS	56848189	56919645		Frey, U. H.  et al. 2006	16467086				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDP info	2778	Hs.125898			Clin Cancer Res    2006    12(3)    759-63	The GNAS1 T393C Polymorphism Predicts Survival in Patients with Clear Cell Renal Cell Carcinoma		139320		CDC	2006	Our results show that besides tumor stage, lymph node status, and tumor grade, the GNAS1 T393C status is a novel independent host factor for disease progression in patients with clear cell renal cell carcinoma and provides further evidence for the T393C polymorphism as a general prognostic tumor marker.											
148051	N	insulin obesity polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity|Body Weight	20	20q13.2-q13.3	GNAS	56848189	56919645		Hahn, S.  et al. 2006	17062894				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4	Caucasian;German		CDC GDP info	2778	Hs.125898			Eur J Endocrinol    2006    155(5)    763-70	The CC genotype of the GNAS T393C polymorphism is associated with obesity and insulin resistance in women with polycystic ovary syndrome		139320		CDC	2006	The T393C polymorphism is not associated with PCOS in Caucasian women, but may represent a genetic marker for increased susceptibility for obesity in this cohort.											
148052	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness	20	20q13.2-q13.3	GNAS	56848189	56919645		Otterbach, F.  et al. 2006	17186357	GNAS1 T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDP info	2778	Hs.125898			Breast Cancer Res Treat    2006	The T393C polymorphism in the gene GNAS1 of G protein is associated with survival of patients with invasive breast carcinoma		139320		CDC	2006												
148054	Y	migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	20	20q13.2-q13.3	GNAS	56848189	56919645		Oterino, A.  et al. 2007	17388805	GNAS1 T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4		Spain	CDC GDP info	2778	Hs.125898			Cephalalgia    2007	GNAS1 T393C polymorphism is associated with migraine		139320		CDC	2007	the GNAS1 T393C variant is associated with migraine, which suggests a genetic basis for its higher SNS sensitivity.											
148055	N	retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	1	1p36.33	GNB1	1706588	1812355		Mylvaganam, G. H.  et al. 2006	17167406				Guanine nucleotide binding protein (G protein), beta polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002074.2			CDC GDP info	2782	Hs.430425			Mol Vis    2006    12    1496-8	A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa		139380		CDC	2006	No likely pathogenic GNB1 mutations have been found in any of 185 unrelated patients with ADRP.											
148056		blood pressure, arterial diuretic effects heart rate hypokalemia	PHARMACOGENOMIC	PHARM		12	12p13	GNB3	6819378	6826818		Vormfelde, S. V.  et al. 2006	16450155				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Eur J Clin Pharmacol    2006        1-7	Hydrochlorothiazide efficacy and polymorphisms in ACE, ADD1 and GNB3 in healthy, male volunteers		139130		CDC	2006	The effects of genetic polymorphisms were stronger with the higher diuretic dose.		hydrochlorothiazide									
148058	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Marcun Varda, N.  et al. 2006	16497648				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Caucasian		CDC GDP info	2784	Hs.631657			Acta Paediatr    2006    95(3)    353-8	Polymorphisms in four candidate genes in young patients with essential hypertension		139130		CDC	2006	they do not confer a significantly increased risk of the development of EH in the Slovenian population of hypertensive children.											
148059		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Suh, I.  et al. 2006	16615274				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2	Korean		CDC GDP info	2784	Hs.631657			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		139130		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
148060		sexual side-effects	PHARMACOGENOMIC	PHARM	Sexual Dysfunction, Physiological|Sexual Dysfunctions, Psychological	12	12p13	GNB3	6819378	6826818		Bishop, J. R.  et al. 2006	16710319				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Neuropsychopharmacology    2006	Serotonin 2A -1438 G/A and G-Protein Beta3 Subunit C825T Polymorphisms in Patients with Depression and SSRI-Associated Sexual Side-Effects		139130		CDC	2006			antidepressants									
148061		suicide	PSYCH	PSY		12	12p13	GNB3	6819378	6826818		Hishimoto, A.  et al. 2006	16736244				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			J Neural Transm    2006	Association between a functional polymorphism in the renin-angiotensin system and completed suicide		139130		CDC	2006												
148062	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13	GNB3	6819378	6826818		Kedzierska, K.  et al. 2004	16871746				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Ann Acad Med Stetin    2004    50(1)    75-86	Activity of the sodium-proton exchanger and polymorphism of G-protein beta-3 subunit in patients with essential hypertension		139130		CDC	2004												
148063	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	12	12p13	GNB3	6819378	6826818		Carmichael, S. L.  et al. 2006	17036337				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		139130		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
148065		myocardial infarct stroke	PHARMACOGENOMIC	PHARM	Myocardial Infarction|Hypertension|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Schelleman, H.  et al. 2006	17189961				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Pharmacogenomics J    2006	Diuretic-gene interaction and the risk of myocardial infarction and stroke		139130		CDC	2006			diuretic therapy									
148067		schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	12	12p13	GNB3	6819378	6826818		Anttila, S.  et al. 2007	17521439				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			BMC Psychiatry    2007    7(1)    22	Association between 5-HT2A, TPH1 and GNB3 genotypes and response to typical neuroleptics		139130		CDC	2007	More findings on the consequences of functional polymorphisms for the role of serotonin in the development of brain and serotonergic neurotransmission are needed before more detailed hypotheses regarding susceptibility and outcome in schizophrenia can be formulated.		neuroleptic response									
148068		weight loss	PHARMACOGENOMIC	PHARM	Obesity|Weight Loss	12	12p13	GNB3	6819378	6826818		Vazquez Roque, M. I.  et al. 2007	17544870				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Clin Gastroenterol Hepatol    2007	Alteration of Gastric Functions and Candidate Genes Associated With Weight Reduction in Response to Sibutramine		139130		CDC	2007	Weight reduction with sibutramine is associated with$$$ altered gastric functions and increased peptide YY and is significantly associated with SLC6A4 genotype.		sibutramine									
148070	Y	depression	PSYCH	PSY	Depressive Disorder	12	12p13	GNB3	6819378	6826818		Cao, M. Q.  et al. 2007	17621167	GNB3 C825T			Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Psychiatr Genet    2007    17(4)    233-8	Study on the interrelationship between 5-HTTLPR/G-protein beta3 subunit (C825T) polymorphisms and depressive disorder		139130		CDC	2007	These results indicated that the etiology of depressive disorder is associated with$$$ 5-HTTLPR and GNbeta3 C825T polymorphisms. Our data also suggests that an interaction effect may exist between the 5-HTTLPR S allele and GNbeta3 825T allele in increasing the risk of depressive disorder.			GNB3	GNB3   825T	SLC6A4	SLC6A4  S allele					
148071	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	6	6p12	GNMT	43036477	43039596		Huang, Y. C.  et al. 2007	17332283				Glycine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018960.4			CDC GDP info	27232	Hs.144914			Clin Cancer Res    2007    13(5)    1412-20	Haplotypes, loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer		606628		CDC	2007	Our findings suggest that GNMT is a tumor susceptibility gene for prostate cancer.											
148072		schizophrenia sustained attention	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42	GNPAT	229443604	229480156		Liu, Y. L.  et al. 2006	16997000				Glyceronephosphate O-acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023953			CDC GDP info	8443	Hs.498028			Biol Psychiatry    2006    60(6)    554-62	A Single Nucleotide Polymorphism Fine Mapping Study of Chromosome 1q42.1 Reveals the Vulnerability Genes for Schizophrenia, GNPAT and DISC1		602744		CDC	2006	Chromosome 1q42.											
148073	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8p21-p11.2	GNRH1	25332692	25337836		Berndt, S. I.  et al. 2007	17220347				Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000825.2	non-Hispanic		CDC GDP info	2796	Hs.82963			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		152760		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
148074	Y	hypogonaotropic hypogonadism	METABOLIC	MET	Hypogonadism	4	4q21.2	GNRHR	68285693	68304399		Lanfranco, F.  et al. 2005	16322390				Gonadotropin-releasing hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000406.2			CDC GDP info	2798	Hs.407587			Eur J Endocrinol    2005    153(6)    845-52	Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism		138850		CDC	2005	Mutations of the GnRHR and of the GPR54 gene are rare in IHH and should be investigated especially in cases with autosomal recessive transmission.											
148075		platelet aggregation	CARDIOVASCULAR	CARD	Atherosclerosis|Thrombosis	17	17pter-p12	GP1BA	4776371	4779067		Williams, M. S.  et al. 2006	16986133				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	African American;Caucasian		CDC GDP info	2811	Hs.1472			Am J Hematol    2006	Platelet functional implications of glycoprotein Ibalpha polymorphisms in African Americans		606672		CDC	2006												
148077		heart disease, ischemic	PHARMACOGENOMIC	PHARM	Coronary Disease|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Bray, P. F.  et al. 2006	17105818				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Blood    2006	Effect of genetic variations in platelet glycoproteins Ib{alpha} and VI on the risk for coronary heart disease in postmenopausal women taking hormone therapy		606672		CDC	2006			hormone replacement therapy									
148078	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	17	17pter-p12	GP1BA	4776371	4779067		Nishihama, K.  et al. 2007	17143557				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		606672		CDC	2007			diabetes hypercholesterolemia hypertension									
148080	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17pter-p12	GP1BA	4776371	4779067		Candore, G.  et al. 2006	17261793				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Ann N Y Acad Sci    2006    1089    502-8	Association between Platelet Glycoprotein Ib-{alpha} and Myocardial Infarction		606672		CDC	2006												
148081	Y	recurrent coronary event	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetic Angiopathies|Hypertriglyceridemia|Recurrence	17	17pter-p12	GP1BA	4776371	4779067		Corsetti, J. P.  et al. 2007	17303802				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Diabetes    2007	Glycoprotein Ib{alpha} Polymorphism (T145M), Elevated Lipoprotein-Associated Phospholipase A2, and Hypertriglyceridemia Predict Risk for Recurrent Coronary Events in Diabetic Postinfarction Patients		606672		CDC	2007	the M allele of the T145M polymorphism of the GPIbalpha subunit predicts risk for recurrent coronary events in diabetic postinfarction patients, but not in nondiabetic postinfarction patients, supportive of an important role for platelet hyperactivation in diabetic coronary heart disease.											
148083	Y	atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD		17	17pter-p12	GP1BA	4776371	4779067		Pellikka, M.  et al. 2007	17619827	ThrThr/TT haplotype of GPIbalpha			Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3	Caucasian;Finnish		CDC GDP info	2811	Hs.1472	protective		J Thromb Thrombolysis    2007	Platelet GPIbalpha, GPIV and vWF polymorphisms and fatal pre-hospital MI among middle-aged men		606672		CDC	2007	The combined ThrThr/TT haplotype of GPIbalpha as well as the AA genotype of GPIV seem to decrease the risk of fatal MI among men during early middle-age.											
148084		platelet function	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Diabetes Mellitus	19	19q13.4	GP6	60216886	60241444		Lepantalo, A.  et al. 2006	16493486				Glycoprotein VI (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016363.3			CDC GDP info	51206	Hs.631589			Thromb Haemost    2006    95(2)    253-9	Polymorphisms of COX-1 and GPVI associate with the antiplatelet effect of aspirin in coronary artery disease patients		605546		CDC	2006			aspirin									
148085		heart disease, ischemic	PHARMACOGENOMIC	PHARM	Coronary Disease|Genetic Predisposition to Disease	19	19q13.4	GP6	60216886	60241444		Bray, P. F.  et al. 2006	17105818				Glycoprotein VI (platelet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016363.3			CDC GDP info	51206	Hs.631589			Blood    2006	Effect of genetic variations in platelet glycoproteins Ib{alpha} and VI on the risk for coronary heart disease in postmenopausal women taking hormone therapy		605546		CDC	2006			hormone replacement therapy									
148086		leukodystrophies	NEUROLOGICAL	NEUR	Hereditary Central Nervous System Demyelinating Diseases	X	Xp22.2	GPM6B	13698982	13866752		Combes, P.  et al. 2006	16416265				Glycoprotein M6B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001995			CDC GDP info	2824	Hs.495710			Neurogenetics    2006    7(1)    31-7	PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies		300051		CDC	2006												
148087	Y	bronchopulmonary dysplasia respiratory distress syndrome, neonatal	IMMUNE	IMM	Asthma|Bronchopulmonary Dysplasia|Respiratory Distress Syndrome, Newborn	2	2q33.3	GPR1	206748284	206790880		Pulkkinen, V.  et al. 2006	16938805				G protein-coupled receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005279	Finnish		CDC GDP info	2825	Hs.184907			Ann Med    2006    38(5)    357-66	G protein-coupled receptor for asthma susceptibility associates with respiratory distress syndrome		600239		CDC	2006	The results suggest that near-term RDS and asthma share the same susceptibility and protective GPRA haplotypes. Altered GPRA expression may play a role in the pathogenesis of RDS and BPD in preterm infants.											
148088	N	asthma atopy IgE	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	11	11q12-q13.3	GPR44	60374982	60380020		Maeda, Y.  et al. 2007	17016057				G protein-coupled receptor 44	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004778.1		Japan	CDC GDP info	11251	Hs.299567			Int Arch Allergy Immunol    2007    142(1)    51-8	Genetic impact of functional single nucleotide polymorphisms in the 3'-UTR region of the chemoattractant receptor expressed on Th2 cells (CRTH2) gene on asthma and atopy in a Japanese population		604837		CDC	2007	Our data failed to support previous associations of functional polymorphisms at the 3\-UTR of the CRTH2 gene implicated in asthma. We did show a significant difference in the allele and genotype frequencies as well as different haplotype frequencies among African American, Chinese, and Japanese populations, suggesting that the genetic impacts of these functional polymorphisms on asthma and asthma-related phenotypes may vary in different populations.											
148089	Y	body mass obesity triglycerides	METABOLIC	MET	Obesity	X	Xq28	GPR50	150095782	150100595		Bhattacharyya, S.  et al. 2006	16436372				G protein-coupled receptor 50	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004224.1	Caucasian		CDC GDP info	9248	Hs.567390			J Lipid Res    2006	Sequence variants in the melatonin-related receptor (GPR50) gene associate with circulating triglyceride and HDL levels		300207		CDC	2006												
148090	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xq28	GPR50	150095782	150100595		Alaerts, M.  et al. 2006	17106423				G protein-coupled receptor 50	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004224.1	Scottish		CDC GDP info	9248	Hs.567390			Psychiatr Genet    2006    16(6)    235-236	Lack of association of an insertion/deletion polymorphism in the G protein-coupled receptor 50 with bipolar disorder in a Northern Swedish population		300207		CDC	2006												
148092		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Schizophrenia	3	3p21.3	GPX1	49369612	49370795			16413612				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Psychiatry Res    2006	Genetic association analysis of the glutathione peroxidase (GPX1) gene polymorphism (Pro197Leu) with tardive dyskinesia		138320		CDC	2006	can be drawn.											
148093		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795			16424062				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		138320		CDC	2006												
148095		catalase activity	METABOLIC	MET		3	3p21.3	GPX1	49369612	49370795			16538174				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Caucasian;Asian		CDC GDP info	2876	Hs.76686			Pharmacogenet Genomics    2006    16(4)    279-86	Genotype-activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and catalase in humans		138320		CDC	2006	Interindividual variability of antioxidant enzyme activity in healthy young adults was partially explained by significant associations with three known genetic polymorphisms, and was further modified by gender and ethnicity.											
148096		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795			16543247				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		138320		CDC	2006												
148097		DNA damage	OTHER	OTH	DNA Damage	3	3p21.3	GPX1	49369612	49370795		Ketelslegers, H. B.  et al. 2006	16614101				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Caucasian		CDC GDP info	2876	Hs.76686			Cancer Epidemiol Biomarkers Prev    2006    15(4)    624-9	Interindividual variations in DNA adduct levels assessed by analysis of multiple genetic polymorphisms in smokers		138320		CDC	2006			smoking (tobacco)									
148098		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Lee, C. H.  et al. 2006	16615267				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Korea	CDC GDP info	2876	Hs.76686			J Prev Med Pub Health    2006    39(2)    130-4	Effects of oxidative DNA damage and genetic polymorphism of the glutathione peroxidase 1 (GPX1) and 8-oxoguanine glycosylase 1 (hOGG1) on lung cancer		138320		CDC	2006	These results lead to a 											
148099		lung cancer	CANCER	CAN	Lung Neoplasms	3	3p21.3	GPX1	49369612	49370795		Raaschou-Nielsen, O.  et al. 2006	16797832				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Cancer Lett    2006	GPX1 Pro198Leu polymorphism, interactions with smoking and alcohol consumption, and risk for lung cancer		138320		CDC	2006			alcohol smoking (tobacco)									
148100		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	3	3p21.3	GPX1	49369612	49370795		Oestergaard, M. Z.  et al. 2006	16868544				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		138320		CDC	2006												
148102		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	3	3p21.3	GPX1	49369612	49370795		Lightfoot, T. J.  et al. 2006	16956821				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Haematologica    2006    91(9)    1222-7	Polymorphisms in the oxidative stress genes, superoxide dismutase, glutathione peroxidase and catalase and risk of non-Hodgkin's lymphoma		138320		CDC	2006	Analysis of genetic variation in oxidative stress genes in two lymphoma case-control studies suggests a possible role for oxidative stress in the risk of NHL. The risk modification is seen predominantly for marginal zone lymphomas which frequently arise in the context of chronic inflammation. However, in order to clarify the role of oxidative stress in the e											
148103		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Lan, Q.  et al. 2006	17149600				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		138320		CDC	2006												
148104		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Oguri, M.  et al. 2007	17275003				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Atherosclerosis    2007	Genetic risk for restenosis after coronary stenting		138320		CDC	2007	Determination of the genotypes for BCHE, GPX1, and ROS1 may prove informative for assessment of the genetic risk for in-stent restenosis.											
148105	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p21.3	GPX1	49369612	49370795		Yamada, Y.  et al. 2007	17334644				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2		Japan	CDC GDP info	2876	Hs.76686			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		138320		CDC	2007												
148107	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Choi, J. Y.  et al. 2007	17548672				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1115-20	Polymorphisms in oxidative stress-related genes are not associated with prostate cancer risk in heavy smokers		138320		CDC	2007	it does not seem that variants in MnSOD, CAT, or GPX1 have an influence on prostate cancer risk in this cohort of men who were smokers or exposed to asbestos, although it is possible that cumulative defects in protection from oxidative stress may result in increased risk of the disease.											
148108		Barrett's esophagus esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	14	14q24.1	GPX2	64475624	64479284		Murphy, S.  et al. 2007	17277236				Glutathione peroxidase 2 (gastrointestinal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BE512691			CDC GDP info	2877	Hs.2704			Carcinogenesis    2007	A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma		138319		CDC	2007												
148110		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19p13.3	GPX4	1054935	1057787			16424062				Glutathione peroxidase 4 (phospholipid hydroperoxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002085.3			CDC GDP info	2879	Hs.433951			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		138322		CDC	2006												
148111		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	19	19p13.3	GPX4	1054935	1057787		Oestergaard, M. Z.  et al. 2006	16868544				Glutathione peroxidase 4 (phospholipid hydroperoxidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002085.3			CDC GDP info	2879	Hs.433951			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		138322		CDC	2006												
148112	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12	GRB7	35147712	35157064		Benusiglio, P. R.  et al. 2006	17117180				Growth factor receptor-bound protein 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005310			CDC GDP info	2886	Hs.86859			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		601522		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
148113		cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	13	13q13.1	GREAT	31211678	31275009		Yamazawa, K.  et al. 2006	17028442				relaxin/insulin-like family peptide receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AF403384			CDC GDP info	122042	Hs.680763			Horm Res    2006    67(2)    73-76	Mutation and Polymorphism Analyses of INSL3 and LGR8/GREAT in 62 Japanese Patients with Cryptorchidism		606655		CDC	2006	The results, in conjunction with the previous data, suggest that mutations of INSL3 and LGR8/GREAT remain rare, and that the Thr/Thr genotype of Ala60Thr polymorphism in INSL3 may constitute a susceptibility factor for the development of CO.											
148115		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10q22	GRID1	87349291	88116230		Guo, S. Z.  et al. 2007	17490860				Glutamate receptor, ionotropic, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017551.1			CDC GDP info	2894	Hs.530653			Schizophr Res    2007	A Case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population		610659		CDC	2007												
148116		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	6	6q16.3-q21	GRIK2	101953674	102623474		Metzger, S.  et al. 2006	16847693				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2	European		CDC GDP info	2898	Hs.98262			Hum Genet    2006	Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease		138244		CDC	2006												
148117		autism	PSYCH	PSY	Autistic Disorder	6	6q16.3-q21	GRIK2	101953674	102623474		Kim, S. A.  et al. 2007	17428563				Glutamate receptor, ionotropic, kainate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021956.2	Korean		CDC GDP info	2898	Hs.98262			Neurosci Res    2007	Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios		138244		CDC	2007												
148119		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		9	9q34.3	GRIN1	139153429	139183029		Comings, D. E.  et al. 2000	11140838				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDP info	2902	Hs.558334			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		138249		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
148120		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Zhao, X.  et al. 2006	16476413				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDP info	2902	Hs.558334			Biol Psychiatry    2006	Significant Association Between the Genetic Variations in the 5' End of the N-Methyl-D-Aspartate Receptor Subunit Gene GRIN1 and Schizophrenia		138249		CDC	2006	Our results provide support for the hypothesis that NMDA receptors are an important factor in schizophrenia.											
148121	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	9	9q34.3	GRIN1	139153429	139183029		Georgi, A.  et al. 2006	16969270				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832	German		CDC GDP info	2902	Hs.558334			Psychiatr Genet    2006    16(5)    183-184	No association between genetic variants at the GRIN1 gene and bipolar disorder in a German sample		138249		CDC	2006												
148122		bipolar disorder	PSYCH	PSY		9	9q34.3	GRIN1	139153429	139183029		Liu, M.  et al. 2007	17284422				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDP info	2902	Hs.558334			Yi Chuan    2007    29(1)    41-6	An association study between GRIN1, BDNF genes and bipolar disorder		138249		CDC	2007												
148124	Y	schizophrenia	PSYCH	PSY	Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Tang, J.  et al. 2006	17011703			promoter	Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2		China	CDC GDP info	2903	Hs.567280			Neurosci Lett    2006	Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-d-aspartate receptor subunit gene (GRIN2A) and schizophrenia		138253		CDC	2006												
148125		Huntington's disease	NEUROLOGICAL	NEUR		16	16p13.2	GRIN2A	9762922	10184112		Arning, L.  et al. 2007	17569088				Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDP info	2903	Hs.567280			Hum Genet    2007	NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner		138253		CDC	2007	female HD patients homozygous for the CC genotype tended to have later AO compared to the other two genotypes.		menopause									
148126		bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Martucci, L.  et al. 2006	16549338				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDP info	2904	Hs.445066			Schizophr Res    2006	N-methyl-d-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder		138252		CDC	2006												
148128		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	12	12p12	GRIN2B	13605410	14024319		Kim, J. H.  et al. 2006	16911840				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2	Korean	Korea	CDC GDP info	2904	Hs.445066			Neurosci Res    2006	Association study of polymorphisms in N-methyl-d-aspartate receptor 2B subunits (GRIN2B) gene with Korean alcoholism		138252		CDC	2006												
148129	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	12	12p12	GRIN2B	13605410	14024319		Dorval, K. M.  et al. 2006	17010153				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDP info	2904	Hs.445066			Genes Brain Behav    2006	Association of the glutamate receptor subunit gene GRIN2B with attention-deficit/hyperactivity disorder		138252		CDC	2006												
148130		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12p12	GRIN2B	13605410	14024319		Li, D.  et al. 2007	17224684				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDP info	2904	Hs.445066			Genet Med    2007    9(1)    4-8	Association study between the NMDA receptor 2B subunit gene (GRIN2B) and schizophrenia		138252		CDC	2007												
148132		prefrontal cortex activity	NEUROLOGICAL	NEUR		9	9q31.1	GRIN3A	103371455	103540683		Gallinat, J.  et al. 2007	17214563				Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB075853			CDC GDP info	116443	Hs.654783			J Cogn Neurosci    2007    19(1)    59-68	Genetic Variations of the NR3A Subunit of the NMDA Receptor Modulate Prefrontal Cerebral Activity in Humans				CDC	2007	It was shown for the first time that the genetic constitution of the subunit composition of NMDA receptor regulation might be relevant for prefrontal information processing in humans.											
148133	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	12	12q14.3	GRIP1	65029065	65359020		Tsai, S. J.  et al. 2007	17303296				Glutamate receptor interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_001133925			CDC GDP info	23426	Hs.505946			Prog Neuropsychopharmacol Biol Psychiatry    2007	No association of GRIP1 gene polymorphisms with schizophrenia in Chinese population				CDC	2007	demonstrated that neither single marker nor haplotype analysis revealed an association between variants at the GRIP1 locus and schizophrenia, suggesting that it is unlikely that the GRIP1 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia.											
148134	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		4	4p16.3	GRK4	2935140	2938375		Zhu, H.  et al. 2006	16461192	R65L			G protein-coupled receptor kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182982.2			CDC GDP info	2868	Hs.32959			Am J Hypertens    2006    19(1)    61-6	The G protein-coupled receptor kinase 4 gene affects blood pressure in young normotensive twins		137026		CDC	2006	Our data indicate that the R65L polymorphism of the GRK4 gene plays a role in BP regulation in adolescents and young adults.											
148136		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	GRK4	2935140	2938375		Wang, Y.  et al. 2006	17044852				G protein-coupled receptor kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182982.2		China	CDC GDP info	2868	Hs.32959			Ann Hum Genet    2006    70(Pt 6)    778-83	Association study of g protein-coupled receptor kinase 4 gene variants with essential hypertension in northern han chinese		137026		CDC	2006												
148137		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Recurrence	10	10q24-qter	GRK5	120957186	121205121		Arawaka, S.  et al. 2006	16957079				G protein-coupled receptor kinase 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097099			CDC GDP info	2869	Hs.524625			J Neurosci    2006    26(36)    9227-38	The role of G-protein-coupled receptor kinase 5 in pathogenesis of sporadic Parkinson's disease		600870		CDC	2006												
148138		melanoma	CANCER	CAN	Melanoma|Genetic Predisposition to Disease	6	6q24	GRM1	146390610	146800427		Ortiz, P.  et al. 2007	17609672				Glutamate receptor, metabotropic 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000838	European		CDC GDP info	2911	Hs.32945			Eur J Hum Genet    2007	Genetic analysis of the GRM1 gene in human melanoma susceptibility		604473		CDC	2007			radiation, ultraviolet									
148140	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Tochigi, M.  et al. 2006	16904291				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2		Japan	CDC GDP info	2913	Hs.590575			Schizophr Res    2006	No association between the metabotropic glutamate receptor type 3 gene (GRM3) and schizophrenia in a Japanese population		601115		CDC	2006												
148141		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Nicodemus, K. K.  et al. 2006	17006672				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2	German		CDC GDP info	2913	Hs.590575			Hum Genet    2006	Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1		601115		CDC	2006												
148142		frontal lobe disorder	NEUROLOGICAL	NEUR	Dementia|Amyotrophic Lateral Sclerosis	17	17q21.32	GRN	39778016	39785996		Gass, J. et. Al  et al. 2006	16950801				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			Hum Mol Genet    2006	Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration		138945		CDC	2006												
148143		frontotemporal lobar degeneration	NEUROLOGICAL	NEUR	Dementia	17	17q21.32	GRN	39778016	39785996		Bronner, I. F.  et al. 2007	17228326				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			Eur J Hum Genet    2007    15(3)    369-74	Progranulin mutations in Dutch familial frontotemporal lobar degeneration		138945		CDC	2007												
148144		frontal lobe disorder	NEUROLOGICAL	NEUR	Dementia|Atrophy	17	17q21.32	GRN	39778016	39785996		Josephs, K. A.  et al. 2007	17278999				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			J Neuropathol Exp Neurol    2007    66(2)    142-151	Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions With Progranulin Gene (PGRN) Mutations		138945		CDC	2007												
148145	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Dementia|Amyotrophic Lateral Sclerosis	17	17q21.32	GRN	39778016	39785996		Schymick, J.  et al. 2007	17371905				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			J Neurol Neurosurg Psychiatry    2007	Progranulin mutations and ALS or ALS-FTD phenotypes		138945		CDC	2007	PGRN mutations are not a common cause of ALS phenotypes.											
148146		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR		17	17q21.32	GRN	39778016	39785996		Xiao, S.  et al. 2007	17383054				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			Neurobiol Aging    2007	Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis		138945		CDC	2007												
148147		dementia, frontotemporal	PSYCH	PSY	Dementia	17	17q21.32	GRN	39778016	39785996		Le Ber, I.  et al. 2007	17436289				Granulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002087			CDC GDP info	2896	Hs.514220			Hum Mutat    2007	Progranulin null mutations in both sporadic and familial frontotemporal dementia		138945		CDC	2007												
148148		bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	3	3q13.3	GSK3B	121028235	121295203		Szczepankiewicz, A.  et al. 2006	16397405				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Neuropsychobiology    2006    53(1)    51-6	Association analysis of the GSK-3beta T-50C gene polymorphism with schizophrenia and bipolar disorder		605004		CDC	2006	this polymorphism may be associated with female gender in bipolar II disorder.											
148149	Y	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	3	3q13.3	GSK3B	121028235	121295203			16428884				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2		Spain	CDC GDP info	2932	Hs.445733			Dement Geriatr Cogn Disord    2006    21(4)    228-232	Association between Glycogen Synthase Kinase-3beta Genetic Polymorphism and Late-Onset Alzheimer's Disease		605004		CDC	2006												
148151		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Michelon, L.  et al. 2006	16787706				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Neurosci Lett    2006	Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder		605004		CDC	2006			lithium									
148152		bipolar disorder	PHARMACOGENOMIC	PHARM	Recurrence|Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Szczepankiewicz, A.  et al. 2006	16861141				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			World J Biol Psychiatry    2006    7(3)    158-61	Association study of the glycogen synthase kinase-3beta gene polymorphism with prophylactic lithium response in bipolar patients		605004		CDC	2006			lithium									
148153	N	stomach cancer	CANCER	CAN	Stomach Neoplasms	3	3q13.3	GSK3B	121028235	121295203		Zheng, H.  et al. 2006	17160944				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    647-51	Correlation between gene polymorphisms of Wnt signalling pathway related components and risk of gastric carcinoma		605004		CDC	2006	The above results suggest that the genotypes and alleles of rs3755557 site do not contribute to the risk of gastric carcinoma.											
148154		methamphetamine abuse schizophrenia	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Schizophrenia	3	3q13.3	GSK3B	121028235	121295203		Ikeda, M.  et al. 2007	17233643				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Genes Brain Behav    2007    6(1)    107-12	Possible association of beta-arrestin 2 gene with methamphetamine use disorder, but not schizophrenia		605004		CDC	2007												
148156		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203		Lachman, H. M.  et al. 2007	17357145				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Am J Med Genet B Neuropsychiatr Genet    2007	Increase in GSK3beta gene copy number variation in bipolar disorder		605004		CDC	2007												
148157	Y	schizophrenia	PSYCH	PSY		3	3q13.3	GSK3B	121028235	121295203		Meng, J.  et al. 2007	17368486				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			J Psychiatr Res    2007	No significant association between the genetic polymorphisms in the GSK-3beta gene and schizophrenia in the Chinese population		605004		CDC	2007												
148158		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p21.1	GSR	30655976	30704985			16424062				Glutathione reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000637.2			CDC GDP info	2936	Hs.271510			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		138300		CDC	2006												
148159		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	8	8p21.1	GSR	30655976	30704985		Oestergaard, M. Z.  et al. 2006	16868544				Glutathione reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000637.2			CDC GDP info	2936	Hs.271510			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		138300		CDC	2006												
148160		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	20	20q11.2	GSS	32979896	33007262		Morahan, J. M.  et al. 2007	17503480				Glutathione synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC007927			CDC GDP info	2937	Hs.82327			Am J Med Genet B Neuropsychiatr Genet    2007	Genetic susceptibility to environmental toxicants in ALS		601002		CDC	2007												
148161		methylmercury retention	PHARMACOGENOMIC	PHARM		6	6p12.1	GSTA1	52764346	52776616		Custodio, H. M.  et al. 2004	16599007				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		138359		CDC	2004												
148162		breast cancer	CANCER	CAN	Breast Neoplasms	6	6p12.1	GSTA1	52764346	52776616		Ahn, J.  et al. 2006	16624829				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Carcinogenesis    2006	Effects of glutathione S-transferase A1 (GSTA1) genotype and potential modifiers on breast cancer risk		138359		CDC	2006			diet smoking (tobacco)									
148163		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Liver Neoplasms	6	6p12.1	GSTA1	52764346	52776616		Romero, R. Z.  et al. 2006	16865249				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Oncol Rep    2006    16(3)    497-503	Potential application of GSTT1-null genotype in predicting toxicity associated to 5-fluouracil irinotecan and leucovorin regimen in advanced stage colorectal cancer patients		138359		CDC	2006												
148164		glutathione S-transferase	CANCER	CAN	Colorectal Neoplasms	6	6p12.1	GSTA1	52764346	52776616		Tijhuis, M. J.  et al. 2006	17071629				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Carcinogenesis    2006	Glutathione S-transferase phenotypes in relation to genetic variation and fruit and vegetable consumption in an endoscopy-based population		138359		CDC	2006	this study indicates that the GST enzyme system is influenced by both GST polymorphisms and consumption of fruits and vegetables.											
148165			NORMALVARIATION	NV		6	6p12.1	GSTA1	52764346	52776616		Pan, S. X.  et al. 2006	17086718				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2		China	CDC GDP info	2938	Hs.446309			Wei Sheng Yan Jiu    2006    35(5)    618-21	Study on the genetic polymorphisms of human glutathione-S-transferase A1 in Hakka population in South China		138359		CDC	2006	The GSTA1 gene existed polymorphism among Hakka in South China.											
148166		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		6	6p12.1	GSTA1	52764346	52776616		Jonsson, L. S.  et al. 2007	17333241				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		138359		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
148169		lung cancer	CANCER	CAN	Lung Neoplasms	6	6p12.1	GSTA2	52723139	52736283		Gemignani, F.  et al. 2007	17259654				Glutathione S-transferase A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000846.3			CDC GDP info	2939	Hs.94107			Carcinogenesis    2007	Development of lung cancer before the age of 50		138360		CDC	2007												
148170	N	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA2	52723139	52736283		Landi, S.  et al. 2007	17290392				Glutathione S-transferase A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000846.3			CDC GDP info	2939	Hs.94107			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		138360		CDC	2007			asbestos									
148171	N	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	6	6p12.1	GSTA4	52950709	52968099		Landi, S.  et al. 2007	17290392				Glutathione S-transferase A4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001512.2			CDC GDP info	2941	Hs.485557			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		605450		CDC	2007			asbestos									
148172	P		NORMALVARIATION	NV		1	1p13.3	GSTM1	110031964	110037890		Hamajima, N.  et al. 2002	12718576				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	2944	Hs.301961			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		138350		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
148173		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890			16459354				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Moscow		CDC GDP info	2944	Hs.301961			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		138350		CDC	2006												
148175		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Kellen, E.  et al. 2007	16504378				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Lett    2007    245(1-2)    51-60	Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk		138350		CDC	2007			aromatic amines smoking (tobacco)									
148176	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Ye, Z.  et al. 2006	16509765				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	European		CDC GDP info	2944	Hs.301961			PLoS Med    2006    3(4)    e91	Five Glutathione S-Transferase Gene Variants in 23,452 Cases of Lung Cancer and 30,397 Controls		138350		CDC	2006	The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GSTP1 gene or with GSTM3 intron 6 polymorphism.											
148177	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890			16520888				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		138350		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
148179	N	diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1	1	1p13.3	GSTM1	110031964	110037890		Chistiakov, D. A.  et al. 2006	16523188			promoter	Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Russian		CDC GDP info	2944	Hs.301961			Diabetes Metab    2006    32(1)    63-8	The 262T>C promoter polymorphism of the catalase gene is associated with diabetic neuropathy in type 1 diabetic Russian patients		138350		CDC	2006	These data suggest a protective role of the -262T allele of the CAT gene against the rapid development of DN in T1D (Odds Ratio = 0.7 [95% confidence interval 0.54-0.9], P = 0.002).											
148180		DNA damage	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890			16535827				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Wei Sheng Yan Jiu    2005    34(6)    655-7	Study on the relationship between DNA damage and polymorphisms of metabolizing enzymes of vinyl chloride monomer-exposed workers		138350		CDC	2005	Cumulative exposure dose and polymorphism of metabolizing enzymes may modulate the DNA damage of VCM-exposed workers. possessing the CYP2E1 c1c2 and c2c2 genotypes (OR 4.92, 95% CI 1.35-13.85 and OR 2.57, 95% CI 1.01-6.59).		vinyl-chloride									
148182	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Bendjemana, K.  et al. 2006	16567317				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Tunisian		CDC GDP info	2944	Hs.301961			Bull Cancer    2006    93(3)    297-302	Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma		138350		CDC	2006	the increase of nasopharyngeal carcinoma risk in Tunisia seems to be associated with GSTM10/0 and NAT2*6/6 genotype.											
148183		methylmercury retention	PHARMACOGENOMIC	PHARM		1	1p13.3	GSTM1	110031964	110037890		Custodio, H. M.  et al. 2004	16599007				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		138350		CDC	2004												
148184		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	1	1p13.3	GSTM1	110031964	110037890			16610629				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Klin Lab Diagn    2006    2    23-4, 33-4	Genetic polymorphism of glutathione-S-transferase M1 and T1 in children with acute lymphoblastic leukemia		138350		CDC	2006												
148185		DNA damage	OTHER	OTH	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Ketelslegers, H. B.  et al. 2006	16614101				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2006    15(4)    624-9	Interindividual variations in DNA adduct levels assessed by analysis of multiple genetic polymorphisms in smokers		138350		CDC	2006			smoking (tobacco)									
148186	N	DNA damage	OTHER	OTH	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Liu, Y. J.  et al. 2006	16614106				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		138350		CDC	2006			pesticide exposure									
148187		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Tobacco Use Disorder	1	1p13.3	GSTM1	110031964	110037890		Nock, N. L.  et al. 2006	16614120				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2006    15(4)    756-61	Polymorphisms in polycyclic aromatic hydrocarbon metabolism and conjugation genes, interactions with smoking and prostate cancer risk		138350		CDC	2006			smoking (tobacco)									
148188	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Hong, S. H.  et al. 2006	16615268				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Japanese;Chinese;Korean	Far East	CDC GDP info	2944	Hs.301961			J Prev Med Pub Health    2006    39(2)    135-40	Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and N-acetyltransferase 2 polymorphisms and the risk of gastric cancer		138350		CDC	2006	These results suggest that the hometown and socio-economic status are important environmental factors for gastric carcinogenesis, and NAT2 polymorphic types could be associated with familial gastric carcinoma.		alcohol family history Helicobacter pylori smoking (tobacco)									
148189		myelodysplastic syndrome	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Yang, L.  et al. 2005	16620556				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Zhonghua Xue Ye Xue Za Zhi    2005    26(11)    674-7	Investigation of GSTT1, GSTM1 and NQO1 genes polymorphisms in myelodysplastic syndromes		138350		CDC	2005	Determination of the GSTM1 and GSTT1 genotypes may be used as a stratification marker to predicate high-risk individuals for MDS.											
148190	N	colorectal cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Fan, C. H.  et al. 2006	16620591				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(1)    13-7	Association between genetic polymorphisms of metabolic enzymes and susceptibility of colorectal cancer		138350		CDC	2006	This study suggests that CYP1A1 and UGT1A7 variants might be associated with colorectal cancer.											
148192		malignant mesothelioma	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Neri, M.  et al. 2006	16697254				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Finnish;Italian		CDC GDP info	2944	Hs.301961			Int J Hyg Environ Health    2006    209(4)    393-8	Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk		138350		CDC	2006												
148193		ovarian cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Morari, E. C.  et al. 2006	16710704				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Cancer Res Clin Oncol    2006	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		138350		CDC	2006			chemotherapy									
148194		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Yang, J.  et al. 2006	16720291				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		China	CDC GDP info	2944	Hs.301961			Front Biosci    2006    11    2052-60	Polymorphisms of metabolic enzyme genes, living habits and prostate cancer susceptibility		138350		CDC	2006			alcohol drinking behavior sexual history smoking (tobacco) tea toxicant									
148196	N	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		1	1p13.3	GSTM1	110031964	110037890		Tran, A.  et al. 2006	16765145				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		138350		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
148197			NORMALVARIATION	NV		1	1p13.3	GSTM1	110031964	110037890		Bosch, T. M.  et al. 2006	16771603				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDP info	2944	Hs.301961			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		138350		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
148198	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Susceptibility	1	1p13.3	GSTM1	110031964	110037890		Morari, E. C.  et al. 2006	16788846				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Cancer Res Clin Oncol    2006    132(8)    521-8	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		138350		CDC	2006	We were unable to demonstrate any association between the GST genotypes studied and the risk of ovarian cancer but the inheritance of a heterozygous Arg/Pro genotype of p53 increased the risk of ovarian cancer more than 2.5 times (OR = 2.571; 95% CI = 1.453-4.550). There was no association of the studied genes to any clinical or pathological feature of the patients or to their response to chemotherapy.											
148199		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Probst-Hensch, N. M.  et al. 2006	16829689				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Singapore	Singapore	CDC GDP info	2944	Hs.301961			Carcinogenesis    2006	The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study		138350		CDC	2006												
148200	N	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Abnet, C. C.  et al. 2006	16864595				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Brazil	CDC GDP info	2944	Hs.301961			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		138350		CDC	2006												
148201		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Liver Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Romero, R. Z.  et al. 2006	16865249				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Oncol Rep    2006    16(3)    497-503	Potential application of GSTT1-null genotype in predicting toxicity associated to 5-fluouracil irinotecan and leucovorin regimen in advanced stage colorectal cancer patients		138350		CDC	2006												
148203		limb deficiency defects	DEVELOPMENTAL	DEV	Limb Deformities, Congenital	1	1p13.3	GSTM1	110031964	110037890		Carmichael, S. L.  et al. 2006	16906563				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Am J Med Genet A    2006	Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake		138350		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
148204	Y	oxidative stress	METABOLIC	MET	Autistic Disorder	1	1p13.3	GSTM1	110031964	110037890		James, S. J.  et al. 2006	16917939				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Am J Med Genet B Neuropsychiatr Genet    2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism		138350		CDC	2006												
148205	Y	coke-oven toxicity	METABOLIC	MET	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Chen, Y.  et al. 2006	16985033				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1703-7	Association of Polymorphisms in AhR, CYP1A1, GSTM1, and GSTT1 Genes with Levels of DNA Damage in Peripheral Blood Lymphocytes among Coke-Oven Workers		138350		CDC	2006												
148207		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kezic, S.  et al. 2006	17022435				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		138350		CDC	2006												
148209		phenanthrene metabolite ratios, urinary	METABOLIC	MET	Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Hecht, S. S.  et al. 2006	17035385				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1805-11	Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers		138350		CDC	2006												
148210		glutathione S-transferase	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Tijhuis, M. J.  et al. 2006	17071629				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Carcinogenesis    2006	Glutathione S-transferase phenotypes in relation to genetic variation and fruit and vegetable consumption in an endoscopy-based population		138350		CDC	2006	this study indicates that the GST enzyme system is influenced by both GST polymorphisms and consumption of fruits and vegetables.											
148212		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Lira, M. G.  et al. 2006	17083362				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Exp Dermatol    2006    15(12)    958-65	Glutathione S-transferase and CYP1A1 gene polymorphisms and non-melanoma skin cancer risk in Italian transplanted patients		138350		CDC	2006												
148213	Y	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	1	1p13.3	GSTM1	110031964	110037890		Barragan, E.  et al. 2006	17118447				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		138350		CDC	2006			chemotherapy									
148214		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	1	1p13.3	GSTM1	110031964	110037890		Wan, J. X.  et al. 2006	17119198				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Ann N Y Acad Sci    2006    1076    129-36	Genetic polymorphism of toxicant-metabolizing enzymes and prognosis of chinese workers with chronic benzene poisoning		138350		CDC	2006												
148215		DNA adducts	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Jiao, L.  et al. 2006	17158087				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		138350		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
148217	N	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Goloni-Bertollo, E. M.  et al. 2006	17160315				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Rev Assoc Med Bras    2006    52(5)    365-8	Evaluation of the influence of GSTT1 AND GSTM1 null genotypes in head and neck carcinogenesis.		138350		CDC	2006	In our study, it was impossible to establish the influence of the GSTT1 and GSTM1 null genotypes in head and neck carcinogenesis.											
148218		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Zusterzeel, P. L.  et al. 2006	17167268				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Gynecol Obstet Invest    2006    63(4)    209-213	Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes		138350		CDC	2006	Women withthe simultaneous occurrence of two or more genetic polymorphisms in the above-mentioned biotransformation enzymes, most probably resulting in a disturbed detoxification capacity, may be at increased risk for pre-eclampsia.											
148220		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Chen, Y.  et al. 2007	17178637				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Xenobiotica    2007    37(1)    103-12	Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations		138350		CDC	2007												
148221	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1|Lymphoma|Liver Diseases|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Imanishi, H.  et al. 2006	17180579				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Hum Genet    2006	Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma		138350		CDC	2006	GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate.											
148222	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Yeh, C. C.  et al. 2006	17191090				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		138350		CDC	2006												
148223		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM1	110031964	110037890		Wahner, A. D.  et al. 2006	17194543				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDP info	2944	Hs.301961			Neurosci Lett    2006	Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease		138350		CDC	2006	were similar when combining all races.		smoking (tobacco)									
148224	P		NORMALVARIATION	NV		1	1p13.3	GSTM1	110031964	110037890		Bailliet, G.  et al. 2006	17194620				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian;Indian;Native American;Asian	Argentina|Paraguay	CDC GDP info	2944	Hs.301961			Mutat Res    2006	Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay		138350		CDC	2006												
148225	Y	azathioprine adverse effects	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	1	1p13.3	GSTM1	110031964	110037890		Stocco, G.  et al. 2007	17206640				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Inflamm Bowel Dis    2007    13(1)    57-64	Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease		138350		CDC	2007	Patients with IBD with a wildtype GST-M1 genotype present increased probability of developing adverse effects and increased incidence of lymphopenia during azathioprine treatment.											
148227	N	arsenic toxicity	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Arsenic Poisoning	1	1p13.3	GSTM1	110031964	110037890		Mc Carty, K. M.  et al. 2007	17284320				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		India	CDC GDP info	2944	Hs.301961			Environ Health    2007    6(1)    5	A case-control study of GST polymorphisms and arsenic related skin lesions		138350		CDC	2007	GSTT1 wildtype and GSTP1 GG are associated with increased risk of skin lesions.											
148228		chemical-related sensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	1	1p13.3	GSTM1	110031964	110037890		Schnakenberg, E.  et al. 2007	17291352				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Environ Health    2007    6(1)    6	A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug metabolizing enzymes		138350		CDC	2007	The results from our study population show that individuals being slow acetylators and/or harbouring a homozygous GSTM1 and/or GSTT1 deletion reported chemical-related hypersensitivity more frequently.											
148229		multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	1	1p13.3	GSTM1	110031964	110037890		Schilthuizen, C.  et al. 2007	17296590				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		138350		CDC	2007			chemotherapy									
148231		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Jonsson, L. S.  et al. 2007	17333241				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		138350		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
148232	Y	bladder cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Cengiz, M.  et al. 2007	17340208				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Int Urol Nephrol    2007	The investigation of GSTT1, GSTM1 and SOD polymorphism in bladder cancer patients		138350		CDC	2007												
148234		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Jeannot, E.  et al. 2007	17363580				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		138350		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
148236	N	brain cancer	CANCER	CAN	Brain Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Schwartzbaum, J. A.  et al. 2007	17372252				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		Finland|England|Denmark|Sweden	CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		138350		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
148237		isothiocyanates	PHARMACOGENOMIC	PHARM		1	1p13.3	GSTM1	110031964	110037890		Steck, S. E.  et al. 2007	17374652				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Nutr    2007    137(4)    904-909	GSTM1, GSTT1, GSTP1, and GSTA1 Polymorphisms and Urinary Isothiocyanate Metabolites following Broccoli Consumption in Humans		138350		CDC	2007												
148238	Y	liver injury, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Drug Toxicity|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Huang, Y. S.  et al. 2007	17400324	SOD2 mutant C allele			Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Hepatol    2007	Genetic polymorphisms of manganese superoxide dismutase, NAD(P)H		138350		CDC	2007	The MnSOD mutant C allele may increase the susceptibility to DILI, and GSTM1 null genotype may be related to anti-tuberculosis drug-induced hepatotoxicity. Determination of the MnSOD and GSTM1 genotypes may help identify patients at high risk for DILI.											
148239		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Ruzzo, A.  et al. 2007	17401013				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		138350		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
148240		PAH-DNA adducts	METABOLIC	MET	DNA Damage	1	1p13.3	GSTM1	110031964	110037890		Garte, S.  et al. 2007	17403528				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	European		CDC GDP info	2944	Hs.301961			Mutat Res    2007	Effects of metabolic genotypes on intermediary biomarkers in subjects exposed to PAHS		138350		CDC	2007												
148242		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Spurdle, A. B.  et al. 2007	17416769				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Australian;Caucasian	Australia	CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2007    16(4)    769-74	A Systematic Approach to Analysing Gene-Gene Interactions		138350		CDC	2007	Detoxification gene polymorphisms may interact with each other to result in small groups of individuals at modestly increased risk.											
148243		2-hydroxyethyl mercapturic acid	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Haufroid, V.  et al. 2007	17416773				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2007    16(4)    796-802	Exposure to ethylene oxide in hospitals		138350		CDC	2007			ethylene oxide									
148244		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Yang, M.  et al. 2007	17428572				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Korean		CDC GDP info	2944	Hs.301961			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		138350		CDC	2007												
148245		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Dick, F.  et al. 2007	17449559				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	European		CDC GDP info	2944	Hs.301961			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		138350		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
148248	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Nakajima, M.  et al. 2007	17502835				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		138350		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
148249		skin cancer, non-melanoma	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Leite, J. L.  et al. 2007	17505575				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Brazilian		CDC GDP info	2944	Hs.301961			Rev Med Chil    2007    135(3)    301-306	Influence of the glutathione s-transferase gene polymorphisms on the susceptibility to basal cell skin carcinoma		138350		CDC	2007	The GST profile may help identify Brazilian individuals at higher risk for BCC.											
148250		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Cunningham, J. M.  et al. 2007	17507624				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		138350		CDC	2007												
148252		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Povey, A. C.  et al. 2007	17536768				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Biomarkers    2007    12(2)    188-202	GST CYP and PON1 polymorphisms in farmers attributing ill health to organophosphate-containing sheep dip		138350		CDC	2007			diazinon									
148253	N	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Nock, N. L.  et al. 2007	17548691				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	African American;Caucasian		CDC GDP info	2944	Hs.301961			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		138350		CDC	2007			smoking (tobacco)									
148254	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Fan, C.  et al. 2007	17603900				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		138350		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)									
148255		head and neck cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Boccia, S.  et al. 2007	17611777				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		138350		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
148257		kidney cancer	CANCER	CAN		1	1p13.3	GSTM1	110031964	110037890		Moore, L.  et al. 2007	17617661				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Czech Republic, Poland, Romania, and Russia		CDC GDP info	2944	Hs.301961			Carcinogenesis    2007	Glutathione S-transferase polymorphisms, cruciferous vegetable intake, and cancer risk in the Central and Eastern European Kidney Cancer Study		138350		CDC	2007			diet									
148258	P		CANCER	CAN	Neoplasms	1	1p13.3	GSTM2	110000225	110019431		Yoshimura, K.  et al. 2003	14634838				Glutathione S-transferase M2 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BI911084			CDC GDP info	2946	Hs.279837			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		138380		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
148259	P		CANCER	CAN	Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Yoshimura, K.  et al. 2003	14634838				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		138390		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
148260	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Ye, Z.  et al. 2006	16509765				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	European		CDC GDP info	2947	Hs.2006			PLoS Med    2006    3(4)    e91	Five Glutathione S-Transferase Gene Variants in 23,452 Cases of Lung Cancer and 30,397 Controls		138390		CDC	2006	The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GSTP1 gene or with GSTM3 intron 6 polymorphism.											
148262		gallbladder cancer	CANCER	CAN	Gallbladder Neoplasms|Gallstones|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Pandey, S. N.  et al. 2006	16760134				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3		India	CDC GDP info	2947	Hs.2006			Biomarkers    2006    11(3)    250-61	Genetic polymorphisms in GSTM1, GSTT1, GSTP1, GSTM3 and the susceptibility to gallbladder cancer in North India		138390		CDC	2006			gallstones									
148264		colorectal cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Martinez, C.  et al. 2006	16886896				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Pharmacogenomics    2006    7(5)    711-718	Glutathione S-transferases mu1, theta1, pi1, alpha1 and mu3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans		138390		CDC	2006	This study indicates that GST polymorphisms, in particular the GSTM1/GSTT1 double-null haplotype, can be considered low-penetrance genes for gastrointestinal cancer.		smoking (tobacco)									
148265		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p13.3	GSTM3	110078076	110084656		De Roos, A. J.  et al. 2006	16985026				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	non-Hispanic		CDC GDP info	2947	Hs.2006			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		138390		CDC	2006												
148266		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM3	110078076	110084656		Golbe, L. I.  et al. 2006	17034008				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Greek;Italian		CDC GDP info	2947	Hs.2006			Am J Med Genet B Neuropsychiatr Genet    2006	Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease		138390		CDC	2006												
148267		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Lira, M. G.  et al. 2006	17083362				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Exp Dermatol    2006    15(12)    958-65	Glutathione S-transferase and CYP1A1 gene polymorphisms and non-melanoma skin cancer risk in Italian transplanted patients		138390		CDC	2006												
148268		lung cancer	CANCER	CAN	Lung Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Gemignani, F.  et al. 2007	17259654				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Carcinogenesis    2007	Development of lung cancer before the age of 50		138390		CDC	2007												
148270	N	brain cancer	CANCER	CAN	Brain Neoplasms	1	1p13.3	GSTM3	110078076	110084656		Schwartzbaum, J. A.  et al. 2007	17372252				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3		Finland|England|Denmark|Sweden	CDC GDP info	2947	Hs.2006			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		138390		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
148271		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Dick, F.  et al. 2007	17449559				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	European		CDC GDP info	2947	Hs.2006			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		138390		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
148272		kidney cancer	CANCER	CAN		1	1p13.3	GSTM3	110078076	110084656		Moore, L.  et al. 2007	17617661				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3	Czech Republic, Poland, Romania, and Russia		CDC GDP info	2947	Hs.2006			Carcinogenesis    2007	Glutathione S-transferase polymorphisms, cruciferous vegetable intake, and cancer risk in the Central and Eastern European Kidney Cancer Study		138390		CDC	2007			diet									
148274		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q25.1	GSTO1	106004667	106017203		Wahner, A. D.  et al. 2006	17194543				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1	Caucasian		CDC GDP info	9446	Hs.190028			Neurosci Lett    2006	Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease		605482		CDC	2006	were similar when combining all races.		smoking (tobacco)									
148275	N	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Engstrom, K. S.  et al. 2007	17450230				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDP info	9446	Hs.190028			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism		605482		CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
148277		skin lesions, arsenic-induced	PHARMACOGENOMIC	PHARM	Precancerous Conditions|Arsenic Poisoning|Skin Diseases|Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Ahsan, H.  et al. 2007	17548696				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDP info	9446	Hs.190028			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1270-8	Arsenic metabolism, genetic susceptibility, and risk of premalignant skin lesions in bangladesh		605482		CDC	2007			arsenic									
148278		ovarian cancer	CANCER	CAN		10	10q25.1	GSTO2	106018620	106049166		Morari, E. C.  et al. 2006	16710704				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDP info	119391	Hs.203634			J Cancer Res Clin Oncol    2006	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients				CDC	2006			chemotherapy									
148280	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Susceptibility	10	10q25.1	GSTO2	106018620	106049166		Morari, E. C.  et al. 2006	16788846				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDP info	119391	Hs.203634			J Cancer Res Clin Oncol    2006    132(8)    521-8	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients				CDC	2006	We were unable to demonstrate any association between the GST genotypes studied and the risk of ovarian cancer but the inheritance of a heterozygous Arg/Pro genotype of p53 increased the risk of ovarian cancer more than 2.5 times (OR = 2.571; 95% CI = 1.453-4.550). There was no association of the studied genes to any clinical or pathological feature of the patients or to their response to chemotherapy.											
148281		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	10	10q25.1	GSTO2	106018620	106049166		Wahner, A. D.  et al. 2006	17194543				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1	Caucasian		CDC GDP info	119391	Hs.203634			Neurosci Lett    2006	Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease				CDC	2006	were similar when combining all races.		smoking (tobacco)									
148282		skin cancer, non-melanoma	CANCER	CAN		10	10q25.1	GSTO2	106018620	106049166		Leite, J. L.  et al. 2007	17505575				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1	Brazilian		CDC GDP info	119391	Hs.203634			Rev Med Chil    2007    135(3)    301-306	Influence of the glutathione s-transferase gene polymorphisms on the susceptibility to basal cell skin carcinoma				CDC	2007	The GST profile may help identify Brazilian individuals at higher risk for BCC.											
148283	P		NORMALVARIATION	NV		11	11q13	GSTP1	67107861	67110699		Hamajima, N.  et al. 2002	12718576				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	2950	Hs.523836			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		134660		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
148285	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699			16425401				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			World J Gastroenterol    2005    11(43)    6875-9	Polymorphisms in sulfotransferase 1A1 and glutathione S-transferase P1 genes in relation to colorectal cancer risk and patients' survival		134660		CDC	2005	Polymorphism in SULT1A1 may predispose to colorectal cancer and GSTP1 may be a biological indicator of prognosis in the patients.											
148286		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699			16459354				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Moscow		CDC GDP info	2950	Hs.523836			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		134660		CDC	2006												
148287	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Ye, Z.  et al. 2006	16509765				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	European		CDC GDP info	2950	Hs.523836			PLoS Med    2006    3(4)    e91	Five Glutathione S-Transferase Gene Variants in 23,452 Cases of Lung Cancer and 30,397 Controls		134660		CDC	2006	The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GSTP1 gene or with GSTM3 intron 6 polymorphism.											
148288		methylmercury retention	PHARMACOGENOMIC	PHARM		11	11q13	GSTP1	67107861	67110699		Custodio, H. M.  et al. 2004	16599007				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		134660		CDC	2004												
148289	Y	DNA damage	OTHER	OTH	DNA Damage	11	11q13	GSTP1	67107861	67110699		Liu, Y. J.  et al. 2006	16614106				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		134660		CDC	2006			pesticide exposure									
148292		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	11	11q13	GSTP1	67107861	67110699		Ruzzo, A.  et al. 2006	16622263				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		134660		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
148293		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Onay, V. U.  et al. 2006	16672066				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		134660		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
148294		ovarian cancer	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Morari, E. C.  et al. 2006	16710704				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Cancer Res Clin Oncol    2006	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		134660		CDC	2006			chemotherapy									
148295		gallbladder cancer	CANCER	CAN	Gallbladder Neoplasms|Gallstones|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Pandey, S. N.  et al. 2006	16760134				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		India	CDC GDP info	2950	Hs.523836			Biomarkers    2006    11(3)    250-61	Genetic polymorphisms in GSTM1, GSTT1, GSTP1, GSTM3 and the susceptibility to gallbladder cancer in North India		134660		CDC	2006			gallstones									
148296	Y	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		11	11q13	GSTP1	67107861	67110699		Tran, A.  et al. 2006	16765145	GSTP1*A/*B and 3435TT			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		134660		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
148297			NORMALVARIATION	NV		11	11q13	GSTP1	67107861	67110699		Bosch, T. M.  et al. 2006	16771603				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		CDC GDP info	2950	Hs.523836			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		134660		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
148298	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Susceptibility	11	11q13	GSTP1	67107861	67110699		Morari, E. C.  et al. 2006	16788846				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Cancer Res Clin Oncol    2006    132(8)    521-8	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		134660		CDC	2006	We were unable to demonstrate any association between the GST genotypes studied and the risk of ovarian cancer but the inheritance of a heterozygous Arg/Pro genotype of p53 increased the risk of ovarian cancer more than 2.5 times (OR = 2.571; 95% CI = 1.453-4.550). There was no association of the studied genes to any clinical or pathological feature of the patients or to their response to chemotherapy.											
148299		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Probst-Hensch, N. M.  et al. 2006	16829689				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Singapore	Singapore	CDC GDP info	2950	Hs.523836			Carcinogenesis    2006	The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study		134660		CDC	2006												
148300		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Liver Neoplasms	11	11q13	GSTP1	67107861	67110699		Romero, R. Z.  et al. 2006	16865249				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Oncol Rep    2006    16(3)    497-503	Potential application of GSTT1-null genotype in predicting toxicity associated to 5-fluouracil irinotecan and leucovorin regimen in advanced stage colorectal cancer patients		134660		CDC	2006												
148302		colorectal cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms	11	11q13	GSTP1	67107861	67110699		Martinez, C.  et al. 2006	16886896				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Pharmacogenomics    2006    7(5)    711-718	Glutathione S-transferases mu1, theta1, pi1, alpha1 and mu3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans		134660		CDC	2006	This study indicates that GST polymorphisms, in particular the GSTM1/GSTT1 double-null haplotype, can be considered low-penetrance genes for gastrointestinal cancer.		smoking (tobacco)									
148303		high-altitude tolerance	OTHER	OTH	Altitude Sickness	11	11q13	GSTP1	67107861	67110699		Rajput, C.  et al. 2006	16893516				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		134660		CDC	2006												
148304		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	11	11q13	GSTP1	67107861	67110699		De Roos, A. J.  et al. 2006	16985026				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	non-Hispanic		CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		134660		CDC	2006												
148306		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Kezic, S.  et al. 2006	17022435				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		134660		CDC	2006												
148307		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q13	GSTP1	67107861	67110699		Golbe, L. I.  et al. 2006	17034008				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Greek;Italian		CDC GDP info	2950	Hs.523836			Am J Med Genet B Neuropsychiatr Genet    2006	Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease		134660		CDC	2006												
148308		phenanthrene metabolite ratios, urinary	METABOLIC	MET	Lung Neoplasms	11	11q13	GSTP1	67107861	67110699		Hecht, S. S.  et al. 2006	17035385				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1805-11	Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers		134660		CDC	2006												
148309		glutathione S-transferase	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Tijhuis, M. J.  et al. 2006	17071629				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Carcinogenesis    2006	Glutathione S-transferase phenotypes in relation to genetic variation and fruit and vegetable consumption in an endoscopy-based population		134660		CDC	2006	this study indicates that the GST enzyme system is influenced by both GST polymorphisms and consumption of fruits and vegetables.											
148310		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Lira, M. G.  et al. 2006	17083362				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Exp Dermatol    2006    15(12)    958-65	Glutathione S-transferase and CYP1A1 gene polymorphisms and non-melanoma skin cancer risk in Italian transplanted patients		134660		CDC	2006												
148311			NORMALVARIATION	NV		11	11q13	GSTP1	67107861	67110699		Lu, Y.  et al. 2006	17113562				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Chinese;Caucasian;Indian;Singapore		CDC GDP info	2950	Hs.523836			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		134660		CDC	2006												
148314		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Bufalo, N. E.  et al. 2006	17158763				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Endocr Relat Cancer    2006    13(4)    1185-93	Smoking and susceptibility to thyroid cancer		134660		CDC	2006			smoking (tobacco)									
148315	Y	asbestosis or pleural plaques	OTHER	OTH	Asbestosis|Occupational Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Horska, A.  et al. 2006	17159790				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Neuro Endocrinol Lett    2006    27(Suppl2)    100-103	Genetic predisposition and health effect of occupational exposure to asbestos		134660		CDC	2006	Our results suggest that GSTP1*105Val allele and low EPHX1 activity genotype may be protective for people occupationally exposed to asbestos. However, more extensive studies are needed to confirm our results.											
148316		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Zusterzeel, P. L.  et al. 2006	17167268				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Gynecol Obstet Invest    2006    63(4)    209-213	Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes		134660		CDC	2006	Women withthe simultaneous occurrence of two or more genetic polymorphisms in the above-mentioned biotransformation enzymes, most probably resulting in a disturbed detoxification capacity, may be at increased risk for pre-eclampsia.											
148318	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Yeh, C. C.  et al. 2006	17191090				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		134660		CDC	2006												
148319		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11q13	GSTP1	67107861	67110699		Wahner, A. D.  et al. 2006	17194543				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		CDC GDP info	2950	Hs.523836			Neurosci Lett    2006	Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease		134660		CDC	2006	were similar when combining all races.		smoking (tobacco)									
148320		azathioprine adverse effects	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	11	11q13	GSTP1	67107861	67110699		Stocco, G.  et al. 2007	17206640				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Inflamm Bowel Dis    2007    13(1)    57-64	Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease		134660		CDC	2007	Patients with IBD with a wildtype GST-M1 genotype present increased probability of developing adverse effects and increased incidence of lymphopenia during azathioprine treatment.											
148321		Barrett's esophagus esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	11	11q13	GSTP1	67107861	67110699		Murphy, S.  et al. 2007	17277236				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Carcinogenesis    2007	A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma		134660		CDC	2007												
148323	N	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Landi, S.  et al. 2007	17290392				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		134660		CDC	2007			asbestos									
148324		chemical-related sensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	11	11q13	GSTP1	67107861	67110699		Schnakenberg, E.  et al. 2007	17291352				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Environ Health    2007    6(1)    6	A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug metabolizing enzymes		134660		CDC	2007	The results from our study population show that individuals being slow acetylators and/or harbouring a homozygous GSTM1 and/or GSTT1 deletion reported chemical-related hypersensitivity more frequently.											
148326	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Nordgard, S. H.  et al. 2007	17301692				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		CDC GDP info	2950	Hs.523836			Pharmacogenet Genomics    2007    17(2)    127-136	ABCB1 and GST polymorphisms associated with TP53 status in breast cancer		134660		CDC	2007	An association between polymorphisms in GSTP1 and ABCB1 and risk of acquiring intratumoral TP53 mutations suggests the existence of putative predisposing genotype backgrounds.											
148327		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		11	11q13	GSTP1	67107861	67110699		Jonsson, L. S.  et al. 2007	17333241				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		134660		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
148328		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Jeannot, E.  et al. 2007	17363580				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		134660		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
148329		chronic obstructive pulmonary disease/COPD emphysema	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Emphysema	11	11q13	GSTP1	67107861	67110699		Demeo, D. L.  et al. 2007	17363767				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Am J Respir Crit Care Med    2007	Genetic Determinants of Emphysema Distribution in the National Emphysema Treatment Trial		134660		CDC	2007	Apical and basal emphysematous destruction appears to be influenced by different genes.											
148330	P		NORMALVARIATION	NV		11	11q13	GSTP1	67107861	67110699		Ada, A. O.  et al. 2007	17365145				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian;European;Turkish		CDC GDP info	2950	Hs.523836			Int J Toxicol    2007    26(1)    41-6	Polymorphisms of Microsomal Epoxide Hydrolase and Glutathione S-transferase P1 in a Male Turkish Population		134660		CDC	2007												
148331		stomach cancer	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Zhang, Y.  et al. 2007	17369149				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Yi Chuan    2007    29(3)    293-300	A molecular epidemiological study on the relationship between the polymorphism of GSTP1 and susceptibility to gastric cancer in northern Chinese.		134660		CDC	2007			Helicobacter pylori									
148334		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	11	11q13	GSTP1	67107861	67110699		Ruzzo, A.  et al. 2007	17401013				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		134660		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
148335		PAH-DNA adducts	METABOLIC	MET	DNA Damage	11	11q13	GSTP1	67107861	67110699		Garte, S.  et al. 2007	17403528				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	European		CDC GDP info	2950	Hs.523836			Mutat Res    2007	Effects of metabolic genotypes on intermediary biomarkers in subjects exposed to PAHS		134660		CDC	2007												
148336		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	11	11q13	GSTP1	67107861	67110699		Pillot, G. A.  et al. 2006	17409981				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		134660		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
148337		PAH-DNA adducts	METABOLIC	MET		11	11q13	GSTP1	67107861	67110699		Binkova, B.  et al. 2007	17412371				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		134660		CDC	2007												
148338		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Spurdle, A. B.  et al. 2007	17416769				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Australian;Caucasian	Australia	CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2007    16(4)    769-74	A Systematic Approach to Analysing Gene-Gene Interactions		134660		CDC	2007	Detoxification gene polymorphisms may interact with each other to result in small groups of individuals at modestly increased risk.											
148339		2-hydroxyethyl mercapturic acid	METABOLIC	MET		11	11q13	GSTP1	67107861	67110699		Haufroid, V.  et al. 2007	17416773				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2007    16(4)    796-802	Exposure to ethylene oxide in hospitals		134660		CDC	2007			ethylene oxide									
148341		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Yang, M.  et al. 2007	17428572				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Korean		CDC GDP info	2950	Hs.523836			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		134660		CDC	2007												
148342		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Dick, F.  et al. 2007	17449559				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	European		CDC GDP info	2950	Hs.523836			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		134660		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
148343	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	11	11q13	GSTP1	67107861	67110699		Guillem, V. M.  et al. 2007	17476281				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		134660		CDC	2007												
148344	Y	1-hydroxypyrene, urinary	METABOLIC	MET		11	11q13	GSTP1	67107861	67110699		Chen, B.  et al. 2007	17498780				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		134660		CDC	2007												
148345	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	11	11q13	GSTP1	67107861	67110699		Nakajima, M.  et al. 2007	17502835				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		134660		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
148347		prostate cancer	CANCER	CAN	Prostatic Neoplasms	11	11q13	GSTP1	67107861	67110699		Cunningham, J. M.  et al. 2007	17507624				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		134660		CDC	2007												
148348		multiple myeloma	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Maggini, V.  et al. 2007	17512053				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Leuk Res    2007	Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms		134660		CDC	2007			chemotherapy									
148349	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Vibhuti, A.  et al. 2007	17532303	105V/114V alleles of GSTP1			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Biochem Biophys Res Commun    2007	Genetic polymorphisms of GSTP1 and mEPHX correlate with oxidative stress markers and lung function in COPD		134660		CDC	2007	105V/114V alleles of GSTP1 and 113H/139H alleles of mEPHX and the combination of genotypes with same alleles associated with imbalanced oxidative stress and lung function in patients, signifying the importance in the disease.											
148351	N	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	11	11q13	GSTP1	67107861	67110699		Nock, N. L.  et al. 2007	17548691				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	African American;Caucasian		CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		134660		CDC	2007			smoking (tobacco)									
148352		pancreatic disease pancreatitis, chronic	OTHER	OTH	Pancreatitis, Alcoholic	11	11q13	GSTP1	67107861	67110699		Osterreicher, C. H.  et al. 2007	17548864				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Mutagenesis    2007	Genetic polymorphisms of manganese-superoxide dismutase and glutathione-S-transferase in chronic alcoholic pancreatitis		134660		CDC	2007												
148353		esophageal cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Esophageal Neoplasms	11	11q13	GSTP1	67107861	67110699		Okuno, T.  et al. 2007	17551301				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Am J Clin Oncol    2007    30(3)    252-7	Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese		134660		CDC	2007	The prognostic index may allow predictions of the clinical outcome of a 5-FU/CDDP-based CRT in stage II/III ESCC patients.		5-flurouracil cisplatin physical activity radiation									
148354		breast cancer	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Justenhoven, C.  et al. 2007	17588204				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	German		CDC GDP info	2950	Hs.523836			Breast Cancer Res Treat    2007	Breast cancer		134660		CDC	2007			body mass									
148355	N	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	11	11q13	GSTP1	67107861	67110699		Ramirez, D.  et al. 2007	17608547				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cleft Palate Craniofac J    2007    44(4)    366-73	Maternal Smoking During Early Pregnancy, GSTP1 and EPHX1 Variants, and Risk of Isolated Orofacial Clefts		134660		CDC	2007	Our results suggest that genetic variation of the detoxification enzymes EPHX1 and GSTP1 did not increase the risks of orofacial clefting, nor do they influence the risks associated with maternal smoking.		smoking (tobacco), maternal									
148357		kidney cancer	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Moore, L.  et al. 2007	17617661				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Czech Republic, Poland, Romania, and Russia		CDC GDP info	2950	Hs.523836			Carcinogenesis    2007	Glutathione S-transferase polymorphisms, cruciferous vegetable intake, and cancer risk in the Central and Eastern European Kidney Cancer Study		134660		CDC	2007			diet									
148358	P		NORMALVARIATION	NV		22	22q11.23	GSTT1	22706140	22714231		Hamajima, N.  et al. 2002	12718576				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese;Chinese;Caucasian;Korean		CDC GDP info	2952	Hs.268573			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		600436		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
148359		1-hydroxypyrene	CANCER	CAN	Lymphoma	22	22q11.23	GSTT1	22706140	22714231		Cocco, P.  et al. 2007	16406813				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Ann Epidemiol    2007    17(1)    1-8	Effect of urban traffic, individual habits, and genetic polymorphisms on background urinary 1-hydroxypyrene excretion		600436		CDC	2007	Our study shows that exposure to urban traffic, dietary habits, and the nonnull GSTT1 genotype may contribute to interindividual variation in background levels of 1-OHP urinary excretion in subjects without occupational exposure to PAHs.		polycyclic aromatic hydrocarbons									
148360		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231			16459354				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Moscow		CDC GDP info	2952	Hs.268573			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		600436		CDC	2006												
148361	N	colorectal cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Chen, K.  et al. 2005	16471212				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		600436		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
148363		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	22	22q11.23	GSTT1	22706140	22714231		Monzo, M.  et al. 2006	16507781				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	French		CDC GDP info	2952	Hs.268573			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		600436		CDC	2006			chemotherapy									
148364	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ye, Z.  et al. 2006	16509765				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	European		CDC GDP info	2952	Hs.268573			PLoS Med    2006    3(4)    e91	Five Glutathione S-Transferase Gene Variants in 23,452 Cases of Lung Cancer and 30,397 Controls		600436		CDC	2006	The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GSTP1 gene or with GSTM3 intron 6 polymorphism.											
148365	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231			16520888				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		600436		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
148367	N	diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1	22	22q11.23	GSTT1	22706140	22714231		Chistiakov, D. A.  et al. 2006	16523188			promoter	Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Russian		CDC GDP info	2952	Hs.268573			Diabetes Metab    2006    32(1)    63-8	The 262T>C promoter polymorphism of the catalase gene is associated with diabetic neuropathy in type 1 diabetic Russian patients		600436		CDC	2006	These data suggest a protective role of the -262T allele of the CAT gene against the rapid development of DN in T1D (Odds Ratio = 0.7 [95% confidence interval 0.54-0.9], P = 0.002).											
148368		DNA damage	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231			16535827				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Wei Sheng Yan Jiu    2005    34(6)    655-7	Study on the relationship between DNA damage and polymorphisms of metabolizing enzymes of vinyl chloride monomer-exposed workers		600436		CDC	2005	Cumulative exposure dose and polymorphism of metabolizing enzymes may modulate the DNA damage of VCM-exposed workers. possessing the CYP2E1 c1c2 and c2c2 genotypes (OR 4.92, 95% CI 1.35-13.85 and OR 2.57, 95% CI 1.01-6.59).		vinyl-chloride									
148370	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Bendjemana, K.  et al. 2006	16567317				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Tunisian		CDC GDP info	2952	Hs.268573			Bull Cancer    2006    93(3)    297-302	Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma		600436		CDC	2006	the increase of nasopharyngeal carcinoma risk in Tunisia seems to be associated with GSTM10/0 and NAT2*6/6 genotype.											
148371		methylmercury retention	PHARMACOGENOMIC	PHARM		22	22q11.23	GSTT1	22706140	22714231		Custodio, H. M.  et al. 2004	16599007				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		600436		CDC	2004												
148372		leukemia, lymphoid	CANCER	CAN	Leukemia, Lymphocytic, Acute, L1	22	22q11.23	GSTT1	22706140	22714231			16610629				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Klin Lab Diagn    2006    2    23-4, 33-4	Genetic polymorphism of glutathione-S-transferase M1 and T1 in children with acute lymphoblastic leukemia		600436		CDC	2006												
148374		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Tobacco Use Disorder	22	22q11.23	GSTT1	22706140	22714231		Nock, N. L.  et al. 2006	16614120				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian		CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2006    15(4)    756-61	Polymorphisms in polycyclic aromatic hydrocarbon metabolism and conjugation genes, interactions with smoking and prostate cancer risk		600436		CDC	2006			smoking (tobacco)									
148375	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Hong, S. H.  et al. 2006	16615268				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Japanese;Chinese;Korean	Far East	CDC GDP info	2952	Hs.268573			J Prev Med Pub Health    2006    39(2)    135-40	Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and N-acetyltransferase 2 polymorphisms and the risk of gastric cancer		600436		CDC	2006	These results suggest that the hometown and socio-economic status are important environmental factors for gastric carcinogenesis, and NAT2 polymorphic types could be associated with familial gastric carcinoma.		alcohol family history Helicobacter pylori smoking (tobacco)									
148376		myelodysplastic syndrome	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Yang, L.  et al. 2005	16620556				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Zhonghua Xue Ye Xue Za Zhi    2005    26(11)    674-7	Investigation of GSTT1, GSTM1 and NQO1 genes polymorphisms in myelodysplastic syndromes		600436		CDC	2005	Determination of the GSTM1 and GSTT1 genotypes may be used as a stratification marker to predicate high-risk individuals for MDS.											
148378		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Ruzzo, A.  et al. 2006	16622263				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		600436		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
148379		malignant mesothelioma	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Neri, M.  et al. 2006	16697254				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Finnish;Italian		CDC GDP info	2952	Hs.268573			Int J Hyg Environ Health    2006    209(4)    393-8	Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk		600436		CDC	2006												
148380		ovarian cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Morari, E. C.  et al. 2006	16710704				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Cancer Res Clin Oncol    2006	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		600436		CDC	2006			chemotherapy									
148382		gallbladder cancer	CANCER	CAN	Gallbladder Neoplasms|Gallstones|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Pandey, S. N.  et al. 2006	16760134				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		India	CDC GDP info	2952	Hs.268573			Biomarkers    2006    11(3)    250-61	Genetic polymorphisms in GSTM1, GSTT1, GSTP1, GSTM3 and the susceptibility to gallbladder cancer in North India		600436		CDC	2006			gallstones									
148383	N	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		22	22q11.23	GSTT1	22706140	22714231		Tran, A.  et al. 2006	16765145				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		600436		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
148384			NORMALVARIATION	NV		22	22q11.23	GSTT1	22706140	22714231		Bosch, T. M.  et al. 2006	16771603				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian		CDC GDP info	2952	Hs.268573			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		600436		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
148385	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Susceptibility	22	22q11.23	GSTT1	22706140	22714231		Morari, E. C.  et al. 2006	16788846				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Cancer Res Clin Oncol    2006    132(8)    521-8	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		600436		CDC	2006	We were unable to demonstrate any association between the GST genotypes studied and the risk of ovarian cancer but the inheritance of a heterozygous Arg/Pro genotype of p53 increased the risk of ovarian cancer more than 2.5 times (OR = 2.571; 95% CI = 1.453-4.550). There was no association of the studied genes to any clinical or pathological feature of the patients or to their response to chemotherapy.											
148386		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Probst-Hensch, N. M.  et al. 2006	16829689				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Singapore	Singapore	CDC GDP info	2952	Hs.268573			Carcinogenesis    2006	The effect of the cyclin D1 (CCND1) A870G polymorphism on colorectal cancer risk is modified by glutathione-S-transferase polymorphisms and isothiocyanate intake in the Singapore Chinese Health Study		600436		CDC	2006												
148387	N	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Abnet, C. C.  et al. 2006	16864595				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Brazil	CDC GDP info	2952	Hs.268573			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		600436		CDC	2006												
148388	Y	chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Liver Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Romero, R. Z.  et al. 2006	16865249				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Oncol Rep    2006    16(3)    497-503	Potential application of GSTT1-null genotype in predicting toxicity associated to 5-fluouracil irinotecan and leucovorin regimen in advanced stage colorectal cancer patients		600436		CDC	2006												
148389	Y	colorectal cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Martinez, C.  et al. 2006	16886896				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Pharmacogenomics    2006    7(5)    711-718	Glutathione S-transferases mu1, theta1, pi1, alpha1 and mu3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans		600436		CDC	2006	This study indicates that GST polymorphisms, in particular the GSTM1/GSTT1 double-null haplotype, can be considered low-penetrance genes for gastrointestinal cancer.		smoking (tobacco)									
148391	Y	coke-oven toxicity	METABOLIC	MET	DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Chen, Y.  et al. 2006	16985033				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1703-7	Association of Polymorphisms in AhR, CYP1A1, GSTM1, and GSTT1 Genes with Levels of DNA Damage in Peripheral Blood Lymphocytes among Coke-Oven Workers		600436		CDC	2006												
148392		Elers-Danlose syndrome	OTHER	OTH	Ehlers-danlos Syndrome	22	22q11.23	GSTT1	22706140	22714231			17020091				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Radiats Biol Radioecol    2006    46(4)    424-8	Genetic polymorphism of glutathione-S-transferases and inhibition of DNA repair		600436		CDC	2006												
148393		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Kezic, S.  et al. 2006	17022435				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		600436		CDC	2006												
148395		glutathione S-transferase	CANCER	CAN	Colorectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Tijhuis, M. J.  et al. 2006	17071629				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Carcinogenesis    2006	Glutathione S-transferase phenotypes in relation to genetic variation and fruit and vegetable consumption in an endoscopy-based population		600436		CDC	2006	this study indicates that the GST enzyme system is influenced by both GST polymorphisms and consumption of fruits and vegetables.											
148396		melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Mossner, R.  et al. 2006	17072629				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Arch Dermatol Res    2006	Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma		600436		CDC	2006												
148397		cytogenetic studies	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Laczmanska, I.  et al. 2006	17078101				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		600436		CDC	2006												
148399	Y	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	22	22q11.23	GSTT1	22706140	22714231		Barragan, E.  et al. 2006	17118447				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		600436		CDC	2006			chemotherapy									
148400		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	22	22q11.23	GSTT1	22706140	22714231		Wan, J. X.  et al. 2006	17119198				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Ann N Y Acad Sci    2006    1076    129-36	Genetic polymorphism of toxicant-metabolizing enzymes and prognosis of chinese workers with chronic benzene poisoning		600436		CDC	2006												
148401		DNA adducts	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Jiao, L.  et al. 2006	17158087				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		600436		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
148402		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Bufalo, N. E.  et al. 2006	17158763				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Endocr Relat Cancer    2006    13(4)    1185-93	Smoking and susceptibility to thyroid cancer		600436		CDC	2006			smoking (tobacco)									
148404		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Agudo, A. et.al.  et al. 2006	17164366				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	European	Europe	CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2427-34	Polymorphisms in metabolic genes related to tobacco smoke and the risk of gastric cancer in the European prospective investigation into cancer and nutrition		600436		CDC	2006			smoking (tobacco)									
148405		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Zusterzeel, P. L.  et al. 2006	17167268				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Gynecol Obstet Invest    2006    63(4)    209-213	Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes		600436		CDC	2006	Women withthe simultaneous occurrence of two or more genetic polymorphisms in the above-mentioned biotransformation enzymes, most probably resulting in a disturbed detoxification capacity, may be at increased risk for pre-eclampsia.											
148406		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Chen, Y.  et al. 2007	17178637				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Xenobiotica    2007    37(1)    103-12	Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations		600436		CDC	2007												
148407		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1|Lymphoma|Liver Diseases|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Imanishi, H.  et al. 2006	17180579				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Hum Genet    2006	Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma		600436		CDC	2006	GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate.											
148408	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Yeh, C. C.  et al. 2006	17191090				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		600436		CDC	2006												
148409		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.23	GSTT1	22706140	22714231		Wahner, A. D.  et al. 2006	17194543				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian		CDC GDP info	2952	Hs.268573			Neurosci Lett    2006	Glutathione S-transferase mu, omega, pi, and theta class variants and smoking in Parkinson's disease		600436		CDC	2006	were similar when combining all races.		smoking (tobacco)									
148411		azathioprine adverse effects	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	22	22q11.23	GSTT1	22706140	22714231		Stocco, G.  et al. 2007	17206640				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Inflamm Bowel Dis    2007    13(1)    57-64	Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease		600436		CDC	2007	Patients with IBD with a wildtype GST-M1 genotype present increased probability of developing adverse effects and increased incidence of lymphopenia during azathioprine treatment.											
148412	Y	arsenic toxicity	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Arsenic Poisoning	22	22q11.23	GSTT1	22706140	22714231		Mc Carty, K. M.  et al. 2007	17284320				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		India	CDC GDP info	2952	Hs.268573			Environ Health    2007    6(1)    5	A case-control study of GST polymorphisms and arsenic related skin lesions		600436		CDC	2007	GSTT1 wildtype and GSTP1 GG are associated with increased risk of skin lesions.											
148414		chemical-related sensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	22	22q11.23	GSTT1	22706140	22714231		Schnakenberg, E.  et al. 2007	17291352				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Environ Health    2007    6(1)    6	A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug metabolizing enzymes		600436		CDC	2007	The results from our study population show that individuals being slow acetylators and/or harbouring a homozygous GSTM1 and/or GSTT1 deletion reported chemical-related hypersensitivity more frequently.											
148415	N	multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	22	22q11.23	GSTT1	22706140	22714231		Schilthuizen, C.  et al. 2007	17296590				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		600436		CDC	2007			chemotherapy									
148417		2-thiothiazolidine-4-carboxylic acid levels	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Jonsson, L. S.  et al. 2007	17333241				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Int Arch Occup Environ Health    2007	Levels of 2-thiothiazolidine-4-carboxylic acid (TTCA) and effect modification of polymorphisms of glutathione-related genes in vulcanization workers in the southern Sweden rubber industries		600436		CDC	2007	The present study demonstrates relatively high levels of TTCA in urine from Swedish rubber workers.		carbon disulfide									
148418	N	bladder cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Cengiz, M.  et al. 2007	17340208				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Int Urol Nephrol    2007	The investigation of GSTT1, GSTM1 and SOD polymorphism in bladder cancer patients		600436		CDC	2007												
148419		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Gonzalez, A.  et al. 2004	17361553				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Rev Biol Trop    2004    52(3)    591-600	Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility		600436		CDC	2004												
148421		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Bolufer, P.  et al. 2007	17367411				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		600436		CDC	2007												
148422	N	brain cancer	CANCER	CAN	Brain Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Schwartzbaum, J. A.  et al. 2007	17372252				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		Finland|England|Denmark|Sweden	CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		600436		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
148423		isothiocyanates	PHARMACOGENOMIC	PHARM		22	22q11.23	GSTT1	22706140	22714231		Steck, S. E.  et al. 2007	17374652				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Nutr    2007    137(4)    904-909	GSTM1, GSTT1, GSTP1, and GSTA1 Polymorphisms and Urinary Isothiocyanate Metabolites following Broccoli Consumption in Humans		600436		CDC	2007												
148424	N	liver injury, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Drug Toxicity|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Huang, Y. S.  et al. 2007	17400324				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Hepatol    2007	Genetic polymorphisms of manganese superoxide dismutase, NAD(P)H		600436		CDC	2007	The MnSOD mutant C allele may increase the susceptibility to DILI, and GSTM1 null genotype may be related to anti-tuberculosis drug-induced hepatotoxicity. Determination of the MnSOD and GSTM1 genotypes may help identify patients at high risk for DILI.											
148426		PAH-DNA adducts	METABOLIC	MET	DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Garte, S.  et al. 2007	17403528				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	European		CDC GDP info	2952	Hs.268573			Mutat Res    2007	Effects of metabolic genotypes on intermediary biomarkers in subjects exposed to PAHS		600436		CDC	2007												
148427		PAH-DNA adducts	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Binkova, B.  et al. 2007	17412371				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		600436		CDC	2007												
148428		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Spurdle, A. B.  et al. 2007	17416769				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Australian;Caucasian	Australia	CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2007    16(4)    769-74	A Systematic Approach to Analysing Gene-Gene Interactions		600436		CDC	2007	Detoxification gene polymorphisms may interact with each other to result in small groups of individuals at modestly increased risk.											
148429		2-hydroxyethyl mercapturic acid	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Haufroid, V.  et al. 2007	17416773				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2007    16(4)    796-802	Exposure to ethylene oxide in hospitals		600436		CDC	2007			ethylene oxide									
148430		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Yang, M.  et al. 2007	17428572				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Korean		CDC GDP info	2952	Hs.268573			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		600436		CDC	2007												
148431		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Dick, F.  et al. 2007	17449559				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	European		CDC GDP info	2952	Hs.268573			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		600436		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
148432	Y	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Engstrom, K. S.  et al. 2007	17450230				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism		600436		CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
148433	Y	1-hydroxypyrene, urinary	METABOLIC	MET		22	22q11.23	GSTT1	22706140	22714231		Chen, B.  et al. 2007	17498780				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		600436		CDC	2007												
148435		skin cancer, non-melanoma	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Leite, J. L.  et al. 2007	17505575				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Brazilian		CDC GDP info	2952	Hs.268573			Rev Med Chil    2007    135(3)    301-306	Influence of the glutathione s-transferase gene polymorphisms on the susceptibility to basal cell skin carcinoma		600436		CDC	2007	The GST profile may help identify Brazilian individuals at higher risk for BCC.											
148436		prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Cunningham, J. M.  et al. 2007	17507624				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		600436		CDC	2007												
148438		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Povey, A. C.  et al. 2007	17536768				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Biomarkers    2007    12(2)    188-202	GST CYP and PON1 polymorphisms in farmers attributing ill health to organophosphate-containing sheep dip		600436		CDC	2007			diazinon									
148439	Y	azoospermia oligospermia	REPRODUCTION	REP	Azoospermia|Oligospermia	22	22q11.23	GSTT1	22706140	22714231		Wu, Q. F.  et al. 2007	17569254				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Zhonghua Nan Ke Xue    2007    13(5)    407-10	Genetic polymorphism of glutathione S-transferase T1 associated with idiopathic azoospermia and oligospermia		600436		CDC	2007	The null alleles of GSTTI are a strong predisposing risk factor for idiopathic azoospermia and oligospermia.											
148440	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Fan, C.  et al. 2007	17603900				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		600436		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)									
148441		head and neck cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Boccia, S.  et al. 2007	17611777				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		600436		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
148442	Y	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Ruzzo, A.  et al. 2007	17617021	GSTT1-null/positive			Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		600436		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
148444	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11.2	GSTT2	22629608	22633383		Jang, S. G.  et al. 2007	17250773			promoter	Glutathione S-transferase theta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013992	Korean		CDC GDP info	2953	Hs.1581			BMC Cancer    2007    7(1)    16	GSTT2 promoter polymorphisms and colorectal cancer risk		600437		CDC	2007	Our results collectively suggest that SNPs and haplotypes of the GSTT2 promoter region are associated with colorectal cancer risk in the Korean population.											
148445		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	14	14q24.3	GSTZ1	76857106	76867693		Golbe, L. I.  et al. 2006	17034008				Glutathione transferase zeta 1 (maleylacetoacetate isomerase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145870.1	Greek;Italian		CDC GDP info	2954	Hs.26403			Am J Med Genet B Neuropsychiatr Genet    2006	Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease		603758		CDC	2006												
148446	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	14		GTF2A1	80716146	80757474		Lee, K. A.  et al. 2007	17596959				General transcription factor IIA, 1, 19/37kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015859.2	Caucasian;Korean;Asian		CDC GDP info	2957	Hs.592334			Cytokine    2007	Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer				CDC	2007												
148447	Y	blood pressure, arterial electrolyte levels	CARDIOVASCULAR	CARD		1	1p34-p33	GUCA2B	42391678	42394082		Guo, H. F.  et al. 2007	17582287	GUCA2B  G-247A			Guanylate cyclase activator 2B (uroguanylin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007102			CDC GDP info	2981	Hs.32966			Zhonghua Xin Xue Guan Bing Za Zhi    2007    35(3)    233-6	Association between uroguanylin G-247A polymorphism and blood pressure/fluid and electrolytes homeostasis		601271		CDC	2007	The uroguanylin G-247A polymorphism was associated with urinary volume and sodium and potassium excretions.											
148448			NORMALVARIATION	NV		4	4q28.2-q31.1	GYPA	145136706	145281294		Yan, L.  et al. 2005	15783300				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3		China	CDC GDP info	2993	Hs.434973			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		111300		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
148450	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		4	4q28.2-q31.1	GYPA	145136706	145281294		Xing, C. H.  et al. 2007	17456399				Glycophorin A (includes MN blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002099.3			CDC GDP info	2993	Hs.434973			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2007    25(2)    87-90	Association of the glycophorin A gene mutation in peripheral erythrocytes and chronic benzene poisoning.		111300		CDC	2007	A decrease in WBC count and neutrophil count is found in patients with chronic benzene poisoning, which can arise from genetic damage in bone marrow stem cells, namely gene-duplicating mutations (NN) at the GPA locus in bone marrow cells of MN-heterozygous subjects, GPA-NN mutagens contributed to the pathogenesis of chronic benzene poisoning.											
148451	N	cerebral malaria	CARDIOVASCULAR	CARD	Malaria, Cerebral|Malaria, Falciparum|Genetic Predisposition to Disease	4	4q28-q31	GYPB	145136706	145281294		Naka, I.  et al. 2007	17372674				Glycophorin B (MNS blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198682	Thai		CDC GDP info	2994	Hs.654368			J Hum Genet    2007	The genotypes of GYPA and GYPB carrying the MNSs antigens are not associated with cerebral malaria		111740		CDC	2007	the MNSs antigens do not reveal the difference in susceptibility to cerebral malaria.											
148452	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	19	19q13.3	GYS1	54163193	54188361		Kokubo, Y.  et al. 2006	17137217				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			CDC GDP info	2997	Hs.386225			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		138570		CDC	2006												
148453	Y	cardiac death	CARDIOVASCULAR	CARD		19	19q13.3	GYS1	54163193	54188361		Fredriksson, J.  et al. 2007	17356695				Glycogen synthase 1 (muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002103.3			CDC GDP info	2997	Hs.386225			PLoS ONE    2007    2    e285	Variation in GYS1 Interacts with Exercise and Gender to Predict Cardiovascular Mortality		138570		CDC	2007	 Polymorphisms in GYS1 and APOE predict CV mortality in T2D families in a gender-specific fashion and independently of each other. Physical exercise seems to unmask the effect associated with the GYS1 polymorphism, rendering carriers of the variant allele less susceptible to the protective effect of exercise on the risk of CV death, which finding could be compatible with a previous demonstration of defective increase in the glycogen synthase protein in carriers of this polymorphism.											
148454		heart transplant	CARDIOVASCULAR	CARD		14	14q11.2	GZMB	24170001	24173272		Girnita, D. M.  et al. 2006	17198275				Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ052893	Hispanic Caucasian		CDC GDP info	3002	Hs.1051			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		123910		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
148455		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	11	11q23.2-q23.3	H2AFX	118469794	118471387		Novik, K. L.  et al. 2007	17548670				H2A histone family, member X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917453			CDC GDP info	3014	Hs.477879			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1098-106	Genetic Variation in H2AFX Contributes to Risk of Non-Hodgkin Lymphoma				CDC	2007												
148456	N	androgen, adrenal blood pressure, arterial body mass dementia glucose	NEUROLOGICAL	NEUR	Dementia	1	1p36	H6PD	9217449	9253981		Smit, P.  et al. 2006	17062770	TPMT*3C			Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004285.3	Caucasian		CDC GDP info	9563	Hs.463511			J Clin Endocrinol Metab    2006	Lack of Association of the 11{beta}-Hydroxysteroid Dehydrogenase Type 1 Gene 83,557insA and Hexose-6-Phosphate Dehydrogenase Gene R453Q Polymorphisms with Body Composition, Adrenal Androgen Production, Blood Pressure, Glucose Metabolism and Dementia		138090		CDC	2006	Two population-based studies among Caucasian elderly showed no evidence for (combined) effects of two polymorphisms in the HSD11B1 and H6PD genes on body composition, adrenal androgen production, blood pressure, glucose metabolism, and incidence of dementia. Moreover, the high frequencies observed for these two polymorphisms do not correspond to the low incidence of CRD observed in the general population. Altogether, it is unlikely that these polymorphisms cause CRD.											
148457		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	19	19p13.3	HMHA1	1018173	1037627		Bertinetto, F. E.  et al. 2006	16984283				HMHA1 histocompatibility (minor) HA-1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC065223			CDC GDP info	23526	Hs.465521			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		601155		CDC	2006												
148458			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	10	10q25.3	HABP2	115302774	115339348		Hoppe, B.  et al. 2006	17003923				Hyaluronan binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004132.2	German		CDC GDP info	3026	Hs.422542			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		603924		CDC	2006												
148459	N	preeclampsia	REPRODUCTION	REP	Fetal Diseases|HELLP Syndrome|Pre-Eclampsia	2	2p23	HADHA	26267007	26321098		Wang, R.  et al. 2006	17199921				Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000182.4	Chinese;Caucasian		CDC GDP info	3030	Hs.516032			Zhonghua Fu Chan Ke Za Zhi    2006    41(10)    672-5	Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant		600890		CDC	2006	The common disease-causing mutation of G1528C in MTP gene in Caucasians is probably not a common mutation in Chinese Han people in Beijing. Further study is needed to expand the sample size among HELLP syndrome and maternal liver diseases in Chinese population.											
148460	N	HELLP syndrome	OTHER	OTH	HELLP Syndrome	2	2p23	HADHA	26267007	26321098		Mutze, S.  et al. 2007	17313315				Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000182.4			CDC GDP info	3030	Hs.516032			J Perinat Med    2007    35(1)    76-8	Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome		600890		CDC	2007	Neither maternal nor fetal heterozygosity for the E474Q mutation is a relevant factor of HELLP syndrome.											
148461	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Hyperinsulinism|Genetic Predisposition to Disease	4	4q22-q26	HADHSC	109130388	109175780		van Hove, E. C.  et al. 2006	17065362				hydroxyacyl-Coenzyme A dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_005327			CDC GDP info	3033	Hs.438289			Diabetes    2006    55(11)    3193-6	The HADHSC Gene Encoding Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) and Type 2 Diabetes Susceptibility		601609		CDC	2006	it is unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts.											
148462		atherosclerosis, coronary lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	17	17q21.2-q21.3	HAP1	37132416	37144424		Luke, M. M.  et al. 2007	17569884				Huntingtin-associated protein 1 (neuroan 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209105			CDC GDP info	9001	Hs.158300			Arterioscler Thromb Vasc Biol    2007	A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease		600947		CDC	2007	The LPA I4399M SNP is associated with$$$ severe CAD and plasma lipoprotein(a) levels.											
148463	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q33.2	HAVCR1	156389014	156418548		Page, N. S.  et al. 2006	16940744				Hepatitis A virus cellular receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012206.1	Australian;Caucasian;Asian		CDC GDP info	26762	Hs.129711			Int Arch Allergy Immunol    2006    141(4)    331-336	Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis		606518		CDC	2006	In addition to confirming the importance of genetic variation in TIM-1, our results also suggest that genetic variants in the ligand for TIM-1, TIM-4, also contribute to the presentation of AD and related disorders.											
148464	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q33.2	HAVCR1	156389014	156418548		Li, J. S.  et al. 2006	17117951				Hepatitis A virus cellular receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012206.1			CDC GDP info	26762	Hs.129711			Int J Immunogenet    2006    33(6)    417-22	Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population		606518		CDC	2006												
148466		asthma	IMMUNE	IMM	Asthma	5	5q33.3	HAVCR2	156445420	156468716		Zhang, C.  et al. 2006	16456792				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3		China	CDC GDP info	84868	Hs.616365			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    74-7	Study on relationship between polymorphism sites of TIM-3 and allergic asthma in a population of adult Hans from Hubei province of China.		606652		CDC	2006	There are polymorphism sites of the promoter region in TIM-3 , and one of these sites, the -574 G/T polymorphism site, may be associated with allergic asthma in the population of adult Hans from Hubei province of China.											
148467	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q33.3	HAVCR2	156445420	156468716		Page, N. S.  et al. 2006	16940744				Hepatitis A virus cellular receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032782.3	Australian;Caucasian;Asian		CDC GDP info	84868	Hs.616365			Int Arch Allergy Immunol    2006    141(4)    331-336	Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis		606652		CDC	2006	In addition to confirming the importance of genetic variation in TIM-1, our results also suggest that genetic variants in the ligand for TIM-1, TIM-4, also contribute to the presentation of AD and related disorders.											
148468	N	HIV tuberculosis	INFECTION	INF	Tuberculosis|AIDS-Related Opportunistic Infections	3	3p21	HB1				Ukaejiofo, E. O.  et al. 2006	16722361				sodium channel, voltage-gated, type V, alpha subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_198056		Nigeria	CDC GDP info	6331	Hs.517898			West Afr J Med    2006    25(1)    61-4	Association between ABO, Rhesus blood group systems and haemoglobin genotype among confirmed HIV/AIDS-TB co-infected patients in Enugu Urban, Nigeria				CDC	2006	We conclude that HIV I & II/AIDs with TB co-infection among Nigerians so far studied appear to show no association in the distribution of ABO, Rhesus blood group and Hb-genotype prevalence. Hence they cannot be said to have either protective nor predisposing characteristics.											
148469		thalassemia	HEMATOLOGICAL	HEM	alpha-Thalassemia	16	16p13.3	HBA1	162874	167520		Sen, R.  et al. 2005	16370488				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		India	CDC GDP info	3039	Hs.449630			Hemoglobin    2005    29(4)    277-80	Alpha-thalassemia among tribal populations of Eastern India		141800		CDC	2005												
148470		thalassemia	HEMATOLOGICAL	HEM	Thalassemia	16	16p13.3	HBA1	162874	167520			16540409				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		China	CDC GDP info	3039	Hs.449630			Hemoglobin    2006    30(1)    9-14	The Prevalence and Spectrum of Thalassemia in Shenzhen, Guangdong Province, People's Republic of China		141800		CDC	2006												
148471	Y	haptoglobin	HEMATOLOGICAL	HEM	Parasitemia|Malaria|alpha-Thalassemia|Splenomegaly|Hemolysis	16	16p13.3	HBA1	162874	167520		Imrie, H.  et al. 2006	16760505				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		Papua New Guinea	CDC GDP info	3039	Hs.449630			Am J Trop Med Hyg    2006    74(6)    965-971	HAPTOGLOBIN LEVELS ARE ASSOCIATED WITH HAPTOGLOBIN GENOTYPE AND {alpha}+-THALASSEMIA IN A MALARIA-ENDEMIC AREA		141800		CDC	2006												
148472		thalassemia	HEMATOLOGICAL	HEM	alpha-Thalassemia|beta-Thalassemia|Genetic Predisposition to Disease	16	16p13.3	HBA1	162874	167520		Chong, Y. M.  et al. 2006	16898315				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3		Malaysia	CDC GDP info	3039	Hs.449630			Med J Malaysia    2006    61(2)    217-20	Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers		141800		CDC	2006												
148473		hemoglobin H disease	HEMATOLOGICAL	HEM	Parvoviridae Infections|Pregnancy Complications|Anemia, Aplastic|alpha-Thalassemia|Iron Overload	16	16p13.3	HBA1	162874	167520		Origa, R.  et al. 2006	17129226				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3	Sardinian		CDC GDP info	3039	Hs.449630			Br J Haematol    2006	Clinical and molecular analysis of haemoglobin H disease in Sardinia		141800		CDC	2006												
148474		microcytic hypochromic anemia	HEMATOLOGICAL	HEM	alpha-Thalassemia|Anemia, Hypochromic	16	16p13.3	HBA1	162874	167520		Sankar, V. H.  et al. 2006	17132905				Hemoglobin, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000558.3	Indian		CDC GDP info	3039	Hs.449630			J Appl Genet    2006    47(4)    391-395	Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India		141800		CDC	2006												
148476		malaria	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	11	11p15.5	HBB	5203271	5204877		Migot-Nabias, F.  et al. 2006	16859949				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Senegalese	Senegal	CDC GDP info	3043	Hs.523443			Microbes Infect    2006	Red blood cell polymorphisms in relation to Plasmodium falciparum asymptomatic parasite densities and morbidity in Senegal		141900		CDC	2006												
148477		fetal hemoglobin	HEMATOLOGICAL	HEM		11	11p15.5	HBB	5203271	5204877		Guida, V.  et al. 2006	16891184				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDP info	3043	Hs.523443			Haematologica    2006	Influence of (G)gamma -158 C-->T and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects		141900		CDC	2006												
148478		thalassemia	HEMATOLOGICAL	HEM	alpha-Thalassemia|beta-Thalassemia|Genetic Predisposition to Disease	11	11p15.5	HBB	5203271	5204877		Chong, Y. M.  et al. 2006	16898315				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Malaysia	CDC GDP info	3043	Hs.523443			Med J Malaysia    2006    61(2)    217-20	Screening of concurrent alpha-thalassaemia 1 in beta-thalassaemia carriers		141900		CDC	2006												
148479		thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Guida, V.  et al. 2006	16956833				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Italian	Italy	CDC GDP info	3043	Hs.523443			Haematologica    2006    91(9)    1275-6	Influence of Ggamma-158 --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects		141900		CDC	2006												
148480		sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	11	11p15.5	HBB	5203271	5204877		Silva, W. D.  et al. 2006	17096035				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Brazilian	Brazil	CDC GDP info	3043	Hs.523443			Cad Saude Publica    2006    22(12)    2561-2566	Evaluation of coverage by a neonatal screening program for hemoglobinopathies in the Reconcavo region of Bahia, Brazil.		141900		CDC	2006												
148482	P		NORMALVARIATION	NV		11	11p15.5	HBB	5203271	5204877		Jeremiah, Z. A.  et al. 2006	17140342				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDP info	3043	Hs.523443			Afr Health Sci    2006    6(3)    177-81	Abnormal haemoglobin variants, ABO and Rh blood groups among student of African descent in Port Harcourt, Nigeria		141900		CDC	2006	There is a gradual decline in the prevalence of abnormal haemoglobin variants in our black population.											
148483	Y	Buruli ulcer	OTHER	OTH	Mycobacterium Infections, Atypical|Osteomyelitis|Anemia, Sickle Cell|Hemoglobin C Disease	11	11p15.5	HBB	5203271	5204877		Nackers, F.  et al. 2007	17445142				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4		Benin	CDC GDP info	3043	Hs.523443			Trop Med Int Health    2007    12(4)    511-8	Association between haemoglobin variants S and C and Mycobacterium ulcerans disease (Buruli ulcer)		141900		CDC	2007												
148484	P		NORMALVARIATION	NV		11	11p15.5	HBB	5203271	5204877		Shimizu, K.  et al. 2006	17564253				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Japanese;Indian;Korean;Asian	Mongolia	CDC GDP info	3043	Hs.523443			Hum Biol    2006    78(6)    749-56	Beta-globin gene cluster haplotype frequencies in Khalkhs and Buryats of Mongolia		141900		CDC	2006												
148485		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|beta-Thalassemia	11	11p15.5	HBB	5203271	5204877		Hashemi, M.  et al. 2007	17612748				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4			CDC GDP info	3043	Hs.523443			Cardiovasc J S Afr    2007    18(3)    165-8	Effect of heterozygous Beta-thalassaemia trait on coronary atherosclerosis via coronary artery disease risk factors		141900		CDC	2007	The prevalence of heterozygous beta-thalassaemia in the case group was not significantly different from the control group. This case-control study did not support the hypothesis that thalassaemia minor affects the likelihood of atherosclerotic plaque formation.											
148486		fetal hemoglobin	HEMATOLOGICAL	HEM		11	11p15.5	HBG2	5226077	5623587		Guida, V.  et al. 2006	16891184				Hemoglobin, gamma G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR616680			CDC GDP info	3048	Hs.302145			Haematologica    2006	Influence of (G)gamma -158 C-->T and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects		142250		CDC	2006												
148487		thalassemia	HEMATOLOGICAL	HEM	beta-Thalassemia	11	11p15.5	HBG2	5226077	5623587		Guida, V.  et al. 2006	16956833				Hemoglobin, gamma G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR616680	Italian	Italy	CDC GDP info	3048	Hs.302145			Haematologica    2006    91(9)    1275-6	Influence of Ggamma-158 --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects		142250		CDC	2006												
148489	Y	psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		Suomela, S.  et al. 2007	17340018				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475	Finnish		CDC GDP info	54535	Hs.485075			Acta Derm Venereol    2007    87(2)    127-34	Clinical Associations of the Risk Alleles of HLA-Cw6 and CCHCR1*WWCC in Psoriasis		605310		CDC	2007												
148490		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	HCR	31218194	31233950		Reich, K.  et al. 2007	17530646				coiled-coil alpha-helical rod protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB112475			CDC GDP info	54535	Hs.485075			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		605310		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
148491	Y	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache|Genetic Predisposition to Disease	6	6p11-q11	HCRTR2	55147029	55255377		Schurks, M.  et al. 2006	16554494	HCRTR2 G1246A			Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2	German	Germany	CDC GDP info	3062	Hs.151624			Neurology    2006	Cluster headache is associated with the G1246A polymorphism in the hypocretin receptor 2 gene		602393		CDC	2006												
148493	Y	cluster headache	NEUROLOGICAL	NEUR	Cluster Headache	6	6p11-q11	HCRTR2	55147029	55255377		Rainero, I.  et al. 2007	17563843				Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2	European		CDC GDP info	3062	Hs.151624			J Headache Pain    2007	Association between the G1246A polymorphism of the hypocretin receptor 2 gene and cluster headache		602393		CDC	2007												
148495		psychiatric disorders	PSYCH	PSY		4	4p16.3	HD	3046205	3215485		Vassos, E.  et al. 2007	17610899				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6	Greek		CDC GDP info	3064	Hs.518450			J Psychiatr Res    2007	Effect of CAG repeat length on psychiatric disorders in Huntington's disease		143100		CDC	2007												
148496		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	2	2q37.3	HDAC4	239635318	239987580		Park, J. W.  et al. 2006	16415175				Histone deacetylase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006037			CDC GDP info	9759	Hs.20516			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		605314		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
148497			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	15	15q21-q22	HDC	48321437	48345218		Lee, J. K.  et al. 2003	12768436				Histidine decarboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002112	Japanese;Caucasian;Korean		CDC GDP info	3067	Hs.1481			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		142704		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
148498	Y	menopause	REPRODUCTION	REP		15	15q21-q22	HDC	48321437	48345218		Zhang, F.  et al. 2006	16919600				Histidine decarboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002112	Caucasian		CDC GDP info	3067	Hs.1481			Biochem Biophys Res Commun    2006	HDC gene polymorphisms are associated with age at natural menopause in Caucasian women		142704		CDC	2006												
148500	Y	hypopituitarism midline neurological abnormalities optic nerve hypoplasia pituitary dysfunction septooptic dysplasia	METABOLIC	MET	Hypopituitarism|Septo-Optic Dysplasia	3	3p21.2-p21.1	HESX1	57207264	57209320		McNay, D. E.  et al. 2007	17148560				Homeo box (expressed in ES cells) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003865.1			CDC GDP info	8820	Hs.171980			J Clin Endocrinol Metab    2007    92(2)    691-7	HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism		601802		CDC	2007	Mutations within HESX1 are a rare cause of SOD and hypopituitarism.											
148501		Tay-Sachs disease	METABOLIC	MET	Tay-Sachs Disease	5	5q13	HEXB	73971603	74052869			16352452				Hexosaminidase B (beta polypeptide)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000521.2	Ashkenazi;Jewish		CDC GDP info	3074	Hs.69293			Mol Genet Metab    2005	Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification		606873		CDC	2005												
148503			HEMATOLOGICAL	HEM	Hemochromatosis	6	6p21.3	HFE	26195487	26205036			16649670				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	European;Asian		CDC GDP info	3077	Hs.233325			Genetika    2006    42(3)    421-6	Analysis of the hemochromatosis gene (HFE) mutations, C282Y and H63D, in the populations of Central Asia		235200		CDC	2006												
148504	N	varicose ulcers	CARDIOVASCULAR	CARD	Varicose Ulcer	6	6p21.3	HFE	26195487	26205036		Gemmati, D.  et al. 2006	16950433				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			J Vasc Surg    2006    44(3)    554-62	Influence of gene polymorphisms in ulcer healing process after superficial venous surgery		235200		CDC	2006	The FXIII-34L variant was significantly associated with shorter healing time after superficial venous surgery, suggesting a role in the healing and tissue regeneration phases. Conversely, HFE-C282Y, despite its role in ulcer establishment, did not affect the postoperative healing time. In perspective, the identification of patients with a poor prognosis may											
148505		ferritin iron levels liver disease transferrin saturation	METABOLIC	MET	Fatty Liver|Liver Cirrhosis|Siderosis|Iron Overload|Obesity	6	6p21.3	HFE	26195487	26205036		Valenti, L.  et al. 2006	17006922				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Hepatology    2006    44(4)    857-864	alpha1-Antitrypsin mutations in NAFLD		235200		CDC	2006	AAT mutations are associated with hyperferritinemia and sinusoidal iron accumulation, but not with more severe liver damage in NAFLD.											
148506		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Iron Metabolism Disorders|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Blazquez, L.  et al. 2006	17011669				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Neurobiol Aging    2006	Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population		235200		CDC	2006												
148508		iron levels transferrin saturation	NEUROLOGICAL	NEUR	Alzheimer Disease|Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Lehmann, D. J.  et al. 2006	17047092				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			J Med Genet    2006    43(10)    e52	Iron genes, iron load and risk of Alzheimer's disease		235200		CDC	2006	These combinations may raise the risk for Alzheimer\s disease, owing to higher iron loads and therefore oxidative stress in the preclinical phase. If replicated, these findings will have implications for the prevention of Alzheimer\s disease.											
148509		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Corder, E. H.  et al. 2006	17116317				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		235200		CDC	2006												
148510	N	iron levels	METABOLIC	MET	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Iron Overload|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HFE	26195487	26205036		Sartori, M.  et al. 2006	17135308				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Gut    2006	Heterozygous {beta} -globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis c		235200		CDC	2006	Heterozygosis for beta-globin mutations is a novel risk factor for both hepatic iron accumulation and the progression to fibrosis in patients with CHC.											
148512		hepatitis C, chronic steatohepatitis	INFECTION	INF	Hepatitis C, Chronic|Fatty Liver|Hemochromatosis	6	6p21.3	HFE	26195487	26205036		Pulvirenti, D.  et al. 2006	17228846				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Clin Ter    2006    157(6)    485-8	Heterozygosis H63D in patients with steatohepatitis and chronic hepatitis C		235200		CDC	2006	Our study revealed that steatohepatitis and chronic hepatitis C cannot be worsened by heterozygosis for C282Y and H63D.											
148513		porphyria cutanea tarda	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda	6	6p21.3	HFE	26195487	26205036		Frank, J.  et al. 2007	17298224				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	German	Germany	CDC GDP info	3077	Hs.233325			Physiol Res    2007    55 Suppl 2    S75-83	Hemochromatosis gene sequence deviations in german patients with porphyria cutanea tarda		235200		CDC	2007												
148515		ferritin	HEMATOLOGICAL	HEM	beta-Thalassemia|Iron Overload	6	6p21.3	HFE	26195487	26205036		Mellouli, F.  et al. 2007	17303462				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Caucasian;Tunisian		CDC GDP info	3077	Hs.233325			Transfus Clin Biol    2007	HFE gene mutations in Tunisian major beta-Thalassemia and iron overload.		235200		CDC	2007	Our results suggest that H63D mutation is so frequent in Tunisian major beta-thalassemia patients than in the general population and that the coinheritance of H63D mutation does not influence the severity of iron overload in these patients.											
148516		iron levels	METABOLIC	MET		6	6p21.3	HFE	26195487	26205036		Lee, D.  et al. 2007	17585191				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410	Korean		CDC GDP info	3077	Hs.233325			Korean J Hepatol    2007    13(2)    174-84	The Prevalence of Peripheral Iron Overload and the Presence of HFE gene (H63D) Mutation among the Korean Patients with Nonalcoholic Fatty Liver Disease.		235200		CDC	2007	The prevalence of peripheral iron overload in the Korean NAFLD patients was not rare, and the presence of H63D mutation among NALFD patients was identified.											
148517	Y	myopia	VISION	VIS	Myopia, Degenerative	7	7q21.1	HGF	81169379	81237388		Han, W.  et al. 2006	16723436				Hepatocyte growth factor (hepapoietin A; scatter factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000601.4			CDC GDP info	3082	Hs.396530			Invest Ophthalmol Vis Sci    2006    47(6)    2291-9	Family-Based Association Analysis of Hepatocyte Growth Factor (HGF) Gene Polymorphisms in High Myopia		142409		CDC	2006	HGF is a potential locus associated with high myopia in the Han Chinese population.											
148518		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23.33	HHEX	94439660	94445388		Sladek, R.  et al. 2007	17293876				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3	French		CDC GDP info	3087	Hs.118651			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		604420		CDC	2007												
148519		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	10	10q23.33	HHEX	94439660	94445388		Saxena, R. et al.  et al. 2007	17463246				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3			CDC GDP info	3087	Hs.118651			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels		604420		CDC	2007												
148520		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23.33	HHEX	94439660	94445388		Scott, L. J. et al.  et al. 2007	17463248				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3	Finnish		CDC GDP info	3087	Hs.118651			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		604420		CDC	2007												
148521	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23.33	HHEX	94439660	94445388		Zeggini, E.  et al. 2007	17463249				Hematopoietically expressed homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002729.3			CDC GDP info	3087	Hs.118651			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		604420		CDC	2007												
148522	Y	HIF-1alpha protein expression	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q21-q24	HIF1A	61231991	61284729		Koukourakis, M. I.  et al. 2006	16837101			Intron	Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDP info	3091	Hs.509554			Lung Cancer    2006	C2028T polymorphism in exon 12 and dinucleotide repeat polymorphism in intron 13 of the HIF-1alpha gene define HIF-1alpha protein expression in non-small cell lung cancer		603348		CDC	2006	HIF-1alpha polymorphisms may have an important impact on HIF-protein stability and, eventually, function.											
148524	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Intracranial Arteriosclerosis|Intracranial Thrombosis|Acute Disease	14	14q21-q24	HIF1A	61231991	61284729			16871792				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2	Moscow		CDC GDP info	3091	Hs.509554			Genetika    2006    42(6)    858-61	Association of the IVS9-675C > A polymorphism of the HIF-1alpha gene with acute ischemic stroke in the Moscow population		603348		CDC	2006												
148526	Y	hypoxia	OTHER	OTH		14	14q21-q24	HIF1A	61231991	61284729		Liu, K.  et al. 2007	17407091				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDP info	3091	Hs.509554			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    230-2	Association of polymorphisms of 1772 (C to T) and 1790 (G to A) in HIF1A gene with hypoxia adaptation in high altitude in Sherpas.		603348		CDC	2007	Polymorphisms of HIF1A gene 1790 (G-->A) are associated with hypoxia adaptation in high altitude in Sherpas. GA and AA genotype may be benefit to hypoxia adaptation, and it is worthy of deep-going investigation.											
148527	Y	cervical cancer endometrial cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Endometrial Neoplasms|Uterine Cervical Neoplasms	14	14q21-q24	HIF1A	61231991	61284729		Konac, E.  et al. 2007	17418979				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2	Turkish		CDC GDP info	3091	Hs.509554			Cancer Detect Prev    2007	An investigation of relationships between hypoxia-inducible factor-1alpha gene polymorphisms and ovarian, cervical and endometrial cancers		603348		CDC	2007	Our results suggest that the C1772T polymorphism of the HIF-1 alpha may be associated with cervical and endometrial cancers.											
148528		hypoxia	OTHER	OTH	Anoxia	14	14q21-q24	HIF1A	61231991	61284729			17595907				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDP info	3091	Hs.509554			Fiziol Zh    2007    53(2)    16-24	Individual features of human adaptation to intermittent hypoxia		603348		CDC	2007												
148530		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p34	HIVEP3	41748270	42274183		Li, Y. J.  et al. 2007	17388942				Human immunodeficiency virus type I enhancer binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024503			CDC GDP info	59269	Hs.591503			Ann Hum Genet    2007	Investigation of the PARK10 Gene in Parkinson Disease		606649		CDC	2007												
148531			NORMALVARIATION	NV		6	6p21.3	HLA-16				Pedron, B.  et al. 2006	16829309				HLA-16 pseudogene		European;French		CDC GDP info	352964				Hum Immunol    2006    67(7)    540-50	HLA Alleles and Haplotypes in French North African Immigrants				CDC	2006												
148532		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130			16405603				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Brazilian		CDC GDP info	3105	Hs.181244			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		142800		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
148533			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Deng, Y.  et al. 2006	16456803				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		China	CDC GDP info	3105	Hs.181244			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    103-6	HLA-A, B, DRB1 gene polymorphism of Beijing population was studied by high-resolution polymerase chain reaction sequence-based typing.		142800		CDC	2006	The results showed the characteristics of HLA-A, B, DRB1 distributions, and provided more comprehensive and accurate gene data that may serve as normal reference values for all of Beijing people.											
148535		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130			16538176				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		142800		CDC	2006												
148536			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Qiu, X.  et al. 2006	16604503				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    219-21	Distribution of HLA-A, -B allele and haplotype polymorphism in the Tu nationality of Hubei province in China.		142800		CDC	2006	In the present study, we first analyzed the HLA-A, B gene typing with SBT, all of these results will be the basic and reference data for Tu race, and also will have the applications available to trace the population migration, clinical organ transplantation, disease-associated study, HLA genetic feature and forensic identification.											
148537		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-A	29963507	30085130		Nakanishi, K.  et al. 2006	16731854				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5		Japan	CDC GDP info	3105	Hs.181244			Diabetes    2006    55(6)    1862-8	Combination of HLA-A24, -DQA1*03, and -DR9 Contributes to Acute-Onset and Early Complete {beta}-Cell Destruction in Type 1 Diabetes		142800		CDC	2006												
148539			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Garcia-Ortiz, J. E.  et al. 2006	16866883				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Indian;Mexican		CDC GDP info	3105	Hs.181244			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		142800		CDC	2006												
148540			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Hajjej, A.  et al. 2006	16866885				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	European;Moroccan;Tunisian		CDC GDP info	3105	Hs.181244			Tissue Antigens    2006    68(2)    153-62	The contribution of HLA class I and II alleles and haplotypes to the investigation of the evolutionary history of Tunisians		142800		CDC	2006												
148542		Pigeon breeders disease	OTHER	OTH		6	6p21.3	HLA-A	29963507	30085130		Melo, N.  et al. 2005	16969536				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Rev Port Pneumol    2005    11(6 Suppl 1)    29	HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).		142800		CDC	2005	A significant increase of one HLA - DRB1*13 allele and one HLA - DQB1*03 allele, in the EAA, are already reported. The association of EAA and the decrease of the HLA - DRB1*08 and -DQB*04 alleles are also noticed. The high values of OR, that suggest an increased susceptibility to develop AAE, will need to be confirmed with larger samples.											
148543		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Morais, A.  et al. 2005	16969539				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Rev Port Pneumol    2005    11(6 Suppl 1)    32-3	HLA-class I and II genotyping in sarcoidosis patients.		142800		CDC	2005	This data adds support to the theory that HLA class I and II are associated with the sarcoidosis, its type of presentation, organ involvement and evolution.											
148544	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-A	29963507	30085130		Abanmi, A.  et al. 2006	17021767				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Saudi		CDC GDP info	3105	Hs.181244			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo		142800		CDC	2006												
148545		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-A	29963507	30085130		Xiao, F. L.  et al. 2006	17062033				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			J Eur Acad Dermatol Venereol    2006    20(10)    1207-13	Association of HLA haplotype with alopecia areata in Chinese Hans		142800		CDC	2006	This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA.											
148546		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-A	29963507	30085130		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		142800		CDC	2006												
148547			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Chen, S.  et al. 2006	17117954				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Japanese;Chinese;Korean;Asian	Tibet	CDC GDP info	3105	Hs.181244			Int J Immunogenet    2006    33(6)    439-45	Allelic distribution of HLA class I genes in the Tibetan ethnic population of China		142800		CDC	2006												
148550		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-A	29963507	30085130		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		142800		CDC	2007			measles vaccine									
148551			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Liu, M. L.  et al. 2006	17288808				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Zhonghua Yi Xue Za Zhi    2006    86(42)    2971-4	Polymorphism of human leukocyte antigen-A, B, and DRB1 genes in bone marrow registry donors of Shaanxi province analysis of 14 006 cases.		142800		CDC	2006	The characteristics of the polymorphism of HLA-A, B, and DRB1 genes in Shaanxi province were established which will be helpful for patients to find matched donors and establish the foundation for further studying population genetics and HLA-related diseases.											
148552		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Kostiuchek, D. F.  et al. 2006	17290883				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Arkh Patol    2006    68(6)    3-6	Expression of the major histocompability complex HLA-A2 gene in ovarian cancer		142800		CDC	2006												
148553	P		NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Brick, C.  et al. 2007	17306585				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	French;Italian;Moroccan;Portuguese;Sardinian;Tunisian		CDC GDP info	3105	Hs.181244			Transfus Clin Biol    2007	HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population		142800		CDC	2007	Our results confirm and extend the current knowledge about the Moroccan genetic pattern and reflect all the ethnic diversity of the country.											
148554		leukemia	CANCER	CAN	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-A	29963507	30085130		Morishima, Y.  et al. 2007	17317585				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Biol Blood Marrow Transplant    2007    13(3)    315-28	Effects of HLA Allele and Killer Immunoglobulin-Like Receptor Ligand Matching on Clinical Outcome in Leukemia Patients Undergoing Transplantation With T-cell-Replete Marrow From an Unrelated Donor		142800		CDC	2007	not only the mismatch of HLA-C and -DPB1, but also KIR-L-MM-G affected leukemia relapse, which should be considered based on leukemia cell type. Furthermore, KIR-L-MM induced adverse effects on acute GVHD (aGVHD) and rejection, and brought no survival benefits to patients with T-cell-replete UR-BMT.											
148555		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	HLA-A	29963507	30085130		Petersdorf, E. W.  et al. 2007	17378697				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			PLoS Med    2007    4(1)    e8	MHC haplotype matching for unrelated hematopoietic cell transplantation		142800		CDC	2007	The MHC harbors genes that encode unidentified transplantation antigens.											
148557		vitiligo	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Wang, J.  et al. 2007	17407088				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    221-3	Association of HLA class I and II alleles with generalized vitiligo in Chinese Hans in north China.		142800		CDC	2007	These alleles positively associated with generalized vitiligo in Chinese Han patients in north China, might provide clues to reveal the susceptibility gene(s) of vitiligo in Chinese and as well as the immunnogenetic mechanisms of disease.		family history									
148558		cervical cancer	CANCER	CAN	Carcinoma|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	6	6p21.3	HLA-A	29963507	30085130		Saito, M.  et al. 2007	17433060				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Int J Gynecol Cancer    2007	Association of human leukocyte antigen and T cell message with human papillomavirus 16-positive cervical neoplasia in Japanese women		142800		CDC	2007												
148559		leukemia lymphoma	CANCER	CAN	HTLV-I Infections	6	6p21.3	HLA-A	29963507	30085130		Goedert, J. J.  et al. 2007	17437273				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Int J Cancer    2007	Risk of human T-lymphotropic virus type I-associated diseases in Jamaica with common HLA types		142800		CDC	2007												
148561		hepatitis C sicca syndrome	INFECTION	INF	Hepatitis C, Chronic|Sjogren's Syndrome	6	6p21.3	HLA-A	29963507	30085130		Smyth, C. M.  et al. 2007	17489060				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Eur J Gastroenterol Hepatol    2007    19(6)    493-498	Chronic hepatitis C infection and sicca syndrome		142800		CDC	2007	The development of autoimmune disease in patients with chronic hepatitis C virus infection depends on the interaction of multiple factors.											
148562			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Wu, Q. J.  et al. 2007	17493347				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(2)    357-63	Gene and Haplotype Frequencies for the Loci HLA-A, B and DRB1 in 11755 North Chinese Han Bone Marrow Registry Donors.		142800		CDC	2007												
148563		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-A	29963507	30085130		Douroudis, K.  et al. 2007	17498269				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Greek		CDC GDP info	3105	Hs.181244			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		142800		CDC	2007												
148564		juvenile arthritis periodontitis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Periodontal Attachment Loss|Periodontitis|Chronic Disease	6	6p21.3	HLA-A	29963507	30085130		Reichert, S.  et al. 2007	17509091				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			J Clin Periodontol    2007    34(6)    492-8	Are there common human leucocyte antigen associations in juvenile idiopathic arthritis and periodontitis?		142800		CDC	2007	HLA-DRB3(*) could be a common putative risk indicator for juvenile idiopathic arthritis and chronic periodontitis among females.											
148565		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-A	29963507	30085130		Kawase, T.  et al. 2007	17554059				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		142800		CDC	2007												
148566		alveolar echinococcosis	INFECTION	INF		6	6p21.3	HLA-A	29963507	30085130		Aydinli, B.  et al. 2007	17573956				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Turkish		CDC GDP info	3105	Hs.181244			Hepatol Res    2007	Association between hepatic alveolar echinococcosis and frequency of human leukocyte antigen class I and II alleles in Turkish patients		142800		CDC	2007	The present study indicates that susceptibility to HAE in the Turkish population is essentially HLA class II and poorly class I mediated, with HLA-26, and DRB1*015, DQB1* 02, 06, 07 with more allele distribution in the patient group. Our results are not similar to those of other studies, but contribute to the discussions on the association of HLA class I and class II alleles with AE.											
148567		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-A	29963507	30085130		Gundogdu, F.  et al. 2007	17578051				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			J Heart Valve Dis    2007    16(3)    293-9	Human leukocyte antigen (HLA) class I and II alleles in Turkish patients with rheumatic heart disease		142800		CDC	2007	Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.											
148568			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Moscoso, J.  et al. 2006	16337001				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Spanish;Indian;Peruvian;Asian		CDC GDP info	3106	Hs.77961			Mol Immunol    2006    43(11)    1881-9	HLA genes in Lamas Peruvian-Amazonian Amerindians		142830		CDC	2006												
148569		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914			16405603				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Brazilian		CDC GDP info	3106	Hs.77961			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		142830		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
148571			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Deng, Y.  et al. 2006	16456803				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5		China	CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    103-6	HLA-A, B, DRB1 gene polymorphism of Beijing population was studied by high-resolution polymerase chain reaction sequence-based typing.		142830		CDC	2006	The results showed the characteristics of HLA-A, B, DRB1 distributions, and provided more comprehensive and accurate gene data that may serve as normal reference values for all of Beijing people.											
148573		polyangiitis	CARDIOVASCULAR	CARD	Vasculitis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Miyashita, R.  et al. 2006	16508981				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Arthritis Rheum    2006    54(3)    992-7	Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis		142830		CDC	2006	The decreased activation potential of NK and/or T cells associated with KIR/HLA genotypes may predispose to MPA, possibly through insufficient resistance against infections.											
148574		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914			16538176				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		142830		CDC	2006												
148575	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Qiu, X.  et al. 2006	16604503				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    219-21	Distribution of HLA-A, -B allele and haplotype polymorphism in the Tu nationality of Hubei province in China.		142830		CDC	2006	In the present study, we first analyzed the HLA-A, B gene typing with SBT, all of these results will be the basic and reference data for Tu race, and also will have the applications available to trace the population migration, clinical organ transplantation, disease-associated study, HLA genetic feature and forensic identification.											
148576		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies|Autoimmune Diseases	6	6p21.3	HLA-B	31344507	31432914		Thomas, R.  et al. 2006	16720212				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian	India	CDC GDP info	3106	Hs.77961			Hum Immunol    2006    67(4-5)    318-23	Association of an Extended Haplotype of HLA Class I Alleles and Their Flanking Microsatellites with Spondyloarthropathies in South Indian Patients		142830		CDC	2006												
148578			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Pedron, B.  et al. 2006	16829309				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	European;French		CDC GDP info	3106	Hs.77961			Hum Immunol    2006    67(7)    540-50	HLA Alleles and Haplotypes in French North African Immigrants		142830		CDC	2006												
148579		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.3	HLA-B	31344507	31432914		Reinders, J.  et al. 2006	16857416				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Oral Oncol    2006	HLA and MICA associations with head and neck squamous cell carcinoma		142830		CDC	2006												
148580			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Garcia-Ortiz, J. E.  et al. 2006	16866883				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Indian;Mexican		CDC GDP info	3106	Hs.77961			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		142830		CDC	2006												
148581			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Hajjej, A.  et al. 2006	16866885				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	European;Moroccan;Tunisian		CDC GDP info	3106	Hs.77961			Tissue Antigens    2006    68(2)    153-62	The contribution of HLA class I and II alleles and haplotypes to the investigation of the evolutionary history of Tunisians		142830		CDC	2006												
148583		ankylosing spondylitis	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Su, H.  et al. 2006	16883538				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    446-8	Disequilibrium linkage between the polymorphism in exons 2, 3 and 4 of the MICA gene and HLA-B antigen of patient with ankylosing spondylitis.		142830		CDC	2006	The increased frequency of MICA alleles may be due to its strong linkage disequilibrium with HLA-B27.											
148584	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Chen, Y.  et al. 2006	16883542				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    461-2	Distribution of HLA-B allele polymorphism of 8962 Han population in Liaoning of China.		142830		CDC	2006	The HLA-B allele polymorphism distribution of Liaoning Han population exhibits its own characteristic and the difference from old south and north Han population in China.											
148586		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Xia, Q.  et al. 2006	16922942				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			J Eur Acad Dermatol Venereol    2006    20(8)    941-6	MHC haplotypic association in Chinese Han patients with vitiligo		142830		CDC	2006	This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.											
148587		Pigeon breeders disease	OTHER	OTH		6	6p21.3	HLA-B	31344507	31432914		Melo, N.  et al. 2005	16969536				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Rev Port Pneumol    2005    11(6 Suppl 1)    29	HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).		142830		CDC	2005	A significant increase of one HLA - DRB1*13 allele and one HLA - DQB1*03 allele, in the EAA, are already reported. The association of EAA and the decrease of the HLA - DRB1*08 and -DQB*04 alleles are also noticed. The high values of OR, that suggest an increased susceptibility to develop AAE, will need to be confirmed with larger samples.											
148589		carbamazepine	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	6	6p21.3	HLA-B	31344507	31432914		Alfirevic, A.  et al. 2006	16981842				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Chinese;Caucasian		CDC GDP info	3106	Hs.77961			Pharmacogenomics    2006    7(6)    813-818	HLA-B locus in Caucasian patients with carbamazepine hypersensitivity.		142830		CDC	2006	HLA-B*1502 does not seem to be a marker for all forms of CBZ-induced hypersensitivity in a Caucasian population.											
148590	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-B	31344507	31432914		Abanmi, A.  et al. 2006	17021767				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Saudi		CDC GDP info	3106	Hs.77961			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo		142830		CDC	2006												
148591		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-B	31344507	31432914		Xiao, F. L.  et al. 2006	17062033				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			J Eur Acad Dermatol Venereol    2006    20(10)    1207-13	Association of HLA haplotype with alopecia areata in Chinese Hans		142830		CDC	2006	This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA.											
148592		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-B	31344507	31432914		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		142830		CDC	2006												
148594		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Palikhe, A.  et al. 2007	17212707				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		142830		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
148595		Rubella vaccine, cytokine response to	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Ovsyannikova, I. G.  et al. 2007	17215337				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Clin Vaccine Immunol    2007	Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination		142830		CDC	2007												
148596		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-B	31344507	31432914		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		142830		CDC	2007			measles vaccine									
148598			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Liu, M. L.  et al. 2006	17288808				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Za Zhi    2006    86(42)    2971-4	Polymorphism of human leukocyte antigen-A, B, and DRB1 genes in bone marrow registry donors of Shaanxi province analysis of 14 006 cases.		142830		CDC	2006	The characteristics of the polymorphism of HLA-A, B, and DRB1 genes in Shaanxi province were established which will be helpful for patients to find matched donors and establish the foundation for further studying population genetics and HLA-related diseases.											
148600		leukemia	CANCER	CAN	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-B	31344507	31432914		Morishima, Y.  et al. 2007	17317585				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Biol Blood Marrow Transplant    2007    13(3)    315-28	Effects of HLA Allele and Killer Immunoglobulin-Like Receptor Ligand Matching on Clinical Outcome in Leukemia Patients Undergoing Transplantation With T-cell-Replete Marrow From an Unrelated Donor		142830		CDC	2007	not only the mismatch of HLA-C and -DPB1, but also KIR-L-MM-G affected leukemia relapse, which should be considered based on leukemia cell type. Furthermore, KIR-L-MM induced adverse effects on acute GVHD (aGVHD) and rejection, and brought no survival benefits to patients with T-cell-replete UR-BMT.											
148601		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	HLA-B	31344507	31432914		Petersdorf, E. W.  et al. 2007	17378697				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			PLoS Med    2007    4(1)    e8	MHC haplotype matching for unrelated hematopoietic cell transplantation		142830		CDC	2007	The MHC harbors genes that encode unidentified transplantation antigens.											
148602		cervical cancer	CANCER	CAN	Carcinoma|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	6	6p21.3	HLA-B	31344507	31432914		Saito, M.  et al. 2007	17433060				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Int J Gynecol Cancer    2007	Association of human leukocyte antigen and T cell message with human papillomavirus 16-positive cervical neoplasia in Japanese women		142830		CDC	2007												
148604	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Leffell, M. S.  et al. 2007	17460569				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Transplantation    2007    83(7)    964-972	Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility		142830		CDC	2007	The noted improvements in HLA definition and the overall lack of significant deviation from HWE indicate the accuracy of these HLA frequencies.											
148605		hepatitis C sicca syndrome	INFECTION	INF	Hepatitis C, Chronic|Sjogren's Syndrome	6	6p21.3	HLA-B	31344507	31432914		Smyth, C. M.  et al. 2007	17489060				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Eur J Gastroenterol Hepatol    2007    19(6)    493-498	Chronic hepatitis C infection and sicca syndrome		142830		CDC	2007	The development of autoimmune disease in patients with chronic hepatitis C virus infection depends on the interaction of multiple factors.											
148606			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Wu, Q. J.  et al. 2007	17493347				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(2)    357-63	Gene and Haplotype Frequencies for the Loci HLA-A, B and DRB1 in 11755 North Chinese Han Bone Marrow Registry Donors.		142830		CDC	2007												
148607		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-B	31344507	31432914		Douroudis, K.  et al. 2007	17498269				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Greek		CDC GDP info	3106	Hs.77961			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		142830		CDC	2007												
148608		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Fang, M.  et al. 2007	17523949				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Scand J Immunol    2007    65(6)    559-66	Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China		142830		CDC	2007												
148609		human papilloma virus/HPV	INFECTION	INF	Papillomavirus Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Mahmud, S. M.  et al. 2007	17538887				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			J Infect Dis    2007    196(1)    82-90	HLA Polymorphisms and Cervical Human Papillomavirus Infection in a Cohort of Montreal University Students		142830		CDC	2007	The results of this study support the hypothesis that certain HLA class II polymorphisms mediate genetic susceptibility to the acquisition of HPV infection.											
148611		alveolar echinococcosis	INFECTION	INF		6	6p21.3	HLA-B	31344507	31432914		Aydinli, B.  et al. 2007	17573956				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish		CDC GDP info	3106	Hs.77961			Hepatol Res    2007	Association between hepatic alveolar echinococcosis and frequency of human leukocyte antigen class I and II alleles in Turkish patients		142830		CDC	2007	The present study indicates that susceptibility to HAE in the Turkish population is essentially HLA class II and poorly class I mediated, with HLA-26, and DRB1*015, DQB1* 02, 06, 07 with more allele distribution in the patient group. Our results are not similar to those of other studies, but contribute to the discussions on the association of HLA class I and class II alleles with AE.											
148612		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-B	31344507	31432914		Gundogdu, F.  et al. 2007	17578051				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			J Heart Valve Dis    2007    16(3)    293-9	Human leukocyte antigen (HLA) class I and II alleles in Turkish patients with rheumatic heart disease		142830		CDC	2007	Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.											
148613		dermatomyositis myopathy, idiopathic inflammatory polymyositis	IMMUNE	IMM	Myositis|Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Chinoy, H.  et al. 2007	17586554				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Caucasian		CDC GDP info	3106	Hs.77961			Rheumatology (Oxford)    2007	Tumour necrosis factor-{alpha} single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies		142830		CDC	2007												
148614		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914			16405603				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Brazilian		CDC GDP info	3107	Hs.591791			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		142840		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
148615		hepatitis C	INFECTION	INF		6	6p21.3	HLA-C	31344507	31432914		Montes-Cano, M. A.  et al. 2005	16571411				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Hum Immunol    2005    66(11)    1106-9	HLA-C and KIR Genes in Hepatitis C Virus Infection		142840		CDC	2005												
148617		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies|Autoimmune Diseases	6	6p21.3	HLA-C	31344507	31432914		Thomas, R.  et al. 2006	16720212				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Indian	India	CDC GDP info	3107	Hs.591791			Hum Immunol    2006    67(4-5)    318-23	Association of an Extended Haplotype of HLA Class I Alleles and Their Flanking Microsatellites with Spondyloarthropathies in South Indian Patients		142840		CDC	2006												
148619		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Ploski, R.  et al. 2006	16829306				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Polish		CDC GDP info	3107	Hs.591791			Hum Immunol    2006    67(7)    521-6	A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis		142840		CDC	2006	the effect of the KIR genes on psoriasis susceptibility is complex, extending beyond the association with KIR2DS1 and involving protective effects and interactions.											
148620		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.3	HLA-C	31344507	31432914		Reinders, J.  et al. 2006	16857416				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Oral Oncol    2006	HLA and MICA associations with head and neck squamous cell carcinoma		142840		CDC	2006												
148621			NORMALVARIATION	NV		6	6p21.3	HLA-C	31344507	31432914		Garcia-Ortiz, J. E.  et al. 2006	16866883				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Indian;Mexican		CDC GDP info	3107	Hs.591791			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		142840		CDC	2006												
148622		hepatitis B	INFECTION	INF		6	6p21.3	HLA-C	31344507	31432914		Kim, J. H.  et al. 2006	16890179				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		142840		CDC	2006												
148623		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Xia, Q.  et al. 2006	16922942				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			J Eur Acad Dermatol Venereol    2006    20(8)    941-6	MHC haplotypic association in Chinese Han patients with vitiligo		142840		CDC	2006	This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.											
148625		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Morais, A.  et al. 2005	16969539				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Rev Port Pneumol    2005    11(6 Suppl 1)    32-3	HLA-class I and II genotyping in sarcoidosis patients.		142840		CDC	2005	This data adds support to the theory that HLA class I and II are associated with the sarcoidosis, its type of presentation, organ involvement and evolution.											
148626	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-C	31344507	31432914		Abanmi, A.  et al. 2006	17021767				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Saudi		CDC GDP info	3107	Hs.591791			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo		142840		CDC	2006												
148628		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-C	31344507	31432914		Xiao, F. L.  et al. 2006	17062033				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			J Eur Acad Dermatol Venereol    2006    20(10)    1207-13	Association of HLA haplotype with alopecia areata in Chinese Hans		142840		CDC	2006	This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA.											
148629		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-C	31344507	31432914		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		142840		CDC	2006												
148630	P		NORMALVARIATION	NV		6	6p21.3	HLA-C	31344507	31432914		Chen, S.  et al. 2006	17117954				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Japanese;Chinese;Korean;Asian	Tibet	CDC GDP info	3107	Hs.591791			Int J Immunogenet    2006    33(6)    439-45	Allelic distribution of HLA class I genes in the Tibetan ethnic population of China		142840		CDC	2006												
148632		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Yeo, T. W.  et al. 2007	17252545				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Ann Neurol    2007	A second major histocompatibility complex susceptibility locus for multiple sclerosis		142840		CDC	2007												
148633		leukemia	CANCER	CAN	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-C	31344507	31432914		Morishima, Y.  et al. 2007	17317585				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Biol Blood Marrow Transplant    2007    13(3)    315-28	Effects of HLA Allele and Killer Immunoglobulin-Like Receptor Ligand Matching on Clinical Outcome in Leukemia Patients Undergoing Transplantation With T-cell-Replete Marrow From an Unrelated Donor		142840		CDC	2007	not only the mismatch of HLA-C and -DPB1, but also KIR-L-MM-G affected leukemia relapse, which should be considered based on leukemia cell type. Furthermore, KIR-L-MM induced adverse effects on acute GVHD (aGVHD) and rejection, and brought no survival benefits to patients with T-cell-replete UR-BMT.											
148635		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	HLA-C	31344507	31432914		Petersdorf, E. W.  et al. 2007	17378697				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			PLoS Med    2007    4(1)    e8	MHC haplotype matching for unrelated hematopoietic cell transplantation		142840		CDC	2007	The MHC harbors genes that encode unidentified transplantation antigens.											
148636	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Chang, Y. T.  et al. 2007	17388919				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		142840		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
148637		vitiligo	IMMUNE	IMM		6	6p21.3	HLA-C	31344507	31432914		Wang, J.  et al. 2007	17407088				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    221-3	Association of HLA class I and II alleles with generalized vitiligo in Chinese Hans in north China.		142840		CDC	2007	These alleles positively associated with generalized vitiligo in Chinese Han patients in north China, might provide clues to reveal the susceptibility gene(s) of vitiligo in Chinese and as well as the immunnogenetic mechanisms of disease.		family history									
148638		hepatitis C sicca syndrome	INFECTION	INF	Hepatitis C, Chronic|Sjogren's Syndrome	6	6p21.3	HLA-C	31344507	31432914		Smyth, C. M.  et al. 2007	17489060				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Eur J Gastroenterol Hepatol    2007    19(6)    493-498	Chronic hepatitis C infection and sicca syndrome		142840		CDC	2007	The development of autoimmune disease in patients with chronic hepatitis C virus infection depends on the interaction of multiple factors.											
148639		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-C	31344507	31432914		Douroudis, K.  et al. 2007	17498269				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Greek		CDC GDP info	3107	Hs.591791			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		142840		CDC	2007												
148640		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Fang, M.  et al. 2007	17523949				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Scand J Immunol    2007    65(6)    559-66	Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China		142840		CDC	2007												
148642		alveolar echinococcosis	INFECTION	INF		6	6p21.3	HLA-C	31344507	31432914		Aydinli, B.  et al. 2007	17573956				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Turkish		CDC GDP info	3107	Hs.591791			Hepatol Res    2007	Association between hepatic alveolar echinococcosis and frequency of human leukocyte antigen class I and II alleles in Turkish patients		142840		CDC	2007	The present study indicates that susceptibility to HAE in the Turkish population is essentially HLA class II and poorly class I mediated, with HLA-26, and DRB1*015, DQB1* 02, 06, 07 with more allele distribution in the patient group. Our results are not similar to those of other studies, but contribute to the discussions on the association of HLA class I and class II alleles with AE.											
148643		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-C	31344507	31432914		Gundogdu, F.  et al. 2007	17578051				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			J Heart Valve Dis    2007    16(3)    293-9	Human leukocyte antigen (HLA) class I and II alleles in Turkish patients with rheumatic heart disease		142840		CDC	2007	Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.											
148644		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous	6	6p21.3	HLA-C	31344507	31432914		Wang, S.  et al. 2007	17617375				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Biochem Biophys Res Commun    2007	Increased activating killer immunoglobulin-like receptor genes and decreased specific HLA-C alleles in couples with recurrent spontaneous abortion		142840		CDC	2007												
148645		medicamentosa like dermatitis, trichloroethylene-induced	OTHER	OTH	Dermatitis, Occupational|Genetic Predisposition to Disease	6	6p21.3	HLA-DMA	33024372	33028831		Yue, F.  et al. 2006	16737583				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186			CDC GDP info	3108	Hs.351279			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(5)    263-5	Relationship of trichloroethylene-induced medicamentosa like dermatitis to HLA-DMA and HLA-DMB.		142855		CDC	2006	The polymorphisms of DMA may be related to the susceptibility of the patients with trichloroethylene-induced medicamentosa like dermatitis.											
148647		medicamentosa like dermatitis, trichloroethylene-induced	OTHER	OTH	Dermatitis, Occupational|Genetic Predisposition to Disease	6	6p21.3	HLA-DMB	33010387	33016795		Yue, F.  et al. 2006	16737583				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3			CDC GDP info	3109	Hs.351279			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(5)    263-5	Relationship of trichloroethylene-induced medicamentosa like dermatitis to HLA-DMA and HLA-DMB.		142856		CDC	2006	The polymorphisms of DMA may be related to the susceptibility of the patients with trichloroethylene-induced medicamentosa like dermatitis.											
148648		condyloma acuminata	INFECTION	INF		6	6p21.3	HLA-DMB	33010387	33016795		Yang, W. L.  et al. 2006	16864101				Major histocompatibility complex, class II, DM beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002118.3			CDC GDP info	3109	Hs.351279			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(7)    1014-6	HLA-DM gene polymorphism in Cantonese with condyloma acuminata.		142856		CDC	2006	DMA*0101 and DMB*0101 alleles may be the susceptibility genes or closely linked to the susceptibility gene in Cantonese patients with CA.											
148649	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DPA1	33140771	33156522		Liu, W.  et al. 2006	17060025				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDP info	3113	Hs.347270			Autoimmunity    2006    39(6)    461-7	Association of HLA class II DRB1, DPA1 and DPB1 polymorphism with genetic susceptibility to idiopathic dilated cardiomyopathy in Chinese Han nationality		142880		CDC	2006												
148651		vaccine response	IMMUNE	IMM		6	6p21.3	HLA-DPB1	33151737	33162954		Ovsyannikova, I. G.  et al. 2006	16453260				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			J Infect Dis    2006    193(5)    655-63	Human leukocyte antigen haplotypes in the genetic control of immune response to measles-mumps-rubella vaccine		142858		CDC	2006												
148652		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Stuchlikova, M.  et al. 2006	16796127				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Bratisl Lek Listy    2006    107(3)    73-5	Association of HLA-DPB1 alleles with type I diabetes mellitus in Slovak population		142858		CDC	2006	The expected significant decrease in the frequency of DPB1*0402 was confirmed, whereas positive associations with DPB1*0301 and DPB1*0202, did not prove to be true, respectively (Tab. 1, Ref: 19).											
148653			NORMALVARIATION	NV		6	6p21.3	HLA-DPB1	33151737	33162954		Garcia-Ortiz, J. E.  et al. 2006	16866883				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Indian;Mexican		CDC GDP info	3115	Hs.485130			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		142858		CDC	2006												
148655	Y	asthma, aspirin-intolerant	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Kim, S. H.  et al. 2006	17014432				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Clin Exp Allergy    2006    36(10)    1247-53	Association of TNF-alpha genetic polymorphism with HLA DPB1(*)0301		142858		CDC	2006	TNF-alpha promoter polymorphism may significantly increase susceptibility to AIA by gene-to-gene interaction with HLA DPB1*0301.											
148656			NORMALVARIATION	NV		6	6p21.3	HLA-DPB1	33151737	33162954		Tracey, M. C.  et al. 2006	17026464				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	New Zealand		CDC GDP info	3115	Hs.485130			Tissue Antigens    2006    68(4)    297-302	Class II HLA allele polymorphism		142858		CDC	2006												
148657	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Liu, W.  et al. 2006	17060025				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Autoimmunity    2006    39(6)    461-7	Association of HLA class II DRB1, DPA1 and DPB1 polymorphism with genetic susceptibility to idiopathic dilated cardiomyopathy in Chinese Han nationality		142858		CDC	2006												
148658		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Saad, A. H.  et al. 2006	17153701				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors		142858		CDC	2006												
148659		cervical cancer	CANCER	CAN	Carcinoma|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Wu, Y.  et al. 2007	17311339				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			J Med Virol    2007    79(4)    439-446	HPV16 E6 variants and HLA class II polymorphism among Chinese women with cervical cancer		142858		CDC	2007			human papillomavirus									
148661		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Wu, Y.  et al. 2007	17349874				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Hum Immunol    2007    68(3)    192-200	Human Leukocyte Antigen Class II Alleles and Risk of Cervical Cancer in China		142858		CDC	2007												
148662		physiologic constitutions, Traditional Chinese Med. Defined	NORMALVARIATION	NV		6	6p21.3	HLA-DPB1	33151737	33162954		Chen, S.  et al. 2007	17388766				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			J Altern Complement Med    2007    13(2)    231-240	HLA Class II Polymorphisms Associated with The Physiologic Characteristics Defined by Traditional Chinese Medicine		142858		CDC	2007	This was the first study to systematically investigate the relationship between HLA and TCM constitution using a high-resolution typing technique. The results suggested a genetic basis for the classification of physical constitution in TCM. This study laid the foundation, for the first time ever, toward gaining insight into the theory of traditional medicine using modern biological approaches.											
148663		anti-islet autoantibodies diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DPB1	33151737	33162954		Baschal, E. E.  et al. 2007	17513705				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Diabetes    2007	HLA-DPB1*0402 Protects Against Type 1A Diabetic Autoimmunity in the Highest Risk DR3-DQB1*0201/DR4-DQB1*0302 DAISY Population		142858		CDC	2007	The ability to identify a major group of general population newborns with a 20% risk of anti-islet autoimmunity should enhance both studies of the environmental determinants of type 1A diabetes and the design of trials for the primary prevention of anti-islet autoimmunity.											
148664		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Kawase, T.  et al. 2007	17554059				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		142858		CDC	2007												
148666		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Ronningen, K. S.  et al. 2001	11685287				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Diabetologia    2001    44(15)    B51-9	Correlations between the incidence of childhood-onset Type I diabetes in Europe and HLA genotypes		146880		CDC	2001												
148667	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-DQA1	32713160	32722817			16409268				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Int J Dermatol    2005    44(12)    1022-7	Association of HLA-DQA1 and DQB1 genes with vitiligo in Chinese Hans		146880		CDC	2005	HLA-DQA1*0302, -DQA1*0601, -DQB1*0303, and -DQB1*0503 alleles could be susceptible alleles of vitiligo, while HLA-DQA1*0501 allele could be a protective allele in Chinese Hans. There may be different genetic backgrounds between vitiligo patients of childhood and adult, localized and generalized.											
148669	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Planelles, D.  et al. 2006	16433795				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Br J Dermatol    2006    154(2)    261-6	HLA class II polymorphisms in Spanish melanoma patients		146880		CDC	2006	Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population.		hair color									
148670	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Wongsurawat, T.  et al. 2006	16451208				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian;Korean;Thai;Asian	Thailand	CDC GDP info	3117	Hs.387679			Tissue Antigens    2006    67(1)    79-83	The association between HLA class II haplotype with Graves' disease in Thai population		146880		CDC	2006												
148671		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	6	6p21.3	HLA-DQA1	32713160	32722817		Redondo, M. J.  et al. 2006	16464953				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Clin Endocrinol Metab    2006	Specific HLA DQ Influence on Expression of Anti-Islet Autoantibodies and Progression to Type 1 Diabetes		146880		CDC	2006	HLA DQ alleles determine autoantibody expression, which is correlated with diabetes progression.											
148672		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Karinen, H.  et al. 2006	16484124				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Finnish		CDC GDP info	3117	Hs.387679			Scand J Gastroenterol    2006    41(2)    191-9	Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease		146880		CDC	2006	Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet.											
148673		myositis	IMMUNE	IMM	Dermatomyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DQA1	32713160	32722817		Chinoy, H.  et al. 2005	16507114				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDP info	3117	Hs.387679			Arthritis Res Ther    2005    8(1)    R13	In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype		146880		CDC	2005	these findings support the notion that myositis patients with differing myositis serology have different immunogenetic profiles, and that these profiles may define specific myositis subtypes.											
148674		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817			16540751				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Italy	CDC GDP info	3117	Hs.387679			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		146880		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
148675	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Sumnik, Z.  et al. 2006	16567828				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	European		CDC GDP info	3117	Hs.387679			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		146880		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
148676	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Nunez, C.  et al. 2006	16579847				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			BMC Med Genet    2006    7(1)    32	Interleukin-10 haplotypes in Celiac Disease in the Spanish population		146880		CDC	2006												
148677		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Ahmedov, G.  et al. 2006	16629714				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Czech Republic	CDC GDP info	3117	Hs.387679			Pediatr Diabetes    2006    7(2)    88-93	Genetic association of type 1 diabetes in an Azerbaijanian population		146880		CDC	2006	We bring the first report on both HLA, and non-HLA association of T1DM from the majority Azeri population of Azerbaijan.											
148678	N	birth weight diabetes, type 1 head circumference at birth	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease|Birth Weight	6	6p21.3	HLA-DQA1	32713160	32722817		Stene, L. C.  et al. 2006	16691379				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Norwegian	Norway	CDC GDP info	3117	Hs.387679			Diabetologia    2006	The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype		146880		CDC	2006	 In contrast to suggestions from previous indirect studies, direct adjustment for INS and HLA genotypes did not lead to a stronger relation between birthweight and the risk of type 1 diabetes.		birth weight									
148679		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Van Autreve, J. E.  et al. 2006	16698430				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Belgium	CDC GDP info	3117	Hs.387679			Hum Immunol    2006    67(1-2)    94-101	MICA is Associated with Type 1 Diabetes in the Belgian Population, Independent of HLA-DQ		146880		CDC	2006	MICA is associated with type 1 diabetes in the Belgian population and the observed association does not result from the HLA-DQ associated risk.											
148680		posttreatment Th2 immune response to S. mansoni Ags	INFECTION	INF	Schistosomiasis|Recurrence	6	6p21.3	HLA-DQA1	32713160	32722817		Booth, M.  et al. 2006	16709874				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Immunol    2006    176(11)    7112-8	Carriage of DRB1*13 Is Associated with Increased Posttreatment IgE Levels against Schistosoma mansoni Antigens and Lower Long-Term Reinfection Levels		146880		CDC	2006												
148682		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	HLA-DQA1	32713160	32722817		Saruhan-Direskeneli, G.  et al. 2006	16720217				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Turkish	Turkey	CDC GDP info	3117	Hs.387679			Hum Immunol    2006    67(4-5)    352-8	HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis		146880		CDC	2006												
148683		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQA1	32713160	32722817		Nakanishi, K.  et al. 2006	16731854				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Japan	CDC GDP info	3117	Hs.387679			Diabetes    2006    55(6)    1862-8	Combination of HLA-A24, -DQA1*03, and -DR9 Contributes to Acute-Onset and Early Complete {beta}-Cell Destruction in Type 1 Diabetes		146880		CDC	2006												
148685	Y	autoimmune response	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Jonson, C. O.  et al. 2006	16792673				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Clin Exp Immunol    2006    145(1)    48-55	The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children		146880		CDC	2006												
148686		celiac disease gluten intolerance	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ludvigsson, J. F.  et al. 2006	16803690				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Scand J Gastroenterol    2006    41(8)    919-28	Effect of HLA DQ2, dietary exposure and coeliac disease on the development of antibody response to gliadin in children		146880		CDC	2006	Enhanced humoral response emerging not only to gliadin, but also to other food antigens seems to be primarily associated with CD.											
148687		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DQA1	32713160	32722817		Torn, C.  et al. 2006	16829307				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Hum Immunol    2006    67(7)    527-34	Polymorphisms of TNF microsatellite marker a and HLA-DR-DQ in diabetes mellitus-a study in 609 Swedish subjects		146880		CDC	2006												
148688		dermatitis and eczema, trichoroethylene-induced	IMMUNE	IMM		6	6p21.3	HLA-DQA1	32713160	32722817		Li, H. S.  et al. 2006	16836882				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(3)    173-6	Possible association between polymorphisms of human leukocyte antigen-DQ genes and susceptibility to trichloroethylene-induced severe generalized dermatitis.		146880		CDC	2006	The genetic polymorphisms of HLA-DQA1 might be one of the factors influencing the individual susceptibility to TCE-induced severe generalized dermatitis.											
148689		Addison's disease	IMMUNE	IMM	Adrenal Insufficiency|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ghaderi, M.  et al. 2006	16849401				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Clin Endocrinol Metab    2006	MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency		146880		CDC	2006	Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes.											
148690		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Nunez, C.  et al. 2006	16865785			promoter	Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3		Spain	CDC GDP info	3117	Hs.387679			World J Gastroenterol    2006    12(27)    4397-400	A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population		146880		CDC	2006	The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 (-) patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.											
148691		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Granados, J.  et al. 2006	16875346				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian;Mexican		CDC GDP info	3117	Hs.387679			Gac Med Mex    2006    142(3)    195-9	Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population		146880		CDC	2006												
148692		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Ogata, T.  et al. 2006	16879749				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Belgian;Canadian		CDC GDP info	3117	Hs.387679			BMC Med Genet    2006    7(1)    67	Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population		146880		CDC	2006	This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
148693		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817		Lu, L.  et al. 2006	16883532				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    427-30	Association of haplotype formed on HLA-DRB1 and HLA-DQA1 alleles with outcomes of hepatitis B virus infection.		146880		CDC	2006	Individuals with different haplotypes composed of HLA-DRB1 and HLA-DQA1 might have different outcomes of HBV infection.											
148694			NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Hong, X.  et al. 2006	16883543				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    463-5	The genetic polymorphism of HLA-DQA1 and HLA-DQB1 genes of Chinese Han population in Jiangsu area is studied by PCR-squence-based typing.		146880		CDC	2006	The distribution of HLA-DQ alleles and haplotypes in Jiangsu Han population shares some genetic characteristics with other population in northern of China, but has its own characteristics. The data will provide useful information for anthropology, organ transplantation and disease association studies.											
148695	Y	nasal polyposis	OTHER	OTH	Nasal Polyps|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Fajardo-Dolci, G.  et al. 2006	16890076				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Otolaryngol Head Neck Surg    2006    135(2)    243-7	DQA1 and DQB1 association and nasal polyposis		146880		CDC	2006	HLA-DQA1*0201-DQB1*0201 haplotype is involved in susceptibility, conferring 5.53 times more risk of developing this disease. EBM rating: B-2b.											
148697		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	HLA-DQA1	32713160	32722817		Deitiker, P. R.  et al. 2006	16891216				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Autoimmunity    2006    39(4)    277-88	Subtle differences in HLA DQ haplotype-associated presentation of AChR alpha-chain peptides may suffice to mediate myasthenia gravis		146880		CDC	2006												
148698		birth weight	METABOLIC	MET	Birth Weight	6	6p21.3	HLA-DQA1	32713160	32722817		Taylor, G. M.  et al. 2006	16911023				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Paediatr Perinat Epidemiol    2006    20(5)    438-48	Interactions between fetal HLA-DQ alleles and maternal smoking influence birthweight		146880		CDC	2006			smoking (tobacco), maternal									
148699		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Cintado, A.  et al. 2006	16916661				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Hum Immunol    2006    67(8)    639-42	HLA DQA1*0501 and DQB1*02 in Cuban Celiac Patients		146880		CDC	2006	we found that the proportion of our celiac patients carrying DQ2 was similar to the proportion of CD patients reported in populations with different genetic backgrounds.											
148700		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Xia, Q.  et al. 2006	16922942				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Eur Acad Dermatol Venereol    2006    20(8)    941-6	MHC haplotypic association in Chinese Han patients with vitiligo		146880		CDC	2006	This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.											
148701		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Donaldson, P. T.  et al. 2006	16941709				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian	Great Britain|Italy	CDC GDP info	3117	Hs.387679			Hepatology    2006    44(3)    667-674	HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis		146880		CDC	2006	a complex relationship exists between HLA and PBC, and some genetic associations may be population specific.											
148704	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-DQA1	32713160	32722817		Abanmi, A.  et al. 2006	17021767				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Saudi		CDC GDP info	3117	Hs.387679			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo		146880		CDC	2006												
148705		intrahepatic cholestasis of pregnancy	REPRODUCTION	REP		6	6p21.3	HLA-DQA1	32713160	32722817		Peng, B.  et al. 2006	17029208				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    555-557	Association of genetic polymorphisms in human leukocyte antigen-DQA1 with intrahepatic cholestasis of pregnancy in Chengdu district.		146880		CDC	2006	The above findings suggest that there is no significant association between the genetic polymorphisms in HLA-DQA1 and ICP in Chengdu district; HLA-DQA1*0301 may be a protective gene against ICP. It may prevent the development of ICP.											
148706		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DQA1	32713160	32722817		Xiao, F. L.  et al. 2006	17062033				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Eur Acad Dermatol Venereol    2006    20(10)    1207-13	Association of HLA haplotype with alopecia areata in Chinese Hans		146880		CDC	2006	This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA.											
148708		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-DQA1	32713160	32722817		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		146880		CDC	2007			measles vaccine									
148709		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Wiencke, K.  et al. 2007	17257319				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Norwegian		CDC GDP info	3117	Hs.387679			Tissue Antigens    2007    69(2)    161-9	Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes		146880		CDC	2007	our study shows that a gene in LD with D6S265 contributes to susceptibility to develop PSC in individuals carrying DR6.											
148710		nasal polyps	OTHER	OTH	Nasal Polyps	6	6p21.3	HLA-DQA1	32713160	32722817		Zhai, L.  et al. 2007	17305280				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Ann Otol Rhinol Laryngol    2007    116(1)    66-8	Polymorphism between loci for human leukocyte antigens DR and DQ in patients with nasal polyps		146880		CDC	2007	We conclude that HLA-DR16, HLA-DQ8, and HLA-DQ9 represent potential susceptibility determinants and that HLA-DQ7 might confer resistance in nasal polyps.											
148712		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQA1	32713160	32722817		Schmidt, H.  et al. 2007	17329717				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian;European		CDC GDP info	3117	Hs.387679			Am J Epidemiol    2007	HLA-DR15 Haplotype and Multiple Sclerosis		146880		CDC	2007												
148713		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Bourgey, M. M.  et al. 2007	17344279				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Italian		CDC GDP info	3117	Hs.387679			Gut    2007	HLA-related genetic risk for coeliac disease		146880		CDC	2007	These results make it possible to provide more accurate information to parents with a child with CD about the real risk for another child.											
148714		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Alizadeh, B. Z.  et al. 2007	17350686				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Mol Immunol    2007	MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes		146880		CDC	2007												
148715		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	6p21.3	HLA-DQA1	32713160	32722817		Amirzargar, A. A.  et al. 2007	17387388				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Iranian	Iran	CDC GDP info	3117	Hs.387679			Pathol Oncol Res    2007    13(1)    47-51	Association of HLA Class II Allele and Haplotype Frequencies with Chronic Myelogenous Leukemia and Age-at-Onset of the Disease		146880		CDC	2007	it is suggested that positive and negative association in certain HLA alleles and haplotypes exist in Iranian patients with CML.											
148716		birth weight gestational infections	INFECTION	INF	Infection|Gastroenteritis|Pregnancy Complications|Diabetes Mellitus, Type 1|Birth Weight	6	6p21.3	HLA-DQA1	32713160	32722817		Larsson, H. E.  et al. 2007	17406854				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Diabetologia    2007	Relationship between increased relative birthweight and infections during pregnancy in children with a high-risk diabetes HLA genotype		146880		CDC	2007	 This study revealed that: (1) gestational fever, gastroenteritis, or both, increased the risk of HrBW; (2) cord blood islet autoantibodies decreased the risk of HrBW only in combination with infections; and (3) infections aggravated the association between HLA-DQ2/8 and HrBW. These data suggest an interaction between HLA, gestational infections, islet autoantibodies and fetal growth.											
148717			NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Voorter, C. E.  et al. 2007	17445172				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian;Korean		CDC GDP info	3117	Hs.387679			Tissue Antigens    2007    69 Suppl 1    76-81	Sequence-based typing of HLA-DQA1		146880		CDC	2007												
148719	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Leffell, M. S.  et al. 2007	17460569				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Transplantation    2007    83(7)    964-972	Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility		146880		CDC	2007	The noted improvements in HLA definition and the overall lack of significant deviation from HWE indicate the accuracy of these HLA frequencies.											
148720	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.3	HLA-DQA1	32713160	32722817		Chen, P. C.  et al. 2007	17484621				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Clin Chem Lab Med    2007    45(5)    611-614	HLA-DQA1 and -DQB1 allele typing in southern Taiwanese women with breast cancer		146880		CDC	2007	We have established a significant lack of HLA-DQA1 and -DQB1 association with breast cancer in southern Taiwanese women. The results of this study may provide information for further clarification of the etiology of breast cancer in this region.											
148721		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQA1	32713160	32722817		Alves-Leon, S. V.  et al. 2007	17489940				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Brazilian;European	Brazil	CDC GDP info	3117	Hs.387679			Acta Neurol Scand    2007    115(5)    306-11	Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients		146880		CDC	2007	Heterogeneous phenotypes occur in both Brazilian ethnic groups.											
148723		sarcoidosis tuberculosis	IMMUNE	IMM	Tuberculosis|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Dubaniewicz, A.  et al. 2007	17541908				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Pneumonol Alergol Pol    2007    75(1)    13-21	Analysis of occurrence of DRB and DQ alleles in sarcoidosis and tuberculosis from Northern Poland.		146880		CDC	2007	In summary, we identified associations of HLA class II alleles in SA and TB with expression pattern specific and different for each group.											
148724		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Stanevicha, V.  et al. 2007	17559688				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Arthritis Res Ther    2007    9(3)    R58	HLA Class II DR and DQ genotypes and haplotypes associated with rheumatic fever among clinically homogenous patients in children in Latvia		146880		CDC	2007												
148726		celiac disease diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Lie, B. A.  et al. 2007	17584581				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Hum Immunol    2007    68(7)    592-8	Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease		146880		CDC	2007												
148727		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ronningen, K. S.  et al. 2001	11685287				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetologia    2001    44(15)    B51-9	Correlations between the incidence of childhood-onset Type I diabetes in Europe and HLA genotypes		604305		CDC	2001												
148728		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ionescu-Tirgoviste, C.  et al. 2001	11685288				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetologia    2001    44(15)    B60-6	Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes		604305		CDC	2001												
148729		arthritis, rheumatoid Sjogren's syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Kacem, H. H.  et al. 2001	11752507				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Tunisian		CDC GDP info	3119	Hs.409934			Rheumatology (Oxford)    2001    40    1370-4	HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sj?gren's syndrome.		604305		CDC	2001	These data suggest the involvement of HLA-DQ CAR1/CAR2 polymorphisms in genetic susceptibility to RA and SS and the participation of the CTLA-4 gene, or a gene closely associated with it, in the development of RA.											
148731		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16405603				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Brazilian		CDC GDP info	3119	Hs.409934			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		604305		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
148732	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-DQB1	32735641	32742374			16409268				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Dermatol    2005    44(12)    1022-7	Association of HLA-DQA1 and DQB1 genes with vitiligo in Chinese Hans		604305		CDC	2005	HLA-DQA1*0302, -DQA1*0601, -DQB1*0303, and -DQB1*0503 alleles could be susceptible alleles of vitiligo, while HLA-DQA1*0501 allele could be a protective allele in Chinese Hans. There may be different genetic backgrounds between vitiligo patients of childhood and adult, localized and generalized.											
148734		cervical cancer	CANCER	CAN	Papillomavirus Infections|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16425277				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		China	CDC GDP info	3119	Hs.409934			Int J Cancer    2006	Polymorphic amino acids at codons 9 and 37 of HLA-DQB1 alleles may confer susceptibility to cervical cancer among Chinese women		604305		CDC	2006												
148735		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kudat, H.  et al. 2006	16426242				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Immunogenet    2006    33(1)    41-4	The role of HLA molecules in susceptibility to chronic rheumatic heart disease		604305		CDC	2006												
148736		thyroid cancer	CANCER	CAN	Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms|Goiter, Nodular|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Porto, T.  et al. 2006	16430717				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDP info	3119	Hs.409934			Clin Endocrinol (Oxf)    2006    64(2)    179-83	Association of HLA DQ4-DR8 haplotype with papillary thyroid carcinomas		604305		CDC	2006	We have typed the largest series of patients with thyroid carcinomas reported to date, and found that DR8 and DQ4 are independent susceptibility markers for PTC.											
148737	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Planelles, D.  et al. 2006	16433795				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Br J Dermatol    2006    154(2)    261-6	HLA class II polymorphisms in Spanish melanoma patients		604305		CDC	2006	Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population.		hair color									
148740	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wongsurawat, T.  et al. 2006	16451208				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian;Korean;Thai;Asian	Thailand	CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    67(1)    79-83	The association between HLA class II haplotype with Graves' disease in Thai population		604305		CDC	2006												
148741		vaccine response	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Ovsyannikova, I. G.  et al. 2006	16453260				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Infect Dis    2006    193(5)    655-63	Human leukocyte antigen haplotypes in the genetic control of immune response to measles-mumps-rubella vaccine		604305		CDC	2006												
148742		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Redondo, M. J.  et al. 2006	16464953				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Clin Endocrinol Metab    2006	Specific HLA DQ Influence on Expression of Anti-Islet Autoantibodies and Progression to Type 1 Diabetes		604305		CDC	2006	HLA DQ alleles determine autoantibody expression, which is correlated with diabetes progression.											
148743			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Hajjej, A.  et al. 2006	16473309				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Greek;Tunisian	Tunisia|Mediterranean Region	CDC GDP info	3119	Hs.409934			Eur J Med Genet    2006    49(1)    43-56	HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans		604305		CDC	2006												
148744	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Karinen, H.  et al. 2006	16484124				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish		CDC GDP info	3119	Hs.409934			Scand J Gastroenterol    2006    41(2)    191-9	Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease		604305		CDC	2006	Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet.											
148747		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16540751				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Italy	CDC GDP info	3119	Hs.409934			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		604305		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
148748	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sumnik, Z.  et al. 2006	16567828				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European		CDC GDP info	3119	Hs.409934			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		604305		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
148750	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Nunez, C.  et al. 2006	16579847				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			BMC Med Genet    2006    7(1)    32	Interleukin-10 haplotypes in Celiac Disease in the Spanish population		604305		CDC	2006												
148751	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Wang, H.  et al. 2006	16604509				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    238-9	With genechip technique to investigate HLA-DQB1 gene polymorphisms in south and north regions of China.		604305		CDC	2006	It is tested that HLA-DQB1*02, 05, 0601, 0602, 0603 gene frequencies are different obviously(P<0.05) between south and north Chinese. And those data will be useful to kinds of research associated with disease relevant and anthropology research.											
148752		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Ahmedov, G.  et al. 2006	16629714				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Czech Republic	CDC GDP info	3119	Hs.409934			Pediatr Diabetes    2006    7(2)    88-93	Genetic association of type 1 diabetes in an Azerbaijanian population		604305		CDC	2006	We bring the first report on both HLA, and non-HLA association of T1DM from the majority Azeri population of Azerbaijan.											
148754	N	birth weight diabetes, type 1 head circumference at birth	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease|Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Stene, L. C.  et al. 2006	16691379				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Norwegian	Norway	CDC GDP info	3119	Hs.409934			Diabetologia    2006	The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype		604305		CDC	2006	 In contrast to suggestions from previous indirect studies, direct adjustment for INS and HLA genotypes did not lead to a stronger relation between birthweight and the risk of type 1 diabetes.		birth weight									
148755		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Van Autreve, J. E.  et al. 2006	16698430				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Belgium	CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(1-2)    94-101	MICA is Associated with Type 1 Diabetes in the Belgian Population, Independent of HLA-DQ		604305		CDC	2006	MICA is associated with type 1 diabetes in the Belgian population and the observed association does not result from the HLA-DQ associated risk.											
148756		posttreatment Th2 immune response to S. mansoni Ags	INFECTION	INF	Schistosomiasis|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Booth, M.  et al. 2006	16709874				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Immunol    2006    176(11)    7112-8	Carriage of DRB1*13 Is Associated with Increased Posttreatment IgE Levels against Schistosoma mansoni Antigens and Lower Long-Term Reinfection Levels		604305		CDC	2006												
148758		testicular cancer	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, Large-cell, Diffuse|Testicular Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Riemersma, S. A.  et al. 2006	16720210				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(4-5)    303-10	The Relationship Between HLA Class II Polymorphisms and Somatic Deletions in Testicular B Cell Lymphomas of Dutch Patients		604305		CDC	2006												
148759		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	HLA-DQB1	32735641	32742374		Saruhan-Direskeneli, G.  et al. 2006	16720217				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Turkish	Turkey	CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(4-5)    352-8	HLA-DQ Polymorphism in Turkish Patients With Myasthenia Gravis		604305		CDC	2006												
148761	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|MuSK|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Niks, E. H.  et al. 2006	16769963				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Netherlands	CDC GDP info	3119	Hs.409934			Neurology    2006    66(11)    1772-4	Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5		604305		CDC	2006												
148762		vulvovaginal gingival syndrome	OTHER	OTH	Gingival Diseases|Vaginal Diseases|Vulvar Diseases|Lichen Planus|Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Setterfield, J. F.  et al. 2006	16781300				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Am Acad Dermatol    2006    55(1)    98-113	The vulvovaginal gingival syndrome		604305		CDC	2006	Early diagnosis of this distinct subgroup of lichen planus, combined with appropriate therapeutic measures, may help to minimize the significant physical and psychologic morbidity associated with this scarring disorder.											
148763	Y	diabetes, type 1 diabetes, type 2	METABOLIC	MET	Diabetes Mellitus	6	6p21.3	HLA-DQB1	32735641	32742374		Bakhtadze, E.  et al. 2006	16783473				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Sweden	CDC GDP info	3119	Hs.409934			Diabetologia    2006	HLA-DQB1 genotypes, islet antibodies and beta cell function in the classification of recent-onset diabetes among young adults in the nationwide Diabetes Incidence Study in Sweden		604305		CDC	2006	 Assessment of islet antibodies is necessary for the aetiological classification of diabetic patients. HLA-DQB1 genotyping does not improve the classification in patients with islet antibodies. However, in patients without islet antibodies, HLA-DQB1 genotyping together with C-peptide measurement may be of value in differentiating between idiopathic type 1 diabetes and type 2 diabetes.											
148764	Y	autoimmune response	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Jonson, C. O.  et al. 2006	16792673				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Clin Exp Immunol    2006    145(1)    48-55	The association of CTLA-4 and HLA class II autoimmune risk genotype with regulatory T cell marker expression in 5-year-old children		604305		CDC	2006												
148766		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Baccar Harrath, A.  et al. 2006	16799707				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Tunisian	Tunisia	CDC GDP info	3119	Hs.409934			Pathol Oncol Res    2006    12(2)    79-81	HLA Class II Polymorphism		604305		CDC	2006												
148767	N	peanut allergy	IMMUNE	IMM	Peanut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Shreffler, W. G.  et al. 2006	16802776				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Ann Allergy Asthma Immunol    2006    96(6)    865-9	Lack of association of HLA class II alleles with peanut allergy		604305		CDC	2006	We could not establish an association between the HLA class II alleles evaluated in this cohort of sibling pairs discordant for peanut allergy.											
148768	Y	cervical dysplasia H. pylori infection	INFECTION	INF	Papillomavirus Infections|Uterine Cervical Dysplasia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lema, C.  et al. 2006	16803516				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Vietnamese	Vietnam	CDC GDP info	3119	Hs.409934			Int J Gynecol Cancer    2006    16(3)    1269-77	Association between HLA-DQB1 and cervical dysplasia in Vietnamese women		604305		CDC	2006												
148769		celiac disease gluten intolerance	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ludvigsson, J. F.  et al. 2006	16803690				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Scand J Gastroenterol    2006    41(8)    919-28	Effect of HLA DQ2, dietary exposure and coeliac disease on the development of antibody response to gliadin in children		604305		CDC	2006	Enhanced humoral response emerging not only to gliadin, but also to other food antigens seems to be primarily associated with CD.											
148771			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Pedron, B.  et al. 2006	16829309				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European;French		CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(7)    540-50	HLA Alleles and Haplotypes in French North African Immigrants		604305		CDC	2006												
148773		Addison's disease	IMMUNE	IMM	Adrenal Insufficiency|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ghaderi, M.  et al. 2006	16849401				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Clin Endocrinol Metab    2006	MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency		604305		CDC	2006	Our study provides the first demonstration of the association of the polymorphism of the MHC2TA gene with genetic risk for AAD that appears to be independent from the well-known association with the polymorphism of HLA class II genes.											
148775		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Nunez, C.  et al. 2006	16865785			promoter	Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Spain	CDC GDP info	3119	Hs.409934			World J Gastroenterol    2006    12(27)    4397-400	A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population		604305		CDC	2006	The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 (-) patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients.											
148777			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Hajjej, A.  et al. 2006	16866885				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European;Moroccan;Tunisian		CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    68(2)    153-62	The contribution of HLA class I and II alleles and haplotypes to the investigation of the evolutionary history of Tunisians		604305		CDC	2006												
148779		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis|Disease Progression	6	6p21.3	HLA-DQB1	32735641	32742374		Warren, K. G.  et al. 2006	16879301				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Eur J Neurol    2006    13(8)    887-95	Intravenous synthetic peptide MBP8298 delayed disease progression in an HLA Class II-defined cohort of patients with progressive multiple sclerosis		604305		CDC	2006			MBP8298									
148780		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ogata, T.  et al. 2006	16879749				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Belgian;Canadian		CDC GDP info	3119	Hs.409934			BMC Med Genet    2006    7(1)    67	Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population		604305		CDC	2006	This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
148781		myasthenia gravis	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Yang, H.  et al. 2006	16883535				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    437-9	HLA-DQB1 allele polymorphism and clinical characteristics of 15 familial myasthenia gravis cases in north China.		604305		CDC	2006	The familial MG has distinctive clinical features.											
148782		duodenal ulcer	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Du, Y.  et al. 2006	16883536				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    440-2	A study on HLA-DQB1 allele associated with genetic susceptibility to duodenal ulcer in Guangdong Hans.		604305		CDC	2006	These findings suggest that HLA-DQB1*0602 is a susceptible gene to duodenal ulcer in Guangdong Hans of China. And at HLA-DQB1 site, there are immunogenetic differences between duodenal ulcer patients and healthy controls.											
148784	Y	nasal polyposis	OTHER	OTH	Nasal Polyps|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Fajardo-Dolci, G.  et al. 2006	16890076				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Otolaryngol Head Neck Surg    2006    135(2)    243-7	DQA1 and DQB1 association and nasal polyposis		604305		CDC	2006	HLA-DQA1*0201-DQB1*0201 haplotype is involved in susceptibility, conferring 5.53 times more risk of developing this disease. EBM rating: B-2b.											
148786		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6	6p21.3	HLA-DQB1	32735641	32742374		Deitiker, P. R.  et al. 2006	16891216				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Autoimmunity    2006    39(4)    277-88	Subtle differences in HLA DQ haplotype-associated presentation of AChR alpha-chain peptides may suffice to mediate myasthenia gravis		604305		CDC	2006												
148787		hepatitis B, chronic	INFECTION	INF	Hepatitis B|Hepatitis B, Chronic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Xi-Lin, Z.  et al. 2006	16893387				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Immunogenet    2006    33(4)    249-254	Analysis of HLA-DQB1 gene polymorphisms in asymptomatic HBV carriers and chronic hepatitis B patients in the Chinese Han population		604305		CDC	2006												
148788	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive	6	6p21.3	HLA-DQB1	32735641	32742374		Barcellos, L. F.  et al. 2006	16905561				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Mol Genet    2006	Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis		604305		CDC	2006	derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner.											
148789		birth weight	METABOLIC	MET	Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Taylor, G. M.  et al. 2006	16911023				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Paediatr Perinat Epidemiol    2006    20(5)    438-48	Interactions between fetal HLA-DQ alleles and maternal smoking influence birthweight		604305		CDC	2006			smoking (tobacco), maternal									
148791	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lombard, Z.  et al. 2006	16916662				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(8)    643-54	Association of HLA-DR, -DQ, and Vitamin D Receptor Alleles and Haplotypes with Tuberculosis in the Venda of South Africa		604305		CDC	2006	common African HLA-DRB1 and -DQB1 variants, previously associated with protection from malaria and hepatitis B/C virus persistence, predispose the Venda to TB, whereas the proposedly active VDR haplotype F-b-A-T showed significant protection.											
148793		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Donaldson, P. T.  et al. 2006	16941709	DEFB4  CNV			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian	Great Britain|Italy	CDC GDP info	3119	Hs.409934			Hepatology    2006    44(3)    667-674	HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis		604305		CDC	2006	a complex relationship exists between HLA and PBC, and some genetic associations may be population specific.											
148794		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dunne, C.  et al. 2006	16948649				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European;Irish		CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    68(3)    257-62	Human leucocyte antigen class II polymorphism in Irish patients with multiple sclerosis		604305		CDC	2006												
148795	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Buc, M.  et al. 2006	16964961				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Endocr Regul    2006    40(1)    1-6	Associations between HLA class II alleles and type 1 diabetes mellitus in the Slovak population		604305		CDC	2006												
148797		Pigeon breeders disease	OTHER	OTH		6	6p21.3	HLA-DQB1	32735641	32742374		Melo, N.  et al. 2005	16969536				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Rev Port Pneumol    2005    11(6 Suppl 1)    29	HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).		604305		CDC	2005	A significant increase of one HLA - DRB1*13 allele and one HLA - DQB1*03 allele, in the EAA, are already reported. The association of EAA and the decrease of the HLA - DRB1*08 and -DQB*04 alleles are also noticed. The high values of OR, that suggest an increased susceptibility to develop AAE, will need to be confirmed with larger samples.											
148798	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Almawi, W. Y.  et al. 2006	16988007				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Clin Vaccine Immunol    2006    13(11)    1296-8	Association of selective HLA class II susceptibility-conferring and protective haplotypes with type 2 diabetes in patients from Bahrain and Lebanon		604305		CDC	2006												
148799		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gombos, Z.  et al. 2006	17002902				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish	Finland	CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(9)    714-21	Human Leukocyte Antigen Non-Class II Determinants for Type 1 Diabetes in the Finnish Population		604305		CDC	2006												
148800	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Roh, E. Y.  et al. 2006	17002906				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese;Korean	Korea	CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(9)    749-55	Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects		604305		CDC	2006												
148802			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Tracey, M. C.  et al. 2006	17026464				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	New Zealand		CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    68(4)    297-302	Class II HLA allele polymorphism		604305		CDC	2006												
148803	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Deja, G.  et al. 2006	17047287				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Mediators Inflamm    2006    2006(4)    19724	Is the Association Between TNF-alpha-308 A Allele and DMT1 Independent of HLA-DRB1, DQB1 Alleles?		604305		CDC	2006												
148805		alopecia areata	IMMUNE	IMM	Alopecia Areata	6	6p21.3	HLA-DQB1	32735641	32742374		Xiao, F. L.  et al. 2006	17062033				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Eur Acad Dermatol Venereol    2006    20(10)    1207-13	Association of HLA haplotype with alopecia areata in Chinese Hans		604305		CDC	2006	This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA.											
148806		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DQB1	32735641	32742374		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		604305		CDC	2006												
148807	N	pancreatitis, autoimmune	IMMUNE	IMM	Pancreatitis|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Ota, M.  et al. 2006	17119950				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Immunogenetics    2006	Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis		604305		CDC	2006												
148808		Brugada syndrome	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Himmunngan, P.  et al. 2006	17124999				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Thai		CDC GDP info	3119	Hs.409934			Southeast Asian J Trop Med Public Health    2006    37(2)    357-65	HLa-class II (DRB & DQB1) in Thai sudden unexplained death syndrome (Thai SUDS) families (Lai-Tai families)		604305		CDC	2006												
148809		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rodriguez-Perez, J. M.  et al. 2006	17126830				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican		CDC GDP info	3119	Hs.409934			Exp Mol Pathol    2006	MHC class II genes in Mexican patients with idiopathic dilated cardiomyopathy		604305		CDC	2006												
148810	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Garcia, D.  et al. 2006	17129633				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetes Res Clin Pract    2006	VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile		604305		CDC	2006	We found an association between a VDR polymorphism (BsmI) and type 1 diabetes.											
148812		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kawabata, Y.  et al. 2006	17130566				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Ann N Y Acad Sci    2006    1079    278-84	A Second Component of HLA-Linked Susceptibility to Type 1 Diabetes Maps to Class I Region		604305		CDC	2006												
148814	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Desai, M.  et al. 2006	17143607				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European;Irish		CDC GDP info	3119	Hs.409934			Diabetologia    2006	An association analysis of the HLA gene region in latent autoimmune diabetes in adults		604305		CDC	2006	 Patterns of susceptibility at the HLA-DRB1 and HLA-DQB1 loci in LADA are similar to those reported for type 1 diabetes, supporting the hypothesis that autoimmune diabetes occurring in adults is an age-related extension of the pathophysiological process presenting as childhood-onset type 1 diabetes.											
148815		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Ali, A. A.  et al. 2006	17144392				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Pak Med Assoc    2006    56(10)    452-6	Polymorphism of HLA-DR and HLA-DQ in rheumatoid arthritis patients and clinical response to methotrexate--a hospital-based study		604305		CDC	2006	RA susceptibility in most Pakistani patients is associated with the HLA-DRB1*01/DQB1*06 genotype. HLA-DRB1*03 was found to be significantly more common among non-responders to MTX treatment suggesting that Pakistani patients with this genotype are less likely to benefit from MTX.		methotrexate									
148816		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Saad, A. H.  et al. 2006	17153701				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors		604305		CDC	2006												
148817		sleep disorders	OTHER	OTH	Disorders of Excessive Somnolence|Narcolepsy|Cataplexy	6	6p21.3	HLA-DQB1	32735641	32742374		Hong, S. C.  et al. 2006	17162989				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Sleep    2006    29(11)    1429-38	A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness		604305		CDC	2006	The ICSD-2 was easily applicable in cases with typical cataplexy. In these cases, the MSLT and further evaluations were almost always positive and may thus not always be needed. Many patients without cataplexy were difficult to classify because of difficulties in interpreting the MSLT in the presence of sleep apnea or reduced sleep.											
148818		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Gulati, S.  et al. 2006	17180363				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian		CDC GDP info	3119	Hs.409934			Pediatr Nephrol    2006	Is typing for HLA class II alleles beneficial in Indian children with idiopathic nephrotic syndrome?		604305		CDC	2006	HLA typing in Indian children with NS helps to predict relapse frequency and steroid resistance.											
148820		gastritis stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Gastritis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Herrera-Goepfert, R.  et al. 2006	17203517				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Mexican	Mexico	CDC GDP info	3119	Hs.409934			World J Gastroenterol    2006    12(48)    7762-7	Role of the HLA-DQ locus in the development of chronic gastritis and gastric carcinoma in Mexican patients		604305		CDC	2006	HLA-DQ locus may play a different role in the development of H pylori-related chronic gastritis and diffuse-type gastric adenocarcinoma in the Mexican Mestizo population.											
148821		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hong, S. C.  et al. 2007	17207713				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Japanese;Caucasian;European;Korean		CDC GDP info	3119	Hs.409934			Hum Immunol    2007    68(1)    59-68	DQB1*0301 and DQB1*0601 Modulate Narcolepsy Susceptibility in Koreans		604305		CDC	2007												
148822		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Juhn, Y. J.  et al. 2007	17212706				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(1)    38-46	Childhood asthma and human leukocyte antigen type		604305		CDC	2007												
148823		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-DQB1	32735641	32742374		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		604305		CDC	2007			measles vaccine									
148825		multiple sclerosis narcolepsy	IMMUNE	IMM	Multiple Sclerosis|Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rubio, J. P.  et al. 2007	17256150				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Immunogenetics    2007    59(3)    177-86	Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients		604305		CDC	2007												
148826		diabetes, type 1 diabetes, type 2	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Haller, K.  et al. 2007	17257313				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(2)    121-7	Insulin gene VNTR, CTLA-4 +49A/G and HLA-DQB1 alleles distinguish latent autoimmune diabetes in adults from type 1 diabetes and from type 2 diabetes group		604305		CDC	2007												
148828	N	Fuchs heterochromic cyclitis	IMMUNE	IMM	Iridocyclitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Spriewald, B. M.  et al. 2007	17287608				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Ophthalmic Res    2007    39(2)    116-120	A Suggestive Association of Fuchs Heterochromic Cyclitis with Cytotoxic T Cell Antigen 4 Gene Polymorphism		604305		CDC	2007	CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.											
148829		cataplexy narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy	6	6p21.3	HLA-DQB1	32735641	32742374		Jeong, J. H.  et al. 2007	17297265				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDP info	3119	Hs.409934			J Korean Med Sci    2007    22(1)    127-31	HLA-DQB1 Allele and Hypocretin in Korean Narcoleptics with Cataplexy		604305		CDC	2007												
148830		ulcerative colitis	IMMUNE	IMM	Cholangitis, Sclerosing|Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Karlsen, T. H.  et al. 2007	17301827				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European;Norwegian;Scandinavian		CDC GDP info	3119	Hs.409934			Genes Immun    2007	Different HLA class II associations in ulcerative colitis patients with and without primary sclerosing cholangitis		604305		CDC	2007												
148832	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Brick, C.  et al. 2007	17306585				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	French;Italian;Moroccan;Portuguese;Sardinian;Tunisian		CDC GDP info	3119	Hs.409934			Transfus Clin Biol    2007	HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population		604305		CDC	2007	Our results confirm and extend the current knowledge about the Moroccan genetic pattern and reflect all the ethnic diversity of the country.											
148834		cervical cancer	CANCER	CAN	Carcinoma|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wu, Y.  et al. 2007	17311339				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Med Virol    2007    79(4)    439-446	HPV16 E6 variants and HLA class II polymorphism among Chinese women with cervical cancer		604305		CDC	2007			human papillomavirus									
148835		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Katarina, K.  et al. 2007	17318773				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Exp Clin Endocrinol Diabetes    2007    115(2)    124-9	HLA, NFKB1 and NFKBIA Gene Polymorphism Profile in Autoimmune Diabetes Mellitus Patients		604305		CDC	2007												
148836		paracoccidioidomycosis	INFECTION	INF	Paracoccidioidomycosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sadahiro, A.  et al. 2007	17325942				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Med Mycol    2007    45(1)    35-40	Generic human leukocyte antigen class II (DRB1 and DQB1) alleles in patients with paracoccidioidomycosis		604305		CDC	2007												
148837		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Schmidt, H.  et al. 2007	17329717				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian;European		CDC GDP info	3119	Hs.409934			Am J Epidemiol    2007	HLA-DR15 Haplotype and Multiple Sclerosis		604305		CDC	2007												
148839		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Bourgey, M. M.  et al. 2007	17344279				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Italian		CDC GDP info	3119	Hs.409934			Gut    2007	HLA-related genetic risk for coeliac disease		604305		CDC	2007	These results make it possible to provide more accurate information to parents with a child with CD about the real risk for another child.											
148840		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wu, Y.  et al. 2007	17349874				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2007    68(3)    192-200	Human Leukocyte Antigen Class II Alleles and Risk of Cervical Cancer in China		604305		CDC	2007												
148842		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DQB1	32735641	32742374		Petersdorf, E. W.  et al. 2007	17378697				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			PLoS Med    2007    4(1)    e8	MHC haplotype matching for unrelated hematopoietic cell transplantation		604305		CDC	2007	The MHC harbors genes that encode unidentified transplantation antigens.											
148843		cervical cancer	CANCER	CAN	Papillomavirus Infections|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Chan, P. K.  et al. 2007	17379283				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Chinese;European;Asian		CDC GDP info	3119	Hs.409934			Gynecol Oncol    2007	HLA-DQB1 polymorphisms and risk for cervical cancer		604305		CDC	2007	The host genetics and the distribution of HPV types/variants may account for the observed differences among southern Chinese and other populations.		human papillomavirus									
148844		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	6p21.3	HLA-DQB1	32735641	32742374		Amirzargar, A. A.  et al. 2007	17387388				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Iranian	Iran	CDC GDP info	3119	Hs.409934			Pathol Oncol Res    2007    13(1)    47-51	Association of HLA Class II Allele and Haplotype Frequencies with Chronic Myelogenous Leukemia and Age-at-Onset of the Disease		604305		CDC	2007	it is suggested that positive and negative association in certain HLA alleles and haplotypes exist in Iranian patients with CML.											
148845		physiologic constitutions, Traditional Chinese Med. Defined	NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Chen, S.  et al. 2007	17388766				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Altern Complement Med    2007    13(2)    231-240	HLA Class II Polymorphisms Associated with The Physiologic Characteristics Defined by Traditional Chinese Medicine		604305		CDC	2007	This was the first study to systematically investigate the relationship between HLA and TCM constitution using a high-resolution typing technique. The results suggested a genetic basis for the classification of physical constitution in TCM. This study laid the foundation, for the first time ever, toward gaining insight into the theory of traditional medicine using modern biological approaches.											
148846		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Harbo, H. F.  et al. 2007	17389012				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Norwegian		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(4)    299-304	Low frequency of the disease-associated DRB1*15-DQB1*06 haplotype may contribute to the low prevalence of multiple sclerosis in Sami		604305		CDC	2007												
148848		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Frezza, D.  et al. 2007	17392350				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Ann Rheum Dis    2007	Polymorphism of immunoglobulin (Ig) enhancer element HS1,2A		604305		CDC	2007	These data confirm the hypothesis of an increased risk of having SSc in carriers of the allele *2, suggesting an intriguing function of this polymorphism for the B cell regulation.											
148849		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Graham, R. R.  et al. 2007	17406641				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	European		CDC GDP info	3119	Hs.409934			Eur J Hum Genet    2007	Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE		604305		CDC	2007												
148850		birth weight gestational infections	INFECTION	INF	Infection|Gastroenteritis|Pregnancy Complications|Diabetes Mellitus, Type 1|Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Larsson, H. E.  et al. 2007	17406854				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetologia    2007	Relationship between increased relative birthweight and infections during pregnancy in children with a high-risk diabetes HLA genotype		604305		CDC	2007	 This study revealed that: (1) gestational fever, gastroenteritis, or both, increased the risk of HrBW; (2) cord blood islet autoantibodies decreased the risk of HrBW only in combination with infections; and (3) infections aggravated the association between HLA-DQ2/8 and HrBW. These data suggest an interaction between HLA, gestational infections, islet autoantibodies and fetal growth.											
148851	Y	hypertension, pulmonary arterial	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Yoon, S. H.  et al. 2007	17406941				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDP info	3119	Hs.409934			Lung    2007	Association of HLA Class II Genes with Idiopathic Pulmonary Arterial Hypertension in Koreans		604305		CDC	2007												
148852		vitiligo	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Wang, J.  et al. 2007	17407088				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    221-3	Association of HLA class I and II alleles with generalized vitiligo in Chinese Hans in north China.		604305		CDC	2007	These alleles positively associated with generalized vitiligo in Chinese Han patients in north China, might provide clues to reveal the susceptibility gene(s) of vitiligo in Chinese and as well as the immunnogenetic mechanisms of disease.		family history									
148854		leukemia lymphoma	CANCER	CAN	HTLV-I Infections	6	6p21.3	HLA-DQB1	32735641	32742374		Goedert, J. J.  et al. 2007	17437273				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int J Cancer    2007	Risk of human T-lymphotropic virus type I-associated diseases in Jamaica with common HLA types		604305		CDC	2007												
148855			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Voorter, C. E.  et al. 2007	17445172				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian;Korean		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69 Suppl 1    76-81	Sequence-based typing of HLA-DQA1		604305		CDC	2007												
148857	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Leffell, M. S.  et al. 2007	17460569				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Transplantation    2007    83(7)    964-972	Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility		604305		CDC	2007	The noted improvements in HLA definition and the overall lack of significant deviation from HWE indicate the accuracy of these HLA frequencies.											
148858		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Rajasalu, T.  et al. 2007	17461431				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetes Metab Res Rev    2007	Insulin VNTR I/III genotype is associated with autoantibodies against glutamic acid decarboxylase in newly diagnosed type 1 diabetes		604305		CDC	2007	The association between the INS VNTR I/III genotype and GADA may suggest that in patients with T1D lacking the INS VNTR I/I genotype, the effect of other susceptibility factors prevails, which promotes the development of autoimmunity to beta-cell antigens other than insulin. Copyright (c) 2007 John Wiley & Sons, Ltd.											
148860		hepatitis C sicca syndrome	INFECTION	INF	Hepatitis C, Chronic|Sjogren's Syndrome	6	6p21.3	HLA-DQB1	32735641	32742374		Smyth, C. M.  et al. 2007	17489060				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Eur J Gastroenterol Hepatol    2007    19(6)    493-498	Chronic hepatitis C infection and sicca syndrome		604305		CDC	2007	The development of autoimmune disease in patients with chronic hepatitis C virus infection depends on the interaction of multiple factors.											
148862		osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal	6	6p21.3	HLA-DQB1	32735641	32742374		Douroudis, K.  et al. 2007	17498269				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Greek		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(6)    592-6	HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population		604305		CDC	2007												
148863		anti-islet autoantibodies diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Baschal, E. E.  et al. 2007	17513705				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetes    2007	HLA-DPB1*0402 Protects Against Type 1A Diabetic Autoimmunity in the Highest Risk DR3-DQB1*0201/DR4-DQB1*0302 DAISY Population		604305		CDC	2007	The ability to identify a major group of general population newborns with a 20% risk of anti-islet autoimmunity should enhance both studies of the environmental determinants of type 1A diabetes and the design of trials for the primary prevention of anti-islet autoimmunity.											
148865		human papilloma virus/HPV	INFECTION	INF	Papillomavirus Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Mahmud, S. M.  et al. 2007	17538887				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Infect Dis    2007    196(1)    82-90	HLA Polymorphisms and Cervical Human Papillomavirus Infection in a Cohort of Montreal University Students		604305		CDC	2007	The results of this study support the hypothesis that certain HLA class II polymorphisms mediate genetic susceptibility to the acquisition of HPV infection.											
148866		sarcoidosis tuberculosis	IMMUNE	IMM	Tuberculosis|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Dubaniewicz, A.  et al. 2007	17541908				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Pneumonol Alergol Pol    2007    75(1)    13-21	Analysis of occurrence of DRB and DQ alleles in sarcoidosis and tuberculosis from Northern Poland.		604305		CDC	2007	In summary, we identified associations of HLA class II alleles in SA and TB with expression pattern specific and different for each group.											
148867		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kawase, T.  et al. 2007	17554059				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		604305		CDC	2007												
148868		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Voorter, C. E.  et al. 2007	17559577				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    70(1)    18-27	HLA class II amino acid epitopes as susceptibility markers of sarcoidosis		604305		CDC	2007	pocket 9 of DQ and pocket 4 of DR seem to be the most important areas involved in the association with sarcoidosis.											
148870		alveolar echinococcosis	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Aydinli, B.  et al. 2007	17573956				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Turkish		CDC GDP info	3119	Hs.409934			Hepatol Res    2007	Association between hepatic alveolar echinococcosis and frequency of human leukocyte antigen class I and II alleles in Turkish patients		604305		CDC	2007	The present study indicates that susceptibility to HAE in the Turkish population is essentially HLA class II and poorly class I mediated, with HLA-26, and DRB1*015, DQB1* 02, 06, 07 with more allele distribution in the patient group. Our results are not similar to those of other studies, but contribute to the discussions on the association of HLA class I and class II alleles with AE.											
148871		narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy	6	6p21.3	HLA-DQB1	32735641	32742374		Quinnell, T. G.  et al. 2007	17576097				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Sleep Med    2007	Screening the human prepro-orexin gene in a single-centre narcolepsy cohort		604305		CDC	2007	This result supports existing evidence which indicates that mutations of the prepro-orexin gene are rare and that the genetic contribution to the aetiology of human narcolepsy is likely to be complex.											
148872		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Gundogdu, F.  et al. 2007	17578051				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Heart Valve Dis    2007    16(3)    293-9	Human leukocyte antigen (HLA) class I and II alleles in Turkish patients with rheumatic heart disease		604305		CDC	2007	Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.											
148873		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Rehman, S.  et al. 2007	17578052				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Heart Valve Dis    2007    16(3)    300-4	Human leukocyte antigen (HLA) class II association with rheumatic heart disease in Pakistan		604305		CDC	2007	These results show that HLA-DRB1*07, associated with RHD in various world populations, is also associated with RHD in the Pakistani population. The validation of HLA associations with RHD, which is observed in different world populations, may lead to the development of a cost-effective strategy in the primary prevention of this disease.											
148874		celiac disease diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lie, B. A.  et al. 2007	17584581				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2007    68(7)    592-8	Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease		604305		CDC	2007												
148876		dermatomyositis myopathy, idiopathic inflammatory polymyositis	IMMUNE	IMM	Myositis|Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Chinoy, H.  et al. 2007	17586554				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDP info	3119	Hs.409934			Rheumatology (Oxford)    2007	Tumour necrosis factor-{alpha} single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies		604305		CDC	2007												
148877	Y	hypothyroidism, goitrous juvenile autoimmune	IMMUNE	IMM	Graves Disease|Hypothyroidism|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		L, R. P.  et al. 2007	17588142				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian		CDC GDP info	3119	Hs.409934			J Clin Immunol    2007	Association of HLA DQ B1(*) and HLA DR B1 (*) Alleles with Goitrous Juvenile Autoimmune Hypothyroidism-A Case Control Study		604305		CDC	2007												
148878		Meniere's disease	OTHER	OTH	Hearing Loss, Sensorineural|Meniere Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lopez-Escamez, J. A.  et al. 2007	17592398				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Spanish;European		CDC GDP info	3119	Hs.409934			Otol Neurotol    2007	HLA-DRB1*1101 Allele May Be Associated With Bilateral Meniere's Disease in Southern European Population		604305		CDC	2007	The allele HLA-DRB1*1101 and the allelic group HLA-DRB1*11 may determine an increased susceptibility to develop bilateral MD in a southern European population.											
148879	Y	cataract glaucoma retinal detachment visual acuity Vogt-Koyanagi-Harada syndrome	VISION	VIS		6	6p21.3	HLA-DQB1	32735641	32742374		Min, H. Y.  et al. 2007	17605936				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yan Ke Za Zhi    2007    43(4)    355-60	Polymorphism of HLA-DQB1 alleles in Chinese Han patients with Vogt-Koyanagi-Harada syndrome.		604305		CDC	2007	(1) Alleles of HLA-DQB1*0401 and HLA-DQB1*0303 are susceptible to VKH. HLA-DQB1*0601 and HLA-DQB1*0302 are resistant to VKH. This is the first report that associates HLA-DQB1*0302 with resistant of VKH. (2) PCR-SSP is a rapid method for typing the HLA-DQB1 alleles and can be used routinely.											
148881		diabetes, type 1	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ionescu-Tirgoviste, C.  et al. 2001	11685288				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Diabetologia    2001    44(15)    B60-6	Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes		142857		CDC	2001												
148882	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Moscoso, J.  et al. 2006	16337001				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish;Indian;Peruvian;Asian		CDC GDP info	3123	Hs.534322			Mol Immunol    2006    43(11)    1881-9	HLA genes in Lamas Peruvian-Amazonian Amerindians		142857		CDC	2006												
148884		cognitive ability	PSYCH	PSY		6	6p21.3	HLA-DRB1	32593131	32665559			16417614				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Genes Brain Behav    2006    5 Suppl 1    23-31	Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population		142857		CDC	2006												
148885		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16420246				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian;European		CDC GDP info	3123	Hs.534322			Pigment Cell Res    2006    19(1)    51-7	HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset		142857		CDC	2006												
148886		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kudat, H.  et al. 2006	16426242				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Int J Immunogenet    2006    33(1)    41-4	The role of HLA molecules in susceptibility to chronic rheumatic heart disease		142857		CDC	2006												
148887		thyroid cancer	CANCER	CAN	Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms|Goiter, Nodular|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Porto, T.  et al. 2006	16430717				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			Clin Endocrinol (Oxf)    2006    64(2)    179-83	Association of HLA DQ4-DR8 haplotype with papillary thyroid carcinomas		142857		CDC	2006	We have typed the largest series of patients with thyroid carcinomas reported to date, and found that DR8 and DQ4 are independent susceptibility markers for PTC.											
148889		hepatitis C	INFECTION	INF	Hepatitis C	6	6p21.3	HLA-DRB1	32593131	32665559		Hong, X.  et al. 2005	16437632				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			World J Gastroenterol    2005    11(46)    7302-7	Human leukocyte antigen class II DQB1*0301, DRB1*1101 alleles and spontaneous clearance of hepatitis C virus infection		142857		CDC	2005	These results support the hypothesis that specific HLA class II alleles might influence the susceptibility or resistance to persistent HCV infection.											
148890	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Liu, Y.  et al. 2006	16441488				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    67(2)    157-9	Polymorphism of HLA class II genes in Miao and Yao nationalities of Southwest China		142857		CDC	2006												
148891	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wongsurawat, T.  et al. 2006	16451208				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian;Korean;Thai;Asian	Thailand	CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    67(1)    79-83	The association between HLA class II haplotype with Graves' disease in Thai population		142857		CDC	2006												
148892		vaccine response	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2006	16453260				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Infect Dis    2006    193(5)    655-63	Human leukocyte antigen haplotypes in the genetic control of immune response to measles-mumps-rubella vaccine		142857		CDC	2006												
148893	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Deng, Y.  et al. 2006	16456803				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		China	CDC GDP info	3123	Hs.534322			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    103-6	HLA-A, B, DRB1 gene polymorphism of Beijing population was studied by high-resolution polymerase chain reaction sequence-based typing.		142857		CDC	2006	The results showed the characteristics of HLA-A, B, DRB1 distributions, and provided more comprehensive and accurate gene data that may serve as normal reference values for all of Beijing people.											
148895		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Harrison, P.  et al. 2006	16490755				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			Rheumatology (Oxford)    2006	Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients		142857		CDC	2006	We confirmed the previously reported association of PTPN22 with RF-positive RA, which was independent from the HLA-DRB1 genotype.											
148896		myositis	IMMUNE	IMM	Dermatomyositis|Lung Diseases, Interstitial	6	6p21.3	HLA-DRB1	32593131	32665559		Chinoy, H.  et al. 2005	16507114				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			Arthritis Res Ther    2005    8(1)    R13	In adult onset myositis, the presence of interstitial lung disease and myositis specific/associated antibodies are governed by HLA class II haplotype, rather than by myositis subtype		142857		CDC	2005	these findings support the notion that myositis patients with differing myositis serology have different immunogenetic profiles, and that these profiles may define specific myositis subtypes.											
148897		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16540751				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Italy	CDC GDP info	3123	Hs.534322			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		142857		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
148899		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Koskinen, W. J.  et al. 2006	16573562				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish		CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    67(3)    237-40	HLA-DRB1, -DQB1 alleles in head and neck carcinoma patients		142857		CDC	2006												
148900	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Wang, Q.  et al. 2006	16604510				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    240-1	Analysis of HLA-DRB1 allele polymorphism in the Fujian Han nationality population of China.		142857		CDC	2006	The HLA-DRB1 distribution of Fujian Han population shares some genetic characters with southern Chinese Han populations, but these characters differ from northern Chinese populations.											
148901		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Syndrome|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Bogunia-Kubik, K.  et al. 2006	16611259				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Polish		CDC GDP info	3123	Hs.534322			Int J Immunogenet    2006    33(2)    135-40	HSP70-hom gene single nucleotide (+2763 G/A and +2437 C/T) polymorphisms in sarcoidosis		142857		CDC	2006	HSP(+2437)-C allele was found as a factor associating with susceptibility to sarcoidosis and LS.											
148902		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Ahmedov, G.  et al. 2006	16629714				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Czech Republic	CDC GDP info	3123	Hs.534322			Pediatr Diabetes    2006    7(2)    88-93	Genetic association of type 1 diabetes in an Azerbaijanian population		142857		CDC	2006	We bring the first report on both HLA, and non-HLA association of T1DM from the majority Azeri population of Azerbaijan.											
148903		Graves' disease	IMMUNE	IMM	Graves Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hodge, S. E.  et al. 2006	16646680				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			Thyroid    2006    16(4)    351-5	Possible Interaction Between HLA-DRbeta1 and Thyroglobulin Variants in Graves' Disease		142857		CDC	2006												
148905	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Farjadian, S.  et al. 2006	16712649				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Int J Immunogenet    2006    33(3)    185-91	HLA class II gene polymorphism in Parsees and Zoroastrians of Iran		142857		CDC	2006												
148906		testicular cancer	CANCER	CAN	Lymphoma, B-Cell|Lymphoma, Large-cell, Diffuse|Testicular Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Riemersma, S. A.  et al. 2006	16720210				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(4-5)    303-10	The Relationship Between HLA Class II Polymorphisms and Somatic Deletions in Testicular B Cell Lymphomas of Dutch Patients		142857		CDC	2006												
148908		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lu, L. P.  et al. 2006	16733891				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    134-42	Association of polymorphisms of human leucocyte antigen -DRB1 and -DQA1 allele with outcomes of hepatitis B virus infection in Han population of north China		142857		CDC	2006	The subjects with HLA-DQA1 * 0302 allele have an increased risk to chronic HB infection compared with other subjects without this allele, while HLA-DQA1 * 0301 and HLA-DQA1 * 0102 are associated with HBV clearness. Gene-environment interaction can affect the outcomes of HBV infection.		alcohol smoking (tobacco)									
148909		Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kula, D.  et al. 2006	16756466				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Thyroid    2006    16(5)    447-53	Interaction of HLA-DRB1 Alleles with CTLA-4 in the Predisposition to Graves' Disease		142857		CDC	2006	Our results stress the importance of complex gene interactions in the multigene predisposition to GD.											
148911		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Shawkatova, I.  et al. 2006	16796128				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Bratisl Lek Listy    2006    107(3)    76-9	HLA class II allele frequencies in type 1A diabetes mellitus Slovak patients		142857		CDC	2006	Our results, consistent with other studies, show increased frequencies of known positively associated HLA class II alleles in our type 1A diabetes mellitus patients compared to the general (nondiabetic) population.											
148912		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Baccar Harrath, A.  et al. 2006	16799707				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Tunisian	Tunisia	CDC GDP info	3123	Hs.534322			Pathol Oncol Res    2006    12(2)    79-81	HLA Class II Polymorphism		142857		CDC	2006												
148913	N	peanut allergy	IMMUNE	IMM	Peanut Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Shreffler, W. G.  et al. 2006	16802776				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann Allergy Asthma Immunol    2006    96(6)    865-9	Lack of association of HLA class II alleles with peanut allergy		142857		CDC	2006	We could not establish an association between the HLA class II alleles evaluated in this cohort of sibling pairs discordant for peanut allergy.											
148914		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	6	6p21.3	HLA-DRB1	32593131	32665559		Torn, C.  et al. 2006	16829307				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(7)    527-34	Polymorphisms of TNF microsatellite marker a and HLA-DR-DQ in diabetes mellitus-a study in 609 Swedish subjects		142857		CDC	2006												
148915	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Pedron, B.  et al. 2006	16829309				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European;French		CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(7)    540-50	HLA Alleles and Haplotypes in French North African Immigrants		142857		CDC	2006												
148916	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Morgan, A. W.  et al. 2006	16846526				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Arthritis Res Ther    2006    8(4)    R109	Association of FCGR2A and FCGR2A-FCGR3A haplotypes with susceptibility to giant cell arteritis		142857		CDC	2006												
148918		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Reinders, J.  et al. 2006	16857416				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Oral Oncol    2006	HLA and MICA associations with head and neck squamous cell carcinoma		142857		CDC	2006												
148919	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Garcia-Ortiz, J. E.  et al. 2006	16866883				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian;Mexican		CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		142857		CDC	2006												
148921		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Favorova, O. O.  et al. 2006	16872485				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Russian		CDC GDP info	3123	Hs.534322			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		142857		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
148922		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Granados, J.  et al. 2006	16875346				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian;Mexican		CDC GDP info	3123	Hs.534322			Gac Med Mex    2006    142(3)    195-9	Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population		142857		CDC	2006												
148923		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Warren, K. G.  et al. 2006	16879301				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Eur J Neurol    2006    13(8)    887-95	Intravenous synthetic peptide MBP8298 delayed disease progression in an HLA Class II-defined cohort of patients with progressive multiple sclerosis		142857		CDC	2006			MBP8298									
148925		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Lu, L.  et al. 2006	16883532				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    427-30	Association of haplotype formed on HLA-DRB1 and HLA-DQA1 alleles with outcomes of hepatitis B virus infection.		142857		CDC	2006	Individuals with different haplotypes composed of HLA-DRB1 and HLA-DQA1 might have different outcomes of HBV infection.											
148927	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive	6	6p21.3	HLA-DRB1	32593131	32665559		Barcellos, L. F.  et al. 2006	16905561				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Mol Genet    2006	Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis		142857		CDC	2006	derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner.											
148928	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lombard, Z.  et al. 2006	16916662				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(8)    643-54	Association of HLA-DR, -DQ, and Vitamin D Receptor Alleles and Haplotypes with Tuberculosis in the Venda of South Africa		142857		CDC	2006	common African HLA-DRB1 and -DQB1 variants, previously associated with protection from malaria and hepatitis B/C virus persistence, predispose the Venda to TB, whereas the proposedly active VDR haplotype F-b-A-T showed significant protection.											
148929		leprosy	INFECTION	INF	Leprosy	6	6p21.3	HLA-DRB1	32593131	32665559		Tosh, K.  et al. 2006	16923796				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Mol Genet    2006	Variation In MICA And MICB Genes And Enhanced Susceptibility To Paucibacillary Leprosy In South India		142857		CDC	2006												
148930		cirrhosis, biliary primary	UNKNOWN	UNK	Liver Cirrhosis, Biliary|Disease Progression|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Donaldson, P. T.  et al. 2006	16941709				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Italian	Great Britain|Italy	CDC GDP info	3123	Hs.534322			Hepatology    2006    44(3)    667-674	HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis		142857		CDC	2006	a complex relationship exists between HLA and PBC, and some genetic associations may be population specific.											
148931		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dunne, C.  et al. 2006	16948649				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European;Irish		CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    68(3)    257-62	Human leucocyte antigen class II polymorphism in Irish patients with multiple sclerosis		142857		CDC	2006												
148933		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Aly, T. A.  et al. 2006	16966600				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Proc Natl Acad Sci U S A    2006	Extreme genetic risk for type 1A diabetes		142857		CDC	2006												
148934		Pigeon breeders disease	OTHER	OTH		6	6p21.3	HLA-DRB1	32593131	32665559		Melo, N.  et al. 2005	16969536				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Rev Port Pneumol    2005    11(6 Suppl 1)    29	HLA - A, -C, -B, -DRB1 e -DQB polymorphisms in extrinsic allergic alveolitis (EAA).		142857		CDC	2005	A significant increase of one HLA - DRB1*13 allele and one HLA - DQB1*03 allele, in the EAA, are already reported. The association of EAA and the decrease of the HLA - DRB1*08 and -DQB*04 alleles are also noticed. The high values of OR, that suggest an increased susceptibility to develop AAE, will need to be confirmed with larger samples.											
148935		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Morais, A.  et al. 2005	16969539				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Rev Port Pneumol    2005    11(6 Suppl 1)    32-3	HLA-class I and II genotyping in sarcoidosis patients.		142857		CDC	2005	This data adds support to the theory that HLA class I and II are associated with the sarcoidosis, its type of presentation, organ involvement and evolution.											
148937	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Almawi, W. Y.  et al. 2006	16988007				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Clin Vaccine Immunol    2006    13(11)    1296-8	Association of selective HLA class II susceptibility-conferring and protective haplotypes with type 2 diabetes in patients from Bahrain and Lebanon		142857		CDC	2006												
148938		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gombos, Z.  et al. 2006	17002902				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Finnish	Finland	CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(9)    714-21	Human Leukocyte Antigen Non-Class II Determinants for Type 1 Diabetes in the Finnish Population		142857		CDC	2006												
148939	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Roh, E. Y.  et al. 2006	17002906				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Japanese;Korean	Korea	CDC GDP info	3123	Hs.534322			Hum Immunol    2006    67(9)    749-55	Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects		142857		CDC	2006												
148940		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lopez-Arbesu, R.  et al. 2006	17003176				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Rheumatology (Oxford)    2006	MHC class I chain-related gene B (MICB) is associated with rheumatoid arthritis susceptibility		142857		CDC	2006	MICB*004 allele was associated with RA susceptibility. This allele was in linkage disequilibrium with HLA-DRB1*0404 and DRB1*0405. The association of MICB with RA susceptibility and the functional role of MIC genes in the pathogenesis of RA converts MICB into a candidate to be an additional MHC gene associated with RA susceptibility.											
148943	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Tracey, M. C.  et al. 2006	17026464				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	New Zealand		CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    68(4)    297-302	Class II HLA allele polymorphism		142857		CDC	2006												
148944	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Deja, G.  et al. 2006	17047287				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Mediators Inflamm    2006    2006(4)    19724	Is the Association Between TNF-alpha-308 A Allele and DMT1 Independent of HLA-DRB1, DQB1 Alleles?		142857		CDC	2006												
148945	Y	hepatitis type 2, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Djilali-Saiah, I.  et al. 2006	17050030				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			J Hepatol    2006    45(6)    844-50	HLA class II influences humoral autoimmunity in patients with type 2 autoimmune hepatitis		142857		CDC	2006	The HLA-DR locus is involved in autoantibody expression, while the DQ locus appears to be a critical determinant for the development of type 2 AIH.											
148946	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Steck, A. K.  et al. 2006	17054449				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	non-Hispanic		CDC GDP info	3123	Hs.534322			Pediatr Diabetes    2006    7(5)    274-278	Association of the PTPN22/LYP gene with type 1 diabetes		142857		CDC	2006	In this study, we confirm that PTPN22 is associated with T1D in the Colorado population.											
148947	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Liu, W.  et al. 2006	17060025				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Autoimmunity    2006    39(6)    461-7	Association of HLA class II DRB1, DPA1 and DPB1 polymorphism with genetic susceptibility to idiopathic dilated cardiomyopathy in Chinese Han nationality		142857		CDC	2006												
148949	Y	pancreatitis, autoimmune	IMMUNE	IMM	Pancreatitis|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ota, M.  et al. 2006	17119950				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Immunogenetics    2006	Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis		142857		CDC	2006												
148950		Brugada syndrome	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Himmunngan, P.  et al. 2006	17124999				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Thai		CDC GDP info	3123	Hs.534322			Southeast Asian J Trop Med Public Health    2006    37(2)    357-65	HLa-class II (DRB & DQB1) in Thai sudden unexplained death syndrome (Thai SUDS) families (Lai-Tai families)		142857		CDC	2006												
148951		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rodriguez-Perez, J. M.  et al. 2006	17126830				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Mexican		CDC GDP info	3123	Hs.534322			Exp Mol Pathol    2006	MHC class II genes in Mexican patients with idiopathic dilated cardiomyopathy		142857		CDC	2006												
148952		diabetes, type 1	IMMUNE	IMM	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Hyperglycemia	6	6p21.3	HLA-DRB1	32593131	32665559		Kawasaki, E.  et al. 2006	17130528				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDP info	3123	Hs.534322			Ann N Y Acad Sci    2006    1079    24-30	Genetics of fulminant type 1 diabetes		142857		CDC	2006												
148954		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Rassi, D. M.  et al. 2006	17130569				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian	Brazil	CDC GDP info	3123	Hs.534322			Ann N Y Acad Sci    2006    1079    300-4	TNFa-e Microsatellite, HLA-DRB1 and -DQB1 Alleles and Haplotypes in Brazilian Patients Presenting Recently Diagnosed Type 1 Diabetes Mellitus		142857		CDC	2006												
148955	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Desai, M.  et al. 2006	17143607				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European;Irish		CDC GDP info	3123	Hs.534322			Diabetologia    2006	An association analysis of the HLA gene region in latent autoimmune diabetes in adults		142857		CDC	2006	 Patterns of susceptibility at the HLA-DRB1 and HLA-DQB1 loci in LADA are similar to those reported for type 1 diabetes, supporting the hypothesis that autoimmune diabetes occurring in adults is an age-related extension of the pathophysiological process presenting as childhood-onset type 1 diabetes.											
148956		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	6	6p21.3	HLA-DRB1	32593131	32665559		Ali, A. A.  et al. 2006	17144392				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Pak Med Assoc    2006    56(10)    452-6	Polymorphism of HLA-DR and HLA-DQ in rheumatoid arthritis patients and clinical response to methotrexate--a hospital-based study		142857		CDC	2006	RA susceptibility in most Pakistani patients is associated with the HLA-DRB1*01/DQB1*06 genotype. HLA-DRB1*03 was found to be significantly more common among non-responders to MTX treatment suggesting that Pakistani patients with this genotype are less likely to benefit from MTX.		methotrexate									
148957		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Saad, A. H.  et al. 2006	17153701				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors		142857		CDC	2006												
148959		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.3	HLA-DRB1	32593131	32665559		Tromp, G.  et al. 2006	17182961				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann N Y Acad Sci    2006    1085    392-5	HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population		142857		CDC	2006	this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
148960		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Juhn, Y. J.  et al. 2007	17212706				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(1)    38-46	Childhood asthma and human leukocyte antigen type		142857		CDC	2007												
148962		Rubella vaccine, cytokine response to	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2007	17215337				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Clin Vaccine Immunol    2007	Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination		142857		CDC	2007												
148963		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-DRB1	32593131	32665559		Ovsyannikova, I. G.  et al. 2007	17234427				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		142857		CDC	2007			measles vaccine									
148964		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sarafnejad, A.  et al. 2006	17237562				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Iranian	Iran	CDC GDP info	3123	Hs.534322			Iran J Allergy Asthma Immunol    2006    5(3)    115-9	HLA class II Allele and Haplotype Frequencies in Iranian Patients with Acute Myelogenous Leukemia and Control Group		142857		CDC	2006												
148965		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yeo, T. W.  et al. 2007	17252545				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann Neurol    2007	A second major histocompatibility complex susceptibility locus for multiple sclerosis		142857		CDC	2007												
148967		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wiencke, K.  et al. 2007	17257319				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Norwegian		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(2)    161-9	Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes		142857		CDC	2007	our study shows that a gene in LD with D6S265 contributes to susceptibility to develop PSC in individuals carrying DR6.											
148968		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Chelala, C.  et al. 2007	17259401				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Diabetes    2007    56(2)    522-6	PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits		142857		CDC	2007												
148969	N	Fuchs heterochromic cyclitis	IMMUNE	IMM	Iridocyclitis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Spriewald, B. M.  et al. 2007	17287608				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ophthalmic Res    2007    39(2)    116-120	A Suggestive Association of Fuchs Heterochromic Cyclitis with Cytotoxic T Cell Antigen 4 Gene Polymorphism		142857		CDC	2007	CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.											
148970	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Liu, M. L.  et al. 2006	17288808				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhonghua Yi Xue Za Zhi    2006    86(42)    2971-4	Polymorphism of human leukocyte antigen-A, B, and DRB1 genes in bone marrow registry donors of Shaanxi province analysis of 14 006 cases.		142857		CDC	2006	The characteristics of the polymorphism of HLA-A, B, and DRB1 genes in Shaanxi province were established which will be helpful for patients to find matched donors and establish the foundation for further studying population genetics and HLA-related diseases.											
148971		ulcerative colitis	IMMUNE	IMM	Cholangitis, Sclerosing|Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Karlsen, T. H.  et al. 2007	17301827				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European;Norwegian;Scandinavian		CDC GDP info	3123	Hs.534322			Genes Immun    2007	Different HLA class II associations in ulcerative colitis patients with and without primary sclerosing cholangitis		142857		CDC	2007												
148972		nasal polyps	OTHER	OTH	Nasal Polyps	6	6p21.3	HLA-DRB1	32593131	32665559		Zhai, L.  et al. 2007	17305280				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann Otol Rhinol Laryngol    2007    116(1)    66-8	Polymorphism between loci for human leukocyte antigens DR and DQ in patients with nasal polyps		142857		CDC	2007	We conclude that HLA-DR16, HLA-DQ8, and HLA-DQ9 represent potential susceptibility determinants and that HLA-DQ7 might confer resistance in nasal polyps.											
148973	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Brick, C.  et al. 2007	17306585				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	French;Italian;Moroccan;Portuguese;Sardinian;Tunisian		CDC GDP info	3123	Hs.534322			Transfus Clin Biol    2007	HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population		142857		CDC	2007	Our results confirm and extend the current knowledge about the Moroccan genetic pattern and reflect all the ethnic diversity of the country.											
148974	Y	birth weight body mass	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Birth Weight	6	6p21.3	HLA-DRB1	32593131	32665559		Hummel, M.  et al. 2007	17310371				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	German		CDC GDP info	3123	Hs.534322			Diabetologia    2007	Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactions		142857		CDC	2007	 Our findings are consistent with the hypothesis that a diabetic intrauterine environment interacts with gene(s) marked by the type 1 diabetes susceptibility HLA DR4 alleles to increase fetal growth.											
148976		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Katarina, K.  et al. 2007	17318773				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Exp Clin Endocrinol Diabetes    2007    115(2)    124-9	HLA, NFKB1 and NFKBIA Gene Polymorphism Profile in Autoimmune Diabetes Mellitus Patients		142857		CDC	2007												
148977		paracoccidioidomycosis	INFECTION	INF	Paracoccidioidomycosis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sadahiro, A.  et al. 2007	17325942				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Med Mycol    2007    45(1)    35-40	Generic human leukocyte antigen class II (DRB1 and DQB1) alleles in patients with paracoccidioidomycosis		142857		CDC	2007												
148978		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Schmidt, H.  et al. 2007	17329717				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian;European		CDC GDP info	3123	Hs.534322			Am J Epidemiol    2007	HLA-DR15 Haplotype and Multiple Sclerosis		142857		CDC	2007												
148980		rheumatoid arthritis	IMMUNE	IMM	Arthritis|Arthritis, Rheumatoid|Disease Progression	6	6p21.3	HLA-DRB1	32593131	32665559		Feitsma, A. L.  et al. 2007	17341507				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Rheumatology (Oxford)    2007	Risk of progression from undifferentiated arthritis to rheumatoid arthritis		142857		CDC	2007												
148981		cervical cancer	CANCER	CAN	Papillomavirus Infections|Tumor Virus Infections|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Wu, Y.  et al. 2007	17349874				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Immunol    2007    68(3)    192-200	Human Leukocyte Antigen Class II Alleles and Risk of Cervical Cancer in China		142857		CDC	2007												
148983		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Petersdorf, E. W.  et al. 2007	17378697				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			PLoS Med    2007    4(1)    e8	MHC haplotype matching for unrelated hematopoietic cell transplantation		142857		CDC	2007	The MHC harbors genes that encode unidentified transplantation antigens.											
148984		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	6	6p21.3	HLA-DRB1	32593131	32665559		Amirzargar, A. A.  et al. 2007	17387388				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Iranian	Iran	CDC GDP info	3123	Hs.534322			Pathol Oncol Res    2007    13(1)    47-51	Association of HLA Class II Allele and Haplotype Frequencies with Chronic Myelogenous Leukemia and Age-at-Onset of the Disease		142857		CDC	2007	it is suggested that positive and negative association in certain HLA alleles and haplotypes exist in Iranian patients with CML.											
148985		physiologic constitutions, Traditional Chinese Med. Defined	NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Chen, S.  et al. 2007	17388766				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Altern Complement Med    2007    13(2)    231-240	HLA Class II Polymorphisms Associated with The Physiologic Characteristics Defined by Traditional Chinese Medicine		142857		CDC	2007	This was the first study to systematically investigate the relationship between HLA and TCM constitution using a high-resolution typing technique. The results suggested a genetic basis for the classification of physical constitution in TCM. This study laid the foundation, for the first time ever, toward gaining insight into the theory of traditional medicine using modern biological approaches.											
148986		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Harbo, H. F.  et al. 2007	17389012				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Norwegian		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(4)    299-304	Low frequency of the disease-associated DRB1*15-DQB1*06 haplotype may contribute to the low prevalence of multiple sclerosis in Sami		142857		CDC	2007												
148987		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Martinez, A.  et al. 2007	17389014				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(4)    313-7	Epistatic interaction between FCRL3 and MHC in Spanish patients with IBD		142857		CDC	2007												
148989		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Frezza, D.  et al. 2007	17392350				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann Rheum Dis    2007	Polymorphism of immunoglobulin (Ig) enhancer element HS1,2A		142857		CDC	2007	These data confirm the hypothesis of an increased risk of having SSc in carriers of the allele *2, suggesting an intriguing function of this polymorphism for the B cell regulation.											
148990		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Graham, R. R.  et al. 2007	17406641				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European		CDC GDP info	3123	Hs.534322			Eur J Hum Genet    2007	Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE		142857		CDC	2007												
148992		vitiligo	IMMUNE	IMM		6	6p21.3	HLA-DRB1	32593131	32665559		Wang, J.  et al. 2007	17407088				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    221-3	Association of HLA class I and II alleles with generalized vitiligo in Chinese Hans in north China.		142857		CDC	2007	These alleles positively associated with generalized vitiligo in Chinese Han patients in north China, might provide clues to reveal the susceptibility gene(s) of vitiligo in Chinese and as well as the immunnogenetic mechanisms of disease.		family history									
148993	Y	cervical cancer	CANCER	CAN	Carcinoma|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms	6	6p21.3	HLA-DRB1	32593131	32665559		Saito, M.  et al. 2007	17433060				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Int J Gynecol Cancer    2007	Association of human leukocyte antigen and T cell message with human papillomavirus 16-positive cervical neoplasia in Japanese women		142857		CDC	2007												
148994		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kallberg, H.  et al. 2007	17436241				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Am J Hum Genet    2007    80(5)    867-75	Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis		142857		CDC	2007			smoking (tobacco)									
148995		leukemia lymphoma	CANCER	CAN	HTLV-I Infections	6	6p21.3	HLA-DRB1	32593131	32665559		Goedert, J. J.  et al. 2007	17437273				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Int J Cancer    2007	Risk of human T-lymphotropic virus type I-associated diseases in Jamaica with common HLA types		142857		CDC	2007												
148996	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Voorter, C. E.  et al. 2007	17445172				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian;Korean		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69 Suppl 1    76-81	Sequence-based typing of HLA-DQA1		142857		CDC	2007												
148997	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Lee, K. W.  et al. 2007	17445173				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69 Suppl 1    82-4	Diversity of HLA-DQA1 gene in the Korean population		142857		CDC	2007												
148999		anti-cyclic citrullinated peptide antibodies rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	6	6p21.3	HLA-DRB1	32593131	32665559		Cha, S.  et al. 2007	17469103				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean	Korea	CDC GDP info	3123	Hs.534322			Arthritis Rheum    2007    56(5)    1454-1463	Association of Anti-Cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis		142857		CDC	2007	The PADI4 RA risk haplotype is associated with increased anti-CCP levels in RA patients with disease of short duration, and PADI4 may play a role in early RA. In contrast, SE alleles are associated with increased anti-CCP levels in RA patients with very longstanding disease and in patients with erosive RA, suggesting that SE alleles play a role in very late											
149000		hepatitis C sicca syndrome	INFECTION	INF	Hepatitis C, Chronic|Sjogren's Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Smyth, C. M.  et al. 2007	17489060				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Eur J Gastroenterol Hepatol    2007    19(6)    493-498	Chronic hepatitis C infection and sicca syndrome		142857		CDC	2007	The development of autoimmune disease in patients with chronic hepatitis C virus infection depends on the interaction of multiple factors.											
149001		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DRB1	32593131	32665559		Alves-Leon, S. V.  et al. 2007	17489940				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian;European	Brazil	CDC GDP info	3123	Hs.534322			Acta Neurol Scand    2007    115(5)    306-11	Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients		142857		CDC	2007	Heterogeneous phenotypes occur in both Brazilian ethnic groups.											
149002	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Wu, Q. J.  et al. 2007	17493347				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(2)    357-63	Gene and Haplotype Frequencies for the Loci HLA-A, B and DRB1 in 11755 North Chinese Han Bone Marrow Registry Donors.		142857		CDC	2007												
149004		anti-islet autoantibodies diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Baschal, E. E.  et al. 2007	17513705				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Diabetes    2007	HLA-DPB1*0402 Protects Against Type 1A Diabetic Autoimmunity in the Highest Risk DR3-DQB1*0201/DR4-DQB1*0302 DAISY Population		142857		CDC	2007	The ability to identify a major group of general population newborns with a 20% risk of anti-islet autoimmunity should enhance both studies of the environmental determinants of type 1A diabetes and the design of trials for the primary prevention of anti-islet autoimmunity.											
149005	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Zivadinov, R.  et al. 2007	17531857				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Int Rev Neurobiol    2007    79C    521-535	HLA-DRB1*1501, -DQB1*0301, -DQB1*0302, -DQB1*0602, and -DQB1*0603 Alleles are Associated With More Severe Disease Outcome on Mri in Patients With Multiple Sclerosis		142857		CDC	2007												
149007		sarcoidosis tuberculosis	IMMUNE	IMM	Tuberculosis|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Dubaniewicz, A.  et al. 2007	17541908				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Pneumonol Alergol Pol    2007    75(1)    13-21	Analysis of occurrence of DRB and DQ alleles in sarcoidosis and tuberculosis from Northern Poland.		142857		CDC	2007	In summary, we identified associations of HLA class II alleles in SA and TB with expression pattern specific and different for each group.											
149008		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kawase, T.  et al. 2007	17554059				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		142857		CDC	2007												
149009		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Sedimbi, S. K.  et al. 2007	17554341				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Swedish;Caucasian		CDC GDP info	3123	Hs.534322			Genes Immun    2007	SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients		142857		CDC	2007												
149010		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Voorter, C. E.  et al. 2007	17559577				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    70(1)    18-27	HLA class II amino acid epitopes as susceptibility markers of sarcoidosis		142857		CDC	2007	pocket 9 of DQ and pocket 4 of DR seem to be the most important areas involved in the association with sarcoidosis.											
149011		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Stanevicha, V.  et al. 2007	17559688				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Arthritis Res Ther    2007    9(3)    R58	HLA Class II DR and DQ genotypes and haplotypes associated with rheumatic fever among clinically homogenous patients in children in Latvia		142857		CDC	2007												
149012		alveolar echinococcosis	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Aydinli, B.  et al. 2007	17573956				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Turkish		CDC GDP info	3123	Hs.534322			Hepatol Res    2007	Association between hepatic alveolar echinococcosis and frequency of human leukocyte antigen class I and II alleles in Turkish patients		142857		CDC	2007	The present study indicates that susceptibility to HAE in the Turkish population is essentially HLA class II and poorly class I mediated, with HLA-26, and DRB1*015, DQB1* 02, 06, 07 with more allele distribution in the patient group. Our results are not similar to those of other studies, but contribute to the discussions on the association of HLA class I and class II alleles with AE.											
149013		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Gundogdu, F.  et al. 2007	17578051				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Heart Valve Dis    2007    16(3)    293-9	Human leukocyte antigen (HLA) class I and II alleles in Turkish patients with rheumatic heart disease		142857		CDC	2007	Among the studied population, the results suggested that susceptibility to RHD was HLA-related, with HLA-DQB1*08 most likely influencing the occurrence of the condition. HLA-B51, -Cw*4 and -DRB1*01 appeared to be more common in control subjects.											
149014		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rehman, S.  et al. 2007	17578052				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Heart Valve Dis    2007    16(3)    300-4	Human leukocyte antigen (HLA) class II association with rheumatic heart disease in Pakistan		142857		CDC	2007	These results show that HLA-DRB1*07, associated with RHD in various world populations, is also associated with RHD in the Pakistani population. The validation of HLA associations with RHD, which is observed in different world populations, may lead to the development of a cost-effective strategy in the primary prevention of this disease.											
149015		celiac disease diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lie, B. A.  et al. 2007	17584581				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hum Immunol    2007    68(7)    592-8	Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease		142857		CDC	2007												
149016		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Hirsch, D.  et al. 2007	17584585				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Israeli		CDC GDP info	3123	Hs.534322			Hum Immunol    2007    68(7)    616-22	Immunogenetics of HLA class II in Israeli patients with adult-onset Type 1 diabetes mellitus		142857		CDC	2007												
149018		Meniere's disease	OTHER	OTH	Hearing Loss, Sensorineural|Meniere Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Lopez-Escamez, J. A.  et al. 2007	17592398				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Spanish;European		CDC GDP info	3123	Hs.534322			Otol Neurotol    2007	HLA-DRB1*1101 Allele May Be Associated With Bilateral Meniere's Disease in Southern European Population		142857		CDC	2007	The allele HLA-DRB1*1101 and the allelic group HLA-DRB1*11 may determine an increased susceptibility to develop bilateral MD in a southern European population.											
149019		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Thomson, G. et al.  et al. 2007	17610416				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    70(2)    110-27	Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes		142857		CDC	2007												
149020		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mochida, A.  et al. 2007	17610417				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    70(2)    128-35	Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502		142857		CDC	2007												
149021		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702			16405603				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Brazilian		CDC GDP info	3125	Hs.554754			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks				CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
149023		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Ogata, T.  et al. 2006	16879749				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Belgian;Canadian		CDC GDP info	3125	Hs.554754			BMC Med Genet    2006    7(1)    67	Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population				CDC	2006	This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
149024	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Lombard, Z.  et al. 2006	16916662				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			Hum Immunol    2006    67(8)    643-54	Association of HLA-DR, -DQ, and Vitamin D Receptor Alleles and Haplotypes with Tuberculosis in the Venda of South Africa				CDC	2006	common African HLA-DRB1 and -DQB1 variants, previously associated with protection from malaria and hepatitis B/C virus persistence, predispose the Venda to TB, whereas the proposedly active VDR haplotype F-b-A-T showed significant protection.											
149026		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DRB3	3870634	3883702		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort				CDC	2006												
149027		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Saad, A. H.  et al. 2006	17153701				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors				CDC	2006												
149028		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.3	HLA-DRB3	3870634	3883702		Tromp, G.  et al. 2006	17182961				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			Ann N Y Acad Sci    2006    1085    392-5	HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population				CDC	2006	this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
149029		juvenile arthritis periodontitis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Periodontal Attachment Loss|Periodontitis|Chronic Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Reichert, S.  et al. 2007	17509091				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			J Clin Periodontol    2007    34(6)    492-8	Are there common human leucocyte antigen associations in juvenile idiopathic arthritis and periodontitis?				CDC	2007	HLA-DRB3(*) could be a common putative risk indicator for juvenile idiopathic arthritis and chronic periodontitis among females.											
149030		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Voorter, C. E.  et al. 2007	17559577				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			Tissue Antigens    2007    70(1)    18-27	HLA class II amino acid epitopes as susceptibility markers of sarcoidosis				CDC	2007	pocket 9 of DQ and pocket 4 of DR seem to be the most important areas involved in the association with sarcoidosis.											
149031		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973			16405603				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Brazilian		CDC GDP info	3126	Hs.612586			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks				CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
149033	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-DRB4	32507027	32521973		Abanmi, A.  et al. 2006	17021767		protective		Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Saudi		CDC GDP info	3126	Hs.612586			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo				CDC	2006												
149034		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DRB4	32507027	32521973		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDP info	3126	Hs.612586			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort				CDC	2006												
149035		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Saad, A. H.  et al. 2006	17153701				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDP info	3126	Hs.612586			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors				CDC	2006												
149036		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.3	HLA-DRB4	32507027	32521973		Tromp, G.  et al. 2006	17182961				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996			CDC GDP info	3126	Hs.612586			Ann N Y Acad Sci    2006    1085    392-5	HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population				CDC	2006	this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
149037		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Sarafnejad, A.  et al. 2006	17237562				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Iranian	Iran	CDC GDP info	3126	Hs.612586			Iran J Allergy Asthma Immunol    2006    5(3)    115-9	HLA class II Allele and Haplotype Frequencies in Iranian Patients with Acute Myelogenous Leukemia and Control Group				CDC	2006												
149040		schistosomiasis	INFECTION	INF	Schistosomiasis japonica	6	6p21.3	HLA-DRB5	32593131	32665559		Cheng, Y. L.  et al. 2005	16566202				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi    2005    23(6)    392-5	Microarray DNA chip in analyzing the association between HLA-DRB and advanced hepatosplenic schistosomiasis		604776		CDC	2005	Allele HLA-DRB1*04x is positively, while HLA-DRB1*15x is negatively, correlated with advanced hepatosplenic schistosomiasis.											
149041	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Lombard, Z.  et al. 2006	16916662				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			Hum Immunol    2006    67(8)    643-54	Association of HLA-DR, -DQ, and Vitamin D Receptor Alleles and Haplotypes with Tuberculosis in the Venda of South Africa		604776		CDC	2006	common African HLA-DRB1 and -DQB1 variants, previously associated with protection from malaria and hepatitis B/C virus persistence, predispose the Venda to TB, whereas the proposedly active VDR haplotype F-b-A-T showed significant protection.											
149042		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DRB5	32593131	32665559		Li, S.  et al. 2006	17106278				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		604776		CDC	2006												
149043		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Saad, A. H.  et al. 2006	17153701				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			J Egypt Soc Parasitol    2006    36(3)    889-910	Association of immune responses to mycobacterium tuberculosis peptide antigens with host genetic factors		604776		CDC	2006												
149044		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.3	HLA-DRB5	32593131	32665559		Tromp, G.  et al. 2006	17182961				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			Ann N Y Acad Sci    2006    1085    392-5	HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population		604776		CDC	2006	this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
149046		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-E	30565249	30569072		Tripathi, P.  et al. 2006	16573557				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4			CDC GDP info	3133	Hs.118354			Tissue Antigens    2006    67(3)    207-13	HLA-E and immunobiology of pregnancy		143010		CDC	2006												
149047	Y	graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-E	30565249	30569072		Tamouza, R.  et al. 2006	17164714	HLA-E*0103	protective		Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4			CDC GDP info	3133	Hs.118354	protective		Transplantation    2006    82(11)    1436-1440	Homozygous Status for HLA-E*0103 Confers Protection from Acute Graft-Versus-Host Disease and Transplant-Related Mortality in HLA-Matched Sibling Hematopoietic Stem Cell Transplantation		143010		CDC	2006	These data suggest that the homozygous state for HLA-E*0103 allele behaves as a protective genetic factor against aGVHD and TRM and likely contributes to improved survival in HLA-genoidentical bone marrow transplantation.											
149048		Behcet's disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-E	30565249	30569072		Park, K. S.  et al. 2007	17257316				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4			CDC GDP info	3133	Hs.118354			Tissue Antigens    2007    69(2)    139-144	HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease		143010		CDC	2007												
149050		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613			16426245				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Int J Immunogenet    2006    33(1)    55-8	HLA-G polymorphism in a Chinese Han population with recurrent spontaneous abortion		142871		CDC	2006												
149051	N	eclampsia preeclampsia	REPRODUCTION	REP	Eclampsia|Pre-Eclampsia	6	6p21.3	HLA-G	29902722	30085613		Doherty, V. L.  et al. 2006	16867913			promoter	HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Hypertens Pregnancy    2006    25(2)    63-71	The -56T HLA-G promoter polymorphism is not associated with pre-eclampsia/eclampsia in Australian and New Zealand women		142871		CDC	2006												
149052		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	6	6p21.3	HLA-G	29902722	30085613		Rizzo, R.  et al. 2006	16906016				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Pharmacogenet Genomics    2006    16(9)    615-23	HLA-G 14-bp polymorphism regulates the methotrexate response in rheumatoid arthritis		142871		CDC	2006	Our results propose that the MTX induces the production of the anti-inflammatory sHLA-G molecules that concur with the therapy response. Furthermore, the association between -14/-14 bp genotype and MTX clinical outcome proposes this polymorphism as a therapy marker in the early phases of the disease.		methotrexate									
149053	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	6	6p21.3	HLA-G	29902722	30085613		Hviid, T. V.  et al. 2006	16933468	14-bp sequence polymorphism in exon 8 of the HLA-G			HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Sarcoidosis Vasc Diffuse Lung Dis    2006    23(1)    30-7	HLA-G polymorphisms and HLA-G expression in sarcoidosis		142871		CDC	2006	HLA-G alleles that include a 14-bp sequence polymorphism in exon 8 of the HLA-G gene are observed more often in sarcoidosis patients than in controls. The sequence variation may influence HLA-G mRNA stability and influence the expression of soluble isoforms of HLA-G. Only rare and weak expression of HLA-G was observed in granulomas from sarcoidosis patients. More studies are needed to further elucidate the possible role for HLA-G in sarcoidosis.											
149054	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		Lin, A.  et al. 2006	17026466				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Tissue Antigens    2006    68(4)    311-316	Maternal human leukocyte antigen-G polymorphism is not associated with pre-eclampsia in a Chinese Han population		142871		CDC	2006												
149055		HIV	INFECTION	INF		6	6p21.3	HLA-G	29902722	30085613		Aikhionbare, F. O.  et al. 2006	17059603				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			AIDS Res Ther    2006    3(1)    28	HLA-G DNA sequence variants and risk of perinatal HIV-1 transmission		142871		CDC	2006	This study identified new variants in the HLA-G gene and provides further evidence that dissimilarities in the HLA-G DNA sequence variants could influence the transmission of HIV-1 from infected mothers to their infants.											
149056	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Yan, W. H.  et al. 2006	17176444				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Tissue Antigens    2006    68(6)    521-523	Association of the maternal 14-bp insertion polymorphism in the HLA-G gene in women with recurrent spontaneous abortions		142871		CDC	2006												
149058		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Abortion, Habitual	6	6p21.3	HLA-G	29902722	30085613		Xue, S.  et al. 2007	17445192				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3	Danish;Indian		CDC GDP info	3135	Hs.512152			Tissue Antigens    2007    69 Suppl 1    153-5	Recurrent spontaneous abortions patients have more -14 bp/+14 bp heterozygotes in the 3'UT region of the HLA-G gene in a Chinese Han population		142871		CDC	2007												
149060		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Chronic Progressive|Multiple Sclerosis, Relapsing-Remitting|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		Kroner, A.  et al. 2007	17462509				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Hum Immunol    2007    68(5)    422-5	The Genetic Influence of the Nonclassical MHC Molecule HLA-G on Multiple Sclerosis		142871		CDC	2007												
149061			REPRODUCTION	REP	Abortion, Spontaneous|Pre-Eclampsia	6	6p21.3	HLA-G	29902722	30085613		Mendes-Junior, C. T.  et al. 2007	17493150				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3	Indian		CDC GDP info	3135	Hs.512152			Tissue Antigens    2007    69(3)    255-60	HLA-G 14-bp polymorphism at exon 8 in Amerindian populations from the Brazilian Amazon		142871		CDC	2007												
149062	P		NORMALVARIATION	NV		6	6p21.3	HLA-G	29902722	30085613		Castelli, E. C.  et al. 2007	17559583				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3	Brazilian		CDC GDP info	3135	Hs.512152			Tissue Antigens    2007    70(1)    62-8	HLA-G alleles and HLA-G 14 bp polymorphisms in a Brazilian population		142871		CDC	2007												
149063		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Neoplasms, Second Primary|Genetic Predisposition to Disease	1		HLX1	219119381	219125018		Jawad, M.  et al. 2006	16902145				H2.0-like homeobox 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021958.2			CDC GDP info	3142	Hs.74870			Blood    2006	Polymorphisms in human homeobox HLX1 and DNA repair RAD51 genes increase the risk of therapy-related acute myeloid leukemia		142995		CDC	2006												
149064	N	caudal regression syndrome	OTHER	OTH	Lower Extremity Deformities, Congenital|Abnormalities, Multiple|Syndrome|Genetic Predisposition to Disease	7	7q36	HLXB9	156479505	156496108		Merello, E.  et al. 2006	16498628				Homeobox HB9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005515		Italy	CDC GDP info	3110	Hs.37035			Birth Defects Res A Clin Mol Teratol    2006	HLXB9 homeobox gene and caudal regression syndrome		142994		CDC	2006	We confirmed that the HLXB9 gene is not involved in the pathogenesis of CRS, and to date is known as a causative gene only for CS.											
149066		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	5	5q13.3-q14	HMGCR	74668854	74693681		Licastro, F.  et al. 2006	16930778				3-hydroxy-3-methylglutaryl-Coenzyme A reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000859.1			CDC GDP info	3156	Hs.643495			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		142910		CDC	2006												
149067	Y	Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Carcinoma, Hepatocellular|Liver Neoplasms|Alzheimer Disease|Disease Progression|Genetic Predisposition to Disease|Cognition Disorders	5	5q13.3-q14	HMGCR	74668854	74693681		Porcellini, E.  et al. 2007	17284348			promoter	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000859.1	Italian		CDC GDP info	3156	Hs.643495			Neurosci Lett    2007	The hydroxy-methyl-glutaryl CoA reductase promoter polymorphism is associated with Alzheimer's risk and cognitive deterioration		142910		CDC	2007												
149068		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1p13-p12	HMGCS2	120092525	120113041		Wollmer, M. A.  et al. 2007	17387528				3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044217	European		CDC GDP info	3158	Hs.59889			Neurogenetics    2007	Association study of cholesterol-related genes in Alzheimer's disease		600234		CDC	2007	genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.											
149069		carotid artery damage coronary artery bypass graft mortality, all cause myocardial infarct percutaneous coronary interventions stroke, hemorrhagic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Coronary Disease|Peripheral Vascular Diseases|Diabetes Mellitus	22	22q12	HMOX1	34107086	34120194			16313248				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Eur J Clin Invest    2005    35(12)    731-7	Haem oxygenase-1 genotype and cardiovascular adverse events in patients with peripheral artery disease		141250		CDC	2005	Apparently, the HO-1 genotype exerts potentially protective effects against coronary adverse events in patients with peripheral artery disease. Homozygous and heterozygous carriers of < 25 (GT)n repeats had lower rates of myocardial infarction, percutaneous coronary interventions and coronary bypass operations compared to patients with longer (GT)n repeats.											
149070		subarachnoid hemorrhage	NEUROLOGICAL	NEUR	Intracranial Aneurysm|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Morgan, L.  et al. 2005	16455537				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Br J Neurosurg    2005    19(4)    317-21	Polymorphism of the heme oxygenase-1 gene and cerebral aneurysms		141250		CDC	2005												
149071	Y	pneumonia	INFECTION	INF	Pneumonia|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Yasuda, H.  et al. 2006	16582079	HMOX1  (GT)n repeat		promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			J Med Genet    2006    43(4)    e17	Association of susceptibility to the development of pneumonia in the older Japanese population with haem oxygenase-1 gene promoter polymorphism		141250		CDC	2006	The large size of a (GT)n repeat in the HO-1 gene promoter may be associated with susceptibility to pneumonia in the older Japanese population.											
149073		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Restenosis	22	22q12	HMOX1	34107086	34120194		Wijpkema, J. S.  et al. 2006	16609364				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Pharmacogenet Genomics    2006    16(5)    331-337	Restenosis after percutaneous coronary intervention is associated with the angiotensin-II type-1 receptor 1166A/C polymorphism but not with polymorphisms of angiotensin-converting enzyme, angiotensin-II receptor, angiotensinogen or heme oxygenase-1		141250		CDC	2006	We could only establish a role for the AT1R 1166A/C polymorphism in restenosis after PCI. However, significant gene-gene interaction was suggested for the ACE gene and the HO-1 promotor. The RAS and HO-1 relation in restenosis merits further investigation.											
149074	Y	lung function	OTHER	OTH	Lung Diseases|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		Guenegou, A.  et al. 2006	16882737			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	French		CDC GDP info	3162	Hs.517581			J Med Genet    2006    43(8)    e43	Association of lung function decline with the heme oxygenase-1 gene promoter microsatellite polymorphism in a general population sample. Results from the European Community Respiratory Health Survey (ECRHS), France		141250		CDC	2006			smoking (tobacco)									
149075		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	22	22q12	HMOX1	34107086	34120194		Fu, W. P.  et al. 2007	17203192				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Oncol Rep    2007    17(2)    483-8	Relationship between COPD and polymorphisms of HOX-1 and mEPH in a Chinese population		141250		CDC	2007												
149076		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	22	22q12	HMOX1	34107086	34120194		Fu, W. P.  et al. 2007	17254481				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Chin Med J (Engl)    2007    120(1)    12-6	Heme oxygenase-1 polymorphism associated with severity of chronic obstructive pulmonary disease		141250		CDC	2007	Genetic polymorphism in HOX-1 is associated with the severity of COPD in Southwest China. COPD patients with class L allele may be susceptible to develop very severe COPD. Conversely, the COPD patients without class L allele may be more easily stabilized on mild COPD.											
149077	Y	kidney transplant	RENAL	REN	Cadaver	22	22q12	HMOX1	34107086	34120194		Courtney, A. E.  et al. 2007	17391133			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1	Caucasian		CDC GDP info	3162	Hs.517581			Am J Transplant    2007    7(4)    908-13	Association of functional heme oxygenase-1 gene promoter polymorphism with renal transplantation outcomes		141250		CDC	2007												
149078	N	restenosis	CARDIOVASCULAR	CARD	Coronary Restenosis|Myocardial Infarction|Postoperative Complications	22	22q12	HMOX1	34107086	34120194		Tiroch, K.  et al. 2007	17400606			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Eur Heart J    2007	Heme oxygenase-1 gene promoter polymorphism and restenosis following coronary stenting		141250		CDC	2007	This study does not support a clinically relevant association of the HO-1 promoter polymorphism with restenosis and ischaemic events after coronary stenting.											
149079	Y	lymphovascular tumor invasion stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Neoplasm Invasiveness|Lymphatic Metastasis	22	22q12	HMOX1	34107086	34120194		Lo, S. S.  et al. 2007	17520317	HMOX1 long (GT) risk; medium (GT) protective	HMOX1 long (GT) risk; medium (GT) protective	promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581	protective		Ann Surg Oncol    2007	Heme Oxygenase-1 Gene Promoter Polymorphism is Associated with Risk of Gastric Adenocarcinoma and Lymphovascular Tumor Invasion		141250		CDC	2007	These findings suggest that the long (GT)( n ) repeat of HO-1 gene promoter was associated with a higher frequency of gastric adenocarcinoma, and the medium (GT)( n ) repeat might possess protective effect against gastric adenocarcinoma with a lower frequency of lymphovascular invasion in tumors.											
149080		diabetes, type 2 glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State|Disease Susceptibility	20	20q12-q13.1	HNF4A	42417854	42493444			16523192				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Caucasian;Polish	Poland	CDC GDP info	3172	Hs.116462			Diabetes Metab    2006    32(1)    86-88	Polymorphisms in the gene encoding hepatocyte nuclear factor-4alpha and susceptibility to type 2 diabetes in a Polish population.		600281		CDC	2006												
149081		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Kagami-Takasugi, M.  et al. 2006	16562587				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			J Pediatr Endocrinol Metab    2006    19(2)    143-8	Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus		600281		CDC	2006												
149084	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Ek, J.  et al. 2006	16731855			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			Diabetes    2006    55(6)    1869-1873	A Novel -192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4{alpha} Gene (HNF4A) Associates With Late-Onset Diabetes		600281		CDC	2006	a rare, novel mutation that disrupts a protein binding site in the pancreatic HNF4A promoter associates with late-onset diabetes.											
149085		diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Shaat, N.  et al. 2006	16752173				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Scandinavian		CDC GDP info	3172	Hs.116462			Diabetologia    2006    49(7)    1545-51	Common variants in MODY genes increase the risk of gestational diabetes mellitus		600281		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
149086	Y	cholesterol metabolic syndrome triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X|Hyperlipidemias	20	20q12-q13.1	HNF4A	42417854	42493444		Weissglas-Volkov, D.  et al. 2006	16804065				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Finnish;Mexican		CDC GDP info	3172	Hs.116462			Diabetes    2006    55(7)    1970-7	Common Hepatic Nuclear Factor-4{alpha} Variants Are Associated With High Serum Lipid Levels and the Metabolic Syndrome		600281		CDC	2006	we show for the first time that common HNF4A variants are associated with high serum lipid levels and the metabolic syndrome.											
149087	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	20	20q12-q13.1	HNF4A	42417854	42493444		Andrulionyte, L.  et al. 2006	16838170				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			J Mol Med    2006	Single nucleotide polymorphisms of the HNF4alpha gene are associated with the conversion to type 2 diabetes mellitus		600281		CDC	2006												
149088		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Yokoi, N.  et al. 2006	16873704				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Japanese;European		CDC GDP info	3172	Hs.116462			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		600281		CDC	2006												
149089		diabetes, type 2	METABOLIC	MET		20	20q12-q13.1	HNF4A	42417854	42493444		Zhang, R.  et al. 2006	16883527				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    406-9	Scanning the HNF4A gene mutation from Chinese pedigrees with earlyj and/or multiple-onset diabetes.		600281		CDC	2006	HNF4A gene mutation is rare in Chinese pedigrees with early and/or multiplex-onset diabetes.											
149090		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q12-q13.1	HNF4A	42417854	42493444		Bonnycastle, L. L.  et al. 2006	16936201				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Finnish		CDC GDP info	3172	Hs.116462			Diabetes    2006    55(9)    2534-40	Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns		600281		CDC	2006												
149092	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Wegner, L.  et al. 2006	16978381				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Canadian;CaucDanish		CDC GDP info	3172	Hs.116462			Diabet Med    2006    23(10)    1140-4	Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes		600281		CDC	2006	The PCK1-232C > G polymorphism is not a major contributor to the pathogenesis of Type 2 diabetes in the Danish population.											
149093	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Lehman, D. M.  et al. 2007	17259399			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Caucasian;Indian;Mexican;Mexican American;Pima Indians		CDC GDP info	3172	Hs.116462			Diabetes    2007    56(2)    513-7	P2 Promoter Variants of the Hepatocyte Nuclear Factor 4{alpha} Gene Are Associated With Type 2 Diabetes in Mexican Americans		600281		CDC	2007												
149094	Y	birth weight hypoglycemia	METABOLIC	MET	Fetal Macrosomia|Diabetes Mellitus, Type 2|Hyperinsulinism|Persistent Hyperinsulinemia Hypoglycemia of Infancy|Hypoglycemia|Birth Weight	20	20q12-q13.1	HNF4A	42417854	42493444		Pearson, E. R.  et al. 2007	17407387				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			PLoS Med    2007    4(4)    e118	Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene		600281		CDC	2007	HNF4A mutations are associated with a considerable increase in birthweight and macrosomia, and are a novel cause of neonatal hypoglycaemia.											
149096		ulcerative colitis	PHARMACOGENOMIC	PHARM	Colitis, Ulcerative	2	2q22.1	HNMT	138438059	138490404		Garcia-Martin, E.  et al. 2006	16489678				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			CDC GDP info	3176	Hs.42151			World J Gastroenterol    2006    12(4)    615-20	Severity of ulcerative colitis is associated with a polymorphism at diamine oxidase gene but not at histamine N-methyltransferase gene		605238		CDC	2006	The His645Asp polymorphism of the histamine metabolising enzyme ABP1 is related to severity of ulcerative colitis.		immunosuppressive agents									
149097		methylprednisolone pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q22.1	HNMT	138438059	138490404		Hon, Y. Y.  et al. 2006	16554448				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2			CDC GDP info	3176	Hs.42151			J Clin Pharmacol    2006    46(4)    408-17	Altered Methylprednisolone Pharmacodynamics in Healthy Subjects With Histamine N-Methyltransferase C314T Genetic Polymorphism		605238		CDC	2006												
149098		cortisol histamine	METABOLIC	MET		2	2q22.1	HNMT	138438059	138490404		Hon, Y. Y.  et al. 2006	16669609				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Chinese;African American;CaucIndian		CDC GDP info	3176	Hs.42151			Mol Diagn Ther    2006    10(2)    109-14	Endogenous Histamine and Cortisol Levels in Subjects with Different Histamine N-Methyltransferase C314T Genotypes		605238		CDC	2006	Wide variability of plasma and whole-blood histamine levels was observed in subjects with different HNMT C314T genotypes. Endogenous levels of histamine are likely to be affected by various genes and polymorphisms.											
149099		alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	2	2q22.1	HNMT	138438059	138490404		Reuter, M.  et al. 2006	16950574				Histamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006895.2	Caucasian;German;Indian	Germany	CDC GDP info	3176	Hs.42151			Drug Alcohol Depend    2006	Association of THR105Ile, a functional polymorphism of histamine N-methyltransferase (HNMT), with alcoholism in German Caucasians		605238		CDC	2006	In German Caucasians the association of the HNMT Thr105Ile polymorphism with alcoholism was not replicated per se, but a congruent association was found between the Ile105 allele and family history of alcoholism supporting the protective role of the Ile105 allele against alcoholism.											
149100	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	19	19q13.2	HNRPUL1	46460263	46505437		Shiffman, D.  et al. 2006	16690874				Heterogeneous nuclear ribonucleoprotein U-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007040			CDC GDP info	11100	Hs.155218			Arterioscler Thromb Vasc Biol    2006	Gene Variants of VAMP8 and HNRPUL1 Are Associated With Early-Onset Myocardial Infarction				CDC	2006	Variants in 2 genes were associated with early-onset MI: VAMP8, which is involved in platelet degranulation, and HNRPUL1, which encodes a ribonuclear protein. The identification of these variants could improve understanding of disease mechanisms and suggest novel drug targets.											
149102		head growth	DEVELOPMENTAL	DEV	Fragile X Syndrome|Autistic Disorder	7	7p15.3	HOXA1	27099138	27102150		Muscarella, L. A.  et al. 2006	17171652				Homeo box A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005522.4			CDC GDP info	3198	Hs.67397			Am J Med Genet B Neuropsychiatr Genet    2006	HOXA1 gene variants influence head growth rates in humans		142955		CDC	2006												
149103		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	7	7p15-p14	HOXA13	27203023	27206250		Garcia-Barcelo, M. M.  et al. 2007	17274802				Homeobox A13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000522			CDC GDP info	3209	Hs.592172			Ann Hum Genet    2007	Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease		142959		CDC	2007												
149104		hypospadias	METABOLIC	MET	Hypospadias	7	7p15-p14	HOXA4	27134534	27136924		Chen, T.  et al. 2006	17003840				homeobox A4				CDC GDP info	3201	Hs.654466			Eur J Hum Genet    2006	Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias		142953		CDC	2006												
149105		hypospadias	METABOLIC	MET	Hypospadias	17	17q21.3	HOXB6	44028097	44037333		Chen, T.  et al. 2006	17003840				Homeobox B6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018952			CDC GDP info	3216	Hs.98428			Eur J Hum Genet    2006	Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias		142961		CDC	2006												
149106		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	17	17q21.3	HOXB7	44039593	44043382		Garcia-Barcelo, M. M.  et al. 2007	17274802				Homeobox B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK223249			CDC GDP info	3217	Hs.436181			Ann Hum Genet    2007	Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease		142962		CDC	2007												
149107	Y	talipes equinovarus	DEVELOPMENTAL	DEV		2	2q31.1	HOXD10	176689737	176692916		Wang, L.  et al. 2005	16331564				Homeobox D10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002148			CDC GDP info	3236	Hs.123070			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2005    22(6)    653-6	Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus.		142984		CDC	2005	rs847154 located in 5\ flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.											
149108		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	2	2q31.1	HOXD10	176689737	176692916		Gurnett, C. A.  et al. 2007	17417092				Homeobox D10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002148			CDC GDP info	3236	Hs.123070			Clin Orthop Relat Res    2007	Absence of HOXD10 Mutations in Idiopathic Clubfoot and Sporadic Vertical Talus		142984		CDC	2007												
149109	Y	talipes equinovarus	DEVELOPMENTAL	DEV		2	2q31-q32|2q31.1	HOXD12	176672775	176673734		Wang, L.  et al. 2005	16331564				Homeobox D12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC121103			CDC GDP info	3238	Hs.450028			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2005    22(6)    653-6	Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus.		142988		CDC	2005	rs847154 located in 5\ flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.											
149111	Y	cryptochidism	DEVELOPMENTAL	DEV	Cryptorchidism	2	2q31.1	HOXD13	176665777	176668912		Wang, Y.  et al. 2007	17216618	HOXD13 180A>G (A60A)			Homeobox D13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000523			CDC GDP info	3239	Hs.152414			Birth Defects Res A Clin Mol Teratol    2007	Allelic variants in HOX genes in cryptorchidism		142989		CDC	2007	The variant 180A>G (A60A) in HOXD13 is a risk factor for cryptorchidism, and a dynamic equilibrium of genes in HOX paralog 13 is involved in the pathogenesis of cryptorchidism.											
149112	Y	haptoglobin	HEMATOLOGICAL	HEM	Parasitemia|Malaria|Sickle Cell Trait	16	16q22.1	HP	70646008	70652458			16407342				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2		Gabon	CDC GDP info	3240	Hs.134406			Am J Trop Med Hyg    2006    74(1)    26-30	ASSOCIATION OF HAPTOGLOBIN LEVELS WITH AGE, PARASITE DENSITY, AND HAPTOGLOBIN GENOTYPE IN A MALARIA-ENDEMIC AREA OF GABON		140100		CDC	2006												
149113		anemia	HEMATOLOGICAL	HEM	Parasitemia|Malaria|Anemia	16	16q22.1	HP	70646008	70652458		Atkinson, S. H.  et al. 2006	16637741				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Gambia	Gambia	CDC GDP info	3240	Hs.134406			PLoS Med    2006    3(5)    e172	Seasonal Childhood Anaemia in West Africa Is Associated with the Haptoglobin 2-2 Genotype		140100		CDC	2006	The finding that haptoglobin 2-2 genotype is a risk factor for anaemia in children in a malaria-endemic area may reflect the reduced ability of the Hp2-2 polymer to scavenge free haemoglobin-iron following malaria-induced haemolysis. The magnitude of the effect of haptoglobin genotype (4 g/l Hb difference, p = 0.0009) was comparable to that of G6PD deficiency or HbAS (3 g/l difference, p = 0.03; and 2 g/l difference, p = 0.68, respectively).											
149115	Y	preeclampsia	REPRODUCTION	REP	Proteinuria|Pre-Eclampsia|Hypertension	16	16q22.1	HP	70646008	70652458		Depypere, H. T.  et al. 2006	16879055				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Caucasian		CDC GDP info	3240	Hs.134406			Clin Chem Lab Med    2006    44(8)    924-8	Haptoglobin polymorphism in patients with preeclampsia		140100		CDC	2006	The Hp1 allele frequency was higher among preeclamptic patients and the Hp 1-1 phenotype was associated with more severe hypertension and proteinuria.											
149117	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Conway, B. R.  et al. 2007	17220636				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Caucasian;European	Ireland	CDC GDP info	3240	Hs.134406			Nephron Exp Nephrol    2007    105(3)    e75-e79	Association between Haptoglobin Gene Variants and Diabetic Nephropathy		140100		CDC	2007	The results suggest that the Hp(2) allele may confer susceptibility to nephropathy in patients with type 1 diabetes.											
149118	N	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus	16	16q22.1	HP	70646008	70652458		Wobeto, V. P.  et al. 2007	17275123				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Brazilian		CDC GDP info	3240	Hs.134406			Diabetes Res Clin Pract    2007	Haptoglobin polymorphism and diabetic retinopathy in Brazilian patients		140100		CDC	2007	this polymorphism is not associated with the presence of DR in the Brazilian population studied here.											
149119		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Atkinson, S. H.  et al. 2007	17304451				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2		Kenya	CDC GDP info	3240	Hs.134406			Clin Infect Dis    2007    44(6)    802-9	The Haptoglobin 2-2 Genotype Is Associated with a Reduced Incidence of Plasmodium falciparum Malaria in Children on the Coast of Kenya		140100		CDC	2007	Balancing selection pressures may have influenced the spread of the Hp gene.											
149120	Y	cholangitis, sclerosing Crohn's disease inflammatory bowel disease	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Crohn Disease|Disease Progression|Genetic Predisposition to Disease	16	16q22.1	HP	70646008	70652458		Papp, M.  et al. 2007	17357835				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDP info	3240	Hs.134406			Dig Dis Sci    2007	Haptoglobin Polymorphisms Are Associated with Crohn's Disease, Disease Behavior, and Extraintestinal Manifestations in Hungarian Patients		140100		CDC	2007	the Hp polymorphism is associated with CD, inflammatory disease behavior, and primary sclerosing cholangitis in Hungarian patients.											
149121	Y	malaria, plasmodium falciparum	INFECTION	INF		16	16q22.1	HP	70646008	70652458		Cox, S. E.  et al. 2007	17426810	A-61C SNP		promoter	Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Gambia		CDC GDP info	3240	Hs.134406	decreased Hp protein levels		PLoS ONE    2007    2    e362	Haplotype Association between Haptoglobin (Hp2) and Hp Promoter SNP (A-61C) May Explain Previous Controversy of Haptoglobin and Malaria Protection		140100		CDC	2007	 We propose that previous conflicting results between Hp phenotypes/genotypes and malaria susceptibility may be explained by differing prevalence of the A-61C SNP in the populations studied, which we found to be highly associated with the Hp2 allele. We report the -61C allele to be associated with decreased Hp protein levels (independent of Hp phenotype), confirming in vitro studies. Decreased Hp expression may lead to increased oxidant stress and increased red cell turnover, and facilitate the development of acquired immunity, similar to a mechanism suggested for sickle cell trait.											
149122	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q11-q13.2	HPN	40223249	40249315		Pal, P.  et al. 2006	16783571				Hepsin (transmembrane protease, serine 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182983.1	European		CDC GDP info	3249	Hs.182385			Hum Genet    2006	Variants in the HEPSIN gene are associated with prostate cancer in men of European origin		142440		CDC	2006												
149123		Hermansky-Pudlak syndrome	DEVELOPMENTAL	DEV	Albinism, Oculocutaneous|Hermanski-Pudlak Syndrome	10	10q23.1-q23.3	HPS1	100165945	100196694			16417222				Hermansky-Pudlak syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000195			CDC GDP info	3257	Hs.404568			J Invest Dermatol    2006    126(1)    85-90	Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico		604982		CDC	2006												
149124		colitis	UNKNOWN	UNK	Colitis|Hermanski-Pudlak Syndrome	10	10q23.1-q23.3	HPS1	100165945	100196694		Hussain, N.  et al. 2006	16431308				Hermansky-Pudlak syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000195			CDC GDP info	3257	Hs.404568			Clin Gastroenterol Hepatol    2006    4(1)    73-80	Intestinal disease in Hermansky-Pudlak syndrome		604982		CDC	2006	There is an increased frequency of colitis in our population of 122 HPS patients (8/122, 7%) and in HPS patients referred specifically for symptom evaluation (8/24, 33%). Colitis was found in patients with HPS-1 and HPS-4 genotypes.											
149126		colitis	UNKNOWN	UNK	Colitis|Hermanski-Pudlak Syndrome	22	22cen-q12.3	HPS4	25177445	25209820		Hussain, N.  et al. 2006	16431308				Hermansky-Pudlak syndrome 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022081			CDC GDP info	89781	Hs.474436			Clin Gastroenterol Hepatol    2006    4(1)    73-80	Intestinal disease in Hermansky-Pudlak syndrome		606682		CDC	2006	There is an increased frequency of colitis in our population of 122 HPS patients (8/122, 7%) and in HPS patients referred specifically for symptom evaluation (8/24, 33%). Colitis was found in patients with HPS-1 and HPS-4 genotypes.											
149128	Y	Hodgkin's disease leukemia, myeloid multiple myeloma myelodysplastic syndrome	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Leukemia, Myeloid, Acute|Hodgkin Disease|Multiple Myeloma|Hematologic Neoplasms|Myelodysplastic Syndromes	4	4q21.3	HPSE	84435496	84475330		Ostrovsky, O.  et al. 2007	17611567				Heparanase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006665.3			CDC GDP info	10855	Hs.44227			Leukemia    2007	Association of heparanase gene (HPSE) single nucleotide polymorphisms with hematological malignancies		604724		CDC	2007	Association of HPSE gene SNPs with ALL											
149129		oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	11	11p15.5	HRAS	522241	525550		Sathyan, K. M.  et al. 2006	16488657				V-Ha-ras Harvey rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005343.2			CDC GDP info	3265	Hs.37003			Oral Oncol    2006	Influence of single nucleotide polymorphisms in H-Ras and cyclin D1 genes on oral cancer susceptibility		190020		CDC	2006												
149130	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hyperandrogenism	1	1q32-q41	HSD11B1	207926172	207974918		Gambineri, A.  et al. 2006	16551740				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2	Caucasian		CDC GDP info	3290	Hs.195040			J Clin Endocrinol Metab    2006	GENETIC VARIATION IN 11{beta}-HYDROXYSTEROID DEHYDROGENASE TYPE 1 PREDICTS ADRENAL HYPERANDROGENISM AMONGST LEAN WOMEN WITH POLYCYSTIC OVARY SYNDROME		600713		CDC	2006	Genetic variation in 11beta-HSD1 contributes to enhanced cortisol clearance and compensatory adrenal hyperandrogenism in lean patients with PCOS but may be protective against obesity and some features of the metabolic syndrome.		obesity									
149131	N	androgen, adrenal blood pressure, arterial body mass dementia glucose	NEUROLOGICAL	NEUR	Dementia	1	1q32-q41	HSD11B1	207926172	207974918		Smit, P.  et al. 2006	17062770				Hydroxysteroid (11-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005525.2	Caucasian		CDC GDP info	3290	Hs.195040			J Clin Endocrinol Metab    2006	Lack of Association of the 11{beta}-Hydroxysteroid Dehydrogenase Type 1 Gene 83,557insA and Hexose-6-Phosphate Dehydrogenase Gene R453Q Polymorphisms with Body Composition, Adrenal Androgen Production, Blood Pressure, Glucose Metabolism and Dementia		600713		CDC	2006	Two population-based studies among Caucasian elderly showed no evidence for (combined) effects of two polymorphisms in the HSD11B1 and H6PD genes on body composition, adrenal androgen production, blood pressure, glucose metabolism, and incidence of dementia. Moreover, the high frequencies observed for these two polymorphisms do not correspond to the low incidence of CRD observed in the general population. Altogether, it is unlikely that these polymorphisms cause CRD.											
149132		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	16	16q22	HSD11B2	66022536	66028955		Kamide, K.  et al. 2006	16778331				Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDP info	3291	Hs.1376			Hypertens Res    2006    29(4)    243-52	Genetic Variations of HSD11B2 in Hypertensive Patients and in the General Population, Six Rare Missense/Frameshift Mutations		218030		CDC	2006												
149134		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757		Feigelson, H. S., et. al.  et al. 2006	16489054				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Caucasian		CDC GDP info	3292	Hs.50727			Cancer Res    2006    66(4)    2468-75	Haplotype Analysis of the HSD17B1 Gene and Risk of Breast Cancer		109684		CDC	2006												
149135		mamographic density	CANCER	CAN	Breast Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Warren, R.  et al. 2006	16896040				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	European		CDC GDP info	3292	Hs.50727			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		109684		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
149136	Y	diabetes, type 2 insulin metabolic syndrome	METABOLIC	MET	Diabetes Mellitus|Insulin Resistance	17	17q11-q21	HSD17B1	37957509	37960757		Lo, J. C.  et al. 2006	16949391				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Japanese;Chinese;African American;Caucasian		CDC GDP info	3292	Hs.50727			Am J Med    2006    119(9 Suppl 1)    S69-78	The association of genetic polymorphisms in sex hormone biosynthesis and action with insulin sensitivity and diabetes mellitus in women at midlife		109684		CDC	2006												
149137		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Silva, S. N.  et al. 2006	16969494				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	Indian;Portuguese		CDC GDP info	3292	Hs.50727			Oncol Rep    2006    16(4)    781-8	Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD)		109684		CDC	2006			breast feeding									
149138		androgens endometrial cancer estrogens progesterone	CANCER	CAN	Endometrial Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Olson, S. H.  et al. 2006	17110639				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDP info	3292	Hs.50727			Am J Epidemiol    2006	Variants in Estrogen Biosynthesis Genes, Sex Steroid Hormone Levels, and Endometrial Cancer		109684		CDC	2006	indicate the need to study other variants and haplotypes in these genes, particularly CYP17A1 and CYP19A1, as well as variants in other genes involved in hormone biosynthesis and metabolism pathways.											
149139	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Dai, Q.  et al. 2007	17301695				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDP info	3292	Hs.50727			Pharmacogenet Genomics    2007    17(2)    161-7	Interaction of soy and 17beta-HSD1 gene polymorphisms in the risk of endometrial cancer		109684		CDC	2007	Our results suggest that soy consumption may interact with polymorphisms in the 17beta-HSD1 gene in relation to endometrial cancer risk. Further studies are warranted to confirm our results.		soy isoflavone									
149141		breast cancer	CANCER	CAN		17	17q11-q21	HSD17B1	37957509	37960757		Justenhoven, C.  et al. 2007	17588204				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1	German		CDC GDP info	3292	Hs.50727			Breast Cancer Res Treat    2007	Breast cancer		109684		CDC	2007			body mass									
149143		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	16	16q24.1-q24.2	HSD17B2	80626363	80689638		Jansson, A.  et al. 2007	17260097				Hydroxysteroid (17-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002153.1			CDC GDP info	3294	Hs.162795			Breast Cancer Res Treat    2007	A new polymorphism in the coding region of exon four in HSD17B2 in relation to risk of sporadic and hereditary breast cancer		109685		CDC	2007												
149144		prostate cancer	CANCER	CAN	Prostatic Neoplasms	16	16q24.1-q24.2	HSD17B2	80626363	80689638		Cunningham, J. M.  et al. 2007	17507624				Hydroxysteroid (17-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002153.1			CDC GDP info	3294	Hs.162795			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		109685		CDC	2007												
149146	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	10	10p15-p14	HSD17B5	5126609	5131577		Petry, C. J.  et al. 2007	17583494				ldo-keto reductase family 1, member C3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ939577			CDC GDP info	8644	Hs.78183			J Steroid Biochem Mol Biol    2007	Lack of association between common polymorphisms in the 17beta-hydroxysteroid dehydrogenase type V gene (HSD17B5) and precocious pubarche				CDC	2007	HSD17B5 SNPs predicted to have functional effects do not appear to be a risk factor for PP in girls from Barcelona, despite these girls being at high risk of developing androgen excess in adulthood.											
149147	Y	adrogen body mass insulin polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	12	12q13	HSD17B6	55443374	55467841		Jones, M. R.  et al. 2006	17070195				Hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003725	Caucasian	Western Australia	CDC GDP info	8630	Hs.524513			Fertil Steril    2006    86(5)    1438-46	Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome				CDC	2006	These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.											
149148		body mass	METABOLIC	MET		1	1p13.1	HSD3B1	119851348	119859204		Vohl, M. C.  et al. 1994	16353595				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1	Quebec		CDC GDP info	3283	Hs.364941			Obes Res    1994    2(5)    444-9	Relation between BglII polymorphism in 3beta-hydroxysteroid dehydrogenase gene and adipose tissue distribution in humans		109715		CDC	1994												
149149		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.1	HSD3B1	119851348	119859204		Cunningham, J. M.  et al. 2007	17507624				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDP info	3283	Hs.364941			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		109715		CDC	2007												
149150		menarche menopause	REPRODUCTION	REP		1	1p13.1	HSD3B1	119851348	119859204		Mitchell, E. S.  et al. 2007	17589376				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000862.1			CDC GDP info	3283	Hs.364941			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		109715		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
149152	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	1	1p13.1	HSD3B2	119758792	119790645		Xin, X.  et al. 2006	16648810				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415		China	CDC GDP info	3284	Hs.825			Neuro Endocrinol Lett    2006    27(1-2)	Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls		201810		CDC	2006	Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.											
149153	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.1	HSD3B2	119758792	119790645		Berndt, S. I.  et al. 2007	17220347				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415	non-Hispanic		CDC GDP info	3284	Hs.825			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		201810		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
149155		menarche menopause	REPRODUCTION	REP		1	1p13.1	HSD3B2	119758792	119790645		Mitchell, E. S.  et al. 2007	17589376				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDP info	3284	Hs.825			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		201810		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
149156	Y	kidney transplant	RENAL	REN	Inflammation	6	6p21.3	HSPA1A	31891298	31893698		Fekete, A.  et al. 2006	16441767				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Transpl Int    2006    19(3)    190-6	Association between heat shock protein 70s and Toll-like receptor polymorphisms with long-term renal allograft survival		140550		CDC	2006												
149157		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	6	6p21.3	HSPA1A	31891298	31893698			16538175				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Pharmacogenet Genomics    2006    16(4)    287-296	Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster		140550		CDC	2006	Our data show that HSP70 gene variants are associated with serious CBZ hypersensitivity reactions, but whether this is causal or reflects LD with another gene within the MHC requires further study.											
149158		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698			16538176				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		140550		CDC	2006												
149159		longevity	AGING	AGE		6	6p21.3	HSPA1A	31891298	31893698		Singh, R.  et al. 2006	16804002				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Ann N Y Acad Sci    2006    1067    301-8	Heat-shock protein 70 genes and human longevity		140550		CDC	2006												
149161		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	6	6p21.3	HSPA1A	31891298	31893698		Pae, C. U.  et al. 2007	17428599				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Prog Neuropsychopharmacol Biol Psychiatry    2007	Heat-shock protein-70 genes and response to antidepressants in major depression		140550		CDC	2007	genetic variants within the genes coding for HSP-70 family proteins may affect the action of antidepressants and thus their therapeutic efficacy.		antidepressants									
149162		stroke, ischemic	CARDIOVASCULAR	CARD		6	6p21.3	HSPA1A	31891298	31893698		Liu, J.  et al. 2007	17555092				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Wei Sheng Yan Jiu    2007    36(2)    169-71	Study of genetic polymorphism of heat shock protein 70-1 associated with susceptibility to ischemic stroke		140550		CDC	2007	of conditional logistic regression demonstrated that HSP70, hypertension and smoking were independent risk factors of ischemic stroke, and their OR values were 5.											
149163		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	6	6p21.3	HSPA1A	31891298	31893698		Liu, J.  et al. 2007	17582394				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Clin Chim Acta    2007	Effects of polymorphisms of heat shock protein 70 gene on ischemic stroke, and interaction with smoking in China		140550		CDC	2007	HSP70-1+190G/C may affect susceptibility to IS and smoking along with HSP70-1+190G/C may increase the risk of IS.		smoking (tobacco)									
149165	Y	kidney transplant	RENAL	REN	Inflammation	6	6p21.3	HSPA1B	31903502	31906010		Fekete, A.  et al. 2006	16441767				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Transpl Int    2006    19(3)    190-6	Association between heat shock protein 70s and Toll-like receptor polymorphisms with long-term renal allograft survival		603012		CDC	2006												
149166		infection, post surgical	INFECTION	INF	Cross Infection|Critical Illness	6	6p21.3	HSPA1B	31903502	31906010			16525348				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Shock    2006    25(2)    117-22	Polymorphisms of heat shock protein-70 (hspa1b and hspa1l Loci) do not influence infection or outcome risk in critically ill surgical patients		603012		CDC	2006												
149168	Y	atherosclerosis, coronary carotid artery damage	CARDIOVASCULAR	CARD	Carotid Stenosis|Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Giacconi, R.  et al. 2006	16953332	1267 HSP70-2			heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Biogerontology    2006	Involvement of -308 TNF-alpha and 1267 Hsp70-2 polymorphisms and zinc status in the susceptibility of coronary artery disease (CAD) in old patients		603012		CDC	2006	1267 HSP70-2 polymorphism and zinc deficiency, rather than -308 TNF-alpha, are independently associated with CAD. B + A+ and B + A- carriers seem more predisposed to ischaemic events; conversely, B - A- genotype may be considered a protective marker against CAD.											
149169	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Zouiten-Mekki, L.  et al. 2007	17301649				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3	Tunisian		CDC GDP info	3304	Hs.274402			Eur J Gastroenterol Hepatol    2007    19(3)    225-8	Crohn's disease and polymorphism of heat shock protein gene HSP70-2 in the Tunisian population		603012		CDC	2007												
149170	Y	urinary tract infection	INFECTION	INF	Urinary Tract Infections|Recurrence	6	6p21.3	HSPA1B	31903502	31906010		Karoly, E.  et al. 2007	17314700				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Pediatr Res    2007    61(3)    371-374	Heat Shock Protein 72 (HSPA1B) Gene Polymorphism and Toll-Like Receptor (TLR) 4 Mutation Are Associated with Increased Risk of Urinary Tract Infection in Children		603012		CDC	2007												
149172		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	6	6p21.3	HSPA1B	31903502	31906010		Liu, J.  et al. 2007	17582394				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Clin Chim Acta    2007	Effects of polymorphisms of heat shock protein 70 gene on ischemic stroke, and interaction with smoking in China		603012		CDC	2007	HSP70-1+190G/C may affect susceptibility to IS and smoking along with HSP70-1+190G/C may increase the risk of IS.		smoking (tobacco)									
149173		infection, post surgical	INFECTION	INF	Cross Infection|Critical Illness	6	6p21.3	HSPA1L	31885374	31890814			16525348				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Shock    2006    25(2)    117-22	Polymorphisms of heat shock protein-70 (hspa1b and hspa1l Loci) do not influence infection or outcome risk in critically ill surgical patients		140559		CDC	2006												
149174		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	6	6p21.3	HSPA1L	31885374	31890814			16538175				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Pharmacogenet Genomics    2006    16(4)    287-296	Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster		140559		CDC	2006	Our data show that HSP70 gene variants are associated with serious CBZ hypersensitivity reactions, but whether this is causal or reflects LD with another gene within the MHC requires further study.											
149176	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Syndrome|Acute Disease|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Bogunia-Kubik, K.  et al. 2006	16611259				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Polish		CDC GDP info	3305	Hs.558337			Int J Immunogenet    2006    33(2)    135-40	HSP70-hom gene single nucleotide (+2763 G/A and +2437 C/T) polymorphisms in sarcoidosis		140559		CDC	2006	HSP(+2437)-C allele was found as a factor associating with susceptibility to sarcoidosis and LS.											
149177	Y	hearing loss, noise-induced	OTHER	OTH	Hearing Loss, Noise-Induced	6	6p21.3	HSPA1L	31885374	31890814		Yang, M.  et al. 2006	17009596				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2		China	CDC GDP info	3305	Hs.558337			Cell Stress Chaperones    2006    11(3)    233-9	Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers		140559		CDC	2006												
149178		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	6	6p21.3	HSPA1L	31885374	31890814		Pae, C. U.  et al. 2007	17428599				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Prog Neuropsychopharmacol Biol Psychiatry    2007	Heat-shock protein-70 genes and response to antidepressants in major depression		140559		CDC	2007	genetic variants within the genes coding for HSP-70 family proteins may affect the action of antidepressants and thus their therapeutic efficacy.		antidepressants									
149179	Y	prostate cancer	CANCER	CAN		6	6p21.3	HSPA1L	31885374	31890814		Sfar, S.  et al. 2007	17578680				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2	Tunisian		CDC GDP info	3305	Hs.558337			Mol Biol Rep    2007	Association of HSP70-hom genetic variant with prostate cancer risk		140559		CDC	2007												
149182		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	14	14q24.1	HSPA2	64072375	64079707		Granados, J.  et al. 2006	16875346				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Caucasian;Mexican		CDC GDP info	3306	Hs.432648			Gac Med Mex    2006    142(3)    195-9	Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population		140560		CDC	2006												
149183	Y	hearing loss, noise-induced	OTHER	OTH	Hearing Loss, Noise-Induced	14	14q24.1	HSPA2	64072375	64079707		Yang, M.  et al. 2006	17009596				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2		China	CDC GDP info	3306	Hs.432648			Cell Stress Chaperones    2006    11(3)    233-9	Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers		140560		CDC	2006												
149184	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	14	14q24.1	HSPA2	64072375	64079707		Nam, S. Y.  et al. 2007	17532782				Heat shock 70kDa protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021979.2	Korean		CDC GDP info	3306	Hs.432648			J Gastroenterol Hepatol    2007	Heat shock protein gene 70-2 polymorphism is differentially associated with the clinical phenotypes of ulcerative colitis and Crohn's disease		140560		CDC	2007	CD patients with BB genotype of HSP70-2 polymorphism tend to experience a more severe clinical course and allele A is associated with more severe UC. HSP70-2 polymorphism may be used to predict CD and UC phenotypes, which can illuminate immunological differences in CD and UC.											
149186	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	2		HSPD1	198059552	198073243		Deluca, G. C.  et al. 2007	17420921				Heat shock 60kDa protein 1 (chaperonin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002156.4			CDC GDP info	3329	Hs.595053			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		118190		CDC	2007												
149187		spastic paralysis	NEUROLOGICAL	NEUR	Spastic Paraplegia, Hereditary	2		HSPD1	198059552	198073243		Hansen, J.  et al. 2007	17420924				Heat shock 60kDa protein 1 (chaperonin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002156.4	Danish;French		CDC GDP info	3329	Hs.595053			J Neurol    2007	A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia		118190		CDC	2007												
149188	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2q33.1	HSPE1	198073364	198076416		Ralph, S.  et al. 2007	17419711				Heat shock 10kDa protein 1 (chaperonin 10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BU517060			CDC GDP info	3336	Hs.1197			Cancer Sci    2007	Heparanase gene haplotype (CGC) is associated with stage of disease in patients with ovarian carcinoma		600141		CDC	2007												
149189		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.1-p35	HSPG2	22021323	22136337		Wang, B.  et al. 2007	17356275				Heparan sulfate proteoglycan 2 (perlecan)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005529.3			CDC GDP info	3339	Hs.562227			Dement Geriatr Cogn Disord    2007    23(5)    312-315	HSPG2 Gene C/A Polymorphism Does Not Confer Susceptibility to Alzheimer's Disease in Chinese		142461		CDC	2007												
149191		5-HT1A receptor binding	NORMALVARIATION	NV		5	5q11.2-q13	HTR1A	63292033	63293302		David, S. P.  et al. 2005	15758168				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			J Neurosci    2005    25(10)    2586-90	A functional genetic variation of the serotonin (5-HT) transporter affects 5-HT1A receptor binding in humans		109760		CDC	2005												
149192		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Yu, Y. W.  et al. 2006	16458487				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Eur Neuropsychopharmacol    2006	Association study of two serotonin 1A receptor gene polymorphisms and fluoxetine treatment response in Chinese major depressive disorders		109760		CDC	2006			fluoxetine									
149193	N	dyspepsia	OTHER	OTH	Dyspepsia	5	5q11.2-q13	HTR1A	63292033	63293302		Camilleri, C. E.  et al. 2006	16464220				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		109760		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
149195		panic disorder	PSYCH	PSY	Panic Disorder	5	5q11.2-q13	HTR1A	63292033	63293302			16538182				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Psychiatr Genet    2006    16(2)    59-65	Interaction of serotonergic and noradrenergic gene variants in panic disorder		109760		CDC	2006	This is the first possible interaction of genetic variations in panic disorder that has been observed.											
149196	N	suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Wasserman, D.  et al. 2006	16626484				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Behav Brain Funct    2006    2(1)    14	The serotonin 1A receptor C(-1019)G polymorphism in relation to suicide attempt		109760		CDC	2006	The current results show that variation at the rs6295 polymorphism of the HTR1A gene is not associated with suicide attempts generally.											
149197	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	5	5q11.2-q13	HTR1A	63292033	63293302		Lane, H. Y.  et al. 2006	16633140				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		109760		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
149198	N	migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders	5	5q11.2-q13	HTR1A	63292033	63293302		Yang, X. S.  et al. 2006	16722981	HTR1A  C-1019G		promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Eur J Neurol    2006    13(5)    533-5	No association of C-1019G promoter polymorphism of 5-HT1A receptor gene with migraine		109760		CDC	2006												
149200		smoking behavior	CHEMDEPENDENCY	CHEM		5	5q11.2-q13	HTR1A	63292033	63293302		Lerer, E.  et al. 2006	16770336				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Israeli	Israel	CDC GDP info	3350	Hs.247940			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		109760		CDC	2006												
149201		suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Videtic, A.  et al. 2006	16856120				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Am J Med Genet B Neuropsychiatr Genet    2006	Association study of seven polymorphisms in four serotonin receptor genes on suicide victims		109760		CDC	2006												
149202		suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Rujescu, D.  et al. 2006	16964084				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Psychiatr Danub    2006    18(Suppl-1)    121	HTR2C, HTR1A, NOS-I AND NOS-III GENE VARIANTS IN GERMAN AND ITALIAN SUICIDE ATTEMPTERS AND COMPLETERS		109760		CDC	2006												
149203		suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Videtic, A.  et al. 2006	16964176				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Psychiatr Danub    2006    18 Suppl 1    157	Association study of genes involved in serotonergic signaling pathway and suicide completion		109760		CDC	2006												
149206	N	aggressive behavior anger behavior suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Serretti, A.  et al. 2006	17192951				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Caucasian;German;Italian		CDC GDP info	3350	Hs.247940			Am J Med Genet B Neuropsychiatr Genet    2006	HTR2C and HTR1A gene variants in German and Italian suicide attempters and completers		109760		CDC	2006	our study does not support the notion that HTR2C and HTR1A gene variants are major contributors to suicide-, anger-, or aggression-related behaviors in our sample.											
149207		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	5	5q11.2-q13	HTR1A	63292033	63293302		Coutinho, A. M.  et al. 2007	17203304				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		109760		CDC	2007												
149208		alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	5	5q11.2-q13	HTR1A	63292033	63293302		Wojnar, M.  et al. 2006	17217240				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Psychiatr Pol    2006    40(5)    985-94	Influence of impulsivity, suicidality and serotonin genes on treatment outcomes in alcohol dependence		109760		CDC	2006	High level of suicidality may predict relapse in alcoholic patients.		suicide attempt									
149209		depression	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Anttila, S.  et al. 2007	17401528				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			J Neural Transm    2007	Interaction between 5-HT1A and BDNF genotypes increases the risk of treatment-resistant depression		109760		CDC	2007												
149211	Y	migraine migraine with aura	NEUROLOGICAL	NEUR		5	5q11.2-q13	HTR1A	63292033	63293302		Marziniak, M.  et al. 2007	17417740				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			J Neural Transm    2007	Functional polymorphisms of the 5-HT1A and 5-HT1B receptor are associated with clinical symptoms in migraineurs		109760		CDC	2007			physical activity									
149212		macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization|Genetic Predisposition to Disease	5	5q11.2-q13	HTR1A	63292033	63293302		Cameron, D. J.  et al. 2007	17426452				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Cell Cycle    2007    6(9)	HTRA1 Variant Confers Similar Risks to Geographic Atrophy and Neovascular Age-related Macular Degeneration		109760		CDC	2007												
149214		depression	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Zanardi, R.  et al. 2007	17466494				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Eur Neuropsychopharmacol    2007	Role of serotonergic gene polymorphisms on response to transcranial magnetic stimulation in depression		109760		CDC	2007			transcranial magnetic stimulation									
149215		hostility personality traits	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Keltikangas-Jarvinen, L.  et al. 2007	17504248				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Genes Brain Behav    2007	Serotonin receptor genes 5HT1A and 5HT2A modify the relation between childhood temperament and adulthood hostility		109760		CDC	2007			childhood hyperactivity									
149216		depression	PHARMACOGENOMIC	PHARM		5	5q11.2-q13	HTR1A	63292033	63293302		Levin, G. M.  et al. 2007	17570737				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Mol Diagn Ther    2007    11(3)    155-60	Assessment of Human Serotonin 1A Receptor Polymorphisms and SSRI Responsiveness		109760		CDC	2007	While the study has several limitations, the results are consistent with a growing body of literature that suggests that the pharmacogenetics of depression (an inherently complex disorder) may turn out to be multifactorial, and may include the HTR1A gene in concert with other serotonin-related genes.		selective serotonin reuptake inhibitors									
149217		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		182131		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149219		smoking behavior	CHEMDEPENDENCY	CHEM		6	6q13	HTR1B	78228666	78229839		Lerer, E.  et al. 2006	16770336				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1	Israeli	Israel	CDC GDP info	3351	Hs.123016			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		182131		CDC	2006												
149220		suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Videtic, A.  et al. 2006	16856120				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Am J Med Genet B Neuropsychiatr Genet    2006	Association study of seven polymorphisms in four serotonin receptor genes on suicide victims		182131		CDC	2006												
149221		attention deficit hyperactivity disorder	PSYCH	PSY	Obsessive-Compulsive Disorder|Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Ickowicz, A.  et al. 2006	16958036				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Am J Med Genet B Neuropsychiatr Genet    2006	The serotonin receptor HTR1B		182131		CDC	2006												
149222		suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Videtic, A.  et al. 2006	16964176				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Psychiatr Danub    2006    18 Suppl 1    157	Association study of genes involved in serotonergic signaling pathway and suicide completion		182131		CDC	2006												
149223		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Heiser, P.  et al. 2006	17093889				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			J Neural Transm    2006	Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample		182131		CDC	2006												
149225	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Laurin, N.  et al. 2007	17325714				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Mol Psychiatry    2007    12(3)    226-9	No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder		182131		CDC	2007												
149226	Y	migraine migraine with aura	NEUROLOGICAL	NEUR		6	6q13	HTR1B	78228666	78229839		Marziniak, M.  et al. 2007	17417740				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			J Neural Transm    2007	Functional polymorphisms of the 5-HT1A and 5-HT1B receptor are associated with clinical symptoms in migraineurs		182131		CDC	2007			physical activity									
149227		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Kim, J. W.  et al. 2007	17427194				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of parent-of-origin effects in ADHD candidate genes		182131		CDC	2007												
149229		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	6	6q13	HTR1B	78228666	78229839		Lasky-Su, J.  et al. 2007	17501935				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Ann Hum Genet    2007	Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder		182131		CDC	2007	await independent replication, these results suggest that a variant in DRD5 may affect age at onset for ADHD.											
149231	N	suicide	PSYCH	PSY		6	6q13	HTR1B	78228666	78229839		Kia-Keating, B. M.  et al. 2007	17525973				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Am J Med Genet B Neuropsychiatr Genet    2007	Meta-analyses suggest association between COMT, but not HTR1B, alleles, and suicidal behavior		182131		CDC	2007												
149232		migraine	PHARMACOGENOMIC	PHARM	Migraine without Aura	6	6q13	HTR1B	78228666	78229839		Asuni, C.  et al. 2007	17563839				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			J Headache Pain    2007	Association study between clinical response to rizatriptan and some candidate genes		182131		CDC	2007			rizatriptan									
149233		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		1	1p36.3-p34.3	HTR1D	23390974	23393809		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDP info	3352	Hs.121482			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		182133		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149234		anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	1	1p36.3-p34.3	HTR1D	23390974	23393809		Brown, K. M.  et al. 2006	16806108				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3		Great Britain	CDC GDP info	3352	Hs.121482			Biol Psychiatry    2006	Further Evidence of Association of OPRD1 & HTR1D Polymorphisms with Susceptibility to Anorexia Nervosa		182133		CDC	2006	These data support the hypothesis that polymorphisms within this region form a component of the genetic basis to susceptibility to RAN.											
149235	Y	attention deficit hyperactivity disorder behavior disorder	PSYCH	PSY		1	1p36.3-p34.3	HTR1D	23390974	23393809		Li, J.  et al. 2006	17068621				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDP info	3352	Hs.121482			Beijing Da Xue Xue Bao    2006    38(5)    492-5	Association between serotonin 1D gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid disruptive behavior disorder.		182133		CDC	2006	ADHD comorbid or not comorbid DBD are different at the level of HTR1D gene polymrohisms of 1350T > C and 1236A > G. The current results indicate that ADHD with DBD has more heritable backgrounds when compared with ADHD without DBD.											
149236		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	1	1p36.3-p34.3	HTR1D	23390974	23393809		Li, J.  et al. 2006	17099886				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDP info	3352	Hs.121482			Am J Med Genet B Neuropsychiatr Genet    2006	The serotonin 5-HT1D receptor gene and attention-deficit hyperactivity disorder in Chinese Han subjects		182133		CDC	2006												
149237		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	1	1p36.3-p34.3	HTR1D	23390974	23393809		Coutinho, A. M.  et al. 2007	17203304				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDP info	3352	Hs.121482			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		182133		CDC	2007												
149238		migraine	PHARMACOGENOMIC	PHARM	Migraine Disorders	1	1p36.3-p34.3	HTR1D	23390974	23393809		Mehrotra, S.  et al. 2007	17501853				5-hydroxytryptamine (serotonin) receptor 1D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000864.3			CDC GDP info	3352	Hs.121482			Headache    2007    47(5)    711-6	The Phe-124-Cys and A-161T Variants of the Human 5-HT(1B) Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan		182133		CDC	2007	We have not obtained any evidence that variants F124C and A-161T of the 5-HT(1B) receptor are major determinants in the clinical response to sumatriptan.		sumatriptan									
149241		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		182135		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149242		Alzheimer's disease	NEUROLOGICAL	NEUR		13	13q14-q21	HTR2A	46305513	46368995		Thome, J.  et al. 2001	11692286				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			J Neural Transm    2001    108(10)    1175-1180	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease		182135		CDC	2001	These polymorphisms probably do not represent major genetic risk factors of AD. However, further studies including other genetic variants of the serotonergic neurotransmitter system are needed in order to elucidate their role in AD. 											
149243		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	13	13q14-q21	HTR2A	46305513	46368995		Dmitrzak-Weglarz, M.  et al. 2005	16382194				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Pharmacol Rep    2005    57(6)    761-5	Association studies of 5-HT2A and 5-HT2C serotonin receptor gene polymorphisms with prophylactic lithium response in bipolar patients		182135		CDC	2005			lithium									
149245		obsessive compulsive disorder	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Denys, D.  et al. 2006	16443280				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			J Affect Disord    2006	Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder		182135		CDC	2006	Our data yields interesting preliminary results as regards the genetic underpinnings of OCD phenotypes that warrant further discussion and investigation.											
149246		sleep disorders	OTHER	OTH	Sleep Apnea, Obstructive	13	13q14-q21	HTR2A	46305513	46368995		Bayazit, Y. A.  et al. 2006	16449821				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			ORL J Otorhinolaryngol Relat Spec    2006    68(3)    123-128	Association of the -1438G/A Polymorphism of the 5-HT(2A )Receptor Gene with Obstructive Sleep Apnea Syndrome		182135		CDC	2006	Serotonergic mechanisms appear to be related to OSAS.											
149247	N	dyspepsia	OTHER	OTH	Dyspepsia	13	13q14-q21	HTR2A	46305513	46368995		Camilleri, C. E.  et al. 2006	16464220				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		182135		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
149248	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Lane, H. Y.  et al. 2006	16633140				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		182135		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
149250		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	13	13q14-q21	HTR2A	46305513	46368995		Kling, A.  et al. 2006	16699051				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Ann Rheum Dis    2006    65(6)    816-9	Decreased density of serotonin 5-HT2A receptors in rheumatoid arthritis		182135		CDC	2006	The density of 5-HT2A serotonin receptors in patients with rheumatoid arthritis is markedly reduced. This could either reflect a difference involved in the susceptibility to the disease or be a secondary effect of the disease.											
149251	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Li, J.  et al. 2006	16701945				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Neurosci Lett    2006	No association of attention-deficit/hyperactivity disorder with genes of the serotonergic pathway in Han Chinese subjects		182135		CDC	2006												
149252		sexual side-effects	PHARMACOGENOMIC	PHARM	Sexual Dysfunction, Physiological|Sexual Dysfunctions, Psychological	13	13q14-q21	HTR2A	46305513	46368995		Bishop, J. R.  et al. 2006	16710319				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Neuropsychopharmacology    2006	Serotonin 2A -1438 G/A and G-Protein Beta3 Subunit C825T Polymorphisms in Patients with Depression and SSRI-Associated Sexual Side-Effects		182135		CDC	2006			antidepressants									
149253		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Li, J.  et al. 2006	16741915				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2006	Contribution of 5-HT2A receptor gene -1438A>G polymorphism to outcome of attention-deficit/hyperactivity disorder in adolescents		182135		CDC	2006												
149254	Y	seasonal affective disorder	PSYCH	PSY	Seasonal Affective Disorder	13	13q14-q21	HTR2A	46305513	46368995		Lee, H. J.  et al. 2006	16762419				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDP info	3356	Hs.72630			J Affect Disord    2006	Seasonality associated with the serotonin 2A receptor -1438 A/G polymorphism		182135		CDC	2006	These results suggest that the 5HTR2A -1438 A/G polymorphism is possibly related to seasonality in the Korean population.											
149257		smoking behavior	CHEMDEPENDENCY	CHEM		13	13q14-q21	HTR2A	46305513	46368995		Lerer, E.  et al. 2006	16770336				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Israeli	Israel	CDC GDP info	3356	Hs.72630			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		182135		CDC	2006												
149258		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Yamamoto, M.  et al. 2006	16778329				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Hypertens Res    2006    29(4)    227-32	Interaction between Serotonin 2A Receptor and Endothelin-1 Variants in Association with Hypertension in Japanese		182135		CDC	2006												
149259		depression	PSYCH	PSY	Diseases in Twins|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Christiansen, L.  et al. 2006	16806099				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Danish		CDC GDP info	3356	Hs.72630			Biol Psychiatry    2006	Candidate Gene Polymorphisms in the Serotonergic Pathway		182135		CDC	2006	These results suggest that variations in genes encoding the components of serotonin metabolism may influence the basic mood level and that different genetic factors may apply in men and women.											
149260		suicide	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Videtic, A.  et al. 2006	16856120				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2006	Association study of seven polymorphisms in four serotonin receptor genes on suicide victims		182135		CDC	2006												
149261		depression drug hypersensitivity	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Kato, M.  et al. 2006	16874005				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Japan	CDC GDP info	3356	Hs.72630			Neuropsychobiology    2006    53(4)    186-195	Effects of the Serotonin Type 2A, 3A and 3B Receptor and the Serotonin Transporter Genes on Paroxetine and Fluvoxamine Efficacy and Adverse Drug Reactions in Depressed Japanese Patients		182135		CDC	2006			fluvoxamine paroxetine									
149262		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	13	13q14-q21	HTR2A	46305513	46368995		Shadrina, M.  et al. 2006	16876316				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Russia	CDC GDP info	3356	Hs.72630			Neurosci Lett    2006	Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology		182135		CDC	2006												
149264		suicide	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Videtic, A.  et al. 2006	16964176				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Psychiatr Danub    2006    18 Suppl 1    157	Association study of genes involved in serotonergic signaling pathway and suicide completion		182135		CDC	2006												
149265		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Craig, D.  et al. 2006	16967466				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2006	Analysis of the 5HT-2A T102C receptor polymorphism and psychotic symptoms in Alzheimer's disease		182135		CDC	2006												
149267		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Heiser, P.  et al. 2006	17093889				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			J Neural Transm    2006	Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample		182135		CDC	2006												
149268	Y	delusions hallucinations psychoses	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Pritchard, A. L.  et al. 2006	17098333				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Neurobiol Aging    2006	Role of 5HT(2A) and 5HT(2C) polymorphisms in behavioural and psychological symptoms of Alzheimer's disease		182135		CDC	2006	This review and extension of previous data presents support for the role of 5HT(2A) and 5HT(2C) in the development of certain symptoms, although the effect size may be small.											
149270	Y	impulsive behavior	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Nomura, M.  et al. 2006	17185512				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Ann N Y Acad Sci    2006    1086    134-43	Psychological, neuroimaging, and biochemical studies on functional association between impulsive behavior and the 5-HT2A receptor gene polymorphism in humans		182135		CDC	2006												
149271		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	13	13q14-q21	HTR2A	46305513	46368995		Coutinho, A. M.  et al. 2007	17203304				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		182135		CDC	2007												
149272	Y	cognitive function	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Ucok, A.  et al. 2007	17221846				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2007	Association of a serotonin receptor 2A gene polymorphism with cognitive functions in patients with schizophrenia		182135		CDC	2007												
149273		dystonia, acute parkinsonism tardive dyskinesia	PHARMACOGENOMIC	PHARM	Basal Ganglia Diseases|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Guzey, C.  et al. 2007	17225991				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Eur J Clin Pharmacol    2007	Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia		182135		CDC	2007	Presence of the Taq1A A1 allele of the DRD2 and the 9 repeat allele of the DAT1 VNTR polymorphisms might be risk factors for EPS caused by antipsychotic drugs.		antipsychotic drug									
149275		autism	PSYCH	PSY	Autistic Disorder	13	13q14-q21	HTR2A	46305513	46368995		Cho, I. H.  et al. 2007	17280648				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Korean		CDC GDP info	3356	Hs.72630			Brain Res    2007	Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios		182135		CDC	2007												
149276		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Saiz, P. A.  et al. 2007	17291660				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Prog Neuropsychopharmacol Biol Psychiatry    2007	Association study of serotonin 2A receptor (5-HT2A) and serotonin transporter (5-HTT) gene polymorphisms with schizophrenia		182135		CDC	2007	Our findings support a possible synergistic effect of genetic factors influencing serotonergic neurotransmission on susceptibility to schizophrenia.											
149277	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Jokela, M.  et al. 2007	17339524				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2		Finland	CDC GDP info	3356	Hs.72630			Arch Gen Psychiatry    2007    64(3)    356-60	Serotonin Receptor 2A Gene and the Influence of Childhood Maternal Nurturance on Adulthood Depressive Symptoms		182135		CDC	2007	The HTR2A gene may be involved in the development of depression by influencing the ability of individuals to use environmental support.		maternal nurturance									
149279		psychosis	PSYCH	PSY	Bipolar Disorder|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		De Luca, V.  et al. 2007	17407792				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Psychiatry Res    2007	Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C polymorphism in psychosis		182135		CDC	2007												
149281	Y	panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	13	13q14-q21	HTR2A	46305513	46368995		Unschuld, P. G.  et al. 2007	17440930				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2007	Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder		182135		CDC	2007												
149282	Y	harm avoidance	PSYCH	PSY	Coronary Disease	13	13q14-q21	HTR2A	46305513	46368995		Jokela, M.  et al. 2007	17487576				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Finnish		CDC GDP info	3356	Hs.72630			Behav Genet    2007	The Serotonin Receptor 2A Gene Moderates the Influence of Parental Socioeconomic Status on Adulthood Harm Avoidance		182135		CDC	2007	the T102C polymorphism of the HTR2A gene may be involved in the development of temperament by moderating the influence of environmental conditions.		parental socioeconomic status									
149283	Y	obsessive compulsive disorder	PHARMACOGENOMIC	PHARM	Obsessive-Compulsive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Denys, D.  et al. 2007	17503984				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			J Clin Psychiatry    2007    68(5)    747-53	Prediction of response to paroxetine and venlafaxine by serotonin-related genes in obsessive-compulsive disorder in a randomized, double-blind trial		182135		CDC	2007	The results of this study suggest that response in venlafaxine-treated OCD patients is associated with$$$ the S/L genotype of the 5-HTTLPR polymorphism and in paroxetine-treated OCD patients with the G/G genotype of the 5-HT2A polymorphism.		paroxetine venlafaxine									
149284		hostility personality traits	PSYCH	PSY		13	13q14-q21	HTR2A	46305513	46368995		Keltikangas-Jarvinen, L.  et al. 2007	17504248				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Genes Brain Behav    2007	Serotonin receptor genes 5HT1A and 5HT2A modify the relation between childhood temperament and adulthood hostility		182135		CDC	2007			childhood hyperactivity									
149285		suicide	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Correa, H.  et al. 2007	17506229				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Dialogues Clin Neurosci    2007    9(1)    97-101	Association study of T102C 5-HT(2A) polymorphism in schizophrenic patients		182135		CDC	2007												
149287		schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Anttila, S.  et al. 2007	17521439				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			BMC Psychiatry    2007    7(1)    22	Association between 5-HT2A, TPH1 and GNB3 genotypes and response to typical neuroleptics		182135		CDC	2007	More findings on the consequences of functional polymorphisms for the role of serotonin in the development of brain and serotonergic neurotransmission are needed before more detailed hypotheses regarding susceptibility and outcome in schizophrenia can be formulated.		neuroleptic response									
149288		Alzheimer's disease depression psychoticism	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder|Psychotic Disorders	13	13q14-q21	HTR2A	46305513	46368995		Wilkosz, P. A.  et al. 2007	17525976				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Caucasian		CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2007	Prediction of psychosis onset in Alzheimer disease		182135		CDC	2007			depression									
149289	N	cognitive function	PSYCH	PSY	Stress	13	13q14-q21	HTR2A	46305513	46368995		Reynolds, C. A.  et al. 2007	17564514				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Twin Res Hum Genet    2007    10(2)    241-54	Genotype-environment interactions		182135		CDC	2007	suggested that nonshared environmental influences associated with depressive symptoms may moderate the G x E relationship observed for ESR1 and APOE and longitudinal semantic memory change whereby noncarriers of putative risk alleles may be relatively more sensitive to depressionevoking environmental contexts than carriers of the risk allele.		depression life events social support									
149291		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations|Genetic Predisposition to Disease	13	13q14-q21	HTR2A	46305513	46368995		Kiferle, L.  et al. 2007	17614196				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Neurosci Lett    2007	Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes		182135		CDC	2007												
149292		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Penas-Lledo, E. M.  et al. 2007	17617023				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Clin Chem Lab Med    2007    45(7)    835-8	Association between T102C and A-1438G polymorphisms in the serotonin receptor 2A (5-HT2A) gene and schizophrenia		182135		CDC	2007	Two groups of 114 SPs and 142 HVs were studied.		antipsychotic drug risperidone									
149293		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		312861		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149294		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	X	Xq24	HTR2C	113724806	114050880		Dmitrzak-Weglarz, M.  et al. 2005	16382194				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Pharmacol Rep    2005    57(6)    761-5	Association studies of 5-HT2A and 5-HT2C serotonin receptor gene polymorphisms with prophylactic lithium response in bipolar patients		312861		CDC	2005			lithium									
149296	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Lane, H. Y.  et al. 2006	16633140				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		312861		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
149297		personality traits	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Tochigi, M.  et al. 2006	16682118				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Neurosci Lett    2006	No association of 5-HT(2C), 5-HT(6), and tryptophan hydroxylase-1 gene polymorphisms with personality traits in the Japanese population		312861		CDC	2006												
149298		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xq24	HTR2C	113724806	114050880		Li, J.  et al. 2006	16741915				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Am J Med Genet B Neuropsychiatr Genet    2006	Contribution of 5-HT2A receptor gene -1438A>G polymorphism to outcome of attention-deficit/hyperactivity disorder in adolescents		312861		CDC	2006												
149301		suicide	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Rujescu, D.  et al. 2006	16964084				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Psychiatr Danub    2006    18(Suppl-1)    121	HTR2C, HTR1A, NOS-I AND NOS-III GENE VARIANTS IN GERMAN AND ITALIAN SUICIDE ATTEMPTERS AND COMPLETERS		312861		CDC	2006												
149302	P		NORMALVARIATION	NV	Mental Disorders	X	Xq24	HTR2C	113724806	114050880		Marignac, V. L.  et al. 2006	17039480				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	European;Indian;Native American		CDC GDP info	3358	Hs.149037			Am J Hum Biol    2006    18(6)    822-828	Prevalence of dopamine and 5HT2C receptor polymorphisms in Amerindians and in an urban population from Argentina		312861		CDC	2006												
149303	N	delusions hallucinations psychoses	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Pritchard, A. L.  et al. 2006	17098333				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Neurobiol Aging    2006	Role of 5HT(2A) and 5HT(2C) polymorphisms in behavioural and psychological symptoms of Alzheimer's disease		312861		CDC	2006	This review and extension of previous data presents support for the role of 5HT(2A) and 5HT(2C) in the development of certain symptoms, although the effect size may be small.											
149305	N	aggressive behavior anger behavior suicide	PSYCH	PSY		X	Xq24	HTR2C	113724806	114050880		Serretti, A.  et al. 2006	17192951				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Caucasian;German;Italian		CDC GDP info	3358	Hs.149037			Am J Med Genet B Neuropsychiatr Genet    2006	HTR2C and HTR1A gene variants in German and Italian suicide attempters and completers		312861		CDC	2006	our study does not support the notion that HTR2C and HTR1A gene variants are major contributors to suicide-, anger-, or aggression-related behaviors in our sample.											
149306		weight gain, antipsychotic-induced	PHARMACOGENOMIC	PHARM	Body Weight|Weight Gain|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Ryu, S.  et al. 2007	17275977				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Korean		CDC GDP info	3358	Hs.149037			Prog Neuropsychopharmacol Biol Psychiatry    2007	-759 C/T polymorphism of 5-HT2C receptor gene and early phase weight gain associated with antipsychotic drug treatment		312861		CDC	2007												
149307	Y	weight gain, antipsychotic-induced	PHARMACOGENOMIC	PHARM	Weight Gain	X	Xq24	HTR2C	113724806	114050880		De Luca, V.  et al. 2007	17291373				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Caucasian		CDC GDP info	3358	Hs.149037			Int J Neuropsychopharmacol    2007        1-8	Association of the HTR2C gene and antipsychotic induced weight gain		312861		CDC	2007												
149308	N	depressive disorder, major	PSYCH	PSY	Mood Disorders|Depressive Disorder, Major|Schizophrenia	11	11q23.1	HTR3A	113351119	113366244		Yamada, K.  et al. 2006	16487942				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1	Japanese;Caucasian;European	Japan	CDC GDP info	3359	Hs.413899			Biol Psychiatry    2006	Distinguishable Haplotype Blocks in the HTR3A and HTR3B Region in the Japanese Reveal Evidence of Association of HTR3B with Female Major Depression		182139		CDC	2006	Our results suggest an important role for HTR3B in major depression in women and also raise the possibility that previously proposed disease-associated SNPs in the HTR3A/B region in Caucasians are in linkage disequilibrium with haplotype block 2 of HTR3B in the Japanese.											
149310		depression drug hypersensitivity	PSYCH	PSY		11	11q23.1	HTR3A	113351119	113366244		Kato, M.  et al. 2006	16874005				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1		Japan	CDC GDP info	3359	Hs.413899			Neuropsychobiology    2006    53(4)    186-195	Effects of the Serotonin Type 2A, 3A and 3B Receptor and the Serotonin Transporter Genes on Paroxetine and Fluvoxamine Efficacy and Adverse Drug Reactions in Depressed Japanese Patients		182139		CDC	2006			fluvoxamine paroxetine									
149311		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	11	11q23.1	HTR3A	113351119	113366244		Mossner, R.  et al. 2007	17259209				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDP info	3359	Hs.413899			J Psychopharmacol    2007	Transmission disequilibrium analysis of the functional 5-HT3A receptor variant C178T in early-onset obsessive-compulsive disorder		182139		CDC	2007												
149313		nausea	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Nausea|Mental Disorders	11	11q23.1	HTR3B	113280798	113322493			16534507				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3			CDC GDP info	9177	Hs.241377			Pharmacogenomics J    2006	The effect of 5-hydroxytryptamine 3A and 3B receptor genes on nausea induced by paroxetine		604654		CDC	2006			paroxetine									
149314		depression drug hypersensitivity	PSYCH	PSY		11	11q23.1	HTR3B	113280798	113322493		Kato, M.  et al. 2006	16874005				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3		Japan	CDC GDP info	9177	Hs.241377			Neuropsychobiology    2006    53(4)    186-195	Effects of the Serotonin Type 2A, 3A and 3B Receptor and the Serotonin Transporter Genes on Paroxetine and Fluvoxamine Efficacy and Adverse Drug Reactions in Depressed Japanese Patients		604654		CDC	2006			fluvoxamine paroxetine									
149315	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5q31-q33	HTR4	147810787	148025489		Li, J.  et al. 2006	16563621				5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1			CDC GDP info	3360	Hs.483773			Neurosci Lett    2006	Association of attention-deficit/hyperactivity disorder with serotonin 4 receptor gene polymorphisms in Han Chinese subjects		602164		CDC	2006												
149316		attention deficit hyperactivity disorder behavior disorder	PSYCH	PSY		5	5q31-q33	HTR4	147810787	148025489		Li, J.  et al. 2007	17572776				5-hydroxytryptamine (serotonin) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040169.1			CDC GDP info	3360	Hs.483773			Beijing Da Xue Xue Bao    2007    39(3)    237-40	Association between serotonin 4 gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid disruptive behavioral disorder.		602164		CDC	2007	Whether ADHD comorbid DBD or not comorbid DBD makes difference at the level of HTR4 gene polymrohisms.											
149318		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q36.1	HTR5A	154493478	154508392		Coutinho, A. M.  et al. 2007	17203304				5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2			CDC GDP info	3361	Hs.65791			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		601305		CDC	2007												
149319		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDP info	3362	Hs.22180			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		601109		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149320		Alzheimer's disease	NEUROLOGICAL	NEUR		1	1p36-p35	HTR6	19864366	19878642		Thome, J.  et al. 2001	11692286				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDP info	3362	Hs.22180			J Neural Transm    2001    108(10)    1175-1180	Association analysis of HTR6 and HTR2A polymorphisms in sporadic Alzheimer's disease		601109		CDC	2001	These polymorphisms probably do not represent major genetic risk factors of AD. However, further studies including other genetic variants of the serotonergic neurotransmitter system are needed in order to elucidate their role in AD. 											
149321	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	1	1p36-p35	HTR6	19864366	19878642		Lane, H. Y.  et al. 2006	16633140				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDP info	3362	Hs.22180			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		601109		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
149323	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	1	1p36-p35	HTR6	19864366	19878642		Li, J.  et al. 2006	16701945				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDP info	3362	Hs.22180			Neurosci Lett    2006	No association of attention-deficit/hyperactivity disorder with genes of the serotonergic pathway in Han Chinese subjects		601109		CDC	2006												
149324		smoking behavior	CHEMDEPENDENCY	CHEM		1	1p36-p35	HTR6	19864366	19878642		Lerer, E.  et al. 2006	16770336				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1	Israeli	Israel	CDC GDP info	3362	Hs.22180			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		601109		CDC	2006												
149325		Autism	PSYCH	PSY	Autistic Disorder	10	10q21-q24	HTR7	92490555	92607651		Cross, S.  et al. 2007	17406648				5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000872.3			CDC GDP info	3363	Hs.73739	5-hydroxytryptamine		Neuropsychopharmacology    2007	Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism		182137		CDC	2007												
149326		macular degeneration	VISION	VIS	Macular Degeneration|Retinal Neovascularization|Genetic Predisposition to Disease	10	10q26.3	HTRA1	124211046	124264413		Dewan, A.  et al. 2006	17053108			promoter	HtrA serine peptidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002775.3			CDC GDP info	5654	Hs.501280			Science    2006	HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration		602194		CDC	2006												
149327		macular degeneration	VISION	VIS	Macular Degeneration|Retinal Drusen|Genetic Predisposition to Disease	10	10q26.3	HTRA1	124211046	124264413		Yang, Z.  et al. 2006	17053109				HtrA serine peptidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002775.3	Caucasian		CDC GDP info	5654	Hs.501280			Science    2006	A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration		602194		CDC	2006												
149328	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q26.3	HTRA1	124211046	124264413		Mori, K.  et al. 2007	17568988				HtrA serine peptidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002775.3			CDC GDP info	5654	Hs.501280			J Hum Genet    2007	Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population		602194		CDC	2007	the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population.											
149329	N	diabetes, type 2	METABOLIC	MET	Infant, Newborn, Diseases|Diabetes Mellitus|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6q24	HYMAI				Gloyn, A. L.  et al. 2006	16873690				hydatidiform mole associated and imprinted				CDC GDP info	57061	Hs.657760			Diabetes    2006    55(8)    2272-6	Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes		606546		CDC	2006	common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes.											
149331	Y	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				Latiano, A.  et al. 2006	16454837				inflammatory bowel disease 5				CDC GDP info	50941				Am J Gastroenterol    2006    101(2)    318-25	Contribution of IBD5 Locus to Clinical Features of IBD Patients		606348		CDC	2006	Our study shows that presence of the IBD5 risk alleles, particularly in the homozygous state, is associated with IBD and especially with CD, without a significant epistasis with CARD15.											
149332		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	5	5q31-q33	IBD5					16519819				inflammatory bowel disease 5				CDC GDP info	50941				BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		606348		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
149333	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				McGovern, D. P.  et al. 2006	17030188				inflammatory bowel disease 5				CDC GDP info	50941				Gastroenterology    2006    131(4)    1190-6	TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease		606348		CDC	2006	We have shown an association between a likely functional polymorphism in TUCAN and CD.		smoking (tobacco)									
149334	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				Brescianini, S.  et al. 2007	17172589				inflammatory bowel disease 5				CDC GDP info	50941				Gut    2007    56(1)    149-50	IBD5 is associated with an extensive complicated Crohn's disease feature		606348		CDC	2007			smoking (tobacco)									
149335		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				Silverberg, M. S.  et al. 2007	17213842				inflammatory bowel disease 5		Ashkenazi;Jewish		CDC GDP info	50941				Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		606348		CDC	2007												
149336	N	Crohn's disease ulcerative colitis,Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Ileitis|Crohn Disease|Genetic Predisposition to Disease	5	5q31-q33	IBD5				Prescott, N. J.  et al. 2007	17484864				inflammatory bowel disease 5				CDC GDP info	50941				Gastroenterology    2007    132(5)    1665-1671	A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5		606348		CDC	2007	The association of ATG16L1 with Crohn\s disease and possibly with ulcerative colitis supports a role for autophagy in the pathogenesis of inflammatory bowel disease.											
149337			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Lee, J. K.  et al. 2003	12768436				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Japanese;Caucasian;Korean		CDC GDP info	3383	Hs.643447			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		147840		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
149339	Y	myocardial infarct	CARDIOVASCULAR	CARD		19	19p13.3-p13.2	ICAM1	10242778	10258291		Wang, M.  et al. 2005	16471223				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    702-6	Study on the intercellular molecule-1 polymorphisms in an Chinese population with myocardial infarction		147840		CDC	2005	There was no + 12959G/A polymorphism found in Chinese people. The coding single nucleotide polymorphism + 13848 A/G in the exon 6 of ICAM-1 gene was associated to MI and the allele A might serve as a risk factor for MI in Chinese.											
149340	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Wohlfahrt, J. C.  et al. 2006	16512757				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		147840		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
149341	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Celiac Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Tello-Ruiz, M. K.  et al. 2006	16570073				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Eur J Hum Genet    2006	Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19		147840		CDC	2006	we analyzed 465 SNPs, and 260 haplotypes distributed across 56 candidate genes.											
149343	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		19	19p13.3-p13.2	ICAM1	10242778	10258291		Zhang, S.  et al. 2006	16604499				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    205-7	The correlation between ICAM-1 gene K469E polymorphism and coronary heart disease.		147840		CDC	2006	ICAM1 gene K469E polymorphism is associated with CHD risk of Han Chinese population, the K allele may serve as a genetic risk factor of coronary heart disease.											
149344		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19p13.3-p13.2	ICAM1	10242778	10258291		Chen, H.  et al. 2006	16733712				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	African American;European;German		CDC GDP info	3383	Hs.643447			Hum Genet    2006	ICAM gene cluster SNPs and prostate cancer risk in African Americans		147840		CDC	2006			family history									
149345	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Ozen, S. C.  et al. 2006	16741608				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Turkish	Turkey	CDC GDP info	3383	Hs.643447			J Gastroenterol    2006    41(4)    304-310	NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease		147840		CDC	2006	These findings suggest that the polymorphisms observed in the NOD2/CARD15, NOD1/CARD4, and ICAM-1 genes are not genetic susceptibility factors for Crohn\s disease or ulcerative colitis in Turkey.											
149346	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Bowlus, C. L.  et al. 2006	16750586				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Norwegian;Norwegian		CDC GDP info	3383	Hs.643447			J Hepatol    2006	Analysis of MAdCAM-1 and ICAM-1 polymorphisms in 365 Scandinavian patients with primary sclerosing cholangitis		147840		CDC	2006	Polymorphisms in MAdCAM-1 are not likely to significantly affect PSC susceptibility. In addition, the E/E genotype of the K469E in ICAM-1 does not influence PSC susceptibility in Scandinavia.											
149347	Y	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Liu, L.  et al. 2006	16759306				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Diabet Med    2006    23(6)    643-8	Association of intercellular adhesion molecule 1 polymorphisms with retinopathy in Chinese patients with Type 2 diabetes		147840		CDC	2006	The ICAM-1 gene K469E polymorphism is associated with diabetic retinopathy in Chinese patients with Type 2 diabetes. Patients with the K469K genotype were more likely to have diabetic retinopathy than patients with the K469E or E469E genotype.											
149348		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Reperfusion Injury|Myocardial Infarction|Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome|Postoperative Complications	19	19p13.3-p13.2	ICAM1	10242778	10258291		Podgoreanu, M. V.  et al. 2006	16820586				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Circulation    2006    114(1 Suppl)    I275-81	Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery		147840		CDC	2006	Functional genetic variants in cytokine and leukocyte-endothelial interaction pathways are independently associated with severity of myonecrosis after cardiac surgery. This may aid in preoperative identification of high-risk cardiac surgical patients and development of novel cardioprotective strategies.											
149349		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	19	19p13.3-p13.2	ICAM1	10242778	10258291		Krueger, M.  et al. 2006	16893383				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Int J Immunogenet    2006    33(4)    233-235	Genetic polymorphisms of adhesion molecules in children with severe RSV-associated diseases		147840		CDC	2006												
149350	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Abel, M.  et al. 2006	16916657				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Caucasian;French		CDC GDP info	3383	Hs.643447			Hum Immunol    2006    67(8)    612-7	Adulthood-onset celiac disease is associated with intercellular adhesion molecule-1 (icam-1) gene polymorphism		147840		CDC	2006												
149351		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Kaur, G.  et al. 2006	16916660				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Indian		CDC GDP info	3383	Hs.643447			Hum Immunol    2006    67(8)    634-8	Polymorphism in L-selectin, e-selectin and icam-1 genes in asian Indian pediatric patients with celiac disease		147840		CDC	2006												
149352		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Inflammation	19	19p13.3-p13.2	ICAM1	10242778	10258291		Theodoropoulos, G.  et al. 2006	16937502				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Greek		CDC GDP info	3383	Hs.643447			World J Gastroenterol    2006    12(31)    5037-43	Relation between common polymorphisms in genes related to inflammatory response and colorectal cancer		147840		CDC	2006	The association between common SNPs in immunologic response-related genes and CRC is reported in the present study. Apart from shedding light on the mechanisms of malignancy initiation and progression, SNPs may improve appropriate screening for sub-populations at risk.											
149353	Y	diabetes, type 1 diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Ma, J.  et al. 2006	16978373				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Swedish;Caucasian		CDC GDP info	3383	Hs.643447			Diabet Med    2006    23(10)    1093-9	Genetic influences of the intercellular adhesion molecule 1 (ICAM-1) gene polymorphisms in development of Type 1 diabetes and diabetic nephropathy		147840		CDC	2006	The present study provided evidence that SNPs rs281432(C/G) and rs5498 E469K(A/G) in the ICAM-1 gene confer susceptibility to the development of T1D and might also be associated with diabetic nephropathy in Swedish Caucasians.											
149354		gastroschisis	DEVELOPMENTAL	DEV	Gastroschisis|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Torfs, C. P.  et al. 2006	17051589				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Birth Defects Res A Clin Mol Teratol    2006    76(10)    723-730	Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis		147840		CDC	2006	These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.		smoking (tobacco), maternal									
149355		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Inflammation	19	19p13.3-p13.2	ICAM1	10242778	10258291		Lee, K. M.  et al. 2007	17361014				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Carcinogenesis    2007	Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, China		147840		CDC	2007	genetic variation in immunoregulatory genes may play an important role in the development of lung cancer in this population.		smoky coal									
149357		graves' ophthalmopathy	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Bednarczuk, T.  et al. 2007	17521325				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Clin Endocrinol (Oxf)    2007	Susceptibility genes in Graves' ophthalmopathy		147840		CDC	2007												
149358		esophageal cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Esophageal Neoplasms	19	19p13.3-p13.2	ICAM1	10242778	10258291		Okuno, T.  et al. 2007	17551301				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Am J Clin Oncol    2007    30(3)    252-7	Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese		147840		CDC	2007	The prognostic index may allow predictions of the clinical outcome of a 5-FU/CDDP-based CRT in stage II/III ESCC patients.		5-flurouracil cisplatin physical activity radiation									
149359	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Hong, J.  et al. 2007	17593226				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1	Caucasian;German;New Zealand		CDC GDP info	3383	Hs.643447			J Gastroenterol Hepatol    2007	Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients		147840		CDC	2007	The NFKBIA 2758G/A and ICAM-1 K469E polymorphisms are not significant risk factors for CD in New Zealand; however, there is evidence that the latter polymorphism influences the age of diagnosis.											
149361		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19p13.2	ICAM5	10261654	10268453		Chen, H.  et al. 2006	16733712				Intercellular adhesion molecule 5, telencephalin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC026338	African American;European;German		CDC GDP info	7087	Hs.465862			Hum Genet    2006	ICAM gene cluster SNPs and prostate cancer risk in African Americans		601852		CDC	2006			family history									
149362	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19p13.2	ICAM5	10261654	10268453		Cox, A. et al  et al. 2007	17293864				Intercellular adhesion molecule 5, telencephalin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC026338			CDC GDP info	7087	Hs.465862			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		601852		CDC	2007												
149363	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q33	ICOS	204509747	204534543		Wohlfahrt, J. C.  et al. 2006	16512757				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			CDC GDP info	29851	Hs.56247			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		604558		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
149364	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	2	2q33	ICOS	204509747	204534543		Wiencke, K.  et al. 2006	16638702				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			CDC GDP info	29851	Hs.56247			Scand J Gastroenterol    2006    41(5)    586-91	No major effect of the CD28/CTLA4/ICOS gene region on susceptibility to primary sclerosing cholangitis		604558		CDC	2006	There are no major effects of the CD28/CTLA4/ICOS gene region on susceptibility to PSC, but minor contributions (OR <1.8) cannot be excluded.											
149365		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	ICOS	204509747	204534543		Castelli, L.  et al. 2007	17481737				Inducible T-cell co-stimulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012092.2			CDC GDP info	29851	Hs.56247			J Neuroimmunol    2007	ICOS gene haplotypes correlate with IL10 secretion and multiple sclerosis evolution		604558		CDC	2007												
149366		Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Mueller, J. C.  et al. 2006	16675064				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Neurobiol Aging    2006	Weak independent association signals between IDE polymorphisms, Alzheimer's disease and cognitive measures		146680		CDC	2006												
149367	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Bjork, B. F.  et al. 2006	16876916				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Neurobiol Aging    2006	Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE		146680		CDC	2006												
149368	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23-q25	IDE	94204018	94323813		Ozturk, A.  et al. 2006	16914266				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Neurosci Lett    2006    406(3)    265-9	Lack of association of 5 SNPs in the vicinity of the insulin-degrading enzyme (IDE) gene with late-onset Alzheimer's disease		146680		CDC	2006												
149369		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Bertram, L.  et al. 2007	17192785				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		146680		CDC	2007	odds ratios (ranging from 1.											
149370		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Sladek, R.  et al. 2007	17293876				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1	French		CDC GDP info	3416	Hs.500546			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		146680		CDC	2007												
149371	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Zeggini, E.  et al. 2007	17463249				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		146680		CDC	2007												
149373		cognitive function executive function memory disturbance	PSYCH	PSY	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	10	10q23-q25	IDE	94204018	94323813		McQueen, M. B.  et al. 2007	17579348				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1			CDC GDP info	3416	Hs.500546			Am J Med Genet B Neuropsychiatr Genet    2007	Exploring candidate gene associations with neuropsychological performance		146680		CDC	2007												
149374		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	1	1p31.1	IFI44	78888103	78902345		Hwang, Y.  et al. 2006	16886895				Interferon-induced protein 44	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537508			CDC GDP info	10561	Hs.82316			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		610468		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
149375		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q24	IFIH1	162831834	162883285		Smyth, D. J.  et al. 2006	16699517				Interferon induced with helicase C domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022168			CDC GDP info	64135	Hs.163173			Nat Genet    2006	A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region		606951		CDC	2006												
149377	Y	Addison's disease Graves' disease	IMMUNE	IMM	Graves Disease	2	2q24	IFIH1	162831834	162883285		Sutherland, A.  et al. 2007	17535987	IFIH1  Ala946Thr			Interferon induced with helicase C domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022168			CDC GDP info	64135	Hs.163173			J Clin Endocrinol Metab    2007	GENOMIC POLYMORPHISM AT THE INTERFERON-INDUCED HELICASE (IFIH1) LOCUS CONTRIBUTES TO GRAVES' DISEASE SUSCEPTIBILITY		606951		CDC	2007	We confirm a significant contribution of the Ala946Thr IFIH1 polymorphism to organ-specific autoimmune diseases, extending the range of conditions associated with this variant to include Graves\ disease. This polymorphism may also contribute to several other autoimmune disorders.											
149378	Y	hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	9	9p22	IFNA2	21374253	21375396		Song, L. H.  et al. 2006	16920161			promoter	Interferon, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000605	Vietnamese		CDC GDP info	3440	Hs.211575			Mutat Res    2006	A promoter polymorphism in the interferon alpha-2 gene is associated with the clinical presentation of hepatitis B		147562		CDC	2006												
149379		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	21	21q22.1	IFNAR1	33619083	33653998		Cunningham, S.  et al. 2005	16338279				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDP info	3454	Hs.529400			Clin Pharmacol Ther    2005    78(6)    635-46	Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis		107450		CDC	2005	Our work confirms and extends previous indications for a polygenic mechanism involved in bringing about responsiveness to recombinant IFN-beta. The identification of 2 genes active in the antigen processing and presentation cascade; that is, LMP7, coding for the proteasome subunit beta, and CTSS, coding for cathepsin S; as potential response modifiers may identify this pathway as being of particular relevance to phenotypic expression of response heterogeneity.		interferon									
149380	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	21	21q22.1	IFNAR1	33619083	33653998		Diop, G.  et al. 2006	17027223				Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2			CDC GDP info	3454	Hs.529400			Biomed Pharmacother    2006	Exhaustive genotyping of the interferon alpha receptor 1 (IFNAR1) gene and association of an IFNAR1 protein variant with AIDS progression or susceptibility to HIV-1 infection in a French AIDS cohort		107450		CDC	2006												
149382		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	9	9p21	IFNB1	21067103	21067943		Cunningham, S.  et al. 2005	16338279				Interferon, beta 1, fibroblast	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002176.2			CDC GDP info	3456	Hs.93177			Clin Pharmacol Ther    2005    78(6)    635-46	Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis		147640		CDC	2005	Our work confirms and extends previous indications for a polygenic mechanism involved in bringing about responsiveness to recombinant IFN-beta. The identification of 2 genes active in the antigen processing and presentation cascade; that is, LMP7, coding for the proteasome subunit beta, and CTSS, coding for cathepsin S; as potential response modifiers may identify this pathway as being of particular relevance to phenotypic expression of response heterogeneity.		interferon									
149383		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9p21	IFNB1	21067103	21067943		Morris, G. A.  et al. 2006	16504056				Interferon, beta 1, fibroblast	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002176.2			CDC GDP info	3456	Hs.93177			BMC Genet    2006    7(1)    12	Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes		147640		CDC	2006	We have developed informative sets of SNPs for the interferon and interferon related genes.											
149384		breast cancer	CANCER	CAN		12	12q14	IFNG	66834816	66839788		Saha, A.  et al. 2005	15756547			Intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Immunogenetics    2005	Functional IFNG polymorphism in intron 1 in association with an increased risk to promote sporadic breast cancer.		147570		CDC	2005												
149386		Epstein-Barr virus reactivation	INFECTION	INF	Epstein-Barr Virus Infections|Hematologic Neoplasms|Recurrence|Postoperative Complications	12	12q14	IFNG	66834816	66839788			16409297				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Br J Haematol    2006    132(3)    326-32	The presence of IFNG 3/3 genotype in the recipient associates with increased risk for Epstein-Barr virus reactivation after allogeneic haematopoietic stem cell transplantation		147570		CDC	2006												
149387		c-reactive protein cytokine mRNA	IMMUNE	IMM	Kidney Failure, Chronic	12	12q14	IFNG	66834816	66839788			16410273	IFN-gamma +874 A/A	preventative		Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856	preventative		Nephrol Dial Transplant    2006	Association of interferon-{gamma} +874A polymorphism with reduced long-term inflammatory response in haemodialysis patients		147570		CDC	2006	The \low-producer\ IFN-gamma +874 A/A genotype was associated with a preventive effect on long-term CRP elevation in haemodialysis patients possibly mediated by decreased gene expression of IFN-gamma and IL-6.											
149388	N	hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic	12	12q14	IFNG	66834816	66839788			16425360				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			World J Gastroenterol    2005    11(42)    6656-61	Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3		147570		CDC	2005	There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphis		interferon ribavirin									
149390		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Daher, S.  et al. 2006	16433832				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Am J Reprod Immunol    2006    55(2)    130-5	Cytokine genotyping in preeclampsia		147570		CDC	2006	Our study suggests that PE is associated with IL-10-(1082) polymorphism but not with TNF-(308) polymorphism. On the basis of meta-analysis, we confirm the need for more studies for the evaluation of cytokine genotype in disease.											
149391	Y	lung function	OTHER	OTH		12	12q14	IFNG	66834816	66839788		He, J. Q.  et al. 2006	16474934				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	non-Hispanic		CDC GDP info	3458	Hs.856			Hum Genet    2006        1-11	Interferon gamma polymorphisms and their interaction with smoking are associated with lung function		147570		CDC	2006			smoking (tobacco)									
149392	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Etokebe, G. E.  et al. 2006	16476013				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Caucasian		CDC GDP info	3458	Hs.856			Scand J Immunol    2006    63(2)    136-41	Interferon-gamma Gene (T874A and G2109A) Polymorphisms Are Associated With Microscopy-positive Tuberculosis		147570		CDC	2006												
149393	Y	Langerhans cell histiocytosis	HEMATOLOGICAL	HEM	Histiocytosis, Langerhans-Cell	12	12q14	IFNG	66834816	66839788		Filippi, P. D.  et al. 2006	16487180				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Italian		CDC GDP info	3458	Hs.856			Br J Haematol    2006    132(6)    784-7	Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis		147570		CDC	2006												
149394		nephropathy, IgA	RENAL	REN		12	12q14	IFNG	66834816	66839788		Schena, F. P.  et al. 2006	16493441				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Eur J Hum Genet    2006	Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy		147570		CDC	2006												
149395		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Morris, G. A.  et al. 2006	16504056				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			BMC Genet    2006    7(1)    12	Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes		147570		CDC	2006	We have developed informative sets of SNPs for the interferon and interferon related genes.											
149396	N	anemia C-reactive protein	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic|Anemia	12	12q14	IFNG	66834816	66839788			16538877				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Perit Dial Int    2006    26(1)    64-8	The effect of proinflammatory cytokine gene and angiotensin-converting enzyme polymorphisms on erythropoietin requirements in patients on continuous ambulatory peritoneal dialysis		147570		CDC	2006	ACE insertion/deletion polymorphism may determine rHuEPO responsiveness in CAPD patients and should be considered in relative rHuEPO resistance.		erythropoietin									
149398	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Sumnik, Z.  et al. 2006	16567828				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	European		CDC GDP info	3458	Hs.856			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		147570		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
149399	Y	SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Chong, W. P.  et al. 2006	16672072				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			BMC Infect Dis    2006    6(1)    82	The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome		147570		CDC	2006	IFN-gamma +874A allele was shown to be a risk factor in SARS susceptibility.											
149400	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Chang, Y. T.  et al. 2006	16681592				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		147570		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
149401	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	12	12q14	IFNG	66834816	66839788		Cooke, G. S.  et al. 2006	16690980				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Am J Respir Crit Care Med    2006	Polymorphism within the Interferon Gamma/Receptor Complex is Associated with Pulmonary Tuberculosis		147570		CDC	2006	These results provide evidence of a significant role for genetic variation at the IFNG locus and provide detailed understanding of the genetic mechanisms underlying this association.											
149402	N	proliferative vitreoretinopathy rhegmatogenous retinal detachment	VISION	VIS	Retinal Detachment|Vitreoretinopathy, Proliferative|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Sanabria Ruiz-Colmenares, M. R.  et al. 2006	16704689				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Acta Ophthalmol Scand    2006    84(3)    309-13	Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy		147570		CDC	2006	An association between the TGF-beta1 genetic profile and the development of PVR was detected in this study. Further studies are necessary to confirm this finding and to establish its clinical relevance.											
149403	Y	hepatitis B, intrauterine	INFECTION	INF	Pregnancy Complications, Infectious|Hepatitis B|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Yu, H.  et al. 2006	16718821				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			World J Gastroenterol    2006    12(18)    2928-2931	Relationship between IFN-gamma gene polymorphism and susceptibility to intrauterine HBV infection		147570		CDC	2006	There is a relationship between IFN-gamma+874A/T SNP and intrauterine HBV infection as well as between IFN-gamma CA microsatellite polymorphism and intrauterine HBV infection. IFN-gamma gene polymorphism might be important in determining individual\s susceptibility to intrauterine HBV infection.											
149404	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Courtin, D.  et al. 2006	16720107				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		147570		CDC	2006												
149406			NORMALVARIATION	NV		12	12q14	IFNG	66834816	66839788		Bagheri, M.  et al. 2006	16734562				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3458	Hs.856			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147570		CDC	2006												
149407	Y	birth weight perinatal complications	REPRODUCTION	REP	Enterocolitis, Necrotizing|Bronchopulmonary Dysplasia|Pneumonia|Respiratory Distress Syndrome, Newborn|Ductus Arteriosus, Patent|Hypotension	12	12q14	IFNG	66834816	66839788		Bokodi, G.  et al. 2006	16754651	(+874)A		promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Arch Dis Child Fetal Neonatal Ed    2006	The association of Interferon-Gamma t+874a and Interleukin-12 p40 promoter ctctaa/gc polymorphism with the need for respiratory support and perinatal complications in low birth weight neonates		147570		CDC	2006	Carrier state of the IFNgamma(+874)A allele presents an increased risk for premature birth and lung damage, as well as other perinatal complications. The risks of pneumonia and NEC are higher in heterozygotic carriers of the IL12 CTCTAA/GC polymorphism. Further studies are needed to determine whether these associations are the result of altered cytokine-producing capacity in infants carrying the tested alleles.											
149408		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Carlo-Stella, N.  et al. 2006	16762155				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Italian		CDC GDP info	3458	Hs.856			Clin Exp Rheumatol    2006    24(2)    179-82	A first study of cytokine genomic polymorphisms in CFS		147570		CDC	2006	We hypothesize that CFS patients can have a genetic predisposition to an immunomodulatory response of an inflammatory nature probably secondary to one or more environmental insults of unknown nature.											
149409			NORMALVARIATION	NV		12	12q14	IFNG	66834816	66839788		Bagheri, M.  et al. 2006	16764598				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Iranian;Asian	Iran	CDC GDP info	3458	Hs.856			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147570		CDC	2006												
149411		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	12	12q14	IFNG	66834816	66839788		Lee, T. C.  et al. 2006	16824159				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		147570		CDC	2006			Epstein-Barr virus									
149412		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Kamali-Sarvestani, E.  et al. 2006	16863661				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Reprod Immunol    2006	Association study of IL-10 and IFN-gamma gene polymorphisms in Iranian women with preeclampsia		147570		CDC	2006												
149413	N	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Dashash, M.  et al. 2006	16916659				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Hum Immunol    2006    67(8)    627-33	Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms		147570		CDC	2006												
149414		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Licastro, F.  et al. 2006	16930778				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		147570		CDC	2006												
149415		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	12	12q14	IFNG	66834816	66839788		Basturk, B.  et al. 2006	16938461				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147570		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149416	Y	cirrhosis hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Dai, C. Y.  et al. 2006	16938650				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Transl Res    2006    148(3)    128-133	Polymorphism of interferon-gamma gene at position +874 and clinical characteristics of chronic hepatitis C		147570		CDC	2006	the authors\ findings indicate that inheritance of +847 IFN-gamma polymorphism is associated with the cirrhosis in patients with CHC.											
149418	Y	leishmaniasis, cutaneous	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Kamali-Sarvestani, E.  et al. 2006	16950634				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Iranian		CDC GDP info	3458	Hs.856			Cytokine    2006	Cytokine gene polymorphisms and susceptibility to cutaneous leishmaniasis in Iranian patients		147570		CDC	2006	our results suggest that functional genetic variants in the IL-4 promoter could influence the risk of developing CL while the polymorphism in the first intron of the IFN-gamma gene might influence the progression of disease towards CCL.											
149419	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Wang, T. N.  et al. 2006	16961714				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Exp Allergy    2006    36(9)    1147-52	Association of interferon-gamma and interferon regulatory factor 1 polymorphisms with asthma in a family-based association study in Taiwan		147570		CDC	2006	These findings provide strong evidence of which IFN-gamma CA repeat and IRF-1 GT repeat polymorphisms influence the risk of asthma for children in Taiwan.											
149420	N	tuberculosis	INFECTION	INF	Tuberculosis	12	12q14	IFNG	66834816	66839788		Oral, H. B.  et al. 2006	16962335				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Turkish		CDC GDP info	3458	Hs.856			Cytokine    2006	Interleukin-10 (IL-10) gene polymorphism as a potential host susceptibility factor in tuberculosis		147570		CDC	2006												
149421	Y	Graves' disease Hashimoto's thyroiditis	IMMUNE	IMM	Graves Disease|Hashimoto Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Rekha, P. L.  et al. 2006	16970687				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Scand J Immunol    2006    64(4)    438-43	A Differential Association of Interferon-gamma High-Producing Allele T and Low-Producing Allele A (+874 A/T) with Hashimoto's Thyroiditis and Graves' Disease		147570		CDC	2006												
149423		bronchiectasis	OTHER	OTH	Colitis, Ulcerative|Bronchiectasis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Boyton, R. J.  et al. 2006	17026468				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Tissue Antigens    2006    68(4)    325-330	IFNgamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis		147570		CDC	2006												
149424	Y	hepatitis B	INFECTION	INF	Hepatitis B	12	12q14	IFNG	66834816	66839788		Liu, M.  et al. 2006	17033822				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Immunogenetics    2006	Association of interferon-gamma gene haplotype in the Chinese population with hepatitis B virus infection		147570		CDC	2006												
149425	N	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Snyder, L. D.  et al. 2006	17097497				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Heart Lung Transplant    2006    25(11)    1330-5	Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant		147570		CDC	2006	Polymorphisms of TNF-alpha, IFN-gamma, TGF-beta1, IL-10 and IL-6 do not appear to influence the onset of BOS or graft survival in recipients.											
149427	N	kidney transplant	RENAL	REN		12	12q14	IFNG	66834816	66839788		Gendzekhadze, K.  et al. 2006	17138053				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		147570		CDC	2006												
149428	N	cytomegalovirus	INFECTION	INF	Cytomegalovirus Infections	12	12q14	IFNG	66834816	66839788		Alakulppi, N. S.  et al. 2006	17138064				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Transpl Immunol    2006    16(3-4)    258-62	The impact of donor cytokine gene polymorphisms on the incidence of cytomegalovirus infection after kidney transplantation		147570		CDC	2006	donor IL10 gene polymorphisms may influence the likelihood of CMV infection in the high risk patients investigated.											
149429	Y	preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	12	12q14	IFNG	66834816	66839788		Speer, E. M.  et al. 2006	17145371	IFN-gamma[+874T]			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Hum Immunol    2006    67(11)    915-23	Role of single nucleotide polymorphisms of cytokine genes in spontaneous preterm delivery		147570		CDC	2006	Conditioned on maternal IFN-gamma genotypes, fetal high IFN-gamma producing allele (IFN-gamma[+874T]) was associated with spontaneous PTD (odds ratio = 2.3 [1.2-4.4]).											
149431	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	12	12q14	IFNG	66834816	66839788		Vidyarani, M.  et al. 2006	17159260				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Indian		CDC GDP info	3458	Hs.856			Indian J Med Res    2006    124(4)    403-10	Interferon gamma (IFNGamma) & interleukin-4 (IL-4) gene variants & cytokine levels in pulmonary tuberculosis		147570		CDC	2006	The study suggests a lack of functional association of Interferon gamma +874A polymorphism in tuberculosis in south Indian population. The higher frequency of IL-4 \CT\ genotype in PTB suggests a possible association of IL-4 -590T promoter polymorphism with susceptibility to tuberculosis, and the \CC\ genotype may be associated with protection.											
149432		heart transplant	CARDIOVASCULAR	CARD		12	12q14	IFNG	66834816	66839788		Girnita, D. M.  et al. 2006	17198275				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Hispanic Caucasian		CDC GDP info	3458	Hs.856			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		147570		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
149433		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Babel, N.  et al. 2006	17209781				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Periodontol    2006    77(12)    1978-1983	Analysis of Tumor Necrosis Factor-alpha, Transforming Growth Factor-beta, Interleukin-10, IL-6, and Interferon-gamma Gene Polymorphisms in Patients With Chronic Periodontitis		147570		CDC	2006	The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.											
149434		hepatitis B, chronic IgE	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Abbott, W.  et al. 2007	17211638			Intron	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Immunogenetics    2007	Polymorphism in intron 1 of the interferon-gamma gene influences both serum immunoglobulin E levels and the risk for chronic hepatitis B virus infection in Polynesians		147570		CDC	2007												
149435		Rubella vaccine, cytokine response to	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Ovsyannikova, I. G.  et al. 2007	17215337				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Vaccine Immunol    2007	Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination		147570		CDC	2007												
149436	N	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Moran, A.  et al. 2007	17217140	IFNG  +874T/A			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Int J Tuberc Lung Dis    2007    11(1)    113-5	No association between the +874T/A single nucleotide polymorphism in the IFN-gamma gene and susceptibility to TB		147570		CDC	2007												
149437	N	kidney transplant	RENAL	REN		12	12q14	IFNG	66834816	66839788		Azarpira, N.  et al. 2006	17238853				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Exp Clin Transplant    2006    4(2)    528-31	Cytokine gene polymorphisms in renal transplant recipients		147570		CDC	2006	Our results demonstrate that cytokine gene polymorphisms did not influence the early outcome of kidney transplantation.											
149439		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Scola, L.  et al. 2006	17261759				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Ann N Y Acad Sci    2006    1089    104-109	Cytokine Gene Polymorphisms and Breast Cancer Susceptibility		147570		CDC	2006	further studies involving larger numbers of subjects are required.											
149440	Y	tuberculosis	PHARMACOGENOMIC	PHARM	Tuberculosis, Meningeal|Tuberculosis, Miliary|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Sallakci, N.  et al. 2007	17276141	IFNG  +874T-A			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Caucasian;Turkish		CDC GDP info	3458	Hs.856			Tuberculosis (Edinb)    2007	Interferon-gamma gene+874T-A polymorphism is associated with tuberculosis and gamma interferon response		147570		CDC	2007			interferon									
149441		multiple sclerosis	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Izad, M.  et al. 2004	17301401				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Iran J Allergy Asthma Immunol    2004    3(3)    115-9	Interferon-gamma gene polymorphism in Iranian patients with multiple sclerosis		147570		CDC	2004												
149442	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Nakkuntod, J.  et al. 2006	17348243				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Thai		CDC GDP info	3458	Hs.856			Asian Pac J Allergy Immunol    2006    24(4)    207-11	Association of TNF-alpha, TNF-beta, IFN-gamma and IL-1Ra gene polymorphisms with Graves' disease in the Thai population		147570		CDC	2006												
149444		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	12	12q14	IFNG	66834816	66839788		Gidvani, V.  et al. 2007	17373677				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		147570		CDC	2007												
149445	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Chang, Y. T.  et al. 2007	17388919				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147570		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149446	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Sahiratmadja, E.  et al. 2007	17392024				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Tuberculosis (Edinb)    2007	Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia		147570		CDC	2007												
149447		idiopathic inflammatory myopathies	IMMUNE	IMM	Myositis|Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Chinoy, H.  et al. 2007	17405833				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Caucasian		CDC GDP info	3458	Hs.856			Ann Rheum Dis    2007	Interferon-Gamma and Interleukin-4 Gene polymorphisms in UK caucasian idiopathic inflammatory myopathy patients		147570		CDC	2007	Genetic markers in the IFN-gamma gene demonstrate significant allelic associations with the IIMs in a UK Caucasian population. The SNPs tested in this study within the region coding for IL-4 fail to show significant associations with susceptibility to IIM disease.											
149448		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Seno, H.  et al. 2007	17444864				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147570		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149450	N	leishmaniasis	INFECTION	INF	Leishmaniasis, Cutaneous|Disease Susceptibility	12	12q14	IFNG	66834816	66839788		Matos, G. I.  et al. 2007	17456233				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Brazilian		CDC GDP info	3458	Hs.856			BMC Infect Dis    2007    7(1)    33	IFNG +874T/A polymorphism is not associated with American tegumentary leishmaniasis susceptibility but can influence Leishmania induced IFN-g production		147570		CDC	2007												
149451		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	12	12q14	IFNG	66834816	66839788		Ali, S.  et al. 2007	17477815				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		147570		CDC	2007												
149452		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q14	IFNG	66834816	66839788		Kumar, R.  et al. 2007	17498265				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Tissue Antigens    2007    69(6)    557-67	Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India		147570		CDC	2007												
149453		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Yilmaz, V.  et al. 2007	17509455				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Hum Immunol    2007    68(6)    544-549	Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis		147570		CDC	2007												
149454		graves' ophthalmopathy	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Bednarczuk, T.  et al. 2007	17521325				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Endocrinol (Oxf)    2007	Susceptibility genes in Graves' ophthalmopathy		147570		CDC	2007												
149455	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Li, Y.  et al. 2007	17532201	IFN-gamma T874A			Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Respir Med    2007	Polymorphisms of STAT-6, STAT-4 and IFN-gamma genes and the risk of asthma in Chinese population		147570		CDC	2007	Our findings suggest that STAT-4 T90089C and IFN-gamma T874A polymorphisms might be the genetic factors for the risk of asthma in the Chinese population. In addition, the significant interactions among STAT-6 G2964A, STAT-4 T90089C and IFN-gamma T874A may increase an individual\s susceptibility and contribute to the pathogenesis of asthma.											
149456		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Budak, F.  et al. 2007	17544674				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Turkish		CDC GDP info	3458	Hs.856			Cytokine    2007	IL-10 and IL-6 gene polymorphisms as potential host susceptibility factors in Brucellosis		147570		CDC	2007												
149458	Y	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Rasouli, M.  et al. 2007	17566759				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Cytokine    2007	Association of interferon-gamma and interleukin-4 gene polymorphisms with susceptibility to brucellosis in Iranian patients		147570		CDC	2007												
149459		Omenn syndrome severe combined immunideficiency	IMMUNE	IMM	Severe Combined Immunodeficiency|Graft vs Host Disease	12	12q14	IFNG	66834816	66839788		Haq, I. J.  et al. 2007	17572155				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Clin Immunol    2007	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes		147570		CDC	2007												
149460	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	12	12q14	IFNG	66834816	66839788		Ribeiro, C. S.  et al. 2007	17612762				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Mem Inst Oswaldo Cruz    2007    102(4)    435-40	Association of cytokine genetic polymorphism with hepatites B infection evolution in adult patients		147570		CDC	2007												
149461		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Bulat-Kardum, L.  et al. 2006	16476014			promoter	Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Scand J Immunol    2006    63(2)    142-50	Interferon-gamma Receptor-1 Gene Promoter Polymorphisms (G-611A; T-56C) and Susceptibility to Tuberculosis		107470		CDC	2006												
149463		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6q23-q24	IFNGR1	137560314	137582200		Mattyasovszky, S.  et al. 2006	16563189				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Japanese;Caucasian;European		CDC GDP info	3459	Hs.520414			Arthritis Res Ther    2006    8(3)    R63	IFNGR1 single nucleotide polymorphisms in rheumatoid arthritis		107470		CDC	2006												
149464		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	6	6q23-q24	IFNGR1	137560314	137582200		Cooke, G. S.  et al. 2006	16690980				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Am J Respir Crit Care Med    2006	Polymorphism within the Interferon Gamma/Receptor Complex is Associated with Pulmonary Tuberculosis		107470		CDC	2006	These results provide evidence of a significant role for genetic variation at the IFNG locus and provide detailed understanding of the genetic mechanisms underlying this association.											
149465		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Guglielmi, L.  et al. 2006	16867043			promoter	Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		107470		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
149466		hepatitis B	INFECTION	INF	Hepatitis B	6	6q23-q24	IFNGR1	137560314	137582200		Cheong, J. Y.  et al. 2006	16944293				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Korean		CDC GDP info	3459	Hs.520414			Biochem Genet    2006    44(5-6)    246-55	Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection		107470		CDC	2006												
149468		leishmaniasis, post-kala-azar	INFECTION	INF	Leishmaniasis, Cutaneous|Leishmaniasis, Visceral|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Salih, M. A.  et al. 2006	17136124				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Gambia		CDC GDP info	3459	Hs.520414			Genes Immun    2006	IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan		107470		CDC	2006												
149469		measles vaccine immunity	IMMUNE	IMM		6	6q23-q24	IFNGR1	137560314	137582200		Dhiman, N.  et al. 2007	17152005				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		107470		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149470	Y	atopic dermatitis, ocular	VISION	VIS	Cataract|Dermatitis, Atopic	6	6q23-q24	IFNGR1	137560314	137582200		Matsuda, A.  et al. 2007	17251453	IFNGR1  -56T		promoter	Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Invest Ophthalmol Vis Sci    2007    48(2)    583-9	Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts		107470		CDC	2007	The -56T allele in the IFNGR1 promoter results in higher IFNGR1 transcriptional activity and represents a genetic risk factor for atopic cataracts.											
149472	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Sahiratmadja, E.  et al. 2007	17392024				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Tuberculosis (Edinb)    2007	Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia		107470		CDC	2007												
149473	Y	tuberculosis tumor necrosis factor-alpha	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Stein, C. M.  et al. 2007	17431682				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Hum Genet    2007	Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression		107470		CDC	2007												
149475		Omenn syndrome severe combined immunideficiency	IMMUNE	IMM	Severe Combined Immunodeficiency|Graft vs Host Disease	6	6q23-q24	IFNGR1	137560314	137582200		Haq, I. J.  et al. 2007	17572155				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Clin Immunol    2007	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes		107470		CDC	2007												
149476	Y	arthritis lupus erythematosus	IMMUNE	IMM		6	6q23-q24	IFNGR1	137560314	137582200		Yao, X.  et al. 2007	17618444				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			Arch Dermatol Res    2007	The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients		107470		CDC	2007	the IFNGR polymorphisms (Val14Met and Gln64Arg) are protective in SLE in Chinese patients.											
149477		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	21	21q22.11	IFNGR2	33679168	33731696		Cooke, G. S.  et al. 2006	16690980				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDP info	3460	Hs.517240			Am J Respir Crit Care Med    2006	Polymorphism within the Interferon Gamma/Receptor Complex is Associated with Pulmonary Tuberculosis		147569		CDC	2006	These results provide evidence of a significant role for genetic variation at the IFNG locus and provide detailed understanding of the genetic mechanisms underlying this association.											
149479		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	21	21q22.11	IFNGR2	33679168	33731696		Hou, L.  et al. 2006	16885196				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDP info	3460	Hs.517240			Carcinogenesis    2006	Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer		147569		CDC	2006												
149480		hepatitis B	INFECTION	INF	Hepatitis B	21	21q22.11	IFNGR2	33679168	33731696		Cheong, J. Y.  et al. 2006	16944293				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2	Korean		CDC GDP info	3460	Hs.517240			Biochem Genet    2006    44(5-6)    246-55	Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection		147569		CDC	2006												
149481	N	testicular cancer	CANCER	CAN	Seminoma|Testicular Neoplasms	21	21q22.11	IFNGR2	33679168	33731696		Purdue, M. P.  et al. 2007	17220333				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2	Hispanic Caucasian;non-Hispanic	United States	CDC GDP info	3460	Hs.517240			Cancer Epidemiol Biomarkers Prev    2007    16(1)    77-83	A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors		147569		CDC	2007	our findings suggest that polymorphisms in TGFB1 and LTA/TNF, and possibly other immune function genes, may influence susceptibility to TGCT.											
149482	Y	arthritis lupus erythematosus	IMMUNE	IMM		21	21q22.11	IFNGR2	33679168	33731696		Yao, X.  et al. 2007	17618444				Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDP info	3460	Hs.517240			Arch Dermatol Res    2007	The interferon-gamma receptor gene polymorphisms (Val14Met and Gln64Arg) are not associated with systemic lupus erythematosus in Chinese patients		147569		CDC	2007	the IFNGR polymorphisms (Val14Met and Gln64Arg) are protective in SLE in Chinese patients.											
149484			NORMALVARIATION	NV		12	12q22-q23	IGF1	101313805	101398454		Hamajima, N.  et al. 2002	12164325				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147440		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
149485	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Al-Zahrani, A.  et al. 2006	16306136				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Hum Mol Genet    2006    15(1)    1-10	IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer		147440		CDC	2006												
149487		colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Samowitz, W. S.  et al. 2006	16448675				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Mutat Res    2006	Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer		147440		CDC	2006												
149488		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Slattery, M. L.  et al. 2006	16489531				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Minnesota|California|Utah	CDC GDP info	3479	Hs.160562			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		147440		CDC	2006			ibuprofen-type drugs									
149489		body mass	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Voorhoeve, P. G.  et al. 2006	16498050				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Netherlands	CDC GDP info	3479	Hs.160562			Eur J Endocrinol    2006    154(3)    379-88	Association between an IGF-I gene polymorphism and body fatness		147440		CDC	2006	Because the differences between both genotypes were small, it seems likely that the genetic variability due to this IGF-I polymorphism impacts only slightly on body composition. Importantly, our study suggested that associations between this IGF-I promoter polymorphism and body composition possibly reflect a gene-environmental interaction of this polymorphism and that an environment that promotes obesity leads to a slightly more pronounced fat accumulation in variant carriers of this IGF-I polymorphism.											
149490	Y	myocardial infarct, mortality in	CARDIOVASCULAR	CARD	Myocardial Infarction	12	12q22-q23	IGF1	101313805	101398454		Yazdanpanah, M.  et al. 2006	16635594			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2		Netherlands	CDC GDP info	3479	Hs.160562			Am J Cardiol    2006    97(9)    1274-6	An insulin-like growth factor-I promoter polymorphism is associated with increased mortality in subjects with myocardial infarction in an elderly caucasian population		147440		CDC	2006												
149491	Y	microalbuminuria	METABOLIC	MET	Albuminuria|Cardiovascular Diseases|Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Rietveld, I.  et al. 2006	16645019				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Eur J Endocrinol    2006    154(5)    715-21	An insulin-like growth factor-I gene polymorphism modifies the risk of microalbuminuria in subjects with an abnormal glucose tolerance		147440		CDC	2006	In subjects with AGT, a higher risk for MA was observed in variant carriers than in carriers of the wild type genotype of this IGF-I gene polymorphism. Since MA is primarily associated with cardiovascular disease in subjects with AGT, our study suggests that variant carriers have a higher risk for cardiovascular disease than carriers of the wild type when they develop an AGT.											
149492	Y	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Rietveld, I.  et al. 2006	16873705				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Diabetes    2006    55(8)    2387-91	An igf-I gene polymorphism modifies the risk of diabetic retinopathy		147440		CDC	2006	our findings suggest that this IGF-I gene polymorphism is associated with an increased risk of diabetic retinopathy.											
149493	Y	bone density fractures, vertebral	METABOLIC	MET	Osteoporosis|Osteoporosis, Postmenopausal|Fractures, Bone|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Rivadeneira, F.  et al. 2006	16939403				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			J Bone Miner Res    2006    21(9)    1443-56	Estrogen Receptor beta (ESR2) Polymorphisms in Interaction With Estrogen Receptor alpha (ESR1) and Insulin-Like Growth Factor I (IGF1) Variants Influence the Risk of Fracture in Postmenopausal Women		147440		CDC	2006	Variants of ESR2 alone and in interaction with ESR1 and IGF1 influence the risk of fracture in postmenopausal women.											
149494		breast cancer	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Slattery, M. L.  et al. 2006	17051426				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	non-Hispanic		CDC GDP info	3479	Hs.160562			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGFBP3, IRS1, IRS2 and risk of breast cancer in women living in Southwestern United States		147440		CDC	2006	Our data suggest that associations between insulin-related genes and breast cancer risk among women living in the Southwestern United States may be dependent on estrogen exposure and may differ by ethnicity.		body mass hormone replacement therapy									
149495	N	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Deming, S. L.  et al. 2006	17063263				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women		147440		CDC	2006	no significant association was noted between any of the 19 polymorphisms and survival.		menopause									
149496	Y	weight gain	METABOLIC	MET	Weight Gain	12	12q22-q23	IGF1	101313805	101398454		Landmann, E.  et al. 2006	17142521			promoter	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Pediatrics    2006    118(6)    2374-9	Absence of the Wild-type Allele (192 Base Pairs) of a Polymorphism in the Promoter Region of the IGF-I Gene but Not a Polymorphism in the Insulin Gene Variable Number of Tandem Repeat Locus Is Associated With Accelerated Weight Gain in Infancy		147440		CDC	2006	The IGF-I 192-base pair allele may reduce the risk for rapid weight gain in early infancy.											
149497		prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Chen, C.  et al. 2006	17164371				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2461-6	Prostate Cancer Risk in Relation to Selected Genetic Polymorphisms in Insulin-like Growth Factor-I, Insulin-like Growth Factor Binding Protein-3, and Insulin-like Growth Factor-I Receptor		147440		CDC	2006												
149499	Y	microalbuminuria	METABOLIC	MET	Albuminuria|Diabetes Mellitus, Type 1|Diabetes Complications	12	12q22-q23	IGF1	101313805	101398454		Hovind, P.  et al. 2007	17218729				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Eur J Endocrinol    2007    156(1)    83-90	An IGF-I gene polymorphism modifies the risk of developing persistent microalbuminuria in type 1 diabetes		147440		CDC	2007	Subjects with the variant type of an IGF-I gene polymorphism had a significantly increased risk of developing MA. This risk was not mediated through changes in circulating IGF-I levels. Our study suggests that in type 1 diabetes, this IGF-I gene polymorphism is a risk factor of MA.											
149501	Y	mamographic density	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454		Tamimi, R. M.  et al. 2007	17300730				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Breast Cancer Res    2007    9(1)    R18	Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density		147440		CDC	2007	Common genetic variation in IGF1 is strongly associated with percentage mammographic density.											
149502		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Bageman, E.  et al. 2007	17311016				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Br J Cancer    2007	Absence of the common Insulin-like growth factor-1 19-repeat allele is associated with early age at breast cancer diagnosis in multiparous women		147440		CDC	2007			parity									
149503	N	height	DEVELOPMENTAL	DEV	Dwarfism|Laron Syndrome	12	12q22-q23	IGF1	101313805	101398454		Guevara-Aguirre, J.  et al. 2007	17350302			splice	Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Growth Horm IGF Res    2007	Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature		147440		CDC	2007	GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. Heterozygosity is associated with reduction in mean statural SDS, but this is not sufficient to be clinically important and not mediated through measurable differences in circulating IGF-I or IGFBP-3 related to genotype.											
149504	P		NORMALVARIATION	NV		12	12q22-q23	IGF1	101313805	101398454		Henningson, M.  et al. 2007	17484040				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Fam Cancer    2007	Absence of the common IGF1 19 CA-repeat allele is more common among BRCA1 mutation carriers than among non-carriers from BRCA1 families		147440		CDC	2007												
149505		height	DEVELOPMENTAL	DEV		12	12q22-q23	IGF1	101313805	101398454		Lettre, G.  et al. 2007	17546465				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		147440		CDC	2007												
149506		growth response to growth hormone therapy	PHARMACOGENOMIC	PHARM		12	12q22-q23	IGF1	101313805	101398454		Toyoshima, M. T.  et al. 2007	17555512				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Clin Endocrinol (Oxf)    2007	Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature		147440		CDC	2007	 This study demonstrates that ISS children carrying the GHRd3 allele, as a group, present a slightly higher GH sensitivity regarding short-term IGF-1 generation during hGH stimulus than children homozygous for GHRfl allele.											
149508	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	15	15q26.3	IGF1R	97010283	97325282		Adewoye, A. H.  et al. 2006	16886151				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDP info	3480	Hs.592020			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		147370		CDC	2006												
149509	Y	Alzheimer's disease dementia	NEUROLOGICAL	NEUR	Dementia|Alzheimer Disease|Dementia, Vascular	15	15q26.3	IGF1R	97010283	97325282		Garcia, J.  et al. 2006	16983186				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDP info	3480	Hs.592020			Dement Geriatr Cogn Disord    2006    22(5-6)    439-444	Association of Insulin-Like Growth Factor-1 Receptor Polymorphism in Dementia		147370		CDC	2006												
149510		schizophrenia	PSYCH	PSY	Schizophrenia	15	15q26.3	IGF1R	97010283	97325282		Gunnell, D.  et al. 2007	17044098				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2	Irish		CDC GDP info	3480	Hs.592020			Am J Med Genet B Neuropsychiatr Genet    2007    144(1)    117-20	IGF1, growth pathway polymorphisms and schizophrenia		147370		CDC	2007												
149513	Y	premature pubarche	REPRODUCTION	REP	Insulin Resistance|Puberty, Precocious	15	15q26.3	IGF1R	97010283	97325282		Roldan, M. B.  et al. 2007	17442315				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2	Caucasian		CDC GDP info	3480	Hs.592020			Fertil Steril    2007	Association of the GAA1013-->GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche		147370		CDC	2007	This common SNP in the IGF1R gene may be associated with PP caused by premature adrenarche in children.											
149514	Y	hepatitis B liver cancer	CANCER	CAN	Hepatitis B, Chronic|Carcinoma, Hepatocellular	11	11p15.5	IGF2	2106922	2127409		Kim, Y. J.  et al. 2006	16750516				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Korean		CDC GDP info	3481	Hs.373908			Biochem Biophys Res Commun    2006	IGF2 polymorphisms are associated with hepatitis B virus clearance and hepatocellular carcinoma		147470		CDC	2006												
149515	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Villuendas, G.  et al. 2006	16868148	ACAA-insertion/deletion polymorphism at the 3\ UTR of IGFIIR		3' untranslated region	Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	Mexican		CDC GDP info	3481	Hs.373908			Eur J Endocrinol    2006    155(2)    331-6	The ACAA-insertion/deletion polymorphism at the 3' UTR of the IGF-II receptor gene is associated with type 2 diabetes and surrogate markers of insulin resistance		147470		CDC	2006	The ACAA-insertion/deletion polymorphism at the 3\ UTR of IGFIIR is associated with type 2 diabetes and influences surrogate markers of insulin resistance in non-diabetic subjects.											
149516		muscle testing	NORMALVARIATION	NV	Muscular Diseases|Pain|Genetic Predisposition to Disease	11	11p15.5	IGF2	2106922	2127409		Devaney, J. M.  et al. 2007	17289909				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDP info	3481	Hs.373908			J Appl Physiol    2007	IGF-II Gene Region Polymorphisms Related to Exertional Muscle Damage		147470		CDC	2007			physical activity									
149517	Y	birth weight fetal growth	REPRODUCTION	REP		11	11p15.5	IGF2	2106922	2127409		Kaku, K.  et al. 2007	17407457				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDP info	3481	Hs.373908			Acta Paediatr    2007    96(3)    363-7	Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth		147470		CDC	2007	These findings indicate that both IGF2 and IGF2R gene variants are associated with fetal growth.											
149518		anorexia nervosa perfectionism	PSYCH	PSY	Anorexia Nervosa	11	11p15.5	IGF2	2106922	2127409		Bachner-Melman, R.  et al. 2007	17440932				Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3			CDC GDP info	3481	Hs.373908			Am J Med Genet B Neuropsychiatr Genet    2007	Anorexia nervosa, perfectionism, and dopamine D4 receptor (DRD4)		147470		CDC	2007												
149520		muscle testing	NORMALVARIATION	NV	Muscular Diseases|Pain|Genetic Predisposition to Disease	11	11p15.5	IGF2AS	2118312	2126470		Devaney, J. M.  et al. 2007	17289909				Insulin-like growth factor 2 antisense	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016412			CDC GDP info	51214	Hs.272259			J Appl Physiol    2007	IGF-II Gene Region Polymorphisms Related to Exertional Muscle Damage				CDC	2007			physical activity									
149521		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	3	3q27.2	IGF2BP2	186844220	187025521		Saxena, R. et al.  et al. 2007	17463246				Insulin-like growth factor 2 mRNA binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006548			CDC GDP info	10644	Hs.35354			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels		608289		CDC	2007												
149523	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27.2	IGF2BP2	186844220	187025521		Zeggini, E.  et al. 2007	17463249				Insulin-like growth factor 2 mRNA binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006548			CDC GDP info	10644	Hs.35354			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		608289		CDC	2007												
149524	Y	birth weight fetal growth	REPRODUCTION	REP		6	6q26	IGF2R	160310120	160447573		Kaku, K.  et al. 2007	17407457				Insulin-like growth factor 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000876.1			CDC GDP info	3482	Hs.487062			Acta Paediatr    2007    96(3)    363-7	Insulin-like growth factor 2 (IGF2) and IGF2 receptor gene variants are associated with fetal growth		147280		CDC	2007	These findings indicate that both IGF2 and IGF2R gene variants are associated with fetal growth.											
149525		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p13.3	IGFALS	1780419	1783710			16404426				Insulin-like growth factor binding protein, acid labile subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC025681	Caucasian;European		CDC GDP info	3483	Hs.839			Br J Cancer    2006	Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk		601489		CDC	2006												
149526	N	breast cancer	CANCER	CAN	Breast Neoplasms	16	16p13.3	IGFALS	1780419	1783710		Deming, S. L.  et al. 2006	17063263				Insulin-like growth factor binding protein, acid labile subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC025681			CDC GDP info	3483	Hs.839			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women		601489		CDC	2006	no significant association was noted between any of the 19 polymorphisms and survival.		menopause									
149528	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetic Angiopathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7p13-p12	IGFBP1	45894483	45899792		Stephens, R. H.  et al. 2005	16306374				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596			CDC GDP info	3484	Hs.642938			Diabetes    2005    54(12)    3547-53	Polymorphisms in IGF-binding protein 1 are associated with impaired renal function in type 2 diabetes		146730		CDC	2005	we have described the first genomic markers to be associated with diabetic microvascular complications within the human IGFBP1 gene.											
149530		breast cancer prostate cancer	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP1	45894483	45899792		Cheng, I.  et al. 2006	17035411				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596		California|	CDC GDP info	3484	Hs.642938			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1993-7	Haplotype-Based Association Studies of IGFBP1 and IGFBP3 with Prostate and Breast Cancer Risk		146730		CDC	2006												
149531		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7p13-p12	IGFBP1	45894483	45899792		Chen, C.  et al. 2006	17164371				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596			CDC GDP info	3484	Hs.642938			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2461-6	Prostate Cancer Risk in Relation to Selected Genetic Polymorphisms in Insulin-like Growth Factor-I, Insulin-like Growth Factor Binding Protein-3, and Insulin-like Growth Factor-I Receptor		146730		CDC	2006												
149532	N	mamographic density	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP1	45894483	45899792		Tamimi, R. M.  et al. 2007	17300730				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596			CDC GDP info	3484	Hs.642938			Breast Cancer Res    2007    9(1)    R18	Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density		146730		CDC	2007	Common genetic variation in IGF1 is strongly associated with percentage mammographic density.											
149534	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Al-Zahrani, A.  et al. 2006	16306136				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Hum Mol Genet    2006    15(1)    1-10	IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer		146732		CDC	2006												
149535		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396			16404426				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1	Caucasian;European		CDC GDP info	3486	Hs.450230			Br J Cancer    2006	Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk		146732		CDC	2006												
149536		colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Samowitz, W. S.  et al. 2006	16448675				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Mutat Res    2006	Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer		146732		CDC	2006												
149537		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Slattery, M. L.  et al. 2006	16489531				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		Minnesota|California|Utah	CDC GDP info	3486	Hs.450230			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		146732		CDC	2006			ibuprofen-type drugs									
149539		breast cancer prostate cancer	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Cheng, I.  et al. 2006	17035411				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1		California|	CDC GDP info	3486	Hs.450230			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1993-7	Haplotype-Based Association Studies of IGFBP1 and IGFBP3 with Prostate and Breast Cancer Risk		146732		CDC	2006												
149540		schizophrenia	PSYCH	PSY	Schizophrenia	7	7p13-p12	IGFBP3	45918368	45927396		Gunnell, D.  et al. 2007	17044098				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1	Irish		CDC GDP info	3486	Hs.450230			Am J Med Genet B Neuropsychiatr Genet    2007    144(1)    117-20	IGF1, growth pathway polymorphisms and schizophrenia		146732		CDC	2007												
149542	N	breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Deming, S. L.  et al. 2006	17063263				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women		146732		CDC	2006	no significant association was noted between any of the 19 polymorphisms and survival.		menopause									
149543		muscle testing	NORMALVARIATION	NV	Muscular Diseases|Pain|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Devaney, J. M.  et al. 2007	17289909				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			J Appl Physiol    2007	IGF-II Gene Region Polymorphisms Related to Exertional Muscle Damage		146732		CDC	2007			physical activity									
149544	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Cox, A. et al  et al. 2007	17293864				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		146732		CDC	2007												
149546	N	height	DEVELOPMENTAL	DEV	Dwarfism|Laron Syndrome	7	7p13-p12	IGFBP3	45918368	45927396		Guevara-Aguirre, J.  et al. 2007	17350302			splice	Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Growth Horm IGF Res    2007	Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature		146732		CDC	2007	GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. Heterozygosity is associated with reduction in mean statural SDS, but this is not sufficient to be clinically important and not mediated through measurable differences in circulating IGF-I or IGFBP-3 related to genotype.											
149547		height	DEVELOPMENTAL	DEV		7	7p13-p12	IGFBP3	45918368	45927396		Lettre, G.  et al. 2007	17546465				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		146732		CDC	2007												
149549	Y	insulin-like growth factor	METABOLIC	MET		7	7p13-p12	IGFBP3	45918368	45927396		Cheng, I.  et al. 2007	17566087				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			J Clin Endocrinol Metab    2007	Genetic Determinants of Circulating IGF-I, IGFBP-1 and IGFBP-3 Levels in a Multiethnic Population		146732		CDC	2007	In summary, our study suggests that common genetic variation in IGFBP3 influences circulating levels of IGFBP-3 among African-Americans, Native Hawaiians, Japanese-Americans, Latinos, and Whites.											
149550		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Genetic Predisposition to Disease	17	17q12-q21.1	IGFBP4	35853201	35867508			16540175				Insulin-like growth factor binding protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001552			CDC GDP info	3487	Hs.462998			J Reprod Immunol    2006	Pregnancy-associated plasma protein-A polymorphism and the risk of recurrent pregnancy loss		146733		CDC	2006												
149551	P		NORMALVARIATION	NV		14	14q32.33	IGHG1	105273724	105402696		Giambra, V.  et al. 2006	17044868				Immunoglobulin heavy constant gamma 1 (G1m marker)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AK090461	European;Asian		CDC GDP info	3500	Hs.510635			Ann Hum Genet    2006    70(Pt 6)    946-50	Immunoglobulin Enhancer HS1,2 polymorphism		147100		CDC	2006												
149552	Y	atopy	IMMUNE	IMM	Hypersensitivity|Genetic Predisposition to Disease	14	14q32.33	IGHG1	105273724	105402696		Oxelius, V. A.  et al. 2006	17177686				Immunoglobulin heavy constant gamma 1 (G1m marker)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AK090461			CDC GDP info	3500	Hs.510635			Clin Exp Allergy    2006    36(12)    1616-24	Immunoglobulin constant heavy G chain genes as risk factors in childhood allergies		147100		CDC	2006	IgG allotypes, immunochemical and functional variants of IgG molecules from IGHG genes are associated with atopy.											
149553		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q13.2-q13.4	IGHMBP2	68427894	68464645		Shen, J.  et al. 2006	16752224				Immunoglobulin mu binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002180.1			CDC GDP info	3508	Hs.503048			Breast Cancer Res Treat    2006	IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk		600502		CDC	2006			PAH-DNA adduct exposure smoking (tobacco)									
149555		leukemia	CANCER	CAN	Leukemia, B-cell, Chronic	16	14q32.33	IGHV	31880823	31881055		Smolej, L.  et al. 2006	17018398				immunoglobulin heavy variable group				CDC GDP info	3509				Haematologica    2006    91(10)    1432-1433	Plasma levels of basic fibroblast growth factor and vascular endothelial growth factor and their association with IgVH mutation status in patients with B-cell chronic lymphocytic leukemia		147070		CDC	2006												
149556	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	9	9q31	IKBKAP	110669620	110736217		Kokubo, Y.  et al. 2006	17137217				inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003640.2			CDC GDP info	8518	Hs.494738			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		603722		CDC	2006												
149557	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	IKZF3	35174724	35273967		Benusiglio, P. R.  et al. 2006	17117180				IKAROS family zinc finger 3 (Aiolos)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032707			CDC GDP info	22806	Hs.444388			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		606221		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
149559	N	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	1	1q31-q32	IL10	205007570	205012462			16202743				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		124092		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
149560	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	1	1q31-q32	IL10	205007570	205012462			16403098				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		124092		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149561		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	1	1q31-q32	IL10	205007570	205012462		Kamangar, F.  et al. 2006	16411061				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Finnish	Finland	CDC GDP info	3586	Hs.193717			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		124092		CDC	2006												
149562	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462			16412052				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Exp Immunol    2006    143(2)    281-7	Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients		124092		CDC	2006												
149564	Y	hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic	1	1q31-q32	IL10	205007570	205012462			16425360				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			World J Gastroenterol    2005    11(42)    6656-61	Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3		124092		CDC	2005	There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphis		interferon ribavirin									
149565	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Daher, S.  et al. 2006	16433832				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Am J Reprod Immunol    2006    55(2)    130-5	Cytokine genotyping in preeclampsia		124092		CDC	2006	Our study suggests that PE is associated with IL-10-(1082) polymorphism but not with TNF-(308) polymorphism. On the basis of meta-analysis, we confirm the need for more studies for the evaluation of cytokine genotype in disease.											
149567	Y	prostatic hyperplasia	OTHER	OTH	Prostatic Hyperplasia	1	1q31-q32	IL10	205007570	205012462		Mullan, R. J.  et al. 2006	16461080				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Urology    2006    67(2)    300-5	Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men		124092		CDC	2006	These findings suggest that transforming growth factor-beta 1, tumor necrosis factor-alpha, epidermal growth factor receptor, and vitamin D receptor polymorphisms may be involved in the pathogenesis of BPH.											
149568		nephropathy, IgA	RENAL	REN		1	1q31-q32	IL10	205007570	205012462		Schena, F. P.  et al. 2006	16493441				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Eur J Hum Genet    2006	Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy		124092		CDC	2006												
149569		sepsis	INFECTION	INF	Sepsis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462			16537004			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Chin Med J (Engl)    2006    119(3)    197-201	Interleukin 10.G microsatellite in the promoter region of the interleukin-10 gene in severe sepsis.		124092		CDC	2006	IL10.											
149571	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Sumnik, Z.  et al. 2006	16567828				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	European		CDC GDP info	3586	Hs.193717			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		124092		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
149572		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	1	1q31-q32	IL10	205007570	205012462		Vasakova, M.  et al. 2006	16573560				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		124092		CDC	2006												
149573	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Nunez, C.  et al. 2006	16579847				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			BMC Med Genet    2006    7(1)    32	Interleukin-10 haplotypes in Celiac Disease in the Spanish population		124092		CDC	2006												
149574		asthma	IMMUNE	IMM	Asthma	1	1q31-q32	IL10	205007570	205012462		Wjst, M.  et al. 2006	16600026				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	German		CDC GDP info	3586	Hs.193717			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		124092		CDC	2006												
149575	Y	sepsis	INFECTION	INF	Sepsis	1	1q31-q32	IL10	205007570	205012462		Baier, R. J.  et al. 2006	16611358				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian		CDC GDP info	3586	Hs.193717			BMC Med    2006    4(1)    10	IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated Very Low Birth Weight infants		124092		CDC	2006	The IL-6 -174 G/C, IL-10 -1082 G/A and CD14 -260 C/T SNPs may alter risk for BSI in ventilated VLBW infants.											
149577		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	1	1q31-q32	IL10	205007570	205012462		Leung, W. K.  et al. 2006	16635219				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		124092		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
149578		breast cancer	CANCER	CAN	Breast Neoplasms|Breast Neoplasms, Male|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Onay, V. U.  et al. 2006	16672066				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			BMC Cancer    2006    6(1)    114	SNP-SNP interactions in breast cancer susceptibility		124092		CDC	2006	The importance of these pathways and their communication in breast cancer predisposition has been emphasized previously, but their biological interactions through SNPs have not been described.											
149579		SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Chong, W. P.  et al. 2006	16672072				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			BMC Infect Dis    2006    6(1)    82	The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome		124092		CDC	2006	IFN-gamma +874A allele was shown to be a risk factor in SARS susceptibility.											
149580	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Chang, Y. T.  et al. 2006	16681592				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		124092		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
149582	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Brown, E. E.  et al. 2006	16702372				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian	Italy	CDC GDP info	3586	Hs.193717			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		124092		CDC	2006												
149583	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Courtin, D.  et al. 2006	16720107				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		124092		CDC	2006												
149584		heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	1	1q31-q32	IL10	205007570	205012462		Tambur, A. R.  et al. 2006	16730575				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		124092		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
149585			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Bagheri, M.  et al. 2006	16734562				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3586	Hs.193717			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		124092		CDC	2006												
149587		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Carlo-Stella, N.  et al. 2006	16762155				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian		CDC GDP info	3586	Hs.193717			Clin Exp Rheumatol    2006    24(2)    179-82	A first study of cytokine genomic polymorphisms in CFS		124092		CDC	2006	We hypothesize that CFS patients can have a genetic predisposition to an immunomodulatory response of an inflammatory nature probably secondary to one or more environmental insults of unknown nature.											
149589	Y	irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Diarrhea	1	1q31-q32	IL10	205007570	205012462		Wang, B. M.  et al. 2006	16780675	IL10  -819 T/T and -592 A/A			Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Zhonghua Nei Ke Za Zhi    2006    45(4)    289-92	A study of interleukin-10 gene polymorphism in irritable bowel syndrome.		124092		CDC	2006	The presence of -819 T/T and -592 A/A genotype may be related to development of D-IBS.											
149590		longevity	AGING	AGE	Inflammation	1	1q31-q32	IL10	205007570	205012462		Capri, M.  et al. 2006	16803995				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian		CDC GDP info	3586	Hs.193717			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		124092		CDC	2006												
149591		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Forte, G. I.  et al. 2006	16803996				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Ann N Y Acad Sci    2006    1067    264-9	Search for genetic factors associated with susceptibility to multiple sclerosis		124092		CDC	2006												
149593		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	1	1q31-q32	IL10	205007570	205012462		Sakamoto, K.  et al. 2006	16820919			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		124092		CDC	2006			5-flurouracil cisplatin									
149594		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	1	1q31-q32	IL10	205007570	205012462		Lee, T. C.  et al. 2006	16824159				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		124092		CDC	2006			Epstein-Barr virus									
149595		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Kamali-Sarvestani, E.  et al. 2006	16863661				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Reprod Immunol    2006	Association study of IL-10 and IFN-gamma gene polymorphisms in Iranian women with preeclampsia		124092		CDC	2006												
149596		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Guglielmi, L.  et al. 2006	16867043			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		124092		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
149597	N	hepatitis B	INFECTION	INF		1	1q31-q32	IL10	205007570	205012462		Zhang, P.  et al. 2006	16883528			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    410-4	Associated study on interleukin 10 gene promoter polymorphisms related to hepatitis B virus infection in Chinese Han population.		124092		CDC	2006												
149598		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Licastro, F.  et al. 2006	16930778				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		124092		CDC	2006												
149599		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	1	1q31-q32	IL10	205007570	205012462			16933851				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Tsitol Genet    2006    40(3)    40-4	Distribution of single nucleotide polymorphisms of IL-10 gene in cystic fibrosis patients		124092		CDC	2006												
149600		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	1	1q31-q32	IL10	205007570	205012462		Basturk, B.  et al. 2006	16938461				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		124092		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149601	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	1	1q31-q32	IL10	205007570	205012462		Tseng, F. C.  et al. 2006	16961803				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		124092		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149603		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Nieters, A.  et al. 2006	16971956				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Germany	CDC GDP info	3586	Hs.193717			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		124092		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
149604		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Bertinetto, F. E.  et al. 2006	16984283				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		124092		CDC	2006												
149606	N	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Snyder, L. D.  et al. 2006	17097497				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Heart Lung Transplant    2006    25(11)    1330-5	Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant		124092		CDC	2006	Polymorphisms of TNF-alpha, IFN-gamma, TGF-beta1, IL-10 and IL-6 do not appear to influence the onset of BOS or graft survival in recipients.											
149607	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	1	1q31-q32	IL10	205007570	205012462		Pieroni, F.  et al. 2006	17113632				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		124092		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
149608	N	kidney transplant	RENAL	REN		1	1q31-q32	IL10	205007570	205012462		Gendzekhadze, K.  et al. 2006	17138053				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		124092		CDC	2006												
149609	Y	cytomegalovirus	INFECTION	INF	Cytomegalovirus Infections	1	1q31-q32	IL10	205007570	205012462		Alakulppi, N. S.  et al. 2006	17138064				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Transpl Immunol    2006    16(3-4)    258-62	The impact of donor cytokine gene polymorphisms on the incidence of cytomegalovirus infection after kidney transplantation		124092		CDC	2006	donor IL10 gene polymorphisms may influence the likelihood of CMV infection in the high risk patients investigated.											
149611		measles vaccine immunity	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Dhiman, N.  et al. 2007	17152005				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		124092		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149612		heart transplant	CARDIOVASCULAR	CARD		1	1q31-q32	IL10	205007570	205012462		Girnita, D. M.  et al. 2006	17198275				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Hispanic Caucasian		CDC GDP info	3586	Hs.193717			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		124092		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
149613		sarcoidosis	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Morais, A.  et al. 2006	17206322				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Rev Port Pneumol    2006    12(6 Suppl 1)    16-7	Anti-inflammatory cytokines gene polymorphisms in sarcoidosis.		124092		CDC	2006	Our results suggest a contribution of the anti-inflammatory cytokines gene polymorphisms in sar- coidosis mainly in what susceptibility and clinical course is concerned. Key-wordgene polymorphisms, anti-inflammatory cytoki- nes, sarcoidosis.											
149615		Rubella vaccine, cytokine response to	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Ovsyannikova, I. G.  et al. 2007	17215337				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Vaccine Immunol    2007	Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination		124092		CDC	2007												
149616	N	testicular cancer	CANCER	CAN	Seminoma|Testicular Neoplasms	1	1q31-q32	IL10	205007570	205012462		Purdue, M. P.  et al. 2007	17220333				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Hispanic Caucasian;non-Hispanic	United States	CDC GDP info	3586	Hs.193717			Cancer Epidemiol Biomarkers Prev    2007    16(1)    77-83	A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors		124092		CDC	2007	our findings suggest that polymorphisms in TGFB1 and LTA/TNF, and possibly other immune function genes, may influence susceptibility to TGCT.											
149618			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Kaur, G.  et al. 2007	17257312				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Indian		CDC GDP info	3586	Hs.193717			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		124092		CDC	2007												
149619		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Scola, L.  et al. 2006	17261759				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Ann N Y Acad Sci    2006    1089    104-109	Cytokine Gene Polymorphisms and Breast Cancer Susceptibility		124092		CDC	2006	further studies involving larger numbers of subjects are required.											
149620		palmoplanta pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Kingo, K.  et al. 2007	17263806				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Br J Dermatol    2007	Association analysis of IL19, IL20 and IL24 genes in palmoplantar pustulosis		124092		CDC	2007	This exploratory study supports the hypothesis that variations of genes of the IL-19 subfamily of cytokines influence susceptibility to PPP. However, due to the limited size of the study samples, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.											
149622		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn	1	1q31-q32	IL10	205007570	205012462		Capasso, M.  et al. 2007	17314689				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Italian		CDC GDP info	3586	Hs.193717			Pediatr Res    2007    61(3)    313-317	Cytokine Gene Polymorphisms in Italian Preterm Infants		124092		CDC	2007												
149623		lung function	OTHER	OTH	Lung Diseases|Pulmonary Disease, Chronic Obstructive	1	1q31-q32	IL10	205007570	205012462		He, J. Q.  et al. 2007	17331973				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Eur Respir J    2007	Polymorphisms of interleukin-10 and its receptor and lung function in COPD		124092		CDC	2007												
149625	N	cytokine lung function	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Josyula, A. B.  et al. 2007	17351514				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Occup Environ Med    2007    49(3)    282-288	Cytokine Genotype and Phenotype Effects on Lung Function Decline in Firefighters		124092		CDC	2007	Cytokine genotypes were associated with the rate of FEV1 decline but did not alter concentrations of sputum cytokine.											
149626			CANCER	CAN	Neoplasms|Inflammation	1	1q31-q32	IL10	205007570	205012462		Huang, H. Y.  et al. 2007	17355643				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	African American;Caucasian		CDC GDP info	3586	Hs.193717			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		124092		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149627			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Zhang, W.  et al. 2007	17369174				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		124092		CDC	2007												
149629		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462			17380888				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		124092		CDC	2007												
149630	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Chang, Y. T.  et al. 2007	17388919				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		124092		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149631	Y	cholesterol cholesterol, HDL cholesterol, LDL cholesterol, VLDL lipoprotein triglycerides	METABOLIC	MET		1	1q31-q32	IL10	205007570	205012462		Du, R.  et al. 2007	17407084			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    206-9	Relationship between polymorphisms of interleukin 10 promoter and serum levels of lipoprotein in the Chinese Han population.		124092		CDC	2007	The results suggest that in the Chinese Han population, the polymorphism at position -1082 in the promoter region of IL10 gene may be associated with the serum HDL-C level and TG level.											
149633	N	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Mattuzzi, S.  et al. 2007	17444587				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		124092		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
149634		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Seno, H.  et al. 2007	17444864				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		124092		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149635		periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	1	1q31-q32	IL10	205007570	205012462		Tervonen, T.  et al. 2007	17448042				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		124092		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
149636	N	colorectal cancer	CANCER	CAN		1	1q31-q32	IL10	205007570	205012462		Talseth, B. A.  et al. 2007	17454884				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		124092		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
149637	N	osteosarcoma	CANCER	CAN	Osteosarcoma|Recurrence	1	1q31-q32	IL10	205007570	205012462		Oliveira, I. D.  et al. 2007	17483704				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Pediatr Hematol Oncol    2007    29(5)    293-297	TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma		124092		CDC	2007												
149638		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Kato, K.  et al. 2007	17487426				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Int J Mol Med    2007    19(6)    933-9	Genetic factors for lone atrial fibrillation		124092		CDC	2007												
149639		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1q31-q32	IL10	205007570	205012462		Kumar, R.  et al. 2007	17498265				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Tissue Antigens    2007    69(6)    557-67	Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India		124092		CDC	2007												
149640		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Yilmaz, V.  et al. 2007	17509455				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Hum Immunol    2007    68(6)    544-549	Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis		124092		CDC	2007												
149641		periodontal disease	IMMUNE	IMM	Abscess|Periapical Periodontitis|Tooth Diseases|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		de Sa, A. R.  et al. 2007	17511783				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Int Endod J    2007	Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses		124092		CDC	2007	The present study suggests that genetic factors are associated with susceptibility to develop symptomatic dental abscesses.											
149642	N	longevity	AGING	AGE		1	1q31-q32	IL10	205007570	205012462		Okayama, N.  et al. 2007	17522354				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Gerontol A Biol Sci Med Sci    2007    62(5)    507-11	Association of interleukin-19 gene polymorphisms with age		124092		CDC	2007												
149643		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Budak, F.  et al. 2007	17544674				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Turkish		CDC GDP info	3586	Hs.193717			Cytokine    2007	IL-10 and IL-6 gene polymorphisms as potential host susceptibility factors in Brucellosis		124092		CDC	2007												
149644		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1q31-q32	IL10	205007570	205012462		Moreno, O. M.  et al. 2007	17546224			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Biomedica    2007    27(1)    56-65	Polymorphisms of IL-10 gene promoter and rheumatoid arthritis in a Colombian population.		124092		CDC	2007												
149646	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		1	1q31-q32	IL10	205007570	205012462		Li, D.  et al. 2007	17568575				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Chim Acta    2007	Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus		124092		CDC	2007	The IL-10 G-1082A and CYP3A5()3 polymorphisms may influence the interindividual variability of tacrolimus pharmacokinetics in Chinese liver transplant patients. This finding provided a new interpretation for the variable immunosuprressant disposition after transplantation.											
149647		Omenn syndrome severe combined immunideficiency	IMMUNE	IMM	Severe Combined Immunodeficiency|Graft vs Host Disease	1	1q31-q32	IL10	205007570	205012462		Haq, I. J.  et al. 2007	17572155				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Immunol    2007	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes		124092		CDC	2007												
149648		infection, postoperative	INFECTION	INF	Bacterial Infections|Esophageal Neoplasms|Postoperative Complications	1	1q31-q32	IL10	205007570	205012462		Azim, K.  et al. 2007	17592300				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Ann Surg    2007    246(1)    122-128	Genetic Polymorphisms and the Risk of Infection Following Esophagectomy. Positive Association with TNF-alpha Gene -308 Genotype		124092		CDC	2007	BACKGROUND DATA: Genetic polymorphisms for immunoregulatory cytokines may explain individual variation in response to trauma.											
149650	N	C-reactive protein myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Lorenzova, A.  et al. 2007	17617027				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Chem Lab Med    2007    45(7)    855-61	High-sensitivity C-reactive protein concentration in patients with myocardial infarction-environmental factors, and polymorphisms in interleukin-10 and CD14 genes		124092		CDC	2007	There was no association between IL-10 and CD14 polymorphisms and myocardial infarction occurrence. Gene-environment interaction may play an important role in influencing hsCRP concentration. Clin Chem Lab Med 2007;45:855-61.		smoking (tobacco)									
149651	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	11	11q23	IL10RA	117362318	117377404		Do, H.  et al. 2006	16491350				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2	Caucasian		CDC GDP info	3587	Hs.504035			Immunogenetics    2006	Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort		146933		CDC	2006												
149652	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	11	11q23	IL10RA	117362318	117377404		Tseng, F. C.  et al. 2006	16961803				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2			CDC GDP info	3587	Hs.504035			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		146933		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149654	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11q23	IL10RA	117362318	117377404		Schosser, A.  et al. 2006	17066477				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2	German		CDC GDP info	3587	Hs.504035			Am J Med Genet B Neuropsychiatr Genet    2006	Homozygosity of the interleukin-10 receptor 1 G330R allele is associated with schizophrenia		146933		CDC	2006												
149655	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	11	11q23	IL10RA	117362318	117377404		Carlson, C. S.  et al. 2006	17115186				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2			CDC GDP info	3587	Hs.504035			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		146933		CDC	2006												
149657		lung function	OTHER	OTH	Lung Diseases|Pulmonary Disease, Chronic Obstructive	11	11q23	IL10RA	117362318	117377404		He, J. Q.  et al. 2007	17331973				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2			CDC GDP info	3587	Hs.504035			Eur Respir J    2007	Polymorphisms of interleukin-10 and its receptor and lung function in COPD		146933		CDC	2007												
149658		measles vaccine immunity	IMMUNE	IMM		21	21q22.1-q22.2	IL10RB	33524100	33591390		Dhiman, N.  et al. 2007	17152005				Interleukin 10 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000628.3			CDC GDP info	3588	Hs.512211			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		123889		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149659		herpesvirus infection	INFECTION	INF	Herpesviridae Infections	3	3p12-q13.2	IL12A	161189322	161196500			16544245				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			J Infect Dis    2006    193(8)    1054-1062	Host Immunogenetics and Control of Human Herpesvirus-8 Infection		161560		CDC	2006	Our observations are the first to provide preliminary evidence suggesting that common variants in key host immune genes could influence the control of HHV-8 infection.											
149660		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	3	3p12-q13.2	IL12A	161189322	161196500		Vasakova, M.  et al. 2006	16573560				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		161560		CDC	2006												
149661	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Brown, E. E.  et al. 2006	16702372				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Italian	Italy	CDC GDP info	3592	Hs.673			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		161560		CDC	2006												
149662			NORMALVARIATION	NV		3	3p12-q13.2	IL12A	161189322	161196500		Bagheri, M.  et al. 2006	16734562				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3592	Hs.673			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		161560		CDC	2006												
149663	Y	birth weight perinatal complications	REPRODUCTION	REP	Enterocolitis, Necrotizing|Bronchopulmonary Dysplasia|Pneumonia|Respiratory Distress Syndrome, Newborn|Ductus Arteriosus, Patent|Hypotension	3	3p12-q13.2	IL12A	161189322	161196500		Bokodi, G.  et al. 2006	16754651	IL12 CTCTAA/GC		promoter	Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Arch Dis Child Fetal Neonatal Ed    2006	The association of Interferon-Gamma t+874a and Interleukin-12 p40 promoter ctctaa/gc polymorphism with the need for respiratory support and perinatal complications in low birth weight neonates		161560		CDC	2006	Carrier state of the IFNgamma(+874)A allele presents an increased risk for premature birth and lung damage, as well as other perinatal complications. The risks of pneumonia and NEC are higher in heterozygotic carriers of the IL12 CTCTAA/GC polymorphism. Further studies are needed to determine whether these associations are the result of altered cytokine-producing capacity in infants carrying the tested alleles.											
149664			NORMALVARIATION	NV		3	3p12-q13.2	IL12A	161189322	161196500		Bagheri, M.  et al. 2006	16764598				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Iranian;Asian	Iran	CDC GDP info	3592	Hs.673			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		161560		CDC	2006												
149665		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Forte, G. I.  et al. 2006	16803996				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Ann N Y Acad Sci    2006    1067    264-9	Search for genetic factors associated with susceptibility to multiple sclerosis		161560		CDC	2006												
149666		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Hou, L.  et al. 2006	16885196				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Carcinogenesis    2006	Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer		161560		CDC	2006												
149667		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	3	3p12-q13.2	IL12A	161189322	161196500		Basturk, B.  et al. 2006	16938461				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		161560		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149668	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	3	3p12-q13.2	IL12A	161189322	161196500		Tseng, F. C.  et al. 2006	16961803				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		161560		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149670	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	3	3p12-q13.2	IL12A	161189322	161196500		Landi, S.  et al. 2006	17062130				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		161560		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
149671		measles vaccine immunity	IMMUNE	IMM		3	3p12-q13.2	IL12A	161189322	161196500		Dhiman, N.  et al. 2007	17152005				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		161560		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149673			NORMALVARIATION	NV		3	3p12-q13.2	IL12A	161189322	161196500		Kaur, G.  et al. 2007	17257312				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2	Indian		CDC GDP info	3592	Hs.673			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		161560		CDC	2007												
149674		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Inflammation	3	3p12-q13.2	IL12A	161189322	161196500		Lee, K. M.  et al. 2007	17361014				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Carcinogenesis    2007	Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, China		161560		CDC	2007	genetic variation in immunoregulatory genes may play an important role in the development of lung cancer in this population.		smoky coal									
149676		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Yilmaz, V.  et al. 2007	17509455				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Hum Immunol    2007    68(6)    544-549	Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis		161560		CDC	2007												
149677		Adamantiades-Behcet's disease	OTHER	OTH	Streptococcal Infections|Behcet Syndrome|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Yanagihori, H.  et al. 2006	16514412			promoter	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			J Invest Dermatol    2006	Role of IL-12B Promoter Polymorphism in Adamantiades-Behcet's Disease Susceptibility		161561		CDC	2006												
149678		asthma	IMMUNE	IMM	Asthma	5	5q31.1-q33.1	IL12B	158674368	158690059		Wjst, M.  et al. 2006	16600026				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	German		CDC GDP info	3593	Hs.674			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		161561		CDC	2006												
149679		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Freidin, M. B.  et al. 2006	16637265				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Russian	Siberia	CDC GDP info	3593	Hs.674			Mol Biol (Mosk)    2006    40(2)    252-62	A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians		161561		CDC	2006												
149681		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Maier, L. M.  et al. 2006	16750991				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		161561		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
149682		hepatitis C liver disease, chronic and cirrhosis	INFECTION	INF	Hepatitis C|Liver Cirrhosis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Suneetha, P. V.  et al. 2006	16789008			3' untranslated region	Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			J Med Virol    2006    78(8)    1055-1060	Studies on TAQ1 polymorphism in the 3'untranslated region of IL-12P40 gene in HCV patients infected predominantly with genotype 3		161561		CDC	2006												
149683	N	Graves' disease Graves' ophthalmopathy hyperthyroidism IgE IL-12	IMMUNE	IMM	Graves Disease|Graves Ophthalmopathy|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Hiromatsu, Y.  et al. 2006	16966828				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Endocr J    2006	Interleukin-12B Gene Polymorphism does not Confer Susceptibility to Graves' Ophthalmopathy in Japanese Population		161561		CDC	2006												
149684	Y	HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Disease Susceptibility	5	5q31.1-q33.1	IL12B	158674368	158690059		Gabutero, E.  et al. 2007	17148969				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			AIDS    2007    21(1)    65-69	Interaction between allelic variation in IL12B and CCR5 affects the development of AIDS		161561		CDC	2007	Epistatic interaction between allelic variants of CCR5 and IL12Bpro exert a significant influence on the clinical outcome of HIV-1 infection.											
149685		measles vaccine immunity	IMMUNE	IMM		5	5q31.1-q33.1	IL12B	158674368	158690059		Dhiman, N.  et al. 2007	17152005				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		161561		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149687	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Cargill, M.  et al. 2007	17236132				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes		161561		CDC	2007												
149688		lymphoma	CANCER	CAN	Lymphoma, Follicular	5	5q31.1-q33.1	IL12B	158674368	158690059		Cerhan, J. R.  et al. 2007	17327408				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Blood    2007	Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival		161561		CDC	2007												
149689	Y	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Chang, Y. T.  et al. 2007	17388919				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		161561		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149690	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Sahiratmadja, E.  et al. 2007	17392024				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Tuberculosis (Edinb)    2007	Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia		161561		CDC	2007												
149692		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	5	5q31.1-q33.1	IL12B	158674368	158690059		Ali, S.  et al. 2007	17477815				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		161561		CDC	2007												
149693		silicosis	IMMUNE	IMM	Silicosis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Stanilova, S.  et al. 2007	17504509				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Int J Immunogenet    2007    34(3)    193-9	Interleukin-12B-3'UTR polymorphism in association with IL-12p40 and IL-12p70 serum levels and silicosis severity		161561		CDC	2007												
149694		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Yilmaz, V.  et al. 2007	17509455				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Hum Immunol    2007    68(6)    544-549	Polymorphisms of interferon-gamma, interleukin-10, and interleukin-12 genes in myasthenia gravis		161561		CDC	2007												
149696		measles vaccine immunity	IMMUNE	IMM		19	19p13.1	IL12RB1	18031370	18070626		Dhiman, N.  et al. 2007	17152005				interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDP info	3594	Hs.567294			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		601604		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149698	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Cargill, M.  et al. 2007	17236132				interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDP info	3594	Hs.567294			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes		601604		CDC	2007												
149699	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Kusuhara, K.  et al. 2007	17284226				interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDP info	3594	Hs.567294			Int J Immunogenet    2007    34(1)    35-44	Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese		601604		CDC	2007												
149700	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Sahiratmadja, E.  et al. 2007	17392024				interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDP info	3594	Hs.567294			Tuberculosis (Edinb)    2007	Association of polymorphisms in IL-12/IFN-gamma pathway genes with susceptibility to pulmonary tuberculosis in Indonesia		601604		CDC	2007												
149702		measles vaccine immunity	IMMUNE	IMM		1	1p31.3-p31.2	IL12RB2	67545634	67635171		Dhiman, N.  et al. 2007	17152005				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2			CDC GDP info	3595	Hs.479347			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		601642		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149703	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Cargill, M.  et al. 2007	17236132				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2			CDC GDP info	3595	Hs.479347			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes		601642		CDC	2007												
149704	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	5	5q31	IL13	132021763	132024700			16403098				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147683		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149705	Y	asthma IgE levels	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		Kabesch, M.  et al. 2006	16461126				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J Allergy Clin Immunol    2006    117(2)    269-74	IL-4/IL-13 pathway genetics strongly influence serum IgE levels and childhood asthma		147683		CDC	2006	These data indicate that only the combined analyses of genetic alterations in the IL-4/IL-13 pathway reveal its actual significance to the development of atopy and childhood asthma.											
149706		nephropathy, IgA	RENAL	REN		5	5q31	IL13	132021763	132024700		Schena, F. P.  et al. 2006	16493441				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Eur J Hum Genet    2006	Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy		147683		CDC	2006												
149707	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Chang, Y. T.  et al. 2006	16681592				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		147683		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
149709		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Maier, L. M.  et al. 2006	16750991				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		147683		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
149710		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Fibrosis	5	5q31	IL13	132021763	132024700		Granel, B.  et al. 2006	16832637				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Caucasian		CDC GDP info	3596	Hs.845			Immunogenetics    2006	Evaluation of interleukin 13 polymorphisms in systemic sclerosis		147683		CDC	2006												
149712		vaccine response	IMMUNE	IMM		5	5q31	IL13	132021763	132024700		Wiertsema, S. P.  et al. 2006	16914241				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Vaccine    2006	Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response		147683		CDC	2006	This study highlights the importance of host genetic factors in vaccine responses.											
149713	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	5	5q31	IL13	132021763	132024700		Tseng, F. C.  et al. 2006	16961803				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147683		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149714	Y	allergic reaction, betalactam	PHARMACOGENOMIC	PHARM		5	5q31	IL13	132021763	132024700		Gueant-Rodriguez, R. M.  et al. 2006	17001290				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Pharmacogenet Genomics    2006    16(10)    713-719	Gene-gene interactions of IL13 and IL4RA variants in immediate allergic reactions to betalactam antibiotics		147683		CDC	2006	Our data suggest that these combinations of IL13 and IL4RA variants are predictors of immediate allergic reactions to betalactams through a mechanism related to IgE production.											
149716	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	5	5q31	IL13	132021763	132024700		Kim, J. J.  et al. 2006	17091279				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Korean		CDC GDP info	3596	Hs.845			Eur Arch Otorhinolaryngol    2006	Polymorphisms in the IL-13 and IL-4 receptor alpha genes and allergic rhinitis		147683		CDC	2006												
149717	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Disease Susceptibility	5	5q31	IL13	132021763	132024700		Waterman, M.  et al. 2006	17183946				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Harefuah    2006    145(11)    789-92, 864	The significance of IL-13 gene +2044G/A mutation in patients with inflammatory bowel disease		147683		CDC	2006	The IL-13 gene +2044G/A mutation has no significant role in susceptibility to and phenotype of IBD.											
149718		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Bernstein, D. I.  et al. 2006	17201240				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Ann Allergy Asthma Immunol    2006    97(6)    800-6	Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes		147683		CDC	2006	Gene-environmental interactions may contribute to the pathogenesis of DA, and gene-gene interactions may modulate this relationship.		diisocyanate									
149720	N	atopic dermatitis, ocular	VISION	VIS	Cataract|Dermatitis, Atopic	5	5q31	IL13	132021763	132024700		Matsuda, A.  et al. 2007	17251453			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Invest Ophthalmol Vis Sci    2007    48(2)    583-9	Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts		147683		CDC	2007	The -56T allele in the IFNGR1 promoter results in higher IFNGR1 transcriptional activity and represents a genetic risk factor for atopic cataracts.											
149721		asthma	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		Lopez, K. I.  et al. 2007	17284225				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Mexican	Mexico	CDC GDP info	3596	Hs.845			Int J Immunogenet    2007    34(1)    27-33	Genetic diversity of the IL-4, IL-4 receptor and IL-13 loci in mestizos in the general population and in patients with asthma from three subpopulations in Mexico		147683		CDC	2007												
149722		atopy vaccine response	IMMUNE	IMM	Hypersensitivity	5	5q31	IL13	132021763	132024700		Baynam, G.  et al. 2007	17291854				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J Allergy Clin Immunol    2007    119(2)    366-74	Parental smoking impairs vaccine responses in children with atopic genotypes		147683		CDC	2007	PS potentiates suppressive effects of variants in immune response genes in children.		smoke (tobacco), passive									
149724	Y	asthma	IMMUNE	IMM		5	5q31	IL13	132021763	132024700		Hosseini-Farahabadi, S.  et al. 2007	17303923			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Iranian		CDC GDP info	3596	Hs.845			Iran J Allergy Asthma Immunol    2007    6(1)    9-14	Association between the Polymorphisms of IL-4 Gene Promoter (-590C>T), IL-13 Coding Region (R130Q) and IL-16 Gene Promoter (-295T>C) and Allergic Asthma		147683		CDC	2007												
149725		asthma	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Respiratory Sounds	5	5q31	IL13	132021763	132024700		Ermers, M. J.  et al. 2007	17313976				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J Allergy Clin Immunol    2007	IL-13 genetic polymorphism identifies children with late wheezing after respiratory syncytial virus infection		147683		CDC	2007	This study revealed distinct clinical, immunologic, and genetic determinants of early and late wheezing after RSV LRTI, indicating distinct pathophysiological mechanisms.											
149726		IgE	IMMUNE	IMM		5	5q31	IL13	132021763	132024700		Sadeghnejad, A.  et al. 2007	17346294				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Pediatr Allergy Immunol    2007	IL13 gene polymorphism association with cord serum immunoglobulin E		147683		CDC	2007												
149728	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Chang, Y. T.  et al. 2007	17388919				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147683		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149729	N	periodontitis	IMMUNE	IMM	Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket	5	5q31	IL13	132021763	132024700		Gonzales, J. R.  et al. 2007	17451413	IL-4 -590 T/T and IL-4 -34 T/T		promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J Clin Periodontol    2007	Single-nucleotide polymorphisms in the IL-4 and IL-13 promoter region in aggressive periodontitis		147683		CDC	2007	This study demonstrated an association between the IL-4 -590 T/T and IL-4 -34 T/T genotypes and AgP. Further research is necessary to prove if there is an association of these polymorphisms with AgP, and if the polymorphisms have a functional effect.											
149731	Y	asthma	PHARMACOGENOMIC	PHARM	Asthma|Eosinophilia	5	5q31	IL13	132021763	132024700		Hunninghake, G. M.  et al. 2007	17561245				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	non-Hispanic		CDC GDP info	3596	Hs.845			J Allergy Clin Immunol    2007	Polymorphisms in IL13, total IgE, eosinophilia, and asthma exacerbations in childhood		147683		CDC	2007	Polymorphisms in IL13 were significantly associated with serum total IgE and eosinophil count in 2 populations.		corticosteroids									
149732	Y	lung function	OTHER	OTH		5	5q31	IL13	132021763	132024700		Sadeghnejad, A.  et al. 2007	17615386			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Am J Respir Crit Care Med    2007	IL13 Promoter Polymorphism -1112C/T Modulates the Adverse Effect of Tobacco Smoking on Lung Function		147683		CDC	2007	An IL13 polymorphism in the promoter region may modulate the adverse effects of cigarette smoking on pulmonary function in long-term cigarette smokers.		smoking (tobacco)									
149733	Y	asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Genetic Predisposition to Disease	X	Xq24	IL13RA1	117745586	117823487		Kim, H. B.  et al. 2006	17006604				Interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2	Korean		CDC GDP info	3597	Hs.496646			J Hum Genet    2006	Gene-gene interaction between IL-13 and IL-13Ralpha1 is associated with total IgE in Korean children with atopic asthma		300119		CDC	2006				IL13		IL13RA1						
149734		asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	X	Xq24	IL13RA1	117745586	117823487		Konstantinidis, A. K.  et al. 2007	17392323				Interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2	Caucasian		CDC GDP info	3597	Hs.496646			Eur Respir J    2007	Genetic association studies of IL13RA1 polymorphisms in asthma and atopy		300119		CDC	2007												
149736	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	4	4q31	IL15	142777203	142874062		Bierbaum, S.  et al. 2006	16629787				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1	German	Germany	CDC GDP info	3600	Hs.168132			Allergy    2006    61(5)    576-80	Confirmation of association of IL-15 with pediatric asthma and comparison of different controls		600554		CDC	2006	Association of IL-15 with asthma was confirmed. Although super controls might be the most suitable, more numbers are needed. This might hamper the value of these controls especially when investigating common diseases.											
149737		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q31	IL15	142777203	142874062		Rueda, B.  et al. 2007	17616399				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1	Spanish;Caucasian		CDC GDP info	3600	Hs.168132			Cytokine    2007	Molecular screening and association study of IL15 gene polymorphisms in rheumatoid arthritis		600554		CDC	2007												
149738		body mass	METABOLIC	MET	Obesity	10	10p15-p14	IL15RA	6030862	6060148		Di Renzo, L.  et al. 2006	17121316				Interleukin 15 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR592477	Caucasian		CDC GDP info	3601	Hs.524117			Eur Rev Med Pharmacol Sci    2006    10(5)    235-45	Normal Weight Obese syndrome		601070		CDC	2006												
149739	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Failure|Recurrence	15	15q26.3	IL16	79262254	79392157		Kimball, P.  et al. 2006	16447204				Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3			CDC GDP info	3603	Hs.459095			Liver Transpl    2006    12(2)    247-252	Allograft TNFbeta and IL16 polymorphisms influence HCV recurrence and severity after liver transplantation		603035		CDC	2006	allograft TNFbeta and IL16 gene polymorphisms may be useful markers to predict the severity of disease recurrence among HCV+ patients after liver transplantation.											
149741	Y	asthma	IMMUNE	IMM	Asthma	6	6p12	IL17F	52209442	52217257		Kawaguchi, M.  et al. 2006	16630936				Interleukin 17F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052872.3			CDC GDP info	112744	Hs.272295			J Allergy Clin Immunol    2006    117(4)    795-801	IL-17F sequence variant (His161Arg) is associated with protection against asthma and antagonizes wild-type IL-17F activity		606496		CDC	2006	The current findings indicate that the IL-17F H161R variant influences the risk of asthma and is a natural IL-17F antagonist, suggesting a potential role for IL-17F in the etiology of asthma.											
149742		asthma chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Asthma|Pulmonary Disease, Chronic Obstructive	6	6p12	IL17F	52209442	52217257		Hizawa, N.  et al. 2006	16961709				Interleukin 17F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052872.3			CDC GDP info	112744	Hs.272295			Clin Exp Allergy    2006    36(9)    1109-14	Role of interleukin-17F in chronic inflammatory and allergic lung disease		606496		CDC	2006												
149744	Y	rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	11	11q22.2-q22.3	IL18	111519185	111540050			16406079	A allele in the IL-18/-607 gene promoter region			Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Korean		CDC GDP info	3606	Hs.83077			Int J Pediatr Otorhinolaryngol    2006	Interleukin-18/-607 gene polymorphism in allergic rhinitis		600953		CDC	2006	The A allele in the IL-18/-607 gene promoter region may be involved in the development of allergic rhinitis in the Korean population.											
149746	Y	anti-GAD65 antibody	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1	11	11q22.2-q22.3	IL18	111519185	111540050		Hiromatsu, Y.  et al. 2006	16433722	IL 18 -4675G/-607A/-137G	protective		Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077	protective		Diabet Med    2006    23(2)    211-5	IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease		600953		CDC	2006	These findings in a Japanese population indicate that Graves\ disease patients carrying the GG genotype at position -4657 of the promoter of the IL-18 gene or a gene in linkage disequilibrium with the -4675G/-607A/-137G haplotype have a low risk for the development of GAD65Ab in Graves\ disease.											
149747	Y	asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Imboden, M.  et al. 2006	16433859				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Clin Exp Allergy    2006    36(2)    211-8	The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study		600953		CDC	2006	Our results strongly suggest that this variant of the IL-18 gene is an important genetic determinant involved in the development of atopic asthma.											
149748		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Obesity|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Szeszko, J. S.  et al. 2006	16443795				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Caucasian;European		CDC GDP info	3606	Hs.83077			Diabetes    2006    55(2)    559-562	Analysis of Polymorphisms of the Interleukin-18 Gene in Type 1 Diabetes and Hardy-Weinberg Equilibrium Testing		600953		CDC	2006												
149749	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Mojtahedi, Z.  et al. 2006	16492204			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Iranian	Iran	CDC GDP info	3606	Hs.83077			Diabet Med    2006    23(3)    235-9	Association of IL-18 promoter polymorphisms with predisposition to Type 1 diabetes		600953		CDC	2006	The results of this study show that polymorphisms of IL-18 promoter confer susceptibility to Type 1 diabetes in Iranian individuals with onset at older ages. Further investigations are necessary to clarify the effect of IL-18 variants on immune regulation.											
149750	Y	collagen disease juvenile arthritis rheumatoid arthritis Still's disease	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid	11	11q22.2-q22.3	IL18	111519185	111540050		Sugiura, T.  et al. 2006	16563174			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Arthritis Res Ther    2006    8(3)    R60	A promoter haplotype of the interleukin-18 gene is associated with juvenile idiopathic arthritis in the Japanese population		600953		CDC	2006												
149751	N	Graves' disease Graves' ophtalmopathy	IMMUNE	IMM	Graves Disease|Graves Ophthalmopathy|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Mukai, T.  et al. 2006	16571086				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Thyroid    2006    16(3)    243-8	Lack of association of interleukin-18 gene polymorphisms with susceptibility of Japanese populations to graves' disease or graves' ophthalmopathy		600953		CDC	2006	These results suggest that IL-18 gene polymorphisms are not major genetic factors for susceptibility to GD in a Japanese population. Further studies with adequate sized data set in the subset analyses for GO are needed.											
149752	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Spontaneous|Genetic Predisposition to Disease|Recurrence	11	11q22.2-q22.3	IL18	111519185	111540050		Naeimi, S.  et al. 2006	16584830			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Iranian		CDC GDP info	3606	Hs.83077			Eur J Obstet Gynecol Reprod Biol    2006	Interleukin-18 gene promoter polymorphisms and recurrent spontaneous abortion		600953		CDC	2006	The results of this study showed that IL-18 gene promoter polymorphisms at positions -607 and -137 did not confer susceptibility to RSA in southern Iranian patients.											
149754		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Pawlik, A.  et al. 2006	16671950			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Polish	Poland	CDC GDP info	3606	Hs.83077			Tissue Antigens    2006    67(5)    415-8	Interleukin-18 promoter polymorphism in patients with rheumatoid arthritis		600953		CDC	2006												
149755		HIV	INFECTION	INF		11	11q22.2-q22.3	IL18	111519185	111540050		Segat, L.  et al. 2006	16676179			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Brazilian		CDC GDP info	3606	Hs.83077			Immunogenetics    2006	IL-18 gene promoter polymorphism is involved in HIV-1 infection in a Brazilian pediatric population		600953		CDC	2006												
149756		atopy	IMMUNE	IMM		11	11q22.2-q22.3	IL18	111519185	111540050		Imboden, M.  et al. 2006	16759385				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Caucasian;European		CDC GDP info	3606	Hs.83077			Clin Mol Allergy    2006    4(1)    9	Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA)		600953		CDC	2006	Comprehensive characterization of genetic variation in extended cytokine candidate gene regions is now needed.											
149757		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	11	11q22.2-q22.3	IL18	111519185	111540050		Sakamoto, K.  et al. 2006	16820919			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		600953		CDC	2006			5-flurouracil cisplatin									
149758	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Boraska, V.  et al. 2006	16909454				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Croat Med J    2006    47(4)    571-578	NeuroD1 Gene and Interleukin-18 Gene Polymorphisms in Type 1 Diabetes in Dalmatian Population of Southern Croatia		600953		CDC	2006												
149760		Behcet's disease	IMMUNE	IMM	Arthritis|Behcet Syndrome|Uveitis	11	11q22.2-q22.3	IL18	111519185	111540050		Lee, Y. J.  et al. 2006	17055358			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Hum Immunol    2006    67(10)    812-818	Interleukin-18 Promoter Polymorphisms in Patients With Behcet's Disease		600953		CDC	2006												
149761	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		600953		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
149763	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease|Cognition Disorders	11	11q22.2-q22.3	IL18	111519185	111540050		Bossu, P.  et al. 2007	17299019				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			J Neurol Neurosurg Psychiatry    2007	Interleukin-18 gene polymorphisms predict risk and outcome of Alzheimer's disease		600953		CDC	2007	As IL-18 cytokine promoter gene polymorphisms have been previously described to have functional consequences on IL-18 expression, it is possible that individuals with a prevalent IL-18 gene variant have a dysregulated immune response, suggesting that IL-18 mediated immune mechanisms may play a crucial role in AD.											
149764	Y	IL-18 concentration physical functioning	IMMUNE	IMM		11	11q22.2-q22.3	IL18	111519185	111540050		Frayling, T. M.  et al. 2007	17301041				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			J Gerontol A Biol Sci Med Sci    2007    62(1)    73-8	An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people		600953		CDC	2007	IL-18 concentrations are associated with physical function in 65- to 80-year-olds. A polymorphism in the IL-18 gene alters IL-18 concentrations and is associated with an improvement in walk speed. IL-18 may play an active role in age-related functional impairment, but these findings need independent replication.											
149765			CANCER	CAN	Neoplasms|Inflammation	11	11q22.2-q22.3	IL18	111519185	111540050		Huang, H. Y.  et al. 2007	17355643				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	African American;Caucasian		CDC GDP info	3606	Hs.83077			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		600953		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149766	Y	IL-18 lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	11	11q22.2-q22.3	IL18	111519185	111540050		Xu, Q.  et al. 2007	17364073			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Ann Acad Med Singapore    2007    36(2)    91-5	Interleukin-18 Promoter Gene Polymorphisms in Chinese Patients With Systemic Lupus Erythematosus		600953		CDC	2007	The IL-18 promoter gene polymorphism SNP-607 C allele is associated with SLE and may result in the enhanced production of IL-18 protein in SLE and normal individuals.											
149767		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11q22.2-q22.3	IL18	111519185	111540050		Dong, G. P.  et al. 2007	17373930			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2		China	CDC GDP info	3606	Hs.83077			Int J Immunogenet    2007    34(2)    75-9	IL-18 gene promoter -137C/G and -607C/A polymorphisms in Chinese Han children with type 1 diabetes mellitus		600953		CDC	2007												
149769	Y	body mass coronary artery bypass graft	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus	11	11q22.2-q22.3	IL18	111519185	111540050		Thompson, S. R.  et al. 2007	17445542				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Metabolism    2007    56(5)    662-9	A common interleukin 18 haplotype is associated with higher body mass index in subjects with diabetes and coronary heart disease		600953		CDC	2007												
149770	Y	IL18 expression level	IMMUNE	IMM	Cardiovascular Diseases	11	11q22.2-q22.3	IL18	111519185	111540050		Barbaux, S.  et al. 2007	17487222				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	European		CDC GDP info	3606	Hs.83077			Eur J Hum Genet    2007	Differential haplotypic expression of the interleukin-18 gene		600953		CDC	2007	the haplotype associated with lower IL-18 circulating concentrations and a lower cardiovascular risk was consistently associated with decreased IL18 expression levels, although the exact functional mechanisms remain to be elucidated.European Journal of Human Genetics advance online publication, 9 May 2007; doi:10.1038/sj.ejhg.5201842.											
149771	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	11	11q22.2-q22.3	IL18	111519185	111540050		Kim, E.  et al. 2007	17517100				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Clin Exp Allergy    2007    37(6)    865-71	Association of the single-nucleotide polymorphism and haplotype of the interleukin 18 gene with atopic dermatitis in Koreans		600953		CDC	2007	We found that the one SNP and the haplotype T-T-C were strongly associated with the allergic type of AD, but not with the non-allergic intrinsic type. These data support the hypothesis that IL-18 up-regulates IgE production, yet more experiments will be needed to prove the in vivo involvement of Th2 cytokine.											
149772	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Hirankarn, N.  et al. 2007	17610422				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Thai		CDC GDP info	3606	Hs.83077			Tissue Antigens    2007    70(2)    160-3	Association of interleukin-18 gene polymorphism (-607A/A genotype) with susceptibility to chronic hepatitis B virus infection		600953		CDC	2007	this study proposes that A/A genotype at position -607 in IL-18 gene can be used as a new genetic maker in Thai population for predicting chronic hepatitis B development.											
149774	Y	palmoplanta pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	1	1q32.2	IL19	205038837	205082948		Kingo, K.  et al. 2007	17263806				Interleukin 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153758.1			CDC GDP info	29949	Hs.128395			Br J Dermatol    2007	Association analysis of IL19, IL20 and IL24 genes in palmoplantar pustulosis		605687		CDC	2007	This exploratory study supports the hypothesis that variations of genes of the IL-19 subfamily of cytokines influence susceptibility to PPP. However, due to the limited size of the study samples, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.											
149775	Y	longevity	AGING	AGE		1	1q32.2	IL19	205038837	205082948		Okayama, N.  et al. 2007	17522354				Interleukin 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153758.1			CDC GDP info	29949	Hs.128395			J Gerontol A Biol Sci Med Sci    2007    62(5)    507-11	Association of interleukin-19 gene polymorphisms with age		605687		CDC	2007												
149777	P		CANCER	CAN	Neoplasms	2	2q14	IL1A	113247962	113259442		Yoshimura, K.  et al. 2003	14634838				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		147760		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
149778	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	2	2q14	IL1A	113247962	113259442			16403098				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147760		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149780	N	breast cancer	CANCER	CAN		2	2q14	IL1A	113247962	113259442		Snoussi, K.  et al. 2005	16464738				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Tunisian		CDC GDP info	3552	Hs.1722			Eur Cytokine Netw    2005    16(4)    253-260	Genetic variation in pro-inflammatory cytokines (interleukin-1beta, interleukin-1alpha and interleukin-6) associated with the aggressive forms, survival, and relapse prediction of breast carcinoma.		147760		CDC	2005	The polymorphisms in the promoter region of the IL-6 gene may represent a marker for the increased risk of breast carcinoma. Genetic variations in IL-1alpha, IL-1beta and IL-6 may predict the clinical outcome of breast carcinoma.											
149781	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Sumnik, Z.  et al. 2006	16567828				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	European		CDC GDP info	3552	Hs.1722			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		147760		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
149782		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	2	2q14	IL1A	113247962	113259442		Vasakova, M.  et al. 2006	16573560				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147760		CDC	2006												
149783	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Brown, E. E.  et al. 2006	16702372				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Italian	Italy	CDC GDP info	3552	Hs.1722			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		147760		CDC	2006												
149785	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Courtin, D.  et al. 2006	16720107				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		147760		CDC	2006												
149786	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Zhou, Y. T.  et al. 2006	16733901				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    186-90	Association between interleukin-1alpha-889 C/T polymorphism and Alzheimer's disease in Chinese Han population		147760		CDC	2006	The IL-1 alpha-889 T/T and C/T genotypes are likely to be susceptible factors for the development of AD in Chinese Han population. The susceptibility genotype, female, and age > or =65 years are risk factors for AD.											
149787			NORMALVARIATION	NV		2	2q14	IL1A	113247962	113259442		Bagheri, M.  et al. 2006	16734562				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3552	Hs.1722			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147760		CDC	2006												
149789		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Hou, L.  et al. 2006	16885196				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Carcinogenesis    2006	Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer		147760		CDC	2006												
149790		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Rahman, P.  et al. 2006	16918024				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Arthritis Rheum    2006    54(7)    2321-5	Association between the interleukin-1 family gene cluster and psoriatic arthritis		147760		CDC	2006	The IL1 locus appears to be a high-priority susceptibility locus in PsA, with at least 2 independent regions that confer increased risk.											
149792		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	2	2q14	IL1A	113247962	113259442		Basturk, B.  et al. 2006	16938461				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147760		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149793	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections	2	2q14	IL1A	113247962	113259442		Tseng, F. C.  et al. 2006	16961803	IL1A-889 T	protective		Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722	protective		Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147760		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149794	Y	pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis|Silicosis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Fan, X. Y.  et al. 2006	17034724				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(9)    526-30	Relationship between polymorphism of interleukin-1 and pneumoconiosis susceptibility.		147760		CDC	2006	IL-1alpha (-889) gene polymorphism is related to pneumoconiosis. Workers with IL-1alpha (-889) allele 2 are susceptible to the pneumoconiosis. The relationship between IL-1beta (-511), IL-1Ra (+2018), IL-1Ra VNTR genes polymorphisms and pneumoconiosis are not found.											
149795		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	2	2q14	IL1A	113247962	113259442		Goddard, K. A.  et al. 2006	17179726				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		147760		CDC	2006												
149796			NORMALVARIATION	NV		2	2q14	IL1A	113247962	113259442		Kaur, G.  et al. 2007	17257312				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Indian		CDC GDP info	3552	Hs.1722			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147760		CDC	2007												
149798		bone density	METABOLIC	MET		2	2q14	IL1A	113247962	113259442		Yang, T. L.  et al. 2007	17331078				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Caucasian		CDC GDP info	3552	Hs.1722			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		147760		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
149799		lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Kobayashi, T.  et al. 2007	17335370				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		147760		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
149800			CANCER	CAN	Neoplasms|Inflammation	2	2q14	IL1A	113247962	113259442		Huang, H. Y.  et al. 2007	17355643				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	African American;Caucasian		CDC GDP info	3552	Hs.1722			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147760		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149802	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Chang, Y. T.  et al. 2007	17388919				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147760		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149803	N	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Mattuzzi, S.  et al. 2007	17444587				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		147760		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
149804		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Seno, H.  et al. 2007	17444864				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147760		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149805		periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	2	2q14	IL1A	113247962	113259442		Tervonen, T.  et al. 2007	17448042				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		147760		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
149807		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	2	2q14	IL1A	113247962	113259442		Ali, S.  et al. 2007	17477815				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		147760		CDC	2007												
149808	Y	gingival bleeding gingivitis	UNKNOWN	UNK	Gingival Hemorrhage|Gingivitis|Periodontal Pocket|Dental Calculus|Dental Plaque	2	2q14	IL1A	113247962	113259442		Muller, H. P.  et al. 2007	17492470	(IL)-1A ( -889 )	protective		Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Clin Oral Investig    2007	A combination of alleles 2 of interleukin (IL)-1A ( -889 ) and IL-1B ( +3954 ) is associated with lower gingival bleeding tendency in plaque-induced gingivitis in young adults of Arabic heritage		147760		CDC	2007				IL1A	IL1A  -889	IL1B	IL1B +3954					
149809		periodontal disease	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442			17500214				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	German		CDC GDP info	3552	Hs.1722			Vestn Ross Akad Med Nauk    2007    (3)    43-7	The allelic polymorhism of IL-1alpha and IL-beta genes in patients with chronic inflammatory periodontal diseases		147760		CDC	2007												
149810			NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Hamajima, N.  et al. 2002	12164325				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147720		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
149812	P		CANCER	CAN	Neoplasms	2	2q14	IL1B	113303807	113310827		Yoshimura, K.  et al. 2003	14634838				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		147720		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
149813	Y	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	2	2q14	IL1B	113303807	113310827			16202743				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		147720		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
149815		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	2	2q14	IL1B	113303807	113310827		Kamangar, F.  et al. 2006	16411061				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Finnish	Finland	CDC GDP info	3553	Hs.126256			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		147720		CDC	2006												
149816	N	aging	AGING	AGE		2	2q14	IL1B	113303807	113310827			16424284			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		147720		CDC	2005												
149817	N	hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic	2	2q14	IL1B	113303807	113310827			16425360				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			World J Gastroenterol    2005    11(42)    6656-61	Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3		147720		CDC	2005	There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphis		interferon ribavirin									
149819	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			16520888				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		147720		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
149820	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			16538639				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		147720		CDC	2006												
149821		celiac disease	IMMUNE	IMM	Celiac Disease	2	2q14	IL1B	113303807	113310827			16540751				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2		Italy	CDC GDP info	3553	Hs.126256			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		147720		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
149822		peripheral vascular disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Peripheral Vascular Diseases	2	2q14	IL1B	113303807	113310827			16541711				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Polish	Poland	CDC GDP info	3553	Hs.126256			Przegl Lek    2005    62(9)    830-2	Interleukin-1beta C+3953T gene polymorphism and peripheral arterial occlusive disease in Polish population		147720		CDC	2005												
149823		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	2	2q14	IL1B	113303807	113310827		Vasakova, M.  et al. 2006	16573560				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147720		CDC	2006												
149824	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Michaud, D. S.  et al. 2006	16618781				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Cancer Res    2006    66(8)    4525-30	Genetic Polymorphisms of Interleukin-1B (IL-1B), IL-6, IL-8, and IL-10 and Risk of Prostate Cancer		147720		CDC	2006	no associations were detected between the seven polymorphisms in the four cytokine genes examined in this study and prostate cancer risk.											
149825		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Gomez, L. M.  et al. 2006	16634865				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Tissue Antigens    2006    67(4)    290-6	Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis		147720		CDC	2006												
149826	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	2	2q14	IL1B	113303807	113310827		Leung, W. K.  et al. 2006	16635219				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		147720		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
149827		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Freidin, M. B.  et al. 2006	16637265				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Russian	Siberia	CDC GDP info	3553	Hs.126256			Mol Biol (Mosk)    2006    40(2)    252-62	A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians		147720		CDC	2006												
149828		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		2	2q14	IL1B	113303807	113310827		Bettens, F.  et al. 2006	16699452				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Transplantation    2006    81(9)    1261-1267	Association of TNFd and IL-10 Polymorphisms with Mortality in Unrelated Hematopoietic Stem Cell Transplantation		147720		CDC	2006	The data demonstrate a significant correlation of the TNFd and IL-10-1064 microsatellite polymorphisms with mortality after unrelated HSCT. They support the hypothesis that simple genomic tests, in addition to precise HLA matching, may contribute to determine prognosis in patients undergoing unrelated HSCT.											
149831			NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Bagheri, M.  et al. 2006	16764598				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Iranian;Asian	Iran	CDC GDP info	3553	Hs.126256			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147720		CDC	2006												
149832	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Dincic, E.  et al. 2006	16769128				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Serbian		CDC GDP info	3553	Hs.126256			J Neuroimmunol    2006	Association of polymorphisms in CTLA-4, IL-1ra and IL-1beta genes with multiple sclerosis in Serbian population		147720		CDC	2006												
149833		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	2	2q14	IL1B	113303807	113310827		Gunter, M. J.  et al. 2006	16775170				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		147720		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
149834	Y	H. pylori infection	PHARMACOGENOMIC	PHARM	Gastritis|Stomach Ulcer	2	2q14	IL1B	113303807	113310827		Sugimoto, M.  et al. 2006	16815316	IL1B -511			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Clin Pharmacol Ther    2006    80(1)    41-50	Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy		147720		CDC	2006	IL1B -511 polymorphism, but not IL1RN, TNFA, or IL10 polymorphism, is one of the determinants of triple therapy for clarithromycin-sensitive strains of H pylori in CYP2C19 homozygous EMs.		amoxycillin clarithromycin lansoprazole omeprazole rabeprazole									
149835		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q14	IL1B	113303807	113310827		Sakamoto, K.  et al. 2006	16820919			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		147720		CDC	2006			5-flurouracil cisplatin									
149837	N	C-reactive protein	IMMUNE	IMM	Obesity|Weight Loss	2	2q14	IL1B	113303807	113310827		Eklund, C.  et al. 2006	16840032				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Eur Cytokine Netw    2006    17(2)    131-5	Association of the IL6-174(G/C) polymorphism with C-reactive protein concentration after weight loss in obese men		147720		CDC	2006			weight loss									
149839		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Rahman, P.  et al. 2006	16918024				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Arthritis Rheum    2006    54(7)    2321-5	Association between the interleukin-1 family gene cluster and psoriatic arthritis		147720		CDC	2006	The IL1 locus appears to be a high-priority susceptibility locus in PsA, with at least 2 independent regions that confer increased risk.											
149840		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Licastro, F.  et al. 2006	16930778				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		147720		CDC	2006												
149841		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	2	2q14	IL1B	113303807	113310827		Basturk, B.  et al. 2006	16938461				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147720		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149842	Y	burning mouth syndrome	OTHER	OTH	Burning Mouth Syndrome|Genetic Predisposition to Disease|Depressive Disorder	2	2q14	IL1B	113303807	113310827		Guimaraes, A. L.  et al. 2006	16942951				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Brazilian		CDC GDP info	3553	Hs.126256			J Pain    2006    7(9)    654-8	Interleukin-1beta and serotonin transporter gene polymorphisms in burning mouth syndrome patients		147720		CDC	2006	the present study shows association between BMS and IL-1beta high producer genotype. PERSPECTIVE: This article shows evidence that genetic polymorphisms associated with IL-1beta high production genotype are implicated on the pathogenesis of BMS. The modulation of IL1beta production may be an interesting tool in BMS management.											
149843	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	2	2q14	IL1B	113303807	113310827		Tseng, F. C.  et al. 2006	16961803				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147720		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149844		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	2	2q14	IL1B	113303807	113310827		Bertinetto, F. E.  et al. 2006	16984283				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		147720		CDC	2006												
149846	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Ikehara, S. K.  et al. 2006	17006606	IL1B   C-to-T substitution at -31			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Hum Genet    2006	A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population		147720		CDC	2006												
149847	N	pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis|Silicosis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Fan, X. Y.  et al. 2006	17034724				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(9)    526-30	Relationship between polymorphism of interleukin-1 and pneumoconiosis susceptibility.		147720		CDC	2006	IL-1alpha (-889) gene polymorphism is related to pneumoconiosis. Workers with IL-1alpha (-889) allele 2 are susceptible to the pneumoconiosis. The relationship between IL-1beta (-511), IL-1Ra (+2018), IL-1Ra VNTR genes polymorphisms and pneumoconiosis are not found.											
149848	N	endometriosis	REPRODUCTION	REP		2	2q14	IL1B	113303807	113310827		Wen, J.  et al. 2006	17177339				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Zhejiang Da Xue Xue Bao Yi Xue Ban    2006    35(6)    653-7	Research on relationship between gene polymorphisms of interleukin-1 family and endometriosis.		147720		CDC	2006	Association between the IL-1 beta-511 promoter,IL-1 beta exon 5 polymorphisms and EMs in China is not found. However, the A2 allele of IL-1RA gene may be one of the risk factors for the Chinese women in Zhejiang Province to suffer EMs.											
149849	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		147720		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
149850			NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Kaur, G.  et al. 2007	17257312				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Indian		CDC GDP info	3553	Hs.126256			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147720		CDC	2007												
149851	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Kusuhara, K.  et al. 2007	17284226				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Int J Immunogenet    2007    34(1)    35-44	Association of IL12RB1 polymorphisms with susceptibility to and severity of tuberculosis in Japanese		147720		CDC	2007												
149853	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	2	2q14	IL1B	113303807	113310827	not significant	Vogel, U.  et al. 2007	17307204			5'promoter	Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Danes	Denmark	CDC GDP info	3553	Hs.126256			Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs1143627	147720		CDC	2007		nested within the Diet, Cancer and Health study	nonsteroidal anti-inflammatory (NSAID)								no interaction with NSAID	
149854		periodontitis	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Wu, X. L.  et al. 2006	17334075				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Hua Xi Kou Qiang Yi Xue Za Zhi    2006    24(6)    523-6	Association of the progress of chronic periodontitis with interleukin-1B-511 genetic polymorphisms		147720		CDC	2006	The progress of chronic periodontits varies individually.											
149855		lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Kobayashi, T.  et al. 2007	17335370				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		147720		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
149858		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Inflammation	2	2q14	IL1B	113303807	113310827		Lee, K. M.  et al. 2007	17361014				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Carcinogenesis    2007	Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, China		147720		CDC	2007	genetic variation in immunoregulatory genes may play an important role in the development of lung cancer in this population.		smoky coal									
149859			NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Zhang, W.  et al. 2007	17369174				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		147720		CDC	2007												
149860		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			17380888				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		147720		CDC	2007												
149861	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Chang, Y. T.  et al. 2007	17388919				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147720		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149863	Y	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Mattuzzi, S.  et al. 2007	17444587				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		147720		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
149864		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Seno, H.  et al. 2007	17444864				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147720		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149865		periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	2	2q14	IL1B	113303807	113310827		Tervonen, T.  et al. 2007	17448042				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		147720		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
149866	N	colorectal cancer	CANCER	CAN		2	2q14	IL1B	113303807	113310827		Talseth, B. A.  et al. 2007	17454884				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		147720		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
149868	N	C-reactive protein	IMMUNE	IMM		2	2q14	IL1B	113303807	113310827		Pua Kikuchi, M.  et al. 2007	17477779				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Asian Pac J Cancer Prev    2007    8(1)    87-92	Associations between Serum C-reactive Protein (CRP) Levels and Polymorphisms of CRP, Interleukin 1B, and Tumor Necrosis Factor Genes among Japanese Health Checkup Examinees		147720		CDC	2007												
149869		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	2	2q14	IL1B	113303807	113310827		Ali, S.  et al. 2007	17477815				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		147720		CDC	2007												
149870	Y	gingival bleeding gingivitis	UNKNOWN	UNK	Gingival Hemorrhage|Gingivitis|Periodontal Pocket|Dental Calculus|Dental Plaque	2	2q14	IL1B	113303807	113310827		Muller, H. P.  et al. 2007	17492470	IL-1B ( +3954 )	protective		Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Clin Oral Investig    2007	A combination of alleles 2 of interleukin (IL)-1A ( -889 ) and IL-1B ( +3954 ) is associated with lower gingival bleeding tendency in plaque-induced gingivitis in young adults of Arabic heritage		147720		CDC	2007				IL1A	IL1A  -889	IL1B	IL1B +3954					
149871		periodontal disease	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827			17500214				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	German		CDC GDP info	3553	Hs.126256			Vestn Ross Akad Med Nauk    2007    (3)    43-7	The allelic polymorhism of IL-1alpha and IL-beta genes in patients with chronic inflammatory periodontal diseases		147720		CDC	2007												
149873		infection, postoperative	INFECTION	INF	Bacterial Infections|Esophageal Neoplasms|Postoperative Complications	2	2q14	IL1B	113303807	113310827		Azim, K.  et al. 2007	17592300				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Ann Surg    2007    246(1)    122-128	Genetic Polymorphisms and the Risk of Infection Following Esophagectomy. Positive Association with TNF-alpha Gene -308 Genotype		147720		CDC	2007	BACKGROUND DATA: Genetic polymorphisms for immunoregulatory cytokines may explain individual variation in response to trauma.											
149874	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Lee, K. A.  et al. 2007	17596959				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Caucasian;Korean;Asian		CDC GDP info	3553	Hs.126256			Cytokine    2007	Interaction of polymorphisms in the Interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer		147720		CDC	2007												
149876		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q14	IL1F5	113532685	113538791		Rahman, P.  et al. 2006	16918024				Interleukin 1 family, member 5 (delta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF186094			CDC GDP info	26525	Hs.516301			Arthritis Rheum    2006    54(7)    2321-5	Association between the interleukin-1 family gene cluster and psoriatic arthritis		605507		CDC	2006	The IL1 locus appears to be a high-priority susceptibility locus in PsA, with at least 2 independent regions that confer increased risk.											
149877			NORMALVARIATION	NV		2	2q12	IL1R1	102125677	102162766		Hamajima, N.  et al. 2002	12164325				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDP info	3554	Hs.557403			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147810		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
149878		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	2	2q12	IL1R1	102125677	102162766		Vasakova, M.  et al. 2006	16573560				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDP info	3554	Hs.557403			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147810		CDC	2006												
149879			NORMALVARIATION	NV		2	2q12	IL1R1	102125677	102162766		Bagheri, M.  et al. 2006	16734562				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3554	Hs.557403			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147810		CDC	2006												
149881		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	2	2q12	IL1R1	102125677	102162766		Basturk, B.  et al. 2006	16938461				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDP info	3554	Hs.557403			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147810		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149882			NORMALVARIATION	NV		2	2q12	IL1R1	102125677	102162766		Kaur, G.  et al. 2007	17257312				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Indian		CDC GDP info	3554	Hs.557403			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147810		CDC	2007												
149884		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	2	2q12	IL1R1	102125677	102162766		Ali, S.  et al. 2007	17477815				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDP info	3554	Hs.557403			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		147810		CDC	2007												
149885	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Inflammation	2	2q12-q22	IL1R2	101974737	102011316		van Minkelen, R.  et al. 2007	17413037				Interleukin 1 receptor, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004633.3			CDC GDP info	7850	Hs.25333			Arterioscler Thromb Vasc Biol    2007	Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the Risk of Venous Thrombosis		147811		CDC	2007	We found that IL1RN-H5H5 carriership increases the risk of venous thrombosis.											
149886		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	3	3q28	IL1RAP	191714584	191851995			16519819				Interleukin 1 receptor accessory protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002182.2			CDC GDP info	3556	Hs.478673			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		602626		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
149887			NORMALVARIATION	NV		2	2q14.2	IL1RN	113573407	113608064		Hamajima, N.  et al. 2002	12164325				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147679		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
149888	P		NORMALVARIATION	NV		2	2q14.2	IL1RN	113573407	113608064		Hamajima, N.  et al. 2002	12718576				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Japanese;Chinese;Caucasian;Korean		CDC GDP info	3557	Hs.81134			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		147679		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
149889			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Lee, J. K.  et al. 2003	12768436				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Japanese;Caucasian;Korean		CDC GDP info	3557	Hs.81134			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		147679		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
149891	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	2	2q14.2	IL1RN	113573407	113608064			16403098				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147679		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149893	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064			16538639				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		147679		CDC	2006												
149894		celiac disease	IMMUNE	IMM	Celiac Disease	2	2q14.2	IL1RN	113573407	113608064			16540751				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Italy	CDC GDP info	3557	Hs.81134			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		147679		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
149895		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	2	2q14.2	IL1RN	113573407	113608064		Vasakova, M.  et al. 2006	16573560				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147679		CDC	2006												
149897		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	2	2q14.2	IL1RN	113573407	113608064		Leung, W. K.  et al. 2006	16635219				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		147679		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
149898		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Freidin, M. B.  et al. 2006	16637265				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Russian	Siberia	CDC GDP info	3557	Hs.81134			Mol Biol (Mosk)    2006    40(2)    252-62	A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians		147679		CDC	2006												
149899		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		2	2q14.2	IL1RN	113573407	113608064		Bettens, F.  et al. 2006	16699452				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Transplantation    2006    81(9)    1261-1267	Association of TNFd and IL-10 Polymorphisms with Mortality in Unrelated Hematopoietic Stem Cell Transplantation		147679		CDC	2006	The data demonstrate a significant correlation of the TNFd and IL-10-1064 microsatellite polymorphisms with mortality after unrelated HSCT. They support the hypothesis that simple genomic tests, in addition to precise HLA matching, may contribute to determine prognosis in patients undergoing unrelated HSCT.											
149900			NORMALVARIATION	NV		2	2q14.2	IL1RN	113573407	113608064		Bagheri, M.  et al. 2006	16734562				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3557	Hs.81134			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147679		CDC	2006												
149902	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Dincic, E.  et al. 2006	16769128				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Serbian		CDC GDP info	3557	Hs.81134			J Neuroimmunol    2006	Association of polymorphisms in CTLA-4, IL-1ra and IL-1beta genes with multiple sclerosis in Serbian population		147679		CDC	2006												
149903	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	2	2q14.2	IL1RN	113573407	113608064		Glas, J.  et al. 2006	16804398			promoter	Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	German		CDC GDP info	3557	Hs.81134			Inflamm Bowel Dis    2006    12(7)    606-611	Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes		147679		CDC	2006	The present study could not confirm the reported association of the -94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.											
149904	N	H. pylori infection	PHARMACOGENOMIC	PHARM	Gastritis|Stomach Ulcer	2	2q14.2	IL1RN	113573407	113608064		Sugimoto, M.  et al. 2006	16815316				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Clin Pharmacol Ther    2006    80(1)    41-50	Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy		147679		CDC	2006	IL1B -511 polymorphism, but not IL1RN, TNFA, or IL10 polymorphism, is one of the determinants of triple therapy for clarithromycin-sensitive strains of H pylori in CYP2C19 homozygous EMs.		amoxycillin clarithromycin lansoprazole omeprazole rabeprazole									
149905		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q14.2	IL1RN	113573407	113608064		Sakamoto, K.  et al. 2006	16820919			promoter	Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		147679		CDC	2006			5-flurouracil cisplatin									
149906	N	stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms|Genetic Predisposition to Disease|Genomic Instability	2	2q14.2	IL1RN	113573407	113608064		Shirai, K.  et al. 2006	16824064				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Gastroenterol Hepatol    2006    21(7)    1129-35	Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instability		147679		CDC	2006	Our study shows that MSI-H GC is associated with IL-8-251 T/T (low expression genotype) and is inversely correlated with cigarette smoking.		smoking (tobacco)									
149907		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Intracranial Arteriosclerosis|Genetic Predisposition to Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064		Markus, H. S.  et al. 2006	16873708				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Stroke    2006    37(9)    2253-9	Genetic and acquired inflammatory conditions are synergistically associated with early carotid atherosclerosis		147679		CDC	2006	were similar for femoral artery IMT.		smoking (tobacco)									
149908	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	2	2q14.2	IL1RN	113573407	113608064		Lalouschek, W.  et al. 2006	16879054				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Clin Chem Lab Med    2006    44(8)    918-23	Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events		147679		CDC	2006	In our study none of the investigated polymorphisms of the inflammatory system was associated with the risk of acute cerebrovascular events before the age of 60 years.		febrile episode									
149910		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	2	2q14.2	IL1RN	113573407	113608064		Bertinetto, F. E.  et al. 2006	16984283				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		147679		CDC	2006												
149911	N	pneumoconiosis, coal workers'	INFECTION	INF	Pneumoconiosis|Silicosis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Fan, X. Y.  et al. 2006	17034724				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(9)    526-30	Relationship between polymorphism of interleukin-1 and pneumoconiosis susceptibility.		147679		CDC	2006	IL-1alpha (-889) gene polymorphism is related to pneumoconiosis. Workers with IL-1alpha (-889) allele 2 are susceptible to the pneumoconiosis. The relationship between IL-1beta (-511), IL-1Ra (+2018), IL-1Ra VNTR genes polymorphisms and pneumoconiosis are not found.											
149913	Y	endometriosis	REPRODUCTION	REP		2	2q14.2	IL1RN	113573407	113608064		Wen, J.  et al. 2006	17177339				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Zhejiang Da Xue Xue Bao Yi Xue Ban    2006    35(6)    653-7	Research on relationship between gene polymorphisms of interleukin-1 family and endometriosis.		147679		CDC	2006	Association between the IL-1 beta-511 promoter,IL-1 beta exon 5 polymorphisms and EMs in China is not found. However, the A2 allele of IL-1RA gene may be one of the risk factors for the Chinese women in Zhejiang Province to suffer EMs.											
149914	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		147679		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
149915			NORMALVARIATION	NV		2	2q14.2	IL1RN	113573407	113608064		Kaur, G.  et al. 2007	17257312				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Indian		CDC GDP info	3557	Hs.81134			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147679		CDC	2007												
149917		lymphoma	CANCER	CAN	Lymphoma, Follicular	2	2q14.2	IL1RN	113573407	113608064		Cerhan, J. R.  et al. 2007	17327408				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Blood    2007	Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival		147679		CDC	2007												
149919	N	cytokine lung function	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Josyula, A. B.  et al. 2007	17351514				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Occup Environ Med    2007    49(3)    282-288	Cytokine Genotype and Phenotype Effects on Lung Function Decline in Firefighters		147679		CDC	2007	Cytokine genotypes were associated with the rate of FEV1 decline but did not alter concentrations of sputum cytokine.											
149920		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	2	2q14.2	IL1RN	113573407	113608064		Gidvani, V.  et al. 2007	17373677				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		147679		CDC	2007												
149921		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064			17380888				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		147679		CDC	2007												
149922	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Chang, Y. T.  et al. 2007	17388919				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147679		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
149923	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Inflammation	2	2q14.2	IL1RN	113573407	113608064		van Minkelen, R.  et al. 2007	17413037				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Arterioscler Thromb Vasc Biol    2007	Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the Risk of Venous Thrombosis		147679		CDC	2007	We found that IL1RN-H5H5 carriership increases the risk of venous thrombosis.											
149924	N	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Mattuzzi, S.  et al. 2007	17444587				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		147679		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
149925		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Seno, H.  et al. 2007	17444864				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147679		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149926	N	colorectal cancer	CANCER	CAN		2	2q14.2	IL1RN	113573407	113608064		Talseth, B. A.  et al. 2007	17454884				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		147679		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
149927	Y	ankylosing spondylitis	IMMUNE	IMM		2	2q14.2	IL1RN	113573407	113608064		Wu, Z.  et al. 2007	17459217				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Chinese;Caucasian		CDC GDP info	3557	Hs.81134			Zhonghua Yi Xue Za Zhi    2007    87(7)    433-7	A meta-analysis on interleukin-1 gene cluster polymorphism and genetic susceptibility for ankylosing spondylitis		147679		CDC	2007	The genetic susceptibility for AS may be associated with the IL-1 gene cluster polymorphism. The relevant polymorphic sites include IL-1RN 86bp VNTR in intron 2, IL-1A -889C>T (rs1800587) and IL-1F8 SNP (rs1900287). Furthermore, there is a distinct discrepancy for this association among races.											
149928		Omenn syndrome severe combined immunideficiency	IMMUNE	IMM	Severe Combined Immunodeficiency|Graft vs Host Disease	2	2q14.2	IL1RN	113573407	113608064		Haq, I. J.  et al. 2007	17572155				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Clin Immunol    2007	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes		147679		CDC	2007												
149930	Y	arthritis lymphopenia nephritis, lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Jonsen, A.  et al. 2007	17596285				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Rheumatology (Oxford)    2007	Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa genes		147679		CDC	2007												
149931	Y	palmoplanta pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	1	1q32	IL20	205105321	205109191		Kingo, K.  et al. 2007	17263806				Interleukin 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018724.3			CDC GDP info	50604	Hs.272373			Br J Dermatol    2007	Association analysis of IL19, IL20 and IL24 genes in palmoplantar pustulosis		605619		CDC	2007	This exploratory study supports the hypothesis that variations of genes of the IL-19 subfamily of cytokines influence susceptibility to PPP. However, due to the limited size of the study samples, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.											
149932		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q26-q27	IL21	123753233	123761662		Asano, K.  et al. 2006	17130531				Interleukin 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD559458		Japan	CDC GDP info	59067	Hs.567559			Ann N Y Acad Sci    2006    1079    47-50	The Gene for Human IL-21 and Genetic Susceptibility to Type 1 Diabetes in the Japanese				CDC	2006												
149933		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q26-q27	IL21	123753233	123761662		Asano, K.  et al. 2007	17462506				Interleukin 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD559458			CDC GDP info	59067	Hs.567559			Hum Immunol    2007    68(5)    384-91	Molecular scanning of interleukin-21 gene and genetic susceptibility to type 1 diabetes				CDC	2007												
149934	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	4	4q26-q27	IL21	123753233	123761662		van Heel, D. A.  et al. 2007	17558408				Interleukin 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD559458			CDC GDP info	59067	Hs.567559			Nat Genet    2007	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21				CDC	2007												
149935		longevity	AGING	AGE	Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Scola, L.  et al. 2005	16518704				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Irish	Italy	CDC GDP info	3558	Hs.89679			Biogerontology    2005    6(6)    425-429	Study of the Association with -330T/G IL-2 in a Population of Centenarians from Centre and South Italy		147680		CDC	2005												
149937		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	4	4q26-q27	IL2	123592075	123597100		Vasakova, M.  et al. 2006	16573560				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147680		CDC	2006												
149938			NORMALVARIATION	NV		4	4q26-q27	IL2	123592075	123597100		Bagheri, M.  et al. 2006	16734562				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3558	Hs.89679			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147680		CDC	2006												
149939			NORMALVARIATION	NV		4	4q26-q27	IL2	123592075	123597100		Bagheri, M.  et al. 2006	16764598				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Iranian;Asian	Iran	CDC GDP info	3558	Hs.89679			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147680		CDC	2006												
149940		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	4	4q26-q27	IL2	123592075	123597100		Lee, T. C.  et al. 2006	16824159				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		147680		CDC	2006			Epstein-Barr virus									
149941		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Hou, L.  et al. 2006	16885196				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Carcinogenesis    2006	Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer		147680		CDC	2006												
149943	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	4	4q26-q27	IL2	123592075	123597100		Tseng, F. C.  et al. 2006	16961803				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147680		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
149944		brucellosis	INFECTION	INF	Brucellosis	4	4q26-q27	IL2	123592075	123597100		Davoudi, S.  et al. 2006	16984280				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Int J Immunogenet    2006    33(5)    355-359	Th-1 cytokines gene polymorphism in human brucellosis		147680		CDC	2006												
149945		Takayasu's arteritis	CARDIOVASCULAR	CARD	Takayasu Arteritis|Takayasu Arteritis|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Saruhan-Direskeneli, G.  et al. 2006	17002904				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Hum Immunol    2006    67(9)    735-740	Interleukin (IL)-12, IL-2, and IL-6 Gene Polymorphisms in Takayasu's Arteritis from Turkey		147680		CDC	2006												
149946	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q26-q27	IL2	123592075	123597100		Wu, H. C.  et al. 2006	17115417	IL-2 gene C/T			Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2		Taiwan	CDC GDP info	3558	Hs.89679			J Clin Lab Anal    2006    20(6)    245-9	IL-2 gene C/T polymorphism is associated with prostate cancer		147680		CDC	2006												
149947		measles vaccine immunity	IMMUNE	IMM		4	4q26-q27	IL2	123592075	123597100		Dhiman, N.  et al. 2007	17152005				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		147680		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149948	N	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	4	4q26-q27	IL2	123592075	123597100		Mittal, R. D.  et al. 2007	17203290			Intron	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Immunogenetics    2007	Association of interleukin (IL)-4 intron-3 and IL-6 -174 G/C gene polymorphism with susceptibility to end-stage renal disease		147680		CDC	2007												
149950			NORMALVARIATION	NV		4	4q26-q27	IL2	123592075	123597100		Kaur, G.  et al. 2007	17257312				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	Indian		CDC GDP info	3558	Hs.89679			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147680		CDC	2007												
149951		lymphoma	CANCER	CAN	Lymphoma, Follicular	4	4q26-q27	IL2	123592075	123597100		Cerhan, J. R.  et al. 2007	17327408				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Blood    2007	Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival		147680		CDC	2007												
149952		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	4	4q26-q27	IL2	123592075	123597100		Watt, A. P.  et al. 2007	17336597			promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			J Cyst Fibros    2007	Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population		147680		CDC	2007												
149953			CANCER	CAN	Neoplasms|Inflammation	4	4q26-q27	IL2	123592075	123597100		Huang, H. Y.  et al. 2007	17355643				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	African American;Caucasian		CDC GDP info	3558	Hs.89679			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147680		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149954	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Lee, C. C.  et al. 2007	17396252				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Immunogenetics    2007	Interleukin-18 gene polymorphism, but not interleukin-2 gene polymorphism, is associated with rheumatoid arthritis		147680		CDC	2007												
149956	Y	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Mattuzzi, S.  et al. 2007	17444587				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		147680		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
149957	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		van Heel, D. A.  et al. 2007	17558408				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Nat Genet    2007	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21		147680		CDC	2007												
149958		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	16	16p11	IL21R	27321223	27369616		Guglielmi, L.  et al. 2006	16867043			promoter	Interleukin 21 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021798.2			CDC GDP info	50615	Hs.210546			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		605383		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
149960	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	12	12q13.2	IL23A	55018929	55020461		Cargill, M.  et al. 2007	17236132				Interleukin 23, alpha subunit p19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY359083			CDC GDP info	51561	Hs.98309			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes				CDC	2007												
149961	Y	Crohn's disease rheumatoid arthritis sclerosis, systemic	IMMUNE	IMM	Arthritis, Rheumatoid|Crohn Disease|Scleroderma, Systemic|Genetic Predisposition to Disease	12	12q13.2	IL23A	55018929	55020461		Farago, B.  et al. 2007	17606463				Interleukin 23, alpha subunit p19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY359083			CDC GDP info	51561	Hs.98309			Ann Rheum Dis    2007	Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis				CDC	2007	The data reported here provide direct evidence that besides Crohn\s disease some allelic variants or haplogroups of IL-23R represent independent risk factor also for rheumatoid arthritis, but not for scleroderma.											
149962	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Duerr, R. H.  et al. 2006	17068223				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Science    2006	A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene		607562		CDC	2006												
149964	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Dubinsky, M. C.  et al. 2007	17309073	IL-23R R381Q	protective		Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701	Jewish		CDC GDP info	149233	Hs.677426	protective		Inflamm Bowel Dis    2007	IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease		607562		CDC	2007	The protective IL-23R R381Q variant was particularly associated with CD in non-Jewish children. Thus, the initial whole genome association study based on ileal CD in adults has been extended to the pediatric population and beyond small bowel CD.											
149965	Y	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Van Limbergen, J. E.  et al. 2007	17337463	IL23R Arg381Gln			Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Gut    2007	IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland		607562		CDC	2007												
149967		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Libioulle, C.  et al. 2007	17447842				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			PLoS Genet    2007    3(4)    e58	Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4		607562		CDC	2007												
149968	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Tremelling, M.  et al. 2007	17484863				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Gastroenterology    2007    132(5)    1657-1664	IL23R Variation Determines Susceptibility But Not Disease Phenotype in Inflammatory Bowel Disease		607562		CDC	2007	This study shows an association between IL23R and all subphenotypes of CD with a smaller effect on UC.											
149969	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease|Inflammation	1	1p31.3	IL23R	67404756	67498238		Fraser Cummings, J. R.  et al. 2007	17508420				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Inflamm Bowel Dis    2007	Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype		607562		CDC	2007	We confirmed the findings that IL23R is a susceptibility gene for IBD with suggestive epistasis with the IBD5 locus in the CD population.											
149971	Y	psoriasis	IMMUNE	IMM		1	1p31.3	IL23R	67404756	67498238		Capon, F.  et al. 2007	17587057				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Hum Genet    2007	Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis		607562		CDC	2007												
149972	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Baldassano, R. N.  et al. 2007	17618837				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701	Jewish		CDC GDP info	149233	Hs.677426			Clin Gastroenterol Hepatol    2007	Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn's Disease		607562		CDC	2007	The OR of the IL23R variant in our pediatric study is highly comparable with that reported previously in a non-Jewish adult inflammatory bowel disease case-control cohort (OR, 0.26). As such, variants in the IL23R gene confer a similar magnitude of risk of CD to children as for their adult counterparts.											
149974	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	1	1q32	IL24	205137411	205144107		Savarrio, L.  et al. 2007	17305874				Interleukin 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006850.2			CDC GDP info	11009	Hs.58831			J Periodontal Res    2007    42(2)    152-158	Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis		604136		CDC	2007												
149975		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16		IL27	28418183	28425656		Chae, S. C.  et al. 2007	17318299				Interleukin 27	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC062422			CDC GDP info	246778	Hs.528111			J Hum Genet    2007	Identification of polymorphisms in human interleukin-27 and their association with asthma in a Korean population		608273		CDC	2007												
149977	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	10	10p15-p14	IL2RA	6093511	6144278		Do, H.  et al. 2006	16491350				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1	Caucasian		CDC GDP info	3559	Hs.231367			Immunogenetics    2006	Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort		147730		CDC	2006												
149978		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	10	10p15-p14	IL2RA	6093511	6144278		Maier, L. M.  et al. 2006	16750991				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1			CDC GDP info	3559	Hs.231367			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		147730		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
149979		measles vaccine immunity	IMMUNE	IMM		10	10p15-p14	IL2RA	6093511	6144278		Dhiman, N.  et al. 2007	17152005				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1			CDC GDP info	3559	Hs.231367			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		147730		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149980	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	10	10p15-p14	IL2RA	6093511	6144278		Brand, O. J.  et al. 2007	17371467				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1			CDC GDP info	3559	Hs.231367			Clin Endocrinol (Oxf)    2007    66(4)    508-12	Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs		147730		CDC	2007	S Association with GD, as well as that previously reported with T1D, suggests that the CD25 region is acting as a general susceptibility locus for autoimmune disease, and is consistent with a major role for the IL-2-receptor pathway in the development and function of T cells in the control of autoimmunity.											
149981	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10p15-p14	IL2RA	6093511	6144278		Qu, H. Q.  et al. 2007	17395754				Interleukin 2 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000417.1		Europe	CDC GDP info	3559	Hs.231367			Diabetes    2007    56(4)    1174-6	Toward Further Mapping of the Association Between the IL2RA Locus and Type 1 Diabetes		147730		CDC	2007												
149982		leishmaniasis	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	22	22q13	IL2RB	35851825	35875908		Bucheton, B.  et al. 2006	17108990				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2			CDC GDP info	3560	Hs.474787			Genes Immun    2006	Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis		146710		CDC	2006												
149984		measles vaccine immunity	IMMUNE	IMM		22	22q13	IL2RB	35851825	35875908		Dhiman, N.  et al. 2007	17152005				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2			CDC GDP info	3560	Hs.474787			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		146710		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149985		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q31.1	IL3	131424245	131426795		Chen, X.  et al. 2006	17179997				Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	Irish		CDC GDP info	3562	Hs.694			Mol Psychiatry    2006	Interleukin 3 and schizophrenia		147740		CDC	2006												
149987	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	5	5q31.1	IL4	132037271	132046267			16403098				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147780		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149988		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Lan, Q.  et al. 2006	16449530				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Blood    2006	Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma		147780		CDC	2006												
149989	Y	asthma IgE levels	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Kabesch, M.  et al. 2006	16461126				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Allergy Clin Immunol    2006    117(2)    269-74	IL-4/IL-13 pathway genetics strongly influence serum IgE levels and childhood asthma		147780		CDC	2006	These data indicate that only the combined analyses of genetic alterations in the IL-4/IL-13 pathway reveal its actual significance to the development of atopy and childhood asthma.											
149990	Y	Langerhans cell histiocytosis	HEMATOLOGICAL	HEM	Histiocytosis, Langerhans-Cell	5	5q31.1	IL4	132037271	132046267		Filippi, P. D.  et al. 2006	16487180				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Italian		CDC GDP info	3565	Hs.73917			Br J Haematol    2006    132(6)    784-7	Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis		147780		CDC	2006												
149992	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267			16520888				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		147780		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
149993		herpesvirus infection	INFECTION	INF	Herpesviridae Infections	5	5q31.1	IL4	132037271	132046267			16544245				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Infect Dis    2006    193(8)    1054-1062	Host Immunogenetics and Control of Human Herpesvirus-8 Infection		147780		CDC	2006	Our observations are the first to provide preliminary evidence suggesting that common variants in key host immune genes could influence the control of HHV-8 infection.											
149994	Y	fibromyalgia	OTHER	OTH	Fibromyalgia|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267			16547693				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Clin Rheumatol    2006	The association between fibromyalgia and polymorphism of monoamine oxidase A and interleukin-4		147780		CDC	2006												
149995	Y	pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	5	5q31.1	IL4	132037271	132046267		Vasakova, M.  et al. 2006	16573560				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147780		CDC	2006												
149996	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Chang, Y. T.  et al. 2006	16681592				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		147780		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
149997	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Brown, E. E.  et al. 2006	16702372				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Italian	Italy	CDC GDP info	3565	Hs.73917			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		147780		CDC	2006												
149998	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Courtin, D.  et al. 2006	16720107				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		147780		CDC	2006												
150000		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Maier, L. M.  et al. 2006	16750991				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		147780		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
150001		atopy	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Imboden, M.  et al. 2006	16759385				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Caucasian;European		CDC GDP info	3565	Hs.73917			Clin Mol Allergy    2006    4(1)    9	Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA)		147780		CDC	2006	Comprehensive characterization of genetic variation in extended cytokine candidate gene regions is now needed.											
150002			NORMALVARIATION	NV		5	5q31.1	IL4	132037271	132046267		Bagheri, M.  et al. 2006	16764598				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Iranian;Asian	Iran	CDC GDP info	3565	Hs.73917			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147780		CDC	2006												
150004		vaccine response	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Wiertsema, S. P.  et al. 2006	16914241				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Vaccine    2006	Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response		147780		CDC	2006	This study highlights the importance of host genetic factors in vaccine responses.											
150005	N	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Dashash, M.  et al. 2006	16916659				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Hum Immunol    2006    67(8)    627-33	Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms		147780		CDC	2006												
150006	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Gervaziev, Y. V.  et al. 2006	16931887			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Russian	Russia	CDC GDP info	3565	Hs.73917			Int Arch Allergy Immunol    2006    141(3)    257-264	Allelic Polymorphisms in the Interleukin-4 Promoter Regions and Their Association with Bronchial Asthma among the Russian Population		147780		CDC	2006	Our data suggest that IL-4 promoter polymorphism in the Russian population might play a role both conferring susceptibility to BA and modulating the levels of serum IL-4 and total IgE.											
150008	Y	leishmaniasis, cutaneous	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Kamali-Sarvestani, E.  et al. 2006	16950634				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Iranian		CDC GDP info	3565	Hs.73917			Cytokine    2006	Cytokine gene polymorphisms and susceptibility to cutaneous leishmaniasis in Iranian patients		147780		CDC	2006	our results suggest that functional genetic variants in the IL-4 promoter could influence the risk of developing CL while the polymorphism in the first intron of the IFN-gamma gene might influence the progression of disease towards CCL.											
150009	Y	IgE, cord blood	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Wen, H. J.  et al. 2006	17014622				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Pediatr Allergy Immunol    2006    17(7)    489-94	Association between cord blood IgE and genetic polymorphisms of interleukin-4, the beta-subunit of the high-affinity receptor for IgE, lymphotoxin-alpha, and tumor Necrosis factor-alpha		147780		CDC	2006												
150011		measles vaccine immunity	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Dhiman, N.  et al. 2007	17152005				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		147780		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
150012	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary	5	5q31.1	IL4	132037271	132046267		Vidyarani, M.  et al. 2006	17159260				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Indian		CDC GDP info	3565	Hs.73917			Indian J Med Res    2006    124(4)    403-10	Interferon gamma (IFNGamma) & interleukin-4 (IL-4) gene variants & cytokine levels in pulmonary tuberculosis		147780		CDC	2006	The study suggests a lack of functional association of Interferon gamma +874A polymorphism in tuberculosis in south Indian population. The higher frequency of IL-4 \CT\ genotype in PTB suggests a possible association of IL-4 -590T promoter polymorphism with susceptibility to tuberculosis, and the \CC\ genotype may be associated with protection.											
150013	N	subacure sclerosing panencephalitis	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis	5	5q31.1	IL4	132037271	132046267		Pipo-Deveza, J. R.  et al. 2006	17177148				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Philippines	CDC GDP info	3565	Hs.73917			Neuropediatrics    2006    37(4)    222-8	Analysis of MxA, IL-4, and IRF-1 Genes in Filipino Patients with Subacute Sclerosing Panencephalitis		147780		CDC	2006	Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.											
150014	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	5	5q31.1	IL4	132037271	132046267		Mittal, R. D.  et al. 2007	17203290			Intron	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Immunogenetics    2007	Association of interleukin (IL)-4 intron-3 and IL-6 -174 G/C gene polymorphism with susceptibility to end-stage renal disease		147780		CDC	2007												
150016	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		147780		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
150018		asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Lopez, K. I.  et al. 2007	17284225				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Mexican	Mexico	CDC GDP info	3565	Hs.73917			Int J Immunogenet    2007    34(1)    27-33	Genetic diversity of the IL-4, IL-4 receptor and IL-13 loci in mestizos in the general population and in patients with asthma from three subpopulations in Mexico		147780		CDC	2007												
150019		atopy vaccine response	IMMUNE	IMM	Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Baynam, G.  et al. 2007	17291854				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Allergy Clin Immunol    2007    119(2)    366-74	Parental smoking impairs vaccine responses in children with atopic genotypes		147780		CDC	2007	PS potentiates suppressive effects of variants in immune response genes in children.		smoke (tobacco), passive									
150020	N	asthma bronchodilator response IgE lung function	IMMUNE	IMM	Asthma	5	5q31.1	IL4	132037271	132046267		Battle, N. C.  et al. 2007	17303794				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Am J Respir Crit Care Med    2007	Ethnic Specific Gene-Gene Interaction between IL-13 and IL-4R{alpha} Among African American Asthmatics		147780		CDC	2007	Gene-gene interaction between the IL-13 and IL-4Ralpha genes may play an important role in asthma among African Americans.											
150021	Y	asthma	IMMUNE	IMM		5	5q31.1	IL4	132037271	132046267		Hosseini-Farahabadi, S.  et al. 2007	17303923			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Iranian		CDC GDP info	3565	Hs.73917			Iran J Allergy Asthma Immunol    2007    6(1)    9-14	Association between the Polymorphisms of IL-4 Gene Promoter (-590C>T), IL-13 Coding Region (R130Q) and IL-16 Gene Promoter (-295T>C) and Allergic Asthma		147780		CDC	2007												
150023			NORMALVARIATION	NV		5	5q31.1	IL4	132037271	132046267		Zhang, W.  et al. 2007	17369174				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		147780		CDC	2007												
150024	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Chang, Y. T.  et al. 2007	17388919				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		147780		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
150025		idiopathic inflammatory myopathies	IMMUNE	IMM	Myositis|Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Chinoy, H.  et al. 2007	17405833				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Caucasian		CDC GDP info	3565	Hs.73917			Ann Rheum Dis    2007	Interferon-Gamma and Interleukin-4 Gene polymorphisms in UK caucasian idiopathic inflammatory myopathy patients		147780		CDC	2007	Genetic markers in the IFN-gamma gene demonstrate significant allelic associations with the IIMs in a UK Caucasian population. The SNPs tested in this study within the region coding for IL-4 fail to show significant associations with susceptibility to IIM disease.											
150026		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Seno, H.  et al. 2007	17444864				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147780		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
150027	Y	periodontitis	IMMUNE	IMM	Gingival Hemorrhage|Periodontal Attachment Loss|Periodontitis|Periodontal Pocket	5	5q31.1	IL4	132037271	132046267		Gonzales, J. R.  et al. 2007	17451413			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J Clin Periodontol    2007	Single-nucleotide polymorphisms in the IL-4 and IL-13 promoter region in aggressive periodontitis		147780		CDC	2007	This study demonstrated an association between the IL-4 -590 T/T and IL-4 -34 T/T genotypes and AgP. Further research is necessary to prove if there is an association of these polymorphisms with AgP, and if the polymorphisms have a functional effect.											
150028	N	colorectal cancer	CANCER	CAN		5	5q31.1	IL4	132037271	132046267		Talseth, B. A.  et al. 2007	17454884				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		147780		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
150030		HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Hemophilia A|Disease Progression	5	5q31.1	IL4	132037271	132046267		Koizumi, Y.  et al. 2007	17530998				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			AIDS Res Hum Retroviruses    2007    23(5)    713-719	RANTES -28G Delays and DC-SIGN - 139C Enhances AIDS Progression in HIV Type 1-Infected Japanese Hemophiliacs		147780		CDC	2007												
150031		brain cancer IgE	CANCER	CAN	Glioma|Brain Neoplasms|Hypersensitivity|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Wiemels, J. L.  et al. 2007	17548690				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1229-35	Allergy-Related Polymorphisms Influence Glioma Status and Serum IgE Levels		147780		CDC	2007												
150032	Y	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Rasouli, M.  et al. 2007	17566759				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Cytokine    2007	Association of interferon-gamma and interleukin-4 gene polymorphisms with susceptibility to brucellosis in Iranian patients		147780		CDC	2007												
150033	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	16	16p11.2-12.1	IL4R	27232751	27283600			16403098				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147781		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
150034		asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Wjst, M.  et al. 2006	16600026				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	German		CDC GDP info	3566	Hs.513457			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		147781		CDC	2006												
150035	Y	asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Zhang, A. M.  et al. 2006	16613701	IL-4R   R576			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Zhongguo Dang Dai Er Ke Za Zhi    2006    8(2)    109-12	Association of Q576R polymorphism in the interleukin-4 receptor gene with serum IgE levels in children with asthma.		147781		CDC	2006	The mutant R576 allele of IL-4R may be one of the candidate genes for susceptibility to asthma. Allele R576 of IL-4R is related to asthma but is irrelevant to the total serum IgE level in children with asthma.											
150037	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	16	16p11.2-12.1	IL4R	27232751	27283600		Prots, I.  et al. 2006	16646030	I50V IL4R			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Arthritis Rheum    2006    54(5)    1491-1500	Association of the IL4R single-nucleotide polymorphism I50V with rapidly erosive rheumatoid arthritis		147781		CDC	2006	Our data identify the I50V IL4R SNP as a novel genetic marker in RA, showing high predictive value for early joint destruction.											
150038	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Chang, Y. T.  et al. 2006	16681592				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		147781		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
150039		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		16	16p11.2-12.1	IL4R	27232751	27283600		Bettens, F.  et al. 2006	16699452				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Transplantation    2006    81(9)    1261-1267	Association of TNFd and IL-10 Polymorphisms with Mortality in Unrelated Hematopoietic Stem Cell Transplantation		147781		CDC	2006	The data demonstrate a significant correlation of the TNFd and IL-10-1064 microsatellite polymorphisms with mortality after unrelated HSCT. They support the hypothesis that simple genomic tests, in addition to precise HLA matching, may contribute to determine prognosis in patients undergoing unrelated HSCT.											
150040			NORMALVARIATION	NV		16	16p11.2-12.1	IL4R	27232751	27283600		Bagheri, M.  et al. 2006	16734562				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3566	Hs.513457			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147781		CDC	2006												
150041		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Maier, L. M.  et al. 2006	16750991				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		147781		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
150043		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Guglielmi, L.  et al. 2006	16867043			promoter	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		147781		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
150045		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	16	16p11.2-12.1	IL4R	27232751	27283600		Basturk, B.  et al. 2006	16938461				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147781		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
150046	P	asthma atopy lung function rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Khoo, S. K.  et al. 2006	16950281				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2		Greenland|Denmark	CDC GDP info	3566	Hs.513457			J Allergy Clin Immunol    2006    118(3)    627-34	Associations of a novel IL4RA polymorphism, Ala57Thr, in Greenlander Inuit		147781		CDC	2006	The novel IL4RA Ala57Thr was common in and population specific to Greenlander Inuit, with Thr57 associated with a lower risk of atopy in those living in Denmark.											
150047	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	16	16p11.2-12.1	IL4R	27232751	27283600		Tseng, F. C.  et al. 2006	16961803				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147781		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
150049	N	asthma	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600		Tang, Y.  et al. 2006	17045041				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Zhonghua Jie He He Hu Xi Za Zhi    2006    29(7)    440-3	A study on the association between polymorphism of the interleukin-4 receptor alpha gene and bronchial asthma in a population of Han nationality.		147781		CDC	2006												
150050		asthma	IMMUNE	IMM	Hypersensitivity|Food Hypersensitivity|Genetic Predisposition to Disease|Respiratory Sounds	16	16p11.2-12.1	IL4R	27232751	27283600		Melen, E.  et al. 2006	17083349				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Clin Exp Allergy    2006    36(11)    1391-8	Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing		147781		CDC	2006	Variants in the IL4RA gene alone may not exert any major influence on susceptibility to asthma-related diseases in childhood, but in combination with other genes, such as IL9R, IL4RA may be an important gene for disease susceptibility.											
150051	N	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial	16	16p11.2-12.1	IL4R	27232751	27283600		Kim, J. J.  et al. 2006	17091279				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Korean		CDC GDP info	3566	Hs.513457			Eur Arch Otorhinolaryngol    2006	Polymorphisms in the IL-13 and IL-4 receptor alpha genes and allergic rhinitis		147781		CDC	2006												
150052	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	16	16p11.2-12.1	IL4R	27232751	27283600		Carlson, C. S.  et al. 2006	17115186				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		147781		CDC	2006												
150053		eczema food allergy IgE	IMMUNE	IMM	Liver Diseases|Dermatitis, Atopic|Food Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Negoro, T.  et al. 2006	17121586				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Pediatr Allergy Immunol    2006    17(8)    583-90	Influence of SNPs in cytokine-related genes on the severity of food allergy and atopic eczema in children		147781		CDC	2006												
150054		measles vaccine immunity	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600		Dhiman, N.  et al. 2007	17152005				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		147781		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
150055		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	16	16p11.2-12.1	IL4R	27232751	27283600		Goddard, K. A.  et al. 2006	17179726				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		147781		CDC	2006												
150056		asthma	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Bernstein, D. I.  et al. 2006	17201240				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Ann Allergy Asthma Immunol    2006    97(6)    800-6	Diisocyanate asthma and gene-environment interactions with IL4RA, CD-14, and IL-13 genes		147781		CDC	2006	Gene-environmental interactions may contribute to the pathogenesis of DA, and gene-gene interactions may modulate this relationship.		diisocyanate									
150057	N	allergy	IMMUNE	IMM	Respiratory Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Kim, H. A.  et al. 2006	17209513				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J UOEH    2006    28(4)    369-79	No potential role of genetic polymorphisms for IL-4, IL-13 and IL-4 receptor in respiratory allergy		147781		CDC	2006												
150059		asthma	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Lopez, K. I.  et al. 2007	17284225				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Mexican	Mexico	CDC GDP info	3566	Hs.513457			Int J Immunogenet    2007    34(1)    27-33	Genetic diversity of the IL-4, IL-4 receptor and IL-13 loci in mestizos in the general population and in patients with asthma from three subpopulations in Mexico		147781		CDC	2007												
150060		atopy vaccine response	IMMUNE	IMM	Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600		Baynam, G.  et al. 2007	17291854				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J Allergy Clin Immunol    2007    119(2)    366-74	Parental smoking impairs vaccine responses in children with atopic genotypes		147781		CDC	2007	PS potentiates suppressive effects of variants in immune response genes in children.		smoke (tobacco), passive									
150062		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Brown, E. E.  et al. 2007	17315188				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	European		CDC GDP info	3566	Hs.513457			Int J Cancer    2007	Common variants in genes that mediate immunity and risk of multiple myeloma		147781		CDC	2007												
150063	Y	Graves' disease IgE	IMMUNE	IMM	Graves Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Yabiku, K.  et al. 2007	17362266				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Clin Exp Immunol    2007	Polymorphisms of interleukin (IL)-4 receptor alpha and signal transducer and activator of transcription-6 (Stat6) are associated with increased IL-4Ralpha-Stat6 signalling in lymphocytes and elevated serum IgE in patients with Graves' disease		147781		CDC	2007												
150065		hepatitis C	INFECTION	INF	Hepatitis C	16	16p11.2-12.1	IL4R	27232751	27283600			17523428			promoter	Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Caucasian		CDC GDP info	3566	Hs.513457			Zh Mikrobiol Epidemiol Immunobiol    2007    1    43-6	Alleles distribution of polymorphic promoter region C-590T in interleukin-4 genes and Q-576r and Ile-50Val regions in IL-4 receptor gene IL-4RA in patients with HCV-infection		147781		CDC	2007												
150066		brain cancer IgE	CANCER	CAN	Glioma|Brain Neoplasms|Hypersensitivity|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Wiemels, J. L.  et al. 2007	17548690				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1229-35	Allergy-Related Polymorphisms Influence Glioma Status and Serum IgE Levels		147781		CDC	2007												
150068		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	5	5q31.1	IL5	131905034	131920427		Lan, Q.  et al. 2006	16449530				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			CDC GDP info	3567	Hs.2247			Blood    2006	Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma		147850		CDC	2006												
150069	Y	asthma atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	5	5q31.1	IL5	131905034	131920427		Kabesch, M.  et al. 2007	17362254	IL-5 C-746T			Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2	German	Germany	CDC GDP info	3567	Hs.2247			Allergy    2007    62(4)    423-8	Polymorphisms in eosinophil pathway genes, asthma and atopy		147850		CDC	2007	IL-5 C-746T influenced atopic outcomes and showed evidence for gene by gene interaction. No significant associations were found with all other tested polymorphisms in the eosinophil regulation pathway after correction for multiple testing.			IL5	IL-5  -746T	GM-CSF	enhancer polymorphism 3085 bp 3' of GM-CSF					
150070	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL5	131905034	131920427		Namkung, J. H.  et al. 2007	17620072				Interleukin 5 (colony-stimulating factor, eosinophil)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000879.2			CDC GDP info	3567	Hs.2247			Allergy    2007    62(8)    934-42	IL-5 and IL-5 receptor alpha polymorphisms are associated with atopic dermatitis in Koreans		147850		CDC	2007	We found that the rs2522411SNP and the haplotype T-A in the IL-5 gene and the serum IL-5 levels were strongly associated with the allergic type of AD, but not with the nonallergic type of AD. The association of the rs6771148SNP and the haplotype T-C-T in the IL5RA gene with the blood eosinophil counts and the serum ECP levels indicates that the IL5RA gene ha											
150071		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	3	3p26-p24	IL5RA	3086420	3127031		Brassat, D.  et al. 2006	16625214				Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2			CDC GDP info	3568	Hs.68876			Genes Immun    2006	Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans		147851		CDC	2006												
150073	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	3	3p26-p24	IL5RA	3086420	3127031		Namkung, J. H.  et al. 2007	17620072				Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2			CDC GDP info	3568	Hs.68876			Allergy    2007    62(8)    934-42	IL-5 and IL-5 receptor alpha polymorphisms are associated with atopic dermatitis in Koreans		147851		CDC	2007	We found that the rs2522411SNP and the haplotype T-A in the IL-5 gene and the serum IL-5 levels were strongly associated with the allergic type of AD, but not with the nonallergic type of AD. The association of the rs6771148SNP and the haplotype T-C-T in the IL5RA gene with the blood eosinophil counts and the serum ECP levels indicates that the IL5RA gene ha											
150074			NORMALVARIATION	NV		7	7p21	IL6	22733322	22738141		Hamajima, N.  et al. 2002	12164325				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		147620		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150075		bone density	METABOLIC	MET		7	7p21	IL6	22733322	22738141		Liu, J. M.  et al. 2003	12757654				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Zhonghua Fu Chan Ke Za Zhi    2003    38(1)    24-7	Combined effect of interleukin-6 and estrogen receptor gene polymorphisms on bone mass in postmenopausal women		147620		CDC	2003	The introduction of ER gene Px haplotype in the analysis of IL-6 gene might identify individuals with a reduced bone mass more precisely.											
150077	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	7	7p21	IL6	22733322	22738141			16403098				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147620		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
150078		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	7	7p21	IL6	22733322	22738141		Kamangar, F.  et al. 2006	16411061				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Finnish	Finland	CDC GDP info	3569	Hs.512234			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		147620		CDC	2006												
150079	N	aging	AGING	AGE		7	7p21	IL6	22733322	22738141			16424284			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		147620		CDC	2005												
150080		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Daher, S.  et al. 2006	16433832				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Am J Reprod Immunol    2006    55(2)    130-5	Cytokine genotyping in preeclampsia		147620		CDC	2006	Our study suggests that PE is associated with IL-10-(1082) polymorphism but not with TNF-(308) polymorphism. On the basis of meta-analysis, we confirm the need for more studies for the evaluation of cytokine genotype in disease.											
150081		sepsis	INFECTION	INF	Sepsis	7	7p21	IL6	22733322	22738141		Sipahi, T.  et al. 2006	16444434				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		147620		CDC	2006												
150082		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Lan, Q.  et al. 2006	16449530				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Blood    2006	Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma		147620		CDC	2006												
150083	Y	breast cancer	CANCER	CAN		7	7p21	IL6	22733322	22738141		Snoussi, K.  et al. 2005	16464738				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Tunisian		CDC GDP info	3569	Hs.512234			Eur Cytokine Netw    2005    16(4)    253-260	Genetic variation in pro-inflammatory cytokines (interleukin-1beta, interleukin-1alpha and interleukin-6) associated with the aggressive forms, survival, and relapse prediction of breast carcinoma.		147620		CDC	2005	The polymorphisms in the promoter region of the IL-6 gene may represent a marker for the increased risk of breast carcinoma. Genetic variations in IL-1alpha, IL-1beta and IL-6 may predict the clinical outcome of breast carcinoma.											
150085		fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Mannila, M. N.  et al. 2006	16525568				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Thromb Haemost    2006    95(3)    420-7	Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction		147620		CDC	2006												
150086	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141			16538639				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		147620		CDC	2006												
150087	N	anemia C-reactive protein	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic|Anemia	7	7p21	IL6	22733322	22738141			16538877				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Perit Dial Int    2006    26(1)    64-8	The effect of proinflammatory cytokine gene and angiotensin-converting enzyme polymorphisms on erythropoietin requirements in patients on continuous ambulatory peritoneal dialysis		147620		CDC	2006	ACE insertion/deletion polymorphism may determine rHuEPO responsiveness in CAPD patients and should be considered in relative rHuEPO resistance.		erythropoietin									
150088		celiac disease	IMMUNE	IMM	Celiac Disease	7	7p21	IL6	22733322	22738141			16540751				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1		Italy	CDC GDP info	3569	Hs.512234			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		147620		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
150089		herpesvirus infection	INFECTION	INF	Herpesviridae Infections	7	7p21	IL6	22733322	22738141			16544245				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Infect Dis    2006    193(8)    1054-1062	Host Immunogenetics and Control of Human Herpesvirus-8 Infection		147620		CDC	2006	Our observations are the first to provide preliminary evidence suggesting that common variants in key host immune genes could influence the control of HHV-8 infection.											
150090	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Sumnik, Z.  et al. 2006	16567828				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	European		CDC GDP info	3569	Hs.512234			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		147620		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
150092	Y	sepsis	INFECTION	INF	Sepsis	7	7p21	IL6	22733322	22738141		Baier, R. J.  et al. 2006	16611358				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Caucasian		CDC GDP info	3569	Hs.512234			BMC Med    2006    4(1)    10	IL-10, IL-6 and CD14 polymorphisms and sepsis outcome in ventilated Very Low Birth Weight infants		147620		CDC	2006	The IL-6 -174 G/C, IL-10 -1082 G/A and CD14 -260 C/T SNPs may alter risk for BSI in ventilated VLBW infants.											
150093	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Michaud, D. S.  et al. 2006	16618781				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Cancer Res    2006    66(8)    4525-30	Genetic Polymorphisms of Interleukin-1B (IL-1B), IL-6, IL-8, and IL-10 and Risk of Prostate Cancer		147620		CDC	2006	no associations were detected between the seven polymorphisms in the four cytokine genes examined in this study and prostate cancer risk.											
150094	Y	atherosclerosis, coronary lipids lipoprotein	CARDIOVASCULAR	CARD		7	7p21	IL6	22733322	22738141		Wei, Y. S.  et al. 2006	16647016				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Zhongguo Wei Zhong Bing Ji Jiu Yi Xue    2006    18(4)    233-6	Relationship between interleukin-6 gene polymorphism and coronary heart disease and its effect on plasma lipid levels.		147620		CDC	2006	IL-6 gene -572 C/G polymorphism is associated with CHD, and G allele is an important genetic marker. IL-6 gene polymorphism may affect CHD through elevation of plasma lipid and lipoprotein levels.											
150095	N	proliferative vitreoretinopathy rhegmatogenous retinal detachment	VISION	VIS	Retinal Detachment|Vitreoretinopathy, Proliferative|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Sanabria Ruiz-Colmenares, M. R.  et al. 2006	16704689				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Acta Ophthalmol Scand    2006    84(3)    309-13	Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy		147620		CDC	2006	An association between the TGF-beta1 genetic profile and the development of PVR was detected in this study. Further studies are necessary to confirm this finding and to establish its clinical relevance.											
150096		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Pawlik, A.  et al. 2005	16708557				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Pol Arch Med Wewn    2005    114(3)    843-7	The influence of IL-6 polymorphism on efficacy of treatment of rheumatoid arthritis patients with methotrexate and prednisone		147620		CDC	2005			methotrexate prednisone									
150098		heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	7	7p21	IL6	22733322	22738141		Tambur, A. R.  et al. 2006	16730575				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		147620		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
150099		preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Menon, R.  et al. 2006	16731080				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	European		CDC GDP info	3569	Hs.512234			Am J Obstet Gynecol    2006    194(6)    1616-24	Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women		147620		CDC	2006	This is the first report to document a multilocus interaction in sPTB that predicts 65.											
150101	Y	stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Intracranial Hemorrhages|Atherosclerosis|Thrombosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Yamada, Y.  et al. 2006	16741147				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234	atherothrombotic cerebral infarction and intracerebral hemorrhage		Arterioscler Thromb Vasc Biol    2006	Genetic Risk for Ischemic and Hemorrhagic Stroke		147620		CDC	2006	IL6 genotype may be useful in assessing the genetic risk for atherothrombotic cerebral infarction and intracerebral hemorrhage, and genotypes for UCP3, TNF, and PKD1-like may be similarly beneficial in assessment of the risk for subarachnoid hemorrhage. Validation of our findings will require additional studies with independent subject panels.											
150102		atopy	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Imboden, M.  et al. 2006	16759385				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Caucasian;European		CDC GDP info	3569	Hs.512234			Clin Mol Allergy    2006    4(1)    9	Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA)		147620		CDC	2006	Comprehensive characterization of genetic variation in extended cytokine candidate gene regions is now needed.											
150104			NORMALVARIATION	NV		7	7p21	IL6	22733322	22738141		Bagheri, M.  et al. 2006	16764598				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Iranian;Asian	Iran	CDC GDP info	3569	Hs.512234			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147620		CDC	2006												
150105	Y	myocardial infarct	CARDIOVASCULAR	CARD		7	7p21	IL6	22733322	22738141		Fu, H.  et al. 2006	16767656				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    245-9	Study on linkage between polymorphism of interleukin 6 gene -572C/G and susceptibility to myocardial infarction.		147620		CDC	2006	IL6 gene -572G allele may be a genetic susceptibility factor to MI attack of Chinese Hans population, and related to the high expression of IL6.											
150106		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	7	7p21	IL6	22733322	22738141		Gunter, M. J.  et al. 2006	16775170				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		147620		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
150108		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Reperfusion Injury|Myocardial Infarction|Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome|Postoperative Complications	7	7p21	IL6	22733322	22738141		Podgoreanu, M. V.  et al. 2006	16820586				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Circulation    2006    114(1 Suppl)    I275-81	Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery		147620		CDC	2006	Functional genetic variants in cytokine and leukocyte-endothelial interaction pathways are independently associated with severity of myonecrosis after cardiac surgery. This may aid in preoperative identification of high-risk cardiac surgical patients and development of novel cardioprotective strategies.											
150109		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	7	7p21	IL6	22733322	22738141		Sakamoto, K.  et al. 2006	16820919			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		147620		CDC	2006			5-flurouracil cisplatin									
150110		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	7	7p21	IL6	22733322	22738141		Lee, T. C.  et al. 2006	16824159				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		147620		CDC	2006			Epstein-Barr virus									
150111	Y	C-reactive protein	IMMUNE	IMM	Obesity|Weight Loss	7	7p21	IL6	22733322	22738141		Eklund, C.  et al. 2006	16840032				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Eur Cytokine Netw    2006    17(2)    131-5	Association of the IL6-174(G/C) polymorphism with C-reactive protein concentration after weight loss in obese men		147620		CDC	2006			weight loss									
150113		morbidity mortality	IMMUNE	IMM	Inflammation	7	7p21	IL6	22733322	22738141		Ortlepp, J. R.  et al. 2006	16858645				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Inflammation    2006	Relationship of Five Inflammatory Gene Polymorphisms with Morbidity and Mortality in 533 Patients Admitted to an ICU		147620		CDC	2006	Genotyping of the investigated polymorphism for risk stratification of patients admitted to ICU does not seem to be appropriated.											
150114		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Intracranial Arteriosclerosis|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141		Markus, H. S.  et al. 2006	16873708				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Stroke    2006    37(9)    2253-9	Genetic and acquired inflammatory conditions are synergistically associated with early carotid atherosclerosis		147620		CDC	2006	were similar for femoral artery IMT.		smoking (tobacco)									
150115	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	7	7p21	IL6	22733322	22738141		Lalouschek, W.  et al. 2006	16879054				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Clin Chem Lab Med    2006    44(8)    918-23	Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events		147620		CDC	2006	In our study none of the investigated polymorphisms of the inflammatory system was associated with the risk of acute cerebrovascular events before the age of 60 years.		febrile episode									
150116	Y	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Dashash, M.  et al. 2006	16916659				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Hum Immunol    2006    67(8)    627-33	Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms		147620		CDC	2006												
150118		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Inflammation	7	7p21	IL6	22733322	22738141		Theodoropoulos, G.  et al. 2006	16937502				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Greek		CDC GDP info	3569	Hs.512234			World J Gastroenterol    2006    12(31)    5037-43	Relation between common polymorphisms in genes related to inflammatory response and colorectal cancer		147620		CDC	2006	The association between common SNPs in immunologic response-related genes and CRC is reported in the present study. Apart from shedding light on the mechanisms of malignancy initiation and progression, SNPs may improve appropriate screening for sub-populations at risk.											
150119		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	7	7p21	IL6	22733322	22738141		Basturk, B.  et al. 2006	16938461				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147620		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
150121	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	7	7p21	IL6	22733322	22738141		Tseng, F. C.  et al. 2006	16961803				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		147620		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
150122	N	tuberculosis	INFECTION	INF	Tuberculosis	7	7p21	IL6	22733322	22738141		Oral, H. B.  et al. 2006	16962335				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Turkish		CDC GDP info	3569	Hs.512234			Cytokine    2006	Interleukin-10 (IL-10) gene polymorphism as a potential host susceptibility factor in tuberculosis		147620		CDC	2006												
150123		Takayasu's arteritis	CARDIOVASCULAR	CARD	Takayasu Arteritis|Takayasu Arteritis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Saruhan-Direskeneli, G.  et al. 2006	17002904				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Hum Immunol    2006    67(9)    735-740	Interleukin (IL)-12, IL-2, and IL-6 Gene Polymorphisms in Takayasu's Arteritis from Turkey		147620		CDC	2006												
150124		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	7	7p21	IL6	22733322	22738141		Yamaguchi, S.  et al. 2006	17016617				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		147620		CDC	2006												
150127	N	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Snyder, L. D.  et al. 2006	17097497				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Heart Lung Transplant    2006    25(11)    1330-5	Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant		147620		CDC	2006	Polymorphisms of TNF-alpha, IFN-gamma, TGF-beta1, IL-10 and IL-6 do not appear to influence the onset of BOS or graft survival in recipients.											
150128		inflammatory markers	IMMUNE	IMM		7	7p21	IL6	22733322	22738141		Jang, Y.  et al. 2006	17113059				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Korean		CDC GDP info	3569	Hs.512234			Clin Chim Acta    2006	Effect of the 252A>G polymorphism of the lymphotoxin-alpha gene on inflammatory markers of response to cigarette smoking in Korean healthy men		147620		CDC	2006	Our results suggest that the LTA 252A>G polymorphism may modulate the inflammatory effects and oxidative stress of smoking. The detrimental effect of smoking is most clearly seen in men with G/G, suggesting a genotype-specific interaction with smoking.		smoking (tobacco)									
150129	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	7	7p21	IL6	22733322	22738141		Pieroni, F.  et al. 2006	17113632				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		147620		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
150130	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	7	7p21	IL6	22733322	22738141		Carlson, C. S.  et al. 2006	17115186				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		147620		CDC	2006												
150131	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7p21	IL6	22733322	22738141		Huang, C. M.  et al. 2006	17115422				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Clin Lab Anal    2006    20(6)    255-9	Lack of association of interleukin-6 and interleukin-8 gene polymorphisms in Chinese patients with systemic lupus erythematosus		147620		CDC	2006												
150132		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	7	7p21	IL6	22733322	22738141		Humphries, S. E.  et al. 2006	17130180				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		147620		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
150135	Y	preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	7	7p21	IL6	22733322	22738141		Speer, E. M.  et al. 2006	17145371				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Hum Immunol    2006    67(11)    915-23	Role of single nucleotide polymorphisms of cytokine genes in spontaneous preterm delivery		147620		CDC	2006												
150136	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p21	IL6	22733322	22738141		Willer, C. J.  et al. 2007	17192490				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		147620		CDC	2007												
150137		heart transplant	CARDIOVASCULAR	CARD		7	7p21	IL6	22733322	22738141		Girnita, D. M.  et al. 2006	17198275				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Hispanic Caucasian		CDC GDP info	3569	Hs.512234			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		147620		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
150138	Y	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	7	7p21	IL6	22733322	22738141		Mittal, R. D.  et al. 2007	17203290			Intron	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Immunogenetics    2007	Association of interleukin (IL)-4 intron-3 and IL-6 -174 G/C gene polymorphism with susceptibility to end-stage renal disease		147620		CDC	2007												
150140			NORMALVARIATION	NV		7	7p21	IL6	22733322	22738141		Kaur, G.  et al. 2007	17257312				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Indian		CDC GDP info	3569	Hs.512234			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147620		CDC	2007												
150141	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	7	7p21	IL6	22733322	22738141	not significant	Vogel, U.  et al. 2007	17307204			5'promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	nested within the prospective 'Diet, Cancer and Heatlh' study	Denmark	CDC GDP info	3569	Hs.512234			Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs1800795	147620		CDC	2007	No association of the polymorphism to risk of basal cell carcinoma		nonsteroidal anti-inflammatory (NSAID)									
150143		C-reactive protein cardiovascular disease risk factors insulin	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Insulin Resistance|Genetic Predisposition to Disease|Body Weight	7	7p21	IL6	22733322	22738141		Paik, J. K.  et al. 2006	17335789				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Korean	Korea	CDC GDP info	3569	Hs.512234			Clin Chim Acta    2006	Additive effect of interleukin-6 and C-reactive protein (CRP) single nucleotide polymorphism on serum CRP concentration and other cardiovascular risk factors		147620		CDC	2006	The present data showed that serum CRP levels and other CVD risk factors appeared more influenced by IL-6-572C>G rather than CRP SNPs (-717G>A, 1444C>T, and 2147A>G), however CRP levels and insulin resistance may be additively affected by IL-6-572 and CRP SNP, particularly when subjects with G/G genotype at IL-6-572 have allele variant at CRP SNPs.											
150144		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	7	7p21	IL6	22733322	22738141		Watt, A. P.  et al. 2007	17336597			promoter	Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Cyst Fibros    2007	Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population		147620		CDC	2007												
150145		IL6 preterm delivery	REPRODUCTION	REP	Premature Birth	7	7p21	IL6	22733322	22738141		Velez, D. R.  et al. 2007	17346257				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	European		CDC GDP info	3569	Hs.512234			Ann Hum Genet    2007	Ethnic differences in interleukin 6 (IL-6) and IL6 receptor genes in spontaneous preterm birth and effects on amniotic fluid protein levels		147620		CDC	2007												
150146			CANCER	CAN	Neoplasms|Inflammation	7	7p21	IL6	22733322	22738141		Huang, H. Y.  et al. 2007	17355643				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	African American;Caucasian		CDC GDP info	3569	Hs.512234			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147620		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
150148			NORMALVARIATION	NV		7	7p21	IL6	22733322	22738141		Zhang, W.  et al. 2007	17369174				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		147620		CDC	2007												
150149		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	7	7p21	IL6	22733322	22738141		Gidvani, V.  et al. 2007	17373677				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		147620		CDC	2007												
150150		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141			17380888				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		147620		CDC	2007												
150151		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Amirzargar, A.  et al. 2007	17439892				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Mult Scler    2007    13(2)    253-5	Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients		147620		CDC	2007												
150153	Y	periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	7	7p21	IL6	22733322	22738141		Tervonen, T.  et al. 2007	17448042				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		147620		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
150154		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Nibali, L.  et al. 2007	17452560				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Dent Res    2007    86(5)    416-20	Gene polymorphisms and the prevalence of key periodontal pathogens		147620		CDC	2007			microbiota									
150156		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Virtanen, I. M.  et al. 2007	17471097				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		147620		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
150157	N	osteosarcoma	CANCER	CAN	Osteosarcoma|Recurrence	7	7p21	IL6	22733322	22738141		Oliveira, I. D.  et al. 2007	17483704				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Pediatr Hematol Oncol    2007    29(5)    293-297	TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma		147620		CDC	2007												
150158		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	7	7p21	IL6	22733322	22738141		Kumar, R.  et al. 2007	17498265				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Tissue Antigens    2007    69(6)    557-67	Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India		147620		CDC	2007												
150159		periodontal disease	IMMUNE	IMM	Abscess|Periapical Periodontitis|Tooth Diseases|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		de Sa, A. R.  et al. 2007	17511783				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Int Endod J    2007	Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses		147620		CDC	2007	The present study suggests that genetic factors are associated with susceptibility to develop symptomatic dental abscesses.											
150160		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Budak, F.  et al. 2007	17544674				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Turkish		CDC GDP info	3569	Hs.512234			Cytokine    2007	IL-10 and IL-6 gene polymorphisms as potential host susceptibility factors in Brucellosis		147620		CDC	2007												
150161	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	7	7p21	IL6	22733322	22738141		Ribeiro, C. S.  et al. 2007	17612762				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Mem Inst Oswaldo Cruz    2007    102(4)    435-40	Association of cytokine genetic polymorphism with hepatites B infection evolution in adult patients		147620		CDC	2007												
150162		preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature|Genetic Predisposition to Disease	1	1q21	IL6R	152644292	152706812		Menon, R.  et al. 2006	16731080				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2	European		CDC GDP info	3570	Hs.591492			Am J Obstet Gynecol    2006    194(6)    1616-24	Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women		147880		CDC	2006	This is the first report to document a multilocus interaction in sPTB that predicts 65.											
150163	Y	body mass metabolic syndrome	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease	1	1q21	IL6R	152644292	152706812		Esteve, E.  et al. 2006	16817825	L-6R   Asp358Ala and CA-repeat			Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2	Spanish;Caucasian; Indian;Pima Indians		CDC GDP info	3570	Hs.591492			Clin Endocrinol (Oxf)    2006    65(1)    88-91	Polymorphisms in the interleukin-6 receptor gene are associated with body mass index and with characteristics of the metabolic syndrome		147880		CDC	2006	The Asp358Ala and CA-repeat polymorphisms in the IL-6R gene are associated with obesity and characteristics of the metabolic syndrome in our population of Mediterranean subjects.											
150164		periodontitis	IMMUNE	IMM	Periodontitis	1	1q21	IL6R	152644292	152706812		Galicia, J. C.  et al. 2006	16899024				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2			CDC GDP info	3570	Hs.591492			J Clin Periodontol    2006	Interleukin-6 receptor gene polymorphisms and periodontitis in a non-smoking Japanese population		147880		CDC	2006	The IL6R+48892 A/C polymorphism could act as a risk factor for periodontitis; however, further association and biological studies are needed.											
150166		IL6 preterm delivery	REPRODUCTION	REP	Premature Birth	1	1q21	IL6R	152644292	152706812		Velez, D. R.  et al. 2007	17346257				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2	European		CDC GDP info	3570	Hs.591492			Ann Hum Genet    2007	Ethnic differences in interleukin 6 (IL-6) and IL6 receptor genes in spontaneous preterm birth and effects on amniotic fluid protein levels		147880		CDC	2007												
150167		obesity	METABOLIC	MET	Obesity	1	1q21	IL6R	152644292	152706812		Song, Y.  et al. 2007	17570254				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2			CDC GDP info	3570	Hs.591492			Metabolism    2007    56(7)    925-30	The interaction between the interleukin 6 receptor gene genotype and dietary energy intake on abdominal obesity in Japanese men		147880		CDC	2007			diet									
150168		stem cell transplantation	HEMATOLOGICAL	HEM	Recurrence	5	5p13	IL7R	35892747	35912680		Shamim, Z.  et al. 2006	16435014				Interleukin 7 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002185.2			CDC GDP info	3575	Hs.591742			Bone Marrow Transplant    2006	Genetic polymorphisms in the genes encoding human interleukin-7 receptor-alpha		146661		CDC	2006												
150169	Y	allergy	IMMUNE	IMM	Respiratory Hypersensitivity|Genetic Predisposition to Disease	5	5p13	IL7R	35892747	35912680		Shamim, Z.  et al. 2007	17504502				Interleukin 7 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002185.2			CDC GDP info	3575	Hs.591742			Int J Immunogenet    2007    34(3)    149-51	Association between genetic polymorphisms in the human interleukin-7 receptor alpha-chain and inhalation allergy		146661		CDC	2007												
150170			NORMALVARIATION	NV		4	4q13-q21	IL8	74825138	74828297		Hamajima, N.  et al. 2002	12164325				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		146930		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150171	Y	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	4	4q13-q21	IL8	74825138	74828297			16202743				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		146930		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
150173		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297		Kamangar, F.  et al. 2006	16411061				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Finnish	Finland	CDC GDP info	3576	Hs.624			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		146930		CDC	2006												
150174	Y	lung function	OTHER	OTH	Respiratory Tract Diseases	4	4q13-q21	IL8	74825138	74828297			16429233				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Hum Genet    2006	Association of IL8, CXCR2 and TNF-alpha polymorphisms and airway disease		146930		CDC	2006												
150175	Y	asthma respiratory syncytial virus	IMMUNE	IMM		4	4q13-q21	IL8	74825138	74828297		Puthothu, B.  et al. 2006	16503988				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Clin Mol Allergy    2006    4(1)    2	Impact of IL8and IL8-Receptor alphapolymorphisms on the genetics of bronchial asthma and severe RSV infections		146930		CDC	2006	We conclude from our data that IL8 might play a role in the genetic predisposition to asthma and that these effects are different or even opposite to the effects on severe RSV diseases.											
150177	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Michaud, D. S.  et al. 2006	16618781				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Cancer Res    2006    66(8)    4525-30	Genetic Polymorphisms of Interleukin-1B (IL-1B), IL-6, IL-8, and IL-10 and Risk of Prostate Cancer		146930		CDC	2006	no associations were detected between the seven polymorphisms in the four cytokine genes examined in this study and prostate cancer risk.											
150178		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	4	4q13-q21	IL8	74825138	74828297		Leung, W. K.  et al. 2006	16635219				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		146930		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
150179		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Yang, H. P.  et al. 2006	16679868				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Finland	CDC GDP info	3576	Hs.624			Eur J Cancer Prev    2006    15(3)    249-253	Genetic variation in interleukin 8 and its receptor genes and its influence on the risk and prognosis of prostate cancer among Finnish men in a large cancer prevention trial		146930		CDC	2006												
150180		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms	4	4q13-q21	IL8	74825138	74828297		Snoussi, K.  et al. 2006	16698420				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Tunisian	Tunisia	CDC GDP info	3576	Hs.624			Hum Immunol    2006    67(1-2)    13-21	Genetic Variation in IL-8 Associated with Increased Risk and Poor Prognosis of Breast Carcinoma		146930		CDC	2006												
150182	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease|Inflammation	4	4q13-q21	IL8	74825138	74828297		Sanchez, E.  et al. 2006	16719905				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			BMC Med Genet    2006    7(1)    48	Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus		146930		CDC	2006	These results suggest that the tested functional variation of RANTES, IL-8, IL-1alpha, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.											
150183	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Courtin, D.  et al. 2006	16720107				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		146930		CDC	2006												
150184		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	4	4q13-q21	IL8	74825138	74828297		Gunter, M. J.  et al. 2006	16775170				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		146930		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
150186		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Kamali-Sarvestani, E.  et al. 2006	16793206				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Iran	CDC GDP info	3576	Hs.624			Neurosci Lett    2006	IL-8 (-251 A/T) and CXCR2 (+1208 C/T) gene polymorphisms and risk of multiple sclerosis in Iranian patients		146930		CDC	2006												
150187	N	stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms|Genetic Predisposition to Disease|Genomic Instability	4	4q13-q21	IL8	74825138	74828297		Shirai, K.  et al. 2006	16824064				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Gastroenterol Hepatol    2006    21(7)    1129-35	Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instability		146930		CDC	2006	Our study shows that MSI-H GC is associated with IL-8-251 T/T (low expression genotype) and is inversely correlated with cigarette smoking.		smoking (tobacco)									
150189		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297		Theodoropoulos, G.  et al. 2006	16937502				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Greek		CDC GDP info	3576	Hs.624			World J Gastroenterol    2006    12(31)    5037-43	Relation between common polymorphisms in genes related to inflammatory response and colorectal cancer		146930		CDC	2006	The association between common SNPs in immunologic response-related genes and CRC is reported in the present study. Apart from shedding light on the mechanisms of malignancy initiation and progression, SNPs may improve appropriate screening for sub-populations at risk.											
150191	P		NORMALVARIATION	NV		4	4q13-q21	IL8	74825138	74828297		Fujihara, J.  et al. 2006	17020755				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Japanese;Gambia;Korean;Turkish	Japan	CDC GDP info	3576	Hs.624			Clin Chim Acta    2006	Variation of interleukin 8 -251 A>T polymorphism in worldwide populations and intra-ethnic differences in Japanese populations		146930		CDC	2006	The present study is the first to demonstrate the Japan population inter-prefecture differences in IL8 -251 A>T polymorphism as well as a certain genetic heterogeneity in the worldwide distribution of IL8 -251 A>T polymorphism. The distribution results may help define the true significance of IL8 -251 A>T polymorphism as a marker for smoking behavior in popu											
150192	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	4	4q13-q21	IL8	74825138	74828297		Huang, C. M.  et al. 2006	17115422				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Clin Lab Anal    2006    20(6)    255-9	Lack of association of interleukin-6 and interleukin-8 gene polymorphisms in Chinese patients with systemic lupus erythematosus		146930		CDC	2006												
150193		pancreatitis, acute	OTHER	OTH	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Hofner, P.  et al. 2006	17124436				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2		Hungary	CDC GDP info	3576	Hs.624			Pancreatology    2006    6(6)    542-548	Polymorphism in the IL-8 Gene, but Not in the TLR4 Gene, Increases the Severity of Acute Pancreatitis		146930		CDC	2006	Determination of the frequency of IL-8 polymorphism in acute pancreatitis may be informative and may provide further evidence concerning the role of IL-8 in the severe form of this disease. The possible role of TLR4 polymorphism in the outcome of severe acute pancreatitis requires further investigations in a larger series of patients.											
150194	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Vairaktaris, E.  et al. 2006	17174061	IL8  (-251 A/T)			Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	German;Greek		CDC GDP info	3576	Hs.624			Eur J Surg Oncol    2006	The interleukin-8 (-251A/T) polymorphism is associated with increased risk for oral squamous cell carcinoma		146930		CDC	2006	In light to known observations of elevated plasma levels of IL-8 in several types of cancer including oral squamous cell carcinoma, the findings of this study suggest that the mutant allele of the (-251 A/T) polymorphism may be a major contributing genetic factor to risk for oral cancer.											
150196	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		146930		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
150197	Y	pyelonephritis vesicoureteral reflux	INFECTION	INF	Urinary Tract Infections|Pyelonephritis|Vesico-Ureteral Reflux|Acute Disease|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Artifoni, L.  et al. 2007	17296422				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Urol    2007    177(3)    1102-6	Interleukin-8 and CXCR1 receptor functional polymorphisms and susceptibility to acute pyelonephritis		146930		CDC	2007	These data suggest that the gene for the proinflammatory chemokine interleukin-8 is involved in susceptibility to acute pyelonephritis during upper urinary tract infection in children with or without vesicoureteral reflux.											
150198	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	4	4q13-q21	IL8	74825138	74828297	not significant	Vogel, U.  et al. 2007	17307204	IL8 T-251A 		5'promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	317 basal cell carcinoma cases and 317 controls matched on age and gender	Denmark	CDC GDP info	3576	Hs.624			Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs4073	146930		CDC	2007	No association of the polymorphism to risk of basal cell carcinoma	nested within the Diet, Cancer and Health study	nonsteroidal anti-inflammatory (NSAID)								no interaction with NSAID	
150199	Y	duodenal ulcer gastritis	INFECTION	INF	Helicobacter Infections|Gastritis|Duodenal Ulcer|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Hofner, P.  et al. 2007	17309748				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Helicobacter    2007    12(2)    124-31	Genetic Polymorphisms of NOD1 and IL-8, but not Polymorphisms of TLR4 Genes, Are Associated with Helicobacter pylori-Induced Duodenal Ulcer and Gastritis		146930		CDC	2007	E266K CARD4/NOD1, but not the TLR4 gene polymorphism increases the risk of peptic ulceration in H. pylori-positive patients. The -251 IL-8 polymorphism was significantly associated with either gastritis or DU in H. pylori-infected subjects. Host factors including intracellular pathogen receptors and IL-8 production play an important role in H. pylori-induced											
150200		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn	4	4q13-q21	IL8	74825138	74828297		Capasso, M.  et al. 2007	17314689				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Italian		CDC GDP info	3576	Hs.624			Pediatr Res    2007    61(3)    313-317	Cytokine Gene Polymorphisms in Italian Preterm Infants		146930		CDC	2007												
150202		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	4	4q13-q21	IL8	74825138	74828297		Watt, A. P.  et al. 2007	17336597			promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Cyst Fibros    2007	Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population		146930		CDC	2007												
150203	N	cytokine lung function	IMMUNE	IMM		4	4q13-q21	IL8	74825138	74828297		Josyula, A. B.  et al. 2007	17351514				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Occup Environ Med    2007    49(3)    282-288	Cytokine Genotype and Phenotype Effects on Lung Function Decline in Firefighters		146930		CDC	2007	Cytokine genotypes were associated with the rate of FEV1 decline but did not alter concentrations of sputum cytokine.											
150204			CANCER	CAN	Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297		Huang, H. Y.  et al. 2007	17355643				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	African American;Caucasian		CDC GDP info	3576	Hs.624			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		146930		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
150206		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297			17380888				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		146930		CDC	2007												
150207	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Chang, Y. T.  et al. 2007	17388919				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		146930		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
150208	Y	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic	4	4q13-q21	IL8	74825138	74828297		Farkas, G. = Jr et al. 2007	17400536	TT genotype of +869 TGF-beta1			Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Eur Cytokine Netw    2007    18(1)    26-32	Relevance of transforming growth factor-beta1, interleukin-8, and tumor necrosis factor-alpha polymorphisms in patients with chronic pancreatitis		146930		CDC	2007	correlations of the TGF-beta1 and IL-8 single nucleotide polymorphisms (SNPs) with chronic pancreatitis underline the importance of these cytokines in the pathomechanism of the disease. Moreover, it seems that the TT genotype of +869 TGF-beta1 might be a risk factor for the development of a severe form of chronic pancreatitis, and could serve as a prognostic sign for any future surgical intervention or even repeat surgery. Further studies on a larger group of patients, in addition to a follow-up study, are necessary to confirm this preliminary observation.											
150209		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Seno, H.  et al. 2007	17444864				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		146930		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
150210	Y	respiratory syncytial virus	INFECTION	INF		4	4q13-q21	IL8	74825138	74828297		Lu, A. Z.  et al. 2007	17456336				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Zhonghua Er Ke Za Zhi    2007    45(2)    100-4	Association of interleukin 8 single nucleotide polymorphisms with the susceptibility to respiratory syncytial virus infection.		146930		CDC	2007	These findings support that haplotype of TC composed of IL-8-251T and 781C is associated with the susceptibility to RSV, namely, some RSV predisposing genes are located in the gene fragment including TC haplotype or linked tightly with this gene fragment.											
150211	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Garza Gonzalez, E.  et al. 2007	17462092				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Mexican	Mexico	CDC GDP info	3576	Hs.624			BMC Cancer    2007    7(1)    70	Assessment of the toll-like receptor 4 Asp299gly, thr399Ile and interleukin-8 -251 polymorphisms in the risk for the development of distal gastric cancer		146930		CDC	2007	This study showed that the IL8-251*A allele could be related to the development of distal gastric cancer in this Mexican population.											
150212	Y	acute respiratory distress syndrome IL* production	IMMUNE	IMM	Respiratory Distress Syndrome, Adult|Multiple Trauma	4	4q13-q21	IL8	74825138	74828297		Hildebrand, F.  et al. 2007	17498967				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Cytokine    2007	Association of IL-8-251A/T polymorphism with incidence of Acute Respiratory Distress Syndrome (ARDS) and IL-8 synthesis after multiple trauma		146930		CDC	2007	This data reaffirms a central role of IL-8 in the pathogenesis of ARDS. Furthermore, it points towards a genetic predisposition for posttraumatic IL-8 synthesis which might also be associated with the development of posttraumatic ARDS.											
150214		diarrhea, Clostridium difficile-associated	INFECTION	INF	Enterocolitis, Pseudomembranous|Diarrhea	4	4q13-q21	IL8	74825138	74828297		Jiang, Z. D.  et al. 2007	17618838				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Clin Gastroenterol Hepatol    2007	Association of Interleukin-8 Polymorphism and Immunoglobulin G Anti-Toxin A in Patients With Clostridium difficile-Associated Diarrhea		146930		CDC	2007	This study provided evidence that host susceptibly to C.											
150215		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	2	2q35	IL8RA	218735812	218739961		Kamangar, F.  et al. 2006	16411061				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Finnish	Finland	CDC GDP info	3577	Hs.194778			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		146929		CDC	2006												
150216		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Yang, H. P.  et al. 2006	16679868				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2		Finland	CDC GDP info	3577	Hs.194778			Eur J Cancer Prev    2006    15(3)    249-253	Genetic variation in interleukin 8 and its receptor genes and its influence on the risk and prognosis of prostate cancer among Finnish men in a large cancer prevention trial		146929		CDC	2006												
150217	Y	hematology indices	IMMUNE	IMM	Asthma	2	2q35	IL8RA	218735812	218739961		Cheong, H. S.  et al. 2006	16897191				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Korean		CDC GDP info	3577	Hs.194778			J Hum Genet    2006	Polymorphisms in interleukin 8 and its receptors (IL8, IL8RA and IL8RB) and association of common IL8 receptor variants with peripheral blood eosinophil counts		146929		CDC	2006												
150218		uveitis	VISION	VIS	Uveitis, Anterior|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Yeo, T. K.  et al. 2006	16950632				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Caucasian		CDC GDP info	3577	Hs.194778			Cytokine    2006	Chemokine gene polymorphisms in idiopathic anterior uveitis		146929		CDC	2006	This study describes an association between acute anterior uveitis and MCP-1 63555 polymorphisms where the T allele may be a protective marker against the disease.											
150220	N	pyelonephritis vesicoureteral reflux	INFECTION	INF	Urinary Tract Infections|Pyelonephritis|Vesico-Ureteral Reflux|Acute Disease|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Artifoni, L.  et al. 2007	17296422				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2			CDC GDP info	3577	Hs.194778			J Urol    2007    177(3)    1102-6	Interleukin-8 and CXCR1 receptor functional polymorphisms and susceptibility to acute pyelonephritis		146929		CDC	2007	These data suggest that the gene for the proinflammatory chemokine interleukin-8 is involved in susceptibility to acute pyelonephritis during upper urinary tract infection in children with or without vesicoureteral reflux.											
150222		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Inflammation	2	2q35	IL8RA	218735812	218739961		Lee, K. M.  et al. 2007	17361014				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2			CDC GDP info	3577	Hs.194778			Carcinogenesis    2007	Polymorphisms in immunoregulatory genes, smoky coal exposure and lung cancer risk in Xuan Wei, China		146929		CDC	2007	genetic variation in immunoregulatory genes may play an important role in the development of lung cancer in this population.		smoky coal									
150223	N	cirrhosis hepatitis B, chronic	INFECTION	INF	Hepatitis B|Disease Progression	2	2q35	IL8RA	218735812	218739961		Cheong, J. Y.  et al. 2007	17596666				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2	Korean		CDC GDP info	3577	Hs.194778			J Korean Med Sci    2007    22(3)    529-35	RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection		146929		CDC	2007												
150224			NORMALVARIATION	NV		2	2q35	IL8RB	218698242	218710220		Hamajima, N.  et al. 2002	12164325				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2			CDC GDP info	3579	Hs.846			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		146928		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150225		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	2	2q35	IL8RB	218698242	218710220		Kamangar, F.  et al. 2006	16411061				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Finnish	Finland	CDC GDP info	3579	Hs.846			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		146928		CDC	2006												
150226		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Yang, H. P.  et al. 2006	16679868				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2		Finland	CDC GDP info	3579	Hs.846			Eur J Cancer Prev    2006    15(3)    249-253	Genetic variation in interleukin 8 and its receptor genes and its influence on the risk and prognosis of prostate cancer among Finnish men in a large cancer prevention trial		146928		CDC	2006												
150228		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Kamali-Sarvestani, E.  et al. 2006	16793206				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2		Iran	CDC GDP info	3579	Hs.846			Neurosci Lett    2006	IL-8 (-251 A/T) and CXCR2 (+1208 C/T) gene polymorphisms and risk of multiple sclerosis in Iranian patients		146928		CDC	2006												
150229	Y	hematology indices	IMMUNE	IMM	Asthma	2	2q35	IL8RB	218698242	218710220		Cheong, H. S.  et al. 2006	16897191				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Korean		CDC GDP info	3579	Hs.846			J Hum Genet    2006	Polymorphisms in interleukin 8 and its receptors (IL8, IL8RA and IL8RB) and association of common IL8 receptor variants with peripheral blood eosinophil counts		146928		CDC	2006												
150230		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	2	2q35	IL8RB	218698242	218710220		Vasilescu, A.  et al. 2007	17360650				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2			CDC GDP info	3579	Hs.846			Proc Natl Acad Sci U S A    2007    104(9)    3354-9	A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients		146928		CDC	2007												
150232		asthma	IMMUNE	IMM	Hypersensitivity|Food Hypersensitivity|Genetic Predisposition to Disease|Respiratory Sounds	5	5q31.1	IL9	135255833	135259415		Melen, E.  et al. 2006	17083349				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			CDC GDP info	3578	Hs.960			Clin Exp Allergy    2006    36(11)    1391-8	Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing		146931		CDC	2006	Variants in the IL4RA gene alone may not exert any major influence on susceptibility to asthma-related diseases in childhood, but in combination with other genes, such as IL9R, IL4RA may be an important gene for disease susceptibility.											
150233		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	17	17q21.31	IMP5	41278052	41280107		Park, J. W.  et al. 2006	16415175				Intramembrane protease 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175882.1			CDC GDP info	162540	Hs.144491			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		608284		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
150234		seizures, febrile	NEUROLOGICAL	NEUR	Seizures, Febrile|Genetic Predisposition to Disease	18	18p11.2	IMPA2	11971056	12020876		Blair, M. A.  et al. 2007	17388992				Inositol(myo)-1(or 4)-monophosphatase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014214.1	Japanese;Caucasian		CDC GDP info	3613	Hs.367992			Eur J Neurol    2007    14(4)    424-7	Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients		605922		CDC	2007												
150235	P		NORMALVARIATION	NV		3	3p21.2	IMPDH2	49036765	49041879		Wang, J.  et al. 2007	17496727				IMP (inosine monophosphate) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM554073			CDC GDP info	3615	Hs.654400			Pharmacogenet Genomics    2007    17(4)    283-290	A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity		146691		CDC	2007	IMPDH2 has low genetic diversity, but the nonsynonymous variant L263F has a significant impact on inosine 5\-monophosphate dehydrogenase activity. This novel functional variant may be one of the factors contributing to the inter-individual difference of baseline inosine 5\-monophosphate dehydrogenase activity as well as drug efficacy and adverse events in transplant patients.											
150236		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	2	2q32	INPP1	190916679	190944552		Michelon, L.  et al. 2006	16787706				Inositol polyphosphate-1-phosphatase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002194.2			CDC GDP info	3628	Hs.32309			Neurosci Lett    2006	Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder		147263		CDC	2006			lithium									
150238		hypertension	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Metabolic Syndrome X	11	11q23	INPPL1	71613472	71627797		Braga Marcano, A. C.  et al. 2007	17557929				Inositol polyphosphate phosphatase-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=Y14385			CDC GDP info	3636	Hs.523875			J Med Genet    2007	Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension		600829		CDC	2007												
150239		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		11	11p15.5	INS	2106922	2139015		Comings, D. E.  et al. 2000	11140838				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDP info	3630	Hs.89832			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		176730		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
150240	N	birth weight diabetes, type 1 head circumference at birth	METABOLIC	MET	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease|Birth Weight	11	11p15.5	INS	2106922	2139015		Stene, L. C.  et al. 2006	16691379				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Norwegian	Norway	CDC GDP info	3630	Hs.89832			Diabetologia    2006	The relation between size at birth and risk of type 1 diabetes is not influenced by adjustment for the insulin gene (-23HphI) polymorphism or HLA-DQ genotype		176730		CDC	2006	 In contrast to suggestions from previous indirect studies, direct adjustment for INS and HLA genotypes did not lead to a stronger relation between birthweight and the risk of type 1 diabetes.		birth weight									
150242		diabetes, type 1 thyroid disease, autoimmune	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	11	11p15.5	INS	2106922	2139015		Ikegami, H.  et al. 2006	17130532				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Japanese;Caucasian;Asian	Japan	CDC GDP info	3630	Hs.89832			Ann N Y Acad Sci    2006    1079    51-59	Genetics of Type 1 Diabetes		176730		CDC	2006												
150243		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Chelala, C.  et al. 2007	17259401				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDP info	3630	Hs.89832			Diabetes    2007    56(2)    522-6	PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits		176730		CDC	2007												
150245		breast cancer	CANCER	CAN	Breast Neoplasms|Insulin Resistance|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Wang, Y.  et al. 2007	17348446				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDP info	3630	Hs.89832			Anticancer Res    2007    27(1B)    589-93	Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer		176730		CDC	2007	Our results suggest that polymorphisms in these energy regulation candidate genes may be associated with risk of breast cancer, but replication in larger studies is needed.											
150246		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Insulin Resistance	11	11p15.5	INS	2106922	2139015		Gunter, M. J.  et al. 2007	17416760				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Caucasian		CDC GDP info	3630	Hs.89832			Cancer Epidemiol Biomarkers Prev    2007    16(4)    703-8	Insulin resistance-related genes and advanced left-sided colorectal adenoma		176730		CDC	2007	we found limited evidence for a role of gene variants of the insulin signaling pathway and prevalence of advanced colorectal adenoma.		body mass glycemic load									
150247	Y	fetal growth	DEVELOPMENTAL	DEV	Birth Weight	11	11p15.5	INS	2106922	2139015		Osada, H.  et al. 2007	17464100				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDP info	3630	Hs.89832			Tohoku J Exp Med    2007    212(1)    27-34	Genetic Variations within the Insulin Gene Region are Associated with Accelerated Fetal Growth		176730		CDC	2007	the INS-VNTR class III allele might accelerate fetal growth in a parent-specific manner.											
150249		obesity	METABOLIC	MET	Obesity	2	2q14.1	INSIG2	118562519	118584067		Hall, D. H.  et al. 2006	17137505			promoter	Insulin induced gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647805	Caucasian		CDC GDP info	51141	Hs.7089			BMC Med Genet    2006    7(1)    83	INSIG-2 promoter polymorphism and obesity-related phenotypes				CDC	2006	There was no association between genotype at rs7566605 and obesity-related phenotypes in this British Caucasian population. These families were in general moderately overweight, few members being severely obese. Our result indicates that this polymorphism has little if any effect on BMI within the normal to moderately overweight range. The effects of this po											
150250	Y	body mass	METABOLIC	MET		2	2q14.1	INSIG2	118562519	118584067		Lyon, H. N. et al.  et al. 2007	17465681				Insulin induced gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647805			CDC GDP info	51141	Hs.7089			PLoS Genet    2007    3(4)    e61	The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts				CDC	2007												
150251	N	obesity triglycerides	METABOLIC	MET		2	2q14.1	INSIG2	118562519	118584067		Smith, A. J.  et al. 2007	17471297				Insulin induced gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647805	Caucasian;Indian		CDC GDP info	51141	Hs.7089			Int J Obes (Lond)    2007	INSIG2 gene polymorphism is not associated with obesity in Caucasian, Afro-Caribbean and Indian subjects				CDC	2007												
150252	N	obesity	METABOLIC	MET	Obesity	2	2q14.1	INSIG2	118562519	118584067		Kumar, J.  et al. 2007	17489846				Insulin induced gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647805	Indian		CDC GDP info	51141	Hs.7089			Clin Genet    2007    71(5)    415-8	The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population				CDC	2007												
150254		cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	19	19p13.2-p12	INSL3	17788321	17793320		Yamazawa, K.  et al. 2006	17028442				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDP info	3640	Hs.37062			Horm Res    2006    67(2)    73-76	Mutation and Polymorphism Analyses of INSL3 and LGR8/GREAT in 62 Japanese Patients with Cryptorchidism		146738		CDC	2006	The results, in conjunction with the previous data, suggest that mutations of INSL3 and LGR8/GREAT remain rare, and that the Thr/Thr genotype of Ala60Thr polymorphism in INSL3 may constitute a susceptibility factor for the development of CO.											
150255	Y	cryptorchidism	DEVELOPMENTAL	DEV	Hypospadias|Cryptorchidism|Abnormalities, Multiple|Genetic Predisposition to Disease	19	19p13.2-p12	INSL3	17788321	17793320		El Houate, B.  et al. 2007	17437853				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDP info	3640	Hs.37062			J Urol    2007    177(5)    1947-1951	Novel Mutations Involving the INSL3 Gene Associated With Cryptorchidism		146738		CDC	2007	Mutations involving the insulin-like factor 3 gene may contribute to other anomalies of male genital development, such as micropenis.											
150256		infertility, male	REPRODUCTION	REP	Infertility, Male	19	19p13.2-p12	INSL3	17788321	17793320		Yun, Y. J.  et al. 2007	17559848				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDP info	3640	Hs.37062			Fertil Steril    2007	Preliminary analysis of the G178A polymorphism of insulin-like factor 3 in male infertility		146738		CDC	2007												
150257	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Lee, E. J.  et al. 2006	16806206				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Korean		CDC GDP info	3643	Hs.591381			Fertil Steril    2006	Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population		147670		CDC	2006												
150259		breast cancer	CANCER	CAN	Breast Neoplasms|Insulin Resistance|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Wang, Y.  et al. 2007	17348446				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDP info	3643	Hs.591381			Anticancer Res    2007    27(1B)    589-93	Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer		147670		CDC	2007	Our results suggest that polymorphisms in these energy regulation candidate genes may be associated with risk of breast cancer, but replication in larger studies is needed.											
150260		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Insulin Resistance	19	19p13.3-p13.2	INSR	7063265	7245011		Gunter, M. J.  et al. 2007	17416760				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1	Caucasian		CDC GDP info	3643	Hs.591381			Cancer Epidemiol Biomarkers Prev    2007    16(4)    703-8	Insulin resistance-related genes and advanced left-sided colorectal adenoma		147670		CDC	2007	we found limited evidence for a role of gene variants of the insulin signaling pathway and prevalence of advanced colorectal adenoma.		body mass glycemic load									
150261		diabetes, type 2	METABOLIC	MET		1	1q21-q23	INSRR	155077288	155095290		Ma, L.  et al. 2007	17261673				Insulin receptor-related receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014215.1	Indian;Pima Indians		CDC GDP info	3645	Hs.248138			Diabetes    2007	Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians		147671		CDC	2007												
150263		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	X	Xq28	IRAK1	152929150	152938536			16537705				Interleukin-1 receptor-associated kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001569.3		Sweden	CDC GDP info	3654	Hs.522819			Cancer Epidemiol Biomarkers Prev    2006    15(3)    480-5	Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk		300283		CDC	2006												
150264	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	X	Xq28	IRAK1	152929150	152938536		Kozlowski, P.  et al. 2006	16907704				Interleukin-1 receptor-associated kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001569.3			CDC GDP info	3654	Hs.522819			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		300283		CDC	2006												
150265	Y	C-reactive protein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hypertension|Diabetes Mellitus, Type 2	X	Xq28	IRAK1	152929150	152938536		Lakoski, S. G.  et al. 2007	17382928				Interleukin-1 receptor-associated kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001569.3	Caucasian		CDC GDP info	3654	Hs.522819			Exp Mol Pathol    2007	The association between innate immunity gene (IRAK1) and C-reactive protein in the Diabetes Heart Study		300283		CDC	2007	Variation in the IRAK1 gene is associated with CRP concentration in Caucasian women in DHS.											
150267	N	pouchitis	OTHER	OTH	Pouchitis|Chronic Disease|Recurrence	12	12q14.3	IRAK3	64869283	64928652		Lammers, K.  et al. 2005	16437636				Interleukin-1 receptor-associated kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057800	Caucasian;Italian		CDC GDP info	11213	Hs.369265			World J Gastroenterol    2005    11(46)    7323-9	Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis		604459		CDC	2005	There is no evidence that the SNPs predispose to the need for IPAA surgery.											
150268		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q14.3	IRAK3	64869283	64928652		Balaci, L. et al.  et al. 2007	17503328				Interleukin-1 receptor-associated kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057800	Italian;Sardinian	Italy	CDC GDP info	11213	Hs.369265			Am J Hum Genet    2007    80(6)    1103-14	IRAK-M Is Involved in the Pathogenesis of Early-Onset Persistent Asthma		604459		CDC	2007												
150270		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	12	12q12	IRAK4	42439046	42468166			16537705				Interleukin-1 receptor-associated kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016123.1		Sweden	CDC GDP info	51135	Hs.138499			Cancer Epidemiol Biomarkers Prev    2006    15(3)    480-5	Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk		606883		CDC	2006												
150271	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	12	12q12	IRAK4	42439046	42468166		Kozlowski, P.  et al. 2006	16907704				Interleukin-1 receptor-associated kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016123.1			CDC GDP info	51135	Hs.138499			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		606883		CDC	2006												
150272	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	15	15q25.1	IREB2	76517680	76578522		Coon, K. D.  et al. 2006	16914832				Iron-responsive element binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004136.1			CDC GDP info	3658	Hs.436031			J Alzheimers Dis    2006    9(3)    225-33	Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease		147582		CDC	2006												
150274		hepatitis B	INFECTION	INF	Hepatitis B	5	5q31.1	IRF1	131846683	131859158		Cheong, J. Y.  et al. 2006	16944293				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Korean		CDC GDP info	3659	Hs.436061			Biochem Genet    2006    44(5-6)    246-55	Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection		147575		CDC	2006												
150275	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Wang, T. N.  et al. 2006	16961714				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDP info	3659	Hs.436061			Clin Exp Allergy    2006    36(9)    1147-52	Association of interferon-gamma and interferon regulatory factor 1 polymorphisms with asthma in a family-based association study in Taiwan		147575		CDC	2006	These findings provide strong evidence of which IFN-gamma CA repeat and IRF-1 GT repeat polymorphisms influence the risk of asthma for children in Taiwan.											
150276	N	subacure sclerosing panencephalitis	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis	5	5q31.1	IRF1	131846683	131859158		Pipo-Deveza, J. R.  et al. 2006	17177148				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1		Philippines	CDC GDP info	3659	Hs.436061			Neuropediatrics    2006    37(4)    222-8	Analysis of MxA, IL-4, and IRF-1 Genes in Filipino Patients with Subacute Sclerosing Panencephalitis		147575		CDC	2006	Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.											
150278		juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Fife, M. S.  et al. 2007	17328074				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDP info	3659	Hs.436061			Arthritis Rheum    2007    56(3)    972-976	No evidence for genetic association of interferon regulatory factor 1 in juvenile idiopathic arthritis		147575		CDC	2007	This replication study used a much larger patient cohort to examine the association of IRF1 in JIA.											
150279			CANCER	CAN	Breast Neoplasms	5	5q31.1	IRF1	131846683	131859158		Bouker, K. B.  et al. 2007	17498560				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	African American;European		CDC GDP info	3659	Hs.436061			Cancer Genet Cytogenet    2007    175(1)    61-4	The A4396G polymorphism in interferon regulatory factor 1 is frequently expressed in breast cancer cell lines		147575		CDC	2007												
150280	Y	HIV	INFECTION	INF	HIV Infections|HIV Seropositivity|Genetic Predisposition to Disease	6	6p25-p23	IRF4	336759	356193		Ball, T. B.  et al. 2007	17502719				Interferon regulatory factor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U52682			CDC GDP info	3662	Hs.401013			AIDS    2007    21(9)    1091-1101	Polymorphisms in IRF-1 associated with resistance to HIV-1 infection in highly exposed uninfected Kenyan sex workers		601900		CDC	2007	Polymorphisms in the IRF-1 gene are associated with resistance to infection by HIV-1 and a lowered level of IRF-1 protein expression. This study adds IRF-1, a transcriptional immunoregulatory gene, to the list of genetic correlates of altered susceptibility to HIV-1. This is the first report suggesting that a viral transcriptional regulator might contribute											
150281	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q32	IRF5	128365229	128377324		Graham, R. R.  et al. 2006	16642019				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3			CDC GDP info	3663	Hs.521181			Nat Genet    2006    38(5)    550-555	A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus		607218		CDC	2006												
150283	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q32	IRF5	128365229	128377324		Demirci, F. Y.  et al. 2006	17166181				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3			CDC GDP info	3663	Hs.521181			Ann Hum Genet    2006	Association of a Common Interferon Regulatory Factor 5 (IRF5) Variant with Increased Risk of Systemic Lupus Erythematosus (SLE)		607218		CDC	2006												
150284		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7q32	IRF5	128365229	128377324		Shin, H. D.  et al. 2007	17389033				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3	Korean;Asian		CDC GDP info	3663	Hs.521181			Arthritis Res Ther    2007    9(2)    R32	Replication of genetic effects of interferon regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population		607218		CDC	2007												
150285	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q32	IRF5	128365229	128377324		Kozyrev, S. V.  et al. 2007	17393452				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3	Spanish;German		CDC GDP info	3663	Hs.521181			Arthritis Rheum    2007    56(4)    1234-1241	Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus		607218		CDC	2007	None of the functional variants investigated in this study is strongly associated with SLE, with the exception of the exon 1B donor splice site, and its functional importance appears to be small.											
150287		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus|Diabetes Mellitus, Type 1|Inflammation	7	7q32	IRF5	128365229	128377324		Qu, H. Q.  et al. 2007	17557928				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3			CDC GDP info	3663	Hs.521181			J Med Genet    2007	The IRF5 polymorphism in type 1 diabetes		607218		CDC	2007												
150288	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	7	7q32	IRF5	128365229	128377324		Ferreiro-Neira, I.  et al. 2007	17568788				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3	European		CDC GDP info	3663	Hs.521181			Genes Immun    2007	Opposed independent effects and epistasis in the complex association of IRF5 to SLE		607218		CDC	2007	our results help to understand the role of the IRF5 locus in SLE susceptibility by clearly separating protection from susceptibility as caused by independent polymorphisms.											
150290		tooth agenesis	DEVELOPMENTAL	DEV	Anodontia|Genetic Predisposition to Disease	1	1q32.3-q41	IRF6	208027884	208046102		Vieira, A. R.  et al. 2007	17318851				Interferon regulatory factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006147.2			CDC GDP info	3664	Hs.591415			Am J Med Genet A    2007    143(6)    538-45	Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis		607199		CDC	2007												
150291		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1q32.3-q41	IRF6	208027884	208046102		Park, J. W.  et al. 2007	17438386				Interferon regulatory factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006147.2	European;Korean;Singapore;Asian		CDC GDP info	3664	Hs.591415			Genet Med    2007    9(4)    219-227	Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations		607199		CDC	2007	The high-risk genotypes and diplotypes identified here may provide a better understanding of the etiological role of this gene in oral clefts and potential options for genetic counseling.											
150293		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	16	16q24.1	IRF8	84490274	84513712		Hwang, Y.  et al. 2006	16886895				Interferon regulatory factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002163			CDC GDP info	3394	Hs.137427			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C				CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
150294		colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Samowitz, W. S.  et al. 2006	16448675				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Mutat Res    2006	Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer		147545		CDC	2006												
150295		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	2	2q36	IRS1	227308181	227372719		Slattery, M. L.  et al. 2006	16489531				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		Minnesota|California|Utah	CDC GDP info	3667	Hs.471508			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		147545		CDC	2006			ibuprofen-type drugs									
150297	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Glucose Metabolism Disorders|Diabetes Mellitus|Glucose Intolerance|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Lin, T. C.  et al. 2006	16603055				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Caucasian	Taiwan	CDC GDP info	3667	Hs.471508			BMC Med Genet    2006    7(1)    36	Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism		147545		CDC	2006												
150298	Y	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	2	2q36	IRS1	227308181	227372719		Xin, X.  et al. 2006	16648810				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1		China	CDC GDP info	3667	Hs.471508			Neuro Endocrinol Lett    2006    27(1-2)	Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls		147545		CDC	2006	Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.											
150299	Y	C-peptide insulin-like growth factor sex hormones	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Fan, J.  et al. 2006	16752222				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	non-Hispanic		CDC GDP info	3667	Hs.471508			Breast Cancer Res Treat    2006	An association between a common variant (G972R) in the IRS-1 gene and sex hormone levels in post-menopausal breast cancer survivors		147545		CDC	2006												
150300		insulin obesity	METABOLIC	MET	Insulin Resistance|Obesity	2	2q36	IRS1	227308181	227372719		Pyrzak, B.  et al. 2006	17020651				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw    2006    12(3)    175-8	The influence of polymorphism the Gly972Arg variant insulin receptor substrate-1 (IRS-1) gene, and G-308A TNF-a gene on obesity and insulin resistance in children with obesity.		147545		CDC	2006												
150302		body mass diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	2	2q36	IRS1	227308181	227372719		Fallucca, F.  et al. 2006	17046546				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Metabolism    2006    55(11)    1451-6	Polymorphisms of insulin receptor substrate 1 and beta(3)-adrenergic receptor genes in gestational diabetes and normal pregnancy		147545		CDC	2006			family history									
150303		breast cancer	CANCER	CAN	Breast Neoplasms	2	2q36	IRS1	227308181	227372719		Slattery, M. L.  et al. 2006	17051426				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	non-Hispanic		CDC GDP info	3667	Hs.471508			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGFBP3, IRS1, IRS2 and risk of breast cancer in women living in Southwestern United States		147545		CDC	2006	Our data suggest that associations between insulin-related genes and breast cancer risk among women living in the Southwestern United States may be dependent on estrogen exposure and may differ by ethnicity.		body mass hormone replacement therapy									
150304	Y	diabetes, type 2 sleep apnea	METABOLIC	MET	Sleep Apnea, Obstructive|Insulin Resistance|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Bayazit, Y. A.  et al. 2006	17075427				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Laryngoscope    2006	Insulin Receptor Substrate Gene Polymorphism Is Associated With Obstructive Sleep Apnea Syndrome in Men		147545		CDC	2006	The polymorphism of the IRS-1 gene at codon 972, especially Gly/Arg variant, or the presence of the allele for Arg appears to be associated with occurrence of OSAS in male patients, whereas this polymorphism is not related to severity of OSAS.											
150305	N	obesity	METABOLIC	MET	Obesity	2	2q36	IRS1	227308181	227372719		Mergen, H.  et al. 2006	17124363				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Endocr J    2006	LEPR, ADBR3, IRS-1 and 5-HTT Genes Polymorphisms do not Associate with Obesity		147545		CDC	2006												
150307	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q36	IRS1	227308181	227372719		Florez, J. C.  et al. 2007	17443311				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	European;Polish;Scandinavian		CDC GDP info	3667	Hs.471508			Diabetologia    2007	Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes		147545		CDC	2007	 Our data do not support an association of common variants in IRS1 with type 2 diabetes in populations of European descent.											
150308		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q36	IRS1	227308181	227372719		Lyssenko, V.  et al. 2005	17570749				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			PLoS Med    2005    2(12)    e345	Genetic prediction of future type 2 diabetes		147545		CDC	2005	We demonstrate in a large prospective study that variants in the PPARG and CAPN10 genes predict future T2D.		body mass glucose									
150309		colon cancer	CANCER	CAN	Colonic Neoplasms|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Samowitz, W. S.  et al. 2006	16448675				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2			CDC GDP info	8660	Hs.442344			Mutat Res    2006	Polymorphisms in insulin-related genes predispose to specific KRAS2 and TP53 mutations in colon cancer		600797		CDC	2006												
150311		obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	13	13q34	IRS2	109204184	109236915		Bodhini, D.  et al. 2006	16652127				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Indian;Asian	India	CDC GDP info	8660	Hs.442344			Int J Obes (Lond)    2006	The G1057D polymorphism of IRS-2 gene and its relationship with obesity in conferring susceptibility to type 2 diabetes in Asian Indians		600797		CDC	2006	In Asian Indians, the DD genotype increases susceptibility to type 2 diabetes by interacting with obesity.											
150312		breast cancer	CANCER	CAN	Breast Neoplasms	13	13q34	IRS2	109204184	109236915		Slattery, M. L.  et al. 2006	17051426				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	non-Hispanic		CDC GDP info	8660	Hs.442344			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGFBP3, IRS1, IRS2 and risk of breast cancer in women living in Southwestern United States		600797		CDC	2006	Our data suggest that associations between insulin-related genes and breast cancer risk among women living in the Southwestern United States may be dependent on estrogen exposure and may differ by ethnicity.		body mass hormone replacement therapy									
150313		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Insulin Resistance	13	13q34	IRS2	109204184	109236915		Gunter, M. J.  et al. 2007	17416760				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2	Caucasian		CDC GDP info	8660	Hs.442344			Cancer Epidemiol Biomarkers Prev    2007    16(4)    703-8	Insulin resistance-related genes and advanced left-sided colorectal adenoma		600797		CDC	2007	we found limited evidence for a role of gene variants of the insulin signaling pathway and prevalence of advanced colorectal adenoma.		body mass glycemic load									
150315			CARDIOVASCULAR	CARD	Cardiovascular Diseases	5	5q23-q31	ITGA2	52320912	52426366		Moral, P.  et al. 2003	14746139				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	European		CDC GDP info	3673	Hs.591770			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		192974		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
150316	Y	oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Vairaktaris, E.  et al. 2006	16513317	ITGA2  C807/T807			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Eur J Surg Oncol    2006	Association of platelet glycoprotein Ia polymorphism with minor increase of risk for oral cancer		192974		CDC	2006	The obtained results indicate that the C807/T807 polymorphism is indeed a genetic predisposing factor which contributes to increased risk for oral cancer.											
150318	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q23-q31	ITGA2	52320912	52426366		Antoniades, C.  et al. 2006	16697311	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			J Am Coll Cardiol    2006    47(10)    1959-66	Genetic Polymorphisms of Platelet Glycoprotein Ia and the Risk for Premature Myocardial Infarction Effects on the Release of sCD40L During the Acute Phase of Premature Myocardial Infarction		192974		CDC	2006	Genetic polymorphism C807T increases the risk for premature MI.											
150319	Y	thrombocytopenic purpura, iimmune	HEMATOLOGICAL	HEM		5	5q23-q31	ITGA2	52320912	52426366			16793669				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	Korean		CDC GDP info	3673	Hs.591770			Platelets    1997    8(5)    361-5	Association of Br polymorphism of platelet GP Ia gene and immune thrombocytopenic purpura		192974		CDC	1997												
150320		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	5	5q23-q31	ITGA2	52320912	52426366		Nikolopoulos, G. K.  et al. 2006	16820192				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Thromb Res    2006	Integrin, alpha 2 gene C807T polymorphism and risk of ischemic stroke		192974		CDC	2006	effect should be interpreted carefully.											
150322		retinal vascular occlusion	VISION	VIS	Retinal Vein Occlusion	5	5q23-q31	ITGA2	52320912	52426366		Salomon, O.  et al. 2006	16905953				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Blood Coagul Fibrinolysis    2006    17(6)    485-488	Role of five platelet membrane glycoprotein polymorphisms in branch retinal vein occlusion		192974		CDC	2006												
150323			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Hoppe, B.  et al. 2006	17003923				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	German		CDC GDP info	3673	Hs.591770			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		192974		CDC	2006												
150325	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	5	5q23-q31	ITGA2	52320912	52426366		Carmichael, S. L.  et al. 2006	17036337				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		192974		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
150326	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	5	5q23-q31	ITGA2	52320912	52426366		Yamada, Y.  et al. 2006	17070428				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Am J Hypertens    2006    19(11)    1158-65	Assessment of the genetic component of hypertension		192974		CDC	2006	These results suggest that the genotypes for ITGA2, GCK, and PTGIS may prove reliable for the assessment of the genetic component of hypertension.											
150327	N	aspirin sensitivity	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Chronic Disease	5	5q23-q31	ITGA2	52320912	52426366		Bernardo, E.  et al. 2006	17127487				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Platelets    2006    17(8)    586-90	Lack of association between gene sequence variations of platelet membrane receptors and aspirin responsiveness detected by the PFA-100 system in patients with coronary artery disease		192974		CDC	2006												
150328		platelet reactivity	HEMATOLOGICAL	HEM		5	5q23-q31	ITGA2	52320912	52426366		Giusti, B.  et al. 2006	17157856				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Atherosclerosis    2006	Role of glycoprotein Ia gene polymorphisms in determining platelet function in myocardial infarction patients undergoing percutaneous coronary intervention on dual antiplatelet treatment		192974		CDC	2006	this study shows the 807T/873A allele of the GpIa gene is an independent risk factor for the RPR on dual antiplatelet treatment, and extends, in a larger acute coronary syndrome population, the observation that the 807T/873A allele is associated with higher platelet reactivity.											
150329			NORMALVARIATION	NV		5	5q23-q31	ITGA2	52320912	52426366		Al-Subaie, A. M.  et al. 2006	17160992				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Am J Hematol    2006	Gene frequencies of human platelet alloantigens in Bahraini Arabs		192974		CDC	2006												
150332		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Atherosclerosis	5	5q23-q31	ITGA2	52320912	52426366		Zhang, Y.  et al. 2006	17196570				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Clin Chim Acta    2006	Platelet glycoprotein polymorphisms		192974		CDC	2006	In our Chinese cohort the D allele of the GP Iba VNTR polymorphism is associated with atherothrombotic stroke.											
150333		platelet reactivity	PHARMACOGENOMIC	PHARM	Myocardial Ischemia|Syndrome|Acute Disease	5	5q23-q31	ITGA2	52320912	52426366		Cuisset, T.  et al. 2007	17264949				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Thromb Haemost    2007    97(2)    212-7	Lack of association between the 807 C/T polymorphism of glycoprotein Ia gene and post-treatment platelet reactivity after aspirin and clopidogrel in patients with acute coronary syndrome		192974		CDC	2007	our study did not show any influence of 807 C/T polymorphism of GpIa gene on post-treatment platelet reactivity assessed by ADP-Ag, PRI VASP or P-selectin expression in 601 NSTE ACS patients.		aspirin clopidogrel									
150334	N	coronary artery stent thrombosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Coronary Thrombosis|Acute Disease|Genetic Predisposition to Disease|Prosthesis Failure	5	5q23-q31	ITGA2	52320912	52426366		Sucker, C.  et al. 2007	17346829				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Int J Cardiol    2007	No evidence for involvement of prothrombotic platelet receptor polymorphisms in acute coronary stent thrombosis		192974		CDC	2007												
150336			NORMALVARIATION	NV		17	17q21.32	ITGA2B	39805075	39822399		Pavkovic, M.  et al. 2006	16573563				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3	European		CDC GDP info	3674	Hs.411312			Tissue Antigens    2006    67(3)    241-246	Gene frequencies of human platelet antigens in the Macedonian population		607759		CDC	2006	of our study were not significantly different from those reported in the other European studies.											
150337		brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Hemorrhages|Infant, Premature, Diseases	17	17q21.32	ITGA2B	39805075	39822399		Havasi, V.  et al. 2006	16773503				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Neuropediatrics    2006    37(2)    67-71	Increased Prevalence of Glycoprotein IIb/IIIa Leu33Pro Polymorphism in Term Infants with Grade I Intracranial Haemorrhage		607759		CDC	2006												
150338		retinal vascular occlusion	VISION	VIS	Retinal Vein Occlusion	17	17q21.32	ITGA2B	39805075	39822399		Salomon, O.  et al. 2006	16905953				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Blood Coagul Fibrinolysis    2006    17(6)    485-488	Role of five platelet membrane glycoprotein polymorphisms in branch retinal vein occlusion		607759		CDC	2006												
150339			NORMALVARIATION	NV		17	17q21.32	ITGA2B	39805075	39822399		Al-Subaie, A. M.  et al. 2006	17160992				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Am J Hematol    2006	Gene frequencies of human platelet alloantigens in Bahraini Arabs		607759		CDC	2006												
150340			NORMALVARIATION	NV		17	17q21.32	ITGA2B	39805075	39822399		Falchi, A.  et al. 2007	17320454				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Leg Med (Tokyo)    2007	Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations		607759		CDC	2007												
150342		Buerger's disease	CARDIOVASCULAR	CARD	Thromboangiitis Obliterans	17	17q21.32	ITGA2B	39805075	39822399		Ostojic, L.  et al. 2007	17495265				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Angiology    2007    58(2)    169-74	Platelet receptor HPA-1 polymorphism of alphaIIbbeta3 and 807 C/T polymorphism of alpha2beta1 and Buerger's disease		607759		CDC	2007												
150343		acute coronary syndrome	CARDIOVASCULAR	CARD		17	17q21.32	ITGA2B	39805075	39822399		Lekakis, J.  et al. 2007	17561290				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDP info	3674	Hs.411312			Int J Cardiol    2007	Platelet glycoprotein IIb HPA-3 polymorphism and acute coronary syndromes		607759		CDC	2007	Among patients with an acute coronary syndrome those being HPA-3b homozygous have a tendency to develop ST segment elevation myocardial infarction instead of non-ST segment elevation infarction or unstable angina. There is no association between the HPA-3 genotypes and future cardiovascular events.											
150344		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q31-q32	ITGA4	182029863	182110713		Andreoli, V.  et al. 2007	17609118				Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000885.4			CDC GDP info	3676	Hs.440955			J Neuroimmunol    2007	The role of VLA4 polymorphisms in multiple sclerosis		192975		CDC	2007												
150346	Y	rheumatoid arthritis	IMMUNE	IMM		2	2q31-q32	ITGAV	187163044	187253873		Jacq, L.  et al. 2007	17615072	ITGAV rs3738919-C allele			Integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002210	Caucasian;EuropeanFrench		CDC GDP info	3685	Hs.436873			Arthritis Res Ther    2007    9(4)    R63	The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population		193210		CDC	2007												
150347		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	21	21q22.3	ITGB2	45130296	45173181		Yamaguchi, S.  et al. 2006	17016617				integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000211			CDC GDP info	3689	Hs.375957			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		600065		CDC	2006												
150348			CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q21.32	ITGB3	42686206	42745076		Moral, P.  et al. 2003	14746139				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	European		CDC GDP info	3690	Hs.218040			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		173470		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
150350		myocardial infarct	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Myocardial Infarction	17	17q21.32	ITGB3	42686206	42745076		Wiwanitkit, V.  et al. 2006	16444441				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Clin Appl Thromb Hemost    2006    12(1)    93-5	PIA1/A2 Polymorphism of the Platelet Glycoprotein Receptor IIb/IIIIa and Its Correlation With Myocardial Infarction		173470		CDC	2006												
150351		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	17	17q21.32	ITGB3	42686206	42745076		Komitopoulou, A.  et al. 2006	16567932				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		173470		CDC	2006	Except for FVL, no definite											
150352	P		NORMALVARIATION	NV		17	17q21.32	ITGB3	42686206	42745076		Pavkovic, M.  et al. 2006	16573563				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	European		CDC GDP info	3690	Hs.218040			Tissue Antigens    2006    67(3)    241-246	Gene frequencies of human platelet antigens in the Macedonian population		173470		CDC	2006	of our study were not significantly different from those reported in the other European studies.											
150354		antithrombotic effect	PHARMACOGENOMIC	PHARM	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Dropinski, J.  et al. 2006	16675000				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Thromb Res    2006	Antithrombotic effects of aspirin based on PLA1/A2 glycoprotein IIIa polymorphism in patients with coronary artery disease		173470		CDC	2006	Genotyping for glycoprotein IIIa polymorphism might be helpful in predicting antithrombotic action of aspirin in secondary prevention of coronary artery disease.		aspirin									
150355		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17q21.32	ITGB3	42686206	42745076		Kranzhofer, R.  et al. 2006	16702043				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Platelets    2006    17(3)    163-9	Aspirin resistance in coronary artery disease is correlated to elevated markers for oxidative stress but not to the expression of cyclooxygenase (COX) 1/2, a novel COX-1 polymorphism or the PlA(1/2) polymorphism		173470		CDC	2006	AR appears to be unrelated to differences in platelet COX-1 and COX-2 expression or to a novel platelet COX-1 SNP and the PlA(1)/A(2) SNP. However, a correlation exists to elevated eicosanoids generated by oxidative stress indicating COX-1-independent pathways for the generation of platelet activating molecules represent a potential cause for AR.											
150356		serotonin levels	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease|Autistic Disorder	17	17q21.32	ITGB3	42686206	42745076		Weiss, L. A.  et al. 2006	16721604				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Hum Genet    2006    120(1)    93-100	ITGB3 shows genetic and expression interaction with SLC6A4		173470		CDC	2006												
150357	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q21.32	ITGB3	42686206	42745076		Weiss, L. A.  et al. 2006	16724005				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Hutterites		CDC GDP info	3690	Hs.218040			Eur J Hum Genet    2006	Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility		173470		CDC	2006												
150359		thromboembolic disease	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Podciechowski, L.  et al. 2006	16875034				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Poland	CDC GDP info	3690	Hs.218040			Ginekol Pol    2006    77(4)    286-91, 294-5	Occurrence of plasmic and platelet prothrombotic polymorphisms in women in childbirth		173470		CDC	2006	Our study shows that factor V Leiden mutation, and investigated platelet GP Ia, and GP IIIa polymorphisms frequently coexist.											
150360		retinal vascular occlusion	VISION	VIS	Retinal Vein Occlusion	17	17q21.32	ITGB3	42686206	42745076		Salomon, O.  et al. 2006	16905953				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Blood Coagul Fibrinolysis    2006    17(6)    485-488	Role of five platelet membrane glycoprotein polymorphisms in branch retinal vein occlusion		173470		CDC	2006												
150361		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Yilmaz, S.  et al. 2006	17111197				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		173470		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
150364	P		NORMALVARIATION	NV		17	17q21.32	ITGB3	42686206	42745076		Al-Subaie, A. M.  et al. 2006	17160992				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Am J Hematol    2006	Gene frequencies of human platelet alloantigens in Bahraini Arabs		173470		CDC	2006												
150365		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Atherosclerosis	17	17q21.32	ITGB3	42686206	42745076		Zhang, Y.  et al. 2006	17196570				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Clin Chim Acta    2006	Platelet glycoprotein polymorphisms		173470		CDC	2006	In our Chinese cohort the D allele of the GP Iba VNTR polymorphism is associated with atherothrombotic stroke.											
150366		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q21.32	ITGB3	42686206	42745076		Coutinho, A. M.  et al. 2007	17203304				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		173470		CDC	2007												
150367		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Recurrence	17	17q21.32	ITGB3	42686206	42745076		Kozieradzka, A.  et al. 2006	17206538				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Kardiol Pol    2006    64(12)    1350-1355	The effect of glycoprotein IIIa A1/A2 gene polymorphism on one-year outcome in patients with ST-segment elevation myocardial infarction treated with primary percutaneous coronary intervention		173470		CDC	2006	No relationship between GP IIb/IIIa A1/A2 gene polymorphism and STEMI incidence as well as one-year prognosis in patients with STEMI treated with pPCI was documented.											
150368	Y	breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Jakubowska, A.  et al. 2007	17220212				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Polish		CDC GDP info	3690	Hs.218040			J Med Genet    2007	Integrin {beta}3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk		173470		CDC	2007												
150369		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Komitopoulou, A.  et al. 2006	17230042				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		173470		CDC	2006												
150370	Y	fracture risk	OTHER	OTH	Hip Fractures|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Tofteng, C. L.  et al. 2007	17264806		integrin beta3 Leu33Pro		Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Danish	Denmark	CDC GDP info	3690	Hs.218040			Pharmacogenet Genomics    2007    17(1)    85-91	Integrin beta3 Leu33Pro polymorphism and risk of hip fracture		173470		CDC	2007	Individuals homozygous for the integrin beta3 Leu33Pro polymorphism have a two-fold risk of hip fracture, mainly confined to postmenopausal women. Integrin beta3 Leu33Pro homozygosity could prove a useful marker for risk of future hip fracture and may contribute to pharmacogenetic variation in effects of integrin alphavbeta3 antagonists.											
150371	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension	17	17q21.32	ITGB3	42686206	42745076		Lanni, F.  et al. 2007	17278970				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Sardinian		CDC GDP info	3690	Hs.218040			J Hypertens    2007    25(3)    551-556	The PlA1/A2 polymorphism of glycoprotein IIIa and cerebrovascular events in hypertension		173470		CDC	2007	Our data suggest that the Pl(A2) polymorphism is a genetic determinant of ischemic stroke in a selected high-risk hypertensive population.											
150372	N	atrial fibrillation stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Atrial Fibrillation|Recurrence	17	17q21.32	ITGB3	42686206	42745076		Berge, E.  et al. 2007	17290027				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Stroke    2007	The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation		173470		CDC	2007	These mutations are not important risk factors for thromboembolic stroke associated with atrial fibrillation.											
150373			NORMALVARIATION	NV		17	17q21.32	ITGB3	42686206	42745076		Falchi, A.  et al. 2007	17320454				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Leg Med (Tokyo)    2007	Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations		173470		CDC	2007												
150374		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sudden|Thrombosis|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Capaccio, P.  et al. 2007	17334320				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Laryngoscope    2007    117(3)    547-51	Genetic and acquired prothrombotic risk factors and sudden hearing loss		173470		CDC	2007	The association between inherited and acquired prothrombotic factors and sudden HL suggests that the microvascular impairment causing SSNHL may be caused by a multifactorial mechanism.											
150375	N	coronary artery stent thrombosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Coronary Thrombosis|Acute Disease|Genetic Predisposition to Disease|Prosthesis Failure	17	17q21.32	ITGB3	42686206	42745076		Sucker, C.  et al. 2007	17346829				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Int J Cardiol    2007	No evidence for involvement of prothrombotic platelet receptor polymorphisms in acute coronary stent thrombosis		173470		CDC	2007												
150377		Autism	PSYCH	PSY	Autistic Disorder	17	17q21.32	ITGB3	42686206	42745076		Cross, S.  et al. 2007	17406648				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040	5-hydroxytryptamine		Neuropsychopharmacology    2007	Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism		173470		CDC	2007												
150378		clopidogrel resistance	PHARMACOGENOMIC	PHARM	Brain Ischemia|Myocardial Ischemia	17	17q21.32	ITGB3	42686206	42745076		Papp, E.  et al. 2007	17432927				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Drugs Aging    2007    24(4)    345-50	Does Glycoprotein IIIa Gene (Pl(A)) Polymorphism Influence Clopidogrel Resistance?		173470		CDC	2007	Our results show that carriers of the Pl(A2) allele do not have an increased risk of clopidogrel resistance.											
150379	Y	asthma IgE wheezing	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Respiratory Hypersensitivity|Genetic Predisposition to Disease|Respiratory Sounds	17	17q21.32	ITGB3	42686206	42745076		Thompson, E. E.  et al. 2007	17556058				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			J Allergy Clin Immunol    2007    119(6)    1423-9	Integrin beta3 genotype influences asthma and allergy phenotypes in the first 6 years of life		173470		CDC	2007	Our results suggest that genetic variation in ITGB3 contributes to asthma susceptibility and allergic sensitization, and that the effects of this gene begin early in life.											
150380		aspirin resistance	PHARMACOGENOMIC	PHARM		17	17q21.32	ITGB3	42686206	42745076		Li, Q.  et al. 2007	17559347				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Chinese;Caucasian		CDC GDP info	3690	Hs.218040			Pharmacogenomics    2007    8(6)    577-586	Frequency of genetic polymorphisms of COX1, GPIIIa and P2Y1 in a Chinese population and association with attenuated response to aspirin		173470		CDC	2007	The COX1 A-842G, C50T and GPIIIa PLA1/A2 polymorphisms are rare in Chinese. In contrast to previous studies in Caucasian populations, these candidate functional polymorphisms are unlikely to be significant contributors to aspirin pharmacodynamics in Chinese persons. Importantly, the presence of the P2Y1 893CC genotype appears to confer an attenuated antiplatelet effect during aspirin treatment in healthy Chinese volunteers. These data collectively underscore the importance of population-to-population variability in clinical pharmacogenetics research and provide a basis for further long-term studies of aspirin response and P2Y1 genetic variation in patients with cardiovascular risk.											
150381	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis|Genetic Predisposition to Disease	3	3p21.2-p21.1	ITIH3	52803853	52817855		Ebana, Y.  et al. 2007	17211523				Inter-alpha (globulin) inhibitor H3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002217			CDC GDP info	3699	Hs.76716			J Hum Genet    2007	A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction		146650		CDC	2007												
150382		Crohn's disease diabetes, type 2 ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Diabetes Mellitus, Type 2|Chronic Disease	1	1q22-q23.5	ITLN1	159112953	159121584		Schaffler, A.  et al. 2007	17295929				Intelectin 1 (galactofuranose binding)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY549722			CDC GDP info	55600	Hs.50813			Cardiovasc Diabetol    2007    6(1)    3	Frequency and significance of the novel single nucleotide missense polymorphism Val109Asp in the human gene encoding omentin in Caucasian patients with type 2 diabetes mellitus or chronic inflammatory bowel diseases		609873		CDC	2007	Based on sequence comparisons and homology searches, the amino acid position 109 is conserved in the omentin gene of humans, mice and chimpanzee but is not completely conserved between other omentin homologous genes.											
150383	Y	hepatotoxicity leukopenia	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Hepatitis, Toxic|Leukopenia	20	20p	ITPA	3138055	3152506		Zelinkova, Z.  et al. 2006	16431304	ITPA 94C>A			Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDP info	3704	Hs.415299			Clin Gastroenterol Hepatol    2006    4(1)    44-9	Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression		147520		CDC	2006	ITPA 94C>A and TPMT polymorphisms are associated with AZA-related leukopenia in IBD patients.		azathioprine									
150384	N	azathiprine adverse events	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Pancreatitis|Leukopenia|Genetic Predisposition to Disease	20	20p	ITPA	3138055	3152506		De Ridder, L.  et al. 2006	16611274				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDP info	3704	Hs.415299			Aliment Pharmacol Ther    2006    23(8)    1137-41	Pharmacogenetics of thiopurine therapy in paediatric IBD patients		147520		CDC	2006	No association of functional ITPA and TPMT polymorphisms and the occurrence of azathioprine related adverse events could be detected.											
150386		inosine triphosphate pyrophosphohydrolase activity	METABOLIC	MET		20	20p	ITPA	3138055	3152506		Atanasova, S.  et al. 2007	17304144				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDP info	3704	Hs.415299			Ther Drug Monit    2007    29(1)    6-10	Analysis of ITPA Phenotype-Genotype Correlation in the Bulgarian Population Revealed a Novel Gene Variant in Exon 6		147520		CDC	2007												
150387		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	20	20p	ITPA	3138055	3152506		Wessels, J. A.  et al. 2007	17530705				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDP info	3704	Hs.415299			Arthritis Rheum    2007    56(6)    1765-1775	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis		147520		CDC	2007	This study established a model for predicting the efficacy of MTX in patients with RA.		methotrexate									
150388	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	20	20p12.1-p11.23	JAG1	10566333	10602590		The Games Collaborative, = Group  et al. 2006	16934875				Jagged 1 (Alagille syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000214.1	European	Europe	CDC GDP info	182	Hs.590881			J Neuroimmunol    2006	Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans		601920		CDC	2006												
150389		leukoencephalopathy	NEUROLOGICAL	NEUR	Brain Diseases|CADASIL	20	20p12.1-p11.23	JAG1	10566333	10602590		Ungaro, C.  et al. 2007	17368936				Jagged 1 (Alagille syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000214.1			CDC GDP info	182	Hs.590881			Neurosci Lett    2007	Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy		601920		CDC	2007												
150391		erythrocytosis	HEMATOLOGICAL	HEM	Polycythemia	9	9p24	JAK2	4975244	5117995		Percy, M. J.  et al. 2006	16503548				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Haematologica    2006	The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis		147796		CDC	2006												
150392	Y	Budd-Chiari syndrome hematology indices polycythemia vera	CARDIOVASCULAR	CARD	Budd-Chiari Syndrome|Budd-Chiari Syndrome|Disease Progression	9	9p24	JAK2	4975244	5117995		Patel, R. K.  et al. 2006	16762626	JAK2V617F			Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Gastroenterology    2006    130(7)    2031-2038	Prevalence of the Activating JAK2 Tyrosine Kinase Mutation V617F in the Budd-Chiari Syndrome		147796		CDC	2006	JAK2V617F occurs in a high proportion of patients with BCS.											
150393		leucocytosis myelofibrosis polycythemia vera splenomegaly thrombocythemia thrombosis	HEMATOLOGICAL	HEM	Myeloproliferative Disorders	9	9p24	JAK2	4975244	5117995		Speletas, M.  et al. 2006	17045648				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Leuk Res    2006	Correlations of JAK2-V617F mutation with clinical and laboratory findings in patients with myeloproliferative disorders		147796		CDC	2006												
150395		cerebral venous thrombosis venous thrombosis, splanchnic	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombocythemia, Hemorrhagic|Myeloproliferative Disorders|Polycythemia Vera	9	9p24	JAK2	4975244	5117995		De Stefano, V.  et al. 2007	17263783				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			J Thromb Haemost    2007	Prevalence of the JAK2(V617F) mutation among patients with splanchnic or cerebral venous thrombosis and without overt chronic myeloproliferative disorders		147796		CDC	2007	A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD.											
150396		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera	9	9p24	JAK2	4975244	5117995		Remacha, A. F.  et al. 2007	17296594				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Haematologica    2007    92(2)    285-6	The V617F mutation of JAK2 is very uncommon in patients with thrombosis		147796		CDC	2007												
150397	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Myeloproliferative Disorders	9	9p24	JAK2	4975244	5117995		Colaizzo, D.  et al. 2007	17307838				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			J Med Genet    2007	Gain of function gene mutations and venous thromboembolism		147796		CDC	2007	Carriership of FV Leiden or FII A20210 mutations identifies an at-risk condition for venous thrombosis in the lower extremities, SVT or CVT. In patients with SVT, screening for the JAK2 V617F mutation may be useful in recognising patients who should be carefully observed for the subsequent development of overt MPD. Thus, genetic tests may play a different ro											
150399		polycythemia vera thrombocythemia	HEMATOLOGICAL	HEM	Cardiovascular Diseases|Thrombosis|Thrombocythemia, Hemorrhagic|Polycythemia Vera|Pruritus	9	9p24	JAK2	4975244	5117995		Vannucchi, A. M.  et al. 2007	17379742				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Blood    2007	Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia		147796		CDC	2007												
150400		leukemia	CANCER	CAN	Hematologic Neoplasms	9	9p24	JAK2	4975244	5117995		Ruiz-Arguelles, G. J.  et al. 2006	17408106				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2	Mexican		CDC GDP info	3717	Hs.591081			Rev Invest Clin    2006    58(5)    458-61	The Janus Kinase 2 (JAK2) V617F mutation in hematological malignancies in Mexico		147796		CDC	2006												
150401		fetal loss thrombocythemia	REPRODUCTION	REP	Pregnancy Complications, Neoplastic|Fetal Death|Fetal Growth Retardation|Pre-Eclampsia|Pregnancy Complications, Hematologic|Hypertension|Thrombocythemia, Hemorrhagic	9	9p24	JAK2	4975244	5117995		Passamonti, F.  et al. 2007	17426257				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Blood    2007	Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2(V617F) mutation		147796		CDC	2007												
150402		intra-abdominal thromboses	CARDIOVASCULAR	CARD	Thrombosis|Myeloproliferative Disorders|Chronic Disease	9	9p24	JAK2	4975244	5117995		McMahon, C.  et al. 2007	17439832				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Am J Clin Pathol    2007    127(5)    736-43	JAK2 V617F Mutation in Patients With Catastrophic Intra-abdominal Thromboses		147796		CDC	2007												
150403	Y	myelofibrosis myeloproliferative disorder polycythemia vera thrombocythemia	OTHER	OTH	Thrombocythemia, Hemorrhagic|Myeloproliferative Disorders|Myelofibrosis|Polycythemia Vera|Chronic Disease	9	9p24	JAK2	4975244	5117995		Langabeer, S. E.  et al. 2007	17440677	JAK2 V617F			Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Ir J Med Sci    2007	Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative disorders		147796		CDC	2007	The incidence of the JAK2 V617F mutation in MPD patients is similar to that reported by other groups.											
150405		cerebral venous thrombosis pulmonary embolism retinal vascular occlusion thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Thrombocythemia, Hemorrhagic|Myeloproliferative Disorders|Polycythemia Vera	9	9p24	JAK2	4975244	5117995		Pardanani, A.  et al. 2007	17460706				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Leukemia    2007	JAK2V617F prevalence and allele burden in non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder		147796		CDC	2007												
150406		height	DEVELOPMENTAL	DEV		9	9p24	JAK2	4975244	5117995		Lettre, G.  et al. 2007	17546465				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		147796		CDC	2007												
150407	Y	thrombocythemia	HEMATOLOGICAL	HEM	Thrombocythemia, Hemorrhagic	9	9p24	JAK2	4975244	5117995		Falanga, A.  et al. 2007	17577920				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Exp Hematol    2007    35(5)    702-11	V617F JAK-2 mutation in patients with essential thrombocythemia		147796		CDC	2007	These results show that a correlation exists between the presence of V617F JAK2 mutation and selected hemostatic activation variables.											
150408	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p24-p23	JARID2	15354505	15630232		Pedrosa, E.  et al. 2006	16967465				Jumonji, AT rich interactive domain 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004973			CDC GDP info	3720	Hs.696068			Am J Med Genet B Neuropsychiatr Genet    2006	Positive association of schizophrenia to JARID2 gene				CDC	2006												
150409		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic|Genetic Predisposition to Disease	20	20q13.12	JPH2	42173749	42249632		Matsushita, Y.  et al. 2007	17476457				Junctophilin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020433			CDC GDP info	57158	Hs.441737			J Hum Genet    2007	Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy		605267		CDC	2007												
150410		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	20	20q13.12	JPH2	42173749	42249632		Landstrom, A. P.  et al. 2007	17509612				Junctophilin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020433			CDC GDP info	57158	Hs.441737			J Mol Cell Cardiol    2007	Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans		605267		CDC	2007												
150411		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	16	16q24.3	JPH3	86193999	86289262		Costa, M. D.  et al. 2006	16858508				Junctophilin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020655.2	Portuguese		CDC GDP info	57338	Hs.592068			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		605268		CDC	2006												
150412	N	hypogonadotrophic hypogonadism	METABOLIC	MET	Hypogonadism|Kallmann Syndrome|Genetic Predisposition to Disease	X	Xp22.32	KAL1	8456914	8660227		Bhagavath, B.  et al. 2007	17213338				Kallmann syndrome 1 sequence	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000216.1			CDC GDP info	3730	Hs.521869			Mol Hum Reprod    2007	KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans		308700		CDC	2007												
150413		long QT syndrome	CARDIOVASCULAR	CARD	Romano-Ward Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443			16414944				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDP info	3753	Hs.121495			JAMA    2005    294(23)    2975-80	Genetic testing in the long QT syndrome		176261		CDC	2005	We have developed an approach to improve the efficiency of genetic screening for LQTS.											
150414			CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Koo, S. H.  et al. 2006	16487223				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Chinese;Indian;Singapore;Asian	Malaysia|Singapore|India|China	CDC GDP info	3753	Hs.121495			Br J Clin Pharmacol    2006    61(3)    301-8	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore		176261		CDC	2006	There exist multiple genetic polymorphisms of the LQTS-associated genes in the three distinct Asian populations. Though the functional significance of many of these SNPs is unknown, this interindividual and interethnic genetic variability may underlie the different susceptibilities of individuals to developing LQTS.											
150415		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Tester, D. J.  et al. 2006	16487842				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDP info	3753	Hs.121495			J Am Coll Cardiol    2006    47(4)    764-8	Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing		176261		CDC	2006	In this large cohort of unrelated patients referred for LQTS genetic testing, the clinical phenotype strongly correlated with the likelihood of elucidating a pathogenic mutation with the cardiac channel gene screen.											
150416	N	atrial fibrillation	CHEMDEPENDENCY	CHEM		21	21q22.1-q22.2	KCNE1	34740857	34806443		Zeng, Z. Y.  et al. 2005	16563243				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Asian		CDC GDP info	3753	Hs.121495			Zhonghua Xin Xue Guan Bing Za Zhi    2005    33(11)    987-91	The association of single nucleotide polymorphism of slow delayed rectifier K+ channel genes with atrial fibrillation in Han nationality Chinese		176261		CDC	2005	None of the SNPs of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N was associated with atrial fibrillation phenotype, but KCNE4 E145D may relation to atrial fibrillation.											
150418		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation	21	21q22.1-q22.2	KCNE1	34740857	34806443		Zeng, Z.  et al. 2006	17016049				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Asian		CDC GDP info	3753	Hs.121495			Cardiology    2006    108(2)    97-103	The Single Nucleotide Polymorphisms of I(Ks) Potassium Channel Genes and Their Association with Atrial Fibrillation in a Chinese Population		176261		CDC	2006												
150419		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	21	21q22.1-q22.2	KCNE1	34740857	34806443		Arnestad, M.  et al. 2007	17210839				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Norwegian		CDC GDP info	3753	Hs.121495			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		176261		CDC	2007	We demonstrated that 9.											
150420	N	EKG, abnormal	CARDIOVASCULAR	CARD		21	21q22.1-q22.2	KCNE1	34740857	34806443		Akyol, M.  et al. 2007	17227789				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Caucasian;European		CDC GDP info	3753	Hs.121495			Eur Heart J    2007	The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians		176261		CDC	2007	Unlike the common Lysine 897 Threonine variant of KCNH2 (K897T, rs1805123) the G38S variant of KCNE1 does not appear to have a strong modifying effect on QT interval.											
150421	N	atriventricular block long QT syndrome	CHEMDEPENDENCY	CHEM	Heart Block|Torsades de Pointes|Genetic Predisposition to Disease	21	21q22.1-q22.2	KCNE1	34740857	34806443		Chevalier, P.  et al. 2007	17275752				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDP info	3753	Hs.121495			Heart Rhythm    2007    4(2)    170-4	Torsades de pointes complicating atrioventricular block		176261		CDC	2007	This study showed that complete AV block complicated by LQTS was associated with HERG mutations in 17% of cases. Further studies are needed to identify factors, genetic or environmental, which may be implicated in bradycardia-related abnormalities of ventricular repolarization.											
150422	N	EKG, abnormal	CARDIOVASCULAR	CARD		21	21q22.1-q22.2	KCNE1	34740857	34806443		Gouas, L.  et al. 2007	17534376				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2	Caucasian;European		CDC GDP info	3753	Hs.121495			Eur J Hum Genet    2007	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects		176261		CDC	2007	our study confirms the reported associations between QTc length and KCNQ1 rs757092 and KCNH2 rs3815459.											
150423		long QT syndrome	CARDIOVASCULAR	CARD	Romano-Ward Syndrome	21	21q22.12	KCNE2	34658192	34665310			16414944				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDP info	9992	Hs.551521			JAMA    2005    294(23)    2975-80	Genetic testing in the long QT syndrome		603796		CDC	2005	We have developed an approach to improve the efficiency of genetic screening for LQTS.											
150424			CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Koo, S. H.  et al. 2006	16487223				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1	Chinese;Indian;Singapore;Asian	Malaysia|Singapore|India|China	CDC GDP info	9992	Hs.551521			Br J Clin Pharmacol    2006    61(3)    301-8	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore		603796		CDC	2006	There exist multiple genetic polymorphisms of the LQTS-associated genes in the three distinct Asian populations. Though the functional significance of many of these SNPs is unknown, this interindividual and interethnic genetic variability may underlie the different susceptibilities of individuals to developing LQTS.											
150425		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Tester, D. J.  et al. 2006	16487842				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDP info	9992	Hs.551521			J Am Coll Cardiol    2006    47(4)    764-8	Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing		603796		CDC	2006	In this large cohort of unrelated patients referred for LQTS genetic testing, the clinical phenotype strongly correlated with the likelihood of elucidating a pathogenic mutation with the cardiac channel gene screen.											
150427		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	21	21q22.12	KCNE2	34658192	34665310		Arnestad, M.  et al. 2007	17210839				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1	Norwegian		CDC GDP info	9992	Hs.551521			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		603796		CDC	2007	We demonstrated that 9.											
150429	Y	EKG, abnormal	CARDIOVASCULAR	CARD		21	21q22.12	KCNE2	34658192	34665310		Gouas, L.  et al. 2007	17534376				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1	Caucasian;European		CDC GDP info	9992	Hs.551521			Eur J Hum Genet    2007	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects		603796		CDC	2007	our study confirms the reported associations between QTc length and KCNQ1 rs757092 and KCNH2 rs3815459.											
150430	N	atrial fibrillation	CHEMDEPENDENCY	CHEM		2	2q36.3	KCNE4	223625170	223626873		Zeng, Z. Y.  et al. 2005	16563243				Potassium voltage-gated channel, Isk-related family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ420572	Asian		CDC GDP info	23704	Hs.591620			Zhonghua Xin Xue Guan Bing Za Zhi    2005    33(11)    987-91	The association of single nucleotide polymorphism of slow delayed rectifier K+ channel genes with atrial fibrillation in Han nationality Chinese		607775		CDC	2005	None of the SNPs of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N was associated with atrial fibrillation phenotype, but KCNE4 E145D may relation to atrial fibrillation.											
150431		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation	2	2q36.3	KCNE4	223625170	223626873		Zeng, Z.  et al. 2006	17016049				Potassium voltage-gated channel, Isk-related family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ420572	Asian		CDC GDP info	23704	Hs.591620			Cardiology    2006    108(2)    97-103	The Single Nucleotide Polymorphisms of I(Ks) Potassium Channel Genes and Their Association with Atrial Fibrillation in a Chinese Population		607775		CDC	2006												
150432		long QT syndrome	CARDIOVASCULAR	CARD	Romano-Ward Syndrome	7	7q35-q36	KCNH2	150272981	150305947			16414944				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			JAMA    2005    294(23)    2975-80	Genetic testing in the long QT syndrome		152427		CDC	2005	We have developed an approach to improve the efficiency of genetic screening for LQTS.											
150433	Y	cardiac repolarization	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Linna, E. H.  et al. 2006	16472284				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			Ann Noninvasive Electrocardiol    2006    11(1)    57-62	Functional Significance of KCNH2 (HERG) K897T Polymorphism for Cardiac Repolarization Assessed by Analysis of T-Wave Morphology		152427		CDC	2006	The common K897T polymorphism of the cardiac potassium channel KCNH2 has functional significance for cardiac electrical properties.											
150435		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Tester, D. J.  et al. 2006	16487842				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			J Am Coll Cardiol    2006    47(4)    764-8	Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing		152427		CDC	2006	In this large cohort of unrelated patients referred for LQTS genetic testing, the clinical phenotype strongly correlated with the likelihood of elucidating a pathogenic mutation with the cardiac channel gene screen.											
150436		gastrointestinal symptoms	CARDIOVASCULAR	CARD	Gastrointestinal Diseases|Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Locke, G. R. = 3rd et al. 2006	16771953				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			Am J Gastroenterol    2006    101(6)    1299-304	Gastrointestinal Symptoms in Families of Patients with an SCN5A-Encoded Cardiac Channelopathy		152427		CDC	2006	This study is the first to suggest an association between a well-defined cardiac channelopathy and GI symptoms. The role of sodium channelopathies in the pathogenesis of digestive diseases merits exploration.											
150437			CARDIOVASCULAR	CARD	Long QT Syndrome	7	7q35-q36	KCNH2	150272981	150305947		Tester, D. J.  et al. 2006	16818214				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			Heart Rhythm    2006    3(7)    815-21	Allelic dropout in long QT syndrome genetic testing		152427		CDC	2006	Allelic dropout secondary to intronic SNP-primer mismatch prevented the discovery of LQTS-causing mutations in four cases. Considering that many LQTS genetic testing research laboratories have used these primers, patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupt											
150438		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	7	7q35-q36	KCNH2	150272981	150305947		Arnestad, M.  et al. 2007	17210839				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Norwegian		CDC GDP info	3757	Hs.438823			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		152427		CDC	2007	We demonstrated that 9.											
150439	Y	EKG, abnormal	CARDIOVASCULAR	CARD		7	7q35-q36	KCNH2	150272981	150305947		Akyol, M.  et al. 2007	17227789				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Caucasian;European		CDC GDP info	3757	Hs.438823			Eur Heart J    2007	The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians		152427		CDC	2007	Unlike the common Lysine 897 Threonine variant of KCNH2 (K897T, rs1805123) the G38S variant of KCNE1 does not appear to have a strong modifying effect on QT interval.											
150440	Y	atriventricular block long QT syndrome	CHEMDEPENDENCY	CHEM	Heart Block|Torsades de Pointes|Genetic Predisposition to Disease	7	7q35-q36	KCNH2	150272981	150305947		Chevalier, P.  et al. 2007	17275752				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			Heart Rhythm    2007    4(2)    170-4	Torsades de pointes complicating atrioventricular block		152427		CDC	2007	This study showed that complete AV block complicated by LQTS was associated with HERG mutations in 17% of cases. Further studies are needed to identify factors, genetic or environmental, which may be implicated in bradycardia-related abnormalities of ventricular repolarization.											
150441	N	SIDS/sudden infant death syndrome	OTHER	OTH	Long QT Syndrome|Sudden Infant Death	7	7q35-q36	KCNH2	150272981	150305947		Arnestad, M.  et al. 2007	17429906				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2			CDC GDP info	3757	Hs.438823			Acta Paediatr    2007    96(2)    206-10	A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome		152427		CDC	2007	The mtDNA polymorphism studied was found in a small number of SIDS cases and the frequency did not differ statistically from control subjects, making an association with increased SIDS risk unlikely.											
150442	N	EKG, abnormal	CARDIOVASCULAR	CARD		7	7q35-q36	KCNH2	150272981	150305947		Gouas, L.  et al. 2007	17534376				Potassium voltage-gated channel, subfamily H (eag-related), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000238.2	Caucasian;European		CDC GDP info	3757	Hs.438823			Eur J Hum Genet    2007	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects		152427		CDC	2007	our study confirms the reported associations between QTc length and KCNQ1 rs757092 and KCNH2 rs3815459.											
150443		coronary heart disease	CARDIOVASCULAR	CARD	Coronary Disease	11	11p15.1	KCNJ11	17363371	17367440		Xiong, C.  et al. 2006	16455067				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Clin Chim Acta    2006	The E23K polymorphism in Kir6.2 gene and coronary heart disease		600937		CDC	2006	The E23K gene polymorphism in Kir6.											
150444	Y	sulfonylurea failure, secondary	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Sesti, G.  et al. 2006	16595597				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Caucasian		CDC GDP info	3767	Hs.248141			J Clin Endocrinol Metab    2006	The E23K variant of KCNJ11 encoding the pancreatic {beta}-cell KATP channel subunits Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes		600937		CDC	2006	These data suggest that the E23K variant in KCNJ11 may influence the variability in the response of patients to sulfonylureas, thus representing an example of pharmacogenetics in type 2 diabetes.											
150445	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus	11	11p15.1	KCNJ11	17363371	17367440		Flanagan, S. E.  et al. 2006	16609879				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Diabetologia    2006	Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype		600937		CDC	2006	 KCNJ11 mutations are a common cause of permanent diabetes diagnosed in the first 6 months and all patients diagnosed in this age group should be tested. There is a strong genotype-phenotype relationship with the mutation being an important determinant of associated neurological features.											
150446		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Edghill, E. L.  et al. 2006	16731860				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Italian		CDC GDP info	3767	Hs.248141			Diabetes    2006    55(6)    1895-8	HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months		600937		CDC	2006	infants diagnosed with diabetes before 6 months of age are unlikely to have autoimmune type 1 diabetes and are most likely to have a monogenic etiology.											
150447	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Liu, Z.  et al. 2006	16733889				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    124-8	Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population		600937		CDC	2006	KCNJII gene is one of the susceptibility genes of type 2 diabetes in Chinese Han population.											
150448		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Yokoi, N.  et al. 2006	16873704				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Japanese;European		CDC GDP info	3767	Hs.248141			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		600937		CDC	2006												
150450	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Willer, C. J.  et al. 2007	17192490				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		600937		CDC	2007												
150451	Y	diabetes, type 2 hypertension	METABOLIC	MET	Diabetic Angiopathies|Hypertension|Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Koo, B. K.  et al. 2007	17257281				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Korean	Korea	CDC GDP info	3767	Hs.248141			Diabet Med    2007    24(2)    178-86	Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population		600937		CDC	2007	Polymorphisms in KCNJ11 are associated with Type 2 diabetes and also with hypertension in the Korean population.											
150452	Y	diabetes, type 2 insulin	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Florez, J. C.  et al. 2007	17259403				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Diabetes    2007    56(2)    531-6	Type 2 Diabetes-Associated Missense Polymorphisms KCNJ11 E23K and ABCC8 A1369S Influence Progression to Diabetes and Response to Interventions in the Diabetes Prevention Program		600937		CDC	2007	the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT.		metformin									
150453	N	androgen polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Diabetes Mellitus, Type 2	11	11p15.1	KCNJ11	17363371	17367440		Barber, T. M.  et al. 2007	17342155				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Finnish;Irish		CDC GDP info	3767	Hs.248141			Eur J Hum Genet    2007	Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels		600937		CDC	2007	these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded.											
150454		insulin	METABOLIC	MET	Persistent Hyperinsulinemia Hypoglycemia of Infancy	11	11p15.1	KCNJ11	17363371	17367440		Greer, R. M.  et al. 2007	17378627				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Pediatr Dev Pathol    2007    10(1)    25-34	Genotype-phenotype associations in patients with severe hyperinsulinism of infancy		600937		CDC	2007												
150455		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Scott, L. J. et al.  et al. 2007	17463248				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3	Finnish		CDC GDP info	3767	Hs.248141			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		600937		CDC	2007												
150457	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Sale, M. M.  et al. 2007	17601994				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		600937		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
150459		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	21	21q22.1	KCNJ6	37918656	38210566		Saccone, S. F.  et al. 2006	17135278				Potassium inwardly-rectifying channel, subfamily J, member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002240.2			CDC GDP info	3763	Hs.50927			Hum Mol Genet    2006	Cholinergic Nicotinic Receptor Genes Implicated in a Nicotine Dependence Association Study Targeting 348 Candidate Genes with 3,713 SNPs		600877		CDC	2006												
150460	P		NORMALVARIATION	NV		5	5q34	KCNMB1	169737744	169749216		Gong, Y.  et al. 2007	17496725				Potassium large conductance calcium-activated channel, subfamily M, beta member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004137.2	European;Native American		CDC GDP info	3779	Hs.484099			Pharmacogenet Genomics    2007    17(4)    267-75	Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit		603951		CDC	2007												
150461	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsies, Myoclonic|Epilepsy, Generalized|Epilepsy, Absence	3	3q26.3-q27	KCNMB3	180440302	180467532		Lorenz, S.  et al. 2006	16958040				Potassium large conductance calcium-activated channel, subfamily M beta member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC082272	German		CDC GDP info	27094	Hs.591285			Am J Med Genet B Neuropsychiatr Genet    2006	Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy		605222		CDC	2006												
150462		long QT syndrome	CARDIOVASCULAR	CARD	Romano-Ward Syndrome	11	11p15.5	KCNQ1	2422796	2826916			16414944				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			JAMA    2005    294(23)    2975-80	Genetic testing in the long QT syndrome		607542		CDC	2005	We have developed an approach to improve the efficiency of genetic screening for LQTS.											
150463			CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Koo, S. H.  et al. 2006	16487223				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Chinese;Indian;Singapore;Asian	Malaysia|Singapore|India|China	CDC GDP info	3784	Hs.95162			Br J Clin Pharmacol    2006    61(3)    301-8	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore		607542		CDC	2006	There exist multiple genetic polymorphisms of the LQTS-associated genes in the three distinct Asian populations. Though the functional significance of many of these SNPs is unknown, this interindividual and interethnic genetic variability may underlie the different susceptibilities of individuals to developing LQTS.											
150464		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Tester, D. J.  et al. 2006	16487842				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			J Am Coll Cardiol    2006    47(4)    764-8	Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing		607542		CDC	2006	In this large cohort of unrelated patients referred for LQTS genetic testing, the clinical phenotype strongly correlated with the likelihood of elucidating a pathogenic mutation with the cardiac channel gene screen.											
150465	N	atrial fibrillation	CHEMDEPENDENCY	CHEM		11	11p15.5	KCNQ1	2422796	2826916		Zeng, Z. Y.  et al. 2005	16563243				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Asian		CDC GDP info	3784	Hs.95162			Zhonghua Xin Xue Guan Bing Za Zhi    2005    33(11)    987-91	The association of single nucleotide polymorphism of slow delayed rectifier K+ channel genes with atrial fibrillation in Han nationality Chinese		607542		CDC	2005	None of the SNPs of KCNQ1 P448R, KCNQ1 R519H, KCNQ1 G643S, KCNE1 G38S and KCNE1 D85N was associated with atrial fibrillation phenotype, but KCNE4 E145D may relation to atrial fibrillation.											
150466		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome	11	11p15.5	KCNQ1	2422796	2826916		Ozawa, T.  et al. 2006	16723781				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			Circ J    2006    70(6)    645-50	Gender and Age Effects on Ventricular Repolarization Abnormality in Japanese General Carriers of a G643S Common Single Nucleotide Polymorphism for the KCNQ1 Gene		607542		CDC	2006	In elderly females, G643S might be an independent risk factor for secondary LQTS by causing a greater TDR.											
150468		hearing loss, noise-induced	OTHER	OTH	Hearing Loss, Noise-Induced|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Van Laer, L.  et al. 2006	16823764				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			Hum Mutat    2006	The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss		607542		CDC	2006												
150469		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation	11	11p15.5	KCNQ1	2422796	2826916		Zeng, Z.  et al. 2006	17016049				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Asian		CDC GDP info	3784	Hs.95162			Cardiology    2006    108(2)    97-103	The Single Nucleotide Polymorphisms of I(Ks) Potassium Channel Genes and Their Association with Atrial Fibrillation in a Chinese Population		607542		CDC	2006												
150470		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Mank-Seymour, A. R.  et al. 2006	17161064				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2			CDC GDP info	3784	Hs.95162			Am Heart J    2006    152(6)    1116-22	Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes		607542		CDC	2006	Genotypes alone could not be used to completely predict susceptibility to TdP, even when used with phenotypes.											
150472	Y	long-QT syndrome	CARDIOVASCULAR	CARD	Syncope|Death, Sudden, Cardiac|Romano-Ward Syndrome|Heart Arrest|Genetic Predisposition to Disease	11	11p15.5	KCNQ1	2422796	2826916		Moss, A. J.  et al. 2007	17470695				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2		United States|Japan|Netherlands	CDC GDP info	3784	Hs.95162			Circulation    2007	Clinical Aspects of Type-1 Long-QT Syndrome by Location, Coding Type, and Biophysical Function of Mutations Involving the KCNQ1 Gene		607542		CDC	2007	This genotype-phenotype study indicates that in type-1 LQTS, mutations located in the transmembrane portion of the ion channel protein and the degree of ion channel dysfunction caused by the mutations are important independent risk factors influencing the clinical course of this disorder.											
150473	Y	EKG, abnormal	CARDIOVASCULAR	CARD		11	11p15.5	KCNQ1	2422796	2826916		Gouas, L.  et al. 2007	17534376				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Caucasian;European		CDC GDP info	3784	Hs.95162			Eur J Hum Genet    2007	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects		607542		CDC	2007	our study confirms the reported associations between QTc length and KCNQ1 rs757092 and KCNH2 rs3815459.											
150474		hearing loss, noise-induced	OTHER	OTH	Hearing Loss, Noise-Induced|Genetic Predisposition to Disease	1	1p34	KCNQ4	41022270	41076947		Van Laer, L.  et al. 2006	16823764				Potassium voltage-gated channel, KQT-like subfamily, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK074957			CDC GDP info	9132	Hs.473058			Hum Mutat    2006	The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss		603537		CDC	2006												
150475		hearing loss, age-related	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease	1	1p34	KCNQ4	41022270	41076947		Van Eyken, E.  et al. 2006	16917933				Potassium voltage-gated channel, KQT-like subfamily, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK074957	Caucasian		CDC GDP info	9132	Hs.473058			Hum Mutat    2006    27(10)    1007-16	KCNQ4		603537		CDC	2006												
150477	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	4	4q11-q12	KDR	55639405	55686519		Park, H. W.  et al. 2006	16630933				Kinase insert domain receptor (a type III receptor tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002253.1	Korean	Korea	CDC GDP info	3791	Hs.479756			J Allergy Clin Immunol    2006    117(4)    774-9	Association between genetic variations of vascular endothelial growth factor receptor 2 and atopy in the Korean population		191306		CDC	2006	The present study demonstrated that genetic variations of VEGFR2 are significantly associated with atopy in the Korean population.											
150478		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4q11-q12	KDR	55639405	55686519		Forsti, A.  et al. 2006	16807673				Kinase insert domain receptor (a type III receptor tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002253.1			CDC GDP info	3791	Hs.479756			Breast Cancer Res Treat    2006	Polymorphisms in the KDR and POSTN Genes		191306		CDC	2006												
150479		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	9	9p24.2	KIAA0020	2794154	2834130		van Heel, D. A.  et al. 2007	17558408				KIAA0020	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014878			CDC GDP info	9933	Hs.493309			Nat Genet    2007	A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21		609960		CDC	2007												
150480		dyslexia	NEUROLOGICAL	NEUR	Dyslexia	6	6p22.3-p22.2	KIAA0319	24652310	24754362		Harold, D.  et al. 2006	17033633				KIAA0319	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014809.2	German		CDC GDP info	9856	Hs.26441			Mol Psychiatry    2006    11(12)    1085-91, 1061	Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia		609269		CDC	2006												
150482		schizophrenia	PSYCH	PSY	Schizophrenia	5	5q12-q13	KIF2A	61637834	61717967		Li, C.  et al. 2006	16959419				Kinesin heavy chain member 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC047544			CDC GDP info	3796	Hs.558351			Neurosci Lett    2006	A family-based association study of kinesin heavy chain member 2 gene (KIF2) and schizophrenia				CDC	2006												
150483	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	12	12q13.13	KIF5A	56230113	56264821		Deluca, G. C.  et al. 2007	17420921				Kinesin family member 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB210045			CDC GDP info	3798	Hs.151219			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		602821		CDC	2007												
150484	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL1	59927795	60001550			16403292				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218	Caucasian		CDC GDP info	3802	Hs.512572			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604936		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150486		hepatitis C	INFECTION	INF		19	19q13.4	KIR2DL1	59927795	60001550		Montes-Cano, M. A.  et al. 2005	16571411				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDP info	3802	Hs.512572			Hum Immunol    2005    66(11)    1106-9	HLA-C and KIR Genes in Hepatitis C Virus Infection		604936		CDC	2005												
150487		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DL1	59927795	60001550		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDP info	3802	Hs.512572			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604936		CDC	2007												
150488			NORMALVARIATION	NV		19	19q13.4	KIR2DL1	59927795	60001550		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218	Indian;Asian		CDC GDP info	3802	Hs.512572			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604936		CDC	2007												
150490		hepatitis C	INFECTION	INF		19	19q13.4	KIR2DL2	59927795	60001550		Montes-Cano, M. A.  et al. 2005	16571411				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDP info	3803	Hs.534327			Hum Immunol    2005    66(11)    1106-9	HLA-C and KIR Genes in Hepatitis C Virus Infection		604937		CDC	2005												
150491			NORMALVARIATION	NV		19	19q13.4	KIR2DL2	59927795	60001550		Gutierrez-Rodriguez, M. E.  et al. 2006	16698429				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439	Caucasian;Mexican	Mexico	CDC GDP info	3803	Hs.534327			Hum Immunol    2006    67(1-2)    85-93	KIR Gene in Ethnic and Mestizo Populations from Mexico		604937		CDC	2006												
150492	P	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.4	KIR2DL2	59927795	60001550		Santin, I.  et al. 2006	16698433				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439		Spain	CDC GDP info	3803	Hs.534327			Hum Immunol    2006    67(1-2)    118-24	Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population		604937		CDC	2006	our results confirm the particular genetic characteristics of the Basque population.											
150493			NORMALVARIATION	NV		19	19q13.4	KIR2DL2	59927795	60001550		Mahfouz, R.  et al. 2006	16774542				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439		Lebanon	CDC GDP info	3803	Hs.534327			Tissue Antigens    2006    68(1)    66-71	Distribution of killer cell immunoglobulin-like receptors genotypes in the Lebanese population		604937		CDC	2006												
150494		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	19	19q13.4	KIR2DL2	59927795	60001550		Jones, D. C.  et al. 2006	16929347				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDP info	3803	Hs.534327			Genes Immun    2006	Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility		604937		CDC	2006												
150496		kidney transplant	RENAL	REN	Neoplasm Recurrence, Local|Graft vs Host Disease	19	19q13.4	KIR2DL2	59927795	60001550		Cirocco, R. E.  et al. 2007	17445184				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDP info	3803	Hs.534327			Tissue Antigens    2007    69 Suppl 1    123-4	Killer cell immunoglobulin-like receptor polymorphisms in HLA-identical kidney transplant recipients		604937		CDC	2007	the genotyping of HLA-matched sibling kidney transplant D/R pairs demonstrates that there may be an association of higher risk for poor graft function when both genotypes lack 2DL2 and 2DS2.											
150497			NORMALVARIATION	NV		19	19q13.4	KIR2DL2	59927795	60001550		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439	Indian;Asian		CDC GDP info	3803	Hs.534327			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604937		CDC	2007												
150498	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL3	59927795	60001550			16403292				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730	Caucasian		CDC GDP info	3804	Hs.512573			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604938		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150500		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	19	19q13.4	KIR2DL3	59927795	60001550		Jones, D. C.  et al. 2006	16929347				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDP info	3804	Hs.512573			Genes Immun    2006	Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility		604938		CDC	2006												
150501		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.4	KIR2DL3	59927795	60001550		Zuniga, J.  et al. 2006	17145370				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDP info	3804	Hs.512573			Hum Immunol    2006    67(11)    907-14	Interaction of KIR Genes and G1M Immunoglobulin Allotypes Confer Susceptibility to Type 2 Diabetes in Puerto Rican Americans		604938		CDC	2006												
150502			NORMALVARIATION	NV		19	19q13.4	KIR2DL3	59927795	60001550		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDP info	3804	Hs.512573			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604938		CDC	2007												
150503		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DL3	59927795	60001550		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050730			CDC GDP info	3804	Hs.512573			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604938		CDC	2007												
150505	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL4	59989604	60070482			16403292				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255	Caucasian		CDC GDP info	3805	Hs.166085			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604945		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150506			NORMALVARIATION	NV		19	19q13.4	KIR2DL4	59989604	60070482		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255			CDC GDP info	3805	Hs.166085			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604945		CDC	2007												
150507		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DL4	59989604	60070482		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255			CDC GDP info	3805	Hs.166085			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604945		CDC	2007												
150509	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL5A					16403292				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5		Caucasian		CDC GDP info	57292	HS.512659			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		605305		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150510			NORMALVARIATION	NV		19	19q13.4	KIR2DL5A				Gutierrez-Rodriguez, M. E.  et al. 2006	16698429				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5		Caucasian;Mexican	Mexico	CDC GDP info	57292	HS.512659			Hum Immunol    2006    67(1-2)    85-93	KIR Gene in Ethnic and Mestizo Populations from Mexico		605305		CDC	2006												
150512			NORMALVARIATION	NV		19	19q13.4	KIR2DL5A				Middleton, D.  et al. 2007	17200871				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5				CDC GDP info	57292	HS.512659			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		605305		CDC	2007												
150513	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19q13.4	KIR2DL5A				Santin, I.  et al. 2007	17215859				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5				CDC GDP info	57292	HS.512659			Genes Immun    2007	Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4		605305		CDC	2007												
150515			NORMALVARIATION	NV		19	19q13.4	KIR2DL5A				Flores, A. C.  et al. 2007	17498266				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5		Indian;Asian		CDC GDP info	57292	HS.512659			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		605305		CDC	2007												
150516	P		NORMALVARIATION	NV		19	19p13.3	KIR2DL5B					16403292				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Caucasian		CDC GDP info	553128	Hs.676464			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.				CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150518	P		NORMALVARIATION	NV		19	19q13.4	KIR2DP1					16403292				killer cell immunoglobulin-like receptor, two domains, pseudogene 1		Caucasian		CDC GDP info	554300				Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.				CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150519		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DP1				Chen, A. M.  et al. 2007	17490516				killer cell immunoglobulin-like receptor, two domains, pseudogene 1				CDC GDP info	554300				Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia				CDC	2007												
150520			NORMALVARIATION	NV		19	19q13.4	KIR2DP1				Flores, A. C.  et al. 2007	17498266				killer cell immunoglobulin-like receptor, two domains, pseudogene 1		Indian;Asian		CDC GDP info	554300				Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations				CDC	2007												
150521	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS1	257787	271802			16403292				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Caucasian		CDC GDP info	3806	Hs.512574			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604952		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150523		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS1	257787	271802		Ploski, R.  et al. 2006	16829306				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Polish		CDC GDP info	3806	Hs.512574			Hum Immunol    2006    67(7)    521-6	A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis		604952		CDC	2006	the effect of the KIR genes on psoriasis susceptibility is complex, extending beyond the association with KIR2DS1 and involving protective effects and interactions.											
150524		lupus erythematosus sclerosis, systemic	IMMUNE	IMM	Lupus Erythematosus, Systemic|Scleroderma, Diffuse|Cadaver	19	19q13.4	KIR2DS1	257787	271802		Pellett, F.  et al. 2007	17445179				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Caucasian		CDC GDP info	3806	Hs.512574			Tissue Antigens    2007    69 Suppl 1    106-8	KIRs and autoimmune disease		604952		CDC	2007												
150525			NORMALVARIATION	NV		19	19q13.4	KIR2DS1	257787	271802		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Indian;Asian		CDC GDP info	3806	Hs.512574			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604952		CDC	2007												
150527	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS2	274137	288432			16403292				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1	Caucasian		CDC GDP info	3807	Hs.632752			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604953		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150528		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	19	19q13.4	KIR2DS2	274137	288432		Jones, D. C.  et al. 2006	16929347				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDP info	3807	Hs.632752			Genes Immun    2006	Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility		604953		CDC	2006												
150529			NORMALVARIATION	NV		19	19q13.4	KIR2DS2	274137	288432		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDP info	3807	Hs.632752			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604953		CDC	2007												
150530		lupus erythematosus sclerosis, systemic	IMMUNE	IMM	Lupus Erythematosus, Systemic|Scleroderma, Diffuse|Cadaver	19	19q13.4	KIR2DS2	274137	288432		Pellett, F.  et al. 2007	17445179				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1	Caucasian		CDC GDP info	3807	Hs.632752			Tissue Antigens    2007    69 Suppl 1    106-8	KIRs and autoimmune disease		604953		CDC	2007												
150532		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DS2	274137	288432		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDP info	3807	Hs.632752			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604953		CDC	2007												
150534	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS3	240800	255821			16403292				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3		Caucasian		CDC GDP info	3808	HS.375019			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604954		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150535		polyangiitis	CARDIOVASCULAR	CARD	Vasculitis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS3	240800	255821		Miyashita, R.  et al. 2006	16508981				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3				CDC GDP info	3808	HS.375019			Arthritis Rheum    2006    54(3)    992-7	Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis		604954		CDC	2006	The decreased activation potential of NK and/or T cells associated with KIR/HLA genotypes may predispose to MPA, possibly through insufficient resistance against infections.											
150536		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS3	240800	255821		Ploski, R.  et al. 2006	16829306				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3		Polish		CDC GDP info	3808	HS.375019			Hum Immunol    2006    67(7)    521-6	A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis		604954		CDC	2006	the effect of the KIR genes on psoriasis susceptibility is complex, extending beyond the association with KIR2DS1 and involving protective effects and interactions.											
150537			NORMALVARIATION	NV		19	19q13.4	KIR2DS3	240800	255821		Flores, A. C.  et al. 2007	17498266				killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3		Indian;Asian		CDC GDP info	3808	HS.375019			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604954		CDC	2007												
150538	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS4	59989604	60070482			16403292				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314	Caucasian		CDC GDP info	3809	Hs.258612			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604955		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150539		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.4	KIR2DS4	59989604	60070482		Zuniga, J.  et al. 2006	17145370				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDP info	3809	Hs.258612			Hum Immunol    2006    67(11)    907-14	Interaction of KIR Genes and G1M Immunoglobulin Allotypes Confer Susceptibility to Type 2 Diabetes in Puerto Rican Americans		604955		CDC	2006												
150542		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DS4	59989604	60070482		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDP info	3809	Hs.258612			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604955		CDC	2007												
150543		bladder cancer colorectal cancer laryngeal cancer	CANCER	CAN	Colorectal Neoplasms|Laryngeal Neoplasms|Urinary Bladder Neoplasms	19	19q13.4	KIR2DS4	59989604	60070482		Middleton, D.  et al. 2007	17493145				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDP info	3809	Hs.258612			Tissue Antigens    2007    69(3)    220-6	Analysis of KIR gene frequencies in HLA class I characterised bladder, colorectal and laryngeal tumours		604955		CDC	2007												
150544			NORMALVARIATION	NV		19	19q13.4	KIR2DS4	59989604	60070482		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314	Indian;Asian		CDC GDP info	3809	Hs.258612			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604955		CDC	2007												
150545	P		NORMALVARIATION	NV		19	19q13.4	KIR2DS5	240800	255821			16403292				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Caucasian		CDC GDP info	3810	Hs.375019			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604956		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150547	P	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.4	KIR2DS5	240800	255821		Santin, I.  et al. 2006	16698433				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081		Spain	CDC GDP info	3810	Hs.375019			Hum Immunol    2006    67(1-2)    118-24	Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population		604956		CDC	2006	our results confirm the particular genetic characteristics of the Basque population.											
150548		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	19	19q13.4	KIR2DS5	240800	255821		Ploski, R.  et al. 2006	16829306				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Polish		CDC GDP info	3810	Hs.375019			Hum Immunol    2006    67(7)    521-6	A Role for KIR Gene Variants Other Than KIR2DS1 in Conferring Susceptibility to Psoriasis		604956		CDC	2006	the effect of the KIR genes on psoriasis susceptibility is complex, extending beyond the association with KIR2DS1 and involving protective effects and interactions.											
150549		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.4	KIR2DS5	240800	255821		Middleton, D.  et al. 2006	17174747				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081			CDC GDP info	3810	Hs.375019			Hum Immunol    2006    67(12)    986-90	Investigation of KIR Gene Frequencies in Type 1 Diabetes Mellitus		604956		CDC	2006												
150550		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DS5	240800	255821		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081			CDC GDP info	3810	Hs.375019			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604956		CDC	2007												
150552	P		NORMALVARIATION	NV		19	19q13.4	KIR3DL1	59989604	60070482			16403292				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Caucasian		CDC GDP info	3811	Hs.512572			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604946		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150553		polyangiitis	CARDIOVASCULAR	CARD	Vasculitis|Genetic Predisposition to Disease	19	19q13.4	KIR3DL1	59989604	60070482		Miyashita, R.  et al. 2006	16508981				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDP info	3811	Hs.512572			Arthritis Rheum    2006    54(3)    992-7	Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis		604946		CDC	2006	The decreased activation potential of NK and/or T cells associated with KIR/HLA genotypes may predispose to MPA, possibly through insufficient resistance against infections.											
150554		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	19	19q13.4	KIR3DL1	59989604	60070482		Lopez-Larrea, C.  et al. 2006	16805919				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Spanish;Spanish;Caucasian		CDC GDP info	3811	Hs.512572			Arthritis Res Ther    2006    8(4)    R101	Contribution of KIR3DL1/3DS1 to ankylosing spondylitis in human leukocyte antigen-B27 Caucasian populations		604946		CDC	2006												
150556		graft-versus-host disease	IMMUNE	IMM	Leukemia|Graft vs Host Disease	19	19q13.4	KIR3DL1	59989604	60070482		McQueen, K. L.  et al. 2007	17462498				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDP info	3811	Hs.512572			Hum Immunol    2007    68(5)    309-23	Donor-Recipient Combinations of Group A and B KIR Haplotypes and HLA class I Ligand Affect the Outcome of HLA-Matched, Sibling Donor Hematopoietic Cell Transplantation		604946		CDC	2007												
150557		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR3DL1	59989604	60070482		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDP info	3811	Hs.512572			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604946		CDC	2007												
150558		bladder cancer colorectal cancer laryngeal cancer	CANCER	CAN	Colorectal Neoplasms|Laryngeal Neoplasms|Urinary Bladder Neoplasms	19	19q13.4	KIR3DL1	59989604	60070482		Middleton, D.  et al. 2007	17493145				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDP info	3811	Hs.512572			Tissue Antigens    2007    69(3)    220-6	Analysis of KIR gene frequencies in HLA class I characterised bladder, colorectal and laryngeal tumours		604946		CDC	2007												
150559			NORMALVARIATION	NV		19	19q13.4	KIR3DL1	59989604	60070482		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1	Indian;Asian		CDC GDP info	3811	Hs.512572			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604946		CDC	2007												
150561	P		NORMALVARIATION	NV		19	19q13.4	KIR3DL2	59989604	60070482		Jiang, K.  et al. 2006	16767680				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595			CDC GDP info	3812	Hs.380156			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    339-42	Allelic polymorphism analysis of killer cell immunoglobulin-like receptor gene 3DL2 in Zhejiang Han population.		604947		CDC	2006	The PCR-SSOP method was reliable. There is a distinctive allele frequency of KIR3DL2 in Zhejiang Han population.											
150562	P		NORMALVARIATION	NV		19	19q13.4	KIR3DL2	59989604	60070482		Yan, L. X.  et al. 2006	16948642				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595			CDC GDP info	3812	Hs.380156			Tissue Antigens    2006    68(3)    220-4	Investigation of killer cell immunoglobulin-like receptors gene KIR3DL2 diversity and confirmation of KIR3DL2*015 in a Chinese population		604947		CDC	2006												
150563		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR3DL2	59989604	60070482		Chen, A. M.  et al. 2007	17490516				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595			CDC GDP info	3812	Hs.380156			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604947		CDC	2007												
150565	P		NORMALVARIATION	NV		19	19q13.42	KIR3DL3	59927795	60001550			16403292				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AF352324	Caucasian		CDC GDP info	115653	Hs.278457			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		610095		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150566		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.42	KIR3DL3	59927795	60001550		Chen, A. M.  et al. 2007	17490516				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AF352324			CDC GDP info	115653	Hs.278457			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		610095		CDC	2007												
150567			NORMALVARIATION	NV		19	19q13.42	KIR3DL3	59927795	60001550		Flores, A. C.  et al. 2007	17498266				killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AF352324	Indian;Asian		CDC GDP info	115653	Hs.278457			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		610095		CDC	2007												
150569	P		NORMALVARIATION	NV		19		KIR3DP1	59927795	60001550		Flores, A. C.  et al. 2007	17498266				Killer-cell Ig-like receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ630586	Indian;Asian		CDC GDP info	768329	Hs.690615			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		610604		CDC	2007												
150571	P		NORMALVARIATION	NV				KIR3DS1				Gutierrez-Rodriguez, M. E.  et al. 2006	16698429				killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=L76661	Caucasian;Mexican	Mexico	CDC GDP info	3813	Hs.683173			Hum Immunol    2006    67(1-2)    85-93	KIR Gene in Ethnic and Mestizo Populations from Mexico		604957		CDC	2006												
150572	P	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease			KIR3DS1				Santin, I.  et al. 2006	16698433				killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=L76661		Spain	CDC GDP info	3813	Hs.683173			Hum Immunol    2006    67(1-2)    118-24	Killer Cell Immunoglobulin-Like Receptor (KIR) Genes in the Basque Population		604957		CDC	2006	our results confirm the particular genetic characteristics of the Basque population.											
150573	P		NORMALVARIATION	NV				KIR3DS1				Middleton, D.  et al. 2007	17200871				killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=L76661			CDC GDP info	3813	Hs.683173			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604957		CDC	2007												
150574		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease			KIR3DS1				Chen, A. M.  et al. 2007	17490516				killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=L76661			CDC GDP info	3813	Hs.683173			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		604957		CDC	2007												
150575		precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	1	1q32	KISS1	202426091	202432242		Luan, X.  et al. 2007	17609410				KiSS-1 metastasis-suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM807845			CDC GDP info	3814	Hs.95008			Eur J Endocrinol    2007    157(1)    113-118	Association study of the polymorphisms in the KISS1 gene with central precocious puberty in Chinese girls		603286		CDC	2007	The polymorphism scanning and typing of KISS1 uncovered several potentially meaningful polymorphisms, but the conclusion was not solid and further studies are necessary for function validation of these polymorphisms.											
150577	Y	stomach cancer	CANCER	CAN	Gastrointestinal Stromal Tumors	4	4q11-q12	KIT	55218917	55301612		Andersson, J.  et al. 2006	16697720				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDP info	3815	Hs.479754			Gastroenterology    2006    130(6)    1573-81	Gastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis		164920		CDC	2006	KIT exon 11 deletion is an independent adverse prognostic factor in patients with GIST.											
150578	Y	infertility, male	REPRODUCTION	REP	Infertility, Male	4	4q11-q12	KIT	55218917	55301612		Galan, J. J.  et al. 2006	16905672				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDP info	3815	Hs.479754			Hum Reprod    2006	Association of genetic markers within the KIT and KITLG genes with human male infertility		164920		CDC	2006	Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.											
150580	Y	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	4	4q11-q12	KIT	55218917	55301612		Kim, S. Y.  et al. 2007	17487541				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1	Korean		CDC GDP info	3815	Hs.479754			J Hum Genet    2007	Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women		164920		CDC	2007												
150581	Y	infertility, male	REPRODUCTION	REP	Infertility, Male	12	12q22	KITLG	87410697	87498369		Galan, J. J.  et al. 2006	16905672				KIT ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003994.4			CDC GDP info	4254	Hs.1048			Hum Reprod    2006	Association of genetic markers within the KIT and KITLG genes with human male infertility		184745		CDC	2006	Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.											
150582	Y	angina, vasospastic atherosclerosis, coronary	CARDIOVASCULAR	CARD	Angina Pectoris, Variant|Coronary Artery Disease|Atherosclerosis	13	13q12	KL	32488200	32538279		Imamura, A.  et al. 2006	16579981	KL   -395A			Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDP info	9365	Hs.524953			Clin Chim Acta    2006	Klotho gene polymorphism may be a genetic risk factor for atherosclerotic coronary artery disease but not for vasospastic angina in Japanese		604824		CDC	2006	The -395A polymorphism of the human klotho gene may be a genetic risk factor for IHD and not for VSA.											
150583	N	cholesterol, HDL cholesterol, LDL diabetes, type 2 insulin triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	13	13q12	KL	32488200	32538279		Freathy, R. M.  et al. 2006	16753056				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Caucasian	Great Britain	CDC GDP info	9365	Hs.524953			BMC Med Genet    2006    7(1)    51	The functional KL-VS variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians		604824		CDC	2006	This is the first large-scale study to examine the association between common functional variation in KL and type 2 diabetes risk. We have found no evidence that the functional KL-VS variant is a risk factor for type 2 diabetes in a large UK Caucasian case-control and family-based study.											
150585	Y	blood pressure, arterial body mass glucose insulin lipids	CARDIOVASCULAR	CARD	Cardiovascular Diseases	13	13q12	KL	32488200	32538279		Rhee, E. J.  et al. 2006	16957409			promoter	Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Korean		CDC GDP info	9365	Hs.524953			J Endocrinol Invest    2006    29(7)    613-8	Relationship between polymorphisms G395A in promoter and C1818T in exon 4 of the KLOTHO gene with glucose metabolism and cardiovascular risk factors in Korean women		604824		CDC	2006	We observed that KLOTHO G395A polymorphism was associated with blood pressure and KLOTHO C1818T polymorphism was associated with glucose metabolism in Korean women.											
150586	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Dementia, Vascular|Heart Diseases|Embolism|Acute Disease	13	13q12	KL	32488200	32538279		Kim, Y.  et al. 2006	16973281				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDP info	9365	Hs.524953			Neurosci Lett    2006	Klotho is a genetic risk factor for ischemic stroke caused by cardioembolism in Korean females		604824		CDC	2006												
150587	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Artery Disease|Atherosclerosis	13	13q12	KL	32488200	32538279		Rhee, E. J.  et al. 2006	16979405				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Korean		CDC GDP info	9365	Hs.524953			Metabolism    2006    55(10)    1344-51	The differential effects of age on the association of KLOTHO gene polymorphisms with coronary artery disease		604824		CDC	2006												
150589	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis|Disease Progression|Genetic Predisposition to Disease|Diseases in Twins	13	13q12	KL	32488200	32538279		Zhang, F.  et al. 2007	17270470				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2	Caucasian		CDC GDP info	9365	Hs.524953			Osteoarthritis Cartilage    2007	Association between KLOTHO gene and hand osteoarthritis in a female Caucasian population		604824		CDC	2007	Our results suggest that one variant in KLOTHO gene is associated with the susceptibility of hand OA and appears to act through osteophyte formation rather than cartilage damage.											
150590		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	13	13q12	KL	32488200	32538279		Elliott, L.  et al. 2007	17408468				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDP info	9365	Hs.524953			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		604824		CDC	2007												
150591		cognitive impairment	PSYCH	PSY	Alzheimer Disease|Disease Progression	14	14q32.3	KLC1	103165277	103237641		Andersson, M. E.  et al. 2007	17611642				kinesin light chain 1				CDC GDP info	3831	Hs.657678			Int J Mol Med    2007    20(2)    233-9	Kinesin gene variability may affect tau phosphorylation in early Alzheimer's disease		600025		CDC	2007												
150592	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2p25	KLF11	10101132	10112414		Florez, J. C.  et al. 2006	17130512	KLF11  Q62R			Kruppel-like factor 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003597.4	European		CDC GDP info	8462	Hs.12229			Diabetes    2006    55(12)    3620-4	The Kruppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not Associated With Type 2 Diabetes in 8,676 People		603301		CDC	2006												
150593	N	obesity	METABOLIC	MET	Obesity|Body Weight	19	19p13.13-p13.11	KLF2	16296650	16299339			16542423				Kruppel-like factor 2 (lung)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016270.2	French		CDC GDP info	10365	Hs.107740			BMC Med Genet    2006    7(1)    26	A study of the relationships between KLF2 polymorphisms and body weight control in a French population		602016		CDC	2006												
150594	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10p15	KLF6	3808187	3817455		Bar-Shira, A.  et al. 2006	16598737				Kruppel-like factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008490.1	Ashkenazi;Jewish		CDC GDP info	1316	Hs.4055			Prostate    2006	Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6		602053		CDC	2006	We found no evidence that MSR1 and PTEN germline mutations are associated with prostate cancer risk in Jews.											
150595	N	prostate cancer prostatic hyperplasia	CANCER	CAN		10	10p15	KLF6	3808187	3817455		Seppala, E. H.  et al. 2006	17125911	KLF6 IVS1 -27G>			Kruppel-like factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008490.1	Finnish		CDC GDP info	1316	Hs.4055			Eur Urol    2006	KLF6 IVS1 -27G>A Variant and the Risk of Prostate Cancer in Finland		602053		CDC	2006	Our results do not support the suggested association of KLF6 IVS1 -27G>A germline polymorphism with pCA risk and also suggest that the variant is not a risk allele for BPH in the Finnish population.											
150597		Alzheimer's disease vascular dementia	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.3	KLK1	56014215	56018855		Wang, H. K.  et al. 2006	16465461				Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2			CDC GDP info	3816	Hs.123107			J Neural Transm    2006	Apolipoprotein E, angiotensin-converting enzyme and kallikrein gene polymorphisms and the risk of Alzheimer's disease and vascular dementia		147910		CDC	2006												
150599	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK2	56068500	56075635		Nam, R. K.  et al. 2006	17085659				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3			CDC GDP info	3817	Hs.515560			Clin Cancer Res    2006    12(21)    6452-8	Variants of the hK2 Protein Gene (KLK2) Are Associated with Serum hK2 Levels and Predict the Presence of Prostate Cancer at Biopsy		147960		CDC	2006	These findings suggest a role for the KLK2 gene in prostate cancer susceptibility and imply that this role may be realized at least in part by the induction of increases in hK2 production.											
150600		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK2	56068500	56075635		Mittal, R. D.  et al. 2006	17257635				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3			CDC GDP info	3817	Hs.515560			Steroids    2006	Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population?		147960		CDC	2006												
150602	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832			16424004				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Cancer Res    2006    66(2)    743-7	Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors		176820		CDC	2006	our results suggest that several SNPs along the androgen pathway, especially in CYP19A1 and CYP17A1, may influence prostate cancer development and progression.											
150603		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832			16425097				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Cancer Causes Control    2006    17(2)    187-97	Genetic Susceptibility to Prostate Cancer		176820		CDC	2006	We found evidence that the PSA*2*2 diplotype in combination with short AR CAG alleles increases a man\s risk of developing prostate cancer. These findings support an etiologic role in prostate cancer of genetic interactions between polymorphisms that increase AR transactivation strength and those that alter the regulatory regions of target genes such as PSA that are responsive to androgen stimulation.											
150604		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Severi, G.  et al. 2006	16775173				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1142-7	Variants in the Prostate-Specific Antigen (PSA) Gene and Prostate Cancer Risk, Survival, and Circulating PSA		176820		CDC	2006												
150605		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Okugi, H.  et al. 2006	16859836				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Cancer Detect Prev    2006	Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population		176820		CDC	2006	Genetic polymorphisms of the genes involved in androgen metabolism and signaling were significantly associated with familial prostate cancer risk.											
150607		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Mittal, R. D.  et al. 2006	17257635				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Steroids    2006	Is there an inter-relationship between prostate specific antigen, kallikrein-2 and androgen receptor gene polymorphisms with risk of prostate cancer in north Indian population?		176820		CDC	2006												
150608		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.41	KLK3	56049982	56055832		Cunningham, J. M.  et al. 2007	17507624				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		176820		CDC	2007												
150609		prostate cancer	CANCER	CAN		19	19q13.41	KLK3	56049982	56055832		Pal, P.  et al. 2007	17593395				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2	European		CDC GDP info	354	Hs.171995			Hum Genet    2007	Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin		176820		CDC	2007												
150610		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q34-q35	KLKB1	187385665	187416619		Lu, X.  et al. 2007	17318641				Kallikrein B, plasma (Fletcher factor) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000892			CDC GDP info	3818	Hs.646885			Hum Genet    2007	Common variation in KLKB1 and essential hypertension risk		229000		CDC	2007			alcohol									
150611	N	lupus erythematosus	IMMUNE	IMM		12	12p13	KLRC1	10489903	10498251		Ren, L. L.  et al. 2007	17545086				Killer cell lectin-like receptor subfamily C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002259.3			CDC GDP info	3821	Hs.512576			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(5)    672-4	Identification of a novel candidate gene KLRC1 within the putative susceptibility locus for systemic lupus erythematosus at 12p12.3-13.2 in a Chinese cohort.		161555		CDC	2007												
150612		cancer	CANCER	CAN	Neoplasms	12	12p13.2-p12.3	KLRC4	10451249	10453623			16397273				Killer cell lectin-like receptor subfamily C, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ001683			CDC GDP info	8302	Hs.665704			Cancer Res    2006    66(1)    563-70	Identification of the NKG2D Haplotypes Associated with Natural Cytotoxic Activity of Peripheral Blood Lymphocytes and Cancer Immunosurveillance		602893		CDC	2006												
150613	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	12	12p13.2-p12.3	KLRC4	10451249	10453623		Cao, Q.  et al. 2006	17217747				Killer cell lectin-like receptor subfamily C, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ001683		China	CDC GDP info	8302	Hs.665704			Zhonghua Nei Ke Za Zhi    2006    45(10)    824-6	The relationship of nature killer cell 2D gene polymorphisms and ulcerative colitis in the Chinese		602893		CDC	2006	The common variants in NKG2D are not associated with UC in the Chinese Han population.											
150614		schizophrenia	PSYCH	PSY		1	1q42-q44	KMO	239762329	239825566		Aoyama, N.  et al. 2006	16643513				Kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF056032			CDC GDP info	8564	Hs.409081			Genes Brain Behav    2006	Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population		603538		CDC	2006												
150615		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42-q44	KMO	239762329	239825566		Aoyama, N.  et al. 2006	16716206				Kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF056032			CDC GDP info	8564	Hs.409081			Genes Brain Behav    2006    5(4)    364-8	Association study between kynurenine 3-monooxygenase gene and schizophrenia in the Japanese population		603538		CDC	2006												
150616		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Coronary Disease|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Obesity	3	3q27	KNG1	187917813	187944437		Vionnet, N.  et al. 2006	17065357				Kininogen 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000893			CDC GDP info	3827	Hs.77741			Diabetes    2006    55(11)    3166-74	Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations				CDC	2006												
150617		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14.3	KPNA3	49171461	49265058		Zhang, H.  et al. 2006	16644122				Karyopherin alpha 3 (importin alpha 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035090		China	CDC GDP info	3839	Hs.527919			Neurosci Lett    2006	A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia		601892		CDC	2006												
150618		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	12	12p12.1	KRAS	25249446	25295130		Ritter, M.  et al. 2004	15531466				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Haematologica    2004    89(11)    1397-9	Prognostic significance of N-RAS and K-RAS mutations in 232 patients with acute myeloid leukemia		190070		CDC	2004												
150619	N	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130			16139926				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Lung Cancer    2005    50(3)    339-46	Is there a prognostic role of K-ras point mutations in the serum of patients with advanced non-small cell lung cancer?		190070		CDC	2005	there were no significant differences between the patients with K-ras mutations and those with wild-type genotype with respect to baseline patient characteristics, response rates, progression-free survival, or overall survival.		chemotherapy									
150621	Y	breast cancer colorectal cancer stomach cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms	12	12p12.1	KRAS	25249446	25295130		Lee, J. W.  et al. 2006	16397024				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Clin Cancer Res    2006    12(1)    57-61	Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas		190070		CDC	2006	This study showed that in addition to lung adenocarcinomas, ERBB2 kinase domain mutation occurs in other common human cancers such as gastric, breast, and colorectal cancers, and suggested that alterations of ERBB2-mediated signaling pathway by ERBB2 mutations alone or together with K-RAS mutations may contribute to the development of human cancers.											
150622	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Cell Transformation, Neoplastic	12	12p12.1	KRAS	25249446	25295130		Barry, E. L.  et al. 2006	16456810				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Cancer    2006	K-ras mutations in incident sporadic colorectal adenomas		190070		CDC	2006	"Compared with previous studies, the current analysis was novel, because it focused on incident adenomas that were diagnosed within a few years of a previous ""clean"" colonoscopy. The results provided evidence for a very low rate of K-ras mutation among these small, early adenomas and strong support for a role of K-ras mutations in adenoma progression."											
150623		leukemia, lymphoid	CANCER	CAN	Burkitt Lymphoma|Leukemia, B-cell, Acute|Leukemia, Lymphocytic, Acute, L1|Noonan Syndrome|Down Syndrome	12	12p12.1	KRAS	25249446	25295130			16533526				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Leuk Res    2006	PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia		190070		CDC	2006												
150624	Y	colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Lievre, A.  et al. 2006	16618717				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Cancer Res    2006    66(8)    3992-5	KRAS Mutation Status Is Predictive of Response to Cetuximab Therapy in Colorectal Cancer		190070		CDC	2006	in this study, KRAS mutations are a predictor of resistance to cetuximab therapy and are associated with a worse prognosis.		cetuximab									
150625		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Alsop, K.  et al. 2006	16765042				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Eur J Cancer    2006	Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years		190070		CDC	2006												
150627		bladder cancer leukemia lung cancer upper aerodigestive tract cancer	CANCER	CAN	Leukemia|Lung Neoplasms|Urinary Bladder Neoplasms	12	12p12.1	KRAS	25249446	25295130		Gormally, E. et. al.  et al. 2006	16818665				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2	European		CDC GDP info	3845	Hs.505033			Cancer Res    2006    66(13)    6871-6876	TP53 and KRAS2 Mutations in Plasma DNA of Healthy Subjects and Subsequent Cancer Occurrence		190070		CDC	2006			smoking (tobacco)									
150628	N	colorectal cancer	CANCER	CAN	Colonic Neoplasms|Rectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Bongaerts, B. W.  et al. 2006	16905440				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2		Netherlands	CDC GDP info	3845	Hs.505033			Alcohol    2006    38(3)    147-54	Alcohol and the risk of colon and rectal cancer with mutations in the K-ras gene		190070		CDC	2006			alcohol									
150629		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	12	12p12.1	KRAS	25249446	25295130		Zhao, Z. Z.  et al. 2006	16973828				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2		Queensland	CDC GDP info	3845	Hs.505033			Mol Hum Reprod    2006	KRAS variation and risk of endometriosis		190070		CDC	2006												
150631		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ichihara, S.  et al. 2006	17192902				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Int J Cancer    2006	The impact of epidermal growth factor receptor gene status on gefitinib-treated Japanese patients with non-small-cell lung cancer		190070		CDC	2006			gefitinib									
150632		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Microsatellite Instability	12	12p12.1	KRAS	25249446	25295130		Ogino, S.  et al. 2007	17270239				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Hum Pathol    2007	TGFBR2 mutation is correlated with CpG island methylator phenotype in microsatellite instability-high colorectal cancer		190070		CDC	2007	TGFBR2 mutation is associated with CIMP-high and indirectly with RUNX3 methylation. Our findings emphasize the importance of analyzing global epigenomic status (for which CIMP status is a surrogate marker) when correlating a single epigenetic event (eg, RUNX3 methylation) with any other molecular or clinicopathologic variables.											
150633		lung cancer	PHARMACOGENOMIC	PHARM		12	12p12.1	KRAS	25249446	25295130		Liu, F.  et al. 2007	17285540				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    31-4	Mutational analysis of EGFR and K-RAS in Chinese patients with non-small cell lung cancer.		190070		CDC	2007	The data suggest that mutation frequency of EGFR in NSCLCs from Chinese patients is higher than that of western ethnicities, such mutations are well correlated with tumor response to gefitinib, and gefitinib is more fit for Chinese NSCLC patients.		gefitinib									
150634		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Bae, N. C.  et al. 2007	17321325				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2	Korean		CDC GDP info	3845	Hs.505033			Cancer Genet Cytogenet    2007    173(2)    107-13	EGFR, ERBB2, and KRAS mutations in Korean non-small cell lung cancer patients		190070		CDC	2007												
150635		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Lee, J.  et al. 2007	17354229				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Cancer    2007	Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma		190070		CDC	2007	The incidence of somatic mutations in the tyrosine kinase domains of EGFR was very low and the increased gene copy number of EGFR did not significantly influence survival.											
150636	P	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12p12.1	KRAS	25249446	25295130		Symvoulakis, E. K.  et al. 2007	17393356				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2	Greek		CDC GDP info	3845	Hs.505033			Int J Biol Markers    2007    22(1)    12-8	Highly conserved sequence of exon 15 BRAF gene and KRAS codon 12 mutation among Greek patients with colorectal cancer		190070		CDC	2007	Despite the limited study sample, our data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas.											
150637		lung cancer	CANCER	CAN	Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		Zhang, W.  et al. 2006	17409930				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			J Thorac Oncol    2006    1(7)    635-47	Mutation and polymorphism in the EGFR-TK domain associated with lung cancer		190070		CDC	2006	EGFR-TK mutation frequency is high in never-smoking lung cancer patients and is exclusive of mutation in K-ras but not p53. In addition to somatic EGFR-TK mutations that arise in lung tumors, germline variation in the EGFR-TK domain might also be associated with an increased risk of lung cancer. Somatic EGFR-TK mutations alter cell biology and response to EGFR-TKIs and may be mutation specific.		smoking smoking (tobacco)									
150638		colorectal cancer endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms	12	12p12.1	KRAS	25249446	25295130		Ollikainen, M.  et al. 2007	17471559				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Int J Cancer    2007	Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma		190070		CDC	2007												
150640	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Disease Progression	12	12p12.1	KRAS	25249446	25295130		Massarelli, E.  et al. 2007	17504988				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Clin Cancer Res    2007    13(10)    2890-2896	KRAS Mutation Is an Important Predictor of Resistance to Therapy with Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small-Cell Lung Cancer		190070		CDC	2007	KRAS mutation should be included as indicator of resistance in the panel of markers used to predict response to EGFR-TKIs in NSCLC.											
150641		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Morales, E.  et al. 2007	17568059				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			J Epidemiol Community Health    2007    61(7)    641-649	Food and nutrient intakes and K-ras mutations in exocrine pancreatic cancer		190070		CDC	2007	Results support the hypothesis that in EPC exposure to specific dietary components or contaminants may influence the occurrence or persistence of K-ras mutations.		dairy consumption									
150642	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	12	12q13	KRT8	51577237	51585127		Tao, G. Z.  et al. 2007	17509943				Keratin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002273.2			CDC GDP info	3856	Hs.533782			Clin Gastroenterol Hepatol    2007	Analysis of Keratin Polypeptides 8 and 19 Variants in Inflammatory Bowel Disease		148060		CDC	2007	KRT8 and KRT19 variants are not overtransmitted or associated with familial IBD, although a potential role in sporadic IBD cannot be excluded.											
150644	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	X	Xq28	L1CAM	152780580	152804778		Deluca, G. C.  et al. 2007	17420921				L1 cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000425.2			CDC GDP info	3897	Hs.522818			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		308840		CDC	2007												
150645		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	12	12p13.32	LAG3	6751930	6757882			16519819				Lymphocyte-activation gene 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002286.4			CDC GDP info	3902	Hs.409523			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		153337		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
150646		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12p13.32	LAG3	6751930	6757882		Lundmark, F.  et al. 2006	17020785				Lymphocyte-activation gene 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002286.4		Finland|Denmark|Norway|Sweden	CDC GDP info	3902	Hs.409523			J Neuroimmunol    2006	Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations		153337		CDC	2006	these genes are of minor importance in regard of genetic predisposition to the MS.											
150647	Y	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Disease Progression|Genetic Predisposition to Disease	3	3p21	LAMB2	49133551	49145603 		Hinkes, B. G.  et al. 2007	17371932				Laminin, beta 2 (laminin S)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002292	European	Europe	CDC GDP info	3913	Hs.439726			Pediatrics    2007	Nephrotic Syndrome in the First Year of Life				CDC	2007	First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2).											
150649		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11-q21.3	LASP1	34279893	34331541		Stone, J. L.  et al. 2007	17376794				LIM and SH3 protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006148	Caucasian		CDC GDP info	3927	Hs.548018			Hum Mol Genet    2007	High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17		602920		CDC	2007												
150651		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	16	16q22.1	LCAT	66531287	66535516			16542392				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	Caucasian		CDC GDP info	3931	Hs.387239			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		606967		CDC	2006												
150652	N	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		16	16q22.1	LCAT	66531287	66535516		Bauerfeind, A.  et al. 2006	16770077				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	Caucasian;German		CDC GDP info	3931	Hs.387239			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		606967		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
150653		cerebral infarct, atherosclerotic	CARDIOVASCULAR	CARD		16	16q22.1	LCAT	66531287	66535516		Zhu, X.  et al. 2006	16883530				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDP info	3931	Hs.387239			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    419-22	Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction.		606967		CDC	2006	The LCAT 608C/T polymorphism is possibly a predisposing factor in ACI happening of Chinese Han population. T allele frequency is possibly concerned with the metabolism of HDL-C.											
150655	Y	atherosclerosis, coronary cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	16	16q22.1	LCAT	66531287	66535516		Pare, G.  et al. 2007	17357073				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1	Quebec		CDC GDP info	3931	Hs.387239			Am J Hum Genet    2007    80(4)    673-82	Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol		606967		CDC	2007												
150656		lactase persistence	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Ingram, C. J.  et al. 2006	17120047				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	European		CDC GDP info	3938	Hs.551506			Hum Genet    2006	A novel polymorphism associated with lactose tolerance in Africa		603202		CDC	2006												
150657		hypolactasia	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Schirru, E.  et al. 2007	17311063				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	European;Sardinian		CDC GDP info	3938	Hs.551506			Eur J Clin Nutr    2007	Genetic testing improves the diagnosis of adult type hypolactasia in the Mediterranean population of Sardinia		603202		CDC	2007	s:Sardinians, unlike some ethnic groups in sub-Saharan Africa, show the same genetic association of hypolactasia with the C/T-13910 variant as other North-European populations. The genetic testing for the C/T-13910 variant may contribute to improving the diagnosis of adult type hypolactasia.European Journal of Clinical Nutrition advance online publication, 21 February 2007; doi:10.1038/sj.ejcn.1602638.											
150658		hypolactasia	METABOLIC	MET	Lactose Intolerance|Genetic Predisposition to Disease	2	2q21	LCT	136261884	136311220		Almon, R.  et al. 2007	17327935				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	Caucasian	Sweden	CDC GDP info	3938	Hs.551506			Scand J Gastroenterol    2007    42(2)    165-70	Prevalence and trends in adult-type hypolactasia in different age cohorts in Central Sweden diagnosed by genotyping for the adult-type hypolactasia-linked LCT -13910C > T mutation		603202		CDC	2007	The overall prevalence of AtH in children (14%) was higher than previously thought. Among Caucasians, higher figures were seen in children than in the elderly (9% versus 6.8%). The prevalence thus seems to be increasing and this may be due to the immigration of both non-Caucasian and Caucasian groups with a higher prevalence of AtH.											
150659	Y	lactose intolerance	METABOLIC	MET	Lactose Intolerance	2	2q21	LCT	136261884	136311220		Kerber, M.  et al. 2007	17574225				Lactase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002299.2	European		CDC GDP info	3938	Hs.551506			Clin Chim Acta    2007	Hydrogen breath testing versus LCT genotyping for the diagnosis of lactose intolerance		603202		CDC	2007	Genetic analysis of LCT-13910 C/T and LCT-22018 G/A is a good indicator for the presence of lactose intolerance. Because age, as well as a number of secondary causes (e.g. celiac disease), can influence HBT results, it is useful to combine HBT and genetic analysis in the diagnostic assessment of IBS.											
150660		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17q25.1	LDLB				Corder, E. H.  et al. 2006	16608402				component of oligomeric golgi complex 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AB037802			CDC GDP info	9382	Hs.283109			Rejuvenation Res    2006    9(1)    89-93	Membership in genetic groups predicts Alzheimer disease		606973		CDC	2006												
150661			CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19p13.3	LDLR	11061131	11105490		Moral, P.  et al. 2003	14746139				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	European		CDC GDP info	3949	Hs.213289			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		606945		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
150662	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Wang, C.  et al. 2006	16459141				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		China	CDC GDP info	3949	Hs.213289			Int J Hyg Environ Health    2006    209(3)    265-73	Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk		606945		CDC	2006	The results suggested that both apoE and apoCI on chromosome 19 were the susceptibility locus for CAD, their linkage disequilibrium should be responsible for the development of CAD.		alcohol smoking (tobacco)									
150663		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Depboylu, C.  et al. 2006	16650578				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2		Germany	CDC GDP info	3949	Hs.213289			Neurosci Lett    2006	alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease		606945		CDC	2006												
150664	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Bauerfeind, A.  et al. 2006	16770077				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Caucasian;German		CDC GDP info	3949	Hs.213289			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		606945		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
150666	N	gallstones	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Dixit, M.  et al. 2006	16837242				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDP info	3949	Hs.213289			Hepatol Res    2006	Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease		606945		CDC	2006	LRPAP1, II genotype carrier females may have increased risk for gallstone disease.											
150667	Y	cirrhosis hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Viremia|Liver Cirrhosis|Genetic Predisposition to Disease	19	19p13.3	LDLR	11061131	11105490		Li, H.  et al. 2006	16927291				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDP info	3949	Hs.213289			J Med Virol    2006    78(10)    1289-1295	Association of genetic polymorphism of low-density lipoprotein receptor with chronic viral hepatitis C infection in Han Chinese		606945		CDC	2006												
150668		heart disease, ischemic hypercholesterolemia	PHARMACOGENOMIC	PHARM	Coronary Disease|Hyperlipoproteinemia Type II	19	19p13.3	LDLR	11061131	11105490		Humphries, S. E.  et al. 2006	17142622				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDP info	3949	Hs.213289			J Med Genet    2006    43(12)    943-9	Genetic causes of familial hypercholesterolaemia in patients in the UK		606945		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.		statins									
150669	Y	cholesterol, LDL	METABOLIC	MET		19	19p13.3	LDLR	11061131	11105490		Zhu, H.  et al. 2007	17517690				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2	Caucasian		CDC GDP info	3949	Hs.213289			Hum Mol Genet    2007	A Common Polymorphism Decreases Low-Density Lipoprotein Receptor Exon 12 Splicing Efficiency and Associates with Increased Cholesterol		606945		CDC	2007												
150671	Y	asthma atopy IgE	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity	1	1q21.3	LELP1	151442542	151444220		Sharma, M.  et al. 2007	17387579				Late cornified envelope-like proline-rich 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=DB096101			CDC GDP info	149018	Hs.125785			J Hum Genet    2007    52(4)    378-83	Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels		611042		CDC	2007												
150672		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		7	7q31.3	LEP	127668566	127684917		Comings, D. E.  et al. 2000	11140838				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		164160		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
150673			NORMALVARIATION	NV		7	7q31.3	LEP	127668566	127684917		Hamajima, N.  et al. 2002	12164325				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		164160		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150674		obesity	METABOLIC	MET	Obesity|Obesity, Morbid	7	7q31.3	LEP	127668566	127684917		Wang, T. N.  et al. 2006	16571841				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Obes Res    2006    14(2)    183-7	G-2548A Polymorphism of the Leptin Gene Is Correlated with Extreme Obesity in Taiwanese Aborigines		164160		CDC	2006												
150676	Y	heart disease risk factors hypertension leptin obesity	CARDIOVASCULAR	CARD	Obesity	7	7q31.3	LEP	127668566	127684917		Hinuy, H. M.  et al. 2006	16762576	LEP 3'HVR			Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	Brazilian		CDC GDP info	3952	Hs.194236			Mol Genet Metab    2006	LEP 3'HVR is associated with obesity and leptin levels in Brazilian individuals		164160		CDC	2006												
150677		Behcet's disease	IMMUNE	IMM	Behcet Syndrome	7	7q31.3	LEP	127668566	127684917		Okudan, N.  et al. 2006	16786343				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Arch Dermatol Res    2006	Evaluation of leptin level and Ob gene polymorphism in patients with Behcet's disease		164160		CDC	2006												
150678		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Portoles, O.  et al. 2006	17031518			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1		Spain	CDC GDP info	3952	Hs.194236			Eur J Epidemiol    2006    21(8)    605-12	Effect of genetic variation in the leptin gene promoter and the leptin receptor gene on obesity risk in a population-based case-control study in Spain		164160		CDC	2006	the -2548G > A polymorphism is not a relevant obesity marker in this Mediterranean population, although Q223R does seen to be so.											
150680		eating patterns	PSYCH	PSY	Obesity	7	7q31.3	LEP	127668566	127684917		de Krom, M.  et al. 2007	17192493				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1	European		CDC GDP info	3952	Hs.194236			Diabetes    2007    56(1)    276-80	Common Genetic Variations in CCK, Leptin, and Leptin Receptor Genes Are Associated With Specific Human Eating Patterns		164160		CDC	2007	we identified common allelic variants specifically associated with distinctly different eating patterns, namely extreme snacking behavior or excessive portion size.											
150682		body mass	METABOLIC	MET	Obesity	7	7q31.3	LEP	127668566	127684917		Bouchard, L.  et al. 2007	17299381				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Int J Obes (Lond)    2007	Contribution of several candidate gene polymorphisms in the determination of adiposity changes		164160		CDC	2007	This study suggests that models including genetic information from several candidate gene polymorphisms can significantly contribute to the changes in adiposity over time, that different genes may act at different ages and that genetic information could be useful for the identification of individuals at high risk for gaining body fat over time.											
150683	Y	weight gain	PHARMACOGENOMIC	PHARM	Chronic Disease|Weight Gain|Schizophrenia	7	7q31.3	LEP	127668566	127684917		Zhang, X. Y.  et al. 2007	17502770			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			J Clin Psychopharmacol    2007    27(3)    246-251	Association of Clozapine-Induced Weight Gain With a Polymorphism in the Leptin Promoter Region in Patients With Chronic Schizophrenia in a Chinese Population		164160		CDC	2007			clozapine									
150684	Y	body mass leptin obesity	METABOLIC	MET	Atherosclerosis|Obesity	7	7q31.3	LEP	127668566	127684917		Hart Sailors, M. L.  et al. 2007	17587397				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Diabetes Obes Metab    2007    9(4)    548-557	Genetic variation and decreased risk for obesity in the Atherosclerosis Risk in Communities Study		164160		CDC	2007	These results suggest that variation within the LEP and MC4R genes is associated with reduced risk for obesity in females.											
150685	N	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1p31	LEPR	65658905	65875410			16522905				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		601007		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
150686		obesity	METABOLIC	MET	Obesity|Obesity, Morbid	1	1p31	LEPR	65658905	65875410		Wang, T. N.  et al. 2006	16571841				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Obes Res    2006    14(2)    183-7	G-2548A Polymorphism of the Leptin Gene Is Correlated with Extreme Obesity in Taiwanese Aborigines		601007		CDC	2006												
150688	N	liver disease, nonalcoholic fatty	OTHER	OTH	Fatty Liver	1	1p31	LEPR	65658905	65875410		Chen, S. H.  et al. 2006	16792872	Lys109Arg			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Zhonghua Gan Zang Bing Za Zhi    2006    14(6)    453-5	Evaluation of leptin receptor Lys109Arg polymorphism in patients with non-alcoholic fatty liver disease.		601007		CDC	2006	Leptin receptor Lys109Arg polymorphism may be involved in the regulation of distribution of abdominal wall fat thickness and cholesterol metabolism.											
150690	N	obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Mergen, H.  et al. 2006	17124363				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Endocr J    2006	LEPR, ADBR3, IRS-1 and 5-HTT Genes Polymorphisms do not Associate with Obesity		601007		CDC	2006												
150691		eating patterns	PSYCH	PSY	Obesity	1	1p31	LEPR	65658905	65875410		de Krom, M.  et al. 2007	17192493				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	European		CDC GDP info	3953	Hs.23581			Diabetes    2007    56(1)    276-80	Common Genetic Variations in CCK, Leptin, and Leptin Receptor Genes Are Associated With Specific Human Eating Patterns		601007		CDC	2007	we identified common allelic variants specifically associated with distinctly different eating patterns, namely extreme snacking behavior or excessive portion size.											
150692	N	hyperphagia obesity	METABOLIC	MET	Metabolism, Inborn Errors|Obesity|Hypogonadism|Immunologic Deficiency Syndromes|Hyperphagia	1	1p31	LEPR	65658905	65875410		Farooqi, I. S. et al  et al. 2007	17229951				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			N Engl J Med    2007    356(3)    237-47	Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor		601007		CDC	2007	The prevalence of pathogenic LEPR mutations in a cohort of subjects with severe, early-onset obesity was 3%. Circulating levels of leptin were not disproportionately elevated, suggesting that serum leptin cannot be used as a marker for leptin-receptor deficiency. Congenital leptin-receptor deficiency should be considered in the differential diagnosis in any child with hyperphagia and severe obesity in the absence of developmental delay or dysmorphism.											
150693	Y	body mass obesity	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Chen, Z.  et al. 2006	17415990				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(12)    1078-81	Study on the relationship between Gln223arg variant in leptin receptor gene and obesity		601007		CDC	2006	These data indicated that Gln223Arg variant in LEPR gene was possibly associated with obesity, respectively.											
150694	Y	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	1	1p31	LEPR	65658905	65875410		Gallicchio, L.  et al. 2007	17428620				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Caucasian		CDC GDP info	3953	Hs.23581			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		601007		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
150695		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	22	22q12-q13	LGALS2	36296198	36305970		Asselbergs, F. W.  et al. 2006	17040205				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2			CDC GDP info	3957	Hs.531776			Clin Sci (Lond)    2006	Effects of lymphotoxin-alpha gene and galectin 2 gene polymorphisms on inflammatory biomarkers, cellular adhesion molecules, and risk of coronary heart disease		150571		CDC	2006												
150697	N	atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	22	22q12-q13	LGALS2	36296198	36305970		Kimura, A.  et al. 2007	17493152				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2	Japanese;Korean		CDC GDP info	3957	Hs.531776			Tissue Antigens    2007    69(3)    265-9	Lack of association between LTA and LGALS2 polymorphisms and myocardial infarction in Japanese and Korean populations		150571		CDC	2007												
150698	N	myocardial infarct	CARDIOVASCULAR	CARD		22	22q12-q13	LGALS2	36296198	36305970		Sedlacek, K.  et al. 2007	17497114				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2	Japanese;European;German		CDC GDP info	3957	Hs.531776			J Mol Med    2007	Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations		150571		CDC	2007												
150699	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	22	22q12-q13	LGALS2	36296198	36305970		Koch, W.  et al. 2007	17517687				Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2	Japanese;European		CDC GDP info	3957	Hs.531776			Hum Mol Genet    2007	Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans		150571		CDC	2007												
150700	N	thyroid cancer	CANCER	CAN		14	14q21-q22	LGALS3	54665624	54681901		Martins, L.  et al. 2006	17221114				Lectin, galactoside-binding, soluble, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209391			CDC GDP info	3958	Hs.531081			Arq Bras Endocrinol Metabol    2006    50(6)    1075-81	Polymorphism on codon 98 of the galectin-3 gene are not associated to benign and nalignant thyroid tumors.		153619		CDC	2006	no association between LGALS3 T98P genotype and the phenotype of the benign or malignant thyroid tumor was observed.											
150702	Y	infertility, female	REPRODUCTION	REP	Infertility, Female|Genetic Predisposition to Disease	19	19q13.32	LHB	54211048	54212159			16410673			promoter	Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2	Japanese;Finnish		CDC GDP info	3972	Hs.154704			Endocr J    2005    52(6)    781-4	Association of Common LH Variant with Hyperfunctional Promoter in a Japanese Infertile Woman		152780		CDC	2005												
150703		prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.32	LHB	54211048	54212159		Cunningham, J. M.  et al. 2007	17507624				Luteinizing hormone beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000894.2			CDC GDP info	3972	Hs.154704			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		152780		CDC	2007												
150704		ovarian hyperstimulation syndrome	REPRODUCTION	REP	Ovarian Hyperstimulation Syndrome|Iatrogenic Disease	2	2p21	LHCGR	48767416	48836367		Kerkela, E.  et al. 2006	17074323				Luteinizing hormone/choriogonadotropin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000233.2			CDC GDP info	3973	Hs.468490			Fertil Steril    2006	Exclusion of coding-region mutations in luteinizing hormone and follicle-stimulating hormone receptor genes as the cause of ovarian hyperstimulation syndrome		152790		CDC	2006	LHR and FSHR coding polymorphisms are not a major cause of severe OHSS in Swedish patients.											
150706	Y	infertility, female	REPRODUCTION	REP	Infertility, Female	22	22q12.2	LIF	28966442	28972748			16545901				Hypothetical protein MGC20647	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002309.2			CDC GDP info	3976	Hs.2250			Eur J Obstet Gynecol Reprod Biol    2006	Leukemia inhibitory factor gene mutations in the population of infertile women are not restricted to nulligravid patients		159540		CDC	2006	The results suggest that the LIF gene mutations affect fertility.											
150707	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	LIG1	53310514	53365372		Sobti, R. C.  et al. 2006	16907646				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1	Indian		CDC GDP info	3978	Hs.1770			DNA Cell Biol    2006    25(8)    484-489	No Association of DNA Ligase-I Polymorphism with the Risk of Lung Cancer in North-Indian Population		126391		CDC	2006												
150708		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	LIG1	53310514	53365372		Landi, S.  et al. 2006	17108146				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1			CDC GDP info	3978	Hs.1770			Cancer Res    2006    66(22)    11062-11069	DNA Repair and Cell Cycle Control Genes and the Risk of Young-Onset Lung Cancer		126391		CDC	2006												
150709		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2-q13.3	LIG1	53310514	53365372		Figueroa, J. D.  et al. 2007	17203305				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1			CDC GDP info	3978	Hs.1770			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		126391		CDC	2007												
150711	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q11.2-q12	LIG3	30331650	30356201		Zhang, Y.  et al. 2006	16492928				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2	Caucasian;Polish;Asian		CDC GDP info	3980	Hs.100299			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		600940		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
150712		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	17	17q11.2-q12	LIG3	30331650	30356201		Moreno, V.  et al. 2006	16609022				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2			CDC GDP info	3980	Hs.100299			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		600940		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
150714		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q11.2-q12	LIG3	30331650	30356201		Figueroa, J. D.  et al. 2007	17203305				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2			CDC GDP info	3980	Hs.100299			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		600940		CDC	2007												
150715		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	13	13q33-q34	LIG4	107657792	107668717			16407418				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDP info	3981	Hs.166091			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		601837		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
150717	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	13	13q33-q34	LIG4	107657792	107668717		Damaraju, S.  et al. 2006	16638864				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDP info	3981	Hs.166091			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		601837		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
150718		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	13	13q33-q34	LIG4	107657792	107668717		Hill, D. A.  et al. 2006	16857995				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDP info	3981	Hs.166091			Blood    2006	Risk of Non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes		601837		CDC	2006												
150719		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Breast Cancer Association, = Consortium  et al. 2006	17018785				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3			CDC GDP info	3981	Hs.166091			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		601837		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
150720		brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	LIMK1	73136091	73174790		Akagawa, H.  et al. 2006	16611674				LIM domain kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002314	Japanese;Korean		CDC GDP info	3984	Hs.647035			Hum Mol Genet    2006	A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms		601329		CDC	2006												
150722		Alzheimer's disease cholesterol	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23.2-q23.3	LIPA	90963309	91164362		von Trotha, K. T.  et al. 2006	16730122				Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000235.2	German		CDC GDP info	3988	Hs.127445			Neurosci Lett    2006	Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism		278000		CDC	2006												
150724		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	15	15q21-q23	LIPC	56511466	56648364			16542392				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Caucasian		CDC GDP info	3990	Hs.188630			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		151670		CDC	2006												
150725	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Bauerfeind, A.  et al. 2006	16770077				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Caucasian;German		CDC GDP info	3990	Hs.188630			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		151670		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
150726	Y	cardiac death	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Myocardial Infarction	15	15q21-q23	LIPC	56511466	56648364		Fan, Y. M.  et al. 2006	16793047	C-480T			Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Caucasian;Finnish	Finland	CDC GDP info	3990	Hs.188630			Atherosclerosis    2006	Age-dependent association between hepatic lipase gene C-480T polymorphism and the risk of pre-hospital sudden cardiac death		151670		CDC	2006	The results suggest that HL C-480T polymorphism is a strong age-dependent risk factor of SCD in early middle-aged men.											
150727		atherosclerosis, coronary cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipoproteinemia Type II|Disease Progression|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Takata, M.  et al. 2006	16822236			promoter	Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			Clin Sci (Lond)    2006	Cholesteryl ester transfer protein promoter -1337 C>T polymorphism protects against coronary atherosclerosis in Japanese patients with heterozygous familial hypercholesterolemia		151670		CDC	2006												
150729	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	15	15q21-q23	LIPC	56511466	56648364		Kokubo, Y.  et al. 2006	17137217				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		151670		CDC	2006												
150730	Y	cholesterol, HDL	METABOLIC	MET		15	15q21-q23	LIPC	56511466	56648364		Nettleton, J. A.  et al. 2006	17157861				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			Atherosclerosis    2006	Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults		151670		CDC	2006	these data show that plasma HDL-C differs according to LIPC, LPL, and CETP genotypes. In the case of LIPC and LPL, data suggest dietary fat modifies these relations.		fat									
150732		triglycerides	METABOLIC	MET	Hypertriglyceridemia|Obesity	15	15q21-q23	LIPC	56511466	56648364		Brisson, D.  et al. 2007	17342071				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	Canadian;French		CDC GDP info	3990	Hs.188630			Int J Obes (Lond)    2007	Genetic epistasis in the VLDL catabolic pathway is associated with deleterious variations on triglyceridemia in obese subjects		151670		CDC	2007	When combined with abdominal obesity, epistasis in the VLDL pathway has a deleterious effect on fasting TG and coronary artery disease risk profile according to the TG threshold (1.		obesity									
150733	Y	bone density	METABOLIC	MET	Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Yamada, Y.  et al. 2007	17390085				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			Int J Mol Med    2007    19(5)    791-801	Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men		151670		CDC	2007												
150734		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Volcik, K.  et al. 2007	17568951				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			J Stud Alcohol Drugs    2007    68(4)    485-92	Interaction effects of high-density lipoprotein metabolism gene variation and alcohol consumption on coronary heart disease risk		151670		CDC	2007	Results from the current study suggest that interaction effects between alcohol consumption and HDL cholesterol metabolism gene variation influence the risk of incident CHD in black men.		alcohol									
150735		obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Body Weight	19	19q13.2	LIPE	47597505	47623418			16534522			promoter	Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDP info	3991	Hs.95351			Int J Obes (Lond)    2006	The hormone-sensitive lipase C-60G promoter polymorphism is associated with increased waist circumference in normal-weight subjects		151750		CDC	2006	The HSL C-60G polymorphism is associated with increased waist circumference in non-obese subjects.											
150736	Y	hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	19	19q13.2	LIPE	47597505	47623418		Bernard, N.  et al. 2007	17318300				Lipase, hormone-sensitive	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005357.2			CDC GDP info	3991	Hs.95351			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		151750		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
150737		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	18	18q21.1	LIPG	45342424	45373276		Yamaguchi, S.  et al. 2006	17016617				Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2			CDC GDP info	9388	Hs.465102			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		603684		CDC	2006												
150739	P	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	16	16p13.13	LITAF	11549356	11588823		Song, S.  et al. 2006	16912585				Lipopolysaccharide-induced TNF factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004862			CDC GDP info	9516	Hs.459940			Genet Med    2006    8(8)    532-5	Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients		603795		CDC	2006	The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population.											
150740		cholesterol diabetes, type 2 height obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Wegner, L.  et al. 2007	17327437				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	Danish		CDC GDP info	4000	Hs.491359			Diabetes    2007    56(3)    694-8	Common Variation in LMNA Increases Susceptibility to Type 2 Diabetes and Associates With Elevated Fasting Glycemia and Estimates of Body Fat and Height in the General Population		150330		CDC	2007												
150741		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Owen, K. R.  et al. 2007	17327460				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1	1. UK case-control 2. International 1q Consortium 		CDC GDP info	4000	Hs.491359			Diabetes    2007    56(3)    879-83	Common Variation in the LMNA Gene (Encoding Lamin A/C) and Type 2 Diabetes		150330		CDC	2007												
150743	N	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	1	1q32	LMOD1	200132206	200182339		Lane, H. Y.  et al. 2006	16633140				Leiomodin 1 (smooth muscle)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK127212			CDC GDP info	25802	Hs.519075			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain				CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
150745	N	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	3	3p14.1	LMOD3	69238729	69254436		Lane, H. Y.  et al. 2006	16633140				Leiomodin 3 (fetal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL832033			CDC GDP info	56203	Hs.350621			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain				CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
150746	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	15	15q24-q25|15q22	LOXL1	72005841	72031531		Akagawa, H.  et al. 2007	17287949				Lysyl oxidase-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC068542			CDC GDP info	4016	Hs.65436			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		153456		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
150747	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	8		LOXL2	23210354	23317667		Akagawa, H.  et al. 2007	17287949				Lysyl oxidase-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	4017	Hs.626637			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		606663		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
150748	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	2	2p13	LOXL3	74613453	74634570		Akagawa, H.  et al. 2007	17287949				Lysyl oxidase-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032603			CDC GDP info	84695	Hs.591563			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		607163		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
150749	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	10		LOXL4	99997432	100017997		Akagawa, H.  et al. 2007	17287949				Lysyl oxidase-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032211.6			CDC GDP info	84171	Hs.306814			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		607318		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
150750		coronary artery disease	CARDIOVASCULAR	CARD		6	6q26-q27	LPA	160872504	161007397		Simo, J. M.  et al. 2001	11466545				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDP info	4018	Hs.520120			J Mol Med    2001    79(5/6)    294-299	Polymorphisms in human apolipoprotein(a) kringle IV-10 and coronary artery disease		152200		CDC	2001	The W81R was not found in our sample, but the M75T mutation was present in 43% of patients with coronary artery disease and 23% of age-matched controls. The genotype TT conferred a significant risk for myocardial infarction (odds ratio 2.53). This association was not due to linkage disequilibrium with kringle IV repeats. The M75T polymorphism was not associated with the LBS function of apo(a), but it influenced plasma Lp(a) concentration. 											
150751			CARDIOVASCULAR	CARD	Cardiovascular Diseases	6	6q26-q27	LPA	160872504	161007397		Moral, P.  et al. 2003	14746139				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	European		CDC GDP info	4018	Hs.520120			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		152200		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
150752		lipoprotein	METABOLIC	MET	Kidney Failure, Chronic	6	6q26-q27	LPA	160872504	161007397		Chretie, J. P.  et al. 2006	16840570				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	African American;European		CDC GDP info	4018	Hs.520120			J Med Genet    2006	Three single-nucleotide polymorphisms in LPA account for the majority of lipoprotein(A) level elevation in African Americans compared to European Americans		152200		CDC	2006	Multiple low-prevalence alleles in LPA can account for the large between-population difference in serum Lp(a) levels between European Americans and African Americans.											
150753	Y	atherosclerosis, coronary lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6q26-q27	LPA	160872504	161007397		Luke, M. M.  et al. 2007	17569884				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1			CDC GDP info	4018	Hs.520120			Arterioscler Thromb Vasc Biol    2007	A Polymorphism in the Protease-Like Domain of Apolipoprotein(a) Is Associated With Severe Coronary Artery Disease		152200		CDC	2007	The LPA I4399M SNP is associated with severe CAD and plasma lipoprotein(a) levels.											
150754		lipoprotein	METABOLIC	MET		6	6q26-q27	LPA	160872504	161007397		Sofi, F.  et al. 2007	17603063				Lipoprotein, Lp(a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005577.1	Italian		CDC GDP info	4018	Hs.520120			Atherosclerosis    2007	Fish intake and LPA 93C>T polymorphism		152200		CDC	2007	this study reported a significant interaction of daily fish intake and LPA 93C>T polymorphism in decreasing Lp(a) concentrations.		fish									
150755		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Burdon, K. P.  et al. 2005	16141008				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	European		CDC GDP info	4023	Hs.180878			J Med Genet    2005    42(9)    720-4	Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study		609708		CDC	2005	There is evidence for modest, but significant, association of multiple single nucleotide polymorphisms in lipid genes with measures of subclinical CVD.											
150757	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Stenosis	8	8p22	LPL	19841057	19869049		Elosua, R.  et al. 2006	16430904				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Atherosclerosis    2006	Association between well-characterized lipoprotein-related genetic variants and carotid intimal medial thickness and stenosis		609708		CDC	2006	While there is no evidence for a significant association of several common lipoprotein-related genetic variants with carotid IMT, our results are consistent with the previously reported role of CETP and LPL genetic variants in cardiovascular risk and the possible modulation of the association between hypertension and carotid IMT by APOCIII Sst-1 variant.											
150758		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	8	8p22	LPL	19841057	19869049			16542392				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian		CDC GDP info	4023	Hs.180878			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		609708		CDC	2006												
150759	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	8	8p22	LPL	19841057	19869049			16544732	LPL (93G, 291Ser, 447ter)			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	French;Israeli		CDC GDP info	4023	Hs.180878			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		609708		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
150761		cholesterol, HDL triglycerides	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Thu, N. N.  et al. 2006	16702309				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian;Vietnamese;Asian		CDC GDP info	4023	Hs.180878			J Nutr    2006    136(6)    1488-92	Plasma Triglyceride and HDL-Cholesterol Concentrations in Vietnamese Girls Are Affected by Lipoprotein Lipase, but Not Apolipoprotein CIII Polymorphism		609708		CDC	2006												
150762	Y	diabetes, type 2 dyslipidemia heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2|Dyslipidemias	8	8p22	LPL	19841057	19869049		Hu, Y.  et al. 2006	16741292				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			J Lipid Res    2006	A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases		609708		CDC	2006	standardized mean difference (SMD) of plasma triglyceride (TG) for carriers compared with noncarriers of the Asn291Ser variant was 3.											
150763	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Klos, K. L.  et al. 2006	16763159				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		609708		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
150764	N	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Bauerfeind, A.  et al. 2006	16770077				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian;German		CDC GDP info	4023	Hs.180878			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		609708		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
150765		cholesterol cholesterol, LDL lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	8	8p22	LPL	19841057	19869049		Choumerianou, D. M.  et al. 2006	16776623				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Clin Chem Lab Med    2006    44(7)    799-806	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia		609708		CDC	2006	These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.											
150766		atherosclerosis, coronary cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Socquard, E.  et al. 2006	16799404				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian		CDC GDP info	4023	Hs.180878			Diabetes Metab    2006    32(3)    262-9	.Association of HindIII and PvuII genetic polymorphisms of lipoprotein lipase with lipid metabolism and macrovascular events in type 2 diabetic patients		609708		CDC	2006	Thus, HindIII and PvuII polymorphisms seem to exert a modulating role on lipid profile particularly in male D2, contributing to increase the risk of macrovascular events.											
150768	N	gallstones	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Dixit, M.  et al. 2006	16837242				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Hepatol Res    2006	Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease		609708		CDC	2006	LRPAP1, II genotype carrier females may have increased risk for gallstone disease.											
150769		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia	8	8p22	LPL	19841057	19869049		Huang, M. C.  et al. 2006	16864937				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		Taiwan	CDC GDP info	4023	Hs.180878			Circ J    2006    70(8)    1030-6	Effect of SstI Polymorphism of the Apolipoprotein CIII Gene and Environmental Factors on Risks of Hypertriglyceridemia in Taiwan Aborigines		609708		CDC	2006	The ApoCIII S2 variant and environmental factors, including education, tribal background, BMI and starchy food intake, modulate the risks of HTG in aboriginal Taiwanese.		body mass diet									
150770		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Yamada, Y.  et al. 2006	16894468				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Thromb Haemost    2006    96(2)    220-7	Assessment of genetic risk for myocardial infarction		609708		CDC	2006												
150771		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	8	8p22	LPL	19841057	19869049		Blain, J. F.  et al. 2006	16965549				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Canadian	Canada	CDC GDP info	4023	Hs.180878			Eur J Neurosci    2006	A polymorphism in lipoprotein lipase affects the severity of Alzheimer's disease pathophysiology		609708		CDC	2006												
150772	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	8	8p22	LPL	19841057	19869049		Manresa, J. M.  et al. 2006	17001213	LPL-HindIII			Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Eur J Cardiovasc Prev Rehabil    2006    13(5)    738-744	Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease		609708		CDC	2006	Three of the genetic variants analysed, PPAR-alpha-L162V, LPL-HindIII, and TNF-alpha-G-308A, were associated with non-classical risk factors, specifically lipid profile, inflammation, and oxidative status.		cardiovascular risk factors									
150773	Y	cerebral infarct, atherosclerotic cholesterol, HDL intima media thickness triglycerides	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049		Guan, G.  et al. 2006	17029199				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    519-522	Associations between Ser447Ter gene polymorphism of lipoprotein lipase and atherosclerotic cerebral infarction.		609708		CDC	2006	The Ser447Terls polymorphism of LPL gene is significantly associated with plasma lipids and CI.											
150775	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	8	8p22	LPL	19841057	19869049		Kokubo, Y.  et al. 2006	17137217				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		609708		CDC	2006												
150776	Y	cholesterol, HDL	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Nettleton, J. A.  et al. 2006	17157861				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Atherosclerosis    2006	Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults		609708		CDC	2006	these data show that plasma HDL-C differs according to LIPC, LPL, and CETP genotypes. In the case of LIPC and LPL, data suggest dietary fat modifies these relations.		fat									
150777		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Bernard, N.  et al. 2007	17318300				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		609708		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
150778		triglycerides	METABOLIC	MET	Hypertriglyceridemia|Obesity	8	8p22	LPL	19841057	19869049		Brisson, D.  et al. 2007	17342071				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Canadian;French		CDC GDP info	4023	Hs.180878			Int J Obes (Lond)    2007	Genetic epistasis in the VLDL catabolic pathway is associated with deleterious variations on triglyceridemia in obese subjects		609708		CDC	2007	When combined with abdominal obesity, epistasis in the VLDL pathway has a deleterious effect on fasting TG and coronary artery disease risk profile according to the TG threshold (1.		obesity									
150780		heart disease, ischemic	CARDIOVASCULAR	CARD	Heart Diseases|Myocardial Ischemia	8	8p22	LPL	19841057	19869049		Dyson, G.  et al. 2007	17436307				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Genet Epidemiol    2007	An application of the patient rule-induction method for evaluating the contribution of the Apolipoprotein E and Lipoprotein Lipase genes to predicting ischemic heart disease		609708		CDC	2007												
150782		cholesterol, HDL	METABOLIC	MET		8	8p22	LPL	19841057	19869049		Heidema, A. G.  et al. 2007	17615573				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Genet Epidemiol    2007	Analysis of multiple SNPs in genetic association studies		609708		CDC	2007	the application of a combination of multi-locus methods is a useful approach in genetic association studies to select a well-defined set of important SNPs for further statistical and epidemiological interpretation, providing increased confidence and more information compared with the application of only one method. Genet. Epidemiol. 2007. (c) 2007 Wiley-Liss, Inc.											
150783		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12p13	LPRP	10889748	10893319			16412323				proline rich 4 (lacrimal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=BX648418			CDC GDP info	11272	Hs.408153			Zhonghua Fu Chan Ke Za Zhi    2005    40(12)    803-7	Study of the impact of candidate genes on bone mineral density in postmenopausal women.		605359		CDC	2005	There is some association between osteoprotegerin, parathyroid hormone genes and BMD in postmenopausal women.											
150784		criminal activity	PSYCH	PSY	Antisocial Personality Disorder	12	12p13	LPRP	10889748	10893319		Sjoberg, R. L.  et al. 2006	17034017				proline rich 4 (lacrimal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=BX648418		Sweden	CDC GDP info	11272	Hs.408153			Am J Med Genet B Neuropsychiatr Genet    2006	Adolescent girls and criminal activity		605359		CDC	2006												
150786	Y	osteoarthritis	METABOLIC	MET	Chondrosarcoma|Osteoarthritis, Knee|Genetic Predisposition to Disease	13	13q14.13-q14.2	LRCH1	46025303	46223698		Spector, T. D.  et al. 2006	16447229				Leucine-rich repeats and calponin homology (CH) domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY050632	European		CDC GDP info	23143	Hs.656722			Arthritis Rheum    2006    54(2)    524-532	Association between a variation in LRCH1 and knee osteoarthritis				CDC	2006	A genetic variant in LRCH1 was consistently associated with knee OA in 3 samples from 2 populations.											
150787	N	osteoarthritis	METABOLIC	MET	Osteoarthritis, Hip|Osteoarthritis, Knee|Genetic Predisposition to Disease	13	13q14.13-q14.2	LRCH1	46025303	46223698		Snelling, S.  et al. 2006	16891653				Leucine-rich repeats and calponin homology (CH) domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY050632	Caucasian		CDC GDP info	23143	Hs.656722			Rheumatology (Oxford)    2006	Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus				CDC	2006	Our data on 2257 individuals implies that the LRCH1 intron 1 SNP is not a risk factor for OA aetiology of the knee or of the hip in our UK Caucasian sample.											
150788	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	12	12p12.1	LRMP	25096507	25152536			16410263				Lymphoid-restricted membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006152			CDC GDP info	4033	Hs.124922			Carcinogenesis    2006	A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients				CDC	2006												
150789	N	memory performance	NEUROLOGICAL	NEUR	Alzheimer Disease|Memory Disorders|Diseases in Twins	12	12q13-q14	LRP1	55808548	55893392			16402284				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDP info	4035	Hs.162757			Behav Genet    2006        1-10	Longitudinal Memory Performance During Normal Aging		107770		CDC	2006												
150790	N	Alzheimer's disease	NEUROLOGICAL	NEUR		12	12q13-q14	LRP1	55808548	55893392		Deng, Y.  et al. 2006	16606588				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDP info	4035	Hs.162757			Yi Chuan    2006    28(4)    393-8	Meta-Analysis of the Association of the LRP C766T Polymorphism with the Risk of Alzheimer's Disease.		107770		CDC	2006												
150793	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	12	12q13-q14	LRP1	55808548	55893392		Vormittag, R.  et al. 2006	17155964				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDP info	4035	Hs.162757			J Thromb Haemost    2006	Low-density lipoprotein receptor-related protein 1 (LRP1) polymorphism 663 C>T affects clotting factor VIII activity and increases the risk of venous thromboembolism		107770		CDC	2006	According to our data the LRP1 663C > T polymorphism influences plasma FVIII levels independently of blood group, C-reactive protein and von Willebrand factor and is significantly associated with the risk of VTE.											
150794			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	2	2q24-q31	LRP2	169691864	169927368		Lee, J. K.  et al. 2003	12768436				Low density lipoprotein-related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004525	Japanese;Caucasian;Korean		CDC GDP info	4036	Hs.470538			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		600073		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
150795		cisplatin toxicity	PHARMACOGENOMIC	PHARM		2	2q24-q31	LRP2	169691864	169927368		Riedemann, L.  et al. 2007	17457342				Low density lipoprotein-related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004525			CDC GDP info	4036	Hs.470538			Pharmacogenomics J    2007	Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin		600073		CDC	2007												
150797	Y	obesity	METABOLIC	MET	Obesity	11	11q13.4	LRP5	67836683	67973319		Guo, Y.  et al. 2006	16723389				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Caucasian		CDC GDP info	4041	Hs.6347			J Med Genet    2006	Polymorphisms of the Low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with obesity phenotypes in a large family-based association study		603506		CDC	2006	Intronic variants of the LRP5 gene are markedly associated with obesity.											
150798	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11q13.4	LRP5	67836683	67973319		Suwazono, Y.  et al. 2006	16754270	LRP5  Q89R			Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1		Japan	CDC GDP info	4041	Hs.6347			Blood Press    2006    15(2)    80-7	Low-density lipoprotein receptor-related protein 5 variant Q89R is associated with hypertension in Japanese females		603506		CDC	2006												
150799	N	bone density vitamin D	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11q13.4	LRP5	67836683	67973319		Zajickova, K.  et al. 2006	16958596				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Caucasian		CDC GDP info	4041	Hs.6347			Clin Chem Lab Med    2006    44(9)    1066-9	Low-density lipoprotein receptor-related protein 5 and vitamin D receptor gene polymorphisms in relation to vitamin D levels in menopause		603506		CDC	2006	VDR IVS8+443G>A polymorphism was significantly associated with circulating 25OH vitamin D in postmenopausal Caucasian women. The role of candidate gene polymorphisms in the vitamin D metabolic pathway requires further investigation.											
150800		bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Li, Y.  et al. 2006	17086708				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDP info	4041	Hs.6347			Wei Sheng Yan Jiu    2006    35(5)    576-9	Association of polymorphism of low density lipoprotein receptor-related protein 5 Q89R, A1330V with bone mineral density in premenopausal northern Chinese women		603506		CDC	2006	LRP gene polymorphism was predictor for BMD in Northern Chinese premenopausal women, BMD at various were modified by different genetic and lifestyle factors in female.											
150801	Y	sex hormones	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Zofkova, I.  et al. 2006	17087607				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Caucasian		CDC GDP info	4041	Hs.6347			Physiol Res    2006	Association of C/T polymorphism in the LRP5 gene with circulating follicle stimulating hormone in white postmenopausal women		603506		CDC	2006												
150802	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Kiel, D. P.  et al. 2007	17137849				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDP info	4041	Hs.6347			Bone    2007    40(3)    587-96	Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men		603506		CDC	2007	genetic variation in exons 10 and 18 of the LRP5 gene modulates Wnt signaling and the relationship between physical activity and BMD in men.		physical activity									
150804	Y	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	11	11q13.4	LRP5	67836683	67973319		Xiong, D. H.  et al. 2006	17241106				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDP info	4041	Hs.6347			J Bone Miner Res    2006	Low-density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene Polymorphisms Were Associated with Bone Mass in Both Chinese and Caucasians		603506		CDC	2006	Our work supported LRP5 genetic variants as possible susceptibility factors for osteoporosis and fractures in humans.											
150805	Y	bone density	METABOLIC	MET	Osteoporosis	11	11q13.4	LRP5	67836683	67973319		Ezura, Y.  et al. 2007	17306638				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Japanese;Caucasian		CDC GDP info	4041	Hs.6347			Bone    2007	Association of a single-nucleotide variation (A1330V) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) with bone mineral density in adult Japanese women		603506		CDC	2007												
150807		bone density	METABOLIC	MET	Body Weight	11	11q13.4	LRP5	67836683	67973319		Koay, M. A.  et al. 2007	17505772				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Caucasian		CDC GDP info	4041	Hs.6347			Calcif Tissue Int    2007	The Effect of LRP5 Polymorphisms on Bone Mineral Density Is Apparent in Childhood		603506		CDC	2007			puberty									
150808		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	12	12p11-p13	LRP6	12160229	12311013		De Ferrari, G. V.  et al. 2007	17517621				Low density lipoprotein receptor-related protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002336.1			CDC GDP info	4040	Hs.584775			Proc Natl Acad Sci U S A    2007	Common genetic variation within the Low-Density Lipoprotein Receptor-Related Protein 6 and late-onset Alzheimer's disease		603507		CDC	2007												
150809	Y	birth weight fetal growth	REPRODUCTION	REP	Fetal Growth Retardation|Hypertension, Pregnancy-Induced|Pre-Eclampsia	1	1p34	LRP8	53483799	53566409		Wang, L.  et al. 2006	16642433				Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004631.3			CDC GDP info	7804	Hs.576154			Am J Hum Genet    2006    78(5)    770-7	Polymorphism in Maternal LRP8 Gene Is Associated with Fetal Growth		602600		CDC	2006	results from the two independent samples of black women provide consistent evidence that SNP rs2297660 in LRP8 is associated with fetal growth.											
150811		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	4	4p16.3	LRPAP1	3484092	3503942		Depboylu, C.  et al. 2006	16650578				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1		Germany	CDC GDP info	4043	Hs.533136			Neurosci Lett    2006	alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease		104225		CDC	2006												
150812		gallstones	METABOLIC	MET	Gallstones|Genetic Predisposition to Disease	4	4p16.3	LRPAP1	3484092	3503942		Dixit, M.  et al. 2006	16704534				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1		India	CDC GDP info	4043	Hs.533136			J Gastroenterol Hepatol    2006    21(5)    847-9	Association of low density lipoprotein receptor related protein-associated protein (LRPAP1) gene insertion/deletion polymorphism with gallstone disease		104225		CDC	2006	In the present study I (insertion) allele was found to be associated with GSD.											
150813	Y	gallstones	METABOLIC	MET		4	4p16.3	LRPAP1	3484092	3503942		Dixit, M.  et al. 2006	16837242				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1			CDC GDP info	4043	Hs.533136			Hepatol Res    2006	Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease		104225		CDC	2006	LRPAP1, II genotype carrier females may have increased risk for gallstone disease.											
150815		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	15	15q26.3	LRRK1	99276982	99427840		Haugarvoll, K.  et al. 2007	17324517				Leucine-rich repeat kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024652	Norwegian	Norway	CDC GDP info	79705	Hs.407918			Neurosci Lett    2007	Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway		610986		CDC	2007												
150816		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Bras, J. M.  et al. 2005	16149095				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Portugal	CDC GDP info	120892	Hs.187636			Mov Disord    2005    20(12)    1653-5	G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort		609007		CDC	2005												
150817	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Paisan-Ruiz, C.  et al. 2006	16467219				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	European		CDC GDP info	120892	Hs.187636			J Med Genet    2006    43(2)    e9	Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium		609007		CDC	2006	To our knowledge this is the first comprehensive analysis of common variability within LRRK2 as a risk factor for PD.											
150818		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Fung, H. C.  et al. 2006	16511860				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	European		CDC GDP info	120892	Hs.187636			Mov Disord    2006	Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease		609007		CDC	2006												
150820		corticobasal ganglionic degeneration multiple system atrophy Parkinson's disease parkinsonism, atypical progressive supranuclear palsy	NEUROLOGICAL	NEUR	Multiple System Atrophy|Parkinsonian Disorders|Parkinson Disease|Supranuclear Palsy, Progressive|Spinocerebellar Degenerations	12	12q12	LRRK2	38905080	39049353		Tan, E. K.  et al. 2006	16602113				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	European		CDC GDP info	120892	Hs.187636			Mov Disord    2006	Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease		609007		CDC	2006												
150821		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Chromosome Aberrations	12	12q12	LRRK2	38905080	39049353		Williams-Gray, C. H.  et al. 2006	16614029				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			J Neurol Neurosurg Psychiatry    2006    77(5)    665-7	Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort		609007		CDC	2006												
150823	N	dementia	NEUROLOGICAL	NEUR	Dementia	12	12q12	LRRK2	38905080	39049353		Saunders-Pullman, R.  et al. 2006	16632201	LRRK2 G2019S			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Ashkenazi;Jewish		CDC GDP info	120892	Hs.187636			Neurosci Lett    2006	Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia		609007		CDC	2006												
150824	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Di Fonzo, A.  et al. 2006	16633828				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Asian		CDC GDP info	120892	Hs.187636			Neurogenetics    2006	A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan		609007		CDC	2006												
150825	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Mata, I. F.  et al. 2006	16643318				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Spanish;Spanish;European		CDC GDP info	120892	Hs.187636			Eur J Neurol    2006    13(4)    391-4	LRRK2 mutations are a common cause of Parkinson's disease in Spain		609007		CDC	2006												
150826		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Zabetian, C. P.  et al. 2006	16728648				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Japanese;European	Washington|Japan	CDC GDP info	120892	Hs.187636			Neurology    2006	Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease		609007		CDC	2006												
150827		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease|Mood Disorders	12	12q12	LRRK2	38905080	39049353		Goldwurm, S.  et al. 2006	16750929				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Italy	CDC GDP info	120892	Hs.187636			Parkinsonism Relat Disord    2006	LRRK2 G2019S mutation and Parkinson's disease		609007		CDC	2006												
150828		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Recurrence	12	12q12	LRRK2	38905080	39049353		Hedrich, K.  et al. 2006	16758483				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2006	Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease		609007		CDC	2006	LRRK2 mutations need to be considered also in early-onset PD.											
150829	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Carmine Belin, A.  et al. 2006	16817197				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2006	Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian		609007		CDC	2006	the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant.											
150831	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Tan, E. K.  et al. 2006	17019612	LRRK2 Gly2385Arg			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Singapore		CDC GDP info	120892	Hs.187636			Hum Genet    2006	The LRRK2 Gly2385Arg variant is associated with Parkinson's disease		609007		CDC	2006												
150832		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Kay, D. M.  et al. 2006	17020475				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Genet Test    2006    10(3)    221-7	Validity and Utility of a LRRK2 G2019S Mutation Test for the Diagnosis of Parkinson's Disease		609007		CDC	2006												
150833		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Pchelina, S. N.  et al. 2006	17044089	G2019S			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Ashkenazi;Jewish	Russia	CDC GDP info	120892	Hs.187636			Mov Disord    2006	G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia		609007		CDC	2006												
150834	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Clark, L. N.  et al. 2006	17050822	G2019S			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Jewish		CDC GDP info	120892	Hs.187636			Neurology    2006	Frequency of LRRK2 mutations in early- and late-onset Parkinson disease		609007		CDC	2006	The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease.											
150836		Parkinson's disease	PHARMACOGENOMIC	PHARM	Parkinsonian Disorders	12	12q12	LRRK2	38905080	39049353		Schupbach, M.  et al. 2006	17080443				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2006	Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations		609007		CDC	2006			subthalamic nucleus stimulation									
150837		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Tan, E. K.  et al. 2006	17083102				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Chinese;European		CDC GDP info	120892	Hs.187636			Mov Disord    2006	LRRK2 G2019S founder haplotype in the Chinese population		609007		CDC	2006												
150838		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Deng, H.  et al. 2006	17097110				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Hispanic ;Ashkenazi;European;Jewish;non-Hispanic		CDC GDP info	120892	Hs.187636			J Neurol Sci    2006	Genetic analysis of LRRK2 mutations in patients with Parkinson disease		609007		CDC	2006												
150839		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Ishihara, L.  et al. 2006	17115391				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Tunisian	Tunisia|North America	CDC GDP info	120892	Hs.187636			Mov Disord    2006	Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families		609007		CDC	2006												
150840		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Scholz, S.  et al. 2006	17116211				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Eur J Neurol    2006    13(12)    1298-301	LRRK2 mutations in a clinic-based cohort of Parkinson's disease		609007		CDC	2006												
150841	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Nichols, W. C.  et al. 2006	17149721	R1514Q substitution in Lrrk2			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2006	R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation		609007		CDC	2006												
150842		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Wu, T.  et al. 2006	17179858				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Neuroreport    2006    17(18)    1859-62	A novel P755L mutation in LRRK2 gene associated with Parkinson's disease		609007		CDC	2006												
150843	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Fung, H. C.  et al. 2006	17187665	LRRK2  G2385R			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2		Taiwan	CDC GDP info	120892	Hs.187636			BMC Neurol    2006    6(1)    47	A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan		609007		CDC	2006	These data suggest that the G2385R variant contributes significantly to the etiology of PD in ethnic Han Chinese individuals.											
150844	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Toft, M.  et al. 2007	17216639				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2007	Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease		609007		CDC	2007												
150845		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Xiromerisiou, G.  et al. 2007	17222106				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Greek		CDC GDP info	120892	Hs.187636			Eur J Neurol    2007    14(1)    7-11	Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease		609007		CDC	2007												
150846	N	multiple system atrophy	OTHER	OTH	Multiple System Atrophy|Parkinsonian Disorders	12	12q12	LRRK2	38905080	39049353		Ozelius, L. J.  et al. 2007	17230458				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2007	G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy		609007		CDC	2007	the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA.											
150847		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Squillaro, T.  et al. 2007	17235449				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Caucasian;Italian		CDC GDP info	120892	Hs.187636			J Hum Genet    2007	Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease		609007		CDC	2007												
150848		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Funalot, B.  et al. 2006	17253937				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	French		CDC GDP info	120892	Hs.187636			Genet Test    2006    10(4)    290-3	Genetic Screening for Two LRRK2 Mutations in French Patients with Idiopathic Parkinson's Disease		609007		CDC	2006												
150849		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Funayama, M.  et al. 2007	17314670				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Singapore;Asian	Asia|Japan	CDC GDP info	120892	Hs.187636			Neuroreport    2007    18(3)    273-275	Leucine-Rich Repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population		609007		CDC	2007												
150850		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Haugarvoll, K.  et al. 2007	17324517				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Norwegian	Norway	CDC GDP info	120892	Hs.187636			Neurosci Lett    2007	Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway		609007		CDC	2007												
150852		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Lesage, S.  et al. 2007	17353388				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	European;French		CDC GDP info	120892	Hs.187636			Arch Neurol    2007    64(3)    425-30	LRRK2 Exon 41 Mutations in Sporadic Parkinson Disease in Europeans		609007		CDC	2007	The G2019S mutation is almost as frequent in sporadic cases (1.											
150853		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Illarioshkin, S. N.  et al. 2007	17388990				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Russian		CDC GDP info	120892	Hs.187636			Eur J Neurol    2007    14(4)    413-7	A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia		609007		CDC	2007												
150854	P	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Toft, M.  et al. 2007	17419834				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Norwegian;Norwegian	Norway	CDC GDP info	120892	Hs.187636			Acta Neurol Scand Suppl    2007    187    72-5	LRRK2 and Parkinson's disease in Norway		609007		CDC	2007	LRRK2 mutations other than the Lrrk2 G2019S mutation are rare in Norway.											
150856		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Ferreira, J. J.  et al. 2007	17469194				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Portuguese		CDC GDP info	120892	Hs.187636			Mov Disord    2007	High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal		609007		CDC	2007												
150857		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Civitelli, D.  et al. 2007	17470139				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Clin Genet    2007    71(4)    367-70	LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease		609007		CDC	2007												
150858	Y	essential tremor Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Deng, H.  et al. 2007	17482357	LRKK2 P755L			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Chinese;Caucasian		CDC GDP info	120892	Hs.187636			Neurosci Lett    2007	Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease		609007		CDC	2007	LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.											
150859		dementia Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Haubenberger, D.  et al. 2007	17523199				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2007	A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease		609007		CDC	2007												
150860		Parkinson's disease	NEUROLOGICAL	NEUR		12	12q12	LRRK2	38905080	39049353		Gonzalez-Fernandez, M. C.  et al. 2007	17540608				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Parkinsonism Relat Disord    2007	Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain		609007		CDC	2007												
150861		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Perez-Pastene, C.  et al. 2007	17614198				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Spanish;European;Indian;South American		CDC GDP info	120892	Hs.187636			Neurosci Lett    2007	Lrrk2 mutations in South America		609007		CDC	2007												
150862		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11p15.5	LSP1	1830775	1870069		Easton, D. F. et al.  et al. 2007	17529967				Lymphocyte-specific protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK056576	European		CDC GDP info	4046	Hs.56729			Nature    2007	Genome-wide association study identifies novel breast cancer susceptibility loci		153432		CDC	2007												
150864			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Lee, J. K.  et al. 2003	12768436				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese;Caucasian;Korean		CDC GDP info	4049	Hs.36			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		153440		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
150866		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	6	6p21.3	LTA	31647718	31650077		Gunter, M. J.  et al. 2006	16775170				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		153440		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
150867		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		De Silvestri, A.  et al. 2006	16788244				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Dis Markers    2006    22(3)    111-7	Non classical HLA genes and non-HLA genes in a population of infants at familial risk of atopy		153440		CDC	2006	Our study confirms that HLA class III region seems involved in familial predisposition to atopy, and C4B gene probably acts as a marker of a more restricted subregion.											
150868		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Favorova, O. O.  et al. 2006	16872485				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Russian		CDC GDP info	4049	Hs.36			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		153440		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
150870	Y	vasopressor infusion requirement	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Inflammation|Postoperative Complications	6	6p21.3	LTA	31647718	31650077		Ryan, R.  et al. 2006	16928504				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Ann Thorac Surg    2006    82(3)    895-901	Gene polymorphism and requirement for vasopressor infusion after cardiac surgery		153440		CDC	2006	Vasopressor requirement after surgery may be related to an interaction of genotype, preoperative morbidity, and prolonged surgery.											
150871	Y	endometriosis	REPRODUCTION	REP		6	6p21.3	LTA	31647718	31650077		Luo, M.  et al. 2006	16939911	Allele A in LTA (TNF-beta gene) +252			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(8)    1163-5	Association of tumor necrosis factors-beta gene polymorphism with endometriosis in women in Guangdong Province.		153440		CDC	2006	Allele A in TNF-beta gene +252 site can significantly increase the relative risk of endometriosis in women in Guangdong, among which TNF-beta AA genotype might be one of the genetic susceptible factors for endometriosis.											
150872		leishmaniasis, cutaneous	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Kamali-Sarvestani, E.  et al. 2006	16950634				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Iranian		CDC GDP info	4049	Hs.36			Cytokine    2006	Cytokine gene polymorphisms and susceptibility to cutaneous leishmaniasis in Iranian patients		153440		CDC	2006	our results suggest that functional genetic variants in the IL-4 promoter could influence the risk of developing CL while the polymorphism in the first intron of the IFN-gamma gene might influence the progression of disease towards CCL.											
150873	N	IgE, cord blood	IMMUNE	IMM		6	6p21.3	LTA	31647718	31650077		Wen, H. J.  et al. 2006	17014622				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Pediatr Allergy Immunol    2006    17(7)    489-94	Association between cord blood IgE and genetic polymorphisms of interleukin-4, the beta-subunit of the high-affinity receptor for IgE, lymphotoxin-alpha, and tumor Necrosis factor-alpha		153440		CDC	2006												
150874		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Inflammation	6	6p21.3	LTA	31647718	31650077		Wang, S. S.  et al. 2006	17018637				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Cancer Res    2006    66(19)    9771-80	Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-hodgkin lymphoma		153440		CDC	2006	common variants in genes influencing proinflammatory and innate immune responses were associated with non-Hodgkin lymphoma risk overall and their effects could vary by subtype. Our results require replication but potentially provide important clues for investigating common genetic variants as susceptibility factors and in disease outcomes, treatment responses, and immunotherapy targets. (Cancer Res 2006; 66(19): 9771-80).											
150875	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	6	6p21.3	LTA	31647718	31650077		Carmichael, S. L.  et al. 2006	17036337				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		153440		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
150877	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6p21.3	LTA	31647718	31650077		Pieroni, F.  et al. 2006	17113632				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		153440		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
150878		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Palikhe, A.  et al. 2007	17212707				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		153440		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
150879	Y	testicular cancer	CANCER	CAN	Seminoma|Testicular Neoplasms	6	6p21.3	LTA	31647718	31650077		Purdue, M. P.  et al. 2007	17220333				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Hispanic Caucasian;non-Hispanic	United States	CDC GDP info	4049	Hs.36			Cancer Epidemiol Biomarkers Prev    2007    16(1)    77-83	A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors		153440		CDC	2007	our findings suggest that polymorphisms in TGFB1 and LTA/TNF, and possibly other immune function genes, may influence susceptibility to TGCT.											
150880		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Brown, E. E.  et al. 2007	17315188				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	European		CDC GDP info	4049	Hs.36			Int J Cancer    2007	Common variants in genes that mediate immunity and risk of multiple myeloma		153440		CDC	2007												
150882	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Nakkuntod, J.  et al. 2006	17348243				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Thai		CDC GDP info	4049	Hs.36			Asian Pac J Allergy Immunol    2006    24(4)    207-11	Association of TNF-alpha, TNF-beta, IFN-gamma and IL-1Ra gene polymorphisms with Graves' disease in the Thai population		153440		CDC	2006												
150883			CANCER	CAN	Neoplasms|Inflammation	6	6p21.3	LTA	31647718	31650077		Huang, H. Y.  et al. 2007	17355643				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	African American;Caucasian		CDC GDP info	4049	Hs.36			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		153440		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
150885	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Chang, Y. T.  et al. 2007	17388919				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		153440		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
150886	N	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Mattuzzi, S.  et al. 2007	17444587				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		153440		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
150887		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Seno, H.  et al. 2007	17444864				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		153440		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
150889	N	myocardial infarct	CARDIOVASCULAR	CARD		6	6p21.3	LTA	31647718	31650077		Sedlacek, K.  et al. 2007	17497114				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese;European;German		CDC GDP info	4049	Hs.36			J Mol Med    2007	Lymphotoxin-alpha and galectin-2 SNPs are not associated with myocardial infarction in two different German populations		153440		CDC	2007												
150890	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Koch, W.  et al. 2007	17517687				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese;European		CDC GDP info	4049	Hs.36			Hum Mol Genet    2007	Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans		153440		CDC	2007												
150891		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077		Reich, K.  et al. 2007	17530646				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		153440		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
150892		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2p22-p21	LTBP1	33025895	33478079		Higashi, T.  et al. 2006	16825507			promoter	Latent transforming growth factor beta binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_206943			CDC GDP info	4052	Hs.654497			J Mol Diagn    2006    8(3)    342-50	Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-{beta} Binding Protein-1L Promoter		150390		CDC	2006												
150894	Y	asthma, aspirin-induced	IMMUNE	IMM	Asthma	5	5q35	LTC4S	179153591	179156119			16340173			promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1	Korean		CDC GDP info	4056	Hs.631951			Tohoku J Exp Med    2006    208(1)    49-56	Lack of an association between a newly identified promoter polymorphism (-1702G > A) of the leukotriene C4 synthase gene and aspirin-intolerant asthma in a Korean population		246530		CDC	2006												
150895	Y	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	5	5q35	LTC4S	179153591	179156119		Eskandari, H. G.  et al. 2006	16730545				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDP info	4056	Hs.631951			Otolaryngol Head Neck Surg    2006    134(6)    997-1000	Leukotriene C4 synthase A-444C gene polymorphism in patients with allergic rhinitis		246530		CDC	2006	The C allele of the leukotriene C4 synthase gene increases the risk of developing allergic rhinitis.											
150896		sinusitis	IMMUNE	IMM	Sinusitis|Chronic Disease	5	5q35	LTC4S	179153591	179156119		de Alarcon, A.  et al. 2006	17063752			promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDP info	4056	Hs.631951			Am J Rhinol    2006    20(5)    545-9	Expression of leukotriene C4 synthase and plasminogen activator inhibitor 1 gene promoter polymorphisms in sinusitis		246530		CDC	2006	There appears to be a genetic component that contributes to nasal polyp formation in sinusitis.											
150897	Y	atherosclerosis, carotid coronary artery calcium, intimal medial thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Arteriosclerosis|Inflammation	5	5q35	LTC4S	179153592	179156119		Iovannisci, D. M.  et al. 2006	17110605	LTC4S  (-444)C	The (-444)C variant upregulates LTC4S mRNA expression, increasing the synthesis of proinflammatory leukotrienes.	promoter	Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDP info	4056	Hs.631951			Arterioscler Thromb Vasc Biol    2006	Association Between A Leukotriene C4 Synthase Gene Promoter Polymorphism and Coronary Artery Calcium in Young Women. The Muscatine Study	rs730012	246530		CDC	2006	LTC4S plays a key role in the process of inflammation as the rate limiting enzyme in the conversion of arachidonic acid to cysteinyl-leukotrienes, important mediators of inflammatory responses. The (-444)C variant upregulates LTC4S mRNA expression, increasing the synthesis of proinflammatory leukotrienes. Our results support genetic variation modifying inflammatory pathways as an important mechanism in the development of atherosclerosis.											
150898		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q35	LTC4S	179153591	179156119		Sanz, C.  et al. 2006	17153879				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1		Spain	CDC GDP info	4056	Hs.631951			J Investig Allergol Clin Immunol    2006    16(6)    331-7	Analysis of 927T> C CYSLTRI and -444A > C LTC4S polymorphisms in patients with asthma		246530		CDC	2006	The results suggest a certain trend of associations that could help to explain some controversial results in association studies of these genes from the leukotriene pathway, when considered individually.											
150899	Y	asthma IgE	IMMUNE	IMM		5	5q35	LTC4S	179153591	179156119		Acevedo, N.  et al. 2007	17291864	LTC4S A-444C			Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDP info	4056	Hs.631951			J Allergy Clin Immunol    2007    119(2)    505-7	The A-444C polymorphism of leukotriene C4 synthase gene is associated with IgE antibodies to Dermatophagoides pteronyssinus in a Colombian population		246530		CDC	2007												
150900	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	5	5q35	LTC4S	179153591	179156119		Klotsman, M.  et al. 2007	17460547				Leukotriene C4 synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145867.1			CDC GDP info	4056	Hs.631951			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		246530		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
150901	Y	diarrhea	OTHER	OTH	Genetic Predisposition to Disease|Diarrhea	3	3q21-q23	LTF	46452499	46501728		Mohamed, J. A.  et al. 2007	17342646	LTF T/T genotype in position codon 632			Lactotransferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002343.2		North America|	CDC GDP info	4057	Hs.529517			Clin Infect Dis    2007    44(7)    945-52	A novel single-nucleotide polymorphism in the lactoferrin gene is associated with susceptibility to diarrhea in North American travelers to Mexico		150210		CDC	2007	The T/T genotype in position codon 632 of the lactoferrin gene is associated with$$$ susceptibility to diarrhea in North Americans traveling to Mexico.											
150902	Y	myopia	VISION	VIS	Myopia|Genetic Predisposition to Disease	12	12q21.3-q22	LUM	90021362	90029673		Wang, I. J.  et al. 2006	16902402				Lumican	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG114678			CDC GDP info	4060	Hs.406475			Mol Vis    2006    12    852-7	The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan		600616		CDC	2006	Our results indicate that an SNP (rs3759223), which is located in the promoter region of the lumican gene, may be worth further investigation to determine its association with development of high myopia.											
150904		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	4	4q27	MAD2L1	121200037	121207411		Lo, Y. L.  et al. 2007	17210994				MAD2 mitotic arrest deficient-like 1 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U65410			CDC GDP info	4085	Hs.591697			Carcinogenesis    2007	Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes		601467		CDC	2007												
150906		breast cancer	CANCER	CAN		1	1p36	MAD2L2	11657123	11674294		Vaclavicek, A.  et al. 2007	17268814				MAD2 mitotic arrest deficient-like 2 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK094316	German		CDC GDP info	10459	Hs.19400			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		604094		CDC	2007												
150907	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	19	19p13.3	MADCAM1	447489	456343		Bowlus, C. L.  et al. 2006	16750586				Mucosal vascular addressin cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092211	Norwegian;Norwegian		CDC GDP info	8174	Hs.102598			J Hepatol    2006	Analysis of MAdCAM-1 and ICAM-1 polymorphisms in 365 Scandinavian patients with primary sclerosing cholangitis				CDC	2006	Polymorphisms in MAdCAM-1 are not likely to significantly affect PSC susceptibility. In addition, the E/E genotype of the K469E in ICAM-1 does not influence PSC susceptibility in Scandinavia.											
150908		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Comings, D. E.  et al. 2000	11140838				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		309850		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
150909			NORMALVARIATION	NV		X	Xp11.4-p11.3	MAOA	43400352	43491012		Hamajima, N.  et al. 2002	12164325				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		309850		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150910		alcohol dependence impulsive behaviors	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012			16526025				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Brazilian;European		CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2006	MAOA-uVNTR polymorphism in a Brazilian sample		309850		CDC	2006												
150912		panic disorder	PSYCH	PSY	Panic Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012			16538182				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Psychiatr Genet    2006    16(2)    59-65	Interaction of serotonergic and noradrenergic gene variants in panic disorder		309850		CDC	2006	This is the first possible interaction of genetic variations in panic disorder that has been observed.											
150913	Y	fibromyalgia	OTHER	OTH	Fibromyalgia|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012			16547693				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Clin Rheumatol    2006	The association between fibromyalgia and polymorphism of monoamine oxidase A and interleukin-4		309850		CDC	2006												
150914		personality traits	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kim, S. J.  et al. 2006	16584839				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Korean		CDC GDP info	4128	Hs.183109			Neurosci Lett    2006	An association study of catechol-O-methyltransferase and monoamine oxidase A polymorphisms and personality traits in Koreans		309850		CDC	2006												
150915		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	X	Xp11.4-p11.3	MAOA	43400352	43491012		Smith, A. K.  et al. 2006	16610949				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Pharmacogenomics    2006    7(3)    387-394	Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue		309850		CDC	2006												
150916	Y	body mass obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight	X	Xp11.4-p11.3	MAOA	43400352	43491012		Need, A. C.  et al. 2006	16674552				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Ann Hum Genet    2006    70(Pt 3)    293-303	Obesity is Associated with Genetic Variants That Alter Dopamine Availability		309850		CDC	2006												
150917		suicide	PSYCH	PSY	Schizophrenia	X	Xp11.4-p11.3	MAOA	43400352	43491012		De Luca, V.  et al. 2006	16725119				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Brain Res    2006	Gene-gene interaction between MAOA and COMT in suicidal behavior		309850		CDC	2006												
150918	N	conduct disorder	PSYCH	PSY	Substance-Related Disorders|Genetic Predisposition to Disease|Conduct Disorder|Child Behavior Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Young, S. E.  et al. 2006	16741202				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Psychiatry    2006    163(6)    1019-25	Interaction Between MAO-A Genotype and Maltreatment in the Risk for Conduct Disorder		309850		CDC	2006	The results of the current study do not support the hypothesis that a polymorphism in the gene encoding MAO-A contributes to the genetic risk for conduct disorder.		maltreatment									
150919	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders|Tobacco Use Disorder|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Wiesbeck, G. A.  et al. 2006	16763378			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Caucasian		CDC GDP info	4128	Hs.183109			Neuropsychobiology    2006    53(4)    181-185	A Functional Polymorphism in the Promoter Region of the Monoamine Oxidase A Gene Is Associated with the Cigarette Smoking Quantity in Alcohol-Dependent Heavy Smokers		309850		CDC	2006												
150921		psychopathology	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit and Disruptive Behavior Disorders|Child Behavior Disorders|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kim-Cohen, J.  et al. 2006	16801953			5'promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Human		CDC GDP info	4128	Hs.183109			Mol Psychiatry    2006	MAOA, maltreatment, and gene-environment interaction predicting children's mental health		309850		CDC	2006		genotype by environment interaction	childhood maltreatment									
150922		depression	PSYCH	PSY	Diseases in Twins|Depressive Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Christiansen, L.  et al. 2006	16806099				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Danish		CDC GDP info	4128	Hs.183109			Biol Psychiatry    2006	Candidate Gene Polymorphisms in the Serotonergic Pathway		309850		CDC	2006	These results suggest that variations in genes encoding the components of serotonin metabolism may influence the basic mood level and that different genetic factors may apply in men and women.											
150923		antisocial personality disorder conduct disorder	PSYCH	PSY	Genetic Predisposition to Disease|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Widom, C. S.  et al. 2006	16814261				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Biol Psychiatry    2006	"MAOA and the ""Cycle of Violence"		309850		CDC	2006	Possible explanations for this differential effect for whites and non-whites include differences in contextual factors (e.g., environmental stressors) and a question of the suitability of using the MAOA promoter VNTR polymorphism as a proxy for MAOA levels in non-white populations.		childhood abuse childhood neglect									
150925		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Das, M.  et al. 2006	16856146			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Indian		CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2006	MAOA promoter polymorphism and attention deficit hyperactivity disorder (ADHD) in indian children		309850		CDC	2006	the short 3.											
150926	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Brookes, K. et al  et al. 2006	16894395				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		309850		CDC	2006												
150927	Y	behavioural traits	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Rosenberg, S.  et al. 2006	16896926				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Hum Genet    2006	The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males		309850		CDC	2006												
150928		headache	NEUROLOGICAL	NEUR	Headache|Substance-Related Disorders|Chronic Disease|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Cevoli, S.  et al. 2006	16930369				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Eur J Neurol    2006    13(9)    1009-13	A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse		309850		CDC	2006												
150930	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Muller, D. J.  et al. 2006	16958037				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Canadian;Italian		CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2006	Further evidence of MAO-A gene variants associated with bipolar disorder		309850		CDC	2006	our family-based association study gives mild but further support of the involvement of MAOA variants in bipolar disorder.											
150931		alcoholism antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Wang, T. J.  et al. 2006	17007976				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Taiwan	CDC GDP info	4128	Hs.183109			Prog Neuropsychopharmacol Biol Psychiatry    2006	Possible interaction between MAOA and DRD2 genes associated with antisocial alcoholism among Han Chinese men in Taiwan		309850		CDC	2006												
150932	N	antisocial personality disorder	PSYCH	PSY	Genetic Predisposition to Disease|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Huizinga, D.  et al. 2006	17008143				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Caucasian		CDC GDP info	4128	Hs.183109			Biol Psychiatry    2006    60(7)    677-83	Childhood maltreatment, subsequent antisocial behavior, and the role of monoamine oxidase a genotype		309850		CDC	2006	Findings from this general population sample could not confirm the hypothesis that MAOA moderates the relationship between adolescent maltreatment and adolescent or adult antisocial behavior.		parental maltreatment violent victimization									
150933	N	premenstrual dysphoric disorder	REPRODUCTION	REP	Premenstrual Syndrome|Mental Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Magnay, J. L.  et al. 2006	17026953				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Obstet Gynecol    2006	Serotonin transporter, tryptophan hydroxylase, and monoamine oxidase A gene polymorphisms in premenstrual dysphoric disorder		309850		CDC	2006	These findings do not support a major role for common 5-hydroxytryptamine transporter, TPH1, and monoamine oxidase A polymorphisms in contributing to susceptibility to premenstrual dysphoric disorder.											
150934		criminal activity	PSYCH	PSY	Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Sjoberg, R. L.  et al. 2006	17034017				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Sweden	CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2006	Adolescent girls and criminal activity		309850		CDC	2006												
150935		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kang, S. J.  et al. 2006	17044053				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Mov Disord    2006    21(12)    2175-80	Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease		309850		CDC	2006												
150937		personality traits	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Urata, T.  et al. 2006	17208375				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Neurosci Lett    2006	Gene-gene interaction analysis of personality traits in a Japanese population using an electrochemical DNA array chip analysis		309850		CDC	2006												
150938	Y	schizophrenia	PSYCH	PSY	Schizophrenia, Paranoid	X	Xp11.4-p11.3	MAOA	43400352	43491012		Tybura, P.  et al. 2006	17217235				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Psychiatr Pol    2006    40(5)    913-23	Association of functional genes polymorphisms of key enzymes in the metabolism of biogenic amines with paranoid schizophrenia susceptibility and the influence of these polymorphisms on PANSS results in antipsychotic treatment		309850		CDC	2006												
150939		decision making	PSYCH	PSY	Learning Disorders|Mood Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jollant, F.  et al. 2007	17221847				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2007	The influence of four serotonin-related genes on decision-making in suicide attempters		309850		CDC	2007												
150940	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Lung, F. W.  et al. 2007	17230031			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		China	CDC GDP info	4128	Hs.183109			Neuropsychobiology    2007    54(3)    147-151	No Allele Variation of the MAOA Gene Promoter in Male Chinese Subjects with Attention Deficit Hyperactivity Disorder		309850		CDC	2007												
150941	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Mental Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Nilsson, K. W.  et al. 2007	17298646				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2		Sweden	CDC GDP info	4128	Hs.183109			Addiction    2007    102(3)    389-98	The monoamine oxidase A (MAO-A) gene, family function and maltreatment as predictors of destructive behaviour during male adolescent alcohol consumption		309850		CDC	2007	The results suggest that both maltreatment and MAO-A genotype may be useful for the understanding of male adolescent alcohol-related problem behaviour.											
150943		aggressive behavior Fragile X Syndrome	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Hessl, D.  et al. 2007	17340199				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			J Autism Dev Disord    2007	Brief Report		309850		CDC	2007												
150944	Y	personality disorders	PSYCH	PSY	Borderline Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Ni, X.  et al. 2007	17417058				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Caucasian		CDC GDP info	4128	Hs.183109			Psychiatr Genet    2007    17(3)    153-7	Monoamine oxidase A gene is associated with borderline personality disorder		309850		CDC	2007	These results show that the monoamine oxidase A gene may play an important role in the etiological development of the borderline personality disorder.											
150945		criminality	PSYCH	PSY	Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Oreland, L.  et al. 2007	17426915				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			J Neural Transm    2007	Monoamine oxidases - activities, genotypes and the shaping of behaviour		309850		CDC	2007												
150946		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Li, J.  et al. 2007	17427196				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2007	Monoamine oxidase A gene polymorphism predicts adolescent outcome of attention-deficit/hyperactivity disorder		309850		CDC	2007												
150947	Y	antisocial personality disorder	PSYCH	PSY	Alcoholism|Antisocial Personality Disorder	X	Xp11.4-p11.3	MAOA	43400352	43491012		Sjoberg, R. L.  et al. 2007	17429405				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Neuropsychopharmacology    2007	A Non-Additive Interaction of a Functional MAO-A VNTR and Testosterone Predicts Antisocial Behavior		309850		CDC	2007			testosterone									
150948		alcohol abuse	CHEMDEPENDENCY	CHEM		X	Xp11.4-p11.3	MAOA	43400352	43491012		Guo, G.  et al. 2007	17440951				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2007	Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood		309850		CDC	2007												
150949		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Dick, F.  et al. 2007	17449559				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	European		CDC GDP info	4128	Hs.183109			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		309850		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
150951		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Anxiety Disorders|Depressive Disorder, Major	X	Xp11.4-p11.3	MAOA	43400352	43491012		Huang, S. Y.  et al. 2007	17476365				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			J Psychiatry Neurosci    2007    32(3)    185-192	Monoamine oxidase-A polymorphisms might modify the association between the dopamine D(2)receptor gene and alcohol dependence		309850		CDC	2007	The genetic variant of the DRD2 gene was only associated with the ANX/DEP ALC phenotype, and the genetic variant of the MAOA gene was associated with pure ALC. Subjects carrying the MAOA 3-repeat allele and genotype A1/A1 of the DRD2 were 3.48 times (95% confidence interval = 1.47-8.25) more likely to be ANX/DEP ALC than the subjects carrying the MAOA 3-repe											
150952		physical agression	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012		Frazzetto, G.  et al. 2007	17534436				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			PLoS ONE    2007    2    e486	Early Trauma and Increased Risk for Physical Aggression during Adulthood		309850		CDC	2007			early traumatic life events									
150953		migraine	PHARMACOGENOMIC	PHARM	Migraine without Aura	X	Xp11.4-p11.3	MAOA	43400352	43491012		Asuni, C.  et al. 2007	17563839				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			J Headache Pain    2007	Association study between clinical response to rizatriptan and some candidate genes		309850		CDC	2007			rizatriptan									
150954	Y	depression sleep disorders	PSYCH	PSY	Sleep Disorders	X	Xp11.4-p11.3	MAOA	43400352	43491012		Brummett, B. H.  et al. 2007	17585061		MAOA-uVNTR	promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Psychosom Med    2007    69(5)    396-401	Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep quality		309850		CDC	2007	Individuals with less active MAOA-uVNTR alleles may be at increased risk for depressive symptoms and poor sleep.											
150956	N	platelet MAO-B activity	HEMATOLOGICAL	HEM		X	Xp11.23	MAOB	43510800	43626625			16427095			Intron	Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	Caucasian		CDC GDP info	4129	Hs.46732			Life Sci    2006	The lack of association between monoamine oxidase (MAO) intron 13 polymorphism and platelet MAO-B activity among men		309860		CDC	2006												
150957		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	X	Xp11.23	MAOB	43510800	43626625		Smith, A. K.  et al. 2006	16610949				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Pharmacogenomics    2006    7(3)    387-394	Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue		309860		CDC	2006												
150958	Y	body mass obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight	X	Xp11.23	MAOB	43510800	43626625		Need, A. C.  et al. 2006	16674552				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Ann Hum Genet    2006    70(Pt 3)    293-303	Obesity is Associated with Genetic Variants That Alter Dopamine Availability		309860		CDC	2006												
150959		pain intensity	NEUROLOGICAL	NEUR	Pain, Postoperative	X	Xp11.23	MAOB	43510800	43626625		Sery, O.  et al. 2006	16807522				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Neuro Endocrinol Lett    2006    27(3)	The association of monoamine oxidase B functional polymorphism with postoperative pain intensity		309860		CDC	2006	Results of this study indicate the relationship between the MAO-B polymorphism and postoperative pain intensity in the Czech male population. A potential role of MAO-B in the perception of pain intensity is discussed.											
150960		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	X	Xp11.23	MAOB	43510800	43626625		Kang, S. J.  et al. 2006	17044053				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Mov Disord    2006    21(12)    2175-80	Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease		309860		CDC	2006												
150962	N	post-traumatic stress disorder	PSYCH	PSY	Genetic Predisposition to Disease|Combat Disorders|Psychotic Disorders	X	Xp11.23	MAOB	43510800	43626625		Pivac, N.  et al. 2007	17289152			Intron	Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			J Affect Disord    2007	Monoamine oxidase (MAO) intron 13 polymorphism and platelet MAO-B activity in combat-related posttraumatic stress disorder		309860		CDC	2007	The MAO-B intron 13 polymorphism was not functional, and did not affect platelet MAO-B activity. The allele frequencies of the MAO-B genotype were similarly distributed among healthy controls and veterans with or without PTSD and/or psychotic symptoms. The results suggest that platelet MAO-B activity, controlled for smoking status, might be used as a peripheral marker of the psychotic symptoms in PTSD.		smoking (tobacco)									
150963		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xp11.23	MAOB	43510800	43626625		Li, J.  et al. 2007	17427196				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Am J Med Genet B Neuropsychiatr Genet    2007	Monoamine oxidase A gene polymorphism predicts adolescent outcome of attention-deficit/hyperactivity disorder		309860		CDC	2007												
150964		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Dick, F.  et al. 2007	17449559				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3	European		CDC GDP info	4129	Hs.46732			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		309860		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
150965		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	5	5q11.2	MAP3K1	56146656	56227735		Easton, D. F. et al.  et al. 2007	17529967				Mitogen-activated protein kinase kinase kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_042066	European		CDC GDP info	4214	Hs.657756			Nature    2007	Genome-wide association study identifies novel breast cancer susceptibility loci		600982		CDC	2007												
150967	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6q25.1-q25.3	MAP3K7IP2	149680755	149774440		Costas, J.  et al. 2006	16755651				Mitogen-activated protein kinase kinase kinase 7 interacting protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB018276			CDC GDP info	23118	Hs.269775			J Rheumatol    2006    33(6)    1048-51	SUMO4 and MAP3K7IP2 Single Nucleotide Polymorphisms and Susceptibility to Rheumatoid Arthritis		605101		CDC	2006	SUMO4 and MAP3K7IP2 SNP did not significantly influence predisposition to and features of RA, in contrast to previous genetic and functional evidence that suggested their involvement.											
150968		schizophrenia	PSYCH	PSY	Schizophrenia	11	11q13.3	MAP6	74975610	75057127		Shimizu, H.  et al. 2006	16624526				Microtubule-associated protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207577			CDC GDP info	4135	Hs.585540			Schizophr Res    2006	Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia				CDC	2006												
150969		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	17	17q21.1	MAPT	41327623	41461546		Park, J. W.  et al. 2006	16415175				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		157140		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
150970	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q21.1	MAPT	41327623	41461546		Fidani, L.  et al. 2006	16552760				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Norwegian		CDC GDP info	4137	Hs.101174			Mov Disord    2006	Association of the Tau haplotype with Parkinson's disease in the Greek population		157140		CDC	2006												
150972		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Kobayashi, H.  et al. 2006	16876320				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Japanese;Caucasian	Japan	CDC GDP info	4137	Hs.101174			Neurosci Lett    2006	Correlation of tau gene polymorphism with age at onset of Parkinson's disease		157140		CDC	2006												
150973	N	Alzheimer's disease dementia, frontotemporal Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Johansson, A.  et al. 2005	16909000				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			Neurodegener Dis    2005    2(1)    28-35	TAU Haplotype and the Saitohin Q7R Gene Polymorphism Do Not Influence CSF Tau in Alzheimer's Disease and Are Not Associated with Frontotemporal Dementia or Parkinson's Disease		157140		CDC	2005	We found no evidence that could support a major pathogenic role of STH and TAU haplotype in AD, FTD or PD.											
150974	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q21.1	MAPT	41327623	41461546		Fung, H. C.  et al. 2006	17192721				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2	Finnish;Greek	Taiwan|Finland|Greece	CDC GDP info	4137	Hs.101174			Neurodegener Dis    2006    3(6)    327-33	Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts		157140		CDC	2006	We failed to demonstrate a consistent association between the MAPT H1 haplotype (delineated by intron 9 ins/del) and PD in three ethnically diverse populations. However, the data presented here suggest that subhaplotypes of haplotype H1 may confer susceptibility to PD, and that either allelic heterogeneity or different haplotype composition explain the diver											
150975		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q21.1	MAPT	41327623	41461546		Mukherjee, O.  et al. 2007	17266761				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			BMC Genet    2007    8(1)    3	Haplotype-based association analysis of the MAPT locus in Late Onset Alzheimers disease		157140		CDC	2007	In conclusion, we employed two contemporary haplotype analysis tools to perform haplotype association analysis at the MAPT locus.											
150976		progressive supranuclear palsy Richardson's syndrome	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546		Williams, D. R.  et al. 2007	17274033				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			Mov Disord    2007	Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy		157140		CDC	2007												
150978		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q21.1	MAPT	41327623	41461546		Zabetian, C. P.  et al. 2007	17514749				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			Ann Neurol    2007	Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease		157140		CDC	2007												
150979		lupus erythematosus sepsis systemic inflammatory response syndrome	IMMUNE	IMM	Sepsis|Lupus Erythematosus, Systemic|Syndrome|Inflammation	3	3q27-q28	MASP1	188418631	188492446		Weiss, G.  et al. 2007	17444953				Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641029	Caucasian		CDC GDP info	5648	Hs.89983			Scand J Immunol    2007    65(5)    430-4	A Novel Mannose-binding Lectin-associated Serine Protease 1/3 Gene Variant		600521		CDC	2007	the MASP1/3 gene harbours a low-frequent polymorphic site resulting in an amino acid substitution, which may influence the function of the gene product.											
150980		H-ficolin mannan binding lectin levels	METABOLIC	MET	Crohn Disease	1	1p36.3-p36.2	MASP2	11009166	11029872		Nielsen, R. G.  et al. 2007	17303612				Mannan-binding lectin serine peptidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006610.2			CDC GDP info	10747	Hs.632369			Gut    2007    56(2)    311-2	Genetic polymorphisms of mannan binding lectin (MBL), serum levels of MBL, the MBL associated serine protease and H-ficolin in patients with Crohn's disease		605102		CDC	2007												
150981		cytomegalovirus infection, post allograft kidney transplant	INFECTION	INF	Bacterial Infections|Cytomegalovirus Infections|Genetic Predisposition to Disease	1	1p36.3-p36.2	MASP2	11009166	11029872		Cervera, C.  et al. 2007	17565323				Mannan-binding lectin serine peptidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006610.2			CDC GDP info	10747	Hs.632369			Transplantation    2007    83(11)    1493-1500	The Influence of Innate Immunity Gene Receptors Polymorphisms in Renal Transplant Infections		605102		CDC	2007	Polymorphisms of innate immunity receptors, especially TLR4 mutation, were associated with higher risk of CMV disease, while susceptibility to other infectious disorders was not observed.											
150983	Y	scoliosis	OTHER	OTH		1	1p35	MATN1	30958582	30969474		Montanaro, L.  et al. 2006	17176459				matrilin 1, cartilage matrix protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002379.2			CDC GDP info	4146	Hs.150366			Scoliosis    2006    1(1)    21	Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis		115437		CDC	2006	The results suggest that the familial idiopathic scoliosis is associated to the MATN1 gene.											
150984	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	3	3q21-q22	MBD4	130632482	130641542		Shin, M. C.  et al. 2006	16803845	MBD4 Glu346Lys			Methyl-CpG binding domain protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF072250	Korean		CDC GDP info	8930	Hs.35947			Jpn J Clin Oncol    2006	Glu346lys Polymorphism in the Methyl-Cpg Binding Domain 4 Gene and the Risk of Primary Lung Cancer		603574		CDC	2006	Our findings suggest that the MBD4 Glu346Lys polymorphism could be used as a marker for genetic susceptibility to AC of the lung.		smoking (tobacco)									
150986	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Saevarsdottir, S.  et al. 2006	16439442				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Icelandic		CDC GDP info	4153	Hs.499674			Ann Rheum Dis    2006    65(11)    1462-7	Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus		154545		CDC	2006	These findings indicate that low MBL levels can predispose people to SLE and highlight the genetic heterogeneity of this disease.											
150987	Y	malaria	INFECTION	INF	Malaria|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Boldt, A. B.  et al. 2006	16738667				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		Gabon	CDC GDP info	4153	Hs.499674			Genes Immun    2006    7(5)    393-400	Association of a new mannose-binding lectin variant with severe malaria in Gabonese children		154545		CDC	2006												
150988	N	antiphospholipid syndrome cardiovascular disease cholesterol cholesterol, LDL kidney failure, chronic vascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Lupus Erythematosus, Systemic|Antiphospholipid Syndrome|Chronic Disease|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Font, J.  et al. 2006	16801331				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Rheumatology (Oxford)    2006	Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus		154545		CDC	2006	Although the prevalence of cardiovascular disease in our SLE patients carrying MBL-deficient genotypes was 3.3 times higher than in patients with non-deficient genotypes, only APS was independently associated with cardiovascular events. This suggests that the higher frequency of thrombotic events in SLE patients carrying MBL-deficient genotypes might be rela											
150989		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	10	10q11.2-q21	MBL2	54195145	54201466		Balada, E.  et al. 2006	17092257				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1		Spain	CDC GDP info	4153	Hs.499674			Tissue Antigens    2006    68(5)    432-8	Multiplex family-based study in systemic lupus erythematosus		154545		CDC	2006												
150990	P		NORMALVARIATION	NV		10	10q11.2-q21	MBL2	54195145	54201466		Zhong, C. Q.  et al. 2006	17259116				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(12)    1764-7	Frequencies of CGT52TGT, GGC54GAC and GGA57GAA point mutations in MBL gene in Chinese Uyghur population.		154545		CDC	2006	The frequencies of CGT52TGT, GGC54GAC and GGA57GAA mutant alleles in exon 1 of MBL structural gene are 0, 0.											
150992		H-ficolin mannan binding lectin levels	METABOLIC	MET	Crohn Disease	10	10q11.2-q21	MBL2	54195145	54201466		Nielsen, R. G.  et al. 2007	17303612				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Gut    2007    56(2)    311-2	Genetic polymorphisms of mannan binding lectin (MBL), serum levels of MBL, the MBL associated serine protease and H-ficolin in patients with Crohn's disease		154545		CDC	2007												
150993	Y	bronchopulmonary aspergillosis pulmonary aspergillosis	UNKNOWN	UNK	Aspergillosis, Allergic Bronchopulmonary|Chronic Disease|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Vaid, M.  et al. 2007	17311505				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1	Caucasian		CDC GDP info	4153	Hs.499674			Clin Chem Lab Med    2007    45(2)    183-6	Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis		154545		CDC	2007	Distinct alleles, genotypes and genotype combinations of SP-A2 and MBL may contribute to differential susceptibility of the host to CCPA or ABPA.											
150994	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	10	10q11.2-q21	MBL2	54195145	54201466		Seibold, F.  et al. 2007	17480019				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Inflamm Bowel Dis    2007	Association of deficiency for mannan-binding lectin with anti-mannan antibodies in Crohn's disease		154545		CDC	2007	MBL deficiency is associated with ASCA positivity not only in patients with CD, but also in their relatives.											
150995	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Faber, J.  et al. 2007	17484222	MBL exon 1 structural variants			Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Pediatr Infect Dis J    2007    26(3)    243-6	Age-dependent association of human mannose-binding lectin mutations with susceptibility to invasive meningococcal disease in childhood		154545		CDC	2007	Our data suggest that MBL exon 1 structural variants are significantly associated with susceptibility to childhood meningococcal disease in an age-dependent manner.											
150996		cytomegalovirus infection, post allograft kidney transplant	INFECTION	INF	Bacterial Infections|Cytomegalovirus Infections|Genetic Predisposition to Disease	10	10q11.2-q21	MBL2	54195145	54201466		Cervera, C.  et al. 2007	17565323				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Transplantation    2007    83(11)    1493-1500	The Influence of Innate Immunity Gene Receptors Polymorphisms in Renal Transplant Infections		154545		CDC	2007	Polymorphisms of innate immunity receptors, especially TLR4 mutation, were associated with higher risk of CMV disease, while susceptibility to other infectious disorders was not observed.											
150998		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Concetta Fargnoli, M.  et al. 2006	16567973				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			Melanoma Res    2006    16(2)    175-182	Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy		155555		CDC	2006			sun exposure									
150999	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Stratigos, A. J.  et al. 2006	16601669				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	European	Greece	CDC GDP info	4157	Hs.513829			J Invest Dermatol    2006	Melanocortin Receptor-1 Gene Polymorphisms and the Risk of Cutaneous Melanoma in a Low-Risk Southern European Population		155555		CDC	2006	MC1R polymorphisms are a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease.											
151000		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Liboutet, M.  et al. 2006	16645598				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	French	France	CDC GDP info	4157	Hs.513829			J Invest Dermatol    2006	MC1R and PTCH Gene Polymorphism in French Patients with Basal Cell Carcinomas		155555		CDC	2006												
151001		melanoma skin cancer, non-melanoma	CANCER	CAN	Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006		Han, J.  et al. 2006	16721784				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			Int J Cancer    2006	Melanocortin 1 receptor variants and skin cancer risk		155555		CDC	2006												
151003		melanoma	CANCER	CAN	Melanoma	16	16q24.3	MC1R	88512526	88530006		Kanetsky, P. A.  et al. 2006	16982779				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			Cancer Res    2006    66(18)    9330-7	Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma		155555		CDC	2006												
151004	Y	breast cancer melanoma	CANCER	CAN	Melanoma|Breast Neoplasms	16	16q24.3	MC1R	88512526	88530006		Debniak, T.  et al. 2006	16988943				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Polish		CDC GDP info	4157	Hs.513829			Int J Cancer    2006	MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk		155555		CDC	2006	the results of this population-based study show herein that MC1R variants are associated with increased melanoma risk in the Polish population. The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T.		family history									
151005		melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Mossner, R.  et al. 2006	17072629				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			Arch Dermatol Res    2006	Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma		155555		CDC	2006												
151007		hair color	OTHER	OTH		16	16q24.3	MC1R	88512526	88530006		Branicki, W.  et al. 2007	17316231				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			J Forensic Sci    2007    52(2)    349-54	Determination of Phenotype Associated SNPs in the MC1R Gene		155555		CDC	2007												
151008		freckles and solar lentigines	OTHER	OTH	Pigmentation Disorders|Melanosis	16	16q24.3	MC1R	88512526	88530006		Motokawa, T.  et al. 2007	17371441				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Japanese;Caucasian		CDC GDP info	4157	Hs.513829			Pigment Cell Res    2007    20(2)    140-3	Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese		155555		CDC	2007												
151009		melanoma	CANCER	CAN	Melanoma|Dysplastic Nevus Syndrome|Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006		Goldstein, A. M.  et al. 2007	17397031				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Spanish;Spanish;French;Italian		CDC GDP info	4157	Hs.513829			Int J Cancer    2007	Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries		155555		CDC	2007												
151010		melanoma	CANCER	CAN	Melanoma|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Fernandez, L.  et al. 2007	17434924				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2			CDC GDP info	4157	Hs.513829			Carcinogenesis    2007	MC1R		155555		CDC	2007												
151011			NORMALVARIATION	NV		16	16q24.3	MC1R	88512526	88530006		Yuasa, I.  et al. 2007	17570052				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Asian		CDC GDP info	4157	Hs.513829			Biochem Genet    2007	Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes		155555		CDC	2007												
151012		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		20	20q13.2-q13.3	MC3R	54257195	54258278		Comings, D. E.  et al. 2000	11140838				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDP info	4159	Hs.248018			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		155540		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
151014	Y	weight loss	METABOLIC	MET	Obesity|Weight Loss	20	20q13.2-q13.3	MC3R	54257195	54258278		Santoro, N.  et al. 2007	17413091				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2			CDC GDP info	4159	Hs.248018			Am J Clin Nutr    2007    85(4)    950-3	Effect of the melanocortin-3 receptor C17A and G241A variants on weight loss in childhood obesity		155540		CDC	2007	These results suggest a gene-diet interaction between the MC3R C17A and G241A variants and a weight loss program for the ability to lose weight in childhood obesity.		diet									
151015	Y	body mass height weight gain	METABOLIC	MET		18	18q22	MC4R	56189543	56190981		Santoro, N.  et al. 2005	16279363				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			J Pediatr Endocrinol Metab    2005    18(9)    859-63	MC4R marker associated with stature in children and young adults		155541		CDC	2005												
151016		energy homeostasis	NORMALVARIATION	NV	Obesity	18	18q22	MC4R	56189543	56190981		Lee, Y. S.  et al. 2006	16459314				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1	Caucasian		CDC GDP info	4160	Hs.532833			Cell Metab    2006    3(2)    135-40	A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance		155541		CDC	2006												
151018	Y	obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Valli-Jaakola, K.  et al. 2006	16710097			promoter	Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Horm Res    2006    66(2)    61-69	A Two-Base Deletion -439delGC in the Melanocortin-4 Receptor Promoter Associated with Early-Onset Obesity		155541		CDC	2006	We report an MC4R promoter mutation, -439delGC, associated with early-onset obesity and show that transcription factor Nhlh2 recognises this site in vitro. Nhlh2 mutations unlikely underlie severe human obesity.											
151020	Y	obesity	METABOLIC	MET	Obesity, Morbid	18	18q22	MC4R	56189543	56190981		Rettenbacher, E.  et al. 2007	17286227	MCA4R S136F			Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Exp Clin Endocrinol Diabetes    2007    115(1)    7-12	A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity		155541		CDC	2007	We detected a novel non-synonymous mutation (S136F) that leads to a complete loss of MC4R function IN VITRO.											
151021	Y	obesity	METABOLIC	MET		18	18q22	MC4R	56189543	56190981		Zhang, R.  et al. 2007	17418015				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Zhonghua Yi Xue Za Zhi    2007    87(2)    96-9	Association between melanocortin 4 receptor gene polymorphisms and obesity.		155541		CDC	2007	Val103Ile variant of MC4R gene is associated with obesity in Chinese.											
151022	Y	obesity	METABOLIC	MET	Obesity|Overweight	18	18q22	MC4R	56189543	56190981		Ochoa, M. C.  et al. 2007	17492953				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Clin Endocrinol (Oxf)    2007    66(5)    652-8	A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population		155541		CDC	2007	The presence of heterozygous MC4R mutations in obese and overweight subjects indicates that these mutations may be a susceptibility factor for obesity development, but lifestyle factors, such as exercise or sedentary activities, may modify their effect.											
151023		weight loss	METABOLIC	MET	Obesity|Body Weight|Weight Loss	18	18q22	MC4R	56189543	56190981		Hainerova, I.  et al. 2007	17579204				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			J Clin Endocrinol Metab    2007	Melanocortin 4 Receptor Mutations in Obese Czech Children		155541		CDC	2007	Among Czech obese children, we found a prevalence of 2.											
151024	Y	body mass leptin obesity	METABOLIC	MET	Atherosclerosis|Obesity	18	18q22	MC4R	56189543	56190981		Hart Sailors, M. L.  et al. 2007	17587397				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Diabetes Obes Metab    2007    9(4)    548-557	Genetic variation and decreased risk for obesity in the Atherosclerosis Risk in Communities Study		155541		CDC	2007	These results suggest that variation within the LEP and MC4R genes is associated with reduced risk for obesity in females.											
151025		bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	22	22q13.2	MCHR1	39405127	39408764		Severinsen, J. E.  et al. 2006	16741940				Melanin-concentrating hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF490537	Scottish		CDC GDP info	2847	Hs.248122			Am J Med Genet B Neuropsychiatr Genet    2006	Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia		601751		CDC	2006												
151027			METABOLIC	MET	Mucolipidoses	19	19p13.3-p13.2	MCOLN1	7493511	7504863		Hantash, F. M.  et al. 2006	16645217				Hypothetical protein LOC147791	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020533.1	Ashkenazi;Jewish		CDC GDP info	57192	Hs.631858			J Mol Diagn    2006    8(2)    282-7	Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population		605248		CDC	2006												
151029		brain size	NEUROLOGICAL	NEUR	Microcephaly	8	8p23.1	MCPH1	6251528	6493434		Dobson-Stone, C.  et al. 2007	17566767				Microcephaly, primary autosomal recessive 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024596			CDC GDP info	79648	Hs.656769			Neuroimage    2007	Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort		607117		CDC	2007												
151030		bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	17	17p13.3	MDCR	2443685	2535638		Tabares-Seisdedos, R.  et al. 2006	16549273				platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000430		Spain	CDC GDP info	5048	Hs.77318			Neuroscience    2006	Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean spain		605066		CDC	2006												
151031	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Menin, C.  et al. 2006	16478747				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			J Natl Cancer Inst    2006    98(4)    285-8	Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation status		164785		CDC	2006												
151032	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Lind, H.  et al. 2006	16496380			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Norwegian		CDC GDP info	4193	Hs.567303			Int J Cancer    2006	Association of a functional polymorphism in the promoter of the MDM2 gene with risk of nonsmall cell lung cancer		164785		CDC	2006												
151034		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Li, G.  et al. 2006	16675470			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	non-Hispanic		CDC GDP info	4193	Hs.567303			Carcinogenesis    2006	MDM2 gene promoter polymorphisms and risk of lung cancer		164785		CDC	2006												
151036	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Park, S. H.  et al. 2006	16876289				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Korean		CDC GDP info	4193	Hs.567303			Lung Cancer    2006	MDM2 309T>G polymorphism and risk of lung cancer in a Korean population		164785		CDC	2006	Our findings suggest that the MDM2 309T>G polymorphism may be used as a marker for genetic susceptibility to adenocarcinoma of the lung.											
151037	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Pine, S. R.  et al. 2006	16896050	MDM2 SNP309 and SNP354			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Caucasian		CDC GDP info	4193	Hs.567303			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1559-61	MDM2 SNP309 and SNP354 Are Not Associated with Lung Cancer Risk		164785		CDC	2006												
151038	Y	liver cancer	CANCER	CAN	Hepatitis C, Chronic|Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Dharel, N.  et al. 2006	16914573			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Clin Cancer Res    2006    12(16)    4867-71	MDM2 Promoter SNP309 Is Associated with the Risk of Hepatocellular Carcinoma in Patients with Chronic Hepatitis C		164785		CDC	2006	The MDM2 promoter SNP309 is associated with the presence of hepatocellular carcinoma in Japanese patients with chronic hepatitis C.											
151039	Y	stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Ohmiya, N.  et al. 2006	16983111	MDM2  SNP309		promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			J Clin Oncol    2006    24(27)    4434-40	MDM2 Promoter Polymorphism Is Associated With Both an Increased Susceptibility to Gastric Carcinoma and Poor Prognosis		164785		CDC	2006	This study provides evidence supporting the association of SNP309 with gastric carcinogenesis via p53 tumor suppressor pathway, extragastric tumorigenesis, and poor prognosis.											
151041	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Wasielewski, M.  et al. 2006	17080308	MDM2 SNP309			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Breast Cancer Res Treat    2006	MDM2 SNP309 accelerates familial breast carcinogenesis independently of estrogen signaling		164785		CDC	2006	our data suggest that MDM2 SNP309 accelerates familial breast carcinogenesis, but that this acceleration is not influenced by estrogen signaling.											
151042	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Onat, O. E.  et al. 2006	17094469	MDM2 T309G			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Anticancer Res    2006    26(5A)    3473-5	MDM2 T309G polymorphism is associated with bladder cancer		164785		CDC	2006												
151043	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	12	12q14.3-q15	MDM2	67488246	67520481		Talseth, B. A.  et al. 2006	17096342				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Int J Cancer    2006	MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients		164785		CDC	2006	the data indicates the G allele of MDM2 SNP309 might have a protective effect on disease development in HNPCC patients and that age of diagnosis of CRC is not associated with MDM2 SNP309 or TP53 R72P either as single SNPs or combined.											
151044	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Walsh, C. S.  et al. 2006	17123590	MDM2 SNP309 homozygous G/G genotype			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Gynecol Oncol    2006	Association between a functional single nucleotide polymorphism in the MDM2 gene and sporadic endometrial cancer risk		164785		CDC	2006	The MDM2 SNP309 homozygous G/G genotype may be a genetic variant that influences sporadic endometrial cancer susceptibility.											
151046	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Petenkaya, A.  et al. 2006	17214373	MDM2-SNP309			Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Turkish		CDC GDP info	4193	Hs.567303			Anticancer Res    2006    26(6C)    4975-7	Lack of association between the MDM2-SNP309 polymorphism and breast cancer risk		164785		CDC	2006												
151048	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Lymphatic Metastasis	12	12q14.3-q15	MDM2	67488246	67520481		Zhou, G.  et al. 2007	17473193	MDM2 SNP309		promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Clin Cancer Res    2007    13(9)    2627-33	MDM2 Promoter SNP309 Is Associated with Risk of Occurrence and Advanced Lymph Node Metastasis of Nasopharyngeal Carcinoma in Chinese Population		164785		CDC	2007	Our findings suggest that the MDM2 SNP309 may be a risk factor for the occurrence and advanced neck lymph node metastasis of NPC in Chinese population.											
151049		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Tsuiki, H.  et al. 2007	17527046				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Neurol Med Chir (Tokyo)    2007    47(5)    203-209	Single Nucleotide Polymorphism 309 Affects Murin-Double-Minute 2 Protein Expression But Not Glioma Tumorigenesis		164785		CDC	2007												
151050		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Toyama, T.  et al. 2007	17537232				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Breast Cancer Res    2007    9(3)    R34	Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients		164785		CDC	2007	The Pro/Pro genotype of TP53 codon 72 appears to be an independent prognostic marker in breast cancer patients.		chemotherapy									
151051	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Heist, R. S.  et al. 2007	17538168				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			J Clin Oncol    2007    25(16)    2243-7	MDM2 polymorphism, survival, and histology in early-stage non-small-cell lung cancer		164785		CDC	2007	Our findings suggest that the G/G genotype of the MDM2 polymorphism is associated with worse OS among early-stage NSCLC patients, particularly those with squamous cell histology.											
151052	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Wilkening, S.  et al. 2007	17553029			promoter	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Br J Dermatol    2007	No association between MDM2 SNP309 promoter polymorphism and basal cell carcinoma of the skin		164785		CDC	2007	These results suggest that the MDM2 SNP309 alone affects neither the risk nor the age at onset of BCC.											
151054		mental retardation	DEVELOPMENTAL	DEV	Angelman Syndrome|Rett Syndrome|Mental Retardation|Prader-Willi Syndrome	X	Xq28	MECP2	152940457	153055772		Tejada, M. I.  et al. 2006	16879196				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			Clin Genet    2006    70(2)    140-4	Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation		300005		CDC	2006												
151055		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Cognition Disorders	X	Xq28	MECP2	152940457	153055772		Campos, M. = Jr et al. 2006	17084570				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2	Brazilian	Brazil	CDC GDP info	4204	Hs.200716			Brain Dev    2006	Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males		300005		CDC	2006												
151056		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Li, M. R.  et al. 2006	17089071				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			J Hum Genet    2006	MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome		300005		CDC	2006												
151057		autism mental retardation	PSYCH	PSY	Mental Retardation|Autistic Disorder	X	Xq28	MECP2	152940457	153055772		Harvey, C. G.  et al. 2006	17171659				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			Am J Med Genet B Neuropsychiatr Genet    2006	Sequence variants within exon 1 of MECP2 occur in females with mental retardation		300005		CDC	2006												
151058		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Fragile X Syndrome	X	Xq28	MECP2	152940457	153055772		Lesca, G.  et al. 2007	17383248				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			Eur J Med Genet    2007	Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation		300005		CDC	2007												
151059		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Zahorakova, D.  et al. 2007	17387578				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			J Hum Genet    2007    52(4)    342-8	Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome		300005		CDC	2007												
151060	N	autism	PSYCH	PSY	Autistic Disorder|Developmental Disabilities	X	Xq28	MECP2	152940457	153055772		Xi, C. Y.  et al. 2007	17413451				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2			CDC GDP info	4204	Hs.200716			Psychiatr Genet    2007    17(2)    113-6	MeCP2 gene mutation analysis in autistic boys with developmental regression		300005		CDC	2007	mutations in the coding sequence of MeCP2 are not a frequent cause of regression in autism.											
151061		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome|Genetic Predisposition to Disease|Stereotypic Movement Disorder	X	Xq28	MECP2	152940457	153055772		Temudo, T.  et al. 2007	17420401				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2		Portugal	CDC GDP info	4204	Hs.200716			Neurology    2007    68(15)    1183-7	Stereotypies in Rett syndrome		300005		CDC	2007	Although symmetric midline hand stereotypies were not specific to patients with an MECP2 mutation, some of the other stereotypies seemed to be more characteristic of this group.											
151063	Y	psychoses	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	X	Xq13	MED12	70255130	70279029			16538184				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1	European		CDC GDP info	9968	Hs.409226			Psychiatr Genet    2006    16(2)    73-6	A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia		300188		CDC	2006												
151064		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	X	Xq13	MED12	70255130	70279029		Philibert, R. A.  et al. 2007	17299734				Mediator of RNA polymerase II transcription, subunit 12 homolog (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005120.1	European		CDC GDP info	9968	Hs.409226			Am J Med Genet B Neuropsychiatr Genet    2007	The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH genetics initiative for schizophrenia sample		300188		CDC	2007	the HOPA(12bp) allele is a risk factor for schizophrenia in subjects of European ancestry and suggest that further studies to define the endophenotype and mechanisms of illness associated with this polymorphism are indicated.											
151065	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		15	15q26	MEF2A	97923737	98071524		Li, J.  et al. 2006	16767660				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDP info	4205	Hs.268675			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    265-8	Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease.		600660		CDC	2006	Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.											
151067	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q26	MEF2A	97923737	98071524		Yuan, H.  et al. 2006	16951497				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDP info	4205	Hs.268675			Zhong Nan Da Xue Xue Bao Yi Xue Ban    2006    31(4)    453-7	MEF2A gene and susceptibility to coronary artery disease in the Chinese people		600660		CDC	2006	The deletion mutation in exon 11 in MEF2A gene may be related to CAD susceptibility in the Chinese population.											
151068		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	15	15q26	MEF2A	97923737	98071524		Han, Y.  et al. 2007	17579569				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1			CDC GDP info	4205	Hs.268675			Clin Chem Lab Med    2007	Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population		600660		CDC	2007	Based on our data, we speculate that the CAG repeat polymorphism is associated with coronary heart disease in the Chinese population and the (CAG)(9) allele may be an independent predictive factor for CAD.											
151070		amyloidosis Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	16	16p13.3	MEFV	3232028	3246628		Mattit, H.  et al. 2006	16627024				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Syria	CDC GDP info	4210	Hs.632221			Eur J Med Genet    2006	Familial Mediterranean fever in the Syrian population		608107		CDC	2006												
151071		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever	16	16p13.3	MEFV	3232028	3246628		Federici, L.  et al. 2006	16707534				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Israeli		CDC GDP info	4210	Hs.632221			Ann Rheum Dis    2006	A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients		608107		CDC	2006	First-line MEFV mutation screening in patients with clinically typical FMF may be appropriate only in particular areas. To optimise genetic diagnosis, we propose a decision tree, which, with the advice of an expert practitioner, could help redirect test indications towards non-FMF hereditary periodic syndromes.											
151072	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	16	16p13.3	MEFV	3232028	3246628		Kozlowski, P.  et al. 2006	16907704				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDP info	4210	Hs.632221			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		608107		CDC	2006												
151074	Y	Behcet's disease thromboembolism, venous	IMMUNE	IMM	Behcet Syndrome|Venous Thrombosis|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Rabinovich, E.  et al. 2007	17454935				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1	Israeli		CDC GDP info	4210	Hs.632221			Scand J Rheumatol    2007    36(1)    48-52	Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis		608107		CDC	2007	MEFV appears to be a susceptibility and modifier gene in BD.											
145353	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9p21	CDKN2A	21957750	21965038		Zeggini, E.  et al. 2007	17463249				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		600160		CDC	2007												
153584	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	8	8q24.11	SLC30A8	118032398	118258134		Zeggini, E.  et al. 2007	17463249				Solute carrier family 30 (zinc transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL713790			CDC GDP info	169026	Hs.532270			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes				CDC	2007												
151078		multiple endocrine neoplasia type 1	CANCER	CAN	Multiple Endocrine Neoplasia Type 1	11	11q13	MEN1	64327569	64335342		Georgitsi, M.  et al. 2007	17519308				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2	German		CDC GDP info	4221	Hs.423348			J Clin Endocrinol Metab    2007	Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia		131100		CDC	2007	A heterozygous 19 bp duplication (c.											
151079	Y	parathyroid cancer	CANCER	CAN		11	11q13	MEN1	64327569	64335342		Haven, C. J.  et al. 2007	17555500				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			CDC GDP info	4221	Hs.423348			Clin Endocrinol (Oxf)    2007	Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas		131100		CDC	2007	These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.											
151080	Y	lupus erythematosus	IMMUNE	IMM	Leukopenia|Lymphopenia|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2		MERTK	112372661	112503416		Cheong, H. S.  et al. 2006	16837475				C-mer proto-oncogene tyrosine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006343.2	Korean		CDC GDP info	10461	Hs.306178			Rheumatology (Oxford)    2006	MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients		604705		CDC	2006	Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients.											
151082		Smith-Magenis syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Abnormalities, Multiple|Chromosome Deletion|Syndrome	17	17p11.2	MFAP4	19227347	19231086		Edelman, E.  et al. 2007	17539903				Microfibrillar-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035560			CDC GDP info	4239	Hs.296049			Clin Genet    2007    71(6)    540-550	Gender, genotype, and phenotype differences in Smith-Magenis syndrome		600596		CDC	2007												
151084		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q24.1-q24.3	MGEA5	103534198	103568165		Cameron, E. A.  et al. 2007	17546623				Meningioma expressed antigen 5 (hyaluronidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012215.1	Spanish;European;Native American		CDC GDP info	10724	Hs.500842			Am J Hum Biol    2007    19(4)    593-596	MGEA5-14 polymorphism and type 2 diabetes in Mexico City		604039		CDC	2007												
151085	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	3	3q21.3	MGLL	128890598	129024741		Iwasaki, S.  et al. 2007	17621164				Monoglyceride lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007283	Japanese;Caucasian		CDC GDP info	11343	Hs.277035			Psychiatr Genet    2007    17(4)    215-220	Association study between alcoholism and endocannabinoid metabolic enzyme genes encoding fatty acid amide hydrolase and monoglyceride lipase in a Japanese population				CDC	2007	Whereas we examined associations in a larger sample size between alcoholism and tag single nucleotide polymorphisms that covered most regions of these endocannabinoid metabolic enzyme genes, we found that these are not associated with susceptibility to alcoholism in a Japanese population.											
151086		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	10	10q26	MGMT	131155455	131455358		Moreno, V.  et al. 2006	16609022				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		156569		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
151087	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Tranah, G. J.  et al. 2006	16633920	MGMT  Leu84Phe and Ile143Val			O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Cancer Causes Control    2006    17(5)    721-31	O(6)-Methylguanine-DNA Methyltransferase Leu84Phe and Ile143Val Polymorphisms and Risk of Colorectal Cancer in the Nurses' Health Study and Physicians' Health Study (United States)		156569		CDC	2006	Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage.											
151088		endometrial cancer	CANCER	CAN	Endometrial Neoplasms|DNA Damage	10	10q26	MGMT	131155455	131455358		Han, J.  et al. 2006	16777993				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Carcinogenesis    2006	Polymorphisms in O6-methylguanine DNA methyltransferase and endometrial cancer risk		156569		CDC	2006			smoking (tobacco)									
151089	Y	breast cancer	CANCER	CAN	Breast Neoplasms	10	10q26	MGMT	131155455	131455358		Han, J.  et al. 2006	16788379	MGMT  Leu84Phe			O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Pharmacogenet Genomics    2006    16(7)    469-474	Polymorphisms in O6-methylguanine DNA methyltransferase and breast cancer risk		156569		CDC	2006	These data suggest that the Leu84Phe polymorphism affect the capacity of MGMT to inhibit estrogen receptor-mediated cell proliferation and is associated with$$$ breast cancer risk.		body mass estradiol hormone replacement therapy smoking (tobacco)									
151090		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Jiao, L.  et al. 2006	16844323				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Cancer Detect Prev    2006	Selected polymorphisms of DNA repair genes and risk of pancreatic cancer		156569		CDC	2006	This study suggests that polymorphisms of genes involved in the repair of alkylating DNA adduct and DNA base damage may play a role in modulating the risk of pancreatic cancer.		smoking (tobacco)									
151091	Y	upper aerodigestive tract cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms	10	10q26	MGMT	131155455	131455358		Hall, J.  et al. 2006	17040931				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Romania, Poland, Russia, Slovakia and the Czech Republic		CDC GDP info	4255	Hs.501522			Carcinogenesis    2006	The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract		156569		CDC	2006												
151093	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Wang, L.  et al. 2006	17164358				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2	Caucasian		CDC GDP info	4255	Hs.501522			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2364-9	Association of Genetic Variants of O6-Methylguanine-DNA Methyltransferase with Risk of Lung Cancer in Non-Hispanic Whites		156569		CDC	2006			smoking (tobacco)									
151094		cervical cancer	CANCER	CAN	Papillomavirus Infections|Cervical Intraepithelial Neoplasia|Uterine Cervical Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Huang, J.  et al. 2007	17234722				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Carcinogenesis    2007	Amino acid substitution polymorphisms of the DNA repair gene MGMT and the susceptibility to cervical carcinoma		156569		CDC	2007			human papillomavirus parity sexual activity									
151096	P		NORMALVARIATION	NV		12	12p13.1-p12.3	MGP	14926093	14930095		Hernandez-Pacheco, G.  et al. 2005	16392639				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2	European;Indian;Mexican		CDC GDP info	4256	Hs.365706			Hum Biol    2005    77(3)    385-91	Matrix gamma-carboxyglutamic acid protein (MGP) G-7A and T-138C gene polymorphisms in Indian (Mayo and Teenek) and Mestizo populations from Mexico		154870		CDC	2005												
151097	N	bone density osteocalcin	METABOLIC	MET	Osteoporosis, Postmenopausal	12	12p13.1-p12.3	MGP	14926093	14930095		Kim, J. G.  et al. 2006	16735944				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2	Korean		CDC GDP info	4256	Hs.365706			Menopause    2006	Relationship of osteocalcin and matrix Gla protein gene polymorphisms to serum osteocalcin levels and bone mineral density in postmenopausal Korean women		154870		CDC	2006	The osteocalcin gene Hind III polymorphism is a genetic factor that is associated with$$$ BMD of the lumbar spine in Korean women, and Gla gene polymorphisms are associated with higher osteocalcin levels.											
151098	Y	kidney stone disease	RENAL	REN	Kidney Calculi|Genetic Predisposition to Disease	12	12p13.1-p12.3	MGP	14926093	14930095		Gao, B.  et al. 2007	17509359				Matrix Gla protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000900.2			CDC GDP info	4256	Hs.365706			J Urol    2007    177(6)    2361-5	A Polymorphism of Matrix Gla Protein Gene is Associated With Kidney Stones		154870		CDC	2007	Our findings show that an MGP gene polymorphism is associated with kidney stones and influences genetic susceptibility to kidney stones.											
151099	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	12	12p12.3-p12.1	MGST1	16391342	16408611		Zhang, H.  et al. 2007	17483957				Microsomal glutathione S-transferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145792.1			CDC GDP info	4257	Hs.389700			Int J Colorectal Dis    2007	Microsomal glutathione S-transferase gene polymorphisms and colorectal cancer risk in a Han Chinese population		138330		CDC	2007	The results suggest that MGST1 polymorphisms may contribute to CRC risk among Han Chinese.											
151100		psoriasis	IMMUNE	IMM	Psoriasis	4	4q28.3	MGST2	140806371	140844856		Yan, K. L.  et al. 2006	16498398				Microsomal glutathione S-transferase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX538128	Chinese;German		CDC GDP info	4258	Hs.81874			J Invest Dermatol    2006	A Novel MGST2 Non-Synonymous Mutation in a Chinese Pedigree with Psoriasis Vulgaris		601733		CDC	2006												
151101	N	psoriasis	IMMUNE	IMM	Psoriasis	4	4q28.3	MGST2	140806371	140844856		Yang, S.  et al. 2006	16773312				Microsomal glutathione S-transferase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX538128			CDC GDP info	4258	Hs.81874			Arch Dermatol Res    2006	Systematic evaluation of association between the microsomal glutathione S-transferase 2 common variation and psoriasis vulgaris in Chinese population		601733		CDC	2006												
151102		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	18	18q11.2	mic1				Hayes, V. M.  et al. 2006	16775185				chromosome 18 open reading frame 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AK024370		Australia	CDC GDP info	29919	Hs.529006			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1223-5	Macrophage Inhibitory Cytokine-1 H6D Polymorphism, Prostate Cancer Risk, and Survival				CDC	2006												
151103	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	6	6p21.3	MICA	31475539	31491069		Lu, M.  et al. 2006	16679067				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Clin Immunol    2006	MICB microsatellite polymorphism is associated with ulcerative colitis in Chinese population		600169		CDC	2006												
151104	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Van Autreve, J. E.  et al. 2006	16698430				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Belgium	CDC GDP info	4276	Hs.549053			Hum Immunol    2006    67(1-2)    94-101	MICA is Associated with Type 1 Diabetes in the Belgian Population, Independent of HLA-DQ		600169		CDC	2006	MICA is associated with type 1 diabetes in the Belgian population and the observed association does not result from the HLA-DQ associated risk.											
151106		asthma lung function	IMMUNE	IMM	Asthma|Lung Diseases, Obstructive	6	6p21.3	MICA	31475539	31491069		Hui, J.  et al. 2006	16776673				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1		Europe	CDC GDP info	4276	Hs.549053			Clin Exp Allergy    2006    36(6)    728-34	AluyMICB dimorphism within the class I region of the major histocompatibility complex is associated with asthma and airflow obstruction in the Busselton population		600169		CDC	2006	These findings suggest the possible involvement of a MHC class I gene in abnormal airway structure in women and airway function in men.											
151107		Behcet's disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	MICA	31475539	31491069		Munoz-Saa, I.  et al. 2006	16784494				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Scand J Immunol    2006    64(1)    77-82	Allelic Diversity and Affinity Variants of MICA are Imbalanced in Spanish Patients with Behcet's Disease		600169		CDC	2006												
151109		leprosy	INFECTION	INF	Leprosy	6	6p21.3	MICA	31475539	31491069		Tosh, K.  et al. 2006	16923796				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Hum Mol Genet    2006	Variation In MICA And MICB Genes And Enhanced Susceptibility To Paucibacillary Leprosy In South India		600169		CDC	2006												
151111		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Lopez-Arbesu, R.  et al. 2006	17003176				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Rheumatology (Oxford)    2006	MHC class I chain-related gene B (MICB) is associated with rheumatoid arthritis susceptibility		600169		CDC	2006	MICB*004 allele was associated with RA susceptibility. This allele was in linkage disequilibrium with HLA-DRB1*0404 and DRB1*0405. The association of MICB with RA susceptibility and the functional role of MIC genes in the pathogenesis of RA converts MICB into a candidate to be an additional MHC gene associated with RA susceptibility.											
151112		Graves' disease Hashimoto's thyroiditis	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	6	6p21.3	MICA	31475539	31491069		Ide, M.  et al. 2007	17221346				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Med Klin (Munich)    2007    102(1)    11-15	Polymorphisms of MICA Microsatellites in Thyroidal Autoimmunity.		600169		CDC	2007	The genotype MICA A5.											
151113		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Alizadeh, B. Z.  et al. 2007	17350686				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Mol Immunol    2007	MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes		600169		CDC	2007												
151115	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Fang, M.  et al. 2007	17523949				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Scand J Immunol    2007    65(6)    559-66	Association of HLA genes with Ankylosing Spondylitis in Han Population of eastern China		600169		CDC	2007												
151116	Y	cytomegalovirus leukemia	INFECTION	INF		6	6p21.3	MICA	31475539	31491069		Huang, B. S.  et al. 2007	17545046				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(4)    509-11	Correlation between MHC class I-related chain A gene *008 allele and human cytomega- lovirus infection		600169		CDC	2007	Individuals with MICA*008 positivity is not liable to HCMV infection, but those with MICA*008 (-) can be vulnerable to HCMV infection, suggesting an inverse correlation between MICA*008 allele with HCMV.											
151117		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Tamaki, S.  et al. 2007	17559497				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			J Oral Pathol Med    2007    36(6)    351-6	An association between the MICA-A5.1 allele and an increased susceptibility to oral squamous cell carcinoma in Japanese patients		600169		CDC	2007	Five alleles, namely A4, A5, A6, A9, and A5.											
151118	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	6	6p21.3	MICB	31573944	31586880		Lu, M.  et al. 2006	16679067				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDP info	4277	Hs.211580			Clin Immunol    2006	MICB microsatellite polymorphism is associated with ulcerative colitis in Chinese population		602436		CDC	2006												
151119		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	MICB	31573944	31586880		Rodriguez-Rodero, S.  et al. 2006	16698444			promoter	MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDP info	4277	Hs.211580			Hum Immunol    2006    67(3)    208-14	MHC class I chain-related gene B promoter polymorphisms and celiac disease		602436		CDC	2006												
151120		asthma lung function	IMMUNE	IMM	Asthma|Lung Diseases, Obstructive	6	6p21.3	MICB	31573944	31586880		Hui, J.  et al. 2006	16776673				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218		Europe	CDC GDP info	4277	Hs.211580			Clin Exp Allergy    2006    36(6)    728-34	AluyMICB dimorphism within the class I region of the major histocompatibility complex is associated with asthma and airflow obstruction in the Busselton population		602436		CDC	2006	These findings suggest the possible involvement of a MHC class I gene in abnormal airway structure in women and airway function in men.											
151121		leprosy	INFECTION	INF	Leprosy	6	6p21.3	MICB	31573944	31586880		Tosh, K.  et al. 2006	16923796				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDP info	4277	Hs.211580			Hum Mol Genet    2006	Variation In MICA And MICB Genes And Enhanced Susceptibility To Paucibacillary Leprosy In South India		602436		CDC	2006												
151122	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	MICB	31573944	31586880		Lopez-Arbesu, R.  et al. 2006	17003176	MICB*004			MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218			CDC GDP info	4277	Hs.211580			Rheumatology (Oxford)    2006	MHC class I chain-related gene B (MICB) is associated with rheumatoid arthritis susceptibility		602436		CDC	2006	MICB*004 allele was associated with RA susceptibility. This allele was in linkage disequilibrium with HLA-DRB1*0404 and DRB1*0405. The association of MICB with RA susceptibility and the functional role of MIC genes in the pathogenesis of RA converts MICB into a candidate to be an additional MHC gene associated with RA susceptibility.											
151123	Y	schizophrenia	PSYCH	PSY	Herpesviridae Infections|Cytomegalovirus Infections|Cognition Disorders|Schizophrenia	6	6p21.3	MICB	31573944	31586880		Shirts, B. H.  et al. 2007	17561376				MHC class I polypeptide-related sequence B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC044218	Caucasian		CDC GDP info	4277	Hs.211580			Schizophr Res    2007	Polymorphisms in MICB are associated with human herpes virus seropositivity and schizophrenia risk		602436		CDC	2007												
151124	Y	cystic fibrosis Peudomonas aeruginosa	OTHER	OTH	Cystic Fibrosis|Disease Progression	22	22q11.23	MIF	22566564	22567409		Plant, B. J.  et al. 2005	16179637				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Am J Respir Crit Care Med    2005    172(11)    1412-5	Cystic fibrosis, disease severity, and a macrophage migration inhibitory factor polymorphism		153620		CDC	2005	The results support the concept of a regulatory role for MIF in CF.											
151126	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409			16538639				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		153620		CDC	2006												
151127	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	22	22q11.23	MIF	22566564	22567409		Sanchez, E.  et al. 2006	16724072				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Genes Immun    2006	Evidence of association of macrophage migration inhibitory factor gene polymorphisms with systemic lupus erythematosus		153620		CDC	2006												
151128	P		NORMALVARIATION	NV		22	22q11.23	MIF	22566564	22567409		Fei, B.  et al. 2006	16767681				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Japanese;Chinese;Caucasian;European		CDC GDP info	4282	Hs.407995			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    343-5	Distribution of MIF -173 single nucleotide polymorphism checked by tetra-primer amplification refractory mutation system.		153620		CDC	2006	Tetra-primer ARMS is an accurate, rapid and economical method for SNP genotyping.There exists ethnic difference in the distribution of MIF -173 SNP alleles.											
151129		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	22	22q11.23	MIF	22566564	22567409		Sakamoto, K.  et al. 2006	16820919			promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		153620		CDC	2006			5-flurouracil cisplatin									
151130	Y	malaria	INFECTION	INF	Parasitemia|Malaria, Falciparum	22	22q11.23	MIF	22566564	22567409		Awandare, G. A.  et al. 2006	16929348			promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Caucasian		CDC GDP info	4282	Hs.407995			Genes Immun    2006	A macrophage migration inhibitory factor promoter polymorphism is associated with high-density parasitemia in children with malaria		153620		CDC	2006												
151132	Y	heart disease, ischemic	CARDIOVASCULAR	CARD		22	22q11.23	MIF	22566564	22567409		Shan, Z.  et al. 2006	17029206				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    548-550	Association of the polymorphism of macrophage migration inhibitory factor gene with coronary heart disease in Chinese population.		153620		CDC	2006	These results suggest that MIF -173G /C polymorphism was associated with CHD in Chinese population, the MIF -173C allele might be a risk factor for CHD in Chinese Han nationality.											
151133	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	22	22q11.23	MIF	22566564	22567409		Oliver, J.  et al. 2007	17172590				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Gut    2007    56(1)    150-1	Association of the macrophage migration inhibitory factor gene polymorphisms with inflammatory bowel disease		153620		CDC	2007												
151134	N	cutaneous vasculitis	RENAL	REN	Kidney Diseases|Purpura, Schoenlein-henoch|Vasculitis, Hypersensitivity|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Amoli, M. M.  et al. 2006	17181929				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Spanish;Caucasian		CDC GDP info	4282	Hs.407995			Clin Exp Rheumatol    2006    24(5)    576-9	Lack of association between macrophage migration inhibitory factor gene (-173 G/C) polymorphism and cutaneous vasculitis		153620		CDC	2006	The polymorphism in MIF gene promoter (-173 G/C) does not appear to be genetic risk factors for cutaneous vasculitis in Northwest Spain.											
151135	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease	22	22q11.23	MIF	22566564	22567409		Dambacher, J.  et al. 2007	17206642	MIF -173G/C		promoter	Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Inflamm Bowel Dis    2007    13(1)    71-82	Macrophage migration inhibitory factor (MIF) -173G/C promoter polymorphism influences upper gastrointestinal tract involvement and disease activity in patients with Crohn's disease		153620		CDC	2007	The MIF -173G/C polymorphism appears to be a factor contributing to a particular CD phenotype characterized by protection against upper gastrointestinal tract involvement and severe disease activity.											
151136	Y	pancreatitis, acute	OTHER	OTH	Pancreatitis|Acute Disease	22	22q11.23	MIF	22566564	22567409		Makhija, R.  et al. 2007	17495357				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Caucasian		CDC GDP info	4282	Hs.407995			JOP    2007    8(3)    289-95	Gene polymorphisms of the macrophage migration inhibitory factor and acute pancreatitis		153620		CDC	2007	The -173 C allele is over expressed in acute pancreatitis, however studies are needed to explore this further. Our distribution of the microsatellite alleles was quite different to a previously reported Caucasian population and needs further study from viewpoint of population genetics.											
151137		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Gomez, L. M.  et al. 2007	17559578				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Caucasian		CDC GDP info	4282	Hs.407995			Tissue Antigens    2007    70(1)    28-33	Macrophage migration inhibitory factor gene influences the risk of developing tuberculosis in northwestern Colombian population		153620		CDC	2007												
151138	Y	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Crohn Disease|Genetic Predisposition to Disease	22	22q11.23	MIF	22566564	22567409		Griga, T.  et al. 2007	17591062	MIF  -173			Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Hepatogastroenterology    2007    54(75)    784-6	A polymorphism in the macrophage migration inhibitory factor gene is involved in the genetic predisposition of Crohn's disease and associated with cumulative steroid doses		153620		CDC	2007	Our data demonstrate the counterregulatory effects of MIF in CD patients and indicate the important role of the SNP G/C at position -173 of the MIF gene for the anti-inflammatory therapy with glucocorticoids.		corticosteroid									
151139	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	17	17p13.2	MINK1	4683350	4742135		Fatini, C.  et al. 2006	16760206				Misshapen-like kinase 1 (zebrafish)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209450			CDC GDP info	50488	Hs.443417			Eur Heart J    2006	Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation		609426		CDC	2006	Our findings suggest a role for minK and eNOS genes as predisposing factors to NVAF.											
151140		atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	17	17p13.2	MINK1	4683350	4742135		Prystupa, A.  et al. 2006	17165161				Misshapen-like kinase 1 (zebrafish)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209450			CDC GDP info	50488	Hs.443417			Kardiol Pol    2006    64(11)    1205-1211	MinK gene polymorphism in the pathogenesis of lone atrial fibrillation		609426		CDC	2006												
151142	N	metabolic syndrome obesity	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity	20	20p12	MKKS	10333832	10362866		Benzinou, M.  et al. 2006	17003356				McKusick-Kaufman syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018848.2	Caucasian;French		CDC GDP info	8195	Hs.472119			Diabetes    2006    55(10)    2876-82	Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians		604896		CDC	2006	our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.											
151143		Meckel syndrome	DEVELOPMENTAL	DEV	Central Nervous System Diseases|Syndrome	17	17q22	MKS1	53637796	53651665		Khaddour, R.  et al. 2007	17397051				Meckel syndrome, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017777	Finnish;French		CDC GDP info	54903	Hs.408843			Hum Mutat    2007    28(5)    523-524	Spectrum of MKS1 and MKS3 mutations in Meckel syndrome		609883		CDC	2007												
151144		Meckel syndrome	DEVELOPMENTAL	DEV	Central Nervous System Diseases|Syndrome	8	8q22.1	MKS3	94836320	94840871		Khaddour, R.  et al. 2007	17397051				transmembrane protein 67	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=BX648768	Finnish;French		CDC GDP info	91147	Hs.116240			Hum Mutat    2007    28(5)    523-524	Spectrum of MKS1 and MKS3 mutations in Meckel syndrome		609884		CDC	2007												
151145	Y	bipolar disorder catatonia schizophrenia	PSYCH	PSY	Chronic Disease|Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia, Catatonic	22	22q13.33	MLC1	48839946	48866485		Selch, S.  et al. 2007	17210142				Megalencephalic leukoencephalopathy with subcortical cysts 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015166			CDC GDP info	23209	Hs.517729			Biol Psychiatry    2007	MLC1Polymorphisms Are Specifically Associated with Periodic Catatonia, a Subgroup of Chronic Schizophrenia		605908		CDC	2007	The MLC1 variation is associated with periodic catatonia; whether it constitutes a susceptibility or a modifier gene has to be determined.											
151146	Y	longevity	AGING	AGE		3	3p21.3	MLH1	37009982	37067341		Kim, D. J.  et al. 2006	16474933				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Hum Genet    2006        1-2	Association between the MLH1 gene and longevity		120436		CDC	2006												
151147		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Microsatellite Instability	3	3p21.3	MLH1	37009982	37067341		Niessen, R. C.  et al. 2006	16636019				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Gut    2006    55(12)    1781-8	Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer		120436		CDC	2006	Family history, MSI analysis and IHC are indicative parameters to select patients with CRC for MMR gene mutation analysis.											
151148		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Rodriguez-Moranta, F.  et al. 2006	16696788				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Spain	CDC GDP info	4292	Hs.195364			Am J Gastroenterol    2006    101(5)    1104-11	Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer		120436		CDC	2006	Original and revised Bethesda guidelines are equivalent, highly effective criteria for the identification of MSH2/MLH1 gene mutation carriers in patients with newly diagnosed colorectal cancer. A new set of recommendations, based on a combination of some of their individual criteria, may provide additional advantages in terms of effectiveness.											
151149		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Duodenal Neoplasms|Ileal Neoplasms|Jejunal Neoplasms|Neoplasms, Second Primary	3	3p21.3	MLH1	37009982	37067341		Park, J. G.  et al. 2006	16740762				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Clin Cancer Res    2006    12(11)    3389-93	Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer		120436		CDC	2006	In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens.											
151150	N	colon polyps colorectal cancer	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Yu, J. H.  et al. 2006	16771955				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Am J Gastroenterol    2006    101(6)    1313-9	Mismatch Repair Polymorphisms and Colorectal Polyps		120436		CDC	2006	no evidence of an association between any of the three polymorphisms or hMLH1 haplotypes and colorectal polyps was observed.		smoking (tobacco)									
151152		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Barnetson, R. A.  et al. 2006	16807412				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			N Engl J Med    2006    354(26)    2751-63	Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer		120436		CDC	2006	We devised and validated a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes.											
151153		endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms	3	3p21.3	MLH1	37009982	37067341		Hampel, H.  et al. 2006	16885385				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Cancer Res    2006    66(15)    7810-7	Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients		120436		CDC	2006	in central Ohio, at least 1.											
151154		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Zhang, Y.  et al. 2006	16929514				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Int J Cancer    2006	Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China		120436		CDC	2006												
151155	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	3	3p21.3	MLH1	37009982	37067341		Beiner, M. E.  et al. 2006	16985024				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1636-40	Endometrial Cancer Risk Is Associated with Variants of the Mismatch Repair Genes MLH1 and MSH2		120436		CDC	2006	two common variant alleles of the MLH1 and MSH2 genes make a substantial contribution to endometrial cancer incidence in Ontario.											
151157		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Landi, S.  et al. 2006	17108146				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Cancer Res    2006    66(22)    11062-11069	DNA Repair and Cell Cycle Control Genes and the Risk of Young-Onset Lung Cancer		120436		CDC	2006												
151158		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3p21.3	MLH1	37009982	37067341		Berndt, S. I.  et al. 2007	17205513				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Int J Cancer    2007    120(7)    1548-54	Mismatch repair polymorphisms and the risk of colorectal cancer		120436		CDC	2007												
151159		Lynch syndrome	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Kruger, S.  et al. 2007	17224235				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Cancer Lett    2007	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1		120436		CDC	2007												
151161		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	3	3p21.3	MLH1	37009982	37067341		Irmejs, A.  et al. 2007	17348456				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Latvia	CDC GDP info	4292	Hs.195364			Anticancer Res    2007    27(1B)    653-8	Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia		120436		CDC	2007	The role of the classical Amsterdam criteria in diagnosing HNPCC in CRC patients from Latvia is very limited and diagnostic criteria for suspected HNPCC are the most effective.											
151162		colorectal cancer	CANCER	CAN	Colonic Neoplasms	3	3p21.3	MLH1	37009982	37067341		Schafmayer, C.  et al. 2007	17417778				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2	German		CDC GDP info	4292	Hs.195364			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		120436		CDC	2007												
151164	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	14	14q24.3	MLH3	74550219	74587988		Michiels, S.  et al. 2007	17494052				MutL homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040108.1	Caucasian		CDC GDP info	27030	Hs.436650			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		604395		CDC	2007												
151165		leukemia, myeloid myelodysplastic syndrome	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Disease Progression	11	11q23	MLL	117812414	117902749		Bacher, U.  et al. 2007	17550846				Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005933.2			CDC GDP info	4297	Hs.258855			Haematologica    2007    92(6)    744-52	A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia		159555		CDC	2007	The increase of molecular mutations from low- to high-risk MDS, to s-AML, and to relapsed AML emphasizes the value of these mutations as markers of progressing disease. Finally, we found a low rate of 5q- in the molecularly mutated cases in MDS which might explain the stability of this subtype.											
151166		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	2	2q37.3	MLPH	238059791	238128700		Park, J. W.  et al. 2006	16415175				Melanophilin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024101			CDC GDP info	79083	Hs.102406			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		606526		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
151167		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		3	3q25.1-q25.2	MME	156280129	156384212		Comings, D. E.  et al. 2000	11140838				Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000902			CDC GDP info	4311	Hs.307734			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		120520		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
151168		gastric ulcer	INFECTION	INF	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104			16405530				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		Germany	CDC GDP info	4312	Hs.83169			Am J Gastroenterol    2006    101(1)    29-35	Genetic variants in matrix metalloproteinase genes are associated with development of gastric ulcer in h. Pylori infection		120353		CDC	2006	The level of association found in this study is in agreement with the nature of a complex genetic disease.											
151169	N	aging	AGING	AGE		11	11q22.3	MMP1	102165860	102174104			16424284			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		120353		CDC	2005												
151170		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104			16532917			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Caucasian;Italian		CDC GDP info	4312	Hs.83169			Acta Obstet Gynecol Scand    2006    85(2)    212-7	Analysis of two polymorphisms in the promoter region of matrix metalloproteinase 1 and 3 genes in women with endometriosis		120353		CDC	2006	This is the first study that has evaluated the possibility that gene variants of matrix metalloproteinases might be involved in the susceptibility to endometriosis.											
151172	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms	11	11q22.3	MMP1	102165860	102174104		Takemura, N.  et al. 2006	16638593			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Soc Gynecol Investig    2006    13(3)    232-6	Matrix metalloproteinase-1 and -9 promoter polymorphisms are not associated with an increased risk of uterine leiomyomas in a Japanese population		120353		CDC	2006	These findings suggest that MMP-1 and MMP-9 promoter polymorphisms are unlikely to be associated with an increased risk of uterine leiomyomas in Japanese women.											
151173		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM		11	11q22.3	MMP1	102165860	102174104		Zhang, R. B.  et al. 2005	16676616				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(11)    907-10	Study on matrix metalloproteinase 1, 9, 12 polymorphisms and susceptibility to chronic obstructive pulmonary disease among Han nationality in northern China		120353		CDC	2005	Asn/Asn, CT/AsnAsn might be susceptible genotypes while CC/GG/SerSer might serve as protective genotype.											
151174	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Elander, N.  et al. 2006	16739355			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Anticancer Res    2006    26(1B)    791-5	Matrix metalloproteinase (MMP) -1, -2, -3 and -9 promoter polymorphisms in colorectal cancer		120353		CDC	2006	The MMP-1 promoter polymorphism seems to affect the susceptibility to CRC, while MMP-2, -3 and -9 polymorphisms appear less likely to have any impact on CRC.											
151176		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Cao, Z.  et al. 2006	16774538			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2		China	CDC GDP info	4312	Hs.83169			Tissue Antigens    2006    68(1)    38-43	MMP-1 promoter gene polymorphism and susceptibility to chronic periodontitis in a Chinese population		120353		CDC	2006												
151177	N	periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Chronic Disease|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Astolfi, C. M.  et al. 2006	16899023				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Brazilian		CDC GDP info	4312	Hs.83169			J Clin Periodontol    2006	Genetic polymorphisms in the MMP-1 and MMP-3 gene may contribute to chronic periodontitis in a Brazilian population		120353		CDC	2006	On the basis of the results, no significant association is found for the MMP-1 polymorphisms with susceptibility of periodontitis, while the MMP-3 gene polymorphism may contribute to periodontal tissue destruction during periodontitis in Brazilian subjects.											
151178	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Xu, E.  et al. 2006	16937230			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Dis Colon Rectum    2006	No Association Between the Polymorphisms in Matrix Metalloproteinase-1 and Matrix Metalloproteinase-3 Promoter Regions and Colorectal Cancer in Chinese		120353		CDC	2006	Our present data suggest that the matrix metalloproteinase-1 and matrix metalloproteinase-3 promoter polymorphisms may not be useful markers to predicate susceptibility of colorectal cancer in Chinese.											
151179	N	gingival overgrowth	UNKNOWN	UNK	Gingival Overgrowth	11	11q22.3	MMP1	102165860	102174104		Kurzawski, M.  et al. 2006	16945025				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Periodontol    2006    77(9)    1498-1502	Matrix Metalloproteinase-1 Gene Polymorphism in Renal Transplant Patients With and Without Gingival Enlargement		120353		CDC	2006	No association between the MMP-1 gene polymorphism and gingival enlargement was revealed in kidney transplant patients who were administered cyclosporin A as a principal immunosuppressive agent.											
151181	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung	11	11q22.3	MMP1	102165860	102174104		Heist, R. S.  et al. 2006	17000679				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Clin Cancer Res    2006    12(18)    5448-53	Matrix metalloproteinase polymorphisms and survival in stage I non-small cell lung cancer		120353		CDC	2006	Our results show that patients with stage I NSCLC carrying the variant G allele of the MMP-12 1082A/G polymorphism have worse survival.											
151182		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Lei, H.  et al. 2006	17033924			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		120353		CDC	2006												
151183	Y	Alzheimer's disease dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	11	11q22.3	MMP1	102165860	102174104		Flex, A.  et al. 2006	17077200				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Gerontol A Biol Sci Med Sci    2006    61(10)    1065-9	Analysis of functional polymorphisms of metalloproteinase genes in persons with vascular dementia and Alzheimer's disease		120353		CDC	2006	Our study suggests that MMP gene polymorphisms are associated with VAD and AD, although these results need to be treated with caution until replicated.											
151185	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Disease Progression	11	11q22.3	MMP1	102165860	102174104		Sun, T.  et al. 2006	17145822				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Clin Cancer Res    2006    12(23)    7009-17	Haplotypes in matrix metalloproteinase gene cluster on chromosome 11q22 contribute to the risk of lung cancer development and progression		120353		CDC	2006	The observed multiple cancer-associated genetic variants suggested that the MMP1-MMP3-MMP12 gene cluster plays important roles in lung cancer development and progression.											
151186		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q22.3	MMP1	102165860	102174104		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Caucasian	United States	CDC GDP info	4312	Hs.83169			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		120353		CDC	2006			smoking (tobacco)									
151187	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	11	11q22.3	MMP1	102165860	102174104		Hettiaratchi, A.  et al. 2007	17311017	MMP1  - 1607/2G		promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Br J Cancer    2007	The collagenase-1 (MMP-1) gene promoter polymorphism - 1607/2G is associated with favourable prognosis in patients with colorectal cancer		120353		CDC	2007												
151188	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Vairaktaris, E.  et al. 2007	17352267				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	European;German;Greek		CDC GDP info	4312	Hs.83169			Anticancer Res    2007    27(1A)    459-64	Association of matrix metalloproteinase-1 (-1607 1G/2G) polymorphism with increased risk for oral squamous cell carcinoma		120353		CDC	2007	These findings suggest a significant involvement of the MMP-1 -1607 1G/2G polymorphism in the increasing risk for oral cancer in the 1G allele European carriers.											
151189		aseptic loosening post hip replacement osteolysis	METABOLIC	MET	Prosthesis-Related Infections|Osteolysis|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Malik, M. H.  et al. 2007	17363400				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Caucasian		CDC GDP info	4312	Hs.83169			Ann Rheum Dis    2007	Genetic susceptibility to total hip replacement failure- Preliminary study on the influence of matrix metalloproteinase-1, interleukin-6 and vitamin D receptor polymorphisms		120353		CDC	2007	Aseptic loosening and possibly deep infection of THR may be due to the genetic influence of candidate susceptibility genes.											
151191	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP1	102165860	102174104		Ye, S.  et al. 2007	17373931				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Int J Immunogenet    2007    34(2)    81-85	Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis		120353		CDC	2007												
151192	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q22.3	MMP1	102165860	102174104		Bauters, C.  et al. 2007	17383306				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		120353		CDC	2007												
151193	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	11	11q22.3	MMP1	102165860	102174104		Ju, W.  et al. 2007	17441888			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	European;Korean		CDC GDP info	4312	Hs.83169			J Obstet Gynaecol Res    2007    33(2)    155-60	Matrix metalloproteinase-1 promoter polymorphism and epithelial ovarian cancer		120353		CDC	2007	Our results indicate that MMP-1-1607 bp polymorphism shows ethnic diversity, and that the hypothesis that this polymorphism is associated with epithelial ovarian cancer is not supported by this study in a Korean population. Moreover, this finding concurs with results obtained in white Americans and Europeans.											
151194	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	11	11q22.3	MMP1	102165860	102174104		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2	Caucasian		CDC GDP info	4312	Hs.83169			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		120353		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151196	N	cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		11	11q22.3	MMP1	102165860	102174104		Letra, A.  et al. 2007	17537400				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Arch Oral Biol    2007	MMP gene polymorphisms as contributors for cleft lip/palate		120353		CDC	2007	An association between a polymorphism in MMP3 gene and CL/P has been observed. Although the extent to which this polymorphism may actually contribute to the affected cleft status is yet to be clarified, polymorphisms of MMP genes may be good candidates as genetic factors for their role in active ECM remodelling.											
151198	Y	nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Nasr, H. B.  et al. 2007	17599818			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Clin Chim Acta    2007	Matrix metalloproteinase-1 (-1607) 1G/2G and -9 (-1562) C/T promoter polymorphisms		120353		CDC	2007	The genetic variation in MMP-1 may represent a marker for the increased risk of nasopharyngeal carcinoma.											
151199	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		120353		CDC	2007			smoking (tobacco)									
151200		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM		11	11q22.3	MMP12	102238673	102250922		Zhang, R. B.  et al. 2005	16676616				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDP info	4321	Hs.1695			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(11)    907-10	Study on matrix metalloproteinase 1, 9, 12 polymorphisms and susceptibility to chronic obstructive pulmonary disease among Han nationality in northern China		601046		CDC	2005	Asn/Asn, CT/AsnAsn might be susceptible genotypes while CC/GG/SerSer might serve as protective genotype.											
151201	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung	11	11q22.3	MMP12	102238673	102250922		Heist, R. S.  et al. 2006	17000679	variant G allele of the MMP12 1082A/G			Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDP info	4321	Hs.1695			Clin Cancer Res    2006    12(18)    5448-53	Matrix metalloproteinase polymorphisms and survival in stage I non-small cell lung cancer		601046		CDC	2006	Our results show that patients with stage I NSCLC carrying the variant G allele of the MMP-12 1082A/G polymorphism have worse survival.											
151203		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	11	11q22.3	MMP12	102238673	102250922		Powell, J. T.  et al. 2006	17182940				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDP info	4321	Hs.1695			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		601046		CDC	2006												
151204	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP12	102238673	102250922		Ye, S.  et al. 2007	17373931				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDP info	4321	Hs.1695			Int J Immunogenet    2007    34(2)    81-85	Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis		601046		CDC	2007												
151205	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	11	11q22.3	MMP12	102238673	102250922		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2	Caucasian		CDC GDP info	4321	Hs.1695			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		601046		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151206	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP12	102238673	102250922		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2			CDC GDP info	4321	Hs.1695			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		601046		CDC	2007			smoking (tobacco)									
151208	Y	esophageal cancer gastric cardiac cancer	CANCER	CAN		11	11q22.3	MMP13	102318933	102331672		Zhang, X. J.  et al. 2006	17138534				Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDP info	4322	Hs.2936			Yi Chuan    2006    28(12)    1500-4	The Association of MMP-13 Polymorphism with Susceptibility to Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adeno-carcinoma.		600108		CDC	2006			smoking (tobacco)									
151209	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP13	102318933	102331672		Ye, S.  et al. 2007	17373931				Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDP info	4322	Hs.2936			Int J Immunogenet    2007    34(2)    81-85	Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis		600108		CDC	2007												
151210	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP13	102318933	102331672		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDP info	4322	Hs.2936			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		600108		CDC	2007			smoking (tobacco)									
151212	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Xu, E.  et al. 2006	16456793				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    78-81	The correlation between polymorphisms of matrix metalloproteinase-2 and -9 genes and colorectal cancer of Chinese Patients.		120360		CDC	2006	Our results indicate that MMP-2 -1306 C/T polymorphism may be associated with genetic susceptibility to colorectal cancer and the invasive capability of colorectal cancer in Chinese patients. And it is easier for the CC genotype cancer to invade through bowel wall.											
151213	N	abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Hinterseher, I.  et al. 2006	16458924				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			J Surg Res    2006	Matrix Metalloproteinase 2 Polymorphisms in a Caucasian Population with Abdominal Aortic Aneurysm		120360		CDC	2006	Our analysis of the entire coding region and three parts of the promoter of the MMP2 gene failed to show an association between genetic polymorphisms and AAA, suggesting that variations in the MMP2 gene do not contribute to the development of AAA.											
151214	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Elander, N.  et al. 2006	16739355			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Anticancer Res    2006    26(1B)    791-5	Matrix metalloproteinase (MMP) -1, -2, -3 and -9 promoter polymorphisms in colorectal cancer		120360		CDC	2006	The MMP-1 promoter polymorphism seems to affect the susceptibility to CRC, while MMP-2, -3 and -9 polymorphisms appear less likely to have any impact on CRC.											
151216		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	16	16q13-q21	MMP2	54070588	54098104		Kubben, F. J.  et al. 2006	16940985				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		120360		CDC	2006												
151217	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage	16	16q13-q21	MMP2	54070588	54098104		Pannu, H.  et al. 2006	16961137				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Caucasian		CDC GDP info	4313	Hs.513617			J Neurosurg    2006    105(3)    418-23	The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms		120360		CDC	2006	The study findings support a role for MMP-9, but not MMP-2, in the pathogenesis of intracranial aneurysms.											
151218	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung	16	16q13-q21	MMP2	54070588	54098104		Heist, R. S.  et al. 2006	17000679				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Clin Cancer Res    2006    12(18)    5448-53	Matrix metalloproteinase polymorphisms and survival in stage I non-small cell lung cancer		120360		CDC	2006	Our results show that patients with stage I NSCLC carrying the variant G allele of the MMP-12 1082A/G polymorphism have worse survival.											
151219		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Lei, H.  et al. 2006	17033924			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		120360		CDC	2006												
151220		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16q13-q21	MMP2	54070588	54098104		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Caucasian	United States	CDC GDP info	4313	Hs.513617			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		120360		CDC	2006			smoking (tobacco)									
151222		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	16	16q13-q21	MMP2	54070588	54098104		Rollin, J.  et al. 2007	17208328			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Lung Cancer    2007	Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer		120360		CDC	2007												
151223	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Neoplasm, Residual	16	16q13-q21	MMP2	54070588	54098104		Wu, C. Y.  et al. 2007	17236757				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Eur J Cancer    2007	Clinicopathological significance of MMP-2 and TIMP-2 genotypes in gastric cancer		120360		CDC	2007	Our results suggest MMP-2 and TIMP-2 genotypes play a crucial role in gastric cancer invasion, but not with development of gastric cancer.											
151224		aseptic loosening post hip replacement osteolysis	METABOLIC	MET	Prosthesis-Related Infections|Osteolysis|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Malik, M. H.  et al. 2007	17363400				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Caucasian		CDC GDP info	4313	Hs.513617			Ann Rheum Dis    2007	Genetic susceptibility to total hip replacement failure- Preliminary study on the influence of matrix metalloproteinase-1, interleukin-6 and vitamin D receptor polymorphisms		120360		CDC	2007	Aseptic loosening and possibly deep infection of THR may be due to the genetic influence of candidate susceptibility genes.											
151225		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Gremlich, S.  et al. 2007	17367869				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			J Reprod Immunol    2007	Fetal MMP2/MMP9 polymorphisms and intrauterine growth restriction risk		120360		CDC	2007												
151227		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Chen, D.  et al. 2007	17448043				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			J Clin Periodontol    2007    34(5)    384-9	MMP-2, MMP-9 and TIMP-2 gene polymorphisms in Chinese patients with generalized aggressive periodontitis		120360		CDC	2007	It is suggested that the TIMP2 -418G to C gene polymorphism is associated with G-AgP in the Chinese subjects.											
151228	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	16	16q13-q21	MMP2	54070588	54098104		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2	Caucasian		CDC GDP info	4313	Hs.513617			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		120360		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151230	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Xu, E.  et al. 2007	17546628			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Mol Carcinog    2007	Association of matrix metalloproteinase-2 and -9 promoter polymorphisms with colorectal cancer in Chinese		120360		CDC	2007												
151232	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		120360		CDC	2007			smoking (tobacco)									
151233		gastric ulcer	INFECTION	INF	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552			16405530				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Germany	CDC GDP info	4314	Hs.375129			Am J Gastroenterol    2006    101(1)    29-35	Genetic variants in matrix metalloproteinase genes are associated with development of gastric ulcer in h. Pylori infection		185250		CDC	2006	The level of association found in this study is in agreement with the nature of a complex genetic disease.											
151234	N	aging	AGING	AGE		11	11q22.3	MMP3	102211737	102219552			16424284			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		185250		CDC	2005												
151235	Y	oral cancer oral submucous fibrosis	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Lymphatic Metastasis|Oral Submucous Fibrosis|Disease Susceptibility	11	11q22.3	MMP3	102211737	102219552		Tu, H. F.  et al. 2006	16430740				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Asian		CDC GDP info	4314	Hs.375129			J Oral Pathol Med    2006    35(2)    99-103	The functional (-1171 5A-->6A) polymorphisms of matrix metalloproteinase 3 gene as a risk factor for oral submucous fibrosis among male areca users		185250		CDC	2006	The results indicated that the 5A genotype of MMP3 promoter was associated with the risk of OSF but not OSCC.											
151236		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552			16532917			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Caucasian;Italian		CDC GDP info	4314	Hs.375129			Acta Obstet Gynecol Scand    2006    85(2)    212-7	Analysis of two polymorphisms in the promoter region of matrix metalloproteinase 1 and 3 genes in women with endometriosis		185250		CDC	2006	This is the first study that has evaluated the possibility that gene variants of matrix metalloproteinases might be involved in the susceptibility to endometriosis.											
151237	Y	matrix metalloproteinase-3 concentration myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Samnegard, A.  et al. 2006	16629857	MMP3 -1612 5A/6A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Intern Med    2006    259(5)    530-6	Lower serum concentration of matrix metalloproteinase-3 in the acute stage of myocardial infarction		185250		CDC	2006	Serum concentration of MMP-3 is significantly lower in the acute stage of MI than during recovery and is significantly influenced by -1612 5A/6A genotype and gender. Together with previous findings, these results primarily implicate MMP-3 in atherosclerosis progression rather than in acute MI.											
151238	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Elander, N.  et al. 2006	16739355			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Anticancer Res    2006    26(1B)    791-5	Matrix metalloproteinase (MMP) -1, -2, -3 and -9 promoter polymorphisms in colorectal cancer		185250		CDC	2006	The MMP-1 promoter polymorphism seems to affect the susceptibility to CRC, while MMP-2, -3 and -9 polymorphisms appear less likely to have any impact on CRC.											
151239	Y	periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Chronic Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Astolfi, C. M.  et al. 2006	16899023				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Brazilian		CDC GDP info	4314	Hs.375129			J Clin Periodontol    2006	Genetic polymorphisms in the MMP-1 and MMP-3 gene may contribute to chronic periodontitis in a Brazilian population		185250		CDC	2006	On the basis of the results, no significant association is found for the MMP-1 polymorphisms with susceptibility of periodontitis, while the MMP-3 gene polymorphism may contribute to periodontal tissue destruction during periodontitis in Brazilian subjects.											
151241	N	myopia	VISION	VIS	Myopia	11	11q22.3	MMP3	102211737	102219552		Liang, C. L.  et al. 2006	16935611				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Taiwan	CDC GDP info	4314	Hs.375129			Am J Ophthalmol    2006    142(3)    518-20	Evaluation of MMP3 and TIMP1 as Candidate Genes for High Myopia in Young Taiwanese Men		185250		CDC	2006	The two genes may not play a crucial role for high myopia in young Taiwanese men.											
151242	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Xu, E.  et al. 2006	16937230			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Dis Colon Rectum    2006	No Association Between the Polymorphisms in Matrix Metalloproteinase-1 and Matrix Metalloproteinase-3 Promoter Regions and Colorectal Cancer in Chinese		185250		CDC	2006	Our present data suggest that the matrix metalloproteinase-1 and matrix metalloproteinase-3 promoter polymorphisms may not be useful markers to predicate susceptibility of colorectal cancer in Chinese.											
151243		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypertension metabolic syndrome obesity stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Yamada, Y.  et al. 2006	16998253				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Japan	CDC GDP info	4314	Hs.375129			Circ J    2006    70(10)    1240-8	Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke		185250		CDC	2006	Identification of gene polymorphisms that confer susceptibility to cardiovascular diseases or stroke and the development of genetic risk diagnosis systems may contribute to the personalized prevention of these conditions.											
151244	N	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung	11	11q22.3	MMP3	102211737	102219552		Heist, R. S.  et al. 2006	17000679				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Clin Cancer Res    2006    12(18)    5448-53	Matrix metalloproteinase polymorphisms and survival in stage I non-small cell lung cancer		185250		CDC	2006	Our results show that patients with stage I NSCLC carrying the variant G allele of the MMP-12 1082A/G polymorphism have worse survival.											
151245		leukoaraiosis volume	NEUROLOGICAL	NEUR	Brain Ischemia|Genetic Predisposition to Disease|Leukoaraiosis	11	11q22.3	MMP3	102211737	102219552		Fornage, M.  et al. 2006	17024375				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	non-Hispanic		CDC GDP info	4314	Hs.375129			Hum Genet    2006	Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury		185250		CDC	2006												
151247		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Lei, H.  et al. 2006	17033924			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		185250		CDC	2006												
151248		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Gerger, A.  et al. 2006	17058024				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Breast Cancer Res Treat    2006	A multigenic approach to predict breast cancer risk		185250		CDC	2006												
151249	Y	Alzheimer's disease dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	11	11q22.3	MMP3	102211737	102219552		Flex, A.  et al. 2006	17077200				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Gerontol A Biol Sci Med Sci    2006    61(10)    1065-9	Analysis of functional polymorphisms of metalloproteinase genes in persons with vascular dementia and Alzheimer's disease		185250		CDC	2006	Our study suggests that MMP gene polymorphisms are associated with VAD and AD, although these results need to be treated with caution until replicated.											
151250	Y	colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms	11	11q22.3	MMP3	102211737	102219552		Lievre, A.  et al. 2006	17125518			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			BMC Cancer    2006    6(1)    270	Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma		185250		CDC	2006	These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.											
151251		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	11	11q22.3	MMP3	102211737	102219552		Coolman, M.  et al. 2006	17137622				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Placenta    2006	Matrix Metalloproteinase-9 Gene -1562C/T Polymorphism Mitigates Preeclampsia		185250		CDC	2006												
151253		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q22.3	MMP3	102211737	102219552		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Caucasian	United States	CDC GDP info	4314	Hs.375129			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		185250		CDC	2006			smoking (tobacco)									
151254		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	11	11q22.3	MMP3	102211737	102219552		Powell, J. T.  et al. 2006	17182940				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		185250		CDC	2006												
151256		acute coronary syndrome atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Nanni, S.  et al. 2007	17320799				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Transl Res    2007    149(3)    137-44	Matrix metalloproteinases in premature coronary atherosclerosis		185250		CDC	2007	MMP and TIMP plasma levels in premature CAD are linked to clinical presentation and markers of inflammation and metabolic disorders rather than to genetic polymorphisms.											
151257	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q22.3	MMP3	102211737	102219552		Ye, S.  et al. 2007	17373931				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Int J Immunogenet    2007    34(2)    81-85	Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis		185250		CDC	2007												
151258		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Kara, I.  et al. 2007	17381556				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Turkey	CDC GDP info	4314	Hs.375129			Cephalalgia    2007    27(3)    235-43	Combined effects of ACE and MMP-3 polymorphisms on migraine development		185250		CDC	2007												
151259	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	11	11q22.3	MMP3	102211737	102219552		Bauters, C.  et al. 2007	17383306				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		185250		CDC	2007												
151261	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	11	11q22.3	MMP3	102211737	102219552		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3	Caucasian		CDC GDP info	4314	Hs.375129			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		185250		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151262		brain cancer	CANCER	CAN	Astrocytoma|Brain Neoplasms	11	11q22.3	MMP3	102211737	102219552		Lu, Z.  et al. 2007	17502998			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Neurooncol    2007	Polymorphisms in the matrix metalloproteinase-1, 3, and 9 promoters and susceptibility to adult astrocytoma in northern China		185250		CDC	2007												
151263	Y	cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		11	11q22.3	MMP3	102211737	102219552		Letra, A.  et al. 2007	17537400				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Arch Oral Biol    2007	MMP gene polymorphisms as contributors for cleft lip/palate		185250		CDC	2007	An association between a polymorphism in MMP3 gene and CL/P has been observed. Although the extent to which this polymorphism may actually contribute to the affected cleft status is yet to be clarified, polymorphisms of MMP genes may be good candidates as genetic factors for their role in active ECM remodelling.											
151265	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Meijer, M. J.  et al. 2007	17589947				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		185250		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
151266	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		185250		CDC	2007			smoking (tobacco)									
151267		oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Oral Submucous Fibrosis	11	11q22.3	MMP3	102211737	102219552		Tu, H. F.  et al. 2007	17617834			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Oral Pathol Med    2007    36(7)    409-14	Functional -1562 C-to-T polymorphism in matrix metalloproteinase-9 (MMP-9) promoter is associated with the risk for oral squamous cell carcinoma in younger male areca users		185250		CDC	2007	Aberrant MMP-9 expression is closely related to tumor invasiveness and the prognosis of head and neck cancers. However, functional MMP-9-1562 C>T polymorphism is associated with OSCC risk only in younger areca chewers. The impact of aging or areca-related effect on this functional polymorphism should be elucidated. J Oral Pathol Med (2007).											
151268		gastric ulcer	INFECTION	INF	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	11	11q21-q22	MMP7	101896448	101906688			16405530				Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3		Germany	CDC GDP info	4316	Hs.2256			Am J Gastroenterol    2006    101(1)    29-35	Genetic variants in matrix metalloproteinase genes are associated with development of gastric ulcer in h. Pylori infection		178990		CDC	2006	The level of association found in this study is in agreement with the nature of a complex genetic disease.											
151269		adenomyosis endometriosis	REPRODUCTION	REP		11	11q21-q22	MMP7	101896448	101906688		Shan, K.  et al. 2006	16455621			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			Mol Hum Reprod    2006	Polymorphisms in the promoter regions of the matrix metalloproteinases-7, -9 and the risk of endometriosis and adenomyosis in China		178990		CDC	2006												
151270		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	11	11q21-q22	MMP7	101896448	101906688		Kubben, F. J.  et al. 2006	16940985				Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		178990		CDC	2006												
151272	N	colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms	11	11q21-q22	MMP7	101896448	101906688		Lievre, A.  et al. 2006	17125518			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			BMC Cancer    2006    6(1)    270	Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma		178990		CDC	2006	These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.											
151273	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	11	11q21-q22	MMP7	101896448	101906688		Ye, S.  et al. 2007	17373931				Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			Int J Immunogenet    2007    34(2)    81-85	Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis		178990		CDC	2007												
151275		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	11	11q22.3	MMP8	102088539	102100868		Kubben, F. J.  et al. 2006	16940985				Matrix metallopeptidase 8 (neutrophil collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002424.1			CDC GDP info	4317	Hs.161839			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		120355		CDC	2006												
151276		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q22.3	MMP8	102088539	102100868		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 8 (neutrophil collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002424.1	Caucasian	United States	CDC GDP info	4317	Hs.161839			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		120355		CDC	2006			smoking (tobacco)									
151277	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	11	11q22.3	MMP8	102088539	102100868		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 8 (neutrophil collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002424.1	Caucasian		CDC GDP info	4317	Hs.161839			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		120355		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151279		adenomyosis endometriosis	REPRODUCTION	REP		20	20q11.2-q13.1	MMP9	44070953	44078607		Shan, K.  et al. 2006	16455621			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Mol Hum Reprod    2006	Polymorphisms in the promoter regions of the matrix metalloproteinases-7, -9 and the risk of endometriosis and adenomyosis in China		120361		CDC	2006												
151280		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Xu, E.  et al. 2006	16456793				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    78-81	The correlation between polymorphisms of matrix metalloproteinase-2 and -9 genes and colorectal cancer of Chinese Patients.		120361		CDC	2006	Our results indicate that MMP-2 -1306 C/T polymorphism may be associated with genetic susceptibility to colorectal cancer and the invasive capability of colorectal cancer in Chinese patients. And it is easier for the CC genotype cancer to invade through bowel wall.											
151281	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Intracranial Arteriosclerosis|Hypertension|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Fiotti, N.  et al. 2006	16574900	MMP-9    microsatellite  (> or =22 CA)			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Arterioscler Thromb Vasc Biol    2006	MMP-9 Microsatellite Polymorphism and Susceptibility to Carotid Arteries Atherosclerosis		120361		CDC	2006	The number of repeats (> or =22 CA) in the microsatellite of MMP-9 promoter, but not MMP-9 plasma levels, is associated to carotid atherosclerosis and particularly to plaques with a thin fibrous cap.											
151282	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Nakashima, K.  et al. 2006	16631427				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Biochem Biophys Res Commun    2006	A functional polymorphism in MMP-9 is associated with childhood atopic asthma		120361		CDC	2006												
151283	N	uterine leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Takemura, N.  et al. 2006	16638593			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Soc Gynecol Investig    2006    13(3)    232-6	Matrix metalloproteinase-1 and -9 promoter polymorphisms are not associated with an increased risk of uterine leiomyomas in a Japanese population		120361		CDC	2006	These findings suggest that MMP-1 and MMP-9 promoter polymorphisms are unlikely to be associated with an increased risk of uterine leiomyomas in Japanese women.											
151284	Y	ocular Chlamydia trachomatis infection	INFECTION	INF	Trachoma	20	20q11.2-q13.1	MMP9	44070953	44078607		Natividad, A.  et al. 2006	16643654				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Gambia		CDC GDP info	4318	Hs.297413			BMC Med Genet    2006    7(1)    40	A coding polymorphism in Matrix Metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection		120361		CDC	2006	This work supports the hypothesis that MMP-9 has a role in the pathogenesis of blinding trachoma.											
151285		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM		20	20q11.2-q13.1	MMP9	44070953	44078607		Zhang, R. B.  et al. 2005	16676616				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(11)    907-10	Study on matrix metalloproteinase 1, 9, 12 polymorphisms and susceptibility to chronic obstructive pulmonary disease among Han nationality in northern China		120361		CDC	2005	Asn/Asn, CT/AsnAsn might be susceptible genotypes while CC/GG/SerSer might serve as protective genotype.											
151286	Y	throracic aortic aneurysm throracic aortic dissection	CARDIOVASCULAR	CARD	Aneurysm, Dissecting|Aortic Aneurysm, Thoracic|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Chen, L.  et al. 2006	16678588	MMP9   -8202A/G			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Thorac Cardiovasc Surg    2006    131(5)    1045-52	A single nucleotide polymorphism in the matrix metalloproteinase 9 gene (-8202A/G) is associated with thoracic aortic aneurysms and thoracic aortic dissection		120361		CDC	2006	The matrix metalloproteinase 9 -8202A/G polymorphism is associated with$$$ thoracic aortic aneurysms and dissection. Further studies are warranted to elucidate the functional role of the -8202A/G variant in matrix metalloproteinase 9 expression.											
151287	Y	arterial stiffness	CARDIOVASCULAR	CARD		20	20q11.2-q13.1	MMP9	44070953	44078607		Yasmin,  et al. 2006	16709939				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Arterioscler Thromb Vasc Biol    2006	Variation in the Human Matrix Metalloproteinase-9 Gene Is Associated With Arterial Stiffness in Healthy Individuals		120361		CDC	2006	We have demonstrated for the first time that aortic stiffness and elastase activity are influenced by MMP-9 gene polymorphisms. This suggests that the genetic variation in this protein may be involved in the process of large artery stiffening.											
151288		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Goracy, J.  et al. 2003	16736997			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Polish		CDC GDP info	4318	Hs.297413			Pol Arch Med Wewn    2003    110(5)    1275-81	The C(-1562)T polymorphism in the promoter of the matrix metalloproteinase-9 (MMP-9) gene and coronary atherosclerosis		120361		CDC	2003												
151289	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Elander, N.  et al. 2006	16739355			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Anticancer Res    2006    26(1B)    791-5	Matrix metalloproteinase (MMP) -1, -2, -3 and -9 promoter polymorphisms in colorectal cancer		120361		CDC	2006	The MMP-1 promoter polymorphism seems to affect the susceptibility to CRC, while MMP-2, -3 and -9 polymorphisms appear less likely to have any impact on CRC.											
151290	Y	aortic dissection	CARDIOVASCULAR	CARD	Aneurysm, Dissecting|Aortic Aneurysm|Hypertension	20	20q11.2-q13.1	MMP9	44070953	44078607		Song, W. H.  et al. 2006	16780738	MMP-9  -1562C/T			Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Zhonghua Nei Ke Za Zhi    2006    45(5)    376-8	MMP-9 gene -1562C/T polymorphism in aortic dissection in Chinese hypertensive patients.		120361		CDC	2006	The T variant of MMP-9 gene -1562C/T polymorphism was significantly associated with aortic dissection in hypertensive patients and may represent an important genetic component contributing to aortic dissection susceptibility. Furthermore, hypertensive patients with aortic dissection possessing MMP-9 gene -1562T allele are more prone to involvement of ascending aorta.											
151291		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	20	20q11.2-q13.1	MMP9	44070953	44078607		Kubben, F. J.  et al. 2006	16940985				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		120361		CDC	2006												
151292	Y	periodontitis	IMMUNE	IMM	Periodontal Attachment Loss|Periodontitis|Chronic Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Keles, G. C.  et al. 2006	16945027			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Turkish		CDC GDP info	4318	Hs.297413			J Periodontol    2006    77(9)    1510-1514	Association of Matrix Metalloproteinase-9 Promoter Gene Polymorphism With Chronic Periodontitis		120361		CDC	2006	MMP-9 promoter gene polymorphism seems to be associated with severe generalized chronic periodontitis.											
151293	Y	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage	20	20q11.2-q13.1	MMP9	44070953	44078607		Pannu, H.  et al. 2006	16961137				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Caucasian		CDC GDP info	4318	Hs.297413			J Neurosurg    2006    105(3)    418-23	The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms		120361		CDC	2006	The study findings support a role for MMP-9, but not MMP-2, in the pathogenesis of intracranial aneurysms.											
151294	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Sugimoto, M.  et al. 2006	16990034			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Soc Gynecol Investig    2006	Matrix Metalloproteinase-1 and -9 Promoter Polymorphisms and Endometrial Carcinoma Risk in a Japanese Population		120361		CDC	2006	These results suggest that the MMP-9 -1562 C/T polymorphism may be associated with susceptibility to endometrioid carcinoma in the Japanese population.											
151297	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Holla, L. I.  et al. 2006	17076610				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Periodontol    2006    77(11)    1850-1855	Functional Polymorphisms in the Matrix Metalloproteinase-9 Gene in Relation to Severity of Chronic Periodontitis		120361		CDC	2006												
151298	Y	Alzheimer's disease dementia, vascular	NEUROLOGICAL	NEUR	Dementia, Vascular|Alzheimer Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Flex, A.  et al. 2006	17077200				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Gerontol A Biol Sci Med Sci    2006    61(10)    1065-9	Analysis of functional polymorphisms of metalloproteinase genes in persons with vascular dementia and Alzheimer's disease		120361		CDC	2006	Our study suggests that MMP gene polymorphisms are associated with VAD and AD, although these results need to be treated with caution until replicated.											
151299	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Angle-Closure|Acute Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Wang, I. J.  et al. 2006	17110919				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Mol Vis    2006    12    1223-1232	The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients		120361		CDC	2006	Our results reveal that SNP rs2664538, which is located at the MMP9 gene, is likely to be associated with acute PACG.											
151300		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	20	20q11.2-q13.1	MMP9	44070953	44078607		Coolman, M.  et al. 2006	17137622				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Placenta    2006	Matrix Metalloproteinase-9 Gene -1562C/T Polymorphism Mitigates Preeclampsia		120361		CDC	2006												
151301	Y	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Sfar, S.  et al. 2007	17175378				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Tunisian		CDC GDP info	4318	Hs.297413			Cancer Genet Cytogenet    2007    172(1)    38-44	TSP1 and MMP9 genetic variants in sporadic prostate cancer		120361		CDC	2007												
151302		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Caucasian	United States	CDC GDP info	4318	Hs.297413			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		120361		CDC	2006			smoking (tobacco)									
151303		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	20	20q11.2-q13.1	MMP9	44070953	44078607		Powell, J. T.  et al. 2006	17182940				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		120361		CDC	2006												
151304		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Rollin, J.  et al. 2007	17208328			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Lung Cancer    2007	Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer		120361		CDC	2007												
151305		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Armani, C.  et al. 2006	17223007				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Biomed Pharmacother    2006	Polymorphic analysis of the matrix metalloproteinase-9 gene and susceptibility to sporadic abdominal aortic aneurysm		120361		CDC	2006												
151307		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Oguri, M.  et al. 2007	17275003				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Atherosclerosis    2007	Genetic risk for restenosis after coronary stenting		120361		CDC	2007	Determination of the genotypes for BCHE, GPX1, and ROS1 may prove informative for assessment of the genetic risk for in-stent restenosis.											
151308		acute coronary syndrome atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Nanni, S.  et al. 2007	17320799				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Transl Res    2007    149(3)    137-44	Matrix metalloproteinases in premature coronary atherosclerosis		120361		CDC	2007	MMP and TIMP plasma levels in premature CAD are linked to clinical presentation and markers of inflammation and metabolic disorders rather than to genetic polymorphisms.											
151309	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Cotignola, J.  et al. 2007	17346338				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			BMC Med Genet    2007    8(1)    10	Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma		120361		CDC	2007	This study does not provide strong evidence for further investigation into the role of the MMP-9 SNPs in melanoma progression.											
151310		intrauterine growth	REPRODUCTION	REP	Fetal Growth Retardation|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Gremlich, S.  et al. 2007	17367869				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Reprod Immunol    2007	Fetal MMP2/MMP9 polymorphisms and intrauterine growth restriction risk		120361		CDC	2007												
151312		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Chen, D.  et al. 2007	17448043				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Clin Periodontol    2007    34(5)    384-9	MMP-2, MMP-9 and TIMP-2 gene polymorphisms in Chinese patients with generalized aggressive periodontitis		120361		CDC	2007	It is suggested that the TIMP2 -418G to C gene polymorphism is associated with G-AgP in the Chinese subjects.											
151313	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	20	20q11.2-q13.1	MMP9	44070953	44078607		Kader, A. K.  et al. 2007	17473191				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Caucasian		CDC GDP info	4318	Hs.297413			Clin Cancer Res    2007    13(9)    2614-20	Matrix metalloproteinase polymorphisms are associated with bladder cancer invasiveness		120361		CDC	2007	Our results suggest that genetic changes in MMPs are associated with the development of invasive bladder cancer.		smoking (tobacco)									
151314	Y	oral cancer	CANCER	CAN		20	20q11.2-q13.1	MMP9	44070953	44078607		Vairaktaris, E.  et al. 2007	17498910				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Eur J Surg Oncol    2007	A metalloproteinase-9 polymorphism which affects its expression is associated with increased risk for oral squamous cell carcinoma		120361		CDC	2007	The investigated MMP-9 polymorphism has a strong association with increased risk for developing oral cancer in a subset of the general population. These results are in accordance to previous studies of constitutive expression and secretion of MMP-9 in invasive oral carcinoma cell lines. The observation that T allele carriers have an increased risk for developing oral cancer only in initial stages, but not in advanced ones, may be due to the role of MMP-9 in the inhibition of angiogenesis by generating angiostatin from plasminogen.		family history smoking (tobacco)									
151316	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Xu, E.  et al. 2007	17546628			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Mol Carcinog    2007	Association of matrix metalloproteinase-2 and -9 promoter polymorphisms with colorectal cancer in Chinese		120361		CDC	2007												
151317		aortic stiffness hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q11.2-q13.1	MMP9	44070953	44078607		Zhou, S.  et al. 2007	17581602				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Hum Hypertens    2007	Matrix metalloproteinase-9 polymorphism contributes to blood pressure and arterial stiffness in essential hypertension		120361		CDC	2007												
151318	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Meijer, M. J.  et al. 2007	17589947				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		120361		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
151319	N	nasopharyngeal cancer	CANCER	CAN	Carcinoma|Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Nasr, H. B.  et al. 2007	17599818			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Clin Chim Acta    2007	Matrix metalloproteinase-1 (-1607) 1G/2G and -9 (-1562) C/T promoter polymorphisms		120361		CDC	2007	The genetic variation in MMP-1 may represent a marker for the increased risk of nasopharyngeal carcinoma.											
151320	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		120361		CDC	2007			smoking (tobacco)									
151322		leukemia, myeloid myelodysplastic syndrome myeloid metaplasia myelomonocytic leukemia polycythemia vera thrombocythemia	CANCER	CAN	Bone Marrow Diseases|Myeloproliferative Disorders	1	1p34	MPL	43576061	43592722		Pardanani, A. D.  et al. 2006	16868251				Myeloproliferative leukemia virus oncogene	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005373.1			CDC GDP info	4352	Hs.82906			Blood    2006	MPL515 mutations in myeloproliferative and other myeloid disorders		159530		CDC	2006												
151323			NORMALVARIATION	NV		17	17q23.1	MPO	53702215	53713295		Hamajima, N.  et al. 2002	12164325				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		606989		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
151324	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	17	17q23.1	MPO	53702215	53713295		Usui, C.  et al. 2006	16484808				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Dement Geriatr Cogn Disord    2006    21(5-6)    296-299	No Genetic Association between the Myeloperoxidase Gene -463 Polymorphism and Estrogen Receptor-alpha Gene Polymorphisms and Japanese Sporadic Alzheimer's Disease		606989		CDC	2006												
151325		cognitive function	PSYCH	PSY	Multiple Sclerosis|Cognition Disorders	17	17q23.1	MPO	53702215	53713295		Manna, I.  et al. 2006	16504169				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			J Negat Results Biomed    2006    5(1)    3	genetic variation in the myeloperoxidase gene and cognitive impairment in multiple sclerosis		606989		CDC	2006												
151327	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	17	17q23.1	MPO	53702215	53713295		Zhu, H.  et al. 2006	16829688				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Carcinogenesis    2006	Myeloperoxidase G-463A polymorphism and the risk of gastric cancer		606989		CDC	2006	our results showed that the MPO -463 G to A variant may be associated with the decreased risk of gastric cancer in Chinese population.		smoking (tobacco)									
151329		LDL oxidation	PHARMACOGENOMIC	PHARM	Atherosclerosis	17	17q23.1	MPO	53702215	53713295		Makela, R.  et al. 2006	16901848			promoter	Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Scand J Clin Lab Invest    2006    66(5)    371-84	Relation of myeloperoxidase promoter polymorphism and long-term hormone replacement therapy to oxidized low-density lipoprotein autoantibodies in postmenopausal women		606989		CDC	2006	The effects of HRT on LDL oxidation can vary according to MPO genotype and the concurrent progestin therapy with EV may counteract the more neutral effect of EV on LDL oxidation in subjects with the MPO high-expression genotype.		hormone replacement therapy									
151330		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	17	17q23.1	MPO	53702215	53713295		Wan, J. X.  et al. 2006	17119198				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Ann N Y Acad Sci    2006    1076    129-36	Genetic polymorphism of toxicant-metabolizing enzymes and prognosis of chinese workers with chronic benzene poisoning		606989		CDC	2006												
151331		radiotoxicity	OTHER	OTH	Breast Neoplasms	17	17q23.1	MPO	53702215	53713295		Ahn, J.  et al. 2006	17145829				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Caucasian		CDC GDP info	4353	Hs.458272			Clin Cancer Res    2006    12(23)    7063-70	Polymorphisms in Genes Related to Oxidative Stress (CAT, MnSOD, MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer		606989		CDC	2006	Associations between BMI and radiotoxicity risk may be most apparent among women with genotypes related to higher levels of oxidative stress.		body mass									
151332		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Lan, Q.  et al. 2006	17149600				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		606989		CDC	2006												
151333		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Chen, Y.  et al. 2007	17178637				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Xenobiotica    2007    37(1)    103-12	Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations		606989		CDC	2007												
151335		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Taioli, E.  et al. 2007	17304047				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Genet Med    2007    9(2)    67-73	Myeloperoxidase G-463A polymorphism and lung cancer		606989		CDC	2007			smoking (tobacco)									
151336	Y	cardiac death cardiovascular disease oxidative stress	CARDIOVASCULAR	CARD		17	17q23.1	MPO	53702215	53713295		Grahl, D. A.  et al. 2007	17337886				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Blood Purif    2007    25(2)    210-218	Associations between the CYBA 242C/T and the MPO -463G/A Polymorphisms, Oxidative Stress and Cardiovascular Disease in Chronic Kidney Disease Patients		606989		CDC	2007												
151338	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		17	17q23.1	MPO	53702215	53713295		Sun, P.  et al. 2007	17424838				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Wei Sheng Yan Jiu    2007    36(1)    11-5	Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning		606989		CDC	2007	The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.		smoking (tobacco)									
151339		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Yang, M.  et al. 2007	17428572				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Korean		CDC GDP info	4353	Hs.458272			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		606989		CDC	2007												
151340	Y	gastric disease	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Peptic Ulcer	17	17q23.1	MPO	53702215	53713295		Yilmaz, O.  et al. 2007	17451207				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			World J Gastroenterol    2007    13(8)    1243-6	Effects of the myeloperoxidase 463 gene polymorphisms on development of atrophy in H pylori infected or noninfected gastroduodenal disease		606989		CDC	2007	Myeloperoxidase genotype is critical for development of atrophy in relation to the severity of inflammation.		Helicobacter pylori									
151341		leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Zhang, J.  et al. 2007	17479404				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1		China	CDC GDP info	4353	Hs.458272			J Toxicol Environ Health A    2007    70(11)    901-7	Analysis of multiple single nucleotide polymorphisms (SNPs) of myeloperoxidase (MPO) to screen for genetic markers associated with acute leukemia in Chinese Han population		606989		CDC	2007												
151342	N	osteosarcoma	CANCER	CAN	Osteosarcoma|Recurrence	17	17q23.1	MPO	53702215	53713295		Oliveira, I. D.  et al. 2007	17483704				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			J Pediatr Hematol Oncol    2007    29(5)    293-297	TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma		606989		CDC	2007												
151343		anti-neutrophil cytoplasmic antibodies kidney failure, chronic polyangiitis Wegener's granulomatosis	IMMUNE	IMM	Vasculitis|Autoimmune Diseases|Disease Progression|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Rajp, A.  et al. 2007	17521322				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Caucasian		CDC GDP info	4353	Hs.458272			Clin Exp Immunol    2007	Meta-analysis of myeloperoxidase G-463/A polymorphism in anti-neutrophil cytoplasmic autoantibody-positive vasculitis		606989		CDC	2007												
151344	Y	gastric atrophy gastric disease	OTHER	OTH	Helicobacter Infections|Intestinal Neoplasms|Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic|Metaplasia	17	17q23.1	MPO	53702215	53713295		Steenport, M.  et al. 2007	17549373				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Oncol Rep    2007    18(1)    235-40	Association of polymorphisms in myeloperoxidase and catalase genes with precancerous changes in the gastric mucosa of patients at inner-city hospitals in New York		606989		CDC	2007												
151346		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	17	17q23.1	MPO	53702215	53713295		Lundmark, F.  et al. 2007	17613595				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Mult Scler    2007    13(6)    697-700	An association study of two functional promotor polymorphisms in the myeloperoxidase (MPO) gene in multiple sclerosis		606989		CDC	2007												
151347	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q24.2	MPZL1	165957831	166026684		He, G.  et al. 2006	16702974				Myelin protein zero-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003953			CDC GDP info	9019	Hs.493919			Mol Psychiatry    2006	MPZL1/PZR, a novel candidate predisposing schizophrenia in Han Chinese				CDC	2006												
151348		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	11	11q21	MRE11A	93790114	93866688		Rollinson, S.  et al. 2006	17169801				MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005590			CDC GDP info	4361	Hs.192649			Leuk Lymphoma    2006    47(12)    2567-83	Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma		600814		CDC	2006												
151349	Y	dyslexia	NEUROLOGICAL	NEUR	Dyslexia	2	2q11.1-q11.2	MRPL19	75727416	75751387		Anthoni, H.  et al. 2007	17309879				Mitochondrial ribosomal protein L19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014763	Finnish;German		CDC GDP info	9801	Hs.44024			Hum Mol Genet    2007	A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia				CDC	2007	our data support MRPL19 and C2ORF3 as candidate susceptibility genes for DYX3.											
151350		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid			MS				Dervieux, T.  et al. 2006	17009228				multiple sclerosis				CDC GDP info	4397				Arthritis Rheum    2006    54(10)    3095-3103	Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis		126200		CDC	2006	RBC MTXPG levels are a useful means by which to monitor therapy.											
151351		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease			MS				Pepe, C.  et al. 2006	17151928				multiple sclerosis				CDC GDP info	4397				Breast Cancer Res Treat    2006	Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers		126200		CDC	2006												
151353		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Hizawa, N.  et al. 2006	16839401				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			Clin Exp Allergy    2006    36(7)    872-6	Genetic polymorphisms at FCER1B and PAI-1 and asthma susceptibility		147138		CDC	2006	The present findings suggest a synergistic interaction between FCER1B and PAI-1 genes in asthma susceptibility.											
151354	Y	asthma, aspirin-induced	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Kim, S. H.  et al. 2006	16839402				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Korean		CDC GDP info	2206	Hs.386748			Clin Exp Allergy    2006    36(7)    877-83	A polymorphism of MS4A2 (-109T>C) encoding the beta-chain of the high-affinity immunoglobulin E receptor (FcepsilonR1beta) is associated with a susceptibility to aspirin-intolerant asthma		147138		CDC	2006	FcepsilonR1beta-109T > C polymorphism may increase expression of MS4A2 by mast cells, leading to enhanced release of proinflammatory mediators in the asthmatic airway, contributing to increased susceptibility to AIA.											
151356	N	IgE, cord blood	IMMUNE	IMM		11	11q13	MS4A2	59612712	59622592		Wen, H. J.  et al. 2006	17014622				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			Pediatr Allergy Immunol    2006    17(7)    489-94	Association between cord blood IgE and genetic polymorphisms of interleukin-4, the beta-subunit of the high-affinity receptor for IgE, lymphotoxin-alpha, and tumor Necrosis factor-alpha		147138		CDC	2006												
151357		eczema food allergy IgE	IMMUNE	IMM	Liver Diseases|Dermatitis, Atopic|Food Hypersensitivity	11	11q13	MS4A2	59612712	59622592		Negoro, T.  et al. 2006	17121586				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			Pediatr Allergy Immunol    2006    17(8)    583-90	Influence of SNPs in cytokine-related genes on the severity of food allergy and atopic eczema in children		147138		CDC	2006												
151358		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Li, M.  et al. 2006	17178032				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			Zhongguo Dang Dai Er Ke Za Zhi    2006    8(6)    453-456	Gene mutation of high affinity immunoglobulin E receptor beta-chain in children with asthma.		147138		CDC	2006	The polymorphism of Fc epsilonR1betaI181L and E237G is a susceptible gene of childhood asthma and closely associates with the increased serum total IgE level.											
151359		airway hyperresponsiveness atopy	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Kim, Y. K.  et al. 2007	17430357				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2	Korean		CDC GDP info	2206	Hs.386748			Clin Exp Allergy    2007    37(4)    592-8	Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness		147138		CDC	2007	In the Korean general population, AHR is significantly associated with the E237G polymorphism of FcepsilonRI-beta, which results in an intolerant amino acid substitution.											
151360		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Microsatellite Instability	2	2p22-p21	MSH2	47483766	47760014		Niessen, R. C.  et al. 2006	16636019				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Gut    2006    55(12)    1781-8	Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer		120435		CDC	2006	Family history, MSI analysis and IHC are indicative parameters to select patients with CRC for MMR gene mutation analysis.											
151361		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Rodriguez-Moranta, F.  et al. 2006	16696788				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Spain	CDC GDP info	4436	Hs.156519			Am J Gastroenterol    2006    101(5)    1104-11	Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer		120435		CDC	2006	Original and revised Bethesda guidelines are equivalent, highly effective criteria for the identification of MSH2/MLH1 gene mutation carriers in patients with newly diagnosed colorectal cancer. A new set of recommendations, based on a combination of some of their individual criteria, may provide additional advantages in terms of effectiveness.											
151362		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Duodenal Neoplasms|Ileal Neoplasms|Jejunal Neoplasms|Neoplasms, Second Primary	2	2p22-p21	MSH2	47483766	47760014		Park, J. G.  et al. 2006	16740762				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Clin Cancer Res    2006    12(11)    3389-93	Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer		120435		CDC	2006	In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens.											
151364		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Barnetson, R. A.  et al. 2006	16807412				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			N Engl J Med    2006    354(26)    2751-63	Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer		120435		CDC	2006	We devised and validated a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes.											
151365		endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Hampel, H.  et al. 2006	16885385				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Cancer Res    2006    66(15)    7810-7	Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients		120435		CDC	2006	in central Ohio, at least 1.											
151366		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Zhang, Y.  et al. 2006	16929514				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Int J Cancer    2006	Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China		120435		CDC	2006												
151367	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Beiner, M. E.  et al. 2006	16985024				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1636-40	Endometrial Cancer Risk Is Associated with Variants of the Mismatch Repair Genes MLH1 and MSH2		120435		CDC	2006	two common variant alleles of the MLH1 and MSH2 genes make a substantial contribution to endometrial cancer incidence in Ontario.											
151369		Lynch syndrome	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Kruger, S.  et al. 2007	17224235				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Cancer Lett    2007	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1		120435		CDC	2007												
151370		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Microsatellite Instability	2	2p22-p21	MSH2	47483766	47760014		Lagerstedt Robinson, K.  et al. 2007	17312306				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			J Natl Cancer Inst    2007    99(4)    291-9	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics		120435		CDC	2007	Our findings suggest that missense MMR gene mutations are common in HNPCC and that germline MMR mutations are also found in patients with MSI-negative tumors.											
151372		colorectal cancer	CANCER	CAN	Colonic Neoplasms	2	2p22-p21	MSH2	47483766	47760014		Schafmayer, C.  et al. 2007	17417778				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1	German		CDC GDP info	4436	Hs.156519			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		120435		CDC	2007												
151373	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	5	5q11-q12	MSH3	79986049	80208390		Song, H.  et al. 2006	16774946				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2			CDC GDP info	4437	Hs.280987			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		600887		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
151374		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	5	5q11-q12	MSH3	79986049	80208390		Berndt, S. I.  et al. 2007	17205513				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2			CDC GDP info	4437	Hs.280987			Int J Cancer    2007    120(7)    1548-54	Mismatch repair polymorphisms and the risk of colorectal cancer		600887		CDC	2007												
151375	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	5	5q11-q12	MSH3	79986049	80208390		Michiels, S.  et al. 2007	17494052				MutS homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002439.2	Caucasian		CDC GDP info	4437	Hs.280987			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		600887		CDC	2007												
151376		colorectal cancer endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|Microsatellite Instability	2	2p16	MSH6	47863789	47887596		Niessen, R. C.  et al. 2006	16408224				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1	Caucasian		CDC GDP info	2956	Hs.445052			Hum Genet    2006    119(1-2)    206-11	MUTYH and the mismatch repair system		600678		CDC	2006												
151378	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p16	MSH6	47863789	47887596		Damaraju, S.  et al. 2006	16638864				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		600678		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
151380	N	colon polyps colorectal cancer	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Yu, J. H.  et al. 2006	16771955				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Am J Gastroenterol    2006    101(6)    1313-9	Mismatch Repair Polymorphisms and Colorectal Polyps		600678		CDC	2006	no evidence of an association between any of the three polymorphisms or hMLH1 haplotypes and colorectal polyps was observed.		smoking (tobacco)									
151381	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Song, H.  et al. 2006	16774946				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		600678		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
151382		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p16	MSH6	47863789	47887596		Barnetson, R. A.  et al. 2006	16807412				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			N Engl J Med    2006    354(26)    2751-63	Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer		600678		CDC	2006	We devised and validated a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes.											
151383		endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms	2	2p16	MSH6	47863789	47887596		Hampel, H.  et al. 2006	16885385				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Cancer Res    2006    66(15)    7810-7	Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients		600678		CDC	2006	in central Ohio, at least 1.											
151385		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	2	2p16	MSH6	47863789	47887596		Landi, S.  et al. 2006	17108146				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Cancer Res    2006    66(22)    11062-11069	DNA Repair and Cell Cycle Control Genes and the Risk of Young-Onset Lung Cancer		600678		CDC	2006												
151386		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	2	2p16	MSH6	47863789	47887596		Berndt, S. I.  et al. 2007	17205513				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Int J Cancer    2007    120(7)    1548-54	Mismatch repair polymorphisms and the risk of colorectal cancer		600678		CDC	2007												
151387		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Microsatellite Instability	2	2p16	MSH6	47863789	47887596		Lagerstedt Robinson, K.  et al. 2007	17312306				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			J Natl Cancer Inst    2007    99(4)    291-9	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics		600678		CDC	2007	Our findings suggest that missense MMR gene mutations are common in HNPCC and that germline MMR mutations are also found in patients with MSI-negative tumors.											
151389		colorectal cancer	CANCER	CAN	Colonic Neoplasms	2	2p16	MSH6	47863789	47887596		Schafmayer, C.  et al. 2007	17417778				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1	German		CDC GDP info	2956	Hs.445052			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		600678		CDC	2007												
151390		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	2	2p16	MSH6	47863789	47887596		Sanyal, S.  et al. 2007	17438703				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Acta Oncol    2007    46(1)    31-41	Polymorphisms in XPD, XPC and the risk of death in patients with urinary bladder neoplasms		600678		CDC	2007												
151391	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671			16425212				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2			CDC GDP info	4481	Hs.632045			Prostate    2006	Meta-analysis of association of rare mutations and common sequence variants in the MSR1 gene and prostate cancer risk		153622		CDC	2006	Overall, this meta-analysis suggests the MSR1 gene does not independently confer a major risk to PCa but may confer a moderate risk to PCa, especially in black men.											
151392	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8p22	MSR1	16009757	16094671		Bar-Shira, A.  et al. 2006	16598737				Macrophage scavenger receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138715.2	Ashkenazi;Jewish		CDC GDP info	4481	Hs.632045			Prostate    2006	Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6		153622		CDC	2006	We found no evidence that MSR1 and PTEN germline mutations are associated with prostate cancer risk in Jews.											
151394		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	4	4p16.3-p16.1	MSX1	4912292	4916561		Park, J.  et al. 2007	17326252				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2	European;Korean;Asian		CDC GDP info	4487	Hs.424414			Yonsei Med J    2007    48(1)    101-8	MSX1 polymorphism associated with risk of oral cleft in Korea		142983		CDC	2007												
151395		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		4	4p16.3-p16.1	MSX1	4912292	4916561		Wu, P.  et al. 2007	17557248				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2			CDC GDP info	4487	Hs.424414			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    325-7	Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate.		142983		CDC	2007	The microsatellite DNA marker CA repeat in MSX1 is a good genetic marker.											
151396	Y	atherosclerosis diabetes, type 2 inflammation zinc	CARDIOVASCULAR	CARD	Atherosclerosis|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Inflammation	16	16q13	MT2A	55200011	55200894		Giacconi, R.  et al. 2005	16518702				Metallothionein 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF131637		Italy	CDC GDP info	4502	Hs.647371			Biogerontology    2005    6(6)    407-13	Novel -209A/G MT2A Polymorphism in Old Patients with Type 2 Diabetes and Atherosclerosis		156360		CDC	2005	high levels of IL-6 unmask the phenotypes (higher insulin resistance and zinc deficiency) in relation to the genotypes with subsequent risk of developing ischaemic cardiomyopathy in NIDDM-atherosclerotic patients carrying AA genotype. Hence, the novel -209A/G MT2A polymorphism may be a further useful tool for the prevention, diagnosis and therapy of these combined pathologies in the elderly.		atherosclerosis diabetes									
151397	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	16	16q13	MT2A	55200011	55200894		Hayashi, Y.  et al. 2006	16546755				Metallothionein 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF131637		Japan	CDC GDP info	4502	Hs.647371			Amyotroph Lateral Scler Other Motor Neuron Disord    2006    7(1)    22-6	Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population		156360		CDC	2006												
151398	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	16	16q13	MT3	55180767	55182501		Hayashi, Y.  et al. 2006	16546755				Metallothionein 3 (growth inhibitory factor (neurotrophic))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005954.2		Japan	CDC GDP info	4504	Hs.73133			Amyotroph Lateral Scler Other Motor Neuron Disord    2006    7(1)    22-6	Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population		139255		CDC	2006												
151400		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	2	2p21	MTA3	42575212	42837590		Yu, J. C.  et al. 2006	16502042				Metastasis associated 1 family, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK127245			CDC GDP info	57504	Hs.435413			J Biomed Sci    2006	Breast cancer risk associated with genotypic polymorphism of the genes involved in the estrogen-receptor-signaling pathway				CDC	2006			age at first pregnancy body mass									
151401		glaucoma, primary open-angle	VISION	VIS	Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle			MT-ATP6				Inagaki, Y.  et al. 2006	16604388				mitochondrially encoded ATP synthase 6			Japan	CDC GDP info	4508				Jpn J Ophthalmol    2006    50(2)    128-34	Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma		516060		CDC	2006	Rare LHON-associated mitochondrial DNA mutations were found in Japanese patients with open-angle glaucoma (OAG). However, whether mitochondrial DNA mutations are risk factors for OAG is still open to question.											
151402	N	ataxia (SCA)	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Spinocerebellar Degenerations|Genetic Predisposition to Disease			MT-ATP6				Lee, Y. C.  et al. 2007	17300808				mitochondrially encoded ATP synthase 6			Taiwan	CDC GDP info	4508				J Neurol Sci    2007	Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan		516060		CDC	2007	The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. Routine screening for these mutations in ataxia patients with Chinese origin is of limited clinical value.											
151403		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis			MT-ATP6				Ahari, S. E.  et al. 2007	17619138				mitochondrially encoded ATP synthase 6		Iranian		CDC GDP info	4508				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients		516060		CDC	2007												
151404		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis			MT-ATP8				Ahari, S. E.  et al. 2007	17619138				ATP synthase F0 subunit 8		Iranian		CDC GDP info	4509				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients		516070		CDC	2007												
151405		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss			MT-CO1				Samanich, J.  et al. 2007	17357124				mitochondrially encoded cytochrome c oxidase I		African American;Hispanic Caucasian	Caribbean Region	CDC GDP info	4512				Am J Med Genet A    2007	Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment		516030		CDC	2007												
151406		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis			MT-CO2				Ahari, S. E.  et al. 2007	17619138				mitochondrially encoded cytochrome c oxidase II		Iranian		CDC GDP info	4513				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients		516040		CDC	2007												
151407		glaucoma, primary open-angle	VISION	VIS	Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle			MT-CO3				Inagaki, Y.  et al. 2006	16604388				mitochondrially encoded cytochrome c oxidase III			Japan	CDC GDP info	4514				Jpn J Ophthalmol    2006    50(2)    128-34	Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma				CDC	2006	Rare LHON-associated mitochondrial DNA mutations were found in Japanese patients with open-angle glaucoma (OAG). However, whether mitochondrial DNA mutations are risk factors for OAG is still open to question.											
151408	N	obesity	METABOLIC	MET	Obesity			MT-CYB				Liguori, R.  et al. 2006	17015183				mitochondrially encoded cytochrome b		Japanese;Caucasian		CDC GDP info	4519				Nutr Metab Cardiovasc Dis    2006    16(7)    466-70	The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy		516020		CDC	2006	The mtDNA 15497 G/A polymorphism in cytochrome b was present in 0.6% obese subjects, two females whose lipid parameters and BMI were similar to those of the overall group. Therefore, this mutation may appear to contribute in rare instances to severe obesity but does not explain the majority of cases in our population. A more extensive genetic haplogroup characterization is required to identify associations to obesity in Caucasians.											
151410	P	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	14	14q24	MTHFD1	63924845	63996474		Li, Y.  et al. 2005	15719048				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Beijing Da Xue Xue Bao    2005    37(1)    75-80	Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease		172460		CDC	2005	The study showed presence of ethnic and district difference of gene polymorphisms at these four loci.											
151411		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474			16328059				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		172460		CDC	2006												
151412		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	14	14q24	MTHFD1	63924845	63996474		Parle-McDermott, A.  et al. 2006	16552426				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2	Irish		CDC GDP info	4522	Hs.632340			Eur J Hum Genet    2006	Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population		172460		CDC	2006												
151413		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474		Mostowska, A.  et al. 2006	16712703				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Clin Genet    2006    69(6)    512-7	Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population		172460		CDC	2006												
151414	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	14	14q24	MTHFD1	63924845	63996474		Boyles, A. L.  et al. 2006	17035141				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2	Caucasian		CDC GDP info	4522	Hs.632340			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		172460		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
151415	Y	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	14	14q24	MTHFD1	63924845	63996474		Kempisty, B.  et al. 2007	17417062				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Psychiatr Genet    2007    17(3)    177-81	MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia		172460		CDC	2007	Since MTHFD and MTR genes are located in 14q24 and 1q43 loci, our findings support the significance of chromosomes 14q and 1q in etiopathogenesis of bipolar disorder and schizophrenia.											
151416		stomach cancer	CANCER	CAN	Stomach Neoplasms	14	14q24	MTHFD1	63924845	63996474		Wang, L.  et al. 2007	17438114				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Clin Cancer Res    2007    13(8)    2526-32	Polymorphisms of MTHFD, Plasma Homocysteine Levels, and Risk of Gastric Cancer in a High-Risk Chinese Population		172460		CDC	2007	The strong associations between MTHFD variants and the plasma tHcy levels and gastric cancer risk suggest, for the first time, a possible gene-environment interaction between genetic variants of folate-metabolizing genes and high tHcy levels in gastric carcinogenesis.		homocysteine									
151417		colorectal cancer	CANCER	CAN	Colonic Neoplasms	14	14q24	MTHFD1	63924845	63996474		Curtin, K.  et al. 2007	17449906				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		172460		CDC	2007			alcohol folate methionine Vitamin B12									
151419		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q24	MTHFD1	63924845	63996474		Matakidou, A.  et al. 2007	17533396				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2	Caucasian		CDC GDP info	4522	Hs.632340			Br J Cancer    2007	Prognostic significance of folate metabolism polymorphisms for lung cancer		172460		CDC	2007												
151420	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q24	MTHFD1	63924845	63996474		Stevens, V. L.  et al. 2007	17548676				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1140-7	Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence		172460		CDC	2007			diet									
151421	N		NORMALVARIATION	NV		1	1p36.3	MTHFR	11768373	11788702		Hamajima, N.  et al. 2002	12164325				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		607093		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
151422	P		NORMALVARIATION	NV		1	1p36.3	MTHFR	11768373	11788702		Hamajima, N.  et al. 2002	12718576				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese;Chinese;Caucasian;Korean		CDC GDP info	4524	Hs.214142			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		607093		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
151423	P		CANCER	CAN	Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Yoshimura, K.  et al. 2003	14634838				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		607093		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
151425		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			16328059				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		607093		CDC	2006												
151426	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Takehara, A.  et al. 2005	16334126				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Anticancer Res    2005    25(6C)    4455-61	Prognostic significance of the polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase gene in lung cancer		607093		CDC	2005	The TS and MTHFR genotypes can be prognostic factors in NSCLC, where gene-gene interactions between the genotypes may occur. Further validation and investigation of the involvement of genotypes of folate metabolizing enzymes in the prognosis of NSCLC patients are required.											
151427		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p36.3	MTHFR	11768373	11788702			16407418				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		607093		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
151428	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1p36.3	MTHFR	11768373	11788702			16420563				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		United States	CDC GDP info	4524	Hs.214142			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		607093		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
151429		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension|Disease Susceptibility	1	1p36.3	MTHFR	11768373	11788702		Gao, X.  et al. 2006	16443328				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Neurosci Lett    2006	Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke		607093		CDC	2006			alcohol smoking (tobacco)									
151431	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Zhang, X. M.  et al. 2005	16447641				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2005    27(6)    700-3	Association between genetic polymorphisms in methylentetrahydrofolate reductase and risk of lung cancer		607093		CDC	2005	Functional polymorphism in MTHFR is associated with increased risk of lung cancer in Chinese population.											
151433	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1p36.3	MTHFR	11768373	11788702		Taymaz, H.  et al. 2006	16472842				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Turkish		CDC GDP info	4524	Hs.214142			Thromb Res    2006	Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population		607093		CDC	2006	Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population.											
151434	Y	abdominal aortic aneurysm homocysteine hypertension	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	1	1p36.3	MTHFR	11768373	11788702			16521945				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Przegl Lek    2005    62(10)    1023-30	The different genotypes of MTHFR 1298A>C and PON1 -108C>T polymorphisms confer the increased risk of the abdominal aortic aneurysm in the smoking and nonsmoking persons		607093		CDC	2005			smoking (tobacco)									
151435	Y	folate homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702			16522921	MTHFR 677TT			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Am J Clin Nutr    2006    83(3)    708-13	Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population		607093		CDC	2006	Folate and tHcy concentrations were not affected individually by the MTHFR 1298A-->C, RFC1 80G-->A, or GCPII 1561C-->T polymorphisms or by combinations of the MTHFR 677C-->T and MTHFR 1298A-->C genotypes. An interaction between the MTHFR 677TT and RFC1 80GG genotypes was observed whereby persons with this combination had higher serum tHcy.			MTHFR	MTHFR 677TT	RFC1	RFC1 80GG					
151436	Y	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Zhu, Z. Z.  et al. 2006	16556414	MTHFR C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhonghua Gan Zang Bing Za Zhi    2006    14(3)    196-8	A study on the association of MTHFR C677T polymorphism with genetic susceptibility to hepatocellular carcinoma.		607093		CDC	2006	The MTHFR C677T polymorphism may be associated with a higher HCC risk in females, but not in males in this population.											
151437		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	1	1p36.3	MTHFR	11768373	11788702		Komitopoulou, A.  et al. 2006	16567932				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		607093		CDC	2006	Except for FVL, no definite											
151439		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	1	1p36.3	MTHFR	11768373	11788702		Coppede, F.  et al. 2006	16596679				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Italian		CDC GDP info	4524	Hs.214142			Am J Med Genet A    2006	Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women		607093		CDC	2006												
151440		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Ruzzo, A.  et al. 2006	16622263				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		607093		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
151441		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Coulam, C. B.  et al. 2006	16635210				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		607093		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
151443		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Mostowska, A.  et al. 2006	16712703				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Genet    2006    69(6)    512-7	Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population		607093		CDC	2006												
151444		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Hiltunen, L.  et al. 2007	16765424				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		607093		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
151445	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD		1	1p36.3	MTHFR	11768373	11788702		Qiu, X. Q.  et al. 2006	16792904				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(3)    260-3	A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine beta-synthase gene, and environmental factors.		607093		CDC	2006	These results suggested that maternal MTHFR 677TT genotype was one of the risks to the occurrence of CHD in offspring but parents\ CBS gene 833 T-->C mutation did not get involved in CHD. In addition, the occurrence of CHD was related to maternal exposures to pesticides, catching a cold, suffering from diseases, depressed or under nervous condition in the ea											
151446	Y	folate homocysteine vitamin B12	METABOLIC	MET	Hyperhomocysteinemia	1	1p36.3	MTHFR	11768373	11788702		Alessio, A. C.  et al. 2006	16820193				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Brazilian		CDC GDP info	4524	Hs.214142			Thromb Res    2006	Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B(12) concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children		607093		CDC	2006												
151447		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Agirbasli, D.  et al. 2006	16845248				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Coron Artery Dis    2006    17(5)    413-7	Interaction among 5,10 methylenetetrahydrofolate reductase, plasminogen activator inhibitor and endothelial nitric oxide synthase gene polymorphisms predicts the severity of coronary artery disease in Turkish patients		607093		CDC	2006	These three genetic polymorphisms are susceptibility loci and genotypes of these genes are neither necessary nor sufficient for the coronary artery disease to occur, but coexistence of high-risk alleles may increase the severity of coronary artery disease.											
151448		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome|Chromosome Aberrations	1	1p36.3	MTHFR	11768373	11788702		Scala, I.  et al. 2006	16845273				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Genet Med    2006    8(7)    409-16	Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring		607093		CDC	2006	These results point to a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome.											
151449	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Lee, H. C.  et al. 2006	16861746	MTHFR C677T			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Hum Reprod    2006	Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility		607093		CDC	2006	By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility.											
151450		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute|Leukemia, Lymphocytic, Acute, L1|Hematologic Diseases	1	1p36.3	MTHFR	11768373	11788702		Costea, I.  et al. 2006	16870553				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Haematologica    2006	Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia		607093		CDC	2006												
151451	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Chung, H. H.  et al. 2006	16875718				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		607093		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
151453	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Ischemia	1	1p36.3	MTHFR	11768373	11788702		Bosco, P.  et al. 2006	16894458				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Italian		CDC GDP info	4524	Hs.214142			Thromb Haemost    2006    96(2)    154-9	Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily		607093		CDC	2006												
151454		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Yamada, Y.  et al. 2006	16894468				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Thromb Haemost    2006    96(2)    220-7	Assessment of genetic risk for myocardial infarction		607093		CDC	2006												
151456		graft-versus-host disease	IMMUNE	IMM	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Graft vs Host Disease|Acute Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Robien, K.  et al. 2006	16920564				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Biol Blood Marrow Transplant    2006    12(9)    973-80	Methylenetetrahydrofolate Reductase and Thymidylate Synthase Genotypes and Risk of Acute Graft-versus-Host Disease Following Hematopoietic Cell Transplantation for Chronic Myelogenous Leukemia		607093		CDC	2006												
151457		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Ott, K.  et al. 2006	16929515			promoter	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Int J Cancer    2006	The thymidylate synthase tandem repeat promoter polymorphism		607093		CDC	2006			5-flurouracil									
151459		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Manuguerra, M. et al  et al. 2006	16956909				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		607093		CDC	2006												
151460	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Dalmaz, C. A.  et al. 2006	16963292				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Brazil	CDC GDP info	4524	Hs.214142			Blood Cells Mol Dis    2006	Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population		607093		CDC	2006	in the population analyzed, the presence of the genotype risk factors alone does not seem to be associated with the development of preeclampsia even in the severe presentation form.											
151461		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local	1	1p36.3	MTHFR	11768373	11788702		Hubner, R. A.  et al. 2006	16985020				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1607-13	Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence		607093		CDC	2006			folate									
151463		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Largillier, R.  et al. 2006	17000685				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Cancer Res    2006    12(18)    5496-502	Pharmacogenetics of capecitabine in advanced breast cancer patients		607093		CDC	2006	The present data suggest that 3RG3RG breast cancer patients are not good candidates for capecitabine therapy.		capecitabine									
151464		Buerger's disease	CARDIOVASCULAR	CARD	Thromboangiitis Obliterans|Marijuana Abuse	1	1p36.3	MTHFR	11768373	11788702		Glueck, C. J.  et al. 2006	17000887				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Appl Thromb Hemost    2006    12(4)    427-39	Stromelysin-1 5A/6A and eNOS T-786C Polymorphisms, MTHFR C677T and A1298C Mutations, and Cigarette-Cannabis Smoking		607093		CDC	2006			smoking cessation									
151465			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Hoppe, B.  et al. 2006	17003923				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	German		CDC GDP info	4524	Hs.214142			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		607093		CDC	2006												
151466		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1p36.3	MTHFR	11768373	11788702		Dervieux, T.  et al. 2006	17009228				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Arthritis Rheum    2006    54(10)    3095-3103	Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis		607093		CDC	2006	RBC MTXPG levels are a useful means by which to monitor therapy.											
151467		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	1	1p36.3	MTHFR	11768373	11788702		Yamaguchi, S.  et al. 2006	17016617				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		607093		CDC	2006												
151469	N	preterm delivery small-for-gestational age	REPRODUCTION	REP	Premature Birth|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Engel, S. M.  et al. 2006	17074544				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Am J Obstet Gynecol    2006    195(5)    1231.e1-11	Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small-for-gestational age birth		607093		CDC	2006	Our results suggest the possibility of a direct or indirect role for the SHMT1(1420)T variant in spontaneous preterm or SGA births.		folate									
151470	Y	Budd-Chiari syndrome liver transplant portal vein thrombosis	CARDIOVASCULAR	CARD	Liver Cirrhosis|Postoperative Complications	1	1p36.3	MTHFR	11768373	11788702		Pasta, L.  et al. 2006	17100732				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Transplant    2006    20(6)    796-8	MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis		607093		CDC	2006												
151471	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Biron-Andreani, C.  et al. 2006	17107352				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		607093		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
151474	N	brain cancer	CANCER	CAN	Glioblastoma|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Semmler, A.  et al. 2006	17119065				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDP info	4524	Hs.214142			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2314-2316	The Methionine Synthase Polymorphism c.2756A>G Alters Susceptibility to Glioblastoma Multiforme		607093		CDC	2006												
151475		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1p36.3	MTHFR	11768373	11788702		Lim, U.  et al. 2006	17119116				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		607093		CDC	2006			Vitamin B6									
151476		body mass	METABOLIC	MET	Obesity	1	1p36.3	MTHFR	11768373	11788702		Di Renzo, L.  et al. 2006	17121316				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDP info	4524	Hs.214142			Eur Rev Med Pharmacol Sci    2006    10(5)    235-45	Normal Weight Obese syndrome		607093		CDC	2006												
151478		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Pepe, C.  et al. 2006	17151928				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Breast Cancer Res Treat    2006	Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers		607093		CDC	2006												
151479		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Chen, K.  et al. 2006	17152488				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhonghua Zhong Liu Za Zhi    2006    28(6)    429-32	Association between genetic polymorphisms in folate metabolic enzyme genes and colorectal cancer		607093		CDC	2006	MTR2756G allele may be a risk factor of CRC, and interaction may exsit between polymorphisms of MTHFRA1298C and MTRA2756G.											
151480	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Bernstein, C. N.  et al. 2007	17156138				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Manitoba	CDC GDP info	4524	Hs.214142			Am J Gastroenterol    2007    102(2)    338-43	Mutations in clotting factors and inflammatory bowel disease		607093		CDC	2007	While there was a slightly greater prevalence of Factor XIII mutation carriership in CD, we did not find that gene mutations for these four common factors could explain the greater risk of venous thrombosis in CD and UC.											
151481	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Yu, H.  et al. 2006	17160942				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    635-9	Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis.		607093		CDC	2006	The homozygote of MTHFR C677T (TT) may be a risk factor of DVT.											
151482		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	1	1p36.3	MTHFR	11768373	11788702		Goddard, K. A.  et al. 2006	17179726				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		607093		CDC	2006												
151484			NORMALVARIATION	NV		1	1p36.3	MTHFR	11768373	11788702		Inoue, S.  et al. 2007	17187508				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Japanese;Caucasian		CDC GDP info	4524	Hs.214142			Pharmacogenomics    2007    8(1)    41-47	Pharmacogenetic study of methylenetetrahydrofolate reductase and thymidylate synthase in Japanese and assessment of ethnic and gender differences		607093		CDC	2007	Ethnic and gender variations in the distribution of these allelic frequencies may associate with the difference in the effects of methotrexate in rheumatoid arthritis patients.											
151485		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Bertram, L.  et al. 2007	17192785				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		607093		CDC	2007	odds ratios (ranging from 1.											
151487		leukemia, lymphoid leukemia, myeloid lymphoma, non-Hodgkin's multiple myeloma	CANCER	CAN	Hematologic Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Chen, B. A.  et al. 2006	17204166				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2006    14(6)    1069-73	A new method for 5, 10-methylenetetrahydrofolate reductase single nucleotide polymorphisms genotyping used to study susceptibility of hematological malignancy.		607093		CDC	2006												
151488	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Neoplasms, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Wang, Y.  et al. 2007	17206530				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		China	CDC GDP info	4524	Hs.214142			Cancer Causes Control    2007	Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China		607093		CDC	2007	The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated.											
151489		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Gotze, T.  et al. 2007	17208363				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Lett    2007	Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer		607093		CDC	2007												
151490		malaria, plasmodium falciparum	INFECTION	INF		1	1p36.3	MTHFR	11768373	11788702		Gueant, J. L.  et al. 2007	17220211				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Med Genet    2007	Environmental influence on the world-wide prevalence of a 776C>G variant in the transcobalamin gene (TCN2)		607093		CDC	2007	Given the dramatic heterogeneity of the 776G allele frequency worldwide, this polymorphism may be prone to a selective pressure or confers an evolutionary advantage in confronting environmental factors, one of which is malaria.											
151492		lung cancer	CANCER	CAN	Lung Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Gemignani, F.  et al. 2007	17259654				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Carcinogenesis    2007	Development of lung cancer before the age of 50		607093		CDC	2007												
151493	N	left ventricular mass myocardial infarct	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Myocardial Infarction	1	1p36.3	MTHFR	11768373	11788702		Goracy, J.  et al. 2006	17274465				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Polish		CDC GDP info	4524	Hs.214142			Pol Arch Med Wewn    2006    115(2)    105-11	Allelic variants of genes		607093		CDC	2006	Our results suggest that polymorphisms of the ACE, AT1R and MTHFR genes do not predispose to myocardial infarction and higher left ventricular mass in the Polish population.											
151495			HEMATOLOGICAL	HEM	Blood Coagulation Disorders, Inherited|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Said, J. M.  et al. 2006	17278618				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Australian;European;Asian	Australia	CDC GDP info	4524	Hs.214142			Hum Biol    2006    78(4)    403-12	Ethnic differences in the prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian prenatal population		607093		CDC	2006												
151496	N	atrial fibrillation stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Atrial Fibrillation|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Berge, E.  et al. 2007	17290027				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Stroke    2007	The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation		607093		CDC	2007	These mutations are not important risk factors for thromboembolic stroke associated with atrial fibrillation.											
151497		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism	1	1p36.3	MTHFR	11768373	11788702		Garcia-Hernandez, M. C.  et al. 2007	17306151				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Rev Clin Esp    2007    207(1)    26-28	Clinical comments on genetic marker prevalence (factor V Leiden, prothrombin 20210A and homozygous methylenetetrahydrofolate reductase form		607093		CDC	2007												
151498		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Moore, L. E.  et al. 2007	17311259				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		607093		CDC	2007			diet									
151500		methotrexate toxicity	PHARMACOGENOMIC	PHARM		1	1p36.3	MTHFR	11768373	11788702		Pakakasama, S.  et al. 2007	17323057				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Ann Hematol    2007	Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia		607093		CDC	2007												
151501		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sudden|Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Capaccio, P.  et al. 2007	17334320				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Laryngoscope    2007    117(3)    547-51	Genetic and acquired prothrombotic risk factors and sudden hearing loss		607093		CDC	2007	The association between inherited and acquired prothrombotic factors and sudden HL suggests that the microvascular impairment causing SSNHL may be caused by a multifactorial mechanism.											
151502		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Bolufer, P.  et al. 2007	17367411				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		607093		CDC	2007												
151503		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Xu, X.  et al. 2007	17372271				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Carcinogenesis    2007	Polymorphisms of One-carbon Metabolizing Genes and Risk of Breast Cancer in a Population-based Study		607093		CDC	2007			folate vitamins									
151505		homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Bathum, L.  et al. 2007	17412799				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Chem    2007	Genetic and Environmental Influences on Plasma Homocysteine		607093		CDC	2007	Homocysteine concentrations have a high heritability that decreases with age.											
151507		colorectal cancer	CANCER	CAN	Colonic Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Curtin, K.  et al. 2007	17449906				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		607093		CDC	2007			alcohol folate methionine Vitamin B12									
151508	Y	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Engstrom, K. S.  et al. 2007	17450230				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism		607093		CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
151509		leukemia	CANCER	CAN		1	1p36.3	MTHFR	11768373	11788702		Petra, B. G.  et al. 2007	17454638				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Leuk Lymphoma    2007    48(4)    786-92	Gene - gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children		607093		CDC	2007												
151510		thrombosis, cerebral	CARDIOVASCULAR	CARD	Intracranial Thrombosis	1	1p36.3	MTHFR	11768373	11788702		Ozyurek, E.  et al. 2007	17456624				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Turkish		CDC GDP info	4524	Hs.214142			Clin Appl Thromb Hemost    2007    13(2)    154-60	Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis		607093		CDC	2007												
151511	Y	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	1	1p36.3	MTHFR	11768373	11788702		Guillem, V. M.  et al. 2007	17476281	(MTHFR(2), 677C>T, 1298A>C),			Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		607093		CDC	2007												
151512		neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		van der Linden, I. J.  et al. 2007	17479212				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Hum Genet    2007	The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk		607093		CDC	2007			homocysteine									
151513		stroke	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Shen, C. D.  et al. 2007	17521309				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Ann Hum Genet    2007	Interaction of Genetic Risk Factors Confers Higher Risk for Thrombotic Stroke in Male Chinese		607093		CDC	2007	our results show that a combination of genetic risk factors can confer a higher risk for stroke than a single risk factor, indicating that people with multiple genetic risk factors have a higher risk of stroke and should be targets for prevention of this disease.											
151515		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Matakidou, A.  et al. 2007	17533396				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDP info	4524	Hs.214142			Br J Cancer    2007	Prognostic significance of folate metabolism polymorphisms for lung cancer		607093		CDC	2007												
151516	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Xu, L.  et al. 2007	17537304				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Zhonghua Fu Chan Ke Za Zhi    2007    42(3)    180-3	Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion		607093		CDC	2007	The genetic polymorphisms of MTHFR C677T are associated with URESA.											
151517	N	cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Romero, A.  et al. 2007	17537363				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Med Clin (Barc)    2007    128(17)    655-6	Genetic thrombophilia and cerebral venous thrombosis.		607093		CDC	2007	The presence of factor V Leiden and PT 20210A are risk factors for SCVT, but not the mutation of the MTHR.											
151518		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Kim, H. N.  et al. 2007	17546637				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Korean		CDC GDP info	4524	Hs.214142			Am J Hematol    2007	Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma		607093		CDC	2007												
151520		skin lesions, arsenic-induced	PHARMACOGENOMIC	PHARM	Precancerous Conditions|Arsenic Poisoning|Skin Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Ahsan, H.  et al. 2007	17548696				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1270-8	Arsenic metabolism, genetic susceptibility, and risk of premalignant skin lesions in bangladesh		607093		CDC	2007			arsenic									
151522	N	atrial fibrillation homocysteine	CHEMDEPENDENCY	CHEM		1	1p36.3	MTHFR	11768373	11788702		Giusti, B.  et al. 2007	17551576				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			PLoS ONE    2007    2    e495	Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility		607093		CDC	2007	Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination.											
151523		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Urreizti, R.  et al. 2007	17553479				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Biochem    2007	A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study		607093		CDC	2007	Our results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies.											
151524		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Recurrence	1	1p36.3	MTHFR	11768373	11788702		Pare, L.  et al. 2007	17581305				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Anticancer Drugs    2007    18(7)    821-825	Influence of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms on the disease-free survival of breast cancer patients receiving adjuvant 5-fluorouracil/methotrexate-based therapy		607093		CDC	2007			5-flurouracil methotrexate									
151525		DNA damage	OTHER	OTH	DNA Damage	1	1p36.3	MTHFR	11768373	11788702		Novotna, B.  et al. 2007	17590289				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Toxicol Lett    2007	Impact of air pollution and genotype variability on DNA damage in Prague policemen		607093		CDC	2007			polycyclic aromatic hydrocarbons vitamin C									
151527		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Suzuki, T.  et al. 2007	17596206				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Sci    2007	One-carbon metabolism-related gene polymorphisms and risk of head and neck squamous cell carcinoma		607093		CDC	2007			alcohol folate smoking (tobacco)									
151528		cholesterol, HDL	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Heidema, A. G.  et al. 2007	17615573				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Genet Epidemiol    2007	Analysis of multiple SNPs in genetic association studies		607093		CDC	2007	the application of a combination of multi-locus methods is a useful approach in genetic association studies to select a well-defined set of important SNPs for further statistical and epidemiological interpretation, providing increased confidence and more information compared with the application of only one method. Genet. Epidemiol. 2007. (c) 2007 Wiley-Liss, Inc.											
151529		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	15	15q25.1	MTHFS	77924374	77976395		Lim, U.  et al. 2006	17119116				5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK054972			CDC GDP info	10588	Hs.459049			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma				CDC	2006			Vitamin B6									
151530		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1p	MTL1				Ahari, S. E.  et al. 2007	17619138				metallothionein-like 1		Iranian		CDC GDP info	4529				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients				CDC	2007												
151531		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			MT-ND1				Tang, D. L.  et al. 2006	16414144				mitochondrially encoded NADH dehydrogenase 1				CDC GDP info	4535				Diabetes Res Clin Pract    2006    73(1)    77-82	Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population		516000		CDC	2006												
151532		glaucoma, primary open-angle	VISION	VIS	Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle			MT-ND1				Inagaki, Y.  et al. 2006	16604388				mitochondrially encoded NADH dehydrogenase 1			Japan	CDC GDP info	4535				Jpn J Ophthalmol    2006    50(2)    128-34	Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma		516000		CDC	2006	Rare LHON-associated mitochondrial DNA mutations were found in Japanese patients with open-angle glaucoma (OAG). However, whether mitochondrial DNA mutations are risk factors for OAG is still open to question.											
151533		diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease			MT-ND1				Crispim, D.  et al. 2006	16759180				mitochondrially encoded NADH dehydrogenase 1		Brazilian;CaucEuropean		CDC GDP info	4535				Ann Hum Genet    2006    70(Pt 4)    488-95	The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes		516000		CDC	2006	our results indicate the association of the cluster J/T (as suggested by analyses of the m.4216T > C and m.4917A > G variants) with insulin resistance and type 2 diabetes.											
151534		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease			MT-ND1				Swerdlow, R. H.  et al. 2006	16784756				mitochondrially encoded NADH dehydrogenase 1			Virginia	CDC GDP info	4535				J Neurol Sci    2006	Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease		516000		CDC	2006												
151535		endometrial cancer	CANCER	CAN	Endometrial Neoplasms			MT-ND1				Xu, L.  et al. 2006	16884381				mitochondrially encoded NADH dehydrogenase 1				CDC GDP info	4535				Int J Gynecol Cancer    2006    16(4)    1661-1667	Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China		516000		CDC	2006												
151536		diabetes, type 2	METABOLIC	MET				MT-ND1				Zhao, J.  et al. 2006	17035175				mitochondrially encoded NADH dehydrogenase 1				CDC GDP info	4535				Yi Chuan    2006    28(10)    1206-12	Detecting of mtDNA Mutations at Position A3243G and G3316A in Patients with type 2 Diabetes Mellitus in Wenzhou.		516000		CDC	2006												
151537		Leber hereditary optic neuropathy	VISION	VIS	Optic Atrophy, Hereditary, Leber			MT-ND1				Shafa Shariat Panahi, M.  et al. 2006	17045122				mitochondrially encoded NADH dehydrogenase 1		Iranian		CDC GDP info	4535				Arch Med Res    2006    37(8)    1028-33	Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations		516000		CDC	2006	The analysis presented here provides evidence that there is an association between G11778A and G3460A with haplogroup J (including J1 and J2) and W, respectively.											
151538	Y	diabetes, type 2	METABOLIC	MET				MT-ND1				Liu, S. M.  et al. 2006	17200023				mitochondrially encoded NADH dehydrogenase 1				CDC GDP info	4535				Zhonghua Yi Xue Za Zhi    2006    86(40)    2853-7	Development of a DNA chip screening mitochondrial DNA mutations in patients with diabetes mellitus.		516000		CDC	2006	mtDNA chip is a rapid and reliable high-throughput method for mutations detection, and T3 394C mutation in ND1 gene might contribute to the pathogenesis of mitochondrial diabetes.											
151539	N	SIDS/sudden infant death syndrome	OTHER	OTH	Long QT Syndrome|Sudden Infant Death			MT-ND1				Arnestad, M.  et al. 2007	17429906				mitochondrially encoded NADH dehydrogenase 1				CDC GDP info	4535				Acta Paediatr    2007    96(2)    206-10	A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome		516000		CDC	2007	The mtDNA polymorphism studied was found in a small number of SIDS cases and the frequency did not differ statistically from control subjects, making an association with increased SIDS risk unlikely.											
151540		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis			MT-ND1				Ahari, S. E.  et al. 2007	17619138				mitochondrially encoded NADH dehydrogenase 1		Iranian		CDC GDP info	4535				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients		516000		CDC	2007												
151541	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease			MT-ND2					16520888				mitochondrially encoded NADH dehydrogenase 2				CDC GDP info	4536				Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		516001		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
151542		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms			MT-ND2				Dai, J. G.  et al. 2006	16763358				mitochondrially encoded NADH dehydrogenase 2				CDC GDP info	4536				Indian J Cancer    2006    43(1)    20-5	Mitochondrial DNA 4977 BP deletion mutations in lung carcinoma		516001		CDC	2006	Mitochondrial DNA 4,977 bp deletion, which is not specific to lung cancer, may reflect the environmental and aging process influences operative during tumor progression.											
151543		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease			MT-ND2				Swerdlow, R. H.  et al. 2006	16784756				mitochondrially encoded NADH dehydrogenase 2			Virginia	CDC GDP info	4536				J Neurol Sci    2006	Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease		516001		CDC	2006												
151544		uric acid	METABOLIC	MET	Hyperuricemia			MT-ND2				Kokaze, A.  et al. 2006	16897192				mitochondrially encoded NADH dehydrogenase 2				CDC GDP info	4536				J Hum Genet    2006	Longevity-associated NADH dehydrogenase subunit-2 237 Leu/Met polymorphism influences the effects of alcohol consumption on serum uric acid levels in nonobese Japanese men		516001		CDC	2006			alcohol obesity									
151545	Y	GSTM1 methylation infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease			MT-ND2				Dhillon, V. S.  et al. 2007	17277043				mitochondrially encoded NADH dehydrogenase 2				CDC GDP info	4536				Mol Hum Reprod    2007	Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men		516001		CDC	2007			folate									
151546		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease			MT-ND2				Kokaze, A.  et al. 2007	17510502				mitochondrially encoded NADH dehydrogenase 2			Japan	CDC GDP info	4536				Hypertens Res    2007    30(3)    213-8	NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modifies the effects of alcohol consumption on risk for hypertension in middle-aged Japanese men		516001		CDC	2007			alcohol									
151547		breast cancer breast disease, benign	CANCER	CAN				MT-ND2				Ye, C.  et al. 2007	17541740				mitochondrially encoded NADH dehydrogenase 2				CDC GDP info	4536				Breast Cancer Res Treat    2007	Quantitative analysis of mitochondrial DNA 4977-bp deletion in sporadic breast cancer and benign breast diseases		516001		CDC	2007												
151548		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease			MT-ND3				Bhat, A.  et al. 2006	17066297				mitochondrially encoded NADH dehydrogenase 3		Indian		CDC GDP info	4537				Hum Genet    2006	The possible role of 10398A and 16189C mtDNA variants in providing susceptibility toT2DM in two North Indian populations		516002		CDC	2006												
151549		breast cancer esophageal cancer	CANCER	CAN	Breast Neoplasms|Esophageal Neoplasms			MT-ND3				Darvishi, K.  et al. 2006	17081685				mitochondrially encoded NADH dehydrogenase 3			India	CDC GDP info	4537				Cancer Lett    2006	Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer		516002		CDC	2006	 drawn of mt10398A allele providing a risk towards cancer is confirmed in a case-control comparison study of 124 sporadic breast cancer patients and 273 controls; and 55 squamous cell carcinoma of esophagus, ESCC, and 163 controls, matched for age, ethnicity and sex from north India. It is further apparent from the study that such a mtDNA polymorphism background provides a higher risk for the cancers of the tissues which could be affected by environmental insults directly as in the ESCC, observed with a high acquired (somatic) rate of mutation in p53 when compared to the breast cancer, suggesting that the mtDNA variants that arose as energetic adaptations, influence our health differentially under different environment conditions and a given genetic background of the mt genome.											
151550	N	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease			MT-ND3				Opdal, S. H.  et al. 2007	17429907				mitochondrially encoded NADH dehydrogenase 3				CDC GDP info	4537				Acta Paediatr    2007    96(2)    211-4	Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome		516002		CDC	2007	The present study does not indicate an association between a specific mitochondrial tRNA gene mutation and SIDS, nor a higher mtDNA tRNA mutation frequency in SIDS cases than in controls.											
151551		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Genetic Predisposition to Disease			MT-ND3				Simon, D. K.  et al. 2007	17620498				mitochondrially encoded NADH dehydrogenase 3				CDC GDP info	4537				Arch Neurol    2007    64(7)    1042-4	Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2		516002		CDC	2007	Contrary to our prediction of a later onset of SCA2 in patients with the 10398G polymorphism, we find that this variant is associated with an earlier age at onset in Cuban patients with SCA2.											
151552		glaucoma, primary open-angle	VISION	VIS	Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle			MT-ND4				Inagaki, Y.  et al. 2006	16604388				mitochondrially encoded NADH dehydrogenase 4			Japan	CDC GDP info	4538				Jpn J Ophthalmol    2006    50(2)    128-34	Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma		516003		CDC	2006	Rare LHON-associated mitochondrial DNA mutations were found in Japanese patients with open-angle glaucoma (OAG). However, whether mitochondrial DNA mutations are risk factors for OAG is still open to question.											
151553		Leber hereditary optic neuropathy	VISION	VIS	Optic Atrophy, Hereditary, Leber			MT-ND4				Shafa Shariat Panahi, M.  et al. 2006	17045122				mitochondrially encoded NADH dehydrogenase 4		Iranian		CDC GDP info	4538				Arch Med Res    2006    37(8)    1028-33	Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations		516003		CDC	2006	The analysis presented here provides evidence that there is an association between G11778A and G3460A with haplogroup J (including J1 and J2) and W, respectively.											
151554		oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia|Genetic Predisposition to Disease			MT-ND4				Selvi Rani, D.  et al. 2006	17069814				mitochondrially encoded NADH dehydrogenase 4		Indian	India	CDC GDP info	4538				Fertil Steril    2006    86(6)    1783-5	A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent		516003		CDC	2006												
151555	N	body mass diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus			MT-ND4				Wang, S.  et al. 2006	17160945				mitochondrially encoded NADH dehydrogenase 4				CDC GDP info	4538				Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    652-4	Prevalence and clinical characteristics of the A to G variant at position 12026 of the mitochondrial ND4 gene in familial diabetes mellitus in Chinese population.		516003		CDC	2006	The mt12026 A --> G variant is a mitochondrial gene polymorphism in Chinese population, and it is unlikely that the mutation is in itself the cause of diabetes.											
151556	P		NORMALVARIATION	NV				MT-ND4				Pereira, L.  et al. 2007	17517394				mitochondrially encoded NADH dehydrogenase 4		Indian;Portuguese		CDC GDP info	4538				Fertil Steril    2007	Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal		516003		CDC	2007												
151558		oxidative phosphorylation disease	METABOLIC	MET	MELAS Syndrome|Leigh Disease|Mitochondrial Diseases|Diseases in Twins			MT-ND5				Blok, M. J.  et al. 2007	17400793				mitochondrially encoded NADH dehydrogenase 5				CDC GDP info	4540				J Med Genet    2007    44(4)    e74	Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease		516005		CDC	2007	Mutation screening of the ND5 gene is advised for routine diagnostics of patients with OXPHOS disease, especially for those with MELAS- and Leigh-like syndrome with a complex I deficiency.											
151559		glaucoma, primary open-angle	VISION	VIS	Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle			MT-ND6				Inagaki, Y.  et al. 2006	16604388				mitochondrially encoded NADH dehydrogenase 6			Japan	CDC GDP info	4541				Jpn J Ophthalmol    2006    50(2)    128-34	Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma		516006		CDC	2006	Rare LHON-associated mitochondrial DNA mutations were found in Japanese patients with open-angle glaucoma (OAG). However, whether mitochondrial DNA mutations are risk factors for OAG is still open to question.											
151561		scoliosis	OTHER	OTH	Scoliosis|Genetic Predisposition to Disease	11	11q21-q22	MTNR1B	92342436	92355596		Qiu, X. S.  et al. 2006	17108395				Melatonin receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005959.3			CDC GDP info	4544	Hs.569039			Stud Health Technol Inform    2006    123    3-8	The Role of Melatonin Receptor 1B Gene (MTNR1B) in Adolescent Idiopathic Scoliosis - A Genetic Association Study		600804		CDC	2006												
151562			NORMALVARIATION	NV		1	1q43	MTR	235025340	235130583		Hamajima, N.  et al. 2002	12164325				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		156570		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
151563	P	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	1	1q43	MTR	235025340	235130583		Li, Y.  et al. 2005	15719048				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Beijing Da Xue Xue Bao    2005    37(1)    75-80	Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease		156570		CDC	2005	The study showed presence of ethnic and district difference of gene polymorphisms at these four loci.											
151564		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583			16328059				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		156570		CDC	2006												
151566		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Martinelli, M.  et al. 2006	16470748				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Hum Mutat    2006    27(3)    294	Study of four genes belonging to the folate pathway		156570		CDC	2006	obtained with additional TCN2 polymorphisms suggest that c.											
151567		chromosomal damage	OTHER	OTH	DNA Damage	1	1q43	MTR	235025340	235130583		Ishikawa, H.  et al. 2006	16580699				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Mutat Res    2006	A polymorphism of the methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers		156570		CDC	2006			smoking (tobacco)									
151569	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Lee, H. C.  et al. 2006	16861746	MS A2756G			5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Hum Reprod    2006	Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility		156570		CDC	2006	By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility.											
151570	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Ischemia	1	1q43	MTR	235025340	235130583		Bosco, P.  et al. 2006	16894458				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Italian		CDC GDP info	4548	Hs.498187			Thromb Haemost    2006    96(2)    154-9	Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily		156570		CDC	2006												
151571	N	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1q43	MTR	235025340	235130583		Wessels, J. A.  et al. 2006	16947783				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Arthritis Rheum    2006    54(9)    2830-2839	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis		156570		CDC	2006	Polymorphisms in the AMPD1, ATIC, and ITPA genes are associated with good clinical response to MTX treatment.		methotrexate									
151572		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local	1	1q43	MTR	235025340	235130583		Hubner, R. A.  et al. 2006	16985020				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1607-13	Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence		156570		CDC	2006			folate									
151573	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1q43	MTR	235025340	235130583		Boyles, A. L.  et al. 2006	17035141				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Caucasian		CDC GDP info	4548	Hs.498187			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		156570		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
151575	Y	brain cancer	CANCER	CAN	Glioblastoma|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Semmler, A.  et al. 2006	17119065				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Caucasian		CDC GDP info	4548	Hs.498187			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2314-2316	The Methionine Synthase Polymorphism c.2756A>G Alters Susceptibility to Glioblastoma Multiforme		156570		CDC	2006												
151576		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	1	1q43	MTR	235025340	235130583		Lim, U.  et al. 2006	17119116				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		156570		CDC	2006			Vitamin B6									
151577		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Neoplasms, Multiple Primary|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Pepe, C.  et al. 2006	17151928				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Breast Cancer Res Treat    2006	Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers		156570		CDC	2006												
151578		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Chen, K.  et al. 2006	17152488				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Zhonghua Zhong Liu Za Zhi    2006    28(6)    429-32	Association between genetic polymorphisms in folate metabolic enzyme genes and colorectal cancer		156570		CDC	2006	MTR2756G allele may be a risk factor of CRC, and interaction may exsit between polymorphisms of MTHFRA1298C and MTRA2756G.											
151580		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Zhang, F. F.  et al. 2007	17220339				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Cancer Epidemiol Biomarkers Prev    2007    16(1)    115-21	Genetic polymorphisms in folate metabolism and the risk of stomach cancer		156570		CDC	2007												
151581		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Moore, L. E.  et al. 2007	17311259				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		156570		CDC	2007			diet									
151582		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Lissowska, J.  et al. 2007	17311260				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1		Poland	CDC GDP info	4548	Hs.498187			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		156570		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
151585		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	1	1q43	MTR	235025340	235130583		Fredriksen, A.  et al. 2007	17436311				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		156570		CDC	2007												
151586		colorectal cancer	CANCER	CAN	Colonic Neoplasms	1	1q43	MTR	235025340	235130583		Curtin, K.  et al. 2007	17449906				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		156570		CDC	2007			alcohol folate methionine Vitamin B12									
151587	Y	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Engstrom, K. S.  et al. 2007	17450230				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism		156570		CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
151588		leukemia	CANCER	CAN		1	1q43	MTR	235025340	235130583		Petra, B. G.  et al. 2007	17454638				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Leuk Lymphoma    2007    48(4)    786-92	Gene - gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children		156570		CDC	2007												
151589	Y	homocysteine	METABOLIC	MET		1	1q43	MTR	235025340	235130583		Barbosa, P. R.  et al. 2007	17522601				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	European		CDC GDP info	4548	Hs.498187			Eur J Clin Nutr    2007	Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women		156570		CDC	2007	Serum folate and MTHFR C677T and MTR A2576G gene polymorphisms were the determinants for tHcy levels.		cobalamin folate									
151590		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1q43	MTR	235025340	235130583		Matakidou, A.  et al. 2007	17533396				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Caucasian		CDC GDP info	4548	Hs.498187			Br J Cancer    2007	Prognostic significance of folate metabolism polymorphisms for lung cancer		156570		CDC	2007												
151591		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Kim, H. N.  et al. 2007	17546637				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1	Korean		CDC GDP info	4548	Hs.498187			Am J Hematol    2007	Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma		156570		CDC	2007												
151593		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Urreizti, R.  et al. 2007	17553479				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Clin Biochem    2007	A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study		156570		CDC	2007	Our results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies.											
151594		DNA damage	OTHER	OTH	DNA Damage	1	1q43	MTR	235025340	235130583		Novotna, B.  et al. 2007	17590289				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Toxicol Lett    2007	Impact of air pollution and genotype variability on DNA damage in Prague policemen		156570		CDC	2007			polycyclic aromatic hydrocarbons vitamin C									
151595		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q43	MTR	235025340	235130583		Yu, C. P.  et al. 2007	17595805				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Anticancer Res    2007    27(3B)    1727-32	Breast cancer risk associated with multigenotypic polymorphisms in folate-metabolizing genes		156570		CDC	2007	The present study indicates the significance of multiple low-penetrance alleles of functionally-related folate-metabolizing genes interactive with an estrogenic environment in breast tumorigenesis.											
151596		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Suzuki, T.  et al. 2007	17596206				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Cancer Sci    2007	One-carbon metabolism-related gene polymorphisms and risk of head and neck squamous cell carcinoma		156570		CDC	2007			alcohol folate smoking (tobacco)									
151597	Y	homocysteine rheumatoid arthritis rheumatoid nodulosis	METABOLIC	MET	Arthritis, Rheumatoid|Rheumatic Nodule	1	1q43	MTR	235025340	235130583		Berkun, Y.  et al. 2007	17611986				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			J Rheumatol    2007	2756GG Genotype of Methionine Synthase Reductase Gene Is More Prevalent in Rheumatoid Arthritis Patients Treated with Methotrexate and Is Associated with Methotrexate-Induced Nodulosis		156570		CDC	2007	In our population of MTX-treated RA patients the 2756GG genotype of the MTR gene was more common than expected and was associated with MIARN.		methotrexate									
151599		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss|Syndrome|Genetic Predisposition to Disease			MT-RNR1					16406239				mitochondrially encoded 12S RNA		Tunisian	Tunisia	CDC GDP info	4549				Biochem Biophys Res Commun    2006    340(4)    1251-1258	Mutational analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in Tunisian patients with nonsyndromic hearing loss		561000		CDC	2006												
151600		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			MT-RNR1				Tang, D. L.  et al. 2006	16414144				mitochondrially encoded 12S RNA				CDC GDP info	4549				Diabetes Res Clin Pract    2006    73(1)    77-82	Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population		561000		CDC	2006												
151601		deafness	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease			MT-RNR1				Abreu-Silva, R. S.  et al. 2006	16470309				mitochondrially encoded 12S RNA		Brazilian;European;Native American		CDC GDP info	4549				Braz J Med Biol Res    2006    39(2)    219-26	Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients		561000		CDC	2006												
151602		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss			MT-RNR1				Samanich, J.  et al. 2007	17357124				mitochondrially encoded 12S RNA		African American;Hispanic Caucasian	Caribbean Region	CDC GDP info	4549				Am J Med Genet A    2007	Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment		561000		CDC	2007												
151603		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss, Sensorineural|Genetic Predisposition to Disease			MT-RNR1				Circir, Y. E.  et al. 2007	17527057				mitochondrially encoded 12S RNA				CDC GDP info	4549				Kulak Burun Bogaz Ihtis Derg    2007    17(2)    75-80	Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss.		561000		CDC	2007	Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.											
151604		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			MT-RNR2					16401312				mitochondrially encoded 12S RNA		Brazilian;Caucasian	Brazil	CDC GDP info	4549				Diabet Med    2005    22(12)    1683-9	The G1888A variant in the mitochondrial 16S rRNA gene may be associated with Type 2 diabetes in Caucasian-Brazilian patients from southern Brazil				CDC	2005	The present study indicates the association of the mitochondrial G1888A variant with Type 2 diabetes and insulin resistance in Caucasian-Brazilian patients from southern Brazil. However, further studies are required to confirm its effects on mitochondrial function and the role of these effects on the pathogenesis of Type 2 diabetes.											
151605		endometrial cancer	CANCER	CAN	Endometrial Neoplasms			MT-RNR2				Xu, L.  et al. 2006	16884381				mitochondrially encoded 12S RNA				CDC GDP info	4549				Int J Gynecol Cancer    2006    16(4)    1661-1667	Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China				CDC	2006												
151606		diabetes, type 2	METABOLIC	MET				MT-RNR2				Ji, J.  et al. 2007	17407074				mitochondrially encoded 12S RNA				CDC GDP info	4549				Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    167-72	Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus.				CDC	2007	Mitochondrial DNA mutations might implicate T2DM in Wenzhou population, which should play an important role in the pathogenesis of T2DM.											
151607		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Martinelli, M.  et al. 2006	16470748				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Hum Mutat    2006    27(3)    294	Study of four genes belonging to the folate pathway		602568		CDC	2006	obtained with additional TCN2 polymorphisms suggest that c.											
151609	Y	folate homocysteine vitamin B12	METABOLIC	MET	Hyperhomocysteinemia	5	5p15.3-p15.2	MTRR	7922216	7954235		Alessio, A. C.  et al. 2006	16820193				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Brazilian		CDC GDP info	4552	Hs.481551			Thromb Res    2006	Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B(12) concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children		602568		CDC	2006												
151610	Y	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Lee, H. C.  et al. 2006	16861746	MTRR A66G			5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Hum Reprod    2006	Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility		602568		CDC	2006	By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that MTHFR C677T, MS A2756G and MTRR A66G genotypes were independently associated with male infertility.											
151611	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Ischemia	5	5p15.3-p15.2	MTRR	7922216	7954235		Bosco, P.  et al. 2006	16894458				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Italian		CDC GDP info	4552	Hs.481551			Thromb Haemost    2006    96(2)    154-9	Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily		602568		CDC	2006												
151613		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local	5	5p15.3-p15.2	MTRR	7922216	7954235		Hubner, R. A.  et al. 2006	16985020				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1607-13	Folate metabolism polymorphisms influence risk of colorectal adenoma recurrence		602568		CDC	2006			folate									
151614		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	5	5p15.3-p15.2	MTRR	7922216	7954235		Dervieux, T.  et al. 2006	17009228				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Arthritis Rheum    2006    54(10)    3095-3103	Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis		602568		CDC	2006	RBC MTXPG levels are a useful means by which to monitor therapy.											
151615	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	5	5p15.3-p15.2	MTRR	7922216	7954235		Boyles, A. L.  et al. 2006	17035141				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Caucasian		CDC GDP info	4552	Hs.481551			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		602568		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
151616	N	preterm delivery small-for-gestational age	REPRODUCTION	REP	Premature Birth|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Engel, S. M.  et al. 2006	17074544				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Am J Obstet Gynecol    2006    195(5)    1231.e1-11	Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small-for-gestational age birth		602568		CDC	2006	Our results suggest the possibility of a direct or indirect role for the SHMT1(1420)T variant in spontaneous preterm or SGA births.		folate									
151617		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	5	5p15.3-p15.2	MTRR	7922216	7954235		Lim, U.  et al. 2006	17119116				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		602568		CDC	2006			Vitamin B6									
151619		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Chen, K.  et al. 2006	17152488				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Zhonghua Zhong Liu Za Zhi    2006    28(6)    429-32	Association between genetic polymorphisms in folate metabolic enzyme genes and colorectal cancer		602568		CDC	2006	MTR2756G allele may be a risk factor of CRC, and interaction may exsit between polymorphisms of MTHFRA1298C and MTRA2756G.											
151620		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Zhang, F. F.  et al. 2007	17220339				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Cancer Epidemiol Biomarkers Prev    2007    16(1)    115-21	Genetic polymorphisms in folate metabolism and the risk of stomach cancer		602568		CDC	2007												
151622		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Lissowska, J.  et al. 2007	17311260				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1		Poland	CDC GDP info	4552	Hs.481551			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		602568		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
151623	N	placental abruption	REPRODUCTION	REP	Abruptio Placentae	5	5p15.3-p15.2	MTRR	7922216	7954235		Ananth, C. V.  et al. 2007	17376725				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Mol Genet Metab    2007	Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes		602568		CDC	2007	In this population, there was an association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption.											
151624		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	5	5p15.3-p15.2	MTRR	7922216	7954235		Fredriksen, A.  et al. 2007	17436311				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		602568		CDC	2007												
151626		homocysteine	METABOLIC	MET		5	5p15.3-p15.2	MTRR	7922216	7954235		Barbosa, P. R.  et al. 2007	17522601				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	European		CDC GDP info	4552	Hs.481551			Eur J Clin Nutr    2007	Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women		602568		CDC	2007	Serum folate and MTHFR C677T and MTR A2576G gene polymorphisms were the determinants for tHcy levels.		cobalamin folate									
151627		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	5	5p15.3-p15.2	MTRR	7922216	7954235		Matakidou, A.  et al. 2007	17533396				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Caucasian		CDC GDP info	4552	Hs.481551			Br J Cancer    2007	Prognostic significance of folate metabolism polymorphisms for lung cancer		602568		CDC	2007												
151628		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Kim, H. N.  et al. 2007	17546637				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1	Korean		CDC GDP info	4552	Hs.481551			Am J Hematol    2007	Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma		602568		CDC	2007												
151629		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Urreizti, R.  et al. 2007	17553479				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Clin Biochem    2007	A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study		602568		CDC	2007	Our results not only highlight the involvement of the MSR and CBS genes in the etiology of cardiovascular disease, but also emphasize the strength of haplotype analyses in association studies.											
151630		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Suzuki, T.  et al. 2007	17596206				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Cancer Sci    2007	One-carbon metabolism-related gene polymorphisms and risk of head and neck squamous cell carcinoma		602568		CDC	2007			alcohol folate smoking (tobacco)									
151631		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			MT-TE				Tang, D. L.  et al. 2006	16414144				mitochondrially encoded tRNA glutamic acid				CDC GDP info	4556				Diabetes Res Clin Pract    2006    73(1)    77-82	Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population		590025		CDC	2006												
151632		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease			MT-TG				Swerdlow, R. H.  et al. 2006	16784756				mitochondrially encoded tRNA glycine			Virginia	CDC GDP info	4563				J Neurol Sci    2006	Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease		590035		CDC	2006												
151633	N	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X			MT-TI				Maasz, A.  et al. 2006	16734181				mitochondrially encoded tRNA isoleucine			Hungary	CDC GDP info	4565				Orv Hetil    2006    147(15)    693-6	Search for mitochondrial DNA T4291C mutation in Hungarian patients with metabolic syndrome				CDC	2006	The T4291C mtDNA variant could not be detected in any of these patients suggesting that this alteration is likely rare in the Hungarian metabolic syndrome population.											
151634	N	ataxia (SCA)	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Spinocerebellar Degenerations|Genetic Predisposition to Disease			MT-TK				Lee, Y. C.  et al. 2007	17300808				mitochondrially encoded tRNA lysine			Taiwan	CDC GDP info	4566				J Neurol Sci    2007	Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan		590060		CDC	2007	The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. Routine screening for these mutations in ataxia patients with Chinese origin is of limited clinical value.											
151635		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis			MT-TK				Ahari, S. E.  et al. 2007	17619138				mitochondrially encoded tRNA lysine		Iranian		CDC GDP info	4566				Cell Mol Neurobiol    2007	Investigation on Mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian Multiple Sclerosis Patients		590060		CDC	2007												
151636		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2			MT-TL1				Tang, D. L.  et al. 2006	16414144				mitochondrially encoded tRNA leucine 1 (UUA/G)				CDC GDP info	4567				Diabetes Res Clin Pract    2006    73(1)    77-82	Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population		590050		CDC	2006												
151637		endometrial cancer	CANCER	CAN	Endometrial Neoplasms			MT-TL1				Xu, L.  et al. 2006	16884381				mitochondrially encoded tRNA leucine 1 (UUA/G)				CDC GDP info	4567				Int J Gynecol Cancer    2006    16(4)    1661-1667	Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China		590050		CDC	2006												
151638		diabetes, type 2	METABOLIC	MET				MT-TL1				Zhao, J.  et al. 2006	17035175				mitochondrially encoded tRNA leucine 1 (UUA/G)				CDC GDP info	4567				Yi Chuan    2006    28(10)    1206-12	Detecting of mtDNA Mutations at Position A3243G and G3316A in Patients with type 2 Diabetes Mellitus in Wenzhou.		590050		CDC	2006												
151639		diabetes, type 1	IMMUNE	IMM	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Hyperglycemia			MT-TL1				Kawasaki, E.  et al. 2006	17130528				mitochondrially encoded tRNA leucine 1 (UUA/G)			Japan	CDC GDP info	4567				Ann N Y Acad Sci    2006    1079    24-30	Genetics of fulminant type 1 diabetes		590050		CDC	2006												
151640	N	ataxia (SCA)	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Spinocerebellar Degenerations|Genetic Predisposition to Disease			MT-TL1				Lee, Y. C.  et al. 2007	17300808				mitochondrially encoded tRNA leucine 1 (UUA/G)			Taiwan	CDC GDP info	4567				J Neurol Sci    2007	Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan		590050		CDC	2007	The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. Routine screening for these mutations in ataxia patients with Chinese origin is of limited clinical value.											
151641		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Hearing Loss			MT-TL1				Samanich, J.  et al. 2007	17357124				mitochondrially encoded tRNA leucine 1 (UUA/G)		African American;Hispanic Caucasian	Caribbean Region	CDC GDP info	4567				Am J Med Genet A    2007	Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment		590050		CDC	2007												
151642	N	liver steatosis	OTHER	OTH	Hepatitis C, Chronic|Fatty Liver|Liver Cirrhosis	4	4q24	MTTP	100715003	100763649		Petit, J. M.  et al. 2006	16458034				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDP info	4547	Hs.195799			Mol Genet Metab    2006	Lack of association between microsomal triglyceride transfer protein gene polymorphism and liver steatosis in HCV-infected patients		157147		CDC	2006	The functional G/T MTP polymorphism do not seem to play any role in the development of steatosis in chronic hepatitis C.											
151643		longevity	AGING	AGE		4	4q24	MTTP	100715003	100763649		Beekman, M.  et al. 2006	16611701				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	Caucasian		CDC GDP info	4547	Hs.195799			J Gerontol A Biol Sci Med Sci    2006    61(4)    355-62	Chromosome 4q25, microsomal transfer protein gene, and human longevity		157147		CDC	2006												
151644	Y	blood pressure, arterial diabetes, type 2 glucose insulin	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X	4	4q24	MTTP	100715003	100763649		Rubin, D.  et al. 2006	16721486				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDP info	4547	Hs.195799			J Hum Genet    2006	A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels		157147		CDC	2006												
151645	N	longevity	CARDIOVASCULAR	CARD	Cardiovascular Diseases	4	4q24	MTTP	100715003	100763649		Neville, M. J.  et al. 2007	17339647				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1	German		CDC GDP info	4547	Hs.195799			J Gerontol A Biol Sci Med Sci    2007    62(2)    202-5	Absence of Relationship Between MTTP Haplotypes and Longevity		157147		CDC	2007	This study, which adopted a more detailed genetic analysis of the MTTP gene in a large case-control study of older people provides reliable evidence against any significant association of the MTTP gene with longevity.											
151647		diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease			MT-TQ				Crispim, D.  et al. 2006	16759180				mitochondrially encoded tRNA glutamine		Brazilian;CaucEuropean		CDC GDP info	4572				Ann Hum Genet    2006    70(Pt 4)    488-95	The European-specific mitochondrial cluster J/T could confer an increased risk of insulin-resistance and type 2 diabetes		590030		CDC	2006	our results indicate the association of the cluster J/T (as suggested by analyses of the m.4216T > C and m.4917A > G variants) with insulin resistance and type 2 diabetes.											
151648	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease			MT-TQ				Huerta, C.  et al. 2007	17174475				mitochondrially encoded tRNA glutamine				CDC GDP info	4572				Neurosci Lett    2007    413(3)    202-5	No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes		590030		CDC	2007												
151649		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss|Syndrome|Genetic Predisposition to Disease			MT-TS1					16406239				mitochondrially encoded tRNA serine 1 (UCN)		Tunisian	Tunisia	CDC GDP info	4574				Biochem Biophys Res Commun    2006    340(4)    1251-1258	Mutational analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in Tunisian patients with nonsyndromic hearing loss		590080		CDC	2006												
151650		deafness	OTHER	OTH	Hearing Loss|Genetic Predisposition to Disease			MT-TS1				Abreu-Silva, R. S.  et al. 2006	16470309				mitochondrially encoded tRNA serine 1 (UCN)		Brazilian;European;Native American		CDC GDP info	4574				Braz J Med Biol Res    2006    39(2)    219-26	Prevalence of the A1555G (12S rRNA) and tRNA Ser(UCN) mitochondrial mutations in hearing-impaired Brazilian patients		590080		CDC	2006												
151651		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	MTUS1	17545582	17702666		Frank, B.  et al. 2007	17301065				Mitochondrial tumor suppressor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001924			CDC GDP info	57509	Hs.7946			Carcinogenesis    2007	Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk				CDC	2007												
151652		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	3	3q29	MUC20	196933519	196946094		Li, G.  et al. 2006	16508246				Mucin 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152673.1			CDC GDP info	200958	Hs.599259			Am J Nephrol    2006    26(1)    43-49	Tandem Repeats Polymorphism of MUC20 Is an Independent Factor for the Progression of Immunoglobulin A Nephropathy				CDC	2006												
151653	N	invitro fertilization	REPRODUCTION	REP	Infertility, Female	3	3q29	MUC4	196959308	197023545		Koscinski, I.  et al. 2006	16807280				Mucin 4, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018406			CDC GDP info	4585	Hs.369646			Hum Reprod    2006	MUC4 gene polymorphism and expression in women with implantation failure		158372		CDC	2006	We conclude that the different-sized MUC4 alleles do not interfere with implantation. The absence of coexpression of MUC4 and the steroid receptors suggests that MUC4 expression is not directly regulated by steroids.											
151654			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	11	11p15	MUC5B	1225766	1228979		Lee, J. K.  et al. 2003	12768436				Mucin 5, subtype B, tracheobronchial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_039877	Japanese;Caucasian;Korean		CDC GDP info	4587	Hs.523395			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		600770		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
151656		lung function	IMMUNE	IMM	Asthma|Respiration Disorders	4	4q13-q21	MUC7	71372524	71383303		Rousseau, K.  et al. 2006	16759176				Mucin 7, salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152291.1	European	Europe	CDC GDP info	4589	Hs.631946			Ann Hum Genet    2006    70(Pt 4)    417-27	MUC7 Haplotype Analysis		158375		CDC	2006												
151657	Y	schizophrenia	PSYCH	PSY		6	6p25.1-p24.3	MUTED	7959213	8009646		Morris, D. W.  et al. 2007	17618940				muted homolog				CDC GDP info	63915	Hs.150837			Biol Psychiatry    2007	Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1)		607289		CDC	2007	Together these data provide evidence for the involvement of the BLOC-1 protein complex in SZ pathogenesis.			DTNBP1		MUTED						
151658		colorectal cancer endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms|Microsatellite Instability	1	1p34.3-p32.1	MUTYH	45567500	45578729		Niessen, R. C.  et al. 2006	16408224				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Caucasian		CDC GDP info	4595	Hs.271353			Hum Genet    2006    119(1-2)    206-11	MUTYH and the mismatch repair system		604933		CDC	2006												
151659	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Zhang, Y.  et al. 2006	16492928				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Caucasian;Polish;Asian		CDC GDP info	4595	Hs.271353			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		604933		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
151660		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Zhang, Z. B.  et al. 2006	16600130				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(3)    134-8	Relationship between genetic polymorphism in hMTH1c.83, hOGG1c.326 and hMYHc.335 and risks of chronic benzene poisoning.		604933		CDC	2006	Polymorphisms of hMTH1 Val83 Met and hOGG1 Ser326Cys may contribute to altered risks of CBP, and potential interaction may exist among polymorphisms of hOGG1 Ser326Cys and hMYH His335Gln.		smoking (tobacco)									
151662		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Disease Susceptibility	1	1p34.3-p32.1	MUTYH	45567500	45578729		Gorgens, H.  et al. 2006	16645203				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			J Mol Diagn    2006    8(2)    178-82	Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH		604933		CDC	2006												
151663	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Tenesa, A.  et al. 2006	16804517				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	Scottish	Scotland	CDC GDP info	4595	Hs.271353			Br J Cancer    2006	Association of MUTYH and colorectal cancer		604933		CDC	2006												
151664		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Figueroa, J. D.  et al. 2007	17203305				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		604933		CDC	2007												
151665		oral cancer	CANCER	CAN		1	1p34.3-p32.1	MUTYH	45567500	45578729		Gorgens, H.  et al. 2007	17207658				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Oral Oncol    2007	Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas		604933		CDC	2007												
151666	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Huang, M.  et al. 2007	17220334				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Cancer Epidemiol Biomarkers Prev    2007    16(1)    84-91	High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility		604933		CDC	2007	we did not find an association between any single BER gene single nucleotide polymorphism and bladder cancer risk.		smoking (tobacco)									
151667		colorectal cancer	CANCER	CAN	Colonic Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Schafmayer, C.  et al. 2007	17417778				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1	German		CDC GDP info	4595	Hs.271353			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		604933		CDC	2007												
151668		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Nielsen, M.  et al. 2007	17489848				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Clin Genet    2007    71(5)    427-33	Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis		604933		CDC	2007												
151669		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Autoimmune Diseases|Genetic Predisposition to Disease	12	12q24	MVK	108495999	108519450		Kone-Paut, I.  et al. 2007	17213252				Mevalonate kinase (mevalonic aciduria)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000431.1			CDC GDP info	4598	Hs.130607			Ann Rheum Dis    2007	Autoinflammatory gene mutations in Behcet's disease		251170		CDC	2007												
151671	Y	severe acute respiratory syndrome	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	21	21q22.3	MX1	41714311	41753008		He, J.  et al. 2006	16824203				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDP info	4599	Hs.517307			BMC Infect Dis    2006    6(1)    106	Association of SARS susceptibility with single nucleic acid polymorphisms of OAS1 and MxA genes		147150		CDC	2006	SNPs in the OAS1 3\-UTR and MxA promoter region appear associated with host susceptibility to SARS in Chinese Han population.											
151672		hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic	21	21q22.3	MX1	41714311	41753008		Wietzke-Braun, P.  et al. 2006	16894313			promoter	Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDP info	4599	Hs.517307			Eur J Gastroenterol Hepatol    2006    18(9)    991-7	Interferon regulatory factor-1 promoter polymorphism and the outcome of hepatitis C virus infection		147150		CDC	2006	Our findings suggest the possibility that the -300AA IRF-1 genotype is associated with outcome in patients with HCV genotype 3 infection. In addition, in HCV genotype-1-infected patients, this genotype appears associated with response to therapy.		interferon									
151673		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis, Relapsing-Remitting	21	21q22.3	MX1	41714311	41753008		Weinstock-Guttman, B.  et al. 2007	17126411				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDP info	4599	Hs.517307			J Neuroimmunol    2007    182(1-2)    236-9	Pharmacogenetics of MXA SNPs in interferon-beta treated multiple sclerosis patients		147150		CDC	2007												
151675		cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	11	11p11.2	MYBPC3	47309526	47330798		Cardim, N.  et al. 2005	16566405				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2	Portuguese		CDC GDP info	4607	Hs.524906			Rev Port Cardiol    2005    24(12)    1463-76	Hypertrophic cardiomyopathy in a Portuguese population		600958		CDC	2005	In a Portuguese population of 45 HCM patients, 5 (11.											
151676		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	11	11p11.2	MYBPC3	47309526	47330798		Morita, H.  et al. 2006	16754800				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2		United States	CDC GDP info	4607	Hs.524906			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		600958		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
151677	Y	kidney transplant	RENAL	REN	Kidney Failure, Chronic	8	8q24.12-q24.13	MYC	128816946	128822855		Yigit, B.  et al. 2006	16797278				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			CDC GDP info	4609	Hs.202453			Transplant Proc    2006    38(5)    1267-1269	Analysis of L-MYC Gene Polymorphism in Patients With Renal Failure Outcome to Renal Transplant		190080		CDC	2006	Our study showed that having an S allele in the L-myc gene may increase the risk of renal failure.											
151678		breast cancer	CANCER	CAN	Breast Neoplasms	8	8q24.12-q24.13	MYC	128816946	128822855		Figueiredo, J. C.  et al. 2007	17567920				V-myc myelocytomatosis viral oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002467.3			CDC GDP info	4609	Hs.202453			BMC Cancer    2007    7(1)    99	Polymorphisms cMyc-N11S and p27-V109G and breast cancer risk and prognosis		190080		CDC	2007	Further work is recommended to understand the potential functional role of these specific non-synonymous amino acid changes and a larger, more comprehensive investigation of genetic variation in these genes (e.g., using a tagSNP approach) in combination with other relevant genes is needed as well as consideration for treatment effects when assessing their po		family history									
151679		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p34.2	MYCL1	40133684	40140274		Spinola, M.  et al. 2006	17145094				homolog 1, lung carcinoma derived (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033081.1	Caucasian;Italian;Norwegian;Asian		CDC GDP info	4610	Hs.437922			Lung Cancer    2006	Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival		164850		CDC	2006												
151680		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	17	17p13.1	MYH1	10336348	10362584		Jenkins, M. A.  et al. 2006	16492921				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963			CDC GDP info	4619	Hs.231581			Cancer Epidemiol Biomarkers Prev    2006    15(2)    312-4	Risk of Colorectal Cancer in Monoallelic and Biallelic Carriers of MYH Mutations		160730		CDC	2006												
151681		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	17	17p13.1	MYH1	10336348	10362584		Zhang, Y.  et al. 2006	16929514				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963			CDC GDP info	4619	Hs.231581			Int J Cancer    2006	Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China		160730		CDC	2006												
151683		colorectal cancer	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	MYH1	10336348	10362584		Balaguer, F.  et al. 2007	17368238				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963		Spain	CDC GDP info	4619	Hs.231581			Clin Gastroenterol Hepatol    2007    5(3)    379-87	Identification of MYH mutation carriers in colorectal cancer		160730		CDC	2007	This study proposes the first set of clinical criteria designed to identify CRC patients with biallelic MYH mutations, and it argues against an increased risk for monoallelic carriers.											
151684		adenomatous polyposis	CANCER	CAN	Adenomatous Polyposis Coli	17	17p13.1	MYH1	10336348	10362584		Sulova, M.  et al. 2007	17524638				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963			CDC GDP info	4619	Hs.231581			Eur J Cancer    2007	Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients		160730		CDC	2007												
151685		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	14	14q12	MYH7	22951786	22974710		Morita, H.  et al. 2006	16754800				Myosin, heavy polypeptide 7, cardiac muscle, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000257.1		United States	CDC GDP info	4625	Hs.278432			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		160760		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
151687	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	3	3q21	MYLK	124813832	125085839		Flores, C.  et al. 2007	17266121				Myosin, light polypeptide kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053025	African American;European		CDC GDP info	4638	Hs.556600			Genet Epidemiol    2007	A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans		600922		CDC	2007												
151688	Y	asthma IgE	IMMUNE	IMM	Sepsis|Asthma|Genetic Predisposition to Disease	3	3q21	MYLK	124813832	125085839		Gao, L.  et al. 2007	17472811				Myosin, light polypeptide kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053025			CDC GDP info	4638	Hs.556600			J Allergy Clin Immunol    2007    119(5)    1111-8	Polymorphisms in the myosin light chain kinase gene that confer risk of severe sepsis are associated with a lower risk of asthma		600922		CDC	2007	MYLK polymorphisms may function as a common genetic factor in clinically distinct diseases involving bronchial smooth muscle contraction and inflammation.											
151689		breast cancer colorectal cancer lung cancer stomach cancer	CANCER	CAN	Neoplasms	20	20q13.31	MYLK2	29870836	29886153		Soung, Y. H.  et al. 2006	16448786				Myosin light chain kinase 2, skeletal muscle	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647635			CDC GDP info	85366	Hs.86092			Pathol Res Pract    2006	Mutational analysis of the kinase domain of MYLK2 gene in common human cancers		606566		CDC	2006												
151690		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11-q12	MYO1D	27843740	28228015		Stone, J. L.  et al. 2007	17376794				Myosin ID	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC146763	Caucasian		CDC GDP info	4642	Hs.658000			Hum Mol Genet    2007	High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17		606539		CDC	2007												
151691	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104			16423886				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Caucasian		CDC GDP info	4650	Hs.123198			Gut    2006	Lack of association of MYO9B genetic variants with coeliac disease in a British cohort		602129		CDC	2006	Genetic variation in MYO9B does not have a major effect on coeliac disease susceptibility in the UK population.											
151692		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104		Amundsen, S. S.  et al. 2006	16720215				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Norwegian	Norway|Sweden	CDC GDP info	4650	Hs.123198			Hum Immunol    2006    67(4-5)    341-5	Association Analysis of MYO9B Gene Polymorphisms with Celiac Disease in a Swedish/Norwegian Cohort		602129		CDC	2006												
151693	N	celiac disease	IMMUNE	IMM	Celiac Disease	19	19p13.1	MYO9B	17047595	17185104		Giordano, M.  et al. 2006	16943798				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Swedish;Italian;Norwegian		CDC GDP info	4650	Hs.123198			Genes Immun    2006    7(7)    606-8	A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population		602129		CDC	2006	MYO9B is not involved in CD susceptibility in the Italian population.											
151694		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	19	19p13.1	MYO9B	17047595	17185104		Amundsen, S. S.  et al. 2006	16948647				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Norwegian		CDC GDP info	4650	Hs.123198			Tissue Antigens    2006    68(3)    249-52	Association analysis of MYO9B gene polymorphisms and inflammatory bowel disease in a Norwegian cohort		602129		CDC	2006												
151695	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104		van Bodegraven, A. A.  et al. 2006	17087940				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Canadian;EuropeanItalian		CDC GDP info	4650	Hs.123198			Gastroenterology    2006    131(6)    1768-74	Genetic variation in myosin IXB is associated with ulcerative colitis		602129		CDC	2006	MYO9B genetic variants predispose to inflammatory bowel disease.											
151696	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104		Nunez, C.  et al. 2006	17176439				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997			CDC GDP info	4650	Hs.123198			Tissue Antigens    2006    68(6)    489-92	No evidence of association of the MYO9B polymorphisms with celiac disease in the Spanish population		602129		CDC	2006												
151698	Y	celiac disease lupus erythematosus rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Celiac Disease|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104		Sanchez, E.  et al. 2007	17584584				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997			CDC GDP info	4650	Hs.123198			Hum Immunol    2007    68(7)    610-5	MYO9B gene polymorphisms are associated with autoimmune diseases in Spanish population		602129		CDC	2007												
151699	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Yao, H. Y.  et al. 2006	16681888				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Taiwan Chinese	Taiwan	CDC GDP info	4653	Hs.436037			Zhonghua Yi Xue Za Zhi    2006    86(8)    554-9	Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients.		601652		CDC	2006	Polymorphisms in the MYOC and OPTN genes are associated with POAG in Chinese people.	Case:142 unrelated POAG patients (94 HTG, 48 NTG); Control:77 unrelated control subjects										
151701	N	glaucoma, primary open-angle	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Funayama, T.  et al. 2006	17122126				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDP info	4653	Hs.436037			Invest Ophthalmol Vis Sci    2006    47(12)    5368-75	SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma		601652		CDC	2006	The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.											
151703	Y	myopia	VISION	VIS	Myopia	1	1q23-q24	MYOC	169871179	169888396		Tang, W. C.  et al. 2007	17438518	rs235858			Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDP info	4653	Hs.436037			Mol Vis    2007    13    534-44	Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population	rs235858	601652		CDC	2007	Linkage and association was shown between the MYOC polymorphisms and high myopia in our family-based association study. The SNP rs235858 at the 3\ flanking region showed the highest degree of confidence for association.											
151704	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Bhattacharjee, A.  et al. 2007	17562996				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Indian		CDC GDP info	4653	Hs.436037			Arch Ophthalmol    2007    125(6)    823-829	Myocilin Variants in Indian Patients With Open-angle Glaucoma		601652		CDC	2007	MYOC mutations account for 2.											
151705	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Kumar, A.  et al. 2007	17563717				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Indian		CDC GDP info	4653	Hs.436037			Mol Vis    2007    13    667-76	Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma		601652		CDC	2007	This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients.											
151706	Y	glaucoma, primary open-angle	VISION	VIS		1	1q23-q24	MYOC	169871179	169888396		Liu, T.  et al. 2007	17605937	MYOC Gln368STOP			Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDP info	4653	Hs.436037			Zhonghua Yan Ke Za Zhi    2007    43(4)    361-6	Meta-analysis on the association of Myocilin Q368X mutation and primary open angle glaucoma.		601652		CDC	2007	MYOC Gln368STOP mutation might be associated with the increased risk of POAG and is one of its risk factors.											
151707	N	glaucoma, primary open-angle	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Lopez-Martinez, F.  et al. 2007	17615537				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1			CDC GDP info	4653	Hs.436037			Mol Vis    2007    13    862-72	Role of MYOC and OPTN sequence variations in Spanish patients with Primary Open-Angle Glaucoma		601652		CDC	2007	Overall, our data show that in Spain a minority of adult-onset high-pressure POAG patients carry heterozygous disease-causing mutations in the MYOC gene and that OPTN is not involved in either OHT or POAG.											
151709		premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	19	19p13.12	NANOS3	13849062	13852317		Qin, Y.  et al. 2007	17418157				Nanos homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001098622	Chinese;Caucasian		CDC GDP info	342977	Hs.127982			Fertil Steril    2007	Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure				CDC	2007												
151710	Y	bipolar disorder	PSYCH	PSY	Bipolar Disorder	18	18p11.22	NAPG	10516030	10540372			16395123				N-ethylmaleimide-sensitive factor attachment protein, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK126942			CDC GDP info	8774	Hs.464622			Psychiatr Genet    2006    16(1)    3-8	Analysis of variations in the NAPG gene on chromosome 18p11 in bipolar disorder				CDC	2006	The results of this study suggest that polymorphisms in the human NAPG gene may represent risk factors for the development of bipolar disorder, but before such a role can be established, the results of this study must be confirmed in additional populations of bipolar disorder patients and controls.											
151711	P		NORMALVARIATION	NV		8	8p23.1-p21.3	NAT1	18111894	18125100		Hamajima, N.  et al. 2002	12718576				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Japanese;Chinese;Caucasian;Korean		CDC GDP info	9	Hs.591847			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		108345		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
151712	P		CANCER	CAN	Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Yoshimura, K.  et al. 2003	14634838				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		108345		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
151713		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100			16459354				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Moscow		CDC GDP info	9	Hs.591847			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		108345		CDC	2006												
151714	N	colorectal cancer	CANCER	CAN		8	8p23.1-p21.3	NAT1	18111894	18125100		Chen, K.  et al. 2005	16471212				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		108345		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
151715		limb deficiency defects	DEVELOPMENTAL	DEV	Limb Deformities, Congenital	8	8p23.1-p21.3	NAT1	18111894	18125100		Carmichael, S. L.  et al. 2006	16906563				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			Am J Med Genet A    2006	Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake		108345		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
151718	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Yeh, C. C.  et al. 2006	17191090				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		108345		CDC	2006												
151719		lung cancer	CANCER	CAN	Lung Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Gemignani, F.  et al. 2007	17259654				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			Carcinogenesis    2007	Development of lung cancer before the age of 50		108345		CDC	2007												
151720	N	colorectal cancer Crohn's disease ulcerative colitis	CANCER	CAN	Colorectal Neoplasms|Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Mahid, S. S.  et al. 2007	17537267				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Caucasian		CDC GDP info	9	Hs.591847			BMC Med Genet    2007    8(1)    28	Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma		108345		CDC	2007	This study did not demonstrate an association between NAT1 and NAT2 polymorphisms and IBD or sporadic CRC, although power calculations indicate this study had sufficient sample size to detect differences in frequency as small as 0.											
151721	P		NORMALVARIATION	NV		8	8p22	NAT2	18293034	18303003		Hamajima, N.  et al. 2002	12718576				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese;Chinese;Caucasian;Korean		CDC GDP info	10	Hs.2			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		243400		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
151723	P		CANCER	CAN	Neoplasms	8	8p22	NAT2	18293034	18303003		Yoshimura, K.  et al. 2003	14634838				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		243400		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
151724		motor neuron disease	NEUROLOGICAL	NEUR	Motor Neuron Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003			16459354				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Moscow		CDC GDP info	10	Hs.2			Zh Nevrol Psikhiatr Im S S Korsakova    2006    106(1)    4-13	Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian population		243400		CDC	2006												
151726		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	8	8p22	NAT2	18293034	18303003		Kellen, E.  et al. 2007	16504378				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Cancer Lett    2007    245(1-2)    51-60	Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk		243400		CDC	2007			aromatic amines smoking (tobacco)									
151727	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	8	8p22	NAT2	18293034	18303003		Bendjemana, K.  et al. 2006	16567317				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Tunisian		CDC GDP info	10	Hs.2			Bull Cancer    2006    93(3)    297-302	Genetic polymorphism of gluthation-S transferases and N-acetyl transferases 2 and nasopharyngeal carcinoma		243400		CDC	2006	the increase of nasopharyngeal carcinoma risk in Tunisia seems to be associated with GSTM10/0 and NAT2*6/6 genotype.											
151728	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Hong, S. H.  et al. 2006	16615268				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese;Chinese;Korean	Far East	CDC GDP info	10	Hs.2			J Prev Med Pub Health    2006    39(2)    135-40	Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and N-acetyltransferase 2 polymorphisms and the risk of gastric cancer		243400		CDC	2006	These results suggest that the hometown and socio-economic status are important environmental factors for gastric carcinogenesis, and NAT2 polymorphic types could be associated with familial gastric carcinoma.		alcohol family history Helicobacter pylori smoking (tobacco)									
151729		malignant mesothelioma	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Neri, M.  et al. 2006	16697254				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Finnish;Italian		CDC GDP info	10	Hs.2			Int J Hyg Environ Health    2006    209(4)    393-8	Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk		243400		CDC	2006												
151731	N	fetal loss, late	REPRODUCTION	REP		8	8p22	NAT2	18293034	18303003		Bech, B. H.  et al. 2006	16782969				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Danish		CDC GDP info	10	Hs.2			Int J Epidemiol    2006	Stillbirth and slow metabolizers of caffeine		243400		CDC	2006	We found no link between any single genotype and the risk of stillbirth.											
151732		limb deficiency defects	DEVELOPMENTAL	DEV	Limb Deformities, Congenital	8	8p22	NAT2	18293034	18303003		Carmichael, S. L.  et al. 2006	16906563				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Am J Med Genet A    2006	Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake		243400		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
151733		colon polyps	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Goode, E. L.  et al. 2006	16926176				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		CDC GDP info	10	Hs.2			Carcinogenesis    2006	Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps		243400		CDC	2006			meat smoking (tobacco)									
151734	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Moslehi, R.  et al. 2006	16981843				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Pharmacogenomics    2006    7(6)    819-829	Cigarette smoking, N-acetyltransferase genes and the risk of advanced colorectal adenoma.		243400		CDC	2006	Our study indicated that NAT2 gene variants associated with a slow acetylator phenotype were more susceptible to the effects of tobacco smoking with respect to adenoma risk, providing leads for disease prevention.		smoking (tobacco)									
151737		breast cancer	CANCER	CAN	Breast Neoplasms	8	8p22	NAT2	18293034	18303003		Sillanpaa, P.  et al. 2006	17063266				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian;Finnish		CDC GDP info	10	Hs.2			Breast Cancer Res Treat    2006	CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population		243400		CDC	2006			smoking (tobacco)									
151738		cytogenetic studies	OTHER	OTH		8	8p22	NAT2	18293034	18303003		Laczmanska, I.  et al. 2006	17078101				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		243400		CDC	2006												
151739	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p22	NAT2	18293034	18303003		Yeh, C. C.  et al. 2006	17191090				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		243400		CDC	2006												
151741		lung cancer	CANCER	CAN	Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Gemignani, F.  et al. 2007	17259654				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Carcinogenesis    2007	Development of lung cancer before the age of 50		243400		CDC	2007												
151742	N	Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Bialecka, M.  et al. 2007	17270484				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Parkinsonism Relat Disord    2007	Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson(')s disease		243400		CDC	2007												
151743		chemical-related sensitivity	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity	8	8p22	NAT2	18293034	18303003		Schnakenberg, E.  et al. 2007	17291352				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Environ Health    2007    6(1)    6	A cross-sectional study of self-reported chemical-related sensitivity is associated with gene variants of drug metabolizing enzymes		243400		CDC	2007	The results from our study population show that individuals being slow acetylators and/or harbouring a homozygous GSTM1 and/or GSTT1 deletion reported chemical-related hypersensitivity more frequently.											
151744		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Dick, F.  et al. 2007	17449559				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	European		CDC GDP info	10	Hs.2			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		243400		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
151745		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	8	8p22	NAT2	18293034	18303003		Osawa, Y.  et al. 2007	17477782				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Asian Pac J Cancer Prev    2007    8(1)    103-8	NAT2 and CYP1A2 Polymorphisms and Lung Cancer Risk in Relation to Smoking Status		243400		CDC	2007			smoking (tobacco)									
151746		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage	8	8p22	NAT2	18293034	18303003		Kuo, H. W.  et al. 2007	17512776				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Mutat Res    2007	Urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) and genetic polymorphisms in breast cancer patients		243400		CDC	2007	it was found that oxygen radical generation occurred within carcinoma cells, but the role of polymorphism of specific genes in the development of breast cancer should be evaluated.											
151748	N	colorectal cancer Crohn's disease ulcerative colitis	CANCER	CAN	Colorectal Neoplasms|Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Mahid, S. S.  et al. 2007	17537267				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian		CDC GDP info	10	Hs.2			BMC Med Genet    2007    8(1)    28	Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma		243400		CDC	2007	This study did not demonstrate an association between NAT1 and NAT2 polymorphisms and IBD or sporadic CRC, although power calculations indicate this study had sufficient sample size to detect differences in frequency as small as 0.											
151750	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	8	8q21	NBN	91014739	91066075		Damaraju, S.  et al. 2006	16638864				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		602667		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
151751	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Lu, J.  et al. 2006	16714331				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	non-Hispanic		CDC GDP info	4683	Hs.492208			Carcinogenesis    2006	Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non-Hispanic white women <= 55 years		602667		CDC	2006												
151752		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Shen, M.  et al. 2006	16728435				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		602667		CDC	2006												
151753		breast cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Steffen, J.  et al. 2006	16770759				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4		Poland	CDC GDP info	4683	Hs.492208			Int J Cancer    2006    119(2)    472-5	Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland		602667		CDC	2006												
151754		stomach cancer	CANCER	CAN	Lymphoma|Lymphoma, Non-Hodgkin|Gastrointestinal Neoplasms	8	8q21	NBN	91014739	91066075		Steffen, J.  et al. 2006	16998789				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Int J Cancer    2006	Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation		602667		CDC	2006												
151755		lung cancer	CANCER	CAN	Lung Neoplasms	8	8q21	NBN	91014739	91066075		Ryk, C.  et al. 2006	17034901				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Lung Cancer    2006	Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers		602667		CDC	2006			smoking (tobacco)									
151756		cytogenetic studies	OTHER	OTH		8	8q21	NBN	91014739	91066075		Laczmanska, I.  et al. 2006	17078101				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		602667		CDC	2006												
151757		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	8	8q21	NBN	91014739	91066075		Rollinson, S.  et al. 2006	17169801				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Leuk Lymphoma    2006    47(12)    2567-83	Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma		602667		CDC	2006												
151758	N	breast cancer	CANCER	CAN		8	8q21	NBN	91014739	91066075		Jakubowska, A.  et al. 2007	17333333				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	Polish		CDC GDP info	4683	Hs.492208			Breast Cancer Res Treat    2007	BARD1 and breast cancer in Poland		602667		CDC	2007	There was no clear association between the presence of the BARD1 Cys557Ser allele and breast cancer in Poland.		family history									
151759	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	8	8q21	NBN	91014739	91066075		Guillem, V. M.  et al. 2007	17476281				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		602667		CDC	2007												
151760		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Meyer, P.  et al. 2007	17496786				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4	German		CDC GDP info	4683	Hs.492208			Melanoma Res    2007    17(2)    109-116	Molecular genetic analysis of NBS1 in German melanoma patients		602667		CDC	2007												
151761		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8q21	NBN	91014739	91066075		Figueroa, J. D.  et al. 2007	17557904				nibrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002485.4			CDC GDP info	4683	Hs.492208			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		602667		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
151763		bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11q23.1	NCAM1	112337204	112654368		Atz, M. E.  et al. 2007	17413444				Neural cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000615.4			CDC GDP info	4684	Hs.503878			Psychiatr Genet    2007    17(2)    55-67	NCAM1 association study of bipolar disorder and schizophrenia		116930		CDC	2007	Diverse NCAM1 transcripts were found with possibly different functions.											
151764		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	7	7q11.23	NCF1	73826244	73841595		Lee, P. L.  et al. 2006	16608528				Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC002816		California	CDC GDP info	653361	Hs.647047			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		608512		CDC	2006												
151765		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	1	1q25	NCF2	181791319	181826634		Lee, P. L.  et al. 2006	16608528				Neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209647		California	CDC GDP info	4688	Hs.587558			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		608515		CDC	2006												
151766		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	22	22q13.1	NCF4	35586990	35604005		Lee, P. L.  et al. 2006	16608528				Neutrophil cytosolic factor 4, 40kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK056804		California	CDC GDP info	4689	Hs.474781			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		601488		CDC	2006												
151768	Y	bone mass IGF-I levels sex steroid hormones	METABOLIC	MET		20	20q12	NCOA3	45564063	45719021		Sheu, Y. T.  et al. 2006	16263829				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1	Caucasian		CDC GDP info	8202	Hs.592142			J Clin Endocrinol Metab    2006    91(1)    307-12	Nuclear receptor coactivator-3 alleles are associated with serum bioavailable testosterone, insulin-like growth factor-1, and vertebral bone mass in men		601937		CDC	2006	Allelic variation at the NCOA3 locus may contribute to the genetic control of androgenic hormone and IGF levels and vertebral bone mass among older men.											
151769	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	20	20q12	NCOA3	45564063	45719021		Spurdle, A. B.  et al. 2006	16434590				Nuclear receptor coactivator 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181659.1			CDC GDP info	8202	Hs.592142			Cancer Epidemiol Biomarkers Prev    2006    15(1)    76-9	The AIB1 Polyglutamine Repeat Does Not Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers		601937		CDC	2006	the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.											
151770	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q22.31-q22.32	NCOA7	126143999	126293950		Liu, Y.  et al. 2007	17079118				Nuclear receptor coactivator 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL834442			CDC GDP info	135112	Hs.171426			Schizophr Res    2007    89(1-3)    360-1	No association between the Nuclear Receptor Coactivator 7 gene and schizophrenia in the Chinese Han population		609752		CDC	2007												
151772		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	6	6p21.3	NCR3	31664650	31668741		Delahaye, N. F.  et al. 2006	17208487				Natural cytotoxicity triggering receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM917537			CDC GDP info	259197	Hs.509513			Microbes Infect    2006	Association analyses of NCR3 polymorphisms with P. falciparum mild malaria				CDC	2006												
151773	P	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22-q23	NCSTN	158579686	158595366			16423463				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2	Sardinian		CDC GDP info	23385	Hs.517249			Neurosci Lett    2006	Genetic study of Sardinian patients with Alzheimer's disease		605254		CDC	2006	these results show the existence of Sardinian genetic peculiarities, essential in studies regarding genetically inherited and multifactorial disorders, as AD.											
151774		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q22-q23	NCSTN	158579686	158595366		Bertram, L.  et al. 2007	17192785				Nicastrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015331.2			CDC GDP info	23385	Hs.517249			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		605254		CDC	2007	odds ratios (ranging from 1.											
151775	Y	schizophrenia	PSYCH	PSY	Schizophrenia	18	18p11.31-p11.2	NDUFV2	9092724	9124336		Washizuka, S.  et al. 2006	16508936				NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021074.1			CDC GDP info	4729	Hs.464572			Am J Med Genet B Neuropsychiatr Genet    2006	Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population		600532		CDC	2006												
151777	Y	renin activity salt sensitivity	RENAL	REN		18	18q21	NEDD4L	53862777	54216369		Dahlberg, J.  et al. 2007	17487281				Neural precursor cell expressed, developmentally down-regulated 4-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015277.2			CDC GDP info	23327	Hs.185677			PLoS ONE    2007    2    e432	Polymorphism in NEDD4L Is Associated with Increased Salt Sensitivity, Reduced Levels of P-renin and Increased Levels of Nt-proANP		606384		CDC	2007	Genetic NEDD4L variation seems to affect salt sensitivity and P-renin in normotensive subjects, suggesting that genotyping of NEDD4L may be clinically useful in order to identify subjects who benefit from dietary salt restriction in the prevention of hypertension.											
151778	Y	psychoses schizophrenia	PSYCH	PSY	Acute Disease|Schizophrenia	8		NEFM	24827211	24832511		Strous, R. D.  et al. 2006	16734940				Neurofilament, medium polypeptide 150kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005382.1			CDC GDP info	4741	Hs.458657			Int J Neuropsychopharmacol    2006        1-13	Association of the dopamine receptor interacting protein gene, NEF3 , with early response to antipsychotic medication		162250		CDC	2006			antipsychotic drug risperidone									
151779	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	10	10p15	NET1	5444517	5490426		Szoke, A.  et al. 2006	16741933				Neuroepithelial cell transforming gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005863.2			CDC GDP info	10276	Hs.25155			Am J Med Genet B Neuropsychiatr Genet    2006	Lack of influence of COMT and NET genes variants on executive functions in schizophrenic and bipolar patients, their first-degree relatives and controls		606450		CDC	2006												
151781	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Liu, L.  et al. 2006	16773428	NeuroD1-Ala45Thr			Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			CDC GDP info	4760	Hs.72981			Mol Cell Biochem    2006	Ala45Thr variation in neuroD1 gene is associated with early-onset type 2 diabetes with or without diabetic pedigree in Chinese		601724		CDC	2006	Our results suggest that 1) the NeuroD1-Ala45Thr variation may itself have an important role in susceptibility to or be in disequilibrium with early-onset T2DM in Chinese; 2) the Ala45Thr may affect the onset pattern of T2DM, i.e., early-onset but not late-onset T2DM in Chinese; and 3) onset-age stratified analysis may be useful to determine the association of NeuroD1-Ala45Thr variation with susceptibility to genetic heterogeneous T2DM in Chinese.		family history									
151782		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Yokoi, N.  et al. 2006	16873704				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Japanese;European		CDC GDP info	4760	Hs.72981			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		601724		CDC	2006												
151783	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q32	NEUROD1	182249438	182253626		Boraska, V.  et al. 2006	16909454				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			CDC GDP info	4760	Hs.72981			Croat Med J    2006    47(4)    571-578	NeuroD1 Gene and Interleukin-18 Gene Polymorphisms in Type 1 Diabetes in Dalmatian Population of Southern Croatia		601724		CDC	2006												
151784		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Bonnycastle, L. L.  et al. 2006	16936201				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1	Finnish		CDC GDP info	4760	Hs.72981			Diabetes    2006    55(9)    2534-40	Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns		601724		CDC	2006												
151785	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q32	NEUROD1	182249438	182253626		Willer, C. J.  et al. 2007	17192490				Neurogenic differentiation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002500.1			CDC GDP info	4760	Hs.72981			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		601724		CDC	2007												
151786	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	NEUROD2	35013546	35017701		Benusiglio, P. R.  et al. 2006	17117180				Neurogenic differentiation 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006160.3			CDC GDP info	4761	Hs.322431			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		601725		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
151788		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q21.3	NEUROG3	71001796	71003128		Yokoi, N.  et al. 2006	16873704				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Japanese;European		CDC GDP info	50674	Hs.532682			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		604882		CDC	2006												
151790		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	17	17q11.2	NF1	26446120	26728821		Korpershoek, E.  et al. 2006	17102080				Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000267.1			CDC GDP info	4763	Hs.567266			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		162200		CDC	2006												
151791		vestibular schwannoma	NEUROLOGICAL	NEUR	Neuroma, Acoustic|Neurofibromatosis 2	22	22q12.2	NF2	28329564	28424585		Evans, D.  et al. 2007	17470137				Neurofibromin 2 (bilateral acoustic neuroma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000268.2			CDC GDP info	4771	Hs.187898			Clin Genet    2007    71(4)    354-358	Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?		607379		CDC	2007												
151792		heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects, Ventricular|Tricuspid Atresia|Pulmonary Valve Stenosis|Genetic Predisposition to Disease	18		NFATC1	75256759	75390311		Yehya, A.  et al. 2006	17110989			Intron	Nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006162.3			CDC GDP info	4772	Hs.534074			Genome    2006    49(9)    1092-8	Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease		600489		CDC	2006												
151793		gastritis	OTHER	OTH	Helicobacter Infections|Gastritis|Chronic Disease	2	2q31	NFE2L2	177803282	177965665		Arisawa, T.  et al. 2007	17143558			promoter	Nuclear factor (erythroid-derived 2)-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006164			CDC GDP info	4780	Hs.155396			Int J Mol Med    2007    19(1)    143-8	The relationship between Helicobacter pylori infection and promoter polymorphism of the Nrf2 gene in chronic gastritis		600492		CDC	2007			Helicobacter pylori									
151794		lung injury, acute	OTHER	OTH	Respiratory Distress Syndrome, Adult|Genetic Predisposition to Disease	2	2q31	NFE2L2	177803282	177965665		Marzec, J. M.  et al. 2007	17384144				Nuclear factor (erythroid-derived 2)-like 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006164			CDC GDP info	4780	Hs.155396			FASEB J    2007	Functional polymorphisms in the transcription factor NRF2 in humans increase the risk of acute lung injury		600492		CDC	2007												
151796	N	giant cell arteritis	CARDIOVASCULAR	CARD	Polymyalgia Rheumatica|Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Martin, J.  et al. 2006	16465659			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Spanish;Spanish;Caucasian		CDC GDP info	4790	Hs.431926			J Rheumatol    2006    33(2)    285-8	Lack of Association of a Functional -94ins/delATTG NFKB1 Promoter Polymorphism with Susceptibility and Clinical Expression of Biopsy-Proven Giant Cell Arteritis in Northwest Spain		164011		CDC	2006	Our results do not support a role for -94ins/delATTG NFKB1 promoter polymorphism in susceptibility and clinical expression of GCA in a Northwestern Spanish population.											
151797		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Martinez, A.  et al. 2006	16476711				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Spanish;Spanish;Japanese;Caucasian		CDC GDP info	4790	Hs.431926			Ann Rheum Dis    2006	Epistatic interaction between FCRL3 and NFKB1 genes in Spanish Rheumatoid Arthritis patients		164011		CDC	2006	The FCRL3 polymorphisms associated with rheumatoid arthritis in a Japanese population are not associated per se with rheumatoid arthritis in a Spanish population.											
151798		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507			16519819				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		164011		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
151799	N	celiac disease	IMMUNE	IMM	Celiac Disease|Disease Susceptibility	4	4q24	NFKB1	103641517	103757507		Rueda, B.  et al. 2006	16635909			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Scand J Gastroenterol    2006    41(4)    420-3	Functional polymorphism of the NFKB1 gene promoter is not relevant in predisposition to celiac disease		164011		CDC	2006	From these results, it could be suggested that the -94ins/delATTG NFKB1 polymorphism does not play a major role in CD susceptibility.											
151800	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	4	4q24	NFKB1	103641517	103757507		Glas, J.  et al. 2006	16804398			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	German		CDC GDP info	4790	Hs.431926			Inflamm Bowel Dis    2006    12(7)    606-611	Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes		164011		CDC	2006	The present study could not confirm the reported association of the -94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.											
151801	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	4	4q24	NFKB1	103641517	103757507		Kozlowski, P.  et al. 2006	16907704				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		164011		CDC	2006												
151802	N	colorectal cancer kidney cancer	CANCER	CAN	Leukemia, B-cell, Chronic|Carcinoma|Carcinoma, Renal Cell|Colorectal Neoplasms|Kidney Neoplasms|Disease Progression|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Riemann, K.  et al. 2006	17047486			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Pharmacogenet Genomics    2006    16(11)    783-788	No association of the NFKB1 insertion/deletion promoter polymorphism with survival in colorectal and renal cell carcinoma as well as disease progression in B-cell chronic lymphocytic leukemia		164011		CDC	2006	These results suggest that the NFKB1 promoter polymorphism has no effect on risk and course of disease in the three cancer entities that were analyzed.											
151804		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Katarina, K.  et al. 2007	17318773				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Exp Clin Endocrinol Diabetes    2007    115(2)    124-9	HLA, NFKB1 and NFKBIA Gene Polymorphism Profile in Autoimmune Diabetes Mellitus Patients		164011		CDC	2007												
151805	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Bu, H.  et al. 2007	17492467				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			J Cancer Res Clin Oncol    2007	Importance of polymorphisms in NF-kappaB1 and NF-kappaBIalpha genes for melanoma risk, clinicopathological features and tumor progression in Swedish melanoma patients		164011		CDC	2007	NF-kappaB1 and NF-kappaBIalpha genes might be susceptible genes for melanoma risk and functional polymorphisms of these genes might be biological predictors for melanoma progression.											
151806		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		De Jager, P. L.  et al. 2007	17538633				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Genes Immun    2007	The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases		164011		CDC	2007												
151807	N	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Latiano, A.  et al. 2007	17600378				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2			CDC GDP info	4790	Hs.431926			Inflamm Bowel Dis    2007	Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease		164011		CDC	2007	No significant difference for the PTPN22 and NFkB1 variants was found.											
151808		multiple myeloma	CANCER	CAN	Multiple Myeloma	14	14q13	NFKBIA	34940467	34943695		Spink, C. F.  et al. 2007	16540234				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Cancer Lett    2007    246(1-2)    92-9	Haplotypic structure across the I kappa B alpha gene (NFKBIA) and association with multiple myeloma		164008		CDC	2007												
151810		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Lin, C. H.  et al. 2007	17284228			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Int J Immunogenet    2007    34(1)    51-4	IkappaBalpha promoter polymorphisms in patients with rheumatoid arthritis		164008		CDC	2007												
151811		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Katarina, K.  et al. 2007	17318773				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Exp Clin Endocrinol Diabetes    2007    115(2)    124-9	HLA, NFKB1 and NFKBIA Gene Polymorphism Profile in Autoimmune Diabetes Mellitus Patients		164008		CDC	2007												
151812		Crohn's disease	IMMUNE	IMM		14	14q13	NFKBIA	34940467	34943695		Leshinsky-Silver, E.  et al. 2007	17333217				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1	German;Israeli		CDC GDP info	4792	Hs.81328			Int J Colorectal Dis    2007	Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort		164008		CDC	2007	The contribution of population diversity to susceptibility genes for CD plays an important role in disease-associated variants and is important for better understanding of the pathologic mechanisms of the polymorphism.											
151814	Y	pneumococcal empyema pneumonia	INFECTION	INF	Pneumococcal Infections|Empyema, Pleural|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Chapman, S. J.  et al. 2007	17463416				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Am J Respir Crit Care Med    2007	I{kappa}B Genetic Polymorphisms and Invasive Pneumococcal Disease		164008		CDC	2007	NFKBIA polymorphisms associate with susceptibility to IPD.											
151815	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Bu, H.  et al. 2007	17492467				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			J Cancer Res Clin Oncol    2007	Importance of polymorphisms in NF-kappaB1 and NF-kappaBIalpha genes for melanoma risk, clinicopathological features and tumor progression in Swedish melanoma patients		164008		CDC	2007	NF-kappaB1 and NF-kappaBIalpha genes might be susceptible genes for melanoma risk and functional polymorphisms of these genes might be biological predictors for melanoma progression.											
151817	N	pneumococcal empyema pneumonia	INFECTION	INF	Pneumococcal Infections|Empyema, Pleural|Genetic Predisposition to Disease	19	19q13.1	NFKBIB	44082454	44091374		Chapman, S. J.  et al. 2007	17463416				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001716			CDC GDP info	4793	Hs.9731			Am J Respir Crit Care Med    2007	I{kappa}B Genetic Polymorphisms and Invasive Pneumococcal Disease		604495		CDC	2007	NFKBIA polymorphisms associate with susceptibility to IPD.											
151818	N	pneumococcal empyema pneumonia	INFECTION	INF	Pneumococcal Infections|Empyema, Pleural|Genetic Predisposition to Disease	6	6p21.1	NFKBIE	44333880	44341503		Chapman, S. J.  et al. 2007	17463416				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004556			CDC GDP info	4794	Hs.458276			Am J Respir Crit Care Med    2007	I{kappa}B Genetic Polymorphisms and Invasive Pneumococcal Disease				CDC	2007	NFKBIA polymorphisms associate with susceptibility to IPD.											
151819		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Gomez, L. M.  et al. 2006	16634865				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDP info	4795	Hs.2764			Tissue Antigens    2006    67(4)    290-6	Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis		601022		CDC	2006												
151821		rheumatoid arthritis Takayasu's arteritis	IMMUNE	IMM	Arthritis, Rheumatoid|Takayasu Arteritis|Takayasu Arteritis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Shibata, H.  et al. 2006	16720219			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDP info	4795	Hs.2764			Hum Immunol    2006    67(4-5)    363-73	Direct Determination of Single Nucleotide Polymorphism Haplotype of NFKBIL1 Promoter Polymorphism by DNA Conformation Analysis and Its Application to Association Study of Chronic Inflammatory Diseases		601022		CDC	2006												
151822	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	6	6p21.3	NFKBIL1	31623350	31634585		Glas, J.  et al. 2006	16804398			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	German		CDC GDP info	4795	Hs.2764			Inflamm Bowel Dis    2006    12(7)    606-611	Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes		601022		CDC	2006	The present study could not confirm the reported association of the -94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.											
151823	N	pancreatitis, autoimmune	IMMUNE	IMM	Pancreatitis|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Ota, M.  et al. 2006	17119950				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDP info	4795	Hs.2764			Immunogenetics    2006	Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis		601022		CDC	2006												
151824	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Koch, W.  et al. 2007	17517687				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2	Japanese;European		CDC GDP info	4795	Hs.2764			Hum Mol Genet    2007	Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans		601022		CDC	2007												
151825		Chagas cardiomyopathy	INFECTION	INF	Chagas Cardiomyopathy|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Ramasawmy, R.  et al. 2007	17544510			promoter	Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDP info	4795	Hs.2764			Mol Immunol    2007	Variants in the promoter region of IKBL/NFKBIL1 gene may mark susceptibility to the development of chronic Chagas' cardiomyopathy among Trypanosoma cruzi-infected individuals		601022		CDC	2007												
151827			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	17	17q21-q22	NGFR	44927665	44947360		Lee, J. K.  et al. 2003	12768436				Nerve growth factor receptor (TNFR superfamily, member 16)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002507.1	Japanese;Caucasian;Korean		CDC GDP info	4804	Hs.415768			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		162010		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
151828	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	15	15q11.2	NIPA1	20594719	20638284		Deluca, G. C.  et al. 2007	17420921				Non imprinted in Prader-Willi/Angelman syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144599			CDC GDP info	123606	Hs.511797			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		608145		CDC	2007												
151829		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20pter-q11.23	NKX2-2	21439651	21442664		Yokoi, N.  et al. 2006	16873704				NK2 homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002509	Japanese;European		CDC GDP info	4821	Hs.516922			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects				CDC	2006												
151830	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q24.2	NKX2-3	101282699	101286270		Parkes, M.  et al. 2007	17554261				NK2 transcription factor related, locus 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145285			CDC GDP info	159296	Hs.243272			Nat Genet    2007	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility				CDC	2007												
151831		prostatic hyperplasia	OTHER	OTH		8	8p21	NKX3-1	23592172	23596395		Rodriguez Ortner, E.  et al. 2006	16442598				NK3 transcription factor related, locus 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006167.2			CDC GDP info	4824	Hs.55999			Urology    2006	Effect of Homeodomain Protein NKX3.1 R52C Polymorphism On Prostate Gland Size		602041		CDC	2006	The NKX3.											
151832		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q21.2-q22	NKX6-1	85633459	85638411		Yokoi, N.  et al. 2006	16873704				NK6 homeobox 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BU557077	Japanese;European		CDC GDP info	4825	Hs.546270			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects				CDC	2006												
151833		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	2	2p22-p21	NLRC4	32303021	32344305		Macaluso, F.  et al. 2007	17620097		tttt		NLR family, CARD domain containing 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF376061			CDC GDP info	58484	Hs.574741			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis				CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151835		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	19	19q13.41	NLRP12	58988666	59019405		Macaluso, F.  et al. 2007	17620097				NLR family, pyrin domain containing 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY154467			CDC GDP info	91662	Hs.631573			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis				CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151836	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q44	NLRP3	245646097	245679029		Omi, T.  et al. 2006	16868559			Intron	NLR family, pyrin domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004895			CDC GDP info	114548	Hs.159483			Eur J Hum Genet    2006    14(12)    1295-305	An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension				CDC	2006												
151837		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Autoimmune Diseases|Genetic Predisposition to Disease	1	1q44	NLRP3	245646097	245679029		Kone-Paut, I.  et al. 2007	17213252				NLR family, pyrin domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004895			CDC GDP info	114548	Hs.159483			Ann Rheum Dis    2007	Autoinflammatory gene mutations in Behcet's disease				CDC	2007												
151839		body mass	METABOLIC	MET	Obesity	15	15q22-qter	NMB	82999363	83002806		Bouchard, L.  et al. 2007	17299381				Neuromedin B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021077.3			CDC GDP info	4828	Hs.386470			Int J Obes (Lond)    2007	Contribution of several candidate gene polymorphisms in the determination of adiposity changes		162340		CDC	2007	This study suggests that models including genetic information from several candidate gene polymorphisms can significantly contribute to the changes in adiposity over time, that different genes may act at different ages and that genetic information could be useful for the identification of individuals at high risk for gaining body fat over time.											
151840	Y	obesity	METABOLIC	MET	Obesity|Overweight	4	4q12	NMU	56156154	56197222		Hainerova, I.  et al. 2006	16984985				Neuromedin U	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF034907	Danish		CDC GDP info	10874	Hs.418367			J Clin Endocrinol Metab    2006	Association between Neuromedin U gene variants and overweight and obesity				CDC	2006	Amino acid variants in NMU associate with overweight and obesity, suggesting that NMU is involved in energy regulation in humans.											
151841		homocysteine	METABOLIC	MET		11	11q23.1	NNMT	113633762	113688448		Bathum, L.  et al. 2007	17412799				Nicotinamide N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097984			CDC GDP info	4837	Hs.503911			Clin Chem    2007	Genetic and Environmental Influences on Plasma Homocysteine		600008		CDC	2007	Homocysteine concentrations have a high heritability that decreases with age.											
151842	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Ozen, S. C.  et al. 2006	16741608				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969	Turkish	Turkey	CDC GDP info	10392	Hs.405153			J Gastroenterol    2006    41(4)    304-310	NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease		605980		CDC	2006	These findings suggest that the polymorphisms observed in the NOD2/CARD15, NOD1/CARD4, and ICAM-1 genes are not genetic susceptibility factors for Crohn\s disease or ulcerative colitis in Turkey.											
151844		asthma hay fever IgE	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Eder, W.  et al. 2006	16918516				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Allergy    2006    61(9)    1117-24	Association between exposure to farming, allergies and genetic variation in CARD4/NOD1		605980		CDC	2006	Polymorphisms in CARD4 significantly modify the protective effect of exposure to a farming environment.		farming									
151845		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Tanabe, T.  et al. 2006	16935475				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Biochim Biophys Acta    2006	Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes		605980		CDC	2006												
151846	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Tremelling, M.  et al. 2006	17012967				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969		Great Britain	CDC GDP info	10392	Hs.405153			Inflamm Bowel Dis    2006    12(10)    967-971	Complex Insertion/Deletion Polymorphism in NOD1 (CARD4) is Not Associated with Inflammatory Bowel Disease Susceptibility in East Anglia Panel		605980		CDC	2006	There was no overall evidence of association between IBD and the reported NOD1 susceptibility variant ND1 + 32656 in our panel. The discrepancy with the earlier report may reflect a smaller effect size than previously predicted, a false-positive result in the index study, or population heterogeneity.											
151847	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		McGovern, D. P.  et al. 2006	17030188				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Gastroenterology    2006    131(4)    1190-6	TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease		605980		CDC	2006	We have shown an association between a likely functional polymorphism in TUCAN and CD.		smoking (tobacco)									
151848		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Karlsen, T. H.  et al. 2006	17100974				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969	European;Scandinavian	Scandinavia	CDC GDP info	10392	Hs.405153			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		605980		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
151849	N	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Van Limbergen, J.  et al. 2007	17285593				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969	Scottish		CDC GDP info	10392	Hs.405153			Inflamm Bowel Dis    2007	Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe		605980		CDC	2007												
151850	Y	duodenal ulcer gastritis	INFECTION	INF	Helicobacter Infections|Gastritis|Duodenal Ulcer|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Hofner, P.  et al. 2007	17309748				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Helicobacter    2007    12(2)    124-31	Genetic Polymorphisms of NOD1 and IL-8, but not Polymorphisms of TLR4 Genes, Are Associated with Helicobacter pylori-Induced Duodenal Ulcer and Gastritis		605980		CDC	2007	E266K CARD4/NOD1, but not the TLR4 gene polymorphism increases the risk of peptic ulceration in H. pylori-positive patients. The -251 IL-8 polymorphism was significantly associated with either gastritis or DU in H. pylori-infected subjects. Host factors including intracellular pathogen receptors and IL-8 production play an important role in H. pylori-induced											
151851		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Henckaerts, L. C.  et al. 2007	17595233				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		605980		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
151852		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		Van Limbergen, J.  et al. 2007	17613538				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969	Scottish		CDC GDP info	10392	Hs.405153			Hum Mol Genet    2007	Investigation of NOD1/CARD4 variation in Inflammatory Bowel Disease using a haplotype-tagging strategy		605980		CDC	2007												
151853		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	7	7p15-p14	NOD1	30430674	30484790		Macaluso, F.  et al. 2007	17620097				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969			CDC GDP info	10392	Hs.405153			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis		605980		CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151856		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Gazouli, M.  et al. 2005	16437728				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Greek		CDC GDP info	64127	Hs.135201			World J Gastroenterol    2005    11(47)    7525-30	Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease		605956		CDC	2005	Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population.											
151857		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Palmieri, O.  et al. 2006	16441470				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Aliment Pharmacol Ther    2006    23(4)    497-506	Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis		605956		CDC	2006	Organic cation transporter gene cluster variants may confer susceptibility to both CD and UC, and the TC haplotype may influence some clinical features of IBD, but does not interact with CARD15 variants.											
151858		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Friedrichs, F.  et al. 2006	16446977				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;German;Quebec		CDC GDP info	64127	Hs.135201			Hum Genet    2006        1-7	Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men		605956		CDC	2006												
151859		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Latiano, A.  et al. 2006	16454837				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006    101(2)    318-25	Contribution of IBD5 Locus to Clinical Features of IBD Patients		605956		CDC	2006	Our study shows that presence of the IBD5 risk alleles, particularly in the homozygous state, is associated with IBD and especially with CD, without a significant epistasis with CARD15.											
151860		Crohn's disease inflammatory bowel disease	IMMUNE	IMM		16	16p12-q21	NOD2	49288550	49324488		Medici, V.  et al. 2006	16493449				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;German;Norwegian;Norwegian		CDC GDP info	64127	Hs.135201			Eur J Hum Genet    2006	Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations		605956		CDC	2006												
151861		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Buning, C.  et al. 2006	16494592				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;German		CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006	DLG5 Variants in Inflammatory Bowel Disease		605956		CDC	2006	We could not replicate that DLG5 is a relevant disease susceptibility gene for IBD in German or Hungarian subjects.											
151862		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488			16519819				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		605956		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
151863	N	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488			16534418				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930		Great Britain	CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2006    12(3)    178-184	Genetic Variants in TNF-alpha But Not DLG5 Are Associated with Inflammatory Bowel Disease in a Large United Kingdom Cohort		605956		CDC	2006	We have confirmed an association between the TNF-857 promoter polymorphism and IBD in a large independent UK dataset but were unable to replicate an association at the previously reported loci within DLG5. This may reflect heterogeneity between the populations, a smaller effect size than originally predicted, or possibly a false-positive result in the original study. Further fine mapping studies of the TNF promoter region and studies assessing functional consequences of TNF promoter polymorphisms are now required in IBD.											
151864	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Ferraris, A.  et al. 2006	16670523				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Italian		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2006    12(5)    355-361	Relationship Between CARD15, SLC22A4/5, and DLG5 Polymorphisms and Early-Onset Inflammatory Bowel Diseases		605956		CDC	2006	Our results demonstrate that in the Italian population, the major CARD15 polymorphisms are associated with susceptibility to early-onset CD and with ileal involvement and suggest a previously unreported association with very early-onset, severe UC.											
151865		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Lakatos, P. L.  et al. 2006	16670524				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;German		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2006    12(5)    362-368	DLG5 R30Q Is Not Associated With IBD in Hungarian IBD Patients but Predicts Clinical Response to Steroids in Crohn's Disease		605956		CDC	2006	The present data strongly contrast previous data from Germany.											
151866	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Ozen, S. C.  et al. 2006	16741608				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Turkish	Turkey	CDC GDP info	64127	Hs.135201			J Gastroenterol    2006    41(4)    304-310	NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease		605956		CDC	2006	These findings suggest that the polymorphisms observed in the NOD2/CARD15, NOD1/CARD4, and ICAM-1 genes are not genetic susceptibility factors for Crohn\s disease or ulcerative colitis in Turkey.											
151867	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Babusukumar, U.  et al. 2006	16771961				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Caucasian		CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006    101(6)    1354-61	Contribution of OCTN Variants Within the IBD5 Locus to Pediatric Onset Crohn's Disease		605956		CDC	2006	We confirm the association of the OCTN variants (SLC22A4 and SLC22A5) in pediatric onset CD as seen in adult CD cohorts.											
151868	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	16	16p12-q21	NOD2	49288550	49324488		Glas, J.  et al. 2006	16804398			promoter	caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	German		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2006    12(7)    606-611	Role of the NFKB1 -94ins/delATTG Promoter Polymorphism in IBD and Potential Interactions with Polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN Genes		605956		CDC	2006	The present study could not confirm the reported association of the -94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.											
151869		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Figueroa, C.  et al. 2006	16840031				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;South American		CDC GDP info	64127	Hs.135201			Eur Cytokine Netw    2006    17(2)    125-30	NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patients with inflammatory bowel disease		605956		CDC	2006												
151871	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis	16	16p12-q21	NOD2	49288550	49324488		Gazouli, M.  et al. 2006	16933467				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930		Greece	CDC GDP info	64127	Hs.135201			Sarcoidosis Vasc Diffuse Lung Dis    2006    23(1)    23-9	CARD15/NOD2, CD14, and toll-like receptor 4 gene polymorphisms in Greek patients with sarcoidosis		605956		CDC	2006	Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT genotype of the CD14 promoter are associated with increased susceptibility for developing sarcoidosis.											
151872	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Tremelling, M.  et al. 2006	17012967				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930		Great Britain	CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2006    12(10)    967-971	Complex Insertion/Deletion Polymorphism in NOD1 (CARD4) is Not Associated with Inflammatory Bowel Disease Susceptibility in East Anglia Panel		605956		CDC	2006	There was no overall evidence of association between IBD and the reported NOD1 susceptibility variant ND1 + 32656 in our panel. The discrepancy with the earlier report may reflect a smaller effect size than previously predicted, a false-positive result in the index study, or population heterogeneity.											
151873	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		McGovern, D. P.  et al. 2006	17030188				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gastroenterology    2006    131(4)    1190-6	TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease		605956		CDC	2006	We have shown an association between a likely functional polymorphism in TUCAN and CD.		smoking (tobacco)									
151874		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Karlsen, T. H.  et al. 2006	17100974				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;Scandinavian	Scandinavia	CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		605956		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
151875	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Brant, S. R.  et al. 2006	17100976				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Jewish	Manitoba	CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006	A Population-Based Case-Control Study of CARD15 and Other Risk Factors in Crohn's Disease and Ulcerative Colitis		605956		CDC	2006	CARD15/NOD2, family history, smoking, and Jewish ethnicity are independent risk factors for CD. Examination of these risk factors together in a single population-based cohort has provided initial data for population epidemiological characterization and genetic counseling uses.		smoking (tobacco)									
151876	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Biank, V.  et al. 2006	17156146				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2006	DLG5 R30Q Variant Is a Female-Specific Protective Factor in Pediatric Onset Crohn's Disease		605956		CDC	2006	DLG5 has a gender-specific role in the susceptibility of pediatric CD. Specifically, the significant negative association found between DLG5 R30Q and CD in female children suggests DLG5 may have a protective effect in CD susceptibility for female children.											
151878	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Riis, L.  et al. 2007	17206636				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European;Scandinavian		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2007    13(1)    24-32	The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients		605956		CDC	2007	The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD.											
151879	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Devlin, S. M.  et al. 2006	17258734				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gastroenterology    2006	NOD2 Variants and Antibody Response to Microbial Antigens in Crohn's Disease Patients and Their Unaffected Relatives		605956		CDC	2006	Patients with Crohn\s disease and unaffected relatives carrying variants of the NOD2 gene have increased adaptive immune responses to microbial antigens.											
151880	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Alvarez-Lobos, M.  et al. 2007	17269998				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Aliment Pharmacol Ther    2007    25(4)    429-40	Combined type-1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour		605956		CDC	2007	Combined PAI-1 and NOD2/CARD15 genotyping predict complicated Crohn\s disease. Patients with these variants could benefit from early interventions.											
151881	N	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Van Limbergen, J.  et al. 2007	17285593				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Scottish		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2007	Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern Europe		605956		CDC	2007												
151883		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Van Limbergen, J. E.  et al. 2007	17337463				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gut    2007	IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland		605956		CDC	2007												
151884		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Martinez, A.  et al. 2007	17389014				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Tissue Antigens    2007    69(4)    313-7	Epistatic interaction between FCRL3 and MHC in Spanish patients with IBD		605956		CDC	2007												
151885		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	NOD2	49288550	49324488		Papp, M.  et al. 2007	17417801				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	European		CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2007	Seroreactivity to microbial components in Crohn's disease is associated with ileal involvement, noninflammatory disease behavior and NOD2/CARD15 genotype, but not with risk for surgery in a Hungarian cohort of IBD patients		605956		CDC	2007	Serological markers were useful in the differentiation between CD and UC in an Eastern European IBD cohort.											
151887		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Libioulle, C.  et al. 2007	17447842				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			PLoS Genet    2007    3(4)    e58	Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4		605956		CDC	2007												
151888	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	16	16p12-q21	NOD2	49288550	49324488		Cucchiara, S.  et al. 2007	17451203				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Italian		CDC GDP info	64127	Hs.135201			World J Gastroenterol    2007    13(8)    1221-1229	Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases		605956		CDC	2007	Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD.											
151890		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Tremelling, M.  et al. 2007	17484863				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gastroenterology    2007    132(5)    1657-1664	IL23R Variation Determines Susceptibility But Not Disease Phenotype in Inflammatory Bowel Disease		605956		CDC	2007	This study shows an association between IL23R and all subphenotypes of CD with a smaller effect on UC.											
151891	N	Crohn's disease ulcerative colitis,Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Ileitis|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Prescott, N. J.  et al. 2007	17484864				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gastroenterology    2007    132(5)    1665-1671	A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn's Disease and Is Independent of CARD15 and IBD5		605956		CDC	2007	The association of ATG16L1 with Crohn\s disease and possibly with ulcerative colitis supports a role for autophagy in the pathogenesis of inflammatory bowel disease.											
151892		perianal disease	OTHER	OTH	Crohn Disease|Anus Diseases	16	16p12-q21	NOD2	49288550	49324488		Karban, A.  et al. 2007	17509030				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Ashkenazi;Israeli;Jewish		CDC GDP info	64127	Hs.135201			Am J Gastroenterol    2007	Risk Factors for Perianal Crohn's Disease		605956		CDC	2007	The strongest factor associated with PD is rectal inflammation.											
151893		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Weersma, R. K.  et al. 2007	17558906				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Scand J Gastroenterol    2007    42(7)    827-33	Association of interleukin-1 receptor-associated kinase M (IRAK-M) and inflammatory bowel diseases		605956		CDC	2007	were stratified for CARD15 mutations R702W, G908R and 1007fsinsC.			IRAK3		NOD2						
151895		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Henckaerts, L. C.  et al. 2007	17595233				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		605956		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
151897		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Van Limbergen, J.  et al. 2007	17613538				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Scottish		CDC GDP info	64127	Hs.135201			Hum Mol Genet    2007	Investigation of NOD1/CARD4 variation in Inflammatory Bowel Disease using a haplotype-tagging strategy		605956		CDC	2007												
151898		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	16	16p12-q21	NOD2	49288550	49324488		Macaluso, F.  et al. 2007	17620097				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis		605956		CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151899	N	achalasia	OTHER	OTH	Esophageal Achalasia	12	12q24.2-q24.31	NOS1	116135361	116283965		Mearin, F.  et al. 2006	16848803				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Spanish;Caucasian		CDC GDP info	4842	Hs.253420			Am J Gastroenterol    2006	Association Between Achalasia and Nitric Oxide Synthase Gene Polymorphisms		163731		CDC	2006	Our data suggest that NOS gene polymorphisms are not involved in the susceptibility to and nature of the clinical course of sporadic achalasia.											
151900		suicide	PSYCH	PSY		12	12q24.2-q24.31	NOS1	116135361	116283965		Rujescu, D.  et al. 2006	16964084				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			Psychiatr Danub    2006    18(Suppl-1)    121	HTR2C, HTR1A, NOS-I AND NOS-III GENE VARIANTS IN GERMAN AND ITALIAN SUICIDE ATTEMPTERS AND COMPLETERS		163731		CDC	2006												
151901	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Huerta, C.  et al. 2007	17174475				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			Neurosci Lett    2007    413(3)    202-5	No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes		163731		CDC	2007												
151903		acute chest syndrome asthma	IMMUNE	IMM	Asthma|Anemia, Sickle Cell|Syndrome|Acute Disease|Chest Pain	12	12q24.2-q24.31	NOS1	116135361	116283965		Duckworth, L.  et al. 2007	17351927				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			Pediatr Pulmonol    2007	Physician-diagnosed asthma and acute chest syndrome		163731		CDC	2007												
151904		enuresis, primary nocturnal	OTHER	OTH		12	12q24.2-q24.31	NOS1	116135361	116283965		Balat, A.  et al. 2007	17365914				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Turkish		CDC GDP info	4842	Hs.253420			Ren Fail    2007    29(1)    79-83	Nitric oxide synthase gene polymorphisms in children with primary nocturnal enuresis		163731		CDC	2007												
151905	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		12	12q24.2-q24.31	NOS1	116135361	116283965		Galimberti, D.  et al. 2007	17418914			promoter	Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			Neurobiol Aging    2007	Association of a NOS1 promoter repeat with Alzheimer's disease		163731		CDC	2007												
151906	Y	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	12	12q24.2-q24.31	NOS1	116135361	116283965		Garcia-Barcelo, M.  et al. 2007	17448763				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		163731		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
151907	Y	asthma IgE	IMMUNE	IMM	Asthma	12	12q24.2-q24.31	NOS1	116135361	116283965		Martinez, B.  et al. 2007	17536218				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1			CDC GDP info	4842	Hs.253420			Int Arch Allergy Immunol    2007    144(2)    105-113	A NOS1 Gene Polymorphism Associated with Asthma and Specific Immunoglobulin E Response to Mite Allergens in a Colombian Population		163731		CDC	2007	NOS1 exon 29 CA-repeat may be a risk factor for asthma susceptibility and mite specific IgE response in a Colombian population. Copyright (c) 2007 S. Karger AG, Basel.											
151908	Y	suicide	PSYCH	PSY		12	12q24.2-q24.31	NOS1	116135361	116283965		Rujescu, D.  et al. 2007	17579350				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	Caucasian;German		CDC GDP info	4842	Hs.253420			Am J Med Genet B Neuropsychiatr Genet    2007	NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits		163731		CDC	2007	our study suggests a possible involvement of NOS-I and NOS-III gene variants in suicidal behavior and related intermediate phenotypes. (c) 2007 Wiley-Liss, Inc.											
151909		cardiac repolarization	CARDIOVASCULAR	CARD	Long QT Syndrome	1	1q23.3	NOS1AP	160306204	160604854		Post, W.  et al. 2007	17565224				Nitric oxide synthase 1 (neuronal) adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY841899			CDC GDP info	9722	Hs.655000			Hum Hered    2007    64(4)    214-219	Associations between Genetic Variants in the NOS1AP (CAPON) Gene and Cardiac Repolarization in the Old Order Amish		605551		CDC	2007	Heritability of the QT interval was 0.											
151911			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lee, J. K.  et al. 2003	12768436				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese;Caucasian;Korean		CDC GDP info	4843	Hs.462525			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		163730		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
151913		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682			16543247				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		163730		CDC	2006												
151914	N	brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Mineharu, Y.  et al. 2006	16574921				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Stroke    2006	Association Analysis of Common Variants of ELN, NOS2A, APOE and ACE2 to Intracranial Aneurysm		163730		CDC	2006	Investigated polymorphisms in this study were not associated with IA.											
151915		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Oliver, J.  et al. 2006	16634870				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Tissue Antigens    2006    67(4)    326-30	Inducible and endothelial nitric oxide synthase genes polymorphism in inflammatory bowel disease		163730		CDC	2006												
151916	N	asthma	IMMUNE	IMM	Asthma	17	17q11.2-q12	NOS2A	23107918	23151682		Leung, T. F.  et al. 2006	16703578				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Japanese;Chinese;Caucasian		CDC GDP info	4843	Hs.462525			Pediatr Pulmonol    2006	Lack of association between NOS2 pentanucleotide repeat polymorphism and asthma phenotypes or exhaled nitric oxide concentration		163730		CDC	2006												
151917		hypertension sclerosis, systemic	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Scleroderma, Systemic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Kawaguchi, Y.  et al. 2006	16813666				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Arthritis Res Ther    2006    8(4)    R104	NOS2 polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis		163730		CDC	2006												
151919	N	achalasia	OTHER	OTH	Esophageal Achalasia	17	17q11.2-q12	NOS2A	23107918	23151682		Mearin, F.  et al. 2006	16848803				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Spanish;Caucasian		CDC GDP info	4843	Hs.462525			Am J Gastroenterol    2006	Association Between Achalasia and Nitric Oxide Synthase Gene Polymorphisms		163730		CDC	2006	Our data suggest that NOS gene polymorphisms are not involved in the susceptibility to and nature of the clinical course of sporadic achalasia.											
151920	N	osteomyelitis	IMMUNE	IMM	Osteomyelitis|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Asensi, V.  et al. 2006	16889995	NOS2A (27-bp repeat, intron 4)		Intron	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Nitric Oxide    2006	The NOS3 (27-bp repeat, intron 4) polymorphism is associated with susceptibility to osteomyelitis		163730		CDC	2006												
151921	Y	asthma	IMMUNE	IMM		17	17q11.2-q12	NOS2A	23107918	23151682		Batra, J.  et al. 2006	16928712				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Thorax    2006	Association of Inducible Nitric Oxide Synthase (iNOS) with Asthma Severity, Total Serum IgE and Blood Eosinophil Levels		163730		CDC	2006	This is the first study identifying the repeat polymorphisms in the iNOS gene that are associated with asthma severity and eosinophils.											
151923	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q12	NOS2A	23107918	23151682		Landi, S.  et al. 2006	17062130				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		163730		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
151924		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Liao, L.  et al. 2006	17070441				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Chinese;Caucasian;Indian;Asian		CDC GDP info	4843	Hs.462525			J Diabetes Complications    2006    20(6)    371-5	Nitric oxide synthase gene polymorphisms and nephropathy in Asians with Type 2 diabetes		163730		CDC	2006	We have identified significant differences in the (AAAT)(n) and (CCTTT)(n) polymorphisms in Asian diabetics.											
151926		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lan, Q.  et al. 2006	17149600				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		163730		CDC	2006												
151928		heart rate	CARDIOVASCULAR	CARD		17	17q11.2-q12	NOS2A	23107918	23151682		Ma, H.  et al. 2006	17160951				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    670-2	The relationship between resting heart rate and single nucleotide polymorphism at 3 sites of nitric oxide synthase gene in the Chinese Han nationality population.		163730		CDC	2006	The resting heart rate of Chinese Han nationality population with mutated genotype GG of NOS3 -922A/G and with mutated genotype TT of NOS3 894G/T were lower than those with wild genotype of NOS3 -922A/G and NOS3 894G/T. The finding suggests that resting heart rate is associated with SNP of NOS3 -922A/G and NOS3 894G/T.											
151929	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Huerta, C.  et al. 2007	17174475				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Neurosci Lett    2007    413(3)    202-5	No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes		163730		CDC	2007												
151930	Y	asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Holla, L. I.  et al. 2006	17177683				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Clin Exp Allergy    2006    36(12)    1592-601	Analysis of the inducible nitric oxide synthase gene polymorphisms in Czech patients with atopic diseases		163730		CDC	2006	Our findings suggest that inducible NOS can play a role in atopic disorders, and several polymorphisms in its gene may be important for asthma protection or susceptibility.											
151931	Y	asthma	IMMUNE	IMM	Asthma	17	17q11.2-q12	NOS2A	23107918	23151682		Batra, J.  et al. 2007	17189532				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Thorax    2007    62(1)    16-22	Association of inducible nitric oxide synthase with asthma severity, total serum immunoglobulin E and blood eosinophil levels		163730		CDC	2007	This is the first study to identify the repeat polymorphisms in the iNOS gene that are associated with severity of asthma and eosinophils.											
151932		silicosis tuberculosis	INFECTION	INF		17	17q11.2-q12	NOS2A	23107918	23151682		Qu, Y.  et al. 2007	17223386				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Int J Hyg Environ Health    2007	Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners		163730		CDC	2007	the C>T mutation of iNOS Ser608Leu may be an important protective factor to miners. On the other hand, the variant NRAMP1 INT4 may play a role in the development of PTB in Chinese miners. Therefore, the novel information can be used as guideline for further mechanistic investigations and for strengthening specific protection protocols for workers.		dust exposure									
151933	Y	preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Premature Birth|Infant, Premature, Diseases	17	17q11.2-q12	NOS2A	23107918	23151682		Gibson, C. S.  et al. 2007	17267840				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3		South Australia	CDC GDP info	4843	Hs.462525			Obstet Gynecol    2007    109(2)    384-391	Genetic Polymorphisms and Spontaneous Preterm Birth		163730		CDC	2007	We confirm previous observations that variants of the beta adrenergic receptor and of nitric oxide synthase are associated with prematurity, and suggest that genetic variants of the placental antifibrinolytic plasminogen activator inhibitor-2, and thrombomodulin and alpha adducin may be contributors to risk of spontaneous preterm birth. LEVEL OF EVIDENCE: II											
151935	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	17	17q11.2-q12	NOS2A	23107918	23151682		Nakao, K.  et al. 2007	17296902				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Arch Ophthalmol    2007    125(2)    246-51	Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease		163730		CDC	2007	The manganese SOD Val16 allele is associated with$$$ the development of BD in Japan.											
151936			NORMALVARIATION	NV		17	17q11.2-q12	NOS2A	23107918	23151682		Falchi, A.  et al. 2007	17320454				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Leg Med (Tokyo)    2007	Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations		163730		CDC	2007												
151937		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Li, C.  et al. 2007	17328085				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	non-Hispanic		CDC GDP info	4843	Hs.462525			Cancer    2007	Polymorphisms of the neuronal and inducible nitric oxide synthase genes and the risk of cutaneous melanoma		163730		CDC	2007	Genetic variants of nNOS, but not iNOS, may be biomarkers for susceptibility to CM, and the risk of CM associated with sunburns and moles may be modulated by nNOS variant genotypes.		moles sunburn									
151939	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Lee, T. S.  et al. 2007	17404026				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Korean		CDC GDP info	4843	Hs.462525			Ann N Y Acad Sci    2007    1095    134-42	Lack of association of the cyclooxygenase-2 and inducible nitric oxide synthase gene polymorphism with risk of cervical cancer in korean population		163730		CDC	2007												
151940		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	17	17q11.2-q12	NOS2A	23107918	23151682		Elliott, L.  et al. 2007	17408468				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		163730		CDC	2007												
151941	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Miguel Gomez, L.  et al. 2007	17475563				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Tuberculosis (Edinb)    2007	A polymorphism in the inducible nitric oxide synthase gene is associated with tuberculosis		163730		CDC	2007												
151942	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urologic Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Shen, C. H.  et al. 2007	17482959			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Urology    2007    69(5)    1001-6	Inducible nitric oxide synthase promoter polymorphism, cigarette smoking, and urothelial carcinoma risk		163730		CDC	2007	These findings suggest that the polymorphic (CCTTT)n repeat in the iNOS promoter region might be involved in the development of UC, especially in those who have ever smoked.		smoking (tobacco)									
151943		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		7	7q36	NOS3	150319079	150342609		Comings, D. E.  et al. 2000	11140838				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		163729		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
151945		sickle cell anemia	HEMATOLOGICAL	HEM	Anemia, Sickle Cell	7	7q36	NOS3	150319079	150342609			16305685				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Brazilian	Brazil	CDC GDP info	4846	Hs.511603			Tissue Antigens    2005    66(6)    683-90	Polymorphisms of chemokine receptors and eNOS in Brazilian patients with sickle cell disease		163729		CDC	2005												
151946	Y	endothelial function von Willebrand factor	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Antoniades, C.  et al. 2006	16337503				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Int J Cardiol    2006    107(1)    95-100	Genetic polymorphisms G894T on the eNOS gene is associated with endothelial function and vWF levels in premature myocardial infarction survivors		163729		CDC	2006	The presence of 894T allele on eNOS gene is associated with impaired endothelial function and higher levels of von Willebrand factor in relatively young patients with myocardial infarction.											
151947	Y	endothelium-dependent arterial dilation	CARDIOVASCULAR	CARD	Diabetic Angiopathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			16401309				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Diabet Med    2005    22(12)    1663-9	A TC polymorphism in 5'-flanking region of the endothelial nitric oxide synthase gene and endothelium-dependent arterial dilation in Type 2 diabetes		163729		CDC	2005	The C allele of T-786C polymorphism of eNOS gene is a genetic risk factor for endothelial dysfunction in Type 2 diabetic patients, especially among smokers.		smoking (tobacco)									
151948	N	diabetes, type 2 erectile dysfunction	METABOLIC	MET	Erectile Dysfunction|Impotence, Vasculogenic|Coronary Artery Disease|Diabetes Mellitus, Type 2|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609			16409219				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Sex Med    2006    3(1)    69-76	Polymorphism of Endothelial Nitric Oxide Synthase Gene in Patients with Erectile Dysfunction		163729		CDC	2006	In our study, no correlation was detected between the polymorphism of eNOS gene and ED.											
151950		prostate cancer prostatic hyperplasia	CANCER	CAN	Prostatic Intraepithelial Neoplasia|Prostatic Neoplasms|Prostatic Hyperplasia	7	7q36	NOS3	150319079	150342609		Marangoni, K.  et al. 2006	16458450				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Cancer Detect Prev    2006	The endothelial nitric oxide synthase Glu-298-Asp polymorphism and its mRNA expression in the peripheral blood of patients with prostate cancer and benign prostatic hyperplasia		163729		CDC	2006	The G allele may have a secondary influence on the prostate cancer predisposition, but an essential role on the event of tumor cells hematogenous dissemination, probably due to the angiogenic stimulus.											
151951	Y	endurance performance	NORMALVARIATION	NV		7	7q36	NOS3	150319079	150342609		Saunders, C. J.  et al. 2006	16461337				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian;South African		CDC GDP info	4846	Hs.511603			Hum Mol Genet    2006	The Bradykinin {beta}2 receptor (BDKRB2) and endothelial nitric oxide synthase 3(NOS3) genes and endurance performance during Ironman Triathlons		163729		CDC	2006	both the NOS3 and BDKRB2 genes are associated with the actual performance during the Ironman Triathlons.											
151952	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	7	7q36	NOS3	150319079	150342609		Kara, N.  et al. 2006	16463158				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDP info	4846	Hs.511603			Arch Dermatol Res    2006        1-4	Lack of evidence for association between endothelial nitric oxide synthase gene polymorphism (glu298asp) with Behcet's disease in the Turkish population		163729		CDC	2006												
151954		hypertension	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Ma, H. X.  et al. 2006	16469708				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Yi Chuan    2006    28(1)    3-10	Single Nucleotide Polymorphisms in NOS3 A-922G, T-786C and G894T		163729		CDC	2006												
151955		creatinine kidney function lead toxicity	METABOLIC	MET	Kidney Diseases|Lead Poisoning	7	7q36	NOS3	150319079	150342609		Weaver, V. M.  et al. 2006	16487505				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDP info	4846	Hs.511603			Environ Res    2006	Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers		163729		CDC	2006	VDR and/or ALAD genotypes modified associations between all the lead biomarkers, except patella lead, and the renal outcomes.		lead									
151956	N	atherosclerosis, generalized blood pressure, arterial cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Atherosclerosis|Diabetic Angiopathies|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Burdon, K. P.  et al. 2006	16492203				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American;European		CDC GDP info	4846	Hs.511603			Diabet Med    2006    23(3)    228-34	Association analysis of genes in the renin-angiotensin system with subclinical cardiovascular disease in families with Type 2 diabetes mellitus		163729		CDC	2006	Genetic variation of the RAS and NOS3 genes do not appear to strongly influence subclinical cardiovascular disease or blood pressure in this diabetic population.											
151957	Y	tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Schizophrenia	7	7q36	NOS3	150319079	150342609		Liou, Y. J.  et al. 2006	16495774	haplotype T-4b-Glu			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Pharmacogenet Genomics    2006    16(3)    151-157	Haplotype analysis of endothelial nitric oxide synthase (NOS3) genetic variants and tardive dyskinesia in patients with schizophrenia		163729		CDC	2006	We found that the haplotype T-4b-Glu represents a protective haplotype against TD after long-term antipsychotic treatment. This finding suggests that human NOS3 gene may be involved in the pathogenesis of TD.											
151958	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Marcun Varda, N.  et al. 2006	16497648				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			Acta Paediatr    2006    95(3)    353-8	Polymorphisms in four candidate genes in young patients with essential hypertension		163729		CDC	2006	they do not confer a significantly increased risk of the development of EH in the Slovenian population of hypertensive children.											
151959	Y	bone density fracture risk	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Fractures|Fractures, Bone|Hip Fractures|Hip Fractures|Spinal Fractures	7	7q36	NOS3	150319079	150342609		Taylor, B. C.  et al. 2006	16503213				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		United States	CDC GDP info	4846	Hs.511603			Bone    2006	Association of endothelial nitric oxide synthase genotypes with bone mineral density, bone loss, hip structure, and risk of fracture in older women		163729		CDC	2006	the Glu298Asp polymorphism does not contribute substantially or consistently to indices of bone strength in this sample of older white women, although our findings suggest allelic variation at the NOS3 locus maybe associated with hip fracture risk.											
151961	N	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	7	7q36	NOS3	150319079	150342609			16522905				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		163729		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
151962		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36	NOS3	150319079	150342609			16538535				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			Breast Cancer Res Treat    2006	Polymorphisms of the endothelial nitric oxide synthase gene in breast cancer		163729		CDC	2006												
151963	N	preeclampsia	REPRODUCTION	REP		7	7q36	NOS3	150319079	150342609			16542455				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			BMC Pregnancy Childbirth    2006    6(1)    7	Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) and development of pre-eclampsia		163729		CDC	2006												
151964		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			16543247				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		163729		CDC	2006												
151965	Y	angina, vasospastic	CARDIOVASCULAR	CARD	Coronary Vasospasm	7	7q36	NOS3	150319079	150342609		Kaneda, H.  et al. 2006	16565556				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Circ J    2006    70(4)    409-13	Coronary artery spasm and the polymorphisms of the endothelial nitric oxide synthase gene		163729		CDC	2006	The present study results indicated that NOS4a could be a good marker for coronary artery spasm.											
151967		coronary spasm	CARDIOVASCULAR	CARD	Coronary Vasospasm	7	7q36	NOS3	150319079	150342609		Nakayama, M.  et al. 2006	16609365				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Pharmacogenet Genomics    2006    16(5)    339-345	A -786T>C polymorphism in the endothelial nitric oxide synthase gene reduces serum nitrite/nitrate levels from the heart due to an intracoronary injection of acetylcholine		163729		CDC	2006	the -786T>C polymorphism reduces the NOx level from the heart due to an intracoronary injection of ACh, and thereby predisposes the patients to severe coronary spasm.											
151969	Y	neuropathy, non-arteritic ischaemic optic	NEUROLOGICAL	NEUR	Optic Neuropathy, Ischemic	7	7q36	NOS3	150319079	150342609		Sakai, T.  et al. 2006	16633797	NOS3 T(-786)C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Graefes Arch Clin Exp Ophthalmol    2006	Endothelial nitric oxide synthase gene polymorphisms in non-arteritic anterior ischemic optic neuropathy		163729		CDC	2006	We found an increased prevalence of T(-786)C polymorphism of the eNOS gene in patients with NAION. Our data suggest that the T(-786)C polymorphism of the eNOS gene may be an important risk factor in the development of NAION in Japanese subjects.											
151970		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Oliver, J.  et al. 2006	16634870				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Tissue Antigens    2006    67(4)    326-30	Inducible and endothelial nitric oxide synthase genes polymorphism in inflammatory bowel disease		163729		CDC	2006												
151971	P	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Suganthalakshmi, B.  et al. 2006	16636650				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Indian		CDC GDP info	4846	Hs.511603			Mol Vis    2006    12    336-41	Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy		163729		CDC	2006	This is the first study to report VEGF and eNOS gene polymorphisms in patients with DR in the Indian population.											
151972		cardiac death	CARDIOVASCULAR	CARD	Heart Diseases|Death, Sudden, Cardiac|Myocardial Ischemia|Coronary Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Ameno, K.  et al. 2006	16683402				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Vojnosanit Pregl    2006    63(4)    357-61; discussion 362-3	Autopsy and postmortem examination case study on genetic risk factors for cardiac death		163729		CDC	2006	The polymorphism of Glu298Asp eNOS gene in dead cases may be useful for determining the cause of death in CHD cases in the Japanese population.											
151973	Y	peritoneal transport	RENAL	REN	Kidney Diseases	7	7q36	NOS3	150319079	150342609		Akcay, A.  et al. 2006	16741369				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nephron Clin Pract    2006    104(1)    c41-c46	Relationship of ENOS and RAS Gene Polymorphisms to Initial Peritoneal Transport Status in Peritoneal Dialysis Patients		163729		CDC	2006	Modulation of the nitric oxide activity via the ENOS a/b polymorphism may have a considerable effect on the basal peritoneal permeability.											
151974	N	cardiac index catecholamine support hemodynamics vascular resistance	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Liakopoulos, O. J.  et al. 2006	16755443	894G/T and -786C/T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Thorac Cardiovasc Surg    2006    54(4)    233-8	Influence of eNOS Gene Polymorphisms (894G/T; - 786C/T) on Postoperative Hemodynamics After Cardiac Surgery		163729		CDC	2006	In contrast to current suggestions, the 894G/T and -786C/T genetic polymorphisms of the eNOS gene do not influence early perioperative hemodynamics after cardiac surgery with CPB.											
151976		blood pressure, arterial cardiac output heart rate	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Hand, B. D.  et al. 2006	16761221				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Int J Sports Med    2006	NOS3 Gene Polymorphisms and Exercise Hemodynamics in Postmenopausal Women		163729		CDC	2006												
151977	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Khawaja, M. R.  et al. 2006	16765468				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Pakistan	CDC GDP info	4846	Hs.511603			Int J Cardiol    2006	Association of endothelial nitric oxide synthase gene G894T polymorphism with essential hypertension in an adult Pakistani Pathan population		163729		CDC	2006	the present study in a population of Pakistani adult Pathans does not support the association of the eNOS gene G894T polymorphism to essential hypertension.											
151978		cholesterol cholesterol, LDL lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q36	NOS3	150319079	150342609		Choumerianou, D. M.  et al. 2006	16776623				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Chem Lab Med    2006    44(7)    799-806	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia		163729		CDC	2006	These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.											
151979	Y	hypertension	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Zhang, L. P.  et al. 2006	16776950	exon7 G894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Zhonghua Xin Xue Guan Bing Za Zhi    2006    34(5)    403-6	Association between endothelial nitric oxide synthase gene (G894T) polymorphism and essential hypertension in uygur populations.		163729		CDC	2006	eNOS gene exon7 G894T polymorphism might relate to essential hypertension in Uygur population in Xinjiang province.											
151980		osteonecrosis	METABOLIC	MET	Femur Head Necrosis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Koo, K. H.  et al. 2006	16779830				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean	Korea	CDC GDP info	4846	Hs.511603			J Orthop Res    2006	Endothelial nitric oxide synthase gene polymorphisms in patients with nontraumatic femoral head osteonecrosis		163729		CDC	2006												
151981	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2006	16802365				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Arthritis Rheum    2006    54(7)    2263-2270	Hemorheologic profile in systemic sclerosis		163729		CDC	2006	Our findings document an altered rheologic profile in SSc and demonstrate a relationship between this alteration and NOS3 polymorphisms, thus shedding light on a potential novel mechanism influencing the microcirculation in this disease.											
151983	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Royo, J. L.  et al. 2006	16807677	NOS3 Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Breast Cancer Res Treat    2006	Lack of Association Between NOS3 Glu298Asp and Breast Cancer Risk		163729		CDC	2006												
151984	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q36	NOS3	150319079	150342609		Akomolafe, A.  et al. 2006	16813604				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American;Caucasian;Asian		CDC GDP info	4846	Hs.511603			Clin Genet    2006    70(1)    49-56	Genetic association between endothelial nitric oxide synthase and Alzheimer disease		163729		CDC	2006												
151985	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Heart Failure|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Bedi, M.  et al. 2006	16818212				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Heart Rhythm    2006    3(7)    808-12	Genetic susceptibility to atrial fibrillation in patients with congestive heart failure		163729		CDC	2006	In patients with CHF, the presence of AF was significantly associated with certain ACE and eNOS genotypes.											
151986		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Conde, M. C.  et al. 2006	16820915				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Oncol Rep    2006    16(2)    353-9	Genetic analysis of Caveolin-1 and eNOS genes in colorectal cancer		163729		CDC	2006												
151987		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36	NOS3	150319079	150342609		Choi, J. Y.  et al. 2006	16821086				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Breast Cancer Res Treat    2006	Genetic Polymorphisms of eNOS, Hormone Receptor Status, and Survival of Breast Cancer		163729		CDC	2006												
151988	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Zhao, Q.  et al. 2006	16834924				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Chinese;Caucasian	China	CDC GDP info	4846	Hs.511603			Chin Med J (Engl)    2006    119(13)    1065-71	Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese		163729		CDC	2006	The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.											
151989	Y	allergy asthma	IMMUNE	IMM	Asthma|Hypersensitivity|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Holla, L. I.  et al. 2006	16837812			promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			Int Arch Allergy Immunol    2006    141(2)    103-109	Association Study of Promoter Polymorphisms within the NOS3 Gene and Allergic Diseases		163729		CDC	2006	Our results suggest that NOS3 gene variants may be one of the factors that participate in the pathogenesis of asthma in men.											
151991		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Agirbasli, D.  et al. 2006	16845248				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Coron Artery Dis    2006    17(5)    413-7	Interaction among 5,10 methylenetetrahydrofolate reductase, plasminogen activator inhibitor and endothelial nitric oxide synthase gene polymorphisms predicts the severity of coronary artery disease in Turkish patients		163729		CDC	2006	These three genetic polymorphisms are susceptibility loci and genotypes of these genes are neither necessary nor sufficient for the coronary artery disease to occur, but coexistence of high-risk alleles may increase the severity of coronary artery disease.											
151992	N	achalasia	OTHER	OTH	Esophageal Achalasia	7	7q36	NOS3	150319079	150342609		Mearin, F.  et al. 2006	16848803				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Spanish;Caucasian		CDC GDP info	4846	Hs.511603			Am J Gastroenterol    2006	Association Between Achalasia and Nitric Oxide Synthase Gene Polymorphisms		163729		CDC	2006	Our data suggest that NOS gene polymorphisms are not involved in the susceptibility to and nature of the clinical course of sporadic achalasia.											
151993	Y	erectile dysfunction	REPRODUCTION	REP	Erectile Dysfunction|Erectile Dysfunction	7	7q36	NOS3	150319079	150342609		Peskircioglu, L.  et al. 2006	16871271			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Int J Impot Res    2006	The association between intron 4 VNTR, E298A and IVF 23+10 G/T polymorphisms of ecNOS gene and sildenafil responsiveness in patients with erectile dysfunction		163729		CDC	2006			sildenafil									
151995	Y	osteomyelitis	IMMUNE	IMM	Osteomyelitis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Asensi, V.  et al. 2006	16889995			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nitric Oxide    2006	The NOS3 (27-bp repeat, intron 4) polymorphism is associated with susceptibility to osteomyelitis		163729		CDC	2006												
151997		limb deficiency defects	DEVELOPMENTAL	DEV	Limb Deformities, Congenital	7	7q36	NOS3	150319079	150342609		Carmichael, S. L.  et al. 2006	16906563				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Med Genet A    2006	Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake		163729		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
151998	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia|Genetic Predisposition to Disease|Recurrence	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2006	16915032	894T			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hypertens    2006    24(9)    1823-1829	Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow		163729		CDC	2006	An original finding is the increased risk of pre-eclampsia and recurrence of pregnancy negative events, probably by modulating the maternal-fetal flow, in women homozygous for the eNOS 894T allele previously analyzed for the ACE I/D polymorphism.			ACE	ACE I/D	NOS3	NOS3 894T					
151999		hyperglycemia	METABOLIC	MET	Hyperglycemia	7	7q36	NOS3	150319079	150342609		Tso, A. W.  et al. 2006	16919532				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Metabolism    2006    55(9)    1155-8	Endothelial nitric oxide synthase G894T (Glu298Asp) polymorphism was predictive of glycemic status in a 5-year prospective study of Chinese subjects with impaired glucose tolerance		163729		CDC	2006												
152000	N	hypertension left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Olcay, A.  et al. 2006	16923191				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish	Turkey	CDC GDP info	4846	Hs.511603			Cardiovasc Ultrasound    2006    4(1)    33	Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients		163729		CDC	2006												
152001		blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Dengel, D. R.  et al. 2006	16925467				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Physiol Res    2006	A preliminary study on T-786C endothelial nitric oxide synthase gene and renal hemodynamic and blood pressure responses to dietary sodium		163729		CDC	2006			sodium									
152003		hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Zintzaras, E.  et al. 2006	16940230				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Hypertension    2006	Endothelial NO Synthase Gene Polymorphisms and Hypertension. A Meta-Analysis		163729		CDC	2006	there is evidence of association only between 4b/a polymorphism and hypertension; however, studies exploring combinations of the polymorphisms may help us better understand the genetics of hypertension.											
152004		glomerulonephritis, acute poststreptococcal	INFECTION	INF	Streptococcal Infections|Glomerulonephritis|Acute Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Dursun, H.  et al. 2006	16941147			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Pediatr Nephrol    2006	Endothelial nitric oxide synthase gene intron 4 a/b VNTR polymorphism in children with APSGN		163729		CDC	2006												
152005		weight loss	METABOLIC	MET	Weight Loss	7	7q36	NOS3	150319079	150342609		Saunders, C. J.  et al. 2006	16950802				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian;South African		CDC GDP info	4846	Hs.511603			Hum Mol Genet    2006	Dipsogenic genes associated with weight changes during ironman triathlons		163729		CDC	2006	the functional SS genotype of the serotonin transporter-linked polymorphic region (5-HTTLPR) within the 5-HTT gene and the functional +9/+9 genotype of the BDKBR2 gene were associated with larger weight losses during the Ironman Triathlons. These findings suggest the involvement of the serotonergic pathways in the control of thirst and drinking behaviour and provide further evidence for the dipsogenic effect of circulating bradykinin.											
152007		sickle cell anemia	HEMATOLOGICAL	HEM	Pain|Vascular Diseases|Anemia, Sickle Cell|Genetic Predisposition to Disease|Chest Pain	7	7q36	NOS3	150319079	150342609		Chaar, V.  et al. 2006	16956834				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Haematologica    2006    91(9)    1277-8	ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia		163729		CDC	2006												
152008		blood nitrite oxidative stress	PHARMACOGENOMIC	PHARM		7	7q36	NOS3	150319079	150342609		Nagassaki, S.  et al. 2006	16962929				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Free Radic Biol Med    2006    41(7)    1044-9	eNOS gene T-786C polymorphism modulates atorvastatin-induced increase in blood nitrite		163729		CDC	2006			atorvastatin									
152009		suicide	PSYCH	PSY		7	7q36	NOS3	150319079	150342609		Rujescu, D.  et al. 2006	16964084				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Psychiatr Danub    2006    18(Suppl-1)    121	HTR2C, HTR1A, NOS-I AND NOS-III GENE VARIANTS IN GERMAN AND ITALIAN SUICIDE ATTEMPTERS AND COMPLETERS		163729		CDC	2006												
152010		high altitude adaptation	NORMALVARIATION	NV	Genetic Predisposition to Disease|Anoxia|Altitude Sickness	7	7q36	NOS3	150319079	150342609		Droma, Y.  et al. 2006	16978133				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			High Alt Med Biol    2006    7(3)    209-20	Genetic contribution of the endothelial nitric oxide synthase gene to high altitude adaptation in sherpas		163729		CDC	2006												
152012	Y	cardiac death	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Coronary Disease|Chest Pain	7	7q36	NOS3	150319079	150342609		Rossi, G. P.  et al. 2006	16979000	T(-786)C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Am Coll Cardiol    2006    48(6)    1166-74	The T(-786)C endothelial nitric oxide synthase genotype predicts cardiovascular mortality in high-risk patients		163729		CDC	2006	The T(-786)C SNP in the promoter of eNOS bears independent prognostic information and is associated with$$$ changes in markers of oxidant stress in high-risk white patients referred for coronary angiography.											
152013		Buerger's disease	CARDIOVASCULAR	CARD	Thromboangiitis Obliterans|Marijuana Abuse	7	7q36	NOS3	150319079	150342609		Glueck, C. J.  et al. 2006	17000887				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Appl Thromb Hemost    2006    12(4)    427-39	Stromelysin-1 5A/6A and eNOS T-786C Polymorphisms, MTHFR C677T and A1298C Mutations, and Cigarette-Cannabis Smoking		163729		CDC	2006			smoking cessation									
152014		atherosclerosis, coronary C-reactive protein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease|Inflammation	7	7q36	NOS3	150319079	150342609		Lekakis, J. P.  et al. 2006	17003932				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Thromb Haemost    2006    96(4)    520-8	Genetic variations of the endothelial nitric oxide synthase gene are related to increased levels of C-reactive protein and macrophage-colony stimulating-factor in patients with coronary artery disease		163729		CDC	2006												
152015		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Melchers, I.  et al. 2006	17009241			promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Arthritis Rheum    2006    54(10)    3144-3151	The (-786)C/T single-nucleotide polymorphism in the promoter of the gene for endothelial nitric oxide synthase		163729		CDC	2006	Individuals with the -786C/C genotype have an increased risk of developing RA. This may be explained by the IL-10 insensitivity of the C-type NOS3 gene promoter and the resulting failure to subdue CD40-mediated proinflammatory gene expression.											
152017	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus|Dyslipidemias	7	7q36	NOS3	150319079	150342609		Moe, K. T.  et al. 2006	17024134				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Singapore		CDC GDP info	4846	Hs.511603			J Hum Hypertens    2006	Association analysis of endothelial nitric oxide synthase gene polymorphism with primary hypertension in a Singapore population		163729		CDC	2006	the eNOS 4 B/B genotype is a genetic susceptibility factor for primary hypertension in a Singapore population.											
152018		cerebral vasospasm	CARDIOVASCULAR	CARD	Vasospasm, Intracranial|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Khurana, V. G.  et al. 2006	17029342				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Neurosurg Focus    2006    21(3)    E3	Update on evidence for a genetic predisposition to cerebral vasospasm		163729		CDC	2006												
152019	N	subarachnoid hemorrhage	NEUROLOGICAL	NEUR	Subarachnoid Hemorrhage|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Song, M. K.  et al. 2006	17043430				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDP info	4846	Hs.511603			J Korean Med Sci    2006    21(5)    922-6	Endothelial Nitric Oxide Gene T-786C Polymorphism and Subarachnoid Hemorrhage in Korean Population		163729		CDC	2006	the eNOS T-786C mutation was not found to be associated with either a susceptibility to SAH or vasospasm after SAH, or with aneurysm size in Korean population. The eNOS T-786C SNP T/C genotype could be used as a prognostic marker in individuals with SAH.											
152020		gastroschisis	DEVELOPMENTAL	DEV	Gastroschisis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Torfs, C. P.  et al. 2006	17051589				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Birth Defects Res A Clin Mol Teratol    2006    76(10)    723-730	Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis		163729		CDC	2006	These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.		smoking (tobacco), maternal									
152021	N	nephropathy, IgA	RENAL	REN		7	7q36	NOS3	150319079	150342609		Hong, Q.  et al. 2006	17062340				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(10)    1421-1422	Association between endothelial nitric oxide synthase gene 4a/b polymorphism and IgA nephropathy.		163729		CDC	2006	IgAN is not associated with VNTR polymorphism of eNOS gene, and no sufficient evidence has been obtained to establish the relation of eNOS VNTR polymorphism with the genetic factors of IgAN.											
152022	Y	breast cancer	CANCER	CAN	Carcinoma|Carcinoma, Intraductal, Noninfiltrating|Breast Neoplasms	7	7q36	NOS3	150319079	150342609		Lu, J.  et al. 2006	17063466	NOS3   -786T>C		promoter	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	non-Hispanic		CDC GDP info	4846	Hs.511603			Cancer    2006    107(9)    2245-2253	Promoter polymorphism (-786t>C) in the endothelial nitric oxide synthase gene is associated with risk of sporadic breast cancer in non-Hispanic white women age younger than 55 years		163729		CDC	2006	The results suggest that eNOS polymorphisms (especially -786T>C) may play a role in the development of sporadic breast cancer.		smoking (tobacco)									
152024	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Sandrim, V. C.  et al. 2006	17082721				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hypertens    2006    24(12)    2393-2397	Endothelial nitric oxide synthase haplotypes are related to blood pressure elevation, but not to resistance to antihypertensive drug therapy		163729		CDC	2006												
152025	Y	high-altitude pulmonary edema	OTHER	OTH	Pulmonary Edema|Genetic Predisposition to Disease|Anoxia	7	7q36	NOS3	150319079	150342609		Ahsan, A.  et al. 2006	17099031				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Chest    2006    130(5)    1511-9	Heterozygotes of NOS3 Polymorphisms Contribute to Reduced Nitrogen Oxides in High-Altitude Pulmonary Edema		163729		CDC	2006	Reduced NOx and combination of heterozygotes associate with the susceptibility to HAPE.											
152027	Y	metabolic syndrome	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X|Hypertriglyceridemia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Gonzalez-Sanchez, J. L.  et al. 2006	17110473				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Chem    2006	Endothelial Nitric Oxide Synthase Haplotypes Are Associated with Features of Metabolic Syndrome		163729		CDC	2006	Our results suggest that genetic variation at the eNOS locus is associated with features of metabolic syndrome, and might represent a new genetic susceptibility component for insulin resistance, hypertriglyceridemia, and low HDL-cholesterol concentrations.											
152028		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Medica, I.  et al. 2006	17112651				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Eur J Obstet Gynecol Reprod Biol    2006	Genetic polymorphisms in vasoactive genes and preeclampsia		163729		CDC	2006												
152029	Y	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	7	7q36	NOS3	150319079	150342609		Borroni, B.  et al. 2006	17115991	Asp298			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Headache    2006    46(10)    1575-9	Endothelial Nitric Oxide Synthase (Glu298Asp) Polymorphism is an Independent Risk Factor for Migraine with Aura		163729		CDC	2006	Homozygous Asp298, a common variant of the eNOS gene, is an independent risk factor for MA in this study population.											
152030		blood pressure, arterial homocysteine	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Rodriguez Esparragon, F. J.  et al. 2006	17117898				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nefrologia    2006    26(5)    559-63	Arterial blood pressure variations		163729		CDC	2006	Our results showed a modulating effect of the NOS3 4a/b gene variant on tHcy concentrations that is at least partially provoked by discrete blood pressure increments. Nevertheless, our multivariate analysis did not show a statistical significant role for the NOS3 G894T gene polymorphism on tHcy concentrations.											
152032	Y	cholesterol cholesterol, LDL fibrinogen lipoprotein myocardial infarct nitrate triglycerides	METABOLIC	MET	Myocardial Infarction	7	7q36	NOS3	150319079	150342609		Sampaio, M. F.  et al. 2006	17126309				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Chim Acta    2006	AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults		163729		CDC	2006	Our data suggest NOS3 and FGB polymorphisms are associated with AMI.											
152033		radiotoxicity	OTHER	OTH	Breast Neoplasms	7	7q36	NOS3	150319079	150342609		Ahn, J.  et al. 2006	17145829				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			Clin Cancer Res    2006    12(23)    7063-70	Polymorphisms in Genes Related to Oxidative Stress (CAT, MnSOD, MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer		163729		CDC	2006	Associations between BMI and radiotoxicity risk may be most apparent among women with genotypes related to higher levels of oxidative stress.		body mass									
152035		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Tangurek, B.  et al. 2006	17151815				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish		CDC GDP info	4846	Hs.511603			Heart Vessels    2006    21(5)    285-290	The relationship between endothelial nitric oxide synthase gene polymorphism (T-786 C) and coronary artery disease in the Turkish population		163729		CDC	2006												
152036	Y	heart rate	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Ma, H.  et al. 2006	17160951				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    670-2	The relationship between resting heart rate and single nucleotide polymorphism at 3 sites of nitric oxide synthase gene in the Chinese Han nationality population.		163729		CDC	2006	The resting heart rate of Chinese Han nationality population with mutated genotype GG of NOS3 -922A/G and with mutated genotype TT of NOS3 894G/T were lower than those with wild genotype of NOS3 -922A/G and NOS3 894G/T. The finding suggests that resting heart rate is associated with SNP of NOS3 -922A/G and NOS3 894G/T.											
152037	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemia	7	7q36	NOS3	150319079	150342609		Berger, K.  et al. 2006	17165044	NOS3  glu298asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	German		CDC GDP info	4846	Hs.511603			Hum Genet    2006	The glu298asp polymorphism in the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case-control studies		163729		CDC	2006												
152038	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	7	7q36	NOS3	150319079	150342609		Huerta, C.  et al. 2007	17174475				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Neurosci Lett    2007    413(3)    202-5	No association between Parkinson's disease and three polymorphisms in the eNOS, nNOS, and iNOS genes		163729		CDC	2007												
152040		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Hu, C. J.  et al. 2007	17243909				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		Taiwan	CDC GDP info	4846	Hs.511603			Clin Chem Lab Med    2007    45(1)    20-5	Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases		163729		CDC	2007	This community-based study reveals that genetic factors might play a role in the metabolism of lipids. The genetic risk for CVDs needs further investigation.											
152041		breast cancer	CANCER	CAN	Breast Neoplasms	7	7q36	NOS3	150319079	150342609		Yang, J.  et al. 2007	17259657				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Carcinogenesis    2007	Relationships between polymorphisms in NOS3 and MPO genes, cigarette smoking, and risk of postmenopausal breast cancer		163729		CDC	2007			smoking (tobacco)									
152042	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lee, K. M.  et al. 2007	17262178				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Korean		CDC GDP info	4846	Hs.511603			Breast Cancer Res Treat    2007	Genetic polymorphisms of NOS3 are associated with the risk of invasive breast cancer with lymph node involvement		163729		CDC	2007												
152044	Y	heart period signal	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Ma, H.  et al. 2005	17282736				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Conf Proc IEEE Eng Med Biol Soc    2005    3    2463-6	Association of the spectral features of heart period signal with SNP of NOS in the Chinese Han nationality population		163729		CDC	2005												
152045	Y	pregnancy loss, recurrent	REPRODUCTION	REP		7	7q36	NOS3	150319079	150342609		Fan, W.  et al. 2007	17285538				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    23-6	Association of genetic polymorphisms in endothelial nitric oxide osynthase 3 gene with recurrent early spontaneous abortion.		163729		CDC	2007	The genetic polymorphism of NOS3 gene 27 bp VNTR was associated with RESA.											
152046		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Salimi, S.  et al. 2006	17287556			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Iranian		CDC GDP info	4846	Hs.511603			Indian J Med Res    2006    124(6)    683-8	Endothelial nitric oxide synthase gene intron4 VNTR polymorphism in patients with coronary artery disease in Iran		163729		CDC	2006	Though the genotype frequencies for eNOS4b/b, eNOS4a/b and eNOS4a/a, also \a\ allele frequency differed significantly between the CAD patients and controls, this polymorphism was not an independent risk factor for the development of CAD in Iranian patients. Further studies with larger samples need to be done to confirm these findings.											
152047	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Jia, C.  et al. 2007	17289126	NOS3  T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Asian		CDC GDP info	4846	Hs.511603			Thromb Res    2007	Joint effects of eNOS gene T-786C and ADH2 Arg47His polymorphisms on the risk of premature coronary artery disease		163729		CDC	2007	The mutant genotypes of eNOS gene T-786C mutation and the fast form of ADH2 Arg47His polymorphism had an additive interaction on the risk of premature CAD in Chinese population. Further investigations with big sample size are necessary for confirming this additive interaction.			ADH1B	ADH1B  Arg47His	NOS3	NOS3  T-786C					
152048	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	7	7q36	NOS3	150319079	150342609		Nakao, K.  et al. 2007	17296902				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Arch Ophthalmol    2007    125(2)    246-51	Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease		163729		CDC	2007	The manganese SOD Val16 allele is associated with$$$ the development of BD in Japan.											
152050		diabetes, type 2 hypertension nitrite/nitrate concentrations	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Sandrim, V. C.  et al. 2007	17306574				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nitric Oxide    2007	Influence of eNOS haplotypes on the plasma nitric oxide products concentrations in hypertensive and type 2 diabetes mellitus patients		163729		CDC	2007												
152051	Y	arterial disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Diabetic Angiopathies|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Zineh, I.  et al. 2007	17327342	NOS3  -786T-->C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Diabetes Care    2007    30(3)    689-693	NOS3 Polymorphisms Are Associated With Arterial Stiffness in Children With Type 1 Diabetes		163729		CDC	2007	This is the first reported association between -786T-->C and arterial stiffness in type 1 diabetes. Larger studies are needed to confirm this observation for potential translation to risk assessment.											
152052	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Ormezzano, O.  et al. 2007	17330057				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hum Hypertens    2007	Association of eNOS Glu298Asp gene polymorphism with circadian blood pressure rhythm		163729		CDC	2007												
152053		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	7	7q36	NOS3	150319079	150342609		Kankova, K.  et al. 2007	17345061				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach		163729		CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
152055			CANCER	CAN	Neoplasms|Inflammation	7	7q36	NOS3	150319079	150342609		Huang, H. Y.  et al. 2007	17355643				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	African American;Caucasian		CDC GDP info	4846	Hs.511603			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		163729		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
152056		thrombosis, vascular access	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Thrombosis|Thrombophilia|Genetic Predisposition to Disease|Graft Occlusion, Vascular	7	7q36	NOS3	150319079	150342609		Basaran, O.  et al. 2007	17365407			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish		CDC GDP info	4846	Hs.511603			J Invest Surg    2007    20(1)    49-53	Endothelial Nitric Oxide Synthase Gene Intron 4 (VNTR) Polymorphism and Vascular Access Graft Thrombosis		163729		CDC	2007												
152057		enuresis, primary nocturnal	OTHER	OTH		7	7q36	NOS3	150319079	150342609		Balat, A.  et al. 2007	17365914				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish		CDC GDP info	4846	Hs.511603			Ren Fail    2007    29(1)    79-83	Nitric oxide synthase gene polymorphisms in children with primary nocturnal enuresis		163729		CDC	2007												
152058	Y	peripheral vascular disease	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Kullo, I. J.  et al. 2007	17367796				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	non-Hispanic		CDC GDP info	4846	Hs.511603			Atherosclerosis    2007	Association of polymorphisms in NOS3 with the ankle-brachial index in hypertensive adults		163729		CDC	2007	specific NOS3 SNPs and haplotypes were associated with inter-individual variation in ABI, a non-invasive marker of peripheral arterial disease, in replicate subsets of hypertensive subjects. These findings motivate further investigation of the role of NOS3 variants in determining susceptibility to peripheral arterial disease.											
152060		arterial disease	CARDIOVASCULAR	CARD	Atherosclerosis	7	7q36	NOS3	150319079	150342609		Mitchell, G. F.  et al. 2007	17404185				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Hypertension    2007	Vascular Stiffness and Genetic Variation at the Endothelial Nitric Oxide Synthase Locus. The Framingham Heart Study		163729		CDC	2007												
152061		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	7	7q36	NOS3	150319079	150342609		Elliott, L.  et al. 2007	17408468				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		163729		CDC	2007												
152062	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Morray, B.  et al. 2007	17437735				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Cardiol    2007    99(8)    1100-5	Polymorphisms in the paraoxonase and endothelial nitric oxide synthase genes and the risk of early-onset myocardial infarction		163729		CDC	2007	our findings suggest that high-risk genotypes of the PON1 Q192R and eNOS E298D polymorphisms are independently associated with a significantly earlier occurrence of coronary events.											
152064	Y	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		van der Linden, I. J.  et al. 2007	17479212				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hum Genet    2007	The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk		163729		CDC	2007			homocysteine									
152065		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Deng, F.  et al. 2007	17492127			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Acta Biochim Biophys Sin (Shanghai)    2007    39(5)    311-6	Endothelial Nitric Oxide Synthase Gene Intron 4, 27 bp Repeat Polymorphism and Essential Hypertension in the Kazakh Chinese Population		163729		CDC	2007												
152067		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Benedetto, C.  et al. 2007	17520398				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Acta Obstet Gynecol Scand    2007    86(6)    678-82	Synergistic effect of renin-angiotensin system and nitric oxide synthase genes polymorphisms in pre-eclampsia		163729		CDC	2007												
152068	N	atrial fibrillation homocysteine	CHEMDEPENDENCY	CHEM		7	7q36	NOS3	150319079	150342609		Giusti, B.  et al. 2007	17551576				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			PLoS ONE    2007    2    e495	Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility		163729		CDC	2007	Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination.											
152069		retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		Uthra, S.  et al. 2007	17558849			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Ophthalmic Genet    2007    28(2)    77-81	Intron 4 VNTR of Endothelial Nitric Oxide Synthase (eNOS) Gene and Diabetic Retinopathy in Type 2 Patients in Southern India		163729		CDC	2007												
152070	N	albuminuria blood pressure, arterial body mass endothelial function glucose lipids metabolic syndrome renal function	METABOLIC	MET	Albuminuria|Hypertension|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Dell'omo, G.  et al. 2007	17563560				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hypertens    2007    25(7)    1389-1395	Lack of association between endothelial nitric oxide synthase gene polymorphisms, microalbuminuria and endothelial dysfunction in hypertensive men		163729		CDC	2007	eNOS polymorphisms apparently play no role in promoting hypertensive renal damage, and do not influence endothelial-mediated vasodilatation in never-treated men with essential hypertension.											
152071	Y	suicide	PSYCH	PSY		7	7q36	NOS3	150319079	150342609		Rujescu, D.  et al. 2007	17579350				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian;German		CDC GDP info	4846	Hs.511603			Am J Med Genet B Neuropsychiatr Genet    2007	NOS-I and -III gene variants are differentially associated with facets of suicidal behavior and aggression-related traits		163729		CDC	2007	our study suggests a possible involvement of NOS-I and NOS-III gene variants in suicidal behavior and related intermediate phenotypes. (c) 2007 Wiley-Liss, Inc.											
152072	Y	atherosclerosis, carotid intima media thickness	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Atherosclerosis	7	7q36	NOS3	150319079	150342609		Spoto, B.  et al. 2007	17586410	G894T and T-786C			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Hypertens    2007    20(7)    758-63	An additive effect of endothelial nitric oxide synthase gene polymorphisms contributes to the severity of atherosclerosis in patients on dialysis		163729		CDC	2007	In patients on dialysis the risk alleles of G894T and T-786C polymorphisms of the eNOS gene are associated with carotid atherosclerosis. The additive effect of the two polymorphisms may contribute to the severity of atherosclerosis independently of other risk factors and of endogenous substances that influence the NO synthesis in this population.											
152073	N	stroke	CARDIOVASCULAR	CARD		7	7q36	NOS3	150319079	150342609		Henskens, L. H.  et al. 2007	17586411				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Hypertens    2007    20(7)    764-70	Renin-Angiotensin system and nitric oxide synthase gene polymorphisms in relation to stroke		163729		CDC	2007	In the presence of other coexisting risk factors the AGTR1 A(1166)C but not the NOS3 G(894)T polymorphism increased the risk of stroke.		blood pressure									
152074	Y	hypertension,response to exercise	CARDIOVASCULAR	CARD	Hypertension	7	7q36	NOS3	150319079	150342609		Kim, J. S.  et al. 2007	17594145				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Yonsei Med J    2007    48(3)    389-95	Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism is Associated with Hypertensive Response to Exercise in Well-Controlled Hypertensive Patients		163729		CDC	2007	In our study, eNOS Glu298Asp polymorphism was significantly associated with HRE.											
152075	N	suicide	PSYCH	PSY		7	7q36	NOS3	150319079	150342609		Saiz, P. A.  et al. 2007	17605790				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Behav Brain Funct    2007    3(1)    32	Lack of association between endothelial nitric oxide synthase (NOS3) gene polymorphisms and suicide attempts		163729		CDC	2007	Our data do not support the hypothesis that genetically determined changes in the NOS3 gene confer increased susceptibility for suicidal behavior.											
152076	N	atherosclerosis, coronary endothelial function hypercholesterolemia lipids	CARDIOVASCULAR	CARD	Coronary Disease	7	7q36	NOS3	150319079	150342609		Kiliszek, M.  et al. 2007	17617024				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Chem Lab Med    2007    45(7)    839-42	A1166C polymorphism of the angiotensin AT1 receptor (AT1R) gene alters endothelial response to statin treatment		163729		CDC	2007	The C allele of AT1R A1166C is associated with$$$ significantly lower endothelial response to statin treatment.											
152077	Y	leukemia	CANCER	CAN	Leukemia, T-cell, Acute|Leukemia-Lymphoma, Adult T-Cell	9		NOTCH1	138508716	138560059		Zhu, Y. M.  et al. 2006	16707600				Notch homolog 1, translocation-associated (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017617.2			CDC GDP info	4851	Hs.495473			Clin Cancer Res    2006    12(10)    3043-3049	NOTCH1 Mutations in T-Cell Acute Lymphoblastic Leukemia		190198		CDC	2006	NOTCH1 mutation is an important prognostic marker in T-ALL and its predictive value could be even further increased if coevaluated with other T-cell-related regulatory genes. NOTCH pathway thus acts combinatorially with oncogenic transcriptional factors on T-ALL pathogenesis.											
152079		migraine	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	19	19p13.2-p13.1	NOTCH3	15131443	15172792			16426270				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1		Germany	CDC GDP info	4854	Hs.8546			Cephalalgia    2006    26(2)    158-61	Genetic variants of the NOTCH3 gene in migraine-a mutation analysis and association study		600276		CDC	2006												
152080	N	migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Borroni, B.  et al. 2006	16492242				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1			CDC GDP info	4854	Hs.8546			Headache    2006    46(2)    317-21	Investigating the association between Notch3 polymorphism and migraine		600276		CDC	2006	These findings support the view that functional polymorphism T6746C in Notch3 gene is not involved in increasing the risk of migraine or migraine subtypes.											
152081		schizophrenia	PSYCH	PSY	Schizophrenia	19	19p13.2-p13.1	NOTCH3	15131443	15172792		Passos Gregorio, S.  et al. 2006	16899352				Notch homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000435.1	Brazilian;Danish	Brazil|Denmark	CDC GDP info	4854	Hs.8546			Schizophr Res    2006    88(1-3)    275-82	Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects		600276		CDC	2006												
152083	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Wang, Z.  et al. 2006	16894623				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDP info	4855	Hs.436100			Am J Med Genet B Neuropsychiatr Genet    2006	A review and re-evaluation of an association between the NOTCH4 locus and schizophrenia		164951		CDC	2006												
152084	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Ivo, R.  et al. 2006	16969274				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3	German		CDC GDP info	4855	Hs.436100			Psychiatr Genet    2006    16(5)    197-203	No evidence for association between NOTCH4 and schizophrenia in a large family-based and case-control association analysis		164951		CDC	2006	Our results suggest that NOTCH4 is unlikely to play a major role in the genetic predisposition to schizophrenia in the German or the Palestinian-Arab population.											
152085	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Liu, C. M.  et al. 2006	17054719				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDP info	4855	Hs.436100			Genes Brain Behav    2006	Association evidence of schizophrenia with distal genomic region of NOTCH4 in Taiwanese families		164951		CDC	2006	we found modest association evidence between schizophrenia and the distal genomic region of NOTCH4 in this Taiwanese family sample.											
152087	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	6	6p21.3	NOTCH4	32270597	32299822		Shibata, N.  et al. 2007	17452726				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDP info	4855	Hs.436100			J Gerontol A Biol Sci Med Sci    2007    62(4)    350-1	Genetic association between notch4 polymorphisms and Alzheimer's disease in the Japanese population		164951		CDC	2007												
152088	Y	Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease|Disease Progression|Genetic Predisposition to Disease|Cognition Disorders	14	14q13.1	NP	20007404	20015086		Tumini, E.  et al. 2007	17221831	NP G51S			Nucleoside phosphorylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK126154			CDC GDP info	4860	Hs.75514			Hum Psychopharmacol    2007	The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients		164050		CDC	2007												
152089	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	2		NPAS2	100803044	100979719			16528748				Neuronal PAS domain protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002518.3			CDC GDP info	4862	Hs.156832			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		603347		CDC	2006												
152090		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin|Lymphoma, B-Cell|Genetic Predisposition to Disease	2		NPAS2	100803044	100979719		Zhu, Y.  et al. 2006	17096334				Neuronal PAS domain protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002518.3		Connecticut	CDC GDP info	4862	Hs.156832			Int J Cancer    2006	Ala394Thr polymorphism in the clock gene NPAS2		603347		CDC	2006												
152091	Y	autism	PSYCH	PSY	Autistic Disorder	2		NPAS2	100803044	100979719		Nicholas, B.  et al. 2007	17264841				Neuronal PAS domain protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002518.3			CDC GDP info	4862	Hs.156832			Mol Psychiatry    2007	Association of Per1 and Npas2 with autistic disorder		603347		CDC	2007												
152092		breast cancer	CANCER	CAN		2		NPAS2	100803044	100979719		Zhu, Y.  et al. 2007	17453337				Neuronal PAS domain protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002518.3			CDC GDP info	4862	Hs.156832			Breast Cancer Res Treat    2007	Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk		603347		CDC	2007												
152093	Y	cholesterol, LDL	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	7	7p13	NPC1L1	44518659	44547439		Hegele, R. A.  et al. 2005	16098225				NPC1 (Niemann-Pick disease, type C1, gene)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013389.1			CDC GDP info	29881	Hs.567486			Lipids Health Dis    2005    4    16	NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe		608010		CDC	2005	These preliminary pharmacogenetic results suggest that NPC1L1 variation is associated with inter-individual variation in response to ezetimibe treatment.		ezetimibe									
152094		cholesterol, LDL	METABOLIC	MET		7	7p13	NPC1L1	44518659	44547439		Cohen, J. C.  et al. 2006	16449388				NPC1 (Niemann-Pick disease, type C1, gene)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013389.1			CDC GDP info	29881	Hs.567486			Proc Natl Acad Sci U S A    2006	Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels		608010		CDC	2006												
152095		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	NPC2	74016395	74029837		Wollmer, M. A.  et al. 2007	17387528				Niemann-Pick disease, type C2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ896617	European		CDC GDP info	10577	Hs.433222			Neurogenetics    2007	Association study of cholesterol-related genes in Alzheimer's disease		601015		CDC	2007	genetic variants investigated in this study may be associated with a moderate modification of the risk for AD in some samples.											
152097	Y	Joubert syndrome nephronophthisis	NEUROLOGICAL	NEUR	Cerebellar Ataxia|Mental Retardation|Kidney Diseases, Cystic|Abnormalities, Multiple|Syndrome	2	2q13	NPHP1	110237192	110319883		Tory, K.  et al. 2007	17409309				Nephronophthisis 1 (juvenile)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000272.2			CDC GDP info	4867	Hs.280388			J Am Soc Nephrol    2007	High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis		607100		CDC	2007	NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS.											
152098		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	19	19q13.1	NPHS1	41008696	41034579		Mao, J.  et al. 2007	17211152				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1			CDC GDP info	4868	Hs.590942			Pediatr Res    2007    61(1)    117-22	NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome		602716		CDC	2007												
152099	Y	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Disease Progression|Genetic Predisposition to Disease	19	19q13.1	NPHS1	41008696	41034579		Hinkes, B. G.  et al. 2007	17371932				Nephrosis 1, congenital, Finnish type (nephrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004646.1	European	Europe	CDC GDP info	4868	Hs.590942			Pediatrics    2007	Nephrotic Syndrome in the First Year of Life		602716		CDC	2007	First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2).											
152100		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	1	1q25-q31	NPHS2	177786298	177811691		Mucha, B.  et al. 2006	16439601				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1			CDC GDP info	7827	Hs.412710			Pediatr Res    2006    59(2)    325-31	Mutations in the wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9		604766		CDC	2006												
152102		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	1	1q25-q31	NPHS2	177786298	177811691		Mao, J.  et al. 2007	17211152				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1			CDC GDP info	7827	Hs.412710			Pediatr Res    2007    61(1)    117-22	NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome		604766		CDC	2007												
152103	Y	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Disease Progression|Genetic Predisposition to Disease	1	1q25-q31	NPHS2	177786298	177811691		Hinkes, B. G.  et al. 2007	17371932				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1	European	Europe	CDC GDP info	7827	Hs.412710			Pediatrics    2007	Nephrotic Syndrome in the First Year of Life		604766		CDC	2007	First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2).											
152104	N	Henoch-Schonlein purpura	CARDIOVASCULAR	CARD	Nephritis|Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	1	1q25-q31	NPHS2	177786298	177811691		Zhang, Y.  et al. 2007	17393177				Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1			CDC GDP info	7827	Hs.412710			Arch Dermatol Res    2007	Lack of association between NPHS2 gene polymorphisms and Henoch-Schonlein purpura nephritis		604766		CDC	2007												
152106		atherosclerosis, coronary cholesterol, HDL lipoprotein	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Dedoussis, G. V.  et al. 2006	16721833				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		Greece	CDC GDP info	4878	Hs.75640			J Clin Lab Anal    2006    20(3)    98-104	Natriuretic peptide Val7Met substitution and risk of coronary artery disease in Greek patients with familial hypercholesterolemia		108780		CDC	2006												
152107	Y	left ventricular mass ventricular remodeling	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1p36.21	NPPA	11828362	11830422		Rubattu, S.  et al. 2006	16875975				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDP info	4878	Hs.75640			J Am Coll Cardiol    2006    48(3)    499-505	Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension		108780		CDC	2006	Our findings show that the ANP/NPRA system significantly contributes to ventricular remodeling in human essential hypertension.											
152108	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	1	1p36.21	NPPA	11828362	11830422		Carmichael, S. L.  et al. 2006	17036337				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDP info	4878	Hs.75640			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		108780		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
152109		gastroschisis	DEVELOPMENTAL	DEV	Gastroschisis|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Torfs, C. P.  et al. 2006	17051589				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDP info	4878	Hs.75640			Birth Defects Res A Clin Mol Teratol    2006    76(10)    723-730	Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis		108780		CDC	2006	These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.		smoking (tobacco), maternal									
152111		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypercholesterolemia hypertension hypertriglyceridemia obesity stroke	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1p36.21	NPPA	11828362	11830422		Hu, C. J.  et al. 2007	17243909				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1		Taiwan	CDC GDP info	4878	Hs.75640			Clin Chem Lab Med    2007    45(1)    20-5	Association between polymorphisms of ACE, B2AR, ANP and ENOS and cardiovascular diseases		108780		CDC	2007	This community-based study reveals that genetic factors might play a role in the metabolism of lipids. The genetic risk for CVDs needs further investigation.											
152112	Y	left ventricular hypertrophy	CARDIOVASCULAR	CARD		1	1p36.21	NPPA	11828362	11830422		Obineche, E. N.  et al. 2002	17259761				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDP info	4878	Hs.75640			Ann Saudi Med    2002    22(1-2)    22-5	Association between an ANF Gene I/D dimorphism and left ventricular hypertrophy in a Gulf Arab population		108780		CDC	2002	Our results do suggest that variants of the ANF gene might be involved in the determination of left ventricular hypertrophy.											
152114	N	left ventricular mass ventricular remodeling	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1p36.2	NPPB	11840107	11841579		Rubattu, S.  et al. 2006	16875975				Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2			CDC GDP info	4879	Hs.219140			J Am Coll Cardiol    2006    48(3)    499-505	Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension		600295		CDC	2006	Our findings show that the ANP/NPRA system significantly contributes to ventricular remodeling in human essential hypertension.											
152115	N	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1p36.2	NPPB	11840107	11841579		Chiu, C.  et al. 2006	17343213				Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2			CDC GDP info	4879	Hs.219140			DNA Seq    2006    17(5)    392-5	Mutation analysis of the natriuretic peptide precursor B (NPPB) gene in patients with hypertrophic cardiomyopathy		600295		CDC	2006	No disease causing mutations were identified in the NPPB gene in this cohort, indicating that mutations in this gene are unlikely to be responsible for HCM.											
152116	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p36.2	NPPB	11840107	11841579		Meirhaeghe, A.  et al. 2007	17412758				Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2	French		CDC GDP info	4879	Hs.219140			Hum Mol Genet    2007	Association between the T-381C polymorphism of the Brain Natriuretic Peptide gene and risk of type 2 diabetes in human populations		600295		CDC	2007												
152118	N	cardiac death diabetes, type 1 diabetic nephropathy mortality	CARDIOVASCULAR	CARD		1	1p36.2	NPPB	11840107	11841579		Lajer, M.  et al. 2007	17567649				Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2	Caucasian		CDC GDP info	4879	Hs.219140			Nephrol Dial Transplant    2007	Polymorphisms in the B-type natriuretic peptide (BNP) gene are associated with NT-proBNP levels but not with diabetic nephropathy or mortality in type 1 diabetic patients		600295		CDC	2007	The BNP -381T/C and 1551G/A polymorphisms are associated with circulating levels of NT-proBNP but not with prevalent overt diabetic nephropathy. These polymorphisms do not predict all-cause or cardiovascular mortality in Caucasian type 1 diabetic patients with or without diabetic nephropathy.											
152119	Y	left ventricular mass ventricular remodeling	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	1	1q21-q22	NPR1	151917736	151933088		Rubattu, S.  et al. 2006	16875975				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2			CDC GDP info	4881	Hs.490330			J Am Coll Cardiol    2006    48(3)    499-505	Association of atrial natriuretic peptide and type a natriuretic peptide receptor gene polymorphisms with left ventricular mass in human essential hypertension		108960		CDC	2006	Our findings show that the ANP/NPRA system significantly contributes to ventricular remodeling in human essential hypertension.											
152120	N	glaucoma	VISION	VIS	Glaucoma	1	1q21-q22	NPR1	151917736	151933088		Jeoung, J. W.  et al. 2007	17460430				Natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000906.2	Korean		CDC GDP info	4881	Hs.490330			Korean J Ophthalmol    2007    21(1)    33-8	Investigation of the Association between Normal-tension Glaucoma and Single Nucleotide Polymorphisms in Natriuretic Peptide Gene		108960		CDC	2007												
152121			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	5	5p14-p13	NPR3	32747421	32823011		Lee, J. K.  et al. 2003	12768436				Natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000908.2	Japanese;Caucasian;Korean		CDC GDP info	4883	Hs.237028			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		108962		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
152122		airway hyperresponsiveness, methacholine induced	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	7	7p14.3	NPSR1	34664421	34884469			16522461				Neuropeptide S receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY310326	Chinese;Korean		CDC GDP info	387129	Hs.652373			J Allergy Clin Immunol    2006    117(3)    612-7	G protein-coupled receptor 154 gene polymorphism is associated with airway hyperresponsiveness to methacholine in a Chinese population				CDC	2006	Our study supports a role of the GPR154 gene in asthma susceptibility and suggests that the AA homozygote of rs324981 is a protective factor for airway hyperresponsiveness to methacholine in a Chinese population.											
152123		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7p14.3	NPSR1	34664421	34884469		Malerba, G.  et al. 2007	17210045				Neuropeptide S receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY310326	Canadian;Finnish;French;Italian		CDC GDP info	387129	Hs.652373			Clin Exp Allergy    2007    37(1)    83-9	Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma				CDC	2007	These results support a susceptibility locus for asthma and related phenotypes on chromosome 7, and are in agreement with recent reports suggesting that a common susceptibility factor for atopic manifestations in asthma is likely conferred by the locus containing the GPR154 gene.											
152125	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q21.3-q22.1	NPTX2	98084544	98097116		Marui, T.  et al. 2007	17408830				Neuronal pentraxin II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC048275			CDC GDP info	4885	Hs.3281			Prog Neuropsychopharmacol Biol Psychiatry    2007	No association between the Neuronal Pentraxin II gene polymorphism and autism		600750		CDC	2007												
152126		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	7	7p15.1	NPY	24290333	24298002		Wang, H. S.  et al. 2005	16459651				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDP info	4852	Hs.1832			Yi Chuan Xue Bao    2005    32(12)    1235-40	Association study between NPY and YWHAH gene polymorphisms and schizophrenia		162640		CDC	2005												
152127	Y	body mass leptin obesity, localized	METABOLIC	MET	Weight Gain|Overweight	7	7p15.1	NPY	24290333	24298002		van Rossum, C. T.  et al. 2006	16568137				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDP info	4852	Hs.1832			Int J Obes (Lond)    2006	Polymorphisms in the NPY and AGRP genes and body fatness in Dutch adults		162640		CDC	2006	The consistent findings among men suggest that the NPY Leu7Pro polymorphism (or another linked marker) might be involved in the development of obesity at younger ages.											
152129	N	macular degeneration	VISION	VIS	Macular Degeneration	7	7p15.1	NPY	24290333	24298002		Kaarniranta, K.  et al. 2007	17305733	NPY Leu7Pro			Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDP info	4852	Hs.1832			Acta Ophthalmol Scand    2007    85(2)    188-191	Leucine 7-proline 7 polymorphism in the signal peptide of neuropeptide Y is not a risk factor for exudative age-related macular degeneration		162640		CDC	2007	Leu7Pro polymorphism in the signal peptide region of the human prepro-NPY is not a risk factor for exudative AMD.											
152130		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.1	NPY	24290333	24298002		Campbell, C. D.  et al. 2007	17325259				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	European		CDC GDP info	4852	Hs.1832			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		162640		CDC	2007												
152132		blood pressure, arterial cortisol glucose heart rate insulin leptin	CARDIOVASCULAR	CARD	Diabetes Mellitus, Type 2	7	7p15.1	NPY	24290333	24298002		Jaakkola, U.  et al. 2007	17516289				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Caucasian;Finnish		CDC GDP info	4852	Hs.1832			Exp Clin Endocrinol Diabetes    2007    115(5)    281-6	Impact of the Leu7Pro Polymorphism of preproNPY on Diurnal NPY and Hormone Secretion in Type 2 Diabetes		162640		CDC	2007												
152133	P		NORMALVARIATION	NV		7	7p15.1	NPY	24290333	24298002		Bhaskar, L. V.  et al. 2007	17554476				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	Indian		CDC GDP info	4852	Hs.1832			J Hum Genet    2007	Allelic variation in the NPY gene in 14 Indian populations		162640		CDC	2007												
152134		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q31.3-q32	NPY1R	164464511	164473198		Campbell, C. D.  et al. 2007	17325259				Neuropeptide Y receptor Y1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000909.4	European		CDC GDP info	4886	Hs.519057			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		162641		CDC	2007												
152135	Y	obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	4	4q31	NPY2R	156349230	156357678		Torekov, S. S.  et al. 2006	17019604	rs12649641, rs2342676 and rs6857530			Neuropeptide Y receptor Y2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000910.2	Danish		CDC GDP info	4887	Hs.37125			Diabetologia    2006    49(11)    2653-8	Variants in the 5' region of the neuropeptide Y receptor Y2 gene (NPY2R) are associated with obesity in 5,971 white subjects		162642		CDC	2006	 Common variants rs12649641, rs2342676 and rs6857530 in the 5\ region of NPY2R are associated with obesity in Danish white subjects.											
152137		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q31	NPY2R	156349230	156357678		Campbell, C. D.  et al. 2007	17325259				Neuropeptide Y receptor Y2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000910.2	European		CDC GDP info	4887	Hs.37125			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		162642		CDC	2007												
152138		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q31-q32	NPY5R	164484540	164492536		Campbell, C. D.  et al. 2007	17325259				Neuropeptide Y receptor Y5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006174.2	European		CDC GDP info	4889	Hs.519058			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		602001		CDC	2007												
152139	Y	dyslipidemia	METABOLIC	MET	Metabolic Syndrome X|Dyslipidemias|Genetic Predisposition to Disease	4	4q31-q32	NPY5R	164484540	164492536		Coletta, D. K.  et al. 2007	17426313				Neuropeptide Y receptor Y5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006174.2	Mexican;Mexican American		CDC GDP info	4889	Hs.519058			Obesity (Silver Spring)    2007    15(4)    809-15	Association of neuropeptide y receptor y5 polymorphisms with dyslipidemia in mexican americans		602001		CDC	2007												
152140			NORMALVARIATION	NV		16	16q22.1	NQO1	68300804	68318034		Hamajima, N.  et al. 2002	12164325				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		125860		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
152142	P		CANCER	CAN	Neoplasms	16	16q22.1	NQO1	68300804	68318034		Yoshimura, K.  et al. 2003	14634838				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		125860		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152143	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034			16520888				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		125860		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
152144		brain cancer	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		De Roos, A. J.  et al. 2006	16598069				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Neuro-oncol    2006    8(2)    145-55	Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors		125860		CDC	2006			smoking (tobacco)									
152146		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	16	16q22.1	NQO1	68300804	68318034		De Roos, A. J.  et al. 2006	16985026				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	non-Hispanic		CDC GDP info	1728	Hs.406515			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		125860		CDC	2006												
152147	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Mitrou, P. N.  et al. 2006	17082176				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Carcinogenesis    2006	Role of NQO1C609T and EPHX1 gene polymorphisms in the association of smoking and alcohol with sporadic distal colorectal adenomas		125860		CDC	2006			alcohol smoking (tobacco)									
152148			NORMALVARIATION	NV		16	16q22.1	NQO1	68300804	68318034		Lu, Y.  et al. 2006	17113562				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Chinese;Caucasian;Indian;Singapore		CDC GDP info	1728	Hs.406515			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		125860		CDC	2006												
152150		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	16	16q22.1	NQO1	68300804	68318034		Wan, J. X.  et al. 2006	17119198				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Ann N Y Acad Sci    2006    1076    129-36	Genetic polymorphism of toxicant-metabolizing enzymes and prognosis of chinese workers with chronic benzene poisoning		125860		CDC	2006												
152151		colorectal cancer	CANCER	CAN	Colonic Neoplasms	16	16q22.1	NQO1	68300804	68318034		Begleiter, A.  et al. 2006	17164365				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Canada	CDC GDP info	1728	Hs.406515			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2422-6	A NAD(P)H		125860		CDC	2006			alcohol smoking (tobacco)									
152152	Y	esophageal cancer	CANCER	CAN		16	16q22.1	NQO1	68300804	68318034		Zhang, W. C.  et al. 2006	17166422				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(5)    324-7	Relationship between quinone oxidoreductase1 gene ns-cSNP and genetic susceptibility of esophageal cancer.		125860		CDC	2006	The NQO1 C609T polymorphisms should likely be associated with the genetic susceptibility of esophageal cancer.											
152153		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Chen, Y.  et al. 2007	17178637				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Xenobiotica    2007    37(1)    103-12	Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations		125860		CDC	2007												
152155		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Jeannot, E.  et al. 2007	17363580				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		125860		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
152156		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Bolufer, P.  et al. 2007	17367411				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		125860		CDC	2007												
152157		brain cancer	CANCER	CAN	Brain Neoplasms	16	16q22.1	NQO1	68300804	68318034		Schwartzbaum, J. A.  et al. 2007	17372252				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2		Finland|England|Denmark|Sweden	CDC GDP info	1728	Hs.406515			Cancer Epidemiol Biomarkers Prev    2007    16(3)    559-65	An international case-control study of glutathione transferase and functionally related polymorphisms and risk of primary adult brain tumors		125860		CDC	2007	Overall, we observed no strong evidence for an association between GST or related enzyme polymorphisms and adult brain tumor risk.		smoking (tobacco)									
152158	N	liver injury, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Drug Toxicity|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Huang, Y. S.  et al. 2007	17400324				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			J Hepatol    2007	Genetic polymorphisms of manganese superoxide dismutase, NAD(P)H		125860		CDC	2007	The MnSOD mutant C allele may increase the susceptibility to DILI, and GSTM1 null genotype may be related to anti-tuberculosis drug-induced hepatotoxicity. Determination of the MnSOD and GSTM1 genotypes may help identify patients at high risk for DILI.											
152159	N	benzene toxicity	PHARMACOGENOMIC	PHARM		16	16q22.1	NQO1	68300804	68318034		Sun, P.  et al. 2007	17424838				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Wei Sheng Yan Jiu    2007    36(1)    11-5	Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning		125860		CDC	2007	The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.		smoking (tobacco)									
152161		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Dick, F.  et al. 2007	17449559				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	European		CDC GDP info	1728	Hs.406515			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		125860		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
152162	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	16	16q22.1	NQO1	68300804	68318034		Guillem, V. M.  et al. 2007	17476281				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		125860		CDC	2007												
152164		prostate cancer	CANCER	CAN	Prostatic Neoplasms	16	16q22.1	NQO1	68300804	68318034		Cunningham, J. M.  et al. 2007	17507624				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		125860		CDC	2007												
152165	Y	Barrett esophagus esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus|Esophagitis, Peptic|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		di Martino, E.  et al. 2007	17575500				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Genet Med    2007    9(6)    341-347	The NAD(P)H		125860		CDC	2007	Overall, the results of this study suggest that the NQO1 TT genotype may offer protection from reflux complications such as Barrett esophagus and esophageal adenocarcinoma.											
152167	N	cholelithiasis	METABOLIC	MET	Gallstones|Genetic Predisposition to Disease	11	11p11.2	NR1H3	47227042	47246972		Schafmayer, C.  et al. 2006	16941683				Nuclear receptor subfamily 1, group H, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122661	German		CDC GDP info	10062	Hs.438863			Hepatology    2006    44(3)    650-657	Investigation of the Lith1 candidate genes ABCB11 and LXRA in human gallstone disease				CDC	2006	in the investigated German sample, no evidence of association of ABCB11 and LXRA to gallstone susceptibility was detected.											
152168		cholesterol cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	11	11p11.2	NR1H3	47227042	47246972		Robitaille, J.  et al. 2007	17217555				Nuclear receptor subfamily 1, group H, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122661	Canadian;French	France	CDC GDP info	10062	Hs.438863			Br J Nutr    2007    97(1)    11-8	The lipoprotein/lipid profile is modulated by a gene-diet interaction effect between polymorphisms in the liver X receptor-alpha and dietary cholesterol intake in French-Canadians				CDC	2007			cholesterol									
152169	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	11	11p11.2	NR1H3	47227042	47246972		Nohara, A.  et al. 2007	17272748				Nuclear receptor subfamily 1, group H, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122661			CDC GDP info	10062	Hs.438863			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia				CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
152171	Y	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	3	3q12-q13.3	NR1I2	120982020	121020022		Dring, M. M.  et al. 2006	16472590				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2	Irish		CDC GDP info	8856	Hs.7303			Gastroenterology    2006    130(2)    341-348	The Pregnane X Receptor Locus Is Associated With Susceptibility to Inflammatory Bowel Disease		603065		CDC	2006	These results show that genetic variation in the PXR encoding gene, which has been associated with altered activity of PXR, is strongly associated with susceptibility to IBD, CD, and UC.											
152172		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	3	3q12-q13.3	NR1I2	120982020	121020022		Monzo, M.  et al. 2006	16507781				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2	French		CDC GDP info	8856	Hs.7303			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		603065		CDC	2006			chemotherapy									
152173		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	3	3q12-q13.3	NR1I2	120982020	121020022		Karlsen, T. H.  et al. 2006	16952547				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2	Scandinavian		CDC GDP info	8856	Hs.7303			Gastroenterology    2006    131(3)    781-7	Polymorphisms in the steroid and xenobiotic receptor gene influence survival in primary sclerosing cholangitis		603065		CDC	2006	Functional SXR gene variants appear to modify disease course in PSC.											
152174		warfarin sensitivity	PHARMACOGENOMIC	PHARM		3	3q12-q13.3	NR1I2	120982020	121020022		Wadelius, M.  et al. 2006	17048007				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2			CDC GDP info	8856	Hs.7303			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		603065		CDC	2006												
152176	P		NORMALVARIATION	NV	Colonic Neoplasms	3	3q12-q13.3	NR1I2	120982020	121020022		King, C. R.  et al. 2007	17404718				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2	European		CDC GDP info	8856	Hs.7303			Eur J Clin Pharmacol    2007	Identification of NR1I2 genetic variation using resequencing		603065		CDC	2007	With NR1I2 playing such a large role in the regulation of genes involved in drug metabolism and transport, genetic variation contributing to altered NR1I2 function may have an important clinical impact.											
152177		sex hormones	METABOLIC	MET		3	3q12-q13.3	NR1I2	120982020	121020022		Low, Y. L.  et al. 2007	17507630				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2			CDC GDP info	8856	Hs.7303			Cancer Epidemiol Biomarkers Prev    2007    16(5)    1009-16	Phytoestrogen Exposure Is Associated with Circulating Sex Hormone Levels in Postmenopausal Women and Interact with ESR1 and NR1I2 Gene Variants		603065		CDC	2007	phytoestrogens modulate sex hormone and SHBG levels in postmenopausal women and interact with gene variants involved in estrogen signaling.		phytoestrogens									
152178	P		CANCER	CAN	Neoplasms	5	5q31	NR3C1	142637688	142795270		Yoshimura, K.  et al. 2003	14634838				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		138040		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152179		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	5	5q31	NR3C1	142637688	142795270		Smith, A. K.  et al. 2006	16610949				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Pharmacogenomics    2006    7(3)    387-394	Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue		138040		CDC	2006												
152180		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	5	5q31	NR3C1	142637688	142795270		Goertzel, B. N.  et al. 2006	16610957				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Pharmacogenomics    2006    7(3)    475-83	Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome		138040		CDC	2006	The fact that only 28 out of several million possible SNPs predict whether a person has CFS with 76% accuracy indicates that CFS has a genetic component that may help to explain some aspects of the illness.											
152182	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	5	5q31	NR3C1	142637688	142795270		Xin, X.  et al. 2006	16648810				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1		China	CDC GDP info	2908	Hs.122926			Neuro Endocrinol Lett    2006    27(1-2)	Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls		138040		CDC	2006	Among these six activity SNPs in five candidate genes, IRS-1 972R was statistically associated with the onset time of puberty in Chinese girls. In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time.											
152183	N	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipoproteinemia Type II	5	5q31	NR3C1	142637688	142795270		Koeijvoets, K. C.  et al. 2006	16849409				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			J Clin Endocrinol Metab    2006	A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia		138040		CDC	2006	In this large cohort of individuals with very high risk of cardiovascular disease, the association between the functional ER22/23EK polymorphism and cardiovascular risk was not significant overall, although it varied significantly by gender.											
152184	Y	metabolic syndrome obesity	METABOLIC	MET	Obesity	5	5q31	NR3C1	142637688	142795270		Syed, A. A.  et al. 2006	16855182				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Obesity (Silver Spring)    2006    14(5)    759-764	Association of Glucocorticoid Receptor Polymorphism A3669G in Exon 9{beta} with Reduced Central Adiposity in Women		138040		CDC	2006												
152185		birth weight cortisol diabetes, type 2 glucose tolerance	METABOLIC	MET	Glucose Intolerance|Birth Weight	5	5q31	NR3C1	142637688	142795270		Rautanen, A.  et al. 2006	16895953				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			J Clin Endocrinol Metab    2006    91(11)    4544-51	Associations of body size at birth with late-life cortisol concentrations and glucose tolerance are modified by haplotypes of the glucocorticoid receptor gene		138040		CDC	2006	A common GR haplotype may contribute to and modify the association of short length at birth with adult glucose tolerance and HPAA function by a mechanism that affects regulation of GR expression.		birth length									
152186		cognitive function depression	PSYCH	PSY		5	5q31	NR3C1	142637688	142795270		Kuningas, M.  et al. 2006	17133261				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Neuropsychopharmacology    2006	Mental Performance in Old Age Dependent on Cortisol and Genetic Variance in the Mineralocorticoid and Glucocorticoid Receptors		138040		CDC	2006	the MR-I180V SNP has a specific effect on depressive symptoms, independent from cognitive functioning, and other polymorphisms in the MR and GR genes. In contrast, these genetic variants in the MR and GR genes do not influence cognitive functioning in old age.											
152187		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Squamous Cell|Skin Neoplasms	5	5q31	NR3C1	142637688	142795270		Patel, A. S.  et al. 2007	17392827				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	Caucasian		CDC GDP info	2908	Hs.122926			J Invest Dermatol    2007	Gene-Drug Interaction at the Glucocorticoid Receptor Increases Risk of Squamous Cell Skin Cancer		138040		CDC	2007			steroids									
152188		smoking behavior	CHEMDEPENDENCY	CHEM	Asthma|Pulmonary Disease, Chronic Obstructive|Tobacco Use Disorder	5	5q31	NR3C1	142637688	142795270		Rogausch, A.  et al. 2007	17407502				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	Caucasian;German		CDC GDP info	2908	Hs.122926			Addict Biol    2007    12(1)    93-9	Association between the BclI glucocorticoid receptor polymorphism and smoking in a sample of patients with obstructive airway disease		138040		CDC	2007	this study provides evidence that the BclI polymorphism might play a role in the maintenance and severity of nicotine dependence.											
152189	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	5	5q31	NR3C1	142637688	142795270		Klotsman, M.  et al. 2007	17460547				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1			CDC GDP info	2908	Hs.122926			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		138040		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
152190	Y	breast cancer endometriosis uterine fibroids	CANCER	CAN	Leiomyoma|Breast Neoplasms|Endometriosis|Genetic Predisposition to Disease	5	5q31	NR3C1	142637688	142795270		Govindan, S.  et al. 2007	17522428				Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018074.1	Indian;Asian		CDC GDP info	2908	Hs.122926			Cancer Biomark    2007    3(2)    73-8	Association of progesterone receptor gene polymorphism (PROGINS) with endometriosis, uterine fibroids and breast cancer		138040		CDC	2007												
152191		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4q31.1	NR3C2	149219369	149582973		Munoz-Brauning, C. R.  et al. 2005	16446868				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDP info	4306	Hs.163924			Rev Med Chil    2005    133(12)    1415-23	Microsatellite marker AGAT of the mineralocorticoid receptor gene is associated with plasma renin activity in patients with essential hypertension.		600983		CDC	2005	These results show association between the length of the AGAT repeat with the PRA in HT, suggesting a plausible role in the control of the MR gene expression, and secondarily in the regulation of blood pressure.											
152192		aldosterone cortisol heart rate sodium, urinary stress	METABOLIC	MET		4	4q31.1	NR3C2	149219369	149582973		Derijk, R. H.  et al. 2006	17018659				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDP info	4306	Hs.163924			J Clin Endocrinol Metab    2006	A common polymorphism in the mineralocorticoid receptor modulates stress responsiveness		600983		CDC	2006	The findings reveal that cortisol and heart rate responses to a psychosocial stressor are enhanced in carriers of the MR180V variant.											
152193		cognitive function depression	PSYCH	PSY		4	4q31.1	NR3C2	149219369	149582973		Kuningas, M.  et al. 2006	17133261				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1			CDC GDP info	4306	Hs.163924			Neuropsychopharmacology    2006	Mental Performance in Old Age Dependent on Cortisol and Genetic Variance in the Mineralocorticoid and Glucocorticoid Receptors		600983		CDC	2006	the MR-I180V SNP has a specific effect on depressive symptoms, independent from cognitive functioning, and other polymorphisms in the MR and GR genes. In contrast, these genetic variants in the MR and GR genes do not influence cognitive functioning in old age.											
152195		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4q31.1	NR3C2	149219369	149582973		Freitas, S. R.  et al. 2007	17334527				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1	Brazilian		CDC GDP info	4306	Hs.163924			Braz J Med Biol Res    2007    40(3)    309-16	Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension		600983		CDC	2007												
152196		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2q22-q23	NR4A2	156889194	156897446			16532445				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDP info	4929	Hs.563344			Mov Disord    2006	Translated mutation in the Nurr1 gene as a cause for Parkinson's disease		601828		CDC	2006												
152197		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Healy, D. G.  et al. 2006	16977628				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2	Caucasian		CDC GDP info	4929	Hs.563344			Mov Disord    2006	NR4A2 genetic variation in sporadic Parkinson's disease		601828		CDC	2006												
152198		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q22-q23	NR4A2	156889194	156897446		Chen, C. M.  et al. 2007	17427185				Nuclear receptor subfamily 4, group A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006186.2			CDC GDP info	4929	Hs.563344			Am J Med Genet B Neuropsychiatr Genet    2007	Nuclear receptor NR4A2 IVS6 +18insG and brain derived neurotrophic factor (BDNF) V66M polymorphisms and risk of Taiwanese parkinson's disease		601828		CDC	2007												
152199	Y	cryptorchidism	DEVELOPMENTAL	DEV	Cryptorchidism	9	9q33	NR5A1	126283335	126309520		Wada, Y.  et al. 2006	16500365				Nuclear receptor subfamily 5, group A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004959.3			CDC GDP info	2516	Hs.495108			Fertil Steril    2006    85(3)    787-90	Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1		184757		CDC	2006												
152200	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	9	9q33	NR5A1	126283335	126309520		Liu, W.  et al. 2006	16564598	SF-1 Gly146Ala			Nuclear receptor subfamily 5, group A, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004959.3			CDC GDP info	2516	Hs.495108			Diabetes Res Clin Pract    2006	The Gly146Ala variation in human SF-1 gene		184757		CDC	2006	The SF-1 Gly146Ala variation may constitute a susceptible factor for development of type 2 diabetes and impairment of insulin actions.											
152203		leukemia, myeloid myelodysplastic syndrome	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Disease Progression	1	1p13.2	NRAS	115051107	115061038		Bacher, U.  et al. 2007	17550846				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDP info	4893	Hs.486502			Haematologica    2007    92(6)    744-52	A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia		164790		CDC	2007	The increase of molecular mutations from low- to high-risk MDS, to s-AML, and to relapsed AML emphasizes the value of these mutations as markers of progressing disease. Finally, we found a low rate of 5q- in the molecularly mutated cases in MDS which might explain the stability of this subtype.											
152204	Y	autism obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	7	7q31.1-q31.2	NRCAM	107575317	107884062		Sakurai, T.  et al. 2006	17106428				Neuronal cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001037132			CDC GDP info	4897	Hs.21422	obsessive compulsive subset of autism		Psychiatr Genet    2006    16(6)    251-257	Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors		601581		CDC	2006	Overtransmission of particular haplotypes of NrCAM, that may relate to the expression level of NrCAM in the brain, appeared to be associated with autism in the severe obsessive-compulsive behavior subset.											
152205	Y	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615			16520822				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	European		CDC GDP info	3084	Hs.453951			Mol Psychiatry    2006	Association of the NRG1 gene and schizophrenia		142445		CDC	2006												
152206	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615			16526041				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Korean		CDC GDP info	3084	Hs.453951			Am J Med Genet B Neuropsychiatr Genet    2006	Linkage and association of schizophrenia with genetic variations in the locus of neuregulin 1 in Korean population		142445		CDC	2006												
152207	N	psychosis, manic schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Walss-Bass, C.  et al. 2006	16638076				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Icelandic	Costa Rica	CDC GDP info	3084	Hs.453951			Acta Psychiatr Scand    2006    113(4)    314-21	Association analyses of the neuregulin 1 gene with schizophrenia and manic psychosis in a Hispanic population		142445		CDC	2006	These results suggest that the neuregulin 1 gene is unlikely to play a major role in predisposing to schizophrenia in the CVCR.											
152208	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Li, D.  et al. 2006	16687441				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Caucasian;Icelandic;Scottish;Asian		CDC GDP info	3084	Hs.453951			Hum Mol Genet    2006	Meta-analysis shows strong positive association of the neuregulin 1 (NRG1) gene with schizophrenia		142445		CDC	2006												
152210		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Georgieva, L.  et al. 2006	16891421				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			Proc Natl Acad Sci U S A    2006    103(33)    12469-74	Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia		142445		CDC	2006												
152211	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Watanabe, Y.  et al. 2007	17275115				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1		Japan	CDC GDP info	3084	Hs.453951			Neurosci Res    2007	No association between the ERBB3 gene and schizophrenia in a Japanese population		142445		CDC	2007												
152212	Y	schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Turunen, J. A.  et al. 2007	17300918				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Finnish	Finland	CDC GDP info	3084	Hs.453951			Schizophr Res    2007	The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland		142445		CDC	2007												
152213	N	cognitive function schizotypy	PSYCH	PSY	Schizotypal Personality Disorder|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Stefanis, N. C.  et al. 2007	17336946				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			Biol Psychiatry    2007	Impact of Schizophrenia Candidate Genes on Schizotypy and Cognitive Endophenotypes at the Population Level		142445		CDC	2007	The DTNP1 and, less so, NRG1 and DAAO variants might exert gene-specific modulating effects on schizophrenia endophenotypes at the population level.											
152214		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Hall, H.  et al. 2007	17366345				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		142445		CDC	2007												
152215	N	schizophrenia	PSYCH	PSY		8	8p21-p12	NRG1	31616809	32741615		Vilella, E.  et al. 2007	17408693				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			J Psychiatr Res    2007	Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction		142445		CDC	2007	these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes.											
152216	Y	atherosclerosis	CARDIOVASCULAR	CARD		8	8p21-p12	NRG1	31616809	32741615		Hintsanen, M.  et al. 2007	17447867				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			Ann Behav Med    2007    33(2)    148-55	Neuregulin-1 genotype moderates the association between job strain and early atherosclerosis in young men		142445		CDC	2007	Our results suggest that the effect of job strain on early atherosclerosis is dependent on NRG-1 genotype in men. Gene x Environment Interaction approach seems to offer important additional information in stress research.		stress									
152218	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	8	8p21-p12	NRG1	31616809	32741615		McInnes, L. A.  et al. 2007	17519028				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			BMC Psychiatry    2007    7(1)    21	The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica		142445		CDC	2007	The NRG1 exon 11 missense variant is not associated with autism in the CVCR.											
152220	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	5	5q23-q33	NRG2	142755391	142755436	0.12	Fan, B. J.  et al. 2007	17563728	IVS3+13A>G	Intron	other	Neuregulin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013982	Southern Chinese	Hong Kong	CDC GDP info	9542	Hs.408515	glaucoma, juvenile-onset		Mol Vis    2007    13    779-84	Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene	rs889022	603818		CDC	2007	The linkage interval for GLC1M was refined to a smaller region.	Case:92 unrelated JOAG patients;Control:92 control subjects without glaucoma										
152221	Y	schizophrenia	PSYCH	PSY		1	5q23-q33	NRG2	142755391	142755436		Benzel, I.  et al. 2007	17598910				Neuregulin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013982			CDC GDP info	9542	Hs.408515			Behav Brain Funct    2007    3(1)    31	Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia		603818		CDC	2007	These new findings suggest that observed associations between NRG1 and schizophrenia may be mediated through functional interaction not just with ERBB4, but with other members of the NRG and ERBB families.				NRG2		ERBB4					
152222	Y	schizophrenia	PSYCH	PSY		10	10q22-q23	NRG3	83625076	84735341		Benzel, I.  et al. 2007	17598910				Neuregulin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122886			CDC GDP info	10718	Hs.125119			Behav Brain Funct    2007    3(1)    31	Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia		605533		CDC	2007	These new findings suggest that observed associations between NRG1 and schizophrenia may be mediated through functional interaction not just with ERBB4, but with other members of the NRG and ERBB families.				NRG3		ERBB4					
152223	Y	schizophrenia	PSYCH	PSY		11	11q24	NRGN	124114951	124122309		Ruano, D.  et al. 2006	17140601				Neurogranin (protein kinase C substrate, RC3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM548510	Portuguese		CDC GDP info	4900	Hs.524116			J Psychiatr Res    2006	Association of the gene encoding neurogranin with schizophrenia in males		602350		CDC	2006												
152224	N	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	12	12p13.33	NRIP2	2804774	2814450		Nakashima, K.  et al. 2006	17075290				Nuclear receptor interacting protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036063			CDC GDP info	83714	Hs.530816			Allergol Int    2006    55(1)    77-83	Association of the RIP2 Gene with Childhood Atopic Asthma				CDC	2006	Although polymorphisms in RIP2 are not likely to be associated with the development of asthma, the genetic variants might contribute to asthma severity in the Japanese population.											
152226		nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	2	2p16.3	NRXN1	50000991	51113178		Bierut, L. J.  et al. 2007	17158188				Neurexin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB011150			CDC GDP info	9378	Hs.637685			Hum Mol Genet    2007    16(1)    24-35	Novel genes identified in a high-density genome wide association study for nicotine dependence		600565		CDC	2007												
152227		Sotos syndrome	DEVELOPMENTAL	DEV	Gigantism|Mental Retardation|Abnormalities, Multiple|Syndrome|Facies|Mental Disorders|Attention Deficit Disorder with Hyperactivity	5	5q35.2-q35.3	NSD1	176492631	176655369		de Boer, L.  et al. 2006	16780628				Nuclear receptor binding SET domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172349.1			CDC GDP info	64324	Hs.106861			Dev Med Child Neurol    2006    48(7)    582-8	Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome		606681		CDC	2006												
152228		Sotos syndrome	DEVELOPMENTAL	DEV	Abnormalities, Multiple|Syndrome	5	5q35.2-q35.3	NSD1	176492631	176655369		Saugier-Veber, P.  et al. 2007	17565729				Nuclear receptor binding SET domain protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172349.1			CDC GDP info	64324	Hs.106861			Hum Mutat    2007	Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome		606681		CDC	2007												
152229		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	12	12p13	NT3	5473526	5474726		Syed, Z.  et al. 2006	17192954				3'-nucleotidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002527			CDC GDP info	4908	Hs.99171			Am J Med Genet B Neuropsychiatr Genet    2006	An investigation of the neurotrophic factor genes GDNF, NGF, and NT3 in susceptibility to ADHD				CDC	2006												
152230		diabetes, type 2	METABOLIC	MET		1	1q21-q22	NTRK1	155052165	155118266		Ma, L.  et al. 2007	17261673				Neurotrophic tyrosine kinase, receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012331.1	Indian;Pima Indians		CDC GDP info	4914	Hs.406293			Diabetes    2007	Variants in ARHGEF11, a Candidate Gene for the Linkage to Type 2 Diabetes Mellitus on Chromosome 1q, Are Nominally Associated With Insulin Resistance and Type 2 Diabetes Mellitus in Pima Indians		191315		CDC	2007												
152232		alcohol abuse alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease|Antisocial Personality Disorder	9	9q22.1	NTRK2	86473285	86828325		Xu, K.  et al. 2007	17200667				Neurotrophic tyrosine kinase, receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007097.1	Caucasian;Finnish		CDC GDP info	4915	Hs.494312			Pharmacogenomics J    2007	Nucleotide sequence variation within the human tyrosine kinase B neurotrophin receptor gene		600456		CDC	2007												
152233		post-traumatic stress disorder suicide	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Stress Disorders, Post-Traumatic|Bipolar Disorder	9	9q22.1	NTRK2	86473285	86828325		Bremer, T.  et al. 2007	17570738				Neurotrophic tyrosine kinase, receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007097.1			CDC GDP info	4915	Hs.494312			Mol Diagn Ther    2007    11(3)    161-70	The Pharmacogenetics of Lithium Response Depends upon Clinical Co-Morbidity		600456		CDC	2007	These data support the idea that response to lithium has a multi-genetic etiology dependent upon manifestations of other clinical co-diagnoses.		lithium									
152234	P		CANCER	CAN	Neoplasms	7	7p22	NUDT1	2248382	2257306		Yoshimura, K.  et al. 2003	14634838				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDP info	4521	Hs.534331			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		600312		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152235		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	7	7p22	NUDT1	2248382	2257306		Zhang, Z. B.  et al. 2006	16600130				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDP info	4521	Hs.534331			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(3)    134-8	Relationship between genetic polymorphism in hMTH1c.83, hOGG1c.326 and hMYHc.335 and risks of chronic benzene poisoning.		600312		CDC	2006	Polymorphisms of hMTH1 Val83 Met and hOGG1 Ser326Cys may contribute to altered risks of CBP, and potential interaction may exist among polymorphisms of hOGG1 Ser326Cys and hMYH His335Gln.		smoking (tobacco)									
152236	Y	lung cancer	CANCER	CAN	Carcinoma, Small Cell|Lung Neoplasms	7	7p22	NUDT1	2248382	2257306		Kohno, T.  et al. 2006	16774934				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDP info	4521	Hs.534331			Carcinogenesis    2006	Association of polymorphisms in the MTH1 gene with small cell lung carcinoma risk		600312		CDC	2006												
152238		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Adenocarcinoma|Colorectal Neoplasms|Neoplasms, Multiple Primary	7	7p22	NUDT1	2248382	2257306		Kim, J. C.  et al. 2007	17252231				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3	Korean		CDC GDP info	4521	Hs.534331			Virchows Arch    2007	MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas		600312		CDC	2007												
152239		colorectal cancer	CANCER	CAN	Colonic Neoplasms	7	7p22	NUDT1	2248382	2257306		Schafmayer, C.  et al. 2007	17417778				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3	German		CDC GDP info	4521	Hs.534331			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		600312		CDC	2007												
152240	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q13	NUMA1	71391558	71469221		Cox, A. et al  et al. 2007	17293864				Nuclear mitotic apparatus protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=Z11584			CDC GDP info	4926	Hs.325978			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		164009		CDC	2007												
152242	Y	myopia	VISION	VIS	Myopia|Night Blindness	X	Xp11.4	NYX	41191630	41219907		Zhang, Q.  et al. 2007	17392683				Nyctalopin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ278865			CDC GDP info	60506	Hs.302019			Mol Vis    2007    13    330-6	Mutations in NYX of individuals with high myopia, but without night blindness		300278		CDC	2007	Mutations in NYX may cause high myopia without CSNB.											
152243	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q24.1	OAS1	111829121	111842095		Smyth, D. J.  et al. 2006	16644715				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2	Norwegian;Romanian		CDC GDP info	4938	Hs.524760			Diabetes    2006    55(5)    1525-1528	No Evidence for Association of OAS1 With Type 1 Diabetes in Unaffected Siblings or Type 1 Diabetic Cases		164350		CDC	2006												
152244	Y	severe acute respiratory syndrome	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	12	12q24.1	OAS1	111829121	111842095		He, J.  et al. 2006	16824203				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2			CDC GDP info	4938	Hs.524760			BMC Infect Dis    2006    6(1)    106	Association of SARS susceptibility with single nucleic acid polymorphisms of OAS1 and MxA genes		164350		CDC	2006	SNPs in the OAS1 3\-UTR and MxA promoter region appear associated with host susceptibility to SARS in Chinese Han population.											
152246	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	1	1q21.3	OAZ3	150002068	150010429			16542438				Ornithine decarboxylase antizyme 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK125876			CDC GDP info	51686	Hs.288936			BMC Med Genet    2006    7(1)    27	Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3				CDC	2006	Mutations in the OAZ3 gene are not a common cause of male infertility.											
152248		skin cancer risk factors	CANCER	CAN	Nevus, Pigmented|Melanosis	15	15q11.2-q12	OCA2	25673627	26018061		Duffy, D. L.  et al. 2007	17236130			Intron	Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1			CDC GDP info	4948	Hs.130937			Am J Hum Genet    2007    80(2)    241-52	A Three-Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation		203200		CDC	2007												
152249	P		NORMALVARIATION	NV		15	15q11.2-q12	OCA2	25673627	26018061		Yuasa, I.  et al. 2007	17568986				Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1	European		CDC GDP info	4948	Hs.130937			J Hum Genet    2007	OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations		203200		CDC	2007												
152250	P		NORMALVARIATION	NV		15	15q11.2-q12	OCA2	25673627	26018061		Yuasa, I.  et al. 2007	17570052				Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1	Asian		CDC GDP info	4948	Hs.130937			Biochem Genet    2007	Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes		203200		CDC	2007												
152251	Y	colorectal cancer	PHARMACOGENOMIC	PHARM	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms	2	2p25	ODC1	10497958	10505904		Barry, E. L.  et al. 2006	17047198				Ornithine decarboxylase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002539.1			CDC GDP info	4953	Hs.467701			J Natl Cancer Inst    2006    98(20)    1494-500	Ornithine decarboxylase polymorphism modification of response to aspirin treatment for colorectal adenoma prevention		165640		CDC	2006	ODC genotype may modify the response to aspirin treatment for colorectal adenoma prevention.		aspirin									
152253	P		NORMALVARIATION	NV		3	3p26.2	OGG1	9765704	9783342		Hamajima, N.  et al. 2002	12718576				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Japanese;Chinese;Caucasian;Korean		CDC GDP info	4968	Hs.380271			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		601982		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
152254	P		CANCER	CAN	Neoplasms	3	3p26.2	OGG1	9765704	9783342		Yoshimura, K.  et al. 2003	14634838				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		601982		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152255	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Zhang, Y.  et al. 2006	16492928				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Caucasian;Polish;Asian		CDC GDP info	4968	Hs.380271			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		601982		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
152257		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342			16543247				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		601982		CDC	2006												
152258		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Nock, N. L.  et al. 2006	16569655				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Caucasian		CDC GDP info	4968	Hs.380271			Carcinogenesis    2006	Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk		601982		CDC	2006												
152260		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	3	3p26.2	OGG1	9765704	9783342		Moreno, V.  et al. 2006	16609022				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		601982		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
152261		lung cancer	CANCER	CAN	Lung Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Lee, C. H.  et al. 2006	16615267				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		Korea	CDC GDP info	4968	Hs.380271			J Prev Med Pub Health    2006    39(2)    130-4	Effects of oxidative DNA damage and genetic polymorphism of the glutathione peroxidase 1 (GPX1) and 8-oxoguanine glycosylase 1 (hOGG1) on lung cancer		601982		CDC	2006	These results lead to a 											
152262	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Kohno, T.  et al. 2006	16800823				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Cancer Sci    2006	Association of the OGG1-Ser326Cys polymorphism with lung adenocarcinoma risk		601982		CDC	2006												
152263		stomach cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Poplawski, T.  et al. 2006	16843501				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Mutat Res    2006	DNA damage and repair in gastric cancer-A correlation with the hOGG1 and RAD51 genes polymorphisms		601982		CDC	2006												
152264	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		Kiyohara, C.  et al. 2006	16982113				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Caucasian		CDC GDP info	4968	Hs.380271			Lung Cancer    2006	Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk		601982		CDC	2006												
152265	Y	DNA repair	OTHER	OTH	DNA Damage	3	3p26.2	OGG1	9765704	9783342		Vodicka, P.  et al. 2006	17028303				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Carcinogenesis    2006	Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects		601982		CDC	2006				OGG1	OGG1 Ser326Cys	APE1	APE1 Asn148Glu					
152267		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Lan, Q.  et al. 2006	17149600				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		601982		CDC	2006												
152268		cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Wilding, C. S.  et al. 2006	17177211				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Environ Mol Mutagen    2006	Influence of polymorphisms at loci encoding DNA repair proteins on cancer susceptibility and G(2) chromosomal radiosensitivity		601982		CDC	2006												
152269		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Figueroa, J. D.  et al. 2007	17203305				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		601982		CDC	2007												
152270	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Liu, S.  et al. 2007	17207022				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4		China	CDC GDP info	4968	Hs.380271			Respirology    2007    12(1)    29-33	Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD		601982		CDC	2007												
152271		oral cancer	CANCER	CAN		3	3p26.2	OGG1	9765704	9783342		Gorgens, H.  et al. 2007	17207658				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Oral Oncol    2007	Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas		601982		CDC	2007												
152272	Y	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Karahalil, B.  et al. 2006	17214369				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Turkish		CDC GDP info	4968	Hs.380271			Anticancer Res    2006    26(6C)    4955-8	DNA repair gene polymorphisms and bladder cancer susceptibility in a Turkish population		601982		CDC	2006	Our data showed that OGG1 genetic polymorphisms might be useful as prognostic genetic markers for bladder cancer in the clinical setting.		smoking (tobacco)									
152274		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	3	3p26.2	OGG1	9765704	9783342		Li, D.  et al. 2007	17230526				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Int J Cancer    2007	Effects of base excision repair gene polymorphisms on pancreatic cancer survival		601982		CDC	2007												
152275	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|DNA Damage|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Coppede, F.  et al. 2006	17240059				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Neurosci Lett    2006	A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease		601982		CDC	2006												
152277		DNA damage	OTHER	OTH		3	3p26.2	OGG1	9765704	9783342		Guo, J. X.  et al. 2006	17313735				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    381-5	The relation of asbestosis to human 8-oxoguanine DNA glycosydase polymorphism and DNA damage in peripheral lymphocytes.		601982		CDC	2006	The results suggested that the asbestos occupational exposure might induce DNA damage and the augment on susceptivity of H2O2 oxidation and the fall of the capacity of repairing DNA damage might be one of the mechanisms to induce asbestosis among subjects with the Cys allele.											
152279		colorectal cancer	CANCER	CAN	Colonic Neoplasms	3	3p26.2	OGG1	9765704	9783342		Schafmayer, C.  et al. 2007	17417778				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	German		CDC GDP info	4968	Hs.380271			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		601982		CDC	2007												
152280	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Disease Progression|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Coppede, F.  et al. 2007	17531381				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Neurosci Lett    2007	Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis		601982		CDC	2007												
152281		lung cancer	CANCER	CAN	Lung Neoplasms	3	3p26.2	OGG1	9765704	9783342		De Ruyck, K.  et al. 2007	17531525				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Caucasian		CDC GDP info	4968	Hs.380271			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		601982		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
152283	N	obsessive compulsive disorder Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	21	21q22.11	OLIG1	33364442	33366596		Stewart, S. E.  et al. 2007	17283288				Oligodendrocyte transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC033290			CDC GDP info	116448	Hs.56663			Arch Gen Psychiatry    2007    64(2)    209-14	A Genetic Family-Based Association Study of OLIG2 in Obsessive-compulsive Disorder				CDC	2007	This is the first study reporting an association between OLIG2 and OCD, specifically when TD comorbidity is absent.											
152284		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	21	21q22.11	OLIG2	33320108	33323371		Georgieva, L.  et al. 2006	16891421				Oligodendrocyte lineage transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036245			CDC GDP info	10215	Hs.176977			Proc Natl Acad Sci U S A    2006    103(33)    12469-74	Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia		606386		CDC	2006												
152285		schizophrenia	PSYCH	PSY	Schizophrenia	21	21q22.11	OLIG2	33320108	33323371		Usui, H.  et al. 2006	17010574				Oligodendrocyte lineage transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036245			CDC GDP info	10215	Hs.176977			Schizophr Res    2006    88(1-3)    245-50	The 2',3'-cyclic nucleotide 3'-phosphodiesterase and oligodendrocyte lineage transcription factor 2 genes do not appear to be associated with schizophrenia in the Japanese population		606386		CDC	2006												
152286	Y	obsessive compulsive disorder Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	21	21q22.11	OLIG2	33320108	33323371		Stewart, S. E.  et al. 2007	17283288				Oligodendrocyte lineage transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036245			CDC GDP info	10215	Hs.176977			Arch Gen Psychiatry    2007    64(2)    209-14	A Genetic Family-Based Association Study of OLIG2 in Obsessive-compulsive Disorder		606386		CDC	2007	This is the first study reporting an association between OLIG2 and OCD, specifically when TD comorbidity is absent.											
152287	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12p13.2-p12.3	OLR1	10202165	10216057		Sentinelli, F.  et al. 2006	16829343	OLR1 the 3\-UTR C>T			Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2	Italian		CDC GDP info	4973	Hs.412484			Nutr Metab Cardiovasc Dis    2006    16(5)    345-52	The 3'-UTR C>T polymorphism of the oxidized LDL-receptor 1 (OLR1) gene does not associate with coronary artery disease in Italian CAD patients or with the severity of coronary disease		602601		CDC	2006	Our observations suggest that, in our population, the 3\-UTR C>T polymorphism of the OLR1 gene is unlikely to play a role in the pathogenesis of coronary artery disease.											
152288		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	12	12p13.2-p12.3	OLR1	10202165	10216057		Hattori, H.  et al. 2006	17022953				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDP info	4973	Hs.412484			Brain Res    2006	G501C polymorphism of oxidized LDL receptor gene (OLR1) and ischemic stroke		602601		CDC	2006												
152289	Y	C-reactive protein cardiovascular event lipids	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Thrombosis|Hypercholesterolemia	12	12p13.2-p12.3	OLR1	10202165	10216057		Puccetti, L.  et al. 2006	17050011				Oxidised low density lipoprotein (lectin-like) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002543.2			CDC GDP info	4973	Hs.412484			Int J Cardiol    2006	Lectin-like oxidized-LDL receptor-1 (LOX-1) polymorphisms influence cardiovascular events rate during statin treatment		602601		CDC	2006	In the studied population LOX-1 genetic variants influence cardiovascular risk reduction induced by statins also in patients not reaching the LDL target. The previously described LOX-1-related antithrombotic actions of both statins employed could have a specific role in what observed, suggesting a genetic influence in statins LDL-lowering partially related actions.		atorvastatin simvastatin									
152290		mental retardation, nonsyndromic	DEVELOPMENTAL	DEV	Mental Retardation	17	17q11.2	OMG	26645793	26648481			16425041				Oligodendrocyte myelin glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002544.3	Italian		CDC GDP info	4974	Hs.113874			Neurogenetics    2006        1-8	Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation		164345		CDC	2006												
152291	N	glaucoma, normal tension glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	3	3q28-q29	OPA1	194793805	194898009		Yao, W.  et al. 2006	16785854				Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			CDC GDP info	4976	Hs.478708			Mol Vis    2006    12    649-54	Evaluation of the association between OPA1 polymorphisms and primary open-angle glaucoma in Barbados families		605290		CDC	2006	Although some results are suggestive, there is not sufficient evidence to support an association of the SNPs evaluated in OPA1 with POAG/IOP or NTG in the African-Caribbean population of Barbados, West Indies.											
152292	Y	glaucoma	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	3	3q28-q29	OPA1	194793805	194898009		Mabuchi, F.  et al. 2007	17188046	OPA1 IVS 8 +32 T/C			Optic atrophy 1 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015560.1			CDC GDP info	4976	Hs.478708			Am J Ophthalmol    2007    143(1)    125-130.e2	The OPA1 Gene Polymorphism is Associated With Normal Tension and High Tension Glaucoma		605290		CDC	2007	The OPA1 IVS 8 +32 T/C polymorphism is associated with$$$ NTG, and may be used as a marker for this disease association. This polymorphism also influences the phenotypic feature in patients with HTG and should be considered to be a genetic risk factor not only for NTG, but also for HTG.											
152293		methamphetamine dependence methamphetamine psychosis	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced|Genetic Predisposition to Disease	1	1p36.1-p34.3	OPRD1	29011240	29062795		Kobayashi, H.  et al. 2006	16741914				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3			CDC GDP info	4985	Hs.372			Am J Med Genet B Neuropsychiatr Genet    2006	Association analysis of delta-opioid receptor gene polymorphisms in methamphetamine dependence/psychosis		165195		CDC	2006												
152294		anorexia nervosa	PSYCH	PSY	Anorexia Nervosa	1	1p36.1-p34.3	OPRD1	29011240	29062795		Brown, K. M.  et al. 2006	16806108				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3		Great Britain	CDC GDP info	4985	Hs.372			Biol Psychiatry    2006	Further Evidence of Association of OPRD1 & HTR1D Polymorphisms with Susceptibility to Anorexia Nervosa		165195		CDC	2006	These data support the hypothesis that polymorphisms within this region form a component of the genetic basis to susceptibility to RAN.											
152296		alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	1	1p36.1-p34.3	OPRD1	29011240	29062795		Xuei, X.  et al. 2007	17503481				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3	European		CDC GDP info	4985	Hs.372			Am J Med Genet B Neuropsychiatr Genet    2007	The opioid system in alcohol and drug dependence		165195		CDC	2007												
152297	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	8	8q11.2	OPRK1	54300828	54326747		Xuei, X.  et al. 2006	16924269				Opioid receptor, kappa 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000912.3	European		CDC GDP info	4986	Hs.106795			Mol Psychiatry    2006	Association of the kappa-opioid system with alcohol dependence		165196		CDC	2006												
152298	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Opioid-Related Disorders	8	8q11.2	OPRK1	54300828	54326747		Gerra, G.  et al. 2007	17373729				Opioid receptor, kappa 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000912.3	Caucasian;European		CDC GDP info	4986	Hs.106795			Am J Med Genet B Neuropsychiatr Genet    2007	Human Kappa opioid receptor gene (OPRK1) polymorphism is associated with opiate addiction		165196		CDC	2007												
152299	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	8	8q11.2	OPRK1	54300828	54326747		Gelernter, J.  et al. 2007	17374034				Opioid receptor, kappa 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000912.3			CDC GDP info	4986	Hs.106795			Alcohol Clin Exp Res    2007    31(4)    555-63	Opioid Receptor Gene (OPRM1, OPRK1, and OPRD1) Variants and Response to Naltrexone Treatment for Alcohol Dependence		165196		CDC	2007	These results do not support association of the OPRM1 Asn40Asp polymorphism with NTX treatment response for AD.		naltrexone									
152300		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		6	6q24-q25	OPRM1	154402135	154609693		Comings, D. E.  et al. 2000	11140838				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		600018		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152302		methamphetamine dependence psychosis	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Psychotic Disorders	6	6q24-q25	OPRM1	154402135	154609693			16402083				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Pharmacogenomics J    2006	Linkage disequilibrium and association with methamphetamine dependence/psychosis of mu-opioid receptor gene polymorphisms		600018		CDC	2006												
152303	Y	dyskinesias, levodopa-induced	PHARMACOGENOMIC	PHARM	Parkinson Disease|Dyskinesia, Drug-Induced	6	6q24-q25	OPRM1	154402135	154609693	0.05	Strong, J. A.  et al. 2006	16435402	A118G  N40D		coding sequence	Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Caucasian Parkinson Disease patients		CDC GDP info	4988	Hs.2353			Mov Disord    2006	Genotype and smoking history affect risk of levodopa-induced dyskinesias in Parkinson's disease	61596185	600018		CDC	2006	A allele and history of smoking associate independently with later onset of dyskinesia		smoking (tobacco)									
152304	Y	alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Zhang, H.  et al. 2006	16476706				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	European;Russian		CDC GDP info	4988	Hs.2353			Hum Mol Genet    2006	Association between Two {micro} Opioid Receptor Gene (OPRM1) Haplotype Blocks and Drug or Alcohol Dependence		600018		CDC	2006												
152305		morphine response	PHARMACOGENOMIC	PHARM	Pain, Postoperative|Postoperative Nausea and Vomiting	6	6q24-q25	OPRM1	154402135	154609693		Coulbault, L.  et al. 2006	16580900				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Clin Pharmacol Ther    2006    79(4)    316-324	Environmental and genetic factors associated with morphine response in the postoperative period		600018		CDC	2006	Age and prior use of psychotropic agents are associated with postoperative morphine dose requirements.											
152306	Y	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Nishizawa, D.  et al. 2006	16679777				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2		Japan	CDC GDP info	4988	Hs.2353			Neuropsychobiology    2006    53(3)    137-141	Association of mu-Opioid Receptor Gene Polymorphism A118G with Alcohol Dependence in a Japanese Population		600018		CDC	2006												
152308		adrenocorticotropic hormone cortisol	METABOLIC	MET		6	6q24-q25	OPRM1	154402135	154609693		Bart, G.  et al. 2006	16794569				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Neuropsychopharmacology    2006	Altered Levels of Basal Cortisol in Healthy Subjects with a 118G Allele in Exon 1 of the Mu Opioid Receptor Gene		600018		CDC	2006												
152309	Y	pain response	PHARMACOGENOMIC	PHARM	Pain, Postoperative|Postoperative Nausea and Vomiting	6	6q24-q25	OPRM1	154402135	154609693		Chou, W. Y.  et al. 2006	16871067				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Anesthesiology    2006    105(2)    334-337	Human Opioid Receptor A118G Polymorphism Affects Intravenous Patient-controlled Analgesia Morphine Consumption after Total Abdominal Hysterectomy		600018		CDC	2006	Genetic variation of the mu-opioid receptor may contribute to interindividual differences in postoperative morphine consumption. In the future, identifying single nucleotide polymorphisms of patients may provide information to modulate the analgesic dosage of opioid for better pain control.		morphine									
152310	Y	pain intenity	PHARMACOGENOMIC	PHARM	Pain, Postoperative	6	6q24-q25	OPRM1	154402135	154609693		Chou, W. Y.  et al. 2006	16879459	G118 poor prognosis, A118			Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Acta Anaesthesiol Scand    2006    50(7)    787-92	Association of mu-opioid receptor gene polymorphism (A118G) with variations in morphine consumption for analgesia after total knee arthroplasty		600018		CDC	2006	G118 homozygotes have a poorer response to morphine for post-operative pain control than A118 homozygotes or heterozygotes. The genotype may thus influence the post-operative response to pain and cause differences in the amounts of analgesic consumed by patients after total knee arthroplasty.		morphine									
152311	Y	nicotine	PHARMACOGENOMIC	PHARM	Substance Withdrawal Syndrome	6	6q24-q25	OPRM1	154402135	154609693		Ray, R.  et al. 2006	16960700				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Psychopharmacology (Berl)    2006	Association of OPRM1 A118G variant with the relative reinforcing value of nicotine		600018		CDC	2006	This study provides initial evidence for an association of the OPRM1 A118G variant with nicotine reinforcement in women.		naltrexone									
152312		pain, postoperative	PHARMACOGENOMIC	PHARM	Pain|Chronic Disease|Pain, Postoperative	6	6q24-q25	OPRM1	154402135	154609693		Janicki, P. K.  et al. 2006	17000822				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Anesth Analg    2006    103(4)    1011-7	A Genetic Association Study of the Functional A118G Polymorphism of the Human {micro}-Opioid Receptor Gene in Patients with Acute and Chronic Pain		600018		CDC	2006			analgesic									
152313	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Epilepsy, Absence	6	6q24-q25	OPRM1	154402135	154609693		Barratt, C.  et al. 2006	17054695				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Epilepsia    2006    47(10)    1728-1731	No Association of Single Nucleotide Polymorphisms in the mu-Opioid Receptor Subunit Gene with Idiopathic Generalized Epilepsy		600018		CDC	2006												
152314		morphine response	PHARMACOGENOMIC	PHARM	Neoplasms|Pain	6	6q24-q25	OPRM1	154402135	154609693		Reyes-Gibby, C. C.  et al. 2006	17156920				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Pain    2006	Exploring joint effects of genes and the clinical efficacy of morphine for cancer pain		600018		CDC	2006												
152316		cortical activation	NEUROLOGICAL	NEUR	Pain	6	6q24-q25	OPRM1	154402135	154609693		Lotsch, J.  et al. 2006	17201465				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Behav Neurosci    2006    120(6)    1218-1224	The Human ??-Opioid Receptor Gene Polymorphism 118A > G Decreases Cortical Activation in Response to Specific Nociceptive Stimulation		600018		CDC	2006												
152317	Y	alcohol craving	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		van den Wildenberg, E.  et al. 2007	17207095				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Alcohol Clin Exp Res    2007    31(1)    1-10	A Functional Polymorphism of the mu-Opioid Receptor Gene (OPRM1) Influences Cue-Induced Craving for Alcohol in Male Heavy Drinkers		600018		CDC	2007	A stronger urge to drink alcohol after exposure to an alcoholic beverage might contribute to a heightened risk for developing alcohol-related problems in individuals with a copy of the G allele. The G allele might also predispose to drug use in general.											
152318	Y	body mass smoking behavior	PHARMACOGENOMIC	PHARM		6	6q24-q25	OPRM1	154402135	154609693		Munafo, M. R.  et al. 2007	17224915				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Pharmacogenomics J    2007	Association of the mu-opioid receptor gene with smoking cessation		600018		CDC	2007			nicotine replacement therapy									
152319	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	6	6q24-q25	OPRM1	154402135	154609693		Gelernter, J.  et al. 2007	17374034				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Alcohol Clin Exp Res    2007    31(4)    555-63	Opioid Receptor Gene (OPRM1, OPRK1, and OPRD1) Variants and Response to Naltrexone Treatment for Alcohol Dependence		600018		CDC	2007	These results do not support association of the OPRM1 Asn40Asp polymorphism with NTX treatment response for AD.		naltrexone									
152320		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q24-q25	OPRM1	154402135	154609693		Glatt, S. J.  et al. 2007	17416470				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Drug Alcohol Depend    2007	Evaluation of OPRM1 variants in heroin dependence by family-based association testing and meta-analysis		600018		CDC	2007	has been reached regarding the role of OPRM1 polymorphisms in determining risk for opioid dependence.											
152321		alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Xuei, X.  et al. 2007	17503481				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	European		CDC GDP info	4988	Hs.2353			Am J Med Genet B Neuropsychiatr Genet    2007	The opioid system in alcohol and drug dependence		600018		CDC	2007												
152323	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma	1	1q32.1	OPTC	201729893	201744700		Acharya, M.  et al. 2007	17359525				Opticin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014359			CDC GDP info	26254	Hs.632468			BMC Mol Biol    2007    8(1)    21	Evaluation of the OPTC gene in primary open angle glaucoma				CDC	2007	Our study suggests OPTC as a candidate gene for POAG.											
152325	Y	glaucoma, primary open-angle	VISION	VIS	glaucoma, open-angle	10	10p13	OPTN	13181454	13220282	0.001	Yao, H. Y.  et al. 2006	16681888	c.102G>A	T34T	coding sequence	Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Taiwan Chinese	Taiwan	CDC GDP info	10133	Hs.332706			Zhonghua Yi Xue Za Zhi    2006    86(8)    554-9	Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients.	rs2234968	602432		CDC	2006	Polymorphisms in the MYOC and OPTN genes are associated with POAG in Chinese people.	Case:142 unrelated POAG patients (94 HTG, 48 NTG);Control:77 unrelated control subjects										
152326		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Acharya, M.  et al. 2006	16688110				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Indian	India	CDC GDP info	10133	Hs.332706			Mol Vis    2006    12    399-404	Primary role of CYP1B1 in Indian juvenile-onset POAG patients		602432		CDC	2006	Our observation suggests that on rare occasions CYP1B1 may be primarily responsible for JOAG by possible monogenic association, and this observation emphasizes the importance of screening for mutation in this gene of JOAG patients that are determined not to harbor mutations in previously characterized candidate genes and loci for POAG.											
152327	N	glaucoma Leber's hereditary optic neuropathy optic atrophy, autosomal dominant	VISION	VIS	Optic Nerve Diseases|Optic Atrophy, Autosomal Dominant|Optic Atrophy, Hereditary, Leber|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Craig, J. E.  et al. 2006	16885188				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDP info	10133	Hs.332706			Br J Ophthalmol    2006	The role of the Met98Lys Optineurin variant in inherited optic nerve diseases		602432		CDC	2006	Data from this study do not support a strong role for the OPTN Met98Lys variant in glaucoma, ADOA or LHON.											
152329		glaucoma, normal-tension glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Yasuda, N.  et al. 2006	16972651	His26Asp			Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDP info	10133	Hs.332706			Nippon Ganka Gakkai Zasshi    2006    110(8)    594-600	Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma		602432		CDC	2006	His26Asp mutation in the optineurin gene showed low penetrance in a Japanese family with NTG.											
152330	Y	glaucoma	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Hauser, M. A.  et al. 2006	16988596				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1		United States	CDC GDP info	10133	Hs.332706			J Glaucoma    2006    15(5)    358-363	Distribution of Optineurin Sequence Variations in an Ethnically Diverse Population of Low-tension Glaucoma Patients From the United States		602432		CDC	2006	The results of this study support the rare association of OPTN sequence variants with familial forms of LTG.											
152331	Y	glaucoma, primary open-angle	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Funayama, T.  et al. 2006	17122126				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDP info	10133	Hs.332706			Invest Ophthalmol Vis Sci    2006    47(12)    5368-75	SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma		602432		CDC	2006	The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.			OLFM2	OLFM2 The Arg144Gln	OPTN						
152332		glaucoma, early-onset glaucoma, normal tension	VISION	VIS	Glaucoma|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Ayala-Lugo, R. M.  et al. 2007	17293779				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Hispanic ;Ashkenazi;CaucJewish;Korean;Asian		CDC GDP info	10133	Hs.332706			Mol Vis    2007    13    151-63	Variation in optineurin (OPTN) allele frequencies between and within populations		602432		CDC	2007	this variant is rare.											
152333	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Kumar, A.  et al. 2007	17563717				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Indian		CDC GDP info	10133	Hs.332706			Mol Vis    2007    13    667-76	Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma		602432		CDC	2007	This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients.											
152335		warfarin sensitivity	PHARMACOGENOMIC	PHARM		9	9q31-q32	ORM1	116125156	116128578		Wadelius, M.  et al. 2006	17048007				Orosomucoid 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG564683			CDC GDP info	5004	Hs.567311			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		138600		CDC	2006												
152336		warfarin sensitivity	PHARMACOGENOMIC	PHARM		9	9q32	ORM2	116131889	116135357		Wadelius, M.  et al. 2006	17048007				Orosomucoid 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055563			CDC GDP info	5005	Hs.522356			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		138610		CDC	2006												
152337		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	17	17q12-q21.1	ORMDL3	35330821	35337380		Moffatt, M. F.  et al. 2007	17611496				ORM1-like 3 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK093063	German		CDC GDP info	94103	Hs.514151			Nature    2007	Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma				CDC	2007												
152338	Y	bipolar disorder depression	PSYCH	PSY	Bipolar Disorder|Schizophrenia	14	14q21-q22	OTX2	56337177	56346937		Sabunciyan, S.  et al. 2007	17541950				Orthodenticle homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032579			CDC GDP info	5015	Hs.288655			Am J Med Genet B Neuropsychiatr Genet    2007	Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder		600037		CDC	2007	variations in OTX2 might confer risk for the development of bipolar disorder.											
152339		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		20	20p13	OXT	3000265	3001162		Comings, D. E.  et al. 2000	11140838				Oxytocin, prepro- (neurophysin I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000915			CDC GDP info	5020	Hs.113216			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		167050		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152341	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	3	3p25	OXTR	8767094	8786300		Jacob, S.  et al. 2007	17383819				Oxytocin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000916.3	Chinese;Caucasian		CDC GDP info	5021	Hs.2820			Neurosci Lett    2007	Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism		167055		CDC	2007												
152342		anxiety disorder	PSYCH	PSY	Anxiety Disorders|Agoraphobia|Panic Disorder|Phobic Disorders	12	12q24.32	P2RX4	120132046	120156292		Erhardt, A.  et al. 2006	17197037				Purinergic receptor P2X, ligand-gated ion channel, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002560.2			CDC GDP info	5025	Hs.321709			J Affect Disord    2006	Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders		600846		CDC	2006	The locus 12q24.											
152343		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	12	12q24	P2RX7	120055060	120108241		Barden, N.  et al. 2006	16673375				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4	Canadian;French	France	CDC GDP info	5027	Hs.507102			Am J Med Genet B Neuropsychiatr Genet    2006	Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder		602566		CDC	2006												
152344	Y	depressive disorder, major	PSYCH	PSY	Recurrence|Depressive Disorder, Major	12	12q24	P2RX7	120055060	120108241		Lucae, S.  et al. 2006	16822851				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4	Caucasian;German		CDC GDP info	5027	Hs.507102			Hum Mol Genet    2006    15(16)    2438-45	P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder		602566		CDC	2006												
152346		anxiety disorder	PSYCH	PSY	Anxiety Disorders|Agoraphobia|Panic Disorder|Phobic Disorders	12	12q24	P2RX7	120055060	120108241		Erhardt, A.  et al. 2006	17197037				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDP info	5027	Hs.507102			J Affect Disord    2006	Association of polymorphisms in P2RX7 and CaMKKb with anxiety disorders		602566		CDC	2006	The locus 12q24.											
152347	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	12	12q24	P2RX7	120055060	120108241		Haas, S. L.  et al. 2007	17257221				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDP info	5027	Hs.507102			Scand J Immunol    2007    65(2)    166-70	Functional P2X(7) Receptor Polymorphisms (His155Tyr, Arg307Gln, Glu496Ala) in Patients with Crohn's Disease		602566		CDC	2007	the analysed intragenetic variants of the P2X(7) receptor may not be a susceptibility factor for CD.											
152348	Y	graft-versus-host disease	INFECTION	INF	Bacteremia|Hematologic Neoplasms|Anemia, Aplastic|Genetic Predisposition to Disease|Postoperative Complications	12	12q24	P2RX7	120055060	120108241		Lee, K. H.  et al. 2007	17488689				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDP info	5027	Hs.507102			Haematologica    2007    92(5)    651-7	P2X7 receptor polymorphism and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation		602566		CDC	2007	the A1513C polymorphism in the P2X7R gene is related to the occurrence of infections and survival after allogeneic stem cell transplantation.											
152349	Y	fractures, vertebral	OTHER	OTH	Fractures, Bone	12	12q24	P2RX7	120055060	120108241		Ohlendorff, S. D.  et al. 2007	17558311				Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDP info	5027	Hs.507102			Pharmacogenet Genomics    2007    17(7)    555-567	Single nucleotide polymorphisms in the P2X7 gene are associated to fracture risk and to effect of estrogen treatment		602566		CDC	2007	The P2X7 Glu496Ala and the Ile568Asn single nucleotide polymorphisms are associated with 10-year fracture risk in postmenopausal women and response to hormone replacement therapy treatment. Further, the Glu496Ala polymorphism is strongly influencing osteoclast apoptosis in vitro, which could contribute to increased fracture risk.											
152350	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	19	19p13.2	P2RY11	10077964	10087064		Amisten, S.  et al. 2006	17135283				Purinergic receptor P2Y, G-protein coupled, 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC009877			CDC GDP info	5032	Hs.655318			Eur Heart J    2006	Increased risk of acute myocardial infarction and elevated levels of C-reactive protein in carriersof the Thr-87 variant of the ATP receptor P2Y11		602697		CDC	2006	The common Ala-87-Thr polymorphism of the P2Y11 receptor is associated with AMI and increased levels of C-reactive protein. We hypothesize that an inflammatory mechanism might be involved. The P2Y11 receptor is a promising new drug target in the prevention of AMI.		family history									
152351	N	platelet aggregation	PHARMACOGENOMIC	PHARM		3	3q25.2	P2RY1	154035425	154038533		Lev, E. I.  et al. 2006	16581111				Purinergic receptor P2Y, G-protein coupled, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002563.2			CDC GDP info	5028	Hs.79881			Thromb Res    2006	Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel		601167		CDC	2006	We did not find an association between polymorphisms in the platelet receptors GP IIIa, P2Y(12) or P2Y(1) and response to aspirin or clopidogrel in cardiac patients.		aspirin clopidogrel									
152352		aspirin resistance	PHARMACOGENOMIC	PHARM		3	3q25.2	P2RY1	154035425	154038533		Li, Q.  et al. 2007	17559347				Purinergic receptor P2Y, G-protein coupled, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002563.2	Chinese;Caucasian		CDC GDP info	5028	Hs.79881			Pharmacogenomics    2007    8(6)    577-586	Frequency of genetic polymorphisms of COX1, GPIIIa and P2Y1 in a Chinese population and association with attenuated response to aspirin		601167		CDC	2007	The COX1 A-842G, C50T and GPIIIa PLA1/A2 polymorphisms are rare in Chinese. In contrast to previous studies in Caucasian populations, these candidate functional polymorphisms are unlikely to be significant contributors to aspirin pharmacodynamics in Chinese persons. Importantly, the presence of the P2Y1 893CC genotype appears to confer an attenuated antiplatelet effect during aspirin treatment in healthy Chinese volunteers. These data collectively underscore the importance of population-to-population variability in clinical pharmacogenetics research and provide a basis for further long-term studies of aspirin response and P2Y1 genetic variation in patients with cardiovascular risk.											
152353		atherosclerosis, coronary cardiac death myocardial infarct	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3q24-q25	P2RY12	152538065	152585234			16405973				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDP info	64805	Hs.591281			Thromb Res    2006	Association between platelet P2Y12 haplotype and risk of cardiovascular events in chronic coronary disease		600515		CDC	2006	This is the first report studying the association of P2Y12 platelet receptor H1 and H2 haplotype and cardiovascular events.											
152354	N	platelet aggregation	PHARMACOGENOMIC	PHARM		3	3q24-q25	P2RY12	152538065	152585234		Lev, E. I.  et al. 2006	16581111				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDP info	64805	Hs.591281			Thromb Res    2006	Genetic polymorphisms of the platelet receptors P2Y(12), P2Y(1) and GP IIIa and response to aspirin and clopidogrel		600515		CDC	2006	We did not find an association between polymorphisms in the platelet receptors GP IIIa, P2Y(12) or P2Y(1) and response to aspirin or clopidogrel in cardiac patients.		aspirin clopidogrel									
152355	N	clopidogrel pharmacokinetics	PHARMACOGENOMIC	PHARM		3	3q24-q25	P2RY12	152538065	152585234		Smith, S. M.  et al. 2006	16769602				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDP info	64805	Hs.591281			Platelets    2006    17(4)    250-8	Common sequence variations in the P2Y12 and CYP3A5 genes do not explain the variability in the inhibitory effects of clopidogrel therapy		600515		CDC	2006	common sequence variations within the P2Y12 and CYP3A5 genes do not contribute any major effect to the inter-patient variability in clopidogrel efficacy.											
152356	N	aspirin sensitivity	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Chronic Disease	3	3q24-q25	P2RY12	152538065	152585234		Bernardo, E.  et al. 2006	17127487				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDP info	64805	Hs.591281			Platelets    2006    17(8)    586-90	Lack of association between gene sequence variations of platelet membrane receptors and aspirin responsiveness detected by the PFA-100 system in patients with coronary artery disease		600515		CDC	2006												
152357		clopidogrel response	PHARMACOGENOMIC	PHARM	Heart Diseases|Acute Disease	3	3q24-q25	P2RY12	152538065	152585234		Cuisset, T.  et al. 2007	17337040				Purinergic receptor P2Y, G-protein coupled, 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022788.3			CDC GDP info	64805	Hs.591281			Thromb Res    2007	Role of the T744C polymorphism of the P2Y12 gene on platelet response to a 600-mg loading dose of clopidogrel in 597 patients with non-ST-segment elevation acute coronary syndrome		600515		CDC	2007	Our study did not show any influence of the T744C polymorphism of the P2Y12 receptor gene on clopidogrel response assessed by ADP-Ag, PRI VASP or P-selectin expression in NSTE ACS patients.											
152359	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11q13.5-q14.1	P2RY2	72606991	72625043		Kokubo, Y.  et al. 2006	17137217				Purinergic receptor P2Y, G-protein coupled, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176072			CDC GDP info	5029	Hs.339			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		600041		CDC	2006												
152361	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Iwamoto, T.  et al. 2006	16449362				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Japanese;European		CDC GDP info	23569	Hs.522969			Rheumatology (Oxford)    2006	Association between PADI4 and rheumatoid arthritis		605347		CDC	2006	Our meta-analysis showed a positive association between PADI4 and RA not only in the Japanese population but also in populations of European descent.											
152362		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082			16519819				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDP info	23569	Hs.522969			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		605347		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
152363		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1p36.13	PADI4	17507278	17563082		Tommasi, C.  et al. 2006	16828881				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDP info	23569	Hs.522969			J Neuroimmunol    2006	PADI4 gene in multiple sclerosis		605347		CDC	2006												
152364	Y	rheumatoid arthritis	IMMUNE	IMM		1	1p36.13	PADI4	17507278	17563082		Lee, Y. H.  et al. 2007	17265154				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	European;Asian		CDC GDP info	23569	Hs.522969			Rheumatol Int    2007	PADI4 polymorphisms and rheumatoid arthritis susceptibility		605347		CDC	2007	this meta-analysis demonstrates that the PADI4 polymorphisms may represent a significant risk factor for RA in Asians and Europeans and may play a larger role in susceptibility to RA in Asian than in European populations. Further studies are needed to see if the PADI4 gene confers a risk of RA in other ethnic groups.											
152365	Y	anti-cyclic citrullinated peptide antibodies rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression|Disease Susceptibility	1	1p36.13	PADI4	17507278	17563082		Cha, S.  et al. 2007	17469103				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1	Korean	Korea	CDC GDP info	23569	Hs.522969			Arthritis Rheum    2007    56(5)    1454-1463	Association of Anti-Cyclic citrullinated peptide antibody levels with PADI4 haplotypes in early rheumatoid arthritis and with shared epitope alleles in very late rheumatoid arthritis		605347		CDC	2007	The PADI4 RA risk haplotype is associated with increased anti-CCP levels in RA patients with disease of short duration, and PADI4 may play a role in early RA. In contrast, SE alleles are associated with increased anti-CCP levels in RA patients with very longstanding disease and in patients with erosive RA, suggesting that SE alleles play a role in very late											
152366	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	17	17p13.3	PAFAH1B1	2443685	2535638			16411107				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2			CDC GDP info	5048	Hs.77318			Graefes Arch Clin Exp Ophthalmol    2006        1-7	Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma		601545		CDC	2006	PON1 gene polymorphisms may influence the features of Japanese patients with OAG.											
152367	Y	atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17p13.3	PAFAH1B1	2443685	2535638		Liu, P. Y.  et al. 2006	16689754				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2			CDC GDP info	5048	Hs.77318			J Thromb Haemost    2006    4(5)    1023-8	Platelet-activating factor-acetylhydrolase A379V (exon 11) gene polymorphism is an independent and functional risk factor for premature myocardial infarction		601545		CDC	2006	We conclude that a functional and significant association between the A379V polymorphism on exon 11 of PAF-AH gene and premature MI exists in this Taiwanese population. This polymorphism is significantly associated with the PAF-AH activity and the severity of coronary atherosclerosis.											
152368	N	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	17	17p13.3	PAFAH1B1	2443685	2535638		Wang, B.  et al. 2006	16761416				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2			CDC GDP info	5048	Hs.77318			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(3)    391-4	Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy		601545		CDC	2006	Neither the mutation of Ile451Met in gene encoding for Desmin exon 8 nor the mutation frequency of PAF-AH gene (G994-->T) has correlation with the DCM.											
152369	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	17	17p13.3	PAFAH1B1	2443685	2535638		Sekuri, C.  et al. 2006	16766276				Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000430.2	Turkish	Turkey	CDC GDP info	5048	Hs.77318			Anadolu Kardiyol Derg    2006    6(2)    132-134	Association of platelet-activating factor acetylhydrolase gene polymorphism with premature coronary artery disease in Turkish patients		601545		CDC	2006	The G9943T mutation in the plasma PAF acetylhydrolase gene is not associated with premature CAD in Turkish subjects.											
152370	Y	hypercholesterolemia peripheral vascular disease	CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Atherosclerosis|Peripheral Vascular Diseases|Hypercholesterolemia	1	1p36	PAFAH2	26159901	26197235		Unno, N.  et al. 2006	16650870				Platelet-activating factor acetylhydrolase 2, 40kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000437			CDC GDP info	5051	Hs.477083			J Surg Res    2006	A Single Nucleotide Polymorphism in the Plasma PAF Acetylhydrolase Gene and Risk of Atherosclerosis in Japanese Patients With Peripheral Artery Occlusive Disease				CDC	2006	The plasma PAF-AH gene polymorphism and hypercholesterolemia may interact and increase the risk of atherosclerosis.											
152371			METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Song, F.  et al. 2005	16256386				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Chinese;European;Asian		CDC GDP info	5053	Hs.643451			Mol Genet Metab    2005    86 Suppl 1    S107-18	Phenylketonuria mutations in Northern China		261600		CDC	2005												
152373			METABOLIC	MET	Phenylketonurias	12	12q22-q24.2	PAH	101756233	101835511		Lara, L. S.  et al. 2006	16755493				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Brazilian;Caucasian	Brazil	CDC GDP info	5053	Hs.643451			Genet Mol Res    2006    5(1)    16-23	Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil		261600		CDC	2006												
152375	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	4	4q32.3	PALLD	169654791	170086183		Zogopoulous, G.  et al. 2007	17415588				Palladin, cytoskeletal associated protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016081			CDC GDP info	23022	Hs.151220			Hum Genet    2007	The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer		608092		CDC	2007												
152376		neurodegeneration with brain iron accumulation	NEUROLOGICAL	NEUR	Neurodegenerative Diseases	20	20p13	PANK2	3815914	3817231		Hartig, M. B.  et al. 2006	16437574				Pantothenate kinase 2 (Hallervorden-Spatz syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153638.2			CDC GDP info	80025	Hs.516859			Ann Neurol    2006    59(2)    248-256	Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation		606157		CDC	2006												
152377		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	10	10p11.23	PAPD1	30641764	30703383		Nejentsev, S.  et al. 2007	17509149				PAP associated domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018109			CDC GDP info	55149	Hs.173946			BMC Genet    2007    8(1)    24	Sequencing and association analysis of the type 1 diabetes - linked region on chromosome 10p12-q11				CDC	2007	polymorphisms in the CREM and SDF1 genes have no major effect on T1D.											
152378		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p	PARK10				Haugarvoll, K.  et al. 2007	17230446				Parkinson disease 10		Irish;Norwegian	Norway	CDC GDP info	170534				Mov Disord    2007	ELAVL4, PARK10, and the Celts		606852		CDC	2007												
152379	P	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Clark, L. N.  et al. 2006	16606767				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDP info	5071	Hs.132954			Arch Neurol    2006    63(4)    548-552	Case-Control Study of the Parkin Gene in Early-Onset Parkinson Disease		602544		CDC	2006	The frequency of mutations among cases that were not selected based on family history of PD is similar to what has previously been reported in sporadic PD.											
152381		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Biswas, A.  et al. 2006	16793319				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Indian	India	CDC GDP info	5071	Hs.132954			Parkinsonism Relat Disord    2006	Molecular pathogenesis of Parkinson's disease		602544		CDC	2006												
152382		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Kay, D. M.  et al. 2006	17187375				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDP info	5071	Hs.132954			Ann Neurol    2006	Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients		602544		CDC	2006												
152384		Parkinson's disease	NEUROLOGICAL	NEUR		6	6q25.2-q27	PARK2	161689661	163068790		Peng, R.  et al. 2007	17285542				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDP info	5071	Hs.132954			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    38-41	Association analysis of the parkin gene in patients with sporadic Parkinson's disease from a Han population of Sichuan province.		602544		CDC	2007	This study suggests that the parkin promoter -258T/G polymorphism might be a risk factor for late onset PD in Sichuan. CC genotype for IVS3 -20T/C polymorphism is common in Sichuan Han population. No TT genotype for IVS3 -20T/C polymorphism is found in Sichuan Han population.											
152385			NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Shadrina, M. I.  et al. 2007	17324265				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDP info	5071	Hs.132954			BMC Med Genet    2007    8(1)    6	Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage		602544		CDC	2007	We have developed a simple, accurate, and reproducible method applicable to the rapid detection of exon rearrangements in the PARK2 gene.											
152386		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Ghione, I.  et al. 2007	17335904				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Italian		CDC GDP info	5071	Hs.132954			Neurotoxicology    2007	Parkin polymorphisms and environmental exposure		602544		CDC	2007			organic solvents pesticides									
152387	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Ross, O. A.  et al. 2007	17400506			promoter	Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Caucasian;Norwegian		CDC GDP info	5071	Hs.132954			Parkinsonism Relat Disord    2007	Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease		602544		CDC	2007												
152388		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	PARK5				Tan, E. K.  et al. 2006	16941465				ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AB209038	Japanese;Chinese;Caucasian;Asian		CDC GDP info	7345	Hs.518731			Mov Disord    2006	Case-control study of UCHL1 S18Y variant in Parkinson's disease		191342		CDC	2006												
152389		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	PARK8				Mata, I. F.  et al. 2006	16643318				leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_198578	Spanish;Spanish;European		CDC GDP info	120892	Hs.187636			Eur J Neurol    2006    13(4)    391-4	LRRK2 mutations are a common cause of Parkinson's disease in Spain		609007		CDC	2006												
152390		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	PARK8				Ghione, I.  et al. 2007	17335904				leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_198578	Italian		CDC GDP info	120892	Hs.187636			Neurotoxicology    2007	Parkin polymorphisms and environmental exposure		609007		CDC	2007			organic solvents pesticides									
152391	N	insulin	METABOLIC	MET	Insulin Resistance	3	3q27.1	PARL	185029866	185085387		Fawcett, K. A.  et al. 2006	17019603	Leu262Val			Presenilin associated, rhomboid-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018622			CDC GDP info	55486	Hs.478469			Diabetologia    2006    49(11)    2649-52	PARL Leu262Val is not associated with fasting insulin levels in UK populations		607858		CDC	2006	 Despite having greater statistical power, our data do not support the previously reported association between PARL Leu262Val and fasting plasma insulin levels, a measure of insulin resistance. Our findings indicate that this variant is unlikely to be an important contributor to insulin resistance in UK populations.											
152393	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414			16412052				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Clin Exp Immunol    2006    143(2)    281-7	Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients		173870		CDC	2006												
152394	N	arthritis lupus erythematosus nephritis	IMMUNE	IMM	Arthritis|Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Hur, J. W.  et al. 2006	16461442				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Korean		CDC GDP info	142	Hs.177766			Rheumatology (Oxford)    2006	Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus		173870		CDC	2006												
152395	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Zhang, Y.  et al. 2006	16492928				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Caucasian;Polish;Asian		CDC GDP info	142	Hs.177766			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		173870		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
152397		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Figueroa, J. D.  et al. 2007	17203305				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		173870		CDC	2007												
152398	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Huang, M.  et al. 2007	17220334				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Cancer Epidemiol Biomarkers Prev    2007    16(1)    84-91	High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility		173870		CDC	2007	we did not find an association between any single BER gene single nucleotide polymorphism and bladder cancer risk.		smoking (tobacco)									
152399		colorectal cancer	CANCER	CAN	Adenomyoma|Colorectal Neoplasms	1	1q41-q42	PARP1	224615128	224662414		Berndt, S. I.  et al. 2007	17283177				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Caucasian	United States	CDC GDP info	142	Hs.177766			Cancer Res    2007    67(3)    1395-404	Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma		173870		CDC	2007												
152401	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q41-q42	PARP1	224615128	224662414		Infante, J.  et al. 2007	17362997				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			J Neurol Sci    2007	Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease		173870		CDC	2007												
152402	Y	glomerulonephritis	RENAL	REN	Glomerulonephritis|Chronic Disease	1	1q41-q42	PARP1	224615128	224662414			17385326				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	Moscow;Russian		CDC GDP info	142	Hs.177766			Genetika    2007    43(2)    261-4	Polymorphic markers Val762Ala and Leu54Phe of the ADPRT1 gene associated with chronic glomerulonephritis in Russian patients from Moscow region		173870		CDC	2007												
152403		breast cancer	CANCER	CAN	Carcinoma, Ductal|Breast Neoplasms|Neoplasms, Hormone-Dependent	1	1q41-q42	PARP1	224615128	224662414		Cao, W. H.  et al. 2007	17560163				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2	French		CDC GDP info	142	Hs.177766			Mutat Res    2007	Analysis of genetic variants of the poly(ADP-ribose) polymerase-1 gene in breast cancer in French patients		173870		CDC	2007												
152405		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	13	13q11	PARP4	23893068	23984948		Zhang, Z.  et al. 2006	16405741				Poly (ADP-ribose) polymerase family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158255			CDC GDP info	143	Hs.591227			Ai Zheng    2006    25(1)    7-10	Correlation of genetic polymorphisms in DNA repair genes ADPRT and XRCC1 to risk of gastric cancer		607519		CDC	2006	The ADPRT 762Val-->Ala polymorphism plays an important role in the development of gastric cancer, and the XRCC1 399Arg-->Gln polymorphism may serve as a risk modifier.											
152406	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	13	13q11	PARP4	23893068	23984948		Li, C.  et al. 2006	16621887				Poly (ADP-ribose) polymerase family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158255			CDC GDP info	143	Hs.591227			Carcinogenesis    2006	Genetic variants of the ADPRT, XRCC1, and APE1 genes and risk of cutaneous melanoma		607519		CDC	2006	the APE1 Glu variant may have an effect or interact with XRCC1 in the etiology of CM or in linkage disequilibrium with other untyped protective alleles.											
152407	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	13	13q11	PARP4	23893068	23984948		Miao, X.  et al. 2006	16890595				Poly (ADP-ribose) polymerase family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158255			CDC GDP info	143	Hs.591227			Gastroenterology    2006    131(2)    420-7	Adenosine diphosphate ribosyl transferase and x-ray repair cross-complementing 1 polymorphisms in gastric cardia cancer		607519		CDC	2006	The ADPRT and XRCC1 polymorphisms confer host susceptibility to GCA, which might result from reduced ADPRT-XRCC1 interaction and attenuated base excision repair capacity.		smoking (tobacco)									
152408		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q11	PARP4	23893068	23984948		Figueroa, J. D.  et al. 2007	17203305				Poly (ADP-ribose) polymerase family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158255			CDC GDP info	143	Hs.591227			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		607519		CDC	2007												
152410	N	cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	12	12q21	PAWR	78509875	78608921		Weller, A. E.  et al. 2006	16969273				PRKC, apoptosis, WT1, regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK095165			CDC GDP info	5074	Hs.643130			Psychiatr Genet    2006    16(5)    193-196	No association between polymorphisms in the prostate apoptosis factor-4 gene and cocaine dependence		601936		CDC	2006	The results of this study suggest that variations in the human Par-4 gene are unlikely to play a major role in the pathophysiology of cocaine dependence. This study, however, should be repeated in larger cocaine-dependent and control populations to determine that this is indeed the case.											
152412	Y	kidney size, newborn	RENAL	REN		10	10q24	PAX2	102495321	102579688		Quinlan, J.  et al. 2007	17513325		AAA haplotype associated with reduced allele expression	unknown	Paired box gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_003988			CDC GDP info	5076	Hs.155644			J Am Soc Nephrol    2007	A Common Variant of the PAX2 Gene Is Associated with Reduced Newborn Kidney Size		167409		CDC	2007	Subtle renal hypoplasia in normal newborns may be partially due to a common variant of the PAX2 gene that reduces mRNA expression during kidney development.											
152413	N	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	2	2q35-q37|2q35	PAX3	222772850	222871944		Lu, W.  et al. 2006	17149730				Paired box 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_181458			CDC GDP info	5077	Hs.42146			Birth Defects Res A Clin Mol Teratol    2006	Screening for novel PAX3 polymorphisms and risks of spina bifida		606597		CDC	2006	Our analyses indicated that PAX3 SNPs were not strong risk factors for human spina bifida.											
152414	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q32	PAX4	127037581	127043218			16423628	PAX4  Arg121Trp			Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1			CDC GDP info	5078	Hs.129706			Metabolism    2006    55(2)    213-6	The Arg121Trp variant in PAX4 gene is associated with beta-cell dysfunction in Japanese subjects with type 2 diabetes mellitus		167413		CDC	2006												
152415	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q32	PAX4	127037581	127043218		Martin, R. J.  et al. 2006	16911636	PAX4  A1168C			Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1			CDC GDP info	5078	Hs.129706			Diabet Med    2006    23(8)    927-8	The PAX4 gene variant A1168C is not associated with early onset Type 1 diabetes in a UK population		167413		CDC	2006												
152416		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q32	PAX4	127037581	127043218		Plengvidhya, N.  et al. 2007	17426099				Paired box gene 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006193.1	Thai		CDC GDP info	5078	Hs.129706			J Clin Endocrinol Metab    2007	PAX4 Mutations in Thais with Maturity-Onset Diabetes of the Young		167413		CDC	2007	Eight sequence differences were identified.											
152417	N	optic nerve malformation	DEVELOPMENTAL	DEV	Congenital Abnormalities	11	11p13	PAX6	31767033	31789455		Nallathambi, J.  et al. 2006	16604056				Paired box gene 6 (aniridia, keratitis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000280.2	Indian		CDC GDP info	5080	Hs.591993			Mol Vis    2006    12    236-42	PAX6 missense mutations associated in patients with optic nerve malformation		607108		CDC	2006	In this study, we have been able to identify two sequence variations in the PAX6 gene.											
152418		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p13	PAX6	31767033	31789455		Yokoi, N.  et al. 2006	16873704				Paired box gene 6 (aniridia, keratitis)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000280.2	Japanese;European		CDC GDP info	5080	Hs.591993			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		607108		CDC	2006												
152419	Y	hypothyroidism, congenital	METABOLIC	MET	Congenital Hypothyroidism	2	2q12-q14	PAX8	113690044	113752968		Lanzerath, K.  et al. 2006	16763387				Paired box 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003466	German		CDC GDP info	7849	Hs.469728			Horm Res    2006    66(2)    96-100	Screening for Pax8 Mutations in Patients with Congenital Hypothyroidism in South-West Germany		167415		CDC	2006	These findings confirm the contribution of mutations in the Pax8 gene to the etiology of thyroid dysgenesis with a variable penetrance, but also demonstrate the rare overall incidence in CH.											
152420	N	diabetes, type 2 glucose insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	7	7q22.2	PBEF1	105675967	105712874		Bottcher, Y.  et al. 2006	16636125				Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746	Caucasian;German		CDC GDP info	10135	Hs.489615			J Clin Endocrinol Metab    2006	Genetic Variation in the Visfatin Gene (PBEF1) and its Relation to Glucose Metabolism and Fat Depot Specific mRNA Expression in Humans				CDC	2006	In conclusion, our data suggest that genetic variation in the visfatin gene may have a minor effect on visceral and sc visfatin mRNA expression profiles but does not play a major role in the development of obesity or T2DM.											
152422		glucose insulin lipoprotein	METABOLIC	MET		7	7q22.2	PBEF1	105675967	105712874		Bailey, S. D.  et al. 2006	17003359			promoter	Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746	Quebec	France	CDC GDP info	10135	Hs.489615			Diabetes    2006    55(10)    2896-902	Common Polymorphisms in the Promoter of the Visfatin Gene (PBEF1) Influence Plasma Insulin Levels in a French-Canadian Population				CDC	2006												
152423	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Inflammation	7	7q22.2	PBEF1	105675967	105712874		Zhang, Y. Y.  et al. 2006	17189536			promoter	Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746			CDC GDP info	10135	Hs.489615			Obesity (Silver Spring)    2006    14(12)    2119-26	A visfatin promoter polymorphism is associated with low-grade inflammation and type 2 diabetes				CDC	2006												
152425	N	blood pressure, arterial glucose obesity	CARDIOVASCULAR	CARD	Obesity	7	7q22.2	PBEF1	105675967	105712874		Korner, A.  et al. 2007	17512309				Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746			CDC GDP info	10135	Hs.489615			Metabolism    2007    56(6)    772-7	Effects of genetic variation in the visfatin gene (PBEF1) on obesity, glucose metabolism, and blood pressure in children				CDC	2007	genetic variants in PBEF1 may be associated with increased BP in children but are not likely to contribute significantly to the variation in body mass index and glucose, insulin, or lipid metabolism.											
152426		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5q31	PCDHA				Comings, D. E.  et al. 2000	11140838				protocadherin alpha cluster				CDC GDP info	56117				Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		604966		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152427	N	diabetes, type 2	CARDIOVASCULAR	CARD	Atherosclerosis|Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q13.31	PCK1	55569542	55574922		Gouni-Berthold, I.  et al. 2006	16620271			promoter	Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2	Canadian;CaucGerman		CDC GDP info	5105	Hs.1872			Diabet Med    2006    23(4)    419-25	Association of the promoter polymorphism -232C/G of the phosphoenolpyruvate carboxykinase gene (PCK1) with Type 2 diabetes mellitus		261680		CDC	2006												
152429	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.31	PCK1	55569542	55574922		Willer, C. J.  et al. 2007	17192490				Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2			CDC GDP info	5105	Hs.1872			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		261680		CDC	2007												
152430		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20q13.31	PCK1	55569542	55574922		Hamilton, G.  et al. 2007	17440948				Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2			CDC GDP info	5105	Hs.1872			Am J Med Genet B Neuropsychiatr Genet    2007	Candidate gene association study of insulin signaling genes and Alzheimer's disease		261680		CDC	2007												
152431	Y	schizophrenia	PSYCH	PSY	Atrophy|Genetic Predisposition to Disease|Schizophrenia	8	8p22-p21.3	PCM1	17824778	17929764		Gurling, H. M.  et al. 2006	16894060				Pericentriolar material 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006197	Scottish		CDC GDP info	5108	Hs.491148			Arch Gen Psychiatry    2006    63(8)    844-854	Genetic Association and Brain Morphology Studies and the Chromosome 8p22 Pericentriolar Material 1 (PCM1) Gene in Susceptibility to Schizophrenia				CDC	2006	The PCM1 gene is implicated in susceptibility to schizophrenia and is associated with orbitofrontal gray matter volumetric deficits.											
152433		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	20	20pter-p12	PCNA	5043598	5055268		Figueroa, J. D.  et al. 2007	17203305				Proliferating cell nuclear antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002592.2			CDC GDP info	5111	Hs.147433			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		176740		CDC	2007												
152434	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20p11.2	PCSK2	17154751	17413222		Leak, T. S.  et al. 2007	17618154				Proprotein convertase subtilisin/kexin type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB009973	African American;European		CDC GDP info	5126	Hs.315186			Mol Genet Metab    2007	Association of the proprotein convertase subtilisin/kexin-type 2 (PCSK2) gene with type 2 diabetes in an African American population		162151		CDC	2007												
152436		cholesterol, LDL	METABOLIC	MET	Hypercholesterolemia	1	1p32.3	PCSK9	55277807	55303111		Kotowski, I. K.  et al. 2006	16465619				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			Am J Hum Genet    2006    78(3)    410-22	A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol		607786		CDC	2006												
152437		atherosclerosis, coronary cholesterol, LDL	CARDIOVASCULAR	CARD	Coronary Disease|Hypolipoproteinemias	1	1p32.3	PCSK9	55277807	55303111		Cohen, J. C.  et al. 2006	16554528				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			N Engl J Med    2006    354(12)    1264-72	Sequence variations in PCSK9, low LDL, and protection against coronary heart disease		607786		CDC	2006	These data indicate that moderate lifelong reduction in the plasma level of LDL cholesterol is associated with$$$ a substantial reduction in the incidence of coronary events, even in populations with a high prevalence of non-lipid-related cardiovascular risk factors.											
152438		cholesterol, HDL cholesterol, LDL	METABOLIC	MET	Hypobetalipoproteinemias	1	1p32.3	PCSK9	55277807	55303111		Yue, P.  et al. 2006	16619215				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2	African American;Caucasian		CDC GDP info	255738	Hs.18844			Hum Mutat    2006    27(5)    460-466	The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population		607786		CDC	2006	the c.											
152440	Y	hypercholesterolemia	METABOLIC	MET	Hypercholesterolemia	1	1p32.3	PCSK9	55277807	55303111		Evans, D.  et al. 2006	16875509	E670G			Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2	European		CDC GDP info	255738	Hs.18844			BMC Med Genet    2006    7(1)    66	The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women		607786		CDC	2006	In a European population the E670G SNP in the PCSK9 gene is associated with increased LDL in men but not in women.											
152441	Y	heart disease, ischemic hypercholesterolemia	PHARMACOGENOMIC	PHARM	Coronary Disease|Hyperlipoproteinemia Type II	1	1p32.3	PCSK9	55277807	55303111		Humphries, S. E.  et al. 2006	17142622				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			J Med Genet    2006    43(12)    943-9	Genetic causes of familial hypercholesterolaemia in patients in the UK		607786		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.		statins									
152442		cholesterol, LDL	METABOLIC	MET		1	1p32.3	PCSK9	55277807	55303111		Miyake, Y.  et al. 2007	17316651				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			Atherosclerosis    2007	Genetic variants in PCSK9 in the Japanese population		607786		CDC	2007			antihypertensive									
152444	Y	cholesterol, LDL	METABOLIC	MET	Coronary Disease	1	1p32.3	PCSK9	55277807	55303111		Hallman, D. M.  et al. 2007	17599443				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			Am J Cardiol    2007    100(1)    69-72	Relation of PCSK9 Mutations to Serum Low-Density Lipoprotein Cholesterol in Childhood and Adulthood (from the Bogalusa Heart Study)		607786		CDC	2007	our results show that these PCSK9 variants are associated with significantly lower LDL cholesterol levels starting in childhood.											
152445		neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects|Spinal Dysraphism	3	3q29	PCYT1A	197449649	197498981		Enaw, J.  et al. 2006	17184542				Phosphate cytidylyltransferase 1, choline, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC042043		California	CDC GDP info	5130	Hs.435767			BMC Med    2006    4(1)    36	CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California Population		123695		CDC	2006	Our analyses showed genotype effects of CHKA and PCYT1A genes on spina bifida risk, but did not show evidence of gene-nutrient interactions. The underlying mechanisms are yet to be resolved.		choline									
152446		lupus erythematosus	IMMUNE	IMM		2	2q37.3	PDCD1	242440710	242449731		Ye, D. Q.  et al. 2005	16471222				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    698-701	The analysis on single nucleotide polymorphism of PDCD1 and systemic lupus erythematous susceptibility among han indigenous in Chinese population		600244		CDC	2005	The genotype of PDCD1 gene 7809 locus was G/G in all indigenous Han Chinese, while the SNPs of PDCD1 gene 7872 locus and 8162 locus might affect the susceptibility to SLE development.											
152447		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Bennet, A. M.  et al. 2006	17002900				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			Hum Immunol    2006    67(9)    700-5	Decreased Risk for Myocardial Infarction and Lower Tumor Necrosis Factor-alpha Levels in Carriers of Variants of the PDCD1 Gene		600244		CDC	2006												
152449	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Lee, S. H.  et al. 2006	17064404				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Caucasian;Korean	Korea	CDC GDP info	5133	Hs.158297			Arthritis Res Ther    2006    8(6)    R163	Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population		600244		CDC	2006												
152450		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Disease Susceptibility	2	2q37.3	PDCD1	242440710	242449731		Hiromine, Y.  et al. 2006	17130567				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			Ann N Y Acad Sci    2006    1079    285-288	Molecular Scanning of the Gene for Programmed Cell Death-1 (PDCD-1) as a Candidate for Type 1 Diabetes Susceptibility		600244		CDC	2006												
152451	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Abelson, A. K.  et al. 2006	17136123				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Swedish;Icelandic;Mexican		CDC GDP info	5133	Hs.158297			Genes Immun    2006	No evidence of association between genetic variants of the PDCD1 ligands and SLE		600244		CDC	2006												
152452		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Ni, R.  et al. 2007	17203303				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			Hum Genet    2007	PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children		600244		CDC	2007	the genetic evaluation by association study demonstrated that the PD-1 gene was a predisposing gene to the development of T1D mellitus in the Japanese population.											
152454	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Thorburn, C. M.  et al. 2007	17344889				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	African American;Hispanic Caucasian		CDC GDP info	5133	Hs.158297			Genes Immun    2007	Association of PDCD1 genetic variation with risk and clinical manifestations of systemic lupus erythematosus in a multiethnic cohort		600244		CDC	2007												
152455	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Iwamoto, T.  et al. 2007	17468813				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Japanese;European		CDC GDP info	5133	Hs.158297			J Hum Genet    2007	Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population		600244		CDC	2007	polymorphisms in the PDCD1 gene analyzed here are not associated with RA in a Japanese population.											
152456	Y	Graves' disease	IMMUNE	IMM	Graves Disease	2	2q37.3	PDCD1	242440710	242449731		Newby, P. R.  et al. 2007	17490403				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Caucasian		CDC GDP info	5133	Hs.158297			Clin Endocrinol (Oxf)    2007	Tag SNP screening of the PDCD1 gene for association with Graves' disease		600244		CDC	2007	This study has, for the first time, shown that small effects within PDCD1 may contribute towards the development of GD, supporting the hypothesis that much of the currently unknown genetic contribution to GD could be due to several small genetic effects with ORs 1.											
152459		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9p24.2	PDCD1LG2	5500569	5560398		Ni, R.  et al. 2007	17203303				Programmed cell death 1 ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK001872			CDC GDP info	80380	Hs.532279			Hum Genet    2007	PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children				CDC	2007	the genetic evaluation by association study demonstrated that the PD-1 gene was a predisposing gene to the development of T1D mellitus in the Japanese population.											
152460	Y	leukemia, chronic myelogenous	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q12-q13.1	PDCD5	37763943	37770169			16361542	PDCD5  -27G/-11A		promoter	Programmed cell death 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209040			CDC GDP info	9141	Hs.443831			Clin Cancer Res    2005    11(24)    8592-9	Two single-nucleotide polymorphisms with linkage disequilibrium in the human programmed cell death 5 gene 5' regulatory region affect promoter activity and the susceptibility of chronic myelogenous leukemia in chinese population				CDC	2005	These data suggest that -27G/-11A is associated with$$$ reduced PDCD5 promoter activity and increased susceptibility to CML.											
152461	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	19	19q12-q13.1	PDCD5	37763943	37770169		Spinola, M.  et al. 2006	16549820				Programmed cell death 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209040	German;Italian		CDC GDP info	9141	Hs.443831			J Clin Oncol    2006	Association of the PDCD5 Locus With Lung Cancer Risk and Prognosis in Smokers				CDC	2006	These results suggest that the rs1862214 polymorphism in PDCD5 is predictive for lung cancer risk and prognosis, and that PDCD5 may represent a novel tumor suppressor gene influencing lung cancer.											
152462	Y	depressive disorder, major	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Depressive Disorder, Major	2	2q31.2	PDE11A	178196222	178681312		Wong, M. L.  et al. 2006	17008408				Phosphodiesterase 11A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016953	Mexican;Mexican American		CDC GDP info	50940	Hs.570273			Proc Natl Acad Sci U S A    2006	Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response		604961		CDC	2006	PDE11A has a role in the pathophysiology of MDD.		antidepressants									
152463	Y		CANCER	CAN	Adenoma|Pituitary Neoplasms|Adrenocortical Hyperfunction|Cushing Syndrome	2	2q31.2	PDE11A	178196222	178681312		Horvath, A.  et al. 2006	17178847				Phosphodiesterase 11A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016953			CDC GDP info	50940	Hs.570273			Cancer Res    2006    66(24)    11571-5	Adrenal Hyperplasia and Adenomas Are Associated with Inhibition of Phosphodiesterase 11A in Carriers of PDE11A Sequence Variants That Are Frequent in the Population		604961		CDC	2006												
152464	Y	bipolar disorder schizophrenia	PSYCH	PSY	Schizophrenia	1	1p31	PDE4B	66030780	66612850		Pickard, B. S.  et al. 2007	17417055				Phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001037341	Scottish		CDC GDP info	5142	Hs.198072			Psychiatr Genet    2007    17(3)    129-33	The PDE4B gene confers sex-specific protection against schizophrenia		600127		CDC	2007	The observation that a PDE4B haplotype alters the genetic risk of schizophrenia in the Scottish population complements the known participation of this gene in biological processes associated with mental illness.											
152465	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Intracranial Arteriosclerosis|Heart Diseases|Arterial Occlusive Diseases|Embolism	5	5q12	PDE4D	58301611	59819647			16543535				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	German;Icelandic	Germany|Sweden	CDC GDP info	5144	Hs.591763			J Neurol Neurosurg Psychiatry    2006    77(4)    521-4	Evaluation of single nucleotide polymorphisms in the phosphodiesterase 4D gene (PDE4D) and their association with ischaemic stroke in a large German cohort		600129		CDC	2006	this study was unable to demonstrate an association between the six SNPs which had showed significant single marker association with stroke in the Icelandic stroke cohort and ischaemic stroke in a large German cohort.											
152466	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension	5	5q12	PDE4D	58301611	59819647		Brophy, V. H.  et al. 2006	16675738				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	U.S. Caucasian Women		CDC GDP info	5144	Hs.591763			Stroke    2006	Association of Phosphodiesterase 4D Polymorphisms With Ischemic Stroke in a US Population Stratified by Hypertension Status		600129		CDC	2006	These data are consistent with an association of the PDE4D gene with stroke in a non-Icelandic sample and suggest an effect of hypertension status.		blood pressure									
152467		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Zee, R. Y.  et al. 2006	16825591				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Icelandic		CDC GDP info	5144	Hs.591763			Stroke    2006	Polymorphisms of the Phosphodiesterase 4D, cAMP-Specific (PDE4D) Gene and Risk of Ischemic Stroke. A Prospective, Nested Case-Control Evaluation		600129		CDC	2006	We found modest associations between several PDE4D gene polymorphisms and risk of incident ischemic stroke in men without baseline hypertension in this prospective, non-Icelandic study. Although of borderline statistical significance, the direction and magnitude of the effect for SNP42 parallels that observed in a recent study evaluating women from an independent, nested case-control study.		blood pressure									
152468		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cerebral Infarction	5	5q12	PDE4D	58301611	59819647		Song, Q.  et al. 2006	16835261				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Caucasian		CDC GDP info	5144	Hs.591763			Hum Mol Genet    2006	Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population		600129		CDC	2006			smoking (tobacco)									
152469	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Homma, S.  et al. 2006	17016624				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3			CDC GDP info	5144	Hs.591763			Int J Mol Med    2006    18(5)    933-9	Association of phosphodiesterase 4D gene polymorphisms with chronic obstructive pulmonary disease		600129		CDC	2006												
152471		depressive disorder, major	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Depressive Disorder, Major	21	21q22.3	PDE9A	42946930	43068687		Wong, M. L.  et al. 2006	17008408				Phosphodiesterase 9A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK127770	Mexican;Mexican American		CDC GDP info	5152	Hs.473927			Proc Natl Acad Sci U S A    2006	Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response		602973		CDC	2006	PDE11A has a role in the pathophysiology of MDD.		antidepressants									
152472	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	22	22q12.3-q13.1	PDGFB	37949634	37970936		Bicanski, B.  et al. 2007	17338425				Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002608.1	German;Italian		CDC GDP info	5155	Hs.1976			Clin Nephrol    2007    67(2)    65-72	PDGF-B gene single-nucleotide polymorphisms are not predictive for disease onset or progression of IgA nephropathy		190040		CDC	2007	We conclude that none of the four PDGF-B SNPs is related to the onset of IgAN in two different populations and that none of them has a major influence on the course of IgAN.											
152473	N	stomach cancer	CANCER	CAN	Gastrointestinal Stromal Tumors	4	4q11-q13	PDGFRA	53938619	54859169		Andersson, J.  et al. 2006	16697720				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDP info	5156	Hs.74615			Gastroenterology    2006    130(6)    1573-81	Gastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis		173490		CDC	2006	KIT exon 11 deletion is an independent adverse prognostic factor in patients with GIST.											
152474	Y	heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	4	4q11-q13	PDGFRA	53938619	54859169		Tambur, A. R.  et al. 2006	16730575				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDP info	5156	Hs.74615			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		173490		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
152475	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	4	4q11-q13	PDGFRA	53938619	54859169		Wu, L. S.  et al. 2006	16804324			promoter	Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDP info	5156	Hs.74615			Int Arch Allergy Immunol    2006    141(1)    37-46	Variant in Promoter Region of Platelet-Derived Growth Factor Receptor-alpha (PDGFRalpha) Gene Is Associated with the Severity and Allergic Status of Childhood Asthma		173490		CDC	2006	The developmental deficiency due to the low expression of PDGFRalpha may be one of the susceptible factors for nonallergic asthmatic children.											
152476	N	stomach cancer	PHARMACOGENOMIC	PHARM		4	4q11-q13	PDGFRA	53938619	54859169		Tzen, C. Y.  et al. 2007	17532173				Platelet-derived growth factor receptor, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006206.3			CDC GDP info	5156	Hs.74615			Eur J Surg Oncol    2007	Spectrum and prognostication of KIT and PDGFRA mutation in gastrointestinal stromal tumors		173490		CDC	2007	GISTs were commonly associated with KIT mutation, but rarely associated with PDGFRA mutation in Taiwan.		imatinib									
152478		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	4	4q22	PDLIM5	95592060	95808400		Numata, S.  et al. 2007	17287082				PDZ and LIM domain 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001011513.1			CDC GDP info	10611	Hs.480311			Neurosci Lett    2007	Gene expression in the peripheral leukocytes and association analysis of PDLIM5 gene in schizophrenia				CDC	2007												
152480		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	13	11p13	PDX1	27392156	27397394		Yamada, Y.  et al. 2006	16894468				Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123			CDC GDP info	8050	Hs.502315			Thromb Haemost    2006    96(2)    220-7	Assessment of genetic risk for myocardial infarction		245349		CDC	2006												
152481		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	11p13	PDX1	27392156	27397394		Elbein, S. C.  et al. 2006	17003361			promoter	Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123	African American;CaucFrench		CDC GDP info	8050	Hs.502315			Diabetes    2006    55(10)    2909-14	Role of a Proline Insertion in the Insulin Promoter Factor 1 (IPF1) Gene in African Americans With Type 2 Diabetes		245349		CDC	2006												
152482	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	13	11p13	PDX1	27392156	27397394		Nishihama, K.  et al. 2007	17143557				Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123			CDC GDP info	8050	Hs.502315			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		245349		CDC	2007			diabetes hypercholesterolemia hypertension									
152483		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	11p13	PDX1	27392156	27397394		Gragnoli, C.  et al. 2007	17592437				Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123	European;Italian		CDC GDP info	8050	Hs.502315			Minerva Med    2007    98(3)    163-6	Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population		245349		CDC	2007	So far, this is the largest association study regarding the effect of D76N IPF1 on T2D.											
152484		methamphetamine dependence	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders|Genetic Predisposition to Disease	20	20pter-p12	PDYN	1907401	1922702			16529859				Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2			CDC GDP info	5173	Hs.22584			Neurosci Lett    2006	Genetic variant of prodynorphin gene is risk factor for methamphetamine dependence		131340		CDC	2006												
152485	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	20	20pter-p12	PDYN	1907401	1922702		Xuei, X.  et al. 2006	16924269				Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2	European		CDC GDP info	5173	Hs.22584			Mol Psychiatry    2006	Association of the kappa-opioid system with alcohol dependence		131340		CDC	2006												
152486		alcohol abuse cocaine abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Cocaine-Related Disorders	20	20pter-p12	PDYN	1907401	1922702		Williams, T. J.  et al. 2007	17559549			promoter	Prodynorphin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024411.2	African American;Caucasian		CDC GDP info	5173	Hs.22584			Addict Biol    2007	Prodynorphin gene promoter repeat associated with cocaine/alcohol codependence		131340		CDC	2007												
152488		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	17	17q23	PECAM1	59753594	59817743		Bertinetto, F. E.  et al. 2006	16984283				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		173445		CDC	2006												
152489	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	17	17q23	PECAM1	59753594	59817743		Pieroni, F.  et al. 2006	17113632				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		173445		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
152490		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	17	17q23	PECAM1	59753594	59817743		Humphries, S. E.  et al. 2006	17130180				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		173445		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
152491	P		NORMALVARIATION	NV		17	17q23	PECAM1	59753594	59817743		Robbins, F. M.  et al. 2007	17212705				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			Tissue Antigens    2007    69(1)    28-37	CD31/PECAM-1 genotyping and haplotype analyses show population diversity		173445		CDC	2007												
152492	N	longevity myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease|Inflammation	17	17q23	PECAM1	59753594	59817743		Listi, F.  et al. 2007	17460171				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2	Italian		CDC GDP info	5175	Hs.514412			Ann N Y Acad Sci    2007    1100    132-9	PECAM-1/CD31 in Infarction and Longevity		173445		CDC	2007												
152493	N	osteosarcoma	CANCER	CAN	Osteosarcoma|Recurrence	17	17q23	PECAM1	59753594	59817743		Oliveira, I. D.  et al. 2007	17483704				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			J Pediatr Hematol Oncol    2007    29(5)    293-297	TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma		173445		CDC	2007												
152495	Y	steatohepatitis, nonalcoholic	OTHER	OTH	Fatty Liver|Genetic Predisposition to Disease	17	17p11.2	PEMT	17349601	17435719		Dong, H.  et al. 2007	17391797	PEMT  Val175Met			Phosphatidylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148172.1			CDC GDP info	10400	Hs.287717			J Hepatol    2007	The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population		602391		CDC	2007	Val175Met variant of PEMT could be a candidate molecule that determines the susceptibility to NASH, because it is more frequently observed in NASH patients and non-obese persons with Val175Met variant of PEMT are facilitated to develop NASH.											
152496		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		8	8q23-q24	PENK	57516069	57521703		Comings, D. E.  et al. 2000	11140838				Proenkephalin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006211.2			CDC GDP info	5179	Hs.339831			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		131330		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152498		ophthalmoplegia Parkinson's disease	NEUROLOGICAL	NEUR	Ophthalmoplegia, Chronic Progressive External|Parkinsonian Disorders|Abnormalities, Multiple	10	10q23.3-q24.3	PEO1	102737301	102744148		Hudson, G.  et al. 2007	17420318				Progressive external ophthalmoplegia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640829			CDC GDP info	56652	Hs.22678			Arch Neurol    2007    64(4)    553-557	Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism		606075		CDC	2007	Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.											
152499	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	17	17p13.1-17p12	PER1	7984514	7996427			16528748				Period homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			CDC GDP info	5187	Hs.445534			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		602260		CDC	2006												
152500		diurnal preference	OTHER	OTH	Sleep Disorders, Circadian Rhythm	17	17p13.1-17p12	PER1	7984514	7996427		Carpen, J. D.  et al. 2006	17051316				Period homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			CDC GDP info	5187	Hs.445534			J Hum Genet    2006	A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans		602260		CDC	2006												
152501		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease|Paranoid Disorders	17	17p13.1-17p12	PER1	7984514	7996427		Malison, R. T.  et al. 2006	17106427				Period homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			CDC GDP info	5187	Hs.445534			Psychiatr Genet    2006    16(6)    245-249	Human clock, PER1 and PER2 polymorphisms		602260		CDC	2006												
152502	Y	autism	PSYCH	PSY	Autistic Disorder	17	17p13.1-17p12	PER1	7984514	7996427		Nicholas, B.  et al. 2007	17264841				Period homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002616.1			CDC GDP info	5187	Hs.445534			Mol Psychiatry    2007	Association of Per1 and Npas2 with autistic disorder		602260		CDC	2007												
152503	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	2	2q37.3	PER2	238817417	238861946			16528748				Period homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022817.1			CDC GDP info	8864	Hs.58756			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		603426		CDC	2006												
152504		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease|Paranoid Disorders	2	2q37.3	PER2	238817417	238861946		Malison, R. T.  et al. 2006	17106427				Period homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022817.1			CDC GDP info	8864	Hs.58756			Psychiatr Genet    2006    16(6)    245-249	Human clock, PER1 and PER2 polymorphisms		603426		CDC	2006												
152505	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	1	1p36.23	PER3	7766966	7827824			16528748				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDP info	8863	Hs.533339			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		603427		CDC	2006												
152506	Y	diurnal preference	AGING	AGE		1	1p36.23	PER3	7766966	7827824		Jones, K. H.  et al. 2007	17309758				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDP info	8863	Hs.533339			J Sleep Res    2007    16(1)    12-6	Age-related change in the association between a polymorphism in the PER3 gene and preferred timing of sleep and waking activities		603427		CDC	2007												
152507		sleep homeostasis	NEUROLOGICAL	NEUR		1	1p36.23	PER3	7766966	7827824		Viola, A. U.  et al. 2007	17346965				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDP info	8863	Hs.533339			Curr Biol    2007	PER3 Polymorphism Predicts Sleep Structure and Waking Performance		603427		CDC	2007												
152508	Y	heroin abuse	CHEMDEPENDENCY	CHEM		1	1p36.23	PER3	7766966	7827824		Zou, Y.  et al. 2007	17451453				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDP info	8863	Hs.533339			Genes Brain Behav    2007	Association of the 54-nucleotide repeat polymorphism of hPer3 with heroin dependence in Han Chinese population		603427		CDC	2007												
152509		mood disorders	PSYCH	PSY	Chronobiology Disorders|Mood Disorders	1	1p36.23	PER3	7766966	7827824		Artioli, P.  et al. 2007	17512705				Period homolog 3 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016831.1			CDC GDP info	8863	Hs.533339			Eur Neuropsychopharmacol    2007	How do genes exert their role? Period 3 gene variants and possible influences on mood disorder phenotypes		603427		CDC	2007												
152510	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12	PERLD1	35080900	35097836		Benusiglio, P. R.  et al. 2006	17117180				Per1-like domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057911			CDC GDP info	93210	Hs.462971			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer				CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
152511	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	6	6p21.3-p21.1	PGC	41812429	41829825		Pinto-Correia, A. L.  et al. 2006	16937501				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1	Caucasian;Asian		CDC GDP info	5225	Hs.1867			World J Gastroenterol    2006    12(31)    5033-5036	Gastric cancer in a Caucasian population		169740		CDC	2006	Our study reveals that the Allele 6 carrier status has a protective role in the development of gastric lesions, probably due to its association with higher expression of PGC.											
152512		gastritis stomach cancer	CANCER	CAN		6	6p21.3-p21.1	PGC	41812429	41829825		Sun, L. P.  et al. 2006	17288837				Progastricsin (pepsinogen C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002630.1			CDC GDP info	5225	Hs.1867			Zhonghua Yi Xue Za Zhi    2006    86(43)    3059-63	Correlation between an insertion-deletion polymorphism in the pepsinogen C gene and gastric cancer as well as its precursors.		169740		CDC	2006	PGC gene polymorphism may be associated with susceptibility to gastric cancer and atrophic gastritis.		Helicobacter pylori									
152514	P		CANCER	CAN	Neoplasms	11	11q22-q23	PGR	100414312	100506465		Yoshimura, K.  et al. 2003	14634838				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDP info	5241	Hs.368072			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		607311		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152516	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Pooley, K. A.  et al. 2006	16614108	PGR 660L allele			Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDP info	5241	Hs.368072			Cancer Epidemiol Biomarkers Prev    2006    15(4)    675-82	Association of the progesterone receptor gene with breast cancer risk		607311		CDC	2006	the 660L allele may be associated with a moderately increased risk of breast cancer, but that other common SNPs in the PGR gene are unlikely to be associated with a substantial risk of breast cancer.											
152517		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	11	11q22-q23	PGR	100414312	100506465		Rebbeck, T. R.  et al. 2006	16985250				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2		Philadelphia	CDC GDP info	5241	Hs.368072			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		607311		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
152518		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		Breast Cancer Association, = Consortium  et al. 2006	17018785				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDP info	5241	Hs.368072			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		607311		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
152519		endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	11	11q22-q23	PGR	100414312	100506465		De Carvalho, C. V.  et al. 2007	17484509				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDP info	5241	Hs.368072			Gynecol Endocrinol    2007    23(1)    29-33	Genetic polymorphisms of cytochrome P450cl7alpha (CYP17) and progesterone receptor genes (PROGINS) in the assessment of endometriosis risk		607311		CDC	2007												
152520	Y	vertigo, migraine-associated	NEUROLOGICAL	NEUR	Vertigo|Migraine Disorders	11	11q22-q23	PGR	100414312	100506465		Lee, H.  et al. 2007	17609999				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2			CDC GDP info	5241	Hs.368072			Neurogenetics    2007	Association of progesterone receptor with migraine-associated vertigo		607311		CDC	2007												
152521		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	PHB	44836418	44847241		Jakubowska, A.  et al. 2006	17004108			3' untranslated region	Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2			CDC GDP info	5245	Hs.514303			Breast Cancer Res Treat    2006	The 3' untranslated region C > T polymorphism of prohibitin is a breast cancer risk modifier in Polish women carrying a BRCA1 mutation		176705		CDC	2006												
152522	N	ovarian cancer	CANCER	CAN		17	17q21	PHB	44836418	44847241		Grimm, C.  et al. 2007	17544200			3' untranslated region	Prohibitin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002634.2	Caucasian		CDC GDP info	5245	Hs.514303			Eur J Obstet Gynecol Reprod Biol    2007	The prohibitin 3' untranslated region polymorphism in patients with ovarian cancer		176705		CDC	2007												
152523	Y	brain cancer	CANCER	CAN	Neuroblastoma|Hirschsprung Disease|Hypoventilation	4	4p12	PHOX2B	41440856	41445744		McConville, C.  et al. 2006	16691592				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2		Great Britain	CDC GDP info	8929	Hs.87202			Am J Med Genet A    2006    140(12)    1297-301	PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations		603851		CDC	2006												
152524	P		NORMALVARIATION	NV	Hypoventilation|Genetic Predisposition to Disease	4	4p12	PHOX2B	41440856	41445744		Hung, C. C.  et al. 2007	17300129				Paired-like homeobox 2b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003924.2			CDC GDP info	8929	Hs.87202			Electrophoresis    2007	Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE		603851		CDC	2007												
152525	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q13.1	PICK1	36783207	36801654		Ishiguro, H.  et al. 2007	17367885				Protein interacting with PRKCA 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092818			CDC GDP info	9463	Hs.180871			Neurosci Res    2007	PICK1 is not a susceptibility gene for schizophrenia in a Japanese population		605926		CDC	2007	the common haplotypes and polymorphisms of the PICK1 gene identified thus far are unlikely to contribute to genetic susceptibility to schizophrenia in the Japanese population.											
152527		breast cancer colorectal cancer stomach cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Lee, J. W.  et al. 2006	16397024				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			Clin Cancer Res    2006    12(1)    57-61	Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas		171834		CDC	2006	This study showed that in addition to lung adenocarcinomas, ERBB2 kinase domain mutation occurs in other common human cancers such as gastric, breast, and colorectal cancers, and suggested that alterations of ERBB2-mediated signaling pathway by ERBB2 mutations alone or together with K-RAS mutations may contribute to the development of human cancers.											
152528		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Lievre, A.  et al. 2006	16618717				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			Cancer Res    2006    66(8)    3992-5	KRAS Mutation Status Is Predictive of Response to Cetuximab Therapy in Colorectal Cancer		171834		CDC	2006	in this study, KRAS mutations are a predictor of resistance to cetuximab therapy and are associated with a worse prognosis.		cetuximab									
152529		colorectal cancer endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Ollikainen, M.  et al. 2007	17471559				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			Int J Cancer    2007	Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma		171834		CDC	2007												
152530		lung cancer	CANCER	CAN		3	3q26.3	PIK3CA	180349004	180435191		Marks, J. L.  et al. 2007	17487277				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		171834		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
152532	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3q26.3	PIK3CA	180349004	180435191		Kato, S.  et al. 2007	17590872				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			Int J Cancer    2007	PIK3CA mutation is predictive of poor survival in patients with colorectal cancer		171834		CDC	2007												
152533		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19p13	PIN1	9806998	9821358		Lambert, J. C.  et al. 2006	16701948				Protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006221.2	French		CDC GDP info	5300	Hs.465849			Neurosci Lett    2006	Association study of the PIN1 gene with Alzheimer's disease		601052		CDC	2006												
152534		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19p13	PIN1	9806998	9821358		Nowotny, P.  et al. 2007	17482359				Protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006221.2			CDC GDP info	5300	Hs.465849			Neurosci Lett    2007	Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease		601052		CDC	2007												
152535		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Tan, E. K.  et al. 2006	16482571				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1	Chinese;Indian;Asian		CDC GDP info	65018	Hs.389171			Mov Disord    2006	PINK1 mutations in sporadic early-onset Parkinson's disease		608309		CDC	2006												
152536		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p36	PINK1	20832534	20850591		Abou-Sleiman, P. M.  et al. 2006	16969854				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDP info	65018	Hs.389171			Ann Neurol    2006    60(4)    414-9	A heterozygous effect for PINK1 mutations in Parkinson's disease?		608309		CDC	2006												
152537	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p36	PINK1	20832534	20850591		Wang, F.  et al. 2006	17084972				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1		China	CDC GDP info	65018	Hs.389171			Neurosci Lett    2006	A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese		608309		CDC	2006												
152539	Y	Parkinson's disease	NEUROLOGICAL	NEUR		1	1p36	PINK1	20832534	20850591		Wang, F.  et al. 2007	17557243				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1			CDC GDP info	65018	Hs.389171			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    305-9	PINK1 IVS5-5 G>A polymorphism may contribute to the risk of late onset Parkinson disease in Chinese.		608309		CDC	2007	The authors provide the first evidence that the common genetic variation PINK1 IVS5-5G>A may contribute to the risk of LOPD in Chinese population.											
152540	Y	schizophrenia	PSYCH	PSY	Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490		Schwab, S. G.  et al. 2006	16801950				Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3			CDC GDP info	5305	Hs.588901			Mol Psychiatry    2006	Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia		603140		CDC	2006												
152541	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490	not significant	Jamra, R. A.  et al. 2006	16823801		no functional effect of the studies variants.		Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3	European, German		CDC GDP info	5305	Hs.588901			Am J Med Genet B Neuropsychiatr Genet    2006	Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder	rs1053454, PIP5K2A_46203 (4194bp telomeric from rs1053454), rs943194, rs1539628, rs997650, rs1417374	603140		CDC	2006	We did not confirm the association reported by Stopkova et al. (2003) and Sewekow et al. (2003)											
152542	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490		Bakker, S. C.  et al. 2007	17410640				Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3			CDC GDP info	5305	Hs.588901			Genes Brain Behav    2007    6(2)    113-9	The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia		603140		CDC	2007	our data provide further evidence that specific genes may be involved in different schizophrenia subtypes and suggest that the PIP5K2A gene deserves further study as a general susceptibility gene for schizophrenia.											
152543		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10p12.32	PIP5K2A	22865827	23043490		He, Z.  et al. 2007	17555944				Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005028.3	Chinese;German;Israeli		CDC GDP info	5305	Hs.588901			Schizophr Res    2007	The PIP5K2A gene and schizophrenia in the Chinese population - A case-control study		603140		CDC	2007												
152545	Y	stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Intracranial Hemorrhages|Atherosclerosis|Thrombosis|Genetic Predisposition to Disease	16	16p13.3	PKD1	2078711	2125900		Yamada, Y.  et al. 2006	16741147	PKD1-like G-->A (Gly243Asp)			Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1			CDC GDP info	5310	Hs.75813	subarachnoid hemorrhage		Arterioscler Thromb Vasc Biol    2006	Genetic Risk for Ischemic and Hemorrhagic Stroke		601313		CDC	2006	IL6 genotype may be useful in assessing the genetic risk for atherothrombotic cerebral infarction and intracerebral hemorrhage, and genotypes for UCP3, TNF, and PKD1-like may be similarly beneficial in assessment of the risk for subarachnoid hemorrhage. Validation of our findings will require additional studies with independent subject panels.											
152547		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	4	4q21-q23	PKD2	89147843	89217953		Tazon-Vega, B.  et al. 2007	17303584				Polycystic kidney disease 2 (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000297.2	European		CDC GDP info	5311	Hs.181272			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		173910		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
152548		lipoprotein associated phospholipase A2 activity	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus	16	16p13.1-p12	PLA2G10	14673905	14696027		Wootton, P. T.  et al. 2006	16438975				Phospholipase A2, group X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003561	Caucasian		CDC GDP info	8399	Hs.567366			Atherosclerosis    2006	Lp-PLA2 activity and PLA2G7 A379V genotype in patients with diabetes mellitus		603603		CDC	2006												
152549	N	cholesterol, LDL sPLA2-IIA mass	METABOLIC	MET		1	1p35	PLA2G2A	20174517	20179496		Wootton, P. T.  et al. 2007	17545304				Phospholipase A2, group IIA (platelets, synovial fluid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000300.2			CDC GDP info	5320	Hs.466804			Hum Mol Genet    2007    16(12)    1437-44	Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA		172411		CDC	2007	PLA2G5 tSNP haplotypes demonstrate an association with total and LDL cholesterol and oxLDL/LDL, not seen with PLA2G2A, thus confirming distinct functional roles for these two sPLA2s.											
152550	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1q25	PLA2G4A	185064654	185224736		Dikeos, D. G.  et al. 2006	16829784				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1	German		CDC GDP info	5321	Hs.497200			Psychiatr Genet    2006    16(4)    169-171	Lack of genetic association between the phospholipase A2 gene and bipolar mood disorder in a European multicentre case-control study		600522		CDC	2006												
152551	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	1	1q25	PLA2G4A	185064654	185224736		Klotsman, M.  et al. 2007	17460547				Phospholipase A2, group IVA (cytosolic, calcium-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024420.1			CDC GDP info	5321	Hs.497200			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		600522		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
152552	Y	cholesterol, LDL sPLA2-IIA mass	METABOLIC	MET		1	1p36-p34	PLA2G5	20227258	20290981		Wootton, P. T.  et al. 2007	17545304				Phospholipase A2, group V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000929			CDC GDP info	5322	Hs.319438			Hum Mol Genet    2007    16(12)    1437-44	Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA		601192		CDC	2007	PLA2G5 tSNP haplotypes demonstrate an association with total and LDL cholesterol and oxLDL/LDL, not seen with PLA2G2A, thus confirming distinct functional roles for these two sPLA2s.											
152553	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	6	6p21.2-p12	PLA2G7	46780236	46811055		Jang, Y.  et al. 2006	16787988	F279 loss of function variant			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Korean		CDC GDP info	7941	Hs.584823			J Clin Endocrinol Metab    2006	The Val279Phe variant of the lipoprotein-associated phospholipase A2 gene is associated with catalytic activities and cardiovascular disease in Korean men		601690		CDC	2006	The association of the F279 loss of function variant with the reduced risk of CVD supports the concept that Lp-PLA(2) plays a proatherogenic and causative role in CVD.		lipid lowering drug									
152555	Y	body mass	METABOLIC	MET	Obesity	6	6p21.2-p12	PLA2G7	46780236	46811055		Wootton, P. T.  et al. 2007	17174223	PLA2G7  A379V			Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2	Caucasian		CDC GDP info	7941	Hs.584823			Nutr Metab Cardiovasc Dis    2007    17(1)    24-31	Lipoprotein-associated phospholipase A2 A379V variant is associated with body composition changes in response to exercise training		601690		CDC	2007			physical activity									
152556	N	diabetes, type 2	METABOLIC	MET	Infant, Newborn, Diseases|Diabetes Mellitus|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6q24-q25	PLAGL1	144303129	144427428		Gloyn, A. L.  et al. 2006	16873690				Pleiomorphic adenoma gene-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749329			CDC GDP info	5325	Hs.444975			Diabetes    2006    55(8)    2272-6	Assessment of the Role of Common Genetic Variation in the Transient Neonatal Diabetes Mellitus (TNDM) Region in Type 2 Diabetes		603044		CDC	2006	common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes.											
152558		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	8	8p12	PLAT	42151909	42184351		Falkowski, A.  et al. 2005	16466010				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDP info	5327	Hs.491582			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		173370		CDC	2005			streptokinase									
152559		fibrinogen heart disease, ischemic tissue plasminogen activator level	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Thrombosis|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Kathiresan, S.  et al. 2006	16614319				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDP info	5327	Hs.491582			Arterioscler Thromb Vasc Biol    2006	Common Genetic Variation in Five Thrombosis Genes and Relations to Plasma Hemostatic Protein Level and Cardiovascular Disease Risk		173370		CDC	2006	A comprehensive survey of common sequence variation demonstrates that cis-regulatory SNPs explain a modest proportion of the residual variance in circulating fibrinogen and factor VII level and PLAT haplotypes increase the risk of CVD. Additional studies are warranted to confirm the association of PLAT sequence variation and risk of CVD.											
152560		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Shibata, N.  et al. 2006	16828203				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Hispanic ;Canadian;European		CDC GDP info	5327	Hs.491582			Neurobiol Aging    2006	Association studies between the plasmin genes and late-onset Alzheimer's disease		173370		CDC	2006												
152561	N	tissue plasminogen activator release	CARDIOVASCULAR	CARD	Coronary Disease	8	8p12	PLAT	42151909	42184351		Robinson, S. D.  et al. 2006	16836660				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDP info	5327	Hs.491582			J Thromb Haemost    2006	Tissue plasminogen activator genetic polymorphisms do not influence tissue plasminogen activator release in patients with coronary heart disease		173370		CDC	2006	Despite confirming our previous findings in cigarette smokers, we have found no effect of polymorphisms of the t-PA gene on two complementary aspects of endothelial function. We conclude that genetic variation of the t-PA locus is unlikely to have a major influence on acute t-PA release in subjects with established CHD.											
152562		stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Thrombosis|Ischemia|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Saito, K.  et al. 2006	16953275				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDP info	5327	Hs.491582			Thromb Haemost    2006    96(3)    331-6	Haplotypes of the plasminogen activator gene associated with ischemic stroke		173370		CDC	2006												
152564		periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Emingil, G.  et al. 2007	17257155				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Turkish		CDC GDP info	5327	Hs.491582			J Clin Periodontol    2007	Gene polymorphisms of tissue plasminogen activator and plasminogen activator inhibitor-1 in Turkish patients with generalized aggressive periodontitis		173370		CDC	2007	These data suggest that the D polymorphic allele of TPA gene polymorphism could be associated with susceptibility to G-AgP in Turkish subjects.											
152565			NORMALVARIATION	NV		8	8p12	PLAT	42151909	42184351		Falchi, A.  et al. 2007	17320454				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2			CDC GDP info	5327	Hs.491582			Leg Med (Tokyo)    2007	Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations		173370		CDC	2007												
152566	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Gurkan, A.  et al. 2007	17608581				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	Turkish		CDC GDP info	5327	Hs.491582			J Periodontol    2007    78(7)    1256-1263	Tissue Plasminogen Activator and Plasminogen Activator Inhibitor-1 Gene Polymorphisms in Patients With Chronic Periodontitis		173370		CDC	2007			smoking (tobacco)									
152568	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Riemenschneider, M.  et al. 2006	16825285				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDP info	5328	Hs.77274			Hum Mol Genet    2006	A functional polymorphism within plasminogen activator urokinase (PLAU) is associated with Alzheimer's disease		191840		CDC	2006												
152569	Y	bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	10	10q24	PLAU	75340895	75347261		Manchanda, P. K.  et al. 2006	16825821				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDP info	5328	Hs.77274			Urol Int    2006    77(1)    81-4	Association of Urokinase Gene 3'-UTR T/C Polymorphism with Bladder Cancer		191840		CDC	2006	There was a significant difference in the frequency distribution of the urokinase gene 3\-UTR C/T polymorphism in bladder cancer patients as compared to the normal control group (p < 0.05), but no significant difference in allelic frequencies or in carriage rates between bladder cancer patients and normal controls were observed. Our study suggests that uroki											
152571		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Pesaresi, M.  et al. 2006	17174555				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Italian	Italy	CDC GDP info	5328	Hs.77274			Neurobiol Dis    2006	The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level		191840		CDC	2006												
152572		prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24	PLAU	75340895	75347261		Mittal, R. D.  et al. 2005	17192053				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Indian		CDC GDP info	5328	Hs.77274			Cancer Biomark    2005    1(6)    287-92	Is urokinase gene 3'-UTR polymorphism associated with prostate cancer?		191840		CDC	2005			smoking (tobacco)									
152573		asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Begin, P.  et al. 2007	17363771				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2	Canadian;French;Quebec	Quebec	CDC GDP info	5328	Hs.77274			Am J Respir Crit Care Med    2007	Association of Urokinase-type Plasminogen Activator with Asthma and Atopy		191840		CDC	2007	This suggests a role for the uPA pathway in the pathogenesis of the disease.											
152574	Y	bone density	METABOLIC	MET	Alveolar Bone Loss|Diabetes Mellitus, Type 2|Chronic Disease	10	10q24	PLAU	75340895	75347261		Decarlo, A. A.  et al. 2007	17559626				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDP info	5328	Hs.77274			J Periodontal Res    2007    42(4)    305-10	Association of gene polymorphisms for plasminogen activators with alveolar bone loss		191840		CDC	2007	The urokinase plasminogen activator (BamHI) and plasminogen activator inhibitor type 1 (HindIII) genotypes may serve as useful markers for heritability of bone loss associated with periodontal disease.											
152576		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	20	20q12-q13.1	PLCG1	39199574	39237771		Harbo, H. F.  et al. 2006	16764945				Phospholipase C, gamma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002660.2	Norwegian		CDC GDP info	5335	Hs.268177			J Neuroimmunol    2006    177(1-2)    40-5	Coding region polymorphisms in T cell signal transduction genes. Prevalence and association to development of multiple sclerosis		172420		CDC	2006												
152577		age-related maculopathy	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	10	10q26.13	PLEKHA1	124124209	124181856		Conley, Y. P.  et al. 2006	17000705				Pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021622.3			CDC GDP info	59338	Hs.643512			Hum Mol Genet    2006	CFH, ELOVL4, PLEKHA1, and LOC387715 genes and susceptibility to Age-Related Maculopathy		607772		CDC	2006												
152579		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6q26	PLG	161043272	161094328		Shibata, N.  et al. 2006	16828203				Plasminogen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000301.1	Hispanic ;Canadian;European		CDC GDP info	5340	Hs.143436			Neurobiol Aging    2006	Association studies between the plasmin genes and late-onset Alzheimer's disease		173350		CDC	2006												
152580	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	6	6q26	PLG	161043272	161094328		Carlson, C. S.  et al. 2006	17115186				Plasminogen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000301.1			CDC GDP info	5340	Hs.143436			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		173350		CDC	2006												
152581	Y	abdominal fat fatty acid glucose tolerance insulin lipids prostaglandin	METABOLIC	MET	Obesity|Weight Loss	15	15q26	PLIN	88008602	88023595		Jang, Y.  et al. 2006	16585946				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3	Korean		CDC GDP info	5346	Hs.103253			Int J Obes (Lond)    2006    30(11)    1601-8	Genetic variation at the perilipin locus is associated with changes in serum free fatty acids and abdominal fat following mild weight loss		170290		CDC	2006	Fasting plasma FFA changes following a modest weight loss in overweight-obese subjects are influenced by the genetic variability at the PLIN locus. Furthermore, circulating FFA changes rather than body fat itself may determine changes in lipid peroxides such as urinary PGF(2alpha) and oxidized LDL.		weight loss									
152583	Y	weight gain	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2|Weight Gain	15	15q26	PLIN	88008602	88023595		Kang, E. S.  et al. 2006	16732015				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3			CDC GDP info	5346	Hs.103253			Diabetes Care    2006    29(6)    1320-4	The 11482G>A Polymorphism in the Perilipin Gene Is Associated With Weight Gain With Rosiglitazone Treatment in Type 2 Diabetes		170290		CDC	2006	These data suggest that genetic variations in the perilipin gene can affect weight gain associated with rosiglitazone treatment in patients with type 2 diabetes.		rosiglitazone									
152584	Y	bone density	METABOLIC	MET	Osteoporosis	15	15q26	PLIN	88008602	88023595		Yamada, Y.  et al. 2006	16786163				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3			CDC GDP info	5346	Hs.103253			Int J Mol Med    2006    18(1)    119-27	Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals		170290		CDC	2006												
152585	N	diabetes, type 2 glucose insulin leptin lipids obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	15	15q26	PLIN	88008602	88023595		Meirhaeghe, A.  et al. 2006	16836753				Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3	French		CDC GDP info	5346	Hs.103253			J Negat Results Biomed    2006    5(1)    10	Study of the impact of perilipin polymorphisms in a French population		170290		CDC	2006	The rs4578621 and rs894160 polymorphisms of the perilipin gene are not major genetic determinants of obesity and type 2 diabetes-related phenotypes in a random sample of French men and women.											
152586	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	6	6q22.1	PLN	118976164	118988280		Dewitt, M. M.  et al. 2006	17010801				Phospholamban	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002667.2			CDC GDP info	5350	Hs.170839			J Am Coll Cardiol    2006    48(7)    1396-8	Phospholamban r14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy		172405		CDC	2006	The identical PLN mutation can be associated with both mild and severe forms of dilated cardiomyopathy.											
152588	Y	bone density	METABOLIC	MET	Genetic Predisposition to Disease	1	1p36.3-p36.2	PLOD1	11917332	11958181		Yamada, Y.  et al. 2007	17390085				Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000302.2			CDC GDP info	5351	Hs.75093			Int J Mol Med    2007    19(5)    791-801	Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men		153454		CDC	2007												
152589		leukodystrophies	NEUROLOGICAL	NEUR	Hereditary Central Nervous System Demyelinating Diseases	X	Xq22	PLP1	102918409	102934203		Combes, P.  et al. 2006	16416265				proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000533.3			CDC GDP info	5354	Hs.1787			Neurogenetics    2006    7(1)    31-7	PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies		300401		CDC	2006												
152591	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		20	20q12-q13.1	PLTP	43960803	43974193		Bauerfeind, A.  et al. 2006	16770077				Phospholipid transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006227.2	Caucasian;German		CDC GDP info	5360	Hs.439312			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		172425		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
152592	Y	bone density fractures, vertebral osteoporosis, postmenopausal	METABOLIC	MET	Osteoporosis, Postmenopausal|Spinal Fractures|Body Weight	1	1q32.2	PLXNA2	206262210	206484288		Hwang, J. Y.  et al. 2006	16932874				Plexin A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025179			CDC GDP info	5362	Hs.497626			Osteoporos Int    2006	Association of PLXNA2 polymorphisms with vertebral fracture risk and bone mineral density in postmenopausal Korean population		601054		CDC	2006	These results provide, for the first time, evidence supporting the association of PLXNA2 with osteoporosis in postmenopausal women.											
152593	Y	anxiety depression neuroticism psychological distress	PSYCH	PSY	Genetic Predisposition to Disease|Diseases in Twins|Anxiety Disorders|Depressive Disorder, Major|Neurotic Disorders|Personality Disorders	1	1q32.2	PLXNA2	206262210	206484288		Wray, N. R.  et al. 2007	17339520				Plexin A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025179		Australia	CDC GDP info	5362	Hs.497626			Arch Gen Psychiatry    2007    64(3)    318-326	Anxiety and Comorbid Measures Associated With PLXNA2		601054		CDC	2007	PLXNA2 is a candidate for causal variation in anxiety and in other psychiatric disorders through its comorbidity with anxiety.											
152594	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q32.2	PLXNA2	206262210	206484288		Fujii, T.  et al. 2007	17346868				Plexin A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025179	Japanese;European		CDC GDP info	5362	Hs.497626			Prog Neuropsychopharmacol Biol Psychiatry    2007	Failure to confirm an association between the PLXNA2 gene and schizophrenia in a Japanese population		601054		CDC	2007												
152596	P	Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease	17	17p12-p11.2	PMP22	15073820	15109369		Song, S.  et al. 2006	16912585				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			CDC GDP info	5376	Hs.372031			Genet Med    2006    8(8)    532-5	Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients		601097		CDC	2006	The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population.											
152597	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2q31-q33|2q31.1	PMS1	190357354	190450600		Song, H.  et al. 2006	16774946				PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749432			CDC GDP info	5378	Hs.111749			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		600258		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
152598	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	2	2q31-q33|2q31.1	PMS1	190357354	190450600		Michiels, S.  et al. 2007	17494052				PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749432	Caucasian		CDC GDP info	5378	Hs.111749			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		600258		CDC	2007												
152600	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	7	7p22.2	PMS2	5977082	6015263		Song, H.  et al. 2006	16774946				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4			CDC GDP info	5395	Hs.632637			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		600259		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
152601		endometrial cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Endometrial Neoplasms	7	7p22.2	PMS2	5977082	6015263		Hampel, H.  et al. 2006	16885385				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4			CDC GDP info	5395	Hs.632637			Cancer Res    2006    66(15)    7810-7	Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients		600259		CDC	2006	in central Ohio, at least 1.											
152603		colorectal cancer	CANCER	CAN	Colonic Neoplasms	7	7p22.2	PMS2	5977082	6015263		Schafmayer, C.  et al. 2007	17417778				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4	German		CDC GDP info	5395	Hs.632637			Int J Cancer    2007	Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer		600259		CDC	2007												
152604		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		17	17q21-q22	PNMT	35078032	35080254		Comings, D. E.  et al. 2000	11140838				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDP info	5409	Hs.1892			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		171190		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152605	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17q21-q22	PNMT	35078032	35080254		Brookes, K. et al  et al. 2006	16894395				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDP info	5409	Hs.1892			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		171190		CDC	2006												
152606	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21-q22	PNMT	35078032	35080254		Benusiglio, P. R.  et al. 2006	17117180				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDP info	5409	Hs.1892			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		171190		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
152608	Y	diabetes, type 2 fatty acid triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	11	11p15.5	PNPLA2	808901	815217		Schoenborn, V.  et al. 2006	16644682				Patatin-like phospholipase domain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY203925	European	Utah	CDC GDP info	57104	Hs.654697			Diabetes    2006    55(5)    1270-5	The ATGL Gene Is Associated With Free Fatty Acids, Triglycerides, and Type 2 Diabetes		609059		CDC	2006												
152609		obesity	METABOLIC	MET	Obesity	22	22q13.31	PNPLA3	42650951	42674781		Johansson, L. E.  et al. 2006	16505250				Patatin-like phospholipase domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL138578			CDC GDP info	80339	Hs.654800			Diabetes    2006    55(3)    826-33	Variation in the adiponutrin gene influences its expression and associates with obesity				CDC	2006												
152610		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	7	7q32-q33	PODXL	130835560	130891908		Casey, G.  et al. 2006	16434482				Podocalyxin-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641124			CDC GDP info	5420	Hs.16426			Hum Mol Genet    2006    15(5)    735-41	Podocalyxin variants and risk of prostate cancer and tumor aggressiveness		602632		CDC	2006												
152612	Y	breast cancer	CANCER	CAN	Breast Neoplasms	8	8p11.2	POLB	42315186	42348470		Sliwinski, T.  et al. 2006	17131038				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1			CDC GDP info	5423	Hs.521563			Breast Cancer Res Treat    2006	Polymorphisms of the DNA polymerase beta gene in breast cancer		174760		CDC	2006	Polbeta may play a role in the breast carcinogenesis and the Lys289Met polymorphism of the polbeta gene may be considered as an independent, early, molecular diagnostic marker in breast cancer.											
152613		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	8	8p11.2	POLB	42315186	42348470		Figueroa, J. D.  et al. 2007	17203305				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1			CDC GDP info	5423	Hs.521563			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		174760		CDC	2007												
152614		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	8	8p11.2	POLB	42315186	42348470		Li, D.  et al. 2007	17230526				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1			CDC GDP info	5423	Hs.521563			Int J Cancer    2007	Effects of base excision repair gene polymorphisms on pancreatic cancer survival		174760		CDC	2007												
152615		colorectal cancer	CANCER	CAN	Adenomyoma|Colorectal Neoplasms	8	8p11.2	POLB	42315186	42348470		Berndt, S. I.  et al. 2007	17283177				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1	Caucasian	United States	CDC GDP info	5423	Hs.521563			Cancer Res    2007    67(3)    1395-404	Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma		174760		CDC	2007												
152616		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.3	POLD1	55579407	55613082		Figueroa, J. D.  et al. 2007	17203305				Polymerase (DNA directed), delta 1, catalytic subunit 125kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002691.1			CDC GDP info	5424	Hs.279413			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		174761		CDC	2007												
152617	P		NORMALVARIATION	NV		15	15q25	POLG	87660552	87679030		Malyarchuk, B. A.  et al. 2005	16392637				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDP info	5428	Hs.592016			Hum Biol    2005    77(3)    355-65	Low variability of the POLG (CAG)n repeat in north Eurasian populations		174763		CDC	2005												
152619	N	oligospermia	REPRODUCTION	REP	Infertility, Male|Oligospermia	15	15q25	POLG	87660552	87679030		Brusco, A.  et al. 2006	16553026				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1	Italian		CDC GDP info	5428	Hs.592016			J Endocrinol Invest    2006    29(1)    1-4	The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia		174763		CDC	2006												
152620		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	15	15q25	POLG	87660552	87679030		Tiangyou, W.  et al. 2006	16943369				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1	Italian		CDC GDP info	5428	Hs.592016			Neurology    2006    67(9)    1698-700	POLG1 in idiopathic Parkinson disease		174763		CDC	2006												
152621		infertility, male	REPRODUCTION	REP	Infertility, Male	15	15q25	POLG	87660552	87679030		Yao, N.  et al. 2006	16970152				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1	Chinese;European	China	CDC GDP info	5428	Hs.592016			Zhonghua Nan Ke Xue    2006    12(8)    681-4, 688	CAG repeats of DNA polymerase gamma in Chinese males and relationship of idiopathic male infertility to CAG repeats		174763		CDC	2006	Our findings have shown for the first time that there exits an ethnic difference between Chinese and European males in the number of CAG repeats of Polg gene, and that 10/not 10 CAG genotype may affect sperm motility.											
152622	N	ataxia (SCA)	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias|Spinocerebellar Degenerations|Genetic Predisposition to Disease	15	15q25	POLG	87660552	87679030		Lee, Y. C.  et al. 2007	17300808				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1		Taiwan	CDC GDP info	5428	Hs.592016			J Neurol Sci    2007	Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan		174763		CDC	2007	The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. Routine screening for these mutations in ataxia patients with Chinese origin is of limited clinical value.											
152623		ophthalmoplegia Parkinson's disease	NEUROLOGICAL	NEUR	Ophthalmoplegia, Chronic Progressive External|Parkinsonian Disorders|Abnormalities, Multiple	15	15q25	POLG	87660552	87679030		Hudson, G.  et al. 2007	17420318				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDP info	5428	Hs.592016			Arch Neurol    2007    64(4)    553-557	Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism		174763		CDC	2007	Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.											
152624	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	17	17q	POLG2	59904363	59923631		Huang, H.  et al. 2006	16697732				Polymerase (DNA directed), gamma 2, accessory subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007215			CDC GDP info	11232	Hs.437009			Gastroenterology    2006    130(6)    1679-87	Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C		604983		CDC	2006	Subjects with CHC carrying DDX5 minor allele or DDX5-POLG2 haplotypes are at an increased risk of developing advanced fibrosis, whereas those carrying the CPT1A minor allele are at a decreased risk.											
152625	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	17	17q	POLG2	59904363	59923631		Michiels, S.  et al. 2007	17494052				Polymerase (DNA directed), gamma 2, accessory subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007215	Caucasian		CDC GDP info	11232	Hs.437009			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		604983		CDC	2007												
152627	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	4	4q12	POLR2B	57539865	57592091		Michiels, S.  et al. 2007	17494052				Polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC023503	Caucasian		CDC GDP info	5431	Hs.602757			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers				CDC	2007												
152628		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	2	2p23.3	POMC	25237225	25245063		Smith, A. K.  et al. 2006	16610949				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1			CDC GDP info	5443	Hs.1897			Pharmacogenomics    2006    7(3)    387-394	Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue		176830		CDC	2006												
152630		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	2	2p23.3	POMC	25237225	25245063		Shadrina, M.  et al. 2006	16876316				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1		Russia	CDC GDP info	5443	Hs.1897			Neurosci Lett    2006	Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology		176830		CDC	2006												
152631		alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	2	2p23.3	POMC	25237225	25245063		Xuei, X.  et al. 2007	17503481				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	European		CDC GDP info	5443	Hs.1897			Am J Med Genet B Neuropsychiatr Genet    2007	The opioid system in alcohol and drug dependence		176830		CDC	2007												
152632		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Burdon, K. P.  et al. 2005	16141008				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	European		CDC GDP info	5444	Hs.370995			J Med Genet    2005    42(9)    720-4	Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study		168820		CDC	2005	There is evidence for modest, but significant, association of multiple single nucleotide polymorphisms in lipid genes with measures of subclinical CVD.											
152633	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	7	7q21.3	PON1	94764923	94791780			16411107				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Graefes Arch Clin Exp Ophthalmol    2006        1-7	Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma		168820		CDC	2006	PON1 gene polymorphisms may influence the features of Japanese patients with OAG.											
152635		birth weight gestational age oxidative stress	METABOLIC	MET	Birth Weight	7	7q21.3	PON1	94764923	94791780		Min, J.  et al. 2006	16515855				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Reprod Toxicol    2006	Paraoxonase gene polymorphism and vitamin levels during pregnancy		168820		CDC	2006												
152636	Y	abdominal aortic aneurysm homocysteine hypertension	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	7	7q21.3	PON1	94764923	94791780			16521945				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Przegl Lek    2005    62(10)    1023-30	The different genotypes of MTHFR 1298A>C and PON1 -108C>T polymorphisms confer the increased risk of the abdominal aortic aneurysm in the smoking and nonsmoking persons		168820		CDC	2005			smoking (tobacco)									
152637	N	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q21.3	PON1	94764923	94791780		Pasdar, A.  et al. 2006	16551349				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Caucasian		CDC GDP info	5444	Hs.370995			BMC Med Genet    2006    7(1)    28	Paraoxonase gene polymorphisms and haplotype analysis in a stroke population		168820		CDC	2006	Our study did not identify a role for individual paraoxonase gene polymorphisms in the pathogenesis of ischaemic stroke.											
152638		glomerulosclerosis, focal	RENAL	REN	Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome	7	7q21.3	PON1	94764923	94791780		Biyikli, N. K.  et al. 2006	16565923				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Pediatr Nephrol    2006	Paraoxonase 1 192 and 55 polymorphisms in nephrotic children		168820		CDC	2006												
152639	N	DNA damage	OTHER	OTH	DNA Damage	7	7q21.3	PON1	94764923	94791780		Liu, Y. J.  et al. 2006	16614106				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		168820		CDC	2006			pesticide exposure									
152641		cardiac death	CARDIOVASCULAR	CARD	Heart Diseases|Death, Sudden, Cardiac|Myocardial Ischemia|Coronary Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Ameno, K.  et al. 2006	16683402				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Vojnosanit Pregl    2006    63(4)    357-61; discussion 362-3	Autopsy and postmortem examination case study on genetic risk factors for cardiac death		168820		CDC	2006	The polymorphism of Glu298Asp eNOS gene in dead cases may be useful for determining the cause of death in CHD cases in the Japanese population.											
152642		lupus erythematosus paraoxonase 1 activity	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis	7	7q21.3	PON1	94764923	94791780		Tripi, L. M.  et al. 2006	16729301				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Arthritis Rheum    2006    54(6)    1928-1939	Relationship of serum paraoxonase 1 activity and paraoxonase 1 genotype to risk of systemic lupus erythematosus		168820		CDC	2006	To our knowledge, this is the first study to assess the role of PON1 activity in SLE risk in a large biracial sample from the US.											
152643	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q21.3	PON1	94764923	94791780		Aydin, M.  et al. 2006	16766384				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			IUBMB Life    2006    58(3)    165-72	PON1 55/192 polymorphism, oxidative stress, type, prognosis and severity of stroke		168820		CDC	2006	PON1 genetic variations are associated with risk factors, severity, type and prognosis of stroke and oxidative stress.											
152644	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Chi, D.  et al. 2006	16767666				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    289-93	Relationship between paraoxonase 1 55 Met/Leu, paraoxonase 2 148 Ala/Gly genetic polymorphisms and coronary artery disease.		168820		CDC	2006	The CAD patient has the obviously low activities of plasma PON and T-SOD but on the contrary, get the plasma MDA concentration increased markedly. PON1 55 LM genotype and M allele, PON2 148 GG/AG genotype and G allele are the risk factors for coronary artery disease, and the activity of plasma PON is also markedly reduced in individuals with above genotypes.											
152645	Y	breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Stevens, V. L.  et al. 2006	16775186				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1226-8	Association of Polymorphisms in the Paraoxonase 1 Gene with Breast Cancer Incidence in the CPS-II Nutrition Cohort		168820		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
152646	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		He, X. M.  et al. 2006	16780669	Gln192Arg			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		China	CDC GDP info	5444	Hs.370995			Zhonghua Nei Ke Za Zhi    2006    45(4)    270-3	Paraoxonase 1 gene Gln192Arg polymorphism in and Alzheimer disease.		168820		CDC	2006	Our results indicate that Gln192Arg polymorphism in PON1 gene is associated with AD and PON1 R allele might be a protective factor for AD in Chinese Han population.											
152647	Y	hypertension	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hypertension|Disease Susceptibility	7	7q21.3	PON1	94764923	94791780		Marra, M.  et al. 2006	16794478	PON1192RR			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Hypertens    2006    24(7)    1293-1298	The PON1192RR genotype is associated with a higher prevalence of arterial hypertension		168820		CDC	2006	The finding that PON1192RR genotype is associated with$$$ a higher prevalence of arterial hypertension may contribute to improving the stratification of cardiovascular risk within a population aged 30-60 years. Determination of the PON1192 polymorphism may help to identify those individuals who are prone to developing cardiovascular diseases at an early stage, suggesting the need for close monitoring of cardiovascular risk factors before the onset of cardiovascular disease.											
152648	Y	longevity	AGING	AGE		7	7q21.3	PON1	94764923	94791780		Marchegiani, F.  et al. 2006	16799134				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Gerontol A Biol Sci Med Sci    2006    61(6)    541-6	Paraoxonase activity and genotype predispose to successful aging		168820		CDC	2006	we show that genetic variability at the PON1 locus is related to paraoxonase activity throughout life, and suggest that both parameters affect survival at extreme advanced age.											
152650	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	7	7q21.3	PON1	94764923	94791780		Slowik, A.  et al. 2006	16822965				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Polish	Poland	CDC GDP info	5444	Hs.370995			Neurology    2006	Paraoxonase gene polymorphisms and sporadic ALS		168820		CDC	2006	Frequent amino acid variants in the paraoxonase 1 and paraoxonase 2 genes are associated with sporadic ALS in a Polish population.											
152651		organophosphate toxicity	PHARMACOGENOMIC	PHARM		7	7q21.3	PON1	94764923	94791780		Kuang, X. Y.  et al. 2006	16824336				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(6)    333-6	Activity of esterases and effect of genetic polymorphism in workers exposed to organophosphorus pesticides.		168820		CDC	2006	The long-term exposure to OPs could inhibit the activities of CarbE, BchE, PonE and ACh E in different level. The genetic polymorphisms of PON192 and PON55 affect the activity of PonE, which is related to the detoxification of OPs and health impact.											
152652		PON1 activity	NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		Holland, N.  et al. 2006	16835048				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Environ Health Perspect    2006    114(7)    985-91	Paraoxonase polymorphisms, haplotypes, and enzyme activity in latino mothers and newborns		168820		CDC	2006												
152653	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		He, X. M.  et al. 2006	16863614	Gln192Arg			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		China	CDC GDP info	5444	Hs.370995			Chin Med J (Engl)    2006    119(14)    1204-9	Gln192Arg polymorphism in paraoxonase 1 gene is associated with Alzheimer disease in a Chinese Han ethnic population		168820		CDC	2006	Our results indicate that Gln192Arg polymorphism in the PON1 gene is associated with AD, and PON1 R allele might be a protective factor for AD in a Chinese Han ethnic population.											
152656	Y	intima media thickness	CARDIOVASCULAR	CARD	Atherosclerosis|Hyperlipoproteinemia Type II	7	7q21.3	PON1	94764923	94791780		Roest, M.  et al. 2006	16926679				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Eur J Cardiovasc Prev Rehabil    2006    13(3)    464-6	Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia		168820		CDC	2006	Our findings suggest that variation at the PON-1 locus contributes to early atherosclerosis in children with familial hypercholesterolaemia.											
152657	N	coronary endothelial vasomotor dysfunction	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Vasospasm	7	7q21.3	PON1	94764923	94791780		Yamane, T.  et al. 2006	16940704				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Hypertens Res    2006    29(6)    417-22	Impact of paraoxonase polymorphism (Q192R) on endothelial function in intact coronary circulation		168820		CDC	2006	as estimated by BK and ACh testing, our findings suggest that PON1 genotypes may not play a critical role in the modulation of endothelial vasomotor function in the intact coronary circulation.											
152658		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q21.3	PON1	94764923	94791780		Kim, Y. J.  et al. 2006	16949193				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Eur J Obstet Gynecol Reprod Biol    2006	Paraoxonase gene polymorphism, serum lipid, and oxidized low-density lipoprotein in preeclampsia		168820		CDC	2006	These findings support the importance of the atherogenic lipid profile and oxidized LDL that is enhanced in preeclampsia, and these findings may be significant contributors to endothelial dysfunction.											
152659	Y	diabetes, type 1	IMMUNE	IMM	Albuminuria|Diabetes Mellitus, Type 1|Diabetes Complications|Diabetic Angiopathies|Diabetic Retinopathy|Diabetic Nephropathies|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Hofer, S. E.  et al. 2006	16949520				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Caucasian		CDC GDP info	5444	Hs.370995			J Diabetes Complications    2006    20(5)    322-8	Association between PON 1 polymorphisms, PON activity and diabetes complications		168820		CDC	2006												
152660		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	7	7q21.3	PON1	94764923	94791780		De Roos, A. J.  et al. 2006	16985026				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	non-Hispanic		CDC GDP info	5444	Hs.370995			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		168820		CDC	2006												
152662	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3	PON1	94764923	94791780		Manresa, J. M.  et al. 2006	17001213				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Eur J Cardiovasc Prev Rehabil    2006    13(5)    738-744	Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease		168820		CDC	2006	Three of the genetic variants analysed, PPAR-alpha-L162V, LPL-HindIII, and TNF-alpha-G-308A, were associated with non-classical risk factors, specifically lipid profile, inflammation, and oxidative status.		cardiovascular risk factors									
152663	P		NORMALVARIATION	NV		7	7q21.3	PON1	94764923	94791780		Catano, H. C.  et al. 2006	17078098				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Japanese;Chinese;Brazilian;CaucEuropean;Peruvian		CDC GDP info	5444	Hs.370995			Environ Mol Mutagen    2006	Distribution of paraoxonase-1 gene polymorphisms and enzyme activity in a Peruvian population		168820		CDC	2006												
152664	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	7	7q21.3	PON1	94764923	94791780		Kovacs, T. J.  et al. 2006	17173245				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Nephrol    2006    19(6)    732-8	Paraoxonase gene polymorphism and serum activity in progressive IgA nephropathy		168820		CDC	2006	The results of this study suggest that in IgAN, lower PON1 activity may be associated with the deterioration of kidney function.											
152666	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	7	7q21.3	PON1	94764923	94791780		Morahan, J. M.  et al. 2006	17204329				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Neurotoxicology    2006	A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis		168820		CDC	2006	promoter haplotypes that decrease PON1 expression were associated with SALS, whereas haplotypes that increase expression were associated with controls.		herbicide exposure pesticide exposure									
152667		atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3	PON1	94764923	94791780		Chi, D. S.  et al. 2006	17299970				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(9)    808-13	Study of the association between paraoxonase1 55 Met/Leu, paraoxonase2 148 Ala/Gly and manganese superoxide dismutase (MnSOD) 9 Ala/Val genetic polymorphisms and coronary heart disease		168820		CDC	2006	The antioxidative ability decreased, while lipid superoxide increased in CHD patients.											
152669	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3	PON1	94764923	94791780		Saeed, M.  et al. 2007	17309646				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Clin Genet    2007    71(3)    238-44	Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population		168820		CDC	2007			smoking (tobacco)									
152670	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Yamaguchi, S.  et al. 2007	17334638				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Int J Mol Med    2007    19(4)    631-7	Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus		168820		CDC	2007												
152671		C-reactive protein cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	METABOLIC	MET		7	7q21.3	PON1	94764923	94791780		Phuntuwate, W.  et al. 2007	17412348				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Atherosclerosis    2007	Effect of fenofibrate therapy on paraoxonase1 status in patients with low HDL-C levels		168820		CDC	2007	Lipid-modifying therapy with micro-coated fenofibrate in patients with low high-density lipoprotein levels not only reduced atherogenic lipids (total cholesterol, triglycerides, oxidized low-density lipoprotein and apolipoprotein-B) and increased atheroprotective lipids but also increased paraoxonase1 concentration and activity. Increasing paraoxonase1 level											
152672	Y	hypercholesterolemia	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	7	7q21.3	PON1	94764923	94791780		Christidis, D. S.  et al. 2007	17416287	PON1 L55M			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Arch Med Res    2007    38(4)    403-10	Effect of Paraoxonase 1 Polymorphisms on the Response of Lipids and Lipoprotein-associated Enzymes to Treatment with Fluvastatin		168820		CDC	2007	Q192R and L55M PON1 polymorphisms did not affect the response of lipids, PON1 and total serum Lp-PLA(2) to treatment with a statin. However, L55M PON1 polymorphism significantly modulated the response of HDL-Lp-PLA(2). It should be noted that this is an association study and therefore provides no proof but only indication that PON1 may also exert Lp-PLA(2) activity in HDL.		fluvastatin									
152673	Y	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	7	7q21.3	PON1	94764923	94791780		Gallicchio, L.  et al. 2007	17428620				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Caucasian		CDC GDP info	5444	Hs.370995			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		168820		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
152674	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Karban, A.  et al. 2007	17436100	PON 1 192R			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Ashkenazi;Jewish		CDC GDP info	5444	Hs.370995			Dig Dis Sci    2007	Paraoxonase (PON)1 192R Allele Carriage is Associated with Reduced Risk of Inflammatory Bowel Disease		168820		CDC	2007												
152676	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Morray, B.  et al. 2007	17437735				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Am J Cardiol    2007    99(8)    1100-5	Polymorphisms in the paraoxonase and endothelial nitric oxide synthase genes and the risk of early-onset myocardial infarction		168820		CDC	2007	our findings suggest that high-risk genotypes of the PON1 Q192R and eNOS E298D polymorphisms are independently associated with a significantly earlier occurrence of coronary events.											
152677		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Dick, F.  et al. 2007	17449559				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	European		CDC GDP info	5444	Hs.370995			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		168820		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
152678		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Sidoti, A.  et al. 2007	17463067				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Mult Scler    2007    13(4)    446-53	Glyoxalase I A111E, paraoxonase 1 Q192R and L55M polymorphisms		168820		CDC	2007												
152679	Y	osteonecrosis	METABOLIC	MET	Femur Head Necrosis|Brain Diseases	7	7q21.3	PON1	94764923	94791780		Hadjigeorgiou, G. M.  et al. 2007	17469180				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Orthop Res    2007	Paraoxonase 1 gene polymorphisms in patients with osteonecrosis of the femoral head with and without cerebral white matter lesions		168820		CDC	2007	individuals with PON1 192QQ genotype may have increased risk for ONFH and WMLeOn.											
152680		lipid peroxidation	METABOLIC	MET	Atherosclerosis	7	7q21.3	PON1	94764923	94791780		Cherki, M.  et al. 2007	17532162				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Exp Gerontol    2007	Effect of PON1 polymorphism on HDL antioxidant potential is blunted with aging		168820		CDC	2007												
152681		organophosphate toxicity	PHARMACOGENOMIC	PHARM		7	7q21.3	PON1	94764923	94791780		Sirivarasai, J.  et al. 2007	17532308				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Chem Biol Interact    2007	Paraoxonase (PON1) polymorphism and activity as the determinants of sensitivity to organophosphates in human subjects		168820		CDC	2007	PON1 gene exhibited a wide variation in enzyme activities both within and between genotypes which implied insights of a potentially difference in sensitivity to OP toxicity.											
152682		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Povey, A. C.  et al. 2007	17536768				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Biomarkers    2007    12(2)    188-202	GST CYP and PON1 polymorphisms in farmers attributing ill health to organophosphate-containing sheep dip		168820		CDC	2007			diazinon									
152683	P		NORMALVARIATION	NV	Cardiovascular Diseases|Diabetes Mellitus, Type 2	7	7q21.3	PON1	94764923	94791780		Poh, R.  et al. 2007	17539292				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Chinese;Indian;Asian		CDC GDP info	5444	Hs.370995			Southeast Asian J Trop Med Public Health    2007    38(2)    392-7	Ethnic variations in paraoxonase1 polymorphism in the Malaysian population		168820		CDC	2007												
152685	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Balcerzyk, A.  et al. 2007	17560461				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Arch Med Res    2007    38(5)    545-50	Synergistic Effects between Q192R Polymorphism of Paraoxonase 1 Gene and Some Conventional Risk Factors in Premature Coronary Artery Disease		168820		CDC	2007	The present study revealed an association between carrier state of Q allele of PON1 gene and coronary artery disease as well as synergistic effects between genotype and some conventional risk factors, mainly smoking and elevated level of total cholesterol.		cholesterol smoking (tobacco)									
152686		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Volcik, K.  et al. 2007	17568951				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Stud Alcohol Drugs    2007    68(4)    485-92	Interaction effects of high-density lipoprotein metabolism gene variation and alcohol consumption on coronary heart disease risk		168820		CDC	2007	Results from the current study suggest that interaction effects between alcohol consumption and HDL cholesterol metabolism gene variation influence the risk of incident CHD in black men.		alcohol									
152687		arylesterase activity cholesterol cholesterol, HDL cholesterol, LDL	METABOLIC	MET	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Nus, M.  et al. 2007	17585031				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Caucasian		CDC GDP info	5444	Hs.370995			J Nutr    2007    137(7)    1783-1788	Arylesterase Activity and Antioxidant Status Depend on PON1-Q192R and PON1-L55M Polymorphisms in Subjects with Increased Risk of Cardiovascular Disease Consuming Walnut-Enriched Meat		168820		CDC	2007			walnut-enriched meat									
152688	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia	7	7q21.3	PON1	94764923	94791780		Schiavon, R.  et al. 2007	17587252				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Acta Neurol Scand    2007    116(1)    26-30	PON1 activity and genotype in patients with arterial ischemic stroke and in healthy individuals		168820		CDC	2007	We postulate that lower than expected PON1 enzyme activity within specific genotypes might explain the reported association between R and L alleles and the risk of developing AIS.											
152689	Y	atherosclerosis, coronary cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Rios, D. L.  et al. 2007	17617030	PON1  55LeuLeu			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Brazilian;Caucasian		CDC GDP info	5444	Hs.370995	192GlnGln PON1 homozygotes show higher triglyceride and lower HDL-cholesterol levels in male Caucasian-Brazilians		Clin Chem Lab Med    2007    45(7)    874-8	Paraoxonase 1 gene polymorphisms in angiographically assessed coronary artery disease		168820		CDC	2007	This report shows that the 55LeuLeu PON1 genotype increases CAD risk among female Caucasian-Brazilians, irrespective of other CAD risk factors. In addition, 192GlnGln PON1 homozygotes show higher triglyceride and lower HDL-cholesterol levels in male Caucasian-Brazilians. No associations were detected among African-Brazilians. Clin Chem Lab Med 2007;45:874-8.											
152691	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	7	7q21.3	PON2	94872109	94902320			16411107				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Graefes Arch Clin Exp Ophthalmol    2006        1-7	Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma		602447		CDC	2006	PON1 gene polymorphisms may influence the features of Japanese patients with OAG.											
152692	N	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q21.3	PON2	94872109	94902320		Pasdar, A.  et al. 2006	16551349				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Caucasian		CDC GDP info	5445	Hs.530077			BMC Med Genet    2006    7(1)    28	Paraoxonase gene polymorphisms and haplotype analysis in a stroke population		602447		CDC	2006	Our study did not identify a role for individual paraoxonase gene polymorphisms in the pathogenesis of ischaemic stroke.											
152693	N	DNA damage	OTHER	OTH	DNA Damage	7	7q21.3	PON2	94872109	94902320		Liu, Y. J.  et al. 2006	16614106				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		602447		CDC	2006			pesticide exposure									
152694	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3	PON2	94872109	94902320		Chi, D.  et al. 2006	16767666				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    289-93	Relationship between paraoxonase 1 55 Met/Leu, paraoxonase 2 148 Ala/Gly genetic polymorphisms and coronary artery disease.		602447		CDC	2006	The CAD patient has the obviously low activities of plasma PON and T-SOD but on the contrary, get the plasma MDA concentration increased markedly. PON1 55 LM genotype and M allele, PON2 148 GG/AG genotype and G allele are the risk factors for coronary artery disease, and the activity of plasma PON is also markedly reduced in individuals with above genotypes.											
152696	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Saeed, M.  et al. 2006	16822964				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Caucasian		CDC GDP info	5445	Hs.530077			Neurology    2006    67(5)    771-6	Paraoxonase cluster polymorphisms are associated with sporadic ALS		602447		CDC	2006	This study demonstrates evidence of significant association of variants in the Paraoxonase gene cluster with sporadic ALS and is compatible with the hypothesis that environmental toxicity in a susceptible host may precipitate ALS.											
152697	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	7	7q21.3	PON2	94872109	94902320		Slowik, A.  et al. 2006	16822965				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Polish	Poland	CDC GDP info	5445	Hs.530077			Neurology    2006	Paraoxonase gene polymorphisms and sporadic ALS		602447		CDC	2006	Frequent amino acid variants in the paraoxonase 1 and paraoxonase 2 genes are associated with sporadic ALS in a Polish population.											
152699	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 2|Disease Progression	7	7q21.3	PON2	94872109	94902320		Calle, R.  et al. 2006	17096118				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Diabetologia    2006    49(12)    2892-2899	Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes		602447		CDC	2006	the PON2 variants typed in this study have, at best, a small effect on the risk of renal dysfunction in type 2 diabetes.											
152700	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q21.3	PON2	94872109	94902320		Kokubo, Y.  et al. 2006	17137217				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		602447		CDC	2006												
152702	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3	PON2	94872109	94902320		Saeed, M.  et al. 2007	17309646				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Clin Genet    2007    71(3)    238-44	Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population		602447		CDC	2007			smoking (tobacco)									
152703	Y	stroke	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Atherosclerosis	7	7q21.3	PON2	94872109	94902320		Slowik, A.  et al. 2007	17406108				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Polish		CDC GDP info	5445	Hs.530077			Cerebrovasc Dis    2007    23(5-6)    395-400	Paraoxonase 2 Gene C311S Polymorphism Is Associated with a Risk of Large Vessel Disease Stroke in a Polish Population		602447		CDC	2007	The genotype with the C allele of the PON2 gene is a risk factor for LVD stroke in a Polish population.											
152704	N	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	7	7q21.3	PON2	94872109	94902320		Gallicchio, L.  et al. 2007	17428620				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Caucasian		CDC GDP info	5445	Hs.530077			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		602447		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
152705	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	7	7q21.3	PON2	94872109	94902320		Karban, A.  et al. 2007	17436100				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	Ashkenazi;Jewish		CDC GDP info	5445	Hs.530077			Dig Dis Sci    2007	Paraoxonase (PON)1 192R Allele Carriage is Associated with Reduced Risk of Inflammatory Bowel Disease		602447		CDC	2007												
152707	N	stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident	7	7q21.3	PON3	94827119	94863623		Pasdar, A.  et al. 2006	16551349				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Caucasian		CDC GDP info	5446	Hs.440967			BMC Med Genet    2006    7(1)    28	Paraoxonase gene polymorphisms and haplotype analysis in a stroke population		602720		CDC	2006	Our study did not identify a role for individual paraoxonase gene polymorphisms in the pathogenesis of ischaemic stroke.											
152708	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	7	7q21.3	PON3	94827119	94863623		Saeed, M.  et al. 2006	16822964				Paraoxonase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000940.2	Caucasian		CDC GDP info	5446	Hs.440967			Neurology    2006    67(5)    771-6	Paraoxonase cluster polymorphisms are associated with sporadic ALS		602720		CDC	2006	This study demonstrates evidence of significant association of variants in the Paraoxonase gene cluster with sporadic ALS and is compatible with the hypothesis that environmental toxicity in a susceptible host may precipitate ALS.											
152709	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q11.2	POR	75382355	75454109		Haiman, C. A.  et al. 2007	17440066				P450 (cytochrome) oxidoreductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD014011			CDC GDP info	5447	Hs.354056			Cancer Res    2007    67(8)    3565-8	A variant in the cytochrome p450 oxidoreductase gene is associated with breast cancer risk in african americans		124015		CDC	2007												
152710		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13		POSTN	37034778	37070874		Forsti, A.  et al. 2006	16807673				Periostin, osteoblast specific factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006475.1			CDC GDP info	10631	Hs.136348			Breast Cancer Res Treat    2006	Polymorphisms in the KDR and POSTN Genes				CDC	2006												
152711	Y	mental retardation	DEVELOPMENTAL	DEV	Mental Retardation	3	3p11	POU1F1	87391472	87408427		Sun, Y.  et al. 2006	16505001				POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000306.1			CDC GDP info	5449	Hs.591654			Hum Mol Genet    2006	Positive Association Between POU1F1 and Mental Retardation in Young Females in the Chinese Han Population		173110		CDC	2006												
152712	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	11	11q23.1	POU2AF1	110728189	110755627		The Games Collaborative, = Group  et al. 2006	16934875				POU class 2 associating factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006235	European	Europe	CDC GDP info	5450	Hs.654525			J Neuroimmunol    2006	Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans		601206		CDC	2006												
152713		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	6	6q16	POU3F2	99389300	99393387		Costa, M. D.  et al. 2006	16858508				POU class 3 homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005604	Portuguese		CDC GDP info	5454	Hs.182505			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		600494		CDC	2006												
152714		left ventricular growth	CARDIOVASCULAR	CARD		22	22q12-q13.1	PPARA	44925162	45018317			16416313				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			J Mol Med    2006        1-6	Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth		170998		CDC	2006												
152716		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Garenc, C.  et al. 2006	16630553				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2		Quebec	CDC GDP info	5465	Hs.103110			Biochem Biophys Res Commun    2006	Gene polymorphisms in the Quebec population		170998		CDC	2006												
152717	P		NORMALVARIATION	NV		22	22q12-q13.1	PPARA	44925162	45018317		Kamei, Y.  et al. 2006	16637234				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Japanese;Caucasian		CDC GDP info	5465	Hs.103110			J Nutr Sci Vitaminol (Tokyo)    2006    52(1)    75-8	Gly395Arg polymorphism of PPARalpha gene was not detected in Japanese population of 729 individuals		170998		CDC	2006												
152718	N	body mass	METABOLIC	MET	Dyslipidemias|Obesity|Body Weight	22	22q12-q13.1	PPARA	44925162	45018317		Aberle, J.  et al. 2006	16652134				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Int J Obes (Lond)    2006	Association of peroxisome proliferator-activated receptor delta +294T/C with body mass index and interaction with peroxisome proliferator-activated receptor alpha L162V		170998		CDC	2006	Our data provide further evidence for an involvement of PPARdelta in the regulation of BMI.											
152719	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Klos, K. L.  et al. 2006	16763159				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		170998		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
152720	N	edema	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Edema	22	22q12-q13.1	PPARA	44925162	45018317		Hansen, L.  et al. 2006	16822823	Pro12Ala of the PPARG gene			peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			J Clin Endocrinol Metab    2006	The Pro12Ala Variant of the PPARG Gene is a Risk Factor for PPAR{gamma}/{alpha} Agonist Induced Edema in Type 2 Diabetic Patients		170998		CDC	2006	A population-attributable risk of approximately 50% for the Pro12Pro genotype indicates that testing for the Pro12Ala of the PPARG gene in addition to the already identified clinical risk factors may become a useful tool to further reduce the risk of PPARgamma agonist-induced fluid retention and edema in patients with type 2 diabetes.		ragaglitazar									
152721	P	cholesterol gamma glutamyltranspeptidase triglycerides	METABOLIC	MET		22	22q12-q13.1	PPARA	44925162	45018317		Naito, H.  et al. 2006	16847426				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Japanese;European		CDC GDP info	5465	Hs.103110			Pharmacogenet Genomics    2006    16(8)    569-577	Association of V227A PPARalpha polymorphism with altered serum biochemistry and alcohol drinking in Japanese men		170998		CDC	2006	PPARalpha-V227A is a major polymorphism in the Japanese population, and its activity may be greater compared to wild-type, but decreased by alcohol drinking.		alcohol									
152722	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	22	22q12-q13.1	PPARA	44925162	45018317		Manresa, J. M.  et al. 2006	17001213	PPARA -L162V			peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Eur J Cardiovasc Prev Rehabil    2006    13(5)    738-744	Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease		170998		CDC	2006	Three of the genetic variants analysed, PPAR-alpha-L162V, LPL-HindIII, and TNF-alpha-G-308A, were associated with non-classical risk factors, specifically lipid profile, inflammation, and oxidative status.		cardiovascular risk factors									
152723	N	diabetes, type 2 dyslipidemia obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Dyslipidemias|Obesity	22	22q12-q13.1	PPARA	44925162	45018317		Sparso, T.  et al. 2006	17129741				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Mol Genet Metab    2006	Relationships between the functional PPARalpha Leu162Val polymorphism and obesity, type 2 diabetes, dyslipidaemia, and related quantitative traits in studies of 5799 middle-aged white people		170998		CDC	2006	in a relative large-scale study of middle-aged whites we found no evidence of association between the PPARalpha Leu162Val polymorphism and obesity or type 2 diabetes. If replicated, the Val162Val variant may, however, confer an increase in fasting levels of serum lipids.											
152724	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	22	22q12-q13.1	PPARA	44925162	45018317		Nohara, A.  et al. 2007	17272748				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia		170998		CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
152725	Y	muscle testing	NORMALVARIATION	NV		22	22q12-q13.1	PPARA	44925162	45018317			17300045				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Ross Fiziol Zh Im I M Sechenova    2006    92(7)    883-8	The association of gene polymorphisms with the muscle fiber type composition		170998		CDC	2006												
152726	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	22	22q12-q13.1	PPARA	44925162	45018317		Balcerzyk, A.  et al. 2007	17608096				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2			CDC GDP info	5465	Hs.103110			Acta Cardiol    2007    62(3)    233-8	Synergistic effect between polymorphisms of PPARA and ABCA1 genes on the premature coronary artery disease		170998		CDC	2007	The present study shows that R219K polymorphism of ABCA1 gene and G > C polymorphism in intron 7 of PPARA gene act cumulatively and synergistically in determining the risk of premature CAD.											
152727	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12-q21.1	PPARBP	34814068	34861030		Benusiglio, P. R.  et al. 2006	17117180				PPAR binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004774.2			CDC GDP info	5469	Hs.462956			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		604311		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
152728	Y	glucose insulin	METABOLIC	MET		6	6p21.2-p21.1	PPARD	35418312	35503933		Vanttinen, M.  et al. 2005	16306381				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Diabetes    2005    54(12)    3587-91	Single nucleotide polymorphisms in the peroxisome proliferator-activated receptor delta gene are associated with skeletal muscle glucose uptake		600409		CDC	2005												
152730	Y	body mass	METABOLIC	MET	Dyslipidemias|Obesity|Body Weight	6	6p21.2-p21.1	PPARD	35418312	35503933		Aberle, J.  et al. 2006	16652134				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Int J Obes (Lond)    2006	Association of peroxisome proliferator-activated receptor delta +294T/C with body mass index and interaction with peroxisome proliferator-activated receptor alpha L162V		600409		CDC	2006	Our data provide further evidence for an involvement of PPARdelta in the regulation of BMI.											
152731		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression	6	6p21.2-p21.1	PPARD	35418312	35503933		Andrulionyte, L.  et al. 2006	16804087				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3	Finnish		CDC GDP info	5467	Hs.485196			Diabetes    2006    55(7)    2148-52	Single Nucleotide Polymorphisms of PPARD in Combination With the Gly482Ser Substitution of PGC-1A and the Pro12Ala Substitution of PPARG2 Predict the Conversion From Impaired Glucose Tolerance to Type 2 Diabetes		600409		CDC	2006												
152732	Y	atherosclerosis, coronary body mass cholesterol, HDL cholesterol, LDL cholesterol, VLDL	CARDIOVASCULAR	CARD		6	6p21.2-p21.1	PPARD	35418312	35503933		Aberle, J.  et al. 2006	16906219	PPARD +T294C			Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Int J Med Sci    2006    3(3)    108-11	Association of the T+294C polymorphism in PPAR delta with low HDL cholesterol and coronary heart disease risk in women		600409		CDC	2006	Our data show for the first time that the PPARdelta +T294C polymorphism is associated with lipid levels and coronary heart disease in women. However, the molecular mechanism of action remains to be elucidated.											
152733	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	6	6p21.2-p21.1	PPARD	35418312	35503933		Robitaille, J.  et al. 2006	16953259				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3		France	CDC GDP info	5467	Hs.485196			Int J Obes (Lond)    2006	Features of the metabolic syndrome are modulated by an interaction between the peroxisome proliferator-activated receptor-delta -87T>C polymorphism and dietary fat in French-Canadians		600409		CDC	2006	These data suggest that the PPAR-delta -87T>C polymorphism may be associated with a lower risk to exhibit the MS and this association is influenced by dietary fat intake.The metabolic syndrome (MS) is influenced by genetic and environmental factors. Peroxisome proliferator-activated receptor delta (PPAR-delta), a transcription factor involved in lipid metabo											
152734		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.2-p21.1	PPARD	35418312	35503933		Holzapfel, J.  et al. 2006	16979821				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Neurosci Lett    2006	PPARD haplotype influences cholesterol metabolism but is no risk factor of Alzheimer's disease		600409		CDC	2006												
152735	Y	body mass cholesterol, LDL glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Body Weight	6	6p21.2-p21.1	PPARD	35418312	35503933		Hu, C.  et al. 2006	17116180				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3	Chinese;Korean		CDC GDP info	5467	Hs.485196			Diabet Med    2006    23(12)    1307-12	Peroxisome proliferator-activated receptor (PPAR) delta genetic polymorphism and its association with insulin resistance index and fasting plasma glucose concentrations in Chinese subjects		600409		CDC	2006	The PPARD-87T/C polymorphism is associated with higher fasting plasma glucose concentrations in both NGT and diabetic subjects, largely due to impaired insulin sensitivity.											
152736	Y	cardiorespiratory fitness cholesterol, HDL	CARDIOVASCULAR	CARD		6	6p21.2-p21.1	PPARD	35418312	35503933		Hautala, A. J.  et al. 2007	17259439				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3		United States	CDC GDP info	5467	Hs.485196			Am J Physiol Heart Circ Physiol    2007	Peroxisome Proliferator-Activated Receptor Delta Polymorphisms Are Associated With Physical Performance and Plasma Lipids		600409		CDC	2007			physical activity									
152737	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	6	6p21.2-p21.1	PPARD	35418312	35503933		Nohara, A.  et al. 2007	17272748				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia		600409		CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
152738	Y	aerobic fitness insulin	NORMALVARIATION	NV	Insulin Resistance	6	6p21.2-p21.1	PPARD	35418312	35503933		Stefan, N.  et al. 2007	17327385	PPARD rs2267668 A/G SNP			Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			J Clin Endocrinol Metab    2007	Genetic Variations in PPARD and PPARGC1A determine Mitochondrial Function and Change in Aerobic Physical Fitness and Insulin Sensitivity during Lifestyle Intervention	rs2267668	600409		CDC	2007	These data provide evidence that the rs2267668 A/G SNP in PPARD and the Gly482Ser SNP in PPARGC1A have both independent and additive effects on the effectiveness of aerobic exercise training to increase aerobic physical fitness and insulin sensitivity.			PPARD	PPARD  rs2267668 A/G SNP	PPARGC1A	PPARGC1A Gly482Ser SNP					
152739			CANCER	CAN	Neoplasms|Inflammation	6	6p21.2-p21.1	PPARD	35418312	35503933		Huang, H. Y.  et al. 2007	17355643				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3	African American;Caucasian		CDC GDP info	5467	Hs.485196			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		600409		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
152740	N	diabetes, type 2 insulin lipids metabolic syndrome obesity	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.2-p21.1	PPARD	35418312	35503933		Grarup, N.  et al. 2007	17431579				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Diabetologia    2007	Variation in the peroxisome proliferator-activated receptor delta gene in relation to common metabolic traits in 7,495 middle-aged white people		600409		CDC	2007	common variation in PPARD does not significantly affect the risk of metabolic disease in the population studied.											
152741		blood pressure, arterial body mass hypertension, ocular insulin metabolic syndrome	CARDIOVASCULAR	CARD	Hypertension|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease|Body Weight	3	3p25	PPARG	12304348	12450855			16216916				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Caucasian		CDC GDP info	5468	Hs.162646			J Mol Endocrinol    2005    35(2)    373-80	Peroxisome proliferator-activated receptor gamma and its coactivator-1 alpha may be associated with features of the metabolic syndrome in adolescents		601487		CDC	2005	the Gly482 Ser variant of the PGC-1alpha gene may be an independent genetic risk factor for young-onset hypertension.											
152742	N	colorectal cancer	PHARMACOGENOMIC	PHARM	Adenoma|Colorectal Neoplasms	3	3p25	PPARG	12304348	12450855		Siezen, C. L.  et al. 2006	16344721				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Pharmacogenet Genomics    2006    16(1)    43-50	Protective effect of nonsteroidal anti-inflammatory drugs on colorectal adenomas is modified by a polymorphism in peroxisome proliferator-activated receptor delta		601487		CDC	2006	This study confirms the protective effect of NSAIDs and suggests a modulating effect of a SNP in the promoter of PPARdelta.		nonsteroidal anti-inflammatory (NSAID)									
152743		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	3	3p25	PPARG	12304348	12450855			16407418				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		601487		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
152745		adiponectin body mass obesity	METABOLIC	MET	Insulin Resistance|Obesity	3	3p25	PPARG	12304348	12450855			16421345				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Obes Res    2005    13(12)    2113-21	ACDC/Adiponectin and PPAR-{gamma} Gene Polymorphisms		601487		CDC	2005												
152746		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	3	3p25	PPARG	12304348	12450855		Slattery, M. L.  et al. 2006	16489531				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Minnesota|California|Utah	CDC GDP info	5468	Hs.162646			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		601487		CDC	2006			ibuprofen-type drugs									
152747	N	hyperandrogenism	METABOLIC	MET	Obesity|Hyperandrogenism	3	3p25	PPARG	12304348	12450855			16541712				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Przegl Lek    2005    62(9)    833-7	Leptin level and the PPARgamma2 Pro12Ala and Pro115Gln polymorphisms in women with functional hyperandrogenism. Preliminary report		601487		CDC	2005	Leptin level in non-obese FOH women is significantly higher than in lean healthy controls. This difference was not observed in obese women. However the Pro12Ala polymorphism is quite common; it does not seem to be directly related to the obesity connected with hyperandrogenism. Higher frequency of Ala allele In FOH women compared to healthy controls (36% vs 28%) may at least partially explain the beneficial effect of tiazolidinediones in the treatment of hyperandrogenism.											
152749	Y	hyperglycemia insulin	METABOLIC	MET	Diabetes Mellitus|Hyperglycemia|Hyperinsulinism|Insulin Resistance	3	3p25	PPARG	12304348	12450855		Jaziri, R.  et al. 2006	16567542	PPARG Pro12Ala			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Caucasian;French		CDC GDP info	5468	Hs.162646			Diabetes    2006    55(4)    1157-62	The PPARG Pro12Ala Polymorphism Is Associated With a Decreased Risk of Developing Hyperglycemia Over 6 Years and Combines With the Effect of the APM1 G-11391A Single Nucleotide Polymorphism		601487		CDC	2006												
152750		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Wang, Y.  et al. 2006	16600233				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		China	CDC GDP info	5468	Hs.162646			Fertil Steril    2006	Polymorphisms of the peroxisome proliferator-activated receptor-gamma and its coactivator-1alpha genes in Chinese women with polycystic ovary syndrome		601487		CDC	2006												
152752		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Garenc, C.  et al. 2006	16630553				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Quebec	CDC GDP info	5468	Hs.162646			Biochem Biophys Res Commun    2006	Gene polymorphisms in the Quebec population		601487		CDC	2006												
152753	Y	body mass energy metabolism	METABOLIC	MET	Obesity	3	3p25	PPARG	12304348	12450855		Rosado, E. L.  et al. 2006	16771114	Pro12Ala/Gln27Glu			Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Nutr Hosp    2006    21(3)    317-31	Effect of diet and PPARgamma2 and beta2-adrenergic receptor genes on energy metabolism and body composition in obese women		601487		CDC	2006	Polymorphism in PPARgamma2 gene resulted in increased fat oxidation, regardless of genotype of beta2-adrenergic receptor gene. It is recommended control of the total intake of fats and SFA in Pro12Pro/Gln27Gln and Pro12Pro/Gln27Glu, and complex CHO and MUFA in Pro12Pro/Glu27Glu. In Pro12Ala/Gln27Glu, AGPI intake can result in greater body weight loss.		diet									
152754		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	3	3p25	PPARG	12304348	12450855		Gunter, M. J.  et al. 2006	16775170				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		601487		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
152755		blood pressure, arterial endothelium destruction	CARDIOVASCULAR	CARD	Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Gacka, M.  et al. 2005	16789503				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Pol Arch Med Wewn    2005    114(5)    1055-65	Influence of polymorphism pro12Ala of PPARgamma gen on endothelium destruction in patients with diabetes mellitus t. 2		601487		CDC	2005	The polymorphism Pro12Ala is not connected with the endothelium destruction.											
152757		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression	3	3p25	PPARG	12304348	12450855		Andrulionyte, L.  et al. 2006	16804087				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Finnish		CDC GDP info	5468	Hs.162646			Diabetes    2006    55(7)    2148-52	Single Nucleotide Polymorphisms of PPARD in Combination With the Gly482Ser Substitution of PGC-1A and the Pro12Ala Substitution of PPARG2 Predict the Conversion From Impaired Glucose Tolerance to Type 2 Diabetes		601487		CDC	2006												
152758	Y	edema	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease|Edema	3	3p25	PPARG	12304348	12450855		Hansen, L.  et al. 2006	16822823				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			J Clin Endocrinol Metab    2006	The Pro12Ala Variant of the PPARG Gene is a Risk Factor for PPAR{gamma}/{alpha} Agonist Induced Edema in Type 2 Diabetic Patients		601487		CDC	2006	A population-attributable risk of approximately 50% for the Pro12Pro genotype indicates that testing for the Pro12Ala of the PPARG gene in addition to the already identified clinical risk factors may become a useful tool to further reduce the risk of PPARgamma agonist-induced fluid retention and edema in patients with type 2 diabetes.		ragaglitazar									
152759		blood pressure, arterial cholesterol cholesterol, HDL cholesterol, LDL dyslipidemia retinopathy, diabetic triglycerides	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Dyslipidemias	3	3p25	PPARG	12304348	12450855		Zietz, B.  et al. 2006	16896567				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	German		CDC GDP info	5468	Hs.162646			Med Klin (Munich)    2006    101(8)    605-16	Candidate genes and polymorphism analysis in type 2 diabetes mellitus.		601487		CDC	2006	An accumulation of certain genotypes of candidate genes for diabetes mellitus type 2 is associated with the severity of dyslipidemia and microvascular late complications, e.											
152760		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Inflammation	3	3p25	PPARG	12304348	12450855		Theodoropoulos, G.  et al. 2006	16937502				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Greek		CDC GDP info	5468	Hs.162646			World J Gastroenterol    2006    12(31)    5037-43	Relation between common polymorphisms in genes related to inflammatory response and colorectal cancer		601487		CDC	2006	The association between common SNPs in immunologic response-related genes and CRC is reported in the present study. Apart from shedding light on the mechanisms of malignancy initiation and progression, SNPs may improve appropriate screening for sub-populations at risk.											
152761		breast cancer	CANCER	CAN	Breast Neoplasms	3	3p25	PPARG	12304348	12450855		Vogel, U.  et al. 2006	16959787				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Carcinogenesis    2006	Peroxisome profilerator-activated receptor{gamma}2 Pro12Ala, interaction with alcohol intake and NSAID use, in relation to risk of breast cancer in a prospective study of Danes		601487		CDC	2006			alcohol nonsteroidal anti-inflammatory (NSAID)									
152763		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Santos, J. L.  et al. 2006	17080261				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	European		CDC GDP info	5468	Hs.162646			Eur J Nutr    2006	Genotype-by-nutrient interactions assessed in European obese women		601487		CDC	2006	Although the use of obese-only samples is theoretically a useful approach to detect interactions, few genotype-by-nutrient interactions have been suggested in obese European women after the analysis of candidate polymorphisms and the selected nutrient variables. The most remarkable multiplicative interaction found in this study refers to the combination of the hepatic lipase gene polymorphism -514 C > T and fibre intake.		diet									
152764	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3p25	PPARG	12304348	12450855		Willer, C. J.  et al. 2007	17192490				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		601487		CDC	2007												
152765	Y	birth weight preterm delivery	REPRODUCTION	REP	Premature Birth|Metabolic Diseases|Genetic Predisposition to Disease|Birth Weight	3	3p25	PPARG	12304348	12450855		Meirhaeghe, A.  et al. 2007	17259396				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Diabetes    2007    56(2)    494-8	A Possible Role for the PPARG Pro12Ala Polymorphism in Preterm Birth		601487		CDC	2007	the PPARG Pro12Ala polymorphism might represent a genetic susceptibility factor for preterm birth and constitute a link between preterm birth and metabolic diseases later in life.											
152766	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	3	3p25	PPARG	12304348	12450855		Nohara, A.  et al. 2007	17272748				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia		601487		CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
152768	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	3	3p25	PPARG	12304348	12450855		Shaat, N.  et al. 2007	17342473				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Scandinavian		CDC GDP info	5468	Hs.162646			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		601487		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
152769		breast cancer	CANCER	CAN	Breast Neoplasms|Insulin Resistance|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Wang, Y.  et al. 2007	17348446				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Anticancer Res    2007    27(1B)    589-93	Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer		601487		CDC	2007	Our results suggest that polymorphisms in these energy regulation candidate genes may be associated with risk of breast cancer, but replication in larger studies is needed.											
152770			CANCER	CAN	Neoplasms|Inflammation	3	3p25	PPARG	12304348	12450855		Huang, H. Y.  et al. 2007	17355643				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	African American;Caucasian		CDC GDP info	5468	Hs.162646			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		601487		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
152771	N	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	3	3p25	PPARG	12304348	12450855		Gallicchio, L.  et al. 2007	17428620				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Caucasian		CDC GDP info	5468	Hs.162646			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		601487		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
152773		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Scott, L. J. et al.  et al. 2007	17463248				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Finnish		CDC GDP info	5468	Hs.162646			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		601487		CDC	2007												
152774		weight loss	METABOLIC	MET		3	3p25	PPARG	12304348	12450855		Adamo, K. B.  et al. 2007	17495181				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Obesity (Silver Spring)    2007    15(5)    1068-75	Peroxisome Proliferator-activated Receptor {gamma} 2 and Acyl-CoA Synthetase 5 Polymorphisms Influence Diet Response		601487		CDC	2007			diet									
152775		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Inflammation	3	3p25	PPARG	12304348	12450855		Vogel, U.  et al. 2007	17544013				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Mutat Res    2007	Prospective study of interaction between alcohol, NSAID use and polymorphisms in genes involved in the inflammatory response in relation to risk of colorectal cancer		601487		CDC	2007			alcohol nonsteroidal anti-inflammatory (NSAID)									
152777		breast cancer	CANCER	CAN		3	3p25	PPARG	12304348	12450855		Justenhoven, C.  et al. 2007	17588204				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	German		CDC GDP info	5468	Hs.162646			Breast Cancer Res Treat    2007	Breast cancer		601487		CDC	2007			body mass									
152778	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Sale, M. M.  et al. 2007	17601994				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		601487		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
152779		blood pressure, arterial body mass hypertension, ocular insulin metabolic syndrome	CARDIOVASCULAR	CARD	Hypertension|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease|Body Weight	4	4p15.1	PPARGC1A	23402741	23500798			16216916				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Caucasian		CDC GDP info	10891	Hs.527078			J Mol Endocrinol    2005    35(2)    373-80	Peroxisome proliferator-activated receptor gamma and its coactivator-1 alpha may be associated with features of the metabolic syndrome in adolescents		604517		CDC	2005	the Gly482 Ser variant of the PGC-1alpha gene may be an independent genetic risk factor for young-onset hypertension.											
152781	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Leipold, H.  et al. 2006	16443502				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			J Soc Gynecol Investig    2006    13(2)    104-7	Peroxisome proliferator-activated receptor gamma coactivator-1alpha gene variations are not associated with gestational diabetes mellitus		604517		CDC	2006												
152782		body fat diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Vimaleswaran, K. S.  et al. 2006	16446747				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Indian;Asian		CDC GDP info	10891	Hs.527078			Int J Obes (Lond)    2006	Effect of polymorphisms in the PPARGC1A gene on body fat in Asian Indians		604517		CDC	2006	Among Asian Indians, the Thr394Thr (G --> A) polymorphism is associated with increased total, visceral and subcutaneous body fat.											
152783	Y	obesity	METABOLIC	MET	Obesity	4	4p15.1	PPARGC1A	23402741	23500798		Ridderstrale, M.  et al. 2006	16474966	PPARGC1A Gly482Ser			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078	physically inactive elderly male subjects		Diabetologia    2006        1-5	Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism in physically inactive elderly men		604517		CDC	2006	 Our findings confirm that sex and age should be considered when investigating the influence of the PPARGC1A Gly482Ser polymorphism on metabolic disease. The risk of obesity associated with 482Ser is evident only in physically inactive elderly male subjects. Whenever possible, the level of physical activity should be addressed in future studies on disease risk associated with PPARGC1A Gly482Ser.		physical activity									
152784		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Wang, Y.  et al. 2006	16600233				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2		China	CDC GDP info	10891	Hs.527078			Fertil Steril    2006	Polymorphisms of the peroxisome proliferator-activated receptor-gamma and its coactivator-1alpha genes in Chinese women with polycystic ovary syndrome		604517		CDC	2006												
152785	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Wirtenberger, M.  et al. 2006	16704985				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Carcinogenesis    2006	Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer		604517		CDC	2006												
152787	Y	intima media thickness	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Iglseder, B.  et al. 2006	16902166				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Stroke    2006	Associations of PPARGC1A Haplotypes With Plaque Score But Not With Intima-Media Thickness of Carotid Arteries in Middle-Aged Subjects		604517		CDC	2006	These result are consistent with the concept that risk factors for distinct carotid phenotypes may vary and suggest, but do not prove, that PGC-1alpha may contribute to the regulation of atherogenic pathways.											
152788	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Sun, L.  et al. 2006	16978372				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Diabet Med    2006    23(10)    1085-92	The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mellitus in northern Chinese, especially men		604517		CDC	2006	The Gly482Ser variant of the PPARGC1 gene might contribute to susceptibility to T2DM in northern Chinese subjects.											
152789	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Wegner, L.  et al. 2006	16978381				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Canadian;CaucDanish		CDC GDP info	10891	Hs.527078			Diabet Med    2006    23(10)    1140-4	Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes		604517		CDC	2006	The PCK1-232C > G polymorphism is not a major contributor to the pathogenesis of Type 2 diabetes in the Danish population.											
152790	Y	bone density	METABOLIC	MET		4	4p15.1	PPARGC1A	23402741	23500798		Zhang, Z. L.  et al. 2007	17241533	Thr394Thr SNP in the PPARGC1			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Acta Pharmacol Sin    2007    28(2)    287-95	Association between SNP and haplotypes in PPARGC1 and adiponectin genes and bone mineral density in Chinese nuclear families		604517		CDC	2007	Our findings suggest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women.											
152791	Y	aerobic fitness insulin	NORMALVARIATION	NV	Insulin Resistance	4	4p15.1	PPARGC1A	23402741	23500798		Stefan, N.  et al. 2007	17327385	PPARGC1A  Gly482Ser SNP			Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			J Clin Endocrinol Metab    2007	Genetic Variations in PPARD and PPARGC1A determine Mitochondrial Function and Change in Aerobic Physical Fitness and Insulin Sensitivity during Lifestyle Intervention		604517		CDC	2007	These data provide evidence that the rs2267668 A/G SNP in PPARD and the Gly482Ser SNP in PPARGC1A have both independent and additive effects on the effectiveness of aerobic exercise training to increase aerobic physical fitness and insulin sensitivity.			PPARD	PPARD  rs2267668 A/G SNP	PPARGC1A	PPARGC1A Gly482Ser SNP					
152792		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Myles, S.  et al. 2007	17327880				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2		Polynesia	CDC GDP info	10891	Hs.527078			Eur J Hum Genet    2007	Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians		604517		CDC	2007												
152793	N	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	4	4p15.1	PPARGC1A	23402741	23500798		Shaat, N.  et al. 2007	17342473				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Scandinavian		CDC GDP info	10891	Hs.527078			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		604517		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
152794			CANCER	CAN	Neoplasms|Inflammation	4	4p15.1	PPARGC1A	23402741	23500798		Huang, H. Y.  et al. 2007	17355643				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	African American;Caucasian		CDC GDP info	10891	Hs.527078			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		604517		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
152795		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Bhat, A.  et al. 2007	17390150				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Indian		CDC GDP info	10891	Hs.527078			Hum Genet    2007	PGC-1alpha Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations		604517		CDC	2007												
152796		bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	4	4p15.1	PPARGC1A	23402741	23500798		Christoforou, A.  et al. 2007	17457313				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Mol Psychiatry    2007	Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia		604517		CDC	2007												
152797	N	body mass diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Nelson, T. L.  et al. 2007	17479445				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	non-Hispanic		CDC GDP info	10891	Hs.527078			Exp Clin Endocrinol Diabetes    2007    115(4)    268-75	The Peroxisome Proliferator-activated Receptor Gamma Coactivator-1 Alpha Gene (PGC-1alpha) is Not Associated with Type 2 Diabetes Mellitus or Body Mass Index Among Hispanic and Non Hispanic Whites from Colorado		604517		CDC	2007	we did not find an association between the PGC-1alpha gene and T2DM or BMI and there were no consistent interactions with diet, physical activity or the Pro12Ala polymorphism of the PPAR-gamma gene.											
152798	Y	endurance performance	NORMALVARIATION	NV		4	4p15.1	PPARGC1A	23402741	23500798		He, Z.  et al. 2007	17490458				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Chinese;Caucasian		CDC GDP info	10891	Hs.527078			Scand J Med Sci Sports    2007	Is there an association between PPARGC1A genotypes and endurance capacity in Chinese men?		604517		CDC	2007												
152799	Y	cardiomyopathy hypertension left ventricular hypertrophy	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Hypertension|Genetic Predisposition to Disease	4	4p15.1	PPARGC1A	23402741	23500798		Wang, S.  et al. 2007	17579564				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Clin Chem Lab Med    2007	Polymorphisms of the peroxisome proliferator-activated receptor-gamma coactivator-1alpha gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy		604517		CDC	2007	Our data indicate that variants of the PGC-1alpha gene are correlated with increased risk for HCM. Clin Chem Lab Med 2007;45.											
152800	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	5	5q32	PPARGC1B	149090056	149207462		Wirtenberger, M.  et al. 2006	16704985				Peroxisome proliferative activated receptor, gamma, coactivator 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133263.2			CDC GDP info	133522	Hs.591261			Carcinogenesis    2006	Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer		608886		CDC	2006												
152801		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q32	PPARGC1B	149090056	149207462		Park, K. S.  et al. 2006	16759305				Peroxisome proliferative activated receptor, gamma, coactivator 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133263.2	Korean		CDC GDP info	133522	Hs.591261			Diabet Med    2006    23(6)    635-42	Putative association of peroxisome proliferator-activated receptor gamma co-activator 1beta (PPARGC1B) polymorphism with Type 2 diabetes mellitus		608886		CDC	2006	The present study provides, for the first time, information about genetic polymorphisms in PPARGC1B and putative associations of one non-synonymous SNP with the risk of T2DM and serum triglyceride (TG) levels in the Korean population, although this result was not significant after correction for multiple testing.											
152802	Y	muscle testing PGC-1beta expression	NORMALVARIATION	NV		5	5q32	PPARGC1B	149090056	149207462		Ling, C.  et al. 2007	17579828	203Pro			Peroxisome proliferative activated receptor, gamma, coactivator 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133263.2			CDC GDP info	133522	Hs.591261	may be protected against an age-related decline in PPARGC1B expression in muscle		Diabetologia    2007	Impact of the peroxisome proliferator activated receptor-gamma coactivator-1beta (PGC-1beta) Ala203Pro polymorphism on in vivo metabolism, PGC-1beta expression and fibre type composition in human skeletal muscle		608886		CDC	2007	 This study suggests that young carriers of a PGC-1beta 203Pro allele have enhanced insulin-stimulated glucose metabolism and may be protected against an age-related decline in PGC-1beta expression in muscle.											
152804		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.32	PPP1R13L	50574736	50601410		Vogel, U.  et al. 2006	16690207				Protein phosphatase 1, regulatory (inhibitor) subunit 13 like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY869712			CDC GDP info	10848	Hs.466937			Cancer Lett    2006	Gene-environment interactions between smoking and a haplotype of RAI, ASE-1 and ERCC1 polymorphisms among women in relation to risk of lung cancer in a population-based study				CDC	2006			smoking (tobacco)									
152805	N	colorectal cancer	CANCER	CAN	Adenoma|Carcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	19	19q13.32	PPP1R13L	50574736	50601410		Skjelbred, C. F.  et al. 2006	16817948				Protein phosphatase 1, regulatory (inhibitor) subunit 13 like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY869712	Norwegian		CDC GDP info	10848	Hs.466937			BMC Cancer    2006    6(1)    175	Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas				CDC	2006	We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women.											
152806		multiple myeloma	CANCER	CAN	Multiple Myeloma	19	19q13.32	PPP1R13L	50574736	50601410		Vangsted, A.  et al. 2006	17131345				Protein phosphatase 1, regulatory (inhibitor) subunit 13 like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY869712			CDC GDP info	10848	Hs.466937			Int J Cancer    2006	Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation				CDC	2006												
152807	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.32	PPP1R13L	50574736	50601410		Su, D.  et al. 2007	17222938				Protein phosphatase 1, regulatory (inhibitor) subunit 13 like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY869712			CDC GDP info	10848	Hs.466937			Lung Cancer    2007	Genetic polymorphisms and treatment response in advanced non-small cell lung cancer				CDC	2007	We found that SNPs in ERCC1 and iASPP were associated with response to chemotherapy or combined chemotherapy and radiotherapy in NSCLC patients.		chemotherapy radiation									
152809	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12	PPP1R1B	35036704	35046404		Benusiglio, P. R.  et al. 2006	17117180				Protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123950			CDC GDP info	84152	Hs.286192			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer				CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
152810	Y	nicotine smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	17	17q12	PPP1R1B	35036704	35046404		Beuten, J.  et al. 2006	17171661				Protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123950	European	United States	CDC GDP info	84152	Hs.286192			Am J Med Genet B Neuropsychiatr Genet    2006	Association analysis of the protein phosphatase 1 regulatory subunit 1B (PPP1R1B) gene with nicotine dependence in European- and African-American smokers				CDC	2006	our findings provide the first evidence for the potential involvement of PPP1R1B in the etiology of ND and further investigation is thus warranted.											
152811		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q12	PPP1R1B	35036704	35046404		Hu, J. X.  et al. 2007	17618027				Protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123950			CDC GDP info	84152	Hs.286192			Prog Neuropsychopharmacol Biol Psychiatry    2007	An association study between PPP1R1B gene and schizophrenia in the Chinese population				CDC	2007												
152813	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21.3	PPP3CC	22354540	22454582		Liu, Y. L.  et al. 2007	17339875				Protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005605.3			CDC GDP info	5533	Hs.149413			Mol Psychiatry    2007	More evidence supports the association of PPP3CC with schizophrenia		114107		CDC	2007												
152814	N	obesity	METABOLIC	MET	Obesity	17		PPY	39373697	39375359		Siddiq, A.  et al. 2007	17235527				Pancreatic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002722.3			CDC GDP info	5539	Hs.558368			Diabetologia    2007	Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects		167780		CDC	2007	 These results provide evidence of association for NPY2R and PYY gene variants with obesity and none for PPY variants. A rare variant of the NPY2R gene showed evidence of co-segregation with obesity and its contribution to obesity should be investigated further.											
152815		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17		PPY	39373697	39375359		Campbell, C. D.  et al. 2007	17325259				Pancreatic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002722.3	European		CDC GDP info	5539	Hs.558368			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		167780		CDC	2007												
152816			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	11	11q14	PRCP	82213056	82289205		Lee, J. K.  et al. 2003	12768436				Prolylcarboxypeptidase (angiotensinase C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199418	Japanese;Caucasian;Korean		CDC GDP info	5547	Hs.523936			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		176785		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
152818		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	1	1p36.21	PRDM2	13899321	14024162		Cebrian, A.  et al. 2006	16501248				PR domain containing 2, with ZNF domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012231			CDC GDP info	7799	Hs.371823			Carcinogenesis    2006	Genetic variants in epigenetic genes and breast cancer risk		601196		CDC	2006												
152819	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	6	6q22	PREP	105832198	105957662		Mamdani, F.  et al. 2007	17324276				Prolyl endopeptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002726			CDC GDP info	5550	Hs.436564			BMC Psychiatry    2007    7(1)    9	No association between the PREP gene and lithium responsive bipolar disorder		600400		CDC	2007	PREP is an interesting candidate gene to investigate in genetic studies of BD, but our findings do not support the hypothesis that genetic variation in this gene plays a major role in the etiology of BD or Li response.											
152820	N	HIV	INFECTION	INF	HIV Infections|Disease Progression	10	10q22	PRF1	72027109	72032520		McIlroy, D.  et al. 2006	16611250			promoter	Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3	French		CDC GDP info	5551	Hs.2200			Int J Immunogenet    2006    33(2)    73-9	Polymorphism in the proximal promoter region of the perforin gene and its impact on the course of HIV infection		170280		CDC	2006	polymorphism in the perforin gene is limited, and although the 1012T genotype appears to influence perforin expression, it was not conclusively associated with disease progression in HIV infection.											
152822		autoimmune lymphoproliferative syndrome	IMMUNE	IMM	Lymphoproliferative Disorders|Autoimmune Diseases	10	10q22	PRF1	72027109	72032520		Clementi, R.  et al. 2006	16720836				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3			CDC GDP info	5551	Hs.2200			Blood    2006	Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective fas function		170280		CDC	2006												
152823		leukemia, acute lymphoblastic	CANCER	CAN	Burkitt Lymphoma|Leukemia, B-cell, Acute|Leukemia, Lymphocytic, Acute, L1	10	10q22	PRF1	72027109	72032520		Mehta, P. A.  et al. 2006	16791263				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3			CDC GDP info	5551	Hs.2200			Leukemia    2006	Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia		170280		CDC	2006												
152824		hemophagocytic lymphohistiocytosis	IMMUNE	IMM	Lymphohistiocytosis, Hemophagocytic	10	10q22	PRF1	72027109	72032520		Lee, S. M.  et al. 2006	16860143				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3	Caucasian		CDC GDP info	5551	Hs.2200			J Pediatr    2006    149(1)    134-137	Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation		170280		CDC	2006												
152825	Y	lymphoma	CANCER	CAN	Lymphoma, Large-cell, Ki-1|Genetic Predisposition to Disease	10	10q22	PRF1	72027109	72032520		Cannella, S.  et al. 2007	17477373				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3	Italian		CDC GDP info	5551	Hs.2200			Cancer    2007	Germline mutations of the perforin gene are a frequent occurrence in childhood anaplastic large cell lymphoma		170280		CDC	2007	Patients with childhood ALCL have a higher probability of being a carrier of a PRF1 mutation compared with healthy controls, suggesting a possible predisposing role.											
152827	Y	cholesterol cholesterol, HDL cholesterol, LDL	METABOLIC	MET		1	1p31	PRKAA2	56883607	56946709		Spencer-Jones, N. J.  et al. 2006	16801347				Protein kinase, AMP-activated, alpha 2 catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006252	Caucasian		CDC GDP info	5563	Hs.591439			J Med Genet    2006	Amp-kinase alpha2 subunit gene prkaa2 variants are associated with total-, ldl- and hdl-cholesterol in normal females		600497		CDC	2006	PRKAA2 gene variants are significantly associated with serum lipoproteins in a large sample of normal female Caucasians.											
152829	N	autism	PSYCH	PSY	Autistic Disorder	16	16p11.2	PRKCB1	23754822	24139431		Yang, M. S.  et al. 2007	17167344				Protein kinase C, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_212535.1	Irish		CDC GDP info	5579	Hs.460355			Psychiatr Genet    2007    17(1)    39-41	Protein kinase C-beta 1 gene variants are not associated with autism in the Irish population		176970		CDC	2007												
152830	Y	attention deficit hyperactivity disorder conduct disorder novelty seeking substance experimentation	PSYCH	PSY	Substance-Related Disorders|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity|Conduct Disorder|Antisocial Personality Disorder	19	19q13.4	PRKCG	59077278	59102713		Schlaepfer, I. R.  et al. 2007	17508994				Protein kinase C, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002739.3	Hispanic Caucasian		CDC GDP info	5582	Hs.631564			Addict Biol    2007    12(2)    200-9	The human protein kinase C gamma gene (PRKCG) as a susceptibility locus for behavioral disinhibition		176980		CDC	2007	our results support the role of the PKC-gamma enzyme in behavioral impulsivity previously observed in mice. This study provides the first exploration of the PRKCG gene and its association with behavioral disinhibition and warrants further study in other larger population samples.											
152831	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	14	14q22-q23	PRKCH	60858267	61087451		Takata, Y.  et al. 2006	17195206				Protein kinase C, eta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC037268			CDC GDP info	5583	Hs.333907			Arthritis Rheum    2006    56(1)    30-42	Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population		605437		CDC	2006	Our results provide evidence of the involvement of PRKCH as a susceptibility gene for RA in the Japanese population.											
152832	Y	liver disease, polycystic	OTHER	OTH	Cysts|Liver Diseases	19	19p13.2	PRKCSH	11407268	11422782		Waanders, E.  et al. 2006	16835903				Protein kinase C substrate 80K-H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002743			CDC GDP info	5589	Hs.610830			Hum Mutat    2006    27(8)    830	Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease		177060		CDC	2006	both PRKCSH and SEC63 mutations are associated with polycystic liver disease.											
152833	N	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	8	8q11	PRKDC	48848221	49035296		Hirata, H.  et al. 2006	16510122				Protein kinase, DNA-activated, catalytic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006904.6		Japan	CDC GDP info	5591	Hs.491682			Biochem Biophys Res Commun    2006	Polymorphisms of DNA repair genes are associated with renal cell carcinoma		600899		CDC	2006												
152835		brain cancer	CANCER	CAN		8	8q11	PRKDC	48848221	49035296		Liu, Y.  et al. 2007	17389609				Protein kinase, DNA-activated, catalytic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006904.6			CDC GDP info	5591	Hs.491682			Carcinogenesis    2007	Tagging SNPs in Nonhomologous End-Joining Pathway Genes and Risk of Glioma		600899		CDC	2007	genetic variants of the genes involved in the DSB repair pathway may play a role in the etiology of glioma.											
152836	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p22.2-p21.3	PRL	22395458	22411061		Vaclavicek, A.  et al. 2006	16434456				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2	German		CDC GDP info	5617	Hs.1905			J Clin Endocrinol Metab    2006	Association of prolactin and its receptor gene regions with familial breast cancer		176760		CDC	2006	Genetic variation in the PRL and PRLR genes was shown to influence BC risk.											
152837		lupus erythematosus rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic	6	6p22.2-p21.3	PRL	22395458	22411061		Fojtikova, M.  et al. 2007	17468404			promoter	Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			CDC GDP info	5617	Hs.1905			Ann Rheum Dis    2007    66(5)    706-7	Extrapituitary prolactin promoter polymorphism in Czech patients with systemic lupus erythematosus and rheumatoid arthritis		176760		CDC	2007												
152838		prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6p22.2-p21.3	PRL	22395458	22411061		Cunningham, J. M.  et al. 2007	17507624				Prolactin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000948.2			CDC GDP info	5617	Hs.1905			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		176760		CDC	2007												
152839	Y	breast cancer	CANCER	CAN	Breast Neoplasms	5	5p14-p13	PRLR	35084617	35266334		Vaclavicek, A.  et al. 2006	16434456				Prolactin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000949.2	German		CDC GDP info	5618	Hs.368587			J Clin Endocrinol Metab    2006	Association of prolactin and its receptor gene regions with familial breast cancer		176761		CDC	2006	Genetic variation in the PRL and PRLR genes was shown to influence BC risk.											
152841	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	16	16p13.2	PRM2	11276993	11277838		Aoki, V. W.  et al. 2006	16989827				Protamine 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM908145		Utah	CDC GDP info	5620	Hs.2324			Fertil Steril    2006	Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility		182890		CDC	2006	A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.											
152842		Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRND	4650555	4657106		Geldermann, H.  et al. 2006	16889908				Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2			CDC GDP info	23627	Hs.406696			Gene    2006	Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients		604263		CDC	2006												
152843	P	Creutzfeld-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRND	4650555	4657106		Vollmert, C.  et al. 2006	17047093			5' untranslated region	Prion protein 2 (dublet)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012409.2	German	Germany	CDC GDP info	23627	Hs.406696			J Med Genet    2006    43(10)    e53	Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study		604263		CDC	2006	Our study evaluated previous findings of the association of SNPs in the PRNP and PRND genes in the largest cohorts for association study in sCJD to date, and extends previous findings by defining for the first time the haplotypes associated with sCJD in a large population of the German CJD surveillance study.											
152844			NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234			16547836				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	European;Greek	Greece	CDC GDP info	5621	Hs.472010			Eur J Epidemiol    2006    21(3)    211-5	Analysis of PRNP Gene Codon 129 Polymorphism in the Greek Population		176640		CDC	2006												
152845	N	epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe	20	20pter-p12	PRNP	4614796	4630234		Coimbra, E. R.  et al. 2006	16580884	PRNP  codons 129 and 171			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDP info	5621	Hs.472010			Epilepsy Behav    2006	Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171		176640		CDC	2006												
152846	Y	Wilson disease	METABOLIC	MET	Liver Diseases|Hepatolenticular Degeneration|Nervous System Diseases	20	20pter-p12	PRNP	4614796	4630234		Merle, U.  et al. 2006	16831968	PRNP  polymorphism M129V			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDP info	5621	Hs.472010			Arch Neurol    2006    63(7)    982-985	Influence of Homozygosity for Methionine at Codon 129 of the Human Prion Gene on the Onset of Neurological and Hepatic Symptoms in Wilson Disease		176640		CDC	2006	This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease.											
152847		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	20	20pter-p12	PRNP	4614796	4630234		Costa, M. D.  et al. 2006	16858508				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Portuguese		CDC GDP info	5621	Hs.472010			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		176640		CDC	2006												
152848		Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234		Geldermann, H.  et al. 2006	16889908				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDP info	5621	Hs.472010			Gene    2006	Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients		176640		CDC	2006												
152849	P	Creutzfeld-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20pter-p12	PRNP	4614796	4630234		Vollmert, C.  et al. 2006	17047093			5' untranslated region	Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	German	Germany	CDC GDP info	5621	Hs.472010			J Med Genet    2006    43(10)    e53	Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study		176640		CDC	2006	Our study evaluated previous findings of the association of SNPs in the PRNP and PRND genes in the largest cohorts for association study in sCJD to date, and extends previous findings by defining for the first time the haplotypes associated with sCJD in a large population of the German CJD surveillance study.											
152851		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Bertram, L.  et al. 2007	17192785				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDP info	5621	Hs.472010			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		176640		CDC	2007	odds ratios (ranging from 1.											
152852	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Ahn, K.  et al. 2006	17202849				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Caucasian;Korean	Korea	CDC GDP info	5621	Hs.472010			Exp Mol Med    2006    38(6)    727-31	No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population		176640		CDC	2006												
152853	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	20	20pter-p12	PRNP	4614796	4630234		Qian, H. R.  et al. 2006	17313881	M and V homozygosity			Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	European		CDC GDP info	5621	Hs.472010			Zhonghua Nei Ke Za Zhi    2006    45(11)    922-5	The relationship between prion protein gene codon 129 polymorphism and Alzheimer's disease.		176640		CDC	2006	In European population, PRNP M and V homozygosity is not statistically significantly associated with the onset of AD.											
152854		dementia, vascular	PSYCH	PSY	Dementia, Vascular	20	20pter-p12	PRNP	4614796	4630234		Jeong, B. H.  et al. 2007	17570906				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2	Korean		CDC GDP info	5621	Hs.472010			Dement Geriatr Cogn Disord    2007    24(2)    86-90	Absence of Association between Codon 129 and 219 Polymorphisms of the Prion Protein Gene and Vascular Dementia		176640		CDC	2007	Codon 129 (M129V) and 219 (Q219K) polymorphisms in Korean VaD patients were found in the open reading frame of PRNP.											
152855		Creutzfeldt-Jakob disease	NEUROLOGICAL	NEUR	Creutzfeldt-Jakob Syndrome	20	20p13	PRNT	4659927	4669314		Geldermann, H.  et al. 2006	16889908				Prion protein (testis specific)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ427540			CDC GDP info	149830	Hs.126516			Gene    2006	Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients				CDC	2006												
152857		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	2	2q13-q14	PROC	127892486	127903288		Hiltunen, L.  et al. 2007	16765424				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			CDC GDP info	5624	Hs.224698			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		176860		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
152858	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		2	2q13-q14	PROC	127892486	127903288		Wadelius, M.  et al. 2006	17048007				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			CDC GDP info	5624	Hs.224698			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		176860		CDC	2006												
152859	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	2	2q13-q14	PROC	127892486	127903288		Biron-Andreani, C.  et al. 2006	17107352				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			CDC GDP info	5624	Hs.224698			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		176860		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
152862	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Diabetes Mellitus, Type 2	20	20q11.2	PROCR	33222387	33228826		Ireland, H.  et al. 2005	15921688				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3	European;Indian		CDC GDP info	10544	Hs.356273		Increased shedding of EPCR from endothelium	Atherosclerosis    2005    183(2)    283-92	EPCR Ser219Gly		600646		CDC	2005	Gly homozygotes have 3-fold increased risk of cardiovascular disease in prospective study; tendency for protection against cardiovascular disease in heterozygotes but suggested risk interaction for genotype with factors present within metabolic syndrome in case-control study; increased soluble EPCR levels and increased prothrombin F1+2 for Gly allele	Prospective study (NPHSII);Case-control study (HIFMECH); Type 2 diabetes (Ealing Diabetes Study)	metabolic syndrome									
152863		sepsis	INFECTION	INF	Sepsis	20	20q11.2	PROCR	33222387	33228826		Sipahi, T.  et al. 2006	16444434				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDP info	10544	Hs.356273			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		600646		CDC	2006												
152864	Y	stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident	20	20q11.2	PROCR	33222387	33228826		Ulu, A.  et al. 2006	17027065	PROCR A3 haplotype	there is a strong association between A3 haplotype and elevated sEPCR levels		Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDP info	10544	Hs.356273			Thromb Res    2006	EPCR gene A3 haplotype and elevated soluble endothelial protein C receptor (sEPCR) levels in Turkish pediatric stroke patients		600646		CDC	2006	None of the patients with sEPCR levels below 100 ng/ml carried the A3 haplotype, while patients with elevated sEPCR levels carried the A3 haplotype either in a heterozygous or homozygous state. Our study confirms that there is a strong association between A3 haplotype and elevated sEPCR levels. We suggest that elevated sEPCR levels might increase the risk of stroke at pediatric age when compared to controls. Studies with large series of patients are warranted to confirm this hypothesis.											
152865	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	20	20q11.2	PROCR	33222387	33228826		Kaare, M.  et al. 2006	17099210				Protein C receptor, endothelial (EPCR)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006404.3			CDC GDP info	10544	Hs.356273			Hum Reprod    2006	Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage		600646		CDC	2006	These data suggest that mutations in the TM or EPCR genes are not a major cause of RM, although they may exert a modifier effect in combination with other variants.											
152866		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Li, D.  et al. 2006	16791139				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			CDC GDP info	5625	Hs.517352			Eur J Hum Genet    2006    14(10)    1130-5	Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia		606810		CDC	2006												
152867		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Glaser, B.  et al. 2006	16860541				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2	European		CDC GDP info	5625	Hs.517352			Schizophr Res    2006	Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility		606810		CDC	2006												
152869	Y	schizophrenia	PSYCH	PSY		22	22q11.21	PRODH	17280294	17304066		Zinkstok, J.  et al. 2007	17504246				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			CDC GDP info	5625	Hs.517352			Genes Brain Behav    2007	Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia		606810		CDC	2007												
152871		combined pituitary hormone deficiency	METABOLIC	MET	Hypopituitarism	5	5q35.3	PROP1	177351841	177355849		Halasz, Z.  et al. 2006	17526936				Prophet of Pit1, paired-like homeodomain transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006261.2			CDC GDP info	5626	Hs.158301			Endocrine    2006    30(3)    255-260	High Prevalence of PROP1 Gene Mutations in Hungarian Patients with Childhood-Onset Combined Anterior Pituitary Hormone Deficiency		601538		CDC	2006												
152872	P		NORMALVARIATION	NV		3	3q11.2	PROS1	95074646	95175395		Chumpia, W.  et al. 2006	16607073				Protein S (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000313.1	Thai		CDC GDP info	5627	Hs.64016			Blood Coagul Fibrinolysis    2006    17(1)    13-18	Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population		176880		CDC	2006												
152873		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	3	3q11.2	PROS1	95074646	95175395		Miyata, T.  et al. 2006	16720551				Protein S (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000313.1			CDC GDP info	5627	Hs.64016			Int J Hematol    2006    83(3)    217-23	Genetic risk factors for deep vein thrombosis among Japanese		176880		CDC	2006												
152875		warfarin sensitivity	PHARMACOGENOMIC	PHARM		13	13q34	PROZ	112860968	112874695		Wadelius, M.  et al. 2006	17048007				Protein Z, vitamin K-dependent plasma glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003891.1			CDC GDP info	8858	Hs.1011			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		176895		CDC	2006												
152876		retinitis pigmentosa	VISION	VIS	Retinitis Pigmentosa	19	19q13.42	PRPF31	59310648	59326954		Waseem, N. H.  et al. 2007	17325180				PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015629		Great Britain	CDC GDP info	26121	Hs.515598			Invest Ophthalmol Vis Sci    2007    48(3)    1330-4	Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31, in Patients with Autosomal Dominant Retinitis Pigmentosa		606419		CDC	2007	Mutations in PRPF31 causing adRP were present in nearly 5% of a mixed U.K. population. The age of onset and the severity of the disease varied with different mutations. In addition, individuals carrying the same mutation showed a range of phenotypic variation, suggesting the involvement of other modifying genes.											
152878	Y	pancreatitis, acute pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease|Recurrence	7	7q32-qter	PRSS1	142136903	142182363		Sobczynska-Tomaszewska, A.  et al. 2006	16954950				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDP info	5644	Hs.511522			J Pediatr Gastroenterol Nutr    2006    43(3)    299-306	Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis		276000		CDC	2006	PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease.											
152879		pancreatitis, chronic pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease	7	7q32-qter	PRSS1	142136903	142182363		Keiles, S.  et al. 2006	17003641				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2			CDC GDP info	5644	Hs.511522			Pancreas    2006    33(3)    221-7	Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis (GT)		276000		CDC	2006	Comprehensive testing of the CFTR, PRSS1, and SPINK1 genes identified genetic variants in nearly half of all subjects considered by their physicians as candidates for genetic testing.											
152880		pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	7	7q32-qter	PRSS1	142136903	142182363		Tzetis, M.  et al. 2007	17489851				Protease, serine, 1 (trypsin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002769.2	Greek		CDC GDP info	5644	Hs.511522			Clin Genet    2007    71(5)    451-7	Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis		276000		CDC	2007												
152881	Y	pancreatitis, chronic	IMMUNE	IMM	Chronic Disease	7	7q34	PRSS2	142136903	142182363		Witt, H. et.al.  et al. 2006	16699518				Protease, serine, 2 (trypsin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM805032			CDC GDP info	5645	Hs.622865			Nat Genet    2006	A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis		601564		CDC	2006	the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby protects against chronic pancreatitis.											
152882		vascular disease	CARDIOVASCULAR	CARD	Vasculitis	19	19p13.3	PRTN3	791984	799175		Abdgawad, M.  et al. 2006	16792675				Proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002777.3			CDC GDP info	5657	Hs.928			Clin Exp Immunol    2006    145(1)    63-70	Increased neutrophil membrane expression and plasma level of proteinase 3 in systemic vasculitis are not a consequence of the - 564 A/G promotor polymorphism		177020		CDC	2006	increased plasma PR3 and high expression of mPR3 are associated with small vessel vasculitis, but neither of them is a consequence of the - 564 A/G polymorphism of the PR3 gene promotor.											
152884	P	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862			16423463				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Sardinian		CDC GDP info	5663	Hs.592324			Neurosci Lett    2006	Genetic study of Sardinian patients with Alzheimer's disease		104311		CDC	2006	these results show the existence of Sardinian genetic peculiarities, essential in studies regarding genetically inherited and multifactorial disorders, as AD.											
152885	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Jia, L.  et al. 2006	16938285			Intron	Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2		China	CDC GDP info	5663	Hs.592324			Brain Res    2006	Association between presenilin 1 intronic polymorphism and late onset Alzheimer's disease in the North Chinese population		104311		CDC	2006	we found an association between presenilin 1 intronic polymorphism and LOAD, but no influence of APOE epsilon4 on the distribution of the PS1 intronic polymorphism.											
152886		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Albani, D.  et al. 2006	16952411				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2	Australian;Italian		CDC GDP info	5663	Hs.592324			Neurobiol Aging    2006	Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population		104311		CDC	2006												
152888		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q24.3	PSEN1	72672931	72756862		Scacchi, R.  et al. 2007	17412506				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDP info	5663	Hs.592324			Neurosci Lett    2007	A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease		104311		CDC	2007												
152889	P	Alzheimers disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422			16423463				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1	Sardinian		CDC GDP info	5664	Hs.25363			Neurosci Lett    2006	Genetic study of Sardinian patients with Alzheimer's disease		600759		CDC	2006	these results show the existence of Sardinian genetic peculiarities, essential in studies regarding genetically inherited and multifactorial disorders, as AD.											
152891	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.12	PSENEN	40928333	40935574		Jia, L.  et al. 2007	17280645				Presenilin enhancer 2 homolog (C. elegans)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ222622		China	CDC GDP info	55851	Hs.534465			Brain Res    2007	Genetic association between polymorphisms of Pen2 gene and late onset Alzheimer's disease in the North Chinese population		607632		CDC	2007												
152892	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Atherosclerosis	14	14q13	PSMA6	34831324	34856431		Takashima, N.  et al. 2007	17384448				Proteasome (prosome, macropain) subunit, alpha type, 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209589			CDC GDP info	5687	Hs.446260			Circ J    2007    71(4)    495-8	Validation of the Association Between the Gene Encoding Proteasome Subunit alpha Type 6 and Myocardial Infarction in a Japanese Population		602855		CDC	2007	The reported genotype in PSMA6 appears not to contribute appreciably to MI, but may contribute slightly to atherosclerosis in the present study population.											
152893	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	14	14q13	PSMA6	34831324	34856431		Sjakste, T.  et al. 2007	17535269				Proteasome (prosome, macropain) subunit, alpha type, 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209589			CDC GDP info	5687	Hs.446260			Ann Hum Genet    2007	Association of Microsatellite Polymorphisms of the Human 14q13.2 Region with Type 2 Diabetes Mellitus in Latvian and Finnish Populations		602855		CDC	2007	our data suggest that variants in the PSMA6 gene on chromosome 14q13.											
152894		diabetes, type 2 myocardial infarct	METABOLIC	MET	Myocardial Infarction|Diabetes Mellitus, Type 2	14	14q13	PSMA6	34831324	34856431		Sjakste, T.  et al. 2007	17555133				Proteasome (prosome, macropain) subunit, alpha type, 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209589	European		CDC GDP info	5687	Hs.446260			Genetika    2007    43(4)    553-9	SNPs of PSMA6 gene--investigation of possible association with myocardial infarction and type 2 diabetes mellitus		602855		CDC	2007												
152896		diabetes, type 1	IMMUNE	IMM		6	6p21.3	PSMB8	32916471	32920690		Sia, C.  et al. 2005	17491658				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDP info	5696	Hs.180062			Rev Diabet Stud    2005    2(1)    40-52	Genetic susceptibility to type 1 diabetes in the intracellular pathway of antigen processing - a subject review and cross-study comparison		177046		CDC	2005												
152897		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Xu, C.  et al. 2007	17525827				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDP info	5696	Hs.180062			J Clin Immunol    2007	Genetic Polymorphisms of LMP/TAP Gene and Hepatitis B Virus Infection Risk in the Chinese Population		177046		CDC	2007												
152898	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSMB8	32916471	32920690		Kramer, U.  et al. 2007	17581627				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4	Caucasian;German		CDC GDP info	5696	Hs.180062			Genes Immun    2007	Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype		177046		CDC	2007												
152900	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSMB9	32929915	32935606		Kramer, U.  et al. 2007	17581627				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4	Caucasian;German		CDC GDP info	5698	Hs.132682			Genes Immun    2007	Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype		177045		CDC	2007												
152901		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12		PSMD9	120811028	120840154		Gragnoli, C.  et al. 2007	17516568				Proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002813.4	Italian		CDC GDP info	5715	Hs.131151			J Cell Physiol    2007	PSMD9 gene variants within NIDDM2 may rarely contribute to type 2 diabetes		603146		CDC	2007												
152902		psoriasis vulgaris	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSORS1				Huffmeier, U.  et al. 2006	16339849				major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XR_015693	German		CDC GDP info	3107	Hs.656020			J Med Genet    2006    43(6)    517-22	Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients		142840		CDC	2006												
152903		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	PSORS1				Reich, K.  et al. 2007	17530646				major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=XR_015693			CDC GDP info	3107	Hs.656020			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		142840		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
152904	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	PSORS1C3				Chang, Y. T.  et al. 2006	16965413				psoriasis susceptibility 1 candidate 3		Chinese;Caucasian		CDC GDP info	170681				Br J Dermatol    2006    155(4)    663-9	Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes				CDC	2006	The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.											
152905	N	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	17	17q	PSORS2				Giardina, E.  et al. 2006	16733365				psoriasis susceptibility 2		Italian		CDC GDP info	5722				Hum Hered    2006    61(2)    120-122	PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population		602723		CDC	2006												
152906	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	4	4q31	IL15	142777203	142874062		Zhang, X. J.  et al. 2007	17554368				Interleukin 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172174.1			CDC GDP info	3600	Hs.168132			J Invest Dermatol    2007	Polymorphisms in Interleukin-15 Gene on Chromosome 4q31.2 Are Associated with Psoriasis Vulgaris in Chinese Population		600554		CDC	2007												
152907		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Autoimmune Diseases|Genetic Predisposition to Disease	15	15q24-q25.1	PSTPIP1	75074608	75116726		Kone-Paut, I.  et al. 2007	17213252				Proline-serine-threonine phosphatase interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR593209			CDC GDP info	9051	Hs.129758			Ann Rheum Dis    2007	Autoinflammatory gene mutations in Behcet's disease		606347		CDC	2007												
152908		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms|Genetic Predisposition to Disease	9	9q22.3	PTCH1	97246218	97319160		Liboutet, M.  et al. 2006	16645598				Patched homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001083602	French	France	CDC GDP info	5727	Hs.494538			J Invest Dermatol    2006	MC1R and PTCH Gene Polymorphism in French Patients with Basal Cell Carcinomas		601309		CDC	2006												
152909		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	10	10q23.3	PTEN	89613174	89718512		Bilbao, C.  et al. 2006	16506206				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Int J Cancer    2006	The relationship between microsatellite instability and PTEN gene mutations in endometrial cancer		601728		CDC	2006												
152911	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Bar-Shira, A.  et al. 2006	16598737				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3	Ashkenazi;Jewish		CDC GDP info	5728	Hs.500466			Prostate    2006	Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6		601728		CDC	2006	We found no evidence that MSR1 and PTEN germline mutations are associated with prostate cancer risk in Jews.											
152912	N	breast cancer prostate cancer	CANCER	CAN	Breast Neoplasms|Prostatic Neoplasms	10	10q23.3	PTEN	89613174	89718512		Haiman, C. A.  et al. 2006	16702386				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3		Los Angeles|Hawaii	CDC GDP info	5728	Hs.500466			Cancer Epidemiol Biomarkers Prev    2006    15(5)    1021-5	Common Genetic Variation at PTEN and Risk of Sporadic Breast and Prostate Cancer		601728		CDC	2006	our results show that common variants in PTEN do not substantially influence risk of these two common cancers.											
152913	Y	ovarian cancer	CANCER	CAN	Carcinoma, Endometrioid|Ovarian Neoplasms	10	10q23.3	PTEN	89613174	89718512		Kolasa, I. K.  et al. 2006	16793127				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Gynecol Oncol    2006	PTEN mutation, expression and LOH at its locus in ovarian carcinomas. Relation to TP53, K-RAS and BRCA1 mutations		601728		CDC	2006	Our results suggest that PTEN mutations may play a role in a development of low-grade endometrioid tumors. PTEN haploinsufficiency caused by LOH or epigenetic events may possibly contribute to development of other histological types and may be an adverse prognostic factor.											
152914		autism	PSYCH	PSY	Craniofacial Abnormalities|Abnormalities, Multiple|Syndrome|Autistic Disorder	10	10q23.3	PTEN	89613174	89718512		Buxbaum, J. D.  et al. 2007	17427195				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Am J Med Genet B Neuropsychiatr Genet    2007	Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly		601728		CDC	2007												
152915		colorectal cancer endometrial cancer	CANCER	CAN	Colorectal Neoplasms|Endometrial Neoplasms	10	10q23.3	PTEN	89613174	89718512		Ollikainen, M.  et al. 2007	17471559				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Int J Cancer    2007	Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma		601728		CDC	2007												
152917	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	14	14q22.1	PTGDR	51804180	51813192		Sanz, C.  et al. 2006	16629782			promoter	Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2	Spanish;Caucasian		CDC GDP info	5729	Hs.306831			Allergy    2006    61(5)    543-8	Promoter genetic variants of prostanoid DP receptor (PTGDR) gene in patients with asthma		604687		CDC	2006	We identified a specific promoter variant of PTGDR that could be associated with asthma.											
152918	N	asthma IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	14	14q22.1	PTGDR	51804180	51813192		Tsai, Y. J.  et al. 2006	17157653				Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2	African American;Mexican	Puerto Rico	CDC GDP info	5729	Hs.306831			J Allergy Clin Immunol    2006    118(6)    1242-8	The PTGDR gene is not associated with asthma in 3 ethnically diverse populations		604687		CDC	2006	the PTGDR gene is not a significant risk factor for asthma among Puerto Ricans, Mexicans, or African Americans.											
152920	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	14	14q22.1	PTGDR	51804180	51813192		Zhu, G.  et al. 2007	17538632				Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2	Caucasian;Danish		CDC GDP info	5729	Hs.306831			Genes Immun    2007	Association of PTGDR gene polymorphisms with asthma in two Caucasian populations		604687		CDC	2007												
152921	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	9	9q34.2-q34.3	PTGDS	138989366	138996015		Ruano, D.  et al. 2007	17230501				Prostaglandin D2 synthase 21kDa (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000954.5			CDC GDP info	5730	Hs.446429			Am J Med Genet B Neuropsychiatr Genet    2007	Family-based and case-control studies reveal no association of lipocalin-type prostaglandin D2 synthase with schizophrenia		176803		CDC	2007												
152922	N	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	19	19p13.1	PTGER1	14444277	14447174		Kim, S. H.  et al. 2007	17496729				Prostaglandin E receptor 1 (subtype EP1), 42kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919091			CDC GDP info	5731	Hs.159360			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		176802		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152924	Y	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	14	14q22	PTGER2	51850862	51865072		Kim, S. H.  et al. 2007	17496729				Prostaglandin E receptor 2 (subtype EP2), 53kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000956			CDC GDP info	5732	Hs.2090			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		176804		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152926	Y	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	5	5p13.1	PTGER4	40715788	40729594		Kim, S. H.  et al. 2007	17496729				Prostaglandin E receptor 4 (subtype EP4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000958			CDC GDP info	5734	Hs.199248			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		601586		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152927		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9q34.11	PTGES2	129922792	129930533		Fisher, E.  et al. 2007	17266179				Prostaglandin E synthase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057049	European		CDC GDP info	80142	Hs.495219			Mol Nutr Food Res    2007    51(2)    185-191	Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - Role of fat assimilation		608152		CDC	2007												
152928	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	9	9q34.11	PTGES2	129922792	129930533		Nitz, I.  et al. 2007	17566096				Prostaglandin E synthase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057049	Caucasian		CDC GDP info	80142	Hs.495219			J Clin Endocrinol Metab    2007	Association of Prostaglandin E Synthase 2 (PTGES2) Arg298His Polymorphism with Type 2 Diabetes in two German Study Populations		608152		CDC	2007	We obtained evidence from two Caucasian study populations that the His298-allele of PTGES2 Arg298His confers to reduced risk of type 2 diabetes.											
152929	Y	latanoprost efficacy	PHARMACOGENOMIC	PHARM		1	1p31.1	PTGFR	78729315	78778974		Sakurai, M.  et al. 2007	17467803	rs3753380 and rs3766355, SNPs in the promoter and intron 1 regions			Prostaglandin F receptor (FP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039585			CDC GDP info	5737	Hs.654365			Ophthalmology    2007	Association between Genetic Polymorphisms of the Prostaglandin F(2alpha) Receptor Gene and Response to Latanoprost	rs3753380 and rs3766355	600563		CDC	2007	rs3753380 and rs3766355, SNPs in the promoter and intron 1 regions of the FP receptor gene, correlate with a response to short-term latanoprost treatment in normal volunteers. The genotype of these SNPs may be an important determinant of variability in response to latanoprost.											
152930	N	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	1	1p31.1	PTGFR	78729315	78778974		Kim, S. H.  et al. 2007	17496729				Prostaglandin F receptor (FP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039585			CDC GDP info	5737	Hs.654365			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		600563		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152932	Y	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	19	19q13.3	PTGIR	51815564	51820194		Kim, S. H.  et al. 2007	17496729				Prostaglandin I2 (prostacyclin) receptor (IP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC075814			CDC GDP info	5739	Hs.458324			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		600022		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152933		colon polyps	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Genetic Predisposition to Disease	20	20q13.11-q13.13	PTGIS	47553817	47618114			16537708				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDP info	5740	Hs.302085			Cancer Epidemiol Biomarkers Prev    2006    15(3)    502-8	Prostacyclin synthase and arachidonate 5-lipoxygenase polymorphisms and risk of colorectal polyps		601699		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
152934	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	20	20q13.11-q13.13	PTGIS	47553817	47618114		Yamada, Y.  et al. 2006	17070428				Prostaglandin I2 (prostacyclin) synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000961.3			CDC GDP info	5740	Hs.302085			Am J Hypertens    2006    19(11)    1158-65	Assessment of the genetic component of hypertension		601699		CDC	2006	These results suggest that the genotypes for ITGA2, GCK, and PTGIS may prove reliable for the assessment of the genetic component of hypertension.											
152935	N	colorectal cancer	PHARMACOGENOMIC	PHARM	Adenoma|Colorectal Neoplasms	9	9q32-q33.3	PTGS1	124173049	124197802		Siezen, C. L.  et al. 2006	16344721				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			Pharmacogenet Genomics    2006    16(1)    43-50	Protective effect of nonsteroidal anti-inflammatory drugs on colorectal adenomas is modified by a polymorphism in peroxisome proliferator-activated receptor delta		176805		CDC	2006	This study confirms the protective effect of NSAIDs and suggests a modulating effect of a SNP in the promoter of PPARdelta.		nonsteroidal anti-inflammatory (NSAID)									
152937	N	analgesic response	PHARMACOGENOMIC	PHARM	Pain, Postoperative	9	9q32-q33.3	PTGS1	124173049	124197802		Lee, Y. S.  et al. 2006	16678543				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			Clin Pharmacol Ther    2006    79(5)    407-418	Genetically mediated interindividual variation in analgesic responses to cyclooxygenase inhibitory drugs		176805		CDC	2006	These results suggest that wide variability in gene expression and functional polymorphisms in PTGS2 may explain part of the interindividual variations in acute pain and the analgesic efficacy of nonsteroidal anti-inflammatory drugs and selective COX-2 inhibitors; this may be useful to define individual responders on the basis of genetic variations to predict patient risk and benefit to drugs.		ibuprofen rofecoxib									
152938		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	9	9q32-q33.3	PTGS1	124173049	124197802		Kranzhofer, R.  et al. 2006	16702043				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			Platelets    2006    17(3)    163-9	Aspirin resistance in coronary artery disease is correlated to elevated markers for oxidative stress but not to the expression of cyclooxygenase (COX) 1/2, a novel COX-1 polymorphism or the PlA(1/2) polymorphism		176805		CDC	2006	AR appears to be unrelated to differences in platelet COX-1 and COX-2 expression or to a novel platelet COX-1 SNP and the PlA(1)/A(2) SNP. However, a correlation exists to elevated eicosanoids generated by oxidative stress indicating COX-1-independent pathways for the generation of platelet activating molecules represent a potential cause for AR.											
152939	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	9	9q32-q33.3	PTGS1	124173049	124197802		Landi, S.  et al. 2006	17062130				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		176805		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
152940		peptic ulcer	OTHER	OTH	Peptic Ulcer Hemorrhage	9	9q32-q33.3	PTGS1	124173049	124197802		van Oijen, M. G.  et al. 2006	17078001				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			Dig Dis Sci    2006	Effect of a Specific Cyclooxygenase-Gene Polymorphism (A-842G/C50T) on the Occurrence of Peptic Ulcer Hemorrhage		176805		CDC	2006												
152941			CANCER	CAN	Neoplasms|Inflammation	9	9q32-q33.3	PTGS1	124173049	124197802		Huang, H. Y.  et al. 2007	17355643				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2	African American;Caucasian		CDC GDP info	5742	Hs.201978			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		176805		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
152942		heart disease, ischemic stroke	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis|Genetic Predisposition to Disease	9	9q32-q33.3	PTGS1	124173049	124197802		Lee, C. R.  et al. 2007	17495879				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2	African American;Caucasian		CDC GDP info	5742	Hs.201978			Clin Pharmacol Ther    2007	Cyclooxygenase Polymorphisms and Risk of Cardiovascular Events		176805		CDC	2007			aspirin									
152943		aspirin resistance	PHARMACOGENOMIC	PHARM		9	9q32-q33.3	PTGS1	124173049	124197802		Li, Q.  et al. 2007	17559347				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2	Chinese;Caucasian		CDC GDP info	5742	Hs.201978			Pharmacogenomics    2007    8(6)    577-586	Frequency of genetic polymorphisms of COX1, GPIIIa and P2Y1 in a Chinese population and association with attenuated response to aspirin		176805		CDC	2007	The COX1 A-842G, C50T and GPIIIa PLA1/A2 polymorphisms are rare in Chinese. In contrast to previous studies in Caucasian populations, these candidate functional polymorphisms are unlikely to be significant contributors to aspirin pharmacodynamics in Chinese persons. Importantly, the presence of the P2Y1 893CC genotype appears to confer an attenuated antiplatelet effect during aspirin treatment in healthy Chinese volunteers. These data collectively underscore the importance of population-to-population variability in clinical pharmacogenetics research and provide a basis for further long-term studies of aspirin response and P2Y1 genetic variation in patients with cardiovascular risk.											
152944			NORMALVARIATION	NV		1	1q25.2-q25.3	PTGS2	184907591	184916179		Hamajima, N.  et al. 2002	12164325				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		600262		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
152945		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179			15882925				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Cancer Lett    2005    226(1)    49-54	A genetic polymorphism in prostaglandin synthase 2 (8473, T-->C) and the risk of lung cancer		600262		CDC	2005												
152946	N	colorectal cancer	PHARMACOGENOMIC	PHARM	Adenoma|Colorectal Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Siezen, C. L.  et al. 2006	16344721				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Pharmacogenet Genomics    2006    16(1)    43-50	Protective effect of nonsteroidal anti-inflammatory drugs on colorectal adenomas is modified by a polymorphism in peroxisome proliferator-activated receptor delta		600262		CDC	2006	This study confirms the protective effect of NSAIDs and suggests a modulating effect of a SNP in the promoter of PPARdelta.		nonsteroidal anti-inflammatory (NSAID)									
152947		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179			16407418				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		600262		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
152948		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Valdes, A. M.  et al. 2006	16453284				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Great Britain	CDC GDP info	5743	Hs.196384			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		600262		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
152949	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Atherosclerosis|Genetic Predisposition to Disease|Inflammation	1	1q25.2-q25.3	PTGS2	184907591	184916179		Orbe, J.  et al. 2006	16458279	PTGS2   (COX2)  -765G>C			Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384	protection		Clin Chim Acta    2006	Protective effect of the G-765C COX-2 polymorphism on subclinical atherosclerosis and inflammatory markers in asymptomatic subjects with cardiovascular risk factors		600262		CDC	2006	In asymptomatic hypercholesterolemic subjects the C allele of -765G>C COX-2 polymorphism was associated with lower COX-2 expression, and reduced subclinical atherosclerosis and systemic inflammation compared with GG homozygous, thus conferring atherosclerosis protection in this cardiovascular risk population.											
152950		cerebrovascular ischemia	CARDIOVASCULAR	CARD	Brain Ischemia|Atrial Fibrillation|Atherosclerosis|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Colaizzo, D.  et al. 2006	16479190				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Blood Coagul Fibrinolysis    2006    17(2)    93-96	The COX-2 G/C -765 polymorphism may modulate the occurrence of cerebrovascular ischemia		600262		CDC	2006												
152951	Y	breast cancer	CANCER	CAN	Breast Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Langsenlehner, U.  et al. 2006	16489098	PTGS2 8473T>C			Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Clin Cancer Res    2006    12(4)    1392-1394	The Cyclooxygenase-2 (PTGS2) 8473T>C Polymorphism is Associated with Breast Cancer Risk		600262		CDC	2006												
152952	Y	colon cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Sansbury, L. B.  et al. 2006	16489533	PTGS2 COX2 Val511Ala			Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		United States|North Carolina	CDC GDP info	5743	Hs.196384			Cancer Causes Control    2006    17(3)    257-66	COX-2 Polymorphism, Use of Nonsteroidal Anti-Inflammatory Drugs, and Risk of Colon Cancer in African Americans (United States)		600262		CDC	2006	Our results suggest that the COX-2 Val511Ala SNP does not antagonize the effect of NSAIDs on colon cancer risk and provides support that NSAID use and the COX-2 Val511Ala SNP may contribute to a reduced risk of colon cancer among African Americans.		nonsteroidal anti-inflammatory (NSAID)									
152953		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Shahedi, K.  et al. 2006	16506214				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Sweden	CDC GDP info	5743	Hs.196384			Int J Cancer    2006	Genetic variation in the COX-2 gene and the association with prostate cancer risk		600262		CDC	2006												
152954		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179			16542464				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean		CDC GDP info	5743	Hs.196384			BMC Cancer    2006    6(1)    70	Relationship between cyclooxygenase 8473T>C polymorphism and risk of lung cancer		600262		CDC	2006	These findings suggest that the COX-2 8473T>C polymorphism could be used as a marker for the genetic susceptibility to adenocarcinoma of the lung.		smoking (tobacco)									
152955	Y	analgesic response	PHARMACOGENOMIC	PHARM	Pain, Postoperative	1	1q25.2-q25.3	PTGS2	184907591	184916179		Lee, Y. S.  et al. 2006	16678543				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Clin Pharmacol Ther    2006    79(5)    407-418	Genetically mediated interindividual variation in analgesic responses to cyclooxygenase inhibitory drugs		600262		CDC	2006	These results suggest that wide variability in gene expression and functional polymorphisms in PTGS2 may explain part of the interindividual variations in acute pain and the analgesic efficacy of nonsteroidal anti-inflammatory drugs and selective COX-2 inhibitors; this may be useful to define individual responders on the basis of genetic variations to predict patient risk and benefit to drugs.		ibuprofen rofecoxib									
152956		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Kranzhofer, R.  et al. 2006	16702043				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Platelets    2006    17(3)    163-9	Aspirin resistance in coronary artery disease is correlated to elevated markers for oxidative stress but not to the expression of cyclooxygenase (COX) 1/2, a novel COX-1 polymorphism or the PlA(1/2) polymorphism		600262		CDC	2006	AR appears to be unrelated to differences in platelet COX-1 and COX-2 expression or to a novel platelet COX-1 SNP and the PlA(1)/A(2) SNP. However, a correlation exists to elevated eicosanoids generated by oxidative stress indicating COX-1-independent pathways for the generation of platelet activating molecules represent a potential cause for AR.											
152957		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Zhang, X. M.  et al. 2006	16733888			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    119-23	Genetic polymorphisms in the promoter region of cyclooxygenase-2 and their association with risk of gastric cancer		600262		CDC	2006	Genetic polymorphisms in COX-2 promoter region may play a role in gastric carcinogenesis.											
152958	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Liu, F.  et al. 2006	16762620				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		China	CDC GDP info	5743	Hs.196384			Gastroenterology    2006    130(7)    1975-84	Genetic variants in cyclooxygenase-2		600262		CDC	2006	These findings suggest that COX-2 polymorphisms may play an important role, at least in part, in developing GC in this high-risk population.		Helicobacter pylori smoking (tobacco)									
152959		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	1	1q25.2-q25.3	PTGS2	184907591	184916179		Gunter, M. J.  et al. 2006	16775170				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		600262		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
152961		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Lee, K. H.  et al. 2006	16821264				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean	Korea	CDC GDP info	5743	Hs.196384			J Rheumatol    2006    33(7)    1231-1234	Cyclooxygenase-2 Genotype and Rheumatoid Arthritis		600262		CDC	2006	These results suggest that COX-2 genotyping might be useful in predicting the risk and severity of RA in individuals without the SE.											
152962	Y	sarcoidosis	IMMUNE	IMM	Pulmonary Fibrosis|Sarcoidosis, Pulmonary|Disease Progression|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Hill, M. R.  et al. 2006	16840740				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Am J Respir Crit Care Med    2006	Functional Prostaglandin-Endoperoxide Synthase 2 Polymorphism Predicts Poor Outcome in Sarcoidosis		600262		CDC	2006	Our data suggest that the -765G>C polymorphism identifies individuals who are susceptible to sarcoidosis and, more importantly, at risk of pulmonary fibrotic disease. An altered Sp1/Sp3 binding to the -765 region may contribute to the mechanism by which -765G>C reduces PTGS2 expression.											
152963		lupus erythematosus	IMMUNE	IMM		1	1q25.2-q25.3	PTGS2	184907591	184916179		Her, M. Y.  et al. 2006	16871410				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean		CDC GDP info	5743	Hs.196384			Rheumatol Int    2006	Cyclooxygenase-2 polymorphisms and risk of systemic lupus erythematosus in Koreans		600262		CDC	2006												
152964		myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Thrombosis	1	1q25.2-q25.3	PTGS2	184907591	184916179		Hegener, H. H.  et al. 2006	16879213				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Caucasian		CDC GDP info	5743	Hs.196384			J Thromb Haemost    2006    4(8)    1718-22	Polymorphisms of prostaglandin-endoperoxide synthase 2 gene, and prostaglandin-E receptor 2 gene, C-reactive protein concentrations and risk of atherothrombosis		600262		CDC	2006	Although these prospective data implicate the potential involvement of prostaglandin-E receptor-2 gene variation in atherothrombosis, external validation of our findings is needed.											
152965		neuro-cognitive outcome preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Birth Weight|Developmental Disabilities	1	1q25.2-q25.3	PTGS2	184907591	184916179		Harding, D.  et al. 2006	16905570				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Arch Dis Child Fetal Neonatal Ed    2006	Cognitive outcome and cyclooxygenase-2 Gene (-765 G/C) variation in the preterm		600262		CDC	2006	An antineuropathological role for COX2 in the preterm brain may help account for the lack of effect of indomethacin treatment in improving neurocognitive outcomes in children born preterm, despite reported reduction in apparent brain injury.											
152966		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Vogel, U.  et al. 2006	16959787				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Carcinogenesis    2006	Peroxisome profilerator-activated receptor{gamma}2 Pro12Ala, interaction with alcohol intake and NSAID use, in relation to risk of breast cancer in a prospective study of Danes		600262		CDC	2006			alcohol nonsteroidal anti-inflammatory (NSAID)									
152967		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Atrophy|Genetic Predisposition to Disease|Metaplasia	1	1q25.2-q25.3	PTGS2	184907591	184916179		Pereira, C.  et al. 2006	17006983				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Portuguese		CDC GDP info	5743	Hs.196384			World J Gastroenterol    2006    12(34)    5473-8	-765G > C COX-2 polymorphism may be a susceptibility marker for gastric adenocarcinoma in patients with atrophy or intestinal metaplasia		600262		CDC	2006	-765C carrier status should be considered as another susceptibility marker for gastric adenocarcinoma development in patients with atrophy or intestinal metaplasia.											
152968		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Gerger, A.  et al. 2006	17058024				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Breast Cancer Res Treat    2006	A multigenic approach to predict breast cancer risk		600262		CDC	2006												
152969	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Hedelin, M.  et al. 2006	17066444				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		Sweden	CDC GDP info	5743	Hs.196384			Int J Cancer    2006	Association of frequent consumption of fatty fish with prostate cancer risk is modified by COX-2 polymorphism		600262		CDC	2006			fish									
152971		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Hakansson, A.  et al. 2006	17171651				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Am J Med Genet B Neuropsychiatr Genet    2006	Cyclooxygenase-2 polymorphisms in Parkinson's disease		600262		CDC	2006	the results suggest a possible influence of the COX-2 C8473T SNP in PD, although it only seems to be of importance in men.											
152972	N	prostaglanding E2	PHARMACOGENOMIC	PHARM		1	1q25.2-q25.3	PTGS2	184907591	184916179		Skarke, C.  et al. 2006	17178263				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Clin Pharmacol Ther    2006    80(6)    621-32	The cyclooxygenase 2 genetic variant -765G>C does not modulate the effects of celecoxib on prostaglandin E2 production		600262		CDC	2006	The PTGS2 -765G>C single-nucleotide polymorphism does not modulate COX-2 inhibitory effects of celecoxib as assessed by an ex vivo whole blood assay. Thus the results indicate the need for further investigation toward PTGS2 pharmacogenetics-based prescription of celecoxib.		celecoxib									
152973		breast cancer	CANCER	CAN	Breast Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Shen, J.  et al. 2006	17181859				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Breast Cancer Res    2006    8(6)    R71	Genetic polymorphisms in the cyclooxygenase-2 gene, use of NSAIDs and breast cancer risk		600262		CDC	2006	These data provide modest evidence that the C allele of COX-2 .8473 may interact with NSAIDs to reduce risk for hormone receptor positive breast cancer.		aspirin nonsteroidal anti-inflammatory (NSAID)									
152974	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	1	1q25.2-q25.3	PTGS2	184907591	184916179		Park, B. L.  et al. 2006	17202846			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean		CDC GDP info	5743	Hs.196384			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		600262		CDC	2006												
152975	N	breast cancer	CANCER	CAN	Breast Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cox, D. G.  et al. 2007	17214885			3' untranslated region	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Caucasian		CDC GDP info	5743	Hs.196384			Breast Cancer Res    2007    9(1)    R3	A polymorphism in the 3' UTR of PTGS2 is not associated with an increase in breast cancer risk		600262		CDC	2007	Although this polymorphism may be associated with a decrease in breast cancer risk among Caucasian women, we provide strong evidence that it is not associated with an increased risk of breast cancer.											
152977	Y	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179	0.03, 0.44, 0.01	Vogel, U.  et al. 2007	17307204		A-1195G: destroy promoter binding site, G-765C destroy promoter binding site, T8473C stabilize mRNA	5'promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	middle aged Caucasian Danes	Denmark	CDC GDP info	5743	Hs.196384			Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs689466, rs20417, rs5275	600262		CDC	2007	Association of the polymorphism to risk of basal cell carcinoma, such that high COX-2 levels are associated with increased risk of basal cell carcinoma	study nested within the prospective Diet, Cancer and Health' study	nonsteroidal anti-inflammatory (NSAID)								no interaction with NSAID	
152978		heart disease, ischemic stroke	CARDIOVASCULAR	CARD		1	1q25.2-q25.3	PTGS2	184907591	184916179		Kohsaka, S.  et al. 2007	17350020				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Atherosclerosis    2007	Increased risk of incident stroke associated with the cyclooxygenase 2 (COX-2) G-765C polymorphism in African-Americans		600262		CDC	2007	We have found the COX-2 G-765C polymorphism to be a risk factor for incident stroke in African-Americans. This study provides additional evidence for utilizing inflammation-related genetic polymorphisms for identifying individuals at increased risk for stroke.											
152980		laryngeal cancer pharyngeal cancer	CANCER	CAN	Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms|Inflammation	1	1q25.2-q25.3	PTGS2	184907591	184916179		Campa, D.  et al. 2007	17356794				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Cancer Causes Control    2007    18(4)    449-55	Association of common polymorphisms in inflammatory genes with risk of developing cancers of the upper aerodigestive tract		600262		CDC	2007	To our knowledge, this is the first report on the role of these polymorphisms with respect to UADT carcinogenesis.											
152981		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Mazzola, S.  et al. 2007	17373929			promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Int J Immunogenet    2007    34(2)    71-4	COX-2 promoter region polymorphisms in multiple sclerosis		600262		CDC	2007												
152982	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Lee, T. S.  et al. 2007	17404026				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Korean		CDC GDP info	5743	Hs.196384			Ann N Y Acad Sci    2007    1095    134-42	Lack of association of the cyclooxygenase-2 and inducible nitric oxide synthase gene polymorphism with risk of cervical cancer in korean population		600262		CDC	2007												
152983		esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Guo, Y.  et al. 2007	17460548				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Pharmacogenet Genomics    2007    17(3)    197-205	Platelet 12-lipoxygenase Arg261Gln polymorphism		600262		CDC	2007	These observations suggest that inherited polymorphisms in arachidonic acid-metabolizing enzymes, which result in heightened gene expression or enzymatic activity, may confer host susceptibility to ESCC.											
152985		heart disease, ischemic stroke	CARDIOVASCULAR	CARD	Coronary Disease|Atherosclerosis|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Lee, C. R.  et al. 2007	17495879				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	African American;Caucasian		CDC GDP info	5743	Hs.196384			Clin Pharmacol Ther    2007	Cyclooxygenase Polymorphisms and Risk of Cardiovascular Events		600262		CDC	2007			aspirin									
152986		asthma atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	1	1q25.2-q25.3	PTGS2	184907591	184916179		Chan, I. H.  et al. 2007	17573729				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Allergy    2007    62(7)    802-9	Association of prostaglandin-endoperoxide synthase 2 gene polymorphisms with asthma and atopy in Chinese children		600262		CDC	2007	PTGS2.											
152987	Y	skin cancer, non-melanoma	CANCER	CAN	Skin Neoplasms	1	1q25.2-q25.3	PTGS2	184907591	184916179		Gomez Lira, M.  et al. 2007	17578436	-765G-->C and -1195A-->G			Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	Italian		CDC GDP info	5743	Hs.196384			Br J Dermatol    2007    157(1)    49-57	Association of functional gene variants in the regulatory regions of COX-2 gene (PTGS2) with nonmelanoma skin cancer after organ transplantation		600262		CDC	2007	COX-2 common variants -765G-->C and -1195A-->G appear to be associated with risk of NMSC, although in different ways in the SCC and BCC subgroups, indicating that environmental and genetic risk factors may play different roles in the outcome leading to these two phenotypes.											
152988		esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus|Esophagitis, Peptic|Disease Progression|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Moons, L. M.  et al. 2007	17581270				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Am J Gastroenterol    2007	COX-2 CA-Haplotype Is a Risk Factor for the Development of Esophageal Adenocarcinoma		600262		CDC	2007	The COX-2 CA-haplotype is more frequently observed in patients with EAC than in patients with BE and reflux esophagitis. These data suggest a direct link between COX-2 activity and neoplastic progression in patients with BE and reflux esophagitis.											
152989	Y	placental malperfusion pregnancy complications	REPRODUCTION	REP	Pregnancy Complications|Fetal Growth Retardation|Placenta Diseases	1	1q25.2-q25.3	PTGS2	184907591	184916179		Polydorides, A. D.  et al. 2007	17581413				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Int J Gynecol Pathol    2007    26(3)    284-90	A fetal cyclooxygenase-2 gene polymorphism is associated with placental malperfusion		600262		CDC	2007												
152990		prostate cancer	PHARMACOGENOMIC	PHARM	Prostatic Neoplasms|Disease Progression|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Cheng, I.  et al. 2007	17609663				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Br J Cancer    2007	COX2 genetic variation, NSAIDs, and advanced prostate cancer risk		600262		CDC	2007			nonsteroidal anti-inflammatory (NSAID)									
152991		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	11	11p15.3-p15.1	PTH	13470176	13474143			16412323				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDP info	5741	Hs.37045			Zhonghua Fu Chan Ke Za Zhi    2005    40(12)    803-7	Study of the impact of candidate genes on bone mineral density in postmenopausal women.		168450		CDC	2005	There is some association between osteoprotegerin, parathyroid hormone genes and BMD in postmenopausal women.											
152993		bone density calcium phosphorus	METABOLIC	MET	Vitamin D Deficiency	11	11p15.3-p15.1	PTH	13470176	13474143		Rao Vupputuri, M.  et al. 2006	16762954				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2	Indian;Asian	India	CDC GDP info	5741	Hs.37045			Am J Clin Nutr    2006    83(6)    1411-9	Prevalence and functional significance of 25-hydroxyvitamin D deficiency and vitamin D receptor gene polymorphisms in Asian Indians		168450		CDC	2006	Functionally significant 25(OH)D deficiency affecting BMD at the hip region is prevalent in urban Asian Indians.											
152994	Y	bone density height	METABOLIC	MET		3	3p22-p21.1	PTHR1	46894239	46920293		Scillitani, A.  et al. 2006	16508749			promoter	Parathyroid hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000316.2	Caucasian		CDC GDP info	5745	Hs.1019			Hum Genet    2006	A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women		168468		CDC	2006	our data show that subjects bearing one or two (AAAG)(6) alleles are taller than subjects without, reinforcing the notion that in vivo variation in promoter activity of the PTHR1 gene may be a relevant genetic influence on final adult height and BMD.											
152995		leukemia, lymphoid	CANCER	CAN	Burkitt Lymphoma|Leukemia, B-cell, Acute|Leukemia, Lymphocytic, Acute, L1|Noonan Syndrome|Down Syndrome	12	12q24	PTPN11	111340918	111432100			16533526				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDP info	5781	Hs.506852			Leuk Res    2006	PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia		176876		CDC	2006												
152996		Noonan syndrome Noonan-like syndrome	DEVELOPMENTAL	DEV	Neurofibromatoses|LEOPARD Syndrome|Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Bertola, D. R.  et al. 2006	17020470				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3	Brazilian		CDC GDP info	5781	Hs.506852			Genet Test    2006    10(3)    186-91	PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype		176876		CDC	2006												
152998	Y	gastric atrophy	OTHER	OTH	Helicobacter Infections|Gastritis, Atrophic|Genetic Predisposition to Disease	12	12q24	PTPN11	111340918	111432100		Kawai, S.  et al. 2006	17235629	PTPN11  A/A genotype			Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3	Japanese;Brazilian;Caucasian		CDC GDP info	5781	Hs.506852			Gastric Cancer    2006    9(4)    277-83	Significant association between PTPN11 polymorphism and gastric atrophy among Japanese Brazilians		176876		CDC	2006	The present study reproduced the significant association between the A/A genotype and reduced risk of gastric atrophy among Japanese outside Japan. According to the Japan Single Nucleotide Polymorphisms (JSNP) database (db)SNP data, the G allele is very frequent among Japanese and rare in Caucasians. This fact may partly explain the distribution of gastric atrophy/cancer in the world.											
152999	Y	Noonan syndrome	DEVELOPMENTAL	DEV	Noonan Syndrome	12	12q24	PTPN11	111340918	111432100		Hung, C. S.  et al. 2007	17339163				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDP info	5781	Hs.506852			J Formos Med Assoc    2007    106(2)    169-72	Mutational Analysis of PTPN11 Gene in Taiwanese Children with Noonan Syndrome		176876		CDC	2007	this study provides further support that PTPN11 mutations are responsible for Noonan syndrome in Taiwanese patients.											
153000	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Noonan Syndrome|Heart Defects, Congenital|Heart Septal Defects, Atrial|Pulmonary Valve Stenosis	12	12q24	PTPN11	111340918	111432100		Sznajer, Y.  et al. 2007	17515436				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDP info	5781	Hs.506852			Pediatrics    2007	The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene		176876		CDC	2007	We compared our data with previous series and integrated the comprehension of molecular PTPN11 gene dysfunction in heart development.											
153001		Noonan syndrome	DEVELOPMENTAL	DEV		12	12q24	PTPN11	111340918	111432100		Ferreira, L. V.  et al. 2007	17546245				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDP info	5781	Hs.506852			Arq Bras Endocrinol Metabol    2007    51(3)    450-6	Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation.		176876		CDC	2007	We identified missense mutations in 48.											
153003	Y	diabetes, type 2 glucose insulin obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Cheyssac, C.  et al. 2006	16677372				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	French		CDC GDP info	5770	Hs.417549			BMC Med Genet    2006    7(1)    44	Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population		176885		CDC	2006	In our study, PTPN1 variants showed moderate association with T2D and obesity.											
153004	N	diabetes, type 2 obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Traurig, M.  et al. 2007	17333110				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Hispanic ;Indian;Pima Indians		CDC GDP info	5770	Hs.417549			Diabetologia    2007	Protein tyrosine phosphatase 1B is not a major susceptibility gene for type 2 diabetes mellitus or obesity among Pima Indians		176885		CDC	2007	SNPs within PTPN1 are unlikely to have a major role in the aetiology of type 2 diabetes or obesity in Pima Indians.											
153005	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Wanic, K.  et al. 2007	17403124				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Polish		CDC GDP info	5770	Hs.417549			Diabet Med    2007	Lack of association between polymorphisms in the gene encoding protein tyrosine phosphatase 1B (PTPN1) and risk of Type 2 diabetes		176885		CDC	2007	This case-control study in a Polish population did not confirm the reported association between polymorphisms in PTPN1 and T2DM.											
153006	Y	anthropometric parameters diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Metabolic Syndrome X|Obesity|Genetic Predisposition to Disease	20	20q13.1-q13.2	PTPN1	48560297	48634493		Meshkani, R.  et al. 2007	17560463	PTPN1   1484insG genotype			Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Iranian;Italian		CDC GDP info	5770	Hs.417549			Arch Med Res    2007    38(5)    556-562	1484insG Polymorphism of the PTPN1 Gene Is Associated with Insulin Resistance in an Iranian Population		176885		CDC	2007	Our results from a sample of Iranian type 2 diabetes cases and controls provide evidence that the 1484insG genotype of the PTPN1 gene may be associated with insulin resistance and other cardiovascular risk factors in non-diabetic male subjects.											
153007	Y	Graves ophthalmology Graves' disease	VISION	VIS		7	7q11.23	PTPN12	77004770	77107322		Syed, A. A.  et al. 2007	17608818				Protein tyrosine phosphatase, non-receptor type 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050008	Caucasian		CDC GDP info	5782	Hs.61812			Clin Endocrinol (Oxf)    2007	Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy		600079		CDC	2007	s No association was detected between individual PTPN12 tag SNPs and GD but preliminary evidence suggests PTPN12 confers an increased risk of mild/moderate ophthalmopathy (NOSPECS classes 2-4) and that PTPN12 interacts with the TSHR. Replication of these preliminary results is now required in larger independent datasets to validate these findings.											
153008	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	14	14q31.3	PTPN21	88003867	88090876		Zeitlin, A. A.  et al. 2006	16918960				Protein tyrosine phosphatase, non-receptor type 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007039	Caucasian		CDC GDP info	11099	Hs.437040			Clin Endocrinol (Oxf)    2006    65(3)    380-4	Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21				CDC	2006	Using a Tag SNP approach we screened PTPN21 as a susceptibility locus for GD and found no evidence for association with disease.											
153009	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	18	18p11.3-p11.2	PTPN2	12775479	12874334		Parkes, M.  et al. 2007	17554261				Protein tyrosine phosphatase, non-receptor type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209569			CDC GDP info	5771	Hs.654527			Nat Genet    2007	Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility		176887		CDC	2007												
153010		psoriasis vulgaris	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Huffmeier, U.  et al. 2006	16339849				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	German		CDC GDP info	26191	Hs.535276			J Med Genet    2006    43(6)    517-22	Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients		600716		CDC	2006												
153012	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Wipff, J.  et al. 2006	16464986				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian;French		CDC GDP info	26191	Hs.535276			Ann Rheum Dis    2006	Lack of association between the protein tyrosine phosphatase non receptor 22 (PTPN22) - 620W Allele and systemic sclerosis in the French Caucasian population		600716		CDC	2006												
153014	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Harrison, P.  et al. 2006	16490755				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian		CDC GDP info	26191	Hs.535276			Rheumatology (Oxford)    2006	Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients		600716		CDC	2006	We confirmed the previously reported association of PTPN22 with RF-positive RA, which was independent from the HLA-DRB1 genotype.											
153015		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Johansson, M.  et al. 2005	16507117				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Arthritis Res Ther    2005    8(1)    R19	PTPN22 polymorphism and anti-cyclic citrullinated peptide antibodies in combination strongly predicts future onset of rheumatoid arthritis and has a specificity of 100% for the disease		600716		CDC	2005												
153016	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Butt, C.  et al. 2006	16507123				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian		CDC GDP info	26191	Hs.535276			Arthritis Res Ther    2006    8(1)    R27	Association of functional variants of PTPN22 and tp53 in psoriatic arthritis		600716		CDC	2006												
153018	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p13.3-p13.1	PTPN22	114157960	114215857		Pierer, M.  et al. 2006	16635271				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	German		CDC GDP info	26191	Hs.535276			Arthritis Res Ther    2006    8(3)    R75	Association of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort		600716		CDC	2006												
153019	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Fedetz, M.  et al. 2006	16671953				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian	Ukraine	CDC GDP info	26191	Hs.535276			Tissue Antigens    2006    67(5)    430-3	The 1858T PTPN22 gene variant contributes to a genetic risk of type 1 diabetes in a Ukrainian population		600716		CDC	2006												
153020	N	cirrhosis, biliary primary	IMMUNE	IMM	Liver Cirrhosis, Biliary|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857		Milkiewicz, P.  et al. 2006	16671954	PTPN22 1858T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Canadian;Caucasian	Canada	CDC GDP info	26191	Hs.535276			Tissue Antigens    2006    67(5)    434-7	The PTPN22 1858T variant is not associated with primary biliary cirrhosis		600716		CDC	2006			autoimmune disorder									
153021		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Gomez, L. M.  et al. 2005	16690411				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Hum Immunol    2005    66(12)    1242-7	Genetic Influence of PTPN22 R620W Polymorphism in Tuberculosis		600716		CDC	2005												
153022	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Ikari, K.  et al. 2006	16690758				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese;European;Asian		CDC GDP info	26191	Hs.535276			Rheumatology (Oxford)    2006	Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population		600716		CDC	2006	We found no association between PTPN22 and RA in a Japanese population.											
153024		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Harbo, H. F.  et al. 2006	16764945				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Norwegian		CDC GDP info	26191	Hs.535276			J Neuroimmunol    2006    177(1-2)    40-5	Coding region polymorphisms in T cell signal transduction genes. Prevalence and association to development of multiple sclerosis		600716		CDC	2006												
153025	Y	alopecia areata	IMMUNE	IMM	Alopecia Areata|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kemp, E. H.  et al. 2006	16829308	PTPN22  C1858T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Hum Immunol    2006    67(7)    535-9	The Non-Synonymous C1858T Substitution in the PTPN22 Gene is Associated with Susceptibility to the Severe Forms of Alopecia Areata		600716		CDC	2006												
153026	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kaufman, K. M.  et al. 2006	16868974				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	European	Oklahoma	CDC GDP info	26191	Hs.535276			Arthritis Rheum    2006    54(8)    2533-2540	Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus		600716		CDC	2006	The 1858T allele of PTPN22 is associated with familial SLE but not with sporadic SLE in European Americans, thereby potentially explaining previous contradictory reports.											
153028		hypoparathyroidism	METABOLIC	MET	Hypoparathyroidism|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857		Ray, D.  et al. 2006	16893384				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Indian;Asian		CDC GDP info	26191	Hs.535276			Int J Immunogenet    2006    33(4)    237-40	Protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene R620W variant and sporadic idiopathic hypoparathyroidism in Asian Indians		600716		CDC	2006												
153030	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Onengut-Gumuscu, S.  et al. 2006	17003357	1858C/T			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Diabetes    2006    55(10)    2883-9	A Haplotype-Based Analysis of the PTPN22 Locus in Type 1 Diabetes		600716		CDC	2006	 that the 1858C/T allele is the major risk variant for type 1 diabetes in the PTPN22 locus, but they suggest that additional infrequent coding variants at PTPN22 may also contribute to type 1 diabetes risk.											
153031	N	aplastic anemia, acquired	IMMUNE	IMM	Anemia, Aplastic|Autoimmune Diseases	1	1p13.3-p13.1	PTPN22	114157960	114215857		Graf, S. A.  et al. 2006	17034023				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Am J Hematol    2006	PTPN22 620W allele is not associated with aplastic anemia		600716		CDC	2006												
153032	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Steck, A. K.  et al. 2006	17054449				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	non-Hispanic		CDC GDP info	26191	Hs.535276			Pediatr Diabetes    2006    7(5)    274-278	Association of the PTPN22/LYP gene with type 1 diabetes		600716		CDC	2006	In this study, we confirm that PTPN22 is associated with T1D in the Colorado population.											
153033		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Baca, V.  et al. 2006	17066073				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Mexican		CDC GDP info	26191	Hs.535276			Genes Immun    2006	Association analysis of the PTPN22 gene in childhood-onset systemic lupus erythematosus in Mexican population		600716		CDC	2006												
153034		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	1	1p13.3-p13.1	PTPN22	114157960	114215857		Balada, E.  et al. 2006	17092257				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3		Spain	CDC GDP info	26191	Hs.535276			Tissue Antigens    2006    68(5)    432-8	Multiplex family-based study in systemic lupus erythematosus		600716		CDC	2006												
153036	Y	rheumatoid arthritis thyroid disease, autoimmune	IMMUNE	IMM	Arthritis, Rheumatoid|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Newman, W. G.  et al. 2006	17133579				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese;Canadian;Caucasian		CDC GDP info	26191	Hs.535276			Arthritis Rheum    2006    54(12)    3820-3827	Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population		600716		CDC	2006	Our findings support an association of RA with an FCRL3 functional polymorphism and reveal that this association is stronger in the absence of PTPN22 risk genotypes.											
153037	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Gourh, P.  et al. 2006	17133608				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Indian		CDC GDP info	26191	Hs.535276			Arthritis Rheum    2006    54(12)    3945-3953	Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-positive systemic sclerosis		600716		CDC	2006	Our results indicate that the PTPN22 R620W polymorphism is associated with ACA-positive and anti-topo I antibody-positive subsets of SSc and represents a risk factor in both white patients and black patients. The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune di											
153038	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Wesoly, J.  et al. 2006	17135225				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Rheumatology (Oxford)    2006	The 620W allele is the PTPN22 genetic variant conferring susceptibility to RA in a Dutch population		600716		CDC	2006	C1858T is the sole PTPN22 variant predisposing to RA in our white Dutch sample set.											
153039	Y	Graves' disease	IMMUNE	IMM	Arthritis, Rheumatoid|Graves Disease|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Heward, J.  et al. 2006	17148556				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			J Clin Endocrinol Metab    2006	Association of PTPN22 haplotypes with Graves' disease		600716		CDC	2006	These data suggest that the association of SNPs within the PTPN22 region differs between autoimmune diseases, occurring individually and/or as part of a haplotype, indicating that the mechanisms by which PTPN22 confers susceptibility to GD may, in part, be disease specific.											
153040		lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Garnier, S.  et al. 2006	17158136				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian;French		CDC GDP info	26191	Hs.535276			Ann Rheum Dis    2006	The systemic lupus erythematosus new genetic factor IRF5 rs2004640-T allele is not linked to, nor associated with rheumatoid arthritis, in a family-based study from the French caucasian population		600716		CDC	2006	Our results exclude the IRF5 rs2004640-T allele as a major genetic factor for RA in this French Caucasian population.											
153041		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Steer, S.  et al. 2007	17159887				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	New Zealand		CDC GDP info	26191	Hs.535276			Genes Immun    2007    8(1)    57-68	Genomic DNA pooling for whole-genome association scans in complex disease		600716		CDC	2007												
153043	Y	diabetes, type 2 rheumatoid arthritis	METABOLIC	MET	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Michou, L.  et al. 2007	17237219				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian;EuropeanFrench		CDC GDP info	26191	Hs.535276			Proc Natl Acad Sci U S A    2007	Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene		600716		CDC	2007	"we provided the linkage proof for the PTPN22-1858T allele and RF+ RA. With diabetes and RA, PTPN22 is therefore a ""linkage-proven"" autoimmunity gene. PTPN22 accounting for approximately 1% of the RA familial aggregation, many new genes could be expected that are as many leads to definitive therapy for autoimmune diseases."											
153044	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Chelala, C.  et al. 2007	17259401				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Diabetes    2007    56(2)    522-6	PTPN22 R620W Functional Variant in Type 1 Diabetes and Autoimmunity Related Traits		600716		CDC	2007												
153045		diabetes, type 1 thyroid autoimmunity	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Howson, J. M.  et al. 2007	17334650				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Diabetologia    2007    50(4)    741-746	A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene	rs3087243	600716		CDC	2007	 Our results identify a subgroup of type 1 diabetic patients that is sensitive to allelic variation of the negative regulatory molecule CTLA-4 and indicate that TPOAbs testing could be used to subclassify type 1 diabetes patients for inclusion in genetic, biological or clinical studies.											
153046		rheumatoid arthritis	IMMUNE	IMM	Arthritis|Arthritis, Rheumatoid|Disease Progression	1	1p13.3-p13.1	PTPN22	114157960	114215857		Feitsma, A. L.  et al. 2007	17341507				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Rheumatology (Oxford)    2007	Risk of progression from undifferentiated arthritis to rheumatoid arthritis		600716		CDC	2007												
153048		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	lyp	114157960	114215857		Ikegami, H.  et al. 2007	17452059				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese;Caucasian;Korean;Asian		CDC GDP info	26191	Hs.535276			Diabetes Res Clin Pract    2007	Genetics of type 1 diabetes in Asian and Caucasian populations		600716		CDC	2007												
153049	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	1	1p13.3-p13.1	PTPN22	114157960	114215857		Lie, B. A.  et al. 2007	17472988				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Norwegian		CDC GDP info	26191	Hs.535276			Ann Rheum Dis    2007	Associations between the PTPN22 1858C>T polymorphism and radiographic joint destruction in patients with rheumatoid arthritis		600716		CDC	2007	An association between the PTPN22 risk variant and increased progression rate for structural damage was observed.											
153050		cardiomyopathy Trypanosoma cruzi	CARDIOVASCULAR	CARD	Chagas Cardiomyopathy	1	1p13.3-p13.1	PTPN22	114157960	114215857		Robledo, G.  et al. 2007	17493151				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Peruvian		CDC GDP info	26191	Hs.535276			Tissue Antigens    2007    69(3)    261-4	Association study of PTPN22 C1858T polymorphism in Trypanosoma cruzi infection		600716		CDC	2007												
153051		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kokkonen, H.  et al. 2007	17553139				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Arthritis Res Ther    2007    9(3)    R56	The PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated peptide antibody positive early rheumatoid arthritis in northern Sweden		600716		CDC	2007	Both the 1858T allele and the carriage of T were associated with RA (chi2 = 23.84, P = 0.000001, odds ratio = 1.69, 95% confidence interval = 1.36-2.11; and chi2 = 22.68, P = 0.000002, odds ratio = 1.79, 95% confidence interval = 1.40-2.29, respectively). Association of the 1858T variant with RA was confined to seropositive disease. Carriage of 1858T and the											
153052	Y	asthma rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Asthma	1	1p13.3-p13.1	PTPN22	114157960	114215857		Majorczyk, E.  et al. 2007	17579671				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	European;Polish		CDC GDP info	26191	Hs.535276			Eur J Hum Genet    2007	Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma		600716		CDC	2007	we confirmed associations between several clinical manifestations of RA and PTPN22 1858T allele.											
153054		HIV	INFECTION	INF		1	1q31-q32	PTPRC	196874759	196993168		Trecarichi, E. M.  et al. 2006	16999868				Protein tyrosine phosphatase, receptor type, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002838	Italian		CDC GDP info	5788	Hs.192039			AIDS Res Ther    2006    3(1)    22	Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian HIV-1 exposed uninfected individuals		151460		CDC	2006	our data show a significantly higher frequency of CCR5-Delta 32 heterozygous genotype (p = 0.04) among the Italian heterosexual ESN individuals compared to HIV-1 seropositive patients, suggesting a partial protective role of CCR5-Delta 32 heterozygosity in this cohort.											
153055		breast cancer colorectal cancer leukemia liver cancer lung cancer stomach cancer	CANCER	CAN	Carcinoma	20	20q12-q13	PTPRT	40134805	41251971		Lee, J. W.  et al. 2007	17223850				Protein tyrosine phosphatase, receptor type, T	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133170			CDC GDP info	11122	Hs.526879			APMIS    2007    115(1)    47-51	Mutational analysis of PTPRT phosphatase domains in common human cancers				CDC	2007												
153056		schizophrenia	PSYCH	PSY		7	7q31.3	PTPRZ1	121300394	121489326		Buxbaum, J. D.  et al. 2007	17579610				Protein tyrosine phosphatase, receptor-type, Z polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002851.2	Caucasian		CDC GDP info	5803	Hs.489824			Mol Psychiatry    2007	Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene		176891		CDC	2007												
153057		tetrahydrobiopterin metabolic disorders	METABOLIC	MET		11	11q22.3-q23.3	PTS	111602308	111609903		Ye, J.  et al. 2007	17407085				6-pyruvoyltetrahydropterin synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000317.1			CDC GDP info	5805	Hs.503860			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    210-2	Screening for tetrahydrobiopterin metabolic disorders and relatedgene analysis among the patients with motor disturbance and mental retardation.		261640		CDC	2007	Some patients with unknown motor disturbance and mental retardation may suffer from BH4 metabolism related diseases.											
153058		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	5	5q35.1	PTTG1	159781442	159788324		Lo, Y. L.  et al. 2007	17210994				Pituitary tumor-transforming 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BE904476			CDC GDP info	9232	Hs.350966			Carcinogenesis    2007	Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes		604147		CDC	2007												
153059		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	3	3q25	PTX3	158637300	158644071		Olesen, R.  et al. 2007	17611589				Pentraxin-related gene, rapidly induced by IL-1 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002852			CDC GDP info	5806	Hs.591286			Genes Immun    2007	DC-SIGN (CD209), pentraxin 3 and vitamin D receptor gene variants associate with pulmonary tuberculosis risk in West Africans		602492		CDC	2007												
153060		azoospermia	REPRODUCTION	REP	Infertility, Male	2	2p22-p21	PUM2	20311933	20413944		Kusz, K.  et al. 2006	17154300				Pumilio homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF315591			CDC GDP info	23369	Hs.467824			Mol Reprod Dev    2006	Polymorphisms of the human PUMILIO2 gene and male sterility		607205		CDC	2006												
153062		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	11	11q23	PVRL1	119014017	119104645		Avila, J. R.  et al. 2006	17089422				Hypothetical protein MGC16207	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002855.4	Danish		CDC GDP info	5818	Hs.334846			Am J Med Genet A    2006	PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations		600644		CDC	2006												
153063	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	19	19q13.2-q13.4	PVRL2	50041232	50084325		Schmidt, S.  et al. 2006	16738668				Poliovirus receptor-related 2 (herpesvirus entry mediator B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR600069	Caucasian	United States|Great Britain	CDC GDP info	5819	Hs.326371			Genes Immun    2006	Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis		600798		CDC	2006	the analysis of a very large data set suggests that genetic polymorphisms in PVRL2 may influence MS severity and supports the possibility that viral factors may contribute to the clinical course of MS, consistent with previous reports.											
153064	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Progression	19	19q13.2-q13.4	PVRL2	50041232	50084325		Ramagopalan, S. V.  et al. 2007	17376543				Poliovirus receptor-related 2 (herpesvirus entry mediator B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR600069			CDC GDP info	5819	Hs.326371			J Neuroimmunol    2007	No effect of APOE and PVRL2 on the clinical outcome of multiple sclerosis		600798		CDC	2007	APOE and PVRL2 have little or no effect on the clinical outcome of MS.											
153065		diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2	8		PVT1	129160415	129160812		Hanson, R. L.  et al. 2007	17395743				Pvt1 oncogene homolog, MYC activator (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	5820	Hs.133107			Diabetes    2007    56(4)    975-83	Identification of PVT1 as a Candidate Gene for End-Stage Renal Disease in Type 2 Diabetes Using a Pooling-Based Genome-Wide Single Nucleotide Polymorphism Association Study		165140		CDC	2007												
153066		myopathy, drug-induced	METABOLIC	MET	Muscular Diseases|Glycogen Storage Disease Type V	11	11q12-q13.2	PYGM	64270605	64284763		Vladutiu, G. D.  et al. 2006	16671104				Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005609.1			CDC GDP info	5837	Hs.154084			Muscle Nerve    2006	Genetic risk factors associated with lipid-lowering drug-induced myopathies		608455		CDC	2006												
153067	Y	obesity	METABOLIC	MET	Obesity	17	17q21.1	PYY	39385632	39437363		Siddiq, A.  et al. 2007	17235527				Peptide YY	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004160.3			CDC GDP info	5697	Hs.169249			Diabetologia    2007	Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects		600781		CDC	2007	 These results provide evidence of association for NPY2R and PYY gene variants with obesity and none for PPY variants. A rare variant of the NPY2R gene showed evidence of co-segregation with obesity and its contribution to obesity should be investigated further.											
153070	N	mental retardation	DEVELOPMENTAL	DEV	Mental Retardation|Genetic Predisposition to Disease	19	19p13.2	RAB3A	18168610	18175839		Sun, Y.  et al. 2006	16584842				RAB3A, member RAS oncogene family	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002866		China	CDC GDP info	5864	Hs.27744			Neurosci Lett    2006	Variants in the RAB3A gene are not associated with mental retardation in the Chinese population		179490		CDC	2006	we have found no evidence for RAB3A conferring susceptibility on mental retardation in the Han Chinese population.											
153071		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	9	9q31.2	RAD23B	109085364	109134291		Mechanic, L. E.  et al. 2006	16399771				RAD23 homolog B (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002874.3			CDC GDP info	5887	Hs.521640			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		600062		CDC	2006			smoking (tobacco)									
153072	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	9	9q31.2	RAD23B	109085364	109134291		Huang, W. Y.  et al. 2006	16492920				RAD23 homolog B (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002874.3			CDC GDP info	5887	Hs.521640			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		600062		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
153073		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	9	9q31.2	RAD23B	109085364	109134291			16537713				RAD23 homolog B (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002874.3		Spain	CDC GDP info	5887	Hs.521640			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		600062		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
153074		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	5	5q31	RAD50	131919609	132007494			16385572				RAD50 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U63139	Finnish		CDC GDP info	10111	Hs.655835			Int J Cancer    2005	Evaluation of RAD50 in familial breast cancer predisposition		604040		CDC	2005												
153075		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	5	5q31	RAD50	131919609	132007494		Rollinson, S.  et al. 2006	17169801				RAD50 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U63139			CDC GDP info	10111	Hs.655835			Leuk Lymphoma    2006    47(12)    2567-83	Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma		604040		CDC	2006												
153077		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q15.1	RAD51	38774660	38811646		Romanowicz-Makowska, H.  et al. 2005	16477874			5' untranslated region	RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Pol J Pathol    2005    56(4)    161-5	Germline BRCA1 mutations and G/C polymorphism in the 5'-untranslated region of the RAD51 gene in Polish women with breast cancer		179617		CDC	2005												
153078		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q15.1	RAD51	38774660	38811646		Gal, I.  et al. 2006	16624550				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2	Ashkenazi;Jewish		CDC GDP info	5888	Hs.631709			Eur J Cancer    2006	A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women		179617		CDC	2006												
153080		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Chang, T. W.  et al. 2006	16713266				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		179617		CDC	2006												
153081	N	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q15.1	RAD51	38774660	38811646		Romanowicz-Makowska, H.  et al. 2006	16837909				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Exp Oncol    2006    28(2)    156-9	Analysis of RAD51 polymorphism and BRCA1 mutations in polish women with breast cancer		179617		CDC	2006	Our study implies that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and=or progression of breast cancer.											
153082		stomach cancer	CANCER	CAN	Stomach Neoplasms|DNA Damage|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Poplawski, T.  et al. 2006	16843501				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Mutat Res    2006	DNA damage and repair in gastric cancer-A correlation with the hOGG1 and RAD51 genes polymorphisms		179617		CDC	2006												
153083		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	15	15q15.1	RAD51	38774660	38811646		Rollinson, S.  et al. 2006	16890287				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Leuk Res    2006	RAD51 homologous recombination repair gene haplotypes and risk of acute myeloid leukaemia		179617		CDC	2006												
153085	N	breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Romanowicz-Makowska, H.  et al. 2006	17007294				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Pol Merkuriusz Lek    2006    21(121)    55-8	The G/C polymorphism of RAD51 gene in breast cancer		179617		CDC	2006	Our study implies that it is possible that the G/C polymorphism of the RAD51 gene may not be directly involved in the development and/or progression of breast cancer but further researches, conducted on larger population, are needed to clarify this point.											
153087		cytogenetic studies	OTHER	OTH		15	15q15.1	RAD51	38774660	38811646		Laczmanska, I.  et al. 2006	17078101				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		179617		CDC	2006												
153088	Y	head and neck cancer mutagen sensitivity	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Lu, J.  et al. 2006	17118968			5' untranslated region	RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2	non-Hispanic		CDC GDP info	5888	Hs.631709			Carcinogenesis    2006	172G>T variant in the 5' untranslated region of DNA repair gene RAD51 reduces risk of squamous cell carcinoma of the head and neck and interacts with a P53 codon 72 variant		179617		CDC	2006			radiation									
153090	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Damaraju, S.  et al. 2006	16638864				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2			CDC GDP info	5893	Hs.642610			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		600392		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
153091		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	12	12p13-p12.2	RAD52	891515	969480		Manuguerra, M. et al  et al. 2006	16956909				RAD52 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_134424.2			CDC GDP info	5893	Hs.642610			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		600392		CDC	2006												
153092		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	1	1p32	RAD54L	46486003	46516732			16520463				RAD54-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003579.2			CDC GDP info	8438	Hs.523220			J Clin Oncol    2006	Single Nucleotide Polymorphisms of RecQ1, RAD54L and ATM Genes Are Associated With Reduced Survival of Pancreatic Cancer		603615		CDC	2006	These observations support the hypothesis that polymorphic variants of DNA repair genes affect clinical prognosis of patients with pancreatic cancer.		gemcitabine radiation									
153093		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	1	1p32	RAD54L	46486003	46516732			16540687				RAD54-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003579.2			CDC GDP info	8438	Hs.523220			Cancer Res    2006    66(6)    3323-30	Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival		603615		CDC	2006												
153094		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11		RAG1	36493589	36571282		Wu, X.  et al. 2006	16465622				Recombination activating gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000448.1			CDC GDP info	5896	Hs.73958			Am J Hum Genet    2006    78(3)    464-79	Bladder Cancer Predisposition		179615		CDC	2006			smoking (tobacco)									
153095		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	11		RAG1	36493589	36571282		Hill, D. A.  et al. 2006	16857995				Recombination activating gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000448.1			CDC GDP info	5896	Hs.73958			Blood    2006	Risk of Non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes		179615		CDC	2006												
153096		diabetes, type 2 retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Ramprasad, S.  et al. 2006	16440015			promoter	Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1		India	CDC GDP info	5891	Hs.104119			Eye    2006	Rage gene promoter polymorphisms and diabetic retinopathy in a clinic-based population from South India		605762		CDC	2006	In this study, we found a modest association with the -374T/A polymorphism in the nonproliferative DR subgroup.											
153097		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		De Silvestri, A.  et al. 2006	16788244				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDP info	5891	Hs.104119			Dis Markers    2006    22(3)    111-7	Non classical HLA genes and non-HLA genes in a population of infants at familial risk of atopy		605762		CDC	2006	Our study confirms that HLA class III region seems involved in familial predisposition to atopy, and C4B gene probably acts as a marker of a more restricted subregion.											
153098	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis	14	14q32	RAGE	101760589	101841284		Shim, C. Y.  et al. 2006	16954682				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Korean		CDC GDP info	5891	Hs.104119			Cardiology    2006    107(4)    261-268	Association of RAGE Gene Polymorphisms with In-Stent Restenosis in Non-Diabetic Korean Population		605762		CDC	2006												
153099	Y	diabetes, type 1 diabetes, type 2 diabetic nephropathy retinopathy, diabetic	IMMUNE	IMM	Diabetic Retinopathy|Diabetic Nephropathies|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	14	14q32	RAGE	101760589	101841284		Lindholm, E.  et al. 2006	16969646	-374 T/A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Scandinavian		CDC GDP info	5891	Hs.104119			Diabetologia    2006	The -374 T/A polymorphism in the gene encoding RAGE is associated with diabetic nephropathy and retinopathy in type 1 diabetic patients		605762		CDC	2006	 Our results show an association between the AGER -374 T/A polymorphism and type 1 diabetes. This association was HLA-DQB1-dependent. The polymorphism was associated with diabetic nephropathy in both type 1 and type 2 diabetes, in an HbA(1c)-dependent manner in the latter group, and also with sight-threatening retinopathy in type 1 diabetic patients.			RAGE		HLA-DQB1						
153100	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32	RAGE	101760589	101841284		Yoon, S. J.  et al. 2007	17172923	RAGE AA/GA genotypes of the RAGE +557G>A			Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Korean		CDC GDP info	5891	Hs.104119			Coron Artery Dis    2007    18(1)    1-8	Association of RAGE gene polymorphisms with coronary artery disease in the Korean population		605762		CDC	2007	The results of this large population study demonstrate that the AA/GA genotypes of the RAGE +557G>A polymorphism are associated with a significantly decreased risk of significant coronary artery disease. Other polymorphisms of RAGE were not significantly associated with the risk of coronary artery disease in this study population.											
153101	Y	C-reactive protein glycation inflammation insulin oxidative stress prostaglandin tumor necrosis factor alpha	IMMUNE	IMM	Inflammation	14	14q32	RAGE	101760589	101841284		Jang, Y.  et al. 2007	17224333				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1	Korean		CDC GDP info	5891	Hs.104119			Metabolism    2007    56(2)    199-205	Association of the Gly82Ser polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating levels of soluble RAGE and inflammatory markers in nondiabetic and nonobese Koreans		605762		CDC	2007												
153103		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q32.2	RANBP5	97403929	97474551		Zhang, H.  et al. 2006	16644122				RAN binding protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002271		China	CDC GDP info	3843	Hs.643743			Neurosci Lett    2006	A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia				CDC	2006												
153105	N	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	17	17q21	RARA	35718971	35820467		Morkuniene, A.  et al. 2007	17272867				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2			CDC GDP info	5914	Hs.137731			J Appl Genet    2007    48(1)    87-9	Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania		180240		CDC	2007												
153106	Y	cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		17	17q21	RARA	35718971	35820467		Fan, G. Z.  et al. 2007	17456381				Retinoic acid receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000964.2			CDC GDP info	5914	Hs.137731			Zhonghua Yi Xue Za Zhi    2007    87(6)    396-8	Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility.		180240		CDC	2007	The A6 and A9 alleles in D17S579 microsatellite marker of RARA gene may be correlated with the development of NSCL/P in Hunan Hans. There is no association between the family history and RARA polymorphism in the NSCL/P patients.		family history									
153107		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.21	RASSF4	44775224	44810178		Morgan, A. R.  et al. 2007	17373700				Ras association (RalGDS/AF-6) domain family 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209446			CDC GDP info	83937	Hs.522895			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
153109		retinoblastoma	VISION	VIS	Retinoblastoma	13	13q14.2	RB1	47775883	47954027		Albrecht, P.  et al. 2005	16127685				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDP info	5925	Hs.408528			Hum Mutat    2005    26(5)    437-45	Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression		180200		CDC	2005												
153110	Y	retinoblastoma	VISION	VIS	Retinoblastoma	13	13q14.2	RB1	47775883	47954027		Valverde, J. R.  et al. 2005	16269091				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDP info	5925	Hs.408528			BMC Genet    2005    6    53	RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database		180200		CDC	2005	The analysis of RB1 gene mutations logged in the RBGMdb has shown relevant phenotype-genotype relationships and provided working hypothesis to ascertain mechanisms linking certain mutations to ethnicity, delayed onset of the disease and low-penetrance. Gene profiling of tumors will help to clarify the genetic background linked to ethnicity and variable expre											
153111		retinoblastoma	VISION	VIS	Retinoblastoma	13	13q14.2	RB1	47775883	47954027		Alonso, J.  et al. 2006	16595082				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2	Spanish;German		CDC GDP info	5925	Hs.408528			Med Clin (Barc)    2006    126(11)    401-5	Molecular diagnosis of retinoblastoma		180200		CDC	2006	Mutational scanning of unilateral patients is important for genetic counselling and may help decipher the molecular mechanisms leading to low penetrance or expressivity.											
153112		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Lesueur, F.  et al. 2006	16685266				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDP info	5925	Hs.408528			Br J Cancer    2006	Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population		180200		CDC	2006												
153114	Y	azoospermia	REPRODUCTION	REP	Oligospermia	X		RBMX	135779018	135790605		Tsujimura, A.  et al. 2006	16491274				RNA binding motif protein, X-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	27316	Hs.380118			Asian J Androl    2006    8(2)    213-8	Associations of homologous RNA-binding motif gene on the X chromosome (RBMX) and its like sequence on chromosome 9 (RBMXL9) with non-obstructive azoospermia		300199		CDC	2006	We provide evidence that deletions in or around RBMX may be involved in NOA.											
153115		diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Prediabetic State|Insulin Resistance	10	10q23-q24	RBP4	95341582	95350983		Craig, R. L.  et al. 2007	17174134				Retinol binding protein 4, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ064708	African American;CaucMexican;Mexican American		CDC GDP info	5950	Hs.50223			Mol Genet Metab    2007    90(3)    338-44	Retinol binding protein 4 as a candidate gene for type 2 diabetes and prediabetic intermediate traits		180250		CDC	2007												
153116		breast cancer	CANCER	CAN	Breast Neoplasms			RCA1				Golshan, M.  et al. 2006	16769276				von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000551			CDC GDP info	7428	Hs.517792			Am J Surg    2006    192(1)    58-62	The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy		603046		CDC	2006	BRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.											
153117		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	9	9p13-p12	RECK	36026915	36114448		Lei, H.  et al. 2006	17033924			promoter	Reversion-inducing-cysteine-rich protein with kazal motifs	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648668			CDC GDP info	8434	Hs.388918			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		605227		CDC	2006												
153118		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	12	12p12	RECQL	21513964	21545796			16520463				RecQ protein-like (DNA helicase Q1-like)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L36140			CDC GDP info	5965	Hs.235069			J Clin Oncol    2006	Single Nucleotide Polymorphisms of RecQ1, RAD54L and ATM Genes Are Associated With Reduced Survival of Pancreatic Cancer		600537		CDC	2006	These observations support the hypothesis that polymorphic variants of DNA repair genes affect clinical prognosis of patients with pancreatic cancer.		gemcitabine radiation									
153120	N	schizophrenia	PSYCH	PSY	Schizophrenia	7	7q22	RELN	102899472	103417198		Huang, C. H.  et al. 2006	16556465			5' untranslated region	Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDP info	5649	Hs.558371			Psychiatry Res    2006	Absence of association of a polymorphic GGC repeat at the 5' untranslated region of the reelin gene with schizophrenia		600514		CDC	2006												
153121		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	7	7q22	RELN	102899472	103417198		Hall, H.  et al. 2007	17366345				Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2			CDC GDP info	5649	Hs.558371			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		600514		CDC	2007												
153122	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q22	RELN	102899472	103417198		Ashley-Koch, A. E.  et al. 2007	17621165				Reelin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005045.2	Caucasian		CDC GDP info	5649	Hs.558371			Psychiatr Genet    2007    17(4)    221-226	Investigation of potential gene-gene interactions between apoe and reln contributing to autism risk		600514		CDC	2007	there is no main effect of APOE in our autism data set, nor is there any evidence for a joint effect of APOE with RELN.											
153123		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Suh, I.  et al. 2006	16615274				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Korean		CDC GDP info	5972	Hs.3210			J Prev Med Pub Health    2006    39(2)    177-83	Association analysis of the essential hypertension susceptibility genes in adolescents		179820		CDC	2006	This study provided useful information on genetics markers related to blood pressure.											
153124		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2	1	1q32	REN	202390570	202402088		Prasad, P.  et al. 2006	16672053				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Indian;Asian	India	CDC GDP info	5972	Hs.3210			BMC Med Genet    2006    7(1)    42	Chronic renal insufficiency among Asian Indians with Type 2 diabetes		179820		CDC	2006	SNPs Met235Thr in angiotensinogen, T>C (-344) in aldosterone synthase, and G>A (-1903) in chymase genes are significantly associated with diabetic chronic renal insufficiency in Indian patients and warrant replication in larger sample sets. Use of such markers for prediction of susceptibility to diabetes specific renal disease in the ethnically Indian popula											
153125		hypertension	CARDIOVASCULAR	CARD		1	1q32	REN	202390570	202402088		Freitas, S. R.  et al. 2007	17546276				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2	Brazilian		CDC GDP info	5972	Hs.3210			Arq Bras Cardiol    2007    88(4)    447-51	Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region		179820		CDC	2007	These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.											
153126		blood pressure, arterial renin activity	PHARMACOGENOMIC	PHARM	Hypertension|Genetic Predisposition to Disease	1	1q32	REN	202390570	202402088		Moore, N.  et al. 2007	17562974				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			CDC GDP info	5972	Hs.3210			Hypertension    2007	Renin Gene Polymorphisms and Haplotypes, Blood Pressure, and Responses to Renin-Angiotensin System Inhibition		179820		CDC	2007			aliskiren losartan									
153128	Y	Hirschsprung's disease intestinal neuronal dysplasia	OTHER	OTH	Hirschsprung Disease|Intestinal Diseases	10	10q11.2	RET	42892522	42945803			16534860				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			World J Gastroenterol    2006    12(7)    1136-9	Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia		164761		CDC	2006	Mutation of RET proto-oncogene is involved in the etiopathogenesis of HD. The frequency of RET proto-oncogene mutation is quite different between IND and HD in Chinese population. IND is a distinct clinical entity genetically different from HD.											
153129	Y	Hirschsprung's disease	OTHER	OTH		10	10q11.2	RET	42892522	42945803		DU, H. S.  et al. 2006	16555159	exon2 and exon13 polymorphisms of RET			Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Zhonghua Wei Chang Wai Ke Za Zhi    2006    9(2)    152-6	Association between RET proto-oncogene polymorphisms and Hirschsprung disease in Chinese Han population of Hubei district.		164761		CDC	2006	These data provide evidences for the contributions of exon2 and exon13 polymorphisms of RET proto-oncogene to susceptibility to HD in Chinese Han population surrounding province.											
153130	Y	thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Fernandez, R. M.  et al. 2006	16646689				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Thyroid    2006    16(4)    411-7	Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma		164761		CDC	2006	These findings would suggest that the major genetic events contributing to the appearance of sMTC may reside in several different RET loci.											
153131	Y	pheochromocytoma	CANCER	CAN		10	10q11.2	RET	42892522	42945803		Han, Z.  et al. 2006	16767674				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    320-2	Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma.		164761		CDC	2006	Some patients with apparently sporadic pheochromacytoma were carrier of mutations, a routine genetic analysis for mutations of RET gene is indicated for these patients.											
153132		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803			16813162				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Mol Biol (Mosk)    2006    40(3)    425-35	RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients		164761		CDC	2006												
153133		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Sangkhathat, S.  et al. 2006	17009072				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Asian		CDC GDP info	5979	Hs.350321			J Hum Genet    2006	Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients		164761		CDC	2006												
153135		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Ruiz-Ferrer, M.  et al. 2006	17108762				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Genet Med    2006    8(11)    704-710	A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes		164761		CDC	2006	These results would be concordant with a complex additive model of inheritance.											
153136		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Garcia-Barcelo, M. M.  et al. 2007	17274802				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Ann Hum Genet    2007	Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease		164761		CDC	2007												
153137		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease|Syndrome	10	10q11.2	RET	42892522	42945803		de Pontual, L.  et al. 2007	17397038				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Hum Mutat    2007	Epistatic interactions with a common hypomorphic Ret allele in syndromic Hirschsprung disease		164761		CDC	2007												
153139		resistin	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X	19	19p13.2	RETN	7639971	7641340		Menzaghi, C.  et al. 2006	16670163				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Caucasian		CDC GDP info	56729	Hs.283091			J Clin Endocrinol Metab    2006	Heritability of serum resistin and its genetic correlation with insulin resistance-related features in non-diabetic Caucasians		605565		CDC	2006	These data indicate that serum resistin is highly heritable and has some common genetic background with traits related to insulin resistance, reinforcing the hypothesis that this adipokine may play a pathogenic role in insulin resistance-related abnormalities, including type 2 diabetes and cardiovascular disease.											
153140		hormone disturbance polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Insulin Resistance|Obesity	19	19p13.2	RETN	7639971	7641340		Escobar-Morreale, H. F.  et al. 2006	16675483				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Hum Reprod    2006	Adiponectin and resistin in PCOS		605565		CDC	2006	PCOS patients present with hypoadiponectinaemia, in relation with abdominal adiposity and hyperandrogenism.											
153141	Y	anorexia nervosa obesity	PSYCH	PSY	Obesity|Anorexia Nervosa	19	19p13.2	RETN	7639971	7641340		Dolinkova, M.  et al. 2006	16921786	-180C > G RETN			resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Cas Lek Cesk    2006    145(7)    562-6	Polymorphisms of adiponectin and resistin genes in patients with obesity and anorexia nervosa		605565		CDC	2006	Polymorphisms 45T > G a 276T > G of ADP gene and 62G>A and -180C > G RETN gene did not influence serum ADP and RETN concentrations. BMI was influenced by T allele presence in 276 position of ADP gene in control group only. Anorexia nervosa patients had higher frequency of G allele of RETN -180 polymorphism compared to healthy women.											
153143	Y	body mass bone density muscle testing	METABOLIC	MET		19	19p13.2	RETN	7639971	7641340		Pistilli, E. E.  et al. 2007	17299113				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Obesity (Silver Spring)    2007    15(2)    392-402	Resistin polymorphisms are associated with muscle, bone, and fat phenotypes in white men and women		605565		CDC	2007												
153144	Y	C-reactive protein cholesterol, HDL insulin	METABOLIC	MET	Insulin Resistance	19	19p13.2	RETN	7639971	7641340		Osawa, H.  et al. 2007	17384338	-420			resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Diabetes Care    2007	Plasma Resistin, Associated with Single Nucleotide Polymorphism -420, is Correlated with Insulin Resistance, Lower HDL, and High Sensitivity CRP in the Japanese General Population		605565		CDC	2007	Plasma resistin was associated with SNP -420 and was correlated with insulin resistance, low serum HDL cholesterol, and high hs-CRP in the Japanese general population.											
153145	Y	brain hemorrhage cerebral infarct, atherothrombotic stroke, lacunar	CARDIOVASCULAR	CARD		19	19p13.2	RETN	7639971	7641340		Lin, X. J.  et al. 2007	17441314				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Chin Med Sci J    2007    22(1)    27-32	Plasma resistin levels and single-nucleotide polymorphisms in resistin gene 5' flanking region in patients with stroke		605565		CDC	2007	Plasma resistin is associated with stroke by participating in the development of IR.											
153146	Y	body fat body mass diabetes, type 2 lipoprotein	METABOLIC	MET		19	19p13.2	RETN	7639971	7641340		Duman, B. S.  et al. 2007	17565416			3' untranslated region	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2	Turkish		CDC GDP info	56729	Hs.283091			Rev Diabet Stud    2007    4(1)    49-55	Association of Resistin Gene 3'-Untranslated Region EX4-44G-->A Polymorphism with Obesity- and Insulin-Related Phenotypes in Turkish Type 2 Diabetes Patients		605565		CDC	2007												
153147	Y	blood pressure, arterial body mass kidney disease metabolic syndrome myocardial infarct obesity triglycerides	CARDIOVASCULAR	CARD	Kidney Diseases|Myocardial Infarction|Metabolic Syndrome X|Obesity|Chronic Disease|Genetic Predisposition to Disease	19	19p13.2	RETN	7639971	7641340		Norata, G. D.  et al. 2007	17598818			promoter	resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			J Intern Med    2007    262(1)    104-12	Effect of the -420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction		605565		CDC	2007	Our data suggest that the presence of the -420C/G SNP of the resistin gene is associated with increased obesity and metabolic syndrome, although it is not different in subjects at high cardiovascular risk such as patients with myocardial infarction or patients with renal dysfunction compared with controls.											
153148	Y	neural tube defects	DEVELOPMENTAL	DEV		21	21q22.3	SLC19A1	45759056	45786779		Pei, L. J.  et al. 2005	16471213				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    665-8	A parental case control study on the association between reduced folate carrier gene polymorphism and neural tube defects		600424		CDC	2005	Our findings indicated that there was potential association between offspring RFC1 GG genotype and the risk of NTDs, and the G allele was a possible susceptible gene marker for an increased NTDs risk in the Chinese population.											
153150		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome	21	21q22.3	SLC19A1	45759056	45786779		Coppede, F.  et al. 2006	16596679				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Italian		CDC GDP info	6573	Hs.507475			Am J Med Genet A    2006	Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women		600424		CDC	2006												
153151		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Mostowska, A.  et al. 2006	16712703				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Clin Genet    2006    69(6)    512-7	Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population		600424		CDC	2006												
153152		Down syndrome	DEVELOPMENTAL	DEV	Down Syndrome|Chromosome Aberrations	21	21q22.3	SLC19A1	45759056	45786779		Scala, I.  et al. 2006	16845273				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Genet Med    2006    8(7)    409-16	Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring		600424		CDC	2006	These results point to a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome.											
153153	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1|Lymphoma|Liver Diseases|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Imanishi, H.  et al. 2006	17180579				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			J Hum Genet    2006	Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma		600424		CDC	2006	GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate.											
153154	N	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	21	21q22.3	SLC19A1	45759056	45786779		Takatori, R.  et al. 2006	17181924				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Clin Exp Rheumatol    2006    24(5)    546-54	ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients		600424		CDC	2006	These results suggested that the genetic diagnosis of ABCB1 C3435T can be applied to determine MTX sensitivity for the treatment of RA patients.											
153156	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Psoriasis	21	21q22.3	SLC19A1	45759056	45786779		Campalani, E.  et al. 2007	17410198				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			J Invest Dermatol    2007	Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis		600424		CDC	2007												
153158		colorectal cancer	CANCER	CAN	Colonic Neoplasms	21	21q22.3	SLC19A1	45759056	45786779		Curtin, K.  et al. 2007	17449906				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		600424		CDC	2007			alcohol folate methionine Vitamin B12									
153159		hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q31	RGS2	191044793	191048026		Riddle, E. L.  et al. 2006	16432041				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1			CDC GDP info	5997	Hs.78944			Hypertension    2006	Polymorphisms and Haplotypes of the Regulator of G Protein Signaling-2 Gene in Normotensives and Hypertensives		600861		CDC	2006												
153160	N	lung cancer	CANCER	CAN	Lung Neoplasms|Cell Transformation, Neoplastic	1	1q31	RGS2	191044793	191048026		Gu, J.  et al. 2006	16691626				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1	Caucasian;Mexican;Mexican American		CDC GDP info	5997	Hs.78944			Cancer    2006	A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans		600861		CDC	2006	To the authors\ knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.											
153161		panic disorder	PSYCH	PSY	Agoraphobia|Panic Disorder	1	1q31	RGS2	191044793	191048026		Leygraf, A.  et al. 2006	16736243				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1	German		CDC GDP info	5997	Hs.78944			J Neural Transm    2006	Rgs 2 gene polymorphisms as modulators of anxiety in humans?		600861		CDC	2006												
153162	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	1	1q31	RGS2	191044793	191048026		Freson, K.  et al. 2007	17143182			promoter	Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1	Chinese;European	Europe	CDC GDP info	5997	Hs.78944			J Hypertens    2007    25(1)    117-125	-391 C to G substitution in the regulator of G-protein signalling-2 promoter increases susceptibility to the metabolic syndrome in white European men		600861		CDC	2007	The C to G substitution at position -391 in the RGS2 promoter increases RGS2 expression in adipocytes and is associated with$$$ the metabolic syndrome in white European men. Further experimental and clinical research should establish whether this common polymorphism might be a target for preventive or therapeutic intervention.											
153163	Y	extrapyramidal side effects	PHARMACOGENOMIC	PHARM	Schizophrenia	1	1q31	RGS2	191044793	191048026		Greenbaum, L.  et al. 2007	17558307				Regulator of G-protein signalling 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002923.1			CDC GDP info	5997	Hs.78944			Pharmacogenet Genomics    2007    17(7)    519-528	Association of the RGS2 gene with extrapyramidal symptoms induced by treatment with antipsychotic medication		600861		CDC	2007	Subject to replication, these findings suggest that genetic variation in the RGS2 gene is associated with susceptibility to extrapyramidal symptoms induced by antipsychotic drugs.											
153165		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004			16526029				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Am J Med Genet B Neuropsychiatr Genet    2006	Evaluation of RGS4 as a candidate gene for schizophrenia		602516		CDC	2006												
153166	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Kampman, O.  et al. 2006	16604300				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	Finnish		CDC GDP info	5999	Hs.386726			J Neural Transm    2006	RGS4 genotype is not associated with antipsychotic medication response in schizophrenia		602516		CDC	2006												
153167		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Talkowski, M. E. et. al.  et al. 2006	16631129				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Biol Psychiatry    2006	Evaluation of a Susceptibility Gene for Schizophrenia		602516		CDC	2006	Our collaborative meta-analysis represents one of the largest SCZ association studies to date. No individual risk factor arose from our analyses, but interpretation of these results is not straightforward. Our analyses suggest risk due to at least two common haplotypes in the presence of heterogeneity. Similar analysis for other putative susceptibility genes is warranted.											
153169	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Guo, S.  et al. 2006	16904822				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3		China	CDC GDP info	5999	Hs.386726			Neurosci Lett    2006	RGS4 polymorphisms and risk of schizophrenia		602516		CDC	2006												
153170		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Nicodemus, K. K.  et al. 2006	17006672				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	German		CDC GDP info	5999	Hs.386726			Hum Genet    2006	Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1		602516		CDC	2006												
153171	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Wood, L. S.  et al. 2006	17055463				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Biol Psychiatry    2006	Significant Support for DAO as a Schizophrenia Susceptibility Locus		602516		CDC	2006	Our results significantly support DAO as a susceptibility locus for schizophrenia and offer some support for the implication of both RGS4 and DISC1 in the etiology of schizophrenia.											
153173	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	1	1q23.3	RGS4	161305774	161313004		Prata, D. P.  et al. 2006	17106420				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3	Scottish		CDC GDP info	5999	Hs.386726			Psychiatr Genet    2006    16(6)    229-230	Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes		602516		CDC	2006	we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.											
153175	N	schizophrenia	PSYCH	PSY		1	1q23.3	RGS4	161305774	161313004		Vilella, E.  et al. 2007	17408693				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			J Psychiatr Res    2007	Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction		602516		CDC	2007	these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes.											
153176	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Bakker, S. C.  et al. 2007	17410640				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Genes Brain Behav    2007    6(2)    113-9	The PIP5K2A and RGS4 genes are differentially associated with deficit and non-deficit schizophrenia		602516		CDC	2007	our data provide further evidence that specific genes may be involved in different schizophrenia subtypes and suggest that the PIP5K2A gene deserves further study as a general susceptibility gene for schizophrenia.											
153177	Y	schizophrenia	PHARMACOGENOMIC	PHARM		1	1q23.3	RGS4	161305774	161313004		Campbell, D. B.  et al. 2007	17588543				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Biol Psychiatry    2007	Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia		602516		CDC	2007	RGS4 genotypes predicted both the severity of baseline symptoms and relative responsiveness to antipsychotic treatment.		perphenazine quetiapine ziprasidone									
153178	N	lung cancer	CANCER	CAN	Lung Neoplasms|Cell Transformation, Neoplastic	14	14q24.3	RGS6	71469585	72100407		Gu, J.  et al. 2006	16691626				Regulator of G-protein signalling 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004296.3	Caucasian;Mexican;Mexican American		CDC GDP info	9628	Hs.509872			Cancer    2006	A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans		603894		CDC	2006	To the authors\ knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.											
153179			NORMALVARIATION	NV		1	1p36.11	RHCE	25561326	25629270		Yan, L.  et al. 2005	15783300				Rhesus blood group, CcEe antigens	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020485.3		China	CDC GDP info	6006	Hs.449968			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		111700		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
153181	P		NORMALVARIATION	NV		1	1p36.11	RHCE	25561326	25629270		Jeremiah, Z. A.  et al. 2006	17140342				Rhesus blood group, CcEe antigens	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020485.3			CDC GDP info	6006	Hs.449968			Afr Health Sci    2006    6(3)    177-81	Abnormal haemoglobin variants, ABO and Rh blood groups among student of African descent in Port Harcourt, Nigeria		111700		CDC	2006	There is a gradual decline in the prevalence of abnormal haemoglobin variants in our black population.											
153182		malaria	INFECTION	INF	Parasitemia|Malaria|Genetic Predisposition to Disease	1	1p36.11	RHCE	25561326	25629270		Nkuo-Akenji, T. K.  et al. 2004	17298125				Rhesus blood group, CcEe antigens	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020485.3			CDC GDP info	6006	Hs.449968			Afr J Health Sci    2004    11(3-4)    93-7	Effects of ABO/Rh blood groups, G-6-P-D enzyme activity and haemoglobin genotypes on malaria parasitaemia and parasite density		111700		CDC	2004												
153183	P		NORMALVARIATION	NV		1	1p36.11	RHD	25471567	25529523		Tripathy, V.  et al. 2006	17036929				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3	Asian	Tibet	CDC GDP info	6007	Hs.643556			Hum Biol    2006    78(2)    229-33	ABO and Rh D polymorphism among Tibetans in India		111680		CDC	2006												
153186		Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome	VISION	VIS	Retinal Degeneration|Retinitis Pigmentosa	3	3q21-q24	RHO	130730171	130736877		Mezer, E.  et al. 2006	16767206				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2			CDC GDP info	6010	Hs.247565			Can J Ophthalmol    2006    41(2)    190-6	Utility of molecular testing for related retinal dystrophies		180380		CDC	2006												
153187	Y	retinitis pigmentosa	VISION	VIS	Vision Disorders|Retinitis Pigmentosa|Genetic Diseases, X-Linked	3	3q21-q24	RHO	130730171	130736877		Sandberg, M. A.  et al. 2007	17325176				Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000539.2			CDC GDP info	6010	Hs.247565			Invest Ophthalmol Vis Sci    2007    48(3)    1298-304	Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations		180380		CDC	2007	Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.											
153188		osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	2	2p24	RHOB	20510315	20512682		Loughlin, J.  et al. 2007	17304710				Ras homolog gene family, member B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004040			CDC GDP info	388	Hs.502876			Am J Hum Genet    2007    80(2)    383-6; author reply 386-7	Genetic association analysis of RHOB and TXNDC3 in osteoarthritis				CDC	2007												
153189		Lynch syndrome	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	14	14q11.2	RNASE1	20339354	20340876		Kruger, S.  et al. 2007	17224235				Ribonuclease, RNase A family, 1 (pancreatic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198235.1			CDC GDP info	6035	Hs.78224			Cancer Lett    2007	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1		180440		CDC	2007												
153191	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	14	14q24-q31	RNASE3	20429401	20430347		Munthe-Kaas, M. C.  et al. 2007	17362255				Ribonuclease, RNase A family, 3 (eosinophil cationic protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002935.2	Norwegian		CDC GDP info	6037	Hs.73839			Allergy    2007    62(4)    429-36	Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes		131398		CDC	2007	The present study suggests that the A-G-G haplotype in the RNASE3 gene influences the development of asthma, in particular, an allergic form of asthma. Furthermore, as the -38CA SNP lies in close vicinity of known intron-regulatory sites, results of SNP analysis suggest that the detected association is possibly linked to a genetic transcriptional control of											
153192		schistosomiasis	INFECTION	INF		14	14q24-q31	RNASE3	20429401	20430347		Eriksson, J.  et al. 2007	17507019			coding sequence	Ribonuclease, RNase A family, 3 (eosinophil cationic protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002935.2			CDC GDP info	6037	Hs.73839			Int J Parasitol    2007	The 434(G>C) polymorphism within the coding sequence of Eosinophil Cationic Protein (ECP) correlates with the natural course of Schistosoma mansoni infection		131398		CDC	2007												
153193		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014			16537704				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Ashkenazi;Jewish	Israel	CDC GDP info	6041	Hs.518545			Cancer Epidemiol Biomarkers Prev    2006    15(3)    474-9	RNASEL Mutation Screening and Association Study in Ashkenazi and Non-Ashkenazi Prostate Cancer Patients		180435		CDC	2006												
153194		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q25	RNASEL	180809394	180825014		Li, H.  et al. 2006	17020975				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2	Caucasian		CDC GDP info	6041	Hs.518545			Clin Cancer Res    2006    12(19)    5713-5719	RNASEL Gene Polymorphisms and the Risk of Prostate Cancer		180435		CDC	2006	Compared with the genotype Asp/Asp, the Glu variant at the Asp541Glu polymorphism increases prostate cancer risk by <2-fold in Caucasians, regardless of family history of the disease. This suggests that genuine genetic effects of this polymorphism may account for only a part of prostate cancer in the Caucasian population.											
153195	N	prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms	1	1q25	RNASEL	180809394	180825014		Daugherty, S. E.  et al. 2007	17407163				Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021133.2			CDC GDP info	6041	Hs.518545			Prostate    2007	RNASEL Arg462Gln polymorphism and prostate cancer in PLCO		180435		CDC	2007	These results suggest that the RNASEL Gln/Gln genotype does not play an important role in the etiology of prostate cancer in the general population.											
153196		bone density	METABOLIC	MET		9	9q22	ROR2	93365193	93752265		Ermakov, S.  et al. 2007	17619808				Receptor tyrosine kinase-like orphan receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209154			CDC GDP info	4920	Hs.98255			Osteoporos Int    2007	Family-based association study of ROR2 polymorphisms with an array of radiographic hand bone strength phenotypes		602337		CDC	2007	The region of the first through the second ROR2 introns is most likely to contain the functional polymorphism/s responsible for the observed associations. Further studies are required to identify the ROR2 functional polymorphism/s affecting bone size and BMD variation.											
153197		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Genetic Predisposition to Disease	6	6q22	ROS1	117716222	118030374		Oguri, M.  et al. 2007	17275003				V-ros UR2 sarcoma virus oncogene homolog 1 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002944.2			CDC GDP info	6098	Hs.1041			Atherosclerosis    2007	Genetic risk for restenosis after coronary stenting		165020		CDC	2007	Determination of the genotypes for BCHE, GPX1, and ROS1 may prove informative for assessment of the genetic risk for in-stent restenosis.											
153199	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.3	RPA1	1680094	1748120		Michiels, S.  et al. 2007	17494052				Replication protein A1, 70kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002945.2	Caucasian		CDC GDP info	6117	Hs.461925			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		179835		CDC	2007												
153200	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	7	7p22	RPA3	7643099	7724763		Michiels, S.  et al. 2007	17494052				Replication protein A3, 14kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002947	Caucasian		CDC GDP info	6119	Hs.487540			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		179837		CDC	2007												
153202	Y	retinitis pigmentosa	VISION	VIS	Vision Disorders|Retinitis Pigmentosa|Genetic Diseases, X-Linked	X	Xp11.4	RPGR	38013366	38071732		Sandberg, M. A.  et al. 2007	17325176				Retinitis pigmentosa GTPase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000328.2			CDC GDP info	6103	Hs.61438			Invest Ophthalmol Vis Sci    2007    48(3)    1298-304	Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations		312610		CDC	2007	Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.											
153203	P		NORMALVARIATION	NV	Anemia, Diamond-Blackfan	19	19q13.2	RPS19	47055827	47067324		Huang, Q.  et al. 2006	17107358				Ribosomal protein S19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ066037			CDC GDP info	6223	Hs.438429			Br J Haematol    2006    135(5)    745-6	A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans		603474		CDC	2006												
153204	Y	breast cancer neutropenia	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neutropenia	11	11p15.5	RRM1	4072586	4116682		Rha, S. Y.  et al. 2007	17602053				Transport protein, putative	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001033.2			CDC GDP info	6240	Hs.558393			Oncologist    2007    12(6)    622-30	An Association Between RRM1 Haplotype and Gemcitabine-Induced Neutropenia in Breast Cancer Patients		180410		CDC	2007	RRM1 haplotype showed an association with susceptibility to gemcitabine monotherapy in breast cancer patients.		gemcitabine									
153206	Y	retinoschisis, x-linked	VISION	VIS	Retinoschisis	X	Xp22.2-p22.1	RS1	18567728	18600150		Suganthalakshmi, B.  et al. 2007	17515881				Retinoschisis (X-linked, juvenile) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000330.2	Indian		CDC GDP info	6247	Hs.584800			Mol Vis    2007    13    611-7	Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis				CDC	2007	This is the first report of mutations in RS1 to be associated with XLRS in the Indian population.											
153207	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21	RTN4R	18608937	18635816		Meng, J.  et al. 2006	16897606				Reticulon 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023004.5			CDC GDP info	65078	Hs.30868			J Neural Transm    2006	No association between the genetic polymorphisms in the RTN4R gene and schizophrenia in the Chinese population		605566		CDC	2006												
153208		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	21	21q22.3	RUNX1	35081967	36278917			16519819				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			CDC GDP info	861	Hs.149261			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		151385		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
153210	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	21	21q22.3	RUNX1	35081967	36278917		Orozco, G.  et al. 2006	16821265				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3	Spanish;Japanese;Caucasian	Spain	CDC GDP info	861	Hs.149261			J Rheumatol    2006    33(7)    1235-1238	SLC22A4, RUNX1, and SUMO4 Polymorphisms Are Not Associated with Rheumatoid Arthritis		151385		CDC	2006	These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population.											
153211	Y	asthma	IMMUNE	IMM	Asthma	21	21q22.3	RUNX1	35081967	36278917		Chae, S. C.  et al. 2006	17079875				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			CDC GDP info	861	Hs.149261			Exp Mol Med    2006    38(5)    583-8	Putative association of RUNX1 polymorphisms with IgE levels in a Korean population		151385		CDC	2006												
153212	Y	bone density	METABOLIC	MET		6	6p21	RUNX2	45404031	45626797			16418782			promoter	Runt-related transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024630			CDC GDP info	860	Hs.535845			J Bone Miner Res    2006    21(2)    265-73	Association of Functionally Different RUNX2 P2 Promoter Alleles With BMD		600211		CDC	2006	Because the high BMD allele had higher P2 promoter activity, the data suggest that greater RUNX2 P2 promoter activity is associated with higher BMD.											
153213	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	9	9q34.3	RXRA	136358230	136472252		Nohara, A.  et al. 2007	17272748				Retinoid X receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002957.3			CDC GDP info	6256	Hs.590886			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia		180245		CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
153214		psoriasis	IMMUNE	IMM	Tonsillitis|Psoriasis	9	9q34.3	RXRA	136358230	136472252		Vasku, V.  et al. 2007	17341859				Retinoid X receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002957.3			CDC GDP info	6256	Hs.590886			Dermatology    2007    214(2)    118-124	Three Retinoid X Receptor Gene Polymorphisms in Plaque Psoriasis and Psoriasis Guttata		180245		CDC	2007	Individual gene characteristics of patients with psoriasis improve the possibilities of pharmacotherapy using pharmacogenomic approaches which could be further stratified in future according to the subtypes of psoriasis.		family history									
153216		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	RXRB	33269342	33276410		van der Slik, A. R.  et al. 2007	17389020				Retinoid X receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021976.3			CDC GDP info	6257	Hs.388034			Tissue Antigens    2007    69(4)    348-53	Sequence variation within the major histocompatibility complex subregion centromeric of HLA class II in type 1 diabetes		180246		CDC	2007												
153217		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	3	3q22	RYK	135358667	135452276		Watanabe, A.  et al. 2006	16681403				RYK receptor-like tyrosine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209405	Japanese;Caucasian;Vietnamese		CDC GDP info	6259	Hs.654562			Cleft Palate Craniofac J    2006    43(3)    310-316	A Mutation in RYK Is a Genetic Factor for Nonsyndromic Cleft Lip and Palate				CDC	2006	The findings suggested that a missense mutation, 1355G>A, and one rare single nucleotide polymorphisms haplotype may play a role in the development of cleft lip and/or palate in the Vietnamese, and cleft lip and/ or palate and cleft palate only in the Japanese.											
153219		cardiomyopathy	CARDIOVASCULAR	CARD	Arrhythmogenic Right Ventricular Dysplasia|Cardiomyopathy, Dilated|Genetic Predisposition to Disease	1	1q42.1-q43	RYR2	235272324	236063911		Milting, H.  et al. 2006	16769042				Ryanodine receptor 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035.1			CDC GDP info	6262	Hs.109514			Cardiovasc Res    2006	Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy		180902		CDC	2006	The RyR2 channel leak under diastolic conditions could cause SR-Ca2+ depletion, concomitantly arrhythmogenesis and heart failure in a subgroup of ARVC patients of genotype T4. A change in the RyR2 subunit composition due to the combined expression of both SNPs alters the behaviour of the tetrameric channel complex.											
153220		depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	1	1q21	S100A10	150222009	150233338		Verma, R.  et al. 2007	17510952				S100 calcium binding protein A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD388106			CDC GDP info	6281	Hs.143873			Am J Med Genet B Neuropsychiatr Genet    2007	Investigating the role of p11 (S100A10) sequence variation in susceptibility to major depression		114085		CDC	2007												
153221		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage	1	1q21	S100A1	151867496	151871137		Kuo, H. W.  et al. 2007	17512776				S100 calcium binding protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM472825			CDC GDP info	6271	Hs.515715			Mutat Res    2007	Urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) and genetic polymorphisms in breast cancer patients		176940		CDC	2007	it was found that oxygen radical generation occurred within carcinoma cells, but the role of polymorphism of specific genes in the development of breast cancer should be evaluated.											
153222		periodontitis	IMMUNE	IMM	Periodontitis	1	1q21	S100A8	151629131	151630173		Li, Q.  et al. 2006	17069562				S100 calcium binding protein A8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG739729			CDC GDP info	6279	Hs.416073			Ann Hum Genet    2006	Correlation between single nucleotide polymorphisms in a calprotectin subunit gene and risk of periodontitis in a Chinese population		123885		CDC	2006												
153224	Y	cognitive function dementia	PSYCH	PSY	Dementia|Genetic Predisposition to Disease|Diseases in Twins|Cognition Disorders	21	21q22.3	S100B	46842958	46849463		Lambert, J. C.  et al. 2007	17579612				S100 calcium binding protein, beta (neural)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006272.1			CDC GDP info	6285	Hs.422181			Mol Psychiatry    2007	Evidence for the association of the S100beta gene with low cognitive performance and dementia in the elderly		176990		CDC	2007												
153225		amyloidosis	METABOLIC	MET	Arthritis, Rheumatoid|Amyloidosis|Genetic Predisposition to Disease	11	11p15.1	SAA1	18244345	18248092		Ajiro, J.  et al. 2006	17039310				Serum amyloid A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000331.2			CDC GDP info	6288	Hs.632144			Mod Rheumatol    2006    16(5)    294-9	SAA1 gene polymorphisms and the risk of AA amyloidosis in Japanese patients with rheumatoid arthritis		104750		CDC	2006												
153226		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10		SAR1A	71579966	71600272		Morgan, A. R.  et al. 2007	17373700				SAR1 gene homolog A (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020150.3			CDC GDP info	56681	Hs.499960			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		607691		CDC	2007												
153229		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Anemia, Aplastic	7	7q11.21	SBDS	66090124	66098023		Calado, R. T.  et al. 2007	17478638				Shwachman-Bodian-Diamond syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY169963			CDC GDP info	51119	Hs.110445			Blood    2007	Mutations in the SBDS gene in acquired aplastic anemia		607444		CDC	2007												
153230			NORMALVARIATION	NV		1	1p34.2	SC				Yan, L.  et al. 2005	15783300				erythroblast membrane-associated protein (Scianna blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001017922		China	CDC GDP info	114625	Hs.439437			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		609017		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
153231	N	body mass cholesterol cholesterol, LDL glucose insulin lipids	METABOLIC	MET	Weight Loss	3	3p21.31	SCAP	47430187	47492449		Nieminen, T.  et al. 2007	17570245				SREBF chaperone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012235			CDC GDP info	22937	Hs.531789			Metabolism    2007    56(7)    876-80	The relationship of sterol regulatory element-binding protein cleavage-activation protein and apolipoprotein E gene polymorphisms with metabolic changes during weight reduction		601510		CDC	2007	neither the SCAP Ile796Val nor the apo E polymorphism was associated with weight loss in obese premenopausal women.		diet									
153232		cholesterol, HDL	CARDIOVASCULAR	CARD	Coronary Artery Disease	12	12q24.31	SCARB1	123828128	123914287			16542392				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3	Caucasian		CDC GDP info	949	Hs.298813			Clin Genet    2006    69(3)    263-70	Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels		601040		CDC	2006												
153234		triglycerides	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Tanaka, T.  et al. 2007	17311943				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3	Caucasian		CDC GDP info	949	Hs.298813			J Nutr    2007    137(3)    578-82	Scavenger receptor class B type I (SCARB1) c.1119C>T polymorphism affects postprandial triglyceride metabolism in men		601040		CDC	2007												
153235	Y	cholesterol, HDL	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Roberts, C. G.  et al. 2007	17476110				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDP info	949	Hs.298813			Hum Hered    2007    64(2)    107-113	Variants in Scavenger Receptor Class B Type I Gene Are Associated with HDL Cholesterol Levels in Younger Women		601040		CDC	2007	S:SCARB1 SNPs influence HDL-C levels in women, particularly in those less than 50 years old. Condensed Abstract: We assessed associations between SCARB1 SNPs and lipid traits in 919 Amish men and women. Two SNPs, rs3782287 and rs5888, were significantly associated with higher HDL-C levels in women younger than 50 years but not in women aged 50 years or older, supporting an interaction between common sequence variants in SCARB1 and estrogen on HDL-C.											
153237	Y	obesity	METABOLIC	MET	Obesity	15	15q21	SCG3	49760841	49800515		Tanabe, A.  et al. 2007	17200173				Secretogranin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013243			CDC GDP info	29106	Hs.232618			J Clin Endocrinol Metab    2007	Functional SNPs in the Secretogranin III (SCG3) Gene that Forms Secretory Granules with Appetite-Related Neuropeptides are Associated with Obesity		608896		CDC	2007	Genetic variations in the SCG3 gene may influence the risk of obesity through possible regulation of hypothalamic neuropeptide secretion.											
153238	N	diabetes, type 2 glucose tolerance obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance|Obesity	15	15q13-q14	SCG5	30721251	30776590		Bouatia-Naji, N.  et al. 2007	17617923				Secretogranin V (7B2 protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BU570828	Caucasian;French		CDC GDP info	6447	Hs.156540			BMC Med Genet    2007    8(1)    44	Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity				CDC	2007	SGNE1 genetic variation does not contribute to obesity and common forms of T2D but may worsen glucose intolerance and insulin resistance, especially in the background of severe and early onset obesity.											
153239		purpura, henoch-schonlein	IMMUNE	IMM		11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Eisenstein, E. M.  et al. 2006	16625379				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDP info	7356	Hs.523732			Pediatr Nephrol    2006	Analysis of a uteroglobin gene polymorphism in childhood Henoch-Schonlein purpura		192020		CDC	2006												
153240		purpura, henoch-schonlein	IMMUNE	IMM	Purpura, Schoenlein-henoch|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Eisenstein, E. M.  et al. 2006	16703373				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3			CDC GDP info	7356	Hs.523732			Pediatr Nephrol    2006    21(6)    782-4	Analysis of a uteroglobin gene polymorphism in childhood Henoch-Schonlein purpura		192020		CDC	2006												
153241	N	personality traits	PSYCH	PSY		11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Tochigi, M.  et al. 2006	16764982				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3		Japan	CDC GDP info	7356	Hs.523732			Prog Neuropsychopharmacol Biol Psychiatry    2006	No association between the Clara cell secretory protein (CC16) gene polymorphism and personality traits		192020		CDC	2006												
153242	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Yong, D.  et al. 2006	16797381				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	European;Asian		CDC GDP info	7356	Hs.523732			Am J Kidney Dis    2006    48(1)    1-7	Association of uteroglobin G38A polymorphism with IgA nephropathy		192020		CDC	2006												
153244	N	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Lim, C. S.  et al. 2007	17338426				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3	Korean		CDC GDP info	7356	Hs.523732			Clin Nephrol    2007    67(2)    73-80	Association between the clara cell secretory protein (CC16) G38A polymorphism and the progression of IgA nephropathy		192020		CDC	2007	Our results suggest that CC 16 gene G38A polymorphism is not associated with the development of IgAN, but that it is an important marker of progression in IgAN.											
153246		severe myoclonic epilepsy of infancy	NEUROLOGICAL	NEUR	Epilepsy|Epilepsies, Myoclonic|Epilepsies, Partial|Epilepsy, Generalized|Neurodegenerative Diseases	2	2q24.3	SCN1A	166553915	166638395		Harkin, L. A.  et al. 2007	17347258				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			CDC GDP info	6323	Hs.22654			Brain    2007    130(Pt 3)    843-52	The spectrum of SCN1A-related infantile epileptic encephalopathies		182389		CDC	2007												
153247		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	11	11q23.3	SCN3B	123005104	123030525		Park, J. W.  et al. 2006	16415175				Sodium channel, voltage-gated, type III, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018400			CDC GDP info	55800	Hs.4865			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		608214		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
153248		long QT syndrome	CARDIOVASCULAR	CARD	Romano-Ward Syndrome	3	3p21	SCN5A	38564556	38666167			16414944				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			JAMA    2005    294(23)    2975-80	Genetic testing in the long QT syndrome		600163		CDC	2005	We have developed an approach to improve the efficiency of genetic screening for LQTS.											
153249		Brugada syndrome	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Ventricular Fibrillation|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167			16415376			promoter	Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Asian		CDC GDP info	6331	Hs.517898			Circulation    2006	Common Sodium Channel Promoter Haplotype in Asian Subjects Underlies Variability in Cardiac Conduction		600163		CDC	2006	These data demonstrate that genetically determined variable sodium channel transcription occurs in the human heart and is associated with$$$ variable conduction velocity, an important contributor to arrhythmia susceptibility.											
153251	N	myocardial infarct	CARDIOVASCULAR	CARD	Heart Arrest|Coronary Artery Disease	3	3p21	SCN5A	38564556	38666167		Stecker, E. C.  et al. 2006	16731473				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Caucasian		CDC GDP info	6331	Hs.517898			Heart Rhythm    2006    3(6)    697-700	Allelic variants of SCN5A and risk of sudden cardiac arrest in patients with coronary artery disease		600163		CDC	2006	The overall prevalence of amino acid-altering polymorphisms of the SCN5A gene was relatively low in both groups. Allelic variants of SCN5A did not contribute to risk of sudden cardiac arrest in this primarily Caucasian population with significant CAD.											
153252		gastrointestinal symptoms	CARDIOVASCULAR	CARD	Gastrointestinal Diseases|Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Locke, G. R. = 3rd et al. 2006	16771953				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Am J Gastroenterol    2006    101(6)    1299-304	Gastrointestinal Symptoms in Families of Patients with an SCN5A-Encoded Cardiac Channelopathy		600163		CDC	2006	This study is the first to suggest an association between a well-defined cardiac channelopathy and GI symptoms. The role of sodium channelopathies in the pathogenesis of digestive diseases merits exploration.											
153253			CARDIOVASCULAR	CARD	Long QT Syndrome	3	3p21	SCN5A	38564556	38666167		Tester, D. J.  et al. 2006	16818214				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Heart Rhythm    2006    3(7)    815-21	Allelic dropout in long QT syndrome genetic testing		600163		CDC	2006	Allelic dropout secondary to intronic SNP-primer mismatch prevented the discovery of LQTS-causing mutations in four cases. Considering that many LQTS genetic testing research laboratories have used these primers, patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupt											
153254		long QT syndrome	CARDIOVASCULAR	CARD	Long QT Syndrome|Torsades de Pointes|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Mank-Seymour, A. R.  et al. 2006	17161064				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Am Heart J    2006    152(6)    1116-22	Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes		600163		CDC	2006	Genotypes alone could not be used to completely predict susceptibility to TdP, even when used with phenotypes.											
153257	N	atriventricular block long QT syndrome	CHEMDEPENDENCY	CHEM	Heart Block|Torsades de Pointes|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Chevalier, P.  et al. 2007	17275752				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Heart Rhythm    2007    4(2)    170-4	Torsades de pointes complicating atrioventricular block		600163		CDC	2007	This study showed that complete AV block complicated by LQTS was associated with HERG mutations in 17% of cases. Further studies are needed to identify factors, genetic or environmental, which may be implicated in bradycardia-related abnormalities of ventricular repolarization.											
153258	N	EKG, abnormal	CARDIOVASCULAR	CARD		3	3p21	SCN5A	38564556	38666167		Gouas, L.  et al. 2007	17534376				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Caucasian;European		CDC GDP info	6331	Hs.517898			Eur J Hum Genet    2007	Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects		600163		CDC	2007	our study confirms the reported associations between QTc length and KCNQ1 rs757092 and KCNH2 rs3815459.											
153259	N	Brugada syndrome	CARDIOVASCULAR	CARD	Brugada Syndrome	3	3p21	SCN5A	38564556	38666167		Koopmann, T. T.  et al. 2007	17556197				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			Heart Rhythm    2007    4(6)    752-5	Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort		600163		CDC	2007	Large genomic rearrangements in SCN5A are not a common cause of Brugada syndrome.											
153260		left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	2	2q21-q23	SCN7A	166969784	167058963		Meyers, K. J.  et al. 2007	17339538				Sodium channel, voltage-gated, type VII, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002976.1			CDC GDP info	6332	Hs.591623			Hypertension    2007	Genetic Variations Associated With Echocardiographic Left Ventricular Traits in Hypertensive Blacks		182392		CDC	2007												
153261	N	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	12	12p13	SCNN1A	6326273	6354976		Stanke, F.  et al. 2006	16463024				Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4	European		CDC GDP info	6337	Hs.591047			Hum Genet    2006        1-13	The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis		600228		CDC	2006	SCNN1A is not a CF modulator											
153263		diuresis	PHARMACOGENOMIC	PHARM		12	12p13	SCNN1A	6326273	6354976		Vormfelde, S. V.  et al. 2007	17460608				Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4	Caucasian		CDC GDP info	6337	Hs.591047			Clin Pharmacol Ther    2007	Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs		600228		CDC	2007	acute diuretic effects of loop diuretics were affected by genetic variation in sodium transporters that, in the nephron, are located distally from NKCC2.		bumetanide frusemide torsemide									
153265	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Dhanjal, M.  et al. 2006	16579800				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1			CDC GDP info	6338	Hs.414614			BJOG    2006	Association of pre-eclampsia with the R563Q mutation of the beta-subunit of the epithelial sodium channel		600760		CDC	2006												
153266		diuresis	PHARMACOGENOMIC	PHARM		16	16p12.2-p12.1	SCNN1B	23221091	23300121		Vormfelde, S. V.  et al. 2007	17460608				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1	Caucasian		CDC GDP info	6338	Hs.414614			Clin Pharmacol Ther    2007	Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs		600760		CDC	2007	acute diuretic effects of loop diuretics were affected by genetic variation in sodium transporters that, in the nephron, are located distally from NKCC2.		bumetanide frusemide torsemide									
153267	N	cystic fibrosis	OTHER	OTH		16	16p12.2-p12.1	SCNN1B	23221091	23300121		Viel, M.  et al. 2007	17560176				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1			CDC GDP info	6338	Hs.414614			J Cyst Fibros    2007	ENaCbeta and gamma genes as modifier genes in cystic fibrosis		600760		CDC	2007	Our results suggest that genetic variants in ENaCbeta and gamma genes do not modulate disease severity in the majority of CF patients.											
153268	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p12.2-p12.1	SCNN1B	23221091	23300121		Gonzalez, A. A.  et al. 2007	17586416				Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1			CDC GDP info	6338	Hs.414614			Am J Hypertens    2007    20(7)    800-6	A Polymorphic GT Short Tandem Repeat Affecting beta-ENaC mRNA Expression Is Associated With Low Renin Essential Hypertension		600760		CDC	2007	We have identified a polymorphic GT-STR in the beta-ENaC gene, which is present in the EH and NT Chilean population. Biochemical analysis showed a possible linkage between this polymorphic region and low renin hypertension. The in vitro assay suggests that GT-STR could regulate the beta-ENaC expression.											
153269		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	16	16p12	SCNN1G	23101540	23135701		Stanke, F.  et al. 2006	16463024				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2	European		CDC GDP info	6340	Hs.371727			Hum Genet    2006        1-13	The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis		600761		CDC	2006												
153270		diuresis	PHARMACOGENOMIC	PHARM		16	16p12	SCNN1G	23101540	23135701		Vormfelde, S. V.  et al. 2007	17460608				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2	Caucasian		CDC GDP info	6340	Hs.371727			Clin Pharmacol Ther    2007	Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs		600761		CDC	2007	acute diuretic effects of loop diuretics were affected by genetic variation in sodium transporters that, in the nephron, are located distally from NKCC2.		bumetanide frusemide torsemide									
153272	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	1	1pter-p22.3	SDC3	31114899	31116976		Ha, E.  et al. 2006	17018662				Syndecan 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB007937	Chinese;European;Korean	Korea	CDC GDP info	9672	Hs.158287			J Clin Endocrinol Metab    2006	Positive association of obesity with single nucleotide polymorphisms of syndecan 3 (SDC3) in Korean population		186357		CDC	2006	There are ethnic differences in the SDC3 polymorphisms, and the polymorphisms are strongly associated with obesity.											
153273		spermatogenesis	REPRODUCTION	REP	Infertility, Male	5	5p15	SDHA	271446	309792		Bonache, S.  et al. 2007	17298551				Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK131478			CDC GDP info	6389	Hs.440475			Int J Androl    2007	Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes		600857		CDC	2007												
153275		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	1	1p36.1-p35	SDHB	17217811	17253252		Korpershoek, E.  et al. 2006	17102080				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDP info	6390	Hs.465924			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		185470		CDC	2006												
153276		spermatogenesis	REPRODUCTION	REP	Infertility, Male	1	1p36.1-p35	SDHB	17217811	17253252		Bonache, S.  et al. 2007	17298551				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDP info	6390	Hs.465924			Int J Androl    2007	Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes		185470		CDC	2007												
153277	Y	head and neck cancer	CANCER	CAN	Paraganglioma|Carotid Body Tumor|Glomus Jugulare Tumor|Bone Neoplasms|Head and Neck Neoplasms|Lymphatic Metastasis	1	1p36.1-p35	SDHB	17217811	17253252		Boedeker, C. C.  et al. 2007	17599579				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDP info	6390	Hs.465924			Otolaryngol Head Neck Surg    2007    137(1)    126-129	Malignant head and neck paragangliomas in SDHB mutation carriers		185470		CDC	2007	SDHB mutations are associated with a high rate of malignant HNPs.											
153279	N	H. pylori infection stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Atrophy	1	1q21	SDHC	159550789	159601159		Goto, Y.  et al. 2006	17250422				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3		Japan	CDC GDP info	6391	Hs.444472			Asian Pac J Cancer Prev    2006    7(4)    525-8	No Association of an SDHC Gene Polymorphism with Gastric Cancer		602413		CDC	2006												
153280		spermatogenesis	REPRODUCTION	REP	Infertility, Male	1	1q21	SDHC	159550789	159601159		Bonache, S.  et al. 2007	17298551				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3			CDC GDP info	6391	Hs.444472			Int J Androl    2007	Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes		602413		CDC	2007												
153281	N	head and neck cancer	CANCER	CAN	Paraganglioma|Carotid Body Tumor|Glomus Jugulare Tumor|Bone Neoplasms|Head and Neck Neoplasms|Lymphatic Metastasis	1	1q21	SDHC	159550789	159601159		Boedeker, C. C.  et al. 2007	17599579				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3			CDC GDP info	6391	Hs.444472			Otolaryngol Head Neck Surg    2007    137(1)    126-129	Malignant head and neck paragangliomas in SDHB mutation carriers		602413		CDC	2007	SDHB mutations are associated with a high rate of malignant HNPs.											
153283		spermatogenesis	REPRODUCTION	REP	Infertility, Male	11	11q23	SDHD	111462831	111471727		Bonache, S.  et al. 2007	17298551				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDP info	6392	Hs.356270			Int J Androl    2007	Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes		602690		CDC	2007												
153284	N	head and neck cancer	CANCER	CAN	Paraganglioma|Carotid Body Tumor|Glomus Jugulare Tumor|Bone Neoplasms|Head and Neck Neoplasms|Lymphatic Metastasis	11	11q23	SDHD	111462831	111471727		Boedeker, C. C.  et al. 2007	17599579				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDP info	6392	Hs.356270			Otolaryngol Head Neck Surg    2007    137(1)    126-129	Malignant head and neck paragangliomas in SDHB mutation carriers		602690		CDC	2007	SDHB mutations are associated with a high rate of malignant HNPs.											
153285		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q22.2	SEC24C	75174137	75201925		Morgan, A. R.  et al. 2007	17373700				SEC24 related gene family, member C (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL832110			CDC GDP info	9632	Hs.654429			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
153287			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Lee, J. K.  et al. 2003	12768436				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Japanese;Caucasian;Korean		CDC GDP info	6401	Hs.89546			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		131210		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
153288	N	renal scarring urinary tract infection	RENAL	REN	Urinary Tract Infections	1	1q22-q25	SELE	167958405	167969803			16426244				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Int J Immunogenet    2006    33(1)    49-53	Association between ICAM-1 Gly-Arg polymorphism and renal parenchymal scarring following childhood urinary tract infection		131210		CDC	2006												
153289	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q22-q25	SELE	167958405	167969803			16544732	ELAM (128arg)			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	French;Israeli		CDC GDP info	6401	Hs.89546			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		131210		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
153290	Y	atherosclerosis, carotid kidney failure, chronic	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Carotid Stenosis|Kidney Failure, Chronic|Atherosclerosis|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Testa, A.  et al. 2006	16554320				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Nephrol Dial Transplant    2006	The E-selectin gene polymorphism and carotid atherosclerosis in end-stage renal disease		131210		CDC	2006	In ESRD, the Leu554Phe polymorphism of E-selectin gene is associated with the severity of carotid atherosclerosis, suggesting that genetically-determined alterations in the E-selectin molecule may render ESRD patients with this gene variant particularly susceptible to the detrimental effects of inflammation on the arterial wall.											
153291		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Abu-Amero, K. K.  et al. 2006	16756647				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Saudi		CDC GDP info	6401	Hs.89546			BMC Med Genet    2006    7(1)    52	E-selectin S128R polymorphism and severe coronary artery disease in Arabs		131210		CDC	2006	Among the Saudi population, The E-selectin p. S128R (g. A561C) polymorphism was associated with angiographic CAD in Univariate analysis, but lost its association in multivariate analysis.											
153292		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Reperfusion Injury|Myocardial Infarction|Genetic Predisposition to Disease|Systemic Inflammatory Response Syndrome|Postoperative Complications	1	1q22-q25	SELE	167958405	167969803		Podgoreanu, M. V.  et al. 2006	16820586				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Circulation    2006    114(1 Suppl)    I275-81	Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery		131210		CDC	2006	Functional genetic variants in cytokine and leukocyte-endothelial interaction pathways are independently associated with severity of myonecrosis after cardiac surgery. This may aid in preoperative identification of high-risk cardiac surgical patients and development of novel cardioprotective strategies.											
153293	Y	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Brain Ischemia|Intracranial Thrombosis|Hypercholesterolemia|Diabetes Complications|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Hattori, H.  et al. 2006	16843446	SELE A561C			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Japan	CDC GDP info	6401	Hs.89546			Brain Res    2006	A561C polymorphism of E-selectin is associated with ischemic cerebrovascular disease in the Japanese population without diabetes mellitus and hypercholesterolemia		131210		CDC	2006												
153295	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Recurrence	1	1q22-q25	SELE	167958405	167969803		Jilma, B.  et al. 2006	16908800	SELE  S128R			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Arch Intern Med    2006    166(15)    1655-1659	Homozygosity in the Single Nucleotide Polymorphism Ser128Arg in the E-Selectin Gene Associated With Recurrent Venous Thromboembolism		131210		CDC	2006	Homozygosity for the S128R E-selectin allele appears to increase the risk for recurrent VTE several fold. If these findings are confirmed, this may represent a novel risk factor for recurrent VTE. These results also expand our knowledge on the association of this SNP with thrombotic disorders.											
153296		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Kaur, G.  et al. 2006	16916660				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Indian		CDC GDP info	6401	Hs.89546			Hum Immunol    2006    67(8)    634-8	Polymorphism in L-selectin, e-selectin and icam-1 genes in asian Indian pediatric patients with celiac disease		131210		CDC	2006												
153297	Y	kidney failure, chronic	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic|Disease Progression	1	1q22-q25	SELE	167958405	167969803		Watanabe, Y.  et al. 2006	16974056				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Intern Med    2006    45(16)    947-51	Impact of selectin gene polymorphisms on rapid progression to end-stage renal disease in patients with IgA nephropathy		131210		CDC	2006	This study provides a possible association between the selectin gene polymorphisms and the rapid progression to ESRD in IgAN patients.											
153298		birth weight bronchopulmonary dysplasia sepsis	IMMUNE	IMM	Sepsis|Bronchopulmonary Dysplasia	1	1q22-q25	SELE	167958405	167969803		Derzbach, L.  et al. 2006	16982492				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Acta Paediatr    2006    95(10)    1213-7	Selectin polymorphisms and perinatal morbidity in low-birthweight infants		131210		CDC	2006	Our results underline the importance of L-selectin in perinatal pathology, but further studies are needed to evaluate the alteration of L-selectin levels in carriers of the 213Ser allele and their possible contribution to premature birth and bronchopulmonary dysplasia.											
153300		cholesterol, HDL	METABOLIC	MET	Hyperlipoproteinemia Type II	1	1q22-q25	SELE	167958405	167969803		Dedoussis, G. V.  et al. 2006	17020471				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Genet Test    2006    10(3)    192-9	Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients		131210		CDC	2006												
153301	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	1	1q22-q25	SELE	167958405	167969803		Carmichael, S. L.  et al. 2006	17036337				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		131210		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
153303		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Neoplasm Metastasis	1	1q22-q25	SELE	167958405	167969803		Alessandro, R.  et al. 2007	17372905				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Int J Cancer    2007	Role of S128R polymorphism of E-selectin in colon metastasis formation		131210		CDC	2007												
153304		asthma	IMMUNE	IMM		1	1q22-q25	SELE	167958405	167969803		Nadi, E.  et al. 2007	17563404				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Iranian		CDC GDP info	6401	Hs.89546			Iran J Allergy Asthma Immunol    2007    6(2)    49-57	E-Selectin S128R Polymorphism Leads to Severe Asthma		131210		CDC	2007												
153305	Y	heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Abu-Amero, K. K.  et al. 2007	17578587	SELE 128R			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1	Saudi		CDC GDP info	6401	Hs.89546			BMC Med Genet    2007    8(1)    35	The interactive role of diabetes mellitus type 2 and E-selectin S128R mutation on coronary heart disease manifestation		131210		CDC	2007	Our findings indicate therefore that the risk of acquiring CAD in patients with DM2 increases significantly in the presence of the 128R mutant allele of the E-selectin gene.		diabetes									
153306	Y	brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease|Recurrence	1	1q23-q25	SELL	167926431	167947461		Rafiei, A.  et al. 2006	16585636				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDP info	6402	Hs.82848			J Med Microbiol    2006    55(Pt 5)    511-6	Association between the Phe206Leu polymorphism of L-selectin and brucellosis		153240		CDC	2006												
153308	Y	kidney failure, chronic	RENAL	REN	Glomerulonephritis, IGA|Kidney Failure, Chronic|Disease Progression	1	1q23-q25	SELL	167926431	167947461		Watanabe, Y.  et al. 2006	16974056				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDP info	6402	Hs.82848			Intern Med    2006    45(16)    947-51	Impact of selectin gene polymorphisms on rapid progression to end-stage renal disease in patients with IgA nephropathy		153240		CDC	2006	This study provides a possible association between the selectin gene polymorphisms and the rapid progression to ESRD in IgAN patients.											
153309		birth weight bronchopulmonary dysplasia sepsis	IMMUNE	IMM	Sepsis|Bronchopulmonary Dysplasia	1	1q23-q25	SELL	167926431	167947461		Derzbach, L.  et al. 2006	16982492				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDP info	6402	Hs.82848			Acta Paediatr    2006    95(10)    1213-7	Selectin polymorphisms and perinatal morbidity in low-birthweight infants		153240		CDC	2006	Our results underline the importance of L-selectin in perinatal pathology, but further studies are needed to evaluate the alteration of L-selectin levels in carriers of the 213Ser allele and their possible contribution to premature birth and bronchopulmonary dysplasia.											
153310		heart disease, ischemic	CARDIOVASCULAR	CARD		1	1q23-q25	SELL	167926431	167947461		Xia, Z.  et al. 2007	17407075				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDP info	6402	Hs.82848			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    173-6	Association of L-selectin gene polymorphism with susceptibility to coronary heart disease.		153240		CDC	2007	Our findings suggest that L-selectin gene 213P mutant allele might contribute to susceptibility of Chinese individuals to contract CHD.											
153311	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	1	1q23-q25	SELL	167926431	167947461		Chen, H. Y.  et al. 2007	17465998				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2			CDC GDP info	6402	Hs.82848			Clin Endocrinol (Oxf)    2007	l-selectin gene polymorphisms in Graves' disease		153240		CDC	2007	s l-selectin gene polymorphisms are associated with GD susceptibility in Chinese patients.											
153312	N	angina myocardial infarct peripheral vascular disease stroke transient ischemic attacks	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	1	1q22-q25	SELP	167824711	167866031		Zalewski, G.  et al. 2006	16935700				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2	Italian		CDC GDP info	6403	Hs.73800			Nutr Metab Cardiovasc Dis    2006    16(6)    418-425	P-selectin gene genotypes or haplotypes and cardiovascular complications in type 2 diabetes mellitus		173610		CDC	2006	The present study excludes a major contribution of Tyr715Pro, Asn562Asp and Ser290Asn P-selectin polymorphisms to a susceptibility to ischemic vascular complications in type 2 diabetes.											
153313		birth weight bronchopulmonary dysplasia sepsis	IMMUNE	IMM	Sepsis|Bronchopulmonary Dysplasia	1	1q22-q25	SELP	167824711	167866031		Derzbach, L.  et al. 2006	16982492				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Acta Paediatr    2006    95(10)    1213-7	Selectin polymorphisms and perinatal morbidity in low-birthweight infants		173610		CDC	2006	Our results underline the importance of L-selectin in perinatal pathology, but further studies are needed to evaluate the alteration of L-selectin levels in carriers of the 213Ser allele and their possible contribution to premature birth and bronchopulmonary dysplasia.											
153314	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Wang, Z. H.  et al. 2006	17074110				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Zhonghua Nei Ke Za Zhi    2006    45(7)    559-64	The association of single nucleotide P-selectin gene polymorphism with IgA nephropathy.		173610		CDC	2006	The SNP of -825A/G in the promoter region of P-selectin gene was significantly associated with IgA nephropathy susceptibility and patient\s renal function, thus suggesting the genetic effect of P-selectin gene in the pathogenesis of IgA nephropathy.											
153316		thromboembolism, venous thrombosis, arterial	CARDIOVASCULAR	CARD	Thromboembolism|Thrombosis|Venous Thrombosis|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Bugert, P.  et al. 2007	17393020				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Thromb Haemost    2007    97(4)    573-80	The risk for thromboembolic disease in lupus anticoagulant patients due to pathways involving P-selectin and CD154		173610		CDC	2007												
153317	Y	heart disease, ischemic stroke, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Ischemia	1	1q22-q25	SELP	167824711	167866031		Volcik, K. A.  et al. 2007	17420019	SELP S290N,			Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Atherosclerosis    2007	Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke		173610		CDC	2007	PSEL S290N, in single polymorphism analysis and in the haplotypic background with T715P, was associated with increased risk of incident CHD in whites.											
153318	Y	cognitive function	PSYCH	PSY	Genetic Predisposition to Disease|Cognition Disorders	1	1q22-q25	SELP	167824711	167866031		Mathew, J. P.  et al. 2007	17498578				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2	European		CDC GDP info	6403	Hs.73800			J Am Coll Cardiol    2007    49(19)    1934-42	Genetic variants in P-selectin and C-reactive protein influence susceptibility to cognitive decline after cardiac surgery		173610		CDC	2007	The results suggest a contribution of P-selectin and CRP genes in modulating susceptibility to cognitive decline after cardiac surgery, with potential implications for identifying populations at risk who might benefit from targeted perioperative antiinflammatory strategies.											
153319	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Ay, C.  et al. 2007	17510305	SELP  Pro715	sP-selectin concentrations are lower in individuals carrying the P-selectin Pro715 variant than in those without this variant.		Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Clin Chem    2007	High Concentrations of Soluble P-Selectin Are Associated with Risk of Venous Thromboembolism and the P-Selectin Thr715 Variant		173610		CDC	2007	Increased sP-selectin concentrations are associated with VTE and genotype status. sP-selectin concentrations are lower in individuals carrying the P-selectin Pro715 variant than in those without this variant.											
153320		diabetes, type 2 sP-selectin levels	METABOLIC	MET	Diabetes Mellitus, Type 2|Overweight	1	1q22-q25	SELP	167824711	167866031		Nagy, B. = Jr et al. 2007	17598012				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Thromb Haemost    2007    98(1)    186-91	Investigation of Thr715Pro P-selectin gene polymorphism and soluble P-selectin levels in type 2 diabetes mellitus		173610		CDC	2007												
153321	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Thrombosis	12	12q24	SELPLG	107539808	107551799		Ozben, B.  et al. 2007	17221329				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDP info	6404	Hs.591014			J Thromb Thrombolysis    2007	The association of P-selectin glycoprotein ligand-1 VNTR polymorphisms with coronary stent restenosis		600738		CDC	2007	No significant association was found between PSGL-1 VNTR polymorphisms and in-stent restenosis. However, in patients with a family history of early CAD presence of PSGL-1 AB genotype might increase the risk of in-stent restenosis.		family history									
153322	Y	heart disease, ischemic stroke, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Ischemia	12	12q24	SELPLG	107539808	107551799		Volcik, K. A.  et al. 2007	17420019	PSGL-1 genotypes carrying the 62I allele were significantly protective for incident CHD and ischemic stroke  in African Americans.			Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDP info	6404	Hs.591014			Atherosclerosis    2007	Specific P-selectin and P-selectin glycoprotein ligand-1 genotypes/haplotypes are associated with risk of incident CHD and ischemic stroke		600738		CDC	2007	PSEL S290N, in single polymorphism analysis and in the haplotypic background with T715P, was associated with increased risk of incident CHD in whites.											
153323	Y	antiphospholipid syndrome thrombosis	IMMUNE	IMM	Thrombosis|Antiphospholipid Syndrome|Genetic Predisposition to Disease	12	12q24	SELPLG	107539808	107551799		Diz-Kucukkaya, R.  et al. 2007	17545190				Selectin P ligand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003006.3			CDC GDP info	6404	Hs.591014			Ann Rheum Dis    2007	P-selectin glycoprotein ligand-1 VNTR polymorphisms and risk of thrombosis in the antiphospholipid syndrome		600738		CDC	2007	We suggest that the VNTR polymorphism of PSGL-1 is a significant determinant of the thrombotic predisposition of patients with APS. Further, risk appears to correlate best with the combination of alleles inherited rather than the presence of any particular allele.											
153324	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.2	SEMA5A	9091856	9599158		Bialecka, M.  et al. 2006	16481103				Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003966	Caucasian;Polish;Singapore		CDC GDP info	9037	Hs.27621			Neurosci Lett    2006	Polymorphism in semaphorin 5A (Sema5A) gene is not a marker of Parkinson's disease risk				CDC	2006												
153325		bone density fracture risk	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Bone|Genetic Predisposition to Disease	15	15q22.3-q23	SEMA7A	72489375	72513329			16372136				Semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF069493	Korean		CDC GDP info	8482	Hs.24640			J Hum Genet    2005	Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women		607961		CDC	2005												
153328		thrombosis, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	14	14q32.13	SERPINA10	93819402	93829361			16527896				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016186			CDC GDP info	51156	Hs.118620			Blood    2006	A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis		605271		CDC	2006												
153329	N	fibromuscular dysplasia (FMD)	RENAL	REN	Fibromuscular Dysplasia	14	14q32.1	SERPINA1	93914450	93926782			16531799				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDP info	5265	Hs.525557			J Hypertens    2006    24(4)    705-710	alpha1-antitrypsin gene polymorphisms are not associated with renal arterial fibromuscular dysplasia		107400		CDC	2006	Polymorphisms PiM1, PiZ and PiS of the AAT gene are not associated with renal FMD or infraclinical carotid lesions detected by echotracking methods.											
153330		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Lee, P. L.  et al. 2006	16608528				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		California	CDC GDP info	5265	Hs.525557			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		107400		CDC	2006												
153331	Y	lung function	INFECTION	INF	Bacterial Infections|Cystic Fibrosis	14	14q32.1	SERPINA1	93914450	93926782		Courtney, J. M.  et al. 2006	16617455				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Irish		CDC GDP info	5265	Hs.525557			Pediatr Pulmonol    2006	Association of improved pulmonary phenotype in irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin		107400		CDC	2006												
153332		pancreatitis, acute pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease|Recurrence	14	14q32.1	SERPINA1	93914450	93926782		Sobczynska-Tomaszewska, A.  et al. 2006	16954950				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3			CDC GDP info	5265	Hs.525557			J Pediatr Gastroenterol Nutr    2006    43(3)    299-306	Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis		107400		CDC	2006	PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease.											
153333		lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms|alpha 1-Antitrypsin Deficiency	14	14q32.1	SERPINA1	93914450	93926782		Topic, A. S.  et al. 2006	16971227				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	Serbian	Yugoslavia	CDC GDP info	5265	Hs.525557			Arch Med Res    2006    37(7)    866-70	Association of moderate alpha-1 antitrypsin deficiency with lung cancer in the serbian population		107400		CDC	2006	Our findings provide evidence of an association between AAT phenotypes with moderate deficiency and squamous cell lung cancer.											
153334			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	14	14q32.1	SERPINA1	93914450	93926782		Hoppe, B.  et al. 2006	17003923				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3	German		CDC GDP info	5265	Hs.525557			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		107400		CDC	2006												
153336	N	intracerebral hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Genetic Predisposition to Disease|Hemorrhage	14	14q32.1	SERPINA3	94128146	94160143			16424370				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Polish		CDC GDP info	12	Hs.534293			Stroke    2006	SERPINA3 Polymorphism Is Not Associated With Primary Intracerebral Hemorrhage in a Polish Population		107280		CDC	2006	We failed to find an association between SERPINA3 A/T polymorphism and PICH in a Polish population.											
153337		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Valdes, A. M.  et al. 2006	16453284				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4		Great Britain	CDC GDP info	12	Hs.534293			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		107280		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
153338	N	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Subarachnoid Hemorrhage|Aneurysm, Ruptured|Genetic Predisposition to Disease	14	14q32.1	SERPINA3	94128146	94160143		Krischek, B.  et al. 2006	16968986				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4	Polish		CDC GDP info	12	Hs.534293			Cerebrovasc Dis    2006    23(1)    46-49	The Alanine/Threonine Polymorphism of the Alpha-1-Antichymotrypsin (SERPINA3) Gene and Ruptured Intracranial Aneurysms in the Japanese Population		107280		CDC	2006	In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.											
153339		prostate cancer	CANCER	CAN	Prostatic Neoplasms	18	18q21.3	SERPINB10	59689905	59753456		Shioji, G.  et al. 2005	16172807				Serpin peptidase inhibitor, clade B (ovalbumin), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005024			CDC GDP info	5273	Hs.158339			J Hum Genet    2005    50(10)    507-15	Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer		602058		CDC	2005												
153340	Y	preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Premature Birth|Infant, Premature, Diseases	18	18q21.3	SERPINB2	59689905	59753456		Gibson, C. S.  et al. 2007	17267840				Serpin peptidase inhibitor, clade B (ovalbumin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC012609		South Australia	CDC GDP info	5055	Hs.594481			Obstet Gynecol    2007    109(2)    384-391	Genetic Polymorphisms and Spontaneous Preterm Birth		173390		CDC	2007	We confirm previous observations that variants of the beta adrenergic receptor and of nitric oxide synthase are associated with prematurity, and suggest that genetic variants of the placental antifibrinolytic plasminogen activator inhibitor-2, and thrombomodulin and alpha adducin may be contributors to risk of spontaneous preterm birth. LEVEL OF EVIDENCE: II											
153341		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Proteinuria|Hypertension|Disease Progression|Genetic Predisposition to Disease	18	18q21.33	SERPINB7	59571256	59623584		Xia, Y.  et al. 2006	16431886			3' untranslated region	Serpin peptidase inhibitor, clade B (ovalbumin), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641156		China	CDC GDP info	8710	Hs.138202			Nephrol Dial Transplant    2006	Association of MEGSIN 2093C-2180T haplotype at the 3' untranslated region with disease severity and progression of IgA nephropathy				CDC	2006	In this Chinese population, the 2093C-2180T haplotype at the 3\UTR of MEGSIN gene is associated with more severe forms of IgAN, and more rapid disease progression. This provides further evidence for the involvement of genetic variations of MEGSIN in the pathogenesis of IgAN.											
153342	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression|Genetic Predisposition to Disease	18	18q21.33	SERPINB7	59571256	59623584		Xia, Y. F.  et al. 2006	16550745	SERPINB7  A23167G			Serpin peptidase inhibitor, clade B (ovalbumin), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641156		China	CDC GDP info	8710	Hs.138202			Clin Nephrol    2006    65(3)    153-9	A family-based association study of megsin A23167G polymorphism with susceptibility and progression of IgA nephropathy in a Chinese population				CDC	2006	The polymorphism of megsin A23167G is associated with$$$ susceptibility and progression of IgA nephropathy in Chinese population.											
153343		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA	18	18q21.33	SERPINB7	59571256	59623584		Wang, Z. H.  et al. 2006	16796905				Serpin peptidase inhibitor, clade B (ovalbumin), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641156			CDC GDP info	8710	Hs.138202			Zhonghua Yi Xue Za Zhi    2006    86(19)    1337-41	Association of single nucleotide polymorphism of megsin gene with IgA nephropathy.				CDC	2006	267G/A in megsin gene is associated with IgAN susceptibility. AG and AA genotypes are the risk factors of pathogenesis of IgAN.											
153345	N	longevity	AGING	AGE		7	7q21.3-q22	SERPINE1	100557104	100568431		Lottermoser, K.  et al. 2001	11466544	SERPINE1 4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Mol Med    2001    79(5/6)    289-293	The plasminogen activator inhibitor 1 4G/5G polymorphism is not associated with longevity		173360		CDC	2001												
153346			CARDIOVASCULAR	CARD	Cardiovascular Diseases	7	7q21.3-q22	SERPINE1	100557104	100568431		Moral, P.  et al. 2003	14746139				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	European		CDC GDP info	5054	Hs.414795			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		173360		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
153347		prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.3-q22	SERPINE1	100557104	100568431		Shioji, G.  et al. 2005	16172807				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Hum Genet    2005    50(10)    507-15	Nucleotide variations in genes encoding plasminogen activator inhibitor-2 and serine proteinase inhibitor B10 associated with prostate cancer		173360		CDC	2005												
153348	Y	asthma, dust mite-sensitive	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431			16409202			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Allergy    2006    61(2)    234-8	The -675 4G/5G plasminogen activator inhibitor-1 promoter polymorphism in house dust mite-sensitive allergic asthma patients		173360		CDC	2006	These results support the hypothesis linking the 4G/4G PAI-1 genotype with an increased risk of allergic asthma, bronchial hyperreactivity, and increased tsIgE levels.											
153349	Y	albuminuria retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431			16416371			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Austria	CDC GDP info	5054	Hs.414795			Wien Klin Wochenschr    2005    117(19-20)    707-10	PAI-1 4G/5G insertion/deletion promoter polymorphism and microvascular complications in type 2 diabetes mellitus		173360		CDC	2005	According to our results, diabetic proliferative retinopathy might be associated with the prevalence of PAI-1 genotype 4G/4G.											
153350	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431			16424345	SERPINE1  rs2227631 A allele and rs1799889 4G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Arterioscler Thromb Vasc Biol    2006	Plasminogen Activator Inhibitor-1 Gene. Selection of Tagging SNPs and Association With Coronary Heart Disease	rs2227631 A allele and rs1799889	173360		CDC	2006	This study identified a significant interaction between PAI-1 gene and smoking status. Both single locus and haplotype analyses indicated that rs2227631 A allele and rs1799889 4G allele increased the risk of CHD among nonsmokers in Chinese.		smoking (tobacco)									
153352		preeclampsia	REPRODUCTION	REP		7	7q21.3-q22	SERPINE1	100557104	100568431		Wiwanitkit, V.  et al. 2006	16444532				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Arch Gynecol Obstet    2006        1-3	Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia		173360		CDC	2006												
153353		platelet inhibition	PHARMACOGENOMIC	PHARM	Coronary Artery Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Cooke, G. E.  et al. 2006	16458133				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Am Coll Cardiol    2006    47(3)    541-6	Effect of platelet antigen polymorphism on platelet inhibition by aspirin, clopidogrel, or their combination		173360		CDC	2006	The combination of ASA and clopidogrel appears superior to either agent alone in inhibiting platelet function.		aspirin clopidogrel									
153354		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Falkowski, A.  et al. 2005	16466010				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		173360		CDC	2005			streptokinase									
153355	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Taymaz, H.  et al. 2006	16472842				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish		CDC GDP info	5054	Hs.414795			Thromb Res    2006	Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population		173360		CDC	2006	Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population.											
153356		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Abortion, Spontaneous|Insulin Resistance	7	7q21.3-q22	SERPINE1	100557104	100568431		Glueck, C. J.  et al. 2006	16483878				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Metabolism    2006    55(3)    345-52	Plasminogen activator inhibitor activity, 4G5G polymorphism of the plasminogen activator inhibitor 1 gene, and first-trimester miscarriage in women with polycystic ovary syndrome		173360		CDC	2006												
153357		dyslipidemia hypertension	METABOLIC	MET	Hypertension|Dyslipidemias	7	7q21.3-q22	SERPINE1	100557104	100568431		Nowakowska, A.  et al. 2005	16496609			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Ann Acad Med Stetin    2005    51(1)    95-105	The influence of I/D polymorphism of the angiotensin I converting enzyme (ACE) gene and 4G/5G polymorphism of plasminogen activator inhibitor (PAI-1) gene promoter on the haemostatic system in patients with essential hypertension and dyslipidemia		173360		CDC	2005	The results led to the following											
153358		preeclampsia	REPRODUCTION	REP		7	7q21.3-q22	SERPINE1	100557104	100568431		Wiwanitkit, V.  et al. 2006	16502012				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Arch Gynecol Obstet    2006    273(6)    322-4	Correlation between plasminogen activator inhibitor-1 4G/5G polymorphism and pre-eclampsia		173360		CDC	2006	The overall frequencies of 4G allele for the patients and controls are 49.											
153359	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	7	7q21.3-q22	SERPINE1	100557104	100568431		Leipold, H.  et al. 2006	16507937	5G allele			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Obstet Gynecol    2006    107(3)    651-6	Plasminogen activator inhibitor 1 gene polymorphism and gestational diabetes mellitus		173360		CDC	2006	Homozygosity for the 5G allele of the plasminogen activator inhibitor 1 gene is associated with normal glucose tolerance in pregnant women.											
153360	Y	encephalopathy stroke	NEUROLOGICAL	NEUR	Brain Ischemia	7	7q21.3-q22	SERPINE1	100557104	100568431		Sirgo, G.  et al. 2006	16508752	4G/4G genotype			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Intensive Care Med    2006	Association between 4G/5G polymorphism of the plasminogen activator inhibitor 1 gene with stroke or encephalopathy after cardiac surgery		173360		CDC	2006	The 4G/4G genotype can increase the risk of thromboembolic neurological complications after cardiac surgery with cardiopulmonary by-pass. The neurological complications result in longer time on ventilator and longer hospital stay.											
153362		IVF implantation failure	HEMATOLOGICAL	HEM	Thrombophilia|Recurrence	7	7q21.3-q22	SERPINE1	100557104	100568431		Coulam, C. B.  et al. 2006	16569320				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Reprod Biomed Online    2006    12(3)    322-7	Multiple thrombophilic gene mutations are risk factors for implantation failure		173360		CDC	2006												
153363	N	dementia, vascular	PSYCH	PSY	Dementia, Vascular	7	7q21.3-q22	SERPINE1	100557104	100568431		Kim, Y.  et al. 2006	16603315				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Neurosci Lett    2006	Sequence variants of ACE, AGT, AT1R, and PAI-1 as genetic risk factors for vascular dementia		173360		CDC	2006												
153364		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Coulam, C. B.  et al. 2006	16635210				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		173360		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
153365	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Neoplasm Recurrence, Local	7	7q21.3-q22	SERPINE1	100557104	100568431		Li, H.  et al. 2006	16703752			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		CDC GDP info	5054	Hs.414795			Clin Oncol (R Coll Radiol)    2006    18(4)    333-7	Plasminogen activator inhibitor-1 promoter polymorphism is not associated with the aggressiveness of disease in prostate cancer		173360		CDC	2006												
153366	N	plasminogen activators inhibitor type 1 concentration	PHARMACOGENOMIC	PHARM	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Mlynarska, A.  et al. 2006	16706983				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Thromb Haemost    2006    4(6)    1361-6	Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene		173360		CDC	2006	Our study revealed that a rebound effect is observed in PAI-1 activity (ActPAI-1) and PAI-1 antigen (AgPAI-1) concentration after standard streptokinase treatment with maximal values of 3 h (t3) after the completion of streptokinase infusion. Both ActPAI-1 and AgPAI-1 were significantly higher at t3 compared to the levels before fibrinolytic treatment: 37.3 (20.0-67.7) vs. 10.0 (3.6-26.0) IU L(-1); P = 0.00001 and 29.9 (15.6-42.3) vs. 20.9 (13.0-30.2) ng mL(-1); P = 0.001, respectively. The stratification of the patients by genotype revealed that carriers of the 4G allele had higher concentrations of PAI-1 antigen 3 h after streptokinase infusion: 30.9 vs. 13.8 ng mL(-1); P = 0.019. No significant association between PAI-1 activity and genotype was found. In 		fibrinolytic therapy									
153367	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Vairaktaris, E.  et al. 2006	16730474				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Oral Oncol    2006	Plasminogen activator inhibitor-1 polymorphism is associated with increased risk for oral cancer		173360		CDC	2006												
153368	Y	cholesterol triglycerides	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Boncoraglio, G. B.  et al. 2006	16735791				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Italian		CDC GDP info	5054	Hs.414795			Cerebrovasc Dis    2006    22(2-3)    191-195	An Effect of the PAI-1 4G/5G Polymorphism on Cholesterol Levels May Explain Conflicting Associations with Myocardial Infarction and Stroke		173360		CDC	2006	This finding may explain the involvement of the PAI-1 polymorphism in the clustering of atherothrombotic risk factors, and why people with the 4G/4G genotype are at increased risk for myocardial infarction. Stroke is not so clearly related to hypercholesterolemia and other effects of the 4G/4G genotype (perhaps increased PAI-1 expression) may protect against stroke.											
153369		cholesterol cholesterol, LDL lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.3-q22	SERPINE1	100557104	100568431		Choumerianou, D. M.  et al. 2006	16776623				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Chem Lab Med    2006    44(7)    799-806	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia		173360		CDC	2006	These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.											
153370	P	obesity	METABOLIC	MET	Vascular Diseases|Hyperinsulinism|Metabolic Syndrome X|Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Berberoglu, M.  et al. 2006	16789641				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Pediatr Endocrinol Metab    2006    19(5)    741-8	Plasminogen activator inhibitor-1 (PAI-1) gene polymorphism (-675 4G/5G) associated with obesity and vascular risk in children		173360		CDC	2006	The increasing prevalence of childhood obesity in high socio-economic status is associated with health risks. In obese children with family history of obesity and cardiovascular disease or type 2 diabetes mellitus and in obese children who had any feature of metabolic syndrome, frequency of 4G/4G genotype was more than the 4G/5G and 5G/5G genotypes in the PA		family history									
153371		pulmonary thromboembolism	CARDIOVASCULAR	CARD	Pulmonary Embolism	7	7q21.3-q22	SERPINE1	100557104	100568431		Zhai, Z. G.  et al. 2006	16796899			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Zhonghua Yi Xue Za Zhi    2006    86(19)    1313-7	Relationship between polymorphisms of plasminogen activator inhibitor-1 promoter gene and pulmonary thromboembolism in Chinese Han population.		173360		CDC	2006	The 4G/5G and 4G/4G genotypes are associated with the pathogenesis of PET.T.											
153372	Y	endometriosis	REPRODUCTION	REP	Pain|Infertility|Endometriosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Bedaiwy, M. A.  et al. 2006	16816071				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Obstet Gynecol    2006    108(1)    162-8	Genetic polymorphism in the fibrinolytic system and endometriosis		173360		CDC	2006	Hypofibrinolysis, associated with the 4G allele of the PAI-1 gene, was found significantly more often in women with endometriosis compared with controls. Persistence of fibrin matrix could support the initiation of endometriotic lesions in the peritoneal cavity, explaining why some women with retrograde menstruation develop endometriosis while others do not.											
153373		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Shibata, N.  et al. 2006	16828203				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Hispanic ;Canadian;European		CDC GDP info	5054	Hs.414795			Neurobiol Aging    2006	Association studies between the plasmin genes and late-onset Alzheimer's disease		173360		CDC	2006												
153374		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Hizawa, N.  et al. 2006	16839401				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Exp Allergy    2006    36(7)    872-6	Genetic polymorphisms at FCER1B and PAI-1 and asthma susceptibility		173360		CDC	2006	The present findings suggest a synergistic interaction between FCER1B and PAI-1 genes in asthma susceptibility.											
153375		body mass diabetes, type 2 glucose insulin resistance	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7q21.3-q22	SERPINE1	100557104	100568431		Meigs, J. B.  et al. 2006	16855181				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Obesity (Silver Spring)    2006    14(5)    753-8	PAI-1 Gene 4G/5G Polymorphism and Risk of Type 2 Diabetes in a Population-based Sample		173360		CDC	2006												
153376		nephropathy, IgA	RENAL	REN		7	7q21.3-q22	SERPINE1	100557104	100568431		Ding, R.  et al. 2006	16883539				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    449-51	Relationship between PAI-1 gene 4G/5G polymorphism and clinical profile of IgA nephropathy.		173360		CDC	2006	The data here suggest that the 4G/5G polymorphism of PAI-1 is not a risk factor in IgAN etiology, but may facilitate the process of IgAN to end stage renal disease.											
153377		blood pressure, arterial cholesterol cholesterol, HDL cholesterol, LDL dyslipidemia retinopathy, diabetic triglycerides	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Dyslipidemias	7	7q21.3-q22	SERPINE1	100557104	100568431		Zietz, B.  et al. 2006	16896567				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	German		CDC GDP info	5054	Hs.414795			Med Klin (Munich)    2006    101(8)    605-16	Candidate genes and polymorphism analysis in type 2 diabetes mellitus.		173360		CDC	2006	An accumulation of certain genotypes of candidate genes for diabetes mellitus type 2 is associated with the severity of dyslipidemia and microvascular late complications, e.											
153378	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Loew, M.  et al. 2006	16926677				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	German		CDC GDP info	5054	Hs.414795			Eur J Cardiovasc Prev Rehabil    2006    13(3)    449-56	Genotype combinations of plasminogen activator inhibitor-1 and angiotensin-converting enzyme genes and risk for early onset of coronary heart disease		173360		CDC	2006	The co-existence of the 4G/5G polymorphism of the plasminogen activator inhibitor type 1 gene and the I/D polymorphism of the angiotensin-converting enzyme gene increases the risk for early onset of coronary heart disease in this population.											
153379		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Lazo-Langner, A.  et al. 2006	16931622				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Blood    2006	The risk of dialysis access thrombosis is related to the transforming growth factor-{beta}1 production haplotype and is modified by polymorphisms in the plasminogen activator inhibitor-type 1 gene		173360		CDC	2006												
153380	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Goodman, C. S.  et al. 2006	16938111				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		173360		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
153381	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Thrombophilia	7	7q21.3-q22	SERPINE1	100557104	100568431		Dalmaz, C. A.  et al. 2006	16963292				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Brazil	CDC GDP info	5054	Hs.414795			Blood Cells Mol Dis    2006	Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population		173360		CDC	2006	in the population analyzed, the presence of the genotype risk factors alone does not seem to be associated with the development of preeclampsia even in the severe presentation form.											
153382		atherosclerosis, coronary cardiovascular disease diabetes, type 2 hypertension metabolic syndrome obesity stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Yamada, Y.  et al. 2006	16998253				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Japan	CDC GDP info	5054	Hs.414795			Circ J    2006    70(10)    1240-8	Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke		173360		CDC	2006	Identification of gene polymorphisms that confer susceptibility to cardiovascular diseases or stroke and the development of genetic risk diagnosis systems may contribute to the personalized prevention of these conditions.											
153383			HEMATOLOGICAL	HEM	alpha 1-Antitrypsin Deficiency	7	7q21.3-q22	SERPINE1	100557104	100568431		de Serres, F. J.  et al. 2006	17005586				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Saudi;Asian	Asia	CDC GDP info	5054	Hs.414795			Eur Respir J    2006	Estimation of the numbers and prevalences of the PI*S and PI*Z deficiency alleles of AAT Deficiency in Asia		173360		CDC	2006												
153384		ferritin iron levels liver disease transferrin saturation	METABOLIC	MET	Fatty Liver|Liver Cirrhosis|Siderosis|Iron Overload|Obesity	7	7q21.3-q22	SERPINE1	100557104	100568431		Valenti, L.  et al. 2006	17006922				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Hepatology    2006    44(4)    857-864	alpha1-Antitrypsin mutations in NAFLD		173360		CDC	2006	AAT mutations are associated with hyperferritinemia and sinusoidal iron accumulation, but not with more severe liver damage in NAFLD.											
153385	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	7	7q21.3-q22	SERPINE1	100557104	100568431		Carmichael, S. L.  et al. 2006	17036337				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		173360		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
153386	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Jorgenson, E.  et al. 2006	17044080	SERPINE1  4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		Ohio|Michigan	CDC GDP info	5054	Hs.414795			Prostate    2006	Plasminogen activator inhibitor type-1 (PAI-1) polymorphism 4G/5G is associated with prostate cancer among men with a positive family history		173360		CDC	2006	These observations suggest that the 4G/5G polymorphism in PAI-1 may explain some of the increased risk and earlier mean age of onset of prostate cancer due to a positive family history.											
153387	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Neoplasm Metastasis	7	7q21.3-q22	SERPINE1	100557104	100568431		Zhang, X.  et al. 2006	17062678	SERPINE1 4G/5G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1		China	CDC GDP info	5054	Hs.414795			Clin Cancer Res    2006    12(20)    6037-42	Functional plasminogen activator inhibitor-1 gene variants and breast cancer survival		173360		CDC	2006	The PAI-1 4G/5G polymorphism may be a prognostic marker for young and middle-aged Chinese breast cancer patients.											
153388		sinusitis	IMMUNE	IMM	Sinusitis|Chronic Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		de Alarcon, A.  et al. 2006	17063752			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Am J Rhinol    2006    20(5)    545-9	Expression of leukotriene C4 synthase and plasminogen activator inhibitor 1 gene promoter polymorphisms in sinusitis		173360		CDC	2006	There appears to be a genetic component that contributes to nasal polyp formation in sinusitis.											
153389	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Hubacek, J.A. et al. 2006	17100549				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		CDC GDP info	5054	Hs.414795			Endocr Regul    2006    40(3)    77-81	GENETIC POLYMORPHISMS OF TGF-beta, PAI-1, AND COL1A-1, AND DETERMINATION OF BONE MINERAL DENSITY IN CAUCASIAN FEMALES		173360		CDC	2006												
153390	N	Budd-Chiari syndrome liver transplant portal vein thrombosis	CARDIOVASCULAR	CARD	Liver Cirrhosis|Postoperative Complications	7	7q21.3-q22	SERPINE1	100557104	100568431		Pasta, L.  et al. 2006	17100732				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Transplant    2006    20(6)    796-8	MTHFR C677T homozygous as risk factor for complications after OLT for cryptogenic cirrhosis		173360		CDC	2006												
153391	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Biron-Andreani, C.  et al. 2006	17107352				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		173360		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
153392		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Yilmaz, S.  et al. 2006	17111197				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		173360		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
153393		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Sternlicht, M. D.  et al. 2006	17119035				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2107-14	Prognostic Value of PAI1 in Invasive Breast Cancer		173360		CDC	2006												
153394		cholesterol cholesterol, LDL fibrinogen lipoprotein myocardial infarct nitrate triglycerides	METABOLIC	MET	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Sampaio, M. F.  et al. 2006	17126309				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Chim Acta    2006	AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults		173360		CDC	2006	Our data suggest NOS3 and FGB polymorphisms are associated with AMI.											
153395	Y	fibromatosis, aggressive	CANCER	CAN	Fibromatosis, Aggressive|Adenomatous Polyposis Coli|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Li, C. F.  et al. 2006	17160433			promoter	Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Fam Cancer    2006	An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients		173360		CDC	2006												
153396	N	myocardial infarct plasminogen activator inhibitor type 1 levels stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Ding, J.  et al. 2006	17161063	4G allele			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Am Heart J    2006    152(6)    1109-15	Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma plasminogen activator inhibitor type 1 levels but not with myocardial infarction or stroke		173360		CDC	2006	The 4G allele is associated with higher PAI-1 levels, but this study does not support an association of the PAI gene polymorphisms with the risk of either myocardial infarction or stroke.											
153397		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	7	7q21.3-q22	SERPINE1	100557104	100568431		Powell, J. T.  et al. 2006	17182940				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		173360		CDC	2006												
153398	Y	PAI-1 levels	METABOLIC	MET	Metabolic Syndrome X	7	7q21.3-q22	SERPINE1	100557104	100568431		Martinez-Calatrava, M. J.  et al. 2007	17199731	SERPINE1 4G/4G			Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795	SERPINE1 plasma levels		Diabetes Obes Metab    2007    9(1)    134-5	The 4G/4G PAI-1 genotype is associated with elevated plasma PAI-1 levels regardless of variables of the metabolic syndrome and smoking status. A population-based study in Spanish population		173360		CDC	2007			metabolic syndrome smoking (tobacco)									
153399	N	bone density osteoporosis	METABOLIC	MET	Osteoporosis|Fractures, Bone	7	7q21.3-q22	SERPINE1	100557104	100568431		Hubacek, J.A. et al. 2006	17201588				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Caucasian		CDC GDP info	5054	Hs.414795			Endocr Regul    2006    40(4)    107-12	NO ASSOCIATIONS BETWEEN GENETIC POLYMORPHISMS OF TGFss, PAI-1, AND COL1A1, AND BONE MINERAL DENSITY IN CAUCASIAN FEMALES		173360		CDC	2006												
153400		PAI-1 levels tissue plasminogen activator	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Asselbergs, F. W.  et al. 2007	17207964				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Genomics    2007	Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels		173360		CDC	2007												
153401		fibrinogen protein C resistance ratio prothrombin thrombosis, deep vein	HEMATOLOGICAL	HEM	Thromboembolism|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Komitopoulou, A.  et al. 2006	17230042				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Pathophysiol Haemost Thromb    2006    35(5)    392-397	Mutations and Polymorphisms in Genes Affecting Haemostasis Components in Children with Thromboembolic Events		173360		CDC	2006												
153402		periodontitis	IMMUNE	IMM	Periodontitis, Juvenile|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Emingil, G.  et al. 2007	17257155				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish		CDC GDP info	5054	Hs.414795			J Clin Periodontol    2007	Gene polymorphisms of tissue plasminogen activator and plasminogen activator inhibitor-1 in Turkish patients with generalized aggressive periodontitis		173360		CDC	2007	These data suggest that the D polymorphic allele of TPA gene polymorphism could be associated with susceptibility to G-AgP in Turkish subjects.											
153403	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	7	7q21.3-q22	SERPINE1	100557104	100568431		Martin, R. J.  et al. 2007	17263760				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Diabet Med    2007	Common polymorphisms of the PAI1 gene do not play a major role in the development of diabetic nephropathy in Type 1 diabetes		173360		CDC	2007	It is unlikely that common polymorphisms of thePAI1 gene strongly influence susceptibility to diabetic nephropathy in the White Type 1 diabetic population.											
153404	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Alvarez-Lobos, M.  et al. 2007	17269998				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Aliment Pharmacol Ther    2007    25(4)    429-40	Combined type-1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour		173360		CDC	2007	Combined PAI-1 and NOD2/CARD15 genotyping predict complicated Crohn\s disease. Patients with these variants could benefit from early interventions.											
153405		breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Eroglu, A.  et al. 2006	17309181				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J BUON    2006    11(4)    481-484	Plasminogen activator inhibitor -1 gene 4G/5G polymorphism in patients with breast cancer		173360		CDC	2006	We suggest that this polymorphism may contribute to an inherited predisposition to the development of breast cancer, however further studies with larger series from diverse ethnic populations are needed to confirm our results.											
153406	P		NORMALVARIATION	NV		7	7q21.3-q22	SERPINE1	100557104	100568431		Falchi, A.  et al. 2007	17320454				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Leg Med (Tokyo)    2007	Population genetic data on four STR loci, PAI (CA)(n), GpIIIa (CT)(n), PLAT (TG)(14) (CA)(12), and NOS2A (CCTTT)(n), in Mediterranean populations		173360		CDC	2007												
153407	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Martinez-Calatrava, M. J.  et al. 2007	17351368				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Hypertens    2007    25(4)    773-7	Is the plasminogen activator inhibitor-1 gene a candidate gene predisposing to hypertension? Results from a population-based study in Spain		173360		CDC	2007	Our results show that the 4G/4G PAI-1 genotype appears to be associated with an elevated relative risk of developing arterial hypertension, regardless of PAI-1 levels and other hypertension-related factors, in a representative sample of the Spanish population.											
153408		cardiovascular risk factors PAI-1 levels TNF levels	CARDIOVASCULAR	CARD	Myocardial Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Hong, M. G.  et al. 2007	17356550				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Eur J Hum Genet    2007	Phenotype selection for detecting variable genes		173360		CDC	2007												
153409	N	diabetes, type 2 plasminogen activator inhibitor type 1 levels	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Testa, R.  et al. 2007	17433639				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Nutr Metab Cardiovasc Dis    2007	C-reactive protein is directly related to plasminogen activator inhibitor type 1 (PAI-1) levels in diabetic subjects with the 4G allele at position -675 of the PAI-1 gene		173360		CDC	2007	These findings demonstrate that CRP plays an important role in the complex mechanism regulating PAI-1 antigen in 4G diabetic carriers.		c-reactive protein									
153410		thrombosis, cerebral	CARDIOVASCULAR	CARD	Intracranial Thrombosis	7	7q21.3-q22	SERPINE1	100557104	100568431		Ozyurek, E.  et al. 2007	17456624				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish		CDC GDP info	5054	Hs.414795			Clin Appl Thromb Hemost    2007    13(2)    154-60	Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis		173360		CDC	2007												
153411		metabolic syndrome	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Naran, N. H.  et al. 2007	17467713				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Indian		CDC GDP info	5054	Hs.414795			Atherosclerosis    2007	The influence of metabolic syndrome components on plasma PAI-1 concentrations is modified by the PAI-1 4G/5G genotype and ethnicity		173360		CDC	2007												
153412	Y	lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Gong, R.  et al. 2007	17469143				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Arthritis Rheum    2007    56(5)    1608-1617	Epistatic effect of plasminogen activator inhibitor 1 and beta-Fibrinogen genes on risk of glomerular microthrombosis in lupus nephritis		173360		CDC	2007	Our findings suggest that risk of GMT in lupus nephritis is attributable, at least in part, to an epistatic effect of PAI-1 and FGB genes, likely via an interaction with environmental/clinical factors, such as aCL.											
153413	Y	coagulopathy	HEMATOLOGICAL	HEM	Blood Coagulation Disorders|Postoperative Complications	7	7q21.3-q22	SERPINE1	100557104	100568431		Duggan, E.  et al. 2007	17513622				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Anesth Analg    2007    104(6)    1343-7	Coagulopathy after cardiac surgery may be influenced by a functional plasminogen activator inhibitor polymorphism		173360		CDC	2007	PAI-1 gene expression decreased over time after CPB. We found a link between PAI-1 genotype, PAI gene expression, and transfusion of coagulation products after cardiac surgery.											
153415	Y	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Tsantes, A. E.  et al. 2007	17549286				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Thromb Haemost    2007    97(6)    907-13	Association between the plasminogen activator inhibitor-1 4G/5G polymorphism and venous thrombosis. A meta-analysis		173360		CDC	2007												
153416	N	insulin precocious puberty	METABOLIC	MET		7	7q21.3-q22	SERPINE1	100557104	100568431		Lopez-Bermejo, A.  et al. 2007	17555513				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Endocrinol (Oxf)    2007	Insulin resistance after precocious pubarche		173360		CDC	2007			birth weight body mass									
153417	Y	bone density	METABOLIC	MET	Alveolar Bone Loss|Diabetes Mellitus, Type 2|Chronic Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Decarlo, A. A.  et al. 2007	17559626				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			J Periodontal Res    2007    42(4)    305-10	Association of gene polymorphisms for plasminogen activators with alveolar bone loss		173360		CDC	2007	The urokinase plasminogen activator (BamHI) and plasminogen activator inhibitor type 1 (HindIII) genotypes may serve as useful markers for heritability of bone loss associated with periodontal disease.											
153418	P		NORMALVARIATION	NV		7	7q21.3-q22	SERPINE1	100557104	100568431		Shammaa, D. M.  et al. 2007	17578681				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Mol Biol Rep    2007	Plasminogen Activator Inhibitor-1 (PAI-1) gene 4G/5G alleles frequency distribution in the Lebanese population		173360		CDC	2007												
153420	N	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	7	7q21.3-q22	SERPINE1	100557104	100568431		Gurkan, A.  et al. 2007	17608581				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1	Turkish		CDC GDP info	5054	Hs.414795			J Periodontol    2007    78(7)    1256-1263	Tissue Plasminogen Activator and Plasminogen Activator Inhibitor-1 Gene Polymorphisms in Patients With Chronic Periodontitis		173360		CDC	2007			smoking (tobacco)									
153421	Y	breast cancer	CANCER	CAN		7	7q21.3-q22	SERPINE1	100557104	100568431		Lei, H.  et al. 2007	17616807				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Breast Cancer Res Treat    2007	PAI-1 -675 4G/5G polymorphism as a prognostic biomarker in breast cancer		173360		CDC	2007												
153423	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	2	2q33-q35	SERPINE2	224548077	224612237		Zhu, G.  et al. 2007	17446335				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647459			CDC GDP info	5270	Hs.38449			Am J Respir Crit Care Med    2007	The SERPINE2 Gene is Associated with Chronic Obstructive Pulmonary Disease in Two Large Populations		177010		CDC	2007	These data provide further support for SERPINE2 as a COPD susceptibility gene.											
153424		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	17	17p13	SERPINF2	1592879	1605309		Shibata, N.  et al. 2006	16828203				Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=BC031592	Hispanic ;Canadian;European		CDC GDP info	5345	Hs.159509			Neurobiol Aging    2006	Association studies between the plasmin genes and late-onset Alzheimer's disease		602445		CDC	2006												
153425	Y	premature rupture of membranes	REPRODUCTION	REP	Fetal Membranes, Premature Rupture|Birth Weight	11	11q13.5	SERPINH1	74950817	74961494		Wang, H.  et al. 2006	16938879			promoter	Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK122936	African American;European		CDC GDP info	871	Hs.596449			Proc Natl Acad Sci U S A    2006	A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans				CDC	2006												
153426	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases|Disease Progression	10	10q22.2-q23.1	SFTPA1	81040717	81043975			16429424				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDP info	6435	Hs.523084			Pediatr Pulmonol    2006	Association of Common Haplotypes of Surfactant Protein A1 and A2 (SFTPA1 and SFTPA2) Genes with Severity of Lung Disease in Cystic Fibrosis		178630		CDC	2006												
153427		otitis media	IMMUNE	IMM	Asthma|Otitis Media|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Pettigrew, M. M.  et al. 2006	16884531				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDP info	6435	Hs.523084			BMC Med Genet    2006    7(1)    68	Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma		178630		CDC	2006	These results indicate that polymorphisms within SP-A loci may be associated with otitis media in white infants. Larger confirmatory studies in all ethnic groups are warranted.											
153429		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Pavlovic, J.  et al. 2006	17264398				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3	Greek		CDC GDP info	6435	Hs.523084			Dis Markers    2006    22(5-6)    277-91	Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia		178630		CDC	2006												
153430	N	bronchopulmonary aspergillosis pulmonary aspergillosis	UNKNOWN	UNK	Aspergillosis, Allergic Bronchopulmonary|Chronic Disease|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Vaid, M.  et al. 2007	17311505				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3	Caucasian		CDC GDP info	6435	Hs.523084			Clin Chem Lab Med    2007    45(2)    183-6	Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis		178630		CDC	2007	Distinct alleles, genotypes and genotype combinations of SP-A2 and MBL may contribute to differential susceptibility of the host to CCPA or ABPA.											
153431	P		NORMALVARIATION	NV		10	10q22.2-q23.1	SFTPA1	81040717	81043975		Wang, S. W.  et al. 2007	17343789				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDP info	6435	Hs.523084			Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi    2007    23(3)    226-8	Single nucleotide polymorphisms study of surfactant protein A gene between Tibet Sherpas and Guangdong Chinese Hans.		178630		CDC	2007	There were statistically differences of genotypes and alleles at SP-A2 3265 locus in Hans and Sherpas. SNP in SP-A2 at 3265 may be related to the adaptation of Sherpas to high altitude hypoxia.											
153433	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases|Disease Progression	10	10q22-q23	SFTPA2	80985663	80990156			16429424				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDP info	6436	Hs.535295			Pediatr Pulmonol    2006	Association of Common Haplotypes of Surfactant Protein A1 and A2 (SFTPA1 and SFTPA2) Genes with Severity of Lung Disease in Cystic Fibrosis		178642		CDC	2006												
153434		otitis media	IMMUNE	IMM	Asthma|Otitis Media|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Pettigrew, M. M.  et al. 2006	16884531				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDP info	6436	Hs.535295			BMC Med Genet    2006    7(1)    68	Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma		178642		CDC	2006	These results indicate that polymorphisms within SP-A loci may be associated with otitis media in white infants. Larger confirmatory studies in all ethnic groups are warranted.											
153435	Y	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Jack, D. L.  et al. 2006	17083016	lysine at residue 223			Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDP info	6436	Hs.535295			Clin Infect Dis    2006    43(11)    1426-33	Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease		178642		CDC	2006	Gene polymorphism resulting in the substitution of glutamine with lysine at residue 223 in the carbohydrate recognition domain of SP-A2 increases susceptibility to meningococcal disease, as well as the risk of death.											
153436	Y	bronchopulmonary aspergillosis pulmonary aspergillosis	UNKNOWN	UNK	Aspergillosis, Allergic Bronchopulmonary|Chronic Disease|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Vaid, M.  et al. 2007	17311505				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1	Caucasian		CDC GDP info	6436	Hs.535295			Clin Chem Lab Med    2007    45(2)    183-6	Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis		178642		CDC	2007	Distinct alleles, genotypes and genotype combinations of SP-A2 and MBL may contribute to differential susceptibility of the host to CCPA or ABPA.											
153437		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	10	10q22-q23	SFTPA2	80985663	80990156		Thomas, N. J.  et al. 2007	17524024				Surfactant, pulmonary-associated protein A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006926.1			CDC GDP info	6436	Hs.535295			Acta Paediatr    2007	Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome		178642		CDC	2007	These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS.											
153438		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	2	2p12-p11.2	SFTPB	85737950	85748885		Hersh, C. P.  et al. 2006	16456143				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDP info	6439	Hs.512690			Am J Respir Crit Care Med    2006	Genetic Association Analysis of Functional Impairment in Chronic Obstructive Pulmonary Disease		178640		CDC	2006	Polymorphisms in several genes seem to be associated with COPD-related traits other than FEV(1). These associations may identify genes in pathways important for COPD pathogenesis.											
153439		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn	2	2p12-p11.2	SFTPB	85737950	85748885		Floros, J.  et al. 2006	16549540				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDP info	6439	Hs.512690			Pediatr Res    2006    59(4)    616-21	Family-Based Association Tests Suggest Linkage Between Surfactant Protein B (SP-B) (and Flanking Region) and Respiratory Distress Syndrome (RDS)		178640		CDC	2006												
153440	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Occupational Diseases|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Ewis, A. A.  et al. 2006	16570259				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDP info	6439	Hs.512690			Am J Ind Med    2006	Surfactant protein B gene variations and susceptibility to lung cancer in chromate workers		178640		CDC	2006	These findings indicate a very strong association of the SP-B intron-4 variants with mechanisms that may enhance lung cancer susceptibility, especially in workers who are employed in chromate industry. Moreover, confirmation of such results may help to suggest adding the SP-B intron-4 typing to be one of the screening tests of the pre-placement medical exami		chromate									
153441		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Pavlovic, J.  et al. 2006	17264398				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2	Greek		CDC GDP info	6439	Hs.512690			Dis Markers    2006    22(5-6)    277-91	Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia		178640		CDC	2006												
153442		asthma respiratory syncytial virus	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Asthma|Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Puthothu, B.  et al. 2007	17498296				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2	German		CDC GDP info	6439	Hs.512690			BMC Pulm Med    2007    7(1)    6	Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus associated diseases		178640		CDC	2007	Thus our results indicate a possible involvement of SP-B in the genetic predisposition to severe RSV infections in the German population. In order to determine which of the three polymorphisms constituting the haplotypes is responsible for the association, further case control studies on large populations are necessary. Furthermore, functional analysis need											
153443	N	pulmonary function	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease	2	2p12-p11.2	SFTPB	85737950	85748885		Raleigh, S. M.  et al. 2007	17540055				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDP info	6439	Hs.512690			J Physiol Sci    2007	No Association between Coding Polymorphism within Exon 4 of the Human Surfactant Protein B Gene and Pulmonary Function in Healthy Men		178640		CDC	2007												
153444		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn	2	2p12-p11.2	SFTPB	85737950	85748885		Lyra, P. P.  et al. 2007	17581675				Surfactant, pulmonary-associated protein B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000542.2			CDC GDP info	6439	Hs.512690			Braz J Med Biol Res    2007    40(6)    779-86	Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome		178640		CDC	2007												
153445	N	interstitial pneumonias pulmonary fibrosis	INFECTION	INF	Lung Diseases, Interstitial	8	8p21	SFTPC	22072178	22077936		Markart, P.  et al. 2006	17005585				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2			CDC GDP info	6440	Hs.1074			Eur Respir J    2006	Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias		178620		CDC	2006	mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia.											
153447		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	8	8p21	SFTPC	22072178	22077936		Pavlovic, J.  et al. 2006	17264398				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2	Greek		CDC GDP info	6440	Hs.1074			Dis Markers    2006    22(5-6)    277-91	Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia		178620		CDC	2006												
153448	N	asthma	IMMUNE	IMM	Asthma	10	10q22.2-q23.1	SFTPD	81687475	81698841		Krueger, M.  et al. 2006	16426259				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4		Germany	CDC GDP info	6441	Hs.253495			Pediatr Allergy Immunol    2006    17(1)    77-81	Amino acid variants in Surfactant protein D are not associated with bronchial asthma		178635		CDC	2006												
153450		bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Pavlovic, J.  et al. 2006	17264398				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4	Greek		CDC GDP info	6441	Hs.253495			Dis Markers    2006    22(5-6)    277-91	Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia		178635		CDC	2006												
153451		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Thomas, N. J.  et al. 2007	17524024				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDP info	6441	Hs.253495			Acta Paediatr    2007	Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome		178635		CDC	2007	These data identify protective haplotypes against RDS and support findings related to SP genetic differences in children who develop RDS.											
153452		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21	SGPL1	72245721	72309873		Morgan, A. R.  et al. 2007	17373700				Sphingosine-1-phosphate lyase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB033078			CDC GDP info	8879	Hs.499984			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		603729		CDC	2007												
153453	Y	body fat leptin	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	16	16p11.2	SH2B1	28765510	28793027		Jamshidi, Y.  et al. 2007	17228025				SH2B adaptor protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB037720			CDC GDP info	25970	Hs.15744			Obesity (Silver Spring)    2007    15(1)    5-9	The SH2B Gene is Associated with Serum Leptin and Body Fat in Normal Female Twins				CDC	2007			diet									
153455		mamographic density	CANCER	CAN	Breast Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Warren, R.  et al. 2006	16896040				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2	European		CDC GDP info	6462	Hs.632235			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1502-8	Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women		182205		CDC	2006	mammographic density is largely independent of postmenopausal steroid hormone levels, indicating that these risk factors have, to a large extent, an independent etiology and suggesting that they may be independent predictors of breast cancer risk.											
153456	Y	bone density dihydrotestosterone estradiol sex hormone binding globulin testosterone	METABOLIC	MET		17	17p13-p12	SHBG	7472098	7477395		Eriksson, A. L.  et al. 2006	16926255			promoter	Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDP info	6462	Hs.632235			J Clin Endocrinol Metab    2006	SHBG gene promoter polymorphisms in men are associated with serum SHBG, androgen and androgen metabolite levels and hip BMD		182205		CDC	2006	Our findings demonstrate that polymorphisms in the SHBG promoter predict serum levels of SHBG, androgens, and glucuronidated androgen metabolites, and hip BMD in men.											
153457		sex homone-binding globulin	CANCER	CAN	Breast Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Low, Y. L.  et al. 2006	16982738				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDP info	6462	Hs.632235			Cancer Res    2006    66(18)    8980-8983	Implications of Gene-Environment Interaction in Studies of Gene Variants in Breast Cancer		182205		CDC	2006			isoflavone									
153458	N	sex hormones	PHARMACOGENOMIC	PHARM	Breast Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Abrahamson, P. E.  et al. 2006	17077994				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2	non-Hispanic		CDC GDP info	6462	Hs.632235			Breast Cancer Res Treat    2006	Associations between the CYP17, CYPIB1, COMT and SHBG polymorphisms and serum sex hormones in post-menopausal breast cancer survivors		182205		CDC	2006			tamoxifen									
153459		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Low, Y. L.  et al. 2006	17176215				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2	European	United States	CDC GDP info	6462	Hs.632235			Nutr Cancer    2006    56(1)    31-9	Phytoestrogen exposure, polymorphisms in COMT, CYP19, ESR1, and SHBG genes, and their associations with prostate cancer risk		182205		CDC	2006	were compared with those from 178 healthy men matched by age and date of recruitment.											
153461	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	17	17p13-p12	SHBG	7472098	7477395		Kataoka, N.  et al. 2007	17315164				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2		China	CDC GDP info	6462	Hs.632235			Cancer    2007	Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene		182205		CDC	2007	The current results suggested that the codon 327 Asn allele in the SHBG gene may be related to a reduced risk of endometrial cancer among postmenopausal women.											
153462	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Garcia-Closas, M.  et al. 2007	17411440				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDP info	6462	Hs.632235			BMC Cancer    2007    7(1)    60	Ovarian cancer risk and common variation in the sex hormone-binding globulin gene		182205		CDC	2007	These data do not support a substantial association between common genetic variation in SHBG and ovarian cancer risk.											
153464		nicotine	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	9	9q22.1	SHC3	90817888	90983502		Li, M. D.  et al. 2006	17179996				SHC (Src homology 2 domain containing) transforming protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641139	European		CDC GDP info	53358	Hs.656806			Mol Psychiatry    2006	Linkage and association studies in African- and Caucasian-American populations demonstrate that SHC3 is a novel susceptibility locus for nicotine dependence				CDC	2006												
153465		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	17	17p11.2	SHMT1	18171911	18207581			16447238				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Arthritis Rheum    2006    54(2)    607-12	Risk genotypes in folate-dependent enzymes and their association with methotrexate-related side effects in rheumatoid arthritis		182144		CDC	2006	These data suggest that a composite index of the cumulative risk genotypes in folate-dependent enzymes may be an effective means of profiling RA patients who develop side effects to MTX.											
153467	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	17	17p11.2	SHMT1	18171911	18207581		Boyles, A. L.  et al. 2006	17035141				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3	Caucasian		CDC GDP info	6470	Hs.513987			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		182144		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
153468	Y	preterm delivery small-for-gestational age	REPRODUCTION	REP	Premature Birth|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Engel, S. M.  et al. 2006	17074544				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Am J Obstet Gynecol    2006    195(5)    1231.e1-11	Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small-for-gestational age birth		182144		CDC	2006	Our results suggest the possibility of a direct or indirect role for the SHMT1(1420)T variant in spontaneous preterm or SGA births.		folate									
153469		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	17	17p11.2	SHMT1	18171911	18207581		van den Donk, M.  et al. 2006	17113224				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Cancer Lett    2006	Dietary intake of B-vitamins, polymorphisms in thymidylate synthase and serine hydroxymethyltransferase 1, and colorectal adenoma risk		182144		CDC	2006												
153470		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin	17	17p11.2	SHMT1	18171911	18207581		Lim, U.  et al. 2006	17119116				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Blood    2006	Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma		182144		CDC	2006			Vitamin B6									
153472		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Moore, L. E.  et al. 2007	17311259				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		182144		CDC	2007			diet									
153473		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Lissowska, J.  et al. 2007	17311260				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3		Poland	CDC GDP info	6470	Hs.513987			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		182144		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
153474		lung cancer	CANCER	CAN	Lung Neoplasms	17	17p11.2	SHMT1	18171911	18207581		Wang, L.  et al. 2007	17420066				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3	non-Hispanic		CDC GDP info	6470	Hs.513987			Lung Cancer    2007	Polymorphisms of cytosolic serine hydroxymethyltransferase and risk of lung cancer		182144		CDC	2007			folate methionine									
153476		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	16	16q12	SIAH1	46947775	47039810		Franck, T.  et al. 2006	16752048				Seven in absentia homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647064			CDC GDP info	6477	Hs.696301			J Neural Transm    2006	Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease		602212		CDC	2006												
153477		asthma	IMMUNE	IMM	Asthma	11	11p15.5	SIGIRR	395715	407455		Nakashima, K.  et al. 2006	16432636				Single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK093427			CDC GDP info	59307	Hs.501624			J Hum Genet    2006	An association study of asthma and related phenotypes with polymorphisms in negative regulator molecules of the TLR signaling pathway		605478		CDC	2006												
153479	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Abortion, Spontaneous	11	11q13	SIPA1	65162170	65174965		Crawford, N. P.  et al. 2006	16563182				Signal-induced proliferation-associated gene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB005666	Hispanic Caucasian;non-Hispanic		CDC GDP info	6494	Hs.530477			Breast Cancer Res    2006    8(2)    R16	Germline polymorphisms in SIPA1 are associated with metastasis and other indicators of poor prognosis in breast cancer		602180		CDC	2006	Our findings imply that SIPA1 germline polymorphisms are associated with aggressive disease behavior in the cohort examined.											
153480		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21.3	SIRT1	69314432	69348149		Morgan, A. R.  et al. 2007	17373700				Sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012238.3			CDC GDP info	23411	Hs.369779			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		604479		CDC	2007												
153481	N	schizoaffective disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p23	SIRT5	13682811	13720500		Chowdari, K. V.  et al. 2006	16827919				Sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035196			CDC GDP info	23408	Hs.567431			Genes Brain Behav    2006	DNA pooling		604483		CDC	2006	we propose a multi-stage method for comprehensive, rapid, efficient and economical genetic association analysis that enables simultaneous SNP detection and allele frequency estimation in large samples. This strategy may be particularly useful for research groups lacking access to high throughput genotyping facilities. Our analyses did not yield convincing evidence for associations of schizophrenia with ACSL6 or SIRT5.											
153483		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Freidin, M. B.  et al. 2006	16637265				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Russian	Siberia	CDC GDP info	6556	Hs.591607			Mol Biol (Mosk)    2006    40(2)    252-62	A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians		600266		CDC	2006												
153484	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Hsu, Y. H.  et al. 2006	16638645				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDP info	6556	Hs.591607			J Formos Med Assoc    2006    105(5)    363-9	Association of NRAMP 1 gene polymorphism with susceptibility to tuberculosis in Taiwanese aboriginals		600266		CDC	2006	Genetic variation in NRAMP 1 may affect susceptibility to and increase risk for tuberculosis in Taiwanese aboriginals.											
153485		tuberculosis	INFECTION	INF		2	2q35	SLC11A1	218954995	218969861		Li, H. T.  et al. 2006	16981342				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDP info	6556	Hs.591607			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(5)    428-32	Meta-analysis on NRAMP1 gene polymorphisms and tuberculosis susceptibility in east-asia population		600266		CDC	2006	OR for studies with the polymorphisms of the 3 loci in the NRAMP1 gene was changing along with the accumulation of more data.											
153486		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Silicosis|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861		Qu, Y. B.  et al. 2006	17034726				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDP info	6556	Hs.591607			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(9)    531-3	Relationship between single nucleotide polymorphisms of NRAMP1 gene and susceptibility to pulmonary tuberculosis in workers exposed to silica dusts.		600266		CDC	2006	The G > C mutation of intron 4 of NRAMP1 gene might be a susceptible factor of silica for the workers exposed to PTB.		alcohol silica smoking (tobacco)									
153487		leishmaniasis, visceral	INFECTION	INF	Leishmaniasis, Visceral	2	2q35	SLC11A1	218954995	218969861		El-Safi, S.  et al. 2006	17067929				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3		Sudan	CDC GDP info	6556	Hs.591607			C R Biol    2006    329(11)    863-70	Genes and environment in susceptibility to visceral leishmaniasis		600266		CDC	2006	this study indicates complex interactions between host genes and environment in the spreading of KA in that population.											
153488		silicosis tuberculosis	INFECTION	INF		2	2q35	SLC11A1	218954995	218969861		Qu, Y.  et al. 2007	17223386				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3			CDC GDP info	6556	Hs.591607			Int J Hyg Environ Health    2007	Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners		600266		CDC	2007	the C>T mutation of iNOS Ser608Leu may be an important protective factor to miners. On the other hand, the variant NRAMP1 INT4 may play a role in the development of PTB in Chinese miners. Therefore, the novel information can be used as guideline for further mechanistic investigations and for strengthening specific protection protocols for workers.		dust exposure									
153489	N	Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	2	2q35	SLC11A1	218954995	218969861		Chermesh, I.  et al. 2007	17385031			promoter	Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Ashkenazi;Jewish		CDC GDP info	6556	Hs.591607			Dig Dis Sci    2007	Crohn's Disease and SLC11A1 Promoter Polymorphism		600266		CDC	2007	the difference in SLC11A1 promoter polymorphism plays no role in CD in Ashkenazi Jews.											
153490		diuresis	PHARMACOGENOMIC	PHARM		15	15q15-q21.1	SLC12A1	46285790	46382417		Vormfelde, S. V.  et al. 2007	17460608				Solute carrier family 12 (sodium/potassium/chloride transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000338.1	Caucasian		CDC GDP info	6557	Hs.123116			Clin Pharmacol Ther    2007	Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs		600839		CDC	2007	acute diuretic effects of loop diuretics were affected by genetic variation in sodium transporters that, in the nephron, are located distally from NKCC2.		bumetanide frusemide torsemide									
153491	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Kidney Failure, Chronic	16	16q13	SLC12A3	55456642	55504850		Kim, J. H.  et al. 2006	16505253				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1			CDC GDP info	6559	Hs.369271			Diabetes    2006    55(3)    843-8	SLC12A3 (Solute Carrier Family 12 Member Sodium/Chloride 3) Polymorphisms are associated with end-state renal disease in diabetic nephropathy		600968		CDC	2006												
153492		diuresis	PHARMACOGENOMIC	PHARM		16	16q13	SLC12A3	55456642	55504850		Vormfelde, S. V.  et al. 2007	17460608				Solute carrier family 12 (sodium/chloride transporters), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000339.1	Caucasian		CDC GDP info	6559	Hs.369271			Clin Pharmacol Ther    2007	Genetic Variation in the Renal Sodium Transporters NKCC2, NCC, and ENaC in Relation to the Effects of Loop Diuretic Drugs		600968		CDC	2007	acute diuretic effects of loop diuretics were affected by genetic variation in sodium transporters that, in the nephron, are located distally from NKCC2.		bumetanide frusemide torsemide									
153493		kidney stone disease	RENAL	REN	Kidney Calculi|Recurrence	17	17p13.2	SLC13A2	23824790	23848514		Okamoto, N.  et al. 2007	17470169				Solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK091926			CDC GDP info	9058	Hs.102307			Int J Urol    2007    14(4)    344-9	Associations between renal sodium-citrate cotransporter (hNaDC-1) gene polymorphism and urinary citrate excretion in recurrent renal calcium stone formers and normal controls				CDC	2007	These results suggest that the B allele of I550V polymorphism of hNaDC-1 may be associated with a reduction in urinary citrate excretion and contribute to hypocitraturia in recurrent renal stone formers.											
153494	P		NORMALVARIATION	NV		18	18q11-q12	SLC14A1	41558156	41585297		Yan, L.  et al. 2005	15783300				Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015865.1		China	CDC GDP info	6563	Hs.101307			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		111000		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
153495	Y	hypertension	PHARMACOGENOMIC	PHARM	Hypertension	18	18q12.1-q21.1	SLC14A2	41001970	41517058		Hong, X.  et al. 2007	17344938				Solute carrier family 14 (urea transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007163.2			CDC GDP info	8170	Hs.135642			Methods Find Exp Clin Pharmacol    2007    29(1)    3-10	Genetic polymorphisms of the urea transporter gene are associated with antihypertensive response to nifedipine GITS		601611		CDC	2007	polymorphisms in the SLC14A2 gene can predict the antihypertensive efficacy of nifedipine GITS.		nifedipine									
153497	N	schizophrenia	PSYCH	PSY		8	8p21.3	SLC18A1	20046651	20084997		Richards, M.  et al. 2006	17134514				Solute carrier family 18 (vesicular monoamine), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC006317			CDC GDP info	6570	Hs.158322			Behav Brain Funct    2006    2(1)    39	Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population		193002		CDC	2006	We failed to replicate the previously reported association of Pro4Thr of the VMAT1 gene with schizophrenia.											
153499		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2	SLC18A3	50488352	50490772		Morgan, A. R.  et al. 2007	17373700				Solute carrier family 18 (vesicular acetylcholine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003055			CDC GDP info	6572	Hs.534349			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		600336		CDC	2007												
153500	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	21	21q22.3	SLC19A1	45759056	45786779		Chung, H. H.  et al. 2006	16875718				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		600424		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
153501	Y	oxidative stress	METABOLIC	MET	Autistic Disorder	21	21q22.3	SLC19A1	45759056	45786779		James, S. J.  et al. 2006	16917939				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Am J Med Genet B Neuropsychiatr Genet    2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism		600424		CDC	2006												
153502	Y	esophageal cancer stomach cancer	CANCER	CAN	Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Wang, L.  et al. 2006	16962770	SLC19A1  G80A			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Eur J Cancer    2006	Reduced folate carrier gene G80A polymorphism is associated with an increased risk of gastroesophageal cancers in a chinese population		600424		CDC	2006			alcohol smoking (tobacco)									
153503	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	21	21q22.3	SLC19A1	45759056	45786779		Boyles, A. L.  et al. 2006	17035141				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Caucasian		CDC GDP info	6573	Hs.84190			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		600424		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
153505		gastrointestinal toxicity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute|Drug Toxicity	21	21q22.3	SLC19A1	45759056	45786779		Kishi, S.  et al. 2007	17264302				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Blood    2007	Ancestry and pharmacogenetics of antileukemic drug toxicity		600424		CDC	2007			chemotherapy									
153506		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Moore, L. E.  et al. 2007	17311259				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		600424		CDC	2007			diet									
153508		methotrexate toxicity	PHARMACOGENOMIC	PHARM		21	21q22.3	SLC19A1	45759056	45786779		Pakakasama, S.  et al. 2007	17323057				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Ann Hematol    2007	Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia		600424		CDC	2007												
153509		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	21	21q22.3	SLC19A1	45759056	45786779		Chatzikyriakidou, A.  et al. 2007	17404734				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.84190			Rheumatol Int    2007	Transcription regulatory polymorphism -43T>C in the 5'-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy		600424		CDC	2007			methotrexate									
153510	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	9	9p24.2	SLC1A1	4480443	4577469		Arnold, P. D.  et al. 2006	16818866				glutamate transporter gene solute	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=66773029			CDC GDP info	6505	Hs.444915			Arch Gen Psychiatry    2006    63(7)    769-776	Glutamate Transporter Gene SLC1A1 Associated With Obsessive-compulsive Disorder		133550		CDC	2006	Although requiring replication in larger samples, these findings provide preliminary evidence that sequence variation in SLC1A1 is associated with susceptibility to OCD, particularly in males.											
153511		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	9	9p24.2	SLC1A1	4480443	4577469		Deng, X.  et al. 2007	17221839				glutamate transporter gene solute	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=66773029			CDC GDP info	6505	Hs.444915			Am J Med Genet B Neuropsychiatr Genet    2007	Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia		133550		CDC	2007												
153513		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5p13	SLC1A3	36642447	36645156		Deng, X.  et al. 2007	17221839				Solute carrier family 1 (glial high affinity glutamate transporter), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004172			CDC GDP info	6507	Hs.481918			Am J Med Genet B Neuropsychiatr Genet    2007	Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia		600111		CDC	2007												
153514	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	2	2p15-p13	SLC1A4	65070097	65104503		Skowronek, M. H.  et al. 2006	17106422				Solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK126636	German		CDC GDP info	6509	Hs.654352			Psychiatr Genet    2006    16(6)    233-234	No association between genetic variants at the ASCT1 gene and schizophrenia or bipolar disorder in a German sample		600229		CDC	2006												
153515		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	19	19p13.12	SLC1A6	14921990	14951505		Deng, X.  et al. 2007	17221839				Solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209199			CDC GDP info	6511	Hs.515217			Am J Med Genet B Neuropsychiatr Genet    2007	Association study of polymorphisms in the glutamate transporter genes SLC1A1, SLC1A3, and SLC1A6 with schizophrenia				CDC	2007												
153516		left ventricular function	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Hypertension	2	2q11-q14	SLC20A1	113119997	113137871		Meyers, K. J.  et al. 2007	17339538				Solute carrier family 20 (phosphate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005415			CDC GDP info	6574	Hs.187946			Hypertension    2007	Genetic Variations Associated With Echocardiographic Left Ventricular Traits in Hypertensive Blacks		137570		CDC	2007												
153518			NORMALVARIATION	NV		6	6q26	SLC22A1	160462852	160499740		Kang, H. J.  et al. 2007	17220237				Solute carrier family 22 (organic cation transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003057.2	Chinese;Korean;Vietnamese		CDC GDP info	6580	Hs.117367			Drug Metab Dispos    2007	IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF GENETIC VARIANTS OF HUMAN ORGANIC CATION TRANSPORTERS (hOCTs) IN A KOREAN POPULATION		602607		CDC	2007												
153519	Y	gout	METABOLIC	MET	Gout|Genetic Predisposition to Disease	11	11q13.1	SLC22A12	64114857	64126396		Vazquez-Mellado, J.  et al. 2006	16837472				Solute carrier family 22 (organic anion/cation transporter), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144585.2			CDC GDP info	116085	Hs.174424			Rheumatology (Oxford)    2006	Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout		607096		CDC	2006	We found several mutations in SLC22A12 gene associated with primary gout, the definite role of these mutations in URAT1 activity needs to be further studied.											
153521		doxorubicin pharmacokinetics	PHARMACOGENOMIC	PHARM		6	6q22.1|6q21-q22.1	SLC22A16	110852600	110904537		Lal, S.  et al. 2007	17559346				Solute carrier family 22 (organic cation transporter), member 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB055798	Chinese;Caucasian;Indian;Asian		CDC GDP info	85413	Hs.520319			Pharmacogenomics    2007    8(6)    567-575	Novel SLC22A16 polymorphisms and influence on doxorubicin pharmacokinetics in Asian breast cancer patients		608276		CDC	2007	Among the four novel SLC22A16 polymorphisms identified, the c.											
153522	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		6	6q26	SLC22A2	160512082	160599949		Katz, D. A.  et al. 2006	16513443				Solute carrier family 22 (organic cation transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003058.2			CDC GDP info	6582	Hs.436385			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		602608		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
153524		metformin efficacy	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	6	6q26	SLC22A2	160512082	160599949		Shikata, E.  et al. 2006	17111267				Solute carrier family 22 (organic cation transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003058.2			CDC GDP info	6582	Hs.436385			J Hum Genet    2006	Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin		602608		CDC	2006												
153525	P		NORMALVARIATION	NV		6	6q26	SLC22A2	160512082	160599949		Kang, H. J.  et al. 2007	17220237				Solute carrier family 22 (organic cation transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003058.2	Chinese;Korean;Vietnamese		CDC GDP info	6582	Hs.436385			Drug Metab Dispos    2007	IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF GENETIC VARIANTS OF HUMAN ORGANIC CATION TRANSPORTERS (hOCTs) IN A KOREAN POPULATION		602608		CDC	2007												
153526	Y	methamphetamine dependence substance abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	6	6q26-q27	SLC22A3	160689414	160796004		Aoyama, N.  et al. 2006	17010131				Solute carrier family 22 (extraneuronal monoamine transporter), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640965			CDC GDP info	6581	Hs.567337			Alcohol Clin Exp Res    2006    30(10)    1644-9	Association Between Gene Polymorphisms of SLC22A3 and Methamphetamine Use Disorder		604842		CDC	2006	These results suggest that polymorphisms of SLC22A3 are related to the development of polysubstance use in Japanese patients with MAP dependence.											
153527		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Gazouli, M.  et al. 2005	16437728				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Greek		CDC GDP info	6583	Hs.310591			World J Gastroenterol    2005    11(47)    7525-30	Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease		604190		CDC	2005	Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population.											
153528		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q23.3	SLC22A4	131658043	131707798		Palmieri, O.  et al. 2006	16441470				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			Aliment Pharmacol Ther    2006    23(4)    497-506	Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis		604190		CDC	2006	Organic cation transporter gene cluster variants may confer susceptibility to both CD and UC, and the TC haplotype may influence some clinical features of IBD, but does not interact with CARD15 variants.											
153529		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Russell, R. K.  et al. 2006	16469794				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Scottish		CDC GDP info	6583	Hs.310591			Gut    2006	Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth parameters in early-onset inflammatory bowel disease		604190		CDC	2006	These data implicate variants within the IBD5 haplotype, as determinants of disease susceptibility and growth indices in early onset IBD.											
153530		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Friberg, C.  et al. 2006	16484987				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			J Invest Dermatol    2006    126(5)    998-1002	Analysis of chromosome 5q31-32 and psoriasis		604190		CDC	2006												
153531		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798			16519742				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Caucasian;New Zealand		CDC GDP info	6583	Hs.310591			Immunol Cell Biol    2006    84(2)    233-6	Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort		604190		CDC	2006												
153532		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798			16519819				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		604190		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
153533	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Martinez, A.  et al. 2006	16652416				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			J Rheumatol    2006    33(5)    842-6	Role of SLC22A4, SLC22A5, and RUNX1 Genes in Rheumatoid Arthritis		604190		CDC	2006	The SLC22A4 and RUNX1 polymorphisms described as etiological in the Japanese study did not show a significant role in RA susceptibility in our population.											
153534	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q23.3	SLC22A4	131658043	131707798		Ferraris, A.  et al. 2006	16670523				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Italian		CDC GDP info	6583	Hs.310591			Inflamm Bowel Dis    2006    12(5)    355-361	Relationship Between CARD15, SLC22A4/5, and DLG5 Polymorphisms and Early-Onset Inflammatory Bowel Diseases		604190		CDC	2006	Our results demonstrate that in the Italian population, the major CARD15 polymorphisms are associated with susceptibility to early-onset CD and with ileal involvement and suggest a previously unreported association with very early-onset, severe UC.											
153535	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Babusukumar, U.  et al. 2006	16771961				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Caucasian		CDC GDP info	6583	Hs.310591			Am J Gastroenterol    2006    101(6)    1354-61	Contribution of OCTN Variants Within the IBD5 Locus to Pediatric Onset Crohn's Disease		604190		CDC	2006	We confirm the association of the OCTN variants (SLC22A4 and SLC22A5) in pediatric onset CD as seen in adult CD cohorts.											
153536		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Santiago, J. L.  et al. 2006	16796743				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			BMC Med Genet    2006    7(1)    54	Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes		604190		CDC	2006	The haplotype distribution in the carnitine transporter locus seems to be significantly different between T1D patients and controls; however, additional studies in independent populations would allow to confirm the role of these genes in T1D risk.											
153537	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Orozco, G.  et al. 2006	16821265				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Spanish;Japanese;Caucasian	Spain	CDC GDP info	6583	Hs.310591			J Rheumatol    2006    33(7)    1235-1238	SLC22A4, RUNX1, and SUMO4 Polymorphisms Are Not Associated with Rheumatoid Arthritis		604190		CDC	2006	These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population.											
153539	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Karlsen, T. H.  et al. 2006	17100974				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	European;Scandinavian	Scandinavia	CDC GDP info	6583	Hs.310591			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		604190		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
153540		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Silverberg, M. S.  et al. 2007	17213842				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Ashkenazi;Jewish		CDC GDP info	6583	Hs.310591			Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		604190		CDC	2007												
153541		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Torkvist, L.  et al. 2007	17340776				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2		Sweden	CDC GDP info	6583	Hs.310591			Scand J Gastroenterol    2007    42(2)    200-6	Contribution of the IBD5 locus to Crohn's disease in the Swedish population		604190		CDC	2007	The IBD5 locus is associated with$$$ CD in the Swedish population.											
153543	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	5	5q23.3	SLC22A4	131658043	131707798		Cucchiara, S.  et al. 2007	17451203				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Italian		CDC GDP info	6583	Hs.310591			World J Gastroenterol    2007    13(8)    1221-1229	Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases		604190		CDC	2007	Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD.											
153544	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		de Ridder, L.  et al. 2007	17476680	rs3792876 in SLC22A4/5			Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			Inflamm Bowel Dis    2007	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease	rs3792876	604190		CDC	2007	Polymorphisms 3020insC in CARD15 and SNP rs3792876 in SLC22A4/5 occurred statistically significantly more often in patients with pediatric-onset CD than in patients with adult-onset CD. Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort.(Inflamm Bowel Dis 2007).											
153545		perianal disease	OTHER	OTH	Crohn Disease|Anus Diseases	5	5q23.3	SLC22A4	131658043	131707798		Karban, A.  et al. 2007	17509030				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	Ashkenazi;Israeli;Jewish		CDC GDP info	6583	Hs.310591			Am J Gastroenterol    2007	Risk Factors for Perianal Crohn's Disease		604190		CDC	2007	The strongest factor associated with PD is rectal inflammation.											
153547		gabapentin clearance	PHARMACOGENOMIC	PHARM		5	5q23.3	SLC22A4	131658043	131707798		Urban, T. J.  et al. 2007	17609685				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			Clin Pharmacol Ther    2007	Effects of Genetic Variation in the Novel Organic Cation Transporter, OCTN1, on the Renal Clearance of Gabapentin		604190		CDC	2007												
153548		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Gazouli, M.  et al. 2005	16437728				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Greek		CDC GDP info	6584	Hs.443572			World J Gastroenterol    2005    11(47)    7525-30	Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease		603377		CDC	2005	Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population.											
153549		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	5	5q31	SLC22A5	131733342	131759202		Palmieri, O.  et al. 2006	16441470				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			Aliment Pharmacol Ther    2006    23(4)    497-506	Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis		603377		CDC	2006	Organic cation transporter gene cluster variants may confer susceptibility to both CD and UC, and the TC haplotype may influence some clinical features of IBD, but does not interact with CARD15 variants.											
153550		Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Hypersensitivity, Immediate|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Russell, R. K.  et al. 2006	16469794				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Scottish		CDC GDP info	6584	Hs.443572			Gut    2006	Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth parameters in early-onset inflammatory bowel disease		603377		CDC	2006	These data implicate variants within the IBD5 haplotype, as determinants of disease susceptibility and growth indices in early onset IBD.											
153551		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Friberg, C.  et al. 2006	16484987				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			J Invest Dermatol    2006    126(5)    998-1002	Analysis of chromosome 5q31-32 and psoriasis		603377		CDC	2006												
153552		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202			16519742				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Caucasian;New Zealand		CDC GDP info	6584	Hs.443572			Immunol Cell Biol    2006    84(2)    233-6	Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort		603377		CDC	2006												
153554	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	5	5q31	SLC22A5	131733342	131759202		Ferraris, A.  et al. 2006	16670523				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Italian		CDC GDP info	6584	Hs.443572			Inflamm Bowel Dis    2006    12(5)    355-361	Relationship Between CARD15, SLC22A4/5, and DLG5 Polymorphisms and Early-Onset Inflammatory Bowel Diseases		603377		CDC	2006	Our results demonstrate that in the Italian population, the major CARD15 polymorphisms are associated with susceptibility to early-onset CD and with ileal involvement and suggest a previously unreported association with very early-onset, severe UC.											
153556		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Santiago, J. L.  et al. 2006	16796743				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			BMC Med Genet    2006    7(1)    54	Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes		603377		CDC	2006	The haplotype distribution in the carnitine transporter locus seems to be significantly different between T1D patients and controls; however, additional studies in independent populations would allow to confirm the role of these genes in T1D risk.											
153557		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Fisher, S. A.  et al. 2006	16835882				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	European		CDC GDP info	6584	Hs.443572			Hum Mutat    2006    27(8)    778-785	Direct or indirect association in a complex disease		603377		CDC	2006												
153558	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Karlsen, T. H.  et al. 2006	17100974				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	European;Scandinavian	Scandinavia	CDC GDP info	6584	Hs.443572			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		603377		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
153559		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Silverberg, M. S.  et al. 2007	17213842				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Ashkenazi;Jewish		CDC GDP info	6584	Hs.443572			Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		603377		CDC	2007												
153560		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Torkvist, L.  et al. 2007	17340776				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2		Sweden	CDC GDP info	6584	Hs.443572			Scand J Gastroenterol    2007    42(2)    200-6	Contribution of the IBD5 locus to Crohn's disease in the Swedish population		603377		CDC	2007	The IBD5 locus is associated with$$$ CD in the Swedish population.											
153562	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	5	5q31	SLC22A5	131733342	131759202		Cucchiara, S.  et al. 2007	17451203				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Italian		CDC GDP info	6584	Hs.443572			World J Gastroenterol    2007    13(8)    1221-1229	Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases		603377		CDC	2007	Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD.											
153563	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		de Ridder, L.  et al. 2007	17476680	rs3792876 in SLC22A4/5			Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			Inflamm Bowel Dis    2007	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease	rs3792876	603377		CDC	2007	Polymorphisms 3020insC in CARD15 and SNP rs3792876 in SLC22A4/5 occurred statistically significantly more often in patients with pediatric-onset CD than in patients with adult-onset CD. Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort.(Inflamm Bowel Dis 2007).											
153564		perianal disease	OTHER	OTH	Crohn Disease|Anus Diseases	5	5q31	SLC22A5	131733342	131759202		Karban, A.  et al. 2007	17509030				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Ashkenazi;Israeli;Jewish		CDC GDP info	6584	Hs.443572			Am J Gastroenterol    2007	Risk Factors for Perianal Crohn's Disease		603377		CDC	2007	The strongest factor associated with PD is rectal inflammation.											
153566		preterm delivery	REPRODUCTION	REP	Premature Birth	20	20p13	SLC23A2	4781001	4938939			16357110				Solute carrier family 23 (nucleobase transporters), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_203327			CDC GDP info	9962	Hs.516866			Am J Epidemiol    2005	Genetic Variation in the Sodium-dependent Vitamin C Transporters, SLC23A1, and SLC23A2 and Risk for Preterm Delivery		603791		CDC	2005												
153568	N	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	2	2q24	SLC25A12	172349125	172458979		Rabionet, R.  et al. 2006	16648338				Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003705.2			CDC GDP info	8604	Hs.470608			Am J Psychiatry    2006    163(5)    929-31	Lack of Association Between Autism and SLC25A12		603667		CDC	2006	These results suggest that SLC25A12 is not a major contributor to autism risk in these families.											
153569	N	autism	PSYCH	PSY	Mitochondrial Diseases|Autistic Disorder	2	2q24	SLC25A12	172349125	172458979		Correia, C.  et al. 2006	17151801				Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003705.2			CDC GDP info	8604	Hs.470608			J Autism Dev Disord    2006	Brief Report		603667		CDC	2006	while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autism in this sample of autistic patients.											
153571	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p11.2-q12	SLC25A27	46728637	46753886		Yasuno, K.  et al. 2006	17066476				Solute carrier family 25, member 27	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004277			CDC GDP info	9481	Hs.40510			Am J Med Genet B Neuropsychiatr Genet    2006	Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia				CDC	2006												
153572		ophthalmoplegia Parkinson's disease	NEUROLOGICAL	NEUR	Ophthalmoplegia, Chronic Progressive External|Parkinsonian Disorders|Abnormalities, Multiple	4		SLC25A4	186301391	186305419		Hudson, G.  et al. 2007	17420318				Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	291	Hs.246506			Arch Neurol    2007    64(4)    553-557	Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism		103220		CDC	2007	Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.											
153573	N	juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Genetic Predisposition to Disease	5	5q31-q34	SLC26A2	149320492	149347156		Lamb, R.  et al. 2007	17393463				Solute carrier family 26 (sulfate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000112.3	Caucasian		CDC GDP info	1836	Hs.302738			Arthritis Rheum    2007    56(4)    1286-1291	Positive association of SLC26A2 gene polymorphisms with susceptibility to systemic-onset juvenile idiopathic arthritis		606718		CDC	2007	These findings show the value of using monogenic disease loci as candidates for investigation in JIA.											
153574	Y	enlarged vestibular aqueduct	OTHER	OTH	Hearing Loss, Sensorineural	7	7q31	SLC26A4	107088315	107145488		Madden, C.  et al. 2007	17309986				solute carrier family 26, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000441.1			CDC GDP info	5172	Hs.571246			Arch Otolaryngol Head Neck Surg    2007    133(2)    162-8	The Influence of Mutations in the SLC26A4 Gene on the Temporal Bone in a Population With Enlarged Vestibular Aqueduct		605646		CDC	2007	In a population of pediatric patients with an EVA and hearing loss, SLC26A4 mutations are a contributor to the phenotype.											
153575		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.43	SLC27A5	63682690	63715157		Fisher, E.  et al. 2007	17266179				Solute carrier family 27 (fatty acid transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB208931	European		CDC GDP info	10998	Hs.292177			Mol Nutr Food Res    2007    51(2)    185-191	Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - Role of fat assimilation		603314		CDC	2007												
153576	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.1	SLC2A10	44771685	44798392		Bento, J. L.  et al. 2005	16336637				Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3	Caucasian		CDC GDP info	81031	Hs.305971			BMC Med Genet    2005    6    42	Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes		606145		CDC	2005	sequence variants in or near GLUT10 are unlikely to contribute significantly to T2DM in Caucasian Americans.											
153578	P		NORMALVARIATION	NV		1	1p35-p31.3	SLC2A1	43164105	43197088		Wang, S.  et al. 2007	17591274				Solute carrier family 2 (facilitated glucose transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006516.1			CDC GDP info	6513	Hs.473721			Sheng Wu Yi Xue Gong Cheng Xue Za Zhi    2007    24(2)    425-9	Relationship between adaptation to high altitude hypoxia environment and glucose transport 1 gene polymorphism		138140		CDC	2007												
153580	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Willer, C. J.  et al. 2007	17192490				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			CDC GDP info	6514	Hs.167584			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		138160		CDC	2007												
153581		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	8	8q24.11	SLC30A8	118032398	118258134		Sladek, R.  et al. 2007	17293876				Solute carrier family 30 (zinc transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL713790	French		CDC GDP info	169026	Hs.532270			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes				CDC	2007												
153582		diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	8	8q24.11	SLC30A8	118032398	118258134		Saxena, R. et al.  et al. 2007	17463246				Solute carrier family 30 (zinc transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL713790			CDC GDP info	169026	Hs.532270			Science    2007	Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels				CDC	2007												
153583		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	8	8q24.11	SLC30A8	118032398	118258134		Scott, L. J. et al.  et al. 2007	17463248				Solute carrier family 30 (zinc transporter), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL713790	Finnish		CDC GDP info	169026	Hs.532270			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants				CDC	2007												
153585		SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death	11	11q23.3	SLC37A4	118400273	118406800		Forsyth, L.  et al. 2007	17354259				Solute carrier family 37 (glycerol-6-phosphate transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001467.3			CDC GDP info	2542	Hs.132760			J Pathol    2007	Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome		602671		CDC	2007												
153586		melphalan pharmacokinetics melphalan side effects	PHARMACOGENOMIC	PHARM	Lymphoma, Non-Hodgkin|Multiple Myeloma	11	11q13	SLC3A2	62380093	62412929		Kuhne, A.  et al. 2007	17558306				Solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012661			CDC GDP info	6520	Hs.502769			Pharmacogenet Genomics    2007    17(7)    505-17	Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan		158070		CDC	2007	The study confirmed that these transporter genes are highly conserved, particularly in the coding sequences.											
153587		iron overload	METABOLIC	MET	Hemochromatosis|Iron Metabolism Disorders|Iron Overload	2	2q32	SLC40A1	190133560	190156729		de Diego, C.  et al. 2006	17042772				solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3			CDC GDP info	30061	Hs.529285			Eur J Haematol    2006	H63D homozygotes with hyperferritinaemia		604653		CDC	2006	The lack of additional mutations in our H63D homozygotes suggests that this genotype could be the primary cause of iron overload in these patients.											
153588	N	iron levels	METABOLIC	MET	Hepatitis C, Chronic|Liver Cirrhosis|Hemochromatosis|Iron Overload|Disease Progression|Genetic Predisposition to Disease	2	2q32	SLC40A1	190133560	190156729		Sartori, M.  et al. 2006	17135308				solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3			CDC GDP info	30061	Hs.529285			Gut    2006	Heterozygous {beta} -globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis c		604653		CDC	2006	Heterozygosis for beta-globin mutations is a novel risk factor for both hepatic iron accumulation and the progression to fibrosis in patients with CHC.											
153589	P	ferritin	METABOLIC	MET	Hemochromatosis|Iron Overload	2	2q32	SLC40A1	190133560	190156729		Rivers, C. A.  et al. 2007	17276706				solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3			CDC GDP info	30061	Hs.529285			Blood Cells Mol Dis    2007	Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study		604653		CDC	2007	the frequency of the FPN1 Q248H polymorphism is greater in AA men with elevated SF than in those with normal SF.											
153590		iron levels	METABOLIC	MET	Iron Overload|Genetic Predisposition to Disease	2	2q32	SLC40A1	190133560	190156729		Barton, J. C.  et al. 2007	17490902				solute carrier family 40 (iron-regulated transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014585.3			CDC GDP info	30061	Hs.529285			Blood Cells Mol Dis    2007	SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent		604653		CDC	2007												
153592	Y	skin color variation	NORMALVARIATION	NV		5	5p13.3	SLC45A2	33980477	34020537		Graf, J.  et al. 2007	17358008			promoter	solute carrier family 45, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016180.3	Spanish;African AmericanAustralian;Caucasian		CDC GDP info	51151	Hs.278962			Hum Mutat    2007	Promoter polymorphisms in the MATP (SLC45A2) gene are associated with normal human skin color variation		606202		CDC	2007												
153593		anemia, malarial	HEMATOLOGICAL	HEM	Malaria, Falciparum|Anemia	17	17q21-q22	SLC4A1	39682565	39700993		Kalckreuth, V.  et al. 2006	16960783			promoter	Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000342.1			CDC GDP info	6521	Hs.443948			J Infect Dis    2006    194(7)    949-57	Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality		109270		CDC	2006												
153594		spherocytosis	HEMATOLOGICAL	HEM	Spherocytosis, Hereditary|Genetic Predisposition to Disease	17	17q21-q22	SLC4A1	39682565	39700993		Camacho-Torres, A. L.  et al. 2006	17128827				Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000342.1	Mexican		CDC GDP info	6521	Hs.443948			Gac Med Mex    2006    142(5)    435-7	Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis		109270		CDC	2006	Since there are other genes implicated in the molecular pathology of the HS, we consider it necessary to continue analyzing other polymorphisms of the genes involved in Hereditary Spherocytosis among the Mexican population.											
153595	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q21-q22	SLC4A1	39682565	39700993		Kokubo, Y.  et al. 2006	17137217				Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000342.1			CDC GDP info	6521	Hs.443948			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		109270		CDC	2006												
153597	Y	blood pressure, arterial	CARDIOVASCULAR	CARD		2	2p13	SLC4A5	74292238	74444062			16365189				Solute carrier family 4, sodium bicarbonate cotransporter, member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_133478			CDC GDP info	57835	Hs.656447			Hypertension    2005	Sodium Bicarbonate Cotransporter Polymorphisms Are Associated With Baseline and 10-Year Follow-Up Blood Pressures				CDC	2005												
153598		autonomic-cholinergic function corticolimbic reactivity	NEUROLOGICAL	NEUR		2	2q12	SLC5A7	107969426	107996875		Neumann, S. A.  et al. 2006	16876130				Solute carrier family 5 (choline transporter), member 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021815.2	European		CDC GDP info	60482	Hs.287758			Biol Psychiatry    2006	Human Choline Transporter Gene Variation Is Associated with Corticolimbic Reactivity and Autonomic-Cholinergic Function		608761		CDC	2006	CHT1 variation is related to differences in a distributed corticolimbic circuitry mediating behavioral and physiologic arousal.											
153600	N	blood pressure hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	5	5p15.33	SLC6A18	1278469	1299303			16340170	SLC6A18   nonsense polymorphism (Y319X)			Solute carrier family 6, member 18	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC056757			CDC GDP info	348932	Hs.213284			Tohoku J Exp Med    2006    208(1)    25-31	A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese				CDC	2006												
153601		panic disorder	PSYCH	PSY	Panic Disorder	16	16q12.2	SLC6A2	54247522	54295201			16538182				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Psychiatr Genet    2006    16(2)    59-65	Interaction of serotonergic and noradrenergic gene variants in panic disorder		163970		CDC	2006	This is the first possible interaction of genetic variations in panic disorder that has been observed.											
153602		cognitive function	PSYCH	PSY	Cognition Disorders|Schizophrenia	16	16q12.2	SLC6A2	54247522	54295201		Rybakowski, J. K.  et al. 2006	16712949				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Psychiatry Res    2006	Performance on the Wisconsin Card Sorting Test in schizophrenia and genes of dopaminergic inactivation (COMT, DAT, NET)		163970		CDC	2006												
153603	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	16	16q12.2	SLC6A2	54247522	54295201		Szoke, A.  et al. 2006	16741933				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Am J Med Genet B Neuropsychiatr Genet    2006	Lack of influence of COMT and NET genes variants on executive functions in schizophrenic and bipolar patients, their first-degree relatives and controls		163970		CDC	2006												
153605		attention deficit hyperactivity disorder Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	16	16q12.2	SLC6A2	54247522	54295201		Rippel, C. A.  et al. 2006	16969268				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Psychiatr Genet    2006    16(5)    179-180	Norepinephrine transporter polymorphisms in Tourette syndrome with and without attention deficit hyperactivity disorder		163970		CDC	2006												
153606	N	diabetes, type 2 diabetic nephropathy	METABOLIC	MET	Hypertension, Renal|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	16	16q12.2	SLC6A2	54247522	54295201		Ksiazek, P.  et al. 2006	17124432				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Kidney Blood Press Res    2006    29(6)    338-343	Norepinephrine Transporter Gene (NET) Polymorphism in Patients with Type 2 Diabetes		163970		CDC	2006	No association was found between G1287A polymorphism in the NET gene and diabetes.											
153608	Y	amphetamine response	PHARMACOGENOMIC	PHARM		16	16q12.2	SLC6A2	54247522	54295201		Dlugos, A.  et al. 2007	17239355				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Biol Psychiatry    2007	Norepinephrine Transporter Gene Variation Modulates Acute Response to d-Amphetamine		163970		CDC	2007	Polymorphisms in the SLC6A2 gene were associated with mood responses to D-amphetamine. If confirmed, this observation may contribute to a better understanding of interindividual variations in the clinical response to amphetamine and in the risk of becoming addicted to amphetamine.											
153609	N	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	16	16q12.2	SLC6A2	54247522	54295201		Chang, C. C.  et al. 2007	17353941				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			J Psychiatry Neurosci    2007    32(2)    121-128	Lack of association between the norepinephrine transporter gene and major depression in a Han Chinese population		163970		CDC	2007	This study suggests that the investigated polymorphisms in the NET gene are not major risk factors in increasing susceptibility to either major depression or its clinical subtypes in a Han Chinese population.											
153610	Y	left ventricular fractional shortening	PHARMACOGENOMIC	PHARM		16	16q12.2	SLC6A2	54247522	54295201		Nonen, S.  et al. 2007	17404580				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Pharmacogenomics J    2007	Polymorphisms of norepinephrine transporter and adrenergic receptor alpha(1D) are associated with the response to beta-blockers in dilated cardiomyopathy		163970		CDC	2007			beta blockers									
153611		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Comings, D. E.  et al. 2000	11140838				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		126455		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
153612		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543			16402340				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	No association between VNTR polymorphisms of dopamine transporter gene and attention deficit hyperactivity disorder in Chinese children		126455		CDC	2006	can be drawn about the association in any single ethnicity given the small number of studies.											
153613		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543			16424823				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Indian		CDC GDP info	6531	Hs.406			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		126455		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
153615		cocaine abuse	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	5	5p15.3	SLC6A3	1445908	1498543			16537431				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Proc Natl Acad Sci U S A    2006	A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample		126455		CDC	2006												
153617	Y	smoking behavior	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Timberlake, D. S.  et al. 2006	16569110				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Health Psychol    2006    25(2)    190-7	An association between the DAT1 polymorphism and smoking behavior in young adults from the national longitudinal study of adolescent health		126455		CDC	2006												
153618		attention deficit hyperactivity disorder	PSYCH	PSY	Diseases in Twins|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Mill, J.  et al. 2006	16585476				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	New Zealand		CDC GDP info	6531	Hs.406			Arch Gen Psychiatry    2006    63(4)    462-9	Prediction of heterogeneity in intelligence and adult prognosis by genetic polymorphisms in the dopamine system among children with attention-deficit/hyperactivity disorder		126455		CDC	2006	The findings indicate that genetic information of this nature may prove useful for etiology-based psychiatric nosologies.											
153619		personality traits	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Kim, S. J.  et al. 2006	16604301			promoter	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Korean		CDC GDP info	6531	Hs.406			J Neural Transm    2006	An interaction between the serotonin transporter promoter region and dopamine transporter polymorphisms contributes to harm avoidance and reward dependence traits in normal healthy subjects		126455		CDC	2006												
153620		depressive disorder, major personality disorders	PSYCH	PSY	Depressive Disorder, Major|Personality Disorders|Borderline Personality Disorder	5	5p15.3	SLC6A3	1445908	1498543		Joyce, P. R.  et al. 2006	16623961				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Psychol Med    2006        1-7	A dopamine transporter polymorphism is a risk factor for borderline personality disorder in depressed patients		126455		CDC	2006	This replicated association in depressed patients between the 9-repeat allele of DAT1 and BPD may provide clues to understanding the neurobiology of BPD. The finding that the association is larger in the older depressed patients, suggests that the 9-repeat allele may be associated with a poorer prognosis BPD, rather than a young adult limited variant of BPD.											
153621	N	body mass obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Body Weight	5	5p15.3	SLC6A3	1445908	1498543		Need, A. C.  et al. 2006	16674552				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Ann Hum Genet    2006    70(Pt 3)    293-303	Obesity is Associated with Genetic Variants That Alter Dopamine Availability		126455		CDC	2006												
153623		cognitive function	PSYCH	PSY	Cognition Disorders|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Rybakowski, J. K.  et al. 2006	16712949				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Psychiatry Res    2006	Performance on the Wisconsin Card Sorting Test in schizophrenia and genes of dopaminergic inactivation (COMT, DAT, NET)		126455		CDC	2006												
153624		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Barkley, R. A.  et al. 2006	16741944				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	An examination of the behavioral and neuropsychological correlates of three ADHD candidate gene polymorphisms (DRD4 7,+ DBH TaqI A2, and DAT1 40 bp VNTR) in hyperactive and normal children followed to adulthood		126455		CDC	2006												
153625		attention deficit hyperactivity disorder	PHARMACOGENOMIC	PHARM	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Gilbert, D. L.  et al. 2006	16760197				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Brain    2006	Dopamine transporter genotype influences the physiological response to medication in ADHD		126455		CDC	2006	MPH and ATX have similar effects on SICI in children with ADHD.		atomoxetine methylphenidate									
153626		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Ohadi, M.  et al. 2006	16782077			promoter	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Iranian		CDC GDP info	6531	Hs.406			Brain Res    2006	Attention-deficit/hyperactivity disorder (ADHD) association with the DAT1 core promoter -67 T allele		126455		CDC	2006												
153628	Y	dopamine release	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	5	5p15.3	SLC6A3	1445908	1498543		Brody, A. L.  et al. 2006	16818870				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Arch Gen Psychiatry    2006    63(7)    808-816	Gene Variants of Brain Dopamine Pathways and Smoking-Induced Dopamine Release in the Ventral Caudate/Nucleus Accumbens		126455		CDC	2006	Smokers with genes associated with low resting dopamine tone have greater smoking-induced (phasic) dopamine release than those with alternate genotypes. These findings suggest that dopamine system genotype variabilities explain a significant proportion of the interindividual variability in smoking-induced dopamine release and indicate that smoking-induced dopamine release has a genetic predisposition.		smoking (tobacco)									
153629	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Brookes, K. et al  et al. 2006	16894395				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		126455		CDC	2006												
153630		attention deficit hyperactivity disorder drug hypersensitivity	PHARMACOGENOMIC	PHARM	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Mick, E.  et al. 2006	16917950				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	Absence of association with DAT1 polymorphism and response to methylphenidate in a sample of adults with ADHD		126455		CDC	2006			methylphenidate									
153632		attention deficit hyperactivity disorder methyphenidate side-effects	PHARMACOGENOMIC	PHARM	Tics|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		McGough, J.  et al. 2006	17023870				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			J Am Acad Child Adolesc Psychiatry    2006	Pharmacogenetics of Methylphenidate Response in Preschoolers With ADHD		126455		CDC	2006	Emerging evidence suggests the potential for understanding the individual variability of response to and side effects of ADHD medications from the study of genetics, although additional research is required before these findings are proven to have clinical utility.											
153633		manic depression	PSYCH	PSY	Bipolar Disorder	5	5p15.3	SLC6A3	1445908	1498543		Stober, G.  et al. 2006	17042887				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Bipolar Disord    2006    8(5 Pt 1)    490-5	Association study of 5'-UTR polymorphisms of the human dopamine transporter gene with manic depression		126455		CDC	2006	In 											
153634		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Qian, Q.  et al. 2006	17044099				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		China	CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	Evaluation of potential gene-gene interactions for attention deficit hyperactivity disorder in the Han Chinese population		126455		CDC	2006												
153635	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Genro, J. P.  et al. 2006	17044101	SLC6A3  (-839 C > T)		promoter	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Brazilian		CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	A promoter polymorphism (-839 C > T) at the dopamine transporter gene is associated with attention deficit/hyperactivity disorder in Brazilian children		126455		CDC	2006												
153637		attention deficit hyperactivity disorder schizotypal personality traits	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Schizotypal Personality Disorder	5	5p15.3	SLC6A3	1445908	1498543		Ettinger, U.  et al. 2006	17109713				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Caucasian		CDC GDP info	6531	Hs.406			Psychiatry Clin Neurosci    2006    60(6)    764-7	Schizotypy, attention deficit hyperactivity disorder, and dopamine genes		126455		CDC	2006												
153638		delinquent behavior violent behavior	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Guo, G.  et al. 2006	17120049				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Hum Genet    2006	Contributions of the DAT1 and DRD2 genes to serious and violent delinquency among adolescents and young adults		126455		CDC	2006												
153639	N	intelligence	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Genro, J. P.  et al. 2006	17130883				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Mol Psychiatry    2006    11(12)    1066-7	No association between dopaminergic polymorphisms and intelligence variability in attention-deficit/hyperactivity disorder		126455		CDC	2006												
153640	N	weight gain	PHARMACOGENOMIC	PHARM	Obesity|Genetic Predisposition to Disease|Weight Gain	5	5p15.3	SLC6A3	1445908	1498543		Hu, J.  et al. 2006	17135598				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Obesity (Silver Spring)    2006    14(11)    1863-7	No evidence for a major role of polymorphisms during bupropion treatment		126455		CDC	2006	our results do not support a major role for these five candidate genes in weight gain after smoking cessation.		bupropion									
153641	N	extrapyramidal side effects	NEUROLOGICAL	NEUR	Basal Ganglia Diseases|Dyskinesia, Drug-Induced|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Lafuente, A.  et al. 2006	17150335				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	European		CDC GDP info	6531	Hs.406			Schizophr Res    2006	Dopamine transporter (DAT) genotype (VNTR) and phenotype in extrapyramidal symptoms induced by antipsychotics		126455		CDC	2006	Our results suggest that the VNTR polymorphism did not influence AP-induced EPS and did not affect DAT gene expression or protein function.											
153643		Tourette syndrome	PSYCH	PSY	Tourette Syndrome|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Yoon, D. Y.  et al. 2006	17171650				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	Dopaminergic polymorphisms in Tourette syndrome		126455		CDC	2006												
153645	N	personality traits	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Kim, S. J.  et al. 2006	17191306				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Korean		CDC GDP info	6531	Hs.406			Yonsei Med J    2006    47(6)    787-92	Lack of Association between Polymorphisms of the Dopamine Receptor D4 and Dopamine Transporter Genes and Personality Traits in a Korean Population		126455		CDC	2006												
153646	Y	disruptive behavior	PSYCH	PSY	Attention Deficit and Disruptive Behavior Disorders	5	5p15.3	SLC6A3	1445908	1498543		Lee, S. S.  et al. 2006	17192955				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	Association of dopamine transporter genotype with disruptive behavior disorders in an eight-year longitudinal study of children and adolescents		126455		CDC	2006												
153647		dystonia, acute parkinsonism tardive dyskinesia	PHARMACOGENOMIC	PHARM	Basal Ganglia Diseases|Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Guzey, C.  et al. 2007	17225991				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Eur J Clin Pharmacol    2007	Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia		126455		CDC	2007	Presence of the Taq1A A1 allele of the DRD2 and the 9 repeat allele of the DAT1 VNTR polymorphisms might be risk factors for EPS caused by antipsychotic drugs.		antipsychotic drug									
153649	Y	smoking behavior	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		O'gara, C.  et al. 2007	17264803				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Pharmacogenet Genomics    2007    17(1)    61-67	Dopamine transporter polymorphisms are associated with short-term response to smoking cessation treatment		126455		CDC	2007	We find evidence, although modest, of a medium-sized effect of DAT1 genotype on the ability to stop smoking early in a smoking cessation attempt. If the effect is real, and is strongest in the very early stages of smoking cessation, this suggests that the primary utility of DAT1 screening in this field will be in the identification of those most at risk of early relapse after quitting.											
153650		appetite suppression	PHARMACOGENOMIC	PHARM	Bulimia Nervosa	5	5p15.3	SLC6A3	1445908	1498543		Davis, C.  et al. 2007	17314918				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Neuropsychopharmacology    2007	Dopamine Transporter Gene (DAT1) Associated with Appetite Suppression to Methylphenidate in a Case-Control Study of Binge Eating Disorder		126455		CDC	2007			methylphenidate									
153651		bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	5	5p15.3	SLC6A3	1445908	1498543		Ohadi, M.  et al. 2007	17316573				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Iranian		CDC GDP info	6531	Hs.406			Brain Res    2007	Gender dimorphism in the DAT1 -67 T-allele homozygosity and predisposition to bipolar disorder		126455		CDC	2007												
153653		personality traits	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Hunnerkopf, R.  et al. 2007	17392738				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Neuropsychopharmacology    2007	Interaction between BDNF Val66Met and Dopamine Transporter Gene Variation Influences Anxiety-Related Traits		126455		CDC	2007												
153654	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Asherson, P.  et al. 2007	17403983				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Psychiatry    2007    164(4)    674-7	Confirmation that a specific haplotype of the dopamine transporter gene is associated with combined-type ADHD		126455		CDC	2007	These data challenge results of meta-analyses suggesting that dopamine transporter variation does not have an effect on the risk for ADHD, and they indicate that further investigation of functional variation in the gene is required.											
153655		nicotine dependence smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	5	5p15.3	SLC6A3	1445908	1498543		Segman, R. H.  et al. 2007	17427187				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Why do young women smoke? IV. Role of genetic variation in the dopamine transporter and lifetime traumatic experience		126455		CDC	2007			trauma									
153657		traumatic brain injury	NEUROLOGICAL	NEUR	Brain Injuries	5	5p15.3	SLC6A3	1445908	1498543		Wagner, A. K.  et al. 2007	17432702				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			J Neurosurg    2007    106(4)    538-47	Sex and genetic associations with cerebrospinal fluid dopamine and metabolite production after severe traumatic brain injury		126455		CDC	2007	In addition to systemic administration of DA, inherent factors such as sex and DAT genotype affect post-TBI CSF DA and DA metabolite levels, a phenomenon that may modulate susceptibility to DA-mediated oxidative injury.											
153658		alcohol abuse	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Guo, G.  et al. 2007	17440951				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood		126455		CDC	2007												
153659		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Yang, B.  et al. 2007	17440978				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	A meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention deficit hyperactivity disorder		126455		CDC	2007												
153660		antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	5	5p15.3	SLC6A3	1445908	1498543		Hoenicka, J.  et al. 2007	17449448				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2		Spain	CDC GDP info	6531	Hs.406			Neurotox Res    2007    11(1)    51-60	Association in alcoholic patients between psychopathic traits and the additive effect of allelic forms of the CNR1 and FAAH endocannabinoid genes, and the 3' region of the DRD2 gene		126455		CDC	2007												
153661		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Dick, F.  et al. 2007	17449559				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	European		CDC GDP info	6531	Hs.406			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		126455		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
153663		neural reward sensitivity	NEUROLOGICAL	NEUR		5	5p15.3	SLC6A3	1445908	1498543		Yacubian, J.  et al. 2007	17483451				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Proc Natl Acad Sci U S A    2007	Gene-gene interaction associated with neural reward sensitivity		126455		CDC	2007												
153664	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Mental Disorders|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Laucht, M.  et al. 2007	17485610				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Arch Gen Psychiatry    2007    64(5)    585-90	Interacting effects of the dopamine transporter gene and psychosocial adversity on attention-deficit/hyperactivity disorder symptoms among 15-year-olds from a high-risk community sample		126455		CDC	2007	These findings provide initial evidence that environmental risks as described by the Rutter Family Adversity Index moderate the impact of the DAT1 gene on ADHD symptoms, suggesting a DAT1 effect only in those individuals exposed to psychosocial adversity.		psychosocial adversity									
153665		smoking behavior	CHEMDEPENDENCY	CHEM		5	5p15.3	SLC6A3	1445908	1498543		Swan, G. E.  et al. 2007	17500623				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Health Psychol    2007    26(3)    361-8	Joint effect of dopaminergic genes on likelihood of smoking following treatment with bupropion SR		126455		CDC	2007	Although these results are suggestive, a more compelling test is needed of the hypothesis that dopaminergic gene interaction underlies, in part, the likelihood of smoking following treatment with bupropion SR.											
153666		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Lasky-Su, J.  et al. 2007	17501935				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Ann Hum Genet    2007	Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder		126455		CDC	2007	await independent replication, these results suggest that a variant in DRD5 may affect age at onset for ADHD.											
153667		Tourette syndrome	PSYCH	PSY	Tourette Syndrome	5	5p15.3	SLC6A3	1445908	1498543		Tarnok, Z.  et al. 2007	17508355				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Dopaminergic candidate genes in Tourette syndrome		126455		CDC	2007	allele frequencies did not differ between cases and controls, but DAT1 genotype accounted for variations of tic severity within the TS group.											
153669		impulsivity	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Congdon, E.  et al. 2007	17525955				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Analysis of DRD4 and DAT polymorphisms and behavioral inhibition in healthy adults		126455		CDC	2007												
153670		alcohol abuse smoking behavior	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders	5	5p15.3	SLC6A3	1445908	1498543		Preuss, U. W.  et al. 2007	17526637				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Alcohol Alcohol    2007    42(3)    258-266	D2 dopamine receptor gene haplotypes and their influence on alcohol and tobacco consumption magnitude in alcohol-dependent individuals		126455		CDC	2007												
153672		spatial bias	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Bellgrove, M. A.  et al. 2007	17549062				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Mol Psychiatry    2007	Dopaminergic genotype biases spatial attention in healthy children		126455		CDC	2007												
153673		antisocial personality disorder attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Langley, K.  et al. 2007	17579368				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior		126455		CDC	2007			alcohol, maternal birth weight smoking (tobacco), maternal									
153675	N	attention deficit hyperactivity disorder	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Banoei, M. M.  et al. 2007	17582621				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Iranian		CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	No association between the DAT1 10-repeat allele and ADHD in the Iranian population		126455		CDC	2007												
153676	Y	behavior problems	PSYCH	PSY	Multiple Regulatory Disorders in Infancy/Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity|Child Behavior Disorders|	5		DRD4				Becker, K.  et al. 2007	17608284				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Z Kinder Jugendpsychiatr Psychother    2007    35(2)    145-51	Dopaminergic polymorphisms and regulatory problems in infancy				CDC	2007	The result must be replicated in an independent sample before any conclusions can be drawn.											
153677	Y	depression	PHARMACOGENOMIC	PHARM		5	5p15.3	SLC6A3	1445908	1498543		Lavretsky, H.  et al. 2007	17621383	VNTR 10/10			Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Int J Geriatr Psychiatry    2007	The effects of the dopamine and serotonin transporter polymorphisms on clinical features and treatment response in geriatric depression		126455		CDC	2007	DAT VNTR 10/10 genotype may be associated with an endophenotype of late-life depression with executive dysfunction that responds preferentially to methylphenidate added to a selective serotonin reuptake inhibitor, which warrants replication in a large sample. Copyright (c) 2007 John Wiley & Sons, Ltd.		citalopram									
153678		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Comings, D. E.  et al. 2000	11140838				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		182138		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
153680		5-HT1A receptor binding	NORMALVARIATION	NV		17	17q11.1-q12	SLC6A4	25549031	25586831		David, S. P.  et al. 2005	15758168				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Neurosci    2005    25(10)    2586-90	A functional genetic variation of the serotonin (5-HT) transporter affects 5-HT1A receptor binding in humans		182138		CDC	2005												
153681		personality traits	PSYCH	PSY	Phobic Disorders|Eating Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Bertolino, A.  et al. 2005	15953488				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2005    57    1517-25	Variation of human amygdala response during threatening stimuli as a function of 5'HTTLPR genotype and personality style.		182138		CDC	2005	The results of the present study suggest that aspects of personality style are rooted in biological responses of the fear circuitry associated with processing of environmental information.											
153683		obsessive compulsive disorder panic disorder	PSYCH	PSY	Obsessive-Compulsive Disorder|Panic Disorder|Compulsive Personality Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Perez, M.  et al. 2006	16303282			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Anxiety Disord    2006    20(6)    794-806	Differentiation of obsessive-compulsive-, panic-, obsessive-compulsive personality-, and non-disordered individuals by variation in the promoter region of the serotonin transporter gene		182138		CDC	2006												
153684		bipolar disorder	PSYCH	PSY	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831			16338761				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			Ann Med    2005    37(8)    590-602	Serotonin gene polymorphisms and bipolar I disorder		182138		CDC	2005												
153685		pulmonary hypertension	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Willers, E. D.  et al. 2006	16339917				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Respir Crit Care Med    2006    173(7)    798-802	Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension		182138		CDC	2006	In patients with IPAH, these SERT genotypes do not correlate with age at diagnosis or survival interval.											
153686		anxiety	PSYCH	PSY	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Mizuno, T.  et al. 2006	16380315				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Psychosom Res    2006    60(1)    91-7	Gender difference in association between polymorphism of serotonin transporter gene regulatory region and anxiety		182138		CDC	2006	On all emotional scales, females with the l/s genotype showed high scores, contrary to males with the same genotype. Therefore, our results suggest that 5-HTTLPR l allele may be one pathway that activates negative emotion in females but acts contrary in males.											
153687		anorexia nervosa personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Rybakowski, F.  et al. 2006	16397402				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychobiology    2006    53(1)    33-9	The 5-HT2A -1438 A/G and 5-HTTLPR polymorphisms and personality dimensions in adolescent anorexia nervosa		182138		CDC	2006												
153688		schizophrenia suicide	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831			16405867				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese;European;Asian		CDC GDP info	6532	Hs.591192			Biochem Biophys Res Commun    2006    340(3)    1006-15	Association study of serotonin 2A receptor (5-HT2A) gene with schizophrenia and suicidal behavior using systematic meta-analysis		182138		CDC	2006												
153689	Y	aggressive behavior	PSYCH	PSY	Genetic Predisposition to Disease|Child Behavior Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831			16412987	5HTTLPR s-allele			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Family-Based Association Test of the 5HTTLPR and Aggressive Behavior in a General Population Sample of Children		182138		CDC	2006	This is the first report of an association analysis of the 5HTTLPR in a general population sample of school-age children. The results provide some support for the hypothesis that the functional effects of the 5HTTLPR s-allele are associated with higher levels of aggressive behavior in middle childhood.											
153690	Y	auditory-evoked potentials	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831			16421513				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2006	Further Evidence for an Association of 5-HTTLPR with Intensity Dependence of Auditory-Evoked Potentials		182138		CDC	2006												
153691		obsessive compulsive disorder	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Denys, D.  et al. 2006	16443280				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Affect Disord    2006	Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder		182138		CDC	2006	Our data yields interesting preliminary results as regards the genetic underpinnings of OCD phenotypes that warrant further discussion and investigation.											
153692	Y	body mass bulimia harm avoidance personality disorders	METABOLIC	MET	Genetic Predisposition to Disease|Bulimia Nervosa	17	17q11.1-q12	SLC6A4	25549031	25586831		Monteleone, P.  et al. 2006	16449418				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychosom Med    2006    68(1)    99-103	Investigation of the serotonin transporter regulatory region polymorphism in bulimia nervosa		182138		CDC	2006	These findings support the view that polymorphic variants of the 5HTT promoter region do not play a part in predisposing to BN, whereas they seem to predispose bulimic individuals to nutritional impairment and increased harm avoidance.											
153693	Y	depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kaufman, J.  et al. 2006	16458264	SLC6A4   5-HTTLPR			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Brain-Derived Neurotrophic Factor-5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children		182138		CDC	2006	To the best of our knowledge, this is the first investigation to demonstrate a gene-by-gene interaction conveying vulnerability to depression. The current data also show a protective effect of social supports in ameliorating genetic and environmental risk for psychopathology.			BDNF	BDNF val66met	SLC6A4	SLC6A4   5-HTTLPR					
153694		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Burn, D. J.  et al. 2006	16459126				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Parkinsonism Relat Disord    2006	Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease		182138		CDC	2006												
153695	N	dyspepsia	OTHER	OTH	Dyspepsia	17	17q11.1-q12	SLC6A4	25549031	25586831		Camilleri, C. E.  et al. 2006	16464220				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		182138		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
153697		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Koishi, S.  et al. 2006	16481140			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Brain Dev    2006	Serotonin transporter gene promoter polymorphism and autism		182138		CDC	2006												
153698		obesity	METABOLIC	MET	Obesity	17	17q11.1-q12	SLC6A4	25549031	25586831		Santos, J. L.  et al. 2005	16491645			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Nutr Neurosci    2005    8(4)    207-11	No evidence of association between the serotonin 2A receptor--1438G/A promoter polymorphism and childhood obesity in a Spanish population		182138		CDC	2005	it is unlikely that the--1438 G/A polymorphism of 5HT2A gene may influence obesity in a Spanish children population.											
153699	Y	alcohol intake	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Hinckers, A. S.  et al. 2006	16497275				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Low Level of Response to Alcohol as Associated with Serotonin Transporter Genotype and High Alcohol Intake in Adolescents		182138		CDC	2006	This study demonstrates that, independent of the assessed psychosocial variables, the 5-HTT genotype correlated with the level of response to alcohol and predicted alcohol intake among 16-year-old adolescents.											
153700		suicide	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Helbecque, N.  et al. 2006	16510244			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2006	The serotonin transporter promoter polymorphism and suicide		182138		CDC	2006												
153701		adverse drug events	PHARMACOGENOMIC	PHARM	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Popp, J.  et al. 2006	16515395				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Pharmacogenomics    2006    7(2)    159-166	Serotonin transporter polymorphisms and side effects in antidepressant therapy - a pilot study		182138		CDC	2006	These results support the hypothesis that both polymorphisms influence tolerability to drugs primarily acting via HTT inhibition, such as SSRIs, TCAs and venlafaxine.		antidepressants mirtazapine									
153703	Y	anxiety disorder	PHARMACOGENOMIC	PHARM	Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831			16525856			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychopharmacology (Berl)    2006	Serotonin transporter gene promoter polymorphism predicts SSRI response in generalized social anxiety disorder		182138		CDC	2006	Variation in a functional polymorphism known to influence serotonin reuptake is associated with$$$ SSRI response in patients with GSAD.		serotonin reuptake inhibitors									
153705		behavioral traits	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831			16541086				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2006	Serotonin Transporter Polymorphism Mediates Vulnerability to Loss of Incentive Motivation Following Acute Tryptophan Depletion		182138		CDC	2006			acute tryptophan depletion									
153706		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Ng, C. H.  et al. 2006	16580768				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Chinese;Caucasian	China|	CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2006	Serotonin transporter polymorphisms and clinical response to sertraline across ethnicities		182138		CDC	2006			sertraline									
153707	Y	psychoses	NEUROLOGICAL	NEUR	Alzheimer Disease|Hypotension|Cognition Disorders|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Borroni, B.  et al. 2006	16582043	SLC6A4  *S			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Geriatr Psychiatry    2006    14(4)    343-351	Cumulative Effect of COMT and 5-HTTLPR Polymorphisms and Their Interaction With Disease Severity and Comorbidities on the Risk of Psychosis in Alzheimer Disease		182138		CDC	2006	These findings claim for a synergic effect of COMT*H and 5-HTTLPR*S polymorphisms on the risk of psychosis in AD and for their interaction with disease stage and ischemic cardiomyopathy. This study suggests that considering both the genetic background and the environmental correlates might provide new insight for understanding psychosis mechanisms related to AD.		cardiomyopathy	COMT	COMT*H	SLC6A4	SLC6A4  *S					
153708	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Banerjee, E.  et al. 2006	16583436			Intron	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	A family-based study of Indian subjects from Kolkata reveals allelic association of the serotonin transporter intron-2 (STin2) polymorphism and attention-deficit-hyperactivity disorder (ADHD)		182138		CDC	2006												
153709		obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Hasler, G.  et al. 2006	16583440				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	Factor analysis of obsessive-compulsive disorder YBOCS-SC symptoms and association with 5-HTTLPR SERT polymorphism		182138		CDC	2006												
153710		personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, S. J.  et al. 2006	16604301			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			J Neural Transm    2006	An interaction between the serotonin transporter promoter region and dopamine transporter polymorphisms contributes to harm avoidance and reward dependence traits in normal healthy subjects		182138		CDC	2006												
153711	N	autism	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Ramoz, N.  et al. 2006	16616719				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Lack of Evidence for Association of the Serotonin Transporter Gene SLC6A4 with Autism		182138		CDC	2006	SLC6A4 variants do not appear to be significantly involved in the liability to autism.											
153712	Y	migraine	NEUROLOGICAL	NEUR	Migraine Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Szilagyi, A.  et al. 2006	16618266				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Headache    2006    46(3)    478-85	Contribution of serotonin transporter gene polymorphisms to pediatric migraine		182138		CDC	2006	These results confirm and extend the association between the STin2 polymorphism of 5-HTT gene and migraine with aura using pediatric probands. Our data also suggest a novel endophenotype for pediatric migraine characterized by excessive vomiting and abdominal pain during the attack.											
153713		mood pain	PSYCH	PSY	Intervertebral Disk Displacement|Pain|Sciatica|Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Max, M. B.  et al. 2006	16623937				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Pain    2006    2    14	A clinical genetic method to identify mechanisms by which pain causes depression and anxiety		182138		CDC	2006	Genomic analysis of longitudinal studies of pain, depression, and anxiety in patients undergoing pain-relieving surgery may help to identify molecules through which pain alters mood. Detection of alleles with modest-sized effects will require larger cohorts.		pain									
153714		obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Hu, X. Z.  et al. 2006	16642437			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Hum Genet    2006    78(5)    815-26	Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder		182138		CDC	2006												
153715		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Guhathakurta, S.  et al. 2006	16674932			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Indian		CDC GDP info	6532	Hs.591192			Brain Res    2006	Serotonin transporter promoter variants		182138		CDC	2006												
153716		alcoholism attention deficit hyperactivity disorder	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, J. W.  et al. 2006	16679343				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			Alcohol Alcohol    2006	CLINICAL AND GENETIC CHARACTERISTICS OF KOREAN MALE ALCOHOLICS WITH AND WITHOUT ATTENTION DEFICIT HYPERACTIVITY DISORDER		182138		CDC	2006	The results of this study suggest that the comorbidity of alcohol dependence and ADHD in this Korean sample forms a distinct clinical phenotype that shows an increased severity of alcohol-related symptoms and behavioural/emotional problems and that ADHD is associated with$$$ an increased risk for the early onset of alcohol dependence in Korean male alcoholics.											
153717	Y	personality disorders	PSYCH	PSY	Borderline Personality Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Ni, X.  et al. 2006	16690085				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			J Psychiatr Res    2006	Association between serotonin transporter gene and borderline personality disorder		182138		CDC	2006												
153718	Y	alcoholism	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism|Tobacco Use Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Marques, F. Z.  et al. 2006	16691130				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Brazilian;European		CDC GDP info	6532	Hs.591192			Psychiatr Genet    2006    16(3)    125-31	Influence of the serotonin transporter gene on comorbid disorders among alcohol-dependent individuals		182138		CDC	2006	The present results are consistent with the importance of the 5-HTT gene in psychiatry. They suggest a role of the 5-HTTLPR polymorphism in a group of comorbid disorders among alcohol-dependent individuals, supporting a genetic influence in alcoholism heterogeneity.											
153719		autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Guerini, F. R.  et al. 2006	16698432				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Sardinian	Italy	CDC GDP info	6532	Hs.591192			Hum Immunol    2006    67(1-2)    108-17	A Family Based Linkage Analysis of HLA and 5-HTTLPR Gene Polymorphisms in Sardinian Children with Autism Spectrum Disorder		182138		CDC	2006												
153721		serotonin levels	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Weiss, L. A.  et al. 2006	16721604				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Hum Genet    2006    120(1)    93-100	ITGB3 shows genetic and expression interaction with SLC6A4		182138		CDC	2006												
153722		migraine personality traits	NEUROLOGICAL	NEUR	Migraine without Aura	17	17q11.1-q12	SLC6A4	25549031	25586831		Park, J. W.  et al. 2006	16732845				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Headache    2006    46(6)    991-6	Serotonin Transporter Protein Polymorphism and Harm Avoidance Personality in Migraine without Aura		182138		CDC	2006	Serotonergic activity might be involved in the development of MWOA and VNTR of serotonin transporter gene might be one of the genetically contributing factors.											
153724		bipolar disorder depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Mandelli, L.  et al. 2006	16756688				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Italian		CDC GDP info	6532	Hs.591192			Int J Neuropsychopharmacol    2006        1-11	Interaction between serotonin transporter gene, catechol- O -methyltransferase gene and stressful life events in mood disorders		182138		CDC	2006												
153725		smoking behavior	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Lerer, E.  et al. 2006	16770336				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Israeli	Israel	CDC GDP info	6532	Hs.591192			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		182138		CDC	2006												
153726		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Michelon, L.  et al. 2006	16787706				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2006	Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder		182138		CDC	2006			lithium									
153728		depressive disorder, major	PSYCH	PSY	Chromosome Deletion|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Bozina, N.  et al. 2006	16804504				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Danub    2006    18(1-2)    83-9	Serotonin transporter polymorphism in croatian patients with major depressive disorder		182138		CDC	2006	"""s"" allele variant in the intron 2 of SERT gene could be associated with susceptibility to MDD."											
153729		alcohol abuse smoking behavior	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Skowronek, M. H.  et al. 2006	16819620			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurogenetics    2006	Interaction between the dopamine D4 receptor and the serotonin transporter promoter polymorphisms in alcohol and tobacco use among 15-year-olds		182138		CDC	2006												
153730		panic disorder	PSYCH	PSY	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, W.  et al. 2006	16822601				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2006	Tryptophan hydroxylase and serotonin transporter gene polymorphism does not affect the diagnosis, clinical features and treatment outcome of panic disorder in the Korean population		182138		CDC	2006												
153732		pain response	NEUROLOGICAL	NEUR	Acute Disease|Genetic Predisposition to Disease|Pain, Postoperative	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, H.  et al. 2006	16848906				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Pain    2006    2(1)    24	Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans		182138		CDC	2006	These results suggest that the previously reported associations between genetic polymorphisms in the monoamine neurotransmitter systems and the interindividual variability in pain responses cannot be replicated in a clinically relevant pain phenotype.											
153733		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Wigg, K. G.  et al. 2006	16856124				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	Gene for the serotonin transporter and ADHD		182138		CDC	2006												
153734	Y	suicide	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Segal, J.  et al. 2006	16859753				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatry Res    2006	Association between suicide attempts in south Brazilian depressed patients with the serotonin transporter polymorphism		182138		CDC	2006												
153735		depression drug hypersensitivity	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Kato, M.  et al. 2006	16874005				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Japan	CDC GDP info	6532	Hs.591192			Neuropsychobiology    2006    53(4)    186-195	Effects of the Serotonin Type 2A, 3A and 3B Receptor and the Serotonin Transporter Genes on Paroxetine and Fluvoxamine Efficacy and Adverse Drug Reactions in Depressed Japanese Patients		182138		CDC	2006			fluvoxamine paroxetine									
153736		slow transit constipation	OTHER	OTH		17	17q11.1-q12	SLC6A4	25549031	25586831		Ding, J. H.  et al. 2006	16886116				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Zhonghua Wei Chang Wai Ke Za Zhi    2006    9(4)    328-30	Serotonin transporter gene polymorphism in slow transit constipation.		182138		CDC	2006	The presence of 5-HTTLPR allele S may contribute to the pathogenesis of STC.											
153737		passive avoidance	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Finger, E. C.  et al. 2006	16900105				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2006	The Impact of Tryptophan Depletion and 5-HTTLPR Genotype on Passive Avoidance and Response Reversal Instrumental Learning Tasks		182138		CDC	2006			tryptophan depletion									
153738	Y	alcohol abuse substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Covault, J.  et al. 2006	16920076	s-allele			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Interactive Effects of the Serotonin Transporter 5-HTTLPR Polymorphism and Stressful Life Events on College Student Drinking and Drug Use		182138		CDC	2006	The 5-HTTLPR s-allele is associated with increased drinking and drug use among college students who have experienced multiple negative life events. The s-allele carriers may be at risk for a variety of adverse behavioral outcomes in response to stress.		life events									
153739	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Hickie, I. B.  et al. 2006	16930719				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Affect Disord    2006	Serotonin transporter gene status predicts caudate nucleus but not amygdala or hippocampal volumes in older persons with major depression		182138		CDC	2006	Reduced caudate nucleus volume in older patients with major depression was associated with the short allele of the 5-HTT gene. This regional brain change may be a consequence of early developmental expression as well as later vascular or degenerative effects of this genotype.											
153740		depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Taylor, S. E.  et al. 2006	16934775			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Early Family Environment, Current Adversity, the Serotonin Transporter Promoter Polymorphism, and Depressive Symptomatology		182138		CDC	2006	Early or current environment, in conjunction with the serotonin transporter polymorphism, predicts depressive symptomatology.		family environment stress									
153741	Y	decision-making memory impairment	PSYCH	PSY	Substance-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Roiser, J. P.  et al. 2006	16941121				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychopharmacology (Berl)    2006	The effect of polymorphism at the serotonin transporter gene on decision-making, memory and executive function in ecstasy users and controls		182138		CDC	2006	The results are consistent with the hypothesis that cognitive impairment in ecstasy users may depend on genetic variation at the 5-HTTLPR.		ecstacy									
153742	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Li, J.  et al. 2006	16941663				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	Association between polymorphisms in serotonin transporter gene and attention deficit hyperactivity disorder in Chinese Han subjects		182138		CDC	2006												
153743		burning mouth syndrome	OTHER	OTH	Burning Mouth Syndrome|Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Guimaraes, A. L.  et al. 2006	16942951				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Brazilian		CDC GDP info	6532	Hs.591192			J Pain    2006    7(9)    654-8	Interleukin-1beta and serotonin transporter gene polymorphisms in burning mouth syndrome patients		182138		CDC	2006	the present study shows association between BMS and IL-1beta high producer genotype. PERSPECTIVE: This article shows evidence that genetic polymorphisms associated with IL-1beta high production genotype are implicated on the pathogenesis of BMS. The modulation of IL1beta production may be an interesting tool in BMS management.											
153744		depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Zalsman, G.  et al. 2006	16946185			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian;European		CDC GDP info	6532	Hs.591192			Am J Psychiatry    2006    163(9)    1588-93	Association of a Triallelic Serotonin Transporter Gene Promoter Region (5-HTTLPR) Polymorphism With Stressful Life Events and Severity of Depression		182138		CDC	2006	Lower expressing transporter alleles, directly and by increasing the impact of stressful life events on severity, explain 31% of the variance in major depression severity. The biological phenotype responsible for these effects remains to be elucidated.											
153745		weight loss	METABOLIC	MET	Weight Loss	17	17q11.1-q12	SLC6A4	25549031	25586831		Saunders, C. J.  et al. 2006	16950802				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian;South African		CDC GDP info	6532	Hs.591192			Hum Mol Genet    2006	Dipsogenic genes associated with weight changes during ironman triathlons		182138		CDC	2006	the functional SS genotype of the serotonin transporter-linked polymorphic region (5-HTTLPR) within the 5-HTT gene and the functional +9/+9 genotype of the BDKBR2 gene were associated with larger weight losses during the Ironman Triathlons. These findings suggest the involvement of the serotonergic pathways in the control of thirst and drinking behaviour and provide further evidence for the dipsogenic effect of circulating bradykinin.											
153746	Y	depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Neumeister, A.  et al. 2006	16953000				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Arch Gen Psychiatry    2006    63(9)    978-986	Differential Effects of 5-HTTLPR Genotypes on the Behavioral and Neural Responses to Tryptophan Depletion in Patients With Major Depression and Controls		182138		CDC	2006	Variations in 5-HTTLPR modulate the sensitivity of patients with rMDD and controls to the behavioral effects of TD. In patients with rMDD, variations in triallelic 5-HTTLPR have a direct effect on regulation of regional cerebral metabolic rates for glucose in a corticolimbic circuit that has been implicated in rMDD.		tryptophan depletion									
153747		suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Courtet, P.  et al. 2006	16963983				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Danub    2006    18 Suppl 1    75	Season of birth variations as risk factor of suicide attempts and interaction with the serotonin transporter gene		182138		CDC	2006												
153748		mood disorder suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Zalsman, G.  et al. 2006	16964175			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Danub    2006    18 Suppl 1    157	A triallelic serotonin transporter gene promoter polymorphism		182138		CDC	2006												
153749		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Scheid, J. M.  et al. 2006	16965382				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	non-Hispanic		CDC GDP info	6532	Hs.591192			Genes Brain Behav    2006	Depressive symptoms in mid-pregnancy, lifetime stressors and the 5-HTTLPR genotype		182138		CDC	2006			abuse stress									
153752		suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Pungercic, G.  et al. 2006	16969272			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Genet    2006    16(5)    187-91	Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphisms		182138		CDC	2006												
153753		eating disorders	PSYCH	PSY	Eating Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Frieling, H.  et al. 2006	16969275				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Genet    2006    16(5)    205-8	Association of catecholamine-O-methyltransferase and 5-HTTLPR genotype with eating disorder-related behavior and attitudes in females with eating disorders		182138		CDC	2006	We found associations between the COMT and the 5-HTTLPR polymorphisms and specific clinical, behavioral and attitudinal traits of eating disorders. These polymorphisms may predispose their carriers to exhibit certain symptoms of eating disorders or confer a general risk for more severe forms of these disorders.											
153754	Y	suicide	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Li, D.  et al. 2006	16969368				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	European;Asian		CDC GDP info	6532	Hs.591192			Mol Psychiatry    2006	Meta-analysis supports association between serotonin transporter (5-HTT) and suicidal behavior		182138		CDC	2006												
153755		cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Gerra, G.  et al. 2006	16972224				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	Perceived parenting behavior in the childhood of cocaine users		182138		CDC	2006			maternal care paternal care									
153757	Y	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Lanzagorta, N.  et al. 2006	16991018				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Mexican		CDC GDP info	6532	Hs.591192			Actas Esp Psiquiatr    2006    34(5)    303-8	Effect to the serotonin transporter gene (5-HTT) on personality dimensions in individuals without psychopathology		182138		CDC	2006	These results are consistent with other studies that have not found associations among the different measurements of personality and 5-HTT genotypes. Likewise, our data suggest that our sample can be useful as a source of controls for later studies. This is the first study assessing TCI dimensions and the 5-HTT gene in the Mexican population.											
153758		cocaine dependence personality traits	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Impulse Control Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Mannelli, P.  et al. 2006	17000009				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatry Res    2006	Polymorphism in the serotonin transporter gene and moderators of prolactin response to meta-chlorophenylpiperazine in African-American cocaine abusers and controls		182138		CDC	2006			meta-chlorophenylpiperazine									
153759		nephritis, lupus	RENAL	REN	Lupus Nephritis|Disease Progression|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Birmingham, D. J.  et al. 2006	17009264				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Arthritis Rheum    2006    54(10)    3291-9	Fluctuation in self-perceived stress and increased risk of flare in patients with lupus nephritis carrying the serotonin receptor 1A -1019 G allele		182138		CDC	2006	Fluctuation in the level of SPS is a risk factor for the onset of flare in SLE patients with major renal manifestations when it occurs on the background of a stress-related susceptibility gene (the 5-HT1A -1019 G allele).											
153760		processing of emotional expressions	PSYCH	PSY	Cognition Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Marsh, A. A.  et al. 2006	17013635				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychopharmacology (Berl)    2006	Impaired recognition of fear facial expressions in 5-HTTLPR S-polymorphism carriers following tryptophan depletion		182138		CDC	2006	The effects of acute tryptophan depletion on the processing of emotional expressions varies as a function of genotype at the 5-HTTLPR. Depletion impairs the recognition of fear in s carriers but not ll homozygotes. This finding reinforces the importance of considering genotype when assessing the behavioral effects of pharmacologic modulation.		tryptophan depletion									
153761	Y	depression	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Grunblatt, E.  et al. 2006	17017823				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Austria	CDC GDP info	6532	Hs.591192			J Clin Psychiatry    2006    67(9)    1373-1378	Association Study of the 5-HTTLPR Polymorphism and Depression in 75-Year-Old Nondemented Subjects From the Vienna Transdanube Aging (VITA) Study		182138		CDC	2006	These observations of higher frequency of the 5-HTTLPR S allele in subjects with past/present depression fit with previous findings and point to the important role of 5-HTT in depression.											
153762		depression	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, H.  et al. 2006	17018806				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			JAMA    2006    296(13)    1609-18	Monoamine transporter gene polymorphisms and antidepressant response in koreans with late-life depression		182138		CDC	2006	Monoamine transporter gene polymorphisms were associated with response to antidepressants with homologous monoamine transporter targets.		fluoxetine nortriptyline sertraline									
153763	N	premenstrual dysphoric disorder	REPRODUCTION	REP	Premenstrual Syndrome|Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Magnay, J. L.  et al. 2006	17026953				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Obstet Gynecol    2006	Serotonin transporter, tryptophan hydroxylase, and monoamine oxidase A gene polymorphisms in premenstrual dysphoric disorder		182138		CDC	2006	These findings do not support a major role for common 5-hydroxytryptamine transporter, TPH1, and monoamine oxidase A polymorphisms in contributing to susceptibility to premenstrual dysphoric disorder.											
153764		suicide	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Gaysina, D.  et al. 2006	17028448				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Russian	Russia	CDC GDP info	6532	Hs.591192			Neuropsychobiology    2006    54(1)    70-4	The serotonin transporter gene		182138		CDC	2006												
153766		anxiety behaviors	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Brocke, B.  et al. 2006	17033630				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2006	Serotonin transporter gene variation impacts innate fear processing		182138		CDC	2006	the results provide first evidence that the startle response is sensitive to genetic variation in the serotonin pathway.											
153768		harm avoidance	PSYCH	PSY	Genetic Predisposition to Disease|Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Becker, K.  et al. 2006	17051418				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Neural Transm    2006	Is the serotonin transporter polymorphism (5-HTTLPR) associated with harm avoidance and internalising problems in childhood and adolescence?		182138		CDC	2006												
153769	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Cervilla, J. A.  et al. 2006	17063469				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Spanish;European		CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	The 5-HTTLPR s/s genotype at the serotonin transporter gene (SLC6A4) increases the risk for depression in a large cohort of primary care attendees		182138		CDC	2006												
153770		depression	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2006	17069894				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatry Res    2006	Pooling pharmacogenetic studies on the serotonin transporter		182138		CDC	2006			antidepressants									
153771	Y	irritable bowel syndrome	PHARMACOGENOMIC	PHARM	Irritable Bowel Syndrome	17	17q11.1-q12	SLC6A4	25549031	25586831		Li, Y. Y.  et al. 2006	17074108	L/L genotype were vulnerable for development of C-IBS.			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Zhonghua Nei Ke Za Zhi    2006    45(7)    552-5	Serotonin transporter gene polymorphisms in irritable bowel syndrome and their impact on tegaserod treatment.		182138		CDC	2006	5-HTTLPR and VNTRs genetic polymorphisms existed in Chinese people. In general, the genotypes were not involved in the pathogenesis of IBS. However people with L/L genotype were vulnerable for development of C-IBS. The 5-HTTLPR genetic polymorphisms influenced the efficacy of tegaserod treatment in C-IBS patients with L/L being poorer than S/S and S/L genotypes.		tegaserod									
153773		schizophrenia weight gain	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831		Bozina, N.  et al. 2006	17092963				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Psychopharmacol    2006	Association study of olanzapine-induced weight gain and therapeutic response with SERT gene polymorphisms in female schizophrenic patients		182138		CDC	2006			olanzapine									
153775		migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Todt, U.  et al. 2006	17101915				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	German	Germany	CDC GDP info	6532	Hs.591192			Neurology    2006    67(9)    1707-9	Variation of the serotonin transporter gene SLC6A4 in the susceptibility to migraine with aura		182138		CDC	2006												
153776	Y	anxiety disorder migraine	PSYCH	PSY	Migraine Disorders|Anxiety Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Gonda, X.  et al. 2006	17113652				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatry Res    2006	High anxiety and migraine are associated with the s allele of the 5HTTLPR gene polymorphism		182138		CDC	2006												
153777		depression	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Kraft, J. B.  et al. 2006	17123473				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2006	Analysis of Association Between the Serotonin Transporter and Antidepressant Response in a Large Clinical Sample		182138		CDC	2006	The lack of association between response to an SSRI and variation at the SLC6A4 locus in this large sample, carefully characterized for response to citalopram, strongly suggests that SSRI response in major depression is not determined by DNA variation at this locus.		citalopram									
153778	Y	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Nilsson, K. W.  et al. 2006	17123722				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2006	Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance		182138		CDC	2006												
153780		depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2006	17146470			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Asian		CDC GDP info	6532	Hs.591192			Mol Psychiatry    2006	Meta-analysis of serotonin transporter gene promoter polymorphism (5-HTTLPR) association with selective serotonin reuptake inhibitor efficacy in depressed patients		182138		CDC	2006												
153781	Y	autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Brune, C. W.  et al. 2006	17151167				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Psychiatry    2006    163(12)    2148-2156	5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism		182138		CDC	2006	These findings provide initial support for genotype-specific phenotypes for 5-HTTLPR in autism based on ratings from the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule.											
153782		depressive disorder, major mood disorder	PHARMACOGENOMIC	PHARM	Recurrence|Mood Disorders|Depressive Disorder, Major|Somatoform Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Serretti, A.  et al. 2007	17157919				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatry Res    2007    149(1-3)    185-93	"Serotonin transporter gene influences the time course of improvement of ""core"" depressive and somatic anxiety symptoms during treatment with SSRIs for recurrent mood disorders "		182138		CDC	2007			antidepressants									
153783		alcoholism depression	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831		Dick, D. M.  et al. 2007	17167343				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			Psychiatr Genet    2007    17(1)    35-38	Association analyses of the serotonin transporter gene with lifetime depression and alcohol dependence in the Collaborative Study on the Genetics of Alcoholism (COGA) sample		182138		CDC	2007												
153785	N	depression	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Micheli, D.  et al. 2006	17183148				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Alzheimers Dis    2006    10(4)    371-8	No evidence for allelic association of serotonin 2A receptor and transporter gene polymorphisms with depression in Alzheimer disease		182138		CDC	2006												
153786		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Coutinho, A. M.  et al. 2007	17203304				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		182138		CDC	2007												
153787		brain activation	NEUROLOGICAL	NEUR		17	17q11.1-q12	SLC6A4	25549031	25586831		Smolka, M. N.  et al. 2007	17211439				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2007	Gene-gene effects on central processing of aversive stimuli		182138		CDC	2007												
153789	N	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Kapelski, P.  et al. 2006	17217236				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Pol    2006    40(5)    925-35	Lack of association between the insertion/deletion polymorphism in the serotonin transporter gene and schizophrenia		182138		CDC	2006	In the present study no association between 5-HTTLPR polymorphism and schizophrenia was found.											
153790		decision making	PSYCH	PSY	Learning Disorders|Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Jollant, F.  et al. 2007	17221847				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	The influence of four serotonin-related genes on decision-making in suicide attempters		182138		CDC	2007												
153791		dystonia, acute parkinsonism tardive dyskinesia	PHARMACOGENOMIC	PHARM	Basal Ganglia Diseases|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Guzey, C.  et al. 2007	17225991				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Eur J Clin Pharmacol    2007	Antipsychotic-induced extrapyramidal symptoms in patients with schizophrenia		182138		CDC	2007	Presence of the Taq1A A1 allele of the DRD2 and the 9 repeat allele of the DAT1 VNTR polymorphisms might be risk factors for EPS caused by antipsychotic drugs.		antipsychotic drug									
153792	N	obsessive compulsive disorder	PSYCH	PSY	Tic Disorders|Tourette Syndrome|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Dickel, D. E.  et al. 2007	17241828				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2007    61(3)    322-9	Association Studies of Serotonin System Candidate Genes in Early-onset Obsessive-Compulsive Disorder		182138		CDC	2007	Low power across individual association studies in OCD may lead to a false acceptance of the null hypothesis.											
153795		schizophrenia	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Wang, L.  et al. 2007	17287080				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2007	Response of risperidone treatment may be associated with polymorphisms of HTT gene in Chinese schizophrenia patients		182138		CDC	2007			risperidone									
153796	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Lin, P. Y.  et al. 2007	17291658				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2007	Meta-analysis of the association of serotonin transporter gene polymorphism with obsessive-compulsive disorder		182138		CDC	2007												
153797		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Saiz, P. A.  et al. 2007	17291660				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2007	Association study of serotonin 2A receptor (5-HT2A) and serotonin transporter (5-HTT) gene polymorphisms with schizophrenia		182138		CDC	2007	Our findings support a possible synergistic effect of genetic factors influencing serotonergic neurotransmission on susceptibility to schizophrenia.											
153798		anxiety depression neuroticism	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Gonda, X.  et al. 2006	17297200				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Hung    2006    21(5)    379-385	Relationship between serotonin transporter gene 5HTTLPR polymorphism and the symptoms of neuroticism in healthy population.		182138		CDC	2006	Our results indicate that even in a psychiatrically healthy population there is an association between 5HTTLPR and a tendency for depression and anxiety or subclinical manifestation of depressive and anxiety symptoms.											
153799	N	harm avoidance personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Joo, Y. H.  et al. 2007	17297267				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			J Korean Med Sci    2007    22(1)    138-41	No Association between 5-HTTLPR and Harm Avoidance in Korean College Students		182138		CDC	2007												
153800	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Sookoian, S.  et al. 2007	17299098	S allele of the SLC6A4		promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Obesity (Silver Spring)    2007    15(2)    271-6	Short allele of serotonin transporter gene promoter is a risk factor for obesity in adolescents		182138		CDC	2007	the S allele of the SLC6A4 promoter variant is associated with overweight being an independent genetic risk factor for obesity.											
153802		heart failure pulmonary artery pressure	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Heart Failure|Ventricular Dysfunction, Left	17	17q11.1-q12	SLC6A4	25549031	25586831		Olson, T. P.  et al. 2007	17307423				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am Heart J    2007    153(3)    426-432	Repeat length polymorphism of the serotonin transporter gene influences pulmonary artery pressure in heart failure		182138		CDC	2007	These results suggest that the LL variant of the 5-HTT is associated with elevated PAP in patients with HF.											
153804		attentional biases	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Beevers, C. G.  et al. 2007	17324031				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Abnorm Psychol    2007    116(1)    208-12	Serotonin transporter genetic variation and biased attention for emotional word stimuli among psychiatric inpatients		182138		CDC	2007												
153805		aggressive behavior Fragile X Syndrome	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Hessl, D.  et al. 2007	17340199				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Autism Dev Disord    2007	Brief Report		182138		CDC	2007												
153806		cognitive function hippocampal volume	NEUROLOGICAL	NEUR		17	17q11.1-q12	SLC6A4	25549031	25586831		O'hara, R.  et al. 2007	17353910				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2007	Serotonin transporter polymorphism, memory and hippocampal volume in the elderly		182138		CDC	2007			cortisol									
153807		suicide	PSYCH	PSY	Wounds and Injuries	17	17q11.1-q12	SLC6A4	25549031	25586831		Roy, A.  et al. 2007	17356577				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	Interaction between Childhood Trauma and Serotonin Transporter Gene Variation in Suicide		182138		CDC	2007												
153808	N	oral lichen planus	INFECTION	INF	Lichen Planus, Oral	17	17q11.1-q12	SLC6A4	25549031	25586831		Perdigao, P. F.  et al. 2007	17359932				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Arch Oral Biol    2007	Serotonin transporter gene polymorphism (5-HTTLPR) in patients with oral lichen planus		182138		CDC	2007												
153810		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rybakowski, J. K.  et al. 2007	17373693				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	Response to lithium prophylaxis		182138		CDC	2007			lithium									
153811	N	obsessive compulsive disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Wendland, J. R.  et al. 2007	17375136				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	A Large Case-Control Study of Common Functional SLC6A4 and BDNF Variants in Obsessive-Compulsive Disorder		182138		CDC	2007	despite their attractiveness as candidate genes in OCD, our data provide no support for association in this large OCD patient sample and point toward the need to examine other genes as candidates for risk determinants in OCD.											
153812	Y	decision making	PSYCH	PSY	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Must, A.  et al. 2007	17382402	ss variant			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Affect Disord    2007	Major depressive disorder, serotonin transporter, and personality traits		182138		CDC	2007	Decision-making strategy is influenced by personality traits and genetic variations in patients with MDD. Patients carrying the ss variant of the 5-HTTLPR show less persistence and tend to be influenced by high immediate reward.											
153814		personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Hunnerkopf, R.  et al. 2007	17392738				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	Interaction between BDNF Val66Met and Dopamine Transporter Gene Variation Influences Anxiety-Related Traits		182138		CDC	2007												
153815	Y	irritable bowel syndrome	PHARMACOGENOMIC	PHARM	Irritable Bowel Syndrome|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Li, Y.  et al. 2007	17394071				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Dig Dis Sci    2007	The Association of Serotonin Transporter Genetic Polymorphisms and Irritable Bowel Syndrome and Its Influence on Tegaserod Treatment in Chinese Patients		182138		CDC	2007			tegaserod									
153817		amygdala activity	NEUROLOGICAL	NEUR	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Dannlowski, U.  et al. 2007	17406646				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	5-HTTLPR Biases Amygdala Activity in Response to Masked Facial Expressions in Major Depression		182138		CDC	2007												
153818		Autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cross, S.  et al. 2007	17406648				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192	5-hydroxytryptamine		Neuropsychopharmacology    2007	Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism		182138		CDC	2007												
153819	N	depression, interferon-induced	PSYCH	PSY	Hepatitis C, Chronic|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Kraus, M. R.  et al. 2007	17408646				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Germany	CDC GDP info	6532	Hs.591192			Gastroenterology    2007	Serotonin-1A Receptor Gene HTR1A Variation Predicts Interferon-Induced Depression in Chronic Hepatitis C		182138		CDC	2007	Our findings suggest an impact of allelic variation in 5-HT(1A) receptor expression on the development of interferon alfa-induced depression during antiviral treatment of chronic hepatitis C. Prediction models of interferon-induced depressive symptoms based on HTR1A variation offer a perspective for an antidepressant selective serotonin reuptake inhibitor prophylaxis in patients genetically at risk for interferon-induced depression.											
153820		serotonin reuptake inhibitors-induced adverse events	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Smits, K.  et al. 2007	17414739				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Int Clin Psychopharmacol    2007    22(3)    137-43	Serotonin transporter polymorphisms and the occurrence of adverse events during treatment with selective serotonin reuptake inhibitors		182138		CDC	2007												
153821	Y	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Hayden, E. P.  et al. 2007	17417056			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Genet    2007    17(3)    135-42	Temperamental fearfulness in childhood and the serotonin transporter promoter region polymorphism		182138		CDC	2007	This study extends the literature linking the short alleles of the serotonin transporter promoter region polymorphism to fear and anxiety-related traits in early childhood and adulthood, and is one of very few studies to examine the molecular genetics of preschoolers\ temperament using multiple measures of traits in a normative sample.											
153822		alcohol abuse	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Guo, G.  et al. 2007	17440951				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	Gene-lifecourse interaction for alcohol consumption in adolescence and young adulthood		182138		CDC	2007												
153824		depressive disorder, major endocrine regulation	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Jabbi, M.  et al. 2007	17453062				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2007    12(5)    483-90	Convergent genetic modulation of the endocrine stress response involves polymorphic variations of 5-HTT, COMT and MAOA		182138		CDC	2007												
153825		depression	PSYCH	PSY	Wounds and Injuries|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Chorbov, V. M.  et al. 2007	17455215				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	Relationship of 5-HTTLPR genotypes and depression risk in the presence of trauma in a female twin sample		182138		CDC	2007			trauma									
153826		anxiety disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Stein, M. B.  et al. 2007	17460615				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	European		CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	Gene-by-Environment (Serotonin Transporter and Childhood Maltreatment) Interaction for Anxiety Sensitivity, an Intermediate Phenotype for Anxiety Disorders		182138		CDC	2007	these results provide evidence of a specific genetic influence on anxiety sensitivity-an intermediate phenotype for anxiety (and depressive) disorders; this effect is modified by severity of childhood maltreatment. These findings are consistent with the notion that 5-HTTLPR operates broadly to moderate emotional responsivity to stress.Neuropsychopharmacology advance online publication, 25 April 2007; doi:10.1038/sj.npp.1301422.		maltreatment									
153827		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Zanardi, R.  et al. 2007	17466494				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Eur Neuropsychopharmacol    2007	Role of serotonergic gene polymorphisms on response to transcranial magnetic stimulation in depression		182138		CDC	2007			transcranial magnetic stimulation									
153828	Y	brain function	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Rao, H.  et al. 2007	17481593				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2007	Genetic Variation in Serotonin Transporter Alters Resting Brain Function in Healthy Individuals		182138		CDC	2007	The 5-HTTLPR genotype alters resting brain function in emotion-related regions in healthy individuals, including the amygdala and ventromedial prefrontal cortex. Such alterations suggest a broad role of the 5-HTT gene in brain function that may be associated with the genetic susceptibility for mood disorders such as depression.											
153829		depression	PSYCH	PSY	Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Kim, J. M.  et al. 2007	17482146				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			Biol Psychiatry    2007	Interactions Between Life Stressors and Susceptibility Genes (5-HTTLPR and BDNF) on Depression in Korean Elders		182138		CDC	2007	These findings suggest that environmental risk of depression is modified by at least two genes and that gene-environment interactions are found even into old age.		stress									
153830	Y	obsessive compulsive disorder	PHARMACOGENOMIC	PHARM	Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Denys, D.  et al. 2007	17503984	S/L genotype of the 5-HTTLPR			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Clin Psychiatry    2007    68(5)    747-53	Prediction of response to paroxetine and venlafaxine by serotonin-related genes in obsessive-compulsive disorder in a randomized, double-blind trial		182138		CDC	2007	The results of this study suggest that response in venlafaxine-treated OCD patients is associated with$$$ the S/L genotype of the 5-HTTLPR polymorphism and in paroxetine-treated OCD patients with the G/G genotype of the 5-HT2A polymorphism.		paroxetine venlafaxine									
153831	Y	adverse neonatal outcomes birth weight neuromotor symptoms respiratory distress syndrome, neonatal	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831		Oberlander, T. F.  et al. 2007	17519929			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2007	Infant serotonin transporter (SLC6A4) promoter genotype is associated with adverse neonatal outcomes after prenatal exposure to serotonin reuptake inhibitor medications		182138		CDC	2007			serotonin reuptake inhibitors									
153832		impulsivity mood	PHARMACOGENOMIC	PHARM	Mood Disorders|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Walderhaug, E.  et al. 2007	17544379				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Biol Psychiatry    2007	Interactive Effects of Sex and 5-HTTLPR on Mood and Impulsivity During Tryptophan Depletion in Healthy People		182138		CDC	2007	Healthy men became more impulsive, whereas healthy women showed mood reduction in response to ATD.		tryptophan depletion									
153833	Y	weight loss	PHARMACOGENOMIC	PHARM	Obesity|Weight Loss	17	17q11.1-q12	SLC6A4	25549031	25586831		Vazquez Roque, M. I.  et al. 2007	17544870				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Clin Gastroenterol Hepatol    2007	Alteration of Gastric Functions and Candidate Genes Associated With Weight Reduction in Response to Sibutramine		182138		CDC	2007	Weight reduction with sibutramine is associated with altered gastric functions and increased peptide YY and is significantly associated with SLC6A4 genotype.		sibutramine									
153835		migraine	PHARMACOGENOMIC	PHARM	Migraine without Aura	17	17q11.1-q12	SLC6A4	25549031	25586831		Asuni, C.  et al. 2007	17563839				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Headache Pain    2007	Association study between clinical response to rizatriptan and some candidate genes		182138		CDC	2007			rizatriptan									
153836	N	cognitive function	PSYCH	PSY	Stress	17	17q11.1-q12	SLC6A4	25549031	25586831		Reynolds, C. A.  et al. 2007	17564514				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Twin Res Hum Genet    2007    10(2)    241-54	Genotype-environment interactions		182138		CDC	2007	suggested that nonshared environmental influences associated with depressive symptoms may moderate the G x E relationship observed for ESR1 and APOE and longitudinal semantic memory change whereby noncarriers of putative risk alleles may be relatively more sensitive to depressionevoking environmental contexts than carriers of the risk allele.		depression life events social support									
153837	Y	irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Saito, Y. A.  et al. 2007	17564628				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurogastroenterol Motil    2007    19(6)    465-70	A genetic association study of 5-HTT LPR and GNbeta3 C825T polymorphisms with irritable bowel syndrome		182138		CDC	2007												
153839		depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Wichers, M.  et al. 2007	17579366				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	The BDNF Val(66)Met x 5-HTTLPR x child adversity interaction and depressive symptoms		182138		CDC	2007			childhood adversity									
153841		personality disorders	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831		Silva, H.  et al. 2007	17597424				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Actas Esp Psiquiatr    2007	Serotonin transporter polymorphism and fluoxetine effect on impulsiveness and aggression in borderline personality disorder		182138		CDC	2007			fluoxetine									
153842		migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Migraine without Aura|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Karwautz, A.  et al. 2007	17598758				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Cephalalgia    2007    27(7)    773-780	Family-based analysis of serotonin transporter gene polymorphisms in migraine with and without aura		182138		CDC	2007												
153843	Y	citalopram adverse effects depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Hu, X. Z.  et al. 2007	17606812	HTTLPR		promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Arch Gen Psychiatry    2007    64(7)    783-92	Association between a functional serotonin transporter promoter polymorphism and citalopram treatment in adult outpatients with major depression		182138		CDC	2007	The HTTLPR polymorphism is associated with$$$ citalopram adverse effects.		citalopram									
153844		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Hallucinations|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Kiferle, L.  et al. 2007	17614196				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2007	Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes		182138		CDC	2007												
153845		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831		Kang, R. H.  et al. 2007	17618721			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2007	Association study of the serotonin transporter promoter polymorphism and mirtazapine antidepressant response in major depressive disorder		182138		CDC	2007			mirtazapine									
153847	Y	depression	PSYCH	PSY	Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cao, M. Q.  et al. 2007	17621167	5-HTTLPR S allele			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Psychiatr Genet    2007    17(4)    233-8	Study on the interrelationship between 5-HTTLPR/G-protein beta3 subunit (C825T) polymorphisms and depressive disorder		182138		CDC	2007	These results indicated that the etiology of depressive disorder is associated with$$$ 5-HTTLPR and GNbeta3 C825T polymorphisms. Our data also suggests that an interaction effect may exist between the 5-HTTLPR S allele and GNbeta3 825T allele in increasing the risk of depressive disorder.			GNB3	GNB3   825T	SLC6A4	SLC6A4  S allele					
153849		mental retardation	DEVELOPMENTAL	DEV	Mental Retardation, X-Linked	X	Xq28	SLC6A8	152606585	152615234		Clark, A. J.  et al. 2006	16738945				Solute carrier family 6 (neurotransmitter transporter, creatine), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005629			CDC GDP info	6535	Hs.540696			Hum Genet    2006    119(6)    604-10	X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology		300036		CDC	2006												
153850		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1p33	SLC6A9	44234741	44269721		Tsai, S. J.  et al. 2006	16604304				Solute carrier family 6 (neurotransmitter transporter, glycine), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201649		China	CDC GDP info	6536	Hs.442590			J Neural Transm    2006	Association study of polymorphisms in glycine transporter with schizophrenia		601019		CDC	2006												
153851		schizophrenia	PSYCH	PSY	Schizophrenia	1	1p33	SLC6A9	44234741	44269721		Tsai, S. J.  et al. 2006	16841561				Solute carrier family 6 (neurotransmitter transporter, glycine), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201649			CDC GDP info	6536	Hs.442590			Neuropsychopharmacol Hung    2006    8(1)    17-21	Polymorphisms in glycine transporter with schizophrenia		601019		CDC	2006												
153852		methamphetamine abuse	CHEMDEPENDENCY	CHEM		1	1p33	SLC6A9	44234741	44269721		Morita, Y.  et al. 2007	17582620				Solute carrier family 6 (neurotransmitter transporter, glycine), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201649			CDC GDP info	6536	Hs.442590			Am J Med Genet B Neuropsychiatr Genet    2007	The glycine transporter 1 gene (GLYT1) is associated with methamphetamine-use disorder		601019		CDC	2007												
153853	Y	endothelial dysfunction hypertension	CARDIOVASCULAR	CARD	Hypertension	13	13q12-q14	SLC7A1	28981550	29067721		Yang, Z.  et al. 2007	17325243	SLC7A1   3\UTR			Solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003045			CDC GDP info	6541	Hs.14846			Circulation    2007	Identification of a Novel Polymorphism in the 3'UTR of the L-Arginine Transporter Gene SLC7A1. Contribution to Hypertension and Endothelial Dysfunction		104615		CDC	2007	The present study identifies a key, functionally active polymorphism in the 3\UTR of SLC7A1. As such, this polymorphism may account for the apparent link between altered endothelial function, L-arginine, and nitric oxide metabolism and predisposition to essential hypertension.											
153855		melphalan pharmacokinetics melphalan side effects	PHARMACOGENOMIC	PHARM	Lymphoma, Non-Hodgkin|Multiple Myeloma	14	14q11.2	SLC7A8	22664343	22722689		Kuhne, A.  et al. 2007	17558306				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=Y18483			CDC GDP info	23428	Hs.632348			Pharmacogenet Genomics    2007    17(7)    505-17	Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan		604235		CDC	2007	The study confirmed that these transporter genes are highly conserved, particularly in the coding sequences.											
153857		hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2q11.2	SLC9A2	102602597	102694241		Iwai, N.  et al. 2006	16982955				Solute carrier family 9 (sodium/hydrogen exchanger), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003048			CDC GDP info	6549	Hs.250083			Hypertension    2006	Extensive Genetic Analysis of 10 Candidate Genes for Hypertension in Japanese		600530		CDC	2006												
153858		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	17	17q25.1	SLC9A3R1	70256361	70277089			16519819				Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004252.1			CDC GDP info	9368	Hs.396783			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		604990		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
153860	N	simvastatin pharmacokinetics talinol pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997			16542205				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Br J Clin Pharmacol    2006    61(4)    440-50	Simvastatin does not influence the intestinal P-glycoprotein and MPR2, and the disposition of talinolol after chronic medication in healthy subjects genotyped for the ABCB1, ABCC2 and SLCO1B1 polymorphisms		604843		CDC	2006	Simvastatin does not influence the intestinal expression of P-gp and MRP2 in man. There was no pharmacokinetic interaction between talinolol and simvastatin during their chronic co-administration to healthy subjects.											
153861	Y	cholesterol	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Gerloff, T.  et al. 2006	16568260	SLCO1B1*1b and *5 haplotypes			Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Naunyn Schmiedebergs Arch Pharmacol    2006	Influence of the SLCO1B1*1b and *5 haplotypes on pravastatin's cholesterol lowering capabilities and basal sterol serum levels		604843		CDC	2006			pravastatin									
153862	P		NORMALVARIATION	NV		12	12p	SLCO1B1	21175402	21283997		Pasanen, M. K.  et al. 2006	16628434				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Eur J Clin Pharmacol    2006	Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population		604843		CDC	2006												
153863	N	cholesterol, LDL pravastatin parmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Igel, M.  et al. 2006	16678544				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2006    79(5)    419-426	Impact of the SLCO1B1 polymorphism on the pharmacokinetics and lipid-lowering efficacy of multiple-dose pravastatin		604843		CDC	2006	Despite considerably higher plasma pravastatin concentrations in carriers of an SLCO1B1 variant haplotype, there was no significant difference in the lipid-lowering efficacy of pravastatin between the variant haplotype and control groups. However, this pilot study had sufficient statistical power to detect only a large difference in lipid response between the 2 groups. Further clinical studies are warranted to characterize the impact of the SLCO1B1 polymorphism on the lipid response to pravastatin.		pravastatin									
153864		pravastatin pharmacokinetics temocapril pharmacokinetics valsartan pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Maeda, K.  et al. 2006	16678545				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2006    79(5)    427-39	Effects of organic anion transporting polypeptide 1B1 haplotype on pharmacokinetics of pravastatin, valsartan, and temocapril		604843		CDC	2006	The major clearance mechanism of pravastatin, valsartan, and temocapril appears to be similar, and OATP1B1*1b is one of the determinant factors governing the interindividual variability in the pharmacokinetics of pravastatin and, possibly, valsartan and temocapril.											
153865	Y	cholesterol, HDL cholesterol, LDL heart transplant	PHARMACOGENOMIC	PHARM	Hyperlipoproteinemia Type II	12	12p	SLCO1B1	21175402	21283997		Hedman, M.  et al. 2006	16722833	SLCO1B1 521T > C			Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Br J Clin Pharmacol    2006    61(6)    706-15	Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes		604843		CDC	2006	In children with HeFH and in paediatric cardiac transplant recipients receiving immunosuppressive medication, the -11187G > A and SLCO1B1 521T > C SNPs were associated with decreased plasma concentrations of pravastatin. These differences are opposite to those seen previously in healthy adults. The mechanisms underlying these phenomena are unclear and warrant further study.		pravastatin									
153866	P		NORMALVARIATION	NV		12	12p	SLCO1B1	21175402	21283997		Pasanen, M. K.  et al. 2006	16758257				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	Caucasian;Finnish		CDC GDP info	10599	Hs.449738			Eur J Clin Pharmacol    2006    62(6)    409-15	Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population		604843		CDC	2006	Sequence variations of SLCO1B1 occur at high frequencies in the Caucasian population.											
153867	Y	rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Zhang, W.  et al. 2006	16784736				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Chim Acta    2006	Role of BCRP 421C>A polymorphism on rosuvastatin pharmacokinetics in healthy Chinese males		604843		CDC	2006	The BCRP 421C>A polymorphism may play an important role in the pharmacokinetics of rosuvastatin in healthy Chinese males after the exclusion of impact of SLCO1B1 and CYP2C9 genetic polymorphism.											
153868	Y	nateglinide pharmacokinetics	PHARMACOGENOMIC	PHARM	Diabetes Mellitus	12	12p	SLCO1B1	21175402	21283997		Zhang, W.  et al. 2006	16796707	SLCO1B1521T > C SNP	SLCO1B1521T > C SNP might play an important role in the pharmacokinetics of nateglinide.		Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Br J Clin Pharmacol    2006	Effect of SLCO1B1 genetic polymorphism on the pharmacokinetics of nateglinide		604843		CDC	2006	Our results suggest that OATP1B1-mediated hepatic uptake of nateglinide may be the prior step for its metabolism and elimination. SLCO1B1521T > C SNP might play an important role in the pharmacokinetics of nateglinide.											
153870	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	12	12p	SLCO1B1	21175402	21283997		Xiang, X.  et al. 2006	16906022				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	Asian	Asia	CDC GDP info	10599	Hs.449738			Pharmacogenet Genomics    2006    16(9)    683-691	Pharmacogenetics of SLCO1B1 gene and the impact of *1b and *15 haplotypes on irinotecan disposition in Asian cancer patients		604843		CDC	2006	These findings suggest that (1) SLCO1B1 haplotypes may have a significant influence on the disposition of irinotecan and its metabolites in Asian cancer patients, and (2) patients with SLCO1B1*15 haplotype may be susceptible to increased sensitivity to irinotecan, which may manifest itself either by increased efficacy or toxicity or both owing to the increas											
153871		cholesterol, LDL	PHARMACOGENOMIC	PHARM	Hypercholesterolemia	12	12p	SLCO1B1	21175402	21283997		Takane, H.  et al. 2006	16917677				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			J Hum Genet    2006	Pharmacogenetic determinants of variability in lipid-lowering response to pravastatin therapy		604843		CDC	2006			pravastatin									
153872	N	pravastatin pharmcokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Niemi, M.  et al. 2006	17047488				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Pharmacogenet Genomics    2006    16(11)    801-808	Association of genetic polymorphism in ABCC2 with hepatic multidrug resistance-associated protein 2 expression and pravastatin pharmacokinetics		604843		CDC	2006	These results support the idea that the ABCC2 c.											
153873	Y	simvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Pasanen, M. K.  et al. 2006	17108811				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Pharmacogenet Genomics    2006    16(12)    873-879	SLCO1B1 polymorphism markedly affects the pharmacokinetics of simvastatin acid		604843		CDC	2006	SLCO1B1 polymorphism markedly affects the pharmacokinetics of active simvastatin acid, but has no significant effect on parent simvastatin.											
153874	P		NORMALVARIATION	NV		12	12p	SLCO1B1	21175402	21283997		Jada, S. R.  et al. 2007	17415554				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	Chinese;Indian;Asian		CDC GDP info	10599	Hs.449738			Eur J Clin Pharmacol    2007	Pharmacogenetics of SLCO1B1		604843		CDC	2007	Future studies should investigate the phenotypic effects of the c.											
153875	Y	cholesterol cholesterol, HDL cholesterol, LDL triglycerides	PHARMACOGENOMIC	PHARM	Coronary Disease	12	12p	SLCO1B1	21175402	21283997		Zhang, W.  et al. 2007	17439540	521T-->C			Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	Asian		CDC GDP info	10599	Hs.449738			Br J Clin Pharmacol    2007	SLCO1B1 521T-->C functional genetic polymorphism and lipid-lowering efficacy of multiple-dose pravastatin in Chinese coronary heart disease patients		604843		CDC	2007	s The 521T-->C polymorphism of SLCO1B1 appears to modulate significantly the total cholesterol-lowering efficacy of pravastatin in Chinese patients with CHD. Further studies are warranted to determine the extent to which SLCO1B1 genetic variation may contribute to resistance to pravastatin in Asian patients treated with standard doses of pravastatin.		pravastatin									
153876		pitavastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Ieiri, I.  et al. 2007	17460607				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2007	SLCO1B1 (OATP1B1, an Uptake Transporter) and ABCG2 (BCRP, an Efflux Transporter) Variant Alleles and Pharmacokinetics of Pitavastatin in Healthy Volunteers		604843		CDC	2007												
153877		atorvastatin pharmacokinetics rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Pasanen, M. K.  et al. 2007	17473846				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2007	Different Effects of SLCO1B1 Polymorphism on the Pharmacokinetics of Atorvastatin and Rosuvastatin		604843		CDC	2007												
153878		rosuvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Choi, J. H.  et al. 2007	17568401				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2	Korean		CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2007	Influence of OATP1B1 Genotype on the Pharmacokinetics of Rosuvastatin in Koreans		604843		CDC	2007												
153880			NORMALVARIATION	NV	Genetic Predisposition to Disease	13	13q31.1	SLITRK1	83349343	83354529		Keen-Kim, D.  et al. 2006	17035247				SLIT and NTRK-like family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052910.1	Ashkenazi;European		CDC GDP info	114798	Hs.415478			Hum Mol Genet    2006	Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses		609678		CDC	2006												
153881	Y	Tourette syndrome	PSYCH	PSY	Tourette Syndrome	13	13q31.1	SLITRK1	83349343	83354529		Deng, H.  et al. 2006	17083340				SLIT and NTRK-like family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052910.1	Caucasian		CDC GDP info	114798	Hs.415478			Acta Neurol Scand    2006    114(6)    400-2	Examination of the SLITRK1 gene in Caucasian patients with Tourette syndrome		609678		CDC	2006	The var321 and mutation(s) in the coding region of the SLITRK1 gene probably are a rare cause of TS in a Caucasian population; therefore, genetic heterogeneity of TS should be considered.											
153883	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	15	15q22.33	SMAD3	65145248	65274587		Adewoye, A. H.  et al. 2006	16886151				SMAD, mothers against DPP homolog 3 (Drosophila)				CDC GDP info	4088	Hs.36915			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		603109		CDC	2006												
153884		juvenile polyposis syndrome	OTHER	OTH	Neoplastic Syndromes, Hereditary|Peutz-Jeghers Syndrome|Precancerous Conditions|Intestinal Polyps	18	18q21.1	SMAD4	46810610	46860145		Pyatt, R. E.  et al. 2006	16436638				SMAD, mothers against DPP homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647129			CDC GDP info	4089	Hs.75862			J Mol Diagn    2006    8(1)    84-8	Mutation screening in juvenile polyposis syndrome		600993		CDC	2006												
153886	N	schizophrenia	PSYCH	PSY	Schizophrenia	9	9p22.3	SMARCA2	2005341	2183623		Sengupta, S.  et al. 2006	16749937				SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X72889	Canadian;CaucEuropean;French;Tunisian		CDC GDP info	6595	Hs.298990			BMC Genet    2006    7(1)    34	Association study of the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia		600014		CDC	2006	Results from our family-based and case-control association study suggest that there is no association between the trinucleotide repeat polymorphism within SMARCA2 and schizophrenia.											
153887	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	5	15q13	SMN1	69381105	69410105		Corcia, P.  et al. 2006	16931506				survival of motor neuron 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411		France	CDC GDP info	6606	Hs.535788			Neurology    2006	SMN1 gene, but not SMN2, is a risk factor for sporadic ALS		600354		CDC	2006	Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis.											
153888		spinal muscular atrophy	NEUROLOGICAL	NEUR	Muscular Atrophy, Spinal	5	15q13	SMN1	69381105	69410105		Sadewa, A. H.  et al. 2007	17250497				survival of motor neuron 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411	Japanese;Caucasian		CDC GDP info	6606	Hs.535788			Pediatr Int    2007    49(1)    8-10	C117T variant in the SMN1 gene found in the Japanese population		600354		CDC	2007	The C117T variant was found not only in the Caucasian population, but also in the Japanese population.											
153889		spinal muscular atrophy	NEUROLOGICAL	NEUR	Muscular Atrophy, Spinal	5	15q13	SMN1	69381105	69410105		Smith, M.  et al. 2007	17392705				survival of motor neuron 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411		Australia|New Zealand	CDC GDP info	6606	Hs.535788			Eur J Hum Genet    2007	Population screening and cascade testing for carriers of SMA		600354		CDC	2007												
153890		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	5	5q13	SMN2	69381105	69410105		Corcia, P.  et al. 2006	16931506				Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411		France	CDC GDP info	6607	Hs.202179			Neurology    2006	SMN1 gene, but not SMN2, is a risk factor for sporadic ALS		601627		CDC	2006	Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis.											
153892	N	liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Genetic Predisposition to Disease	1	1q44	SMYD3	243979266	244737237		Wang, X. Q.  et al. 2007	17431393				SET and MYND domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022743.1			CDC GDP info	64754	Hs.567571			Exp Oncol    2007    29(1)    71-3	SMYD3 tandem repeats polymorphism is not associated with the occurrence and metastasis of hepatocellular carcinoma in a Chinese population		608783		CDC	2007	SMYD3 polymorphism is not associated with the occurrence and metastasis of HCC in Chinese population.											
153893		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	20	20q13.1-q13.2	SNAI1	48032933	48038827		Yu, J. C.  et al. 2006	16502042				Snail homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005985			CDC GDP info	6615	Hs.48029			J Biomed Sci    2006	Breast cancer risk associated with genotypic polymorphism of the genes involved in the estrogen-receptor-signaling pathway		604238		CDC	2006			age at first pregnancy body mass									
153894	Y	cognitive function	PSYCH	PSY		20	20p12-p11.2	SNAP25	10147476	10236065		Gosso, M. F.  et al. 2006	16801949				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Mol Psychiatry    2006	The SNAP-25 gene is associated with cognitive ability		600322		CDC	2006												
153897		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Kim, J. W.  et al. 2007	17427194				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of parent-of-origin effects in ADHD candidate genes		600322		CDC	2007												
153898	Y	attention deficit hyperactivity disorder depressive disorder, major	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Depressive Disorder, Major	20	20p12-p11.2	SNAP25	10147476	10236065		Kim, J. W.  et al. 2007	17455213				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of variation in SNAP-25 and ADHD and relationship to co-morbid major depressive disorder		600322		CDC	2007	we report some evidence supporting the association of previously implicated SNPs (rs3746544, rs1051312) of SNAP-25 to ADHD. We further suggest that co-morbidity with MDD may enhance detection of the association between SNAP-25 and ADHD. (c) 2007 Wiley-Liss, Inc.											
153899		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Lasky-Su, J.  et al. 2007	17501935				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Ann Hum Genet    2007	Evidence for an Association of the Dopamine D5 Receptor Gene on Age at Onset of Attention Deficit Hyperactivity Disorder		600322		CDC	2007	await independent replication, these results suggest that a variant in DRD5 may affect age at onset for ADHD.											
153900		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Mizuta, I.  et al. 2006	16500997				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDP info	6622	Hs.271771			Hum Mol Genet    2006	Multiple candidate gene analysis identifies {alpha}-synuclein as a susceptibility gene for sporadic Parkinson's disease		163890		CDC	2006												
153902		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Wang, C. K.  et al. 2006	16604306			promoter	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDP info	6622	Hs.271771			J Neural Transm    2006	alpha-Synuclein promoter RsaI T-to-C polymorphism and the risk of Parkinson's disease		163890		CDC	2006												
153903	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Maraganore, D. M.et al  et al. 2006	16896109			promoter	Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDP info	6622	Hs.271771			JAMA    2006    296(6)    661-70	Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease		163890		CDC	2006	This large-scale collaborative analysis demonstrates that SNCA REP1 allele-length variability is associated with an increased risk of Parkinson disease.											
153904	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Kobayashi, H.  et al. 2006	17078049				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Japanese;Caucasian	Japan	CDC GDP info	6622	Hs.271771			Mov Disord    2006    21(12)    2157-64	Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease		163890		CDC	2006	our findings indicate that genetic variations of the alpha-synuclein gene affect the development of sporadic PD.											
153905	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Ramirez-Jirano, L. J.  et al. 2007	17199224				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Mexican		CDC GDP info	6622	Hs.271771			Rev Neurol    2007    44(1)    15-17	Frequency of the IVS4+66A-G polymorphism in the alpha-synuclein gene in patients with Parkinson's disease in north-western Mexico.		163890		CDC	2007	Association was not observed between the IVS4+66A-G polymorphism and PD.											
153907	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Parsian, A. J.  et al. 2007	17292657				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	African American;Indian		CDC GDP info	6622	Hs.271771			Parkinsonism Relat Disord    2007	Association of alpha-synuclein gene haplotypes with Parkinson's disease		163890		CDC	2007												
153908		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4q21	SNCA	90865727	90978470		Ghione, I.  et al. 2007	17335904				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Italian		CDC GDP info	6622	Hs.271771			Neurotoxicology    2007	Parkin polymorphisms and environmental exposure		163890		CDC	2007			organic solvents pesticides									
153910	N	alcohol abuse drug dependence	CHEMDEPENDENCY	CHEM	Substance-Related Disorders|Alcoholism	4	4q21	SNCA	90865727	90978470		Clarimon, J.  et al. 2007	17374033				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Caucasian;Indian;Asian		CDC GDP info	6622	Hs.271771			Alcohol Clin Exp Res    2007    31(4)    546-54	Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations		163890		CDC	2007	Despite modest support for association between multiple SNCA SNPs and several of the addictive disorders tested in this study, statistical significance disappeared after correction for multiple testing.											
153911		cognitive function	PSYCH	PSY		4	4q21	SNCA	90865727	90978470		Keri, S.  et al. 2007	17451452				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDP info	6622	Hs.271771			Genes Brain Behav    2007	Risk and protective haplotypes of the alpha-synuclein gene associated with Parkinson's disease differentially affect cognitive sequence learning		163890		CDC	2007												
153912		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	4	4q21	SNCA	90865727	90978470		Ross, O. A.  et al. 2007	17531291				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Irish		CDC GDP info	6622	Hs.271771			Mech Ageing Dev    2007	Familial genes in sporadic disease		163890		CDC	2007												
153913		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	5	5q35	SNCB	175979815	175990163		Brighina, L.  et al. 2007	17556099				Synuclein, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209029			CDC GDP info	6620	Hs.90297			Neurosci Lett    2007    420(3)    229-34	Beta-synuclein gene variants and Parkinson's disease		602569		CDC	2007												
153915	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	1	1q25	SOAT1	177529639	177591076		Klos, K. L.  et al. 2006	16763159				Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003101.4			CDC GDP info	6646	Hs.496383			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		102642		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
153916	N	cognitive decline delirium	PSYCH	PSY		1	1q25	SOAT1	177529639	177591076		Tagarakis, G. I.  et al. 2007	17593314				Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003101.4			CDC GDP info	6646	Hs.496383			Clin Res Cardiol    2007	The role of SOAT-1 polymorphisms in cognitive decline and delirium after bypass heart surgery		102642		CDC	2007	S : Our study confirmed the expected cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis.											
153917		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p13.13	SOCS1	11255774	11257540		Ni, R.  et al. 2006	16426235				Suppressor of cytokine signaling 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003745.1			CDC GDP info	8651	Hs.50640			Int J Immunogenet    2006    33(1)    7-10	Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus		603597		CDC	2006												
153918		asthma	IMMUNE	IMM	Asthma|Disease Susceptibility	16	16p13.13	SOCS1	11255774	11257540		Harada, M.  et al. 2006	17099141				Suppressor of cytokine signaling 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003745.1			CDC GDP info	8651	Hs.50640			Am J Respir Cell Mol Biol    2006	Functional Polymorphism in the Suppressor of Cytokine Signaling 1 Gene Associated With Adult Asthma		603597		CDC	2006												
153919	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q	SOCS2	92487728	92494109			16406727				Suppressor of cytokine signaling 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC070039		Japan	CDC GDP info	8835	Hs.485572			Genomics    2006	Association of single-nucleotide polymorphisms in the suppressor of cytokine signaling 2 (SOCS2) gene with type 2 diabetes in the Japanese				CDC	2006												
153920	N	body weight insulin lipids	METABOLIC	MET	Insulin Resistance|Obesity|Body Weight	17	17q25.3	SOCS3	73864456	73867753			16402267				Suppressor of cytokine signaling 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003955.3	European		CDC GDP info	9021	Hs.527973			Diabetologia    2006        1-5	Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins		604176		CDC	2006	 The results do not indicate that any of the three SNPs studied are associated with obesity, insulin measures or lipid measures.											
153921		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	17	17q25.3	SOCS3	73864456	73867753		Ni, R.  et al. 2006	16426235				Suppressor of cytokine signaling 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003955.3			CDC GDP info	9021	Hs.527973			Int J Immunogenet    2006    33(1)    7-10	Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus		604176		CDC	2006												
153923		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2p21	SOCS5	46779602	46843431		Ni, R.  et al. 2006	16426235				Suppressor of cytokine signaling 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144949			CDC GDP info	9655	Hs.468426			Int J Immunogenet    2006    33(1)    7-10	Association study of polymorphisms in SOCS family genes with type 1 diabetes mellitus		607094		CDC	2006												
153924		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.1	SOD1	31953805	31963114			16424062				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDP info	6647	Hs.443914			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		147450		CDC	2006												
153926	P	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	21	21q22.1	SOD1	31953805	31963114		Gamez, J.  et al. 2006	16674979				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Scandinavian;Scottish		CDC GDP info	6647	Hs.443914			J Neurol Sci    2006	Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population		147450		CDC	2006	The prevalence of the SOD1 mutation in FALS in Catalonia is similar to levels in other Mediterranean countries, but lower than those in reports studying the Belgian, Japanese, and Scottish populations.											
153927		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	21	21q22.1	SOD1	31953805	31963114		Oestergaard, M. Z.  et al. 2006	16868544				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDP info	6647	Hs.443914			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		147450		CDC	2006												
153928		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Disease Progression	21	21q22.1	SOD1	31953805	31963114		Corrado, L.  et al. 2006	16952453				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4	Italian		CDC GDP info	6647	Hs.443914			Neuromuscul Disord    2006	SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)		147450		CDC	2006												
153929		encephalitis, Japanese	NEUROLOGICAL	NEUR	Encephalitis, Japanese|Genetic Predisposition to Disease	21	21q22.1	SOD1	31953805	31963114		Thuong, N. T.  et al. 2006	16989689				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDP info	6647	Hs.443914			Ann Trop Med Parasitol    2006    100(7)    631-6	Polymorphisms of the gene coding for copper/zinc superoxide dismutase (SOD1) in patients with Japanese encephalitis		147450		CDC	2006												
153930	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343			16423340				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Caucasian		CDC GDP info	6648	Hs.487046			Clin Biochem    2006	Functional polymorphism in the manganese superoxide dismutase (MnSOD) gene in patients with asthma		147460		CDC	2006	Pursuant to these results, Ala-9Val polymorphism does not seem to be a significant predisposing factor for bronchial asthma in the Czech population.											
153932	N	longevity	AGING	AGE	Neoplasms|Cardiovascular Diseases	6	6q25.3	SOD2	160020138	160034343		Genkinger, J. M.  et al. 2006	16458347				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Mech Ageing Dev    2006	C47T polymorphism in manganese superoxide dismutase (MnSOD), antioxidant intake and survival		147460		CDC	2006	We did not observe an association between the C47T polymorphism in the MnSOD gene and survival.											
153933	N	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	6	6q25.3	SOD2	160020138	160034343		Young, R.  et al. 2006	16467073				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Thorax    2006	Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function		147460		CDC	2006	The 213Gly variant of the SOD3 gene may, through antioxidant or anti-inflammatory effects, confer a degree of resistance in some smokers to the development of COPD.											
153934		oxidized LDL	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Gottlieb, M. G.  et al. 2005	16475114				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Genet Mol Res    2005    4(4)    691-703	Association among oxidized LDL levels, MnSOD, apolipoprotein E polymorphisms, and cardiovascular risk factors in a south Brazilian region population		147460		CDC	2005												
153936		iron levels liver cancer	CANCER	CAN	Carcinoma, Hepatocellular|Liver Neoplasms|Liver Cirrhosis, Alcoholic	6	6q25.3	SOD2	160020138	160034343		Sutton, A.  et al. 2006	16510607				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	French		CDC GDP info	6648	Hs.487046			Cancer Res    2006    66(5)    2844-52	Genetic polymorphisms in antioxidant enzymes modulate hepatic iron accumulation and hepatocellular carcinoma development in patients with alcohol-induced cirrhosis		147460		CDC	2006	polymorphisms in antioxidant enzymes modulate hepatic iron accumulation and hepatocellular carcinoma development in French alcoholic patients with cirrhosis.											
153938		catalase activity	METABOLIC	MET		6	6q25.3	SOD2	160020138	160034343			16538174				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Caucasian;Asian		CDC GDP info	6648	Hs.487046			Pharmacogenet Genomics    2006    16(4)    279-86	Genotype-activity relationship for Mn-superoxide dismutase, glutathione peroxidase 1 and catalase in humans		147460		CDC	2006	Interindividual variability of antioxidant enzyme activity in healthy young adults was partially explained by significant associations with three known genetic polymorphisms, and was further modified by gender and ethnicity.											
153939		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343			16543247				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		147460		CDC	2006												
153940		bipolar disorder depressive disorder, major	PSYCH	PSY	Mood Disorders	6	6q25.3	SOD2	160020138	160034343		Pae, C. U.  et al. 2006	16626843				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Korean		CDC GDP info	6648	Hs.487046			Prog Neuropsychopharmacol Biol Psychiatry    2006	Manganese superoxide dismutase (MnSOD		147460		CDC	2006												
153941	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Mak, J. C.  et al. 2006	16630148				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2		Hong Kong	CDC GDP info	6648	Hs.487046			Clin Exp Allergy    2006    36(4)    440-7	Polymorphisms in manganese superoxide dismutase and catalase genes		147460		CDC	2006	This is the first report showing that SOD and catalase functional activities are not associated with their respective genetic polymorphisms but related to the presence of asthma in a Hong Kong Chinese population.											
153943		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Galecki, P.  et al. 2006	16780268				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Polish	Poland	CDC GDP info	6648	Hs.487046			Pol Merkuriusz Lek    2006    20(117)    329-32	Functional polymorphism of manganese superoxide dismutase (MnSOD) gene correlates with schizophrenia in Polish population		147460		CDC	2006												
153944		methamphetamine psychosis	CHEMDEPENDENCY	CHEM	Psychoses, Substance-Induced|Amphetamine-Related Disorders	6	6q25.3	SOD2	160020138	160034343		Nakamura, K.  et al. 2006	16807759				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Hum Genet    2006	Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations		147460		CDC	2006												
153945		chronic pelvic pain syndrome	OTHER	OTH	Prostatitis|Syndrome|Chronic Disease|Pelvic Pain	6	6q25.3	SOD2	160020138	160034343		Arisan, E. D.  et al. 2006	16847469				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Prostate Cancer Prostatic Dis    2006	Manganase superoxide dismutase polymorphism in chronic pelvic pain syndrome patients		147460		CDC	2006												
153947		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	6	6q25.3	SOD2	160020138	160034343		Oestergaard, M. Z.  et al. 2006	16868544				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		147460		CDC	2006												
153948	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Slanger, T. E.  et al. 2006	16933053	MnSOD Ala-9Val			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Caucasian;German	Germany	CDC GDP info	6648	Hs.487046			Cancer Causes Control    2006    17(8)    1025-31	Manganese superoxide dismutase Ala-9Val polymorphism, environmental modifiers, and risk of breast cancer in a German population		147460		CDC	2006	The MnSOD Ala-9Val polymorphism may contribute to an increase in breast cancer risk in the context of high alcohol consumption, however the polymorphism is not an overall risk factor for breast cancer in this primarily premenopausal population.		alcohol diet smoking (tobacco)									
153949	Y	breast cancer	CANCER	CAN	Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Cox, D. G.  et al. 2006	16945136				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			BMC Cancer    2006    6(1)    217	GenexGene interaction between MnSOD and GPX-1 and breast cancer risk		147460		CDC	2006	Polymorphisms in the GPX-1 and MnSOD genes are associated with an increased risk of breast cancer.											
153950		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	6	6q25.3	SOD2	160020138	160034343		Lightfoot, T. J.  et al. 2006	16956821				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Haematologica    2006    91(9)    1222-7	Polymorphisms in the oxidative stress genes, superoxide dismutase, glutathione peroxidase and catalase and risk of non-Hodgkin's lymphoma		147460		CDC	2006	Analysis of genetic variation in oxidative stress genes in two lymphoma case-control studies suggests a possible role for oxidative stress in the risk of NHL. The risk modification is seen predominantly for marginal zone lymphomas which frequently arise in the context of chronic inflammation. However, in order to clarify the role of oxidative stress in the e											
153952		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	6	6q25.3	SOD2	160020138	160034343		Andreassen, C. N.  et al. 2006	16966185				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		147460		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
153953		breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Silva, S. N.  et al. 2006	16969494				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Indian;Portuguese		CDC GDP info	6648	Hs.487046			Oncol Rep    2006    16(4)    781-8	Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD)		147460		CDC	2006			breast feeding									
153954		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Breast Cancer Association, = Consortium  et al. 2006	17018785				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		147460		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
153956	N	hypertension macular edema retinopathy, diabetic	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Macular Edema|Diabetes Mellitus, Type 2	6	6q25.3	SOD2	160020138	160034343		Lee, S. J.  et al. 2006	17142144				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Korean		CDC GDP info	6648	Hs.487046			Metabolism    2006    55(12)    1681-8	Association of manganese superoxide dismutase gene polymorphism (V16A) with diabetic macular edema in Korean type 2 diabetic patients		147460		CDC	2006	our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients.											
153957		radiotoxicity	OTHER	OTH	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Ahn, J.  et al. 2006	17145829				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Caucasian		CDC GDP info	6648	Hs.487046			Clin Cancer Res    2006    12(23)    7063-70	Polymorphisms in Genes Related to Oxidative Stress (CAT, MnSOD, MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer		147460		CDC	2006	Associations between BMI and radiotoxicity risk may be most apparent among women with genotypes related to higher levels of oxidative stress.		body mass									
153958		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Lan, Q.  et al. 2006	17149600				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		147460		CDC	2006												
153959	N	skin cancer, non-melanoma	CANCER	CAN	Skin Neoplasms	6	6q25.3	SOD2	160020138	160034343		Han, J.  et al. 2007	17186424				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Cancer Causes Control    2007    18(1)    79-89	Manganese superoxide dismutase polymorphism and risk of skin cancer (United States)		147460		CDC	2007	Overall, there was no significant association between this polymorphism and the risk of each type of skin cancer.		carotenoids vitamin A vitamin C Vitamin E									
153960	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.3	SOD2	160020138	160034343		Fong, C. S.  et al. 2006	17188257				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Clin Chim Acta    2006	Pesticide exposure on southwestern Taiwanese with MnSOD and NQO1 polymorphisms is associated with increased risk of Parkinson's disease		147460		CDC	2006	Susceptible variants of MnSOD and NQO1 genes may interact with occupational pesticide exposure to increase PD risk in southwestern Taiwanese.		pesticide									
153961		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	6	6q25.3	SOD2	160020138	160034343		Mollsten, A.  et al. 2007	17192491				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Swedish;Finnish		CDC GDP info	6648	Hs.487046			Diabetes    2007    56(1)    265-9	A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy		147460		CDC	2007			smoking (tobacco)									
153962	Y	schizophrenia tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Galecki, P.  et al. 2006	17217237				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Polish	Poland	CDC GDP info	6648	Hs.487046			Psychiatr Pol    2006    40(5)    937-48	Manganese superoxide dismutase gene (MnSOD) polimorphism in schizophrenics with tardive dyskinesia from central Poland		147460		CDC	2006	In the Polish population there is a statistically substantial association between schizophrenia incidence and the Val-9Val genotype in a gene for MnSOD. Schizophrenic patients having a Val-9Val genotype in the gene for MnSOD have nearly a ten times higher risk for developing TD than schizophrenics not having this genotype. Risk for developing schizophrenia f											
153963		Barrett's esophagus esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus	6	6q25.3	SOD2	160020138	160034343		Murphy, S.  et al. 2007	17277236				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Carcinogenesis    2007	A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma		147460		CDC	2007												
153964	Y	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Landi, S.  et al. 2007	17290392				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		147460		CDC	2007			asbestos									
153966	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Cox, A. et al  et al. 2007	17293864				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		147460		CDC	2007												
153968		ferritin	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Atherosclerosis|Disease Progression	6	6q25.3	SOD2	160020138	160034343		Valenti, L.  et al. 2007	17299255				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Am J Nephrol    2007    27(1)    101-107	HFE Gene Mutations and Oxidative Stress Influence Serum Ferritin, Associated with Vascular Damage, in Hemodialysis Patients		147460		CDC	2007	In hemodialysis patients, hyperferritinemia reflects a relative increase in iron availability and a decrease in iron-specific antioxidant activity, is favored by HFE mutations, and represents a risk factor for advanced cardiovascular damage.											
153969		atherosclerosis, coronary	CARDIOVASCULAR	CARD		6	6q25.3	SOD2	160020138	160034343		Chi, D. S.  et al. 2006	17299970				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(9)    808-13	Study of the association between paraoxonase1 55 Met/Leu, paraoxonase2 148 Ala/Gly and manganese superoxide dismutase (MnSOD) 9 Ala/Val genetic polymorphisms and coronary heart disease		147460		CDC	2006	The antioxidative ability decreased, while lipid superoxide increased in CHD patients.											
153970		diabetic nephropathy diabetic neuropathy	RENAL	REN		6	6q25.3	SOD2	160020138	160034343		El Masry, T. M.  et al. 2005	17308617				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Rev Diabet Stud    2005    2(2)    70-74	Manganese Superoxide Dismutase Alanine to Valine Polymorphism and Risk of Neuropathy and Nephropathy in Egyptian Type 1 Diabetic Patients		147460		CDC	2005												
153971	P		NORMALVARIATION	NV		6	6q25.3	SOD2	160020138	160034343		Shao, J.  et al. 2007	17331249				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			BMC Med Genet    2007    8(1)    7	SOD2 polymorphisms		147460		CDC	2007	Exon trapping can unmask in vitro splicing differences caused by a 10T/9T intron 3 polymorphism. Given the recent evidence that SOD2 is in a region on chromosome 6 linked to susceptibility to hypertension, it will be of interest to investigate possible associations of this polymorphism with cardiovascular disorders.											
153972	N	cirrhosis iron levels liver cancer	CANCER	CAN	Hepatitis C|Carcinoma, Hepatocellular|Liver Neoplasms|Iron Overload	6	6q25.3	SOD2	160020138	160034343		Nahon, P.  et al. 2007	17336594				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	French		CDC GDP info	6648	Hs.487046			Clin Gastroenterol Hepatol    2007	Manganese Superoxide Dismutase Dimorphism and Iron Overload, Hepatocellular Carcinoma, and Death in Hepatitis C Virus-Infected Patients		147460		CDC	2007	Contrary to previous findings in French alcoholic patients, the Ala-encoding MnSOD allele is represented equally in controls and patients with HCV-related cirrhosis, and it does not significantly influence the risks of liver iron overload, HCC, or death in these patients.											
153975	Y	liver injury, drug-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Drug Toxicity|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Huang, Y. S.  et al. 2007	17400324				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			J Hepatol    2007	Genetic polymorphisms of manganese superoxide dismutase, NAD(P)H		147460		CDC	2007	The MnSOD mutant C allele may increase the susceptibility to DILI, and GSTM1 null genotype may be related to anti-tuberculosis drug-induced hepatotoxicity. Determination of the MnSOD and GSTM1 genotypes may help identify patients at high risk for DILI.											
153976	N	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Ho, J. C.  et al. 2006	17409931				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			J Thorac Oncol    2006    1(7)    648-53	Manganese superoxide dismutase and catalase genetic polymorphisms, activity levels, and lung cancer risk in Chinese in Hong Kong		147460		CDC	2006	The common Val16Ala MnSOD polymorphism and C-T substitution in the promoter region of the catalase gene do not confer increased or reduced risk of lung cancer in Chinese in Hong Kong.											
153977		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Dick, F.  et al. 2007	17449559				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	European		CDC GDP info	6648	Hs.487046			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		147460		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
153978	N	pseudoexfoliation syndrome	OTHER	OTH	Exfoliation Syndrome	6	6q25.3	SOD2	160020138	160034343		Yuce, H.  et al. 2007	17453961				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Curr Eye Res    2007    32(4)    387-91	Lack of association between pseudoexfoliation syndrome and manganese superoxide dismutase polymorphism		147460		CDC	2007	These results suggest no major modifying role for the Mn-SOD gene polymorphism in patients with pseudoexfoliation syndrome.											
153979	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Ergen, H. A.  et al. 2007	17465268				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Turkish		CDC GDP info	6648	Hs.487046			Anticancer Res    2007    27(2)    1227-30	Effects of manganase superoxide dismutase Ala-9Val polymorphism on prostate cancer		147460		CDC	2007	The results of our study of Turkish prostate cancer patients suggest that mutation of the MnSOD gene may be an important risk factor for prostate cancer.											
153980	Y	diabetic nephropathy diabetic neuropathy	RENAL	REN		6	6q25.3	SOD2	160020138	160034343		El Masry, T. M.  et al. 2005	17491681	Ala(-9)Val substitution in the Mn-SOD2			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Rev Diabet Stud    2005    2(2)    70-4	Manganese superoxide dismutase alanine to valine polymorphism and risk of neuropathy and nephropathy in egyptian type 1 diabetic patients		147460		CDC	2005	Ala(-9)Val substitution in the Mn-SOD2 gene was associated with DN in Egyptian diabetic children but not a significant factor in diabetic patients with nephropathy.											
153981	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Choi, J. Y.  et al. 2007	17548672				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1115-20	Polymorphisms in oxidative stress-related genes are not associated with prostate cancer risk in heavy smokers		147460		CDC	2007	it does not seem that variants in MnSOD, CAT, or GPX1 have an influence on prostate cancer risk in this cohort of men who were smokers or exposed to asbestos, although it is possible that cumulative defects in protection from oxidative stress may result in increased risk of the disease.											
153983		catalase activity chronic obstructive pulmonary disease/COPD	METABOLIC	MET	Pulmonary Disease, Chronic Obstructive	6	6q25.3	SOD2	160020138	160034343		Mak, J. C.  et al. 2007	17567676				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Eur Respir J    2007	Polymorphisms and functional activity in SOD and catalase genes in smokers with COPD		147460		CDC	2007												
153984	N	Barrett esophagus esophageal cancer	CANCER	CAN	Adenocarcinoma|Esophageal Neoplasms|Barrett Esophagus|Esophagitis, Peptic|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		di Martino, E.  et al. 2007	17575500				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Genet Med    2007    9(6)    341-347	The NAD(P)H		147460		CDC	2007	Overall, the results of this study suggest that the NQO1 TT genotype may offer protection from reflux complications such as Barrett esophagus and esophageal adenocarcinoma.											
153985		sepsis	INFECTION	INF	Sepsis	6	6q25.3	SOD2	160020138	160034343		Elsakka, N. E.  et al. 2007	17577737				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Free Radic Res    2007    41(7)    770-8	Polymorphism in the manganese superoxide dismutase gene		147460		CDC	2007												
153986		schizophrenia tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Pae, C. U.  et al. 2007	17582511				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Korean		CDC GDP info	6648	Hs.487046			Psychiatry Res    2007	Manganese superoxide dismutase (MnSOD		147460		CDC	2007												
153987		breast cancer	CANCER	CAN		6	6q25.3	SOD2	160020138	160034343		Justenhoven, C.  et al. 2007	17588204				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	German		CDC GDP info	6648	Hs.487046			Breast Cancer Res Treat    2007	Breast cancer		147460		CDC	2007			body mass									
153988	Y	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	4	4p16.3-q21	SOD3	24406182	24411565		Young, R.  et al. 2006	16467073	SOD3  213Gly			Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDP info	6649	Hs.2420			Thorax    2006	Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function		185490		CDC	2006	The 213Gly variant of the SOD3 gene may, through antioxidant or anti-inflammatory effects, confer a degree of resistance in some smokers to the development of COPD.											
153989	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	4	4p16.3-q21	SOD3	24406182	24411565		Nakao, K.  et al. 2007	17296902				Superoxide dismutase 3, extracellular	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003102.1			CDC GDP info	6649	Hs.2420			Arch Ophthalmol    2007    125(2)    246-51	Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease		185490		CDC	2007	The manganese SOD Val16 allele is associated with$$$ the development of BD in Japan.											
153990		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q24.2	SORL1	120828129	121005612		Rogaeva, E et al  et al. 2007	17220890				Sortilin-related receptor, L(DLR class) A repeats-containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003105			CDC GDP info	6653	Hs.368592			Nat Genet    2007	The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease		602005		CDC	2007												
153992		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q21	SOS2	49654811	49767751		Hamilton, G.  et al. 2007	17440948				Son of sevenless homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117261			CDC GDP info	6655	Hs.592326			Am J Med Genet B Neuropsychiatr Genet    2007	Candidate gene association study of insulin signaling genes and Alzheimer's disease		601247		CDC	2007												
153994		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	22	22q13.1	SOX10	36698264	36713375		Sangkhathat, S.  et al. 2006	17009072				SRY (sex determining region Y)-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006941.3	Asian		CDC GDP info	6663	Hs.376984			J Hum Genet    2006	Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients		602229		CDC	2006												
153995	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q13.1	SOX10	36698264	36713375		Maeno, N.  et al. 2007	17621166				SRY (sex determining region Y)-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006941.3			CDC GDP info	6663	Hs.376984			Psychiatr Genet    2007    17(4)    227-231	Association of SOX10 with schizophrenia in the Japanese population		602229		CDC	2007	This study suggests that the SOX10 gene is related to the development of schizophrenia in the Japanese population.											
153996		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	2	2q37.1	SP100	230989114	231118561		Park, J. W.  et al. 2006	16415175				SP100 nuclear antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001080391			CDC GDP info	6672	Hs.369056			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		604585		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
153997		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q37.1	SP110	230741895	230792932		Szeszko, J. S.  et al. 2006	17149599				SP110 nuclear body protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004509.2			CDC GDP info	3431	Hs.145150			Hum Genet    2006	Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis		604457		CDC	2006												
153998	N	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q37.1	SP110	230741895	230792932		Babb, C.  et al. 2007	17287948				SP110 nuclear body protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004509.2	South African		CDC GDP info	3431	Hs.145150			Hum Genet    2007	SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population		604457		CDC	2007												
154000	N	spastic paralysis	NEUROLOGICAL	NEUR	Spastic Paraplegia, Hereditary	2	2p24-p21	SPAST	32142183	32236210		Crippa, F.  et al. 2006	16682546				spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946.3	Italian		CDC GDP info	6683	Hs.468091			Arch Neurol    2006    63(5)    750-5	Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia		604277		CDC	2006	The overall rate of mutation in the SPG4 gene within our sample was 22%, rising to 26% when only patients with pure HSP were considered. The negative result obtained in 15 patients without mutations in SPG4 in whom 4 other genes were analyzed (SPG3A, SPG6, SPG10, and SPG13) indicate that these genes are not frequently mutated in sporadic pure HSP.											
154001	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	2	2p24-p21	SPAST	32142183	32236210		Deluca, G. C.  et al. 2007	17420921				spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946.3			CDC GDP info	6683	Hs.468091			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		604277		CDC	2007												
154002		spastic paralysis	NEUROLOGICAL	NEUR	Spastic Paraplegia, Hereditary	2	2p24-p21	SPAST	32142183	32236210		Erichsen, A. K.  et al. 2007	17594340				spastin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014946.3	Norwegian;Norwegian		CDC GDP info	6683	Hs.468091			Eur J Neurol    2007    14(7)    809-14	Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia		604277		CDC	2007												
154003	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	13	13q13.3	SPG20	35773774	35842290		Deluca, G. C.  et al. 2007	17420921				Spastic paraplegia 20 (Troyer syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015087			CDC GDP info	23111	Hs.440414			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		607111		CDC	2007												
154004	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	14	14q22.1	SPG3A	50069766	50169141		Deluca, G. C.  et al. 2007	17420921				Spastic paraplegia 3A (autosomal dominant)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF444143			CDC GDP info	51062	Hs.584905			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		606439		CDC	2007												
154005	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	16	16q24.3	SPG7	88102305	88151675		Deluca, G. C.  et al. 2007	17420921				Spastic paraplegia 7 (pure and complicated autosomal recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003119			CDC GDP info	6687	Hs.185597			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		602783		CDC	2007												
154006	Y	pancreatitis, acute pancreatitis, chronic	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease|Recurrence	5	5q32	SPINK1	147184338	147191453		Sobczynska-Tomaszewska, A.  et al. 2006	16954950				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			J Pediatr Gastroenterol Nutr    2006    43(3)    299-306	Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis		167790		CDC	2006	PRSS1 defects seem to be causative for pancreatitis, whereas defects in SPINK1 are suggested to be associated with the disease.											
154007	Y	pancreatitis	OTHER	OTH	Pancreatitis|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Shimosegawa, T.  et al. 2006	16958672				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			J Gastroenterol Hepatol    2006    21 Suppl 3    S47-51	SPINK1 gene mutations and pancreatitis in Japan		167790		CDC	2006	in Japan the [-215G > A; IVS3 + 2T > C] mutation in the SPINK1 gene may form a unique genetic background for pancreatitis.											
154009		pancreatitis, chronic pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis|Acute Disease|Chronic Disease	5	5q32	SPINK1	147184338	147191453		Keiles, S.  et al. 2006	17003641				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			Pancreas    2006    33(3)    221-7	Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis (GT)		167790		CDC	2006	Comprehensive testing of the CFTR, PRSS1, and SPINK1 genes identified genetic variants in nearly half of all subjects considered by their physicians as candidates for genetic testing.											
154010	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Piepoli, A.  et al. 2006	17072959				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Italian	Italy	CDC GDP info	6690	Hs.407856			World J Gastroenterol    2006    12(39)    6343-6348	Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients		167790		CDC	2006	UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.											
154011		fibro-calculous pancreatid diabetes pancreatitis, tropical calcific	METABOLIC	MET	Pancreatitis, Chronic|Calcinosis|Diabetes Mellitus|Chromosome Deletion|Disease Progression|Genetic Predisposition to Disease|Fibrosis	5	5q32	SPINK1	147184338	147191453		Bhaskar, S.  et al. 2006	17163998				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			BMC Gastroenterol    2006    6(1)    42	Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis		167790		CDC	2006	We conclude that the ACE insertion/deletion variant does not show any significant association with the pathogenesis, fibrosis and progression of tropical calcific pancreatitis and the fibro-calculous pancreatic diabetes.											
154012	Y	pancreatitis, chronic	IMMUNE	IMM	Pancreatic Neoplasms|Pancreatitis, Alcoholic|Pancreatitis, Chronic	5	5q32	SPINK1	147184338	147191453		Masamune, A.  et al. 2007	17238043				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			J Gastroenterol    2007    42 Suppl 17    135-40	Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis		167790		CDC	2007	SPINK1 mutations were associated with idiopathic and familial CP, whereas the contribution was less evident in alcoholic CP.											
154013		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Wapenaar, M. C.  et al. 2007	17333166				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2			CDC GDP info	6690	Hs.407856			Immunogenetics    2007	The SPINK gene family and celiac disease susceptibility		167790		CDC	2007			diet									
154014		pancreatitis, recurrent	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Tzetis, M.  et al. 2007	17489851				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	Greek		CDC GDP info	6690	Hs.407856			Clin Genet    2007    71(5)    451-7	Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis		167790		CDC	2007												
154016		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	9	9p13.3	SPINK4	33230195	33238565		Wapenaar, M. C.  et al. 2007	17333166				Serine peptidase inhibitor, Kazal type 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AA502919			CDC GDP info	27290	Hs.555934			Immunogenetics    2007	The SPINK gene family and celiac disease susceptibility				CDC	2007			diet									
154017		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	5	5q32	SPINK5	147423758	147497120			16519819				Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2			CDC GDP info	11005	Hs.331555			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		605010		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
154019		infertility, male	REPRODUCTION	REP	Infertility, Male	20	20q13.2-q13.3	SPO11	55338237	55352456			16169419				SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF169385			CDC GDP info	23626	Hs.159737			Fertil Steril    2005    84(3)    758-60	Screening the SPO11 and EIF5A2 genes in a population of infertile men		605114		CDC	2005												
154020	Y	asthma IgE	IMMUNE	IMM	Asthma|Multiple Sclerosis|Lupus Erythematosus, Systemic|Hypersensitivity	4	4q21-q25	SPP1	89115825	89123587		Tanino, Y.  et al. 2006	16433860				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDP info	6696	Hs.313			Clin Exp Allergy    2006    36(2)    219-25	Sequence variants of the secreted phosphoprotein 1 gene are associated with total serum immunoglobulin E levels in a Japanese population		166490		CDC	2006	These findings suggest that genetic polymorphisms in SPP1 may play a role in controlling basal levels of total serum IgE, independent of atopy.											
154021	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Wohlfahrt, J. C.  et al. 2006	16512757				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDP info	6696	Hs.313			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		166490		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
154022	Y	intima-media thickness	CARDIOVASCULAR	CARD	Brain Ischemia|Carotid Artery Diseases|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Brenner, D.  et al. 2006	16741188				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1		France	CDC GDP info	6696	Hs.313			Stroke    2006	Cytokine Polymorphisms Associated With Carotid Intima-Media Thickness in Stroke Patients		166490		CDC	2006	The OPN and MCP-1 genes, coding for 2 cytokines with known roles in atherosclerosis, may contribute to increased carotid IMT and warrant further study.											
154024	Y	pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum	4	4q21-q25	SPP1	89115825	89123587		Hendig, D.  et al. 2007	17384004			promoter	Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDP info	6696	Hs.313			Clin Chem    2007	SPP1 Promoter Polymorphisms		166490		CDC	2007	Polymorphisms in the SPP1 promoter are secondary genetic risk factors contributing to PXE susceptibility.											
154026	Y	hepatitis B liver cancer	CANCER	CAN		4	4q21-q25	SPP1	89115825	89123587		Shin, H. D.  et al. 2007	17496055				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Korean		CDC GDP info	6696	Hs.313			Int J Epidemiol    2007	SPP1 polymorphisms associated with HBV clearance and HCC occurrence		166490		CDC	2007	Our findings suggest that SPP1 polymorphisms might be among the genetic factors for HBV clearance and/or HCC occurrence.											
154027	Y	nephrolithiasis	METABOLIC	MET	Nephrolithiasis|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Gao, B.  et al. 2007	17519954				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDP info	6696	Hs.313			Kidney Int    2007	Association of osteopontin gene haplotypes with nephrolithiasis		166490		CDC	2007												
154028	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease	2	2p14-p12	SPR	72968055	72972794		Sharma, M.  et al. 2006	16443856				Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK222942	European;German	Germany	CDC GDP info	6697	Hs.301540			J Med Genet    2006	The Sepiapterin Reductase Gene Region Reveals Association in the PARK3 locus		182125		CDC	2006	DNA polymorphisms in a highly intercorrelated LD block, which includes the SPR gene, appear to be associated with both sporadic and familial Parkinson\s disease. This confirms a previous study showing that SPR potentially modulates the onset of or risk for Parkinson\s disease.											
154029	Y	hirsutism polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism	5	5p15	SRD5A1	6686499	6722675		Goodarzi, M. O.  et al. 2006	16849416				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2			CDC GDP info	6715	Hs.552			J Clin Endocrinol Metab    2006	Variants in the 5-Alpha-Reductase Type 1 and Type 2 Genes Are Associated with Polycystic Ovary Syndrome and the Severity of Hirsutism in Affected Women		184753		CDC	2006	This study presents genetic evidence suggesting an important role of both isoforms of 5alpha-reductase in the pathogenesis of PCOS. That only SRD5A1 haplotypes were associated with hirsutism suggests that only this isoform is important in the hair follicle.											
154030		bone density	METABOLIC	MET		5	5p15	SRD5A1	6686499	6722675		Zarrabeitia, M. T.  et al. 2007	17218734				Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001047.2			CDC GDP info	6715	Hs.552			Eur J Endocrinol    2007    156(1)    117-22	Adiposity, estradiol, and genetic variants of steroid-metabolizing enzymes as determinants of bone mineral density		184753		CDC	2007	In conclusion, the results of this study point toward body weight and estradiol levels as major factors determining BMD both in women and in men.											
154031			NORMALVARIATION	NV		2	2p23	SRD5A2	31603159	31659544		Hamajima, N.  et al. 2002	12164325				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		607306		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
154033		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Corder, E. H.  et al. 2006	16608396				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		607306		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
154034		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Sobti, R. C.  et al. 2006	16716118				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Indian		CDC GDP info	6716	Hs.458345			DNA Cell Biol    2006    25(5)    287-94	CYP17, SRD5A2, CYP1B1, and CYP2D6 Gene Polymorphisms with Prostate Cancer Risk in North Indian Population		607306		CDC	2006												
154035	P	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Veronique-Baudin, J.  et al. 2006	16821341				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Prog Urol    2006    16(3)    303-10	Case-control study of the genes of receptors of the androgens of vitamin-D and of 5-alphareductase in a population of Afro-Caribbean population with prostate cancer		607306		CDC	2006	This study demonstrated results that differ from those observed for other populations with a similar ethnic origin.											
154036	N	hirsutism polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Hirsutism	2	2p23	SRD5A2	31603159	31659544		Goodarzi, M. O.  et al. 2006	16849416				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			J Clin Endocrinol Metab    2006	Variants in the 5-Alpha-Reductase Type 1 and Type 2 Genes Are Associated with Polycystic Ovary Syndrome and the Severity of Hirsutism in Affected Women		607306		CDC	2006	This study presents genetic evidence suggesting an important role of both isoforms of 5alpha-reductase in the pathogenesis of PCOS. That only SRD5A1 haplotypes were associated with hirsutism suggests that only this isoform is important in the hair follicle.											
154037		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Okugi, H.  et al. 2006	16859836				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Cancer Detect Prev    2006	Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population		607306		CDC	2006	Genetic polymorphisms of the genes involved in androgen metabolism and signaling were significantly associated with familial prostate cancer risk.											
154038		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Lindstrom, S.  et al. 2006	17108148				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Cancer Res    2006    66(22)    11077-11083	Germ-Line Genetic Variation in the Key Androgen-Regulating Genes Androgen Receptor, Cytochrome P450, and Steroid-5-{alpha}-Reductase Type 2 Is Important for Prostate Cancer Development		607306		CDC	2006												
154039		alopecia, androgenetic prostate cancer sex hormones	CANCER	CAN	Prostatic Neoplasms|Alopecia|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Hayes, V. M.  et al. 2006	17136762				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Int J Cancer    2006	5alpha-Reductase type 2 gene variant associations with prostate cancer risk, circulating hormone levels and androgenetic alopecia		607306		CDC	2006												
154041	Y	prostate cancer prostate specific antigen	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Onen, I. H.  et al. 2007	17328668				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Turkish		CDC GDP info	6716	Hs.458345			DNA Cell Biol    2007    26(2)    100-7	The Association of 5alpha-Reductase II (SRD5A2) and 17 Hydroxylase (CYP17) Gene Polymorphisms with Prostate Cancer Patients in The Turkish Population		607306		CDC	2007												
154042	P		NORMALVARIATION	NV		2	2p23	SRD5A2	31603159	31659544		Giwercman, C.  et al. 2007	17376218				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Int J Androl    2007	Polymorphisms in genes regulating androgen activity among prostate cancer low-risk Inuit men and high-risk Scandinavians		607306		CDC	2007												
154043	Y	prostate cancer	CANCER	CAN		2	2p23	SRD5A2	31603159	31659544		Cussenot, O.  et al. 2007	17448593				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Caucasian;French		CDC GDP info	6716	Hs.458345			Eur Urol    2007	Low-Activity V89L Variant in SRD5A2 Is Associated with Aggressive Prostate Cancer Risk		607306		CDC	2007	Our data confirm in a large and homogeneous Caucasian French population that the low-activity V89L variant is associated with an increased risk of aggressive prostate cancer. These results corroborate that long-term exposure to 5A2 inhibitors (chemoprevention) must be evaluated in terms of risk of prostate cancer adverse effects.											
154045		breast cancer	CANCER	CAN		2	2p23	SRD5A2	31603159	31659544		Justenhoven, C.  et al. 2007	17588204				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	German		CDC GDP info	6716	Hs.458345			Breast Cancer Res Treat    2007	Breast cancer		607306		CDC	2007			body mass									
154046	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17p11.2	SREBF1	17656110	17681050		Harding, A. H.  et al. 2006	17019602				Sterol regulatory element binding transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001005291.1			CDC GDP info	6720	Hs.592123			Diabetologia    2006    49(11)    2642-8	Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes		184756		CDC	2006	 In summary, we replicated our previous finding and found evidence for SNPs in the 5\ region of the SREBF1c gene to be associated with the risk of type 2 diabetes and plasma glucose concentration.											
154047	N	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	22	22q13	SREBF2	40559051	40633255		Klos, K. L.  et al. 2006	16763159				Sterol regulatory element binding transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004599.2			CDC GDP info	6721	Hs.443258			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		600481		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
154049		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3q28	SST	188869387	188870895		Wagner, K.  et al. 2006	16606630				Somatostatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001048.3	German;Polish		CDC GDP info	6750	Hs.12409			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		182450		CDC	2006												
154050		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q24	SSTR2	68672754	68679657		Wagner, K.  et al. 2006	16606630				Somatostatin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001050.2	German;Polish		CDC GDP info	6752	Hs.514451			Carcinogenesis    2006	Polymorphisms in genes involved in GH1 release and their association with breast cancer risk		182452		CDC	2006												
154051		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	17		ST6GALNAC2	72073076	72093524		Li, G. S.  et al. 2007	17480010			promoter	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	10610	Hs.592105			Hum Mutat    2007	Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy				CDC	2007												
154052	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	15	15q26	ST8SIA2	90738143	90812962		Tao, R.  et al. 2006	17126533				ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006011.3			CDC GDP info	8128	Hs.302341			Schizophr Res    2006	Positive association between SIAT8B and schizophrenia in the Chinese Han population		602546		CDC	2006												
154054		cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q21.31	STAT3	37718868	37794039		Zhang, L.  et al. 2006	16807407				Signal transducer and activator of transcription 3 (acute-phase response factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139276.2			CDC GDP info	6774	Hs.463059			J Am Soc Nephrol    2006	Haplotype of Signal Transducer and Activator of Transcription 3 Gene Predicts Cardiovascular Disease in Dialysis Patients		102582		CDC	2006												
154055	Y	kidney cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Renal Cell|Kidney Neoplasms|Neoplasm Metastasis	17	17q21.31	STAT3	37718868	37794039		Ito, N.  et al. 2007	17602083				Signal transducer and activator of transcription 3 (acute-phase response factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139276.2			CDC GDP info	6774	Hs.463059			J Clin Oncol    2007    25(19)    2785-91	STAT3 Polymorphism Predicts Interferon-Alfa Response in Patients With Metastatic Renal Cell Carcinoma		102582		CDC	2007	The present study suggested that the STAT3 polymorphism is a useful diagnostic marker to predict the response to IFN-alpha therapy in patients with MRCC. An efficient response marker for IFN-alpha needs to be utilized to establish individual optimal treatment strategies, even when newer drug therapies are used as first line treatments for MRCC.		interferon									
154057		height	DEVELOPMENTAL	DEV		17	17q11.2	STAT5B	37604720	37681950		Lettre, G.  et al. 2007	17546465				Signal transducer and activator of transcription 5B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012448			CDC GDP info	6777	Hs.632256			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		604260		CDC	2007												
154058	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Chang, Y. T.  et al. 2006	16681592				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDP info	6778	Hs.524518			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		601512		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
154059		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Guglielmi, L.  et al. 2006	16867043			promoter	Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDP info	6778	Hs.524518			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		601512		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
154060	N	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Zhu, J.  et al. 2006	17074026				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3		China	CDC GDP info	6778	Hs.524518			J Gastroenterol Hepatol    2006    21(12)    1854-7	Distribution of signal transducer and activator of transcription 6 gene G2964A polymorphism in Chinese patients with ulcerative colitis		601512		CDC	2006	The STAT6 G2964A polymorphism is not involved in the genetic susceptibility to ulcerative colitis in Chinese patients.											
154062	Y	endometriosis	REPRODUCTION	REP	Infertility|Endometriosis|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Bhanoori, M.  et al. 2007	17213269	STAT6 G2964A 3\-UTR polymorphism		3' untranslated region	Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3	Indian		CDC GDP info	6778	Hs.524518			Hum Reprod    2007	The G2964A 3'-untranslated region polymorphism of the signal transducer and activator of transcription 6 gene is associated with endometriosis in South Indian women		601512		CDC	2007	We report for the first time an association between the STAT6 G2964A 3\-UTR polymorphism and endometriosis in South Indian women. This finding suggests that STAT6 may contribute to disease susceptibility in endometriosis, which carries an extra interest as the gene lies in a region which has been implicated, albeit weakly, in a previous genomewide scan.											
154063	Y	Graves' disease IgE	IMMUNE	IMM	Graves Disease	12	12q13	STAT6	55775459	55791428		Yabiku, K.  et al. 2007	17362266				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDP info	6778	Hs.524518			Clin Exp Immunol    2007	Polymorphisms of interleukin (IL)-4 receptor alpha and signal transducer and activator of transcription-6 (Stat6) are associated with increased IL-4Ralpha-Stat6 signalling in lymphocytes and elevated serum IgE in patients with Graves' disease		601512		CDC	2007												
154064	N	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	12	12q13	STAT6	55775459	55791428		Li, Y.  et al. 2007	17532201				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDP info	6778	Hs.524518			Respir Med    2007	Polymorphisms of STAT-6, STAT-4 and IFN-gamma genes and the risk of asthma in Chinese population		601512		CDC	2007	Our findings suggest that STAT-4 T90089C and IFN-gamma T874A polymorphisms might be the genetic factors for the risk of asthma in the Chinese population. In addition, the significant interactions among STAT-6 G2964A, STAT-4 T90089C and IFN-gamma T874A may increase an individual\s susceptibility and contribute to the pathogenesis of asthma.											
154065	N	Alzheimer's disease	NEUROLOGICAL	NEUR		17	17q21.1	STH	41432482	41432869		Zuo, L.  et al. 2006	16603077				saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY179170	European		CDC GDP info	246744	Hs.569810			Behav Brain Funct    2006    2(1)    13	Variation at APOE and STH loci and Alzheimer's disease		607067		CDC	2006	This study confirmed that the epsilon4 allele is a dose-response risk factor for AD and the epsilon4/epsilon4 genotype was associated with a significantly earlier age of onset. Moreover, we found that the epsilon2 allele was a dose-response protective factor for AD and the epsilon3 allele exerted a weaker dose-response protective effect for risk of AD compar											
154066	N	Alzheimer's disease dementia, frontotemporal Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Alzheimer Disease|Genetic Predisposition to Disease	17	17q21.1	STH	41432482	41432869		Johansson, A.  et al. 2005	16909000				saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY179170			CDC GDP info	246744	Hs.569810			Neurodegener Dis    2005    2(1)    28-35	TAU Haplotype and the Saitohin Q7R Gene Polymorphism Do Not Influence CSF Tau in Alzheimer's Disease and Are Not Associated with Frontotemporal Dementia or Parkinson's Disease		607067		CDC	2005	We found no evidence that could support a major pathogenic role of STH and TAU haplotype in AD, FTD or PD.											
154068		lung cancer	CANCER	CAN	Carcinoma|Lung Neoplasms	19	19p13.3	STK11	1156797	1179434		Matsumoto, S.  et al. 2007	17384680				Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			CDC GDP info	6794	Hs.515005			Oncogene    2007	Prevalence and specificity of LKB1 genetic alterations in lung cancers		602216		CDC	2007												
154070		preeclampsia	REPRODUCTION	REP	Fetal Growth Retardation|Pre-Eclampsia	10	10q21.3	STOX1	70257386	70325215		Berends, A.  et al. 2007	17617193				Storkhead box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY842014			CDC GDP info	219736	Hs.37636			BJOG    2007	STOX1 gene in pre-eclampsia and intrauterine growth restriction		609397		CDC	2007												
154071	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	X	Xp22.32	STS	7075543	7282682		Goodarzi, M. O.  et al. 2007	17426092				Steroid sulfatase (microsomal), arylsulfatase C, isozyme S	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M16505			CDC GDP info	412	Hs.522578			J Clin Endocrinol Metab    2007	Genes for Enzymes Regulating DHEA Sulfonation are Associated with Levels of DHEA-Sulfate in Polycystic Ovary Syndrome		308100		CDC	2007	This study presents genetic evidence suggesting a potential role of SULT2A1, but not STS, in the inherited AA excess of PCOS.											
154072		endometrial cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Endometrial Neoplasms|Neoplasms, Hormone-Dependent|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367			16402077				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Caucasian		CDC GDP info	6817	Hs.567342			Pharmacogenomics J    2006	Estrogen-metabolizing gene polymorphisms in the assessment of female hormone-dependent cancer risk		171150		CDC	2006												
154073	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367			16425401				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			World J Gastroenterol    2005    11(43)    6875-9	Polymorphisms in sulfotransferase 1A1 and glutathione S-transferase P1 genes in relation to colorectal cancer risk and patients' survival		171150		CDC	2005	Polymorphism in SULT1A1 may predispose to colorectal cancer and GSTP1 may be a biological indicator of prognosis in the patients.											
154074		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Kellen, E.  et al. 2007	16504378				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			Cancer Lett    2007    245(1-2)    51-60	Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk		171150		CDC	2007			aromatic amines smoking (tobacco)									
154076	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic	16	16p12.1	SULT1A1	28524416	28542367			16637266				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Russian	Russia	CDC GDP info	6817	Hs.567342			Mol Biol (Mosk)    2006    40(2)    263-70	Association of polymorphisms in SULT1A1 and UGT1A1 Genes with breast cancer risk and phenotypes in Russian women		171150		CDC	2006												
154077		breast cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Hu, M. B.  et al. 2006	16875543				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(4)    351-5	Study on the relationship between polymorphisms of genes (CYP17, CYP19 and SULT1A1) and susceptibility to breast cancer in Chinese women		171150		CDC	2006	This study indicated that the polymorphisms of estrogen-metabolizing genes were related to breast cancer.											
154078		colon polyps	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Goode, E. L.  et al. 2006	16926176				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Caucasian		CDC GDP info	6817	Hs.567342			Carcinogenesis    2006	Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps		171150		CDC	2006			meat smoking (tobacco)									
154079		bladder cancer	PHARMACOGENOMIC	PHARM	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Fortuny, J.  et al. 2006	16985032				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1696-702	Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain		171150		CDC	2006	Regular use of nonaspirin NSAIDs was associated with a reduced risk of bladder cancer, which was not modified by polymorphisms in the NSAID-metabolizing gene CYP2C9. We found no evidence of an overall effect for paracetamol or aspirin use.		acetaminophen aspirin maetamizol nonsteroidal anti-inflammatory (NSAID) phenacetin									
154080		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Rebbeck, T. R.  et al. 2006	16985250				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		Philadelphia	CDC GDP info	6817	Hs.567342			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		171150		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
154081		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Lilla, C.  et al. 2006	17013894				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		Germany	CDC GDP info	6817	Hs.567342			Int J Cancer    2006	SULT1A1 genotype and susceptibility to colorectal cancer		171150		CDC	2006			meat smoking (tobacco)									
154083		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Wegman, P.  et al. 2007	17244352				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			Breast Cancer Res    2007    9(1)    R7	Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal breast cancer patients		171150		CDC	2007	The metabolism of tamoxifen is complex and the mechanisms responsible for the resistance are unlikely to be explained by a single polymorphism; instead it is a combination of several mechanisms.		tamoxifen									
154084	Y	colorectal cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Chen, K.  et al. 2006	17274372				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			Zhonghua Zhong Liu Za Zhi    2006    28(9)    670-3	A case-control study on the association between the genetic polymorphism of sulfotransferase 1A1, diet and susceptibility of colorectal cancer		171150		CDC	2006	This study suggests that SULT1A1 slow sulfation combined with higher intake of red meat may be associated with an elevated risk of rectal cancer.		meat									
154085		breast cancer	CANCER	CAN	Breast Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Rebbeck, T. R.  et al. 2007	17372239				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	African American;European	Pennsylvania	CDC GDP info	6817	Hs.567342			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		171150		CDC	2007												
154086		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Holt, S. K.  et al. 2007	17372243				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Caucasian	United States	CDC GDP info	6817	Hs.567342			Cancer Epidemiol Biomarkers Prev    2007    16(3)    481-9	Ovarian cancer risk and polymorphisms involved in estrogen catabolism		171150		CDC	2007												
154088	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Fan, C.  et al. 2007	17603900	SULT1A1*2			Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		171150		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)	CYP1B1	CYP1B1 1294G	SULT1A1	SULT1A1*2					
154090	Y	urothelial cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Wang, Y. H.  et al. 2007	17619904				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			J Cancer Res Clin Oncol    2007	Human NAD(P)H		171150		CDC	2007	These findings suggest that NQO1 and SULT1A1 polymorphisms are associated with the risk of UC, particularly among those who have ever smoked.		smoking (tobacco)									
154091		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	2	2q11.1-q11.2	SULT1C2	108271526	108292803		Monzo, M.  et al. 2006	16507781				Sulfotransferase family, cytosolic, 1C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176825	French		CDC GDP info	6819	Hs.436123			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		608357		CDC	2006			chemotherapy									
154092	Y	bone density	METABOLIC	MET		4	4q13.1	SULT1E1	70741518	70760459		Lee, S. A.  et al. 2006	16969590				Sulfotransferase family 1E, estrogen-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005420.2	Korean		CDC GDP info	6783	Hs.479898			Calcif Tissue Int    2006	SULT1E1 Genetic Polymorphisms Modified the Association between Phytoestrogen Consumption and Bone Mineral Density in Healthy Korean Women		600043		CDC	2006	the genetic polymorphism of SULT1E1 *959 G > A was associated with BMD at the distal radius and calcaneus, and the association between phytoestrogen consumption and calcaneal BMD might be modified by this genetic polymorphism.		phytoestrogen									
154093		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	4	4q13.1	SULT1E1	70741518	70760459		Rebbeck, T. R.  et al. 2006	16985250				Sulfotransferase family 1E, estrogen-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005420.2		Philadelphia	CDC GDP info	6783	Hs.479898			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		600043		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
154094		breast cancer	CANCER	CAN	Breast Neoplasms	4	4q13.1	SULT1E1	70741518	70760459		Rebbeck, T. R.  et al. 2007	17372239				Sulfotransferase family 1E, estrogen-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005420.2	African American;European	Pennsylvania	CDC GDP info	6783	Hs.479898			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		600043		CDC	2007												
154096	Y	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	19	19q13.3	SULT2A1	53065681	53081405		Goodarzi, M. O.  et al. 2007	17426092				Sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003167			CDC GDP info	6822	Hs.515835			J Clin Endocrinol Metab    2007	Genes for Enzymes Regulating DHEA Sulfonation are Associated with Levels of DHEA-Sulfate in Polycystic Ovary Syndrome		125263		CDC	2007	This study presents genetic evidence suggesting a potential role of SULT2A1, but not STS, in the inherited AA excess of PCOS.											
154097		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Noso, S.  et al. 2005	16306380				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Asian		CDC GDP info	387082	Hs.269775			Diabetes    2005    54(12)    3582-6	Genetic heterogeneity in association of the SUMO4 M55V variant with susceptibility to type 1 diabetes		608829		CDC	2005	odds ratio [OR] 1.											
154098	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Costas, J.  et al. 2006	16755651				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			CDC GDP info	387082	Hs.269775			J Rheumatol    2006    33(6)    1048-51	SUMO4 and MAP3K7IP2 Single Nucleotide Polymorphisms and Susceptibility to Rheumatoid Arthritis		608829		CDC	2006	SUMO4 and MAP3K7IP2 SNP did not significantly influence predisposition to and features of RA, in contrast to previous genetic and functional evidence that suggested their involvement.											
154099	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Orozco, G.  et al. 2006	16821265				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Spanish;Japanese;Caucasian	Spain	CDC GDP info	387082	Hs.269775			J Rheumatol    2006    33(7)    1235-1238	SLC22A4, RUNX1, and SUMO4 Polymorphisms Are Not Associated with Rheumatoid Arthritis		608829		CDC	2006	These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analyzed do not confer a relevant role in susceptibility to RA in the Spanish population.											
154100		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Noso, S.  et al. 2006	17130530				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Asian	Japan	CDC GDP info	387082	Hs.269775			Ann N Y Acad Sci    2006    1079    41-6	Association of SUMO4, as a Candidate Gene for IDDM5, with Susceptibility to Type 1 Diabetes in Asian Populations		608829		CDC	2006	odds ratio [OR]: 1.											
154101		diabetes, type 1 thyroid disease, autoimmune	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	6	6q25	SUMO4	149763187	149763875		Ikegami, H.  et al. 2006	17130532				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Japanese;Caucasian;Asian	Japan	CDC GDP info	387082	Hs.269775			Ann N Y Acad Sci    2006    1079    51-59	Genetics of Type 1 Diabetes		608829		CDC	2006												
154103	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 2	6	6q25	SUMO4	149763187	149763875		Lin, H. Y.  et al. 2007	17229939	SUMO4 M55V variant			SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342			CDC GDP info	387082	Hs.269775			Diabetes    2007	SUMO4 M55V Variant Is Associated with Diabetic Nephropathy in Type 2 Diabetes		608829		CDC	2007	S-This study indicates that the SUMO4 gene M55V variant is associated with$$$ severity of diabetic nephropathy in patients with type 2 diabetes.											
154104	N	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Sedimbi, S. K.  et al. 2007	17373940	SUMO4 M55V			SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Caucasian;Indian;Asian	India	CDC GDP info	387082	Hs.269775			Int J Immunogenet    2007    34(2)    137-142	No association of SUMO4 M55V with autoimmune diabetes in Asian-Indian patients		608829		CDC	2007												
154106		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6q25	SUMO4	149763187	149763875		Ikegami, H.  et al. 2007	17452059				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Japanese;Caucasian;Korean;Asian		CDC GDP info	387082	Hs.269775			Diabetes Res Clin Pract    2007	Genetics of type 1 diabetes in Asian and Caucasian populations		608829		CDC	2007												
154107	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Sedimbi, S. K.  et al. 2007	17554341				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Swedish;Caucasian		CDC GDP info	387082	Hs.269775			Genes Immun    2007	SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients		608829		CDC	2007												
154108	N	leukemia	CANCER	CAN	Leukemia, Lymphocytic, Acute	12	12q13.2	SUOX	54677309	54685576		Steinberg, K. K.  et al. 2007	17366837				Sulfite oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647356		Nevada	CDC GDP info	6821	Hs.558403			Environ Health Perspect    2007    115(1)    158-64	Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada		606887		CDC	2007	Although genetic studies did not provide evidence that a common agent or genetic susceptibility factor caused the leukemias, the association between a SUOXgene locus and disease status in the presence of high tungsten and arsenic levels warrants further investigation.											
154110		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10p13	SUV39H2	14960871	14986310		Yoon, K. A.  et al. 2006	16774942				Suppressor of variegation 3-9 homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024670	Korean		CDC GDP info	79723	Hs.554883			Carcinogenesis    2006	Novel polymorphisms in the SUV39H2 histone methyltransferase and the risk of lung cancer		606503		CDC	2006			smoking (tobacco)									
154111	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q12.3	SYN3	31238539	31784329		Lachman, H. M.  et al. 2006	16511335			promoter	Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2	Caucasian		CDC GDP info	8224	Hs.584827			Neuropsychobiology    2006    53(2)    57-62	Analysis of Synapsin III -196 Promoter Mutation in Schizophrenia and Bipolar Disorder		602705		CDC	2006	These data, while inconclusive, suggest that -196 SNP should be further investigated as a candidate for 22q13-linked SZ.											
154112	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	22	22q12.3	SYN3	31238539	31784329		Akkad, D. A.  et al. 2006	16972123			promoter	Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2	German	Germany	CDC GDP info	8224	Hs.584827			J Neurol    2006	No association between synapsin III gene promoter polymorphisms and multiple sclerosis in German patients		602705		CDC	2006												
154113		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	22	22q12.3	SYN3	31238539	31784329		Hall, H.  et al. 2007	17366345				Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2			CDC GDP info	8224	Hs.584827			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		602705		CDC	2007												
154115	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	X	Xp11.23-p11.22	SYP	48931208	48943605		Brookes, K. et al  et al. 2006	16894395				Synaptophysin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003179.2			CDC GDP info	6855	Hs.632804			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		313475		CDC	2006												
154116	Y	bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	6	6q23.2	TAAR6	132933153	132934191		Pae, C. U.  et al. 2006	17097106				schizophrenia disorder 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175067.1	Korean		CDC GDP info	319100	Hs.434196			J Psychiatr Res    2006	Association of the trace amine associated receptor 6 (TAAR6) gene with schizophrenia and bipolar disorder in a Korean case control sample		608923		CDC	2006												
154117	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q23.2	TAAR6	132933153	132934191		Vladimirov, V.  et al. 2007	17505468				schizophrenia disorder 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175067.1	European;Irish		CDC GDP info	319100	Hs.434196			Mol Psychiatry    2007	A region of 35 kb containing the trace amine associate receptor 6 (TAAR6) gene is associated with schizophrenia in the Irish study of high-density schizophrenia families		608923		CDC	2007												
154119	N	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	7	7q21-q22	TAC1	97199310	97207720		Garcia-Barcelo, M.  et al. 2007	17448763				Tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013996.1			CDC GDP info	6863	Hs.2563			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		162320		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
154121	N	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	12	12q13-q21	TAC3	55690050	55696592		Garcia-Barcelo, M.  et al. 2007	17448763				Tachykinin 3 (neuromedin K, neurokinin beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF537113			CDC GDP info	6866	Hs.9730			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		162330		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
154122		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	17	17q21.33	TAC4	45270669	45280378		Cunningham, S.  et al. 2006	17175032				Tachykinin 4 (hemokinin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF515828	Irish;Sardinian		CDC GDP info	255061	Hs.652130			J Neuroimmunol    2006	The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis				CDC	2006												
154123	N	chronic cough	OTHER	OTH	Cough|Chronic Disease	2	2p13.1	TACR1	75129737	75279781		Park, H. K.  et al. 2006	16893949				Tachykinin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001058			CDC GDP info	6869	Hs.654419			Thorax    2006	Association of Genetic Variations of Neurokinin-2 Receptor with Enhanced Cough Sensitivity to Capsaicin in Chronic Cough		162323		CDC	2006	The results of this study suggest that NK-2R gene polymorphisms are involved in the enhanced cough sensitivity to capsaicin of patients with chronic cough.											
154125	Y	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	2	2p13.1	TACR1	75129737	75279781		Garcia-Barcelo, M.  et al. 2007	17448763	rs3771863			Tachykinin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001058			CDC GDP info	6869	Hs.654419			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation	rs3771863	162323		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
154126	Y	chronic cough	OTHER	OTH	Cough|Chronic Disease	10	10q11-q21	TACR2	70834587	70846085		Park, H. K.  et al. 2006	16893949				Tachykinin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC033742			CDC GDP info	6865	Hs.88372			Thorax    2006	Association of Genetic Variations of Neurokinin-2 Receptor with Enhanced Cough Sensitivity to Capsaicin in Chronic Cough		162321		CDC	2006	The results of this study suggest that NK-2R gene polymorphisms are involved in the enhanced cough sensitivity to capsaicin of patients with chronic cough.											
154127	N	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	10	10q11-q21	TACR2	70834587	70846085		Garcia-Barcelo, M.  et al. 2007	17448763				Tachykinin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC033742			CDC GDP info	6865	Hs.88372			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		162321		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
154128	Y	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	4	4q25	TACR3	104730073	104860422		Garcia-Barcelo, M.  et al. 2007	17448763				Tachykinin receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M89473			CDC GDP info	6870	Hs.942			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation				CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
154129		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	X	Xq13.1	TAF1	70502838	70666979		Martini, C. H.  et al. 2006	16803573				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDP info	6872	Hs.158560			Br J Haematol    2006    134(1)    92-4	The effect of genetic variants in the thrombin activatable fibrinolysis inhibitor (TAFI) gene on TAFI-antigen levels, clot lysis time and the risk of venous thrombosis		313650		CDC	2006												
154132		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Gomez, L. M.  et al. 2006	16634865				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Tissue Antigens    2006    67(4)    290-6	Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis		170260		CDC	2006												
154133	N	bronchopulmonary dysplasia	UNKNOWN	UNK	Bronchopulmonary Dysplasia	6	6p21.3	TAP1	32920963	32929726		Lin, H. C.  et al. 2005	16640035				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Acta Paediatr Taiwan    2005    46(6)    341-5	No association between TAP1 DpnII polymorphism and bronchopulmonary dysplasia		170260		CDC	2005	TAP1 polymorphism is not a useful marker for predicting the susceptibility or severity to BPD for Taiwanese.											
154134	N	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	6	6p21.3	TAP1	32920963	32929726		Yilmaz, I.  et al. 2006	16923719				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Acta Otolaryngol    2006    126(10)    1110-1	No difference in polymorphism frequency in a Turkish population with allergic rhinitis		170260		CDC	2006												
154135		bronchiectasis	OTHER	OTH	Bronchiectasis	6	6p21.3	TAP1	32920963	32929726		Dogru, D.  et al. 2007	17245734				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Pediatr Pulmonol    2007	The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children		170260		CDC	2007												
154136		diabetes, type 1	IMMUNE	IMM		6	6p21.3	TAP1	32920963	32929726		Sia, C.  et al. 2005	17491658				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Rev Diabet Stud    2005    2(1)    40-52	Genetic susceptibility to type 1 diabetes in the intracellular pathway of antigen processing - a subject review and cross-study comparison		170260		CDC	2005												
154137		nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	6	6p21.3	TAP1	32920963	32929726		Hassen, E.  et al. 2007	17498556				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5		Tunisia	CDC GDP info	6890	Hs.352018			Cancer Genet Cytogenet    2007    175(1)    41-6	TAP1 gene polymorphisms and nasopharyngeal carcinoma risk in a Tunisian population		170260		CDC	2007												
154138		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Xu, C.  et al. 2007	17525827				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			J Clin Immunol    2007	Genetic Polymorphisms of LMP/TAP Gene and Hepatitis B Virus Infection Risk in the Chinese Population		170260		CDC	2007												
154139	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TAP1	32920963	32929726		Kramer, U.  et al. 2007	17581627				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5	Caucasian;German		CDC GDP info	6890	Hs.352018			Genes Immun    2007	Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype		170260		CDC	2007												
154140		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Bullido, M. J.  et al. 2006	16595160				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Neurobiol Aging    2006	A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers		170261		CDC	2006												
154141		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Gomez, L. M.  et al. 2006	16634865				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Tissue Antigens    2006    67(4)    290-6	Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis		170261		CDC	2006												
154142	Y	pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Slomov, E.  et al. 2005	16690408				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Israeli;Jewish		CDC GDP info	6891	Hs.502			Hum Immunol    2005    66(12)    1213-22	Pemphigus Vulgaris Is Associated with the Transporter Associated with Antigen Processing (TAP) System		170261		CDC	2005												
154143	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Chen, R. H.  et al. 2006	16721835				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			J Clin Lab Anal    2006    20(3)    93-7	Association between the TAP2 gene codon 665 polymorphism and Graves' Disease		170261		CDC	2006												
154144		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Hwang, Y.  et al. 2006	16886895				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		170261		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
154145	N	allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal	6	6p21.3	TAP2	32897587	32914525		Yilmaz, I.  et al. 2006	16923719				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Acta Otolaryngol    2006    126(10)    1110-1	No difference in polymorphism frequency in a Turkish population with allergic rhinitis		170261		CDC	2006												
154146		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TAP2	32897587	32914525		Qu, H. Q.  et al. 2007	17192492				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Canadian		CDC GDP info	6891	Hs.502			Diabetes    2007    56(1)    270-275	Genetic Control of Alternative Splicing in the TAP2 Gene		170261		CDC	2007												
154147		bronchiectasis	OTHER	OTH	Bronchiectasis	6	6p21.3	TAP2	32897587	32914525		Dogru, D.  et al. 2007	17245734				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Pediatr Pulmonol    2007	The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children		170261		CDC	2007												
154148		diabetes, type 1	IMMUNE	IMM		6	6p21.3	TAP2	32897587	32914525		Sia, C.  et al. 2005	17491658				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			Rev Diabet Stud    2005    2(1)    40-52	Genetic susceptibility to type 1 diabetes in the intracellular pathway of antigen processing - a subject review and cross-study comparison		170261		CDC	2005												
154149		hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Xu, C.  et al. 2007	17525827				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3			CDC GDP info	6891	Hs.502			J Clin Immunol    2007	Genetic Polymorphisms of LMP/TAP Gene and Hepatitis B Virus Infection Risk in the Chinese Population		170261		CDC	2007												
154150	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TAP2	32897587	32914525		Kramer, U.  et al. 2007	17581627				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Caucasian;German		CDC GDP info	6891	Hs.502			Genes Immun    2007	Strong associations of psoriasis with antigen processing LMP and transport genes TAP differ by gender and phenotype		170261		CDC	2007												
154151		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TAPBP	33375449	33389967		van der Slik, A. R.  et al. 2007	17389020				TAP binding protein (tapasin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003190.3			CDC GDP info	6892	Hs.370937			Tissue Antigens    2007    69(4)    348-53	Sequence variation within the major histocompatibility complex subregion centromeric of HLA class II in type 1 diabetes		601962		CDC	2007												
154152	N	dementia, frontotemporal	PSYCH	PSY		1		TARDBP	10995265	11008136		Schumacher, A.  et al. 2007	17614162				TAR DNA binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007375.3	German		CDC GDP info	23435	Hs.300624			Neurobiol Aging    2007	No association of TDP-43 with sporadic frontotemporal dementia		605078		CDC	2007												
154153	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	7	7q31.1-q31.3|7q31	TAS2R16	122421994	122422990		Wang, J. C.  et al. 2007	17250611				Taste receptor, type 2, member 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016945			CDC GDP info	50833	Hs.272395			Alcohol Clin Exp Res    2007    31(2)    209-15	Functional Variants in TAS2R38 and TAS2R16 Influence Alcohol Consumption in High-Risk Families of African-American Origin		604867		CDC	2007	Functional variants in both TAS2R16 and TAS2R38 correlate with alcohol consumption in African-American families.											
154155		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q27	TBP	170705395	170723872		Lim, S. W.  et al. 2006	16687213				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3			CDC GDP info	6908	Hs.590872			Neurosci Lett    2006	Genetic analysis of SCA2, 3 and 17 in idiopathic Parkinson's disease		600075		CDC	2006												
154156		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	6	6q27	TBP	170705395	170723872		Metzger, S.  et al. 2006	16847693				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3	European		CDC GDP info	6908	Hs.590872			Hum Genet    2006	Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease		600075		CDC	2006												
154157		Huntington disease-like	NEUROLOGICAL	NEUR	Huntington Disease	6	6q27	TBP	170705395	170723872		Costa, M. D.  et al. 2006	16858508				TATA box binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003194.3	Portuguese		CDC GDP info	6908	Hs.590872			J Hum Genet    2006	Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype		600075		CDC	2006												
154158	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	22	22q11.21	TBX1	18124225	18151112		Han, X. M.  et al. 2006	16854283				T-box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080646.1			CDC GDP info	6899	Hs.173984			Zhonghua Yi Xue Za Zhi    2006    86(22)    1553-7	Single nucleotide polymorphism and haplotype in TBX1 gene of patients with contruncal defects		602054		CDC	2006	The SNP site G2963A located in the coding-region of TBX1 gene is associated with CTD. The persons with G2963 have higher risk of CTD than those with A2963. The haplotypes constructed with these 3 SNP sites may be linked with the susceptibility gene of CTD.											
154159		heart anomalies, congenital	CARDIOVASCULAR	CARD	Tetralogy of Fallot	22	22q11.21	TBX1	18124225	18151112		Cabuk, F.  et al. 2007	17479646				T-box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080646.1			CDC GDP info	6899	Hs.173984			Turk J Pediatr    2007    49(1)    61-8	TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy		602054		CDC	2007												
154161	Y	hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	17	17q21.32	TBX21	43165608	43178484		Cao, B.  et al. 2007	17378728	allele -1499 and haplotype D (--/AC) within the TBX21 promoter region		promoter	T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			CDC GDP info	30009	Hs.272409			Clin Chem Lab Med    2007    45(3)    333-8	Association analysis of hepatitis virus B infection with haplotypes of the TBX21 gene promoter region in the Chinese population		604895		CDC	2007	Based on our findings, it seems that genetic variations of allele -1499 and haplotype D (--/AC) within the TBX21 promoter region contribute to susceptibility to HBV infection in the Chinese population.											
154162		Holt-Oram syndrome	DEVELOPMENTAL	DEV	Upper Extremity Deformities, Congenital|Heart Defects, Congenital|Abnormalities, Multiple|Syndrome	12	12q24.1	TBX5	113276117	113330630		Debeer, P.  et al. 2007	17534187				T-box 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000192.3			CDC GDP info	6910	Hs.381715			Clin Orthop Relat Res    2007	Novel TBX5 Mutations in Patients with Holt-Oram Syndrome		601620		CDC	2007												
154163		cerebral infarct, atherosclerotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Genetic Predisposition to Disease	19	19p13.3	TBXA2R	3545503	3557658		Kaneko, Y.  et al. 2006	17249521				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1			CDC GDP info	6915	Hs.442530			Hypertens Res    2006    29(9)    665-71	Relationship between the thromboxane A2 receptor gene and susceptibility to cerebral infarction		188070		CDC	2006												
154164	Y	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	19	19p13.3	TBXA2R	3545503	3557658		Kim, S. H.  et al. 2007	17496729				Thromboxane A2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_201636.1			CDC GDP info	6915	Hs.442530			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		188070		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
154166	Y	cervical cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Uterine Cervical Neoplasms	X	Xq22.1	TCEAL1	102770303	102772532			16542834				Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2			CDC GDP info	9338	Hs.95243			Eur J Cancer    2006	Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer		300237		CDC	2006												
154167	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	X	Xq22.1	TCEAL1	102770303	102772532		Lee, Y. L.  et al. 2006	16697770				Transcription elongation factor A (SII)-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004780.2		Taiwan	CDC GDP info	9338	Hs.95243			J Lab Clin Med    2006    147(5)    228-33	Polymorphisms of p53 and p21 genes in chronic obstructive pulmonary disease		300237		CDC	2006	The polymorphisms of p53 and p21 were significantly associated with the occurrence of smoking-related COPD in Taiwan Chinese patients.											
154168		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Kagami-Takasugi, M.  et al. 2006	16562587				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			J Pediatr Endocrinol Metab    2006    19(2)    143-8	Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus		142410		CDC	2006												
154170	Y	diabetes, gestational	METABOLIC	MET		12	12q22-qter	TCF1	119900931	119924697		Shaat, N.  et al. 2006	16639597				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Scandinavian		CDC GDP info	6927	Hs.567343			Diabetologia    2006	Common variants in MODY genes increase the risk of gestational diabetes mellitus		142410		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
154172		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Yokoi, N.  et al. 2006	16873704				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Japanese;European		CDC GDP info	6927	Hs.567343			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		142410		CDC	2006												
154173	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Body Weight|Overweight	12	12q22-qter	TCF1	119900931	119924697		Holmkvist, J.  et al. 2006	17033837				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			Diabetologia    2006	Common variants in HNF-1 alpha and risk of type 2 diabetes		142410		CDC	2006	 This study provides in vitro and in vivo evidence that common variants in the MODY3 gene, HNF-1alpha, influence transcriptional activity and insulin secretion in vivo. These variants are associated with a modestly increased risk of late-onset type 2 diabetes in subsets of elderly overweight individuals.											
154174		diabetes, type 1	IMMUNE	IMM	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Hyperglycemia	12	12q22-qter	TCF1	119900931	119924697		Kawasaki, E.  et al. 2006	17130528				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		Japan	CDC GDP info	6927	Hs.567343			Ann N Y Acad Sci    2006    1079    24-30	Genetics of fulminant type 1 diabetes		142410		CDC	2006												
154175	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Willer, C. J.  et al. 2007	17192490				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		142410		CDC	2007												
154176		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Winckler, W.  et al. 2007	17327436				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			Diabetes    2007    56(3)    685-93	Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes		142410		CDC	2007	although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes.											
154177	N	diabetes, type 2	METABOLIC	MET		12	12q22-qter	TCF1	119900931	119924697		Yang, Z.  et al. 2007	17407072				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    157-61	The genetic and clinical characteristics of transcription factor 1 gene mutations in Chinese diabetes.		142410		CDC	2007	TCF1 gene is not a common cause of early-onset and/or multiplex diabetes among Chinese patients.											
154179		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Wang, C. R.  et al. 2007	17458140				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3		China	CDC GDP info	6927	Hs.567343			Biomed Environ Sci    2007    20(1)    41-6	Association of a common haplotype of hepatocyte nuclear factor 1alpha with type 2 diabetes in Chinese population		142410		CDC	2007	The results of this study provide evidence that the haplotype of HNF-1alpha decreases the risk of type 2 diabetes in Chinese individuals.											
154181		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Kagami-Takasugi, M.  et al. 2006	16562587				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1			CDC GDP info	6928	Hs.191144			J Pediatr Endocrinol Metab    2006    19(2)    143-8	Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus		189907		CDC	2006												
154182		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17cen-q21.3	TCF2	33120546	33179182		Yokoi, N.  et al. 2006	16873704				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Japanese;European		CDC GDP info	6928	Hs.191144			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		189907		CDC	2006												
154183		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17cen-q21.3	TCF2	33120546	33179182		Winckler, W.  et al. 2007	17327436				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1			CDC GDP info	6928	Hs.191144			Diabetes    2007    56(3)    685-93	Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes		189907		CDC	2007	although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes.											
154185		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Groves, C. J.  et al. 2006	16936215				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			Diabetes    2006    55(9)    2640-4	Association Analysis of 6,736 U.K. Subjects Provides Replication and Confirms TCF7L2 as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk		602228		CDC	2006			family history									
154186	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Scott, L. J.  et al. 2006	16936217				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Danish;Finnish;Icelandic		CDC GDP info	6934	Hs.588935			Diabetes    2006    55(9)    2649-53	Association of Transcription Factor 7-Like 2 (TCF7L2) Variants With Type 2 Diabetes in a Finnish Sample		602228		CDC	2006												
154187	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	10	10q25.3	TCF7L2	114700200	114916060		Damcott, C. M.  et al. 2006	16936218				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Danish;European;Icelandic		CDC GDP info	6934	Hs.588935			Diabetes    2006    55(9)    2654-9	Polymorphisms in the Transcription Factor 7-Like 2 (TCF7L2) Gene Are Associated With Type 2 Diabetes in the Amish		602228		CDC	2006												
154188		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Weedon, M. N.  et al. 2006	17020404				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1		Great Britain	CDC GDP info	6934	Hs.588935			PLoS Med    2006    3(10)	Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction		602228		CDC	2006	Combining information from several known common risk polymorphisms allows the identification of population subgroups with markedly differing risks of developing type 2 diabetes compared to those obtained using single polymorphisms.											
154190		diabetes, type 2	METABOLIC	MET		10	10q25.3	TCF7L2	114700200	114916060		Humphries, S. E.  et al. 2006	17043802				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	European;Indian		CDC GDP info	6934	Hs.588935			J Mol Med    2006	Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women		602228		CDC	2006												
154192	Y	body mass insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Munoz, J.  et al. 2006	17130514				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	African American;CaucEuropean		CDC GDP info	6934	Hs.588935			Diabetes    2006    55(12)    3630-4	Polymorphism in the Transcription Factor 7-Like 2 (TCF7L2) Gene Is Associated With Reduced Insulin Secretion in Nondiabetic Women		602228		CDC	2006												
154193	Y	body mass cholesterol, HDL diabetes, type 2 glucose insulin metabolic syndrome triglycerides	METABOLIC	MET	Diabetes Mellitus	10	10q25.3	TCF7L2	114700200	114916060		Melzer, D.  et al. 2006	17181866				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			BMC Med    2006    4(1)    34	Effects of the diabetes linked TCF7L2 polymorphism in a representative older population		602228		CDC	2006	The TCF7L2 rs7903146 polymorphism is associated with lower insulin levels, smaller waist circumference, and lower risk lipid profiles in the general elderly population.											
154194	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Mayans, S.  et al. 2007	17245407				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Danish;Icelandic		CDC GDP info	6934	Hs.588935			Eur J Hum Genet    2007	TCF7L2 polymorphisms are associated with type 2 diabetes in northern Sweden		602228		CDC	2007												
154196	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Lehman, D. M.  et al. 2007	17259383				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Caucasian;Mexican;Mexican American		CDC GDP info	6934	Hs.588935			Diabetes    2007    56(2)    389-93	Haplotypes of Transcription Factor 7-Like 2 (TCF7L2) Gene and Its Upstream Region Are Associated With Type 2 Diabetes and Age of Onset in Mexican Americans		602228		CDC	2007												
154197		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Sladek, R.  et al. 2007	17293876				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	French		CDC GDP info	6934	Hs.588935			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		602228		CDC	2007												
154198	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Hayashi, T.  et al. 2007	17340123				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			Diabetologia    2007	Replication study for the association of TCF7L2 with susceptibility to type 2 diabetes in a Japanese population		602228		CDC	2007	 These results indicate that TCF7L2 might be a strong candidate for conferring susceptibility to type 2 diabetes across different ethnicities.											
154199	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	10	10q25.3	TCF7L2	114700200	114916060		Shaat, N.  et al. 2007	17342473				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Scandinavian		CDC GDP info	6934	Hs.588935			Diabetologia    2007	A variant in the transcription factor 7-like 2 (TCF7L2) gene is associated with an increased risk of gestational diabetes mellitus		602228		CDC	2007	 The TCF7L2 rs7903146 variant is associated with an increased risk of gestational diabetes mellitus in Scandinavian women.											
154200		insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Loos, R. J.  et al. 2007	17416797				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			Diabetes    2007	TCF7L2 polymorphisms modulate proinsulin levels and {beta}-cell function in a British Europid population		602228		CDC	2007												
154202		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Scott, L. J. et al.  et al. 2007	17463248				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Finnish		CDC GDP info	6934	Hs.588935			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		602228		CDC	2007												
154203	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Parra, E.  et al. 2007	17470138				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Spanish;European;Mexican;Native American;Asian	Nigeria||Spain	CDC GDP info	6934	Hs.588935			Clin Genet    2007    71(4)    359-66	Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City		602228		CDC	2007												
154204	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Cauchi, S.  et al. 2007	17476472				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Moroccan		CDC GDP info	6934	Hs.588935			J Mol Med    2007	TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups		602228		CDC	2007												
154205	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Chang, Y. C.  et al. 2007	17579206				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Chinese;European		CDC GDP info	6934	Hs.588935			Diabetes    2007	Association Study of the Genetic Polymorphisms of the Transcription Factor7- like 2 (TCF7L2) Gene and Type 2 Diabetes in the Chinese Population		602228		CDC	2007	The previously reported SNPs rs7903146 T and rs12255372 T alleles of the TCF7L2 gene were rare and were not associated with type 2 diabetes in a Chinese population, which may attribute to the low frequencies of these two SNPs.											
154208	P	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	10	10q25.3	TCF7L2	114700200	114916060		Ng, M. C.  et al. 2007	17609304				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Chinese;Danish;European;Icelandic;Asian		CDC GDP info	6934	Hs.588935			J Clin Endocrinol Metab    2007	Replication and Identification of Novel Variants at TCF7L2 Associated with Type 2 Diabetes in Hong Kong Chinese		602228		CDC	2007	Two of the previously reported risk alleles at rs11196205 (C) and rs7903146 (T) were rare in Chinese (0.											
154209		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	11	11q11-q12	TCN1	59376859	59390594		Martinelli, M.  et al. 2006	16470748				Transcobalamin I (vitamin B12 binding protein, R binder family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001062.2			CDC GDP info	6947	Hs.2012			Hum Mutat    2006    27(3)    294	Study of four genes belonging to the folate pathway		189905		CDC	2006	obtained with additional TCN2 polymorphisms suggest that c.											
154210		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	22	22q12.2	TCN2	29333160	29353047		Martinelli, M.  et al. 2006	16470748				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDP info	6948	Hs.417948			Hum Mutat    2006    27(3)    294	Study of four genes belonging to the folate pathway		275350		CDC	2006	obtained with additional TCN2 polymorphisms suggest that c.											
154211		folate homocysteine vitamin B12	METABOLIC	MET	Hyperhomocysteinemia	22	22q12.2	TCN2	29333160	29353047		Alessio, A. C.  et al. 2006	16820193				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Brazilian		CDC GDP info	6948	Hs.417948			Thromb Res    2006	Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B(12) concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children		275350		CDC	2006												
154212	N	cerebrovascular disease, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Ischemia	22	22q12.2	TCN2	29333160	29353047		Bosco, P.  et al. 2006	16894458				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Italian		CDC GDP info	6948	Hs.417948			Thromb Haemost    2006    96(2)    154-9	Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily		275350		CDC	2006												
154214	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	22	22q12.2	TCN2	29333160	29353047		Boyles, A. L.  et al. 2006	17035141				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Caucasian		CDC GDP info	6948	Hs.417948			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		275350		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
154215	N	brain cancer	CANCER	CAN	Glioblastoma|Genetic Predisposition to Disease	22	22q12.2	TCN2	29333160	29353047		Semmler, A.  et al. 2006	17119065				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2	Caucasian		CDC GDP info	6948	Hs.417948			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2314-2316	The Methionine Synthase Polymorphism c.2756A>G Alters Susceptibility to Glioblastoma Multiforme		275350		CDC	2006												
154217		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	22	22q12.2	TCN2	29333160	29353047		Fredriksen, A.  et al. 2007	17436311				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDP info	6948	Hs.417948			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		275350		CDC	2007												
154218		colorectal cancer	CANCER	CAN	Colonic Neoplasms	22	22q12.2	TCN2	29333160	29353047		Curtin, K.  et al. 2007	17449906				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDP info	6948	Hs.417948			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		275350		CDC	2007			alcohol folate methionine Vitamin B12									
154219		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q25.3-q26	TCP1	160119519	160130725		Tang, W.  et al. 2006	16465465				T-complex 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030752		China	CDC GDP info	6950	Hs.363137			J Neural Transm    2006	Family-based association studies of the TCP1 gene and schizophrenia in the Chinese Han population		186980		CDC	2006												
154221	Y	anemia, aplastic	HEMATOLOGICAL	HEM	Anemia, Aplastic	8	8q13	TERF1	74083662	74122281		Savage, S. A.  et al. 2006	16647572				Telomeric repeat binding factor (NIMA-interacting) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128828			CDC GDP info	7013	Hs.442707			Exp Hematol    2006    34(5)    664-71	Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia		600951		CDC	2006	It is possible that a common genetic variant in TERF1 is associated with risk for AA but additional studies are required.											
154222	Y	anemia, aplastic	HEMATOLOGICAL	HEM	Anemia, Aplastic	16	16q22.1	TERF2	67947033	67977374		Savage, S. A.  et al. 2006	16647572				Telomeric repeat binding factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005652			CDC GDP info	7014	Hs.63335			Exp Hematol    2006    34(5)    664-71	Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia		602027		CDC	2006	It is possible that a common genetic variant in TERF1 is associated with risk for AA but additional studies are required.											
154223		aplastic anemia, acquired	HEMATOLOGICAL	HEM	Virus Diseases|Hepatitis|Anemia, Aplastic|Genetic Predisposition to Disease	5	5p15.33	TERT	1306286	1348162		Liang, J.  et al. 2006	16627250				Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2	Asian	Japan	CDC GDP info	7015	Hs.492203			Haematologica    2006    91(5)    656-8	Mutations in telomerase catalytic protein in Japanese children with aplastic anemia		187270		CDC	2006												
154224		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	5	5p15.33	TERT	1306286	1348162		Matsubara, Y.  et al. 2006	16890917				Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2			CDC GDP info	7015	Hs.492203			Biochem Biophys Res Commun    2006    348(2)    669-72	Coronary artery disease and a functional polymorphism of hTERT		187270		CDC	2006												
154225		brain cancer	CANCER	CAN	Glioma|Brain Neoplasms|Genetic Predisposition to Disease	5	5p15.33	TERT	1306286	1348162		Carpentier, C.  et al. 2007	17410334				Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2			CDC GDP info	7015	Hs.492203			J Neurooncol    2007	Association of telomerase gene hTERT polymorphism and malignant gliomas		187270		CDC	2007	We found here the short allele of MNS16A more frequent in glioma patients, but it did not seem to be predictive of survival.											
154226	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genomic Instability	5	5p15.33	TERT	1306286	1348162		Nordfjall, K.  et al. 2007	17481586	TERT (-1327)T/C			Telomerase reverse transcriptase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198253.2			CDC GDP info	7015	Hs.492203			Biochem Biophys Res Commun    2007	hTERT (-1327)T/C polymorphism is not associated with age-related telomere attrition in peripheral blood		187270		CDC	2007												
154227	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7		TES	115637816	115686073		Liu, X.  et al. 2007	17296370				Testis derived transcript (3 LIM domains)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015641.2			CDC GDP info	26136	Hs.592286			J Urol    2007    177(3)    894-8	Association of testis derived transcript gene variants and prostate cancer risk		606085		CDC	2007	Our findings suggest that the variants in TES, or in a nearby gene, may be associated with prostate cancer in black men.											
154228	Y	cardiac death myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Disease Progression|Recurrence	3	3q22.1	TF	134901900	134980325		Campo, G.  et al. 2006	17008590				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			Arterioscler Thromb Vasc Biol    2006	Tissue Factor and Coagulation Factor VII Levels During Acute Myocardial Infarction. Association With Genotype and Adverse Events		190000		CDC	2006	Admission FVII and TF antigen levels, partially predicted by polymorphisms, are independent predictors of mortality and reinfarction in patients with acute MI.											
154230		iron levels transferrin saturation	NEUROLOGICAL	NEUR	Alzheimer Disease|Hemochromatosis|Iron Overload	3	3q22.1	TF	134901900	134980325		Lehmann, D. J.  et al. 2006	17047092				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			J Med Genet    2006    43(10)    e52	Iron genes, iron load and risk of Alzheimer's disease		190000		CDC	2006	These combinations may raise the risk for Alzheimer\s disease, owing to higher iron loads and therefore oxidative stress in the preclinical phase. If replicated, these findings will have implications for the prevention of Alzheimer\s disease.											
154231		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Corder, E. H.  et al. 2006	17116317				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			Mech Ageing Dev    2006	Susceptibility groups for Alzheimer's disease (OPTIMA cohort)		190000		CDC	2006												
154232		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Bertram, L.  et al. 2007	17192785				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		190000		CDC	2007	odds ratios (ranging from 1.											
154234		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	3	3q22.1	TF	134901900	134980325		Maeno, N.  et al. 2007	17496814				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2		Japan	CDC GDP info	7018	Hs.518267			Neuroreport    2007    18(5)    517-20	Association study between the transferrin gene and schizophrenia in the Japanese population		190000		CDC	2007												
154235		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q21	TFAM	59815181	59825903		Bertram, L.  et al. 2007	17192785				Transcription factor A, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003201.1			CDC GDP info	7019	Hs.576688			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		600438		CDC	2007	odds ratios (ranging from 1.											
154236		endurance performance	NORMALVARIATION	NV		10	10q21	TFAM	59815181	59825903		He, Z.  et al. 2007	17497594				Transcription factor A, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003201.1			CDC GDP info	7019	Hs.576688			Int J Sports Med    2007	Relationship between TFAM Gene Polymorphisms and Endurance Capacity in Response to Training		600438		CDC	2007												
154237	Y	Alzheimer's disease Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Alzheimer Disease	10	10q21	TFAM	59815181	59825903		Belin, A. C.  et al. 2007	17537576				Transcription factor A, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003201.1	Swedish;Caucasian; 		CDC GDP info	7019	Hs.576688			Neurosci Lett    2007	Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease		600438		CDC	2007												
154239	Y	personality traits	PSYCH	PSY		6	6p21-p12	TFAP2B	50894397	50923285		Nilsson, K. W.  et al. 2006	17123722				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			CDC GDP info	7021	Hs.33102			Neurosci Lett    2006	Genes encoding for AP-2beta and the Serotonin Transporter are associated with the Personality Character Spiritual Acceptance		601601		CDC	2006												
154241	Y	Alzheimer's disease depressive disorder, major	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder, Major	12	12q13	TFCP2	49774874	49853184		Schahab, S.  et al. 2006	16710089				Transcription factor CP2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005653.3			CDC GDP info	7024	Hs.48849			Dement Geriatr Cogn Disord    2006    22(1)    95-98	Association of Polymorphism in the Transcription Factor LBP-1c/CP2/LSF Gene with Alzheimer's Disease and Major Depression		189889		CDC	2006												
154242		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Atherosclerosis|Genetic Predisposition to Disease	2	2q31-q32.1	TFPI	188037202	188127464		Siegling, S.  et al. 2006	16247609			promoter	Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDP info	7035	Hs.516578			Ann Hematol    2006    85(1)    32-7	Analysis of sequence variations in the promoter region of the human tissue factor pathway inhibitor 2 gene in apoplectic patients and blood donors		152310		CDC	2006	our present study shows that the transcription of TFPI-2 is changed by single nucleotide polymorphisms and that the sequence variations in transcription factor binding sites of the TFPI-2 promoter may influence the regulation of this gene.											
154243		thromboembolism, venous, pregnancy-related	CARDIOVASCULAR	CARD	Pregnancy Complications, Hematologic|Venous Thrombosis	2	2q31-q32.1	TFPI	188037202	188127464		Hiltunen, L.  et al. 2007	16765424				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4			CDC GDP info	7035	Hs.516578			Thromb Res    2007    119(4)    423-32	An unfavorable combination of Factor V Leiden with age, weight, and blood group causes high risk of pregnancy-associated venous thrombosis		152310		CDC	2007	FVL appeared as a strong risk factor for pregnancy-associated venous thrombosis. Especially in elderly overweight mothers, FVL may cause a substantial thrombosis risk. Further studies are needed to confirm the increased prevalence of FVL in elderly mothers with normal pregnancies.											
154244			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	2	2q31-q32.1	TFPI	188037202	188127464		Hoppe, B.  et al. 2006	17003923				Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006287.4	German		CDC GDP info	7035	Hs.516578			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		152310		CDC	2006												
154246		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q22	TFPI2	93353680	93358001		Rollin, J.  et al. 2007	17208328			promoter	Tissue factor pathway inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK129833			CDC GDP info	7980	Hs.438231			Lung Cancer    2007	Influence of MMP-2 and MMP-9 promoter polymorphisms on gene expression and clinical outcome of non-small cell lung cancer		600033		CDC	2007												
154247		iron overload	METABOLIC	MET	Hemochromatosis|Iron Metabolism Disorders|Iron Overload	7	7q22	TFR2	100055974	100078338		de Diego, C.  et al. 2006	17042772				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2			CDC GDP info	7036	Hs.544932			Eur J Haematol    2006	H63D homozygotes with hyperferritinaemia		604720		CDC	2006	The lack of additional mutations in our H63D homozygotes suggests that this genotype could be the primary cause of iron overload in these patients.											
154248		porphyria cutanea tarda	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda	7	7q22	TFR2	100055974	100078338		Frank, J.  et al. 2007	17298224				Transferrin receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003227.2	German	Germany	CDC GDP info	7036	Hs.544932			Physiol Res    2007    55 Suppl 2    S75-83	Hemochromatosis gene sequence deviations in german patients with porphyria cutanea tarda		604720		CDC	2007												
154249		Graves' disease	IMMUNE	IMM	Graves Disease	8	8q24.2-q24.3	TG	133948386	134216325		Hodge, S. E.  et al. 2006	16646680				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4	Caucasian		CDC GDP info	7038	Hs.584811			Thyroid    2006    16(4)    351-5	Possible Interaction Between HLA-DRbeta1 and Thyroglobulin Variants in Graves' Disease		188450		CDC	2006												
154250		Graves' disease	IMMUNE	IMM	Graves Disease|Recurrence	8	8q24.2-q24.3	TG	133948386	134216325		Tanrikulu, S.  et al. 2006	17526951				Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4	Turkish		CDC GDP info	7038	Hs.584811			Endocrine    2006    30(3)    377-382	The Predictive Value of CTLA-4 and Tg Polymorphisms in the Recurrence of Graves' Disease after Antithyroid Withdrawal		188450		CDC	2006	early interpretation for definitive treatment procedures (i.											
154251	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Recurrence	8	8q24.2-q24.3	TG	133948386	134216325		Hsiao, J. Y.  et al. 2007	17550957	TG  C/C genotype of E33SNP			Thyroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003235.4			CDC GDP info	7038	Hs.584811			J Clin Endocrinol Metab    2007	Association between A C/T Polymorphism in Exon 33 of the Thyroglobulin Gene Is Associated with Relapse of Graves' Hyperthyroidism after Antithyroid Withdrawal in Taiwanese		188450		CDC	2007	This study showed that Taiwanese patients with the C/C genotype of E33SNP, smoking, ophthalmopathy and positive TSH-receptor antibodies at the end of the treatment were more likely to have a relapse of Graves(\) hyperthyroidism after antithyroid medication is withdrawn.											
154252	N	cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		2	2p13	TGFA	70527924	70634438		Zhu, J. H.  et al. 2006	16792897				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDP info	7039	Hs.170009			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(3)    245-8	Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate.		190170		CDC	2006	Our findings did not suggest an association between offspring TGFalpha TaqI variant and the increased risk of nsCL/P in Chinese population.											
154254	Y	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	2	2p13	TGFA	70527924	70634438		Morkuniene, A.  et al. 2007	17272867				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDP info	7039	Hs.170009			J Appl Genet    2007    48(1)    87-9	Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania		190170		CDC	2007												
154255		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV		2	2p13	TGFA	70527924	70634438		Zhu, J. H.  et al. 2006	17313741				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDP info	7039	Hs.170009			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(6)    409-14	Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate.		190170		CDC	2006	The parental smoking may interact with TGFalpha variants of Chinese populations in occurrence of nsCL/P, but it remains to have more investigations.											
154257			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Hamajima, N.  et al. 2002	12164325				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		190180		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
154258	N	aging	AGING	AGE		19	19q13.2	TGFB1	46528490	46551656			16424284			promoter	Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		190180		CDC	2005												
154259	N	hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic	19	19q13.2	TGFB1	46528490	46551656			16425360				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			World J Gastroenterol    2005    11(42)    6656-61	Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3		190180		CDC	2005	There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphis		interferon ribavirin									
154260		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Daher, S.  et al. 2006	16433832				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Am J Reprod Immunol    2006    55(2)    130-5	Cytokine genotyping in preeclampsia		190180		CDC	2006	Our study suggests that PE is associated with IL-10-(1082) polymorphism but not with TNF-(308) polymorphism. On the basis of meta-analysis, we confirm the need for more studies for the evaluation of cytokine genotype in disease.											
154261		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	19	19q13.2	TGFB1	46528490	46551656		Hersh, C. P.  et al. 2006	16456143				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Am J Respir Crit Care Med    2006	Genetic Association Analysis of Functional Impairment in Chronic Obstructive Pulmonary Disease		190180		CDC	2006	Polymorphisms in several genes seem to be associated with COPD-related traits other than FEV(1). These associations may identify genes in pathways important for COPD pathogenesis.											
154262	Y	prostatic hyperplasia	OTHER	OTH	Prostatic Hyperplasia	19	19q13.2	TGFB1	46528490	46551656		Mullan, R. J.  et al. 2006	16461080				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Urology    2006    67(2)    300-5	Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men		190180		CDC	2006	These findings suggest that transforming growth factor-beta 1, tumor necrosis factor-alpha, epidermal growth factor receptor, and vitamin D receptor polymorphisms may be involved in the pathogenesis of BPH.											
154263		nephropathy, IgA	RENAL	REN		19	19q13.2	TGFB1	46528490	46551656		Schena, F. P.  et al. 2006	16493441				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Eur J Hum Genet    2006	Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy		190180		CDC	2006												
154264		celiac disease	IMMUNE	IMM	Celiac Disease	19	19q13.2	TGFB1	46528490	46551656			16540751				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3		Italy	CDC GDP info	7040	Hs.155218			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		190180		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
154266		ossification of spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Horikoshi, T.  et al. 2006	16609882				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Hum Genet    2006    119(6)    611-6	A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine		190180		CDC	2006												
154267		indoleamine-pyrrole 2,3-dioxygenase activity	INFECTION	INF	Helicobacter Infections	19	19q13.2	TGFB1	46528490	46551656		Raitala, A.  et al. 2006	16620985				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Mol Immunol    2006	Helicobacter pylori-induced indoleamine 2,3-dioxygenase activity in vivo is regulated by TGFB1 and CTLA4 polymorphisms		190180		CDC	2006			Helicobacter pylori									
154268	N	bone density	METABOLIC	MET		19	19q13.2	TGFB1	46528490	46551656		Lau, H. H.  et al. 2006	16622736				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		190180		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
154269		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	19	19q13.2	TGFB1	46528490	46551656		Leung, W. K.  et al. 2006	16635219				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		190180		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
154270	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Damaraju, S.  et al. 2006	16638864				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		190180		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
154271	Y	proliferative vitreoretinopathy rhegmatogenous retinal detachment	VISION	VIS	Retinal Detachment|Vitreoretinopathy, Proliferative|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Sanabria Ruiz-Colmenares, M. R.  et al. 2006	16704689				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Acta Ophthalmol Scand    2006    84(3)    309-13	Cytokine gene polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy		190180		CDC	2006	An association between the TGF-beta1 genetic profile and the development of PVR was detected in this study. Further studies are necessary to confirm this finding and to establish its clinical relevance.											
154272		heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	19	19q13.2	TGFB1	46528490	46551656		Tambur, A. R.  et al. 2006	16730575				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		190180		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
154273			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Bagheri, M.  et al. 2006	16734562				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	7040	Hs.155218			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		190180		CDC	2006												
154275	N	pulmonary fibrosis sarcoidosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Kruit, A.  et al. 2006	16778279				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Chest    2006    129(6)    1584-91	Transforming Growth Factor-{beta} Gene Polymorphisms in Sarcoidosis Patients With and Without Fibrosis		190180		CDC	2006	This study is the first to suggest the implication of genetic variation of TGF-beta3 in the predilection for pulmonary fibrosis developing in sarcoidosis patients.											
154276		longevity	AGING	AGE	Inflammation	19	19q13.2	TGFB1	46528490	46551656		Capri, M.  et al. 2006	16803995				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Italian		CDC GDP info	7040	Hs.155218			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		190180		CDC	2006												
154277		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	19	19q13.2	TGFB1	46528490	46551656		Lee, T. C.  et al. 2006	16824159				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		190180		CDC	2006			Epstein-Barr virus									
154278		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Favorova, O. O.  et al. 2006	16872485				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Russian		CDC GDP info	7040	Hs.155218			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		190180		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
154280	N	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Dashash, M.  et al. 2006	16916659				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Hum Immunol    2006    67(8)    627-33	Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms		190180		CDC	2006												
154281		thrombosis	CARDIOVASCULAR	CARD	Thrombosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Lazo-Langner, A.  et al. 2006	16931622				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Blood    2006	The risk of dialysis access thrombosis is related to the transforming growth factor-{beta}1 production haplotype and is modified by polymorphisms in the plasminogen activator inhibitor-type 1 gene		190180		CDC	2006												
154282		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Basturk, B.  et al. 2006	16938461				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		190180		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
154284		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	19	19q13.2	TGFB1	46528490	46551656		Andreassen, C. N.  et al. 2006	16966185				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		190180		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
154285		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Liebhart, J.  et al. 2005	16989156				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Pneumonol Alergol Pol    2005    73(3)    216-20	TGF-beta1 gene polymorphism in chronic obstructive pulmonary disease		190180		CDC	2005												
154286		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Breast Cancer Association, = Consortium  et al. 2006	17018785				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		190180		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
154287	N	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Snyder, L. D.  et al. 2006	17097497				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Heart Lung Transplant    2006    25(11)    1330-5	Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant		190180		CDC	2006	Polymorphisms of TNF-alpha, IFN-gamma, TGF-beta1, IL-10 and IL-6 do not appear to influence the onset of BOS or graft survival in recipients.											
154289	N	kidney transplant	RENAL	REN		19	19q13.2	TGFB1	46528490	46551656		Gendzekhadze, K.  et al. 2006	17138053				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		190180		CDC	2006												
154290	Y	preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	19	19q13.2	TGFB1	46528490	46551656		Speer, E. M.  et al. 2006	17145371				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Hum Immunol    2006    67(11)    915-23	Role of single nucleotide polymorphisms of cytokine genes in spontaneous preterm delivery		190180		CDC	2006												
154291	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Jin, G.  et al. 2006	17187359				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Int J Cancer    2006	Variant alleles of TGFB1 and TGFBR2 are associated with a decreased risk of gastric cancer in a Chinese population		190180		CDC	2006												
154292		heart transplant	CARDIOVASCULAR	CARD		19	19q13.2	TGFB1	46528490	46551656		Girnita, D. M.  et al. 2006	17198275				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Hispanic Caucasian		CDC GDP info	7040	Hs.155218			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		190180		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
154293		sarcoidosis	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Morais, A.  et al. 2006	17206322				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Rev Port Pneumol    2006    12(6 Suppl 1)    16-7	Anti-inflammatory cytokines gene polymorphisms in sarcoidosis.		190180		CDC	2006	Our results suggest a contribution of the anti-inflammatory cytokines gene polymorphisms in sar- coidosis mainly in what susceptibility and clinical course is concerned. Key-wordgene polymorphisms, anti-inflammatory cytoki- nes, sarcoidosis.											
154294		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Babel, N.  et al. 2006	17209781				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			J Periodontol    2006    77(12)    1978-1983	Analysis of Tumor Necrosis Factor-alpha, Transforming Growth Factor-beta, Interleukin-10, IL-6, and Interferon-gamma Gene Polymorphisms in Patients With Chronic Periodontitis		190180		CDC	2006	The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.											
154296			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Kaur, G.  et al. 2007	17257312				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Indian		CDC GDP info	7040	Hs.155218			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		190180		CDC	2007												
154297		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Scola, L.  et al. 2006	17261759				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Ann N Y Acad Sci    2006    1089    104-109	Cytokine Gene Polymorphisms and Breast Cancer Susceptibility		190180		CDC	2006	further studies involving larger numbers of subjects are required.											
154298	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Cox, A. et al  et al. 2007	17293864				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		190180		CDC	2007												
154299		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	19	19q13.2	TGFB1	46528490	46551656		Tazon-Vega, B.  et al. 2007	17303584				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	European		CDC GDP info	7040	Hs.155218			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		190180		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
154301			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Zhang, W.  et al. 2007	17369174				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		190180		CDC	2007												
154302		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	19	19q13.2	TGFB1	46528490	46551656		Gidvani, V.  et al. 2007	17373677				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		190180		CDC	2007												
154303	Y	pneumoconiosis	IMMUNE	IMM		19	19q13.2	TGFB1	46528490	46551656		Fan, X. Y.  et al. 2007	17374177	TGFB1 (-509)CC protective, TGFB1 (+915)GC susceptible to pneumoconiosis			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2007    25(1)    1-4	Relationship between gene polymorphism of transforming growth factor-beta and pneumoconiosis		190180		CDC	2007	TGF-beta (-509)CC genotype may be the protective factor for the pneumoconiosis. TGF-beta (+915)GC genotype may be a susceptible factor for the pneumoconiosis. The workers of carrying TGF-beta (-509) * T and (+915) * C alleles are more susceptible to pneumoconiosis.											
154304	Y	duodenal ulcer gastric ulcer	OTHER	OTH	Helicobacter Infections|Duodenal Ulcer|Stomach Ulcer|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Polonikov, A. V.  et al. 2007	17376051	TGFB1  Leu10Pro and C-509T			Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Russian		CDC GDP info	7040	Hs.155218			J Gastroenterol Hepatol    2007    22(4)    555-64	Analysis of common transforming growth factor beta-1 gene polymorphisms in gastric and duodenal ulcer disease		190180		CDC	2007	These findings indicate that the Leu10Pro and C-509T polymorphisms may be involved in the modulation of expression of the TGF-beta1 gene, and therefore a predisposition to peptic ulcer disease could be linked to particular alleles of this gene. In particular, a possible role of TGF-beta1 in the pathogenesis of gastric ulcer disease is discussed.											
154305	Y	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic	19	19q13.2	TGFB1	46528490	46551656		Farkas, G. = Jr et al. 2007	17400536				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Eur Cytokine Netw    2007    18(1)    26-32	Relevance of transforming growth factor-beta1, interleukin-8, and tumor necrosis factor-alpha polymorphisms in patients with chronic pancreatitis		190180		CDC	2007	correlations of the TGF-beta1 and IL-8 single nucleotide polymorphisms (SNPs) with chronic pancreatitis underline the importance of these cytokines in the pathomechanism of the disease. Moreover, it seems that the TT genotype of +869 TGF-beta1 might be a risk factor for the development of a severe form of chronic pancreatitis, and could serve as a prognostic sign for any future surgical intervention or even repeat surgery. Further studies on a larger group of patients, in addition to a follow-up study, are necessary to confirm this preliminary observation.											
154306	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Prasad, P.  et al. 2007	17428349				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Japanese;Indian;Asian		CDC GDP info	7040	Hs.155218			BMC Med Genet    2007    8(1)    20	Association of TGFB1, TNFa, CCR2 and CCR5 gene polymorphisms in chronic renal insufficiency among Asian Indians with type-2 diabetes		190180		CDC	2007	Of the various cytokine gene polymorphisms tested, allele 59029A of CCR5 gene is significantly associated with diabetic renal insufficiency among Asian Indians.											
154307		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	19	19q13.2	TGFB1	46528490	46551656		Kumar, R.  et al. 2007	17498265				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Tissue Antigens    2007    69(6)    557-67	Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India		190180		CDC	2007												
154309	Y	nephropathy	RENAL	REN		19	19q13.2	TGFB1	46528490	46551656		Li, C. J.  et al. 2007	17545053				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(4)    535-7	Association between transforming growth factor beta-1 gene polymorphism and chronic allograft nephropathy		190180		CDC	2007	Most CAN patients have high TGF-beta1 production genotype, which might be a risk factor for CAN after renal transplantation. TGF-beta1 genotyping can be of value in predicting the risk of CAN after renal transplantation.											
154310	N	hepatitis B liver disease, chronic and cirrhosis	INFECTION	INF		19	19q13.2	TGFB1	46528490	46551656		Li, H.  et al. 2007	17557241				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    298-301	The association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis.		190180		CDC	2007												
154311	Y	stomach cancer	CANCER	CAN		19	19q13.2	TGFB1	46528490	46551656		Zhou, Y.  et al. 2007	17562261				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Ai Zheng    2007    26(6)    581-5	Correlations of Polymorphisms of TGFB1 and TGFBR2 Genes to Genetic Susceptibility to Gastric Cancer.		190180		CDC	2007	Genetic variants of TGFB1 and TGFBR2 genes may contribute to the risk of developing gastric cancer in an eastern Chinese population in Yixing city.											
154312		urinary tract infection vesicoureteral reflux	INFECTION	INF	Urinary Tract Infections|Vesico-Ureteral Reflux|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Yim, H. E.  et al. 2007	17597658				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Pediatr Res    2007	Genetic Control of VEGF and TGF-beta1 Gene Polymorphisms in Childhood Urinary Tract Infection and Vesicoureteral Reflux		190180		CDC	2007												
154313	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	19	19q13.2	TGFB1	46528490	46551656		Ribeiro, C. S.  et al. 2007	17612762				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Mem Inst Oswaldo Cruz    2007    102(4)    435-40	Association of cytokine genetic polymorphism with hepatites B infection evolution in adult patients		190180		CDC	2007												
154314		celiac disease	IMMUNE	IMM	Celiac Disease	1	1q41	TGFB2	216586490	216681593		Nuzzo, D.  et al. 2006	16608413				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDP info	7042	Hs.133379			Rejuvenation Res    2006    9(1)    153-6	Analysis of candidate genes in celiac disease		190220		CDC	2006												
154316		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Beisner, J.  et al. 2006	16885354			promoter	Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDP info	7042	Hs.133379			Cancer Res    2006    66(15)    7554-61	A Novel Functional Polymorphism in the Transforming Growth Factor-{beta}2 Gene Promoter and Tumor Progression in Breast Cancer		190220		CDC	2006												
154317	N	bone density osteoporosis	METABOLIC	MET	Osteoporosis|Fractures, Bone	1	1q41	TGFB2	216586490	216681593		Hubacek, J.A. et al. 2006	17201588				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1	Caucasian		CDC GDP info	7042	Hs.133379			Endocr Regul    2006    40(4)    107-12	NO ASSOCIATIONS BETWEEN GENETIC POLYMORPHISMS OF TGFss, PAI-1, AND COL1A1, AND BONE MINERAL DENSITY IN CAUCASIAN FEMALES		190220		CDC	2006												
154319	Y	pulmonary fibrosis sarcoidosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	14	14q24	TGFB3	75494194	75517242		Kruit, A.  et al. 2006	16778279				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1			CDC GDP info	7043	Hs.592317			Chest    2006    129(6)    1584-91	Transforming Growth Factor-{beta} Gene Polymorphisms in Sarcoidosis Patients With and Without Fibrosis		190230		CDC	2006	This study is the first to suggest the implication of genetic variation of TGF-beta3 in the predilection for pulmonary fibrosis developing in sarcoidosis patients.											
154320	N	cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	14	14q24	TGFB3	75494194	75517242		Morkuniene, A.  et al. 2007	17272867				Transforming growth factor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003239.1			CDC GDP info	7043	Hs.592317			J Appl Genet    2007    48(1)    87-9	Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania		190230		CDC	2007												
154321		breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast|Neoplasm Invasiveness|Disease Progression	9	9q22	TGFBR1	100907232	100956294			16428477	TGFBR1   Int7G24A			Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDP info	7046	Hs.494622			Clin Cancer Res    2006    12(2)    392-7	Int7G24A Variant of Transforming Growth Factor-{beta} Receptor Type I Is Associated with Invasive Breast Cancer		190181		CDC	2006	These data suggest that the germline Int7G24A variant may represent a risk factor for invasive breast cancer and a marker for breast cancer progression.											
154322	N	diabetes, type 1 diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	9	9q22	TGFBR1	100907232	100956294		McKnight, A. J.  et al. 2007	17319955				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2	Caucasian;Irish		CDC GDP info	7046	Hs.494622			BMC Med Genet    2007    8(1)    5	Resequencing of genes for transforming growth factorB1 (TGFB1), type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy		190181		CDC	2007	Our results suggest common variants in TGFB1, TGFBR1 and TGFBR2 genes do not strongly influence genetic susceptibility to diabetic nephropathy in an Irish Caucasian population.											
154323		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Daley, D.  et al. 2007	17507611				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDP info	7046	Hs.494622			Cancer Epidemiol Biomarkers Prev    2007    16(5)    892-4	Is TGFBR1*6A a Susceptibility Allele for Nonsyndromic Familial Colorectal Neoplasia?		190181		CDC	2007	there remains an unidentified susceptibility locus in the region 9q22.											
154325	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		You, W.  et al. 2007	17607123	TGFBR1*6A			Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDP info	7046	Hs.494622			J Thorac Oncol    2007    2(7)    657-659	No Association between TGFBR1*6A and Lung Cancer		190181		CDC	2007	We have no evidence to support the hypothesis that TGFBR1*6A is associated with$$$ lung cancer.											
154326	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	3	3p22	TGFBR2	30622997	30710637		Jin, G.  et al. 2006	17187359				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDP info	7048	Hs.82028			Int J Cancer    2006	Variant alleles of TGFB1 and TGFBR2 are associated with a decreased risk of gastric cancer in a Chinese population		190182		CDC	2006												
154327	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Microsatellite Instability	3	3p22	TGFBR2	30622997	30710637		Ogino, S.  et al. 2007	17270239				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDP info	7048	Hs.82028			Hum Pathol    2007	TGFBR2 mutation is correlated with CpG island methylator phenotype in microsatellite instability-high colorectal cancer		190182		CDC	2007	TGFBR2 mutation is associated with CIMP-high and indirectly with RUNX3 methylation. Our findings emphasize the importance of analyzing global epigenomic status (for which CIMP status is a surrogate marker) when correlating a single epigenetic event (eg, RUNX3 methylation) with any other molecular or clinicopathologic variables.											
154328	N	diabetes, type 1 diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	3	3p22	TGFBR2	30622997	30710637		McKnight, A. J.  et al. 2007	17319955				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1	Caucasian;Irish		CDC GDP info	7048	Hs.82028			BMC Med Genet    2007    8(1)    5	Resequencing of genes for transforming growth factorB1 (TGFB1), type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy		190182		CDC	2007	Our results suggest common variants in TGFB1, TGFBR1 and TGFBR2 genes do not strongly influence genetic susceptibility to diabetic nephropathy in an Irish Caucasian population.											
154329		aneurysm, aortic	CARDIOVASCULAR	CARD	Marfan Syndrome|Aneurysm, Dissecting|Aortic Aneurysm	3	3p22	TGFBR2	30622997	30710637		Waldmuller, S.  et al. 2007	17418587				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDP info	7048	Hs.82028			Eur J Cardiothorac Surg    2007	Genetic testing in patients with aortic aneurysms/dissections		190182		CDC	2007	Detecting a mutation in the genes FBN1 and TGFBR2 proves the genetic origin of vascular findings and allows the identification of family members at risk who should undergo preventive checkups.											
154330		schizophrenia	PSYCH	PSY		3	3p22	TGFBR2	30622997	30710637		Numata, S.  et al. 2007	17560608				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDP info	7048	Hs.82028			J Psychiatr Res    2007	TGFBR2 gene expression and genetic association with schizophrenia		190182		CDC	2007												
154332	Y	premature ovarian failure primary amenorrhea	REPRODUCTION	REP	Ovarian Failure, Premature|Genetic Predisposition to Disease|Amenorrhea	1	1p33-p32	TGFBR3	91920574	92144147		Dixit, H.  et al. 2006	16613887				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDP info	7049	Hs.482390			Hum Reprod    2006	Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure		600742		CDC	2006	This study establishes the first mutational report of the TGFBR3 gene in correlation with ovarian failure.											
154333	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1p33-p32	TGFBR3	91920574	92144147		Adewoye, A. H.  et al. 2006	16886151				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDP info	7049	Hs.482390			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		600742		CDC	2006												
154334		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	1	1p33-p32	TGFBR3	91920574	92144147		Elliott, L.  et al. 2007	17408468				Transforming growth factor, beta receptor III (betaglycan, 300kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003243.2			CDC GDP info	7049	Hs.482390			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		600742		CDC	2007												
154335		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	2	2q12.1-q12.2	TGFBRAP1	105249971	105312561		Hwang, Y.  et al. 2006	16886895				Transforming growth factor, beta receptor associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004257			CDC GDP info	9392	Hs.446350			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C				CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
154336	N	myopia	VISION	VIS	Myopia	18	18p11.3	TGIF1	3402071	3448406		Hasumi, Y.  et al. 2006	17048038				TGFB-induced factor homeobox 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170695	Japanese;Chinese;European		CDC GDP info	7050	Hs.373550			Immunogenetics    2006	Analysis of single nucleotide polymorphisms at 13 loci within the transforming growth factor-induced factor gene shows no association with high myopia in Japanese subjects				CDC	2006												
154338		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	11	11p15.5	TH	2141734	2149611		Hertz, J. M.  et al. 2006	16643317				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2	Danish		CDC GDP info	7054	Hs.435609			Eur J Neurol    2006    13(4)    385-90	Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease		191290		CDC	2006	homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early-onset of the disease.											
154339	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Li, D.  et al. 2006	16741719				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Hum Genet    2006    120(1)    22-30	Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia		191290		CDC	2006												
154340		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Jacewicz, R.  et al. 2006	16887311				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Forensic Sci Int    2006	Will genetic polymorphism of tetranucleotide sequences help in the diagnostics of major psychiatric disorders?		191290		CDC	2006												
154342	N	suicide	PSYCH	PSY		11	11p15.5	TH	2141734	2149611		Hattori, H.  et al. 2006	17329957				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Kobe J Med Sci    2006    52(6)    195-200	No evidence of an association between tyrosine hydroxylase gene polymorphisms and suicide victims		191290		CDC	2006												
154344	N	cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Auro, K.  et al. 2006	16456088				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDP info	7056	Hs.2030			Arterioscler Thromb Vasc Biol    2006	Thrombomodulin Gene Polymorphisms and Haplotypes and the Risk of Cardiovascular Events. A Prospective Follow-Up Study		188040		CDC	2006	Results from this prospective, population-based study suggest that common allelic variants of the thrombomodulin gene may not significantly contribute to the risk of cardiovascular events at the population level.											
154345	Y	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Sugiyama, S.  et al. 2006	16507317	THBD  2729A>C and A455V missense mutation			Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDP info	7056	Hs.2030			Thromb Res    2006	Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population		188040		CDC	2006	TM mutations, especially those with a haplotype consisting of 2729A>C and A455V missense mutation, affect sTM levels, and may be associated with DVT in Japanese.											
154346			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	20	20p12-cen	THBD	22974269	22978301		Hoppe, B.  et al. 2006	17003923				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2	German		CDC GDP info	7056	Hs.2030			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		188040		CDC	2006												
154347	N	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	20	20p12-cen	THBD	22974269	22978301		Kaare, M.  et al. 2006	17099210				Thrombomodulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000361.2			CDC GDP info	7056	Hs.2030			Hum Reprod    2006	Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage		188040		CDC	2006	These data suggest that mutations in the TM or EPCR genes are not a major cause of RM, although they may exert a modifier effect in combination with other variants.											
154349	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	15	15q15	THBS1	37660571	37676960		Zwicker, J. I.  et al. 2006	16684956	THBS1  N700S			Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2			CDC GDP info	7057	Hs.164226			Blood    2006	The thrombospondin-1 N700S polymorphism is associated with early myocardial infarction without altering von Willebrand Factor multimer size		188060		CDC	2006												
154350		prostate cancer	CANCER	CAN	Adenocarcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q15	THBS1	37660571	37676960		Sfar, S.  et al. 2007	17175378				Thrombospondin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003246.2			CDC GDP info	7057	Hs.164226			Cancer Genet Cytogenet    2007    172(1)    38-44	TSP1 and MMP9 genetic variants in sporadic prostate cancer		188060		CDC	2007												
154351	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	6	6q27	THBS2	169357799	169396062		Park, B. L.  et al. 2006	17202846			promoter	Thrombospondin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003247.2	Korean		CDC GDP info	7058	Hs.371147			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		188061		CDC	2006												
154352	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6q27	THBS2	169357799	169396062		Yamaguchi, S.  et al. 2007	17334638				Thrombospondin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003247.2			CDC GDP info	7058	Hs.371147			Int J Mol Med    2007    19(4)    631-7	Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus		188061		CDC	2007												
154353	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	5	5q13	THBS4	79366746	79414863		Cui, J.  et al. 2006	16923428				Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3			CDC GDP info	7060	Hs.211426			Am Heart J    2006    152(3)    543.e1-5	Thrombospondin-4 1186G>C (A387P) is a sex-dependent risk factor for myocardial infarction		600715		CDC	2006	Homozygosity for the THBS-4 1186C variant is a weak risk factor for MI especially in older women.											
154354	N	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	5	5q13	THBS4	79366746	79414863		Park, B. L.  et al. 2006	17202846			promoter	Thrombospondin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003248.3	Korean		CDC GDP info	7060	Hs.211426			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		600715		CDC	2006												
154355		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q33.3	TIMD4	156278947	156322844		Page, N. S.  et al. 2006	16940744				T-cell immunoglobulin and mucin domain containing 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM559521	Australian;Caucasian;Asian		CDC GDP info	91937	Hs.334907			Int Arch Allergy Immunol    2006    141(4)    331-336	Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis				CDC	2006	In addition to confirming the importance of genetic variation in TIM-1, our results also suggest that genetic variants in the ligand for TIM-1, TIM-4, also contribute to the presentation of AD and related disorders.											
154356	Y	asthma	IMMUNE	IMM		5	5q33.3	TIMD4	156278947	156322844		Xia, Y.  et al. 2007	17407086				T-cell immunoglobulin and mucin domain containing 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM559521			CDC GDP info	91937	Hs.334907			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(2)    213-6	Study on relationship between polymorphism sites of TIM4 and allergic asthma in the population of Han nationality from Hubei province of China.				CDC	2007	The polymorphism of 8570G > A in TIM4 may be associated with allergic asthma in the population of Han nationality from Hubei province of China.											
154358	N	myopia	VISION	VIS	Myopia	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Liang, C. L.  et al. 2006	16935611				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2		Taiwan	CDC GDP info	7076	Hs.522632			Am J Ophthalmol    2006    142(3)    518-20	Evaluation of MMP3 and TIMP1 as Candidate Genes for High Myopia in Young Taiwanese Men		305370		CDC	2006	The two genes may not play a crucial role for high myopia in young Taiwanese men.											
154359		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Kubben, F. J.  et al. 2006	16940985				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDP info	7076	Hs.522632			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		305370		CDC	2006												
154360		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Indelicato, M.  et al. 2006	16960901				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2	Italian		CDC GDP info	7076	Hs.522632			J Clin Lab Anal    2006    20(5)    173-176	Analysis of TIMP-1 Gene Polymorphisms in Italian Sclerodermic Patients		305370		CDC	2006												
154361		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Powell, J. T.  et al. 2006	17182940				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDP info	7076	Hs.522632			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		305370		CDC	2006												
154362	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	X	Xp11.3-p11.23	TIMP1	47326633	47331134		Meijer, M. J.  et al. 2007	17589947				TIMP metallopeptidase inhibitor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003254.2			CDC GDP info	7076	Hs.522632			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		305370		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
154363		H. pylori infection stomach cancer	CANCER	CAN	Stomach Neoplasms|Disease Progression	17	17q25	TIMP2	74360653	74433067		Kubben, F. J.  et al. 2006	16940985				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDP info	7077	Hs.104839			Br J Cancer    2006	Clinical impact of MMP and TIMP gene polymorphisms in gastric cancer		188825		CDC	2006												
154365	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Vairaktaris, E.  et al. 2007	17342343				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4	European;German;Greek		CDC GDP info	7077	Hs.104839			Oncol Rep    2007    17(4)    963-8	Strong association of the tissue inhibitor of metalloproteinase-2 polymorphism with an increased risk of oral squamous cell carcinoma in Europeans		188825		CDC	2007	the studied TIMP-2 polymorphism is strongly associated with an increased risk of OSCC in Europeans carrying the low C allele expression. These results indicate that this polymorphism could serve as a genetic marker for the susceptibility of cancer in the oral cavity.											
154366	Y	periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Chen, D.  et al. 2007	17448043				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDP info	7077	Hs.104839			J Clin Periodontol    2007    34(5)    384-9	MMP-2, MMP-9 and TIMP-2 gene polymorphisms in Chinese patients with generalized aggressive periodontitis		188825		CDC	2007	It is suggested that the TIMP2 -418G to C gene polymorphism is associated with G-AgP in the Chinese subjects.											
154368		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	22	22q12.1-q13.2	TIMP3	31526801	31589028		Lei, H.  et al. 2006	17033924			promoter	TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000362.4			CDC GDP info	7078	Hs.297324			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		188826		CDC	2006												
154369	Y	tuberculosis	INFECTION	INF	Tuberculosis, Meningeal|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	11	11q24.2	TIRAP	125658191	125670038		Hawn, T. R.  et al. 2006	16991088				Toll-interleukin 1 receptor (TIR) domain containing adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148910.2			CDC GDP info	114609	Hs.537126			J Infect Dis    2006    194(8)    1127-34	A polymorphism in toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis		606252		CDC	2006	These results provide the first evidence of an association of a TIRAP SNP with the risk of any disease and also suggest that the Toll-like receptor pathway influences susceptibility to meningeal and pulmonary TB by different immune mechanisms.											
154370		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR10	38450646	38460984			16537705				Toll-like receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030956.2		Sweden	CDC GDP info	81793	Hs.120551			Cancer Epidemiol Biomarkers Prev    2006    15(3)    480-5	Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk		606270		CDC	2006												
154371	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR10	38450646	38460984		Zhou, X. X.  et al. 2006	16702361				Toll-like receptor 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030956.2		China	CDC GDP info	81793	Hs.120551			Cancer Epidemiol Biomarkers Prev    2006    15(5)    862-6	Sequence variants in toll-like receptor 10 are associated with nasopharyngeal carcinoma risk		606270		CDC	2006												
154373		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807			16537705				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3		Sweden	CDC GDP info	7096	Hs.575090			Cancer Epidemiol Biomarkers Prev    2006    15(3)    480-5	Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk		601194		CDC	2006												
154374		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807		Nieters, A.  et al. 2006	16971956				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3		Germany	CDC GDP info	7096	Hs.575090			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		601194		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
154375	Y	urinary tract infection	INFECTION	INF	Urinary Tract Infections|Recurrence	4	4p14	TLR1	38474270	38482807		Karoly, E.  et al. 2007	17314700				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3			CDC GDP info	7096	Hs.575090			Pediatr Res    2007    61(3)    371-374	Heat Shock Protein 72 (HSPA1B) Gene Polymorphism and Toll-Like Receptor (TLR) 4 Mutation Are Associated with Increased Risk of Urinary Tract Infection in Children		601194		CDC	2007												
154377	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pleural|Tuberculosis, Pulmonary	4	4q32	TLR2	154824890	154846692		Yim, J. J.  et al. 2006	16437124			Intron	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean	Korea	CDC GDP info	7097	Hs.519033			Genes Immun    2006	The association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and tuberculosis among Koreans		603028		CDC	2006	the development of TB disease in Koreans was associated with shorter GT repeats in intron II of the TLR2 gene.											
154378		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Lee, P. L.  et al. 2006	16608528				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		California	CDC GDP info	7097	Hs.519033			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		603028		CDC	2006												
154379		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Lee, E. Y.  et al. 2006	16712654			Intron	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean		CDC GDP info	7097	Hs.519033			Int J Immunogenet    2006    33(3)    211-215	Dinucleotide repeat polymorphism in intron II of human Toll-like receptor 2 gene and susceptibility to rheumatoid arthritis		603028		CDC	2006												
154380		lung disease, mycobacteria	INFECTION	INF	Mycobacterium Infections, Atypical|Mycobacterium avium-intracellulare Infection|Lung Diseases|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Ryu, Y. J.  et al. 2006	16829623				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean		CDC GDP info	7097	Hs.519033			Clin Vaccine Immunol    2006    13(7)    818-9	Toll-like receptor 2 polymorphisms and nontuberculous mycobacterial lung diseases		603028		CDC	2006												
154382		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Bacanli, A.  et al. 2006	16901312				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Clin Exp Dermatol    2006    31(5)    699-701	Toll-like receptor 2 Arg753Gln gene polymorphism in Turkish patients with Behcet's disease		603028		CDC	2006												
154383	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	4	4q32	TLR2	154824890	154846692		Kozlowski, P.  et al. 2006	16907704				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		603028		CDC	2006												
154384		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Nieters, A.  et al. 2006	16971956				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		Germany	CDC GDP info	7097	Hs.519033			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		603028		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
154386	N	rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Duzgun, N.  et al. 2006	17096074				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Turkish		CDC GDP info	7097	Hs.519033			Clin Rheumatol    2006	The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorphisms with rheumatic heart disease		603028		CDC	2006												
154387	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	4	4q32	TLR2	154824890	154846692		Santin, I.  et al. 2006	17130564				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Ann N Y Acad Sci    2006    1079    268-72	No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population		603028		CDC	2006												
154388		bacteremia	INFECTION	INF	Bacteremia|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Yoon, H. J.  et al. 2006	17179672				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean	Korea	CDC GDP info	7097	Hs.519033			J Korean Med Sci    2006    21(6)    979-82	Lack of Toll-like Receptor 4 and 2 Polymorphisms in Korean Patients with Bacteremia		603028		CDC	2006												
154389	N	pneumonia	INFECTION	INF	Pneumonia, Pneumococcal	4	4q32	TLR2	154824890	154846692		Moens, L.  et al. 2006	17196867				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Caucasian		CDC GDP info	7097	Hs.519033			Microbes Infect    2006	Toll-like receptor 2 and Toll-like receptor 4 polymorphisms in invasive pneumococcal disease		603028		CDC	2006	We found no association between TLR2 and TLR4 polymorphisms and invasive pneumococcal infection.											
154390	N	bronchiectasis	OTHER	OTH	Bronchiectasis	4	4q32	TLR2	154824890	154846692		Kim, H. J.  et al. 2007	17207025			Intron	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Korean	Korea	CDC GDP info	7097	Hs.519033			Respirology    2007    12(1)    49-53	Lack of association between the microsatellite polymorphism in intron 2 of human Toll-like receptor 2 gene and bronchiectasis among Koreans		603028		CDC	2007	Alleles and genotype including the shorter GT repeats in intron 2 of the TLR2, were not associated with the development, extent and bacterial colonization of bronchiectasis in Koreans.											
154391	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Devlin, S. M.  et al. 2006	17258734				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Gastroenterology    2006	NOD2 Variants and Antibody Response to Microbial Antigens in Crohn's Disease Patients and Their Unaffected Relatives		603028		CDC	2006	Patients with Crohn\s disease and unaffected relatives carrying variants of the NOD2 gene have increased adaptive immune responses to microbial antigens.											
154392		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection		603028		CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154394	N	C-reactive protein intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Obesity|Diabetes Complications|Genetic Predisposition to Disease|Inflammation	4	4q32	TLR2	154824890	154846692		Labrum, R.  et al. 2007	17332447				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3		Great Britain	CDC GDP info	7097	Hs.519033			Stroke    2007	Toll Receptor Polymorphisms and Carotid Artery Intima-Media Thickness		603028		CDC	2007	In this large community population, we found no evidence for genetic variation in these two TLRs being risk factors for increased IMT either directly or through interaction with proinflammatory risk factors.		body mass c-reacitve protein diabetes smoking (tobacco)									
154395		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Mockenhaupt, F. P.  et al. 2006	17373355				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Caucasian		CDC GDP info	7097	Hs.519033			J Commun Dis    2006    38(3)    230-45	Toll-like receptor (TLR) polymorphisms in African children		603028		CDC	2006												
154396	P		NORMALVARIATION	NV		4	4q32	TLR2	154824890	154846692		Merx, S.  et al. 2007	17409197				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Caucasian		CDC GDP info	7097	Hs.519033			Hum Mol Genet    2007	Characterization and investigation of single-nucleotide polymorphisms (SNPs) and a novel TLR2 mutation in the human TLR2 gene		603028		CDC	2007												
154398	Y	tuberculosis meningitis	INFECTION	INF	Tuberculosis, Meningeal|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Thuong, N. T.  et al. 2007	17554342				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Genes Immun    2007	A polymorphism in human TLR2 is associated with increased susceptibility to tuberculous meningitis		603028		CDC	2007												
154399		febrile bacterial infection, recurrent	INFECTION	INF	Respiratory Tract Infections|Genetic Predisposition to Disease|Recurrence	4	4q32	TLR2	154824890	154846692		Kutukculer, N.  et al. 2007	17554618				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Turkish		CDC GDP info	7097	Hs.519033			Biochem Genet    2007	Arg753Gln Polymorphism of the Human Toll-like Receptor-2 Gene in Children with Recurrent Febrile Infections		603028		CDC	2007												
154400	N	periodontitis	IMMUNE	IMM	Gingival Hemorrhage|Periodontitis|Dental Plaque|Chronic Disease	4	4q32	TLR2	154824890	154846692		Berdeli, A.  et al. 2007	17555409				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Turkish		CDC GDP info	7097	Hs.519033			J Clin Periodontol    2007    34(7)    551-7	TLR2 Arg753Gly, TLR4 Asp299Gly and Thr399Ile gene polymorphisms are not associated with chronic periodontitis in a Turkish population		603028		CDC	2007	These results showed that the TLR2 and TLR4 gene polymorphisms studied are not associated with susceptibility to CP in Turkish patients.											
154402		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Wang, F.  et al. 2007	17565650				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			J Gastroenterol Hepatol    2007    22(6)    925-9	Genetic polymorphisms of CD14 and Toll-like receptor-2 (TLR2) in patients with ulcerative colitis		603028		CDC	2007	The results suggest that existence of a mutation in the CD14 gene is associated with$$$ an increased susceptibility to developing UC, especially chronic continuous distal colitis phenotypes that develop after 20 years of age.		steroids									
154403		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Henckaerts, L. C.  et al. 2007	17595233				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		603028		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
154404		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	4	4q35	TLR3	187227302	187243246		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003265.2			CDC GDP info	7098	Hs.543332			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection		603029		CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154406	N	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	9	9q32-q33	TLR4	119506430	119519587			16202743				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		603030		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
154408	N	pouchitis	OTHER	OTH	Pouchitis|Chronic Disease|Recurrence	9	9q32-q33	TLR4	119506430	119519587		Lammers, K.  et al. 2005	16437636				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian;Italian		CDC GDP info	7099	Hs.174312			World J Gastroenterol    2005    11(46)    7323-9	Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis		603030		CDC	2005	There is no evidence that the SNPs predispose to the need for IPAA surgery.											
154409	Y	kidney transplant	RENAL	REN	Inflammation	9	9q32-q33	TLR4	119506430	119519587		Fekete, A.  et al. 2006	16441767				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Transpl Int    2006    19(3)    190-6	Association between heat shock protein 70s and Toll-like receptor polymorphisms with long-term renal allograft survival		603030		CDC	2006												
154410	N	aspergillosis	INFECTION	INF	Aspergillosis|Lung Diseases, Fungal|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Kesh, S.  et al. 2005	16461792				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann N Y Acad Sci    2005    1062    95-103	TLR1 and TLR6 Polymorphisms Are Associated with Susceptibility to Invasive Aspergillosis after Allogeneic Stem Cell Transplantation		603030		CDC	2005												
154411	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		De Staercke, C.  et al. 2006	16469362			promoter	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Thromb Res    2006	The lack of association between four point mutations in the promoter region of the toll-like 4 receptor gene and myocardial infarction		603030		CDC	2006												
154412	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Pabst, S.  et al. 2006	16487240				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian		CDC GDP info	7099	Hs.174312			Clin Exp Immunol    2006    143(3)    420-6	Toll-like receptor (TLR) 4 polymorphisms are associated with a chronic course of sarcoidosis		603030		CDC	2006												
154413	N	cytokine release mortality	IMMUNE	IMM	Neoplasms	9	9q32-q33	TLR4	119506430	119519587			16525349				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Shock    2006    25(2)    123-128	PRE- AND POSTOPERATIVE CYTOKINE RELEASE AFTER IN VITRO WHOLE BLOOD LIPOPOLYSACCHARIDE STIMULATION AND FREQUENT TOLL-LIKE RECEPTOR 4 POLYMORPHISMS		603030		CDC	2006	mortality was unaffected by the TLR4 SNP.											
154414	Y	kidney transplant	INFECTION	INF	Bacterial Infections|Postoperative Complications	9	9q32-q33	TLR4	119506430	119519587		Palmer, S. M.  et al. 2006	16556150				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Clin Transplant    2006    20(1)    30-6	Donor polymorphisms in Toll-like receptor-4 influence the development of rejection after renal transplantation		603030		CDC	2006	The results suggest activation of innate immunity through TLR4 in the donor kidney contributes to the development of acute rejection after renal transplantation.											
154415	N	arthritis spondyloarthropathies	IMMUNE	IMM	Arthritis, Reactive|Spondylitis, Ankylosing	9	9q32-q33	TLR4	119506430	119519587		Gergely Jr, P.  et al. 2006	16567359				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Rheumatology (Oxford)    2006	Lack of genetic association of the Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms with spondylarthropathies in a Hungarian population		603030		CDC	2006	Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. Functional abnormalities of the TLR4 signalling pathway suggested in spondylarthropathies seem not to be genetically determined by these two common polymorphisms.											
154416		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	9	9q32-q33	TLR4	119506430	119519587		Kuuliala, K.  et al. 2006	16606645				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Finnish		CDC GDP info	7099	Hs.174312			Ann Rheum Dis    2006	Polymorphism at position +896 of the Toll-like receptor 4 gene interferes with rapid response to therapy in rheumatoid arthritis		603030		CDC	2006			antirheumatic drugs prednisolone									
154418	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Guo, Q.  et al. 2006	16706818				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Gastroenterol Hepatol    2006    21(1 Pt 1)    92-7	Polymorphism of CD14 gene but not the mutation of TLR4 gene is associated with colorectal cancer in Chinese patients		603030		CDC	2006	These findings indicated that the polymorphism of CD14 but not TLR4 Asp299Gly mutation was associated with Chinese patients with colorectal cancer, and the CD14 gene may contribute to the predisposition to colorectal cancer.											
154419		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Forrest, M. S.  et al. 2006	16740140				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Br J Haematol    2006	Polymorphisms in innate immunity genes and risk of non-Hodgkin lymphoma		603030		CDC	2006												
154421		longevity	AGING	AGE	Inflammation	9	9q32-q33	TLR4	119506430	119519587		Capri, M.  et al. 2006	16803995				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Italian		CDC GDP info	7099	Hs.174312			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		603030		CDC	2006												
154422		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	9	9q32-q33	TLR4	119506430	119519587		Urquhart, D. S.  et al. 2006	16830219				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Arch Immunol Ther Exp (Warsz)    2006	Modifier effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis		603030		CDC	2006	Potential reasons for absence of modifier effect include the basolateral location of TLR4 receptors on respiratory epithelium, or because inflammatory response to PA in the CF airway is so overwhelming that even a blunted response (as suggested for the 299G allele) results in increased inflammation and lung damage.											
154423	N	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Adam, R.  et al. 2006	16837493				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann Rheum Dis    2006    65(8)    1099-101	TLR4 mutations (Asp299Gly and Thr399Ile) are not associated with ankylosing spondylitis		603030		CDC	2006	Two common TLR4 polymorphisms, which cause a functional deficiency in host immune response to Gram negative bacteria, are not overrepresented in patients with AS.											
154424		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Figueroa, C.  et al. 2006	16840031				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	European;South American		CDC GDP info	7099	Hs.174312			Eur Cytokine Netw    2006    17(2)    125-30	NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patients with inflammatory bowel disease		603030		CDC	2006												
154426	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Boraska Jelavic, T.  et al. 2006	16879199				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Clin Genet    2006    70(2)    156-60	Microsatelite GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer		603030		CDC	2006	we report an association of microsatelite GT polymorphisms of TLR2 gene and Asp299Gly polymorphism of the TLR4 gene with sporadic colorectal cancer among Croatians.											
154428	Y	atherosclerosis	CARDIOVASCULAR	CARD	Atherosclerosis|Peripheral Vascular Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Vainas, T.  et al. 2006	16890863	TLR4 G			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Vasc Surg    2006    44(2)    326-32	Synergistic effect of Toll-like receptor 4 and CD14 polymorphisms on the total atherosclerosis burden in patients with peripheral arterial disease		603030		CDC	2006	The carrier trait TLR4 G allele/CD14 TT genotype, rather than each SNP individually, is associated with$$$ the extent of clinically relevant atherosclerotic disease. Considering the importance of immune responses in atherogenesis and the genetic variation of immune regulatory genes, our data provide an explanation for interindividual differences in susceptibility to atherosclerosis and demonstrate the need to take a wider approach in analyzing relevant carrier traits instead of individual polymorphisms in relation to atherosclerosis.			CD14	CD14 TT	TLR4	TLR4 G					
154429	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	9	9q32-q33	TLR4	119506430	119519587		Kozlowski, P.  et al. 2006	16907704				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		603030		CDC	2006												
154430	N	macular degeneration	VISION	VIS	Macular Degeneration	9	9q32-q33	TLR4	119506430	119519587		Kaur, I.  et al. 2006	16936080				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Indian		CDC GDP info	7099	Hs.174312			Invest Ophthalmol Vis Sci    2006    47(9)    3729-35	Analysis of CFH, TLR4, and APOE Polymorphism in India Suggests the Tyr402His Variant of CFH to be a Global Marker for Age-Related Macular Degeneration		603030		CDC	2006	The CFH polymorphism Tyr402His appears indicative of AMD pathogenesis.											
154432	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	9	9q32-q33	TLR4	119506430	119519587		Tseng, F. C.  et al. 2006	16961803				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		603030		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
154433	Y	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms	9	9q32-q33	TLR4	119506430	119519587		Song, C.  et al. 2006	16969132			3' untranslated region	Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Cancer Biol Ther    2006    5(10)	Functional Variant in the 3'-untranslated Region of Toll-Like Receptor 4 is Associated with Nasopharyngeal Carcinoma Risk		603030		CDC	2006												
154434		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Nieters, A.  et al. 2006	16971956				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Germany	CDC GDP info	7099	Hs.174312			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		603030		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
154435	N	pregnancy loss	REPRODUCTION	REP	Abortion, Spontaneous	9	9q32-q33	TLR4	119506430	119519587		Hirschfeld, A. F.  et al. 2006	16982657				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Hum Reprod    2006	Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage		603030		CDC	2006	There was no association between fetal TLR4 polymorphisms, Asp299Gly and Thr399Ile, known to blunt LPS responsiveness, and the risk of idiopathic, chromosomally normal miscarriage.											
154437	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Landi, S.  et al. 2006	17062130				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		603030		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
154438	N	stomach cancer	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Wu, M. S.  et al. 2006	17086894				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Hepatogastroenterology    2006    53(71)    807-10	Functional polymorphisms of CD14 and toll-like receptor 4 in Taiwanese Chinese with Helicobacter pylori-related gastric malignancies		603030		CDC	2006	These data suggest no apparent association of CD14 polymorphisms with H.											
154439	N	rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Duzgun, N.  et al. 2006	17096074				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Turkish		CDC GDP info	7099	Hs.174312			Clin Rheumatol    2006	The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorphisms with rheumatic heart disease		603030		CDC	2006												
154440	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Inflammatory Bowel Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Karlsen, T. H.  et al. 2006	17100974				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	European;Scandinavian	Scandinavia	CDC GDP info	7099	Hs.174312			Am J Gastroenterol    2006	Genetic Polymorphisms Associated With Inflammatory Bowel Disease Do Not Confer Risk for Primary Sclerosing Cholangitis		603030		CDC	2006	It seems unlikely that IBD-associated polymorphisms in the CARD15, TLR-4, CARD4, SLC22A4, SLC22A5, DLG5, and MDR1 genes confer susceptibility to PSC. The current knowledge of genetic risk factors in IBD may not contribute to our understanding of molecular mechanisms involved in the pathogenesis of PSC or the IBD phenotype in PSC.											
154441	N	myocardial infarct	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Coronary Stenosis|Myocardial Infarction|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		Hernesniemi, J.  et al. 2006	17101559				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Finland	CDC GDP info	7099	Hs.174312			Scand J Clin Lab Invest    2006    66(8)    667-76	Toll-like receptor 4 polymorphism is associated with coronary stenosis but not with the occurrence of acute or old myocardial infarctions		603030		CDC	2006	The G allele of the TLR-4 gene, which is associated with$$$ a lower inflammation response, was associated with a lower risk of coronary stenosis but not with the occurrence of MI and hence is not a major factor in the development of coronary atherosclerosis.											
154442		pancreatitis, acute	OTHER	OTH	Pancreatitis|Acute Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Hofner, P.  et al. 2006	17124436				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Hungary	CDC GDP info	7099	Hs.174312			Pancreatology    2006    6(6)    542-548	Polymorphism in the IL-8 Gene, but Not in the TLR4 Gene, Increases the Severity of Acute Pancreatitis		603030		CDC	2006	Determination of the frequency of IL-8 polymorphism in acute pancreatitis may be informative and may provide further evidence concerning the role of IL-8 in the severe form of this disease. The possible role of TLR4 polymorphism in the outcome of severe acute pancreatitis requires further investigations in a larger series of patients.											
154444		ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Snelgrove, T.  et al. 2006	17143969				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Rheumatol    2006	Association of Toll-like Receptor 4 Variants and Ankylosing Spondylitis		603030		CDC	2006	Given the functional role of TLR4 variants in the innate immune system, larger studies are now warranted to elucidate the association of TLR4 variants in AS.											
154445		bacteremia	INFECTION	INF	Bacteremia|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Yoon, H. J.  et al. 2006	17179672				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Korean	Korea	CDC GDP info	7099	Hs.174312			J Korean Med Sci    2006    21(6)    979-82	Lack of Toll-like Receptor 4 and 2 Polymorphisms in Korean Patients with Bacteremia		603030		CDC	2006												
154446	N	inflammatory bowel disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Riis, L.  et al. 2007	17206636				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	European;Scandinavian		CDC GDP info	7099	Hs.174312			Inflamm Bowel Dis    2007    13(1)    24-32	The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients		603030		CDC	2007	The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD.											
154447	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Devlin, S. M.  et al. 2006	17258734				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Gastroenterology    2006	NOD2 Variants and Antibody Response to Microbial Antigens in Crohn's Disease Patients and Their Unaffected Relatives		603030		CDC	2006	Patients with Crohn\s disease and unaffected relatives carrying variants of the NOD2 gene have increased adaptive immune responses to microbial antigens.											
154449		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Cheng, I.  et al. 2007	17301271				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Cancer Epidemiol Biomarkers Prev    2007    16(2)    352-5	Toll-like receptor 4 genetic variation and advanced prostate cancer risk		603030		CDC	2007												
154451	Y	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		James, J. A.  et al. 2007	17309585				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian;European	Great Britain	CDC GDP info	7099	Hs.174312			J Clin Periodontol    2007    34(2)    111-7	Polymorphisms of TLR4 but not CD14 are associated with a decreased risk of aggressive periodontitis		603030		CDC	2007	It is concluded that in West European Caucasians, the Asp299Gly TLR4 gene polymorphism is associated with a decreased risk of AgP but not CP.											
154452	N	duodenal ulcer gastritis	INFECTION	INF	Helicobacter Infections|Gastritis|Duodenal Ulcer|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Hofner, P.  et al. 2007	17309748				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Helicobacter    2007    12(2)    124-31	Genetic Polymorphisms of NOD1 and IL-8, but not Polymorphisms of TLR4 Genes, Are Associated with Helicobacter pylori-Induced Duodenal Ulcer and Gastritis		603030		CDC	2007	E266K CARD4/NOD1, but not the TLR4 gene polymorphism increases the risk of peptic ulceration in H. pylori-positive patients. The -251 IL-8 polymorphism was significantly associated with either gastritis or DU in H. pylori-infected subjects. Host factors including intracellular pathogen receptors and IL-8 production play an important role in H. pylori-induced											
154453		bacterermia malaria, plasmodium falciparum pneumonia tuberculosis	INFECTION	INF	Bacteremia|Tuberculosis|Pneumococcal Infections|Malaria|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Khor, C. C.  et al. 2007	17322885				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Nat Genet    2007	A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis		603030		CDC	2007												
154454	Y	esophageal cancer noncardia gastric carcinoma stomach cancer	CANCER	CAN	Helicobacter Infections|Carcinoma|Stomach Neoplasms|Precancerous Conditions|Gastritis, Atrophic|Achlorhydria|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Hold, G. L.  et al. 2006	17324405	TLR4+896A>G			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian		CDC GDP info	7099	Hs.174312			Gastroenterology    2006	A Functional Polymorphism of Toll-Like Receptor 4 Gene Increases Risk of Gastric Carcinoma and Its Precursors		603030		CDC	2006	Our data suggest that the TLR4+896A>G polymorphism is a risk factor for noncardia gastric carcinoma and its precursors. The findings underscore the role of the host innate immune response in outcome of H pylori infection.											
154455	N	C-reactive protein intima-media thickness	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Obesity|Diabetes Complications|Genetic Predisposition to Disease|Inflammation	9	9q32-q33	TLR4	119506430	119519587		Labrum, R.  et al. 2007	17332447				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2		Great Britain	CDC GDP info	7099	Hs.174312			Stroke    2007	Toll Receptor Polymorphisms and Carotid Artery Intima-Media Thickness		603030		CDC	2007	In this large community population, we found no evidence for genetic variation in these two TLRs being risk factors for increased IMT either directly or through interaction with proinflammatory risk factors.		body mass c-reacitve protein diabetes smoking (tobacco)									
154457	N	kidney transplant	RENAL	REN		9	9q32-q33	TLR4	119506430	119519587		Nogueira, E.  et al. 2007	17362744				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Transplant Proc    2007    39(2)    412-414	Incidence of Donor and Recipient Toll-Like Receptor-4 Polymorphisms in Kidney Transplantation		603030		CDC	2007	The incidence of polymorphism in this study was similar in both groups, and donor or recipient polymorphisms were not associated with different renal graft outcomes.											
154458		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Mockenhaupt, F. P.  et al. 2006	17373355				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian		CDC GDP info	7099	Hs.174312			J Commun Dis    2006    38(3)    230-45	Toll-like receptor (TLR) polymorphisms in African children		603030		CDC	2006												
154459	N	bone density osteopenia osteoporosis	METABOLIC	MET		9	9q32-q33	TLR4	119506430	119519587		Santos, J. L.  et al. 2006	17381056				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann Hum Biol    2006    33(5-6)    585-92	Adiposity and bone mineral density of Chilean elderly women in relation to toll-like receptor 4 gene polymorphisms		603030		CDC	2006	It is unlikely that TLR4 Asp299Gly, TLR4 Thr399Ile or TNF -308G>A polymorphisms have a major influence on adiposity, bone mineral density or osteoporosis status in Chilean elderly women.											
154460	Y	pancreatic necrosis pancreatitis, acute	INFECTION	INF	Bacterial Infections|Pancreatitis|Necrosis	9	9q32-q33	TLR4	119506430	119519587		Gao, H. K.  et al. 2007	17414051	Toll-like receptor 4 Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Pancreas    2007    34(3)    295-8	Toll-like receptor 4 Asp299Gly polymorphism is associated with an increased risk of pancreatic necrotic infection in acute pancreatitis		603030		CDC	2007	Toll-like receptor 4 Asp299Gly polymorphism is associated with$$$ the infection of pancreatic necrosis in AP. Patients who carried TLR4 896A>G mutation is susceptible to pancreatic gram-negative bacteria infection.											
154461		Crohn's disease	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	9	9q32-q33	TLR4	119506430	119519587		Papp, M.  et al. 2007	17417801				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	European		CDC GDP info	7099	Hs.174312			Inflamm Bowel Dis    2007	Seroreactivity to microbial components in Crohn's disease is associated with ileal involvement, noninflammatory disease behavior and NOD2/CARD15 genotype, but not with risk for surgery in a Hungarian cohort of IBD patients		603030		CDC	2007	Serological markers were useful in the differentiation between CD and UC in an Eastern European IBD cohort.											
154462		periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	9	9q32-q33	TLR4	119506430	119519587		Tervonen, T.  et al. 2007	17448042				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		603030		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
154463	N	respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Paulus, S. C.  et al. 2007	17449325				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Clin Immunol    2007	Common human Toll-like receptor 4 polymorphisms-Role in susceptibility to respiratory syncytial virus infection and functional immunological relevance		603030		CDC	2007	the Asp299Gly TLR4 polymorphism does not alter receptor function and does not influence the risk of severe RSV infection.											
154465	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		de Ridder, L.  et al. 2007	17476680				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Inflamm Bowel Dis    2007	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease		603030		CDC	2007	Polymorphisms 3020insC in CARD15 and SNP rs3792876 in SLC22A4/5 occurred statistically significantly more often in patients with pediatric-onset CD than in patients with adult-onset CD. Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort.(Inflamm Bowel Dis 2007).											
154466			NORMALVARIATION	NV		9	9q32-q33	TLR4	119506430	119519587		Carvalho, A.  et al. 2007	17482427				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Portuguese		CDC GDP info	7099	Hs.174312			Mol Cell Probes    2007	Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes		603030		CDC	2007												
154467		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9q32-q33	TLR4	119506430	119519587		Nebel, A.  et al. 2007	17493663				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	German;Italian		CDC GDP info	7099	Hs.174312			Mech Ageing Dev    2007	Role of the toll-like receptor 4 polymorphism Asp299Gly in longevity and myocardial infarction in German men		603030		CDC	2007												
154468		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		De Jager, P. L.  et al. 2007	17538633				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Genes Immun    2007	The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases		603030		CDC	2007												
154470	N	periodontitis	IMMUNE	IMM	Gingival Hemorrhage|Periodontitis|Dental Plaque|Chronic Disease	9	9q32-q33	TLR4	119506430	119519587		Berdeli, A.  et al. 2007	17555409				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Turkish		CDC GDP info	7099	Hs.174312			J Clin Periodontol    2007    34(7)    551-7	TLR2 Arg753Gly, TLR4 Asp299Gly and Thr399Ile gene polymorphisms are not associated with chronic periodontitis in a Turkish population		603030		CDC	2007	These results showed that the TLR2 and TLR4 gene polymorphisms studied are not associated with susceptibility to CP in Turkish patients.											
154471	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Izakovicova Holla, L.  et al. 2007	17559631				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Periodontal Res    2007    42(4)    340-4	Lack of association between chronic periodontitis and the Toll-like receptor 4 gene polymorphisms in a Czech population		603030		CDC	2007	In conclusion, TLR4 gene polymorphisms were not significantly associated with the susceptibility to, or severity of, chronic periodontitis in our population.											
154473	N	atherosclerosis, aortic	CARDIOVASCULAR	CARD	Aortic Diseases|Arteriosclerosis|Hypertension|Acute Disease|Disease Progression	9	9q32-q33	TLR4	119506430	119519587		Hommels, M. J.  et al. 2007	17587646				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Neth J Med    2007    65(6)    203-7	The Asp299Gly Toll-like receptor 4 polymorphism in advanced aortic atherosclerosis		603030		CDC	2007												
154474		infection, postoperative	INFECTION	INF	Bacterial Infections|Esophageal Neoplasms|Postoperative Complications	9	9q32-q33	TLR4	119506430	119519587		Azim, K.  et al. 2007	17592300				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann Surg    2007    246(1)    122-128	Genetic Polymorphisms and the Risk of Infection Following Esophagectomy. Positive Association with TNF-alpha Gene -308 Genotype		603030		CDC	2007	BACKGROUND DATA: Genetic polymorphisms for immunoregulatory cytokines may explain individual variation in response to trauma.											
154475		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Henckaerts, L. C.  et al. 2007	17595233				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		603030		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
154477		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247		Nieters, A.  et al. 2006	16971956				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3		Germany	CDC GDP info	7100	Hs.135853			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		603031		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
154478	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247		Demirci, F. Y.  et al. 2007	17516623				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3	Caucasian		CDC GDP info	7100	Hs.135853			J Rheumatol    2007	Association Study of Toll-like Receptor 5 (TLR5) and Toll-like Receptor 9 (TLR9) Polymorphisms in Systemic Lupus Erythematosus		603031		CDC	2007	Our results do not indicate a major influence of these putative functional TLR SNP on the susceptibility to (or protection from) SLE.											
154479	Y	aspergillosis	INFECTION	INF	Aspergillosis|Lung Diseases, Fungal|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555		Kesh, S.  et al. 2005	16461792				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDP info	10333	Hs.366986			Ann N Y Acad Sci    2005    1062    95-103	TLR1 and TLR6 Polymorphisms Are Associated with Susceptibility to Invasive Aspergillosis after Allogeneic Stem Cell Transplantation		605403		CDC	2005												
154480		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555			16537705				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807		Sweden	CDC GDP info	10333	Hs.366986			Cancer Epidemiol Biomarkers Prev    2006    15(3)    480-5	Interactions of sequence variants in interleukin-1 receptor-associated kinase4 and the toll-like receptor 6-1-10 gene cluster increase prostate cancer risk		605403		CDC	2006												
154482		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	X	Xp22.3	TLR7	12795122	12818401		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF240467			CDC GDP info	51284	Hs.659215			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection				CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154483	Y	fibrosis hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	X	Xp22.3	TLR7	12795122	12818401		Schott, E.  et al. 2007	17512627	TLR7 1-120G	protective		Toll-like receptor 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF240467			CDC GDP info	51284	Hs.659215	protective		J Hepatol    2007	A Toll-like receptor 7 single nucleotide polymorphism protects from advanced inflammation and fibrosis in male patients with chronic HCV-infection				CDC	2007	This is the first analysis of TLR7 SNPs in patients with chronic HCV-infection. Our data suggest that the c.1-120G TLR7 allele offers protection from the development of inflammation and fibrosis in male patients with chronic HCV-infection.											
154484		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	X	Xp22	TLR8	12834678	12851209		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138636			CDC GDP info	51311	Hs.660543			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection				CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154486	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		De Jager, P. L.  et al. 2006	16575840				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			Arthritis Rheum    2006    54(4)    1279-1282	Genetic variation in toll-like receptor 9 and susceptibility to systemic lupus erythematosus		605474		CDC	2006	These results indicate that there is no evidence that common (frequency higher than 5%) alleles of the TLR-9 gene contribute significantly to the genetic risk involved in susceptibility to SLE or lupus nephritis.											
154487		sarcoidosis tuberculosis	IMMUNE	IMM	Mycobacterium Infections, Atypical|Lung Diseases|Sarcoidosis, Pulmonary|Pneumonia|Tuberculosis, Pulmonary|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Lee, P. L.  et al. 2006	16608528				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2		California	CDC GDP info	54106	Hs.87968			J Negat Results Biomed    2006    5(1)    5	Genetic polymorphisms and susceptibility to lung disease		605474		CDC	2006												
154488	Y	malaria	HEMATOLOGICAL	HEM	Pregnancy Complications, Parasitic|Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Mockenhaupt, F. P.  et al. 2006	16779724				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			J Infect Dis    2006    194(2)    184-8	Common polymorphisms of toll-like receptors 4 and 9 are associated with the clinical manifestation of malaria during pregnancy		605474		CDC	2006												
154489		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Nieters, A.  et al. 2006	16971956				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2		Germany	CDC GDP info	54106	Hs.87968			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		605474		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
154492	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Tao, K.  et al. 2007	17344245	TLR9  G allele at position +1174			Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			Ann Rheum Dis    2007	Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population		605474		CDC	2007	These results indicate that the presence of the G allele at position +1174 of TLR9 predisposes humans to an increased risk of SLE. It is speculated that TLR9 normally prevents the development of human SLE.											
154493		malaria, plasmodium falciparum	INFECTION	INF	Malaria, Falciparum|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Mockenhaupt, F. P.  et al. 2006	17373355				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Caucasian		CDC GDP info	54106	Hs.87968			J Commun Dis    2006    38(3)    230-45	Toll-like receptor (TLR) polymorphisms in African children		605474		CDC	2006												
154494	P		NORMALVARIATION	NV		3	3p21.3	TLR9	52230137	52248223		Carvalho, A.  et al. 2007	17482427				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Portuguese		CDC GDP info	54106	Hs.87968			Mol Cell Probes    2007	Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes		605474		CDC	2007												
154496	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Novak, N.  et al. 2007	17573724			promoter	Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			Allergy    2007    62(7)    766-72	Putative association of a TLR9 promoter polymorphism with atopic eczema		605474		CDC	2007	These observations suggest that the TLR9 promoter polymorphism C-1237T might affect AE susceptibility in particular in patients with the intrinsic variant of AE.											
154497		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness	9	9q21.12	TMC1	74326536	74641087		Meyer, C. G.  et al. 2005	15605408			splice	Transmembrane channel-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF417578			CDC GDP info	117531	Hs.670211			Hum Mutat    2005    25(1)    100	Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree		606706		CDC	2005												
154498	N	epidermodysplasia verruciformis	OTHER	OTH	Papillomavirus Infections|Papilloma|Respiratory Tract Neoplasms|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	17	17q25.3	TMC6	73620593	73640083		Donfack, J.  et al. 2006	16487602				Transmembrane channel-like 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK074065			CDC GDP info	11322	Hs.632227			Int J Pediatr Otorhinolaryngol    2006	Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP				CDC	2006	The absence of these mutations in RRP patients might indicate that EVER 1 alleles are not associated with susceptibility to RRP, or that other, as yet unidentified, mutations in the Epidermodysplasia verruciformis 1 gene, might account for the susceptibility to RRP.											
154499		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q12.3	TMPRSS6	35791424	35835549			16533768				Transmembrane protease, serine 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153609	Finnish	Finland	CDC GDP info	164656	Hs.370885			Clin Cancer Res    2006    12(5)    1454-62	Refinement of the 22q12-q13 breast cancer--associated region		609862		CDC	2006												
154500		arthritis, rheumatoid Sjogren's syndrome	IMMUNE	IMM	Arthritis, Rheumatoid|Sjogren's Syndrome	6	6p21.3	TNF	31651328	31654091		Kacem, H. H.  et al. 2001	11752507				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Tunisian		CDC GDP info	7124	Hs.241570			Rheumatology (Oxford)    2001    40    1370-4	HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sj?gren's syndrome.		191160		CDC	2001	These data suggest the involvement of HLA-DQ CAR1/CAR2 polymorphisms in genetic susceptibility to RA and SS and the participation of the CTLA-4 gene, or a gene closely associated with it, in the development of RA.											
154501			NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Hamajima, N.  et al. 2002	12164325				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		191160		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
154502	P		NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Hamajima, N.  et al. 2002	12718576				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	7124	Hs.241570			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		191160		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
154503			NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese;Korean;Asian		CDC GDP info	7124	Hs.241570			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		191160		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154506	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	6	6p21.3	TNF	31651328	31654091			16403098				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		191160		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
154507		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	6	6p21.3	TNF	31651328	31654091		Kamangar, F.  et al. 2006	16411061				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Finnish	Finland	CDC GDP info	7124	Hs.241570			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		191160		CDC	2006												
154508	N	aging	AGING	AGE		6	6p21.3	TNF	31651328	31654091			16424284			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		191160		CDC	2005												
154510	Y	lung function	OTHER	OTH	Respiratory Tract Diseases	6	6p21.3	TNF	31651328	31654091			16429233				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Hum Genet    2006	Association of IL8, CXCR2 and TNF-alpha polymorphisms and airway disease		191160		CDC	2006												
154511	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Daher, S.  et al. 2006	16433832				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Am J Reprod Immunol    2006    55(2)    130-5	Cytokine genotyping in preeclampsia		191160		CDC	2006	Our study suggests that PE is associated with IL-10-(1082) polymorphism but not with TNF-(308) polymorphism. On the basis of meta-analysis, we confirm the need for more studies for the evaluation of cytokine genotype in disease.											
154512		sepsis	INFECTION	INF	Sepsis	6	6p21.3	TNF	31651328	31654091		Sipahi, T.  et al. 2006	16444434				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		191160		CDC	2006												
154513	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16520888				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		191160		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
154515		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16538176				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		191160		CDC	2006												
154516	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16538639				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		191160		CDC	2006												
154517	N	anemia C-reactive protein	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic|Anemia	6	6p21.3	TNF	31651328	31654091			16538877				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Perit Dial Int    2006    26(1)    64-8	The effect of proinflammatory cytokine gene and angiotensin-converting enzyme polymorphisms on erythropoietin requirements in patients on continuous ambulatory peritoneal dialysis		191160		CDC	2006	ACE insertion/deletion polymorphism may determine rHuEPO responsiveness in CAPD patients and should be considered in relative rHuEPO resistance.		erythropoietin									
154518		celiac disease	IMMUNE	IMM	Celiac Disease	6	6p21.3	TNF	31651328	31654091			16540751				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Italy	CDC GDP info	7124	Hs.241570			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		191160		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
154519	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Sumnik, Z.  et al. 2006	16567828				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	European		CDC GDP info	7124	Hs.241570			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		191160		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
154520		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	6	6p21.3	TNF	31651328	31654091		Brogger, J.  et al. 2006	16585076				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		CDC GDP info	7124	Hs.241570			Eur Respir J    2006    27(4)    682-8	Genetic association between COPD and polymorphisms in TNF, ADRB2 and EPHX1		191160		CDC	2006	the present data and meta-analysis support a role for microsomal epoxide hydroxylase in the aetiology of chronic obstructive pulmonary disease.											
154521		pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091		Duell, E. J.  et al. 2006	16614115				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		San Francisco	CDC GDP info	7124	Hs.241570			Cancer Epidemiol Biomarkers Prev    2006    15(4)    726-31	Inflammation, Genetic Polymorphisms in Proinflammatory Genes TNF-A, RANTES, and CCR5, and Risk of Pancreatic Adenocarcinoma		191160		CDC	2006			smoking (tobacco)									
154523		SARS (severe acute respiratory syndrome)	INFECTION	INF	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chong, W. P.  et al. 2006	16672072				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			BMC Infect Dis    2006    6(1)    82	The interferon gamma gene polymorphism +874 A/T is associated with severe acute respiratory syndrome		191160		CDC	2006	IFN-gamma +874A allele was shown to be a risk factor in SARS susceptibility.											
154524	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chang, Y. T.  et al. 2006	16681592				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		191160		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
154525	Y	hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	TNF	31651328	31654091		Bettens, F.  et al. 2006	16699452				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Transplantation    2006    81(9)    1261-1267	Association of TNFd and IL-10 Polymorphisms with Mortality in Unrelated Hematopoietic Stem Cell Transplantation		191160		CDC	2006	The data demonstrate a significant correlation of the TNFd and IL-10-1064 microsatellite polymorphisms with mortality after unrelated HSCT. They support the hypothesis that simple genomic tests, in addition to precise HLA matching, may contribute to determine prognosis in patients undergoing unrelated HSCT.											
154526	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Brown, E. E.  et al. 2006	16702372				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian	Italy	CDC GDP info	7124	Hs.241570			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		191160		CDC	2006												
154529		heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	6	6p21.3	TNF	31651328	31654091		Tambur, A. R.  et al. 2006	16730575				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		191160		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
154530	P		NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Bagheri, M.  et al. 2006	16734562				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	7124	Hs.241570			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		191160		CDC	2006												
154531	Y	stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Intracranial Hemorrhages|Atherosclerosis|Thrombosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Yamada, Y.  et al. 2006	16741147	TNF -863C-->A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570	subarachnoid hemorrhage		Arterioscler Thromb Vasc Biol    2006	Genetic Risk for Ischemic and Hemorrhagic Stroke		191160		CDC	2006	IL6 genotype may be useful in assessing the genetic risk for atherothrombotic cerebral infarction and intracerebral hemorrhage, and genotypes for UCP3, TNF, and PKD1-like may be similarly beneficial in assessment of the risk for subarachnoid hemorrhage. Validation of our findings will require additional studies with independent subject panels.											
154532		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Carlo-Stella, N.  et al. 2006	16762155				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		CDC GDP info	7124	Hs.241570			Clin Exp Rheumatol    2006    24(2)    179-82	A first study of cytokine genomic polymorphisms in CFS		191160		CDC	2006	We hypothesize that CFS patients can have a genetic predisposition to an immunomodulatory response of an inflammatory nature probably secondary to one or more environmental insults of unknown nature.											
154533	P		NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Bagheri, M.  et al. 2006	16764598				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Iranian;Asian	Iran	CDC GDP info	7124	Hs.241570			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		191160		CDC	2006												
154534		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenomatous Polyps|Colorectal Neoplasms|Colonic Polyps|Inflammation	6	6p21.3	TNF	31651328	31654091		Gunter, M. J.  et al. 2006	16775170				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1126-31	Inflammation-related gene polymorphisms and colorectal adenoma		191160		CDC	2006			nonsteroidal anti-inflammatory (NSAID)									
154536		asthma juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Asthma	6	6p21.3	TNF	31651328	31654091		Schubert, K.  et al. 2006	16788246				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Dis Markers    2006    22(3)    127-32	A comprehensive candidate gene study on bronchial asthma and juvenile idiopathic arthritis		191160		CDC	2006												
154537		longevity	AGING	AGE	Inflammation	6	6p21.3	TNF	31651328	31654091		Capri, M.  et al. 2006	16803995				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		191160		CDC	2006												
154539	N	H. pylori infection	PHARMACOGENOMIC	PHARM	Gastritis|Stomach Ulcer	6	6p21.3	TNF	31651328	31654091		Sugimoto, M.  et al. 2006	16815316				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Pharmacol Ther    2006    80(1)    41-50	Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy		191160		CDC	2006	IL1B -511 polymorphism, but not IL1RN, TNFA, or IL10 polymorphism, is one of the determinants of triple therapy for clarithromycin-sensitive strains of H pylori in CYP2C19 homozygous EMs.		amoxycillin clarithromycin lansoprazole omeprazole rabeprazole									
154541	N	stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms|Genetic Predisposition to Disease|Genomic Instability	6	6p21.3	TNF	31651328	31654091		Shirai, K.  et al. 2006	16824064				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Gastroenterol Hepatol    2006    21(7)    1129-35	Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instability		191160		CDC	2006	Our study shows that MSI-H GC is associated with IL-8-251 T/T (low expression genotype) and is inversely correlated with cigarette smoking.		smoking (tobacco)									
154542		lymphoproliferative disorders, post-transplant	CANCER	CAN	Epstein-Barr Virus Infections|Lymphoproliferative Disorders|Postoperative Complications	6	6p21.3	TNF	31651328	31654091		Lee, T. C.  et al. 2006	16824159				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Transplant    2006    20(3)    389-93	Use of cytokine polymorphisms and Epstein-Barr virus viral load to predict development of post-transplant lymphoproliferative disorder in paediatric liver transplant recipients		191160		CDC	2006			Epstein-Barr virus									
154543		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Favorova, O. O.  et al. 2006	16872485				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Russian		CDC GDP info	7124	Hs.241570			BMC Med Genet    2006    7(1)    63	Three Allele Combinations Associated with Multiple Sclerosis		191160		CDC	2006	These results represent an independent validation of MS association with DRB1*15(2) and TNFa9 in Russians and are the first to find the interplay of three loci in conferring susceptibility to MS. They demonstrate the efficacy of our approach for the identification of complex-disease-associated combinations of alleles.											
154544		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Granados, J.  et al. 2006	16875346				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian;Mexican		CDC GDP info	7124	Hs.241570			Gac Med Mex    2006    142(3)    195-9	Influence of alleles and haplotypes of the main histocompatibility complex on the susceptibility to systemic lupus erythematosus in the Mexican population		191160		CDC	2006												
154546		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Hou, L.  et al. 2006	16885196				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Carcinogenesis    2006	Polymorphisms in Th1-type cell-mediated response genes and risk of gastric cancer		191160		CDC	2006												
154547		nasal polyposis	OTHER	OTH	Nasal Polyps|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Fajardo-Dolci, G.  et al. 2006	16890076				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Otolaryngol Head Neck Surg    2006    135(2)    243-7	DQA1 and DQB1 association and nasal polyposis		191160		CDC	2006	HLA-DQA1*0201-DQB1*0201 haplotype is involved in susceptibility, conferring 5.53 times more risk of developing this disease. EBM rating: B-2b.											
154549		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Inflammation	6	6p21.3	TNF	31651328	31654091		Theodoropoulos, G.  et al. 2006	16937502				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Greek		CDC GDP info	7124	Hs.241570			World J Gastroenterol    2006    12(31)    5037-43	Relation between common polymorphisms in genes related to inflammatory response and colorectal cancer		191160		CDC	2006	The association between common SNPs in immunologic response-related genes and CRC is reported in the present study. Apart from shedding light on the mechanisms of malignancy initiation and progression, SNPs may improve appropriate screening for sub-populations at risk.											
154550		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	6	6p21.3	TNF	31651328	31654091		Basturk, B.  et al. 2006	16938461				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		191160		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
154551		leishmaniasis, cutaneous	INFECTION	INF	Leishmaniasis, Cutaneous|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kamali-Sarvestani, E.  et al. 2006	16950634				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Iranian		CDC GDP info	7124	Hs.241570			Cytokine    2006	Cytokine gene polymorphisms and susceptibility to cutaneous leishmaniasis in Iranian patients		191160		CDC	2006	our results suggest that functional genetic variants in the IL-4 promoter could influence the risk of developing CL while the polymorphism in the first intron of the IFN-gamma gene might influence the progression of disease towards CCL.											
154552	N	atherosclerosis, coronary carotid artery damage	CARDIOVASCULAR	CARD	Carotid Stenosis|Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Giacconi, R.  et al. 2006	16953332	-308 TNF-alpha			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Biogerontology    2006	Involvement of -308 TNF-alpha and 1267 Hsp70-2 polymorphisms and zinc status in the susceptibility of coronary artery disease (CAD) in old patients		191160		CDC	2006	1267 HSP70-2 polymorphism and zinc deficiency, rather than -308 TNF-alpha, are independently associated with CAD. B + A+ and B + A- carriers seem more predisposed to ischaemic events; conversely, B - A- genotype may be considered a protective marker against CAD.											
154553	N	H. pylori infection	INFECTION	INF	Helicobacter Infections	6	6p21.3	TNF	31651328	31654091		Tseng, F. C.  et al. 2006	16961803				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Helicobacter    2006    11(5)    425-30	Polymorphisms in Cytokine Genes and Risk of Helicobacter pylori Infection among Jamaican Children		191160		CDC	2006	The IL1A-889 T allele, known to express a higher level of cytokine IL-1alpha, is associated with$$$ a lower risk of H. pylori infection among Jamaican children. Our finding supports the hypothesis that an upregulation of pro-inflammatory cytokines may protect against persistent H. pylori colonization.											
154554	N	tuberculosis	INFECTION	INF	Tuberculosis	6	6p21.3	TNF	31651328	31654091		Oral, H. B.  et al. 2006	16962335				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Turkish		CDC GDP info	7124	Hs.241570			Cytokine    2006	Interleukin-10 (IL-10) gene polymorphism as a potential host susceptibility factor in tuberculosis		191160		CDC	2006												
154557		asthma Chlamydophila pneumoniae infection	INFECTION	INF	Chlamydophila Infections|Asthma|Disease Susceptibility	6	6p21.3	TNF	31651328	31654091		Tolgyesi, G.  et al. 2006	16988194			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Pediatr Res    2006	Involvement of TNF{alpha} -308A Promoter Polymorphism in the Development of Asthma in Children Infected with Chlamydophila pneumoniae		191160		CDC	2006			C. pneumoniae									
154558	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease	6	6p21.3	TNF	31651328	31654091		Manresa, J. M.  et al. 2006	17001213	TNF-alpha-G-308A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Eur J Cardiovasc Prev Rehabil    2006    13(5)    738-744	Relationship of classical and non-classical risk factors with genetic variants relevant to coronary heart disease		191160		CDC	2006	Three of the genetic variants analysed, PPAR-alpha-L162V, LPL-HindIII, and TNF-alpha-G-308A, were associated with non-classical risk factors, specifically lipid profile, inflammation, and oxidative status.		cardiovascular risk factors									
154559		H. pylori infection	INFECTION	INF		6	6p21.3	TNF	31651328	31654091		Ishida, Y.  et al. 2006	17003844				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Int J Med Sci    2006    3(4)    135-40	Eradication rate of Helicobacter pylori according to genotypes of CYP2C19, IL-1B, and TNF-A		191160		CDC	2006	The present study confirmed the low eradication rate for RM.											
154560	Y	asthma, aspirin-intolerant	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kim, S. H.  et al. 2006	17014432				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Exp Allergy    2006    36(10)    1247-53	Association of TNF-alpha genetic polymorphism with HLA DPB1(*)0301		191160		CDC	2006	TNF-alpha promoter polymorphism may significantly increase susceptibility to AIA by gene-to-gene interaction with HLA DPB1*0301.											
154562		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Inflammation	6	6p21.3	TNF	31651328	31654091		Wang, S. S.  et al. 2006	17018637				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Cancer Res    2006    66(19)    9771-80	Common genetic variants in proinflammatory and other immunoregulatory genes and risk for non-hodgkin lymphoma		191160		CDC	2006	common variants in genes influencing proinflammatory and innate immune responses were associated with non-Hodgkin lymphoma risk overall and their effects could vary by subtype. Our results require replication but potentially provide important clues for investigating common genetic variants as susceptibility factors and in disease outcomes, treatment responses, and immunotherapy targets. (Cancer Res 2006; 66(19): 9771-80).											
154563		insulin obesity	METABOLIC	MET	Insulin Resistance|Obesity	6	6p21.3	TNF	31651328	31654091		Pyrzak, B.  et al. 2006	17020651				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw    2006    12(3)    175-8	The influence of polymorphism the Gly972Arg variant insulin receptor substrate-1 (IRS-1) gene, and G-308A TNF-a gene on obesity and insulin resistance in children with obesity.		191160		CDC	2006												
154565	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Deja, G.  et al. 2006	17047287				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Mediators Inflamm    2006    2006(4)    19724	Is the Association Between TNF-alpha-308 A Allele and DMT1 Independent of HLA-DRB1, DQB1 Alleles?		191160		CDC	2006												
154566	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease|Inflammation	6	6p21.3	TNF	31651328	31654091		Landi, S.  et al. 2006	17062130				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Negat Results Biomed    2006    5    15	Polymorphisms within inflammatory genes and colorectal cancer		191160		CDC	2006	The lack of association may show that the inflammatory genes selected for this study are not involved in the carcinogenic process of colorectum.											
154567	N	bronchiolitis obliterans syndrome	UNKNOWN	UNK	Bronchiolitis Obliterans|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Snyder, L. D.  et al. 2006	17097497				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Heart Lung Transplant    2006    25(11)    1330-5	Cytokine gene polymorphisms are not associated with bronchiolitis obliterans syndrome or survival after lung transplant		191160		CDC	2006	Polymorphisms of TNF-alpha, IFN-gamma, TGF-beta1, IL-10 and IL-6 do not appear to influence the onset of BOS or graft survival in recipients.											
154569		inflammatory markers	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Jang, Y.  et al. 2006	17113059				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Korean		CDC GDP info	7124	Hs.241570			Clin Chim Acta    2006	Effect of the 252A>G polymorphism of the lymphotoxin-alpha gene on inflammatory markers of response to cigarette smoking in Korean healthy men		191160		CDC	2006	Our results suggest that the LTA 252A>G polymorphism may modulate the inflammatory effects and oxidative stress of smoking. The detrimental effect of smoking is most clearly seen in men with G/G, suggesting a genotype-specific interaction with smoking.		smoking (tobacco)									
154570	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	6	6p21.3	TNF	31651328	31654091		Pieroni, F.  et al. 2006	17113632				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		191160		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
154571	N	pancreatitis, autoimmune	IMMUNE	IMM	Pancreatitis|Autoimmune Diseases|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Ota, M.  et al. 2006	17119950				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Immunogenetics    2006	Two critical genes (HLA-DRB1 and ABCF1)in the HLA region are associated with the susceptibility to autoimmune pancreatitis		191160		CDC	2006												
154573		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Rassi, D. M.  et al. 2006	17130569				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Brazilian	Brazil	CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1079    300-4	TNFa-e Microsatellite, HLA-DRB1 and -DQB1 Alleles and Haplotypes in Brazilian Patients Presenting Recently Diagnosed Type 1 Diabetes Mellitus		191160		CDC	2006												
154574	Y	kidney transplant	RENAL	REN		6	6p21.3	TNF	31651328	31654091		Gendzekhadze, K.  et al. 2006	17138053	TNF-alpha -308			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		191160		CDC	2006												
154575	Y	preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	6	6p21.3	TNF	31651328	31654091		Speer, E. M.  et al. 2006	17145371				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Hum Immunol    2006    67(11)    915-23	Role of single nucleotide polymorphisms of cytokine genes in spontaneous preterm delivery		191160		CDC	2006												
154576	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	TNF	31651328	31654091		Dong, Y.  et al. 2006	17160953				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    677-9	Association among serous and cerebrospinal fluid TNF-alpha level, gene polymorphisms of TNF-alpha and multiple sclerosis in Han nationality of southern China.		191160		CDC	2006												
154578	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	6	6p21.3	TNF	31651328	31654091		Willer, C. J.  et al. 2007	17192490				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Diabetes    2007    56(1)    256-64	Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes		191160		CDC	2007												
154579		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Bertram, L.  et al. 2007	17192785				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		191160		CDC	2007	odds ratios (ranging from 1.											
154580	Y	asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity	6	6p21.3	TNF	31651328	31654091		Hong, S. J.  et al. 2006	17196641				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Korean		CDC GDP info	7124	Hs.241570			J Allergy Clin Immunol    2006	TNF-alpha (-308 G/A) and CD14 (-159T/C) polymorphisms in the bronchial responsiveness of Korean children with asthma		191160		CDC	2006	The TNF-alpha promoter polymorphism (-308G/A) might be associated with severe BHR in Korean children with asthma. In addition, these children show a synergistic effect between the TNF-alpha promoter (-308A) and CD14 promoter (-159C) polymorphisms in terms of BHR. CLINICAL IMPLICATIONS: The TNF-alpha polymorphism might be a disease-modifying gene in asthma an											
154581		heart transplant	CARDIOVASCULAR	CARD		6	6p21.3	TNF	31651328	31654091		Girnita, D. M.  et al. 2006	17198275				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Hispanic Caucasian		CDC GDP info	7124	Hs.241570			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		191160		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
154582		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Babel, N.  et al. 2006	17209781				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Periodontol    2006    77(12)    1978-1983	Analysis of Tumor Necrosis Factor-alpha, Transforming Growth Factor-beta, Interleukin-10, IL-6, and Interferon-gamma Gene Polymorphisms in Patients With Chronic Periodontitis		191160		CDC	2006	The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.											
154583	Y	testicular cancer	CANCER	CAN	Seminoma|Testicular Neoplasms	6	6p21.3	TNF	31651328	31654091		Purdue, M. P.  et al. 2007	17220333				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Hispanic Caucasian;non-Hispanic	United States	CDC GDP info	7124	Hs.241570			Cancer Epidemiol Biomarkers Prev    2007    16(1)    77-83	A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors		191160		CDC	2007	our findings suggest that polymorphisms in TGFB1 and LTA/TNF, and possibly other immune function genes, may influence susceptibility to TGCT.											
154584		silicosis tuberculosis	INFECTION	INF		6	6p21.3	TNF	31651328	31654091		Qu, Y.  et al. 2007	17223386				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Int J Hyg Environ Health    2007	Genetic polymorphisms in alveolar macrophage response-related genes, and risk of silicosis and pulmonary tuberculosis in Chinese iron miners		191160		CDC	2007	the C>T mutation of iNOS Ser608Leu may be an important protective factor to miners. On the other hand, the variant NRAMP1 INT4 may play a role in the development of PTB in Chinese miners. Therefore, the novel information can be used as guideline for further mechanistic investigations and for strengthening specific protection protocols for workers.		dust exposure									
154585	N	kidney transplant	RENAL	REN		6	6p21.3	TNF	31651328	31654091		Azarpira, N.  et al. 2006	17238853				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Exp Clin Transplant    2006    4(2)    528-31	Cytokine gene polymorphisms in renal transplant recipients		191160		CDC	2006	Our results demonstrate that cytokine gene polymorphisms did not influence the early outcome of kidney transplantation.											
154587	P		NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Kaur, G.  et al. 2007	17257312				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Indian		CDC GDP info	7124	Hs.241570			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		191160		CDC	2007												
154588		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Scola, L.  et al. 2006	17261759				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1089    104-109	Cytokine Gene Polymorphisms and Breast Cancer Susceptibility		191160		CDC	2006	further studies involving larger numbers of subjects are required.											
154589	N	Fuchs heterochromic cyclitis	IMMUNE	IMM	Iridocyclitis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Spriewald, B. M.  et al. 2007	17287608				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ophthalmic Res    2007    39(2)    116-120	A Suggestive Association of Fuchs Heterochromic Cyclitis with Cytotoxic T Cell Antigen 4 Gene Polymorphism		191160		CDC	2007	CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.											
154590		respiratory distress syndrome, neonatal	OTHER	OTH	Respiratory Distress Syndrome, Newborn	6	6p21.3	TNF	31651328	31654091		Capasso, M.  et al. 2007	17314689				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		CDC GDP info	7124	Hs.241570			Pediatr Res    2007    61(3)    313-317	Cytokine Gene Polymorphisms in Italian Preterm Infants		191160		CDC	2007												
154591		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Brown, E. E.  et al. 2007	17315188				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	European		CDC GDP info	7124	Hs.241570			Int J Cancer    2007	Common variants in genes that mediate immunity and risk of multiple myeloma		191160		CDC	2007												
154592		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	6	6p21.3	TNF	31651328	31654091		Watt, A. P.  et al. 2007	17336597			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Cyst Fibros    2007	Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population		191160		CDC	2007												
154593		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Inflammation	6	6p21.3	TNF	31651328	31654091		Sbarsi, I.  et al. 2007	17346438				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Italian		CDC GDP info	7124	Hs.241570			Int J Immunopathol Pharmacol    2007    20(1)    145-54	Inflammation and atherosclerosis		191160		CDC	2007												
154594	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Nakkuntod, J.  et al. 2006	17348243	-863A allele within the promoter region of the TNF-alpha gene,			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Thai		CDC GDP info	7124	Hs.241570			Asian Pac J Allergy Immunol    2006    24(4)    207-11	Association of TNF-alpha, TNF-beta, IFN-gamma and IL-1Ra gene polymorphisms with Graves' disease in the Thai population		191160		CDC	2006												
154595	N	cytokine lung function	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Josyula, A. B.  et al. 2007	17351514				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Occup Environ Med    2007    49(3)    282-288	Cytokine Genotype and Phenotype Effects on Lung Function Decline in Firefighters		191160		CDC	2007	Cytokine genotypes were associated with the rate of FEV1 decline but did not alter concentrations of sputum cytokine.											
154596			CANCER	CAN	Neoplasms|Inflammation	6	6p21.3	TNF	31651328	31654091		Huang, H. Y.  et al. 2007	17355643				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	African American;Caucasian		CDC GDP info	7124	Hs.241570			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		191160		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
154598	P		NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Zhang, W.  et al. 2007	17369174				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		191160		CDC	2007												
154599		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	6	6p21.3	TNF	31651328	31654091		Gidvani, V.  et al. 2007	17373677				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		191160		CDC	2007												
154600		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			17380888				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		191160		CDC	2007												
154602	N	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic	6	6p21.3	TNF	31651328	31654091		Farkas, G. = Jr et al. 2007	17400536				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Eur Cytokine Netw    2007    18(1)    26-32	Relevance of transforming growth factor-beta1, interleukin-8, and tumor necrosis factor-alpha polymorphisms in patients with chronic pancreatitis		191160		CDC	2007	correlations of the TGF-beta1 and IL-8 single nucleotide polymorphisms (SNPs) with chronic pancreatitis underline the importance of these cytokines in the pathomechanism of the disease. Moreover, it seems that the TT genotype of +869 TGF-beta1 might be a risk factor for the development of a severe form of chronic pancreatitis, and could serve as a prognostic sign for any future surgical intervention or even repeat surgery. Further studies on a larger group of patients, in addition to a follow-up study, are necessary to confirm this preliminary observation.											
154603	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Prasad, P.  et al. 2007	17428349				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Japanese;Indian;Asian		CDC GDP info	7124	Hs.241570			BMC Med Genet    2007    8(1)    20	Association of TGFB1, TNFa, CCR2 and CCR5 gene polymorphisms in chronic renal insufficiency among Asian Indians with type-2 diabetes		191160		CDC	2007	Of the various cytokine gene polymorphisms tested, allele 59029A of CCR5 gene is significantly associated with diabetic renal insufficiency among Asian Indians.											
154604	N	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	6	6p21.3	TNF	31651328	31654091		Gallicchio, L.  et al. 2007	17428620				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		CDC GDP info	7124	Hs.241570			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		191160		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
154606		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Seno, H.  et al. 2007	17444864				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		191160		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
154607		periodontal disease	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis	6	6p21.3	TNF	31651328	31654091		Tervonen, T.  et al. 2007	17448042				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Clin Periodontol    2007    34(5)    377-83	Polymorphisms in the CD14 and IL-6 genes associated with periodontal disease		191160		CDC	2007	According to the present results, an evident association exists between the carriage of the T-containing genotype of CD14(-260) and the GG genotype of IL-6(-174) and the extent periodontal disease.											
154608		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Nibali, L.  et al. 2007	17452560				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Dent Res    2007    86(5)    416-20	Gene polymorphisms and the prevalence of key periodontal pathogens		191160		CDC	2007			microbiota									
154609	N	colorectal cancer	CANCER	CAN		6	6p21.3	TNF	31651328	31654091		Talseth, B. A.  et al. 2007	17454884				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		191160		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
154610	Y	C-reactive protein	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Pua Kikuchi, M.  et al. 2007	17477779				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Asian Pac J Cancer Prev    2007    8(1)    87-92	Associations between Serum C-reactive Protein (CRP) Levels and Polymorphisms of CRP, Interleukin 1B, and Tumor Necrosis Factor Genes among Japanese Health Checkup Examinees		191160		CDC	2007												
154612	N	osteosarcoma	CANCER	CAN	Osteosarcoma|Recurrence	6	6p21.3	TNF	31651328	31654091		Oliveira, I. D.  et al. 2007	17483704				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Pediatr Hematol Oncol    2007    29(5)    293-297	TNF-alpha, TNF-beta, IL-6, IL-10, PECAM-1 and the MPO Inflammatory Gene Polymorphisms in Osteosarcoma		191160		CDC	2007												
154613		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	TNF	31651328	31654091		Kumar, R.  et al. 2007	17498265				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Tissue Antigens    2007    69(6)    557-67	Association and interaction of the TNF-alpha gene with other pro- and anti-inflammatory cytokine genes and HLA genes in patients with type 1 diabetes from North India		191160		CDC	2007												
154614		sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic	6	6p21.3	TNF	31651328	31654091		Otieno, F. G.  et al. 2007	17498268				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		CDC GDP info	7124	Hs.241570			Tissue Antigens    2007    69(6)    583-91	Allograft inflammatory factor-1 and tumor necrosis factor single nucleotide polymorphisms in systemic sclerosis		191160		CDC	2007												
154615		perianal disease	OTHER	OTH	Crohn Disease|Anus Diseases	6	6p21.3	TNF	31651328	31654091		Karban, A.  et al. 2007	17509030				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Ashkenazi;Israeli;Jewish		CDC GDP info	7124	Hs.241570			Am J Gastroenterol    2007	Risk Factors for Perianal Crohn's Disease		191160		CDC	2007	The strongest factor associated with PD is rectal inflammation.											
154617		graves' ophthalmopathy	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Bednarczuk, T.  et al. 2007	17521325				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Endocrinol (Oxf)    2007	Susceptibility genes in Graves' ophthalmopathy		191160		CDC	2007												
154618		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Reich, K.  et al. 2007	17530646				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		191160		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
154620	N	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		6	6p21.3	TNF	31651328	31654091		Li, D.  et al. 2007	17568575				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Chim Acta    2007	Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus		191160		CDC	2007	The IL-10 G-1082A and CYP3A5()3 polymorphisms may influence the interindividual variability of tacrolimus pharmacokinetics in Chinese liver transplant patients. This finding provided a new interpretation for the variable immunosuprressant disposition after transplantation.											
154621		Omenn syndrome severe combined immunideficiency	IMMUNE	IMM	Severe Combined Immunodeficiency|Graft vs Host Disease	6	6p21.3	TNF	31651328	31654091		Haq, I. J.  et al. 2007	17572155				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Immunol    2007	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes		191160		CDC	2007												
154622		dermatomyositis myopathy, idiopathic inflammatory polymyositis	IMMUNE	IMM	Myositis|Dermatomyositis|Polymyositis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chinoy, H.  et al. 2007	17586554				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Caucasian		CDC GDP info	7124	Hs.241570			Rheumatology (Oxford)    2007	Tumour necrosis factor-{alpha} single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies		191160		CDC	2007												
154624		infection, postoperative	INFECTION	INF	Bacterial Infections|Esophageal Neoplasms|Postoperative Complications	6	6p21.3	TNF	31651328	31654091		Azim, K.  et al. 2007	17592300				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ann Surg    2007    246(1)    122-128	Genetic Polymorphisms and the Risk of Infection Following Esophagectomy. Positive Association with TNF-alpha Gene -308 Genotype		191160		CDC	2007	BACKGROUND DATA: Genetic polymorphisms for immunoregulatory cytokines may explain individual variation in response to trauma.											
154625	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	6	6p21.3	TNF	31651328	31654091		Ribeiro, C. S.  et al. 2007	17612762				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Mem Inst Oswaldo Cruz    2007    102(4)    435-40	Association of cytokine genetic polymorphism with hepatites B infection evolution in adult patients		191160		CDC	2007												
154627		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	2	2q23.3	TNFAIP6	151922350	151944806		Valdes, A. M.  et al. 2006	16453284				Tumor necrosis factor, alpha-induced protein 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007115.2		Great Britain	CDC GDP info	7130	Hs.437322			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		600410		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
154628			NORMALVARIATION	NV		8	8p21	TNFRSF10A	23104914	23138584		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	Japanese;Korean;Asian		CDC GDP info	8797	Hs.591834			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603611		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154629		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	8	8p21	TNFRSF10A	23104914	23138584		Frank, B.  et al. 2006	17035413				Tumor necrosis factor receptor superfamily, member 10a	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003844.2	German	Germany	CDC GDP info	8797	Hs.591834			Cancer Epidemiol Biomarkers Prev    2006    15(10)    2002-5	Death receptor 4 variants and colorectal cancer risk		603611		CDC	2006												
154630			NORMALVARIATION	NV		8	8p22-p21	TNFRSF10B	22933592	22982637		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 10b	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003842.3	Japanese;Korean;Asian		CDC GDP info	8795	Hs.521456			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603612		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154632		breast cancer	CANCER	CAN	Breast Neoplasms	8	8p22-p21	TNFRSF10C	22997812	23030895		Martinez-Ferrandis, J. I.  et al. 2007	17522430				Tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003841		Spain	CDC GDP info	8794	Hs.655801			Cancer Biomark    2007    3(2)    89-93	Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women		603613		CDC	2007												
154633			NORMALVARIATION	NV		8	8p21	TNFRSF10D	23049048	23077485		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003840	Japanese;Korean;Asian		CDC GDP info	8793	Hs.213467			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603614		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154634		breast cancer	CANCER	CAN	Breast Neoplasms	8	8p21	TNFRSF10D	23049048	23077485		Martinez-Ferrandis, J. I.  et al. 2007	17522430				Tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003840		Spain	CDC GDP info	8793	Hs.213467			Cancer Biomark    2007    3(2)    89-93	Polymorphisms in TRAIL receptor genes and risk of breast cancer in Spanish women		603614		CDC	2007												
154636		arthroplasty failure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Prosthesis Failure	18	18q22.1	TNFRSF11A	58143527	58204484		Malik, M. H.  et al. 2006	16583245				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Caucasian		CDC GDP info	8792	Hs.204044			Int Orthop    2006	Genetic susceptibility to hip arthroplasty failure-association with the RANK/OPG pathway		603499		CDC	2006												
154637		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Acute Disease	18	18q22.1	TNFRSF11A	58143527	58204484		Soedarsono, N.  et al. 2006	16953816				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2			CDC GDP info	8792	Hs.204044			J Periodontal Res    2006    41(5)    397-404	Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis		603499		CDC	2006	An association analysis with allelotypes showed that SNPs identified in the RANK/RANKL/OPG genes have no significant association with AgP in the Japanese population.											
154639		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	18	18q22.1	TNFRSF11A	58143527	58204484		Koh, J. M.  et al. 2006	17115234				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Korean		CDC GDP info	8792	Hs.204044			Osteoporos Int    2006	Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women		603499		CDC	2006												
154640		bone density	METABOLIC	MET		18	18q22.1	TNFRSF11A	58143527	58204484		Yang, T. L.  et al. 2007	17331078				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Caucasian		CDC GDP info	8792	Hs.204044			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		603499		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
154641	Y	height	DEVELOPMENTAL	DEV		18	18q22.1	TNFRSF11A	58143527	58204484		Chen, Y.  et al. 2007	17546619				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2			CDC GDP info	8792	Hs.204044			Am J Hum Biol    2007    19(4)    559-565	Variations in RANK gene are associated with adult height in Caucasians		603499		CDC	2007												
154642			NORMALVARIATION	NV		8	8q24	TNFRSF11B	120004976	120033492		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Japanese;Korean;Asian		CDC GDP info	4982	Hs.81791			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		602643		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154643		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	8	8q24	TNFRSF11B	120004976	120033492		Valdes, A. M.  et al. 2006	16453284				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2		Great Britain	CDC GDP info	4982	Hs.81791			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		602643		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
154645		Gaucher disease	METABOLIC	MET	Gaucher Disease	8	8q24	TNFRSF11B	120004976	120033492		Magal, I.  et al. 2006	16512834				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Ashkenazi;CaucJewish		CDC GDP info	4982	Hs.81791			Br J Haematol    2006    133(1)    93-7	Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease		602643		CDC	2006												
154646		arthroplasty failure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Prosthesis Failure	8	8q24	TNFRSF11B	120004976	120033492		Malik, M. H.  et al. 2006	16583245				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Caucasian		CDC GDP info	4982	Hs.81791			Int Orthop    2006	Genetic susceptibility to hip arthroplasty failure-association with the RANK/OPG pathway		602643		CDC	2006												
154647	N	aortic calcification atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Calcinosis	8	8q24	TNFRSF11B	120004976	120033492		Rhee, E. J.  et al. 2006	16712673			promoter	Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2	Korean		CDC GDP info	4982	Hs.81791			Clin Endocrinol (Oxf)    2006    64(6)    689-97	The relationship between four single nucleotide polymorphisms in the promoter region of the osteoprotegerin gene and aortic calcification or coronary artery disease in Koreans		602643		CDC	2006	We observed that the four polymorphisms in the promoter region of the OPG gene were not associated with aortic calcification or coronary artery disease in Koreans.											
154649		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Acute Disease	8	8q24	TNFRSF11B	120004976	120033492		Soedarsono, N.  et al. 2006	16953816				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDP info	4982	Hs.81791			J Periodontal Res    2006    41(5)    397-404	Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis		602643		CDC	2006	An association analysis with allelotypes showed that SNPs identified in the RANK/RANKL/OPG genes have no significant association with AgP in the Japanese population.											
154651		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	17	17p11.2	TNFRSF13B	16783122	16816127		Salzer, U.  et al. 2007	17464555				Tumor necrosis factor receptor superfamily, member 13B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097261			CDC GDP info	23495	Hs.158341			J Clin Immunol    2007	Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus		604907		CDC	2007												
154652		Smith-Magenis syndrome	DEVELOPMENTAL	DEV	Mental Retardation|Abnormalities, Multiple|Chromosome Deletion|Syndrome	17	17p11.2	TNFRSF13B	16783122	16816127		Edelman, E.  et al. 2007	17539903				Tumor necrosis factor receptor superfamily, member 13B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097261			CDC GDP info	23495	Hs.158341			Clin Genet    2007    71(6)    540-550	Gender, genotype, and phenotype differences in Smith-Magenis syndrome		604907		CDC	2007												
154653			NORMALVARIATION	NV		1	1p36.3-p36.2	TNFRSF14	2479150	2486613		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB208808	Japanese;Korean;Asian		CDC GDP info	8764	Hs.512898			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		602746		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154654			NORMALVARIATION	NV		16	16p13.1	TNFRSF17	11966464	11969426		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001192.2	Japanese;Korean;Asian		CDC GDP info	608	Hs.2556			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		109545		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154656			NORMALVARIATION	NV		13	13q12.11-q12.3	TNFRSF19	23042722	23148232		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148957	Japanese;Korean;Asian		CDC GDP info	55504	Hs.149168			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.				CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154657			NORMALVARIATION	NV		12	12p13.2	TNFRSF1A	6308183	6321522		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Japanese;Korean;Asian		CDC GDP info	7132	Hs.279594			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		191190		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154658	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	12	12p13.2	TNFRSF1A	6308183	6321522		Stanke, F.  et al. 2006	16463024				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	European		CDC GDP info	7132	Hs.279594			Hum Genet    2006        1-13	The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis		191190		CDC	2006	TNFRSF1A is a CF modulator											
154659		preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Menon, R.  et al. 2006	16731080				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	European		CDC GDP info	7132	Hs.279594			Am J Obstet Gynecol    2006    194(6)    1616-24	Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women		191190		CDC	2006	This is the first report to document a multilocus interaction in sPTB that predicts 65.											
154661	Y	obesity PAI-1 levels	METABOLIC	MET	Obesity	12	12p13.2	TNFRSF1A	6308183	6321522		Mavri, A.  et al. 2007	17200772	A36G			Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDP info	7132	Hs.279594			Thromb Haemost    2007    97(1)    62-6	Polymorphism A36G of the tumor necrosis factor receptor 1 gene is associated with PAI-1 levels in obese women		191190		CDC	2007												
154662		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Inflammation	12	12p13.2	TNFRSF1A	6308183	6321522		Sbarsi, I.  et al. 2007	17346438				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2	Italian		CDC GDP info	7132	Hs.279594			Int J Immunopathol Pharmacol    2007    20(1)    145-54	Inflammation and atherosclerosis		191190		CDC	2007												
154663	Y	tuberculosis tumor necrosis factor-alpha	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Stein, C. M.  et al. 2007	17431682				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDP info	7132	Hs.279594			Hum Genet    2007	Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression		191190		CDC	2007												
154665		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	12	12p13.2	TNFRSF1A	6308183	6321522		Reich, K.  et al. 2007	17530646				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDP info	7132	Hs.279594			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		191190		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
154666			NORMALVARIATION	NV		1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese;Korean;Asian		CDC GDP info	7133	Hs.256278			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		191191		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154667	N	bone density	METABOLIC	MET	Osteoporosis	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Huang, Q. Y.  et al. 2006	16502120				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian		CDC GDP info	7133	Hs.256278			J Bone Miner Metab    2006    24(2)    132-7	CA repeat polymorphism of the TNFR2 gene is not associated with bone mineral density in two independent Caucasian populations		191191		CDC	2006												
154668		preterm delivery	REPRODUCTION	REP	Obstetric Labor, Premature|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Menon, R.  et al. 2006	16731080				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	European		CDC GDP info	7133	Hs.256278			Am J Obstet Gynecol    2006    194(6)    1616-24	Multilocus interactions at maternal tumor necrosis factor-alpha, tumor necrosis factor receptors, interleukin-6 and interleukin-6 receptor genes predict spontaneous preterm labor in European-American women		191191		CDC	2006	This is the first report to document a multilocus interaction in sPTB that predicts 65.											
154669	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Horiuchi, T.  et al. 2006	17028114	TNFRSF1B 196R allele of the functional M196R			Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Japanese;Caucasian;Korean;Vietnamese;Asian		CDC GDP info	7133	Hs.256278			Ann Rheum Dis    2006	A functional M196R polymorphism of tumor necrosis factor receptor type 2 is associated with systemic lupus erythematosus		191191		CDC	2006	The 196R allele of the functional M196R polymorphism of TNF-RII is a risk factor for SLE, especially in the Asian population.											
154671		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Inflammation	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Sbarsi, I.  et al. 2007	17346438				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Italian		CDC GDP info	7133	Hs.256278			Int J Immunopathol Pharmacol    2007    20(1)    145-54	Inflammation and atherosclerosis		191191		CDC	2007												
154672		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Reich, K.  et al. 2007	17530646				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDP info	7133	Hs.256278			Arthritis Rheum    2007    56(6)    2056-2064	TNF polymorphisms in psoriasis		191191		CDC	2007	Our results indicate that there are genetic differences between psoriasis vulgaris patients with and without joint manifestations.											
154673			NORMALVARIATION	NV		6	6p21.1-12.2	TNFRSF21	47307226	47385639		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014452.3	Japanese;Korean;Asian		CDC GDP info	27242	Hs.443577			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		605732		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154674			NORMALVARIATION	NV		1	1p36.2	TNFRSF25	6443800	6448842		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 25	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148965.1	Japanese;Korean;Asian		CDC GDP info	8718	Hs.462529			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603366		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154675			NORMALVARIATION	NV		1	1p36	TNFRSF4	1136568	1139375		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003327.2	Japanese;Korean;Asian		CDC GDP info	7293	Hs.129780			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		600315		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154677		cirrhosis hepatitis, autoimmune	OTHER	OTH	Hepatitis, Autoimmune|Liver Cirrhosis|Genetic Predisposition to Disease	20	20q13.3	TNFRSF6B	61796537	61800479		Agarwal, K.  et al. 2007	17493146			promoter	Tumor necrosis factor receptor superfamily, member 6b, decoy	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF217795			CDC GDP info	8771	Hs.434878			Tissue Antigens    2007    69(3)    227-35	A functional Fas promoter polymorphism is associated with a severe phenotype in type 1 autoimmune hepatitis characterized by early development of cirrhosis		603361		CDC	2007												
154678			NORMALVARIATION	NV		1	1p36	TNFRSF8	12046020	12126851		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243.3	Japanese;Korean;Asian		CDC GDP info	943	Hs.1314			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		153243		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154679		heart transplant	CARDIOVASCULAR	CARD		1	1p36	TNFRSF8	12046020	12126851		Frisaldi, E.  et al. 2006	16641601				Tumor necrosis factor receptor superfamily, member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001243.3			CDC GDP info	943	Hs.1314			Transplantation    2006    81(8)    1153-1156	Prognostic Values of Soluble CD30 and CD30 Gene Polymorphisms in Heart Transplantation		153243		CDC	2006	sCD30 levels are predictive of HT outcome.											
154681		arthroplasty failure	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Prosthesis Failure	13	13q14	TNFSF11	42043715	42080148		Malik, M. H.  et al. 2006	16583245				Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2	Caucasian		CDC GDP info	8600	Hs.333791			Int Orthop    2006	Genetic susceptibility to hip arthroplasty failure-association with the RANK/OPG pathway		602642		CDC	2006												
154683		periodontitis	IMMUNE	IMM	Alveolar Bone Loss|Periodontitis|Acute Disease	13	13q14	TNFSF11	42043715	42080148		Soedarsono, N.  et al. 2006	16953816				Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2			CDC GDP info	8600	Hs.333791			J Periodontal Res    2006    41(5)    397-404	Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis		602642		CDC	2006	An association analysis with allelotypes showed that SNPs identified in the RANK/RANKL/OPG genes have no significant association with AgP in the Japanese population.											
154684		bone density	METABOLIC	MET		13	13q14	TNFSF11	42043715	42080148		Yang, T. L.  et al. 2007	17331078				Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2	Caucasian		CDC GDP info	8600	Hs.333791			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		602642		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
154685		lupus erythematosus rheumatoid arthritis	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17p13.1	TNFSF13	7393098	7405649		Kawasaki, A.  et al. 2007	17307753				Tumor necrosis factor (ligand) superfamily, member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003808.2			CDC GDP info	8741	Hs.54673			Rheumatology (Oxford)    2007	Role of APRIL (TNFSF13) polymorphisms in the susceptibility to systemic lupus erythematosus in Japanese		604472		CDC	2007	In addition to replicating the protective role of APRIL c.											
154686		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	17	17p13.1	TNFSF13	7393098	7405649		Lee, Y. H.  et al. 2007	17569747				Tumor necrosis factor (ligand) superfamily, member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003808.2	Japanese;Hispanic ;European		CDC GDP info	8741	Hs.54673			Rheumatology (Oxford)    2007	APRIL polymorphism and systemic lupus erythematosus (SLE) susceptibility		604472		CDC	2007												
154688			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	19	19p13.3	TNFSF14	6615565	6621599		Lee, J. K.  et al. 2003	12768436				Tumor necrosis factor (ligand) superfamily, member 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF064090	Japanese;Caucasian;Korean		CDC GDP info	8740	Hs.129708			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		604520		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
154689	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	9	9q32	TNFSF15	116591431	116608229		McGovern, D. P.  et al. 2006	17030188				Tumor necrosis factor (ligand) superfamily, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005118.2			CDC GDP info	9966	Hs.241382			Gastroenterology    2006    131(4)    1190-6	TUCAN (CARD8) Genetic Variants and Inflammatory Bowel Disease		604052		CDC	2006	We have shown an association between a likely functional polymorphism in TUCAN and CD.		smoking (tobacco)									
154690		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	1	1q25	TNFSF4	171419492	171443094		Yamaguchi, S.  et al. 2006	17016617				Tumor necrosis factor (ligand) superfamily, member 4 (tax-transcriptionally activated glycoprotein 1, 34kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003326.2			CDC GDP info	7292	Hs.181097			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		603594		CDC	2006												
154692		cardiac hypertrophy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	19	19q13.4	TNNI3	60354949	60360858		Garcia-Castro, M.  et al. 2006	17101185				Troponin I type 3 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000363.3			CDC GDP info	7137	Hs.631588			Int J Cardiol    2006	Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients		191044		CDC	2006												
154693		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	1	1q32	TNNT2	199594764	199613428		Morita, H.  et al. 2006	16754800				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2		United States	CDC GDP info	7139	Hs.533613			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		191045		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
154694	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	1	1q32	TNNT2	199594764	199613428		Martins, E.  et al. 2006	16789403				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2	Portuguese		CDC GDP info	7139	Hs.533613			Rev Port Cardiol    2006    25(3)    295-300	Familial dilated cardiomyopathy with troponin T K210del mutation		191045		CDC	2006	These results reinforce previous work by others, indicating that this mutation is a bad prognostic factor in familial forms of DCM.											
154695		cardiac hypertrophy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	1	1q32	TNNT2	199594764	199613428		Garcia-Castro, M.  et al. 2006	17101185				Troponin T type 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000364.2			CDC GDP info	7139	Hs.533613			Int J Cardiol    2006	Prevalence and spectrum of mutations in the sarcomeric troponin T and I genes in a cohort of Spanish cardiac hypertrophy patients		191045		CDC	2006												
154697	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	16	16p13.13	TNP2	11269214	11270661		Aoki, V. W.  et al. 2006	16989827				Transition protein 2 (during histone to protamine replacement)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005425.4		Utah	CDC GDP info	7142	Hs.513349			Fertil Steril    2006	Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility		190232		CDC	2006	A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.											
154698		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q35-q36	TNS1	218375746	218551787		Beaty, T. H.  et al. 2006	16953426				Tensin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022648	Singapore		CDC GDP info	7145	Hs.471381			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations				CDC	2006												
154700	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	11	11p15.5	TOLLIP	1252176	1287415		Schimming, T. T.  et al. 2007	17362526				Toll interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK127123		Germany	CDC GDP info	54472	Hs.368527			BMC Dermatol    2007    7(1)    3	Association of toll-interacting protein gene polymorphisms with atopic dermatitis		606277		CDC	2007	Variation in the TOLLIP gene may play a role in the pathogenesis of AD.											
154701		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	17	17q21-q22	TOP2A	35798304	35827695		Monzo, M.  et al. 2006	16507781				Topoisomerase (DNA) II alpha 170kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001067	French		CDC GDP info	7153	Hs.156346			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		126430		CDC	2006			chemotherapy									
154702		breast cancer ovarian cancer	CANCER	CAN	Breast Neoplasms|Ovarian Neoplasms|Genetic Predisposition to Disease	3	3q22.1	TOPBP1	134802176	134863380		Karppinen, S. M.  et al. 2006	16930991				Topoisomerase (DNA) II binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=D87448	Finnish		CDC GDP info	11073	Hs.53454			Eur J Cancer    2006	Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer		607760		CDC	2006												
154704		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	9	9q34	TOR1A	131615041	131626262		Naiya, T.  et al. 2006	16911351				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	Indian		CDC GDP info	1861	Hs.534312			Acta Neurol Scand    2006    114(3)    210-5	Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients		128100		CDC	2006	Our results suggest that the DYT1 gene might have a limited role in causation of dystonia in the Indian population.											
154705	Y	dystonia	NEUROLOGICAL	NEUR	Dystonic Disorders|Genetic Predisposition to Disease	9	9q34	TOR1A	131615041	131626262		Kamm, C.  et al. 2006	17130424				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	German;Icelandic		CDC GDP info	1861	Hs.534312			Neurology    2006    67(10)    1857-9	Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia		128100		CDC	2006												
154706	P		NORMALVARIATION	NV		9	9q34	TOR1A	131615041	131626262		Frederic, M.  et al. 2007	17290457				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	French		CDC GDP info	1861	Hs.534312			Mov Disord    2007	First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population		128100		CDC	2007												
154707		dystonia, torsion	NEUROLOGICAL	NEUR	Dystonia Musculorum Deformans|Genetic Predisposition to Disease	9	9q34	TOR1A	131615041	131626262		Risch, N. J.  et al. 2007	17503336				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2			CDC GDP info	1861	Hs.534312			Am J Hum Genet    2007    80(6)    1188-93	Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia		128100		CDC	2007												
154709		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8		TOX	59880530	60194321		Stacey, S. N. Et al.  et al. 2007	17529974				Thymus high mobility group box protein TOX	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=	European;Icelandic		CDC GDP info	9760	Hs.491805			Nat Genet    2007	Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer		606863		CDC	2007	we studied 4,554 affected individuals and 17,577 controls.											
154710			NORMALVARIATION	NV		17	17p13.1	TP53	7505821	7531642		Hamajima, N.  et al. 2002	12164325				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		191170		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
154711		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642			16407418				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		191170		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
154713		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Wu, X.  et al. 2006	16465622				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Am J Hum Genet    2006    78(3)    464-79	Bladder Cancer Predisposition		191170		CDC	2006			smoking (tobacco)									
154714	Y	psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Butt, C.  et al. 2006	16507123				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Caucasian		CDC GDP info	7157	Hs.408312			Arthritis Res Ther    2006    8(1)    R27	Association of functional variants of PTPN22 and tp53 in psoriatic arthritis		191170		CDC	2006												
154716	N	pemphigus	IMMUNE	IMM	Pemphigus	17	17p13.1	TP53	7505821	7531642		Kohler, K. F.  et al. 2006	16611260				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Brazilian		CDC GDP info	7157	Hs.408312			Int J Immunogenet    2006    33(2)    141-4	No evidence for association of the TP53 12139 and the BAX-248 polymorphisms with endemic pemphigus foliaceus (fogo selvagem)		191170		CDC	2006	although the TP53 and BAX alleles analysed differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere with the development of the disease.											
154718	N	lung cancer	CANCER	CAN	Lung Neoplasms|Cell Transformation, Neoplastic	17	17p13.1	TP53	7505821	7531642		Gu, J.  et al. 2006	16691626				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Caucasian;Mexican;Mexican American		CDC GDP info	7157	Hs.408312			Cancer    2006	A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans		191170		CDC	2006	To the authors\ knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.											
154719	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Lee, Y. L.  et al. 2006	16697770				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Taiwan	CDC GDP info	7157	Hs.408312			J Lab Clin Med    2006    147(5)    228-33	Polymorphisms of p53 and p21 genes in chronic obstructive pulmonary disease		191170		CDC	2006	The polymorphisms of p53 and p21 were significantly associated with the occurrence of smoking-related COPD in Taiwan Chinese patients.											
154720		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Lima, J. M.  et al. 2006	16699611				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Arq Gastroenterol    2006    43(1)    8-13	Role of the genetic polymorphism of p53 (codon 72) gene in colorectal cancer.		191170		CDC	2006	Homozygosity for arginine was the most prevalent genotype in both groups.											
154721		ovarian cancer	CANCER	CAN		17	17p13.1	TP53	7505821	7531642		Morari, E. C.  et al. 2006	16710704				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Cancer Res Clin Oncol    2006	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		191170		CDC	2006			chemotherapy									
154722	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Yuan, P.  et al. 2006	16750013				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Zhonghua Zhong Liu Za Zhi    2006    28(2)    107-10	Association of the responsiveness of advanced non-small cell lung cancer to platinum-based chemotherapy with p53 and p73 polymorphisms.		191170		CDC	2006	Those results suggest that p53 and p73 polymorphisms may be associated with clinical responsiveness to platinum-based chemotherapy in advanced NSCLC.		chemotherapy									
154724	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Disease Susceptibility	17	17p13.1	TP53	7505821	7531642		Morari, E. C.  et al. 2006	16788846				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Cancer Res Clin Oncol    2006    132(8)    521-8	Role of glutathione-S-transferase and codon 72 of P53 genotypes in epithelial ovarian cancer patients		191170		CDC	2006	We were unable to demonstrate any association between the GST genotypes studied and the risk of ovarian cancer but the inheritance of a heterozygous Arg/Pro genotype of p53 increased the risk of ovarian cancer more than 2.5 times (OR = 2.571; 95% CI = 1.453-4.550). There was no association of the studied genes to any clinical or pathological feature of the patients or to their response to chemotherapy.											
154725		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	17	17p13.1	TP53	7505821	7531642		Wu, X.  et al. 2006	16808798				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Chin J Dig Dis    2006    7(3)    170-4	Evaluation of the diagnostic value of serum tumor markers, and fecal k-ras and p53 gene mutations for pancreatic cancer		191170		CDC	2006	Serum CA199 and CA242 are valuable diagnostic tools for pancreatic cancer.											
154727	Y	breast cancer	CANCER	CAN	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Boersma, B. J.  et al. 2006	16818855				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Natl Cancer Inst    2006    98(13)    911-919	Association of Breast Cancer Outcome With Status of p53 and MDM2 SNP309		191170		CDC	2006	A strong interaction between SNP309 status and tumor p53 status appears to modify the association between p53 status and breast cancer survival.											
154728		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Hung, R. J.  et al. 2006	16912209				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Cancer Res    2006    66(16)    8280-6	Sequence Variants in Cell Cycle Control Pathway, X-ray Exposure, and Lung Cancer Risk		191170		CDC	2006	can only be drawn on replication by different studies among individuals who are highly exposed to IR.		radiation									
154729		lymphoproliferative disorders	CANCER	CAN	Arthritis, Rheumatoid|Lymphoproliferative Disorders	17	17p13.1	TP53	7505821	7531642		Xu, J. X.  et al. 2007	16988840				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Cancer Res Clin Oncol    2007    133(2)    125-33	Analysis of p53 and Bak gene mutations in lymphoproliferative disorders developing in rheumatoid arthritis		191170		CDC	2007	MTX-LPD and non-MTX-LPD show similar findings in clinical characteristics, histology, EBV positive rate, and frequency of Bak gene mutations. Whereas the non-MTX-LPD is distinct from the MTX-LPD in its significantly higher p53 mutation frequency.											
154731		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Breast Cancer Association, = Consortium  et al. 2006	17018785				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		191170		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
154732		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Popanda, O.  et al. 2006	17059853				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Lung Cancer    2006	Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles of the TP53 Arg72Pro and p21 Ser31Arg polymorphisms		191170		CDC	2006			smoking (tobacco)									
154734		head and neck cancer mutagen sensitivity	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Lu, J.  et al. 2006	17118968			5' untranslated region	Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	non-Hispanic		CDC GDP info	7157	Hs.408312			Carcinogenesis    2006	172G>T variant in the 5' untranslated region of DNA repair gene RAD51 reduces risk of squamous cell carcinoma of the head and neck and interacts with a P53 codon 72 variant		191170		CDC	2006			radiation									
154735		ovarian cancer peritoneal cancer	PHARMACOGENOMIC	PHARM	Peritoneal Neoplasms|Ovarian Neoplasms|Fallopian Tube Neoplasms	17	17p13.1	TP53	7505821	7531642		Galic, V.  et al. 2006	17171684				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Genes Chromosomes Cancer    2006	Common polymorphisms in TP53 and MDM2 and the relationship to TP53 mutations and clinical outcomes in women with ovarian and peritoneal carcinomas		191170		CDC	2006			chemotherapy									
154736		Lynch syndrome	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	17	17p13.1	TP53	7505821	7531642		Kruger, S.  et al. 2007	17224235				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Cancer Lett    2007	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1		191170		CDC	2007												
154737		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Johnson, N.  et al. 2007	17341484				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		191170		CDC	2007												
154738	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Alpizar-Alpizar, W.  et al. 2005	17354442				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Rev Biol Trop    2005    53(3-4)    317-24	Association of the p53 codon 72 polymorphism to gastric cancer risk in a hight risk population of Costa Rica		191170		CDC	2005												
154739		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Cox, D. G.  et al. 2007	17387621				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Cancer Causes Control    2007	The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies		191170		CDC	2007												
154740		breast cancer	CANCER	CAN		17	17p13.1	TP53	7505821	7531642		Johnson, N.  et al. 2007	17409195				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		191170		CDC	2007												
154741		lung cancer	CANCER	CAN	Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Zhang, W.  et al. 2006	17409930				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			J Thorac Oncol    2006    1(7)    635-47	Mutation and polymorphism in the EGFR-TK domain associated with lung cancer		191170		CDC	2006	EGFR-TK mutation frequency is high in never-smoking lung cancer patients and is exclusive of mutation in K-ras but not p53. In addition to somatic EGFR-TK mutations that arise in lung tumors, germline variation in the EGFR-TK domain might also be associated with an increased risk of lung cancer. Somatic EGFR-TK mutations alter cell biology and response to EGFR-TKIs and may be mutation specific.		smoking smoking (tobacco)									
154742	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Baynes, C.  et al. 2007	17428325				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Breast Cancer Res    2007    9(2)    R27	Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk		191170		CDC	2007	It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.											
154743	Y	breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	17	17p13.1	TP53	7505821	7531642		Toyama, T.  et al. 2007	17537232				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Breast Cancer Res    2007    9(3)    R34	Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients		191170		CDC	2007	The Pro/Pro genotype of TP53 codon 72 appears to be an independent prognostic marker in breast cancer patients.		chemotherapy									
154744		oral cancer	CANCER	CAN	Mouth Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Bau, D. T.  et al. 2007	17595776	Arg allele of the p53 codon 72			Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Anticancer Res    2007    27(3B)    1559-64	Association of p53 and p21(CDKN1A/WAF1/CIP1) polymorphisms with oral cancer in Taiwan patients		191170		CDC	2007	Our findings suggest that the homozygous Arg allele of the p53 codon 72 may be associated with the development of oral cancer and be a useful marker for primary prevention and anticancer intervention.											
154745			NORMALVARIATION	NV		1	1p36.3	TP73	3558988	3640317		Hamajima, N.  et al. 2002	12164325				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDP info	7161	Hs.192132			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		601990		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
154746		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Schabath, M. B.  et al. 2006	16434604				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Hispanic Caucasian;non-Hispanic		CDC GDP info	7161	Hs.192132			Cancer Epidemiol Biomarkers Prev    2006    15(1)    158-61	Combined Effects of the p53 and p73 Polymorphisms on Lung Cancer Risk		601990		CDC	2006			smoking (tobacco)									
154748	Y	breast cancer	CANCER	CAN	Breast Neoplasms	1	1p36.3	TP73	3558988	3640317		Li, H.  et al. 2006	16950799				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDP info	7161	Hs.192132			Carcinogenesis    2006	Association of p73 G4C14-to-A4T14 (GC/AT) polymorphism with breast cancer survival		601990		CDC	2006												
154749		lung cancer	CANCER	CAN		1	1p36.3	TP73	3558988	3640317		Jun, H. J.  et al. 2006	17013834				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Korean		CDC GDP info	7161	Hs.192132			Mol Carcinog    2006	Combined effects of p73 and MDM2 polymorphisms on the risk of lung cancer		601990		CDC	2006												
154750	Y	esophageal cancer gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Ge, H.  et al. 2006	17094900				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDP info	7161	Hs.192132			Ai Zheng    2006    25(11)    1351-1355	Correlation of p73 Polymorphisms to Genetic Susceptibilities to Esophageal Carcinoma and Gastric Cardiac Carcinoma.		601990		CDC	2006	In p73 G4C14-A4T14 polymorphisms, the GC/AT genotype increases the risk of developing GCA among the subjects without family history of UGIC.		family history smoking (tobacco)									
154751	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Choi, J. E.  et al. 2006	17136456	TP73 G4C14-to-A4T14			Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1	Korean		CDC GDP info	7161	Hs.192132			Biochem Genet    2006	No Association Between p73 G4C14-to-A4T14 Polymorphism and the Risk of Lung Cancer in a Korean Population		601990		CDC	2006												
154752	N	esophageal cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Genetic Predisposition to Disease	1	1p36.3	TP73	3558988	3640317		Ge, H.  et al. 2007	17617876				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDP info	7161	Hs.192132			Dis Esophagus    2007    20(4)    290-6	The p73 polymorphisms are not associated with susceptibility to esophageal squamous cell carcinoma in a high incidence region of China		601990		CDC	2007			family history smoking (tobacco)									
154753		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	3	3q27-q29	TP73L	190831909	191097758		Leoyklang, P.  et al. 2006	16740912				Tumor protein p73-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003722.3	Thai		CDC GDP info	8626	Hs.137569			J Med Genet    2006    43(6)    e28	A mutation of the p63 gene in non-syndromic cleft lip		603273		CDC	2006												
154755		suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Li, D.  et al. 2006	16450114				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	European;Asian		CDC GDP info	7166	Hs.591999			Hum Genet    2006    119(3)    233-40	Further clarification of the contribution of the tryptophan hydroxylase (TPH) gene to suicidal behavior using systematic allelic and genotypic meta-analyses		191060		CDC	2006												
154756	Y	suicide	PSYCH	PSY	Genetic Predisposition to Disease|Mental Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Liu, X.  et al. 2006	16467214				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			J Med Genet    2006    43(2)    e4	Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese population		191060		CDC	2006												
154757		bipolar disorder suicide	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Zaboli, G.  et al. 2006	16495936				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Caucasian		CDC GDP info	7166	Hs.591999			Neuropsychopharmacology    2006	Tryptophan Hydroxylase-1 Gene Variants Associate with a Group of Suicidal Borderline Women		191060		CDC	2006												
154758		personality traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Tochigi, M.  et al. 2006	16682118				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Neurosci Lett    2006	No association of 5-HT(2C), 5-HT(6), and tryptophan hydroxylase-1 gene polymorphisms with personality traits in the Japanese population		191060		CDC	2006												
154759		suicide	CHEMDEPENDENCY	CHEM	Alcoholism|Mental Disorders|Depressive Disorder, Major|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Viana, M. M.  et al. 2006	16716203				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Genes Brain Behav    2006    5(4)    340-5	Investigation of A218C tryptophan hydroxylase polymorphism		191060		CDC	2006												
154760	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Li, D.  et al. 2006	16741719				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Hum Genet    2006    120(1)    22-30	Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia		191060		CDC	2006												
154762		depression	PSYCH	PSY	Diseases in Twins|Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Christiansen, L.  et al. 2006	16806099				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Danish		CDC GDP info	7166	Hs.591999			Biol Psychiatry    2006	Candidate Gene Polymorphisms in the Serotonergic Pathway		191060		CDC	2006	These results suggest that variations in genes encoding the components of serotonin metabolism may influence the basic mood level and that different genetic factors may apply in men and women.											
154763		panic disorder	PSYCH	PSY	Panic Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Kim, W.  et al. 2006	16822601				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Korean		CDC GDP info	7166	Hs.591999			Prog Neuropsychopharmacol Biol Psychiatry    2006	Tryptophan hydroxylase and serotonin transporter gene polymorphism does not affect the diagnosis, clinical features and treatment outcome of panic disorder in the Korean population		191060		CDC	2006												
154764		harm avoidance novelty seeking personality traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Keltikangas-Jarvinen, L.  et al. 2006	16848783				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Genes Brain Behav    2006	Tryptophan hydroxylase 1 gene haplotypes modify the effect of a hostile childhood environment on adulthood harm avoidance		191060		CDC	2006			childhood environment									
154766	Y	depression	PHARMACOGENOMIC	PHARM	Depressive Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Ham, B. J.  et al. 2006	16979275				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1		Korea	CDC GDP info	7166	Hs.591999			Prog Neuropsychopharmacol Biol Psychiatry    2006	Association between the tryptophan hydroxylase-1 gene A218C polymorphism and citalopram antidepressant response in a Korean population		191060		CDC	2006			citalopram									
154767	N	premenstrual dysphoric disorder	REPRODUCTION	REP	Premenstrual Syndrome|Mental Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Magnay, J. L.  et al. 2006	17026953				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Am J Obstet Gynecol    2006	Serotonin transporter, tryptophan hydroxylase, and monoamine oxidase A gene polymorphisms in premenstrual dysphoric disorder		191060		CDC	2006	These findings do not support a major role for common 5-hydroxytryptamine transporter, TPH1, and monoamine oxidase A polymorphisms in contributing to susceptibility to premenstrual dysphoric disorder.											
154768	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	11	11p15.3-p14	TPH1	17999113	18018885		Anttila, S.  et al. 2006	17066254				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			J Neural Transm    2006	Interaction between TPH1 and GNB3 genotypes and electroconvulsive therapy in major depression		191060		CDC	2006												
154769	N	personality traits	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Suzuki, A.  et al. 2006	17116352	TPH1 A218C			Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Prog Neuropsychopharmacol Biol Psychiatry    2006	No association between the TPH A218C polymorphism and personality traits in Japanese healthy subjects		191060		CDC	2006												
154771	N	migraine	NEUROLOGICAL	NEUR	Migraine Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Erdal, N.  et al. 2006	17194593				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			J Clin Neurosci    2006	The A218C polymorphism of tryptophan hydroxylase gene and migraine		191060		CDC	2006	Since it is unlikely that TPH polymorphism alters serotonin biosynthesis, its association with migraine may be attributed to linkage disequilibrium with a functional variant within the TPH gene or a nearby gene.											
154772		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Coutinho, A. M.  et al. 2007	17203304				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Hum Genet    2007	Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels		191060		CDC	2007												
154773		decision making	PSYCH	PSY	Learning Disorders|Mood Disorders	11	11p15.3-p14	TPH1	17999113	18018885		Jollant, F.  et al. 2007	17221847				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Am J Med Genet B Neuropsychiatr Genet    2007	The influence of four serotonin-related genes on decision-making in suicide attempters		191060		CDC	2007												
154774		Autism	PSYCH	PSY	Autistic Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Cross, S.  et al. 2007	17406648				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999	5-hydroxytryptamine		Neuropsychopharmacology    2007	Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism		191060		CDC	2007												
154776	Y	bulimia harm avoidance personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Bulimia|Bulimia Nervosa	11	11p15.3-p14	TPH1	17999113	18018885		Monteleone, P.  et al. 2007	17548152				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Caucasian		CDC GDP info	7166	Hs.591999			Neurosci Lett    2007	Association between A218C polymorphism of the tryptophan-hydroxylase-1 gene, harm avoidance and binge eating behavior in bulimia nervosa		191060		CDC	2007												
154777		suicide	PSYCH	PSY	Bipolar Disorder|Schizophrenia	12	12q21.1	TPH2	70618892	70712488		De Luca, V.  et al. 2006	16436194			promoter	Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Genes Brain Behav    2006    5(1)    107-10	The interaction between TPH2 promoter haplotypes and clinical-demographic risk factors in suicide victims with major psychoses		607478		CDC	2006												
154778	N	affective psychoses autism obsessive compulsive disorder	PSYCH	PSY	Mental Disorders	12	12q21.1	TPH2	70618892	70712488		Delorme, R.  et al. 2006	16581035				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Biol Psychiatry    2006	No Human Tryptophan Hydroxylase-2 Gene R441H Mutation in a Large Cohort of Psychiatric Patients and Control Subjects		607478		CDC	2006	Our results do not confirm the role of the R441H mutation of the hTPH2 gene in the susceptibility to UP.											
154780		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	12	12q21.1	TPH2	70618892	70712488		Goertzel, B. N.  et al. 2006	16610957				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Pharmacogenomics    2006    7(3)    475-83	Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome		607478		CDC	2006	The fact that only 28 out of several million possible SNPs predict whether a person has CFS with 76% accuracy indicates that CFS has a genetic component that may help to explain some aspects of the illness.											
154781		cocaine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Genetic Predisposition to Disease	12	12q21.1	TPH2	70618892	70712488		Dahl, J. P.  et al. 2006	16759340				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Addict Biol    2006    11(1)    76-83	Analysis of variations in the tryptophan hydroxylase-2 (TPH2) gene in cocaine dependence		607478		CDC	2006												
154783	Y	bipolar disorder suicide	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	12	12q21.1	TPH2	70618892	70712488		Lopez, V. A.  et al. 2006	16806105				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Biol Psychiatry    2006	Nested Association Between Genetic Variation in Tryptophan Hydroxylase II, Bipolar Affective Disorder, and Suicide Attempts		607478		CDC	2006	The TPH2 might contribute to the risk of both BPAD and SA in families with BPAD.											
154784	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	12	12q21.1	TPH2	70618892	70712488		Brookes, K. et al  et al. 2006	16894395				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Mol Psychiatry    2006    11(10)    934-53	The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder		607478		CDC	2006												
154785		autism	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	12	12q21.1	TPH2	70618892	70712488		Ramoz, N.  et al. 2006	16958027				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Am J Med Genet B Neuropsychiatr Genet    2006	Family-based association study of TPH1 and TPH2 polymorphisms in autism		607478		CDC	2006												
154787	Y	bipolar disorder unipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder	12	12q21.1	TPH2	70618892	70712488		Van Den Bogaert, A.  et al. 2006	17015812				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2		Sweden	CDC GDP info	121278	Hs.376337			Arch Gen Psychiatry    2006    63(10)    1103-10	Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population		607478		CDC	2006	Haplotype-based analysis of TPH2 in patients with UP and BP disorder and controls from northern Swedish descent provides preliminary evidence for protective association in both disorders and thus supports a central role for TPH2 in the pathogenesis of affective disorders.											
154788	N	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	12	12q21.1	TPH2	70618892	70712488		Sheehan, K.  et al. 2006	17123708				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2	Irish		CDC GDP info	121278	Hs.376337			Neurosci Lett    2006	No association between TPH2 gene polymorphisms and ADHD in a UK sample		607478		CDC	2006												
154789		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	12	12q21.1	TPH2	70618892	70712488		Maron, E.  et al. 2006	17123728				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Neurosci Lett    2006	Association study of tryptophan hydroxylase 2 gene polymorphisms in panic disorder		607478		CDC	2006												
154791	Y	personality traits	PSYCH	PSY		12	12q21.1	TPH2	70618892	70712488		Reuter, M.  et al. 2006	17176491			promoter	Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2	Caucasian		CDC GDP info	121278	Hs.376337			Int J Neuropsychopharmacol    2006        1-4	Association between a polymorphism in the promoter region of the TPH2 gene and the personality trait of harm avoidance		607478		CDC	2006												
154792		personality traits	PSYCH	PSY	Personality Disorders	12	12q21.1	TPH2	70618892	70712488		Gutknecht, L.  et al. 2006	17176492				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Int J Neuropsychopharmacol    2006        1-12	Tryptophan hydroxylase-2 gene variation influences personality traits and disorders related to emotional dysregulation		607478		CDC	2006												
154794		decision making	PSYCH	PSY	Learning Disorders|Mood Disorders	12	12q21.1	TPH2	70618892	70712488		Jollant, F.  et al. 2007	17221847				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Am J Med Genet B Neuropsychiatr Genet    2007	The influence of four serotonin-related genes on decision-making in suicide attempters		607478		CDC	2007												
154795	N	alcoholism suicide	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders	12	12q21.1	TPH2	70618892	70712488		Zill, P.  et al. 2007	17251907				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Neuropsychopharmacology    2007	SNP- and Haplotype Analysis of the Tryptophan Hydroxylase 2 Gene in Alcohol-Dependent Patients and Alcohol-Related Suicide		607478		CDC	2007	our results suggest that single SNPs, respectively, haplotypes of the TPH2 gene are unlikely to play a major role in the pathophysiology of alcohol dependence or the alcoholism-related phenotype suicidal behavior. Further analysis are needed to confirm these results.Neuropsychopharmacology (2007) 32, 1687-1694; doi:10.1038/sj.npp.1301318; published online 24 January 2007.											
154796		autism	PSYCH	PSY	Autistic Disorder	12	12q21.1	TPH2	70618892	70712488		Sacco, R.  et al. 2007	17346350				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			BMC Med Genet    2007    8(1)    11	Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes		607478		CDC	2007	TPH2 gene variants are unlikely to contribute to autism or to the presence/absence of prominent repetitive behaviors in our sample, although an influence on the intensity of these behaviors in autism cannot be excluded. GLO1 gene variants do not confer autism vulnerability in this sample, but allele A419 apparently carries a protective effect, spurring inter											
154797	N	depression, interferon-induced	PSYCH	PSY	Hepatitis C, Chronic|Genetic Predisposition to Disease	12	12q21.1	TPH2	70618892	70712488		Kraus, M. R.  et al. 2007	17408646				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2		Germany	CDC GDP info	121278	Hs.376337			Gastroenterology    2007	Serotonin-1A Receptor Gene HTR1A Variation Predicts Interferon-Induced Depression in Chronic Hepatitis C		607478		CDC	2007	Our findings suggest an impact of allelic variation in 5-HT(1A) receptor expression on the development of interferon alfa-induced depression during antiviral treatment of chronic hepatitis C. Prediction models of interferon-induced depressive symptoms based on HTR1A variation offer a perspective for an antidepressant selective serotonin reuptake inhibitor prophylaxis in patients genetically at risk for interferon-induced depression.											
154798	N	monoamine turnover mood disorders suicide	PSYCH	PSY		12	12q21.1	TPH2	70618892	70712488		Mann, J. J.  et al. 2007	17604842	rs4131347 (-C8347G)		promoter	Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			J Affect Disord    2007	No association between a TPH2 promoter polymorphism and mood disorders or monoamine turnover	rs4131347	607478		CDC	2007	No association was detected between the rs4131347 (-C8347G) SNP in the promoter region of the TPH2 gene and mood disorders, suicidal behavior or monoamine function.											
154800		6-Thioguanine pharmacokinetics inflammatory bowel disease	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353			16418693				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Ther Drug Monit    2006    28(1)    45-50	Pharmacokinetics of 6-Thioguanine in Patients With Inflammatory Bowel Disease		187680		CDC	2006			6-Thioguanine									
154801	Y	hepatotoxicity leukopenia	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Hepatitis, Toxic|Leukopenia	6	6p22.3	TPMT	18236523	18263353		Zelinkova, Z.  et al. 2006	16431304				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Clin Gastroenterol Hepatol    2006    4(1)    44-9	Inosine triphosphate pyrophosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppression		187680		CDC	2006	ITPA 94C>A and TPMT polymorphisms are associated with AZA-related leukopenia in IBD patients.		azathioprine									
154802	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Lu, H. F.  et al. 2006	16476125				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			J Clin Pharm Ther    2006    31(1)    93-8	Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese		187680		CDC	2006	Our results provide useful information for using thiopurine drugs in these populations.											
154803	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Corominas, H.  et al. 2006	16595084				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Spanish;Spanish;Caucasian		CDC GDP info	7172	Hs.444319			Med Clin (Barc)    2006    126(11)    410-2	Frequency of thiopurine S-methyltransferase alleles in different ethnic groups living in Spain.		187680		CDC	2006	The frequencies of the mutant TPMT alleles observed in the 3 groups are similar to those reported in Caucasian populations.											
154804	N	azathiprine adverse events	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Pancreatitis|Leukopenia|Genetic Predisposition to Disease	6	6p22.3	TPMT	18236523	18263353		De Ridder, L.  et al. 2006	16611274				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Aliment Pharmacol Ther    2006    23(8)    1137-41	Pharmacogenetics of thiopurine therapy in paediatric IBD patients		187680		CDC	2006	No association of functional ITPA and TPMT polymorphisms and the occurrence of azathioprine related adverse events could be detected.											
154805		thiopurine S-methyltransferase activity	PHARMACOGENOMIC	PHARM		6	6p22.3	TPMT	18236523	18263353		Milek, M.  et al. 2006	16691038				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Pharmacology    2006    77(3)    105-114	Thiopurine S-Methyltransferase Pharmacogenetics		187680		CDC	2006												
154807	N	azathioprine toxicity hepatitis, autoimmune	PHARMACOGENOMIC	PHARM	Hepatitis, Autoimmune|Liver Cirrhosis	6	6p22.3	TPMT	18236523	18263353		Heneghan, M. A.  et al. 2006	16876902				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			J Hepatol    2006	Utility of thiopurine methyltransferase genotyping and phenotyping, and measurement of azathioprine metabolites in the management of patients with autoimmune hepatitis		187680		CDC	2006	Advanced fibrosis but not TPMT genotype or activity predicts azathioprine toxicity in AIH.											
154808	P		NORMALVARIATION	NV	Metabolism, Inborn Errors	6	6p22.3	TPMT	18236523	18263353		Schaeffeler, E.  et al. 2006	16917910				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Caucasian		CDC GDP info	7172	Hs.444319			Hum Mutat    2006    27(9)    976	Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function		187680		CDC	2006												
154810		thiopurine pharmacokinetics	PHARMACOGENOMIC	PHARM	Uremia	6	6p22.3	TPMT	18236523	18263353		Zhang, L. R.  et al. 2006	16952345				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Clin Chim Acta    2006	Efficient screening method of the thiopurine methyltransferase polymorphisms for patients considering taking thiopurine drugs in a Chinese Han population in Henan Province (central China)		187680		CDC	2006	We defined the cut-off values for the TPMT phenotyping assay at 10.07 nmol/h/ml pRBC, less than which additional genotyping elucidates the individual risk for drug therapy. In uremic patients, TPMT activity is increased by some uremic factors, and dialysis shifted their TPMT activity close to that of a healthy control group.											
154811	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Lu, Y.  et al. 2006	17113562				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Chinese;Caucasian;Indian;Singapore		CDC GDP info	7172	Hs.444319			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		187680		CDC	2006												
154813		thiopurine methyltransferase activity	METABOLIC	MET	Leukemia|Acute Disease	6	6p22.3	TPMT	18236523	18263353		Ma, X. L.  et al. 2006	17152495				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Zhonghua Zhong Liu Za Zhi    2006    28(6)    456-9	Relationships between thiopurine methyltransferase gene polymorphisms and its enrymatic activity		187680		CDC	2006	TPMT gene polymorphisms and its activity were concordant.											
154814		leuopenia, thiopurine-related	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1	6	6p22.3	TPMT	18236523	18263353		Dokmanovic, L.  et al. 2006	17164697				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Ther Drug Monit    2006    28(6)    800-6	Analysis of thiopurine S-methyltransferase polymorphism in the population of Serbia and Montenegro and mercaptopurine therapy tolerance in childhood acute lymphoblastic leukemia		187680		CDC	2006												
154815	Y	kidney transplant	RENAL	REN		6	6p22.3	TPMT	18236523	18263353		Song, D. K.  et al. 2006	17176368				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			J Clin Pharm Ther    2006    31(6)    627-35	TPMT genotype and its clinical implication in renal transplant recipients with azathioprine treatment		187680		CDC	2006	Our results, together with those of others pointing in the same direction, suggest that genotyping the major TPMT variant alleles may be a valuable tool in preventing AZA toxicity and optimization of immunosuppressive therapy.											
154816		azathioprine adverse effects	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases	6	6p22.3	TPMT	18236523	18263353		Stocco, G.  et al. 2007	17206640				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Inflamm Bowel Dis    2007    13(1)    57-64	Glutathione-S-transferase genotypes and the adverse effects of azathioprine in young patients with inflammatory bowel disease		187680		CDC	2007	Patients with IBD with a wildtype GST-M1 genotype present increased probability of developing adverse effects and increased incidence of lymphopenia during azathioprine treatment.											
154817		thiopurine S-methyltransferase activity	METABOLIC	MET		6	6p22.3	TPMT	18236523	18263353		Chrzanowska, M.  et al. 2006	17220558				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Pharmacol Rep    2006    58(6)    973-8	Thiopurine S-methyltransferase phenotype-genotype correlation in hemodialyzed patients		187680		CDC	2006												
154818	Y	cirrhosis, biliary primary hepatitis, autoimmune	IMMUNE	IMM	Gastrointestinal Diseases|Hepatitis, Autoimmune|Thrombocytopenia|Agranulocytosis|Genetic Predisposition to Disease	6	6p22.3	TPMT	18236523	18263353		Tamori, A.  et al. 2007	17241387	Toll-like receptor 4 Asp299Gly			Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Liver Int    2007    27(1)    95-100	Thiopurine S-methyltransferase gene polymorphism in Japanese patients with autoimmune liver diseases		187680		CDC	2007	TPMT*3C variants are more frequent in patients with AIH or PBC than in patients with viral hepatitis or healthy volunteers in Japan. Pharmacogenetic screening for TPMT polymorphisms before commencing azathioprine therapy may help to prevent severe hematotoxicity in patients with TPMT deficiency.											
154820		leukemia neutropenia	CANCER	CAN	Neutropenia|Genetic Predisposition to Disease	6	6p22.3	TPMT	18236523	18263353		Tumer, T. B.  et al. 2007	17617792				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Caucasian;French;Italian;Turkish;Asian		CDC GDP info	7172	Hs.444319			Am J Hematol    2007	The low frequency of defective TPMT alleles in Turkish population		187680		CDC	2007												
154821	Y	hypothyroidism	METABOLIC	MET	Thyroid Dysgenesis	2	2p25	TPO	1396241	1525502		Avbelj, M.  et al. 2007	17468186				Thyroid peroxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000547.3			CDC GDP info	7173	Hs.467554			Eur J Endocrinol    2007    156(5)    511-519	High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis		606765		CDC	2007	The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies.											
154822		mastocytosis	OTHER	OTH	Mastocytosis|Mastocytosis, Cutaneous|Mastocytosis, Systemic	16	16p13.3	TPSAB1	1218336	1220186		Akin, C.  et al. 2007	17449330				Tryptase alpha/beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC038416			CDC GDP info	7177	Hs.405479			Clin Immunol    2007	Tryptase haplotype in mastocytosis		191080		CDC	2007												
154823	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q32	TRAF5	209566579	209614909		Potter, C.  et al. 2007	17277003				TNF receptor-associated factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB000509			CDC GDP info	7188	Hs.523930			Ann Rheum Dis    2007	Investigation of association between the TRAF family genes and RA susceptibility		602356		CDC	2007	These findings provide evidence for the association of a SNP upstream of a strong candidate RA susceptibility gene, TRAF5, in a large cohort of patients and controls.											
154825	P		NORMALVARIATION	NV		7	7q34	TRBV20-1				Bonfigli, S.  et al. 2007	17462510				T cell receptor beta variable 20-1		Caucasian;Sardinian		CDC GDP info	28567				Hum Immunol    2007    68(5)    426-9	High Frequency of the TCRBV20S1 Null Allele in the Sardinian Population				CDC	2007												
154826		lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	10	10p15.1	TRDMT1	17224987	17283687		Matakidou, A.  et al. 2007	17533396				TRNA aspartic acid methyltransferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537961	Caucasian		CDC GDP info	1787	Hs.351665			Br J Cancer    2007	Prognostic significance of folate metabolism polymorphisms for lung cancer				CDC	2007												
154827	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3q13.3-q21	TRH	131176252	131179470		Kokubo, Y.  et al. 2006	17137217				Thyrotropin-releasing hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007117			CDC GDP info	7200	Hs.182231			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		275120		CDC	2006												
154828		HIV	INFECTION	INF	HIV Infections|Disease Susceptibility	11	11p15	TRIM5	5641363	5916425		Javanbakht, H.  et al. 2006	16887163				Tripartite motif-containing 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647152			CDC GDP info	85363	Hs.370515			Virology    2006	Effects of human TRIM5alpha polymorphisms on antiretroviral function and susceptibility to human immunodeficiency virus infection		608487		CDC	2006												
154830	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders	21	21q22.3	TRPM2	44594473	44687392		Roche, S.  et al. 2007	17525977				Transient receptor potential cation channel, subfamily M, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003307.3			CDC GDP info	7226	Hs.369759			Am J Med Genet B Neuropsychiatr Genet    2007	Candidate gene analysis of 21q22		603749		CDC	2007	our findings suggest that variants within the S100B gene predispose to a psychotic subtype of BPAD, possibly via alteration of gene expression.											
154832		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis|Genetic Predisposition to Disease	16	16p13.3	TSC2	2037990	2078714		Au, K. S.  et al. 2007	17304050				Tuberous sclerosis 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000548			CDC GDP info	7249	Hs.90303			Genet Med    2007    9(2)    88-100	Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States		191092		CDC	2007												
154833		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		1	1p13	TSHB	115373937	115378464		Comings, D. E.  et al. 2000	11140838				Thyroid stimulating hormone, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000549.2			CDC GDP info	7252	Hs.406687			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		188540		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
154834		hypothyroidism	METABOLIC	MET	Hypothyroidism	14	14q31	TSHR	80491621	80682399		Teofoli, F.  et al. 2007	17392608				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDP info	7253	Hs.160411			J Endocrinol Invest    2007    30(2)    163-6	Lack of association between thyrotropin receptor gene polymorphisms and subclinical hypothyroidism in children		603372		CDC	2007	we analyzed 7 polymorphic variants of TSHR gene in subclinical hypothyroidism.											
154836	Y	insulin	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	14	14q31	TSHR	80491621	80682399		Peeters, R. P.  et al. 2007	17408423				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDP info	7253	Hs.160411			Clin Endocrinol (Oxf)    2007	The Asp727Glu polymorphism in the TSH receptor is associated with insulin resistance in healthy elderly men		603372		CDC	2007	In this population of nondiabetic elderly men, serum thyroid parameters and the TSHR-Asp727Glu polymorphism were associated with relative insulin resistance. Our study suggests that genetic variation in TSHR plays a role in insulin resistance and thereby influences glucose metabolism.											
154837		graves' ophthalmopathy	VISION	VIS	Graves Ophthalmopathy|Genetic Predisposition to Disease	14	14q31	TSHR	80491621	80682399		Bednarczuk, T.  et al. 2007	17521325				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2			CDC GDP info	7253	Hs.160411			Clin Endocrinol (Oxf)    2007	Susceptibility genes in Graves' ophthalmopathy		603372		CDC	2007												
154838		panic disorder	PSYCH	PSY	Genetic Predisposition to Disease|Panic Disorder	22	22q13.31	TSPO	41877478	41889192		Nakamura, K.  et al. 2006	16511838				Translocator protein (18kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM924710			CDC GDP info	706	Hs.202			Am J Med Genet B Neuropsychiatr Genet    2006	Evidence that variation in the peripheral benzodiazepine receptor (PBR) gene influences susceptibility to panic disorder				CDC	2006												
154839	N	sudden infant death	OTHER	OTH	Gonadal Dysgenesis|Sudden Infant Death	6	6q22-q23	TSPYL1	116704438	116707824			16418600				TSPY-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003309	German		CDC GDP info	7259	Hs.458358			Genet Med    2006    8(1)    55-8	Genetic investigation of the TSPYL1 gene in sudden infant death syndrome		604714		CDC	2006	No association of sequence variations in the TSPYL1 gene and SIDS has been found in a German cohort.											
154841		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	6	6q13-q21	TTK	80771077	80808958		Lo, Y. L.  et al. 2007	17210994				TTK protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003318			CDC GDP info	7272	Hs.169840			Carcinogenesis    2007	Breast Cancer Risk Associated with Genotypic Polymorphism of the Mitotic Checkpoint Genes		604092		CDC	2007												
154842		breast cancer	CANCER	CAN		6	6q13-q21	TTK	80771077	80808958		Vaclavicek, A.  et al. 2007	17268814				TTK protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003318	German		CDC GDP info	7272	Hs.169840			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		604092		CDC	2007												
154843		body mass obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Body Weight	11	11p15.5	TUB	8016755	8084228		Shiri-Sverdlov, R.  et al. 2006	16443771				Tubby homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003320			CDC GDP info	7275	Hs.568986			Diabetes    2006    55(2)    385-9	Identification of TUB as a Novel Candidate Gene Influencing Body Weight in Humans				CDC	2006												
154844	Y	brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Subarachnoid Hemorrhage|Thrombosis|Genetic Predisposition to Disease	6	6p21.33	TUBB	30796135	30801174		Navarro-Nunez, L.  et al. 2007	17488662				Tubulin, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178014.2			CDC GDP info	203068	Hs.533059			Haematologica    2007    92(4)    513-8	The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men		191130		CDC	2007	This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans.											
154845	Y	craniosynostosis	OTHER	OTH	Craniosynostoses	7	7p21.2	TWIST1	19121615	19123820		Seto, M. L.  et al. 2007	17343269				Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000474.3			CDC GDP info	7291	Hs.66744			Am J Med Genet A    2007	Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations		601622		CDC	2007												
154846		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	9	9q31	TXN	112046130	112058654			16424062				Thioredoxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM810480			CDC GDP info	7295	Hs.435136			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		187700		CDC	2006												
154847		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	9	9q31	TXN	112046130	112058654		Oestergaard, M. Z.  et al. 2006	16868544				Thioredoxin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM810480			CDC GDP info	7295	Hs.435136			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		187700		CDC	2006												
154848		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q13.1	TXN2	35193038	35207633			16424062				Thioredoxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123361			CDC GDP info	25828	Hs.211929			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer				CDC	2006												
154849		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	22	22q13.1	TXN2	35193038	35207633		Oestergaard, M. Z.  et al. 2006	16868544				Thioredoxin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123361			CDC GDP info	25828	Hs.211929			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk				CDC	2006												
154850		osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	7		TXNDC3	37854723	37906527		Loughlin, J.  et al. 2007	17304710				Thioredoxin domain containing 3 (spermatozoa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016616.2			CDC GDP info	51314	Hs.134079			Am J Hum Genet    2007    80(2)    383-6; author reply 386-7	Genetic association analysis of RHOB and TXNDC3 in osteoarthritis		607421		CDC	2007												
154851	Y	blood pressure, arterial hypertriglyceridemia	CARDIOVASCULAR	CARD	Diabetic Angiopathies|Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	1		TXNIP	144149867	144153985		van Greevenbroek, M. M.  et al. 2007	17381501				Thioredoxin interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006472.1			CDC GDP info	10628	Hs.533977			Diabet Med    2007	Genetic variation in thioredoxin interacting protein (TXNIP) is associated with hypertriglyceridaemia and blood pressure in diabetes mellitus		606599		CDC	2007	This is the first report to implicate TXNIP in a human disorder of energy metabolism, Type 2 diabetes.		glucose									
154852		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q23-q24.1	TXNRD1	103130617	103268192			16424062				Thioredoxin reductase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003330			CDC GDP info	7296	Hs.696144			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		601112		CDC	2006												
154854		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21	TXNRD2	18243039	18309359			16424062				Thioredoxin reductase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB051439			CDC GDP info	10587	Hs.443430			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		606448		CDC	2006												
154855		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	22	22q11.21	TXNRD2	18243039	18309359		Oestergaard, M. Z.  et al. 2006	16868544				Thioredoxin reductase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB051439			CDC GDP info	10587	Hs.443430			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		606448		CDC	2006												
154857		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	19	19p13.2	TYK2	10322208	10352211		Sigurdsson, S.  et al. 2007	17599733			promoter	Tyrosine kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003331			CDC GDP info	7297	Hs.75516			Arthritis Rheum    2007    56(7)    2202-2210	Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis		176941		CDC	2007	Given the fact that anti-CCP-negative RA differs from anti-CCP-positive RA with respect to genetic and environmental risk factor profiles, our results indicate that genetic variants of IRF5 contribute to a unique disease etiology and pathogenesis in anti-CCP-negative RA.											
154858		breast cancer estrogen progesterone	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492			16328059				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Oncol Rep    2006    15(1)    221-5	Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in human breast cancer		188350		CDC	2006												
154860		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492			16424979			3' untranslated region	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			J Hum Genet    2006	Polymorphism in the 3'-untranslated region of the thymidylate synthase gene and sensitivity of stomach cancer to fluoropyrimidine-based chemotherapy		188350		CDC	2006			5-flurouracil									
154861		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	18	18p11.32	TYMS	647650	663492			16447238				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Arthritis Rheum    2006    54(2)    607-12	Risk genotypes in folate-dependent enzymes and their association with methotrexate-related side effects in rheumatoid arthritis		188350		CDC	2006	These data suggest that a composite index of the cumulative risk genotypes in folate-dependent enzymes may be an effective means of profiling RA patients who develop side effects to MTX.											
154862	N	gastrointestinal toxicity	PHARMACOGENOMIC	PHARM	Carcinoma|Colorectal Neoplasms|Neutropenia|Fatigue|Diarrhea|Vomiting	18	18p11.32	TYMS	647650	663492		Massacesi, C.  et al. 2006	16456808			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Cancer    2006	Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy		188350		CDC	2006	In the current study, UGT1A1 promoter polymorphism was found to be predictive of the risk of diarrhea, emesis, and fatigue caused by chemotherapy with irinotecan and raltitrexed.		Irinotecan raltitrexed									
154863		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Dotor, E.  et al. 2006	16575011				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			J Clin Oncol    2006    24(10)    1603-11	Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving Fluorouracil-based adjuvant treatment		188350		CDC	2006	Tumor TS 1494del6 genotype may be a prognostic factor in FU-based adjuvant treatment of colorectal cancer patients.		fluorouracil leucovorin levamisole									
154864		chromosomal damage	OTHER	OTH	DNA Damage	18	18p11.32	TYMS	647650	663492		Ishikawa, H.  et al. 2006	16580699				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Mutat Res    2006	A polymorphism of the methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers		188350		CDC	2006			smoking (tobacco)									
154865	Y	head and neck cancer	PHARMACOGENOMIC	PHARM	Head and Neck Neoplasms	18	18p11.32	TYMS	647650	663492		Kiss-Laszlo, Z.  et al. 2006	16617381			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Magy Onkol    2006    50(1)    33-7	Thymidylate synthase gene promoter polymorphism in advanced head and neck cancer treated by radio- and 5-fluorouracil chemotherapy.		188350		CDC	2006	We did not find any correlation between patient\s data and response to therapy, but strong correlation was found between the latter and the patient\s genotype. This facts indicate that the analysis of promoter polymorphism of thymidylate synthase gene might be a useful target to examine before FURA-based chemotherapy, and might allow to go into the direction		5-flurouracil radiation									
154866		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Ruzzo, A.  et al. 2006	16622263				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		188350		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
154867	P		NORMALVARIATION	NV		18	18p11.32	TYMS	647650	663492		Acuna, M.  et al. 2006	16722845				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Caucasian;European;Indian		CDC GDP info	7298	Hs.592338			Br J Clin Pharmacol    2006    61(6)    778-82	Genetic variants in the enhancer region of the thymidylate synthase gene in the Chilean population		188350		CDC	2006	Our results are unexpected, considering that genetic markers in the Chilean population generally show allele frequencies between those observed in European Caucasians and Amerindians and that the percentage of Amerindian admixture in CLC is lower than in HSJ.											
154868		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Zhai, X.  et al. 2006	16723031				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1		China	CDC GDP info	7298	Hs.592338			BMC Cancer    2006    6(1)    138	Polymorphisms in thymidylate synthase gene and susceptibility to breast cancer in a Chinese population		188350		CDC	2006	These findings suggest that the TS3\-UTR del6 polymorphism may play a role in the etiology of breast cancer. Further larger population-based studies as well as functional evaluation of the variants are warranted to confirm our findings.											
154869		graft-versus-host disease	IMMUNE	IMM	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Graft vs Host Disease|Acute Disease|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Robien, K.  et al. 2006	16920564				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Biol Blood Marrow Transplant    2006    12(9)    973-80	Methylenetetrahydrofolate Reductase and Thymidylate Synthase Genotypes and Risk of Acute Graft-versus-Host Disease Following Hematopoietic Cell Transplantation for Chronic Myelogenous Leukemia		188350		CDC	2006												
154871		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	18	18p11.32	TYMS	647650	663492		Largillier, R.  et al. 2006	17000685				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Clin Cancer Res    2006    12(18)    5496-502	Pharmacogenetics of capecitabine in advanced breast cancer patients		188350		CDC	2006	The present data suggest that 3RG3RG breast cancer patients are not good candidates for capecitabine therapy.		capecitabine									
154873	P		NORMALVARIATION	NV		18	18p11.32	TYMS	647650	663492		Inoue, S.  et al. 2007	17187508				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Japanese;Caucasian		CDC GDP info	7298	Hs.592338			Pharmacogenomics    2007    8(1)    41-47	Pharmacogenetic study of methylenetetrahydrofolate reductase and thymidylate synthase in Japanese and assessment of ethnic and gender differences		188350		CDC	2007	Ethnic and gender variations in the distribution of these allelic frequencies may associate with the difference in the effects of methotrexate in rheumatoid arthritis patients.											
154874		cholangiocarcinoma homocysteine	CANCER	CAN	Cholangiocarcinoma|Bile Duct Neoplasms	18	18p11.32	TYMS	647650	663492		Ko, K. H.  et al. 2006	17201138				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Anticancer Res    2006    26(6B)    4229-33	Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population		188350		CDC	2006	Our data suggest a role of MTHFR 677CC with the TSER 2R(+) genotype in increasing the risk of CCC. This study is the first to suggest an association between CCC and the polymorphisms of MTHFR and TSER.											
154875		5-fluorouracil- related toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	18	18p11.32	TYMS	647650	663492		Salgado, J.  et al. 2007	17203168				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Oncol Rep    2007    17(2)    325-8	Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer		188350		CDC	2007												
154876		cancer	CANCER	CAN	Neoplasms	18	18p11.32	TYMS	647650	663492		Kim, S. R.  et al. 2006	17220568				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Asian		CDC GDP info	7298	Hs.592338			Drug Metab Pharmacokinet    2006    21(6)    509-16	Fourteen Novel Genetic Variations and Haplotype Structures of the TYMS Gene Encoding Human Thymidylate Synthase (TS)		188350		CDC	2006												
154877		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Martinez-Balibrea, E.  et al. 2007	17273745				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Oncol Rep    2007    17(3)    637-45	Combined analysis of genetic polymorphisms in thymidylate synthase, uridine diphosphate glucoronosyltransferase and X-ray cross complementing factor 1 genes as a prognostic factor in advanced colorectal cancer patients treated with 5-fluorouracil plus oxa		188350		CDC	2007			5-flurouracil Irinotecan oxaliplatin									
154878		colorectal cancer	CANCER	CAN	Colonic Neoplasms|Microsatellite Instability	18	18p11.32	TYMS	647650	663492		Curtin, K.  et al. 2007	17290389				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Int J Cancer    2007	Thymidylate synthase polymorphisms and colon cancer		188350		CDC	2007												
154879		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Moore, L. E.  et al. 2007	17311259				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		188350		CDC	2007			diet									
154880		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Bolufer, P.  et al. 2007	17367411				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		188350		CDC	2007												
154881		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Xu, X.  et al. 2007	17372271				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Carcinogenesis    2007	Polymorphisms of One-carbon Metabolizing Genes and Risk of Breast Cancer in a Population-based Study		188350		CDC	2007			folate vitamins									
154882		leukemia	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Giovannetti, E.  et al. 2007	17395259			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Leuk Res    2007	Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemia		188350		CDC	2007												
154883	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Psoriasis	18	18p11.32	TYMS	647650	663492		Campalani, E.  et al. 2007	17410198				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			J Invest Dermatol    2007	Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis		188350		CDC	2007												
154884		5-fluorouracil toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	18	18p11.32	TYMS	647650	663492		Cho, H. J.  et al. 2007	17417073				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Korean		CDC GDP info	7298	Hs.592338			Ther Drug Monit    2007    29(2)    190-196	Thymidylate Synthase (TYMS) and Dihydropyrimidine Dehydrogenase (DPYD) Polymorphisms in the Korean Population for Prediction of 5-Fluorouracil-Associated Toxicity		188350		CDC	2007												
154885	N	folate, erythrocyte homocysteine thromboembolism, venous	METABOLIC	MET	Venous Thrombosis|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Gellekink, H.  et al. 2007	17439323				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Clin Chem Lab Med    2007    45(4)    471-6	Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous thrombosis		188350		CDC	2007												
154886		colorectal cancer	CANCER	CAN	Colonic Neoplasms	18	18p11.32	TYMS	647650	663492		Curtin, K.  et al. 2007	17449906				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Carcinogenesis    2007	Genetic polymorphisms in one-carbon metabolism		188350		CDC	2007			alcohol folate methionine Vitamin B12									
154887		leukemia	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Petra, B. G.  et al. 2007	17454638				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Leuk Lymphoma    2007    48(4)    786-92	Gene - gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children		188350		CDC	2007												
154888		multiple myeloma	CANCER	CAN		18	18p11.32	TYMS	647650	663492		Maggini, V.  et al. 2007	17512053				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Leuk Res    2007	Response to chemotherapy and tandem autologous transplantation of multiple myeloma patients and GSTP1 and TYMS polymorphisms		188350		CDC	2007			chemotherapy									
154889		multiple myeloma	CANCER	CAN	Multiple Myeloma|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Kim, H. N.  et al. 2007	17546637				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1	Korean		CDC GDP info	7298	Hs.592338			Am J Hematol    2007	Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma		188350		CDC	2007												
154890		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colonic Neoplasms|Disease Progression	18	18p11.32	TYMS	647650	663492		Prall, F.  et al. 2007	17549369			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Oncol Rep    2007    18(1)    203-9	Do thymidylate synthase gene promoter polymorphism and the C/G single nucleotide polymorphism predict effectiveness of adjuvant 5-fluorouracil-based chemotherapy in stage III colonic adenocarcinoma?		188350		CDC	2007			5-flurouracil									
154892		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Recurrence	18	18p11.32	TYMS	647650	663492		Pare, L.  et al. 2007	17581305				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Anticancer Drugs    2007    18(7)    821-825	Influence of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms on the disease-free survival of breast cancer patients receiving adjuvant 5-fluorouracil/methotrexate-based therapy		188350		CDC	2007			5-flurouracil methotrexate									
154893		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	18	18p11.32	TYMS	647650	663492		Suzuki, T.  et al. 2007	17596206				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Cancer Sci    2007	One-carbon metabolism-related gene polymorphisms and risk of head and neck squamous cell carcinoma		188350		CDC	2007			alcohol folate smoking (tobacco)									
154894		Hermansky-Pudlak syndrome	DEVELOPMENTAL	DEV	Albinism, Oculocutaneous|Hermanski-Pudlak Syndrome	11	11q14-q21	TYR	88550687	88668575			16417222				Tyrosinase (oculocutaneous albinism IA)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000372.3			CDC GDP info	7299	Hs.503555			J Invest Dermatol    2006    126(1)    85-90	Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico		606933		CDC	2006												
154896	Y	metabolic syndrome	METABOLIC	MET	Diabetes Mellitus|Metabolic Syndrome X|Obesity	19	19p13.3	UBL5	9799567	9801797		Bozaoglu, K.  et al. 2006	17036923				Ubiquitin-like 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024292.2	Indian;Mexican;Mexican American;Asian		CDC GDP info	59286	Hs.534477			Hum Biol    2006    78(2)    147-59	Association of genetic variation within UBL5 with phenotypes of metabolic syndrome		606849		CDC	2006												
154897		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Nerve Degeneration	9	9q22	UBQLN1	85464698	85512773		Bensemain, F.  et al. 2006	16504527				Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3	French		CDC GDP info	29979	Hs.9589			Neurobiol Dis    2006	Association study of the Ubiquilin gene with Alzheimer's disease		605046		CDC	2006												
154898	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	9	9q22	UBQLN1	85464698	85512773			16526030				Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3			CDC GDP info	29979	Hs.9589			Am J Med Genet B Neuropsychiatr Genet    2006	Lack of association between UBQLN1 and Alzheimer disease		605046		CDC	2006												
154899	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q22	UBQLN1	85464698	85512773		Sundar, P. D.  et al. 2006	16725228				Ubiquilin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013438.3			CDC GDP info	29979	Hs.9589			Neurobiol Aging    2006	Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease		605046		CDC	2006												
154901		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p14	UCHL1	40953685	40965203		Healy, D. G.  et al. 2006	16450370				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3	Asian		CDC GDP info	7345	Hs.518731			Ann Neurol    2006	UCHL-1 is not a Parkinson's disease susceptibility gene		191342		CDC	2006												
154902	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	4	4p14	UCHL1	40953685	40965203		Xue, S.  et al. 2006	16626667				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3		China	CDC GDP info	7345	Hs.518731			Brain Res    2006	Genetic association between Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism and sporadic Alzheimer's disease in a Chinese Han population		191342		CDC	2006												
154903		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	4	4p14	UCHL1	40953685	40965203		Forero, D. A.  et al. 2006	16698101				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDP info	7345	Hs.518731			Neurosci Res    2006	Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia		191342		CDC	2006												
154904	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity|Genetic Predisposition to Disease	4	4q28-q31	UCP1	141700499	141709457		Fukuyama, K.  et al. 2006	16338218				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3		Japan	CDC GDP info	7350	Hs.249211			Biochem Biophys Res Commun    2006    339(4)    1212-6	Association of the -112A>C polymorphism of the uncoupling protein 1 gene with insulin resistance in Japanese individuals with type 2 diabetes		113730		CDC	2006												
154905		blood pressure, arterial cholesterol cholesterol, HDL cholesterol, LDL dyslipidemia retinopathy, diabetic triglycerides	CARDIOVASCULAR	CARD	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Dyslipidemias	4	4q28-q31	UCP1	141700499	141709457		Zietz, B.  et al. 2006	16896567				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	German		CDC GDP info	7350	Hs.249211			Med Klin (Munich)    2006    101(8)    605-16	Candidate genes and polymorphism analysis in type 2 diabetes mellitus.		113730		CDC	2006	An accumulation of certain genotypes of candidate genes for diabetes mellitus type 2 is associated with the severity of dyslipidemia and microvascular late complications, e.											
154906		body mass	METABOLIC	MET	Obesity	4	4q28-q31	UCP1	141700499	141709457		Nakano, T.  et al. 2006	16953057				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDP info	7350	Hs.249211			J Med Invest    2006    53(3-4)    218-22	A/G heterozygote of the A-3826G polymorphism in the UCP-1 gene has higher BMI than A/A and G/G homozygote in young Japanese males		113730		CDC	2006												
154907	Y	body mass insulin waist circumference	METABOLIC	MET		4	4q28-q31	UCP1	141700499	141709457		Sale, M. M.  et al. 2007	17397545				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDP info	7350	Hs.249211			BMC Endocr Disord    2007    7(1)    1	The uncoupling protein 1 gene, UCP1, is expressed in mammalian islet cells and associated with acute insulin response to glucose in African American families from the IRAS Family Study		113730		CDC	2007	This study suggests a functional variant of UCP1 contributes to the variance of AIRg in an AA population; the plausibility of this unexpected association is supported by the novel finding that UCP1 is expressed in islets.											
154908		body mass diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Insulin Resistance	4	4q28-q31	UCP1	141700499	141709457		Sramkova, D.  et al. 2007	17516293				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3			CDC GDP info	7350	Hs.249211			Exp Clin Endocrinol Diabetes    2007    115(5)    303-7	The UCP1 Gene Polymorphism A-3826G in Relation to DM2 and Body Composition in Czech Population		113730		CDC	2007												
154909		obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Zurbano, R.  et al. 2006	16562813				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			Nutr Hosp    2006    21(1)    52-6	Influence of the -866G/A polymorphism of the UCP2 gene on an obese pediatric population		601693		CDC	2006	Subjects carrying the polymorphism present higher values of tricipital and subscapular skinfolds as compared to non-mutant subjects, which may indicate a relationship between the presence of the A allele in obese children and higher amounts of subcutaneous fat.											
154910	Y	leptin	METABOLIC	MET	Metabolic Syndrome X|Obesity	11	11q13	UCP2	73363363	73371537		Yanagisawa, Y.  et al. 2006	16622580				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Asian	Thailand	CDC GDP info	7351	Hs.80658			J Nutr Health Aging    2006    10(3)    176-82	Leptin resistance conferred by a combination of single nucleotide polymorphism and the adoption of a Western lifestyle in urban areas of Thailand		601693		CDC	2006	Urban women with del/del type of UCP2 exhibited significant leptin resistance. A combination of urbanization and UCP2 genotype were considered to be responsible.											
154911	Y	body mass	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Cardiovascular Diseases	11	11q13	UCP2	73363363	73371537		Wang, X.  et al. 2006	16982633	UCP2 del/del			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Caucasian		CDC GDP info	7351	Hs.80658			Nephrol Dial Transplant    2006	Changes in fat mass after initiation of maintenance dialysis is influenced by the uncoupling protein 2 exon 8 insertion/deletion polymorphism		601693		CDC	2006	PD patients, but not HD patients, with the UCP2 del/del genotype showed a significant increase in total and truncal fat mass during the first year of dialysis therapy, suggesting a possible role for UCP2 in dissipating the excess energy of a high-glucose environment.											
154912	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q13	UCP2	73363363	73371537		Yasuno, K.  et al. 2006	17066476				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			Am J Med Genet B Neuropsychiatr Genet    2006	Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia		601693		CDC	2006												
154913		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	11	11q13	UCP2	73363363	73371537		Humphries, S. E.  et al. 2006	17130180				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		601693		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
154914		body mass insulin waist circumference	METABOLIC	MET		11	11q13	UCP2	73363363	73371537		Sale, M. M.  et al. 2007	17397545				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			BMC Endocr Disord    2007    7(1)    1	The uncoupling protein 1 gene, UCP1, is expressed in mammalian islet cells and associated with acute insulin response to glucose in African American families from the IRAS Family Study		601693		CDC	2007	This study suggests a functional variant of UCP1 contributes to the variance of AIRg in an AA population; the plausibility of this unexpected association is supported by the novel finding that UCP1 is expressed in islets.											
154915	Y	cholesterol, HDL	METABOLIC	MET		11	11q13	UCP2	73363363	73371537		Cha, M. H.  et al. 2007	17512314				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Korean		CDC GDP info	7351	Hs.80658			Metabolism    2007    56(6)    806-13	Association of UCP2 and UCP3 gene polymorphisms with serum high-density lipoprotein cholesterol among Korean women		601693		CDC	2007												
154918		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Lyssenko, V.  et al. 2005	17570749				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			PLoS Med    2005    2(12)    e345	Genetic prediction of future type 2 diabetes		601693		CDC	2005	We demonstrate in a large prospective study that variants in the PPARG and CAPN10 genes predict future T2D.		body mass glucose									
154919	N	leptin	METABOLIC	MET	Metabolic Syndrome X|Obesity	11	11q13	UCP3	73388984	73397778		Yanagisawa, Y.  et al. 2006	16622580				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Asian	Thailand	CDC GDP info	7352	Hs.101337			J Nutr Health Aging    2006    10(3)    176-82	Leptin resistance conferred by a combination of single nucleotide polymorphism and the adoption of a Western lifestyle in urban areas of Thailand		602044		CDC	2006	Urban women with del/del type of UCP2 exhibited significant leptin resistance. A combination of urbanization and UCP2 genotype were considered to be responsible.											
154920		body mass weight loss	METABOLIC	MET	Obesity|Weight Loss	11	11q13	UCP3	73388984	73397778		Cha, M. H.  et al. 2006	16631432				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Korean		CDC GDP info	7352	Hs.101337			Metabolism    2006    55(5)    578-86	The effects of uncoupling protein 3 haplotypes on obesity phenotypes and very low-energy diet-induced changes among overweight Korean female subjects		602044		CDC	2006			diet									
154921	Y	stroke, hemorrhagic stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Cerebral Infarction|Intracranial Hemorrhages|Atherosclerosis|Thrombosis|Genetic Predisposition to Disease	11	11q13	UCP3	73388984	73397778		Yamada, Y.  et al. 2006	16741147	UCP3   -55C-->T			Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDP info	7352	Hs.101337			Arterioscler Thromb Vasc Biol    2006	Genetic Risk for Ischemic and Hemorrhagic Stroke		602044		CDC	2006	IL6 genotype may be useful in assessing the genetic risk for atherothrombotic cerebral infarction and intracerebral hemorrhage, and genotypes for UCP3, TNF, and PKD1-like may be similarly beneficial in assessment of the risk for subarachnoid hemorrhage. Validation of our findings will require additional studies with independent subject panels.											
154922		diabetes, type 2	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q13	UCP3	73388984	73397778		Pinelli, M.  et al. 2006	17150099				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDP info	7352	Hs.101337			BMC Med Genet    2006    7(1)    85	beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus		602044		CDC	2006	Although our results should be confirmed by further studies, our data suggests that, when properly evaluated, it is possible to identify genetic factors that could influence the effect of common risk factors.		obesity									
154924	Y	cholesterol, HDL	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Cha, M. H.  et al. 2007	17512314				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2	Korean		CDC GDP info	7352	Hs.101337			Metabolism    2007    56(6)    806-13	Association of UCP2 and UCP3 gene polymorphisms with serum high-density lipoprotein cholesterol among Korean women		602044		CDC	2007												
154925		fat reduction obesity	METABOLIC	MET	Obesity	11	11q13	UCP3	73388984	73397778		Yoon, Y.  et al. 2007	17544366				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDP info	7352	Hs.101337			Biochem Biophys Res Commun    2007	Effects of genetic polymorphisms of UCP2 and UCP3 on very low calorie diet-induced body fat reduction in Korean female subjects		602044		CDC	2007			diet									
154926	N	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A10	234191029	234346690		Minami, H.  et al. 2007	17558305				UDP glucuronosyltransferase 1 family, polypeptide A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Asian		CDC GDP info	54575	Hs.554822			Pharmacogenet Genomics    2007    17(7)    497-504	Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese		606435		CDC	2007	The haplotypes significantly associated with reduced area under concentration curve ratios and neutropenia contained UGT1A1*6 or *28, and both of them should be genotyped before irinotecan is given to Japanese and probably other Asian patients.											
154927	Y	gastrointestinal toxicity	PHARMACOGENOMIC	PHARM	Carcinoma|Colorectal Neoplasms|Neutropenia|Fatigue|Diarrhea|Vomiting	2	2q37	UGT1A1	234191029	234346690		Massacesi, C.  et al. 2006	16456808			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Cancer    2006	Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy		191740		CDC	2006	In the current study, UGT1A1 promoter polymorphism was found to be predictive of the risk of diarrhea, emesis, and fatigue caused by chemotherapy with irinotecan and raltitrexed.		Irinotecan raltitrexed									
154928	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Katz, D. A.  et al. 2006	16513443				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		191740		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
154929	Y	cholelithiasis	METABOLIC	MET	Gallstones|Cystic Fibrosis|Gilbert Disease|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Wasmuth, H. E.  et al. 2006	16557566				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Hepatology    2006    43(4)    738-741	Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis		191740		CDC	2006	the Gilbert UGT1A1 allele increases the risk of gallstone formation in CF.											
154930	Y	bilirubin	PHARMACOGENOMIC	PHARM	HIV Infections|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Boyd, M. A.  et al. 2006	16609363	UGT1A1*6   UGT1A1*6/*28			UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian;Thai	Thailand	CDC GDP info	54658	Hs.554822			Pharmacogenet Genomics    2006    16(5)    321-329	Relationship between hyperbilirubinaemia and UDP-glucuronosyltransferase 1A1 (UGT1A1) polymorphism in adult HIV-infected Thai patients treated with indinavir		191740		CDC	2006	In contrast to Caucasian HIV-infected patients treated with indinavir, the promoter polymorphism (UGT1A1*28) is of less significance than the coding region (UGT1A1*6) mutation as a risk factor for hyperbilirubinaemia. The Ki values determined for indinavir inhibition of UGT1A1 are consistent with an interaction in vivo, with an additive effect in patients with already impaired bilirubin glucuronidation activity.		indinavir ritonavir									
154931		Gilbert syndrome	METABOLIC	MET	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Farheen, S.  et al. 2006	16610035				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			World J Gastroenterol    2006    12(14)    2269-75	Gilbert's syndrome		191740		CDC	2006	The genetic epidemiology of GS is variable across ethnic groups and the epistatic interactions among UGT1A1 promoter variants modulate bilirubin glucuronidation.											
154932	Y	irinotecan pharmacokinetics lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	2	2q37	UGT1A1	234191029	234346690		Han, J. Y.  et al. 2006	16636344				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Korean		CDC GDP info	54658	Hs.554822			J Clin Oncol    2006	Comprehensive Analysis of UGT1A Polymorphisms Predictive for Pharmacokinetics and Treatment Outcome in Patients With Non-Small-Cell Lung Cancer Treated With Irinotecan and Cisplatin		191740		CDC	2006	These findings suggest that UGT1A1*6 and UGT1A9*22 genotypes may be important for SN-38 glucuronidation and associate with irinotecan-related severe toxicity. Specifically, UGT1A1*6 might be useful for predicting tumor response and survival outcome of Korean patients with NSCLC treated with irinotecan-based chemotherapy.		cisplatin Irinotecan									
154933	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Cell Transformation, Neoplastic	2	2q37	UGT1A1	234191029	234346690			16637266				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Russian	Russia	CDC GDP info	54658	Hs.554822			Mol Biol (Mosk)    2006    40(2)    263-70	Association of polymorphisms in SULT1A1 and UGT1A1 Genes with breast cancer risk and phenotypes in Russian women		191740		CDC	2006												
154934	P		NORMALVARIATION	NV		2	2q37	UGT1A1	234191029	234346690		Bosch, T. M.  et al. 2006	16771603				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDP info	54658	Hs.554822			Mol Diagn Ther    2006    10(3)    175-85	Pharmacogenetic screening for polymorphisms in drug-metabolizing enzymes and drug transporters in a dutch population		191740		CDC	2006	In this Dutch population, the frequencies of 16 new SNPs and those of previously recognized SNPs were determined in genes coding for drug-metabolizing enzymes and drug transporters. Several LDs and haplotypes were also inferred. These data are important for further research to help explain the interindividual pharmacokinetic and pharmacodynamic variability i											
154935		bilirubin indinavir oral clearance lamivudine-triphosphate concentration zidovudine-triphosphate concentration	PHARMACOGENOMIC	PHARM	HIV Infections	2	2q37	UGT1A1	234191029	234346690		Anderson, P. L.  et al. 2006	16791115				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Acquir Immune Defic Syndr    2006	Pharmacogenetic Characteristics of Indinavir, Zidovudine, and Lamivudine Therapy in HIV-Infected Adults		191740		CDC	2006												
154936		Gilbert syndrome	METABOLIC	MET	Hyperbilirubinemia, Hereditary|Gilbert Disease|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Ferraris, A.  et al. 2006	16792515				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian;Italian	Italy	CDC GDP info	54658	Hs.554822			Genet Test    2006    10(2)    121-5	Combined Test for UGT1A1 -3279T-->G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients		191740		CDC	2006												
154937		colorectal cancer irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Neoplasm Metastasis	2	2q37	UGT1A1	234191029	234346690		Toffoli, G.  et al. 2006	16809730				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Clin Oncol    2006    24(19)    3061-8	The role of UGT1A1*28 polymorphism in the pharmacodynamics and pharmacokinetics of irinotecan in patients with metastatic colorectal cancer		191740		CDC	2006	The results indicate that UGT1A1*28 polymorphism is of some relevance to toxicity; however, it is less important than discussed in previous smaller trials. In particular, the possibility of a dose reduction for irinotecan in patients with a UGT1A1*28 polymorphism is not supported by the result of this analysis.		fluorouracil Irinotecan leucovorin									
154938	Y	carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Takekuma, Y.  et al. 2006	16849011				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Pharm Pharm Sci    2006    9(1)    101-12	Contribution of polymorphisms in UDP-glucuronosyltransferase and CYP2D6 to the individual variation in disposition of carvedilol		191740		CDC	2006	Polymorphisms of UGT1A1, UGT2B7 and CYP2D6 strongly affect the pharmacokinetics and disposition of carvedilol in Japanese.											
154939	N	1-hyrdoxypyrene glucuronide concentrations	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Abnet, C. C.  et al. 2006	16864595				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		Brazil	CDC GDP info	54658	Hs.554822			Carcinogenesis    2006	The influence of genetic polymorphisms in Ahr, CYP1A1, CYP1A2, CYP1B1, GST M1, GST T1, and UGT1A1 on urine 1-hyrdoxypyrene glucuronide concentrations in healthy subjects from Rio Grande do Sul, Brazil		191740		CDC	2006												
154940		chemotherapy toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Liver Neoplasms	2	2q37	UGT1A1	234191029	234346690		Romero, R. Z.  et al. 2006	16865249				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Oncol Rep    2006    16(3)    497-503	Potential application of GSTT1-null genotype in predicting toxicity associated to 5-fluouracil irinotecan and leucovorin regimen in advanced stage colorectal cancer patients		191740		CDC	2006												
154941	P	bilirubin	HEMATOLOGICAL	HEM		2	2q37	UGT1A1	234191029	234346690		Mercke Odeberg, J.  et al. 2006	16909274				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Eur J Clin Pharmacol    2006	UGT1A polymorphisms in a Swedish cohort and a human diversity panel, and the relation to bilirubin plasma levels in males and females		191740		CDC	2006	In a Swedish cohort, several genetic variants in the UGT1A gene are common, but prevalence in a population may differ because of ethnicity.											
154943		irinotecan toxicity	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A1	234191029	234346690		Araki, K.  et al. 2006	16965601				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Asian		CDC GDP info	54658	Hs.554822			Cancer Sci    2006	Pharmacogenetic impact of polymorphisms in the coding region of the UGT1A1 gene on SN-38 glucuronidation in Japanese patients with cancer		191740		CDC	2006												
154945	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Coronary Disease	2	2q37	UGT1A1	234191029	234346690		Lin, J. P.  et al. 2006	17000907	UGT1A1*28			UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822	protective		Circulation    2006	Association Between the UGT1A1*28 Allele, Bilirubin Levels, and Coronary Heart Disease in the Framingham Heart Study		191740		CDC	2006	Homozygote UGT1A1*28 allele carriers with higher serum bilirubin concentrations exhibit a strong association with lower risk of CVD.											
154946		bilirubin	HEMATOLOGICAL	HEM	Gastrointestinal Diseases|Bone Marrow Diseases|Genetic Predisposition to Disease|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Zhang, A.  et al. 2006	17060921				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Pharmacogenomics J    2006	Intra-ethnic differences in genetic variants of the UGT-glucuronosyltransferase 1A1 gene in Chinese populations		191740		CDC	2006												
154947	N	myocardial infarct	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	2	2q37	UGT1A1	234191029	234346690		Gajdos, V.  et al. 2006	17138857	UGT1A1*28			UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Clin Chem    2006    52(12)    2313-4	Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease		191740		CDC	2006												
154948		jaundice, neonatal	METABOLIC	MET	Jaundice, Neonatal	2	2q37	UGT1A1	234191029	234346690		Muslu, N.  et al. 2006	17166930			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Trop Pediatr    2006	The Frequency of UDP-Glucuronosyltransferase 1A1 Promoter Region (TA)7 Polymorphism in Newborns and it's Relation with Jaundice		191740		CDC	2006												
154949		irinotecan-related diarrhea	PHARMACOGENOMIC	PHARM	Diarrhea	2	2q37	UGT1A1	234191029	234346690		de Jong, F. A.  et al. 2007	17185998				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDP info	54658	Hs.554822			Clin Pharmacol Ther    2007    81(1)    42-9	Irinotecan-induced Diarrhea		191740		CDC	2007												
154951	P	bilirubin	HEMATOLOGICAL	HEM	Gilbert Disease	2	2q37	UGT1A1	234191029	234346690		Ostanek, B.  et al. 2006	17196409			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian		CDC GDP info	54658	Hs.554822			Blood Cells Mol Dis    2006	UGT1A1(TA)(n) promoter polymorphism-A new case of a (TA)(8) allele in Caucasians		191740		CDC	2006	the frequency of UGT1A1(TA)n promoter polymorphism genotypes was determined for the first time in the Slovenian population and is similar to frequencies observed in other Caucasian populations.											
154952		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	2	2q37	UGT1A1	234191029	234346690		Martinez-Balibrea, E.  et al. 2007	17273745				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Oncol Rep    2007    17(3)    637-45	Combined analysis of genetic polymorphisms in thymidylate synthase, uridine diphosphate glucoronosyltransferase and X-ray cross complementing factor 1 genes as a prognostic factor in advanced colorectal cancer patients treated with 5-fluorouracil plus oxa		191740		CDC	2007			5-flurouracil Irinotecan oxaliplatin									
154954		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	2	2q37	UGT1A1	234191029	234346690		Holt, S. K.  et al. 2007	17372243				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Caucasian	United States	CDC GDP info	54658	Hs.554822			Cancer Epidemiol Biomarkers Prev    2007    16(3)    481-9	Ovarian cancer risk and polymorphisms involved in estrogen catabolism		191740		CDC	2007												
154955	Y	bilirubin	HEMATOLOGICAL	HEM		2	2q37	UGT1A1	234191029	234346690		Chang, J. L.  et al. 2007	17374650				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Nutr    2007    137(4)    890-7	UGT1A1 Polymorphism Is Associated with Serum Bilirubin Concentrations in a Randomized, Controlled, Fruit and Vegetable Feeding Trial		191740		CDC	2007			diet									
154956	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A1	234191029	234346690		Fujita, K. I.  et al. 2007	17406868				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Cancer Chemother Pharmacol    2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6 is associated with reduced activity for SN-38 in Japanese patients with cancer		191740		CDC	2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6, related to reduced catalytic and transcriptional activities of UGTs, is associated with the decreased glucuronosyltransferase activity for SN-38 in Japanese patients with cancer.											
154957		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	2	2q37	UGT1A1	234191029	234346690		Pillot, G. A.  et al. 2006	17409981				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		191740		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
154959		bilirubin	HEMATOLOGICAL	HEM		2	2q37	UGT1A1	234191029	234346690		Hong, A. L.  et al. 2007	17478602				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	African American;Caucasian		CDC GDP info	54658	Hs.554822			Drug Metab Dispos    2007	UDP-Glucuronosyltransferase 1A1 Gene Polymorphisms and Total Bilirubin Levels in an Ethnically Diverse Cohort of Women		191740		CDC	2007												
154961	Y	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	2	2q37	UGT1A1	234191029	234346690		Cote, J. F.  et al. 2007	17510208				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Clin Cancer Res    2007	UGT1A1 Polymorphism Can Predict Hematologic Toxicity in Patients Treated with Irinotecan		191740		CDC	2007	This study supports the clinical utility of identification of UGT1A1 promoter polymorphisms before LV5FU2 + CPT-11 treatment to predict early hematologic toxicity. The -3156G>A polymorphism seems to be a better predictor than the UGT1A1 (TA)(6)TAA>(TA)(7)TAA polymorphism.											
154962		colorectal cancer	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A1	234191029	234346690		Ruzzo, A.  et al. 2007	17549067				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		191740		CDC	2007			5-flurouracil Irinotecan									
154963	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A1	234191029	234346690		Minami, H.  et al. 2007	17558305				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409	Asian		CDC GDP info	54658	Hs.554822			Pharmacogenet Genomics    2007    17(7)    497-504	Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese		191740		CDC	2007	The haplotypes significantly associated with reduced area under concentration curve ratios and neutropenia contained UGT1A1*6 or *28, and both of them should be genotyped before irinotecan is given to Japanese and probably other Asian patients.											
154965		bilirubin cholelithiasis	HEMATOLOGICAL	HEM	Gallstones|Anemia, Sickle Cell|Hemoglobin SC Disease|alpha-Thalassemia	2	2q37	UGT1A1	234191029	234346690		Vasavda, N.  et al. 2007	17593033				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Br J Haematol    2007    138(2)    263-70	The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease		191740		CDC	2007			bilirubin									
154966		hyperbilirubinemia	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Recurrence|Hyperbilirubinemia	2	2q37	UGT1A1	234191029	234346690		Singer, J. B.  et al. 2007	17611564			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Leukemia    2007	UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia		191740		CDC	2007			nilotinib									
154967	P		NORMALVARIATION	NV		2	2q37	UGT1A3	234191029	234346690		Chen, Y.  et al. 2006	16738032				UDP glycosyltransferase 1 family, polypeptide A3		Chinese;Caucasian;German		CDC GDP info	54659	HS.278896			Drug Metab Dispos    2006    34(9)    1462-7	Genetic variants of human UGT1A3		606428		CDC	2006												
154968	N	gastrointestingal health	PHARMACOGENOMIC	PHARM	Gastrointestinal Diseases|Cardiovascular Diseases|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		van Oijen, M. G.  et al. 2005	16305586				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54578	Hs.554822			Br J Clin Pharmacol    2005    60(6)    623-8	Polymorphisms in genes encoding acetylsalicylic acid metabolizing enzymes are unrelated to upper gastrointestinal health in cardiovascular patients on acetylsalicylic acid		606431		CDC	2005	There was no association between polymorphisms in genes encoding for acetylsalicylic acid metabolizing enzymes on the prevalence of gastric complaints in cardiovascular patients on acetylsalicylic acid.		acetylsalicyclic acid									
154969	N	colorectal cancer	PHARMACOGENOMIC	PHARM	Neoplasms, Glandular and Epithelial|Colonic Neoplasms|Rectal Neoplasms	2	2q37	UGT1A6	234191029	234346690		Samowitz, W. S.  et al. 2006	16797247				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54578	Hs.554822			Clin Gastroenterol Hepatol    2006	Interactions Between CYP2C9 and UGT1A6 Polymorphisms and Nonsteroidal Anti-Inflammatory Drugs in Colorectal Cancer Prevention		606431		CDC	2006	In this study, the major effect seen was an enhancement by slower-metabolizing CYP2C9 variants of the chemopreventive activity of ibuprofen against colorectal cancer.		aspirin ibuprofen nonsteroidal anti-inflammatory (NSAID)									
154970	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Neoplasm Recurrence, Local|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		Hubner, R. A.  et al. 2006	17085674				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54578	Hs.554822			Clin Cancer Res    2006    12(21)    6585-9	Genetic Variants of UGT1A6 Influence Risk of Colorectal Adenoma Recurrence		606431		CDC	2006	These findings confirm that UGT1A6 variants influence colorectal carcinogenesis independent of aspirin intake and suggest that they may have clinical value in secondary prevention programs for patients diagnosed with colorectal adenoma.		aspirin									
154971	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A6	234191029	234346690		Sun, P.  et al. 2007	17424838	UGT1A6 rs6759892 G or rs1105879 C			UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54578	Hs.554822			Wei Sheng Yan Jiu    2007    36(1)    11-5	Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning	rs6759892 G or rs1105879 C	606431		CDC	2007	The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.		smoking (tobacco)									
154972		benzene toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	2	2q37	UGT1A6	234191029	234346690		Gu, S. Y.  et al. 2007	17479406				UDP glucuronosyltransferase 1 family, polypeptide A9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		China	CDC GDP info	54578	Hs.554822			J Toxicol Environ Health A    2007    70(11)    916-24	Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population		606431		CDC	2007	our data suggested that individuals with CYP1A1 c.											
154973	Y	colorectal cancer	CANCER	CAN		2	2q37	UGT1A7	234191029	234346690		Fan, C. H.  et al. 2006	16620591				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDP info	54577	HS.278896			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(1)    13-7	Association between genetic polymorphisms of metabolic enzymes and susceptibility of colorectal cancer		606432		CDC	2006	This study suggests that CYP1A1 and UGT1A7 variants might be associated with colorectal cancer.											
154974	N	irinotecan pharmacokinetics lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	2	2q37	UGT1A7	234191029	234346690		Han, J. Y.  et al. 2006	16636344				UDP glycosyltransferase 1 family, polypeptide A7		Korean		CDC GDP info	54577	HS.278896			J Clin Oncol    2006	Comprehensive Analysis of UGT1A Polymorphisms Predictive for Pharmacokinetics and Treatment Outcome in Patients With Non-Small-Cell Lung Cancer Treated With Irinotecan and Cisplatin		606432		CDC	2006	These findings suggest that UGT1A1*6 and UGT1A9*22 genotypes may be important for SN-38 glucuronidation and associate with irinotecan-related severe toxicity. Specifically, UGT1A1*6 might be useful for predicting tumor response and survival outcome of Korean patients with NSCLC treated with irinotecan-based chemotherapy.		cisplatin Irinotecan									
154975	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Chen, K.  et al. 2006	16724991				UDP glycosyltransferase 1 family, polypeptide A7			China	CDC GDP info	54577	HS.278896			J Gastroenterol Hepatol    2006    21(6)    1036-41	Genetic polymorphisms of the uridine diphosphate glucuronosyltransferase 1A7 and colorectal cancer risk in relation to cigarette smoking and alcohol drinking in a Chinese population		606432		CDC	2006	UGT1A7 polymorphisms may have a significant modifying effect on colorectal cancer risk, which may interact with environmental factors, cigarette smoking and alcohol drinking in colorectal carcinogenesis.		alcohol smoking (tobacco)									
154976	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Piepoli, A.  et al. 2006	17072959				UDP glycosyltransferase 1 family, polypeptide A7		Italian	Italy	CDC GDP info	54577	HS.278896			World J Gastroenterol    2006    12(39)    6343-6348	Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients		606432		CDC	2006	UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.											
154978		benzene toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	2	2q37	UGT1A7	234191029	234346690		Gu, S. Y.  et al. 2007	17479406				UDP glycosyltransferase 1 family, polypeptide A7			China	CDC GDP info	54577	HS.278896			J Toxicol Environ Health A    2007    70(11)    916-24	Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population		606432		CDC	2007	our data suggested that individuals with CYP1A1 c.											
154979		mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A7	234191029	234346690		Inoue, K.  et al. 2007	17529886			Intron	UDP glycosyltransferase 1 family, polypeptide A7				CDC GDP info	54577	HS.278896			Ther Drug Monit    2007    29(3)    299-304	Influence of UGT1A7 and UGT1A9 Intronic I399 Genetic Polymorphisms on Mycophenolic Acid Pharmacokinetics in Japanese Renal Transplant Recipients		606432		CDC	2007												
154980	N	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A7	234191029	234346690		Minami, H.  et al. 2007	17558305				UDP glycosyltransferase 1 family, polypeptide A7		Asian		CDC GDP info	54577	HS.278896			Pharmacogenet Genomics    2007    17(7)    497-504	Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese		606432		CDC	2007	The haplotypes significantly associated with reduced area under concentration curve ratios and neutropenia contained UGT1A1*6 or *28, and both of them should be genotyped before irinotecan is given to Japanese and probably other Asian patients.											
154981	Y	mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A8	234191029	234346690		Levesque, E.  et al. 2007	17339869				UDP glycosyltransferase 1 family, polypeptide A8				CDC GDP info	54576	HS.278896			Clin Pharmacol Ther    2007    81(3)    392-400	The Impact of UGT1A8, UGT1A9, and UGT2B7 Genetic Polymorphisms on the Pharmacokinetic Profile of Mycophenolic Acid After a Single Oral Dose in Healthy Volunteers		606433		CDC	2007	indicate that after a single oral dose of MMF in healthy volunteers, specific UGT genotypes significantly alter MPA PKs and this clearly warrants additional studies with complete and detailed genetic profiling of UGT1A8, UGT1A9, and UGT2B7 genes.											
154982	Y	irinotecan pharmacokinetics lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	2	2q37	UGT1A9	234191029	234346690		Han, J. Y.  et al. 2006	16636344				UDP glycosyltransferase 1 family, polypeptide A9		Korean		CDC GDP info	54600	Hs.124112			J Clin Oncol    2006	Comprehensive Analysis of UGT1A Polymorphisms Predictive for Pharmacokinetics and Treatment Outcome in Patients With Non-Small-Cell Lung Cancer Treated With Irinotecan and Cisplatin		606434		CDC	2006	These findings suggest that UGT1A1*6 and UGT1A9*22 genotypes may be important for SN-38 glucuronidation and associate with irinotecan-related severe toxicity. Specifically, UGT1A1*6 might be useful for predicting tumor response and survival outcome of Korean patients with NSCLC treated with irinotecan-based chemotherapy.		cisplatin Irinotecan									
154983	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	2	2q37	UGT1A9	234191029	234346690		Piepoli, A.  et al. 2006	17072959				UDP glycosyltransferase 1 family, polypeptide A9		Italian	Italy	CDC GDP info	54600	Hs.124112			World J Gastroenterol    2006    12(39)    6343-6348	Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients		606434		CDC	2006	UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.											
154984			NORMALVARIATION	NV	Malaria	2	2q37	UGT1A9	234191029	234346690		Mehlotra, R. K.  et al. 2006	17115150				UDP glycosyltransferase 1 family, polypeptide A9		Caucasian		CDC GDP info	54600	Hs.124112			Eur J Clin Pharmacol    2006	Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations		606434		CDC	2006	Taken together, the UGT1A9-UGT2B7 polymorphism profile in WA and PNG populations is similar to African-Americans, but different from Asian-Americans. It is important to determine if these differences, along with previously reported differences in cytochrome P450 2B6 allele frequencies, are associated with altered metabolism/effectiveness of artemisinin drugs.											
154985	Y	mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A9	234191029	234346690		Levesque, E.  et al. 2007	17339869				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDP info	54600	Hs.124112			Clin Pharmacol Ther    2007    81(3)    392-400	The Impact of UGT1A8, UGT1A9, and UGT2B7 Genetic Polymorphisms on the Pharmacokinetic Profile of Mycophenolic Acid After a Single Oral Dose in Healthy Volunteers		606434		CDC	2007	indicate that after a single oral dose of MMF in healthy volunteers, specific UGT genotypes significantly alter MPA PKs and this clearly warrants additional studies with complete and detailed genetic profiling of UGT1A8, UGT1A9, and UGT2B7 genes.											
154986	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A9	234191029	234346690		Fujita, K. I.  et al. 2007	17406868				UDP glycosyltransferase 1 family, polypeptide A9				CDC GDP info	54600	Hs.124112			Cancer Chemother Pharmacol    2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6 is associated with reduced activity for SN-38 in Japanese patients with cancer		606434		CDC	2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6, related to reduced catalytic and transcriptional activities of UGTs, is associated with the decreased glucuronosyltransferase activity for SN-38 in Japanese patients with cancer.											
154988	N	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A9	234191029	234346690		Minami, H.  et al. 2007	17558305				UDP glycosyltransferase 1 family, polypeptide A9		Asian		CDC GDP info	54600	Hs.124112			Pharmacogenet Genomics    2007    17(7)    497-504	Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese		606434		CDC	2007	The haplotypes significantly associated with reduced area under concentration curve ratios and neutropenia contained UGT1A1*6 or *28, and both of them should be genotyped before irinotecan is given to Japanese and probably other Asian patients.											
154989	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B15	69194909	69218969		Katz, D. A.  et al. 2006	16513443				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDP info	7366	Hs.150207			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		600069		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
154990		prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13	UGT2B15	69194909	69218969		Okugi, H.  et al. 2006	16859836				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDP info	7366	Hs.150207			Cancer Detect Prev    2006	Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population		600069		CDC	2006	Genetic polymorphisms of the genes involved in androgen metabolism and signaling were significantly associated with familial prostate cancer risk.											
154991		breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms	4	4q13	UGT2B15	69194909	69218969		Wegman, P.  et al. 2007	17244352				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDP info	7366	Hs.150207			Breast Cancer Res    2007    9(1)    R7	Genetic variants of CYP3A5, CYP2D6, SULT1A1, UGT2B15 and tamoxifen response in postmenopausal breast cancer patients		600069		CDC	2007	The metabolism of tamoxifen is complex and the mechanisms responsible for the resistance are unlikely to be explained by a single polymorphism; instead it is a combination of several mechanisms.		tamoxifen									
154992		prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13	UGT2B15	69194909	69218969		Cunningham, J. M.  et al. 2007	17507624				UDP glucuronosyltransferase 2 family, polypeptide B15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001076.1			CDC GDP info	7366	Hs.150207			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		600069		CDC	2007												
154993	Y	testosterone	METABOLIC	MET		4	4q13	UGT2B17	69085497	69116840		Jakobsson, J.  et al. 2005	16332934				UDP glucuronosyltransferase 2 family, polypeptide B17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U59209	Swedish;Caucasian; Korean		CDC GDP info	7367	Hs.575083			J Clin Endocrinol Metab    2005	Large Differences in Testosterone Excretion in Korean and Swedish Men is Strongly Associated with an UDP-Glucuronosyl Transferase 2B17 Polymorphism		601903		CDC	2005	Our results show that the UGT2B17 polymorphism is strongly associated with the bimodal distribution of the testosterone excretion and also with the large differences in testosterone excretion between Koreans and Swedes.											
154994	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	4	4q13	UGT2B17	69085497	69116840		Park, J.  et al. 2006	16896035				UDP glucuronosyltransferase 2 family, polypeptide B17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U59209	African American;Caucasian		CDC GDP info	7367	Hs.575083			Cancer Epidemiol Biomarkers Prev    2006    15(8)    1473-8	Deletion Polymorphism of UDP-Glucuronosyltransferase 2B17 and Risk of Prostate Cancer in African American and Caucasian Men		601903		CDC	2006	These results suggest that the UGT2B17 enzyme may play a role in the metabolism of androgens in prostate tissue and that the UGT2B17 deletion polymorphism is associated with prostate cancer risk.											
154995	Y	prostate cancer	CANCER	CAN		4	4q13	UGT2B17	69085497	69116840		Karypidis, A. H.  et al. 2007	17387331				UDP glucuronosyltransferase 2 family, polypeptide B17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U59209			CDC GDP info	7367	Hs.575083			Pharmacogenomics J    2007	Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate		601903		CDC	2007	these results show the UGT2B17 deletion polymorphism is associated with prostate cancer risk.											
154996		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	4	4q13	UGT2B17	69085497	69116840		Gallagher, C. J.  et al. 2007	17416778				UDP glucuronosyltransferase 2 family, polypeptide B17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U59209		New York|Florida	CDC GDP info	7367	Hs.575083			Cancer Epidemiol Biomarkers Prev    2007    16(4)    823-8	The UDP-Glucuronosyltransferase 2B17 Gene Deletion Polymorphism		601903		CDC	2007												
154998	N	carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B4	70380472	70396205		Takekuma, Y.  et al. 2006	16849011				UDP glucuronosyltransferase 2 family, polypeptide B4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021139.1			CDC GDP info	7363	Hs.285887			J Pharm Pharm Sci    2006    9(1)    101-12	Contribution of polymorphisms in UDP-glucuronosyltransferase and CYP2D6 to the individual variation in disposition of carvedilol		600067		CDC	2006	Polymorphisms of UGT1A1, UGT2B7 and CYP2D6 strongly affect the pharmacokinetics and disposition of carvedilol in Japanese.											
154999	P		NORMALVARIATION	NV		4	4q13	UGT2B7	69996813	70013293		Saito, K.  et al. 2006	16466707				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Clin Biochem    2006	Haplotype analysis of UDP-glucuronocyltransferase 2B7 gene (UGT2B7) polymorphisms in healthy Japanese subjects		600068		CDC	2006	These results suggest that the haplotype structure in the Japanese population is different from that of other ethnic groups.											
155001		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B7	69996813	70013293		Honda, M.  et al. 2006	16595916				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		600068		CDC	2006												
155002	Y	carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B7	69996813	70013293		Takekuma, Y.  et al. 2006	16849011				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			J Pharm Pharm Sci    2006    9(1)    101-12	Contribution of polymorphisms in UDP-glucuronosyltransferase and CYP2D6 to the individual variation in disposition of carvedilol		600068		CDC	2006	Polymorphisms of UGT1A1, UGT2B7 and CYP2D6 strongly affect the pharmacokinetics and disposition of carvedilol in Japanese.											
155003	P		NORMALVARIATION	NV	Malaria	4	4q13	UGT2B7	69996813	70013293		Mehlotra, R. K.  et al. 2006	17115150				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1	Caucasian		CDC GDP info	7364	Hs.631944			Eur J Clin Pharmacol    2006	Prevalence of UGT1A9 and UGT2B7 nonsynonymous single nucleotide polymorphisms in West African, Papua New Guinean, and North American populations		600068		CDC	2006	Taken together, the UGT1A9-UGT2B7 polymorphism profile in WA and PNG populations is similar to African-Americans, but different from Asian-Americans. It is important to determine if these differences, along with previously reported differences in cytochrome P450 2B6 allele frequencies, are associated with altered metabolism/effectiveness of artemisinin drugs.											
155004	N	methadone levels	PHARMACOGENOMIC	PHARM	Opioid-Related Disorders	4	4q13	UGT2B7	69996813	70013293		Crettol, S.  et al. 2006	17178267				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Clin Pharmacol Ther    2006    80(6)    668-681	ABCB1 and cytochrome P450 genotypes and phenotypes		600068		CDC	2006	In vivo, CYP3A4 and CYP2B6 are the major CYP isoforms involved in methadone metabolism, with CYP2D6 contributing to a minor extent.											
155005	Y	hepatotoxicity, diclofenac-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Genetic Predisposition to Disease	4	4q13	UGT2B7	69996813	70013293		Daly, A. K.  et al. 2007	17241877				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Gastroenterology    2007    132(1)    272-81	Genetic Susceptibility to Diclofenac-Induced Hepatotoxicity		600068		CDC	2007	Allelic variants of UGT2B7, CYP2C8, and ABCC2, which may predispose to the formation and accumulation of reactive diclofenac metabolites are associated with diclofenac hepatotoxicity.											
155007	Y	mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B7	69996813	70013293		Levesque, E.  et al. 2007	17339869				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Clin Pharmacol Ther    2007    81(3)    392-400	The Impact of UGT1A8, UGT1A9, and UGT2B7 Genetic Polymorphisms on the Pharmacokinetic Profile of Mycophenolic Acid After a Single Oral Dose in Healthy Volunteers		600068		CDC	2007	indicate that after a single oral dose of MMF in healthy volunteers, specific UGT genotypes significantly alter MPA PKs and this clearly warrants additional studies with complete and detailed genetic profiling of UGT1A8, UGT1A9, and UGT2B7 genes.											
155008		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	4	4q13	UGT2B7	69996813	70013293		Jeannot, E.  et al. 2007	17363580				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		600068		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
155009	Y	acyl-mycophenolic acid-glucuronide	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B7	69996813	70013293		Djebli, N.  et al. 2007	17429314			promoter	UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Pharmacogenet Genomics    2007    17(5)    321-30	Influence of the UGT2B7 promoter region and exon 2 polymorphisms and comedications on Acyl-MPAG production in vitro and in adult renal transplant patients		600068		CDC	2007	Both UGT2B7 polymorphisms and co-medications significantly influenced AcMPAG production, but cyclosporin and tacrolimus hindered the phenotypic impact of this trait.		cyclosporin sirolimus tacrolimus									
155011		hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16p12.3	UMOD	20251873	20271538		Iwai, N.  et al. 2006	16982955				Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK091961			CDC GDP info	7369	Hs.654425			Hypertension    2006	Extensive Genetic Analysis of 10 Candidate Genes for Hypertension in Japanese		191845		CDC	2006												
155012		cardiovascular disease mortality, all-cause	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q22-q23	USF1	159275664	159282381		Komulainen, K.  et al. 2006	16699592				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	Finnish		CDC GDP info	7391	Hs.414880			PLoS Genet    2006    2(5)    e69	Risk Alleles of USF1 Gene Predict Cardiovascular Disease of Women in Two Prospective Studies		191523		CDC	2006												
155014		diabetes, type 2	METABOLIC	MET	Hyperlipidemia, Familial Combined|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q22-q23	USF1	159275664	159282381		Zeggini, E.  et al. 2006	16936202				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	European		CDC GDP info	7391	Hs.414880			Diabetes    2006    55(9)    2541-8	Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q		191523		CDC	2006												
155015	Y	antilipolytic insulin sensitivity	METABOLIC	MET	Insulin Resistance	1	1q22-q23	USF1	159275664	159282381		Kantartzis, K.  et al. 2006	17016691				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	Caucasian		CDC GDP info	7391	Hs.414880			J Mol Med    2006	Upstream transcription factor 1 gene polymorphisms are associated with high antilipolytic insulin sensitivity and show gene-gene interactions		191523		CDC	2006	subjects carrying the T allele of SNP usf1s1 and the A allele of SNP usf1s2 have a higher antilipolytic insulin sensitivity.											
155016	Y	body mass cardiovascular risk factors lipoprotein	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	1	1q22-q23	USF1	159275664	159282381		Choquette, A.  et al. 2007	17309647				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3	Canadian;French;Quebec		CDC GDP info	7391	Hs.414880			Clin Genet    2007    71(3)    245-53	Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study		191523		CDC	2007	significant associations between relatively common USF1 genetic variants and CVD risk factors were observed in French Canadians.											
155017	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13	USF2	40451735	40462558		Shibata, N.  et al. 2006	16870626				Upstream transcription factor 2, c-fos interacting	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003367			CDC GDP info	7392	Hs.454534			J Gerontol A Biol Sci Med Sci    2006    61(7)    660-2	Genetic Association Between USF 1 and USF 2 Gene Polymorphisms and Japanese Alzheimer's Disease		600390		CDC	2006												
155018		Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome	VISION	VIS	Retinal Degeneration|Retinitis Pigmentosa	1	1q41	USH2A	213862858	214663361		Mezer, E.  et al. 2006	16767206				Usher syndrome 2A (autosomal recessive, mild)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007123.4			CDC GDP info	7399	Hs.232072			Can J Ophthalmol    2006    41(2)    190-6	Utility of molecular testing for related retinal dystrophies		608400		CDC	2006												
155019	Y	insulin obesity	METABOLIC	MET		11	11q23.3	USP2	118732162	118757575		Wang, T. N.  et al. 2007	17502873	UCP2 A55V			Ubiquitin specific peptidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC041366			CDC GDP info	9099	Hs.524085			Int J Obes (Lond)    2007	UCP2 A55V variant is associated with obesity and related phenotypes in an aboriginal community in Taiwan				CDC	2007												
155020		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p32.3	USP24	55304619	55453350		Li, Y.  et al. 2006	16917932				Ubiquitin specific peptidase 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015306			CDC GDP info	23358	Hs.477009			Hum Mutat    2006	Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease				CDC	2006												
155021		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	2	2q37.1	USP40	234048903	234134606		Li, Y.  et al. 2006	16917932				Ubiquitin specific peptidase 40	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018218			CDC GDP info	55230	Hs.96513			Hum Mutat    2006	Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease				CDC	2006												
155022	Y	glucose tolerance insulin	METABOLIC	MET	Hypertension|Insulin Resistance	1	1p36	UTS2	7825729	7895881		Ong, K. L.  et al. 2006	16597476				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1			CDC GDP info	10911	Hs.162200			Peptides    2006	Haplotypes in the urotensin II gene and urotensin II receptor gene are associated with insulin resistance and impaired glucose tolerance		604097		CDC	2006												
155023	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36	UTS2	7825729	7895881		Yi, L.  et al. 2006	16866021				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1			CDC GDP info	10911	Hs.162200			J Int Med Res    2006    34(3)    272-83	Association of ACE, ACE2 and UTS2 polymorphisms with essential hypertension in Han and Dongxiang populations from north-western China		604097		CDC	2006												
155024	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Nishihama, K.  et al. 2007	17143557				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1			CDC GDP info	10911	Hs.162200			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		604097		CDC	2007			diabetes hypercholesterolemia hypertension									
155026	Y	glucose tolerance insulin	METABOLIC	MET	Hypertension|Insulin Resistance	17	17q25.3	UTS2R	77925489	77926659		Ong, K. L.  et al. 2006	16597476				Urotensin 2 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018949			CDC GDP info	2837	Hs.192720			Peptides    2006	Haplotypes in the urotensin II gene and urotensin II receptor gene are associated with insulin resistance and impaired glucose tolerance				CDC	2006												
155027	N	depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	17	17p13.1	VAMP2	8003188	8007017		Saito, S.  et al. 2007	17356306				Vesicle-associated membrane protein 2 (synaptobrevin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014232			CDC GDP info	6844	Hs.25348			Neuropsychobiology    2007    54(4)    226-230	Association Study between Vesicle-Associated Membrane Protein 2 Gene Polymorphisms and Fluvoxamine Response in Japanese Major Depressive Patients		185881		CDC	2007	Our results suggest that the VAMP2 gene is unlikely to play a major role in the efficacy of fluvoxamine.		fluvoxamine									
155028	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	2	2p12-p11.2	VAMP8	85658227	85662665		Shiffman, D.  et al. 2006	16690874				Vesicle-associated membrane protein 8 (endobrevin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003761.2			CDC GDP info	8673	Hs.534373			Arterioscler Thromb Vasc Biol    2006	Gene Variants of VAMP8 and HNRPUL1 Are Associated With Early-Onset Myocardial Infarction		603177		CDC	2006	Variants in 2 genes were associated with early-onset MI: VAMP8, which is involved in platelet degranulation, and HNRPUL1, which encodes a ribonuclear protein. The identification of these variants could improve understanding of disease mechanisms and suggest novel drug targets.											
155029	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	20	20q13.33	VAPB	56397650	56455369		Conforti, F. L.  et al. 2006	16729899				VAMP (vesicle-associated membrane protein)-associated protein B and C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004738			CDC GDP info	9217	Hs.182625			J Negat Results Biomed    2006    5(1)    7	Sporadic ALS is not associated with VAPB gene mutations in Southern Italy		605704		CDC	2006	our study suggests that VAPB mutations are not a common cause of adult-onset SALS.											
155030		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2p13	VAX2	70981227	71014083		Beaty, T. H.  et al. 2006	16953426				Ventral anterior homeobox 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012476	Singapore		CDC GDP info	25806	Hs.249170			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		604295		CDC	2006												
155031		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	1	1p32-p31	VCAM1	100957884	100977189		Krueger, M.  et al. 2006	16893383				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDP info	7412	Hs.109225			Int J Immunogenet    2006    33(4)    233-235	Genetic polymorphisms of adhesion molecules in children with severe RSV-associated diseases		192225		CDC	2006												
155033		brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	5	5q14.3	VCAN	82803338	82912737		Ruigrok, Y. M.  et al. 2006	16917090				Versican	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004385			CDC GDP info	1462	Hs.695930			Stroke    2006	The Versican Gene and the Risk of Intracranial Aneurysms				CDC	2006	SNPs in strong linkage disequilibrium and haplotypes constituting these SNPs in the versican gene are associated with IAs suggesting that variation in or near the versican gene plays a role in susceptibility to IAs.											
155035		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Valdes, A. M.  et al. 2006	16453284				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Great Britain	CDC GDP info	7421	Hs.524368			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		601769		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
155036	Y	prostatic hyperplasia	OTHER	OTH	Prostatic Hyperplasia	12	12q12-q14	VDR	46521586	46585081		Mullan, R. J.  et al. 2006	16461080				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Urology    2006    67(2)    300-5	Growth factor, cytokine, and vitamin D receptor polymorphisms and risk of benign prostatic hyperplasia in a community-based cohort of men		601769		CDC	2006	These findings suggest that transforming growth factor-beta 1, tumor necrosis factor-alpha, epidermal growth factor receptor, and vitamin D receptor polymorphisms may be involved in the pathogenesis of BPH.											
155037		creatinine kidney function lead toxicity	METABOLIC	MET	Kidney Diseases|Lead Poisoning	12	12q12-q14	VDR	46521586	46585081		Weaver, V. M.  et al. 2006	16487505				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Korean	Korea	CDC GDP info	7421	Hs.524368			Environ Res    2006	Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers		601769		CDC	2006	VDR and/or ALAD genotypes modified associations between all the lead biomarkers, except patella lead, and the renal outcomes.		lead									
155038		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	12	12q12-q14	VDR	46521586	46585081		Slattery, M. L.  et al. 2006	16489531				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376		Minnesota|California|Utah	CDC GDP info	7421	Hs.524368			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		601769		CDC	2006			ibuprofen-type drugs									
155040	P		NORMALVARIATION	NV		12	12q12-q14	VDR	46521586	46585081		Xing, S.  et al. 2006	16604508				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    236-7	Polymorphism of vitamin D receptor gene Fok I in Mongolian population of China.		601769		CDC	2006	The polymorphism frequency and distribution of this VDR gene Fok I in Mongolian population of China exhibit its own characteristics.											
155041		breast cancer fibroadenoma	CANCER	CAN	Fibroadenoma|Breast Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Corder, E. H.  et al. 2006	16608396				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Rejuvenation Res    2006    9(1)    56-60	Multilocus genotypes spanning estrogen metabolism associated with breast cancer and fibroadenoma		601769		CDC	2006	GoM latent classification may be useful to identify genetic risk sets and estimate risk for individuals.											
155043	N	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Lau, H. H.  et al. 2006	16622736				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		601769		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
155044		tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Freidin, M. B.  et al. 2006	16637265				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Russian	Siberia	CDC GDP info	7421	Hs.524368			Mol Biol (Mosk)    2006    40(2)    252-62	A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians		601769		CDC	2006												
155046	N	osteoporosis	METABOLIC	MET	Osteoporosis|Cystic Fibrosis	12	12q12-q14	VDR	46521586	46585081		Castellani, C.  et al. 2006	16713399				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			J Cyst Fibros    2006	The genetic background of osteoporosis in cystic fibrosis		601769		CDC	2006	There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.											
155047	Y	hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Shan, J.  et al. 2006	16733893				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    148-53	Relationship between polymorphisms of vitamin D receptor gene and familial aggregation of HBsAg carriers		601769		CDC	2006	VDR-Taq I and -Fok I gene polymorphisms are likely to play a substantial role in HBsAg familial aggregation.											
155048	N	bone density	METABOLIC	MET		12	12q12-q14	VDR	46521586	46585081		Dong, J.  et al. 2006	16758971				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Wei Sheng Yan Jiu    2006    35(2)    196-200	Association of bone mineral density with gene polymorphisms and environmental factors in Chinese postmenopausal women		601769		CDC	2006	BMD was not associated with ER genotype but with VDR Bsm I polymorphism.											
155049		bone density calcium phosphorus	METABOLIC	MET	Vitamin D Deficiency	12	12q12-q14	VDR	46521586	46585081		Rao Vupputuri, M.  et al. 2006	16762954				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Indian;Asian	India	CDC GDP info	7421	Hs.524368			Am J Clin Nutr    2006    83(6)    1411-9	Prevalence and functional significance of 25-hydroxyvitamin D deficiency and vitamin D receptor gene polymorphisms in Asian Indians		601769		CDC	2006	Functionally significant 25(OH)D deficiency affecting BMD at the hip region is prevalent in urban Asian Indians.											
155051	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Lombard, Z.  et al. 2006	16916662	VDR haplotype F-b-A-T			Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368	protection malaria		Hum Immunol    2006    67(8)    643-54	Association of HLA-DR, -DQ, and Vitamin D Receptor Alleles and Haplotypes with Tuberculosis in the Venda of South Africa		601769		CDC	2006	common African HLA-DRB1 and -DQB1 variants, previously associated with protection from malaria and hepatitis B/C virus persistence, predispose the Venda to TB, whereas the proposedly active VDR haplotype F-b-A-T showed significant protection.											
155052	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Andersson, P.  et al. 2006	17010601				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Eur J Cancer    2006	Androgen receptor and vitamin D receptor gene polymorphisms and prostate cancer risk		601769		CDC	2006	men with a short CAG repeat in the androgen receptor gene have an increased risk of developing prostate cancer.											
155053	Y	betaCL osteocalcin	IMMUNE	IMM	Bone Diseases, Metabolic|Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081			17019952				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Ter Arkh    2006    78(3)    17-20	Relations between VDR3 and COL1A1 genes and markers of bone tissue metabolism in patients with chronic obstructive pulmonary disease		601769		CDC	2006	Testing of VDR3 and COL1A1 genes gives grounds for detection of predisposition to development of pulmonogenic osteopenic syndrome.											
155054	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	12	12q12-q14	VDR	46521586	46585081		Li, J. H.  et al. 2006	17064588				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhonghua Yi Xue Za Zhi    2006    86(28)    1952-6	Association of Taq I T/C and Fok I C/T polymorphisms of vitamin D receptor gene with outcome of hepatitis B virus infection		601769		CDC	2006	VDR gene polymorphism is probably an influence factor on the genetic susceptibility of HBV infection.											
155055	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	12	12q12-q14	VDR	46521586	46585081		Garcia, D.  et al. 2006	17129633				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Diabetes Res Clin Pract    2006	VDR polymorphisms influence the immune response in type 1 diabetic children from Santiago, Chile		601769		CDC	2006	We found an association between a VDR polymorphism (BsmI) and type 1 diabetes.											
155058		gastrointestinal toxicity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute|Drug Toxicity	12	12q12-q14	VDR	46521586	46585081		Kishi, S.  et al. 2007	17264302				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Blood    2007	Ancestry and pharmacogenetics of antileukemic drug toxicity		601769		CDC	2007			chemotherapy									
155059	Y	rickets	IMMUNE	IMM		12	12q12-q14	VDR	46521586	46585081		Lu, J. J.  et al. 2007	17349151				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhonghua Er Ke Za Zhi    2007    45(1)    46-9	Association of the vitamin D receptor gene start codon polymorphism with delayed rickets		601769		CDC	2007	There is the possibility that the VDRSC polymorphism might be important in determining the hereditary susceptibility of children to development of delayed rickets.											
155060		aseptic loosening post hip replacement osteolysis	METABOLIC	MET	Prosthesis-Related Infections|Osteolysis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Malik, M. H.  et al. 2007	17363400				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Caucasian		CDC GDP info	7421	Hs.524368			Ann Rheum Dis    2007	Genetic susceptibility to total hip replacement failure- Preliminary study on the influence of matrix metalloproteinase-1, interleukin-6 and vitamin D receptor polymorphisms		601769		CDC	2007	Aseptic loosening and possibly deep infection of THR may be due to the genetic influence of candidate susceptibility genes.											
155061		periodontitis	IMMUNE	IMM	Periodontitis|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Nibali, L.  et al. 2007	17452560				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			J Dent Res    2007    86(5)    416-20	Gene polymorphisms and the prevalence of key periodontal pathogens		601769		CDC	2007			microbiota									
155063		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Olesen, R.  et al. 2007	17611589				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Genes Immun    2007	DC-SIGN (CD209), pentraxin 3 and vitamin D receptor gene variants associate with pulmonary tuberculosis risk in West Africans		601769		CDC	2007												
155064	Y	renal disease, end stage vascular endothelial growth factor	RENAL	REN	Kidney Failure, Chronic|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201			16421229				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366		Japan	CDC GDP info	7422	Hs.73793			J Am Soc Nephrol    2006	Functional Polymorphisms in the Vascular Endothelial Growth Factor Gene Are Associated with Development of End-Stage Renal Disease in Males		192240		CDC	2006												
155065		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	6	6p12	VEGFA	43845930	43862201		Monzo, M.  et al. 2006	16507781				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	French		CDC GDP info	7422	Hs.73793			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		192240		CDC	2006			chemotherapy									
155066		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	6	6p12	VEGFA	43845930	43862201		Banyasz, I.  et al. 2006	16517614				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Mol Hum Reprod    2006	Genetic polymorphisms of vascular endothelial growth factor in severe pre-eclampsia		192240		CDC	2006												
155067	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	6	6p12	VEGFA	43845930	43862201		Chow KM, et al. Ren Fail. 2006;28(1):15-20.	16526314				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Ren Fail    2006    28(1)    15-20	Genetic polymorphism of vascular endothelial growth factor		192240		CDC	2006	Our preliminary results raise the concern that the CC genotype of the VEGF promoter at -2578 position might be associated with increased risk of renal progression in patients with IgA nephropathy.											
155069	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Septal Defects|Endocardial Cushion Defects|Heart Valve Diseases	6	6p12	VEGFA	43845930	43862201		Vannay, A.  et al. 2006	16569553				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Am Heart J    2006    151(4)    878-81	Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects		192240		CDC	2006	VEGF gene and allele associations may be associated with increased risk of CHD.											
155070		dementia, vascular	PSYCH	PSY	Dementia, Vascular	6	6p12	VEGFA	43845930	43862201		Kim, Y.  et al. 2006	16583410				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Korean		CDC GDP info	7422	Hs.73793			Am J Med Genet B Neuropsychiatr Genet    2006	Haplotype analysis of single nucleotide polymorphisms in VEGF gene for vascular dementia		192240		CDC	2006												
155072		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Barile, S.  et al. 2006	16630077				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Exp Dermatol    2006    15(5)    368-76	Vascular endothelial growth factor gene polymorphisms increase the risk to develop psoriasis		192240		CDC	2006			family history									
155073	P	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Suganthalakshmi, B.  et al. 2006	16636650				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Indian		CDC GDP info	7422	Hs.73793			Mol Vis    2006    12    336-41	Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy		192240		CDC	2006	This is the first study to report VEGF and eNOS gene polymorphisms in patients with DR in the Indian population.											
155074	Y	kawasaki disease	IMMUNE	IMM	Mucocutaneous Lymph Node Syndrome	6	6p12	VEGFA	43845930	43862201		Breunis, W. B.  et al. 2006	16645995				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian		CDC GDP info	7422	Hs.73793			Arthritis Rheum    2006    54(5)    1588-1594	Vascular endothelial growth factor gene haplotypes in Kawasaki disease		192240		CDC	2006	Our results suggest that polymorphisms of the VEGF gene may play a role in the pathogenesis of KD.											
155075		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Freathy, R. M.  et al. 2006	16685110				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian		CDC GDP info	7422	Hs.73793			JOP    2006    7(3)    295-302	Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population		192240		CDC	2006	This is the first large-scale study to examine the association between common functional variation in VEGF and type 2 diabetes risk. We have found no evidence that these three single nucleotide polymorphisms, shown previously to alter VEGF concentrations, are risk factors for type 2 diabetes in a large UK Caucasian case-control and family-based study.											
155077	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Allanore, Y.  et al. 2006	16740682				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian;European		CDC GDP info	7422	Hs.73793			Ann Rheum Dis    2006	Lack of association between 3 vascular endothelial growth factor gene polymorphisms and systemic sclerosis		192240		CDC	2006	This study shows that there is no association between the three selected functional VEGF polymorphisms and SSc.											
155078	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	6	6p12	VEGFA	43845930	43862201		Zhang, Y.  et al. 2006	16753977				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Chinese;Caucasian	China	CDC GDP info	7422	Hs.73793			Amyotroph Lateral Scler Other Motor Neuron Disord    2006    7(2)    119-22	VEGF C2578A polymorphism does not contribute to amyotrophic lateral sclerosis susceptibility in sporadic Chinese patients		192240		CDC	2006												
155080		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	6	6p12	VEGFA	43845930	43862201		Zhang, W.  et al. 2006	16788380				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		192240		CDC	2006			cetuximab									
155081	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Fernandez-Santiago, R.  et al. 2006	16801663				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	European;German	Germany	CDC GDP info	7422	Hs.73793			Neurology    2006    66(12)    1929-31	Possible gender-dependent association of vascular endothelial growth factor (VEGF) gene and ALS		192240		CDC	2006												
155082		retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity	6	6p12	VEGFA	43845930	43862201		Banyasz, I.  et al. 2006	16877277				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Curr Eye Res    2006    31(7)    685-90	Genetic polymorphisms of vascular endothelial growth factor and angiopoietin 2 in retinopathy of prematurity		192240		CDC	2006												
155083	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	6	6p12	VEGFA	43845930	43862201		Chen, W.  et al. 2006	16894118			promoter	Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Neurology    2006    67(3)    508-10	Lack of association of VEGF promoter polymorphisms with sporadic ALS		192240		CDC	2006												
155085	Y	SIDS/sudden infant death syndrome	OTHER	OTH	Sudden Infant Death|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Dashash, M.  et al. 2006	16916659				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Hum Immunol    2006    67(8)    627-33	Association of sudden infant death syndrome with VEGF and IL-6 gene polymorphisms		192240		CDC	2006												
155086	Y	macular degeneration	VISION	VIS	Macular Degeneration|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Churchill, A. J.  et al. 2006	16940309				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Hum Mol Genet    2006	VEGF Polymorphisms are Associated with Neovascular Age-related Macular Degeneration		192240		CDC	2006												
155088	N	asthma, toluene diisocyanate-induced	IMMUNE	IMM	Asthma|Occupational Diseases|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Ye, Y. M.  et al. 2006	16961715				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Clin Exp Allergy    2006    36(9)    1153-60	Relationship between neurokinin 2 receptor gene polymorphisms and serum vascular endothelial growth factor levels in patients with toluene diisocyanate-induced asthma		192240		CDC	2006	The NK2R 7853GG genotype may contribute to increased serum VEGF levels, which result in airway inflammation after TDI exposure.											
155089		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Gerger, A.  et al. 2006	17058024				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Breast Cancer Res Treat    2006	A multigenic approach to predict breast cancer risk		192240		CDC	2006												
155090		Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	6	6p12	VEGFA	43845930	43862201		Chiappelli, M.  et al. 2006	17105389				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Rejuvenation Res    2006    9(4)    485-493	VEGF Gene and Phenotype Relation with Alzheimer's Disease and Mild Cognitive Impairment		192240		CDC	2006												
155091	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Lymphatic Metastasis|Disease Progression|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Tzanakis, N.  et al. 2006	17111394				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Greek		CDC GDP info	7422	Hs.73793			J Surg Oncol    2006    94(7)    624-630	Vascular endothelial growth factor polymorphisms in gastric cancer development, prognosis, and survival		192240		CDC	2006	The present study suggests that VEGF polymorphisms may contribute to gastric tumor characteristics; these observations, however, requiring further confirmation in a larger multi-ethnic study.											
155093	N	retinopathy of prematurity	VISION	VIS	Retinopathy of Prematurity|Genetic Predisposition to Disease|Diseases in Twins|Birth Weight	6	6p12	VEGFA	43845930	43862201		Shastry, B. S.  et al. 2006	17119993			promoter	Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Graefes Arch Clin Exp Ophthalmol    2006	Lack of association of the VEGF gene promoter (-634 G-->C and -460 C-->T) polymorphism and the risk of advanced retinopathy of prematurity		192240		CDC	2006	Our results do not support the association of the VEGF gene promoter polymorphism and the risk of advanced ROP.											
155094	Y	diabetes, type 2 retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Buraczynska, M.  et al. 2006	17121786				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Nephrol Dial Transplant    2006	Association of the VEGF gene polymorphism with diabetic retinopathy in type 2 diabetes patients		192240		CDC	2006	Our study suggests that the I/D polymorphism in the promoter region of the VEGF gene is associated with retinopathy but not nephropathy in type 2 diabetes patients. The multivariate logistic regression analysis showed that the D allele of the VEGF polymorphism is an independent risk factor of diabetic retinopathy after controlling for other clinical variable											
155095		heart transplant	CARDIOVASCULAR	CARD		6	6p12	VEGFA	43845930	43862201		Girnita, D. M.  et al. 2006	17198275				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Hispanic Caucasian		CDC GDP info	7422	Hs.73793			Transplantation    2006    82(12)    1774-1780	Disparate Distribution of 16 Candidate Single Nucleotide Polymorphisms Among Racial and Ethnic Groups of Pediatric Heart Transplant Patients		192240		CDC	2006	African-Americans have a genetic background that may predispose to proinflammatory/lower regulatory environment, reduced drug exposure and immunosuppressive efficacy. In this ongoing multicenter study, these gene polymorphisms differences among ethnic/racial groups are being documented so that therapeutic strategies can be devised to optimize outcomes for pe											
155096		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Butt, C.  et al. 2007	17204151				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			BMC Musculoskelet Disord    2007    8    1	VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis		192240		CDC	2007	The T allele of VEGF in +936 may act as a protective allele in the development of PsA. Further studies regarding the role of pro-angiogenic markers in PsA are warranted.											
155098		vascular endothelial growth factor concentration	NORMALVARIATION	NV		6	6p12	VEGFA	43845930	43862201		Berrahmoune, H.  et al. 2007	17227476				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Ann Hum Genet    2007    71(Pt 1)    54-63	Heritability for plasma VEGF concentration in the Stanislas family study		192240		CDC	2007												
155099	Y	diabetes, type 2 retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Errera, F. I.  et al. 2007	17259494	VEGFA  -634C			Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Brazilian;European		CDC GDP info	7422	Hs.73793			Diabetes Care    2007    30(2)    275-9	Functional Vascular Endothelial Growth Factor -634G>C SNP Is Associated With Proliferative Diabetic Retinopathy		192240		CDC	2007	The presence of the allele -634C/VEGF in homozygosity is an independent risk factor for the development of PDR in type 2 diabetic patients of European ancestry.											
155100	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Diabetes Mellitus, Type 2	6	6p12	VEGFA	43845930	43862201		Petrovic, D.  et al. 2007	17264508	VEGFA   CC genotype of the -634 C/G			Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian		CDC GDP info	7422	Hs.73793			Cardiology    2007    107(4)    291-295	Association of Vascular Endothelial Growth Factor Gene Polymorphism with Myocardial Infarction in Patients with Type 2 Diabetes		192240		CDC	2007	The present study demonstrates that the CC genotype of the -634 C/G VEGF gene might be a risk factor for MI in Caucasians with type 2 diabetes of duration of more than 10 years.											
155102	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Polterauer, S.  et al. 2007	17289129				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian		CDC GDP info	7422	Hs.73793			Gynecol Oncol    2007	Vascular endothelial growth factor gene polymorphisms in ovarian cancer		192240		CDC	2007												
155103	Y	respiratory distress syndrome	OTHER	OTH	Respiratory Distress Syndrome, Adult	6	6p12	VEGFA	43845930	43862201		Zhai, R.  et al. 2007	17289863				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Thorax    2007	Genotypes and haplotypes of VEGF gene are associated with higher ARDS Mortality and lower VEGF plasma levels		192240		CDC	2007	s VEGF polymorphisms may contribute to ARDS prognosis and inter-individual variations in circulating VEGF levels.											
155104	Y	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Hefler, L. A.  et al. 2007	17289883				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Caucasian;German		CDC GDP info	7422	Hs.73793			Clin Cancer Res    2007    13(3)    898-901	Vascular endothelial growth factor gene polymorphisms are associated with prognosis in ovarian cancer		192240		CDC	2007	We present the first data on VEGF gene polymorphisms in ovarian cancer.											
155106	Y	stomach cancer vascular endothelial growth factor levels	CANCER	CAN	Stomach Neoplasms|Lymphatic Metastasis	6	6p12	VEGFA	43845930	43862201		Nikiteas, N. I.  et al. 2007	17334712				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Gastric Cancer    2007    10(1)    12-7	Vascular endothelial growth factor and endoglin (CD-105) in gastric cancer		192240		CDC	2007	Our results support that VEGF and CD-105 are closely relevant to lymph node metastasis and act as two valuable indicators of prognosis.											
155107	N	colorectal cancer	CANCER	CAN		6	6p12	VEGFA	43845930	43862201		Wu, G. Y.  et al. 2006	17349182				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793	anastomotic leakage		Zhonghua Wai Ke Za Zhi    2006    44(21)    1505-7	Association between vascular endothelial growth factor gene 936 T/C polymorphism and colorectal cancer together with anastomotic leakage		192240		CDC	2006	VEGF 936 C/C genotype or C allele is not related to the development of colorectal cancer, but they can reduce the risk of anastomotic leakage after surgery in colorectal cancer patients.											
155109	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms	6	6p12	VEGFA	43845930	43862201		Ralph, S.  et al. 2007	17419711				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Cancer Sci    2007	Heparanase gene haplotype (CGC) is associated with stage of disease in patients with ovarian carcinoma		192240		CDC	2007												
155110	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms	6	6p12	VEGFA	43845930	43862201		Kim, J.  et al. 2007	17426061				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Ann Oncol    2007	Vascular endothelial growth factor gene polymorphisms associated with prognosis for patients with gastric cancer		192240		CDC	2007	VEGF gene polymorphisms were found to be an independent prognostic marker for patients with gastric cancer.											
155111		breast cancer vascular endothelial growth factor levels	CANCER	CAN	Breast Neoplasms	6	6p12	VEGFA	43845930	43862201		Balasubramanian, S. P.  et al. 2007	17471570				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Int J Cancer    2007	Influence of VEGF-A gene variation and protein levels in breast cancer susceptibility and severity		192240		CDC	2007												
155112	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Kim, J. G.  et al. 2007	17482599				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Korean		CDC GDP info	7422	Hs.73793			Fertil Steril    2007	Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women		192240		CDC	2007												
155113	Y	retinopathy, diabetic	VISION	VIS	Diabetic Retinopathy|Diabetes Mellitus, Type 1	6	6p12	VEGFA	43845930	43862201		Al-Kateb, H.  et al. 2007	17513698				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Diabetes    2007	Multiple variants in Vascular Endothelial Growth Factor (VEGF) are risk factors for time to severe retinopathy in type 1 diabetes		192240		CDC	2007	These data demonstrate that multiple VEGF variants are associated with the development of SR in T1D.											
155114	Y	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis	6	6p12	VEGFA	43845930	43862201		Chen, D.  et al. 2007	17538775				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Amyotroph Lateral Scler    2007    8(3)    144-9	Association of polymorphisms in vascular endothelial growth factor gene with the age of onset of amyotrophic lateral sclerosis		192240		CDC	2007	our results indicate, for the first time, that there was an important association between the polymorphism of the VEGF gene and age of ALS onset.											
155115	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Yapijakis, C.  et al. 2007	17564725				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			J Cancer Res Clin Oncol    2007	The low VEGF production allele of the +936C/T polymorphism is strongly associated with increased risk for oral cancer		192240		CDC	2007	This study clearly indicates that the low-VEGF-production T allele is strongly associated with increased risk for OSCC. In addition, the impressive T allele frequency increment in patients with a positive family cancer history suggests that this allele may also be involved in other malignancies. The fact that this significant increase was observed only in patients with early cancer stages may imply that low VEGF levels might hinder subsequent tumorigenesis. Our findings might be the result of either unidentified properties of the +936 C/T polymorphism or of a strong linkage disequilibrium between this polymorphism and another genetic locus.		family history									
155117		kidney transplant	RENAL	REN	Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Gunesacar, R.  et al. 2007	17584582				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Hum Immunol    2007    68(7)    599-602	VEGF 936 C/T gene polymorphism in renal transplant recipients		192240		CDC	2007												
155118		urinary tract infection vesicoureteral reflux	INFECTION	INF	Urinary Tract Infections|Vesico-Ureteral Reflux|Disease Progression|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Yim, H. E.  et al. 2007	17597658				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Pediatr Res    2007	Genetic Control of VEGF and TGF-beta1 Gene Polymorphisms in Childhood Urinary Tract Infection and Vesicoureteral Reflux		192240		CDC	2007												
155119	Y	diabetes, type 1 diabetic nephropathy	IMMUNE	IMM	Diabetic Nephropathies|Diabetes Mellitus, Type 1	6	6p12	VEGFA	43845930	43862201		McKnight, A. J.  et al. 2007	17616354				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Irish		CDC GDP info	7422	Hs.73793			J Diabetes Complications    2007    21(4)    242-5	Association of VEGF-1499C-->T polymorphism with diabetic nephropathy in type 1 diabetes mellitus		192240		CDC	2007												
155120		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	3	3p26-p25	VHL	10158318	10168746		van Houwelingen, K. P.  et al. 2005	15932632				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDP info	7428	Hs.517792			BMC Cancer    2005    5(1)    57	Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma		608537		CDC	2005	VHL mutations were detected in 61% of sporadic clear-cell RCC. VHL mutated and wildtype clear-cell RCC did not differ with respect to most parameters.											
155121		kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	3	3p26-p25	VHL	10158318	10168746		van Dijk, B. A.  et al. 2006	16892044				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2		Japan	CDC GDP info	7428	Hs.517792			Br J Cancer    2006    95(3)    374-7	Cigarette smoking, von Hippel-Lindau gene mutations and sporadic renal cell carcinoma		608537		CDC	2006			smoking (tobacco)									
155122		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	3	3p26-p25	VHL	10158318	10168746		Korpershoek, E.  et al. 2006	17102080				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDP info	7428	Hs.517792			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		608537		CDC	2006												
155123		brain cancer	CANCER	CAN	Hemangioblastoma|Central Nervous System Neoplasms|Hippel-lindau Disease	3	3p26-p25	VHL	10158318	10168746		Woodward, E. R.  et al. 2007	17264095				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDP info	7428	Hs.517792			Brain    2007    130(Pt 3)    836-42	VHL mutation analysis in patients with isolated central nervous system haemangioblastoma		608537		CDC	2007												
155124	Y	retinal hemangioblastomas	VISION	VIS	Hemangioma, Capillary|Retinal Neoplasms|Hippel-lindau Disease	3	3p26-p25	VHL	10158318	10168746		Wong, W. T.  et al. 2007	17296901				Von Hippel-Lindau tumor suppressor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000551.2			CDC GDP info	7428	Hs.517792			Arch Ophthalmol    2007    125(2)    239-45	Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis		608537		CDC	2007	Patients with complete deletions of VHL protein have the lowest prevalence of ocular disease and the most favorable visual outcome.											
155125		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	6	6q25	VIP	153113625	153122593		Cunningham, S.  et al. 2006	17175032				Vasoactive intestinal peptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003381	Irish;Sardinian		CDC GDP info	7432	Hs.53973			J Neuroimmunol    2006	The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis		192320		CDC	2006												
155127	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777			16424822				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Japanese;Caucasian		CDC GDP info	79001	Hs.324844			Pharmacogenet Genomics    2006    16(2)    101-110	Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans		608547		CDC	2006	Both VKORC1 and CYP2C9 polymorphisms contribute to inter-population difference in warfarin doses among the three populations, but their contribution to intra-population variability may differ within each population.											
155128	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM	Thromboembolism	16	16p11.2	VKORC1	31009675	31013777		Mushiroda, T.  et al. 2006	16432637				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			J Hum Genet    2006	Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients		608547		CDC	2006												
155129	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Lee, S. C.  et al. 2006	16513444				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Chinese;Indian;Asian	Malaysia||India|China	CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006    79(3)    197-205	Interethnic variability of warfarin maintenance requirement is explained by VKORC1 genotype in an Asian population		608547		CDC	2006	Interethnic difference in VKORC1 haplotypes accounts for the difference in warfarin requirements between Chinese, Malays, and Indians, providing interesting insights into genetic variation between ethnogeographically distinct Asian groups.											
155130	Y	aortic dissection atherosclerosis, coronary stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Coronary Disease|Vascular Diseases|Aortic Rupture|Genetic Predisposition to Disease	16	16p11.2	VKORC1	31009675	31013777		Wang, Y.  et al. 2006	16549638				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Circulation    2006	VKORC1 Haplotypes Are Associated With Arterial Vascular Diseases (Stroke, Coronary Heart Disease, and Aortic Dissection)		608547		CDC	2006	The haplotype of VKORC1 may serve as a novel genetic marker for the risk of stroke, coronary heart disease, and aortic dissection.											
155132		acenocoumarol response	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Montes, R.  et al. 2006	16611310				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Br J Haematol    2006    133(2)    183-7	The c.-1639G > A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients		608547		CDC	2006												
155133		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	16	16p11.2	VKORC1	31009675	31013777		Li, T.  et al. 2006	16611750				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	European		CDC GDP info	79001	Hs.324844			J Med Genet    2006	Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation		608547		CDC	2006	These results are of considerable clinical interest and confirm recently published results regarding the role of these two genes in modifying warfarin metabolism and maintenance dosage.											
155134		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Herman, D.  et al. 2006	16676068				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Caucasian		CDC GDP info	79001	Hs.324844			Thromb Haemost    2006    95(5)    782-7	The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement		608547		CDC	2006												
155135	Y	over anticoagulation	HEMATOLOGICAL	HEM		16	16p11.2	VKORC1	31009675	31013777		Schalekamp, T.  et al. 2006	16815313				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006    80(1)    13-22	VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status		608547		CDC	2006	Being a carrier of a combination of polymorphisms of VKORC1 and CYP2C9, rather than of one of these polymorphisms, is associated with severe overanticoagulation.		acenocoumarol									
155136		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Blood Coagulation Disorders|Vitamin K Deficiency	16	16p11.2	VKORC1	31009675	31013777		Sconce, E. A.  et al. 2006	16847429				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Pharmacogenet Genomics    2006    16(8)    609-611	APOE genotype makes a small contribution to warfarin dose requirements		608547		CDC	2006												
155137	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Osman, A.  et al. 2006	16879214	VKORC1*2			Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Swedish;Caucasian		CDC GDP info	79001	Hs.324844			J Thromb Haemost    2006    4(8)    1723-9	Main haplotypes and mutational analysis of vitamin K epoxide reductase (VKORC1) in a Swedish population		608547		CDC	2006	Our result shows that VKORC1*2 is the most important haplotype for warfarin dosage. Patients with VKORC1*2 haplotype had more frequent visits than patients with VKORC1*3 or *4 haplotypes, higher coefficient of variation (CV) of prothrombin time-INR and higher percentage of INR values outside the therapeutic interval (i.e. 2.0-3.0) than patients with VKORC1*3 or *4 haplotypes. Also, there was a statistically significant difference in warfarin dose (P < 0.001) and R-warfarin plasma levels (P < 0.01) between VKORC1*2 and VKORC1*3 or 4 haplotypes. Patients with VKORC1*2 haplotype seem to require much lower warfarin doses than other patients.											
155138	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Obayashi, K.  et al. 2006	16890578				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4		Japan	CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006    80(2)    169-78	VKORC1 gene variations are the major contributors of variation in warfarin dose in Japanese patients		608547		CDC	2006	The ethnic difference in warfarin maintenance dose was mainly dependent on the linked VKORC1 variants.											
155139	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Tham, L. S.  et al. 2006	17015052				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Asian		CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006    80(4)    346-55	A warfarin-dosing model in Asians that uses single-nucleotide polymorphisms in vitamin K epoxide reductase complex and cytochrome P450 2C9		608547		CDC	2006	Warfarin dose requirements in Asians can be accurately predicted by use of a combination of patient demographics and a simplified genotyping approach for single variants in CYP2C9 and VKORC1.											
155140	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Kosaki, K.  et al. 2006	17031720				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Pediatr Cardiol    2006	1173C>T Polymorphism in VKORC1 Modulates the Required Warfarin Dose		608547		CDC	2006												
155141	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Wadelius, M.  et al. 2006	17048007				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		608547		CDC	2006												
155142		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Cerebrovascular Accident	16	16p11.2	VKORC1	31009675	31013777		Kimura, R.  et al. 2006	17049586				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Thromb Res    2006	Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients		608547		CDC	2006												
155143	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Loebstein, R.  et al. 2006	17110455				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Ashkenazi;Jewish		CDC GDP info	79001	Hs.324844			Blood    2006	A coding VKORC1 Asp36Tyr polymorphism predisposes to warfarin resistance		608547		CDC	2006												
155144	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Carlquist, J. F.  et al. 2006	17111199				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			J Thromb Thrombolysis    2006	Genotypes of the cytochrome p450 isoform, CYP2C9, and the vitamin K epoxide reductase complex subunit 1 conjointly determine stable warfarin dose		608547		CDC	2006	In this large prospective study of warfarin genetic dose-determinants, carriage of a single or double CYP2C9 variant, reduced warfarin dose 18-72%, and of a VKORC1 variant by 65%. Genotype-based modeling explained almost one-half of dose-variance. A quantitative dosing algorithm incorporating genotypes for 2C9 and VKORC1 could substantially improve initial w											
155145		protein C protein S	CARDIOVASCULAR	CARD	Cerebrovascular Accident	16	16p11.2	VKORC1	31009675	31013777		Kimura, R.  et al. 2006	17189218				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Int J Hematol    2006    84(5)    387-97	Polymorphisms in Vitamin K-Dependent gamma-Carboxylation-Related Genes Influence Interindividual Variability in Plasma Protein C and Protein S Activities in the General Population		608547		CDC	2006												
155147		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Hamberg, A. K.  et al. 2007	17301738				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2007	A PK-PD Model for Predicting the Impact of Age, CYP2C9, and VKORC1 Genotype on Individualization of Warfarin Therapy		608547		CDC	2007												
155148		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Kimmel, S. E.  et al. 2007	17325732				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	African American;Caucasian		CDC GDP info	79001	Hs.324844			Pharmacogenomics J    2007	Apolipoprotein E genotype and warfarin dosing among Caucasians and African Americans		608547		CDC	2007												
155149		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Schelleman, H.  et al. 2007	17329985				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	African American;Caucasian		CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2007	Warfarin Response and Vitamin K Epoxide Reductase Complex 1 in African Americans and Caucasians		608547		CDC	2007												
155150	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Cho, H. J.  et al. 2007	17391071				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Caucasian;Korean;Asian		CDC GDP info	79001	Hs.324844			Pharmacogenomics    2007    8(4)    329-337	Factors affecting the interindividual variability of warfarin dose requirement in adult Korean patients		608547		CDC	2007	In the present study, we found that the VKORC1 polymorphism had a dominant genetic influence on interindividual variability for warfarin dose in Korean patients.											
155152	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Zhu, Y.  et al. 2007	17510308				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Clin Chem    2007	Estimation of Warfarin Maintenance Dose Based on VKORC1 (-1639 G>A) and CYP2C9 Genotypes		608547		CDC	2007	The VKORC1 -1639A allele accounts for low dosage requirements of most patients without a CYP2C9 variant. Higher plasma S-warfarin concentrations corresponding to increased warfarin maintenance dosages support a hypothesis for increased expression of the VKORC1 -1639G allele. VKORC1 and CYP2C9 genotypes, age, sex, and body weight account for the majority of variance in warfarin dose among our study population.											
155153		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	16	16p11.2	VKORC1	31009675	31013777		Watzka, M.  et al. 2007	17549303			promoter	Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4	Chinese;European;German		CDC GDP info	79001	Hs.324844			Thromb Haemost    2007    97(6)    998-1002	Functional promoter polymorphism in the VKORC1 gene is no major genetic determinant for coronary heart disease in Northern Germans		608547		CDC	2007	the discrepant association findings in Chinese and German populations may be explained by ethnic differences in genetic and perhaps environmental predisposition, modifying the polygenic CHD phenotype by interacting with VKORC1 variants and thus conferring disease susceptibility in some populations, but not in others.											
155154		anticoagulant response of acenocoumarol	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Gonzalez-Conejero, R.  et al. 2007	17596133				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			J Thromb Haemost    2007	The genetic interaction of VKORC1 c1173t/calumenin a29809g modulates the anticoagulant response of acenocoumarol		608547		CDC	2007	Our results suggest that CALU a29809g might be a new genetic factor involved in the pharmacogenetic of anticoagulant therapy, and confirm that specific genetic profiles defined by different polymorphisms will determine the initial response and required dose to achieve an stable and safe INR.											
155155	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q21.1	VPS26A	70553913	70602622		Riemenschneider, M.  et al. 2006	16784798				Vacuolar protein sorting 26 homolog A (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647725			CDC GDP info	9559	Hs.499925			Neurobiol Aging    2006	No association of Vacuolar protein sorting 26 polymorphisms with Alzheimer's disease		605506		CDC	2006	VPS26 can be excluded as a major positional and functional candidate gene conferring risk to AD.											
155156		von Willebrand Disease	HEMATOLOGICAL	HEM	von Willebrand Disease	12	12p13.3	VWF	5928300	6104097			16424652			Intron	Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3	Indian		CDC GDP info	7450	Hs.440848			Acta Haematol    2006    115(1-2)    64-7	Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population		193400		CDC	2006	the heterozygosity rate, i.											
155157		von Willebrand's factor levels	HEMATOLOGICAL	HEM		12	12p13.3	VWF	5928300	6104097		Davies, J. A.  et al. 2006	17119126				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDP info	7450	Hs.440848			Blood    2006	The effect of von Willebrand factor Y/C1584 on in vivo protein level and function, and interaction with ABO blood group		193400		CDC	2006												
155159		von Willebrand factor binding	HEMATOLOGICAL	HEM	Thrombocytopenia	12	12p13.3	VWF	5928300	6104097		Szanto, T.  et al. 2007	17598011				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDP info	7450	Hs.440848			Thromb Haemost    2007    98(1)    178-85	The A/T1381 polymorphism in the A1-domain of von Willebrand factor influences the affinity of von Willebrand factor for platelet glycoprotein Ibalpha		193400		CDC	2007												
155160		atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD		12	12p13.3	VWF	5928300	6104097		Pellikka, M.  et al. 2007	17619827				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3	Caucasian;Finnish		CDC GDP info	7450	Hs.440848			J Thromb Thrombolysis    2007	Platelet GPIbalpha, GPIV and vWF polymorphisms and fatal pre-hospital MI among middle-aged men		193400		CDC	2007	The combined ThrThr/TT haplotype of GPIbalpha as well as the AA genotype of GPIV seem to decrease the risk of fatal MI among men during early middle-age.											
155162	P	glaucoma	VISION	VIS	Glaucoma, Open-Angle	5	5q22.1	WDR36	110455768	110494099		Hewitt, A. W.  et al. 2006	16876519				WD repeat domain 36	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139281			CDC GDP info	134430	Hs.533237			Am J Ophthalmol    2006    142(2)    324-5	A Glaucoma Case-control Study of the WDR36 Gene D658G Sequence Variant		609669		CDC	2006	The WDR36 D658G is a neutral variant in the Australian population.											
155163	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	5	5q22.1	WDR36	110455768	110494099		Fingert, J. H.  et al. 2007	17353431				WD repeat domain 36	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139281			CDC GDP info	134430	Hs.533237			Arch Ophthalmol    2007    125(3)    434-6	No association between variations in the WDR36 gene and primary open-angle glaucoma		609669		CDC	2007												
155164		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	4	4p16	WFS1	6322477	6355893		Shadrina, M.  et al. 2006	16876316				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2		Russia	CDC GDP info	7466	Hs.518602			Neurosci Lett    2006	Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology		606201		CDC	2006												
155165		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	4	4p16	WFS1	6322477	6355893		Sandhu, M. S.  et al. 2007	17603484				Wolfram syndrome 1 (wolframin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006005.2			CDC GDP info	7466	Hs.518602			Nat Genet    2007	Common variants in WFS1 confer risk of type 2 diabetes		606201		CDC	2007												
155166	Y	osteoarthritis	METABOLIC	MET	Spondylitis|Osteoarthritis|Genetic Predisposition to Disease	8	8q24.1-q24.3	WISP1	134272493	134310753		Urano, T.  et al. 2007	17593496				WNT1 inducible signaling pathway protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF100779			CDC GDP info	8840	Hs.492974			J Bone Miner Metab    2007    25(4)    253-8	Association of a single nucleotide polymorphism in the WISP1 gene with spinal osteoarthritis in postmenopausal Japanese women		603398		CDC	2007												
155167	Y	glomerulosclerosis, focal	RENAL	REN	Denys-Drash Syndrome|Frasier Syndrome|Glomerulosclerosis, Focal Segmental	11	11p13	WIT1	32414160	32418196		Orloff, M. S.  et al. 2005	15687485				Wilms tumor upstream neighbor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=M60614			CDC GDP info	51352	Hs.567499			Physiol Genomics    2005    21(2)    212-21	Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population				CDC	2005	SNPs in WT1 and WIT1 genes are significantly associated with FSGS, suggesting that variants in these genes may mediate pathogenesis by altering WT1 function.		HIV									
155168		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q35	WNT10A	219453498	219466895		Beaty, T. H.  et al. 2006	16953426				Wingless-type MMTV integration site family, member 10A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC052234	Singapore		CDC GDP info	80326	Hs.121540			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		606268		CDC	2006												
155170	N	cognitive function intermittent claudication mortality risk mycoardial ischemia myocardial infarct stroke	CARDIOVASCULAR	CARD	Neoplasms|Myocardial Infarction|Intermittent Claudication|Cognition Disorders	8	8p12-p11.2	WRN	31010319	31150818			16405962				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDP info	7486	Hs.632050			Mech Ageing Dev    2006	Impact of genetic variations in the WRN gene on age related pathologies and mortality		604611		CDC	2006	the i1-C/T, L1074F and C1367R polymorphisms in the WRN gene do not influence the aging-trajectories and survival in the population at large.											
155171		lymphoma lymphoma, non-Hodgkin	CANCER	CAN		8	8p12-p11.2	WRN	31010319	31150818		Shen, M.  et al. 2006	16639601				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDP info	7486	Hs.632050			Hum Genet    2006	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		604611		CDC	2006												
155172		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Shen, M.  et al. 2006	16728435				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDP info	7486	Hs.632050			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		604611		CDC	2006												
155173		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Shen, M.  et al. 2006	16738949				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDP info	7486	Hs.632050			Hum Genet    2006    119(6)    659-68	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		604611		CDC	2006												
155174		breast cancer	CANCER	CAN	Breast Neoplasms|Carcinoma, Ductal, Breast|Genetic Predisposition to Disease	8	8p12-p11.2	WRN	31010319	31150818		Ding, S. L.  et al. 2007	17301258				Werner syndrome	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000553.2			CDC GDP info	7486	Hs.632050			Cancer Epidemiol Biomarkers Prev    2007    16(2)    263-9	Genetic Variation in the Premature Aging Gene WRN		604611		CDC	2007			menarche reproductive factors									
155175	Y	glomerulosclerosis, focal	RENAL	REN	Denys-Drash Syndrome|Frasier Syndrome|Glomerulosclerosis, Focal Segmental	11	11p13	WT1	32365900	32413663		Orloff, M. S.  et al. 2005	15687485				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDP info	7490	Hs.591980			Physiol Genomics    2005    21(2)    212-21	Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population		607102		CDC	2005	SNPs in WT1 and WIT1 genes are significantly associated with FSGS, suggesting that variants in these genes may mediate pathogenesis by altering WT1 function.		HIV									
155176		nephrotic syndrome	RENAL	REN	Denys-Drash Syndrome|Frasier Syndrome|Nephrotic Syndrome	11	11p13	WT1	32365900	32413663		Aucella, F.  et al. 2006	16909243				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3			CDC GDP info	7490	Hs.591980			Pediatr Nephrol    2006	WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes		607102		CDC	2006	WT1 splice mutations are not rare in females under 18 years with SRNS.											
155177	Y	nephrotic syndrome	RENAL	REN	Nephrotic Syndrome|Disease Progression|Genetic Predisposition to Disease	11	11p13	WT1	32365900	32413663		Hinkes, B. G.  et al. 2007	17371932				Wilms tumor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000378.3	European	Europe	CDC GDP info	7490	Hs.591980			Pediatrics    2007	Nephrotic Syndrome in the First Year of Life		607102		CDC	2007	First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2).											
155179	N	schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.1	XBP1	27520547	27526560		Jonsson, E. G.  et al. 2006	16342282			promoter	X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2	Swedish;European;German;Polish;Asian		CDC GDP info	7494	Hs.437638			Am J Med Genet B Neuropsychiatr Genet    2006    141(1)    71-5	Association study of a functional promoter polymorphism in the XBP1 gene and schizophrenia		194355		CDC	2006	the functional XBP1 gene polymorphism is not of major importance to schizophrenia in the European populations investigated.											
155180		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q12.1	XBP1	27520547	27526560		Watanabe, Y.  et al. 2006	16958950			promoter	X-box binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005080.2	Japanese;Chinese;European	Japan	CDC GDP info	7494	Hs.437638			Psychiatry Clin Neurosci    2006    60(5)    633-5	Association study of a functional promoter polymorphism of the X-box binding protein 1 gene in Japanese patients with schizophrenia		194355		CDC	2006												
155181		cedar pollinosis	IMMUNE	IMM	Rhinitis, Allergic, Seasonal	3	3p21.3-p21.1|3p21.3	XCR1	46037294	46043983		Nakamura, H.  et al. 2006	17135764				Chemokine (C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005283			CDC GDP info	2829	Hs.248116			Int Arch Allergy Immunol    2006    142(4)    329-334	Genotypes and Haplotypes of CCR2 and CCR3 Genes in Japanese Cedar Pollinosis		600552		CDC	2006												
155184			OTHER	OTH	Xeroderma Pigmentosum|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Hirai, Y.  et al. 2006	16905156				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Mutat Res    2006	Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population		278700		CDC	2006												
155185		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Carles, J.  et al. 2006	16979838				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Int J Radiat Oncol Biol Phys    2006	Single-nucleotide polymorphisms in base excision repair, nucleotide excision repair, and double strand break genes as markers for response to radiotherapy in patients with Stage I to II head-and-neck cancer		278700		CDC	2006	Patients were 101 men (93.		radiation									
155186	N	DNA repair capacity	CANCER	CAN	Breast Neoplasms	9	9q22.3	XPA	99477011	99499460		Shen, J.  et al. 2006	16985021				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1614-9	Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer		278700		CDC	2006	there were no statistically significant differences in average DRC for most of the genotypes.		smoking (tobacco)									
155187	Y	upper aerodigestive tract cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms	9	9q22.3	XPA	99477011	99499460		Hall, J.  et al. 2006	17040931				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2	Romania, Poland, Russia, Slovakia and the Czech Republic.		CDC GDP info	7507	Hs.591907			Carcinogenesis    2006	The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract		278700		CDC	2006												
155189	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	9	9q22.3	XPA	99477011	99499460		Hansen, R. D.  et al. 2007	17363013				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2	Danish		CDC GDP info	7507	Hs.591907			Mutat Res    2007	XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer		278700		CDC	2007	the results of the present study indicate that the four polymorphisms are not of major importance in colorectal cancer carcinogenesis.		alcohol meat smoking (tobacco)									
155190		lung cancer	CANCER	CAN	Lung Neoplasms	9	9q22.3	XPA	99477011	99499460		De Ruyck, K.  et al. 2007	17531525				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2	Caucasian		CDC GDP info	7507	Hs.591907			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		278700		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
155191		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	9	9q22.3	XPA	99477011	99499460		Wang, Y.  et al. 2007	17575242				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		278700		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
155193	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	3	3p25	XPC	14161648	14195143		Huang, W. Y.  et al. 2006	16492920	XPC 499V			Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		278720		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
155194	N	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Hirata, H.  et al. 2006	16510122				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Japan	CDC GDP info	7508	Hs.475538			Biochem Biophys Res Commun    2006	Polymorphisms of DNA repair genes are associated with renal cell carcinoma		278720		CDC	2006												
155195		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143			16537713				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3		Spain	CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		278720		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
155196	N	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Ye, W.  et al. 2006	16571649				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Carcinogenesis    2006	The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma. A population-based case-control study in Sweden		278720		CDC	2006												
155197	N	breast cancer	CANCER	CAN	Breast Neoplasms|Xeroderma Pigmentosum|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Jorgensen, T. J.  et al. 2006	16823510				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Breast Cancer Res Treat    2006	Breast Cancer Risk is not Associated with Polymorphic Forms of Xeroderma Pigmentosum Genes in a Cohort of Women from Washington County, Maryland		278720		CDC	2006	These results suggest that polymorphisms of XP genes are not likely to be significant risk factors for women within the general population.		family history									
155199	N	DNA repair capacity	CANCER	CAN	Breast Neoplasms	3	3p25	XPC	14161648	14195143		Shen, J.  et al. 2006	16985021				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1614-9	Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer		278720		CDC	2006	there were no statistically significant differences in average DRC for most of the genotypes.		smoking (tobacco)									
155200		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	3	3p25	XPC	14161648	14195143		Zhu, Y.  et al. 2006	17052994				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Caucasian		CDC GDP info	7508	Hs.475538			Carcinogenesis    2006	Genotypes, haplotypes, and diplotypes of XPC and risk of bladder cancer		278720		CDC	2006			smoking (tobacco)									
155201		cytogenetic studies	OTHER	OTH		3	3p25	XPC	14161648	14195143		Laczmanska, I.  et al. 2006	17078101				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		278720		CDC	2006												
155202	Y	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Wang, L.  et al. 2006	17086695				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Wei Sheng Yan Jiu    2006    35(5)    534-6	Polymorphisms of the DNA repair genes XRCC1 and XPC		278720		CDC	2006	This study suggest that XPC-PAT polymorphisms may contribute to the risk of pancreatic cancer in our study population.											
155203		colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3p25	XPC	14161648	14195143		Berndt, S. I.  et al. 2006	17119055				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(11)    2263-9	Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk		278720		CDC	2006												
155204		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	3	3p25	XPC	14161648	14195143		Li, C.  et al. 2006	17164380				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	non-Hispanic		CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2526-32	Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and Risk of Cutaneous Melanoma		278720		CDC	2006												
155205		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms	3	3p25	XPC	14161648	14195143		Sak, S. C.  et al. 2006	17164382				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2537-41	Comprehensive Analysis of 22 XPC Polymorphisms and Bladder Cancer Risk		278720		CDC	2006			occupational exposure smoking (tobacco)									
155206		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Hirata, H.  et al. 2006	17196815				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Eur J Cancer    2006	Polymorphisms of DNA repair genes are risk factors for prostate cancer		278720		CDC	2006												
155208		p53 alterations	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	3	3p25	XPC	14161648	14195143		Sakano, S.  et al. 2006	17374967				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Pathobiology    2006    73(6)    295-303	Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer		278720		CDC	2006	Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.											
155209	Y	lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		Bai, Y.  et al. 2007	17498315				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			BMC Cancer    2007    7(1)    81	Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population		278720		CDC	2007	These results suggest that inherited sequence variations in XPC may modulate risk of lung cancer, especially lung adenocarcinoma, in Chinese populations.		smoking (tobacco)									
155210		lung cancer	CANCER	CAN	Lung Neoplasms	3	3p25	XPC	14161648	14195143		De Ruyck, K.  et al. 2007	17531525				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Caucasian		CDC GDP info	7508	Hs.475538			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		278720		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
155211		oral premalignant lesions	CANCER	CAN	Mouth Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Wang, Y.  et al. 2007	17575242				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Clin Cancer Res    2007    13(12)    3753-8	Nucleotide excision repair pathway genes and oral premalignant lesions		278720		CDC	2007	Our results suggest that polymorphisms in NER genes may contribute to genetic susceptibility to OPLs and may therefore contribute to the development of oral cancer.		alcohol smoking (tobacco)									
155212	P		NORMALVARIATION	NV		19	19q13.2	XRCC1	48739303	48771555		Hamajima, N.  et al. 2002	12164325				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		194360		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
155213	P		NORMALVARIATION	NV		19	19q13.2	XRCC1	48739303	48771555		Hamajima, N.  et al. 2002	12718576				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Japanese;Chinese;Caucasian;Korean		CDC GDP info	7515	Hs.98493			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		194360		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
155214		benign breast disease breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555			16328064				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Oncol Rep    2006    15(1)    247-52	Polymorphisms of ADPRT Val762Ala and XRCC1 Arg399Glu and risk of breast cancer in Chinese women		194360		CDC	2006												
155215	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Zhang, Z.  et al. 2006	16405741				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Ai Zheng    2006    25(1)    7-10	Correlation of genetic polymorphisms in DNA repair genes ADPRT and XRCC1 to risk of gastric cancer		194360		CDC	2006	The ADPRT 762Val-->Ala polymorphism plays an important role in the development of gastric cancer, and the XRCC1 399Arg-->Gln polymorphism may serve as a risk modifier.											
155217		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16407418				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		194360		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
155218		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Dufloth, R. M.  et al. 2005	16475125				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Genet Mol Res    2005    4(4)    771-82	DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil		194360		CDC	2005			family history									
155219	Y	lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Li, M. C.  et al. 2005	16483478				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Zhong Liu Za Zhi    2005    27(12)    713-6	Association of genetic polymorphism in the DNA repair gene XRCC1 with susceptibility to lung cancer in non-smoking women.		194360		CDC	2005	The above described findings indicate that Arg 399Gln polymorphism in the XRCC1 is associated with risk of lung adenocarcinoma but not with risk of squamous-cell carcinoma of the lung in non-smoking women.											
155221	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Hirata, H.  et al. 2006	16510122				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1		Japan	CDC GDP info	7515	Hs.98493			Biochem Biophys Res Commun    2006	Polymorphisms of DNA repair genes are associated with renal cell carcinoma		194360		CDC	2006												
155222		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16520463				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Clin Oncol    2006	Single Nucleotide Polymorphisms of RecQ1, RAD54L and ATM Genes Are Associated With Reduced Survival of Pancreatic Cancer		194360		CDC	2006	These observations support the hypothesis that polymorphic variants of DNA repair genes affect clinical prognosis of patients with pancreatic cancer.		gemcitabine radiation									
155223		chromosome damage DNA damage	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Iarmarcovai, G.  et al. 2006	16551674				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Mutagenesis    2006	A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders		194360		CDC	2006												
155224		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Nock, N. L.  et al. 2006	16569655				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasian		CDC GDP info	7515	Hs.98493			Carcinogenesis    2006	Polymorphisms in estrogen bioactivation, detoxification and oxidative DNA base excision repair genes and prostate cancer risk		194360		CDC	2006												
155226		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Moreno, V.  et al. 2006	16609022				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		194360		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
155227	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Li, C.  et al. 2006	16621887				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Carcinogenesis    2006	Genetic variants of the ADPRT, XRCC1, and APE1 genes and risk of cutaneous melanoma		194360		CDC	2006	the APE1 Glu variant may have an effect or interact with XRCC1 in the etiology of CM or in linkage disequilibrium with other untyped protective alleles.											
155229	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Damaraju, S.  et al. 2006	16638864				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		194360		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
155230		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Hao, B.  et al. 2006	16652158			promoter	X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Oncogene    2006	A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and increased risk of non-small cell lung cancer		194360		CDC	2006			smoking (tobacco)									
155231		bladder cancer, p53 mutation in	CANCER	CAN	Urinary Bladder Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Stern, M. C.  et al. 2006	16652373				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Mol Carcinog    2006	DNA repair gene polymorphisms and probability of p53 mutation in bladder cancer		194360		CDC	2006												
155232		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Jiao, L.  et al. 2006	16844323				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Cancer Detect Prev    2006	Selected polymorphisms of DNA repair genes and risk of pancreatic cancer		194360		CDC	2006	This study suggests that polymorphisms of genes involved in the repair of alkylating DNA adduct and DNA base damage may play a role in modulating the risk of pancreatic cancer.		smoking (tobacco)									
155233	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Yuan, P.  et al. 2006	16875604				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Zhong Liu Za Zhi    2006    28(3)    196-9	XRCC1 and XPD genetic polymorphisms predict clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer		194360		CDC	2006	Those results suggest that the XRCC1 Arg194Trp and XPD Lys751Gln genetic polymorphisms may be associated with clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer.		chemotherapy									
155234	Y	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Chung, H. H.  et al. 2006	16875718				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		194360		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy	XRCC1 R399Q								
155235	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Miao, X.  et al. 2006	16890595				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Gastroenterology    2006    131(2)    420-7	Adenosine diphosphate ribosyl transferase and x-ray repair cross-complementing 1 polymorphisms in gastric cardia cancer		194360		CDC	2006	The ADPRT and XRCC1 polymorphisms confer host susceptibility to GCA, which might result from reduced ADPRT-XRCC1 interaction and attenuated base excision repair capacity.		smoking (tobacco)									
155236		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Quintela-Fandino, M.  et al. 2006	16896002				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Clin Oncol    2006	DNA-Repair Gene Polymorphisms Predict Favorable Clinical Outcome Among Patients With Advanced Squamous Cell Carcinoma of the Head and Neck Treated With Cisplatin-Based Induction Chemotherapy		194360		CDC	2006	Using a multivariate model, the presence of polymorphic variants in DNA-repair genes are powerful prognosis factors and response to cisplatin predictors among SCCHN patients.											
155237	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Jin, M. J.  et al. 2006	16924699				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhejiang Da Xue Xue Bao Yi Xue Ban    2006    35(4)    370-6	Association of single nucleotide polymorphisms and haplotypes in DNA repair gene XRCC1 with susceptibility of breast cancer.		194360		CDC	2006	XRCC1 C26304T, G27466A and G28152A SNPs may not be associated with the susceptibility of breast cancer.											
155238		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Manuguerra, M. et al  et al. 2006	16956909				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		194360		CDC	2006												
155239		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	19	19q13.2	XRCC1	48739303	48771555		Andreassen, C. N.  et al. 2006	16966185				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		194360		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
155241	Y	lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Kiyohara, C.  et al. 2006	16982113				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasian		CDC GDP info	7515	Hs.98493			Lung Cancer    2006	Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk		194360		CDC	2006												
155242		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Breast Cancer Association, = Consortium  et al. 2006	17018785				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		194360		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
155243	Y	DNA repair	OTHER	OTH	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Vodicka, P.  et al. 2006	17028303				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Carcinogenesis    2006	Association of DNA repair polymorphisms with DNA repair functional outcomes in healthy human subjects		194360		CDC	2006												
155245		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Costa, S.  et al. 2006	17063276				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Breast Cancer Res Treat    2006	DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility		194360		CDC	2006			family history									
155247	N	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Wang, L.  et al. 2006	17086695				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Wei Sheng Yan Jiu    2006    35(5)    534-6	Polymorphisms of the DNA repair genes XRCC1 and XPC		194360		CDC	2006	This study suggest that XPC-PAT polymorphisms may contribute to the risk of pancreatic cancer in our study population.											
155248	Y	breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neoplasm Metastasis|DNA Damage|Disease Progression	19	19q13.2	XRCC1	48739303	48771555		Bewick, M. A.  et al. 2006	17116943				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Clin Oncol    2006	Polymorphisms in XRCC1, XRCC3, and CCND1 and Survival After Treatment for Metastatic Breast Cancer		194360		CDC	2006	XRCC1-01, XRCC3-01, and CCND1-01 may be predictive of survival outcome in patients with MBC treated with DNA damaging chemotherapy.		chemotherapy organic solvents									
155249		chromosome anomalies DNA damage	OTHER	OTH	DNA Damage|Occupational Diseases|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Musak, L.  et al. 2006	17159780				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Neuro Endocrinol Lett    2006    27(Suppl2)    57-60	Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to cytostatics		194360		CDC	2006	The detection of individuals with increased susceptibility to genotoxic agents enables to take preventive measures during the working process.											
155250	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Yeh, C. C.  et al. 2006	17191090				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		194360		CDC	2006												
155251		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Hirata, H.  et al. 2006	17196815				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Eur J Cancer    2006	Polymorphisms of DNA repair genes are risk factors for prostate cancer		194360		CDC	2006												
155252		drug hypersensitivity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	19	19q13.2	XRCC1	48739303	48771555		Kuptsova, N.  et al. 2006	17197435				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Blood    2006	Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials		194360		CDC	2006			chemotherapy									
155253		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Figueroa, J. D.  et al. 2007	17203305				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		194360		CDC	2007												
155254	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Karahalil, B.  et al. 2006	17214369				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Turkish		CDC GDP info	7515	Hs.98493			Anticancer Res    2006    26(6C)    4955-8	DNA repair gene polymorphisms and bladder cancer susceptibility in a Turkish population		194360		CDC	2006	Our data showed that OGG1 genetic polymorphisms might be useful as prognostic genetic markers for bladder cancer in the clinical setting.		smoking (tobacco)									
155255	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Huang, M.  et al. 2007	17220334				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Cancer Epidemiol Biomarkers Prev    2007    16(1)    84-91	High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility		194360		CDC	2007	we did not find an association between any single BER gene single nucleotide polymorphism and bladder cancer risk.		smoking (tobacco)									
155256		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Li, D.  et al. 2007	17230526				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Int J Cancer    2007	Effects of base excision repair gene polymorphisms on pancreatic cancer survival		194360		CDC	2007												
155258		colorectal cancer	CANCER	CAN	Adenomyoma|Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Berndt, S. I.  et al. 2007	17283177				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasian	United States	CDC GDP info	7515	Hs.98493			Cancer Res    2007    67(3)    1395-404	Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma		194360		CDC	2007												
155260		skin lesions, arsenic-induced	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Breton, C. V.  et al. 2007	17374727				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Carcinogenesis    2007	Susceptibility to arsenic-induced skin lesions from polymorphisms in base excision repair genes		194360		CDC	2007												
155261		p53 alterations	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	19	19q13.2	XRCC1	48739303	48771555		Sakano, S.  et al. 2006	17374967				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Pathobiology    2006    73(6)    295-303	Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer		194360		CDC	2006	Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.											
155262		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Ruzzo, A.  et al. 2007	17401013				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		194360		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
155263		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Neoplasm Invasiveness	19	19q13.2	XRCC1	48739303	48771555		Pillot, G. A.  et al. 2006	17409981				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Thorac Oncol    2006    1(9)    972-8	A phase II study of irinotecan and carboplatin in advanced non-small cell lung cancer with pharmacogenomic analysis		194360		CDC	2006	The combination of carboplatin and irinotecan is an active combination in NSCLC, with response rates comparable with other platinum-containing doublets. Further studies with irinotecan should incorporate prospective pharmacogenomic analysis to identify markers for response and toxicity.		carboplatin Irinotecan									
155264		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Petty, W. J.  et al. 2007	17410042				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Thorac Oncol    2007    2(3)    197-202	A pharmacogenomic study of docetaxel and gemcitabine for the initial treatment of advanced non-small cell lung cancer		194360		CDC	2007	This regimen of docetaxel and gemcitabine is well tolerated and active for the treatment of advanced non-small cell lung cancer. The impact of XPD polymorphisms on hematologic toxicity is similar to what has been reported for platinum-based chemotherapy.		docetaxel gemcitabine									
155265		PAH-DNA adducts	METABOLIC	MET		19	19q13.2	XRCC1	48739303	48771555		Binkova, B.  et al. 2007	17412371				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		194360		CDC	2007												
155266		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local|Disease Progression	19	19q13.2	XRCC1	48739303	48771555		Sanyal, S.  et al. 2007	17438703				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Acta Oncol    2007    46(1)    31-41	Polymorphisms in XPD, XPC and the risk of death in patients with urinary bladder neoplasms		194360		CDC	2007												
155267	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	19	19q13.2	XRCC1	48739303	48771555		Guillem, V. M.  et al. 2007	17476281				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		194360		CDC	2007												
155269		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		De Ruyck, K.  et al. 2007	17531525				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasian		CDC GDP info	7515	Hs.98493			Mutat Res    2007	Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk		194360		CDC	2007	the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk.		smoking (tobacco)									
155270	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		19	19q13.2	XRCC1	48739303	48771555		Huang, H. L.  et al. 2007	17535647				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2007    25(4)    193-6	Association between genetic polymorphisms of DNA repair genes XRCC1, XRCC3 and susceptibility to chronic benzene poisoning.		194360		CDC	2007	Subjects with XRCC3 18067T variant allele are tolerance sub-group to benzene poisoning. Patients carrying XRCC1 27466 G/G genotype develop chronic benzene poisoning later.											
155271		1-hydroxypyrene, urinary Cytogenetic studies	METABOLIC	MET	DNA Damage	19	19q13.2	XRCC1	48739303	48771555		Qiu, L.  et al. 2007	17548684				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1193-9	Path Analysis of Biomarkers of Exposure and Early Biological Effects among Coke-Oven Workers Exposed to Polycyclic Aromatic Hydrocarbons		194360		CDC	2007	the path analysis seemed to be an alternative statistical approach for the ascertainment of complicated association among related biomarkers for the assessment of occupational exposure.											
155273	Y	chromosome damage	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Qiu, Y.  et al. 2007	17555083				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Wei Sheng Yan Jiu    2007    36(2)    132-6	Study of susceptibility of chromosomal damage induced by vinyl chloride monomer associated with genetic polymorphism in APE1, XRCC1		194360		CDC	2007	It was suggested that female workers and subjects carrying XRCC1 194 Arg/Arg genotypes could be higher risk of chromosomal damage when they exposed to VCM.		vinyl chloride monomer									
155274	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		19	19q13.2	XRCC1	48739303	48771555		Xu, J. N.  et al. 2007	17605237				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Yu Fang Yi Xue Za Zhi    2007    41(2)    114-7	Analysis for the association between genetic polymorphisms of XRCC1, XPD, XRCC3, CCND1 and the latency of the occupational chronic benzene poisoning		194360		CDC	2007	The polymorphisms of XRCC1 and CCND1 potentially modify the latency of the chronic benzene poisoning among workers exposed to benzene.											
155275		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Li, C.  et al. 2007	17614107				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	non-Hispanic		CDC GDP info	7515	Hs.98493			Cancer    2007	Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck		194360		CDC	2007			alcohol smoking (tobacco)									
155276	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Garcia-Closas, M.  et al. 2006	16485136				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256	Caucasian		CDC GDP info	7516	Hs.129727			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		600375		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
155277		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	7	7q36.1	XRCC2	151974519	152004183			16540687				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			Cancer Res    2006    66(6)    3323-30	Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival		600375		CDC	2006												
155279		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Breast Cancer Association, = Consortium  et al. 2006	17018785				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		600375		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
155280		cytogenetic studies	OTHER	OTH		7	7q36.1	XRCC2	151974519	152004183		Laczmanska, I.  et al. 2006	17078101				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		600375		CDC	2006												
155281		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	7	7q36.1	XRCC2	151974519	152004183		Figueroa, J. D.  et al. 2007	17557904				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		600375		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
155282	P		NORMALVARIATION	NV	Neoplasms|Respiratory Tract Diseases	7	7q36.1	XRCC2	151974519	152004183		Topinka, J.  et al. 2007	17604576				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			Toxicol Lett    2007	The DNA repair gene XPD/ERCC2 polymorphisms Arg156Arg (exon 6) and Lys751Gln (exon 23) are closely associated		600375		CDC	2007												
155285	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Garcia-Closas, M.  et al. 2006	16485136				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2	Caucasian		CDC GDP info	7517	Hs.592325			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		600675		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
155286	N	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Hirata, H.  et al. 2006	16510122				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2		Japan	CDC GDP info	7517	Hs.592325			Biochem Biophys Res Commun    2006	Polymorphisms of DNA repair genes are associated with renal cell carcinoma		600675		CDC	2006												
155287		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	14	14q32.3	XRCC3	103233706	103251549			16540687				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Cancer Res    2006    66(6)    3323-30	Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival		600675		CDC	2006												
155289	N	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Ye, W.  et al. 2006	16571649				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Carcinogenesis    2006	The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma. A population-based case-control study in Sweden		600675		CDC	2006												
155290		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Moreno, V.  et al. 2006	16609022				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		600675		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
155291		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Ruzzo, A.  et al. 2006	16622263				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		600675		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
155292	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Damaraju, S.  et al. 2006	16638864				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		600675		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
155293		bladder cancer, p53 mutation in	CANCER	CAN	Urinary Bladder Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Stern, M. C.  et al. 2006	16652373				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Mol Carcinog    2006	DNA repair gene polymorphisms and probability of p53 mutation in bladder cancer		600675		CDC	2006												
155294		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Shen, M.  et al. 2006	16728435				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		600675		CDC	2006												
155295		subcutaneous fibrosis	CANCER	CAN	Breast Neoplasms|Radiation Injuries|Fibrosis	14	14q32.3	XRCC3	103233706	103251549		Andreassen, C. N.  et al. 2006	16966185				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Int J Radiat Biol    2006    82(8)    577-86	Risk of radiation-induced subcutaneous fibrosis in relation to single nucleotide polymorphisms in TGFB1, SOD2, XRCC1, XRCC3, APEX and ATMndash; a study based on DNA from formalin fixed paraffin embedded tissue samples		600675		CDC	2006	The previously observed associations with risk of radiation-induced subcutaneous fibrosis could not be replicated in the present study. Further studies are needed to elucidate the influence of genetic variation upon normal tissue radiosensitivity.											
155296	Y	cardia cancer stomach cancer	CANCER	CAN		14	14q32.3	XRCC3	103233706	103251549		Huang, G. P.  et al. 2006	16981340				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(5)    420-3	DNA repair gene XRCC3 Thr241Met polymorphism and susceptibility to cardia and non-cardia gastric cancer		600675		CDC	2006	XRCC3 variated genotype was one of the risk factors of cardia cancer while different risks of factors might exsit between cardia and non-cardia gastric cancer.		alcohol gastritis vegetables									
155297		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Breast Cancer Association, = Consortium  et al. 2006	17018785				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		600675		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
155298		lung cancer	CANCER	CAN	Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Ryk, C.  et al. 2006	17034901				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Lung Cancer    2006	Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers		600675		CDC	2006			smoking (tobacco)									
155300		cytogenetic studies	OTHER	OTH		14	14q32.3	XRCC3	103233706	103251549		Laczmanska, I.  et al. 2006	17078101				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		600675		CDC	2006												
155301	Y	breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neoplasm Metastasis|DNA Damage|Disease Progression	14	14q32.3	XRCC3	103233706	103251549		Bewick, M. A.  et al. 2006	17116943				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Clin Oncol    2006	Polymorphisms in XRCC1, XRCC3, and CCND1 and Survival After Treatment for Metastatic Breast Cancer		600675		CDC	2006	XRCC1-01, XRCC3-01, and CCND1-01 may be predictive of survival outcome in patients with MBC treated with DNA damaging chemotherapy.		chemotherapy organic solvents									
155303		DNA adducts	OTHER	OTH		14	14q32.3	XRCC3	103233706	103251549		Jiao, L.  et al. 2006	17158087				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		600675		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
155304		chromosome anomalies DNA damage	OTHER	OTH	DNA Damage|Occupational Diseases|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Musak, L.  et al. 2006	17159780				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Neuro Endocrinol Lett    2006    27(Suppl2)    57-60	Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to cytostatics		600675		CDC	2006	The detection of individuals with increased susceptibility to genotoxic agents enables to take preventive measures during the working process.											
155305		cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Wilding, C. S.  et al. 2006	17177211				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Environ Mol Mutagen    2006	Influence of polymorphisms at loci encoding DNA repair proteins on cancer susceptibility and G(2) chromosomal radiosensitivity		600675		CDC	2006												
155307		drug hypersensitivity leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	14	14q32.3	XRCC3	103233706	103251549		Kuptsova, N.  et al. 2006	17197435				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Blood    2006	Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials		600675		CDC	2006			chemotherapy									
155308		p53 alterations	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Invasiveness	14	14q32.3	XRCC3	103233706	103251549		Sakano, S.  et al. 2006	17374967				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Pathobiology    2006    73(6)    295-303	Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer		600675		CDC	2006	Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.											
155309		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Ruzzo, A.  et al. 2007	17401013				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		600675		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
155310		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Petty, W. J.  et al. 2007	17410042				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Thorac Oncol    2007    2(3)    197-202	A pharmacogenomic study of docetaxel and gemcitabine for the initial treatment of advanced non-small cell lung cancer		600675		CDC	2007	This regimen of docetaxel and gemcitabine is well tolerated and active for the treatment of advanced non-small cell lung cancer. The impact of XPD polymorphisms on hematologic toxicity is similar to what has been reported for platinum-based chemotherapy.		docetaxel gemcitabine									
155311	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	14	14q32.3	XRCC3	103233706	103251549		Guillem, V. M.  et al. 2007	17476281				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		600675		CDC	2007												
155312	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		14	14q32.3	XRCC3	103233706	103251549		Huang, H. L.  et al. 2007	17535647				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2007    25(4)    193-6	Association between genetic polymorphisms of DNA repair genes XRCC1, XRCC3 and susceptibility to chronic benzene poisoning.		600675		CDC	2007	Subjects with XRCC3 18067T variant allele are tolerance sub-group to benzene poisoning. Patients carrying XRCC1 27466 G/G genotype develop chronic benzene poisoning later.											
155314		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Figueroa, J. D.  et al. 2007	17557904				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		600675		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
155315	N	benzene toxicity	PHARMACOGENOMIC	PHARM		14	14q32.3	XRCC3	103233706	103251549		Xu, J. N.  et al. 2007	17605237				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Zhonghua Yu Fang Yi Xue Za Zhi    2007    41(2)    114-7	Analysis for the association between genetic polymorphisms of XRCC1, XPD, XRCC3, CCND1 and the latency of the occupational chronic benzene poisoning		600675		CDC	2007	The polymorphisms of XRCC1 and CCND1 potentially modify the latency of the chronic benzene poisoning among workers exposed to benzene.											
155316	N	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Ruzzo, A.  et al. 2007	17617021				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		600675		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
155318		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Shen, M.  et al. 2006	16728435				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2			CDC GDP info	7518	Hs.567359			Carcinogenesis    2006	Polymorphisms in genes involved in DNA double strand break repair pathway and susceptibility to benzene-induced hematotoxicity		194363		CDC	2006												
155319		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Rudd, M. F.  et al. 2006	16741161				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2	Caucasian		CDC GDP info	7518	Hs.567359			Genome Res    2006    16(6)    693-701	Variants in the GH-IGF axis confer susceptibilityto lung cancer		194363		CDC	2006												
155320	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Allen-Brady, K.  et al. 2006	16835328				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2		Utah	CDC GDP info	7518	Hs.567359			Cancer Epidemiol Biomarkers Prev    2006    15(7)    1306-10	A Role for XRCC4 in Age at Diagnosis and Breast Cancer Risk		194363		CDC	2006												
155321		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Figueroa, J. D.  et al. 2007	17557904				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2			CDC GDP info	7518	Hs.567359			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		194363		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
155322	Y	esophageal cancer gastric cardiac adenocarcinoma	CANCER	CAN		2	2q35	XRCC5	216682376	216779248		Dong, X. J.  et al. 2007	17355791				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			CDC GDP info	7520	Hs.388739			Ai Zheng    2007    26(3)    280-4	Correlations of XRCC5 Polymorphisms to Genetic Susceptibility to Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma in a High Incidence Region.		194364		CDC	2007	In the population with positive UGIC family history in the high incidence region of Hebei Province, individuals with A allele of XRCC5 C74468A might have low risk of developing ESCC and GCA, however, individuals with G allele of XRCC5 G74582A might only have low risk of developing GCA.		family history smoking (tobacco)									
155323		brain cancer	CANCER	CAN		2	2q35	XRCC5	216682376	216779248		Liu, Y.  et al. 2007	17389609				X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021141.2			CDC GDP info	7520	Hs.388739			Carcinogenesis    2007	Tagging SNPs in Nonhomologous End-Joining Pathway Genes and Risk of Glioma		194364		CDC	2007	genetic variants of the genes involved in the DSB repair pathway may play a role in the etiology of glioma.											
155324		brain cancer	CANCER	CAN		22	22q13.2-q13.31	XRCC6	40347240	40389998		Liu, Y.  et al. 2007	17389609				X-ray repair complementing defective repair in Chinese hamster cells 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001469.3			CDC GDP info	2547	Hs.292493			Carcinogenesis    2007	Tagging SNPs in Nonhomologous End-Joining Pathway Genes and Risk of Glioma		152690		CDC	2007	genetic variants of the genes involved in the DSB repair pathway may play a role in the etiology of glioma.											
155326	Y	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16p12	XYLT1	17103681	17472239		Schon, S.  et al. 2006	17003309	XYLT-I c.343G>T			Xylosyltransferase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022166.2			CDC GDP info	64131	Hs.585743			Diabetes Care    2006    29(10)    2295-2299	The Xylosyltransferase I Gene Polymorphism c.343G>T (p.A125S) Is a Risk Factor for Diabetic Nephropathy in Type 1 Diabetes		608124		CDC	2006	The XYLT-I c.343G>T polymorphism contributes to the genetic susceptibility to development of diabetic nephropathy in type 1 diabetic patients.											
155327	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	17	17q21.3-17q22	XYLT2	45778391	45793511		Schon, S.  et al. 2006	17003309				Xylosyltransferase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022167.1			CDC GDP info	64132	Hs.463416			Diabetes Care    2006    29(10)    2295-2299	The Xylosyltransferase I Gene Polymorphism c.343G>T (p.A125S) Is a Risk Factor for Diabetic Nephropathy in Type 1 Diabetes		608125		CDC	2006	The XYLT-I c.343G>T polymorphism contributes to the genetic susceptibility to development of diabetic nephropathy in type 1 diabetic patients.											
155328	Y	longevity	AGING	AGE		1	1p35	YTHDF2	28935722	28968874		Cardelli, M.  et al. 2006	16799135				YTH domain family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016258			CDC GDP info	51441	Hs.532286			J Gerontol A Biol Sci Med Sci    2006    61(6)    547-56	A Polymorphism of the YTHDF2 Gene (1p35) Located in an Alu-Rich Genomic Domain Is Associated With Human Longevity		610640		CDC	2006												
155329		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q12.3	YWHAH	30670478	30683590		Wang, H. S.  et al. 2005	16459651				Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003405.3			CDC GDP info	7533	Hs.226755			Yi Chuan Xue Bao    2005    32(12)    1235-40	Association study between NPY and YWHAH gene polymorphisms and schizophrenia		113508		CDC	2005												
155330		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	12	12q21.2	ZDHHC17	75681984	75771605		Metzger, S.  et al. 2006	16847693				Zinc finger, DHHC-type containing 17	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB024494	European		CDC GDP info	23390	Hs.4014			Hum Genet    2006	Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease		607799		CDC	2006												
155331		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q11.21	ZDHHC8	18499364	18515529		Glaser, B.  et al. 2006	16860541				Zinc finger, DHHC-type containing 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013373.2	European		CDC GDP info	29801	Hs.63128			Schizophr Res    2006	Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility		608784		CDC	2006												
155332		myopia	VISION	VIS	Myopia	18	18pter-p11.2	ZFP161	5279378	5286039		Wang, G. B.  et al. 2004	15639979				Zinc finger protein 161 homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003409			CDC GDP info	7541	Hs.592340			Yi Chuan    2004    26(2)    155-9	Variations of the zinc finger protein 161 gene in Chinese with or without high myopia		602126		CDC	2004												
155334		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	11	11q23.3	ZNF202	123100206	123117573		Park, J. W.  et al. 2006	16415175				Zinc finger protein 202	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003455.2			CDC GDP info	7753	Hs.112556			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		603430		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
155335		cholesterol, HDL	METABOLIC	MET		11	11q23.3	ZNF202	123100206	123117573		Stene, M. C.  et al. 2006	16467280				Zinc finger protein 202	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003455.2	Danish	Denmark	CDC GDP info	7753	Hs.112556			J Lipid Res    2006	Zinc finger protein 202, genetic variation, and HDL cholesterol in the general population		603430		CDC	2006												
155336	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.41	ZNF350	57159404	57181891		Garcia-Closas, M.  et al. 2006	16485136				Zinc finger protein 350	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021632.3	Caucasian		CDC GDP info	59348	Hs.407694			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		605422		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
155337		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	19	19q13.41	ZNF350	57159404	57181891		Figueroa, J. D.  et al. 2007	17557904				Zinc finger protein 350	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021632.3			CDC GDP info	59348	Hs.407694			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		605422		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
155338	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcohol-Related Disorders|Genetic Predisposition to Disease	19	19p13.2	ZNF699	9266985	9276795		Riley, B. P.  et al. 2006	16940975				Zinc finger protein 699	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK095463			CDC GDP info	374879	Hs.633842			Mol Psychiatry    2006	Alcohol dependence is associated with the ZNF699 gene, a human locus related to Drosophila hangover, in the Irish affected sib pair study of alcohol dependence (IASPSAD) sample				CDC	2006												
143760	P		NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Yip, S. P.  et al. 2006	16686845				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Transfusion    2006    46(5)    773-9	ABO blood group in Kuwaitis		110300		CDC	2006	This is the first study reporting the detailed distribution of ABO alleles and genotypes in Kuwaitis.											
143768	P		NORMALVARIATION	NV		9	9q34.1-q34.2	ABO	135120383	135140451		Jeremiah, Z. A.  et al. 2006	17140342				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Afr Health Sci    2006    6(3)    177-81	Abnormal haemoglobin variants, ABO and Rh blood groups among student of African descent in Port Harcourt, Nigeria		110300		CDC	2006	There is a gradual decline in the prevalence of abnormal haemoglobin variants in our black population.											
144409			CARDIOVASCULAR	CARD	Cardiovascular Diseases	2	2p24-p23	APOB	21077805	21120450		Moral, P.  et al. 2003	14746139				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2	European		CDC GDP info	338	Hs.120759			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		107730		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
144425			CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOC1	50109416	50114446		Moral, P.  et al. 2003	14746139				Apolipoprotein C-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ249921	European		CDC GDP info	341	Hs.110675			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		107710		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
144574			NORMALVARIATION	NV		X	Xq11.2-q12	AR	66680598	66860844		Giwercman, C.  et al. 2007	17376218				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Int J Androl    2007	Polymorphisms in genes regulating androgen activity among prostate cancer low-risk Inuit men and high-risk Scandinavians		313700		CDC	2007												
145642	P		NORMALVARIATION	NV		12	12q13.11-q13.2	COL2A1	46653014	46684552		Ruangjirachuporn, W.  et al. 2006	16978902				Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001844.3			CDC GDP info	1280	Hs.408182			Leg Med (Tokyo)    2006	Population genetic data on D1S80, D17S5, ApoB, COL2A1 and Ig-JH in Northeastern Thais		120140		CDC	2006												
146421	P		NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Bailliet, G.  et al. 2006	17194620				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	Caucasian;Indian;Native American;Asian	Argentina|Paraguay	CDC GDP info	1564	Hs.333497			Mutat Res    2006	Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay		124030		CDC	2006												
147525			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	X	Xq27.1-q27.2	F9	138440560	138473283		Lee, J. K.  et al. 2003	12768436				Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000133.2	Japanese;Caucasian;Korean		CDC GDP info	2158	Hs.522798			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		306900		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
147562			NORMALVARIATION	NV		10	10q24.1	FAS	90740267	90765522		Cho, S. M.  et al. 2004	15301860				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Japanese;Korean;Asian		CDC GDP info	355	Hs.244139			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		134637		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
147834	P		NORMALVARIATION	NV		19	19p13.3	FUT3	5793901	5802482		Xu, X. G.  et al. 2006	16800951				Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000149.1			CDC GDP info	2525	Hs.169238			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2006    14(3)    601-4	FUT3 Gene Polymorphism Associated with Lewis Blood Group in Chinese Zhejiang Population.		111100		CDC	2006	the polymorphism of non-functional FUT3 allele was found to be relatively variable in Chinese Zhejiang population.											
148030	P		NORMALVARIATION	NV		13	13q11-q12	GJB2	19659604	19665114		Chen, D. Y.  et al. 2006	17313762				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDP info	2706	Hs.591234			Zhonghua Yi Xue Za Zhi    2006    86(44)    3114-7	High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients.		121011		CDC	2006	Mutations in the GJB2 gene were a major cause of deafness in cochlear implant recipients, the carrier frequency of 235delC mutation was highest.											
148284	P		CANCER	CAN	Neoplasms	11	11q13	GSTP1	67107861	67110699		Yoshimura, K.  et al. 2003	14634838				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		134660		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
148570	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Li, Y.  et al. 2006	16456786				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Singapore	China	CDC GDP info	3106	Hs.77961			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(1)    50-4	HLA-B gene polymorphism detected by high-resolution sequence-based typing in Guangdong Han populations.		142830		CDC	2006	The results have shown the characteristic of HLA-B distribution and provided more accurate genotypic data that may serve as normal reference value for the Han population in Guangdong, China.											
148577			NORMALVARIATION	NV	Spondylitis, Ankylosing|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Yang, G.  et al. 2006	16733912				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    240-3	Frequencies distribution of human leukocyte antigen-B27 subtypes in healthy Chinese		142830		CDC	2006	The data obtained through PCR-SBT method may serve as important reference for the research of relationship between HLA-B27 subtypes and some diseases such as ankylosing spondylitis.											
148582	P		NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Xu, M. Y.  et al. 2006	16870575				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Yi Chuan    2006    28(8)    913-917	Analysis of HLA-B Locus Gene Polymorphism in Sichuan Yi Ethnic Group and Xinjiang Uygur Ethnic Group.		142830		CDC	2006												
148718			NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Lee, K. W.  et al. 2007	17445173				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Korean		CDC GDP info	3117	Hs.387679			Tissue Antigens    2007    69 Suppl 1    82-4	Diversity of HLA-DQA1 gene in the Korean population		146880		CDC	2007												
148894	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Hajjej, A.  et al. 2006	16473309				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Greek;Tunisian	Tunisia|Mediterranean Region	CDC GDP info	3123	Hs.534322			Eur J Med Genet    2006    49(1)    43-56	HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans		142857		CDC	2006												
148920	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Hajjej, A.  et al. 2006	16866885				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	European;Moroccan;Tunisian		CDC GDP info	3123	Hs.534322			Tissue Antigens    2006    68(2)    153-62	The contribution of HLA class I and II alleles and haplotypes to the investigation of the evolutionary history of Tunisians		142857		CDC	2006												
148998	P		NORMALVARIATION	NV		6	6p21.3	HLA-DRB1	32593131	32665559		Leffell, M. S.  et al. 2007	17460569				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Transplantation    2007    83(7)    964-972	Improved Definition of Human Leukocyte Antigen Frequencies Among Minorities and Applicability to Estimates of Transplant Compatibility		142857		CDC	2007	The noted improvements in HLA definition and the overall lack of significant deviation from HWE indicate the accuracy of these HLA frequencies.											
149811	P		NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Hamajima, N.  et al. 2002	12718576				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	3553	Hs.126256			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		147720		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
149880			NORMALVARIATION	NV		2	2q12	IL1R1	102125677	102162766		Bagheri, M.  et al. 2006	16764598				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2	Iranian;Asian	Iran	CDC GDP info	3554	Hs.557403			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147810		CDC	2006												
149901			NORMALVARIATION	NV		2	2q14.2	IL1RN	113573407	113608064		Bagheri, M.  et al. 2006	16764598				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Iranian;Asian	Iran	CDC GDP info	3557	Hs.81134			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147679		CDC	2006												
150042			NORMALVARIATION	NV		16	16p11.2-12.1	IL4R	27232751	27283600		Bagheri, M.  et al. 2006	16764598				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Iranian;Asian	Iran	CDC GDP info	3566	Hs.513457			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147781		CDC	2006												
150317			NORMALVARIATION	NV		5	5q23-q31	ITGA2	52320912	52426366		Pavkovic, M.  et al. 2006	16573563				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2	European		CDC GDP info	3673	Hs.591770			Tissue Antigens    2006    67(3)    241-246	Gene frequencies of human platelet antigens in the Macedonian population		192974		CDC	2006	of our study were not significantly different from those reported in the other European studies.											
150495			NORMALVARIATION	NV		19	19q13.4	KIR2DL2	59927795	60001550		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF285439			CDC GDP info	3803	Hs.534327			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604937		CDC	2007												
150508			NORMALVARIATION	NV		19	19q13.4	KIR2DL4	59989604	60070482		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002255	Indian;Asian		CDC GDP info	3805	Hs.166085			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604945		CDC	2007												
150511	P		NORMALVARIATION	NV		19	19q13.4	KIR2DL5A				Mahfouz, R.  et al. 2006	16774542				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5			Lebanon	CDC GDP info	57292	HS.512659			Tissue Antigens    2006    68(1)    66-71	Distribution of killer cell immunoglobulin-like receptors genotypes in the Lebanese population		605305		CDC	2006												
150522			NORMALVARIATION	NV		19	19q13.4	KIR2DS1	257787	271802		Gutierrez-Rodriguez, M. E.  et al. 2006	16698429				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014512	Caucasian;Mexican	Mexico	CDC GDP info	3806	Hs.512574			Hum Immunol    2006    67(1-2)    85-93	KIR Gene in Ethnic and Mestizo Populations from Mexico		604952		CDC	2006												
150540			NORMALVARIATION	NV		19	19q13.4	KIR2DS4	59989604	60070482		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012314			CDC GDP info	3809	Hs.258612			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604955		CDC	2007												
150546			NORMALVARIATION	NV		19	19q13.4	KIR2DS5	240800	255821		Gutierrez-Rodriguez, M. E.  et al. 2006	16698429				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081	Caucasian;Mexican	Mexico	CDC GDP info	3810	Hs.375019			Hum Immunol    2006    67(1-2)    85-93	KIR Gene in Ethnic and Mestizo Populations from Mexico		604956		CDC	2006												
150560	P		NORMALVARIATION	NV		19	19q13.4	KIR3DL2	59989604	60070482			16403292				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595	Caucasian		CDC GDP info	3812	Hs.380156			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		604947		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
150564			NORMALVARIATION	NV		19	19q13.4	KIR3DL2	59989604	60070482		Flores, A. C.  et al. 2007	17498266				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=X93595	Indian;Asian		CDC GDP info	3812	Hs.380156			Tissue Antigens    2007    69(6)    568-76	KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations		604947		CDC	2007												
151912	P		CANCER	CAN	Neoplasms	17	17q11.2-q12	NOS2A	23107918	23151682		Yoshimura, K.  et al. 2003	14634838				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		163730		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152141	P		NORMALVARIATION	NV		16	16q22.1	NQO1	68300804	68318034		Hamajima, N.  et al. 2002	12718576				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1728	Hs.406515			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		125860		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
152252			NORMALVARIATION	NV		3	3p26.2	OGG1	9765704	9783342		Hamajima, N.  et al. 2002	12164325				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		601982		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
153180	P		NORMALVARIATION	NV		1	1p36.11	RHCE	25561326	25629270		Sun, Z. G.  et al. 2006	17080665				Rhesus blood group, CcEe antigens	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020485.3			CDC GDP info	6006	Hs.449968			Fa Yi Xue Za Zhi    2006    22(4)    271-4	RHCE genotyping in Chinese Han from north and Li from south		111700		CDC	2006	PCR-SSP technology can exactly detect RHCE genotype in individuals of Han population in north China and Li population in south China.											
153184	P		NORMALVARIATION	NV		1	1p36.11	RHD	25471567	25529523		Yang, Y. F.  et al. 2007	17196520				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3	Chinese;Caucasian	Taiwan	CDC GDP info	6007	Hs.643556			Transl Res    2007    149(1)    31-36	Prevalence of RHD 1227A and hybrid Rhesus box in the general Chinese population		111680		CDC	2007	the RHD 1227A gene is highly prevalent in DEL populations of Chinese ethnicity, which indicates that it may be a marker for the rapid detection of DEL.											
154274			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Bagheri, M.  et al. 2006	16764598				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Iranian;Asian	Iran	CDC GDP info	7040	Hs.155218			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		190180		CDC	2006												
154631			NORMALVARIATION	NV		8	8p22-p21	TNFRSF10C	22997812	23030895		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003841	Japanese;Korean;Asian		CDC GDP info	8794	Hs.655801			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603613		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154635			NORMALVARIATION	NV		18	18q22.1	TNFRSF11A	58143527	58204484		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Japanese;Korean;Asian		CDC GDP info	8792	Hs.204044			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603499		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154680	P		NORMALVARIATION	NV		1	1p36	TNFRSF9	7902493	7923474		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK125490	Japanese;Korean;Asian		CDC GDP info	3604	Hs.654459			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		602250		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154806	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Rossino, R.  et al. 2006	16789994				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	European;Sardinian	Italy	CDC GDP info	7172	Hs.444319			J Clin Pharm Ther    2006    31(3)    283-7	Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia		187680		CDC	2006	Although Sardinia does not show reduced diversity at the TPMT locus, the spectrum of TPMT allele frequencies affords evidence of remarkable influence of genetic drift and founder effects throughout its population history.											
154809	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Sasaki, T.  et al. 2006	16946561				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Drug Metab Pharmacokinet    2006    21(4)    332-6	Three novel single nucleotide polymorphisms of the human thiopurine s-methyltransferase gene in Japanese individuals		187680		CDC	2006												
154812	P		NORMALVARIATION	NV		6	6p22.3	TPMT	18236523	18263353		Toft, N.  et al. 2006	17129980				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2	Caucasian;Danish		CDC GDP info	7172	Hs.444319			Acta Paediatr    2006    95(12)    1665-7	Genetic analyses of thiopurine methyltransferase polymorphisms in Greenlandic and Danish populations		187680		CDC	2006	In the Danish population, the incidence of thiopurine methyltransferase low-activity alleles was found to be similar to other Caucasian populations previously described. In contrast, the Greenlandic population showed a significantly higher frequency of thiopurine methyltransferase low-activity alleles.											
143566	Y	cholestasis, drug-induced hepatotoxicity	PHARMACOGENOMIC	PHARM	Cholestasis|Liver Diseases|Genetic Predisposition to Disease	2	2q24	ABCB11	169487694	169596079		Lang, C.  et al. 2007	17264802				ATP-binding cassette, sub-family B (MDR/TAP), member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003742.2	Caucasian		CDC GDP info	8647	Hs.158316			Pharmacogenet Genomics    2007    17(1)    47-60	Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury		603201		CDC	2007	In summary, our data support a role of ABCB11 and ABCB4 mutations and polymorphisms in drug-induced cholestasis. Genotyping of selected patients with acquired cholestasis might help to identify individuals with a genetic predisposition.											
143646	Y	heart transplant	CARDIOVASCULAR	CARD		7	7q21.1	ABCB1	86970883	87180500		Barnard, J. B.  et al. 2006	17198259				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Transplantation    2006    82(12)    1677-1682	The MDR1/ABCB1 Gene, a High-Impact Risk Factor for Cardiac Transplant Rejection		171050		CDC	2006	ABCB1 polymorphisms correlate with freedom from grade > or =3A EBPR and we believe that this may be attributed to MDR1/ABCB1 encoded P-gp mediating the efflux of immunosuppressants out of leukocytes, with depleted immunosuppressant levels in leukocytes manifesting as increased cellular rejection.											
143842		stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	17	17q23	ACE	58908165	58952935		Rocken, C.  et al. 2007	17548686				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1206-12	The Angiotensin II/Angiotensin II Receptor System Correlates with Nodal Spread in Intestinal Type Gastric Cancer		106180		CDC	2007												
144414	Y	longevity	AGING	AGE		2	2p24-p23	APOB	21077805	21120450		Jiang, W.  et al. 2006	17029200	S allele, and SS genotype are frail factors;  L and genotypes LL are protective factors.			Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    523-527	Comparative study of APOB gene 3'VNTR polymorphisms between natural longevity and controls in Uighur nationality.		107730		CDC	2006	These results indicate that the S allele, and SS genotype are frail factors in China Uighur natural longevity people, whereas allele L and genotypes LL are protective factors.											
145998		endometrial cancer endometrial hyperplasia	CANCER	CAN	Endometrial Neoplasms|Precancerous Conditions|Endometrial Hyperplasia	10	10q24.3	CYP17A1	104580277	104587280		Aban, M.  et al. 2006	16515644				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Int J Gynecol Cancer    2006    16 Suppl 1    448-51	CYP17 genetic polymorphism in patients with endometrial hyperplasia and cancer		202110		CDC	2006												
146038		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		15	15q21.1	CYP19A1	49288961	49418086		Comings, D. E.  et al. 2000	11140838				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		107910		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
146240	P		NORMALVARIATION	NV		19	19q13.2	CYP2A6	46041283	46048180		Nurfadhlina, M.  et al. 2006	16891249				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	Chinese;Indian		CDC GDP info	1548	Hs.439056			Xenobiotica    2006    36(8)    684-92	CYP2A6 polymorphisms in Malays, Chinese and Indians		122720		CDC	2006												
149145	P		CANCER	CAN	Neoplasms	9	9q22	HSD17B3	98037409	98104255		Yoshimura, K.  et al. 2003	14634838				Hydroxysteroid (17-beta) dehydrogenase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000197.1			CDC GDP info	3293	Hs.477			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		605573		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
149507		insulin-like growth factor	METABOLIC	MET		12	12q22-q23	IGF1	101313805	101398454		Cheng, I.  et al. 2007	17566087				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			J Clin Endocrinol Metab    2007	Genetic Determinants of Circulating IGF-I, IGFBP-1 and IGFBP-3 Levels in a Multiethnic Population		147440		CDC	2007	In summary, our study suggests that common genetic variation in IGFBP3 influences circulating levels of IGFBP-3 among African-Americans, Native Hawaiians, Japanese-Americans, Latinos, and Whites.											
149558			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Hamajima, N.  et al. 2002	12164325				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		124092		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
149624		cystic fibrosis	OTHER	OTH	Cystic Fibrosis	1	1q31-q32	IL10	205007570	205012462		Watt, A. P.  et al. 2007	17336597			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Cyst Fibros    2007	Frequency of cytokine gene promoter polymorphisms in the Northern Ireland Cystic Fibrosis population		124092		CDC	2007												
149672	N	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Cargill, M.  et al. 2007	17236132				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes		161560		CDC	2007												
149701			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	1	1p31.3-p31.2	IL12RB2	67545634	67635171		Lee, J. K.  et al. 2003	12768436				Interleukin 12 receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001559.2	Japanese;Caucasian;Korean		CDC GDP info	3595	Hs.479347			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		601642		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
149727			CANCER	CAN	Neoplasms|Inflammation	5	5q31	IL13	132021763	132024700		Huang, H. Y.  et al. 2007	17355643				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	African American;Caucasian		CDC GDP info	3596	Hs.845			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147683		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149788			NORMALVARIATION	NV		2	2q14	IL1A	113247962	113259442		Bagheri, M.  et al. 2006	16764598				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Iranian;Asian	Iran	CDC GDP info	3552	Hs.1722			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		147760		CDC	2006												
149830			NORMALVARIATION	NV		2	2q14	IL1B	113303807	113310827		Bagheri, M.  et al. 2006	16734562				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3553	Hs.126256			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147720		CDC	2006												
149852		heartburn	OTHER	OTH	Heartburn	2	2q14	IL1B	113303807	113310827		Lee, Y. C.  et al. 2007	17295876				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Gastroenterol Hepatol    2007    22(2)    227-33	GABRA6 genetic polymorphism is associated with the risk of functional heartburn in Chinese		147720		CDC	2007	Chinese patients with certain psychiatric characteristics and GABRA6 heterozygosity are probably predisposed to functional heartburn, providing insight into this condition\s psychopathology and genetics.											
149856			CANCER	CAN	Neoplasms|Inflammation	2	2q14	IL1B	113303807	113310827		Huang, H. Y.  et al. 2007	17355643				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	African American;Caucasian		CDC GDP info	3553	Hs.126256			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147720		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149916	Y	silicosis	IMMUNE	IMM	Silicosis|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Wang, D. J.  et al. 2006	17290743				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Wei Sheng Yan Jiu    2006    35(6)    693-6	Study on association of interleukin-1 receptor antagonist(RA) gene + 2018 locus mutation with silicosis		147679		CDC	2006	IL-1RA gene polymorphisms played an important role in making the Han population of Southwest China susceptible to silicosis. IL-1RA might be taked as a gene to be selected for studing the susceptibility of silicosis.											
149936	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Sumnik, Z.  et al. 2006	16567828				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2	European		CDC GDP info	3558	Hs.89679			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		147680		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
150003		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Guglielmi, L.  et al. 2006	16867043			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		147780		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
150072	N	asthma atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	3	3p26-p24	IL5RA	3086420	3127031		Kabesch, M.  et al. 2007	17362254				Interleukin 5 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000564.2	German	Germany	CDC GDP info	3568	Hs.68876			Allergy    2007    62(4)    423-8	Polymorphisms in eosinophil pathway genes, asthma and atopy		147851		CDC	2007	IL-5 C-746T influenced atopic outcomes and showed evidence for gene by gene interaction. No significant associations were found with all other tested polymorphisms in the eosinophil regulation pathway after correction for multiple testing.											
150190		breast cancer	CANCER	CAN	Breast Neoplasms	4	4q13-q21	IL8	74825138	74828297		Vogel, U.  et al. 2006	16959787				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Carcinogenesis    2006	Peroxisome profilerator-activated receptor{gamma}2 Pro12Ala, interaction with alcohol intake and NSAID use, in relation to risk of breast cancer in a prospective study of Danes		146930		CDC	2006			alcohol nonsteroidal anti-inflammatory (NSAID)									
150237		post-traumatic stress disorder suicide	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Stress Disorders, Post-Traumatic|Bipolar Disorder	2	2q32	INPP1	190916679	190944552		Bremer, T.  et al. 2007	17570738				Inositol polyphosphate-1-phosphatase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002194.2			CDC GDP info	3628	Hs.32309			Mol Diagn Ther    2007    11(3)    161-70	The Pharmacogenetics of Lithium Response Depends upon Clinical Co-Morbidity		147263		CDC	2007	These data support the idea that response to lithium has a multi-genetic etiology dependent upon manifestations of other clinical co-diagnoses.		lithium									
150282	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	7	7q32	IRF5	128365229	128377324		Rueda, B.  et al. 2006	17133578				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3			CDC GDP info	3663	Hs.521181			Arthritis Rheum    2006    54(12)    3815-3819	Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis		607218		CDC	2006	Our results suggest that the IRF5 functional polymorphisms analyzed do not seem to be implicated in genetic susceptibility to RA.											
150324	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	5	5q23-q31	ITGA2	52320912	52426366		Tsantes, A. E.  et al. 2006	17023078	C807T			Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Int J Cardiol    2006	Lack of association between the platelet glycoprotein Ia C807T gene polymorphism and coronary artery disease		192974		CDC	2006	Our findings support the view that C807T polymorphism of the GPla gene is not a significant risk factor for CAD, either alone or in combination with other major cardiovascular risk factors.											
150330		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Okumus, G.  et al. 2007	17164499				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Clin Appl Thromb Hemost    2007    13(1)    101-3	Platelet glycoprotein ia 807c/t and 873g/a polymorphisms in patients with venous thromboembolism		192974		CDC	2007												
150349		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076			16322334				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2	Danish		CDC GDP info	3690	Hs.218040			Endocr Relat Cancer    2005    12(4)    945-52	Increased risk of ovarian cancer in integrin beta3 Leu33Pro homozygotes		173470		CDC	2005												
150353		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	17	17q21.32	ITGB3	42686206	42745076		Coulam, C. B.  et al. 2006	16635210				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		173470		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
150417			CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.1-q22.2	KCNE1	34740857	34806443		Tester, D. J.  et al. 2006	16818214				potassium voltage-gated channel, Isk-related family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000219.2			CDC GDP info	3753	Hs.121495			Heart Rhythm    2006    3(7)    815-21	Allelic dropout in long QT syndrome genetic testing		176261		CDC	2006	Allelic dropout secondary to intronic SNP-primer mismatch prevented the discovery of LQTS-causing mutations in four cases. Considering that many LQTS genetic testing research laboratories have used these primers, patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupt											
150514		leukemia	CANCER	CAN	Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Genetic Predisposition to Disease	19	19q13.4	KIR2DL5A				Chen, A. M.  et al. 2007	17490516				killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5				CDC GDP info	57292	HS.512659			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2007    15(1)    35-8	Polymorphism of killer cell immunoglobulin-like receptor gene and its correlation with leukemia		605305		CDC	2007												
150555			NORMALVARIATION	NV		19	19q13.4	KIR3DL1	59989604	60070482		Middleton, D.  et al. 2007	17200871				Killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013289.1			CDC GDP info	3811	Hs.512572			Immunogenetics    2007    59(2)    145-58	KIR haplotype content at the allele level in 77 Northern Irish families		604946		CDC	2007												
150675	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	7	7q31.3	LEP	127668566	127684917		Ribeiro, R.  et al. 2006	16630717			promoter	Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			Eur J Cancer    2006	A functional polymorphism in the promoter region of leptin gene increases susceptibility for non-small cell lung cancer		164160		CDC	2006	suggest the existence of genetic susceptibility for lung cancer in carriers of this LEP functional polymorphism.											
150792		factor VIII levels	HEMATOLOGICAL	HEM	Thrombosis	12	12q13-q14	LRP1	55808548	55893392		Marchetti, G.  et al. 2006	16956829				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDP info	4035	Hs.162757			Haematologica    2006    91(9)    1261-3	Contribution of low density lipoprotein receptor-related protein genotypes to coagulation factor VIII levels in thrombotic women		107770		CDC	2006												
150865		hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Failure|Recurrence	6	6p21.3	LTA	31647718	31650077		Kimball, P.  et al. 2006	16447204				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Liver Transpl    2006    12(2)    247-252	Allograft TNFbeta and IL16 polymorphisms influence HCV recurrence and severity after liver transplantation		153440		CDC	2006	allograft TNFbeta and IL16 gene polymorphisms may be useful markers to predict the severity of disease recurrence among HCV+ patients after liver transplantation.											
150884		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	6	6p21.3	LTA	31647718	31650077			17380888				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Mol Biol (Mosk)    2007    41(1)    26-36	Association of cytokines genes (ILL, IL1RN, TNF, LTA, IL6, IL8, IL0) polymorphic markers with chronic obstructive pulmonary disease		153440		CDC	2007												
151013	Y	glucose tolerance insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	20	20q13.2-q13.3	MC3R	54257195	54258278		Rutanen, J.  et al. 2006	17192297				Melanocortin 3 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019888.2	Finnish		CDC GDP info	4159	Hs.248018			J Clin Endocrinol Metab    2006	Single nucleotide polymorphisms of the Melanocortin-3 Receptor gene are associated with substrate oxidation and first-phase insulin secretion in offspring of type 2 diabetic subjects		155540		CDC	2006	Our results suggest that SNPs of MC3R may regulate substrate oxidation and first-phase insulin secretion.											
151125	Y	inflammatory response in coronary bypass	IMMUNE	IMM	Genetic Predisposition to Disease|Inflammation	22	22q11.23	MIF	22566564	22567409			16527487				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1			CDC GDP info	4282	Hs.407995			Eur J Cardiothorac Surg    2006	A single nucleotide polymorphism of macrophage migration inhibitory factor is related to inflammatory response in coronary bypass surgery using cardiopulmonary bypass		153620		CDC	2006	Patients carrying the C-allele showed significantly increased levels of the proinflammatory cytokine MIF compared to G/G homozygous when revascularization was carried out using CPB. The G/C genotype may be associated with a severe inflammatory reaction and therefore preoperative screening could be beneficial for patients undergoing cardiac surgery using CPB.											
151424	P	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital	1	1p36.3	MTHFR	11768373	11788702		Li, Y.  et al. 2005	15719048				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Beijing Da Xue Xue Bao    2005    37(1)    75-80	Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease		607093		CDC	2005	The study showed presence of ethnic and district difference of gene polymorphisms at these four loci.											
151468	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	1	1p36.3	MTHFR	11768373	11788702		Boyles, A. L.  et al. 2006	17035141				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Caucasian		CDC GDP info	4524	Hs.214142			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes	rs1801133	607093		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
151483	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1|Lymphoma|Liver Diseases|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Imanishi, H.  et al. 2006	17180579				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Hum Genet    2006	Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma		607093		CDC	2006	GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate.											
151494	N	GSTM1 methylation infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Dhillon, V. S.  et al. 2007	17277043				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Mol Hum Reprod    2007	Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men		607093		CDC	2007			folate									
151655	Y	H. pylori infection	INFECTION	INF	Helicobacter Infections|Genetic Predisposition to Disease	11	11p15.5-p15.4	MUC6	1002821	1006785		Nguyen, T. V.  et al. 2006	17009402				Mucin 6, oligomeric mucus/gel-forming	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=XM_290540			CDC GDP info	4588	Hs.528432			World J Gastroenterol    2006    12(37)    6021-5	Short mucin 6 alleles are associated with H pylori infection		158374		CDC	2006	Short MUC6 alleles are associated with H pylori infection.											
151934		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Kaise, M.  et al. 2007	17272999			promoter	Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Eur J Gastroenterol Hepatol    2007    19(2)    139-45	Inducible nitric oxide synthase gene promoter polymorphism is associated with increased gastric mRNA expression of inducible nitric oxide synthase and increased risk of gastric carcinoma		163730		CDC	2007	Helicobacter pylori induces higher inducible nitric oxide synthase mRNA expression in carriers of long CCTTT repeats of inducible nitric oxide synthase promoter, and this polymorphism is associated with an increased risk of gastric carcinoma.											
151944	P		CANCER	CAN	Neoplasms	7	7q36	NOS3	150319079	150342609		Yoshimura, K.  et al. 2003	14634838				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		163729		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
152383	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	6	6q25.2-q27	PARK2	161689661	163068790		Sutherland, G.  et al. 2007	17280783			promoter	Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1			CDC GDP info	5071	Hs.132954			Neurosci Lett    2007	A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease		602544		CDC	2007												
152526	Y	psychosis, methamphetamine	PHARMACOGENOMIC	PHARM	Psychoses, Substance-Induced|Amphetamine-Related Disorders|Genetic Predisposition to Disease	22	22q13.1	PICK1	36783207	36801654		Matsuzawa, D.  et al. 2007	17606663			promoter	Protein interacting with PRKCA 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK092818			CDC GDP info	9463	Hs.180871			Am J Psychiatry    2007    164(7)    1105-14	Identification of Functional Polymorphisms in the Promoter Region of the Human PICK1 Gene and Their Association With Methamphetamine Psychosis		605926		CDC	2007	Our findings suggest that the PICK1 gene may be implicated in the susceptibility to spontaneous relapse of methamphetamine psychosis and that, as an intracellular adapter protein, PICK1 may play a role in the pathophysiology of methamphetamine psychosis.											
152557			CARDIOVASCULAR	CARD	Cardiovascular Diseases	8	8p12	PLAT	42151909	42184351		Moral, P.  et al. 2003	14746139				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	European		CDC GDP info	5327	Hs.491582			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		173370		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
152563			CARDIOVASCULAR	CARD	Arterial Occlusive Diseases|Thromboembolism|Venous Thrombosis|Thrombophilia|Genetic Predisposition to Disease	8	8p12	PLAT	42151909	42184351		Hoppe, B.  et al. 2006	17003923				Plasminogen activator, tissue	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000930.2	German		CDC GDP info	5327	Hs.491582			Thromb Haemost    2006    96(4)    465-70	Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism		173370		CDC	2006												
152817		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Hypertension|Chronic Disease	11	11q14	PRCP	82213056	82289205		Wang, L.  et al. 2006	16681991				Prolylcarboxypeptidase (angiotensinase C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199418		Boston	CDC GDP info	5547	Hs.523936			Am J Obstet Gynecol    2006    195(1)    162-71	Prolylcarboxypeptidase gene, chronic hypertension, and risk of preeclampsia		176785		CDC	2006	Our data showed that prolylcarboxypeptidase D allele coupled with chronic hypertension was associated with a significantly increased risk of preeclampsia in both black and non-black women. Gene expression assays lent further support for the functional significance of prolylcarboxypeptidase in the etiology of preeclampsia.		blood pressure									
152856			NORMALVARIATION	NV		2	2q13-q14	PROC	127892486	127903288		Chumpia, W.  et al. 2006	16607073				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2	Thai		CDC GDP info	5624	Hs.224698			Blood Coagul Fibrinolysis    2006    17(1)    13-18	Single nucleotide polymorphisms and haplotypes of protein C and protein S genes in the Thai population		176860		CDC	2006												
152979			CANCER	CAN	Neoplasms|Inflammation	1	1q25.2-q25.3	PTGS2	184907591	184916179		Huang, H. Y.  et al. 2007	17355643				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1	African American;Caucasian		CDC GDP info	5743	Hs.196384			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		600262		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
153286	Y	liver disease, polycystic	OTHER	OTH	Cysts|Liver Diseases	6	6q21	SEC63	108298214	108386086		Waanders, E.  et al. 2006	16835903				SEC63 homolog (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007214			CDC GDP info	11231	Hs.529957			Hum Mutat    2006    27(8)    830	Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease		608648		CDC	2006	both PRKCSH and SEC63 mutations are associated with polycystic liver disease.											
153335		asthma	IMMUNE	IMM	Asthma	14	14q32.1	SERPINA1	93914450	93926782		Montealegre, F.  et al. 2006	17203708				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000295.3		Puerto Rico	CDC GDP info	5265	Hs.525557			P R Health Sci J    2006    25(2)    117-25	Alfa 1 antitrypsin and protease levels in Puerto Rican asthmatics		107400		CDC	2006												
153419		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Infarction	7	7q21.3-q22	SERPINE1	100557104	100568431		Tsantes, A. E.  et al. 2007	17581326				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Blood Coagul Fibrinolysis    2007    18(5)    497-504	Plasminogen activator inhibitor-1 4G/5G polymorphism and risk of ischemic stroke		173360		CDC	2007												
153520	Y	uric acid	METABOLIC	MET	Gout|Genetic Predisposition to Disease|Hyperuricemia	11	11q13.1	SLC22A12	64114857	64126396		Shima, Y.  et al. 2006	16920156			Intron	Solute carrier family 22 (organic anion/cation transporter), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144585.2			CDC GDP info	116085	Hs.174424			Life Sci    2006	Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese		607096		CDC	2006												
153859	Y	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		12	12p	SLCO1B1	21175402	21283997		Katz, D. A.  et al. 2006	16513443				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDP info	10599	Hs.449738			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		604843		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
153973	N	bladder cancer	CANCER	CAN		6	6q25.3	SOD2	160020138	160034343		Cengiz, M.  et al. 2007	17340208				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Int Urol Nephrol    2007	The investigation of GSTT1, GSTM1 and SOD polymorphism in bladder cancer patients		147460		CDC	2007												
154032		sperm concentration sperm motility	REPRODUCTION	REP		2	2p23	SRD5A2	31603159	31659544		Elzanaty, S.  et al. 2006	16487406				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Int J Androl    2006	Significant impact of 5alpha-reductase type 2 polymorphisms on sperm concentration and motility		607306		CDC	2006												
154044		prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Cunningham, J. M.  et al. 2007	17507624				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDP info	6716	Hs.458345			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		607306		CDC	2007												
154256	Y	cleft lip with cleft palate	DEVELOPMENTAL	DEV		2	2p13	TGFA	70527924	70634438		Yuan, K. F.  et al. 2006	17334078				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1			CDC GDP info	7039	Hs.170009			Hua Xi Kou Qiang Yi Xue Za Zhi    2006    24(6)    533-5	Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate		190170		CDC	2006	TGF-alpha gene polymorphism is closely associated with non-syndromic cleft lip with cleft palate in Shandong, especially in patients with positive family history.		family history									
154295	Y	testicular cancer	CANCER	CAN	Seminoma|Testicular Neoplasms	19	19q13.2	TGFB1	46528490	46551656		Purdue, M. P.  et al. 2007	17220333				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Hispanic Caucasian;non-Hispanic	United States	CDC GDP info	7040	Hs.155218			Cancer Epidemiol Biomarkers Prev    2007    16(1)    77-83	A case-control investigation of immune function gene polymorphisms and risk of testicular germ cell tumors		190180		CDC	2007	our findings suggest that polymorphisms in TGFB1 and LTA/TNF, and possibly other immune function genes, may influence susceptibility to TGCT.											
154300	N	diabetes, type 1 diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	19	19q13.2	TGFB1	46528490	46551656		McKnight, A. J.  et al. 2007	17319955				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Caucasian;Irish		CDC GDP info	7040	Hs.155218			BMC Med Genet    2007    8(1)    5	Resequencing of genes for transforming growth factorB1 (TGFB1), type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy		190180		CDC	2007	Our results suggest common variants in TGFB1, TGFBR1 and TGFBR2 genes do not strongly influence genetic susceptibility to diabetic nephropathy in an Irish Caucasian population.											
154464		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Garza Gonzalez, E.  et al. 2007	17462092				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Mexican	Mexico	CDC GDP info	7099	Hs.174312			BMC Cancer    2007    7(1)    70	Assessment of the toll-like receptor 4 Asp299gly, thr399Ile and interleukin-8 -251 polymorphisms in the risk for the development of distal gastric cancer		603030		CDC	2007	This study showed that the IL8-251*A allele could be related to the development of distal gastric cancer in this Mexican population.											
154528	N	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Courtin, D.  et al. 2006	16720107				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		191160		CDC	2006												
154535		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		De Silvestri, A.  et al. 2006	16788244				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Dis Markers    2006    22(3)    111-7	Non classical HLA genes and non-HLA genes in a population of infants at familial risk of atopy		191160		CDC	2006	Our study confirms that HLA class III region seems involved in familial predisposition to atopy, and C4B gene probably acts as a marker of a more restricted subregion.											
154586	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Cucchiara, S.  et al. 2007	17255827	TNF -308A			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570	significant reduction in response to steroid therapy		J Pediatr Gastroenterol Nutr    2007    44(2)    171-9	Polymorphisms of tumor necrosis factor-alpha but not MDR1 influence response to medical therapy in pediatric-onset inflammatory bowel disease		191160		CDC	2007	In our pediatric cohort, the promoter -308A polymorphism of TNF-alpha but not the MDR1 gene is significantly involved in the predisposition to both CD and UC. This polymorphism carries a significant reduction in response to steroid therapy, probably leading to a more frequent need for surgical resection.											
154597		cardiovascular risk factors PAI-1 levels TNF levels	CARDIOVASCULAR	CARD	Myocardial Infarction	6	6p21.3	TNF	31651328	31654091		Hong, M. G.  et al. 2007	17356550				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Eur J Hum Genet    2007	Phenotype selection for detecting variable genes		191160		CDC	2007												
154626	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2|Diabetes Complications	6	6q23	TNFAIP3	138230273	138246142		Boonyasrisawat, W.  et al. 2007	17259397				Tumor necrosis factor, alpha-induced protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC041790			CDC GDP info	7128	Hs.591338			Diabetes    2007    56(2)    499-505	Tag Polymorphisms at the A20 (TNFAIP3) Locus Are Associated With Lower Gene Expression and Increased Risk of Coronary Artery Disease in Type 2 Diabetes				CDC	2007												
154655			NORMALVARIATION	NV		1	1p36.3	TNFRSF18	1128750	1131952		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 18	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004195	Japanese;Korean;Asian		CDC GDP info	8784	Hs.212680			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603905		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154664		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	12	12p13.2	TNFRSF1A	6308183	6321522		Ali, S.  et al. 2007	17477815				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDP info	7132	Hs.279594			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		191190		CDC	2007												
154670		bone density	METABOLIC	MET		1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Yang, T. L.  et al. 2007	17331078				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2	Caucasian		CDC GDP info	7133	Hs.256278			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		191191		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
154676			NORMALVARIATION	NV		20	20q13.3	TNFRSF6B	61796537	61800479		Cho, S. M.  et al. 2004	15301860				Tumor necrosis factor receptor superfamily, member 6b, decoy	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF217795	Japanese;Korean;Asian		CDC GDP info	8771	Hs.434878			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		603361		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
154712		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17p13.1	TP53	7505821	7531642		Schabath, M. B.  et al. 2006	16434604				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	Hispanic Caucasian;non-Hispanic		CDC GDP info	7157	Hs.408312			Cancer Epidemiol Biomarkers Prev    2006    15(1)    158-61	Combined Effects of the p53 and p73 Polymorphisms on Lung Cancer Risk		191170		CDC	2006			smoking (tobacco)									
154747	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p36.3	TP73	3558988	3640317		Yuan, P.  et al. 2006	16750013				Tumor protein p73	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005427.1			CDC GDP info	7161	Hs.192132			Zhonghua Zhong Liu Za Zhi    2006    28(2)    107-10	Association of the responsiveness of advanced non-small cell lung cancer to platinum-based chemotherapy with p53 and p73 polymorphisms.		601990		CDC	2006	Those results suggest that p53 and p73 polymorphisms may be associated with clinical responsiveness to platinum-based chemotherapy in advanced NSCLC.		chemotherapy									
154872	N	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	18	18p11.32	TYMS	647650	663492		Takatori, R.  et al. 2006	17181924				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Clin Exp Rheumatol    2006    24(5)    546-54	ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients		188350		CDC	2006	These results suggested that the genetic diagnosis of ABCB1 C3435T can be applied to determine MTX sensitivity for the treatment of RA patients.											
155000		morphine response	PHARMACOGENOMIC	PHARM	Pain, Postoperative|Postoperative Nausea and Vomiting	4	4q13	UGT2B7	69996813	70013293		Coulbault, L.  et al. 2006	16580900				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Clin Pharmacol Ther    2006    79(4)    316-324	Environmental and genetic factors associated with morphine response in the postoperative period		600068		CDC	2006	Age and prior use of psychotropic agents are associated with postoperative morphine dose requirements.											
155076	Y	heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	6	6p12	VEGFA	43845930	43862201		Tambur, A. R.  et al. 2006	16730575				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		192240		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
155283	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q32.3	XRCC3	103233706	103251549			16407418				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		600675		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
142525	N	Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6		HLA	29903802	30085613	n	Mizuki N et al. 1992	1359669							Japan	KGB					Tissue antigens. 1992 Jul;40(1):22-30	Association of HLA-B51 and lack of association of class II alleles with Behcet's disease.			7890	1	1992												
143703		stomach cancer	CANCER	CAN	Stomach Neoplasms	7	7q21.1	ABCB1	86970883	87180500		Tahara, T.  et al. 2007	17608636				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Gastroenterol Hepatol    2007	Multi-drug resistance 1 polymorphism is associated with reduced risk of gastric cancer in the Japanese population		171050		CDC	2007	Our data suggest that 3435T/T polymorphism of MDR1 is associated with a reduced risk of gastric cancer in the Japanese population.											
143745		gefitinib pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	4	4q22	ABCG2	89230439	89371498		Li, J.  et al. 2007	17312388				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Cancer Biol Ther    2007    6(3)	Association of Variant ABCG2 and the Pharmacokinetics of Epidermal Growth factor Receptor Tyrosine Kinase Inhibitors in Cancer Patients		603756		CDC	2007	gefitinib and erlotinib are ABCG2 substrates, while they inhibit ABCG2 at higher concentrations.											
143784			CARDIOVASCULAR	CARD	Cardiovascular Diseases	17	17q23	ACE	58908165	58952935		Moral, P.  et al. 2003	14746139				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	European		CDC GDP info	1636	Hs.298469			Coll Antropol    2003    27    523-36	Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean.		106180		CDC	2003	Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations. 											
143812		autonomic nervous system function	NEUROLOGICAL	NEUR		17	17q23	ACE	58908165	58952935		Nishikino, M.  et al. 2006	16954165				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Clin Endocrinol Metab    2006	Genetic Variation in the Renin-Angiotensin System and Autonomic Nervous System Function in Young Healthy Japanese Subjects		106180		CDC	2006	Cardiac autonomic function can be modulated by genetic variation in the RAS even in young and healthy states.											
144096		muscle testing	AGING	AGE		5	5q31-q32	ADRB2	148186348	148188381		Yao, L.  et al. 2007	17595424				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			J Gerontol A Biol Sci Med Sci    2007    62(6)    658-63	Adrenergic receptor genotype influence on midthigh intermuscular fat response to strength training in middle-aged and older adults		109690		CDC	2007	ADR genotype influences IMF response to strength training.		strength training									
144181	N	Joubert syndrome nephronophthisis	NEUROLOGICAL	NEUR	Cerebellar Ataxia|Mental Retardation|Kidney Diseases, Cystic|Abnormalities, Multiple|Syndrome	6	6q23.3	AHI1	135646816	135860576		Tory, K.  et al. 2007	17409309				Abelson helper integration site 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017651			CDC GDP info	54806	Hs.386684			J Am Soc Nephrol    2007	High NPHP1 and NPHP6 Mutation Rate in Patients with Joubert Syndrome and Nephronophthisis		608894		CDC	2007	NPHP1 and NPHP6 are major genes of nephronophthisis associated with JS.											
144264		colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms	12	12q24.2	ALDH2	110688728	110732167		Yin, G.  et al. 2007	17517051				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			Cancer Sci    2007	Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer		100650		CDC	2007			alcohol									
144466		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		19	19q13.2	APOE	50100878	50104490		Comings, D. E.  et al. 2000	11140838				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		107741		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144708		organophosphate toxicity	PHARMACOGENOMIC	PHARM		3	3q26.1-q26.2	BCHE	166973386	167037944		Kuang, X. Y.  et al. 2006	16824336				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDP info	590	Hs.420483			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(6)    333-6	Activity of esterases and effect of genetic polymorphism in workers exposed to organophosphorus pesticides.		177400		CDC	2006	The long-term exposure to OPs could inhibit the activities of CarbE, BchE, PonE and ACh E in different level. The genetic polymorphisms of PON192 and PON55 affect the activity of PonE, which is related to the detoxification of OPs and health impact.											
144877	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Tommasi, S.  et al. 2007	17452776				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2	Caucasian		CDC GDP info	672	Hs.194143			Cell Oncol    2007    29(3)    241-8	655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations		113705		CDC	2007	these findings point to the existence of an association of ERBB2 allelic variants at both loci with specific breast tumor phenotypes and to the need of deeply investigate different gene SNPs association for risk defining.		family history									
145191	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease	3	3p21	CCR5	46387429	46392701		Savarrio, L.  et al. 2007	17305874				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			J Periodontal Res    2007    42(2)    152-158	Interleukin-24, RANTES and CCR5 gene polymorphisms are not associated with chronic adult periodontitis		601373		CDC	2007												
145267			NORMALVARIATION	NV		12	12p13	CD27	6424311	6431145		Cho, S. M.  et al. 2004	15301860				CD27 molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC012160	Japanese;Korean;Asian		CDC GDP info	939	Hs.355307			Hum Immunol    2004    65    710-8	Identification of single nucleotide polymorphisms in the tumor necrosis factor (TNF) and TNF receptor superfamily in the Korean population.		186711		CDC	2004	A higher similarity of allele frequency was observed between Korean and Japanese populations (r = 0.90, p < 0.001). The validated SNPs in the TNF-TNFR superfamily would be valuable for association studies with several immune-mediated human diseases. 											
145413	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Thakkinstian, A.  et al. 2006	16905558				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Hum Mol Genet    2006	Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration		134370		CDC	2006												
145804			CANCER	CAN	Neoplasms|Inflammation	1	1p21-p13	CSF1	110254979	110273878		Huang, H. Y.  et al. 2007	17355643				Colony stimulating factor 1 (macrophage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC021117	African American;Caucasian		CDC GDP info	1435	Hs.591402			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		120420		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
146164	P		NORMALVARIATION	NV		15	15q24	CYP1A2	72828236	72835994		Pucci, L.  et al. 2007	17603224				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Caucasian;Italian		CDC GDP info	1544	Hs.1361			Drug Metab Pharmacokinet    2007    22(3)    220-2	CYP1A2 F21L and F186L Polymorphisms in an Italian Population Sample		124060		CDC	2007												
146239		nicotine dependence smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	19	19q13.2	CYP2A6	46041283	46048180		Ozaki, S.  et al. 2006	16720336				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Front Biosci    2006    11    2590-7	Smoking cessation program and CYP2A6 polymorphism		122720		CDC	2006												
146336		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q23.33	CYP2C8	96786518	96819244		Wadelius, M.  et al. 2006	17048007				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Hum Genet    2006	Association of warfarin dose with genes involved in its action and metabolism		601129		CDC	2006												
146382	P	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Tanira, M. O.  et al. 2007	17167248				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Omani;Asian		CDC GDP info	1559	Hs.282624			Community Genet    2007    10(1)    32-7	Frequency of CYP2C9 Genotypes among Omani Patients Receiving Warfarin and Its Correlation with Warfarin Dose		601130		CDC	2007	This is the first report on the presence of CYP2C9*2 allele homozygocity in any Asian or African population.											
146662	P		NORMALVARIATION	NV		4	4q13.3-q21.1	DCK	72078255	72115477		Joerger, M.  et al. 2006	16799820				Deoxycytidine kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000788.1	Caucasian		CDC GDP info	1633	Hs.709			Eur J Clin Pharmacol    2006	Novel deoxycytidine kinase gene polymorphisms		125450		CDC	2006	The higher allelic frequency of the promoter polymorphism -C360G/-C201T in Asians than in Caucasians might predispose Asians to nucleoside drug-associated toxicity. These data will be used to assess the effect of DCK candidate SNPs (promoter, exons 3 and 6) in patients receiving gemcitabine anticancer treatment.											
146813	P		CANCER	CAN	Neoplasms	3	3q13.3	DRD3	115330246	115380589		Yoshimura, K.  et al. 2003	14634838				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		126451		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146978			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	4	4q31.22-q31.23	EDNRA	148621579	148685555		Lee, J. K.  et al. 2003	12768436				Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1	Japanese;Caucasian;Korean		CDC GDP info	1909	Hs.183713			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		131243		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
147030		head and neck cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Head and Neck Neoplasms	7	7p12	EGFR	55054218	55242525		Bandres, E.  et al. 2006	17112774				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Oral Oncol    2006	Epidermal growth factor receptor (EGFR) polymorphisms and survival in head and neck cancer patients		131550		CDC	2006			chemotherapy									
147439	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Biron-Andreani, C.  et al. 2006	17107352				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		176930		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
147445			HEMATOLOGICAL	HEM	Blood Coagulation Disorders, Inherited|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Said, J. M.  et al. 2006	17278618				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Australian;European;Asian	Australia	CDC GDP info	2147	Hs.410092			Hum Biol    2006    78(4)    403-12	Ethnic differences in the prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian prenatal population		176930		CDC	2006												
147513		Factor VII coagulant levels	CARDIOVASCULAR	CARD	Coronary Artery Disease	13	13q34	F7	112808105	112822996		Quek, S. C.  et al. 2006	17044869				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131	Chinese;Indian;Singapore;Asian	Malaysia|Singapore|India|China	CDC GDP info	2155	Hs.36989			Ann Hum Genet    2006    70(Pt 6)    951-7	The Effects of Three Factor VII Polymorphisms on Factor VII Coagulant Levels in Healthy Singaporean Chinese, Malay and Indian Newborns		227500		CDC	2006												
147680	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11q24.2	FEZ1	124820857	124871333		Koga, M.  et al. 2007	17374448				Fasciculation and elongation protein zeta 1 (zygin I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005103.3	Scottish	Japan	CDC GDP info	9638	Hs.224008			Neurosci Lett    2007	Failure to confirm the association between the FEZ1 gene and schizophrenia in a Japanese population		604825		CDC	2007												
148261		brain cancer	CANCER	CAN	Glioma|Neuroma, Acoustic|Meningioma|Brain Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		De Roos, A. J.  et al. 2006	16598069				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Neuro-oncol    2006    8(2)    145-55	Variation in genes relevant to aromatic hydrocarbon metabolism and the risk of adult brain tumors		138390		CDC	2006			smoking (tobacco)									
148276	P		NORMALVARIATION	NV		10	10q25.1	GSTO1	106004667	106017203		Fujihara, J.  et al. 2007	17484623				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1	Asian		CDC GDP info	9446	Hs.190028			Clin Chem Lab Med    2007    45(5)    621-4	Frequency of two human glutathione-S-transferase omega-1 polymorphisms (E155 deletion and E208K) in Ovambo and Japanese populations using the PCR-based genotyping method		605482		CDC	2007	The present study developed a PCR-based hGSTO1 genotyping method that could be applied to a large number of individuals at most locations.											
148312	N	thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Marciniak, P.  et al. 2006	17133316				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Endokrynol Pol    2006    57(5)    509-515	Transferase S-glutathione class p gene (GSTP1) polymorphism in thyroid cancer patients.		134660		CDC	2006	Statistically insignificant association of GSTP1 gene polymorphism with thyroid cancer was observed in studied group of patients.											
148410	P		NORMALVARIATION	NV		22	22q11.23	GSTT1	22706140	22714231		Bailliet, G.  et al. 2006	17194620				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian;Indian;Native American;Asian	Argentina|Paraguay	CDC GDP info	2952	Hs.268573			Mutat Res    2006	Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay		600436		CDC	2006												
148548		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Palikhe, A.  et al. 2007	17212707				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		142800		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
148593			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Chen, S.  et al. 2006	17117954				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Japanese;Chinese;Korean;Asian	Tibet	CDC GDP info	3106	Hs.77961			Int J Immunogenet    2006    33(6)    439-45	Allelic distribution of HLA class I genes in the Tibetan ethnic population of China		142830		CDC	2006												
148597		Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-B	31344507	31432914		Gunesacar, R.  et al. 2007	17284227				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Turkish		CDC GDP info	3106	Hs.77961			Int J Immunogenet    2007    34(1)    45-9	Analysis of CD28 and CTLA-4 gene polymorphisms in Turkish patients with Behcet's disease		142830		CDC	2007												
148631		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-C	31344507	31432914		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		142840		CDC	2007			measles vaccine									
148904	Y	posttreatment Th2 immune response to S. mansoni Ags	INFECTION	INF	Schistosomiasis|Recurrence	6	6p21.3	HLA-DRB1	32593131	32665559		Booth, M.  et al. 2006	16709874	DRB1*13			major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Immunol    2006    176(11)    7112-8	Carriage of DRB1*13 Is Associated with Increased Posttreatment IgE Levels against Schistosoma mansoni Antigens and Lower Long-Term Reinfection Levels		142857		CDC	2006												
149049	P		NORMALVARIATION	NV		6	6p21.3	HLA-E	30565249	30569072		Arnaiz-Villena, A.  et al. 2007	17445187				Major histocompatibility complex, class I, E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005516.4	Caucasian;Indian;Mexican;Asian	Chile|Colombia	CDC GDP info	3133	Hs.118354			Tissue Antigens    2007    69 Suppl 1    132-5	HLA-E polymorphism in Amerindians from Mexico (Mazatecans), Colombia (Wayu) and Chile (Mapuches)		143010		CDC	2007												
149405		heart transplant complications	CARDIOVASCULAR	CARD	Coronary Disease	12	12q14	IFNG	66834816	66839788		Tambur, A. R.  et al. 2006	16730575				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Heart Lung Transplant    2006    25(6)    690-8	Genetic Polymorphism in Platelet-derived Growth Factor and Vascular Endothelial Growth Factor Are Significantly Associated With Cardiac Allograft Vasculopathy		147570		CDC	2006	These data suggest an association between PDGF and VEGF polymorphism and CAV.											
149443			CANCER	CAN	Neoplasms|Inflammation	12	12q14	IFNG	66834816	66839788		Huang, H. Y.  et al. 2007	17355643				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	African American;Caucasian		CDC GDP info	3458	Hs.856			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		147570		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
149483		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	9	9p22	IFNW1	21130630	21132144		Morris, G. A.  et al. 2006	16504056				Interferon, omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002177			CDC GDP info	3467	Hs.73010			BMC Genet    2006    7(1)    12	Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes		147553		CDC	2006	We have developed informative sets of SNPs for the interferon and interferon related genes.											
149548		growth response to growth hormone therapy	PHARMACOGENOMIC	PHARM		7	7p13-p12	IGFBP3	45918368	45927396		Toyoshima, M. T.  et al. 2007	17555512				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Clin Endocrinol (Oxf)    2007	Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature		146732		CDC	2007	 This study demonstrates that ISS children carrying the GHRd3 allele, as a group, present a slightly higher GH sensitivity regarding short-term IGF-1 generation during hGH stimulus than children homozygous for GHRfl allele.											
149586		atopy	IMMUNE	IMM		1	1q31-q32	IL10	205007570	205012462		Imboden, M.  et al. 2006	16759385				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Caucasian;European		CDC GDP info	3586	Hs.193717			Clin Mol Allergy    2006    4(1)    9	Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA)		124092		CDC	2006	Comprehensive characterization of genetic variation in extended cytokine candidate gene regions is now needed.											
150017			NORMALVARIATION	NV		5	5q31.1	IL4	132037271	132046267		Kaur, G.  et al. 2007	17257312				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Indian		CDC GDP info	3565	Hs.73917			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147780		CDC	2007												
150103		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Carlo-Stella, N.  et al. 2006	16762155				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Italian		CDC GDP info	3569	Hs.512234			Clin Exp Rheumatol    2006    24(2)    179-82	A first study of cytokine genomic polymorphisms in CFS		147620		CDC	2006	We hypothesize that CFS patients can have a genetic predisposition to an immunomodulatory response of an inflammatory nature probably secondary to one or more environmental insults of unknown nature.											
150172	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	4	4q13-q21	IL8	74825138	74828297			16403098				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		146930		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
150205		laryngeal cancer pharyngeal cancer	CANCER	CAN	Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms|Inflammation	4	4q13-q21	IL8	74825138	74828297		Campa, D.  et al. 2007	17356794				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Cancer Causes Control    2007    18(4)    449-55	Association of common polymorphisms in inflammatory genes with risk of developing cancers of the upper aerodigestive tract		146930		CDC	2007	To our knowledge, this is the first report on the role of these polymorphisms with respect to UADT carcinogenesis.											
150227	Y	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	2	2q35	IL8RB	218698242	218710220		Brown, E. E.  et al. 2006	16702372				Interleukin 8 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001557.2	Italian	Italy	CDC GDP info	3579	Hs.846			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		146928		CDC	2006												
150376	Y	diabetes, type 2	METABOLIC	MET	Myocardial Infarction|Diabetic Angiopathies|Diabetes Mellitus, Type 2	17	17q21.32	ITGB3	42686206	42745076		Kozieradzka, A.  et al. 2007	17357883				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Acta Diabetol    2007    44(1)    30-3	The association between type 2 diabetes mellitus and A1/A2 polymorphism of glycoprotein IIIa gene		173470		CDC	2007												
150531		kidney transplant	RENAL	REN	Neoplasm Recurrence, Local|Graft vs Host Disease	19	19q13.4	KIR2DS2	274137	288432		Cirocco, R. E.  et al. 2007	17445184				Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012312.1			CDC GDP info	3807	Hs.632752			Tissue Antigens    2007    69 Suppl 1    123-4	Killer cell immunoglobulin-like receptor polymorphisms in HLA-identical kidney transplant recipients		604953		CDC	2007	the genotyping of HLA-matched sibling kidney transplant D/R pairs demonstrates that there may be an association of higher risk for poor graft function when both genotypes lack 2DL2 and 2DS2.											
150576		hypogonaotropic hypogonadism	METABOLIC	MET	Hypogonadism	19	19p13.3	KISS1R	868357	872013		Lanfranco, F.  et al. 2005	16322390				KISS1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC141812			CDC GDP info	84634	Hs.208229			Eur J Endocrinol    2005    153(6)    845-52	Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism				CDC	2005	Mutations of the GnRHR and of the GPR54 gene are rare in IHH and should be investigated especially in cases with autosomal recessive transmission.											
150814			NEUROLOGICAL	NEUR	Alzheimer Disease|Coronary Artery Disease	4	4p16.3	LRPAP1	3484092	3503942		Santovito, A.  et al. 2007	17536759				Low density lipoprotein receptor-related protein associated protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002337.1	European;Italian		CDC GDP info	4043	Hs.533136			Ann Hum Biol    2007    34(1)    102-6	Allelic frequencies at the ACE and LRPAP1 loci suggest age-related relationships in a northern Italian population		104225		CDC	2007												
151006			CANCER	CAN	Skin Neoplasms	16	16q24.3	MC1R	88512526	88530006		Gerstenblith, M. R.  et al. 2007	17279550				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Caucasian		CDC GDP info	4157	Hs.513829			Hum Mutat    2007	Comprehensive evaluation of allele frequency differences of MC1R variants across populations		155555		CDC	2007												
151337			CANCER	CAN	Neoplasms|Inflammation	17	17q23.1	MPO	53702215	53713295		Huang, H. Y.  et al. 2007	17355643				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	African American;Caucasian		CDC GDP info	4353	Hs.458272			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		606989		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
151722			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Lee, J. K.  et al. 2003	12768436				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Japanese;Caucasian;Korean		CDC GDP info	10	Hs.2			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		243400		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
151826		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	1	1p13.1	NGFB	115630059	115682380		Syed, Z.  et al. 2006	17192954				Nerve growth factor, beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002506.2			CDC GDP info	4803	Hs.2561			Am J Med Genet B Neuropsychiatr Genet    2006	An investigation of the neurotrophic factor genes GDNF, NGF, and NT3 in susceptibility to ADHD		162030		CDC	2006												
152054		acute chest syndrome asthma	IMMUNE	IMM	Asthma|Anemia, Sickle Cell|Syndrome|Acute Disease|Chest Pain	7	7q36	NOS3	150319079	150342609		Duckworth, L.  et al. 2007	17351927				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Pediatr Pulmonol    2007	Physician-diagnosed asthma and acute chest syndrome		163729		CDC	2007												
152145		myelodysplastic syndrome	OTHER	OTH		16	16q22.1	NQO1	68300804	68318034		Yang, L.  et al. 2005	16620556				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Zhonghua Xue Ye Xue Za Zhi    2005    26(11)    674-7	Investigation of GSTT1, GSTM1 and NQO1 genes polymorphisms in myelodysplastic syndromes		125860		CDC	2005	Determination of the GSTM1 and GSTT1 genotypes may be used as a stratification marker to predicate high-risk individuals for MDS.											
152175		CYP3A metabolic activity	PHARMACOGENOMIC	PHARM		3	3q12-q13.3	NR1I2	120982020	121020022		He, P.  et al. 2006	17050801				Nuclear receptor subfamily 1, group I, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003889.2	African American;European		CDC GDP info	8856	Hs.7303			J Clin Pharmacol    2006    46(11)    1356-69	Human pregnane X receptor		603065		CDC	2006	several hPXR polymorphisms have been identified that may have predictive value for oral midazolam clearance, particularly in African Americans.											
152237		oral cancer	CANCER	CAN		7	7p22	NUDT1	2248382	2257306		Gorgens, H.  et al. 2007	17207658				Nudix (nucleoside diphosphate linked moiety X)-type motif 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002452.3			CDC GDP info	4521	Hs.534331			Oral Oncol    2007	Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas		600312		CDC	2007												
152870	N	schizotypal traits	PSYCH	PSY	Genetic Predisposition to Disease|Schizotypal Personality Disorder|Schizophrenia	22	22q11.21	PRODH	17280294	17304066		Ma, X.  et al. 2007	17604122				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2			CDC GDP info	5625	Hs.517352			Psychiatry Res    2007	A quantitative association study between schizotypal traits and COMT, PRODH and BDNF genes in a healthy Chinese population		606810		CDC	2007	SNP Val158Met (rs4680) in the COMT gene may be associated with some schizotypal traits in male subjects, but our results are not conclusive.											
153228		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q33	SATB2	199842468	200038076		Beaty, T. H.  et al. 2006	16953426				SATB family member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015265.1	Singapore		CDC GDP info	23314	Hs.516617			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		608148		CDC	2006												
153504			NORMALVARIATION	NV		21	21q22.3	SLC19A1	45759056	45786779		Lu, Y.  et al. 2006	17113562				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1	Chinese;Caucasian;Indian;Singapore		CDC GDP info	6573	Hs.84190			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		600424		CDC	2006												
153523		hypertension	CARDIOVASCULAR	CARD	Hypertension	6	6q26	SLC22A2	160512082	160599949		Lazar, A.  et al. 2006	17060063				Solute carrier family 22 (organic cation transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003058.2	Caucasian		CDC GDP info	6582	Hs.436385			Clin Exp Hypertens    2006    28(7)    645-53	Lower Prevalence of the OCT2 Ser270 Allele in Patients with Essential Hypertension*		602608		CDC	2006	the first data on OCT2 are presented in the context of a candidate gene analysis.											
153591	P		NORMALVARIATION	NV		5	5p13.3	SLC45A2	33980477	34020537		Yuasa, I.  et al. 2006	17044855				solute carrier family 45, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016180.3	Japanese;Caucasian;French;German;Indian;Italian;Asian		CDC GDP info	51151	Hs.278962			Ann Hum Genet    2006    70(Pt 6)    802-11	Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder-Haplotype Analysis		606202		CDC	2006												
153882	N	atrial fibrillation LQTS sudden arrhythmic death syndrome	CARDIOVASCULAR	CARD	Atrial Fibrillation|Death, Sudden, Cardiac|Long QT Syndrome|Syndrome	11	11q22-q23	SLN	107083310	107087997		Nyberg, M. T.  et al. 2006	17010328				Sarcolipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF694738			CDC GDP info	6588	Hs.334629			Clin Chim Acta    2006	The variation of the sarcolipin gene (SLN) in atrial fibrillation, long QT syndrome and sudden arrhythmic death syndrome		602203		CDC	2006	Mutations in the coding region of SLN are not frequently involved in LQTS, SADS or AF.											
154397	Y	cytomegalovirus	INFECTION	INF	Cytomegalovirus Infections|Hepatitis C, Chronic	4	4q32	TLR2	154824890	154846692		Kijpittayarit, S.  et al. 2007	17443468				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Clin Infect Dis    2007    44(10)    1315-20	Relationship between Toll-like receptor 2 polymorphism and cytomegalovirus disease after liver transplantation		603028		CDC	2007	TLR2 Arg753Gln polymorphism is possibly associated with CMV replication and disease after liver transplantation.											
154601	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Chang, Y. T.  et al. 2007	17388919				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		191160		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
155105	Y	bladder cancer	CANCER	CAN	Carcinoma|Urinary Bladder Neoplasms	6	6p12	VEGFA	43845930	43862201		Garcia-Closas, M.  et al. 2007	17319747				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			PLoS Genet    2007    3(2)    e29	Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk		192240		CDC	2007	this large-scale evaluation of candidate cancer genes has identified common genetic variants in the regulatory regions of VEGF that could be associated with bladder cancer risk.											
141856		asthma	IMMUNE	IMM	Asthma	7	7q34	TRB@				Soriano, J. B.  et al. 2000	11142503				T cell receptor beta locus		Spanish	Spain	CDC GDPinfo	6957				European journal of epidemiology. 2000 ;16(8):745-50	Association study of proposed candidate genes/regions in a population of Spanish asthmatics.		186930	25741	2	2000	No association could be observed in this sample of Spanish asthmatics with the genes/regions studied.	Case:146 asthmatic subjects:Barcelona, Spain;Control:50 population controls:Barcelona, Spain										
142444	Y	diabetes mellitus type I	METABOLIC	MET	Diabetes Mellitus, Type 1	6		HLA	29903802	30085613		Poncet D et al. 1981	7021118								KGB					Deutsche medizinische Wochenschrift (1946). 1981 Jul;106(29-30):927-32	HLA association of insulin-dependent diabetes mellitus type I (author's transl) trans Die HLA-Assoziation des insulinpflichtigen Diabetes mellitus Typ I.			7809	1	1981												
142461		congenital adrenal hyperplasia	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6		HLA	29903802	30085613		Poncet D et al. 1983	6602118								KGB					Human immunology. 1983 May;7(1):35-44	Genetic linkage and HLA association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.			7826	1	1983												
142498	Y	diabetes mellitus	METABOLIC	MET	Tuberculosis, Pulmonary|Diabetes Mellitus, Type 2	6		HLA	29903802	30085613		Zhao Y et al. 2001	11802942								KGB					Zhonghua jie he he hu xi za zhi. 2001 Feb;24(2):75-9	Analysis of the association between HLA-DRB(1) DQB(1) gene and pulmonary tuberculosis complicated with diabetes mellitus			7863	1	2001	 The results indicate that the DRB(1) * 09 allele is susceptive to the pulmonary tuberculosis complicated with type 2 diabetes mellitus, the DQB(1) * 05 may be protective to the pulmonary tuberculosis complicated with diabetes mellitus. The DRB(1) * 09 allele and DQB(1) * 05 allele may affect the incidence of the pulmonary tuberculosis complicated with type 2 diabetes mellitus, or real effect genes link with them.											
142508		myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis	6		HLA	29903802	30085613		Vieira ML et al. 1993	8370765								KGB					Journal of neuroimmunology. 1993 Sep;47(2):115-22	Identification by genomic typing of non-DR3 HLA class II genes associated with myasthenia gravis.			7873	1	1993												
142802		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	M		MT-ND1				Huerta, C.  et al. 2005	15975594						Spanish	Spain	CDC GDPinfo					Journal of the neurological sciences. 2005 Sep;236(2-Jan):49-54	Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.		516000	12567	2	2005												
143562		Stargardt disease	VISION	VIS	Macular Degeneration	1	1p22.1-p21	ABCA4	94230981	94359293			16303926				ATP-binding cassette, sub-family A (ABC1), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000350.2		Hungary	CDC GDP info	24	Hs.416707			Invest Ophthalmol Vis Sci    2005    46(12)    4402-8	Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease		601691		CDC	2005	Hungarian patients with STGD presented with extensive foveolar thinning and macular volume loss.											
143575	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Gt, H.  et al. 2006	16434479				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Hum Mol Genet    2006	The ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis		171050		CDC	2006												
143616	Y	liver transplant	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Fukudo, M.  et al. 2006	17015051				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    80(4)    331-45	Population pharmacokinetic and pharmacogenomic analysis of tacrolimus in pediatric living-donor liver transplant recipients		171050		CDC	2006	The enterocyte MDR1 mRNA level and the CYP3A5*1 allele in the graft liver contribute differently to the interindividual variability in the oral clearance of tacrolimus after living-donor liver transplantation.		tacrolimus									
143622		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	7	7q21.1	ABCB1	86970883	87180500		Wasilewska, A.  et al. 2006	17043887				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pediatr Nephrol    2006	MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children		171050		CDC	2006												
143629	N	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	7	7q21.1	ABCB1	86970883	87180500		van der Holt, B.  et al. 2006	17112800				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Pharmacol Ther    2006    80(5)    427-439	ABCB1 gene polymorphisms are not associated with treatment outcome in elderly acute myeloid leukemia patients		171050		CDC	2006			chemotherapy									
143660	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Nordgard, S. H.  et al. 2007	17301692				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Caucasian		CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2007    17(2)    127-136	ABCB1 and GST polymorphisms associated with TP53 status in breast cancer		171050		CDC	2007	An association between polymorphisms in GSTP1 and ABCB1 and risk of acquiring intratumoral TP53 mutations suggests the existence of putative predisposing genotype backgrounds.											
143665		gabapentin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Kang, H. A.  et al. 2007	17328248				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Korean		CDC GDP info	5243	Hs.489033			Arch Pharm Res    2007    30(1)    96-101	The effect of MDR1 G2677T/A polymorphism on pharmacokinetics of gabapentin in healthy Korean subjects		171050		CDC	2007	this study suggests that GBP may be a weak substrate for the P-glycoprotein (P-gp) transporter.											
143679	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Leschziner, G. D.  et al. 2007	17460550				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Pharmacogenet Genomics    2007    17(3)    217-20	Common ABCB1 polymorphisms are not associated with multidrug resistance in epilepsy using a gene-wide tagging approach		171050		CDC	2007												
143693		leukemia	CANCER	CAN		7	7q21.1	ABCB1	86970883	87180500		Urayama, K. Y.  et al. 2007	17548681				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	non-Hispanic		CDC GDP info	5243	Hs.489033			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1172-7	MDR1 Gene Variants, Indoor Insecticide Exposure, and the Risk of Childhood Acute Lymphoblastic Leukemia		171050		CDC	2007	These preliminary data suggest that children carrying the haplotype CGC may be less susceptible to the leukemogenic effects of indoor insecticide exposures.		insecticide exposure									
143740		9-aminocamptothecin pharmacokinetics 9-nitrocamptothecin pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	4	4q22	ABCG2	89230439	89371498		Zamboni, W. C.  et al. 2006	16505951				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Invest New Drugs    2006	Disposition of 9-nitrocamptothecin and its 9-aminocamptothecin metabolite in relation to ABC transporter genotypes		603756		CDC	2006	These findings suggest that inter-individual variability in 9AC disposition, but not 9NC, may be influenced, in part, by ABCG2 genotype. In contrast, there was no evidence for a relationship between ABCG2 and the disposition of 9NC, or for relationships between ABCB1 and ABCC2 genotypes and the disposition of 9NC or 9AC.											
143752	Y	cholesterol cholesterol, HDL cholesterol, LDL	METABOLIC	MET		2	2p21	ABCG5	43893114	43919508		Herron, K. L.  et al. 2006	16614398				ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022436.2			CDC GDP info	64240	Hs.132992			J Nutr    2006    136(5)    1161-5	The ABCG5 Polymorphism Contributes to Individual Responses to Dietary Cholesterol and Carotenoids in Eggs		605459		CDC	2006			carotenoids cholesterol									
143769		factor VIII activity	HEMATOLOGICAL	HEM	Thrombophilia	9	9q34.1-q34.2	ABO	135120383	135140451		Viel, K. R.  et al. 2007	17209060				ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020469.2			CDC GDP info	28	Hs.561993			Blood    2007	A sequence variation scan of the coagulation factor (F)VIII structural gene and associations with plasma FVIII activity (FVIII		110300		CDC	2007												
143780		scoliosis	OTHER	OTH	Scoliosis	15	15q26.1	ACAN	87147677	87219589		Marosy, B.  et al. 2006	16741449				aggrecan				CDC GDP info	176	Hs.654507			Spine    2006    31(13)    1420-1425	Lack of Association Between the Aggrecan Gene and Familial Idiopathic Scoliosis				CDC	2006	Despite the negative association reported here, further investigation of the gene and its potential association to FIS is required.											
143802		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Hypertension|Chronic Disease	17	17q23	ACE	58908165	58952935		Wang, L.  et al. 2006	16681991				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		Boston	CDC GDP info	1636	Hs.298469			Am J Obstet Gynecol    2006    195(1)    162-71	Prolylcarboxypeptidase gene, chronic hypertension, and risk of preeclampsia		106180		CDC	2006	Our data showed that prolylcarboxypeptidase D allele coupled with chronic hypertension was associated with a significantly increased risk of preeclampsia in both black and non-black women. Gene expression assays lent further support for the functional significance of prolylcarboxypeptidase in the etiology of preeclampsia.		blood pressure									
143808	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Yi, L.  et al. 2006	16866021				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			J Int Med Res    2006    34(3)    272-83	Association of ACE, ACE2 and UTS2 polymorphisms with essential hypertension in Han and Dongxiang populations from north-western China		106180		CDC	2006												
143817	N	angiotensinogen hypertension	CARDIOVASCULAR	CARD	Hypertension	17	17q23	ACE	58908165	58952935		Skov, K.  et al. 2006	17083073				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Caucasian	Denmark	CDC GDP info	1636	Hs.298469			J Renin Angiotensin Aldosterone Syst    2006    7(1)    47-55	Renal Haemodynamics are not Related to Genotypes in Offspring of Parents with Essential Hypertension		106180		CDC	2006	The markedly greater RVR, proportionally larger than the greater BP, supports a role for RVR in the pathogenesis of EH.											
143823	N	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	17	17q23	ACE	58908165	58952935		Shin, J.  et al. 2007	17223428				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		106180		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
143826	Y	muscle testing	NORMALVARIATION	NV		17	17q23	ACE	58908165	58952935			17300045				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Ross Fiziol Zh Im I M Sechenova    2006    92(7)    883-8	The association of gene polymorphisms with the muscle fiber type composition		106180		CDC	2006												
143838		myocardial infarct stroke	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	17	17q23	ACE	58908165	58952935		Marciante, K. D.  et al. 2007	17522061				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	European		CDC GDP info	1636	Hs.298469			Am J Epidemiol    2007	Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients		106180		CDC	2007												
143849			NORMALVARIATION	NV		7	7q22	ACHE	100325550	100332475		Yan, L.  et al. 2005	15783300				Acetylcholinesterase (YT blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000665.3		China	CDC GDP info	43	Hs.154495			Immunohematol    2005    21    10-4	ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.		100740		CDC	2005	In the Han population, the frequencies of A1, A2, B, and O1 alleles were 0.189, 0.003, 0.170, and 0.638, respectively, and the O2 allele was not identified. Among D+ Hans, the frequencies of C and c alleles were 0.67 and 0.33 and the frequencies of E and 											
143874		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q26.3	ADAM12	127693414	128067055		Harold, D.  et al. 2007	17440933				ADAM metallopeptidase domain 12 (meltrin alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003474			CDC GDP info	8038	Hs.655388			Am J Med Genet B Neuropsychiatr Genet    2007	Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease		602714		CDC	2007												
143898	N	angiotensinogen hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Skov, K.  et al. 2006	17083073				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian	Denmark	CDC GDP info	118	Hs.183706			J Renin Angiotensin Aldosterone Syst    2006    7(1)    47-55	Renal Haemodynamics are not Related to Genotypes in Offspring of Parents with Essential Hypertension		102680		CDC	2006	The markedly greater RVR, proportionally larger than the greater BP, supports a role for RVR in the pathogenesis of EH.											
143905		hematology indices	HEMATOLOGICAL	HEM	Hypertension|Genetic Predisposition to Disease	2	2p14-p13	ADD2	70742770	70848837		Richart, T.  et al. 2007	17301826				Adducin 2 (beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001617.2			CDC GDP info	119	Hs.188528			J Hum Hypertens    2007	Intra-erythrocyte cation concentrations in relation to the C1797T beta-adducin polymorphism in a general population		102681		CDC	2007												
143909	P		CANCER	CAN	Neoplasms	4	4q21-q23	ADH1B	100446551	100461581		Yoshimura, K.  et al. 2003	14634838				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		103720		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
143937	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4q21-q23	ADH1C	100476671	100492940		Beulens, J. W.  et al. 2007	17563066				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Diabetes    2007	Alcohol consumption and type 2 diabetes		103730		CDC	2007	ADH1C genotype modifies the association between alcohol consumption and diabetes.		alcohol									
143967		insulin triglycerides	METABOLIC	MET	Insulin Resistance	3	3q27	ADIPOQ	188043156	188058946		Richardson, D. K.  et al. 2006	16955209				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Mexican;Mexican American		CDC GDP info	9370	Hs.80485			Diabetologia    2006    49(10)    2317-28	Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans		605441		CDC	2006	 These results provide evidence for association of SNPs in ADIPOQ and its receptors with multiple IRS-related phenotypes. Specifically, several genetic variants in ADIPOR2 were strongly associated with decreased triglyceride levels.											
143980	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946		Yamaguchi, S.  et al. 2007	17334638				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2			CDC GDP info	9370	Hs.80485			Int J Mol Med    2007    19(4)    631-7	Gender differences in the association of gene polymorphisms with type 2 diabetes mellitus		605441		CDC	2007												
143983	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	1	1p36.13-q41	ADIPOR1	201176575	201194323		Vaxillaire, M.  et al. 2006	16505255				Adiponectin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015999.2	Caucasian;French		CDC GDP info	51094	Hs.5298			Diabetes    2006    55(3)    856-61	Genetic Analysis of ADIPOR1 and ADIPOR2 Candidate Polymorphisms for Type 2 Diabetes in the Caucasian Population		607945		CDC	2006	our data suggest a modest contribution of ADIPOR2 variants in diabetes risk in the French population.											
144000		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	20	20q13.13	ADNP	48940289	48980934		Kankova, K.  et al. 2007	17345061				Activity-dependent neuroprotector homeobox	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC075794			CDC GDP info	23394	Hs.570355			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach				CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
144008	N	benign prostatic hyperplasia	PHARMACOGENOMIC	PHARM	Prostatic Hyperplasia	8	8p21-p11.2	ADRA1A	26661583	26778839			16536786	The 1475C-->T SNP in the ADRA1A			Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			BJU Int    2006    97(4)    852-5	Polymorphisms in the alpha-adrenoceptor gene do not modify the short- and long-term efficacy of alpha-adrenoceptor antagonists in the treatment of benign prostatic hyperplasia		104219		CDC	2006	S The 1475C-->T SNP in the ADRA1A gene does not modify the short- and long-term efficacy of alpha(1)-adrenoceptor antagonists for treating BPH. There was a small effect on perceived quality of life but this was not reflected in other variables that measured the treatment response more directly.		alpha(1)-adrenoceptor antagonista									
144020		weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	10	10q24-q26	ADRA2A	112826910	112830560		Park, Y. M.  et al. 2006	16583406				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2	Korean		CDC GDP info	150	Hs.249159			Am J Med Genet B Neuropsychiatr Genet    2006	Weight gain associated with the alpha(2a)-adrenergic receptor -1291 C/G polymorphism and olanzapine treatment		104210		CDC	2006			olanzapine									
144022		left ventricular ejection fraction troponin, cardiac	CARDIOVASCULAR	CARD	Subarachnoid Hemorrhage|Myocardial Stunning|Ventricular Dysfunction, Left	10	10q24-q26	ADRA2A	112826910	112830560		Zaroff, J. G.  et al. 2006	16728691				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Stroke    2006	Adrenoceptor Polymorphisms and the Risk of Cardiac Injury and Dysfunction After Subarachnoid Hemorrhage		104210		CDC	2006	Genetic polymorphisms of the adrenoceptors are associated with an increased risk of cardiac abnormalities after SAH.											
144032		obesity	METABOLIC	MET	Insulin Resistance|Obesity	10	10q24-q26	ADRA2A	112826910	112830560		Lima, J. J.  et al. 2007	17512307				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Metabolism    2007    56(6)    757-65	Association analyses of adrenergic receptor polymorphisms with obesity and metabolic alterations		104210		CDC	2007	common SNPs in adrenergic receptor genes may be important susceptibility loci for obesity and related alterations.											
144042		muscle testing	AGING	AGE		2	2p13-q13	ADRA2B	96142349	96145615		Yao, L.  et al. 2007	17595424				Adrenergic, alpha-2B-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000682.4			CDC GDP info	151	Hs.247686			J Gerontol A Biol Sci Med Sci    2007    62(6)    658-63	Adrenergic receptor genotype influence on midthigh intermuscular fat response to strength training in middle-aged and older adults		104260		CDC	2007	ADR genotype influences IMF response to strength training.		strength training									
144047		aortic compliance blood pressure, arterial cardiac output heart rate hypertension left ventricular mass systemic vascular resistance	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	4	4p16	ADRA2C	3738093	3740051		Li, J. L.  et al. 2006	16636200				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			Hypertension    2006	Do Allelic Variants in {alpha}2A and {alpha}2C Adrenergic Receptors Predispose to Hypertension in Blacks?		104250		CDC	2006												
144065	Y	heart rate	CARDIOVASCULAR	CARD		10	10q24-q26	ADRB1	115793795	115796657		Niu, Y.  et al. 2007	17591269				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Sheng Wu Yi Xue Gong Cheng Xue Za Zhi    2007    24(2)    399-403	Association of beta-adrenoceptor gene polymorphism with resting heart rate		109630		CDC	2007												
144078	Y	heart rate	CARDIOVASCULAR	CARD	Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Wilk, J. B.  et al. 2006	16907703				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Ann Hum Genet    2006    70(5)    566-573	Adrenergic Receptor Polymorphisms Associated with Resting Heart Rate		109690		CDC	2006	each of the ADR gene polymorphisms was associated with heart rate in at least one stratum studied, but there was no consistent association from which one would infer a large genetic contribution to heart rate.											
144084	Y	epinephrine lung function norepinephrine	CARDIOVASCULAR	CARD	Lung Diseases|Cardiac Output, Low	5	5q31-q32	ADRB2	148186348	148188381		Snyder, E. M.  et al. 2006	17099033				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Chest    2006    130(5)    1527-34	{beta}2-Adrenergic Receptor Genotype and Pulmonary Function in Patients With Heart Failure		109690		CDC	2006	These data suggest that genetic variation of the ADRB2 is associated with$$$ differences in PF in CHF patients but not in healthy subjects, which may be related to an increased susceptibility of the homozygous Arg subjects to agonist-mediated desensitization of ADRB2s in the lungs, or related to an influence of this polymorphism on cardiac diastolic properties.											
144093	N	asthma	PHARMACOGENOMIC	PHARM	Asthma	5	5q31-q32	ADRB2	148186348	148188381		Klotsman, M.  et al. 2007	17460547				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		109690		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
144113		anorexia nervosa	PSYCH	PSY	Body Weight|Anorexia Nervosa	16	16q22	AGRP	66073974	66075217		Dardennes, R. M.  et al. 2006	17197106				Agouti related protein homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001138.1	French		CDC GDP info	181	Hs.104633			Psychoneuroendocrinology    2006	Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa		602311		CDC	2006												
144116	Y	cardiovascular disease	CARDIOVASCULAR	CARD	Cardiovascular Diseases	1	1q42-q43	AGT	228904891	228916564			16544732	AGT (235thr)			Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	French;Israeli		CDC GDP info	183	Hs.19383			Isr Med Assoc J    2006    8(2)    103-5	Candidate gene polymorphism in cardiovascular disease		106150		CDC	2006	Although a comparable healthy Israeli population study is needed for more precise interpretation of these results, frequency differences in these polymorphic alleles--associated with lipid metabolism, renin-angiotensin system and leukocyte adhesion mechanism--between CVD patients and healthy individuals nevertheless implicate these candidate genes as predisposing for CVD.											
144138		hypertension	CARDIOVASCULAR	CARD		1	1q42-q43	AGT	228904891	228916564		Freitas, S. R.  et al. 2007	17546276				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Brazilian		CDC GDP info	183	Hs.19383			Arq Bras Cardiol    2007    88(4)    447-51	Combined analysis of genetic and environmental factors on essential hypertension in a brazilian rural population in the Amazon region		106150		CDC	2007	These findings suggest that in the Santa Isabel do Rio Negro population, the residents that carry ACE-D allele or have an alcohol consumption habit present higher values of SBP and DBP, respectively, with the passing of years.											
144161	N	hepatitis B liver disease, chronic and cirrhosis	INFECTION	INF		3	3q21-q25	AGTR1	149898347	149943480		Li, H.  et al. 2007	17557241				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    298-301	The association of TGF beta1 and AT1R gene polymorphisms with hereditary susceptibility and clinical phenotype of HBV-induced liver cirrhosis.		106165		CDC	2007												
144167	N	heart anomalies, congenital	CARDIOVASCULAR	CARD	Turner Syndrome|Aortic Coarctation	X	Xq22-q23	AGTR2	115216030	115219848		Struwe, E.  et al. 2006	16944335			Intron	Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			Pediatr Cardiol    2006    27(5)    636-9	No evidence for angiotensin type 2 receptor gene polymorphism in intron 1 in patients with coarctation of the aorta and Ullrich-Turner syndrome		300034		CDC	2006												
144188		lung cancer	CANCER	CAN	Carcinoma, Squamous Cell|Lung Neoplasms	7	7p15	AHR	17304831	17352299		Kim, J. H.  et al. 2006	17174437				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Lung Cancer    2006	Aryl hydrocarbon receptor gene polymorphisms affect lung cancer risk		600253		CDC	2006			smoking (tobacco)									
144246		acetaldehyde ethanol	OTHER	OTH	Alcoholism	9	9p11.1	ALDH1B1	38382701	38388657		Yokoyama, A.  et al. 2007	17471563				Aldehyde dehydrogenase 1 family, member B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000692			CDC GDP info	219	Hs.436219			Int J Cancer    2007	Contribution of the alcohol dehydrogenase-1B genotype and oral microorganisms to high salivary acetaldehyde concentrations in Japanese alcoholic men		100670		CDC	2007	the high salivary acetaldehyde levels in the alcoholics were partly attributable to prolonged ethanol exposure because of the less-active ADH1B and increased salivary acetaldehyde production as a result of oral microorganism overgrowth, and may explain their high risk for UADTC. (c) 2007 Wiley-Liss, Inc.											
144249			NORMALVARIATION	NV		12	12q24.2	ALDH2	110688728	110732167		Hamajima, N.  et al. 2002	12164325				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		100650		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
144254	N	alcoholism	CHEMDEPENDENCY	CHEM	Alcoholism	12	12q24.2	ALDH2	110688728	110732167		Nishizawa, D.  et al. 2006	16679777				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2		Japan	CDC GDP info	217	Hs.632733			Neuropsychobiology    2006    53(3)    137-141	Association of mu-Opioid Receptor Gene Polymorphism A118G with Alcohol Dependence in a Japanese Population		100650		CDC	2006												
144257	Y	medicamentosa-like dermatitis, trichloroethylene	OTHER	OTH		12	12q24.2	ALDH2	110688728	110732167		Li, H. S.  et al. 2006	16758956				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDP info	217	Hs.632733			Wei Sheng Yan Jiu    2006    35(2)    149-51	Polymorphisms of aldehyde and alcohol dehydrogenase genes associated with susceptibility to trichloroethylene-induced medicamentosa-like dermatitis		100650		CDC	2006	The active ALDH2 might be one of the factors influencing the individual susceptibility to TCE-induced medicamentosa-like dermatitis.											
144278	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis	17	17p13.3	ALOX15	4480962	4491709		Wittwer, J.  et al. 2007	17439326			promoter	Arachidonate 15-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001140.3	Caucasian		CDC GDP info	246	Hs.73809			Clin Chem Lab Med    2007    45(4)    487-92	The c.-292C>T promoter polymorphism increases reticulocyte-type 15-lipoxygenase-1 activity and could be atheroprotective		152392		CDC	2007	These results suggest that increased ALOX15 activity may attenuate inflammation, which could be caused by an increase in 15(S)-HETE and eventually by its metabolites, the lipoxins.											
144292	N	chondrocalcinosis	METABOLIC	MET	Chondrocalcinosis|Genetic Predisposition to Disease	1	1p36.1-p34	ALPL	21708444	21777492		Zhang, Y.  et al. 2006	17043047				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2	Caucasian		CDC GDP info	249	Hs.75431			Rheumatology (Oxford)    2006	Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis		171760		CDC	2006	Polymorphisms of ENPP1 and TNAP are not major determinants of susceptibility to CC in the population studied.											
144308	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Disease Susceptibility	14	14q11.1-q11.2	ANG	20222211	20232185		Corrado, L.  et al. 2007	17462671				angiogenin, ribonuclease, RNase A family, 5		Irish;Italian;Scottish		CDC GDP info	283	Hs.695245			J Neurol Sci    2007	Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population		105850		CDC	2007	we did not detect the association with rs11701-G or with any other newly detected variation in the ANG regulatory region. Furthermore we did not identify potentially causal mutations in the coding region.											
144318		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		15	15q25-q26	ANPEP	88129129	88159072		Comings, D. E.  et al. 2000	11140838				Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001150.1			CDC GDP info	290	Hs.1239			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		151530		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144340		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Jiao, L.  et al. 2006	16844323				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Cancer Detect Prev    2006	Selected polymorphisms of DNA repair genes and risk of pancreatic cancer		107748		CDC	2006	This study suggests that polymorphisms of genes involved in the repair of alkylating DNA adduct and DNA base damage may play a role in modulating the risk of pancreatic cancer.		smoking (tobacco)									
144344	Y	lung cancer	CANCER	CAN	Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Kiyohara, C.  et al. 2006	16982113				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Caucasian		CDC GDP info	328	Hs.73722			Lung Cancer    2006	Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk		107748		CDC	2006												
144372		osteonecrosis	METABOLIC	MET	Femur Head Necrosis|Postoperative Complications	11	11q23-q24	APOA1	116211678	116213548		Hirata, T.  et al. 2007	17530370				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			J Orthop Sci    2007    12(3)    199-206	ApoB C7623T polymorphism predicts risk for steroid-induced osteonecrosis of the femoral head after renal transplantation		107680		CDC	2007	For the prediction of ONFH, it is useful to analyze ApoB C7623T and plasma ApoB/ApoA1 ratio before the administration of steroids.											
144379	Y	cholesterol	METABOLIC	MET		11	11q23	APOA4	116196627	116199221		Hubacek, J. A.  et al. 2007	17378725				Apolipoprotein A-IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000482.3			CDC GDP info	337	Hs.591940			Clin Chem Lab Med    2007    45(3)    316-20	Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change		107690		CDC	2007	APOA4 and APOA5 variants may play an important role in the individual sensitivity of lipid parameters to dietary composition in men.		diet									
144391	Y	cholesterol cholesterol, LDL triglycerides	METABOLIC	MET	HIV Infections|Hyperlipidemias|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Guardiola, M.  et al. 2006	16887900				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Clin Chem    2006	Protease Inhibitor-Associated Dyslipidemia in HIV-Infected Patients Is Strongly Influenced by the APOA5-1131T->C Gene Variation		606368		CDC	2006	Variability in the APOA5 gene predisposes patients with HIV, particularly those treated with PI, to severe hyperlipidemia.		phosphatidylinositol									
144398	Y	cardiovascular disease cholesterol cholesterol, HDL cholesterol, VLDL hyperlipidemia intimia-media thickness lipoprotein triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Hyperlipidemia, Familial Combined|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		van der Vleuten, G. M.  et al. 2006	17157483				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Biochim Biophys Acta    2006	Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia		606368		CDC	2006	In Dutch FCH families, variants in the APOA5 gene are associated with FCH and an atherogenic lipid profile.											
144402	Y	cholesterol lipoprotein retinyl palmitate triglycerides	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794		Moreno, R.  et al. 2007	17356049	APOA5*2 and APOA5*3			Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3	Caucasian		CDC GDP info	116519	Hs.283923			J Clin Endocrinol Metab    2007	Two independent apolipoprotein A5 haplotypes modulate postprandial lipoprotein metabolism in a healthy Caucasian population		606368		CDC	2007	Our findings show that the presence of the APOA5*2 and APOA5*3 haplotypes in the APOA5 gene is associated with a higher postprandial response that could be involved in the higher risk of coronary heart disease associated with the 56G and -1131C alleles.		fat vitamin A									
144406		diabetes, type 2 diabetic nephropathy triglycerides	METABOLIC	MET	Diabetic Nephropathies	11	11q23	APOA5	116165295	116167794		Baum, L.  et al. 2007	17493548				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			J Diabetes Complications    2007    21(3)    158-63	A case-control study of apoA5 -1131T-->C polymorphism that examines the role of triglyceride levels in diabetic nephropathy		606368		CDC	2007												
144460	Y	metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Miller, M.  et al. 2007	17416293	APOC3 promoter  polymorphisms C-482T and T-455C		promoter	apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Arch Med Res    2007    38(4)    444-51	APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome		107720		CDC	2007	These data, therefore, suggest that the APOC3 promoter polymorphisms C-482T and T-455C are associated with the MetS.											
144478	N	cholesterol cholesterol, HDL cholesterol, LDL fatty acid glucose insulin lipoprotein triacylglycerols	CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490			16522905				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Am J Clin Nutr    2006    83(3)    592-600	Soy-isoflavone-enriched foods and markers of lipid and glucose metabolism in postmenopausal women		107741		CDC	2006	Isoflavone supplementation, when provided in the form and dose used in this study, had no effect on lipid or other metabolic biomarkers of cardiovascular disease risk in postmenopausal women but may increase HDL cholesterol in an estrogen receptor beta gene-polymorphic subgroup.		isoflavone									
144493	Y	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		19	19q13.2	APOE	50100878	50104490		Bauerfeind, A.  et al. 2006	16770077				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian;German		CDC GDP info	348	Hs.515465			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		107741		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
144524		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bernard, N.  et al. 2007	17318300				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		107741		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
144537		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Bosco, P.  et al. 2007	17498878				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurosci Lett    2007	The CDC2 I-G-T haplotype associated with the APOE varepsilon4 allele increases the risk of sporadic Alzheimer's disease in Sicily		107741		CDC	2007												
144549	P		NORMALVARIATION	NV		6	6p21.33	APOM	31728199	31733966		Han, X.  et al. 2007	17557255				Apolipoprotein M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019101.2			CDC GDP info	55937	Hs.534468			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    350-3	Distribution characters and linkage disequilibrium analysis of APOM gene polymorphisms in Han population of North China.		606907		CDC	2007	There is apparent linkage disequilibrium among SNPs of APOM gene in Han population of North China.											
144575		prostate cancer	CANCER	CAN	Prostatic Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Cunningham, J. M.  et al. 2007	17507624				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2			CDC GDP info	367	Hs.496240			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		313700		CDC	2007												
144612		brain size	NEUROLOGICAL	NEUR	Microcephaly	1	1q31	ASPM	195319996	195382287		Dobson-Stone, C.  et al. 2007	17566767				Asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018136			CDC GDP info	259266	Hs.121028			Neuroimage    2007	Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort		605481		CDC	2007												
144628		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	2	2q37.1	ATG16L1	233824955	233869059		Yamazaki, K.  et al. 2007	17534574				ATG16 autophagy related 16-like 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030803	Japanese;Caucasian		CDC GDP info	55054	Hs.529322			J Hum Genet    2007	Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients		610767		CDC	2007												
144633	Y	methotrexate toxicity	PHARMACOGENOMIC	PHARM	Psoriasis	2	2q35	ATIC	215885080	215922724		Campalani, E.  et al. 2007	17410198				5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004044.4			CDC GDP info	471	Hs.90280			J Invest Dermatol    2007	Polymorphisms in Folate, Pyrimidine, and Purine Metabolism Are Associated with Efficacy and Toxicity of Methotrexate in Psoriasis		601731		CDC	2007												
144655	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease|Genetic Predisposition to Disease	1	1p36	ATP13A2	17185039	17210854		Di Fonzo, A.  et al. 2007	17485642				ATPase type 13A2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY461712	Italian	Brazil|Italy	CDC GDP info	23400	Hs.128866			Neurology    2007    68(19)    1557-62	ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease		610513		CDC	2007	We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.											
144667		Wilson disease	METABOLIC	MET	Hepatolenticular Degeneration	13	13q14.3	ATP7B	51404805	51483631		Folhoffer, A.  et al. 2007	17272994				ATPase, Cu++ transporting, beta polypeptide (Wilson disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000053.2			CDC GDP info	540	Hs.492280			Eur J Gastroenterol Hepatol    2007    19(2)    105-111	Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease		606882		CDC	2007	Eight novel mutations in addition to the 15 that are already known were found in Hungarian patients with Wilson\s disease. Our results underline the importance and usefulness of genetic testing for patients presenting with liver disease and for family screening.											
144692		infertility, male	REPRODUCTION	REP		Y	Yq11.2	AZF1				Zhang, F.  et al. 2007	17412880				ubiquitin specific peptidase 9, Y-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_004654			CDC GDP info	8287	Hs.655309			J Med Genet    2007	Partial deletions are associated with an increased risk of complete deletion in AZFc				CDC	2007	To date, these observations comprise the first evidence showing that partial AZFc deletions can increase the risk of complete AZFc deletion.											
144705	Y	metabolic syndrome obesity	METABOLIC	MET	Bardet-Biedl Syndrome|Obesity	16	16q21	BBS2	55075798	55111696		Benzinou, M.  et al. 2006	17003356				Bardet-Biedl syndrome 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB208905	Caucasian;French		CDC GDP info	583	Hs.333738			Diabetes    2006    55(10)    2876-82	Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians		606151		CDC	2006	our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.											
144728		blood pressure, arterial	CARDIOVASCULAR	CARD		14	14q32.1-q32.2	BDKRB2	95740949	95780538		Pretorius, M. M.  et al. 2007	17522594				Bradykinin receptor B2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000623.2			CDC GDP info	624	Hs.525572			Clin Pharmacol Ther    2007	The Bradykinin Type 2 Receptor BE1 Polymorphism and Ethnicity Influence Systolic Blood Pressure and Vascular Resistance		113503		CDC	2007												
144743		mood pain	PSYCH	PSY	Intervertebral Disk Displacement|Pain|Sciatica|Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder	11	11p13	BDNF	27633017	27699872		Max, M. B.  et al. 2006	16623937				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Mol Pain    2006    2    14	A clinical genetic method to identify mechanisms by which pain causes depression and anxiety		113505		CDC	2006	Genomic analysis of longitudinal studies of pain, depression, and anxiety in patients undergoing pain-relieving surgery may help to identify molecules through which pain alters mood. Detection of alleles with modest-sized effects will require larger cohorts.		pain									
144793		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Chen, C. M.  et al. 2007	17427185				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2007	Nuclear receptor NR4A2 IVS6 +18insG and brain derived neurotrophic factor (BDNF) V66M polymorphisms and risk of Taiwanese parkinson's disease		113505		CDC	2007												
144817	N	bone density	METABOLIC	MET		20	20p12	BMP2	6696744	6708910		Ichikawa, S.  et al. 2006	16432645				Bone morphogenetic protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001200.2	Danish;Icelandic		CDC GDP info	650	Hs.73853			Osteoporos Int    2006        1-6	Polymorphisms in the bone morphogenetic protein 2 (BMP2) gene do not affect bone mineral density in white men or women		112261		CDC	2006	These results demonstrate that genetic variations in BMP2 do not substantially contribute to BMD variation in our population of healthy American whites.											
144832		breast cancer colorectal cancer stomach cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Stomach Neoplasms	7	7q34	BRAF	140080751	140271033		Lee, J. W.  et al. 2006	16397024				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Clin Cancer Res    2006    12(1)    57-61	Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas		164757		CDC	2006	This study showed that in addition to lung adenocarcinomas, ERBB2 kinase domain mutation occurs in other common human cancers such as gastric, breast, and colorectal cancers, and suggested that alterations of ERBB2-mediated signaling pathway by ERBB2 mutations alone or together with K-RAS mutations may contribute to the development of human cancers.											
144852	Y	melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms	7	7q34	BRAF	140080751	140271033		Thomas, N. E.  et al. 2007	17507627				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Cancer Epidemiol Biomarkers Prev    2007    16(5) 	Number of Nevi and Early-Life Ambient UV Exposure Are Associated with BRAF-Mutant Melanoma		164757		CDC	2007	Increased number of nevi and early life ambient UV exposure were associated with an increased odds of having a BRAF-mutant melanoma versus a melanoma with neither BRAF nor NRAS mutations.		radiation, ultraviolet									
144931	Y	asthma IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	C5orf20	134807802	134810937		Kim, Y.  et al. 2007	17460725			promoter	Chromosome 5 open reading frame 20	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_130848			CDC GDP info	140947	Hs.152477			Genes Immun    2007	A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics		609710		CDC	2007												
144934	P		NORMALVARIATION	NV		1	1p32	C8A	57093066	57156482		Yang, Z. H.  et al. 2006	16761437				Complement component 8, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000562			CDC GDP info	731	Hs.93210			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(3)    471-3	Detecting the DNA polymorphism of human complement component C8A by PCR-SSCP analysis		120950		CDC	2006	The method of PCR-SSCP is reliable, rapid, simple and cost-effective in detecting the DNA polymorphism of C8A, and it is valuable for further application in population genetic study and forensic science practice.											
145006		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183			16424062				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		115500		CDC	2006												
145064		asthma Chlamydophila pneumoniae infection	INFECTION	INF	Chlamydophila Infections|Asthma|Disease Susceptibility	17	17q11.2-q21.1	CCL2	29606408	29608333		Tolgyesi, G.  et al. 2006	16988194			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			Pediatr Res    2006	Involvement of TNF{alpha} -308A Promoter Polymorphism in the Development of Asthma in Children Infected with Chlamydophila pneumoniae		158105		CDC	2006			C. pneumoniae									
145068	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B|Carcinoma, Hepatocellular	17	17q11.2-q21.1	CCL2	29606408	29608333		Park, B. L.  et al. 2006	17202846			promoter	Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		CDC GDP info	6347	Hs.303649			Exp Mol Med    2006    38(6)    694-702	Association of common promoter polymorphisms of MCP1 with hepatitis B virus clearance		158105		CDC	2006												
145073	N	cirrhosis hepatitis B, chronic	INFECTION	INF	Hepatitis B|Disease Progression	17	17q11.2-q21.1	CCL2	29606408	29608333		Cheong, J. Y.  et al. 2007	17596666				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3	Korean		CDC GDP info	6347	Hs.303649			J Korean Med Sci    2007    22(3)    529-35	RANTES, MCP-1, CCR2, CCR5, CXCR1 and CXCR4 Gene Polymorphisms are not Associated with the Outcome of Hepatitis B Virus Infection		158105		CDC	2007												
145099		uveitis	VISION	VIS	Ocular Hypertension|Uveitis, Posterior|Immune System Diseases|Genetic Predisposition to Disease	17	17q11.2-q12	CCL5	31222608	31231490		Ahad, M. A.  et al. 2007	17417600				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2	Caucasian		CDC GDP info	6352	Hs.514821			Mol Vis    2007    13    388-96	Polymorphisms of chemokine and chemokine receptor genes in idiopathic immune-mediated posterior segment uveitis		187011		CDC	2007	Though the utility for prediction of disease susceptibility of the studied polymorphisms in chemokine genes is in general not robust, we have found that polymorphisms in chemokine genes can influence the outcome of patients with idiopathic immune-mediated posterior segment uveitis. These associations require further analysis in other groups of patients.											
145132	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	5	5q13.3-q14	CCNH	86723066	86744592		Huang, W. Y.  et al. 2006	16492920				Cyclin H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001239.2			CDC GDP info	902	Hs.292524			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		601953		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
145137	P		NORMALVARIATION	NV		3	3p21	CCR2	46370363	46377429			16426243				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Chinese;European	China	CDC GDP info	1231	Hs.644637			Int J Immunogenet    2006    33(1)    45-8	CCR2 allele polymorphisms in 15 Chinese ethnic populations		601267		CDC	2006												
145158	N	diabetic nephropathy	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p21	CCR2	46370363	46377429		Prasad, P.  et al. 2007	17428349				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3	Japanese;Indian;Asian		CDC GDP info	1231	Hs.644637			BMC Med Genet    2007    8(1)    20	Association of TGFB1, TNFa, CCR2 and CCR5 gene polymorphisms in chronic renal insufficiency among Asian Indians with type-2 diabetes		601267		CDC	2007	Of the various cytokine gene polymorphisms tested, allele 59029A of CCR5 gene is significantly associated with diabetic renal insufficiency among Asian Indians.											
145227	Y	IgE	IMMUNE	IMM		5	5q22-q32	CD14	139991500	139993439		Williams, L. K.  et al. 2006	17030237	CD14 C-260T			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Allergy Clin Immunol    2006    118(4)    851-7	Gene-environment interactions with CD14 C-260T and their relationship to total serum IgE levels in adults		158120		CDC	2006	The CD14 C-260T genotype and endotoxin exposure together appear to influence total serum IgE levels in adults. The absence of a similar gene-environment interaction for pet exposure suggests separate mechanisms of action. CLINICAL IMPLICATIONA common polymorphism in the endotoxin receptor, CD14 C-260T, and dust endotoxin levels in the home might interact to influence total serum IgE levels into adulthood.		dust endotoxin pets									
145235	N	amyloidosis Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis	5	5q22-q32	CD14	139991500	139993439		Keskin, O.  et al. 2006	17187267				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Rheumatol Int    2006	Is the CD14 C159T polymorphism effective in the development of secondary amyloidosis in Familial Mediterranean fever?		158120		CDC	2006												
145244	Y	stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Zhao, D.  et al. 2007	17438094			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Clin Cancer Res    2007    13(8)    2362-2368	Role of CD14 Promoter Polymorphisms in Helicobacter pylori Infection-Related Gastric Carcinoma		158120		CDC	2007	Functional polymorphism in CD14 is associated with greater risk of H.		Helicobacter pylori									
145258	N	tuberculosis	INFECTION	INF	Tuberculosis|Tuberculosis, Pulmonary|Hypersensitivity, Delayed	19	19p13	CD209	7710881	7718406		Gomez, L. M.  et al. 2006	17055357				CD209 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021155.2			CDC GDP info	30835	Hs.278694			Hum Immunol    2006    67(10)    808-11	Analysis of DC-SIGN (CD209) functional variants in patients with tuberculosis		604672		CDC	2006	the studied polymorphisms are not relevant risk factors for developing tuberculosis in Northwestern Colombian individuals.											
145270	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	2	2q33	CD28	204279442	204310801		Wiencke, K.  et al. 2006	16638702				CD28 antigen (Tp44)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006139.1			CDC GDP info	940	Hs.591629			Scand J Gastroenterol    2006    41(5)    586-91	No major effect of the CD28/CTLA4/ICOS gene region on susceptibility to primary sclerosing cholangitis		186760		CDC	2006	There are no major effects of the CD28/CTLA4/ICOS gene region on susceptibility to PSC, but minor contributions (OR <1.8) cannot be excluded.											
145286	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetic Angiopathies|Disease Progression	X	Xq26	CD40LG	135558001	135570215		Burdon, K. P.  et al. 2006	16504636				CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000074.2			CDC GDP info	959	Hs.592244			Am Heart J    2006    151(3)    706-11	Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)		308230		CDC	2006	Genetic variation in the CD40 gene is associated with CAC in diabetic families.											
145291	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q21.3-q22	CD48	158915159	158948209		Ramos-Lopez, E.  et al. 2006	16866884			Intron	CD48 molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC030224	German		CDC GDP info	962	Hs.243564			Tissue Antigens    2006    68(2)    147-52	Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes		109530		CDC	2006	we cannot confirm a role of HERV-K18 polymorphisms -HERV-8914 and HERV-8594- or of the CD48 CA repeat for type 1 diabetes susceptibility.											
145335	Y	breast cancer	CANCER	CAN	Breast Neoplasms	12	12p13.1-p12	CDKN1B	12761575	12766570		Ma, H.  et al. 2006	16804901				Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2		China	CDC GDP info	1027	Hs.238990			Int J Cancer    2006	Variant genotypes of CDKN1A and CDKN1B are associated with an increased risk of breast cancer in Chinese women		600778		CDC	2006												
145350	Y	physical function	AGING	AGE		9	9p21	CDKN2A	21957750	21965038		Melzer, D.  et al. 2007	17459456				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Mech Ageing Dev    2007	A common variant of the p16(INK4a) genetic region is associated with physical function in older people		600160		CDC	2007												
145386	N	gallstones	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Dixit, M.  et al. 2006	16837242				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDP info	1071	Hs.89538			Hepatol Res    2006	Association of lipoprotein receptor, receptor-associated protein, and metabolizing enzyme gene polymorphisms with gallstone disease		118470		CDC	2006	LRPAP1, II genotype carrier females may have increased risk for gallstone disease.											
145396	Y	heart anomalies, congenital	CARDIOVASCULAR	CARD	Heart Defects, Congenital|Heart Septal Defects	2	2q21.1	CFC1	130995136	131002053		Ozcelik, C.  et al. 2006	17072672				Cripto, FRL-1, cryptic family 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032545.2			CDC GDP info	55997	Hs.503733			Pediatr Cardiol    2006    27(6)    695-8	Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease		605194		CDC	2006	CFC1 variants could be a rare cause of congenital heart disease in patients without laterality defects.											
145423	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Tedeschi-Blok, N.  et al. 2007	17198853	Tyr402His			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	non-Hispanic		CDC GDP info	3075	Hs.363396			Ophthalmology    2007    114(1)    99-103	Population-Based Study of Early Age-Related Macular Degeneration Role of the Complement Factor H Y402H Polymorphism in Bilateral but Not Unilateral Disease		134370		CDC	2007	Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD.											
145444		macular degeneration	VISION	VIS	Macular Degeneration	1	1q31-q32.1	CFHR2	195179556	195194979		Hageman, G. S.  et al. 2006	17438673				Complement factor H-related 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG567998			CDC GDP info	3080	Hs.632450			Ann Med    2006    38(8)    592-604	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration				CDC	2006	The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with a											
145478	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Kilpivaara, O.  et al. 2006	16816021				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Finnish		CDC GDP info	11200	Hs.291363			J Med Genet    2006    43(7)    e34	CHEK2 I157T associates with familial and sporadic colorectal cancer		604373		CDC	2006	CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients.		family history									
145484	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11	CHEK2	27413730	27467822		Cybulski, C.  et al. 2006	17085682				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish		CDC GDP info	11200	Hs.291363			J Med Genet    2006    43(11)    863-6	A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer		604373		CDC	2006	A large deletion of exons 9 and 10 of CHEK2 confers an increased risk of prostate cancer in Polish men.											
145490	N	breast cancer	CANCER	CAN		22	22q11	CHEK2	27413730	27467822		Jakubowska, A.  et al. 2007	17333333				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Polish		CDC GDP info	11200	Hs.291363			Breast Cancer Res Treat    2007	BARD1 and breast cancer in Poland		604373		CDC	2007	There was no clear association between the presence of the BARD1 Cys557Ser allele and breast cancer in Poland.		family history									
145502			INFECTION	INF	Malaria	1	1q31-q32	CHIT1	201448581	201508560		Piras, I.  et al. 2006	17106626				Chitinase 1 (chitotriosidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003465.1	European	Mediterranean Region	CDC GDP info	1118	Hs.201688			J Hum Genet    2006	Human CHIT1 gene distribution		600031		CDC	2006												
145571		metabolic syndrome myocardial infarct	METABOLIC	MET		16	16p13	CIITA	10878557	10926341		Lindholm, E.  et al. 2006	17183695				class II, major histocompatibility complex, transactivator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000246.2			CDC GDP info	4261	Hs.126714			PLoS ONE    2006    1    e64	Polymorphism in the MHC2TA Gene Is Associated with Features of the Metabolic Syndrome and Cardiovascular Mortality		600005		CDC	2006	A polymorphism in MHC2TA was associated with cardiovascular mortality and predictors of cardiovascular mortality, microalbuminuria and MetS.											
145584		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	19	19p13	CLEC4M	7734080	7740491		Wichukchinda, N.  et al. 2007	17530994				C-type lectin domain family 4, member M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014257.3		Thailand	CDC GDP info	10332	Hs.421437			AIDS Res Hum Retroviruses    2007    23(5)    686-692	The Polymorphisms in DC-SIGNR Affect Susceptibility to HIV Type 1 Infection		605872		CDC	2007												
145640	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	7	7q22.1	COL1A2	93861808	93898480		Yamada, Y.  et al. 2007	17334644				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3		Japan	CDC GDP info	1278	Hs.489142			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		120160		CDC	2007												
145659		anorexia nervosa	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	22	22q11.21-q11.23	COMT	18309308	18336530		Michaelovsky, E.  et al. 2005	16118784				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Israeli;Jewish		CDC GDP info	1312	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2005    139(1)    45-50	Haplotype analysis of the COMT-ARVCF gene region in Israeli anorexia nervosa family trios		116790		CDC	2005												
145739	Y	hepatitis C, chronic	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis|Disease Progression|Genetic Predisposition to Disease	11	11q13.1-q13.2	CPT1A	68278663	68365881		Huang, H.  et al. 2006	16697732		decreased risk.		Carnitine palmitoyltransferase 1A (liver)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001876.2			CDC GDP info	1374	Hs.503043	decreased risk.		Gastroenterology    2006    130(6)    1679-87	Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C		600528		CDC	2006	Subjects with CHC carrying DDX5 minor allele or DDX5-POLG2 haplotypes are at an increased risk of developing advanced fibrosis, whereas those carrying the CPT1A minor allele are at a decreased risk.											
145748	N	depression	PHARMACOGENOMIC	PHARM		2	2q34	CREB1	208102930	208171815		Wilkie, M. J.  et al. 2007	17460549			splice	CAMP responsive element binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004379.2			CDC GDP info	1385	Hs.584750			Pharmacogenet Genomics    2007    17(3)    207-215	A splice site polymorphism in the G-protein beta subunit influences antidepressant efficacy in depression		123810		CDC	2007	These results suggest that inheritance of the GNB3C825T allele may significantly influence antidepressant response and emphasises the potential importance of polymorphisms in genes in signalling cascades activated by commonly prescribed antidepressants.		antidepressants									
145796	Y	C-reactive protein	IMMUNE	IMM		1	1q21-q23	CRP	157948702	157951003		Sheu, W. H.  et al. 2007	17511977				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Clin Chim Acta    2007	C-reactive protein gene polymorphism 1009A>G is associated with serum CRP levels in Chinese men		123260		CDC	2007	The CRP 1009A>G genotypes and associated haplotypes were associated with lower fasting serum hs-CRP concentrations in a group of elderly Chinese men.											
145836	N	cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Wiencke, K.  et al. 2006	16638702				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Scand J Gastroenterol    2006    41(5)    586-91	No major effect of the CD28/CTLA4/ICOS gene region on susceptibility to primary sclerosing cholangitis		123890		CDC	2006	There are no major effects of the CD28/CTLA4/ICOS gene region on susceptibility to PSC, but minor contributions (OR <1.8) cannot be excluded.											
145861		Graves' disease Graves' ophthalmopathy	IMMUNE	IMM	Graves Disease|Graves Ophthalmopathy|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Zhang, Q.  et al. 2006	17048303			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Zhejiang Univ Sci B    2006    7(11)    887-91	Association of Graves' disease and Graves' ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene		123890		CDC	2006	Our results suggest that an allele of T at position -318 of promoter is associated with genetic susceptibility to Graves\ ophthalmopathy while an allele of G at position 49 of exon 1 is associated with genetic susceptibility to Graves\ disease instead. Smoking is believed to be a major risk factor for ophthalmopathy.		smoking (tobacco)									
145880		multiple myeloma	CANCER	CAN	Multiple Sclerosis|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Bagos, P. G.  et al. 2007	17439880				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Mult Scler    2007    13(2)    156-68	No evidence for association of CTLA-4 gene polymorphisms with the risk of developing multiple sclerosis		123890		CDC	2007	measures (gender, disease course, latitude).											
145892	N	brain cancer	CANCER	CAN	Ependymoma	3	3p21	CTNNB1	41216015	41256938		Onilude, O. E.  et al. 2006	16843107				Catenin (cadherin-associated protein), beta 1, 88kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001904.2			CDC GDP info	1499	Hs.476018			Cancer Genet Cytogenet    2006    168(2)    158-61	APC and CTNNB1 mutations are rare in sporadic ependymomas		116806		CDC	2006	although inherited APC mutations may be associated with ependymoma development in certain TS2 cases, these data indicate that somatic mutations affecting APC and CTNNB1 do not play a major role in the pathogenesis of sporadic ependymomas.											
145955	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	16	16q24	CYBA	87237197	87244958		Moreno, M. U.  et al. 2007	17620958				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			J Hypertens    2007    25(8)    1620-1626	A novel CYBA variant, the -675A/T polymorphism, is associated with essential hypertension		608508		CDC	2007	The -675 CYBA polymorphism may be a novel genetic marker associated with essential hypertension. Furthermore, TT subjects exhibit features of NADPH oxidase-mediated oxidative stress and asymptomatic atherosclerosis.											
145965	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Hyperaldosteronism	8	8q21	CYP11B1	143950774	143958238		Barr, M.  et al. 2006	17121536				Cytochrome P450, family 11, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000497.3			CDC GDP info	1584	Hs.184927			Clin Endocrinol (Oxf)    2006    65(6)    816-25	Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene		202010		CDC	2006	No variants were identified in the coding region of CYP11B1 that could account for hypertension and/or a raised ARR. However, this in vitro study identifies the importance of these affected residues to enzyme function and will inform subsequent studies of structure-function relationships.											
145980	Y	heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low	8	8q21-q22	CYP11B2	143988976	143996261		McNamara, D. M.  et al. 2006	16979018	-344C allele		promoter	Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			J Am Coll Cardiol    2006    48(6)    1277-82	Aldosterone synthase promoter polymorphism predicts outcome in African Americans with heart failure		124080		CDC	2006	The aldosterone synthase promoter -344C allele linked to higher aldosterone levels is associated with poorer event-free survival in blacks with HF. The role of aldosterone receptor antagonists in diminishing this apparent genetic risk remains to be explored.											
145983		11beta-hydroxylase efficiency	NORMALVARIATION	NV		8	8q21-q22	CYP11B2	143988976	143996261		Barr, M.  et al. 2006	17075029				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2			CDC GDP info	1585	Hs.632054			Hypertension    2006	Polymorphic Variation in the 11{beta}-Hydroxylase Gene Associates With Reduced 11-Hydroxylase Efficiency		124080		CDC	2006												
146027		bone density	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Zarrabeitia, M. T.  et al. 2007	17218734				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Eur J Endocrinol    2007    156(1)    117-22	Adiposity, estradiol, and genetic variants of steroid-metabolizing enzymes as determinants of bone mineral density		202110		CDC	2007	In conclusion, the results of this study point toward body weight and estradiol levels as major factors determining BMD both in women and in men.											
146044	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086			16424004				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2			CDC GDP info	1588	Hs.511367			Cancer Res    2006    66(2)    743-7	Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors		107910		CDC	2006	our results suggest that several SNPs along the androgen pathway, especially in CYP19A1 and CYP17A1, may influence prostate cancer development and progression.											
146060		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q21.1	CYP19A1	49288961	49418086		Low, Y. L.  et al. 2006	17176215				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	European	United States	CDC GDP info	1588	Hs.511367			Nutr Cancer    2006    56(1)    31-9	Phytoestrogen exposure, polymorphisms in COMT, CYP19, ESR1, and SHBG genes, and their associations with prostate cancer risk		107910		CDC	2006	were compared with those from 178 healthy men matched by age and date of recruitment.											
146078		malignant mesothelioma	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Neri, M.  et al. 2006	16697254				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Finnish;Italian		CDC GDP info	1543	Hs.72912			Int J Hyg Environ Health    2006    209(4)    393-8	Metabolic genotypes as modulators of asbestos-related pleural malignant mesothelioma risk		108330		CDC	2006												
146093		phenanthrene metabolite ratios, urinary	METABOLIC	MET	Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Hecht, S. S.  et al. 2006	17035385				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2006    15(10)    1805-11	Comparison of polymorphisms in genes involved in polycyclic aromatic hydrocarbon metabolism with urinary phenanthrene metabolite ratios in smokers		108330		CDC	2006												
146098			NORMALVARIATION	NV		15	15q22-q24	CYP1A1	72798942	72804930		Lu, Y.  et al. 2006	17113562				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Chinese;Caucasian;Indian;Singapore		CDC GDP info	1543	Hs.72912			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		108330		CDC	2006												
146104		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Cote, M. L.  et al. 2006	17174438				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	African American;Caucasian		CDC GDP info	1543	Hs.72912			Lung Cancer    2006	Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans		108330		CDC	2006			family history smoking (tobacco)									
146137	N	hepatic CYP1A2	NORMALVARIATION	NV		15	15q24	CYP1A2	72828236	72835994		Jiang, Z.  et al. 2006	16609368				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Caucasian		CDC GDP info	1544	Hs.1361			Pharmacogenet Genomics    2006    16(5)    359-367	Search for an association between the human CYP1A2 genotype and CYP1A2 metabolic phenotype		124060		CDC	2006	no SNP or haplotype in the CYP1A2 gene has yet been identified that can unequivocally be used to predict the metabolic phenotype in any individual patient.											
146144		schizophrenia tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Chronic Disease|Genetic Predisposition to Disease|Schizophrenia	15	15q24	CYP1A2	72828236	72835994		Tiwari, A. K.  et al. 2006	16969362				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Pharmacogenomics J    2006	Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects		124060		CDC	2006												
146149	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	15	15q24	CYP1A2	72828236	72835994		Yeh, C. C.  et al. 2006	17191090				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		124060		CDC	2006												
146186		lymphoma, Non-Hodgkin's	CANCER	CAN	Lymphoma, Non-Hodgkin	2	2p21	CYP1B1	38148249	38156796		De Roos, A. J.  et al. 2006	16985026				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	non-Hispanic		CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1647-53	Metabolic Gene Variants and Risk of Non-Hodgkin's Lymphoma		601771		CDC	2006												
146218		21-hydroxylase deficiency	METABOLIC	MET	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Loidi, L.  et al. 2006	16487445				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	Spanish;European		CDC GDP info	1589	Hs.278430			Clin Endocrinol (Oxf)    2006    64(3)    330-6	High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect		201910		CDC	2006	A great diversity of haplotypes with a large spectrum of mutated alleles was found.											
146248	P		NORMALVARIATION	NV		19	19q13.2	CYP2A6	46041283	46048180		Fukami, T.  et al. 2007	17267622				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4	JapaneseAfrican American;European;Korean		CDC GDP info	1548	Hs.439056			Drug Metab Dispos    2007	A novel duplication type of CYP2A6 gene in African-American population		122720		CDC	2007												
146257	P		NORMALVARIATION	NV		19	19q13.2	CYP2B6	46189043	46216141		Guan, S.  et al. 2006	16815693				Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4	Japanese;Chinese;Caucasian;Korean;Asian	China	CDC GDP info	1555	Hs.1360			Eur J Pharm Sci    2006	Genetic polymorphisms of cytochrome P450 2B6 gene in Han Chinese		123930		CDC	2006												
146282	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		124020		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146339	Y	hepatotoxicity, diclofenac-induced	PHARMACOGENOMIC	PHARM	Hepatitis, Toxic|Genetic Predisposition to Disease	10	10q23.33	CYP2C8	96786518	96819244		Daly, A. K.  et al. 2007	17241877				Cytochrome P450, family 2, subfamily C, polypeptide 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000770.3			CDC GDP info	1558	Hs.282871			Gastroenterology    2007    132(1)    272-81	Genetic Susceptibility to Diclofenac-Induced Hepatotoxicity		601129		CDC	2007	Allelic variants of UGT2B7, CYP2C8, and ABCC2, which may predispose to the formation and accumulation of reactive diclofenac metabolites are associated with diclofenac hepatotoxicity.											
146366		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Blood Coagulation Disorders|Vitamin K Deficiency	10	10q24	CYP2C9	96688429	96739137		Sconce, E. A.  et al. 2006	16847429				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pharmacogenet Genomics    2006    16(8)    609-611	APOE genotype makes a small contribution to warfarin dose requirements		601130		CDC	2006												
146389	N	gliclazide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Zhang, Y.  et al. 2007	17298483				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Br J Clin Pharmacol    2007	Influence of CYP2C9 and CYP2C19 genetic polymorphisms on pharmacokinetics of gliclazide MR in Chinese subjects		601130		CDC	2007	The pharmacokinetics of gliclazide MR are affected mainly by CYP2C19 genetic polymorphism instead of CYP2C9 genetic polymorphism.											
146397		warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Osman, A.  et al. 2007	17413769				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Blood Coagul Fibrinolysis    2007    18(3)    293-6	Plasma S/R ratio of warfarin co-varies with VKORC1 haplotype		601130		CDC	2007												
146427		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Dick, F.  et al. 2007	17449559				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4	European		CDC GDP info	1564	Hs.333497			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		124030		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
146431		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	22	22q13.1	CYP2D6	40852444	40856827		Povey, A. C.  et al. 2007	17536768				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Biomarkers    2007    12(2)    188-202	GST CYP and PON1 polymorphisms in farmers attributing ill health to organophosphate-containing sheep dip		124030		CDC	2007			diazinon									
146433	P		NORMALVARIATION	NV		22	22q13.1	CYP2D6	40852444	40856827		Gonzalez, I.  et al. 2007	17568504				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			Med Clin (Barc)    2007    128(20)    772-4	Study of debrisoquine hydroxylation polymorphism (CYP2D6) in the Cuban population compared to Spaniards.		124030		CDC	2007	Interethnic differences on debrisoquine hydroxylation have been demonstrated in a Cuban population.											
146444		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Kezic, S.  et al. 2006	17022435				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		124040		CDC	2006												
146455	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Fan, C.  et al. 2007	17603900				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			BMC Cancer    2007    7(1)    115	Case-only study of interactions between metabolic enzymes and smoking in colorectal cancer		124040		CDC	2007	Our results showed that the interaction between polymorphisms in CYP1B1 1294G and SULT1A1*2 may play a significant role on CRC in the Chinese population. Also, it is suggested that the association between cigarette smoking and CRC could be differentiated by the CYP1B1 1294G allele.		alcohol smoking (tobacco)									
146527	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Damaraju, S.  et al. 2006	16638864				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		605325		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146541		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Roy, J. N.  et al. 2006	16906020				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Pharmacogenet Genomics    2006    16(9)    659-665	Cyp3A4, Cyp3A5, and MDR-1 genetic influences on tacrolimus pharmacokinetics in renal transplant recipients		605325		CDC	2006	The complete absence of Cyp3A5*3 allele and the accumulation of less than three copies of MDR-1 (T-129C, C3435T and G2677T) polymorphisms are associated with lower tacrolimus blood levels identifying these genotypes as markers for patients requiring higher tacrolimus doses.											
146563	N	lansoprazole pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Miura, M.  et al. 2007	17358097				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Drug Investig    2007    27(4)    251-8	Influence of Cytochrome P450 (CYP) 3A5 Polymorphisms on the Pharmacokinetics of Lansoprazole Enantiomers in CYP2C19 Extensive Metaboliser Renal Transplant Recipients		605325		CDC	2007	Our findings show that CYP3A5 genotype is not an important determinant of enantioselective disposition of lansoprazole.											
146567	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Choi, J. H.  et al. 2007	17391324	CYP3A5*3			cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2	Korean		CDC GDP info	1574	Hs.150276			Br J Clin Pharmacol    2007	Influence of the CYP3A5 and MDR1 genetic polymorphisms on the pharmacokinetics of tacrolimus in healthy Korean subjects		605325		CDC	2007	s This study shows that the CYP3A5*3 genetic polymorphisms may be associated with the individual difference in tacrolimus pharmacokinetics. An individualized dosage regimen design incorporating such genetic information would help increase clinical efficacy of the drug while reducing adverse drug reactions.											
146575	N	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Cote, J. F.  et al. 2007	17510208				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Cancer Res    2007	UGT1A1 Polymorphism Can Predict Hematologic Toxicity in Patients Treated with Irinotecan		605325		CDC	2007	This study supports the clinical utility of identification of UGT1A1 promoter polymorphisms before LV5FU2 + CPT-11 treatment to predict early hematologic toxicity. The -3156G>A polymorphism seems to be a better predictor than the UGT1A1 (TA)(6)TAA>(TA)(7)TAA polymorphism.											
146588	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	CYP46A1	99220507	99263391		Li, Y.  et al. 2006	16960449	CYP46A1  Intron 2 (T/C)		Intron	Cytochrome P450, family 46, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006668.1			CDC GDP info	10858	Hs.25121			Dement Geriatr Cogn Disord    2006    22(5-6)    399-404	Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer's Disease in Chinese Patients		604087		CDC	2006												
146596	Y	asthma	PHARMACOGENOMIC	PHARM	Asthma|Drug Hypersensitivity	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Kim, S. H.  et al. 2006	16630147			promoter	Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2	Korean		CDC GDP info	10800	Hs.201300			Clin Exp Allergy    2006    36(4)    433-9	Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males		300201		CDC	2006	These results suggest that genetic variants of CysLTR1 are associated with AIA in a Korean population, and may modulate CysLTR1 expression.											
146599	Y	asthma dermatitis and eczema	IMMUNE	IMM	Asthma|Dermatitis, Atopic	X	Xq13.2-21.1	CYSLTR1	77414785	77469743		Arriba-Mendez, S.  et al. 2006	16846449				Cysteinyl leukotriene receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006639.2			CDC GDP info	10800	Hs.201300			Pediatr Allergy Immunol    2006    17(5)    323-8	927T>C polymorphism of the cysteinyl-leukotriene type-1 receptor (CYSLTR1) gene in children with asthma and atopic dermatitis		300201		CDC	2006												
146604	Y	asthma	PHARMACOGENOMIC	PHARM	Asthma	13	13q14.12-q21.1	CYSLTR2	48178951	48181499		Klotsman, M.  et al. 2007	17460547				Cysteinyl leukotriene receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020377.2			CDC GDP info	57105	Hs.253706			Pharmacogenet Genomics    2007    17(3)    189-196	Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast		605666		CDC	2007	The overall mean response to montelukast may be skewed towards a response phenotype by a small subset (<15%) of asthma patients. CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy. These findings require replication to establish validity and clinical utility.		montelukast									
146636		infertility, male	REPRODUCTION	REP	Oligospermia|Chromosome Deletion	Y	Yq11.223	DAZ2	23684894	23754545		Zhang, F.  et al. 2006	16674553				Deleted in azoospermia 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036648	Spanish;Chinese;European;French;German;Italian	Far East	CDC GDP info	57055	Hs.592257			Ann Hum Genet    2006    70(Pt 3)    304-13	A Frequent Partial AZFc Deletion does not Render an Increased Risk of Spermatogenic Impairment in East Asians		400026		CDC	2006												
146680	Y	sepsis	INFECTION	INF	Sepsis|Genetic Predisposition to Disease	8	8p23.2-p23.1	DEFB1	6715508	6722939		Chen, Q. X.  et al. 2007	17508030				Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3			CDC GDP info	1672	Hs.32949			Genes Immun    2007	Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population		602056		CDC	2007												
146682	N	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated	2	2q35	DES	219991342	219999705		Wang, B.  et al. 2006	16761416				Desmin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001927.3			CDC GDP info	1674	Hs.594952			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(3)    391-4	Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy		125660		CDC	2006	Neither the mutation of Ile451Met in gene encoding for Desmin exon 8 nor the mutation frequency of PAF-AH gene (G994-->T) has correlation with the DCM.											
146719	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Buning, C.  et al. 2006	16494592				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	European;German		CDC GDP info	9231	Hs.500245			Am J Gastroenterol    2006	DLG5 Variants in Inflammatory Bowel Disease		604090		CDC	2006	We could not replicate that DLG5 is a relevant disease susceptibility gene for IBD in German or Hungarian subjects.											
146726	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases	10	10q23	DLG5	79220554	79356354		Cucchiara, S.  et al. 2007	17451203				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Italian		CDC GDP info	9231	Hs.500245			World J Gastroenterol    2007    13(8)    1221-1229	Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases		604090		CDC	2007	Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD.											
146759	Y	5-fluorouracil toxicity	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Stomach Neoplasms	1	1p22	DPYD	97315887	98159203		Zhang, H.  et al. 2007	17445431				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Zhonghua Nei Ke Za Zhi    2007    46(2)    103-6	The association between DPYD gene polymorphism and chemotherapeutic toxicity of 5-FU in gastric carcinoma and colonic carcinoma.		274270		CDC	2007	DPYD*5 gene mutation contributes to reduced DPYD enzyme activity and 5-FU dysmetabolism, which is associated with accumulation of 5-FU and chemotherapeutic toxicity in patients with gastric and colonic carcinoma.											
146784		alcoholism antisocial personality disorder	CHEMDEPENDENCY	CHEM	Alcoholism|Antisocial Personality Disorder	11	11q23	DRD2	112785526	112851091		Wang, T. J.  et al. 2006	17007976				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2		Taiwan	CDC GDP info	1813	Hs.73893			Prog Neuropsychopharmacol Biol Psychiatry    2006	Possible interaction between MAOA and DRD2 genes associated with antisocial alcoholism among Han Chinese men in Taiwan		126450		CDC	2006												
146804		schizoaffective disorder schizophrenia tardive dyskinesia	PSYCH	PSY	Dyskinesia, Drug-Induced|Schizophrenia	11	11q23	DRD2	112785526	112851091		Dolzan, V.  et al. 2007	17455212				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Am J Med Genet B Neuropsychiatr Genet    2007	Polymorphisms in dopamine receptor DRD1 and DRD2 genes and psychopathological and extrapyramidal symptoms in patients on long-term antipsychotic treatment		126450		CDC	2007												
146821	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Van Den Bogaert, A.  et al. 2006	16969276				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Psychiatr Genet    2006    16(5)    209-12	No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population		126451		CDC	2006												
146864		attention deficit hyperactivity disorder methyphenidate side-effects	PHARMACOGENOMIC	PHARM	Tics|Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		McGough, J.  et al. 2006	17023870				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Am Acad Child Adolesc Psychiatry    2006	Pharmacogenetics of Methylphenidate Response in Preschoolers With ADHD		126452		CDC	2006	Emerging evidence suggests the potential for understanding the individual variability of response to and side effects of ADHD medications from the study of genetics, although additional research is required before these findings are proven to have clinical utility.											
146966		cerebral infarct, atherothrombotic	CARDIOVASCULAR	CARD	Cerebral Infarction|Intracranial Thrombosis|Atherosclerosis|Diabetes Mellitus|Hypercholesterolemia	6	6p24.1	EDN1	12398644	12404763		Yamaguchi, S.  et al. 2006	17016617				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Int J Mol Med    2006    18(5)    871-83	Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis		131240		CDC	2006												
146986	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	4	4q31.22-q31.23	EDNRA	148621579	148685555		Lisi, V.  et al. 2007	17437213	-231 G > A			Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1	Caucasian		CDC GDP info	1909	Hs.183713			J Matern Fetal Neonatal Med    2007    20(2)    145-9	Investigation of endothelin-1 type A receptor gene polymorphism (-231 G > A) in preeclampsia susceptibility		131243		CDC	2007	No association between the -231 G > A polymorphism in the EDNRA gene and preeclampsia as well as any correlation with the main clinical features of the disorder were found, thus excluding a role for this polymorphism in susceptibility to preeclampsia.											
147042	N	pancreatic cancer	CANCER	CAN	Adenocarcinoma|Pancreatic Neoplasms	7	7p12	EGFR	55054218	55242525		Lee, J.  et al. 2007	17354229				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Cancer    2007	Impact of epidermal growth factor receptor (EGFR) kinase mutations, EGFR gene amplifications, and KRAS mutations on survival of pancreatic adenocarcinoma		131550		CDC	2007	The incidence of somatic mutations in the tyrosine kinase domains of EGFR was very low and the increased gene copy number of EGFR did not significantly influence survival.											
147061		breast cancer lung cancer	CANCER	CAN		7	7p12	EGFR	55054218	55242525		Zhao, Y. L.  et al. 2007	17548322				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Chinese;Caucasian		CDC GDP info	1956	Hs.488293			Yi Chuan    2007    29(5)    547-553	Epidermal growth factor receptor mutation in non-small cell lung cancer and breast cancer.		131550		CDC	2007												
147065	Y	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Hotta, K.  et al. 2007	17607119				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			J Thorac Oncol    2007    2(7)    632-637	Clinical Significance of Epidermal Growth Factor Receptor Gene Mutations on Treatment Outcome after First-line Cytotoxic Chemotherapy in Japanese Patients with Non-small Cell Lung Cancer		131550		CDC	2007	EGFR mutations were therefore significantly associated with a better PFS in the first-line cytotoxic chemotherapy regimens. However, its association was not observed in the cytotoxic regimens administered after the relapse to gefitinib monotherapy, whereas gefitinib sensitivity was associated with an EGFR mutation even in the second-line or later treatment settings.		chemotherapy gefitinib									
147088		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Epistaxis|Arteriovenous Malformations|Intracranial Arteriovenous Malformations|Telangiectasia, Hereditary Hemorrhagic	9	9q33-q34.1	ENG	129617115	129656805		Sabba, C.  et al. 2007	17388964				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1			CDC GDP info	2022	Hs.76753			J Thromb Haemost    2007	Hereditary hemorragic telangiectasia		131195		CDC	2007	Our study evidences a higher visceral involvement in HHT1 and HHT2 compared with previous reports.											
147099		body mass diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Obesity	6	6q22-q23	ENPP1	132170852	132254043		Lyon, H. N.  et al. 2006	17065359				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	European;French;Italian		CDC GDP info	5167	Hs.527295			Diabetes    2006    55(11)    3180-3184	Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity		173335		CDC	2006												
147128		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Zusterzeel, P. L.  et al. 2006	17167268				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Gynecol Obstet Invest    2006    63(4)    209-213	Susceptibility to Pre-Eclampsia Is Associated with Multiple Genetic Polymorphisms in Maternal Biotransformation Enzymes		132810		CDC	2006	Women withthe simultaneous occurrence of two or more genetic polymorphisms in the above-mentioned biotransformation enzymes, most probably resulting in a disturbed detoxification capacity, may be at increased risk for pre-eclampsia.											
147144	Y	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	1	1q42.1	EPHX1	224064453	224099884		Nock, N. L.  et al. 2007	17548691				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	African American;Caucasian		CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		132810		CDC	2007			smoking (tobacco)									
147150	P		CANCER	CAN	Neoplasms	8	8p21-p12	EPHX2	27404561	27458403		Yoshimura, K.  et al. 2003	14634838				Epoxide hydrolase 2, cytoplasmic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001979.4			CDC GDP info	2053	Hs.212088			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		132811		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
147163		lung cancer	CANCER	CAN		17	17q11.2-q12	ERBB2	35097918	35138441		Marks, J. L.  et al. 2007	17487277				V-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004448.2			CDC GDP info	2064	Hs.446352			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		164870		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
147167		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	2	2q33.3-q34	ERBB4	211948686	213111597		Silberberg, G.  et al. 2006	16402353				V-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005235.1	Ashkenazi;Caucasian		CDC GDP info	2066	Hs.390729			Am J Med Genet B Neuropsychiatr Genet    2006    141(2)    142-8	The involvement of ErbB4 with schizophrenia		600543		CDC	2006												
147179		leukemia	CANCER	CAN	Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Wang, S. L.  et al. 2006	16723154				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Leuk Res    2006	Polymorphisms in ERCC1 and susceptibility to childhood acute lymphoblastic leukemia in a Chinese population		126380		CDC	2006												
147199		colorectal cancer	PHARMACOGENOMIC	PHARM		19	19q13.2-q13.3	ERCC1	50604711	50673926		Ruzzo, A.  et al. 2007	17549067				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		126380		CDC	2007			5-flurouracil Irinotecan									
147201		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Mechanic, L. E.  et al. 2006	16399771				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		126340		CDC	2006			smoking (tobacco)									
147205	N	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Huang, W. Y.  et al. 2006	16492920				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Cancer Epidemiol Biomarkers Prev    2006    15(2)    306-11	Nucleotide Excision Repair Gene Polymorphisms and Risk of Advanced Colorectal Adenoma		126340		CDC	2006	Examining a spectrum of polymorphic variants in nucleotide excision repair genes, we found evidence that smoking-associated risks for advanced colorectal adenoma are modified by polymorphisms in XPC, particularly haplotypes containing XPC 499V.		smoking (tobacco)									
147216		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Shen, M.  et al. 2006	16738949				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Hum Genet    2006    119(6)    659-68	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		126340		CDC	2006												
147245	Y	lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.3	ERCC2	50546685	50566016		Yin, J.  et al. 2007	17498557				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Chinese;European		CDC GDP info	2068	Hs.487294			Cancer Genet Cytogenet    2007    175(1)    47-51	A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population		126340		CDC	2007												
147251	N	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Ruzzo, A.  et al. 2007	17617021				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		126340		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
147258		lymphoma lymphoma, non-Hodgkin	CANCER	CAN		16	16p13.3-p13.11	ERCC4	13921523	13949705		Shen, M.  et al. 2006	16639601				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Hum Genet    2006	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		133520		CDC	2006												
147268		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q22	ERCC5	102249399	102326346		Mechanic, L. E.  et al. 2006	16399771				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		133530		CDC	2006			smoking (tobacco)									
147274		sarcoma	CANCER	CAN	Sarcoma	13	13q22	ERCC5	102249399	102326346		Le Morvan, V.  et al. 2006	16646069				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Int J Cancer    2006	Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients		133530		CDC	2006												
147281		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	13	13q22	ERCC5	102249399	102326346		Li, C.  et al. 2006	17164380				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2	non-Hispanic		CDC GDP info	2073	Hs.258429			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2526-32	Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and Risk of Cutaneous Melanoma		133530		CDC	2006												
147321		bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Riancho, J. A.  et al. 2006	16793950				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Eur J Endocrinol    2006    155(1)    53-9	A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density		133430		CDC	2006	These results suggest that the interaction between polymorphisms of genes involved in estrogen synthesis and estrogen signaling exerts an important influence on BMD in postmenopausal women, thus helping to explain, in part, its heritable component.											
147345		premenstrual dysphoric disorder	REPRODUCTION	REP	Genetic Predisposition to Disease|Premenstrual Syndrome|Mood Disorders	6	6q25.1	ESR1	152053407	152466099		Huo, L.  et al. 2007	17599809				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Biol Psychiatry    2007	Risk for Premenstrual Dysphoric Disorder Is Associated with Genetic Variation in ESR1, the Estrogen Receptor Alpha Gene		133430		CDC	2007	These are the first positive (albeit preliminary) genetic findings in this reproductive endocrine-related mood disorder and involve the receptor for a hormone that is pathogenically relevant.											
147386		fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Mannila, M. N.  et al. 2006	16525568				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Haemost    2006    95(3)    420-7	Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction		134570		CDC	2006												
147407		atherosclerosis, coronary fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Arteriosclerosis	6	6p25.3-p24.3	F13A1	6089309	6265923		Bereczky, Z.  et al. 2007	17250879				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007	Modulation of the risk of coronary sclerosis/myocardial infarction by the interaction between factor XIII subunit A Val34Leu polymorphism and fibrinogen concentration in the high risk Hungarian population		134570		CDC	2007	Fibrinogen concentration modulates the effect of Leu34 allele on the risk of MI; its protective effect emerges at increasing fibrinogen concentration.		fibrinogen									
147415	P		NORMALVARIATION	NV		6	6p25.3-p24.3	F13A1	6089309	6265923		Mahfouz, R. A.  et al. 2007	17516146				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2	Caucasian		CDC GDP info	2162	Hs.335513			Mol Biol Rep    2007	Factor XIII gene V34L mutation in the Lebanese population		134570		CDC	2007												
147420		cardiac death heart failure myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	1	1q31-q32.1	F13B	195274943	195303020		Gemmati, D.  et al. 2007	17515963				Coagulation factor XIII, B polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001994.1			CDC GDP info	2165	Hs.435782			Mol Med    2007    13(1-2)    112-20	Factor XIIIA-V34L and Factor XIIIB-H95R Gene Variants		134580		CDC	2007			percutaneous coronary intervention									
147427		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	11	11p11-q12	F2	46697330	46717631		Komitopoulou, A.  et al. 2006	16567932				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		176930		CDC	2006	Except for FVL, no definite											
147442	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	11	11p11-q12	F2	46697330	46717631		Vormittag, R.  et al. 2006	17155964	LRP1 663C > T			Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			J Thromb Haemost    2006	Low-density lipoprotein receptor-related protein 1 (LRP1) polymorphism 663 C>T affects clotting factor VIII activity and increases the risk of venous thromboembolism		176930		CDC	2006	According to our data the LRP1 663C > T polymorphism influences plasma FVIII levels independently of blood group, C-reactive protein and von Willebrand factor and is significantly associated with the risk of VTE.											
147451		thrombosis, cerebral	CARDIOVASCULAR	CARD	Intracranial Thrombosis	11	11p11-q12	F2	46697330	46717631		Ozyurek, E.  et al. 2007	17456624				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2	Turkish		CDC GDP info	2147	Hs.410092			Clin Appl Thromb Hemost    2007    13(2)    154-60	Significance of Factor V, Prothrombin, MTHFR, and PAI-1 Genotypes in Childhood Cerebral Thrombosis		176930		CDC	2007												
147471		thromboembolic disease	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Podciechowski, L.  et al. 2006	16875034				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3		Poland	CDC GDP info	2153	Hs.30054			Ginekol Pol    2006    77(4)    286-91, 294-5	Occurrence of plasmic and platelet prothrombotic polymorphisms in women in childbirth		227400		CDC	2006	Our study shows that factor V Leiden mutation, and investigated platelet GP Ia, and GP IIIa polymorphisms frequently coexist.											
147482	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease|Recurrence	1	1q23	F5	167747815	167822393		Vormittag, R.  et al. 2006	17155964				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			J Thromb Haemost    2006	Low-density lipoprotein receptor-related protein 1 (LRP1) polymorphism 663 C>T affects clotting factor VIII activity and increases the risk of venous thromboembolism		227400		CDC	2006	According to our data the LRP1 663C > T polymorphism influences plasma FVIII levels independently of blood group, C-reactive protein and von Willebrand factor and is significantly associated with the risk of VTE.											
147518		brain hemorrhage	CARDIOVASCULAR	CARD	Cerebral Hemorrhage|Subarachnoid Hemorrhage|Thrombosis|Genetic Predisposition to Disease	13	13q34	F7	112808105	112822996		Navarro-Nunez, L.  et al. 2007	17488662				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			Haematologica    2007    92(4)    513-8	The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men		227500		CDC	2007	This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans.											
147528		substance abuse	CHEMDEPENDENCY	CHEM	Substance-Related Disorders	1	1p35-p34	FAAH	46632578	46652104		Flanagan, J. M.  et al. 2006	16972078				Fatty acid amide hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001441.1			CDC GDP info	2166	Hs.528334			Hum Genet    2006	The fatty acid amide hydrolase 385 A/A (P129T) variant		602935		CDC	2006												
147556	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	11	11q12-q13.1	FADS2	61340324	61391401		Brookes, K. J.  et al. 2006	16893529				Fatty acid desaturase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640945			CDC GDP info	9415	Hs.502745			Biol Psychiatry    2006	Association of Fatty Acid Desaturase Genes with Attention-Deficit/Hyperactivity Disorder				CDC	2006	These preliminary findings are suggestive of an association between FADS2 and ADHD.		alcohol, maternal									
147569	Y	body mass diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	10	10q24.1	FAS	90740267	90765522		Nolsoe, R. L.  et al. 2006	16691186				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3	Danish		CDC GDP info	355	Hs.244139			Genes Immun    2006	Association of a microsatellite in FASL to type II diabetes and of the FAS-670G>A genotype to insulin resistance		134637		CDC	2006	polymorphisms of FASL and FAS associate with type II diabetes and estimates of insulin resistance in Danish white subjects.											
147584	Y	body mass diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	1	1q23	FASLG	170894807	170902635		Nolsoe, R. L.  et al. 2006	16691186				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1	Danish		CDC GDP info	356	Hs.2007			Genes Immun    2006	Association of a microsatellite in FASL to type II diabetes and of the FAS-670G>A genotype to insulin resistance		134638		CDC	2006	polymorphisms of FASL and FAS associate with type II diabetes and estimates of insulin resistance in Danish white subjects.											
147590		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	1	1q23	FASLG	170894807	170902635		Gormus, U.  et al. 2007	17465232				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			Anticancer Res    2007    27(2)    991-4	Fas-1377A/G and FasL-844 T/C gene polymorphisms and epithelial ovarian cancer		134638		CDC	2007	Because of the expressional aspects of the FasL-844T --> C polymorphism, individuals carrying the FasL-844C allele would be expected to have higher FasL expression on tumour cells compared with those carrying the FasL-844T allele. People with such a genotype show a tendency to develop various tumours.											
147609	Y	malaria	INFECTION	INF	Parasitemia|Malaria, Falciparum|Anemia	1	1q23	FCGR2A	159741843	159760427		Ouma, C.  et al. 2006	16606986				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642		Kenya	CDC GDP info	2212	Hs.352642			Am J Trop Med Hyg    2006    74(4)    573-577	ASSOCIATION OF FC{gamma} RECEPTOR IIA (CD32) POLYMORPHISM WITH MALARIAL ANEMIA AND HIGH-DENSITY PARASITEMIA IN INFANTS AND YOUNG CHILDREN		146790		CDC	2006												
147616	N	hepatitis, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Umemura, T.  et al. 2006	17020818				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Clin Immunol    2006	Lack of association between FCRL3 and FcgammaRII polymorphisms in Japanese type 1 autoimmune hepatitis		146790		CDC	2006												
147638	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Ye, D.  et al. 2006	16716162				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Clin Exp Dermatol    2006    31(4)    553-7	A novel single-nucleotide polymorphism of the Fcgamma receptor IIIa gene is associated with genetic susceptibility to systemic lupus erythematosus in Chinese populations		146740		CDC	2006	This study suggests a linkage disequilibrium of the FCGR3A-72R/S SNP with SLE, and supports the notion that a novel polymorphism of the FCGR3A-72R/S SNP is associated with genetic susceptibility to SLE in Chinese populations.											
147654	N	periodontal disease	IMMUNE	IMM	Periodontitis|Periodontal Pocket|Dental Plaque|Chronic Disease	1	1q23	FCGR3B	159859676	159867525		Wolf, D. L.  et al. 2006	16889631				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Caucasian		CDC GDP info	2215	Hs.372679			J Clin Periodontol    2006	Fcgamma receptor polymorphisms and periodontal status		610665		CDC	2006	The present data failed to demonstrate a clinically relevant relationship between the Fcgamma receptor IIa (131R/H) or IIIb (NA1/NA2) polymorphism and periodontal status.											
147664	Y	Graves' disease	IMMUNE	IMM	Graves Disease	1	1q21-q22	FCRL3	155912894	155937399			16384851				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Caucasian		CDC GDP info	115352	Hs.292449			J Clin Endocrinol Metab    2005	Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease				CDC	2005	Functional evidence suggests that the 001Msp, fcrl3_3, fcrl3_5, and fcrl3_6 SNPs could cause changes in B cell signaling and activation pathways that could account for their association with GD.											
147671	Y	rheumatoid arthritis thyroid disease, autoimmune	IMMUNE	IMM	Arthritis, Rheumatoid|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Newman, W. G.  et al. 2006	17133579				Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939	Japanese;Canadian;Caucasian		CDC GDP info	115352	Hs.292449			Arthritis Rheum    2006    54(12)    3820-3827	Rheumatoid arthritis association with the FCRL3 -169C polymorphism is restricted to PTPN22 1858T-homozygous individuals in a Canadian population				CDC	2006	Our findings support an association of RA with an FCRL3 functional polymorphism and reveal that this association is stronger in the absence of PTPN22 risk genotypes.											
147677	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	1	1q21-q22	FCRL3	155912894	155937399		Martinez, A.  et al. 2007	17617473	-169 T			Fc receptor-like 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052939			CDC GDP info	115352	Hs.292449			J Neuroimmunol    2007	FcRL3 and multiple sclerosis pathogenesis				CDC	2007	An increased susceptibility associated to the -169 T allele was found when MS patients and controls were compared, supporting the role of the FcRL3 locus in MS predisposition and therefore extending the evidence of its general influence on autoimmunity.											
147716	N	fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Mannila, M. N.  et al. 2007	17263791				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			J Thromb Haemost    2007	Elevated plasma fibrinogen gamma' concentration is associated with myocardial infarction		134830		CDC	2007	Plasma fibrinogen gamma\ concentration influences the risk of MI, and this relationship seems to be strengthened by the presence of an elevated total plasma fibrinogen concentration and the FGG 9340T and FGA 2224G alleles.											
147718	Y	lupus nephritis	IMMUNE	IMM	Lupus Nephritis|Thrombosis|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Gong, R.  et al. 2007	17469143				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Arthritis Rheum    2007    56(5)    1608-1617	Epistatic effect of plasminogen activator inhibitor 1 and beta-Fibrinogen genes on risk of glomerular microthrombosis in lupus nephritis		134830		CDC	2007	Our findings suggest that risk of GMT in lupus nephritis is attributable, at least in part, to an epistatic effect of PAI-1 and FGB genes, likely via an interaction with environmental/clinical factors, such as aCL.											
147736	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression	5	5q35.1-qter	FGFR4	176446526	176457732		Thussbas, C.  et al. 2006	16822847	Arg388			Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			J Clin Oncol    2006	FGFR4 Arg388 Allele Is Associated With Resistance to Adjuvant Therapy in Primary Breast Cancer		134935		CDC	2006	According to this study, FGFR4 Arg388 genotype is a marker for breast cancer progression in patients with adjuvant systemic therapy, particularly chemotherapy, and thus may indicate therapy resistance.		chemotherapy									
147746	N	atherosclerosis, coronary atherosclerosis, generalized	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease|Coronary Artery Disease|Aortic Diseases|Calcinosis|Genetic Predisposition to Disease	4	4q28	FGG	155744735	155753352		Kardys, I.  et al. 2007	17264959				Fibrinogen gamma chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000509.4		Netherlands	CDC GDP info	2266	Hs.546255			Thromb Haemost    2007    97(2)    288-95	Fibrinogen gene haplotypes in relation to risk of coronary events and coronary and extracoronary atherosclerosis		134850		CDC	2007	fibrinogen FGG and FGA gene haplotypes are not associated with coronary events, coronary atherosclerosis or extracoronary atherosclerosis.											
147755	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q25.3-q31.1	FIBL-6				Fuse, N.  et al. 2006	17157600				hemicentin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_031935		Japan	CDC GDP info	83872	Hs.58877			Am J Ophthalmol    2006    142(6)    1074-1076	Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration				CDC	2006	The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.											
147783	N	folate homocysteine	METABOLIC	MET		11	11p11.2	FOLH1	49124762	49186798			16522921				Folate hydrolase (prostate-specific membrane antigen) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004476.1			CDC GDP info	2346	Hs.380325			Am J Clin Nutr    2006    83(3)    708-13	Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population		600934		CDC	2006	Folate and tHcy concentrations were not affected individually by the MTHFR 1298A-->C, RFC1 80G-->A, or GCPII 1561C-->T polymorphisms or by combinations of the MTHFR 677C-->T and MTHFR 1298A-->C genotypes. An interaction between the MTHFR 677TT and RFC1 80GG genotypes was observed whereby persons with this combination had higher serum tHcy.											
147845	Y	G6PD deficiency	METABOLIC	MET	Glucosephosphate Dehydrogenase Deficiency	X	Xq28	G6PD	153412799	153428981		Au, W. Y.  et al. 2006	17077204				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3			CDC GDP info	2539	Hs.461047			J Gerontol A Biol Sci Med Sci    2006    61(10)    1086-9	Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians		305900		CDC	2006	Due to skewed X-chromosome inactivation, elderly women in populations with prevalent G6PD mutations are at risk of G6PD deficiency.		x-chromosome inactivation skewing									
147858	N	precocious puberty	DEVELOPMENTAL	DEV	Puberty, Precocious	5	5q34-q35	GABRA1	161206982	161258992		Brito, V. N.  et al. 2006	16569738				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDP info	2554	Hs.175934			J Clin Endocrinol Metab    2006	Allelic Variants of the GABA-A Receptor {alpha}-1 Subunit Gene (GABRA1) are not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with and without Electroencephalographic Abnormalities		137160		CDC	2006	GABRA1 functional mutations or polymorphisms are not associated with the intrinsic mechanism of GDPP in girls with and without EEG abnormalities.											
147865	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholism	4	4p12	GABRA2	45946462	46087178		Dick, D. M.  et al. 2006	16562401				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1			CDC GDP info	2555	Hs.116250			J Stud Alcohol    2006    67(2)    185-94	Marital status, alcohol dependence, and GABRA2		137140		CDC	2006	"These analyses provide evidence of both gene-environment correlation and gene-environment interaction associated with GABRA2, marital status, and alcohol dependence. They illustrate the complex pathways by which genotype and environmental risk factors act and interact to influence alcohol dependence and challenge traditional conceptualizations of ""environmental"" risk factors."		marital status									
147882	N	alcohol withdrawal alcoholism	CHEMDEPENDENCY	CHEM	Seizures|Alcoholism|Substance Withdrawal Syndrome	4	4p12	GABRB1	46728335	47123202		Kohnke, M.  et al. 2006	16800828				Gamma-aminobutyric acid (GABA) A receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000812.2			CDC GDP info	2560	Hs.27283			Addict Biol    2006    11(2)    152-6	The polymorphism GABAR1 T1974Crs29230 of the GABA receptor gene is not associated with the diagnosis of alcoholism or alcohol withdrawal seizures		137190		CDC	2006												
148044		autism	PSYCH	PSY	Autistic Disorder	6	6p21.3-p21.1	GLO1	38751679	38778930		Sacco, R.  et al. 2007	17346350				Glyoxalase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006708.1			CDC GDP info	2739	Hs.268849			BMC Med Genet    2007    8(1)    11	Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes		138750		CDC	2007	TPH2 gene variants are unlikely to contribute to autism or to the presence/absence of prominent repetitive behaviors in our sample, although an influence on the intensity of these behaviors in autism cannot be excluded. GLO1 gene variants do not confer autism vulnerability in this sample, but allele A419 apparently carries a protective effect, spurring inter											
148050	Y	leukemia	CANCER	CAN	Leukemia, B-cell, Chronic|Leukemia, Lymphocytic, Chronic|Disease Progression	20	20q13.2-q13.3	GNAS	56848189	56919645		Frey, U. H.  et al. 2006	17020971	GNAS1 T393C			GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDP info	2778	Hs.125898			Clin Cancer Res    2006    12(19)    5686-92	The GNAS1 T393C Polymorphism Is Associated with Disease Progression and Survival in Chronic Lymphocytic Leukemia		139320		CDC	2006	Here, we show that the GNAS1 T393C status is a novel independent prognostic marker in patients with B-CLL. These results could help to define patients who could benefit from an early individualized therapy.											
148066		body mass	METABOLIC	MET	Obesity	12	12p13	GNB3	6819378	6826818		Bouchard, L.  et al. 2007	17299381				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Int J Obes (Lond)    2007	Contribution of several candidate gene polymorphisms in the determination of adiposity changes		139130		CDC	2007	This study suggests that models including genetic information from several candidate gene polymorphisms can significantly contribute to the changes in adiposity over time, that different genes may act at different ages and that genetic information could be useful for the identification of individuals at high risk for gaining body fat over time.											
148076		transient ischemic attacks	CARDIOVASCULAR	CARD		17	17pter-p12	GP1BA	4776371	4779067		Song, Y.  et al. 2006	17029210				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    561-564	Correlation between the polymorphism of platelet glycoprotein GPIb alpha Kozak gene and transcient ischemic attack.		606672		CDC	2006	The -5T/C polymorphism of the platelet glycoprotein GPIb alpha Kozak gene is implicated in the pathogenesis of TIA. C allele is an independent risk factor for TIA.											
148082	N	coronary artery stent thrombosis	CARDIOVASCULAR	CARD	Coronary Stenosis|Coronary Restenosis|Coronary Thrombosis|Acute Disease|Genetic Predisposition to Disease|Prosthesis Failure	17	17pter-p12	GP1BA	4776371	4779067		Sucker, C.  et al. 2007	17346829				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Int J Cardiol    2007	No evidence for involvement of prothrombotic platelet receptor polymorphisms in acute coronary stent thrombosis		606672		CDC	2007												
148091		bipolar affective disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	4	4p16.1	GPR78	8633190	8640420			16389273				G protein-coupled receptor 78	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128807	Scottish		CDC GDP info	27201	Hs.350588			Mol Psychiatry    2006	Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia		606921		CDC	2006												
148106		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795			17526193				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Russian		CDC GDP info	2876	Hs.76686			Ter Arkh    2007    79(3)    33-6	Smoking status increases risk of bronchial asthma in heterozygous carriers of Pro198Leu mutation within glutathione peroxidase-1 gene		138320		CDC	2007	The risk of allergic BA associated with smoking is increased in males who are heterozygous carriers for the low-activity 198Leu allele of the glutathione peroxidase-1 gene. The importance of molecular mechanisms is shown by which functional variants of antioxidant defense genes may mediate potentially oxidative effects of tobacco smoke on asthmatic phenotype		smoking (tobacco)									
148135		hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	GRK4	2935140	2938375		Gu, D.  et al. 2006	16636198				G protein-coupled receptor kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_182982.2			CDC GDP info	2868	Hs.32959			Hypertension    2006	Association Study With 33 Single-Nucleotide Polymorphisms in 11 Candidate Genes for Hypertension in Chinese		137026		CDC	2006												
148178		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	1	1p13.3	GSTM1	110031964	110037890			16521944				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Przegl Lek    2005    62(10)    1019-22	Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate		138350		CDC	2005			smoking (tobacco)									
148191		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Ruzzo, A.  et al. 2006	16622263				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		138350		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
148202	Y	colorectal cancer stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Martinez, C.  et al. 2006	16886896				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Pharmacogenomics    2006    7(5)    711-718	Glutathione S-transferases mu1, theta1, pi1, alpha1 and mu3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans		138350		CDC	2006	This study indicates that GST polymorphisms, in particular the GSTM1/GSTT1 double-null haplotype, can be considered low-penetrance genes for gastrointestinal cancer.		smoking (tobacco)									
148230	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Nordgard, S. H.  et al. 2007	17301692				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Caucasian		CDC GDP info	2944	Hs.301961			Pharmacogenet Genomics    2007    17(2)    127-136	ABCB1 and GST polymorphisms associated with TP53 status in breast cancer		138350		CDC	2007	An association between polymorphisms in GSTP1 and ABCB1 and risk of acquiring intratumoral TP53 mutations suggests the existence of putative predisposing genotype backgrounds.											
148356	Y	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Ruzzo, A.  et al. 2007	17617021	GSTP1 105A/G			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		134660		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
148366		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	22	22q11.23	GSTT1	22706140	22714231			16521944				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Przegl Lek    2005    62(10)    1019-22	Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate		600436		CDC	2005			smoking (tobacco)									
148390		limb deficiency defects	DEVELOPMENTAL	DEV	Limb Deformities, Congenital	22	22q11.23	GSTT1	22706140	22714231		Carmichael, S. L.  et al. 2006	16906563				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Am J Med Genet A    2006	Risk of limb deficiency defects associated with NAT1, NAT2, GSTT1, GSTM1, and NOS3 genetic variants, maternal smoking, and vitamin supplement intake		600436		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
148413	N	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Landi, S.  et al. 2007	17290392				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		600436		CDC	2007			asbestos									
148434	N	cyclophosphamide pharmacokinetics	PHARMACOGENOMIC	PHARM	Lymphoma|Breast Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Nakajima, M.  et al. 2007	17502835				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Pharmacogenet Genomics    2007    17(6)    431-45	Genetic polymorphisms of CYP2B6 affect the pharmacokinetics/pharmacodynamics of cyclophosphamide in Japanese cancer patients		600436		CDC	2007	We clarified that the single nucleotide polymorphisms in the promoter region or introns in the CYP2B6 affect the potency of cyclophosphamide activation to 4-hydroxycyclophosphamide. This information would be valuable for predicting adverse reactions and the clinical efficacy of cyclophosphamide.											
148465		asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q33.2	HAVCR1	156389014	156418548		Liu, Q.  et al. 2007	17570927				Hepatitis A virus cellular receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012206.1			CDC GDP info	26762	Hs.129711			Int Arch Allergy Immunol    2007    144(3)    197-202	A Functional Polymorphism in the TIM-1 Gene Is Associated with Asthma in a Chinese Han Population		606518		CDC	2007	Our findings suggest that the -416G>C variation site in the human TIM-1 promoter region is associated with asthma susceptibility in a Chinese Han population. Copyright (c) 2007 S. Karger AG, Basel.											
148502		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1q32	HF2				Akbas, N.  et al. 2006	16935420				complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=AK226113			CDC GDP info	3075	Hs.363396			Neurosci Lett    2006	Screening for mutations of the HFE gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra				CDC	2006												
148549		Rubella vaccine, cytokine response to	IMMUNE	IMM		6	6p21.3	HLA-A	29963507	30085130		Ovsyannikova, I. G.  et al. 2007	17215337				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Clin Vaccine Immunol    2007	Relationship between HLA Polymorphisms and IFN-{gamma} and IL-10 Cytokine Production in Healthy Individuals after Rubella Vaccination		142800		CDC	2007												
148618		atopy	IMMUNE	IMM	Hypersensitivity, Immediate|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		De Silvestri, A.  et al. 2006	16788244				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Dis Markers    2006    22(3)    111-7	Non classical HLA genes and non-HLA genes in a population of infants at familial risk of atopy		142840		CDC	2006	Our study confirms that HLA class III region seems involved in familial predisposition to atopy, and C4B gene probably acts as a marker of a more restricted subregion.											
148627	P		NORMALVARIATION	NV		6	6p21.3	HLA-C	31344507	31432914		Liu, J.  et al. 2006	17029201				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(5)    528-531	Genetic polymorphism of HLA-Cw locus in hematopoietic stem cell transplantation patient and donor population.		142840		CDC	2006	This study may serve a full-scale scientific genetic parameters of HLA-Cw genes for Chinese Han population studies.											
148646		condyloma acuminata	INFECTION	INF		6	6p21.3	HLA-DMA	33024372	33028831		Yang, W. L.  et al. 2006	16864101				Major histocompatibility complex, class II, DM alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK055186			CDC GDP info	3108	Hs.351279			Nan Fang Yi Ke Da Xue Xue Bao    2006    26(7)    1014-6	HLA-DM gene polymorphism in Cantonese with condyloma acuminata.		142855		CDC	2006	DMA*0101 and DMB*0101 alleles may be the susceptibility genes or closely linked to the susceptibility gene in Cantonese patients with CA.											
148660		leukemia	CANCER	CAN	Leukemia|Graft vs Host Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Morishima, Y.  et al. 2007	17317585				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Biol Blood Marrow Transplant    2007    13(3)    315-28	Effects of HLA Allele and Killer Immunoglobulin-Like Receptor Ligand Matching on Clinical Outcome in Leukemia Patients Undergoing Transplantation With T-cell-Replete Marrow From an Unrelated Donor		142858		CDC	2007	not only the mismatch of HLA-C and -DPB1, but also KIR-L-MM-G affected leukemia relapse, which should be considered based on leukemia cell type. Furthermore, KIR-L-MM induced adverse effects on acute GVHD (aGVHD) and rejection, and brought no survival benefits to patients with T-cell-replete UR-BMT.											
148684	Y	hepatitis B	INFECTION	INF	Hepatitis B|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Lu, L. P.  et al. 2006	16733891	HLA-DQA1 * 0302 risk;  HLA-DQA1 * 0301 and HLA-DQA1 * 0102 protective			Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Zhongguo Yi Xue Ke Xue Yuan Xue Bao    2006    28(2)    134-42	Association of polymorphisms of human leucocyte antigen -DRB1 and -DQA1 allele with outcomes of hepatitis B virus infection in Han population of north China		146880		CDC	2006	The subjects with HLA-DQA1 * 0302 allele have an increased risk to chronic HB infection compared with other subjects without this allele, while HLA-DQA1 * 0301 and HLA-DQA1 * 0102 are associated with HBV clearness. Gene-environment interaction can affect the outcomes of HBV infection.		alcohol smoking (tobacco)									
148702	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Buc, M.  et al. 2006	16964961				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Endocr Regul    2006    40(1)    1-6	Associations between HLA class II alleles and type 1 diabetes mellitus in the Slovak population		146880		CDC	2006												
148711	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQA1	32713160	32722817		Brick, C.  et al. 2007	17306585				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	French;Italian;Moroccan;Portuguese;Sardinian;Tunisian		CDC GDP info	3117	Hs.387679			Transfus Clin Biol    2007	HLA-A, -B, -DR and -DQ allele and haplotype frequencies in the Moroccan population		146880		CDC	2007	Our results confirm and extend the current knowledge about the Moroccan genetic pattern and reflect all the ethnic diversity of the country.											
148725		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Rehman, S.  et al. 2007	17578052				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			J Heart Valve Dis    2007    16(3)    300-4	Human leukocyte antigen (HLA) class II association with rheumatic heart disease in Pakistan		146880		CDC	2007	These results show that HLA-DRB1*07, associated with RHD in various world populations, is also associated with RHD in the Pakistani population. The validation of HLA associations with RHD, which is observed in different world populations, may lead to the development of a cost-effective strategy in the primary prevention of this disease.											
148733		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374			16420246				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian;European		CDC GDP info	3119	Hs.409934			Pigment Cell Res    2006    19(1)    51-7	HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset		604305		CDC	2006												
148738		hepatitis C	INFECTION	INF	Hepatitis C	6	6p21.3	HLA-DQB1	32735641	32742374		Hong, X.  et al. 2005	16437632				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			World J Gastroenterol    2005    11(46)    7302-7	Human leukocyte antigen class II DQB1*0301, DRB1*1101 alleles and spontaneous clearance of hepatitis C virus infection		604305		CDC	2005	These results support the hypothesis that specific HLA class II alleles might influence the susceptibility or resistance to persistent HCV infection.											
148739			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Liu, Y.  et al. 2006	16441488				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    67(2)    157-9	Polymorphism of HLA class II genes in Miao and Yao nationalities of Southwest China		604305		CDC	2006												
148749		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Koskinen, W. J.  et al. 2006	16573562				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Finnish		CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    67(3)    237-40	HLA-DRB1, -DQB1 alleles in head and neck carcinoma patients		604305		CDC	2006												
148790		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Cintado, A.  et al. 2006	16916661				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hum Immunol    2006    67(8)    639-42	HLA DQA1*0501 and DQB1*02 in Cuban Celiac Patients		604305		CDC	2006	we found that the proportion of our celiac patients carrying DQ2 was similar to the proportion of CD patients reported in populations with different genetic backgrounds.											
148801		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Kubler, K.  et al. 2006	17016821				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDP info	3119	Hs.409934			Int J Cancer    2006	HLA-class II haplotype associations with ovarian cancer		604305		CDC	2006												
148813		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Rassi, D. M.  et al. 2006	17130569				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Brazilian	Brazil	CDC GDP info	3119	Hs.409934			Ann N Y Acad Sci    2006    1079    300-4	TNFa-e Microsatellite, HLA-DRB1 and -DQB1 Alleles and Haplotypes in Brazilian Patients Presenting Recently Diagnosed Type 1 Diabetes Mellitus		604305		CDC	2006												
148838		diabetes, type 1 thyroid autoimmunity	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Howson, J. M.  et al. 2007	17334650				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Diabetologia    2007    50(4)    741-746	A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene		604305		CDC	2007	 Our results identify a subgroup of type 1 diabetic patients that is sensitive to allelic variation of the negative regulatory molecule CTLA-4 and indicate that TPOAbs testing could be used to subclassify type 1 diabetes patients for inclusion in genetic, biological or clinical studies.											
148861		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis	6	6p21.3	HLA-DQB1	32735641	32742374		Alves-Leon, S. V.  et al. 2007	17489940				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Brazilian;European	Brazil	CDC GDP info	3119	Hs.409934			Acta Neurol Scand    2007    115(5)    306-11	Ethnicity-dependent association of HLA DRB1-DQA1-DQB1 alleles in Brazilian multiple sclerosis patients		604305		CDC	2007	Heterogeneous phenotypes occur in both Brazilian ethnic groups.											
148869		rheumatic fever	IMMUNE	IMM	Rheumatic Fever|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Stanevicha, V.  et al. 2007	17559688				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Arthritis Res Ther    2007    9(3)    R58	HLA Class II DR and DQ genotypes and haplotypes associated with rheumatic fever among clinically homogenous patients in children in Latvia		604305		CDC	2007												
148907		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Nakanishi, K.  et al. 2006	16731854				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Japan	CDC GDP info	3123	Hs.534322			Diabetes    2006    55(6)    1862-8	Combination of HLA-A24, -DQA1*03, and -DR9 Contributes to Acute-Onset and Early Complete {beta}-Cell Destruction in Type 1 Diabetes		142857		CDC	2006												
148924		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Ogata, T.  et al. 2006	16879749				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Belgian;Canadian		CDC GDP info	3123	Hs.534322			BMC Med Genet    2006    7(1)    67	Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population		142857		CDC	2006	This study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
148936		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Pavoni, D. P.  et al. 2006	16972006			promoter	major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian		CDC GDP info	3123	Hs.534322			Braz J Med Biol Res    2006    39(9)    1227-32	Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem)		142857		CDC	2006												
148941		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kubler, K.  et al. 2006	17016821				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Caucasian		CDC GDP info	3123	Hs.534322			Int J Cancer    2006	HLA-class II haplotype associations with ovarian cancer		142857		CDC	2006												
148942	Y	vitiligo	IMMUNE	IMM	Vitiligo	6	6p21.3	HLA-DRB1	32593131	32665559		Abanmi, A.  et al. 2006	17021767				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Saudi		CDC GDP info	3123	Hs.534322			Arch Dermatol Res    2006	Association of HLA loci alleles and antigens in Saudi patients with vitiligo		142857		CDC	2006												
148979		diabetes, type 1 thyroid autoimmunity	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DRB1	32593131	32665559		Howson, J. M.  et al. 2007	17334650				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Diabetologia    2007    50(4)    741-746	A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene		142857		CDC	2007	 Our results identify a subgroup of type 1 diabetic patients that is sensitive to allelic variation of the negative regulatory molecule CTLA-4 and indicate that TPOAbs testing could be used to subclassify type 1 diabetes patients for inclusion in genetic, biological or clinical studies.											
149022		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Kudat, H.  et al. 2006	16426242				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987			CDC GDP info	3125	Hs.554754			Int J Immunogenet    2006    33(1)    41-4	The role of HLA molecules in susceptibility to chronic rheumatic heart disease				CDC	2006												
149038		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559			16405603				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692	Brazilian		CDC GDP info	3127	Hs.534322			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		604776		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
149059	Y	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-G	29902722	30085613		Glas, J.  et al. 2007	17446213				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Int Immunol    2007	The 14-bp deletion polymorphism in the HLA-G gene displays significant differences between ulcerative colitis and Crohn's disease and is associated with ileocecal resection in Crohn's disease		142871		CDC	2007												
149082		diabetes, gestational	METABOLIC	MET		20	20q12-q13.1	HNF4A	42417854	42493444		Shaat, N.  et al. 2006	16639597				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.	Scandinavian		CDC GDP info	3172	Hs.116462			Diabetologia    2006	Common variants in MODY genes increase the risk of gestational diabetes mellitus		600281		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
149101	N	congenital absense of uterus and vagina	DEVELOPMENTAL	DEV		7	7p15-p14	HOXA10	27176734	27186368		Lalwani, S.  et al. 2007	17482600				Homeo box A10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018951.3			CDC GDP info	3206	Hs.592166			Fertil Steril    2007	HOXA10 mutations in congenital absence of uterus and vagina		142957		CDC	2007	Because no HOXA10 gene mutations were found in 26 patients from 25 unrelated families, germ- line mutations in the HOXA10 gene are not a common cause of CAUV.											
149110	Y	talipes equinovarus	DEVELOPMENTAL	DEV		2	2q31.1	HOXD13	176665777	176668912		Wang, L.  et al. 2005	16331564				Homeobox D13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000523			CDC GDP info	3239	Hs.152414			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2005    22(6)    653-6	Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus.		142989		CDC	2005	rs847154 located in 5\ flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.											
149114	N	albumin C-reactive protein fibrinogen haptoglobin HIV iron levels transferrin saturation	METABOLIC	MET	HIV Seropositivity|Disease Progression	16	16q22.1	HP	70646008	70652458		Zaccariotto, T. R.  et al. 2006	16644889				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2	Brazilian		CDC GDP info	3240	Hs.134406			J Clin Pathol    2006    59(5)    550-3	Haptoglobin polymorphism in a HIV-1 seropositive Brazilian population		140100		CDC	2006	No association was found between Hp genotype and either HIV status or indices of HIV progression.											
149127	P		NORMALVARIATION	NV		4	4q21.3	HPSE	84435496	84475330		Ostrovsky, O.  et al. 2007	17095861				Heparanase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006665.3	Ashkenazi;CaucIsraeli;Jewish	Middle East|Israel|Europe|Mediterranean Region	CDC GDP info	10855	Hs.44227			Acta Haematol    2007    117(1)    57-64	Characterization of HPSE gene single nucleotide polymorphisms in Jewish populations of Israel		604724		CDC	2007												
149140		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17q11-q21	HSD17B1	37957509	37960757		Cunningham, J. M.  et al. 2007	17507624				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDP info	3292	Hs.50727			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		109684		CDC	2007												
149142	P		CANCER	CAN	Neoplasms	16	16q24.1-q24.2	HSD17B2	80626363	80689638		Yoshimura, K.  et al. 2003	14634838				Hydroxysteroid (17-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002153.1			CDC GDP info	3294	Hs.162795			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		109685		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
149151		body mass	METABOLIC	MET		1	1p13.1	HSD3B2	119758792	119790645		Vohl, M. C.  et al. 1994	16353595				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415	Quebec		CDC GDP info	3284	Hs.825			Obes Res    1994    2(5)    444-9	Relation between BglII polymorphism in 3beta-hydroxysteroid dehydrogenase gene and adipose tissue distribution in humans		201810		CDC	1994												
149164	N	sarcoidosis uveitis	IMMUNE	IMM	Uveitis|Sarcoidosis	6	6p21.3	HSPA1A	31891298	31893698		Spagnolo, P.  et al. 2007	17591867	HSP-70/Hom rs2075800 G			Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4			CDC GDP info	3303	Hs.405994			Invest Ophthalmol Vis Sci    2007    48(7)    3019-25	Association between Heat Shock Protein 70/Hom Genetic Polymorphisms and Uveitis in Patients with Sarcoidosis		140550		CDC	2007	A strong association was found between HSP-70/Hom rs2075800 G and uveitis in patients with sarcoidosis. Further studies are needed to understand the molecular mechanisms underlying this association.											
149295	N	dyspepsia	OTHER	OTH	Dyspepsia	X	Xq24	HTR2C	113724806	114050880		Camilleri, C. E.  et al. 2006	16464220				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		312861		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
149300	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xq24	HTR2C	113724806	114050880		Li, J.  et al. 2006	16959425				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1		China	CDC GDP info	3358	Hs.149037			Neurosci Lett    2006	Association between polymorphisms in serotonin 2C receptor gene and attention-deficit/hyperactivity disorder in Han Chinese subjects		312861		CDC	2006												
149330	P		NORMALVARIATION	NV	Diabetes Mellitus, Type 2	12	12p12.3-p12.1	IAPP	21417084	21423683		Garcia-Gonzalez, C. L.  et al. 2006	16950544				Islet amyloid polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000415.1	Mexican;Asian	Mexico	CDC GDP info	3375	Hs.46835			Diabetes Res Clin Pract    2006	Amylin S20G mutation in Mexican population		147940		CDC	2006												
149342	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		19	19p13.3-p13.2	ICAM1	10242778	10258291		Lu, F.  et al. 2006	16604496				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    195-7	A study on K469E polymorphism of ICAM1 gene and ICAM1 plasma level in patients with coronary heart disease.		147840		CDC	2006	There is the polymorphism of ICAM1 K469E gene in Han population of China, and the K allele may be a genetic factor influencing the risk of CHD.											
149376	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	2	2q24	IFIH1	162831834	162883285		Marinou, I.  et al. 2007	17442111				Interferon induced with helicase C domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022168	Caucasian		CDC GDP info	64135	Hs.163173			Arthritis Res Ther    2007    9(2)    R40	The interferon-induced helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis		606951		CDC	2007												
149381	Y	hepatitis B, chronic	INFECTION	INF	Hepatitis B, Chronic|Convalescence|Genetic Predisposition to Disease	21	21q22.1	IFNAR1	33619083	33653998		Zhou, J.  et al. 2006	17125879			promoter	Interferon (alpha, beta and omega) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000629.2	Chinese;Caucasian		CDC GDP info	3454	Hs.529400			J Hepatol    2006	Polymorphisms of type I interferon receptor 1 promoter and their effects on chronic hepatitis B virus infection		107450		CDC	2006	Our results showed that polymorphisms of IFNAR1 promoter may affect, at least in part, the outcomes of HBV infection.											
149397		celiac disease	IMMUNE	IMM	Celiac Disease	12	12q14	IFNG	66834816	66839788			16540751				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2		Italy	CDC GDP info	3458	Hs.856			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		147570		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
149449	N	colorectal cancer	CANCER	CAN		12	12q14	IFNG	66834816	66839788		Talseth, B. A.  et al. 2007	17454884				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		147570		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
149498		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	12	12q22-q23	IGF1	101313805	101398454		Goddard, K. A.  et al. 2006	17179726				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		147440		CDC	2006												
149566		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Lan, Q.  et al. 2006	16449530				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Blood    2006	Cytokine polymorphisms in the Th1/Th2 pathway and susceptibility to non-Hodgkin lymphoma		124092		CDC	2006												
149614		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Babel, N.  et al. 2006	17209781				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Periodontol    2006    77(12)    1978-1983	Analysis of Tumor Necrosis Factor-alpha, Transforming Growth Factor-beta, Interleukin-10, IL-6, and Interferon-gamma Gene Polymorphisms in Patients With Chronic Periodontitis		124092		CDC	2006	The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.											
149617	N	kidney transplant	RENAL	REN		1	1q31-q32	IL10	205007570	205012462		Azarpira, N.  et al. 2006	17238853				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Exp Clin Transplant    2006    4(2)    528-31	Cytokine gene polymorphisms in renal transplant recipients		124092		CDC	2006	Our results demonstrate that cytokine gene polymorphisms did not influence the early outcome of kidney transplantation.											
149669		Takayasu's arteritis	CARDIOVASCULAR	CARD	Takayasu Arteritis|Takayasu Arteritis|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Saruhan-Direskeneli, G.  et al. 2006	17002904				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			Hum Immunol    2006    67(9)    735-740	Interleukin (IL)-12, IL-2, and IL-6 Gene Polymorphisms in Takayasu's Arteritis from Turkey		161560		CDC	2006												
149675		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	3	3p12-q13.2	IL12A	161189322	161196500		Seno, H.  et al. 2007	17444864				Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000882.2			CDC GDP info	3592	Hs.673			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		161560		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
149680	N	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Chang, Y. T.  et al. 2006	16681592				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Clin Exp Dermatol    2006    31(3)    419-23	No association of cytokine gene polymorphisms in Chinese patients with atopic dermatitis		161561		CDC	2006	Our study suggests that the analysed genetic polymorphisms of cytokine genes do not appear to be associated with AD susceptibility in our Chinese population.											
149691	Y	leprosy tuberculosis	INFECTION	INF	Leprosy|Tuberculosis|Genetic Predisposition to Disease	5	5q31.1-q33.1	IL12B	158674368	158690059		Morahan, G.  et al. 2007	17445208				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2	Indian		CDC GDP info	3593	Hs.674			Tissue Antigens    2007    69 Suppl 1    234-6	Association of variants in the IL12B gene with leprosy and tuberculosis		161561		CDC	2007												
149762		allergic rhinitis IgE	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Sebelova, S.  et al. 2007	17252172				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			J Hum Genet    2007	Interleukin-18 and its three gene polymorphisms relating to allergic rhinitis		600953		CDC	2007												
149773		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pneumoconiosis	2	2q12	IL18R1	102345528	102381649		Nadif, R.  et al. 2006	16971411				Interleukin 18 receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003855.2			CDC GDP info	8809	Hs.469521			Eur Respir J    2006	IL18 and IL18R1 polymorphisms, lung HRCT and fibrosis		604494		CDC	2006			dust smoking (tobacco)									
149797	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Infante, J.  et al. 2007	17290104				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Dement Geriatr Cogn Disord    2007    23(4)    215-218	Interaction between Poly(ADP-Ribose) Polymerase 1 and Interleukin 1A Genes Is Associated with Alzheimer's Disease Risk		147760		CDC	2007				IL1A		PARP1						
149829	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Brown, E. E.  et al. 2006	16702372				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Italian	Italy	CDC GDP info	3553	Hs.126256			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		147720		CDC	2006												
149836	Y	stomach cancer	CANCER	CAN	Carcinoma|Stomach Neoplasms|Genetic Predisposition to Disease|Genomic Instability	2	2q14	IL1B	113303807	113310827		Shirai, K.  et al. 2006	16824064	IL-8-251 T/T (low expression genotype)	IL-8-251 T/T (low expression genotype)		Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			J Gastroenterol Hepatol    2006    21(7)    1129-35	Interleukin-8 gene polymorphism associated with susceptibility to non-cardia gastric carcinoma with microsatellite instability		147720		CDC	2006	Our study shows that MSI-H GC is associated with IL-8-251 T/T (low expression genotype) and is inversely correlated with cigarette smoking.		smoking (tobacco)									
149845		H. pylori infection	INFECTION	INF		2	2q14	IL1B	113303807	113310827		Ishida, Y.  et al. 2006	17003844				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Int J Med Sci    2006    3(4)    135-40	Eradication rate of Helicobacter pylori according to genotypes of CYP2C19, IL-1B, and TNF-A		147720		CDC	2006	The present study confirmed the low eradication rate for RM.											
149857		laryngeal cancer pharyngeal cancer	CANCER	CAN	Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms|Inflammation	2	2q14	IL1B	113303807	113310827		Campa, D.  et al. 2007	17356794				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Cancer Causes Control    2007    18(4)    449-55	Association of common polymorphisms in inflammatory genes with risk of developing cancers of the upper aerodigestive tract		147720		CDC	2007	To our knowledge, this is the first report on the role of these polymorphisms with respect to UADT carcinogenesis.											
149862	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1B	113303807	113310827		van Minkelen, R.  et al. 2007	17413037				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Arterioscler Thromb Vasc Biol    2007	Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the Risk of Venous Thrombosis		147720		CDC	2007	We found that IL1RN-H5H5 carriership increases the risk of venous thrombosis.											
149867		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		Virtanen, I. M.  et al. 2007	17471097				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		147720		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
149883	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease|Inflammation	2	2q12	IL1R1	102125677	102162766		van Minkelen, R.  et al. 2007	17413037				Interleukin 1 receptor, type I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000877.2			CDC GDP info	3554	Hs.557403			Arterioscler Thromb Vasc Biol    2007	Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the Risk of Venous Thrombosis		147810		CDC	2007	We found that IL1RN-H5H5 carriership increases the risk of venous thrombosis.											
149892		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Immune System Diseases|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064			16519819				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			BMC Med Genet    2006    7(1)    20	Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases		147679		CDC	2006	Polymorphisms in a variety of genes previously associated with immune-mediated disease susceptibility and/or having effects on gene function and the immune system, are unlikely to be affecting T1D susceptibility in a major way, even though some of the genes tested encode proteins of immune pathways that are believed to be central to the development of T1D. W											
149909		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	2	2q14.2	IL1RN	113573407	113608064		Basturk, B.  et al. 2006	16938461				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147679		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149912	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis	2	2q14.2	IL1RN	113573407	113608064		Pieroni, F.  et al. 2006	17113632				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Thromb Res    2006	Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)		147679		CDC	2006	Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.											
149949	N	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Hsieh, Y. Y.  et al. 2007	17222831			promoter	Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		147680		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
149955		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q26-q27	IL2	123592075	123597100		Amirzargar, A.  et al. 2007	17439892				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Mult Scler    2007    13(2)    253-5	Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients		147680		CDC	2007												
149999			NORMALVARIATION	NV		5	5q31.1	IL4	132037271	132046267		Bagheri, M.  et al. 2006	16734562				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	African American;German;Greek;Iranian;Italian;Asian		CDC GDP info	3565	Hs.73917			J Interferon Cytokine Res    2006    26(6)    414-20	Cytokine single nucleotide polymorphisms in iran		147780		CDC	2006												
150015	N	allergy	IMMUNE	IMM	Respiratory Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Kim, H. A.  et al. 2006	17209513				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			J UOEH    2006    28(4)    369-79	No potential role of genetic polymorphisms for IL-4, IL-13 and IL-4 receptor in respiratory allergy		147780		CDC	2006												
150048	Y	allergic reaction, betalactam	PHARMACOGENOMIC	PHARM		16	16p11.2-12.1	IL4R	27232751	27283600		Gueant-Rodriguez, R. M.  et al. 2006	17001290				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Pharmacogenet Genomics    2006    16(10)    713-719	Gene-gene interactions of IL13 and IL4RA variants in immediate allergic reactions to betalactam antibiotics		147781		CDC	2006	Our data suggest that these combinations of IL13 and IL4RA variants are predictors of immediate allergic reactions to betalactams through a mechanism related to IgE production.											
150058			NORMALVARIATION	NV		16	16p11.2-12.1	IL4R	27232751	27283600		Kaur, G.  et al. 2007	17257312				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Indian		CDC GDP info	3566	Hs.513457			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147781		CDC	2007												
150097	Y	trypanosomiasis	INFECTION	INF	Trypanosomiasis, African|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Courtin, D.  et al. 2006	16720107				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Infect Genet Evol    2006	Association between human African trypanosomiasis and the IL6 gene in a Congolese population		147620		CDC	2006												
150120		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p21	IL6	22733322	22738141		Vogel, U.  et al. 2006	16959787				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Carcinogenesis    2006	Peroxisome profilerator-activated receptor{gamma}2 Pro12Ala, interaction with alcohol intake and NSAID use, in relation to risk of breast cancer in a prospective study of Danes		147620		CDC	2006			alcohol nonsteroidal anti-inflammatory (NSAID)									
150139		periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Babel, N.  et al. 2006	17209781				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Periodontol    2006    77(12)    1978-1983	Analysis of Tumor Necrosis Factor-alpha, Transforming Growth Factor-beta, Interleukin-10, IL-6, and Interferon-gamma Gene Polymorphisms in Patients With Chronic Periodontitis		147620		CDC	2006	The -174IL-6 and TGF-beta1 (codon 25) single-nucleotide polymorphisms are associated with susceptibility to chronic periodontitis in the population studied.											
150165	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1q21	IL6R	152644292	152706812		Zhang, M.  et al. 2006	17160948				Interleukin 6 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000565.2			CDC GDP info	3570	Hs.591492			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    662-4	Association study of single nucleotide polymorphism of interleukin 6 receptor gene and type 2 diabetes in Chinese Han population.		147880		CDC	2006	The above results suggest that the D358A polymorphism of IL6R maybe correlate with type 2 diabetes in Chinese Han population.											
150195	N	vesicoureteral reflux	OTHER	OTH	Kidney Diseases|Vesico-Ureteral Reflux|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Kuroda, S.  et al. 2007	17211588				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Pediatr Surg Int    2007	Lack of association of IL8 gene polymorphisms with familial vesico-ureteral reflux		146930		CDC	2007												
150241	Y	diabetes, gestational insulin	METABOLIC	MET	Diabetes, Gestational	11	11p15.5	INS	2106922	2139015		Litou, H.  et al. 2006	17011062				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			CDC GDP info	3630	Hs.89832			Diabetes Res Clin Pract    2006	Increased prevalence of VNTR III of the insulin gene in women with gestational diabetes mellitus (GDM)		176730		CDC	2006	The INS-VNTR class III is more frequent in women who develop GDM, and may be associated with decreased ability of the beta cell to meet the increased insulin requirements as reflected by the need for insulin supplementation for adequate glycaemic control.											
150262	Y	sepsis	INFECTION	INF	Sepsis|Shock, Septic|Translocation, Genetic	X	Xq28	IRAK1	152929150	152938536			16528020				Interleukin-1 receptor-associated kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001569.3	Caucasian		CDC GDP info	3654	Hs.522819			Am J Respir Crit Care Med    2006	Variant IRAK-1 Haplotype is Associated with Increased NF-{kappa}B Activation and Worse Outcomes in Sepsis		300283		CDC	2006	These results indicate that the IRAK-1 variant haplotype is functionally significant in patients with sepsis, being associated with increased nuclear translocation of NF-kappaB, more severe organ dysfunction, and higher mortality.											
150277		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31.1	IRF1	131846683	131859158		Silverberg, M. S.  et al. 2007	17213842				Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1	Ashkenazi;Jewish		CDC GDP info	3659	Hs.436061			Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		147575		CDC	2007												
150296	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational	2	2q36	IRS1	227308181	227372719			16522427				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1			CDC GDP info	3667	Hs.471508			Am J Obstet Gynecol    2006    194(3)    868-72	Association of insulin receptor substrate-1 G972R variant with baseline characteristics of the patients with gestational diabetes mellitus		147545		CDC	2006	IRS-1 G972R was associated with the baseline characteristics of the patients with GDM, and might be related to insulin resistance that is seen in obese patients with GDM.											
150306		colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms|Insulin Resistance	2	2q36	IRS1	227308181	227372719		Gunter, M. J.  et al. 2007	17416760				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Caucasian		CDC GDP info	3667	Hs.471508			Cancer Epidemiol Biomarkers Prev    2007    16(4)    703-8	Insulin resistance-related genes and advanced left-sided colorectal adenoma		147545		CDC	2007	we found limited evidence for a role of gene variants of the insulin signaling pathway and prevalence of advanced colorectal adenoma.		body mass glycemic load									
150314		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	5	5q11.2	ISL1	50714714	50726320		Yokoi, N.  et al. 2006	16873704				ISL LIM homeobox 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002202	Japanese;European		CDC GDP info	3670	Hs.505			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		600366		CDC	2006												
150335	Y	stroke, ischemic	CARDIOVASCULAR	CARD		5	5q23-q31	ITGA2	52320912	52426366		Matarin, M.  et al. 2007	17534386				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			J Cereb Blood Flow Metab    2007	Association of integrin alpha2 gene variants with ischemic stroke		192974		CDC	2007												
150358	Y	kidney cancer	CANCER	CAN	Carcinoma, Renal Cell|Kidney Neoplasms	17	17q21.32	ITGB3	42686206	42745076		Kallio, J. P.  et al. 2006	16831169				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			BJU Int    2006    98(1)    201-4	Genetic variation in platelet integrin alphabeta (GPIIb/IIIa) and the metastatic potential of renal cell carcinoma		173470		CDC	2006	The prothrombotic Pl(A2) allele of platelet fibrinogen receptor GPIIb/IIIa increased the risk of metastases in RCC in men.											
150362	N	aspirin sensitivity	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Chronic Disease	17	17q21.32	ITGB3	42686206	42745076		Bernardo, E.  et al. 2006	17127487				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			CDC GDP info	3690	Hs.218040			Platelets    2006    17(8)    586-90	Lack of association between gene sequence variations of platelet membrane receptors and aspirin responsiveness detected by the PFA-100 system in patients with coronary artery disease		173470		CDC	2006												
150363		stroke, lacunar	CARDIOVASCULAR	CARD	Brain Infarction|Genetic Predisposition to Disease	17	17q21.32	ITGB3	42686206	42745076		Oksala, N. K.  et al. 2006	17138951				Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2		Finland	CDC GDP info	3690	Hs.218040			Stroke    2006	Smoking and the Platelet Fibrinogen Receptor Glycoprotein IIb/IIIA PlA1/A2 Polymorphism Interact in the Risk of Lacunar Stroke and Midterm Survival		173470		CDC	2006	Our results indicate that prothrombotic genetic factors may interact with smoking by modifying the stroke phenotype and affecting midterm survival.		smoking (tobacco)									
150385	Y	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	20	20p	ITPA	3138055	3152506		Wessels, J. A.  et al. 2006	16947783				Inosine triphosphatase (nucleoside triphosphate pyrophosphatase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033453.2			CDC GDP info	3704	Hs.415299			Arthritis Rheum    2006    54(9)    2830-2839	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis		147520		CDC	2006	Polymorphisms in the AMPD1, ATIC, and ITPA genes are associated with good clinical response to MTX treatment.		methotrexate									
150428	N	atriventricular block long QT syndrome	CHEMDEPENDENCY	CHEM	Heart Block|Torsades de Pointes|Genetic Predisposition to Disease	21	21q22.12	KCNE2	34658192	34665310		Chevalier, P.  et al. 2007	17275752				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDP info	9992	Hs.551521			Heart Rhythm    2007    4(2)    170-4	Torsades de pointes complicating atrioventricular block		603796		CDC	2007	This study showed that complete AV block complicated by LQTS was associated with HERG mutations in 17% of cases. Further studies are needed to identify factors, genetic or environmental, which may be implicated in bradycardia-related abnormalities of ventricular repolarization.											
150458		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	17	17q23.1-q24.2	KCNJ2	65677270	65687778		Arnestad, M.  et al. 2007	17210839				Potassium inwardly-rectifying channel, subfamily J, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000891	Norwegian		CDC GDP info	3759	Hs.1547			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		600681		CDC	2007	We demonstrated that 9.											
150471		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	11	11p15.5	KCNQ1	2422796	2826916		Arnestad, M.  et al. 2007	17210839				potassium voltage-gated channel, KQT-like subfamily, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000218.2	Norwegian		CDC GDP info	3784	Hs.95162			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		607542		CDC	2007	We demonstrated that 9.											
150485		polyangiitis	CARDIOVASCULAR	CARD	Vasculitis|Genetic Predisposition to Disease	19	19q13.4	KIR2DL1	59927795	60001550		Miyashita, R.  et al. 2006	16508981				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014218			CDC GDP info	3802	Hs.512572			Arthritis Rheum    2006    54(3)    992-7	Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis		604936		CDC	2006	The decreased activation potential of NK and/or T cells associated with KIR/HLA genotypes may predispose to MPA, possibly through insufficient resistance against infections.											
150517	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.3	KIR2DL5B				Santin, I.  et al. 2007	17215859				Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001018081			CDC GDP info	553128	Hs.676464			Genes Immun    2007	Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4				CDC	2007												
150584	Y	bone density osteoarthritis osteoporosis	METABOLIC	MET	Osteoporosis|Osteoarthritis|Hip Fractures	13	13q12	KL	32488200	32538279		Riancho, J. A.  et al. 2006	16955217				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDP info	9365	Hs.524953			Biogerontology    2006	Association of the F352V variant of the Klotho gene with bone mineral density		604824		CDC	2006	the F352V Klotho polymorphism is associated with BMD in postmenopausal women, suggesting that Klotho gene variants influence skeletal aging.											
150639		lung cancer	CANCER	CAN		12	12p12.1	KRAS	25249446	25295130		Marks, J. L.  et al. 2007	17487277				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			PLoS ONE    2007    2    e426	Mutational Analysis of EGFR and Related Signaling Pathway Genes in Lung Adenocarcinomas Identifies a Novel Somatic Kinase Domain Mutation in FGFR4		190070		CDC	2007	 This study is one of the first comprehensive mutational analyses of major genes in a specific signaling pathway in a sizeable cohort of lung adenocarcinomas. Our results suggest the majority of gain-of-function mutations within kinase genes in the EGFR signaling pathway have already been identified. Our findings also implicate FGFR4 in the pathogenesis of a subset of lung adenocarcinomas.											
150670		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	4	4q23-q25	LEF1	109188149	109309027		Park, J. W.  et al. 2006	16415175				Lymphoid enhancer-binding factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128255			CDC GDP info	51176	Hs.555947			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		153245		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
150681	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	7	7q31.3	LEP	127668566	127684917		Aydin, F.  et al. 2007	17207170				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			J Eur Acad Dermatol Venereol    2007    21(1)    68-71	Lack of association between leptin G2548A gene polymorphism and Behcet's disease		164160		CDC	2007	In the present case-control study, we found no evidence of an association between the G-2548A variant of the leptin gene and BD among Turks. Further studies are needed to investigate serum leptin level to explain the mechanisms behind the lack of association between leptin G2548A gene polymorphism and BD.											
150687		bone density	METABOLIC	MET		1	1p31	LEPR	65658905	65875410		Crabbe, P.  et al. 2006	16645018				Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3			CDC GDP info	3953	Hs.23581			Eur J Endocrinol    2006    154(5)    707-14	Are serum leptin and the Gln223Arg polymorphism of the leptin receptor determinants of bone homeostasis in elderly men?		601007		CDC	2006	The findings suggest a possible role for leptin as determinant of bone homeostasis in elderly men, but with only modest impact independently from body composition and free estradiol.											
150716	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q33-q34	LIG4	107657792	107668717		Garcia-Closas, M.  et al. 2006	16485136				Ligase IV, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002312.3	Caucasian		CDC GDP info	3981	Hs.166091			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		601837		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
150728		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Santos, J. L.  et al. 2006	17080261				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	European		CDC GDP info	3990	Hs.188630			Eur J Nutr    2006	Genotype-by-nutrient interactions assessed in European obese women		151670		CDC	2006	Although the use of obese-only samples is theoretically a useful approach to detect interactions, few genotype-by-nutrient interactions have been suggested in obese European women after the analysis of candidate polymorphisms and the selected nutrient variables. The most remarkable multiplicative interaction found in this study refers to the combination of the hepatic lipase gene polymorphism -514 C > T and fibre intake.		diet									
150738	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus|Hypercholesterolemia|Acute Disease	18	18q21.1	LIPG	45342424	45373276		Shimizu, M.  et al. 2007	17526978	LIPG  584C/T			Lipase, endothelial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006033.2			CDC GDP info	9388	Hs.465102			Circ J    2007    71(6)    842-846	Endothelial Lipase Gene Polymorphism is Associated With Acute Myocardial Infarction, Independently of High-Density Lipoprotein-Cholesterol Levels		603684		CDC	2007	The 584C/T polymorphism of the EL gene was associated with AMI independently of HDL-C levels and thus may be involved in the pathogenesis of AMI.		smoking (tobacco)									
150760		hypertriglyceridemia	METABOLIC	MET	Hypertriglyceridemia|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Garenc, C.  et al. 2006	16630553				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1		Quebec	CDC GDP info	4023	Hs.180878			Biochem Biophys Res Commun    2006	Gene polymorphisms in the Quebec population		609708		CDC	2006												
150767	Y	nephropathy, diabetic	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 2	8	8p22	LPL	19841057	19869049		Ng, M.  et al. 2006	16813599				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Clin Genet    2006    70(1)    20-8	Association of lipoprotein lipase S447X, apolipoprotein E exon 4, and apoC3 -455T>C polymorphisms on the susceptibility to diabetic nephropathy		609708		CDC	2006												
150774		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Disease	8	8p22	LPL	19841057	19869049		Humphries, S. E.  et al. 2006	17130180				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			Clin Chem    2006	Candidate Gene Genotypes, Along with Conventional Risk Factor Assessment, Improve Estimation of Coronary Heart Disease Risk in Healthy UK Men		609708		CDC	2006	For a modest panel of selected genotypes, CHD-risk estimates incorporating CRFs and genotype-risk factor interactions were more effective than risk estimates that used CRFs alone.		blood pressure cholesterol smoking (tobacco) triglycerides									
150779	N	breast cancer	CANCER	CAN	Breast Diseases|Breast Neoplasms|Obesity|Genetic Predisposition to Disease|Body Weight	8	8p22	LPL	19841057	19869049		Gallicchio, L.  et al. 2007	17428620				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1	Caucasian		CDC GDP info	4023	Hs.180878			Cancer Detect Prev    2007	Body mass, polymorphisms in obesity-related genes, and the risk of developing breast cancer among women with benign breast disease		609708		CDC	2007	The findings suggest that specific polymorphisms in the PON1 and LEPR genes may play a role in progression of BBD to breast cancer among post-menopausal Caucasian women.		body mass									
150803	Y	osteoarthritis	METABOLIC	MET	Spondylarthritis|Osteoarthritis	11	11q13.4	LRP5	67836683	67973319		Urano, T.  et al. 2007	17202888				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDP info	4041	Hs.6347			Spine    2007    32(1)    25-9	Q89R polymorphism in the LDL receptor-related protein 5 gene is associated with spinal osteoarthritis in postmenopausal Japanese women		603506		CDC	2007	We suggest that a genetic variation at the LRP5 gene locus is associated with spinal osteoarthritis, in line with the involvement of the LRP5 gene in the bone and cartilage metabolism.											
150863			NORMALVARIATION	NV		6	6p21.3	LTA	31647718	31650077		Hamajima, N.  et al. 2002	12164325				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		153440		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
150869	Y	intima-media thickness	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetes Mellitus, Type 2	6	6p21.3	LTA	31647718	31650077		Liu, Y.  et al. 2006	16874159	LTA 252A/G			Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Eur J Cardiovasc Prev Rehabil    2006    13(4)    655-7	A functional polymorphism in the lymphotoxin-alpha gene is associated with carotid artery wall thickness		153440		CDC	2006	The LTA 252A/G polymorphism is moderately associated with sub-clinical atherosclerosis.											
150911		behavior traits	PSYCH	PSY		X	Xp11.4-p11.3	MAOA	43400352	43491012			16538181			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Psychiatr Genet    2006    16(2)    55-8	Monoamine oxidase A gene promoter polymorphism affects novelty seeking and reward dependence in healthy study participants		309850		CDC	2006												
150924		pain response	NEUROLOGICAL	NEUR	Acute Disease|Genetic Predisposition to Disease|Pain, Postoperative	X	Xp11.4-p11.3	MAOA	43400352	43491012		Kim, H.  et al. 2006	16848906				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Mol Pain    2006    2(1)    24	Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans		309850		CDC	2006	These results suggest that the previously reported associations between genetic polymorphisms in the monoamine neurotransmitter systems and the interindividual variability in pain responses cannot be replicated in a clinically relevant pain phenotype.											
150997	Y	tuberculosis	INFECTION	INF		18	18q23	MBP	72819776	72973762		Feng, F. M.  et al. 2006	17415991				Myelin basic protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025081.1			CDC GDP info	4155	Hs.551713			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(12)    1082-5	Study on mannose-binding protein gene polymorphisms and susceptibility to pulmonary tuberculosis		159430		CDC	2006	Total MBP and MBP-52 mutant genotypes might be associated with the susceptibility to pulmonary tuberculosis.											
151028	N	cognitive function head circumference social intelligence	PSYCH	PSY		8	8p23.1	MCPH1	6251528	6493434		Rushton, J. P.  et al. 2007	17251122				Microcephaly, primary autosomal recessive 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024596	Canadian;Caucasian		CDC GDP info	79648	Hs.656769			Biol Lett    2007	No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism		607117		CDC	2007												
151045		ovarian cancer peritoneal cancer	PHARMACOGENOMIC	PHARM	Peritoneal Neoplasms|Ovarian Neoplasms|Fallopian Tube Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Galic, V.  et al. 2006	17171684				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Genes Chromosomes Cancer    2006	Common polymorphisms in TP53 and MDM2 and the relationship to TP53 mutations and clinical outcomes in women with ovarian and peritoneal carcinomas		164785		CDC	2006			chemotherapy									
151066	N	heart disease, ischemic	CARDIOVASCULAR	CARD	Myocardial Ischemia	15	15q26	MEF2A	97923737	98071524		Horan, P. G.  et al. 2006	16872533				MADS box transcription enhancer factor 2, polypeptide A (myocyte enhancer factor 2A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005587.1	Irish		CDC GDP info	4205	Hs.268675			BMC Med Genet    2006    7(1)    65	Lack of MEF2A ??7aa mutation in Irish families with early onset ischaemic heart disease, a family based study		600660		CDC	2006	The Delta7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland.											
151069	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Familial Mediterranean Fever|Genetic Predisposition to Disease	16	16p13.3	MEFV	3232028	3246628		Giaglis, S.  et al. 2006	16614989				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1		Greece	CDC GDP info	4210	Hs.632221			Dig Dis Sci    2006    51(4)    687-92	Increased Frequency of Mutations in the Gene Responsible for Familial Mediterranean Fever (MEFV) in a Cohort of Patients with Ulcerative Colitis		608107		CDC	2006	the increased frequency of mutations of MEFV in UC patients, especially in those with episodic arthritis, suggests a possible modifying effect of MEFV in the disease process and its localization within the joint.											
151095		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	10	10q26	MGMT	131155455	131455358		Hu, Z.  et al. 2007	17285603				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Hum Mutat    2007	Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese		156569		CDC	2007			smoking (tobacco)									
151175	Y	lung cancer	CANCER	CAN		11	11q22.3	MMP1	102165860	102174104		Zhang, W.  et al. 2006	16767672				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(3)    313-5	Association of MMP1 -1607(1G>2G)single nucleotide polymorphism with susceptibility to lung cancer in Northwestern Chinese population of Han nationality.		120353		CDC	2006	The -1607(1G>2G) in promoter region of MMP1 is associated with susceptibility to lung cancer in Northwestern Chinese population of Han nationality. The genotype 2G/2G enhances the susceptibility to lung cancer.											
151190		chronic obstructive pulmonary disease/COPD emphysema	OTHER	OTH	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease|Emphysema	11	11q22.3	MMP1	102165860	102174104		Demeo, D. L.  et al. 2007	17363767				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			Am J Respir Crit Care Med    2007	Genetic Determinants of Emphysema Distribution in the National Emphysema Treatment Trial		120353		CDC	2007	Apical and basal emphysematous destruction appears to be influenced by different genes.											
151195		brain cancer	CANCER	CAN	Astrocytoma|Brain Neoplasms	11	11q22.3	MMP1	102165860	102174104		Lu, Z.  et al. 2007	17502998			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Neurooncol    2007	Polymorphisms in the matrix metalloproteinase-1, 3, and 9 promoters and susceptibility to adult astrocytoma in northern China		120353		CDC	2007												
151197	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104		Meijer, M. J.  et al. 2007	17589947				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		120353		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
151226	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	16	16q13-q21	MMP2	54070588	54098104		Bauters, C.  et al. 2007	17383306				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		120360		CDC	2007												
151240		atherosclerosis, carotid atherosclerosis, coronary	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Artery Disease	11	11q22.3	MMP3	102211737	102219552		Abilleira, S.  et al. 2006	16905683				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			J Med Genet    2006	The role of genetic variants of matrix metalloproteinases in coronary and carotid atherosclerosis		185250		CDC	2006												
151252	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Disease Progression	11	11q22.3	MMP3	102211737	102219552		Sun, T.  et al. 2006	17145822				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Clin Cancer Res    2006    12(23)    7009-17	Haplotypes in matrix metalloproteinase gene cluster on chromosome 11q22 contribute to the risk of lung cancer development and progression		185250		CDC	2006	The observed multiple cancer-associated genetic variants suggested that the MMP1-MMP3-MMP12 gene cluster plays important roles in lung cancer development and progression.											
151260		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Virtanen, I. M.  et al. 2007	17471097				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		185250		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
151264	Y	atherosclerosis, coronary unstable coronary syndrome	CARDIOVASCULAR	CARD	Angina, Unstable	11	11q22.3	MMP3	102211737	102219552		White, A. J.  et al. 2007	17543900	MMP3 6A			Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Cardiovasc Res    2007	Matrix metalloproteinase-3 and coronary remodelling		185250		CDC	2007	The MMP-3 6A allele promotes positive coronary remodelling, greater plaque burden, and increased susceptibility to unstable coronary syndromes in humans.											
151295		leukoaraiosis volume	NEUROLOGICAL	NEUR	Brain Ischemia|Genetic Predisposition to Disease|Leukoaraiosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Fornage, M.  et al. 2006	17024375				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	non-Hispanic		CDC GDP info	4318	Hs.297413			Hum Genet    2006	Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury		120361		CDC	2006												
151311	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	20	20q11.2-q13.1	MMP9	44070953	44078607		Bauters, C.  et al. 2007	17383306				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		120361		CDC	2007												
151321	Y	oral cancer	CANCER	CAN	Carcinoma, Squamous Cell|Mouth Neoplasms|Oral Submucous Fibrosis	20	20q11.2-q13.1	MMP9	44070953	44078607		Tu, H. F.  et al. 2007	17617834			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Oral Pathol Med    2007    36(7)    409-14	Functional -1562 C-to-T polymorphism in matrix metalloproteinase-9 (MMP-9) promoter is associated with the risk for oral squamous cell carcinoma in younger male areca users		120361		CDC	2007	Aberrant MMP-9 expression is closely related to tumor invasiveness and the prognosis of head and neck cancers. However, functional MMP-9-1562 C>T polymorphism is associated with OSCC risk only in younger areca chewers. The impact of aging or areca-related effect on this functional polymorphism should be elucidated. J Oral Pathol Med (2007).											
151326		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295			16543247				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		606989		CDC	2006												
151418		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	14	14q24	MTHFD1	63924845	63996474		Wessels, J. A.  et al. 2007	17530705				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDP info	4522	Hs.632340			Arthritis Rheum    2007    56(6)    1765-1775	A clinical pharmacogenetic model to predict the efficacy of methotrexate monotherapy in recent-onset rheumatoid arthritis		172460		CDC	2007	This study established a model for predicting the efficacy of MTX in patients with RA.		methotrexate									
151430		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	1	1p36.3	MTHFR	11768373	11788702			16447238				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Arthritis Rheum    2006    54(2)    607-12	Risk genotypes in folate-dependent enzymes and their association with methotrexate-related side effects in rheumatoid arthritis		607093		CDC	2006	These data suggest that a composite index of the cumulative risk genotypes in folate-dependent enzymes may be an effective means of profiling RA patients who develop side effects to MTX.											
151432	N	gastrointestinal toxicity	PHARMACOGENOMIC	PHARM	Carcinoma|Colorectal Neoplasms|Neutropenia|Fatigue|Diarrhea|Vomiting	1	1p36.3	MTHFR	11768373	11788702		Massacesi, C.  et al. 2006	16456808			promoter	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer    2006	Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan-based chemotherapy		607093		CDC	2006	In the current study, UGT1A1 promoter polymorphism was found to be predictive of the risk of diarrhea, emesis, and fatigue caused by chemotherapy with irinotecan and raltitrexed.		Irinotecan raltitrexed									
151438		chromosomal damage	OTHER	OTH	DNA Damage	1	1p36.3	MTHFR	11768373	11788702		Ishikawa, H.  et al. 2006	16580699				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Mutat Res    2006	A polymorphism of the methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers		607093		CDC	2006			smoking (tobacco)									
151452	N	pulmonary thromboembolism thromboembolism, venous	CARDIOVASCULAR	CARD	Pulmonary Embolism|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702			16881367				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Ter Arkh    2006    78(6)    70-6	C677T mutation in methylentetrahydrofolatereductase gene in patients with venous thromboses from the central region of Russia correlates with a high risk of pulmonary artery thromboembolism		607093		CDC	2006	LMFV and mutation G20210A in prothrombin gene are genetic risk factors of venous thrombosis.											
151472		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Yilmaz, S.  et al. 2006	17111197				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		607093		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
151486	Y	cholangiocarcinoma homocysteine	CANCER	CAN	Cholangiocarcinoma|Bile Duct Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Ko, K. H.  et al. 2006	17201138				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Anticancer Res    2006    26(6B)    4229-33	Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population		607093		CDC	2006	Our data suggest a role of MTHFR 677CC with the TSER 2R(+) genotype in increasing the risk of CCC. This study is the first to suggest an association between CCC and the polymorphisms of MTHFR and TSER.											
151560		Leber hereditary optic neuropathy	VISION	VIS	Optic Atrophy, Hereditary, Leber			MT-ND6				Shafa Shariat Panahi, M.  et al. 2006	17045122				mitochondrially encoded NADH dehydrogenase 6		Iranian		CDC GDP info	4541				Arch Med Res    2006    37(8)    1028-33	Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations		516006		CDC	2006	The analysis presented here provides evidence that there is an association between G11778A and G3460A with haplogroup J (including J1 and J2) and W, respectively.											
151646		cholesterol, HDL cholesterol, LDL insulin lipoprotein liver disease, nonalcoholic fatty	METABOLIC	MET	Fatty Liver|Atherosclerosis	4	4q24	MTTP	100715003	100763649		Gambino, R.  et al. 2007	17464986				microsomal triglyceride transfer protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000253.1			CDC GDP info	4547	Hs.195799			Hepatology    2007    45(5)    1097-1107	Polymorphism in microsomal triglyceride transfer protein		157147		CDC	2007	MTP -493 G/T polymorphism may impact NASH by modulating postprandial lipemia and lipoprotein metabolism; homozygous GG carriers have a more atherogenic postprandial lipid profile than the other genotypes, independently of adipokines and insulin resistance.											
151674	N	subacure sclerosing panencephalitis	NEUROLOGICAL	NEUR	Subacute Sclerosing Panencephalitis	21	21q22.3	MX1	41714311	41753008		Pipo-Deveza, J. R.  et al. 2006	17177148				Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2		Philippines	CDC GDP info	4599	Hs.517307			Neuropediatrics    2006    37(4)    222-8	Analysis of MxA, IL-4, and IRF-1 Genes in Filipino Patients with Subacute Sclerosing Panencephalitis		147150		CDC	2006	Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.											
151700		glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Acharya, M.  et al. 2006	16688110				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Indian	India	CDC GDP info	4653	Hs.436037			Mol Vis    2006    12    399-404	Primary role of CYP1B1 in Indian juvenile-onset POAG patients		601652		CDC	2006	Our observation suggests that on rare occasions CYP1B1 may be primarily responsible for JOAG by possible monogenic association, and this observation emphasizes the importance of screening for mutation in this gene of JOAG patients that are determined not to harbor mutations in previously characterized candidate genes and loci for POAG.											
151735		bladder cancer	PHARMACOGENOMIC	PHARM	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Fortuny, J.  et al. 2006	16985032				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1696-702	Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain		243400		CDC	2006	Regular use of nonaspirin NSAIDs was associated with a reduced risk of bladder cancer, which was not modified by polymorphisms in the NSAID-metabolizing gene CYP2C9. We found no evidence of an overall effect for paracetamol or aspirin use.		acetaminophen aspirin maetamizol nonsteroidal anti-inflammatory (NSAID) phenacetin									
151740	P		NORMALVARIATION	NV		8	8p22	NAT2	18293034	18303003		Bailliet, G.  et al. 2006	17194620				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Caucasian;Indian;Native American;Asian	Argentina|Paraguay	CDC GDP info	10	Hs.2			Mutat Res    2006	Allele and genotype frequencies of metabolic genes in Native Americans from Argentina and Paraguay		243400		CDC	2006												
151749		head and neck cancer	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Boccia, S.  et al. 2007	17611777				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			J Cancer Res Clin Oncol    2007	CYP1A1, CYP2E1, GSTM1, GSTT1, EPHX1 exons 3 and 4, and NAT2 polymorphisms, smoking, consumption of alcohol and fruit and vegetables and risk of head and neck cancer		243400		CDC	2007	Even in presence of high alcohol consumption or cigarette smoking, a high intake of fruit and vegetables might prevent the development of around one quarter of SCCHN cases.		alcohol diet smoking (tobacco)									
151767	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension	2	2p23	NCOA1	24640682	24847074		Peter, I.  et al. 2005	16269961				Nuclear receptor coactivator 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_147223			CDC GDP info	8648	Hs.644297			J Hypertens    2005    23(12)    2193-200	Variation in estrogen-related genes and cross-sectional and longitudinal blood pressure in the Framingham Heart Study		602691		CDC	2005	Although the underlying relations between genes involved in estrogen action and hypertension remain to be completely understood, our findings provide suggestive evidence of gender-specific contributions of estrogen-related genes to blood pressure variation. As no correction for multiple testing was performed in the analyses, we view these results as suggestive and not definitive. Further studies are warranted to confirm these results using a comprehensive set of polymorphisms in order to shed more light on the involvement of estrogen in blood pressure regulation.											
151771		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	12	12q24	NCOR2	123374913	123617963		Valdes, A. M.  et al. 2006	16453284				Nuclear receptor co-repressor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006312.2		Great Britain	CDC GDP info	9612	Hs.137510			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		600848		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
151803		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	4	4q24	NFKB1	103641517	103757507		Hoffjan, S.  et al. 2006	17117949				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	German		CDC GDP info	4790	Hs.431926			Int J Immunogenet    2006    33(6)    401-409	Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples		164011		CDC	2006												
151813	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	14	14q13	NFKBIA	34940467	34943695		Gao, J.  et al. 2007	17354114				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Scand J Gastroenterol    2007    42(3)    345-50	Association of NFKBIA polymorphism with colorectal cancer risk and prognosis in Swedish and Chinese populations		164008		CDC	2007	Chinese individuals >or=50 years of age carrying the AG genotype of NFKBIA may be at an increased risk of developing CRC, and the GG genotype of NFKBIA may be considered as a prognostic factor for Swedish CRC patients.											
151816	N	Crohn's disease	IMMUNE	IMM	Crohn Disease	14	14q13	NFKBIA	34940467	34943695		Hong, J.  et al. 2007	17593226				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1	Caucasian;German;New Zealand		CDC GDP info	4792	Hs.81328			J Gastroenterol Hepatol    2007	Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients		164008		CDC	2007	The NFKBIA 2758G/A and ICAM-1 K469E polymorphisms are not significant risk factors for CD in New Zealand; however, there is evidence that the latter polymorphism influences the age of diagnosis.											
151820		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	6	6p21.3	NFKBIL1	31623350	31634585		Lin, C. H.  et al. 2006	16644022				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005007.2			CDC GDP info	4795	Hs.2764			Immunol Lett    2006    105(2)    193-7	Inhibitors of kB-like gene polymorphisms in rheumatoid arthritis		601022		CDC	2006	The IkBL -62 T may be associated with the development of RA in Taiwan. The IkBL -421 8T may also be related to susceptibility to RA in HLA-DR4(+) individuals. This study shows that the estimated haplotype IkBL -421 8T/-62 T tends to be associated with susceptibility to RA in Taiwan.											
151854	Y	graft-versus-host disease	IMMUNE	IMM	Infection|Hematologic Neoplasms|Graft vs Host Disease|Acute Disease	16	16p12-q21	NOD2	49288550	49324488		Elmaagacli, A. H.  et al. 2006	16436969				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Transplantation    2006    81(2)    247-254	Mutations in Innate Immune System NOD2/CARD 15 and TLR-4 (Thr399Ile) Genes Influence the Risk for Severe Acute Graft-versus-Host Disease in Patients Who Underwent an Allogeneic Transplantation		605956		CDC	2006	These results suggest that NOD2 mutations have influence on the occurrence of acute GVHD after transplantation.											
151870	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	16	16p12-q21	NOD2	49288550	49324488		Kozlowski, P.  et al. 2006	16907704				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		605956		CDC	2006												
151877		Crohn's disease ulcerative colitis	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Hampe, J.  et al. 2006	17200669				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Nat Genet    2006	A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1		605956		CDC	2006												
151882		Crohn's disease	IMMUNE	IMM		16	16p12-q21	NOD2	49288550	49324488		Leshinsky-Silver, E.  et al. 2007	17333217				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	German;Israeli		CDC GDP info	64127	Hs.135201			Int J Colorectal Dis    2007	Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort		605956		CDC	2007	The contribution of population diversity to susceptibility genes for CD plays an important role in disease-associated variants and is important for better understanding of the pathologic mechanisms of the polymorphism.											
151889	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		de Ridder, L.  et al. 2007	17476680	3020insC in CARD15			caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2007	Genetic susceptibility has a more important role in pediatric-onset Crohn's disease than in adult-onset Crohn's disease		605956		CDC	2007	Polymorphisms 3020insC in CARD15 and SNP rs3792876 in SLC22A4/5 occurred statistically significantly more often in patients with pediatric-onset CD than in patients with adult-onset CD. Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort.(Inflamm Bowel Dis 2007).											
151894	N	aseptic abscesses Crohn's disease inflammatory bowel disease	IMMUNE	IMM		16	16p12-q21	NOD2	49288550	49324488		Andre, M. F.  et al. 2007	17570063				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	French		CDC GDP info	64127	Hs.135201			Dig Dis Sci    2007	Analysis of the NOD2/CARD15 Gene in Patients Affected with the Aseptic Abscesses Syndrome with or without Inflammatory Bowel Disease		605956		CDC	2007	These results suggest that the emergence of AA is not closely related to gene NOD2/CARD15. NOD2/CARD15 and other susceptibility genes might enhance the expression of AA as the result of a combination of polymorphisms.											
151910	Y	cardiac death QT interval	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Long QT Syndrome	1	1q23.3	NOS1AP	160306204	160604854		Aarnoudse, A. J.  et al. 2007	17576865				Nitric oxide synthase 1 (neuronal) adaptor protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY841899		Netherlands	CDC GDP info	9722	Hs.655000			Circulation    2007	Common NOS1AP Variants Are Associated With a Prolonged QTc Interval in the Rotterdam Study		605551		CDC	2007	Common variants in NOS1AP are strongly associated with QT-interval duration in an elderly population. Larger sample sizes are needed to confirm or exclude an effect on sudden cardiac death risk.											
151925		H. pylori infection stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Gastritis, Atrophic|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Goto, Y.  et al. 2006	17072962				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	Asian	Japan	CDC GDP info	4843	Hs.462525			World J Gastroenterol    2006    12(39)    6361-5	Inducible nitric oxide synthase polymorphism is associated with the increased risk of differentiated gastric cancer in a Japanese population		163730		CDC	2006	The iNOS C150T polymorphism is associated with the risk of H pylori-related gastric cancer in a Japanese population. This polymorphism may play an important role in increasing the risk of gastric cancer in Asian countires with the highest rates of gastric cancer.											
151938			CANCER	CAN	Neoplasms|Inflammation	17	17q11.2-q12	NOS2A	23107918	23151682		Huang, H. Y.  et al. 2007	17355643				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	African American;Caucasian		CDC GDP info	4843	Hs.462525			BMC Genet    2007    8(1)    7	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population		163730		CDC	2007	When estimating the size of samples needed for a study, particularly if a reference sample is used, one should take into consideration the size and ethnicity of the reference sample.											
151949		diabetes, type 2 hypertension	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			16427644				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Atherosclerosis    2006	Endothelial nitric oxide synthase haplotypes affect the susceptibility to hypertension in patients with type 2 diabetes mellitus		163729		CDC	2006												
151953		intracranial aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm	7	7q36	NOS3	150319079	150342609		Krex, D.  et al. 2006	16467782				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	European	Europe	CDC GDP info	4846	Hs.511603			J Cereb Blood Flow Metab    2006	The role of endothelial nitric oxide synthase (eNOS) genetic variants in European patients with intracranial aneurysms		163729		CDC	2006												
151982		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Diabetic Angiopathies	7	7q36	NOS3	150319079	150342609		Zhang, C.  et al. 2006	16804086				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian	United States	CDC GDP info	4846	Hs.511603			Diabetes    2006    55(7)    2140-7	Common variants of the endothelial nitric oxide synthase gene and the risk of coronary heart disease among u.s. Diabetic men		163729		CDC	2006	our data suggested that -786T>C, Glu298Asp, and an intron 8 polymorphism of the eNOS gene are potentially involved in the atherogenic pathway among U.S. diabetic men.											
151990	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Kim, I. J.  et al. 2006	16842840	NOS3   -786T>C and 4a4b			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian;Korean		CDC GDP info	4846	Hs.511603			Thromb Res    2006	Influence of endothelial nitric oxide synthase gene polymorphisms (-786T>C, 4a4b, 894G>T) in Korean patients with coronary artery disease		163729		CDC	2006	The present study demonstrates that polymorphisms of the eNOS -786T>C and 4a4b are associated with coronary artery disease with adjustments for cardiovascular risk factors in the Koreans.		smoking (tobacco)									
151994	Y	periodontal disease	IMMUNE	IMM	Periodontitis|Acute Disease|Chronic Disease|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Berdeli, A.  et al. 2006	16881803				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish		CDC GDP info	4846	Hs.511603			J Periodontol    2006    77(8)    1348-1354	Endothelial Nitric Oxide Synthase Glu298Asp Gene Polymorphism in Periodontal Diseases		163729		CDC	2006	The present study showed that eNOS Glu298Asp polymorphism is associated with BOP in GAgP patients.											
152006	N	fibromyalgia	OTHER	OTH	Fibromyalgia	7	7q36	NOS3	150319079	150342609		Alasehirli, B.  et al. 2006	16951945				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Turkish		CDC GDP info	4846	Hs.511603			Rheumatol Int    2006	No evidence for an association between the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene and fibromyalgia syndrome		163729		CDC	2006												
152031		brain aneurysm brain hemorrhage	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Aneurysm, Ruptured|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Krischek, B.  et al. 2006	17121133				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Japanese;Caucasian		CDC GDP info	4846	Hs.511603			J Neurosurg    2006    105(5)    717-22	Using endothelial nitric oxide synthase gene polymorphisms to identify intracranial aneurysms more prone to rupture in Japanese patients		163729		CDC	2006												
152078		schizophrenia	PSYCH	PSY	Schizophrenia	1	1p13-p11	NOTCH2	120255698	120413799		Passos Gregorio, S.  et al. 2006	16899352				Notch homolog 2 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024408	Brazilian;Danish	Brazil|Denmark	CDC GDP info	4853	Hs.487360			Schizophr Res    2006    88(1-3)    275-82	Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects		600275		CDC	2006												
152101		glomerulosclerosis, focal nephrotic syndrome	RENAL	REN	Glomerulosclerosis, Focal Segmental|Nephrotic Syndrome|Proteinuria	1	1q25-q31	NPHS2	177786298	177811691		Oleggini, R.  et al. 2006	16572591			promoter	Nephrosis 2, idiopathic, steroid-resistant (podocin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014625.1			CDC GDP info	7827	Hs.412710			Gene Expr    2006    13(1)    59-66	Rare functional variants of podocin (NPHS2) promoter in patients with nephrotic syndrome		604766		CDC	2006	three functional variants in NPHS2 promoter have been identified in a large cohort of patients with nephrotic syndrome and FSGS that have a frequency <1%. One of these (i.e., -52C>G) is associated with a poor clinical outcome and evolution to end-stage renal failure. USF1 was identified as the transcriptional factor regulating NPHS2 at this site. Even if not sufficient to cause FSGS per se, these variants could represent modifiers for severity and/or progression of the disease.											
152110		heart disease, ischemic	CARDIOVASCULAR	CARD		1	1p36.21	NPPA	11828362	11830422		Zhang, L.  et al. 2006	17219958				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1			CDC GDP info	4878	Hs.75640			J Huazhong Univ Sci Technolog Med Sci    2006    26(5)    528-30	ANP T2238C, C-664G gene polymorphism and coronary heart diseasein chinese population		108780		CDC	2006												
152113	N	glaucoma	VISION	VIS	Glaucoma	1	1p36.21	NPPA	11828362	11830422		Jeoung, J. W.  et al. 2007	17460430				Natriuretic peptide precursor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006172.1	Korean		CDC GDP info	4878	Hs.75640			Korean J Ophthalmol    2007    21(1)    33-8	Investigation of the Association between Normal-tension Glaucoma and Single Nucleotide Polymorphisms in Natriuretic Peptide Gene		108780		CDC	2007												
152117	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1p36.2	NPPB	11840107	11841579		Kosuge, K.  et al. 2007	17554401		16-repeat allele of the VNTR in the 5\-flanking region of NPPB		Natriuretic peptide precursor B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002521.2			CDC GDP info	4879	Hs.219140			Int J Med Sci    2007    4(3)    146-52	A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females		600295		CDC	2007	The 16-repeat allele of the VNTR in the 5\-flanking region of NPPB appears to be a useful genetic marker of EH in females.											
152124	N	asthma	IMMUNE	IMM		7	7p14.3	NPSR1	34664421	34884469		Zhu, H.  et al. 2007	17285544				Neuropeptide S receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY310326			CDC GDP info	387129	Hs.652373			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    48-51	Study on the association of single nucleotide polymorphisms and haplotypes of GPR154 gene with allergic asthma in Han nationality in Hubei Chinese population.				CDC	2007	The polymorphisms of SNP563704 and SNP522363 are not associated with allergic asthma in Han nationality in Hubei Chinese population.											
152149	Y	leukemia, myeloid	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	16	16q22.1	NQO1	68300804	68318034		Barragan, E.  et al. 2006	17118447				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Leuk Res    2006	The GST deletions and NQO1*2 polymorphism confers interindividual variability of response to treatment in patients with acute myeloid leukemia		125860		CDC	2006			chemotherapy									
152194			METABOLIC	MET	Pseudohypoaldosteronism	4	4q31.1	NR3C2	149219369	149582973		Balsamo, A.  et al. 2007	17287415				Nuclear receptor subfamily 3, group C, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000901.1	German;Italian		CDC GDP info	4306	Hs.163924			Eur J Endocrinol    2007    156(2)    249-56	Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1		600983		CDC	2007	Molecular analysis of the NR3C2 gene in PHA1 patients is warranted to detect novel mutations in order to clarify the underlying genetic cause, which may extend the insight into relevant functional regions of the hMR protein.											
152247		Hermansky-Pudlak syndrome	DEVELOPMENTAL	DEV	Albinism, Oculocutaneous|Hermanski-Pudlak Syndrome	15	15q11.2-q12	OCA2	25673627	26018061			16417222				Oculocutaneous albinism II (pink-eye dilution homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000275.1			CDC GDP info	4948	Hs.130937			J Invest Dermatol    2006    126(1)    85-90	Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico		203200		CDC	2006												
152256	Y	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342			16538639				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		601982		CDC	2006												
152295	N	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	1	1p36.1-p34.3	OPRD1	29011240	29062795		Gelernter, J.  et al. 2007	17374034				Opioid receptor, delta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000911.3			CDC GDP info	4985	Hs.372			Alcohol Clin Exp Res    2007    31(4)    555-63	Opioid Receptor Gene (OPRM1, OPRK1, and OPRD1) Variants and Response to Naltrexone Treatment for Alcohol Dependence		165195		CDC	2007	These results do not support association of the OPRM1 Asn40Asp polymorphism with NTX treatment response for AD.		naltrexone									
152334	N	glaucoma, primary open-angle	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	10	10p13	OPTN	13181454	13220282		Lopez-Martinez, F.  et al. 2007	17615537				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1			CDC GDP info	10133	Hs.332706			Mol Vis    2007    13    862-72	Role of MYOC and OPTN sequence variations in Spanish patients with Primary Open-Angle Glaucoma		602432		CDC	2007	Overall, our data show that in Spain a minority of adult-onset high-pressure POAG patients carry heterozygous disease-causing mutations in the MYOC gene and that OPTN is not involved in either OHT or POAG.											
152358	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	11	11q13.5-q14.1	P2RY2	72606991	72625043		Buscher, R.  et al. 2006	16495779				Purinergic receptor P2Y, G-protein coupled, 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176072			CDC GDP info	5029	Hs.339			Pharmacogenet Genomics    2006    16(3)    199-205	P2Y2 receptor polymorphisms and haplotypes in cystic fibrosis and their impact on Ca2+ influx		600041		CDC	2006	These data indicate that P2Y2 receptor gene haplotypes influence intracellular Ca2+-release. Such genetic variants might therefore represent modifiers of Cl- secretion or of response to P2Y2 agonist therapy in CF.											
152374	P		NORMALVARIATION	NV		12	12q22-q24.2	PAH	101756233	101835511		Song, F.  et al. 2007	17557229				Phenylalanine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000277.1	Chinese;European;Asian		CDC GDP info	5053	Hs.643451			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    241-6	The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese.		261600		CDC	2007	The mutation spectrum of PAH gene in Northern Chinese is similar to other Asian populations but significantly different from European populations.											
152421		glucose tolerance insulin lipids	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity	7	7q22.2	PBEF1	105675967	105712874		Jian, W. X.  et al. 2006	16922702				Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746			CDC GDP info	10135	Hs.489615			Diabet Med    2006    23(9)    967-73	The visfatin gene is associated with glucose and lipid metabolism in a Chinese population				CDC	2006	Serum visfatin levels may be related to visceral obesity in men, and the visfatin gene may account for variation of glucose and lipid parameters in Chinese subjects.											
152457	N	Addison's disease Graves' disease	IMMUNE	IMM	Graves Disease	2	2q37.3	PDCD1	242440710	242449731		Sutherland, A.  et al. 2007	17535987				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			J Clin Endocrinol Metab    2007	GENOMIC POLYMORPHISM AT THE INTERFERON-INDUCED HELICASE (IFIH1) LOCUS CONTRIBUTES TO GRAVES' DISEASE SUSCEPTIBILITY		600244		CDC	2007	We confirm a significant contribution of the Ala946Thr IFIH1 polymorphism to organ-specific autoimmune diseases, extending the range of conditions associated with this variant to include Graves\ disease. This polymorphism may also contribute to several other autoimmune disorders.											
152494		choline deficiency	METABOLIC	MET	Choline Deficiency	17	17p11.2	PEMT	17349601	17435719		da Costa, K. A.  et al. 2006	16816108				Phosphatidylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_148172.1			CDC GDP info	10400	Hs.287717			FASEB J    2006    20(9)    1336-44	Common genetic polymorphisms affect the human requirement for the nutrient choline		602391		CDC	2006												
152497		alcohol dependence drug dependence	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	8	8q23-q24	PENK	57516069	57521703		Xuei, X.  et al. 2007	17503481				Proenkephalin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006211.2	European		CDC GDP info	5179	Hs.339831			Am J Med Genet B Neuropsychiatr Genet    2007	The opioid system in alcohol and drug dependence		131330		CDC	2007												
152513		schizophrenia	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	16	16p13.3	PGP				Lin, Y. C.  et al. 2006	17038883				phosphoglycolate phosphatase				CDC GDP info	5240				Ther Drug Monit    2006    28(5)    668-672	The Relationship Between P-Glycoprotein (PGP) Polymorphisms and Response to Olanzapine Treatment in Schizophrenia		172280		CDC	2006			olanzapine									
152544		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation|Genetic Predisposition to Disease	4	4q25-q27	PITX2	111758028	111782566		Gudbjartsson, D. F. et al.  et al. 2007	17603472				paired-like homeodomain transcription factor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_153427.1	Chinese;European		CDC GDP info	5308	Hs.643588			Nature    2007	Variants conferring risk of atrial fibrillation on chromosome 4q25		601542		CDC	2007												
152554		inflammation oxidative stress	IMMUNE	IMM	Obesity|Inflammation	6	6p21.2-p12	PLA2G7	46780236	46811055		Diego, V. P.  et al. 2007	17160904				Phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005084.2			CDC GDP info	7941	Hs.584823			Am J Hum Genet    2007    80(1)    168-77	Genotype x adiposity interaction linkage analyses reveal a locus on chromosome 1 for lipoprotein-associated phospholipase A2, a marker of inflammation and oxidative stress		601690		CDC	2007												
152567		nephrolithiasis	METABOLIC	MET	Kidney Calculi|Genetic Predisposition to Disease	10	10q24	PLAU	75340895	75347261		Mittal, R. D.  et al. 2006	16509805				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDP info	5328	Hs.77274			J Endourol    2006    20(2)    157-60	Association of Urokinase Gene 3'-UTR Polymorphism with Calcium Oxalate Nephrolithiasis		191840		CDC	2006	The T allele of 3\ UTR of the urokinase gene may not be associated with a higher risk of stone formation.											
152582	Y	insulin	METABOLIC	MET	Insulin Resistance|Genetic Predisposition to Disease	15	15q26	PLIN	88008602	88023595		Corella, D.  et al. 2006	16732014	PLIN 11482G-->A/14995A-->T			Perilipin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002666.3	Chinese;Indian;Singapore;Asian		CDC GDP info	5346	Hs.103253			Diabetes Care    2006    29(6)    1313-9	Perilipin gene variation determines higher susceptibility to insulin resistance in asian women when consuming a high-saturated fat, low-carbohydrate diet		170290		CDC	2006	PLIN 11482G-->A/14995A-->T polymorphisms modulate the association between SFAs/carbohydrate in diet and insulin resistance in Asian women.		diet									
152649	N	cerebral infarct	CARDIOVASCULAR	CARD	Cerebral Infarction	7	7q21.3	PON1	94764923	94791780		Huang, Q.  et al. 2006	16808888	PON1   Q192R and L55M			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Neurol Res    2006    28(5)    549-54	Human serum paraoxonase gene polymorphisms, Q192R and L55M, are not associated with the risk of cerebral infarction in Chinese Han population		168820		CDC	2006												
152654	Y	body mass paraoxonase activity polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	7	7q21.3	PON1	94764923	94791780		San Millan, J. L.  et al. 2006	16880229	PON1  -108C/T			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Hum Reprod    2006	The PON1-108C/T polymorphism, and not the polycystic ovary syndrome, is an important determinant of reduced serum paraoxonase activity in premenopausal women		168820		CDC	2006	In premenopausal women from the Spanish population, the PON1-108C/T polymorphism, and not PCOS, is an important determinant of serum paraoxonase activity.											
152665		depression	PSYCH	PSY	Pain|Depressive Disorder	7	7q21.3	PON1	94764923	94791780		Lawlor, D. A.  et al. 2007	17183021				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			J Epidemiol Community Health    2007    61(1)    85-7	The association of the paraoxonase (PON1) Q192R polymorphism with depression in older women		168820		CDC	2007	may not be valid.											
152690		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	7	7q21.3	PON2	94872109	94902320		Burdon, K. P.  et al. 2005	16141008				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2	European		CDC GDP info	5445	Hs.530077			J Med Genet    2005    42(9)    720-4	Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study		602447		CDC	2005	There is evidence for modest, but significant, association of multiple single nucleotide polymorphisms in lipid genes with measures of subclinical CVD.											
152695		cholesterol cholesterol, LDL lipoprotein	METABOLIC	MET	Hyperlipoproteinemia Type II	7	7q21.3	PON2	94872109	94902320		Choumerianou, D. M.  et al. 2006	16776623				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Clin Chem Lab Med    2006    44(7)    799-806	Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia		602447		CDC	2006	These results suggest that apolipoprotein B levels in FH heterozygotes may be affected by several different genetic variants.											
152729	Y	colorectal cancer	PHARMACOGENOMIC	PHARM	Adenoma|Colorectal Neoplasms	6	6p21.2-p21.1	PPARD	35418312	35503933		Siezen, C. L.  et al. 2006	16344721				Peroxisome proliferative activated receptor, delta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3			CDC GDP info	5467	Hs.485196			Pharmacogenet Genomics    2006    16(1)    43-50	Protective effect of nonsteroidal anti-inflammatory drugs on colorectal adenomas is modified by a polymorphism in peroxisome proliferator-activated receptor delta		600409		CDC	2006	This study confirms the protective effect of NSAIDs and suggests a modulating effect of a SNP in the promoter of PPARdelta.		nonsteroidal anti-inflammatory (NSAID)									
152744	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	3	3p25	PPARG	12304348	12450855			16420563				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		United States	CDC GDP info	5468	Hs.162646			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		601487		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
152748		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855			16543247				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		601487		CDC	2006												
152751	N	leptin	METABOLIC	MET	Metabolic Syndrome X|Obesity	3	3p25	PPARG	12304348	12450855		Yanagisawa, Y.  et al. 2006	16622580				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Asian	Thailand	CDC GDP info	5468	Hs.162646			J Nutr Health Aging    2006    10(3)    176-82	Leptin resistance conferred by a combination of single nucleotide polymorphism and the adoption of a Western lifestyle in urban areas of Thailand		601487		CDC	2006	Urban women with del/del type of UCP2 exhibited significant leptin resistance. A combination of urbanization and UCP2 genotype were considered to be responsible.											
152762		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Weedon, M. N.  et al. 2006	17020404				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712		Great Britain	CDC GDP info	5468	Hs.162646			PLoS Med    2006    3(10)	Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction		601487		CDC	2006	Combining information from several known common risk polymorphisms allows the identification of population subgroups with markedly differing risks of developing type 2 diabetes compared to those obtained using single polymorphisms.											
152767	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	3	3p25	PPARG	12304348	12450855	not significant	Vogel, U.  et al. 2007	17307204			coding sequence	Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	317 basal cell carcinoma cases and 317 controls matched on age and gender	Denmark	CDC GDP info	5468	Hs.162646		Pro12Ala, results in less transcription activation of taget genes	Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs1801282	601487		CDC	2007	No association of the polymorphism to risk of basal cell carcinoma	nested within the Diet, Cancer and Health study	nonsteroidal anti-inflammatory (NSAID)								no interaction with NSAID	
152780		body mass diabetes, type 2 glucose tolerance insulin	METABOLIC	MET	Diabetes Mellitus, Type 2	4	4p15.1	PPARGC1A	23402741	23500798		Barroso, I.  et al. 2006	16435105				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDP info	10891	Hs.527078			Diabetologia    2006        1-5	Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes		604517		CDC	2006	odds ratio of 1.											
152786		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression	4	4p15.1	PPARGC1A	23402741	23500798		Andrulionyte, L.  et al. 2006	16804087				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Finnish		CDC GDP info	10891	Hs.527078			Diabetes    2006    55(7)    2148-52	Single Nucleotide Polymorphisms of PPARD in Combination With the Gly482Ser Substitution of PGC-1A and the Pro12Ala Substitution of PPARG2 Predict the Conversion From Impaired Glucose Tolerance to Type 2 Diabetes		604517		CDC	2006												
152808		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	17	17q12	PPP1R1B	35036704	35046404		Li, C. H.  et al. 2006	16750903				Protein phosphatase 1, regulatory (inhibitor) subunit 1B (dopamine and cAMP regulated phosphoprotein, DARPP-32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK123950			CDC GDP info	84152	Hs.286192			Schizophr Res    2006	Mutation analysis of DARPP-32 as a candidate gene for schizophrenia				CDC	2006												
152828	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Proteinuria|Albuminuria|Diabetes Mellitus, Type 2|Disease Progression	16	16p11.2	PRKCB1	23754822	24139431		Araki, S.  et al. 2006	16567829				Protein kinase C, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_212535.1			CDC GDP info	5579	Hs.460355			Diabetes Care    2006    29(4)    864-8	Polymorphisms of the Protein Kinase C-{beta} Gene (PRKCB1) Accelerate Kidney Disease in Type 2 Diabetes Without Overt Proteinuria		176970		CDC	2006	Our study indicates that PRKCB1 is a predictor for worsening of kidney disease in Japanese subjects with type 2 diabetes.											
152850	Y	epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	20	20pter-p12	PRNP	4614796	4630234		Labate, A.  et al. 2006	17092648				Prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000311.2			CDC GDP info	5621	Hs.472010			Neurosci Lett    2006	Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women		176640		CDC	2006												
152860		thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis	2	2q13-q14	PROC	127892486	127903288		Smith, N. L.  et al. 2007	17284699				Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2			CDC GDP info	5624	Hs.224698			JAMA    2007    297(5)    489-98	Association of genetic variations with nonfatal venous thrombosis in postmenopausal women		176860		CDC	2007	After accounting for multiple testing, 5 SNPs associated with VT risk were identified, 3 of which have not been previously reported.											
152868	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11.21	PRODH	17280294	17304066		Prata, D. P.  et al. 2006	17106420				Similar to proline dehydrogenase (oxidase) 1; tumor protein p53 inducible protein 6; p53 induced protein; proline oxidase 2; proline dehydrogenase (proline oxidase )	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016335.2	Scottish		CDC GDP info	5625	Hs.517352			Psychiatr Genet    2006    16(6)    229-230	Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes		606810		CDC	2006	we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.											
152883		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		14	14q24.3	PSEN1	72672931	72756862		Comings, D. E.  et al. 2000	11140838				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDP info	5663	Hs.592324			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		104311		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152895		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	6	6p21.3	PSMB8	32916471	32920690		Cunningham, S.  et al. 2005	16338279				Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004159.4			CDC GDP info	5696	Hs.180062			Clin Pharmacol Ther    2005    78(6)    635-46	Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis		177046		CDC	2005	Our work confirms and extends previous indications for a polygenic mechanism involved in bringing about responsiveness to recombinant IFN-beta. The identification of 2 genes active in the antigen processing and presentation cascade; that is, LMP7, coding for the proteasome subunit beta, and CTSS, coding for cathepsin S; as potential response modifiers may identify this pathway as being of particular relevance to phenotypic expression of response heterogeneity.		interferon									
152923	Y	myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Thrombosis	14	14q22	PTGER2	51850862	51865072		Hegener, H. H.  et al. 2006	16879213				Prostaglandin E receptor 2 (subtype EP2), 53kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000956	Caucasian		CDC GDP info	5732	Hs.2090			J Thromb Haemost    2006    4(8)    1718-22	Polymorphisms of prostaglandin-endoperoxide synthase 2 gene, and prostaglandin-E receptor 2 gene, C-reactive protein concentrations and risk of atherothrombosis		176804		CDC	2006	Although these prospective data implicate the potential involvement of prostaglandin-E receptor-2 gene variation in atherothrombosis, external validation of our findings is needed.											
152931		glaucoma	VISION	VIS	Glaucoma	1	1p31.1	PTGFR	78729315	78778974		Hoh, B. P.  et al. 2007	17582204				Prostaglandin F receptor (FP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039585			CDC GDP info	5737	Hs.654365			Kobe J Med Sci    2007    53(2)    49-52	A Novel Single Nucleotide Polymorphism, IVS2 -97A>T, in the Prostaglandin F2alpha Receptor Gene Was Identified among the Malaysian Patients with Glaucoma		600563		CDC	2007												
152936		platelet function	PHARMACOGENOMIC	PHARM	Coronary Artery Disease|Diabetes Mellitus	9	9q32-q33.3	PTGS1	124173049	124197802		Lepantalo, A.  et al. 2006	16493486				Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000962.2			CDC GDP info	5742	Hs.201978			Thromb Haemost    2006    95(2)    253-9	Polymorphisms of COX-1 and GPVI associate with the antiplatelet effect of aspirin in coronary artery disease patients		176805		CDC	2006			aspirin									
152960		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	1	1q25.2-q25.3	PTGS2	184907591	184916179		Zhang, W.  et al. 2006	16788380				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		600262		CDC	2006			cetuximab									
152976	Y	Alzheimer's disease	NEUROLOGICAL	NEUR		1	1q25.2-q25.3	PTGS2	184907591	184916179		Ma, S. L.  et al. 2007	17234302				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Neurobiol Aging    2007	Association of prostaglandin-endoperoxide synthase 2 (PTGS2) polymorphisms and Alzheimer's disease in Chinese		600262		CDC	2007												
152997	N	gastric atrophy H. pylori infection	INFECTION	INF	Helicobacter Infections|Stomach Neoplasms|Atrophy|Metaplasia	12	12q24	PTPN11	111340918	111432100		Goto, Y.  et al. 2006	17211494				Protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002834.3			CDC GDP info	5781	Hs.506852			Int J Med Sci    2006    4(1)    1-6	Grb2-associated binder 1 polymorphism was associated with the risk of Helicobactor pylori infection and gastric atrophy		176876		CDC	2006	This study represents that the Gab1 polymorphism was associated with the low risk of H.											
153013	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kawasaki, E.  et al. 2006	16470599				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese;Caucasian;European;Korean		CDC GDP info	26191	Hs.535276			Am J Med Genet A    2006	Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22)		600716		CDC	2006	the type 1 diabetes association with PTPN22 is confirmed, but it cannot be attributed solely to the +1858C > T variant. The promoter -1123G > C SNP is a more likely causative variant in PTPN22.											
153023		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Maier, L. M.  et al. 2006	16750991				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		600716		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
153027	N	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Balada, E.  et al. 2006	16870103				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Clin Exp Rheumatol    2006    24(3)    321-4	Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis		600716		CDC	2006	This particular single nucleotide polymorphism of PTPN22 does not seem to be associated with systemic sclerosis.											
153029	Y	diabetes, type 1 juvenile arthritis	IMMUNE	IMM	Arthritis, Juvenile Rheumatoid|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Cinek, O.  et al. 2006	17000021	PTPN22 codon 620			Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Caucasian;Asian		CDC GDP info	26191	Hs.535276			Diabetes Res Clin Pract    2006	No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations		600716		CDC	2006	In two different Caucasian populations, the Czechs and the Azeri, no independent contribution can be detected either of the -1123 promoter SNP or the +2740 3\-UTR SNP, and only the minor allele at PTPN22 codon 620 contributes to the risk of autoimmunity.											
153042		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Atherosclerosis|Autoimmune Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Pertovaara, M.  et al. 2007	17223967				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Finnish		CDC GDP info	26191	Hs.535276			Clin Exp Immunol    2007    147(2)    265-9	Autoimmunity and atherosclerosis		600716		CDC	2007												
153102		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	14	14q32	RAGE	101760589	101841284		Kankova, K.  et al. 2007	17345061				Renal tumor antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014226.1			CDC GDP info	5891	Hs.104119			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach		605762		CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
153127		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	10	10q11.2	RET	42892522	42945803		Lantieri, F.  et al. 2006	16441254				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3	Italian		CDC GDP info	5979	Hs.350321			Ann Hum Genet    2006    70(Pt 1)    12-26	Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles		164761		CDC	2006												
153164	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Rizig, M. A.  et al. 2006	16508931				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Am J Med Genet B Neuropsychiatr Genet    2006	Failure to confirm genetic association between schizophrenia and markers on chromosome 1q23.3 in the region of the gene encoding the regulator of G-protein signaling 4 protein (RGS4)		602516		CDC	2006												
153185	P		NORMALVARIATION	NV	Chromosome Deletion	1	1p36.11	RHD	25471567	25529523		Wu, J. J.  et al. 2006	17204201				Rhesus blood group, D antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016124.3			CDC GDP info	6007	Hs.643556			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2006    14(6)    1234-7	RHD 1227A Allele Frequency among Rh Negative Population and Random Population.		111680		CDC	2006												
153201		retinal dystrophy	VISION	VIS	Retinitis Pigmentosa|Retinal Diseases|Genetic Diseases, X-Linked	X	Xp11.4	RPGR	38013366	38071732		Pelletier, V.  et al. 2007	16969763				Retinitis pigmentosa GTPase regulator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000328.2	French		CDC GDP info	6103	Hs.61438			Hum Mutat    2007    28(1)    81-91	Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies		312610		CDC	2007												
153209	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility|Genetic Predisposition to Disease	21	21q22.3	RUNX1	35081967	36278917		Martinez, A.  et al. 2006	16652416				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			CDC GDP info	861	Hs.149261			J Rheumatol    2006    33(5)    842-6	Role of SLC22A4, SLC22A5, and RUNX1 Genes in Rheumatoid Arthritis		151385		CDC	2006	The SLC22A4 and RUNX1 polymorphisms described as etiological in the Japanese study did not show a significant role in RA susceptibility in our population.											
153215		psoriasis	IMMUNE	IMM	Tonsillitis|Psoriasis	6	6p21.3	RXRB	33269342	33276410		Vasku, V.  et al. 2007	17341859				Retinoid X receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021976.3			CDC GDP info	6257	Hs.388034			Dermatology    2007    214(2)    118-124	Three Retinoid X Receptor Gene Polymorphisms in Plaque Psoriasis and Psoriasis Guttata		180246		CDC	2007	Individual gene characteristics of patients with psoriasis improve the possibilities of pharmacotherapy using pharmacogenomic approaches which could be further stratified in future according to the subtypes of psoriasis.		family history									
153218		malignant hyperthermia	OTHER	OTH	Genetic Predisposition to Disease|Malignant Hyperthermia	19	19q13.1	RYR1	43616179	43770044		Galli, L.  et al. 2006	16835904				Ryanodine receptor 1 (skeletal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000540.1	Italian		CDC GDP info	6261	Hs.466664			Hum Mutat    2006    27(8)    830	Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia		180901		CDC	2006												
153233	N	cholesterol, HDL cholesterol, LDL	METABOLIC	MET		12	12q24.31	SCARB1	123828128	123914287		Bauerfeind, A.  et al. 2006	16770077				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3	Caucasian;German		CDC GDP info	949	Hs.298813			Hum Hered    2006    61(3)    123-131	Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations		601040		CDC	2006	This comparison showed that sets of common SNPs representing candidate regions reproducibly validate significant linkage disequilibrium association with a complex metabolic trait.											
153245		phenytoin	PHARMACOGENOMIC	PHARM		2	2q24.3	SCN1A	166553915	166638395		Tate, S. K.  et al. 2006	17001291				Sodium channel, voltage-gated, type I, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006920.3			CDC GDP info	6323	Hs.22654			Pharmacogenet Genomics    2006    16(10)    721-726	A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose		182389		CDC	2006	These results are not a replication of the original study.											
153250	Y	SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Arrhythmias, Cardiac|Sudden Infant Death|Genetic Predisposition to Disease	3	3p21	SCN5A	38564556	38666167		Plant, L. D.  et al. 2006	16453024				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1			CDC GDP info	6331	Hs.517898			J Clin Invest    2006    116(2)    430-435	A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y		600163		CDC	2006												
153271	N	cystic fibrosis	OTHER	OTH		16	16p12	SCNN1G	23101540	23135701		Viel, M.  et al. 2007	17560176				Sodium channel, nonvoltage-gated 1, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001039.2			CDC GDP info	6340	Hs.371727			J Cyst Fibros    2007	ENaCbeta and gamma genes as modifier genes in cystic fibrosis		600761		CDC	2007	Our results suggest that genetic variants in ENaCbeta and gamma genes do not modulate disease severity in the majority of CF patients.											
153299		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		Navarro-Hernandez, R. E.  et al. 2006	17014013				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			J Rheumatol    2006    33(10)    1968-72	sE-Selectin Expression and A561C Polymorphism in Relation to Rheumatoid Arthritis Clinical Activity		131210		CDC	2006	The sE-selectin, RF, and ESR, in addition to clinical indices, were associated with clinical activity in RA. We highlighted the presence of A/A genotype A561C polymorphism in our patients with RA.											
153315	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	1	1q22-q25	SELP	167824711	167866031		Ferrari, J.  et al. 2007	17204688				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDP info	6403	Hs.73800			Stroke    2007	The Thr715Pro Polymorphism of the P-Selectin Gene Is Not Associated With Ischemic Stroke Risk		173610		CDC	2007												
153326	Y	selenium	PHARMACOGENOMIC	PHARM	Disease Susceptibility	5	5q31	SEPP1	42835738	42861755		Meplan, C.  et al. 2007	17536041				Selenoprotein P, plasma, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005410.2	Chinese;Caucasian;Asian		CDC GDP info	6414	Hs.275775			FASEB J    2007	Genetic polymorphisms in the human selenoprotein P gene determine the response of selenoprotein markers to selenium supplementation in a gender-specific manner (the SELGEN study)		601484		CDC	2007	the data reveal two common functional SNPs within the human SePP gene that may predict behavior of biomarkers of Se status and response to supplementation and thus susceptibility to disease.		selenium									
153344		thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q23-q25.1	SERPINC1	172139564	172153096		Corral, J.  et al. 2007	17244682				Serpin peptidase inhibitor, clade C (antithrombin), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000488.2			CDC GDP info	462	Hs.75599			Blood    2007	Antithrombin Cambridge II (A384S)				CDC	2007												
153414	Y	multiorgan failure septic shock mortality	INFECTION	INF		7	7q21.3-q22	SERPINE1	100557104	100568431		Garcia-Segarra, G.  et al. 2007	17541549				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Intensive Care Med    2007	Increased mortality in septic shock with the 4G/4G genotype of plasminogen activator inhibitor 1 in patients of white descent		173360		CDC	2007	Homozygosity for 4G of the PAI-1 gene confers an increase in the risk of mortality in adult patients with septic shock due to a greater organ failure.											
153428	N	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPA1	81040717	81043975		Jack, D. L.  et al. 2006	17083016				surfactant, pulmonary-associated protein A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005411.3			CDC GDP info	6435	Hs.523084			Clin Infect Dis    2006    43(11)    1426-33	Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease		178630		CDC	2006	Gene polymorphism resulting in the substitution of glutamine with lysine at residue 223 in the carbohydrate recognition domain of SP-A2 increases susceptibility to meningococcal disease, as well as the risk of death.											
153454		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		17	17p13-p12	SHBG	7472098	7477395		Comings, D. E.  et al. 2000	11140838				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDP info	6462	Hs.632235			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		182205		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
153466	Y	esophageal cancer gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581			16536979				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Ai Zheng    2006    25(3)    281-6	Correlations between Serine Hydroxymethyltransferase1 C1420T Polymorphisms and Susceptibilities to Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma.		182144		CDC	2006	SHMT1 1420C/T genotype could significantly reduce susceptibilities to ESCC and GCA among individuals from high risk areas in Hebei Province of China.		smoking (tobacco)									
153482	Y	tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|Genetic Predisposition to Disease	2	2q35	SLC11A1	218954995	218969861	0.03	Taype, C. A.  et al. 2006	16461017				Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000578.3	Peruvian	Peru	CDC GDP info	6556	Hs.591607			Infect Genet Evol    2006	Association between SLC11A1 polymorphisms and susceptibility to different clinical forms of tuberculosis in the Peruvian population.		600266		CDC	2006	These results support association between SLC11A1 and TB, particularly to the common pulmonary form.	Cases: 507 pulmonary TB and 123 extrapulmonary TB. Controls: 513 healthy controls.										
153538		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q23.3	SLC22A4	131658043	131707798		Fisher, S. A.  et al. 2006	16835882				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2	European		CDC GDP info	6583	Hs.310591			Hum Mutat    2006    27(8)    778-785	Direct or indirect association in a complex disease		604190		CDC	2006												
153542		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	5	5q23.3	SLC22A4	131658043	131707798		Magyari, L.  et al. 2007	17387389				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			Pathol Oncol Res    2007    13(1)    53-6	Prevalence of SLC22A4 1672T and SLC22A5 -207C Combination Defined TC Haplotype in Hungarian Ulcerative Colitis Patients		604190		CDC	2007												
153546		metformin pharmacokinetics	PHARMACOGENOMIC	PHARM		5	5q23.3	SLC22A4	131658043	131707798		Shu, Y.  et al. 2007	17609683				Solute carrier family 22 (organic cation transporter), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003059.2			CDC GDP info	6583	Hs.310591			Clin Pharmacol Ther    2007	Effect of Genetic Variation in the Organic Cation Transporter 1, OCT1, on Metformin Pharmacokinetics		604190		CDC	2007												
153553		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Susceptibility|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Martinez, A.  et al. 2006	16652416				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			J Rheumatol    2006    33(5)    842-6	Role of SLC22A4, SLC22A5, and RUNX1 Genes in Rheumatoid Arthritis		603377		CDC	2006	The SLC22A4 and RUNX1 polymorphisms described as etiological in the Japanese study did not show a significant role in RA susceptibility in our population.											
153555	Y	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	SLC22A5	131733342	131759202		Babusukumar, U.  et al. 2006	16771961				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2	Caucasian		CDC GDP info	6584	Hs.443572			Am J Gastroenterol    2006    101(6)    1354-61	Contribution of OCTN Variants Within the IBD5 Locus to Pediatric Onset Crohn's Disease		603377		CDC	2006	We confirm the association of the OCTN variants (SLC22A4 and SLC22A5) in pediatric onset CD as seen in adult CD cohorts.											
153561		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	5	5q31	SLC22A5	131733342	131759202		Magyari, L.  et al. 2007	17387389				Solute carrier family 22 (organic cation transporter), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003060.2			CDC GDP info	6584	Hs.443572			Pathol Oncol Res    2007    13(1)    53-6	Prevalence of SLC22A4 1672T and SLC22A5 -207C Combination Defined TC Haplotype in Hungarian Ulcerative Colitis Patients		603377		CDC	2007												
153565		preterm delivery	REPRODUCTION	REP	Premature Birth	5	5q31.2-q31.3	SLC23A1	138730787	138746900			16357110				Solute carrier family 23 (nucleobase transporters), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC050261			CDC GDP info	9963	Hs.643467			Am J Epidemiol    2005	Genetic Variation in the Sodium-dependent Vitamin C Transporters, SLC23A1, and SLC23A2 and Risk for Preterm Delivery		603790		CDC	2005												
153577	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q13.1	SLC2A10	44771685	44798392		Lin, W. H.  et al. 2006	16586067				Solute carrier family 2 (facilitated glucose transporter), member 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030777.3			CDC GDP info	81031	Hs.305971			Diabetologia    2006	Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population		606145		CDC	2006	 Our results suggest that SLC2A10 genetic variations do not appear to be major determinants for type 2 diabetes susceptibility in the Taiwanese population.											
153579		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Coronary Disease|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Obesity	3	3q26.1-q26.2	SLC2A2	172196830	172227462		Vionnet, N.  et al. 2006	17065357				Solute carrier family 2 (facilitated glucose transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000340.1			CDC GDP info	6514	Hs.167584			Diabetes    2006    55(11)    3166-74	Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations		138160		CDC	2006												
153596		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	17	17q21-q22	SLC4A1	39682565	39700993		Elliott, L.  et al. 2007	17408468				Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000342.1			CDC GDP info	6521	Hs.443948			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		109270		CDC	2007												
153604		pain response	NEUROLOGICAL	NEUR	Acute Disease|Genetic Predisposition to Disease|Pain, Postoperative	16	16q12.2	SLC6A2	54247522	54295201		Kim, H.  et al. 2006	16848906				Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Mol Pain    2006    2(1)    24	Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans		163970		CDC	2006	These results suggest that the previously reported associations between genetic polymorphisms in the monoamine neurotransmitter systems and the interindividual variability in pain responses cannot be replicated in a clinically relevant pain phenotype.											
153607	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	16	16q12.2	SLC6A2	54247522	54295201		Kim, C. H.  et al. 2006	17146058	SLC6A2		promoter	Solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001043.2			CDC GDP info	6530	Hs.78036			Proc Natl Acad Sci U S A    2006	A polymorphism in the norepinephrine transporter gene alters promoter activity and is associated with attention-deficit hyperactivity disorder		163970		CDC	2006												
153622		depression	PHARMACOGENOMIC	PHARM	Bipolar Disorder|Depressive Disorder	5	5p15.3	SLC6A3	1445908	1498543		Kirchheiner, J.  et al. 2006	16702979				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Pharmacogenomics J    2006	A 40-basepair VNTR polymorphism in the dopamine transporter (DAT1) gene and the rapid response to antidepressant treatment		126455		CDC	2006	the dopamine transporter VNTR polymorphism influenced rapid response to antidepressant therapy.		antidepressants									
153627	Y	schizophrenia	PSYCH	PSY	Schizophrenia	5	5p15.3	SLC6A3	1445908	1498543		Stober, G.  et al. 2006	16783497				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Eur Arch Psychiatry Clin Neurosci    2006	Family-based study of markers at the 5'-flanking region of the human dopamine transporter gene reveals potential association with schizophrenic psychoses		126455		CDC	2006	our present findings support the genetic involvement of distinct hSLC6A3 genotypes in schizophrenia.											
153642		attention deficit hyperactivity disorder	PSYCH	PSY	Prenatal Exposure Delayed Effects|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Neuman, R. J.  et al. 2006	17157268				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Biol Psychiatry    2006	Prenatal Smoking Exposure and Dopaminergic Genotypes Interact to Cause a Severe ADHD Subtype		126455		CDC	2006	Results indicate that smoking during pregnancy is associated with specific subtypes of ADHD in genetically susceptible children.		alcohol, maternal smoking (tobacco), maternal									
153648		sexual behavior	PSYCH	PSY		5	5p15.3	SLC6A3	1445908	1498543		Guo, G.  et al. 2007	17245411				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Eur J Hum Genet    2007	Dopamine transporter, gender, and number of sexual partners among young adults		126455		CDC	2007												
153662	N	smoking behavior	PHARMACOGENOMIC	PHARM		5	5p15.3	SLC6A3	1445908	1498543		Ton, T. G.  et al. 2007	17466074				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		126455		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
153682		panic disorder	PHARMACOGENOMIC	PHARM	Panic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Perna, G.  et al. 2005	16034444			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2005    30(12)    2230-5	Antipanic efficacy of paroxetine and polymorphism within the promoter of the serotonin transporter gene		182138		CDC	2005	paroxetine efficacy in PD seems to be related to allelic variation within the promoter of the 5-HTT gene in female subjects. This gender effect might be related to the genomic effects of sex hormones. Understanding the interaction between gender and genes coding for structures target of psychotropic drugs could help to individualize the pharmacological treatment of PD.		paroxetine									
153696	Y	depression depressive disorder, major	PSYCH	PSY	Mood Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Gonda, X.  et al. 2006	16464506				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			J Affect Disord    2006	The 5HTTLPR polymorphism of the serotonin transporter gene is associated with affective temperaments as measured by TEMPS-A		182138		CDC	2006	Our results are in good agreement with earlier studies reporting a strong association between the s allele of the 5HTTLPR and major as well as subthreshold forms of depression, and extend this association to the normative temperament level.											
153702		depressive disorder, major	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Genetic Predisposition to Disease|Depressive Disorder, Major	17	17q11.1-q12	SLC6A4	25549031	25586831			16525076			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			J Neuropsychiatry Clin Neurosci    2006    18(1)    96-9	Serotonin transporter gene promoter region polymorphism associated with poststroke major depression		182138		CDC	2006												
153704	N	alcohol effects	CHEMDEPENDENCY	CHEM	Alcoholism	17	17q11.1-q12	SLC6A4	25549031	25586831			16536124				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Stud Alcohol    2006    67(1)    5-13	Preliminary data on the association among the serotonin transporter polymorphism, subjective alcohol experiences, and drinking behavior		182138		CDC	2006	Although SERT genotype was not reliably associated with ad lib drinking behavior, the results suggest that individuals with the long-long (LL) genotype may develop acute tolerance to alcohol effects more rapidly than heterozygotes or individuals homozygous for the short SERT allele.											
153756	Y	conduct disorder	PSYCH	PSY	Genetic Predisposition to Disease|Conduct Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Sakai, J. T.  et al. 2006	16972235				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2006	Case-control and within-family tests for an association between conduct disorder and 5HTTLPR		182138		CDC	2006												
153765	Y	suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Wasserman, D.  et al. 2007	17029913				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Eur Neuropsychopharmacol    2007    17(3)    230-3	Association of the serotonin transporter promotor polymorphism with suicide attempters with a high medical damage		182138		CDC	2007												
153772		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Samochowiec, J.  et al. 2006	17079080				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Polish		CDC GDP info	6532	Hs.591192			Neurosci Lett    2006	Family-based and case-control study of DRD2, DAT, 5HTT, COMT genes polymorphisms in alcohol dependence		182138		CDC	2006												
153784	Y	obsessive compulsive disorder	PSYCH	PSY	Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia, E.  et al. 2006	17174018			Intron	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Spanish;Caucasian		CDC GDP info	6532	Hs.591192			Prog Neuropsychopharmacol Biol Psychiatry    2006	Association between obsessive-compulsive disorder and a variable number of tandem repeats polymorphism in intron 2 of the serotonin transporter gene		182138		CDC	2006	Our results indicate a possible association between the Stin2.											
153793		suicide	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Gibb, B. E.  et al. 2006	17250473				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Suicide Life Threat Behav    2006    36(6)    687-93	Serotonin Transporter (5-HTTLPR) Genotype, Childhood Abuse, and Suicide Attempts in Adult Psychiatric Inpatients		182138		CDC	2006			emotional abuse physical abuse sexual abuse									
153801		depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Kishida, I.  et al. 2007	17299512				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neuropsychopharmacology    2007	Monoamine Metabolites Level in CSF is Related to the 5-HTT Gene Polymorphism in Treatment-Resistant Depression		182138		CDC	2007												
153813		depression	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cervilla, J. A.  et al. 2007	17387319				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Mol Psychiatry    2007	The risk for depression conferred by stressful life events is modified by variation at the serotonin transporter 5HTTLPR genotype		182138		CDC	2007			family history threatening life events									
153823	N	depression	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Chipman, P.  et al. 2007	17450557				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	No interaction between the serotonin transporter polymorphism (5-HTTLPR) and childhood adversity or recent stressful life events on symptoms of depression		182138		CDC	2007			childhood adversity stress									
153834		epilepsy, temporal lobe	NEUROLOGICAL	NEUR	Epilepsy, Temporal Lobe|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Manna, I.  et al. 2007	17548158				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Neurosci Lett    2007	Serotonin transporter gene (5-Htt)		182138		CDC	2007												
153838		bipolar disorder suicide	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Neves, F. S.  et al. 2007	17579356				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	Is the 5-HTTLPR polymorphism associated with bipolar disorder or with suicidal behavior of bipolar disorder patients?		182138		CDC	2007												
153846		conduct disorder	PSYCH	PSY	Mental Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Sakai, J. T.  et al. 2007	17621163				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			Psychiatr Genet    2007    17(4)    207-214	Case-control and within-family tests for association between 5HTTLPR and conduct problems in a longitudinal adolescent sample		182138		CDC	2007	did not support an association between 5HTTLPR and conduct problems or delinquency.											
153848	N	depression	PHARMACOGENOMIC	PHARM		17	17q11.1-q12	SLC6A4	25549031	25586831		Lavretsky, H.  et al. 2007	17621383				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Int J Geriatr Psychiatry    2007	The effects of the dopamine and serotonin transporter polymorphisms on clinical features and treatment response in geriatric depression		182138		CDC	2007	DAT VNTR 10/10 genotype may be associated with an endophenotype of late-life depression with executive dysfunction that responds preferentially to methylphenidate added to a selective serotonin reuptake inhibitor, which warrants replication in a large sample. Copyright (c) 2007 John Wiley & Sons, Ltd.		citalopram									
153854		melphalan pharmacokinetics melphalan side effects	PHARMACOGENOMIC	PHARM	Lymphoma, Non-Hodgkin|Multiple Myeloma	16	16q24.3	SLC7A5	86421129	86460601		Kuhne, A.  et al. 2007	17558306				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF104032			CDC GDP info	8140	Hs.513797			Pharmacogenet Genomics    2007    17(7)    505-17	Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan		600182		CDC	2007	The study confirmed that these transporter genes are highly conserved, particularly in the coding sequences.											
153856		cystinuria	METABOLIC	MET	Cystinuria	19	19q13.1	SLC7A9	38013261	38052512		Shigeta, Y.  et al. 2006	16609684				Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014270.3	Spanish;Japanese;European;Italian;Jewish		CDC GDP info	11136	Hs.408567			Kidney Int    2006    69(7)    1198-206	A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter		604144		CDC	2006												
153965	Y	schizophrenia tardive dyskinesia	PSYCH	PSY	Movement Disorders|Genetic Predisposition to Disease|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Hitzeroth, A.  et al. 2007	17291655				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Turkish		CDC GDP info	6648	Hs.487046			Prog Neuropsychopharmacol Biol Psychiatry    2007	Association between the MnSOD Ala-9Val polymorphism and development of schizophrenia and abnormal involuntary movements in the Xhosa population		147460		CDC	2007												
154008	P	pancreatitis, chronic	IMMUNE	IMM	Pancreatitis, Chronic|Genetic Predisposition to Disease	5	5q32	SPINK1	147184338	147191453		Kalinin, V. N.  et al. 2006	16981266				Serine peptidase inhibitor, Kazal type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003122.2	German		CDC GDP info	6690	Hs.407856			World J Gastroenterol    2006    12(33)    5352-6	Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients		167790		CDC	2006	We found in 3 (2%) of 172 chronic pancreatitis patients an IVS3 + 2 T > C SPINK1 gene mutation and a base substitution 5\UTR-215 G > A in the same gene copy. Most probably the 5\UTR-215 G > A represents a rare polymorphism and not a mutation as previously concluded. Haplotype analysis suggests a common origin of the IVS3 + 2 T > C mutation in these patients.											
154023		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Golledge, J.  et al. 2006	17170369				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDP info	6696	Hs.313			Arterioscler Thromb Vasc Biol    2006	Association Between Osteopontin and Human Abdominal Aortic Aneurysm		166490		CDC	2006	Serum and tissue concentrations of OPN are associated with human AAA.											
154040	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	2	2p23	SRD5A2	31603159	31659544		Berndt, S. I.  et al. 2007	17220347				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	non-Hispanic		CDC GDP info	6716	Hs.458345			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		607306		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
154048	Y	schizophrenia	PSYCH	PSY	Schizophrenia, Disorganized|Schizophrenia, Paranoid	17	17p13	SRR	2153997	2175303		Morita, Y.  et al. 2006	17067558	SRR IVS1a+465C			Serine racemase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023169			CDC GDP info	63826	Hs.461954			Biol Psychiatry    2006	A Genetic Variant of the Serine Racemase Gene Is Associated with Schizophrenia		606477		CDC	2006	The IVS1a+465C allele of the SRR gene, which reduces expression of the gene, is a risk factor for schizophrenia, especially the paranoid subtype.											
154056	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	2	2q32.2-q32.3	STAT4	191602550	191724539		Li, Y.  et al. 2007	17532201	STAT-4 T90089C			Signal transducer and activator of transcription 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003151.2			CDC GDP info	6775	Hs.80642			Respir Med    2007	Polymorphisms of STAT-6, STAT-4 and IFN-gamma genes and the risk of asthma in Chinese population		600558		CDC	2007	Our findings suggest that STAT-4 T90089C and IFN-gamma T874A polymorphisms might be the genetic factors for the risk of asthma in the Chinese population. In addition, the significant interactions among STAT-6 G2964A, STAT-4 T90089C and IFN-gamma T874A may increase an individual\s susceptibility and contribute to the pathogenesis of asthma.											
154061		eczema food allergy IgE	IMMUNE	IMM	Liver Diseases|Dermatitis, Atopic|Food Hypersensitivity	12	12q13	STAT6	55775459	55791428		Negoro, T.  et al. 2006	17121586				Signal transducer and activator of transcription 6, interleukin-4 induced	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003153.3			CDC GDP info	6778	Hs.524518			Pediatr Allergy Immunol    2006    17(8)    583-90	Influence of SNPs in cytokine-related genes on the severity of food allergy and atopic eczema in children		601512		CDC	2006												
154067	Y	Peutz-Jeghers syndrome	DEVELOPMENTAL	DEV		19	19p13.3	STK11	1156797	1179434		Yi, X.  et al. 2007	17344591			promoter	Serine/threonine kinase 11 (Peutz-Jeghers syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000455.4			CDC GDP info	6794	Hs.515005			Zhong Nan Da Xue Xue Bao Yi Xue Ban    2007    32(1)    74-7	Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome.		602216		CDC	2007	G/T(-1275) in STK11 promoter region is a new SNP. The genotype of this new SNP may relate to the risk of developing Peutz-Jeghers syndrome (PJS) deserve further research.											
154075	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Boccia, S.  et al. 2006	16575574				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			J Cancer Res Clin Oncol    2006	A case-control study investigating the role of sulfotransferase 1A1 polymorphism in head and neck cancer		171150		CDC	2006	These preliminary findings show for the first time that the SULT1A1 His (213) allele is a possible risk factor for head and neck cancer development.											
154082		lung cancer	CANCER	CAN	Lung Neoplasms	16	16p12.1	SULT1A1	28524416	28542367		Pachouri, S. S.  et al. 2006	17074589				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2	Indian		CDC GDP info	6817	Hs.567342			Cancer Genet Cytogenet    2006    171(1)    39-43	Impact of polymorphism in sulfotransferase gene on the risk of lung cancer		171150		CDC	2006			smoking (tobacco)									
154087		benzene toxicity	PHARMACOGENOMIC	PHARM	Occupational Diseases|Genetic Predisposition to Disease	16	16p12.1	SULT1A1	28524416	28542367		Gu, S. Y.  et al. 2007	17479406				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2		China	CDC GDP info	6817	Hs.567342			J Toxicol Environ Health A    2007    70(11)    916-24	Genetic polymorphisms in CYP1A1, CYP2D6, UGT1A6, UGT1A7, and SULT1A1 genes and correlation with benzene exposure in a Chinese occupational population		171150		CDC	2007	our data suggested that individuals with CYP1A1 c.											
154089	Y	brain cancer	CANCER	CAN		16	16p12.1	SULT1A1	28524416	28542367		Bardakci, F.  et al. 2007	17605044				Sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001055.2			CDC GDP info	6817	Hs.567342			J Cancer Res Clin Oncol    2007	Sulfotransferase 1A1 (SULT1A1) polymorphism and susceptibility to primary brain tumors		171150		CDC	2007	Our findings have suggested that there was a significant association between brain tumor and SULT1A1*2 allele (A allele that is also known as His allele) and this allele is an important risk factor in the development of meningiomal brain tumors.											
154130	Y	microangiopathy, thrombotic	CARDIOVASCULAR	CARD	Hemolytic-Uremic Syndrome|Vascular Diseases|Thrombosis|Purpura, Thrombotic Thrombocytopenic|Genetic Predisposition to Disease	X	Xq13.1	TAF1	70502838	70666979		Sucker, C.  et al. 2007	17327284				TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004606.2			CDC GDP info	6872	Hs.158560			Nephrol Dial Transplant    2007	Association of genotypes of thrombin-activatable fibrinolysis inhibitors with thrombotic microangiopathies--a pilot study		313650		CDC	2007	The results of our pilot study indicate that the GG genotype of the C1542G polymorphism of TAFI displays risk factors for the manifestation of thrombotic microangiopathies.											
154169		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	12	12q22-qter	TCF1	119900931	119924697		Hwang, J. S.  et al. 2006	16632067				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Japanese;Chinese;Caucasian;Korean		CDC GDP info	6927	Hs.567343			Diabetes Res Clin Pract    2006	Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients		142410		CDC	2006	the mutations in the HNF-1alpha gene and GCK account for a small proportion, about 5% and 2.5%, respectively, in Korean MODY and early onset type 2 patients. The majority of MODY cases in the Korean population are due to defects in unknown genes.											
154178		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Autoimmune Diseases	12	12q22-qter	TCF1	119900931	119924697		Sahu, R. P.  et al. 2007	17440016				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Indian		CDC GDP info	6927	Hs.567343			J Clin Endocrinol Metab    2007	Etiology of early-onset type 2 diabetes in Indians		142410		CDC	2007	Despite a significant proportion of young Indian patients with T2DM having normal weight, islet autoimmunity, A3243G mitochondrial, and HNF1alpha gene mutations were infrequent.											
154189	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		van Vliet-Ostaptchouk, J. V.  et al. 2006	17031610				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			Diabetologia    2006	Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort		602228		CDC	2006	 Our data strongly confirm that variants of the TCF7L2 gene contribute to the risk of type 2 diabetes. The population-attributable risk from this factor in the Dutch type 2 diabetes population is 10%.											
154206	N	birth weight glucose small for gestational age	METABOLIC	MET	Insulin Resistance|Obesity|Birth Weight	10	10q25.3	TCF7L2	114700200	114916060		Cauchi, S.  et al. 2007	17593304				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Caucasian;French		CDC GDP info	6934	Hs.588935			BMC Med Genet    2007    8(1)    37	TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population		602228		CDC	2007	The TCF7L2 rs7903146 variant neither increases the risk for SGA nor modulates birth weight and young adulthood glucose homeostasis in French Caucasian subjects born with SGA.											
154240	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12q13	TFCP2	49774874	49853184		Bertram, L.  et al. 2005	16272261				Transcription factor CP2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005653.3			CDC GDP info	7024	Hs.48849			J Med Genet    2005    42(11)    857-62	Further evidence for LBP-1c/CP2/LSF association in Alzheimer's disease families		189889		CDC	2005	This is the first study to examine LBP-1c/CP2/LSF in AD families, and the fifth to independently show significant association. While our results support a role of this gene in AD pathogenesis, the direction of the effect remains uncertain, possibly indicating linkage disequilibrium with another variant nearby.											
154253		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2p13	TGFA	70527924	70634438		Beaty, T. H.  et al. 2006	16953426				Transforming growth factor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003236.1	Singapore		CDC GDP info	7039	Hs.170009			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		190170		CDC	2006												
154279		angiopathy, cerebral amyloid dementia, vascular neocortical plaques	CARDIOVASCULAR	CARD	Cerebral Amyloid Angiopathy|Dementia	19	19q13.2	TGFB1	46528490	46551656		Peila, R.  et al. 2006	16904244				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3			CDC GDP info	7040	Hs.155218			Neurobiol Aging    2006	A TGF-beta1 polymorphism association with dementia and neuropathologies		190180		CDC	2006												
154357		bipolar disorder schizoaffective disorder schizophrenia	PSYCH	PSY	Chronobiology Disorders|Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders|Schizophrenia	12	12q12-q13	TIMELESS	55097173	55129433		Mansour, H. A.  et al. 2006	16507006				Timeless homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003920.2	Caucasian		CDC GDP info	8914	Hs.118631			Genes Brain Behav    2006    5(2)    150-7	Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia		603887		CDC	2006												
154364	Y	stomach cancer	CANCER	CAN	Stomach Neoplasms|Neoplasm, Residual	17	17q25	TIMP2	74360653	74433067		Wu, C. Y.  et al. 2007	17236757				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDP info	7077	Hs.104839			Eur J Cancer    2007	Clinicopathological significance of MMP-2 and TIMP-2 genotypes in gastric cancer		188825		CDC	2007	Our results suggest MMP-2 and TIMP-2 genotypes play a crucial role in gastric cancer invasion, but not with development of gastric cancer.											
154367	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	17	17q25	TIMP2	74360653	74433067		Meijer, M. J.  et al. 2007	17589947				TIMP metallopeptidase inhibitor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003255.4			CDC GDP info	7077	Hs.104839			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		188825		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
154393		bacterermia malaria, plasmodium falciparum pneumonia tuberculosis	INFECTION	INF	Bacteremia|Tuberculosis|Pneumococcal Infections|Malaria|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Khor, C. C.  et al. 2007	17322885				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Nat Genet    2007	A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis		603028		CDC	2007												
154405	Y	Stevens-Johnson syndrome	IMMUNE	IMM	Stevens-Johnson Syndrome|Eye Diseases|Epidermal Necrolysis, Toxic|Genetic Predisposition to Disease	4	4q35	TLR3	187227302	187243246		Ueta, M.  et al. 2007	17314152				Toll-like receptor 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003265.2			CDC GDP info	7098	Hs.543332			Br J Ophthalmol    2007	Toll like receptor 3 gene polymorphisms in Japanese patients with Stevens-Johnson syndrome		603029		CDC	2007	The results suggest that polymorphisms in the TLR3 gene could be associated with SJS/TEN in the Japanese population.											
154417		Candida albicans infection	INFECTION	INF	Fungemia|Candidiasis|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Van der Graaf, C. A.  et al. 2006	16613760				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Eur Cytokine Netw    2006    17(1)    29-34	Toll-like receptor 4 Asp299Gly/Thr399Ile polymorphisms are a risk factor for Candida bloodstream infection		603030		CDC	2006												
154425	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	9	9q32-q33	TLR4	119506430	119519587		Lalouschek, W.  et al. 2006	16879054				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Clin Chem Lab Med    2006    44(8)    918-23	Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events		603030		CDC	2006	In our study none of the investigated polymorphisms of the inflammatory system was associated with the risk of acute cerebrovascular events before the age of 60 years.		febrile episode									
154427	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Acute Disease|Chronic Disease|Disease Progression	9	9q32-q33	TLR4	119506430	119519587		Veltkamp, M.  et al. 2006	16879239	TLR4  Asp299Gly			Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	German		CDC GDP info	7099	Hs.174312			Clin Exp Immunol    2006    145(2)    215-8	Toll-like receptor (TLR) 4 polymorphism Asp299Gly is not associated with disease course in Dutch sarcoidosis patients		603030		CDC	2006												
154443	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	9	9q32-q33	TLR4	119506430	119519587		Santin, I.  et al. 2006	17130564				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann N Y Acad Sci    2006    1079    268-72	No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population		603030		CDC	2006												
154450		HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection		603030		CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154485	N	pouchitis	OTHER	OTH	Pouchitis|Chronic Disease|Recurrence	3	3p21.3	TLR9	52230137	52248223		Lammers, K.  et al. 2005	16437636				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Caucasian;Italian		CDC GDP info	54106	Hs.87968			World J Gastroenterol    2005    11(46)    7323-9	Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis		605474		CDC	2005	There is no evidence that the SNPs predispose to the need for IPAA surgery.											
154491	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Bochud, P. Y.  et al. 2007	17301562				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			AIDS    2007    21(4)    441-446	Polymorphisms in Toll-like receptor 9 influence the clinical course of HIV-1 infection		605474		CDC	2007	Rapid progression of HIV-1 infection was associated with TLR9 polymorphisms. Because of its potential implications for intervention strategies and vaccine developments, additional epidemiological and experimental studies are needed to confirm this association.											
154514	Y	Crohn's disease inflammatory bowel disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091			16534418	TNF-857			Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Great Britain	CDC GDP info	7124	Hs.241570			Inflamm Bowel Dis    2006    12(3)    178-184	Genetic Variants in TNF-alpha But Not DLG5 Are Associated with Inflammatory Bowel Disease in a Large United Kingdom Cohort		191160		CDC	2006	We have confirmed an association between the TNF-857 promoter polymorphism and IBD in a large independent UK dataset but were unable to replicate an association at the previously reported loci within DLG5. This may reflect heterogeneity between the populations, a smaller effect size than originally predicted, or possibly a false-positive result in the original study. Further fine mapping studies of the TNF promoter region and studies assessing functional consequences of TNF promoter polymorphisms are now required in IBD.											
154522		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	6	6p21.3	TNF	31651328	31654091		Leung, W. K.  et al. 2006	16635219				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		191160		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
154527		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	6	6p21.3	TNF	31651328	31654091		Quintero-Ramos, A.  et al. 2006	16711541				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Gac Med Mex    2006    142(2)    95-8	Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion		191160		CDC	2006												
154540		leukopenia neutropenia stomatitis thrombocytopenia	PHARMACOGENOMIC	PHARM	Neoplasms	6	6p21.3	TNF	31651328	31654091		Sakamoto, K.  et al. 2006	16820919			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Oncol Rep    2006    16(2)    381-7	Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy		191160		CDC	2006			5-flurouracil cisplatin									
154555	Y	brucellosis	INFECTION	INF	Brucellosis	6	6p21.3	TNF	31651328	31654091		Davoudi, S.  et al. 2006	16984280				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Int J Immunogenet    2006    33(5)    355-359	Th-1 cytokines gene polymorphism in human brucellosis		191160		CDC	2006												
154561	N	IgE, cord blood	IMMUNE	IMM		6	6p21.3	TNF	31651328	31654091		Wen, H. J.  et al. 2006	17014622				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Pediatr Allergy Immunol    2006    17(7)    489-94	Association between cord blood IgE and genetic polymorphisms of interleukin-4, the beta-subunit of the high-affinity receptor for IgE, lymphotoxin-alpha, and tumor Necrosis factor-alpha		191160		CDC	2006												
154623	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Meijer, M. J.  et al. 2007	17589947				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		191160		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
154638		obesity	METABOLIC	MET	Bone Resorption|Obesity|Genetic Predisposition to Disease	18	18q22.1	TNFRSF11A	58143527	58204484		Zhao, L. J.  et al. 2006	16960694				Tumor necrosis factor receptor superfamily, member 11a, NFKB activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003839.2	Caucasian		CDC GDP info	8792	Hs.204044			Hum Genet    2006	Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-kappaB) gene in a large Caucasian sample		603499		CDC	2006	for the first time, our results suggest that RANK is a novel candidate for determination of obesity.											
154648	N	bone density fracture risk	METABOLIC	MET	Osteoporosis|Fractures, Spontaneous	8	8q24	TNFRSF11B	120004976	120033492		Ueland, T.  et al. 2006	16949901				Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002546.2			CDC GDP info	4982	Hs.81791			Bone    2006	No associations between OPG gene polymorphisms or serum levels and measures of osteoporosis in elderly Australian women		602643		CDC	2006												
154691		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	19	19q13.4	TNNI3	60354949	60360858		Morita, H.  et al. 2006	16754800				Troponin I type 3 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000363.3		United States	CDC GDP info	7137	Hs.631588			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		191044		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
154696	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	2	2q35-q36	TNP1	217432426	217433027		Aoki, V. W.  et al. 2006	16989827				Transition protein 1 (during histone to protamine replacement)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003284.2		Utah	CDC GDP info	7141	Hs.3017			Fertil Steril    2006	Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility		190231		CDC	2006	A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.											
154708	Y	dystonia	NEUROLOGICAL	NEUR	Dystonic Disorders|Genetic Predisposition to Disease	9	9q34	TOR1B	131605252	131613381		Kamm, C.  et al. 2006	17130424				Torsin family 1, member B (torsin B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014506	German;Icelandic		CDC GDP info	27348	Hs.654672			Neurology    2006    67(10)    1857-9	Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia		608050		CDC	2006												
154723	Y	cervical cancer	CANCER	CAN	Papillomavirus Infections|Adenocarcinoma|Cervical Intraepithelial Neoplasia|Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642		Hou, M. M.  et al. 2006	16761419				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Sichuan Da Xue Xue Bao Yi Xue Ban    2006    37(3)    404-7	P53 codon 72 polymorphism in cervical cancers and its correlation with HPV16,18E6		191170		CDC	2006	p53 Arg homozygosity could serve as a risk indicator for the tumorigenesis of cervix.											
154799	Y	birth weight	METABOLIC	MET	Birth Weight	7	7q34-q35	TPK1	143779966	144164079		Fradin, D.  et al. 2007	17295612			Intron	Thiamin pyrophosphokinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022445	European		CDC GDP info	27010	Hs.660232			Ann Hum Genet    2007	Three Common Intronic Variants in the Maternal and Fetal Thiamine Pyrophosphokinase Gene (TPK1) are Associated with Birth Weight		606370		CDC	2007												
154824		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	11	11p12	TRAF6	36467298	36488398		Lappalainen, M.  et al. 2006	16635910				TNF receptor-associated factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145803			CDC GDP info	7189	Hs.591983			Scand J Gastroenterol    2006    41(4)    424-9	Screening of tumor necrosis factor receptor-associated factor 6 as a candidate gene for inflammatory bowel disease		602355		CDC	2006	Our study tends to exclude a good positional and functional candidate gene, TRAF6, as an IBD predisposing gene and lends support to the idea that the function of TRAF6 is important enough not to permit structural alterations of this mediator.											
154916		fat reduction obesity	METABOLIC	MET	Obesity	11	11q13	UCP2	73363363	73371537		Yoon, Y.  et al. 2007	17544366				Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2			CDC GDP info	7351	Hs.80658			Biochem Biophys Res Commun    2007	Effects of genetic polymorphisms of UCP2 and UCP3 on very low calorie diet-induced body fat reduction in Korean female subjects		601693		CDC	2007			diet									
154923		insulin obesity	METABOLIC	MET		11	11q13	UCP3	73388984	73397778		Wang, T. N.  et al. 2007	17502873				Uncoupling protein 3 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003356.2			CDC GDP info	7352	Hs.101337			Int J Obes (Lond)    2007	UCP2 A55V variant is associated with obesity and related phenotypes in an aboriginal community in Taiwan		602044		CDC	2007												
154942		irinotecan toxicity	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Stomach Neoplasms|Diarrhea	2	2q37	UGT1A1	234191029	234346690		de Jong, F. A.  et al. 2006	16951398				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Oncologist    2006    11(8)    944-54	Prophylaxis of Irinotecan-Induced Diarrhea with Neomycin and Potential Role for UGT1A1*28 Genotype Screening		191740		CDC	2006	Our results do not suggest a major role for neomycin as prophylaxis for irinotecan-induced delayed-type diarrhea. It is suggested that the UGT1A1*28 genotype status could be used as a screening tool for a priori prevention of irinotecan-induced delayed-type diarrhea.		neomycin									
154958		bilirubin	HEMATOLOGICAL	HEM	Glucosephosphate Dehydrogenase Deficiency|Hyperbilirubinemia, Neonatal|Jaundice	2	2q37	UGT1A1	234191029	234346690		Kaplan, M.  et al. 2007	17426648			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Pediatr Res    2007	(TA)n UGT 1A1 Promoter Polymorphism		191740		CDC	2007												
154964	N	irinotecan toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Neoplasm Recurrence, Local	2	2q37	UGT1A1	234191029	234346690		Stewart, C. F.  et al. 2007	17577039			promoter	UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Clin Oncol    2007    25(18)    2594-600	UGT1A1 promoter genotype correlates with SN-38 pharmacokinetics, but not severe toxicity in patients receiving low-dose irinotecan		191740		CDC	2007	Severe toxicity was not increased in pediatric patients with the 7/7 genotype when treated with a low-dose protracted schedule of irinotecan. Therefore, UGT1A1 genotyping is not a useful prognostic indicator of severe toxicity for patients treated with this irinotecan dosage and schedule.											
154997	N	atrasentan phamacokinetics	PHARMACOGENOMIC	PHARM		4	4q13	UGT2B4	70380472	70396205		Katz, D. A.  et al. 2006	16513443				UDP glucuronosyltransferase 2 family, polypeptide B4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021139.1			CDC GDP info	7363	Hs.285887			Clin Pharmacol Ther    2006    79(3)    186-196	Organic anion transporting polypeptide 1B1 activity classified by SLCO1B1 genotype influences atrasentan pharmacokinetics		600067		CDC	2006	OATP1B1 is a meaningful factor for atrasentan disposition.											
155006		carvedilol phamacokinetics	PHARMACOGENOMIC	PHARM	Heart Failure|Chronic Disease	4	4q13	UGT2B7	69996813	70013293		Takekuma, Y.  et al. 2007	17329852				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			Biol Pharm Bull    2007    30(3)    537-42	Evaluation of effects of polymorphism for metabolic enzymes on pharmacokinetics of carvedilol by population pharmacokinetic analysis		600068		CDC	2007												
155050	P	prostate cancer	CANCER	CAN	Prostatic Neoplasms	12	12q12-q14	VDR	46521586	46585081		Veronique-Baudin, J.  et al. 2006	16821341				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Prog Urol    2006    16(3)    303-10	Case-control study of the genes of receptors of the androgens of vitamin-D and of 5-alphareductase in a population of Afro-Caribbean population with prostate cancer		601769		CDC	2006	This study demonstrated results that differ from those observed for other populations with a similar ethnic origin.											
155131		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Aquilante, C. L.  et al. 2006	16580898				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006    79(4)    291-302	Influence of coagulation factor, vitamin K epoxide reductase complex subunit 1, and cytochrome P450 2C9 gene polymorphisms on warfarin dose requirements		608547		CDC	2006	Polymorphisms in warfarin drug target and metabolizing enzyme genes, in addition to nongenetic factors, were important determinants of warfarin dose requirements.											
155146	Y	phenprocoumon requirements	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Schalekamp, T.  et al. 2006	17192772				Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Clin Pharmacol Ther    2006	VKORC1 and CYP2C9 Genotypes and Phenprocoumon Anticoagulation Status		608547		CDC	2006	the VKORC1 genotype modifies the effect of the CYP2C9 genotype on phenprocoumon dose requirements.			VKORC1		VKORC1						
155169		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	2	2q35	WNT6	219432789	219447198		Beaty, T. H.  et al. 2006	16953426				Wingless-type MMTV integration site family, member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY009401	Singapore		CDC GDP info	7475	Hs.29764			Hum Genet    2006	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations		604663		CDC	2006												
155183		DNA damage	OTHER	OTH	DNA Damage	9	9q22.3	XPA	99477011	99499460		Dusinska, M.  et al. 2006	16613913				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Mutagenesis    2006	Possible involvement of XPA in repair of oxidative DNA damage deduced from analysis of damage, repair and genotype in a human population study		278700		CDC	2006			asbestos glass fiber stonewool									
155216	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.2	XRCC1	48739303	48771555			16406883				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Urol    2006    175(1)    108-12	Association Between Polymorphisms in the DNA Repair Genes XRCC1 and APE1, and the Risk of Prostate Cancer in White and Black Americans		194360		CDC	2006	Our results suggest that inherited variability in DNA repair capacity, as reflected by polymorphisms in XRCC1 and APE1, is a risk factor for prostate cancer.											
155240	Y	radiation sensitivity	OTHER	OTH	Radiation Injuries|Chromosome Aberrations|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Wang, L. Q.  et al. 2006	16978516				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(8)    479-82	Relationship between polymorphisms of DNA repair gene XRCC1 and susceptibility to radiation injury		194360		CDC	2006	The mutation of XRCC1 C26304T is related with the susceptibility to radiation injury.											
155257		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Martinez-Balibrea, E.  et al. 2007	17273745				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Oncol Rep    2007    17(3)    637-45	Combined analysis of genetic polymorphisms in thymidylate synthase, uridine diphosphate glucoronosyltransferase and X-ray cross complementing factor 1 genes as a prognostic factor in advanced colorectal cancer patients treated with 5-fluorouracil plus oxa		194360		CDC	2007			5-flurouracil Irinotecan oxaliplatin									
155278		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	7	7q36.1	XRCC2	151974519	152004183		Moreno, V.  et al. 2006	16609022				X-ray repair complementing defective repair in Chinese hamster cells 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR749256			CDC GDP info	7516	Hs.129727			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		600375		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
155313		colorectal cancer	PHARMACOGENOMIC	PHARM		14	14q32.3	XRCC3	103233706	103251549		Ruzzo, A.  et al. 2007	17549067				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		600675		CDC	2007			5-flurouracil Irinotecan									
155339		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21-q22	ZWINT	57787204	57791040		Morgan, A. R.  et al. 2007	17373700				ZW10 interactor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR624092			CDC GDP info	11130	Hs.591363			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
125018	N	Atherosclerotic Vascular Disease	CARDIOVASCULAR	CARD	Arteriosclerosis|Thrombosis|Hemochromatosis	6	6p21.3	HFE	26195487	26205036	n	Franco RF 1998	9753040	845G-->A. Cys282Tyr. 187 C-->G. and His63Asp			Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			TJB	3077	Hs.233325			British journal of haematology. 1998 Sep;102(5):1172-5			235200	3074	1	1998		Case:265; Control:272										
124688		breast cancer	CANCER	CAN	Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Krajinovic, M.  et al. 2001	11291049				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Canadian	Canada|France	CDC GDPinfo	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2001 Apr;92(2):220-5	Genetic susceptibility to breast cancer in French-Canadians: Role of carcinogen-metabolizingenzymes and gene-environment interactions		134660	26060	2	2001	These data suggest that CYP1A1*4, NAT1 and NAT2 variants are involved in the susceptibility to breast carcinoma by modifying the impact of exogenous and/or endogenous exposures.	Case:149 women with breast carcinoma:French-Canadian;Control:207 healthy women:French-Canadian										
124681		oral cancer; leukoplakia	CANCER	CAN	Mouth Neoplasms|Leukoplakia	11	11q13	GSTP1	67107861	67110699		Sikdar, N.  et al. 2004	14735473				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Indian	India	CDC GDPinfo	2950	Hs.523836			International journal of cancer. Journal international du cancer. 2004 Mar;109(1):95-101	Glutathione S-transferase M3 (A/A) genotype as a risk factor for oral cancer and leukoplakia among Indian tobacco smokers		134660	24545	2	2004	It may be suggested that polymorphisms in GSTP1, GSTM1, GSTM3 and GSTT1 genes regulate risk of cancer and leukoplakia differentially among different tobacco habituals.	Case:109/256 leukoplakia (n=109) and oral cancer (n=256):patients;Control:259:controls	smoking (tobacco)									
124245		schizophrenia	PSYCH	PSY	Schizophrenia	9	9q34.3	GRIN1	139153429	139183029		Martucci, L.  et al. 2003	12707933				Glutamate receptor, ionotropic, N-methyl D-aspartate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000832			CDC GDPinfo	2902	Hs.558334			American journal of medical genetics Part B, Neuropsychiatric genetics. 2003 May;119(1):24-7	N-methyl-D-aspartate receptor NR1 subunit gene (GRIN1) in schizophrenia: TDT and case-controlanalyses.		138249	16994	2	2003		Case:91 schizophrenic patients;Control:91 eithnically matched controls										
124048	N	mood disorders	PSYCH	PSY	Mood Disorders|Bipolar Disorder|Depressive Disorder	12	12p13	GNB3	6819378	6826818		Lin CN et al. 2001	11586049				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			KGB	2784	Hs.631657			Neuropsychobiology. 2001 ;44(3):118-21	Association analysis of a functional G protein beta3 subunit gene polymorphism (C825T) in mood disorders.		139130	2875	1	2001	The results reveal that it is not likely that the C825T polymorphism in the GNB3 gene subunit is involved in mood disorder pathogenesis. Further studies of the associations between other G protein subunits and mood disorder are needed to fully elaborate the involvement of this protein in mood disorders.	Case:144 mood disorder patients;Control:153 nromal controls										
123996	Y	hearing loss/deafness	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114			16379178				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3		Malaysia	CDC GDPinfo	2706	Hs.591234			The Medical journal of Malaysia. 2005 Aug;60(3):269-74	Congenital deafness: high prevalence of a V37Imutation in the GJB2 gene among deaf school children in Alor Setar		121011	16943	2	2005	Interestingly, V37I mutation in the GJB2 gene have been reported as polymorphism in Western countries, however in our country it behaved as a potentially disease-causing missense mutation, causing childhood deafness as it was not found in the normal control.											
123952		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	1	1p35.1	GJA4	35031185	35033935		Iwai, N.  et al. 2004	15167446				Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2	Japanese	Japan	CDC GDPinfo	2701	Hs.296310			Journal of hypertension. 2004 Jun;22(6):1119-26	Genetic analysis of 22 candidate genes for hypertension in the Japanese population		121012	27719	2	2004	 Although the present results should be replicated in other study populations for confirmation, the present results suggest that SLC12A1 may contribute to hypertension in Japanese women.	Cohort 1,880 subjects representing the general population in Japan, recruited from the Suita study Japan 										
123733	Y	seizures	NEUROLOGICAL	NEUR	Seizures, Febrile|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Chou, I. C.  et al. 2003	12672902				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDPinfo	2566	Hs.7195			Pediatric research. 2003 Jul;54(1):26-9	Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.		137164	10784	2	2003	These data suggest that the GABRG2 gene might be one of the susceptibility factors for FSs.	Case:104 children with febrile seizures;Control:83 normal control subjects										
123584		Behcet's Disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	1	1q21-q22	FY	157439720	157442914		Pittoni, V.  et al. 2003	12739041				Duffy blood group	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537430	Caucasian	Italy	CDC GDPinfo	2532	Hs.153381			Rheumatology international. 2003 May;23(3):116-20	Polymorphism of the Duffy erythrocyte chemokine receptor in Italian patients with Bechet's disease.		110700	10769	2	2003	This investigation indicates that DARC is not a genetic trait significantly associated with or predisposing to Behcet's disease, at least in Caucasian Italians. However, the role of this polymorphism in the development and in the clinical course of the disease awaits further investigation.	Case:28 patients with Behcet's disease;Control:30 healthy blood donors										
123105		susceptibility to Multiple Sclerosis	IMMUNE	IMM	Multiple Sclerosis	1	1q23	FASLG	170894807	170902635		Kantarci OH 2004	14698859				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			KGB	356	Hs.2007			Journal of neuroimmunology. 2004 Jan;146(2-Jan):162-70	CD95 polymorphisms are associated with susceptibility to MS in women. A population-based study of CD95 and CD95L in MS.		134638	7569	1	2004	Our results agree with the previously published studies and highlight that the association of the polymorphisms is restricted to women with MS. We did not find an association between CD95L and susceptibility to MS nor CD95 or CD95L and age of onset, disease course and disease severity.	Case:221 multiple sclerosis patients representing 79% ascertainment in Olmsted County, MN Olmsted County, MN;Control:442 gender-, age- and ethnicity-matched controls										
123040		glucose; insulin resistance	METABOLIC	MET	Hyperglycemia|Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Ishii, T.  et al. 2001	11699048				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Japanese		CDC GDPinfo	2169	Hs.282265			Metabolism:  clinical and experimental. 2001 Nov;50(11):1301-7	Effects of intestinal fatty acid-binding protein gene Ala54Thr polymorphism and beta3-adrenergic receptor gene Trp64Arg polymorphism on insulin resistance and fasting plasma glucose in young to older Japanese men.		134640	21386	2	2001	In conclusion, no major difference was associated with the beta3AR Trp64Arg or FABP2 Ala54Thr polymorphism in terms of type 2 diabetes or hyperlipidemia in young to older Japanese men. However, a slight but significant increase in FPG was observed in older Japanese men with the FABP2 Thr/Thr genotype. Copyright 2001 by W.B. Saunders Company	Case:122 older hyperglycemic men, including 77 type 2 diabetic patients;Control:186 older normoglycemic men (fasting plasma glucose [FPG] < 110 mg/dL) aged 40 to 65 years;Control:196 young men aged 21 to 39 years;Control:204 normolipidemic subjects;Case:27 hyperlipidemic subjects										
123024	Y	insulin; obesity	METABOLIC	MET	Insulin Resistance|Obesity	4	4q28-q31	FABP2	120457852	120462766		Albala, C.  et al. 2004	14981227	A54T			Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDPinfo	2169	Hs.282265			Obesity research. 2004 Feb;12(2):340-5	Intestinal FABP2 A54T polymorphism: associationwith insulin resistance and obesity in women.		134640	10539	2	2004	Our results suggest that the Ala54Thr polymorphism of the FABP2 gene is associated with obesity and insulin resistance. The effect of this polymorphism might be mediated by elevated production of TNF alpha.	Control:30 adult normal-weight women (BMI > 18.5 and < 25:kg/m(2));Case:33 adult obese women (BMI > or = 30)										
122779		retinal artery occlusion	OTHER	OTH	Retinal Artery Occlusion|Cardiovascular Diseases	1	1q23	F5	167747815	167822393		Weger M 2003	12928685				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			KGB	2153	Hs.30054			Eye (London, England). 2003 Aug;17(6):731-4	Role of factor V Leiden and prothrombin 20210A in patients with retinal artery occlusion.		227400	2495	1	2003	 Our data suggest that factor V Leiden and prothrombin 20210A do not play a major role in patients with retinal artery occlusion.											
122639		intrauterine growth retardation	REPRODUCTION	REP	Fetal Growth Retardation	6	6p25.3-p24.3	F13A1	6089309	6265923		Infante-Rivard, C.  et al. 2005	16192348				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2		Canada	CDC GDPinfo	2162	Hs.335513			American journal of epidemiology. 2005 Nov;162(9):891-7	Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns		134570	10479	2	2005												
122377		radiation toxicity	UNKNOWN	UNK	Carcinoma, Squamous Cell|Oropharyngeal Neoplasms	16	16p13.3-p13.11	ERCC4	13921523	13949705		Kornguth, D. G.  et al. 2005	15936543				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDPinfo	2072	Hs.567265			International journal of radiation oncology, biology, physics. 2005 Jul;62(3):665-71	Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants.		133520	16534	2	2005	 Our findings suggest that the ERCC4 T2505C polymorphism may be associated with improved recovery from radiation treatment toxicity in patients with OPSCC. Further study with larger sample sizes and prospective measure of radiotherapy-induced toxicity is warranted.	Cohort 130 patients with oropharyngeal squamous cell carcinoma prospectively recruited 										
122225		styrene toxicity	UNKNOWN	UNK		1	1q42.1	EPHX1	224064453	224099884		Ma, M.  et al. 2005	16125881				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDPinfo	2052	Hs.89649			Toxicology letters. 2005 Dec;160(1):84-91	Influence of genetic polymorphisms of styrene-metabolizing enzymes and smoking habits on levels of urinary metabolites after occupational exposure to styrene.		132810	24346	2	2005			smoking (tobacco)									
121634	N	schizophrenia	PSYCH	PSY	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Hoogendoorn, M. L.  et al. 2005	15635698				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Dutch		CDC GDPinfo	1814	Hs.121478			American journal of medical genetics Part B, Neuropsychiatric genetics. 2005 Apr;134(1):9-Jun	No association between 12 dopaminergic genes and schizophrenia in a large Dutch sample.		126451	16438	2	2005	The results of our comprehensive analysis provide no evidence for association between schizophrenia and 12 dopaminergic genes in a large Dutch sample.	Case:208 schizophrenic patients in a pooled sample;Case:282 Dutch schizophrenic patients;Control:288 unmatched control individuals;Control:585 control individuals										
120410	Y	smoking	OTHER	OTH		15	15q22-q24	CYP1A1	72798942	72804930		Shinozaki S et al. 1996	8672811				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			KGB	1543	Hs.72912	smoking		Japanese journal of public health. 1996 Apr;43(4):308-14	Association of cytochrome P-450 1A1 (CYP1A1) gene polymorphism to smoking status and hematologic findings		108330	1567	1	1996												
120063		HIV/SIV infection	INFECTION	INF	HIV Infections	2	2q21	CXCR4	136588388	136592195		Puissant B 2003	12879309				Chemokine (C-X-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008540.1			KGB	7852	Hs.421986			Immunogenetics. 2003 Aug;55(5):275-83	Polymorphism of human and primate RANTES, CX3CR1~~~ CCR2 and CXCR4 genes with regard to HIV/SIV infection.		162643	6557	1	2003												
120048		HIV	INFECTION	INF	HIV Infections	10	10q11.1	CXCL12	44185610	44200548		Bogner, J.  et al. 2004	15236615				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDPinfo	6387	Hs.522891			HIV medicine. 2004 Jul;5(4):264-72	Association of highly active antiretroviral therapy failure with chemokine receptor 5 wild type.		600835	24184	2	2004	 Chemokine receptor polymorphisms have a modifying effect on the virological response to HAART. Multivariate analysis demonstrated that heterozygosity for the CCR5-Delta32-bp variant is an independent prognostic factor for treatment outcome.	Control:221 healthy controls;Case:256 HIV-infected patients receiving highly active antiretroviral therapy	antiretroviral									
119908	Y	rheumatoid arthritis; celiac disease	IMMUNE	IMM	Celiac Disease|Autoimmune Diseases	2	2q33	CTLA4	204440753	204446928		Zhernakova, A.  et al. 2005	16025348				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Dutch		CDC GDPinfo	1493	Hs.247824			Human genetics. 2005 Nov;118(1):58-66	CTLA4 is differentially associated with autoimmune diseases in the Dutch population.		123890	15937	2	2005												
119836	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Genc, S.  et al. 2004	15237707				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Turkish	Turkey	CDC GDPinfo	1493	Hs.247824			Journal of pediatric endocrinology & metabolism. 2004 May;17(5):731-5	Analysis of cytotoxic T lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism in patients with type 1 diabetes mellitus in a Turkish population.		123890	9585	2	2004	The results of the present study do not suggest an association of the known polymorphism in exon 1 of the CTLA-4 gene with DM1 in this Turkish population, and G-allele containing CTLA-4 genotypes were not preferentially associated with age at clinical presentation or with presence of other genetic (HLA-DR3 or -DR4) markers of DM1.	Case:48 children with type 1 diabetes:Turkey;Control:80 healthy controls										
119789	Y	myeloma, multiple	CANCER	CAN	Multiple Myeloma|Paraproteinemias|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Zheng, C.  et al. 2001	11167807				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDPinfo	1493	Hs.247824			British journal of haematology. 2001 Jan;112(1):216-8	Cytotoxic T-lymphocyte antigen-4 microsatellite polymorphism is associated with multiple myeloma.		123890	9536	2	2001	The results showed that frequencies of the genotype 86/86 and of the allele 86 were significantly decreased in MM and MGUS compared with matched healthy controls, indicating that the CTLA-4 microsatellite polymorphism might represent a susceptibility locus for MM and MGUS.	Case patients with multiple myeloma;Control ethnically matched healthy controls										
119480		bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	7	7q22.1	COL1A2	93861808	93898480		Lau, E. M.  et al. 2004	15085313				Collagen, type I, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000089.3	Chinese	China	CDC GDPinfo	1278	Hs.489142			Calcified tissue international. 2004 Aug;75(2):133-7	The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women		120160	20814	2	2004	We conclude that  the COLI Al Sp1 binding site is absent in Hong Kong Chinese, whereas the COLI A2 Eco R1 and Puv II genetic polymorphisms may be associated with the BMD of elderly Chinese men.	Cohort 683 Chinese men and women Hong Kong 										
119411	N	bullous pemphigoid	UNKNOWN	UNK	Pemphigoid, Bullous|Genetic Predisposition to Disease	10	10q24.3	COL17A1	105781035	105835628		Winsey, S.  et al. 2004	14987253				Collagen, type XVII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000494.2			CDC GDPinfo	1308	Hs.117938			Experimental dermatology. 2004 Mar;13(3):140-7	Genetic variation in COL17A1 and the development of bullous pemphigoid		113811	15851	2	2004	 This study provides an extensive description of the genetic variation in COL17A1 and shows no association of the genetic variants with susceptibility to BP.	Control:controls;Case patients with bullous pemphigoid										
119105	Y	cholesteryl ester transfer protein	METABOLIC	MET		16	16q21	CETP	55553262	55575257		Liu, J.  et al. 2003	12820950				Cholesteryl ester transfer protein, plasma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000078.1			CDC GDPinfo	1071	Hs.89538			Zhonghua liu xing bing xue za zhi. 2003 Apr;24(4):300-3	[Study on the distribution and association of cholesteryl ester transfer protein-TaqIB polymorphism and plasma concentration in general population]		118470	9369	2	2003	 CETP-TaqIB polymorphism was a determinant of plasma CETP concentration. However, the effect could be modified by other factors, such as lipids, smoking and alcohol consumption.	Cohort 719 individuals aged 45-64 years Beijing 1999 	alcohol smoking (tobacco)									
118311		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Arteriosclerosis|Hypertension	21	21q22.3	CBS	43346369	43369493		Assanelli, D.  et al. 2004	15554031				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDPinfo	875	Hs.533013			Italian heart journal. 2004 Aug;5(8):604-11	Determinants of early-onset cardiovascular disease:a case-control study of young myocardial infarction patients.		236200	20645	2	2004	 On the basis of these results, we believe that acute coronary events in young subjects should be followed by a screening of their siblings, as they might be at higher risk for cardiovascular disease.	Case:48 subjects (age < 41 years) diagnosed with myocardial:infarction;Control:48										
118182	Y	Crohn's disease; ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease	16	16p12-q21	CARD15	49288551	49324488		Giachino, D.  et al. 2004	14747834				Caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022162.1	Italian	Italy	CDC GDPinfo	64127	Hs.592072			European journal of human genetics. 2004 Mar;12(3):206-12	Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.		605956	15573	2	2004	Our findings indicate that the association of the CARD15 genotype with behaviour and location of disease holds also for the Italian population.	Control:177 healthy controls;Case:184/92 Italian Crohn's disease (n=184) and ulcerative:colitis (n=92) patients										
117753	Y	Hodgkin's disease	CANCER	CAN	Hodgkin Disease	18	18q21.33	BCL2	58941558	59137637		Hohaus, S.  et al. 2003	12960134				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDPinfo	596	Hs.150749			Clinical cancer research. 2003 Aug;9(9):3435-40	Association between glutathione S-transferase genotypes and Hodgkin's lymphoma risk and prognosis.		151430	15411	2	2003	 The GSTT1-null genotype may increase the risk for HL and is associated with favorable prognostic factors, and the presence of at least one GST deletion indicates an improved disease-free survival.	Control:176 normal blood donors;Case:90 patients with Hodgkin's lymphoma										
117735		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q26.1-q26.2	BCHE	166973386	167037944		Nassar, B. A.  et al. 2005	16298355				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1			CDC GDPinfo	590	Hs.420483			LastName. 2005	=>Author:Nassar, B. A. //Rockwood, K. //Kirkland, S. A. //Ransom, T. P. //Darvesh, S. //Macpherson, K. //Johnstone, D. E. //O'neill, B. J. //Bata, I. R. //Andreou, P. //Jeffery, J. S. //Cox, J. L. //Title, L. M.		177400	20573	2	2005	 While any single mutation causes only a mildly increased LR (none > 1.7), in combination, the likelihood of early-onset CAD increased to 2.78 with four mutations. The genetics of early-onset CAD appear to be multifactorial, requiring polygenic models to elucidate risk.											
117712		post-succinylcholine apnea	OTHER	OTH	Apnea	3	3q26.1-q26.2	BCHE	166973386	167037944		Yen T 2003	12881446				Butyrylcholinesterase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000055.1	unknown	Australia	KGB	590	Hs.420483			Clinical chemistry. 2003 Aug;49(8):1297-308	Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population.		177400	941	1	2003	 A five-mutation screen for investigation of post-SC apnea identified BCHE gene abnormalities for 80% of a referral population. Six new BCHE mutations were identified by sequencing studies of 16 additional patients.	Cohort 65 patietns referred after prolonged poast-succinylcholine apnea 1999-2002										
117598		bipolar disorder	PSYCH	PSY		19	19q13.31	ATP1A3	47162573	47190222		Mynett-Johnson L et al. 1998	9646882				ATPase, Na+/K+ transporting, alpha 3 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_152296.3			KGB	478	Hs.515427			Biological psychiatry. 1998 Jul;44(1):47-51	Evidence for an allelic association between bipolar disorder and a Na+ K+ adenosine triphosphatase alpha subunit gene (ATP1A3).		182350	918	1	1998	 The results presented here provide preliminary evidence of an association between bipolar disorder and an alpha subunit of Na+, K+ ATPase, the expression of which predominates in the brain.											
117448	N	antiphospholipid syndrome	IMMUNE	IMM	Pregnancy Complications, Hematologic|Thrombosis	17	17q23-qter	APOH	61638612	61655992		Camilleri, R. S.  et al. 2003	12648080				Apolipoprotein H (beta-2-glycoprotein I)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000042.1			CDC GDPinfo	350	Hs.445358			British journal of haematology. 2003 Mar;120(6):1066-72	Lack of association of beta2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complications.		138700	8807	2	2003	Thus, the Ser316 allele may protect women from developing pregnancy complications by influencing an anticoagulant function of beta2GPI via a mechanism distinct from aPL production.	Case:230 Caucasian patients referred for antiphospholipid antibody screening;Control:308 ethnic-matched normal controls										
117135	Y	Severe type III hyperlipoproteinemia	OTHER	OTH	Hyperlipoproteinemia Type III	19	19q13.2	APOE	50100878	50104490		Feussner G et al. 1992	1360898				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			European journal of clinical investigation. 1992 Sep;22(9):599-608	Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and epsilon 1/'null' genotype.		107741	764	1	1992												
117118		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Kamboh MI et al. 1995	7670501				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Nature genetics. 1995 Aug;10(4):486-8	APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism.		107741	747	1	1995												
117112	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Song YQ et al. 1998	9708864			promoter	Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Neuroscience letters. 1998 Jul;250(3):189-92	Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.		107741	741	1	1998												
117052		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Dementia|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Parsian A et al. 2002	11863377				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			KGB	348	Hs.515465			Genomics. 2002 Mar;79(3):458-61	Parkinson's disease and apolipoprotein E: possible association with dementia but not age at onset.		107741	681	1	2002	We conclude that  APOE does not play an important role in susceptibility to PD or age at onset of PD, but may play a role in dementia associated with PD in our sample.											
116755		lipoproteins	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Heng, C. K.  et al. 2001	11264435			promoter	Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	Indian		CDC GDPinfo	335	Hs.93194			Pediatric research. 2001 Apr;49(4):514-8	Variations in the promoter region of the apolipoprotein a-1 gene influence plasma lipoprotein(a) levels in asian indian neonates from singapore		107680	15205	2	2001	Our results showed that there is significant ethnic- and gender-specific influence of the apoA1 gene on plasma Lp(a) levels at birth that is inherent and independent of known gene-environment interactions.	Cohort 1076 newborns of both genders from the three major ethnic groups in Singapore-Chinese, Malays, and Asian Indians 										
116692	N	Familial Combined Hyperlipoproteinemia	METABOLIC	MET	Hyperlipidemia, Familial Combined	11	11q23-q24	APOA1	116211678	116213548	n	Marcil M 1996	9026529	Xmnl and SstI restriction fragment length ploymorphisms (RFLP)			Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1	French Canadian	Quebec|France	KGB	335	Hs.93194			Journal of lipid research. 1996 Feb;37(2):309-19			107680	545	1	1996	We conclude that  in our highly selected group of FCH subjects of French Canadian descent, the XmnI and SstI RFLPs of the apoA-I gene and common functional mutations of the LPL gene resulting in complete LPL deficiency are not associated with FCH.											
116637	Y	severe desmoid phenotype	OTHER	OTH	Fibromatosis, Aggressive|Colonic Neoplasms|Skin Neoplasms	5	5q21-q22	APC	112101482	112209835		Couture J et al. 2000	10782927				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			KGB	324	Hs.158932			Clinical genetics. 2000 Mar;57(3):205-12	A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.		175100	534	1	2000												
116519		hepatitis, acute alcoholic	OTHER	OTH	Hepatitis, Alcoholic|Acute Disease|Genetic Predisposition to Disease	12	12q24.2	ALDH2	110688728	110732167			16324524				Aldehyde dehydrogenase 2 family (mitochondrial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000690.2			CDC GDPinfo	217	Hs.632733			Rev Clin Esp. 2005 Nov;205(11):528-32	[Genetic susceptibility to the develpment of acute alcoholic hepatitis: role of genetic mutations indehydrogenae alcohol, aldehyde dehydrogenase and cytochrome P450 2E1.]		100650	20420	2	2005	 The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.											
116445	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	14	14q32.32	AKT1	104306731	104333125	n	Matsubara A 2001	11508278	13 putative intragenic single nucleotide polymorphisms			V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Ashkenazi Jews		KGB	207	Hs.525622			Diabetologia. 2001 Jul;44(7):910-3	Isolation and characterization of the human AKT1 gene, identification of 13 single nucleotide polymorphisms (SNPs), and their lack of association with Type II diabetes		164730	461	1	2001	The results of our studies show that the AKT1 gene is not a major contributor to susceptibility to Type II diabetes mellitus in Ashkenazi Jews.	Case Ashkenazi Jewish patients with Type II diabetes:mellitus;Control not specified in abstract										
116431	Y	diabetes, type 2	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Sivenius, K.  et al. 2004	15569136				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2	Finnish		CDC GDPinfo	231	Hs.521212			Diabetic medicine. 2004 Dec;21(12):1325-33	Aldose reductase gene polymorphisms and susceptibility to microvascular complications in Type 2 diabetes		103880	8591	2	2004	 The present study suggests that the C-106T polymorphism of the aldose reductase gene could be involved in the early development of microalbuminuria in Finnish Type 2 diabetic patients.	Control:126 non-diabetic control subjects;Case:85 Finnish, middle-aged, newly diagnosed Type 2 diabetic patients										
116245		cardiovascular	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480		Gardemann A et al. 1998	9857918				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			KGB	185	Hs.477887			European heart journal. 1998 Nov;19(11):1657-65	Angiotensin II type 1 receptor A1166C gene polymorphism. Absence of an association with the risk of coronary artery disease and myocardial infarction and of a synergistic effect with angiotensin-converting enzyme gene polymorphism on the risk of these dis		106165	437	1	1998	 This angiotensin II type 1 receptor A1166C gene variation is not associated with any detectable increase in risk of ischaemic heart disease. The findings of the present study do not suggest that, as regards risk of coronary artery disease and myocardial infarction, there is interaction between gene polymorphism and angiotensin I-converting enzyme Insertion/Deletion gene variation.											
116164		diabetes, type 2; hypertriglyceridemic waist	METABOLIC	MET	Diabetes Mellitus, Type 2|Hypertriglyceridemia|Genetic Predisposition to Disease	1	1q42-q43	AGT	228904891	228916564		Pollex, R. L.  et al. 2005	16276364				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2	Canadian		CDC GDPinfo	183	Hs.19383			International journal of obesity (2005). 2005	Clinical and genetic associations with hypertriglyceridemic waist in a Canadian aboriginal population.		106150	19788	2	2005	 HTGW is prevalent in Oji-Cree, especially in men. The ORs for type 2 diabetes were similar ( approximately 5-fold) for subjects with either the presence of HTGW or the private HNF1A G319S mutation. These two independent risk factors acted synergistically to confer an even greater increased risk of type 2 diabetes.											
115683	Y	motion sickness	OTHER	OTH	Motion Sickness|Genetic Predisposition to Disease	10	10q24-q26	ADRA2A	112826910	112830560		Liu, L.  et al. 2002	12019440				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDPinfo	150	Hs.249159			Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica. 2002 May;34(3):291-7	[The human alpha(2A)-AR gene and the genotype of site -1296 and the susceptibility to motion sickness]		104210	15080	2	2002	The results suggested that gg genotype and g allele at site -1296 in alpha(2A)-AR gene could associate with the susceptibility to motion sickness.	Case individuals susceptible to motion sickness;Control individuals not susceptible to motion sickness										
115587		hepatitis, acute alcoholic	OTHER	OTH	Hepatitis, Alcoholic|Acute Disease|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581			16324524				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDPinfo	125	Hs.4			Rev Clin Esp. 2005 Nov;205(11):528-32	[Genetic susceptibility to the develpment of acute alcoholic hepatitis: role of genetic mutations indehydrogenae alcohol, aldehyde dehydrogenase and cytochrome P450 2E1.]		103720	15047	2	2005	 The data suggest a possible association between the presence of the Rsa I of CYP2E1 and the development of AAH in patients with chronic alcohol consumption.											
115090		metamphetamine dependence	OTHER	OTH	Substance-Related Disorders	17	17q23	ACE	58908165	58952935		Sery O et al. 2001	11300226				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Physiological research. 2001 ;50(1):43-50	The association study of DRD2 ACE and AGT gene polymorphisms and metamphetamine dependence.		106180	1931	1	2001												
115077	Y	cerebral atherosclerosis	CARDIOVASCULAR	CARD	Intracranial Arteriosclerosis	17	17q23	ACE	58908165	58952935		Sertic J et al. 1996	8704045				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			European journal of clinical chemistry and clinical biochemistry. 1996 Apr;34(4):301-4	Association between deletion polymorphism of the angiotensin-converting enzyme gene and cerebral atherosclerosis.		106180	1918	1	1996												
115048	Y	insulin resistance	METABOLIC	MET	Insulin Resistance	17	17q23	ACE	58908165	58952935		Chiu KC et al. 1997	9109842				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Metabolism:  clinical and experimental. 1997 Apr;46(4):395-9	The insertion allele at the angiotensin I-converting enzyme gene locus is associated with insulin resistance.		106180	1889	1	1997	We conclude that  the I allele is associated with insulin resistance in glucose-tolerant and normotensive African-Americans.											
115035	N	mood disorder	PSYCH	PSY	Mood Disorders	17	17q23	ACE	58908165	58952935	n	Pauls J et al. 2000	11145009				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			J Neural Transm. 2000 ;107(11):1361-6	Polymorphism of the gene of angiotensin converting enzyme: lack of association with mood disorder.		106180	1876	1	2000												
115030	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	17	17q23	ACE	58908165	58952935	n	Stober G et al. 1998	9588764			promoter	Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			J Neural Transm. 1998 ;105(1):101-9	Insertion/deletion variant (-141C Ins/Del) in the 5' regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder. Short communication.		106180	1871	1	1998												
114907	N	Wall Thickness of the Radial and carotid Arteries	CARDIOVASCULAR	CARD	Hypertrophy	17	17q23	ACE	58908165	58952935	n	Girerd X 1998	9740630	ACE I/D			Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			KGB	1636	Hs.298469			Hypertension. 1998 Sep;32(3):579-83			106180	1748	1	1998												
114590	Y	tacrolimus dose requirements	OTHER	OTH		7	7q21.1	ABCB1	86970883	87180500		Anglicheau D 2003	12819250				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			KGB	5243	Hs.489033	renal transplant		Journal of the American Society of Nephrology. 2003 Jul;14(7):1889-96	Association of the multidrug resistance-1 gene single-nucleotide polymorphisms with the tacrolimus dose requirements in renal transplant recipients.		171050	4955	1	2003	Genotype monitoring of the MDR1 gene reliably predicts the optimal dose of tacrolimus in renal transplant recipients and may predict the initial daily dose needed by individual patients to obtain	Cohort 81 renal transplant recpients	tacrolimus									
136180		bipolar disorder	PSYCH	PSY	Bipolar Disorder	11	11p15.5	TH	2141734	2149611		Moliaka IuK et al. 1998	9674984				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			American journal of medical genetics. 1998 Jul;81(4):349-52	Methodological problems in meta-analysis of association studies between bipolar affective disorders and the tyrosine hydroxylase gene.		191290	5863	1	1998												
136171	N	schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	11	11p15.5	TH	2141734	2149611	n	Burgert E et al. 1998	9686421				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Psychiatric genetics. 1998 ;8(2):45-8	No association between the tyrosine hydroxylase microsatellite marker HUMTH01 and schizophrenia or bipolar I disorder.		191290	5854	1	1998												
136165	Y	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	TH	2141734	2149611		Thibaut F et al. 1997	9075305			intron	Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			KGB	7054	Hs.435609			Schizophrenia research. 1997 Feb;23(3):259-64	Association of DNA polymorphism in the first intron of the tyrosine hydroxylase gene with disturbances of the catecholaminergic system in schizophrenia.		191290	5848	1	1997												
135738	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	TAP2	32897587	32914525		Jun, T. Y.  et al. 2004	15318034				Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000544.3	Korean		CDC GDPinfo	6891	Hs.502			Psychiatric genetics. 2004 Sep;14(3):173-6	No association of TAP2 polymorphisms in Korean patients with schizophrenia.		170261	14169	2	2004	 This study did not show the association of the TAP2 gene with schizophrenia in the Korean population.	Control:184 normal controls;Case:257 Korean patients diagnosed with schizophrenia										
135482	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	2	2p23	SRD5A2	31603159	31659544		Chang, B. L.  et al. 2003	12746845				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			CDC GDPinfo	6716	Hs.458345			The Prostate. 2003 Jun;56(1):37-44	Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer.		607306	19708	2	2003	 Polymorphisms of SRD5A2 are unlikely to significantly increase susceptibility to hereditary or sporadic prostate cancer in the study populations.	Control:222 unaffected controls;Case:245 sporadic prostate cancer cases										
135457	N	cryptorchidism.	DEVELOPMENTAL	DEV	Oligospermia|Cryptorchidism	2	2p23	SRD5A2	31603159	31659544	n	Suzuki Y et al. 2002	12137870				Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2	Japanese	Japan	KGB	6716	Hs.458345			Fertility and sterility. 2002 Aug;78(2):330-4	5Alpha-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism.		607306	5629	1	2002	5alpha-Reductase type 2 gene abnormalities do not constitute a major factor in the development of cryptorchidism or idiopathic azoospermia.	Case:48/33 patients with isolated cryptorchidism (n = 48) or idiopathic azoospermia (n = 33);Control:51 control group of males with proven fertility										
135456	Y	clinical parameters and endocrine status in elderly men	AGING	AGE	Prostatic Hyperplasia	2	2p23	SRD5A2	31603159	31659544		Schatzl G et al. 2002	12111704	V89L and A49T	Men with the mutated SRD5A2 V89L gene had lower testosterone levels	coding sequence	Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000348.2			KGB	6716	Hs.458345			The Prostate. 2002 Jul;52(2):130-8	Association of polymorphisms within androgen receptor 5alpha-reductase and PSA genes with prostate volume clinical parameters and endocrine status in elderly men.		607306	5628	1	2002	 In contrast to prostate cancer, polymorphisms within AR and PSA genes do not seem to be of importance for benign prostatic hyperplasia. Polymorphisms within the 5alpha-reductase gene are interesting biomarkers for the development of benign prostatic hyperplasia and benign prostatic enlargement.	Cohort 190 elderly (66.5 +/- 9.2 yr) men with lower urinary tract symptoms										
135437	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Inflammation	4	4q21-q25	SPP1	89115825	89123587		Xu, G.  et al. 2005	15742430				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1			CDC GDPinfo	6696	Hs.313			The Journal of rheumatology. 2005 Mar;32(3):410-6	Overexpression of osteopontin in rheumatoid synovial mononuclear cells is associated with joint inflammation, not with genetic polymorphism.		166490	14064	2	2005	 Overexpression of OPN mRNA in SFMC is associated with proinflammatory factors produced in inflamed joints, but not with OPN genetic polymorphisms. OPN gene polymorphisms do not correlate with susceptibility to RA.	Case:192 Chinese patients with rheumatoid arthritis;Control:288:controls										
135195		bilirubin	METABOLIC	MET		12	12p	SLCO1B1	21175402	21283997		Ieiri, I.  et al. 2004	15519273				Solute carrier organic anion transporter family, member 1B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006446.2			CDC GDPinfo	10599	Hs.449738			Hepatology research. 2004 Oct;30(2):91-95	Influence of common variants in the pharmacokinetic genes (OATP-C, UGT1A1, and MRP2) on serum bilirubin levels in healthy subjects.		604843	23503	2	2004	Large clinical studies are needed to confirm a role of OATP-C in the carrier-mediated uptake of bilirubin in the human liver.	Cohort 23 volunteers 										
135083	Y	anxiety disorder; alcohol abuse	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Olsson, C. A.  et al. 2005	15852063				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			Molecular psychiatry. 2005 Sep;10(9):868-76	Association between 5-HTTLPR genotypes and persisting patterns of anxiety and alcohol use:results from a 10-year longitudinal study of adolescent mental health.		182138	19598	2	2005	Our data suggest that the S-allele is likely to be important in psychosocial development, particularly in those settings that increase risk of anxiety and alcohol use problems.	Cohort subjects from a cohort of young Australians followed from 14 to 24 years of age (Victorian Adolescent Health Cohort Study, 1992 - present) 										
134987	Y	personality traits; illegal drug use	PSYCH	PSY	Substance-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Gerra, G.  et al. 2005	15666036			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			J Neural Transm. 2005 Oct;112(10):1397-410	Serotonin transporter promoter polymorphism genotype is associated with temperament, personality traits and illegal drugs use among adolescents.		182138	13945	2	2005	Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to "S" promoter polymorphism, may be associated with an increased availability to experiment illegal drugs among adolescents, particularly in the subjects with more consistent aggressiveness, NS temperament and learning disabilities.	Control:125 Caucasian high school students (aged 14-19 ys) who abstined from illegal drugs;Case:91 Caucasian high school students (aged 14-19 ys) who experimented with illegal drugs										
134967	N	personality disorders	PSYCH	PSY	Impulse Control Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Baca-Garcia, E.  et al. 2004	15123389			promoter	Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Spanish		CDC GDPinfo	6532	Hs.591192			Psychiatry research. 2004 Apr;126(2):99-106	Lack of association between the serotonin transporter promoter gene polymorphism and impulsivity or aggressive behavior among suicide attempters and healthy volunteers.		182138	13924	2	2004	While our Spanish suicide attempters and published US suicide attempters have similar BIS scores, our Spanish suicide attempters have significantly lower aggressive behavior scores. If cross-cultural differences in aggressive behavior scores are definitively established, country norms for aggressive behavior scales will need to be developed to compare genetic studies in different countries.	Case:216 suicide attempters;Control:223 control blood donors										
134933	N	schizophrenia	PSYCH	PSY	Schizophrenia	17	17q11.1-q12	SLC6A4	25549031	25586831		Czerski, P. M.  et al. 2003	12692777	(T102c)			Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDPinfo	6532	Hs.591192			The world journal of biological psychiatry. 2003 Apr;4(2):69-73	Association analysis of serotonin 2A receptor gene T102c polymorphism and schizophrenia.		182138	13890	2	2003	No association was found between the studied polymorphism and schizophrenia. Results were also not significant when analysed by gender. Subgroups with regard to schizophrenia subtypes, age of onset and clinical course of schizophrenia were analysed with negative results.	Case:235 patients with schizophrenia;Control:344:controls										
134596		citrin deficiency	METABOLIC	MET	Citrullinemia	7	7q21.3	SLC25A13	95587467	95789341		Lu, Y. B.  et al. 2005	16059747				Solute carrier family 25, member 13 (citrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014251.1	Japanese	Far East	CDC GDPinfo	10165	Hs.489190			Journal of human genetics. 2005 ;50(7):338-46	Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.		603859	19488	2	2005												
134155	Y	Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	14	14q32.1	SERPINA3	94128146	94160143		Morgan K et al. 1997	9003488				Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001085.4			KGB	12	Hs.534293			Human genetics. 1997 Jan;99(1):27-31	Microsatellite polymorphism of the alpha 1-antichymotrypsin gene locus associated with sporadic Alzheimer's disease.		107280	80	1	1997												
134065		cerebrovascular disease; sickle cell anemia	CARDIOVASCULAR	CARD	Cerebrovascular Disorders|Anemia, Sickle Cell|Genetic Predisposition to Disease	1	1q22-q25	SELP	167824711	167866031		Adams, G. T.  et al. 2003	12871600				Selectin P (granule membrane protein 140kDa, antigen CD62)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003005.2			CDC GDPinfo	6403	Hs.73800			BMC medical genetics [electronic resource]. 2003 Jul;4:6	Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of acase-control association study and genomewide screen.		173610	28491	2	2003	It is expected that this study will yield important information on genetic risk factors for the cerebrovascular disease phenotype in SCD by clarifying the role of candidate genes in the development of high TCD. The genomewide screen for a large number of SNPs may uncover the association of novel polymorphisms with cerebrovascular disease and stroke in SCD.	Case:230 sickle cell anemail patients;Control:400:controls										
134012	Y	systemic lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q22-q25	SELE	167958405	167969803		El-Magadmi, M.  et al. 2001	11764211	A561C			Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1		Turkey|Great Britain|Spain	CDC GDPinfo	6401	Hs.89546			The Journal of rheumatology. 2001 Dec;28(12):2650-2	Association of the A561C E-selectin polymorphism with systemic lupus erythematosus in 2 independent populations.		131210	13565	2	2001	 In 2 of 3 populations studied, the E-selectin C allele was significantly more common in SLE than in controls. E-selectin may be a susceptibility gene to SLE in these populations. Its role in disease expression and longterm outcomes such as accelerated atherosclerosis requires further study.	Case 3 cohorts of SLE patients of Caucasians of British Isles descent, Caucasians of Spanish origin, and Caucasians of Turkish origin;Control matching population controls										
133751		neural tube defects	DEVELOPMENTAL	DEV		21	21q22.3	SLC19A1	45759056	45786779		Pei, L.  et al. 2005	15952116				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDPinfo	6573	Hs.507475			Zhonghua yi xue yi chuan xue za zhi. 2005 Jun;22(3):284-7	Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects.		600424	13502	2	2005	 The above findings indicate that the RFC1 genotype (GG) is a possible susceptible gene marker for an increased NTDs risk in Chinese population, and there is a potential gene-nutrient interaction between offspring RFC1 GG genotype and maternal periconceptional intake of folic acid on the risk of NTDs. However,the sample size of this study was limited, a larger sample of population-based study is required to pursue the initial observation.		folate									
133669	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	REN	202390570	202402088		Morris BJ et al. 1988	2892488				Renin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000537.2			KGB	5972	Hs.3210			Biochemical and biophysical research communications. 1988 Jan;150(1):219-24	Frequency in hypertensives of alleles for a RFLP associated with the renin gene.		179820	5265	1	1988												
133415		Alzheimer's Disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179			16309832	(-765 C )		promoter	Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDPinfo	5743	Hs.196384			Neuroscience letters. 2005	The cyclooxygenase 2 -765 C promoter allele is a protective factor for Alzheimer's disease		600262	13397	2	2005												
133113		longevity	AGING	AGE		4	4p15.1	PPARGC1A	23402741	23500798		Kojima, T.  et al. 2004	15582274				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2	Japanese		CDC GDPinfo	10891	Hs.527078			Experimental gerontology. 2004 Nov-Dec;39(12-Nov):1595-8	Association analysis between longevity in the Japanese population and polymorphic variants of genes involved in insulin and insulin-like growth factor 1 signaling pathways.		604517	27602	2	2004	One INSR haplotype, which was comprised of 2 SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls.	Control:122 healthy younger controls;Case:122 Japanese semisupercentenarians (older than 105)										
133102	Y	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p15.1	PPARGC1A	23402741	23500798		Oberkofler, H.  et al. 2003	12574109				Peroxisome proliferative activated receptor, gamma, coactivator 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013261.2			CDC GDPinfo	10891	Hs.527078			Hypertension. 2003 Feb;41(2):368-72	Peroxisome proliferator-activated receptor-gamma coactivator-1 gene locus: associations withhypertension in middle-aged men.		604517	19054	2	2003	These results suggest, but do not prove, that PPARGC1 participates in blood pressure control, and sequence substitutions at its gene locus confer an increased risk of hypertension to a substantial proportion of men.	Cohort 683;530 middle-aged men (n=683) and women (n=530) of a cross-sectional Austrian population Austria 										
133089		restenosis	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Constriction, Pathologic|Recurrence|Inflammation	3	3p25	PPARG	12304348	12450855		Zee, R. Y.  et al. 2002	12082592				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDPinfo	5468	Hs.162646			The pharmacogenomics journal. 2002 ;2(3):197-201	Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis ofcommon complex disease.		601487	28665	2	2002	Our results emphasize the need to account for complex multi-gene influences and interactions when assessing the molecular pathology of multifactorial medical entities.	Case:342 patients undergoing post-PTCA restenosis;Control:437:controls	smoking (tobacco)									
132778		coronary artery reactivity; lipoprotein oxidation	CARDIOVASCULAR	CARD	Coronary Disease|Arteriosclerosis|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Malin, R.  et al. 2001	11511975				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDPinfo	5444	Hs.370995			Journal of molecular medicine (Berlin, Germany). 2001 Aug;79(8):449-58	Paraoxonase gene polymorphisms and coronary reactivity in young healthy men.		168820	13185	2	2001	Genotypes of paraoxonase may not clearly contribute to the early changes in coronary reactivity. Coronary vasomotor tone at rest appears to be modulated by paraoxonase R/Q192 polymorphism through mechanism(s) unrelated to low-density lipoprotein oxidation.	Cohort 49 healthy men (mean age 35 +/- 4 years) 										
132247		rheumatoid arthritis	IMMUNE	IMM		1	1p36.13	PADI4	17507278	17563082		Hoppe, B.  et al. 2004	15338034				Peptidyl arginine deiminase, type IV	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012387.1			CDC GDPinfo	23569	Hs.522969			Journal of molecular medicine (Berlin, Germany). 2004 Nov;82(11):762-7	High variability of peptidylarginine deiminase 4 (PADI4) in a healthy white population:characterization of six new variants of PADI4 exons 2-4 by a novel haplotype-specific sequencing-based approach		605347	18797	2	2004	Our results indicate that the PADI4 gene exhibits a remarkable variability and a rather complex haplotypic organization. Further studies on disease association of PADI4 should be performed by haplotype-specific sequencing-based approaches to identify the exact genotype of the PADI4 fragment of interest.	Cohort 102 healthy white German individuals 										
132030		schizophrenia	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Lachman, H. M.  et al. 2005	16287046				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDPinfo	3084	Hs.453951			American journal of medical genetics Part B, Neuropsychiatric genetics. 2006 Jan;141(1):102-9	Analysis of polymorphisms in AT-rich domains of neuregulin 1 gene in schizophrenia.		142445	12976	2	2005												
131414	N	liver cancer	CANCER	CAN	Liver Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Zhang, X. F.  et al. 2005	15770721				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Chinese	China	CDC GDPinfo	10	Hs.2			World journal of gastroenterology. 2005 Mar;11(10):1457-62	Are polymorphisms of N-acetyltransferase genes susceptible to primary liver cancer in Luoyang, China?		243400	23087	2	2005	 The polymorphisms of NAT1 and NAT2 are not susceptible to PLC in Luoyang. Allele NAT1*10 interacts with occupational exposures.	Control:173:controls;Case:96 primary liver cancer:Luoyang, China	occupational exposures									
131227	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Dilated|Death, Sudden	11	11p11.2	MYBPC3	47309526	47330798		Shimizu, M.  et al. 2005	15671604				Myosin binding protein C, cardiac	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000256.2	Japanese	Japan	CDC GDPinfo	4607	Hs.524906			Circulation journal. 2005 Feb;69(2):150-3	Gene mutations in adult Japanese patients with dilated cardiomyopathy.		600958	18472	2	2005	 Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.	Cohort 99 unrelated Japanese adult patients with dialated cardiomyopathy (familial n=27, sporadic n=72) 										
131207		familial adenomatous polyposis	CANCER	CAN	Adenomatous Polyposis Coli|Colorectal Neoplasms|Genetic Predisposition to Disease	1	1p34.3-p32.1	MUTYH	45567500	45578729		Russell, A. M.  et al. 2005	16287072				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDPinfo	4595	Hs.271353			International journal of cancer Journal international du cancer. 2005	Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.		604933	18468	2	2005	On the basis of our findings and earlier reports, MYH mutation screening should be considered if all of the following criteria are fulfilled: (i) presence of classical or attenuated polyposis coli, (ii) absence of a pathogenic APC mutation, and (iii) a family history compatible with an autosomal recessive mode of inheritance.											
131110		colorectal cancer; folate, erythrocyte	CANCER	CAN	Colorectal Neoplasms	14	14q24	MTHFD1	63924845	63996474		Chen, J.  et al. 2004	15122597				Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005956.2			CDC GDPinfo	4522	Hs.632340			International journal of cancer. Journal international du cancer. 2004 Jul;110(4):617-20	Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study.		172460	22967	2	2004	Findings from our prospective investigation indicate that these newly identified polymorphisms in one-carbon metabolizing genes have limited functionality in modifying folate status and related CRC risk.	Case:270 incident colorectal cancer cases;Control:453:controls										
130831	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	20	20q11.2-q13.1	MMP9	44070953	44078607		Grieu, F.  et al. 2004	15609121				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDPinfo	4318	Hs.297413			Breast cancer research and treatment. 2004 Dec;88(3):197-204	Genetic polymorphisms in the MMP-2 and MMP-9 genes and breast cancer phenotype		120361	22910	2	2004	These findings suggest that breast cancer phenotype and outcome can be influenced by common functional polymorphisms in MMP genes.	Cohort 78 breast cancer patients 										
130746	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Disease Progression	11	11q22.3	MMP3	102211737	102219552		Mattey, D. L.  et al. 2004	14712311			promoter	Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3		Great Britain	CDC GDPinfo	4314	Hs.375129			Genes and immunity. 2004 Mar;5(2):147-9	Association of matrix metalloproteinase 3 promoter genotype with disease outcome in rheumatoid arthritis		185250	18319	2	2004	The data suggest that the MMP-3 6A/6A genotype is associated with worse RA outcome, and that this genotype may have an additive effect with the SE on disease severity.	Cohort 254 patients with established rheumatoid arthritis 										
130428	Y	primary hyperparathyroidism	OTHER	OTH	Hyperparathyroidism	11	11q13	MEN1	64327569	64335342		Correa P et al. 2002	12324758				Multiple endocrine neoplasia I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000244.2			KGB	4221	Hs.423348			Surgery. 2002 Sep;132(3):450-5	Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism.		131100	4497	1	2002	 We report that the MM genotype was overrepresented in pHPT patients compared with control participants, suggesting a novel marker for pHPT. Furthermore, the MM genotype was associated with higher BMD at the femoral neck and in the total body in the screening-recruited control participants.	Case sporadic primary hyperparathyroidism patients;Control:controls										
130180	Y	platelet monoamine oxidase B activity	OTHER	OTH	Bulimia	X	Xp11.23	MAOB	43510800	43626625		Damberg M et al. 2000	10984642				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			KGB	4129	Hs.46732			Neuroscience letters. 2000 Sep;291(3):204-6	The genotype of human transcription factor AP-2beta is associated with platelet monoamine oxidase B activity.		309860	4446	1	2000												
129876	Y	bone density	METABOLIC	MET	Osteoporosis	11	11q13.4	LRP5	67836683	67973319		Koay, M. A.  et al. 2004	15355556				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDPinfo	4041	Hs.6347			Journal of bone and mineral research. 2004 Oct;19(10):1619-27	Influence of LRP5 Polymorphisms on Normal Variation in BMD		603506	12237	2	2004	 These results show that common LRP5 polymorphisms contribute to the determination of BMD in the general population.	Case:152 osteoporotic probands and their families;Control:160 women with elevated bone mineral density										
129862	Y	Lp(a)	METABOLIC	MET	Coronary Disease	12	12q13-q14	LRP1	55808548	55893392		Benes, P.  et al. 2002	11931574				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1	Czech	Czech Republic	CDC GDPinfo	4035	Hs.162757			Human biology; an international record of research. 2002 Feb;74(1):129-36	The relationship among apolipoprotein(a) polymorphisms, the low-density lipoprotein receptor-related protein, and the very low density lipoprotein receptor genes, and plasma lipoprotein(A) concentration in the Czech population.		107770	22772	2	2002	In conclusion, both APOA length polymorphisms significantly influenced plasma Lp(a) concentration in the Czech population studied, and this circumstance could explain the association in this population observed earlier between APOA (TTTTA)n polymorphism and CAD (Benes et al. 2000). Only a minor role in the regulation of plasma Lp(a) levels is suggested for the C766T LRP and the (CGG)n VLDLR polymorphisms.	Cohort Czech subjects who underwent coronary angiography Cohort Czech subjects who underwent coronary angiography 										
129702		Charcot-Marie-Tooth disease	NEUROLOGICAL	NEUR	Hemorrhage	18	18q21.3-q22	LMAN1	55148087	55177461		Segal, A.  et al. 2004	15166951				Lectin, mannose-binding, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005570.2		Tunisia	CDC GDPinfo	3998	Hs.465295			Blood coagulation & fibrinolysis. 2004 Jan;15(1):99-102	A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia		601567	18054	2	2004	In view of the relatively low frequency of the mutations in the respective populations it seems reasonable to advocate carrier detection and prenatal diagnosis only in affected families.	Cohort 180 Iranian Jews Cohort 233 apparently unrelated members of an ancient Jewish community in the island of Djerba off the coast of Tunisia Tunisia Cohort 245 Iraqi Jews Cohort 259 North African Jews 										
129428	N	systemic lupus erythematosus	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	12	12p13	KLRC1	10489903	10498251	n	Hikami K et al. 2003	12618865				Killer cell lectin-like receptor subfamily C, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002259.3	Japanese		Tsuchiya N	3821	Hs.512576			Genes and immunity. 2003 Mar;4(2):160-7	Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion inthe general population.		161555	4178	1	2003	These results demonstrated that, although human NKG2-A, -C and CD94 are generally conserved with respect to amino acid sequences, NKG2-A is polymorphic in the noncoding region, and that the number of genes encoded in the human NKC is variable among individuals, as previously shown for the leukocyte receptor complex (LRC), HLA and Fcgamma receptor (FCGR) regions.	Case rheumatoid arthritis and systemic lupus erythematosus patients;Control:controls										
129110	Y	neonatal thrombocytopenia	HEMATOLOGICAL	HEM	Thrombocytopenia	17	17q21.32	ITGB3	42686206	42745076		Jallu V et al. 2002	12036875				integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000212.2			KGB	3690	Hs.218040			Blood. 2002 Jun;99(12):4449-56	A new platelet polymorphism Duv(a+) localized within the RGD binding domain of glycoprotein IIIa is associated with neonatal thrombocytopenia.		173470	4127	1	2002												
129044		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Ischemic Attack, Transient	17	17q21.32	ITGA2B	39805075	39822399		van Goor, M. L.  et al. 2002	12586134				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			Thrombosis research. 2002 Oct;108(1):63-5	PLA1/A2 polymorphism of the platelet glycoprotein receptor IIb/IIIa in young patients with cryptogenic TIA or ischemic stroke		607759	12014	2	2002	 This study does not support the association between the PIA1/A2 polymorphism and cryptogenic stroke or TIA in patients aged 45 or less.	Case:45 patients with stroke selected from a consecutive series of 80 patients aged 45 or less with a recent ischemic stroke or TIA;Control:60 healthy blood donors of similar age distribution										
129038	Y	myocardial infarction	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Hypercholesterolemia|Obesity|Diabetes Complications	17	17q21.32	ITGA2B	39805075	39822399		Reiner, A. P.  et al. 2001	11260064				Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000419.3			CDC GDPinfo	3674	Hs.411312			British journal of haematology. 2001 Mar;112(3):632-6	Platelet glycoprotein IIb polymorphism, traditional risk factors and non-fatal myocardial infarction in young women.		607759	12008	2	2001	The Ser843 variant of glycoprotein IIb may be associated with an increased risk of MI in young women with other cardiovascular risk factors. Additional studies involving larger numbers of subjects are needed to confirm this preliminary finding.	Control:346 demographically similar control subjects;Case:68 Caucasian women < 45 years old with non-fatal MI	smoking (tobacco)									
128742		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	11	11p15.5	INS	2106922	2139015		Bui MM 2004	8845059				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	USA		Y Wang	3630	Hs.89832			Journal of autoimmunity. 1996 Feb;9(1):97-103	Paternally transmitted IDDM2 influences diabetes susceptibility despite biallelic expression of the insulin gene in human pancreas		176730	4001	1	2004												
128732		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p15.5	INS	2106922	2139015		Hitman GA 87	2892607				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	Punjabi Sikhs and British Caucasoid patients	India|Great Britain	Y Wang	3630	Hs.89832			Diabetic medicine. 1987 Nov-Dec;4(6):526-30	A genetic analysis of type 2 (non-insulin-dependent) diabetes mellitus in Punjabi Sikhs and British Caucasoid patients.		176730	3991	1	1987												
128715		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11p15.5	INS	2106922	2139015		Owerbach D 2004	8243816				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2			Y Wang	3630	Hs.89832			Diabetes. 1993 Dec;42(12):1708-14	Localization of a type I diabetes susceptibility locus to the variable tandem repeat region flanking the insulin gene.		176730	3974	1	2004												
128675		Manic-depressive illness	PSYCH	PSY	Bipolar Disorder	2	2q32	INPP1	190916679	190944552		Piccardi MP et al. 2002	11901356				inositol polyphosphate-1-phosphatase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002194.2			KGB	3628	Hs.32309			Psychiatric genetics. 2002 Mar;12(1):23-7	Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes.		147263	3935	1	2002												
128498	N	Atopic dermatitis	OTHER	OTH	Dermatitis, Atopic	16	16p11.2-12.1	IL4R	27232751	27283600	n	Oiso N 2000	10809862	Glu375Ala			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Japanese	Japan	KGB	3566	Hs.513457			The British journal of dermatology. 2000 May;142(5):1003-6			147781	3722	1	2000												
128493		Asthma severity	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Rosa-Rosa L 1999	10550746	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			The Journal of allergy and clinical immunology. 1999 Nov;104(5):1008-14			147781	3717	1	1999	 Thus R576IL-4Ralpha acts as an allergic asthma susceptibility and disease-modifying gene and may serve as a clinically useful marker of asthma severity.											
128489	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity	16	16p11.2-12.1	IL4R	27232751	27283600	0.0001	Mitsuyasu H 1998	9620765	Ile50Val			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			KCB	3566	Hs.513457			Nature genetics. 1998 Jun;19(2):119-20			147781	3713	1	1998												
128475	Y	Total serum IgE	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	P=0.01	Howard TD 2001	11709756	C406R			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Dutch	Netherlands	KGB	3566	Hs.513457			American journal of human genetics. 2002 Jan;70(1):230-6			147781	3699	1	2001												
128469	N	Asthma	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600	n	Malerba G 1999	10641562	R576Q (Arg551Gln)			Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2	Italian	Italy	KCB	3566	Hs.513457			Clinical and experimental allergy. 1999 Dec;29 Suppl 4:27-30			147781	3693	1	1999												
128336	N	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Huang CM et al. 2002	12508786				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Chinese	China|Taiwan	KGB	3565	Hs.73917			Clinical and experimental rheumatology. 2002 Nov-Dec;20(6):871-2	No association of interleukin-4 gene polymorphisms in Chinese patients with rheumatoid arthritis in Taiwan.		147780	3647	1	2002												
128323	N	Atopic Eczema	IMMUNE	IMM	Dermatitis, Atopic	5	5q31.1	IL4	132037271	132046267	n	Tanaka K 2001	11678851	???? -589C/T ????			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2		Japan	KGB	3565	Hs.73917			Clinical and experimental allergy. 2001 Oct;31(10):1522-7			147780	3634	1	2001	 These results suggest that the polymorphisms in the IL-4 gene and the IL-4 receptor alpha chain gene play no role in the development of atopic eczema in patients who have normal IgE productivity.											
128311	Y	Grave`s disease	IMMUNE	IMM	Graves Disease|Thyroiditis, Autoimmune	5	5q31.1	IL4	132037271	132046267	4e-05	Hunt PJ 2000	10843185	position 590 allele reduced in GD			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			KGB	3565	Hs.73917			The Journal of clinical endocrinology and metabolism. 2000 May;85(5):1984-8			147780	3622	1	2000												
128304	N	Asthma. total IgE. SPT	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267	n	Ober C 2000	11022011	A8374G			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Hutterites	South Dakota	KCB	3565	Hs.73917			American journal of human genetics. 2000 Nov;67(5):1154-62			147780	3615	1	2000												
127755	N	Asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	X	Xq24	IL13RA1	117745586	117823487	n	Heinzmann A 2000	10699178	A1398G			interleukin 13 receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001560.2	German		KCB	3597	Hs.496646			Human molecular genetics. 2000 Mar;9(4):549-59			300119	3926	1	2000												
126724		schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Semwal, P.  et al. 2002	12532038				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Indian		CDC GDPinfo	3356	Hs.72630			Journal of genetics. 2002 Aug;81(2):65-71	Candidate gene polymorphisms among North Indians and their association with schizophrenia in a case-control study.		182135	11437	2	2002	The data generated in this study, besides providing a normative background for various disease association studies, are a significant contribution to the population-specific genome database, a currently growing requirement.	Case:536 schizophrenic cases:India;Control:936 individuals recruited from health centers and various hospitals in and around Delhi (n=255) and unaffected parents of schizophrenia cases (n=681):India										
126459		breast cancer	CANCER	CAN	Fibroadenoma|Carcinoma|Breast Neoplasms|Genetic Predisposition to Disease	17	17q11-q21	HSD17B1	37957509	37960757		Hefler, L. A.  et al. 2004	15241822				Hydroxysteroid (17-beta) dehydrogenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000413.1			CDC GDPinfo	3292	Hs.50727			Cancer. 2004 Jul;101(2):264-9	Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women.		109684	26997	2	2004	 The authors obtained the first SNP data indicating that CYP17 and CYP1A1-1 play a role in the pathogenesis of fibroadenoma. Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women.	Control:1,936 healthy control patients without breast carcinoma in their personal history;Case:396/154 Caucasian women with breast carcinoma (n=396) and patients with fibroadenoma (n=154)										
126393	Y	Lesch-Nyhan syndrome	METABOLIC	MET	Lesch-Nyhan Syndrome|Chromosome Breakage	X	Xq26.1	HPRT1	133421922	133462362		Mizunuma M et al. 2001	11668636	Alu-mediated deletion			Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000194.1			KGB	3251	Hs.412707			Human mutation. 2001 Nov;18(5):435-43	A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.		308000	3196	1	2001												
126334		lung function	OTHER	OTH	Lung Diseases|Genetic Predisposition to Disease	22	22q12	HMOX1	34107086	34120194		He, J. Q.  et al. 2002	12153964				Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDPinfo	3162	Hs.517581			American journal of respiratory and critical care medicine. 2002 Aug;166(3):323-8	Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers.		141250	26223	2	2002	None of the genotypes studied had a statistically significant effect on decline of lung function when analyzed separately. There was an association between rapid decline of lung function and presence of all three GST polymorphisms (odds ratio [OR] = 2.83; p = 0.03). A combination of a family history of chronic obstructive pulmonary disease with GSTP1 105Ile/Ile genotype was also associated with rapid decline of lung function (OR = 2.20; p = 0.01). However, due to the multiple comparisons that were made, these associations may represent type 1 error. There was no association between HMOX1 (GT)n alleles and the rate of decline in lung function in smokers.	Case:299 rapid decliners [change in forced expiratory volume in 1 second (DeltaFEV(1)) = -152 +/- 2.5 ml/year] selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study;Control:322 nondecliners [DeltaFEV(1) = +15 +/- 1.5 ml/year]) selected from among smokers followed for 5 years in the National Heart, Lung, and Blood Institute Lung Health Study	family history									
126156		hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		6	6p21.3	HLA-DQB1	32735641	32742374		Pedron, B.  et al. 2003	12665835				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Bone marrow transplantation. 2003 Mar;31(6):423-7	Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation.		604305	26141	2	2003	The use of these data to delineate search strategies is discussed.	Cohort 207 stem cell transplant patients north of France 										
126002		antiphospholipid syndrome	IMMUNE	IMM	Antiphospholipid Syndrome|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Caliz, R.  et al. 2001	11157139				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDPinfo	3119	Hs.409934			Rheumatology (Oxford, England). 2001 Jan;40(1):31-6	HLA class II gene polymorphisms in antiphospholipid syndrome: haplotype analysis in 83 Caucasoidpatients.		604305	21934	2	2001	 These alleles and haplotypes might affect anti-ss2GPI production and APS development in different and heterogeneous fashion.	Control:177 healthy controls;Case:83 Caucasoid British patients with APS										
136918		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	17	17q22-q23	TNFAIP1	23682278	23698160		Pandey, J. P.  et al. 2002	12039524				Tumor necrosis factor, alpha-induced protein 1 (endothelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021137.3			CDC GDPinfo	7126	Hs.76090			Human immunology. 2002 Jun;63(6):485-91	TNF-alpha, IL1-beta, and immunoglobulin (GM and KM) gene polymorphisms in sarcoidosis.		191161	26710	2	2002	As KM genes have been reported to be associated with immune responsiveness to several pathogens, these results may be relevant to the etiology of sarcoidosis.	Case African-American patients without erythema nodosum;Control:controls										
137045		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	1	1p36.3-p36.2	TNFRSF1B	12149646	12191864		Glossop, J. R.  et al. 2005	16277675				Tumor necrosis factor receptor superfamily, member 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001066.2			CDC GDPinfo	7133	Hs.256278			Arthritis research & therapy. 2005 ;7(6):R1227-34	Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.		191191	23761	2	2005												
137598	N	weight gain	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain	4	4q28-q31	UCP1	141700499	141709457		van Rossum, C. T.  et al. 2002	12075579				Uncoupling protein 1 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021833.3	Dutch	Netherlands	CDC GDPinfo	7350	Hs.249211			International journal of obesity and related metabolic disorders. 2002 Apr;26(4):517-28	Genetic factors as predictors of weight gain in young adult Dutch men and women.		113730	26733	2	2002	 Only variations in the ADRB2 gene and LEPR gene, may contribute to susceptibility to weight gain. None of the other studied genetic markers were clearly associated with weight gain. Further research is necessary to establish the role of lifestyle factors, or interactions between genes or between genes and lifestyle factors on weight gain with age.	Case:286 subjects aged 20-40 y who gained an average of 12.8 kg (range 5.5-47 kg) during a mean follow-up of 6.8 y from two large cohorts in The Netherlands;Control:296 subjects who remained relatively constant over the same period										
138356	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2	9	9q22	ALDRL2			n	Maeda S et al. 1999	10334324				aldehyde reductase (aldose reductase)-like 2		Japanese	Japan	KGB	233				Diabetes. 1999 Feb;48(2):420-2	Diabetic nephropathy is not associated with the dinucleotide repeat polymorphism upstream of the aldose reductase (ALR2) gene but with erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes.			495	1	1999												
138501	Y	breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	ATM	107598768	107745036		Sommer, S. S.  et al. 2002	11996792				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Cancer genetics and cytogenetics. 2002 Apr;134(1):25-32	Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls		607585	15346	2	2002	The data are compatible with certain missense mutations in ATM predisposing to breast cancer.	Case:43 breast cancer patients;Control:43 control individuals										
138516		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Frank, B.  et al. 2005	15987456				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDPinfo	472	Hs.435561			Breast cancer research. 2005 ;7(4):R502-5	TP53-binding protein variants and breast cancer risk: a case-control study.		607585	15801	2	2005	 The lack of association casts doubt on the putative effects of D353E, G412S, and K1136Q on breast cancer risk. Investigating a larger study cohort might elucidate the influence of the 6bp deletion 1347_1352delTATCCC. Studying the functional effect and the impact of this variant on the risk of other cancers may be revealing.											
138608	N	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	7	7q34	BRAF	140080751	140271033		Edwards RH 2004	15060100				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			KGB	673	Hs.550061			Journal of medical genetics. 2004 Apr;41(4):270-2	Absence of BRAF mutations in UV-protected mucosal melanomas.		164757	6884	1	2004												
140272	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.5	IDDM2				Walter, M.  et al. 2003	12750767				insulin-dependent diabetes mellitus 2			Germany	CDC GDPinfo	3401				Diabetologia. 2003 May;46(5):712-20	IDDM2/insulin VNTR modifies risk conferred by IDDM1/HLA for development of Type 1 diabetes and associated autoimmunity.		125852	22310	2	2003	Combining IDDM1 and IDDM2 genotyping identifies a minority of children with an increased T1D risk.	Case:488/1,122 type 1 diabetic patients (n=488) and offspring of parents with type 1 diabetes (n=1,122);Control:846 control subjects										
140714		Obesity	METABOLIC	MET	Obesity	1	1p31	LEPR	65658905	65875410		Matsukoka N 1997	9349603	PCR- RFLP and PCR- single strand			Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3	Japanese	Japan	TJB	3953	Hs.23581			Diabetologia. 1997 Oct;40(10):1204-10			601007	7276	1	1997		Case:47; Control:68										
141769		spinocerebellar ataxia	NEUROLOGICAL	NEUR	Spinocerebellar Ataxias	13	13q21	ATXN8OS	69579345	69611685		Brusco, A.  et al. 2004	15148151				kelch-like 1 antisense		Italian	Italy	CDC GDPinfo	6315	Hs.569285			Archives of neurology. 2004 May;61(5):727-33	Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxiagenes and CAG/CTG repeat expansion detection in 225 Italian families.		603680	27785	2	2004	 The distribution of SCA1-3 and SCA6-7 gene mutations is peculiar in Italy. We found a relatively high frequency of SCA1 and SCA2 gene expansions; SCA3, SCA6, and SCA7 mutations were rare, compared with other European countries. No SCA10 or SCA12 and only a few SCA8 (2/225) and SCA17 (2/225) families were detected. In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype.	Cohort 225 unrelated Italian index cases with hereditary ataxia, most (n = 183) of whom presented with a clear dominantly transmitted trait Italy 										
142261	Y	coronary heart disease.	CARDIOVASCULAR	CARD	Coronary Disease			APOA				Kalina A et al. 2001	11408005								KGB					Clinica chimica acta; international journal of clinical chemistry. 2001 Jul;309(1):45-51	The association of serum lipoprotein(a) levels apolipoprotein(a) size and (TTTTA)(n) polymorphism with coronary heart disease.			7610	1	2001	 Nevertheless, these results indicate that in CHD patients the (TTTTA)(n) polymorphism has an effect on Lp(a) levels which is independent of the apo(a) size.											
142507	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	6	6p21.3	HLA-DQB1	32735641	32742374		Singal DP et al. 1987	2890022	DQw3.1				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Lancet. 1987 Nov;2(8568):1118-20	HLA-DQ beta-chain polymorphism in HLA-DR4 haplotypes associated with rheumatoid arthritis.		604305	7872	1	1987												
142583		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Herr M et al. 2000	10814711				major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Human molecular genetics. 2000 May;9(9):1291-301	Evaluation of fine mapping strategies for a multifactorial disease locus: systematic linkage and association analysis of IDDM1 in the HLA region on chromosome 6p21.		604305	7948	1	2000												
142841		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-ND1				Crispim, D.  et al. 2002	12100083							Brazil	CDC GDPinfo					Clinical endocrinology. 2002 Jul;57(1):141-2	Prevalence of three mitrochondrial DNA mutations in type 2 diabetic patients from southern Brazil		516000	18431	2	2002	In conclusion, the mt3243, mt3316 and mt3394 mutations accounted for only a small proportion of type 2 diabetes in our study and it is unlikely that these mutations are in themselves the cause of this disease. However, further studies will be aimed at investigaating the prevalence of other mitochondrial DNA mutations in diabetes mellitus.	Case:295 unrelated type 2 diabetic patients (231 Caucasians and 64 African-Brazilians) southern Brazil;Control:460 blood donors (305 Caucasian and 155:African-Brazilians)										
142850		diabetes, type 2; diabetes, type 1	OTHER	OTH	Diabetes Mellitus, Type 2|Autoimmune Diseases|Diabetes Mellitus, Type 1	M		MT-TL1				Cui, C.  et al. 2002	12906157						Chinese		CDC GDPinfo					Chinese medical sciences journal. 2002 Jun;17(2):73-6	Study on the relationship between mitochondrial gene mutation and latent autoimmune diabetes mellitus in adults.		590050	18440	2	2002	 The A3243G mutation of mt DNA might not be related to the onset of LADA in diabetic population of Han nationality in northeast area of China and there might not be close relationship between A3243G mutation of mt DNA and autoimmunity.	Cohort 79 diabetics of Han nationality, whose families have resided in the northeast area of China for more than 3 generations northeast area of China 										
142853		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	M		MT-TL1				Zhang, X.  et al. 2004	15079803						Chinese		CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2004 Apr;21(2):168-70	[Study on mitochondrial DNA gene tRNA(Leu(UUR)) A3243G mutation in type 2 diabetes mellitus]		590050	18443	2	2004	 The prevalence of the mitochondrial gene A3243G mutation is 0.47% in DM2 patients in China. The data acquired in this study suggest that the clinical phenotype of these patients with A3243G should be heterogeneous.	Control:188 healthy controls;Case:428 type 2 diabetic patients										
142874		diabetes, type 2	METABOLIC	MET		M		MT-RNR1				Tang, D.  et al. 2005	16331560								CDC GDPinfo					Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):636-40	[Association of mitochondrial DNA variation with type 2 diabetes mellitus.]		561000	23034	2	2005	 The mutations of 3394 (T-->C) and 14693 (A-->G) may contribute to the genetic predisposition to type 2 diabetes; 16189 (T-->C) variant is associated with insulin resistance and risk factor of diabetes.											
142877		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	M		MT-TL1				Chen, S.  et al. 2002	12151350						Chinese	China	CDC GDPinfo					Carcinogenesis. 2002 Aug;23(8):1321-5	DNA repair gene XRCC1 and XPD polymorphisms and risk of lung cancer in a Chinese population.		590050	23048	2	2002	Our results suggested that the genotypes of XRCC1 194Trp/Trp and XPD 751 Lys allele might be the risk genotypes for lung cancer in Chinese population.	Case:109 Chinese lung cancer patients;Control:109 healthy Chinese control subjects (individually matched on age and gender)	smoking (tobacco)									
142941	Y	asthma	IMMUNE	IMM	Asthma	7	7p14-p12	AOAH	36519133	36730550	.006	Barnes et al 2006	16815140				acyloxyacyl hydrolase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=Nucleotide&dopt=GenBank&val=4502114	Barbados		KGB	313	Hs.488007		tIgE levels, IL13/IFNg ratio, soluble CD14 levels.	The Journal of allergy and clinical immunology. 2006 Jul;118(1):70-7	Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes.	AOAH rs2727831	102593			2006	 Our results indicate that polymorphisms in markers within the AOAH gene are associated with risk of asthma and associated quantitative traits (IgE and cytokine levels) among asthmatic subjects and their families in Barbados, and there is an interactive effect on tIgE and asthma concentrations between an AOAH marker and the functional CD14(-260)C >T polymorphism. CLINICAL IMPLICATIONS: AOAH is a novel innate immunity candidate gene associated with asthma and related phenotypes in an African ancestry population.	834 African Caribbean		AOAH	rs2727831	CD14	-260 C>T					
142487	Y	papillomavirus infection	INFECTION	INF	Papillomavirus Infections|Tumor Virus Infections|Cervical Intraepithelial Neoplasia|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Lie AK et al. 1999	12090587	DQB1*0301				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Norway	KGB	3119	Hs.409934	cervical intraepithelial neoplasia		International journal of gynecological pathology. 1999 Jul;18(3):206-10	Association between the HLA DQB1*0301 gene and human papillomavirus infection in high-grade cervical intraepithelial neoplasia.		604305	7852	1	1999			human papillomavirus									
143083	Y	Autoimmune hepatitis type 1	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA	29903802	30085613	0.0001	Shankarkumar U, et al. 2005	15683420			coding sequence			western India	India	Dr.U.Shankarkumar			A*0222, A*3201, A*680102, B*35, B*5501, Cw*0102, Cw*070101, DRB1*0301, DRB1*1301, DRB1*1501		Journal of gastroenterology and hepatology. 2005 Feb;20(2):193-7	Human Leukocyte antigen allele assocition in type-1 autoimmune hepatitis patients from Western India					2005	 The present study indicates that the HLA susceptibility to type 1 AIH in the different populations studied is complex.	Report of novel HLA allele associtions in type-1 autoimmune hepatitis from India										
114664		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Jin, J.  et al. 2005	16331555				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese		CDC GDPinfo	5243	Hs.489033			Zhonghua yi xue yi chuan xue za zhi. 2005 Dec;22(6):616-20	[Impact of multidrug resistance 1 gene polymorphism on tacrolimus dose and concentration-to-dose ratio in Chinese liver transplantation recipients.]		171050	8265	2	2005	 Tacrolimus dose requirement and dose-adjusted trough levels were correlated with MDR1 3435 (C-->T) polymorphism, and MDR1 3435 (C-->T) polymorphism analysis is helpful to individualize tacrolimus administration.											
136523	N	preeclampsia.	REPRODUCTION	REP	Pre-Eclampsia	6	6p21.3	TNF	31651328	31654091	n	Dizon-Townson DS et al. 1998	9616877			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			KGB	7124	Hs.241570			Journal of reproductive immunology. 1998 Apr;38(1):55-61	A promoter mutation in the tumor necrosis factor alpha gene is not associated with preeclampsia.		191160	5999	1	1998	The frequency of the TNF T2 allele is not increased in patients with preeclampsia or HELLP syndrome. Therefore, this promoter mutation is probably not a major genetic cause of preeclampsia. As more genes are cloned, sequenced and localized, this will enable investigators to take this candidate gene approach to investigate potential genetic causes of preeclampsia.											
122014		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		Zhang, X. T.  et al. 2005	15956035				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Chinese	China	CDC GDPinfo	1956	Hs.488293			Annals of oncology. 2005 Aug;16(8):1334-42	The EGFR mutation and its correlation with response of gefitinib in previously treated Chinese patients with advanced non-small-cell lung cancer.		131550	16470	2	2005	 Gefitinib demonstrated significant antitumor activity with a favorable toxicity profile for pretreated Chinese patients with advanced NSCLC. The active mutation of the EGFR kinase domain was strongly associated with response to gefitinib and prolonged overall survival.		gefitinib									
142433	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Felty's Syndrome	6		HLA	29903802	30085613		Sansom DM et al. 1987	2445715								KGB					Human immunology. 1987 Aug;19(4):269-78	HLA DQ alpha and DQ beta restriction fragment length polymorphisms associated with Felty's syndrome and DR4-positive rheumatoid arthritis.			7798	1	1987	We conclude that  both DQ alpha and DQ beta genes may be important in determining HLA-linked susceptibility to severe forms of RA.											
142541	Y	endometriosis	REPRODUCTION	REP	Endometriosis	6	6p21.3	HLA-DPB1	33151737	33162954		He YL et al. 2002	12390706					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4	Chinese	China	KGB	3115	Hs.485130			Di yi jun yi da xue xue bao. 2002 May;22(5):432-3	Association of HLA-DPB1 gene with endometriosis in women of Guangdong Province in China.		142858	7906	1	2002	 HLA-DPB1 allele may not be related to endometriosis.											
122649		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Casas, J. P.  et al. 2004	15534175				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDPinfo	2162	Hs.335513			Archives of neurology. 2004 Nov;61(11):1652-61	Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately18,000 cases and 58,000 controls.		134570	24381	2	2004	There is a genetic component to common stroke. No single gene with major effect was identified; rather, common variants in several genes, each exerting a modest effect, contribute to the risk of stroke. These findings have important implications for the design of future genetic studies and for predictive genetic testing for stroke and other multifactorial diseases.	Case cases from 120 studies;Control control from 120 studies										
137104		infertility, male	REPRODUCTION	REP	Infertility, Male	2	2q35-q36	TNP1	217432426	217433027		Miyagawa, Y.  et al. 2005	16291974				Transition protein 1 (during histone to protamine replacement)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003284.2			CDC GDPinfo	7141	Hs.3017			Journal of andrology. 2005 Nov-Dec;26(6):779-86	Single-Nucleotide Polymorphisms and Mutation Analyses of the TNP1 and TNP2 Genes of Fertile and Infertile Human Male Populations.		190231	14435	2	2005												
143544	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	12	12p13.3-p12.3	A2M	9111570	9159825		Mariani, E.  et al. 2006	16784755				Alpha-2-macroglobulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000014.4			CDC GDP info	2	Hs.212838			J Neurol Sci    2006	Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer's disease		103950		CDC	2006												
143548	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	9	9q31.1	ABCA1	106583104	106730257		Sundar, P. D.  et al. 2006	16725228				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Neurobiol Aging    2006	Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease		600046		CDC	2006												
143553	N	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Coronary Disease	9	9q31.1	ABCA1	106583104	106730257		Miller, M.  et al. 2006	17113061				ATP-binding cassette, sub-family A (ABC1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005502.2			CDC GDP info	19	Hs.429294			Clin Chim Acta    2006	Do mutations causing low HDL-C promote increased carotid intima-media thickness?		600046		CDC	2006	Genetic variants identified in the present study may be insufficient to promote early carotid atherosclerosis.											
143584	N	simvastatin pharmacokinetics talinol pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500			16542205				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Br J Clin Pharmacol    2006    61(4)    440-50	Simvastatin does not influence the intestinal P-glycoprotein and MPR2, and the disposition of talinolol after chronic medication in healthy subjects genotyped for the ABCB1, ABCC2 and SLCO1B1 polymorphisms		171050		CDC	2006	Simvastatin does not influence the intestinal expression of P-gp and MRP2 in man. There was no pharmacokinetic interaction between talinolol and simvastatin during their chronic co-administration to healthy subjects.											
143599		tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Akbas, S. H.  et al. 2006	16797284				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Turkish		CDC GDP info	5243	Hs.489033			Transplant Proc    2006    38(5)    1290-2	The Effect of MDR1 (ABCB1) Polymorphism on the Pharmacokinetic of Tacrolimus in Turkish Renal Transplant Recipients		171050		CDC	2006												
143611		rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	7	7q21.1	ABCB1	86970883	87180500		Drozdzik, M.  et al. 2006	16932953				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Eur J Clin Pharmacol    2006	The effect of 3435C>T MDR1 gene polymorphism on rheumatoid arthritis treatment with disease-modifying antirheumatic drugs		171050		CDC	2006	The results from the present study suggest that the 3435C>T MDR1 gene polymorphism may influence the efficacy of RA therapy with disease-modifying antirheumatic drugs.		methotrexate sulfasalazine									
143638		gefitinib toxicity	PHARMACOGENOMIC	PHARM	Neoplasms|Diarrhea	7	7q21.1	ABCB1	86970883	87180500		Cusatis, G.  et al. 2006	17148776				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			J Natl Cancer Inst    2006    98(23)    1739-42	Pharmacogenetics of ABCG2 and Adverse Reactions to Gefitinib		171050		CDC	2006												
143676		ciclosporin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	ABCB1	86970883	87180500		Fredericks, S.  et al. 2007	17425754				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Clin Transplant    2007    21(2)    252-7	Multi-drug resistance gene-1 (MDR-1) haplotypes and the CYP3A5*1 genotype have no influence on ciclosporin dose requirements as assessed by C0 or C2 measurements		171050		CDC	2007												
143687	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy	7	7q21.1	ABCB1	86970883	87180500		Kwan, P.  et al. 2007	17521963				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3	Chinese;Caucasian		CDC GDP info	5243	Hs.489033			Epilepsy Behav    2007	Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese		171050		CDC	2007												
143695	Y	breast cancer	CANCER	CAN	Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	7	7q21.1	ABCB1	86970883	87180500		Zubor, P.  et al. 2007	17549370				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Oncol Rep    2007    18(1)    211-7	A polymorphism C3435T of the MDR-1 gene associated with smoking or high body mass index increases the risk of sporadic breast cancer in women		171050		CDC	2007			body mass smoking (tobacco)									
143699		breast cancer	CANCER	CAN	Breast Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	7	7q21.1	ABCB1	86970883	87180500		Turgut, S.  et al. 2007	17560460				ATP-binding cassette, sub-family B (MDR/TAP), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000927.3			CDC GDP info	5243	Hs.489033			Arch Med Res    2007    38(5)    539-44	MDR1 C3435T Polymorphism in Patients with Breast Cancer		171050		CDC	2007	Results of the present study demonstrated a 1.											
143721		irinotecan-related diarrhea	PHARMACOGENOMIC	PHARM	Diarrhea	10	10q24	ABCC2	101532492	101601571		de Jong, F. A.  et al. 2007	17185998				ATP-binding cassette, sub-family C (CFTR/MRP), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000392.1	Caucasian		CDC GDP info	1244	Hs.368243			Clin Pharmacol Ther    2007    81(1)    42-9	Irinotecan-induced Diarrhea		601107		CDC	2007												
143728	Y	pseudoxanthoma elasticum	OTHER	OTH	Pseudoxanthoma Elasticum	16	16p13.1	ABCC6	16150922	16224838		Schulz, V.  et al. 2006	16835894			promoter	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001171.2	German		CDC GDP info	368	Hs.442182			Hum Mutat    2006    27(8)    831	Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)		603234		CDC	2006												
143733		diabetes, type 2 insulin	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2|Glucose Intolerance|Disease Progression|Genetic Predisposition to Disease	11	11p15.1	ABCC8	17371007	17455025		Florez, J. C.  et al. 2007	17259403				ATP-binding cassette, sub-family C (CFTR/MRP), member 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000352.2			CDC GDP info	6833	Hs.54470			Diabetes    2007    56(2)    531-6	Type 2 Diabetes-Associated Missense Polymorphisms KCNJ11 E23K and ABCC8 A1369S Influence Progression to Diabetes and Response to Interventions in the Diabetes Prevention Program		600509		CDC	2007	the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT.		metformin									
143746		immunosuppression, chemotherapy induced	PHARMACOGENOMIC	PHARM	Opportunistic Infections	4	4q22	ABCG2	89230439	89371498		Erdelyi, D. J.  et al. 2007	17434155				ATP-binding cassette, sub-family G (WHITE), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004827.2			CDC GDP info	9429	Hs.480218			Cell Immunol    2007	The role of ABC-transporter gene polymorphisms in chemotherapy induced immunosuppression, a retrospective study in childhood acute lymphoblastic leukaemia		603756		CDC	2007												
143774	Y	ulcerative colitis	PHARMACOGENOMIC	PHARM	Colitis, Ulcerative	7	7q34-q36	ABP1	150157001	150189312		Garcia-Martin, E.  et al. 2006	16489678				Amiloride binding protein 1 (amine oxidase (copper-containing))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX648159			CDC GDP info	26	Hs.647097			World J Gastroenterol    2006    12(4)    615-20	Severity of ulcerative colitis is associated with a polymorphism at diamine oxidase gene but not at histamine N-methyltransferase gene		104610		CDC	2006	The His645Asp polymorphism of the histamine metabolising enzyme ABP1 is related to severity of ulcerative colitis.		immunosuppressive agents									
143786	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935			16420563				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2		United States	CDC GDP info	1636	Hs.298469			J Thromb Haemost    2006    4(2)    341-8	Multi-locus candidate gene polymorphisms and risk of myocardial infarction		106180		CDC	2006	After correction for multiple comparisons, the addition of genetic information observed in the present study had little impact on risk prediction models for MI.											
143828	Y	heart failure	CARDIOVASCULAR	CARD	Cardiac Output, Low|Myocardial Ischemia|Myocardial Infarction	17	17q23	ACE	58908165	58952935			17326392				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2	Russian	Bashkiria	CDC GDP info	1636	Hs.298469			Genetika    2006    42(12)    1712-7	Association of polymorphic markers I/D of gene ACE and A1166C of gene AT2R1 with ischemic chronic heart failure in the Russian and Tatar populations of Bashkortostan Republic		106180		CDC	2006												
143832	N	left ventricular remodeling	CARDIOVASCULAR	CARD	Myocardial Infarction	17	17q23	ACE	58908165	58952935		Bauters, C.  et al. 2007	17383306				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000789.2			CDC GDP info	1636	Hs.298469			Am Heart J    2007    153(4)    641-8	A prospective evaluation of left ventricular remodeling after inaugural anterior myocardial infarction as a function of gene polymorphisms in the renin-angiotensin-aldosterone, adrenergic, and metalloproteinase systems		106180		CDC	2007												
143845	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Metabolic Syndrome X|Genetic Predisposition to Disease	X	Xp22	ACE2	15489076	15530199		Zhong, J.  et al. 2006	16459167				Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021804.1			CDC GDP info	59272	Hs.178098			J Lab Clin Med    2006    147(2)    91-5	Association of angiotensin-converting enzyme 2 gene A/G polymorphism and elevated blood pressure in Chinese patients with metabolic syndrome		300335		CDC	2006												
143854	N	schizoaffective disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q31	ACSL6	131170738	131375769		Chowdari, K. V.  et al. 2006	16827919				Acyl-CoA synthetase long-chain family member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020644			CDC GDP info	23305	Hs.14945			Genes Brain Behav    2006	DNA pooling				CDC	2006	we propose a multi-stage method for comprehensive, rapid, efficient and economical genetic association analysis that enables simultaneous SNP detection and allele frequency estimation in large samples. This strategy may be particularly useful for research groups lacking access to high throughput genotyping facilities. Our analyses did not yield convincing evidence for associations of schizophrenia with ACSL6 or SIRT5.											
143858		endurance performance	NORMALVARIATION	NV		11	11q13-q14	ACTN3	66070966	66087373		Lucia, A.  et al. 2006	16612741				Actinin, alpha 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001104.1	Caucasian;European		CDC GDP info	89	Hs.445037			Int J Sports Med    2006	ACTN3 Genotype in Professional Endurance Cyclists		102574		CDC	2006												
143864		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Telangiectasia, Hereditary Hemorrhagic	12	12q11-q14	ACVRL1	50587468	50603412		Lesca, G.  et al. 2006	16705692				Activin A receptor type II-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000020.1	French	France	CDC GDP info	94	Hs.591026			Hum Mutat    2006    27(6)    598	Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients		601284		CDC	2006												
143876	Y	asthma	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	20	20p13	ADAM33	3596617	3610738		Noguchi, E.  et al. 2006	16650044				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2			CDC GDP info	80332	Hs.173716			Clin Exp Allergy    2006    36(5)    602-8	ADAM33 polymorphisms are associated with asthma susceptibility in a Japanese population		607114		CDC	2006	Our results confirm the involvement of ADAM33 in the development of childhood asthma among the Japanese.											
143882	Y	asthma	IMMUNE	IMM		20	20p13	ADAM33	3596617	3610738		Qiu, Y. M.  et al. 2007	17545039				ADAM metallopeptidase domain 33	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_025220.2	German		CDC GDP info	80332	Hs.173716			Nan Fang Yi Ke Da Xue Xue Bao    2007    27(4)    485-7	Association between ADAM33 gene polymorphism and bronchial asthma in South China Han population		607114		CDC	2007	The polymorphism of T(1) locus allele in ADAM33 gene is associated with the susceptibility to asthma in South China Han population.											
143885		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	18	18p11	ADCYAP1	895386	901052		Cunningham, S.  et al. 2006	17175032				Adenylate cyclase activating polypeptide 1 (pituitary)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001117.2	Irish;Sardinian		CDC GDP info	116	Hs.592343			J Neuroimmunol    2006	The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis		102980		CDC	2006												
143888	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	4	4p16.3	ADD1	2815374	2901587		Marcun Varda, N.  et al. 2006	16497648				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2	Caucasian		CDC GDP info	118	Hs.183706			Acta Paediatr    2006    95(3)    353-8	Polymorphisms in four candidate genes in young patients with essential hypertension		102680		CDC	2006	they do not confer a significantly increased risk of the development of EH in the Slovenian population of hypertensive children.											
143893		blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	4	4p16.3	ADD1	2815374	2901587		Schelleman, H.  et al. 2006	16724011				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			Eur J Hum Genet    2006	The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure		102680		CDC	2006			ACE inhibitor beta blockers calcium channel blocker diuretic therapy									
143901		hematology indices	HEMATOLOGICAL	HEM	Hypertension|Genetic Predisposition to Disease	4	4p16.3	ADD1	2815374	2901587		Richart, T.  et al. 2007	17301826				Adducin 1 (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014189.2			CDC GDP info	118	Hs.183706			J Hum Hypertens    2007	Intra-erythrocyte cation concentrations in relation to the C1797T beta-adducin polymorphism in a general population		102680		CDC	2007												
143913		medicamentosa-like dermatitis, trichloroethylene	OTHER	OTH		4	4q21-q23	ADH1B	100446551	100461581		Li, H. S.  et al. 2006	16758956				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Wei Sheng Yan Jiu    2006    35(2)    149-51	Polymorphisms of aldehyde and alcohol dehydrogenase genes associated with susceptibility to trichloroethylene-induced medicamentosa-like dermatitis		103720		CDC	2006	The active ALDH2 might be one of the factors influencing the individual susceptibility to TCE-induced medicamentosa-like dermatitis.											
143919	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	4	4q21-q23	ADH1B	100446551	100461581		Cox, A. et al  et al. 2007	17293864				Alcohol dehydrogenase IB (class I), beta polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX641105			CDC GDP info	125	Hs.4			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		103720		CDC	2007												
143929	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21-q23	ADH1C	100476671	100492940		Montane-Jaime, K.  et al. 2006	17134660	ADH1C*2 allele			Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3	Indian		CDC GDP info	126	Hs.4			Alcohol    2006    39(2)    81-6	ADH1C*2 allele is associated with alcohol dependence and elevated liver enzymes in Trinidad and Tobago		103730		CDC	2006												
143933		alcohol consumption blood pressure, arterial cholesterol, HDL heart disease, ischemic	CHEMDEPENDENCY	CHEM		4	4q21-q23	ADH1C	100476671	100492940		Ebrahim, S.  et al. 2007	17379229				Alcohol dehydrogenase 1C (class I), gamma polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000668.3			CDC GDP info	126	Hs.4			Atherosclerosis    2007	Alcohol dehydrogenase type 1C (ADH1C) variants, alcohol consumption traits, HDL-cholesterol and risk of coronary heart disease in women and men		103730		CDC	2007												
143949		adiponectin metabolic syndrome	METABOLIC	MET	Metabolic Syndrome X	3	3q27	ADIPOQ	188043156	188058946		Heid, I. M.  et al. 2006	16443770				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Caucasian		CDC GDP info	9370	Hs.80485			Diabetes    2006    55(2)    375-84	Genetic Architecture of the APM1 Gene and Its Influence on Adiponectin Plasma Levels and Parameters of the Metabolic Syndrome in 1,727 Healthy Caucasians		605441		CDC	2006												
143952	Y	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	3	3q27	ADIPOQ	188043156	188058946			16545001				adiponectin, C1Q and collagen domain containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004797.2	Finnish		CDC GDP info	9370	Hs.80485			Genet Test    2006    10(1)    35-9	Adiponectin gene haplotype is associated with preeclampsia		605441		CDC	2006												
144003		anxiety response	PHARMACOGENOMIC	PHARM		22	22q11.23	ADORA2A	23143708	23168325		Hohoff, C.  et al. 2005	16118787				Adenosine A2a receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000675.3			CDC GDP info	135	Hs.197029			Am J Med Genet B Neuropsychiatr Genet    2005    139(1)    42-4	Interindividual variation in anxiety response to amphetamine		102776		CDC	2005			amphetamine									
144009	N	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	8	8p21-p11.2	ADRA1A	26661583	26778839		Lane, H. Y.  et al. 2006	16633140				Adrenergic, alpha-1A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000680			CDC GDP info	148	Hs.52931			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		104219		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
144016	Y	left ventricular fractional shortening	PHARMACOGENOMIC	PHARM		20	20p13	ADRA1D	4149815	4177659		Nonen, S.  et al. 2007	17404580				Adrenergic, alpha-1D-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000678.2			CDC GDP info	146	Hs.557			Pharmacogenomics J    2007	Polymorphisms of norepinephrine transporter and adrenergic receptor alpha(1D) are associated with the response to beta-blockers in dilated cardiomyopathy		104219		CDC	2007			beta blockers									
144033		weight loss	PHARMACOGENOMIC	PHARM	Obesity|Weight Loss	10	10q24-q26	ADRA2A	112826910	112830560		Vazquez Roque, M. I.  et al. 2007	17544870				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Clin Gastroenterol Hepatol    2007	Alteration of Gastric Functions and Candidate Genes Associated With Weight Reduction in Response to Sibutramine		104210		CDC	2007	Weight reduction with sibutramine is associated with$$$ altered gastric functions and increased peptide YY and is significantly associated with SLC6A4 genotype.		sibutramine									
144048		autonomic nervous system function	NEUROLOGICAL	NEUR		4	4p16	ADRA2C	3738093	3740051		Matsunaga, T.  et al. 2006	17075692				Adrenergic, alpha-2C-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000683.3			CDC GDP info	152	Hs.123022			J Hum Genet    2006	Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population		104250		CDC	2006												
144056	N	heart failure	PHARMACOGENOMIC	PHARM	Heart Failure	10	10q24-q26	ADRB1	115793795	115796657		Yu, W. P.  et al. 2006	17217681				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1			CDC GDP info	153	Hs.642658			Zhonghua Xin Xue Guan Bing Za Zhi    2006    34(9)    776-80	Beta1-adrenergic receptor (Arg389Gly) polymorphism and response to bisoprolol in patients with chronic heart failure		109630		CDC	2006	There was no difference in the prevalence of the three genotypes between healthy and CHF subjects.		bisoprolol									
144059	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	10	10q24-q26	ADRB1	115793795	115796657		Yamada, Y.  et al. 2007	17334644				Adrenergic, beta-1-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000684.1		Japan	CDC GDP info	153	Hs.642658			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		109630		CDC	2007												
144071		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	5	5q31-q32	ADRB2	148186348	148188381		Brogger, J.  et al. 2006	16585076				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3	Caucasian		CDC GDP info	154	Hs.591251			Eur Respir J    2006    27(4)    682-8	Genetic association between COPD and polymorphisms in TNF, ADRB2 and EPHX1		109690		CDC	2006	the present data and meta-analysis support a role for microsomal epoxide hydroxylase in the aetiology of chronic obstructive pulmonary disease.											
144079	N	blood pressure, arterial	CARDIOVASCULAR	CARD	Acromegaly|Hypertension	5	5q31-q32	ADRB2	148186348	148188381		Mulatero, P.  et al. 2006	17003099				Adrenergic, beta-2-, receptor, surface	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000024.3			CDC GDP info	154	Hs.591251			J Clin Endocrinol Metab    2006	CYP11B2 -344T/C GENE POLYMORPHISM AND BLOOD PRESSURE IN PATIENTS WITH ACROMEGALY		109690		CDC	2006	We have shown an association of the -344T/C CYP11B2 gene polymorphism with BP in patients affected by acromegaly. These findings suggest that the RAAS is implicated in the pathogenesis of hypertension in acromegaly.											
144100	N	obesity	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Mergen, H.  et al. 2006	17124363				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Endocr J    2006	LEPR, ADBR3, IRS-1 and 5-HTT Genes Polymorphisms do not Associate with Obesity		109691		CDC	2006												
144102		body mass	METABOLIC	MET	Obesity	8	8p12-p11.2	ADRB3	37939672	37943341		Bouchard, L.  et al. 2007	17299381				Adrenergic, beta-3-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000025.1			CDC GDP info	155	Hs.2549			Int J Obes (Lond)    2007	Contribution of several candidate gene polymorphisms in the determination of adiposity changes		109691		CDC	2007	This study suggests that models including genetic information from several candidate gene polymorphisms can significantly contribute to the changes in adiposity over time, that different genes may act at different ages and that genetic information could be useful for the identification of individuals at high risk for gaining body fat over time.											
144106	N	bipolar disorder	PSYCH	PSY	Bipolar Disorder	22	22q11|22q12.1	ADRBK2	24290945	24449916		Prata, D. P.  et al. 2006	17106420				Adrenergic, beta, receptor kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005160	Scottish		CDC GDP info	157	Hs.657494			Psychiatr Genet    2006    16(6)    229-230	Bipolar 1 disorder is not associated with the RGS4, PRODH, COMT and GRK3 genes		109636		CDC	2006	we could not find evidence of association between RGS4, PRODH, COMT and GRK3 genes and bipolar affective disorder 1 in the Scottish population.											
144123	N	peritoneal transport	RENAL	REN	Kidney Diseases	1	1q42-q43	AGT	228904891	228916564		Akcay, A.  et al. 2006	16741369				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Nephron Clin Pract    2006    104(1)    c41-c46	Relationship of ENOS and RAS Gene Polymorphisms to Initial Peritoneal Transport Status in Peritoneal Dialysis Patients		106150		CDC	2006	Modulation of the nitric oxide activity via the ENOS a/b polymorphism may have a considerable effect on the basal peritoneal permeability.											
144125		autonomic nervous system function	NEUROLOGICAL	NEUR		1	1q42-q43	AGT	228904891	228916564		Nishikino, M.  et al. 2006	16954165				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			J Clin Endocrinol Metab    2006	Genetic Variation in the Renin-Angiotensin System and Autonomic Nervous System Function in Young Healthy Japanese Subjects		106150		CDC	2006	Cardiac autonomic function can be modulated by genetic variation in the RAS even in young and healthy states.											
144131	N	heart failure	CARDIOVASCULAR	CARD	Death, Sudden, Cardiac|Heart Failure	1	1q42-q43	AGT	228904891	228916564		Shin, J.  et al. 2007	17223428				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Am J Cardiol    2007    99(2)    250-5	Relation of beta(2)-Adrenoceptor Haplotype to Risk of Death and Heart Transplantation in Patients With Heart Failure		106150		CDC	2007	ADRB2 Arg16Gln27 haplotype may significantly increase the risk of adverse outcomes in patients with HF receiving contemporary HF pharmacotherapy.											
144136		hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Pre-Eclampsia	1	1q42-q43	AGT	228904891	228916564		Benedetto, C.  et al. 2007	17520398				Angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000029.2			CDC GDP info	183	Hs.19383			Acta Obstet Gynecol Scand    2007    86(6)    678-82	Synergistic effect of renin-angiotensin system and nitric oxide synthase genes polymorphisms in pre-eclampsia		106150		CDC	2007												
144144		nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Renal Insufficiency, Chronic|Diabetes Mellitus, Type 2	3	3q21-q25	AGTR1	149898347	149943480		Prasad, P.  et al. 2006	16672053				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Indian;Asian	India	CDC GDP info	185	Hs.477887			BMC Med Genet    2006    7(1)    42	Chronic renal insufficiency among Asian Indians with Type 2 diabetes		106165		CDC	2006	SNPs Met235Thr in angiotensinogen, T>C (-344) in aldosterone synthase, and G>A (-1903) in chymase genes are significantly associated with diabetic chronic renal insufficiency in Indian patients and warrant replication in larger sample sets. Use of such markers for prediction of susceptibility to diabetes specific renal disease in the ethnically Indian popula											
144150		PAI-1 levels tissue plasminogen activator	METABOLIC	MET		3	3q21-q25	AGTR1	149898347	149943480		Asselbergs, F. W.  et al. 2007	17207964				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3			CDC GDP info	185	Hs.477887			Genomics    2007	Epistatic effects of polymorphisms in genes from the renin-angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels		106165		CDC	2007												
144153	N	left ventricular mass myocardial infarct	CARDIOVASCULAR	CARD	Hypertrophy, Left Ventricular|Myocardial Infarction	3	3q21-q25	AGTR1	149898347	149943480		Goracy, J.  et al. 2006	17274465				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	Polish		CDC GDP info	185	Hs.477887			Pol Arch Med Wewn    2006    115(2)    105-11	Allelic variants of genes		106165		CDC	2006	Our results suggest that polymorphisms of the ACE, AT1R and MTHFR genes do not predispose to myocardial infarction and higher left ventricular mass in the Polish population.											
144159		myocardial infarct stroke	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension	3	3q21-q25	AGTR1	149898347	149943480		Marciante, K. D.  et al. 2007	17522061				Angiotensin II receptor, type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000685.3	European		CDC GDP info	185	Hs.477887			Am J Epidemiol    2007	Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients		106165		CDC	2007												
144168		autonomic nervous system function	NEUROLOGICAL	NEUR		X	Xq22-q23	AGTR2	115216030	115219848		Nishikino, M.  et al. 2006	16954165				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3			CDC GDP info	186	Hs.405348			J Clin Endocrinol Metab    2006	Genetic Variation in the Renin-Angiotensin System and Autonomic Nervous System Function in Young Healthy Japanese Subjects		300034		CDC	2006	Cardiac autonomic function can be modulated by genetic variation in the RAS even in young and healthy states.											
144174		congenital anomalies	DEVELOPMENTAL	DEV	Congenital Abnormalities	X	Xq22-q23	AGTR2	115216030	115219848		Siomou, E.  et al. 2007	17515833				Angiotensin II receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000686.3	Caucasian		CDC GDP info	186	Hs.405348			Pediatr Res    2007	Angiotensin II Type 2 Receptor Gene Polymorphism in Caucasian Children With a Wide Spectrum of Congenital Anomalies of the Kidney and Urinary Tract		300034		CDC	2007												
144179		hyperoxaluria	METABOLIC	MET	Hyperoxaluria, Primary	2	2q36-q37	AGXT	241456834	241467210		Monico, C. G.  et al. 2007	17460142				Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000030.1			CDC GDP info	189	Hs.144567			J Am Soc Nephrol    2007	Comprehensive Mutation Screening in 55 Probands with Type 1 Primary Hyperoxaluria Shows Feasibility of a Gene-Based Diagnosis		604285		CDC	2007												
144186	Y	coke-oven toxicity	METABOLIC	MET	DNA Damage	7	7p15	AHR	17304831	17352299		Chen, Y.  et al. 2006	16985033				Aryl hydrocarbon receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001621.3			CDC GDP info	196	Hs.171189			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1703-7	Association of Polymorphisms in AhR, CYP1A1, GSTM1, and GSTT1 Genes with Levels of DNA Damage in Peripheral Blood Lymphocytes among Coke-Oven Workers		600253		CDC	2006												
144196	Y	atherosclerosis, carotid	CARDIOVASCULAR	CARD	Carotid Artery Diseases|Coronary Disease|Atherosclerosis|Diabetic Angiopathies|Calcinosis|Diabetes Mellitus, Type 2	3	3q27	AHSG	187813580	187821799		Lehtinen, A. B.  et al. 2006	17062776				Alpha-2-HS-glycoprotein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001622.1	European		CDC GDP info	197	Hs.324746			J Clin Endocrinol Metab    2006	Association of {alpha}2-Heremans-Schmid Glycoprotein (AHSG) polymorphisms with subclinical atherosclerosis		138680		CDC	2006	Sequence variants in the AHSG gene affect the extent of CorCP in T2DM-affected European Americans, consistent with the known biological role of AHSG in vascular calcification. These data implicate AHSG in the development of vascular calcified plaque in diabetic subjects.											
144203		breast cancer colorectal cancer prostate cancer	CANCER	CAN	Breast Neoplasms|Colorectal Neoplasms|Prostatic Neoplasms	11	11q13.3	AIP	67007096	67015150		Georgitsi, M.  et al. 2007	17242703				Aryl hydrocarbon receptor interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG913006			CDC GDP info	9049	Hs.412433			Br J Cancer    2007    96(2)    352-6	Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers				CDC	2007												
144204	N	pituitary cancer	CANCER	CAN	Adenoma|Multiple Endocrine Neoplasia Type 1|Pituitary Neoplasms	11	11q13.3	AIP	67007096	67015150		Barlier, A.  et al. 2007	17299063				Aryl hydrocarbon receptor interacting protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG913006	European		CDC GDP info	9049	Hs.412433			J Clin Endocrinol Metab    2007	Mutations in the Aryl Hydrocarbon Receptor Interacting Protein Gene are not Highly Prevalent among Subjects with Sporadic Pituitary Adenomas				CDC	2007	AIP mutations do not appear to play a prominent role in sporadic pituitary tumorigenesis in this population of European subjects.											
144210	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	17	17p11.1	AKAP10	19749341	19821721		Nishihama, K.  et al. 2007	17143557				A kinase (PRKA) anchor protein 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007202.2			CDC GDP info	11216	Hs.642676			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		604694		CDC	2007			diabetes hypercholesterolemia hypertension									
144219		nerve function	NEUROLOGICAL	NEUR	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	7	7q35	AKR1B1	133777646	133794428		Thamotharampillai, K.  et al. 2006	16936152				Aldo-keto reductase family 1, member B1 (aldose reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001628.2			CDC GDP info	231	Hs.521212			Diabetes Care    2006    29(9)    2053-2057	Decline in Neurophysiological Function After 7 Years in an Adolescent Diabetic Cohort and the Role of Aldose Reductase Gene Polymorphisms		103880		CDC	2006	Most autonomic and quantitative sensory nerve testings declined over time.											
144223	Y	testosterone	METABOLIC	MET		10	10p15-p14	AKR1C3	4924795	5139878		Jakobsson, J.  et al. 2006	16983398	Glu77Gly			Aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003739.4	Caucasian		CDC GDP info	8644	Hs.78183			Pharmacogenomics J    2006	A novel polymorphism in the 17beta-hydroxysteroid dehydrogenase type 5 (aldo-keto reductase 1C3) gene is associated with lower serum testosterone levels in caucasian men		603966		CDC	2006	the Glu77Gly polymorphism is associated with lower testosterone levels in serum.											
144230	N	schizophrenia	PSYCH	PSY	Schizophrenia	14	14q32.32	AKT1	104306731	104333125		Turunen, J. A.  et al. 2007	17300918				V-akt murine thymoma viral oncogene homolog 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005163.2	Finnish	Finland	CDC GDP info	207	Hs.525622			Schizophr Res    2007	The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland		164730		CDC	2007												
144233	Y	blood pressure, arterial cholesterol insulin resistance metabolic syndrome	CARDIOVASCULAR	CARD		19	19q13.1-q13.2	AKT2	45428063	45483105		Tassi, V.  et al. 2007	17576055				V-akt murine thymoma viral oncogene homolog 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001626	Caucasian		CDC GDP info	208	Hs.631535			Nutr Metab Cardiovasc Dis    2007	Akt2 Gene common allelic variants in insulin resistance and the metabolic syndrome		164731		CDC	2007	Two variants in 5\ regulatory region of Akt2 gene are associated and may modulate susceptibility to IR and related metabolic abnormalities.											
144242		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		4	4q11-q13	ALB	74488869	74505996		Comings, D. E.  et al. 2000	11140838				Albumin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000477.3			CDC GDP info	213	Hs.418167			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		103600		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
144274	Y	colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms|Genetic Predisposition to Disease	17	17p13.1	ALOX12	6840127	6854776		Gong, Z.  et al. 2007	17236225				Arachidonate 12-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000697.1			CDC GDP info	239	Hs.422967			Cancer    2007	Common polymorphisms in 5-lipoxygenase and 12-lipoxygenase genes and the risk of incident, sporadic colorectal adenoma		152391		CDC	2007	The current results suggested that polymorphisms of LOX genes may act independently or with other factors to affect the risk of colorectal adenoma.											
144281	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	10	10q11.2	ALOX5	45189634	45261569		Carlson, C. S.  et al. 2006	17115186				Arachidonate 5-lipoxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000698.2			CDC GDP info	240	Hs.89499			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		152390		CDC	2006												
144287		stroke, atherothrombotic	CARDIOVASCULAR	CARD		13	13q12	ALOX5AP	30207668	30236556		Zhang, W. L.  et al. 2006	16939001				Arachidonate 5-lipoxygenase-activating protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001629.2			CDC GDP info	241	Hs.507658			Yi Chuan Xue Bao    2006    33(8)    678-84	Polymorphism of SG13S114T/A in the ALOX5AP gene and the risk for stroke in a large Chinese cohort		603700		CDC	2006												
144294		arthropathy, peripheral	CARDIOVASCULAR	CARD	Chondrocalcinosis|Genetic Predisposition to Disease	1	1p36.1-p34	ALPL	21708444	21777492		Peach, C. A.  et al. 2007	17563703				Alkaline phosphatase, liver/bone/kidney	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000478.2			CDC GDP info	249	Hs.75431			Clin Orthop Relat Res    2007	Cuff Tear Arthropathy		171760		CDC	2007												
144301	N	heart failure myocardial infarct	CARDIOVASCULAR	CARD	Heart Failure|Myocardial Infarction	1	1p13	AMPD1	115017244	115039699		Collins, R. P.  et al. 2006	16875916				Adenosine monophosphate deaminase 1 (isoform M)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000036.1			CDC GDP info	270	Hs.89570			Am Heart J    2006    152(2)    312-20	Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients		102770		CDC	2006	This study suggests that AMPD1 C34T genotype is not a predictor of survival in heart disease patients, except possibly those with HxMI.											
144310		spherocytosis	HEMATOLOGICAL	HEM	Spherocytosis, Hereditary|Genetic Predisposition to Disease	8		ANK1	41629900	41873437		Camacho-Torres, A. L.  et al. 2006	17128827				Ankyrin 1, erythrocytic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000037.3	Mexican		CDC GDP info	286	Hs.651185			Gac Med Mex    2006    142(5)    435-7	Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis		182900		CDC	2006	Since there are other genes implicated in the molecular pathology of the HS, we consider it necessary to continue analyzing other polymorphisms of the genes involved in Hereditary Spherocytosis among the Mexican population.											
144328		colorectal cancer	CANCER	CAN	Adenoma|Carcinoma|Colorectal Neoplasms|Genetic Predisposition to Disease	5	5q21-q22	APC	112101482	112209835			16545110				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3	Norwegian		CDC GDP info	324	Hs.158932			BMC Cancer    2006    6(1)    71	Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas		175100		CDC	2006	Our data suggest an association between smoking and adenoma and CRC development.		smoking (tobacco)									
144332	Y	autism	PSYCH	PSY	Autistic Disorder	5	5q21-q22	APC	112101482	112209835		Zhou, X. L.  et al. 2007	17221838				Adenomatosis polyposis coli	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000038.3			CDC GDP info	324	Hs.158932			Am J Med Genet B Neuropsychiatr Genet    2007	Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)		175100		CDC	2007												
144348		cancer	CANCER	CAN	Neoplasms|Genetic Predisposition to Disease	14	14q11.2-q12	APEX1	19993129	19995766		Wilding, C. S.  et al. 2006	17177211				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Environ Mol Mutagen    2006	Influence of polymorphisms at loci encoding DNA repair proteins on cancer susceptibility and G(2) chromosomal radiosensitivity		107748		CDC	2006												
144353		colorectal cancer	CANCER	CAN	Adenomyoma|Colorectal Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Berndt, S. I.  et al. 2007	17283177				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2	Caucasian	United States	CDC GDP info	328	Hs.73722			Cancer Res    2007    67(3)    1395-404	Genetic variation in base excision repair genes and the prevalence of advanced colorectal adenoma		107748		CDC	2007												
144368		triglycerides	METABOLIC	MET		11	11q23-q24	APOA1	116211678	116213548		Hallman, D. M.  et al. 2006	17142127				Apolipoprotein A-I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000039.1			CDC GDP info	335	Hs.93194			Metabolism    2006    55(12)    1574-81	Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels		107680		CDC	2006												
144382		triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q23	APOA5	116165295	116167794			16401313				Apolipoprotein A-V	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_052968.3			CDC GDP info	116519	Hs.283923			Diabet Med    2005    22(12)    1690-5	Interaction of the G182C polymorphism in the APOA5 gene and fasting plasma glucose on plasma triglycerides in Type 2 diabetic subjects		606368		CDC	2005	In 		glucose									
144421		osteonecrosis	METABOLIC	MET	Femur Head Necrosis|Postoperative Complications	2	2p24-p23	APOB	21077805	21120450		Hirata, T.  et al. 2007	17530370				Apolipoprotein B (including Ag(x) antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000384.2			CDC GDP info	338	Hs.120759			J Orthop Sci    2007    12(3)    199-206	ApoB C7623T polymorphism predicts risk for steroid-induced osteonecrosis of the femoral head after renal transplantation		107730		CDC	2007	For the prediction of ONFH, it is useful to analyze ApoB C7623T and plasma ApoB/ApoA1 ratio before the administration of steroids.											
144437	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Hokanson, J. E.  et al. 2006	16505251				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Diabetes    2006    55(3)    834-8	Susceptibility to Type 1 Diabetes Is Associated With ApoCIII Gene Haplotypes		107720		CDC	2006												
144443	Y	cholesterol cholesterol, HDL cholesterol, LDL lipoprotein triglycerides	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	11	11q23.1-q23.2	APOC3	116205833	116208997		Klos, K. L.  et al. 2006	16763159				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Arterioscler Thromb Vasc Biol    2006	Consistent Effects of Genes Involved in Reverse Cholesterol Transport on Plasma Lipid and Apolipoprotein Levels in CARDIA Participants		107720		CDC	2006	Four gene regions, ABCA1, APOA1/C3/A4/A5, APOE/C1/C4/C2, and CETP, explained plasma lipoprotein variation most consistently across strata. Other gene regions that influence plasma lipid and apolipoprotein levels within race include CYP7A1, LPL, PPARA, SOAT1, and SREBF2.											
144448	N	ApoA5 diabetes, type 2 triglycerides	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11q23.1-q23.2	APOC3	116205833	116208997		Talmud, P. J.  et al. 2006	16917759				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Diabetologia    2006	The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels		107720		CDC	2006	 In contrast to animal studies, in man, plasma APOA5 positively correlates with plasma triglyceride levels. In prospective analysis, with the caveat that numbers were small, APOA5 genotypes do not appear to have an impact on risk of development of type 2 diabetes.											
144452		triglycerides	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Hallman, D. M.  et al. 2006	17142127				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Metabolism    2006    55(12)    1574-81	Longitudinal analysis of haplotypes and polymorphisms of the APOA5 and APOC3 genes associated with variation in serum triglyceride levels		107720		CDC	2006												
144462		cholesterol, HDL	METABOLIC	MET		11	11q23.1-q23.2	APOC3	116205833	116208997		Heidema, A. G.  et al. 2007	17615573				apolipoprotein C-III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000040.1			CDC GDP info	345	Hs.73849			Genet Epidemiol    2007	Analysis of multiple SNPs in genetic association studies		107720		CDC	2007	the application of a combination of multi-locus methods is a useful approach in genetic association studies to select a well-defined set of important SNPs for further statistical and epidemiological interpretation, providing increased confidence and more information compared with the application of only one method. Genet. Epidemiol. 2007. (c) 2007 Wiley-Liss, Inc.											
144471		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Hypertension|Disease Susceptibility	19	19q13.2	APOE	50100878	50104490		Gao, X.  et al. 2006	16443328				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurosci Lett    2006	Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke		107741		CDC	2006			alcohol smoking (tobacco)									
144476	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	19	19q13.2	APOE	50100878	50104490		Ahn Jo, S.  et al. 2006	16480703				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Korean		CDC GDP info	348	Hs.515465			Clin Chim Acta    2006	ApoE-epsilon 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease		107741		CDC	2006	There is considerable effect of the ChAT polymorphisms on AD in Korean population and this effect is dependent on ApoE genotypes.			APOE		CHAT						
144485		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Corder, E. H.  et al. 2006	16608402				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Rejuvenation Res    2006    9(1)    89-93	Membership in genetic groups predicts Alzheimer disease		107741		CDC	2006												
144489	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Sundar, P. D.  et al. 2006	16725228				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2006	Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset Alzheimer's disease		107741		CDC	2006												
144505		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Iron Metabolism Disorders|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Blazquez, L.  et al. 2006	17011669				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Neurobiol Aging    2006	Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population		107741		CDC	2006												
144509		inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Thrombosis|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Yilmaz, S.  et al. 2006	17111197				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			J Thromb Thrombolysis    2006	A comprehensive analysis of 12 thrombophilic mutations and related parameters in patients with inflammatory bowel disease		107741		CDC	2006	Predominantly, the presence of genetic mutations that predispose to hypercoagulable states does not appear to be in correlation with IBD.											
144512		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Pesaresi, M.  et al. 2006	17174555				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Italian	Italy	CDC GDP info	348	Hs.515465			Neurobiol Dis    2006	The urokinase-type plasminogen activator polymorphism PLAU_1 is a risk factor for APOE-epsilon4 non-carriers in the Italian Alzheimer's disease population and does not affect the plasma Abeta(1-42) level		107741		CDC	2006												
144516	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Ahn, K.  et al. 2006	17202849				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Caucasian;Korean	Korea	CDC GDP info	348	Hs.515465			Exp Mol Med    2006    38(6)    727-31	No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population		107741		CDC	2006												
144519		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Multiple Sclerosis, Relapsing-Remitting|Disease Progression|Genetic Predisposition to Disease	19	19q13.2	APOE	50100878	50104490		Huang, R.  et al. 2007	17254710				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	African American;Caucasian		CDC GDP info	348	Hs.515465			Neurosci Lett    2007	APOE genotypes in African American female multiple sclerosis patients		107741		CDC	2007												
144528	N	cholesterol, HDL triglycerides	CARDIOVASCULAR	CARD	Cardiovascular Diseases	19	19q13.2	APOE	50100878	50104490		Fiegenbaum, M.  et al. 2007	17367769				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2	Brazilian;European	Brazil	CDC GDP info	348	Hs.515465			Clin Chim Acta    2007	Association between plasma lipid parameters and APOC3 genotypes in Brazilian subjects		107741		CDC	2007	APOC3 polymorphisms were associated with lipid variables, but the magnitude of these associations was modulated by additional genetic, biologic and/or environmental factors.		smoking (tobacco)									
144532		Alzheimer's disease apolipoprotein E levels	NEUROLOGICAL	NEUR		19	19q13.2	APOE	50100878	50104490		Wahrle, S. E.  et al. 2007	17430597				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Mol Neurodegener    2007    2(1)    7	Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms		107741		CDC	2007	We found that CSF apoE levels vary widely between individuals, but are stable within individuals over a two-week interval. AD status, APOE genotype, gender and race do not affect CSF apoE levels, but average CSF apoE levels increase with age. Given the lack of association between CSF apoE levels and genotypes for the ABCA1 SNPs we examined, either these SNPs											
144539	Y	cognitive function	PSYCH	PSY	Stress	19	19q13.2	APOE	50100878	50104490		Reynolds, C. A.  et al. 2007	17564514				Apolipoprotein E	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000041.2			CDC GDP info	348	Hs.515465			Twin Res Hum Genet    2007    10(2)    241-54	Genotype-environment interactions		107741		CDC	2007	suggested that nonshared environmental influences associated with depressive symptoms may moderate the G x E relationship observed for ESR1 and APOE and longitudinal semantic memory change whereby noncarriers of putative risk alleles may be relatively more sensitive to depressionevoking environmental contexts than carriers of the risk allele.		depression life events social support									
144555		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	21	21q21.2	APP	26174731	26465003		Nowotny, P.  et al. 2007	17427190				Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000484.2			CDC GDP info	351	Hs.642685			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP)		104760		CDC	2007												
144567	N	breast cancer	CANCER	CAN	Breast Neoplasms	X	Xq11.2-q12	AR	66680598	66860844		Cox, D. G. et al  et al. 2006	16987421				Androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000044.2	Caucasian;European		CDC GDP info	367	Hs.496240			Breast Cancer Res    2006    8(5)    R54	A comprehensive analysis of the AR gene and risk of breast cancer		313700		CDC	2006	Among postmenopausal Caucasian women, common variants of the AR gene are not associated with risk of breast cancer.											
144582		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	13	13q14.2	ARL11	49100624	49105732		Frank, B.  et al. 2006	16488076				ADP-ribosylation factor-like 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138450.3	German	Germany	CDC GDP info	115761	Hs.558599			Cancer Lett    2006	ARLTS1 variants and risk of colorectal cancer		609351		CDC	2006			family history									
144588		bladder cancer	CANCER	CAN		3		ARL6IP5	69216779	69237929		Wu, W.  et al. 2005	16331563			promoter	ADP-ribosylation-like factor 6 interacting protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006407.3			CDC GDP info	10550	Hs.518060			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2005    22(6)    648-52	A case-control study on JWA promoter -76G>C polymorphism and the susceptibility of bladder cancer.				CDC	2005	The JWA -76G-->C variant genotype may play an important role in transcription regulation of JWA gene and in the susceptibility to bladder cancer.											
144594	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Macular Degeneration|Coronary Artery Disease|Genetic Predisposition to Disease	10	10q26.13	ARMS2	124204168	124206858		Pulido, J. S.  et al. 2007	17352366				Age-related maculopathy susceptibility 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CB998303			CDC GDP info	387715	Hs.120359			Mayo Clin Proc    2007    82(3)    301-7	Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease				CDC	2007	The CFH genotype may have an independent association with CAD, although our evidence did not show statistical significance.											
144599	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	11	11p15	ARNTL	13255900	13365388			16528748				Aryl hydrocarbon receptor nuclear translocator-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001030273			CDC GDP info	406	Hs.65734			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		602550		CDC	2006												
144609		schizophrenia	PSYCH	PSY	Schizophrenia	12	12q22-q23	ASCL1	101875593	101878419		Passos Gregorio, S.  et al. 2006	16899352				Achaete-scute complex-like 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004316.2	Brazilian;Danish	Brazil|Denmark	CDC GDP info	429	Hs.524672			Schizophr Res    2006    88(1-3)    275-82	Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects		100790		CDC	2006												
144616	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Genetic Predisposition to Disease	9	9q22	ASPN	94258309	94284609		Valdes, A. M.  et al. 2006	17195216				Asporin (LRR class 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017680.3	Japanese;Caucasian	Japan|Great Britain	CDC GDP info	54829	Hs.435655			Arthritis Rheum    2006    56(1)    137-146	Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee		608135		CDC	2006	Our results indicate that genetic polymorphisms affecting knee OA vary between populations (Japanese versus Caucasian) and sexes and indicate a role for ASPN, COMP, FRZB, and COL2A1 in Caucasians.											
144624	Y	diabetes, type 2 glucose tolerance	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance|Genetic Predisposition to Disease	1	1q22-q23	ATF6	160002707	160199586		Meex, S. J.  et al. 2007	17440018				Activating transcription factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX538263	Caucasian;Indian;Pima Indians		CDC GDP info	22926	Hs.492740			J Clin Endocrinol Metab    2007	ATF6 polymorphisms and haplotypes are associated with impaired glucose homeostasis and type 2 diabetes in Dutch Caucasians		605537		CDC	2007	Our results strengthen the evidence that one or more variants in ATF6 are associated with disturbed glucose homeostasis and DM2.											
144637		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	11	11q22-q23	ATM	107598768	107745036			16520463				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			J Clin Oncol    2006	Single Nucleotide Polymorphisms of RecQ1, RAD54L and ATM Genes Are Associated With Reduced Survival of Pancreatic Cancer		607585		CDC	2006	These observations support the hypothesis that polymorphic variants of DNA repair genes affect clinical prognosis of patients with pancreatic cancer.		gemcitabine radiation									
144645	Y	endometrial cancer	CANCER	CAN	Endometrial Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Einarsdottir, K.  et al. 2006	17164260				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Hum Mol Genet    2006	Effect of ATM, CHEK2 and ERBB2 tagSNPs and haplotypes on endometrial cancer risk		607585		CDC	2006	it is possible that common variants in the ATM and CHEK2 genes, in interaction with oestrogen-related exposures, are involved in endometrial cancer aetiology.		smoking (tobacco)									
144651	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	11	11q22-q23	ATM	107598768	107745036		Baynes, C.  et al. 2007	17428325				Ataxia telangiectasia mutated (includes complementation groups A, C and D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000051.3			CDC GDP info	472	Hs.435561			Breast Cancer Res    2007    9(2)    R27	Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk		607585		CDC	2007	It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.											
144657		high-altitude tolerance	OTHER	OTH	Altitude Sickness	1	1p21	ATP1A1	116717358	116748919		Rajput, C.  et al. 2006	16893516				Hypothetical protein MGC16179	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000701.6			CDC GDP info	476	Hs.371889			Biochem Biophys Res Commun    2006	Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation		182310		CDC	2006												
144660	N	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura	1	1q21-q23	ATP1A2	158352171	158379998		Netzer, C.  et al. 2006	16508935				ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000702.2			CDC GDP info	477	Hs.34114			Am J Med Genet B Neuropsychiatr Genet    2006	Haplotype-based systematic association studies of ATP1A2 in migraine with aura		182340		CDC	2006	we found no evidence for a common contribution of ATP1A2 to the pathogenesis of complex inherited MA.											
144681	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	20	20q13.2-q13.3	AURKA	54377851	54400758		Chen, J.  et al. 2007	17219423				aurora kinase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198433.1	Caucasian		CDC GDP info	6790	Hs.250822			Mol Carcinog    2007	Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population		603072		CDC	2007												
144690		infertility, male	REPRODUCTION	REP	Infertility, Male|Oligospermia|Chromosome Deletion|Genetic Predisposition to Disease	Y	Yq11.2	AZF1				Sobczynska-Tomaszewska, A.  et al. 2006	16572913				ubiquitin specific peptidase 9, Y-linked	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_004654	Polish		CDC GDP info	8287	Hs.655309			J Reprod Med    2006    51(2)    120-7	Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility				CDC	2006	Molecular diagnosis of the CFTR gene, Y chromosome deletion analysis and genetic counseling are necessary diagnostic elements for patients with male infertility, especially if the are included in an ART program.											
144701	N	breast cancer	CANCER	CAN		2	2q34-q35	BARD1	215301521	215382611		Jakubowska, A.  et al. 2007	17333333				BRCA1 associated RING domain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000465.1	Polish		CDC GDP info	580	Hs.591642			Breast Cancer Res Treat    2007	BARD1 and breast cancer in Poland		601593		CDC	2007	There was no clear association between the presence of the BARD1 Cys557Ser allele and breast cancer in Poland.		family history									
144714		prostate cancer	CANCER	CAN	Carcinoma|Prostatic Neoplasms|Genetic Predisposition to Disease	18	18q21.33	BCL2	58941558	59137637		Kidd, L. R.  et al. 2006	16733517				B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2	African American;European	Jamaica	CDC GDP info	596	Hs.150749			Prostate Cancer Prostatic Dis    2006	Germline BCL-2 sequence variants and inherited predisposition to prostate cancer		151430		CDC	2006												
144716	Y	chronic obstructive pulmonary disease/COPD lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	18	18q21.33	BCL2	58941558	59137637		Sata, M.  et al. 2007	17207023			Intron	B-cell CLL/lymphoma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000633.2			CDC GDP info	596	Hs.150749			Respirology    2007    12(1)    34-41	Intronic single-nucleotide polymorphisms in Bcl-2 are associated with chronic obstructive pulmonary disease severity		151430		CDC	2007	Although the linkage between Bcl-2 gene and the susceptibility to COPD remains to be clarified, the findings of the current study indicate that Bcl-2 might be influencing the level of lung function, that is, the development and severity of COPD.											
144722		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	14	14q32.1-q32.2	BDKRB1	95792311	95800853		Tazon-Vega, B.  et al. 2007	17303584				Bradykinin receptor B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000710	European		CDC GDP info	623	Hs.553486			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		600337		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
144730	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p13	BDNF	27633017	27699872			16406671				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Neurosci Lett    2006	Association between the brain-derived neurotrophic factor (BDNF) gene and Schizophrenia in the Chinese population		113505		CDC	2006												
144736	N	schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Hashimoto, T.  et al. 2006	16513879				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Psychiatry    2006    163(3)    534-7	BDNF Val66Met polymorphism and GAD67 mRNA expression in the prefrontal cortex of subjects with schizophrenia		113505		CDC	2006	The presence of the BDNF Met66 allele does not contribute to the decreased level of GAD(67) mRNA expression in the prefrontal cortex of subjects with schizophrenia.											
144741		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Jonsson, E. G.  et al. 2006	16581172				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Sweden	CDC GDP info	627	Hs.502182			Prog Neuropsychopharmacol Biol Psychiatry    2006	Brain-derived neurotrophic factor gene (BDNF) variants and schizophrenia		113505		CDC	2006												
144747		affective disorder Alzheimer's disease post-traumatic stress disorder schizophrenia substance abuse	PSYCH	PSY	Alzheimer Disease|Substance-Related Disorders|Stress Disorders, Post-Traumatic|Mood Disorders|Schizophrenia	11	11p13	BDNF	27633017	27699872		Zhang, H.  et al. 2006	16649215				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	European		CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2006	Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence		113505		CDC	2006												
144754	Y	depression	NEUROLOGICAL	NEUR	Alzheimer Disease|Depressive Disorder|Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Grunblatt, E.  et al. 2006	16797081				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			J Affect Disord    2006	"Association study of BDNF and CNTF polymorphism to depression in non-demented subjects of the ""VITA"" study "		113505		CDC	2006	These results call in question the hypothesis that either BDNF or CNTF can be used as molecular markers for depression or late onset depression in the elderly.											
144763		Alzheimer's disease dementia with Lewy bodies	NEUROLOGICAL	NEUR	Lewy Body Disease|Alzheimer Disease	11	11p13	BDNF	27633017	27699872		Akatsu, H.  et al. 2006	16899999				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3		Japan	CDC GDP info	627	Hs.502182			Dement Geriatr Cogn Disord    2006    22(3)    216-222	Variations in the BDNF Gene in Autopsy-Confirmed Alzheimer's Disease and Dementia with Lewy Bodies in Japan		113505		CDC	2006	On comparing patients and controls, the distribution of BDNF genotypes and alleles did not differ significantly.											
144766		depressive disorder, major	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Anxiety Disorders|Depressive Disorder, Major	11	11p13	BDNF	27633017	27699872		Choi, M. J.  et al. 2006	16979146				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Korean		CDC GDP info	627	Hs.502182			Brain Res    2006    1118(1)    176-82	Brain-derived neurotrophic factor gene polymorphism (Val66Met) and citalopram response in major depressive disorder		113505		CDC	2006			citalopram									
144773		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p13	BDNF	27633017	27699872		Qian, L.  et al. 2006	17196936				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Chinese;Caucasian;Asian		CDC GDP info	627	Hs.502182			Biochem Biophys Res Commun    2006	Brain-derived neurotrophic factor and risk of schizophrenia		113505		CDC	2006												
144775	Y	cognitive function	PSYCH	PSY	Cognition Disorders|Bipolar Disorder	11	11p13	BDNF	27633017	27699872		Savitz, J.  et al. 2007	17210134				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Biol Psychiatry    2007	Genotype and Childhood Sexual Trauma Moderate Neurocognitive Performance		113505		CDC	2007	Apolipoprotein E and BDNF exert a neurotrophic effect in response to cellular injury.		sexual abuse									
144779	N	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11p13	BDNF	27633017	27699872		Xiromerisiou, G.  et al. 2006	17229524				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Caucasian;Finnish;Greek	North America|Finland|Greece	CDC GDP info	627	Hs.502182			Neurosci Lett    2006	BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups		113505		CDC	2006	our results do not provide statistically significant evidence that common genetic variability in BDNF would associate with the risk for PD in the Caucasian populations studied here.											
144782		bipolar disorder	PSYCH	PSY		11	11p13	BDNF	27633017	27699872		Liu, M.  et al. 2007	17284422				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Yi Chuan    2007    29(1)    41-6	An association study between GRIN1, BDNF genes and bipolar disorder		113505		CDC	2007												
144794		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p13	BDNF	27633017	27699872		Kim, J. W.  et al. 2007	17427194				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3			CDC GDP info	627	Hs.502182			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of parent-of-origin effects in ADHD candidate genes		113505		CDC	2007												
144803	N	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	12	12p11.23-p12.1	BHLHB3	26163344	26169113		Falvella, F. S.  et al. 2006	17194498				Basic helix-loop-helix domain containing, class B, 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB044088	Norwegian		CDC GDP info	79365	Hs.177841			Lung Cancer    2006	Common polymorphisms in D12S1034 flanking genes RASSF8 and BHLHB3 are not associated with lung adenocarcinoma risk		606200		CDC	2006												
144809		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	22	22q11.1	BID	16596905	16637258		Ester, A. R.  et al. 2007	17534194				BH3 interacting domain death agonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036364			CDC GDP info	637	Hs.591054			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		601997		CDC	2007												
144812	Y	amenorrhea premature ovarian failure	REPRODUCTION	REP	Ovarian Failure, Premature	X	Xp11.2	BMP15	50670523	50676347		Dixit, H.  et al. 2006	16508750				Bone morphogenetic protein 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC117264			CDC GDP info	9210	Hs.532692			Hum Genet    2006	Missense mutations in the BMP15 gene are associated with ovarian failure		300247		CDC	2006												
144837		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	7	7q34	BRAF	140080751	140271033		Libra, M.  et al. 2006	16687919				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Cell Cycle    2006    5(9)	Absence of BRAF Gene Mutation in Non-Melanoma Skin Tumors		164757		CDC	2006												
144844		thyroid cancer	CANCER	CAN	Carcinoma, Papillary|Thyroid Neoplasms|Neoplasms, Radiation-Induced	7	7q34	BRAF	140080751	140271033		Takahashi, K.  et al. 2007	17186541				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3		Japan	CDC GDP info	613	Hs.550061			Mol Carcinog    2007    46(3)    242-8	The presence of BRAF point mutation in adult papillary thyroid carcinomas from atomic bomb survivors correlates with radiation dose		164757		CDC	2007			radiation									
144845	Y	colorectal cancer	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Microsatellite Instability	7	7q34	BRAF	140080751	140271033		Maestro, M. L.  et al. 2006	17195912				V-raf murine sarcoma viral oncogene homolog B1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004333.3			CDC GDP info	613	Hs.550061			Ann Surg Oncol    2006	Role of the BRAF Mutations in the Microsatellite Instability Genetic Pathway in Sporadic Colorectal Cancer		164757		CDC	2006	There is a subgroup of carcinomas which develop via the MSI pathway that carry an alteration of the BRAF gene.											
144858	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Copson, E. R.  et al. 2006	16563154				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			BMC Cancer    2006    6(1)    80	Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers		113705		CDC	2006	We found no evidence that the MDM2 SNP309 accelerates tumour development in carriers of known pathogenic germline mutations of BRCA1.											
144867		cytogenetic studies	OTHER	OTH		17	17q21	BRCA1	38449839	38530994		Laczmanska, I.  et al. 2006	17078101				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		113705		CDC	2006												
144870	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q21	BRCA1	38449839	38530994		Song, C. G.  et al. 2006	17217814				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Zhonghua Wai Ke Za Zhi    2006    44(19)    1310-3	Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer		113705		CDC	2006	Val158Met polymorphism in COMT gene could be a candidate for low penetrance breast cancer susceptibility in Shanghai population, especially among premenopausal women and early-onset breast cancer patients.											
144875		breast cancer	CANCER	CAN		17	17q21	BRCA1	38449839	38530994		Johnson, N.  et al. 2007	17409195				Breast cancer 1, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007294.2			CDC GDP info	672	Hs.194143			Hum Mol Genet    2007	Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility		113705		CDC	2007												
144881	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Garcia-Closas, M.  et al. 2006	16485136				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Caucasian		CDC GDP info	675	Hs.34012			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		600185		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
144889		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Breast Cancer Association, = Consortium  et al. 2006	17018785				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		600185		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
144898	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	17	17q22-q24	BRIP1	57114766	57295537		Garcia-Closas, M.  et al. 2006	16485136				BRCA1 interacting protein C-terminal helicase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032043.1	Caucasian		CDC GDP info	83990	Hs.532799			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		605882		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
144909	Y	Graves' disease	IMMUNE	IMM	Graves Disease|Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	BTNL2	32470490	32482878		Simmonds, M. J.  et al. 2006	16984233				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1	Caucasian		CDC GDP info	56244	Hs.534471			Clin Endocrinol (Oxf)    2006    65(4)    429-32	Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74		606000		CDC	2006	BTNL2 may be a sarcoidosis-specific susceptibility loci, although only extensive examination of the whole HLA region in different inflammatory/AIDs will enable DR/DQ independent HLA effects to be determined.											
144920	Y	nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	7	7p14-p13	C1GALT1	7240413	7250506		Li, G. S.  et al. 2007	17228361				Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020156			CDC GDP info	56913	Hs.592180			Kidney Int    2007	Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy		610555		CDC	2007												
144924	Y	dyslexia	NEUROLOGICAL	NEUR	Dyslexia	2	2p11.2-p11.1	C2orf3	75742801	75791830		Anthoni, H.  et al. 2007	17309879				Chromosome 2 open reading frame 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003203	Finnish;German		CDC GDP info	6936	Hs.303808			Hum Mol Genet    2007	A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia		189901		CDC	2007	our data support MRPL19 and C2ORF3 as candidate susceptibility genes for DYX3.											
144927		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	6	6p21.3	C4A	32057812	32078435		Saevarsdottir, S.  et al. 2006	16439442				Complement component 4A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007293.2	Icelandic		CDC GDP info	720	Hs.534847			Ann Rheum Dis    2006    65(11)    1462-7	Mannan-binding lectin and complement C4A in Icelandic multicase families with systemic lupus erythematosus		120810		CDC	2006	These findings indicate that low MBL levels can predispose people to SLE and highlight the genetic heterogeneity of this disease.											
144943		bone density osteocalcin	METABOLIC	MET		11	11p15.2-p15.1	CALCA	14944791	14950408		Nakamura, M.  et al. 2006	17535749				Calcitonin/calcitonin-related polypeptide, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001741.2			CDC GDP info	796	Hs.37058			Cell Mol Biol (Noisy-le-grand)    2006    52(3)    15-8	Cytosine-adenine repeat polymorphism at calcitonin gene locus associated with serum osteocalcin level in Japanese women		114130		CDC	2006												
144950	Y	anticoagulant response of acenocoumarol	PHARMACOGENOMIC	PHARM		7		CALU	128166671	128198764		Gonzalez-Conejero, R.  et al. 2007	17596133				Calumenin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001219.2			CDC GDP info	813	Hs.652293			J Thromb Haemost    2007	The genetic interaction of VKORC1 c1173t/calumenin a29809g modulates the anticoagulant response of acenocoumarol		603420		CDC	2007	Our results suggest that CALU a29809g might be a new genetic factor involved in the pharmacogenetic of anticoagulant therapy, and confirm that specific genetic profiles defined by different polymorphisms will determine the initial response and required dose to achieve an stable and safe INR.											
144956	Y	diabetes, type 2	METABOLIC	MET	Cystic Fibrosis|Diabetes Mellitus	2	2q37.3	CAPN10	241174817	241205795		Derbel, S.  et al. 2006	16377260				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			J Cyst Fibros    2006    5(1)    47-51	Calpain 10 and development of diabetes mellitus in cystic fibrosis		605286		CDC	2006	our observations suggest that UCSNP-19 of CAPN10 may be involved in the pathogenesis of diabetes in CF.											
144965	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	2	2q37.3	CAPN10	241174817	241205795		Lyssenko, V.  et al. 2005	17570749				Calpain 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_023083.2			CDC GDP info	11132	Hs.112218			PLoS Med    2005    2(12)    e345	Genetic prediction of future type 2 diabetes		605286		CDC	2005	We demonstrate in a large prospective study that variants in the PPARG and CAPN10 genes predict future T2D.		body mass glucose									
144971		cholesterol, HDL cholesterol, LDL	METABOLIC	MET	Insulin Resistance	5	5q13.2	CART	71050750	71052628		Vasseur, F.  et al. 2006	17008116			promoter	Cocaine- and amphetamine-regulated transcript	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004291.2			CDC GDP info	9607	Hs.1707			Mol Genet Metab    2006	Impact of a CART promoter genetic variation on plasma lipid profile in a general population		602606		CDC	2006												
144993	Y	lung cancer	CANCER	CAN		1	1p36.3-p36.1	CASP9	15689910	15723971		Lou, Y.  et al. 2007	17285546				Caspase 9, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001229.2			CDC GDP info	842	Hs.329502			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(1)    59-62	A study on the expression of CASP9 gene and its polymorphism distribution in non-small cell lung cancer.		602234		CDC	2007	This study confirms the association between CASP9 gene and NSCLC oncogenesis, rs1052576 which locates in exon 5 of CASP9 gene is associated with NSCLC.											
145013		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	11	11p13	CAT	34417053	34450183		Oestergaard, M. Z.  et al. 2006	16868544				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		115500		CDC	2006												
145017		diabetes, type 2 diabetic nephropathy heart disease, ischemic retinopathy, diabetic	METABOLIC	MET	Diabetes Mellitus, Type 2	11	11p13	CAT	34417053	34450183		Dos Santos, K. G.  et al. 2006	17264407			promoter	Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2	Brazilian;Caucasian	Brazil	CDC GDP info	847	Hs.502302			Dis Markers    2006    22(5-6)    355-9	The catalase -262C/T promoter polymorphism and diabetic complications in Caucasians with type 2 diabetes		115500		CDC	2006												
145033	N	neural tube defects	DEVELOPMENTAL	DEV	Neural Tube Defects	21	21q22.3	CBS	43346369	43369493		Boyles, A. L.  et al. 2006	17035141				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1	Caucasian		CDC GDP info	875	Hs.533013			Environ Health Perspect    2006    114(10)    1547-52	Neural tube defects and folate pathway genes		236200		CDC	2006	BHMT rs3733890 is significantly associated in our data set, whereas MTHFR rs1801133 is not a major risk factor.											
145038		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	21	21q22.3	CBS	43346369	43369493		Fredriksen, A.  et al. 2007	17436311				Cystathionine-beta-synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000071.1			CDC GDP info	875	Hs.533013			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		236200		CDC	2007												
145041		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		3	3p22-p21.3	CCK	42274321	42282666		Comings, D. E.  et al. 2000	11140838				Cholecystokinin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000729.3			CDC GDP info	885	Hs.458426			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		118440		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
145053		leishmaniasis, visceral	INFECTION	INF	Leishmaniasis, Visceral|Genetic Predisposition to Disease	17	17q11.2	CCL16	31327647	31332636		Jamieson, S. E.  et al. 2007	17122780				Chemokine (C-C motif) ligand 16	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC099664			CDC GDP info	6360	Hs.10458			Genes Immun    2007    8(1)    84-90	Genome-wide scan for visceral leishmaniasis susceptibility genes in Brazil		601394		CDC	2007												
145058		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q21.1	CCL2	29606408	29608333		Sanchez, E.  et al. 2006	16719905				Chemokine (C-C motif) ligand 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002982.3			CDC GDP info	6347	Hs.303649			BMC Med Genet    2006    7(1)    48	Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus		158105		CDC	2006	These results suggest that the tested functional variation of RANTES, IL-8, IL-1alpha, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.											
145082		hepatitis C HIV	INFECTION	INF	Hepatitis C|HIV Infections	17	17q11.2-q12	CCL5	31222608	31231490		Ahlenstiel, G.  et al. 2005	16437690				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			World J Gastroenterol    2005    11(48)    7631-7638	Distribution and effects of polymorphic RANTES gene alleles in HIV/HCV coinfection - A prospective cross-sectional study		187011		CDC	2005	All three RANTES polymorphisms showed increased frequencies of the variant allele exclusively in patients with HIV monoinfection.											
145092		asthma Chlamydophila pneumoniae infection	INFECTION	INF	Chlamydophila Infections|Asthma|Disease Susceptibility	17	17q11.2-q12	CCL5	31222608	31231490		Tolgyesi, G.  et al. 2006	16988194			promoter	Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			Pediatr Res    2006	Involvement of TNF{alpha} -308A Promoter Polymorphism in the Development of Asthma in Children Infected with Chlamydophila pneumoniae		187011		CDC	2006			C. pneumoniae									
145109		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	11	11q13	CCND1	69165053	69178423		Schernhammer, E. S.  et al. 2006	16495921				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Br J Cancer    2006	Cyclin D1 A870G polymorphism and the risk of colorectal cancer and adenoma		168461		CDC	2006			diet family history hormone replacement therapy									
145114	N	lung cancer	CANCER	CAN	Lung Neoplasms|Cell Transformation, Neoplastic	11	11q13	CCND1	69165053	69178423		Gu, J.  et al. 2006	16691626				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2	Caucasian;Mexican;Mexican American		CDC GDP info	595	Hs.523852			Cancer    2006	A nonsynonymous single-nucleotide polymorphism in the PDZ-Rho guanine nucleotide exchange factor (Ser1416Gly) modulates the risk of lung cancer in Mexican Americans		168461		CDC	2006	To the authors\ knowledge, this is the first epidemiological study to link PDZ-RhoGEF polymorphisms with cancer risk. The results suggest that there are interactions between RGS2, RGS6, and PDZ-RhoGEF and validate this family of proteins as key regulators of tumorigenesis.											
145122	Y	breast cancer	PHARMACOGENOMIC	PHARM	Breast Neoplasms|Neoplasm Metastasis|DNA Damage|Disease Progression	11	11q13	CCND1	69165053	69178423		Bewick, M. A.  et al. 2006	17116943				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			J Clin Oncol    2006	Polymorphisms in XRCC1, XRCC3, and CCND1 and Survival After Treatment for Metastatic Breast Cancer		168461		CDC	2006	XRCC1-01, XRCC3-01, and CCND1-01 may be predictive of survival outcome in patients with MBC treated with DNA damaging chemotherapy.		chemotherapy organic solvents									
145128	Y	benzene toxicity	PHARMACOGENOMIC	PHARM		11	11q13	CCND1	69165053	69178423		Xu, J. N.  et al. 2007	17605237				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Zhonghua Yu Fang Yi Xue Za Zhi    2007    41(2)    114-7	Analysis for the association between genetic polymorphisms of XRCC1, XPD, XRCC3, CCND1 and the latency of the occupational chronic benzene poisoning		168461		CDC	2007	The polymorphisms of XRCC1 and CCND1 potentially modify the latency of the chronic benzene poisoning among workers exposed to benzene.											
145147	Y	HIV	PHARMACOGENOMIC	PHARM	HIV Infections	3	3p21	CCR2	46370363	46377429		Coll, B.  et al. 2006	16903979				CCR2 chemokine (C-C motif) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000647.3			CDC GDP info	1231	Hs.644637			HIV Med    2006    7(6)    356-60	Influence of a monocyte chemoattractant protein 1 mutated allele on the response to protease inhibitor-based antiretroviral therapy		601267		CDC	2006	A better response to PI treatment appears to be conferred by mutations in the host MCP-1 and CCR-2 genes, and may be related to the cellular axis-of-entry used by the retrovirus.		antiretroviral									
145168		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	3	3p24	CCR4	32968069	32971407		Hoffjan, S.  et al. 2006	17117949				Chemokine (C-C motif) receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005508.4	German		CDC GDP info	1233	Hs.184926			Int J Immunogenet    2006    33(6)    401-409	Association screen for atopic dermatitis candidate gene regions using microsatellite markers in pooled DNA samples		604836		CDC	2006												
145172	N	hypertension	CARDIOVASCULAR	CARD	Hypertension	3	3p21	CCR5	46387429	46392701		Zhang, M.  et al. 2006	16461193				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Am J Hypertens    2006    19(1)    67-72	Genetic variations in CC chemokine receptors and hypertension		601373		CDC	2006	The results of the present study, which is much larger than previously published studies, provide no evidence that either CCR5-Delta32 or CCR2-64I is associated with hypertension.											
145175		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	3	3p21	CCR5	46387429	46392701		Paz-y-Mino, C.  et al. 2005	16485782				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Hum Biol    2005    77(4)    521-6	CCR5delta32, CCR2-64I, and SDF1-3'A polymorphisms related to resistance to HIV-1 infection and disease in the Ecuadorian population		601373		CDC	2005												
145181		HIV	INFECTION	INF	HIV Infections	3	3p21	CCR5	46387429	46392701		Suresh, P.  et al. 2006	16865553				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			J Clin Immunol    2006	Gene Polymorphisms in CCR5, CCR2, CX3CR1, SDF-1 and RANTES in Exposed but Uninfected Partners of HIV-1 Infected Individuals in North India		601373		CDC	2006												
145197		HIV leukoencephalopathy	INFECTION	INF		3	3p21	CCR5	46387429	46392701		Guerini, F. R.  et al. 2007	17560067				Chemokine (C-C motif) receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000579.1			CDC GDP info	1234	Hs.450802			Biomed Pharmacother    2007	Analysis of CCR5, CCR2, SDF1 and RANTES gene polymorphisms in subjects with HIV-related PML and not determined leukoencephalopathy		601373		CDC	2007												
145206	Y	IgE response IgG	IMMUNE	IMM	Asthma|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Jackola, D. R.  et al. 2006	16446545			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	Caucasian		CDC GDP info	929	Hs.163867			Int Arch Allergy Immunol    2006    139(3)    217-224	CD14 Promoter Polymorphisms in Atopic Families		158120		CDC	2006	An element of the innate immune system (CD14) has profound effects upon modulating the acquired allergen-specific immunoglobulin responses among those with an inherited atopic predisposition.											
145209	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439			16520888				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		158120		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
145213		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Brassat, D.  et al. 2006	16625214				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Genes Immun    2006	Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans		158120		CDC	2006												
145216		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	5	5q22-q32	CD14	139991500	139993439		Lim, J. E.  et al. 2006	16749413			promoter	CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			J Int Med Res    2006    34(2)    176-82	CD14 receptor gene promoter polymorphism		158120		CDC	2006												
145223	Y	atopy	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate	5	5q22-q32	CD14	139991500	139993439		Leynaert, B.  et al. 2006	16950285				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2	European;French		CDC GDP info	929	Hs.163867			J Allergy Clin Immunol    2006    118(3)    658-65	Association between farm exposure and atopy, according to the CD14 C-159T polymorphism		158120		CDC	2006	A gene-by-environment interaction between CD14 C-159T and environmental exposure in childhood may modify the development of atopy. CLINICAL IMPLICATIONS: This polymorphism should be considered in interventions studies that use microbial stimuli to reduce sensitization.		farm exposure									
145232	N	stomach cancer	CANCER	CAN	Helicobacter Infections|Lymphoma, B-Cell, Marginal Zone|Adenocarcinoma|Stomach Neoplasms|Lymphoma, B-Cell, Marginal Zone|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Wu, M. S.  et al. 2006	17086894				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Hepatogastroenterology    2006    53(71)    807-10	Functional polymorphisms of CD14 and toll-like receptor 4 in Taiwanese Chinese with Helicobacter pylori-related gastric malignancies		158120		CDC	2006	These data suggest no apparent association of CD14 polymorphisms with H.											
145250	N	C-reactive protein myocardial infarct	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Myocardial Infarction|Genetic Predisposition to Disease	5	5q22-q32	CD14	139991500	139993439		Lorenzova, A.  et al. 2007	17617027				CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Clin Chem Lab Med    2007    45(7)    855-61	High-sensitivity C-reactive protein concentration in patients with myocardial infarction-environmental factors, and polymorphisms in interleukin-10 and CD14 genes		158120		CDC	2007	There was no association between IL-10 and CD14 polymorphisms and myocardial infarction occurrence. Gene-environment interaction may play an important role in influencing hsCRP concentration. Clin Chem Lab Med 2007;45:855-61.		smoking (tobacco)									
145273		osteoarthritis	METABOLIC	MET	Osteoarthritis, Knee|Disease Progression|Genetic Predisposition to Disease	7	7q11.2	CD36	79836826	80144261		Valdes, A. M.  et al. 2006	16453284				CD36 antigen (collagen type I receptor, thrombospondin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001548.1		Great Britain	CDC GDP info	948	Hs.120949			Arthritis Rheum    2006    54(2)    533-539	Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women		173510		CDC	2006	We found that genes previously identified by their association with subclinical features of knee OA or progression were also associated with clinical knee OA.											
145280	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Diabetic Angiopathies|Disease Progression	20	20q12-q13.2	CD40	44180312	44191791		Burdon, K. P.  et al. 2006	16504636				CD40 antigen (TNF receptor superfamily member 5)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001250.4			CDC GDP info	958	Hs.472860			Am Heart J    2006    151(3)    706-11	Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS)		109535		CDC	2006	Genetic variation in the CD40 gene is associated with CAC in diabetic families.											
145293	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	3	3q21	CD86	123256910	123322673		Abdallah, A. M.  et al. 2006	16712644			promoter	CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_175862.3			CDC GDP info	942	Hs.171182			Int J Immunogenet    2006    33(3)    155-161	A polymorphism in the promoter region of the CD86 (B7.2) gene is associated with systemic sclerosis		601020		CDC	2006												
145298		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q21.1	CDC2	62208241	62223930		Liang, X.  et al. 2006	17159347				Cell division cycle 2, G1 to S and G2 to M	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001786.2	Caucasian		CDC GDP info	983	Hs.334562			Dement Geriatr Cogn Disord    2006    23(2)    126-132	Association Analysis of Genetic Polymorphisms in the CDC2 Gene with Late-Onset Alzheimer Disease		116940		CDC	2006	Our results suggest that if any contribution of common genetic variants in CDC2 to the risk of developing AD exists, it is likely to be very small.											
145302	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q31.1	CDC42SE2	130627600	130758281		Chen, X.  et al. 2006	17030554				CDC42 small effector 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC058909	German;Irish		CDC GDP info	56990	Hs.508829			Hum Mol Genet    2006	Haplotypes spanning SPEC2, PDZ-G EF2 and ACSL6 genes are associated with schizophrenia				CDC	2006												
145307		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Neoplasm Recurrence, Local	16	16q22.1	CDH1	67328695	67426945		Lin, J.  et al. 2006	16922727			promoter	Cadherin 1, type 1, E-cadherin (epithelial)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004360.2	Caucasian		CDC GDP info	999	Hs.461086			Clin Genet    2006    70(3)    240-5	E-cadherin promoter polymorphism (C-160A) and risk of recurrence in patients with superficial bladder cancer		192090		CDC	2006												
145311	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	12	12q13	CDK2	54646825	54652835		Gayther, S. A et al.  et al. 2007	17409409				Cyclin-dependent kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001798			CDC GDP info	1017	Hs.19192			Cancer Res    2007    67(7)    3027-35	Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer		116953		CDC	2007	we have found evidence that a single tagged SNP in both the CDKN2A and CDKN1B genes may be associated with reduced ovarian cancer risk.											
145314		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	12	12q14	CDK4	56428269	56432431		Pjanova, D.  et al. 2007	17505264				Cyclin-dependent kinase 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000075.2	Polish		CDC GDP info	1019	Hs.95577			Melanoma Res    2007    17(3)    185-191	CDKN2A and CDK4 variants in Latvian melanoma patients		123829		CDC	2007	our results show that germline mutations at the CDKN2A locus are rare in sporadic melanoma in Latvia.											
145319		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p22.3	CDKAL1	20642666	21340611		Scott, L. J. et al.  et al. 2007	17463248				CDK5 regulatory subunit associated protein 1-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128546	Finnish		CDC GDP info	54901	Hs.657604			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		611259		CDC	2007												
145320	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6p22.3	CDKAL1	20642666	21340611		Zeggini, E.  et al. 2007	17463249				CDK5 regulatory subunit associated protein 1-like 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK128546			CDC GDP info	54901	Hs.657604			Science    2007	Replication of Genome-Wide Association Signals in U.K. Samples Reveals Risk Loci for Type 2 Diabetes		611259		CDC	2007												
145327		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	6	6p21.2	CDKN1A	36754464	36763087		Popanda, O.  et al. 2006	17059853				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Lung Cancer    2006	Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles of the TP53 Arg72Pro and p21 Ser31Arg polymorphisms		116899		CDC	2006			smoking (tobacco)									
145329	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Cox, A. et al  et al. 2007	17293864				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDP info	1026	Hs.370771			Nat Genet    2007	A common coding variant in CASP8 is associated with breast cancer risk		116899		CDC	2007												
145336		leukemia	CANCER	CAN	Genetic Predisposition to Disease	12	12p13.1-p12	CDKN1B	12761575	12766570		Healy, J.  et al. 2006	17008550			promoter	Cyclin-dependent kinase inhibitor 1B (p27, Kip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004064.2	Canadian;French		CDC GDP info	1027	Hs.238990			Blood    2006	Promoter SNPs in G1/S checkpoint regulators and their impact on the susceptibility to childhood leukemia		600778		CDC	2006												
145343		head and neck cancer	CANCER	CAN	Head and Neck Neoplasms	9	9p21	CDKN2A	21957750	21965038		Kraunz, K. S.  et al. 2006	16618779				cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397			CDC GDP info	1029	Hs.512599			Cancer Res    2006    66(8)    4512-5	Duration but not Intensity of Alcohol and Tobacco Exposure Predicts p16INK4A Homozygous Deletion in Head and Neck Squamous Cell Carcinoma		600160		CDC	2006			alcohol smoking (tobacco)									
145356	Y	pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	9	9p21	CDKN2A	21957750	21965038		Chen, J.  et al. 2007	17505013	p16 C580T			cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ945397	Caucasian		CDC GDP info	1029	Hs.512599			Clin Cancer Res    2007    13(10)    3100-3104	Aurora-A and p16 Polymorphisms Contribute to an Earlier Age at Diagnosis of Pancreatic Cancer in Caucasians		600160		CDC	2007	Our findings suggest that the Aurora-A polymorphism contributes to a significantly earlier age at diagnosis of pancreatic cancer, and that Aurora-A and p16 C580T polymorphisms synergistically contribute to an earlier age at diagnosis of pancreatic cancer.											
145362		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		Scott, L. J. et al.  et al. 2007	17463248				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3	Finnish		CDC GDP info	1030	Hs.72901			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		600431		CDC	2007												
145365	Y	diabetes, type 2 hypertension lipoprotein	CARDIOVASCULAR	CARD	Coronary Disease|Coronary Artery Disease|Genetic Predisposition to Disease	9	9p21	CDKN2B	21992901	21999312		McPherson, R.  et al. 2007	17478681				Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004936.3	Caucasian		CDC GDP info	1030	Hs.72901			Science    2007	A Common Allele on Chromosome 9 Associated with Coronary Heart Disease		600431		CDC	2007												
145368		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	CDSN	31190848	31196202		Nair, R. P.  et al. 2006	16642438				Corneodesmosin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001264.3			CDC GDP info	1041	Hs.556031			Am J Hum Genet    2006    78(5)    827-51	Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene		602593		CDC	2006												
145398	Y	choroidal neovascularization geographic atrophy macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization|Atrophy	1	1q32	CFH	194887763	194983257		Sepp, T.  et al. 2006	16431947				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2006    47(2)    536-40	Complement Factor H Variant Y402H Is a Major Risk Determinant for Geographic Atrophy and Choroidal Neovascularization in Smokers and Nonsmokers		134370		CDC	2006	The CFH Y402H variant is strongly associated with both GA and CNV in the U.		smoking (tobacco)									
145405	Y	macular degeneration	VISION	VIS	Macular Degeneration	1	1q32	CFH	194887763	194983257		Schaumberg, D. A.  et al. 2006	16723442				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Invest Ophthalmol Vis Sci    2006    47(6)    2336-40	A Prospective Assessment of the Y402H Variant in Complement Factor H, Genetic Variants in C-Reactive Protein, and Risk of Age-Related Macular Degeneration		134370		CDC	2006	These prospective data confirmed an association between the Y402H variant of CFH and a risk of AMD.											
145406		macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Simonelli, F.  et al. 2006	16774956				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Italian		CDC GDP info	3075	Hs.363396			Br J Ophthalmol    2006	Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age-related macular degeneration in an Italian population		134370		CDC	2006	The association between the p.											
145419	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	1	1q32	CFH	194887763	194983257		Kokubo, Y.  et al. 2006	17137217				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		134370		CDC	2006												
145427	Y	macular degeneration	VISION	VIS	Macular Degeneration|Choroidal Neovascularization	1	1q32	CFH	194887763	194983257		Scott, W. K.  et al. 2007	17241667	CFH T1277C			Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Ophthalmology    2007	Independent Effects of Complement Factor H Y402H Polymorphism and Cigarette Smoking on Risk of Age-Related Macular Degeneration		134370		CDC	2007	These results suggest that cigarette smoking and T1277C are independent risk factors for AMD and that both risk factors are associated more strongly with neovascular AMD than all forms of AMD combined.		smoking (tobacco)									
145431		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Macular Degeneration|Coronary Artery Disease|Genetic Predisposition to Disease	1	1q32	CFH	194887763	194983257		Pulido, J. S.  et al. 2007	17352366				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2			CDC GDP info	3075	Hs.363396			Mayo Clin Proc    2007    82(3)    301-7	Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease		134370		CDC	2007	The CFH genotype may have an independent association with CAD, although our evidence did not show statistical significance.											
145437	Y	macular degeneration	VISION	VIS		1	1q32	CFH	194887763	194983257		Goverdhan, S. V.  et al. 2007	17464302				Complement factor H	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000186.2	Caucasian		CDC GDP info	3075	Hs.363396			Eye    2007	An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment		134370		CDC	2007	In this UK cohort of AMD patients, the CFH Y402H variant was significantly enriched in patients with predominantly classic CNV.											
145449		macular degeneration	VISION	VIS	Macular Degeneration	1	1q22-q23	CFHR5	195213330	195245427		Hageman, G. S.  et al. 2006	17438673				Complement factor H-related 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF295327			CDC GDP info	81494	Hs.282594			Ann Med    2006    38(8)    592-604	Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration				CDC	2006	The absence of CFHR1 and/or CFHR3 may account for the protective effects conferred by some CFH haplotypes. Moreover, the high frequencies of the 402H allele and the delCFHR1/CFHR3 alleles in African populations suggest an ancient origin for these alleles. The considerable diversity accumulated at this locus may be due to selection, which is consistent with a											
145465		cystic fibrosis	OTHER	OTH		7	7q31.2	CFTR	116893073	117095954		Viel, M.  et al. 2007	17560176				Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000492.3			CDC GDP info	1080	Hs.489786			J Cyst Fibros    2007	ENaCbeta and gamma genes as modifier genes in cystic fibrosis		602421		CDC	2007	Our results suggest that genetic variants in ENaCbeta and gamma genes do not modulate disease severity in the majority of CF patients.											
145470	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	10	10q11.2	CHAT	50487146	50543156		Shi, J.  et al. 2007	17373692				Choline acetyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020549.3			CDC GDP info	1103	Hs.302002			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118490		CDC	2007												
145482	Y	upper aerodigestive tract cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms	22	22q11	CHEK2	27413730	27467822		Hall, J.  et al. 2006	17040931				CHK2 checkpoint homolog (S. pombe)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007194.3	Romania, Poland, Russia, Slovakia and the Czech Republic		CDC GDP info	11200	Hs.291363			Carcinogenesis    2006	The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract		604373		CDC	2006												
145498		blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	14	14q32	CHGA	92459244	92471389		Rao, F.  et al. 2007	17438154				Chromogranin A (parathyroid secretory protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001275			CDC GDP info	1113	Hs.150793			Circulation    2007	Catecholamine Release Inhibitory Peptide Catestatin (Chromogranin A352-372). Naturally Occurring Amino Acid Variant Gly364Ser Causes Profound Changes in Human Autonomic Activity and Alters Risk for Hypertension		118910		CDC	2007	The catestatin Gly364Ser variant causes profound changes in human autonomic activity, both parasympathetic and sympathetic, and seems to reduce risk of developing hypertension, especially in men.											
145506	Y	memory performance	PSYCH	PSY	Memory Disorders|Schizophrenia	15	15q13.1	CHRFAM7A	28440734	28473156		Dempster, E. L.  et al. 2006	17012698				CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139320			CDC GDP info	89832	Hs.510853			Am J Psychiatry    2006    163(10)    1832-4	"Episodic memory performance predicted by the 2bp deletion in exon 6 of the ""alpha 7-like"" nicotinic receptor subunit gene "				CDC	2006	These observations indicate that episodic memory function is a schizophrenia endophenotype and implicate the CHRFAM7A/CHRNA7 locus in modulating its function.											
145517	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	1	1q41-q44	CHRM3	237616487	238139340		Shi, J.  et al. 2007	17373692				Cholinergic receptor, muscarinic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000740.2			CDC GDP info	1131	Hs.7138			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118494		CDC	2007												
145529		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Vasto, S.  et al. 2006	16608406				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Rejuvenation Res    2006    9(1)    107-10	The nACHR4 594C/T Polymorphism in Alzheimer Disease		118504		CDC	2006												
145533	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118504		CDC	2007												
145535	N	exfoliation syndrome	VISION	VIS	Exfoliation Syndrome	20	20q13.2-q13.3	CHRNA4	61445108	61479933		Ritland, J. S.  et al. 2007	17488453				Cholinergic receptor, nicotinic, alpha polypeptide 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000744.3			CDC GDP info	1137	Hs.10734			Acta Ophthalmol Scand    2007    85(3)    257-61	Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome		118504		CDC	2007	We found no significant difference in RNFL thickness at the optic disc in the different genotype carriers of the APOE and CHRNA4 genes, and thereby no evidence for increased loss of ganglion cells in the retina as an effect of these genes.											
145542	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	8	8p11.21	CHRNA6	42726936	42742776		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004198			CDC GDP info	8973	Hs.103128			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder				CDC	2007												
145553		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q21.3	CHRNB2	152806880	152818977		Bertram, L.  et al. 2007	17192785				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDP info	1141	Hs.591493			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		118507		CDC	2007	odds ratios (ranging from 1.											
145557		cognitive function	PSYCH	PSY		1	1q21.3	CHRNB2	152806880	152818977		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000748.1			CDC GDP info	1141	Hs.591493			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118507		CDC	2007			smoking (tobacco)									
145562	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	15	15q24	CHRNB4	76703690	76720642		Shi, J.  et al. 2007	17373692				Cholinergic receptor, nicotinic, beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U48861			CDC GDP info	1143	Hs.624178			Am J Med Genet B Neuropsychiatr Genet    2007	No evidence for association between 19 cholinergic genes and bipolar disorder		118509		CDC	2007												
145575	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized	3	3q27-q28	CLCN2	185547087	185561961		Stogmann, E.  et al. 2006	16932951				Chloride channel 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004366.2			CDC GDP info	1181	Hs.436847			Neurogenetics    2006	Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes		600570		CDC	2006	mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.											
145578	N	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension|Disease Progression	1	1p36	CLCNKB	16221072	16256063		Fava, C.  et al. 2007	17143181				Chloride channel Kb	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000085.1		Sweden	CDC GDP info	1188	Hs.352243			J Hypertens    2007    25(1)    111-6	The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes		602023		CDC	2007	Our data do not support a role of the CLC-Kb T481S polymorphism in BP regulation in Swedes.											
145596	N	sarcoidosis	IMMUNE	IMM	Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	14	14q11.2	CMA1	24044551	24047311		Kruit, A.  et al. 2006	16446531				Chymase 1, mast cell	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001836.2			CDC GDP info	1215	Hs.135626			Respiration    2006	Chymase Gene (CMA1) Polymorphisms in Dutch and Japanese Sarcoidosis Patients		118938		CDC	2006	The CMA1 polymorphisms studied do not contribute to disease susceptibility in Japanese or Dutch sarcoidosis patients.											
145598		polyneuropathy	NEUROLOGICAL	NEUR	Charcot-Marie-Tooth Disease|Polyneuropathies	17	17p13.1-q12	PMP22	15073820	15109369		Szigeti, K.  et al. 2006	16481890				peripheral myelin protein 22	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000304.2			CDC GDP info	5376	Hs.372031			Genet Med    2006    8(2)    86-92	Charcot-Marie-Tooth disease and related hereditary polyneuropathies		601097		CDC	2006	CMT represents a heterogeneous group of disorders at the molecular level.											
145601	Y	diabetes, type 2 kidney failure, chronic	METABOLIC	MET	Diabetic Nephropathies|Kidney Failure, Chronic|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	18	18q22.3	CNDP1	70352671	70403241		Freedman, B. I.  et al. 2007	17205963				Carnosine dipeptidase 1 (metallopeptidase M20 family)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032649.5	Caucasian;European	United States|Europe	CDC GDP info	84735	Hs.400613			Nephrol Dial Transplant    2007	A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans				CDC	2007	European Americans homozygous for the 5-5 leucine repeat polymorphism in the CNDP1 gene are at significantly reduced risk for developing diabetic ESRD. This replicates the CNDP1 gene association with DN that was initially detected in European Caucasians and in Arabs, and further demonstrates that the CNDP1 gene and carnosine pathway appear to play a role in											
145607	Y	schizophrenia substance abuse	PSYCH	PSY	Schizophrenia	6	6q14-q15	CNR1	88906303	88932281		Martinez-Gras, I.  et al. 2006	16788767				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3		Spain	CDC GDP info	1268	Hs.75110			Eur Arch Psychiatry Clin Neurosci    2006	(AAT)n repeat in the cannabinoid receptor gene, CNR1		114610		CDC	2006												
145609		body mass obesity	METABOLIC	MET		6	6q14-q15	CNR1	88906303	88932281		Gazzerro, P.  et al. 2006	17160086				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDP info	1268	Hs.75110			Int J Obes (Lond)    2006	Association between cannabinoid type-1 receptor polymorphism and body mass index in a southern Italian population		114610		CDC	2006	Although performed in a limited number of subjects, our results show that the presence of the CB1 polymorphic allele was significantly associated with a lower BMI.											
145615		body mass cholesterol triglycerides	METABOLIC	MET		6	6q14-q15	CNR1	88906303	88932281		Aberle, J.  et al. 2007	17533584				Cannabinoid receptor 1 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016083.3			CDC GDP info	1268	Hs.75110			Horm Metab Res    2007    39(5)    395-7	Genetic Variation in Two Proteins of the Endocannabinoid System and their Influence on Body Mass Index and Metabolism under Low Fat Diet		114610		CDC	2007			diet									
145620	N	personality traits schizophrenia	PSYCH	PSY	Schizophrenia	11	11q12.2	CNTF	58146720	58149778		Nishiyama, J.  et al. 2006	16969278				ciliary neurotrophic factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000614.2			CDC GDP info	1270	Hs.632114			Psychiatr Genet    2006    16(5)    217-9	No association between the CNTF null mutation and schizophrenia or personality		118945		CDC	2006												
145623		ossification of spine	METABOLIC	MET	Ossification of Posterior Longitudinal Ligament|Genetic Predisposition to Disease	6	6p21.3	COL11A2	33238446	33268223		Horikoshi, T.  et al. 2006	16609882				Collagen, type XI, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_080680.1			CDC GDP info	1302	Hs.390171			Hum Genet    2006    119(6)    611-6	A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine		601868		CDC	2006												
145626	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	21	21q22.3	COL18A1	45649524	45758062		Kim, J. G.  et al. 2007	17482599				Collagen, type XVIII, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030582.2	Korean		CDC GDP info	80781	Hs.517356			Fertil Steril    2007	Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women		120328		CDC	2007												
145631	N	osteoporosis	METABOLIC	MET	Osteoporosis|Cystic Fibrosis	17	17q21.3-q22.1	COL1A1	45616455	45633999		Castellani, C.  et al. 2006	16713399				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2			CDC GDP info	1277	Hs.172928			J Cyst Fibros    2006	The genetic background of osteoporosis in cystic fibrosis		120150		CDC	2006	There was no evidence that the genes under study, with the possible exception of ESR1 gene variants, may modulate bone phenotype in CF.											
145636	N	bone density osteoporosis	METABOLIC	MET	Osteoporosis|Fractures, Bone	17	17q21.3-q22.1	COL1A1	45616455	45633999		Hubacek, J.A. et al. 2006	17201588				Collagen, type I, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000088.2	Caucasian		CDC GDP info	1277	Hs.172928			Endocr Regul    2006    40(4)    107-12	NO ASSOCIATIONS BETWEEN GENETIC POLYMORPHISMS OF TGFss, PAI-1, AND COL1A1, AND BONE MINERAL DENSITY IN CAUCASIAN FEMALES		120150		CDC	2006												
145648	Y	disc degeneration, lumbar spine	AGING	AGE	Intervertebral Disk Displacement|Genetic Predisposition to Disease	1	1p33-p32	COL9A2	40538749	40555647		Higashino, K.  et al. 2006	16586133				Collagen, type IX, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001852.3	Japanese;Finnish		CDC GDP info	1298	Hs.418012			Int Orthop    2006	The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine		120260		CDC	2006												
145657	P		NORMALVARIATION	NV		22	22q11.21-q11.23	COMT	18309308	18336530		Hamajima, N.  et al. 2002	12718576				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	1312	Hs.370408			Asian Pac J Cancer Prev    2002    3    197-206	Allele Frequencies of 25 Polymorphisms Pertaining to Cancer Risk for Japanese, Koreans and Chinese.		116790		CDC	2002	The differences in genetic background may affect the impact on the lifestyle factors and/or genotypes examined in epidemiological studies. However, the influences of the variations in the allele frequency seemed to be limited among Japanese, Koreans, and Chinese. The substantial differences in the allele frequency from Caucasians could modify the influences of lifestyle factors and polymorphism genotypes, resulting in the inconsistent results of epidemiologic studies. 											
145662		panic disorder	PSYCH	PSY	Panic Disorder	22	22q11.21-q11.23	COMT	18309308	18336530			16538182				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Psychiatr Genet    2006    16(2)    59-65	Interaction of serotonergic and noradrenergic gene variants in panic disorder		116790		CDC	2006	This is the first possible interaction of genetic variations in panic disorder that has been observed.											
145667		schizophrenia	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Li, J. N.  et al. 2006	16606590				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Yi Chuan    2006    28(4)    403-6	An Association Study between Paranoid Schizophrenia and Four Genes Involved in Dopamine Metabolism.		116790		CDC	2006												
145673		alcoholism attention deficit hyperactivity disorder	CHEMDEPENDENCY	CHEM	Alcohol Withdrawal Delirium|Alcoholism|Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	22	22q11.21-q11.23	COMT	18309308	18336530		Kim, J. W.  et al. 2006	16679343				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Korean		CDC GDP info	1312	Hs.370408			Alcohol Alcohol    2006	CLINICAL AND GENETIC CHARACTERISTICS OF KOREAN MALE ALCOHOLICS WITH AND WITHOUT ATTENTION DEFICIT HYPERACTIVITY DISORDER		116790		CDC	2006	The results of this study suggest that the comorbidity of alcohol dependence and ADHD in this Korean sample forms a distinct clinical phenotype that shows an increased severity of alcohol-related symptoms and behavioural/emotional problems and that ADHD is associated with$$$ an increased risk for the early onset of alcohol dependence in Korean male alcoholics.											
145679	N	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Szoke, A.  et al. 2006	16741933				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Am J Med Genet B Neuropsychiatr Genet    2006	Lack of influence of COMT and NET genes variants on executive functions in schizophrenic and bipolar patients, their first-degree relatives and controls		116790		CDC	2006												
145681		suicide	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Cheng, W. W.  et al. 2006	16780746				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		China	CDC GDP info	1312	Hs.370408			Zhonghua Nei Ke Za Zhi    2006    45(5)    403-5	The relationship between gene polymorphism of catechol-O-methyltransferase and survival of oral pesticides suicide attempters.		116790		CDC	2006	In this population, more attention should be paid to young female people with psychiatric disorders or having affective conflicts with others in the recent year so as to prevent suicide.											
145686		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	22	22q11.21-q11.23	COMT	18309308	18336530		Numata, S.  et al. 2006	16897602				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			J Neural Transm    2006	Interaction between catechol-O-methyltransferase (COMT) Val108/158Met and brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms in age at onset and clinical symptoms in schizophrenia		116790		CDC	2006												
145690		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Manuguerra, M. et al  et al. 2006	16956909				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		116790		CDC	2006												
145695		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Rebbeck, T. R.  et al. 2006	16985250				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2		Philadelphia	CDC GDP info	1312	Hs.370408			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		116790		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
145700	N	sex hormones	PHARMACOGENOMIC	PHARM	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Abrahamson, P. E.  et al. 2006	17077994				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	non-Hispanic		CDC GDP info	1312	Hs.370408			Breast Cancer Res Treat    2006	Associations between the CYP17, CYPIB1, COMT and SHBG polymorphisms and serum sex hormones in post-menopausal breast cancer survivors		116790		CDC	2006			tamoxifen									
145703		attention deficit hyperactivity disorder schizotypal personality traits	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity|Schizotypal Personality Disorder	22	22q11.21-q11.23	COMT	18309308	18336530		Ettinger, U.  et al. 2006	17109713				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	Caucasian		CDC GDP info	1312	Hs.370408			Psychiatry Clin Neurosci    2006    60(6)    764-7	Schizotypy, attention deficit hyperactivity disorder, and dopamine genes		116790		CDC	2006												
145708		personality traits	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Urata, T.  et al. 2006	17208375				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Neurosci Lett    2006	Gene-gene interaction analysis of personality traits in a Japanese population using an electrochemical DNA array chip analysis		116790		CDC	2006												
145711	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Song, C. G.  et al. 2006	17217814	COMT  Val158Met			Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Zhonghua Wai Ke Za Zhi    2006    44(19)    1310-3	Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer		116790		CDC	2006	Val158Met polymorphism in COMT gene could be a candidate for low penetrance breast cancer susceptibility in Shanghai population, especially among premenopausal women and early-onset breast cancer patients.											
145713	N	Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	22	22q11.21-q11.23	COMT	18309308	18336530		Bialecka, M.  et al. 2007	17270484				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Parkinsonism Relat Disord    2007	Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson(')s disease		116790		CDC	2007												
145717		breast cancer	CANCER	CAN	Breast Neoplasms	22	22q11.21-q11.23	COMT	18309308	18336530		Rebbeck, T. R.  et al. 2007	17372239				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2	African American;European	Pennsylvania	CDC GDP info	1312	Hs.370408			Cancer Epidemiol Biomarkers Prev    2007    16(3)    444-50	Pairwise combinations of estrogen metabolism genotypes in postmenopausal breast cancer etiology		116790		CDC	2007												
145724	Y	schizophrenia	PSYCH	PSY		22	22q11.21-q11.23	COMT	18309308	18336530		Zinkstok, J.  et al. 2007	17504246				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Genes Brain Behav    2007	Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia		116790		CDC	2007												
145729		premenstrual dysphoric disorder	REPRODUCTION	REP	Genetic Predisposition to Disease|Premenstrual Syndrome|Mood Disorders	22	22q11.21-q11.23	COMT	18309308	18336530		Huo, L.  et al. 2007	17599809				Catechol-O-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000754.2			CDC GDP info	1312	Hs.370408			Biol Psychiatry    2007	Risk for Premenstrual Dysphoric Disorder Is Associated with Genetic Variation in ESR1, the Estrogen Receptor Alpha Gene		116790		CDC	2007	These are the first positive (albeit preliminary) genetic findings in this reproductive endocrine-related mood disorder and involve the receptor for a hormone that is pathogenically relevant.											
145736	Y	neurobehavioral response	PHARMACOGENOMIC	PHARM	Mercury Poisoning, Nervous System|Genetic Predisposition to Disease|Cognition Disorders|Depressive Disorder	3	3q12	CPOX	99780979	99795131			16343843				Coproporphyrinogen oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC023551			CDC GDP info	1371	Hs.476982			Neurotoxicol Teratol    2005	The association between a genetic polymorphism of coproporphyrinogen oxidase, dental mercury exposure and neurobehavioral response in humans				CDC	2005			mercury									
145743		myopathy, drug-induced	METABOLIC	MET	Muscular Diseases|Glycogen Storage Disease Type V	1	1p32	CPT2	53434688	53452455		Vladutiu, G. D.  et al. 2006	16671104				Carnitine palmitoyltransferase II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000098.1			CDC GDP info	1376	Hs.274336			Muscle Nerve    2006	Genetic risk factors associated with lipid-lowering drug-induced myopathies		600650		CDC	2006												
145755		cleft lip with cleft palate cleft lip without cleft palate cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Craniofacial Abnormalities|Cleft Lip|Mouth Abnormalities	17	17q12-q22	CRHR1	41217448	41268973		Park, J. W.  et al. 2006	16415175				Corticotropin releasing hormone receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004382.2			CDC GDP info	1394	Hs.417628			J Med Genet    2006    43(7)    598-608	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts		122561		CDC	2006	This approach demonstrates how statistical evidence on large numbers of SNP markers typed in case-parent trios can be combined with expression data to identify candidate genes for complex disorders. Many of the genes reported here have not been previously studied as candidates for oral clefts and warrant further investigation.											
145770		macular degeneration	VISION	VIS	Macular Degeneration	1	1q21-q23	CRP	157948702	157951003		Schaumberg, D. A.  et al. 2006	16723442				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Invest Ophthalmol Vis Sci    2006    47(6)    2336-40	A Prospective Assessment of the Y402H Variant in Complement Factor H, Genetic Variants in C-Reactive Protein, and Risk of Age-Related Macular Degeneration		123260		CDC	2006	These prospective data confirmed an association between the Y402H variant of CFH and a risk of AMD.											
145775		arterial pulse wave velocity C-reactive protein	CARDIOVASCULAR	CARD	Arteriosclerosis|Hypertension|Genetic Predisposition to Disease	1	1q21-q23	CRP	157948702	157951003		Morita, A.  et al. 2006	16832152				C-reactive protein, pentraxin-related	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000567.2			CDC GDP info	1401	Hs.76452			Hypertens Res    2006    29(5)    323-31	Polymorphism of the C-reactive protein (CRP) gene is related to serum CRP Level and arterial pulse wave velocity in healthy elderly Japanese		123260		CDC	2006												
145816		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	20	20p11.21	CST3	23556533	23566574		Bertram, L.  et al. 2007	17192785				Cystatin C (amyloid angiopathy and cerebral hemorrhage)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000099.2			CDC GDP info	1471	Hs.304682			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		604312		CDC	2007	odds ratios (ranging from 1.											
145826	Y	kidney transplant	RENAL	REN	Acute Disease	2	2q33	CTLA4	204440753	204446928		Wisniewski, A.  et al. 2006	16504663			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Transplant Proc    2006    38(1)    56-8	Possible association of cytotoxic T-lymphocyte antigen 4 gene promoter single nucleotide polymorphism with acute rejection of allogeneic kidney transplant		123890		CDC	2006												
145829		breast cancer	CANCER	CAN	Breast Neoplasms	2	2q33	CTLA4	204440753	204446928			16527605			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Cancer Genet Cytogenet    2006    165(2)    114-20	Cytotoxic T lymphocyte antigen-4 promoter variants in breast cancer		123890		CDC	2006												
145840		psoriasis	IMMUNE	IMM	Psoriasis	2	2q33	CTLA4	204440753	204446928		Luszczek, W.  et al. 2006	16712655				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Int J Immunogenet    2006    33(3)    217-224	CTLA-4 gene polymorphisms and natural soluble CTLA-4 protein in psoriasis vulgaris		123890		CDC	2006												
145841		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Maier, L. M.  et al. 2006	16750991				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		123890		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
145848	Y	ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	2	2q33	CTLA4	204440753	204446928		Zhou, F.  et al. 2006	16831326			promoter	Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Zhonghua Nei Ke Za Zhi    2006    45(6)    478-81	Cytotoxic T lymphocyte antigen-4 promoter gene polymorphism is significantly associated with ulcerative colitis.		123890		CDC	2006	The G allele of CTLA-4 promoter -1661 polymorphism showed a highly significant association with UC in Han Chinese of the central China.											
145865	Y	hepatitis C	INFECTION	INF	Hepatitis C, Chronic|Liver Cirrhosis	2	2q33	CTLA4	204440753	204446928		Schott, E.  et al. 2006	17150279				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Hepatol    2006	Gender-dependent association of CTLA4 polymorphisms with resolution of hepatitis C virus infection		123890		CDC	2006	CTLA4 polymorphisms are associated with the resolution of HCV infection.		HCV genotypes interferon									
145870		inhibitor development, hemophilia A-related	HEMATOLOGICAL	HEM	Hemophilia A	2	2q33	CTLA4	204440753	204446928		Astermark, J.  et al. 2007	17269936				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			J Thromb Haemost    2007    5(2)    263-5	Polymorphisms in the CTLA-4 gene and inhibitor development in patients with severe hemophilia A		123890		CDC	2007												
145874	Y	diabetes, type 1 thyroid autoimmunity	IMMUNE	IMM	Diabetes Mellitus, Type 1	2	2q33	CTLA4	204440753	204446928		Howson, J. M.  et al. 2007	17334650				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3			CDC GDP info	1493	Hs.247824			Diabetologia    2007    50(4)    741-746	A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene		123890		CDC	2007	 Our results identify a subgroup of type 1 diabetic patients that is sensitive to allelic variation of the negative regulatory molecule CTLA-4 and indicate that TPOAbs testing could be used to subclassify type 1 diabetes patients for inclusion in genetic, biological or clinical studies.											
145882	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Autoimmune Diseases|Genetic Predisposition to Disease	2	2q33	CTLA4	204440753	204446928		Balbi, G.  et al. 2007	17459075	CTLA4   -318 C/T and +49 A/G			Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Italian		CDC GDP info	1493	Hs.247824			Clin Exp Immunol    2007	Association of -318 C/T and +49 A/G cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphisms with a clinical subset of Italian patients with systemic sclerosis		123890		CDC	2007												
145900		sepsis	INFECTION	INF	Sepsis	14	14q11.2	CTSG	24112563	24115306		Sipahi, T.  et al. 2006	16444434				Cathepsin G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001911.2			CDC GDP info	1511	Hs.421724			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		116830		CDC	2006												
145907		HIV	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Puissant, B.  et al. 2006	16478397				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			AIDS Res Hum Retroviruses    2006    22(2)    153-62	Analysis of CCR5, CCR2, CX(3)CR1, and SDF1 Polymorphisms in HIV-Positive Treated Patients		601470		CDC	2006			antiretroviral									
145914		HIV	INFECTION	INF	HIV Infections	3	3p21	CX3CR1	39279988	39296531		Suresh, P.  et al. 2006	16865553				Chemokine (C-X3-C motif) receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001337.3			CDC GDP info	1524	Hs.78913			J Clin Immunol    2006	Gene Polymorphisms in CCR5, CCR2, CX3CR1, SDF-1 and RANTES in Exposed but Uninfected Partners of HIV-1 Infected Individuals in North India		601470		CDC	2006												
145920	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Atherosclerosis|Genetic Predisposition to Disease|Inflammation	10	10q11.1	CXCL12	44185610	44200548		Apostolakis, S.  et al. 2006	16480760				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			Thromb Res    2006	Effects of polymorphisms in chemokine ligands and receptors on susceptibility to coronary artery disease		600835		CDC	2006	The study confers additional data in the field of genetic predisposition to CAD: it confirms the atheroprotective effect of the M280 variant in a completely different population and supports the role of the fractalkine-CX3CR1 pathway in atherosclerosis.											
145921		HIV	INFECTION	INF	HIV Infections|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Paz-y-Mino, C.  et al. 2005	16485782				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			Hum Biol    2005    77(4)    521-6	CCR5delta32, CCR2-64I, and SDF1-3'A polymorphisms related to resistance to HIV-1 infection and disease in the Ecuadorian population		600835		CDC	2005												
145928		stromal derived factor	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	10	10q11.1	CXCL12	44185610	44200548		Verma, R.  et al. 2007	17240189				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2	Indian;Asian		CDC GDP info	6387	Hs.522891			J Clin Virol    2007	Distribution of CCR5Delta32, CCR2-64I and SDF1-3'A and plasma levels of SDF-1 in HIV-1 seronegative North Indians		600835		CDC	2007												
145930		HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Hemophilia A|Disease Progression	10	10q11.1	CXCL12	44185610	44200548		Koizumi, Y.  et al. 2007	17530998				Chemokine (C-X-C motif) ligand 12 (stromal cell-derived factor 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199168.2			CDC GDP info	6387	Hs.522891			AIDS Res Hum Retroviruses    2007    23(5)    713-719	RANTES -28G Delays and DC-SIGN - 139C Enhances AIDS Progression in HIV Type 1-Infected Japanese Hemophiliacs		600835		CDC	2007												
145937		non-Hodgkin lymphoma	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	16	16q24	CYBA	87237197	87244958			16543247				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			Carcinogenesis    2006	Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma		608508		CDC	2006												
145950	Y	cardiac death cardiovascular disease oxidative stress	CARDIOVASCULAR	CARD		16	16q24	CYBA	87237197	87244958		Grahl, D. A.  et al. 2007	17337886				Cytochrome b-245, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000101.2			CDC GDP info	1535	Hs.513803			Blood Purif    2007    25(2)    210-218	Associations between the CYBA 242C/T and the MPO -463G/A Polymorphisms, Oxidative Stress and Cardiovascular Disease in Chronic Kidney Disease Patients		608508		CDC	2007												
145958		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	15	15q23-q24	CYP11A1	72417156	72447020		Wang, Y.  et al. 2006	16764871			promoter	Cytochrome P450, family 11, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000781.1		China	CDC GDP info	1583	Hs.303980			Fertil Steril    2006	A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome		118485		CDC	2006												
145987		hypertension	CARDIOVASCULAR	CARD	Hypertension|Genetic Predisposition to Disease	8	8q21-q22	CYP11B2	143988976	143996261		Freitas, S. R.  et al. 2007	17334527				Cytochrome P450, family 11, subfamily B, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000498.2	Brazilian		CDC GDP info	1585	Hs.632054			Braz J Med Biol Res    2007    40(3)    309-16	Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension		124080		CDC	2007												
145994			NORMALVARIATION	NV		10	10q24.3	CYP17A1	104580277	104587280		Hamajima, N.  et al. 2002	12164325				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			J Epidemiol    2002    12    229-36	Genotype frequencies of 50 polymorphisms for 241 Japanese non-cancer patients.		202110		CDC	2002	Although microarray technology will produce this kind of information in near future, this is the first document that reports the genotype/allele frequencies among Japanese for an archival purpose. 											
146000		adenomyosis endometriosis	REPRODUCTION	REP	Endometriosis	10	10q24.3	CYP17A1	104580277	104587280			16527884				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Hum Reprod    2006	CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women		202110		CDC	2006	The COMT gene significantly influences the risk of adenomyosis but not endometriosis.											
146004	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	10	10q24.3	CYP17A1	104580277	104587280		Damaraju, S.  et al. 2006	16638864				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		202110		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
146008		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Yang, J.  et al. 2006	16720291				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3		China	CDC GDP info	1586	Hs.438016			Front Biosci    2006    11    2052-60	Polymorphisms of metabolic enzyme genes, living habits and prostate cancer susceptibility		202110		CDC	2006			alcohol drinking behavior sexual history smoking (tobacco) tea toxicant									
146012		ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Yazici, H.  et al. 2006	16783967				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Oncol Res    2006    16(1)    43-7	Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?		202110		CDC	2006			family history									
146016		hepatic teatosis, tamoxifen-induced	PHARMACOGENOMIC	PHARM		10	10q24.3	CYP17A1	104580277	104587280		Ohnishi, T.  et al. 2005	16890174				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Hepatol Res    2005    33(2)    178-80	CYP17 polymorphism and tamoxifen-induced hepatic steatosis		202110		CDC	2005												
146020		bone density sex steroid	METABOLIC	MET		10	10q24.3	CYP17A1	104580277	104587280		Gorai, I.  et al. 2006	16971197				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3			CDC GDP info	1586	Hs.438016			Bone    2006	CYP17 and COMT gene polymorphisms can influence bone directly, or indirectly through their effects on endogenous sex steroids, in postmenopausal Japanese women		202110		CDC	2006												
146028		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	10	10q24.3	CYP17A1	104580277	104587280		Chakraborty, A.  et al. 2007	17235448				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	Indian	India	CDC GDP info	1586	Hs.438016			J Hum Genet    2007	CYP17 gene polymorphism and its association with high-risk north Indian breast cancer patients		202110		CDC	2007			family history									
146034		breast cancer	CANCER	CAN		10	10q24.3	CYP17A1	104580277	104587280		Justenhoven, C.  et al. 2007	17588204				Cytochrome P450, family 17, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000102.3	German		CDC GDP info	1586	Hs.438016			Breast Cancer Res Treat    2007	Breast cancer		202110		CDC	2007			body mass									
146040			NORMALVARIATION	NV	Genetic Diseases, Inborn|Genetic Predisposition to Disease	15	15q21.1	CYP19A1	49288961	49418086		Lee, J. K.  et al. 2003	12768436				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Japanese;Caucasian;Korean		CDC GDP info	1588	Hs.511367			J Hum Genet    2003    48    213-6	Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population.		107910		CDC	2003	Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies. 											
146048		height	DEVELOPMENTAL	DEV		15	15q21.1	CYP19A1	49288961	49418086		Yang, T. L.  et al. 2006	16733710				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Caucasian		CDC GDP info	1588	Hs.511367			Hum Genet    2006	Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families		107910		CDC	2006												
146062		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual	15	15q21.1	CYP19A1	49288961	49418086		Suryanaryana, V. V.  et al. 2007	17359589				Cytochrome P450, family 19, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000103.2	Indian		CDC GDP info	1588	Hs.511367			Reprod Biomed Online    2007    14(3)    341-7	Role of CYP17 and CYP19 polymorphisms in idiopathic recurrent miscarriages among South Indian women		107910		CDC	2007												
146072		adenomyosis endometriosis	REPRODUCTION	REP	Endometriosis	15	15q22-q24	CYP1A1	72798942	72804930			16527884				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Hum Reprod    2006	CYP17, CYP1A1 and COMT polymorphisms and the risk of adenomyosis and endometriosis in Taiwanese women		108330		CDC	2006	The COMT gene significantly influences the risk of adenomyosis but not endometriosis.											
146082	Y	uterine fibroids	OTHER	OTH	Leiomyomatosis|Uterine Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Herr, D.  et al. 2006	16835796				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian		CDC GDP info	1543	Hs.72912			Arch Gynecol Obstet    2006	Cytochrome P2A13 and P1A1 gene polymorphisms are associated with the occurrence of uterine leiomyoma		108330		CDC	2006	The CYP 2A13 and CYP 1A1 SNPs are associated with uterine leiomyoma in a Caucasian population and may contribute to the understanding of the pathogenic mechanisms of uterine leiomyoma.											
146087		bone density sex steroid	METABOLIC	MET		15	15q22-q24	CYP1A1	72798942	72804930		Gorai, I.  et al. 2006	16971197				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Bone    2006	CYP17 and COMT gene polymorphisms can influence bone directly, or indirectly through their effects on endogenous sex steroids, in postmenopausal Japanese women		108330		CDC	2006												
146095		breast cancer	CANCER	CAN	Breast Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Sillanpaa, P.  et al. 2006	17063266				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian;Finnish		CDC GDP info	1543	Hs.72912			Breast Cancer Res Treat    2006	CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population		108330		CDC	2006			smoking (tobacco)									
146107		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Gonzalez, A.  et al. 2004	17361553				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Rev Biol Trop    2004    52(3)    591-600	Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility		108330		CDC	2004												
146111		ovarian cancer	CANCER	CAN	Ovarian Neoplasms	15	15q22-q24	CYP1A1	72798942	72804930		Holt, S. K.  et al. 2007	17372243				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	Caucasian	United States	CDC GDP info	1543	Hs.72912			Cancer Epidemiol Biomarkers Prev    2007    16(3)    481-9	Ovarian cancer risk and polymorphisms involved in estrogen catabolism		108330		CDC	2007												
146117		endometriosis	REPRODUCTION	REP	Endometriosis	15	15q22-q24	CYP1A1	72798942	72804930		Tsuchiya, M.  et al. 2007	17449539				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Mol Hum Reprod    2007	Interaction between cytochrome P450 gene polymorphisms and serum organochlorine TEQ levels in the risk of endometriosis		108330		CDC	2007			dioxin polychlorinated biphenyls									
146120		bladder cancer leukemia, myeloid lung cancer	CANCER	CAN	Leukemia, Myeloid|Lung Neoplasms|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	15	15q22-q24	CYP1A1	72798942	72804930		Vineis, P. et al.  et al. 2007	17496311				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2	European		CDC GDP info	1543	Hs.72912			Ann Oncol    2007	Genetic susceptibility according to three metabolic pathways in cancers of the lung and bladder and in myeloid leukemias in nonsmokers		108330		CDC	2007			smoking (tobacco)									
146123		breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage	15	15q22-q24	CYP1A1	72798942	72804930		Kuo, H. W.  et al. 2007	17512776				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Mutat Res    2007	Urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG) and genetic polymorphisms in breast cancer patients		108330		CDC	2007	it was found that oxygen radical generation occurred within carcinoma cells, but the role of polymorphism of specific genes in the development of breast cancer should be evaluated.											
146127		menarche menopause	REPRODUCTION	REP		15	15q22-q24	CYP1A1	72798942	72804930		Mitchell, E. S.  et al. 2007	17589376				Cytochrome P450, family 1, subfamily A, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000499.2			CDC GDP info	1543	Hs.72912			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		108330		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
146150		lung cancer	CANCER	CAN	Lung Neoplasms	15	15q24	CYP1A2	72828236	72835994		Gemignani, F.  et al. 2007	17259654				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Carcinogenesis    2007	Development of lung cancer before the age of 50		124060		CDC	2007												
146154	P	CYP1A2 activity	NORMALVARIATION	NV		15	15q24	CYP1A2	72828236	72835994		Ghotbi, R.  et al. 2007	17370067				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3	Swedish;Korean		CDC GDP info	1544	Hs.1361			Eur J Clin Pharmacol    2007	Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans		124060		CDC	2007	We found significant differences in CYP1A2 enzyme activity between Swedes and Koreans that could not be explained by environmental factors or the CYP1A2 haplotypes examined, despite differences in allele frequencies.		smoking (tobacco)									
146158	N	1-hydroxypyrene, urinary	METABOLIC	MET		15	15q24	CYP1A2	72828236	72835994		Chen, B.  et al. 2007	17498780				Cytochrome P450, family 1, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000761.3			CDC GDP info	1544	Hs.1361			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		124060		CDC	2007												
146176	Y	menarche	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Long, J. R.  et al. 2006	16766147				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Maturitas    2006	Polymorphisms of the CYP1B1 gene may be associated with the onset of natural menopause in Chinese women		601771		CDC	2006	the results from this study suggested that CYP1B1 genetic polymorphisms may be associated with the natural onset of menopause.											
146187		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	2	2p21	CYP1B1	38148249	38156796		Rebbeck, T. R.  et al. 2006	16985250				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2		Philadelphia	CDC GDP info	1545	Hs.154654			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		601771		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
146192		lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms	2	2p21	CYP1B1	38148249	38156796		Cote, M. L.  et al. 2006	17174438				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	African American;Caucasian		CDC GDP info	1545	Hs.154654			Lung Cancer    2006	Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans		601771		CDC	2006			family history smoking (tobacco)									
146197	Y	liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	2	2p21	CYP1B1	38148249	38156796		Jeannot, E.  et al. 2007	17363580				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		601771		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
146202		endometriosis	REPRODUCTION	REP	Endometriosis	2	2p21	CYP1B1	38148249	38156796		Tsuchiya, M.  et al. 2007	17449539				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Mol Hum Reprod    2007	Interaction between cytochrome P450 gene polymorphisms and serum organochlorine TEQ levels in the risk of endometriosis		601771		CDC	2007			dioxin polychlorinated biphenyls									
146206	N	1-hydroxypyrene, urinary	METABOLIC	MET		2	2p21	CYP1B1	38148249	38156796		Chen, B.  et al. 2007	17498780				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		601771		CDC	2007												
146209	Y	PAH-DNA adducts	METABOLIC	MET	Adenocarcinoma|Prostatic Neoplasms	2	2p21	CYP1B1	38148249	38156796		Nock, N. L.  et al. 2007	17548691				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2	African American;Caucasian		CDC GDP info	1545	Hs.154654			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1236-45	Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race		601771		CDC	2007			smoking (tobacco)									
146213		menarche menopause	REPRODUCTION	REP		2	2p21	CYP1B1	38148249	38156796		Mitchell, E. S.  et al. 2007	17589376				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			Menopause    2007	Association of estrogen-related polymorphisms with age at menarche, age at final menstrual period, and stages of the menopausal transition		601771		CDC	2007	Age at onset of late stage and FMP and age at menarche are associated with specific genetic polymorphisms in the estrogen biosynthesis and metabolism genes.											
146223		adrenal hyperplasia, congenital	DEVELOPMENTAL	DEV	Adrenal Hyperplasia, Congenital	6	6p21.3	CYP21A2	32114060	32117398		Wasniewska, M.  et al. 2007	17505149				Cytochrome P450, family 21, subfamily A, polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CD013987	European;Italian	Sicily	CDC GDP info	1589	Hs.278430			J Endocrinol Invest    2007    30(3)    181-5	In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype		201910		CDC	2007												
146244	Y	nicotine	CHEMDEPENDENCY	CHEM		19	19q13.2	CYP2A6	46041283	46048180		Benowitz, N. L.  et al. 2006	17112802				Cytochrome P450, family 2, subfamily A, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000762.4			CDC GDP info	1548	Hs.439056			Clin Pharmacol Ther    2006    80(5)    457-467	CYP2A6 genotype and the metabolism and disposition kinetics of nicotine		122720		CDC	2006	We provide novel pharmacokinetic and metabolic data on nicotine after systemic dosing in relation to common CYP2A6 genotypes.											
146263	Y	smoking behavior	PHARMACOGENOMIC	PHARM	Tobacco Use Disorder	19	19q13.2	CYP2B6	46189043	46216141		Lee, A. M.  et al. 2007	17223085	CYP2B6*6			Cytochrome P450, family 2, subfamily B, polypeptide 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000767.4			CDC GDP info	1555	Hs.1360			Biol Psychiatry    2007	CYP2B6 Genotype Alters Abstinence Rates in a Bupropion Smoking Cessation Trial		123930		CDC	2007	These data suggest that smokers with the CYP2B6*6 genotype have a higher liability to relapse on placebo and that they may be good candidates for bupropion treatment for smoking cessation.		bupropion									
146304		HIV	PHARMACOGENOMIC	PHARM	Acquired Immunodeficiency Syndrome|Genetic Predisposition to Disease	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Motsinger, A. A.  et al. 2006	17047492				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Pharmacogenet Genomics    2006    16(11)    837-45	Multilocus genetic interactions and response to efavirenz-containing regimens		124020		CDC	2006	Multilocus genetic interactions between variant drug metabolism and transporter genes may predict efavirenz pharmacokinetics and treatment responses.		efavirenz nelfinavir nucleoside analogues									
146316	Y	gliclazide pharmacokinetics	PHARMACOGENOMIC	PHARM		10	10q24.1-q24.3	CYP2C19	96437871	96602661		Zhang, Y.  et al. 2007	17298483				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1			CDC GDP info	1557	Hs.282409			Br J Clin Pharmacol    2007	Influence of CYP2C9 and CYP2C19 genetic polymorphisms on pharmacokinetics of gliclazide MR in Chinese subjects		124020		CDC	2007	The pharmacokinetics of gliclazide MR are affected mainly by CYP2C19 genetic polymorphism instead of CYP2C9 genetic polymorphism.											
146324		warfarin sensitivity	PHARMACOGENOMIC	PHARM	Hemorrhage	10	10q24.1-q24.3	CYP2C19	96437871	96602661		Lee, S.  et al. 2007	17424941				Cytochrome P450, family 2, subfamily C, polypeptide 19	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000769.1	Caucasian;Korean;Asian		CDC GDP info	1557	Hs.282409			Arch Pharm Res    2007    30(3)    344-9	CYP2C19 polymorphism in Korean patients on warfarin therapy		124020		CDC	2007												
146351		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	10	10q24	CYP2C9	96688429	96739137			16538176				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2			CDC GDP info	1559	Hs.282624			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		601130		CDC	2006												
146375	Y	warfarin sensitivity	PHARMACOGENOMIC	PHARM		10	10q24	CYP2C9	96688429	96739137		Tham, L. S.  et al. 2006	17015052				Cytochrome P450, family 2, subfamily C, polypeptide 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000771.2	Asian		CDC GDP info	1559	Hs.282624			Clin Pharmacol Ther    2006    80(4)    346-55	A warfarin-dosing model in Asians that uses single-nucleotide polymorphisms in vitamin K epoxide reductase complex and cytochrome P450 2C9		601130		CDC	2006	Warfarin dose requirements in Asians can be accurately predicted by use of a combination of patient demographics and a simplified genotyping approach for single variants in CYP2C9 and VKORC1.											
146410	Y	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	22	22q13.1	CYP2D6	40852444	40856827		Lane, H. Y.  et al. 2006	16633140				Cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000106.4			CDC GDP info	1564	Hs.333497			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain		124030		CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
146448		benzene toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Chen, Y.  et al. 2007	17178637				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Xenobiotica    2007    37(1)    103-12	Genetic polymorphisms involved in toxicant-metabolizing enzymes and the risk of chronic benzene poisoning in Chinese occupationally exposed populations		124040		CDC	2007												
146450		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	10	10q24.3-qter	CYP2E1	135190856	135224714		Bolufer, P.  et al. 2007	17367411				Cytochrome P450, family 2, subfamily E, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000773.3			CDC GDP info	1571	Hs.12907			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		124040		CDC	2007												
146457	P	nasopharyngeal cancer	CANCER	CAN		19	19q13.2	CYP2F1	46312192	46326121		Jiang, J.  et al. 2006	16883522				Cytochrome P450, family 2, subfamily F, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000774			CDC GDP info	1572	Hs.558318			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    383-7	Study on genetic polymorphisms of CYP2F1 gene in Guangdong population of China.		124070		CDC	2006	A lot of genetic polymorphism of CYP2F1 gene is found in Guangdong population of China.											
146472		nevirapine hepatotoxicity	PHARMACOGENOMIC	PHARM	HIV Infections|Liver Diseases	7	7q21.3-q22.1	CYP3A	98890599	99022355		Haas, D. W.  et al. 2006	16912957				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574				Clin Infect Dis    2006    43(6)    783-6	Pharmacogenetics of nevirapine-associated hepatotoxicity		124010		CDC	2006												
146492	N	kidney transplant	RENAL	REN		7	7q21.3-q22.1	CYP3A4	99192539	99219744		Hu, Y. F.  et al. 2006	17042920				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Exp Pharmacol Physiol    2006    33(11)    1093-8	Effects of genetic polymorphisms of cyp3a4, cyp3a5 and mdr1 on cyclosporine pharmacokinetics after renal transplantation		124010		CDC	2006	the present study shows that genetic polymorphisms in CYP3A5 may be responsible, in part, for the large interindividual variability of cyclosporine pharmacokinetics during the early phase after renal transplantation in Chinese patients.											
146496	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Berndt, S. I.  et al. 2007	17220347				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492	non-Hispanic		CDC GDP info	1574	Hs.654391			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		124010		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
146502		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Bolufer, P.  et al. 2007	17367411				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		124010		CDC	2007												
146507		nephrotoxicityy, drug-related	PHARMACOGENOMIC	PHARM	Kidney Failure, Chronic	7	7q21.3-q22.1	CYP3A4	99192539	99219744		Kuypers, D. R.  et al. 2007	17495880				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209492			CDC GDP info	1574	Hs.654391			Clin Pharmacol Ther    2007	CYP3A5 and CYP3A4 but not MDR1 Single-nucleotide Polymorphisms Determine Long-term Tacrolimus Disposition and Drug-related Nephrotoxicity in Renal Recipients		124010		CDC	2007												
146522		carvedilol pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Honda, M.  et al. 2006	16595916				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Biol Pharm Bull    2006    29(4)    772-8	Multiple regression analysis of pharmacogenetic variability of carvedilol disposition in 54 healthy Japanese volunteers		605325		CDC	2006												
146552		simvastatin pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Kim, K. A.  et al. 2007	17192506				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			J Clin Pharmacol    2007    47(1)    87-93	Effect of Polymorphic CYP3A5 Genotype on the Single-Dose Simvastatin Pharmacokinetics in Healthy Subjects		605325		CDC	2007												
146571		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	7	7q21.1	CYP3A5	99083752	99170757		Pan, J. H.  et al. 2007	17450472				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Acta Oncol    2007    46(3)    361-6	CYP450 polymorphisms predict clinic outcomes to vinorelbine-based chemotherapy in patients with non-small-cell lung cancer		605325		CDC	2007			vinorelbine									
146579	Y	tacrolimus pharmacokinetics	PHARMACOGENOMIC	PHARM		7	7q21.1	CYP3A5	99083752	99170757		Li, D.  et al. 2007	17568575				cytochrome P450, family 3, subfamily A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000777.2			CDC GDP info	1574	Hs.150276			Clin Chim Acta    2007	Polymorphisms of tumor necrosis factor-alpha, interleukin-10, cytochrome P450 3A5 and ABCB1 in Chinese liver transplant patients treated with immunosuppressant tacrolimus		605325		CDC	2007	The IL-10 G-1082A and CYP3A5()3 polymorphisms may influence the interindividual variability of tacrolimus pharmacokinetics in Chinese liver transplant patients. This finding provided a new interpretation for the variable immunosuprressant disposition after transplantation.											
146609	N	schizophrenia	PSYCH	PSY		12	12q24	DAO	107776836	107801676		Vilella, E.  et al. 2007	17408693				D-amino-acid oxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001917.3			CDC GDP info	1610	Hs.113227			J Psychiatr Res    2007	Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction		124050		CDC	2007	these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes.											
146614	Y	bipolar disorder mood disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Williams, N. M.  et al. 2006	16585465	DAOA/G30			D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382	mood disorder across the traditional bipolar and schizophrenia categories		Arch Gen Psychiatry    2006    63(4)    366-73	Variation at the DAOA/G30 Locus Influences Susceptibility to Major Mood Episodes but Not Psychosis in Schizophrenia and Bipolar Disorder		607408		CDC	2006	Despite being originally described as a schizophrenia susceptibility locus, our data suggest that variation at the DAOA/G30 locus does not primarily increase susceptibility for prototypical schizophrenia or psychosis. Instead, our results imply that variation at the DAOA/G30 locus influences susceptibility to episodes of mood disorder across the traditional bipolar and schizophrenia categories.											
146622	N	cognitive function schizotypy	PSYCH	PSY	Schizotypal Personality Disorder|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Stefanis, N. C.  et al. 2007	17336946				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Biol Psychiatry    2007	Impact of Schizophrenia Candidate Genes on Schizotypy and Cognitive Endophenotypes at the Population Level		607408		CDC	2007	The DTNP1 and, less so, NRG1 and DAAO variants might exert gene-specific modulating effects on schizophrenia endophenotypes at the population level.											
146646	Y	migraine with aura	NEUROLOGICAL	NEUR	Migraine with Aura|Genetic Predisposition to Disease	9	9q34	DBH	135491305	135514287		Fernandez, F.  et al. 2006	17095019				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2	Caucasian		CDC GDP info	1621	Hs.591890			J Neurol Sci    2006	Association between a 19 bp deletion polymorphism at the dopamine beta-hydroxylase (DBH) locus and migraine with aura		223360		CDC	2006												
146651		delusional disorder hallucinations	PSYCH	PSY	Schizophrenia	9	9q34	DBH	135491305	135514287		Park, J. K.  et al. 2007	17503472				Dopamine beta-hydroxylase (dopamine beta-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000787.2			CDC GDP info	1621	Hs.591890			Am J Med Genet B Neuropsychiatr Genet    2007	Dopamine beta-hydroxylase gene polymorphisms and psychotic symptoms in schizophrenia		223360		CDC	2007												
146654		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	2	2q12-q21	DBI	119840973	119846592		Fisher, E.  et al. 2007	17262885				Diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ278412	Caucasian;European		CDC GDP info	1622	Hs.78888			Mol Nutr Food Res    2007	Association of acyl-CoA-binding protein (ACBP) single nucleotide polymorphisms and type 2 diabetes in two German study populations		125950		CDC	2007	we obtained evidence from two Caucasian study populations that the minor allele of ACBP rs2084202 might be associated with reduced risk of T2D.											
146657		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	19	19q13.3	DBP	53825756	53832400			16637263				D site of albumin promoter (albumin D-box) binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001352.2	Russian	Bashkiria	CDC GDP info	1628	Hs.414480			Mol Biol (Mosk)    2006    40(2)    231-8	Genotypes of vitamin-D-binding protein (DBP) in patients with chronic obstructive pulmonary disease and healthy population of Republic Bashkortostan		124097		CDC	2006												
146666	Y	vasopressor infusion requirement	CARDIOVASCULAR	CARD	Genetic Predisposition to Disease|Inflammation|Postoperative Complications	6	6p21.3	DDAH2	31802795	31806018		Ryan, R.  et al. 2006	16928504				Dimethylarginine dimethylaminohydrolase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM460795			CDC GDP info	23564	Hs.247362			Ann Thorac Surg    2006    82(3)    895-901	Gene polymorphism and requirement for vasopressor infusion after cardiac surgery		604744		CDC	2006	Vasopressor requirement after surgery may be related to an interaction of genotype, preoperative morbidity, and prolonged surgery.											
146671	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	DDR1	30959839	30975912		Roig, B.  et al. 2007	17440435				Discoidin domain receptor family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013993.2			CDC GDP info	780	Hs.593011			Mol Psychiatry    2007	The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia		600408		CDC	2007	we propose the DDR1 as a new susceptibility gene for schizophrenia.											
146675	Y	HIV	INFECTION	INF	Pregnancy Complications, Infectious|HIV Infections	8	8p23.2-p23.1	DEFB1	6715508	6722939		Segat, L.  et al. 2006	16572527	-44 CC			Defensin, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005218.3	Italian		CDC GDP info	1672	Hs.32949			J Matern Fetal Neonatal Med    2006    19(1)    13-6	DEFB-1 genetic polymorphism screening in HIV-1 positive pregnant women and their children		602056		CDC	2006	Our results evidence a high frequency of the -44 CC allele in HIV-1 infected mothers and their children with augmented potential risk of maternal fetal transmission. This potential vertical transmission risk has been successfully prevented by antiretroviral drug treatment and cesarian section of the HIV-1 positive mothers.											
146692	Y	neural tube defects	DEVELOPMENTAL	DEV	Spinal Dysraphism	5	5q11.2-q13.2	DHFR	79957800	79986556		Parle-McDermott, A.  et al. 2007	17486595			Intron	Dihydrofolate reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000791.3	Irish		CDC GDP info	1719	Hs.83765			Am J Med Genet A    2007	The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population		126060		CDC	2007	the DHFR intron 19-bp deletion allele may be a protective NTD genetic factor by increasing DHFR mRNA levels in pregnant women.											
146694		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	14	14q24.2-q24.3	DIO2	79733621	79748276		Brouwer, J. P.  et al. 2006	16728541				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			Eur J Endocrinol    2006    154(6)    819-25	Thyrotropin, but not a polymorphism in type II deiodinase, predicts response to paroxetine in major depression		601413		CDC	2006	Higher serum TSH was associated with response to paroxetine in patients with major depression.		paroxetine									
146698	N	diabetes, type 2 glucose tolerance insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance	14	14q24.2-q24.3	DIO2	79733621	79748276		Maia, A. L.  et al. 2007	17381351				Deiodinase, iodothyronine, type II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013989.2			CDC GDP info	1734	Hs.202354			Thyroid    2007    17(3)    199-202	The Type 2 Deiodinase (DIO2) A/G Polymorphism Is Not Associated with Glycemic Traits		601413		CDC	2007	Our results indicate that in this community-based sample, there is no association of the DIO2 A/G polymorphism with diabetes intermediate trait levels or DM2 risk.											
146704		schizophrenia sustained attention	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Liu, Y. L.  et al. 2006	16997000				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDP info	27185	Hs.13318			Biol Psychiatry    2006    60(6)    554-62	A Single Nucleotide Polymorphism Fine Mapping Study of Chromosome 1q42.1 Reveals the Vulnerability Genes for Schizophrenia, GNPAT and DISC1		605210		CDC	2006	Chromosome 1q42.											
146708	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q42.1	DISC1	229829183	230243641		Qu, M.  et al. 2007	17286247				Disrupted in schizophrenia 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001012959			CDC GDP info	27185	Hs.13318			Am J Med Genet B Neuropsychiatr Genet    2007	Positive association of the Disrupted-in-Schizophrenia-1 gene (DISC1) with schizophrenia in the Chinese han population		605210		CDC	2007												
146715		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q23	DLG5	79220554	79356354		Gazouli, M.  et al. 2005	16437728				Discs, large homolog 5 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004747.3	Greek		CDC GDP info	9231	Hs.500245			World J Gastroenterol    2005    11(47)    7525-30	Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease		604090		CDC	2005	Collectively, our results suggest that the 1672T variant of the OCTN1 gene and the -207C variant of the OCTN2 gene represent risk factors for CD in the Greek population.											
146735		myotonic dystrophy	OTHER	OTH	Myotonic Dystrophy	19	19q13.3	DMPK	50964815	50977655 		Arsenault, M. E.  et al. 2006	16636244				dystrophia myotonica-protein kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004409.3			CDC GDP info	1760	Hs.631596			Neurology    2006    66(8)    1248-50	Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions		605377		CDC	2006												
146740		DNase I activity	NORMALVARIATION	NV		16	16p13.3	DNASE1	3642940	3648097		Fujihara, J.  et al. 2007	17320453				Deoxyribonuclease I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005223.3			CDC GDP info	1773	Hs.629638			Leg Med (Tokyo)    2007	Two deoxyribonuclease I gene polymorphisms and correlation between genotype and its activity in Japanese population		125505		CDC	2007												
146753		5-fluorouracil toxicity	PHARMACOGENOMIC	PHARM		1	1p22	DPYD	97315887	98159203		Morel, A.  et al. 2006	17121937				SEC63-like (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000110.2			CDC GDP info	1806	Hs.335034			Mol Cancer Ther    2006    5(11)    2895-904	Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance		274270		CDC	2006	Pretreatment detection of three DPYD SNPs could help to avoid severe toxic side effects.											
146762		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	5	5q35.1	DRD1	174800280	174803769			16424823				Dopamine receptor D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000794.3	Indian		CDC GDP info	1812	Hs.2624			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		126449		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
146776		tardive dyskinesia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091			16424823				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Indian		CDC GDP info	1813	Hs.73893			Pharmacogenet Genomics    2006    16(2)    111-117	Genetic susceptibility to tardive dyskinesia among schizophrenia subjects		126450		CDC	2006	Our study presents a detailed analysis of the possible role of dopaminergic genes in the genesis of TD.											
146789	N	nicotine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Opioid-Related Disorders|Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Gelernter, J.  et al. 2006	17085484				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	European		CDC GDP info	1813	Hs.73893			Hum Mol Genet    2006	Haplotype Spanning TTC12 and ANKK1, Flanked By the DRD2 and NCAM1 Loci, is Strongly Associated to Nicotine Dependence in Two Distinct American Populations		126450		CDC	2006	a risk locus for ND, important both in AAs and EAs, maps to a region that spans TTC12 and ANKK1.											
146793		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11q23	DRD2	112785526	112851091		Campa, D.  et al. 2006	17175058				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian;Norwegian		CDC GDP info	1813	Hs.73893			Lung Cancer    2006	Polymorphisms of dopamine receptor/transporter genes and risk of non-small cell lung cancer		126450		CDC	2006	The dopamine receptor/transport gene polymorphisms are associated with the risk of NSCLC among smokers. The data show that the polymorphisms resulting in lower dopamine bioavailability were associated with increased risk of NSCLC.											
146799		smoking behavior	CHEMDEPENDENCY	CHEM	Substance Withdrawal Syndrome|Tobacco Use Disorder	11	11q23	DRD2	112785526	112851091		Vandenbergh, D. J.  et al. 2007	17407504				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2			CDC GDP info	1813	Hs.73893			Addict Biol    2007    12(1)    106-16	Dopamine receptor genes (DRD2, DRD3 and DRD4) and gene-gene interactions associated with smoking-related behaviors		126450		CDC	2007												
146803		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	11	11q23	DRD2	112785526	112851091		Dick, F.  et al. 2007	17449559				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	European		CDC GDP info	1813	Hs.73893			Occup Environ Med    2007	Gene-environment interactions in parkinsonism and Parkinson's disease		126450		CDC	2007	Many small studies have reported associations between genetic polymorphisms and PD.		copper iron manganese pesticides solvents									
146809	Y	heroin abuse	CHEMDEPENDENCY	CHEM		11	11q23	DRD2	112785526	112851091		Perez de Los Cobos, J.  et al. 2007	17543096				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Spanish;European		CDC GDP info	1813	Hs.73893			Behav Brain Funct    2007    3(1)    25	Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects		126450		CDC	2007	Our results indicate that, in Spanish individuals, genotypes of the DRD2 TaqI A polymorphism contribute to variations in the risk of heroin dependence, while single alleles contribute only in males.											
146819		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	3	3q13.3	DRD3	115330246	115380589		Juyal, R. C.  et al. 2006	16816977				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3	Indian		CDC GDP info	1814	Hs.121478			Neurogenetics    2006	Genetic susceptibility to Parkinson's disease among South and North Indians		126451		CDC	2006												
146826	N	schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Cordeiro, Q.  et al. 2006	17119697				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Sao Paulo Med J    2006    124(3)    165-167	Investigation of possible association between Ser9Gly polymorphism of the D3 dopaminergic receptor gene and response to typical antipsychotics in patients with schizophrenia		126451		CDC	2006			antipsychotic drug									
146831		schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	3	3q13.3	DRD3	115330246	115380589		Xuan, J.  et al. 2007	17429404				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDP info	1814	Hs.121478			Neuropsychopharmacology    2007	Effects of the Dopamine D(3) Receptor (DRD3) Gene Polymorphisms on Risperidone Response		126451		CDC	2007			risperidone									
146843	Y	heroin abuse	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		Shao, C.  et al. 2006	16642357				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Psychopharmacology (Berl)    2006	Dopamine D4 receptor polymorphism modulates cue-elicited heroin craving in Chinese		126452		CDC	2006	The results of our study suggest that DRD4 VNTR polymorphism contributes to cue-elicited craving in heroin dependence, indicating DRD4 VNTR represents one of potential genetic risk factors for cue-induced craving.											
146847		body mass	METABOLIC	MET	Obesity|Genetic Predisposition to Disease|Weight Gain|Seasonal Affective Disorder	11	11p15.5	DRD4	627304	630703		Levitan, R. D.  et al. 2006	16760922				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Neuropsychopharmacology    2006	A Birth-Season/DRD4 Gene Interaction Predicts Weight Gain and Obesity in Women with Seasonal Affective Disorder		126452		CDC	2006			season of birth									
146850	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	11	11p15.5	DRD4	627304	630703		Kieling, C.  et al. 2006	16781678				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Biol Psychiatry    2006	Association between DRD4 Gene and Performance of Children with ADHD in a Test of Sustained Attention		126452		CDC	2006	These findings bring further evidence on the role of DRD4 polymorphisms on the performance in sustained attention tasks among children and adolescents with ADHD diagnosis.											
146853		alcohol abuse smoking behavior	CHEMDEPENDENCY	CHEM	Alcoholism|Genetic Predisposition to Disease	11	11p15.5	DRD4	627304	630703		Skowronek, M. H.  et al. 2006	16819620			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Neurogenetics    2006	Interaction between the dopamine D4 receptor and the serotonin transporter promoter polymorphisms in alcohol and tobacco use among 15-year-olds		126452		CDC	2006												
146863	Y	obsessive compulsive disorder	PSYCH	PSY	Obsessive-Compulsive Disorder	11	11p15.5	DRD4	627304	630703		Camarena, B.  et al. 2007	16996722			other	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Mexican		CDC GDP info	1815	Hs.99922			Eur Neuropsychopharmacol    2007	Association study between the dopamine receptor D(4) gene and obsessive-compulsive disorder		126452		CDC	2006	the current study cannot exclude an association between DRD4 gene and OCD in the largest sample analyzed.	Case-Control and Family based										
146870		schizophrenia	PSYCH	PSY	Schizophrenia	11	11p15.5	DRD4	627304	630703		Nakajima, M.  et al. 2006	17089069			promoter	Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			J Hum Genet    2006	Association and synergistic interaction between promoter variants of the DRD4 gene in Japanese schizophrenics		126452		CDC	2006												
146874		dopaminergic activity	NEUROLOGICAL	NEUR		11	11p15.5	DRD4	627304	630703		Muller, J.  et al. 2007	17156756				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Brain Res    2007    1131(1)    155-62	Dopamine and cognitive control		126452		CDC	2007												
146879		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	11	11p15.5	DRD4	627304	630703		Campa, D.  et al. 2006	17175058				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	Caucasian;Norwegian		CDC GDP info	1815	Hs.99922			Lung Cancer    2006	Polymorphisms of dopamine receptor/transporter genes and risk of non-small cell lung cancer		126452		CDC	2006	The dopamine receptor/transport gene polymorphisms are associated with the risk of NSCLC among smokers. The data show that the polymorphisms resulting in lower dopamine bioavailability were associated with increased risk of NSCLC.											
146882	Y	impulsivity	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Eisenberg, D. T.  et al. 2007	17214892				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Behav Brain Funct    2007    3(1)    2	Examining impulsivity as an endophenotype using a behavioral approach		126452		CDC	2007	These findings suggest a meaningful interaction between the DRD2 TaqI A and DRD4 VNTR polymorphisms in the expression of impulsivity and provide initial support for the utility of using behavioral measures for clarifying genetic influences on impulsivity.											
146887		smoking behavior	PHARMACOGENOMIC	PHARM		11	11p15.5	DRD4	627304	630703		David, S. P.  et al. 2007	17387332				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2	European		CDC GDP info	1815	Hs.99922			Pharmacogenomics J    2007	Genetic variation in the dopamine D4 receptor (DRD4) gene and smoking cessation		126452		CDC	2007			nicotine replacement therapy									
146900		attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Brookes, K. J.  et al. 2007	17525975				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth		126452		CDC	2007			season									
146905		attention deficit hyperactivity disorder	PSYCH	PSY		11	11p15.5	DRD4	627304	630703		Lasky-Su, J.  et al. 2007	17579349				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Am J Med Genet B Neuropsychiatr Genet    2007	Family-based association analysis of a statistically derived quantitative traits for ADHD reveal an association in DRD4 with inattentive symptoms in ADHD individuals		126452		CDC	2007												
146909	Y	smoking cues	CHEMDEPENDENCY	CHEM		11	11p15.5	DRD4	627304	630703		McClernon, F. J.  et al. 2007	17611740				Dopamine receptor D4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000797.2			CDC GDP info	1815	Hs.99922			Psychopharmacology (Berl)    2007	DRD4 VNTR polymorphism is associated with transient fMRI-BOLD responses to smoking cues		126452		CDC	2007	These brain imaging results suggest that DRD4 VNTR polymorphism is related to transient brain responses to smoking cues in regions subserving executive and somatosensory processes.											
146918		dementia	PSYCH	PSY	Dementia|Genetic Predisposition to Disease	X	Xq22	DRP2	100361640	100402573		van Oijen, M.  et al. 2006	16854501				Dystrophin related protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001939.1			CDC GDP info	1821	Hs.159291			Neurobiol Aging    2006	Polymorphisms and haplotypes in the C-reactive protein gene and risk of dementia		300052		CDC	2006	These findings suggest that C-reactive protein plays a role in development of dementia.											
146926		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Holliday, E. G.  et al. 2006	16899160				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Australian;CaucIndian		CDC GDP info	84062	Hs.571148			Twin Res Hum Genet    2006    9(4)    531-9	Association study of the dystrobrevin-binding gene with schizophrenia in Australian and Indian samples		607145		CDC	2006												
146930		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Wood, L. S.  et al. 2006	17055463				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			Biol Psychiatry    2006	Significant Support for DAO as a Schizophrenia Susceptibility Locus		607145		CDC	2006	Our results significantly support DAO as a susceptibility locus for schizophrenia and offer some support for the implication of both RGS4 and DISC1 in the etiology of schizophrenia.											
146934	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Turunen, J. A.  et al. 2007	17300918				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	Finnish	Finland	CDC GDP info	84062	Hs.571148			Schizophr Res    2007	The role of DTNBP1, NRG1, and AKT1 in the genetics of schizophrenia in Finland		607145		CDC	2007												
146937	Y	schizophrenia	PSYCH	PSY		6	6p22.3	DTNBP1	15631017	15771250		Vilella, E.  et al. 2007	17408693				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3			CDC GDP info	84062	Hs.571148			J Psychiatr Res    2007	Association of schizophrenia with DTNBP1 but not with DAO, DAOA, NRG1 and RGS4 nor their genetic interaction		607145		CDC	2007	these results may provide further support for an association between the dysbindin gene (DTNBP1) and schizophrenia, but not between the disease and DAO, DAOA, NRG1 and RGS4 or with the interaction of these genes.											
146941	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p22.3	DTNBP1	15631017	15771250		Duan, J.  et al. 2007	17476109				Dystrobrevin binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032122.3	African American;European		CDC GDP info	84062	Hs.571148			Hum Hered    2007    64(2)    97-106	DTNBP1 (Dystrobrevin Binding Protein 1) and Schizophrenia		607145		CDC	2007	Our results provide evidence for an association of SZ with SNPs at the 3\ end of DTNBP1 in the samples studied.											
146947	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	14	14q32.3-qter|14q32	DYNC1H1	101500733	101586888			16546759				Dynein, cytoplasmic 1, heavy chain 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001376	Japanese;European		CDC GDP info	1778	Hs.649497			Amyotroph Lateral Scler Other Motor Neuron Disord    2006    7(1)    46-56	No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population		600112		CDC	2006												
146952	N	polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Kidney Failure, Chronic|Disease Progression	1	1p36.1	ECE1	21418938	21544493			16526315				Endothelin converting enzyme 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001397.1			CDC GDP info	1889	Hs.195080			Ren Fail    2006    28(1)    21-4	The influence of the endothelin-converting enzyme-1 gene polymorphism on the progression of autosomal dominant polycystic kidney disease		600423		CDC	2006	We excluded the effect of ECE-1b C-338A polymorphism on the progression of ADPKD. We could observe a mild tendency toward faster decline of renal function in AA homozygous individuals.											
146957		endothelin-1	CARDIOVASCULAR	CARD	Anoxia|Altitude Sickness	6	6p24.1	EDN1	12398644	12404763		Rajput, C.  et al. 2006	16466695				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Biochem Biophys Res Commun    2006    341(4)    1218-1224	Endothelin-1 gene variants and levels associate with adaptation to hypobaric hypoxia in high-altitude natives		131240		CDC	2006												
146961		sickle cell anemia	HEMATOLOGICAL	HEM		6	6p24.1	EDN1	12398644	12404763		Chaar, V.  et al. 2006	16891187				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Haematologica    2006	ET-1 and ecNOS gene polymorphisms and susceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia		131240		CDC	2006												
146969		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Disease Progression	6	6p24.1	EDN1	12398644	12404763		Maixnerova, D.  et al. 2007	17328840				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			Folia Biol (Praha)    2007    53(1)    27-32	The influence of three endothelin-1 polymorphisms on the progression of IgA nephropathy		131240		CDC	2007												
146975		atherosclerosis, generalized	CARDIOVASCULAR	CARD	Atherosclerosis|Hypertension|Disease Progression	6	6p24.1	EDN1	12398644	12404763		Yasuda, H.  et al. 2007	17525706				Endothelin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001955.2			CDC GDP info	1906	Hs.511899			J Hum Hypertens    2007	Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension		131240		CDC	2007												
146980	Y	heart failure	CARDIOVASCULAR	CARD	Heart Failure	4	4q31.22-q31.23	EDNRA	148621579	148685555		Colombo, M. G.  et al. 2006	16582543	H323H			Endothelin receptor type A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001957.1			CDC GDP info	1909	Hs.183713			Cardiology    2006    105(4)    246-252	ET-1 Lys198Asn and ET(A) Receptor H323H Polymorphisms in Heart Failure. A Case-Control Study		131243		CDC	2006	The ET-1 Lys198Asn and ET(A) receptor H323H polymorphisms seem to act synergistically to increase the risk of HF.											
146991		Hirschsprung's disease	OTHER	OTH	Hirschsprung Disease	13	13q22	EDNRB	77367616	77447665		Sangkhathat, S.  et al. 2006	17009072				Endothelin receptor type B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000115.1	Asian		CDC GDP info	1910	Hs.82002			J Hum Genet    2006	Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients		131244		CDC	2006												
146995		epilepsy, juvenile myoclonic	NEUROLOGICAL	NEUR	Myoclonic Epilepsy, Juvenile	6	6p12.3	EFHC1	52393070	52465177		Ma, S.  et al. 2006	16839746				EF-hand domain (C-terminal) containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018100.1	Caucasian		CDC GDP info	114327	Hs.403171			Epilepsy Res    2006	Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy		608815		CDC	2006												
147025		lung cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	7	7p12	EGFR	55054218	55242525		van Zandwijk, N.  et al. 2007	17060486				Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3			CDC GDP info	1956	Hs.488293			Ann Oncol    2007    18(1)    99-103	EGFR and KRAS mutations as criteria for treatment with tyrosine kinase inhibitors		131550		CDC	2007			erlotinib gefitinib									
147034	Y	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	7	7p12	EGFR	55054218	55242525		Zhang, W.  et al. 2007	17219440			Intron	Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005228.3	Caucasian		CDC GDP info	1956	Hs.488293			Mol Carcinog    2007	Association of the EGFR intron 1 CA repeat length with lung cancer risk		131550		CDC	2007												
147076	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	ELN	73080362	73122172		Akagawa, H.  et al. 2007	17287949				Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX537939			CDC GDP info	2006	Hs.252418			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		130160		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
147078		age-related maculopathy	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	6	6q14	ELOVL4	80681247	80713941		Conley, Y. P.  et al. 2006	17000705				Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022726.2			CDC GDP info	6785	Hs.101915			Hum Mol Genet    2006	CFH, ELOVL4, PLEKHA1, and LOC387715 genes and susceptibility to Age-Related Maculopathy		605512		CDC	2006												
147089		diabetes, type 2 obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	6	6q22-q23	ENPP1	132170852	132254043			16527214				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1			CDC GDP info	5167	Hs.527295			Med Sci (Paris)    2006    22(3)    308-312	ENPP1, the first example of common genetic link between childhood and adult obesity and type 2 diabetes.		173335		CDC	2006												
147106		diabetes, type 2	METABOLIC	MET	Insulin Resistance	6	6q22-q23	ENPP1	132170852	132254043		Chandalia, M.  et al. 2007	17493546				Ectonucleotide pyrophosphatase/phosphodiesterase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006208.1	Hispanic Caucasian;non-Hispanic;Asian		CDC GDP info	5167	Hs.527295			J Diabetes Complications    2007    21(3)    143-148	Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort		173335		CDC	2007			body mass									
147116		DNA damage	OTHER	OTH	DNA Damage	1	1q42.1	EPHX1	224064453	224099884		Ketelslegers, H. B.  et al. 2006	16614101				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	Caucasian		CDC GDP info	2052	Hs.89649			Cancer Epidemiol Biomarkers Prev    2006    15(4)    624-9	Interindividual variations in DNA adduct levels assessed by analysis of multiple genetic polymorphisms in smokers		132810		CDC	2006			smoking (tobacco)									
147121		encephalopathy, solvent-induced	NEUROLOGICAL	NEUR	Neurotoxicity Syndromes|Occupational Diseases|Genetic Predisposition to Disease	1	1q42.1	EPHX1	224064453	224099884		Kezic, S.  et al. 2006	17022435				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Toxicol Ind Health    2006    22(7)    281-9	Genetic polymorphism of metabolic enzymes modifies the risk of chronic solvent-induced encephalopathy		132810		CDC	2006												
147141		birth weight	METABOLIC	MET	Genetic Predisposition to Disease|Birth Weight	1	1q42.1	EPHX1	224064453	224099884		Wu, T.  et al. 2007	17526865				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2			CDC GDP info	2052	Hs.89649			Am J Epidemiol    2007	Passive Smoking, Metabolic Gene Polymorphisms, and Infant Birth Weight in a Prospective Cohort Study of Chinese Women		132810		CDC	2007			smoking (tobacco), maternal									
147146		breast cancer	CANCER	CAN		1	1q42.1	EPHX1	224064453	224099884		Justenhoven, C.  et al. 2007	17588204				Epoxide hydrolase 1, microsomal (xenobiotic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000120.2	German		CDC GDP info	2052	Hs.89649			Breast Cancer Res Treat    2007	Breast cancer		132810		CDC	2007			body mass									
147185	N	DNA repair capacity	CANCER	CAN	Breast Neoplasms	19	19q13.2-q13.3	ERCC1	50604711	50673926		Shen, J.  et al. 2006	16985021				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1			CDC GDP info	2067	Hs.435981			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1614-9	Polymorphisms in nucleotide excision repair genes and DNA repair capacity phenotype in sisters discordant for breast cancer		126380		CDC	2006	there were no statistically significant differences in average DRC for most of the genotypes.		smoking (tobacco)									
147189		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	ERCC1	50604711	50673926		Povey, J. E.  et al. 2007	17210993				Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_202001.1	Scottish		CDC GDP info	2067	Hs.435981			Carcinogenesis    2007	DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma		126380		CDC	2007												
147212		lymphoma lymphoma, non-Hodgkin	CANCER	CAN		19	19q13.3	ERCC2	50546685	50566016		Shen, M.  et al. 2006	16639601				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Hum Genet    2006	Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut		126340		CDC	2006												
147227		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Costa, S.  et al. 2006	17063276				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Breast Cancer Res Treat    2006	DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility		126340		CDC	2006			family history									
147230		DNA adducts	OTHER	OTH		19	19q13.3	ERCC2	50546685	50566016		Jiao, L.  et al. 2006	17158087				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2			CDC GDP info	2068	Hs.487294			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		126340		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
147234		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	19	19q13.3	ERCC2	50546685	50566016		Povey, J. E.  et al. 2007	17210993				Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000400.2	Scottish		CDC GDP info	2068	Hs.487294			Carcinogenesis    2007	DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma		126340		CDC	2007												
147264		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16p13.3-p13.11	ERCC4	13921523	13949705		Kiyohara, C.  et al. 2007	17299578				Excision repair cross-complementing rodent repair deficiency, complementation group 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005236.1			CDC GDP info	2072	Hs.567265			Int J Med Sci    2007    4(2)    59-71	Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk		133520		CDC	2007												
147286	N	leukemia	CANCER	CAN	Leukemia|Breast Neoplasms|Hematologic Neoplasms|Neoplasms, Second Primary	13	13q22	ERCC5	102249399	102326346		Guillem, V. M.  et al. 2007	17476281				Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000123.2			CDC GDP info	2073	Hs.258429			Leukemia    2007	Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies		133530		CDC	2007												
147291		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	10	10q11	ERCC6	50336714	50417590			16537713				excision repair cross-complementing rodent repair deficiency, complementation group 6			Spain	CDC GDP info	2074	HS.99924			Cancer Epidemiol Biomarkers Prev    2006    15(3)    536-42	Genetic variation in the nucleotide excision repair pathway and bladder cancer risk		133540		CDC	2006	these findings provide support for the influence of genetic variation in NER on bladder cancer risk.											
147296	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	1	1q22	ERVK7				Ramos-Lopez, E.  et al. 2006	16866884			Intron	endogenous retroviral sequence K, 7 (type 2)		German		CDC GDP info	449619				Tissue Antigens    2006    68(2)    147-52	Neither an intronic CA repeat within the CD48 gene nor the HERV-K18 polymorphisms are associated with type 1 diabetes				CDC	2006	we cannot confirm a role of HERV-K18 polymorphisms -HERV-8914 and HERV-8594- or of the CD48 CA repeat for type 1 diabetes susceptibility.											
147306		endometriosis	REPRODUCTION	REP	Endometriosis|Recurrence	6	6q25.1	ESR1	152053407	152466099		Luisi, S.  et al. 2006	16500359				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Fertil Steril    2006    85(3)    764-6	Estrogen receptor gene polymorphisms are associated with recurrence of endometriosis		133430		CDC	2006	women affected by endometriosis with the ERalpha polymorphic allele, even if heterozygous, have a worse prognosis, and these results suggest that the ERalpha gene polymorphisms may be included among the genetic risk factors for endometriosis.											
147311	Y	osteoporosis, postmenopausal	PHARMACOGENOMIC	PHARM		6	6q25.1	ESR1	152053407	152466099		Zhang, Z.  et al. 2006	16604479				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    129-33	Association of bone metabolism related genes polymorphisms with the effect of raloxifene hydrochloride on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis.		133430		CDC	2006	The effect of RLX on BMD in postmenopausal women with osteoporosis is regulated by the polymorphisms of Fok I of VDR gene and Pvu II of ESR1 gene.		raloxifene hydrochloride									
147317	N	bone density	METABOLIC	MET		6	6q25.1	ESR1	152053407	152466099		Dong, J.  et al. 2006	16758971				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Wei Sheng Yan Jiu    2006    35(2)    196-200	Association of bone mineral density with gene polymorphisms and environmental factors in Chinese postmenopausal women		133430		CDC	2006	BMD was not associated with ER genotype but with VDR Bsm I polymorphism.											
147323		hepatitis B, chronic liver disease, chronic and cirrhosis	INFECTION	INF	Hepatitis B, Chronic|Liver Cirrhosis	6	6q25.1	ESR1	152053407	152466099		Xie, J. P.  et al. 2006	16859128				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			Zhong Nan Da Xue Xue Bao Yi Xue Ban    2006    31(3)    379-82	Estrogen receptor gene polymorphisms and HBV-induced liver cirrhosis		133430		CDC	2006	Pp genotype and P allele might be the susceptibility gene for HBV-induced cirrhosis while pp genotype and p allele might be the protective gene.											
147334	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	6	6q25.1	ESR1	152053407	152466099		Berndt, S. I.  et al. 2007	17220347				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2	non-Hispanic		CDC GDP info	2099	Hs.208124			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		133430		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
147341		breast cancer	CANCER	CAN		6	6q25.1	ESR1	152053407	152466099		Hu, Z.  et al. 2007	17562079				Estrogen receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000125.2			CDC GDP info	2099	Hs.208124			J Cancer Res Clin Oncol    2007	A multigenic study on breast cancer risk associated with genetic polymorphisms of ER Alpha, COMT and CYP19 gene in BRCA1/BRCA2 negative Shanghai women with early onset breast cancer or affected relatives		133430		CDC	2007			menopause									
147354	Y	bone density	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Lau, H. H.  et al. 2006	16622736				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		601663		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
147357	N	bone density cholesterol	METABOLIC	MET	Osteoporosis, Postmenopausal|Fractures, Bone	14	14q	ESR2	63763503	63875021		Silvestri, S.  et al. 2006	16735942				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2		Denmark	CDC GDP info	2100	Hs.443150			Menopause    2006	Estrogen receptor alpha and beta polymorphisms		601663		CDC	2006	In a large white population of postmenopausal women, ERalpha gene polymorphisms were not associated with bone mineral density or lipid profile at baseline or after hormone therapy.		hormone replacement therapy									
147366		cholesterol, HDL lipoprotein	METABOLIC	MET		14	14q	ESR2	63763503	63875021		Sowers, M. R.  et al. 2006	16949390				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2	Japanese;Chinese;African American;Caucasian		CDC GDP info	2100	Hs.443150			Am J Med    2006    119(9 Suppl 1)    S61-8	Sex steroid hormone polymorphisms, high-density lipoprotein cholesterol, and apolipoprotein A-1 from the Study of Women's Health Across the Nation (SWAN)		601663		CDC	2006												
147376	N	diabetes, type 2 obesity	METABOLIC	MET	Diabetes Mellitus, Type 2|Obesity|Genetic Predisposition to Disease	11	11q13	ESRRA	63829619	63840786		Larsen, L. H.  et al. 2006	16755280				Estrogen-related receptor alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004451.3	Danish		CDC GDP info	2101	Hs.110849			Int J Obes (Lond)    2006	Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes		601998		CDC	2006	The ESRRA23 and Pro116Pro variants of the gene encoding ERRalpha are not associated with obesity, type 2 diabetes or related quantitative traits in the examined Danish whites.											
147381		myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Thrombosis	5	5q33-qter	F12	176761746	176764079		Roldan, V.  et al. 2005	15749685				Coagulation factor XII (Hageman factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000505.2			CDC GDP info	2161	Hs.1321			Haematologica    2005    90(3)    421-3	Five prothrombotic polymorphisms and the prevalence of premature myocardial infarction		234000		CDC	2005												
147389		thromboembolism, venous	CARDIOVASCULAR	CARD	Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Wells, P. S.  et al. 2006	16740590				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Am J Epidemiol    2006	Factor XIII Val34Leu Variant Is Protective against Venous Thromboembolism		134570		CDC	2006												
147401	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	6	6p25.3-p24.3	F13A1	6089309	6265923		Biron-Andreani, C.  et al. 2006	17107352				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Br J Haematol    2006    135(5)    697-702	ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk		134570		CDC	2006	except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.											
147412	N	thromboembolism, venous	CARDIOVASCULAR	CARD		6	6p25.3-p24.3	F13A1	6089309	6265923		Rasmussen-Torvik, L. J.  et al. 2007	17433418				Coagulation factor XIII, A1 polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000129.2			CDC GDP info	2162	Hs.335513			Thromb Res    2007	The association of alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism in the LITE study		134570		CDC	2007	These results suggest that alpha-fibrinogen Thr312Ala is involved in the pathogenesis of VTE and that its action may be modified by other VTE risk factors.		body mass									
147423		thrombosis, arterial thrombosis, venous	CARDIOVASCULAR	CARD	Thrombosis|Venous Thrombosis|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Palomo, G. = I et al. 2005	16446869				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2		Chile	CDC GDP info	2147	Hs.410092			Rev Med Chil    2005    133(12)    1425-33	Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis.		176930		CDC	2005	In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population.											
147429		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	11	11p11-q12	F2	46697330	46717631		Coulam, C. B.  et al. 2006	16635210				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Am J Reprod Immunol    2006    55(5)    360-8	Multiple Thrombophilic Gene Mutations Rather than Specific Gene Mutations are Risk Factors for Recurrent Miscarriage		176930		CDC	2006	Inherited thrombophilias are associated with recurrent miscarriage.											
147454		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	11	11p11-q12	F2	46697330	46717631		Xu, L.  et al. 2007	17537304				Coagulation factor II (thrombin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000506.2			CDC GDP info	2147	Hs.410092			Zhonghua Fu Chan Ke Za Zhi    2007    42(3)    180-3	Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion		176930		CDC	2007	The genetic polymorphisms of MTHFR C677T are associated with URESA.											
147462		sepsis	INFECTION	INF	Sepsis	1	1q23	F5	167747815	167822393		Sipahi, T.  et al. 2006	16444434				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		227400		CDC	2006												
147464		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Venous Thrombosis	1	1q23	F5	167747815	167822393		Falkowski, A.  et al. 2005	16466010				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Pol Arch Med Wewn    2005    114(1)    644-51	Pharmacogenetics of the local thrombolysis in patients with deep vein thrombosis		227400		CDC	2005			streptokinase									
147491	N	thromboembolism, venous	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Venous Thrombosis|Genetic Predisposition to Disease	1	1q23	F5	167747815	167822393		Cochery-Nouvellon, E.  et al. 2007	17408404				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			J Thromb Haemost    2007    5(4)    700-7	Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy		227400		CDC	2007	Homozygosity for the C46T polymorphism of the F12 gene is associated with venous thrombosis during the first pregnancy/puerperium in previously asymptomatic women.											
147496	Y	cerebral venous thrombosis	CARDIOVASCULAR	CARD	Intracranial Thrombosis|Thrombophilia	1	1q23	F5	167747815	167822393		Romero, A.  et al. 2007	17537363				Coagulation factor V (proaccelerin, labile factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000130.3			CDC GDP info	2153	Hs.30054			Med Clin (Barc)    2007    128(17)    655-6	Genetic thrombophilia and cerebral venous thrombosis.		227400		CDC	2007	The presence of factor V Leiden and PT 20210A are risk factors for SCVT, but not the mutation of the MTHR.											
147520		anticoagulant response of acenocoumarol	PHARMACOGENOMIC	PHARM		13	13q34	F7	112808105	112822996		Gonzalez-Conejero, R.  et al. 2007	17596133				Coagulation factor VII (serum prothrombin conversion accelerator)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val= NM_000131			CDC GDP info	2155	Hs.36989			J Thromb Haemost    2007	The genetic interaction of VKORC1 c1173t/calumenin a29809g modulates the anticoagulant response of acenocoumarol		227500		CDC	2007	Our results suggest that CALU a29809g might be a new genetic factor involved in the pharmacogenetic of anticoagulant therapy, and confirm that specific genetic profiles defined by different polymorphisms will determine the initial response and required dose to achieve an stable and safe INR.											
147543	N	glucose tolerance insulin obesity	METABOLIC	MET	Insulin Resistance	4	4q28-q31	FABP2	120457852	120462766		Perez-Bravo, F.  et al. 2006	17211557				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2			CDC GDP info	2169	Hs.282265			Acta Diabetol    2006    43(4)    93-8	Lack of association between the fatty acid binding protein 2 (FABP2) polymorphism with obesity and insulin resistance in two aboriginal populations from Chile		134640		CDC	2006												
147547	Y	metabolic syndrome	METABOLIC	MET	Insulin Resistance|Metabolic Syndrome X	4	4q28-q31	FABP2	120457852	120462766		Csep, K.  et al. 2007	17383953				Fatty acid binding protein 2, intestinal	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000134.2	Romania		CDC GDP info	2169	Hs.282265			Orv Hetil    2007    148(13)    597-602	Relationship of FABP2-A54T polymorphism and the metabolic syndrome in the Romanian Maros county.		134640		CDC	2007	These results suggest that the FABP2 T54 allele may have a minor contribution to the metabolic syndrome in our region.											
147552		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	5	5q33.3-q34	FABP6	159546951	159598307		Fisher, E.  et al. 2007	17266179				Fatty acid binding protein 6, ileal (gastrotropin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG192623	European		CDC GDP info	2172	Hs.519719			Mol Nutr Food Res    2007    51(2)    185-191	Candidate gene association study of type 2 diabetes in a nested case-control study of the EPIC-Potsdam cohort - Role of fat assimilation		600422		CDC	2007												
147566		cervical cancer endometrial cancer ovarian cancer	CANCER	CAN	Genital Neoplasms, Female|Uterine Cervical Neoplasms	10	10q24.1	FAS	90740267	90765522		Ueda, M.  et al. 2006	16515587			promoter	Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			Int J Gynecol Cancer    2006    16 Suppl 1    179-82	Fas gene promoter -670 polymorphism in gynecological cancer		134637		CDC	2006												
147571	N	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	10	10q24.1	FAS	90740267	90765522		Ikehara, S. K.  et al. 2006	17006606				Fas (TNF receptor superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000043.3			CDC GDP info	355	Hs.244139			J Hum Genet    2006	A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population		134637		CDC	2006												
147581	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Wohlfahrt, J. C.  et al. 2006	16512757				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		134638		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
147591	Y	azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male|Azoospermia|Oligospermia|Genetic Predisposition to Disease	1	1q23	FASLG	170894807	170902635		Wang, W.  et al. 2007	17491259				Fas ligand (TNF superfamily, member 6)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000639.1			CDC GDP info	356	Hs.2007			Zhonghua Nan Ke Xue    2007    13(4)    302-5	Association of FASL-844 polymorphism with the risk of idiopathic azoospermia and severe oligozoospermia		134638		CDC	2007	FASL-844 polymorphism appears to be a genetic predisposing factor of idiopathic azoospermia or severe oligozoospermia among southern Chinese Han males.											
147599		myocardial infarct	PHARMACOGENOMIC	PHARM	Coronary Disease|Myocardial Infarction|Genetic Predisposition to Disease	19	19q13.2-q13.4	FCAR	60077360	60093650		Iakoubova, O. A.  et al. 2006	17008591				Fc fragment of IgA, receptor for	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002000.2	Scottish		CDC GDP info	2204	Hs.631534			Arterioscler Thromb Vasc Biol    2006	Asp92Asn Polymorphism in the Myeloid IgA Fc Receptor Is Associated With Myocardial Infarction in Two Disparate Populations. CARE and WOSCOPS		147045		CDC	2006	Carriers of 92Asn had increased risk of MI in CARE and increased odds of CHD in WOSCOPS.		pravastatin									
147619	Y	allergic rhinitis asthma	IMMUNE	IMM	Asthma|Rhinitis, Allergic, Perennial	1	1q23	FCGR2A	159741843	159760427		Gulen, F.  et al. 2007	17291475				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642	Turkish		CDC GDP info	2212	Hs.352642			Clin Biochem    2007	The FcgammaRIIa polymorphism in Turkish children with asthma bronchial and allergic rhinitis		146790		CDC	2007	This study shows that Fc gammaRIIa gene 131R allele represents an important genetic risk factor for bronchial asthma and allergic rhinitis susceptibility.											
147626	Y	arthritis lymphopenia nephritis, lupus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	1	1q23	FCGR2A	159741843	159760427		Jonsen, A.  et al. 2007	17596285				Fc fragment of IgG, low affinity IIa, receptor (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021642			CDC GDP info	2212	Hs.352642			Rheumatology (Oxford)    2007	Association between SLE nephritis and polymorphic variants of the CRP and Fc{gamma}RIIIa genes		146790		CDC	2007												
147632	Y	lupus erythematosus periodontitis	IMMUNE	IMM	Periodontitis|Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q23	FCGR2B	159817761	159836656		Kobayashi, T.  et al. 2007	17335370				Fc fragment of IgG, low affinity IIc, receptor for (CD32)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001002273.1			CDC GDP info	2213	Hs.352642			J Periodontol    2007    78(3)    467-474	The Combined Genotypes of Stimulatory and Inhibitory Fcgamma Receptors Associated With Systemic Lupus Erythematosus and Periodontitis in Japanese Adults		604590		CDC	2007	The combination of stimulatory FcgammaRIIA and inhibitory FcgammaRIIB genotypes may increase susceptibility to SLE and periodontitis in the Japanese population.											
147649	N	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	1	1q23	FCGR3A	159778174	159787005		Latiano, A.  et al. 2007	17600378				Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569.6			CDC GDP info	2214	Hs.372679			Inflamm Bowel Dis    2007	Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease		146740		CDC	2007	No significant difference for the PTPN22 and NFkB1 variants was found.											
147655	Y	periodontitis	IMMUNE	IMM	Periodontitis	1	1q23	FCGR3B	159859676	159867525		Nibali, L.  et al. 2006	16899095				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569	Caucasian		CDC GDP info	2215	Hs.372679			J Clin Periodontol    2006    33(8)    529-39	NADPH oxidase (CYBA) and FcgammaR polymorphisms as risk factors for aggressive periodontitis		610665		CDC	2006	C242T p22phox NADPH oxidase and FcgammaR polymorphisms may predispose to AgP through a modulation of neutrophil superoxide production.											
147659	Y	kidney failure, chronic kidney transplant	RENAL	REN		1	1q23	FCGR3B	159859676	159867525		Xu, G.  et al. 2007	17584599				Fc fragment of IgG, low affinity IIIb, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000569			CDC GDP info	2215	Hs.372679			Transpl Immunol    2007    18(1)    28-31	Association of Fc gamma receptor IIIB polymorphism with renal-allogrft in Chinese		610665		CDC	2007	FcgammaRIIIb NA1/NA2 heterozygote genotype frequency was increased in ESRD patients in Chinese. The present findings showed that FcgammaRIIIb genotype related to the disease susceptibility, although FcgammaRIIIb polymorphisms did not affect the acute rejection.											
147696		fibrinogen myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	4	4q28	FGB	155703595	155711688		Mannila, M. N.  et al. 2006	16525568				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Thromb Haemost    2006    95(3)    420-7	Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction		134830		CDC	2006												
147697		erythrocyte aggregation	CARDIOVASCULAR	CARD	Atherosclerosis|Thrombosis	4	4q28	FGB	155703595	155711688		Ben Assayag, E.  et al. 2006	16525569				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Thromb Haemost    2006    95(3)    428-33	Gender differences in the expression of erythrocyte aggregation in relation to B beta-fibrinogen gene polymorphisms in apparently healthy individuals		134830		CDC	2006												
147713	Y	cholesterol cholesterol, LDL fibrinogen lipoprotein myocardial infarct nitrate triglycerides	METABOLIC	MET	Myocardial Infarction	4	4q28	FGB	155703595	155711688		Sampaio, M. F.  et al. 2006	17126309				Fibrinogen beta chain	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005141.2			CDC GDP info	2244	Hs.300774			Clin Chim Acta    2006	AMI is associated with polymorphisms in the NOS3 and FGB but not in PAI-1 genes in young adults		134830		CDC	2006	Our data suggest NOS3 and FGB polymorphisms are associated with AMI.											
147723		psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Genetic Predisposition to Disease|Neovascularization, Pathologic	5	5q31	FGF1	141953305	142057802		Butt, C.  et al. 2007	17204151				Fibroblast growth factor 1 (acidic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000800.2			CDC GDP info	2246	Hs.483635			BMC Musculoskelet Disord    2007    8    1	VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis		131220		CDC	2007	The T allele of VEGF in +936 may act as a protective allele in the development of PsA. Further studies regarding the role of pro-angiogenic markers in PsA are warranted.											
147737	Y	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	5	5q35.1-qter	FGFR4	176446526	176457732		da Costa Andrade, V. C.  et al. 2006	17084840				Fibroblast growth factor receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002011.3			CDC GDP info	2264	Hs.165950			Exp Mol Pathol    2006	The fibroblast growth factor receptor 4 (FGFR4) Arg(388) allele correlates with survival in head and neck squamous cell carcinoma		134935		CDC	2006	The FGFR4 Arg(388) allele is associated with a shortened survival.											
147751		infertility, male	REPRODUCTION	REP	Infertility, Male	6	6q16.1-q16.3	FHL5	97117155	97171233		Christensen, G. L.  et al. 2006	16687568				Four and a half LIM domains 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020482			CDC GDP info	9457	Hs.632608			Mol Hum Reprod    2006    12(4)    257-62	Sequencing and haplotype analysis of the Activator of CREM in the Testis (ACT) gene in populations of fertile and infertile males				CDC	2006												
147758		hypospadias	METABOLIC	MET	Hypospadias|Syndrome	12	12p13.33	FKBP4	2774413	2783385		Beleza-Meireles, A.  et al. 2007	17343741				FK506 binding protein 4, 59kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002014			CDC GDP info	2288	Hs.524183			Reprod Biol Endocrinol    2007    5(1)    8	Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias				CDC	2007	FKBP52 is likely to play a role in growth and development of the male genitalia, since it is expressed in the genital skin of prepubertal boys; however alterations in the sequence and in the expression of the FKBP4 gene are not a common cause of non-syndromic hypospadias.											
147761	Y	dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic|Genetic Predisposition to Disease	1	1q21	FLG	150541274	150564303		Weidinger, S.  et al. 2006	16815158				Hypothetical protein LOC339400	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002016.1	German		CDC GDP info	2312	Hs.23783			J Allergy Clin Immunol    2006    118(1)    214-9	Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations		135940		CDC	2006	Together these data implicate that FLG is the first really strong genetic factor identified in a common complex disease.											
147767		leukemia, lymphoid	CANCER	CAN	Burkitt Lymphoma|Leukemia, B-cell, Acute|Leukemia, Lymphocytic, Acute, L1|Noonan Syndrome|Down Syndrome	13	13q12	FLT3	27475410	27572729			16533526				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDP info	2322	Hs.507590			Leuk Res    2006	PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia		136351		CDC	2006												
147770		leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Promyelocytic, Acute	13	13q12	FLT3	27475410	27572729		Mathews, V.  et al. 2007	17606455				Fms-related tyrosine kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004119.1			CDC GDP info	2322	Hs.507590			Haematologica    2007    92(7)    994-5	Impact of FLT3 mutations and secondary cytogenetic changes on the outcome of patients with newly diagnosed acute promyelocytic leukemia treated with a single agent arsenic trioxide regimen		136351		CDC	2007			arsenic trioxide									
147787	Y	bone density	METABOLIC	MET	Osteoporosis	16	16q22-16q24	FOXC2	85158442	85159948		Yamada, Y.  et al. 2006	16786163				Forkhead box C2 (MFH-1, mesenchyme forkhead 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005251.1			CDC GDP info	2303	Hs.436448			Int J Mol Med    2006    18(1)    119-27	Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals		602402		CDC	2006												
147808	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	9	9q34	FREQ	131974677	132038726			16402081				Frequenin homolog (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014286			CDC GDP info	23413	Hs.694740			Pharmacogenomics J    2006	Interaction between variation in the D2 dopamine receptor (DRD2) and the neuronal calcium sensor-1 (FREQ) genes in predicting response to nicotine replacement therapy for tobacco dependence		603315		CDC	2006			nicotine replacement therapy									
147815	Y	invitro fertilization	REPRODUCTION	REP		2	2p21-p16	FSHR	49043155	49235134		Loutradis, D.  et al. 2006	16710753	Asn/Ser			Follicle stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000145.2			CDC GDP info	2492	Hs.1428			J Assist Reprod Genet    2006	FSH receptor gene polymorphisms have a role for different ovarian response to stimulation in patients entering IVF/ICSI-ET programs		136435		CDC	2006	GR patients carry more often the Asn/Ser genotype. The latter is correlated with more follicles and oocytes in both OD and GR patients. The Ser/Ser variant might be related to higher serum FSH levels, while the Asn/Ser with lower.											
147823		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome|Genetic Predisposition to Disease	5	5q11.2	FST	52812351	52817661		Jones, M. R.  et al. 2007	17284512				Follistatin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006350.2	Caucasian		CDC GDP info	10468	Hs.9914			Mol Hum Reprod    2007	Polymorphism of the follistatin gene in polycystic ovary syndrome		136470		CDC	2007	FST is not a susceptibility locus for PCOS; however, the SNP rs3797297 from FST gene was associated with androgenic markers for PCOS and may be of importance in the hyperandrogenaemia of the disease.											
147837		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	18	18q21.3	FVT1	59148812	59185438		Quintero-Ramos, A.  et al. 2006	16711541				Follicular lymphoma variant translocation 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002035			CDC GDP info	2531	Hs.74050			Gac Med Mex    2006    142(2)    95-8	Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion		136440		CDC	2006												
147847	P	G6PD deficiency	METABOLIC	MET	Favism|Glycogen Storage Disease Type I	X	Xq28	G6PD	153412799	153428981		Noori-Daloii, M. R.  et al. 2007	17499234				Glucose-6-phosphate dehydrogenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000402.3	Iranian;Italian	Iran	CDC GDP info	2539	Hs.461047			Clin Biochem    2007	A comprehensive study on the major mutations in glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in the coastal provinces of Caspian Sea in the north of Iran		305900		CDC	2007	These results which are the first molecular investigation in north of Iran indicate a higher prevalence of G6PD Chatham in this large Iranian population than anywhere else in the world.											
147851		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		6	6p21.31	GABBR1	29631386	29708839		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) B receptor, 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001470.1			CDC GDP info	2550	Hs.167017			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		603540		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147861	Y	alcohol dependence	CHEMDEPENDENCY	CHEM	Alcoholic Intoxication|Alcoholism	5	5q34-q35	GABRA1	161206982	161258992		Dick, D. M.  et al. 2006	16792556				Gamma-aminobutyric acid (GABA) A receptor, alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000806.3			CDC GDP info	2554	Hs.175934			Alcohol Clin Exp Res    2006    30(7)    1101-10	Association Between GABRA1 and Drinking Behaviors in the Collaborative Study on the Genetics of Alcoholism Sample		137160		CDC	2006	We found evidence for association between GABRA1 and COGA alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol.											
147869		alcohol dependence	CHEMDEPENDENCY	CHEM		4	4p12	GABRA2	45946462	46087178		Covault, J.  et al. 2007	17507911				Gamma-aminobutyric acid (GABA) A receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000807.1	European		CDC GDP info	2555	Hs.116250			Neuropsychopharmacology    2007	Markers in the 5'-Region of GABRG1 Associate to Alcohol Dependence and are in Linkage Disequilibrium with Markers in the Adjacent GABRA2 Gene		137140		CDC	2007												
147873		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		15	15q11.2-q12	GABRA5	24663150	24777091		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, alpha 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000810.2			CDC GDP info	2558	Hs.24969			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		137142		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147876		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5q34	GABRA6	161045547	161061690		Comings, D. E.  et al. 2000	11140838				Gamma-aminobutyric acid (GABA) A receptor, alpha 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000811.1			CDC GDP info	2559	Hs.90791			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		137143		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
147884		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Postmortem Changes	5	5q34	GABRB2	160648013	160907708		Buckley, S. T.  et al. 2006	16766085				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1	Caucasian		CDC GDP info	2561	Hs.591728			Neurochem Int    2006	GABA(A) receptor beta isoform protein expression in human alcoholic brain		600232		CDC	2006												
147889		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	5	5q34	GABRB2	160648013	160907708		Loh, E. W.  et al. 2007	17440936				Gamma-aminobutyric acid (GABA) A receptor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021911.1			CDC GDP info	2561	Hs.591728			Am J Med Genet B Neuropsychiatr Genet    2007	Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population		600232		CDC	2007												
147893	N	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Epilepsy, Absence	15	15q11.2-q12	GABRB3	24339786	24767432		Hempelmann, A.  et al. 2007	17215107			promoter	Gamma-aminobutyric acid (GABA) A receptor, beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000814.4	German		CDC GDP info	2562	Hs.302352			Epilepsy Res    2007	Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy		137192		CDC	2007	Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE.											
147898	Y	epilepsy	NEUROLOGICAL	NEUR	Epilepsy, Generalized|Genetic Predisposition to Disease	5	5q31.1-q33.1	GABRG2	161427294	161515106		Chou, I. C.  et al. 2007	17162195				Gamma-aminobutyric acid (GABA) A receptor, gamma 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198904.1			CDC GDP info	2566	Hs.7195			Pediatr Neurol    2007    36(1)    40-4	Association of GABRG2 Polymorphisms With Idiopathic Generalized Epilepsy		137164		CDC	2007												
147900		autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	15	15q12	GABRG3	24799262	25451729		Ashley-Koch, A. E.  et al. 2006	16674551				Gamma-aminobutyric acid (GABA) A receptor, gamma 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033223.1	Caucasian		CDC GDP info	2567	Hs.569475			Ann Hum Genet    2006    70(Pt 3)    281-92	An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease		600233		CDC	2006												
147908	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	10	10p11.23	GAD2	26545599	26633493		Zhao, X.  et al. 2007	17412563				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1			CDC GDP info	2572	Hs.231829			Schizophr Res    2007	Systematic study of association of four GABAergic genes		138275		CDC	2007												
147922	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	3	3q21.3	GATA2	129680959	129694718		Connelly, J. J.  et al. 2006	16934006				GATA binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK127845			CDC GDP info	2624	Hs.367725			PLoS Genet    2006    2(8)	GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease		137295		CDC	2006												
147926		Gaucher disease	METABOLIC	MET	Gaucher Disease	1	1q21	GBA	153450239	153463837		Rozenberg, R.  et al. 2006	16981045				Glucosidase, beta; acid (includes glucosylceramidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000157.2	Brazilian		CDC GDP info	2629	Hs.282997			Braz J Med Biol Res    2006    39(9)    1171-9	High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients		606463		CDC	2006												
147931		asthma	IMMUNE	IMM	Asthma	4	4q12-q13	GC	72826274	72890101		Wjst, M.  et al. 2006	16600026				Group-specific component (vitamin D binding protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000583.2	German		CDC GDP info	2638	Hs.418497			Respir Res    2006    7(1)    60	Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway		139200		CDC	2006												
147938		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	7	7p15.3-p15.1	GCK	44150394	44195563		Hwang, J. S.  et al. 2006	16632067				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2	Japanese;Chinese;Caucasian;Korean		CDC GDP info	2645	Hs.1270			Diabetes Res Clin Pract    2006	Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients		138079		CDC	2006	the mutations in the HNF-1alpha gene and GCK account for a small proportion, about 5% and 2.5%, respectively, in Korean MODY and early onset type 2 patients. The majority of MODY cases in the Korean population are due to defects in unknown genes.											
147943	Y	birth weight glucose	METABOLIC	MET	Birth Weight	7	7p15.3-p15.1	GCK	44150394	44195563		Weedon, M. N.  et al. 2006	17186458				Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000162.2			CDC GDP info	2645	Hs.1270			Am J Hum Genet    2006    79(6)    991-1001	A common haplotype of the glucokinase gene alters fasting glucose and birth weight		138079		CDC	2006	a comprehensive analysis of common variation of the glucokinase gene shows that this is the first gene to be reproducibly associated with fasting glucose and fetal growth.											
147947		berylliosis	OTHER	OTH	Berylliosis|Chronic Disease|Genetic Predisposition to Disease	6	6p12	GCLC	53470098	53517790		Bekris, L. M.  et al. 2006	16766924				Glutamate-cysteine ligase, catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001498.2			CDC GDP info	2729	Hs.271264			J Occup Environ Med    2006    48(6)    599-606	Chronic Beryllium Disease and Glutathione Biosynthesis Genes		606857		CDC	2006	This study suggests that GSH modulation may play a role in CBD pathogenesis, but not in sensitization to beryllium.											
147951		methylmercury retention	PHARMACOGENOMIC	PHARM		1	1p22.1	GCLM	94125177	94147600		Custodio, H. M.  et al. 2004	16599007				Glutamate-cysteine ligase, modifier subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002061.2			CDC GDP info	2730	Hs.315562			Arch Environ Health    2004    59(11)    588-95	Polymorphisms in glutathione-related genes affect methylmercury retention		601176		CDC	2004												
147956		hyperglycinemia, nonketotic	METABOLIC	MET	Hyperglycinemia, Nonketotic	16	16q23.2	GCSH	79673429	79687481		Kure, S.  et al. 2006	16450403				Glycine cleavage system protein H (aminomethyl carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM474983	Caucasian		CDC GDP info	2653	Hs.546256			Hum Mutat    2006	Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia		238330		CDC	2006												
147970		protein C protein S	CARDIOVASCULAR	CARD	Cerebrovascular Accident	2	2p12	GGCX	85629713	85642090		Kimura, R.  et al. 2006	17189218				Gamma-glutamyl carboxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000821.3			CDC GDP info	2677	Hs.77719			Int J Hematol    2006    84(5)    387-97	Polymorphisms in Vitamin K-Dependent gamma-Carboxylation-Related Genes Influence Interindividual Variability in Plasma Protein C and Protein S Activities in the General Population		137167		CDC	2006												
147974	P		NORMALVARIATION	NV		8	8q12.3	GGH	64090192	64113940		Hayashi, H.  et al. 2007	17409534				Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003878.1	Japanese;Caucasian		CDC GDP info	8836	Hs.78619			Biol Pharm Bull    2007    30(4)    839-41	Genetic polymorphism of C452T (T127I) in human gamma-glutamyl hydrolase in a Japanese population		601509		CDC	2007												
147979		hypertension stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Hypertension	5	5p13-p12	GHR	42459782	42757683		Horan, M.  et al. 2006	16572267				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Hum Genet    2006	Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke		600946		CDC	2006												
147986	N	height	DEVELOPMENTAL	DEV	Dwarfism|Laron Syndrome	5	5p13-p12	GHR	42459782	42757683		Guevara-Aguirre, J.  et al. 2007	17350302			splice	Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2			CDC GDP info	2690	Hs.125180			Growth Horm IGF Res    2007	Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature		600946		CDC	2007	GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. Heterozygosity is associated with reduction in mean statural SDS, but this is not sufficient to be clinically important and not mediated through measurable differences in circulating IGF-I or IGFBP-3 related to genotype.											
147992	Y	growth response to growth hormone therapy	PHARMACOGENOMIC	PHARM		5	5p13-p12	GHR	42459782	42757683		Tauber, M.  et al. 2007	17555507				Growth hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000163.2	Caucasian;European		CDC GDP info	2690	Hs.125180			Clin Endocrinol (Oxf)    2007	GH responsiveness in a large multinational cohort of SGA children with short stature (NESTEGG) is related to the exon 3 GHR polymorphism		600946		CDC	2007	Our data, based on a large cohort, showed that the exon 3 GHR polymorphism is associated with responsiveness to rhGH treatment in SGA children with short stature.											
148003	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Glucose Intolerance	3	3p26-p25	GHRL	10302433	10307409		Mager, U.  et al. 2006	16759313	GHRL Leu72Leu			Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2	Finnish		CDC GDP info	51738	Hs.590080			Diabet Med    2006    23(6)    685-9	Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in subjects with impaired glucose tolerance in the Finnish Diabetes Prevention Study		605353		CDC	2006	Subjects with the Leu72Leu genotype had a lower risk for the development of Type 2 diabetes.		diet physical activity									
148008		body mass ghrelin	METABOLIC	MET		3	3p26-p25	GHRL	10302433	10307409		Vartiainen, J.  et al. 2006	16979415				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			Metabolism    2006    55(10)    1420-5	Sequencing analysis of ghrelin gene 5' flanking region		605353		CDC	2006												
148012	N	height	DEVELOPMENTAL	DEV	Diabetes Mellitus, Type 2	3	3p26-p25	GHRL	10302433	10307409		Gueorguiev, M.  et al. 2007	17389697				Ghrelin precursor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016362.2			CDC GDP info	51738	Hs.590080			J Clin Endocrinol Metab    2007	Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a UK population with type 2 diabetes		605353		CDC	2007	Common genetic variation within GHRL is not responsible for variation in adult stature in this population.											
148016		atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Genetic Predisposition to Disease	3	3q26.31	GHSR	173645644	173648897		Baessler, A.  et al. 2007	17324965				Growth hormone secretagogue receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198407.1	Caucasian;German		CDC GDP info	2693	Hs.248115			Hum Mol Genet    2007	Epistatic interaction between haplotypes of the ghrelin ligand and receptor genes influence susceptibility to myocardial infarction and coronary artery disease		601898		CDC	2007												
148021	Y	atherosclerosis, coronary	CARDIOVASCULAR	CARD		1	1p35.1	GJA4	35031185	35033935		Han, Y. L.  et al. 2007	17418016	GJA4  C allele			Gap junction protein, alpha 4, 37kDa (connexin 37)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002060.2			CDC GDP info	2701	Hs.296310			Zhonghua Yi Xue Za Zhi    2007    87(2)    100-4	Association of C1019T polymorphism in the connexin37 gene and coronary artery disease in Chinese Han population.		121012		CDC	2007	The C allele in the CX37 gene might be associated with the susceptibility to CAD and potentially plays an important role in the manifestation of coronary atherosclerosis among Chinese.											
148026		audiometric analysis	OTHER	OTH	Deafness	13	13q11-q12	GJB2	19659604	19665114		Franze, A.  et al. 2005	15895291				Gap junction protein, beta 2, 26kDa (connexin 26)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004004.3			CDC GDP info	2706	Hs.591234			Eur Arch Otorhinolaryngol    2005    262(11)    921-4	Audiometric evaluation of carriers of the connexin 26 mutation 35delG		121011		CDC	2005												
148035		hearing loss, nonsyndromic sensorineural	OTHER	OTH	Hearing Loss|Syndrome|Genetic Predisposition to Disease	13	13q11-q12.1	GJB6	19694100	19704372			16406239				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2	Tunisian	Tunisia	CDC GDP info	10804	Hs.511757			Biochem Biophys Res Commun    2006    340(4)    1251-1258	Mutational analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in Tunisian patients with nonsyndromic hearing loss		604418		CDC	2006												
148038		hearing loss, sensorineural nonsyndromic	OTHER	OTH		13	13q11-q12.1	GJB6	19694100	19704372		Yuan, Y.  et al. 2007	17438853				Gap junction protein, beta 6 (connexin 30)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006783.2			CDC GDP info	10804	Hs.511757			Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi    2007    21(1)    3-6	GJB6 gene mutation analysis in Chinese nonsyndromic deaf population		604418		CDC	2007	Mutation of GJB6 gene is not frequent in Chinese non-syndromic hearing-loss population. Screening for GJB6 gene can be ranked as unconventional deaf gene test in China temporarily.											
148047	Y	blood pressure, arterial	CARDIOVASCULAR	CARD	Hypertension|Insulin Resistance	3	3p21	GNAI2	50238727	50271790		Menzaghi, C.  et al. 2006	16565233	GNAI2   -318 C>G		promoter	Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK126708	Caucasian		CDC GDP info	2771	Hs.77269			J Am Soc Nephrol    2006    17(4_suppl_2)    S115-S119	The -318 C>G Single-Nucleotide Polymorphism in GNAI2 Gene Promoter Region Impairs Transcriptional Activity through Specific Binding of Sp1 Transcription Factor and Is Associated with High Blood Pressure in Caucasians from Italy		139360		CDC	2006												
148053	Y	liver cancer	CANCER	CAN	Cholangiocarcinoma|Bile Duct Neoplasms	20	20q13.2-q13.3	GNAS	56848189	56919645		Schmitz, K. J.  et al. 2007	17356712				GNAS complex locus	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000516.4			CDC GDP info	2778	Hs.125898			Neoplasia    2007    9(2)    159-65	GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma		139320		CDC	2007	GNAS1 T393C is a novel independent host factor for disease progression in patients with ICC.											
148057	Y	dyspepsia	OTHER	OTH	Dyspepsia	12	12p13	GNB3	6819378	6826818		Camilleri, C. E.  et al. 2006	16464220				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Am J Gastroenterol    2006	A Study of Candidate Genotypes Associated with Dyspepsia in a U.S. Community		139130		CDC	2006	Meal-unrelated dyspepsia in a U.S. community study is associated with the homozygous 825T or C alleles of GNbeta3 protein. Candidate genes controlling adrenergic, serotonergic, and CCKergic functions do not appear to be associated with dyspepsia.											
148064	Y	depressive disorder, major	PSYCH	PSY	Depressive Disorder, Major	12	12p13	GNB3	6819378	6826818		Anttila, S.  et al. 2006	17066254				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			J Neural Transm    2006	Interaction between TPH1 and GNB3 genotypes and electroconvulsive therapy in major depression		139130		CDC	2006												
148069	N	irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Genetic Predisposition to Disease	12	12p13	GNB3	6819378	6826818		Saito, Y. A.  et al. 2007	17564628				Guanine nucleotide binding protein (G protein), beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002075.2			CDC GDP info	2784	Hs.631657			Neurogastroenterol Motil    2007    19(6)    465-70	A genetic association study of 5-HTT LPR and GNbeta3 C825T polymorphisms with irritable bowel syndrome		139130		CDC	2007												
148079		stroke	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Atherosclerosis	17	17pter-p12	GP1BA	4776371	4779067		Zhang, Y.  et al. 2006	17196570				Glycoprotein Ib (platelet), alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000173.3			CDC GDP info	2811	Hs.1472			Clin Chim Acta    2006	Platelet glycoprotein polymorphisms		606672		CDC	2006	In our Chinese cohort the D allele of the GP Iba VNTR polymorphism is associated with atherothrombotic stroke.											
148094	N	diabetic neuropathy	RENAL	REN	Diabetic Neuropathies|Diabetes Mellitus, Type 1	3	3p21.3	GPX1	49369612	49370795		Chistiakov, D. A.  et al. 2006	16523188			promoter	Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2	Russian		CDC GDP info	2876	Hs.76686			Diabetes Metab    2006    32(1)    63-8	The 262T>C promoter polymorphism of the catalase gene is associated with diabetic neuropathy in type 1 diabetic Russian patients		138320		CDC	2006	These data suggest a protective role of the -262T allele of the CAT gene against the rapid development of DN in T1D (Odds Ratio = 0.7 [95% confidence interval 0.54-0.9], P = 0.002).											
148101	Y	breast cancer	CANCER	CAN	Genetic Predisposition to Disease	3	3p21.3	GPX1	49369612	49370795		Cox, D. G.  et al. 2006	16945136				Glutathione peroxidase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000581.2			CDC GDP info	2876	Hs.76686			BMC Cancer    2006    6(1)    217	GenexGene interaction between MnSOD and GPX-1 and breast cancer risk		138320		CDC	2006	Polymorphisms in the GPX-1 and MnSOD genes are associated with an increased risk of breast cancer.											
148109	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident|Genetic Predisposition to Disease|Anoxia	5	5q23	GPX3	150380191	150388747		Voetsch, B.  et al. 2006	17122425			promoter	Glutathione peroxidase 3 (plasma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002084.3			CDC GDP info	2878	Hs.386793			Stroke    2006	Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene. A Novel Risk Factor for Arterial Ischemic Stroke Among Young Adults and Children		138321		CDC	2006	These findings indicate that a novel GPx-3 promoter haplotype is an independent risk factor for AIS in children and young adults. This haplotype reduces the gene\s transcriptional activity, thereby compromising gene expression and plasma antioxidant and antithrombotic activities.											
148114		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q33|5q31.1	GRIA1	152850498	153171354			16526023				Glutamate receptor, ionotropic, AMPA 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209094	Italian		CDC GDP info	2890	Hs.519693			Am J Med Genet B Neuropsychiatr Genet    2006	Glutamate AMPA receptor subunit 1 gene (GRIA1) and DSM-IV-TR schizophrenia		138248		CDC	2006												
148118	Y	depressive disorder, major	PSYCH	PSY	Recurrence|Bipolar Disorder|Depressive Disorder, Major	1	1p34-p33	GRIK3	37039200	37272431		Schiffer, H. H.  et al. 2006	16958029				Glutamate receptor, ionotropic, kainate 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000831.2			CDC GDP info	2899	Hs.2389			Am J Med Genet B Neuropsychiatr Genet    2006	Association of the human kainate receptor GluR7 gene (GRIK3) with recurrent major depressive disorder		138243		CDC	2006												
148123		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	16	16p13.2	GRIN2A	9762922	10184112		Zhao, X.  et al. 2006	16476413				Glutamate receptor, ionotropic, N-methyl D-aspartate 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000833.2			CDC GDP info	2903	Hs.567280			Biol Psychiatry    2006	Significant Association Between the Genetic Variations in the 5' End of the N-Methyl-D-Aspartate Receptor Subunit Gene GRIN1 and Schizophrenia		138253		CDC	2006	Our results provide support for the hypothesis that NMDA receptors are an important factor in schizophrenia.											
148127		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Postmortem Changes	12	12p12	GRIN2B	13605410	14024319		Buckley, S. T.  et al. 2006	16766085				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2	Caucasian		CDC GDP info	2904	Hs.445066			Neurochem Int    2006	GABA(A) receptor beta isoform protein expression in human alcoholic brain		138252		CDC	2006												
148131		Huntington's disease	NEUROLOGICAL	NEUR		12	12p12	GRIN2B	13605410	14024319		Arning, L.  et al. 2007	17569088				Glutamate receptor, ionotropic, N-methyl D-aspartate 2B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000834.2			CDC GDP info	2904	Hs.445066			Hum Genet    2007	NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner		138252		CDC	2007	female HD patients homozygous for the CC genotype tended to have later AO compared to the other two genotypes.		menopause									
148155		polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	3	3q13.3	GSK3B	121028235	121295203		Goodarzi, M. O.  et al. 2007	17270183				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Fertil Steril    2007	Preliminary evidence of glycogen synthase kinase 3 beta as a genetic determinant of polycystic ovary syndrome		605004		CDC	2007												
148181		chromosome damage DNA damage	OTHER	OTH		1	1p13.3	GSTM1	110031964	110037890		Iarmarcovai, G.  et al. 2006	16551674				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Mutagenesis    2006	A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders		138350		CDC	2006												
148195		gallbladder cancer	CANCER	CAN	Gallbladder Neoplasms|Gallstones|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Pandey, S. N.  et al. 2006	16760134				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2		India	CDC GDP info	2944	Hs.301961			Biomarkers    2006    11(3)    250-61	Genetic polymorphisms in GSTM1, GSTT1, GSTP1, GSTM3 and the susceptibility to gallbladder cancer in North India		138350		CDC	2006			gallstones									
148206		Elers-Danlose syndrome	OTHER	OTH	Ehlers-danlos Syndrome	1	1p13.3	GSTM1	110031964	110037890			17020091				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Radiats Biol Radioecol    2006    46(4)    424-8	Genetic polymorphism of glutathione-S-transferases and inhibition of DNA repair		138350		CDC	2006												
148208		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	1	1p13.3	GSTM1	110031964	110037890		Golbe, L. I.  et al. 2006	17034008				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Greek;Italian		CDC GDP info	2944	Hs.301961			Am J Med Genet B Neuropsychiatr Genet    2006	Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease		138350		CDC	2006												
148216		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Bufalo, N. E.  et al. 2006	17158763				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Endocr Relat Cancer    2006    13(4)    1185-93	Smoking and susceptibility to thyroid cancer		138350		CDC	2006			smoking (tobacco)									
148219		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Lee, K.  et al. 2006	17171211				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Rev Med Chil    2006    134(9)    1107-1115	Cytochrome P4501A1 (CYP1A1), glutathione S transferase M1 (GSTM1) polymorphisms and their association with smoking and alcohol consumption as gastric cancer susceptibility biomarkers.		138350		CDC	2006	Subjects that carry the m2 allelic variant of CYP1A1 and are exposed to tobacco smoke or alcohol have a significantly higher risk of developing gastric cancer.		alcohol smoking (tobacco)									
148233		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Gonzalez, A.  et al. 2004	17361553				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Rev Biol Trop    2004    52(3)    591-600	Polymorphisms in detoxification genes CYP1A1, CYP2E1, GSTT1 and GSTM1 in gastric cancer susceptibility		138350		CDC	2004												
148235		leukemia	CANCER	CAN	Leukemia, Myeloid|Myelodysplastic Syndromes|Acute Disease|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Bolufer, P.  et al. 2007	17367411				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Br J Haematol    2007    136(4)    590-6	Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia		138350		CDC	2007												
148241		PAH-DNA adducts	METABOLIC	MET		1	1p13.3	GSTM1	110031964	110037890		Binkova, B.  et al. 2007	17412371				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Mutat Res    2007	PAH-DNA adducts in environmentally exposed population in relation to metabolic and DNA repair gene polymorphisms		138350		CDC	2007												
148246	Y	arsenic metabolism	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Engstrom, K. S.  et al. 2007	17450230				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Environ Health Perspect    2007    115(4)    599-605	Genetic polymorphisms influencing arsenic metabolism		138350		CDC	2007	these findings indicate that polymorphisms in AS3MT-and possibly GSTM1, GSTT1, MTR, and MTHFR-are responsible for a large part of the interindividual variation in As metabolism and susceptibility.											
148247		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Lung Neoplasms	1	1p13.3	GSTM1	110031964	110037890		Osawa, Y.  et al. 2007	17477782				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Asian Pac J Cancer Prev    2007    8(1)    103-8	NAT2 and CYP1A2 Polymorphisms and Lung Cancer Risk in Relation to Smoking Status		138350		CDC	2007			smoking (tobacco)									
148251	N	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Kim, S. H.  et al. 2007	17513317				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2	Korean		CDC GDP info	2944	Hs.301961			Hum Reprod    2007	Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes		138350		CDC	2007	These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.											
148263	N	docetaxel pharmacokinetics docetaxel toxicity	PHARMACOGENOMIC	PHARM		1	1p13.3	GSTM3	110078076	110084656		Tran, A.  et al. 2006	16765145				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Clin Pharmacol Ther    2006    79(6)    570-580	Pharmacokinetics and toxicity of docetaxel		138390		CDC	2006	Patients carrying the CYP3A*1B allele may have enhanced docetaxel clearance and may be underexposed, whereas those carrying GSTP1*A/*B and 3435TT genotypes may have excessive hematologic toxicity. Further studies are warranted to determine the usefulness of genotyping before docetaxel treatment.											
148269	N	lung cancer	CANCER	CAN	Mesothelioma|Pleural Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM3	110078076	110084656		Landi, S.  et al. 2007	17290392				Glutathione S-transferase M3 (brain)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000849.3			CDC GDP info	2947	Hs.2006			Int J Cancer    2007	Polymorphisms of glutathione-S-transferase M1 and manganese superoxide dismutase are associated with the risk of malignant pleural mesothelioma		138390		CDC	2007			asbestos									
148279		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	10	10q25.1	GSTO2	106018620	106049166		Pongstaporn, W.  et al. 2006	16761626				Glutathione S-transferase omega 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_183239.1			CDC GDP info	119391	Hs.203634			J Exp Clin Cancer Res    2006    25(1)    107-14	Genetic alterations in chromosome 10q24.3 and glutathione S-transferase omega 2 gene polymorphism in ovarian cancer				CDC	2006												
148290		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Tobacco Use Disorder	11	11q13	GSTP1	67107861	67110699		Nock, N. L.  et al. 2006	16614120				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Caucasian		CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2006    15(4)    756-61	Polymorphisms in polycyclic aromatic hydrocarbon metabolism and conjugation genes, interactions with smoking and prostate cancer risk		134660		CDC	2006			smoking (tobacco)									
148291	N	stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Hong, S. H.  et al. 2006	16615268				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Japanese;Chinese;Korean	Far East	CDC GDP info	2950	Hs.523836			J Prev Med Pub Health    2006    39(2)    135-40	Glutathione S-transferases (GSTM1, GSTT1 and GSTP1) and N-acetyltransferase 2 polymorphisms and the risk of gastric cancer		134660		CDC	2006	These results suggest that the hometown and socio-economic status are important environmental factors for gastric carcinogenesis, and NAT2 polymorphic types could be associated with familial gastric carcinoma.		alcohol family history Helicobacter pylori smoking (tobacco)									
148301	N	cervical cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms	11	11q13	GSTP1	67107861	67110699		Chung, H. H.  et al. 2006	16875718				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Gynecol Oncol    2006	XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer		134660		CDC	2006	Genetic polymorphism of XRCC1 R399Q is associated with response to platinum-based NAC in bulky cervical cancer, and MDR analysis documented association between gene-gene interaction of XRCC1 R399Q and treatment response.		chemotherapy									
148305		bladder cancer	PHARMACOGENOMIC	PHARM	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Fortuny, J.  et al. 2006	16985032				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Cancer Epidemiol Biomarkers Prev    2006    15(9)    1696-702	Use of Analgesics and Nonsteroidal Anti-inflammatory Drugs, Genetic Predisposition, and Bladder Cancer Risk in Spain		134660		CDC	2006	Regular use of nonaspirin NSAIDs was associated with a reduced risk of bladder cancer, which was not modified by polymorphisms in the NSAID-metabolizing gene CYP2C9. We found no evidence of an overall effect for paracetamol or aspirin use.		acetaminophen aspirin maetamizol nonsteroidal anti-inflammatory (NSAID) phenacetin									
148313		DNA adducts	OTHER	OTH		11	11q13	GSTP1	67107861	67110699		Jiao, L.  et al. 2006	17158087				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		134660		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
148317		methotrexate toxicity	PHARMACOGENOMIC	PHARM	Leukemia, Lymphocytic, Acute, L1|Lymphoma|Liver Diseases|Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Imanishi, H.  et al. 2006	17180579				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Hum Genet    2006	Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma		134660		CDC	2006	GSTM1 positive/null and RFC1 G80A polymorphisms could be predictors for hepatotoxicity, and the MTHFR C677T polymorphism is associated with elimination of methotrexate.											
148322	Y	arsenic toxicity	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Arsenic Poisoning	11	11q13	GSTP1	67107861	67110699		Mc Carty, K. M.  et al. 2007	17284320				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2		India	CDC GDP info	2950	Hs.523836			Environ Health    2007    6(1)    5	A case-control study of GST polymorphisms and arsenic related skin lesions		134660		CDC	2007	GSTT1 wildtype and GSTP1 GG are associated with increased risk of skin lesions.											
148325	N	multiple myeloma	PHARMACOGENOMIC	PHARM	Multiple Myeloma	11	11q13	GSTP1	67107861	67110699		Schilthuizen, C.  et al. 2007	17296590				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Haematologica    2007    92(2)    277-8	Influence of genetic polymorphisms in CYP3A4, CYP3A5, GSTP1, GSTM1, GSTT1 and MDR1 genes on survival and therapy-related toxicity in multiple myeloma		134660		CDC	2007			chemotherapy									
148333		isothiocyanates	PHARMACOGENOMIC	PHARM		11	11q13	GSTP1	67107861	67110699		Steck, S. E.  et al. 2007	17374652				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			J Nutr    2007    137(4)    904-909	GSTM1, GSTT1, GSTP1, and GSTA1 Polymorphisms and Urinary Isothiocyanate Metabolites following Broccoli Consumption in Humans		134660		CDC	2007												
148340	N	benzene toxicity	PHARMACOGENOMIC	PHARM		11	11q13	GSTP1	67107861	67110699		Sun, P.  et al. 2007	17424838	MPO rs7208693 A			Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Wei Sheng Yan Jiu    2007    36(1)    11-5	Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning	rs7208693	134660		CDC	2007	The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.		smoking (tobacco)									
148346		skin cancer, non-melanoma	CANCER	CAN		11	11q13	GSTP1	67107861	67110699		Leite, J. L.  et al. 2007	17505575				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2	Brazilian		CDC GDP info	2950	Hs.523836			Rev Med Chil    2007    135(3)    301-306	Influence of the glutathione s-transferase gene polymorphisms on the susceptibility to basal cell skin carcinoma		134660		CDC	2007	The GST profile may help identify Brazilian individuals at higher risk for BCC.											
148350		organophosphate toxicity	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease	11	11q13	GSTP1	67107861	67110699		Povey, A. C.  et al. 2007	17536768				Glutathione S-transferase pi	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000852.2			CDC GDP info	2950	Hs.523836			Biomarkers    2007    12(2)    188-202	GST CYP and PON1 polymorphisms in farmers attributing ill health to organophosphate-containing sheep dip		134660		CDC	2007			diazinon									
148362		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Kellen, E.  et al. 2007	16504378				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Lett    2007    245(1-2)    51-60	Does occupational exposure to PAHs, diesel and aromatic amines interact with smoking and metabolic genetic polymorphisms to increase the risk on bladder cancer?; The Belgian case control study on bladder cancer risk		600436		CDC	2007			aromatic amines smoking (tobacco)									
148369		chromosome damage DNA damage	OTHER	OTH		22	22q11.23	GSTT1	22706140	22714231		Iarmarcovai, G.  et al. 2006	16551674				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Mutagenesis    2006	A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders		600436		CDC	2006												
148373	N	DNA damage	OTHER	OTH	DNA Damage	22	22q11.23	GSTT1	22706140	22714231		Liu, Y. J.  et al. 2006	16614106				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Epidemiol Biomarkers Prev    2006    15(4)    659-66	GSTP1 Genetic Polymorphism Is Associated with a Higher Risk of DNA Damage in Pesticide-Exposed Fruit Growers		600436		CDC	2006			pesticide exposure									
148377	N	colorectal cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Fan, C. H.  et al. 2006	16620591				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(1)    13-7	Association between genetic polymorphisms of metabolic enzymes and susceptibility of colorectal cancer		600436		CDC	2006	This study suggests that CYP1A1 and UGT1A7 variants might be associated with colorectal cancer.											
148381		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Yang, J.  et al. 2006	16720291				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1		China	CDC GDP info	2952	Hs.268573			Front Biosci    2006    11    2052-60	Polymorphisms of metabolic enzyme genes, living habits and prostate cancer susceptibility		600436		CDC	2006			alcohol drinking behavior sexual history smoking (tobacco) tea toxicant									
148394		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	22	22q11.23	GSTT1	22706140	22714231		Golbe, L. I.  et al. 2006	17034008				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Greek;Italian		CDC GDP info	2952	Hs.268573			Am J Med Genet B Neuropsychiatr Genet    2006	Glutathione S-transferase polymorphisms and onset age in alpha-synuclein A53T mutant Parkinson's disease		600436		CDC	2006												
148398		skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Carcinoma, Squamous Cell|Skin Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Lira, M. G.  et al. 2006	17083362				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Exp Dermatol    2006    15(12)    958-65	Glutathione S-transferase and CYP1A1 gene polymorphisms and non-melanoma skin cancer risk in Italian transplanted patients		600436		CDC	2006												
148403	N	head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Goloni-Bertollo, E. M.  et al. 2006	17160315				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Rev Assoc Med Bras    2006    52(5)    365-8	Evaluation of the influence of GSTT1 AND GSTM1 null genotypes in head and neck carcinogenesis.		600436		CDC	2006	In our study, it was impossible to establish the influence of the GSTT1 and GSTM1 null genotypes in head and neck carcinogenesis.											
148416	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Nordgard, S. H.  et al. 2007	17301692				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Caucasian		CDC GDP info	2952	Hs.268573			Pharmacogenet Genomics    2007    17(2)    127-136	ABCB1 and GST polymorphisms associated with TP53 status in breast cancer		600436		CDC	2007	An association between polymorphisms in GSTP1 and ABCB1 and risk of acquiring intratumoral TP53 mutations suggests the existence of putative predisposing genotype backgrounds.											
148420		liver cancer	CANCER	CAN	Adenoma, Liver Cell|Liver Neoplasms|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Jeannot, E.  et al. 2007	17363580				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			Cancer Res    2007    67(6)    2611-6	Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1{alpha}-Mutated Hepatocellular Adenoma		600436		CDC	2007	our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations.											
148425		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms	22	22q11.23	GSTT1	22706140	22714231		Ruzzo, A.  et al. 2007	17401013				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1			CDC GDP info	2952	Hs.268573			J Clin Oncol    2007    25(10)    1247-54	Pharmacogenetic Profiling in Patients With Advanced Colorectal Cancer Treated With First-Line FOLFOX-4 Chemotherapy		600436		CDC	2007	A pharmacogenetic approach may be an innovative strategy for optimizing palliative chemotherapy in patients with advanced colorectal cancer.		chemotherapy									
148437	Y	endometriosis	REPRODUCTION	REP	Endometriosis|Genetic Predisposition to Disease	22	22q11.23	GSTT1	22706140	22714231		Kim, S. H.  et al. 2007	17513317				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Korean		CDC GDP info	2952	Hs.268573			Hum Reprod    2007	Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes		600436		CDC	2007	These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.											
148443		kidney cancer	CANCER	CAN		22	22q11.23	GSTT1	22706140	22714231		Moore, L.  et al. 2007	17617661				Glutathione S-transferase theta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000853.1	Czech Republic, Poland, Romania, and Russia		CDC GDP info	2952	Hs.268573			Carcinogenesis    2007	Glutathione S-transferase polymorphisms, cruciferous vegetable intake, and cancer risk in the Central and Eastern European Kidney Cancer Study		600436		CDC	2007			diet									
148475		anemia	HEMATOLOGICAL	HEM	Parasitemia|Malaria|Anemia	11	11p15.5	HBB	5203271	5204877		Atkinson, S. H.  et al. 2006	16637741				Hemoglobin, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000518.4	Gambia	Gambia	CDC GDP info	3043	Hs.523443			PLoS Med    2006    3(5)    e172	Seasonal Childhood Anaemia in West Africa Is Associated with the Haptoglobin 2-2 Genotype		141900		CDC	2006	The finding that haptoglobin 2-2 genotype is a risk factor for anaemia in children in a malaria-endemic area may reflect the reduced ability of the Hp2-2 polymer to scavenge free haemoglobin-iron following malaria-induced haemolysis. The magnitude of the effect of haptoglobin genotype (4 g/l Hb difference, p = 0.0009) was comparable to that of G6PD deficiency or HbAS (3 g/l difference, p = 0.03; and 2 g/l difference, p = 0.68, respectively).											
148488	Y	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	20	20q11-q12	HCK	30103717	30153318		Zhang, X.  et al. 2006	17024369				Hemopoietic cell kinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK225819			CDC GDP info	3055	Hs.655210			Hum Genet    2006	Association of Hck genetic polymorphisms with gene expression and COPD		142370		CDC	2006			smoking (tobacco)									
148492	N	cluster headache	PHARMACOGENOMIC	PHARM	Cluster Headache|Genetic Predisposition to Disease	6	6p11-q11	HCRTR2	55147029	55255377		Schurks, M.  et al. 2007	17376114	HCRTR2  G1246A			Hypocretin (orexin) receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001526.2		Germany	CDC GDP info	3062	Hs.151624			Cephalalgia    2007    27(4)    363-7	The G1246A polymorphism in the hypocretin receptor 2 gene is not associated with treatment response in cluster headache		602393		CDC	2007			corticosteroids oxygen triptans verapamil									
148494		cognitive function	PSYCH	PSY	Cognition Disorders|Huntington Disease	4	4p16.3	HD	3046205	3215485		Robins Wahlin, T. B.  et al. 2007	17201528				Huntingtin (Huntington disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002111.6			CDC GDP info	3064	Hs.518450			Neuropsychology    2007    21(1)    31-44	Early cognitive deficits in Swedish gene carriers of Huntington's disease		143100		CDC	2007	suggest that early cognitive deficits are detectable prior to motor symptoms, first in memory functions and then in executive functions and perceptual motor speed.											
148507		iron overload	METABOLIC	MET	Hemochromatosis|Iron Metabolism Disorders|Iron Overload	6	6p21.3	HFE	26195487	26205036		de Diego, C.  et al. 2006	17042772				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Eur J Haematol    2006	H63D homozygotes with hyperferritinaemia		235200		CDC	2006	The lack of additional mutations in our H63D homozygotes suggests that this genotype could be the primary cause of iron overload in these patients.											
148514	Y	ferritin	CARDIOVASCULAR	CARD	Kidney Failure, Chronic|Atherosclerosis|Disease Progression	6	6p21.3	HFE	26195487	26205036		Valenti, L.  et al. 2007	17299255				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Am J Nephrol    2007    27(1)    101-107	HFE Gene Mutations and Oxidative Stress Influence Serum Ferritin, Associated with Vascular Damage, in Hemodialysis Patients		235200		CDC	2007	In hemodialysis patients, hyperferritinemia reflects a relative increase in iron availability and a decrease in iron-specific antioxidant activity, is favored by HFE mutations, and represents a risk factor for advanced cardiovascular damage.											
148523	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Ulcer	14	14q21-q24	HIF1A	61231991	61284729		Fransen, K.  et al. 2006	16865676				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2			CDC GDP info	3091	Hs.509554			Mol Carcinog    2006	Association between ulcerative growth and hypoxia inducible factor-1alpha polymorphisms in colorectal cancer patients		603348		CDC	2006												
148525	Y	osteonecrosis	METABOLIC	MET	Femur Head Necrosis|Genetic Predisposition to Disease	14	14q21-q24	HIF1A	61231991	61284729		Hong, J. M.  et al. 2007	17292638				Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001530.2	Korean		CDC GDP info	3091	Hs.509554			Osteoarthritis Cartilage    2007	Association study of hypoxia inducible factor 1alpha (HIF1alpha) with osteonecrosis of femoral head in a Korean population		603348		CDC	2007	We found that HIF1alpha polymorphisms are associated with idiopathic ONFH in men.											
148529		Huntington's disease	NEUROLOGICAL	NEUR	Huntington Disease	7		HIP1	75001344	75206215		Metzger, S.  et al. 2006	16847693				Huntingtin interacting protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005338.4	European		CDC GDP info	3092	Hs.329266			Hum Genet    2006	Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease		601767		CDC	2006												
148541		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Xia, Q.  et al. 2006	16922942				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			J Eur Acad Dermatol Venereol    2006    20(8)    941-6	MHC haplotypic association in Chinese Han patients with vitiligo		142800		CDC	2006	This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.											
148556	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-A	29963507	30085130		Chang, Y. T.  et al. 2007	17388919				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5			CDC GDP info	3105	Hs.181244			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		142800		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
148588		sarcoidosis	IMMUNE	IMM		6	6p21.3	HLA-B	31344507	31432914		Morais, A.  et al. 2005	16969539				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Rev Port Pneumol    2005    11(6 Suppl 1)    32-3	HLA-class I and II genotyping in sarcoidosis patients.		142830		CDC	2005	This data adds support to the theory that HLA class I and II are associated with the sarcoidosis, its type of presentation, organ involvement and evolution.											
148610		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-B	31344507	31432914		Kawase, T.  et al. 2007	17554059				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5			CDC GDP info	3106	Hs.77961			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		142830		CDC	2007												
148616		psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Nair, R. P.  et al. 2006	16642438				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Am J Hum Genet    2006    78(5)    827-51	Sequence and Haplotype Analysis Supports HLA-C as the Psoriasis Susceptibility 1 Gene		142840		CDC	2006												
148624		ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative	6	6p21.3	HLA-C	31344507	31432914		Jones, D. C.  et al. 2006	16929347				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Genes Immun    2006	Killer Ig-like receptor (KIR) genotype and HLA ligand combinations in ulcerative colitis susceptibility		142840		CDC	2006												
148634	Y	psoriasis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	HLA-C	31344507	31432914		Suomela, S.  et al. 2007	17340018				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4	Finnish		CDC GDP info	3107	Hs.591791			Acta Derm Venereol    2007    87(2)    127-34	Clinical Associations of the Risk Alleles of HLA-Cw6 and CCHCR1*WWCC in Psoriasis		142840		CDC	2007												
148641		graft-versus-host disease	IMMUNE	IMM	Graft vs Host Disease|Acute Disease	6	6p21.3	HLA-C	31344507	31432914		Kawase, T.  et al. 2007	17554059				Major histocompatibility complex, class I, C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002117.4			CDC GDP info	3107	Hs.591791			Blood    2007	High-risk HLA allele mismatch combinations responsible for severe acute graft versus host disease and implication for its molecular mechanism		142840		CDC	2007												
148650		cytokine resposne	PHARMACOGENOMIC	PHARM		6	6p21.3	HLA-DPA1	33140771	33156522		Ovsyannikova, I. G.  et al. 2007	17234427				Major histocompatibility complex, class II, DP alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033554.2			CDC GDP info	3113	Hs.347270			Cytokine    2007	Human leukocyte antigen and interleukin 2, 10 and 12p40 cytokine responses to measles		142880		CDC	2007			measles vaccine									
148665		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DPB1	33151737	33162954		Voorter, C. E.  et al. 2007	17559577				Major histocompatibility complex, class II, DP beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002121.4			CDC GDP info	3115	Hs.485130			Tissue Antigens    2007    70(1)    18-27	HLA class II amino acid epitopes as susceptibility markers of sarcoidosis		142858		CDC	2007	pocket 9 of DQ and pocket 4 of DR seem to be the most important areas involved in the association with sarcoidosis.											
148668		thyroid cancer	CANCER	CAN	Adenocarcinoma, Follicular|Carcinoma, Papillary|Thyroid Neoplasms|Goiter, Nodular|Thyroiditis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Porto, T.  et al. 2006	16430717				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDP info	3117	Hs.387679			Clin Endocrinol (Oxf)    2006    64(2)    179-83	Association of HLA DQ4-DR8 haplotype with papillary thyroid carcinomas		146880		CDC	2006	We have typed the largest series of patients with thyroid carcinomas reported to date, and found that DR8 and DQ4 are independent susceptibility markers for PTC.											
148696		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DQA1	32713160	32722817		Kim, J. H.  et al. 2006	16890179				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		146880		CDC	2006												
148703		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQA1	32713160	32722817		Kubler, K.  et al. 2006	17016821				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3	Caucasian		CDC GDP info	3117	Hs.387679			Int J Cancer    2006	HLA-class II haplotype associations with ovarian cancer		146880		CDC	2006												
148707		abdominal aortic aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal	6	6p21.3	HLA-DQA1	32713160	32722817		Tromp, G.  et al. 2006	17182961				Major histocompatibility complex, class II, DQ alpha 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002122.3			CDC GDP info	3117	Hs.387679			Ann N Y Acad Sci    2006    1085    392-5	HLA-DQA Is Associated with Abdominal Aortic Aneurysms in the Belgian Population		146880		CDC	2006	this study showed potential evidence that the HLA-DQA1 locus harbors a genetic risk factor for AAAs suggesting that autoimmunity plays a role in the pathogenesis of AAAs.											
148760		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1	6	6p21.3	HLA-DQB1	32735641	32742374		Nakanishi, K.  et al. 2006	16731854				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDP info	3119	Hs.409934			Diabetes    2006    55(6)    1862-8	Combination of HLA-A24, -DQA1*03, and -DR9 Contributes to Acute-Onset and Early Complete {beta}-Cell Destruction in Type 1 Diabetes		604305		CDC	2006												
148765		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Shawkatova, I.  et al. 2006	16796128				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Bratisl Lek Listy    2006    107(3)    76-9	HLA class II allele frequencies in type 1A diabetes mellitus Slovak patients		604305		CDC	2006	Our results, consistent with other studies, show increased frequencies of known positively associated HLA class II alleles in our type 1A diabetes mellitus patients compared to the general (nondiabetic) population.											
148785		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DQB1	32735641	32742374		Kim, J. H.  et al. 2006	16890179				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		604305		CDC	2006												
148792		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Xia, Q.  et al. 2006	16922942				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Eur Acad Dermatol Venereol    2006    20(8)    941-6	MHC haplotypic association in Chinese Han patients with vitiligo		604305		CDC	2006	This study demonstrates not only the differential association between HLA markers and types of vitiligo according to distribution or age at onset but also newly found high-risk haplotypes in Chinese vitiligo patients.											
148796		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Aly, T. A.  et al. 2006	16966600				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Proc Natl Acad Sci U S A    2006	Extreme genetic risk for type 1A diabetes		604305		CDC	2006												
148804	Y	hepatitis type 2, autoimmune	IMMUNE	IMM	Hepatitis, Autoimmune|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Djilali-Saiah, I.  et al. 2006	17050030				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Caucasian		CDC GDP info	3119	Hs.409934			J Hepatol    2006    45(6)    844-50	HLA class II influences humoral autoimmunity in patients with type 2 autoimmune hepatitis		604305		CDC	2006	The HLA-DR locus is involved in autoantibody expression, while the DQ locus appears to be a critical determinant for the development of type 2 AIH.											
148811		diabetes, type 1	IMMUNE	IMM	Diabetic Ketoacidosis|Diabetes Mellitus, Type 1|Hyperglycemia	6	6p21.3	HLA-DQB1	32735641	32742374		Kawasaki, E.  et al. 2006	17130528				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2		Japan	CDC GDP info	3119	Hs.409934			Ann N Y Acad Sci    2006    1079    24-30	Genetics of fulminant type 1 diabetes		604305		CDC	2006												
148819	Y	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Jores, R. D.  et al. 2007	17190762				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Scand J Gastroenterol    2007    42(1)    48-53	HLA-DQB1*0201 homozygosis predisposes to severe intestinal damage in celiac disease		604305		CDC	2007	The genetic predisposition at the HLA-DQB1 locus influences the severity of the mucosal damage in a dose-dependent manner, but not the clinical presentation, of celiac disease.											
148824		leukemia	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Sarafnejad, A.  et al. 2006	17237562				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Iranian	Iran	CDC GDP info	3119	Hs.409934			Iran J Allergy Asthma Immunol    2006    5(3)    115-9	HLA class II Allele and Haplotype Frequencies in Iranian Patients with Acute Myelogenous Leukemia and Control Group		604305		CDC	2006												
148827		cholangitis, sclerosing	IMMUNE	IMM	Cholangitis, Sclerosing|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Wiencke, K.  et al. 2007	17257319				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Norwegian		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(2)    161-9	Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes		604305		CDC	2007	our study shows that a gene in LD with D6S265 contributes to susceptibility to develop PSC in individuals carrying DR6.											
148841		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Alizadeh, B. Z.  et al. 2007	17350686				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Mol Immunol    2007	MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes		604305		CDC	2007												
148847		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Saenz-Cantele, A. M.  et al. 2007	17389015				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Jewish;Venezuelan		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69(4)    318-25	HLA-DRB1*0402 haplotypes without DQB1*0302 in Venezuelan patients with pemphigus vulgaris		604305		CDC	2007												
148864	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Zivadinov, R.  et al. 2007	17531857				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Int Rev Neurobiol    2007    79C    521-535	HLA-DRB1*1501, -DQB1*0301, -DQB1*0302, -DQB1*0602, and -DQB1*0603 Alleles are Associated With More Severe Disease Outcome on Mri in Patients With Multiple Sclerosis		604305		CDC	2007												
148875		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Hirsch, D.  et al. 2007	17584585				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Israeli		CDC GDP info	3119	Hs.409934			Hum Immunol    2007    68(7)    616-22	Immunogenetics of HLA class II in Israeli patients with adult-onset Type 1 diabetes mellitus		604305		CDC	2007												
148883		pityriasis rosea	IMMUNE	IMM	Pityriasis Rosea|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559			16405603				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Brazilian		CDC GDP info	3123	Hs.534322			J Eur Acad Dermatol Venereol    2006    20(1)    21-6	Correlation between HLA and pityriasis rosea susceptibility in Brazilian blacks		142857		CDC	2006	We suggest that alleles DQB1*04 may be involved in the genetic susceptibility of PR based on the significant predominance of those alleles observed in the black PR patients. We also recommend that more studies are conducted on populations of other ethnic origins, preferentially with higher resolution techniques of DNA typing.											
148910	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Niks, E. H.  et al. 2006	16769963				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1		Netherlands	CDC GDP info	3123	Hs.534322			Neurology    2006    66(11)    1772-4	Strong association of MuSK antibody-positive myasthenia gravis and HLA-DR14-DQ5		142857		CDC	2006												
148926		hepatitis B	INFECTION	INF		6	6p21.3	HLA-DRB1	32593131	32665559		Kim, J. H.  et al. 2006	16890179				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Hepatol Res    2006    35(2)    118-26	Alteration of the influences of HLA classes I and II alleles on the perinatal hepatitis B virus infection after immunoprophylaxis in Korean children		142857		CDC	2006												
148932	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Buc, M.  et al. 2006	16964961				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Endocr Regul    2006    40(1)    1-6	Associations between HLA class II alleles and type 1 diabetes mellitus in the Slovak population		142857		CDC	2006												
148948		HIV	INFECTION	INF	HIV Infections	6	6p21.3	HLA-DRB1	32593131	32665559		Li, S.  et al. 2006	17106278				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Acquir Immune Defic Syndr    2006	Human Leukocyte Antigen Class I and Class II Allele Frequencies and HIV-1 Infection Associations in a Chinese Cohort		142857		CDC	2006												
148953		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Kawabata, Y.  et al. 2006	17130566				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Ann N Y Acad Sci    2006    1079    278-84	A Second Component of HLA-Linked Susceptibility to Type 1 Diabetes Maps to Class I Region		142857		CDC	2006												
148958		nephrotic syndrome	RENAL	REN	Nephrotic Syndrome	6	6p21.3	HLA-DRB1	32593131	32665559		Gulati, S.  et al. 2006	17180363				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian		CDC GDP info	3123	Hs.534322			Pediatr Nephrol    2006	Is typing for HLA class II alleles beneficial in Indian children with idiopathic nephrotic syndrome?		142857		CDC	2006	HLA typing in Indian children with NS helps to predict relapse frequency and steroid resistance.											
148961		acute coronary syndrome atherosclerosis, coronary cholesterol, LDL smoking behavior	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Palikhe, A.  et al. 2007	17212707				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(1)    47-55	Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease		142857		CDC	2007	human MHC region harbors genes that protect from and predispose to CAD.											
148966		multiple sclerosis narcolepsy	IMMUNE	IMM	Multiple Sclerosis|Narcolepsy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Rubio, J. P.  et al. 2007	17256150				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Immunogenetics    2007    59(3)    177-86	Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients		142857		CDC	2007												
148982		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Alizadeh, B. Z.  et al. 2007	17350686				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			Mol Immunol    2007	MICA marks additional risk factors for Type 1 diabetes on extended HLA haplotypes		142857		CDC	2007												
148988		pemphigus	IMMUNE	IMM	Pemphigus|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Saenz-Cantele, A. M.  et al. 2007	17389015				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Jewish;Venezuelan		CDC GDP info	3123	Hs.534322			Tissue Antigens    2007    69(4)    318-25	HLA-DRB1*0402 haplotypes without DQB1*0302 in Venezuelan patients with pemphigus vulgaris		142857		CDC	2007												
148991	Y	hypertension, pulmonary arterial	CARDIOVASCULAR	CARD	Hypertension, Pulmonary|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Yoon, S. H.  et al. 2007	17406941				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Korean		CDC GDP info	3123	Hs.534322			Lung    2007	Association of HLA Class II Genes with Idiopathic Pulmonary Arterial Hypertension in Koreans		142857		CDC	2007												
149006		human papilloma virus/HPV	INFECTION	INF	Papillomavirus Infections|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		Mahmud, S. M.  et al. 2007	17538887				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1			CDC GDP info	3123	Hs.534322			J Infect Dis    2007    196(1)    82-90	HLA Polymorphisms and Cervical Human Papillomavirus Infection in a Cohort of Montreal University Students		142857		CDC	2007	The results of this study support the hypothesis that certain HLA class II polymorphisms mediate genetic susceptibility to the acquisition of HPV infection.											
149017	Y	hypothyroidism, goitrous juvenile autoimmune	IMMUNE	IMM	Graves Disease|Hypothyroidism|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB1	32593131	32665559		L, R. P.  et al. 2007	17588142				major histocompatibility complex, class II, DR beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002124.1	Indian		CDC GDP info	3123	Hs.534322			J Clin Immunol    2007	Association of HLA DQ B1(*) and HLA DR B1 (*) Alleles with Goitrous Juvenile Autoimmune Hypothyroidism-A Case Control Study		142857		CDC	2007												
149025	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB3	3870634	3883702		Roh, E. Y.  et al. 2006	17002906				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC008987	Japanese;Korean	Korea	CDC GDP info	3125	Hs.554754			Hum Immunol    2006    67(9)    749-55	Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects				CDC	2006												
149032	Y	narcolepsy	NEUROLOGICAL	NEUR	Narcolepsy|Cataplexy|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB4	32507027	32521973		Roh, E. Y.  et al. 2006	17002906				Major histocompatibility complex, class II, DR beta 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM919996	Japanese;Korean	Korea	CDC GDP info	3126	Hs.612586			Hum Immunol    2006    67(9)    749-55	Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects				CDC	2006												
149039		rheumatic heart disease	CARDIOVASCULAR	CARD	Rheumatic Heart Disease|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Kudat, H.  et al. 2006	16426242				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			Int J Immunogenet    2006    33(1)    41-4	The role of HLA molecules in susceptibility to chronic rheumatic heart disease		604776		CDC	2006												
149045		sarcoidosis	IMMUNE	IMM	Sarcoidosis|Genetic Predisposition to Disease	6	6p21.3	HLA-DRB5	32593131	32665559		Voorter, C. E.  et al. 2007	17559577				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BQ058692			CDC GDP info	3127	Hs.534322			Tissue Antigens    2007    70(1)    18-27	HLA class II amino acid epitopes as susceptibility markers of sarcoidosis		604776		CDC	2007	pocket 9 of DQ and pocket 4 of DR seem to be the most important areas involved in the association with sarcoidosis.											
149057		Behcet's disease	IMMUNE	IMM	Behcet Syndrome	6	6p21.3	HLA-G	29902722	30085613		Park, K. S.  et al. 2007	17257316				HLA-G histocompatibility antigen, class I, G	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002127.3			CDC GDP info	3135	Hs.512152			Tissue Antigens    2007    69(2)    139-144	HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease		142871		CDC	2007												
149072	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms	22	22q12	HMOX1	34107086	34120194		Okamoto, I.  et al. 2006	16596642			promoter	Heme oxygenase (decycling) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002133.1			CDC GDP info	3162	Hs.517581			Int J Cancer    2006	A microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with risk for melanoma		141250		CDC	2006												
149083	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Hara, K.  et al. 2006	16644680			promoter	Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			Diabetes    2006    55(5)    1260-4	Hepatocyte Nuclear Factor-4{alpha} P2 Promoter Haplotypes Are Associated With Type 2 Diabetes in the Japanese Population		600281		CDC	2006												
149091		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Tanahashi, T.  et al. 2006	16955255				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			Hum Genet    2006	Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese		600281		CDC	2006	certain SNPs had a major effect on this promising locus within the framework presented here.											
149095	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q12-q13.1	HNF4A	42417854	42493444		Sale, M. M.  et al. 2007	17601994				Hepatocyte nuclear factor 4, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_178849.			CDC GDP info	3172	Hs.116462			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		600281		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
149116	Y	cholangitis, sclerosing Crohn's disease ulcerative colitis	IMMUNE	IMM	Cholangitis, Sclerosing|Colitis, Ulcerative|Inflammatory Bowel Diseases|Crohn Disease	16	16q22.1	HP	70646008	70652458		Papp, M.  et al. 2006	17087019				Haptoglobin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005143.2			CDC GDP info	3240	Hs.134406			Orv Hetil    2006    147(36)    1745-50	Haptoglobin polymorphism in patients with inflammatory bowel diseases		140100		CDC	2006	haptoglobin-1 allele was associated with Crohn\s disease, whereas the phenotypes with the disease behavior and frequency of primary sclerosing cholangitis, exhibiting a disease-modifying effect.											
149125		Hermansky-Pudlak syndrome	DEVELOPMENTAL	DEV	Albinism, Oculocutaneous|Hermanski-Pudlak Syndrome	3	3q24	HPS3	150330060	150373995			16417222				Hermansky-Pudlak syndrome 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032383			CDC GDP info	84343	Hs.591311			J Invest Dermatol    2006    126(1)    85-90	Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico		606118		CDC	2006												
149133		salt sensitivity	METABOLIC	MET		16	16q22	HSD11B2	66022536	66028955		Alikhani-Koupaei, R.  et al. 2007	17551100			promoter	Hydroxysteroid (11-beta) dehydrogenase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000196.2			CDC GDP info	3291	Hs.1376			FASEB J    2007	Identification of polymorphisms in the human 11beta-hydroxysteroid dehydrogenase type 2 gene promoter		218030		CDC	2007												
149154		prostate cancer	CANCER	CAN	Prostatic Neoplasms	1	1p13.1	HSD3B2	119758792	119790645		Cunningham, J. M.  et al. 2007	17507624				Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR627415			CDC GDP info	3284	Hs.825			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		201810		CDC	2007												
149160	Y	hearing loss, noise-induced	OTHER	OTH	Hearing Loss, Noise-Induced	6	6p21.3	HSPA1A	31891298	31893698		Yang, M.  et al. 2006	17009596				Heat shock 70kDa protein 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005345.4		China	CDC GDP info	3303	Hs.405994			Cell Stress Chaperones    2006    11(3)    233-9	Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers		140550		CDC	2006												
149167		longevity	AGING	AGE		6	6p21.3	HSPA1B	31903502	31906010		Singh, R.  et al. 2006	16804002				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Ann N Y Acad Sci    2006    1067    301-8	Heat-shock protein 70 genes and human longevity		603012		CDC	2006												
149171		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	6	6p21.3	HSPA1B	31903502	31906010		Pae, C. U.  et al. 2007	17428599				heat shock 70kDa protein 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005346.3			CDC GDP info	3304	Hs.274402			Prog Neuropsychopharmacol Biol Psychiatry    2007	Heat-shock protein-70 genes and response to antidepressants in major depression		603012		CDC	2007	genetic variants within the genes coding for HSP-70 family proteins may affect the action of antidepressants and thus their therapeutic efficacy.		antidepressants									
149175		carbamazepine hypersensitivity	PHARMACOGENOMIC	PHARM	Stevens-Johnson Syndrome|Epidermal Necrolysis, Toxic|Exanthema|Drug Hypersensitivity|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814			16538176				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Pharmacogenet Genomics    2006    16(4)    297-306	Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions		140559		CDC	2006												
149180		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	6	6p21.3	HSPA1L	31885374	31890814		Liu, J.  et al. 2007	17582394				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Clin Chim Acta    2007	Effects of polymorphisms of heat shock protein 70 gene on ischemic stroke, and interaction with smoking in China		140559		CDC	2007	HSP70-1+190G/C may affect susceptibility to IS and smoking along with HSP70-1+190G/C may increase the risk of IS.		smoking (tobacco)									
149181	Y	sarcoidosis uveitis	IMMUNE	IMM	Uveitis|Sarcoidosis	6	6p21.3	HSPA1L	31885374	31890814		Spagnolo, P.  et al. 2007	17591867				Heat shock 70kDa protein 1-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005527.2			CDC GDP info	3305	Hs.558337			Invest Ophthalmol Vis Sci    2007    48(7)    3019-25	Association between Heat Shock Protein 70/Hom Genetic Polymorphisms and Uveitis in Patients with Sarcoidosis	rs2075800	140559		CDC	2007	A strong association was found between HSP-70/Hom rs2075800 G and uveitis in patients with sarcoidosis. Further studies are needed to understand the molecular mechanisms underlying this association.											
149185	P		NORMALVARIATION	NV		2		HSPD1	198059552	198073243		Wang, J.  et al. 2006	16978514				Heat shock 60kDa protein 1 (chaperonin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002156.4	Japanese;Chinese;European	China	CDC GDP info	3329	Hs.595053			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(8)    471-4	Polymorphisms of hsp 60 gene in Chinese Han people		118190		CDC	2006	The SNPs of hsp60 in Chinese Han people are different from the other peoples.											
149190		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Comings, D. E.  et al. 2000	11140838				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		109760		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
149194		personality traits suicide	PSYCH	PSY		5	5q11.2-q13	HTR1A	63292033	63293302		Koller, G.  et al. 2006	16504134			promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Behav Brain Funct    2006    2(1)    7	The C(-1019)G 5-HT1A promoter polymorphism and personality traits		109760		CDC	2006												
149199		bipolar disorder depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Depressive Disorder, Major	5	5q11.2-q13	HTR1A	63292033	63293302		Mandelli, L.  et al. 2006	16756688				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Italian		CDC GDP info	3350	Hs.247940			Int J Neuropsychopharmacol    2006        1-11	Interaction between serotonin transporter gene, catechol- O -methyltransferase gene and stressful life events in mood disorders		109760		CDC	2006												
149204		nephritis, lupus	RENAL	REN	Lupus Nephritis|Disease Progression|Genetic Predisposition to Disease	5	5q11.2-q13	HTR1A	63292033	63293302		Birmingham, D. J.  et al. 2006	17009264				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Arthritis Rheum    2006    54(10)    3291-9	Fluctuation in self-perceived stress and increased risk of flare in patients with lupus nephritis carrying the serotonin receptor 1A -1019 G allele		109760		CDC	2006	Fluctuation in the level of SPS is a risk factor for the onset of flare in SLE patients with major renal manifestations when it occurs on the background of a stress-related susceptibility gene (the 5-HT1A -1019 G allele).											
149205		depression	PHARMACOGENOMIC	PHARM	Depressive Disorder|Schizophrenia	5	5q11.2-q13	HTR1A	63292033	63293302		Reynolds, G. P.  et al. 2006	17012696				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2			CDC GDP info	3350	Hs.247940			Am J Psychiatry    2006    163(10)    1826-1829	Effect of 5-HT1A Receptor Gene Polymorphism on Negative and Depressive Symptom Response to Antipsychotic Treatment of Drug-Naive Psychotic Patients		109760		CDC	2006	These findings identify an important genetic factor predicting much of the response in negative and depressive symptoms to antipsychotic drug treatment.		antipsychotic drug									
149210	Y	depression, interferon-induced	PSYCH	PSY	Hepatitis C, Chronic|Genetic Predisposition to Disease	5	5q11.2-q13	HTR1A	63292033	63293302		Kraus, M. R.  et al. 2007	17408646				5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2		Germany	CDC GDP info	3350	Hs.247940			Gastroenterology    2007	Serotonin-1A Receptor Gene HTR1A Variation Predicts Interferon-Induced Depression in Chronic Hepatitis C		109760		CDC	2007	Our findings suggest an impact of allelic variation in 5-HT(1A) receptor expression on the development of interferon alfa-induced depression during antiviral treatment of chronic hepatitis C. Prediction models of interferon-induced depressive symptoms based on HTR1A variation offer a perspective for an antidepressant selective serotonin reuptake inhibitor prophylaxis in patients genetically at risk for interferon-induced depression.											
149213	Y	macular degeneration	VISION	VIS	Macular Degeneration|Genetic Predisposition to Disease	5	5q11.2-q13	HTR1A	63292033	63293302		Yoshida, T.  et al. 2007	17438519			promoter	5-hydroxytryptamine (serotonin) receptor 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000524.2	Japanese;Chinese;Caucasian		CDC GDP info	3350	Hs.247940			Mol Vis    2007    13    545-8	HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration		109760		CDC	2007	The HTRA1 promoter polymorphism, rs11200638, is a strong candidate with a functional consequence that predisposes Japanese to develop neovascular AMD.											
149218		obsessive compulsive disorder	PSYCH	PSY	Chromosome Deletion|Genetic Predisposition to Disease|Obsessive-Compulsive Disorder	6	6q13	HTR1B	78228666	78229839		Denys, D.  et al. 2006	16443280				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			J Affect Disord    2006	Association between serotonergic candidate genes and specific phenotypes of obsessive compulsive disorder		182131		CDC	2006	Our data yields interesting preliminary results as regards the genetic underpinnings of OCD phenotypes that warrant further discussion and investigation.											
149224	N	obsessive compulsive disorder	PSYCH	PSY	Tic Disorders|Tourette Syndrome|Obsessive-Compulsive Disorder	6	6q13	HTR1B	78228666	78229839		Dickel, D. E.  et al. 2007	17241828				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Biol Psychiatry    2007    61(3)    322-9	Association Studies of Serotonin System Candidate Genes in Early-onset Obsessive-Compulsive Disorder		182131		CDC	2007	Low power across individual association studies in OCD may lead to a false acceptance of the null hypothesis.											
149228	N	migraine	PHARMACOGENOMIC	PHARM	Migraine Disorders	6	6q13	HTR1B	78228666	78229839		Mehrotra, S.  et al. 2007	17501853				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			Headache    2007    47(5)    711-6	The Phe-124-Cys and A-161T Variants of the Human 5-HT(1B) Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan		182131		CDC	2007	We have not obtained any evidence that variants F124C and A-161T of the 5-HT(1B) receptor are major determinants in the clinical response to sumatriptan.		sumatriptan									
149230	N	obsessive compulsive disorder	PHARMACOGENOMIC	PHARM	Obsessive-Compulsive Disorder	6	6q13	HTR1B	78228666	78229839		Denys, D.  et al. 2007	17503984				5-hydroxytryptamine (serotonin) receptor 1B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000863.1			CDC GDP info	3351	Hs.123016			J Clin Psychiatry    2007    68(5)    747-53	Prediction of response to paroxetine and venlafaxine by serotonin-related genes in obsessive-compulsive disorder in a randomized, double-blind trial		182131		CDC	2007	The results of this study suggest that response in venlafaxine-treated OCD patients is associated with$$$ the S/L genotype of the 5-HTTLPR polymorphism and in paroxetine-treated OCD patients with the G/G genotype of the 5-HT2A polymorphism.		paroxetine venlafaxine									
149239		suicide	PSYCH	PSY		3	3p12	HTR1F	88114415	88125152		Videtic, A.  et al. 2006	16856120				5-hydroxytryptamine (serotonin) receptor 1F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000866.2			CDC GDP info	3355	Hs.248136			Am J Med Genet B Neuropsychiatr Genet    2006	Association study of seven polymorphisms in four serotonin receptor genes on suicide victims		182134		CDC	2006												
149240		suicide	PSYCH	PSY		3	3p12	HTR1F	88114415	88125152		Videtic, A.  et al. 2006	16964176				5-hydroxytryptamine (serotonin) receptor 1F	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000866.2			CDC GDP info	3355	Hs.248136			Psychiatr Danub    2006    18 Suppl 1    157	Association study of genes involved in serotonergic signaling pathway and suicide completion		182134		CDC	2006												
149244		anorexia nervosa personality traits	PSYCH	PSY	Genetic Predisposition to Disease|Anorexia Nervosa	13	13q14-q21	HTR2A	46305513	46368995		Rybakowski, F.  et al. 2006	16397402				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Neuropsychobiology    2006    53(1)    33-9	The 5-HT2A -1438 A/G and 5-HTTLPR polymorphisms and personality dimensions in adolescent anorexia nervosa		182135		CDC	2006												
149249	Y	depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	13	13q14-q21	HTR2A	46305513	46368995		McMahon, F. J.  et al. 2006	16642436				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Am J Hum Genet    2006    78(5)    804-14	Variation in the Gene Encoding the Serotonin 2A Receptor Is Associated with Outcome of Antidepressant Treatment		182135		CDC	2006			citalopram									
149255	Y	schizophrenia	PSYCH	PSY	Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Vaquero Lorenzo, C.  et al. 2006	16762472				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Spanish;Caucasian	Spain	CDC GDP info	3356	Hs.72630			Prog Neuropsychopharmacol Biol Psychiatry    2006	Association between the T102C polymorphism of the serotonin-2A receptor gene and schizophrenia		182135		CDC	2006												
149256	Y	impulse behavior	PSYCH	PSY	Borderline Personality Disorder	13	13q14-q21	HTR2A	46305513	46368995		Nomura, M.  et al. 2006	16767413	A-1438A polymorphism of the 5-HT(2A)			5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Psychopharmacology (Berl)    2006    187(1)    30-35	Involvement of a polymorphism in the 5-HT2A receptor gene in impulsive behavior		182135		CDC	2006	These results suggest the possible involvement of the A-1438A polymorphism of the 5-HT2A receptor gene in impulsive behavior; this was evaluated using a behavioral task measure that can directly reveal the traits of human impulsive behavior.											
149263		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	13	13q14-q21	HTR2A	46305513	46368995		Guimaraes, A. P.  et al. 2006	16958038				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Brazilian		CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2006	Serotonin genes and attention deficit/hyperactivity disorder in a Brazilian sample		182135		CDC	2006												
149269	Y	schizophrenia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Gunes, A.  et al. 2006	17102980				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Psychopharmacology (Berl)    2006	Serotonin and dopamine receptor gene polymorphisms and the risk of extrapyramidal side effects in perphenazine-treated schizophrenic patients		182135		CDC	2006	An association was observed between polymorphisms in HTR2A and HTR2C genes and occurrence of acute EPS in schizophrenic patients treated with perphenazine monotherapy.		perphenazine									
149274	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Golimbet, V. E.  et al. 2007	17240119				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630			Eur Psychiatry    2007	Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophrenia		182135		CDC	2007	our replication study provides further evidence for association between the 5-HTR2A receptor T102C polymorphism and schizophrenia.											
149278		Autism	PSYCH	PSY	Autistic Disorder	13	13q14-q21	HTR2A	46305513	46368995		Cross, S.  et al. 2007	17406648				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2			CDC GDP info	3356	Hs.72630	5-hydroxytryptamine		Neuropsychopharmacology    2007	Molecular Genetics of the Platelet Serotonin System in First-Degree Relatives of Patients with Autism		182135		CDC	2007												
149280		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q14-q21	HTR2A	46305513	46368995		Bertola, V.  et al. 2007	17420819				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Brazilian		CDC GDP info	3356	Hs.72630			Arq Neuropsiquiatr    2007    65(1)    11-14	Association analysis between the C516T polymorphism in the 5-HT2A receptor gene and schizophrenia		182135		CDC	2007												
149286		depression	PSYCH	PSY	Depressive Disorder	13	13q14-q21	HTR2A	46305513	46368995		Jokela, M.  et al. 2007	17510953				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Finnish		CDC GDP info	3356	Hs.72630			Am J Med Genet B Neuropsychiatr Genet    2007	The influence of urban/rural residency on depressive symptoms is moderated by the serotonin receptor 2A gene		182135		CDC	2007			residency									
149290		personality traits	PSYCH	PSY	Mental Disorders|Personality Disorders	13	13q14-q21	HTR2A	46305513	46368995		Serretti, A.  et al. 2007	17590256				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	German;Italian		CDC GDP info	3356	Hs.72630			Prog Neuropsychopharmacol Biol Psychiatry    2007	5-HT(2A) SNPs and the Temperament and Character Inventory		182135		CDC	2007												
149299		smoking behavior	CHEMDEPENDENCY	CHEM		X	Xq24	HTR2C	113724806	114050880		Lerer, E.  et al. 2006	16770336				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1	Israeli	Israel	CDC GDP info	3358	Hs.149037			Mol Psychiatry    2006    11(8)    771-81	Why do young women smoke? II. Role of traumatic life experience, psychological characteristics and serotonergic genes		312861		CDC	2006												
149304	Y	schizophrenia	PHARMACOGENOMIC	PHARM	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	X	Xq24	HTR2C	113724806	114050880		Gunes, A.  et al. 2006	17102980				5-hydroxytryptamine (serotonin) receptor 2C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000868.1			CDC GDP info	3358	Hs.149037			Psychopharmacology (Berl)    2006	Serotonin and dopamine receptor gene polymorphisms and the risk of extrapyramidal side effects in perphenazine-treated schizophrenic patients		312861		CDC	2006	An association was observed between polymorphisms in HTR2A and HTR2C genes and occurrence of acute EPS in schizophrenic patients treated with perphenazine monotherapy.		perphenazine									
149309		nausea	PHARMACOGENOMIC	PHARM	Genetic Predisposition to Disease|Nausea|Mental Disorders	11	11q23.1	HTR3A	113351119	113366244			16534507				5-hydroxytryptamine (serotonin) receptor 3A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_213621.1			CDC GDP info	3359	Hs.413899			Pharmacogenomics J    2006	The effect of 5-hydroxytryptamine 3A and 3B receptor genes on nausea induced by paroxetine		182139		CDC	2006			paroxetine									
149312	Y	depressive disorder, major	PSYCH	PSY	Mood Disorders|Depressive Disorder, Major|Schizophrenia	11	11q23.1	HTR3B	113280798	113322493		Yamada, K.  et al. 2006	16487942				5-hydroxytryptamine (serotonin) receptor 3B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006028.3	Japanese;Caucasian;European	Japan	CDC GDP info	9177	Hs.241377			Biol Psychiatry    2006	Distinguishable Haplotype Blocks in the HTR3A and HTR3B Region in the Japanese Reveal Evidence of Association of HTR3B with Female Major Depression		604654		CDC	2006	Our results suggest an important role for HTR3B in major depression in women and also raise the possibility that previously proposed disease-associated SNPs in the HTR3A/B region in Caucasians are in linkage disequilibrium with haplotype block 2 of HTR3B in the Japanese.											
149317	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	7	7q36.1	HTR5A	154493478	154508392		Li, J.  et al. 2006	16701945				5-hydroxytryptamine (serotonin) receptor 5A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024012.2			CDC GDP info	3361	Hs.65791			Neurosci Lett    2006	No association of attention-deficit/hyperactivity disorder with genes of the serotonergic pathway in Han Chinese subjects		601305		CDC	2006												
149322		personality traits	PSYCH	PSY		1	1p36-p35	HTR6	19864366	19878642		Tochigi, M.  et al. 2006	16682118				5-hydroxytryptamine (serotonin) receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000871.1			CDC GDP info	3362	Hs.22180			Neurosci Lett    2006	No association of 5-HT(2C), 5-HT(6), and tryptophan hydroxylase-1 gene polymorphisms with personality traits in the Japanese population		601109		CDC	2006												
149356	Y	bone density	METABOLIC	MET	Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM1	10242778	10258291		Yamada, Y.  et al. 2007	17390085				Intercellular adhesion molecule 1 (CD54), human rhinovirus receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000201.1			CDC GDP info	3383	Hs.643447			Int J Mol Med    2007    19(5)    791-801	Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men		147840		CDC	2007												
149385	N	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	12	12q14	IFNG	66834816	66839788			16403098				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147570		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149389	Y	multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	12	12q14	IFNG	66834816	66839788		Martinez, A.  et al. 2006	16430971				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Neuroimmunol    2006	An IFNG polymorphism is associated with interferon-beta response in Spanish MS patients		147570		CDC	2006			interferon									
149417		hepatitis B	INFECTION	INF	Hepatitis B	12	12q14	IFNG	66834816	66839788		Cheong, J. Y.  et al. 2006	16944293				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Korean		CDC GDP info	3458	Hs.856			Biochem Genet    2006    44(5-6)    246-55	Genetic polymorphism of interferon-gamma, interferon-gamma receptor, and interferon regulatory factor-1 genes in patients with hepatitis B virus infection		147570		CDC	2006												
149422	N	brucellosis	INFECTION	INF	Brucellosis	12	12q14	IFNG	66834816	66839788		Davoudi, S.  et al. 2006	16984280				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			Int J Immunogenet    2006    33(5)    355-359	Th-1 cytokines gene polymorphism in human brucellosis		147570		CDC	2006												
149430		measles vaccine immunity	IMMUNE	IMM		12	12q14	IFNG	66834816	66839788		Dhiman, N.  et al. 2007	17152005				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		147570		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149438			NORMALVARIATION	NV		12	12q14	IFNG	66834816	66839788		Kaur, G.  et al. 2007	17257312				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Indian		CDC GDP info	3458	Hs.856			Tissue Antigens    2007    69(2)    113-20	Frequency distribution of cytokine gene polymorphisms in the healthy North Indian population		147570		CDC	2007												
149457	N	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Rueda, B.  et al. 2007	17552041			promoter	Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2			CDC GDP info	3458	Hs.856			J Rheumatol    2007	Influence of Interleukin 10 Promoter Polymorphisms in Susceptibility to Giant Cell Arteritis in Northwestern Spain		147570		CDC	2007	 Our results suggest a potential implication of IL-10 -1082 promoter polymorphism in susceptibility to GCA in Northwestern Spain.											
149462	Y	HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	6	6q23-q24	IFNGR1	137560314	137582200		Do, H.  et al. 2006	16491350				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Caucasian		CDC GDP info	3459	Hs.520414			Immunogenetics    2006	Associations of the IL2Ralpha, IL4Ralpha, IL10Ralpha, and IFN (gamma) R1 cytokine receptor genes with AIDS progression in a French AIDS cohort		107470		CDC	2006												
149467		lung disease, mycobacteria	INFECTION	INF	Mycobacterium Infections, Atypical|Mycobacterium avium-intracellulare Infection|Lung Diseases|Genetic Predisposition to Disease	6	6q23-q24	IFNGR1	137560314	137582200		Hye Hwang, J.  et al. 2006	17023216				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1	Korean		CDC GDP info	3459	Hs.520414			Tuberculosis (Edinb)    2006	Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and non-tuberculous mycobacterial lung diseases		107470		CDC	2006												
149471		hepatitis C	INFECTION	INF	Hepatitis C|Liver Cirrhosis	6	6q23-q24	IFNGR1	137560314	137582200		Falleti, E.  et al. 2007	17348823				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			J Interferon Cytokine Res    2007    27(3)    239-46	Genetic polymorphisms of inflammatory cytokines and liver fibrosis progression due to recurrent hepatitis C		107470		CDC	2007	cytokine SNPs resulting in high and low producer phenotypes of both Th1 and Th2 cytokines appear to modulate the course of recurrent hepatitis C.											
149474		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	6	6q23-q24	IFNGR1	137560314	137582200		Ali, S.  et al. 2007	17477815				Interferon gamma receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000416.1			CDC GDP info	3459	Hs.520414			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		107470		CDC	2007												
149478		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	21	21q22.11	IFNGR2	33679168	33731696		Guglielmi, L.  et al. 2006	16867043			promoter	Interferon gamma receptor 2 (interferon gamma transducer 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005534.2			CDC GDP info	3460	Hs.517240			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		147569		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
149486		breast cancer	CANCER	CAN	Breast Neoplasms	12	12q22-q23	IGF1	101313805	101398454			16404426				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2	Caucasian;European		CDC GDP info	3479	Hs.160562			Br J Cancer    2006	Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk		147440		CDC	2006												
149500		muscle testing	NORMALVARIATION	NV	Muscular Diseases|Pain|Genetic Predisposition to Disease	12	12q22-q23	IGF1	101313805	101398454		Devaney, J. M.  et al. 2007	17289909				Insulin-like growth factor 1 (somatomedin C)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000618.2			CDC GDP info	3479	Hs.160562			J Appl Physiol    2007	IGF-II Gene Region Polymorphisms Related to Exertional Muscle Damage		147440		CDC	2007			physical activity									
149511	N	breast cancer	CANCER	CAN	Breast Neoplasms	15	15q26.3	IGF1R	97010283	97325282		Deming, S. L.  et al. 2006	17063263				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDP info	3480	Hs.592020			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women		147370		CDC	2006	no significant association was noted between any of the 19 polymorphisms and survival.		menopause									
149512		prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q26.3	IGF1R	97010283	97325282		Chen, C.  et al. 2006	17164371				Insulin-like growth factor 1 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000875.2			CDC GDP info	3480	Hs.592020			Cancer Epidemiol Biomarkers Prev    2006    15(12)    2461-6	Prostate Cancer Risk in Relation to Selected Genetic Polymorphisms in Insulin-like Growth Factor-I, Insulin-like Growth Factor Binding Protein-3, and Insulin-like Growth Factor-I Receptor		147370		CDC	2006												
149527		height	DEVELOPMENTAL	DEV		16	16p13.3	IGFALS	1780419	1783710		Lettre, G.  et al. 2007	17546465				Insulin-like growth factor binding protein, acid labile subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC025681			CDC GDP info	3483	Hs.839			Hum Genet    2007	Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation		601489		CDC	2007												
149529		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP1	45894483	45899792			16404426				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596	Caucasian;European		CDC GDP info	3484	Hs.642938			Br J Cancer    2006	Polymorphisms of genes coding for insulin-like growth factor 1 and its major binding proteins, circulating levels of IGF-I and IGFBP-3 and breast cancer risk		146730		CDC	2006												
149533		insulin-like growth factor	METABOLIC	MET		7	7p13-p12	IGFBP1	45894483	45899792		Cheng, I.  et al. 2007	17566087				Insulin-like growth factor binding protein 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000596			CDC GDP info	3484	Hs.642938			J Clin Endocrinol Metab    2007	Genetic Determinants of Circulating IGF-I, IGFBP-1 and IGFBP-3 Levels in a Multiethnic Population		146730		CDC	2007	In summary, our study suggests that common genetic variation in IGFBP3 influences circulating levels of IGFBP-3 among African-Americans, Native Hawaiians, Japanese-Americans, Latinos, and Whites.											
149538		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	7	7p13-p12	IGFBP3	45918368	45927396		Breast Cancer Association, = Consortium  et al. 2006	17018785				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			J Natl Cancer Inst    2006    98(19)    1382-96	Commonly studied single-nucleotide polymorphisms and breast cancer		146732		CDC	2006	Pooling data within a large consortium has helped to clarify associations of SNPs with breast cancer.											
149541		breast cancer	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Slattery, M. L.  et al. 2006	17051426				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1	non-Hispanic		CDC GDP info	3486	Hs.450230			Breast Cancer Res Treat    2006	Genetic variation in IGF1, IGFBP3, IRS1, IRS2 and risk of breast cancer in women living in Southwestern United States		146732		CDC	2006	Our data suggest that associations between insulin-related genes and breast cancer risk among women living in the Southwestern United States may be dependent on estrogen exposure and may differ by ethnicity.		body mass hormone replacement therapy									
149545	N	mamographic density	CANCER	CAN	Breast Neoplasms	7	7p13-p12	IGFBP3	45918368	45927396		Tamimi, R. M.  et al. 2007	17300730				Insulin-like growth factor binding protein 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001013398.1			CDC GDP info	3486	Hs.450230			Breast Cancer Res    2007    9(1)    R18	Common genetic variation in IGF1, IGFBP-1, and IGFBP-3 in relation to mammographic density		146732		CDC	2007	Common genetic variation in IGF1 is strongly associated with percentage mammographic density.											
149563	Y	aging	AGING	AGE		1	1q31-q32	IL10	205007570	205012462			16424284			promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		124092		CDC	2005												
149570		celiac disease	IMMUNE	IMM	Celiac Disease	1	1q31-q32	IL10	205007570	205012462			16540751				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2		Italy	CDC GDP info	3586	Hs.193717			Genet Med    2006    8(3)    169-174	IL-10 polymorphisms are associated with early-onset celiac disease and severe mucosal damage in patients of Caucasian origin		124092		CDC	2006	The association between IL-10 genotypes and both histological severity at diagnosis and age of onset could be related to an alteration in cytokine balance, and supports the idea that the various clinical manifestations of the disease could be determined by a different genetic background.											
149576	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Michaud, D. S.  et al. 2006	16618781				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Cancer Res    2006    66(8)    4525-30	Genetic Polymorphisms of Interleukin-1B (IL-1B), IL-6, IL-8, and IL-10 and Risk of Prostate Cancer		124092		CDC	2006	no associations were detected between the seven polymorphisms in the four cytokine genes examined in this study and prostate cancer risk.											
149581	Y	hematopoietic stem cell transplantation	HEMATOLOGICAL	HEM		1	1q31-q32	IL10	205007570	205012462		Bettens, F.  et al. 2006	16699452				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Transplantation    2006    81(9)    1261-1267	Association of TNFd and IL-10 Polymorphisms with Mortality in Unrelated Hematopoietic Stem Cell Transplantation		124092		CDC	2006	The data demonstrate a significant correlation of the TNFd and IL-10-1064 microsatellite polymorphisms with mortality after unrelated HSCT. They support the hypothesis that simple genomic tests, in addition to precise HLA matching, may contribute to determine prognosis in patients undergoing unrelated HSCT.											
149588			NORMALVARIATION	NV		1	1q31-q32	IL10	205007570	205012462		Bagheri, M.  et al. 2006	16764598				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Iranian;Asian	Iran	CDC GDP info	3586	Hs.193717			Transfus Med    2006    16(3)    192-9	Heterogeneity of cytokine single-nucleotide polymorphisms among the Iranian and in the other East-South Asian populations		124092		CDC	2006												
149592	N	H. pylori infection	PHARMACOGENOMIC	PHARM	Gastritis|Stomach Ulcer	1	1q31-q32	IL10	205007570	205012462		Sugimoto, M.  et al. 2006	16815316				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Clin Pharmacol Ther    2006    80(1)    41-50	Influences of proinflammatory and anti-inflammatory cytokine polymorphisms on eradication rates of clarithromycin-sensitive strains of Helicobacter pylori by triple therapy		124092		CDC	2006	IL1B -511 polymorphism, but not IL1RN, TNFA, or IL10 polymorphism, is one of the determinants of triple therapy for clarithromycin-sensitive strains of H pylori in CYP2C19 homozygous EMs.		amoxycillin clarithromycin lansoprazole omeprazole rabeprazole									
149602	Y	tuberculosis	INFECTION	INF	Tuberculosis	1	1q31-q32	IL10	205007570	205012462		Oral, H. B.  et al. 2006	16962335				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Turkish		CDC GDP info	3586	Hs.193717			Cytokine    2006	Interleukin-10 (IL-10) gene polymorphism as a potential host susceptibility factor in tuberculosis		124092		CDC	2006												
149605		anticardiolipin antibody production lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Hirankarn, N.  et al. 2006	17092253				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	Thai		CDC GDP info	3586	Hs.193717			Tissue Antigens    2006    68(5)    399-406	The synergistic effect of FC gamma receptor IIa and interleukin-10 genes on the risk to develop systemic lupus erythematosus in Thai population		124092		CDC	2006												
149610	Y	preterm delivery	REPRODUCTION	REP	Pregnancy Complications, Infectious|Fetal Membranes, Premature Rupture|Obstetric Labor, Premature	1	1q31-q32	IL10	205007570	205012462		Speer, E. M.  et al. 2006	17145371				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Hum Immunol    2006    67(11)    915-23	Role of single nucleotide polymorphisms of cytokine genes in spontaneous preterm delivery		124092		CDC	2006												
149628		bone marrow transplantation	IMMUNE	IMM	Bone Marrow Diseases	1	1q31-q32	IL10	205007570	205012462		Gidvani, V.  et al. 2007	17373677				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Am J Hematol    2007	Cytokine gene polymorphisms in acquired bone marrow failure		124092		CDC	2007												
149632	Y	tuberculosis tumor necrosis factor-alpha	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Stein, C. M.  et al. 2007	17431682				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Hum Genet    2007	Linkage and association analysis of candidate genes for TB and TNFalpha cytokine expression		124092		CDC	2007												
149645	Y	giant cell arteritis	CARDIOVASCULAR	CARD	Giant Cell Arteritis|Giant Cell Arteritis|Genetic Predisposition to Disease	1	1q31-q32	IL10	205007570	205012462		Rueda, B.  et al. 2007	17552041	IL-10 -1082		promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			J Rheumatol    2007	Influence of Interleukin 10 Promoter Polymorphisms in Susceptibility to Giant Cell Arteritis in Northwestern Spain		124092		CDC	2007	 Our results suggest a potential implication of IL-10 -1082 promoter polymorphism in susceptibility to GCA in Northwestern Spain.											
149649	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	1	1q31-q32	IL10	205007570	205012462		Ribeiro, C. S.  et al. 2007	17612762				Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2			CDC GDP info	3586	Hs.193717			Mem Inst Oswaldo Cruz    2007    102(4)    435-40	Association of cytokine genetic polymorphism with hepatites B infection evolution in adult patients		124092		CDC	2007												
149653		lymphoma	CANCER	CAN	Lymphoma|Genetic Predisposition to Disease	11	11q23	IL10RA	117362318	117377404		Nieters, A.  et al. 2006	16971956				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2		Germany	CDC GDP info	3587	Hs.504035			Genes Immun    2006	Gene polymorphisms in Toll-like receptors, interleukin-10, and interleukin-10 receptor alpha and lymphoma risk		146933		CDC	2006	this study suggests an effect of polymorphisms in factors of the innate immune response in the aetiology of some lymphoma subtypes.											
149656		measles vaccine immunity	IMMUNE	IMM		11	11q23	IL10RA	117362318	117377404		Dhiman, N.  et al. 2007	17152005				Interleukin 10 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001558.2			CDC GDP info	3587	Hs.504035			J Infect Dis    2007    195(1)    21-9	Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes		146933		CDC	2007	Specific SNPs in the cytokine and cytokine receptor genes are significantly associated with variations in measures of the immune response to measles vaccination.											
149686		multiple sclerosis	PHARMACOGENOMIC	PHARM	Multiple Sclerosis	5	5q31.1-q33.1	IL12B	158674368	158690059			17172248				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Zh Nevrol Psikhiatr Im S S Korsakova    2006    Spec No 3    130-5	The 1188 A/C ILI2B gene polymorphism in patients with multiple sclerosis and in healthy subjects of Tomsk region		161561		CDC	2006			copaxone									
149695	Y	psoriasis	IMMUNE	IMM		5	5q31.1-q33.1	IL12B	158674368	158690059		Capon, F.  et al. 2007	17587057				Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002187.2			CDC GDP info	3593	Hs.674			Hum Genet    2007	Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis		161561		CDC	2007												
149697	Y	leiomyoma	CANCER	CAN	Leiomyoma|Uterine Neoplasms|Genetic Predisposition to Disease	19	19p13.1	IL12RB1	18031370	18070626		Hsieh, Y. Y.  et al. 2007	17222831	codon 378 *G homozygote and G allele		promoter	interleukin 12 receptor, beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005535.1			CDC GDP info	3594	Hs.567294			Fertil Steril    2007	Interleukin (IL)-12 receptor beta1 codon 378 G homozygote and allele, but not IL-1 (beta-511 promoter, 3953 exon 5, receptor antagonist), IL-2 114, IL-4-590 intron 3, IL-8 3'-UTR 2767, and IL-18 105, are associated with higher susceptibility to leiomyoma		601604		CDC	2007	The IL-12Rbeta1 codon 378 *G homozygote and G allele are related to a higher susceptibility to leiomyoma. The IL-1beta-511 promoter, IL-1beta exon 5, and IL-1Ra, IL-2 114, IL-4 -590 intron 3, IL-8 3\-UTR 2767, and IL-18 105 gene polymorphisms are not correlated with the development of leiomyoma.											
149708	Y	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Brown, E. E.  et al. 2006	16702372				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Italian	Italy	CDC GDP info	3596	Hs.845			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		147683		CDC	2006												
149711		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Guglielmi, L.  et al. 2006	16867043			promoter	Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		147683		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
149715	Y	asthma	IMMUNE	IMM	Asthma|Respiratory Hypersensitivity|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Kim, H. B.  et al. 2006	17006604				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2	Korean		CDC GDP info	3596	Hs.845			J Hum Genet    2006	Gene-gene interaction between IL-13 and IL-13Ralpha1 is associated with total IgE in Korean children with atopic asthma		147683		CDC	2006				IL13		IL13RA1						
149719	N	allergy	IMMUNE	IMM	Respiratory Hypersensitivity	5	5q31	IL13	132021763	132024700		Kim, H. A.  et al. 2006	17209513				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			J UOEH    2006    28(4)    369-79	No potential role of genetic polymorphisms for IL-4, IL-13 and IL-4 receptor in respiratory allergy		147683		CDC	2006												
149723	Y	asthma bronchodilator response IgE lung function	IMMUNE	IMM	Asthma	5	5q31	IL13	132021763	132024700		Battle, N. C.  et al. 2007	17303794				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Am J Respir Crit Care Med    2007	Ethnic Specific Gene-Gene Interaction between IL-13 and IL-4R{alpha} Among African American Asthmatics		147683		CDC	2007	Gene-gene interaction between the IL-13 and IL-4Ralpha genes may play an important role in asthma among African Americans.			IL-13		IL-4R						
149730		brain cancer IgE	CANCER	CAN	Glioma|Brain Neoplasms|Hypersensitivity|Genetic Predisposition to Disease	5	5q31	IL13	132021763	132024700		Wiemels, J. L.  et al. 2007	17548690				Interleukin 13	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002188.2			CDC GDP info	3596	Hs.845			Cancer Epidemiol Biomarkers Prev    2007    16(6)    1229-35	Allergy-Related Polymorphisms Influence Glioma Status and Serum IgE Levels		147683		CDC	2007												
149735	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	X	Xq13.1-q28	IL13RA2	114144793	114158463		Granel, B.  et al. 2006	16981293				Interleukin 13 receptor, alpha 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U70981	Caucasian		CDC GDP info	3598	Hs.336046			J Rheumatol    2006	IL13RA2 Gene Polymorphisms Are Associated with Systemic Sclerosis		300130		CDC	2006	Our data suggest that IL13RA2 gene polymorphisms may be involved in susceptibility to SSc.											
149740	Y	asthma	IMMUNE	IMM		15	15q26.3	IL16	79262254	79392157		Hosseini-Farahabadi, S.  et al. 2007	17303923			promoter	Interleukin 16 (lymphocyte chemoattractant factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004513.3	Iranian		CDC GDP info	3603	Hs.459095			Iran J Allergy Asthma Immunol    2007    6(1)    9-14	Association between the Polymorphisms of IL-4 Gene Promoter (-590C>T), IL-13 Coding Region (R130Q) and IL-16 Gene Promoter (-295T>C) and Allergic Asthma		603035		CDC	2007												
149743	N	Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050			16273766				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2	Korean		CDC GDP info	3606	Hs.83077			Clin Exp Rheumatol    2005    23(4 Suppl 38)    S59-63	Interleukin-18 gene polymorphisms in Korean patients with Behcet's disease		600953		CDC	2005												
149745	N	aging	AGING	AGE		11	11q22.2-q22.3	IL18	111519185	111540050			16424284			promoter	Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			J Gerontol A Biol Sci Med Sci    2005    60(12)    1525-9	Association of interleukin-10 promoter single nucleotide polymorphisms -819 t/c and -592 a/c with aging		600953		CDC	2005												
149753		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Precancerous Conditions|Metaplasia	11	11q22.2-q22.3	IL18	111519185	111540050		Leung, W. K.  et al. 2006	16635219				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Am J Gastroenterol    2006    101(4)    714-20	H. pylori genotypes and cytokine gene polymorphisms influence the development of gastric intestinal metaplasia in a Chinese population		600953		CDC	2006	The carriage of proinflammatory IL-1B-511 and HP vacA m1 genotypes was associated with the development of gastric IM in the Chinese.		Helicobacter pylori									
149759		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pneumoconiosis	11	11q22.2-q22.3	IL18	111519185	111540050		Nadif, R.  et al. 2006	16971411				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Eur Respir J    2006	IL18 and IL18R1 polymorphisms, lung HRCT and fibrosis		600953		CDC	2006			dust smoking (tobacco)									
149768	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	11	11q22.2-q22.3	IL18	111519185	111540050		Lee, C. C.  et al. 2007	17396252				Interleukin 18 (interferon-gamma-inducing factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001562.2			CDC GDP info	3606	Hs.83077			Immunogenetics    2007	Interleukin-18 gene polymorphism, but not interleukin-2 gene polymorphism, is associated with rheumatoid arthritis		600953		CDC	2007												
149779		stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Inflammation	2	2q14	IL1A	113247962	113259442		Kamangar, F.  et al. 2006	16411061				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3	Finnish	Finland	CDC GDP info	3552	Hs.1722			Cancer Causes Control    2006    17(1)    117-25	Polymorphisms in inflammation-related genes and risk of gastric cancer (Finland)		147760		CDC	2006												
149784	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease|Inflammation	2	2q14	IL1A	113247962	113259442		Sanchez, E.  et al. 2006	16719905				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			BMC Med Genet    2006    7(1)    48	Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus		147760		CDC	2006	These results suggest that the tested functional variation of RANTES, IL-8, IL-1alpha, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.											
149791		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Licastro, F.  et al. 2006	16930778				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		147760		CDC	2006												
149806		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	2	2q14	IL1A	113247962	113259442		Virtanen, I. M.  et al. 2007	17471097				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		147760		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
149814	Y	bullous pemphigoid	IMMUNE	IMM	Pemphigoid, Bullous	2	2q14	IL1B	113303807	113310827			16403098	IL-1beta (-511) and (-31)			Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Br J Dermatol    2006    154(1)    79-84	Cytokine gene polymorphisms in bullous pemphigoid in a Chinese population		147720		CDC	2006	The IL-1beta (-511) and (-31) polymorphisms were significantly associated with BP in women. The other genetic polymorphisms of cytokine genes that we analysed do not appear to be associated with BP susceptibility in our Chinese population.											
149818	N	breast cancer	CANCER	CAN		2	2q14	IL1B	113303807	113310827		Snoussi, K.  et al. 2005	16464738				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2	Tunisian		CDC GDP info	3553	Hs.126256			Eur Cytokine Netw    2005    16(4)    253-260	Genetic variation in pro-inflammatory cytokines (interleukin-1beta, interleukin-1alpha and interleukin-6) associated with the aggressive forms, survival, and relapse prediction of breast carcinoma.		147720		CDC	2005	The polymorphisms in the promoter region of the IL-6 gene may represent a marker for the increased risk of breast carcinoma. Genetic variations in IL-1alpha, IL-1beta and IL-6 may predict the clinical outcome of breast carcinoma.											
149872		periodontal disease	IMMUNE	IMM	Abscess|Periapical Periodontitis|Tooth Diseases|Genetic Predisposition to Disease	2	2q14	IL1B	113303807	113310827		de Sa, A. R.  et al. 2007	17511783				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Int Endod J    2007	Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses		147720		CDC	2007	The present study suggests that genetic factors are associated with susceptibility to develop symptomatic dental abscesses.											
149875	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	2	2q13	IL1F10	113542017	113549898		Chou, C. T.  et al. 2006	16361275				Interleukin 1 family, member 10 (theta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032556		Taiwan	CDC GDP info	84639	Hs.306974			Ann Rheum Dis    2006    65(8)    1106-9	Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese				CDC	2006	The IL1 gene cluster is associated with AS in Taiwanese Chinese.											
149890	Y	ankylosing spondylitis	IMMUNE	IMM	Spondylitis, Ankylosing	2	2q14.2	IL1RN	113573407	113608064		Chou, C. T.  et al. 2006	16361275				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1		Taiwan	CDC GDP info	3557	Hs.81134			Ann Rheum Dis    2006    65(8)    1106-9	Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese		147679		CDC	2006	The IL1 gene cluster is associated with AS in Taiwanese Chinese.											
149896	N	polycystic ovary syndrome	METABOLIC	MET	Polycystic Ovary Syndrome	2	2q14.2	IL1RN	113573407	113608064		Kolbus, A.  et al. 2006	16595248				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Fertil Steril    2006    85(2)    523-5	A polymorphism of the interleukin 1 receptor antagonist is not associated with polycystic ovary syndrome in Caucasian women		147679		CDC	2006												
149929		infection, postoperative	INFECTION	INF	Bacterial Infections|Esophageal Neoplasms|Postoperative Complications	2	2q14.2	IL1RN	113573407	113608064		Azim, K.  et al. 2007	17592300				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1			CDC GDP info	3557	Hs.81134			Ann Surg    2007    246(1)    122-128	Genetic Polymorphisms and the Risk of Infection Following Esophagectomy. Positive Association with TNF-alpha Gene -308 Genotype		147679		CDC	2007	BACKGROUND DATA: Genetic polymorphisms for immunoregulatory cytokines may explain individual variation in response to trauma.											
149942		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	4	4q26-q27	IL2	123592075	123597100		Basturk, B.  et al. 2006	16938461				Interleukin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000586.2			CDC GDP info	3558	Hs.89679			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147680		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
149963	Y	psoriasis	IMMUNE	IMM	Psoriasis|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Cargill, M.  et al. 2007	17236132				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Am J Hum Genet    2007    80(2)    273-390	A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes		607562		CDC	2007												
149966		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Rioux, J. D.  et al. 2007	17435756				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701			CDC GDP info	149233	Hs.677426			Nat Genet    2007	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis		607562		CDC	2007												
149970		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	1	1p31.3	IL23R	67404756	67498238		Yamazaki, K.  et al. 2007	17534574				Interleukin 23 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_144701	Japanese;Caucasian		CDC GDP info	149233	Hs.677426			J Hum Genet    2007	Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients		607562		CDC	2007												
149973	Y	palmoplanta pustulosis	OTHER	OTH	Psoriasis|Genetic Predisposition to Disease	1	1q32	IL24	205137411	205144107		Kingo, K.  et al. 2007	17263806				Interleukin 24	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006850.2			CDC GDP info	11009	Hs.58831			Br J Dermatol    2007	Association analysis of IL19, IL20 and IL24 genes in palmoplantar pustulosis		604136		CDC	2007	This exploratory study supports the hypothesis that variations of genes of the IL-19 subfamily of cytokines influence susceptibility to PPP. However, due to the limited size of the study samples, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.											
149976		allergic rhinitis	IMMUNE	IMM	Rhinitis, Allergic, Perennial|Rhinitis, Allergic, Seasonal|Genetic Predisposition to Disease	1	1p36.11	IL28RA	24353233	24386338		Chae, S. C.  et al. 2006	16819289				Interleukin 28 receptor, alpha (interferon, lambda receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170743	Chinese;Korean		CDC GDP info	163702	Hs.221375			Exp Mol Med    2006    38(3)    302-309	Analysis of the variations in IL-28RA gene and their association with allergic rhinitis		607404		CDC	2006												
149983	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	22	22q13	IL2RB	35851825	35875908		Wu, H. C.  et al. 2006	17115417				Interleukin 2 receptor, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000878.2		Taiwan	CDC GDP info	3560	Hs.474787			J Clin Lab Anal    2006    20(6)    245-9	IL-2 gene C/T polymorphism is associated with prostate cancer		146710		CDC	2006												
149986	N	asthma atopy	IMMUNE	IMM	Asthma|Bronchial Hyperreactivity|Rhinitis, Allergic, Seasonal|Hypersensitivity, Immediate	5	5q31.1	IL3	131424245	131426795		Kabesch, M.  et al. 2007	17362254				Interleukin 3 (colony-stimulating factor, multiple)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000588.3	German	Germany	CDC GDP info	3562	Hs.694			Allergy    2007    62(4)    423-8	Polymorphisms in eosinophil pathway genes, asthma and atopy		147740		CDC	2007	IL-5 C-746T influenced atopic outcomes and showed evidence for gene by gene interaction. No significant associations were found with all other tested polymorphisms in the eosinophil regulation pathway after correction for multiple testing.											
149991	Y	HIV	INFECTION	INF	HIV Infections|Disease Progression|Genetic Predisposition to Disease	5	5q31.1	IL4	132037271	132046267		Wichukchinda, N.  et al. 2006	16511411	IL4-589T			Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			AIDS    2006    20(2)    189-196	Protective Effects of IL4-589T and RANTES-28G on HIV-1 disease progression in infected Thai females		147780		CDC	2006	Our results implicate the significant protective effect of IL4-589T and RANTES-28G on HIV disease progression in Thais. In contrast, RANTES In1.1C without RANTES-28G had an accelerating effect on HIV disease progression.											
150007		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Disease Progression	5	5q31.1	IL4	132037271	132046267		Basturk, B.  et al. 2006	16938461				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Cytokine    2006	Cytokine gene polymorphisms can alter the effect of Bacillus Calmette-Guerin (BCG) immunotherapy		147780		CDC	2006			Bacillus Calmette-Guerin immunotherapy									
150010		eczema food allergy IgE	IMMUNE	IMM	Liver Diseases|Dermatitis, Atopic|Food Hypersensitivity	5	5q31.1	IL4	132037271	132046267		Negoro, T.  et al. 2006	17121586				Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2			CDC GDP info	3565	Hs.73917			Pediatr Allergy Immunol    2006    17(8)    583-90	Influence of SNPs in cytokine-related genes on the severity of food allergy and atopic eczema in children		147780		CDC	2006												
150029		hepatitis C	INFECTION	INF	Hepatitis C	5	5q31.1	IL4	132037271	132046267			17523428			promoter	Interleukin 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000589.2	Caucasian		CDC GDP info	3565	Hs.73917			Zh Mikrobiol Epidemiol Immunobiol    2007    1    43-6	Alleles distribution of polymorphic promoter region C-590T in interleukin-4 genes and Q-576r and Ile-50Val regions in IL-4 receptor gene IL-4RA in patients with HCV-infection		147780		CDC	2007												
150036		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Brassat, D.  et al. 2006	16625214				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Genes Immun    2006	Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans		147781		CDC	2006												
150044		vaccine response	IMMUNE	IMM		16	16p11.2-12.1	IL4R	27232751	27283600		Wiertsema, S. P.  et al. 2006	16914241				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Vaccine    2006	Impact of genetic variants in IL-4, IL-4 RA and IL-13 on the anti-pneumococcal antibody response		147781		CDC	2006	This study highlights the importance of host genetic factors in vaccine responses.											
150061	Y	asthma bronchodilator response IgE lung function	IMMUNE	IMM	Asthma	16	16p11.2-12.1	IL4R	27232751	27283600		Battle, N. C.  et al. 2007	17303794				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			Am J Respir Crit Care Med    2007	Ethnic Specific Gene-Gene Interaction between IL-13 and IL-4R{alpha} Among African American Asthmatics		147781		CDC	2007	Gene-gene interaction between the IL-13 and IL-4Ralpha genes may play an important role in asthma among African Americans.			IL-13		IL-4R						
150064		stomach cancer	CANCER	CAN	Helicobacter Infections|Stomach Neoplasms|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Seno, H.  et al. 2007	17444864				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J Gastroenterol Hepatol    2007    22(5)    729-37	Novel interleukin-4 and interleukin-1 receptor antagonist gene variations associated with non-cardia gastric cancer in Japan		147781		CDC	2007	A comprehensive analysis of 207 SNP of 11 cytokine genes revealed that variations in IL-4 and IL-1RN genes are negatively associated with the risk of developing gastric cancer following H. pylori infection. Distinct host cytokine responses in the gastric mucosa might have a role in H. pylori-induced carcinogenesis.											
150067	Y	asthma	IMMUNE	IMM	Asthma|Hypersensitivity, Immediate|Genetic Predisposition to Disease	16	16p11.2-12.1	IL4R	27232751	27283600		Loza, M. J.  et al. 2007	17586032				Interleukin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000418.2			CDC GDP info	3566	Hs.513457			J Allergy Clin Immunol    2007	Association between Q551R IL4R genetic variants and atopic asthma risk demonstrated by meta-analysis		147781		CDC	2007	the R551 IL4R variant imparts a modest yet significant risk for atopic asthma.											
150076	Y	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	7	7p21	IL6	22733322	22738141			16202743				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		147620		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
150084	N	periodontitis	IMMUNE	IMM	Periodontitis|Chronic Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Wohlfahrt, J. C.  et al. 2006	16512757				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Periodontol    2006    77(3)    426-436	No Association Between Selected Candidate Gene Polymorphisms and Severe Chronic Periodontitis		147620		CDC	2006	None of the SNPs tested were strongly associated with generalized severe chronic periodontitis in North American whites.											
150091		pulmonary fibrosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis	7	7p21	IL6	22733322	22738141		Vasakova, M.  et al. 2006	16573560				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Tissue Antigens    2006    67(3)    229-32	Th1/Th2 cytokine gene polymorphisms in patients with idiopathic pulmonary fibrosis		147620		CDC	2006												
150107		longevity	AGING	AGE	Inflammation	7	7p21	IL6	22733322	22738141		Capri, M.  et al. 2006	16803995				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Italian		CDC GDP info	3569	Hs.512234			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		147620		CDC	2006												
150112	N	heart disease, ischemic	CARDIOVASCULAR	CARD		7	7p21	IL6	22733322	22738141		Fu, H. X.  et al. 2006	16842669				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Zhonghua Xin Xue Guan Bing Za Zhi    2006    34(6)    519-22	Interleukin-6-597G/A and -572C/G polymorphisms and risk of coronary heart disease.		147620		CDC	2006												
150117		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Licastro, F.  et al. 2006	16930778				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		147620		CDC	2006												
150125	Y	pneumoconiosis, coal workers' silicosis	INFECTION	INF	Pneumoconiosis|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Liu, Y. H.  et al. 2006	17034727				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(9)    534-6	Relationship between genetic polymorphism of interleukin-6 and pneumoconiosis.		147620		CDC	2006	IL-6 (-634 C/G) genetic polymorphisms might play a role in the occurrence of silicosis.											
150126	Y	bone density	METABOLIC	MET		7	7p21	IL6	22733322	22738141		Wang, Y. B.  et al. 2006	17046587				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Yi Chuan Xue Bao    2006    33(10)    870-80	The Human Calcium-Sensing Receptor and Interleukin-6 Genes are Associated with Bone Mineral Density in Chinese		147620		CDC	2006												
150133	N	kidney transplant	RENAL	REN		7	7p21	IL6	22733322	22738141		Gendzekhadze, K.  et al. 2006	17138053				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Transpl Immunol    2006    16(3-4)    194-199	Risk of adverse post-transplant events after kidney allograft transplantation as predicted by CTLA-4 +49 and TNF-alpha -308 single nucleotide polymorphisms		147620		CDC	2006												
150134	N	cytomegalovirus	INFECTION	INF	Cytomegalovirus Infections	7	7p21	IL6	22733322	22738141		Alakulppi, N. S.  et al. 2006	17138064				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Transpl Immunol    2006    16(3-4)    258-62	The impact of donor cytokine gene polymorphisms on the incidence of cytomegalovirus infection after kidney transplantation		147620		CDC	2006	donor IL10 gene polymorphisms may influence the likelihood of CMV infection in the high risk patients investigated.											
150142		bone density	METABOLIC	MET		7	7p21	IL6	22733322	22738141		Yang, T. L.  et al. 2007	17331078				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1	Caucasian		CDC GDP info	3569	Hs.512234			Ann Hum Genet    2007    71(Pt 2)    152-9	Epistatic Interactions between Genomic Regions Containing the COL1A1 Gene and Genes Regulating Osteoclast Differentiation may Influence Femoral Neck Bone Mineral Density		147620		CDC	2007	we identified the epistatic effects on BMD between regions containing several prominent candidate genes.											
150152	N	sclerosis, systemic	CARDIOVASCULAR	CARD	Arthralgia|Arthritis|Hypertension, Pulmonary|Pulmonary Fibrosis|Scleroderma, Diffuse|Scleroderma, Limited|Genetic Predisposition to Disease	7	7p21	IL6	22733322	22738141		Mattuzzi, S.  et al. 2007	17444587				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			J Rheumatol    2007	Association of Polymorphisms in the IL1B and IL2 Genes with Susceptibility and Severity of Systemic Sclerosis		147620		CDC	2007	IL1B and IL2 gene polymorphisms may be involved in susceptibility to SSc.											
150155	N	colorectal cancer	CANCER	CAN		7	7p21	IL6	22733322	22738141		Talseth, B. A.  et al. 2007	17454884				Interleukin 6 (interferon, beta 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000600.1			CDC GDP info	3569	Hs.512234			Scand J Gastroenterol    2007    42(5)    628-32	Lack of association between genetic polymorphisms in cytokine genes and disease expression in patients with hereditary non-polyposis colorectal cancer		147620		CDC	2007	The SNPs selected for this study do not appear to modify disease expression in HNPCC.											
150176	Y	Clostridium difficile toxin-induced diarrhea	INFECTION	INF	Enterocolitis, Pseudomembranous|Diarrhea	4	4q13-q21	IL8	74825138	74828297		Jiang, Z. D.  et al. 2006	16573784			promoter	Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Am J Gastroenterol    2006	A Common Polymorphism in the Interleukin 8 Gene Promoter Is Associated with Clostridium difficile Diarrhea		146930		CDC	2006	These studies indicate a common SNP in the IL-8 gene is associated with$$$ increased susceptibility to CDD and with increased fecal IL-8 in diarrheal stools.											
150181	N	herpesvirus, Kaposi sarcoma-associated	INFECTION	INF	Sarcoma, Kaposi|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Brown, E. E.  et al. 2006	16702372				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Italian	Italy	CDC GDP info	3576	Hs.624			Cancer Epidemiol Biomarkers Prev    2006    15(5)    926-34	Associations of Classic Kaposi Sarcoma with Common Variants in Genes that Modulate Host Immunity		146930		CDC	2006												
150185		colorectal cancer	PHARMACOGENOMIC	PHARM	Colorectal Neoplasms|Disease Progression	4	4q13-q21	IL8	74825138	74828297		Zhang, W.  et al. 2006	16788380				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Pharmacogenet Genomics    2006    16(7)    475-83	Cyclin D1 and epidermal growth factor polymorphisms associated with survival in patients with advanced colorectal cancer treated with Cetuximab		146930		CDC	2006			cetuximab									
150188	Y	hematology indices	IMMUNE	IMM	Asthma	4	4q13-q21	IL8	74825138	74828297		Cheong, H. S.  et al. 2006	16897191				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Korean		CDC GDP info	3576	Hs.624			J Hum Genet    2006	Polymorphisms in interleukin 8 and its receptors (IL8, IL8RA and IL8RB) and association of common IL8 receptor variants with peripheral blood eosinophil counts		146930		CDC	2006												
150201		lymphoma	CANCER	CAN	Lymphoma, Follicular	4	4q13-q21	IL8	74825138	74828297		Cerhan, J. R.  et al. 2007	17327408				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2			CDC GDP info	3576	Hs.624			Blood    2007	Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival		146930		CDC	2007												
150213	Y	sclerosis, systemic	IMMUNE	IMM	Scleroderma, Systemic|Genetic Predisposition to Disease	4	4q13-q21	IL8	74825138	74828297		Lee, E. B.  et al. 2007	17599774				Interleukin 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000584.2	Korean		CDC GDP info	3576	Hs.624			Arthritis Rheum    2007    56(7)    2443-2448	Evidence of potential interaction of chemokine genes in susceptibility to systemic sclerosis		146930		CDC	2007	Crosstalk between the 2 chemokines CXCL8 and CCL5 may contribute to the susceptibility to SSc.			CCL5		IL8						
150219		bronchiectasis	OTHER	OTH	Colitis, Ulcerative|Bronchiectasis|Genetic Predisposition to Disease	2	2q35	IL8RA	218735812	218739961		Boyton, R. J.  et al. 2006	17026468				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2			CDC GDP info	3577	Hs.194778			Tissue Antigens    2006    68(4)    325-330	IFNgamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis		146929		CDC	2006												
150221		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression	2	2q35	IL8RA	218735812	218739961		Vasilescu, A.  et al. 2007	17360650				Interleukin 8 receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000634.2			CDC GDP info	3577	Hs.194778			Proc Natl Acad Sci U S A    2007    104(9)    3354-9	A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients		146929		CDC	2007												
150231	Y	asthma	IMMUNE	IMM	Asthma	5	5q31.1	IL9	135255833	135259415		Wang, T. N.  et al. 2006	16611254				Interleukin 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000590.1			CDC GDP info	3578	Hs.960			Int J Immunogenet    2006    33(2)    105-110	The synergistic effects of the IL-9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test		146931		CDC	2006	this study has found that the IL-9 gene was slightly associated with asthmatics who have positive specific IgE against Der p (or Der f) and house dust, when information on environmental factors was incorporated as effect modifiers.											
150244	N	birth weight body mass	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Birth Weight	11	11p15.5	INS	2106922	2139015		Hummel, M.  et al. 2007	17310371				Insulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000207.2	German		CDC GDP info	3630	Hs.89832			Diabetologia    2007	Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactions		176730		CDC	2007	 Our findings are consistent with the hypothesis that a diabetic intrauterine environment interacts with gene(s) marked by the type 1 diabetes susceptibility HLA DR4 alleles to increase fetal growth.											
150248	Y	obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	2	2q14.1	INSIG2	118562519	118584067		Herbert, A.  et al. 2006	16614226				Insulin induced gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647805	African American;European		CDC GDP info	51141	Hs.7089			Science    2006    312(5771)    279-83	A common genetic variant is associated with adult and childhood obesity				CDC	2006												
150253	Y	cryptorchidism infertility, male testicular cancer	CANCER	CAN	Infertility, Male|Testicular Diseases|Cryptorchidism|Gonadal Dysgenesis|Syndrome	19	19p13.2-p12	INSL3	17788321	17793320		Ferlin, A.  et al. 2006	16687567				Insulin-like 3 (Leydig cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005543.2			CDC GDP info	3640	Hs.37062			Mol Hum Reprod    2006	Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome		146738		CDC	2006	we found a significant association of INSL3 gene mutations in men presenting one or more signs of TDS syndrome.											
150266		asthma	IMMUNE	IMM	Asthma	12	12q14.3	IRAK3	64869283	64928652		Nakashima, K.  et al. 2006	16432636				Interleukin-1 receptor-associated kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057800			CDC GDP info	11213	Hs.369265			J Hum Genet    2006	An association study of asthma and related phenotypes with polymorphisms in negative regulator molecules of the TLR signaling pathway		604459		CDC	2006												
150269		Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	12	12q14.3	IRAK3	64869283	64928652		Weersma, R. K.  et al. 2007	17558906				Interleukin-1 receptor-associated kinase 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC057800			CDC GDP info	11213	Hs.369265			Scand J Gastroenterol    2007    42(7)    827-33	Association of interleukin-1 receptor-associated kinase M (IRAK-M) and inflammatory bowel diseases		604459		CDC	2007	were stratified for CARD15 mutations R702W, G908R and 1007fsinsC.			IRAK3		NOD2						
150273	Y	hepatitis C	INFECTION	INF	Hepatitis C|Hepatitis C, Chronic	5	5q31.1	IRF1	131846683	131859158		Wietzke-Braun, P.  et al. 2006	16894313			promoter	Interferon regulatory factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002198.1			CDC GDP info	3659	Hs.436061			Eur J Gastroenterol Hepatol    2006    18(9)    991-7	Interferon regulatory factor-1 promoter polymorphism and the outcome of hepatitis C virus infection		147575		CDC	2006	Our findings suggest the possibility that the -300AA IRF-1 genotype is associated with outcome in patients with HCV genotype 3 infection. In addition, in HCV genotype-1-infected patients, this genotype appears associated with response to therapy.		interferon									
150286	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic	7	7q32	IRF5	128365229	128377324		Reddy, M. V.  et al. 2007	17476532				Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3	European;Indian;Mexican		CDC GDP info	3663	Hs.521181			Hum Genet    2007	Genetic association of IRF5 with SLE in Mexicans		607218		CDC	2007												
150289	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid	7	7q32	IRF5	128365229	128377324		Sigurdsson, S.  et al. 2007	17599733			promoter	Interferon regulatory factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002200.3			CDC GDP info	3663	Hs.521181			Arthritis Rheum    2007    56(7)    2202-2210	Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis		607218		CDC	2007	Given the fact that anti-CCP-negative RA differs from anti-CCP-positive RA with respect to genetic and environmental risk factor profiles, our results indicate that genetic variants of IRF5 contribute to a unique disease etiology and pathogenesis in anti-CCP-negative RA.											
150292		diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	16	16q24.1	IRF8	84490274	84513712		Morris, G. A.  et al. 2006	16504056				Interferon regulatory factor 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002163			CDC GDP info	3394	Hs.137427			BMC Genet    2006    7(1)    12	Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes				CDC	2006	We have developed informative sets of SNPs for the interferon and interferon related genes.											
150301		schizophrenia	PSYCH	PSY	Schizophrenia	2	2q36	IRS1	227308181	227372719		Gunnell, D.  et al. 2007	17044098				Insulin receptor substrate 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005544.1	Irish		CDC GDP info	3667	Hs.471508			Am J Med Genet B Neuropsychiatr Genet    2007    144(1)    117-20	IGF1, growth pathway polymorphisms and schizophrenia		147545		CDC	2007												
150310		colon cancer rectal cancer	PHARMACOGENOMIC	PHARM	Colonic Neoplasms|Rectal Neoplasms	13	13q34	IRS2	109204184	109236915		Slattery, M. L.  et al. 2006	16489531				Insulin receptor substrate 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003749.2		Minnesota|California|Utah	CDC GDP info	8660	Hs.442344			Cancer Causes Control    2006    17(3)    239-49	PPARgamma and Colon and Rectal Cancer		600797		CDC	2006			ibuprofen-type drugs									
150321		thromboembolic disease	CARDIOVASCULAR	CARD	Pregnancy Complications, Cardiovascular|Thromboembolism|Venous Thrombosis|Genetic Predisposition to Disease	5	5q23-q31	ITGA2	52320912	52426366		Podciechowski, L.  et al. 2006	16875034				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2		Poland	CDC GDP info	3673	Hs.591770			Ginekol Pol    2006    77(4)    286-91, 294-5	Occurrence of plasmic and platelet prothrombotic polymorphisms in women in childbirth		192974		CDC	2006	Our study shows that factor V Leiden mutation, and investigated platelet GP Ia, and GP IIIa polymorphisms frequently coexist.											
150331		platelet aggregation	PHARMACOGENOMIC	PHARM		5	5q23-q31	ITGA2	52320912	52426366		Lim, E.  et al. 2007	17184645				Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002203.2			CDC GDP info	3673	Hs.591770			Ann Thorac Surg    2007    83(1)    134-8	Dose-related efficacy of aspirin after coronary surgery in patients With Pl(A2) polymorphism (NCT00262275)		192974		CDC	2007	Genetic polymorphisms that affect the response to aspirin are common.		aspirin									
150345		priapism	HEMATOLOGICAL	HEM	Priapism|Anemia, Sickle Cell|Thalassemia	2	2q31-q32	ITGAV	187163044	187253873		Elliott, L.  et al. 2007	17408468				Integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002210			CDC GDP info	3685	Hs.436873			Br J Haematol    2007    137(3)    262-7	Genetic polymorphisms associated with priapism in sickle cell disease		193210		CDC	2007												
150390		schizophrenia	PSYCH	PSY	Schizophrenia	14	14q32	JAG2	104679120	104706206		Passos Gregorio, S.  et al. 2006	16899352				Jagged 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002226.3	Brazilian;Danish	Brazil|Denmark	CDC GDP info	3714	Hs.433445			Schizophr Res    2006    88(1-3)    275-82	Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects		602570		CDC	2006												
150394		thrombosis, deep vein	PHARMACOGENOMIC	PHARM	Thrombosis|Thrombocythemia, Hemorrhagic|Leukocytosis	9	9p24	JAK2	4975244	5117995		Carobbio, A.  et al. 2007	17110452				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Blood    2007    109(6)    2310-3	Leukocytosis is a risk factor for thrombosis in essential thrombocythemia		147796		CDC	2007			hydroxyurea									
150398		essential thrombocythemia myelofibrosis polycythemia vera splenomegaly thrombosis	CANCER	CAN	Myeloproliferative Disorders|Myelofibrosis|Polycythemia Vera|Thrombocytosis	9	9p24	JAK2	4975244	5117995		Andrikovics, H.  et al. 2007	17344140				Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Orv Hetil    2007    148(5)    203-10	Role of the activating mutation Val617Phe of Janus kinase 2 gene in myeloproliferative diseases and significance of its detection.		147796		CDC	2007	the non-invasive mutation analysis of the Janus kinase 2 Val617Phe is suitable for routine laboratory application and helps the differential diagnosis of myeloproliferative syndrome. Although the exact role of Val617Phe mutation testing has not yet been identified on the basis of a broad professional consensus, the testing is suggested in cases of erythrocytoses and thrombocytoses of unknown origin.											
150404	Y	thrombocythemia	HEMATOLOGICAL	HEM	Venous Thrombosis|Thrombocythemia, Hemorrhagic	9	9p24	JAK2	4975244	5117995		Kittur, J.  et al. 2007	17440984	JAK2V617F			Janus kinase 2 (a protein tyrosine kinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004972.2			CDC GDP info	3717	Hs.591081			Cancer    2007	Clinical correlates of JAK2V617F allele burden in essential thrombocythemia		147796		CDC	2007	JAK2V617F allele burden imparts additional phenotypic effects in ET.											
150426			CARDIOVASCULAR	CARD	Long QT Syndrome	21	21q22.12	KCNE2	34658192	34665310		Tester, D. J.  et al. 2006	16818214				Potassium voltage-gated channel, Isk-related family, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172201.1			CDC GDP info	9992	Hs.551521			Heart Rhythm    2006    3(7)    815-21	Allelic dropout in long QT syndrome genetic testing		603796		CDC	2006	Allelic dropout secondary to intronic SNP-primer mismatch prevented the discovery of LQTS-causing mutations in four cases. Considering that many LQTS genetic testing research laboratories have used these primers, patients who reportedly are genotype negative may benefit from re-examination of those regions susceptible to allelic dropout due to primer-disrupt											
150449	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11p15.1	KCNJ11	17363371	17367440		Kokubo, Y.  et al. 2006	17137217				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		600937		CDC	2006												
150456		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11p15.1	KCNJ11	17363371	17367440		Lyssenko, V.  et al. 2005	17570749				Potassium inwardly-rectifying channel, subfamily J, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000525.3			CDC GDP info	3767	Hs.248141			PLoS Med    2005    2(12)    e345	Genetic prediction of future type 2 diabetes		600937		CDC	2005	We demonstrate in a large prospective study that variants in the PPARG and CAPN10 genes predict future T2D.		body mass glucose									
150481		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q24.1	KIF11	94342883	94405130		Sladek, R.  et al. 2007	17293876				Kinesin family member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004523.2	French		CDC GDP info	3832	Hs.8878			Nature    2007	A genome-wide association study identifies novel risk loci for type 2 diabetes		148760		CDC	2007												
150579	Y	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	4	4q11-q12	KIT	55218917	55301612		Garcia-Barcelo, M.  et al. 2007	17448763				V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000222.1			CDC GDP info	3815	Hs.479754			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		164920		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
150588	Y	bone density	METABOLIC	MET		13	13q12	KL	32488200	32538279		Zarrabeitia, M. T.  et al. 2007	17205327				Klotho	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004795.2			CDC GDP info	9365	Hs.524953			Calcif Tissue Int    2007	Klotho Gene Polymorphism and Male Bone Mass		604824		CDC	2007	these results suggest that allelic variants of Klotho constitute one of the genetic factors influencing BMD in male adults.											
150596		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms|Genetic Predisposition to Disease	10	10p15	KLF6	3808187	3817455		Spinola, M.  et al. 2007	17223258				Kruppel-like factor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008490.1	Italian;Norwegian		CDC GDP info	1316	Hs.4055			Cancer Lett    2007	Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene		602053		CDC	2007												
150598		vasodilation	CARDIOVASCULAR	CARD	Hypertension	19	19q13.3	KLK1	56014215	56018855		Rossi, G. P.  et al. 2006	16957554				Kallikrein 1, renal/pancreas/salivary	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002257.2			CDC GDP info	3816	Hs.123107			J Hypertens    2006    24(10)    1955-1963	Tissue kallikrein gene polymorphisms induce no change in endothelium-dependent or independent vasodilation in hypertensive and normotensive subjects		147910		CDC	2006	were obtained with haplotype analysis.											
150601		prostate cancer	CANCER	CAN		19	19q13.41	KLK2	56068500	56075635		Pal, P.  et al. 2007	17593395				Kallikrein 2, prostatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005551.3	European		CDC GDP info	3817	Hs.515560			Hum Genet    2007	Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin		147960		CDC	2007												
150606	Y	androgen deprivation therapy response prostate specific antigen	METABOLIC	MET	Prostatic Neoplasms|Prostatic Hyperplasia|Genetic Predisposition to Disease	19	19q13.41	KLK3	56049982	56055832		Shibahara, T.  et al. 2006	17094454				Kallikrein 3, (prostate specific antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001648.2			CDC GDP info	354	Hs.171995			Anticancer Res    2006    26(5A)    3365-71	A G/A polymorphism in the androgen response element 1 of prostate-specific antigen gene correlates with the response to androgen deprivation therapy in Japanese population		176820		CDC	2006												
150620		monoclonal gammopathy multiple myeloma	PSYCH	PSY	Multiple Myeloma|Paraproteinemias	12	12p12.1	KRAS	25249446	25295130		Martin, P.  et al. 2005	16142319				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Int J Oncol    2005    27(4)    1023-8	RAS mutations are uncommon in multiple myeloma and other monoclonal gammopathies		190070		CDC	2005												
150626		pancreatic cancer	CANCER	CAN	Pancreatic Neoplasms	12	12p12.1	KRAS	25249446	25295130		Wu, X.  et al. 2006	16808798				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Chin J Dig Dis    2006    7(3)    170-4	Evaluation of the diagnostic value of serum tumor markers, and fecal k-ras and p53 gene mutations for pancreatic cancer		190070		CDC	2006	Serum CA199 and CA242 are valuable diagnostic tools for pancreatic cancer.											
150643		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	X	Xq28	L1CAM	152780580	152804778		Depboylu, C.  et al. 2006	16650578				L1 cell adhesion molecule	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000425.2		Germany	CDC GDP info	3897	Hs.522818			Neurosci Lett    2006	alpha2-Macroglobulin, lipoprotein receptor-related protein and lipoprotein receptor-associated protein and the genetic risk for developing Alzheimer's disease		308840		CDC	2006												
150648	Y	stomach cancer	CANCER	CAN	Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	8	8q22.1	LAPTM4B	98856984	98934006		Liu, Y.  et al. 2006	17074969				Lysosomal associated protein transmembrane 4 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_018407.4			CDC GDP info	55353	Hs.492314			Ann Oncol    2006	Relationship between LAPTM4B gene polymorphism and susceptibility of gastric cancer				CDC	2006	This study indicated that allele *2 of LAPTM4B might be the risk factor of gastric cancer, which could be associated with genetic susceptibility of gastric cancer.											
150650	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	20	20q11.23-q12	LBP	36408298	36439067		Kozlowski, P.  et al. 2006	16907704				Lipopolysaccharide binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004139.2			CDC GDP info	3929	Hs.154078			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels		151990		CDC	2006												
150654		atherosclerosis, carotid	CARDIOVASCULAR	CARD	Coronary Disease	16	16q22.1	LCAT	66531287	66535516		Miller, M.  et al. 2006	17113061				Lecithin-cholesterol acyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000229.1			CDC GDP info	3931	Hs.387239			Clin Chim Acta    2006	Do mutations causing low HDL-C promote increased carotid intima-media thickness?		606967		CDC	2006	Genetic variants identified in the present study may be insufficient to promote early carotid atherosclerosis.											
150665		atherosclerosis, coronary cholesterol	CARDIOVASCULAR	CARD		19	19p13.3	LDLR	11061131	11105490		Humphries, S. E.  et al. 2006	16801348				Low density lipoprotein receptor (familial hypercholesterolemia)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000527.2			CDC GDP info	3949	Hs.213289			J Med Genet    2006	Genetic causes of Familial Hypercholesterolaemia in UK patients		606945		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.											
150679	N	hypertension	CARDIOVASCULAR	CARD	Hypertension|Obesity, Morbid	7	7q31.3	LEP	127668566	127684917		Maestrini, S.  et al. 2006	17114907				Leptin (obesity homolog, mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000230.1			CDC GDP info	3952	Hs.194236			J Endocrinol Invest    2006    29(9)    776-80	Lack of association between the tetranucleotide repeat polymorphism in the 3'-flanking region of the leptin gene and hypertension in severly obese patients		164160		CDC	2006												
150689		obesity	METABOLIC	MET	Obesity|Genetic Predisposition to Disease	1	1p31	LEPR	65658905	65875410		Portoles, O.  et al. 2006	17031518			promoter	Leptin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002303.3		Spain	CDC GDP info	3953	Hs.23581			Eur J Epidemiol    2006    21(8)    605-12	Effect of genetic variation in the leptin gene promoter and the leptin receptor gene on obesity risk in a population-based case-control study in Spain		601007		CDC	2006	the -2548G > A polymorphism is not a relevant obesity marker in this Mediterranean population, although Q223R does seen to be so.											
150696	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Genetic Predisposition to Disease	22	22q12-q13	LGALS2	36296198	36305970		Mangino, M.  et al. 2006	17098239	LGALS2 functional variant rs7291467			Lectin, galactoside-binding, soluble, 2 (galectin 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006498.2			CDC GDP info	3957	Hs.531776			Atherosclerosis    2006	LGALS2 functional variant rs7291467 is not associated with susceptibility to myocardial infarction in Caucasians	rs7291467	150571		CDC	2006												
150701	N	thyroid cancer	CANCER	CAN		17	17q25	LGALS3BP	74478931	74487656		Lukienczuk, T.  et al. 2006	17091456				Lectin, galactoside-binding, soluble, 3 binding protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC015761			CDC GDP info	3959	Hs.514535			Endokrynol Pol    2006    57(Suppl A)    45-51	SNP polymorphism of LGALS3BP gene in patients with benign and malignant thyroid tumours.		600626		CDC	2006	Single nucleotide polymorphism (SNP) of LGALS3BP gene (found in NCBI) database are not characteristic for papillary thyroid cancer, follicular adenomas and nodular goiter.											
150713		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q11.2-q12	LIG3	30331650	30356201		Landi, S.  et al. 2006	17108146				Ligase III, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013975.2			CDC GDP info	3980	Hs.100299			Cancer Res    2006    66(22)    11062-11069	DNA Repair and Cell Cycle Control Genes and the Risk of Young-Onset Lung Cancer		600940		CDC	2006												
150721	Y	brain aneurysm	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	7	7q11.23	LIMK1	73136091	73174790		Akagawa, H.  et al. 2007	17287949				LIM domain kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002314			CDC GDP info	3984	Hs.647035			Hum Genet    2007	Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms		601329		CDC	2007	one SNP of LOXL2 showed a significant association with IA individually, and we also detected a gene-gene interaction of LOXL2 with ELN/LIMK1, which may play an important role in susceptibility to IA.											
150723		intima-media thickness	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Diabetes Mellitus, Type 2	15	15q21-q23	LIPC	56511466	56648364		Burdon, K. P.  et al. 2005	16141008				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1	European		CDC GDP info	3990	Hs.188630			J Med Genet    2005    42(9)    720-4	Association of genes of lipid metabolism with measures of subclinical cardiovascular disease in the Diabetes Heart Study		151670		CDC	2005	There is evidence for modest, but significant, association of multiple single nucleotide polymorphisms in lipid genes with measures of subclinical CVD.											
150731	Y	hypertension, pregnancy induced preeclampsia	CARDIOVASCULAR	CARD	Hypertension, Pregnancy-Induced|Pre-Eclampsia|Genetic Predisposition to Disease	15	15q21-q23	LIPC	56511466	56648364		Bernard, N.  et al. 2007	17318300				Lipase, hepatic	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000236.1			CDC GDP info	3990	Hs.188630			J Hum Genet    2007    52(3)    244-254	The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension		151670		CDC	2007	the combined effect of LIPC, LIPE and ApoCIII gene polymorphisms may increase the likelihood of GH, but seemingly not of PE.											
150742		diabetes, type 2 metabolic syndrome	METABOLIC	MET	Diabetes Mellitus, Type 2|Metabolic Syndrome X|Genetic Predisposition to Disease	1	1q21.2-q21.3	LMNA	154318992	154376495		Mesa, J. L.  et al. 2007	17327461				Lamin A/C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170707.1			CDC GDP info	4000	Hs.491359			Diabetes    2007    56(3)    884-9	Lamin a/c polymorphisms, type 2 diabetes, and the metabolic syndrome		150330		CDC	2007												
150744	N	schizophrenia weight gain	PHARMACOGENOMIC	PHARM	Weight Gain|Schizophrenia	7	7q31.32	LMOD2	123083155	123089355		Lane, H. Y.  et al. 2006	16633140				Leiomodin 2 (cardiac)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_207163			CDC GDP info	442721	Hs.592260			J Clin Psychopharmacol    2006    26(2)    128-34	Risperidone-related weight gain				CDC	2006	These results suggest that numerous genetic and nongenetic factors affect antipsychotics-related weight gain.		risperidone									
150781		heart disease, ischemic	CARDIOVASCULAR	CARD	Coronary Artery Disease|Genetic Predisposition to Disease	8	8p22	LPL	19841057	19869049		Volcik, K.  et al. 2007	17568951				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			J Stud Alcohol Drugs    2007    68(4)    485-92	Interaction effects of high-density lipoprotein metabolism gene variation and alcohol consumption on coronary heart disease risk		609708		CDC	2007	Results from the current study suggest that interaction effects between alcohol consumption and HDL cholesterol metabolism gene variation influence the risk of incident CHD in black men.		alcohol									
150785	N	alcoholism personality disorders	CHEMDEPENDENCY	CHEM		12	12p13	LPRP	10889748	10893319		Ducci, F.  et al. 2007	17592478				proline rich 4 (lacrimal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=BX648418			CDC GDP info	11272	Hs.408153			Mol Psychiatry    2007	Interaction between a functional MAOA locus and childhood sexual abuse predicts alcoholism and antisocial personality disorder in adult women		605359		CDC	2007	MAOA seems to moderate the impact of childhood trauma on adult psychopathology in female subjects in the same way as previously shown among male subjects.		childhood sexual abuse									
150791		ovarian cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Endometrioid|Cystadenocarcinoma, Serous|Ovarian Neoplasms	12	12q13-q14	LRP1	55808548	55893392		Obata, H.  et al. 2006	16821592				Low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002332.1			CDC GDP info	4035	Hs.162757			Anticancer Res    2006    26(3B)    2227-32	Association between single nucleotide polymorphisms of drug resistance-associated genes and response to chemotherapy in advanced ovarian cancer		107770		CDC	2006	Analysis of drug resistance gene polymorphism appears to be an indicator of the response to chemotherapy in advanced ovarian cancer.		chemotherapy									
150796	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Lau, H. H.  et al. 2006	16622736				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1			CDC GDP info	4041	Hs.6347			J Bone Miner Metab    2006    24(3)    226-34	Assessment of linkage and association of 13 genetic loci with bone mineral density		603506		CDC	2006	ERalpha, ERbeta and LRP5 are important candidate genes determining BMD variation, especially in females.											
150806	Y	bone density	METABOLIC	MET		11	11q13.4	LRP5	67836683	67973319		Giroux, S.  et al. 2007	17307038				Low density lipoprotein receptor-related protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002335.1	Canadian;French		CDC GDP info	4041	Hs.6347			Bone    2007	LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women		603506		CDC	2007	The two LRP5 polymorphisms were found to be associated with all five bone measures (L2L4 and femoral neck DXA as well as heel SOS, BUA and stiffness index) in the whole sample.											
150810	N	dementia	PSYCH	PSY		1	1p34	LRP8	53483799	53566409		Helbecque, N.  et al. 2007	17614163				Low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004631.3			CDC GDP info	7804	Hs.576154			Neurobiol Aging    2007	Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia		602600		CDC	2007												
150819		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353			16533964				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Spanish;Spanish;European	Spain	CDC GDP info	120892	Hs.187636			Arch Neurol    2006    63(3)    377-82	LRRK2 mutations in Spanish patients with Parkinson disease		609007		CDC	2006	The G2019S mutation frequency in PD patients from northeast Spain is similar to that reported in other European regions.											
150822		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Marongiu, R.  et al. 2006	16622859				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2006	Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease		609007		CDC	2006												
150830	Y	essential tremor	NEUROLOGICAL	NEUR	Parkinson Disease|Essential Tremor	12	12q12	LRRK2	38905080	39049353		Deng, H.  et al. 2006	16939701	LRKK2 I2012T, G2019S and I2020T			Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Caucasian	United States	CDC GDP info	120892	Hs.187636			Neurosci Lett    2006	The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor		609007		CDC	2006	LRKK2 I2012T, G2019S and I2020T variants are rare causes of Caucasian ET.											
150835		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	12	12q12	LRRK2	38905080	39049353		Punia, S.  et al. 2006	17052850				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Indian	India	CDC GDP info	120892	Hs.187636			Neurosci Lett    2006	Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients		609007		CDC	2006												
150851		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Cho, J. W.  et al. 2007	17352347				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2	Korean;Asian		CDC GDP info	120892	Hs.187636			Can J Neurol Sci    2007    34(1)    53-5	The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease		609007		CDC	2007	Our result confirms previous reports that the G2019S mutation is rare among PD patients in the Asian population.											
150855		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	12	12q12	LRRK2	38905080	39049353		Huang, Y.  et al. 2007	17427941				Leucine-rich repeat kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198578.2			CDC GDP info	120892	Hs.187636			Mov Disord    2007	Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's Disease		609007		CDC	2007												
150876		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Myocardial Infarction	6	6p21.3	LTA	31647718	31650077		Asselbergs, F. W.  et al. 2006	17040205				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Clin Sci (Lond)    2006	Effects of lymphotoxin-alpha gene and galectin 2 gene polymorphisms on inflammatory biomarkers, cellular adhesion molecules, and risk of coronary heart disease		153440		CDC	2006												
150881		diabetic nephropathy	RENAL	REN	Diabetic Nephropathies	6	6p21.3	LTA	31647718	31650077		Kankova, K.  et al. 2007	17345061				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2			CDC GDP info	4049	Hs.36			Diabetologia    2007	Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach		153440		CDC	2007	 Using the set-association approach we identified significant associations of several SNPs on chromosomes 6 and 7 with DN. The single- and multi-locus analyses represent complementary methods.											
150888	N	atherosclerosis, coronary myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction	6	6p21.3	LTA	31647718	31650077		Kimura, A.  et al. 2007	17493152				Lymphotoxin alpha (TNF superfamily, member 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000595.2	Japanese;Korean		CDC GDP info	4049	Hs.36			Tissue Antigens    2007    69(3)    265-9	Lack of association between LTA and LGALS2 polymorphisms and myocardial infarction in Japanese and Korean populations		153440		CDC	2007												
150893		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	19	19q13.1-q13.2	LTBP4	45790911	45827565		Hersh, C. P.  et al. 2006	16456143				Latent transforming growth factor beta binding protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001042544			CDC GDP info	8425	Hs.466766			Am J Respir Crit Care Med    2006	Genetic Association Analysis of Functional Impairment in Chronic Obstructive Pulmonary Disease				CDC	2006	Polymorphisms in several genes seem to be associated with COPD-related traits other than FEV(1). These associations may identify genes in pathways important for COPD pathogenesis.											
150903	N	C-reactive protein	IMMUNE	IMM	Crohn Disease|Atherosclerosis	6	6p25.1	LY86	6533932	6600215		Kozlowski, P.  et al. 2006	16907704				Lymphocyte antigen 86	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF794909			CDC GDP info	9450	Hs.653138			Ann Hum Genet    2006    70(5)    574-586	Lack of Association Between Genetic Variation in 9 Innate Immunity Genes and Baseline CRP Levels				CDC	2006												
150905		breast cancer	CANCER	CAN		4	4q27	MAD2L1	121200037	121207411		Vaclavicek, A.  et al. 2007	17268814				MAD2 mitotic arrest deficient-like 1 (yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U65410	German		CDC GDP info	4085	Hs.591697			Breast Cancer Res Treat    2007	Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk		601467		CDC	2007												
150920		alcoholism body mass dopamine	CHEMDEPENDENCY	CHEM	Alcoholism	X	Xp11.4-p11.3	MAOA	43400352	43491012		Ducci, F.  et al. 2006	16770335			promoter	Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Finnish		CDC GDP info	4128	Hs.183109			Mol Psychiatry    2006	A functional polymorphism in the MAOA gene promoter (MAOA-LPR) predicts central dopamine function and body mass index		309850		CDC	2006												
150929	Y	sleep disorders	NEUROLOGICAL	NEUR	Alzheimer Disease|Sleep Deprivation|Genetic Predisposition to Disease	X	Xp11.4-p11.3	MAOA	43400352	43491012		Craig, D.  et al. 2006	16944667				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Sleep    2006    29(8)    1003-7	Genetically increased risk of sleep disruption in Alzheimer's disease		309850		CDC	2006	We conclude that sleep disturbance in AD is common and distressing and is associated with$$$ genetic variation at MAO-A.											
150936		depressive disorder, major	PHARMACOGENOMIC	PHARM	Depressive Disorder, Major	X	Xp11.4-p11.3	MAOA	43400352	43491012		Tadic, A.  et al. 2006	17192957				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Am J Med Genet B Neuropsychiatr Genet    2006	The MAOA T941G polymorphism and short-term treatment response to mirtazapine and paroxetine in major depression		309850		CDC	2006			mirtazapine paroxetine									
150942	Y	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	X	Xp11.4-p11.3	MAOA	43400352	43491012		Xu, X.  et al. 2007	17328795				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2	Caucasian	Taiwan	CDC GDP info	4128	Hs.183109			BMC Psychiatry    2007    7(1)    10	Association study between the monoamine oxidase A gene and attention deficit hyperactivity disorder in Taiwanese samples		309850		CDC	2007	These findings suggest the importance of the 941G/T MAO-A polymorphism in the development of ADHD in the Taiwanese population. These results replicate previously published findings in a Caucasian sample.											
150950		depressive disorder, major endocrine regulation	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	X	Xp11.4-p11.3	MAOA	43400352	43491012		Jabbi, M.  et al. 2007	17453062				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Mol Psychiatry    2007    12(5)    483-90	Convergent genetic modulation of the endocrine stress response involves polymorphic variations of 5-HTT, COMT and MAOA		309850		CDC	2007												
150955	Y	alcoholism personality disorders	CHEMDEPENDENCY	CHEM		X	Xp11.4-p11.3	MAOA	43400352	43491012		Ducci, F.  et al. 2007	17592478				Monoamine oxidase A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000240.2			CDC GDP info	4128	Hs.183109			Mol Psychiatry    2007	Interaction between a functional MAOA locus and childhood sexual abuse predicts alcoholism and antisocial personality disorder in adult women		309850		CDC	2007	MAOA seems to moderate the impact of childhood trauma on adult psychopathology in female subjects in the same way as previously shown among male subjects.		childhood sexual abuse									
150961	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	X	Xp11.23	MAOB	43510800	43626625		Bialecka, M.  et al. 2007	17270484				Monoamine oxidase B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000898.3			CDC GDP info	4129	Hs.46732			Parkinsonism Relat Disord    2007	Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson(')s disease		309860		CDC	2007												
150966	N	Graves' disease	IMMUNE	IMM	Graves Disease	6	6q25.1-q25.3	MAP3K7IP2	149680755	149774440			16384851				Mitogen-activated protein kinase kinase kinase 7 interacting protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB018276	Caucasian		CDC GDP info	23118	Hs.269775			J Clin Endocrinol Metab    2005	Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease		605101		CDC	2005	Functional evidence suggests that the 001Msp, fcrl3_3, fcrl3_5, and fcrl3_6 SNPs could cause changes in B cell signaling and activation pathways that could account for their association with GD.											
150971		progressive supranuclear palsy	NEUROLOGICAL	NEUR	Supranuclear Palsy, Progressive	17	17q21.1	MAPT	41327623	41461546		Baba, Y.  et al. 2006	16839689				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			Neurosci Lett    2006	Effect of MAPT and APOE on prognosis of progressive supranuclear palsy		157140		CDC	2006												
150982	N	dementia, frontotemporal	PSYCH	PSY		1	1p36.3-p36.2	MASP2	11009166	11029872		Schumacher, A.  et al. 2007	17614162				Mannan-binding lectin serine peptidase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006610.2	German		CDC GDP info	10747	Hs.632369			Neurobiol Aging    2007	No association of TDP-43 with sporadic frontotemporal dementia		605102		CDC	2007												
150985	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis|Lung Diseases|Disease Progression	10	10q11.2-q21	MBL2	54195145	54201466			16429424				Mannose-binding lectin (protein C) 2, soluble (opsonic defect)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000242.1			CDC GDP info	4153	Hs.499674			Pediatr Pulmonol    2006	Association of Common Haplotypes of Surfactant Protein A1 and A2 (SFTPA1 and SFTPA2) Genes with Severity of Lung Disease in Cystic Fibrosis		154545		CDC	2006												
151002	Y	melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	16	16q24.3	MC1R	88512526	88530006		Landi, M. T.  et al. 2006	16809487				Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002386.2	Caucasian		CDC GDP info	4157	Hs.513829			Science    2006	MC1R Germline Variants Confer Risk for BRAF-Mutant Melanoma		155555		CDC	2006	Subjects who carry inherited variants of MC1R are more likely to have BRAF mutations in their melanoma lesions		sunlight									
151017		eating disorders obesity	PSYCH	PSY	Obesity|Eating Disorders	18	18q22	MC4R	56189543	56190981		Lubrano-Berthelier, C.  et al. 2006	16507637				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			J Clin Endocrinol Metab    2006	Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults		155541		CDC	2006	Obese adult carriers of functionally relevant MC4R mutations do not specifically present with binge-eating disorder or a history of early-onset obesity. The onset and severity of the obesity in the carriers is related to the functional severity of the MC4R mutations.											
151019		obesity	METABOLIC	MET	Obesity	18	18q22	MC4R	56189543	56190981		Rong, R.  et al. 2006	16886960				Melanocortin 4 receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005912.1			CDC GDP info	4160	Hs.532833			Clin Endocrinol (Oxf)    2006    65(2)    198-205	Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population		155541		CDC	2006	Two known polymorphisms and three novel variants of the MC4R were identified.											
151026		mucolipidosis type IV	OTHER	OTH	Mucolipidoses	19	19p13.3-p13.2	MCOLN1	7493511	7504863		Bach, G.  et al. 2005	16287144				Hypothetical protein LOC147791	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020533.1	Ashkenazi;Jewish	Israel|Europe	CDC GDP info	57192	Hs.631858			Hum Mutat    2005    26(6)    591	The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations		605248		CDC	2005												
151033	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Copson, E. R.  et al. 2006	16563154				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			BMC Cancer    2006    6(1)    80	Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers		164785		CDC	2006	We found no evidence that the MDM2 SNP309 accelerates tumour development in carriers of known pathogenic germline mutations of BRCA1.											
151035	N	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q14.3-q15	MDM2	67488246	67520481		Boersma, B. J.  et al. 2006	16818855				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			J Natl Cancer Inst    2006    98(13)    911-919	Association of Breast Cancer Outcome With Status of p53 and MDM2 SNP309		164785		CDC	2006	A strong interaction between SNP309 status and tumor p53 status appears to modify the association between p53 status and breast cancer survival.											
151040		lung cancer	CANCER	CAN		12	12q14.3-q15	MDM2	67488246	67520481		Jun, H. J.  et al. 2006	17013834				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2	Korean		CDC GDP info	4193	Hs.567303			Mol Carcinog    2006	Combined effects of p73 and MDM2 polymorphisms on the risk of lung cancer		164785		CDC	2006												
151047		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	12	12q14.3-q15	MDM2	67488246	67520481		Cox, D. G.  et al. 2007	17387621				Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002392.2			CDC GDP info	4193	Hs.567303			Cancer Causes Control    2007	The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies		164785		CDC	2007												
151053		Rett syndrome	NEUROLOGICAL	NEUR	Rett Syndrome	X	Xq28	MECP2	152940457	153055772		Kim, I. J.  et al. 2006	16672765				Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2	Korean		CDC GDP info	4204	Hs.200716			Exp Mol Med    2006    38(2)    119-25	Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome		300005		CDC	2006												
151062		autism	PSYCH	PSY	Autistic Disorder	X	Xq28	MECP2	152940457	153055772		Coutinho, A. M.  et al. 2007	17427193			coding sequence, 3' untranslated region	Methyl CpG binding protein 2 (Rett syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004992.2	Portuguese		CDC GDP info	4204	Hs.200716			Am J Med Genet B Neuropsychiatr Genet    2007	MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients		300005		CDC	2007												
151073		Familial Mediterranean Fever	IMMUNE	IMM	Familial Mediterranean Fever|Inflammation	16	16p13.3	MEFV	3232028	3246628		Kalyoncu, M.  et al. 2006	17067442				Mediterranean fever	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000243.1			CDC GDP info	4210	Hs.632221			Clin Exp Rheumatol    2006    24(5 Suppl 42)    S120-2	"Are carriers for MEFV mutations ""healthy"" ? "		608107		CDC	2006												
151083		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p34.2	MFSD2	40193396	40208215		Spinola, M.  et al. 2006	17145094				Major facilitator superfamily domain containing 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF370364	Caucasian;Italian;Norwegian;Asian		CDC GDP info	84879	Hs.655177			Lung Cancer    2006	Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival				CDC	2006												
151092		DNA adducts	OTHER	OTH		10	10q26	MGMT	131155455	131455358		Jiao, L.  et al. 2006	17158087				O-6-methylguanine-DNA methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002412.2			CDC GDP info	4255	Hs.501522			Mutat Res    2006	Polymorphisms of phase II xenobiotic-metabolizing and DNA repair genes and in vitro N-ethyl-N-nitrosourea-induced O(6)-ethylguanine levels in human lymphocytes		156569		CDC	2006	from this exploratory study need to be confirmed in other experimental systems.		smoking (tobacco)									
151105		spondyloarthropathies	IMMUNE	IMM	Spondylarthropathies|Autoimmune Diseases	6	6p21.3	MICA	31475539	31491069		Thomas, R.  et al. 2006	16720212				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1	Indian	India	CDC GDP info	4276	Hs.549053			Hum Immunol    2006    67(4-5)    318-23	Association of an Extended Haplotype of HLA Class I Alleles and Their Flanking Microsatellites with Spondyloarthropathies in South Indian Patients		600169		CDC	2006												
151108		ankylosing spondylitis	IMMUNE	IMM		6	6p21.3	MICA	31475539	31491069		Su, H.  et al. 2006	16883538				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    446-8	Disequilibrium linkage between the polymorphism in exons 2, 3 and 4 of the MICA gene and HLA-B antigen of patient with ankylosing spondylitis.		600169		CDC	2006	The increased frequency of MICA alleles may be due to its strong linkage disequilibrium with HLA-B27.											
151110		kidney transplant	INFECTION	INF	Cytomegalovirus Infections	6	6p21.3	MICA	31475539	31491069		Huang, B. S.  et al. 2006	16951502				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Zhong Nan Da Xue Xue Bao Yi Xue Ban    2006    31(4)    479-82	MICA*008/A5.1 allele and HCMV infection in kidney transplanted donees of Hunan Han nationality.		600169		CDC	2006	The individual whose genotype is MICA*008/A5.1 (+) is not liable to HCMV infection, but the individual whose genotype is MICA*008/A5.1 (-) is liable to HCMV infection.		cytomegalovirus									
151114	N	psoriasis psoriatic arthritis	IMMUNE	IMM	Arthritis, Psoriatic|Psoriasis|Genetic Predisposition to Disease	6	6p21.3	MICA	31475539	31491069		Chang, Y. T.  et al. 2007	17388919				MHC class I polypeptide-related sequence A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000247.1			CDC GDP info	4276	Hs.549053			Br J Dermatol    2007	Cytokine gene polymorphisms in Chinese patients with psoriasis		600169		CDC	2007	The IL-12B gene polymorphism conferred a risk for PV in our Chinese population, although the effect was more minor than that of HLA-Cw*0602. Cw*0602, KIR2DS1/S2 and MICA-A9 were unlikely to be risk alleles in our patients with PsA. The other analysed genetic polymorphisms of cytokine genes do not appear to be associated with susceptibility to PV and PsA in Chinese patients in Taiwan.											
151131		sarcoidosis	IMMUNE	IMM	Sarcoidosis	22	22q11.23	MIF	22566564	22567409		Plant, B. J.  et al. 2006	17005573				Macrophage migration inhibitory factor (glycosylation-inhibiting factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002415.1	Caucasian;Irish		CDC GDP info	4282	Hs.407995			Eur Respir J    2006	Sarcoidosis and a MIF gene polymorphism		153620		CDC	2006												
151141		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	3	3p14.2-p14.1	MITF	69871322	70100177		Koh, J. M.  et al. 2007	17464203				Microphthalmia-associated transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198159.1	Korean		CDC GDP info	4286	Hs.166017			Mol Cells    2007    23(2)    246-251	Microphthalmia-associated Transcription Factor Polymorphis and Association with Bone Mineral Density of the Proximal Femur in Postmenopausal Women		156845		CDC	2007												
151151	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	3	3p21.3	MLH1	37009982	37067341		Song, H.  et al. 2006	16774946				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		120436		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
151156		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	3	3p21.3	MLH1	37009982	37067341		Lamberti, C.  et al. 2006	17095871				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2		Germany	CDC GDP info	4292	Hs.195364			Digestion    2006    74(1)    58-67	Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany		120436		CDC	2006	After adjusting for the cases not evaluable for germline mutations, 1.											
151160		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Microsatellite Instability	3	3p21.3	MLH1	37009982	37067341		Lagerstedt Robinson, K.  et al. 2007	17312306				MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000249.2			CDC GDP info	4292	Hs.195364			J Natl Cancer Inst    2007    99(4)    291-9	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics		120436		CDC	2007	Our findings suggest that missense MMR gene mutations are common in HNPCC and that germline MMR mutations are also found in patients with MSI-negative tumors.											
151163	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	14	14q24.3	MLH3	74550219	74587988		Song, H.  et al. 2006	16774946				MutL homolog 3 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040108.1			CDC GDP info	27030	Hs.436650			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		604395		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
151171	N	tooth loss	OTHER	OTH	Tooth Loss|Genetic Predisposition to Disease	11	11q22.3	MMP1	102165860	102174104			16538639				Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Clin Lab Anal    2006    20(2)    47-51	Association of the OGG1 Ser326Cys polymorphism with tooth loss		120353		CDC	2006												
151180		endometrial cancer	CANCER	CAN	Endometrial Neoplasms	11	11q22.3	MMP1	102165860	102174104		Sugimoto, M.  et al. 2006	16990034			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			J Soc Gynecol Investig    2006	Matrix Metalloproteinase-1 and -9 Promoter Polymorphisms and Endometrial Carcinoma Risk in a Japanese Population		120353		CDC	2006	These results suggest that the MMP-9 -1562 C/T polymorphism may be associated with susceptibility to endometrioid carcinoma in the Japanese population.											
151184	Y	colorectal cancer	CANCER	CAN	Adenomatous Polyps|Colorectal Neoplasms	11	11q22.3	MMP1	102165860	102174104		Lievre, A.  et al. 2006	17125518			promoter	Matrix metallopeptidase 1 (interstitial collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002421.2			CDC GDP info	4312	Hs.83169			BMC Cancer    2006    6(1)    270	Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma		120353		CDC	2006	These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.											
151202		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms	11	11q22.3	MMP12	102238673	102250922		Kader, A. K.  et al. 2006	17178858				Matrix metallopeptidase 12 (macrophage elastase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002426.2	Caucasian	United States	CDC GDP info	4321	Hs.1695			Cancer Res    2006    66(24)    11644-8	Matrix metalloproteinase polymorphisms and bladder cancer risk		601046		CDC	2006			smoking (tobacco)									
151207		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	11	11q22.3	MMP13	102318933	102331672		Lei, H.  et al. 2006	17033924			promoter	Matrix metallopeptidase 13 (collagenase 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002427.2			CDC GDP info	4322	Hs.2936			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		600108		CDC	2006												
151211		chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	14	14q11-q12	MMP14	22375632	22386643			16525718				Matrix metallopeptidase 14 (membrane-inserted)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004995			CDC GDP info	4323	Hs.2399			Int J Mol Med    2006    17(4)    621-6	MMP14 gene polymorphisms in chronic obstructive pulmonary disease		600754		CDC	2006												
151215	Y	rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Nemec, P.  et al. 2006	16755991				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Vnitr Lek    2006    52(4)    348-54	Polymorphism of gene promotor region for MMP-2 in rheumatoid arthritis		120360		CDC	2006	The results indicate the association between polymorphisms in gene promotor region for MMP-2 and susceptibility to development of RA.											
151229		atrial fibrillation	CHEMDEPENDENCY	CHEM	Atrial Fibrillation|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Kato, K.  et al. 2007	17487426				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Int J Mol Med    2007    19(6)    933-9	Genetic factors for lone atrial fibrillation		120360		CDC	2007												
151231	N	Crohn's disease ulcerative colitis	IMMUNE	IMM	Colitis, Ulcerative|Crohn Disease|Genetic Predisposition to Disease	16	16q13-q21	MMP2	54070588	54098104		Meijer, M. J.  et al. 2007	17589947				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			World J Gastroenterol    2007    13(21)    2960-6	Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-alpha single nucleotide gene polymorphisms in inflammatory bowel disease		120360		CDC	2007	Allelic composition at the examined SNPs in genes coding for TIMP-1 and MMP-3 affect CD susceptibility and/or phenotype, i.e., fistulizing disease, stricture pathogenesis and first disease localisation. These findings reinforce the important role of these proteins in IBD.											
151246	Y	acute coronary syndrome	CARDIOVASCULAR	CARD	Coronary Disease|Hypertension|Diabetes Complications|Acute Disease|Genetic Predisposition to Disease	11	11q22.3	MMP3	102211737	102219552		Liu, P. Y.  et al. 2006	17027562				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Am J Cardiol    2006    98(8)    1012-1017	Genotype-Phenotype Association of Matrix Metalloproteinase-3 Polymorphism and Its Synergistic Effect With Smoking on the Occurrence of Acute Coronary Syndrome		185250		CDC	2006	the MMP-3 5A/6A polymorphism is significantly associated with the occurrence of acute coronary syndrome, MMP-3 activity, and severity of coronary atherosclerosis. There is a synergistic effect between smoking and this genetic risk factor for acute coronary syndrome.		smoking (tobacco)									
151255		Alzheimer's disease dementia white matter lesions	NEUROLOGICAL	NEUR		11	11q22.3	MMP3	102211737	102219552		Reitz, C.  et al. 2007	17316907				Matrix metallopeptidase 3 (stromelysin 1, progelatinase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002422.3			CDC GDP info	4314	Hs.375129			Neurobiol Aging    2007	Matrix metalloproteinase 3 haplotypes and dementia and Alzheimer's disease The Rotterdam Study		185250		CDC	2007												
151271	Y	brain cancer	CANCER	CAN	Astrocytoma|Brain Neoplasms|Genetic Predisposition to Disease	11	11q21-q22	MMP7	101896448	101906688		Lu, Z.  et al. 2006	16956593			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			Brain Res    2006	Association between the functional polymorphism in the matrix metalloproteinase-7 promoter and susceptibility to adult astrocytoma		178990		CDC	2006												
151274	N	nasopharyngeal cancer	CANCER	CAN	Nasopharyngeal Neoplasms|Genetic Predisposition to Disease	11	11q21-q22	MMP7	101896448	101906688		Zhou, G.  et al. 2007	17607721			promoter	Matrix metallopeptidase 7 (matrilysin, uterine)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002423.3			CDC GDP info	4316	Hs.2256			Hum Mutat    2007	Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma		178990		CDC	2007			smoking (tobacco)									
151278		gastric ulcer	INFECTION	INF	Helicobacter Infections|Stomach Ulcer|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607			16405530				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2		Germany	CDC GDP info	4318	Hs.297413			Am J Gastroenterol    2006    101(1)    29-35	Genetic variants in matrix metalloproteinase genes are associated with development of gastric ulcer in h. Pylori infection		120361		CDC	2006	The level of association found in this study is in agreement with the nature of a complex genetic disease.											
151296		breast cancer	CANCER	CAN	Breast Neoplasms|Disease Progression|Genetic Predisposition to Disease	20	20q11.2-q13.1	MMP9	44070953	44078607		Lei, H.  et al. 2006	17033924			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			Breast Cancer Res Treat    2006	Promoter polymorphisms in matrix metalloproteinases and their inhibitors		120361		CDC	2006												
151306		longevity myocardial infarct	CARDIOVASCULAR	CARD	Coronary Artery Disease|Myocardial Infarction|Inflammation	20	20q11.2-q13.1	MMP9	44070953	44078607		Nuzzo, D.  et al. 2006	17261792				Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2	Italian		CDC GDP info	4318	Hs.297413			Ann N Y Acad Sci    2006    1089    496-501	Role of Proinflammatory Alleles in Longevity and Atherosclerosis		120361		CDC	2006												
151315		brain cancer	CANCER	CAN	Astrocytoma|Brain Neoplasms	20	20q11.2-q13.1	MMP9	44070953	44078607		Lu, Z.  et al. 2007	17502998			promoter	Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004994.2			CDC GDP info	4318	Hs.297413			J Neurooncol    2007	Polymorphisms in the matrix metalloproteinase-1, 3, and 9 promoters and susceptibility to adult astrocytoma in northern China		120361		CDC	2007												
151328	N	lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	17	17q23.1	MPO	53702215	53713295		Park, J. H.  et al. 2006	16844322	MPO -463G>A			Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1	Korean		CDC GDP info	4353	Hs.458272			Cancer Detect Prev    2006	Myeloperoxidase -463G>A polymorphism and risk of primary lung cancer in a Korean population		606989		CDC	2006	These results suggest that the MPO -463G>A polymorphism does not significantly affect the susceptibility to lung cancer in Koreans.											
151352		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Maier, L. M.  et al. 2006	16750991				membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		147138		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
151355		atopy beta-lactam allergy	PHARMACOGENOMIC	PHARM	Drug Hypersensitivity|Genetic Predisposition to Disease	11	11q13	MS4A2	59612712	59622592		Guglielmi, L.  et al. 2006	16867043			promoter	membrane-spanning 4-domains, subfamily A, member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000139.2			CDC GDP info	2206	Hs.386748			Allergy    2006    61(8)    921-7	IL-10 promoter and IL4-Ralpha gene SNPs are associated with immediate beta-lactam allergy in atopic women		147138		CDC	2006	Our findings suggest that polymorphisms in the IL-10 promoter and IL-4Ralpha genes are genetic factors that favour beta-lactam immediate allergies in female patients with atopy.											
151363	N	ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Genetic Predisposition to Disease	2	2p22-p21	MSH2	47483766	47760014		Song, H.  et al. 2006	16774946				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1			CDC GDP info	4436	Hs.156519			Carcinogenesis    2006	Common variants in mismatch repair genes and risk of invasive ovarian cancer		120435		CDC	2006	it is unlikely that common variants in MLH1, MLH3, PMS1, MSH2, MSH3 and MSH6 contribute significantly to ovarian cancer susceptibility.											
151368		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	2	2p22-p21	MSH2	47483766	47760014		Lamberti, C.  et al. 2006	17095871				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Germany	CDC GDP info	4436	Hs.156519			Digestion    2006    74(1)    58-67	Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany		120435		CDC	2006	After adjusting for the cases not evaluable for germline mutations, 1.											
151371		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p22-p21	MSH2	47483766	47760014		Irmejs, A.  et al. 2007	17348456				MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000251.1		Latvia	CDC GDP info	4436	Hs.156519			Anticancer Res    2007    27(1B)    653-8	Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia		120435		CDC	2007	The role of the classical Amsterdam criteria in diagnosing HNPCC in CRC patients from Latvia is very limited and diagnostic criteria for suspected HNPCC are the most effective.											
151379		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Duodenal Neoplasms|Ileal Neoplasms|Jejunal Neoplasms|Neoplasms, Second Primary	2	2p16	MSH6	47863789	47887596		Park, J. G.  et al. 2006	16740762				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Clin Cancer Res    2006    12(11)    3389-93	Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer		600678		CDC	2006	In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens.											
151393	Y	cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Lip	4	4p16.3-p16.1	MSX1	4912292	4916561		Tongkobpetch, S.  et al. 2006	16868654				Msh homeo box homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002448.2	Thai;Vietnamese		CDC GDP info	4487	Hs.424414			J Hum Genet    2006	MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population		142983		CDC	2006												
151399		breast cancer	CANCER	CAN	Neoplasms|Breast Neoplasms|Neoplasm Metastasis|Genetic Predisposition to Disease	14	14q32.3	MTA1	104957230	105008102		Yu, J. C.  et al. 2006	16502042				Metastasis associated 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004689.2			CDC GDP info	9112	Hs.525629			J Biomed Sci    2006	Breast cancer risk associated with genotypic polymorphism of the genes involved in the estrogen-receptor-signaling pathway		603526		CDC	2006			age at first pregnancy body mass									
151409		ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR	Amyotrophic Lateral Sclerosis|Genetic Predisposition to Disease	1	1p33	MTF1	38047825	38097879		Morahan, J. M.  et al. 2007	17503480				Metal-regulatory transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005955			CDC GDP info	4520	Hs.471991			Am J Med Genet B Neuropsychiatr Genet    2007	Genetic susceptibility to environmental toxicants in ALS		600172		CDC	2007												
151442		pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia	1	1p36.3	MTHFR	11768373	11788702		Quintero-Ramos, A.  et al. 2006	16711541				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Gac Med Mex    2006    142(2)    95-8	Assessment of five thrombophilic genetic polymorphisms among couples with habitual abortion		607093		CDC	2006												
151455	Y	oxidative stress	METABOLIC	MET	Autistic Disorder	1	1p36.3	MTHFR	11768373	11788702		James, S. J.  et al. 2006	16917939				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Am J Med Genet B Neuropsychiatr Genet    2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism		607093		CDC	2006												
151458	Y	pregnancy loss, recurrent	REPRODUCTION	REP	Abortion, Habitual|Thrombophilia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Goodman, C. S.  et al. 2006	16938111				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Am J Reprod Immunol    2006    56(4)    230-6	Which Thrombophilic Gene Mutations are Risk Factors for Recurrent Pregnancy Loss?		607093		CDC	2006	A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.											
151462	Y	coke-oven toxicity	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Sun, Y. F.  et al. 2006	16986504				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Wei Sheng Yan Jiu    2006    35(4)    387-90	Association between methylenetetrahydrofolate reductase gene haplotypes and the susceptibility of chromosomal damage in coke-oven workers		607093		CDC	2006	The haplotypes of MTHFR gene might be one genetic susceptibility factors of PAH induced chromosomal damage in coke-oven workers.											
151473			NORMALVARIATION	NV		1	1p36.3	MTHFR	11768373	11788702		Lu, Y.  et al. 2006	17113562				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	Chinese;Caucasian;Indian;Singapore		CDC GDP info	4524	Hs.214142			Anal Biochem    2006	Genotyping of eight polymorphic genes encoding drug-metabolizing enzymes and transporters using a customized oligonucleotide array		607093		CDC	2006												
151477	Y	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction|Hypertension|Diabetes Mellitus, Type 2|Hypercholesterolemia|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Nishihama, K.  et al. 2007	17143557				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Int J Mol Med    2007    19(1)    129-41	Association of gene polymorphisms with myocardial infarction in individuals with or without conventional coronary risk factors		607093		CDC	2007			diabetes hypercholesterolemia hypertension									
151499		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Lissowska, J.  et al. 2007	17311260				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3		Poland	CDC GDP info	4524	Hs.214142			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		607093		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
151504		leukemia	CANCER	CAN		1	1p36.3	MTHFR	11768373	11788702		Giovannetti, E.  et al. 2007	17395259			promoter	Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Leuk Res    2007	Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemia		607093		CDC	2007												
151506		stomach cancer	CANCER	CAN	Stomach Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Wang, L.  et al. 2007	17438114				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Clin Cancer Res    2007    13(8)    2526-32	Polymorphisms of MTHFD, Plasma Homocysteine Levels, and Risk of Gastric Cancer in a High-Risk Chinese Population		607093		CDC	2007	The strong associations between MTHFD variants and the plasma tHcy levels and gastric cancer risk suggest, for the first time, a possible gene-environment interaction between genetic variants of folate-metabolizing genes and high tHcy levels in gastric carcinogenesis.		homocysteine									
151514	Y	homocysteine	METABOLIC	MET		1	1p36.3	MTHFR	11768373	11788702		Barbosa, P. R.  et al. 2007	17522601				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3	European		CDC GDP info	4524	Hs.214142			Eur J Clin Nutr    2007	Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinants for elevated total homocysteine concentrations in pregnant women		607093		CDC	2007	Serum folate and MTHFR C677T and MTR A2576G gene polymorphisms were the determinants for tHcy levels.		cobalamin folate									
151521		colorectal cancer	PHARMACOGENOMIC	PHARM		1	1p36.3	MTHFR	11768373	11788702		Ruzzo, A.  et al. 2007	17549067				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		607093		CDC	2007			5-flurouracil Irinotecan									
151526		breast cancer	CANCER	CAN	Breast Neoplasms	1	1p36.3	MTHFR	11768373	11788702		Yu, C. P.  et al. 2007	17595805				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Anticancer Res    2007    27(3B)    1727-32	Breast cancer risk associated with multigenotypic polymorphisms in folate-metabolizing genes		607093		CDC	2007	The present study indicates the significance of multiple low-penetrance alleles of functionally-related folate-metabolizing genes interactive with an estrogenic environment in breast tumorigenesis.											
151557		Leigh syndrome	NEUROLOGICAL	NEUR	Leigh Disease|Optic Atrophy|Wolff-Parkinson-White Syndrome			MT-ND5				Ruiter, E. M.  et al. 2006	17106447				mitochondrially encoded NADH dehydrogenase 5				CDC GDP info	4540				Eur J Hum Genet    2006	The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White		516005		CDC	2006	the m.											
151565		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1q43	MTR	235025340	235130583			16407418				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		156570		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
151568		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Mostowska, A.  et al. 2006	16712703				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Clin Genet    2006    69(6)    512-7	Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population		156570		CDC	2006												
151574	N	preterm delivery small-for-gestational age	REPRODUCTION	REP	Premature Birth|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Engel, S. M.  et al. 2006	17074544				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Am J Obstet Gynecol    2006    195(5)    1231.e1-11	Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small-for-gestational age birth		156570		CDC	2006	Our results suggest the possibility of a direct or indirect role for the SHMT1(1420)T variant in spontaneous preterm or SGA births.		folate									
151579	N	thrombosis, deep vein	CARDIOVASCULAR	CARD	Venous Thrombosis|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Yu, H.  et al. 2006	17160942				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(6)    635-9	Study on the association of polymorphisms in homocysteine metabolism related enzymes with deep venous thrombosis.		156570		CDC	2006	The homozygote of MTHFR C677T (TT) may be a risk factor of DVT.											
151583		homocysteine	METABOLIC	MET		1	1q43	MTR	235025340	235130583		Bathum, L.  et al. 2007	17412799				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Clin Chem    2007	Genetic and Environmental Influences on Plasma Homocysteine		156570		CDC	2007	Homocysteine concentrations have a high heritability that decreases with age.											
151584	Y	bipolar disorder schizophrenia	PSYCH	PSY	Bipolar Disorder|Schizophrenia	1	1q43	MTR	235025340	235130583		Kempisty, B.  et al. 2007	17417062				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Psychiatr Genet    2007    17(3)    177-81	MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia		156570		CDC	2007	Since MTHFD and MTR genes are located in 14q24 and 1q43 loci, our findings support the significance of chromosomes 14q and 1q in etiopathogenesis of bipolar disorder and schizophrenia.											
151592	N	atrial fibrillation homocysteine	CHEMDEPENDENCY	CHEM		1	1q43	MTR	235025340	235130583		Giusti, B.  et al. 2007	17551576				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			PLoS ONE    2007    2    e495	Role of C677T and A1298C MTHFR, A2756G MTR and -786 C/T eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility		156570		CDC	2007	Our data demonstrated the four polymorphisms, although able, at least in part, to affect Hcy, were not associated with an increased risk of NVAF per se or in combination.											
151598	N	stomach cancer	CANCER	CAN	Colorectal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	1	1q43	MTR	235025340	235130583		Ruzzo, A.  et al. 2007	17617021				5-methyltetrahydrofolate-homocysteine methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000254.1			CDC GDP info	4548	Hs.498187			Clin Chem Lab Med    2007    45(7)    822-828	Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer		156570		CDC	2007	This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.											
151608		chromosomal damage	OTHER	OTH	DNA Damage	5	5p15.3-p15.2	MTRR	7922216	7954235		Ishikawa, H.  et al. 2006	16580699				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Mutat Res    2006	A polymorphism of the methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers		602568		CDC	2006			smoking (tobacco)									
151612	N	rheumatoid arthritis	PHARMACOGENOMIC	PHARM	Arthritis, Rheumatoid	5	5p15.3-p15.2	MTRR	7922216	7954235		Wessels, J. A.  et al. 2006	16947783				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Arthritis Rheum    2006    54(9)    2830-2839	Relationship between genetic variants in the adenosine pathway and outcome of methotrexate treatment in patients with recent-onset rheumatoid arthritis		602568		CDC	2006	Polymorphisms in the AMPD1, ATIC, and ITPA genes are associated with good clinical response to MTX treatment.		methotrexate									
151618		leukemia	CANCER	CAN		5	5p15.3-p15.2	MTRR	7922216	7954235		Gast, A.  et al. 2006	17136115				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Leukemia    2006	Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia		602568		CDC	2006												
151621		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	5	5p15.3-p15.2	MTRR	7922216	7954235		Moore, L. E.  et al. 2007	17311259				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		602568		CDC	2007			diet									
151625		leukemia	CANCER	CAN		5	5p15.3-p15.2	MTRR	7922216	7954235		Petra, B. G.  et al. 2007	17454638				5-methyltetrahydrofolate-homocysteine methyltransferase reductase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002454.1			CDC GDP info	4552	Hs.481551			Leuk Lymphoma    2007    48(4)    786-92	Gene - gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children		602568		CDC	2007												
151661		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	1	1p34.3-p32.1	MUTYH	45567500	45578729		Moreno, V.  et al. 2006	16609022				MutY homolog (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012222.1			CDC GDP info	4595	Hs.271353			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		604933		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
151670	Y	hepatitis B	INFECTION	INF	Hepatitis B, Chronic	21	21q22.3	MX1	41714311	41753008		Yin, S. C.  et al. 2006	16792864	-88 G/T			Myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002462.2			CDC GDP info	4599	Hs.517307			Zhonghua Gan Zang Bing Za Zhi    2006    14(6)    418-21	MxA gene-88 G/T polymorphism influences the outcomes of HBV infection.		147150		CDC	2006	MxA gene -88 G/T polymorphism influences the natural outcomes of HBV infection to some extent. This SNP of MxA gene may be used as a clinical prognostic marker of HBV infection.											
151682		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Adenocarcinoma|Colorectal Neoplasms|Neoplasms, Multiple Primary	17	17p13.1	MYH1	10336348	10362584		Kim, J. C.  et al. 2007	17252231				Myosin, heavy polypeptide 1, skeletal muscle, adult	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005963	Korean		CDC GDP info	4619	Hs.231581			Virchows Arch    2007	MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas		160730		CDC	2007												
151686		left ventricular wall thickness	CARDIOVASCULAR	CARD	Mitochondrial Myopathies|Hypertrophy, Left Ventricular|Cardiomyopathy, Hypertrophic|Lipid Metabolism, Inborn Errors	3	3p21.3-p21.2	MYL3	46874360	46879977		Morita, H.  et al. 2006	16754800				Myosin, light polypeptide 3, alkali; ventricular, skeletal, slow	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000258.1		United States	CDC GDP info	4634	Hs.517939			Circulation    2006	Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community. The Framingham Heart Study		160790		CDC	2006	In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.											
151697	N	celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	19	19p13.1	MYO9B	17047595	17185104		Cirillo, G.  et al. 2007	17267307				Myosin IXB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209997	Swedish;Italian;Norwegian	Italy	CDC GDP info	4650	Hs.123198			Dig Liver Dis    2007	Do MYO9B genetic variants predispose to coeliac disease? An association study in a cohort of South Italian children		602129		CDC	2007	The MYO9B gene rs 2305764 polymorphism is not associated to coeliac disease in coeliac children from Southern Italy.											
151702	Y	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q23-q24	MYOC	169871179	169888396		Rose, R.  et al. 2007	17417611				Myocilin, trabecular meshwork inducible glucocorticoid response	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000261.1	Indian		CDC GDP info	4653	Hs.436037			Mol Vis    2007    13    497-503	Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India		601652		CDC	2007	The presence of the mutations in the patients suggests the causative role of the MYOC gene among POAG patients in the Kanyakumari district of India.											
151708	Y	cardiomyopathy	CARDIOVASCULAR	CARD	Cardiomyopathy, Hypertrophic	4	4q26-q27	MYOZ2	120276468	120328385		Osio, A.  et al. 2007	17347475				Myozenin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016599			CDC GDP info	51778	Hs.381047			Circ Res    2007	Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy		605602		CDC	2007												
151716		colon polyps	CANCER	CAN	Colonic Polyps|Genetic Predisposition to Disease	8	8p23.1-p21.3	NAT1	18111894	18125100		Goode, E. L.  et al. 2006	16926176				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4	Caucasian		CDC GDP info	9	Hs.591847			Carcinogenesis    2006	Inherited variation in carcinogen-metabolizing enzymes and risk of colorectal polyps		108345		CDC	2006			meat smoking (tobacco)									
151717		colorectal cancer	CANCER	CAN	Adenoma|Colorectal Neoplasms	8	8p23.1-p21.3	NAT1	18111894	18125100		Moslehi, R.  et al. 2006	16981843				N-acetyltransferase 1 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000662.4			CDC GDP info	9	Hs.591847			Pharmacogenomics    2006    7(6)    819-829	Cigarette smoking, N-acetyltransferase genes and the risk of advanced colorectal adenoma.		108345		CDC	2006	Our study indicated that NAT2 gene variants associated with a slow acetylator phenotype were more susceptible to the effects of tobacco smoking with respect to adenoma risk, providing leads for disease prevention.		smoking (tobacco)									
151725	N	colorectal cancer	CANCER	CAN		8	8p22	NAT2	18293034	18303003		Chen, K.  et al. 2005	16471212				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Zhonghua Liu Xing Bing Xue Za Zhi    2005    26(9)    659-64	A case-control study on the association between genetic polymorphisms of metabolic enzymes and the risk of colorectal cancer		243400		CDC	2005	CYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis.											
151730		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Chang, T. W.  et al. 2006	16713266				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Breast    2006	Glutathione S-transferase polymorphisms associated with risk of breast cancer in southern Taiwan		243400		CDC	2006												
151736	P		NORMALVARIATION	NV		8	8p22	NAT2	18293034	18303003			17025166				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1	Moscow		CDC GDP info	10	Hs.2			Genetika    2006    42(8)    1143-50	Comparative analysis of N-acetylation polymorphism in humans as determined by phenotyping and genotyping		243400		CDC	2006												
151747	Y	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	8	8p22	NAT2	18293034	18303003		Ochs-Balcom, H. M.  et al. 2007	17535831				N-acetyltransferase 2 (arylamine N-acetyltransferase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000015.1			CDC GDP info	10	Hs.2			Am J Epidemiol    2007	A Meta-Analysis of the Association of N-Acetyltransferase 2 Gene (NAT2) Variants with Breast Cancer		243400		CDC	2007			aromatic amines heterocyclic amines meat smoking (tobacco)									
151762	N	nicotine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Opioid-Related Disorders|Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23.1	NCAM1	112337204	112654368		Gelernter, J.  et al. 2006	17085484				Neural cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000615.4	European		CDC GDP info	4684	Hs.503878			Hum Mol Genet    2006	Haplotype Spanning TTC12 and ANKK1, Flanked By the DRD2 and NCAM1 Loci, is Strongly Associated to Nicotine Dependence in Two Distinct American Populations		116930		CDC	2006	a risk locus for ND, important both in AAs and EAs, maps to a region that spans TTC12 and ANKK1.											
151776		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	18	18p11.31-p11.2	NDUFV2	9092724	9124336		Swerdlow, R. H.  et al. 2006	16784756				NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021074.1		Virginia	CDC GDP info	4729	Hs.464572			J Neurol Sci    2006	Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease		600532		CDC	2006												
151780		nephropathy, IgA	RENAL	REN	Glomerulonephritis, IGA|Genetic Predisposition to Disease	6	6p21.3	NEU1	31934930	31938662		Li, G. S.  et al. 2007	17480010			promoter	Sialidase 1 (lysosomal sialidase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209011			CDC GDP info	4758	Hs.520037			Hum Mutat    2007	Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy		608272		CDC	2007												
151787	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	5	5q23-q31	NEUROG1	134897870	134899538		Fanous, A. H.  et al. 2006	17044100				Neurogenin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006161	Irish		CDC GDP info	4762	Hs.248149			Am J Med Genet B Neuropsychiatr Genet    2006	Association between the 5q31.1 gene neurogenin1 and schizophrenia		601726		CDC	2006												
151795	N	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	4	4q24	NFKB1	103641517	103757507		Martinez, A.  et al. 2006	16441485				Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003998.2	Spanish;Danish	Spain	CDC GDP info	4790	Hs.431926			Tissue Antigens    2006    67(2)    143-5	NFkappaB1 gene does not affect type 1 diabetes predisposition in a Spanish population		164011		CDC	2006												
151809	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	14	14q13	NFKBIA	34940467	34943695		Carlson, C. S.  et al. 2006	17115186				Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020529.1			CDC GDP info	4792	Hs.81328			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		164008		CDC	2006												
151834		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	17		NLRP1	5343470	5345038		Macaluso, F.  et al. 2007	17620097				NLR family, pyrin domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=			CDC GDP info	22861	Hs.104305			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis		606636		CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151838		dermatitis and eczema	IMMUNE	IMM	Dermatitis, Atopic	1	1q44	NLRP3	245646097	245679029		Macaluso, F.  et al. 2007	17620097				NLR family, pyrin domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004895			CDC GDP info	114548	Hs.159483			Exp Dermatol    2007    16(8)    692-8	Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis				CDC	2007	variation in individual genes from the NLR family as well as interactions within this group of innate immune receptor genes could play a role in AD pathogenesis.											
151843	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Disease|Genetic Predisposition to Disease	7	7p15-p14	NOD1	30430674	30484790		El Mokhtari, N. E.  et al. 2006	16893397				caspase recruitment domain family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK023969	German		CDC GDP info	10392	Hs.405153			Int J Immunogenet    2006    33(4)    307-311	A functional variant in the CARD4 gene and risk of premature coronary heart disease		605980		CDC	2006												
151855	N	pouchitis	OTHER	OTH	Pouchitis|Chronic Disease|Recurrence	16	16p12-q21	NOD2	49288550	49324488		Lammers, K.  et al. 2005	16437636				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930	Caucasian;Italian		CDC GDP info	64127	Hs.135201			World J Gastroenterol    2005    11(46)    7323-9	Combined carriership of TLR9-1237C and CD14-260T alleles enhances the risk of developing chronic relapsing pouchitis		605956		CDC	2005	There is no evidence that the SNPs predispose to the need for IPAA surgery.											
151886		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Rioux, J. D.  et al. 2007	17435756				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Nat Genet    2007	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis		605956		CDC	2007												
151896	N	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	16	16p12-q21	NOD2	49288550	49324488		Latiano, A.  et al. 2007	17600378				caspase recruitment domain family, member 15	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF178930			CDC GDP info	64127	Hs.135201			Inflamm Bowel Dis    2007	Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease		605956		CDC	2007	No significant difference for the PTPN22 and NFkB1 variants was found.											
151902		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	12	12q24.2-q24.31	NOS1	116135361	116283965		Li, C.  et al. 2007	17328085				Nitric oxide synthase 1 (neuronal)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000620.1	non-Hispanic		CDC GDP info	4842	Hs.253420			Cancer    2007	Polymorphisms of the neuronal and inducible nitric oxide synthase genes and the risk of cutaneous melanoma		163731		CDC	2007	Genetic variants of nNOS, but not iNOS, may be biomarkers for susceptibility to CM, and the risk of CM associated with sunburns and moles may be modulated by nNOS variant genotypes.		moles sunburn									
151918		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Hancock, D. B.  et al. 2006	16823855				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Ann Neurol    2006	NOS2A and the modulating effect of cigarette smoking in Parkinson's disease		163730		CDC	2006			smoking (tobacco)									
151922		suicide	PSYCH	PSY		17	17q11.2-q12	NOS2A	23107918	23151682		Rujescu, D.  et al. 2006	16964084				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3			CDC GDP info	4843	Hs.462525			Psychiatr Danub    2006    18(Suppl-1)    121	HTR2C, HTR1A, NOS-I AND NOS-III GENE VARIANTS IN GERMAN AND ITALIAN SUICIDE ATTEMPTERS AND COMPLETERS		163730		CDC	2006												
151927		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	17	17q11.2-q12	NOS2A	23107918	23151682		Schulte, C.  et al. 2006	17159127				Nitric oxide synthase 2A (inducible, hepatocytes)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000625.3	German		CDC GDP info	4843	Hs.462525			Neurology    2006    67(11)    2080-2	Comprehensive association analysis of the NOS2A gene with Parkinson disease		163730		CDC	2006												
151960	N	bone density	METABOLIC	MET	Osteoporosis|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609			16520888				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Osteoporos Int    2006	ALDH2 polymorphisms and bone mineral density in an elderly Japanese population		163729		CDC	2006	The present results suggest that active prophylactic interventions such as dietary, exercise, and pharmacological therapies should be offered to non-carriers of the Glu allele (Lys/Lys).											
151966	N	diabetes, type 2 retinopathy, diabetic	METABOLIC	MET	Diabetic Retinopathy|Diabetes Mellitus, Type 2	7	7q36	NOS3	150319079	150342609		de Syllos, R. W.  et al. 2006	16581274				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nitric Oxide    2006	Endothelial nitric oxide synthase genotype and haplotype are not associated with diabetic retinopathy in diabetes type 2 patients		163729		CDC	2006												
151968	N	atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease	7	7q36	NOS3	150319079	150342609		Jaramillo, P. C.  et al. 2006	16616056				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Chim Acta    2006	Endothelial nitric oxide synthase G894T gene polymorphism in Chilean subjects with coronary artery disease and controls		163729		CDC	2006	These findings suggest that the G894T polymorphism of the eNOS gene was not associated with CAD in Chilean individuals.											
151975	Y	atrial fibrillation	CARDIOVASCULAR	CARD	Atrial Fibrillation|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Fatini, C.  et al. 2006	16760206				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Eur Heart J    2006	Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation		163729		CDC	2006	Our findings suggest a role for minK and eNOS genes as predisposing factors to NVAF.											
151996		sickle cell anemia	HEMATOLOGICAL	HEM		7	7q36	NOS3	150319079	150342609		Chaar, V.  et al. 2006	16891187				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Haematologica    2006	ET-1 and ecNOS gene polymorphisms and susceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia		163729		CDC	2006												
152002		inflammatory markers	PHARMACOGENOMIC	PHARM		7	7q36	NOS3	150319079	150342609		Souza-Costa, D. C.  et al. 2006	16938300				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			Atherosclerosis    2006	Anti-inflammatory effects of atorvastatin		163729		CDC	2006			atorvastatin									
152011		pulmonary artery pressure	CARDIOVASCULAR	CARD	Pulmonary Edema|Genetic Predisposition to Disease|Altitude Sickness	7	7q36	NOS3	150319079	150342609		Smith, E. M.  et al. 2006	16978134				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Caucasian		CDC GDP info	4846	Hs.511603			High Alt Med Biol    2006    7(3)    221-7	Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude		163729		CDC	2006												
152016		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Cardiovascular Diseases|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Casas, J. P.  et al. 2006	17018701				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Am J Epidemiol    2006	Endothelial Nitric Oxide Synthase Gene Polymorphisms and Cardiovascular Disease		163729		CDC	2006												
152023	Y	Behcet's disease	IMMUNE	IMM	Behcet Syndrome|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Oksel, F.  et al. 2006	17067432	NOS3 Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Clin Exp Rheumatol    2006    24(5 Suppl 42)    S079-82	Endothelial nitric oxide synthase gene Glu298Asp polymorphism is associated with Behcet's disease		163729		CDC	2006												
152026	Y	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Albuminuria|Diabetes Mellitus, Type 1	7	7q36	NOS3	150319079	150342609		Mollsten, A.  et al. 2006	17101543	Glu/Glu-genotype of the NOS3 Glu298Asp			Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Swedish;Caucasian; Finnish		CDC GDP info	4846	Hs.511603			Ann Med    2006    38(7)    522-8	Glu298Asp and NOS4ab polymorphisms in diabetic nephropathy		163729		CDC	2006	The Glu/Glu-genotype of the NOS3 Glu298Asp polymorphism may increase the risk of developing DN independently of other known risk factors.											
152034		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	7	7q36	NOS3	150319079	150342609		Lan, Q.  et al. 2006	17149600				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		163729		CDC	2006												
152039		preeclampsia	REPRODUCTION	REP	Pre-Eclampsia	7	7q36	NOS3	150319079	150342609		Goddard, K. A.  et al. 2006	17179726				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Hum Hered    2006    63(1)    1-16	Candidate-Gene Association Study of Mothers with Pre-Eclampsia, and Their Infants, Analyzing 775 SNPs in 190 Genes		163729		CDC	2006												
152043	Y	preterm delivery	REPRODUCTION	REP	Cerebral Palsy|Premature Birth|Infant, Premature, Diseases	7	7q36	NOS3	150319079	150342609		Gibson, C. S.  et al. 2007	17267840				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603		South Australia	CDC GDP info	4846	Hs.511603			Obstet Gynecol    2007    109(2)    384-391	Genetic Polymorphisms and Spontaneous Preterm Birth		163729		CDC	2007	We confirm previous observations that variants of the beta adrenergic receptor and of nitric oxide synthase are associated with prematurity, and suggest that genetic variants of the placental antifibrinolytic plasminogen activator inhibitor-2, and thrombomodulin and alpha adducin may be contributors to risk of spontaneous preterm birth. LEVEL OF EVIDENCE: II											
152049		kidney failure, chronic polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant|Disease Progression	7	7q36	NOS3	150319079	150342609		Tazon-Vega, B.  et al. 2007	17303584				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	European		CDC GDP info	4846	Hs.511603			Nephrol Dial Transplant    2007	Study of candidate genes affecting the progression of renal disease in autosomal dominant polycystic kidney disease type 1		163729		CDC	2007	Our results discard the most prominent functional genes suggested to date, to have a major effect on ADPKD progression in this cohort.											
152059	Y	angina, unstable	CARDIOVASCULAR	CARD	Angina, Unstable	7	7q36	NOS3	150319079	150342609		Iturry-Yamamoto, G. R.  et al. 2007	17401490				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603	Brazilian		CDC GDP info	4846	Hs.511603			Braz J Med Biol Res    2007    40(4)    475-83	Association of the 894G>T polymorphism of the endothelial constitutive nitric oxide synthase gene with unstable angina		163729		CDC	2007												
152063		body mass hypertension	METABOLIC	MET	Hypertension|Obesity	7	7q36	NOS3	150319079	150342609		Barath, A.  et al. 2007	17444275				Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Acta Physiol Hung    2007    94(1-2)    49-66	Endothelin-1 gene and endothelial nitric oxide synthase gene polymorphisms in adolescents with juvenile and obesity-associated hypertension		163729		CDC	2007												
152066		kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic	7	7q36	NOS3	150319079	150342609		Bellini, M. H.  et al. 2007	17498125			Intron	Nitric oxide synthase 3 (endothelial cell)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000603			CDC GDP info	4846	Hs.511603			Nephrology (Carlton)    2007    12(3)    289-93	Association of endothelial nitric oxide synthase gene intron 4 polymorphism with end-stage renal disease		163729		CDC	2007	This study showed a strong correlation between eNOS4a polymorphism and end-stage renal disease.											
152082	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822			16538185				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3		Japan	CDC GDP info	4855	Hs.436100			Psychiatr Genet    2006    16(2)    77-9	Genetic association between Notch4 polymorphisms and Japanese schizophrenics		164951		CDC	2006												
152086		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	NOTCH4	32270597	32299822		Tochigi, M.  et al. 2006	17192952				Notch homolog 4 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004557.3			CDC GDP info	4855	Hs.436100			Am J Med Genet B Neuropsychiatr Genet    2006	Association study between the TNXB locus and schizophrenia in a Japanese population		164951		CDC	2006												
152105	Y	leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute	5	5q35	NPM1	170746724	170770493		Thiede, C.  et al. 2006	16455956				Nucleophosmin (nucleolar phosphoprotein B23, numatrin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002520.5			CDC GDP info	4869	Hs.557550			Blood    2006	Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML)		164040		CDC	2006	NPM1 mutations represent a common genetic abnormality in adult AML.											
152128	Y	diabetes, type 2 ghrelin insulin	METABOLIC	MET	Hypertension|Diabetes Mellitus, Type 2	7	7p15.1	NPY	24290333	24298002		Ukkola, O.  et al. 2007	17268419				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2	European		CDC GDP info	4852	Hs.1832			Eur J Clin Nutr    2007	Leu7Pro polymorphism of PreproNPY associated with an increased risk for type II diabetes in middle-aged subjects		162640		CDC	2007	The PreproNPY Pro7 allele is associated with an increased risk for type II diabetes.											
152131		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders|Schizophrenia	7	7p15.1	NPY	24290333	24298002		Hall, H.  et al. 2007	17366345				Neuropeptide Y	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000905.2			CDC GDP info	4852	Hs.1832			World J Biol Psychiatry    2007    8(1)    12-22	Potential genetic variants in schizophrenia		162640		CDC	2007												
152136	Y	obesity	METABOLIC	MET	Obesity	4	4q31	NPY2R	156349230	156357678		Siddiq, A.  et al. 2007	17235527				Neuropeptide Y receptor Y2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000910.2			CDC GDP info	4887	Hs.37125			Diabetologia    2007	Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects		162642		CDC	2007	 These results provide evidence of association for NPY2R and PYY gene variants with obesity and none for PPY variants. A rare variant of the NPY2R gene showed evidence of co-segregation with obesity and its contribution to obesity should be investigated further.											
152154	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	16	16q22.1	NQO1	68300804	68318034		Fong, C. S.  et al. 2006	17188257				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			Clin Chim Acta    2006	Pesticide exposure on southwestern Taiwanese with MnSOD and NQO1 polymorphisms is associated with increased risk of Parkinson's disease		125860		CDC	2006	Susceptible variants of MnSOD and NQO1 genes may interact with occupational pesticide exposure to increase PD risk in southwestern Taiwanese.		pesticide									
152160		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	16	16q22.1	NQO1	68300804	68318034		Yang, M.  et al. 2007	17428572				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2	Korean		CDC GDP info	1728	Hs.406515			Lung Cancer    2007	Combined effects of genetic polymorphisms in six selected genes on lung cancer susceptibility		125860		CDC	2007												
152166	Y	urothelial cancer	CANCER	CAN		16	16q22.1	NQO1	68300804	68318034		Wang, Y. H.  et al. 2007	17619904				NAD(P)H dehydrogenase, quinone 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000903.2			CDC GDP info	1728	Hs.406515			J Cancer Res Clin Oncol    2007	Human NAD(P)H		125860		CDC	2007	These findings suggest that NQO1 and SULT1A1 polymorphisms are associated with the risk of UC, particularly among those who have ever smoked.		smoking (tobacco)									
152170	N	atherosclerosis, coronary hyperlipidemia	CARDIOVASCULAR	CARD	Coronary Artery Disease|Hyperlipidemia, Familial Combined|Dyslipidemias	12	12q23.1	NR1H4	99391809	99481774		Nohara, A.  et al. 2007	17272748				Nuclear receptor subfamily 1, group H, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC035654			CDC GDP info	9971	Hs.282735			Arterioscler Thromb Vasc Biol    2007	High Frequency of a Retinoid X Receptor {gamma} Gene Variant in Familial Combined Hyperlipidemia That Associates With Atherogenic Dyslipidemia				CDC	2007	These findings suggest that RXRgamma contributes to the genetic background of FCHL.											
152201		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid|Acute Disease	1	1p13.2	NRAS	115051107	115061038		Ritter, M.  et al. 2004	15531466				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDP info	4893	Hs.486502			Haematologica    2004    89(11)    1397-9	Prognostic significance of N-RAS and K-RAS mutations in 232 patients with acute myeloid leukemia		164790		CDC	2004												
152202	Y	melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms	1	1p13.2	NRAS	115051107	115061038		Thomas, N. E.  et al. 2007	17507627				Neuroblastoma RAS viral (v-ras) oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007553.1			CDC GDP info	4893	Hs.486502			Cancer Epidemiol Biomarkers Prev    2007    16(5) 	Number of Nevi and Early-Life Ambient UV Exposure Are Associated with BRAF-Mutant Melanoma		164790		CDC	2007			radiation, ultraviolet									
152217		psychosis	PSYCH	PSY	Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Rosa, A.  et al. 2007	17503451				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1	Spanish;European;Icelandic;Asian		CDC GDP info	3084	Hs.453951			Am J Med Genet B Neuropsychiatr Genet    2007	Family-based association study of neuregulin-1 gene and psychosis in a Spanish sample		142445		CDC	2007												
152219	Y	schizophrenia	PSYCH	PSY		8	8p21-p12	NRG1	31616809	32741615		Benzel, I.  et al. 2007	17598910				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			Behav Brain Funct    2007    3(1)    31	Interactions among genes in the ErbB-Neuregulin signalling network are associated with increased susceptibility to schizophrenia		142445		CDC	2007	These new findings suggest that observed associations between NRG1 and schizophrenia may be mediated through functional interaction not just with ERBB4, but with other members of the NRG and ERBB families.			NRG1		ERBB4						
152225	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	2	2q33.3	NRP2	206255468	206371102		Wu, S.  et al. 2007	17427189				Neuropilin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL833606			CDC GDP info	8828	Hs.471200			Am J Med Genet B Neuropsychiatr Genet    2007	Association of the neuropilin-2 (NRP2) gene polymorphisms with autism in Chinese Han population		602070		CDC	2007												
152231	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder|Genetic Predisposition to Disease	9	9q22.1	NTRK2	86473285	86828325		Beuten, J.  et al. 2006	16713586				Neurotrophic tyrosine kinase, receptor, type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001007097.1	African American;European		CDC GDP info	4915	Hs.494312			Biol Psychiatry    2006	Association of Specific Haplotypes of Neurotrophic Tyrosine Kinase Receptor 2 Gene (NTRK2) with Vulnerability to Nicotine Dependence in African-Americans and European-Americans		600456		CDC	2006	These results strongly suggest that NTRK2 is a susceptibility gene for ND.											
152259		benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease	3	3p26.2	OGG1	9765704	9783342		Zhang, Z. B.  et al. 2006	16600130				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(3)    134-8	Relationship between genetic polymorphism in hMTH1c.83, hOGG1c.326 and hMYHc.335 and risks of chronic benzene poisoning.		601982		CDC	2006	Polymorphisms of hMTH1 Val83 Met and hOGG1 Ser326Cys may contribute to altered risks of CBP, and potential interaction may exist among polymorphisms of hOGG1 Ser326Cys and hMYH His335Gln.		smoking (tobacco)									
152273	N	bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Huang, M.  et al. 2007	17220334				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Cancer Epidemiol Biomarkers Prev    2007    16(1)    84-91	High-Order Interactions among Genetic Variants in DNA Base Excision Repair Pathway Genes and Smoking in Bladder Cancer Susceptibility		601982		CDC	2007	we did not find an association between any single BER gene single nucleotide polymorphism and bladder cancer risk.		smoking (tobacco)									
152276		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Adenocarcinoma|Colorectal Neoplasms|Neoplasms, Multiple Primary	3	3p26.2	OGG1	9765704	9783342		Kim, J. C.  et al. 2007	17252231				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Korean		CDC GDP info	4968	Hs.380271			Virchows Arch    2007	MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas		601982		CDC	2007												
152282	Y	glaucoma, primary open-angle	VISION	VIS	Ocular Hypertension|Glaucoma, Open-Angle	19	19p13.2	OLFM2	9825393	9908070		Funayama, T.  et al. 2006	17122126	OLFM2  Arg144Gln			Olfactomedin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=CR612883			CDC GDP info	93145	Hs.169743			Invest Ophthalmol Vis Sci    2006    47(12)    5368-75	SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma				CDC	2006	The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.			OLFM2	OLFM2 The Arg144Gln	OPTN						
152301		CYP2D6 activity CYP3A4 activity	PHARMACOGENOMIC	PHARM		6	6q24-q25	OPRM1	154402135	154609693		Funck-Brentano, C.  et al. 2005	16315033				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Eur J Clin Pharmacol    2005    61(11)    821-9	Measurement of CYP2D6 and CYP3A4 activity in vivo with dextromethorphan		600018		CDC	2005	Dextromethorphan can be used for CYP2D6 phenotyping, but the CYP2D6 and CYP3A4 metabolic ratios are not strictly independent one from each other.		dextromethorphan									
152315	Y	heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	6	6q24-q25	OPRM1	154402135	154609693		Zhang, D.  et al. 2006	17157823				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2			CDC GDP info	4988	Hs.2353			Biol Psychiatry    2006	Effect of mu-Opioid Receptor Gene Polymorphisms on Heroin-Induced Subjective Responses in a Chinese Population		600018		CDC	2006	Self-reported positive responses on first use of heroin were found to be associated with OPRM1. The findings suggest that heroin-induced positive responses are likely associated with more heroin consumption.											
152322		Alzheimer's disease cognitive function	NEUROLOGICAL	NEUR	Alzheimer Disease|Cognition Disorders	9	9p13.3	OPRS1	34624718	34627768		Maruszak, A.  et al. 2007	17457031				Opioid receptor, sigma 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005866.2	Polish		CDC GDP info	10280	Hs.522087			Dement Geriatr Cogn Disord    2007    23(6)    332-338	Sigma Receptor Type 1 Gene Variation in a Group of Polish Patients with Alzheimer's Disease and Mild Cognitive Impairment		601978		CDC	2007												
152324	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	1	1q32.1	OPTC	201729893	201744700		Kumar, A.  et al. 2007	17563717				Opticin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014359	Indian		CDC GDP info	26254	Hs.632468			Mol Vis    2007    13    667-76	Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma				CDC	2007	This is the first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients.											
152328	Y	glaucoma	VISION	VIS	Glaucoma	10	10p13	OPTN	13181454	13220282		Sripriya, S.  et al. 2006	16885925				Optineurin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001008211.1	Indian		CDC GDP info	10133	Hs.332706			Mol Vis    2006    12    816-20	OPTN gene		602432		CDC	2006	The current study suggests a possible role of SNPs rather than mutations in OPTN in POAG pathology in the Indian population.											
152340		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		3	3p25	OXTR	8767094	8786300		Comings, D. E.  et al. 2000	11140838				Oxytocin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000916.3			CDC GDP info	5021	Hs.2820			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		167055		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
152345	Y	tuberculosis	INFECTION	INF	Tuberculosis|Genetic Predisposition to Disease	12	12q24	P2RX7	120055060	120108241		Fernando, S. L.  et al. 2006	17095747	P2RX7 1513C allele			Purinergic receptor P2X, ligand-gated ion channel, 7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002562.4			CDC GDP info	5027	Hs.507102			Am J Respir Crit Care Med    2006	A Polymorphism in the P2X7 Gene Increases Susceptibility to Extrapulmonary Tuberculosis		602566		CDC	2006	The 1513C allele increases susceptibility to extrapulmonary TB, and this defect is associated with$$$ the reduction in the capacity of macrophages to kill M.											
152360		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	5	5q31	P4HA2	131556202	131591455		Silverberg, M. S.  et al. 2007	17213842				Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004199	Ashkenazi;Jewish		CDC GDP info	8974	Hs.519568			Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		600608		CDC	2007												
152380		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease	6	6q25.2-q27	PARK2	161689661	163068790		Hertz, J. M.  et al. 2006	16643317				Parkinson disease (autosomal recessive, juvenile) 2, parkin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004562.1	Danish		CDC GDP info	5071	Hs.132954			Eur J Neurol    2006    13(4)    385-90	Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease		602544		CDC	2006	homozygous, or compound heterozygous PARK2 mutations, and mutations in GCH1 and TH, are rare even in a population of PD patients with early-onset of the disease.											
152392		benign breast disease breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414			16328064				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Oncol Rep    2006    15(1)    247-52	Polymorphisms of ADPRT Val762Ala and XRCC1 Arg399Glu and risk of breast cancer in Chinese women		173870		CDC	2006												
152396	N	benzene toxicity	PHARMACOGENOMIC	PHARM	Chronic Disease|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Sun, P.  et al. 2006	16889694				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi    2006    24(7)    385-9	Relationship of genetic polymorphism in APE1 and ADPRT to risks of chronic benzene poisoning.		173870		CDC	2006	The genetic polymorphisms in APE1Asp148Glu, ADPRTVal762Ala are not related to the risk of BP.											
152400	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	1	1q41-q42	PARP1	224615128	224662414		Infante, J.  et al. 2007	17290104				Poly (ADP-ribose) polymerase family, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001618.2			CDC GDP info	142	Hs.177766			Dement Geriatr Cogn Disord    2007    23(4)    215-218	Interaction between Poly(ADP-Ribose) Polymerase 1 and Interleukin 1A Genes Is Associated with Alzheimer's Disease Risk		173870		CDC	2007				IL1A		PARP1						
152409		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms|Genetic Predisposition to Disease	13	13q11	PARP4	23893068	23984948		Li, C.  et al. 2007	17614107				Poly (ADP-ribose) polymerase family, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF158255	non-Hispanic		CDC GDP info	143	Hs.591227			Cancer    2007	Genetic polymorphisms in DNA base-excision repair genes ADPRT, XRCC1, and APE1 and the risk of squamous cell carcinoma of the head and neck		607519		CDC	2007			alcohol smoking (tobacco)									
152411		Henoch-Schonlein purpura nephritis	CARDIOVASCULAR	CARD	Nephritis|Purpura, Schoenlein-henoch	10	10q24	PAX2	102495321	102579688		Yi, Z. W.  et al. 2006	16509931				Paired box gene 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_003988			CDC GDP info	5076	Hs.155644			Nephrology (Carlton)    2006    11(1)    42-8	Role of PAX2 gene polymorphisms in Henoch-Schonlein purpura nephritis		167409		CDC	2006	The 1410CT/1521AC PAX2 genotype does not increase susceptibility for HSP, but is likely to increase the susceptibility of kidney involvement, resulting in a HSPN diagnosis.											
152424	N	kidney failure, chronic	RENAL	REN	Kidney Failure, Chronic|Insulin Resistance	7	7q22.2	PBEF1	105675967	105712874		Axelsson, J.  et al. 2007	17261426				Pre-B-cell colony enhancing factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005746			CDC GDP info	10135	Hs.489615			Am J Kidney Dis    2007    49(2)    237-44	Circulating levels of visfatin/pre-B-cell colony-enhancing factor 1 in relation to genotype, GFR, body composition, and survival in patients with CKD				CDC	2007												
152428	N	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	20	20q13.31	PCK1	55569542	55574922		Wegner, L.  et al. 2006	16978381				Phosphoenolpyruvate carboxykinase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002591.2	Canadian;CaucDanish		CDC GDP info	5105	Hs.1872			Diabet Med    2006    23(10)    1140-4	Large-scale study of the -232C > G polymorphism of PCK1 in Type 2 diabetes		261680		CDC	2006	The PCK1-232C > G polymorphism is not a major contributor to the pathogenesis of Type 2 diabetes in the Danish population.											
152432		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	20	20pter-p12	PCNA	5043598	5055268		Moreno, V.  et al. 2006	16609022				Proliferating cell nuclear antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002592.2			CDC GDP info	5111	Hs.147433			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		176740		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
152435		hypercholesterolemia	METABOLIC	MET	Hyperlipoproteinemia Type II	1	1p32.3	PCSK9	55277807	55303111		Pisciotta, L.  et al. 2006	16183066				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			Atherosclerosis    2006    186(2)    433-40	Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia		607786		CDC	2006												
152439	Y	atherosclerosis, coronary cholesterol	CARDIOVASCULAR	CARD		1	1p32.3	PCSK9	55277807	55303111		Humphries, S. E.  et al. 2006	16801348				Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			J Med Genet    2006	Genetic causes of Familial Hypercholesterolaemia in UK patients		607786		CDC	2006	The higher CHD risk in patients carrying PCSK9 p.											
152443	Y	cholesterol heart disease, ischemic	METABOLIC	MET	Coronary Disease|Hyperlipoproteinemia Type II|Genetic Predisposition to Disease	1	1p32.3	PCSK9	55277807	55303111		Scartezini, M.  et al. 2007	17550346	PCSK9 gene R46L			Proprotein convertase subtilisin/kexin type 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_174936.2			CDC GDP info	255738	Hs.18844			Clin Sci (Lond)    2007	The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in UK healthy men		607786		CDC	2007												
152448		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Wang, S. C.  et al. 2006	17024563				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			J Clin Immunol    2006	Programmed Death-1 Gene Polymorphisms in Patients With Systemic Lupus Erythematosus in Taiwan		600244		CDC	2006												
152458	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Hiromine, Y.  et al. 2007	17570250				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1			CDC GDP info	5133	Hs.158297			Metabolism    2007    56(7)    905-9	Trinucleotide repeats of programmed cell death-1 gene are associated with susceptibility to type 1 diabetes mellitus		600244		CDC	2007												
152470	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Genetic Predisposition to Disease	5	5q12	PDE4D	58301611	59819647		Fidani, L.  et al. 2007	17594329				Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006203.3	Greek		CDC GDP info	5144	Hs.591763			Eur J Neurol    2007    14(7)    745-9	Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population		600129		CDC	2007												
152477		Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	10	10q22-q26.3	PDLIM1	96987319	97040771		Silverberg, M. S.  et al. 2007	17213842				PDZ and LIM domain 1 (elfin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK091847	Ashkenazi;Jewish		CDC GDP info	9124	Hs.368525			Eur J Hum Genet    2007	Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease		605900		CDC	2007												
152487	N	renal scarring urinary tract infection	RENAL	REN	Urinary Tract Infections	17	17q23	PECAM1	59753594	59817743			16426244				Platelet/endothelial cell adhesion molecule (CD31 antigen)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000442.2			CDC GDP info	5175	Hs.514412			Int J Immunogenet    2006    33(1)    49-53	Association between ICAM-1 Gly-Arg polymorphism and renal parenchymal scarring following childhood urinary tract infection		173445		CDC	2006												
152515		breast cancer	CANCER	CAN	Breast Neoplasms	11	11q22-q23	PGR	100414312	100506465		Fernandez, L. P.  et al. 2006	16477637				Progesterone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000926.2	Spanish;European;Asian	Spain	CDC GDP info	5241	Hs.368072			Int J Cancer    2006    119(2)    467-71	Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk		607311		CDC	2006												
152531		colorectal cancer	CANCER	CAN	Adenoma|Adenomatous Polyposis Coli|Colorectal Neoplasms, Hereditary Nonpolyposis|Liver Neoplasms|Neoplasm Invasiveness	3	3q26.3	PIK3CA	180349004	180435191		Miyaki, M.  et al. 2007	17546593				Phosphoinositide-3-kinase, catalytic, alpha polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006218.2			CDC GDP info	5290	Hs.642725			Int J Cancer    2007	Mutations of the PIK3CA gene in hereditary colorectal cancers		171834		CDC	2007												
152538		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	1	1p36	PINK1	20832534	20850591		Toft, M.  et al. 2007	17172567				PTEN induced putative kinase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_032409.1	Norwegian		CDC GDP info	65018	Hs.389171			J Neurol Neurosurg Psychiatry    2007    78(1)    82-4	PINK1 mutation heterozygosity and the risk of Parkinson's disease		608309		CDC	2007	PINK1 mutations are rare in Norwegian patients with EOP and familial Parkinson\s disease. However, the data suggest that some heterozygous mutations might increase the risk of developing Parkinson\s disease.											
152546		polycystic kidney disease	RENAL	REN	Polycystic Kidney, Autosomal Dominant	16	16p13.3	PKD1	2078711	2125900		Garcia-Gonzalez, M. A.  et al. 2007	17574468				Hypothetical protein LOC339047	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001009944.1			CDC GDP info	5310	Hs.75813			Mol Genet Metab    2007	Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease		601313		CDC	2007												
152570	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q24	PLAU	75340895	75347261		Ozturk, A.  et al. 2006	16967469				Plasminogen activator, urokinase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002658.2			CDC GDP info	5328	Hs.77274			Am J Med Genet B Neuropsychiatr Genet    2006	Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits		191840		CDC	2006												
152575		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23	PLCE1	95743735	96078138		Morgan, A. R.  et al. 2007	17373700				Phospholipase C, epsilon 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016341			CDC GDP info	51196	Hs.655033			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		608414		CDC	2007												
152587	Y	bone density	METABOLIC	MET		1	1p36.3-p36.2	PLOD1	11917332	11958181		Tasker, P. N.  et al. 2006	16758144				Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000302.2	Scottish		CDC GDP info	5351	Hs.75093			Osteoporos Int    2006    17(7)    1078-85	Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK		153454		CDC	2006												
152590	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Spastic Paraplegia, Hereditary|Disease Progression|Genetic Predisposition to Disease	X	Xq22	PLP1	102918409	102934203		Deluca, G. C.  et al. 2007	17420921				proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000533.3			CDC GDP info	5354	Hs.1787			J Neurol    2007	The role of hereditary spastic paraplegia related genes in multiple sclerosis		300401		CDC	2007												
152595	Y	body mass	PHARMACOGENOMIC	PHARM	Obesity|Genetic Predisposition to Disease|Weight Gain|Psychotic Disorders|Schizophrenia	12	12q23-q24	PMCH	101114366	101115744		Chagnon, Y. C.  et al. 2007	17541984				Pro-melanin-concentrating hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BG216766			CDC GDP info	5367	Hs.694729			Am J Med Genet B Neuropsychiatr Genet    2007	Possible association of the pro-melanin-concentrating hormone gene with a greater body mass index as a side effect of the antipsychotic olanzapine		176795		CDC	2007			olanzapine									
152599		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Duodenal Neoplasms|Ileal Neoplasms|Jejunal Neoplasms|Neoplasms, Second Primary	7	7p22.2	PMS2	5977082	6015263		Park, J. G.  et al. 2006	16740762				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4			CDC GDP info	5395	Hs.632637			Clin Cancer Res    2006    12(11)    3389-93	Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer		600259		CDC	2006	In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens.											
152602		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Genetic Predisposition to Disease|Microsatellite Instability	7	7p22.2	PMS2	5977082	6015263		Lagerstedt Robinson, K.  et al. 2007	17312306				PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000535.4			CDC GDP info	5395	Hs.632637			J Natl Cancer Inst    2007    99(4)    291-9	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics		600259		CDC	2007	Our findings suggest that missense MMR gene mutations are common in HNPCC and that germline MMR mutations are also found in patients with MSI-negative tumors.											
152607		weight loss	PHARMACOGENOMIC	PHARM	Obesity|Weight Loss	17	17q21-q22	PNMT	35078032	35080254		Vazquez Roque, M. I.  et al. 2007	17544870				Phenylethanolamine N-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002686.2			CDC GDP info	5409	Hs.1892			Clin Gastroenterol Hepatol    2007	Alteration of Gastric Functions and Candidate Genes Associated With Weight Reduction in Response to Sibutramine		171190		CDC	2007	Weight reduction with sibutramine is associated with$$$ altered gastric functions and increased peptide YY and is significantly associated with SLC6A4 genotype.		sibutramine									
152611		colorectal cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Colorectal Neoplasms	8	8p11.2	POLB	42315186	42348470		Moreno, V.  et al. 2006	16609022				Polymerase (DNA directed), beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002690.1			CDC GDP info	5423	Hs.521563			Clin Cancer Res    2006    12(7)    2101-8	Polymorphisms in genes of nucleotide and base excision repair		174760		CDC	2006	Although the overall effect of DNA repair genes in colorectal cancer etiology seems limited, their influence in the response to chemotherapy and prognosis may be more relevant.		chemotherapy									
152618		azoospermia oligospermia	REPRODUCTION	REP	Infertility, Male	15	15q25	POLG	87660552	87679030		Harris, T. P.  et al. 2006	16487403				Polymerase (DNA directed), gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002693.1			CDC GDP info	5428	Hs.592016			Int J Androl    2006	Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men		174763		CDC	2006												
152626	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	5	5q13	POLK	74843336	74930889		Michiels, S.  et al. 2007	17494052				Polymerase (DNA directed) kappa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC041798	Caucasian		CDC GDP info	51426	Hs.135756			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers				CDC	2007												
152629		obesity	METABOLIC	MET	Metabolic Syndrome X|Obesity|Weight Loss	2	2p23.3	POMC	25237225	25245063		Santoro, N.  et al. 2006	16682835				Proopiomelanocortin (adrenocorticotropin/ beta-lipotropin/ alpha-melanocyte stimulating hormone/ beta-melanocyte stimulating hormone/ beta-endorphin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001035256.1	Italian		CDC GDP info	5443	Hs.1897			J Endocrinol Invest    2006    29(3)    226-30	Weight loss in obese children carrying the proopiomelanocortin R236G variant		176830		CDC	2006												
152634	Y	myocardial infarct stroke, ischemic	CARDIOVASCULAR	CARD	Cerebrovascular Accident|Myocardial Infarction|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Baum, L.  et al. 2006	16472799	PON1 192R+			Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Clin Biochem    2006	Paraoxonase 1 gene Q192R polymorphism affects stroke and myocardial infarction risk		168820		CDC	2006	PON1 192R+ genotypes were associated with stroke and MI, particularly in subsets of patients, in patterns suggesting a possible survivor effect.		hypertension smoking (tobacco)									
152640	Y	hyperglycemia hypertension, pregnancy induced preterm delivery	REPRODUCTION	REP	Pregnancy Complications|Hypertension, Pregnancy-Induced|Premature Birth|Hyperglycemia|Birth Weight	7	7q21.3	PON1	94764923	94791780		Lawlor, D. A.  et al. 2006	16629699				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3		Great Britain	CDC GDP info	5444	Hs.370995			Paediatr Perinat Epidemiol    2006    20(3)    244-50	The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy		168820		CDC	2006												
152655	Y	paraoxinase 1 activity	CARDIOVASCULAR	CARD	Atherosclerosis	7	7q21.3	PON1	94764923	94791780		Li, W. F.  et al. 2006	16882531				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Environ Health Perspect    2006    114(8)    1233-6	Lead Exposure Is Associated with Decreased Serum Paraoxonase 1 (PON1) Activity and Genotypes		168820		CDC	2006			lead									
152661		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	7	7q21.3	PON1	94764923	94791780		Cellini, E.  et al. 2006	16996683				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Italian		CDC GDP info	5444	Hs.370995			Neurosci Lett    2006	Association analysis of the paraoxonase-1 gene with Alzheimer's disease		168820		CDC	2006												
152668	Y	Parkinson's disease	NEUROLOGICAL	NEUR	Parkinson Disease|Genetic Predisposition to Disease	7	7q21.3	PON1	94764923	94791780		Duric, G.  et al. 2007	17304721				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Vojnosanit Pregl    2007    64(1)    25-30	Polymorphisms in the genes of citohrom oxidase P450 2D6 (CYP2D6), paraoxonase 1 (PON1) and apolipoproteine E (APOE) as risk factors for Parkinson's disease		168820		CDC	2007	The results of our study suggest that the genotypes A/A and M/M genes of CYP2D6 and PON1, and allele epsilon4 gene are an important risk for the development of PD, causing its early onset. The cumulative effects of the risk genes cause an early onset of PD.											
152675		betaine choline creatinine cystathionine cysteine dimethyglycine folate homocysteine methionine methylmalonic acid vitamin B12 vitamin B2 vitamin B6	METABOLIC	MET	Metabolic Diseases	7	7q21.3	PON1	94764923	94791780		Fredriksen, A.  et al. 2007	17436311				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3			CDC GDP info	5444	Hs.370995			Hum Mutat    2007	Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism		168820		CDC	2007												
152698	N	intima media thickness	CARDIOVASCULAR	CARD	Atherosclerosis|Hyperlipoproteinemia Type II	7	7q21.3	PON2	94872109	94902320		Roest, M.  et al. 2006	16926679				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Eur J Cardiovasc Prev Rehabil    2006    13(3)    464-6	Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia		602447		CDC	2006	Our findings suggest that variation at the PON-1 locus contributes to early atherosclerosis in children with familial hypercholesterolaemia.											
152701		atherosclerosis, coronary	CARDIOVASCULAR	CARD		7	7q21.3	PON2	94872109	94902320		Chi, D. S.  et al. 2006	17299970				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Zhonghua Liu Xing Bing Xue Za Zhi    2006    27(9)    808-13	Study of the association between paraoxonase1 55 Met/Leu, paraoxonase2 148 Ala/Gly and manganese superoxide dismutase (MnSOD) 9 Ala/Val genetic polymorphisms and coronary heart disease		602447		CDC	2006	The antioxidative ability decreased, while lipid superoxide increased in CHD patients.											
152706	N	stroke	CARDIOVASCULAR	CARD		7	7q21.3	PON2	94872109	94902320		Xu, H.  et al. 2007	17557249				Paraoxonase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000305.2			CDC GDP info	5445	Hs.530077			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2007    24(3)    328-30	Relationship between single nucleotide polymorphisms of paraoxonase 2 and stroke.		602447		CDC	2007	C311S polymorphism of PON2 has no significant correlation with stroke in Han people of Chinese Hunan area and allele C/S is not an independent risk factor for stroke,neither is G148A.											
152715	Y	physical performance	NORMALVARIATION	NV		22	22q12-q13.1	PPARA	44925162	45018317		Ahmetov, I. I.  et al. 2006	16506057				peroxisome proliferative activated receptor, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001001928.2	Russian	Russia	CDC GDP info	5465	Hs.103110			Eur J Appl Physiol    2006	PPARalpha gene variation and physical performance in Russian athletes		170998		CDC	2006	PPARalpha intron 7 G/C polymorphism was associated with physical performance in Russian athletes, and this may be explained, in part, by the association between PPARalpha genotype and muscle fiber type composition.											
152756		longevity	AGING	AGE	Inflammation	3	3p25	PPARG	12304348	12450855		Capri, M.  et al. 2006	16803995				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712	Italian		CDC GDP info	5468	Hs.162646			Ann N Y Acad Sci    2006    1067    252-63	The genetics of human longevity		601487		CDC	2006												
152776	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3p25	PPARG	12304348	12450855		Lyssenko, V.  et al. 2005	17570749				Peroxisome proliferative activated receptor, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138712			CDC GDP info	5468	Hs.162646			PLoS Med    2005    2(12)    e345	Genetic prediction of future type 2 diabetes		601487		CDC	2005	We demonstrate in a large prospective study that variants in the PPARG and CAPN10 genes predict future T2D.		body mass glucose									
152803		HIV	INFECTION	INF	Acquired Immunodeficiency Syndrome|Disease Progression|Genetic Predisposition to Disease	7		PPIA	44802765	44809241		An, P.  et al. 2007	17590083				Peptidylprolyl isomerase A (cyclophilin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021130.3	African American;European		CDC GDP info	5478	Hs.356331			PLoS Pathog    2007    3(6)    e88	Regulatory Polymorphisms in the Cyclophilin A Gene, PPIA, Accelerate Progression to AIDS		123840		CDC	2007												
152812	N	cervical cancer	CANCER	CAN	Uterine Cervical Neoplasms	11	11q23.2	PPP2R1B	111102841	111142379		Yeh, L. S.  et al. 2007	17343570				Protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002716.3			CDC GDP info	5519	Hs.584790			Int J Gynecol Cancer    2007	Mutation analysis of the tumor suppressor gene PPP2R1B in human cervical cancer		603113		CDC	2007	PPP2R1B genes may not play a role in the carcinogenesis of cervical cancer.											
152821		familial hemophagocytic lymphohistiocytosis	IMMUNE	IMM	Lymphohistiocytosis, Hemophagocytic|Genetic Predisposition to Disease	10	10q22	PRF1	72027109	72032520		Busiello, R.  et al. 2006	16611257				Perforin 1 (pore forming protein)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005041.3	Italian		CDC GDP info	5551	Hs.2200			Int J Immunogenet    2006    33(2)    123-5	A91V perforin variation in healthy subjects and FHLH patients		170280		CDC	2006												
152826	Y	diabetes, type 2 insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	1	1p31	PRKAA2	56883607	56946709		Horikoshi, M.  et al. 2006	16567511				Protein kinase, AMP-activated, alpha 2 catalytic subunit	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006252			CDC GDP info	5563	Hs.591439			Diabetes    2006    55(4)    919-23	A Polymorphism in the AMPK{alpha}2 Subunit Gene Is Associated With Insulin Resistance and Type 2 Diabetes in the Japanese Population		600497		CDC	2006												
152834		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	8	8q11	PRKDC	48848221	49035296		Hirata, H.  et al. 2006	17196815				Protein kinase, DNA-activated, catalytic polypeptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006904.6			CDC GDP info	5591	Hs.491682			Eur J Cancer    2006	Polymorphisms of DNA repair genes are risk factors for prostate cancer		600899		CDC	2006												
152840	N	infertility, male	REPRODUCTION	REP	Infertility, Male|Genetic Predisposition to Disease	16	16p13.2	PRM1	11282193	11282693		Aoki, V. W.  et al. 2006	16989827				Protamine 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002761.1		Utah	CDC GDP info	5619	Hs.2909			Fertil Steril    2006	Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility		182880		CDC	2006	A number of SNPs are present in the testis-specific nuclear protein genes. However, the gene variants do not appear to underlie protamine deficiency and severe male infertility.											
152861		blood pressure, arterial sepsis	CARDIOVASCULAR	CARD		2	2q13-q14	PROC	127892486	127903288		Binder, A.  et al. 2007	17569089			promoter	Protein C (inactivator of coagulation factors Va and VIIIa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000312.2	German		CDC GDP info	5624	Hs.224698			Hum Genet    2007	Protein C promoter polymorphisms associate with sepsis in children with systemic meningococcemia		176860		CDC	2007												
152874		protein S	HEMATOLOGICAL	HEM		3	3q11.2	PROS1	95074646	95175395		Kimura, R.  et al. 2006	16961608				Protein S (alpha)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000313.1		Japan	CDC GDP info	5627	Hs.64016			J Thromb Haemost    2006    4(9)    2010-3	Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers		176880		CDC	2006	Plasma PS activity itself is not suitable for identifying PS 196E carriers and other methods are required for carrier detection.											
152877		Leber congenital amaurosis/LCA retinal dystrophy Usher syndrome	VISION	VIS	Retinal Degeneration|Retinitis Pigmentosa	6	6p21.2-p12.3	PRPH2	42772315	42798287		Mezer, E.  et al. 2006	16767206				Peripherin 2 (retinal degeneration, slow)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX640679			CDC GDP info	5961	Hs.654489			Can J Ophthalmol    2006    41(2)    190-6	Utility of molecular testing for related retinal dystrophies		179605		CDC	2006												
152887		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	14	14q24.3	PSEN1	72672931	72756862		Bertram, L.  et al. 2007	17192785				Presenilin 1 (Alzheimer disease 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000021.2			CDC GDP info	5663	Hs.592324			Nat Genet    2007    39(1)    17-23	Systematic meta-analyses of Alzheimer disease genetic association studies		104311		CDC	2007	odds ratios (ranging from 1.											
152890		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q31-q42	PSEN2	225125582	225150422		Scacchi, R.  et al. 2007	17412506				Presenilin 2 (Alzheimer disease 4)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000447.1			CDC GDP info	5664	Hs.25363			Neurosci Lett    2007	A mutation screening by DHPLC of PSEN1 and APP genes reveals no significant variation associated with the sporadic late-onset form of Alzheimer's disease		600759		CDC	2007												
152910	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23.3	PTEN	89613174	89718512		Hamilton, G.  et al. 2006	16574322				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Neurosci Lett    2006	Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease		601728		CDC	2006												
152916		endometriosis	REPRODUCTION	REP	Endometriosis	10	10q23.3	PTEN	89613174	89718512		Treloar, S. A.  et al. 2007	17563403				Phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000314.3			CDC GDP info	5728	Hs.500466			Mol Hum Reprod    2007	Variants in EMX2 and PTEN do not contribute to risk of endometriosis		601728		CDC	2007												
152919	N	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	14	14q22.1	PTGDR	51804180	51813192		Kim, S. H.  et al. 2007	17496729				Prostaglandin D2 receptor (DP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000953.2			CDC GDP info	5729	Hs.306831			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		604687		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152925	Y	asthma asthma, aspirin-intolerant	IMMUNE	IMM	Asthma	1	1p31.2	PTGER3	71090623	71286079		Kim, S. H.  et al. 2007	17496729				Prostaglandin E receptor 3 (subtype EP3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198715			CDC GDP info	5733	Hs.445000			Pharmacogenet Genomics    2007    17(4)    295-304	Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma		176806		CDC	2007	These findings suggest that genetic polymorphisms in PTGER2, PTGER3, PTGER4, PTGIR, and TBXA2R play important roles in the pathogenesis of aspirin-intolerant asthma.											
152970	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Tan, W.  et al. 2006	17151091				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1			CDC GDP info	5743	Hs.196384			Carcinogenesis    2006	Associations of functional polymorphisms in cyclooxygenase-2 and platelet 12-lipoxygenase with risk of occurrence and advanced disease status of colorectal cancer		600262		CDC	2006												
152984		breast cancer	CANCER	CAN	Adenocarcinoma|Breast Neoplasms|Genetic Predisposition to Disease	1	1q25.2-q25.3	PTGS2	184907591	184916179		Gao, J.  et al. 2007	17479405				Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000963.1		China	CDC GDP info	5743	Hs.196384			J Toxicol Environ Health A    2007    70(11)    908-15	Functional polymorphisms in the cyclooxygenase 2 (COX-2) gene and risk of breast cancer in a Chinese population		600262		CDC	2007												
152992	N	bone density	METABOLIC	MET		11	11p15.3-p15.1	PTH	13470176	13474143		Zhong, N.  et al. 2006	16677544				Parathyroid hormone	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000315.2			CDC GDP info	5741	Hs.37045			Zhonghua Yi Xue Za Zhi    2006    86(6)    376-9	Relationship between polymorphism of parathyroid hormone and bone mineral density and relevant biochemical indicators in women		168450		CDC	2006	PTH gene polymorphism has no relationship with bone mass and serum bone biochemical markers in normal females.											
153002	Y	atherosclerosis, diabetic	CARDIOVASCULAR	CARD	Coronary Disease|Calcinosis|Diabetes Mellitus, Type 2|Insulin Resistance	20	20q13.1-q13.2	PTPN1	48560297	48634493		Burdon, K. P.  et al. 2006	16505227				Protein tyrosine phosphatase, non-receptor type 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002827.2	Caucasian		CDC GDP info	5770	Hs.417549			Diabetes    2006    55(3)    651-8	Association of protein tyrosine phosphatase-n1 polymorphisms with coronary calcified plaque in the diabetes heart study		176885		CDC	2006												
153011	Y	myasthenia gravis	IMMUNE	IMM	Myasthenia Gravis|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Vandiedonck, C.  et al. 2006	16437561				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	French		CDC GDP info	26191	Hs.535276			Ann Neurol    2006    59(2)    404-407	Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis		600716		CDC	2006												
153017		immunoglobulin A deficiency	IMMUNE	IMM	IgA Deficiency|Autoimmune Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857			16539704				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			BMC Med Genet    2006    7(1)    25	A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population		600716		CDC	2006	The result obtained seems to reinforce the consideration of IgA deficiency as a primary immunodeficiency rather than an autoimmune disease.											
153035		diabetes, type 1 thyroid disease, autoimmune	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Thyroiditis, Autoimmune	1	1p13.3-p13.1	PTPN22	114157960	114215857		Ikegami, H.  et al. 2006	17130532				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3	Japanese;Caucasian;Asian	Japan	CDC GDP info	26191	Hs.535276			Ann N Y Acad Sci    2006    1079    51-59	Genetics of Type 1 Diabetes		600716		CDC	2006												
153047		rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Kallberg, H.  et al. 2007	17436241				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Am J Hum Genet    2007    80(5)    867-75	Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis		600716		CDC	2007			smoking (tobacco)									
153053	N	Crohn's disease ulcerative colitis	PHARMACOGENOMIC	PHARM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	1	1p13.3-p13.1	PTPN22	114157960	114215857		Latiano, A.  et al. 2007	17600378				Protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015967.3			CDC GDP info	26191	Hs.535276			Inflamm Bowel Dis    2007	Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease		600716		CDC	2007	No significant difference for the PTPN22 and NFkB1 variants was found.											
153061		cleft lip with cleft palate cleft lip without cleft palate	DEVELOPMENTAL	DEV	Cleft Palate|Cleft Lip	11	11q23	PVRL1	119014017	119104645		Scapoli, L.  et al. 2006	16674562				Hypothetical protein MGC16207	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002855.4	Italian	Italy	CDC GDP info	5818	Hs.334846			Ann Hum Genet    2006    70(Pt 3)    410-3	Study of the PVRL1 Gene in Italian Nonsyndromic Cleft Lip Patients with or without Cleft Palate		600644		CDC	2006												
153068		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	17	17q21.1	PYY	39385632	39437363		Campbell, C. D.  et al. 2007	17325259				Peptide YY	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004160.3	European		CDC GDP info	5697	Hs.169249			Diabetes    2007	Association studies of body mass index and type 2 diabetes in the Neuropeptide Y pathway		600781		CDC	2007												
153069	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	2	2p22.2	QPCT	37425256	37453969		Yamada, Y.  et al. 2007	17334644				Glutaminyl-peptide cyclotransferase (glutaminyl cyclase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_012413.3		Japan	CDC GDP info	25797	Hs.79033			Int J Mol Med    2007    19(4)    675-83	Association of gene polymorphisms with blood pressure and the prevalence of hypertension in community-dwelling Japanese individuals		607065		CDC	2007												
153076		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Dufloth, R. M.  et al. 2005	16475125				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Genet Mol Res    2005    4(4)    771-82	DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil		179617		CDC	2005			family history									
153079	N	prostate cancer	CANCER	CAN	Prostatic Neoplasms	15	15q15.1	RAD51	38774660	38811646		Damaraju, S.  et al. 2006	16638864				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Clin Cancer Res    2006    12(8)    2545-54	Association of DNA repair and steroid metabolism gene polymorphisms with clinical late toxicity in patients treated with conformal radiotherapy for prostate cancer		179617		CDC	2006	In this study, we identified SNPs in LIG4, ERCC2, and CYP2D6 genes as putative markers to predict individuals at risk for complications arising from radiation therapy in prostate cancer.											
153084		leukemia, myeloid	CANCER	CAN	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Neoplasms, Second Primary|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Jawad, M.  et al. 2006	16902145				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Blood    2006	Polymorphisms in human homeobox HLX1 and DNA repair RAD51 genes increase the risk of therapy-related acute myeloid leukemia		179617		CDC	2006												
153086		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Costa, S.  et al. 2006	17063276				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Breast Cancer Res Treat    2006	DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility		179617		CDC	2006			family history									
153089		bladder cancer	CANCER	CAN	Carcinoma, Transitional Cell|Urinary Bladder Neoplasms|Genetic Predisposition to Disease	15	15q15.1	RAD51	38774660	38811646		Figueroa, J. D.  et al. 2007	17557904				RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002875.2			CDC GDP info	5888	Hs.631709			Carcinogenesis    2007	Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk		179617		CDC	2007	from this study provide evidence for associations between variants in genes in the DSBR pathway and bladder cancers risk that warrant replication in other study populations.											
153104	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q32.2	RANBP5	97403929	97474551		Liu, L. B.  et al. 2007	17458142				RAN binding protein 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002271		China	CDC GDP info	3843	Hs.643743			Biomed Environ Sci    2007    20(1)    52-5	Is KPNB3 locus associated with schizophrenia?				CDC	2007	The present study provides further evidence in support of the KPNB3 association with schizophrenia in Chinese population.											
153108	N	lung cancer	CANCER	CAN	Adenocarcinoma|Lung Neoplasms|Genetic Predisposition to Disease	12	12p12.3	RASSF8	26003235	26124092		Falvella, F. S.  et al. 2006	17194498				Ras association (RalGDS/AF-6) domain family 8	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY665468	Norwegian		CDC GDP info	11228	Hs.696433			Lung Cancer    2006	Common polymorphisms in D12S1034 flanking genes RASSF8 and BHLHB3 are not associated with lung adenocarcinoma risk				CDC	2006												
153119		pancreatic cancer	CANCER	CAN	Carcinoma, Pancreatic Ductal|Pancreatic Neoplasms	12	12p12	RECQL	21513964	21545796			16540687				RecQ protein-like (DNA helicase Q1-like)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=L36140			CDC GDP info	5965	Hs.235069			Cancer Res    2006    66(6)    3323-30	Significant effect of homologous recombination DNA repair gene polymorphisms on pancreatic cancer survival		600537		CDC	2006												
153134		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	10	10q11.2	RET	42892522	42945803		Korpershoek, E.  et al. 2006	17102080				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		164761		CDC	2006												
153138		thyroid cancer	CANCER	CAN	Carcinoma, Medullary|Multiple Endocrine Neoplasia Type 2a|Multiple Endocrine Neoplasia Type 2b|Thyroid Neoplasms	10	10q11.2	RET	42892522	42945803		Frank-Raue, K.  et al. 2007	17605401				Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020975.3			CDC GDP info	5979	Hs.350321			Clin Lab    2007    53(5-6)    273-82	Change in the spectrum of RET mutations diagnosed between 1994 and 2006		164761		CDC	2007												
153142	Y	body mass glucose tolerance glycemia insulin	METABOLIC	MET	Hyperglycemia|Insulin Resistance|Obesity|Disease Progression	19	19p13.2	RETN	7639971	7641340		Xu, J. Y.  et al. 2007	17223990				resistin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020415.2			CDC GDP info	56729	Hs.283091			Clin Endocrinol (Oxf)    2007    66(2)    211-7	Resistin gene polymorphisms and progression of glycaemia in southern Chinese		605565		CDC	2007	Our study would support the role of the resistin gene in obesity, insulin resistance and progression of glycaemia in southern Chinese.											
153149	Y	folate homocysteine	METABOLIC	MET		21	21q22.3	SLC19A1	45759056	45786779			16522921	RFC1 80GG			SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475	higher serum tHcy		Am J Clin Nutr    2006    83(3)    708-13	Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population		600424		CDC	2006	Folate and tHcy concentrations were not affected individually by the MTHFR 1298A-->C, RFC1 80G-->A, or GCPII 1561C-->T polymorphisms or by combinations of the MTHFR 677C-->T and MTHFR 1298A-->C genotypes. An interaction between the MTHFR 677TT and RFC1 80GG genotypes was observed whereby persons with this combination had higher serum tHcy.			MTHFR	MTHFR 677TT	RFC1	RFC1 80GG					
153155		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Gotze, T.  et al. 2007	17208363				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Cancer Lett    2007	Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer		600424		CDC	2007												
153157	N	folate, erythrocyte homocysteine thromboembolism, venous	METABOLIC	MET	Venous Thrombosis|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Gellekink, H.  et al. 2007	17439323				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1			CDC GDP info	6573	Hs.507475			Clin Chem Lab Med    2007    45(4)    471-6	Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous thrombosis		600424		CDC	2007												
153168		schizophrenia	PSYCH	PSY	Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Li, D.  et al. 2006	16791139				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Eur J Hum Genet    2006    14(10)    1130-5	Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia		602516		CDC	2006												
153172	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	1	1q23.3	RGS4	161305774	161313004		Ishiguro, H.  et al. 2006	17092693				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			Schizophr Res    2006	RGS4 is not a susceptibility gene for schizophrenia in Japanese		602516		CDC	2006	the common haplotypes and SNPs of the RGS4 gene identified thus far are unlikely to contribute to the genetic susceptibility to schizophrenia in the Japanese population.											
153174		brain structural connectivity	NEUROLOGICAL	NEUR		1	1q23.3	RGS4	161305774	161313004		Buckholtz, J. W.  et al. 2007	17301167				Regulator of G-protein signalling 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005613.3			CDC GDP info	5999	Hs.386726			J Neurosci    2007    27(7)    1584-93	Allelic variation in RGS4 impacts functional and structural connectivity in the human brain		602516		CDC	2007												
153190		prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q11.2	RNASE1	20339354	20340876		Liu, X.  et al. 2007	17234723				Ribonuclease, RNase A family, 1 (pancreatic)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198235.1	Caucasian		CDC GDP info	6035	Hs.78224			Carcinogenesis    2007	Trans Fatty Acid Intake and Increased Risk of Advanced Prostate Cancer		180440		CDC	2007			fatty acid									
153198		retinal dystrophy	VISION	VIS	Retinitis Pigmentosa|Retinal Diseases|Genetic Diseases, X-Linked	X	Xp11.4-p11.21	RP2	46581318	46626735		Pelletier, V.  et al. 2007	16969763				Retinitis pigmentosa 2 (X-linked recessive)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006915.1	French		CDC GDP info	6102	Hs.44766			Hum Mutat    2007    28(1)    81-91	Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies		312600		CDC	2007												
153205		lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	8	8q23.1	RRM2B	103285906	103320522			16407418				Ribonucleotide reductase M2 B (TP53 inducible)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015713.3			CDC GDP info	50484	Hs.512592			Ann Oncol    2006	Polymorphisms in DNA repair genes modulate survival in cisplatin/gemcitabine-treated non-small-cell lung cancer patients		604712		CDC	2006	XRCC3 241 MetMet is an independent determinant of favorable survival in NSCLC patients treated with cisplatin/gemcitabine. A simple molecular assay to determine the XRCC3 241 genotype can be useful for customizing chemotherapy.		ciplatin gemcitabine									
153223	Y	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Psychotic Disorders	21	21q22.3	S100B	46842958	46849463		Roche, S.  et al. 2007	17525977				S100 calcium binding protein, beta (neural)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006272.1			CDC GDP info	6285	Hs.422181			Am J Med Genet B Neuropsychiatr Genet    2007	Candidate gene analysis of 21q22		176990		CDC	2007	our findings suggest that variants within the S100B gene predispose to a psychotic subtype of BPAD, possibly via alteration of gene expression.											
153227	Y	depressive disorder, major suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	X	Xp22.1	SAT1	23711224	23714248			16389195				Spermidine/spermine N1-acetyltransferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BF680536	Canadian;French		CDC GDP info	6303	Hs.28491			Arch Gen Psychiatry    2006    63(1)    35-48	Implication of SSAT by Gene Expression and Genetic Variation in Suicide and Major Depression				CDC	2006	These data suggest a role for SSAT, the rate-limiting enzyme in the catabolism of polyamines, in suicide and depression and a role for the SSAT342 locus in the regulation of SSAT gene expression.											
153236	Y	peripheral vascular disease	CARDIOVASCULAR	CARD	Atherosclerosis|Peripheral Vascular Diseases	12	12q24.31	SCARB1	123828128	123914287		Ritsch, A.  et al. 2007	17618962				Scavenger receptor class B, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005505.3			CDC GDP info	949	Hs.298813			Metabolism    2007    56(8)    1135-41	Scavenger receptor class B type I polymorphisms and peripheral arterial disease		601040		CDC	2007	in the present study population, SCARB1 polymorphisms not only show associations with plasma levels of total and low-density lipoprotein cholesterol, respectively, but also with the risk for PAD.											
153243	N	chronic obstructive pulmonary disease/COPD	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive|Genetic Predisposition to Disease	11	11q12.3-q13.1	SCGB1A1	61943098	61947243		Liu, S.  et al. 2007	17207022				Secretoglobin, family 1A, member 1 (uteroglobin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003357.3		China	CDC GDP info	7356	Hs.523732			Respirology    2007    12(1)    29-33	Genetic analysis of CC16, OGG1 and GCLC polymorphisms and susceptibility to COPD		192020		CDC	2007												
153256		SIDS/sudden infant death syndrome	CARDIOVASCULAR	CARD	Arrhythmias, Cardiac|Long QT Syndrome|Arrhythmias, Cardiac|Sudden Infant Death	3	3p21	SCN5A	38564556	38666167		Arnestad, M.  et al. 2007	17210839				Sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198056.1	Norwegian		CDC GDP info	6331	Hs.517898			Circulation    2007	Prevalence of Long-QT Syndrome Gene Variants in Sudden Infant Death Syndrome		600163		CDC	2007	We demonstrated that 9.											
153262		cholesterol, HDL	METABOLIC	MET	Hyperlipoproteinemia Type II	12	12p13	SCNN1A	6326273	6354976		Dedoussis, G. V.  et al. 2006	17020471				Sodium channel, nonvoltage-gated 1 alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001038.4			CDC GDP info	6337	Hs.591047			Genet Test    2006    10(3)    192-9	Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in greek familial hypercholesterolemia patients		600228		CDC	2006												
153264	N	blood pressure, arterial	PHARMACOGENOMIC	PHARM	Hypertension	16	16p12.2-p12.1	SCNN1B	23221091	23300121			16432044	SCNN1B   T594M allele			Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000336.1			CDC GDP info	6338	Hs.414614			Hypertension    2006    47(3)    428-33	Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride		600760		CDC	2006	the T594M allele does not contribute significantly to BP in blacks and does not predict a significantly superior response to amiloride therapy.		amiloride									
153274	Y	paragangliomas	CANCER	CAN	Paraganglioma|Paraganglioma, Extra-Adrenal|Abdominal Neoplasms|Adrenal Gland Neoplasms|Head and Neck Neoplasms	1	1p36.1-p35	SDHB	17217811	17253252		Brouwers, F. M.  et al. 2006	16912137				Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003000.1			CDC GDP info	6390	Hs.465924			J Clin Endocrinol Metab    2006	High Frequency of SDHB Germline Mutations in Patients with Malignant Catecholamine-Producing Paragangliomas		185470		CDC	2006	This study establishes that missense, nonsense, frameshift, and splice site mutations of the SDHB gene are associated with about half of all malignancies originating from extraadrenal paragangliomas.											
153294		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Bronchiolitis	1	1q22-q25	SELE	167958405	167969803		Krueger, M.  et al. 2006	16893383				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Int J Immunogenet    2006    33(4)    233-235	Genetic polymorphisms of adhesion molecules in children with severe RSV-associated diseases		131210		CDC	2006												
153302	N	macular degeneration	VISION	VIS	Macular Degeneration	1	1q22-q25	SELE	167958405	167969803		Bojanowski, C. M.  et al. 2005	17057786				Selectin E (endothelial adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000450.1			CDC GDP info	6401	Hs.89546			Trans Am Ophthalmol Soc    2005    103    37-44; discussion 44-5	Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration		131210		CDC	2005	We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.											
153307		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	1	1q23-q25	SELL	167926431	167947461		Kaur, G.  et al. 2006	16916660				Selectin L (lymphocyte adhesion molecule 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000655.2	Indian		CDC GDP info	6402	Hs.82848			Hum Immunol    2006    67(8)    634-8	Polymorphism in L-selectin, e-selectin and icam-1 genes in asian Indian pediatric patients with celiac disease		153240		CDC	2006												
153327	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Lewy Body Disease|Parkinson Disease|Alzheimer Disease	22	22q13.2	Sept3	40702941	40724171		Takehashi, M.  et al. 2004	15200238				Septin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL833942			CDC GDP info	55964	Hs.120483			Gene Expr    2004    11    263-70	Septin 3 gene polymorphism in Alzheimer's disease.		608314		CDC	2004	These results suggest that polymorphism in exon 11 of septin 3 may have a determinative role in the pathogenesis of AD. 											
153351		sepsis	INFECTION	INF	Sepsis	7	7q21.3-q22	SERPINE1	100557104	100568431		Sipahi, T.  et al. 2006	16444434				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Clin Appl Thromb Hemost    2006    12(1)    47-54	Effect of various genetic polymorphisms on the incidence and outcome of severe sepsis		173360		CDC	2006												
153361		stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	7	7q21.3-q22	SERPINE1	100557104	100568431		Komitopoulou, A.  et al. 2006	16567932				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000602.1			CDC GDP info	5054	Hs.414795			Cerebrovasc Dis    2006    22(1)    13-20	Mutations and Polymorphisms in Genes Affecting Hemostasis Proteins and Homocysteine Metabolism in Children with Arterial Ischemic Stroke		173360		CDC	2006	Except for FVL, no definite											
153422	Y	chronic obstructive pulmonary disease	IMMUNE	IMM	Pulmonary Disease, Chronic Obstructive	2	2q33-q35	SERPINE2	224548077	224612237			16358219				Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BX647459			CDC GDP info	5270	Hs.38449			Am J Hum Genet    2005    78(2)	The SERPINE2 Gene Is Associated with Chronic Obstructive Pulmonary Disease		177010		CDC	2005												
153446	Y	asthma respiratory syncytial virus	IMMUNE	IMM	Respiratory Syncytial Virus Infections|Asthma|Lung Diseases|Genetic Predisposition to Disease	8	8p21	SFTPC	22072178	22077936		Puthothu, B.  et al. 2006	17121584				Surfactant, pulmonary-associated protein C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003018.2	Finnish		CDC GDP info	6440	Hs.1074			Pediatr Allergy Immunol    2006    17(8)    572-7	Haplotypes of surfactant protein C are associated with common paediatric lung diseases		178620		CDC	2006												
153449	N	meningococcal disease	INFECTION	INF	Meningococcal Infections|Genetic Predisposition to Disease	10	10q22.2-q23.1	SFTPD	81687475	81698841		Jack, D. L.  et al. 2006	17083016				Surfactant, pulmonary-associated protein D	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003019.4			CDC GDP info	6441	Hs.253495			Clin Infect Dis    2006    43(11)    1426-33	Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease		178635		CDC	2006	Gene polymorphism resulting in the substitution of glutamine with lysine at residue 223 in the carbohydrate recognition domain of SP-A2 increases susceptibility to meningococcal disease, as well as the risk of death.											
153460	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Berndt, S. I.  et al. 2007	17220347				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2	non-Hispanic		CDC GDP info	6462	Hs.632235			Cancer Epidemiol Biomarkers Prev    2007    16(1)    165-8	Variant in sex hormone-binding globulin gene and the risk of prostate cancer		182205		CDC	2007	SHBG D356N heterozygotes were found to have an increased risk of prostate cancer among whites (odds ratio, 1.											
153463		prostate cancer	CANCER	CAN	Prostatic Neoplasms	17	17p13-p12	SHBG	7472098	7477395		Cunningham, J. M.  et al. 2007	17507624				Sex hormone-binding globulin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040.2			CDC GDP info	6462	Hs.632235			Cancer Epidemiol Biomarkers Prev    2007    16(5)    969-78	Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer		182205		CDC	2007												
153471	Y	esophageal cancer	CANCER	CAN	Adenocarcinoma|Neoplasms, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	17	17p11.2	SHMT1	18171911	18207581		Wang, Y.  et al. 2007	17206530				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3		China	CDC GDP info	6470	Hs.513987			Cancer Causes Control    2007	Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China		182144		CDC	2007	The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated.											
153475		breast cancer	CANCER	CAN	Breast Neoplasms	17	17p11.2	SHMT1	18171911	18207581		Yu, C. P.  et al. 2007	17595805				Serine hydroxymethyltransferase 1 (soluble)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004169.3			CDC GDP info	6470	Hs.513987			Anticancer Res    2007    27(3B)    1727-32	Breast cancer risk associated with multigenotypic polymorphisms in folate-metabolizing genes		182144		CDC	2007	The present study indicates the significance of multiple low-penetrance alleles of functionally-related folate-metabolizing genes interactive with an estrogenic environment in breast tumorigenesis.											
153478		obesity	METABOLIC	MET	Obesity|Hyperphagia	6	6q16.3-q21	SIM1	100943470	101018272		Hung, C. C.  et al. 2006	16924270				Single-minded homolog 1 (Drosophila)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=U70212	European		CDC GDP info	6492	Hs.520293			Int J Obes (Lond)    2006	Studies of the SIM1 gene in relation to human obesity and obesity-related traits		603128		CDC	2006	Mutations in SIM1 are not commonly found in humans with severe early-onset obesity. The relationship between the common variants in SIM1 with BMI and body weight gain deserves further exploration in other populations.											
153498		bipolar disorder schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder|Schizophrenia	10	10q25	SLC18A2	118990705	119027085		Gutierrez, B.  et al. 2007	17427184				Solute carrier family 18 (vesicular monoamine), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003054.2			CDC GDP info	6571	Hs.369009			Am J Med Genet B Neuropsychiatr Genet    2007	Identification of two risk haplotypes for schizophrenia and bipolar disorder in the synaptic vesicle monoamine transporter gene (SVMT)		193001		CDC	2007												
153507		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	21	21q22.3	SLC19A1	45759056	45786779		Lissowska, J.  et al. 2007	17311260				SLC19A1 solute carrier family 19 (folate transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_194255.1		Poland	CDC GDP info	6573	Hs.84190			Int J Cancer    2007	Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk		600424		CDC	2007	this report does not support a substantial overall association between the evaluated polymorphisms in the one-carbon metabolism pathway and breast cancer risk.											
153512		alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism|Postmortem Changes	11	11p13-p12	SLC1A2	35229327	35398100		Buckley, S. T.  et al. 2006	16766085				Solute carrier family 1 (glial high affinity glutamate transporter), member 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004171.2	Caucasian		CDC GDP info	6506	Hs.502338			Neurochem Int    2006	GABA(A) receptor beta isoform protein expression in human alcoholic brain		600300		CDC	2006												
153517		metformin efficacy	PHARMACOGENOMIC	PHARM	Diabetes Mellitus, Type 2	6	6q26	SLC22A1	160462852	160499740		Shikata, E.  et al. 2006	17111267				Solute carrier family 22 (organic cation transporter), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003057.2			CDC GDP info	6580	Hs.117367			J Hum Genet    2006	Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin		602607		CDC	2006												
153567	Y	autism	PSYCH	PSY	Autistic Disorder	2	2q24	SLC25A12	172349125	172458979			16263864				Solute carrier family 25 (mitochondrial carrier, Aralar), member 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003705.2	Irish	Ireland	CDC GDP info	8604	Hs.470608			Am J Psychiatry    2005    162(11)    2182-4	Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31		603667		CDC	2005	These findings provide replication of the association between autism and SLC25A12.											
153570	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	X	Xq24	SLC25A14	129301590	129335016		Yasuno, K.  et al. 2006	17066476				Solute carrier family 25 (mitochondrial carrier, brain), member 14	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF078544			CDC GDP info	9016	Hs.194686			Am J Med Genet B Neuropsychiatr Genet    2006	Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia		300242		CDC	2006												
153599		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	3	3p25-p24	SLC6A1	11009455	11055935		Das, M.  et al. 2007	17440935				Solute carrier family 6 (neurotransmitter transporter, GABA), member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003042	Indian		CDC GDP info	6529	Hs.443874			Am J Med Genet B Neuropsychiatr Genet    2007	DAT1 3'-UTR 9R allele		137165		CDC	2007												
153614		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence	5	5p15.3	SLC6A3	1445908	1498543			16526040				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2006	The effect of dopamine D2, D5 receptor and transporter (SLC6A3) polymorphisms on the cue-elicited heroin craving in Chinese		126455		CDC	2006												
153616		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543			16545000				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Omani		CDC GDP info	6531	Hs.406			Genet Test    2006    10(1)    31-4	The VNTR Polymorphism in the Human Dopamine Transporter Gene		126455		CDC	2006												
153631		headache	NEUROLOGICAL	NEUR	Headache|Substance-Related Disorders|Chronic Disease|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		Cevoli, S.  et al. 2006	16930369				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Eur J Neurol    2006    13(9)    1009-13	A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse		126455		CDC	2006												
153636		attention deficit hyperactivity disorder	PHARMACOGENOMIC	PHARM	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Joober, R.  et al. 2006	17063150				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Neuropsychopharmacology    2006	Dopamine Transporter 3'-UTR VNTR Genotype and ADHD		126455		CDC	2006			methylphenidate									
153644		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	5	5p15.3	SLC6A3	1445908	1498543		Campa, D.  et al. 2006	17175058				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	Caucasian;Norwegian		CDC GDP info	6531	Hs.406			Lung Cancer    2006	Polymorphisms of dopamine receptor/transporter genes and risk of non-small cell lung cancer		126455		CDC	2006	The dopamine receptor/transport gene polymorphisms are associated with the risk of NSCLC among smokers. The data show that the polymorphisms resulting in lower dopamine bioavailability were associated with increased risk of NSCLC.											
153652	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Laurin, N.  et al. 2007	17325714				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Mol Psychiatry    2007    12(3)    226-9	No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder		126455		CDC	2007												
153656		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Kim, J. W.  et al. 2007	17427194				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Am J Med Genet B Neuropsychiatr Genet    2007	Investigation of parent-of-origin effects in ADHD candidate genes		126455		CDC	2007												
153668	Y	smoking behavior	CHEMDEPENDENCY	CHEM	Tobacco Use Disorder	5	5p15.3	SLC6A3	1445908	1498543		Stapleton, J. A.  et al. 2007	17508996				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Addict Biol    2007    12(2)    221-6	Association between dopamine transporter genotypes and smoking cessation		126455		CDC	2007												
153671		migraine migraine with aura	NEUROLOGICAL	NEUR	Migraine Disorders|Genetic Predisposition to Disease	5	5p15.3	SLC6A3	1445908	1498543		McCallum, L. K.  et al. 2007	17539957			Intron	Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2			CDC GDP info	6531	Hs.406			Eur J Neurol    2007    14(6)    706-7	Association study of a functional variant in intron 8 of the dopamine transporter gene and migraine susceptibility		126455		CDC	2007												
153674		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	5	5p15.3	SLC6A3	1445908	1498543		Friedel, S.  et al. 2007	17579611				Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001044.2	German		CDC GDP info	6531	Hs.406			Mol Psychiatry    2007	Association and linkage of allelic variants of the dopamine transporter gene in ADHD		126455		CDC	2007												
153720	N	smoking behavior	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		Trummer, O.  et al. 2006	16702982				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			Pharmacogenomics J    2006	The serotonin transporter gene polymorphism is not associated with smoking behavior		182138		CDC	2006	the SLC6A4 promoter polymorphism is not a major determinant of smoking behavior in Caucasian.											
153723	Y	aggression	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit and Disruptive Behavior Disorders|Child Development Disorders, Pervasive	17	17q11.1-q12	SLC6A4	25549031	25586831		Beitchman, J. H.  et al. 2006	16741214				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Psychiatry    2006    163(6)    1103-5	Serotonin transporter polymorphisms and persistent, pervasive childhood aggression		182138		CDC	2006	This is the first study to report a significant association between the 5-HTTLPR gene and childhood aggression.											
153727		emotion regulation	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Herrmann, M. J.  et al. 2006	16801378				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Cereb Cortex    2006	Additive Effects of Serotonin Transporter and Tryptophan Hydroxylase-2 Gene Variation on Emotional Processing		182138		CDC	2006												
153731		bipolar disorder depressive disorder, major	PHARMACOGENOMIC	PHARM	Bipolar Disorder|Depressive Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Smeraldi, E.  et al. 2006	16829782				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Caucasian		CDC GDP info	6532	Hs.591192			Psychiatr Genet    2006    16(4)    153-8	Serotonin transporter gene-linked polymorphic region		182138		CDC	2006			fluvoxamine									
153750		amphetamine response	PHARMACOGENOMIC	PHARM	Substance-Related Disorders|Amphetamine-Related Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Lott, D. C.  et al. 2006	16966188				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Addict    2006    15(5)    327-35	Serotonin transporter genotype and acute subjective response to amphetamine		182138		CDC	2006												
153751	Y	personality traits	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Dragan, W. L.  et al. 2006	16966839				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2		Poland	CDC GDP info	6532	Hs.591192			Neuropsychobiology    2006    54(1)    45-50	Association of a Functional Polymorphism in the Serotonin Transporter Gene with Personality Traits in Females in a Polish Population		182138		CDC	2006												
153767		irritable bowel syndrome	IMMUNE	IMM	Irritable Bowel Syndrome|Genetic Predisposition to Disease	17	17q11.1-q12	SLC6A4	25549031	25586831		Park, J. M.  et al. 2006	17040410				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			Neurogastroenterol Motil    2006    18(11)    995-1000	Serotonin transporter gene polymorphism and irritable bowel syndrome		182138		CDC	2006												
153774		attention deficit hyperactivity disorder	PSYCH	PSY	Genetic Predisposition to Disease|Attention Deficit Disorder with Hyperactivity	17	17q11.1-q12	SLC6A4	25549031	25586831		Heiser, P.  et al. 2006	17093889				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			J Neural Transm    2006	Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample		182138		CDC	2006												
153779	N	obesity	METABOLIC	MET	Obesity	17	17q11.1-q12	SLC6A4	25549031	25586831		Mergen, H.  et al. 2006	17124363				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Endocr J    2006	LEPR, ADBR3, IRS-1 and 5-HTT Genes Polymorphisms do not Associate with Obesity		182138		CDC	2006												
153788		anxiety disorder depression neuroticism	PSYCH	PSY	Neurotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831		Middeldorp, C. M.  et al. 2007	17216342				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Behav Genet    2007	Family Based Association Analyses between the Serotonin Transporter Gene Polymorphism (5-HTTLPR) and Neuroticism, Anxiety and Depression		182138		CDC	2007												
153794		autism	PSYCH	PSY	Autistic Disorder	17	17q11.1-q12	SLC6A4	25549031	25586831		Cho, I. H.  et al. 2007	17280648				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Korean		CDC GDP info	6532	Hs.591192			Brain Res    2007	Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios		182138		CDC	2007												
153803		anxiety depression mental maladaptation	PSYCH	PSY	Genetic Predisposition to Disease|Psychotic Disorders	17	17q11.1-q12	SLC6A4	25549031	25586831			17310797				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Zh Nevrol Psikhiatr Im S S Korsakova    2007    107(1)    46-51	Serotonin transporter gene polymorphism modulates psychic maladaptation in relatives of patients with endogenic psychoses		182138		CDC	2007												
153809		smoking behavior	CHEMDEPENDENCY	CHEM		17	17q11.1-q12	SLC6A4	25549031	25586831		David, S. P.  et al. 2007	17365753				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	European		CDC GDP info	6532	Hs.591192			Nicotine Tob Res    2007    9(2)    225-31	The serotonin transporter 5-HTTLPR polymorphism and treatment response to nicotine patch		182138		CDC	2007												
153816	Y	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia	17	17q11.1-q12	SLC6A4	25549031	25586831		Olesen, O. F.  et al. 2006	17401157				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2	Scandinavian		CDC GDP info	6532	Hs.591192			J Mol Neurosci    2006    30(3)    323-8	Association of the 5-HT2A Receptor Gene Polymorphism 102T/C With Ischemic Stroke		182138		CDC	2006												
153840		antisocial personality disorder attention deficit hyperactivity disorder	PSYCH	PSY		17	17q11.1-q12	SLC6A4	25549031	25586831		Langley, K.  et al. 2007	17579368				Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001045.2			CDC GDP info	6532	Hs.591192			Am J Med Genet B Neuropsychiatr Genet    2007	Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior		182138		CDC	2007			alcohol, maternal birth weight smoking (tobacco), maternal									
153879		paclitaxel pharmacokinetics	PHARMACOGENOMIC	PHARM		12	12p12	SLCO1B3	20854904	21134307		Smith, N. F.  et al. 2007	17186002				Solute carrier organic anion transporter family, member 1B3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019844	Caucasian;European		CDC GDP info	28234	Hs.504966			Clin Pharmacol Ther    2007    81(1)    76-82	Variants in the SLCO1B3 Gene				CDC	2007												
153885	Y	bacteremia	INFECTION	INF	Bacteremia|Anemia, Sickle Cell|Genetic Predisposition to Disease	15	15q21-q22	SMAD6	64781687	64861380		Adewoye, A. H.  et al. 2006	16886151				SMAD family member 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005585			CDC GDP info	4091	Hs.153863			Clin Infect Dis    2006    43(5)    593-8	Association of Polymorphisms of IGF1R and Genes in the Transforming Growth Factor- beta /Bone Morphogenetic Protein Pathway with Bacteremia in Sickle Cell Anemia		602931		CDC	2006												
153891		spinal muscular atrophy	NEUROLOGICAL	NEUR	Muscular Atrophy, Spinal	5	5q13	SMN2	69381105	69410105		Sadewa, A. H.  et al. 2007	17250497				Survival of motor neuron 1, telomeric	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017411	Japanese;Caucasian		CDC GDP info	6607	Hs.202179			Pediatr Int    2007    49(1)    8-10	C117T variant in the SMN1 gene found in the Japanese population		601627		CDC	2007	The C117T variant was found not only in the Caucasian population, but also in the Japanese population.											
153895		attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Choi, T. K.  et al. 2007	17325713				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Mol Psychiatry    2007    12(3)    224-6	Support for the MnlI polymorphism of SNAP25; a Korean ADHD case-control study		600322		CDC	2007												
153896	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	20	20p12-p11.2	SNAP25	10147476	10236065		Laurin, N.  et al. 2007	17325714				Synaptosomal-associated protein, 25kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003081.2			CDC GDP info	6616	Hs.167317			Mol Psychiatry    2007    12(3)    226-9	No preferential transmission of paternal alleles at risk genes in attention-deficit hyperactivity disorder		600322		CDC	2007												
153901		multiple system atrophy	OTHER	OTH	Multiple System Atrophy	4	4q21	SNCA	90865727	90978470			16543523				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2			CDC GDP info	6622	Hs.271771			J Neurol Neurosurg Psychiatry    2006    77(4)    464-7	The {alpha}-synuclein gene in multiple system atrophy		163890		CDC	2006	In 253 Gilman probable or definite MSA patients, 457 possible, probable, and definite MSA cases and 1472 controls, a frequency difference for the individual tagging SNPs or tag-defined haplotypes was not detected. No effect was observed of polymorphisms on the pathological expression of MSA in pathologically confirmed cases.											
153906		Parkinson's disease	NEUROLOGICAL	NEUR	Parkinsonian Disorders|Parkinson Disease	4	4q21	SNCA	90865727	90978470		Xiromerisiou, G.  et al. 2007	17222106				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	Greek		CDC GDP info	6622	Hs.271771			Eur J Neurol    2007    14(1)    7-11	Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease		163890		CDC	2007												
153909	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	4	4q21	SNCA	90865727	90978470		Foroud, T.  et al. 2007	17374032				Synuclein, alpha (non A4 component of amyloid precursor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000345.2	European		CDC GDP info	6622	Hs.271771			Alcohol Clin Exp Res    2007    31(4)    537-45	Association of alcohol craving with alpha-synuclein (SNCA)		163890		CDC	2007	These results suggest that variation in SNCA contributes to alcohol craving, a common, although not uniform, feature of alcohol dependence.											
153914		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q23.2-q23.3	SNCG	88708392	88712995		Morgan, A. R.  et al. 2007	17373700				Synuclein, gamma (breast cancer-specific protein 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003087.1			CDC GDP info	6623	Hs.349470			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		602998		CDC	2007												
153922	N	obesity	METABOLIC	MET	Obesity	17	17q25.3	SOCS3	73864456	73867753		Holter, K.  et al. 2007	17445271				Suppressor of cytokine signaling 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003955.3	German		CDC GDP info	9021	Hs.527973			BMC Med Genet    2007    8(1)    21	Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents		604176		CDC	2007	In conclusion, our data do not suggest evidence for a major role of the respective SNPs in SOCS3 in the pathogenesis of extreme obesity in our study groups.											
153925	N	lung function	OTHER	OTH	Pulmonary Disease, Chronic Obstructive	21	21q22.1	SOD1	31953805	31963114		Young, R.  et al. 2006	16467073				Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000454.4			CDC GDP info	6647	Hs.443914			Thorax    2006	Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function		147450		CDC	2006	The 213Gly variant of the SOD3 gene may, through antioxidant or anti-inflammatory effects, confer a degree of resistance in some smokers to the development of COPD.											
153931		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343			16424062				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Cancer Res    2006    66(2)    1225-1233	Tagging Single-Nucleotide Polymorphisms in Antioxidant Defense Enzymes and Susceptibility to Breast Cancer		147460		CDC	2006												
153935	N	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Ventriglia, M.  et al. 2005	16485861				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Italian	Italy	CDC GDP info	6648	Hs.487046			Aging Clin Exp Res    2005    17(6)    445-8	Lack of association between MnSOD gene polymorphism and sporadic Alzheimer's disease		147460		CDC	2005												
153937		atherosclerosis, coronary	CARDIOVASCULAR	CARD		6	6q25.3	SOD2	160020138	160034343		Fujimoto, H.  et al. 2006	16515365				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			J Cardiol    2006    47(2)    110-3	Manganese superoxide dismutase polymorphism affects the oxidized low density lipoprotein-induced apoptosis of macrophages and coronary artery disease		147460		CDC	2006												
153942	Y	leukemia	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid|Acute Disease	6	6q25.3	SOD2	160020138	160034343		Koistinen, P.  et al. 2006	16769586				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Haematologica    2006    91(6)    829-32	An association between manganese superoxide dismutase polymorphism and outcome of chemotherapy in acute myeloid leukemia		147460		CDC	2006			chemotherapy									
153946	Y	breast cancer	CANCER	CAN	Breast Neoplasms	6	6q25.3	SOD2	160020138	160034343		Martin, R. C. = Md et al. 2006	16859522			promoter	Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Breast Cancer Res    2006    8(4)    R45	Association between Manganese Superoxide Dismutase Promoter Gene Polymorphism and Breast Cancer Survival		147460		CDC	2006	The MnSOD -102 variant allele appears to be associated with an improved recurrence-free survival in all patients, and more dramatically in subjects who received adjuvant radiation therapy.											
153951		bladder cancer leukemia lung cancer	CANCER	CAN	Neoplasms	6	6q25.3	SOD2	160020138	160034343		Manuguerra, M. et al  et al. 2006	16956909				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Carcinogenesis    2006	Multi-factor dimensionality reduction applied to a large prospective investigation on gene-gene and gene-environment interactions		147460		CDC	2006												
153955	N	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6q25.3	SOD2	160020138	160034343		Ventriglia, M.  et al. 2006	17055157				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2	Italian	Italy	CDC GDP info	6648	Hs.487046			Neurosci Lett    2006	No association between Ala9Val functional polymorphism of MnSOD gene and schizophrenia in a representative Italian sample		147460		CDC	2006												
153967	Y	Behcet's disease	IMMUNE	IMM	Behcet Syndrome	6	6q25.3	SOD2	160020138	160034343		Nakao, K.  et al. 2007	17296902	SOD2 Val16 allele			Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Arch Ophthalmol    2007    125(2)    246-51	Nitric oxide synthase and superoxide dismutase gene polymorphisms in Behcet disease		147460		CDC	2007	The manganese SOD Val16 allele is associated with$$$ the development of BD in Japan.											
153974	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6q25.3	SOD2	160020138	160034343		Wiener, H. W.  et al. 2007	17376152				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Genes Brain Behav    2007	A polymorphism in SOD2 is associated with development of Alzheimer's disease		147460		CDC	2007												
153982		pancreatic disease pancreatitis, chronic	OTHER	OTH	Pancreatitis, Alcoholic	6	6q25.3	SOD2	160020138	160034343		Osterreicher, C. H.  et al. 2007	17548864				Superoxide dismutase 2, mitochondrial	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000636.2			CDC GDP info	6648	Hs.487046			Mutagenesis    2007	Genetic polymorphisms of manganese-superoxide dismutase and glutathione-S-transferase in chronic alcoholic pancreatitis		147460		CDC	2007												
153991	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	11	11q23.2-q24.2	SORL1	120828129	121005612		Lee, J. H.  et al. 2007	17420311				Sortilin-related receptor, L(DLR class) A repeats-containing	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003105	African American;Hispanic ;European;non-Hispanic		CDC GDP info	6653	Hs.368592			Arch Neurol    2007    64(4)    501-6	The Association Between Genetic Variants in SORL1 and Alzheimer Disease in an Urban, Multiethnic, Community-Based Cohort		602005		CDC	2007	This study confirms the association between genetic variants in SORL1 and AD.											
153993		schizophrenia	PSYCH	PSY	Schizophrenia	22	22q13.1	SOX10	36698264	36713375		Iwamoto, K.  et al. 2006	16741945				SRY (sex determining region Y)-box 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006941.3			CDC GDP info	6663	Hs.376984			Am J Med Genet B Neuropsychiatr Genet    2006	A family-based and case-control association study of SOX10 in schizophrenia		602229		CDC	2006												
153999		retinal degenration	VISION	VIS	Blindness|Retinal Degeneration	7	7p15.3	SP4	21434213	21520676		Gao, Y. Q.  et al. 2007	17356515			Intron	Sp4 transcription factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003112			CDC GDP info	6671	Hs.88013			Mol Vis    2007    13    287-92	Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease		600540		CDC	2007	If mutations in SP4 do cause retinal degenerative disease, their frequency would be low.											
154015		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	4	4q12	SPINK2	57370790	57382650		Wapenaar, M. C.  et al. 2007	17333166				Serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BM563686			CDC GDP info	6691	Hs.98243			Immunogenetics    2007	The SPINK gene family and celiac disease susceptibility		605753		CDC	2007			diet									
154018		celiac disease	IMMUNE	IMM	Celiac Disease|Genetic Predisposition to Disease	5	5q32	SPINK5	147423758	147497120		Wapenaar, M. C.  et al. 2007	17333166				Serine peptidase inhibitor, Kazal type 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006846.2			CDC GDP info	11005	Hs.331555			Immunogenetics    2007	The SPINK gene family and celiac disease susceptibility		605010		CDC	2007			diet									
154025	N	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	4	4q21-q25	SPP1	89115825	89123587		Mas, A.  et al. 2007	17439891				Secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001040058.1	Japanese;Italian	Spain	CDC GDP info	6696	Hs.313			Mult Scler    2007    13(2)    250-2	The 795CT polymorphism in osteopontin gene is not associated with multiple sclerosis in a Spanish population		166490		CDC	2007	our data suggest that the 795 polymorphism does not play an etiological role per se and the haplotype structure may differ from one population to another.											
154053	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q11-q12	STARD3	35046937	35073250		Benusiglio, P. R.  et al. 2006	17117180				START domain containing 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AL831952			CDC GDP info	10948	Hs.77628			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		607048		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
154095	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	19	19q13.3	SULT2A1	53065681	53081405		Wilborn, T. W.  et al. 2006	16617014				Sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003167			CDC GDP info	6822	Hs.515835			J Steroid Biochem Mol Biol    2006	Association of SULT2A1 allelic variants with plasma adrenal androgens and prostate cancer in African American men		125263		CDC	2006												
154102	Y	diabetes, type 1	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Sedimbi, S. K.  et al. 2006	17130565				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Canadian;Caucasian		CDC GDP info	387082	Hs.269775			Ann N Y Acad Sci    2006    1079    273-7	Association of SUMO4 M55V Polymorphism with Autoimmune Diabetes in Latvian Patients		608829		CDC	2006												
154105	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875		Noso, S.  et al. 2007	17374705				SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	Japanese;Caucasian;Asian	Japan	CDC GDP info	387082	Hs.269775			J Clin Endocrinol Metab    2007	Association of small ubiquitin-like modifier 4 (SUMO4) variant, located in IDDM5 locus, with type 2 diabetes in the Japanese population		608829		CDC	2007	These data, together with previous reports, suggest the contribution of the SUMO4 Met55Val polymorphism to both type 1 and type 2 diabetes susceptibility in the Japanese population.											
154109		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q22.1	SUPV3L1	70609998	70638855		Morgan, A. R.  et al. 2007	17373700				Suppressor of var1, 3-like 1 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC036112			CDC GDP info	6832	Hs.106469			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease		605122		CDC	2007												
154114	N	attention deficit hyperactivity disorder	PSYCH	PSY	Attention Deficit Disorder with Hyperactivity	22	22q12.3	SYN3	31238539	31784329		Makkar, R.  et al. 2007	17413450				Synapsin III	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003490.2			CDC GDP info	8224	Hs.584827			Psychiatr Genet    2007    17(2)    109-12	The gene for synapsin III and attention-deficit hyperactivity disorder		602705		CDC	2007	Our findings with this particular sample do not support the synapsin III locus as a major susceptibility locus contributing to attention deficit hyperactivity disorder.											
154118		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	7	7q21-q22	TAC1	97199310	97207720		Cunningham, S.  et al. 2006	17175032				Tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013996.1	Irish;Sardinian		CDC GDP info	6863	Hs.2563			J Neuroimmunol    2006	The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis		162320		CDC	2006												
154120		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility	12	12q13-q21	TAC3	55690050	55696592		Cunningham, S.  et al. 2006	17175032				Tachykinin 3 (neuromedin K, neurokinin beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF537113	Irish;Sardinian		CDC GDP info	6866	Hs.9730			J Neuroimmunol    2006	The neuropeptide genes TAC1, TAC3, TAC4, VIP and PACAP(ADCYAP1), and susceptibility to multiple sclerosis		162330		CDC	2006												
154124	N	aggressive behavior suicide	PSYCH	PSY		2	2p13.1	TACR1	75129737	75279781		Giegling, I.  et al. 2007	17443717				Tachykinin receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001058	Caucasian;German		CDC GDP info	6869	Hs.654419			Am J Med Genet B Neuropsychiatr Genet    2007	Tachykinin receptor 1 variants associated with aggression in suicidal behavior		162323		CDC	2007	our study suggests that TACR1 gene variants have no major influence on suicidal behavior but may modulate aggression features.											
154131		preeclampsia	REPRODUCTION	REP		6	6p21.3	TAP1	32920963	32929726		Gao, M.  et al. 2006	16604487				Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000593.5			CDC GDP info	6890	Hs.352018			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(2)    165-8	Investigating the correlation between polymorphisms with couple sharing rate of TAP gene and hypertensive disorder complicating pregnancy.		170260		CDC	2006	Our data suggest that the presence of TAP2B or TAP2F haplotypes should be considered as a risk increased to pregnant women being susceptible to hypertensive disorder complicating pregnancy; and also the elevated couple sharing rates of TAP1B, TAP1C and TAP2B genes will increase the opportunity or possibility of pregnant women suffering from pre-eclampsia dis											
154154	Y	alcohol abuse	CHEMDEPENDENCY	CHEM	Alcoholism	7	7q34	TAS2R38	141318899	141320042		Wang, J. C.  et al. 2007	17250611				Taste receptor, type 2, member 38	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_176817.2			CDC GDP info	5726	Hs.122785			Alcohol Clin Exp Res    2007    31(2)    209-15	Functional Variants in TAS2R38 and TAS2R16 Influence Alcohol Consumption in High-Risk Families of African-American Origin		607751		CDC	2007	Functional variants in both TAS2R16 and TAS2R38 correlate with alcohol consumption in African-American families.											
154160		IgE levels	IMMUNE	IMM	Diabetes Mellitus, Type 1|Hypersensitivity, Immediate|Genetic Predisposition to Disease	17	17q21.32	TBX21	43165608	43178484		Maier, L. M.  et al. 2006	16750991				T-box 21	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_013351.1			CDC GDP info	30009	Hs.272409			J Allergy Clin Immunol    2006    117(6)    1306-13	Association of IL13 with total IgE		604895		CDC	2006	Allelic variation in the IL-13 gene is robustly confirmed as a contributor to the variance of IgE levels but has no detectable effect in type 1 diabetes. CLINICAL IMPLICATIONS: Although the allelic variation at the confirmed IL-13 locus explains too little of the between-individual variation of circulating IgE to be of use for clinical prediction on its own,											
154165	N	breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	17	17q12	TCAP	35075124	35076333		Benusiglio, P. R.  et al. 2006	17117180				Titin-cap (telethonin)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003673.2			CDC GDP info	8557	Hs.514146			Br J Cancer    2006	HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer		604488		CDC	2006	we found no association between common genetic variation in the 17q21 ERBB2 amplicon and breast cancer risk in British women.											
154171	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Shaat, N.  et al. 2006	16752173				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3	Scandinavian		CDC GDP info	6927	Hs.567343			Diabetologia    2006    49(7)    1545-51	Common variants in MODY genes increase the risk of gestational diabetes mellitus		142410		CDC	2006	 The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.											
154180	N	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	12	12q22-qter	TCF1	119900931	119924697		Sale, M. M.  et al. 2007	17601994				Transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000545.3			CDC GDP info	6927	Hs.567343			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		142410		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
154184		prostate cancer	CANCER	CAN	Prostatic Neoplasms|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	17	17cen-q21.3	TCF2	33120546	33179182		Gudmundsson, J. et al.  et al. 2007	17603485				Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000458.1	Chinese;Icelandic		CDC GDP info	6928	Hs.191144			Nat Genet    2007	Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes		189907		CDC	2007												
154191	Y	diabetes, type 2 glucose insulin	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Chandak, G. R.  et al. 2006	17093941				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	European;Indian		CDC GDP info	6934	Hs.588935			Diabetologia    2006	Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population		602228		CDC	2006	Our study in Indian subjects replicates the strong association of TCF7L2 variants with type 2 diabetes in other populations.											
154195	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Horikoshi, M.  et al. 2007	17245589				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Japanese;European		CDC GDP info	6934	Hs.588935			Diabetologia    2007	A genetic variation of the transcription factor 7-like 2 gene is associated with risk of type 2 diabetes in the Japanese population	s7903146	602228		CDC	2007	 The consistent association between rs7903146 in TCF7L2 and type 2 diabetes in different ethnic groups, including the Japanese population, suggests that TCF7L2 is a common susceptibility gene for type 2 diabetes.											
154201	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Kimber, C. H.  et al. 2007	17429603				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1	Scottish		CDC GDP info	6934	Hs.588935			Diabetologia    2007	TCF7L2 in the Go-DARTS study		602228		CDC	2007	We have confirmed TCF7L2 to be a diabetes locus in a large case-control study in Tayside, UK. Our data suggest that variants of TCF7L2 may be associated with increased disease severity and therapeutic failure.											
154207	Y	diabetes, type 2	METABOLIC	MET	Diabetic Nephropathies|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q25.3	TCF7L2	114700200	114916060		Sale, M. M.  et al. 2007	17601994				transcription factor 7-like 2 (T-cell specific, HMG-box)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_030756.1			CDC GDP info	6934	Hs.588935			Diabetes    2007	Variants of the Transcription Factor 7-Like 2 (TCF7L2) Gene are Associated with Type 2 Diabetes in an African American Population Enriched for Nephropathy		602228		CDC	2007	This study indicates that variants in the TCF7L2 gene significantly contribute to diabetes susceptibility in AA populations.											
154213	Y	oxidative stress	METABOLIC	MET	Autistic Disorder	22	22q12.2	TCN2	29333160	29353047		James, S. J.  et al. 2006	16917939				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDP info	6948	Hs.417948			Am J Med Genet B Neuropsychiatr Genet    2006	Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism		275350		CDC	2006												
154216		malaria, plasmodium falciparum	INFECTION	INF		22	22q12.2	TCN2	29333160	29353047		Gueant, J. L.  et al. 2007	17220211				Transcobalamin II; macrocytic anemia	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000355.2			CDC GDP info	6948	Hs.417948			J Med Genet    2007	Environmental influence on the world-wide prevalence of a 776C>G variant in the transcobalamin gene (TCN2)		275350		CDC	2007	Given the dramatic heterogeneity of the 776G allele frequency worldwide, this polymorphism may be prone to a selective pressure or confers an evolutionary advantage in confronting environmental factors, one of which is malaria.											
154220		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		4	4q31-q32	TDO2	157044296	157061000		Comings, D. E.  et al. 2000	11140838				Tryptophan 2,3-dioxygenase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005651.1			CDC GDP info	6999	Hs.183671			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		191070		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
154229		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Iron Metabolism Disorders|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Blazquez, L.  et al. 2006	17011669				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			Neurobiol Aging    2006	Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population		190000		CDC	2006												
154265	N	celiac disease	IMMUNE	IMM	Celiac Disease|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Sumnik, Z.  et al. 2006	16567828				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	European		CDC GDP info	7040	Hs.155218			Diabetes Care    2006    29(4)    858-63	Risk of Celiac Disease in Children With Type 1 Diabetes Is Modified by Positivity for HLA-DQB1*02-DQA1*05 andTNF -308A		190180		CDC	2006	The results indicate that the risk of CD in children with type 1 diabetes is significantly modified both by the presence of HLA-DQB1*02-DQA1*05 and by a variant of another gene within the major histocompatibility complex, the TNF -308A.											
154283	N	tuberculosis	INFECTION	INF	Tuberculosis	19	19q13.2	TGFB1	46528490	46551656		Oral, H. B.  et al. 2006	16962335				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Turkish		CDC GDP info	7040	Hs.155218			Cytokine    2006	Interleukin-10 (IL-10) gene polymorphism as a potential host susceptibility factor in tuberculosis		190180		CDC	2006												
154288	N	bone density	METABOLIC	MET	Osteoporosis, Postmenopausal|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Hubacek, J.A. et al. 2006	17100549				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Caucasian		CDC GDP info	7040	Hs.155218			Endocr Regul    2006    40(3)    77-81	GENETIC POLYMORPHISMS OF TGF-beta, PAI-1, AND COL1A-1, AND DETERMINATION OF BONE MINERAL DENSITY IN CAUCASIAN FEMALES		190180		CDC	2006												
154308		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	19	19q13.2	TGFB1	46528490	46551656		Budak, F.  et al. 2007	17544674				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Turkish		CDC GDP info	7040	Hs.155218			Cytokine    2007	IL-10 and IL-6 gene polymorphisms as potential host susceptibility factors in Brucellosis		190180		CDC	2007												
154315	N	pulmonary fibrosis sarcoidosis	CARDIOVASCULAR	CARD	Pulmonary Fibrosis|Sarcoidosis, Pulmonary|Genetic Predisposition to Disease	1	1q41	TGFB2	216586490	216681593		Kruit, A.  et al. 2006	16778279				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDP info	7042	Hs.133379			Chest    2006    129(6)    1584-91	Transforming Growth Factor-{beta} Gene Polymorphisms in Sarcoidosis Patients With and Without Fibrosis		190220		CDC	2006	This study is the first to suggest the implication of genetic variation of TGF-beta3 in the predilection for pulmonary fibrosis developing in sarcoidosis patients.											
154318		multiple sclerosis Parkinson's disease	IMMUNE	IMM	Multiple Sclerosis|Parkinson Disease	1	1q41	TGFB2	216586490	216681593		Goris, A.  et al. 2007	17431704				Transforming growth factor, beta 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003238.1			CDC GDP info	7042	Hs.133379			J Neurol    2007	Investigation of TGFB2 as a candidate gene in multiple sclerosis and Parkinson's disease		190220		CDC	2007												
154324	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	9	9q22	TGFBR1	100907232	100956294		Skoglund, J.  et al. 2007	17575241				Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004612.2			CDC GDP info	7046	Hs.494622			Clin Cancer Res    2007    13(12)    3748-52	Lack of an Association between the TGFBR1*6A Variant and Colorectal Cancer Risk		190181		CDC	2007	Current data provide limited support for the hypothesis that sequence variation in TGFBR1 defined by the TGFBR1*6A allele confers an elevated risk of colorectal cancer.											
154331	Y	stomach cancer	CANCER	CAN		3	3p22	TGFBR2	30622997	30710637		Zhou, Y.  et al. 2007	17562261				Transforming growth factor, beta receptor II (70/80kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001024847.1			CDC GDP info	7048	Hs.82028			Ai Zheng    2007    26(6)    581-5	Correlations of Polymorphisms of TGFB1 and TGFBR2 Genes to Genetic Susceptibility to Gastric Cancer.		190182		CDC	2007	Genetic variants of TGFB1 and TGFBR2 genes may contribute to the risk of developing gastric cancer in an eastern Chinese population in Yixing city.											
154337		hypertension	CARDIOVASCULAR	CARD	Hypertension	11	11p15.5	TH	2141734	2149611		Gu, D.  et al. 2006	16636198				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Hypertension    2006	Association Study With 33 Single-Nucleotide Polymorphisms in 11 Candidate Genes for Hypertension in Chinese		191290		CDC	2006												
154341	N	personality traits	PSYCH	PSY		11	11p15.5	TH	2141734	2149611		Hibino, H.  et al. 2006	17018139				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Behav Brain Funct    2006    2(1)    32	No association of DRD2, DRD3, and tyrosine hydroxylase gene polymorphisms with personality traits in the Japanese population		191290		CDC	2006	The present study did not provide evidence for the association between these dopamine-related genes and personality traits in the Japanese population.											
154343	N	smoking behavior	PHARMACOGENOMIC	PHARM		11	11p15.5	TH	2141734	2149611		Ton, T. G.  et al. 2007	17466074				Tyrosine hydroxylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_199292.2			CDC GDP info	7054	Hs.435609			Behav Brain Funct    2007    3(1)    22	Genetic polymorphisms in dopamine-related genes and smoking cessation in women		191290		CDC	2007	 However, effect modification on smoking cessation was observed between DRD2 Taq1A and SLC6A3 VNTR polymorphisms, DRD3 Ser/Gly and d,1-fenfluramine, and DRD4 VNTR and d,1-fenfluramine.		1-fenfluramine									
154376		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807		Henckaerts, L. C.  et al. 2007	17595233				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3			CDC GDP info	7096	Hs.575090			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		601194		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
154381	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Boraska Jelavic, T.  et al. 2006	16879199				Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Clin Genet    2006    70(2)    156-60	Microsatelite GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer		603028		CDC	2006	we report an association of microsatelite GT polymorphisms of TLR2 gene and Asp299Gly polymorphism of the TLR4 gene with sporadic colorectal cancer among Croatians.											
154385	Y	amyloidosis Familial Mediterranean Fever	METABOLIC	MET	Familial Mediterranean Fever|Amyloidosis|Genetic Predisposition to Disease	4	4q32	TLR2	154824890	154846692		Ozen, S.  et al. 2006	17013994	TLR2  Arg753Gln			Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3	Turkish		CDC GDP info	7097	Hs.519033			J Rheumatol    2006	Arg753Gln TLR-2 Polymorphism in Familial Mediterranean Fever		603028		CDC	2006	The Arg753Gln polymorphism may affect the severity of this monogenic disease by influencing the innate immune response to pathogens.											
154401	Y	sarcoidosis	IMMUNE	IMM	Sarcoidosis|Acute Disease|Chronic Disease	4	4q32	TLR2	154824890	154846692		Veltkamp, M.  et al. 2007	17565608			Intron	Toll-like receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003264.3			CDC GDP info	7097	Hs.519033			Clin Exp Immunol    2007	Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms		603028		CDC	2007	the data show that polymorphisms in TLR-2 might be important in a small group of sarcoidosis patients and that their functional consequences explain partly some of the variance in cytokine pattern observed in different clinical phenotypes of this disease.											
154407	N	graft-versus-host disease	IMMUNE	IMM	Infection|Hematologic Neoplasms|Graft vs Host Disease|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		Elmaagacli, A. H.  et al. 2006	16436969				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Transplantation    2006    81(2)    247-254	Mutations in Innate Immune System NOD2/CARD 15 and TLR-4 (Thr399Ile) Genes Influence the Risk for Severe Acute Graft-versus-Host Disease in Patients Who Underwent an Allogeneic Transplantation		603030		CDC	2006	These results suggest that NOD2 mutations have influence on the occurrence of acute GVHD after transplantation.											
154431	N	myocardial infarct	CARDIOVASCULAR	CARD	Myocardial Infarction	9	9q32-q33	TLR4	119506430	119519587		Koch, W.  et al. 2006	16954131				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	Caucasian		CDC GDP info	7099	Hs.174312			Eur Heart J    2006    27(21)    2524-9	Toll-like receptor 4 gene polymorphisms and myocardial infarction		603030		CDC	2006												
154436		angina atherosclerosis, coronary	CARDIOVASCULAR	CARD	Angina Pectoris|Coronary Artery Disease|Acute Disease	9	9q32-q33	TLR4	119506430	119519587		O'halloran, A. M.  et al. 2006	17044867				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Ann Hum Genet    2006    70(Pt 6)    934-45	The impact on coronary artery disease of common polymorphisms known to modulate responses to pathogens		603030		CDC	2006												
154448		respiratory syncytial virus	INFECTION	INF	Respiratory Syncytial Virus Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Puthothu, B.  et al. 2006	17264400				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Dis Markers    2006    22(5-6)    303-8	TLR-4 and CD14 polymorphisms in respiratory syncytial virus associated disease		603030		CDC	2006												
154456		Crohn's disease	IMMUNE	IMM		9	9q32-q33	TLR4	119506430	119519587		Leshinsky-Silver, E.  et al. 2007	17333217				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2	German;Israeli		CDC GDP info	7099	Hs.174312			Int J Colorectal Dis    2007	Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort		603030		CDC	2007	The contribution of population diversity to susceptibility genes for CD plays an important role in disease-associated variants and is important for better understanding of the pathologic mechanisms of the polymorphism.											
154472		cytomegalovirus infection, post allograft kidney transplant	INFECTION	INF	Bacterial Infections|Cytomegalovirus Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Cervera, C.  et al. 2007	17565323				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			Transplantation    2007    83(11)    1493-1500	The Influence of Innate Immunity Gene Receptors Polymorphisms in Renal Transplant Infections		603030		CDC	2007	Polymorphisms of innate immunity receptors, especially TLR4 mutation, were associated with higher risk of CMV disease, while susceptibility to other infectious disorders was not observed.											
154476		Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Crohn Disease|Genetic Predisposition to Disease	1	1q41-q42	TLR5	221350206	221383247		Gewirtz, A. T.  et al. 2006	16439468				Toll-like receptor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003268.3	Jewish		CDC GDP info	7100	Hs.135853			Am J Physiol Gastrointest Liver Physiol    2006	Dominant-Negative TLR5 Polymorphism Reduces Adaptive Immune Response to Flagellin and negatively associates with Crohn's Disease		603031		CDC	2006												
154481		antibody formation Crohn's disease ulcerative colitis	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	4	4p14	TLR6	38504802	38507555		Henckaerts, L. C.  et al. 2007	17595233				Toll-like receptor 6	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB020807			CDC GDP info	10333	Hs.366986			Gut    2007	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease		605403		CDC	2007	We found that variants in innate immune receptor genes influence antibody formation against microbial epitopes.											
154490	N	Crohn's disease	IMMUNE	IMM	Crohn Disease|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Devlin, S. M.  et al. 2006	17258734				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2			CDC GDP info	54106	Hs.87968			Gastroenterology    2006	NOD2 Variants and Antibody Response to Microbial Antigens in Crohn's Disease Patients and Their Unaffected Relatives		605474		CDC	2006	Patients with Crohn\s disease and unaffected relatives carrying variants of the NOD2 gene have increased adaptive immune responses to microbial antigens.											
154495	N	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	3	3p21.3	TLR9	52230137	52248223		Demirci, F. Y.  et al. 2007	17516623				Toll-like receptor 9	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_017442.2	Caucasian		CDC GDP info	54106	Hs.87968			J Rheumatol    2007	Association Study of Toll-like Receptor 5 (TLR5) and Toll-like Receptor 9 (TLR9) Polymorphisms in Systemic Lupus Erythematosus		605474		CDC	2007	Our results do not indicate a major influence of these putative functional TLR SNP on the susceptibility to (or protection from) SLE.											
154504	N	bacterial vaginosis	INFECTION	INF	Bacterial Infections|Pregnancy Complications, Infectious|Vaginal Diseases	6	6p21.3	TNF	31651328	31654091			16202743				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Am J Obstet Gynecol    2005    193(4)    1478-85	Differences in inflammatory cytokine and Toll-like receptor genes and bacterial vaginosis in pregnancy		191160		CDC	2005	After controlling for race, polymorphisms at the IL1beta Exon 5 +3954, IL6-174, and IL8-845 loci were associated with an altered rate of BV in pregnancy.											
154505	Y	cirrhosis, alcoholic	CHEMDEPENDENCY	CHEM	Liver Cirrhosis, Alcoholic|Alcoholism|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Pastor, I. J.  et al. 2005	16340448				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2		Spain	CDC GDP info	7124	Hs.241570			Alcohol Clin Exp Res    2005    29(11)    1928-31	-238 G>A polymorphism of tumor necrosis factor alpha gene (TNFA) is associated with alcoholic liver cirrhosis in alcoholic Spanish men		191160		CDC	2005	The -238 TNFA-A allele is associated with a higher risk to develop alcoholic liver cirrhosis. This polymorphism could be considered as a genetic factors that confer predisposition to suffer liver cirrhosis in the alcoholic population of Castile and Le\x{f3}n.											
154509	N	hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic	6	6p21.3	TNF	31651328	31654091			16425360				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			World J Gastroenterol    2005    11(42)    6656-61	Effect of cytokine gene polymorphism on histological activity index, viral load and response to treatment in patients with chronic hepatitis C genotype 3		191160		CDC	2005	There is no significant correlation between cytokine polymorphisms and HAI except for the polymorphisms of anti-inflammatory cytokine IL-10, which may influence hepatic inflammatory activity and fibrosis in patients with chronic hepatitis C genotype 3. Sustained virological response in this genotype does not seem to be influenced by cytokine gene polymorphis		interferon ribavirin									
154538		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Disease Susceptibility|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Forte, G. I.  et al. 2006	16803996				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1067    264-9	Search for genetic factors associated with susceptibility to multiple sclerosis		191160		CDC	2006												
154545	N	stroke, ischemic	CARDIOVASCULAR	CARD	Brain Ischemia|Cerebrovascular Accident	6	6p21.3	TNF	31651328	31654091		Lalouschek, W.  et al. 2006	16879054				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Clin Chem Lab Med    2006    44(8)    918-23	Polymorphisms of the inflammatory system and risk of ischemic cerebrovascular events		191160		CDC	2006	In our study none of the investigated polymorphisms of the inflammatory system was associated with the risk of acute cerebrovascular events before the age of 60 years.		febrile episode									
154548		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Licastro, F.  et al. 2006	16930778				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Neurobiol Aging    2006	Genetic risk profiles for Alzheimer's disease		191160		CDC	2006												
154556		graft-versus-host disease	IMMUNE	IMM	Hematologic Diseases|Graft vs Host Disease	6	6p21.3	TNF	31651328	31654091		Bertinetto, F. E.  et al. 2006	16984283				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Int J Immunogenet    2006    33(5)    375-384	Role of non-HLA genetic polymorphisms in graft-versus-host disease after haematopoietic stem cell transplantation		191160		CDC	2006												
154564	Y	limb deficiency anomalies	DEVELOPMENTAL	DEV	Limb Deformities, Congenital|Inflammation	6	6p21.3	TNF	31651328	31654091		Carmichael, S. L.  et al. 2006	17036337				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Am J Med Genet A    2006	Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation		191160		CDC	2006			smoking (tobacco), maternal vitamins, maternal usage									
154568		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	6	6p21.3	TNF	31651328	31654091		Nomura, A.  et al. 2006	17105909				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1074    116-124	Association Study of the Tumor Necrosis Factor-{alpha} Gene and Its 1A Receptor Gene with Methamphetamine Dependence		191160		CDC	2006												
154577	N	diabetes, type 2 glucose tolerance lipids obesity, localized	METABOLIC	MET	Diabetes Mellitus, Type 2|Insulin Resistance|Obesity	6	6p21.3	TNF	31651328	31654091		Santos, M. = JL et al. 2006	17167711			promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Rev Med Chil    2006    134(9)    1099-106	Association between tumor necrosis factor-alpha promoter polymorphisms and type 2 diabetes and obesity in Chilean elderly women.		191160		CDC	2006	It is unlikely that polymorphisms in the promoter region of the TNF-alpha gene have a major influence in obesity and diabetes phenotypes in Chilean elderly women.											
154605		multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Amirzargar, A.  et al. 2007	17439892				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Mult Scler    2007    13(2)    253-5	Profile of cytokine gene polymorphisms in Iranian multiple sclerosis patients		191160		CDC	2007												
154611		paratyphoid feber typhoid fever	INFECTION	INF	Paratyphoid Fever|Typhoid Fever|Disease Susceptibility|Inflammation	6	6p21.3	TNF	31651328	31654091		Ali, S.  et al. 2007	17477815				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			J Interferon Cytokine Res    2007    27(4)    271-80	Polymorphisms in proinflammatory genes and susceptibility to typhoid Fever and paratyphoid Fever		191160		CDC	2007												
154616		periodontal disease	IMMUNE	IMM	Abscess|Periapical Periodontitis|Tooth Diseases|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		de Sa, A. R.  et al. 2007	17511783				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Int Endod J    2007	Association of CD14, IL1B, IL6, IL10 and TNFA functional gene polymorphisms with symptomatic dental abscesses		191160		CDC	2007	The present study suggests that genetic factors are associated with susceptibility to develop symptomatic dental abscesses.											
154619		brucellosis	INFECTION	INF	Brucellosis|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Budak, F.  et al. 2007	17544674				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Turkish		CDC GDP info	7124	Hs.241570			Cytokine    2007	IL-10 and IL-6 gene polymorphisms as potential host susceptibility factors in Brucellosis		191160		CDC	2007												
154650	Y	aneurysm, intracranial	CARDIOVASCULAR	CARD	Intracranial Aneurysm|Genetic Predisposition to Disease	17	17p11.2	TNFRSF13B	16783122	16816127		Inoue, K.  et al. 2006	16618819				Tumor necrosis factor receptor superfamily, member 13B	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK097261			CDC GDP info	23495	Hs.158341			Circulation    2006	Search on Chromosome 17 Centromere Reveals TNFRSF13B as a Susceptibility Gene for Intracranial Aneurysm. A Preliminary Study		604907		CDC	2006	We propose that TNFRSF13B is one of the susceptibility genes for IA.											
154660		methamphetamine abuse	CHEMDEPENDENCY	CHEM	Amphetamine-Related Disorders	12	12p13.2	TNFRSF1A	6308183	6321522		Nomura, A.  et al. 2006	17105909				Tumor necrosis factor receptor superfamily, member 1A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001065.2			CDC GDP info	7132	Hs.279594			Ann N Y Acad Sci    2006    1074    116-124	Association Study of the Tumor Necrosis Factor-{alpha} Gene and Its 1A Receptor Gene with Methamphetamine Dependence		191190		CDC	2006												
154682		bone density	METABOLIC	MET	Osteoporosis, Postmenopausal	13	13q14	TNFSF11	42043715	42080148		Mencej, S.  et al. 2006	16730419			promoter	Tumor necrosis factor (ligand) superfamily, member 11	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003701.2			CDC GDP info	8600	Hs.333791			Maturitas    2006	Association of TNFSF11 gene promoter polymorphisms with bone mineral density in postmenopausal women		602642		CDC	2006	Four sequence variations were identified in the studied region of TNFSF11 gene promoter.											
154699		schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	6	6p21.3	TNXB	32116910	32185131		Tochigi, M.  et al. 2006	17192952				Tenascin XB	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019105.5			CDC GDP info	7148	Hs.42853			Am J Med Genet B Neuropsychiatr Genet    2006	Association study between the TNXB locus and schizophrenia in a Japanese population		600985		CDC	2006												
154703		dystonia, primary	NEUROLOGICAL	NEUR	Dystonic Disorders	9	9q34	TOR1A	131615041	131626262		Jamora, R. D.  et al. 2006	16631205				Torsin family 1, member A (torsin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000113.2	Ashkenazi;Jewish;Singapore	Malaysia||India	CDC GDP info	1861	Hs.534312			J Neurol Sci    2006	DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West		128100		CDC	2006	DYT1 mutations are uncommon amongst adult primary dystonia patients in Singapore.											
154717		myelodysplastic syndrome	OTHER	OTH	Myelodysplastic Syndromes	17	17p13.1	TP53	7505821	7531642		Jekic, B.  et al. 2006	16631474				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Cancer Genet Cytogenet    2006    166(2)    163-5	Lack of TP53 and FMS gene mutations in children with myelodysplastic syndrome		191170		CDC	2006												
154726		bladder cancer leukemia lung cancer upper aerodigestive tract cancer	CANCER	CAN	Leukemia|Lung Neoplasms|Urinary Bladder Neoplasms	17	17p13.1	TP53	7505821	7531642		Gormally, E. et. al.  et al. 2006	16818665				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2	European		CDC GDP info	7157	Hs.408312			Cancer Res    2006    66(13)    6871-6876	TP53 and KRAS2 Mutations in Plasma DNA of Healthy Subjects and Subsequent Cancer Occurrence		191170		CDC	2006			smoking (tobacco)									
154730		lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	17	17p13.1	TP53	7505821	7531642		Szymanowska, A.  et al. 2005	16989164				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2		Poland	CDC GDP info	7157	Hs.408312			Pneumonol Alergol Pol    2005    73(3)    264-9	Analysis of prognostic value of TP53 gene mutations in non-small cell lung cancer		191170		CDC	2005												
154733	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis	17	17p13.1	TP53	7505821	7531642		Talseth, B. A.  et al. 2006	17096342				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Int J Cancer    2006	MDM2 SNP309 T>G alone or in combination with the TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients		191170		CDC	2006	the data indicates the G allele of MDM2 SNP309 might have a protective effect on disease development in HNPCC patients and that age of diagnosis of CRC is not associated with MDM2 SNP309 or TP53 R72P either as single SNPs or combined.											
154754		attention deficit disorder conduct disorder oppositional defiant disorder	PSYCH	PSY		11	11p15.3-p14	TPH1	17999113	18018885		Comings, D. E.  et al. 2000	11140838				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Clin Genet    2000    58    375-85	A multivariate analysis of 59 candidate genes in personality traits		191060		CDC	2000	While there was some tendency for this to be true, a more important trend was the involvement of different ratios of functionally related groups of genes, and of different genotypes of the same genes, for different traits. 											
154761	Y	psychosis schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Zaboli, G.  et al. 2006	16806098				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1	Caucasian;European		CDC GDP info	7166	Hs.591999			Biol Psychiatry    2006	Tryptophan Hydroxylase-1 Gene Variants Associated with Schizophrenia		191060		CDC	2006	"Our data indicate that TPH-1 associates with schizophrenia. It appears that specific combinations of promoter variants vis-\x{e0}-vis gene transcript variants contribute to genetic predisposition to the disease."""											
154765		autism	PSYCH	PSY	Obsessive-Compulsive Disorder|Autistic Disorder	11	11p15.3-p14	TPH1	17999113	18018885		Ramoz, N.  et al. 2006	16958027				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			Am J Med Genet B Neuropsychiatr Genet    2006	Family-based association study of TPH1 and TPH2 polymorphisms in autism		191060		CDC	2006												
154770	Y	depression	PSYCH	PSY	Genetic Predisposition to Disease	11	11p15.3-p14	TPH1	17999113	18018885		Jokela, M.  et al. 2006	17134762				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			J Affect Disord    2006	Tryptophan hydroxylase 1 gene (TPH1) moderates the influence of social support on depressive symptoms in adults		191060		CDC	2006	TPH1 gene may be involved in the development of depressive symptoms by moderating the impact of depressogenic social influences.		social support									
154775		schizophrenia	PHARMACOGENOMIC	PHARM	Schizophrenia	11	11p15.3-p14	TPH1	17999113	18018885		Anttila, S.  et al. 2007	17521439				Tryptophan hydroxylase 1 (tryptophan 5-monooxygenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004179.1			CDC GDP info	7166	Hs.591999			BMC Psychiatry    2007    7(1)    22	Association between 5-HT2A, TPH1 and GNB3 genotypes and response to typical neuroleptics		191060		CDC	2007	More findings on the consequences of functional polymorphisms for the role of serotonin in the development of brain and serotonergic neurotransmission are needed before more detailed hypotheses regarding susceptibility and outcome in schizophrenia can be formulated.		neuroleptic response									
154779		chronic fatigue syndrome	OTHER	OTH	Fatigue Syndrome, Chronic	12	12q21.1	TPH2	70618892	70712488		Smith, A. K.  et al. 2006	16610949				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Pharmacogenomics    2006    7(3)    387-394	Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue		607478		CDC	2006												
154782		emotion regulation	PSYCH	PSY		12	12q21.1	TPH2	70618892	70712488		Herrmann, M. J.  et al. 2006	16801378				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Cereb Cortex    2006	Additive Effects of Serotonin Transporter and Tryptophan Hydroxylase-2 Gene Variation on Emotional Processing		607478		CDC	2006												
154786	Y	suicide	PSYCH	PSY	Depressive Disorder, Major	12	12q21.1	TPH2	70618892	70712488		Ke, L.  et al. 2006	17011525	A-G polymorphism of TPH2			Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Brain Res    2006	Effect of SNP at position 40237 in exon 7 of the TPH2 gene on susceptibility to suicide		607478		CDC	2006	Our findings suggest that the A-G polymorphism of TPH2 may confer susceptibility to suicide behavior in MD patients.											
154790	Y	bipolar disorder depressive disorder, major	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	12	12q21.1	TPH2	70618892	70712488		Harvey, M.  et al. 2007	17167340				Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2	Canadian;French	France	CDC GDP info	121278	Hs.376337			Psychiatr Genet    2007    17(1)    17-22	Polymorphisms in the neuronal isoform of tryptophan hydroxylase 2 are associated with bipolar disorder in French Canadian pedigrees		607478		CDC	2007	Case-control and family-based association studies further support the presence of a susceptibility locus for bipolar disorder in tryptophan hydroxylase 2 by showing statistically significant associations with both, single nucleotide polymorphism alone and haplotype of single nucleotide polymorphism markers.											
154793	Y	suicide	PSYCH	PSY	Genetic Predisposition to Disease|Depressive Disorder, Major	12	12q21.1	TPH2	70618892	70712488		de Lara, C. L.  et al. 2007	17217922	TPH2 gene and its 5\ upstream region variants			Tryptophan hydroxylase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173353.2			CDC GDP info	121278	Hs.376337			Biol Psychiatry    2007	Effect of Tryptophan Hydroxylase-2 Gene Variants on Suicide Risk in Major Depression		607478		CDC	2007	The TPH2 gene and its 5\ upstream region variants may be involved in the predisposition to suicide in MDD; however, our findings do not support the role of IABs as mediators.											
154819		methotrexate toxicity	PHARMACOGENOMIC	PHARM		6	6p22.3	TPMT	18236523	18263353		Pakakasama, S.  et al. 2007	17323057				Thiopurine S-methyltransferase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000367.2			CDC GDP info	7172	Hs.444319			Ann Hematol    2007	Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia		187680		CDC	2007												
154831		tuberous sclerosis	DEVELOPMENTAL	DEV	Tuberous Sclerosis|Genetic Predisposition to Disease	9	9q34	TSC1	134756556	134809841		Au, K. S.  et al. 2007	17304050				Tuberous sclerosis 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000368.3			CDC GDP info	7248	Hs.370854			Genet Med    2007    9(2)    88-100	Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States		605284		CDC	2007												
154835		thyroid homeostasis	METABOLIC	MET		14	14q31	TSHR	80491621	80682399		Hansen, P. S.  et al. 2007	17408420				Thyroid stimulating hormone receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000369.2	Danish		CDC GDP info	7253	Hs.160411			Clin Endocrinol (Oxf)    2007	The impact of a TSH receptor gene polymorphism on thyroid-related phenotypes in a healthy Danish twin population		603372		CDC	2007	The TSHR-727Glu allele was associated with decreasing TSH levels; however, the contribution to the genetic variance was very small. No association was found with other thyroid-related measures.											
154840	Y	nicotine dependence	CHEMDEPENDENCY	CHEM	Cocaine-Related Disorders|Opioid-Related Disorders|Tobacco Use Disorder|Genetic Predisposition to Disease	11	11q23.1	TTC12	112690460	112749228		Gelernter, J.  et al. 2006	17085484				Tetratricopeptide repeat domain 12	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK125909	European		CDC GDP info	54970	Hs.288772			Hum Mol Genet    2006	Haplotype Spanning TTC12 and ANKK1, Flanked By the DRD2 and NCAM1 Loci, is Strongly Associated to Nicotine Dependence in Two Distinct American Populations		610732		CDC	2006	a risk locus for ND, important both in AAs and EAs, maps to a region that spans TTC12 and ANKK1.											
154853		breast cancer	CANCER	CAN	Carcinoma, Ductal, Breast|Carcinoma, Lobular|Breast Neoplasms|Carcinoma, Ductal, Breast	12	12q23-q24.1	TXNRD1	103130617	103268192		Oestergaard, M. Z.  et al. 2006	16868544				Thioredoxin reductase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003330			CDC GDP info	7296	Hs.696144			Br J Cancer    2006    95(4)    525-31	Interactions between genes involved in the antioxidant defence system and breast cancer risk		601112		CDC	2006												
154856	Y	lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	19	19p13.2	TYK2	10322208	10352211		Graham, D. S.  et al. 2007	17384181				Tyrosine kinase 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003331			CDC GDP info	7297	Hs.75516			Rheumatology (Oxford)    2007	Association of polymorphisms across the tyrosine kinase gene, TYK2 in UK SLE families		176941		CDC	2007	We have shown association to SLE from individual SNPs and haplotypes in TYK2.											
154859	Y	lung cancer	CANCER	CAN	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	18	18p11.32	TYMS	647650	663492		Takehara, A.  et al. 2005	16334126				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Anticancer Res    2005    25(6C)    4455-61	Prognostic significance of the polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase gene in lung cancer		188350		CDC	2005	The TS and MTHFR genotypes can be prognostic factors in NSCLC, where gene-gene interactions between the genotypes may occur. Further validation and investigation of the involvement of genotypes of folate metabolizing enzymes in the prognosis of NSCLC patients are required.											
154870		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	18	18p11.32	TYMS	647650	663492		Ott, K.  et al. 2006	16929515			promoter	Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Int J Cancer    2006	The thymidylate synthase tandem repeat promoter polymorphism		188350		CDC	2006			5-flurouracil									
154891		esophageal cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Squamous Cell|Esophageal Neoplasms	18	18p11.32	TYMS	647650	663492		Okuno, T.  et al. 2007	17551301				Thymidylate synthetase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001071.1			CDC GDP info	7298	Hs.592338			Am J Clin Oncol    2007    30(3)    252-7	Favorable genetic polymorphisms predictive of clinical outcome of chemoradiotherapy for stage II/III esophageal squamous cell carcinoma in Japanese		188350		CDC	2007	The prognostic index may allow predictions of the clinical outcome of a 5-FU/CDDP-based CRT in stage II/III ESCC patients.		5-flurouracil cisplatin physical activity radiation									
154900	N	Parkinson's disease	NEUROLOGICAL	NEUR		4	4p14	UCHL1	40953685	40965203		Levecque, C.  et al. 2001	11685636				Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004181.3			CDC GDP info	7345	Hs.518731			J Neural Transm    2001    108(8-9)    979-984	No genetic association of the Ubiquitin Carboxy-terminal Hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease		191342		CDC	2001	No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility. 											
154917	Y	oxidative stress	METABOLIC	MET	Coronary Disease|Diabetes Mellitus, Type 1|Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	11	11q13	UCP2	73363363	73371537		Stephens, J. W.  et al. 2007	17555951	UCP2 -866G>A			Uncoupling protein 2 (mitochondrial, proton carrier)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003355.2	Caucasian		CDC GDP info	7351	Hs.80658			Nutr Metab Cardiovasc Dis    2007	Interaction between the uncoupling protein 2 -866G>A gene variant and cigarette smoking to increase oxidative stress in subjects with diabetes		601693		CDC	2007	This study demonstrates an interaction between the UCP2 -866G>A variant and smoking to increase oxidative stress in vivo.		smoking (tobacco)									
154944		endometrial cancer	PHARMACOGENOMIC	PHARM	Endometrial Neoplasms	2	2q37	UGT1A1	234191029	234346690		Rebbeck, T. R.  et al. 2006	16985250				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409		Philadelphia	CDC GDP info	54658	Hs.554822			J Natl Cancer Inst    2006    98(18)    1311-20	Estrogen sulfation genes, hormone replacement therapy, and endometrial cancer risk		191740		CDC	2006	Among women with long-term use of estrogen replacement therapy or combined hormone replacement therapy, the risk of endometrial cancer may be associated with functionally relevant genotypes that regulate steroid hormone sulfation.		hormone replacement therapy									
154950		irinotecan toxicity	PHARMACOGENOMIC	PHARM	Lymphoma|Neutropenia	2	2q37	UGT1A1	234191029	234346690		Ramchandani, R. P.  et al. 2007	17192505				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			J Clin Pharmacol    2007    47(1)    78-86	The Role of SN-38 Exposure, UGT1A1*28 Polymorphism, and Baseline Bilirubin Level in Predicting Severe Irinotecan Toxicity		191740		CDC	2007												
154953		carvedilol phamacokinetics	PHARMACOGENOMIC	PHARM	Heart Failure|Chronic Disease	2	2q37	UGT1A1	234191029	234346690		Takekuma, Y.  et al. 2007	17329852				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Biol Pharm Bull    2007    30(3)    537-42	Evaluation of effects of polymorphism for metabolic enzymes on pharmacokinetics of carvedilol by population pharmacokinetic analysis		191740		CDC	2007												
154960	Y	1-hydroxypyrene, urinary	METABOLIC	MET		2	2q37	UGT1A1	234191029	234346690		Chen, B.  et al. 2007	17498780				UDP glucuronosyltransferase 1 family, polypeptide A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC011409			CDC GDP info	54658	Hs.554822			Sci Total Environ    2007	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers		191740		CDC	2007												
154977	Y	irinotecan pharmacokinetics	PHARMACOGENOMIC	PHARM	Neoplasms	2	2q37	UGT1A7	234191029	234346690		Fujita, K. I.  et al. 2007	17406868				UDP glycosyltransferase 1 family, polypeptide A7				CDC GDP info	54577	HS.278896			Cancer Chemother Pharmacol    2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6 is associated with reduced activity for SN-38 in Japanese patients with cancer		606432		CDC	2007	Genetic linkage of UGT1A7 and UGT1A9 polymorphisms to UGT1A1*6, related to reduced catalytic and transcriptional activities of UGTs, is associated with the decreased glucuronosyltransferase activity for SN-38 in Japanese patients with cancer.											
154987		mycophenolic acid pharmacokinetics	PHARMACOGENOMIC	PHARM		2	2q37	UGT1A9	234191029	234346690		Inoue, K.  et al. 2007	17529886			Intron	UDP glycosyltransferase 1 family, polypeptide A9				CDC GDP info	54600	Hs.124112			Ther Drug Monit    2007    29(3)    299-304	Influence of UGT1A7 and UGT1A9 Intronic I399 Genetic Polymorphisms on Mycophenolic Acid Pharmacokinetics in Japanese Renal Transplant Recipients		606434		CDC	2007												
155010	Y	sex steroids	METABOLIC	MET		4	4q13	UGT2B7	69996813	70013293		Swanson, C.  et al. 2007	17579197				UDP glucuronosyltransferase 2 family, polypeptide B7	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001074.1			CDC GDP info	7364	Hs.631944			J Clin Endocrinol Metab    2007	Sex Steroid Levels and Cortical Bone Size in Young Men is Associated with a Glucuronidation Enzyme UGT2B7 Polymorphism (H268Y)		600068		CDC	2007	The UGT2B7 H(268)Y polymorphism is independently associated with cortical bone size and serum sex steroid levels in young adult men.											
155013	Y	Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	1	1q22-q23	USF1	159275664	159282381		Shibata, N.  et al. 2006	16870626				Upstream transcription factor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_007122.3			CDC GDP info	7391	Hs.414880			J Gerontol A Biol Sci Med Sci    2006    61(7)    660-2	Genetic Association Between USF 1 and USF 2 Gene Polymorphisms and Japanese Alzheimer's Disease		191523		CDC	2006												
155025	Y	diabetes, gestational	METABOLIC	MET	Diabetes, Gestational|Genetic Predisposition to Disease	1	1p36	UTS2	7825729	7895881		Tan, Y. J.  et al. 2006	17327028				Urotensin 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_021995.1			CDC GDP info	10911	Hs.162200			Zhonghua Fu Chan Ke Za Zhi    2006    41(11)    732-5	Role of urotensin II gene in the genetic susceptibility to gestational diabetes mellitus in northern Chinese women.		604097		CDC	2006	Urotensin II gene may contribute to the genetic susceptibility to gestational diabetes mellitus in northern Chinese population.											
155032	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	1	1p32-p31	VCAM1	100957884	100977189		Carlson, C. S.  et al. 2006	17115186				Vascular cell adhesion molecule 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001078.2			CDC GDP info	7412	Hs.109225			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		192225		CDC	2006												
155034	N	dementia, frontotemporal	PSYCH	PSY		9	9p13.3	VCP	35046559	35062564		Schumacher, A.  et al. 2007	17618707				Valosin-containing protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC110913	German		CDC GDP info	7415	Hs.529782			Neurobiol Aging    2007	No association of common VCP variants with sporadic frontotemporal dementia		601023		CDC	2007												
155042	Y	Vitamin D deficiency rickets	HEMATOLOGICAL	HEM	Rickets|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Wu, S. H.  et al. 2006	16613705				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhongguo Dang Dai Er Ke Za Zhi    2006    8(2)    121-4	Association between vitamin D receptor gene polymorphism and vitamin D deficiency rickets.		601769		CDC	2006	There is an association between the VDR gene Fok I polymorphism and vitamin D deficiency rickets.											
155045	Y	calcium	NORMALVARIATION	NV		12	12q12-q14	VDR	46521586	46585081		Huang, Z. W.  et al. 2006	16640898				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(2)    75-8	Relationship between the absorption of dietary calcium and the Fok I polymorphism of VDR gene in young women.		601769		CDC	2006	Our results were consistent with those gained from the previous studies on children about the relationship between the absorption of dietary calcium and VDR (Vitamin D(3) receptor, VDR) gene RFLPs, and now it might occur in young women.											
155056		melanoma	CANCER	CAN	Melanoma|Skin Neoplasms|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Povey, J. E.  et al. 2007	17210993				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376	Scottish		CDC GDP info	7421	Hs.524368			Carcinogenesis    2007	DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma		601769		CDC	2007												
155057	N	breast cancer	CANCER	CAN	Breast Neoplasms	12	12q12-q14	VDR	46521586	46585081		McCullough, M. L.  et al. 2007	17244366				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Breast Cancer Res    2007    9(1)    R9	Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer		601769		CDC	2007	We found no overall association between selected vitamin D pathway genes and postmenopausal breast cancer risk.		calcium									
155062		disc degeneration, intervertebral	AGING	AGE	Intervertebral Disk Displacement|Occupational Diseases|Genetic Predisposition to Disease	12	12q12-q14	VDR	46521586	46585081		Virtanen, I. M.  et al. 2007	17471097				Vitamin D (1,25- dihydroxyvitamin D3) receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000376			CDC GDP info	7421	Hs.524368			Spine    2007    32(10)    1129-34	Occupational and genetic risk factors associated with intervertebral disc disease		601769		CDC	2007	The results suggest that whole-body vibration is a risk factor for symptomatic IDD. Moreover, whole-body vibration had an additive effect with genetic risk factors increasing the likelihood of belonging to the IDD-phenotype group. Of the independent genetic markers, IL1A -889T allele had strongest association with IDD-phenotype.											
155068		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Mateo, I.  et al. 2006	16569480				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Neurosci Lett    2006	Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease		192240		CDC	2006												
155071		breast cancer	CANCER	CAN	Breast Neoplasms|Neoplasm Invasiveness|Neovascularization, Pathologic	6	6p12	VEGFA	43845930	43862201		Jacobs, E. J.  et al. 2006	16613616				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Breast Cancer Res    2006    8(2)    R22	Polymorphisms in the vascular endothelial growth factor gene and breast cancer in the Cancer Prevention Study II cohort		192240		CDC	2006	Our findings provide limited support for the hypothesis that the -2578C and -1154G VEGF alleles are associated with increased risk for invasive but not in situ breast cancer in postmenopausal women.											
155079		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Kataoka, N.  et al. 2006	16775174				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366		China	CDC GDP info	7422	Hs.73793			Cancer Epidemiol Biomarkers Prev    2006    15(6)    1148-52	Population-Based Case-Control Study of VEGF Gene Polymorphisms and Breast Cancer Risk among Chinese Women		192240		CDC	2006												
155084	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Sfar, S.  et al. 2006	16908180				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Cytokine    2006	Association of VEGF genetic polymorphisms with prostate carcinoma risk and clinical outcome		192240		CDC	2006	Genetic variations in the VEGF may predict not only PCa risk but also tumor aggressiveness.											
155087	N	inflammatory bowel disease	IMMUNE	IMM	Inflammatory Bowel Diseases|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Ferrante, M.  et al. 2006	16954806				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Inflamm Bowel Dis    2006    12(9)    870-878	The Role of Vascular Endothelial Growth Factor (VEGF) in Inflammatory Bowel Disease		192240		CDC	2006	The VEGF polymorphisms studied are not implicated in susceptibility to IBD and do not predict sVEGF levels.											
155092	N	ALS/amyotrophic lateral sclerosis	NEUROLOGICAL	NEUR		6	6p12	VEGFA	43845930	43862201		Del Bo, R.  et al. 2006	17113198				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Italian		CDC GDP info	7422	Hs.73793			Neurobiol Aging    2006	Absence of angiogenic genes modification in Italian ALS patients		192240		CDC	2006	our data argue against the hypothesis of both genes as risk factors for motoneuron neurodegeneration, at least in an Italian population.											
155097	N	prostate cancer	CANCER	CAN		6	6p12	VEGFA	43845930	43862201		Onen, I. H.  et al. 2007	17216542				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Turkish		CDC GDP info	7422	Hs.73793			Mol Biol Rep    2007	No association between polymorphism in the vascular endothelial growth factor gene at position-460 and sporadic prostate cancer in the Turkish population		192240		CDC	2007												
155101	Y	kidney cancer	CANCER	CAN		6	6p12	VEGFA	43845930	43862201		Kawai, Y.  et al. 2007	17287073				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Eur Urol    2007	Associations of Single Nucleotide Polymorphisms in the Vascular Endothelial Growth Factor Gene with the Characteristics and Prognosis of Renal Cell Carcinomas		192240		CDC	2007	These results suggest that some VEGF genotypes may have effects on RCC progression or prognosis, possibly through altered VEGF expression.											
155116	Y	longevity	AGING	AGE		6	6p12	VEGFA	43845930	43862201		Del Bo, R.  et al. 2007	17574707				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366	Italian		CDC GDP info	7422	Hs.73793			Neurobiol Aging    2007	Role of VEGF gene variability in longevity		192240		CDC	2007												
155126	N	slow transit constipation	OTHER	OTH	Chronic Disease|Constipation	6	6q25	VIP	153113625	153122593		Garcia-Barcelo, M.  et al. 2007	17448763				Vasoactive intestinal peptide	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003381			CDC GDP info	7432	Hs.53973			J Pediatr Surg    2007    42(4)    666-71	Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipation		192320		CDC	2007	Our data indicate that 5 SNPs in the NOS1, TACR1, TACR3, and KIT genes could be involved in STC, especially rs3771863 in intron 1 of TACR1, which showed the highest association.											
155151		warfarin sensitivity	PHARMACOGENOMIC	PHARM		16	16p11.2	VKORC1	31009675	31013777		Osman, A.  et al. 2007	17413769			other	Vitamin K epoxide reductase complex, subunit 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_024006.4			CDC GDP info	79001	Hs.324844			Blood Coagul Fibrinolysis    2007    18(3)    293-6	Plasma S/R ratio of warfarin co-varies with VKORC1 haplotype		608547		CDC	2007	We speculate that VKORC1 haplotypes possibly are linked to some unidentified factors involved in the metabolic clearance of warfarin enantiomers. Dose-dependent variations in (S)-warfarin and (R)-warfarin clearance in these patients can also be a probable explanation for the difference in warfarin S/R ratios.											
155158	Y	blood pressure, arterial hypertension	CARDIOVASCULAR	CARD	Hypertension	12	12p13.3	VWF	5928300	6104097		Kokubo, Y.  et al. 2006	17137217				Von Willebrand factor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000552.3			CDC GDP info	7450	Hs.440848			Hypertens Res    2006    29(8)    611-9	Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension		193400		CDC	2006												
155161	N	glaucoma, primary open-angle	VISION	VIS	Glaucoma, Open-Angle	5	5q22.1	WDR36	110455768	110494099		Hauser, M. A.  et al. 2006	16723468				WD repeat domain 36	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_139281			CDC GDP info	134430	Hs.533237			Invest Ophthalmol Vis Sci    2006    47(6)    2542-6	Distribution of WDR36 DNA Sequence Variants in Patients with Primary Open-Angle Glaucoma		609669		CDC	2006	The results of this study suggest that abnormalities in WDR36 alone are not sufficient to cause POAG.											
155178	Y	memory disturbance	AGING	AGE		5	5q35.1	WWC1	167651669	167829342		Schaper, K.  et al. 2007	17353070				WW and C2 domain containing 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_015238			CDC GDP info	23286	Hs.484047			Neurobiol Aging    2007	KIBRA gene variants are associated with episodic memory in healthy elderly		610533		CDC	2007												
155182		leukemia, acute myeloblastic	PHARMACOGENOMIC	PHARM	Leukemia, Myeloid, Acute|Leukemia, Myelocytic, Acute|Recurrence	9	9q22.3	XPA	99477011	99499460		Monzo, M.  et al. 2006	16507781				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2	French		CDC GDP info	7507	Hs.591907			Blood    2006	Genomic polymorphisms provide prognostic information in intermediate-risk acute myeloblastic leukemia		278700		CDC	2006			chemotherapy									
155188		cytogenetic studies	OTHER	OTH		9	9q22.3	XPA	99477011	99499460		Laczmanska, I.  et al. 2006	17078101				Xeroderma pigmentosum, complementation group A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000380.2			CDC GDP info	7507	Hs.591907			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		278700		CDC	2006												
155192		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Mechanic, L. E.  et al. 2006	16399771				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Carcinogenesis    2006    27(7)    1377-85	Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites		278720		CDC	2006			smoking (tobacco)									
155198	Y	esophageal cancer gastric cardiac cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	3	3p25	XPC	14161648	14195143		Zhou, R. M.  et al. 2006	16965652				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3			CDC GDP info	7508	Hs.475538			Ai Zheng    2006    25(9)    1113-9	Correlation of XPC Ala499Val and Lys939Gln Polymorphisms to Risks of Esophageal Squamous Cell Carcinoma and Gastric Cardiac Adenocarcinoma.		278720		CDC	2006	In the high incidence region of Hebei Province, C/T genotype of XPC exon 8 may decrease the risk of developing GCA. Lys939Gln SNP in exon 15 may have no influence on the risk of ESCC and GCA, but when stratified for smoking status, C/C genotype of XPC exon 15 may increase the risk of developing ESCC in non-smoking population. While A/C and C/C haplotypes may increase the risk of developing GCA.		family history smoking (tobacco)									
155207	N	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	3	3p25	XPC	14161648	14195143		Hansen, R. D.  et al. 2007	17363013				Xeroderma pigmentosum, complementation group C	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004628.3	Danish		CDC GDP info	7508	Hs.475538			Mutat Res    2007	XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer		278720		CDC	2007	the results of the present study indicate that the four polymorphisms are not of major importance in colorectal cancer carcinogenesis.		alcohol meat smoking (tobacco)									
155220	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Zhang, Y.  et al. 2006	16492928				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1	Caucasian;Polish;Asian		CDC GDP info	7515	Hs.98493			Cancer Epidemiol Biomarkers Prev    2006    15(2)    353-8	Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer		194360		CDC	2006	our results do not support that the polymorphisms evaluated in six BER pathway genes play a major role in breast carcinogenesis, particularly in Caucasian populations.											
155225	N	esophageal cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Squamous Cell|Esophageal Neoplasms|Stomach Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Ye, W.  et al. 2006	16571649				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Carcinogenesis    2006	The XPD 751Gln allele is associated with an increased risk for esophageal adenocarcinoma. A population-based case-control study in Sweden		194360		CDC	2006												
155228		stomach cancer	PHARMACOGENOMIC	PHARM	Stomach Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Ruzzo, A.  et al. 2006	16622263				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			J Clin Oncol    2006    24(12)    1883-91	Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy		194360		CDC	2006	Specific polymorphisms may influence clinical outcomes of AGC patients.		cisplatin fluorouracil									
155244		lung cancer	CANCER	CAN	Lung Neoplasms	19	19q13.2	XRCC1	48739303	48771555		Ryk, C.  et al. 2006	17034901				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Lung Cancer    2006	Polymorphisms in the DNA repair genes XRCC1, APEX1, XRCC3 and NBS1, and the risk for lung cancer in never- and ever-smokers		194360		CDC	2006			smoking (tobacco)									
155246		cytogenetic studies	OTHER	OTH		19	19q13.2	XRCC1	48739303	48771555		Laczmanska, I.  et al. 2006	17078101				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Environ Mol Mutagen    2006	Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency		194360		CDC	2006												
155259	N	colorectal cancer	CANCER	CAN		19	19q13.2	XRCC1	48739303	48771555		Jin, M. J.  et al. 2007	17355790				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Ai Zheng    2007    26(3)    274-9	Correlations of Single Nucleotide Polymorphisms of DNA Repair Gene XRCC1 to Risk of Colorectal Cancer.		194360		CDC	2007	In Han people in southern China, XRCC1 C26304T, G27466A, and G28152A polymorphisms have no correlations to risk of colorectal cancer.											
155268	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms|Genetic Predisposition to Disease	19	19q13.2	XRCC1	48739303	48771555		Xu, Z.  et al. 2007	17491266				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Zhonghua Nan Ke Xue    2007    13(4)    327-31	Relationship between DNA repair gene XRCC1 Arg399Gln polymorphism and susceptibility to prostate cancer in the Han population in Jiangsu and Anhui		194360		CDC	2007	XRCC1 Arg399Gln polymorphism might contribute to the susceptibility to PCa.		alcohol smoking (tobacco)									
155272		colorectal cancer	PHARMACOGENOMIC	PHARM		19	19q13.2	XRCC1	48739303	48771555		Ruzzo, A.  et al. 2007	17549067				X-ray repair complementing defective repair in Chinese hamster cells 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006297.1			CDC GDP info	7515	Hs.98493			Pharmacogenomics J    2007	Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy		194360		CDC	2007			5-flurouracil Irinotecan									
155284		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Dufloth, R. M.  et al. 2005	16475125				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Genet Mol Res    2005    4(4)    771-82	DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil		600675		CDC	2005			family history									
155288		chromosome damage DNA damage	OTHER	OTH		14	14q32.3	XRCC3	103233706	103251549		Iarmarcovai, G.  et al. 2006	16551674				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Mutagenesis    2006	A combined analysis of XRCC1, XRCC3, GSTM1 and GSTT1 polymorphisms and centromere content of micronuclei in welders		600675		CDC	2006												
155299		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	14	14q32.3	XRCC3	103233706	103251549		Costa, S.  et al. 2006	17063276				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Breast Cancer Res Treat    2006	DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility		600675		CDC	2006			family history									
155302	Y	multiple myeloma	CANCER	CAN	Multiple Myeloma	14	14q32.3	XRCC3	103233706	103251549		Vangsted, A.  et al. 2006	17131345				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			Int J Cancer    2006	Polymorphisms in the genes ERCC2, XRCC3 and CD3EAP influence treatment outcome in multiple myeloma patients undergoing autologous bone marrow transplantation		600675		CDC	2006												
155306	Y	colorectal cancer	CANCER	CAN	Colorectal Neoplasms	14	14q32.3	XRCC3	103233706	103251549		Yeh, C. C.  et al. 2006	17191090				X-ray repair complementing defective repair in Chinese hamster cells 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005432.2			CDC GDP info	7517	Hs.592325			J Biomed Sci    2006	Association between polymorphisms of biotransformation and DNA-repair genes and risk of colorectal cancer in Taiwan		600675		CDC	2006												
155317	N	breast cancer	CANCER	CAN	Breast Neoplasms|DNA Damage|Genetic Predisposition to Disease	5	5q13-q14	XRCC4	82409072	82685335		Garcia-Closas, M.  et al. 2006	16485136				X-ray repair complementing defective repair in Chinese hamster cells 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003401.2	Caucasian		CDC GDP info	7518	Hs.567359			Hum Genet    2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer		194363		CDC	2006	the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. Evaluation of potential underlying gene-gene interactions or associations in population subgroups will require even larger sample sizes.											
155325	N	nephropathy, diabetic	RENAL	REN	Diabetic Nephropathies|Diabetes Mellitus, Type 1	16	16p12	XYLT1	17103681	17472239		Bahr, C.  et al. 2006	16759312				Xylosyltransferase I	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_022166.2	Caucasian		CDC GDP info	64131	Hs.585743			Diabet Med    2006    23(6)    681-4	Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy		608124		CDC	2006												
155333		autoimmune diseases rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Autoimmune Diseases	19		ZFP36	44589326	44591885			16546352				Zinc finger protein 36, C3H type, homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003407.1			CDC GDP info	7538	Hs.534052			J Autoimmun    2006	Genetic variations in ZFP36 and their possible relationship to autoimmune diseases		190700		CDC	2006												
146170	P		CANCER	CAN	Neoplasms	2	2p21	CYP1B1	38148249	38156796		Yoshimura, K.  et al. 2003	14634838				Cytochrome P450, family 1, subfamily B, polypeptide 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000104.2			CDC GDP info	1545	Hs.154654			J Hum Genet    2003    48    654-8	Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer		601771		CDC	2003	In the present study, the Japanese allele frequencies were verified by using nationwide population samples. 											
146434	P		NORMALVARIATION	NV		22	22q13.2	CYP2D7AP				Bhathena, A.  et al. 2007	17494644				cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2		African American;Hispanic CaucIndian		CDC GDP info	1566				Drug Metab Dispos    2007	Frequency of the frame-shifting CYP2D7 138delT polymorphism in a large, ethnically diverse sample population				CDC	2007												
148534			NORMALVARIATION	NV		6	6p21.3	HLA-A	29963507	30085130		Hajjej, A.  et al. 2006	16473309				Major histocompatibility complex, class I, A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002116.5	Greek;Tunisian	Tunisia|Mediterranean Region	CDC GDP info	3105	Hs.181244			Eur J Med Genet    2006    49(1)    43-56	HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans		142800		CDC	2006												
148572			NORMALVARIATION	NV		6	6p21.3	HLA-B	31344507	31432914		Hajjej, A.  et al. 2006	16473309				Major histocompatibility complex, class II, DR beta 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005514.5	Greek;Tunisian	Tunisia|Mediterranean Region	CDC GDP info	3106	Hs.77961			Eur J Med Genet    2006    49(1)    43-56	HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans		142830		CDC	2006												
149801			NORMALVARIATION	NV		2	2q14	IL1A	113247962	113259442		Zhang, W.  et al. 2007	17369174				Interleukin 1, alpha	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000575.3			CDC GDP info	3552	Hs.1722			Yi Chuan    2007    29(2)    185-9	The genetic polymorphism of cytokine genes in Zhejiang Han individuals		147760		CDC	2007												
150568	P		NORMALVARIATION	NV		19		KIR3DP1	59927795	60001550			16403292				Killer-cell Ig-like receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ630586	Caucasian		CDC GDP info	768329	Hs.690615			Zhongguo Shi Yan Xue Ye Xue Za Zhi    2005    13(6)    1109-12	Polymorphism of Killer Cell Immunoglobulin-like Receptors Gene Family in Zhejiang Han Population.		610604		CDC	2005	there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Zhejiang Han population.											
152684	P		CARDIOVASCULAR	CARD	Atherosclerosis	7	7q21.3	PON1	94764923	94791780		Sepahvand, F.  et al. 2007	17558807				Paraoxonase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000446.3	Caucasian;European;Iranian;Asian		CDC GDP info	5444	Hs.370995			J Toxicol Environ Health A    2007    70(13)    1125-9	Frequency of paraoxonase 192/55 polymorphism in an Iranian population		168820		CDC	2007	the frequencies of PON1-192 and -55 polymorphisms in this Iranian population were different from those seen in other Asian populations from Japan and China but similar to those for European Caucasians.											
142429	Y	gastric adenocarcinoma	CANCER	CAN	Adenocarcinoma|Colorectal Neoplasms|Stomach Neoplasms|Pancreatic Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Lee JE et al. 1996	8690208	DQB1*0301				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Gastroenterology. 1996 Aug;111(2):426-32	Association of gastric adenocarcinoma with the HLA class II gene DQB10301.		604305	7794	1	1996	 HLA-DQB1*0301 is more common in caucasian patients with gastric adenocarcinoma than noncancer controls. The mechanism linking HLA-DQB1*0301 with gastric adenocarcinoma is not likely through increased susceptibility to H. pylori infection.											
142478		Graves disease	IMMUNE	IMM	Autoimmune Diseases|Diabetes Mellitus, Type 1|Graves Disease|Thyroiditis, Autoimmune|Disease Susceptibility	6	6p21.3	HLA-DQB1	32735641	32742374		Santamaria P et al. 1994	8157715	DQB1*0201,*0301 , *0302, *0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			The Journal of clinical endocrinology and metabolism. 1994 Apr;78(4):878-83	HLA-DQB1-associated susceptibility that distinguishes Hashimoto's thyroiditis from Graves' disease in type I diabetic patients.		604305	7843	1	1994	We conclude that  in IDDM/ATD families, IDDM-affected subjects are at risk for ATD, especially those carrying DQB1*0201. This risk may be influenced by the alleles carried on the second haplotype, with DQB1*0302 (or a closely linked gene) protecting from Hashimoto's thyroiditis and favoring Graves' disease.											
148774		head and neck cancer	CANCER	CAN	Carcinoma, Squamous Cell|Head and Neck Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Reinders, J.  et al. 2006	16857416				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Oral Oncol    2006	HLA and MICA associations with head and neck squamous cell carcinoma		604305		CDC	2006												
142406		increased cutaneous melanoma risk	CANCER	CAN	Melanoma|Skin Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Lee JE et al. 1994	7960221	DQB1*0301				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			International journal of cancer. Journal international du cancer. 1994 Nov;59(4):510-3	HLA-DQB1*0301 association with increased cutaneous melanoma risk.		604305	7771	1	1994												
142453	Y	primary IgA nephropathy	OTHER	OTH	Glomerulonephritis, IGA	6	6p21.3	HLA-DQB1	32735641	32742374		Moore RH et al. 1990	1968992					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Kidney international. 1990 Mar;37(3):991-5	HLA DQ region gene polymorphism associated with primary IgA nephropathy.		604305	7818	1	1990												
142471		IgA deficiency and common variable immunodeficiency	IMMUNE	IMM	IgA Deficiency|Immunologic Deficiency Syndromes|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Olerup O et al. 1992	1438261					http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119				Proceedings of the National Academy of Sciences of the United States of America. 1992 Nov;89(22):10653-7	Shared HLA class II-associated genetic susceptibility and resistance related to the HLA-DQB1 gene in IgA deficiency and common variable immunodeficiency.		604305	7836	1	1992												
142491	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Nimgaonkar VL et al. 1997	9050131	DQB1*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Schizophrenia research. 1997 Jan;23(1):81-6	Negative association of schizophrenia with HLA DQB1*0602: evidence from a second African-American cohort.		604305	7856	1	1997												
142589	Y	dermatomyositis/ polymyositis	IMMUNE	IMM	Dermatomyositis	6	6p21.3	HLA-DQB1	32735641	32742374		Han X et al. 2002	12170471	DQB1*0401				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Zhonghua yi xue yi chuan xue za zhi. 2002 Aug;19(4):322-3	Association of HLA-DQB1 alleles and dermatomyositis/ polymyositis		604305	7954	1	2002	 The results suggest that HLA-DQB1*0401 gene contribute to genetic susceptibility to DM/PM.											
142611		atopy	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Cardaba B et al. 1993	7908014	DQ2				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934	immunoglobulin-E response to the main antigen of olive pollen (Ole e I)		Human immunology. 1993 Dec;38(4):293-9	DR7 and DQ2 are positively associated with immunoglobulin-E response to the main antigen of olive pollen (Ole e I) in allergic patients.		604305	7976	1	1993												
142380	N	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374	n	Jonsson EG et al. 1998	9516671	DQB1*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Schizophrenia research. 1998 Feb;29(3):293-6	Lack of association between schizophrenia and HLA DQB1 alleles in a Swedish sample.		604305	7745	1	1998												
148753	Y	pregnancy loss, recurrent	REPRODUCTION	REP		6	6p21.3	HLA-DQB1	32735641	32742374		Zheng, M. L.  et al. 2006	16640876	HLA-DQB1  57 site with non Asp			Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Fu Chan Ke Za Zhi    2006    41(3)    152-4	Association of soluble human leukocyte antigen DQB1 with recurrent spontaneous abortion.		604305		CDC	2006	The 57 site with non Asp may be a gene related to recurrent spontaneous abortions.											
148772		dermatitis and eczema, trichoroethylene-induced	IMMUNE	IMM		6	6p21.3	HLA-DQB1	32735641	32742374		Li, H. S.  et al. 2006	16836882				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yu Fang Yi Xue Za Zhi    2006    40(3)    173-6	Possible association between polymorphisms of human leukocyte antigen-DQ genes and susceptibility to trichloroethylene-induced severe generalized dermatitis.		604305		CDC	2006	The genetic polymorphisms of HLA-DQA1 might be one of the factors influencing the individual susceptibility to TCE-induced severe generalized dermatitis.											
148776			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Garcia-Ortiz, J. E.  et al. 2006	16866883				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Indian;Mexican		CDC GDP info	3119	Hs.409934			Tissue Antigens    2006    68(2)    135-46	High-resolution molecular characterization of the HLA class I and class II in the Tarahumara Amerindian population		604305		CDC	2006												
148783	P		NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Hong, X.  et al. 2006	16883543				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Zhonghua Yi Xue Yi Chuan Xue Za Zhi    2006    23(4)    463-5	The genetic polymorphism of HLA-DQA1 and HLA-DQB1 genes of Chinese Han population in Jiangsu area is studied by PCR-squence-based typing.		604305		CDC	2006	The distribution of HLA-DQ alleles and haplotypes in Jiangsu Han population shares some genetic characteristics with other population in northern of China, but has its own characteristics. The data will provide useful information for anthropology, organ transplantation and disease association studies.											
148856			NORMALVARIATION	NV		6	6p21.3	HLA-DQB1	32735641	32742374		Lee, K. W.  et al. 2007	17445173				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	Korean		CDC GDP info	3119	Hs.409934			Tissue Antigens    2007    69 Suppl 1    82-4	Diversity of HLA-DQA1 gene in the Korean population		604305		CDC	2007												
148859	N	breast cancer	CANCER	CAN	Breast Neoplasms	6	6p21.3	HLA-DQB1	32735641	32742374		Chen, P. C.  et al. 2007	17484621				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			Clin Chem Lab Med    2007    45(5)    611-614	HLA-DQA1 and -DQB1 allele typing in southern Taiwanese women with breast cancer		604305		CDC	2007	We have established a significant lack of HLA-DQA1 and -DQB1 association with breast cancer in southern Taiwanese women. The results of this study may provide information for further clarification of the etiology of breast cancer in this region.											
142221	Y	diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6q25	SUMO4	149763187	149763875	1.9e-07	Guo D 2004	15247916	a 163AG SNP in the CUE domain of SUMO4 that resulted in a M55V amino acid substitution.The substitution changes a PKC phosphorylation site at positions 54?56. The 163AG SNP was associated with T1D in the US case-control cohort; the G allele (encoding Val5	greater NFB transcriptional activity.	coding sequence	SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145342	ethnically and geographically matched patients and controls		KGB	387082	Hs.269775			Nature genetics. 2004 Aug;36(8):837-41	A functional variant of SUMO4, a new IB modifier, is associated with type 1 diabetes		608829	6871	1	2004		Case:703; Control:916										
155541	N	Alzheimer's disease - Galantamine response	PHARMACOGENOMIC	PHARM				APOE				Aerssens J et al (2001)	11173877				Apolipoprotein E		Caucasian		Aerssens J					Dement Geriatr Cogn Disord 	APOE genotype: no influence on galantamine treatment efficacy nor on rate of decline in Alzheimer's disease					2001												
121645		bipolar affective disorder; unipolar affective disorder	PSYCH	PSY	Bipolar Disorder	3	3q13.3	DRD3	115330246	115380589		Massat, I.  et al. 2002	11857579				Dopamine receptor D3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000796.3			CDC GDPinfo	1814	Hs.121478			American journal of medical genetics. 2002 Mar;114(2):177-85	Positive association of dopamine D2 receptor polymorphism with bipolar affective disorder in a European Multicenter Association Study of affective disorders.		126451	21167	2	2002	Our large European sample allowed for replicating of some previous reported positive findings obtained in other study populations	Case:133 unipolar affective disorder patients tested for:DRD2;Control:133 control subjects not otherwise specified tested for:DRD2;Case:136 unipolar affective disorder patients tested for:DRD3;Case:325 bipolar affective disorder tested for DRD3;Case:358 bipolar affective disorder patients tested for DRD2;Control:358 controls not otherwise specified in abstract tested for DRD2										
119033		gastritis, chronic atrophic; stomach cancer	CANCER	CAN	Intestinal Neoplasms|Colorectal Neoplasms|Stomach Neoplasms|Nasopharyngeal Neoplasms|Precancerous Conditions|Genetic Predisposition to Disease	6	6p21.2	CDKN1A	36754464	36763087		Xi, Y. G.  et al. 2004	15240512				Cyclin-dependent kinase inhibitor 1A (p21, Cip1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000389.2			CDC GDPinfo	1026	Hs.370771			Carcinogenesis. 2004 Nov;25(11):2201-6	p53 polymorphism and p21WAF1/CIP1 haplotype in the intestinal gastric cancer and the precancerous lesions.		116899	9347	2	2004	These results suggest that p53 and/or p21(WAF1/CIP1) genotype may influence the progression during gastric tumorigenesis.	Case:48/96/96 intestinal gastric carcinoma cases (n=48) and chronic atrophic gastritis (n=96) and intestinal:metaplasia (n=96);Control:96 dysplasia controls										
133840		lupus erythematosus	IMMUNE	IMM	Lupus Erythematosus, Systemic|Genetic Predisposition to Disease	21	21q22.3	RUNX1	35081967	36278917		Orozco, G.  et al. 2005	16249223				Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001754.3			CDC GDPinfo	861	Hs.149261			Annals of the rheumatic diseases. 2005	Study of the role of functional variants of SLC22A4, RUNX1and SUMO4 in systemic lupus erythematosus.		151385	19477	2	2005	 These results suggest that the SLC22A4, RUNX1, and SUMO4 polymorphisms analysed do not play a role in the susceptibility to or severity of SLE.											
118216		breast cancer	CANCER	CAN	Breast Neoplasms|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Frank, B.  et al. 2005	16251207				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDPinfo	841	Hs.591630			Carcinogenesis. 2005	Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.		601763	20639	2	2005												
148746	Y	H. pylori infection stomach cancer	CANCER	CAN	Helicobacter Infections|Adenocarcinoma|Stomach Neoplasms|Genetic Predisposition to Disease	6	6p21.3	HLA-DQB1	32735641	32742374		Watanabe, Y.  et al. 2006	16509868				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			CDC GDP info	3119	Hs.409934			J Gastroenterol Hepatol    2006    21(2)    420-4	HLA-DQB1 locus and gastric cancer in Helicobacter pylori infection		604305		CDC	2006	HLA-DQB1*0401 is a useful marker for determining susceptibility to intestinal type gastric cancer.											
145023		hypertension metabolic syndrome	CARDIOVASCULAR	CARD	Thrombosis|Hypertension|Metabolic Syndrome X|Genetic Predisposition to Disease	7	7q31.1	CAV1	115952074	115988466		Grilo, A.  et al. 2006	16601841				Caveolin 1, caveolae protein, 22kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001753.3			CDC GDP info	857	Hs.74034			Thromb Haemost    2006    95(4)    696-701	Genetic analysis of CAV1 gene in hypertension and metabolic syndrome		601047		CDC	2006												
151377		colorectal cancer	CANCER	CAN	Colorectal Neoplasms|Colorectal Neoplasms, Hereditary Nonpolyposis|Neoplasms, Multiple Primary|Microsatellite Instability	2	2p16	MSH6	47863789	47887596		Niessen, R. C.  et al. 2006	16636019				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1			CDC GDP info	2956	Hs.445052			Gut    2006    55(12)    1781-8	Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer		600678		CDC	2006	Family history, MSI analysis and IHC are indicative parameters to select patients with CRC for MMR gene mutation analysis.											
144908		diabetes, type 1 lupus erythematosus rheumatoid arthritis	IMMUNE	IMM	Arthritis, Rheumatoid|Lupus Erythematosus, Systemic|Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	BTNL2	32470490	32482878		Orozco, G.  et al. 2005	16690410				Butyrophilin-like 2 (MHC class II associated)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_019602.1	Caucasian		CDC GDP info	56244	Hs.534471			Hum Immunol    2005    66(12)    1235-41	Analysis of a Functional BTNL2 Polymorphism in Type 1 Diabetes, Rheumatoid Arthritis, and Systemic Lupus Erythematosus		606000		CDC	2005												
147084		hemorrhagic telangiectasia, hereditary	OTHER	OTH	Telangiectasia, Hereditary Hemorrhagic	9	9q33-q34.1	ENG	129617115	129656805		Lesca, G.  et al. 2006	16705692				Endoglin (Osler-Rendu-Weber syndrome 1)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000118.1	French	France	CDC GDP info	2022	Hs.76753			Hum Mutat    2006    27(6)    598	Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients		131195		CDC	2006												
152209	Y	psychoses schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	8	8p21-p12	NRG1	31616809	32741615		Walss-Bass, C.  et al. 2006	16730337				Neuregulin 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004495.1			CDC GDP info	3084	Hs.453951			Biol Psychiatry    2006	A Novel Missense Mutation in the Transmembrane Domain of Neuregulin 1 is Associated with Schizophrenia		142445		CDC	2006	We report the finding of a missense mutation in the neuregulin 1 gene associated with schizophrenia.											
145120		lung cancer	CANCER	CAN	Lung Neoplasms|Genetic Predisposition to Disease	11	11q13	CCND1	69165053	69178423		Hung, R. J.  et al. 2006	16912209				Cyclin D1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_053056.2			CDC GDP info	595	Hs.523852			Cancer Res    2006    66(16)    8280-6	Sequence Variants in Cell Cycle Control Pathway, X-ray Exposure, and Lung Cancer Risk		168461		CDC	2006	can only be drawn on replication by different studies among individuals who are highly exposed to IR.		radiation									
147595	Y	height	DEVELOPMENTAL	DEV	Genetic Predisposition to Disease|Growth Disorders	15	15q21.1	FBN1	46487796	46725210		Mamada, M.  et al. 2006	17024364				Fibrillin 1 (Marfan syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000138.3			CDC GDP info	2200	Hs.591133			Hum Genet    2006	Fibrillin I gene polymorphism is associated with tall stature of normal individuals		134797		CDC	2006												
151081	Y	autism	PSYCH	PSY	Genetic Predisposition to Disease|Autistic Disorder	7	7q31	MET	116099694	116225676		Campbell, D. B.  et al. 2006	17053076				Met proto-oncogene (hepatocyte growth factor receptor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000245.2			CDC GDP info	4233	Hs.132966			Proc Natl Acad Sci U S A    2006	A genetic variant that disrupts MET transcription is associated with autism		164860		CDC	2006												
151384		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis|Microsatellite Instability	2	2p16	MSH6	47863789	47887596		Lamberti, C.  et al. 2006	17095871				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Germany	CDC GDP info	2956	Hs.445052			Digestion    2006    74(1)    58-67	Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany		600678		CDC	2006	After adjusting for the cases not evaluable for germline mutations, 1.											
153278		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	1	1q21	SDHC	159550789	159601159		Korpershoek, E.  et al. 2006	17102080				Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003001.3			CDC GDP info	6391	Hs.444472			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		602413		CDC	2006												
145810	Y	vascular disease	CARDIOVASCULAR	CARD	Carotid Stenosis|Genetic Predisposition to Disease|Inflammation	17	17q11.2-q12	CSF3	35425213	35427592		Carlson, C. S.  et al. 2006	17115186				Colony stimulating factor 3 (granulocyte)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000759.2			CDC GDP info	1440	Hs.2233			Hum Genet    2006	TagSNP evaluation for the association of 42 inflammation loci and vascular disease		138970		CDC	2006												
148511		porphyria	HEMATOLOGICAL	HEM	Porphyria Cutanea Tarda|Hemochromatosis|Iron Overload	6	6p21.3	HFE	26195487	26205036		Wolff, C. F.  et al. 2006	17137171				Hemochromatosis	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000410			CDC GDP info	3077	Hs.233325			Medicina (B Aires)    2006    66(5)    421-6	Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients		235200		CDC	2006												
151789	Y	diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	10	10q21.3	NEUROG3	71001796	71003128		Milord, E.  et al. 2006	17146417				Neurogenin 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_020999.2	Italian		CDC GDP info	50674	Hs.532682			Minerva Med    2006    97(5)    373-8	NEUROG3 variants and type 2 diabetes in Italians		604882		CDC	2006	The biological impact of NEUROG3 might be due to the presence of either CCCAGT at 44-45nt, 167Arg, 199Ser or by a haplotype combination of these 3 or 2 of them.											
144214		lymphoma lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	1	1p33-p32	AKR1A1	45789084	45808308		Lan, Q.  et al. 2006	17149600				Aldo-keto reductase family 1, member A1 (aldehyde reductase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006066			CDC GDP info	10327	Hs.654435			Hum Genet    2006	Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma		103830		CDC	2006												
146621	Y	schizophrenia	PSYCH	PSY	Genetic Predisposition to Disease|Schizophrenia	13	13q33.2	DAOA	104916216	104941384		Yue, W.  et al. 2006	17179866				D-amino acid oxidase activator	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_172370.2			CDC GDP info	267012	Hs.381382			Neuroreport    2006    17(18)    1899-902	Association of G72/G30 polymorphisms with early-onset and male schizophrenia		607408		CDC	2006												
152404		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|DNA Damage|Genetic Predisposition to Disease	3	3p21.31-p21.1	PARP3	51951400	51957923		Figueroa, J. D.  et al. 2007	17203305				Poly (ADP-ribose) polymerase family, member 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001003935			CDC GDP info	10039	Hs.271742			Hum Genet    2007	Genetic variation in the base excision repair pathway and bladder cancer risk		607726		CDC	2007												
154233	N	anemia, iron deficiency	HEMATOLOGICAL	HEM	Anemia, Iron-Deficiency|Genetic Predisposition to Disease	3	3q22.1	TF	134901900	134980325		Sarria, B.  et al. 2007	17206377				Transferrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001063.2			CDC GDP info	7018	Hs.518267			Eur J Nutr    2007	The G277S transferrin mutation does not affect iron absorption in iron deficient women		190000		CDC	2007	There were no significant differences in iron status indices or non-haem iron absorption between genotypes. However, G277S carriers did not show the usual inverse association between iron stores and non-haem iron absorption. Further studies should focus on the effects of a combination of polymorphisms in iron metabolism genes on iron absorption.											
144351	N	lung cancer	PHARMACOGENOMIC	PHARM	Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766		Su, D.  et al. 2007	17222938				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			Lung Cancer    2007	Genetic polymorphisms and treatment response in advanced non-small cell lung cancer		107748		CDC	2007	We found that SNPs in ERCC1 and iASPP were associated with response to chemotherapy or combined chemotherapy and radiotherapy in NSCLC patients.		chemotherapy radiation									
152453	Y	lupus erythematosus	IMMUNE	IMM	Lupus Nephritis|Lupus Erythematosus, Systemic|Lupus Nephritis|Genetic Predisposition to Disease	2	2q37.3	PDCD1	242440710	242449731		Velazquez-Cruz, R.  et al. 2007	17228327				Programmed cell death 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005018.1	Spanish;Swedish;European;Mexican		CDC GDP info	5133	Hs.158297			Eur J Hum Genet    2007	Association of PDCD1 polymorphisms with childhood-onset systemic lupus erythematosus		600244		CDC	2007												
150258		atherosclerosis, coronary	CARDIOVASCULAR	CARD	Coronary Artery Disease|Coronary Restenosis|Genetic Predisposition to Disease	19	19p13.3-p13.2	INSR	7063265	7245011		Oguri, M.  et al. 2007	17275003				Insulin receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000208.1			CDC GDP info	3643	Hs.591381			Atherosclerosis    2007	Genetic risk for restenosis after coronary stenting		147670		CDC	2007	Determination of the genotypes for BCHE, GPX1, and ROS1 may prove informative for assessment of the genetic risk for in-stent restenosis.											
154069	N	preeclampsia	REPRODUCTION	REP	Pre-Eclampsia|Genetic Predisposition to Disease	10	10q21.3	STOX1	70257386	70325215		Kivinen, K.  et al. 2007	17290274				Storkhead box 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AY842014	Finnish		CDC GDP info	219736	Hs.37636			Eur J Hum Genet    2007	Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample		609397		CDC	2007	we are unable to validate STOX1 as a common preeclampsia susceptibility gene.											
148833		birth weight body mass	METABOLIC	MET	Diabetes, Gestational|Diabetes Mellitus, Type 1|Birth Weight	6	6p21.3	HLA-DQB1	32735641	32742374		Hummel, M.  et al. 2007	17310371				Major histocompatibility complex, class II, DQ beta 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2	German		CDC GDP info	3119	Hs.409934			Diabetologia    2007	Fetal growth is increased by maternal type 1 diabetes and HLA DR4-related gene interactions		604305		CDC	2007	 Our findings are consistent with the hypothesis that a diabetic intrauterine environment interacts with gene(s) marked by the type 1 diabetes susceptibility HLA DR4 alleles to increase fetal growth.											
147005		cervical cancer uterine cancer	CANCER	CAN	Carcinoma, Squamous Cell|Uterine Cervical Neoplasms|Lymphatic Metastasis|Genetic Predisposition to Disease	4	4q25	EGF	111053498	111152868		Kang, S.  et al. 2007	17316357				Epidermal growth factor (beta-urogastrone)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001963.2	Caucasian;Korean;Asian		CDC GDP info	1950	Hs.419815			Int J Gynecol Cancer    2007	Epidermal growth factor 61 A/G polymorphism and uterine cervical cancer		131530		CDC	2007												
151388		colorectal cancer	CANCER	CAN	Colorectal Neoplasms, Hereditary Nonpolyposis	2	2p16	MSH6	47863789	47887596		Irmejs, A.  et al. 2007	17348456				MutS homolog 6 (E. coli)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000179.1		Latvia	CDC GDP info	2956	Hs.445052			Anticancer Res    2007    27(1B)    653-8	Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia		600678		CDC	2007	The role of the classical Amsterdam criteria in diagnosing HNPCC in CRC patients from Latvia is very limited and diagnostic criteria for suspected HNPCC are the most effective.											
154895		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease	10	10q11.2-q21	UBE2D1	59764744	59800515		Morgan, A. R.  et al. 2007	17373700				Ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003338			CDC GDP info	7321	Hs.129683			Am J Med Genet B Neuropsychiatr Genet    2007	Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease				CDC	2007												
152278		skin lesions, arsenic-induced	PHARMACOGENOMIC	PHARM	Skin Neoplasms|Genetic Predisposition to Disease	3	3p26.2	OGG1	9765704	9783342		Breton, C. V.  et al. 2007	17374727				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4			CDC GDP info	4968	Hs.380271			Carcinogenesis    2007	Susceptibility to arsenic-induced skin lesions from polymorphisms in base excision repair genes		601982		CDC	2007												
148168		graft-versus-host disease	IMMUNE	IMM	Leukemia, Myeloid|Leukemia, Myelogenous, Chronic, BCR-ABL Positive|Hepatic Veno-Occlusive Disease|Graft vs Host Disease|Acute Disease	6	6p12.1	GSTA1	52764346	52776616		Kim, I.  et al. 2007	17425746				Glutathione S-transferase A1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_145740.2			CDC GDP info	2938	Hs.446309			Clin Transplant    2007    21(2)    207-13	Glutathione S-transferase A1 polymorphisms and acute graft-vs.-host disease in HLA-matched sibling allogeneic hematopoietic stem cell transplantation		138359		CDC	2007												
142412	Y	schizophrenia	PSYCH	PSY	Schizophrenia	6	6p21.3	HLA-DQB1	32735641	32742374		Nimgaonkar VL et al. 1995	8929760	DQB1*0303 , DQB1*0602				http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002123.2			KGB	3119	Hs.409934			Schizophrenia research. 1995 Dec;18(1):43-9	Further evidence for an association between schizophrenia and the HLA DQB1 gene locus.		604305	7777	1	1995												
142828		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness|Cerebral Infarction	M		MT-RNR1				Tekin, M.  et al. 2003	12655418						Turkish	Turkey	CDC GDPinfo					European journal of pediatrics. 2003 Mar;162(3):154-8	Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.		561000	18408	2	2003	 This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population.	Case:168 patients coming from independent Turkish families with prelingual sensorineural non-syndromic:deafness										
142833	N	ototoxicity	OTHER	OTH	Hearing Loss, Sensorineural|Genetic Predisposition to Disease	M		MT-RNR1				Gurtler, N.  et al. 2005	15805873								CDC GDPinfo					The Laryngoscope. 2005 Apr;115(4):640-4	Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides		561000	18413	2	2005	 High-frequency pure-tone audiometry is critical for detection of aminoglycoside-induced HL. In the Swiss population, screening for mutations in the 12S rRNA gene, before the initiation of aminoglycoside therapy, is not supported by this limited study. A larger multicenter and multicultural study is warranted to more definitively address this critical clinical issue.	Case patients undergoing treatment with aminoglycosides:Switzerland;Control:50:controls:controls										
142846	N	MELAS	METABOLIC	MET	MELAS Syndrome	M		MT-TL1				Torroni, A.  et al. 2003	12612863							Spain	CDC GDPinfo					American journal of human genetics. 2003 Apr;72(4):1005-12	Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.		590050	18436	2	2003	Overall, these data indicate that the A3243G mutation harbors all the evolutionary features expected from a severely deleterious mtDNA mutation under strong negative selection, and they reveal that European mtDNA backgrounds do not play a substantial role in modulating the mutation's phenotypic expression.											
142883		ototoxicity	OTHER	OTH	Osteosarcoma|Germinoma|Medulloblastoma|Neuroblastoma|Bone Neoplasms|Brain Neoplasms|Hearing Loss, Sensorineural|Optic Atrophy, Hereditary, Leber|Genetic Predisposition to Disease	M		MT-TS1				Peters, U.  et al. 2003	12820379								CDC GDPinfo					Anticancer research. 2003 Mar-Apr;23(2B):1249-55	Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin.		590080	23056	2	2003	 The linkage of cisplatin-induced hearing impairment to the mitochondrial haplogroup J, which is also associated with the mitochondrially-mediated Leber's Hereditary Optic Neuropathy, might act as a predisponsing genetic background for biochemical differences in mitochondria.	Control:19 patients without hearing impairment under therapeutic doses of cisplatin;Case:20 patients with hearing impairment under therapeutic doses of cisplatin	cisplatin									
144025		platelet function	HEMATOLOGICAL	HEM		10	10q24-q26	ADRA2A	112826910	112830560		Yabe, M.  et al. 2006	16854373				Adrenergic, alpha-2A-, receptor	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000681.2			CDC GDP info	150	Hs.249159			Biochem Biophys Res Commun    2006	Identification of ADRA2A polymorphisms related to shear-mediated platelet function		104210		CDC	2006												
144269	N	diabetes, type 2	METABOLIC	MET	Deafness|Diabetes Mellitus, Type 2|Insulin Resistance|Dyslipidemias|Obesity|Syndrome|Genetic Predisposition to Disease	2	2p13	ALMS1	73466393	73690554		Patel, S.  et al. 2006	16601972				Alstrom syndrome 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AJ417593			CDC GDP info	7840	Hs.184720			Diabetologia    2006	Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population		606844		CDC	2006												
144335	Y	prostate cancer	CANCER	CAN	Prostatic Neoplasms	14	14q11.2-q12	APEX1	19993129	19995766			16406883				APEX nuclease (multifunctional DNA repair enzyme) 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001641.2			CDC GDP info	328	Hs.73722			J Urol    2006    175(1)    108-12	Association Between Polymorphisms in the DNA Repair Genes XRCC1 and APE1, and the Risk of Prostate Cancer in White and Black Americans		107748		CDC	2006	Our results suggest that inherited variability in DNA repair capacity, as reflected by polymorphisms in XRCC1 and APE1, is a risk factor for prostate cancer.											
144760	N	personality traits schizophrenia	PSYCH	PSY	Personality Disorders|Schizophrenia	11	11p13	BDNF	27633017	27699872		Tochigi, M.  et al. 2006	16854566				Brain-derived neurotrophic factor opposite strand	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_170732.3	Japanese;Caucasian		CDC GDP info	627	Hs.502182			Schizophr Res    2006	No evidence for an association between the BDNF Val66Met polymorphism and schizophrenia or personality traits		113505		CDC	2006												
144827		juvenile polyposis syndrome	OTHER	OTH	Neoplastic Syndromes, Hereditary|Peutz-Jeghers Syndrome|Precancerous Conditions|Intestinal Polyps	10	10q22.3	BMPR1A	88506375	88674925		Pyatt, R. E.  et al. 2006	16436638				Bone morphogenetic protein receptor, type IA	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004329.2			CDC GDP info	657	Hs.524477			J Mol Diagn    2006    8(1)    84-8	Mutation screening in juvenile polyposis syndrome		601299		CDC	2006												
144887		ovarian cancer	CANCER	CAN	Neoplasms, Glandular and Epithelial|Ovarian Neoplasms|Genetic Predisposition to Disease	13	13q12.3	BRCA2	31787616	31871809		Yazici, H.  et al. 2006	16783967				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2			CDC GDP info	675	Hs.34012			Oncol Res    2006    16(1)    43-7	Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?		600185		CDC	2006			family history									
144894		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasms, Multiple Primary	13	13q12.3	BRCA2	31787616	31871809			17380889				Breast cancer 2, early onset	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000059.2	Russian		CDC GDP info	675	Hs.34012			Mol Biol (Mosk)    2007    41(1)    37-42	Analysis of BRCA1/2 and CHEK2 mutations in ovarian cancer and primary multiple tumors involving the ovaries. Patients of Russian population using biochips		600185		CDC	2007												
144974		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33-q34	CASP10	201755865	201802355		Lan, Q.  et al. 2006	17071630				Caspase 10, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001230.4			CDC GDP info	843	Hs.5353			Carcinogenesis    2006	Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphoma		601762		CDC	2006												
144983		hepatitis C, chronic	PHARMACOGENOMIC	PHARM	Hepatitis C, Chronic|Genetic Predisposition to Disease	11	11q22.2-q22.3	CASP5	104370179	104384909		Hwang, Y.  et al. 2006	16886895				Caspase 5, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004347			CDC GDP info	838	Hs.213327			Pharmacogenomics    2006    7(5)    697-709	Genetic predisposition of responsiveness to therapy for chronic hepatitis C		602665		CDC	2006	A genetic model was constructed to predict outcomes of the combination therapy in CHC patients with high sensitivity and specificity.		interferon ribavirin									
144987		lymphoma, non-Hodgkin	CANCER	CAN	Lymphoma, Non-Hodgkin|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Lan, Q.  et al. 2006	17071630				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDP info	841	Hs.591630			Carcinogenesis    2006	Genetic variants in caspase genes and susceptibility to non-Hodgkin lymphoma		601763		CDC	2006												
144990		clubfoot	DEVELOPMENTAL	DEV	Clubfoot|Genetic Predisposition to Disease	2	2q33-q34	CASP8	201806410	201860679		Ester, A. R.  et al. 2007	17534194				Caspase 8, apoptosis-related cysteine peptidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001228.3			CDC GDP info	841	Hs.591630			Clin Orthop Relat Res    2007	Apoptotic Gene Analysis in Idiopathic Talipes Equinovarus (Clubfoot)		601763		CDC	2007												
145011		vitiligo	IMMUNE	IMM	Vitiligo|Genetic Predisposition to Disease	11	11p13	CAT	34417053	34450183		Gavalas, N. G.  et al. 2006	16729966				Catalase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001752.2			CDC GDP info	847	Hs.502302			Biochem Biophys Res Commun    2006	Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo		115500		CDC	2006												
145102		HIV	INFECTION	INF	HIV Infections|Acquired Immunodeficiency Syndrome|Hemophilia A|Disease Progression	17	17q11.2-q12	CCL5	31222608	31231490		Koizumi, Y.  et al. 2007	17530998				Chemokine (C-C motif) ligand 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002985.2			CDC GDP info	6352	Hs.514821			AIDS Res Hum Retroviruses    2007    23(5)    713-719	RANTES -28G Delays and DC-SIGN - 139C Enhances AIDS Progression in HIV Type 1-Infected Japanese Hemophiliacs		187011		CDC	2007												
145241	Y	burn injury	OTHER	OTH	Burns	5	5q22-q32	CD14	139991500	139993439		Barber, R. C.  et al. 2007	17304102	CD14-159 C			CD14 antigen	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000591.2			CDC GDP info	929	Hs.163867			Shock    2007    27(3)    232-237	CD14-159 C ALLELE IS ASSOCIATED WITH INCREASED RISK OF MORTALITY AFTER BURN INJURY		158120		CDC	2007												
145561		cognitive function	PSYCH	PSY		8	8p11.2	CHRNB3	42671718	42711366		Rigbi, A.  et al. 2007	17559419				Cholinergic receptor, nicotinic, beta polypeptide 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000749.3			CDC GDP info	1142	Hs.96094			Genes Brain Behav    2007	Why do young women smoke? V. Role of direct and interactive effects of nicotinic cholinergic receptor gene variation on neurocognitive function		118508		CDC	2007			smoking (tobacco)									
145588	Y	schizophrenia	PSYCH	PSY	Schizophrenia	4	4q12	CLOCK	55993416	56107754		Takao, T.  et al. 2006	17116390	CLOCK  T3111C			Clock homolog (mouse)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004898.2			CDC GDP info	9575	Hs.436975			Eur Neuropsychopharmacol    2006	CLOCK gene T3111C polymorphism is associated with Japanese schizophrenics		601851		CDC	2006												
145801		spermatogenesis	REPRODUCTION	REP	Infertility, Male	12	12q13.2-q13.3	CS	54951749	54980442		Bonache, S.  et al. 2007	17298551				Citrate synthase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_198324			CDC GDP info	1431	Hs.430606			Int J Androl    2007	Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes		118950		CDC	2007												
145821		bladder cancer	CANCER	CAN	Urinary Bladder Neoplasms|Genetic Predisposition to Disease	1	1p31.1	CTH	70649542	70677841		Moore, L. E.  et al. 2007	17311259				Cystathionase (cystathionine gamma-lyase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001902.4			CDC GDP info	1491	Hs.19904			Int J Cancer    2007	Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer		607657		CDC	2007			diet									
145889		Graves' disease	IMMUNE	IMM	Graves Disease|Recurrence	2	2q33	CTLA4	204440753	204446928		Tanrikulu, S.  et al. 2006	17526951				Cytotoxic T-lymphocyte-associated protein 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005214.3	Turkish		CDC GDP info	1493	Hs.247824			Endocrine    2006    30(3)    377-382	The Predictive Value of CTLA-4 and Tg Polymorphisms in the Recurrence of Graves' Disease after Antithyroid Withdrawal		123890		CDC	2006	early interpretation for definitive treatment procedures (i.											
146783		tardive dyskinesia	NEUROLOGICAL	NEUR	Dyskinesia, Drug-Induced|Genetic Predisposition to Disease|Schizophrenia	11	11q23	DRD2	112785526	112851091		Zai, C. C.  et al. 2006	16959057				Dopamine receptor D2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000795.2	Caucasian;European		CDC GDP info	1813	Hs.73893			Int J Neuropsychopharmacol    2006        1-13	Association study of tardive dyskinesia and twelve DRD2 polymorphisms in schizophrenia patients		126450		CDC	2006												
147373		in vitro fertilization	REPRODUCTION	REP	Infertility, Female	14	14q	ESR2	63763503	63875021		Altmae, S.  et al. 2007	17540666				Estrogen receptor 2 (ER beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001437.2			CDC GDP info	2100	Hs.443150			Mol Hum Reprod    2007	Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization		601663		CDC	2007												
147458		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	1	1p22-p21	F3	94767460	94779903		Yamada, Y.  et al. 2006	16820938				Coagulation factor III (thromboplastin, tissue factor)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001993.2			CDC GDP info	2152	Hs.62192			Int J Mol Med    2006    18(2)    299-308	Assessment of genetic factors for type 2 diabetes mellitus		134390		CDC	2006												
147796	Y	schizophrenia	PSYCH	PSY	Hallucinations|Genetic Predisposition to Disease|Schizophrenia	7	7q31	FOXP2	113513617	114117391			16538183				Forkhead box P2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_014491.1			CDC GDP info	93986	Hs.282787			Psychiatr Genet    2006    16(2)    67-72	Association between FOXP2 polymorphisms and schizophrenia with auditory hallucinations		605317		CDC	2006	These results suggested that the FOXP2 gene may confer vulnerability to schizophrenic patients with auditory hallucinations.											
147906	N	obesity	METABOLIC	MET	Insulin Resistance|Obesity, Morbid|Body Weight	10	10p11.23	GAD2	26545599	26633493		Hunt, S. C.  et al. 2006	16741266				Glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000818.1	French	Utah|France	CDC GDP info	2572	Hs.231829			Obesity (Silver Spring)    2006    14(4)    650-5	Lack of association of glutamate decarboxylase 2 gene polymorphisms with severe obesity in utah		138275		CDC	2006												
147958	Y	osteoarthritis	METABOLIC	MET	Osteoarthritis|Genetic Predisposition to Disease	20	20q11.2	GDF5	33484562	33505982		Southam, L.  et al. 2007	17616513	A SNP in the 5' UTR of GDF5		5' untranslated region	Growth differentiation factor 5	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC032495	Spanish;European		CDC GDP info	8200	Hs.1573			Hum Mol Genet    2007	A SNP in the 5' UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage		601146		CDC	2007												
148139	Y	prefontal cortex function	NEUROLOGICAL	NEUR	Genetic Predisposition to Disease|Schizophrenia	7	7q21.1-q21.2	GRM3	86111165	86332128		Marenco, S.  et al. 2006	16585454				Glutamate receptor, metabotropic 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000840.2			CDC GDP info	2913	Hs.590575			Am J Psychiatry    2006    163(4)    740-2	Effect of metabotropic glutamate receptor 3 genotype on N-acetylaspartate measures in the dorsolateral prefrontal cortex		601115		CDC	2006	These findings provide further evidence that GRM3 affects prefrontal function and that variation in GRM3, monitored by SNP rs6465084, affects GRM3 function.											
148150	N	bipolar disorder	PSYCH	PSY	Genetic Predisposition to Disease|Bipolar Disorder	3	3q13.3	GSK3B	121028235	121295203			16528748				Glycogen synthase kinase 3 beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002093.2			CDC GDP info	2932	Hs.445733			Am J Med Genet B Neuropsychiatr Genet    2006	Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder		605004		CDC	2006												
148211		melanoma	CANCER	CAN	Melanoma|Nevus|Skin Neoplasms|Genetic Predisposition to Disease	1	1p13.3	GSTM1	110031964	110037890		Mossner, R.  et al. 2006	17072629				Glutathione S-transferase M1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000561.2			CDC GDP info	2944	Hs.301961			Arch Dermatol Res    2006	Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma		138350		CDC	2006												
148273		thyroid cancer	CANCER	CAN	Thyroid Neoplasms|Genetic Predisposition to Disease	10	10q25.1	GSTO1	106004667	106017203		Bufalo, N. E.  et al. 2006	17158763				Glutathione S-transferase omega 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004832.1			CDC GDP info	9446	Hs.190028			Endocr Relat Cancer    2006    13(4)    1185-93	Smoking and susceptibility to thyroid cancer		605482		CDC	2006			smoking (tobacco)									
149266	Y	personality disorders	PSYCH	PSY	Borderline Personality Disorder	13	13q14-q21	HTR2A	46305513	46368995		Ni, X.  et al. 2006	17000047				5-hydroxytryptamine (serotonin) receptor 2A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000621.2	Caucasian		CDC GDP info	3356	Hs.72630			Neurosci Lett    2006	Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder		182135		CDC	2006												
149360	Y	lactate dehydrogenase severe acute respiratory syndrome	METABOLIC	MET	Severe Acute Respiratory Syndrome|Genetic Predisposition to Disease	19	19p13.3-p13.2	ICAM3	10305451	10311300		Chan, K. Y.  et al. 2007	17570115				Intercellular adhesion molecule 3	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=BC046121			CDC GDP info	3385	Hs.654563			J Infect Dis    2007    196(2)    271-80	Association of ICAM3 Genetic Variant with Severe Acute Respiratory Syndrome		146631		CDC	2007												
149372		Alzheimer's disease	NEUROLOGICAL	NEUR	Alzheimer Disease|Genetic Predisposition to Disease	10	10q23-q25	IDE	94204018	94323813		Vepsalainen, S.  et al. 2007	17496198				Insulin-degrading enzyme	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004969.1	Finnish		CDC GDP info	3416	Hs.500546			J Med Genet    2007	Insulin degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population		146680		CDC	2007												
149426		leishmaniasis, post-kala-azar	INFECTION	INF	Leishmaniasis, Cutaneous|Leishmaniasis, Visceral|Genetic Predisposition to Disease	12	12q14	IFNG	66834816	66839788		Salih, M. A.  et al. 2006	17136124				Interferon, gamma	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000619.2	Gambia		CDC GDP info	3458	Hs.856			Genes Immun    2006	IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan		147570		CDC	2006												
149519	N	body mass, height	METABOLIC	MET	Obesity|Body Weight	11	11p15.5	IGF2	2106922	2127409		Heude, B.  et al. 2007	17488802			other	Insulin-like growth factor 2 (somatomedin A)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000612.3	European		CDC GDP info	3481	Hs.373908			J Clin Endocrinol Metab    2007	Study of association between common variation in the IGF2 gene and indices of obesity and body size in middle-age men and women		147470		CDC	2007	We did not confirm the previously reported associations between IGF2 polymorphisms and BMI. However an association with height was shown.											
149522		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2|Genetic Predisposition to Disease	3	3q27.2	IGF2BP2	186844220	187025521		Scott, L. J. et al.  et al. 2007	17463248				Insulin-like growth factor 2 mRNA binding protein 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006548	Finnish		CDC GDP info	10644	Hs.35354			Science    2007	A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants		608289		CDC	2007												
149554		leukemia, chronic lymphocytic	CANCER	CAN	Infection|Leukemia, Lymphocytic, Chronic	16	14q32.33	IGHV	31880823	31881055		Francis, S.  et al. 2006	16862572				immunoglobulin heavy variable group				CDC GDP info	3509				Cancer    2006	The effect of immunoglobulin V(H) gene mutation status and other prognostic factors on the incidence of major infections in patients with chronic lymphocytic leukemia		147070		CDC	2006	Clinical stage at diagnosis, IgVH mutation status, and initial therapy were possible predictors of severe infections in patients with CLL.											
149621	N	skin cancer, non-melanoma	CANCER	CAN	Carcinoma, Basal Cell|Skin Neoplasms	1	1q31-q32	IL10	205007570	205012462	not significant	Vogel, U.  et al. 2007	17307204	IL10 C-592T 		5'promoter	Interleukin 10	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000572.2	317 basal cell carcinoma cases and 317 controls matched on age and gender	Denmark	CDC GDP info	3586	Hs.193717			Mutat Res    2007	Polymorphisms in COX-2, NSAID use and risk of basal cell carcinoma in a prospective study of Danes	rs1800872	124092		CDC	2007	No association of the polymorphism to risk of basal cell carcinoma	nested within the Diet, Cancer and Health study	nonsteroidal anti-inflammatory (NSAID)								no interaction with NSAID	
149838		morbidity mortality	IMMUNE	IMM	Inflammation	2	2q14	IL1B	113303807	113310827		Ortlepp, J. R.  et al. 2006	16858645				Interleukin 1, beta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000576.2			CDC GDP info	3553	Hs.126256			Inflammation    2006	Relationship of Five Inflammatory Gene Polymorphisms with Morbidity and Mortality in 533 Patients Admitted to an ICU		147720		CDC	2006	Genotyping of the investigated polymorphism for risk stratification of patients admitted to ICU does not seem to be appropriated.											
149918	N	Graves' disease	IMMUNE	IMM	Graves Disease|Genetic Predisposition to Disease	2	2q14.2	IL1RN	113573407	113608064		Nakkuntod, J.  et al. 2006	17348243				Interleukin 1 receptor antagonist	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_173841.1	Thai		CDC GDP info	3557	Hs.81134			Asian Pac J Allergy Immunol    2006    24(4)    207-11	Association of TNF-alpha, TNF-beta, IFN-gamma and IL-1Ra gene polymorphisms with Graves' disease in the Thai population		147679		CDC	2006												
150476		hearing loss, sensorineural nonsyndromic	OTHER	OTH	Deafness	1	1p34	KCNQ4	41022270	41076947		Su, C. C.  et al. 2006	17033161				Potassium voltage-gated channel, KQT-like subfamily, member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK074957		Taiwan	CDC GDP info	9132	Hs.473058			Audiol Neurootol    2006    12(1)    20-26	Identification of Novel Mutations in the KCNQ4 Gene of Patients with Nonsyndromic Deafness from Taiwan		603537		CDC	2006												
150630		lung cancer	PHARMACOGENOMIC	PHARM	Adenocarcinoma|Carcinoma, Large Cell|Carcinoma, Non-Small-Cell Lung|Carcinoma, Squamous Cell|Lung Neoplasms	12	12p12.1	KRAS	25249446	25295130		van Zandwijk, N.  et al. 2007	17060486				v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_033360.2			CDC GDP info	3845	Hs.505033			Ann Oncol    2007    18(1)    99-103	EGFR and KRAS mutations as criteria for treatment with tyrosine kinase inhibitors		190070		CDC	2007			erlotinib gefitinib									
150710	Y	head and neck cancer lung cancer	CANCER	CAN	Carcinoma, Small Cell|Carcinoma, Squamous Cell|Head and Neck Neoplasms|Lung Neoplasms|Genetic Predisposition to Disease	19	19q13.2-q13.3	LIG1	53310514	53365372		Michiels, S.  et al. 2007	17494052				Ligase I, DNA, ATP-dependent	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000234.1	Caucasian		CDC GDP info	3978	Hs.1770			Carcinogenesis    2007	Polymorphism discovery in 62 DNA repair genes and haplotype-associations with risks for lung, and head and neck cancers		126391		CDC	2007												
150756		left ventricular growth	CARDIOVASCULAR	CARD		8	8p22	LPL	19841057	19869049			16416313				Lipoprotein lipase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000237.1			CDC GDP info	4023	Hs.180878			J Mol Med    2006        1-6	Variation in the lipoprotein lipase gene influences exercise-induced left ventricular growth		609708		CDC	2006												
150977		dementia, frontotemporal	PSYCH	PSY		17	17q21.1	MAPT	41327623	41461546		Laws, S. M.  et al. 2007	17386961				Saitohin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016835.2			CDC GDP info	4137	Hs.101174			Neurobiol Aging    2007	Genetic analysis of MAPT haplotype diversity in frontotemporal dementia		157140		CDC	2007												
151221		aneurysm	CARDIOVASCULAR	CARD	Aortic Aneurysm, Abdominal|Disease Progression	16	16q13-q21	MMP2	54070588	54098104		Powell, J. T.  et al. 2006	17182940				Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004530.2			CDC GDP info	4313	Hs.513617			Ann N Y Acad Sci    2006    1085    236-41	Genes predisposing to rapid aneurysm growth		120360		CDC	2006												
151334		breast cancer	CANCER	CAN	Breast Neoplasms	17	17q23.1	MPO	53702215	53713295		Yang, J.  et al. 2007	17259657				Myeloperoxidase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000250.1			CDC GDP info	4353	Hs.458272			Carcinogenesis    2007	Relationships between polymorphisms in NOS3 and MPO genes, cigarette smoking, and risk of postmenopausal breast cancer		606989		CDC	2007			smoking (tobacco)									
151491		stomach cancer	CANCER	CAN	Stomach Neoplasms|Genetic Predisposition to Disease	1	1p36.3	MTHFR	11768373	11788702		Zhang, F. F.  et al. 2007	17220339				Chromosome 1 open reading frame 167	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_005957.3			CDC GDP info	4524	Hs.214142			Cancer Epidemiol Biomarkers Prev    2007    16(1)    115-21	Genetic polymorphisms in folate metabolism and the risk of stomach cancer		607093		CDC	2007												
152096	Y	leanness obesity	METABOLIC	MET	Thinness	4	4q21	NPFFR2	73116384	73237614		Dahlman, I.  et al. 2007	17503329				Neuropeptide FF receptor 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004885	Scandinavian		CDC GDP info	10886	Hs.99231			Am J Hum Genet    2007    80(6)    1115-24	A Common Haplotype in the G-Protein-Coupled Receptor Gene GPR74 Is Associated with Leanness and Increased Lipolysis				CDC	2007												
152241		schizophrenia	PSYCH	PSY	Schizophrenia	19	19q13.13-q13.2	NUMBL	45863651	45888396		Passos Gregorio, S.  et al. 2006	16899352				Numb homolog (Drosophila)-like	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_004756	Brazilian;Danish	Brazil|Denmark	CDC GDP info	9253	Hs.326953			Schizophr Res    2006    88(1-3)    275-82	Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects		604018		CDC	2006												
152245	Y	multiple sclerosis	IMMUNE	IMM	Multiple Sclerosis|Genetic Predisposition to Disease	12	12q24.1	OAS1	111829121	111842095		Fedetz, M.  et al. 2006	17092260				2',5'-oligoadenylate synthetase 1, 40/46kDa	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_016816.2			CDC GDP info	4938	Hs.524760			Tissue Antigens    2006    68(5)    446-9	OAS1 gene haplotype confers susceptibility to multiple sclerosis		164350		CDC	2006												
152266	Y	upper aerodigestive tract cancer	CANCER	CAN	Carcinoma, Squamous Cell|Esophageal Neoplasms|Head and Neck Neoplasms|Mouth Neoplasms|Laryngeal Neoplasms|Pharyngeal Neoplasms	3	3p26.2	OGG1	9765704	9783342		Hall, J.  et al. 2006	17040931				8-oxoguanine DNA glycosylase	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002542.4	Romania, Poland, Russia, Slovakia and the Czech Republic		CDC GDP info	4968	Hs.380271			Carcinogenesis    2006	The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract		601982		CDC	2006												
152307		heroin abuse	CHEMDEPENDENCY	CHEM	Heroin Dependence|Genetic Predisposition to Disease	6	6q24-q25	OPRM1	154402135	154609693		Drakenberg, K.  et al. 2006	16682632				Opioid receptor, mu 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000914.2	Caucasian;European		CDC GDP info	4988	Hs.2353			Proc Natl Acad Sci U S A    2006	{micro} Opioid receptor A118G polymorphism in association with striatal opioid neuropeptide gene expression in heroin abusers		600018		CDC	2006												
152479		diabetes, type 2	METABOLIC	MET	Diabetes Mellitus, Type 2	13	11p13	PDX1	27392156	27397394		Yokoi, N.  et al. 2006	16873704				Pyruvate dehydrogenase complex, component X	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AK057123	Japanese;European		CDC GDP info	8050	Hs.502315			Diabetes    2006    55(8)    2379-86	Association Studies of Variants in the Genes Involved in Pancreatic {beta}-Cell Function in Type 2 Diabetes in Japanese Subjects		245349		CDC	2006												
152578		ataxia, autosomal dominant cerebellar	NEUROLOGICAL	NEUR	Cerebellar Ataxia	16	16q22.1	PLEKHG4	65868913	65880884		Wieczorek, S.  et al. 2006	16491300				Pleckstrin homology domain containing, family G (with RhoGef domain) member 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB197664	Japanese;Caucasian;European		CDC GDP info	25894	Hs.188781			J Hum Genet    2006	Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population		609526		CDC	2006												
152899		diabetes, type 1	IMMUNE	IMM		6	6p21.3	PSMB9	32929915	32935606		Sia, C.  et al. 2005	17491658				proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_002800.4			CDC GDP info	5698	Hs.132682			Rev Diabet Stud    2005    2(1)    40-52	Genetic susceptibility to type 1 diabetes in the intracellular pathway of antigen processing - a subject review and cross-study comparison		177045		CDC	2005												
153113		ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Neoplasm Invasiveness|Genetic Predisposition to Disease	13	13q14.2	RB1	47775883	47954027		Song, H.  et al. 2006	17047088				Retinoblastoma 1 (including osteosarcoma)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000321.2			CDC GDP info	5925	Hs.408528			Cancer Res    2006    66(20)    10220-6	Common Variants in RB1 Gene and Risk of Invasive Ovarian Cancer		180200		CDC	2006												
153282		pheochtomocytomas	CANCER	CAN	Pheochromocytoma|Adrenal Gland Neoplasms|Genetic Predisposition to Disease	11	11q23	SDHD	111462831	111471727		Korpershoek, E.  et al. 2006	17102080				Succinate dehydrogenase complex, subunit D, integral membrane protein	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003002.1			CDC GDP info	6392	Hs.356270			Ann N Y Acad Sci    2006    1073    138-48	Genetic analyses of apparently sporadic pheochromocytomas		602690		CDC	2006												
154238		bipolar disorder	PHARMACOGENOMIC	PHARM	Bipolar Disorder	6	6p21-p12	TFAP2B	50894397	50923285		Michelon, L.  et al. 2006	16787706				Transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003221.2			CDC GDP info	7021	Hs.33102			Neurosci Lett    2006	Association study of the INPP1, 5HTT, BDNF, AP-2beta and GSK-3beta GENE variants and restrospectively scored response to lithium prophylaxis in bipolar disorder		601601		CDC	2006			lithium									
154372	Y	aspergillosis	INFECTION	INF	Aspergillosis|Lung Diseases, Fungal|Genetic Predisposition to Disease	4	4p14	TLR1	38474270	38482807		Kesh, S.  et al. 2005	16461792				Toll-like receptor 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_003263.3			CDC GDP info	7096	Hs.575090			Ann N Y Acad Sci    2005    1062    95-103	TLR1 and TLR6 Polymorphisms Are Associated with Susceptibility to Invasive Aspergillosis after Allogeneic Stem Cell Transplantation		601194		CDC	2005												
154420	Y	malaria	HEMATOLOGICAL	HEM	Pregnancy Complications, Parasitic|Malaria, Falciparum|Anemia|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Mockenhaupt, F. P.  et al. 2006	16779724				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			J Infect Dis    2006    194(2)    184-8	Common polymorphisms of toll-like receptors 4 and 9 are associated with the clinical manifestation of malaria during pregnancy		603030		CDC	2006												
154469		tuberculosis	INFECTION	INF	Tuberculosis, Pulmonary|HIV Infections|Genetic Predisposition to Disease	9	9q32-q33	TLR4	119506430	119519587		Ferwerda, B.  et al. 2007	17545720				Toll-like receptor 4	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_138554.2			CDC GDP info	7099	Hs.174312			AIDS    2007    21(10)    1375-1377	The toll-like receptor 4 Asp299Gly variant and tuberculosis susceptibility in HIV-infected patients in Tanzania		603030		CDC	2007												
154572		diabetes, type 1	IMMUNE	IMM	Diabetes Mellitus, Type 1|Genetic Predisposition to Disease	6	6p21.3	TNF	31651328	31654091		Kawabata, Y.  et al. 2006	17130566				Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2			CDC GDP info	7124	Hs.241570			Ann N Y Acad Sci    2006    1079    278-84	A Second Component of HLA-Linked Susceptibility to Type 1 Diabetes Maps to Class I Region		191160		CDC	2006												
154715	Y	cervical cancer ovarian cancer	CANCER	CAN	Ovarian Neoplasms|Uterine Cervical Neoplasms	17	17p13.1	TP53	7505821	7531642			16542834				Tumor protein p53 (Li-Fraumeni syndrome)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000546.2			CDC GDP info	7157	Hs.408312			Eur J Cancer    2006	Linking TP53 codon 72 and P21 nt590 genotypes to the development of cervical and ovarian cancer		191170		CDC	2006												
154829		lung cancer	CANCER	CAN	Adenocarcinoma|Carcinoma, Non-Small-Cell Lung|Lung Neoplasms	1	1p35.3-p34.1	TRIT1	40079314	40121764		Spinola, M.  et al. 2006	17145094				TRNA isopentenyltransferase 1	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AF074918	Caucasian;Italian;Norwegian;Asian		CDC GDP info	54802	Hs.356554			Lung Cancer    2006	Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival				CDC	2006												
155108		perinatal morbidity preterm delivery	REPRODUCTION	REP	Enterocolitis, Necrotizing|Kidney Failure, Acute|Premature Birth|Infant, Newborn, Diseases|Genetic Predisposition to Disease	6	6p12	VEGFA	43845930	43862201		Banyasz, I.  et al. 2006	17353160				Vascular endothelial growth factor A	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_001025366			CDC GDP info	7422	Hs.73793			Eur Cytokine Netw    2006    17(4)    266-70	Genetic polymorphisms for vascular endothelial growth factor in perinatal complications		192240		CDC	2006												
155661	Y	Type 1 diabetes	IMMUNE	IMM		18	18p11.3-p11.2	PTPN2	12775479	12874334	P < 10e-10	Todd JA et al Nature Genet 2007	17554260		No information yet	other	Protein tyrosine phosphatase, non-receptor type 2	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=AB209569			John  Todd	5771	Hs.654527			Nature Genet	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.		176887			2007												
155685	Y	chronic GVHD	IMMUNE	IMM		6	6p21.3	TNF			0.038 and 0.0046	Scandinavian Journal of Immunology 66 (6) , 703	18021367			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Southeast Brazilian population		Jeane Eliete Laguila Visentainer	7124	Hs.241570		TNF-alpha	Scandinavian Journal of Immunology	IL2 and TNFA Gene Polymorphisms and the Risk of Graft-versus-Host Disease after Allogeneic Haematopoietic Stem Cell Transplantation					2007		The polymorphism of promoter gene TNFA&#8722;238GA is associated with the occurrence and severity of chronic GVHD.										
155683		Iron Deficiency, Inherited				22	q12.3	TMPRSS6				Nature Genetics 40, 569 - 571 (2008)	18408718				Transmembrane protease, serine 6				Matthew Heeney	164656		Iron Resistant Iron Deficiency Anemia (IRIDA)		Nature Genetics	Mutations in TMPRSS6 cause iron-refractory iron de		609862			2008												
155701	N	Schizophrenia	PSYCH	PSY		9	q31.1	GRIN3A				Gulli R, et al. Psychiatr Genet. 2007 Dec;17(6):35	18075478			other	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A		Italian patients and controls		Emilio Di Maria	116443				Psychiatric Genetics	A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study					2007		case-control association study										
155702	N	Schizophrenia	PSYCH	PSY		22	q12	DGCR2	17403795	17489967	not significant	Georgi et al.			no functional effect of the studied variant		DIGEORGE SYNDROME CRITICAL REGION GENE 2		European, German		Abou Jamra	9993				Psychiatric Genetics	No association between genetic variants at the DGCR2 gene and schizophrenia in a German sample	rs2073776, rs2072123, rs807759				2008												
155703	N	systemic sclerosis	IMMUNE	IMM	systemic sclerosis	15	15q21	FBN1				J Rheumatol 2008 Apr35(4)643-9				other	fibrillin 1		Caucasian		allanore					JOURNAL OF Rheumtaology	Polymorphic markers of the fibrillin-1 gene and systemic sclerosis in European Caucasian patients	rs7177445, rs1042078, rs682737, rs2289136, rs11635140 	181750			2008												
155741	Y	asthma eczema	IMMUNE	IMM		1	1q21	FLG	150541275	150564303	10-11	Palmer CN et al 2006	16550169	R501X and 2284del4	truncating	coding sequence	Filaggrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_002016.1	Scottish, Irish and Danish		Colin Palmer	2312	Hs.23783		skin barrier defect	Nature Genetics	Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.		135940			2006	Heterozygosity in Loss of function mutations in Filaggrin are robustly and strongly associated with eczema and asthma/											
155721	Y	cystic fibrosis	OTHER	OTH	Cystic Fibrosis	16	16p12	SCNN1B	23221092	23300121		Stanke, F. et al 2006	16463024				sodium channel, nonvoltage-gated 1, beta		European			6338	Hs.414614 	intrapair discordance		Hum Genet 2006 1-13	The TNFalpha receptor TNFRSF1A		600760				SCNN1B modifies intrapair discordance											
155742	Y	eczema	IMMUNE	IMM		1	1q21	FLG	150541275	150564303	<0.0001	Bisgaard et al 2008	18578563	R501X and 2284del4	truncating	coding sequence	Filaggrin	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_002016.1	Danish, UK neonates		Colin Palmer	2312	Hs.23783	atopic dermatitisa	skin barrier defect	PLOS Medicine	Gene environment interaction in the onset of eczema in infancy: Filaggrin Loss of function mutations enhanced by neonatal cat exposure		135940			2008	Cats only cause eczema in a small population of high risk individuals who have Filaggrin mutations.  This helps explain heterogeneity in studies before the discovery of Filaggrin.	Birth cohorts	Cat exposure	FLG							Yes	
136753			NORMALVARIATION	NV		6	6p21.3	TNF	31651328	31654091		Padyukov, L.  et al. 2001	11528523			5'promoter	Tumor necrosis factor (TNF superfamily, member 2)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000594.2	Chinese/Swedish Caucasians		CDC GDPinfo	7124	Hs.241570			Genes and immunity. 2001 Aug;2(5):280-3	Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians.		191160	25703	2	2001	The noted differences in the frequency of functionally important alleles of cytokine genes may have consequences for the mode of appearance and outcome of certain diseases in individuals of different ethnicity.	Cohort Caucasians individuals western Sweden Cohort Chinese individuals Hong Kong 										
136035			NORMALVARIATION	NV		19	19q13.2	TGFB1	46528490	46551656		Padyukov, L.  et al. 2001	11528523				Transforming growth factor, beta 1 (Camurati-Engelmann disease)	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_000660.3	Chinese/Swedish Caucasians		CDC GDPinfo	7040	Hs.155218			Genes and immunity. 2001 Aug;2(5):280-3	Different allelic frequencies of several cytokine genes in Hong Kong Chinese and Swedish Caucasians.		190180	23631	2	2001	The noted differences in the frequency of functionally important alleles of cytokine genes may have consequences for the mode of appearance and outcome of certain diseases in individuals of different ethnicity.	Cohort Caucasians individuals western Sweden Cohort Chinese individuals Hong Kong 										
160681	N	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis; Deep Vein Thrombosis	1	1p36.3	MTHFR				Bezemer ID et al, Arch Int Med.2007;167(5):497-501	17353498			coding sequence	5,10-methylenetetrahydrofolate reductase (NADPH)				IDB	4524	Hs.214142			Arch Int Medicine 2007 Mar; 167(5): 497-501	No association between the common MTHFR 677CT polymorphism and venous thrombosis: results from the MEGA study	rs1801133				2007	No evidence was found for an association between MTHFR 677CT and the risk of venous thrombosis. There is no rationale for measuring the MTHFR 677CT variant for clinical purposes.	4375 cases & 4856 controls										
160703	Y	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis; Deep Vein Thrombosis	4	4q35.2	CYP4V2	187487823	187509760		Bezemer, I.D. et al, JAMA. 2008;299(11):1306-14	18349091			coding sequence	cytochrome P450, family 4, subfamily V, polypeptide 2				IDB	285440	Hs.237642			JAMA	Gene variants associated with deep vein thrombosis	rs13146272				2008		3155 cases & 5087 controls (3 case-control studies)										
160721	Y	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis; Deep Vein Thrombosis	1	1q23-q25.1	SERPINC1	172139564	172153096		Bezemer, I.D. et al, JAMA. 2008;299(11):1306-14	18349091			other	serpin peptidase inhibitor, clade C (antithrombin), member 1				IDB	462	Hs.75599			JAMA	Gene variants associated with deep vein thrombosis	rs2227589				2008		3155 cases & 5087 controls (3 case-control studies)										
160722	Y	venous thrombosis	CARDIOVASCULAR	CARD	Venous Thrombosis; Deep Vein Thrombosis	19	19q13.4	GP6				Bezemer, I.D. et al, JAMA. 2008;299(11):1306-14	18349091			coding sequence	glycoprotein VI (platelet)				IDB	51206	Hs.661752			JAMA	Gene variants associated with deep vein thrombosis	rs1613662				2008		3155 cases & 5087 controls (3 case-control studies)										
160781	Y	Height	NORMALVARIATION	NV		6	6p21.2-p21.1	PPARD	35418312	35503933	10-8	Burch etal.	19383774	exon 4 	transcription factor binding site in 5	other	PPARdelta	http://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nucleotide&val=NM_006238.3	GoDARTs		Professor Colin Palmer	5467	Hs.696032			JCEM	A single nucleotide polymorphism on exon-4 of the gene encoding PPAR{delta} is associated with reduced height in adults and children.	rs2016520	600409			2009	PPARD variation is clearly associated with a phenotype of reduced stature in both adults and children. Because height is an important indicator of metabolic and nutritional status, this provides additional support for a key role for PPARdelta in critical metabolic functions. PPARdelta may affect height through a variety of mechanisms including altered metabolic efficiency or effects on osteoclast function.											
160801	Y	type 1 diabetes	IMMUNE	IMM		12	12q24.13	OAS1			0.0023	Field LL et al. Diabetes 54:1588-91, 2005	15855350	splice site A/G SNP (rs10774671)	splice site SNP highly associated with OAS enzyme activity (high activity G allele, low activity A allele) 	other	2',5'-oligoadenylate synthetase 1		European ancestry		Dr. L. Leigh Field, University of BC, Vancouver	4938	Hs.524760			Diabetes	OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes					2005		type 1 diabetes cases and healthy sibling control subjects										
160821	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	11	11p15.5	KCNQ1			0.01	E. S. Kang et al. 2009					potassium voltage-gated channel, KQT-like subfamily, member 1		Korean		Eun Seok Kang	218	Hs.95162	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs2237892	607542			2009		Case 145, Control 444, Total 589										
160822	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	10	10q25.2	TCF7L2			0.014	E. S. Kang et al. 2009					transcription factor 7-like 2 (T-cell specific, HMG-box)		Korean		Eun Seok Kang	30756	Hs.593995	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs7903146	602228			2009		case 145, control 444, total 589										
160823	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	8	8q24.11	SLC30A8			0.003	E. S. Kang et al. 2009					solute carrier family 30 (zinc transporter), member 8		Korean		Eun Seok Kang	173851	Hs.532270	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs13266634	611145			2009		case  145, control 444, total 589										
160824	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET		10	10q23.33	HHEX			0.007	E. S. Kang et al. 2009					hematopoietically expressed homeobox		Korean		Eun Seok Kang	2729	Hs.118651	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus 	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs1111875	604420			2009		case 145, control 444, total 589										
160825	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET		10	10q23.33	HHEX			0.008	E. S. Kang et al. 2009					hematopoietically expressed homeobox		Korean		Eun Seok Kang	2729	Hs.118651	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus 	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs7923837	604420			2009		case 145, control 444, total 589										
160826	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET		10	10q23.33	HHEX			0.004	E. S. Kang et al. 2009					hematopoietically expressed homeobox		Korean		Eun Seok Kang	2729	Hs.118651	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus 	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs5015480	604420			2009		case 145, control 444, total 589										
160827	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET		6	6p22.3	CDKAL1			0.008	E. S. Kang et al. 2009					CDK5 regulatory subunit associated protein 1-like 1		Korean		Eun Seok Kang	17774	Hs.657604	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus 	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs10946398	611259			2009		case 145, control 439, total 584										
160828	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET		9	9p21.3	CDKN2A			0.034	E. S. Kang et al. 2009					cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)		Korean		Eun Seok Kang	77	Hs.512599	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus 	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs10811661	600160			2009		case 145, control 444, total 589										
160829	Y	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	9	9p21.3	CDKN2B			0.034	E. S. Kang et al. 2009					cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)		Korean		Eun Seok Kang	4936	Hs.72901	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs10811661	600431			2009		case  145, control 444, total 589										
160830	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	3	3q27.2	IGF2BP2			0.23	E. S. Kang et al. 2009					insulin-like growth factor 2 mRNA binding protein 2		Korean		Eun Seok Kang	6548	Hs.35354	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs4402960	608289			2009		case  145, control 444, total 589										
160841	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	16	16q12.2	FTO			0.924	E. S. Kang et al. 2009					fat mass and obesity associated		Korean		Eun Seok Kang		Hs.528833	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs8050136	610966			2009		case  144, control 439, total 583										
160842	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	4	4p16.1	WFS1			0.33	E. S. Kang et al. 2009					Wolfram syndrome 1 (wolframin)		Korean		Eun Seok Kang	6005	Hs.518602	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs734312	606201			2009		case  145, control 444, total 589										
160843	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	7	7p15.1	JAZF1			0.407	E. S. Kang et al. 2009					JAZF zinc finger 1		Korean		Eun Seok Kang		Hs.368944	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs864745	606246			2009		case  142, control 436, total 578										
160861	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	10	10p13	CDC123			0.676	E. S. Kang et al. 2009					cell division cycle 123 homolog (S. cerevisiae)		Korean		Eun Seok Kang		Hs.412842	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs12779790				2009		case  143, control 433, total 576										
160862	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	10	10p13	CAMK1D			0.676	E. S. Kang et al. 2009					calcium/calmodulin-dependent protein kinase ID		Korean		Eun Seok Kang		Hs.659517	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs12779790	607957			2009		case  143, control 433, total 576										
160863	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	12	12q21.1	TSPAN8			0.253	E. S. Kang et al. 2009					tetraspanin 8		Korean		Eun Seok Kang		Hs.170563	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs7961581	600769			2009		case  143, control 439, total 582										
160881	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	12	12q21.1	LGR5			0.253	E. S. Kang et al. 2009					leucine-rich repeat-containing G protein-coupled receptor 5		Korean		Eun Seok Kang		Hs.658889	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs7961581	606667			2009		case  143, control 439, total 582										
160882	N	Posttransplantation diabetes mellitus (PTDM)	METABOLIC	MET	Posttransplantation diabetes mellitus  	3	3p14.1	ADAMTS9			0.142	E. S. Kang et al. 2009					ADAM metallopeptidase with thrombospondin type 1 motif, 9		Korean		Eun Seok Kang		Hs.656071	Posttransplantation diabetes mellitus (PTDM)	Posttransplantation diabetes mellitus (PTDM)	Transplantation	Association of Common Type 2 Diabetes Risk Gene Variants and Posttransplantation Diabetes Mellitus in Renal Allograft Recipients in Korea	rs4607103	605421			2009		case  145, control 442, total 587										
